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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
CDK11A	728642	broad.mit.edu	37	chr1	1650844	1650844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	tgtgatgaactttttctttcCgagacatttgctggggtggt	12	6	1	3	rs200755605	byFrequency	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:1650844C>T	ENST00000378633.1	-	4	357	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	CDK11A_ENST00000356200.3_Missense_Mutation_p.R59Q|CDK11A_ENST00000357760.2_Missense_Mutation_p.R93Q|CDK11A_ENST00000378638.2_Missense_Mutation_p.R59Q|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378635.3_Missense_Mutation_p.R93Q|CDK11A_ENST00000404249.3_Missense_Mutation_p.R93Q|CDK11A_ENST00000358779.5_Missense_Mutation_p.R93Q			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	93	Glu-rich.		R -> W (in dbSNP:rs1059831). {ECO:0000269|PubMed:16710414, ECO:0000269|PubMed:9750192}.		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						TTTTTCTTTCCGAGACATTTG	0.398													-|||	4	0.000798722	0.0023	0.0014	5008	,	,		18480	0		0	False		,,,				2504	0				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.(175-177)cGg>cAg		cyclin-dependent kinase 11A		C	GLN/ARG,GLN/ARG	9,3769		0,9,1880	239	226	230		278,278	5.3	1	1		230	1,8229		0,1,4114	no	missense,missense	CDK11A	NM_024011.2,NM_033529.2	43,43	0,10,5994	TT,TC,CC		0.0122,0.2382,0.0833	probably-damaging,probably-damaging	93/781,93/771	1650844	10,11998	1889	4115	6004	SO:0001583	missense	728642							g.chr1:1650844C>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.278G>A	1.37:g.1650844C>T	ENSP00000367900:p.Arg93Gln		Somatic				CDK11A_ENST00000357760.2_Missense_Mutation_p.R93Q|CDK11A_ENST00000378633.1_Missense_Mutation_p.R93Q|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Missense_Mutation_p.R93Q|CDK11A_ENST00000378638.2_Missense_Mutation_p.R59Q|CDK11A_ENST00000378635.3_Missense_Mutation_p.R93Q|CDK11A_ENST00000404249.3_Missense_Mutation_p.R93Q	p.R59Q			WXS	Illumina GAIIx	Phase_I					3	410	-								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.176G>A		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	-	31	5.075609	0.94000	0.002382	1.22E-4	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630;ENST00000378635;ENST00000479362	T;T;T;T;T;T;T;T	0.05786	3.39;3.97;3.67;3.67;3.39;3.39;3.39;3.39	5.3	5.3	0.74995	.	0.404062	0.20996	U	0.081957	T	0.17066	0.0410	L	0.32530	0.975	0.38027	D	0.935056	D;D;D;D;D;P;D;D;D;D;D	0.89917	0.995;1.0;0.999;0.998;1.0;0.935;0.998;1.0;1.0;0.974;1.0	P;P;D;D;D;B;D;D;D;B;D	0.85130	0.636;0.846;0.91;0.945;0.982;0.288;0.96;0.997;0.994;0.374;0.982	T	0.06320	-1.0833	10	0.34782	T	0.22	.	17.9833	0.89148	0.0:1.0:0.0:0.0	.	93;93;93;93;93;93;59;93;93;59;93	B4E0M9;B4E0N4;E7ESP2;Q5QPR3;Q9UQ88-2;Q9UQ88-4;Q5QPR4;P21127-3;Q9UQ88;P21127-6;P21127-2	.;.;.;.;.;.;.;.;CD11A_HUMAN;.;.	Q	59;93;93;93;93;59;59;93;93	ENSP00000348529:R59Q;ENSP00000384442:R93Q;ENSP00000350403:R93Q;ENSP00000351629:R93Q;ENSP00000367900:R93Q;ENSP00000367905:R59Q;ENSP00000367902:R93Q;ENSP00000423900:R93Q	ENSP00000348529:R59Q	R	-	2	0	CDK11A	1640704	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.228000	0.65310	2.462000	0.83206	0.655000	0.94253	CGG		0.398	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		94	172	0	0	0	1	0	94	172					T	1650844	C	T	1650844	3	4	1	1	0	0	0	0	1	0	0	0	3128	652	23	1	2132	1	CDK11A	1	1650844	Missense_Mutation	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08		1650844	247599777	1	1										
AJAP1	55966	broad.mit.edu	37	chr1	4772258	4772258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	ggccccgggaccaggcggccGccctcgtgcccaaggcagga	16	17	0	0	rs369972327		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:4772258G>A	ENST00000378191.4	+	2	709	c.328G>A	c.(328-330)Gcc>Acc	p.A110T	AJAP1_ENST00000378190.3_Missense_Mutation_p.A110T	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	110					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)		CCAGGCGGCCGCCCTCGTGCC	0.736																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(328-330)Gcc>Acc		adherens junctions associated protein 1							8	7	7					1																	4772258		1890	3802	5692	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772258G>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.328G>A	1.37:g.4772258G>A	ENSP00000367433:p.Ala110Thr		Somatic				AJAP1_ENST00000378190.3_Missense_Mutation_p.A110T	p.A110T	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	709	+	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)	110					Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.328G>A	CCDS54.1	.	.	.	.	.	.	.	.	.	.	G	0.467	-0.886371	0.02511	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.42131	0.98;0.98	5.03	-5.46	0.02608	.	1.311810	0.04811	N	0.435301	T	0.16257	0.0391	N	0.04508	-0.205	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.27773	-1.0064	10	0.07644	T	0.81	-0.8856	7.2711	0.26258	0.6003:0.0:0.2812:0.1185	.	110	Q9UKB5	AJAP1_HUMAN	T	110	ENSP00000367432:A110T;ENSP00000367433:A110T	ENSP00000367432:A110T	A	+	1	0	AJAP1	4672118	0.000000	0.05858	0.035000	0.18076	0.061000	0.15899	-0.979000	0.03774	-0.953000	0.03645	-0.984000	0.02558	GCC		0.736	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		12	3	0	0	0	1	0	12	3					A	4772258	G	A	4772258	3	1	1	1	0	0	0	0	1	0	0	0	438	1087	38	1	334	1	AJAP1	1	4772258	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08	3121414	4772258	244478363	2	2										
HSPG2	3339	broad.mit.edu	37	chr1	22161313	22161313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	aatgcctggccgcaggtgccCtccaactttgctccatgtca	9	15	1	0			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:22161313C>T	ENST00000374695.3	-	77	10658	c.10579G>A	c.(10579-10581)Ggg>Agg	p.G3527R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3527	Ig-like C2-type 21.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGCAGGTGCCCTCCAACTTTG	0.637																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(10579-10581)Ggg>Agg		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						92	71	78					1																	22161313		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.chr1:22161313C>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.10579G>A	1.37:g.22161313C>T	ENSP00000363827:p.Gly3527Arg		Somatic					p.G3527R	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)	77	10658	-		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)	3527			Ig-like C2-type 21.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.10579G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747272	0.49257	.	.	ENSG00000142798	ENST00000374695;ENST00000426143	T;T	0.65732	-0.17;-0.17	4.89	3.98	0.46160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39083	N	0.001477	T	0.63307	0.2500	L	0.28556	0.865	0.35436	D	0.794472	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.64812	-0.6319	10	0.18710	T	0.47	.	8.2763	0.31874	0.0:0.8181:0.0:0.1819	.	1467;3527	Q59EG0;P98160	.;PGBM_HUMAN	R	3527;79	ENSP00000363827:G3527R;ENSP00000392022:G79R	ENSP00000363827:G3527R	G	-	1	0	HSPG2	22033900	0.995000	0.38212	0.111000	0.21465	0.281000	0.26958	3.669000	0.54561	1.058000	0.40530	0.313000	0.20887	GGG		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		35	41	0	0	0	1	0	35	41					T	22161313	C	T	22161313	3	4	1	1	0	0	0	0	1	0	0	0	7439	681	24	3	2680	3	HSPG2	1	22161313	Missense_Mutation	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08	17389055	22161313	227089308	3	3										
ZMYM6	9204	broad.mit.edu	37	chr1	35476601	35476601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	gccctgagacaggggcaccgCcgaagagtttgttccttttg	13	11	0	2			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:35476601C>T	ENST00000357182.4	-	9	1326	c.1099G>A	c.(1099-1101)Gcg>Acg	p.A367T	ZMYM6_ENST00000373340.2_Missense_Mutation_p.A367T|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Missense_Mutation_p.A367T	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	367					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)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AGGGGCACCGCCGAAGAGTTT	0.458																																						ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(1099-1101)Gcg>Acg		zinc finger, MYM-type 6							52	53	53					1																	35476601		2203	4300	6503	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35476601C>T	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1099G>A	1.37:g.35476601C>T	ENSP00000349708:p.Ala367Thr		Somatic				ZMYM6_ENST00000373340.2_Missense_Mutation_p.A367T|ZMYM6_ENST00000487874.1_Missense_Mutation_p.A367T|ZMYM6_ENST00000493328.1_5'UTR	p.A367T	NM_007167.3	NP_009098.3	WXS	Illumina GAIIx	Phase_I	O95789	ZMYM6_HUMAN			9	1326	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	367					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.1099G>A	CCDS387.2	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914110	0.33815	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.22134	1.97;3.14	5.2	4.26	0.50523	.	0.649416	0.15854	N	0.241338	T	0.09512	0.0234	N	0.08118	0	0.24208	N	0.995483	P;B;B	0.39665	0.682;0.325;0.27	B;B;B	0.31946	0.115;0.097;0.138	T	0.13388	-1.0511	10	0.09590	T	0.72	-7.0E-4	15.1397	0.72601	0.1465:0.8535:0.0:0.0	.	270;367;367	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	T	367	ENSP00000362437:A367T;ENSP00000349708:A367T	ENSP00000349708:A367T	A	-	1	0	ZMYM6	35249188	0.056000	0.20664	0.231000	0.23993	0.651000	0.38670	2.434000	0.44802	1.495000	0.48549	0.655000	0.94253	GCG		0.458	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		20	43	0	0	0	1	0	20	43					T	35476601	C	T	35476601	3	4	1	1	0	0	0	0	1	0	0	0	17719	739	26	3	2910	3	ZMYM6	1	35476601	Missense_Mutation	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08	13315288	35476601	213774020	4	4										
HIVEP3	59269	broad.mit.edu	37	chr1	41984100	41984100	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	ggcttccagctcctccagcaCccctgtctcttggcactttt	7	17	1	0			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:41984100C>G	ENST00000372583.1	-	7	6328	c.5443G>C	c.(5443-5445)Gtg>Ctg	p.V1815L	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.V1815L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.V1815L|HIVEP3_ENST00000372584.1_Missense_Mutation_p.V1815L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1815					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)				TCCTCCAGCACCCCTGTCTCT	0.522																																						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.(5443-5445)Gtg>Ctg		human immunodeficiency virus type I enhancer binding protein 3							174	145	155					1																	41984100		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41984100C>G	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.5443G>C	1.37:g.41984100C>G	ENSP00000361664:p.Val1815Leu		Somatic				HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.V1815L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.V1815L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.V1815L	p.V1815L	NM_001127714.2	NP_001121186.1	WXS	Illumina GAIIx	Phase_I	Q5T1R4	ZEP3_HUMAN			6	6457	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1815					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.5443G>C	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547596	0.45383	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	3.81	2.83	0.33086	.	0.200890	0.24920	N	0.034547	T	0.06325	0.0163	N	0.17838	0.53	0.31031	N	0.717404	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.003	T	0.06789	-1.0807	10	0.44086	T	0.13	-5.259	13.092	0.59171	0.0:0.7309:0.2691:0.0	.	1815;1815	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	1815	ENSP00000361665:V1815L;ENSP00000361664:V1815L;ENSP00000247584:V1815L;ENSP00000410828:V1815L	ENSP00000247584:V1815L	V	-	1	0	HIVEP3	41756687	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.617000	0.54181	1.955000	0.56771	0.655000	0.94253	GTG		0.522	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		42	74	0	0	0	1	0	42	74					G	41984100	C	G	41984100	3	3	1	1	0	0	0	0	1	0	0	0	7197	507	18	5	1789	5	HIVEP3	1	41984100	Missense_Mutation	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08	6507499	41984100	207266521	5	5										
CCDC30	728621	broad.mit.edu	37	chr1	43021941	43021941	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	caacagaatcgagatatgaaAgatgaagaaaaagaacagca	9	5	0	7			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:43021941A>C	ENST00000340612.4	+	4	540	c.540A>C	c.(538-540)aaA>aaC	p.K180N	CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.K180N|CCDC30_ENST00000428554.2_Missense_Mutation_p.K180N|CCDC30_ENST00000507855.1_Intron			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	180						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GAGATATGAAAGATGAAGAAA	0.443																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(538-540)aaA>aaC		coiled-coil domain containing 30							83	77	79					1																	43021941		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43021941A>C	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.540A>C	1.37:g.43021941A>C	ENSP00000340378:p.Lys180Asn		Somatic				CCDC30_ENST00000342022.4_Missense_Mutation_p.K180N|CCDC30_ENST00000340612.4_Missense_Mutation_p.K180N|CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000507855.1_Intron	p.K180N			WXS	Illumina GAIIx	Phase_I	Q5VVM6	CCD30_HUMAN			12	1683	+			180					Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.540A>C	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	A	6.737	0.504841	0.12822	.	.	ENSG00000186409	ENST00000428554;ENST00000340612;ENST00000342022	T;T;T	0.47177	0.85;0.85;0.85	5.52	-3.15	0.05233	.	1.054350	0.07249	N	0.865632	T	0.20981	0.0505	N	0.12182	0.205	0.09310	N	0.999999	B	0.11235	0.004	B	0.09377	0.004	T	0.17592	-1.0364	10	0.18276	T	0.48	.	0.9533	0.01380	0.334:0.2663:0.2562:0.1435	.	180	Q5VVM6	CCD30_HUMAN	N	180	ENSP00000397035:K180N;ENSP00000340378:K180N;ENSP00000339280:K180N	ENSP00000340378:K180N	K	+	3	2	CCDC30	42794528	0.001000	0.12720	0.008000	0.14137	0.364000	0.29643	0.096000	0.15147	-0.181000	0.10619	0.460000	0.39030	AAA		0.443	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		24	16	0	0	0	1	0	24	16					C	43021941	A	C	43021941	3	2	1	1	0	0	0	0	1	0	0	0	2807	69	3	4	554	4	CCDC30	1	43021941	Missense_Mutation	SNP	A	TCGA-N5-A4R8-01A-11D-A28R-08	1037841	43021941	206228680	6	6										
SGIP1	84251	broad.mit.edu	37	chr1	67148015	67148015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	aggactgtggtttcgtccccCggacctggctcgggccctgg	15	14	0	0			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:67148015C>T	ENST00000371037.4	+	15	1355	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Silent_p.P430P|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371039.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	426	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						TTTCGTCCCCCGGACCTGGCT	0.562																																						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.(1276-1278)ccC>ccT		SH3-domain GRB2-like (endophilin) interacting protein 1							107	122	117					1																	67148015		2202	4296	6498	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.chr1:67148015C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1278C>T	1.37:g.67148015C>T			Somatic				SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Silent_p.P430P	p.P426P	NM_032291.2	NP_115667.2	WXS	Illumina GAIIx	Phase_I	Q9BQI5	SGIP1_HUMAN			15	1355	+			426			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	c.1278C>T	CCDS30744.1																																																																																				0.562	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		158	154	0	0	0	1	0	158	154					T	67148015	C	T	67148015	2	4	1	1	0	0	0	0	0	0	0	1	14221	639	23	1		1	SGIP1	1	67148015	Silent	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08	24126074	67148015	182102606	7	7										
CELSR2	1952	broad.mit.edu	37	chr1	109793392	109793394	+	In_Frame_Del	DEL	TTC	TTC	-													0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	ttgatagccgctccaaccagTtcttctccctggacccagtc							TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:109793392_109793394delTTC	ENST00000271332.3	+	1	752_754	c.691_693delTTC	c.(691-693)ttcdel	p.F232del		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	232	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCCAACCAGTTCTTCTCCCTGG	0.616																																					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.(691-693)del		cadherin, EGF LAG seven-pass G-type receptor 2																																				SO:0001651	inframe_deletion	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.chr1:109793392_109793394delTTC	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.691_693delTTC	1.37:g.109793395_109793397delTTC	ENSP00000271332:p.Phe232del		Somatic					p.F232del	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	752_754	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	232			Cadherin 1.		Q5T2Y7|Q92566	In_Frame_Del	DEL	ENST00000271332.3	37	c.691_693delTTC	CCDS796.1																																																																																				0.616	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		18	38						18	38	---	---	---	---	-	109793394	TTC	-	109793392	7	5	1	1	0	1	0	1	0	0	0	0	3224	1725	60	0	693	0	CELSR2	1	109793392	In_Frame_Del	DEL	TTC	TCGA-N5-A4R8-01A-11D-A28R-08	42645377	109793392	139457229	8	8										
ZBTB7B	51043	broad.mit.edu	37	chr1	154987608	154987608	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	cggacgaggatgactgtgagCgagcccgccagtatctggag	16	10	1	2			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:154987608C>T	ENST00000368426.3	+	3	609	c.472C>T	c.(472-474)Cga>Tga	p.R158*	ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Nonsense_Mutation_p.R158*|ZBTB7B_ENST00000292176.2_Nonsense_Mutation_p.R158*|ZBTB7B_ENST00000417934.2_Nonsense_Mutation_p.R192*	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	158					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)			TGACTGTGAGCGAGCCCGCCA	0.637																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(472-474)Cga>Tga		zinc finger and BTB domain containing 7B							38	39	38					1																	154987608		2192	4276	6468	SO:0001587	stop_gained	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.chr1:154987608C>T	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.472C>T	1.37:g.154987608C>T	ENSP00000357411:p.Arg158*		Somatic				ZBTB7B_ENST00000292176.2_Nonsense_Mutation_p.R158*|ZBTB7B_ENST00000417934.2_Nonsense_Mutation_p.R192*|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Nonsense_Mutation_p.R158*	p.R158*	NM_001256455.1	NP_001243384.1	WXS	Illumina GAIIx	Phase_I	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	609	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		158					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Nonsense_Mutation	SNP	ENST00000368426.3	37	c.472C>T	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797842	0.90538	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	.	.	.	3.79	1.65	0.23941	.	0.492803	0.18148	N	0.150199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0223	0.42051	0.3723:0.6276:0.0:0.0	.	.	.	.	X	158;158;192;158	.	ENSP00000292176:R158X	R	+	1	2	ZBTB7B	153254232	0.996000	0.38824	1.000000	0.80357	0.979000	0.70002	0.934000	0.28910	0.796000	0.33947	-0.475000	0.04921	CGA		0.637	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		33	109	0	0	0	1	0	33	109					T	154987608	C	T	154987608	4	4	1	1	0	0	0	0	0	1	0	0	17569	760	27	1	474	1	ZBTB7B	1	154987608	Nonsense_Mutation	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08	45194216	154987608	94263013	9	9										
TTN	7273	broad.mit.edu	37	chr2	179597447	179597447	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	gttacaaaactgggtggttcTgaagaaggggtataagaaag	14	3	1	3			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr2:179597447T>G	ENST00000591111.1	-	54	15616		c.e54-2		TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000589042.1_Splice_Site			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)			TGGGTGGTTCTGAAGAAGGGG	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.e56-2		titin							40	39	39					2																	179597447		1838	4085	5923	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179597447T>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.15392-2A>C	2.37:g.179597447T>G			Somatic				TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron		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)		56	16567	-								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			.	.	.	.	.	.	.	.	.	.	T	19.40	3.820053	0.71028	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179305692	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	.		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	10	10	0	0	0	1	0	10	10					G	179597447	T	G	179597447	5	3	1	1	0	0	0	0	0	0	1	0	16750	1594	55	4	88416	4	TTN	2	179597447	Splice_Site	SNP	T	TCGA-N5-A4R8-01A-11D-A28R-08		179597447	63601926	10	10										
IRS1	3667	broad.mit.edu	37	chr2	227661386	227661386	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	ttccatagctggtcccggaaGggacggcgttgctgctgctg	15	11	0	0			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr2:227661386G>T	ENST00000305123.5	-	1	3089	c.2069C>A	c.(2068-2070)cCt>cAt	p.P690H	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	690					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)		GGTCCCGGAAGGGACGGCGTt	0.627											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2068-2070)cCt>cAt		insulin receptor substrate 1							63	67	66					2																	227661386		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661386G>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2069C>A	2.37:g.227661386G>T	ENSP00000304895:p.Pro690His		Somatic	OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.P690H	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	3089	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	690						Missense_Mutation	SNP	ENST00000305123.5	37	c.2069C>A	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	7.859	0.725629	0.15439	.	.	ENSG00000169047	ENST00000305123	T	0.62639	0.01	4.54	3.63	0.41609	.	0.299405	0.24226	N	0.040385	T	0.52980	0.1768	L	0.49126	1.545	0.25732	N	0.985253	P	0.37864	0.61	B	0.35312	0.2	T	0.52260	-0.8599	10	0.66056	D	0.02	-2.3681	9.602	0.39609	0.0:0.0:0.7915:0.2085	.	690	P35568	IRS1_HUMAN	H	690	ENSP00000304895:P690H	ENSP00000304895:P690H	P	-	2	0	IRS1	227369630	0.902000	0.30710	0.845000	0.33349	0.082000	0.17680	1.516000	0.35856	1.080000	0.41073	0.561000	0.74099	CCT		0.627	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		39	59	1	0	1.60099e-16	1	1.72574e-16	39	59					T	227661386	G	T	227661386	3	4	1	1	0	0	0	0	1	0	0	0	7849	1000	35	5	1663	5	IRS1	2	227661386	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08	48063939	227661386	15537987	11	11										
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	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	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			37	4	0	0	0	1	0	37	4					A	178936091	G	A	178936091	3	1	1	1	0	0	0	0	1	0	0	0	11922	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08		178936091	19086339	12	12										
ECE2	9718	broad.mit.edu	37	chr3	183995214	183995214	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	cgctggaacaccttcaacagCctctgggaccaaaaccaggc	9	15	2	0			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr3:183995214C>T	ENST00000402825.3	+	4	792	c.792C>T	c.(790-792)agC>agT	p.S264S	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Silent_p.S192S|ECE2_ENST00000404464.3_Silent_p.S146S|ECE2_ENST00000359140.4_Silent_p.S117S	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	264	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)			CCTTCAACAGCCTCTGGGACC	0.612																																						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.(790-792)agC>agT		endothelin converting enzyme 2							48	46	46					3																	183995214		2203	4300	6503	SO:0001819	synonymous_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.chr3:183995214C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.792C>T	3.37:g.183995214C>T			Somatic				ECE2_ENST00000357474.5_Silent_p.S192S|ECE2_ENST00000404464.3_Silent_p.S146S|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Silent_p.S117S	p.S264S	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	792	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		264			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	ENST00000402825.3	37	c.792C>T	CCDS3256.2																																																																																				0.612	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		17	45	0	0	0	1	0	17	45					T	183995214	C	T	183995214	2	4	1	1	0	0	0	0	0	0	0	1	4892	738	26	3		3	ECE2	3	183995214	Silent	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08	5059123	183995214	14027216	13	13										
ENPEP	2028	broad.mit.edu	37	chr4	111436563	111436563	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	ttttgagaatgcttgaagacTggataaaaccagagaatttt	9	4	0	4			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr4:111436563T>C	ENST00000265162.5	+	8	1816	c.1474T>C	c.(1474-1476)Tgg>Cgg	p.W492R	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	492					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)		GCTTGAAGACTGGATAAAACC	0.308																																						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.(1474-1476)Tgg>Cgg		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						98	103	101					4																	111436563		2203	4299	6502	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111436563T>C	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.1474T>C	4.37:g.111436563T>C	ENSP00000265162:p.Trp492Arg		Somatic				RP11-380D23.1_ENST00000503998.1_RNA	p.W492R	NM_001977.3	NP_001968.3	WXS	Illumina GAIIx	Phase_I	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	8	1816	+		Hepatocellular(203;0.217)	492					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1474T>C	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.679688	0.68042	.	.	ENSG00000138792	ENST00000265162	T	0.04234	3.67	5.59	5.59	0.84812	.	0.181983	0.53938	D	0.000043	T	0.21427	0.0516	M	0.77486	2.375	0.58432	D	0.999998	D	0.76494	0.999	D	0.66497	0.944	T	0.00369	-1.1784	10	0.87932	D	0	.	15.7564	0.78030	0.0:0.0:0.0:1.0	.	492	Q07075	AMPE_HUMAN	R	492	ENSP00000265162:W492R	ENSP00000265162:W492R	W	+	1	0	ENPEP	111656012	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	5.920000	0.70017	2.135000	0.66039	0.528000	0.53228	TGG		0.308	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			23	19	0	0	0	1	0	23	19					C	111436563	T	C	111436563	3	2	1	1	0	0	0	0	1	0	0	0	5130	1580	55	4	1504	4	ENPEP	4	111436563	Missense_Mutation	SNP	T	TCGA-N5-A4R8-01A-11D-A28R-08		111436563	79717713	14	14										
HHIP	64399	broad.mit.edu	37	chr4	145580958	145580958	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	ttttcaaggagccttatttgGacattcacaaacttgttcaa	6	8	3	0			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr4:145580958G>T	ENST00000296575.3	+	4	1454	c.799G>T	c.(799-801)Gac>Tac	p.D267Y	HHIP_ENST00000434550.2_Missense_Mutation_p.D267Y|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	267					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)		GCCTTATTTGGACATTCACAA	0.363																																						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.(799-801)Gac>Tac		hedgehog interacting protein							67	75	72					4																	145580958		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145580958G>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.799G>T	4.37:g.145580958G>T	ENSP00000296575:p.Asp267Tyr		Somatic				HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.D267Y|HHIP_ENST00000511314.1_3'UTR	p.D267Y	NM_022475.2	NP_071920.1	WXS	Illumina GAIIx	Phase_I	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	4	1454	+	all_hematologic(180;0.151)		267					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.799G>T	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151432	0.78001	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.61040	2.52;0.14	5.78	4.94	0.65067	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.80110	0.4563	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84681	0.0717	10	0.87932	D	0	-27.4229	14.5873	0.68335	0.0698:0.0:0.9302:0.0	.	267;267	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	Y	267	ENSP00000296575:D267Y;ENSP00000408587:D267Y	ENSP00000296575:D267Y	D	+	1	0	HHIP	145800408	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.765000	0.74965	1.451000	0.47736	0.555000	0.69702	GAC		0.363	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			60	55	1	0	8.4772e-36	1	9.90997e-36	60	55					T	145580958	G	T	145580958	3	4	1	1	0	0	0	0	1	0	0	0	7101	1174	41	2	813	2	HHIP	4	145580958	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08	34144395	145580958	45573318	15	15										
ASB5	140458	broad.mit.edu	37	chr4	177190223	177190223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	aaagtagacattggataattGttgagcaaacggccgatttt	10	5	0	2			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr4:177190223G>T	ENST00000296525.3	-	1	150	c.37C>A	c.(37-39)Caa>Aaa	p.Q13K		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	13					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TTGGATAATTGTTGAGCAAAC	0.423																																						ENST00000296525.3																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(37-39)Caa>Aaa		ankyrin repeat and SOCS box containing 5							93	88	90					4																	177190223		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177190223G>T	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"Ankyrin repeat domain containing"	17180	protein-coding gene	gene with protein product		615050	"ankyrin repeat and SOCS box-containing 5"				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.37C>A	4.37:g.177190223G>T	ENSP00000296525:p.Gln13Lys		Somatic					p.Q13K	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	150	-		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)	13					Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.37C>A	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092338	0.55968	.	.	ENSG00000164122	ENST00000296525;ENST00000505299	T	0.39056	1.1	5.57	5.57	0.84162	.	0.060403	0.64402	D	0.000002	T	0.32285	0.0824	L	0.36672	1.1	0.80722	D	1	P	0.39282	0.666	B	0.31869	0.137	T	0.09422	-1.0675	10	0.13853	T	0.58	-20.5972	19.5657	0.95391	0.0:0.0:1.0:0.0	.	13	Q8WWX0	ASB5_HUMAN	K	13	ENSP00000296525:Q13K	ENSP00000296525:Q13K	Q	-	1	0	ASB5	177427217	1.000000	0.71417	0.988000	0.46212	0.840000	0.47671	6.518000	0.73764	2.630000	0.89119	0.591000	0.81541	CAA		0.423	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			28	40	1	0	3.73148e-12	1	3.92041e-12	28	40					T	177190223	G	T	177190223	3	4	1	1	0	0	0	0	1	0	0	0	1026	1386	48	5	980	5	ASB5	4	177190223	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08	31609265	177190223	13964053	16	16										
IPO11	51194	broad.mit.edu	37	chr5	61733126	61733126	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	catggatctcaatagtgccaGcactgttgttcttcaggtgt	10	9	3	0			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr5:61733126G>T	ENST00000325324.6	+	2	189	c.20G>T	c.(19-21)aGc>aTc	p.S7I	IPO11_ENST00000409296.3_Missense_Mutation_p.S47I|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	7					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AATAGTGCCAGCACTGTTGTT	0.403																																						ENST00000325324.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30						c.(19-21)aGc>aTc		importin 11							145	139	141					5																	61733126		2203	4300	6503	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61733126G>T	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"Importins"	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.20G>T	5.37:g.61733126G>T	ENSP00000316651:p.Ser7Ile		Somatic				IPO11_ENST00000409296.3_Missense_Mutation_p.S47I|KIF2A_ENST00000509663.2_Intron	p.S7I	NM_016338.4	NP_057422.3	WXS	Illumina GAIIx	Phase_I	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	2	189	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	7					A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.20G>T	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739032	0.89573	.	.	ENSG00000086200	ENST00000514647;ENST00000505902;ENST00000325324;ENST00000506200;ENST00000409296	T;T;T;T	0.44482	0.92;1.88;0.92;1.85	4.98	4.98	0.66077	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	L	0.47716	1.5	0.80722	D	1	P;D	0.55605	0.892;0.972	P;P	0.50708	0.55;0.648	T	0.41288	-0.9517	10	0.38643	T	0.18	.	18.4577	0.90727	0.0:0.0:1.0:0.0	.	47;7	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	I	7;7;7;7;47	ENSP00000427129:S7I;ENSP00000316651:S7I;ENSP00000427274:S7I;ENSP00000386992:S47I	ENSP00000316651:S7I	S	+	2	0	IPO11	61768883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.615000	0.98356	2.574000	0.86865	0.563000	0.77884	AGC		0.403	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		38	7	1	0	1.57019e-19	1	1.73768e-19	38	7					T	61733126	G	T	61733126	3	4	1	1	0	0	0	0	1	0	0	0	7802	971	34	5	146	5	IPO11	5	61733126	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08		61733126	119182134	17	17										
PCDHA11	56138	broad.mit.edu	37	chr5	140250487	140250487	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	gcgcgcagtggatgcggactCaggctacaacgcgtggcttt	15	11	1	0			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr5:140250487C>T	ENST00000398640.2	+	1	1799	c.1799C>T	c.(1798-1800)tCa>tTa	p.S600L	PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGCGGACTCAGGCTACAAC	0.662																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1798-1800)tCa>tTa									73	84	81					5																	140250487		2203	4299	6502	SO:0001583	missense	0							g.chr5:140250487C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1799C>T	5.37:g.140250487C>T	ENSP00000381636:p.Ser600Leu		Somatic				PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.S600L	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	1799	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1799C>T	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271399	0.40194	.	.	ENSG00000249158	ENST00000398640	T	0.49432	0.78	4.78	4.78	0.61160	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69513	0.3119	M	0.80746	2.51	0.28328	N	0.9219	D;D	0.89917	1.0;0.997	D;D	0.74023	0.982;0.964	T	0.65413	-0.6174	9	0.87932	D	0	.	13.6469	0.62288	0.1552:0.8448:0.0:0.0	.	600;600	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	L	600	ENSP00000381636:S600L	ENSP00000381636:S600L	S	+	2	0	PCDHA11	140230671	0.000000	0.05858	0.695000	0.30226	0.153000	0.21895	0.185000	0.16958	2.213000	0.71641	0.556000	0.70494	TCA		0.662	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		140	16	0	0	0	1	0	140	16					T	140250487	C	T	140250487	3	4	1	1	0	0	0	0	1	0	0	0	11530	838	29	3	1801	3	PCDHA11	5	140250487	Missense_Mutation	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08	78517361	140250487	40664773	18	18										
RNF182	221687	broad.mit.edu	37	chr6	13977863	13977863	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	tcacacaactggactgtgtgGaactgcacgtccctgctgtt	10	12	1	0			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:13977863G>T	ENST00000488300.1	+	3	1036	c.513G>T	c.(511-513)tgG>tgT	p.W171C	RNF182_ENST00000544682.1_Missense_Mutation_p.W171C|RNF182_ENST00000537663.1_Missense_Mutation_p.W171C|RNF182_ENST00000537388.1_Missense_Mutation_p.W171C	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	171					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GGACTGTGTGGAACTGCACGT	0.517																																						ENST00000488300.1																			0				cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(511-513)tgG>tgT		ring finger protein 182							191	193	192					6																	13977863		2203	4300	6503	SO:0001583	missense	221687					cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:13977863G>T	AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"RING-type (C3HC4) zinc fingers"	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.513G>T	6.37:g.13977863G>T	ENSP00000420465:p.Trp171Cys		Somatic				RNF182_ENST00000537663.1_Missense_Mutation_p.W171C|RNF182_ENST00000537388.1_Missense_Mutation_p.W171C|RNF182_ENST00000544682.1_Missense_Mutation_p.W171C	p.W171C	NM_152737.3	NP_689950.1	WXS	Illumina GAIIx	Phase_I	Q8N6D2	RN182_HUMAN	Epithelial(50;0.195)		3	1036	+	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	171					B2RDG2|Q8NBG3	Missense_Mutation	SNP	ENST00000488300.1	37	c.513G>T	CCDS4531.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269788	0.80469	.	.	ENSG00000180537	ENST00000537663;ENST00000488300;ENST00000544682;ENST00000537388	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	4.97	4.97	0.65823	.	0.307818	0.38492	N	0.001666	D	0.89632	0.6771	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.88214	0.2892	9	.	.	.	-19.5131	18.6106	0.91284	0.0:0.0:1.0:0.0	.	171	Q8N6D2	RN182_HUMAN	C	171	ENSP00000443228:W171C;ENSP00000420465:W171C;ENSP00000442021:W171C;ENSP00000441271:W171C	.	W	+	3	0	RNF182	14085842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.439000	0.80444	2.468000	0.83385	0.563000	0.77884	TGG		0.517	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039911.2	NM_152737		51	144	1	0	9.22156e-22	1	1.04848e-21	51	144					T	13977863	G	T	13977863	3	4	1	1	0	0	0	0	1	0	0	0	13481	1183	41	2	515	2	RNF182	6	13977863	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08		13977863	157137204	19	19										
NKAPL	222698	broad.mit.edu	37	chr6	28227369	28227369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	gtcgctctgggtcgcgagggCggctcccaagattccgcaac	14	14	1	1			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:28227369C>T	ENST00000343684.3	+	1	272	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	74										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						GTCGCGAGGGCGGCTCCCAAG	0.612																																						ENST00000343684.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(220-222)Cgg>Tgg		NFKB activating protein-like							53	56	55					6																	28227369		2203	4300	6503	SO:0001583	missense	222698							g.chr6:28227369C>T	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.220C>T	6.37:g.28227369C>T	ENSP00000345716:p.Arg74Trp		Somatic					p.R74W	NM_001007531.1	NP_001007532.1	WXS	Illumina GAIIx	Phase_I	Q5M9Q1	NKAPL_HUMAN			1	272	+			74					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.220C>T	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818641	0.50633	.	.	ENSG00000189134	ENST00000343684	T	0.16073	2.37	4.77	4.77	0.60923	.	1.558050	0.04148	N	0.320887	T	0.13543	0.0328	M	0.70275	2.135	0.09310	N	0.999998	D	0.56287	0.975	B	0.40565	0.333	T	0.24728	-1.0152	10	0.51188	T	0.08	0.0535	13.5138	0.61528	0.0:1.0:0.0:0.0	.	74	Q5M9Q1	NKAPL_HUMAN	W	74	ENSP00000345716:R74W	ENSP00000345716:R74W	R	+	1	2	NKAPL	28335348	0.001000	0.12720	0.006000	0.13384	0.006000	0.05464	0.950000	0.29122	2.656000	0.90262	0.655000	0.94253	CGG		0.612	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			54	27	0	0	0	1	0	54	27					T	28227369	C	T	28227369	3	4	1	1	0	0	0	0	1	0	0	0	10449	759	27	1	222	1	NKAPL	6	28227369	Missense_Mutation	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08	14249506	28227369	142887698	20	20										
BAT5	7920	broad.mit.edu	37	chr6	31669903	31669903	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	gggcacggggctgatagtacGtatcctgccaaaacagatgg	14	9	0	2	rs551585963		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:31669903G>C	ENST00000395952.3	-	2	299	c.137C>G	c.(136-138)aCg>aGg	p.T46R	XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|MIR4646_ENST00000580775.1_RNA|ABHD16A_ENST00000375842.4_5'UTR|ABHD16A_ENST00000538874.1_5'UTR|ABHD16A_ENST00000440843.2_Intron	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	46						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CTGATAGTACGTATCCTGCCA	0.557																																						ENST00000395952.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(136-138)aCg>aGg		abhydrolase domain containing 16A							131	88	103					6																	31669903		1511	2709	4220	SO:0001583	missense	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31669903G>C	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"Abhydrolase domain containing"	13921	protein-coding gene	gene with protein product		142620	"HLA-B associated transcript 5"	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.137C>G	6.37:g.31669903G>C	ENSP00000379282:p.Thr46Arg		Somatic				ABHD16A_ENST00000538874.1_5'UTR|ABHD16A_ENST00000375842.4_5'UTR|ABHD16A_ENST00000440843.2_Intron|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR	p.T46R	NM_021160.2	NP_066983.1	WXS	Illumina GAIIx	Phase_I	O95870	ABHGA_HUMAN			2	299	-			46					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Missense_Mutation	SNP	ENST00000395952.3	37	c.137C>G	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	G	38	7.073352	0.98044	.	.	ENSG00000204427	ENST00000395952	.	.	.	5.66	5.66	0.87406	.	0.461279	0.22974	N	0.053389	T	0.24890	0.0604	N	0.08118	0	0.80722	D	1	B	0.28055	0.199	B	0.23419	0.046	T	0.16276	-1.0408	9	0.49607	T	0.09	-2.947	15.2318	0.73395	0.0:0.0:1.0:0.0	.	46	O95870	ABHGA_HUMAN	R	46	.	ENSP00000379282:T46R	T	-	2	0	ABHD16A	31777882	0.990000	0.36364	0.956000	0.39512	0.959000	0.62525	4.836000	0.62789	2.668000	0.90789	0.561000	0.74099	ACG		0.557	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			11	50	0	0	0	1	0	11	50					C	31669903	G	C	31669903	3	2	1	1	0	0	0	0	1	0	0	0	1324	1145	40	5	1615	5	BAT5	6	31669903	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08	3442534	31669903	139445164	21	21										
CLIC1	1192	broad.mit.edu	37	chr6	31701648	31701648	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	actgcctccagaaattcctcAatcttgttggtgtctgtgtg	9	10	3	1			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:31701648A>C	ENST00000375780.2	-	4	812	c.240T>G	c.(238-240)atT>atG	p.I80M	CLIC1_ENST00000375779.2_Missense_Mutation_p.I80M|CLIC1_ENST00000375784.3_Missense_Mutation_p.I80M|CLIC1_ENST00000395892.1_Missense_Mutation_p.I80M			O00299	CLIC1_HUMAN	chloride intracellular channel 1	80	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						GAAATTCCTCAATCTTGTTGG	0.562																																						ENST00000375780.2																			0				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						c.(238-240)atT>atG		chloride intracellular channel 1							87	87	87					6																	31701648		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.chr6:31701648A>C	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.240T>G	6.37:g.31701648A>C	ENSP00000364935:p.Ile80Met		Somatic				CLIC1_ENST00000375784.3_Missense_Mutation_p.I80M|CLIC1_ENST00000375779.2_Missense_Mutation_p.I80M|CLIC1_ENST00000395892.1_Missense_Mutation_p.I80M	p.I80M			WXS	Illumina GAIIx	Phase_I	O00299	CLIC1_HUMAN			4	812	-			80			Required for insertion into the membrane.		Q15089|Q502X1	Missense_Mutation	SNP	ENST00000375780.2	37	c.240T>G	CCDS4719.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.404631	0.42613	.	.	ENSG00000213719	ENST00000375784;ENST00000375779;ENST00000375780;ENST00000395892	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	5.1	-1.39	0.08997	Thioredoxin-like fold (2);	0.000000	0.85682	U	0.000000	T	0.42177	0.1191	M	0.88512	2.96	0.58432	D	0.999999	B	0.22480	0.07	B	0.26770	0.073	T	0.39643	-0.9604	10	0.59425	D	0.04	-6.5374	5.8467	0.18669	0.363:0.0:0.4848:0.1522	.	80	O00299	CLIC1_HUMAN	M	80	ENSP00000364940:I80M;ENSP00000364934:I80M;ENSP00000364935:I80M;ENSP00000379229:I80M	ENSP00000364934:I80M	I	-	3	3	CLIC1	31809627	0.240000	0.23847	0.997000	0.53966	0.999000	0.98932	-0.349000	0.07731	-0.167000	0.10871	0.528000	0.53228	ATT		0.562	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076167.3	NM_001288		103	54	0	0	0	1	0	103	54					C	31701648	A	C	31701648	3	2	1	1	0	0	0	0	1	0	0	0	3527	126	5	4	501	4	CLIC1	6	31701648	Missense_Mutation	SNP	A	TCGA-N5-A4R8-01A-11D-A28R-08	31745	31701648	139413419	22	22										
GJA1	2697	broad.mit.edu	37	chr6	121768821	121768821	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	ggctgctcctcaccaaccgcTcccctctcgcctatgtctcc	6	21	3	0			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:121768821T>C	ENST00000282561.3	+	2	985	c.828T>C	c.(826-828)gcT>gcC	p.A276A		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	276					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CACCAACCGCTCCCCTCTCGC	0.512																																						ENST00000282561.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33						c.(826-828)gcT>gcC		gap junction protein, alpha 1, 43kDa	Carvedilol(DB01136)						61	64	63					6																	121768821		2203	4300	6503	SO:0001819	synonymous_variant	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768821T>C	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"Ion channels / Gap junction proteins (connexins)"	4274	protein-coding gene	gene with protein product	"oculodentodigital dysplasia (syndactyly type III)", "connexin 43"	121014	"gap junction protein, alpha-like", "gap junction protein, alpha 1, 43kDa (connexin 43)"	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.828T>C	6.37:g.121768821T>C			Somatic					p.A276A	NM_000165.3	NP_000156.1	WXS	Illumina GAIIx	Phase_I	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	985	+			276					B2R5U9|Q6FHU1|Q9Y5I8	Silent	SNP	ENST00000282561.3	37	c.828T>C	CCDS5123.1																																																																																				0.512	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		17	55	0	0	0	1	0	17	55					C	121768821	T	C	121768821	2	2	1	1	0	0	0	0	0	0	0	1	6408	1538	54	4		4	GJA1	6	121768821	Silent	SNP	T	TCGA-N5-A4R8-01A-11D-A28R-08	90067173	121768821	49346246	23	23										
PHACTR2	9749	broad.mit.edu	37	chr6	144093533	144093533	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	gccaatgactctgactcggaCgggcctatcttgtacaccga	10	13	2	2			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:144093533C>T	ENST00000427704.2	+	7	1468	c.1338C>T	c.(1336-1338)gaC>gaT	p.D446D	PHACTR2_ENST00000367582.3_Silent_p.D377D|PHACTR2_ENST00000367584.4_Silent_p.D434D|PHACTR2_ENST00000305766.6_Silent_p.D366D|PHACTR2_ENST00000440869.2_Silent_p.D457D	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	446							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTGACTCGGACGGGCCTATCT	0.517																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1336-1338)gaC>gaT		phosphatase and actin regulator 2							71	80	77					6																	144093533		2142	4253	6395	SO:0001819	synonymous_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144093533C>T	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"Phosphatase and actin regulators"	20956	protein-coding gene	gene with protein product		608724	"chromosome 6 open reading frame 56"	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1338C>T	6.37:g.144093533C>T			Somatic				PHACTR2_ENST00000440869.2_Silent_p.D457D|PHACTR2_ENST00000367584.4_Silent_p.D434D|PHACTR2_ENST00000367582.3_Silent_p.D377D|PHACTR2_ENST00000305766.6_Silent_p.D366D	p.D446D	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	WXS	Illumina GAIIx	Phase_I	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	7	1468	+			446					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Silent	SNP	ENST00000427704.2	37	c.1338C>T	CCDS47492.1																																																																																				0.517	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		25	21	0	0	0	1	0	25	21					T	144093533	C	T	144093533	2	4	1	1	0	0	0	0	0	0	0	1	11819	535	19	1		1	PHACTR2	6	144093533	Silent	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08	22324712	144093533	27021534	24	24										
SHPRH	257218	broad.mit.edu	37	chr6	146243850	146243850	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	gacagactgttgcagactcaAtaacattacgagatggaggt	11	7	1	3			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:146243850A>G	ENST00000367505.2	-	19	3932	c.3668T>C	c.(3667-3669)aTt>aCt	p.I1223T	SHPRH_ENST00000367503.3_Missense_Mutation_p.I1227T|SHPRH_ENST00000438092.2_Missense_Mutation_p.I1227T|SHPRH_ENST00000275233.7_Missense_Mutation_p.I1223T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1223					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)		TGCAGACTCAATAACATTACG	0.413																																						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.(3679-3681)aTt>aCt		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							93	92	92					6																	146243850		1886	4107	5993	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146243850A>G	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3668T>C	6.37:g.146243850A>G	ENSP00000356475:p.Ile1223Thr		Somatic				SHPRH_ENST00000438092.2_Missense_Mutation_p.I1227T|SHPRH_ENST00000275233.7_Missense_Mutation_p.I1223T|SHPRH_ENST00000367505.2_Missense_Mutation_p.I1223T	p.I1227T	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)	19	4078	-		Ovarian(120;0.0365)	1223					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.3680T>C	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	A	23.7	4.444308	0.83993	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.80653	-1.28;-1.4;-1.4;-1.28	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.84669	0.5523	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	0.958;1.0;1.0	P;D;D	0.87578	0.471;0.996;0.998	D	0.86664	0.1906	10	0.66056	D	0.02	-18.5666	15.3618	0.74483	1.0:0.0:0.0:0.0	.	422;1223;1227	B3KX98;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	T	1223;1227;1227;1223	ENSP00000356475:I1223T;ENSP00000356473:I1227T;ENSP00000412797:I1227T;ENSP00000275233:I1223T	ENSP00000275233:I1223T	I	-	2	0	SHPRH	146285543	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	9.087000	0.94110	2.096000	0.63516	0.528000	0.53228	ATT		0.413	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		47	21	0	0	0	1	0	47	21					G	146243850	A	G	146243850	3	3	1	1	0	0	0	0	1	0	0	0	14306	101	4	4	1448	4	SHPRH	6	146243850	Missense_Mutation	SNP	A	TCGA-N5-A4R8-01A-11D-A28R-08	2150317	146243850	24871217	25	25										
ZKSCAN1	7586	broad.mit.edu	37	chr7	99631178	99631178	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	gagagaggtccaagggagaaGgggaaaggattgggaagaag	20	2	0	3			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr7:99631178G>C	ENST00000324306.6	+	6	1284	c.1050G>C	c.(1048-1050)aaG>aaC	p.K350N	ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.K137N|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.K314N	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(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)			CAAGGGAGAAGGGGAAAGGAT	0.473																																						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.(1048-1050)aaG>aaC		zinc finger with KRAB and SCAN domains 1							71	77	75					7																	99631178		2203	4300	6503	SO:0001583	missense	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99631178G>C	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.1050G>C	7.37:g.99631178G>C	ENSP00000323148:p.Lys350Asn		Somatic				ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.K314N|ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.K137N	p.K350N	NM_003439.1	NP_003430.1	WXS	Illumina GAIIx	Phase_I	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	1284	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		350					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	c.1050G>C	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578860	0.46006	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000535170	T;T;T	0.07908	3.24;3.2;3.15	5.18	1.43	0.22495	.	0.000000	0.64402	D	0.000016	T	0.16599	0.0399	L	0.56396	1.775	0.33652	D	0.608543	D	0.65815	0.995	P	0.57911	0.829	T	0.15867	-1.0422	10	0.72032	D	0.01	.	8.6072	0.33780	0.3326:0.0:0.6674:0.0	.	350	P17029	ZKSC1_HUMAN	N	350;314;137	ENSP00000323148:K350N;ENSP00000409172:K314N;ENSP00000443508:K137N	ENSP00000323148:K350N	K	+	3	2	ZKSCAN1	99469114	.	.	0.997000	0.53966	0.923000	0.55619	.	.	0.457000	0.26962	0.557000	0.71058	AAG		0.473	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		15	23	0	0	0	1	0	15	23					C	99631178	G	C	99631178	3	2	1	1	0	0	0	0	1	0	0	0	17701	991	35	5	1068	5	ZKSCAN1	7	99631178	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08		99631178	59507485	26	26										
MGAM	8972	broad.mit.edu	37	chr7	141736712	141736712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	cgctatactctattgccctaCctatacaccctcttcttccg	3	17	3	0			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr7:141736712C>T	ENST00000549489.2	+	18	2261	c.2166C>T	c.(2164-2166)taC>taT	p.Y722Y	MGAM_ENST00000475668.2_Silent_p.Y722Y	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	722	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATTGCCCTACCTATACACCC	0.507																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(2164-2166)taC>taT		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						200	205	204					7																	141736712		2088	4216	6304	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.chr7:141736712C>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.2166C>T	7.37:g.141736712C>T			Somatic				MGAM_ENST00000549489.2_Silent_p.Y722Y	p.Y722Y			WXS	Illumina GAIIx	Phase_I	O43451	MGA_HUMAN			18	2220	+	Melanoma(164;0.0272)		722			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.2166C>T	CCDS47727.1																																																																																				0.507	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			94	44	0	0	0	1	0	94	44					T	141736712	C	T	141736712	2	4	1	1	0	0	0	0	0	0	0	1	9550	518	18	3		3	MGAM	7	141736712	Silent	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08	42105534	141736712	17401951	27	27										
MYOM2	9172	broad.mit.edu	37	chr8	2021507	2021507	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	agccacctgcacaaggacgaCgagggcctgtacaccctgcg	12	15	0	0	rs144735881		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr8:2021507C>T	ENST00000262113.4	+	10	1188	c.1047C>T	c.(1045-1047)gaC>gaT	p.D349D	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	349	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACAAGGACGACGAGGGCCTGT	0.607																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1045-1047)gaC>gaT		myomesin 2		C		0,4406		0,0,2203	80	68	72		1047	-1.1	1	8	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYOM2	NM_003970.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		349/1466	2021507	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2021507C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1047C>T	8.37:g.2021507C>T			Somatic				MYOM2_ENST00000523438.1_Intron	p.D349D	NM_003970.2	NP_003961.2	WXS	Illumina GAIIx	Phase_I	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	10	1188	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	349			Ig-like C2-type 2.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.1047C>T	CCDS5957.1																																																																																				0.607	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		48	25	0	0	0	1	0	48	25					T	2021507	C	T	2021507	2	4	1	1	0	0	0	0	0	0	0	1	10101	535	19	1		1	MYOM2	8	2021507	Silent	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08		2021507	144342515	28	28										
RP1L1	94137	broad.mit.edu	37	chr8	10480144	10480144	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	caactgcttcacaggaaagcGcaggagatctgaggctttgc	12	10	2	2	rs202110498	byFrequency	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr8:10480144G>C	ENST00000382483.3	-	2	791	c.568C>G	c.(568-570)Cgc>Ggc	p.R190G	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	190	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGGAAAGCGCAGGAGATCT	0.512																																						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.(568-570)Cgc>Ggc		retinitis pigmentosa 1-like 1							139	131	134					8																	10480144		1929	4145	6074	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10480144G>C	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.568C>G	8.37:g.10480144G>C	ENSP00000371923:p.Arg190Gly		Somatic				RP1L1_ENST00000329335.3_5'UTR	p.R190G	NM_178857.5	NP_849188.4	WXS	Illumina GAIIx	Phase_I	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	791	-			190					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.568C>G	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	9.245	1.039209	0.19669	.	.	ENSG00000183638	ENST00000382483	D	0.91631	-2.88	4.71	2.87	0.33458	.	0.543874	0.13956	U	0.351158	D	0.87888	0.6291	L	0.36672	1.1	0.30963	N	0.723422	B	0.30937	0.301	B	0.34779	0.189	D	0.84736	0.0748	10	0.66056	D	0.02	-3.2699	9.2348	0.37459	0.0805:0.1459:0.7736:0.0	.	190	A6NKC6	.	G	190	ENSP00000371923:R190G	ENSP00000371923:R190G	R	-	1	0	RP1L1	10517554	1.000000	0.71417	0.194000	0.23346	0.165000	0.22458	5.177000	0.65032	0.568000	0.29311	-0.254000	0.11334	CGC		0.512	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			111	81	0	0	0	1	0	111	81					C	10480144	G	C	10480144	3	2	1	1	0	0	0	0	1	0	0	0	13548	1087	38	5	6646	5	RP1L1	8	10480144	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08	8458637	10480144	135883878	29	29										
FAM82B	51115	broad.mit.edu	37	chr8	87498823	87498824	+	Frame_Shift_Ins	INS	-	-	T													0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	gaggttctgctaagctgagcINStacatcacgtgatgcccgtg							TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr8:87498823_87498824insT	ENST00000406452.3	-	4	543_544	c.384_385insA	c.(382-387)gtagctfs	p.A129fs	RMDN1_ENST00000519966.1_Frame_Shift_Ins_p.A129fs|RMDN1_ENST00000523911.1_Frame_Shift_Ins_p.A85fs|CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000430676.2_Frame_Shift_Ins_p.A129fs	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	129						microtubule (GO:0005874)|mitochondrion (GO:0005739)											CTAAGCTGAGCTACATCACGTG	0.371																																						ENST00000406452.3																			0											c.(382-387)gtctcafs		regulator of microtubule dynamics 1																																				SO:0001589	frameshift_variant	51115							g.chr8:87498823_87498824insT	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.385dupA	8.37:g.87498824_87498824dupT	ENSP00000385927:p.Ala129fs		Somatic				RMDN1_ENST00000519966.1_Frame_Shift_Ins_p.S129fs|RMDN1_ENST00000523911.1_Frame_Shift_Ins_p.S85fs|RMDN1_ENST00000430676.2_Frame_Shift_Ins_p.S129fs|CPNE3_ENST00000198765.4_Intron	p.S129fs	NM_016033.2	NP_057117.2	WXS	Illumina GAIIx	Phase_I					4	543_544	-								A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Frame_Shift_Ins	INS	ENST00000406452.3	37	c.384_385insA	CCDS34918.1																																																																																				0.371	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		25	40						25	40	---	---	---	---	T	87498824	-	T	87498823	7	5	1	1	0	1	1	0	0	0	0	0	5640	797	28	0	587	0	FAM82B	8	87498823	Frame_Shift_Ins	INS	-	TCGA-N5-A4R8-01A-11D-A28R-08	77018679	87498823	58865199	30	30										
TIGD5	84948	broad.mit.edu	37	chr8	144681482	144681482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	ctcctgggacctggtgcaggCgggcagcattgagcgctgct	16	12	0	1	rs370572958		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr8:144681482C>T	ENST00000504548.2	+	1	1409	c.1409C>T	c.(1408-1410)gCg>gTg	p.A470V	RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000529272.1_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.A421V|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000531770.1_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	470	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)			CTGGTGCAGGCGGGCAGCATT	0.706													C|||	1	0.000199681	0	0	5008	,	,		13984	0.001		0	False		,,,				2504	0					ENST00000504548.2																			0				NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7						c.(1408-1410)gCg>gTg		tigger transposable element derived 5		C	VAL/ALA	0,4344		0,0,2172	14	15	15		1409	3.4	1	8		15	1,8541		0,1,4270	no	missense	TIGD5	NM_032862.4	64	0,1,6442	TT,TC,CC		0.0117,0.0,0.0078	probably-damaging	470/643	144681482	1,12885	2172	4271	6443	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681482C>T	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.1409C>T	8.37:g.144681482C>T	ENSP00000421489:p.Ala470Val		Somatic				TIGD5_ENST00000321385.3_Missense_Mutation_p.A421V	p.A470V	NM_032862.4	NP_116251.4	WXS	Illumina GAIIx	Phase_I	E7EWS2	E7EWS2_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1409	+	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)		470					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1409C>T	CCDS6406.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.080351|4.080351	0.76528|0.76528	0.0|0.0	1.17E-4|1.17E-4	ENSG00000104529|ENSG00000179886	ENST00000533749|ENST00000504548;ENST00000321385	.|T;T	.|0.41758	.|0.99;0.99	4.3|4.3	3.43|3.43	0.39272|0.39272	.|.	0.108809|0.108809	0.38326|0.38326	U|U	0.001723|0.001723	T|T	0.25269|0.25269	0.0614|0.0614	N|N	0.22421|0.22421	0.69|0.69	0.26673|0.26673	N|N	0.971697|0.971697	.|B	.|0.33612	.|0.419	.|B	.|0.23574	.|0.047	T|T	0.09840|0.09840	-1.0656|-1.0656	7|10	0.39692|0.42905	T|T	0.17|0.14	.|.	11.0796|11.0796	0.48051|0.48051	0.0:0.9092:0.0:0.0908|0.0:0.9092:0.0:0.0908	.|.	.|421	.|Q53EQ6	.|TIGD5_HUMAN	T|V	4|470;421	.|ENSP00000421489:A470V;ENSP00000315906:A421V	ENSP00000431933:A4T|ENSP00000315906:A421V	A|A	-|+	1|2	0|0	EEF1D|TIGD5	144752625|144752625	0.996000|0.996000	0.38824|0.38824	0.962000|0.962000	0.40283|0.40283	0.983000|0.983000	0.72400|0.72400	5.568000|5.568000	0.67385|0.67385	0.788000|0.788000	0.33755|0.33755	0.655000|0.655000	0.94253|0.94253	GCC|GCG		0.706	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		11	17	0	0	0	1	0	11	17					T	144681482	C	T	144681482	3	4	1	1	0	0	0	0	1	0	0	0	15914	768	27	1	1411	1	TIGD5	8	144681482	Missense_Mutation	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08	57182659	144681482	1682540	31	31										
NFIB	4781	broad.mit.edu	37	chr9	14307309	14307309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	ctcctggcgaatatctttgcGcagtttggcaaggagcctgg	13	10	1	0			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr9:14307309G>A	ENST00000380959.3	-	2	714	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	NFIB_ENST00000380921.3_Missense_Mutation_p.R81C|NFIB_ENST00000397575.3_Missense_Mutation_p.R81C|NFIB_ENST00000380934.4_Missense_Mutation_p.R107C|NFIB_ENST00000380953.1_Missense_Mutation_p.R81C|NFIB_ENST00000397579.2_Missense_Mutation_p.R81C|NFIB_ENST00000397581.2_Missense_Mutation_p.R81C	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	81					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R81C(2)		central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		ATATCTTTGCGCAGTTTGGCA	0.493			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"MYB, HGMA2"		"adenoid cystic carcinoma, lipoma"		2	Substitution - Missense(2)	p.R81C(2)	endometrium(2)	central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(241-243)Cgc>Tgc		nuclear factor I/B							165	151	156					9																	14307309		2203	4300	6503	SO:0001583	missense	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14307309G>A	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.241C>T	9.37:g.14307309G>A	ENSP00000370346:p.Arg81Cys		Somatic				NFIB_ENST00000380934.4_Missense_Mutation_p.R107C|NFIB_ENST00000380953.1_Missense_Mutation_p.R81C|NFIB_ENST00000380921.3_Missense_Mutation_p.R81C|NFIB_ENST00000397579.2_Missense_Mutation_p.R81C|NFIB_ENST00000397575.3_Missense_Mutation_p.R81C|NFIB_ENST00000397581.2_Missense_Mutation_p.R81C	p.R81C	NM_005596.3	NP_005587.2	WXS	Illumina GAIIx	Phase_I	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	2	714	-			81					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	c.241C>T	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312156	0.81358	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000380921	T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16;-1.16;-1.16	5.71	5.71	0.89125	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.051086	0.85682	D	0.000000	D	0.88876	0.6556	M	0.78801	2.425	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	P;D;P	0.81914	0.684;0.995;0.761	D	0.89424	0.3712	10	0.87932	D	0	.	19.8772	0.96880	0.0:0.0:1.0:0.0	.	81;81;81	Q5VW27;Q5VW29;O00712	.;.;NFIB_HUMAN	C	107;81;81;81;81;81;81	ENSP00000370321:R107C;ENSP00000370346:R81C;ENSP00000370340:R81C;ENSP00000380705:R81C;ENSP00000380711:R81C;ENSP00000380709:R81C;ENSP00000370308:R81C	ENSP00000370308:R81C	R	-	1	0	NFIB	14297309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.903000	0.87398	2.686000	0.91538	0.650000	0.86243	CGC		0.493	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		32	7	0	0	0	1	0	32	7					A	14307309	G	A	14307309	3	1	1	1	0	0	0	0	1	0	0	0	10380	1087	38	1	1053	1	NFIB	9	14307309	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08		14307309	126906122	32	32										
NRAP	4892	broad.mit.edu	37	chr10	115402734	115402734	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	cttgctcacgttcctgaattGaggtgtttcacagtagttga	10	8	2	3			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr10:115402734G>A	ENST00000359988.3	-	12	1418	c.1174C>T	c.(1174-1176)Caa>Taa	p.Q392*	NRAP_ENST00000369360.3_Intron|NRAP_ENST00000369358.4_Nonsense_Mutation_p.Q392*|NRAP_ENST00000360478.3_Intron	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)		TTCCTGAATTGAGGTGTTTCA	0.408																																						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.(1174-1176)Caa>Taa		nebulin-related anchoring protein							256	214	228					10																	115402734		2203	4300	6503	SO:0001587	stop_gained	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115402734G>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.1174C>T	10.37:g.115402734G>A	ENSP00000353078:p.Gln392*		Somatic				NRAP_ENST00000359988.3_Nonsense_Mutation_p.Q392*|NRAP_ENST00000369360.3_Intron|NRAP_ENST00000360478.3_Intron	p.Q392*			WXS	Illumina GAIIx	Phase_I	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	12	1418	-		Colorectal(252;0.0233)|Breast(234;0.188)	392						Nonsense_Mutation	SNP	ENST00000359988.3	37	c.1174C>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	40	8.257318	0.98729	.	.	ENSG00000197893	ENST00000369358;ENST00000359988;ENST00000369350;ENST00000369343	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	.	.	.	X	392;392;121;121	.	ENSP00000353078:Q392X	Q	-	1	0	NRAP	115392724	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.038000	0.93771	2.937000	0.99478	0.650000	0.86243	CAA		0.408	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		21	66	0	0	0	1	0	21	66					A	115402734	G	A	115402734	4	1	1	1	0	0	0	0	0	1	0	0	10647	1299	45	3	4142	3	NRAP	10	115402734	Nonsense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08		115402734	20132013	33	33										
ATE1	11101	broad.mit.edu	37	chr10	123503221	123503236	+	Frame_Shift_Del	DEL	CGGAGCACTTCTGCCC	CGGAGCACTTCTGCCC	-													0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	tctgaacagcagcatccgctCggagcacttctgccccacca					rs146965571	byFrequency	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr10:123503221_123503236delCGGAGCACTTCTGCCC	ENST00000224652.6	-	12	1601_1616	c.1516_1531delGGGCAGAAGTGCTCCG	c.(1516-1533)gggcagaagtgctccgagfs	p.GQKCSE506fs	ATE1_ENST00000369040.3_Frame_Shift_Del_p.GQKCSE410fs|ATE1_ENST00000543447.1_Frame_Shift_Del_p.GQKCSE391fs|ATE1_ENST00000369043.3_Frame_Shift_Del_p.GQKCSE506fs|ATE1_ENST00000540606.1_Frame_Shift_Del_p.GQKCSE499fs|ATE1_ENST00000535655.1_Frame_Shift_Del_p.GQKCSE207fs	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	506					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)				AGCATCCGCTCGGAGCACTTCTGCCCCACCAGGCTG	0.519																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1516-1533)agfs		arginyltransferase 1																																				SO:0001589	frameshift_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123503221_123503236delCGGAGCACTTCTGCCC	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.1516_1531delGGGCAGAAGTGCTCCG	10.37:g.123503221_123503236delCGGAGCACTTCTGCCC	ENSP00000224652:p.Gly506fs		Somatic				ATE1_ENST00000369040.3_Frame_Shift_Del_p.GQKCSE410fs|ATE1_ENST00000535655.1_Frame_Shift_Del_p.GQKCSE207fs|ATE1_ENST00000224652.6_Frame_Shift_Del_p.GQKCSE506fs|ATE1_ENST00000540606.1_Frame_Shift_Del_p.GQKCSE499fs|ATE1_ENST00000543447.1_Frame_Shift_Del_p.GQKCSE391fs	p.GQKCSE506fs	NM_007041.2	NP_008972.2	WXS	Illumina GAIIx	Phase_I	O95260	ATE1_HUMAN			12	1602_1617	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	506					O95261|Q5SQQ3|Q8WW04	Frame_Shift_Del	DEL	ENST00000224652.6	37	c.1516_1531delGGGCAGAAGTGCTCCG	CCDS31300.1																																																																																				0.519	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		14	50						14	50	---	---	---	---	-	123503236	CGGAGCACTTCTGCCC	-	123503221	7	5	1	1	0	1	0	1	0	0	0	0	1078	893	31	0	29	0	ATE1	10	123503221	Frame_Shift_Del	DEL	CGGAGCACTTCTGCCC	TCGA-N5-A4R8-01A-11D-A28R-08	8100487	123503221	12031526	34	34										
AHNAK	79026	broad.mit.edu	37	chr11	62293798	62293798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	gctttgatattcatctctggCatcttgaacttaggcccttt	7	10	3	2			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr11:62293798C>A	ENST00000378024.4	-	5	8365	c.8091G>T	c.(8089-8091)atG>atT	p.M2697I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2697					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)				TCATCTCTGGCATCTTGAACT	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.(8089-8091)atG>atT		AHNAK nucleoprotein							189	186	187					11																	62293798		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62293798C>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.8091G>T	11.37:g.62293798C>A	ENSP00000367263:p.Met2697Ile		Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.M2697I	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	8365	-		Melanoma(852;0.155)	2697					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.8091G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	15.65	2.897126	0.52121	.	.	ENSG00000124942	ENST00000378024	T	0.01527	4.8	4.61	4.61	0.57282	.	.	.	.	.	T	0.13500	0.0327	M	0.93150	3.385	0.37700	D	0.924161	P	0.50156	0.932	P	0.60236	0.871	T	0.20140	-1.0284	9	0.36615	T	0.2	-18.8369	17.1379	0.86744	0.0:1.0:0.0:0.0	.	2697	Q09666	AHNK_HUMAN	I	2697	ENSP00000367263:M2697I	ENSP00000367263:M2697I	M	-	3	0	AHNAK	62050374	0.995000	0.38212	1.000000	0.80357	0.671000	0.39405	0.920000	0.28705	2.122000	0.65172	0.473000	0.43528	ATG		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		145	77	1	0	5.4523e-64	1	6.46487e-64	145	77					A	62293798	C	A	62293798	3	1	1	1	0	0	0	0	1	0	0	0	414	710	25	5	9701	5	AHNAK	11	62293798	Missense_Mutation	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08		62293798	72712718	35	35										
RAD9A	5883	broad.mit.edu	37	chr11	67164804	67164804	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	gccccggtccccactccgagGaggaagatgaggctgagccc	14	15	0	3			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr11:67164804G>C	ENST00000307980.2	+	10	1120	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	RAD9A_ENST00000535644.1_3'UTR|RNU6-1238P_ENST00000517215.1_RNA|PPP1CA_ENST00000532446.1_5'Flank	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	343	Sufficient for interaction with ABL1.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CCACTCCGAGGAGGAAGATGA	0.642								Other conserved DNA damage response genes																														ENST00000307980.2																			0				lung(7)|upper_aerodigestive_tract(1)	8						c.(1027-1029)Gag>Cag	Other conserved DNA damage response genes	RAD9 homolog A (S. pombe)							17	19	19					11																	67164804		2192	4294	6486	SO:0001583	missense	5883				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding	g.chr11:67164804G>C	U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"RAD9 (S. pombe) homolog"	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.1027G>C	11.37:g.67164804G>C	ENSP00000311360:p.Glu343Gln		Somatic				RAD9A_ENST00000535644.1_3'UTR	p.E343Q	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	WXS	Illumina GAIIx	Phase_I	Q99638	RAD9A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		10	1120	+			343			Sufficient for interaction with ABL1.		B2RCZ8|Q6FI29|Q96C41	Missense_Mutation	SNP	ENST00000307980.2	37	c.1027G>C	CCDS8159.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575474	0.28092	.	.	ENSG00000172613	ENST00000307980	T	0.15372	2.43	4.92	3.96	0.45880	.	0.226724	0.44285	D	0.000478	T	0.11153	0.0272	L	0.29908	0.895	0.24587	N	0.993844	P	0.45348	0.856	B	0.38803	0.282	T	0.20538	-1.0272	10	0.18276	T	0.48	.	11.8151	0.52204	0.0:0.0:0.8251:0.1749	.	343	Q99638	RAD9A_HUMAN	Q	343	ENSP00000311360:E343Q	ENSP00000311360:E343Q	E	+	1	0	RAD9A	66921380	1.000000	0.71417	0.993000	0.49108	0.598000	0.36846	3.697000	0.54764	2.272000	0.75746	0.462000	0.41574	GAG		0.642	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395481.2	NM_004584		4	12	0	0	0	1	0	4	12					C	67164804	G	C	67164804	3	2	1	1	0	0	0	0	1	0	0	0	13010	1175	41	2	1065	2	RAD9A	11	67164804	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08	4871006	67164804	67841712	36	36										
AKAP3	10566	broad.mit.edu	37	chr12	4737296	4737296	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	ctcccgaggaaagaaccttcCaccctctctggcataatctc	6	16	2	1			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:4737296C>A	ENST00000545990.2	-	5	1296	c.772G>T	c.(772-774)Gga>Tga	p.G258*	AKAP3_ENST00000228850.1_Nonsense_Mutation_p.G258*|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	258					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AAGAACCTTCCACCCTCTCTG	0.458																																						ENST00000545990.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(772-774)Gga>Tga		A kinase (PRKA) anchor protein 3							91	89	89					12																	4737296		2203	4300	6503	SO:0001587	stop_gained	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4737296C>A	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.772G>T	12.37:g.4737296C>A	ENSP00000440994:p.Gly258*		Somatic				AKAP3_ENST00000228850.1_Nonsense_Mutation_p.G258*	p.G258*	NM_001278309.1	NP_001265238.1	WXS	Illumina GAIIx	Phase_I	O75969	AKAP3_HUMAN			5	1296	-			258					O75945|Q86X01|Q9UM61	Nonsense_Mutation	SNP	ENST00000545990.2	37	c.772G>T	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032617	0.75504	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	.	.	.	4.88	1.9	0.25705	.	0.593597	0.16197	N	0.225136	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-3.0677	7.0682	0.25164	0.0:0.6084:0.0:0.3916	.	.	.	.	X	258	.	ENSP00000228850:G258X	G	-	1	0	AKAP3	4607557	0.012000	0.17670	0.015000	0.15790	0.011000	0.07611	0.916000	0.28651	0.287000	0.22375	-0.345000	0.07892	GGA		0.458	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		33	188	1	0	2.81731e-10	1	2.92296e-10	33	188					A	4737296	C	A	4737296	4	1	1	1	0	0	0	0	0	1	0	0	452	603	21	5	1797	5	AKAP3	12	4737296	Nonsense_Mutation	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08		4737296	129114599	37	37										
KLRB1	3820	broad.mit.edu	37	chr12	9760429	9760429	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	ctcagcatatattgcttgttGgtccatggcagacagaggaa	11	8	1	2			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:9760429G>T	ENST00000229402.3	-	1	53	c.7C>A	c.(7-9)Caa>Aaa	p.Q3K		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	3					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(6)|lung(4)	12						ATTGCTTGTTGGTCCATGGCA	0.438																																						ENST00000229402.3																			0				endometrium(2)|large_intestine(6)|lung(4)	12						c.(7-9)Caa>Aaa		killer cell lectin-like receptor subfamily B, member 1							202	157	172					12																	9760429		2203	4300	6503	SO:0001583	missense	3820				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9760429G>T	U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"Killer cell lectin-like receptors", "CD molecules", "C-type lectin domain containing"	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.7C>A	12.37:g.9760429G>T	ENSP00000229402:p.Gln3Lys		Somatic					p.Q3K	NM_002258.2	NP_002249.1	WXS	Illumina GAIIx	Phase_I	Q12918	KLRB1_HUMAN			1	53	-			3					Q24K24	Missense_Mutation	SNP	ENST00000229402.3	37	c.7C>A	CCDS8601.1	.	.	.	.	.	.	.	.	.	.	G	2.143	-0.396223	0.04899	.	.	ENSG00000111796	ENST00000229402	T	0.02103	4.45	2.89	-1.31	0.09230	.	1.879010	0.03438	N	0.208888	T	0.01254	0.0041	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.14023	0.01	T	0.42396	-0.9454	10	0.06494	T	0.89	1.7997	5.0798	0.14651	0.0:0.1345:0.5318:0.3336	.	3	Q12918	KLRB1_HUMAN	K	3	ENSP00000229402:Q3K	ENSP00000229402:Q3K	Q	-	1	0	KLRB1	9651696	0.000000	0.05858	0.006000	0.13384	0.009000	0.06853	-1.490000	0.02304	-0.272000	0.09259	-0.467000	0.05162	CAA		0.438	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400280.1	NM_002258		42	81	1	0	8.01111e-26	1	9.23503e-26	42	81					T	9760429	G	T	9760429	3	4	1	1	0	0	0	0	1	0	0	0	8423	1357	47	5	693	5	KLRB1	12	9760429	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08	5023133	9760429	124091466	38	38										
SLC25A3	5250	broad.mit.edu	37	chr12	98987870	98987870	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	agctccccagggcccacgggCcagccccgccgccctcgcaa	11	22	0	0			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:98987870C>G	ENST00000228318.3	+	2	234	c.114C>G	c.(112-114)ggC>ggG	p.G38G	SLC25A3_ENST00000552981.1_Silent_p.G38G|SLC25A3_ENST00000401722.3_Silent_p.G38G|SLC25A3_ENST00000188376.5_Silent_p.G38G|SLC25A3_ENST00000549338.1_Silent_p.G38G|SLC25A3_ENST00000547534.1_Silent_p.G38G|SLC25A3_ENST00000551917.1_Silent_p.G38G|SLC25A3_ENST00000548847.1_Silent_p.G38G|SLC25A3_ENST00000551265.1_Silent_p.G38G	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	38					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)		GGCCCACGGGCCAGCCCCGCC	0.697																																						ENST00000188376.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16						c.(112-114)ggC>ggG		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3							14	14	14					12																	98987870		2197	4292	6489	SO:0001819	synonymous_variant	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98987870C>G		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.114C>G	12.37:g.98987870C>G			Somatic				SLC25A3_ENST00000551917.1_Silent_p.G38G|SLC25A3_ENST00000551265.1_Silent_p.G38G|SLC25A3_ENST00000549338.1_Silent_p.G38G|SLC25A3_ENST00000548847.1_Silent_p.G38G|SLC25A3_ENST00000552981.1_Silent_p.G38G|SLC25A3_ENST00000547534.1_Silent_p.G38G|SLC25A3_ENST00000228318.3_Silent_p.G38G|SLC25A3_ENST00000401722.3_Silent_p.G38G	p.G38G	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)	1	468	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	38					B3KS34|Q7Z7N7|Q96A03	Silent	SNP	ENST00000228318.3	37	c.114C>G	CCDS9066.1																																																																																				0.697	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		14	31	0	0	0	1	0	14	31					G	98987870	C	G	98987870	2	3	1	1	0	0	0	0	0	0	0	1	14508	726	26	5		5	SLC25A3	12	98987870	Silent	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08	89227441	98987870	34864025	39	39										
DACH1	1602	broad.mit.edu	37	chr13	72204835	72204835	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	agcagcagcagctgctgcagCggctgctgtcagaccttaaa	12	12	1	1			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr13:72204835C>G	ENST00000359684.2	-	3	984	c.985G>C	c.(985-987)Gct>Cct	p.A329P	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000305425.4_Missense_Mutation_p.A329P|DACH1_ENST00000313174.7_Missense_Mutation_p.A329P			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	329	Interaction with SIX6 and HDAC3. {ECO:0000250}.|Poly-Ala.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		gctgctgcagcggctgcTGTC	0.358																																						ENST00000305425.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(985-987)Gct>Cct		dachshund homolog 1 (Drosophila)							89	80	82					13																	72204835		1804	4062	5866	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72204835C>G	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.985G>C	13.37:g.72204835C>G	ENSP00000352712:p.Ala329Pro		Somatic				DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.A329P|DACH1_ENST00000313174.7_Missense_Mutation_p.A329P	p.A329P	NM_080759.4	NP_542937.2	WXS	Illumina GAIIx	Phase_I	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	3	1407	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	327			Interaction with SIX6 and HDAC3 (By similarity).|Poly-Ala.		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.985G>C		.	.	.	.	.	.	.	.	.	.	C	28.8	4.954583	0.92726	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000359684;ENST00000377826	T;T;T	0.38077	1.16;1.33;1.19	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.53562	0.1804	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	0.24905	-1.0147	10	0.27082	T	0.32	-10.1466	20.4702	0.99162	0.0:1.0:0.0:0.0	.	327;327	Q9UI36-3;Q9UI36-2	.;.	P	329	ENSP00000304994:A329P;ENSP00000318506:A329P;ENSP00000352712:A329P	ENSP00000304994:A329P	A	-	1	0	DACH1	71102836	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.131000	0.71670	2.937000	0.99478	0.650000	0.86243	GCT		0.358	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		42	82	0	0	0	1	0	42	82					G	72204835	C	G	72204835	3	3	1	1	0	0	0	0	1	0	0	0	4222	768	27	5	1177	5	DACH1	13	72204835	Missense_Mutation	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08		72204835	42965043	40	40										
FLVCR2	55640	broad.mit.edu	37	chr14	76091051	76091051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	atacttaggttccatcgcccGgctcttcaaaaatctcaact	5	13	3	0	rs199824003		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr14:76091051G>A	ENST00000238667.4	+	3	1264	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000556856.1_Missense_Mutation_p.R51Q|FLVCR2_ENST00000553587.1_Missense_Mutation_p.R51Q|FLVCR2_ENST00000539311.1_Missense_Mutation_p.R98Q	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	303					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)		TCCATCGCCCGGCTCTTCAAA	0.483																																						ENST00000238667.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(907-909)cGg>cAg		feline leukemia virus subgroup C cellular receptor family, member 2							114	109	111					14																	76091051		2203	4300	6503	SO:0001583	missense	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76091051G>A	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.908G>A	14.37:g.76091051G>A	ENSP00000238667:p.Arg303Gln		Somatic				FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000553587.1_Missense_Mutation_p.R51Q|FLVCR2_ENST00000539311.1_Missense_Mutation_p.R98Q|FLVCR2_ENST00000556856.1_Missense_Mutation_p.R51Q	p.R303Q	NM_017791.2	NP_060261.2	WXS	Illumina GAIIx	Phase_I	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	3	1264	+			303					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	ENST00000238667.4	37	c.908G>A	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669141	0.47677	.	.	ENSG00000119686	ENST00000238667;ENST00000539311;ENST00000555058;ENST00000553587;ENST00000556856	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	6.02	5.13	0.70059	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.046453	0.85682	N	0.000000	T	0.56217	0.1970	M	0.67700	2.07	0.80722	D	1	B;B	0.26041	0.14;0.007	B;B	0.28232	0.087;0.025	T	0.53019	-0.8497	10	0.08599	T	0.76	-1.9448	17.3623	0.87354	0.0671:0.0:0.9329:0.0	.	98;303	B7Z485;Q9UPI3	.;FLVC2_HUMAN	Q	303;98;51;51;51	ENSP00000238667:R303Q;ENSP00000443439:R98Q;ENSP00000451104:R51Q;ENSP00000451603:R51Q;ENSP00000452468:R51Q	ENSP00000238667:R303Q	R	+	2	0	AC007182.1	75160804	1.000000	0.71417	0.990000	0.47175	0.726000	0.41606	5.774000	0.68906	0.899000	0.36444	-0.797000	0.03246	CGG		0.483	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		83	2	0	0	0	1	0	83	2					A	76091051	G	A	76091051	3	1	1	1	0	0	0	0	1	0	0	0	5954	1116	39	1	918	1	FLVCR2	14	76091051	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08		76091051	31258489	41	41										
TPSG1	8912	broad.mit.edu	37	chr16	1271916	1271916	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	agccaggagggggagcctggGgtacccagactctgagcccc	16	13	1	2			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:1271916G>A	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Missense_Mutation_p.P280S	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)	GGGAGCCTGGGGTACCCAGAC	0.652																																						ENST00000234798.4																			0				liver(1)|lung(2)|skin(1)	4						c.(838-840)Ccc>Tcc		tryptase gamma 1							32	41	38					16																	1271916		2194	4299	6493	SO:0001628	intergenic_variant	25823				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr16:1271916G>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.1271916G>A			Somatic					p.P280S	NM_012467.3	NP_036599.3	WXS	Illumina GAIIx	Phase_I	Q9NRR2	TRYG1_HUMAN			6	842	-		Hepatocellular(780;0.00369)	280					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.838C>T	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	g	14.58	2.576389	0.45902	.	.	ENSG00000116176	ENST00000234798	D	0.87256	-2.23	3.97	-5.37	0.02681	.	.	.	.	.	T	0.71239	0.3316	N	0.17082	0.46	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.55617	-0.8113	9	0.37606	T	0.19	.	5.3689	0.16129	0.1016:0.1043:0.6171:0.177	.	280	Q9NRR2	TRYG1_HUMAN	S	280	ENSP00000234798:P280S	ENSP00000234798:P280S	P	-	1	0	TPSG1	1211917	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.684000	0.25364	-0.691000	0.05135	0.580000	0.79431	CCC		0.652	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		20	20	0	0	0	1	0	20	20					A	1271916	G	A	1271916	1	1	1	0	1	0	0	0	0	0	0	0	16441	1232	43	3		3	TPSG1	16	1271916	IGR	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08		1271916	89082837	42	42										
PPL	5493	broad.mit.edu	37	chr16	4944606	4944606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	gcagggtgtagctgtagcccCgcgagatcaggccctggcgg	17	12	1	1			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:4944606C>T	ENST00000345988.2	-	12	1345	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	PPL_ENST00000590782.2_Missense_Mutation_p.R417Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	419					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCTGTAGCCCCGCGAGATCAG	0.647																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(1255-1257)cGg>cAg		periplakin							82	65	71					16																	4944606		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4944606C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1256G>A	16.37:g.4944606C>T	ENSP00000340510:p.Arg419Gln		Somatic				PPL_ENST00000590782.2_Missense_Mutation_p.R417Q	p.R419Q	NM_002705.4	NP_002696.3	WXS	Illumina GAIIx	Phase_I	O60437	PEPL_HUMAN			12	1345	-			419					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.1256G>A	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407678	0.83340	.	.	ENSG00000118898	ENST00000345988	T	0.74842	-0.88	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.82572	0.5066	L	0.43923	1.385	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.82675	-0.0340	10	0.54805	T	0.06	.	19.1278	0.93393	0.0:1.0:0.0:0.0	.	419	O60437	PEPL_HUMAN	Q	419	ENSP00000340510:R419Q	ENSP00000340510:R419Q	R	-	2	0	PPL	4884607	1.000000	0.71417	0.861000	0.33841	0.385000	0.30292	7.182000	0.77689	2.756000	0.94617	0.561000	0.74099	CGG		0.647	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		24	35	0	0	0	1	0	24	35					T	4944606	C	T	4944606	3	4	1	1	0	0	0	0	1	0	0	0	12346	652	23	1	4058	1	PPL	16	4944606	Missense_Mutation	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08	3672690	4944606	85410147	43	43										
C16orf63	123811	broad.mit.edu	37	chr16	15978005	15978005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	gggcattgaaaacttcagctCggatccttgcttttaaatgc	9	9	1	1			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:15978005C>T	ENST00000255759.6	-	2	115	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	CTA-972D3.2_ENST00000573856.1_RNA|FOPNL_ENST00000575744.1_Intron|FOPNL_ENST00000575073.1_Missense_Mutation_p.R29Q|FOPNL_ENST00000573396.1_Missense_Mutation_p.R29Q|FOPNL_ENST00000573968.1_Missense_Mutation_p.R29Q|FOPNL_ENST00000573429.1_Missense_Mutation_p.R29Q	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	29	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly (GO:0042384)|microtubule anchoring (GO:0034453)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						AACTTCAGCTCGGATCCTTGC	0.358																																						ENST00000255759.6																			0				breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						c.(85-87)cGa>cAa		FGFR1OP N-terminal like							79	83	82					16																	15978005		2197	4300	6497	SO:0001583	missense	123811				cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding	g.chr16:15978005C>T	AL832498	CCDS10567.1	16p13.11	2011-03-18	2011-03-18	2011-03-18	ENSG00000133393	ENSG00000133393			26435	protein-coding gene	gene with protein product	"pluripotent embryonic stem cell-related protein", "FOP-related protein of 20 kDa"		"chromosome 16 open reading frame 63"	C16orf63		12477932	Standard	NM_144600		Approved	DKFZp686N1651, FLJ31153, PHSECRG2, FOR20	uc002dec.1	Q96NB1	OTTHUMG00000129923	ENST00000255759.6:c.86G>A	16.37:g.15978005C>T	ENSP00000255759:p.Arg29Gln		Somatic				FOPNL_ENST00000575744.1_Intron|FOPNL_ENST00000575073.1_Missense_Mutation_p.R29Q|FOPNL_ENST00000573396.1_Missense_Mutation_p.R29Q|FOPNL_ENST00000573429.1_Missense_Mutation_p.R29Q|FOPNL_ENST00000573968.1_Missense_Mutation_p.R29Q	p.R29Q	NM_144600.2	NP_653201.1	WXS	Illumina GAIIx	Phase_I	Q96NB1	FOPNL_HUMAN			2	115	-			29			Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.		B3KPU9	Missense_Mutation	SNP	ENST00000255759.6	37	c.86G>A	CCDS10567.1	.	.	.	.	.	.	.	.	.	.	c	29.8	5.039328	0.93630	.	.	ENSG00000133393	ENST00000255759	.	.	.	5.96	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.81555	0.4847	M	0.90082	3.085	0.42665	D	0.993492	D;D	0.89917	1.0;1.0	D;D	0.74023	0.94;0.982	D	0.85468	0.1171	9	0.72032	D	0.01	-1.5456	12.7977	0.57567	0.0:0.9249:0.0:0.0751	.	29;29	B3KPU9;Q96NB1	.;FOPNL_HUMAN	Q	29	.	ENSP00000255759:R29Q	R	-	2	0	FOPNL	15885506	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.102000	0.77005	1.548000	0.49413	-0.175000	0.13238	CGA		0.358	FOPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252177.2	NM_144600		19	22	0	0	0	1	0	19	22					T	15978005	C	T	15978005	3	4	1	1	0	0	0	0	1	0	0	0	1828	884	31	1	454	1	C16orf63	16	15978005	Missense_Mutation	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08	11033399	15978005	74376748	44	44										
ANKS4B	257629	broad.mit.edu	37	chr16	21261508	21261508	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	attaaagacactttcaagatCaagttcaagaagaacaaaga	6	6	3	5			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:21261508C>A	ENST00000311620.5	+	2	694	c.621C>A	c.(619-621)atC>atA	p.I207I		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	207					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTTTCAAGATCAAGTTCAAGA	0.473																																						ENST00000311620.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20						c.(619-621)atC>atA		ankyrin repeat and sterile alpha motif domain containing 4B							100	104	102					16																	21261508		1977	4167	6144	SO:0001819	synonymous_variant	257629							g.chr16:21261508C>A	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.621C>A	16.37:g.21261508C>A			Somatic					p.I207I	NM_145865.2	NP_665872.2	WXS	Illumina GAIIx	Phase_I	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	2	694	+			207						Silent	SNP	ENST00000311620.5	37	c.621C>A	CCDS42130.1																																																																																				0.473	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		3	42	1	0	1	1	1	3	42					A	21261508	C	A	21261508	2	1	1	1	0	0	0	0	0	0	0	1	691	816	29	2		2	ANKS4B	16	21261508	Silent	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08	5283503	21261508	69093245	45	45										
SIAH1	6477	broad.mit.edu	37	chr16	48395912	48395912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	gcatcagatggggcattacaGcatccagagagccttgccat	11	11	1	2			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:48395912G>A	ENST00000380006.2	-	1	1881	c.428C>T	c.(427-429)gCt>gTt	p.A143V	SIAH1_ENST00000356721.3_Missense_Mutation_p.A174V|SIAH1_ENST00000394725.2_Missense_Mutation_p.A143V|SIAH1_ENST00000573005.1_5'Flank			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	143	SBD.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GGGCATTACAGCATCCAGAGA	0.468																																						ENST00000380006.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7						c.(427-429)gCt>gTt		siah E3 ubiquitin protein ligase 1							86	70	75					16																	48395912		2200	4300	6500	SO:0001583	missense	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48395912G>A	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"seven in absentia homolog 1 (Drosophila)"			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.428C>T	16.37:g.48395912G>A	ENSP00000369343:p.Ala143Val		Somatic				SIAH1_ENST00000356721.3_Missense_Mutation_p.A174V|SIAH1_ENST00000394725.2_Missense_Mutation_p.A143V	p.A143V			WXS	Illumina GAIIx	Phase_I	Q8IUQ4	SIAH1_HUMAN			1	1881	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	143			SBD.		A0FKF3|O43269|Q49A58|Q92880	Missense_Mutation	SNP	ENST00000380006.2	37	c.428C>T	CCDS10735.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297120	0.60086	.	.	ENSG00000196470	ENST00000356721;ENST00000394725;ENST00000380006	T;T	0.26810	1.71;1.71	5.2	5.2	0.72013	Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);Seven In Absentia Homolog-type (1);Zinc finger, SIAH-type (1);	0.000000	0.85682	U	0.000000	T	0.25901	0.0631	L	0.56340	1.77	0.80722	D	1	P;P	0.38582	0.543;0.638	B;B	0.34931	0.192;0.169	T	0.04946	-1.0916	10	0.15952	T	0.53	-4.5946	19.0874	0.93209	0.0:0.0:1.0:0.0	.	143;174	Q8IUQ4;Q8IUQ4-2	SIAH1_HUMAN;.	V	174;143;159	ENSP00000349156:A174V;ENSP00000378214:A143V	ENSP00000349156:A174V	A	-	2	0	SIAH1	46953413	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.813000	0.99286	2.590000	0.87494	0.655000	0.94253	GCT		0.468	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			3	41	0	0	0	1	0	3	41					A	48395912	G	A	48395912	3	1	1	1	0	0	0	0	1	0	0	0	14314	971	34	3	424	3	SIAH1	16	48395912	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08	27134404	48395912	41958841	46	46										
USP10	9100	broad.mit.edu	37	chr16	84801887	84801887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	atatccagtcagacaagataCgcacagtccaggatgcactg	9	11	1	2	rs377254205		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:84801887C>T	ENST00000219473.7	+	11	2034	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C	USP10_ENST00000570191.1_Missense_Mutation_p.R645C	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	641	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						AGACAAGATACGCACAGTCCA	0.428																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(1921-1923)Cgc>Tgc		ubiquitin specific peptidase 10		C	CYS/ARG	1,3809		0,1,1904	36	33	34		1921	5.5	0.9	16		34	0,8246		0,0,4123	no	missense	USP10	NM_005153.2	180	0,1,6027	TT,TC,CC		0.0,0.0262,0.0083	benign	641/799	84801887	1,12055	1905	4123	6028	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.chr16:84801887C>T	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1921C>T	16.37:g.84801887C>T	ENSP00000219473:p.Arg641Cys		Somatic				USP10_ENST00000570191.1_Missense_Mutation_p.R645C	p.R641C	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	WXS	Illumina GAIIx	Phase_I	Q14694	UBP10_HUMAN			11	2034	+			641					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.1921C>T	CCDS45537.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.30|16.30	3.083157|3.083157	0.55861|0.55861	2.62E-4|2.62E-4	0.0|0.0	ENSG00000103194|ENSG00000103194	ENST00000219473|ENST00000397953	T|.	0.29142|.	1.58|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);|.	0.053824|.	0.85682|.	D|.	0.000000|.	T|T	0.57770|0.57770	0.2076|0.2076	N|N	0.17901|0.17901	0.54|0.54	0.80722|0.80722	D|D	1|1	B;B|.	0.31174|.	0.311;0.043|.	B;B|.	0.22152|.	0.038;0.035|.	T|T	0.62383|0.62383	-0.6866|-0.6866	10|6	0.40728|0.87932	T|D	0.16|0	-18.9364|-18.9364	18.7737|18.7737	0.91901|0.91901	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	645;641|.	Q14694-3;Q14694|.	.;UBP10_HUMAN|.	C|M	641|202	ENSP00000219473:R641C|.	ENSP00000219473:R641C|ENSP00000381044:T202M	R|T	+|+	1|2	0|0	USP10|USP10	83359388|83359388	1.000000|1.000000	0.71417|0.71417	0.878000|0.878000	0.34440|0.34440	0.591000|0.591000	0.36615|0.36615	7.322000|7.322000	0.79097|0.79097	2.746000|2.746000	0.94184|0.94184	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.428	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			10	7	0	0	0	1	0	10	7					T	84801887	C	T	84801887	3	4	1	1	0	0	0	0	1	0	0	0	17056	536	19	1	1963	1	USP10	16	84801887	Missense_Mutation	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08	36405975	84801887	5552866	47	47										
TP53	7157	broad.mit.edu	37	chr17	7578291	7578291	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	tgctgaggaggggccagaccTaagagcaatcagtgaggaat	15	7	1	4			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:7578291T>G	ENST00000269305.4	-	6	749		c.e6-2		TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(16)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	GGGCCAGACCTAAGAGCAATC	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"		30	Unknown(16)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	p.?(16)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)	lung(7)|bone(4)|upper_aerodigestive_tract(3)|haematopoietic_and_lymphoid_tissue(3)|liver(3)|central_nervous_system(2)|breast(2)|thyroid(1)|stomach(1)|kidney(1)|urinary_tract(1)|oesophagus(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	GRCh37	CS941545	TP53	S		c.e6-2	Other conserved DNA damage response genes	tumor protein p53							80	72	75					17																	7578291		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.chr17:7578291T>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.560-2A>C	17.37:g.7578291T>G		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_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_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)	6	692	-		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	8.608	0.888339	0.17540	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	3.68	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9475	0.47310	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519016	0.998000	0.40836	0.996000	0.52242	0.034000	0.12701	2.807000	0.47955	1.912000	0.55364	0.460000	0.39030	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	58	6	0	0	0	1	0	58	6					G	7578291	T	G	7578291	5	3	1	1	0	0	0	0	0	0	1	0	16396	1536	53	4	736	4	TP53	17	7578291	Splice_Site	SNP	T	TCGA-N5-A4R8-01A-11D-A28R-08		7578291	73616919	48	48										
EFNB3	1949	broad.mit.edu	37	chr17	7611523	7611523	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	tccaggagtatagccctaatCtctggggccacgagttccgc	11	13	1	0			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:7611523C>G	ENST00000226091.2	+	2	767	c.370C>G	c.(370-372)Ctc>Gtc	p.L124V		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	124	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TAGCCCTAATCTCTGGGGCCA	0.577																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(370-372)Ctc>Gtc		ephrin-B3							68	65	66					17																	7611523		2203	4300	6503	SO:0001583	missense	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7611523C>G	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"Ephrins"	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.370C>G	17.37:g.7611523C>G	ENSP00000226091:p.Leu124Val		Somatic					p.L124V	NM_001406.3	NP_001397.1	WXS	Illumina GAIIx	Phase_I	Q15768	EFNB3_HUMAN			2	767	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	124					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Missense_Mutation	SNP	ENST00000226091.2	37	c.370C>G	CCDS11120.1	.	.	.	.	.	.	.	.	.	.	c	12.58	1.981453	0.34942	.	.	ENSG00000108947	ENST00000226091	D	0.95171	-3.63	4.85	2.8	0.32819	Ephrin, conserved site (1);Cupredoxin (2);	0.000000	0.64402	D	0.000005	D	0.95274	0.8467	M	0.65498	2.005	0.32925	D	0.516415	D	0.57571	0.98	P	0.61477	0.889	D	0.95228	0.8340	10	0.66056	D	0.02	-18.1593	8.2302	0.31593	0.0:0.7419:0.0:0.2581	.	124	Q15768	EFNB3_HUMAN	V	124	ENSP00000226091:L124V	ENSP00000226091:L124V	L	+	1	0	EFNB3	7552248	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	1.730000	0.38125	1.256000	0.44068	0.472000	0.43445	CTC		0.577	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		44	115	0	0	0	1	0	44	115					G	7611523	C	G	7611523	3	3	1	1	0	0	0	0	1	0	0	0	4959	913	32	2	376	2	EFNB3	17	7611523	Missense_Mutation	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08	33232	7611523	73583687	49	49										
DNAH2	146754	broad.mit.edu	37	chr17	7671536	7671536	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	caaaaatagagcagttcaagAggaccatgcctctcatctca	7	11	3	2			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:7671536A>G	ENST00000572933.1	+	24	5352	c.3892A>G	c.(3892-3894)Agg>Ggg	p.R1298G	DNAH2_ENST00000389173.2_Missense_Mutation_p.R1298G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1298	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)				GCAGTTCAAGAGGACCATGCC	0.572																																						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.(3892-3894)Agg>Ggg		dynein, axonemal, heavy chain 2							121	120	121					17																	7671536		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.chr17:7671536A>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.3892A>G	17.37:g.7671536A>G	ENSP00000458355:p.Arg1298Gly		Somatic				DNAH2_ENST00000389173.2_Missense_Mutation_p.R1298G	p.R1298G			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			24	5352	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1298			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.3892A>G	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.660029	0.67586	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.61158	0.13	4.56	2.27	0.28462	Dynein heavy chain, domain-2 (1);	0.384630	0.23035	N	0.052687	T	0.66376	0.2783	M	0.61703	1.905	0.80722	D	1	D	0.53885	0.963	D	0.64321	0.924	T	0.63761	-0.6564	10	0.51188	T	0.08	.	7.3585	0.26733	0.7261:0.1787:0.0952:0.0	.	1298	Q9P225	DYH2_HUMAN	G	1298	ENSP00000373825:R1298G	ENSP00000353818:R1298G	R	+	1	2	DNAH2	7612261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.798000	0.38814	0.604000	0.29930	0.459000	0.35465	AGG		0.572	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		118	85	0	0	0	1	0	118	85					G	7671536	A	G	7671536	3	3	1	1	0	0	0	0	1	0	0	0	4604	295	11	4	3982	4	DNAH2	17	7671536	Missense_Mutation	SNP	A	TCGA-N5-A4R8-01A-11D-A28R-08	60013	7671536	73523674	50	50										
KRTAP3-1	83896	broad.mit.edu	37	chr17	39165215	39165215	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	ctgaaggaggctgatctcatGtgggcaggtgctgggtaggc	18	7	1	2			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:39165215G>T	ENST00000391588.1	-	1	151	c.112C>A	c.(112-114)Cat>Aat	p.H38N	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	38	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)				CTGATCTCATGTGGGCAGGTG	0.602																																						ENST00000391588.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8						c.(112-114)Cat>Aat		keratin associated protein 3-1							96	86	89					17																	39165215		2203	4296	6499	SO:0001583	missense	83896					keratin filament	structural molecule activity	g.chr17:39165215G>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.112C>A	17.37:g.39165215G>T	ENSP00000375430:p.His38Asn		Somatic				KRTAP3-1_ENST00000581033.1_5'UTR	p.H38N	NM_031958.1	NP_114164.1	WXS	Illumina GAIIx	Phase_I	Q9BYR8	KRA31_HUMAN			1	151	-		Breast(137;0.00043)	38			4 X 5 AA repeats of C-C-X(3).		Q14DM4	Missense_Mutation	SNP	ENST00000391588.1	37	c.112C>A	CCDS32645.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121327	0.77436	.	.	ENSG00000212901	ENST00000391588	T	0.29397	1.57	5.71	5.71	0.89125	.	0.000000	0.51477	D	0.000092	T	0.57446	0.2054	.	.	.	0.39969	D	0.974762	D	0.62365	0.991	D	0.76575	0.988	T	0.61941	-0.6959	9	0.72032	D	0.01	-14.6086	15.43	0.75084	0.0:0.0:1.0:0.0	.	38	Q9BYR8	KRA31_HUMAN	N	38	ENSP00000375430:H38N	ENSP00000375430:H38N	H	-	1	0	KRTAP3-1	36418741	0.988000	0.35896	0.995000	0.50966	0.999000	0.98932	4.313000	0.59160	2.707000	0.92482	0.632000	0.83419	CAT		0.602	KRTAP3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257699.1			28	86	1	0	5.61819e-17	1	6.13565e-17	28	86					T	39165215	G	T	39165215	3	4	1	1	0	0	0	0	1	0	0	0	8554	1377	48	5	188	5	KRTAP3-1	17	39165215	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08	31493679	39165215	42029995	51	51										
PSME3	10197	broad.mit.edu	37	chr17	40990780	40990780	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	gtacagctcctgattcccagGatagaagatggaaacaactt	9	9	0	3			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:40990780G>C	ENST00000590720.1	+	7	671	c.438G>C	c.(436-438)agG>agC	p.R146S	PSME3_ENST00000441946.2_Missense_Mutation_p.R157S|PSME3_ENST00000293362.3_Missense_Mutation_p.R159S|PSME3_ENST00000592169.1_Missense_Mutation_p.R90S|PSME3_ENST00000545225.1_Missense_Mutation_p.R85S|PSME3_ENST00000541124.1_3'UTR			P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	146					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)		TGATTCCCAGGATAGAAGATG	0.458																																						ENST00000293362.3																			0				NS(1)|cervix(1)|large_intestine(3)|lung(1)	6						c.(475-477)agG>agC		proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)							94	97	96					17																	40990780		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.chr17:40990780G>C	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.438G>C	17.37:g.40990780G>C	ENSP00000466794:p.Arg146Ser		Somatic				PSME3_ENST00000545225.1_Missense_Mutation_p.R85S|PSME3_ENST00000590720.1_Missense_Mutation_p.R146S|PSME3_ENST00000441946.2_Missense_Mutation_p.R157S|PSME3_ENST00000592169.1_Missense_Mutation_p.R90S|PSME3_ENST00000541124.1_3'UTR	p.R159S	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)	7	638	+		Breast(137;0.000143)	146					A8K9A3|O35563|P97373|Q12920|Q13172|Q9BQD9	Missense_Mutation	SNP	ENST00000590720.1	37	c.477G>C	CCDS45689.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.990835|3.990835	0.74703|0.74703	.|.	.|.	ENSG00000131467|ENSG00000131467	ENST00000543428|ENST00000545225;ENST00000293362;ENST00000441946	T|T;T	0.47177|0.51817	0.85|0.69;0.69	5.51|5.51	0.0427|0.0427	0.14218|0.14218	.|Proteasome activator pa28, REG beta subunit (2);	.|0.042172	.|0.85682	.|D	.|0.000000	T|T	0.52092|0.52092	0.1713|0.1713	M|M	0.85462|0.85462	2.755|2.755	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.42078	.|0.77;0.611;0.611;0.763	.|B;B;B;B	.|0.43508	.|0.422;0.272;0.272;0.311	T|T	0.58707|0.58707	-0.7589|-0.7589	7|10	0.72032|0.87932	D|D	0.01|0	-26.6103|-26.6103	9.6412|9.6412	0.39839|0.39839	0.4046:0.0:0.5954:0.0|0.4046:0.0:0.5954:0.0	.|.	.|85;146;146;159	.|B3KQ25;Q6FHK7;P61289;P61289-2	.|.;.;PSME3_HUMAN;.	H|S	109|85;159;146	ENSP00000437924:D109H|ENSP00000441682:R85S;ENSP00000293362:R159S	ENSP00000437924:D109H|ENSP00000293362:R159S	D|R	+|+	1|3	0|2	PSME3|PSME3	38244306|38244306	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.985000|0.985000	0.73830|0.73830	1.166000|1.166000	0.31834|0.31834	0.145000|0.145000	0.18977|0.18977	-0.258000|-0.258000	0.10820|0.10820	GAT|AGG		0.458	PSME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452430.1	NM_176863		51	45	0	0	0	1	0	51	45					C	40990780	G	C	40990780	3	2	1	1	0	0	0	0	1	0	0	0	12720	1165	41	2	503	2	PSME3	17	40990780	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08	1825565	40990780	40204430	52	52										
CCDC57	284001	broad.mit.edu	37	chr17	80141803	80141803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	ttacagttgatgcatcttcaCgaagtctaaacatagaaggg	9	7	3	2	rs557708547	byFrequency	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:80141803C>T	ENST00000389641.4	-	8	1094	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	CCDC57_ENST00000392343.3_Missense_Mutation_p.R353H|CCDC57_ENST00000392347.1_Missense_Mutation_p.R353H|CCDC57_ENST00000327026.3_5'UTR			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	353										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)			TGCATCTTCACGAAGTCTAAA	0.468													C|||	2	0.000399361	0	0.0014	5008	,	,		19351	0		0	False		,,,				2504	0.001					ENST00000392347.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(1057-1059)cGt>cAt		coiled-coil domain containing 57							86	83	84					17																	80141803		1978	4159	6137	SO:0001583	missense	284001							g.chr17:80141803C>T	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1058G>A	17.37:g.80141803C>T	ENSP00000374292:p.Arg353His		Somatic				CCDC57_ENST00000389641.4_Missense_Mutation_p.R353H|CCDC57_ENST00000392343.3_Missense_Mutation_p.R353H|CCDC57_ENST00000327026.3_5'UTR	p.R353H	NM_198082.2	NP_932348.2	WXS	Illumina GAIIx	Phase_I	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		8	1094	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		353					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.1058G>A		.	.	.	.	.	.	.	.	.	.	C	13.78	2.340033	0.41398	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.26518	2.89;2.89;1.73	4.92	1.78	0.24846	.	0.555807	0.16923	N	0.194003	T	0.19644	0.0472	L	0.60455	1.87	0.09310	N	1	P;P	0.45569	0.754;0.861	B;B	0.34346	0.105;0.18	T	0.14699	-1.0463	10	0.62326	D	0.03	-4.7761	7.3565	0.26721	0.0:0.6993:0.0:0.3007	.	353;353	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	H	353	ENSP00000374292:R353H;ENSP00000376158:R353H;ENSP00000376154:R353H	ENSP00000374292:R353H	R	-	2	0	CCDC57	77735092	0.015000	0.18098	0.008000	0.14137	0.590000	0.36582	0.367000	0.20382	0.581000	0.29539	0.585000	0.79938	CGT		0.468	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		17	23	0	0	0	1	0	17	23					T	80141803	C	T	80141803	3	4	1	1	0	0	0	0	1	0	0	0	2829	536	19	1	1729	1	CCDC57	17	80141803	Missense_Mutation	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08	39151023	80141803	1053407	53	53										
CALR	811	broad.mit.edu	37	chr19	13049506	13049506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	ggcccgccatgctgctatccGtgccgctgctgctcggcctc	12	18	0	0			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr19:13049506G>A	ENST00000316448.5	+	1	86	c.13G>A	c.(13-15)Gtg>Atg	p.V5M		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	5					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	GCTGCTATCCGTGCCGCTGCT	0.711											OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000316448.5																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10						c.(13-15)Gtg>Atg		calreticulin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						11	12	12					19																	13049506		2191	4282	6473	SO:0001583	missense	811				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	g.chr19:13049506G>A	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"Sicca syndrome antigen A (autoantigen Ro; calreticulin)", "autoantigen Ro"	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.13G>A	19.37:g.13049506G>A	ENSP00000320866:p.Val5Met		Somatic	OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	684		p.V5M	NM_004343.3	NP_004334.1	WXS	Illumina GAIIx	Phase_I	P27797	CALR_HUMAN			1	86	+			5					Q6IAT4|Q9UDG2	Missense_Mutation	SNP	ENST00000316448.5	37	c.13G>A	CCDS12288.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519877	0.44866	.	.	ENSG00000179218	ENST00000316448	T	0.53206	0.63	5.09	3.97	0.46021	.	0.469642	0.20466	N	0.091787	T	0.29783	0.0744	L	0.29908	0.895	0.20926	N	0.999824	B	0.12013	0.005	B	0.06405	0.002	T	0.03910	-1.0993	10	0.39692	T	0.17	-25.4382	3.624	0.08107	0.0905:0.1646:0.5744:0.1705	.	5	P27797	CALR_HUMAN	M	5	ENSP00000320866:V5M	ENSP00000320866:V5M	V	+	1	0	CALR	12910506	0.281000	0.24258	0.075000	0.20258	0.977000	0.68977	0.925000	0.28791	2.750000	0.94351	0.561000	0.74099	GTG		0.711	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		15	10	0	0	0	1	0	15	10					A	13049506	G	A	13049506	3	1	1	1	0	0	0	0	1	0	0	0	2594	1145	40	1	15	1	CALR	19	13049506	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08		13049506	46079477	54	54										
LAMA5	3911	broad.mit.edu	37	chr20	60913126	60913126	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	gcaccggtcacaatgaggtcCagcaaactcaggctggcata	11	12	2	1			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr20:60913126C>A	ENST00000252999.3	-	14	1903	c.1837G>T	c.(1837-1839)Gga>Tga	p.G613*		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	613	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)			CAATGAGGTCCAGCAAACTCA	0.652																																						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.(1837-1839)Gga>Tga		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						39	38	38					20																	60913126		2201	4294	6495	SO:0001587	stop_gained	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.chr20:60913126C>A	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.1837G>T	20.37:g.60913126C>A	ENSP00000252999:p.Gly613*		Somatic					p.G613*	NM_005560.3	NP_005551.3	WXS	Illumina GAIIx	Phase_I	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		14	1903	-	Breast(26;1.57e-08)		613			Laminin EGF-like 6.		Q8TDF8|Q8WZA7|Q9H1P1	Nonsense_Mutation	SNP	ENST00000252999.3	37	c.1837G>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	38	6.879177	0.97904	.	.	ENSG00000130702	ENST00000252999	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.585	0.91185	0.0:1.0:0.0:0.0	.	.	.	.	X	613	.	ENSP00000252999:G613X	G	-	1	0	LAMA5	60346521	1.000000	0.71417	0.926000	0.36857	0.099000	0.18886	7.573000	0.82421	2.386000	0.81285	0.585000	0.79938	GGA		0.652	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		42	13	1	0	4.44401e-20	1	4.9845e-20	42	13					A	60913126	C	A	60913126	4	1	1	1	0	0	0	0	0	1	0	0	8618	603	21	5	9518	5	LAMA5	20	60913126	Nonsense_Mutation	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08		60913126	2112394	55	55										
PRAF2	11230	broad.mit.edu	37	chrX	48929638	48929638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	aatcttgttcttaaggttgcGcaggcgcaacgaggcgtgca	13	9	2	0			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:48929638G>A	ENST00000376390.4	-	3	510	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	PRAF2_ENST00000491199.1_5'UTR|AF196779.12_ENST00000376358.3_Missense_Mutation_p.R257C|WDR45_ENST00000553851.1_Missense_Mutation_p.R257C	NM_007213.1	NP_009144.1	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	143					L-glutamate transport (GO:0015813)|protein transport (GO:0015031)	endosome (GO:0005768)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						TTAAGGTTGCGCAGGCGCAAC	0.602																																						ENST00000376390.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(427-429)Cgc>Tgc		PRA1 domain family, member 2							96	68	77					X																	48929638		2203	4300	6503	SO:0001583	missense	11230							g.chrX:48929638G>A	BC021213	CCDS14317.1	Xp11.23	2008-02-05	2004-11-15		ENSG00000243279	ENSG00000243279			28911	protein-coding gene	gene with protein product		300840	"PRA1 domain family 2"			16481131	Standard	NM_007213		Approved	JM4		O60831	OTTHUMG00000034499	ENST00000376390.4:c.427C>T	X.37:g.48929638G>A	ENSP00000365570:p.Arg143Cys		Somatic				WDR45_ENST00000376358.3_Missense_Mutation_p.R257C|WDR45_ENST00000553851.1_Missense_Mutation_p.R257C|PRAF2_ENST00000491199.1_5'UTR	p.R143C	NM_007213.1	NP_009144.1	WXS	Illumina GAIIx	Phase_I					3	510	-								B2RD20	Missense_Mutation	SNP	ENST00000376390.4	37	c.427C>T	CCDS14317.1	.	.	.	.	.	.	.	.	.	.	.	18.00	3.524881	0.64747	.	.	ENSG00000243279;ENSG00000196998;ENSG00000250232	ENST00000376390;ENST00000553851;ENST00000376358	T;T;T	0.49432	0.78;0.78;0.78	3.98	2.06	0.26882	.	0.000000	0.64402	D	0.000005	T	0.46328	0.1387	M	0.85197	2.74	0.80722	D	1	P;B	0.39250	0.665;0.441	B;B	0.34722	0.188;0.118	T	0.46105	-0.9215	10	0.87932	D	0	-21.5501	7.0094	0.24853	0.102:0.0:0.722:0.1761	.	257;143	A6NM71;O60831	.;PRAF2_HUMAN	C	143;257;257	ENSP00000365570:R143C;ENSP00000451962:R257C;ENSP00000365536:R257C	ENSP00000365536:R257C	R	-	1	0	PRAF2;AF196779.12;WDR45	48816582	1.000000	0.71417	0.995000	0.50966	0.347000	0.29111	3.930000	0.56522	0.235000	0.21160	0.540000	0.68198	CGC		0.602	PRAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083415.2	NM_007213		26	34	0	0	0	1	0	26	34					A	48929638	G	A	48929638	3	1	1	1	0	0	0	0	1	0	0	0	12434	1087	38	1	113	1	PRAF2	23	48929638	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08		48929638	106340922	56	56										
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	19	5	1	2	rs143435240		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A			Somatic				NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	WXS	Illumina GAIIx	Phase_I	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		4	48	0	0	0	1	0	4	48					A	51076024	G	A	51076024	2	1	1	1	0	0	0	0	0	0	0	1	10735	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08	2146386	51076024	104194536	57	57										
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)	Somatic						NM_018159.3	NP_060629.2	WXS	Illumina GAIIx	Phase_I	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			8	8						8	8	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	1	1	0	1	0	1	0	0	0	0	10736	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-N5-A4R8-01A-11D-A28R-08	163272	51239296	104031264	58	58										
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-													0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	tgttcatccagactggcgttCtcctcctcctcctcgctctc							TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000338154.6_In_Frame_Del_p.E795del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del		Somatic				PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	p.E795del	NM_015107.2	NP_055922.1	WXS	Illumina GAIIx	Phase_I	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		8	150						8	150	---	---	---	---	-	54011407	CTC	-	54011405	7	5	1	1	0	1	0	1	0	0	0	0	11849	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-N5-A4R8-01A-11D-A28R-08	2772109	54011405	101259155	59	59										
HEPH	9843	broad.mit.edu	37	chrX	65418862	65418862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	gggcttccaagactccaatcGgatgcatggtatggggagta	14	8	0	1			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:65418862G>A	ENST00000343002.2	+	10	2520	c.1856G>A	c.(1855-1857)cGg>cAg	p.R619Q	HEPH_ENST00000519389.1_Missense_Mutation_p.R673Q|HEPH_ENST00000336279.5_Missense_Mutation_p.R352Q|HEPH_ENST00000374727.3_Missense_Mutation_p.R622Q|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000441993.2_Missense_Mutation_p.R622Q			Q9BQS7	HEPH_HUMAN	hephaestin	619	Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GACTCCAATCGGATGCATGGT	0.448																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2017-2019)cGg>cAg		hephaestin							142	129	133					X																	65418862		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65418862G>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1856G>A	X.37:g.65418862G>A	ENSP00000343939:p.Arg619Gln		Somatic				HEPH_ENST00000419594.1_Intron|HEPH_ENST00000374727.3_Missense_Mutation_p.R622Q|HEPH_ENST00000441993.2_Missense_Mutation_p.R622Q|HEPH_ENST00000336279.5_Missense_Mutation_p.R352Q|HEPH_ENST00000343002.2_Missense_Mutation_p.R619Q	p.R673Q			WXS	Illumina GAIIx	Phase_I	Q9BQS7	HEPH_HUMAN			11	2197	+			619			Plastocyanin-like 4.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.2018G>A		.	.	.	.	.	.	.	.	.	.	G	11.21	1.570611	0.28003	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002;ENST00000425114	D;D;D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07;-5.07;-5.07	4.92	-1.19	0.09585	Cupredoxin (2);	0.457206	0.21100	N	0.080164	D	0.95822	0.8640	L	0.49571	1.57	0.28574	N	0.910492	B;B	0.18610	0.029;0.003	B;B	0.11329	0.002;0.006	D	0.89090	0.3482	10	0.19147	T	0.46	.	10.0962	0.42478	0.6653:0.0:0.3347:0.0	.	673;619	E9PHN8;Q9BQS7	.;HEPH_HUMAN	Q	673;622;352;622;619;576	ENSP00000430620:R673Q;ENSP00000363859:R622Q;ENSP00000337418:R352Q;ENSP00000411687:R622Q;ENSP00000343939:R619Q;ENSP00000398078:R576Q	ENSP00000337418:R352Q	R	+	2	0	HEPH	65335587	0.637000	0.27216	0.990000	0.47175	0.659000	0.38960	-0.013000	0.12678	-0.254000	0.09500	0.415000	0.27848	CGG		0.448	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		42	47	0	0	0	1	0	42	47					A	65418862	G	A	65418862	3	1	1	1	0	0	0	0	1	0	0	0	7063	1116	39	1	2060	1	HEPH	23	65418862	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08	11407457	65418862	89851698	60	60										
SLC7A3	84889	broad.mit.edu	37	chrX	70148385	70148385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	gttgtgcacgtcccccttaaCgaagccagagatcatgacga	10	12	1	2			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:70148385C>T	ENST00000374299.3	-	4	772	c.628G>A	c.(628-630)Gtt>Att	p.V210I	SLC7A3_ENST00000298085.4_Missense_Mutation_p.V210I			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	210					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCCCCCTTAACGAAGCCAGAG	0.507																																						ENST00000374299.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31						c.(628-630)Gtt>Att		solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						68	49	55					X																	70148385		2203	4300	6503	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70148385C>T	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.628G>A	X.37:g.70148385C>T	ENSP00000363417:p.Val210Ile		Somatic				SLC7A3_ENST00000298085.4_Missense_Mutation_p.V210I	p.V210I			WXS	Illumina GAIIx	Phase_I	Q8WY07	CTR3_HUMAN			4	772	-	Renal(35;0.156)		210					D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.628G>A	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	T	3.445	-0.113253	0.06881	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.89415	-2.51;-2.51	4.95	2.57	0.30868	Amino acid permease domain (1);	0.173169	0.52532	N	0.000070	T	0.65123	0.2661	N	0.01464	-0.85	0.24630	N	0.993623	B	0.02656	0.0	B	0.04013	0.001	T	0.56481	-0.7972	10	0.02654	T	1	.	7.548	0.27778	0.0:0.3515:0.0:0.6485	.	210	Q8WY07	CTR3_HUMAN	I	210	ENSP00000363417:V210I;ENSP00000298085:V210I	ENSP00000298085:V210I	V	-	1	0	SLC7A3	70065110	1.000000	0.71417	0.998000	0.56505	0.849000	0.48306	0.810000	0.27183	-0.021000	0.14009	-0.573000	0.04149	GTT		0.507	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		9	6	0	0	0	1	0	9	6					T	70148385	C	T	70148385	3	4	1	1	0	0	0	0	1	0	0	0	14713	536	19	1	1267	1	SLC7A3	23	70148385	Missense_Mutation	SNP	C	TCGA-N5-A4R8-01A-11D-A28R-08	4729523	70148385	85122175	61	61										
TRMT2B	79979	broad.mit.edu	37	chrX	100278581	100278581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	aaggcagggctccaatggagActgtcgaaggaatacttcat	12	8	1	1			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:100278581A>G	ENST00000372936.3	-	8	1406	c.634T>C	c.(634-636)Tct>Cct	p.S212P	TRMT2B_ENST00000372939.1_Missense_Mutation_p.S167P|TRMT2B_ENST00000338687.7_Missense_Mutation_p.S167P|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372935.1_Missense_Mutation_p.S212P|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S212P|TRMT2B_ENST00000545398.1_Missense_Mutation_p.S212P	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	212						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TCCAATGGAGACTGTCGAAGG	0.443																																						ENST00000338687.7																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(499-501)Tct>Cct		tRNA methyltransferase 2 homolog B (S. cerevisiae)							109	87	94					X																	100278581		2203	4300	6503	SO:0001583	missense	79979						tRNA (uracil-5-)-methyltransferase activity	g.chrX:100278581A>G	BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"chromosome X open reading frame 34"	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.634T>C	X.37:g.100278581A>G	ENSP00000362027:p.Ser212Pro		Somatic				TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372939.1_Missense_Mutation_p.S167P|TRMT2B_ENST00000372935.1_Missense_Mutation_p.S212P|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S212P|TRMT2B_ENST00000372936.3_Missense_Mutation_p.S212P|TRMT2B_ENST00000545398.1_Missense_Mutation_p.S212P	p.S167P			WXS	Illumina GAIIx	Phase_I	Q96GJ1	TRM2_HUMAN			7	1304	-			212					A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	ENST00000372936.3	37	c.499T>C	CCDS14477.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707207	0.68615	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T;T;T	0.52983	0.73;0.64;0.73;0.64;0.64;0.64	4.69	1.99	0.26369	.	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	M	0.84219	2.685	0.53688	D	0.999973	D;P;D	0.89917	1.0;0.949;0.997	D;P;D	0.76575	0.988;0.596;0.947	T	0.62431	-0.6856	10	0.39692	T	0.17	-0.9453	7.9855	0.30210	0.6766:0.0:0.0:0.3234	.	167;212;212	Q96GJ1-3;F2Z384;Q96GJ1	.;.;TRM2_HUMAN	P	167;212;167;212;212;212	ENSP00000340970:S167P;ENSP00000438134:S212P;ENSP00000362030:S167P;ENSP00000362026:S212P;ENSP00000362027:S212P;ENSP00000362022:S212P	ENSP00000340970:S167P	S	-	1	0	TRMT2B	100165237	1.000000	0.71417	0.328000	0.25416	0.989000	0.77384	5.438000	0.66550	0.566000	0.29273	0.381000	0.24937	TCT		0.443	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		32	26	0	0	0	1	0	32	26					G	100278581	A	G	100278581	3	3	1	1	0	0	0	0	1	0	0	0	16581	275	10	4	908	4	TRMT2B	23	100278581	Missense_Mutation	SNP	A	TCGA-N5-A4R8-01A-11D-A28R-08	30130196	100278581	54991979	62	62										
NRK	203447	broad.mit.edu	37	chrX	105153215	105153215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0634920634920635	4	1	0.838836220987251	0.88543823326432	0.824373527521953	0.523809523809524	1	0	agggtcaagatcaggtacccGaacaacaaaggcagggccag	13	10	2	1	rs202127779		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:105153215G>A	ENST00000243300.9	+	13	1885	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	NRK_ENST00000428173.2_Missense_Mutation_p.E529K	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	528	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TCAGGTACCCGAACAACAAAG	0.552										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(1585-1587)Gaa>Aaa		Nik related kinase							37	38	38					X																	105153215		1974	4144	6118	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105153215G>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1582G>A	X.37:g.105153215G>A	ENSP00000434830:p.Glu528Lys	HNSCC(51;0.14)	Somatic				NRK_ENST00000243300.9_Missense_Mutation_p.E528K	p.E529K			WXS	Illumina GAIIx	Phase_I	Q7Z2Y5	NRK_HUMAN			13	1888	+			528			Gln-rich.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.1585G>A		.	.	.	.	.	.	.	.	.	.	G	11.60	1.685908	0.29962	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.28255	1.62;1.62	4.49	3.63	0.41609	.	0.251867	0.28527	N	0.015034	T	0.32763	0.0840	M	0.64404	1.975	0.58432	D	0.999999	D;P	0.60160	0.987;0.897	P;B	0.47206	0.541;0.122	T	0.07290	-1.0780	10	0.38643	T	0.18	.	7.4831	0.27417	0.1163:0.0:0.8837:0.0	.	196;528	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	K	528;529	ENSP00000434830:E528K;ENSP00000438378:E529K	ENSP00000434830:E528K	E	+	1	0	NRK	105039871	0.986000	0.35501	0.219000	0.23793	0.102000	0.19082	2.406000	0.44557	1.248000	0.43934	0.600000	0.82982	GAA		0.552	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		26	22	0	0	0	1	0	26	22					A	105153215	G	A	105153215	3	1	1	1	0	0	0	0	1	0	0	0	10664	1059	37	1	1632	1	NRK	23	105153215	Missense_Mutation	SNP	G	TCGA-N5-A4R8-01A-11D-A28R-08	4874634	105153215	50117345	63	63										
CDK11B	8510	broad.mit.edu	37	chr1	1572453	1572453	+	IGR	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	gggggctcaccttgaggatgCcggcgtggctcagcagcagg	18	11	2	1			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:1572453C>T	ENST00000356026.5	+	0	1326				CDK11B_ENST00000341832.6_Missense_Mutation_p.G517D|CDK11B_ENST00000340677.5_Missense_Mutation_p.G551D|CDK11B_ENST00000407249.3_Missense_Mutation_p.G564D|CDK11B_ENST00000317673.7_Missense_Mutation_p.G562D			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)	CTTGAGGATGCCGGCGTGGCT	0.647																																						ENST00000407249.3																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						c.(1690-1692)gGc>gAc		cyclin-dependent kinase 11B							70	86	81					1																	1572453		2096	4229	6325	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.chr1:1572453C>T		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.1572453C>T			Somatic				CDK11B_ENST00000340677.5_Missense_Mutation_p.G551D|CDK11B_ENST00000341832.6_Missense_Mutation_p.G517D|CDK11B_ENST00000317673.7_Missense_Mutation_p.G562D	p.G564D			WXS	Illumina GAIIx	Phase_I	P21127	CD11B_HUMAN			16	1690	-			574			Protein kinase.		A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Missense_Mutation	SNP	ENST00000356026.5	37	c.1691G>A	CCDS30559.1																																																																																				0.647	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158492.2	NM_006983		4	152	0	0	0	1	0	4	152					T	1572453	C	T	1572453	1	4	2	0	1	0	0	0	0	0	0	0	3129	739	26	3		3	CDK11B	1	1572453	IGR	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08		1572453	247678168	1	64										
HSPB7	27129	broad.mit.edu	37	chr1	16342195	16342195	+	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	gtcaccgacgtcgggtccacGtcctccggcagctggcactt	12	16	1	0			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:16342195G>A	ENST00000311890.9	-	3	1219	c.393C>T	c.(391-393)gaC>gaT	p.D131D	HSPB7_ENST00000375718.4_Silent_p.D206D|HSPB7_ENST00000487046.1_Silent_p.D136D|HSPB7_ENST00000406363.2_Silent_p.D135D|HSPB7_ENST00000411503.1_Silent_p.D126D	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	131					regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		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;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGGTCCACGTCCTCCGGCA	0.677																																						ENST00000311890.9																			0				breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10						c.(391-393)gaC>gaT		heat shock 27kDa protein family, member 7 (cardiovascular)							76	69	72					1																	16342195		2203	4299	6502	SO:0001819	synonymous_variant	27129				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding	g.chr1:16342195G>A	AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"Heat shock proteins / HSPB"	5249	protein-coding gene	gene with protein product		610692	"heat shock 27kD protein family, member 7 (cardiovascular)"			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.393C>T	1.37:g.16342195G>A			Somatic				HSPB7_ENST00000411503.1_Silent_p.D126D|HSPB7_ENST00000406363.2_Silent_p.D135D|HSPB7_ENST00000375718.4_Silent_p.D206D|HSPB7_ENST00000487046.1_Silent_p.D136D	p.D131D	NM_014424.4	NP_055239.1	WXS	Illumina GAIIx	Phase_I	Q9UBY9	HSPB7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	3	1219	-		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)	131					B3KQ37|C9K0Y0|Q9NU17	Silent	SNP	ENST00000311890.9	37	c.393C>T	CCDS30611.1																																																																																				0.677	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026334.2	NM_014424		72	48	0	0	0	1	0	72	48					A	16342195	G	A	16342195	2	1	2	1	0	0	0	0	0	0	0	1	7431	1136	40	1		1	HSPB7	1	16342195	Silent	SNP	G	TCGA-N5-A4RA-01A-11D-A28R-08	14769742	16342195	232908426	2	65										
ZBTB7B	51043	broad.mit.edu	37	chr1	154987765	154987765	+	Frame_Shift_Del	DEL	A	A	-													0	0	1	0	0	0	1	1	0	gccccggaaagctttcctgcAaaccaagggggccagagcaa							TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:154987765delA	ENST00000368426.3	+	3	766	c.629delA	c.(628-630)caafs	p.Q210fs	ZBTB7B_ENST00000292176.2_Frame_Shift_Del_p.Q210fs|ZBTB7B_ENST00000417934.2_Frame_Shift_Del_p.Q244fs|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Frame_Shift_Del_p.Q210fs	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	210					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)			GCTTTCCTGCAAACCAAGGGG	0.672																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(628-630)cafs		zinc finger and BTB domain containing 7B							35	40	39					1																	154987765		2201	4297	6498	SO:0001589	frameshift_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.chr1:154987765delA	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.629delA	1.37:g.154987765delA	ENSP00000357411:p.Gln210fs		Somatic				ZBTB7B_ENST00000292176.2_Frame_Shift_Del_p.Q210fs|ZBTB7B_ENST00000535420.1_Frame_Shift_Del_p.Q210fs|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000417934.2_Frame_Shift_Del_p.Q244fs	p.Q210fs	NM_001256455.1	NP_001243384.1	WXS	Illumina GAIIx	Phase_I	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	766	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		210					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Frame_Shift_Del	DEL	ENST00000368426.3	37	c.629delA	CCDS1081.1																																																																																				0.672	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		114	228						114	228	---	---	---	---	-	154987765	A	-	154987765	7	5	2	1	0	1	0	1	0	0	0	0	17569	130	5	0	631	0	ZBTB7B	1	154987765	Frame_Shift_Del	DEL	A	TCGA-N5-A4RA-01A-11D-A28R-08	138645570	154987765	94262856	3	66										
LAMC1	3915	broad.mit.edu	37	chr1	182993005	182993018	+	Frame_Shift_Del	DEL	CCCGAGTTCGTCAA	CCCGAGTTCGTCAA	-													0	0	1	0	0	0	1	1	0	ggcggccgcagcgctgcatgCccgagttcgtcaacgccgcc					rs368501531		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:182993005_182993018delCCCGAGTTCGTCAA	ENST00000258341.4	+	1	411_424	c.154_167delCCCGAGTTCGTCAA	c.(154-168)cccgagttcgtcaacfs	p.PEFVN52fs		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	52	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						GCGCTGCATGCCCGAGTTCGTCAACGCCGCCTTC	0.71																																						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.(154-168)cfs		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	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.chr1:182993005_182993018delCCCGAGTTCGTCAA	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.154_167delCCCGAGTTCGTCAA	1.37:g.182993005_182993018delCCCGAGTTCGTCAA	ENSP00000258341:p.Pro52fs		Somatic					p.PEFVN52fs	NM_002293.3	NP_002284.3	WXS	Illumina GAIIx	Phase_I	P11047	LAMC1_HUMAN			1	411_424	+			52			Laminin N-terminal.		Q5VYE7	Frame_Shift_Del	DEL	ENST00000258341.4	37	c.154_167delCCCGAGTTCGTCAA	CCDS1351.1																																																																																				0.71	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		8	55						8	55	---	---	---	---	-	182993018	CCCGAGTTCGTCAA	-	182993005	7	5	2	1	0	1	0	1	0	0	0	0	8623	739	26	0	156	0	LAMC1	1	182993005	Frame_Shift_Del	DEL	CCCGAGTTCGTCAA	TCGA-N5-A4RA-01A-11D-A28R-08	28005240	182993005	66257616	4	67										
USH2A	7399	broad.mit.edu	37	chr1	216595499	216595499	+	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	caaaaagtgcttcggtctggGagtccacatactgcttgggt	12	9	1	0			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:216595499G>A	ENST00000307340.3	-	2	566	c.180C>T	c.(178-180)ctC>ctT	p.L60L	USH2A_ENST00000366942.3_Silent_p.L60L|USH2A_ENST00000366943.2_Silent_p.L60L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	60					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)		TTCGGTCTGGGAGTCCACATA	0.483										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.(178-180)ctC>ctT		Usher syndrome 2A (autosomal recessive, mild)							96	96	96					1																	216595499		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216595499G>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.180C>T	1.37:g.216595499G>A		HNSCC(13;0.011)	Somatic				USH2A_ENST00000307340.3_Silent_p.L60L|USH2A_ENST00000366942.3_Silent_p.L60L	p.L60L			WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	2	566	-			60					Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.180C>T	CCDS31025.1																																																																																				0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		37	28	0	0	0	1	0	37	28					A	216595499	G	A	216595499	2	1	2	1	0	0	0	0	0	0	0	1	17051	1161	41	3		3	USH2A	1	216595499	Silent	SNP	G	TCGA-N5-A4RA-01A-11D-A28R-08	33602494	216595499	32655122	5	68										
ITSN2	50618	broad.mit.edu	37	chr2	24438918	24438918	+	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	aaggcccagaatggaattacCtttaaaaattctttgaaatc	6	7	1	2			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:24438918C>T	ENST00000355123.4	-	32	4433	c.3990G>A	c.(3988-3990)aaG>aaA	p.K1330K	AC009228.1_ENST00000413254.1_RNA|AC009228.1_ENST00000430105.1_RNA|ITSN2_ENST00000361999.3_Splice_Site_p.K1303K|AC009228.1_ENST00000413989.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1330	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)					ATGGAATTACCTTTAAAAATT	0.498																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.e32+1		intersectin 2							61	63	63					2																	24438918		2203	4300	6503	SO:0001630	splice_region_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24438918C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3990+1G>A	2.37:g.24438918C>T			Somatic				ITSN2_ENST00000361999.3_Splice_Site_p.K1303_splice|AC009228.1_ENST00000413254.1_RNA|AC009228.1_ENST00000413989.1_RNA|AC009228.1_ENST00000430105.1_RNA	p.K1330_splice	NM_006277.2	NP_006268.2	WXS	Illumina GAIIx	Phase_I	Q9NZM3	ITSN2_HUMAN			32	4433	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1330			DH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Splice_Site	SNP	ENST00000355123.4	37	c.3990_splice	CCDS1710.2																																																																																				0.498	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	Silent	35	26	0	0	0	1	0	35	26					T	24438918	C	T	24438918	5	4	2	1	0	0	0	0	0	0	1	0	7936	695	24	3	1139	3	ITSN2	2	24438918	Splice_Site	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08		24438918	218760455	6	69										
SMYD1	150572	broad.mit.edu	37	chr2	88390583	88390583	+	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	gagaggcctgcaggccgtggGcgtaggcatcttccccaacc	14	14	1	1			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:88390583G>A	ENST00000419482.2	+	4	666	c.581G>A	c.(580-582)gGc>gAc	p.G194D	SMYD1_ENST00000444564.2_Missense_Mutation_p.G194D|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	194	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAGGCCGTGGGCGTAGGCATC	0.498																																						ENST00000419482.2																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(580-582)gGc>gAc		SET and MYND domain containing 1							184	177	179					2																	88390583		2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88390583G>A	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.581G>A	2.37:g.88390583G>A	ENSP00000393453:p.Gly194Asp		Somatic				SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.G194D	p.G194D	NM_198274.3	NP_938015.1	WXS	Illumina GAIIx	Phase_I	Q8NB12	SMYD1_HUMAN			4	666	+			194			SET.		A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.581G>A	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	G	33	5.207303	0.95033	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	D;D	0.81908	-1.55;-1.55	5.31	5.31	0.75309	SET domain (2);	0.000000	0.85682	D	0.000000	D	0.89532	0.6742	L	0.56124	1.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90234	0.4281	10	0.87932	D	0	-13.5057	18.3263	0.90255	0.0:0.0:1.0:0.0	.	194	Q8NB12	SMYD1_HUMAN	D	194;194;28	ENSP00000393453:G194D;ENSP00000407888:G194D	ENSP00000295833:G28D	G	+	2	0	SMYD1	88171698	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	9.345000	0.97053	2.635000	0.89317	0.561000	0.74099	GGC		0.498	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		65	176	0	0	0	1	0	65	176					A	88390583	G	A	88390583	3	1	2	1	0	0	0	0	1	0	0	0	14836	1203	42	3	595	3	SMYD1	2	88390583	Missense_Mutation	SNP	G	TCGA-N5-A4RA-01A-11D-A28R-08	63951665	88390583	154808790	7	70										
SCN1A	6323	broad.mit.edu	37	chr2	166908389	166908389	+	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	ttcctcaggttgcccatgaaCagctgcagcccaattagagc	9	13	1	2			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:166908389C>T	ENST00000303395.4	-	6	803	c.804G>A	c.(802-804)ctG>ctA	p.L268L	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Silent_p.L268L|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.L268L|SCN1A_ENST00000423058.2_Silent_p.L268L			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	268					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)	TGCCCATGAACAGCTGCAGCC	0.433																																						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.(802-804)ctG>ctA		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						98	98	98					2																	166908389		2203	4299	6502	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166908389C>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.804G>A	2.37:g.166908389C>T			Somatic				AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.L268L|SCN1A_ENST00000303395.4_Silent_p.L268L|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.L268L	p.L268L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			6	821	-			268					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.804G>A	CCDS54413.1																																																																																				0.433	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		25	79	0	0	0	1	0	25	79					T	166908389	C	T	166908389	2	4	2	1	0	0	0	0	0	0	0	1	13929	465	17	3		3	SCN1A	2	166908389	Silent	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08	78517806	166908389	76290984	8	71										
ZAK	51776	broad.mit.edu	37	chr2	174081932	174081932	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gcttaaagaacgagaaagacGtttaaagatgtgggagcaaa	12	4	0	4			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:174081932G>T	ENST00000375213.3	+	11	1019	c.941G>T	c.(940-942)cGt>cTt	p.R314L	MLTK_ENST00000338983.3_Missense_Mutation_p.R314L|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.R314L|MLTK_ENST00000431503.2_Missense_Mutation_p.R213L|MLTK_ENST00000539448.1_Missense_Mutation_p.R314L	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		314					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CGAGAAAGACGTTTAAAGATG	0.532																																						ENST00000338983.3																			0											c.(940-942)cGt>cTt									79	73	75					2																	174081932		2203	4300	6503	SO:0001583	missense	0							g.chr2:174081932G>T																												ENST00000375213.3:c.941G>T	2.37:g.174081932G>T	ENSP00000364361:p.Arg314Leu		Somatic				MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000539448.1_Missense_Mutation_p.R314L|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000431503.2_Missense_Mutation_p.R213L|MLTK_ENST00000375213.3_Missense_Mutation_p.R314L|MLTK_ENST00000409176.2_Missense_Mutation_p.R314L	p.R314L	NM_133646.2	NP_598407.1	WXS	Illumina GAIIx	Phase_I					11	1136	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	c.941G>T	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362911	0.61403	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000431503;ENST00000375213	T;T;T;D;T	0.82433	-0.87;-0.96;-0.87;-1.61;-0.96	5.59	5.59	0.84812	.	0.047492	0.85682	D	0.000000	T	0.76828	0.4042	L	0.27053	0.805	0.80722	D	1	D;D;P;D	0.57257	0.965;0.979;0.906;0.965	B;P;B;B	0.48166	0.366;0.569;0.412;0.366	T	0.73585	-0.3936	10	0.21540	T	0.41	.	12.8651	0.57936	0.0745:0.0:0.9254:0.0	.	314;314;314;314	A8K710;Q9NYL2-2;Q9NYL2;D4Q8H0	.;.;MLTK_HUMAN;.	L	314;314;314;213;314	ENSP00000439414:R314L;ENSP00000387259:R314L;ENSP00000340257:R314L;ENSP00000399787:R213L;ENSP00000364361:R314L	ENSP00000340257:R314L	R	+	2	0	AC013461.1	173790178	1.000000	0.71417	0.950000	0.38849	0.995000	0.86356	6.814000	0.75236	2.632000	0.89209	0.655000	0.94253	CGT		0.532	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			15	97	1	0	2.31682e-05	1	2.47551e-05	15	97					T	174081932	G	T	174081932	3	4	2	1	0	0	0	0	1	0	0	0	17527	1145	40	5	979	5	ZAK	2	174081932	Missense_Mutation	SNP	G	TCGA-N5-A4RA-01A-11D-A28R-08	7173543	174081932	69117441	9	72										
HOXD12	3238	broad.mit.edu	37	chr2	176964703	176964703	+	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	gccgccacgcccgcctcctgCgcccccgcgcagcctgcggg	13	23	0	0			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:176964703C>T	ENST00000406506.2	+	1	246	c.174C>T	c.(172-174)tgC>tgT	p.C58C	HOXD12_ENST00000404162.2_Silent_p.C58C			P35452	HXD12_HUMAN	homeobox D12	58					embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCGCCTCCTGCGCCCCCGCGC	0.741																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(172-174)tgC>tgT		homeobox D12							8	10	9					2																	176964703		1578	3605	5183	SO:0001819	synonymous_variant	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964703C>T		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"Homeoboxes / ANTP class : HOXL subclass"	5135	protein-coding gene	gene with protein product		142988	"homeo box D12"	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.174C>T	2.37:g.176964703C>T			Somatic				HOXD12_ENST00000404162.2_Silent_p.C58C	p.C58C			WXS	Illumina GAIIx	Phase_I	P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	246	+			58					B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Silent	SNP	ENST00000406506.2	37	c.174C>T	CCDS46456.1																																																																																				0.741	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		7	30	0	0	0	1	0	7	30					T	176964703	C	T	176964703	2	4	2	1	0	0	0	0	0	0	0	1	7330	776	27	1		1	HOXD12	2	176964703	Silent	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08	2882771	176964703	66234670	10	73										
TSEN2	80746	broad.mit.edu	37	chr3	12531391	12531391	+	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	aatcccttttggtcaggaccAtggtcctctgaaagaattca	8	10	3	2	rs568361511		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:12531391A>G	ENST00000284995.6	+	2	479	c.92A>G	c.(91-93)cAt>cGt	p.H31R	TSEN2_ENST00000314571.7_Missense_Mutation_p.H31R|TSEN2_ENST00000415684.1_Missense_Mutation_p.H31R|TSEN2_ENST00000383797.5_Missense_Mutation_p.H31R|TSEN2_ENST00000402228.3_Missense_Mutation_p.H31R|TSEN2_ENST00000454502.2_Missense_Mutation_p.H31R|TSEN2_ENST00000444864.1_Missense_Mutation_p.H31R	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	31					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GGTCAGGACCATGGTCCTCTG	0.433																																						ENST00000444864.1																			0				central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						c.(91-93)cAt>cGt		TSEN2 tRNA splicing endonuclease subunit							109	102	104					3																	12531391		2203	4300	6503	SO:0001583	missense	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12531391A>G	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"tRNA splicing endonuclease subunits"	28422	protein-coding gene	gene with protein product		608753	"tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)", "tRNA splicing endonuclease 2 homolog (S. cerevisiae)"			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.92A>G	3.37:g.12531391A>G	ENSP00000284995:p.His31Arg		Somatic				TSEN2_ENST00000454502.2_Missense_Mutation_p.H31R|TSEN2_ENST00000415684.1_Missense_Mutation_p.H31R|TSEN2_ENST00000383797.5_Missense_Mutation_p.H31R|TSEN2_ENST00000314571.7_Missense_Mutation_p.H31R|TSEN2_ENST00000284995.6_Missense_Mutation_p.H31R|TSEN2_ENST00000402228.3_Missense_Mutation_p.H31R	p.H31R	NM_001145395.1	NP_001138867.1	WXS	Illumina GAIIx	Phase_I	Q8NCE0	SEN2_HUMAN			2	479	+			31					B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	ENST00000284995.6	37	c.92A>G	CCDS2611.1	.	.	.	.	.	.	.	.	.	.	.	0.884	-0.727707	0.03158	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T;T	0.53423	0.63;0.63;0.64;0.63;0.63;0.63;0.62;0.63	5.28	-10.6	0.00265	.	2.852700	0.00896	N	0.002284	T	0.16938	0.0407	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.002;0.001	T	0.11131	-1.0600	10	0.15066	T	0.55	4.1247	3.7605	0.08602	0.1929:0.1716:0.4499:0.1856	.	31;31;31;31	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	R	31	ENSP00000406238:H31R;ENSP00000323188:H31R;ENSP00000392029:H31R;ENSP00000373307:H31R;ENSP00000385976:H31R;ENSP00000284995:H31R;ENSP00000407974:H31R;ENSP00000416510:H31R	ENSP00000284995:H31R	H	+	2	0	TSEN2	12506391	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.175000	0.03102	-2.150000	0.00796	-0.899000	0.02877	CAT		0.433	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		30	67	0	0	0	1	0	30	67					G	12531391	A	G	12531391	3	3	2	1	0	0	0	0	1	0	0	0	16627	217	8	4	94	4	TSEN2	3	12531391	Missense_Mutation	SNP	A	TCGA-N5-A4RA-01A-11D-A28R-08		12531391	185491039	11	74										
CD86	942	broad.mit.edu	37	chr3	121825307	121825307	+	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	accatcttctgtattctggaAactgacaagacgcggctttt	8	10	3	2			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:121825307A>C	ENST00000330540.2	+	4	779	c.663A>C	c.(661-663)gaA>gaC	p.E221D	CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.E215D|CD86_ENST00000493101.1_Missense_Mutation_p.E109D|CD86_ENST00000469710.1_Missense_Mutation_p.E139D	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	221	Ig-like C2-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	GTATTCTGGAAACTGACAAGA	0.388																																					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.(661-663)gaA>gaC		CD86 molecule	Abatacept(DB01281)						193	180	184					3																	121825307		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121825307A>C		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.663A>C	3.37:g.121825307A>C	ENSP00000332049:p.Glu221Asp		Somatic				CD86_ENST00000393627.2_Missense_Mutation_p.E215D|CD86_ENST00000493101.1_Missense_Mutation_p.E109D|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.E139D	p.E221D	NM_175862.4	NP_787058.4	WXS	Illumina GAIIx	Phase_I	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	4	779	+			221			Ig-like C2-type.		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.663A>C	CCDS3009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.78|13.78	2.338041|2.338041	0.41398|0.41398	.|.	.|.	ENSG00000114013|ENSG00000114013	ENST00000469710;ENST00000493101;ENST00000330540;ENST00000393627|ENST00000478741	T;T;T;T|.	0.15834|.	2.68;2.39;2.68;2.68|.	5.09|5.09	-3.09|-3.09	0.05331|0.05331	.|.	1.633870|.	0.03229|.	N|.	0.178639|.	T|T	0.26738|0.26738	0.0654|0.0654	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	0.999999|0.999999	B;P|.	0.36086|.	0.187;0.536|.	B;B|.	0.40256|.	0.08;0.324|.	T|T	0.33033|0.33033	-0.9884|-0.9884	10|5	0.72032|.	D|.	0.01|.	2.5669|2.5669	6.3984|6.3984	0.21624|0.21624	0.4303:0.1474:0.4223:0.0|0.4303:0.1474:0.4223:0.0	.|.	109;221|.	E9PC27;P42081|.	.;CD86_HUMAN|.	D|H	139;109;221;215|217	ENSP00000418988:E139D;ENSP00000420230:E109D;ENSP00000332049:E221D;ENSP00000377248:E215D|.	ENSP00000332049:E221D|.	E|N	+|+	3|1	2|0	CD86|CD86	123307997|123307997	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.031000|0.031000	0.12232|0.12232	0.041000|0.041000	0.13927|0.13927	-0.394000|-0.394000	0.07727|0.07727	0.533000|0.533000	0.62120|0.62120	GAA|AAC		0.388	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		47	153	0	0	0	1	0	47	153					C	121825307	A	C	121825307	3	2	2	1	0	0	0	0	1	0	0	0	3045	11	1	4	677	4	CD86	3	121825307	Missense_Mutation	SNP	A	TCGA-N5-A4RA-01A-11D-A28R-08	109293916	121825307	76197123	12	75										
KALRN	8997	broad.mit.edu	37	chr3	124418865	124418865	+	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	gcgagccctcggagtttgtgCgacttccagaatatggtgag	14	9	0	2			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:124418865C>T	ENST00000291478.5	+	23	3053	c.2890C>T	c.(2890-2892)Cga>Tga	p.R964*	AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000360013.3_Nonsense_Mutation_p.R2661*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					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						GGAGTTTGTGCGACTTCCAGA	0.597																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(7981-7983)Cga>Tga		kalirin, RhoGEF kinase							132	121	125					3																	124418865		2203	4300	6503	SO:0001587	stop_gained	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.chr3:124418865C>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.2890C>T	3.37:g.124418865C>T	ENSP00000291478:p.Arg964*		Somatic				KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*	p.R2661*	NM_001024660.3	NP_001019831.2	WXS	Illumina GAIIx	Phase_I	O60229	KALRN_HUMAN			56	8108	+			2660					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000291478.5	37	c.7981C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	42	9.571042	0.99208	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	.	.	.	6.17	3.15	0.36227	.	0.209202	0.31347	N	0.007809	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.1047	0.65080	0.6612:0.3388:0.0:0.0	.	.	.	.	X	2661;964;932	.	ENSP00000291478:R964X	R	+	1	2	KALRN	125901555	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.467000	0.35321	0.920000	0.36970	-0.152000	0.13540	CGA		0.597	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		4	211	0	0	0	1	0	4	211					T	124418865	C	T	124418865	4	4	2	1	0	0	0	0	0	1	0	0	7984	760	27	1	8359	1	KALRN	3	124418865	Nonsense_Mutation	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08	2593558	124418865	73603565	13	76										
PODXL2	50512	broad.mit.edu	37	chr3	127358250	127358250	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	agctgggctgggagcccctgGctcaggcttccccagcgaag	15	14	1	0			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:127358250G>T	ENST00000342480.6	+	2	272	c.233G>T	c.(232-234)gGc>gTc	p.G78V		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	78					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GGAGCCCCTGGCTCAGGCTTC	0.597																																						ENST00000342480.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						c.(232-234)gGc>gTc		podocalyxin-like 2							37	43	41					3																	127358250		2203	4300	6503	SO:0001583	missense	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127358250G>T	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"endoglycan"					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.233G>T	3.37:g.127358250G>T	ENSP00000345359:p.Gly78Val		Somatic					p.G78V	NM_015720.2	NP_056535.1	WXS	Illumina GAIIx	Phase_I	Q9NZ53	PDXL2_HUMAN			2	272	+			78					Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	c.233G>T	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601709	0.87055	.	.	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.38560	1.13	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000005	T	0.57740	0.2074	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58470	-0.7631	10	0.87932	D	0	-32.3928	20.2508	0.98407	0.0:0.0:1.0:0.0	.	78	Q9NZ53	PDXL2_HUMAN	V	78	ENSP00000345359:G78V	ENSP00000304498:G78V	G	+	2	0	PODXL2	128840940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.408000	0.73285	2.788000	0.95919	0.585000	0.79938	GGC		0.597	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		30	46	1	0	5.45727e-16	1	6.4495e-16	30	46					T	127358250	G	T	127358250	3	4	2	1	0	0	0	0	1	0	0	0	12190	1203	42	5	239	5	PODXL2	3	127358250	Missense_Mutation	SNP	G	TCGA-N5-A4RA-01A-11D-A28R-08	2939385	127358250	70664180	14	77										
CLCN2	1181	broad.mit.edu	37	chr3	184073266	184073266	+	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	ctcctccaccaggccctggcGgacccacgtccgattgtcaa	9	18	1	0			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:184073266G>A	ENST00000265593.4	-	12	1393	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.R364C|CLCN2_ENST00000475279.1_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.R408C|CLCN2_ENST00000423355.2_Missense_Mutation_p.R49C|CLCN2_ENST00000457512.1_Missense_Mutation_p.R408C	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	408					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGGCCCTGGCGGACCCACGTC	0.582																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1222-1224)Cgc>Tgc		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						126	114	118					3																	184073266		2203	4300	6503	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184073266G>A	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1222C>T	3.37:g.184073266G>A	ENSP00000265593:p.Arg408Cys		Somatic				EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Missense_Mutation_p.R408C|CLCN2_ENST00000423355.2_Missense_Mutation_p.R49C|CLCN2_ENST00000475279.1_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.R408C|CLCN2_ENST00000434054.2_Missense_Mutation_p.R364C	p.R408C	NM_004366.5	NP_004357.3	WXS	Illumina GAIIx	Phase_I	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		12	1393	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		408					B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.1222C>T	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	g	21.7	4.190250	0.78789	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000423355;ENST00000434054;ENST00000457512	D;D;T;D;D	0.85171	-1.9;-1.85;-0.39;-1.95;-1.94	5.6	5.6	0.85130	Chloride channel, core (2);	0.322809	0.33732	N	0.004606	D	0.88804	0.6536	L	0.54323	1.7	0.45490	D	0.998458	D;D;D;D;D	0.69078	0.996;0.997;0.994;0.992;0.997	P;P;P;P;P	0.59761	0.773;0.863;0.713;0.59;0.79	D	0.89519	0.3777	10	0.87932	D	0	-8.8308	14.1012	0.65056	0.0:0.0:0.8109:0.1891	.	408;364;408;408;408	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	C	408;408;49;364;408	ENSP00000265593:R408C;ENSP00000345056:R408C;ENSP00000412226:R49C;ENSP00000400425:R364C;ENSP00000391928:R408C	ENSP00000265593:R408C	R	-	1	0	CLCN2	185555960	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	3.978000	0.56881	2.653000	0.90120	0.563000	0.77884	CGC		0.582	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			59	83	0	0	0	1	0	59	83					A	184073266	G	A	184073266	3	1	2	1	0	0	0	0	1	0	0	0	3465	1116	39	1	1526	1	CLCN2	3	184073266	Missense_Mutation	SNP	G	TCGA-N5-A4RA-01A-11D-A28R-08	56715016	184073266	13949164	15	78										
FBXW7	55294	broad.mit.edu	37	chr4	153250873	153250873	+	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	aagtgttgtcatcagaaccaCtaactattcggttaccacaa	6	10	2	1			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr4:153250873C>T	ENST00000281708.4	-	8	2416	c.1187G>A	c.(1186-1188)aGt>aAt	p.S396N	FBXW7_ENST00000393956.3_Missense_Mutation_p.S220N|FBXW7_ENST00000603841.1_Missense_Mutation_p.S396N|FBXW7_ENST00000263981.5_Missense_Mutation_p.S316N|FBXW7_ENST00000603548.1_Missense_Mutation_p.S396N|FBXW7_ENST00000296555.5_Missense_Mutation_p.S278N	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	396					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATCAGAACCACTAACTATTCG	0.348			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1186-1188)aGt>aAt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							118	107	111					4																	153250873		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153250873C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1187G>A	4.37:g.153250873C>T	ENSP00000281708:p.Ser396Asn		Somatic				FBXW7_ENST00000263981.5_Missense_Mutation_p.S316N|FBXW7_ENST00000603548.1_Missense_Mutation_p.S396N|FBXW7_ENST00000296555.5_Missense_Mutation_p.S278N|FBXW7_ENST00000603841.1_Missense_Mutation_p.S396N|FBXW7_ENST00000393956.3_Missense_Mutation_p.S220N	p.S396N	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			8	2416	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	396					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1187G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915859	0.92178	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	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	0.89529	0.6741	H	0.95260	3.645	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.71414	0.963;0.973;0.954;0.954	D	0.91405	0.5146	10	0.72032	D	0.01	-18.9533	20.5373	0.99239	0.0:1.0:0.0:0.0	.	220;396;278;316	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	N	396;278;316;220	ENSP00000281708:S396N;ENSP00000296555:S278N;ENSP00000263981:S316N;ENSP00000377528:S220N	ENSP00000263981:S316N	S	-	2	0	FBXW7	153470323	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.815000	0.86186	2.857000	0.98124	0.650000	0.86243	AGT		0.348	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			44	7	0	0	0	1	0	44	7					T	153250873	C	T	153250873	3	4	2	1	0	0	0	0	1	0	0	0	5777	565	20	3	956	3	FBXW7	4	153250873	Missense_Mutation	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08		153250873	37903403	16	79										
SKIV2L2	23517	broad.mit.edu	37	chr5	54619970	54619970	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctttttaagtttggcagacCtgatgcccagagtcaaggta	10	8	2	3			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr5:54619970C>A	ENST00000230640.5	+	3	537	c.283C>A	c.(283-285)Ctg>Atg	p.L95M	SKIV2L2_ENST00000504388.1_3'UTR|SKIV2L2_ENST00000545714.1_Intron	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	95					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTTGGCAGACCTGATGCCCAG	0.348																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			0				NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(283-285)Ctg>Atg		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							85	74	77					5																	54619970		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.chr5:54619970C>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.283C>A	5.37:g.54619970C>A	ENSP00000230640:p.Leu95Met		Somatic				SKIV2L2_ENST00000504388.1_3'UTR|SKIV2L2_ENST00000545714.1_Intron	p.L95M	NM_015360.4	NP_056175.3	WXS	Illumina GAIIx	Phase_I	P42285	SK2L2_HUMAN			3	537	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	95					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.283C>A	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334145	0.41297	.	.	ENSG00000039123	ENST00000230640	T	0.32753	1.44	5.55	1.46	0.22682	.	0.381316	0.27076	N	0.021045	T	0.24928	0.0605	L	0.50333	1.59	0.80722	D	1	B	0.26845	0.161	B	0.23018	0.043	T	0.05321	-1.0892	10	0.46703	T	0.11	-27.398	9.1943	0.37217	0.0:0.6743:0.0:0.3257	.	95	P42285	SK2L2_HUMAN	M	95	ENSP00000230640:L95M	ENSP00000230640:L95M	L	+	1	2	SKIV2L2	54655727	0.869000	0.29996	0.998000	0.56505	0.944000	0.59088	0.587000	0.23909	0.206000	0.20587	0.655000	0.94253	CTG		0.348	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			6	18	1	0	3.59834e-05	1	3.79284e-05	6	18					A	54619970	C	A	54619970	3	1	2	1	0	0	0	0	1	0	0	0	14375	680	24	5	293	5	SKIV2L2	5	54619970	Missense_Mutation	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08		54619970	126295290	17	80										
ACOT12	134526	broad.mit.edu	37	chr5	80626633	80626633	+	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	agatgtttcatcaaacttacGatgcatgaattgctgtcaat	7	7	3	2			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr5:80626633G>T	ENST00000307624.3	-	14	1546	c.1518C>A	c.(1516-1518)atC>atA	p.I506I	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	506	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TCAAACTTACGATGCATGAAT	0.398																																						ENST00000307624.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.e14+1		acyl-CoA thioesterase 12							81	76	77					5																	80626633		2203	4300	6503	SO:0001630	splice_region_variant	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80626633G>T	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1518+1C>A	5.37:g.80626633G>T			Somatic				ACOT12_ENST00000508234.1_5'UTR	p.I506_splice	NM_130767.2	NP_570123.1	WXS	Illumina GAIIx	Phase_I	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	14	1546	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	506			START.		B3KVK9|Q5FWE9	Splice_Site	SNP	ENST00000307624.3	37	c.1518_splice	CCDS4055.1																																																																																				0.398	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767	Silent	16	25	1	0	2.32078e-09	1	2.66208e-09	16	25					T	80626633	G	T	80626633	5	4	2	1	0	0	0	0	0	0	1	0	150	1072	37	2	157	2	ACOT12	5	80626633	Splice_Site	SNP	G	TCGA-N5-A4RA-01A-11D-A28R-08	26006663	80626633	100288627	18	81										
RUNX2	860	broad.mit.edu	37	chr6	45390482	45390482	+	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	agcaacagcagcagcagcagCaggaggcggcggcggcggct	18	12	0	0			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(211-213)Cag>Gag		runt-related transcription factor 2							6	10	9					6																	45390482		1279	2789	4068	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390482C>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.211C>G	6.37:g.45390482C>G	ENSP00000360493:p.Gln71Glu		Somatic				RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E	p.Q71E	NM_001024630.3	NP_001019801.3	WXS	Illumina GAIIx	Phase_I	Q13950	RUNX2_HUMAN			2	569	+			71			Poly-Gln.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.211C>G	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985548	0.35036	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	3.45	3.45	0.39498	.	1.972660	0.03402	N	0.203449	T	0.19248	0.0462	N	0.14661	0.345	0.27094	N	0.962779	B;B;B	0.23806	0.033;0.055;0.091	B;B;B	0.20384	0.029;0.013;0.029	T	0.13818	-1.0495	10	0.02654	T	1	.	14.8379	0.70197	0.0:1.0:0.0:0.0	.	139;71;57	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	E	71;139;139;71;71;57;57	ENSP00000420707:Q71E;ENSP00000319087:Q139E;ENSP00000446290:Q139E;ENSP00000360493:Q71E;ENSP00000360491:Q71E;ENSP00000352514:Q57E;ENSP00000360486:Q57E	ENSP00000319087:Q139E	Q	+	1	0	RUNX2	45498460	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.268000	0.33062	1.622000	0.50330	0.407000	0.27541	CAG		0.716	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	47	0	0	0	1	0	3	47					G	45390482	C	G	45390482	3	3	2	1	0	0	0	0	1	0	0	0	13763	711	25	5	233	5	RUNX2	6	45390482	Missense_Mutation	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08		45390482	125724585	19	82										
KIAA1244	57221	broad.mit.edu	37	chr6	138584324	138584324	+	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	gtcgtgcagagaagccacacGgtcccttaccctgacataac	9	14	0	2			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr6:138584324G>T	ENST00000251691.4	+	12	1870	c.1704G>T	c.(1702-1704)acG>acT	p.T568T		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)		GAAGCCACACGGTCCCTTACC	0.507																																						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.(1702-1704)acG>acT		KIAA1244							96	86	89					6																	138584324		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138584324G>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.1704G>T	6.37:g.138584324G>T			Somatic					p.T568T	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	1870	+	Breast(32;0.135)		568						Silent	SNP	ENST00000251691.4	37	c.1704G>T	CCDS5189.2																																																																																				0.507	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		10	118	1	0	1.76689e-08	1	1.96882e-08	10	118					T	138584324	G	T	138584324	2	4	2	1	0	0	0	0	0	0	0	1	8226	1103	39	5		5	KIAA1244	6	138584324	Silent	SNP	G	TCGA-N5-A4RA-01A-11D-A28R-08	93193842	138584324	32530743	20	83										
DDX56	54606	broad.mit.edu	37	chr7	44608737	44608737	+	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	acagcagctcaccctgcagcGatagcggaagccctcgatct	10	15	2	0			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr7:44608737G>T	ENST00000258772.5	-	10	1391	c.1285C>A	c.(1285-1287)Cgc>Agc	p.R429S	DDX56_ENST00000431640.1_Missense_Mutation_p.R389S|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	429					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)	p.R429C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						ACCCTGCAGCGATAGCGGAAG	0.627																																						ENST00000258772.5																			1	Substitution - Missense(1)	p.R429C(1)	large_intestine(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(1285-1287)Cgc>Agc		DEAD (Asp-Glu-Ala-Asp) box helicase 56							63	63	63					7																	44608737		2203	4300	6503	SO:0001583	missense	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44608737G>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.1285C>A	7.37:g.44608737G>T	ENSP00000258772:p.Arg429Ser		Somatic				DDX56_ENST00000431640.1_Missense_Mutation_p.R389S|DDX56_ENST00000485367.1_5'UTR	p.R429S	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	WXS	Illumina GAIIx	Phase_I	Q9NY93	DDX56_HUMAN			10	1391	-			429					A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	c.1285C>A	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	19.64	3.864869	0.71949	.	.	ENSG00000136271	ENST00000258772;ENST00000431640;ENST00000448192	T;T	0.06528	3.43;3.29	4.86	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.29423	0.0733	M	0.93062	3.375	0.54753	D	0.999989	P;D	0.69078	0.752;0.997	P;D	0.69142	0.553;0.962	T	0.17018	-1.0383	10	0.66056	D	0.02	-19.5189	10.6773	0.45794	0.0931:0.0:0.9069:0.0	.	389;429	C9JV95;Q9NY93	.;DDX56_HUMAN	S	429;389;34	ENSP00000258772:R429S;ENSP00000393488:R389S	ENSP00000258772:R429S	R	-	1	0	DDX56	44575262	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.252000	0.43196	1.268000	0.44264	0.655000	0.94253	CGC		0.627	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		20	74	1	0	1.96292e-10	1	2.28519e-10	20	74					T	44608737	G	T	44608737	3	4	2	1	0	0	0	0	1	0	0	0	4376	1058	37	2	378	2	DDX56	7	44608737	Missense_Mutation	SNP	G	TCGA-N5-A4RA-01A-11D-A28R-08		44608737	114529926	21	84										
MUC17	140453	broad.mit.edu	37	chr7	100684160	100684160	+	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	cttctgaaggtaccagcatgCcaacctcaactcctagtgaa	7	13	2	2			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr7:100684160C>T	ENST00000306151.4	+	3	9527	c.9463C>T	c.(9463-9465)Cca>Tca	p.P3155S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3155	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	0.478																																						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.(9463-9465)Cca>Tca		mucin 17, cell surface associated							296	301	299					7																	100684160		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684160C>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.9463C>T	7.37:g.100684160C>T	ENSP00000302716:p.Pro3155Ser		Somatic					p.P3155S	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	9527	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3155			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9463C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	2.356	-0.347730	0.05208	.	.	ENSG00000169876	ENST00000306151	T	0.06608	3.28	0.905	-1.81	0.07882	.	.	.	.	.	T	0.05227	0.0139	N	0.11560	0.145	0.09310	N	1	D	0.57571	0.98	D	0.70227	0.968	T	0.11275	-1.0594	9	0.05721	T	0.95	.	0.2536	0.00209	0.2082:0.1993:0.2083:0.3842	.	3155	Q685J3	MUC17_HUMAN	S	3155	ENSP00000302716:P3155S	ENSP00000302716:P3155S	P	+	1	0	MUC17	100470880	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-4.691000	0.00198	-1.762000	0.01308	0.121000	0.15741	CCA		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	758	0	0	0	1	0	6	758					T	100684160	C	T	100684160	3	4	2	1	0	0	0	0	1	0	0	0	9983	739	26	3	9473	3	MUC17	7	100684160	Missense_Mutation	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08	56075423	100684160	58454503	22	85										
PIK3CG	5294	broad.mit.edu	37	chr7	106508394	106508394	+	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	gctactggaaggccacgcacCggagcccgggccagatccac	13	16	0	1			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr7:106508394C>T	ENST00000359195.3	+	2	698	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R130W|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R130W	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	130	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGCCACGCACCGGAGCCCGGG	0.637																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(388-390)Cgg>Tgg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							19	21	21					7																	106508394		2203	4298	6501	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.chr7:106508394C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.388C>T	7.37:g.106508394C>T	ENSP00000352121:p.Arg130Trp		Somatic				PIK3CG_ENST00000440650.2_Missense_Mutation_p.R130W|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R130W	p.R130W	NM_002649.2	NP_002640.2	WXS	Illumina GAIIx	Phase_I	P48736	PK3CG_HUMAN			2	698	+			130					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.388C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	9.370	1.070184	0.20147	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70282	-0.47;-0.47;-0.47	5.52	-11.0	0.00169	.	0.373486	0.30109	N	0.010382	T	0.42832	0.1220	N	0.08118	0	0.09310	N	1	P	0.41978	0.767	B	0.34452	0.183	T	0.53774	-0.8391	10	0.72032	D	0.01	-10.5105	21.6521	0.99958	0.7435:0.2565:0.0:0.0	.	130	P48736	PK3CG_HUMAN	W	130	ENSP00000392258:R130W;ENSP00000419260:R130W;ENSP00000352121:R130W	ENSP00000352121:R130W	R	+	1	2	PIK3CG	106295630	0.000000	0.05858	0.000000	0.03702	0.144000	0.21451	-0.063000	0.11655	-1.658000	0.01490	0.467000	0.42956	CGG		0.637	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			33	39	0	0	0	1	0	33	39					T	106508394	C	T	106508394	3	4	2	1	0	0	0	0	1	0	0	0	11925	643	23	1	390	1	PIK3CG	7	106508394	Missense_Mutation	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08	5824234	106508394	52630269	23	86										
TNPO3	23534	broad.mit.edu	37	chr7	128630096	128630096	+	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	gtatcgcacagccgtatgtaCggtctccgggaggcggacaa	14	11	1	0	rs150330408		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr7:128630096C>T	ENST00000265388.5	-	11	1560	c.1417G>A	c.(1417-1419)Gta>Ata	p.V473I	TNPO3_ENST00000471166.1_Missense_Mutation_p.V507I|TNPO3_ENST00000471234.1_Missense_Mutation_p.V473I|TNPO3_ENST00000393245.1_Missense_Mutation_p.V507I|TNPO3_ENST00000482320.1_Missense_Mutation_p.V407I			Q9Y5L0	TNPO3_HUMAN	transportin 3	473					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GCCGTATGTACGGTCTCCGGG	0.478																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(1519-1521)Gta>Ata		transportin 3		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	176	151	159		1417,1417	5.7	0.3	7	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TNPO3	NM_001191028.2,NM_012470.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	473/860,473/924	128630096	1,13005	2203	4300	6503	SO:0001583	missense	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128630096C>T	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.1417G>A	7.37:g.128630096C>T	ENSP00000265388:p.Val473Ile		Somatic				TNPO3_ENST00000471234.1_Missense_Mutation_p.V473I|TNPO3_ENST00000265388.5_Missense_Mutation_p.V473I|TNPO3_ENST00000471166.1_Missense_Mutation_p.V507I|TNPO3_ENST00000482320.1_Missense_Mutation_p.V407I	p.V507I	NM_012470.3	NP_036602.1	WXS	Illumina GAIIx	Phase_I	Q9Y5L0	TNPO3_HUMAN			11	1892	-			473					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	c.1519G>A	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925090	0.73213	0.0	1.16E-4	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.35307	0.0927	L	0.43152	1.355	0.54753	D	0.999985	P;D;P	0.69078	0.622;0.997;0.792	B;P;B	0.44946	0.109;0.465;0.216	T	0.04229	-1.0967	10	0.18710	T	0.47	.	17.3149	0.87220	0.0:1.0:0.0:0.0	.	473;507;473	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	I	507;473;407;473;507	ENSP00000376936:V507I;ENSP00000265388:V473I;ENSP00000420089:V407I;ENSP00000418646:V473I;ENSP00000418267:V507I	ENSP00000265388:V473I	V	-	1	0	TNPO3	128417332	1.000000	0.71417	0.302000	0.25058	0.951000	0.60555	7.439000	0.80444	2.683000	0.91414	0.655000	0.94253	GTA		0.478	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		88	107	0	0	0	1	0	88	107					T	128630096	C	T	128630096	3	4	2	1	0	0	0	0	1	0	0	0	16352	536	19	1	1402	1	TNPO3	7	128630096	Missense_Mutation	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08	22121702	128630096	30508567	24	87										
BAG4	9530	broad.mit.edu	37	chr8	38067982	38067982	+	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	tttgtaagattcaggccataCtggaaaaattagaaaaaaaa	7	4	1	2			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr8:38067982C>G	ENST00000287322.4	+	5	1616	c.1345C>G	c.(1345-1347)Ctg>Gtg	p.L449V	BAG4_ENST00000432471.2_Missense_Mutation_p.L413V	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	449	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TCAGGCCATACTGGAAAAATT	0.408																																						ENST00000287322.4																			0				breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11						c.(1345-1347)Ctg>Gtg		BCL2-associated athanogene 4							31	35	33					8																	38067982		2196	4285	6481	SO:0001583	missense	9530				anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity	g.chr8:38067982C>G	AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"silencer of death domains"	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.1345C>G	8.37:g.38067982C>G	ENSP00000287322:p.Leu449Val		Somatic				BAG4_ENST00000432471.2_Missense_Mutation_p.L413V	p.L449V	NM_004874.3	NP_004865.1	WXS	Illumina GAIIx	Phase_I	O95429	BAG4_HUMAN			5	1616	+	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	449			BAG.		B4E217|O95818	Missense_Mutation	SNP	ENST00000287322.4	37	c.1345C>G	CCDS6104.1	.	.	.	.	.	.	.	.	.	.	C	6.600	0.479001	0.12581	.	.	ENSG00000156735	ENST00000432471;ENST00000287322	D;D	0.91740	-2.9;-2.9	5.27	1.33	0.21861	BAG domain (3);	0.000000	0.64402	D	0.000004	D	0.93465	0.7915	L	0.56280	1.765	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.91134	0.4940	10	0.56958	D	0.05	-9.822	9.4192	0.38541	0.0:0.7115:0.0:0.2885	.	413;449	B4E217;O95429	.;BAG4_HUMAN	V	413;449	ENSP00000393298:L413V;ENSP00000287322:L449V	ENSP00000287322:L449V	L	+	1	2	BAG4	38187139	0.997000	0.39634	0.995000	0.50966	0.044000	0.14063	2.337000	0.43947	0.036000	0.15547	0.552000	0.68991	CTG		0.408	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874		4	96	0	0	0	1	0	4	96					G	38067982	C	G	38067982	3	3	2	1	0	0	0	0	1	0	0	0	1289	564	20	5	1363	5	BAG4	8	38067982	Missense_Mutation	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08		38067982	108296040	25	88										
TGS1	96764	broad.mit.edu	37	chr8	56711599	56711599	+	Frame_Shift_Del	DEL	A	A	-													0	0	1	0	0	0	1	1	0	aggaacaagacatgtctgttAaaaaaggtgatgacctactg					rs375596621		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr8:56711599delA	ENST00000260129.5	+	8	2146	c.1669delA	c.(1669-1671)aaafs	p.K558fs		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	558					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)			CATGTCTGTTAAAAAAGGTGA	0.403																																					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.(1669-1671)aafs		trimethylguanosine synthase 1							136	119	125					8																	56711599		2203	4300	6503	SO:0001589	frameshift_variant	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.chr8:56711599delA	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.1669delA	8.37:g.56711599delA	ENSP00000260129:p.Lys558fs		Somatic					p.K558fs	NM_024831.6	NP_079107.6	WXS	Illumina GAIIx	Phase_I	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		8	2146	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	558					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Frame_Shift_Del	DEL	ENST00000260129.5	37	c.1669delA	CCDS34894.1																																																																																				0.403	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		7	834						7	834	---	---	---	---	-	56711599	A	-	56711599	7	5	2	1	0	1	0	1	0	0	0	0	15852	363	13	0	1699	0	TGS1	8	56711599	Frame_Shift_Del	DEL	A	TCGA-N5-A4RA-01A-11D-A28R-08	18643617	56711599	89652423	26	89										
SULF1	23213	broad.mit.edu	37	chr8	70541903	70541903	+	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	caaccactggcagacagcccCgttctggaaccgtaagttgc	10	14	1	1			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr8:70541903C>G	ENST00000260128.4	+	19	2990	c.2273C>G	c.(2272-2274)cCg>cGg	p.P758R	SULF1_ENST00000402687.4_Missense_Mutation_p.P758R|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.P758R|SULF1_ENST00000458141.2_Missense_Mutation_p.P758R	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>cGg		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>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.2273C>G	8.37:g.70541903C>G	ENSP00000260128:p.Pro758Arg		Somatic				SULF1_ENST00000458141.2_Missense_Mutation_p.P758R|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.P758R|SULF1_ENST00000419716.3_Missense_Mutation_p.P758R	p.P758R	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>G	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566720	0.86439	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	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	R	758	ENSP00000403040:P758R;ENSP00000260128:P758R;ENSP00000385704:P758R;ENSP00000390315:P758R	ENSP00000260128:P758R	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		66	1417	0	0	0	1	0	66	1417					G	70541903	C	G	70541903	3	3	2	1	0	0	0	0	1	0	0	0	15385	652	23	5	2331	5	SULF1	8	70541903	Missense_Mutation	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08	13830304	70541903	75822119	27	90										
MTSS1	9788	broad.mit.edu	37	chr8	125711778	125711778	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tctgcttaccacgtgtgttgGtggccatgtcagccactttc	10	12	2	0			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr8:125711778G>T	ENST00000518547.1	-	3	670	c.197C>A	c.(196-198)aCc>aAc	p.T66N	MTSS1_ENST00000378017.3_Missense_Mutation_p.T66N|MTSS1_ENST00000325064.5_Missense_Mutation_p.T66N|MTSS1_ENST00000354184.4_5'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	66	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACGTGTGTTGGTGGCCATGTC	0.493																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(196-198)aCc>aAc		metastasis suppressor 1							163	118	134					8																	125711778		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125711778G>T	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.197C>A	8.37:g.125711778G>T	ENSP00000429064:p.Thr66Asn		Somatic				MTSS1_ENST00000325064.5_Missense_Mutation_p.T66N|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.T66N	p.T66N	NM_014751.4	NP_055566.3	WXS	Illumina GAIIx	Phase_I	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		3	670	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		66			IMD.		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.197C>A	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.057149|4.057149	0.76074|0.76074	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000522162|ENST00000378017;ENST00000518547;ENST00000325064	.|T;T;T	.|0.34859	.|1.34;1.37;1.37	5.48|5.48	5.48|5.48	0.80851|0.80851	.|IRSp53/MIM homology domain (IMD) (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57154|0.57154	0.2034|0.2034	L|L	0.56396|0.56396	1.775|1.775	0.80722|0.80722	D|D	1|1	.|D;B;P	.|0.65815	.|0.995;0.013;0.775	.|D;B;B	.|0.69479	.|0.964;0.111;0.41	T|T	0.52563|0.52563	-0.8559|-0.8559	5|10	.|0.40728	.|T	.|0.16	-25.1392|-25.1392	18.9393|18.9393	0.92598|0.92598	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|66;66;66	.|A5YM41;O43312;O43312-4	.|.;MTSS1_HUMAN;.	T|N	61|66	.|ENSP00000367256:T66N;ENSP00000429064:T66N;ENSP00000322804:T66N	.|ENSP00000322804:T66N	P|T	-|-	1|2	0|0	MTSS1|MTSS1	125780959|125780959	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.378000|6.378000	0.73150|0.73150	2.565000|2.565000	0.86533|0.86533	0.650000|0.650000	0.86243|0.86243	CCA|ACC		0.493	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		26	24	1	0	2.41591e-17	1	2.89909e-17	26	24					T	125711778	G	T	125711778	3	4	2	1	0	0	0	0	1	0	0	0	9971	1261	44	5	2118	5	MTSS1	8	125711778	Missense_Mutation	SNP	G	TCGA-N5-A4RA-01A-11D-A28R-08	55169875	125711778	20652244	28	91										
KIAA1797	54914	broad.mit.edu	37	chr9	20862655	20862655	+	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	gacctctcattctgaagacaCtgagtgaactattttctcta	6	10	3	4	rs374337191		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr9:20862655C>T	ENST00000380249.1	+	18	2363	c.1999C>T	c.(1999-2001)Ctg>Ttg	p.L667L	FOCAD_ENST00000338382.6_Silent_p.L667L|FOCAD_ENST00000605086.1_Silent_p.L103L	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	667						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TCTGAAGACACTGAGTGAACT	0.428																																						ENST00000380249.1																			0											c.(1999-2001)Ctg>Ttg		focadhesin							213	179	191					9																	20862655		2203	4300	6503	SO:0001819	synonymous_variant	54914					integral to membrane	binding	g.chr9:20862655C>T	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.1999C>T	9.37:g.20862655C>T			Somatic				FOCAD_ENST00000605086.1_Silent_p.L103L|FOCAD_ENST00000338382.6_Silent_p.L667L	p.L667L	NM_017794.3	NP_060264.3	WXS	Illumina GAIIx	Phase_I	Q5VW36	K1797_HUMAN			18	2363	+			667					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	c.1999C>T	CCDS34993.1																																																																																				0.428	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		67	8	0	0	0	1	0	67	8					T	20862655	C	T	20862655	2	4	2	1	0	0	0	0	0	0	0	1	8267	564	20	3		3	KIAA1797	9	20862655	Silent	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08		20862655	120350776	29	92										
ZMIZ1	57178	broad.mit.edu	37	chr10	81050918	81050918	+	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	gcccaactaccccggcagcgGgggctttggggccaggtgag	17	13	0	1			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr10:81050918G>A	ENST00000334512.5	+	10	1315	c.743G>A	c.(742-744)gGg>gAg	p.G248E	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	248					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)			CCCGGCAGCGGGGGCTTTGGG	0.652																																						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.(742-744)gGg>gAg		zinc finger, MIZ-type containing 1							16	18	17					10																	81050918		2202	4296	6498	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81050918G>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.743G>A	10.37:g.81050918G>A	ENSP00000334474:p.Gly248Glu		Somatic				ZMIZ1_ENST00000478357.1_3'UTR	p.G248E	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	1315	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		248					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.743G>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946082	0.73672	.	.	ENSG00000108175	ENST00000334512;ENST00000360331	T	0.39056	1.1	5.67	5.67	0.87782	.	0.000000	0.42172	D	0.000752	T	0.59824	0.2222	L	0.44542	1.39	0.80722	D	1	D;P	0.89917	1.0;0.949	D;P	0.97110	1.0;0.778	T	0.57429	-0.7813	10	0.51188	T	0.08	-11.4849	19.7667	0.96346	0.0:0.0:1.0:0.0	.	158;248	Q9H7J0;Q9ULJ6	.;ZMIZ1_HUMAN	E	248;178	ENSP00000334474:G248E	ENSP00000334474:G248E	G	+	2	0	ZMIZ1	80720924	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	9.476000	0.97823	2.681000	0.91329	0.655000	0.94253	GGG		0.652	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		7	38	0	0	0	1	0	7	38					A	81050918	G	A	81050918	3	1	2	1	0	0	0	0	1	0	0	0	17711	1232	43	3	765	3	ZMIZ1	10	81050918	Missense_Mutation	SNP	G	TCGA-N5-A4RA-01A-11D-A28R-08		81050918	54483829	30	93										
OR51G1	79324	broad.mit.edu	37	chr11	4944753	4944753	+	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	ggacatgaagaggtgtacaaCgcggggcagatgttcaccaa	14	8	1	3	rs565245626		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr11:4944753C>T	ENST00000321961.2	-	1	884	c.817G>A	c.(817-819)Gtt>Att	p.V273I	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	273						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)		AGGTGTACAACGCGGGGCAGA	0.493																																						ENST00000321961.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(817-819)Gtt>Att		olfactory receptor, family 51, subfamily G, member 1							202	168	180					11																	4944753		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4944753C>T	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.817G>A	11.37:g.4944753C>T	ENSP00000322546:p.Val273Ile		Somatic				MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.V273I	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	884	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	273					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.817G>A	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.507679	0.00155	.	.	ENSG00000176879	ENST00000321961	T	0.00115	8.71	4.53	-0.713	0.11223	GPCR, rhodopsin-like superfamily (1);	1.246050	0.06077	N	0.661196	T	0.00073	0.0002	N	0.13140	0.3	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03898	-1.0994	10	0.14252	T	0.57	.	2.6694	0.05063	0.1208:0.1639:0.1236:0.5917	.	273	Q8NGK1	O51G1_HUMAN	I	273	ENSP00000322546:V273I	ENSP00000322546:V273I	V	-	1	0	OR51G1	4901329	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-0.657000	0.05335	-0.029000	0.13827	-1.375000	0.01183	GTT		0.493	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		5	106	0	0	0	1	0	5	106					T	4944753	C	T	4944753	3	4	2	1	0	0	0	0	1	0	0	0	11107	536	19	1	150	1	OR51G1	11	4944753	Missense_Mutation	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08		4944753	130061763	31	94										
SCUBE2	57758	broad.mit.edu	37	chr11	9082062	9082062	+	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	cacagcctccattgttgacaGcacacgtttctggcaaggag	10	12	1	1			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr11:9082062G>A	ENST00000309263.3	-	8	932	c.860C>T	c.(859-861)gCt>gTt	p.A287V	SCUBE2_ENST00000457346.2_Missense_Mutation_p.A287V|SCUBE2_ENST00000450649.2_Missense_Mutation_p.A287V|RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.A287V			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	287	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.					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)		ATTGTTGACAGCACACGTTTC	0.498																																						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.(859-861)gCt>gTt		signal peptide, CUB domain, EGF-like 2							150	139	143					11																	9082062		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9082062G>A	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.860C>T	11.37:g.9082062G>A	ENSP00000310658:p.Ala287Val		Somatic				SCUBE2_ENST00000450649.2_Missense_Mutation_p.A287V|RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.A287V|SCUBE2_ENST00000309263.3_Missense_Mutation_p.A287V	p.A287V			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)	8	934	-			287			EGF-like 6 (Potential).		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.860C>T		.	.	.	.	.	.	.	.	.	.	G	33	5.228865	0.95173	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06	5.94	5.94	0.96194	Epidermal growth factor-like (1);	0.045125	0.85682	D	0.000000	D	0.97955	0.9327	M	0.73430	2.235	0.80722	D	1	D;D;D	0.69078	0.964;0.992;0.997	P;D;P	0.68039	0.841;0.955;0.899	D	0.97927	1.0318	10	0.59425	D	0.04	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	287;287;287	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	V	287	ENSP00000390481:A287V;ENSP00000310658:A287V;ENSP00000415187:A287V;ENSP00000429969:A287V	ENSP00000310658:A287V	A	-	2	0	SCUBE2	9038638	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	GCT		0.498	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		4	134	0	0	0	1	0	4	134					A	9082062	G	A	9082062	3	1	2	1	0	0	0	0	1	0	0	0	13960	971	34	3	2290	3	SCUBE2	11	9082062	Missense_Mutation	SNP	G	TCGA-N5-A4RA-01A-11D-A28R-08	4137309	9082062	125924454	32	95										
MAP3K11	399909	broad.mit.edu	37	chr11	65380919	65380919	+	5'Flank	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	tcgcaggggggcgggccgccAccccgagacacatagttgga	16	13	0	1			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr11:65380919A>C	ENST00000355703.3	+	0	0				MAP3K11_ENST00000530153.1_5'Flank|MAP3K11_ENST00000309100.3_Silent_p.G103G	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCGGGCCGCCACCCCGAGACA	0.687																																						ENST00000309100.3																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						c.(307-309)ggT>ggG		mitogen-activated protein kinase kinase kinase 11							30	32	31					11																	65380919		2199	4295	6494	SO:0001631	upstream_gene_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65380919A>C	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65380919A>C	Exception_encountered		Somatic					p.G103G	NM_002419.3	NP_002410.1	WXS	Illumina GAIIx	Phase_I	Q16584	M3K11_HUMAN			1	794	-			103			Gly-rich.|SH3.		Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.309T>G	CCDS44650.1																																																																																				0.687	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		9	113	0	0	0	1	0	9	113					C	65380919	A	C	65380919	1	2	2	0	1	0	0	0	0	0	0	0	9254	146	6	4		4	MAP3K11	11	65380919	5'Flank	SNP	A	TCGA-N5-A4RA-01A-11D-A28R-08	56298857	65380919	69625597	33	96										
NTF3	4908	broad.mit.edu	37	chr12	5603608	5603609	+	Frame_Shift_Ins	INS	-	-	C													0	0	1	0	0	0	1	1	0	gagagccggagcggggagggINScccgccaagtcagcattcca					rs370431415		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr12:5603608_5603609insC	ENST00000331010.6	+	1	311_312	c.228_229insC	c.(229-231)cccfs	p.P77fs	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Frame_Shift_Ins_p.P90fs	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	77					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AGCGGGGAGGGCCCGCCAAGTC	0.579																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(265-270)ggccgcfs		neurotrophin 3																																				SO:0001589	frameshift_variant	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603608_5603609insC		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"Endogenous ligands"	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.231dupC	12.37:g.5603611_5603611dupC	ENSP00000328738:p.Pro77fs		Somatic				NTF3_ENST00000331010.6_Frame_Shift_Ins_p.R77fs|NTF3_ENST00000535299.1_Intron	p.R90fs	NM_001102654.1	NP_001096124.1	WXS	Illumina GAIIx	Phase_I	P20783	NTF3_HUMAN			2	479_480	+			77					B7Z1T5|Q6FH50	Frame_Shift_Ins	INS	ENST00000331010.6	37	c.267_268insC	CCDS8538.1																																																																																				0.579	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			8	125						8	125	---	---	---	---	C	5603609	-	C	5603608	7	5	2	1	0	1	1	0	0	0	0	0	10705	1190	42	0	273	0	NTF3	12	5603608	Frame_Shift_Ins	INS	-	TCGA-N5-A4RA-01A-11D-A28R-08		5603608	128248287	34	97										
PRH1	5554	broad.mit.edu	37	chr12	11036812	11036812	+	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	ccactgacagcagaatcagaAgcatcttgcaggaggctctg	11	11	3	3			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr12:11036812A>G	ENST00000428168.2	-	1	42	c.5T>C	c.(4-6)cTt>cCt	p.L2P	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	2						extracellular space (GO:0005615)				endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		CAGAATCAGAAGCATCTTGCA	0.488																																						ENST00000428168.2																			0				endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(4-6)cTt>cCt		proline-rich protein HaeIII subfamily 1							83	82	83					12																	11036812		2203	4300	6503	SO:0001583	missense	5554					extracellular space	protein binding	g.chr12:11036812A>G			12p13.2	2013-05-10			ENSG00000231887	ENSG00000231887			9366	protein-coding gene	gene with protein product		168730				3009472	Standard	NM_001291314		Approved	Pa	uc021qvf.1	P02810		ENST00000428168.2:c.5T>C	12.37:g.11036812A>G	ENSP00000412436:p.Leu2Pro		Somatic				PRR4_ENST00000536668.1_5'UTR	p.L2P	NM_006250.3	NP_006241.2	WXS	Illumina GAIIx	Phase_I	P02810	PRPC_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.245)	1	42	-			2					A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	ENST00000428168.2	37	c.5T>C		.	.	.	.	.	.	.	.	.	.	A	2.576	-0.298530	0.05532	.	.	ENSG00000231887	ENST00000428168	T	0.19806	2.12	1.24	-0.0563	0.13805	.	.	.	.	.	T	0.19485	0.0468	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.28332	-1.0047	6	0.87932	D	0	.	4.0058	0.09600	0.6174:0.3826:0.0:0.0	.	.	.	.	P	2	ENSP00000412436:L2P	ENSP00000412436:L2P	L	-	2	0	PRH1	10928079	0.593000	0.26840	0.068000	0.19968	0.236000	0.25371	0.934000	0.28910	-0.031000	0.13781	0.254000	0.18369	CTT		0.488	PRH1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006250		19	61	0	0	0	1	0	19	61					G	11036812	A	G	11036812	3	3	2	1	0	0	0	0	1	0	0	0	12494	72	3	4	511	4	PRH1	12	11036812	Missense_Mutation	SNP	A	TCGA-N5-A4RA-01A-11D-A28R-08	5433204	11036812	122815083	35	98										
KRT6C	286887	broad.mit.edu	37	chr12	52865910	52865910	+	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	gctccgagtccaggcggcccCgttccccgacgatgctgtcc	12	18	0	0	rs370835586		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr12:52865910C>T	ENST00000252250.6	-	2	742	c.695G>A	c.(694-696)cGg>cAg	p.R232Q		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	232	Coil 1B.|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)		CAGGCGGCCCCGTTCCCCGAC	0.572																																						ENST00000252250.6																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(694-696)cGg>cAg		keratin 6C							142	97	112					12																	52865910		2203	4300	6503	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52865910C>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.695G>A	12.37:g.52865910C>T	ENSP00000252250:p.Arg232Gln		Somatic					p.R232Q	NM_173086.4	NP_775109.2	WXS	Illumina GAIIx	Phase_I	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	2	742	-			232			Coil 1B.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.695G>A	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105070	0.37145	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.90197	-2.63	2.89	-0.063	0.13778	Filament (1);	0.307385	0.27126	N	0.020819	D	0.91219	0.7233	L	0.51853	1.615	0.09310	N	1	D	0.76494	0.999	D	0.68943	0.961	D	0.83562	0.0107	10	0.42905	T	0.14	.	8.4991	0.33148	0.0:0.5396:0.0:0.4604	.	232	P48668	K2C6C_HUMAN	Q	232;217	ENSP00000252250:R232Q	ENSP00000252250:R232Q	R	-	2	0	KRT6C	51152177	0.253000	0.23982	0.003000	0.11579	0.010000	0.07245	1.334000	0.33827	-0.030000	0.13804	-0.481000	0.04817	CGG		0.572	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		100	24	0	0	0	1	0	100	24					T	52865910	C	T	52865910	3	4	2	1	0	0	0	0	1	0	0	0	8491	652	23	1	1031	1	KRT6C	12	52865910	Missense_Mutation	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08	41829098	52865910	80985985	36	99										
TPTE2	93492	broad.mit.edu	37	chr13	20041425	20041425	+	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	aaatgacatcaaccagcagaGgaatcacaataatggcagta	8	8	2	2			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr13:20041425G>A	ENST00000400230.2	-	7	496	c.452C>T	c.(451-453)cCt>cTt	p.P151L	TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.P151L|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382978.1_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	151					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)		AACCAGCAGAGGAATCACAAT	0.289																																						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.(451-453)cCt>cTt		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							44	49	47					13																	20041425		2200	4286	6486	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.chr13:20041425G>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.452C>T	13.37:g.20041425G>A	ENSP00000383089:p.Pro151Leu		Somatic				TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.P151L	p.P151L			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)	7	496	-		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)	151					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.452C>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	6.283	0.420270	0.11928	.	.	ENSG00000132958	ENST00000400230;ENST00000382977;ENST00000343548	D;D	0.98192	-4.78;-4.78	2.4	0.601	0.17529	Ion transport (1);	0.059488	0.64402	U	0.000003	D	0.92113	0.7500	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	D	0.83990	0.0337	9	.	.	.	-7.6157	4.5038	0.11878	0.3382:0.0:0.6618:0.0	.	151	Q6XPS3	TPTE2_HUMAN	L	151	ENSP00000383089:P151L;ENSP00000372437:P151L	.	P	-	2	0	TPTE2	18939425	0.949000	0.32298	0.001000	0.08648	0.007000	0.05969	0.687000	0.25407	0.110000	0.17919	0.467000	0.42956	CCT		0.289	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		3	78	0	0	0	1	0	3	78					A	20041425	G	A	20041425	3	1	2	1	0	0	0	0	1	0	0	0	16446	1000	35	3	1172	3	TPTE2	13	20041425	Missense_Mutation	SNP	G	TCGA-N5-A4RA-01A-11D-A28R-08		20041425	95128453	37	100										
TRPC4	7223	broad.mit.edu	37	chr13	38237782	38237782	+	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	gatcagacgcagagaactgaAgatgtttgcaatagcaaata	10	6	1	4			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr13:38237782A>C	ENST00000379705.3	-	6	2316	c.1459T>G	c.(1459-1461)Ttc>Gtc	p.F487V	TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.F487V|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000338947.5_Missense_Mutation_p.F314V|TRPC4_ENST00000379673.2_Missense_Mutation_p.F487V|TRPC4_ENST00000379679.1_Missense_Mutation_p.F314V|TRPC4_ENST00000358477.2_Missense_Mutation_p.F487V|TRPC4_ENST00000355779.2_Missense_Mutation_p.F487V|TRPC4_ENST00000379681.3_Missense_Mutation_p.F487V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	487					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)		AGAGAACTGAAGATGTTTGCA	0.448																																						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.(1459-1461)Ttc>Gtc		transient receptor potential cation channel, subfamily C, member 4							72	72	72					13																	38237782		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.chr13:38237782A>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.1459T>G	13.37:g.38237782A>C	ENSP00000369027:p.Phe487Val		Somatic				TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.F487V|TRPC4_ENST00000358477.2_Missense_Mutation_p.F487V|TRPC4_ENST00000379679.1_Missense_Mutation_p.F314V|TRPC4_ENST00000338947.5_Missense_Mutation_p.F314V|TRPC4_ENST00000379681.3_Missense_Mutation_p.F487V|TRPC4_ENST00000379673.2_Missense_Mutation_p.F487V|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.F487V	p.F487V			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	2316	-			487					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1459T>G	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.735658	0.89482	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11	5.78	5.78	0.91487	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	L	0.58925	1.835	0.80722	D	1	P;P;D;P;P;B	0.61080	0.846;0.846;0.989;0.937;0.84;0.08	B;P;D;P;P;B	0.72982	0.358;0.611;0.979;0.805;0.702;0.283	D	0.99902	1.1166	10	0.87932	D	0	-23.8361	16.3979	0.83621	1.0:0.0:0.0:0.0	.	487;487;487;314;487;487	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	V	487;487;314;314;487;487;487;487	ENSP00000369027:F487V;ENSP00000369003:F487V;ENSP00000342580:F314V;ENSP00000369001:F314V;ENSP00000348025:F487V;ENSP00000351264:F487V;ENSP00000368995:F487V;ENSP00000414316:F487V	ENSP00000342580:F314V	F	-	1	0	TRPC4	37135782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.420000	0.80191	2.333000	0.79357	0.533000	0.62120	TTC		0.448	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		22	53	0	0	0	1	0	22	53					C	38237782	A	C	38237782	3	2	2	1	0	0	0	0	1	0	0	0	16595	72	3	4	1513	4	TRPC4	13	38237782	Missense_Mutation	SNP	A	TCGA-N5-A4RA-01A-11D-A28R-08	18196357	38237782	76932096	38	101										
ARID4A	5926	broad.mit.edu	37	chr14	58795010	58795010	+	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	gaaaaaggatcagtgtttagTtcgatcatttattgattcta	8	4	3	1			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr14:58795010T>G	ENST00000355431.3	+	9	1011	c.638T>G	c.(637-639)gTt>gGt	p.V213G	ARID4A_ENST00000431317.2_Missense_Mutation_p.V213G|ARID4A_ENST00000348476.3_Missense_Mutation_p.V213G|ARID4A_ENST00000395168.3_Missense_Mutation_p.V213G	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	213					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAGTGTTTAGTTCGATCATTT	0.333																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(637-639)gTt>gGt		AT rich interactive domain 4A (RBP1-like)							127	122	124					14																	58795010		2203	4294	6497	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58795010T>G	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.638T>G	14.37:g.58795010T>G	ENSP00000347602:p.Val213Gly		Somatic				ARID4A_ENST00000395168.3_Missense_Mutation_p.V213G|ARID4A_ENST00000431317.2_Missense_Mutation_p.V213G|ARID4A_ENST00000348476.3_Missense_Mutation_p.V213G	p.V213G	NM_002892.3	NP_002883.3	WXS	Illumina GAIIx	Phase_I	P29374	ARI4A_HUMAN			9	1011	+			213					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.638T>G	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.744710	0.89663	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000445108;ENST00000431317	T;T;T;T	0.29917	1.56;1.55;1.58;1.55	5.52	5.52	0.82312	RBB1NT (1);	0.165435	0.53938	D	0.000059	T	0.57740	0.2074	M	0.79693	2.465	0.80722	D	1	D;P;P	0.67145	0.996;0.869;0.752	D;P;P	0.69307	0.963;0.851;0.699	T	0.64015	-0.6506	10	0.87932	D	0	-5.0776	15.7076	0.77598	0.0:0.0:0.0:1.0	.	213;213;213	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	G	213;213;213;176;213	ENSP00000347602:V213G;ENSP00000344556:V213G;ENSP00000378597:V213G;ENSP00000397368:V213G	ENSP00000344556:V213G	V	+	2	0	ARID4A	57864763	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.983000	0.70540	2.126000	0.65437	0.524000	0.50904	GTT		0.333	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		15	20	0	0	0	1	0	15	20					G	58795010	T	G	58795010	3	3	2	1	0	0	0	0	1	0	0	0	919	1725	60	4	668	4	ARID4A	14	58795010	Missense_Mutation	SNP	T	TCGA-N5-A4RA-01A-11D-A28R-08		58795010	48554530	39	102										
DAAM1	23002	broad.mit.edu	37	chr14	59793305	59793305	+	Nonsense_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	agatagttatccagaatgacAaaggacaggaccctgactcc	9	10	0	4			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr14:59793305A>T	ENST00000395125.1	+	10	1275	c.1252A>T	c.(1252-1254)Aaa>Taa	p.K418*	DAAM1_ENST00000351081.1_Nonsense_Mutation_p.K418*|DAAM1_ENST00000360909.3_Nonsense_Mutation_p.K418*	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	418	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				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)		CCAGAATGACAAAGGACAGGA	0.378																																						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.(1252-1254)Aaa>Taa		dishevelled associated activator of morphogenesis 1							81	83	82					14																	59793305		2203	4300	6503	SO:0001587	stop_gained	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59793305A>T	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.1252A>T	14.37:g.59793305A>T	ENSP00000378557:p.Lys418*		Somatic				DAAM1_ENST00000360909.3_Nonsense_Mutation_p.K418*|DAAM1_ENST00000351081.1_Nonsense_Mutation_p.K418*	p.K418*	NM_014992.2	NP_055807.1	WXS	Illumina GAIIx	Phase_I	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	10	1275	+			418			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Nonsense_Mutation	SNP	ENST00000395125.1	37	c.1252A>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	38	7.223021	0.98146	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3351	0.83056	1.0:0.0:0.0:0.0	.	.	.	.	X	418	.	ENSP00000247170:K418X	K	+	1	0	DAAM1	58863058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.256000	0.78350	2.262000	0.75019	0.528000	0.53228	AAA		0.378	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		46	45	0	0	0	1	0	46	45					T	59793305	A	T	59793305	4	4	2	1	0	0	0	0	0	1	0	0	4217	131	5	4	1290	4	DAAM1	14	59793305	Nonsense_Mutation	SNP	A	TCGA-N5-A4RA-01A-11D-A28R-08	998295	59793305	47556235	40	103										
SPTB	6710	broad.mit.edu	37	chr14	65253730	65253730	+	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	gatgatacctgccaggtcccGccccaggtcttttgtggact	11	13	1	1	rs371628390	byFrequency	TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr14:65253730G>A	ENST00000389721.5	-	15	2985	c.2953C>T	c.(2953-2955)Cgg>Tgg	p.R985W	SPTB_ENST00000556626.1_Missense_Mutation_p.R985W|SPTB_ENST00000542895.1_Missense_Mutation_p.R985W|SPTB_ENST00000389720.3_Missense_Mutation_p.R985W|SPTB_ENST00000389722.3_Missense_Mutation_p.R985W	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	985					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)		GCCAGGTCCCGCCCCAGGTCT	0.602													g|||	2	0.000399361	8e-04	0	5008	,	,		18467	0		0	False		,,,				2504	0.001					ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(2953-2955)Cgg>Tgg		spectrin, beta, erythrocytic			TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	81	76	78		2953,2953	4.2	1	14		78	0,8600		0,0,4300	no	missense,missense	SPTB	NM_000347.5,NM_001024858.2	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	985/2138,985/2329	65253730	1,13005	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.chr14:65253730G>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.2953C>T	14.37:g.65253730G>A	ENSP00000374371:p.Arg985Trp		Somatic				SPTB_ENST00000556626.1_Missense_Mutation_p.R985W|SPTB_ENST00000542895.1_Missense_Mutation_p.R985W|SPTB_ENST00000389720.3_Missense_Mutation_p.R985W|SPTB_ENST00000389721.5_Missense_Mutation_p.R985W	p.R985W	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)	15	3006	-		all_lung(585;4.15e-09)	985					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.2953C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028681	0.75390	2.27E-4	0.0	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.06	4.16	0.48862	.	0.443348	0.24463	N	0.038311	T	0.55194	0.1905	M	0.68952	2.095	0.20074	N	0.999935	D;D	0.60160	0.987;0.977	P;P	0.51453	0.67;0.67	T	0.52902	-0.8513	10	0.72032	D	0.01	.	11.6703	0.51396	0.0:0.0:0.5623:0.4377	.	985;989	P11277;Q59FP5	SPTB1_HUMAN;.	W	989;985;985;985;985;985	ENSP00000374372:R985W;ENSP00000451752:R985W;ENSP00000374371:R985W;ENSP00000443882:R985W;ENSP00000374370:R985W	ENSP00000374370:R985W	R	-	1	2	SPTB	64323483	0.000000	0.05858	0.992000	0.48379	0.992000	0.81027	0.862000	0.27899	1.253000	0.44018	0.549000	0.68633	CGG		0.602	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			28	42	0	0	0	1	0	28	42					A	65253730	G	A	65253730	3	1	2	1	0	0	0	0	1	0	0	0	15133	1086	38	1	4186	1	SPTB	14	65253730	Missense_Mutation	SNP	G	TCGA-N5-A4RA-01A-11D-A28R-08	5460425	65253730	42095810	41	104										
MAPKBP1	23005	broad.mit.edu	37	chr15	42109861	42109861	+	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	acaccacgtggtgcggaagaCgaccctctatgacatggatg	12	11	1	2	rs375353103		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr15:42109861C>T	ENST00000456763.2	+	17	2046	c.1850C>T	c.(1849-1851)aCg>aTg	p.T617M	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.T494M|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.T450M|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.T611M|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.T611M	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	617										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)		GTGCGGAAGACGACCCTCTAT	0.612													c|||	1	0.000199681	0	0.0014	5008	,	,		18004	0		0	False		,,,				2504	0					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.(1831-1833)aCg>aTg		mitogen-activated protein kinase binding protein 1		C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	90	74	79		1850,1832	5.5	1	15		79	0,8600		0,0,4300	no	missense,missense	MAPKBP1	NM_001128608.1,NM_014994.2	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	617/1515,611/1509	42109861	1,13005	2203	4300	6503	SO:0001583	missense	23005							g.chr15:42109861C>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.1850C>T	15.37:g.42109861C>T	ENSP00000393099:p.Thr617Met		Somatic				MAPKBP1_ENST00000456763.2_Missense_Mutation_p.T617M|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.T494M|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.T450M|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.T611M	p.T611M	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)	16	2118	+		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)	617					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1832C>T	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	c	34	5.329909	0.95733	2.27E-4	0.0	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.66280	1.56;1.56;0.77;-0.2;1.13	5.52	5.52	0.82312	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80778	0.4688	M	0.79258	2.445	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	0.79784	0.992;0.993;0.991;0.972;0.988	T	0.82682	-0.0336	10	0.87932	D	0	-9.8343	19.4398	0.94813	0.0:1.0:0.0:0.0	.	450;494;611;617;611	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	M	611;494;450;617;611	ENSP00000397570:T611M;ENSP00000221214:T494M;ENSP00000260357:T450M;ENSP00000393099:T617M;ENSP00000426154:T611M	ENSP00000221214:T494M	T	+	2	0	MAPKBP1	39897153	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.077000	0.71275	2.590000	0.87494	0.563000	0.77884	ACG		0.612	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		27	20	0	0	0	1	0	27	20					T	42109861	C	T	42109861	3	4	2	1	0	0	0	0	1	0	0	0	9301	536	19	1	1912	1	MAPKBP1	15	42109861	Missense_Mutation	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08		42109861	60421531	42	105										
NLRC3	197358	broad.mit.edu	37	chr16	3613764	3613764	+	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	ccccaccatcttgcggccacCatgggccacctgctcgatgc	9	19	1	0			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr16:3613764C>A	ENST00000301749.7	-	0	1579				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGCGGCCACCATGGGCCACC	0.587																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							45	46	46					16																	3613764		2039	4190	6229			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613764C>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613764C>A			Somatic				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA		NM_178844.2	NP_849172.2	WXS	Illumina GAIIx	Phase_I	Q7RTR2	NLRC3_HUMAN			0	1579	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	C	8.638	0.895272	0.17613	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	4.82	0.341	0.15991	.	0.220081	0.45867	D	0.000328	T	0.79540	0.4463	.	.	.	0.09310	N	1	P	0.47677	0.899	P	0.48227	0.571	T	0.70894	-0.4748	9	0.59425	D	0.04	.	6.7147	0.23296	0.0:0.448:0.0:0.552	.	439	C9JLH9	.	C	392;392;392;439;374	ENSP00000301749:G392C;ENSP00000352039:G392C;ENSP00000414415:G439C;ENSP00000323897:G374C	ENSP00000301749:G392C	G	-	1	0	NLRC3	3553765	0.001000	0.12720	0.002000	0.10522	0.226000	0.24999	0.160000	0.16462	0.220000	0.20860	-0.137000	0.14449	GGT		0.587	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		14	21	1	0	1.49906e-05	1	1.62398e-05	14	21					A	3613764	C	A	3613764	1	1	2	0	1	0	0	0	0	0	0	0	10477	594	21	5		5	NLRC3	16	3613764	RNA	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08		3613764	86740989	43	106										
TP53	7157	broad.mit.edu	37	chr17	7579718	7579718	+	Frame_Shift_Del	DEL	A	A	-													0	0	1	0	0	0	1	1	0	accagaacgttgttttcaggAagtctgaaagacaagagcag					rs397516438		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr17:7579718delA	ENST00000269305.4	-	3	267	c.78delT	c.(76-78)cttfs	p.L26fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.L26fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.L26fs	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	26	Interaction with HRMT1L2.|Transcription activation (acidic).				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.L26fs*18(1)|p.P13fs*18(1)|p.L26fs*11(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)	TGTTTTCAGGAAGTCTGAAAG	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"		11	Whole gene deletion(8)|Deletion - Frameshift(2)|Complex - frameshift(1)	p.0?(8)|p.L26fs*18(1)|p.P13fs*18(1)|p.L26fs*11(1)	bone(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|lung(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.(76-78)ctfs	Other conserved DNA damage response genes	tumor protein p53							42	42	42					17																	7579718		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.chr17:7579718delA	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.78delT	17.37:g.7579718delA	ENSP00000269305:p.Leu26fs	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_Frame_Shift_Del_p.L26fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.L26fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L26fs	p.L26fs	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)	3	210	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	26			Interaction with HRMT1L2.|Transcription activation (acidic).		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.78delT	CCDS11118.1																																																																																				0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		56	23						56	23	---	---	---	---	-	7579718	A	-	7579718	7	5	2	1	0	1	0	1	0	0	0	0	16396	233	9	0	1228	0	TP53	17	7579718	Frame_Shift_Del	DEL	A	TCGA-N5-A4RA-01A-11D-A28R-08		7579718	73615492	44	107										
POTEC	388468	broad.mit.edu	37	chr18	14543050	14543050	+	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	ccgctccccttgcagcagggGaagcggtggtgaaaccactt	13	13	0	1			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr18:14543050G>A	ENST00000358970.5	-	1	95	c.96C>T	c.(94-96)ttC>ttT	p.F32F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	32										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCAGCAGGGGAAGCGGTGGT	0.552																																						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.(94-96)ttC>ttT		POTE ankyrin domain family, member C							113	98	103					18																	14543050		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14543050G>A	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.96C>T	18.37:g.14543050G>A			Somatic				POTEC_ENST00000389891.4_5'UTR	p.F32F	NM_001137671.1	NP_001131143.1	WXS	Illumina GAIIx	Phase_I	B2RU33	POTEC_HUMAN			1	95	-			32						Silent	SNP	ENST00000358970.5	37	c.96C>T	CCDS45835.1																																																																																				0.552	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		119	114	0	0	0	1	0	119	114					A	14543050	G	A	14543050	2	1	2	1	0	0	0	0	0	0	0	1	12271	1165	41	3		3	POTEC	18	14543050	Silent	SNP	G	TCGA-N5-A4RA-01A-11D-A28R-08		14543050	63534198	45	108										
WDR7	23335	broad.mit.edu	37	chr18	54385303	54385303	+	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	catctcgtcacctttttcctAttcaagtaatcaaatggagg	6	10	4	0			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr18:54385303A>G	ENST00000254442.3	+	13	1898	c.1687A>G	c.(1687-1689)Att>Gtt	p.I563V	WDR7_ENST00000357574.3_Missense_Mutation_p.I563V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	563					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)		CCTTTTTCCTATTCAAGTAAT	0.443																																						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.(1687-1689)Att>Gtt		WD repeat domain 7							191	171	178					18																	54385303		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54385303A>G	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.1687A>G	18.37:g.54385303A>G	ENSP00000254442:p.Ile563Val		Somatic				WDR7_ENST00000357574.3_Missense_Mutation_p.I563V|WDR7_ENST00000589935.1_Intron	p.I563V	NM_015285.2	NP_056100.2	WXS	Illumina GAIIx	Phase_I	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	13	1898	+			563					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.1687A>G	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.600559	0.28534	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.51071	0.72;0.72	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.30727	0.0774	N	0.00403	-1.54	0.58432	D	0.999994	B;D	0.53151	0.22;0.958	B;D	0.70716	0.192;0.97	T	0.49916	-0.8888	10	0.02654	T	1	.	15.413	0.74943	1.0:0.0:0.0:0.0	.	563;563	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	563	ENSP00000254442:I563V;ENSP00000350187:I563V	ENSP00000254442:I563V	I	+	1	0	WDR7	52536301	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.266000	0.72540	2.127000	0.65507	0.533000	0.62120	ATT		0.443	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			36	99	0	0	0	1	0	36	99					G	54385303	A	G	54385303	3	3	2	1	0	0	0	0	1	0	0	0	17335	449	16	4	1733	4	WDR7	18	54385303	Missense_Mutation	SNP	A	TCGA-N5-A4RA-01A-11D-A28R-08	39842253	54385303	23691945	46	109										
ZNF254	9534	broad.mit.edu	37	chr19	24309473	24309473	+	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	aacctttaattggtcctcaaCccttactaatcataggaaaa	4	10	2	0			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr19:24309473C>T	ENST00000357002.4	+	4	786	c.671C>T	c.(670-672)aCc>aTc	p.T224I	ZNF254_ENST00000342944.6_Missense_Mutation_p.T139I	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	224					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T224I(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGGTCCTCAACCCTTACTAAT	0.328																																						ENST00000357002.4																			1	Substitution - Missense(1)	p.T224I(1)	lung(1)								c.(670-672)aCc>aTc		zinc finger protein 254							46	51	49					19																	24309473		2203	4290	6493	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309473C>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.671C>T	19.37:g.24309473C>T	ENSP00000349494:p.Thr224Ile		Somatic				ZNF254_ENST00000342944.6_Missense_Mutation_p.T139I	p.T224I	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	WXS	Illumina GAIIx	Phase_I	O75437	ZN254_HUMAN			4	786	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	224					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.671C>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	C	4.300	0.054855	0.08291	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.52754	0.65;0.65	1.12	-0.692	0.11301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37517	0.1006	L	0.41079	1.255	0.09310	N	1	B	0.33345	0.409	B	0.40009	0.316	T	0.35599	-0.9782	9	0.23891	T	0.37	.	6.3605	0.21425	0.0:0.6908:0.3092:0.0	.	224	O75437	ZN254_HUMAN	I	139;224;224	ENSP00000445527:T139I;ENSP00000349494:T224I	ENSP00000445527:T139I	T	+	2	0	ZNF254	24101313	0.000000	0.05858	0.444000	0.26895	0.442000	0.32017	-4.346000	0.00249	0.536000	0.28733	0.313000	0.20887	ACC		0.328	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		22	51	0	0	0	1	0	22	51					T	24309473	C	T	24309473	3	4	2	1	0	0	0	0	1	0	0	0	17813	507	18	3	685	3	ZNF254	19	24309473	Missense_Mutation	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08		24309473	34819510	47	110										
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279833	+	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	atgcagcagcagcagcagcaGcaacagcagcagcagcagca	12	13	0	0			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr20:46279833G>A	ENST00000371998.3	+	20	3950	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_ENST00000372004.3_Silent_p.Q1249Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3747)caG>caA		nuclear receptor coactivator 3							46	53	50					20																	46279833		2202	4300	6502	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759G>A	20.37:g.46279833G>A			Somatic				NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q	p.Q1249Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	WXS	Illumina GAIIx	Phase_I	Q9Y6Q9	NCOA3_HUMAN			20	3963	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3747G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		4	86	0	0	0	1	0	4	86					A	46279833	G	A	46279833	2	1	2	1	0	0	0	0	0	0	0	1	10239	962	34	3		3	NCOA3	20	46279833	Silent	SNP	G	TCGA-N5-A4RA-01A-11D-A28R-08		46279833	16745687	48	111										
ZNF831	128611	broad.mit.edu	37	chr20	57766698	57766698	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtcctcagagtccgagggCgccgggggcggcctcctgga	17	14	1	1			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr20:57766698C>A	ENST00000371030.2	+	1	624	c.624C>A	c.(622-624)ggC>ggA	p.G208G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	208							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)					AGTCCGAGGGCGCCGGGGGCG	0.677																																						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.(622-624)ggC>ggA		zinc finger protein 831							30	37	35					20																	57766698		1919	4119	6038	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766698C>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.624C>A	20.37:g.57766698C>A			Somatic					p.G208G	NM_178457.1	NP_848552.1	WXS	Illumina GAIIx	Phase_I	Q5JPB2	ZN831_HUMAN			1	624	+	all_lung(29;0.0085)		208					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.624C>A	CCDS42894.1																																																																																				0.677	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		42	131	1	0	7.05377e-20	1	8.59678e-20	42	131					A	57766698	C	A	57766698	2	1	2	1	0	0	0	0	0	0	0	1	18200	755	27	5		5	ZNF831	20	57766698	Silent	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08	11486865	57766698	5258822	49	112			1	1		2	2	27	N	G_C	4.703226e-05
ZNF831	128611	broad.mit.edu	37	chr20	57766724	57766724	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gggcggcctcctggaggaagGggacaaggccggagagcccc	19	12	0	1			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr20:57766724G>T	ENST00000371030.2	+	1	650	c.650G>T	c.(649-651)gGg>gTg	p.G217V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	217							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)					CTGGAGGAAGGGGACAAGGCC	0.687																																						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.(649-651)gGg>gTg		zinc finger protein 831							26	33	30					20																	57766724		1884	4103	5987	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766724G>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.650G>T	20.37:g.57766724G>T	ENSP00000360069:p.Gly217Val		Somatic					p.G217V	NM_178457.1	NP_848552.1	WXS	Illumina GAIIx	Phase_I	Q5JPB2	ZN831_HUMAN			1	650	+	all_lung(29;0.0085)		217					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.650G>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	9.137	1.012978	0.19277	.	.	ENSG00000124203	ENST00000371030	T	0.05717	3.4	5.17	1.91	0.25777	.	.	.	.	.	T	0.03651	0.0104	L	0.27053	0.805	0.09310	N	0.999997	B	0.34290	0.447	B	0.26094	0.066	T	0.41716	-0.9493	9	0.36615	T	0.2	-2.6229	2.9229	0.05774	0.2552:0.0:0.3942:0.3506	.	217	Q5JPB2	ZN831_HUMAN	V	217	ENSP00000360069:G217V	ENSP00000360069:G217V	G	+	2	0	ZNF831	57200119	0.001000	0.12720	0.076000	0.20297	0.275000	0.26752	0.912000	0.28597	0.558000	0.29135	0.561000	0.74099	GGG		0.687	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		32	124	1	0	4.00102e-26	1	4.95364e-26	32	124					T	57766724	G	T	57766724	3	4	2	1	0	0	0	0	1	0	0	0	18200	1232	43	5	652	5	ZNF831	20	57766724	Missense_Mutation	SNP	G	TCGA-N5-A4RA-01A-11D-A28R-08	26	57766724	5258796	50	113			1	1		2	2	27	N	G_C	4.703226e-05
TRPM2	7226	broad.mit.edu	37	chr21	45844759	45844759	+	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	cccagacagcccaagccctgCactggatcgtgaggacgctg	12	15	0	2			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr21:45844759C>T	ENST00000397928.1	+	24	4019	c.3574C>T	c.(3574-3576)Cac>Tac	p.H1192Y	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.H1192Y|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300481.9_Missense_Mutation_p.H1172Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.H1242Y	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1192					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCAAGCCCTGCACTGGATCGT	0.682																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(3574-3576)Cac>Tac		transient receptor potential cation channel, subfamily M, member 2							19	18	19					21																	45844759		2199	4294	6493	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45844759C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3574C>T	21.37:g.45844759C>T	ENSP00000381023:p.His1192Tyr		Somatic				TRPM2_ENST00000397932.2_Missense_Mutation_p.H1242Y|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.H1192Y|TRPM2_ENST00000300481.9_Missense_Mutation_p.H1172Y	p.H1192Y	NM_003307.3	NP_003298.1	WXS	Illumina GAIIx	Phase_I	O94759	TRPM2_HUMAN			24	4019	+			1192					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3574C>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	7.911	0.736558	0.15574	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.75821	1.58;1.58;1.58;-0.97	3.75	1.42	0.22433	.	0.569350	0.17928	N	0.157277	T	0.56920	0.2018	L	0.44542	1.39	0.26320	N	0.97769	P;B;B	0.39424	0.673;0.143;0.086	B;B;B	0.31614	0.133;0.037;0.023	T	0.52117	-0.8618	10	0.49607	T	0.09	-12.0427	4.4778	0.11752	0.4282:0.4449:0.0:0.1269	.	1242;978;1192	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	Y	1192;1192;1172;1242	ENSP00000300482:H1192Y;ENSP00000381023:H1192Y;ENSP00000300481:H1172Y;ENSP00000381026:H1242Y	ENSP00000300481:H1172Y	H	+	1	0	TRPM2	44669187	0.002000	0.14202	0.595000	0.28798	0.126000	0.20510	-0.353000	0.07691	0.707000	0.31934	0.543000	0.68304	CAC		0.682	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		12	8	0	0	0	1	0	12	8					T	45844759	C	T	45844759	3	4	2	1	0	0	0	0	1	0	0	0	16601	710	25	3	3668	3	TRPM2	21	45844759	Missense_Mutation	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08		45844759	2285136	51	114										
SEPT5	5413	broad.mit.edu	37	chr22	19709220	19709220	+	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	tggtggaggccaaggggcagCgggtccggggccgactgtac	20	10	0	0			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr22:19709220C>T	ENST00000455784.2	+	9	900	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Missense_Mutation_p.R259W|SEPT5_ENST00000383045.3_Missense_Mutation_p.R268W|SEPT5_ENST00000438754.2_Missense_Mutation_p.R268W	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	259	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CAAGGGGCAGCGGGTCCGGGG	0.672																																						ENST00000438754.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(802-804)Cgg>Tgg		septin 5							39	50	46					22																	19709220		2203	4299	6502	SO:0001583	missense	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19709220C>T	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"Septins"	9164	protein-coding gene	gene with protein product		602724	"peanut-like 1 (Drosophila)"	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.775C>T	22.37:g.19709220C>T	ENSP00000391311:p.Arg259Trp		Somatic				SEPT5_ENST00000383045.3_Missense_Mutation_p.R268W|SEPT5_ENST00000455784.2_Missense_Mutation_p.R259W|SEPT5_ENST00000406395.1_Missense_Mutation_p.R259W	p.R268W	NM_001009939.2	NP_001009939.1	WXS	Illumina GAIIx	Phase_I	Q99719	SEPT5_HUMAN			8	1082	+	Colorectal(54;0.0993)		259					O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	c.802C>T	CCDS13764.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726227	0.69074	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65	3.92	2.87	0.33458	.	0.000000	0.64402	D	0.000001	T	0.67664	0.2917	M	0.87097	2.86	0.53005	D	0.999967	D	0.89917	1.0	D	0.78314	0.991	T	0.69731	-0.5066	10	0.87932	D	0	.	7.7812	0.29066	0.5068:0.3578:0.1354:0.0	.	259	Q99719	SEPT5_HUMAN	W	259;259;212;297;268;268	ENSP00000391311:R259W;ENSP00000384535:R259W;ENSP00000408678:R212W;ENSP00000414488:R297W;ENSP00000372515:R268W;ENSP00000394541:R268W	ENSP00000372515:R268W	R	+	1	2	SEPT5	18089220	0.910000	0.30920	0.823000	0.32752	0.878000	0.50629	0.160000	0.16462	0.984000	0.38629	0.478000	0.44815	CGG		0.672	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		31	120	0	0	0	1	0	31	120					T	19709220	C	T	19709220	3	4	2	1	0	0	0	0	1	0	0	0	14082	759	27	1	809	1	SEPT5	22	19709220	Missense_Mutation	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08		19709220	31595346	52	115										
PLXNB2	23654	broad.mit.edu	37	chr22	50716562	50716562	+	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	ccaccttgactgagagcagcCgcgtcaggtagatctcggtg	13	12	2	3			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr22:50716562C>T	ENST00000449103.1	-	31	5011	c.4871G>A	c.(4870-4872)cGg>cAg	p.R1624Q	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R1624Q			O15031	PLXB2_HUMAN	plexin B2	1624					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)		TGAGAGCAGCCGCGTCAGGTA	0.687																																						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.(4870-4872)cGg>cAg		plexin B2							31	33	32					22																	50716562		2151	4249	6400	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50716562C>T		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.4871G>A	22.37:g.50716562C>T	ENSP00000409171:p.Arg1624Gln		Somatic				PLXNB2_ENST00000359337.4_Missense_Mutation_p.R1624Q	p.R1624Q			WXS	Illumina GAIIx	Phase_I	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	31	5011	-		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)	1624					A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.4871G>A	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392166	0.83011	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000411680	T;T;T	0.18016	2.24;2.24;2.24	4.7	4.7	0.59300	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000004	T	0.51092	0.1654	M	0.90650	3.135	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.63247	-0.6680	10	0.66056	D	0.02	.	17.9897	0.89165	0.0:1.0:0.0:0.0	.	1624	O15031	PLXB2_HUMAN	Q	1624;1624;176	ENSP00000409171:R1624Q;ENSP00000352288:R1624Q;ENSP00000400679:R176Q	ENSP00000352288:R1624Q	R	-	2	0	PLXNB2	49058689	0.910000	0.30920	0.763000	0.31416	0.286000	0.27126	7.570000	0.82390	2.302000	0.77476	0.561000	0.74099	CGG		0.687	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		28	9	0	0	0	1	0	28	9					T	50716562	C	T	50716562	3	4	2	1	0	0	0	0	1	0	0	0	12133	652	23	1	673	1	PLXNB2	22	50716562	Missense_Mutation	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08	31007342	50716562	588004	53	116										
CXorf22	170063	broad.mit.edu	37	chrX	35993823	35993823	+	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	cagtgaacaatgtacccagtGgacacatcctagtggtggca	11	10	0	1			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chrX:35993823G>A	ENST00000297866.5	+	15	2572	c.2506G>A	c.(2506-2508)Gga>Aga	p.G836R		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	836										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						TGTACCCAGTGGACACATCCT	0.388																																						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.(2506-2508)Gga>Aga		chromosome X open reading frame 22							114	99	104					X																	35993823		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35993823G>A	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.2506G>A	X.37:g.35993823G>A	ENSP00000297866:p.Gly836Arg		Somatic					p.G836R	NM_152632.3	NP_689845.2	WXS	Illumina GAIIx	Phase_I	Q6ZTR5	CX022_HUMAN			15	2572	+			836					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2506G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463672	0.43736	.	.	ENSG00000165164	ENST00000297866	T	0.14266	2.52	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	M	0.62723	1.935	0.35995	D	0.836953	D	0.89917	1.0	D	0.77557	0.99	T	0.28776	-1.0033	10	0.24483	T	0.36	-16.4194	14.9502	0.71067	0.0:0.0:1.0:0.0	.	836	Q6ZTR5	CX022_HUMAN	R	836	ENSP00000297866:G836R	ENSP00000297866:G836R	G	+	1	0	CXorf22	35903744	1.000000	0.71417	0.081000	0.20488	0.166000	0.22503	5.998000	0.70653	2.117000	0.64856	0.600000	0.82982	GGA		0.388	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		47	68	0	0	0	1	0	47	68					A	35993823	G	A	35993823	3	1	2	1	0	0	0	0	1	0	0	0	4104	1349	47	3	2564	3	CXorf22	23	35993823	Missense_Mutation	SNP	G	TCGA-N5-A4RA-01A-11D-A28R-08		35993823	119276737	54	117										
ATG4A	115201	broad.mit.edu	37	chrX	107374496	107374496	+	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	cattttgccaacaggtggaaCgggcccttcatcagatgctg	11	11	2	1	rs370004662		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chrX:107374496C>T	ENST00000372232.3	+	4	359	c.200C>T	c.(199-201)aCg>aTg	p.T67M	ATG4A_ENST00000345734.3_Missense_Mutation_p.T67M|ATG4A_ENST00000372254.3_Missense_Mutation_p.T43M|ATG4A_ENST00000545696.1_5'UTR	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	67					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						ACAGGTGGAACGGGCCCTTCA	0.473																																						ENST00000372232.3																			0				endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						c.(199-201)aCg>aTg		autophagy related 4A, cysteine peptidase		C	MET/THR,MET/THR	0,3835		0,0,1632,571	161	145	150		200,200	5.9	1	X		150	1,6727		0,1,2427,1872	no	missense,missense	ATG4A	NM_052936.3,NM_178270.2	81,81	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging	67/399,67/337	107374496	1,10562	2203	4300	6503	SO:0001583	missense	115201				autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity	g.chrX:107374496C>T	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.200C>T	X.37:g.107374496C>T	ENSP00000361306:p.Thr67Met		Somatic				ATG4A_ENST00000372254.3_Missense_Mutation_p.T43M|ATG4A_ENST00000545696.1_5'UTR|ATG4A_ENST00000345734.3_Missense_Mutation_p.T67M	p.T67M	NM_052936.3	NP_443168.2	WXS	Illumina GAIIx	Phase_I	Q8WYN0	ATG4A_HUMAN			4	359	+			67					A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Missense_Mutation	SNP	ENST00000372232.3	37	c.200C>T	CCDS14538.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.348436|4.348436	0.82132|0.82132	0.0|0.0	1.49E-4|1.49E-4	ENSG00000101844|ENSG00000101844	ENST00000394892|ENST00000372232;ENST00000345734;ENST00000372254	.|T;T;T	.|0.49720	.|0.77;0.84;0.8	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78207|0.78207	0.4247|0.4247	M|M	0.93939|0.93939	3.475|3.475	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.77557	.|0.988;0.99	D|D	0.83921|0.83921	0.0301|0.0301	5|10	.|0.87932	.|D	.|0	-8.9489|-8.9489	19.2026|19.2026	0.93717|0.93717	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|67;67	.|Q8WYN0-2;Q8WYN0	.|.;ATG4A_HUMAN	W|M	40|67;67;43	.|ENSP00000361306:T67M;ENSP00000298131:T67M;ENSP00000361328:T43M	.|ENSP00000341833:T67M	R|T	+|+	1|2	2|0	ATG4A|ATG4A	107261152|107261152	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.685000|0.685000	0.39939|0.39939	7.274000|7.274000	0.78538|0.78538	2.485000|2.485000	0.83878|0.83878	0.600000|0.600000	0.82982|0.82982	CGG|ACG		0.473	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057860.1	NM_052936		38	87	0	0	0	1	0	38	87					T	107374496	C	T	107374496	3	4	2	1	0	0	0	0	1	0	0	0	1096	536	19	1	214	1	ATG4A	23	107374496	Missense_Mutation	SNP	C	TCGA-N5-A4RA-01A-11D-A28R-08	71380673	107374496	47896064	55	118										
MAGEA6	4105	broad.mit.edu	37	chrX	151870055	151870055	+	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	ccaagaagctgctcacccaaTatttcgtgcaggaaaactac	7	12	1	1	rs140963484	byFrequency	TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chrX:151870055T>C	ENST00000329342.5	+	3	970	c.745T>C	c.(745-747)Tat>Cat	p.Y249H		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	249	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)					GCTCACCCAATATTTCGTGCA	0.547																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(745-747)Tat>Cat		melanoma antigen family A, 6		C	HIS/TYR,HIS/TYR	0,3835		0,0,0,1632,571	148	144	146		745,745	-1.2	0	X	dbSNP_134	146	12,6715		0,10,2,2418,1869	no	missense,missense	MAGEA6	NM_005363.2,NM_175868.1	83,83	0,10,2,4050,2440	CC,CT,C,TT,T		0.1784,0.0,0.1136	benign,benign	249/315,249/315	151870055	12,10550	2203	4299	6502	SO:0001583	missense	4105						protein binding	g.chrX:151870055T>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.745T>C	X.37:g.151870055T>C	ENSP00000329199:p.Tyr249His		Somatic					p.Y249H	NM_005363.2	NP_005354.1	WXS	Illumina GAIIx	Phase_I	P43360	MAGA6_HUMAN			3	970	+	Acute lymphoblastic leukemia(192;6.56e-05)		249			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.745T>C	CCDS14708.1	2	0.0012055455093429777	0	0.0	0	0.0	0	0.0	0	0.0	N	0.249	-1.007679	0.02112	0.0	0.001784	ENSG00000197172	ENST00000329342	T	0.04654	3.58	0.605	-1.21	0.09524	.	.	.	.	.	T	0.01835	0.0058	N	0.02916	-0.46	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.45848	-0.9233	7	0.66056	D	0.02	.	.	.	.	.	249	P43360	MAGA6_HUMAN	H	249	ENSP00000329199:Y249H	ENSP00000329199:Y249H	Y	+	1	0	MAGEA6	151620711	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.165000	0.09968	-2.037000	0.00920	-3.290000	0.00046	TAT		0.547	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		83	147	0	0	0	1	0	83	147					C	151870055	T	C	151870055	3	2	2	1	0	0	0	0	1	0	0	0	9179	1406	49	4	747	4	MAGEA6	23	151870055	Missense_Mutation	SNP	T	TCGA-N5-A4RA-01A-11D-A28R-08	44495559	151870055	3400505	56	119										
INADL	10207	broad.mit.edu	37	chr1	62237128	62237128	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	aaagattaaaggaaaatgatCaaatattggccattaatcac	6	5	2	2			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:62237128C>T	ENST00000371158.2	+	6	664	c.550C>T	c.(550-552)Caa>Taa	p.Q184*	INADL_ENST00000316485.6_Nonsense_Mutation_p.Q184*	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	184	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGAAAATGATCAAATATTGGC	0.308																																						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.(550-552)Caa>Taa		InaD-like (Drosophila)							96	88	91					1																	62237128		2203	4300	6503	SO:0001587	stop_gained	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62237128C>T	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.550C>T	1.37:g.62237128C>T	ENSP00000360200:p.Gln184*		Somatic				INADL_ENST00000316485.6_Nonsense_Mutation_p.Q184*	p.Q184*	NM_176877.2	NP_795352.2	WXS	Illumina GAIIx	Phase_I	Q8NI35	INADL_HUMAN			6	664	+			184			PDZ 1.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Nonsense_Mutation	SNP	ENST00000371158.2	37	c.550C>T	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	38	6.703097	0.97776	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	.	.	.	4.67	4.67	0.58626	.	0.091784	0.43919	D	0.000515	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	17.5728	0.87940	0.0:1.0:0.0:0.0	.	.	.	.	X	184	.	ENSP00000255202:Q184X	Q	+	1	0	INADL	62009716	1.000000	0.71417	0.970000	0.41538	0.827000	0.46813	7.174000	0.77620	2.151000	0.67156	0.460000	0.39030	CAA		0.308	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		8	8	0	0	0	1	0	8	8					T	62237128	C	T	62237128	4	4	3	1	0	0	0	0	0	1	0	0	7740	827	29	3	568	3	INADL	1	62237128	Nonsense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08		62237128	187013493	1	120										
SEC22B	9554	broad.mit.edu	37	chr1	145109631	145109631	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	gcactcagaatttgatgaacAgcatggaaagaaggtgccca	11	8	1	4			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:145109631A>C	ENST00000453618.1	+	0	620							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)											TTTGATGAACAGCATGGAAAG	0.438																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							613	609	610					1																	145109631		2017	4195	6212			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.chr1:145109631A>C	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.145109631A>C			Somatic								WXS	Illumina GAIIx	Phase_I	O75396	SC22B_HUMAN			0	620	+								A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																						0.438	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		47	431	0	0	0	1	0	47	431					C	145109631	A	C	145109631	1	2	3	0	1	0	0	0	0	0	0	0	14004	188	7	4		4	SEC22B	1	145109631	RNA	SNP	A	TCGA-N5-A4RD-01A-11D-A28R-08	82872503	145109631	104140990	2	121										
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858535	149858535	+	Missense_Mutation	SNP	G	G	A													0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	gatttcagtcatgtctggtcGtggcaaacaaggaggcaagg							TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:149858535G>A	ENST00000331380.2	+	1	11	c.11G>A	c.(10-12)cGt>cAt	p.R4H	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	4						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)			ATGTCTGGTCGTGGCAAACAA	0.542																																						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.(10-12)cGt>cAt		histone cluster 2, H2ac							84	91	89					1																	149858535		2203	4300	6503	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858535G>A	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.11G>A	1.37:g.149858535G>A	ENSP00000332194:p.Arg4His		Somatic					p.R4H	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	11	+	Breast(34;0.0124)|all_hematologic(923;0.127)		4					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.11G>A	CCDS937.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142085	0.37825	.	.	ENSG00000184260	ENST00000331380	T	0.44881	0.91	5.81	5.81	0.92471	Histone-fold (2);Histone H2A (1);	0.000000	0.45361	D	0.000376	T	0.63896	0.2550	M	0.89287	3.02	0.51233	D	0.999911	D	0.60160	0.987	P	0.60682	0.878	T	0.70536	-0.4845	10	0.87932	D	0	.	18.6409	0.91396	0.0:0.0:1.0:0.0	.	4	Q16777	H2A2C_HUMAN	H	4	ENSP00000332194:R4H	ENSP00000332194:R4H	R	+	2	0	HIST2H2AC	148125159	1.000000	0.71417	0.219000	0.23793	0.692000	0.40212	9.666000	0.98612	2.745000	0.94114	0.655000	0.94253	CGT		0.542	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		39	80	0	0	0	1	0	39	80					A	149858535	G	A	149858535	3	1	3	1	0	0	0	0	1	0	0	0	7187	1145	40	1	13	1	HIST2H2AC	1	149858535	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08	4748904	149858535	99392086	3	122	1	3								
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858536	149858536	+	Silent	SNP	T	T	G													0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	atttcagtcatgtctggtcgTggcaaacaaggaggcaaggc							TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:149858536T>G	ENST00000331380.2	+	1	12	c.12T>G	c.(10-12)cgT>cgG	p.R4R	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	4						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)			TGTCTGGTCGTGGCAAACAAG	0.547																																						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.(10-12)cgT>cgG		histone cluster 2, H2ac							85	92	89					1																	149858536		2203	4300	6503	SO:0001819	synonymous_variant	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858536T>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.12T>G	1.37:g.149858536T>G			Somatic					p.R4R	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	12	+	Breast(34;0.0124)|all_hematologic(923;0.127)		4					Q6DRA7|Q8IUE5	Silent	SNP	ENST00000331380.2	37	c.12T>G	CCDS937.1																																																																																				0.547	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		39	80	0	0	0	1	0	39	80					G	149858536	T	G	149858536	2	3	3	1	0	0	0	0	0	0	0	1	7187	1683	59	4		4	HIST2H2AC	1	149858536	Silent	SNP	T	TCGA-N5-A4RD-01A-11D-A28R-08	1	149858536	99392085	4	123	1	3								
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858537	149858537	+	Missense_Mutation	SNP	G	G	T													0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	tttcagtcatgtctggtcgtGgcaaacaaggaggcaaggcc							TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:149858537G>T	ENST00000331380.2	+	1	13	c.13G>T	c.(13-15)Ggc>Tgc	p.G5C	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	5						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)			GTCTGGTCGTGGCAAACAAGG	0.547																																						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.(13-15)Ggc>Tgc		histone cluster 2, H2ac							85	91	89					1																	149858537		2203	4300	6503	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858537G>T	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"Histones / Replication-dependent"	4738	protein-coding gene	gene with protein product		602797	"H2A histone family, member Q", "histone 2, H2ac"	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.13G>T	1.37:g.149858537G>T	ENSP00000332194:p.Gly5Cys		Somatic					p.G5C	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	13	+	Breast(34;0.0124)|all_hematologic(923;0.127)		5					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.13G>T	CCDS937.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945767	0.34377	.	.	ENSG00000184260	ENST00000331380	T	0.45276	0.9	5.81	5.81	0.92471	Histone-fold (2);Histone H2A (1);	0.000000	0.45126	D	0.000397	T	0.77110	0.4082	H	0.98314	4.2	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.85790	0.1367	10	0.87932	D	0	.	18.6409	0.91396	0.0:0.0:1.0:0.0	.	5	Q16777	H2A2C_HUMAN	C	5	ENSP00000332194:G5C	ENSP00000332194:G5C	G	+	1	0	HIST2H2AC	148125161	1.000000	0.71417	0.184000	0.23157	0.699000	0.40488	7.841000	0.86834	2.745000	0.94114	0.655000	0.94253	GGC		0.547	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		41	78	1	0	3.54561e-26	1	3.75417e-26	41	78					T	149858537	G	T	149858537	3	4	3	1	0	0	0	0	1	0	0	0	7187	1348	47	5	15	5	HIST2H2AC	1	149858537	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08	1	149858537	99392084	5	124	1	3								
RPRD2	23248	broad.mit.edu	37	chr1	150443187	150443187	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	tgcccaaccttttattcccaAaagcttcaactattctccta	2	14	2	0			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:150443187A>G	ENST00000369068.4	+	11	1767	c.1763A>G	c.(1762-1764)aAa>aGa	p.K588R	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.K562R|RPRD2_ENST00000401000.4_Missense_Mutation_p.K562R	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	588	Ser-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						TTTATTCCCAAAAGCTTCAAC	0.502																																						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.(1684-1686)aAa>aGa		regulation of nuclear pre-mRNA domain containing 2							69	64	66					1																	150443187		1853	4110	5963	SO:0001583	missense	23248						protein binding	g.chr1:150443187A>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.1763A>G	1.37:g.150443187A>G	ENSP00000358064:p.Lys588Arg		Somatic				RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.K588R|RPRD2_ENST00000539519.1_Missense_Mutation_p.K562R	p.K562R			WXS	Illumina GAIIx	Phase_I	Q5VT52	RPRD2_HUMAN			10	1750	+			588			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.1685A>G	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	A	17.90	3.501030	0.64298	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.50001	0.77;0.78;0.76	5.1	5.1	0.69264	.	0.122764	0.56097	D	0.000039	T	0.22704	0.0548	N	0.24115	0.695	0.32546	N	0.533036	B;B;P	0.36909	0.437;0.437;0.573	B;B;B	0.36666	0.08;0.115;0.23	T	0.25328	-1.0135	10	0.62326	D	0.03	-10.5531	15.0556	0.71910	1.0:0.0:0.0:0.0	.	562;588;562	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	R	562;562;588	ENSP00000383785:K562R;ENSP00000445482:K562R;ENSP00000358064:K588R	ENSP00000358064:K588R	K	+	2	0	RPRD2	148709811	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	4.728000	0.62000	2.141000	0.66446	0.383000	0.25322	AAA		0.502	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		14	28	0	0	0	1	0	14	28					G	150443187	A	G	150443187	3	3	3	1	0	0	0	0	1	0	0	0	13632	14	1	4	1805	4	RPRD2	1	150443187	Missense_Mutation	SNP	A	TCGA-N5-A4RD-01A-11D-A28R-08	584650	150443187	98807434	6	125										
HMCN1	83872	broad.mit.edu	37	chr1	186121933	186121933	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	gggcttggattccgatggttCtttgctgctagatatcgttg	13	7	1	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:186121933C>T	ENST00000271588.4	+	96	15177	c.14948C>T	c.(14947-14949)tCt>tTt	p.S4983F	HMCN1_ENST00000367492.2_Missense_Mutation_p.S4983F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4983	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				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						TCCGATGGTTCTTTGCTGCTA	0.428																																						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.(14947-14949)tCt>tTt		hemicentin 1							238	210	219					1																	186121933		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186121933C>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.14948C>T	1.37:g.186121933C>T	ENSP00000271588:p.Ser4983Phe		Somatic				HMCN1_ENST00000367492.2_Missense_Mutation_p.S4983F	p.S4983F	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			96	15177	+			4983			Nidogen G2 beta-barrel.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14948C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037007	0.35893	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.31510	1.49;1.49	5.9	4.05	0.47172	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.313777	0.38217	N	0.001767	T	0.22282	0.0537	N	0.19112	0.55	0.09310	N	1	B	0.33826	0.427	B	0.39617	0.305	T	0.16867	-1.0388	10	0.18710	T	0.47	.	12.1051	0.53807	0.0:0.8635:0.0:0.1365	.	4983	Q96RW7	HMCN1_HUMAN	F	4983	ENSP00000271588:S4983F;ENSP00000356462:S4983F	ENSP00000271588:S4983F	S	+	2	0	HMCN1	184388556	0.630000	0.27155	0.228000	0.23943	0.644000	0.38419	2.557000	0.45871	0.842000	0.35045	0.650000	0.86243	TCT		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		16	72	0	0	0	1	0	16	72					T	186121933	C	T	186121933	3	4	3	1	0	0	0	0	1	0	0	0	7229	913	32	3	15330	3	HMCN1	1	186121933	Missense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08	35678746	186121933	63128688	7	126										
MYT1L	23040	broad.mit.edu	37	chr2	1906908	1906908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	gcaccttgggagctatggctCgcttgccataagtatggttg	13	9	0	0	rs199822415		TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:1906908C>T	ENST00000399161.2	-	14	2723	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	MYT1L_ENST00000428368.2_Missense_Mutation_p.R657Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	659					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)		AGCTATGGCTCGCTTGCCATA	0.488																																						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.(1975-1977)cGa>cAa		myelin transcription factor 1-like							151	146	147					2																	1906908		1940	4131	6071	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1906908C>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.1976G>A	2.37:g.1906908C>T	ENSP00000382114:p.Arg659Gln		Somatic				MYT1L_ENST00000428368.2_Missense_Mutation_p.R657Q	p.R659Q	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)	14	2723	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	659					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1976G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.445847	0.96187	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.60424	0.19;0.19	5.51	5.51	0.81932	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.72137	0.3423	M	0.74389	2.26	0.80722	D	1	D;D	0.69078	0.997;0.993	P;B	0.55087	0.768;0.423	T	0.74469	-0.3655	10	0.54805	T	0.06	-21.5981	19.4196	0.94715	0.0:1.0:0.0:0.0	.	659;657	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Q	659;605;657	ENSP00000382114:R659Q;ENSP00000396103:R657Q	ENSP00000295067:R605Q	R	-	2	0	MYT1L	1885915	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.755000	0.85180	2.599000	0.87857	0.561000	0.74099	CGA		0.488	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		4	49	0	0	0	1	0	4	49					T	1906908	C	T	1906908	3	4	3	1	0	0	0	0	1	0	0	0	10116	884	31	1	1632	1	MYT1L	2	1906908	Missense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08		1906908	241292465	8	127										
SPTBN1	6711	broad.mit.edu	37	chr2	54853210	54853210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	tcgaggccgagaattaccacGacatcaagcgcatcacagcg	10	13	2	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:54853210G>A	ENST00000356805.4	+	12	1764	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N	SPTBN1_ENST00000333896.5_Missense_Mutation_p.D482N	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	495					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)			GAATTACCACGACATCAAGCG	0.577																																						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.(1444-1446)Gac>Aac		spectrin, beta, non-erythrocytic 1							117	113	114					2																	54853210		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54853210G>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.1483G>A	2.37:g.54853210G>A	ENSP00000349259:p.Asp495Asn		Somatic				SPTBN1_ENST00000356805.4_Missense_Mutation_p.D495N	p.D482N	NM_178313.2	NP_842565.2	WXS	Illumina GAIIx	Phase_I	Q01082	SPTB2_HUMAN	Lung(47;0.24)		11	1829	+			495					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.1444G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	36	5.854047	0.97030	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;T	0.48836	0.8;0.8;0.8	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.78314	0.944;0.991	T	0.76686	-0.2868	10	0.87932	D	0	.	19.5969	0.95544	0.0:0.0:1.0:0.0	.	482;495	Q01082-3;Q01082	.;SPTB2_HUMAN	N	495;495;482	ENSP00000349259:D495N;ENSP00000374630:D495N;ENSP00000334156:D482N	ENSP00000334156:D482N	D	+	1	0	SPTBN1	54706714	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.802000	0.99131	2.634000	0.89283	0.650000	0.86243	GAC		0.577	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			75	101	0	0	0	1	0	75	101					A	54853210	G	A	54853210	3	1	3	1	0	0	0	0	1	0	0	0	15134	1058	37	1	1638	1	SPTBN1	2	54853210	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08	52946302	54853210	188346163	9	128										
ASPRV1	151516	broad.mit.edu	37	chr2	70187809	70187809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	tcagtgggatagctcctgccGcccttcttctgaggaggggt	14	11	3	1	rs140244507	byFrequency	TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:70187809G>A	ENST00000320256.4	-	1	1588	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGCTCCTGCCGCCCTTCTTCT	0.557													G|||	12	0.00239617	8e-04	0	5008	,	,		19529	0		0	False		,,,				2504	0.0112					ENST00000320256.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(1012-1014)Cgg>Tgg		aspartic peptidase, retroviral-like 1		G	TRP/ARG	6,4400	11.4+/-27.6	0,6,2197	69	74	72		1012	-4.2	0	2	dbSNP_134	72	0,8600		0,0,4300	yes	missense	ASPRV1	NM_152792.2	101	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging	338/344	70187809	6,13000	2203	4300	6503	SO:0001583	missense	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70187809G>A	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"Skin ASpartic Protease"	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.1012C>T	2.37:g.70187809G>A	ENSP00000315383:p.Arg338Trp		Somatic					p.R338W	NM_152792.2	NP_690005.2	WXS	Illumina GAIIx	Phase_I	Q53RT3	APRV1_HUMAN			1	1588	-			338						Missense_Mutation	SNP	ENST00000320256.4	37	c.1012C>T	CCDS1897.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.315	0.823031	0.16678	0.001362	0.0	ENSG00000244617	ENST00000320256	T	0.52295	0.67	2.26	-4.18	0.03846	.	.	.	.	.	T	0.16727	0.0402	N	0.08118	0	0.09310	N	1	P	0.45396	0.857	B	0.30495	0.116	T	0.16512	-1.0400	9	0.62326	D	0.03	0.5109	3.4689	0.07559	0.1196:0.4992:0.2269:0.1543	.	338	Q53RT3	APRV1_HUMAN	W	338	ENSP00000315383:R338W	ENSP00000315383:R338W	R	-	1	2	ASPRV1	70041313	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.248000	0.02890	-1.245000	0.02513	-0.126000	0.14955	CGG		0.557	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		34	49	0	0	0	1	0	34	49					A	70187809	G	A	70187809	3	1	3	1	0	0	0	0	1	0	0	0	1058	1086	38	1	23	1	ASPRV1	2	70187809	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08	15334599	70187809	173011564	10	129										
IL1F9	56300	broad.mit.edu	37	chr2	113736846	113736846	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	tgatttgaatcagcaagtgtGgacccttcagggtcagaacc	11	9	3	3			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:113736846G>T	ENST00000259205.4	+	3	173	c.104G>T	c.(103-105)tGg>tTg	p.W35L	IL36G_ENST00000376489.2_Intron	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	35					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CAGCAAGTGTGGACCCTTCAG	0.448																																						ENST00000259205.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(103-105)tGg>tTg		interleukin 36, gamma							78	75	76					2																	113736846		2203	4300	6503	SO:0001583	missense	56300				cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113736846G>T	AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"Interleukins and interleukin receptors"	15741	protein-coding gene	gene with protein product	"interleukin-1 homolog 1", "interleukin 1-related protein 2", "interleukin-1 epsilon"	605542	"interleukin 1 family, member 9"	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.104G>T	2.37:g.113736846G>T	ENSP00000259205:p.Trp35Leu		Somatic				IL36G_ENST00000376489.2_Intron	p.W35L	NM_019618.2	NP_062564.1	WXS	Illumina GAIIx	Phase_I	Q9NZH8	IL36G_HUMAN			3	173	+			35					Q56B91|Q6UVX7|Q7RTZ9	Missense_Mutation	SNP	ENST00000259205.4	37	c.104G>T	CCDS2108.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504568	0.44558	.	.	ENSG00000136688	ENST00000447128;ENST00000259205	T;T	0.45668	0.89;0.89	5.09	3.15	0.36227	.	0.113850	0.40818	N	0.001010	T	0.29850	0.0746	L	0.38531	1.155	0.35523	D	0.801624	B	0.31351	0.32	B	0.37091	0.241	T	0.22347	-1.0219	10	0.02654	T	1	-12.4534	10.4094	0.44282	0.0:0.0:0.6493:0.3507	.	35	Q9NZH8	IL36G_HUMAN	L	35	ENSP00000411639:W35L;ENSP00000259205:W35L	ENSP00000259205:W35L	W	+	2	0	IL36G	113453317	1.000000	0.71417	0.994000	0.49952	0.210000	0.24377	2.481000	0.45215	1.325000	0.45301	0.655000	0.94253	TGG		0.448	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330713.2	NM_019618		18	33	1	0	8.34094e-07	1	8.43465e-07	18	33					T	113736846	G	T	113736846	3	4	3	1	0	0	0	0	1	0	0	0	7666	1357	47	5	110	5	IL1F9	2	113736846	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08	43549037	113736846	129462527	11	130										
C1QL2	165257	broad.mit.edu	37	chr2	119914536	119914536	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	gtagttctggtcggcgtcctGtgcaatggcgctggcccgga	16	11	1	0			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:119914536G>T	ENST00000272520.3	-	2	1325	c.706C>A	c.(706-708)Cag>Aag	p.Q236K		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	236	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						TCGGCGTCCTGTGCAATGGCG	0.642										HNSCC(49;0.14)																												ENST00000272520.3																			0				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						c.(706-708)Cag>Aag		complement component 1, q subcomponent-like 2							137	143	141					2																	119914536		2203	4300	6503	SO:0001583	missense	165257					collagen		g.chr2:119914536G>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.706C>A	2.37:g.119914536G>T	ENSP00000272520:p.Gln236Lys	HNSCC(49;0.14)	Somatic					p.Q236K	NM_182528.3	NP_872334.2	WXS	Illumina GAIIx	Phase_I	Q7Z5L3	C1QL2_HUMAN			2	1325	-			236			C1q.			Missense_Mutation	SNP	ENST00000272520.3	37	c.706C>A	CCDS42737.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883053	0.91740	.	.	ENSG00000144119	ENST00000272520	T	0.75050	-0.9	4.95	4.95	0.65309	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	D	0.000002	T	0.77157	0.4089	L	0.60067	1.865	0.80722	D	1	P	0.41597	0.756	P	0.46885	0.53	T	0.76498	-0.2937	9	.	.	.	.	17.1927	0.86885	0.0:0.0:1.0:0.0	.	236	Q7Z5L3	C1QL2_HUMAN	K	236	ENSP00000272520:Q236K	.	Q	-	1	0	C1QL2	119631006	1.000000	0.71417	0.966000	0.40874	0.985000	0.73830	9.860000	0.99555	2.283000	0.76528	0.561000	0.74099	CAG		0.642	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528		70	81	1	0	1.50372e-20	1	1.57366e-20	70	81					T	119914536	G	T	119914536	3	4	3	1	0	0	0	0	1	0	0	0	1961	1386	48	5	161	5	C1QL2	2	119914536	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08	6177690	119914536	123284837	12	131										
PHF7	51533	broad.mit.edu	37	chr3	52454935	52454935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	acagatcattttgtgacaaaCatcgcccaacacagaacatc	5	12	1	3			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:52454935C>T	ENST00000327906.3	+	7	1090	c.430C>T	c.(430-432)Cat>Tat	p.H144Y	PHF7_ENST00000347025.2_Missense_Mutation_p.H144Y	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	144						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TTGTGACAAACATCGCCCAAC	0.488																																						ENST00000327906.3																			0				breast(2)|large_intestine(4)|lung(3)	9						c.(430-432)Cat>Tat		PHD finger protein 7							142	130	134					3																	52454935		2203	4300	6503	SO:0001583	missense	51533					nucleus	zinc ion binding	g.chr3:52454935C>T	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.430C>T	3.37:g.52454935C>T	ENSP00000333024:p.His144Tyr		Somatic				PHF7_ENST00000478707.1_Missense_Mutation_p.H144Y|PHF7_ENST00000347025.2_Missense_Mutation_p.H144Y	p.H144Y	NM_016483.4	NP_057567.3	WXS	Illumina GAIIx	Phase_I	Q9BWX1	PHF7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)	7	1090	+			144					K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.430C>T	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640653	0.67244	.	.	ENSG00000010318	ENST00000478707;ENST00000327906;ENST00000347025;ENST00000394916	D;D;D	0.85861	-2.04;-2.04;-2.04	5.8	5.8	0.92144	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93772	0.8009	M	0.91818	3.245	0.38529	D	0.948934	D;D	0.69078	0.997;0.997	D;D	0.79108	0.992;0.992	D	0.95375	0.8468	10	0.87932	D	0	-25.3509	15.5574	0.76208	0.0:1.0:0.0:0.0	.	144;144	A8K856;Q9BWX1	.;PHF7_HUMAN	Y	144;144;144;52	ENSP00000419316:H144Y;ENSP00000333024:H144Y;ENSP00000246282:H144Y	ENSP00000333024:H144Y	H	+	1	0	PHF7	52429975	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	3.545000	0.53648	2.741000	0.93983	0.561000	0.74099	CAT		0.488	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		46	10	0	0	0	1	0	46	10					T	52454935	C	T	52454935	3	4	3	1	0	0	0	0	1	0	0	0	11848	478	17	3	452	3	PHF7	3	52454935	Missense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08		52454935	145567495	13	132										
PTPRG	5793	broad.mit.edu	37	chr3	62259445	62259445	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	agactgaagtatcttcaaatCagctgcacagctatgttaac	7	9	3	2			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:62259445C>T	ENST00000474889.1	+	23	3768	c.3391C>T	c.(3391-3393)Cag>Tag	p.Q1131*	PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Nonsense_Mutation_p.Q1102*|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1131					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)		ATCTTCAAATCAGCTGCACAG	0.413																																						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.(3391-3393)Cag>Tag		protein tyrosine phosphatase, receptor type, G							161	151	154					3																	62259445		2203	4300	6503	SO:0001587	stop_gained	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62259445C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3391C>T	3.37:g.62259445C>T	ENSP00000418112:p.Gln1131*		Somatic				PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Nonsense_Mutation_p.Q1102*|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA	p.Q1131*	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)	23	3768	+			1131					B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Nonsense_Mutation	SNP	ENST00000474889.1	37	c.3391C>T	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	46	12.154864	0.99641	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	.	.	.	X	1131;1102	.	ENSP00000295874:Q1102X	Q	+	1	0	PTPRG	62234485	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.970000	0.70431	2.879000	0.98667	0.650000	0.86243	CAG		0.413	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		27	9	0	0	0	1	0	27	9					T	62259445	C	T	62259445	4	4	3	1	0	0	0	0	0	1	0	0	12817	827	29	3	3481	3	PTPRG	3	62259445	Nonsense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08	9804510	62259445	135762985	14	133										
EPHB1	2047	broad.mit.edu	37	chr3	134670683	134670683	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	ttcttcaaaaagtgtcccagCattgtgcaaaattttgcagt	7	8	2	0			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:134670683C>A	ENST00000398015.3	+	3	964	c.594C>A	c.(592-594)agC>agA	p.S198R	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	198	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGTGTCCCAGCATTGTGCAAA	0.483																																						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.(592-594)agC>agA		EPH receptor B1							205	196	199					3																	134670683		1931	4139	6070	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670683C>A	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.594C>A	3.37:g.134670683C>A	ENSP00000381097:p.Ser198Arg		Somatic				EPHB1_ENST00000488154.1_Intron	p.S198R	NM_004441.4	NP_004432.1	WXS	Illumina GAIIx	Phase_I	P54762	EPHB1_HUMAN			3	964	+			198			Cys-rich.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.594C>A	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	6.441	0.449551	0.12223	.	.	ENSG00000154928	ENST00000398015	T	0.73681	-0.77	5.36	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	N	0.17723	0.515	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.70539	-0.4844	9	.	.	.	.	8.5999	0.33738	0.0:0.7695:0.0:0.2305	.	198	P54762	EPHB1_HUMAN	R	198	ENSP00000381097:S198R	.	S	+	3	2	EPHB1	136153373	0.813000	0.29090	1.000000	0.80357	0.998000	0.95712	-0.013000	0.12678	1.253000	0.44018	0.561000	0.74099	AGC		0.483	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		71	77	1	0	4.83677e-39	1	5.18226e-39	71	77					A	134670683	C	A	134670683	3	1	3	1	0	0	0	0	1	0	0	0	5176	709	25	5	604	5	EPHB1	3	134670683	Missense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08	72411238	134670683	63351747	15	134										
TRPC1	7220	broad.mit.edu	37	chr3	142523431	142523431	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	tcagtaagtggatttgctctCatacatcaaaaggcaaggtc	9	8	3	0			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:142523431C>T	ENST00000476941.1	+	12	2599	c.2113C>T	c.(2113-2115)Cat>Tat	p.H705Y	TRPC1_ENST00000273482.6_Missense_Mutation_p.H671Y	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	705					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GATTTGCTCTCATACATCAAA	0.363																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(2011-2013)Cat>Tat		transient receptor potential cation channel, subfamily C, member 1							98	94	95					3																	142523431		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142523431C>T	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.2113C>T	3.37:g.142523431C>T	ENSP00000419313:p.His705Tyr		Somatic				TRPC1_ENST00000476941.1_Missense_Mutation_p.H705Y	p.H671Y	NM_003304.4	NP_003295.1	WXS	Illumina GAIIx	Phase_I	P48995	TRPC1_HUMAN			11	2402	+			705					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.2011C>T	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527545	0.85706	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.79845	-1.31;-1.31	4.83	4.83	0.62350	.	0.198269	0.52532	D	0.000064	D	0.82435	0.5036	L	0.43923	1.385	0.80722	D	1	P;P	0.45126	0.851;0.599	P;P	0.58391	0.838;0.503	T	0.76572	-0.2910	10	0.02654	T	1	-1.5063	18.2826	0.90103	0.0:1.0:0.0:0.0	.	705;671	P48995;P48995-2	TRPC1_HUMAN;.	Y	705;671	ENSP00000419313:H705Y;ENSP00000273482:H671Y	ENSP00000273482:H671Y	H	+	1	0	TRPC1	144006121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.760000	0.85248	2.375000	0.81037	0.650000	0.86243	CAT		0.363	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		11	60	0	0	0	1	0	11	60					T	142523431	C	T	142523431	3	4	3	1	0	0	0	0	1	0	0	0	16593	826	29	3	2053	3	TRPC1	3	142523431	Missense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08	7852748	142523431	55498999	16	135										
NLGN1	22871	broad.mit.edu	37	chr3	173998971	173998971	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	cacccaacaccattacaatgAttcccaacactataccaggg	4	15	0	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:173998971A>T	ENST00000457714.1	+	7	2779	c.2350A>T	c.(2350-2352)Att>Ttt	p.I784F	NLGN1_ENST00000545397.1_Missense_Mutation_p.I784F|NLGN1_ENST00000361589.4_Missense_Mutation_p.I784F|NLGN1_ENST00000401917.3_Missense_Mutation_p.I824F	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	801					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CATTACAATGATTCCCAACAC	0.493																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2350-2352)Att>Ttt		neuroligin 1							185	168	174					3																	173998971		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998971A>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2350A>T	3.37:g.173998971A>T	ENSP00000392500:p.Ile784Phe		Somatic				NLGN1_ENST00000401917.3_Missense_Mutation_p.I824F|NLGN1_ENST00000361589.4_Missense_Mutation_p.I784F|NLGN1_ENST00000545397.1_Missense_Mutation_p.I784F	p.I784F	NM_014932.2	NP_055747.1	WXS	Illumina GAIIx	Phase_I	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2779	+	Ovarian(172;0.0025)		801					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.2350A>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.223470	0.58668	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.70399	-0.47;-0.47;-0.47;-0.48	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.83899	0.5354	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.85926	0.1449	10	0.87932	D	0	.	16.0773	0.80976	1.0:0.0:0.0:0.0	.	784	Q8N2Q7-2	.	F	784;784;784;824	ENSP00000392500:I784F;ENSP00000354541:I784F;ENSP00000441108:I784F;ENSP00000385750:I824F	ENSP00000354541:I784F	I	+	1	0	NLGN1	175481665	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.254000	0.74563	0.482000	0.46254	ATT		0.493	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		10	77	0	0	0	1	0	10	77					T	173998971	A	T	173998971	3	4	3	1	0	0	0	0	1	0	0	0	10470	333	12	4	2368	4	NLGN1	3	173998971	Missense_Mutation	SNP	A	TCGA-N5-A4RD-01A-11D-A28R-08	31475540	173998971	24023459	17	136										
LSG1	55341	broad.mit.edu	37	chr3	194386954	194386954	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	gacaagctgacgtctccattCtagaaagttatctttctctg	7	10	4	2			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:194386954C>G	ENST00000265245.5	-	4	726	c.412G>C	c.(412-414)Gaa>Caa	p.E138Q	AC046143.1_ENST00000408791.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	138					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)		CGTCTCCATTCTAGAAAGTTA	0.373																																						ENST00000265245.5																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16						c.(412-414)Gaa>Caa		large 60S subunit nuclear export GTPase 1							126	117	120					3																	194386954		2203	4300	6503	SO:0001583	missense	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194386954C>G		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.412G>C	3.37:g.194386954C>G	ENSP00000265245:p.Glu138Gln		Somatic					p.E138Q	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)	4	726	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		138					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	37	c.412G>C	CCDS33922.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083777	0.36758	.	.	ENSG00000041802	ENST00000265245	T	0.48522	0.81	5.78	3.76	0.43208	.	0.362209	0.30752	N	0.008945	T	0.38241	0.1033	L	0.42581	1.335	0.29818	N	0.831096	B	0.22346	0.068	B	0.31245	0.126	T	0.33803	-0.9854	10	0.38643	T	0.18	.	5.7247	0.18006	0.0:0.4966:0.3805:0.1229	.	138	Q9H089	LSG1_HUMAN	Q	138	ENSP00000265245:E138Q	ENSP00000265245:E138Q	E	-	1	0	LSG1	195868243	0.987000	0.35691	0.998000	0.56505	0.996000	0.88848	1.340000	0.33896	1.263000	0.44181	0.655000	0.94253	GAA		0.373	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		13	36	0	0	0	1	0	13	36					G	194386954	C	G	194386954	3	3	3	1	0	0	0	0	1	0	0	0	9058	922	32	2	1608	2	LSG1	3	194386954	Missense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08	20387983	194386954	3635476	18	137										
LDB2	9079	broad.mit.edu	37	chr4	16900019	16900019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	ttgttcatctcatagattcgGtactctggctgtaccatgta	8	9	3	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr4:16900019G>A	ENST00000304523.5	-	1	413	c.90C>T	c.(88-90)taC>taT	p.Y30Y	LDB2_ENST00000502640.1_Silent_p.Y30Y|LDB2_ENST00000515064.1_Silent_p.Y30Y|LDB2_ENST00000441778.2_Silent_p.Y30Y	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	30					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CATAGATTCGGTACTCTGGCT	0.453																																						ENST00000502640.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						c.(88-90)taC>taT		LIM domain binding 2							204	180	188					4																	16900019		2203	4300	6503	SO:0001819	synonymous_variant	9079						LIM domain binding|transcription cofactor activity	g.chr4:16900019G>A	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.90C>T	4.37:g.16900019G>A			Somatic				LDB2_ENST00000304523.5_Silent_p.Y30Y|LDB2_ENST00000515064.1_Silent_p.Y30Y|LDB2_ENST00000441778.2_Silent_p.Y30Y	p.Y30Y			WXS	Illumina GAIIx	Phase_I	O43679	LDB2_HUMAN			1	238	-			30					O60619|O75480	Silent	SNP	ENST00000304523.5	37	c.90C>T	CCDS3420.1																																																																																				0.453	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			5	35	0	0	0	1	0	5	35					A	16900019	G	A	16900019	2	1	3	1	0	0	0	0	0	0	0	1	8705	1256	44	3		3	LDB2	4	16900019	Silent	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08		16900019	174254257	19	138										
FBXW7	55294	broad.mit.edu	37	chr4	153249384	153249384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	tttcatgaagatgcatacaaCgcacagtggaagtatgccca	9	9	1	2			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr4:153249384C>T	ENST00000281708.4	-	9	2623	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	FBXW7_ENST00000393956.3_Missense_Mutation_p.R289H|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465H|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385H|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465H|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347H	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCATACAACGCACAGTGGA	0.408			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		114	Substitution - Missense(113)|Unknown(1)	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)	haematopoietic_and_lymphoid_tissue(40)|large_intestine(39)|endometrium(24)|lung(5)|ovary(4)|cervix(1)|biliary_tract(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1393-1395)cGt>cAt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							253	218	230					4																	153249384		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249384C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1394G>A	4.37:g.153249384C>T	ENSP00000281708:p.Arg465His		Somatic				FBXW7_ENST00000603841.1_Missense_Mutation_p.R465H|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347H|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289H|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385H|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465H	p.R465H	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			9	2623	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	465		R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1394G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178201	0.94846	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.05	6.05	0.98169	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	0.63827	0.2544	L	0.56124	1.755	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	0.62469	-0.6848	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:1.0:0.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	H	465;347;385;289	ENSP00000281708:R465H;ENSP00000296555:R347H;ENSP00000263981:R385H;ENSP00000377528:R289H	ENSP00000263981:R385H	R	-	2	0	FBXW7	153468834	1.000000	0.71417	0.960000	0.40013	0.996000	0.88848	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CGT		0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			16	48	0	0	0	1	0	16	48					T	153249384	C	T	153249384	3	4	3	1	0	0	0	0	1	0	0	0	5777	536	19	1	745	1	FBXW7	4	153249384	Missense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08	136349365	153249384	37904892	20	139										
TRIM2	23321	broad.mit.edu	37	chr4	154237041	154237042	+	In_Frame_Ins	INS	-	-	GGCAGCTGC													0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	catacggggacgctctccggINSggcagctgcagcggcccaca							TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr4:154237041_154237042insGGCAGCTGC	ENST00000437508.2	+	8	1792_1793	c.1591_1592insGGCAGCTGC	c.(1591-1593)ggg>gGGCAGCTGCgg	p.531_532insQLR	TRIM2_ENST00000338700.5_In_Frame_Ins_p.558_559insQLR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	531					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		ACGCTCTCCGGGGCAGCTGCAG	0.47																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(1672-1674)gca>GGCAGCTGCgca		tripartite motif containing 2																																				SO:0001652	inframe_insertion	23321					cytoplasm	zinc ion binding	g.chr4:154237041_154237042insGGCAGCTGC	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15974	protein-coding gene	gene with protein product		614141	"tripartite motif-containing 2"			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1592_1600dupGGCAGCTGC	4.37:g.154237042_154237050dupGGCAGCTGC	ENSP00000415812:p.Gly531_Gln532insGlnLeuArg		Somatic				TRIM2_ENST00000437508.2_In_Frame_Ins_p.530_531insGSC	p.557_558insGSC	NM_015271.3	NP_056086.2	WXS	Illumina GAIIx	Phase_I	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	8	1737_1738	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	530					D3DP09|O60272|Q9BSI9|Q9UFZ1	In_Frame_Ins	INS	ENST00000437508.2	37	c.1672_1673insGGCAGCTGC	CCDS47147.1																																																																																				0.47	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			11	49						11	49	---	---	---	---	GGCAGCTGC	154237042	-	GGCAGCTGC	154237041	7	5	3	1	0	1	1	0	0	0	0	0	16509	1232	43	0	1702	0	TRIM2	4	154237041	In_Frame_Ins	INS	-	TCGA-N5-A4RD-01A-11D-A28R-08	987657	154237041	36917235	21	140										
SNX25	83891	broad.mit.edu	37	chr4	186263243	186263243	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	cccagaaggctcagcgagttTcagaatttacaccggaaact	9	11	2	2			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr4:186263243T>C	ENST00000504273.1	+	12	1962	c.1668T>C	c.(1666-1668)ttT>ttC	p.F556F	SNX25_ENST00000264694.8_Silent_p.F556F|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	556	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)		TCAGCGAGTTTCAGAATTTAC	0.413																																						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.(1666-1668)ttT>ttC		sorting nexin 25							134	136	135					4																	186263243		2203	4300	6503	SO:0001819	synonymous_variant	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186263243T>C	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.1668T>C	4.37:g.186263243T>C			Somatic				SNX25_ENST00000264694.8_Silent_p.F556F|SNX25_ENST00000512853.1_3'UTR	p.F556F			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)	12	1962	+		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)	556			PX.		Q3ZT30|Q8N6K3	Silent	SNP	ENST00000504273.1	37	c.1668T>C	CCDS34116.1																																																																																				0.413	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		5	74	0	0	0	1	0	5	74					C	186263243	T	C	186263243	2	2	3	1	0	0	0	0	0	0	0	1	14911	1780	62	4		4	SNX25	4	186263243	Silent	SNP	T	TCGA-N5-A4RD-01A-11D-A28R-08	32026202	186263243	4891033	22	141										
PIK3R1	5295	broad.mit.edu	37	chr5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	attgtttttacaggaaagggGgaaataacaaattaatcaaa	8	3	1	0			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:67589138G>A	ENST00000521381.1	+	10	1742	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	376	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.G376R(5)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		7	Substitution - Missense(5)|Whole gene deletion(1)|Unknown(1)	p.G376R(5)|p.0?(1)|p.?(1)	central_nervous_system(5)|large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1126-1128)Gga>Aga		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						52	58	56					5																	67589138		2189	4295	6484	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589138G>A	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1126G>A	5.37:g.67589138G>A	ENSP00000428056:p.Gly376Arg	TCGA GBM(4;<1E-08)	Somatic				PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R	p.G376R	NM_181523.2	NP_852664.1	WXS	Illumina GAIIx	Phase_I	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1742	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	376			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1126G>A	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990536	0.93106	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;D;T;T;T;T;T	0.96716	-0.18;-0.18;-0.18;-0.18;-4.1;-0.18;-0.18;-0.18;-0.18;-0.18	5.2	5.2	0.72013	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.98655	1.0681	10	0.87932	D	0	-27.7511	19.2944	0.94117	0.0:0.0:1.0:0.0	.	46;106;76;376	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	R	376;376;376;376;106;76;13;106;49;13	ENSP00000428056:G376R;ENSP00000429277:G376R;ENSP00000379855:G376R;ENSP00000274335:G376R;ENSP00000430126:G106R;ENSP00000323512:G76R;ENSP00000431058:G13R;ENSP00000338554:G106R;ENSP00000429156:G49R;ENSP00000430098:G13R	ENSP00000274335:G376R	G	+	1	0	PIK3R1	67624894	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.601000	0.98297	2.868000	0.98415	0.555000	0.69702	GGA		0.308	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		13	19	0	0	0	1	0	13	19					A	67589138	G	A	67589138	3	1	3	1	0	0	0	0	1	0	0	0	11927	1233	43	3	1290	3	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08		67589138	113326122	23	142										
PIK3R1	5295	broad.mit.edu	37	chr5	67592085	67592086	+	Frame_Shift_Ins	INS	-	-	T													0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	agcagcaaccgaaacaaagcINStgaaaacctgttgcgaggga							TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:67592085_67592086insT	ENST00000521381.1	+	15	2517_2518	c.1901_1902insT	c.(1900-1905)gctgaafs	p.E635fs	PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.E635fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.E643fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.E635fs|PIK3R1_ENST00000320694.8_Frame_Shift_Ins_p.E335fs|PIK3R1_ENST00000336483.5_Frame_Shift_Ins_p.E365fs|PIK3R1_ENST00000523872.1_Frame_Shift_Ins_p.E272fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	635	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CGAAACAAAGCTGAAAACCTGT	0.485			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1900-1902)ggafs		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001589	frameshift_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67592085_67592086insT	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1902dupT	5.37:g.67592086_67592086dupT	ENSP00000428056:p.Glu635fs	TCGA GBM(4;<1E-08)	Somatic				PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.G634fs|PIK3R1_ENST00000320694.8_Frame_Shift_Ins_p.G334fs|PIK3R1_ENST00000523872.1_Frame_Shift_Ins_p.G271fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.G642fs|PIK3R1_ENST00000336483.5_Frame_Shift_Ins_p.G364fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.G634fs	p.G634fs	NM_181523.2	NP_852664.1	WXS	Illumina GAIIx	Phase_I	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	15	2517_2518	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	634			SH2 2.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Ins	INS	ENST00000521381.1	37	c.1901_1902insT	CCDS3993.1																																																																																				0.485	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		45	40						45	40	---	---	---	---	T	67592086	-	T	67592085	7	5	3	1	0	1	1	0	0	0	0	0	11927	797	28	0	2085	0	PIK3R1	5	67592085	Frame_Shift_Ins	INS	-	TCGA-N5-A4RD-01A-11D-A28R-08	2947	67592085	113323175	24	143										
PCDHA10	56139	broad.mit.edu	37	chr5	140237391	140237391	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	gtgctgcggtcggtggttgcGggtcacgtggtggctaaggt	20	7	1	0			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:140237391G>A	ENST00000307360.5	+	1	1758	c.1758G>A	c.(1756-1758)gcG>gcA	p.A586A	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	586					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			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)			CGGTGGTTGCGGGTCACGTGG	0.662																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1756-1758)gcG>gcA									91	86	88					5																	140237391		1322	2291	3613	SO:0001819	synonymous_variant	0							g.chr5:140237391G>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.1758G>A	5.37:g.140237391G>A			Somatic				PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron	p.A586A	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1758	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1758G>A	CCDS54921.1																																																																																				0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		61	53	0	0	0	1	0	61	53					A	140237391	G	A	140237391	2	1	3	1	0	0	0	0	0	0	0	1	11529	1103	39	1		1	PCDHA10	5	140237391	Silent	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08	72645306	140237391	40677869	25	144										
EBF1	1879	broad.mit.edu	37	chr5	158140122	158140122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	gggaacactgtacagggcctCggcaatgtcggccgctctct	13	13	1	0			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:158140122C>T	ENST00000313708.6	-	13	1507	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	EBF1_ENST00000517373.1_Missense_Mutation_p.E401K|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.E378K	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	409					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACAGGGCCTCGGCAATGTCG	0.522			T	HMGA2	lipoma																																	ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1225-1227)Gag>Aag		early B-cell factor 1							95	79	84					5																	158140122		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158140122C>T	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1225G>A	5.37:g.158140122C>T	ENSP00000322898:p.Glu409Lys		Somatic				EBF1_ENST00000380654.4_Missense_Mutation_p.E378K|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.E401K	p.E409K	NM_024007.3	NP_076870.1	WXS	Illumina GAIIx	Phase_I	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	1507	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	409					Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.1225G>A	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	C	35	5.554302	0.96501	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.43688	0.94;0.94;0.94	5.91	5.91	0.95273	.	0.053759	0.64402	D	0.000001	T	0.65471	0.2694	M	0.81497	2.545	0.58432	D	0.999999	D;D;D;D	0.62365	0.973;0.989;0.991;0.99	B;P;P;P	0.61722	0.153;0.893;0.672;0.642	T	0.60885	-0.7174	10	0.30078	T	0.28	-7.0788	20.2985	0.98592	0.0:1.0:0.0:0.0	.	409;396;409;378	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	K	409;409;378;401	ENSP00000322898:E409K;ENSP00000370029:E378K;ENSP00000428020:E401K	ENSP00000322898:E409K	E	-	1	0	EBF1	158072700	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GAG		0.522	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		7	34	0	0	0	1	0	7	34					T	158140122	C	T	158140122	3	4	3	1	0	0	0	0	1	0	0	0	4882	893	31	1	566	1	EBF1	5	158140122	Missense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08	17902731	158140122	22775138	26	145										
CNOT6	57472	broad.mit.edu	37	chr5	179998267	179998268	+	Frame_Shift_Del	DEL	AA	AA	-													0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	agcacaggtggagtagaaacAaatcacaaagactttaagga							TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:179998267_179998268delAA	ENST00000393356.1	+	13	1720_1721	c.1296_1297delAA	c.(1294-1299)acaaatfs	p.N433fs	CNOT6_ENST00000261951.4_Frame_Shift_Del_p.N433fs			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	433	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GAGTAGAAACAAATCACAAAGA	0.332																																						ENST00000393356.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23						c.(1294-1299)acatfs		CCR4-NOT transcription complex, subunit 6																																				SO:0001589	frameshift_variant	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:179998267_179998268delAA	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1296_1297delAA	5.37:g.179998267_179998268delAA	ENSP00000377024:p.Asn433fs		Somatic				CNOT6_ENST00000261951.4_Frame_Shift_Del_p.TN432fs	p.TN432fs			WXS	Illumina GAIIx	Phase_I	Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	13	1720_1721	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	432					A7MD46|D3DWR0	Frame_Shift_Del	DEL	ENST00000393356.1	37	c.1296_1297delAA	CCDS4455.1																																																																																				0.332	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		25	23						25	23	---	---	---	---	-	179998268	AA	-	179998267	7	5	3	1	0	1	0	1	0	0	0	0	3624	117	5	0	1334	0	CNOT6	5	179998267	Frame_Shift_Del	DEL	AA	TCGA-N5-A4RD-01A-11D-A28R-08	21858145	179998267	916993	27	146										
HIST1H3E	8353	broad.mit.edu	37	chr6	26225539	26225539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	ccgtggctctgcgcgagatcCgtcgctaccagaagtctacc	11	15	2	2			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:26225539C>T	ENST00000360408.1	+	1	157	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	53					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GCGCGAGATCCGTCGCTACCA	0.627																																						ENST00000360408.1																			0				endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8						c.(157-159)Cgt>Tgt		histone cluster 1, H3e							55	55	55					6																	26225539		2203	4300	6503	SO:0001583	missense	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225539C>T	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"Histones / Replication-dependent"	4769	protein-coding gene	gene with protein product		602813	"H3 histone family, member D", "histone 1, H3e"	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.157C>T	6.37:g.26225539C>T	ENSP00000353581:p.Arg53Cys		Somatic					p.R53C	NM_003532.2	NP_003523.1	WXS	Illumina GAIIx	Phase_I	P68431	H31_HUMAN			1	157	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	53					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000360408.1	37	c.157C>T	CCDS4596.1	.	.	.	.	.	.	.	.	.	.	.	12.33	1.904313	0.33628	.	.	ENSG00000196966	ENST00000360408	T	0.53857	0.6	4.54	3.66	0.41972	.	.	.	.	.	T	0.55878	0.1948	.	.	.	0.46564	D	0.9991	.	.	.	.	.	.	T	0.62982	-0.6738	6	0.66056	D	0.02	.	13.5699	0.61841	0.1562:0.8438:0.0:0.0	.	.	.	.	C	53	ENSP00000353581:R53C	ENSP00000353581:R53C	R	+	1	0	HIST1H3E	26333518	1.000000	0.71417	0.998000	0.56505	0.008000	0.06430	5.764000	0.68826	1.269000	0.44280	0.491000	0.48974	CGT		0.627	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		49	60	0	0	0	1	0	49	60					T	26225539	C	T	26225539	3	4	3	1	0	0	0	0	1	0	0	0	7168	652	23	1	159	1	HIST1H3E	6	26225539	Missense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08		26225539	144889528	28	147										
LY6G5B	58496	broad.mit.edu	37	chr6	31639652	31639652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	ctccctcagatgtcaaggttCgcttcatcgttcgaggctgt	10	12	3	1	rs563595765	byFrequency	TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:31639652C>T	ENST00000375864.4	+	3	983	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	LY6G5B_ENST00000409525.1_Missense_Mutation_p.R12C|CSNK2B-LY6G5B-1181_ENST00000375880.2_3'UTR	NM_021221.2	NP_067044.2	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex, locus G5B	67	UPAR/Ly6.					extracellular region (GO:0005576)				lung(4)	4						TGTCAAGGTTCGCTTCATCGT	0.507													c|||	2	0.000399361	0	0.0029	5008	,	,		19776	0		0	False		,,,				2504	0					ENST00000375864.4																			0				lung(4)	4						c.(199-201)Cgc>Tgc		lymphocyte antigen 6 complex, locus G5B							185	153	165					6																	31639652		1511	2709	4220	SO:0001583	missense	58496					extracellular region		g.chr6:31639652C>T	AF129756	CCDS34400.1	6p21.3	2008-08-01	2002-07-29	2002-08-01	ENSG00000240053	ENSG00000240053			13931	protein-coding gene	gene with protein product		610433	"chromosome 6 open reading frame 19"	C6orf19		8812450, 12079290, 17008713	Standard	NM_021221		Approved	G5b		Q8NDX9	OTTHUMG00000031227	ENST00000375864.4:c.199C>T	6.37:g.31639652C>T	ENSP00000365024:p.Arg67Cys		Somatic				LY6G5B_ENST00000409525.1_Missense_Mutation_p.R12C|CSNK2B-LY6G5B-1181_ENST00000375880.2_3'UTR	p.R67C	NM_021221.2	NP_067044.2	WXS	Illumina GAIIx	Phase_I	Q8NDX9	LY65B_HUMAN			3	983	+			67			UPAR/Ly6.		B0UXB2|B0UZ65|B0UZP8|B7ZCA3|Q5SQ62|Q5SST3|Q9UKT0|Q9UMQ0	Missense_Mutation	SNP	ENST00000375864.4	37	c.199C>T	CCDS34400.1	.	.	.	.	.	.	.	.	.	.	c	13.02	2.111271	0.37242	.	.	ENSG00000240053	ENST00000409691;ENST00000375864;ENST00000409525	T;T	0.24151	1.87;1.87	4.44	1.38	0.22167	.	.	.	.	.	T	0.18002	0.0432	L	0.32530	0.975	.	.	.	D	0.89917	1.0	D	0.72338	0.977	T	0.08207	-1.0733	8	0.87932	D	0	-12.4942	2.693	0.05126	0.1897:0.523:0.1841:0.1031	.	67	Q8NDX9	LY65B_HUMAN	C	64;67;12	ENSP00000365024:R67C;ENSP00000386365:R12C	ENSP00000365024:R67C	R	+	1	0	LY6G5B	31747631	0.119000	0.22226	0.602000	0.28890	0.440000	0.31957	0.273000	0.18662	0.585000	0.29608	-0.215000	0.12644	CGC		0.507	LY6G5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000124389.4			31	45	0	0	0	1	0	31	45					T	31639652	C	T	31639652	3	4	3	1	0	0	0	0	1	0	0	0	9101	884	31	1	209	1	LY6G5B	6	31639652	Missense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08	5414113	31639652	139475415	29	148										
BAK1	578	broad.mit.edu	37	chr6	33541652	33541652	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	agaaccaccagcacgttcagGatgggaccattgcccaagtt	10	12	1	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:33541652G>A	ENST00000374467.3	-	6	812	c.564C>T	c.(562-564)atC>atT	p.I188I	BAK1_ENST00000360661.5_Silent_p.I188I|BAK1_ENST00000442998.2_3'UTR	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	188					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GCACGTTCAGGATGGGACCAT	0.567																																						ENST00000374467.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(562-564)atC>atT		BCL2-antagonist/killer 1							53	54	54					6																	33541652		2203	4300	6503	SO:0001819	synonymous_variant	578				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity	g.chr6:33541652G>A	U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.564C>T	6.37:g.33541652G>A			Somatic				BAK1_ENST00000360661.5_Silent_p.I188I|BAK1_ENST00000442998.2_3'UTR	p.I188I	NM_001188.3	NP_001179.1	WXS	Illumina GAIIx	Phase_I	Q16611	BAK_HUMAN			6	812	-			188					C0H5Y7|Q6I9T6|Q92533	Silent	SNP	ENST00000374467.3	37	c.564C>T	CCDS4781.1																																																																																				0.567	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	NM_001188		31	29	0	0	0	1	0	31	29					A	33541652	G	A	33541652	2	1	3	1	0	0	0	0	0	0	0	1	1305	1164	41	3		3	BAK1	6	33541652	Silent	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08	1902000	33541652	137573415	30	149										
DEF6	50619	broad.mit.edu	37	chr6	35278356	35278356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	tctccaatcaggatgccttcCgcctctggtgcctcttcaac	7	16	5	0			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:35278356C>T	ENST00000316637.5	+	3	363	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	120						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						GGATGCCTTCCGCCTCTGGTG	0.532																																						ENST00000316637.5																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(358-360)Cgc>Tgc		differentially expressed in FDCP 6 homolog (mouse)							180	155	164					6																	35278356		2203	4300	6503	SO:0001583	missense	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35278356C>T	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"Pleckstrin homology (PH) domain containing"	2760	protein-coding gene	gene with protein product	"SWAP-70-like adaptor protein of T cells"	610094	"differentially expressed in FDCP (mouse homolog) 6"			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.358C>T	6.37:g.35278356C>T	ENSP00000319831:p.Arg120Cys		Somatic				DEF6_ENST00000542066.1_5'UTR	p.R120C	NM_022047.3	NP_071330.3	WXS	Illumina GAIIx	Phase_I	Q9H4E7	DEFI6_HUMAN			3	363	+			120					Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	c.358C>T	CCDS4802.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.985152|3.985152	0.74474|0.74474	.|.	.|.	ENSG00000023892|ENSG00000023892	ENST00000444278|ENST00000394658;ENST00000316637	.|D	.|0.86366	.|-2.11	5.59|5.59	4.72|4.72	0.59763|0.59763	.|.	.|0.056142	.|0.64402	.|D	.|0.000001	D|D	0.85383|0.85383	0.5684|0.5684	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|P;P	.|0.56278	.|0.795;0.795	D|D	0.87223|0.87223	0.2255|0.2255	5|10	.|0.87932	.|D	.|0	-21.4381|-21.4381	9.5931|9.5931	0.39559|0.39559	0.1728:0.7521:0.0:0.075|0.1728:0.7521:0.0:0.075	.|.	.|120;120	.|B2RBP7;Q9H4E7	.|.;DEFI6_HUMAN	L|C	28|83;120	.|ENSP00000319831:R120C	.|ENSP00000319831:R120C	P|R	+|+	2|1	0|0	DEF6|DEF6	35386334|35386334	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.793000|3.793000	0.55484|0.55484	1.360000|1.360000	0.45960|0.45960	-0.254000|-0.254000	0.11334|0.11334	CCG|CGC		0.532	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047		34	54	0	0	0	1	0	34	54					T	35278356	C	T	35278356	3	4	3	1	0	0	0	0	1	0	0	0	4388	652	23	1	368	1	DEF6	6	35278356	Missense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08	1736704	35278356	135836711	31	150										
EYA4	2070	broad.mit.edu	37	chr6	133834153	133834153	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	aagagtaaaagaattatataAcacctacaagaacaacgttg	6	6	0	3			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:133834153A>G	ENST00000367895.5	+	16	1942	c.1478A>G	c.(1477-1479)aAc>aGc	p.N493S	EYA4_ENST00000430974.2_Missense_Mutation_p.N445S|RP3-323P13.2_ENST00000451017.1_RNA|EYA4_ENST00000531901.1_Missense_Mutation_p.N499S|EYA4_ENST00000525849.1_Missense_Mutation_p.N470S|EYA4_ENST00000431403.2_Missense_Mutation_p.N493S|EYA4_ENST00000452339.2_Missense_Mutation_p.N439S|EYA4_ENST00000355167.3_Missense_Mutation_p.N493S|EYA4_ENST00000355286.6_Missense_Mutation_p.N470S|RP3-323P13.2_ENST00000607033.1_RNA	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	493					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GAATTATATAACACCTACAAG	0.388																																					Melanoma(57;398 1237 3528 4702 7415)	ENST00000367895.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48						c.(1477-1479)aAc>aGc		eyes absent homolog 4 (Drosophila)							79	82	81					6																	133834153		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133834153A>G	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"Protein tyrosine phosphatases / Asp-based PTPs"	3522	protein-coding gene	gene with protein product		603550	"eyes absent (Drosophila) homolog 4", "eyes absent homolog 4 (Drosophila)"	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1478A>G	6.37:g.133834153A>G	ENSP00000356870:p.Asn493Ser		Somatic				EYA4_ENST00000531901.1_Missense_Mutation_p.N499S|EYA4_ENST00000355286.6_Missense_Mutation_p.N470S|EYA4_ENST00000525849.1_Missense_Mutation_p.N470S|EYA4_ENST00000355167.3_Missense_Mutation_p.N493S|EYA4_ENST00000452339.2_Missense_Mutation_p.N439S|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.N493S|EYA4_ENST00000430974.2_Missense_Mutation_p.N445S	p.N493S	NM_004100.4	NP_004091.3	WXS	Illumina GAIIx	Phase_I	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	16	1942	+	Colorectal(23;0.221)		493					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1478A>G	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.335110	0.41398	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.55	5.55	0.83447	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.119551	0.85682	D	0.000000	T	0.61837	0.2379	L	0.29908	0.895	0.50313	D	0.999865	B;B;B;B;B;B	0.10296	0.001;0.001;0.002;0.002;0.003;0.001	B;B;B;B;B;B	0.06405	0.002;0.002;0.001;0.001;0.002;0.002	T	0.61850	-0.6978	10	0.46703	T	0.11	-19.2117	15.9945	0.80230	1.0:0.0:0.0:0.0	.	499;445;439;470;493;493	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	S	439;445;493;493;470;499;470;493	ENSP00000395916:N439S;ENSP00000388670:N445S;ENSP00000356870:N493S;ENSP00000347294:N493S;ENSP00000347434:N470S;ENSP00000432770:N499S;ENSP00000433219:N470S;ENSP00000404558:N493S	ENSP00000347294:N493S	N	+	2	0	EYA4	133875846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.649000	0.61433	2.232000	0.73038	0.528000	0.53228	AAC		0.388	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		16	20	0	0	0	1	0	16	20					G	133834153	A	G	133834153	3	3	3	1	0	0	0	0	1	0	0	0	5333	43	2	4	1536	4	EYA4	6	133834153	Missense_Mutation	SNP	A	TCGA-N5-A4RD-01A-11D-A28R-08	98555797	133834153	37280914	32	151										
PCLO	27445	broad.mit.edu	37	chr7	82579349	82579349	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	agatatctctgctaccgtttGaactgctatgctggagactt	9	9	1	3			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr7:82579349G>C	ENST00000333891.9	-	6	10892	c.10555C>G	c.(10555-10557)Caa>Gaa	p.Q3519E	PCLO_ENST00000423517.2_Missense_Mutation_p.Q3519E|PCLO_ENST00000437081.1_Missense_Mutation_p.Q239E	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						GCTACCGTTTGAACTGCTATG	0.458																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(10555-10557)Caa>Gaa		piccolo presynaptic cytomatrix protein							120	110	113					7																	82579349		1940	4140	6080	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.chr7:82579349G>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.10555C>G	7.37:g.82579349G>C	ENSP00000334319:p.Gln3519Glu		Somatic				PCLO_ENST00000437081.1_Missense_Mutation_p.Q239E|PCLO_ENST00000333891.8_Missense_Mutation_p.Q3519E	p.Q3519E	NM_014510.2	NP_055325.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			6	10892	-			3450						Missense_Mutation	SNP	ENST00000333891.9	37	c.10555C>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343566	0.61073	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.52754	0.65;0.7;1.19	5.61	4.72	0.59763	.	.	.	.	.	T	0.50429	0.1615	M	0.75615	2.305	0.48762	D	0.999706	B;P;P	0.36683	0.022;0.565;0.565	B;B;B	0.33690	0.011;0.168;0.168	T	0.58567	-0.7614	9	0.87932	D	0	.	16.5798	0.84712	0.0:0.1305:0.8695:0.0	.	3450;3519;3519	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	E	3450;3519;3519;239	ENSP00000334319:Q3519E;ENSP00000388393:Q3519E;ENSP00000393760:Q239E	ENSP00000334319:Q3519E	Q	-	1	0	PCLO	82417285	1.000000	0.71417	0.887000	0.34795	0.994000	0.84299	7.875000	0.87205	1.346000	0.45694	0.655000	0.94253	CAA		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		16	26	0	0	0	1	0	16	26					C	82579349	G	C	82579349	3	2	3	1	0	0	0	0	1	0	0	0	11592	1299	45	2	4970	2	PCLO	7	82579349	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08		82579349	76559314	33	152										
CCDC132	55610	broad.mit.edu	37	chr7	92905543	92905543	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	acaccgtgtttcaagttgttCttggttatgtggaactatgt	10	6	2	0			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr7:92905543C>T	ENST00000305866.5	+	12	996	c.868C>T	c.(868-870)Ctt>Ttt	p.L290F	CCDC132_ENST00000541136.1_Missense_Mutation_p.L101F|CCDC132_ENST00000544910.1_Missense_Mutation_p.L260F|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000251739.5_Missense_Mutation_p.L290F|CCDC132_ENST00000317751.6_Missense_Mutation_p.L21F	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	290						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TCAAGTTGTTCTTGGTTATGT	0.373																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(778-780)Ctt>Ttt		coiled-coil domain containing 132							197	174	182					7																	92905543		2203	4300	6503	SO:0001583	missense	55610							g.chr7:92905543C>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.868C>T	7.37:g.92905543C>T	ENSP00000307666:p.Leu290Phe		Somatic				CCDC132_ENST00000305866.5_Missense_Mutation_p.L290F|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000251739.5_Missense_Mutation_p.L290F|CCDC132_ENST00000541136.1_Missense_Mutation_p.L101F|CCDC132_ENST00000317751.6_Missense_Mutation_p.L21F	p.L260F	NM_001257998.1	NP_001244927.1	WXS	Illumina GAIIx	Phase_I	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		13	998	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		290					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.778C>T	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173510	0.57584	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000541136;ENST00000317751	T;T;T	0.45276	1.56;1.56;0.9	5.45	5.45	0.79879	Vacuolar protein sorting-associated protein 54 (1);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	N	0.21448	0.665	0.80722	D	1	D;D;P	0.76494	0.998;0.999;0.479	D;D;B	0.79784	0.961;0.993;0.17	T	0.26815	-1.0092	10	0.10111	T	0.7	-12.1418	19.656	0.95842	0.0:1.0:0.0:0.0	.	260;290;290	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	F	290;290;260;101;21	ENSP00000251739:L290F;ENSP00000445766:L101F;ENSP00000325582:L21F	ENSP00000251739:L290F	L	+	1	0	CCDC132	92743479	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.978000	0.70501	2.717000	0.92951	0.650000	0.86243	CTT		0.373	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		23	42	0	0	0	1	0	23	42					T	92905543	C	T	92905543	3	4	3	1	0	0	0	0	1	0	0	0	2769	913	32	3	914	3	CCDC132	7	92905543	Missense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08	10326194	92905543	66233120	34	153										
GPR37	2861	broad.mit.edu	37	chr7	124386977	124386977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	actctctagttgaatctgccGtttattccctcgggtacagg	9	11	2	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr7:124386977G>A	ENST00000303921.2	-	2	2094	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	482					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGAATCTGCCGTTTATTCCCT	0.428																																						ENST00000303921.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1444-1446)Cgg>Tgg		G protein-coupled receptor 37 (endothelin receptor type B-like)							109	105	107					7																	124386977		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124386977G>A		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1444C>T	7.37:g.124386977G>A	ENSP00000306449:p.Arg482Trp		Somatic					p.R482W	NM_005302.2	NP_005293.1	WXS	Illumina GAIIx	Phase_I	O15354	GPR37_HUMAN			2	2094	-			482					A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1444C>T	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047273	0.55110	.	.	ENSG00000170775	ENST00000303921	T	0.46451	0.87	5.62	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000043	T	0.52256	0.1723	L	0.32530	0.975	0.40585	D	0.981436	D	0.89917	1.0	D	0.77557	0.99	T	0.58515	-0.7623	10	0.87932	D	0	-23.3794	15.1042	0.72306	0.0:0.0:0.6227:0.3773	.	482	O15354	GPR37_HUMAN	W	482	ENSP00000306449:R482W	ENSP00000306449:R482W	R	-	1	2	GPR37	124174213	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.745000	0.47459	0.666000	0.31087	0.655000	0.94253	CGG		0.428	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		29	31	0	0	0	1	0	29	31					A	124386977	G	A	124386977	3	1	3	1	0	0	0	0	1	0	0	0	6699	1144	40	1	401	1	GPR37	7	124386977	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08	31481434	124386977	34751686	35	154										
CSMD3	114788	broad.mit.edu	37	chr8	113697868	113697868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	tccctggatcagagattatcGtccagatgcaatttaaatta	7	8	1	2			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr8:113697868G>A	ENST00000297405.5	-	15	2493	c.2249C>T	c.(2248-2250)aCg>aTg	p.T750M	CSMD3_ENST00000343508.3_Missense_Mutation_p.T710M|CSMD3_ENST00000352409.3_Missense_Mutation_p.T750M|CSMD3_ENST00000455883.2_Missense_Mutation_p.T646M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	750	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAGATTATCGTCCAGATGCA	0.428										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.(2248-2250)aCg>aTg		CUB and Sushi multiple domains 3							96	104	101					8																	113697868		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697868G>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.2249C>T	8.37:g.113697868G>A	ENSP00000297405:p.Thr750Met	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000352409.3_Missense_Mutation_p.T750M|CSMD3_ENST00000343508.3_Missense_Mutation_p.T710M|CSMD3_ENST00000455883.2_Missense_Mutation_p.T646M	p.T750M	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			15	2493	-			750			CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2249C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841742	0.71488	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1	5.72	5.72	0.89469	CUB (5);	0.169293	0.41001	D	0.000976	T	0.68924	0.3054	L	0.45352	1.415	0.32464	N	0.543758	P;D;D	0.71674	0.956;0.986;0.998	P;P;P	0.62435	0.491;0.791;0.902	T	0.71886	-0.4457	10	0.46703	T	0.11	.	19.8753	0.96867	0.0:0.0:1.0:0.0	.	646;750;710	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	M	710;750;90;646;750	ENSP00000345799:T710M;ENSP00000297405:T750M;ENSP00000341558:T90M;ENSP00000412263:T646M;ENSP00000343124:T750M	ENSP00000297405:T750M	T	-	2	0	CSMD3	113767044	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.263000	0.72521	2.711000	0.92665	0.655000	0.94253	ACG		0.428	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		36	45	0	0	0	1	0	36	45					A	113697868	G	A	113697868	3	1	3	1	0	0	0	0	1	0	0	0	3948	1145	40	1	9102	1	CSMD3	8	113697868	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08		113697868	32666154	36	155										
ZNF572	137209	broad.mit.edu	37	chr8	125989122	125989122	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	agcaatacctcccatcttatTatccatgagagaactcacac	4	13	2	2			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr8:125989122T>G	ENST00000319286.5	+	3	766	c.612T>G	c.(610-612)atT>atG	p.I204M		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CCCATCTTATTATCCATGAGA	0.473										HNSCC(60;0.17)																												ENST00000319286.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31						c.(610-612)atT>atG		zinc finger protein 572							81	84	83					8																	125989122		2203	4299	6502	SO:0001583	missense	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125989122T>G	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"Zinc fingers, C2H2-type"	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.612T>G	8.37:g.125989122T>G	ENSP00000319305:p.Ile204Met	HNSCC(60;0.17)	Somatic					p.I204M	NM_152412.2	NP_689625.2	WXS	Illumina GAIIx	Phase_I	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	766	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		204					A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	c.612T>G	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.308090	0.40895	.	.	ENSG00000180938	ENST00000319286	T	0.17213	2.29	5.19	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.132086	0.34555	N	0.003873	T	0.07234	0.0183	N	0.11023	0.085	0.09310	N	1	B	0.26002	0.139	B	0.28305	0.088	T	0.24190	-1.0167	10	0.56958	D	0.05	-4.4654	1.2555	0.01990	0.1458:0.1644:0.1512:0.5386	.	204	Q7Z3I7	ZN572_HUMAN	M	204	ENSP00000319305:I204M	ENSP00000319305:I204M	I	+	3	3	ZNF572	126058303	0.000000	0.05858	0.721000	0.30653	0.983000	0.72400	-1.626000	0.02035	0.073000	0.16731	0.533000	0.62120	ATT		0.473	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		9	92	0	0	0	1	0	9	92					G	125989122	T	G	125989122	3	3	3	1	0	0	0	0	1	0	0	0	18019	1742	61	4	618	4	ZNF572	8	125989122	Missense_Mutation	SNP	T	TCGA-N5-A4RD-01A-11D-A28R-08	12291254	125989122	20374900	37	156										
FRMPD1	22844	broad.mit.edu	37	chr9	37745609	37745609	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	aacccccagggcaaggctgcCaggctcaagaacaaaaacta	9	13	1	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr9:37745609C>T	ENST00000539465.1	+	16	4173	c.3580C>T	c.(3580-3582)Cag>Tag	p.Q1194*	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.Q1194*			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1194						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)		GCAAGGCTGCCAGGCTCAAGA	0.522																																						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.(3580-3582)Cag>Tag		FERM and PDZ domain containing 1							69	74	72					9																	37745609		2203	4300	6503	SO:0001587	stop_gained	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745609C>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3580C>T	9.37:g.37745609C>T	ENSP00000444411:p.Gln1194*		Somatic				RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.Q1194*	p.Q1194*			WXS	Illumina GAIIx	Phase_I	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4173	+			1194					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Nonsense_Mutation	SNP	ENST00000539465.1	37	c.3580C>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	42	9.605954	0.99217	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	.	.	.	4.96	4.05	0.47172	.	1.223500	0.05368	N	0.534954	.	.	.	.	.	.	0.21473	N	0.999671	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-0.8577	11.3244	0.49440	0.0:0.8158:0.1842:0.0	.	.	.	.	X	1194	.	ENSP00000366995:Q1194X	Q	+	1	0	FRMPD1	37735609	0.001000	0.12720	0.136000	0.22124	0.145000	0.21501	0.355000	0.20163	1.064000	0.40671	-0.305000	0.09177	CAG		0.522	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		22	66	0	0	0	1	0	22	66					T	37745609	C	T	37745609	4	4	3	1	0	0	0	0	0	1	0	0	6065	595	21	3	3638	3	FRMPD1	9	37745609	Nonsense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08		37745609	103467822	38	157										
UBXN1	51035	broad.mit.edu	37	chr11	62445085	62445085	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	tggtgccactgggggtggctGagagcccacactgccaccat	14	13	0	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr11:62445085G>C	ENST00000301935.5	-	7	722	c.556C>G	c.(556-558)Cag>Gag	p.Q186E	UBXN1_ENST00000524762.1_Intron|UBXN1_ENST00000533000.1_Missense_Mutation_p.Q44E|UBXN1_ENST00000294119.2_Missense_Mutation_p.Q186E|UBXN1_ENST00000529640.1_Missense_Mutation_p.Q182E			Q04323	UBXN1_HUMAN	UBX domain protein 1	186	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						GGGGGTGGCTGAGAGCCCACA	0.547																																						ENST00000294119.2																			0				endometrium(5)|lung(12)	17						c.(556-558)Cag>Gag		UBX domain protein 1							68	68	68					11																	62445085		2202	4299	6501	SO:0001583	missense	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62445085G>C		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.556C>G	11.37:g.62445085G>C	ENSP00000303991:p.Gln186Glu		Somatic				UBXN1_ENST00000301935.5_Missense_Mutation_p.Q186E|UBXN1_ENST00000533000.1_Missense_Mutation_p.Q44E|UBXN1_ENST00000529640.1_Missense_Mutation_p.Q182E|UBXN1_ENST00000524762.1_Intron	p.Q186E	NM_015853.3	NP_056937.2	WXS	Illumina GAIIx	Phase_I	Q04323	UBXN1_HUMAN			7	687	-			186			Interaction with BRCA1.		Q9BV93|Q9BVV5	Missense_Mutation	SNP	ENST00000301935.5	37	c.556C>G		.	.	.	.	.	.	.	.	.	.	G	0.423	-0.907091	0.02434	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000533000;ENST00000537534;ENST00000529640;ENST00000534176	T;T;T;T	0.21734	2.0;1.99;2.0;2.01	4.67	3.74	0.42951	.	0.860646	0.10874	N	0.624542	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	B;B;B	0.19200	0.015;0.007;0.034	B;B;B	0.21708	0.002;0.006;0.036	T	0.19778	-1.0295	10	0.02654	T	1	-0.1097	10.8801	0.46933	0.0:0.1897:0.8103:0.0	.	182;186;186	E9PRQ7;Q04323;Q04323-2	.;UBXN1_HUMAN;.	E	186;186;44;89;182;186	ENSP00000294119:Q186E;ENSP00000303991:Q186E;ENSP00000435964:Q182E;ENSP00000435625:Q186E	ENSP00000294119:Q186E	Q	-	1	0	UBXN1	62201661	1.000000	0.71417	0.680000	0.29994	0.865000	0.49528	4.538000	0.60650	1.536000	0.49237	0.655000	0.94253	CAG		0.547	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		43	48	0	0	0	1	0	43	48					C	62445085	G	C	62445085	3	2	3	1	0	0	0	0	1	0	0	0	16926	1299	45	2	390	2	UBXN1	11	62445085	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08		62445085	72561431	39	158										
TPCN2	219931	broad.mit.edu	37	chr11	68854003	68854003	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	ctccgcaggtggtccaagatCtattttgtattgtggtggct	12	8	1	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr11:68854003C>T	ENST00000294309.3	+	23	2117	c.2016C>T	c.(2014-2016)atC>atT	p.I672I	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Intron	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	672					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGTCCAAGATCTATTTTGTAT	0.547																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2014-2016)atC>atT		two pore segment channel 2							283	209	234					11																	68854003		2200	4294	6494	SO:0001819	synonymous_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68854003C>T	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"Voltage-gated ion channels / Two-pore channels"	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.2016C>T	11.37:g.68854003C>T			Somatic				TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Intron	p.I672I	NM_139075.3	NP_620714.2	WXS	Illumina GAIIx	Phase_I	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		23	2117	+			672					Q9NT82	Silent	SNP	ENST00000294309.3	37	c.2016C>T	CCDS8189.1																																																																																				0.547	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		32	8	0	0	0	1	0	32	8					T	68854003	C	T	68854003	2	4	3	1	0	0	0	0	0	0	0	1	16411	903	32	3		3	TPCN2	11	68854003	Silent	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08	6408918	68854003	66152513	40	159										
HEPHL1	341208	broad.mit.edu	37	chr11	93800731	93800731	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	tggagaatctgtgtcctggcAcctatttggaatggggaatg	14	6	1	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr11:93800731A>T	ENST00000315765.9	+	5	886	c.878A>T	c.(877-879)cAc>cTc	p.H293L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	293	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTGTCCTGGCACCTATTTGGA	0.468																																						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.(877-879)cAc>cTc		hephaestin-like 1							164	165	165					11																	93800731		1939	4126	6065	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93800731A>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.878A>T	11.37:g.93800731A>T	ENSP00000313699:p.His293Leu		Somatic					p.H293L	NM_001098672.1	NP_001092142.1	WXS	Illumina GAIIx	Phase_I	Q6MZM0	HPHL1_HUMAN			5	886	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	293			Plastocyanin-like 2.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.878A>T	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.726026	0.89298	.	.	ENSG00000181333	ENST00000315765	D	0.99797	-6.79	5.36	5.36	0.76844	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	M	0.78285	2.405	0.58432	D	0.999997	D	0.76494	0.999	D	0.78314	0.991	D	0.97354	0.9965	10	0.72032	D	0.01	.	15.6458	0.77049	1.0:0.0:0.0:0.0	.	293	Q6MZM0	HPHL1_HUMAN	L	293	ENSP00000313699:H293L	ENSP00000313699:H293L	H	+	2	0	HEPHL1	93440379	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	8.991000	0.93514	2.158000	0.67659	0.459000	0.35465	CAC		0.468	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		53	11	0	0	0	1	0	53	11					T	93800731	A	T	93800731	3	4	3	1	0	0	0	0	1	0	0	0	7064	159	6	4	896	4	HEPHL1	11	93800731	Missense_Mutation	SNP	A	TCGA-N5-A4RD-01A-11D-A28R-08	24946728	93800731	41205785	41	160										
GLB1L3	112937	broad.mit.edu	37	chr11	134179592	134179592	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	atatatgttccatggtggaaCcaactttggtttcatgaacg	9	7	1	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr11:134179592C>G	ENST00000431683.2	+	11	1034	c.1034C>G	c.(1033-1035)aCc>aGc	p.T345S		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	345					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)		CATGGTGGAACCAACTTTGGT	0.468																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1033-1035)aCc>aGc		galactosidase, beta 1-like 3							87	83	84					11																	134179592		1921	4107	6028	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134179592C>G		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.1034C>G	11.37:g.134179592C>G	ENSP00000396615:p.Thr345Ser		Somatic					p.T345S	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)	11	1034	+	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)	345					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.1034C>G	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261821	0.59431	.	.	ENSG00000166105	ENST00000431683	D	0.99136	-5.47	4.76	3.84	0.44239	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.225081	0.45126	D	0.000397	D	0.99055	0.9676	M	0.84585	2.705	0.46499	D	0.999077	D;D	0.76494	0.999;0.995	D;D	0.72982	0.976;0.979	D	0.98446	1.0589	10	0.66056	D	0.02	.	8.1902	0.31363	0.0:0.8938:0.0:0.1062	.	6;345	Q8NCI6-2;Q8NCI6	.;GLBL3_HUMAN	S	345	ENSP00000396615:T345S	ENSP00000396615:T345S	T	+	2	0	GLB1L3	133684802	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.865000	0.56033	2.619000	0.88677	0.455000	0.32223	ACC		0.468	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		5	4	0	0	0	1	0	5	4					G	134179592	C	G	134179592	3	3	3	1	0	0	0	0	1	0	0	0	6438	507	18	5	1076	5	GLB1L3	11	134179592	Missense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08	40378861	134179592	826924	42	161										
CHD4	1108	broad.mit.edu	37	chr12	6700659	6700659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	gcggtcaatggcctcttgccGcatgttcccagtgattccac	10	14	2	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr12:6700659G>A	ENST00000357008.2	-	22	3476	c.3313C>T	c.(3313-3315)Cgg>Tgg	p.R1105W	CHD4_ENST00000544040.1_Missense_Mutation_p.R1098W|CHD4_ENST00000544484.1_Missense_Mutation_p.R1102W|CHD4_ENST00000309577.6_Missense_Mutation_p.R1105W	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1105	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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.R1105W(1)		central_nervous_system(2)	2						GCCTCTTGCCGCATGTTCCCA	0.433																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			1	Substitution - Missense(1)	p.R1105W(1)	large_intestine(1)	central_nervous_system(2)	2						c.(3313-3315)Cgg>Tgg		chromodomain helicase DNA binding protein 4							179	150	160					12																	6700659		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.chr12:6700659G>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.3313C>T	12.37:g.6700659G>A	ENSP00000349508:p.Arg1105Trp		Somatic				CHD4_ENST00000544484.1_Missense_Mutation_p.R1102W|CHD4_ENST00000357008.2_Missense_Mutation_p.R1105W|CHD4_ENST00000544040.1_Missense_Mutation_p.R1098W	p.R1105W			WXS	Illumina GAIIx	Phase_I	Q14839	CHD4_HUMAN			22	3476	-			1105			Helicase C-terminal.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3313C>T	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648870	0.87958	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.15	5.15	0.70609	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98108	0.9376	H	0.99951	5.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.992	D	0.99873	1.1099	10	0.87932	D	0	.	18.6317	0.91361	0.0:0.0:1.0:0.0	.	1105;1105;1098	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	W	1102;1098;1105;1105;1079	ENSP00000440392:R1102W;ENSP00000440542:R1098W;ENSP00000312419:R1105W;ENSP00000349508:R1105W	ENSP00000312419:R1105W	R	-	1	2	CHD4	6570920	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.720000	0.68470	2.409000	0.81822	0.655000	0.94253	CGG		0.433	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		31	37	0	0	0	1	0	31	37					A	6700659	G	A	6700659	3	1	3	1	0	0	0	0	1	0	0	0	3329	1086	38	1	2501	1	CHD4	12	6700659	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08		6700659	127151236	43	162										
MLL2	8085	broad.mit.edu	37	chr12	49434535	49434535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	gcccaagcccgggctctgggGctctacctgagatgcccgag	14	15	2	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr12:49434535G>A	ENST00000301067.7	-	31	7017	c.7018C>T	c.(7018-7020)Ccc>Tcc	p.P2340S		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2340	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)										GGGCTCTGGGGCTCTACCTGA	0.632																																						ENST00000301067.7																			0											c.(7018-7020)Ccc>Tcc		lysine (K)-specific methyltransferase 2D							19	22	21					12																	49434535		1848	4073	5921	SO:0001583	missense	8085							g.chr12:49434535G>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.7018C>T	12.37:g.49434535G>A	ENSP00000301067:p.Pro2340Ser		Somatic					p.P2340S	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					31	7017	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.7018C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283949	0.23392	.	.	ENSG00000167548	ENST00000301067	T	0.80304	-1.36	5.07	5.07	0.68467	.	0.000000	0.38058	N	0.001838	T	0.81898	0.4920	L	0.41824	1.3	0.27526	N	0.951251	D	0.58268	0.982	P	0.52554	0.702	T	0.78079	-0.2344	10	0.87932	D	0	.	17.611	0.88053	0.0:0.0:1.0:0.0	.	2340	O14686	MLL2_HUMAN	S	2340	ENSP00000301067:P2340S	ENSP00000301067:P2340S	P	-	1	0	MLL2	47720802	0.811000	0.29063	1.000000	0.80357	0.986000	0.74619	0.923000	0.28757	2.536000	0.85505	0.655000	0.94253	CCC		0.632	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			15	19	0	0	0	1	0	15	19					A	49434535	G	A	49434535	3	1	3	1	0	0	0	0	1	0	0	0	9630	1203	42	3	9691	3	MLL2	12	49434535	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08	42733876	49434535	84417360	44	163										
HOXC13	3229	broad.mit.edu	37	chr12	54333359	54333359	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	tgggctctctccaatggctgGgacagtcaggtgtactgctc	13	11	2	0			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr12:54333359G>C	ENST00000243056.3	+	1	825	c.669G>C	c.(667-669)tgG>tgC	p.W223C	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	223					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						CCAATGGCTGGGACAGTCAGG	0.682			T	NUP98	AML																																	ENST00000243056.3				Dom	yes		12	12q13.3	3229	T	homeo box C13			L	NUP98		AML		0				breast(1)|large_intestine(1)|skin(1)	3						c.(667-669)tgG>tgC		homeobox C13							15	17	16					12																	54333359		2192	4283	6475	SO:0001583	missense	3229					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54333359G>C		CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"Homeoboxes / ANTP class : HOXL subclass"	5125	protein-coding gene	gene with protein product		142976	"homeo box C13"	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.669G>C	12.37:g.54333359G>C	ENSP00000243056:p.Trp223Cys		Somatic				HOXC-AS5_ENST00000512916.2_RNA	p.W223C	NM_017410.2	NP_059106.2	WXS	Illumina GAIIx	Phase_I	P31276	HXC13_HUMAN			1	825	+			223					Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	ENST00000243056.3	37	c.669G>C	CCDS8865.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561546	0.65538	.	.	ENSG00000123364	ENST00000243056	D	0.94232	-3.38	3.15	3.15	0.36227	.	0.000000	0.85682	D	0.000000	D	0.95787	0.8629	M	0.81682	2.555	0.80722	D	1	P	0.51653	0.947	P	0.60886	0.88	D	0.95881	0.8899	10	0.56958	D	0.05	.	14.2095	0.65755	0.0:0.0:1.0:0.0	.	223	P31276	HXC13_HUMAN	C	223	ENSP00000243056:W223C	ENSP00000243056:W223C	W	+	3	0	HOXC13	52619626	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.980000	0.93460	2.100000	0.63781	0.305000	0.20034	TGG		0.682	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358865.2			11	24	0	0	0	1	0	11	24					C	54333359	G	C	54333359	3	2	3	1	0	0	0	0	1	0	0	0	7321	1241	43	5	671	5	HOXC13	12	54333359	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08	4898824	54333359	79518536	45	164										
HELB	92797	broad.mit.edu	37	chr12	66725099	66725099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	acagttttcctagaaaaactCgtttgaaacatttcttgcaa	5	8	1	2			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr12:66725099C>T	ENST00000247815.4	+	12	2895	c.2836C>T	c.(2836-2838)Cgt>Tgt	p.R946C		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	946					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)		TAGAAAAACTCGTTTGAAACA	0.527																																						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.(2836-2838)Cgt>Tgt		helicase (DNA) B							53	55	54					12																	66725099		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.chr12:66725099C>T	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2836C>T	12.37:g.66725099C>T	ENSP00000247815:p.Arg946Cys		Somatic					p.R946C	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	2895	+			946					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.2836C>T	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550574	0.65311	.	.	ENSG00000127311	ENST00000247815	T	0.13901	2.55	5.37	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.33089	0.0851	M	0.66939	2.045	0.39951	D	0.97454	D	0.89917	1.0	D	0.76071	0.987	T	0.03043	-1.1079	9	.	.	.	-19.4375	12.6488	0.56749	0.0:0.922:0.0:0.078	.	946	Q8NG08	HELB_HUMAN	C	946	ENSP00000247815:R946C	.	R	+	1	0	HELB	65011366	0.937000	0.31787	0.727000	0.30756	0.744000	0.42396	1.878000	0.39608	2.507000	0.84556	0.561000	0.74099	CGT		0.527	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			9	50	0	0	0	1	0	9	50					T	66725099	C	T	66725099	3	4	3	1	0	0	0	0	1	0	0	0	7054	884	31	1	2882	1	HELB	12	66725099	Missense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08	12391740	66725099	67126796	46	165										
DNAH10	196385	broad.mit.edu	37	chr12	124402320	124402320	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	catgctggacaatgtggaccTggtgcacaccctggaggaga	14	10	0	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr12:124402320T>A	ENST00000409039.3	+	63	10863	c.10838T>A	c.(10837-10839)cTg>cAg	p.L3613Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3613	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)			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)		AATGTGGACCTGGTGCACACC	0.607																																						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.(10837-10839)cTg>cAg		dynein, axonemal, heavy chain 10							41	47	45					12																	124402320		2181	4259	6440	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124402320T>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.10838T>A	12.37:g.124402320T>A	ENSP00000386770:p.Leu3613Gln		Somatic					p.L3613Q	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)	63	10863	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3613			AAA 5 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.10838T>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	26.5	4.743644	0.89663	.	.	ENSG00000197653	ENST00000409039	T	0.57107	0.42	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000008	D	0.83376	0.5241	H	0.99011	4.4	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.90223	0.4273	10	0.87932	D	0	.	14.6631	0.68888	0.0:0.0:0.0:1.0	.	3613	Q8IVF4	DYH10_HUMAN	Q	3613	ENSP00000386770:L3613Q	ENSP00000386770:L3613Q	L	+	2	0	DNAH10	122968273	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.950000	0.87804	1.884000	0.54569	0.402000	0.26972	CTG		0.607	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			4	2	0	0	0	1	0	4	2					A	124402320	T	A	124402320	3	1	3	1	0	0	0	0	1	0	0	0	4600	1580	55	4	11088	4	DNAH10	12	124402320	Missense_Mutation	SNP	T	TCGA-N5-A4RD-01A-11D-A28R-08	57677221	124402320	9449575	47	166										
KLHL1	57626	broad.mit.edu	37	chr13	70314570	70314570	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	actgtgctccgagcaattgaCatactggctacaaatgtcca	8	11	0	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr13:70314570C>A	ENST00000377844.4	-	8	2517	c.1758G>T	c.(1756-1758)atG>atT	p.M586I	KLHL1_ENST00000545028.1_Missense_Mutation_p.M393I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	586					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GAGCAATTGACATACTGGCTA	0.393																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1756-1758)atG>atT		kelch-like family member 1							99	87	91					13																	70314570		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70314570C>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1758G>T	13.37:g.70314570C>A	ENSP00000367075:p.Met586Ile		Somatic				KLHL1_ENST00000545028.1_Missense_Mutation_p.M393I	p.M586I	NM_020866.2	NP_065917.1	WXS	Illumina GAIIx	Phase_I	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	8	2517	-		Breast(118;0.000162)	586					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1758G>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731068	0.89390	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	D;D	0.84070	-1.8;-1.8	4.95	4.95	0.65309	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000001	D	0.90700	0.7082	M	0.70842	2.15	0.54753	D	0.999986	D;D	0.89917	0.998;1.0	D;D	0.97110	0.987;1.0	D	0.91494	0.5214	10	0.66056	D	0.02	.	18.5348	0.91006	0.0:1.0:0.0:0.0	.	586;586	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	I	586;393	ENSP00000367075:M586I;ENSP00000439602:M393I	ENSP00000367075:M586I	M	-	3	0	KLHL1	69212571	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.476000	0.83614	0.491000	0.48974	ATG		0.393	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		5	20	1	0	0.000602214	1	0.000602214	5	20					A	70314570	C	A	70314570	3	1	3	1	0	0	0	0	1	0	0	0	8374	478	17	5	504	5	KLHL1	13	70314570	Missense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08		70314570	44855308	48	167										
PDIA3	2923	broad.mit.edu	37	chr15	44048891	44048891	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	acctgtaataaatatggagtCagtggatatccaaccctgaa	8	8	1	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr15:44048891C>T	ENST00000300289.5	+	3	439	c.291C>T	c.(289-291)gtC>gtT	p.V97V	PDIA3_ENST00000538521.1_Silent_p.V77V|PDIA3_ENST00000469684.1_3'UTR	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	97	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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 redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AATATGGAGTCAGTGGATATC	0.393																																						ENST00000300289.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17						c.(289-291)gtC>gtT		protein disulfide isomerase family A, member 3							154	150	152					15																	44048891		2198	4298	6496	SO:0001819	synonymous_variant	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44048891C>T		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"Protein disulfide isomerases"	4606	protein-coding gene	gene with protein product		602046	"glucose regulated protein, 58kDa", "protein disulfide isomerase-associated 3"	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.291C>T	15.37:g.44048891C>T			Somatic				PDIA3_ENST00000469684.1_3'UTR|PDIA3_ENST00000538521.1_Silent_p.V77V	p.V97V	NM_005313.4	NP_005304.3	WXS	Illumina GAIIx	Phase_I	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	3	439	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	97			Thioredoxin 1.		Q13453|Q14255|Q8IYF8|Q9UMU7	Silent	SNP	ENST00000300289.5	37	c.291C>T	CCDS10101.1																																																																																				0.393	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		22	36	0	0	0	1	0	22	36					T	44048891	C	T	44048891	2	4	3	1	0	0	0	0	0	0	0	1	11678	813	29	3		3	PDIA3	15	44048891	Silent	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08		44048891	58482501	49	168										
TELO2	9894	broad.mit.edu	37	chr16	1544439	1544439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	cgctcccgagggagaaggagGagtttgcctcggcccacttc	14	13	0	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr16:1544439G>A	ENST00000262319.6	+	2	436	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	53					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)				GGAGAAGGAGGAGTTTGCCTC	0.647											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(157-159)Gag>Aag		telomere maintenance 2							128	127	127					16																	1544439		2199	4300	6499	SO:0001583	missense	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1544439G>A	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.157G>A	16.37:g.1544439G>A	ENSP00000262319:p.Glu53Lys		Somatic	OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	596		p.E53K	NM_016111.3	NP_057195.2	WXS	Illumina GAIIx	Phase_I	Q9Y4R8	TELO2_HUMAN			2	436	+		Hepatocellular(780;0.219)	53					D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	c.157G>A	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560881	0.86335	.	.	ENSG00000100726	ENST00000262319	D	0.88975	-2.45	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	D	0.92938	0.7753	M	0.72894	2.215	0.50171	D	0.999857	D	0.89917	1.0	D	0.83275	0.996	D	0.91434	0.5168	10	0.27785	T	0.31	-27.2066	13.9875	0.64345	0.0:0.0:1.0:0.0	.	53	Q9Y4R8	TELO2_HUMAN	K	53	ENSP00000262319:E53K	ENSP00000262319:E53K	E	+	1	0	TELO2	1484440	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	5.540000	0.67205	2.146000	0.66826	0.561000	0.74099	GAG		0.647	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		72	64	0	0	0	1	0	72	64					A	1544439	G	A	1544439	3	1	3	1	0	0	0	0	1	0	0	0	15772	1175	41	3	159	3	TELO2	16	1544439	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08		1544439	88810314	50	169										
ZFHX3	463	broad.mit.edu	37	chr16	72992232	72992232	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	accctctgtgctttcatttgGttctggtgctgtggcattgt	11	9	3	0			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr16:72992232G>T	ENST00000268489.5	-	2	2485	c.1813C>A	c.(1813-1815)Cca>Aca	p.P605T	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	605					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)				CTTTCATTTGGTTCTGGTGCT	0.602																																						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.(1813-1815)Cca>Aca		zinc finger homeobox 3							108	101	104					16																	72992232		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.chr16:72992232G>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.1813C>A	16.37:g.72992232G>T	ENSP00000268489:p.Pro605Thr		Somatic				ZFHX3_ENST00000397992.5_Intron	p.P605T	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			2	2485	-		Ovarian(137;0.13)	605					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.1813C>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263923	0.39995	.	.	ENSG00000140836	ENST00000268489	T	0.76186	-1.0	5.04	5.04	0.67666	.	0.000000	0.49916	D	0.000135	T	0.77850	0.4192	L	0.58101	1.795	0.80722	D	1	P	0.45634	0.863	P	0.46758	0.526	T	0.81072	-0.1098	10	0.72032	D	0.01	.	18.7639	0.91864	0.0:0.0:1.0:0.0	.	605	Q15911	ZFHX3_HUMAN	T	605	ENSP00000268489:P605T	ENSP00000268489:P605T	P	-	1	0	ZFHX3	71549733	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.358000	0.97109	2.505000	0.84491	0.650000	0.86243	CCA		0.602	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		15	41	1	0	2.32078e-09	1	2.37353e-09	15	41					T	72992232	G	T	72992232	3	4	3	1	0	0	0	0	1	0	0	0	17649	1261	44	5	9334	5	ZFHX3	16	72992232	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08	71447793	72992232	17362521	51	170										
GINS2	51659	broad.mit.edu	37	chr16	85721095	85721095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	tccactctggagggagcaggCgacatttctgtctttgtttc	11	10	3	0			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr16:85721095C>T	ENST00000253462.3	-	2	276	c.176G>A	c.(175-177)cGc>cAc	p.R59H	C16orf74_ENST00000602758.1_5'Flank	NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	59					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						AGGGAGCAGGCGACATTTCTG	0.577																																						ENST00000253462.3																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(175-177)cGc>cAc		GINS complex subunit 2 (Psf2 homolog)							179	142	154					16																	85721095		2198	4300	6498	SO:0001583	missense	51659				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding	g.chr16:85721095C>T	BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.176G>A	16.37:g.85721095C>T	ENSP00000253462:p.Arg59His		Somatic					p.R59H	NM_016095.2	NP_057179.1	WXS	Illumina GAIIx	Phase_I	Q9Y248	PSF2_HUMAN			2	276	-			59					D3DUM5|Q6IAG9	Missense_Mutation	SNP	ENST00000253462.3	37	c.176G>A	CCDS10953.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893416	0.52121	.	.	ENSG00000131153	ENST00000253462	.	.	.	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.70108	2.13	0.80722	D	1	P;P	0.42584	0.784;0.784	B;B	0.22880	0.042;0.042	T	0.62258	-0.6892	9	0.51188	T	0.08	-27.3021	15.5358	0.76001	0.0:1.0:0.0:0.0	.	59;59	Q53G08;Q9Y248	.;PSF2_HUMAN	H	59	.	ENSP00000253462:R59H	R	-	2	0	GINS2	84278596	0.999000	0.42202	0.397000	0.26308	0.527000	0.34593	5.179000	0.65043	1.950000	0.56595	0.484000	0.47621	CGC		0.577	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269098.1	NM_016095		43	39	0	0	0	1	0	43	39					T	85721095	C	T	85721095	3	4	3	1	0	0	0	0	1	0	0	0	6396	768	27	1	397	1	GINS2	16	85721095	Missense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08	12728863	85721095	4633658	52	171										
ZC3H18	124245	broad.mit.edu	37	chr16	88677691	88677691	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	caaaggaaagggagcgggagCgagagagagagaacagacag	18	5	0	4			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr16:88677691C>T	ENST00000301011.5	+	8	1422	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R432*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	408						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ggagcgggagcgagagagaga	0.642																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1222-1224)Cga>Tga		zinc finger CCCH-type containing 18							13	16	15					16																	88677691		2030	4080	6110	SO:0001587	stop_gained	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88677691C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1222C>T	16.37:g.88677691C>T	ENSP00000301011:p.Arg408*		Somatic				ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R432*	p.R408*	NM_144604.3	NP_653205.3	WXS	Illumina GAIIx	Phase_I	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	8	1422	+			408					Q96DG4|Q96MP7	Nonsense_Mutation	SNP	ENST00000301011.5	37	c.1222C>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	c	40	8.062127	0.98635	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	.	.	.	4.64	2.59	0.31030	.	0.307811	0.30383	N	0.009742	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-3.092	10.9962	0.47578	0.3394:0.6606:0.0:0.0	.	.	.	.	X	408;432;432;291	.	ENSP00000289509:R432X	R	+	1	2	ZC3H18	87205192	0.881000	0.30235	0.018000	0.16275	0.953000	0.61014	1.570000	0.36439	0.447000	0.26695	0.457000	0.33378	CGA		0.642	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		15	10	0	0	0	1	0	15	10					T	88677691	C	T	88677691	4	4	3	1	0	0	0	0	0	1	0	0	17583	760	27	1	1248	1	ZC3H18	16	88677691	Nonsense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08	2956596	88677691	1677062	53	172										
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	p.R248Q	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	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	4	0	0	0	1	0	24	4					T	7577538	C	T	7577538	3	4	3	1	0	0	0	0	1	0	0	0	16396	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08		7577538	73617672	54	173										
TMEM132E	124842	broad.mit.edu	37	chr17	32964455	32964455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	cacgacccctgtgggcctgcGggtgcactttgggagggacg	17	12	0	0	rs374583943		TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr17:32964455G>A	ENST00000321639.5	+	10	2487	c.2159G>A	c.(2158-2160)cGg>cAg	p.R720Q		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	720						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)		GTGGGCCTGCGGGTGCACTTT	0.682																																						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.(2158-2160)cGg>cAg		transmembrane protein 132E							32	37	36					17																	32964455		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32964455G>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.2159G>A	17.37:g.32964455G>A	ENSP00000316532:p.Arg720Gln		Somatic					p.R720Q	NM_207313.1	NP_997196.1	WXS	Illumina GAIIx	Phase_I	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2487	+			720					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.2159G>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709738	0.48517	.	.	ENSG00000181291	ENST00000321639	T	0.17528	2.27	4.65	4.65	0.58169	.	0.118609	0.56097	D	0.000033	T	0.09774	0.0240	N	0.19112	0.55	0.27831	N	0.941431	B	0.28470	0.213	B	0.19148	0.024	T	0.15292	-1.0442	10	0.27785	T	0.31	-29.9189	9.963	0.41708	0.0933:0.0:0.9067:0.0	.	720	Q6IEE7	T132E_HUMAN	Q	720	ENSP00000316532:R720Q	ENSP00000316532:R720Q	R	+	2	0	TMEM132E	29988568	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	2.572000	0.45999	2.412000	0.81896	0.549000	0.68633	CGG		0.682	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		33	5	0	0	0	1	0	33	5					A	32964455	G	A	32964455	3	1	3	1	0	0	0	0	1	0	0	0	16063	1116	39	1	2197	1	TMEM132E	17	32964455	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08	25386917	32964455	48230755	55	174										
ABCA10	10349	broad.mit.edu	37	chr17	67193233	67193233	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	gcttctacttttccagtcttTccattatattcttttataac	2	10	3	0			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr17:67193233T>C	ENST00000269081.4	-	12	2115	c.1206A>G	c.(1204-1206)ggA>ggG	p.G402G	ABCA10_ENST00000432313.2_Silent_p.G402G|ABCA10_ENST00000416101.2_Silent_p.G402G	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	402	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(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)					TTCCAGTCTTTCCATTATATT	0.388																																						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.(1204-1206)ggA>ggG		ATP-binding cassette, sub-family A (ABC1), member 10							119	112	114					17																	67193233		2200	4297	6497	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67193233T>C	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.1206A>G	17.37:g.67193233T>C			Somatic				ABCA10_ENST00000416101.2_Silent_p.G402G|ABCA10_ENST00000432313.2_Silent_p.G402G	p.G402G	NM_080282.3	NP_525021.3	WXS	Illumina GAIIx	Phase_I	Q8WWZ4	ABCAA_HUMAN			12	2115	-	Breast(10;6.95e-12)		402			ABC transporter 1.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.1206A>G	CCDS11684.1																																																																																				0.388	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		4	8	0	0	0	1	0	4	8					C	67193233	T	C	67193233	2	2	3	1	0	0	0	0	0	0	0	1	29	1770	62	4		4	ABCA10	17	67193233	Silent	SNP	T	TCGA-N5-A4RD-01A-11D-A28R-08	34228778	67193233	14001977	56	175										
RECQL5	9400	broad.mit.edu	37	chr17	73661200	73661200	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	aacagagcagggagctgataGcatagggattttcctgcccc	12	10	0	2			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr17:73661200G>A	ENST00000317905.5	-	3	342	c.183C>T	c.(181-183)tgC>tgT	p.C61C	SAP30BP_ENST00000584667.1_5'Flank|SAP30BP_ENST00000355423.3_5'Flank|RECQL5_ENST00000340830.5_Silent_p.C61C|RECQL5_ENST00000584999.1_Silent_p.C61C|RECQL5_ENST00000420326.2_Silent_p.C61C|RECQL5_ENST00000423245.2_Intron	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	61	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)			GGAGCTGATAGCATAGGGATT	0.473								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.(181-183)tgC>tgT	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							197	174	181					17																	73661200		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.chr17:73661200G>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.183C>T	17.37:g.73661200G>A			Somatic				RECQL5_ENST00000340830.5_Silent_p.C61C|RECQL5_ENST00000423245.2_Intron|RECQL5_ENST00000584999.1_Silent_p.C61C|RECQL5_ENST00000317905.5_Silent_p.C61C	p.C61C	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)		3	342	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		61			Helicase ATP-binding.		Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	ENST00000317905.5	37	c.183C>T	CCDS42380.1																																																																																				0.473	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		84	95	0	0	0	1	0	84	95					A	73661200	G	A	73661200	2	1	3	1	0	0	0	0	0	0	0	1	13218	963	34	3		3	RECQL5	17	73661200	Silent	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08	6467967	73661200	7534010	57	176										
GATA6	2627	broad.mit.edu	37	chr18	19756993	19756993	+	Frame_Shift_Del	DEL	G	G	-													0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	cgccgctgtggcggcgggacGgcaccggccactacctgtgc							TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr18:19756993delG	ENST00000269216.3	+	3	1490	c.1213delG	c.(1213-1215)ggcfs	p.G405fs	RP11-627G18.2_ENST00000578504.1_RNA|GATA6_ENST00000581694.1_Frame_Shift_Del_p.G405fs	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	405					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)			GCGGCGGGACGGCACCGGCCA	0.682																																					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.(1213-1215)gcfs		GATA binding protein 6							6	7	6					18																	19756993		1910	3860	5770	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.chr18:19756993delG	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.1213delG	18.37:g.19756993delG	ENSP00000269216:p.Gly405fs		Somatic				GATA6_ENST00000581694.1_Frame_Shift_Del_p.G405fs	p.G405fs	NM_005257.4	NP_005248.2	WXS	Illumina GAIIx	Phase_I	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		3	1490	+	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)		405					B0YJ17|P78327	Frame_Shift_Del	DEL	ENST00000269216.3	37	c.1213delG	CCDS11872.1																																																																																				0.682	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		2	4						2	4	---	---	---	---	-	19756993	G	-	19756993	7	5	3	1	0	1	0	1	0	0	0	0	6266	1116	39	0	1219	0	GATA6	18	19756993	Frame_Shift_Del	DEL	G	TCGA-N5-A4RD-01A-11D-A28R-08		19756993	58320255	58	177										
SALL3	27164	broad.mit.edu	37	chr18	76756943	76756943	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	ccccgcgagacgcggccgccGcctgtctgtggagaacccca	13	18	1	2			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr18:76756943G>A	ENST00000537592.2	+	3	3524	c.3524G>A	c.(3523-3525)cGc>cAc	p.R1175H	SALL3_ENST00000575389.2_Missense_Mutation_p.R1103H|SALL3_ENST00000536229.3_Missense_Mutation_p.R970H	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1175					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGCGGCCGCCGCCTGTCTGTG	0.612																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2908-2910)cGc>cAc		spalt-like transcription factor 3							27	30	29					18																	76756943		2203	4300	6503	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76756943G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3524G>A	18.37:g.76756943G>A	ENSP00000441823:p.Arg1175His		Somatic				SALL3_ENST00000537592.2_Missense_Mutation_p.R1175H|SALL3_ENST00000575389.2_Missense_Mutation_p.R1103H	p.R970H			WXS	Illumina GAIIx	Phase_I	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	3	3618	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1175					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.2909G>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888652	0.52014	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.12361	2.69	4.79	4.79	0.61399	.	0.000000	0.56097	D	0.000028	T	0.45074	0.1324	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.54827	-0.8235	10	0.72032	D	0.01	-51.9687	18.2244	0.89913	0.0:0.0:1.0:0.0	.	835;1175	F5GXY4;Q9BXA9	.;SALL3_HUMAN	H	1175;1103;835	ENSP00000441823:R1175H	ENSP00000299466:R1175H	R	+	2	0	SALL3	74857931	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.727000	0.98787	2.351000	0.79841	0.561000	0.74099	CGC		0.612	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		14	17	0	0	0	1	0	14	17					A	76756943	G	A	76756943	3	1	3	1	0	0	0	0	1	0	0	0	13827	1087	38	1	3534	1	SALL3	18	76756943	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08	56999950	76756943	1320305	59	178										
MLLT1	4298	broad.mit.edu	37	chr19	6230661	6230661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	ctcgcagcgcaggtggttcaCgggcgggttgccttccaggt	16	12	1	0			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr19:6230661C>T	ENST00000252674.7	-	4	503	c.340G>A	c.(340-342)Gtg>Atg	p.V114M		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	114					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.V114M(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGGTGGTTCACGGGCGGGTTG	0.612			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 - Missense(1)	p.V114M(1)	endometrium(1)	endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(340-342)Gtg>Atg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							169	169	169					19																	6230661		2203	4300	6503	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6230661C>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.340G>A	19.37:g.6230661C>T	ENSP00000252674:p.Val114Met		Somatic					p.V114M	NM_005934.3	NP_005925.2	WXS	Illumina GAIIx	Phase_I	Q03111	ENL_HUMAN			4	503	-			114					Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.340G>A	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869774	0.72065	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.78509	0.4294	M	0.81802	2.56	0.80722	D	1	D	0.65815	0.995	D	0.63381	0.914	T	0.82364	-0.0494	9	0.87932	D	0	-28.3179	16.3961	0.83605	0.0:1.0:0.0:0.0	.	114	Q03111	ENL_HUMAN	M	114	.	ENSP00000252674:V114M	V	-	1	0	MLLT1	6181661	1.000000	0.71417	0.511000	0.27724	0.409000	0.31022	7.514000	0.81750	2.427000	0.82271	0.655000	0.94253	GTG		0.612	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		109	17	0	0	0	1	0	109	17					T	6230661	C	T	6230661	3	4	3	1	0	0	0	0	1	0	0	0	9634	536	19	1	1375	1	MLLT1	19	6230661	Missense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08		6230661	52898322	60	179										
ZNF333	84449	broad.mit.edu	37	chr19	14817512	14817512	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	gtccagggactgaaggccgcTatgcagattcagagggtggt	16	8	1	3			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr19:14817512T>A	ENST00000292530.6	+	7	529	c.438T>A	c.(436-438)gcT>gcA	p.A146A	ZNF333_ENST00000601134.1_Missense_Mutation_p.Y87N|ZNF333_ENST00000540689.2_Silent_p.A146A|ZNF333_ENST00000536363.1_Silent_p.A37A	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						TGAAGGCCGCTATGCAGATTC	0.572																																					NSCLC(60;75 1281 16985 25154 29885)	ENST00000601134.1																			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.(259-261)Tat>Aat		zinc finger protein 333							95	89	91					19																	14817512		2203	4300	6503	SO:0001819	synonymous_variant	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14817512T>A		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.438T>A	19.37:g.14817512T>A			Somatic				ZNF333_ENST00000540689.2_Silent_p.A146A|ZNF333_ENST00000536363.1_Silent_p.A37A|ZNF333_ENST00000292530.6_Silent_p.A146A	p.Y87N			WXS	Illumina GAIIx	Phase_I	Q96JL9	ZN333_HUMAN			5	377	+			0					Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	c.259T>A	CCDS12316.1																																																																																				0.572	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		38	7	0	0	0	1	0	38	7					A	14817512	T	A	14817512	2	1	3	1	0	0	0	0	0	0	0	1	17865	1509	53	4		4	ZNF333	19	14817512	Silent	SNP	T	TCGA-N5-A4RD-01A-11D-A28R-08	8586851	14817512	44311471	61	180										
AP1M1	8907	broad.mit.edu	37	chr19	16317206	16317206	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	gctggtcttttctttcctctAtaaggtggtgcaggtgagtc	12	8	3	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr19:16317206A>G	ENST00000291439.3	+	3	703	c.254A>G	c.(253-255)tAt>tGt	p.Y85C	AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000429941.2_Missense_Mutation_p.Y85C|AP1M1_ENST00000444449.2_Missense_Mutation_p.Y85C	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	85					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|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)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TCTTTCCTCTATAAGGTGGTG	0.592																																						ENST00000291439.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						c.(253-255)tAt>tGt		adaptor-related protein complex 1, mu 1 subunit							305	285	292					19																	16317206		2203	4300	6503	SO:0001583	missense	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|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	g.chr19:16317206A>G		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.254A>G	19.37:g.16317206A>G	ENSP00000291439:p.Tyr85Cys		Somatic				AP1M1_ENST00000429941.2_Missense_Mutation_p.Y85C|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000444449.2_Missense_Mutation_p.Y85C|AP1M1_ENST00000541844.1_Intron	p.Y85C	NM_032493.3	NP_115882.1	WXS	Illumina GAIIx	Phase_I	Q9BXS5	AP1M1_HUMAN			3	703	+			85					Q4TTY5	Missense_Mutation	SNP	ENST00000291439.3	37	c.254A>G	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.108242	0.56291	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000429941	T;T;T	0.64991	0.46;0.47;-0.13	4.1	4.1	0.47936	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.79805	0.4509	M	0.86805	2.84	0.80722	D	1	D;D;D	0.71674	0.994;0.998;0.998	D;D;D	0.73708	0.928;0.964;0.981	T	0.83123	-0.0117	10	0.72032	D	0.01	-18.4241	11.9469	0.52934	1.0:0.0:0.0:0.0	.	85;85;85	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	C	85	ENSP00000388996:Y85C;ENSP00000291439:Y85C;ENSP00000411498:Y85C	ENSP00000291439:Y85C	Y	+	2	0	AP1M1	16178206	1.000000	0.71417	0.902000	0.35471	0.518000	0.34316	8.716000	0.91420	1.511000	0.48818	0.533000	0.62120	TAT		0.592	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		5	210	0	0	0	1	0	5	210					G	16317206	A	G	16317206	3	3	3	1	0	0	0	0	1	0	0	0	734	449	16	4	264	4	AP1M1	19	16317206	Missense_Mutation	SNP	A	TCGA-N5-A4RD-01A-11D-A28R-08	1499694	16317206	42811777	62	181										
TNFRSF6B	8771	broad.mit.edu	37	chr20	62329741	62329741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	cgaggccccggagggctgggGtccgacaccaagggcgggcc	19	14	0	0			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr20:62329741G>A	ENST00000369996.1	+	3	828	c.728G>A	c.(727-729)gGt>gAt	p.G243D	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	243					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)			GAGGGCTGGGGTCCGACACCA	0.706																																						ENST00000369996.1																			0				central_nervous_system(1)|lung(2)|skin(1)	4						c.(727-729)gGt>gAt		tumor necrosis factor receptor superfamily, member 6b, decoy							9	10	9					20																	62329741		2048	4061	6109	SO:0001583	missense	8771				anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity	g.chr20:62329741G>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.728G>A	20.37:g.62329741G>A	ENSP00000359013:p.Gly243Asp		Somatic				RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	p.G243D	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)		3	828	+	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		243						Missense_Mutation	SNP	ENST00000369996.1	37	c.728G>A	CCDS13532.1	.	.	.	.	.	.	.	.	.	.	G	9.478	1.097402	0.20552	.	.	ENSG00000243509	ENST00000370006;ENST00000369996	T	0.61392	0.11	3.81	-6.19	0.02078	.	.	.	.	.	T	0.31513	0.0799	L	0.29908	0.895	0.09310	N	1	B	0.33694	0.421	B	0.24701	0.055	T	0.13602	-1.0503	9	0.41790	T	0.15	2.3533	1.8071	0.03083	0.3065:0.1863:0.3875:0.1197	.	243	O95407	TNF6B_HUMAN	D	243	ENSP00000359013:G243D	ENSP00000359010:G243D	G	+	2	0	TNFRSF6B	61800185	0.010000	0.17322	0.000000	0.03702	0.054000	0.15201	0.807000	0.27140	-1.172000	0.02762	0.313000	0.20887	GGT		0.706	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			12	8	0	0	0	1	0	12	8					A	62329741	G	A	62329741	3	1	3	1	0	0	0	0	1	0	0	0	16313	1261	44	3	738	3	TNFRSF6B	20	62329741	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08		62329741	695779	63	182										
PRICKLE3	4007	broad.mit.edu	37	chrX	49032095	49032095	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	agtccctggggagcgataaaGatggggagttgaaggtctcc	16	7	1	2			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:49032095G>T	ENST00000376317.3	-	9	1869	c.1775C>A	c.(1774-1776)tCt>tAt	p.S592Y	PRICKLE3_ENST00000538114.1_Missense_Mutation_p.S416Y|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.S511Y|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.S524Y	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	592							zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						GAGCGATAAAGATGGGGAGTT	0.612																																						ENST00000376317.3																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						c.(1774-1776)tCt>tAt		prickle homolog 3 (Drosophila)							71	66	68					X																	49032095		2203	4300	6503	SO:0001583	missense	4007						protein binding|zinc ion binding	g.chrX:49032095G>T	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"LIM domain only 6"	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1775C>A	X.37:g.49032095G>T	ENSP00000365494:p.Ser592Tyr		Somatic				PRICKLE3_ENST00000538114.1_Missense_Mutation_p.S416Y|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.S511Y|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.S524Y	p.S592Y	NM_006150.3	NP_006141.2	WXS	Illumina GAIIx	Phase_I	O43900	PRIC3_HUMAN			9	1869	-			592					B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	ENST00000376317.3	37	c.1775C>A	CCDS14320.1	.	.	.	.	.	.	.	.	.	.	-	10.26	1.301153	0.23650	.	.	ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114	T;T;T;T	0.70282	-0.44;-0.44;-0.45;-0.47	3.84	1.86	0.25419	.	0.647174	0.12864	N	0.432897	T	0.48642	0.1511	N	0.14661	0.345	0.09310	N	1	B;B;B	0.20671	0.019;0.047;0.019	B;B;B	0.17433	0.011;0.018;0.011	T	0.42632	-0.9440	10	0.87932	D	0	-0.0423	3.5027	0.07679	0.1394:0.0:0.6126:0.248	.	554;511;592	B7Z6S4;B7Z8F2;O43900	.;.;PRIC3_HUMAN	Y	592;511;524;416	ENSP00000365494:S592Y;ENSP00000441385:S511Y;ENSP00000446051:S524Y;ENSP00000441743:S416Y	ENSP00000365494:S592Y	S	-	2	0	PRICKLE3	48919039	0.016000	0.18221	0.002000	0.10522	0.004000	0.04260	1.822000	0.39052	0.765000	0.33221	0.455000	0.32223	TCT		0.612	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		159	272	1	0	2.76239e-48	1	3.0319e-48	159	272					T	49032095	G	T	49032095	3	4	3	1	0	0	0	0	1	0	0	0	12500	942	33	2	76	2	PRICKLE3	23	49032095	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08		49032095	106238465	64	183			1	2		3	3	1247	G		3.626738e-06
PRICKLE3	4007	broad.mit.edu	37	chrX	49032106	49032106	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	agcgataaagatggggagttGaaggtctccattgcagtgtc	14	6	1	2			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:49032106G>T	ENST00000376317.3	-	9	1858	c.1764C>A	c.(1762-1764)ttC>ttA	p.F588L	PRICKLE3_ENST00000538114.1_Missense_Mutation_p.F412L|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.F507L|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.F520L	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	588							zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						ATGGGGAGTTGAAGGTCTCCA	0.592																																						ENST00000376317.3																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						c.(1762-1764)ttC>ttA		prickle homolog 3 (Drosophila)							80	74	76					X																	49032106		2203	4300	6503	SO:0001583	missense	4007						protein binding|zinc ion binding	g.chrX:49032106G>T	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"LIM domain only 6"	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1764C>A	X.37:g.49032106G>T	ENSP00000365494:p.Phe588Leu		Somatic				PRICKLE3_ENST00000538114.1_Missense_Mutation_p.F412L|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.F507L|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.F520L	p.F588L	NM_006150.3	NP_006141.2	WXS	Illumina GAIIx	Phase_I	O43900	PRIC3_HUMAN			9	1858	-			588					B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	ENST00000376317.3	37	c.1764C>A	CCDS14320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.547|9.547	1.115012|1.115012	0.20795|0.20795	.|.	.|.	ENSG00000012211|ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114|ENST00000453382	T;T;T;T|.	0.66815|.	-0.23;-0.23;-0.23;-0.21|.	4.14|4.14	-1.09|-1.09	0.09904|0.09904	.|.	1.545990|.	0.04349|.	N|.	0.355367|.	T|T	0.16471|0.16471	0.0396|0.0396	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.24333|0.24333	-1.0163|-1.0163	10|5	0.31617|.	T|.	0.26|.	0.4894|0.4894	2.4967|2.4967	0.04623|0.04623	0.1255:0.4327:0.2757:0.166|0.1255:0.4327:0.2757:0.166	.|.	550;507;588|.	B7Z6S4;B7Z8F2;O43900|.	.;.;PRIC3_HUMAN|.	L|K	588;507;520;412|601	ENSP00000365494:F588L;ENSP00000441385:F507L;ENSP00000446051:F520L;ENSP00000441743:F412L|.	ENSP00000365494:F588L|.	F|Q	-|-	3|1	2|0	PRICKLE3|PRICKLE3	48919050|48919050	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	0.038000|0.038000	0.13862|0.13862	-0.108000|-0.108000	0.12066|0.12066	0.455000|0.455000	0.32223|0.32223	TTC|CAA		0.592	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		166	293	1	0	2.43961e-46	1	2.64536e-46	166	293					T	49032106	G	T	49032106	3	4	3	1	0	0	0	0	1	0	0	0	12500	1281	45	2	87	2	PRICKLE3	23	49032106	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08	11	49032106	106238454	65	184			1	2		3	3	1247	G		3.626738e-06
PRICKLE3	4007	broad.mit.edu	37	chrX	49033341	49033341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	ctgtggaggctgcaagtgggGctgtgacagggccggcactc	18	10	0	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:49033341G>T	ENST00000376317.3	-	8	1260	c.1166C>A	c.(1165-1167)gCc>gAc	p.A389D	PRICKLE3_ENST00000538114.1_Intron|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.A308D|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.A321D	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	389				Missing (in Ref. 7; AAB92357). {ECO:0000305}.			zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						TGCAAGTGGGGCTGTGACAGG	0.647																																						ENST00000376317.3																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						c.(1165-1167)gCc>gAc		prickle homolog 3 (Drosophila)							29	24	26					X																	49033341		2203	4300	6503	SO:0001583	missense	4007						protein binding|zinc ion binding	g.chrX:49033341G>T	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"LIM domain only 6"	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1166C>A	X.37:g.49033341G>T	ENSP00000365494:p.Ala389Asp		Somatic				PRICKLE3_ENST00000538114.1_Intron|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.A308D|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.A321D	p.A389D	NM_006150.3	NP_006141.2	WXS	Illumina GAIIx	Phase_I	O43900	PRIC3_HUMAN			8	1260	-			389	Missing (in Ref. 5; AAB92357).				B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	ENST00000376317.3	37	c.1166C>A	CCDS14320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.502|8.502	0.864517|0.864517	0.17250|0.17250	.|.	.|.	ENSG00000012211|ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849|ENST00000453382	T;T;T|.	0.69175|.	-0.38;-0.38;-0.38|.	4.56|4.56	2.77|2.77	0.32553|0.32553	.|.	0.882556|.	0.09420|.	N|.	0.804561|.	T|T	0.22551|0.22551	0.0544|0.0544	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.33413|.	0.411;0.001;0.309|.	B;B;B|.	0.32465|.	0.146;0.004;0.107|.	T|T	0.18840|0.18840	-1.0324|-1.0324	10|5	0.31617|.	T|.	0.26|.	-13.6595|-13.6595	5.6315|5.6315	0.17514|0.17514	0.2479:0.0:0.7521:0.0|0.2479:0.0:0.7521:0.0	.|.	351;308;389|.	B7Z6S4;B7Z8F2;O43900|.	.;.;PRIC3_HUMAN|.	D|R	389;308;321|401	ENSP00000365494:A389D;ENSP00000441385:A308D;ENSP00000446051:A321D|.	ENSP00000365494:A389D|.	A|S	-|-	2|3	0|2	PRICKLE3|PRICKLE3	48920285|48920285	0.305000|0.305000	0.24481|0.24481	0.002000|0.002000	0.10522|0.10522	0.006000|0.006000	0.05464|0.05464	3.476000|3.476000	0.53143|0.53143	1.049000|1.049000	0.40321|0.40321	0.425000|0.425000	0.28330|0.28330	GCC|AGC		0.647	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		54	76	1	0	5.82388e-19	1	6.02471e-19	54	76					T	49033341	G	T	49033341	3	4	3	1	0	0	0	0	1	0	0	0	12500	1203	42	5	689	5	PRICKLE3	23	49033341	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08	1235	49033341	106237219	66	185			1	2		3	3	1247	G		3.626738e-06
KLHL4	56062	broad.mit.edu	37	chrX	86887422	86887422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	tgcctcccatgtcaacacatCggcacggcttaggtaagagc	10	13	1	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:86887422C>T	ENST00000373119.4	+	7	1682	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	KLHL4_ENST00000373114.4_Missense_Mutation_p.R513W	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	513						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						GTCAACACATCGGCACGGCTT	0.368																																						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.(1537-1539)Cgg>Tgg		kelch-like family member 4							88	77	81					X																	86887422		2203	4300	6503	SO:0001583	missense	0					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86887422C>T	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.1537C>T	X.37:g.86887422C>T	ENSP00000362211:p.Arg513Trp		Somatic				KLHL4_ENST00000373114.4_Missense_Mutation_p.R513W	p.R513W	NM_019117.4	NP_061990.2	WXS	Illumina GAIIx	Phase_I	Q9C0H6	KLHL4_HUMAN			7	1682	+			513					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1537C>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722951	0.68959	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.79653	-1.29;-1.29	5.33	2.86	0.33363	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.93514	0.7930	H	0.99545	4.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93496	0.6840	10	0.87932	D	0	.	10.6306	0.45534	0.6243:0.3757:0.0:0.0	.	513;513	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	W	513	ENSP00000362211:R513W;ENSP00000362206:R513W	ENSP00000362206:R513W	R	+	1	2	KLHL4	86774078	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	3.507000	0.53371	0.673000	0.31224	0.513000	0.50165	CGG		0.368	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			6	18	0	0	0	1	0	6	18					T	86887422	C	T	86887422	3	4	3	1	0	0	0	0	1	0	0	0	8400	875	31	1	1563	1	KLHL4	23	86887422	Missense_Mutation	SNP	C	TCGA-N5-A4RD-01A-11D-A28R-08	37854081	86887422	68383138	67	186										
XKRX	402415	broad.mit.edu	37	chrX	100169415	100169415	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	gctggtgacagcagacacaaTggaggtagtctactacatta	11	8	1	2			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:100169415T>A	ENST00000372956.2	-	3	1866	c.1262A>T	c.(1261-1263)cAt>cTt	p.H421L	XKRX_ENST00000328526.5_Missense_Mutation_p.H434L|XKRX_ENST00000468904.1_3'UTR			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	421						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GCAGACACAATGGAGGTAGTC	0.458																																						ENST00000328526.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						c.(1300-1302)cAt>cTt		XK, Kell blood group complex subunit-related, X-linked							169	148	155					X																	100169415		2203	4300	6503	SO:0001583	missense	402415					integral to membrane|plasma membrane		g.chrX:100169415T>A	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"X Kell blood group precursor-related, X-linked"				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.1262A>T	X.37:g.100169415T>A	ENSP00000362047:p.His421Leu		Somatic				XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000372956.2_Missense_Mutation_p.H421L	p.H434L	NM_212559.2	NP_997724.2	WXS	Illumina GAIIx	Phase_I	Q6PP77	XKR2_HUMAN			3	1866	-			421					B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	ENST00000372956.2	37	c.1301A>T	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	T	15.51	2.854879	0.51376	.	.	ENSG00000182489	ENST00000328526;ENST00000372956	T;T	0.63744	-0.06;-0.06	5.74	5.74	0.90152	.	0.249812	0.47455	D	0.000222	T	0.44582	0.1300	N	0.08118	0	0.41488	D	0.988207	P	0.48764	0.915	P	0.47603	0.551	T	0.41980	-0.9478	10	0.11485	T	0.65	-13.7063	11.0409	0.47831	0.0:0.0:0.153:0.847	.	421	Q6PP77	XKR2_HUMAN	L	434;421	ENSP00000327570:H434L;ENSP00000362047:H421L	ENSP00000327570:H434L	H	-	2	0	XKRX	100056071	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.516000	0.35856	1.921000	0.55644	0.437000	0.28790	CAT		0.458	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		4	193	0	0	0	1	0	4	193					A	100169415	T	A	100169415	3	1	3	1	0	0	0	0	1	0	0	0	17454	1464	51	4	91	4	XKRX	23	100169415	Missense_Mutation	SNP	T	TCGA-N5-A4RD-01A-11D-A28R-08	13281993	100169415	55101145	68	187										
PNMA3	29944	broad.mit.edu	37	chrX	152226673	152226673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.149253731343284	10	0.396754940234723	1.87734487734488	4.73090909090909	1.49172809172809	0.213756898640463	0.761508951406649	0	gctatagctgtggggaagacGgccacatcagggtacagtgc	15	9	1	1			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:152226673G>A	ENST00000370264.4	+	1	1287	c.1261G>A	c.(1261-1263)Ggc>Agc	p.G421S	PNMA3_ENST00000370265.4_Missense_Mutation_p.G421S|PNMA3_ENST00000447306.1_Missense_Mutation_p.G421S			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	421					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGAAGACGGCCACATCAG	0.572																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(1261-1263)Ggc>Agc		paraneoplastic Ma antigen 3							98	101	100					X																	152226673		2203	4300	6503	SO:0001583	missense	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226673G>A	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"Paraneoplastic Ma antigens"	18742	protein-coding gene	gene with protein product	"paraneoplastic cancer-testis-brain antigen"	300675	"paraneoplastic antigen MA3"			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.1261G>A	X.37:g.152226673G>A	ENSP00000359286:p.Gly421Ser		Somatic				PNMA3_ENST00000370265.4_Missense_Mutation_p.G421S|PNMA3_ENST00000370264.4_Missense_Mutation_p.G421S	p.G421S	NM_013364.4	NP_037496.3	WXS	Illumina GAIIx	Phase_I	Q9UL41	PNMA3_HUMAN			2	1597	+	Acute lymphoblastic leukemia(192;6.56e-05)		421					D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	c.1261G>A	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	g	14.48	2.549014	0.45383	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.35605	1.37;1.3;1.3	1.99	1.99	0.26369	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (2);	.	.	.	.	T	0.30727	0.0774	L	0.40543	1.245	0.09310	N	1	D	0.76494	0.999	P	0.45660	0.489	T	0.14035	-1.0487	9	0.66056	D	0.02	.	6.8463	0.23990	0.0:0.0:1.0:0.0	.	421	Q9UL41	PNMA3_HUMAN	S	421	ENSP00000359288:G421S;ENSP00000407642:G421S;ENSP00000359286:G421S	ENSP00000359286:G421S	G	+	1	0	PNMA3	151977329	0.091000	0.21658	0.010000	0.14722	0.221000	0.24807	2.330000	0.43885	1.292000	0.44672	0.287000	0.19450	GGC		0.572	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		74	114	0	0	0	1	0	74	114					A	152226673	G	A	152226673	3	1	3	1	0	0	0	0	1	0	0	0	12164	1116	39	1	1263	1	PNMA3	23	152226673	Missense_Mutation	SNP	G	TCGA-N5-A4RD-01A-11D-A28R-08	52057258	152226673	3043887	69	188										
ARID1A	8289	broad.mit.edu	37	chr1	27057894	27057894	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	cagcagtccccggctccataCccctcccagcagtcgacgac	8	20	0	0			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:27057894C>G	ENST00000324856.7	+	3	1973	c.1602C>G	c.(1600-1602)taC>taG	p.Y534*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Y534*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Y151*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	534					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)		CGGCTCCATACCCCTCCCAGC	0.632			"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.(1600-1602)taC>taG		AT rich interactive domain 1A (SWI-like)							240	236	238					1																	27057894		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27057894C>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.1602C>G	1.37:g.27057894C>G	ENSP00000320485:p.Tyr534*		Somatic				ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Y151*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Y534*	p.Y534*	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	1973	+		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)	534					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.1602C>G	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608750	0.87258	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.44	1.18	0.20946	.	0.167556	0.41938	D	0.000795	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8853	4.9842	0.14182	0.1395:0.4398:0.0:0.4207	.	.	.	.	X	534;534;151	.	ENSP00000320485:Y534X	Y	+	3	2	ARID1A	26930481	0.957000	0.32711	1.000000	0.80357	0.973000	0.67179	0.130000	0.15850	0.395000	0.25257	0.655000	0.94253	TAC		0.632	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		230	311	0	0	0	1	0	230	311					G	27057894	C	G	27057894	4	3	4	1	0	0	0	0	0	1	0	0	913	518	18	5	1612	5	ARID1A	1	27057894	Nonsense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08		27057894	222192727	1	189										
SCP2	6342	broad.mit.edu	37	chr1	53416540	53416540	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	ctactgctttgtttatggccCgccagctgattcagggtggt	12	10	1	1			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:53416540C>G	ENST00000528311.1	+	3	366	c.70C>G	c.(70-72)Cgc>Ggc	p.R24G	SCP2_ENST00000371514.3_Missense_Mutation_p.R105G|SCP2_ENST00000371513.5_Intron|SCP2_ENST00000407246.2_Missense_Mutation_p.R81G|SCP2_ENST00000371509.4_Intron	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GTTTATGGCCCGCCAGCTGAT	0.403																																						ENST00000371514.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(313-315)Cgc>Ggc		sterol carrier protein 2							183	170	174					1																	53416540		2203	4300	6503	SO:0001583	missense	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53416540C>G	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.70C>G	1.37:g.53416540C>G	ENSP00000434132:p.Arg24Gly		Somatic				SCP2_ENST00000371513.5_Intron|SCP2_ENST00000371509.4_Intron|SCP2_ENST00000407246.2_Missense_Mutation_p.R81G|SCP2_ENST00000528311.1_Missense_Mutation_p.R24G	p.R105G	NM_002979.4	NP_002970.2	WXS	Illumina GAIIx	Phase_I	P22307	NLTP_HUMAN			4	481	+			105					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	c.313C>G	CCDS53319.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492241	0.64074	.	.	ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000407246	D;D;D	0.94457	-3.43;-2.64;-3.43	5.61	4.62	0.57501	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.122006	0.53938	D	0.000041	D	0.95513	0.8542	M	0.83312	2.635	0.80722	D	1	B;P	0.39044	0.263;0.656	B;P	0.46685	0.175;0.524	D	0.95823	0.8851	10	0.87932	D	0	-2.59	12.8882	0.58055	0.2553:0.7447:0.0:0.0	.	81;105	C9JC79;P22307	.;NLTP_HUMAN	G	105;24;81	ENSP00000360569:R105G;ENSP00000434132:R24G;ENSP00000384569:R81G	ENSP00000360569:R105G	R	+	1	0	SCP2	53189128	0.994000	0.37717	1.000000	0.80357	0.986000	0.74619	1.938000	0.40203	2.629000	0.89072	0.563000	0.77884	CGC		0.403	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		57	32	0	0	0	1	0	57	32					G	53416540	C	G	53416540	3	3	4	1	0	0	0	0	1	0	0	0	13949	652	23	5	327	5	SCP2	1	53416540	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	26358646	53416540	195834081	2	190										
WDR63	126820	broad.mit.edu	37	chr1	85555917	85555918	+	Splice_Site	INS	-	-	A													0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	taacaatgcatccataaggtINSaaaaaattgcatattaaatt							TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:85555917_85555918insA	ENST00000294664.6	+	8	1037		c.e8+2		WDR63_ENST00000326813.8_Intron|WDR63_ENST00000370596.1_Intron	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63											NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATCCATAAGGTAAAAAATTGCa	0.267																																						ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.e8+2		WD repeat domain 63																																				SO:0001630	splice_region_variant	126820							g.chr1:85555917_85555918insA		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.857+2->A	1.37:g.85555923_85555923dupA			Somatic				WDR63_ENST00000326813.8_Intron|WDR63_ENST00000370596.1_Intron		NM_145172.3	NP_660155.2	WXS	Illumina GAIIx	Phase_I	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	8	1037	+								A8K988|Q96L72|Q96NU4	Splice_Site	INS	ENST00000294664.6	37		CCDS702.1																																																																																				0.267	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172	Intron	17	16						17	16	---	---	---	---	A	85555918	-	A	85555917	8	5	4	1	0	1	1	0	0	0	1	0	17329	1652	57	0	885	0	WDR63	1	85555917	Splice_Site	INS	-	TCGA-N5-A4RF-01A-11D-A28R-08	32139377	85555917	163694704	3	191										
KCND3	3752	broad.mit.edu	37	chr1	112319736	112319736	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	gcgagtagctggcaggttagAattgggcaggtgtgtggtct	18	5	1	1			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:112319736A>G	ENST00000315987.2	-	7	2157	c.1678T>C	c.(1678-1680)Tct>Cct	p.S560P	KCND3_ENST00000302127.4_Missense_Mutation_p.S541P|KCND3_ENST00000369697.1_Missense_Mutation_p.S541P	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	560					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)	GGCAGGTTAGAATTGGGCAGG	0.592																																						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.(1621-1623)Tct>Cct		potassium voltage-gated channel, Shal-related subfamily, member 3							201	179	186					1																	112319736		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112319736A>G	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.1678T>C	1.37:g.112319736A>G	ENSP00000319591:p.Ser560Pro		Somatic				KCND3_ENST00000315987.2_Missense_Mutation_p.S560P|KCND3_ENST00000302127.4_Missense_Mutation_p.S541P	p.S541P			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)	5	1690	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	560					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.1621T>C	CCDS843.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.160793	0.57368	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.84442	-1.85;-1.85;-1.85	5.32	5.32	0.75619	Potassium channel, voltage dependent, Kv4, C-terminal (1);	0.104732	0.64402	D	0.000003	T	0.72162	0.3426	L	0.35341	1.055	0.52099	D	0.999947	B;B	0.14012	0.005;0.009	B;B	0.23852	0.013;0.049	T	0.73369	-0.4004	10	0.72032	D	0.01	.	14.9359	0.70954	1.0:0.0:0.0:0.0	.	541;560	Q14D71;Q9UK17	.;KCND3_HUMAN	P	541;560;541	ENSP00000358711:S541P;ENSP00000319591:S560P;ENSP00000306923:S541P	ENSP00000306923:S541P	S	-	1	0	KCND3	112121259	1.000000	0.71417	0.942000	0.38095	0.944000	0.59088	5.618000	0.67722	2.008000	0.58898	0.528000	0.53228	TCT		0.592	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		15	71	0	0	0	1	0	15	71					G	112319736	A	G	112319736	3	3	4	1	0	0	0	0	1	0	0	0	8029	246	9	4	297	4	KCND3	1	112319736	Missense_Mutation	SNP	A	TCGA-N5-A4RF-01A-11D-A28R-08	26763819	112319736	136930885	4	192										
CD247	919	broad.mit.edu	37	chr1	167400923	167400923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	gaaatcccctggctgttagcGagggggcagggcctgcatgt	16	10	0	0			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:167400923G>A	ENST00000362089.5	-	8	562	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000392122.3_Missense_Mutation_p.R163C			P20963	CD3Z_HUMAN	CD247 molecule	164					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	GGCTGTTAGCGAGGGGGCAGG	0.537																																					Ovarian(192;1815 2869 36877 43334)	ENST00000392122.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6						c.(487-489)Cgc>Tgc		CD247 molecule							159	150	153					1																	167400923		2203	4300	6503	SO:0001583	missense	919				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity	g.chr1:167400923G>A	BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"CD molecules"	1677	protein-coding gene	gene with protein product		186780	"CD3z antigen, zeta polypeptide (TiT3 complex)", "CD247 antigen"	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.490C>T	1.37:g.167400923G>A	ENSP00000354782:p.Arg164Cys		Somatic				CD247_ENST00000362089.5_Missense_Mutation_p.R164C|CD247_ENST00000483825.1_5'UTR	p.R163C	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	WXS	Illumina GAIIx	Phase_I	P20963	CD3Z_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.236)		8	631	-			164					B1AK49|Q5VX13|Q8TAX4	Missense_Mutation	SNP	ENST00000362089.5	37	c.487C>T	CCDS1261.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678846	0.88542	.	.	ENSG00000198821	ENST00000392122;ENST00000362089	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	T	0.69753	0.3146	L	0.48642	1.525	0.30974	N	0.7227589999999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.72880	-0.4158	7	0.87932	D	0	.	17.5362	0.87832	0.0:0.0:1.0:0.0	.	163;164	P20963-3;P20963	.;CD3Z_HUMAN	C	163;164	.	ENSP00000354782:R164C	R	-	1	0	CD247	165667547	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.851000	0.75425	2.608000	0.88229	0.655000	0.94253	CGC		0.537	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083707.1	NM_198053		16	93	0	0	0	1	0	16	93					A	167400923	G	A	167400923	3	1	4	1	0	0	0	0	1	0	0	0	2990	1058	37	1	8	1	CD247	1	167400923	Missense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	55081187	167400923	81849698	5	193										
DARS2	55157	broad.mit.edu	37	chr1	173810047	173810047	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tagaaacacagagattggatTtcttcaagatgcacttagta	8	6	2	3			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:173810047T>G	ENST00000361951.4	+	11	1791	c.1064T>G	c.(1063-1065)tTt>tGt	p.F355C	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	355					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GAGATTGGATTTCTTCAAGAT	0.338																																						ENST00000361951.4																			0				breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30						c.(1063-1065)tTt>tGt		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						123	118	120					1																	173810047		2203	4300	6503	SO:0001583	missense	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173810047T>G	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	25538	protein-coding gene	gene with protein product	"aspartate tRNA ligase 2, mitochondrial"	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.1064T>G	1.37:g.173810047T>G	ENSP00000355086:p.Phe355Cys		Somatic				DARS2_ENST00000239457.5_5'UTR	p.F355C	NM_018122.4	NP_060592.2	WXS	Illumina GAIIx	Phase_I	Q6PI48	SYDM_HUMAN			11	1791	+			355						Missense_Mutation	SNP	ENST00000361951.4	37	c.1064T>G	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.724909	0.68959	.	.	ENSG00000117593	ENST00000361951	D	0.85411	-1.98	5.47	5.47	0.80525	Aminoacyl-tRNA synthetase, class II (1);GAD domain (2);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.146879	0.64402	D	0.000006	D	0.85847	0.5792	M	0.71581	2.175	0.80722	D	1	D	0.63046	0.992	P	0.56127	0.792	D	0.88231	0.2903	10	0.87932	D	0	-10.0738	9.8918	0.41294	0.1524:0.0:0.0:0.8476	.	355	Q6PI48	SYDM_HUMAN	C	355	ENSP00000355086:F355C	ENSP00000355086:F355C	F	+	2	0	DARS2	172076670	1.000000	0.71417	0.941000	0.38009	0.980000	0.70556	4.391000	0.59652	2.090000	0.63153	0.477000	0.44152	TTT		0.338	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122		11	47	0	0	0	1	0	11	47					G	173810047	T	G	173810047	3	3	4	1	0	0	0	0	1	0	0	0	4244	1841	64	4	1106	4	DARS2	1	173810047	Missense_Mutation	SNP	T	TCGA-N5-A4RF-01A-11D-A28R-08	6409124	173810047	75440574	6	194										
FAM71A	149647	broad.mit.edu	37	chr1	212798594	212798594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	accaggcttctgcccctgagGtttgtacggatctctgttca	10	12	3	1			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:212798594G>A	ENST00000294829.3	+	1	806	c.375G>A	c.(373-375)agG>agA	p.R125R	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	125						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TGCCCCTGAGGTTTGTACGGA	0.527																																						ENST00000294829.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-375)agG>agA		family with sequence similarity 71, member A							93	97	96					1																	212798594		2203	4300	6503	SO:0001819	synonymous_variant	149647							g.chr1:212798594G>A		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.375G>A	1.37:g.212798594G>A			Somatic				RP11-338C15.5_ENST00000427949.1_RNA	p.R125R	NM_153606.3	NP_705834.2	WXS	Illumina GAIIx	Phase_I	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	806	+			125					Q5VTZ1	Silent	SNP	ENST00000294829.3	37	c.375G>A	CCDS1507.1																																																																																				0.527	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		19	105	0	0	0	1	0	19	105					A	212798594	G	A	212798594	2	1	4	1	0	0	0	0	0	0	0	1	5615	1252	44	3		3	FAM71A	1	212798594	Silent	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	38988547	212798594	36452027	7	195										
RGS7	6000	broad.mit.edu	37	chr1	241094033	241094033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tgaccataatctgtgttttcCggctcccaacaatttgatgg	8	10	1	2			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:241094033C>T	ENST00000407727.1	-	5	368	c.369G>A	c.(367-369)ccG>ccA	p.P123P	RGS7_ENST00000331110.7_Silent_p.P97P|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366562.4_Silent_p.P123P|RGS7_ENST00000446183.2_Silent_p.P39P|RGS7_ENST00000366565.1_Silent_p.P123P|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366563.1_Silent_p.P123P|RGS7_ENST00000366564.1_Silent_p.P123P			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	123					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CTGTGTTTTCCGGCTCCCAAC	0.388																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(367-369)ccG>ccA		regulator of G-protein signaling 7							127	141	136					1																	241094033		2203	4300	6503	SO:0001819	synonymous_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241094033C>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.369G>A	1.37:g.241094033C>T			Somatic				RGS7_ENST00000366563.1_Silent_p.P123P|RGS7_ENST00000407727.1_Silent_p.P123P|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366562.4_Silent_p.P123P|RGS7_ENST00000366564.1_Silent_p.P123P|RGS7_ENST00000446183.2_Silent_p.P39P|RGS7_ENST00000331110.7_Silent_p.P97P	p.P123P	NM_002924.4	NP_002915.3	WXS	Illumina GAIIx	Phase_I	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		6	750	-		all_cancers(173;0.0131)	123					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	ENST00000407727.1	37	c.369G>A																																																																																					0.388	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		115	41	0	0	0	1	0	115	41					T	241094033	C	T	241094033	2	4	4	1	0	0	0	0	0	0	0	1	13325	639	23	1		1	RGS7	1	241094033	Silent	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	28295439	241094033	8156588	8	196										
TRMT61B	55006	broad.mit.edu	37	chr2	29084138	29084138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	ccagatcatggtggtcttttCgtacctcaaaacttatgact	7	10	3	2			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr2:29084138C>T	ENST00000306108.5	-	3	862	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	TRMT61B_ENST00000484060.1_5'UTR	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	280					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						GTGGTCTTTTCGTACCTCAAA	0.318																																						ENST00000306108.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						c.(838-840)cGa>cAa		tRNA methyltransferase 61 homolog B (S. cerevisiae)							145	126	132					2																	29084138		2203	4300	6503	SO:0001583	missense	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29084138C>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.839G>A	2.37:g.29084138C>T	ENSP00000302801:p.Arg280Gln		Somatic				TRMT61B_ENST00000484060.1_5'UTR	p.R280Q	NM_017910.3	NP_060380.3	WXS	Illumina GAIIx	Phase_I	Q9BVS5	TR61B_HUMAN			3	862	-			280					Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	c.839G>A	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840290	0.71488	.	.	ENSG00000171103	ENST00000306108	T	0.41758	0.99	4.76	3.89	0.44902	.	0.000000	0.64402	D	0.000004	T	0.61899	0.2384	M	0.76433	2.335	0.34406	D	0.695879	D;D	0.89917	1.0;1.0	D;D	0.68483	0.931;0.958	T	0.75340	-0.3352	10	0.87932	D	0	.	12.815	0.57660	0.0:0.92:0.0:0.08	.	280;280	F8WDR2;Q9BVS5	.;TR61B_HUMAN	Q	280	ENSP00000302801:R280Q	ENSP00000302801:R280Q	R	-	2	0	TRMT61B	28937642	1.000000	0.71417	0.986000	0.45419	0.606000	0.37113	3.867000	0.56047	1.026000	0.39733	0.479000	0.44913	CGA		0.318	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		9	33	0	0	0	1	0	9	33					T	29084138	C	T	29084138	3	4	4	1	0	0	0	0	1	0	0	0	16585	884	31	1	614	1	TRMT61B	2	29084138	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08		29084138	214115235	9	197										
FER1L5	90342	broad.mit.edu	37	chr2	97355483	97355483	+	RNA	DEL	A	A	-													0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tgggggcctgccgccatcccAaacacagacgtggtgagcag							TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr2:97355483delA	ENST00000457909.1	+	0	1087							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CCGCCATCCCAAACACAGACG	0.642																																						ENST00000457909.1																			0				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)							17	25	23					2																	97355483		692	1591	2283			90342					integral to membrane		g.chr2:97355483delA	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"fer-1-like 5 (C. elegans)"				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97355483delA			Somatic								WXS	Illumina GAIIx	Phase_I	A0AVI2	FR1L5_HUMAN			0	1087	+								Q17RH2|Q6ZU24	RNA	DEL	ENST00000457909.1	37																																																																																						0.642	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		2	4						2	4	---	---	---	---	-	97355483	A	-	97355483	6	5	4	0	1	1	0	1	0	0	0	0	5822	117	5	0		0	FER1L5	2	97355483	RNA	DEL	A	TCGA-N5-A4RF-01A-11D-A28R-08	68271345	97355483	145843890	10	198										
ZSWIM2	151112	broad.mit.edu	37	chr2	187702052	187702052	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	cttataacacttcccctcaaTtggaaactgtttgcagttat	5	10	1	0			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr2:187702052T>C	ENST00000295131.2	-	5	763	c.724A>G	c.(724-726)Att>Gtt	p.I242V		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	242					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)			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)			TTCCCCTCAATTGGAAACTGT	0.368																																						ENST00000295131.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(724-726)Att>Gtt		zinc finger, SWIM-type containing 2							118	113	115					2																	187702052		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187702052T>C	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.724A>G	2.37:g.187702052T>C	ENSP00000295131:p.Ile242Val		Somatic					p.I242V	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)		5	763	-			242					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.724A>G	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.962304	0.34659	.	.	ENSG00000163012	ENST00000295131	D	0.90324	-2.65	5.77	0.625	0.17665	Zinc finger, ZZ-type (4);	0.128144	0.35585	N	0.003116	D	0.88916	0.6567	M	0.62154	1.92	0.33024	D	0.529283	P	0.47604	0.898	P	0.49192	0.602	D	0.87255	0.2275	10	0.72032	D	0.01	-5.9367	5.3619	0.16093	0.0:0.2204:0.1373:0.6424	.	242	Q8NEG5	ZSWM2_HUMAN	V	242	ENSP00000295131:I242V	ENSP00000295131:I242V	I	-	1	0	ZSWIM2	187410297	0.996000	0.38824	0.987000	0.45799	0.476000	0.33039	1.002000	0.29796	-0.103000	0.12175	-1.178000	0.01721	ATT		0.368	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		69	17	0	0	0	1	0	69	17					C	187702052	T	C	187702052	3	2	4	1	0	0	0	0	1	0	0	0	18256	1493	52	4	1197	4	ZSWIM2	2	187702052	Missense_Mutation	SNP	T	TCGA-N5-A4RF-01A-11D-A28R-08	90346569	187702052	55497321	11	199										
DNAH7	56171	broad.mit.edu	37	chr2	196851841	196851841	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	ttttagctagaagtttcccaCaaataatatctgctcgcttc	5	10	1	1	rs188684073		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr2:196851841C>G	ENST00000312428.6	-	14	1803	c.1703G>C	c.(1702-1704)tGt>tCt	p.C568S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	568	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						AAGTTTCCCACAAATAATATC	0.328																																						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.(1702-1704)tGt>tCt		dynein, axonemal, heavy chain 7							104	97	99					2																	196851841		1814	4076	5890	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196851841C>G	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.1703G>C	2.37:g.196851841C>G	ENSP00000311273:p.Cys568Ser		Somatic					p.C568S	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	Q8WXX0	DYH7_HUMAN			14	1803	-			568			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.1703G>C	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	6.250	0.414304	0.11870	.	.	ENSG00000118997	ENST00000312428	T	0.20332	2.08	5.88	4.97	0.65823	.	0.380215	0.26769	N	0.022599	T	0.13415	0.0325	N	0.16743	0.435	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10474	-1.0628	10	0.15499	T	0.54	.	15.1678	0.72842	0.0:0.7375:0.2625:0.0	.	568	Q8WXX0	DYH7_HUMAN	S	568	ENSP00000311273:C568S	ENSP00000311273:C568S	C	-	2	0	DNAH7	196560086	0.974000	0.33945	1.000000	0.80357	0.941000	0.58515	1.521000	0.35910	2.780000	0.95670	0.655000	0.94253	TGT		0.328	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		6	44	0	0	0	1	0	6	44					G	196851841	C	G	196851841	3	3	4	1	0	0	0	0	1	0	0	0	4608	478	17	5	10579	5	DNAH7	2	196851841	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	9149789	196851841	46347532	12	200										
TTC21A	199223	broad.mit.edu	37	chr3	39150702	39150702	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	aagcctatggagtcctcaaaGaaggtaaggacttggcagtg	13	7	1	1			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:39150702G>T	ENST00000431162.2	+	2	288	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	GORASP1_ENST00000479927.1_5'Flank|TTC21A_ENST00000301819.6_Nonsense_Mutation_p.E52*|GORASP1_ENST00000422110.2_5'Flank|GORASP1_ENST00000319283.3_5'Flank|TTC21A_ENST00000440121.1_Nonsense_Mutation_p.E52*			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	52										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)		AGTCCTCAAAGAAGGTAAGGA	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.(154-156)Gaa>Taa		tetratricopeptide repeat domain 21A							67	67	67					3																	39150702		1951	4128	6079	SO:0001587	stop_gained	199223						binding	g.chr3:39150702G>T	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.154G>T	3.37:g.39150702G>T	ENSP00000398211:p.Glu52*		Somatic				TTC21A_ENST00000440121.1_Nonsense_Mutation_p.E52*|TTC21A_ENST00000431162.2_Nonsense_Mutation_p.E52*	p.E52*	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)	2	331	+			52					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Nonsense_Mutation	SNP	ENST00000431162.2	37	c.154G>T	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225842	0.79576	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	.	.	.	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-15.3358	16.982	0.86331	0.0:0.0:1.0:0.0	.	.	.	.	X	52	.	ENSP00000301819:E52X	E	+	1	0	TTC21A	39125706	0.998000	0.40836	0.969000	0.41365	0.585000	0.36419	2.702000	0.47102	2.618000	0.88619	0.563000	0.77884	GAA		0.502	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		31	4	1	0	3.73148e-12	1	4.09376e-12	31	4					T	39150702	G	T	39150702	4	4	4	1	0	0	0	0	0	1	0	0	16702	943	33	2	160	2	TTC21A	3	39150702	Nonsense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08		39150702	158871728	13	201										
ROBO2	6092	broad.mit.edu	37	chr3	77542517	77542517	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	ggtggaaaaaggatgatgcaGacttgccaagaggaaggtaa	15	4	0	3			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:77542517G>C	ENST00000461745.1	+	5	1690	c.790G>C	c.(790-792)Gac>Cac	p.D264H	ROBO2_ENST00000487694.3_Missense_Mutation_p.D280H|ROBO2_ENST00000332191.8_Missense_Mutation_p.D264H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	264	Ig-like C2-type 3.				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)		GGATGATGCAGACTTGCCAAG	0.418																																						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.(790-792)Gac>Cac		roundabout, axon guidance receptor, homolog 2 (Drosophila)							105	99	101					3																	77542517		1912	4146	6058	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.chr3:77542517G>C	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.790G>C	3.37:g.77542517G>C	ENSP00000417164:p.Asp264His		Somatic				ROBO2_ENST00000332191.8_Missense_Mutation_p.D264H|ROBO2_ENST00000487694.3_Missense_Mutation_p.D280H	p.D264H	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)	5	1690	+			264			Ig-like C2-type 3.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.790G>C	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294980	0.81025	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.68479	-0.33;-0.33;-0.33	5.95	5.95	0.96441	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45867	U	0.000327	T	0.73953	0.3653	N	0.25094	0.71	0.37236	D	0.905916	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.987;0.992	T	0.74748	-0.3560	9	0.52906	T	0.07	.	20.3719	0.98893	0.0:0.0:1.0:0.0	.	280;264;264	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	H	280;280;280;264;264	ENSP00000417335:D280H;ENSP00000417164:D264H;ENSP00000327536:D264H	ENSP00000327536:D264H	D	+	1	0	ROBO2	77625207	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.796000	0.99103	2.826000	0.97356	0.491000	0.48974	GAC		0.418	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		43	6	0	0	0	1	0	43	6					C	77542517	G	C	77542517	3	2	4	1	0	0	0	0	1	0	0	0	13529	942	33	2	810	2	ROBO2	3	77542517	Missense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	38391815	77542517	120479913	14	202										
ALCAM	214	broad.mit.edu	37	chr3	105258906	105258906	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	cactcttaaatgcttagggaAtggcaaccctcccccagagg	9	13	1	1			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:105258906A>G	ENST00000306107.5	+	7	1318	c.818A>G	c.(817-819)aAt>aGt	p.N273S	ALCAM_ENST00000472644.2_Missense_Mutation_p.N273S|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Missense_Mutation_p.N222S	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	273	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						TGCTTAGGGAATGGCAACCCT	0.398																																						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.(817-819)aAt>aGt		activated leukocyte cell adhesion molecule							149	140	143					3																	105258906		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105258906A>G	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.818A>G	3.37:g.105258906A>G	ENSP00000305988:p.Asn273Ser		Somatic				ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000486979.2_Missense_Mutation_p.N222S|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.N273S	p.N273S	NM_001627.3	NP_001618.2	WXS	Illumina GAIIx	Phase_I	Q13740	CD166_HUMAN			7	1318	+			273			Ig-like C2-type 1.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.818A>G	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012452	0.75046	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979	T;T;T	0.11169	2.8;2.8;2.8	6.16	6.16	0.99307	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.084904	0.85682	D	0.000000	T	0.14313	0.0346	N	0.17082	0.46	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.53809	0.735;0.735	T	0.07121	-1.0789	10	0.38643	T	0.18	-29.0577	16.8061	0.85666	1.0:0.0:0.0:0.0	.	273;273	B4DTU0;Q13740	.;CD166_HUMAN	S	273;273;222	ENSP00000305988:N273S;ENSP00000419236:N273S;ENSP00000418213:N222S	ENSP00000305988:N273S	N	+	2	0	ALCAM	106741596	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.414000	0.73318	2.367000	0.80283	0.528000	0.53228	AAT		0.398	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		40	8	0	0	0	1	0	40	8					G	105258906	A	G	105258906	3	3	4	1	0	0	0	0	1	0	0	0	487	101	4	4	844	4	ALCAM	3	105258906	Missense_Mutation	SNP	A	TCGA-N5-A4RF-01A-11D-A28R-08	27716389	105258906	92763524	15	203										
TNIK	23043	broad.mit.edu	37	chr3	170802094	170802094	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tttggcctgttcttgcctaaGaagttcgctagtaaacagag	10	8	1	2			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:170802094G>T	ENST00000436636.2	-	26	3363	c.3019C>A	c.(3019-3021)Ctt>Att	p.L1007I	TNIK_ENST00000284483.8_Missense_Mutation_p.L999I|TNIK_ENST00000357327.5_Missense_Mutation_p.L978I|TNIK_ENST00000475336.1_Missense_Mutation_p.L915I|TNIK_ENST00000341852.6_Missense_Mutation_p.L923I|TNIK_ENST00000470834.1_Missense_Mutation_p.L970I|TNIK_ENST00000460047.1_Missense_Mutation_p.L944I|TNIK_ENST00000488470.1_Missense_Mutation_p.L952I|TNIK_ENST00000538048.1_Missense_Mutation_p.L959I|TNIK_ENST00000369326.5_Missense_Mutation_p.L985I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1007	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCTTGCCTAAGAAGTTCGCTA	0.398																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(3019-3021)Ctt>Att		TRAF2 and NCK interacting kinase							140	135	137					3																	170802094		1847	4097	5944	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170802094G>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3019C>A	3.37:g.170802094G>T	ENSP00000399511:p.Leu1007Ile		Somatic				TNIK_ENST00000369326.5_Missense_Mutation_p.L985I|TNIK_ENST00000470834.1_Missense_Mutation_p.L970I|TNIK_ENST00000460047.1_Missense_Mutation_p.L944I|TNIK_ENST00000357327.5_Missense_Mutation_p.L978I|TNIK_ENST00000341852.6_Missense_Mutation_p.L923I|TNIK_ENST00000538048.1_Missense_Mutation_p.L959I|TNIK_ENST00000488470.1_Missense_Mutation_p.L952I|TNIK_ENST00000284483.8_Missense_Mutation_p.L999I|TNIK_ENST00000475336.1_Missense_Mutation_p.L915I	p.L1007I	NM_015028.2	NP_055843.1	WXS	Illumina GAIIx	Phase_I	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		26	3363	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1007			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.3019C>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696725	0.48202	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.73047	-0.71;-0.69;-0.7;-0.71;-0.71;-0.71;-0.71;-0.71;-0.7;-0.71	5.95	5.08	0.68730	.	0.129559	0.53938	D	0.000047	T	0.69628	0.3132	M	0.61703	1.905	0.54753	D	0.999987	B;B;B;B;B;B;B;B	0.29301	0.241;0.001;0.241;0.241;0.148;0.002;0.241;0.189	B;B;B;B;B;B;B;B	0.33799	0.135;0.005;0.135;0.135;0.17;0.008;0.135;0.082	T	0.66308	-0.5956	10	0.28530	T	0.3	.	15.0248	0.71659	0.0679:0.0:0.9321:0.0	.	915;970;944;923;999;978;952;1007	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	I	1007;985;959;923;999;915;978;944;952;970	ENSP00000399511:L1007I;ENSP00000358332:L985I;ENSP00000443278:L959I;ENSP00000345352:L923I;ENSP00000284483:L999I;ENSP00000418156:L915I;ENSP00000349880:L978I;ENSP00000418916:L944I;ENSP00000418378:L952I;ENSP00000419990:L970I	ENSP00000284483:L999I	L	-	1	0	TNIK	172284788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.224000	0.78042	1.518000	0.48934	0.650000	0.86243	CTT		0.398	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		67	16	1	0	9.2564e-22	1	1.05654e-21	67	16					T	170802094	G	T	170802094	3	4	4	1	0	0	0	0	1	0	0	0	16328	942	33	2	1095	2	TNIK	3	170802094	Missense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	65543188	170802094	27220336	16	204										
PIK3CA	5290	broad.mit.edu	37	chr3	178916930	178916930	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	aaaagtaattgaaccagtagGcaaccgtgaagaaaagatcc	9	7	0	4			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:178916930G>T	ENST00000263967.3	+	2	474	c.317G>T	c.(316-318)gGc>gTc	p.G106V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	106			G -> V (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity).		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.G106V(6)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.G106A(1)|p.E103_G106>D(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)	GAACCAGTAGGCAACCGTGAA	0.348		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"		12	Substitution - Missense(7)|Deletion - In frame(4)|Complex - deletion inframe(1)	p.G106V(6)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.G106A(1)|p.E103_G106>D(1)	lung(4)|large_intestine(3)|breast(3)|endometrium(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.(316-318)gGc>gTc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							90	86	87					3																	178916930		1825	4072	5897	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.chr3:178916930G>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.317G>T	3.37:g.178916930G>T	ENSP00000263967:p.Gly106Val	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.G106V	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)		2	474	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		106		G -> V (in cancer; shows an increase in lipid kinase activity).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.317G>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216426	0.79352	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74421	0.67;-0.84	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.86928	0.6051	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86624	0.1881	9	.	.	.	-7.432	19.4271	0.94746	0.0:0.0:1.0:0.0	.	106	P42336	PK3CA_HUMAN	V	106	ENSP00000263967:G106V;ENSP00000417479:G106V	.	G	+	2	0	PIK3CA	180399624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.563000	0.82314	2.584000	0.87258	0.555000	0.69702	GGC		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			33	11	1	0	1.26612e-14	1	1.40266e-14	33	11					T	178916930	G	T	178916930	3	4	4	1	0	0	0	0	1	0	0	0	11922	1203	42	5	319	5	PIK3CA	3	178916930	Missense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	8114836	178916930	19105500	17	205										
RG9MTD2	93587	broad.mit.edu	37	chr4	100470301	100470301	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	attttccttatcctgcttttCttcatgtggtgaatctagtt	6	8	3	1			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr4:100470301C>G	ENST00000273962.3	-	8	1276	c.964G>C	c.(964-966)Gaa>Caa	p.E322Q	TRMT10A_ENST00000394876.2_Missense_Mutation_p.E322Q|TRMT10A_ENST00000394877.3_Missense_Mutation_p.E322Q	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	322					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										TCCTGCTTTTCTTCATGTGGT	0.403																																						ENST00000273962.3																			0											c.(964-966)Gaa>Caa		tRNA methyltransferase 10 homolog A (S. cerevisiae)							226	201	210					4																	100470301		2203	4300	6503	SO:0001583	missense	93587							g.chr4:100470301C>G	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"RNA (guanine-9-) methyltransferase domain containing 2"	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.964G>C	4.37:g.100470301C>G	ENSP00000273962:p.Glu322Gln		Somatic				TRMT10A_ENST00000394876.2_Missense_Mutation_p.E322Q|TRMT10A_ENST00000394877.3_Missense_Mutation_p.E322Q	p.E322Q	NM_152292.4	NP_689505.1	WXS	Illumina GAIIx	Phase_I					8	1276	-								B2R8X7|Q9Y2T9	Missense_Mutation	SNP	ENST00000273962.3	37	c.964G>C	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671730	0.47781	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876	T;T;T	0.18338	2.22;2.22;2.22	6.07	6.07	0.98685	.	1.915940	0.02080	N	0.052249	T	0.18215	0.0437	L	0.29908	0.895	0.09310	N	1	P	0.39391	0.671	B	0.32289	0.143	T	0.52132	-0.8616	10	0.26408	T	0.33	-9.7153	18.1532	0.89682	0.0:1.0:0.0:0.0	.	322	Q8TBZ6	RG9D2_HUMAN	Q	322	ENSP00000378343:E322Q;ENSP00000273962:E322Q;ENSP00000378342:E322Q	ENSP00000273962:E322Q	E	-	1	0	RG9MTD2	100689324	0.032000	0.19561	0.024000	0.17045	0.116000	0.19942	1.077000	0.30741	2.885000	0.99019	0.655000	0.94253	GAA		0.403	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292		10	61	0	0	0	1	0	10	61					G	100470301	C	G	100470301	3	3	4	1	0	0	0	0	1	0	0	0	13287	922	32	2	59	2	RG9MTD2	4	100470301	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08		100470301	90683975	18	206										
ADCY2	108	broad.mit.edu	37	chr5	7727300	7727300	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	cgggccacggcactgccagcGttcaagtattatgtgacttg	12	11	1	1			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:7727300G>A	ENST00000338316.4	+	14	1886	c.1797G>A	c.(1795-1797)gcG>gcA	p.A599A	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.A419A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	599					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						CACTGCCAGCGTTCAAGTATT	0.502																																						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.(1795-1797)gcG>gcA		adenylate cyclase 2 (brain)							191	168	176					5																	7727300		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.chr5:7727300G>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.1797G>A	5.37:g.7727300G>A			Somatic				RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.A419A	p.A599A	NM_020546.2	NP_065433.2	WXS	Illumina GAIIx	Phase_I	Q08462	ADCY2_HUMAN			14	1886	+			599					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.1797G>A	CCDS3872.2																																																																																				0.502	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		25	44	0	0	0	1	0	25	44					A	7727300	G	A	7727300	2	1	4	1	0	0	0	0	0	0	0	1	294	1132	40	1		1	ADCY2	5	7727300	Silent	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08		7727300	173187960	19	207										
SEMA5A	9037	broad.mit.edu	37	chr5	9052093	9052093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	ctggcgggcgcggacttggaCgccagaggcttcacactcag	15	13	2	1	rs545915512		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:9052093C>T	ENST00000382496.5	-	20	3402	c.2737G>A	c.(2737-2739)Gtc>Atc	p.V913I	MIR4636_ENST00000582271.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	913	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CGGACTTGGACGCCAGAGGCT	0.602													C|||	1	0.000199681	0	0.0014	5008	,	,		12245	0		0	False		,,,				2504	0					ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(2737-2739)Gtc>Atc		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							32	35	34					5																	9052093		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9052093C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2737G>A	5.37:g.9052093C>T	ENSP00000371936:p.Val913Ile		Somatic					p.V913I	NM_003966.2	NP_003957.2	WXS	Illumina GAIIx	Phase_I	Q13591	SEM5A_HUMAN			20	3402	-			913			TSP type-1 7.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2737G>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	0.441	-0.898327	0.02472	.	.	ENSG00000112902	ENST00000382496	T	0.50548	0.74	5.12	0.544	0.17185	.	0.852047	0.10742	N	0.639269	T	0.26376	0.0644	N	0.17723	0.515	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21724	-1.0237	10	0.18710	T	0.47	.	4.5587	0.12149	0.1498:0.425:0.0:0.4252	.	913	Q13591	SEM5A_HUMAN	I	913	ENSP00000371936:V913I	ENSP00000371936:V913I	V	-	1	0	SEMA5A	9105093	0.000000	0.05858	0.049000	0.19019	0.002000	0.02628	-0.780000	0.04654	0.097000	0.17492	-0.140000	0.14226	GTC		0.602	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			6	16	0	0	0	1	0	6	16					T	9052093	C	T	9052093	3	4	4	1	0	0	0	0	1	0	0	0	14052	536	19	1	503	1	SEMA5A	5	9052093	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	1324793	9052093	171863167	20	208										
SEMA5A	9037	broad.mit.edu	37	chr5	9202131	9202131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	gaagaaagtactctgcaattCgttgtagtaaaaggggactt	11	5	1	1	rs368799668		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:9202131C>T	ENST00000382496.5	-	9	1533	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	290	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.E290K(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTCTGCAATTCGTTGTAGTAA	0.478																																						ENST00000382496.5																			1	Substitution - Missense(1)	p.E290K(1)	skin(1)	biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(868-870)Gaa>Aaa		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	74	71	72		868	5.8	0.9	5		72	0,8600		0,0,4300	no	missense	SEMA5A	NM_003966.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	290/1075	9202131	1,13005	2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9202131C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.868G>A	5.37:g.9202131C>T	ENSP00000371936:p.Glu290Lys		Somatic					p.E290K	NM_003966.2	NP_003957.2	WXS	Illumina GAIIx	Phase_I	Q13591	SEM5A_HUMAN			9	1533	-			290			Sema.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.868G>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	34	5.365314	0.95877	2.27E-4	0.0	ENSG00000112902	ENST00000382496	T	0.13196	2.61	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.29028	0.0721	M	0.84156	2.68	0.80722	D	1	P	0.34522	0.455	B	0.40565	0.333	T	0.02567	-1.1140	10	0.59425	D	0.04	.	17.6206	0.88080	0.0:1.0:0.0:0.0	.	290	Q13591	SEM5A_HUMAN	K	290	ENSP00000371936:E290K	ENSP00000371936:E290K	E	-	1	0	SEMA5A	9255131	1.000000	0.71417	0.925000	0.36789	0.879000	0.50718	7.290000	0.78711	2.760000	0.94817	0.655000	0.94253	GAA		0.478	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			20	40	0	0	0	1	0	20	40					T	9202131	C	T	9202131	3	4	4	1	0	0	0	0	1	0	0	0	14052	893	31	1	2416	1	SEMA5A	5	9202131	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	150038	9202131	171713129	21	209										
CMYA5	202333	broad.mit.edu	37	chr5	79025483	79025483	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tagaggataaagtaaaagagGtttttccaccctggagaggc	12	6	0	3			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:79025483G>T	ENST00000446378.2	+	2	926	c.895G>T	c.(895-897)Gtt>Ttt	p.V299F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	299					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)		AGTAAAAGAGGTTTTTCCACC	0.408																																						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.(895-897)Gtt>Ttt		cardiomyopathy associated 5							79	72	74					5																	79025483		1874	4105	5979	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79025483G>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.895G>T	5.37:g.79025483G>T	ENSP00000394770:p.Val299Phe		Somatic					p.V299F	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	926	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	299					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.895G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	5.548	0.286042	0.10513	.	.	ENSG00000164309	ENST00000446378	T	0.38887	1.11	5.79	0.586	0.17434	.	1.046890	0.07554	N	0.915946	T	0.20088	0.0483	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23547	-1.0185	10	0.56958	D	0.05	.	1.2709	0.02021	0.2443:0.4108:0.1277:0.2172	.	299	Q8N3K9	CMYA5_HUMAN	F	299	ENSP00000394770:V299F	ENSP00000394770:V299F	V	+	1	0	CMYA5	79061239	0.000000	0.05858	0.018000	0.16275	0.168000	0.22595	-0.526000	0.06207	0.063000	0.16370	-0.165000	0.13383	GTT		0.408	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		16	44	1	0	0.0438628	1	0.0442544	16	44					T	79025483	G	T	79025483	3	4	4	1	0	0	0	0	1	0	0	0	3592	1261	44	5	901	5	CMYA5	5	79025483	Missense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	69823352	79025483	101889777	22	210										
PCDHA2	56146	broad.mit.edu	37	chr5	140176607	140176607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tcgcgggcgtgggtgggcgcCgcgggctcagaggctacgct	20	12	1	1			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:140176607C>T	ENST00000526136.1	+	1	2058	c.2058C>T	c.(2056-2058)gcC>gcT	p.A686A	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.A686A|PCDHA2_ENST00000378132.1_Silent_p.A686A	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	686					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)			GGGTGGGCGCCGCGGGCTCAG	0.642																																						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.(2056-2058)gcC>gcT									73	76	75					5																	140176607		2203	4298	6501	SO:0001819	synonymous_variant	0							g.chr5:140176607C>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.2058C>T	5.37:g.140176607C>T			Somatic				PCDHA2_ENST00000378132.1_Silent_p.A686A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.A686A	p.A686A	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	2058	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.2058C>T	CCDS54914.1																																																																																				0.642	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		66	113	0	0	0	1	0	66	113					T	140176607	C	T	140176607	2	4	4	1	0	0	0	0	0	0	0	1	11533	639	23	1		1	PCDHA2	5	140176607	Silent	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	61151124	140176607	40738653	23	211										
PCDHA7	56141	broad.mit.edu	37	chr5	140216127	140216127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	taccctgctgctgtacacggCgttgcggtgctcagcgccgt	13	14	1	0			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:140216127C>T	ENST00000525929.1	+	1	2159	c.2159C>T	c.(2158-2160)gCg>gTg	p.A720V	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A720V|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	720					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)			CTGTACACGGCGTTGCGGTGC	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.(2158-2160)gCg>gTg									101	85	90					5																	140216127		2203	4300	6503	SO:0001583	missense	0							g.chr5:140216127C>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.2159C>T	5.37:g.140216127C>T	ENSP00000436426:p.Ala720Val		Somatic				PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A720V	p.A720V	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	2159	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.2159C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183837	0.38609	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.16597	2.33;2.33	3.57	2.69	0.31865	.	0.289408	0.17547	U	0.170301	T	0.18635	0.0447	M	0.70842	2.15	0.25125	N	0.990613	B;B	0.24258	0.1;0.061	B;B	0.20577	0.03;0.021	T	0.14924	-1.0455	10	0.52906	T	0.07	.	7.5321	0.27689	0.0:0.7964:0.0:0.2036	.	720;720	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	V	720	ENSP00000436426:A720V;ENSP00000367365:A720V	ENSP00000367365:A720V	A	+	2	0	PCDHA7	140196311	0.000000	0.05858	0.948000	0.38648	0.598000	0.36846	-0.222000	0.09190	0.819000	0.34492	0.462000	0.41574	GCG		0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		70	45	0	0	0	1	0	70	45					T	140216127	C	T	140216127	3	4	4	1	0	0	0	0	1	0	0	0	11538	768	27	1	2161	1	PCDHA7	5	140216127	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	39520	140216127	40699133	24	212										
GRIA1	2890	broad.mit.edu	37	chr5	153149914	153149914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	aaccctgtgacaccatgaagGtgggaggtaacttggattcc	12	9	0	2			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:153149914G>A	ENST00000285900.5	+	13	2552	c.2209G>A	c.(2209-2211)Gtg>Atg	p.V737M	GRIA1_ENST00000340592.5_Missense_Mutation_p.V737M|GRIA1_ENST00000518783.1_Missense_Mutation_p.V747M|GRIA1_ENST00000518142.1_Missense_Mutation_p.V657M|GRIA1_ENST00000521843.2_Missense_Mutation_p.V668M|GRIA1_ENST00000448073.4_Missense_Mutation_p.V747M	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	737					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)	CACCATGAAGGTGGGAGGTAA	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.(2209-2211)Gtg>Atg		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						104	89	94					5																	153149914		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153149914G>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.2209G>A	5.37:g.153149914G>A	ENSP00000285900:p.Val737Met		Somatic				GRIA1_ENST00000340592.5_Missense_Mutation_p.V737M|GRIA1_ENST00000518783.1_Missense_Mutation_p.V747M|GRIA1_ENST00000521843.2_Missense_Mutation_p.V668M|GRIA1_ENST00000518142.1_Missense_Mutation_p.V657M|GRIA1_ENST00000448073.4_Missense_Mutation_p.V747M	p.V737M	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)		13	2552	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	737					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2209G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375003	0.82573	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.37	5.37	0.77165	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	H	0.95224	3.64	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	D;D;D;D;D	0.87578	0.97;0.97;0.998;0.974;0.997	D	0.83842	0.0258	10	0.87932	D	0	.	18.1529	0.89679	0.0:0.0:1.0:0.0	.	747;747;657;737;737	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	M	737;737;657;691;737;670;668;747;747	ENSP00000285900:V737M;ENSP00000427920:V657M;ENSP00000339343:V737M;ENSP00000427864:V670M;ENSP00000442108:V668M;ENSP00000428994:V747M;ENSP00000415569:V747M	ENSP00000285900:V737M	V	+	1	0	GRIA1	153130107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.637000	0.98443	2.521000	0.84997	0.650000	0.86243	GTG		0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			22	41	0	0	0	1	0	22	41					A	153149914	G	A	153149914	3	1	4	1	0	0	0	0	1	0	0	0	6776	1261	44	3	2259	3	GRIA1	5	153149914	Missense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	12933787	153149914	27765346	25	213										
MOCS1	4337	broad.mit.edu	37	chr6	39883911	39883911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	ctgaagctggggcagtagccGggccaggttgatgccattgg	17	9	0	2			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr6:39883911G>A	ENST00000340692.5	-	4	487	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	MOCS1_ENST00000373186.4_Missense_Mutation_p.R162W|MOCS1_ENST00000432280.2_Missense_Mutation_p.R133W|MOCS1_ENST00000425303.2_Missense_Mutation_p.R162W|MOCS1_ENST00000308559.7_Missense_Mutation_p.R162W|MOCS1_ENST00000373195.3_Missense_Mutation_p.R75W|MOCS1_ENST00000373188.2_Missense_Mutation_p.R162W|MOCS1_ENST00000373175.4_Missense_Mutation_p.R133W			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	162	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)					GGCAGTAGCCGGGCCAGGTTG	0.572																																					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.(484-486)Cgg>Tgg		molybdenum cofactor synthesis 1							69	51	57					6																	39883911		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.chr6:39883911G>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.484C>T	6.37:g.39883911G>A	ENSP00000344794:p.Arg162Trp		Somatic				MOCS1_ENST00000432280.2_Missense_Mutation_p.R133W|MOCS1_ENST00000340692.5_Missense_Mutation_p.R162W|MOCS1_ENST00000373175.4_Missense_Mutation_p.R133W|MOCS1_ENST00000425303.2_Missense_Mutation_p.R162W|MOCS1_ENST00000373188.2_Missense_Mutation_p.R162W|MOCS1_ENST00000373195.3_Missense_Mutation_p.R75W|MOCS1_ENST00000308559.7_Missense_Mutation_p.R162W	p.R162W	NM_005943.5	NP_005934.2	WXS	Illumina GAIIx	Phase_I	Q9NZB8	MOCS1_HUMAN			3	621	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		162			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.484C>T		.	.	.	.	.	.	.	.	.	.	G	21.6	4.169220	0.78339	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	T;T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.67	5.67	0.87782	Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);Radical SAM (1);	0.053642	0.64402	D	0.000001	D	0.92564	0.7638	H	0.97682	4.055	0.52501	D	0.999959	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.996;1.0;0.999;0.996	D	0.94426	0.7645	9	.	.	.	-27.5143	14.2318	0.65898	0.0:0.0:0.8132:0.1868	.	162;162;162;162;162	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	W	162;162;133;162;75;162;162;133	ENSP00000362282:R162W;ENSP00000309843:R162W;ENSP00000362270:R133W;ENSP00000362284:R162W;ENSP00000362291:R75W;ENSP00000344794:R162W;ENSP00000416478:R162W;ENSP00000410809:R133W	.	R	-	1	2	MOCS1	39991889	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.305000	0.43664	2.675000	0.91044	0.650000	0.86243	CGG		0.572	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		15	30	0	0	0	1	0	15	30					A	39883911	G	A	39883911	3	1	4	1	0	0	0	0	1	0	0	0	9699	1115	39	1	701	1	MOCS1	6	39883911	Missense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08		39883911	131231156	26	214										
EFHC1	114327	broad.mit.edu	37	chr6	52318996	52318996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	ggatgatacggtggaaattcGagaggtccacgaacggaatg	15	6	0	2			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr6:52318996G>A	ENST00000371068.5	+	5	930	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	EFHC1_ENST00000433625.2_Missense_Mutation_p.R185Q|EFHC1_ENST00000538167.1_Missense_Mutation_p.R257Q	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	276	DM10 2. {ECO:0000255|PROSITE- ProRule:PRU00665}.					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)					GTGGAAATTCGAGAGGTCCAC	0.443																																						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.(826-828)cGa>cAa		EF-hand domain (C-terminal) containing 1							182	165	170					6																	52318996		2203	4300	6503	SO:0001583	missense	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52318996G>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.827G>A	6.37:g.52318996G>A	ENSP00000360107:p.Arg276Gln		Somatic				EFHC1_ENST00000433625.2_Missense_Mutation_p.R185Q|EFHC1_ENST00000538167.1_Missense_Mutation_p.R257Q	p.R276Q	NM_018100.3	NP_060570.2	WXS	Illumina GAIIx	Phase_I	Q5JVL4	EFHC1_HUMAN			5	930	+	Lung NSC(77;0.109)		276			DM10 2.		B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	37	c.827G>A	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790737	0.70452	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	T;T;T	0.44482	0.92;0.92;0.92	5.87	5.0	0.66597	Uncharacterised domain DM10 (2);	0.250637	0.40469	N	0.001087	T	0.34019	0.0883	M	0.88450	2.955	0.38432	D	0.946474	P;B;B	0.36683	0.565;0.438;0.234	B;B;B	0.31751	0.099;0.135;0.126	T	0.39121	-0.9629	10	0.29301	T	0.29	-0.2299	14.7804	0.69764	0.069:0.0:0.931:0.0	.	257;185;276	F5GZD8;B7Z2S4;Q5JVL4	.;.;EFHC1_HUMAN	Q	276;185;257	ENSP00000360107:R276Q;ENSP00000416492:R185Q;ENSP00000444521:R257Q	ENSP00000360107:R276Q	R	+	2	0	EFHC1	52426955	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.764000	0.55264	1.491000	0.48482	0.591000	0.81541	CGA		0.443	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		26	92	0	0	0	1	0	26	92					A	52318996	G	A	52318996	3	1	4	1	0	0	0	0	1	0	0	0	4948	1058	37	1	855	1	EFHC1	6	52318996	Missense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	12435085	52318996	118796071	27	215										
SYNE1	23345	broad.mit.edu	37	chr6	152706811	152706812	+	Frame_Shift_Ins	INS	-	-	A													0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tctgttcatttcctgaccttINSaatttttgataactttttct							TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr6:152706811_152706812insA	ENST00000367255.5	-	55	9250_9251	c.8649_8650insT	c.(8647-8652)attaagfs	p.K2884fs	SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.K2891fs|SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.K2923fs|SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.K2884fs|SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.K2891fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2884					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)		TTCCTGACCTTAATTTTTGATA	0.356										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.(8647-8652)ataggafs		spectrin repeat containing, nuclear envelope 1																																				SO:0001589	frameshift_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152706811_152706812insA	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.8650dupT	6.37:g.152706813_152706813dupA	ENSP00000356224:p.Lys2884fs	HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.G2891fs|SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.G2884fs|SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.G2923fs|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.G2891fs	p.G2884fs	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)	55	9250_9251	-		Ovarian(120;0.0955)	2884					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Frame_Shift_Ins	INS	ENST00000367255.5	37	c.8649_8650insT	CCDS5236.2																																																																																				0.356	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		24	44						24	44	---	---	---	---	A	152706812	-	A	152706811	7	5	4	1	0	1	1	0	0	0	0	0	15460	1763	61	0	18184	0	SYNE1	6	152706811	Frame_Shift_Ins	INS	-	TCGA-N5-A4RF-01A-11D-A28R-08	100387815	152706811	18408256	28	216										
ICA1	3382	broad.mit.edu	37	chr7	8258022	8258022	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	aatagtgctcctctatattcCgtcctgcactgttccatgcg	7	13	1	0			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:8258022C>T	ENST00000402384.3	-	6	758	c.492G>A	c.(490-492)acG>acA	p.T164T	ICA1_ENST00000407906.1_Silent_p.T164T|ICA1_ENST00000422063.2_Silent_p.T164T|ICA1_ENST00000265577.7_Silent_p.T163T|ICA1_ENST00000476942.1_5'Flank|ICA1_ENST00000396675.3_Silent_p.T164T|ICA1_ENST00000401396.1_Silent_p.T152T|ICA1_ENST00000406470.2_Silent_p.T164T			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	164	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CTCTATATTCCGTCCTGCACT	0.478																																						ENST00000402384.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23						c.(490-492)acG>acA		islet cell autoantigen 1, 69kDa							194	169	178					7																	8258022		2203	4300	6503	SO:0001819	synonymous_variant	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8258022C>T		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"islet cell autoantigen 1 (69kD)"			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.492G>A	7.37:g.8258022C>T			Somatic				ICA1_ENST00000406470.2_Silent_p.T164T|ICA1_ENST00000401396.1_Silent_p.T152T|ICA1_ENST00000396675.3_Silent_p.T164T|ICA1_ENST00000407906.1_Silent_p.T164T|ICA1_ENST00000422063.2_Silent_p.T164T|ICA1_ENST00000265577.7_Silent_p.T163T	p.T164T			WXS	Illumina GAIIx	Phase_I	Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	6	758	-		Ovarian(82;0.0612)	164			AH.		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Silent	SNP	ENST00000402384.3	37	c.492G>A	CCDS34602.1																																																																																				0.478	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		40	72	0	0	0	1	0	40	72					T	8258022	C	T	8258022	2	4	4	1	0	0	0	0	0	0	0	1	7486	639	23	1		1	ICA1	7	8258022	Silent	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08		8258022	150880641	29	217										
C7orf52	375607	broad.mit.edu	37	chr7	100815486	100815486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	aggaagagctggcacatgacGttgaggccaacgaggcgcgg	17	9	0	3			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:100815486G>A	ENST00000300303.2	-	4	1222	c.984C>T	c.(982-984)aaC>aaT	p.N328N	NAT16_ENST00000455377.1_Silent_p.N328N	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	328							N-acetyltransferase activity (GO:0008080)										GGCACATGACGTTGAGGCCAA	0.642																																						ENST00000300303.2																			0											c.(982-984)aaC>aaT		N-acetyltransferase 16 (GCN5-related, putative)							23	23	23					7																	100815486		2197	4294	6491	SO:0001819	synonymous_variant	375607						N-acetyltransferase activity	g.chr7:100815486G>A	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"chromosome 7 open reading frame 52"	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.984C>T	7.37:g.100815486G>A			Somatic				NAT16_ENST00000455377.1_Silent_p.N328N	p.N328N	NM_198571.2	NP_940973.2	WXS	Illumina GAIIx	Phase_I	Q8N8M0	CG052_HUMAN			4	1222	-			328					B3KRS2|Q8NDR1	Silent	SNP	ENST00000300303.2	37	c.984C>T	CCDS5713.1																																																																																				0.642	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		16	37	0	0	0	1	0	16	37					A	100815486	G	A	100815486	2	1	4	1	0	0	0	0	0	0	0	1	2403	1136	40	1		1	C7orf52	7	100815486	Silent	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	92557464	100815486	58323177	30	218										
RELN	5649	broad.mit.edu	37	chr7	103281026	103281026	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tgcactgtcctctgccagaaCagaatttgagacatgacggg	11	10	1	4			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:103281026C>A	ENST00000428762.1	-	17	2192	c.2033G>T	c.(2032-2034)tGt>tTt	p.C678F	RELN_ENST00000343529.5_Missense_Mutation_p.C678F|RELN_ENST00000424685.2_Missense_Mutation_p.C678F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	678	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		TCTGCCAGAACAGAATTTGAG	0.368																																					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.(2032-2034)tGt>tTt		reelin							113	102	106					7																	103281026		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.chr7:103281026C>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.2033G>T	7.37:g.103281026C>A	ENSP00000392423:p.Cys678Phe		Somatic				RELN_ENST00000343529.5_Missense_Mutation_p.C678F|RELN_ENST00000424685.2_Missense_Mutation_p.C678F	p.C678F	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)	17	2192	-			678			EGF-like 1.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.2033G>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815696	0.70912	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24538	1.85;1.85;1.85	6.07	6.07	0.98685	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.093556	0.85682	D	0.000000	T	0.58708	0.2141	M	0.83953	2.67	0.80722	D	1	D;D	0.76494	0.999;0.992	D;D	0.85130	0.997;0.982	T	0.60403	-0.7270	10	0.87932	D	0	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	678;678	P78509-2;P78509	.;RELN_HUMAN	F	678	ENSP00000392423:C678F;ENSP00000345694:C678F;ENSP00000388446:C678F	ENSP00000345694:C678F	C	-	2	0	RELN	103068262	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.863000	0.75489	2.890000	0.99128	0.585000	0.79938	TGT		0.368	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		15	8	1	0	1.3612e-06	1	1.42422e-06	15	8					A	103281026	C	A	103281026	3	1	4	1	0	0	0	0	1	0	0	0	13235	478	17	5	8545	5	RELN	7	103281026	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	2465540	103281026	55857637	31	219										
C7orf49	78996	broad.mit.edu	37	chr7	134853626	134853626	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tgtagccacctgggctgtcaGccatgagggaaggaccctcg	14	12	1	1			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:134853626G>A	ENST00000393114.3	-	2	230	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	C7orf49_ENST00000424142.1_5'UTR|C7orf49_ENST00000430372.1_Missense_Mutation_p.A2V|C7orf49_ENST00000483029.2_Intron|RP11-134L10.1_ENST00000608819.1_RNA|C7orf49_ENST00000459937.1_5'UTR			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	17						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TGGGCTGTCAGCCATGAGGGA	0.527											OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000430372.1																			0				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						c.(4-6)gCt>gTt		chromosome 7 open reading frame 49							126	123	124					7																	134853626		2203	4300	6503	SO:0001819	synonymous_variant	78996					cytoplasm		g.chr7:134853626G>A	BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"modulator of retrovirus infection"					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.49C>T	7.37:g.134853626G>A			Somatic	OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1613	C7orf49_ENST00000424142.1_5'UTR|C7orf49_ENST00000483029.2_Intron|C7orf49_ENST00000459937.1_5'UTR|C7orf49_ENST00000393114.3_Silent_p.L17L	p.A2V	NM_001243751.1|NM_024033.3	NP_001230680.1|NP_076938.2	WXS	Illumina GAIIx	Phase_I	Q9BWK5	MRI_HUMAN			2	330	-			0					Q6NWZ4|Q6ZNR5	Missense_Mutation	SNP	ENST00000393114.3	37	c.5C>T	CCDS5838.2	.	.	.	.	.	.	.	.	.	.	G	9.985	1.229263	0.22542	.	.	ENSG00000122783	ENST00000430372	.	.	.	4.34	3.18	0.36537	.	.	.	.	.	T	0.31670	0.0804	.	.	.	0.23487	N	0.997578	B	0.31290	0.318	B	0.29176	0.099	T	0.24225	-1.0166	7	0.87932	D	0	-12.3355	7.7402	0.28837	0.0:0.0:0.2206:0.7794	.	2	C9JKC7	.	V	2	.	ENSP00000389941:A2V	A	-	2	0	C7orf49	134504166	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	2.372000	0.44257	0.711000	0.32018	-0.723000	0.03601	GCT		0.527	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340145.1	NM_024033		42	57	0	0	0	1	0	42	57					A	134853626	G	A	134853626	2	1	4	1	0	0	0	0	0	0	0	1	2400	962	34	3		3	C7orf49	7	134853626	Silent	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	31572600	134853626	24285037	32	220										
NUP205	23165	broad.mit.edu	37	chr7	135323338	135323338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	taatggaatattgccagtcaCtcatgttacagagttcccct	7	10	2	1			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:135323338C>T	ENST00000285968.6	+	38	5325	c.5299C>T	c.(5299-5301)Ctc>Ttc	p.L1767F		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1767					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						TTGCCAGTCACTCATGTTACA	0.408																																						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.(5299-5301)Ctc>Ttc		nucleoporin 205kDa							210	196	201					7																	135323338		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.chr7:135323338C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.5299C>T	7.37:g.135323338C>T	ENSP00000285968:p.Leu1767Phe		Somatic					p.L1767F	NM_015135.2	NP_055950.1	WXS	Illumina GAIIx	Phase_I	Q92621	NU205_HUMAN			38	5325	+			1767					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.5299C>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459148	0.43634	.	.	ENSG00000155561	ENST00000285968	T	0.35605	1.3	5.26	4.37	0.52481	.	0.057522	0.64402	N	0.000001	T	0.24198	0.0586	N	0.17082	0.46	0.80722	D	1	B	0.11235	0.004	B	0.14578	0.011	T	0.03193	-1.1062	10	0.39692	T	0.17	-6.8431	12.9686	0.58499	0.0:0.9203:0.0:0.0797	.	1767	Q92621	NU205_HUMAN	F	1767	ENSP00000285968:L1767F	ENSP00000285968:L1767F	L	+	1	0	NUP205	134973878	0.998000	0.40836	0.446000	0.26920	0.943000	0.58893	4.026000	0.57232	1.186000	0.42985	0.460000	0.39030	CTC		0.408	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			37	94	0	0	0	1	0	37	94					T	135323338	C	T	135323338	3	4	4	1	0	0	0	0	1	0	0	0	10768	565	20	3	5449	3	NUP205	7	135323338	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	469712	135323338	23815325	33	221										
SSPO	23145	broad.mit.edu	37	chr7	149518605	149518605	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	cactcgctcccgcaccctggGggacagctggctgcaggggg	16	15	0	0			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:149518605G>A	ENST00000378016.2	+	0	12674							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)			CGCACCCTGGGGGACAGCTGG	0.721																																						ENST00000378016.2																			0													SCO-spondin							4	6	5					7																	149518605		1861	3989	5850			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149518605G>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.149518605G>A			Somatic								WXS	Illumina GAIIx	Phase_I	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	12674	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.721	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	6	0	0	0	1	0	4	6					A	149518605	G	A	149518605	1	1	4	0	1	0	0	0	0	0	0	0	15204	1232	43	3		3	SSPO	7	149518605	RNA	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	14195267	149518605	9620058	34	222										
WWP1	11059	broad.mit.edu	37	chr8	87454894	87454894	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	aagttttgaacccaatgtatTgcttatttgagtatgcgggc	10	6	0	2			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr8:87454894T>C	ENST00000517970.1	+	18	2192	c.1885T>C	c.(1885-1887)Tgc>Cgc	p.C629R	WWP1_ENST00000265428.4_Missense_Mutation_p.C629R|WWP1_ENST00000341922.2_Missense_Mutation_p.C499R|WWP1_ENST00000349423.2_Missense_Mutation_p.C411R	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	629	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CCCAATGTATTGCTTATTTGA	0.323																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(1885-1887)Tgc>Cgc		WW domain containing E3 ubiquitin protein ligase 1							113	102	106					8																	87454894		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.chr8:87454894T>C	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.1885T>C	8.37:g.87454894T>C	ENSP00000427793:p.Cys629Arg		Somatic				WWP1_ENST00000265428.4_Missense_Mutation_p.C629R|WWP1_ENST00000341922.2_Missense_Mutation_p.C499R|WWP1_ENST00000349423.2_Missense_Mutation_p.C411R	p.C629R	NM_007013.3	NP_008944.1	WXS	Illumina GAIIx	Phase_I	Q9H0M0	WWP1_HUMAN			18	2192	+			629			HECT.		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.1885T>C	CCDS6242.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.197103|4.197103	0.79015|0.79015	.|.	.|.	ENSG00000123124|ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423|ENST00000520453	T;T;T;T|.	0.55760|.	0.5;0.5;0.5;0.5|.	5.4|5.4	5.4|5.4	0.78164|0.78164	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74596|0.74596	0.3737|0.3737	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.97110|.	0.961;1.0|.	T|T	0.75425|0.75425	-0.3322|-0.3322	10|5	0.72032|.	D|.	0.01|.	.|.	15.4113|15.4113	0.74923|0.74923	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	411;629|.	Q9H0M0-6;Q9H0M0|.	.;WWP1_HUMAN|.	R|S	629;629;499;411|129	ENSP00000427793:C629R;ENSP00000265428:C629R;ENSP00000340564:C499R;ENSP00000342665:C411R|.	ENSP00000265428:C629R|.	C|L	+|+	1|2	0|0	WWP1|WWP1	87524010|87524010	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.997000|7.997000	0.88414|0.88414	2.027000|2.027000	0.59764|0.59764	0.477000|0.477000	0.44152|0.44152	TGC|TTG		0.323	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		3	36	0	0	0	1	0	3	36					C	87454894	T	C	87454894	3	2	4	1	0	0	0	0	1	0	0	0	17430	1812	63	4	1947	4	WWP1	8	87454894	Missense_Mutation	SNP	T	TCGA-N5-A4RF-01A-11D-A28R-08		87454894	58909128	35	223										
PLEC	5339	broad.mit.edu	37	chr8	144999757	144999757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tctcctcctcgatgcgcagcCggctgcgctcagccgcctct	10	19	3	0	rs375600751		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr8:144999757C>T	ENST00000322810.4	-	31	4920	c.4751G>A	c.(4750-4752)cGg>cAg	p.R1584Q	PLEC_ENST00000436759.2_Missense_Mutation_p.R1474Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1447Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1415Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1470Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1447Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1451Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R1425Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1433Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1584	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GATGCGCAGCCGGCTGCGCTC	0.711																																						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.(4750-4752)cGg>cAg		plectin		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3714		0,0,1857	4	5	5		4340,4352,4340,4244,4751,4274,4298,4421	3.6	1	8		5	1,7695		0,1,3847	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	43,43,43,43,43,43,43,43	0,1,5704	TT,TC,CC		0.013,0.0,0.0088	benign,benign,benign,benign,benign,benign,benign,benign	1447/4548,1451/4552,1447/4548,1415/4516,1584/4685,1425/4526,1433/4534,1474/4575	144999757	1,11409	1857	3848	5705	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.chr8:144999757C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4751G>A	8.37:g.144999757C>T	ENSP00000323856:p.Arg1584Gln		Somatic				PLEC_ENST00000354589.3_Missense_Mutation_p.R1447Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1474Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R1425Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1415Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1470Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1433Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1447Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1451Q	p.R1584Q	NM_201380.2	NP_958782.1	WXS	Illumina GAIIx	Phase_I	Q15149	PLEC_HUMAN			31	4920	-			1584			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.4751G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267234	0.23136	0.0	1.3E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98	4.44	3.56	0.40772	.	0.190202	0.30911	N	0.008623	T	0.22322	0.0538	M	0.68593	2.085	0.42564	D	0.993154	B;B;B;B;B;B;B;B	0.31125	0.309;0.309;0.309;0.206;0.309;0.309;0.309;0.309	B;B;B;B;B;B;B;B	0.23852	0.049;0.049;0.049;0.022;0.049;0.049;0.049;0.049	T	0.05699	-1.0869	10	0.52906	T	0.07	.	12.301	0.54874	0.0:0.9144:0.0:0.0855	.	1474;1433;1425;1584;1415;1447;1451;1447	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1447;1451;1447;1415;1584;1425;1433;1474;1470	ENSP00000344848:R1447Q;ENSP00000350277:R1451Q;ENSP00000346602:R1447Q;ENSP00000381756:R1415Q;ENSP00000323856:R1584Q;ENSP00000347044:R1425Q;ENSP00000348702:R1433Q;ENSP00000388180:R1474Q;ENSP00000434583:R1470Q	ENSP00000323856:R1584Q	R	-	2	0	PLEC	145071745	0.998000	0.40836	0.979000	0.43373	0.313000	0.28021	3.867000	0.56047	0.982000	0.38575	-0.404000	0.06349	CGG		0.711	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		24	2	0	0	0	1	0	24	2					T	144999757	C	T	144999757	3	4	4	1	0	0	0	0	1	0	0	0	12061	652	23	1	9311	1	PLEC	8	144999757	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	57544863	144999757	1364265	36	224										
ELAVL2	1993	broad.mit.edu	37	chr9	23762158	23762158	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	ccagagtcaactggtgacgaAcagttgttgtttatggtggt	13	6	1	2			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr9:23762158A>C	ENST00000397312.2	-	2	349	c.75T>G	c.(73-75)tgT>tgG	p.C25W	ELAVL2_ENST00000380110.4_Missense_Mutation_p.C54W|ELAVL2_ENST00000380117.1_Missense_Mutation_p.C25W|ELAVL2_ENST00000544538.1_Missense_Mutation_p.C25W|ELAVL2_ENST00000462649.1_5'Flank|ELAVL2_ENST00000223951.6_Missense_Mutation_p.C25W	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	25					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)		CTGGTGACGAACAGTTGTTGT	0.438																																						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.(73-75)tgT>tgG		ELAV like neuron-specific RNA binding protein 2							334	306	315					9																	23762158		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23762158A>C	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.75T>G	9.37:g.23762158A>C	ENSP00000380479:p.Cys25Trp		Somatic				ELAVL2_ENST00000223951.6_Missense_Mutation_p.C25W|ELAVL2_ENST00000380117.1_Missense_Mutation_p.C25W|ELAVL2_ENST00000380110.4_Missense_Mutation_p.C54W|ELAVL2_ENST00000544538.1_Missense_Mutation_p.C25W	p.C25W	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)	2	349	-			25					D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.75T>G	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360073	0.61403	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	T;T;T;T;T	0.14022	2.54;2.96;2.96;2.96;2.87	5.92	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.19005	0.0456	N	0.19112	0.55	0.80722	D	1	P;D	0.76494	0.779;0.999	P;D	0.68765	0.447;0.96	T	0.01993	-1.1233	10	0.39692	T	0.17	.	9.2528	0.37564	0.2716:0.0:0.7284:0.0	.	25;25	Q12926;Q12926-2	ELAV2_HUMAN;.	W	25;25;25;25;25;53;25	ENSP00000223951:C25W;ENSP00000380479:C25W;ENSP00000440998:C25W;ENSP00000369460:C25W;ENSP00000412602:C25W	ENSP00000223951:C25W	C	-	3	2	ELAVL2	23752158	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	3.425000	0.52771	0.423000	0.26033	-0.197000	0.12766	TGT		0.438	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		8	180	0	0	0	1	0	8	180					C	23762158	A	C	23762158	3	2	4	1	0	0	0	0	1	0	0	0	5052	41	2	4	1028	4	ELAVL2	9	23762158	Missense_Mutation	SNP	A	TCGA-N5-A4RF-01A-11D-A28R-08		23762158	117451273	37	225										
HKDC1	80201	broad.mit.edu	37	chr10	71007270	71007270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	ctctggcggccatcctgacaCgcctccgggagaacaagaag	12	14	1	3	rs139689016	byFrequency	TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr10:71007270C>T	ENST00000354624.5	+	9	1319	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C	HKDC1_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Missense_Mutation_p.R396C	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	396	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CATCCTGACACGCCTCCGGGA	0.607																																						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.(1186-1188)Cgc>Tgc		hexokinase domain containing 1		C	CYS/ARG	0,4406		0,0,2203	77	71	73		1186	3.9	0.8	10	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense	HKDC1	NM_025130.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	396/918	71007270	1,13005	2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71007270C>T		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1186C>T	10.37:g.71007270C>T	ENSP00000346643:p.Arg396Cys		Somatic				HKDC1_ENST00000395086.2_Missense_Mutation_p.R396C|HKDC1_ENST00000488706.1_3'UTR	p.R396C	NM_025130.3	NP_079406.3	WXS	Illumina GAIIx	Phase_I	Q2TB90	HKDC1_HUMAN			9	1319	+			396					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.1186C>T	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208347	0.39003	0.0	1.16E-4	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.96830	-4.14;-4.14	4.84	3.94	0.45596	Hexokinase, C-terminal (1);	0.060452	0.64402	N	0.000002	D	0.96272	0.8784	M	0.84948	2.725	0.80722	D	1	D	0.56035	0.974	P	0.45167	0.472	D	0.95780	0.8816	10	0.59425	D	0.04	-16.7749	13.45	0.61165	0.0:0.924:0.0:0.076	.	396	Q2TB90	HKDC1_HUMAN	C	396	ENSP00000346643:R396C;ENSP00000378521:R396C	ENSP00000346643:R396C	R	+	1	0	HKDC1	70677276	1.000000	0.71417	0.801000	0.32222	0.042000	0.13812	4.795000	0.62489	1.262000	0.44165	-0.224000	0.12420	CGC		0.607	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		12	67	0	0	0	1	0	12	67					T	71007270	C	T	71007270	3	4	4	1	0	0	0	0	1	0	0	0	7202	536	19	1	1220	1	HKDC1	10	71007270	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08		71007270	64527477	38	226										
PTEN	5728	broad.mit.edu	37	chr10	89720877	89720877	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	cttttctccaaattttaaggTcagttaaattaaacattttg	4	6	2	0			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr10:89720877T>G	ENST00000371953.3	+	8	2383		c.e8+2		PTEN_ENST00000472832.1_3'UTR	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.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.?(1)|p.G165_*404del(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)		AATTTTAAGGTCAGTTAAATT	0.323		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"		49	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(2)|Unknown(1)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.?(1)|p.G165_*404del(1)|p.D326_K342del(1)	prostate(16)|central_nervous_system(11)|skin(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(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.e8+2		phosphatase and tensin homolog							44	47	46					10																	89720877		2203	4299	6502	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.chr10:89720877T>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.1026+2T>G	10.37:g.89720877T>G		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic				PTEN_ENST00000472832.1_3'UTR		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	2383	+		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	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198315	0.79015	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3536	0.74409	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89710857	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.614000	0.82996	2.034000	0.60081	0.482000	0.46254	.		0.323	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron	7	30	0	0	0	1	0	7	30					G	89720877	T	G	89720877	5	3	4	1	0	0	0	0	0	0	1	0	12750	1681	58	4	1058	4	PTEN	10	89720877	Splice_Site	SNP	T	TCGA-N5-A4RF-01A-11D-A28R-08	18713607	89720877	45813870	39	227										
GPAM	57678	broad.mit.edu	37	chr10	113928673	113928673	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tggtgtttcatcgagccttcGtcgtatgaagaagcccccaa	10	11	1	2			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr10:113928673G>A	ENST00000348367.4	-	10	1029	c.832C>T	c.(832-834)Cga>Tga	p.R278*	GPAM_ENST00000369425.1_Nonsense_Mutation_p.R278*|GPAM_ENST00000423155.1_Nonsense_Mutation_p.R278*			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	278					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TCGAGCCTTCGTCGTATGAAG	0.378																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(832-834)Cga>Tga		glycerol-3-phosphate acyltransferase, mitochondrial							119	114	116					10																	113928673		2203	4300	6503	SO:0001587	stop_gained	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113928673G>A	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.832C>T	10.37:g.113928673G>A	ENSP00000265276:p.Arg278*		Somatic				GPAM_ENST00000369425.1_Nonsense_Mutation_p.R278*|GPAM_ENST00000423155.1_Nonsense_Mutation_p.R278*	p.R278*			WXS	Illumina GAIIx	Phase_I	Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	10	1029	-			278					Q5VW51|Q86TA3	Nonsense_Mutation	SNP	ENST00000348367.4	37	c.832C>T	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	G	39	7.441009	0.98286	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0312	10.9864	0.47525	0.0:0.1376:0.7202:0.1423	.	.	.	.	X	278	.	ENSP00000265276:R278X	R	-	1	2	GPAM	113918663	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	2.890000	0.48609	2.620000	0.88729	0.643000	0.83706	CGA		0.378	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		32	16	0	0	0	1	0	32	16					A	113928673	G	A	113928673	4	1	4	1	0	0	0	0	0	1	0	0	6596	1153	40	1	1706	1	GPAM	10	113928673	Nonsense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	24207796	113928673	21606074	40	228										
SCGB1D2	10647	broad.mit.edu	37	chr11	62009833	62009833	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	ctggccctctgctgctaccaGggtgagtacatcagtcatga	11	12	3	2			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr11:62009833G>T	ENST00000244926.3	+	1	152	c.54G>T	c.(52-54)caG>caT	p.Q18H	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	18						extracellular space (GO:0005615)				breast(1)|endometrium(1)|lung(1)	3						GCTGCTACCAGGGTGAGTACA	0.537																																						ENST00000244926.3																			0				breast(1)|endometrium(1)|lung(1)	3						c.e1+1		secretoglobin, family 1D, member 2							158	119	132					11																	62009833		2202	4299	6501	SO:0001630	splice_region_variant	10647					extracellular space	binding	g.chr11:62009833G>T	AJ224172	CCDS8017.1	11q13	2011-12-14			ENSG00000124935	ENSG00000124935		"Secretoglobins"	18396	protein-coding gene	gene with protein product	"prostatein-like lipophilin B", "lipophilin B (uteroglobin family member), prostatein-like"	615061				10066439, 9720917, 22155607	Standard	XM_006718422		Approved	LPHB, LIPB	uc001ntb.3	O95969	OTTHUMG00000167508	ENST00000244926.3:c.55+1G>T	11.37:g.62009833G>T			Somatic				RP11-703H8.9_ENST00000529875.1_RNA	p.Q18_splice	NM_006551.3	NP_006542.1	WXS	Illumina GAIIx	Phase_I	O95969	SG1D2_HUMAN			1	152	+			18					Q2M3N9	Splice_Site	SNP	ENST00000244926.3	37	c.55_splice	CCDS8017.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804637	0.50315	.	.	ENSG00000124935	ENST00000244926	T	0.18338	2.22	2.03	-0.0235	0.13943	.	2.723280	0.02611	U	0.102147	T	0.28532	0.0706	.	.	.	0.09310	N	1	D	0.67145	0.996	P	0.56700	0.804	T	0.10177	-1.0641	9	0.72032	D	0.01	.	3.1802	0.06582	0.1801:0.2833:0.5366:0.0	.	18	O95969	SG1D2_HUMAN	H	18	ENSP00000244926:Q18H	ENSP00000244926:Q18H	Q	+	3	2	SCGB1D2	61766409	0.003000	0.15002	0.327000	0.25402	0.629000	0.37895	-0.827000	0.04424	0.003000	0.14656	0.313000	0.20887	CAG		0.537	SCGB1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394859.1	NM_006551	Missense_Mutation	24	38	1	0	9.95505e-16	1	1.11378e-15	24	38					T	62009833	G	T	62009833	5	4	4	1	0	0	0	0	0	0	1	0	13912	1014	35	5	56	5	SCGB1D2	11	62009833	Splice_Site	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08		62009833	72996683	41	229										
DHCR7	1717	broad.mit.edu	37	chr11	71146794	71146794	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	ccttctggtggttggccaccCggaagatgtagtagcccacc	12	13	1	1	rs121909768		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr11:71146794C>A	ENST00000355527.3	-	9	1331	c.1055G>T	c.(1054-1056)cGg>cTg	p.R352L	DHCR7_ENST00000407721.2_Missense_Mutation_p.R352L	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	352			R -> Q (in SLOS). {ECO:0000269|PubMed:10677299}.|R -> W (in SLOS). {ECO:0000269|PubMed:10677299, ECO:0000269|PubMed:11175299, ECO:0000269|PubMed:9653161}.		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						GTTGGCCACCCGGAAGATGTA	0.667									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19	GRCh37	CM000688	DHCR7	M	rs121909768	c.(1054-1056)cGg>cTg		7-dehydrocholesterol reductase	NADH(DB00157)						37	36	37					11																	71146794		2200	4294	6494	SO:0001583	missense	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71146794C>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.1055G>T	11.37:g.71146794C>A	ENSP00000347717:p.Arg352Leu		Somatic				DHCR7_ENST00000407721.2_Missense_Mutation_p.R352L	p.R352L	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	WXS	Illumina GAIIx	Phase_I	Q9UBM7	DHCR7_HUMAN			9	1331	-			352		R -> Q (in SLOS).|R -> W (in SLOS).			B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	c.1055G>T	CCDS8200.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.42|14.42	2.530595|2.530595	0.45073|0.45073	.|.	.|.	ENSG00000172893|ENSG00000172893	ENST00000525137|ENST00000407721;ENST00000355527;ENST00000533800	D|D;D;D	0.99541|0.98164	-6.12|-4.76;-4.76;-4.76	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99230|0.99230	0.9732|0.9732	H|H	0.94658|0.94658	3.565|3.565	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	D|D	0.99047|0.99047	1.0826|1.0826	7|10	0.87932|0.72032	D|D	0|0.01	-44.2018|-44.2018	15.9428|15.9428	0.79771|0.79771	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|352	.|Q9UBM7	.|DHCR7_HUMAN	W|L	186|352;352;102	ENSP00000435956:G186W|ENSP00000384739:R352L;ENSP00000347717:R352L;ENSP00000435011:R102L	ENSP00000435956:G186W|ENSP00000347717:R352L	G|R	-|-	1|2	0|0	DHCR7|DHCR7	70824442|70824442	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.974000|0.974000	0.67602|0.67602	6.807000|6.807000	0.75201|0.75201	2.363000|2.363000	0.80096|0.80096	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.667	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		3	38	1	0	0.115264	1	0.115264	3	38					A	71146794	C	A	71146794	3	1	4	1	0	0	0	0	1	0	0	0	4479	652	23	5	376	5	DHCR7	11	71146794	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	9136961	71146794	63859722	42	230										
TTC12	54970	broad.mit.edu	37	chr11	113222820	113222820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tcccaaggtaagcagctcctCggctctgtgccagtgcattg	11	13	1	0	rs147647661		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr11:113222820C>T	ENST00000529221.1	+	16	1442	c.1337C>T	c.(1336-1338)tCg>tTg	p.S446L	TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000483239.2_Missense_Mutation_p.S452L|TTC12_ENST00000314756.3_Missense_Mutation_p.S446L|TTC12_ENST00000393020.1_Missense_Mutation_p.S446L	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	446										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AGCAGCTCCTCGGCTCTGTGC	0.542																																						ENST00000393020.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1336-1338)tCg>tTg		tetratricopeptide repeat domain 12		C	LEU/SER	1,4401	2.1+/-5.4	0,1,2200	105	93	97		1337	3.4	0	11	dbSNP_134	97	0,8592		0,0,4296	no	missense	TTC12	NM_017868.3	145	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	benign	446/706	113222820	1,12993	2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113222820C>T	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"Tetratricopeptide (TTC) repeat domain containing"	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1337C>T	11.37:g.113222820C>T	ENSP00000433757:p.Ser446Leu		Somatic				TTC12_ENST00000314756.3_Missense_Mutation_p.S446L|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000529221.1_Missense_Mutation_p.S446L|TTC12_ENST00000483239.2_Missense_Mutation_p.S452L	p.S446L			WXS	Illumina GAIIx	Phase_I	Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	16	1742	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	446					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.1337C>T	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	C	13.32	2.200960	0.38905	2.27E-4	0.0	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.29	3.42	0.39159	Armadillo-like helical (1);Armadillo-type fold (1);	0.413435	0.18926	N	0.127338	T	0.38506	0.1043	M	0.70595	2.14	0.09310	N	1	P;P	0.41420	0.749;0.749	B;B	0.22152	0.038;0.038	T	0.39396	-0.9616	10	0.72032	D	0.01	-2.2133	9.5786	0.39472	0.0:0.8343:0.0:0.1657	.	446;446	A8K8G6;Q9H892	.;TTC12_HUMAN	L	446;446;446;452	ENSP00000433757:S446L;ENSP00000315160:S446L;ENSP00000376743:S446L;ENSP00000419652:S452L	ENSP00000315160:S446L	S	+	2	0	TTC12	112728030	0.098000	0.21812	0.001000	0.08648	0.033000	0.12548	2.398000	0.44486	0.730000	0.32425	0.655000	0.94253	TCG		0.542	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		12	19	0	0	0	1	0	12	19					T	113222820	C	T	113222820	3	4	4	1	0	0	0	0	1	0	0	0	16694	893	31	1	1395	1	TTC12	11	113222820	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	42076026	113222820	21783696	43	231										
WNK1	65125	broad.mit.edu	37	chr12	971300	971300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	ctctgtcttcacagaatctcGagtgagcagccaacagacag	9	12	4	3			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:971300G>A	ENST00000315939.6	+	8	2646	c.2003G>A	c.(2002-2004)cGa>cAa	p.R668Q	WNK1_ENST00000530271.2_Missense_Mutation_p.R668Q|WNK1_ENST00000535572.1_Missense_Mutation_p.R668Q|WNK1_ENST00000340908.4_Missense_Mutation_p.R261Q|WNK1_ENST00000537687.1_Missense_Mutation_p.R668Q	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	668					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)			ACAGAATCTCGAGTGAGCAGC	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.(2002-2004)cGa>cAa		WNK lysine deficient protein kinase 1							172	146	155					12																	971300		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.chr12:971300G>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.2003G>A	12.37:g.971300G>A	ENSP00000313059:p.Arg668Gln		Somatic				WNK1_ENST00000530271.2_Missense_Mutation_p.R668Q|WNK1_ENST00000315939.6_Missense_Mutation_p.R668Q|WNK1_ENST00000535572.1_Missense_Mutation_p.R668Q|WNK1_ENST00000340908.4_Missense_Mutation_p.R261Q	p.R668Q	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)		8	2646	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		668					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.2003G>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434499	0.25813	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42	5.91	5.91	0.95273	.	0.119687	0.37761	N	0.001952	T	0.09642	0.0237	N	0.15975	0.35	0.26425	N	0.976033	P;P;B	0.37122	0.583;0.583;0.447	B;B;B	0.34180	0.177;0.177;0.114	T	0.29305	-1.0016	10	0.13470	T	0.59	-11.7667	13.1445	0.59452	0.0731:0.0:0.9269:0.0	.	668;668;668	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	Q	668;668;668;115;668;261	ENSP00000441972:R668Q;ENSP00000313059:R668Q;ENSP00000444465:R668Q;ENSP00000433548:R668Q;ENSP00000341292:R261Q	ENSP00000252477:R115Q	R	+	2	0	WNK1	841561	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.621000	0.61233	2.793000	0.96121	0.655000	0.94253	CGA		0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		38	22	0	0	0	1	0	38	22					A	971300	G	A	971300	3	1	4	1	0	0	0	0	1	0	0	0	17392	1058	37	1	2033	1	WNK1	12	971300	Missense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08		971300	132880595	44	232										
CHD4	1108	broad.mit.edu	37	chr12	6700637	6700637	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	ctccttctctctcaccattgAagcggtcaatggcctcttgc	7	15	4	1			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:6700637A>G	ENST00000357008.2	-	22	3498	c.3335T>C	c.(3334-3336)tTc>tCc	p.F1112S	CHD4_ENST00000544040.1_Missense_Mutation_p.F1105S|CHD4_ENST00000544484.1_Missense_Mutation_p.F1109S|CHD4_ENST00000309577.6_Missense_Mutation_p.F1112S	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1112	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						CTCACCATTGAAGCGGTCAAT	0.428																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(3334-3336)tTc>tCc		chromodomain helicase DNA binding protein 4							147	125	133					12																	6700637		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.chr12:6700637A>G	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.3335T>C	12.37:g.6700637A>G	ENSP00000349508:p.Phe1112Ser		Somatic				CHD4_ENST00000544040.1_Missense_Mutation_p.F1105S|CHD4_ENST00000357008.2_Missense_Mutation_p.F1112S|CHD4_ENST00000544484.1_Missense_Mutation_p.F1109S	p.F1112S			WXS	Illumina GAIIx	Phase_I	Q14839	CHD4_HUMAN			22	3498	-			1112			Helicase C-terminal.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3335T>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.649305	0.67358	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.15	5.15	0.70609	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97579	0.9207	H	0.99590	4.645	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.981	D;D;D	0.91635	0.996;0.999;0.972	D	0.99246	1.0886	10	0.87932	D	0	.	14.9841	0.71332	1.0:0.0:0.0:0.0	.	1112;1112;1105	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	S	1109;1105;1112;1112;1086	ENSP00000440392:F1109S;ENSP00000440542:F1105S;ENSP00000312419:F1112S;ENSP00000349508:F1112S	ENSP00000312419:F1112S	F	-	2	0	CHD4	6570898	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.117000	0.94347	1.951000	0.56629	0.533000	0.62120	TTC		0.428	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		47	17	0	0	0	1	0	47	17					G	6700637	A	G	6700637	3	3	4	1	0	0	0	0	1	0	0	0	3329	246	9	4	2479	4	CHD4	12	6700637	Missense_Mutation	SNP	A	TCGA-N5-A4RF-01A-11D-A28R-08	5729337	6700637	127151258	45	233										
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C													0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs11428482|rs374779752|rs17857448		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000440277.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC			Somatic				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				WXS	Illumina GAIIx	Phase_I	Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	7	28						7	28	---	---	---	---	C	7080213	-	C	7080212	8	5	4	1	0	1	1	0	0	0	1	0	5092	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-N5-A4RF-01A-11D-A28R-08	379575	7080212	126771683	46	234										
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	WXS	Illumina GAIIx	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		11	1	1	0	4.36969e-10	1	4.74784e-10	11	1					A	25398284	C	A	25398284	3	1	4	1	0	0	0	0	1	0	0	0	8447	507	18	5	671	5	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	18318072	25398284	108453611	47	235										
DDX51	317781	broad.mit.edu	37	chr12	132625180	132625180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	ctcacctgtgggagttctctCgggagttagtgaagcagaga	14	8	2	2	rs370006300		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:132625180C>T	ENST00000397333.3	-	10	1579	c.1541G>A	c.(1540-1542)cGa>cAa	p.R514Q		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	514	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGAGTTCTCTCGGGAGTTAGT	0.642																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1540-1542)cGa>cAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51		C	GLN/ARG	1,3965		0,1,1982	47	54	52		1541	5	0.9	12		52	0,8298		0,0,4149	no	missense	DDX51	NM_175066.3	43	0,1,6131	TT,TC,CC		0.0,0.0252,0.0082	probably-damaging	514/667	132625180	1,12263	1983	4149	6132	SO:0001583	missense	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132625180C>T	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1541G>A	12.37:g.132625180C>T	ENSP00000380495:p.Arg514Gln		Somatic					p.R514Q	NM_175066.3	NP_778236.2	WXS	Illumina GAIIx	Phase_I	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	10	1579	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	514			Helicase C-terminal.		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	c.1541G>A	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119112	0.77323	2.52E-4	0.0	ENSG00000185163	ENST00000397333	T	0.06142	3.34	5.02	5.02	0.67125	Helicase, C-terminal (1);	0.051758	0.85682	D	0.000000	T	0.06234	0.0161	N	0.22421	0.69	0.53688	D	0.999973	P	0.51653	0.947	B	0.41440	0.357	T	0.39482	-0.9612	10	0.49607	T	0.09	-17.5505	15.8652	0.79060	0.0:1.0:0.0:0.0	.	514	Q8N8A6	DDX51_HUMAN	Q	514	ENSP00000380495:R514Q	ENSP00000380495:R514Q	R	-	2	0	DDX51	131191133	0.999000	0.42202	0.946000	0.38457	0.857000	0.48899	4.169000	0.58223	2.333000	0.79357	0.467000	0.42956	CGA		0.642	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		14	60	0	0	0	1	0	14	60					T	132625180	C	T	132625180	3	4	4	1	0	0	0	0	1	0	0	0	4371	884	31	1	483	1	DDX51	12	132625180	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	107226896	132625180	1226715	48	236										
RB1	5925	broad.mit.edu	37	chr13	49037935	49037943	+	In_Frame_Del	DEL	AACAGCATA	AACAGCATA	-													0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	cttaaattcaaaatcattgtAacagcatacaaggatcttcc							TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr13:49037935_49037943delAACAGCATA	ENST00000267163.4	+	21	2313_2321	c.2175_2183delAACAGCATA	c.(2173-2184)gtaacagcatac>gtc	p.TAY726del		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	726	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.I703_E737del(2)|p.Y728C(1)|p.C712_A727del(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AAATCATTGTAACAGCATACAAGGATCTT	0.301		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"		29	Whole gene deletion(15)|Unknown(10)|Deletion - In frame(3)|Substitution - Missense(1)	p.0?(15)|p.?(10)|p.I703_E737del(2)|p.Y728C(1)|p.C712_A727del(1)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)|ovary(1)|prostate(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CD941780	RB1	D		c.(2173-2184)gtc>gt		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001651	inframe_deletion	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.chr13:49037935_49037943delAACAGCATA	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.2175_2183delAACAGCATA	13.37:g.49037935_49037943delAACAGCATA	ENSP00000267163:p.Thr726_Tyr728del	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	Somatic					p.VTAY725del	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)	21	2313_2321	+		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)	725			Domain B.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	In_Frame_Del	DEL	ENST00000267163.4	37	c.2175_2183delAACAGCATA	CCDS31973.1																																																																																				0.301	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			28	3						28	3	---	---	---	---	-	49037943	AACAGCATA	-	49037935	7	5	4	1	0	1	0	1	0	0	0	0	13113	349	13	0	2257	0	RB1	13	49037935	In_Frame_Del	DEL	AACAGCATA	TCGA-N5-A4RF-01A-11D-A28R-08		49037935	66131943	49	237										
HSPA2	3306	broad.mit.edu	37	chr14	65008092	65008092	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	aatgtgctgcgcatcatcaaCgagcccacggcggcggccat	12	14	2	0			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr14:65008092C>T	ENST00000394709.1	+	2	601	c.525C>T	c.(523-525)aaC>aaT	p.N175N	HSPA2_ENST00000554883.1_3'UTR|HSPA2_ENST00000247207.6_Silent_p.N175N|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	175					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GCATCATCAACGAGCCCACGG	0.652																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(523-525)aaC>aaT		heat shock 70kDa protein 2							55	58	57					14																	65008092		2203	4300	6503	SO:0001819	synonymous_variant	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008092C>T	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.525C>T	14.37:g.65008092C>T			Somatic				HSPA2_ENST00000554883.1_3'UTR|HSPA2_ENST00000394709.1_Silent_p.N175N	p.N175N	NM_021979.3	NP_068814.2	WXS	Illumina GAIIx	Phase_I	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	907	+			175					Q15508|Q53XM3|Q9UE78	Silent	SNP	ENST00000394709.1	37	c.525C>T	CCDS9766.1																																																																																				0.652	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			49	83	0	0	0	1	0	49	83					T	65008092	C	T	65008092	2	4	4	1	0	0	0	0	0	0	0	1	7420	535	19	1		1	HSPA2	14	65008092	Silent	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08		65008092	42341448	50	238										
ZNF839	55778	broad.mit.edu	37	chr14	102807718	102807718	+	Frame_Shift_Del	DEL	G	G	-													0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tctgaagaaagccatacaacGacggtttctggtggcaatgg							TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr14:102807718delG	ENST00000558850.1	+	8	1988	c.1638delG	c.(1636-1638)acgfs	p.T547fs	ZNF839_ENST00000262236.5_Frame_Shift_Del_p.T549fs|ZNF839_ENST00000442396.2_Frame_Shift_Del_p.T663fs|ZNF839_ENST00000420933.2_3'UTR|AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000559185.1_Frame_Shift_Del_p.T547fs	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	547							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						GCCATACAACGACGGTTTCTG	0.527																																						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.(1642-1644)acfs		zinc finger protein 839							103	100	101					14																	102807718		1981	4169	6150	SO:0001589	frameshift_variant	55778					intracellular	zinc ion binding	g.chr14:102807718delG	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.1638delG	14.37:g.102807718delG	ENSP00000453363:p.Thr547fs		Somatic				ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000558850.1_Frame_Shift_Del_p.T547fs|ZNF839_ENST00000442396.2_Frame_Shift_Del_p.T663fs|ZNF839_ENST00000559185.1_Frame_Shift_Del_p.T547fs	p.T549fs	NM_018335.4	NP_060805.3	WXS	Illumina GAIIx	Phase_I	A8K0R7	ZN839_HUMAN			8	1999	+			547					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Frame_Shift_Del	DEL	ENST00000558850.1	37	c.1644delG	CCDS58336.1																																																																																				0.527	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		22	51						22	51	---	---	---	---	-	102807718	G	-	102807718	7	5	4	1	0	1	0	1	0	0	0	0	18203	1045	37	0	2016	0	ZNF839	14	102807718	Frame_Shift_Del	DEL	G	TCGA-N5-A4RF-01A-11D-A28R-08	37799626	102807718	4541822	51	239										
SV2B	9899	broad.mit.edu	37	chr15	91795210	91795210	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	atggagccttcctcttctgcCgactcatctcaggcatcggg	10	14	4	0			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr15:91795210C>T	ENST00000394232.1	+	3	1083	c.613C>T	c.(613-615)Cga>Tga	p.R205*	SV2B_ENST00000545111.2_Nonsense_Mutation_p.R54*|SV2B_ENST00000330276.4_Nonsense_Mutation_p.R205*	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	205					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)			CCTCTTCTGCCGACTCATCTC	0.557																																						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.(613-615)Cga>Tga		synaptic vesicle glycoprotein 2B							129	105	113					15																	91795210		2198	4298	6496	SO:0001587	stop_gained	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91795210C>T	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.613C>T	15.37:g.91795210C>T	ENSP00000377779:p.Arg205*		Somatic				SV2B_ENST00000330276.4_Nonsense_Mutation_p.R205*|SV2B_ENST00000545111.2_Nonsense_Mutation_p.R54*	p.R205*	NM_014848.4	NP_055663.1	WXS	Illumina GAIIx	Phase_I	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		3	1083	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		205					B4DH30|C6G489|O94840|Q6IAR8	Nonsense_Mutation	SNP	ENST00000394232.1	37	c.613C>T	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	C	39	7.700385	0.98441	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	.	.	.	5.38	3.35	0.38373	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2874	13.0068	0.58710	0.3915:0.6085:0.0:0.0	.	.	.	.	X	54;205;205	.	ENSP00000332818:R205X	R	+	1	2	SV2B	89596214	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.963000	0.40452	0.588000	0.29660	0.563000	0.77884	CGA		0.557	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		19	13	0	0	0	1	0	19	13					T	91795210	C	T	91795210	4	4	4	1	0	0	0	0	0	1	0	0	15433	644	23	1	619	1	SV2B	15	91795210	Nonsense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08		91795210	10736182	52	240										
ADCY9	115	broad.mit.edu	37	chr16	4165230	4165230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	cttcttctgcctgcgcagccGgcctccgccgcccactcgcc	9	22	2	0			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr16:4165230G>A	ENST00000294016.3	-	2	752	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	72					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						CTGCGCAGCCGGCCTCCGCCG	0.677																																						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.(214-216)Cgg>Tgg		adenylate cyclase 9							33	32	33					16																	4165230		2195	4299	6494	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4165230G>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.214C>T	16.37:g.4165230G>A	ENSP00000294016:p.Arg72Trp		Somatic					p.R72W	NM_001116.3	NP_001107.2	WXS	Illumina GAIIx	Phase_I	O60503	ADCY9_HUMAN			2	752	-			72					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.214C>T	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940811	0.52972	.	.	ENSG00000162104	ENST00000294016	T	0.28454	1.61	5.04	5.04	0.67666	.	0.300136	0.36002	N	0.002849	T	0.20700	0.0498	N	0.22421	0.69	0.33452	D	0.583793	D	0.59357	0.985	B	0.40534	0.332	T	0.33599	-0.9862	10	0.62326	D	0.03	.	11.557	0.50755	0.0845:0.0:0.9155:0.0	.	72	O60503	ADCY9_HUMAN	W	72	ENSP00000294016:R72W	ENSP00000294016:R72W	R	-	1	2	ADCY9	4105231	1.000000	0.71417	0.977000	0.42913	0.811000	0.45836	3.946000	0.56644	2.355000	0.79922	0.456000	0.33151	CGG		0.677	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			7	19	0	0	0	1	0	7	19					A	4165230	G	A	4165230	3	1	4	1	0	0	0	0	1	0	0	0	301	1115	39	1	3887	1	ADCY9	16	4165230	Missense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08		4165230	86189523	53	241										
CTCF	10664	broad.mit.edu	37	chr16	67645112	67645115	+	Frame_Shift_Del	DEL	TTGC	TTGC	-													0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tgttcctgtgactgtacctgTtgctaccacttcagtagaag							TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr16:67645112_67645115delTTGC	ENST00000264010.4	+	3	821_824	c.377_380delTTGC	c.(376-381)gttgctfs	p.VA126fs	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	126					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		ACTGTACCTGTTGCTACCACTTCA	0.436																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(376-381)gtfs		CCCTC-binding factor (zinc finger protein)																																				SO:0001589	frameshift_variant	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67645112_67645115delTTGC	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.377_380delTTGC	16.37:g.67645112_67645115delTTGC	ENSP00000264010:p.Val126fs		Somatic				CTCF_ENST00000401394.1_Intron	p.VA126fs	NM_006565.3	NP_006556.1	WXS	Illumina GAIIx	Phase_I	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	3	821_824	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	126					B5MC38|Q53XI7|Q59EL8	Frame_Shift_Del	DEL	ENST00000264010.4	37	c.377_380delTTGC	CCDS10841.1																																																																																				0.436	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		38	48						38	48	---	---	---	---	-	67645115	TTGC	-	67645112	7	5	4	1	0	1	0	1	0	0	0	0	4002	1725	60	0	379	0	CTCF	16	67645112	Frame_Shift_Del	DEL	TTGC	TCGA-N5-A4RF-01A-11D-A28R-08	63479882	67645112	22709641	54	242										
NOB1	28987	broad.mit.edu	37	chr16	69778900	69778900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	cacagtgtgagcagaacactCggctcatgtcagacgttgtc	11	11	2	3	rs373158111		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr16:69778900C>T	ENST00000268802.5	-	8	874	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	CTD-2033A16.3_ENST00000575838.1_RNA	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	282					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						GCAGAACACTCGGCTCATGTC	0.577																																						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.(844-846)cGa>cAa		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)		C	GLN/ARG	1,4395	2.1+/-5.4	0,1,2197	85	65	72		845	4.5	1	16		72	0,8600		0,0,4300	no	missense	NOB1	NM_014062.1	43	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	282/413	69778900	1,12995	2198	4300	6498	SO:0001583	missense	28987					nucleus	metal ion binding|protein binding	g.chr16:69778900C>T	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.845G>A	16.37:g.69778900C>T	ENSP00000268802:p.Arg282Gln		Somatic					p.R282Q	NM_014062.1	NP_054781.1	WXS	Illumina GAIIx	Phase_I	Q9ULX3	NOB1_HUMAN			8	874	-			282					Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Missense_Mutation	SNP	ENST00000268802.5	37	c.845G>A	CCDS10884.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927292	0.73327	2.27E-4	0.0	ENSG00000141101	ENST00000268802	T	0.32988	1.43	5.5	4.54	0.55810	Nin one binding (NOB1) Zn-ribbon-like (1);	0.052907	0.64402	D	0.000001	T	0.41834	0.1176	M	0.77406	2.37	0.38305	D	0.943083	D	0.59357	0.985	P	0.51229	0.663	T	0.45731	-0.9241	9	.	.	.	.	8.3321	0.32193	0.0:0.7866:0.0:0.2134	.	282	Q9ULX3	NOB1_HUMAN	Q	282	ENSP00000268802:R282Q	.	R	-	2	0	NOB1	68336401	0.969000	0.33509	1.000000	0.80357	0.241000	0.25554	1.832000	0.39151	2.735000	0.93741	0.655000	0.94253	CGA		0.577	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		8	27	0	0	0	1	0	8	27					T	69778900	C	T	69778900	3	4	4	1	0	0	0	0	1	0	0	0	10520	884	31	1	401	1	NOB1	16	69778900	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	2133788	69778900	20575853	55	243										
GAS8	2622	broad.mit.edu	37	chr16	90094129	90094129	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	agaggacatgagcaaggagcAggtgagcagagcgggctgtg	19	6	0	4			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr16:90094129A>G	ENST00000268699.4	+	2	211	c.89A>G	c.(88-90)cAg>cGg	p.Q30R	GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Splice_Site_p.Q5R	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	30	Regulates microtubule-binding. {ECO:0000250}.				cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGCAAGGAGCAGGTGAGCAGA	0.612																																						ENST00000268699.4																			0				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.e2+1		growth arrest-specific 8							85	82	83					16																	90094129		2198	4300	6498	SO:0001630	splice_region_variant	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90094129A>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.90+1A>G	16.37:g.90094129A>G			Somatic				GAS8_ENST00000536122.1_Splice_Site_p.Q5_splice|GAS8_ENST00000540721.1_Intron	p.Q30_splice	NM_001481.2	NP_001472.1	WXS	Illumina GAIIx	Phase_I	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	2	211	+		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)	30			Regulates microtubule-binding (By similarity).		B2RCT1|B7Z4U1|G3V1L5|Q2M234	Splice_Site	SNP	ENST00000268699.4	37	c.90_splice	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414735	0.42817	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000537797	T;T	0.35973	1.28;1.32	5.11	5.11	0.69529	.	0.051871	0.85682	D	0.000000	T	0.54224	0.1845	M	0.86651	2.83	0.80722	D	1	P;P	0.52316	0.897;0.952	P;P	0.49887	0.625;0.521	T	0.63808	-0.6553	9	.	.	.	-48.7826	14.8952	0.70639	1.0:0.0:0.0:0.0	.	30;30	B7Z9B0;O95995	.;GAS8_HUMAN	R	5;30;30	ENSP00000440977:Q5R;ENSP00000268699:Q30R	.	Q	+	2	0	GAS8	88621630	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	7.587000	0.82613	1.946000	0.56461	0.459000	0.35465	CAG		0.612	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2		Missense_Mutation	29	28	0	0	0	1	0	29	28					G	90094129	A	G	90094129	5	3	4	1	0	0	0	0	0	0	1	0	6259	202	7	4	95	4	GAS8	16	90094129	Splice_Site	SNP	A	TCGA-N5-A4RF-01A-11D-A28R-08	20315229	90094129	260624	56	244										
TSR1	55720	broad.mit.edu	37	chr17	2228662	2228662	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	gtgattggcgcatagactgtCgccaccagggccatgtcagc	13	12	1	2			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:2228662C>T	ENST00000301364.5	-	12	3035	c.1956G>A	c.(1954-1956)gcG>gcA	p.A652A		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	652					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						CATAGACTGTCGCCACCAGGG	0.453																																						ENST00000301364.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(1954-1956)gcG>gcA		TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)							97	84	89					17																	2228662		2203	4300	6503	SO:0001819	synonymous_variant	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2228662C>T	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.1956G>A	17.37:g.2228662C>T			Somatic					p.A652A	NM_018128.4	NP_060598.3	WXS	Illumina GAIIx	Phase_I	Q2NL82	TSR1_HUMAN			12	3035	-			652					Q8WUY5|Q9NVT0|Q9P2E6	Silent	SNP	ENST00000301364.5	37	c.1956G>A	CCDS32525.1																																																																																				0.453	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		7	33	0	0	0	1	0	7	33					T	2228662	C	T	2228662	2	4	4	1	0	0	0	0	0	0	0	1	16679	871	31	1		1	TSR1	17	2228662	Silent	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08		2228662	78966548	57	245										
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	p.R248Q	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	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		42	8	0	0	0	1	0	42	8					T	7577538	C	T	7577538	3	4	4	1	0	0	0	0	1	0	0	0	16396	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	5348876	7577538	73617672	58	246										
HOXB9	3219	broad.mit.edu	37	chr17	46700472	46700472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tttttccgggaagagcgagcGtgcagccagttggcggaggg	18	8	0	1	rs371256693	byFrequency	TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:46700472G>A	ENST00000311177.5	-	2	750	c.543C>T	c.(541-543)caC>caT	p.H181H	HOXB7_ENST00000567101.2_Intron|HOXB9_ENST00000550387.1_Missense_Mutation_p.R102C	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	181					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						AAGAGCGAGCGTGCAGCCAGT	0.547													G|||	2	0.000399361	0	0	5008	,	,		19642	0		0	False		,,,				2504	0.002					ENST00000550387.1																			0				breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						c.(304-306)Cgc>Tgc		homeobox B9		G		0,4406		0,0,2203	117	110	112		543	4.5	1	17		112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HOXB9	NM_024017.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		181/251	46700472	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3219				canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46700472G>A		CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"Homeoboxes / ANTP class : HOXL subclass"	5120	protein-coding gene	gene with protein product		142964	"homeo box B9"	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.543C>T	17.37:g.46700472G>A			Somatic				HOXB9_ENST00000311177.5_Silent_p.H181H|HOXB7_ENST00000567101.1_Intron	p.R102C			WXS	Illumina GAIIx	Phase_I	P17482	HXB9_HUMAN			2	507	-			0					B2RDB7|Q9H1I1	Missense_Mutation	SNP	ENST00000311177.5	37	c.304C>T	CCDS11534.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934607	0.52866	0.0	1.16E-4	ENSG00000170689	ENST00000550387	.	.	.	5.71	4.54	0.55810	.	.	.	.	.	T	0.59662	0.2210	.	.	.	0.37945	D	0.932458	.	.	.	.	.	.	T	0.62826	-0.6772	5	0.46703	T	0.11	.	7.4654	0.27318	0.1806:0.1522:0.6671:0.0	.	.	.	.	C	102	.	ENSP00000447530:R102C	R	-	1	0	HOXB9	44055471	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.667000	0.25112	2.699000	0.92147	0.655000	0.94253	CGC		0.547	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2			24	105	0	0	0	1	0	24	105					A	46700472	G	A	46700472	2	1	4	1	0	0	0	0	0	0	0	1	7317	1136	40	1		1	HOXB9	17	46700472	Silent	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	39122934	46700472	34494738	59	247										
PDK2	5164	broad.mit.edu	37	chr17	48184459	48184459	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	gatgcctacgacatggctaaGctcctgtgtgacaagtatta	10	9	0	1			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:48184459G>C	ENST00000503176.1	+	6	788	c.627G>C	c.(625-627)aaG>aaC	p.K209N	PDK2_ENST00000007708.3_Missense_Mutation_p.K145N	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	209	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				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)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						ACATGGCTAAGCTCCTGTGTG	0.562									Autosomal Dominant Polycystic Kidney Disease																													ENST00000503176.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(625-627)aaG>aaC		pyruvate dehydrogenase kinase, isozyme 2							169	119	136					17																	48184459		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.chr17:48184459G>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.627G>C	17.37:g.48184459G>C	ENSP00000420927:p.Lys209Asn		Somatic				PDK2_ENST00000007708.3_Missense_Mutation_p.K145N	p.K209N	NM_002611.4	NP_002602.2	WXS	Illumina GAIIx	Phase_I	Q15119	PDK2_HUMAN			6	788	+			209			Histidine kinase.		A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	ENST00000503176.1	37	c.627G>C	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784818	0.70222	.	.	ENSG00000005882	ENST00000007708;ENST00000503176;ENST00000503614;ENST00000510219	T;T;T;T	0.56941	0.85;0.84;0.43;0.43	4.99	2.96	0.34315	ATPase-like, ATP-binding domain (2);	0.064015	0.64402	D	0.000009	T	0.64461	0.2600	M	0.84585	2.705	0.53005	D	0.999968	D	0.53745	0.962	P	0.51582	0.674	T	0.71646	-0.4530	10	0.87932	D	0	-25.4782	11.0665	0.47979	0.1663:0.0:0.8337:0.0	.	209	Q15119	PDK2_HUMAN	N	145;209;145;114	ENSP00000007708:K145N;ENSP00000420927:K209N;ENSP00000425265:K145N;ENSP00000423310:K114N	ENSP00000007708:K145N	K	+	3	2	PDK2	45539458	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.294000	0.43567	1.235000	0.43724	0.455000	0.32223	AAG		0.562	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611		13	81	0	0	0	1	0	13	81					C	48184459	G	C	48184459	3	2	4	1	0	0	0	0	1	0	0	0	11685	962	34	5	649	5	PDK2	17	48184459	Missense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	1483987	48184459	33010751	60	248										
HLF	3131	broad.mit.edu	37	chr17	53392710	53392710	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	ccagcatccctggccaggaaAtgtttgaccctcgcaaacgc	9	15	0	1	rs371976247		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:53392710A>C	ENST00000226067.5	+	3	1047	c.574A>C	c.(574-576)Atg>Ctg	p.M192L	HLF_ENST00000573945.1_Missense_Mutation_p.M107L|HLF_ENST00000430986.2_Missense_Mutation_p.M107L|HLF_ENST00000575345.1_Missense_Mutation_p.M107L	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	192	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						TGGCCAGGAAATGTTTGACCC	0.517			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.(574-576)Atg>Ctg		hepatic leukemia factor							106	97	100					17																	53392710		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.chr17:53392710A>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.574A>C	17.37:g.53392710A>C	ENSP00000226067:p.Met192Leu		Somatic				HLF_ENST00000573945.1_Missense_Mutation_p.M107L|HLF_ENST00000575345.1_Missense_Mutation_p.M107L|HLF_ENST00000430986.2_Missense_Mutation_p.M107L	p.M192L	NM_002126.4	NP_002117.1	WXS	Illumina GAIIx	Phase_I	Q16534	HLF_HUMAN			3	1047	+			192			Pro-rich (proline/acidic region (PAR)).		A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	c.574A>C	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.386677	0.25031	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	.	.	.	5.6	4.53	0.55603	.	0.106103	0.64402	D	0.000003	T	0.31136	0.0787	N	0.16066	0.365	0.54753	D	0.999988	B;B	0.22346	0.001;0.068	B;B	0.13407	0.002;0.009	T	0.12451	-1.0547	9	0.16420	T	0.52	.	10.252	0.43375	0.9233:0.0:0.0767:0.0	.	140;192	B4DIQ5;Q16534	.;HLF_HUMAN	L	192;107	.	ENSP00000226067:M192L	M	+	1	0	HLF	50747709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.040000	0.64191	2.137000	0.66172	0.533000	0.62120	ATG		0.517	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		49	23	0	0	0	1	0	49	23					C	53392710	A	C	53392710	3	2	4	1	0	0	0	0	1	0	0	0	7223	101	4	4	584	4	HLF	17	53392710	Missense_Mutation	SNP	A	TCGA-N5-A4RF-01A-11D-A28R-08	5208251	53392710	27802500	61	249										
NPLOC4	55666	broad.mit.edu	37	chr17	79563195	79563195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	aatgtccgtctggagagagcCggcacatgttgggatgcttg	15	8	1	1	rs373063460		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:79563195C>T	ENST00000331134.6	-	11	1282	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	NPLOC4_ENST00000539314.1_Missense_Mutation_p.R195Q|NPLOC4_ENST00000374747.5_Missense_Mutation_p.R356Q	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	356					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGAGAGAGCCGGCACATGTT	0.443																																						ENST00000374747.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.(1066-1068)cGg>cAg		nuclear protein localization 4 homolog (S. cerevisiae)		C	GLN/ARG	2,3800		0,2,1899	100	100	100		1067	5.6	1	17		100	0,8230		0,0,4115	no	missense	NPLOC4	NM_017921.2	43	0,2,6014	TT,TC,CC		0.0,0.0526,0.0166	probably-damaging	356/609	79563195	2,12030	1901	4115	6016	SO:0001583	missense	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79563195C>T	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1067G>A	17.37:g.79563195C>T	ENSP00000331487:p.Arg356Gln		Somatic				NPLOC4_ENST00000539314.1_Missense_Mutation_p.R195Q|NPLOC4_ENST00000331134.6_Missense_Mutation_p.R356Q	p.R356Q			WXS	Illumina GAIIx	Phase_I	Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		11	1196	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		356					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	c.1067G>A	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	C	36	5.833804	0.97003	5.26E-4	0.0	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.63	5.63	0.86233	Nuclear pore localisation protein NPL4 (1);	0.000000	0.85682	D	0.000000	D	0.84037	0.5384	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.999	D;D;D	0.69654	0.948;0.965;0.949	D	0.85580	0.1239	9	0.62326	D	0.03	-24.8637	19.7363	0.96205	0.0:1.0:0.0:0.0	.	195;356;356	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	Q	356;355;195	.	ENSP00000331487:R356Q	R	-	2	0	NPLOC4	77173633	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	6.035000	0.70940	2.661000	0.90470	0.650000	0.86243	CGG		0.443	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			57	20	0	0	0	1	0	57	20					T	79563195	C	T	79563195	3	4	4	1	0	0	0	0	1	0	0	0	10595	652	23	1	787	1	NPLOC4	17	79563195	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	26170485	79563195	1632015	62	250										
SERPINB4	6318	broad.mit.edu	37	chr18	61310414	61310414	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	catgatatgttgcagcttttTctgtggtgttctctgtgact	10	7	2	2			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr18:61310414T>C	ENST00000341074.5	-	3	318	c.203A>G	c.(202-204)gAa>gGa	p.E68G	SERPINB4_ENST00000356424.6_Missense_Mutation_p.E68G	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	68					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGCAGCTTTTTCTGTGGTGTT	0.403																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(202-204)gAa>gGa		serpin peptidase inhibitor, clade B (ovalbumin), member 4																																				SO:0001583	missense	6318							g.chr18:61310414T>C	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.203A>G	18.37:g.61310414T>C	ENSP00000343445:p.Glu68Gly		Somatic				SERPINB4_ENST00000356424.6_Missense_Mutation_p.E68G	p.E68G	NM_002974.2	NP_002965.1	WXS	Illumina GAIIx	Phase_I					3	318	-								A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.203A>G	CCDS11986.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.852|4.852	0.158331|0.158331	0.09236|0.09236	.|.	.|.	ENSG00000206073|ENSG00000206073	ENST00000341074;ENST00000356424;ENST00000436264|ENST00000413673	D;D;D|.	0.85013|.	-1.93;-1.92;-1.71|.	3.94|3.94	-0.495|-0.495	0.12030|0.12030	Serpin domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.10809|0.10809	0.0264|0.0264	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.25537|0.25537	-1.0129|-1.0129	9|5	0.22706|.	T|.	0.39|.	.|.	0.8302|0.8302	0.01129|0.01129	0.1646:0.1456:0.3048:0.385|0.1646:0.1456:0.3048:0.385	.|.	68;68|.	P48594;Q9BYF7|.	SPB4_HUMAN;.|.	G|E	68|70	ENSP00000343445:E68G;ENSP00000348795:E68G;ENSP00000399796:E68G|.	ENSP00000343445:E68G|.	E|K	-|-	2|1	0|0	SERPINB4|SERPINB4	59461394|59461394	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.021000|0.021000	0.10359|0.10359	-0.430000|-0.430000	0.06973|0.06973	-0.175000|-0.175000	0.10725|0.10725	0.416000|0.416000	0.27883|0.27883	GAA|AAA		0.403	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		21	31	0	0	0	1	0	21	31					C	61310414	T	C	61310414	3	2	4	1	0	0	0	0	1	0	0	0	14118	1783	62	4	993	4	SERPINB4	18	61310414	Missense_Mutation	SNP	T	TCGA-N5-A4RF-01A-11D-A28R-08		61310414	16766834	63	251										
ZNF700	90592	broad.mit.edu	37	chr19	12060050	12060050	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	agccttcaatctttccagttCctttcgatatcatgaaagga	6	10	3	1			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:12060050C>A	ENST00000254321.5	+	4	1354	c.1211C>A	c.(1210-1212)tCc>tAc	p.S404Y	ZNF700_ENST00000482090.1_Missense_Mutation_p.S386Y|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	404					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CTTTCCAGTTCCTTTCGATAT	0.423																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1156-1158)tCc>tAc		zinc finger protein 700							59	59	59					19																	12060050		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060050C>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1211C>A	19.37:g.12060050C>A	ENSP00000254321:p.Ser404Tyr		Somatic				CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Missense_Mutation_p.S404Y|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron	p.S386Y			WXS	Illumina GAIIx	Phase_I	Q9H0M5	ZN700_HUMAN			3	1575	+			404					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1157C>A	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	8.298	0.819320	0.16607	.	.	ENSG00000196757	ENST00000254321	T	0.16073	2.37	0.672	0.672	0.17935	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27241	0.0668	L	0.42245	1.32	0.09310	N	1	D	0.76494	0.999	D	0.77004	0.989	T	0.13176	-1.0519	9	0.32370	T	0.25	.	7.1436	0.25570	0.0:0.9999:0.0:1.0E-4	.	404	Q9H0M5	ZN700_HUMAN	Y	404	ENSP00000254321:S404Y	ENSP00000254321:S404Y	S	+	2	0	ZNF700	11921050	0.000000	0.05858	0.006000	0.13384	0.139000	0.21198	-1.214000	0.02988	0.623000	0.30267	0.305000	0.20034	TCC		0.423	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		11	52	1	0	3.86212e-05	1	3.96745e-05	11	52					A	12060050	C	A	12060050	3	1	4	1	0	0	0	0	1	0	0	0	18119	855	30	2	1225	2	ZNF700	19	12060050	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08		12060050	47068933	64	252										
SLC1A6	6511	broad.mit.edu	37	chr19	15067364	15067364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	gaaggggttccggtgagtgaCgaggaagtagatgaggggaa	20	3	0	4			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:15067364C>T	ENST00000221742.3	-	6	1100	c.1093G>A	c.(1093-1095)Gtc>Atc	p.V365I	SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000430939.2_Missense_Mutation_p.V301I	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	365					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						CGGTGAGTGACGAGGAAGTAG	0.617																																						ENST00000430939.2																			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.(901-903)Gtc>Atc		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						172	134	147					19																	15067364		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15067364C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1093G>A	19.37:g.15067364C>T	ENSP00000221742:p.Val365Ile		Somatic				SLC1A6_ENST00000221742.3_Missense_Mutation_p.V365I|SLC1A6_ENST00000600144.1_Intron	p.V301I			WXS	Illumina GAIIx	Phase_I	P48664	EAA4_HUMAN			6	1030	-			365					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.901G>A	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	2.021	-0.424764	0.04734	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.58652	0.32;0.32	3.96	-1.06	0.10002	.	0.403999	0.26658	N	0.023178	T	0.29817	0.0745	N	0.05330	-0.07	0.80722	D	1	B;B	0.27853	0.191;0.007	B;B	0.31614	0.133;0.004	T	0.20140	-1.0284	10	0.06236	T	0.91	-11.0254	11.0045	0.47626	0.0:0.7689:0.0:0.2311	.	301;365	E7EV13;P48664	.;EAA4_HUMAN	I	301;365	ENSP00000409386:V301I;ENSP00000221742:V365I	ENSP00000221742:V365I	V	-	1	0	SLC1A6	14928364	0.003000	0.15002	0.925000	0.36789	0.931000	0.56810	0.028000	0.13644	-0.385000	0.07833	-1.397000	0.01146	GTC		0.617	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		19	27	0	0	0	1	0	19	27					T	15067364	C	T	15067364	3	4	4	1	0	0	0	0	1	0	0	0	14451	536	19	1	617	1	SLC1A6	19	15067364	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	3007314	15067364	44061619	65	253										
ZNF493	284443	broad.mit.edu	37	chr19	21606597	21606597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tggagagaaaccctacaaatGtgaagaatgtggcaaagcct	11	7	0	3			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:21606597G>A	ENST00000355504.4	+	2	1018	c.752G>A	c.(751-753)tGt>tAt	p.C251Y	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.C379Y	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CCCTACAAATGTGAAGAATGT	0.368																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1135-1137)tGt>tAt		zinc finger protein 493							42	46	45					19																	21606597		2194	4297	6491	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606597G>A	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.752G>A	19.37:g.21606597G>A	ENSP00000347691:p.Cys251Tyr		Somatic				ZNF493_ENST00000355504.4_Missense_Mutation_p.C251Y|CTD-2561J22.3_ENST00000600810.1_Intron	p.C379Y	NM_001076678.2	NP_001070146.1	WXS	Illumina GAIIx	Phase_I	Q6ZR52	ZN493_HUMAN			4	1245	+			251					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1136G>A	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	11.48	1.650427	0.29336	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	D;D	0.85088	-1.94;-1.94	0.966	0.966	0.19667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92760	0.7698	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.993	D	0.91470	0.5196	9	0.87932	D	0	.	8.7434	0.34571	0.0:0.0:1.0:0.0	.	251;379	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	Y	379;251	ENSP00000376110:C379Y;ENSP00000347691:C251Y	ENSP00000347691:C251Y	C	+	2	0	ZNF493	21398437	0.922000	0.31269	0.472000	0.27241	0.464000	0.32679	2.943000	0.49026	0.393000	0.25203	0.399000	0.26434	TGT		0.368	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		6	44	0	0	0	1	0	6	44					A	21606597	G	A	21606597	3	1	4	1	0	0	0	0	1	0	0	0	17959	1377	48	3	1213	3	ZNF493	19	21606597	Missense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	6539233	21606597	37522386	66	254										
ZNF676	163223	broad.mit.edu	37	chr19	22364200	22364200	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	aaatactttgctctgtgtagTtgttaaactctggttaagtt	8	5	2	0			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:22364200T>A	ENST00000397121.2	-	3	636	c.319A>T	c.(319-321)Act>Tct	p.T107S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	107					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)				CTCTGTGTAGTTGTTAAACTC	0.333																																						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.(319-321)Act>Tct		zinc finger protein 676							140	131	134					19																	22364200		1993	4186	6179	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364200T>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.319A>T	19.37:g.22364200T>A	ENSP00000380310:p.Thr107Ser		Somatic					p.T107S	NM_001001411.2	NP_001001411.2	WXS	Illumina GAIIx	Phase_I	Q8N7Q3	ZN676_HUMAN			3	636	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	107					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.319A>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	5.035	0.192163	0.09599	.	.	ENSG00000196109	ENST00000397121	T	0.07021	3.23	0.398	-0.797	0.10909	.	.	.	.	.	T	0.09642	0.0237	M	0.83953	2.67	0.09310	N	1	P	0.48764	0.915	B	0.41088	0.347	T	0.30937	-0.9961	9	0.13108	T	0.6	.	3.6591	0.08232	0.0:0.3216:0.0:0.6784	.	107	Q8N7Q3	ZN676_HUMAN	S	107	ENSP00000380310:T107S	ENSP00000380310:T107S	T	-	1	0	ZNF676	22156040	0.000000	0.05858	0.003000	0.11579	0.198000	0.23893	-0.844000	0.04345	-0.456000	0.07043	0.156000	0.16432	ACT		0.333	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		27	40	0	0	0	1	0	27	40					A	22364200	T	A	22364200	3	1	4	1	0	0	0	0	1	0	0	0	18098	1725	60	4	1451	4	ZNF676	19	22364200	Missense_Mutation	SNP	T	TCGA-N5-A4RF-01A-11D-A28R-08	757603	22364200	36764783	67	255										
FXYD5	53827	broad.mit.edu	37	chr19	35657174	35657174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	atgaacacaccctccggaaaCgggggctgttggtcgcagct	13	12	0	1			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:35657174C>T	ENST00000342879.3	+	7	1211	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	FXYD5_ENST00000392219.2_Missense_Mutation_p.R145W|FXYD5_ENST00000423817.3_Missense_Mutation_p.R145W|FXYD5_ENST00000588699.1_Missense_Mutation_p.R145W|FXYD5_ENST00000590686.1_Missense_Mutation_p.R145W|FXYD5_ENST00000543307.1_Missense_Mutation_p.R145W|FXYD5_ENST00000541435.2_Missense_Mutation_p.R145W|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392217.3_Missense_Mutation_p.R74W			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	145					microvillus assembly (GO:0030033)|negative regulation of calcium-dependent cell-cell adhesion (GO:0046588)	integral component of membrane (GO:0016021)	actin binding (GO:0003779)|cadherin binding (GO:0045296)|ion channel activity (GO:0005216)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCTCCGGAAACGGGGGCTGTT	0.552																																						ENST00000342879.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(433-435)Cgg>Tgg		FXYD domain containing ion transport regulator 5							195	199	197					19																	35657174		2203	4300	6503	SO:0001583	missense	53827				microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity	g.chr19:35657174C>T	AF161462	CCDS12447.1	19q13.12	2008-02-05	2002-01-14		ENSG00000089327	ENSG00000089327			4029	protein-coding gene	gene with protein product	"dysadherin"	606669	"FXYD domain-containing ion transport regulator 5"				Standard	NM_144779		Approved	OIT2	uc002nyg.2	Q96DB9	OTTHUMG00000048092	ENST00000342879.3:c.433C>T	19.37:g.35657174C>T	ENSP00000344254:p.Arg145Trp		Somatic				FXYD5_ENST00000541435.2_Missense_Mutation_p.R145W|FXYD5_ENST00000590686.1_Missense_Mutation_p.R145W|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392217.3_Missense_Mutation_p.R74W|FXYD5_ENST00000588699.1_Missense_Mutation_p.R145W|FXYD5_ENST00000543307.1_Missense_Mutation_p.R145W|FXYD5_ENST00000392219.2_Missense_Mutation_p.R145W|FXYD5_ENST00000423817.3_Missense_Mutation_p.R145W	p.R145W			WXS	Illumina GAIIx	Phase_I	Q96DB9	FXYD5_HUMAN	Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)		7	1211	+	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		145					B7WNZ8|Q6UW44|Q9HC34|Q9P039	Missense_Mutation	SNP	ENST00000342879.3	37	c.433C>T	CCDS12447.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885248	0.72410	.	.	ENSG00000089327	ENST00000543307;ENST00000392219;ENST00000541435;ENST00000342879;ENST00000423817;ENST00000392217	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.17	2.85	0.33270	.	0.564744	0.17017	N	0.190267	T	0.72969	0.3527	L	0.57536	1.79	0.34773	D	0.733918	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.984;0.998	T	0.79162	-0.1917	10	0.66056	D	0.02	-12.5055	10.1426	0.42744	0.4077:0.5923:0.0:0.0	.	145;74;145	F5H4X8;Q96DB9-2;Q96DB9	.;.;FXYD5_HUMAN	W	145;145;145;145;145;74	ENSP00000444839:R145W;ENSP00000376053:R145W;ENSP00000443390:R145W;ENSP00000344254:R145W;ENSP00000393848:R145W;ENSP00000376051:R74W	ENSP00000344254:R145W	R	+	1	2	FXYD5	40349014	0.546000	0.26457	0.981000	0.43875	0.945000	0.59286	0.671000	0.25172	1.328000	0.45358	0.563000	0.77884	CGG		0.552	FXYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109443.1	NM_014164		55	105	0	0	0	1	0	55	105					T	35657174	C	T	35657174	3	4	4	1	0	0	0	0	1	0	0	0	6129	527	19	1	459	1	FXYD5	19	35657174	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	13292974	35657174	23471809	68	256										
MLL4	9757	broad.mit.edu	37	chr19	36221463	36221463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	catccgcattgactccctggGtactctgtctgatctctcgg	9	14	3	2			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:36221463G>A	ENST00000222270.7	+	25	5222	c.5222G>A	c.(5221-5223)gGt>gAt	p.G1741D	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.G1741D	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1741	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				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)										GACTCCCTGGGTACTCTGTCT	0.627																																						ENST00000222270.7																			0											c.(5221-5223)gGt>gAt									243	255	251					19																	36221463		2179	4271	6450	SO:0001583	missense	0							g.chr19:36221463G>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.5222G>A	19.37:g.36221463G>A	ENSP00000222270:p.Gly1741Asp		Somatic				KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.G1741D	p.G1741D	NM_014727.1	NP_055542.1	WXS	Illumina GAIIx	Phase_I					25	5222	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.5222G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112075	0.77210	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.99591	-6.24;-6.24	5.79	5.79	0.91817	FY-rich, N-terminal (1);FY-rich, N-terminal subgroup (1);	0.000000	0.45867	D	0.000338	D	0.99701	0.9886	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97859	1.0279	10	0.87932	D	0	.	18.7978	0.92003	0.0:0.0:1.0:0.0	.	1741	Q9UMN6	MLL4_HUMAN	D	1741	ENSP00000222270:G1741D;ENSP00000398837:G1741D	ENSP00000222270:G1741D	G	+	2	0	AD000671.1	40913303	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.810000	0.99221	2.735000	0.93741	0.655000	0.94253	GGT		0.627	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		128	161	0	0	0	1	0	128	161					A	36221463	G	A	36221463	3	1	4	1	0	0	0	0	1	0	0	0	9632	1261	44	3	5320	3	MLL4	19	36221463	Missense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	564289	36221463	22907520	69	257										
MLL4	9757	broad.mit.edu	37	chr19	36222829	36222829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	agcccccaggtggtgaggacCccccactggacacagatgtt	12	14	0	2			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:36222829C>T	ENST00000222270.7	+	27	5458	c.5458C>T	c.(5458-5460)Ccc>Tcc	p.P1820S	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.P1820S	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1820					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)										TGGTGAGGACCCCCCACTGGA	0.617																																						ENST00000222270.7																			0											c.(5458-5460)Ccc>Tcc									35	40	39					19																	36222829		2002	4145	6147	SO:0001583	missense	0							g.chr19:36222829C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5458C>T	19.37:g.36222829C>T	ENSP00000222270:p.Pro1820Ser		Somatic				KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.P1820S	p.P1820S	NM_014727.1	NP_055542.1	WXS	Illumina GAIIx	Phase_I					27	5458	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.5458C>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	5.209	0.224117	0.09863	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.82344	-1.6;-1.6	4.85	-4.04	0.04010	.	0.540328	0.15484	N	0.259937	T	0.57755	0.2075	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50684	-0.8799	10	0.07644	T	0.81	.	1.8219	0.03112	0.1291:0.3829:0.1265:0.3614	.	1820	Q9UMN6	MLL4_HUMAN	S	1820	ENSP00000222270:P1820S;ENSP00000398837:P1820S	ENSP00000222270:P1820S	P	+	1	0	AD000671.1	40914669	0.004000	0.15560	0.002000	0.10522	0.220000	0.24768	0.150000	0.16263	-0.577000	0.05967	-0.136000	0.14681	CCC		0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		9	27	0	0	0	1	0	9	27					T	36222829	C	T	36222829	3	4	4	1	0	0	0	0	1	0	0	0	9632	623	22	3	5564	3	MLL4	19	36222829	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	1366	36222829	22906154	70	258										
RSPH6A	81492	broad.mit.edu	37	chr19	46314094	46314094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	cagcagattcaccaggtgctCgtacctgcctcccgcaggag	11	15	1	1			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:46314094C>T	ENST00000221538.3	-	2	797	c.655G>A	c.(655-657)Gag>Aag	p.E219K	RSPH6A_ENST00000600188.1_5'UTR|RSPH6A_ENST00000597055.1_Missense_Mutation_p.E219K	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	219						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						ACCAGGTGCTCGTACCTGCCT	0.627																																						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.(655-657)Gag>Aag		radial spoke head 6 homolog A (Chlamydomonas)							30	30	30					19																	46314094		2203	4300	6503	SO:0001583	missense	81492					intracellular		g.chr19:46314094C>T	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.655G>A	19.37:g.46314094C>T	ENSP00000221538:p.Glu219Lys		Somatic				RSPH6A_ENST00000597055.1_Missense_Mutation_p.E219K|RSPH6A_ENST00000600188.1_5'UTR	p.E219K	NM_030785.3	NP_110412.1	WXS	Illumina GAIIx	Phase_I	Q9H0K4	RSH6A_HUMAN			2	797	-			219					Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	c.655G>A	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062405	0.93898	.	.	ENSG00000104941	ENST00000221538	T	0.17528	2.27	4.82	4.82	0.62117	.	0.104079	0.64402	D	0.000005	T	0.36413	0.0966	L	0.58583	1.82	0.46609	D	0.999122	D	0.76494	0.999	D	0.64877	0.93	T	0.03728	-1.1009	10	0.59425	D	0.04	-9.7378	15.8574	0.78989	0.0:1.0:0.0:0.0	.	219	Q9H0K4	RSH6A_HUMAN	K	219	ENSP00000221538:E219K	ENSP00000221538:E219K	E	-	1	0	RSPH6A	51005934	0.999000	0.42202	0.855000	0.33649	0.935000	0.57460	4.664000	0.61540	2.689000	0.91719	0.650000	0.86243	GAG		0.627	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			7	14	0	0	0	1	0	7	14					T	46314094	C	T	46314094	3	4	4	1	0	0	0	0	1	0	0	0	13722	893	31	1	1518	1	RSPH6A	19	46314094	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	10091265	46314094	12814889	71	259										
PPP2R1A	5518	broad.mit.edu	37	chr19	52716323	52716323	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	ccaggccgctgaagacaagtCctggcgcgtccgctacatgg	13	14	0	2			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:52716323C>A	ENST00000322088.6	+	6	825	c.767C>A	c.(766-768)tCc>tAc	p.S256Y	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S77Y|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S201Y	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	256	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.S256F(11)|p.S256Y(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GAAGACAAGTCCTGGCGCGTC	0.617			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		16	Substitution - Missense(16)	p.S256F(11)|p.S256Y(5)	endometrium(15)|ovary(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(766-768)tCc>tAc		protein phosphatase 2, regulatory subunit A, alpha							43	39	41					19																	52716323		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52716323C>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.767C>A	19.37:g.52716323C>A	ENSP00000324804:p.Ser256Tyr		Somatic				PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S201Y|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S77Y	p.S256Y	NM_014225.5	NP_055040.2	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	6	825	+			256			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.767C>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581561	0.86748	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.36878	1.23;1.23	4.48	4.48	0.54585	Armadillo-like helical (1);Armadillo-type fold (1);	0.105490	0.41001	D	0.000967	T	0.69753	0.3146	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.992;0.992	T	0.79401	-0.1819	10	0.87932	D	0	-23.4629	15.0763	0.72080	0.0:1.0:0.0:0.0	.	201;256;256	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	Y	246;176;256;201	ENSP00000324804:S256Y;ENSP00000415067:S201Y	ENSP00000324804:S256Y	S	+	2	0	PPP2R1A	57408135	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.017000	0.64047	2.490000	0.84030	0.655000	0.94253	TCC		0.617	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		14	36	1	0	1.5842e-08	1	1.68882e-08	14	36					A	52716323	C	A	52716323	3	1	4	1	0	0	0	0	1	0	0	0	12394	855	30	2	789	2	PPP2R1A	19	52716323	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	6402229	52716323	6412660	72	260										
ZNF444	55311	broad.mit.edu	37	chr19	56658404	56658404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	gggaggcgctggggctgctcCgcgccctgtgccgggactgg	20	13	0	0			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:56658404C>T	ENST00000337080.3	+	3	491	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	ZNF444_ENST00000592949.1_Missense_Mutation_p.R42C	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	42	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)			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GGGGCTGCTCCGCGCCCTGTG	0.746																																						ENST00000337080.3																			0				NS(1)|endometrium(1)|lung(5)	7						c.(124-126)Cgc>Tgc		zinc finger protein 444							6	7	7					19																	56658404		1986	3949	5935	SO:0001583	missense	55311				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56658404C>T	AB052954	CCDS12939.1, CCDS59426.1	19q13.43	2013-01-09			ENSG00000167685	ENSG00000167685		"-", "Zinc fingers, C2H2-type"	16052	protein-coding gene	gene with protein product		607874				11978792, 19760602	Standard	NM_001253792		Approved	ZSCAN17, FLJ11137, EZF2	uc002qmm.3	Q8N0Y2		ENST00000337080.3:c.124C>T	19.37:g.56658404C>T	ENSP00000338860:p.Arg42Cys		Somatic				ZNF444_ENST00000592949.1_Missense_Mutation_p.R42C	p.R42C	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	WXS	Illumina GAIIx	Phase_I	Q8N0Y2	ZN444_HUMAN		GBM - Glioblastoma multiforme(193;0.0531)	3	491	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	42			SCAN box.		Q8TEQ9|Q8WU35|Q9NUU1	Missense_Mutation	SNP	ENST00000337080.3	37	c.124C>T	CCDS12939.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982753	0.74474	.	.	ENSG00000167685	ENST00000337080	T	0.05855	3.38	3.7	3.7	0.42460	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.24967	0.0606	M	0.83692	2.655	0.45621	D	0.99855	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	T	0.01884	-1.1254	9	0.72032	D	0.01	.	11.6447	0.51255	0.0:1.0:0.0:0.0	.	42;42	Q8N0Y2-2;Q8N0Y2	.;ZN444_HUMAN	C	42	ENSP00000338860:R42C	ENSP00000338860:R42C	R	+	1	0	ZNF444	61350216	0.008000	0.16893	0.824000	0.32777	0.860000	0.49131	1.109000	0.31135	2.002000	0.58637	0.484000	0.47621	CGC		0.746	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457503.1	NM_018337		12	10	0	0	0	1	0	12	10					T	56658404	C	T	56658404	3	4	4	1	0	0	0	0	1	0	0	0	17932	652	23	1	126	1	ZNF444	19	56658404	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	3942081	56658404	2470579	73	261										
ESF1	51575	broad.mit.edu	37	chr20	13763375	13763375	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	acatgaggttttcattttttTaattcctatagaattatcta	4	5	2	2			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr20:13763375T>A	ENST00000202816.1	-	2	519	c.412A>T	c.(412-414)Aaa>Taa	p.K138*	NDUFAF5_ENST00000463598.1_5'Flank|NDUFAF5_ENST00000378106.5_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	138	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						TTCATTTTTTTAATTCCTATA	0.259																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(412-414)Aaa>Taa		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							32	34	33					20																	13763375		2182	4271	6453	SO:0001587	stop_gained	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13763375T>A		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.412A>T	20.37:g.13763375T>A	ENSP00000202816:p.Lys138*		Somatic					p.K138*	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	WXS	Illumina GAIIx	Phase_I	Q9H501	ESF1_HUMAN			2	519	-			138			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Nonsense_Mutation	SNP	ENST00000202816.1	37	c.412A>T	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.583304	0.65992	.	.	ENSG00000089048	ENST00000202816	.	.	.	4.96	-1.6	0.08426	.	1.605880	0.03301	N	0.189052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	7.4703	0.27344	0.1137:0.0:0.1568:0.7295	.	.	.	.	X	138	.	ENSP00000202816:K138X	K	-	1	0	ESF1	13711375	0.004000	0.15560	0.706000	0.30403	0.274000	0.26718	-0.021000	0.12504	0.077000	0.16863	-0.452000	0.05504	AAA		0.259	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		7	21	0	0	0	1	0	7	21					A	13763375	T	A	13763375	4	1	4	1	0	0	0	0	0	1	0	0	5253	1763	61	4	2195	4	ESF1	20	13763375	Nonsense_Mutation	SNP	T	TCGA-N5-A4RF-01A-11D-A28R-08		13763375	49262145	74	262										
KRTAP24-1	643803	broad.mit.edu	37	chr21	31654815	31654815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	aaagcagttggaaccgttgcGgagggtttggcaggctttgg	17	6	0	0			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr21:31654815G>A	ENST00000340345.4	-	1	461	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	146						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GAACCGTTGCGGAGGGTTTGG	0.498																																						ENST00000340345.4																			0				breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						c.(436-438)Cgc>Tgc		keratin associated protein 24-1							118	121	120					21																	31654815		1982	4168	6150	SO:0001583	missense	643803					keratin filament	structural molecule activity	g.chr21:31654815G>A	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"Keratin associated proteins"	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.436C>T	21.37:g.31654815G>A	ENSP00000339238:p.Arg146Cys		Somatic					p.R146C	NM_001085455.1	NP_001078924.1	WXS	Illumina GAIIx	Phase_I	Q3LI83	KR241_HUMAN			1	461	-			146					Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	37	c.436C>T	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	A	7.162	0.585873	0.13749	.	.	ENSG00000188694	ENST00000340345	T	0.03413	3.94	4.96	-8.14	0.01069	.	2.042920	0.02141	N	0.057195	T	0.02230	0.0069	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40478	-0.9561	10	0.35671	T	0.21	1.7357	0.6659	0.00850	0.3273:0.1621:0.2982:0.2124	.	146	Q3LI83	KR241_HUMAN	C	146	ENSP00000339238:R146C	ENSP00000339238:R146C	R	-	1	0	KRTAP24-1	30576686	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.920000	0.04013	-1.739000	0.01347	-3.876000	0.00017	CGC		0.498	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455		27	65	0	0	0	1	0	27	65					A	31654815	G	A	31654815	3	1	4	1	0	0	0	0	1	0	0	0	8551	1116	39	1	332	1	KRTAP24-1	21	31654815	Missense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08		31654815	16475080	75	263										
DSCR3	10311	broad.mit.edu	37	chr21	38600596	38600596	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	cgagctctccaccaccagctCtcccgttagtggctgcgtga	10	16	2	1			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr21:38600596C>T	ENST00000309117.6	-	6	823	c.586G>A	c.(586-588)Gag>Aag	p.E196K	DSCR3_ENST00000288304.5_Missense_Mutation_p.R153K|DSCR3_ENST00000476950.1_Missense_Mutation_p.E169K|DSCR3_ENST00000399001.1_Missense_Mutation_p.E71K|DSCR3_ENST00000539844.1_Missense_Mutation_p.E119K|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000398998.1_Missense_Mutation_p.E148K|AP001432.14_ENST00000440629.1_lincRNA	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	196						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						ACCACCAGCTCTCCCGTTAGT	0.557																																						ENST00000288304.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(457-459)aGa>aAa		Down syndrome critical region gene 3							72	68	70					21																	38600596		2203	4300	6503	SO:0001583	missense	10311				vacuolar transport	nucleus|retromer complex		g.chr21:38600596C>T	D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.586G>A	21.37:g.38600596C>T	ENSP00000311399:p.Glu196Lys		Somatic				DSCR3_ENST00000476950.1_Missense_Mutation_p.E169K|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000398998.1_Missense_Mutation_p.E148K|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000399001.1_Missense_Mutation_p.E71K|DSCR3_ENST00000309117.6_Missense_Mutation_p.E196K|DSCR3_ENST00000539844.1_Missense_Mutation_p.E119K	p.R153K			WXS	Illumina GAIIx	Phase_I	O14972	DSCR3_HUMAN			7	1250	-			188					B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Missense_Mutation	SNP	ENST00000309117.6	37	c.458G>A	CCDS33553.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.29|13.29	2.194288|2.194288	0.38806|0.38806	.|.	.|.	ENSG00000157538|ENSG00000157538	ENST00000309117;ENST00000539844;ENST00000399001;ENST00000476950;ENST00000398998|ENST00000471543;ENST00000288304	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71074|0.71074	0.3297|0.3297	M|M	0.83692|0.83692	2.655|2.655	0.33116|0.33116	D|D	0.541162|0.541162	P;D;B;B|.	0.56746|.	0.951;0.977;0.394;0.364|.	P;P;B;B|.	0.61003|.	0.801;0.882;0.329;0.188|.	T|T	0.72491|0.72491	-0.4277|-0.4277	8|6	.|0.09338	.|T	.|0.73	-40.6351|-40.6351	19.3643|19.3643	0.94456|0.94456	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	71;119;169;196|.	A8MY26;B7Z606;B7Z6B1;O14972|.	.;.;.;DSCR3_HUMAN|.	K|K	196;119;71;169;148|1;153	.|.	.|ENSP00000288304:R153K	E|R	-|-	1|2	0|0	DSCR3|DSCR3	37522466|37522466	0.999000|0.999000	0.42202|0.42202	0.960000|0.960000	0.40013|0.40013	0.711000|0.711000	0.40976|0.40976	4.034000|4.034000	0.57289|0.57289	2.659000|2.659000	0.90383|0.90383	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.557	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194807.1			25	47	0	0	0	1	0	25	47					T	38600596	C	T	38600596	3	4	4	1	0	0	0	0	1	0	0	0	4773	922	32	3	319	3	DSCR3	21	38600596	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	6945781	38600596	9529299	76	264										
TBX1	6899	broad.mit.edu	37	chr22	19750852	19750852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tggacttcgtgccggtggacGataagcgctaccggtgagcg	16	10	0	1			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr22:19750852G>A	ENST00000329705.7	+	4	628	c.499G>A	c.(499-501)Gat>Aat	p.D167N	TBX1_ENST00000359500.3_Missense_Mutation_p.D167N|TBX1_ENST00000332710.4_Missense_Mutation_p.D167N	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	167					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)				GCCGGTGGACGATAAGCGCTA	0.612																																						ENST00000332710.4																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(499-501)Gat>Aat		T-box 1							155	118	130					22																	19750852		2203	4300	6503	SO:0001583	missense	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.chr22:19750852G>A	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.499G>A	22.37:g.19750852G>A	ENSP00000331176:p.Asp167Asn		Somatic				TBX1_ENST00000359500.3_Missense_Mutation_p.D167N|TBX1_ENST00000329705.7_Missense_Mutation_p.D167N	p.D167N	NM_080647.1	NP_542378.1	WXS	Illumina GAIIx	Phase_I	O43435	TBX1_HUMAN			4	628	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	167					C6G493|C6G494|O43436|Q96RJ2	Missense_Mutation	SNP	ENST00000329705.7	37	c.499G>A	CCDS13766.1	.	.	.	.	.	.	.	.	.	.	g	29.0	4.965570	0.92855	.	.	ENSG00000184058	ENST00000332710;ENST00000329705;ENST00000359500	D;D;D	0.89270	-2.49;-2.49;-2.49	5.08	5.08	0.68730	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.89767	0.6810	L	0.41710	1.295	0.80722	D	1	D;P;P	0.56746	0.977;0.871;0.791	P;P;B	0.54590	0.756;0.462;0.437	D	0.88353	0.2982	10	0.30854	T	0.27	.	18.4713	0.90776	0.0:0.0:1.0:0.0	.	167;167;167	Q152R5;O43435;D9ZGG0	.;TBX1_HUMAN;.	N	167	ENSP00000331791:D167N;ENSP00000331176:D167N;ENSP00000352483:D167N	ENSP00000331176:D167N	D	+	1	0	TBX1	18130852	1.000000	0.71417	0.998000	0.56505	0.555000	0.35460	8.020000	0.88740	2.349000	0.79799	0.543000	0.68304	GAT		0.612	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		31	35	0	0	0	1	0	31	35					A	19750852	G	A	19750852	3	1	4	1	0	0	0	0	1	0	0	0	15665	1058	37	1	509	1	TBX1	22	19750852	Missense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08		19750852	31553714	77	265										
EP300	2033	broad.mit.edu	37	chr22	41489056	41489057	+	Frame_Shift_Ins	INS	-	-	A													0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	cgccttcagccaagcggcctINSaaactctcatctccggccct							TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr22:41489056_41489057insA	ENST00000263253.7	+	1	1267_1268	c.48_49insA	c.(49-51)aaafs	p.K17fs	MIR1281_ENST00000408233.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	17	Interaction with ALX1.|Interaction with RORA.				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)	p.K17E(1)		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						CCAAGCGGCCTAAACTCTCATC	0.55			"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"		1	Substitution - Missense(1)	p.K17E(1)	urinary_tract(1)	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.(46-51)ccaactfs		E1A binding protein p300																																				SO:0001589	frameshift_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.chr22:41489056_41489057insA	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.51dupA	22.37:g.41489059_41489059dupA	ENSP00000263253:p.Lys17fs		Somatic					p.T17fs	NM_001429.3	NP_001420.2	WXS	Illumina GAIIx	Phase_I	Q09472	EP300_HUMAN			1	1267_1268	+			17			Interaction with ALX1.		B1AKC2	Frame_Shift_Ins	INS	ENST00000263253.7	37	c.48_49insA	CCDS14010.1																																																																																				0.55	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		72	114						72	114	---	---	---	---	A	41489057	-	A	41489056	7	5	4	1	0	1	1	0	0	0	0	0	5150	1509	53	0	50	0	EP300	22	41489056	Frame_Shift_Ins	INS	-	TCGA-N5-A4RF-01A-11D-A28R-08	21738204	41489056	9815510	78	266										
RBBP7	5931	broad.mit.edu	37	chrX	16870879	16870879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	aaaacttcgaaaccttatccGcagagccggtggctagaata	9	10	0	2			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:16870879G>A	ENST00000380087.2	-	7	1238	c.878C>T	c.(877-879)gCg>gTg	p.A293V	RBBP7_ENST00000380084.4_Missense_Mutation_p.A337V|RBBP7_ENST00000404022.1_Missense_Mutation_p.A284V			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	293					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					AACCTTATCCGCAGAGCCGGT	0.428																																						ENST00000380087.2																			0				biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25						c.(877-879)gCg>gTg		retinoblastoma binding protein 7							102	103	103					X																	16870879		2203	4300	6503	SO:0001583	missense	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16870879G>A	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"WD repeat domain containing"	9890	protein-coding gene	gene with protein product	"G1/S transition control protein-binding protein RbAp46", "retinoblastoma-binding protein 7", "retinoblastoma-binding protein RbAp46", "histone acetyltransferase type B subunit 2", "retinoblastoma-binding protein p46"	300825	"retinoblastoma-binding protein 7"			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.878C>T	X.37:g.16870879G>A	ENSP00000369427:p.Ala293Val		Somatic				RBBP7_ENST00000404022.1_Missense_Mutation_p.A284V|RBBP7_ENST00000380084.4_Missense_Mutation_p.A337V	p.A293V			WXS	Illumina GAIIx	Phase_I	Q16576	RBBP7_HUMAN			7	1238	-	Hepatocellular(33;0.0997)		293					Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	c.878C>T	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	G	33	5.290736	0.95546	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000444437;ENST00000416035	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.046204	0.85682	D	0.000000	T	0.54598	0.1868	L	0.41961	1.31	0.80722	D	1	P;D;P	0.54047	0.825;0.964;0.945	B;B;B	0.43123	0.109;0.409;0.344	T	0.62025	-0.6941	10	0.87932	D	0	-8.8073	17.3261	0.87248	0.0:0.0:1.0:0.0	.	284;293;337	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	V	293;337;284;97;213	ENSP00000369427:A293V;ENSP00000369424:A337V;ENSP00000386068:A284V;ENSP00000402796:A97V;ENSP00000392714:A213V	ENSP00000369424:A337V	A	-	2	0	RBBP7	16780800	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.809000	0.99208	2.392000	0.81423	0.600000	0.82982	GCG		0.428	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		145	93	0	0	0	1	0	145	93					A	16870879	G	A	16870879	3	1	4	1	0	0	0	0	1	0	0	0	13119	1087	38	1	423	1	RBBP7	23	16870879	Missense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08		16870879	138399681	79	267										
PDK3	5165	broad.mit.edu	37	chrX	24549846	24549846	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	aaggagatctgaaactgtatTccatggaaggagtgggtact	13	5	1	2			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:24549846T>A	ENST00000379162.4	+	10	1271	c.1036T>A	c.(1036-1038)Tcc>Acc	p.S346T	PDK3_ENST00000441463.2_Missense_Mutation_p.S346T	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	346	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						GAAACTGTATTCCATGGAAGG	0.358																																						ENST00000441463.2																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1036-1038)Tcc>Acc		pyruvate dehydrogenase kinase, isozyme 3							304	250	269					X																	24549846		2203	4300	6503	SO:0001583	missense	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:24549846T>A	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.1036T>A	X.37:g.24549846T>A	ENSP00000368460:p.Ser346Thr		Somatic				PDK3_ENST00000379162.4_Missense_Mutation_p.S346T	p.S346T	NM_001142386.2	NP_001135858.1	WXS	Illumina GAIIx	Phase_I	Q15120	PDK3_HUMAN			10	1036	+			346			Histidine kinase.		B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	c.1036T>A	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.595502	0.86953	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	D;D	0.83075	-1.68;-1.68	5.26	5.26	0.73747	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.91808	0.7408	M	0.88310	2.945	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69824	0.966;0.966	D	0.93150	0.6549	10	0.66056	D	0.02	.	14.2518	0.66026	0.0:0.0:0.0:1.0	.	346;346	B4DXG6;Q15120	.;PDK3_HUMAN	T	346	ENSP00000368460:S346T;ENSP00000387536:S346T	ENSP00000368460:S346T	S	+	1	0	PDK3	24459767	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.525000	0.81892	1.941000	0.56285	0.441000	0.28932	TCC		0.358	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		78	118	0	0	0	1	0	78	118					A	24549846	T	A	24549846	3	1	4	1	0	0	0	0	1	0	0	0	11686	1783	62	4	1074	4	PDK3	23	24549846	Missense_Mutation	SNP	T	TCGA-N5-A4RF-01A-11D-A28R-08	7678967	24549846	130720714	80	268										
DMD	1756	broad.mit.edu	37	chrX	32305742	32305742	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	ccctttccacaggcgttgcaCtttgcaatgctgctgtcttc	8	14	1	0			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:32305742C>A	ENST00000357033.4	-	43	6400	c.6194G>T	c.(6193-6195)aGt>aTt	p.S2065I	DMD_ENST00000378677.2_Missense_Mutation_p.S2061I	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	2065					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)				AGGCGTTGCACTTTGCAATGC	0.388																																						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.(6193-6195)aGt>aTt		dystrophin							142	115	124					X																	32305742		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:32305742C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6194G>T	X.37:g.32305742C>A	ENSP00000354923:p.Ser2065Ile		Somatic				DMD_ENST00000378677.2_Missense_Mutation_p.S2061I	p.S2065I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	WXS	Illumina GAIIx	Phase_I	P11532	DMD_HUMAN			43	6400	-		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)	2065					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6194G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	6.854	0.526901	0.13066	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.53640	0.61;0.61	4.36	2.56	0.30785	.	0.000000	0.43579	U	0.000558	T	0.40767	0.1130	L	0.40543	1.245	0.80722	D	1	P;P;P;P;P	0.40266	0.571;0.473;0.624;0.71;0.71	B;B;B;B;B	0.43413	0.221;0.129;0.329;0.419;0.324	T	0.19910	-1.0291	10	0.38643	T	0.18	.	10.0648	0.42297	0.0:0.748:0.0:0.252	.	2057;2065;2061;724;721	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	I	2057;724;721;2061;2065;2065;1942	ENSP00000367948:S2061I;ENSP00000354923:S2065I	ENSP00000354923:S2065I	S	-	2	0	DMD	32215663	0.998000	0.40836	0.115000	0.21578	0.121000	0.20230	0.756000	0.26419	0.950000	0.37743	0.600000	0.82982	AGT		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		23	54	1	0	1.10923e-09	1	1.19374e-09	23	54					A	32305742	C	A	32305742	3	1	4	1	0	0	0	0	1	0	0	0	4582	565	20	5	5159	5	DMD	23	32305742	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	7755896	32305742	122964818	81	269										
DLG3	1741	broad.mit.edu	37	chrX	69699084	69699084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	ctctgggtctgggtccctccGaacaagtgaaaagaggtcct	12	11	2	2			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:69699084G>A	ENST00000374360.3	+	10	1723	c.1490G>A	c.(1489-1491)cGa>cAa	p.R497Q	DLG3_ENST00000194900.4_Missense_Mutation_p.R515Q|DLG3_ENST00000374355.3_Missense_Mutation_p.R160Q|DLG3_ENST00000542398.1_Missense_Mutation_p.R14Q	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	497					axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGGTCCCTCCGAACAAGTGAA	0.498																																						ENST00000194900.4																			0				endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22						c.(1543-1545)cGa>cAa		discs, large homolog 3 (Drosophila)							167	149	155					X																	69699084		2203	4300	6503	SO:0001583	missense	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69699084G>A	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"neuroendocrine-dlg", "protein phosphatase 1, regulatory subunit 82"	300189	"discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1490G>A	X.37:g.69699084G>A	ENSP00000363480:p.Arg497Gln		Somatic				DLG3_ENST00000374360.3_Missense_Mutation_p.R497Q|DLG3_ENST00000542398.1_Missense_Mutation_p.R14Q|DLG3_ENST00000374355.3_Missense_Mutation_p.R160Q	p.R515Q			WXS	Illumina GAIIx	Phase_I	Q92796	DLG3_HUMAN			11	1885	+	Renal(35;0.156)		497			SH3.		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	c.1544G>A	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.381357	0.61845	.	.	ENSG00000082458	ENST00000194900;ENST00000374360;ENST00000374355;ENST00000542398	T;T;T;T	0.16897	2.59;2.56;2.31;3.06	5.43	5.43	0.79202	Src homology-3 domain (1);	0.000000	0.64402	U	0.000002	T	0.34048	0.0884	L	0.60845	1.875	0.58432	D	0.999998	D;D;D	0.71674	0.998;0.977;0.998	P;P;P	0.58331	0.781;0.556;0.837	T	0.01225	-1.1413	9	.	.	.	.	16.6727	0.85271	0.0:0.0:1.0:0.0	.	14;160;497	B4E0H1;Q5JUW6;Q92796	.;.;DLG3_HUMAN	Q	515;497;160;14	ENSP00000194900:R515Q;ENSP00000363480:R497Q;ENSP00000363475:R160Q;ENSP00000441393:R14Q	.	R	+	2	0	DLG3	69615809	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.883000	0.92426	2.509000	0.84616	0.600000	0.82982	CGA		0.498	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		61	96	0	0	0	1	0	61	96					A	69699084	G	A	69699084	3	1	4	1	0	0	0	0	1	0	0	0	4558	1058	37	1	1666	1	DLG3	23	69699084	Missense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	37393342	69699084	85571476	82	270										
IRS4	8471	broad.mit.edu	37	chrX	107976125	107976125	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	gagtcaaatccagcagctgcGgctgctgcgccgatgcccgg	14	14	1	0			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:107976125G>A	ENST00000372129.2	-	1	3526	c.3450C>T	c.(3448-3450)gcC>gcT	p.A1150A	RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1150	Ala-rich.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CAGCAGCTGCGGCTGCTGCGC	0.657																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(3448-3450)gcC>gcT		insulin receptor substrate 4							28	35	32					X																	107976125		2084	4040	6124	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107976125G>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3450C>T	X.37:g.107976125G>A			Somatic					p.A1150A	NM_003604.2	NP_003595.1	WXS	Illumina GAIIx	Phase_I	O14654	IRS4_HUMAN			1	3526	-			1150			Ala-rich.			Silent	SNP	ENST00000372129.2	37	c.3450C>T	CCDS14544.1																																																																																				0.657	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		25	164	0	0	0	1	0	25	164					A	107976125	G	A	107976125	2	1	4	1	0	0	0	0	0	0	0	1	7851	1103	39	1		1	IRS4	23	107976125	Silent	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	38277041	107976125	47294435	83	271										
ODZ1	10178	broad.mit.edu	37	chrX	123538968	123538968	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	aggtttgcattgtgctctccGggcaatgagatgttgcattt	12	7	1	1			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:123538968G>A	ENST00000371130.3	-	26	5346	c.5283C>T	c.(5281-5283)ccC>ccT	p.P1761P	TENM1_ENST00000422452.2_Silent_p.P1768P|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1761					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)										TGTGCTCTCCGGGCAATGAGA	0.552																																						ENST00000422452.2																			0											c.(5302-5304)ccC>ccT		teneurin transmembrane protein 1							143	119	127					X																	123538968		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123538968G>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.5283C>T	X.37:g.123538968G>A			Somatic				STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.P1761P	p.P1768P	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina GAIIx	Phase_I					27	5367	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.5304C>T	CCDS14609.1																																																																																				0.552	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		42	75	0	0	0	1	0	42	75					A	123538968	G	A	123538968	2	1	4	1	0	0	0	0	0	0	0	1	10843	1103	39	1		1	ODZ1	23	123538968	Silent	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	15562843	123538968	31731592	84	272										
CT45A5	441521	broad.mit.edu	37	chrX	134948067	134948067	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	ggtgcattgctaccaggtttCtgcatcatcccatctttgct	8	12	3	0			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:134948067C>A	ENST00000463085.2	-	3	347	c.258G>T	c.(256-258)caG>caT	p.Q86H	CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Missense_Mutation_p.Q86H|CT45A5_ENST00000370724.3_Missense_Mutation_p.Q86H			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	86										endometrium(1)|large_intestine(2)|lung(6)	9						TACCAGGTTTCTGCATCATCC	0.468																																						ENST00000370724.3																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(256-258)caG>caT		cancer/testis antigen family 45, member A5							183	169	174					X																	134948067		2189	4265	6454	SO:0001583	missense	441521							g.chrX:134948067C>A	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.258G>T	X.37:g.134948067C>A	ENSP00000424778:p.Gln86His		Somatic				CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Missense_Mutation_p.Q86H	p.Q86H	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	WXS	Illumina GAIIx	Phase_I	Q6NSH3	CT455_HUMAN			3	502	-			86					A8K842|B7ZMC5	Missense_Mutation	SNP	ENST00000463085.2	37	c.258G>T	CCDS35406.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.525647	0.00147	.	.	ENSG00000242284	ENST00000370724;ENST00000491480	T;T	0.41065	1.01;1.01	2.18	0.0219	0.14131	.	0.911356	0.09446	N	0.801101	T	0.21186	0.0510	N	0.16790	0.44	0.09310	N	1	P	0.41848	0.763	B	0.40285	0.325	T	0.09862	-1.0655	10	0.09084	T	0.74	-4.1505	3.9381	0.09314	0.0:0.2701:0.4657:0.2642	.	86	Q6NSH3	CT455_HUMAN	H	86	ENSP00000359759:Q86H;ENSP00000425997:Q86H	ENSP00000359759:Q86H	Q	-	3	2	CT45A5	134775733	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.257000	0.08745	-0.263000	0.09378	-0.781000	0.03364	CAG		0.468	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472589.1	NM_001007551		171	198	1	0	4.61621e-74	1	5.43366e-74	171	198					A	134948067	C	A	134948067	3	1	4	1	0	0	0	0	1	0	0	0	3990	912	32	2	323	2	CT45A5	23	134948067	Missense_Mutation	SNP	C	TCGA-N5-A4RF-01A-11D-A28R-08	11409099	134948067	20322493	85	273										
MCF2	4168	broad.mit.edu	37	chrX	138724667	138724667	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tcttgcctctccggggatttGcttctgccatttcgcctgta	9	13	3	0			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:138724667G>C	ENST00000370576.4	-	1	220	c.11C>G	c.(10-12)gCa>gGa	p.A4G	MCF2_ENST00000520602.1_Intron|MCF2_ENST00000414978.1_Intron|MCF2_ENST00000519895.1_Intron|MCF2_ENST00000370573.4_Missense_Mutation_p.A4G|MCF2_ENST00000370578.4_Intron|MCF2_ENST00000536274.1_Missense_Mutation_p.A4G|MCF2_ENST00000338585.6_Missense_Mutation_p.A4G	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	4	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCGGGGATTTGCTTCTGCCAT	0.473																																						ENST00000370576.4																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(10-12)gCa>gGa		MCF.2 cell line derived transforming sequence							277	208	231					X																	138724667		2203	4300	6503	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138724667G>C		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.11C>G	X.37:g.138724667G>C	ENSP00000359608:p.Ala4Gly		Somatic				MCF2_ENST00000370578.4_Intron|MCF2_ENST00000338585.6_Missense_Mutation_p.A4G|MCF2_ENST00000414978.1_Intron|MCF2_ENST00000370573.4_Missense_Mutation_p.A4G|MCF2_ENST00000536274.1_Missense_Mutation_p.A4G|MCF2_ENST00000519895.1_Intron|MCF2_ENST00000520602.1_Intron	p.A4G	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	WXS	Illumina GAIIx	Phase_I	P10911	MCF2_HUMAN			1	220	-	Acute lymphoblastic leukemia(192;0.000127)		4			CRAL-TRIO.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.11C>G	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817039	0.50633	.	.	ENSG00000101977	ENST00000370576;ENST00000536274;ENST00000370573;ENST00000338585	T;T;T;T	0.49139	1.1;0.79;1.11;1.15	5.36	5.36	0.76844	.	.	.	.	.	T	0.51176	0.1659	L	0.36672	1.1	0.80722	D	1	B;B;P;D;B	0.54207	0.193;0.122;0.728;0.965;0.122	B;B;B;P;B	0.55615	0.08;0.037;0.223;0.78;0.037	T	0.54397	-0.8300	9	0.87932	D	0	.	11.3243	0.49440	0.0:0.1791:0.8209:0.0	.	4;4;4;4;4	F5H091;B2R9S6;P10911-2;P10911-4;P10911	.;.;.;.;MCF2_HUMAN	G	4	ENSP00000359608:A4G;ENSP00000438155:A4G;ENSP00000359605:A4G;ENSP00000342204:A4G	ENSP00000342204:A4G	A	-	2	0	MCF2	138552333	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.948000	0.49066	2.241000	0.73720	0.600000	0.82982	GCA		0.473	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		93	117	0	0	0	1	0	93	117					C	138724667	G	C	138724667	3	2	4	1	0	0	0	0	1	0	0	0	9387	1319	46	5	2946	5	MCF2	23	138724667	Missense_Mutation	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	3776600	138724667	16545893	86	274										
FLNA	2316	broad.mit.edu	37	chrX	153581770	153581770	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	tccgtctctgagatgttgatGgggatgtcggcagcagagcc	15	9	1	3			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:153581770G>T	ENST00000369850.3	-	37	6152	c.5916C>A	c.(5914-5916)ccC>ccA	p.P1972P	FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000422373.1_Silent_p.P1964P|FLNA_ENST00000369856.3_Silent_p.P105P|FLNA_ENST00000360319.4_Silent_p.P1964P|FLNA_ENST00000344736.4_Silent_p.P1932P	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1972					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGATGTTGATGGGGATGTCGG	0.637																																						ENST00000422373.1																			0				breast(6)	6						c.(5890-5892)ccC>ccA		filamin A, alpha							57	62	60					X																	153581770		2166	4240	6406	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153581770G>T	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.5916C>A	X.37:g.153581770G>T			Somatic				FLNA_ENST00000360319.4_Silent_p.P1964P|FLNA_ENST00000369856.3_Silent_p.P105P|FLNA_ENST00000369850.3_Silent_p.P1972P|FLNA_ENST00000344736.4_Silent_p.P1932P	p.P1964P	NM_001456.3	NP_001447.2	WXS	Illumina GAIIx	Phase_I	P21333	FLNA_HUMAN			36	6140	-	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)		1972					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.5892C>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	7.319	0.616571	0.14129	.	.	ENSG00000196924	ENST00000438732	D	0.82344	-1.6	5.69	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.86802	0.6020	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.86809	0.1997	7	0.66056	D	0.02	.	10.2697	0.43477	0.0782:0.1423:0.7796:0.0	.	.	.	.	Q	197	ENSP00000398215:P197Q	ENSP00000405458:P34Q	P	-	2	0	FLNA	153234964	0.112000	0.22096	1.000000	0.80357	0.929000	0.56500	-0.623000	0.05546	1.165000	0.42670	0.436000	0.28706	CCA		0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			40	85	1	0	1.04594e-18	1	1.18191e-18	40	85					T	153581770	G	T	153581770	2	4	4	1	0	0	0	0	0	0	0	1	5941	1335	47	5		5	FLNA	23	153581770	Silent	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	14857103	153581770	1688790	87	275										
RAB39B	116442	broad.mit.edu	37	chrX	154490295	154490295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0340909090909091	3	1	0.478682873730044	2.41620879120879	0.183841973244147	1	1	0	gtttcaatgtacttcatgccGtatgcagcagccagtttctc	8	11	3	0	rs376181426		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:154490295G>A	ENST00000369454.3	-	2	735	c.435C>T	c.(433-435)taC>taT	p.Y145Y		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	145					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTTCATGCCGTATGCAGCAG	0.498																																						ENST00000369454.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19						c.(433-435)taC>taT		RAB39B, member RAS oncogene family		G		1,3834		0,1,1631,571	113	94	100		435	0.3	1	X		100	0,6728		0,0,2428,1872	no	coding-synonymous	RAB39B	NM_171998.2		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		145/214	154490295	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154490295G>A	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"RAB, member RAS oncogene"	16499	protein-coding gene	gene with protein product		300774	"mental retardation, X-linked 72"	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.435C>T	X.37:g.154490295G>A			Somatic					p.Y145Y	NM_171998.2	NP_741995.1	WXS	Illumina GAIIx	Phase_I	Q96DA2	RB39B_HUMAN			2	735	-	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)		145					Q5JT79|Q8NEX3	Silent	SNP	ENST00000369454.3	37	c.435C>T	CCDS14766.1																																																																																				0.498	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		52	64	0	0	0	1	0	52	64					A	154490295	G	A	154490295	2	1	4	1	0	0	0	0	0	0	0	1	12945	1140	40	1		1	RAB39B	23	154490295	Silent	SNP	G	TCGA-N5-A4RF-01A-11D-A28R-08	908525	154490295	780265	88	276										
MMEL1	79258	broad.mit.edu	37	chr1	2540796	2540796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	actctggttcatgcaggagcGgtacagcgtcctggccttct	12	12	3	0	rs376308719		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:2540796G>A	ENST00000378412.3	-	6	678	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	MMEL1_ENST00000288709.6_Missense_Mutation_p.R164C|MMEL1_ENST00000502556.1_Intron			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	173						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ATGCAGGAGCGGTACAGCGTC	0.687																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(490-492)Cgc>Tgc		membrane metallo-endopeptidase-like 1							35	26	29					1																	2540796		2203	4299	6502	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2540796G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.517C>T	1.37:g.2540796G>A	ENSP00000367668:p.Arg173Cys		Somatic				MMEL1_ENST00000378412.3_Missense_Mutation_p.R173C|MMEL1_ENST00000502556.1_Intron	p.R164C	NM_033467.3	NP_258428.2	WXS	Illumina GAIIx	Phase_I	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	6	730	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	173					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.490C>T	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	g	21.8	4.197527	0.79015	.	.	ENSG00000142606	ENST00000288709;ENST00000378412	T;T	0.75821	-0.97;-0.97	5.56	4.58	0.56647	Peptidase M13 (1);	0.277558	0.44688	D	0.000433	D	0.83413	0.5249	M	0.75615	2.305	0.41599	D	0.988846	D	0.89917	1.0	D	0.71414	0.973	D	0.84738	0.0749	10	0.72032	D	0.01	-25.7391	10.3483	0.43920	0.0:0.0:0.7065:0.2935	.	173	Q495T6	MMEL1_HUMAN	C	164;173	ENSP00000288709:R164C;ENSP00000367668:R173C	ENSP00000288709:R164C	R	-	1	0	MMEL1	2530656	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.506000	0.45433	2.607000	0.88179	0.549000	0.68633	CGC		0.687	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		9	12	0	0	0	1	0	9	12					A	2540796	G	A	2540796	3	1	5	1	0	0	0	0	1	0	0	0	9655	1116	39	1	1898	1	MMEL1	1	2540796	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08		2540796	246709825	1	277										
ABCA4	24	broad.mit.edu	37	chr1	94528265	94528265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	caaacccgccccagatgtacCggaaatcttccacgggatca	8	15	2	1	rs61749410		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:94528265C>T	ENST00000370225.3	-	13	1891	c.1805G>A	c.(1804-1806)cGg>cAg	p.R602Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.R602Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	602			R -> Q (in STGD1). {ECO:0000269|PubMed:11527935}.|R -> W (in STGD1). {ECO:0000269|PubMed:18977788}.		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)		CCAGATGTACCGGAAATCTTC	0.557																																						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	GRCh37	CM014292	ABCA4	M	rs61749410	c.(1804-1806)cGg>cAg		ATP-binding cassette, sub-family A (ABC1), member 4		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	63	62	62	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1805	4	1	1	dbSNP_129	62	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCA4	NM_000350.2	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	602/2274	94528265	2,13004	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.chr1:94528265C>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.1805G>A	1.37:g.94528265C>T	ENSP00000359245:p.Arg602Gln		Somatic				ABCA4_ENST00000535735.1_Missense_Mutation_p.R602Q	p.R602Q	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)	13	1891	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	602		R -> Q (in STGD1).|R -> W (in STGD1).			O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.1805G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936785	0.92458	2.27E-4	1.16E-4	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.97575	-4.44;-4.44	4.95	4.04	0.47022	.	0.058940	0.64402	D	0.000009	D	0.97529	0.9191	M	0.73430	2.235	0.54753	D	0.999987	D;P	0.89917	1.0;0.896	D;P	0.97110	1.0;0.513	D	0.96947	0.9692	10	0.37606	T	0.19	.	13.3478	0.60584	0.0:0.9242:0.0:0.0758	rs61749410	602;602	F5H6E5;P78363	.;ABCA4_HUMAN	Q	602	ENSP00000359245:R602Q;ENSP00000437682:R602Q	ENSP00000359245:R602Q	R	-	2	0	ABCA4	94300853	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	4.756000	0.62205	1.319000	0.45190	0.561000	0.74099	CGG		0.557	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		23	24	0	0	0	1	0	23	24					T	94528265	C	T	94528265	3	4	5	1	0	0	0	0	1	0	0	0	34	652	23	1	5168	1	ABCA4	1	94528265	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	91987469	94528265	154722356	2	278										
HSPA6	3310	broad.mit.edu	37	chr1	161495873	161495873	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	gccccacgtggagtcccccaGatagaggtgacttttgacat	11	12	0	4			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:161495873G>C	ENST00000309758.4	+	1	1838	c.1425G>C	c.(1423-1425)caG>caC	p.Q475H	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	475					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GAGTCCCCCAGATAGAGGTGA	0.537																																						ENST00000309758.4																			0				endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(1423-1425)caG>caC		heat shock 70kDa protein 6 (HSP70B')							69	66	67					1																	161495873		2203	4300	6503	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161495873G>C		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"Heat shock proteins / HSP70"	5239	protein-coding gene	gene with protein product		140555	"heat shock 70kD protein 6 (HSP70B')"			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1425G>C	1.37:g.161495873G>C	ENSP00000310219:p.Gln475His		Somatic					p.Q475H	NM_002155.3	NP_002146.2	WXS	Illumina GAIIx	Phase_I	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	1838	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		475					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.1425G>C	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	16.99	3.273569	0.59649	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01172	5.23	3.5	2.54	0.30619	.	0.733114	0.11096	U	0.600228	T	0.03608	0.0103	H	0.97758	4.07	0.37243	D	0.906228	P	0.40660	0.726	P	0.48270	0.572	T	0.00647	-1.1628	10	0.87932	D	0	.	8.8164	0.34998	0.1199:0.0:0.8801:0.0	.	475	P17066	HSP76_HUMAN	H	475;451	ENSP00000310219:Q475H	ENSP00000310219:Q475H	Q	+	3	2	HSPA6	159762497	1.000000	0.71417	0.703000	0.30354	0.943000	0.58893	4.570000	0.60872	1.760000	0.52011	0.591000	0.81541	CAG		0.537	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		16	50	0	0	0	1	0	16	50					C	161495873	G	C	161495873	3	2	5	1	0	0	0	0	1	0	0	0	7424	933	33	2	1427	2	HSPA6	1	161495873	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	66967608	161495873	87754748	3	279										
DDR2	4921	broad.mit.edu	37	chr1	162746131	162746131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	gccgggcagtgctccctatcCgctggatgtcttgggagagt	15	11	1	1	rs121964863		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:162746131C>T	ENST00000367922.3	+	17	2692	c.2254C>T	c.(2254-2256)Cgc>Tgc	p.R752C	DDR2_ENST00000367921.3_Missense_Mutation_p.R752C|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	752	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in SEMD-SL; causes retention in an intracellular compartment and thereby abolishes signaling in response collagen binding). {ECO:0000269|PubMed:19110212}.		biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GCTCCCTATCCGCTGGATGTC	0.502																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	GRCh37	CM090153	DDR2	M	rs121964863	c.(2254-2256)Cgc>Tgc		discoidin domain receptor tyrosine kinase 2							102	97	98					1																	162746131		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162746131C>T	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2254C>T	1.37:g.162746131C>T	ENSP00000356899:p.Arg752Cys		Somatic				DDR2_ENST00000367921.3_Missense_Mutation_p.R752C	p.R752C	NM_001014796.1	NP_001014796.1	WXS	Illumina GAIIx	Phase_I	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		17	2692	+	all_hematologic(112;0.115)		752		R -> C (in SEMD-SL; causes retention in an intracellular compartment and thereby abolishes signaling in response collagen binding).	Protein kinase.		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.2254C>T	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981666	0.93044	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.83755	-1.76;-1.76	5.18	5.18	0.71444	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	0.92328	0.7566	M	0.91038	3.17	0.42989	D	0.994482	D	0.89917	1.0	D	0.85130	0.997	D	0.93704	0.7018	9	0.87932	D	0	.	17.614	0.88063	0.0:1.0:0.0:0.0	.	752	Q16832	DDR2_HUMAN	C	752	ENSP00000356899:R752C;ENSP00000356898:R752C	ENSP00000356898:R752C	R	+	1	0	DDR2	161012755	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.659000	0.83766	2.541000	0.85698	0.637000	0.83480	CGC		0.502	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		7	111	0	0	0	1	0	7	111					T	162746131	C	T	162746131	3	4	5	1	0	0	0	0	1	0	0	0	4339	652	23	1	2308	1	DDR2	1	162746131	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	1250258	162746131	86504490	4	280										
POU2F1	5451	broad.mit.edu	37	chr1	167381351	167381351	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	gtgagaccagcacaacacagAccacctccactcctttgtcc	6	17	0	2			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:167381351A>C	ENST00000541643.3	+	15	1804	c.1642A>C	c.(1642-1644)Acc>Ccc	p.T548P	POU2F1_ENST00000367866.2_Missense_Mutation_p.T571P|POU2F1_ENST00000429375.2_Missense_Mutation_p.T508P|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Missense_Mutation_p.T560P|POU2F1_ENST00000420254.3_Missense_Mutation_p.T548P			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	548					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CACAACACAGACCACCTCCAC	0.602																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(1678-1680)Acc>Ccc		POU class 2 homeobox 1							122	84	97					1																	167381351		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167381351A>C	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1642A>C	1.37:g.167381351A>C	ENSP00000441285:p.Thr548Pro		Somatic				POU2F1_ENST00000367866.2_Missense_Mutation_p.T571P|POU2F1_ENST00000541643.3_Missense_Mutation_p.T548P|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.T508P|POU2F1_ENST00000420254.3_Missense_Mutation_p.T548P	p.T560P	NM_001198783.1	NP_001185712.1	WXS	Illumina GAIIx	Phase_I	P14859	PO2F1_HUMAN			14	1913	+			548					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.1678A>C		.	.	.	.	.	.	.	.	.	.	A	17.39	3.377212	0.61735	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;T;T;T;T;T	0.86865	-2.18;-2.15;0.95;0.95;0.95;0.95;0.95	5.5	5.5	0.81552	.	3.036520	0.00998	N	0.003627	D	0.86997	0.6068	N	0.19112	0.55	0.38662	D	0.952095	B;D;B;P;B	0.62365	0.057;0.991;0.095;0.527;0.057	B;D;B;B;B	0.65323	0.086;0.934;0.178;0.178;0.086	T	0.75651	-0.3244	9	0.72032	D	0.01	.	15.9047	0.79419	1.0:0.0:0.0:0.0	.	508;548;560;546;548	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	P	571;508;546;548;548;560;456	ENSP00000356840:T571P;ENSP00000401217:T508P;ENSP00000356839:T546P;ENSP00000414660:T548P;ENSP00000441285:T548P;ENSP00000356836:T560P;ENSP00000415993:T456P	ENSP00000356836:T560P	T	+	1	0	POU2F1	165647975	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.181000	0.71988	2.206000	0.71126	0.528000	0.53228	ACC		0.602	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		16	59	0	0	0	1	0	16	59					C	167381351	A	C	167381351	3	2	5	1	0	0	0	0	1	0	0	0	12280	275	10	4	1692	4	POU2F1	1	167381351	Missense_Mutation	SNP	A	TCGA-N5-A4RJ-01A-11D-A28R-08	4635220	167381351	81869270	5	281										
EXO1	9156	broad.mit.edu	37	chr1	242042601	242042601	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	tctcactgcagagttcaaatGcatcaaagctttctcagtgc	7	11	4	1			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:242042601G>C	ENST00000366548.3	+	13	2658	c.2065G>C	c.(2065-2067)Gca>Cca	p.A689P	EXO1_ENST00000518483.1_Missense_Mutation_p.A689P|EXO1_ENST00000348581.5_Missense_Mutation_p.A689P	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	689	Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GAGTTCAAATGCATCAAAGCT	0.413								Editing and processing nucleases																														ENST00000366548.3																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45						c.(2065-2067)Gca>Cca	Editing and processing nucleases	exonuclease 1							46	50	48					1																	242042601		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242042601G>C	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2065G>C	1.37:g.242042601G>C	ENSP00000355506:p.Ala689Pro		Somatic				EXO1_ENST00000348581.5_Missense_Mutation_p.A689P|EXO1_ENST00000518483.1_Missense_Mutation_p.A689P	p.A689P	NM_130398.3	NP_569082.2	WXS	Illumina GAIIx	Phase_I	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		13	2658	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	689			Interaction with MSH2.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.2065G>C	CCDS1620.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.65|12.65	2.002936|2.002936	0.35320|0.35320	.|.	.|.	ENSG00000174371|ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483|ENST00000521202	T;T;T|.	0.34667|.	1.35;1.35;1.35|.	5.42|5.42	-1.29|-1.29	0.09288|0.09288	.|.	0.901857|.	0.09614|.	N|.	0.778477|.	T|T	0.35740|0.35740	0.0942|0.0942	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	P;P;P|.	0.42337|.	0.668;0.776;0.668|.	B;P;B|.	0.44422|.	0.189;0.449;0.262|.	T|T	0.35500|0.35500	-0.9786|-0.9786	10|5	0.29301|.	T|.	0.29|.	-23.2989|-23.2989	6.1048|6.1048	0.20067|0.20067	0.3477:0.0:0.5346:0.1177|0.3477:0.0:0.5346:0.1177	.|.	688;689;689|.	A8K5H6;Q9UQ84-4;Q9UQ84|.	.;.;EXO1_HUMAN|.	P|S	689|87	ENSP00000355506:A689P;ENSP00000311873:A689P;ENSP00000430251:A689P|.	ENSP00000311873:A689P|.	A|C	+|+	1|2	0|0	EXO1|EXO1	240109224|240109224	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.236000|-0.236000	0.09003|0.09003	-0.107000|-0.107000	0.12088|0.12088	-0.808000|-0.808000	0.03180|0.03180	GCA|TGC		0.413	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		17	22	0	0	0	1	0	17	22					C	242042601	G	C	242042601	3	2	5	1	0	0	0	0	1	0	0	0	5302	1319	46	5	2103	5	EXO1	1	242042601	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	74661250	242042601	7208020	6	282										
TTC27	55622	broad.mit.edu	37	chr2	32983377	32983377	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	aggcagaagaaatccttagaCaagagctggagaaaaaagaa	11	5	0	6			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:32983377C>T	ENST00000317907.4	+	13	1702	c.1471C>T	c.(1471-1473)Caa>Taa	p.Q491*		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	491										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AATCCTTAGACAAGAGCTGGA	0.383																																						ENST00000317907.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1471-1473)Caa>Taa		tetratricopeptide repeat domain 27							68	70	69					2																	32983377		2203	4300	6503	SO:0001587	stop_gained	55622						protein binding	g.chr2:32983377C>T	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"Tetratricopeptide (TTC) repeat domain containing"	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.1471C>T	2.37:g.32983377C>T	ENSP00000313953:p.Gln491*		Somatic					p.Q491*	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	WXS	Illumina GAIIx	Phase_I	Q6P3X3	TTC27_HUMAN			13	1702	+			491					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Nonsense_Mutation	SNP	ENST00000317907.4	37	c.1471C>T	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563331	0.86335	.	.	ENSG00000018699	ENST00000317907	.	.	.	5.79	4.91	0.64330	.	0.065107	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-5.7529	16.31	0.82865	0.1334:0.8666:0.0:0.0	.	.	.	.	X	491	.	ENSP00000313953:Q491X	Q	+	1	0	TTC27	32836881	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.569000	0.45973	1.439000	0.47511	0.655000	0.94253	CAA		0.383	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		4	87	0	0	0	1	0	4	87					T	32983377	C	T	32983377	4	4	5	1	0	0	0	0	0	1	0	0	16710	479	17	3	1521	3	TTC27	2	32983377	Nonsense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08		32983377	210215996	7	283										
TBC1D8	11138	broad.mit.edu	37	chr2	101648744	101648744	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	gtttaccgatcactcggtggTtgaagtaatcgggcagcatc	12	9	1	1			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:101648744T>C	ENST00000376840.4	-	11	1876	c.1877A>G	c.(1876-1878)aAc>aGc	p.N626S	TBC1D8_ENST00000409318.1_Missense_Mutation_p.N641S			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	626	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CACTCGGTGGTTGAAGTAATC	0.532																																						ENST00000409318.1																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(1921-1923)aAc>aGc		TBC1 domain family, member 8 (with GRAM domain)							81	86	84					2																	101648744		2123	4253	6376	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101648744T>C	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1877A>G	2.37:g.101648744T>C	ENSP00000366036:p.Asn626Ser		Somatic				TBC1D8_ENST00000376840.4_Missense_Mutation_p.N626S	p.N641S	NM_001102426.1	NP_001095896.1	WXS	Illumina GAIIx	Phase_I	O95759	TBCD8_HUMAN			11	2052	-			626			Rab-GAP TBC.		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.1922A>G	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.106184	0.56291	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.10960	2.82;2.82	5.02	3.87	0.44632	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000002	T	0.08358	0.0208	N	0.16130	0.375	0.44780	D	0.99778	P	0.46457	0.878	P	0.48227	0.571	T	0.37079	-0.9721	10	0.12430	T	0.62	-38.7033	10.3903	0.44164	0.0:0.0771:0.0:0.9229	.	626	O95759	TBCD8_HUMAN	S	626;641	ENSP00000366036:N626S;ENSP00000386856:N641S	ENSP00000366036:N626S	N	-	2	0	TBC1D8	101015176	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.125000	0.71627	0.768000	0.33290	0.533000	0.62120	AAC		0.532	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		28	44	0	0	0	1	0	28	44					C	101648744	T	C	101648744	3	2	5	1	0	0	0	0	1	0	0	0	15640	1725	60	4	1585	4	TBC1D8	2	101648744	Missense_Mutation	SNP	T	TCGA-N5-A4RJ-01A-11D-A28R-08	68665367	101648744	141550629	8	284										
MERTK	10461	broad.mit.edu	37	chr2	112686937	112686937	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	tgccttcaaacacacagttgGacacataatactttctgaac	5	11	2	1			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:112686937G>T	ENST00000295408.4	+	2	559	c.302G>T	c.(301-303)gGa>gTa	p.G101V	RN7SL297P_ENST00000483161.2_RNA|MERTK_ENST00000421804.2_Missense_Mutation_p.G101V|MERTK_ENST00000409780.1_Intron			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	101	Ig-like C2-type 1.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G101V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CACACAGTTGGACACATAATA	0.448																																						ENST00000295408.4																			1	Substitution - Missense(1)	p.G101V(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(301-303)gGa>gTa		c-mer proto-oncogene tyrosine kinase							106	97	100					2																	112686937		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112686937G>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.302G>T	2.37:g.112686937G>T	ENSP00000295408:p.Gly101Val		Somatic				MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Missense_Mutation_p.G101V	p.G101V			WXS	Illumina GAIIx	Phase_I	Q12866	MERTK_HUMAN			2	559	+			101			Ig-like C2-type 1.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.302G>T	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524408	0.44969	.	.	ENSG00000153208	ENST00000295408;ENST00000421804	T;T	0.66638	-0.22;-0.22	4.13	4.13	0.48395	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.33477	U	0.004872	T	0.74268	0.3694	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.69480	-0.5134	10	0.08179	T	0.78	-17.8289	13.7598	0.62959	0.0:0.0:1.0:0.0	.	101	Q12866	MERTK_HUMAN	V	101	ENSP00000295408:G101V;ENSP00000389152:G101V	ENSP00000295408:G101V	G	+	2	0	MERTK	112403408	1.000000	0.71417	0.992000	0.48379	0.255000	0.26057	4.853000	0.62911	2.277000	0.76020	0.557000	0.71058	GGA		0.448	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			26	51	1	0	1.26454e-06	1	1.38356e-06	26	51					T	112686937	G	T	112686937	3	4	5	1	0	0	0	0	1	0	0	0	9488	1174	41	2	308	2	MERTK	2	112686937	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	11038193	112686937	130512436	9	285										
SAP130	79595	broad.mit.edu	37	chr2	128757879	128757879	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	ggttctccacttttggttttAcctgagccattgtatgaagc	9	9	1	2			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:128757879A>C	ENST00000259235.3	-	8	1225		c.e8+1		SAP130_ENST00000357702.5_Splice_Site|SAP130_ENST00000259234.6_Splice_Site	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa						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)		TTTTGGTTTTACCTGAGCCAT	0.483																																						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.e8+1		Sin3A-associated protein, 130kDa							261	230	240					2																	128757879		2203	4300	6503	SO:0001630	splice_region_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128757879A>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.1095+1T>G	2.37:g.128757879A>C			Somatic				SAP130_ENST00000259234.6_Splice_Site|SAP130_ENST00000259235.3_Splice_Site		NM_001145928.1	NP_001139400.1	WXS	Illumina GAIIx	Phase_I	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	8	1227	-	Colorectal(110;0.1)							B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Splice_Site	SNP	ENST00000259235.3	37		CCDS2153.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392073	0.83011	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9377	0.79729	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SAP130	128474349	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	6.625000	0.74248	2.159000	0.67721	0.528000	0.53228	.		0.483	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545	Intron	13	51	0	0	0	1	0	13	51					C	128757879	A	C	128757879	5	2	5	1	0	0	0	0	0	0	1	0	13846	405	14	4	2210	4	SAP130	2	128757879	Splice_Site	SNP	A	TCGA-N5-A4RJ-01A-11D-A28R-08	16070942	128757879	114441494	10	286										
RAPGEF4	11069	broad.mit.edu	37	chr2	173830397	173830397	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	gcaagtcctgttagaagatgGtgttctcaaccacggtaaga	11	8	1	3			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:173830397G>T	ENST00000397081.3	+	9	949	c.806G>T	c.(805-807)gGt>gTt	p.G269V	RAPGEF4_ENST00000264111.6_Missense_Mutation_p.G268V|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.G269V|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.G49V|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.G116V|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.G98V|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.G125V|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.G116V	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	269	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)			TTAGAAGATGGTGTTCTCAAC	0.502																																						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.(802-804)gGt>gTt		Rap guanine nucleotide exchange factor (GEF) 4							141	143	143					2																	173830397		2078	4227	6305	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.chr2:173830397G>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.806G>T	2.37:g.173830397G>T	ENSP00000380271:p.Gly269Val		Somatic				RAPGEF4_ENST00000539331.1_Missense_Mutation_p.G116V|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.G269V|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.G269V|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.G125V|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.G116V|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.G98V|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.G49V|RAPGEF4_ENST00000473043.1_3'UTR	p.G268V			WXS	Illumina GAIIx	Phase_I	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		9	990	+			269			DEP.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.803G>T	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671752	0.88348	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.55	5.55	0.83447	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.204155	0.51477	D	0.000092	T	0.62122	0.2402	H	0.95224	3.64	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.991;1.0;1.0;0.999	D;P;D;D;D	0.87578	0.982;0.721;0.996;0.998;0.98	T	0.74447	-0.3662	10	0.87932	D	0	.	19.4992	0.95086	0.0:0.0:1.0:0.0	.	96;98;125;269;269	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	V	268;269;269;125;98;116;116;96;49	ENSP00000264111:G268V;ENSP00000380271:G269V;ENSP00000387104:G269V;ENSP00000380276:G125V;ENSP00000440135:G98V;ENSP00000440250:G116V;ENSP00000437384:G116V;ENSP00000438011:G49V	ENSP00000264111:G268V	G	+	2	0	RAPGEF4	173538643	1.000000	0.71417	0.893000	0.35052	0.992000	0.81027	8.031000	0.88826	2.598000	0.87819	0.655000	0.94253	GGT		0.502	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		4	85	1	0	0.00909568	1	0.00929559	4	85					T	173830397	G	T	173830397	3	4	5	1	0	0	0	0	1	0	0	0	13061	1261	44	5	856	5	RAPGEF4	2	173830397	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	45072518	173830397	69368976	11	287										
GRM7	2917	broad.mit.edu	37	chr3	7188289	7188289	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	gctggaattatgtgtctaccCtcgcatcggaaggaagttat	11	8	1	0			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:7188289C>A	ENST00000357716.4	+	2	944	c.670C>A	c.(670-672)Ctc>Atc	p.L224I	GRM7_ENST00000486284.1_Missense_Mutation_p.L224I|GRM7_ENST00000403881.1_Missense_Mutation_p.L224I|GRM7_ENST00000389336.4_Missense_Mutation_p.L224I|GRM7_ENST00000402647.2_Missense_Mutation_p.L224I	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	224					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TGTGTCTACCCTCGCATCGGA	0.522																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(670-672)Ctc>Atc		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						104	99	101					3																	7188289		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7188289C>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.670C>A	3.37:g.7188289C>A	ENSP00000350348:p.Leu224Ile		Somatic				GRM7_ENST00000389336.4_Missense_Mutation_p.L224I|GRM7_ENST00000402647.2_Missense_Mutation_p.L224I|GRM7_ENST00000357716.4_Missense_Mutation_p.L224I|GRM7_ENST00000403881.1_Missense_Mutation_p.L224I	p.L224I	NM_181874.2	NP_870989.1	WXS	Illumina GAIIx	Phase_I	Q14831	GRM7_HUMAN			2	944	+			224					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.670C>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	6.159	0.397495	0.11638	.	.	ENSG00000196277	ENST00000448328;ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	5.87	4.95	0.65309	Extracellular ligand-binding receptor (1);	0.247697	0.35235	N	0.003354	T	0.71333	0.3327	N	0.25957	0.775	0.24601	N	0.99378	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.20577	0.004;0.002;0.03	T	0.51787	-0.8661	10	0.12430	T	0.62	.	5.3041	0.15793	0.1768:0.676:0.0:0.1471	.	224;224;224	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	I	16;224;224;224;224;224;224;224	ENSP00000393799:L16I;ENSP00000350348:L224I;ENSP00000417536:L224I;ENSP00000373987:L224I;ENSP00000385664:L224I;ENSP00000384585:L224I	ENSP00000350348:L224I	L	+	1	0	GRM7	7163289	0.196000	0.23350	0.394000	0.26270	0.314000	0.28054	0.649000	0.24843	2.941000	0.99782	0.655000	0.94253	CTC		0.522	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		8	48	1	0	0.00621372	1	0.00649298	8	48					A	7188289	C	A	7188289	3	1	5	1	0	0	0	0	1	0	0	0	6811	681	24	5	676	5	GRM7	3	7188289	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08		7188289	190834141	12	288										
COL7A1	1294	broad.mit.edu	37	chr3	48603954	48603954	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	cacactcaccgtcagtgcagCttctcccttctcgcctcgag	7	18	4	0			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:48603954C>G	ENST00000328333.8	-	112	8454	c.8347G>C	c.(8347-8349)Gct>Cct	p.A2783P	COL7A1_ENST00000470076.1_5'Flank|COL7A1_ENST00000454817.1_Missense_Mutation_p.A2751P|UCN2_ENST00000273610.3_5'Flank	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2783	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)		GTCAGTGCAGCTTCTCCCTTC	0.672																																						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.(8347-8349)Gct>Cct		collagen, type VII, alpha 1							87	91	90					3																	48603954		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48603954C>G	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.8347G>C	3.37:g.48603954C>G	ENSP00000332371:p.Ala2783Pro		Somatic				COL7A1_ENST00000454817.1_Missense_Mutation_p.A2751P	p.A2783P	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)	112	8454	-			2783			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.8347G>C	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	7.576	0.667675	0.14710	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94613	-3.47;-3.47	4.6	3.68	0.42216	.	0.166659	0.28284	N	0.015919	T	0.81602	0.4857	N	0.01086	-1.025	0.32029	N	0.599746	B	0.18013	0.025	B	0.23574	0.047	T	0.77867	-0.2428	10	0.16420	T	0.52	.	11.9853	0.53145	0.0:0.7185:0.2815:0.0	.	2783	Q02388	CO7A1_HUMAN	P	2783;2751	ENSP00000332371:A2783P;ENSP00000412569:A2751P	ENSP00000332371:A2783P	A	-	1	0	COL7A1	48578958	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	1.486000	0.35530	2.404000	0.81709	0.467000	0.42956	GCT		0.672	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		7	106	0	0	0	1	0	7	106					G	48603954	C	G	48603954	3	3	5	1	0	0	0	0	1	0	0	0	3706	797	28	5	515	5	COL7A1	3	48603954	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	41415665	48603954	149418476	13	289										
IP6K1	9807	broad.mit.edu	37	chr3	49764567	49764567	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	aacagggcctactggttctcGtcccgcatctgttccatgat	9	13	2	1			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:49764567G>C	ENST00000321599.4	-	6	1615	c.1314C>G	c.(1312-1314)gaC>gaG	p.D438E	IP6K1_ENST00000395238.1_Missense_Mutation_p.D273E|IP6K1_ENST00000468463.1_3'UTR|IP6K1_ENST00000460540.1_Missense_Mutation_p.D273E	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	438					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.D438D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						ACTGGTTCTCGTCCCGCATCT	0.587																																						ENST00000321599.4																			1	Substitution - coding silent(1)	p.D438D(1)	breast(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						c.(1312-1314)gaC>gaG		inositol hexakisphosphate kinase 1							66	66	66					3																	49764567		2203	4300	6503	SO:0001583	missense	9807				phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:49764567G>C	D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095			18360	protein-coding gene	gene with protein product		606991	"inositol hexaphosphate kinase 1"	IHPK1			Standard	NM_001242829		Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000321599.4:c.1314C>G	3.37:g.49764567G>C	ENSP00000323780:p.Asp438Glu		Somatic				IP6K1_ENST00000395238.1_Missense_Mutation_p.D273E|IP6K1_ENST00000468463.1_3'UTR|IP6K1_ENST00000460540.1_Missense_Mutation_p.D273E	p.D438E	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	WXS	Illumina GAIIx	Phase_I	Q92551	IP6K1_HUMAN			6	1615	-			438					A8K157|A8MUX4|Q7L3I7|Q96E38	Missense_Mutation	SNP	ENST00000321599.4	37	c.1314C>G	CCDS33760.1	.	.	.	.	.	.	.	.	.	.	G	2.300	-0.360341	0.05103	.	.	ENSG00000176095	ENST00000321599;ENST00000395238;ENST00000460540	T;T;T	0.12672	2.66;2.66;2.66	5.5	1.03	0.20045	.	0.190316	0.48286	D	0.000181	T	0.03011	0.0089	N	0.02802	-0.49	0.35721	D	0.817151	B	0.02656	0.0	B	0.06405	0.002	T	0.35895	-0.9770	10	0.02654	T	1	-29.2836	0.398	0.00421	0.3355:0.2192:0.2517:0.1936	.	438	Q92551	IP6K1_HUMAN	E	438;273;273	ENSP00000323780:D438E;ENSP00000378659:D273E;ENSP00000420762:D273E	ENSP00000323780:D438E	D	-	3	2	IP6K1	49739571	0.013000	0.17824	1.000000	0.80357	0.996000	0.88848	-0.949000	0.03893	0.676000	0.31285	0.467000	0.42956	GAC		0.587	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350380.1	NM_153273		31	28	0	0	0	1	0	31	28					C	49764567	G	C	49764567	3	2	5	1	0	0	0	0	1	0	0	0	7797	1136	40	5	15	5	IP6K1	3	49764567	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	1160613	49764567	148257863	14	290										
SHQ1	55164	broad.mit.edu	37	chr3	72799764	72799764	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	tgaatctgagcctgagtcttCgtttccagatgacacgctgc	10	11	2	5	rs374852297		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:72799764C>G	ENST00000325599.8	-	11	1544	c.1405G>C	c.(1405-1407)Gaa>Caa	p.E469Q	SHQ1_ENST00000468371.1_5'UTR|SHQ1_ENST00000463369.1_Missense_Mutation_p.E441Q	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	469	Ser-rich.				negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CCTGAGTCTTCGTTTCCAGAT	0.473																																						ENST00000325599.8																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(1405-1407)Gaa>Caa		SHQ1, H/ACA ribonucleoprotein assembly factor							95	83	87					3																	72799764		2203	4300	6503	SO:0001583	missense	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72799764C>G	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"SHQ1 homolog (S. cerevisiae)"			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.1405G>C	3.37:g.72799764C>G	ENSP00000315182:p.Glu469Gln		Somatic				SHQ1_ENST00000463369.1_Missense_Mutation_p.E441Q|SHQ1_ENST00000468371.1_5'UTR	p.E469Q	NM_018130.2	NP_060600.2	WXS	Illumina GAIIx	Phase_I	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	11	1544	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	469			Ser-rich.		B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	37	c.1405G>C	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599403	0.28534	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	T;T	0.36157	1.3;1.27	5.88	1.79	0.24919	.	2.103700	0.02041	N	0.049272	T	0.22704	0.0548	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.11329	0.006	T	0.23976	-1.0173	10	0.56958	D	0.05	-11.806	6.4341	0.21813	0.1102:0.4764:0.3423:0.0712	.	469	Q6PI26	SHQ1_HUMAN	Q	469;441	ENSP00000315182:E469Q;ENSP00000417452:E441Q	ENSP00000315182:E469Q	E	-	1	0	SHQ1	72882454	0.976000	0.34144	0.000000	0.03702	0.008000	0.06430	2.483000	0.45233	0.054000	0.16065	-0.169000	0.13324	GAA		0.473	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		16	19	0	0	0	1	0	16	19					G	72799764	C	G	72799764	3	3	5	1	0	0	0	0	1	0	0	0	14307	893	31	2	332	2	SHQ1	3	72799764	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	23035197	72799764	125222666	15	291										
CD80	941	broad.mit.edu	37	chr3	119276562	119276562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	atggtgatgttccctgcctcCgtgtgtggcccatggcttca	12	12	1	1	rs267599556		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:119276562C>T	ENST00000264246.3	-	2	376	c.14G>A	c.(13-15)cGg>cAg	p.R5Q	CD80_ENST00000383668.3_Missense_Mutation_p.R5Q|CD80_ENST00000478182.1_Missense_Mutation_p.R5Q|CD80_ENST00000383669.3_Missense_Mutation_p.R5Q	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	5					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)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	TCCCTGCCTCCGTGTGTGGCC	0.498													C|||	1	0.000199681	0	0	5008	,	,		20614	0		0	False		,,,				2504	0.001				Melanoma(132;135 1764 1806 5833 14593)	ENST00000264246.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(13-15)cGg>cAg		CD80 molecule	Abatacept(DB01281)						159	131	140					3																	119276562		2203	4300	6503	SO:0001583	missense	941				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding	g.chr3:119276562C>T		CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1700	protein-coding gene	gene with protein product	"B-lymphocyte activation antigen B7"	112203	"CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)", "CD80 molecule "	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.14G>A	3.37:g.119276562C>T	ENSP00000264246:p.Arg5Gln		Somatic				CD80_ENST00000383668.3_Missense_Mutation_p.R5Q|CD80_ENST00000478182.1_Missense_Mutation_p.R5Q|CD80_ENST00000383669.3_Missense_Mutation_p.R5Q	p.R5Q	NM_005191.3	NP_005182.1	WXS	Illumina GAIIx	Phase_I	P33681	CD80_HUMAN			2	376	-			5					Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	c.14G>A	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	C	8.306	0.820987	0.16678	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669;ENST00000383668	T;T;T;T	0.12361	4.98;4.98;4.87;2.69	3.76	-3.22	0.05125	.	3.725600	0.01299	N	0.010242	T	0.06962	0.0177	N	0.22421	0.69	0.09310	N	1	P;P;P;P	0.50943	0.94;0.718;0.837;0.837	B;B;B;B	0.34590	0.186;0.077;0.134;0.134	T	0.33420	-0.9869	10	0.25106	T	0.35	10.1551	4.868	0.13618	0.3106:0.3538:0.3356:0.0	.	5;5;5;5	Q5DTA9;Q5DTB0;A0N0P2;P33681	.;.;.;CD80_HUMAN	Q	5	ENSP00000264246:R5Q;ENSP00000418364:R5Q;ENSP00000373165:R5Q;ENSP00000373164:R5Q	ENSP00000264246:R5Q	R	-	2	0	CD80	120759252	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.298000	0.08265	-0.609000	0.05724	-1.058000	0.02302	CGG		0.498	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191		9	17	0	0	0	1	0	9	17					T	119276562	C	T	119276562	3	4	5	1	0	0	0	0	1	0	0	0	3040	652	23	1	872	1	CD80	3	119276562	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	46476798	119276562	78745868	16	292										
PIK3CA	5290	broad.mit.edu	37	chr3	178952084	178952084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	tgaaacaaatgaatgatgcaCatcatggtggctggacaaca	10	7	1	3	rs121913281		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:178952084C>T	ENST00000263967.3	+	21	3296	c.3139C>T	c.(3139-3141)Cat>Tat	p.H1047Y	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047Y(37)		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)	GAATGATGCACATCATGGTGG	0.373	H1047Y(MFE280_ENDOMETRIUM)|H1047Y(TOV21G_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	H1047Y(MFE280_ENDOMETRIUM)|H1047Y(TOV21G_OVARY)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		37	Substitution - Missense(37)	p.H1047Y(37)	large_intestine(15)|endometrium(13)|breast(5)|ovary(3)|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.(3139-3141)Cat>Tat		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							100	89	92					3																	178952084		1912	4132	6044	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.chr3:178952084C>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.3139C>T	3.37:g.178952084C>T	ENSP00000263967:p.His1047Tyr	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.H1047Y	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	3296	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3139C>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173289	0.38413	.	.	ENSG00000121879	ENST00000263967	T	0.80480	-1.38	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.54208	0.1844	N	0.00265	-1.74	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.56908	-0.7901	10	0.36615	T	0.2	-21.2893	20.6721	0.99693	0.0:1.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	Y	1047	ENSP00000263967:H1047Y	ENSP00000263967:H1047Y	H	+	1	0	PIK3CA	180434778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.894000	0.99253	0.591000	0.81541	CAT		0.373	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			36	40	0	0	0	1	0	36	40					T	178952084	C	T	178952084	3	4	5	1	0	0	0	0	1	0	0	0	11922	478	17	3	3217	3	PIK3CA	3	178952084	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	59675522	178952084	19070346	17	293										
THAP9	79725	broad.mit.edu	37	chr4	83826061	83826061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	gaaagctgaaaaaaggagctGtgccttctgtttctctatac	9	8	2	1			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr4:83826061G>A	ENST00000302236.5	+	2	304	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	85					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)				AAAAGGAGCTGTGCCTTCTGT	0.363																																						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.(253-255)Gtg>Atg		THAP domain containing 9							71	73	72					4																	83826061		2203	4300	6503	SO:0001583	missense	79725						DNA binding|metal ion binding	g.chr4:83826061G>A	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.253G>A	4.37:g.83826061G>A	ENSP00000305533:p.Val85Met		Somatic					p.V85M	NM_024672.4	NP_078948.3	WXS	Illumina GAIIx	Phase_I	Q9H5L6	THAP9_HUMAN			2	304	+		Hepatocellular(203;0.114)	85					B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	c.253G>A	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509595	0.64522	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.97404	-4.37	3.71	3.71	0.42584	Zinc finger, C2CH-type (4);	0.773311	0.11094	N	0.600439	D	0.98435	0.9479	M	0.84683	2.71	0.28683	N	0.904988	D	0.76494	0.999	D	0.87578	0.998	D	0.94178	0.7429	9	.	.	.	-10.6819	13.3075	0.60362	0.0:0.0:1.0:0.0	.	85	Q9H5L6	THAP9_HUMAN	M	85	ENSP00000305533:V85M	.	V	+	1	0	THAP9	84045085	1.000000	0.71417	0.999000	0.59377	0.885000	0.51271	4.210000	0.58500	2.386000	0.81285	0.650000	0.86243	GTG		0.363	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		8	17	0	0	0	1	0	8	17					A	83826061	G	A	83826061	3	1	5	1	0	0	0	0	1	0	0	0	15866	1377	48	3	259	3	THAP9	4	83826061	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08		83826061	107328215	18	294										
FBXW7	55294	broad.mit.edu	37	chr4	153251907	153251907	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	aggagatttgagttctcctcGcctccagttagtatcaattc	8	10	2	2			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr4:153251907G>A	ENST00000281708.4	-	7	2328	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R249*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R191*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R367*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R367*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R287*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	367					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R367*(10)|p.R287*(3)|p.R128*(3)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTTCTCCTCGCCTCCAGTTA	0.388			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		17	Substitution - Nonsense(16)|Unknown(1)	p.R367*(10)|p.R287*(3)|p.R128*(3)|p.?(1)	large_intestine(10)|upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|endometrium(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1099-1101)Cga>Tga		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							335	288	304					4																	153251907		2203	4300	6503	SO:0001587	stop_gained	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153251907G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1099C>T	4.37:g.153251907G>A	ENSP00000281708:p.Arg367*		Somatic				FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R287*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R367*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R367*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R191*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R249*	p.R367*	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			7	2328	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	367					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.1099C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	37	6.344024	0.97489	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	6.07	5.22	0.72569	.	0.052867	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-12.733	16.6928	0.85326	0.0:0.0:0.8693:0.1307	.	.	.	.	X	367;249;287;191	.	ENSP00000263981:R287X	R	-	1	2	FBXW7	153471357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.642000	0.46596	1.556000	0.49512	0.650000	0.86243	CGA		0.388	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			17	33	0	0	0	1	0	17	33					A	153251907	G	A	153251907	4	1	5	1	0	0	0	0	0	1	0	0	5777	1095	38	1	1048	1	FBXW7	4	153251907	Nonsense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	69425846	153251907	37902369	19	295										
IRX1	79192	broad.mit.edu	37	chr5	3600104	3600104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	ccggcgcgcacgggccctccGccggggcgccgctgcaacac	15	20	0	0			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr5:3600104G>A	ENST00000302006.3	+	2	1094	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	348					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						cgggccctccgccggggcgcc	0.706																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1042-1044)Gcc>Acc		iroquois homeobox 1							11	9	10					5																	3600104		2078	4056	6134	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3600104G>A	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.1042G>A	5.37:g.3600104G>A	ENSP00000305244:p.Ala348Thr		Somatic				CTD-2012M11.3_ENST00000559410.1_RNA	p.A348T	NM_024337.3	NP_077313.3	WXS	Illumina GAIIx	Phase_I	P78414	IRX1_HUMAN			2	1094	+			348					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.1042G>A	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	1.237	-0.622328	0.03636	.	.	ENSG00000170549	ENST00000302006	T	0.59906	0.23	4.19	0.298	0.15766	.	0.675230	0.14475	N	0.317287	T	0.32823	0.0842	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17531	-1.0366	10	0.17369	T	0.5	-5.8883	6.9845	0.24721	0.4581:0.0:0.5419:0.0	.	348	P78414	IRX1_HUMAN	T	348	ENSP00000305244:A348T	ENSP00000305244:A348T	A	+	1	0	IRX1	3653104	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	1.350000	0.34010	0.049000	0.15920	0.563000	0.77884	GCC		0.706	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		7	0	0	0	0	1	0	7	0					A	3600104	G	A	3600104	3	1	5	1	0	0	0	0	1	0	0	0	7852	1087	38	1	1048	1	IRX1	5	3600104	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08		3600104	177315156	20	296										
NIPBL	25836	broad.mit.edu	37	chr5	37049341	37049341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	ttcacacccagtcaagtgtaCgccactttgccctaaatgtc	6	14	2	0	rs80358376		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr5:37049341C>T	ENST00000282516.8	+	40	7391	c.6892C>T	c.(6892-6894)Cgc>Tgc	p.R2298C	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2298C	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2298			R -> C (in CDLS1). {ECO:0000269|PubMed:15318302}.|R -> H (in CDLS1). {ECO:0000269|PubMed:15318302}.		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)			GTCAAGTGTACGCCACTTTGC	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	GRCh37	CM042519|CM062919	NIPBL	M	rs80358376	c.(6892-6894)Cgc>Tgc		Nipped-B homolog (Drosophila)							224	213	217					5																	37049341		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.chr5:37049341C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6892C>T	5.37:g.37049341C>T	ENSP00000282516:p.Arg2298Cys		Somatic				NIPBL_ENST00000448238.2_Missense_Mutation_p.R2298C	p.R2298C	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)		40	7391	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2298		R -> C (in CDLS1).|R -> H (in CDLS1).			Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.6892C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387250	0.61956	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.97041	-4.22;-4.22	5.55	4.69	0.59074	Armadillo-like helical (1);Armadillo-type fold (1);	0.056418	0.64402	D	0.000002	D	0.98538	0.9512	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99429	1.0935	10	0.87932	D	0	-2.9033	14.3972	0.67020	0.0:0.9288:0.0:0.0712	.	2298;2298	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	C	2298	ENSP00000282516:R2298C;ENSP00000406266:R2298C	ENSP00000282516:R2298C	R	+	1	0	NIPBL	37085098	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.543000	0.60684	1.344000	0.45657	0.585000	0.79938	CGC		0.413	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		21	134	0	0	0	1	0	21	134					T	37049341	C	T	37049341	3	4	5	1	0	0	0	0	1	0	0	0	10437	536	19	1	7046	1	NIPBL	5	37049341	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	33449237	37049341	143865919	21	297										
FAM169A	26049	broad.mit.edu	37	chr5	74137476	74137476	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	attcctcatggctgcaatttTccagcatatccacagggaat	7	11	1	0			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr5:74137476T>C	ENST00000389156.4	-	2	116	c.26A>G	c.(25-27)gAa>gGa	p.E9G	FAM169A_ENST00000380515.3_Missense_Mutation_p.E9G|FAM169A_ENST00000510496.1_Missense_Mutation_p.E9G	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	9						membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GCTGCAATTTTCCAGCATATC	0.378																																						ENST00000389156.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						c.(25-27)gAa>gGa		family with sequence similarity 169, member A							94	84	87					5																	74137476		1844	4102	5946	SO:0001583	missense	26049							g.chr5:74137476T>C		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.26A>G	5.37:g.74137476T>C	ENSP00000373808:p.Glu9Gly		Somatic				FAM169A_ENST00000510496.1_Missense_Mutation_p.E9G|FAM169A_ENST00000380515.3_Missense_Mutation_p.E9G	p.E9G	NM_015566.2	NP_056381.1	WXS	Illumina GAIIx	Phase_I	Q9Y6X4	F169A_HUMAN			2	116	-			9					A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	37	c.26A>G	CCDS43330.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.581500	0.46006	.	.	ENSG00000198780	ENST00000389156;ENST00000510496;ENST00000380515;ENST00000513277;ENST00000514200;ENST00000506954	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.61	3.22	0.36961	.	0.762333	0.11527	N	0.555112	T	0.23210	0.0561	L	0.29908	0.895	0.21740	N	0.999569	B;B	0.18013	0.025;0.01	B;B	0.15484	0.013;0.013	T	0.17776	-1.0358	10	0.48119	T	0.1	-10.5523	9.8544	0.41077	0.0:0.14:0.0:0.86	.	9;9	D6RB01;Q9Y6X4	.;F169A_HUMAN	G	9	ENSP00000373808:E9G;ENSP00000424578:E9G;ENSP00000369886:E9G;ENSP00000423631:E9G;ENSP00000423883:E9G;ENSP00000421451:E9G	ENSP00000369886:E9G	E	-	2	0	FAM169A	74173232	0.870000	0.30015	0.998000	0.56505	0.991000	0.79684	1.006000	0.29847	0.972000	0.38314	0.477000	0.44152	GAA		0.378	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2			10	41	0	0	0	1	0	10	41					C	74137476	T	C	74137476	3	2	5	1	0	0	0	0	1	0	0	0	5492	1783	62	4	2034	4	FAM169A	5	74137476	Missense_Mutation	SNP	T	TCGA-N5-A4RJ-01A-11D-A28R-08	37088135	74137476	106777784	22	298										
MAML1	9794	broad.mit.edu	37	chr5	179195869	179195869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	aggagcagaacccttccagtGtccctgtgcaagcccaggct	11	14	0	1			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr5:179195869G>A	ENST00000292599.3	+	3	2013	c.1750G>A	c.(1750-1752)Gtc>Atc	p.V584I	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)			CCCTTCCAGTGTCCCTGTGCA	0.562																																						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.(1750-1752)Gtc>Atc		mastermind-like 1 (Drosophila)							144	164	157					5																	179195869		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.chr5:179195869G>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.1750G>A	5.37:g.179195869G>A	ENSP00000292599:p.Val584Ile		Somatic				MAML1_ENST00000503050.1_3'UTR	p.V584I	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)		3	2013	+	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)	584						Missense_Mutation	SNP	ENST00000292599.3	37	c.1750G>A	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336286	0.24253	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.47869	0.83	4.59	3.65	0.41850	.	0.202766	0.33040	N	0.005350	T	0.34221	0.0890	L	0.60455	1.87	0.30695	N	0.750904	B;B	0.33637	0.42;0.081	B;B	0.25506	0.061;0.052	T	0.26292	-1.0107	10	0.23891	T	0.37	-20.122	5.3899	0.16237	0.178:0.1752:0.6467:0.0	.	621;584	Q59GH4;Q92585	.;MAML1_HUMAN	I	584;621	ENSP00000292599:V584I	ENSP00000292599:V584I	V	+	1	0	MAML1	179128475	0.968000	0.33430	0.389000	0.26208	0.818000	0.46254	1.321000	0.33678	2.095000	0.63458	0.462000	0.41574	GTC		0.562	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		67	149	0	0	0	1	0	67	149					A	179195869	G	A	179195869	3	1	5	1	0	0	0	0	1	0	0	0	9214	1377	48	3	1760	3	MAML1	5	179195869	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	105058393	179195869	1719391	23	299										
KIAA0319	9856	broad.mit.edu	37	chr6	24566850	24566850	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	ctgctggactctggccatccCggatccacagataggacaca	10	14	1	1			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:24566850C>A	ENST00000378214.3	-	14	2791	c.2267G>T	c.(2266-2268)cGg>cTg	p.R756L	KIAA0319_ENST00000535378.1_Missense_Mutation_p.R747L|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R711L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R756L	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	756	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGGCCATCCCGGATCCACAG	0.463																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(2239-2241)cGg>cTg		KIAA0319							99	96	97					6																	24566850		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24566850C>A	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2267G>T	6.37:g.24566850C>A	ENSP00000367459:p.Arg756Leu		Somatic				KIAA0319_ENST00000537886.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000378214.3_Missense_Mutation_p.R756L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R711L	p.R747L	NM_001168374.1	NP_001161846.1	WXS	Illumina GAIIx	Phase_I	Q5VV43	K0319_HUMAN			15	2882	-			756			PKD 5.		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.2240G>T	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534720	0.85812	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71	4.01	4.01	0.46588	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (2);	0.000000	0.64402	D	0.000005	T	0.20495	0.0493	L	0.39514	1.22	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.03112	-1.1071	10	0.72032	D	0.01	-18.6805	16.3188	0.82938	0.0:1.0:0.0:0.0	.	756;747;756	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	L	756;747;711;756;756	ENSP00000439700:R756L;ENSP00000442403:R747L;ENSP00000401086:R711L;ENSP00000367459:R756L;ENSP00000437656:R756L	ENSP00000367459:R756L	R	-	2	0	KIAA0319	24674829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.679000	0.61649	2.055000	0.61198	0.591000	0.81541	CGG		0.463	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		10	78	1	0	6.42651e-13	1	7.37859e-13	10	78					A	24566850	C	A	24566850	3	1	5	1	0	0	0	0	1	0	0	0	8177	652	23	5	983	5	KIAA0319	6	24566850	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08		24566850	146548217	24	300										
KIAA0319	9856	broad.mit.edu	37	chr6	24596359	24596359	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	agtaggccccagtccgtgtaCtcggcactccctctgggctc	11	16	1	0			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:24596359C>T	ENST00000378214.3	-	3	1067	c.543G>A	c.(541-543)gaG>gaA	p.E181E	KIAA0319_ENST00000535378.1_Silent_p.E172E|KIAA0319_ENST00000430948.2_Silent_p.E136E|KIAA0319_ENST00000543707.1_Silent_p.E181E|KIAA0319_ENST00000537886.1_Silent_p.E181E	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	181					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						AGTCCGTGTACTCGGCACTCC	0.637																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(514-516)gaG>gaA		KIAA0319							47	48	48					6																	24596359		2203	4300	6503	SO:0001819	synonymous_variant	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596359C>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.543G>A	6.37:g.24596359C>T			Somatic				KIAA0319_ENST00000537886.1_Silent_p.E181E|KIAA0319_ENST00000378214.3_Silent_p.E181E|KIAA0319_ENST00000543707.1_Silent_p.E181E|KIAA0319_ENST00000430948.2_Silent_p.E136E	p.E172E	NM_001168374.1	NP_001161846.1	WXS	Illumina GAIIx	Phase_I	Q5VV43	K0319_HUMAN			4	1158	-			181					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	ENST00000378214.3	37	c.516G>A	CCDS34348.1																																																																																				0.637	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		31	31	0	0	0	1	0	31	31					T	24596359	C	T	24596359	2	4	5	1	0	0	0	0	0	0	0	1	8177	564	20	3		3	KIAA0319	6	24596359	Silent	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	29509	24596359	146518708	25	301										
CUL9	23113	broad.mit.edu	37	chr6	43155158	43155159	+	Frame_Shift_Del	DEL	TT	TT	-													0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	gcagccaattttccagaatcTttggaagaacctggatgagg							TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:43155158_43155159delTT	ENST00000252050.4	+	6	1646_1647	c.1562_1563delTT	c.(1561-1563)cttfs	p.L521fs	CUL9_ENST00000354495.3_Intron|CUL9_ENST00000372647.2_Frame_Shift_Del_p.L521fs	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	521					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						TTCCAGAATCTTTGGAAGAACC	0.45																																						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.(1561-1563)cfs		cullin 9																																				SO:0001589	frameshift_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43155158_43155159delTT	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.1562_1563delTT	6.37:g.43155158_43155159delTT	ENSP00000252050:p.Leu521fs		Somatic				CUL9_ENST00000372647.2_Frame_Shift_Del_p.L521fs|CUL9_ENST00000354495.3_Intron	p.L521fs	NM_015089.2	NP_055904.1	WXS	Illumina GAIIx	Phase_I	Q8IWT3	CUL9_HUMAN			6	1646_1647	+			521					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Frame_Shift_Del	DEL	ENST00000252050.4	37	c.1562_1563delTT	CCDS4890.1																																																																																				0.45	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		62	64						62	64	---	---	---	---	-	43155159	TT	-	43155158	7	5	5	1	0	1	0	1	0	0	0	0	4063	1609	56	0	1580	0	CUL9	6	43155158	Frame_Shift_Del	DEL	TT	TCGA-N5-A4RJ-01A-11D-A28R-08	18558799	43155158	127959909	26	302										
SYNE1	23345	broad.mit.edu	37	chr6	152554983	152554983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	tccactggctatcaatgcgcGacagctcagagcgcagcgtg	12	13	2	1	rs373012438		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:152554983G>A	ENST00000367255.5	-	112	21246	c.20645C>T	c.(20644-20646)tCg>tTg	p.S6882L	SYNE1_ENST00000356820.4_Missense_Mutation_p.S1406L|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6811L|SYNE1_ENST00000341594.5_Missense_Mutation_p.S6494L|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6882L|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6811L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6882					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)		ATCAATGCGCGACAGCTCAGA	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.(20644-20646)tCg>tTg		spectrin repeat containing, nuclear envelope 1		G	LEU/SER,LEU/SER	0,4406		0,0,2203	88	78	81		20645,20432	5.1	0.9	6		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SYNE1	NM_182961.3,NM_033071.3	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	6882/8798,6811/8750	152554983	1,13005	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.chr6:152554983G>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.20645C>T	6.37:g.152554983G>A	ENSP00000356224:p.Ser6882Leu	HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000341594.5_Missense_Mutation_p.S6494L|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6882L|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6811L|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6811L|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1406L	p.S6882L	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)	112	21246	-		Ovarian(120;0.0955)	6882					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.20645C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203374	0.58234	0.0	1.16E-4	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.53206	0.68;0.68;0.68;0.68;0.68;0.63	5.93	5.06	0.68205	.	0.111909	0.40385	N	0.001118	T	0.26810	0.0656	L	0.54323	1.7	0.35341	D	0.786517	B;B;P	0.39044	0.303;0.303;0.656	B;B;B	0.30401	0.054;0.054;0.115	T	0.13926	-1.0491	10	0.31617	T	0.26	.	17.3279	0.87255	0.0:0.1249:0.8751:0.0	.	6882;6882;6811	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	L	6882;6811;6882;6811;6494;1406	ENSP00000356224:S6882L;ENSP00000396024:S6811L;ENSP00000265368:S6882L;ENSP00000390975:S6811L;ENSP00000341887:S6494L;ENSP00000349276:S1406L	ENSP00000265368:S6882L	S	-	2	0	SYNE1	152596676	1.000000	0.71417	0.891000	0.34965	0.663000	0.39108	4.501000	0.60393	1.498000	0.48600	0.655000	0.94253	TCG		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		24	38	0	0	0	1	0	24	38					A	152554983	G	A	152554983	3	1	5	1	0	0	0	0	1	0	0	0	15460	1059	37	1	5961	1	SYNE1	6	152554983	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	109399825	152554983	18560084	27	303										
MAP3K4	4216	broad.mit.edu	37	chr6	161530808	161530808	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	aagaaatgtacatcttcatgGagtactgcgatgaggggact	12	6	2	2			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:161530808G>T	ENST00000392142.4	+	23	4406	c.4258G>T	c.(4258-4260)Gag>Tag	p.E1420*	MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.E1370*|MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.E1366*|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.E1416*	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1420	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)		CATCTTCATGGAGTACTGCGA	0.443																																						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.(4258-4260)Gag>Tag		mitogen-activated protein kinase kinase kinase 4							125	115	119					6																	161530808		2203	4300	6503	SO:0001587	stop_gained	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.chr6:161530808G>T	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.4258G>T	6.37:g.161530808G>T	ENSP00000375986:p.Glu1420*		Somatic				MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.E1366*|MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.E1370*|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.E1416*	p.E1420*	NM_005922.2	NP_005913.2	WXS	Illumina GAIIx	Phase_I	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	23	4406	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1420			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Nonsense_Mutation	SNP	ENST00000392142.4	37	c.4258G>T	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	45	11.345923	0.99549	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-32.9205	17.0102	0.86404	0.0:0.0:1.0:0.0	.	.	.	.	X	1370;1420;1370;1416;1366	.	ENSP00000297332:E1366X	E	+	1	0	MAP3K4	161450798	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.787000	0.99055	2.447000	0.82792	0.563000	0.77884	GAG		0.443	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			35	33	1	0	9.04072e-19	1	1.05098e-18	35	33					T	161530808	G	T	161530808	4	4	5	1	0	0	0	0	0	1	0	0	9261	1175	41	2	4348	2	MAP3K4	6	161530808	Nonsense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	8975825	161530808	9584259	28	304										
DGKB	1607	broad.mit.edu	37	chr7	14741318	14741318	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	aaaattaccgagctgtccagGaagccattcccatccgtgtc	8	13	0	0			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:14741318G>A	ENST00000403951.2	-	7	923	c.504C>T	c.(502-504)ttC>ttT	p.F168F	DGKB_ENST00000258767.5_Silent_p.F168F|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Silent_p.F168F|DGKB_ENST00000407950.1_Silent_p.F161F|DGKB_ENST00000444700.2_Silent_p.F161F|DGKB_ENST00000402815.1_Silent_p.F168F|DGKB_ENST00000399322.3_Silent_p.F168F			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	168	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						AGCTGTCCAGGAAGCCATTCC	0.328																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(502-504)ttC>ttT		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						82	80	80					7																	14741318		1830	4083	5913	SO:0001819	synonymous_variant	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14741318G>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.504C>T	7.37:g.14741318G>A			Somatic				DGKB_ENST00000407950.1_Silent_p.F161F|DGKB_ENST00000406247.3_Silent_p.F168F|DGKB_ENST00000402815.1_Silent_p.F168F|DGKB_ENST00000399322.3_Silent_p.F168F|DGKB_ENST00000258767.5_Silent_p.F168F|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Silent_p.F161F	p.F168F			WXS	Illumina GAIIx	Phase_I	Q9Y6T7	DGKB_HUMAN			7	923	-			168			EF-hand 1.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	ENST00000403951.2	37	c.504C>T	CCDS47547.1																																																																																				0.328	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		8	25	0	0	0	1	0	8	25					A	14741318	G	A	14741318	2	1	5	1	0	0	0	0	0	0	0	1	4468	1165	41	3		3	DGKB	7	14741318	Silent	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08		14741318	144397345	29	305										
CALN1	83698	broad.mit.edu	37	chr7	71743757	71743757	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	tgaggtaattccccttgtacAacaagccggcggtcacatgg	11	11	1	1			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:71743757A>G	ENST00000329008.5	-	2	330	c.32T>C	c.(31-33)tTg>tCg	p.L11S	CALN1_ENST00000395275.2_Missense_Mutation_p.L53S|CALN1_ENST00000431984.1_Missense_Mutation_p.L11S|CALN1_ENST00000405452.2_Missense_Mutation_p.L11S|CALN1_ENST00000395276.2_Missense_Mutation_p.L11S|CALN1_ENST00000412588.1_Missense_Mutation_p.L53S	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CCCCTTGTACAACAAGCCGGC	0.522																																						ENST00000395275.2																			0				biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(157-159)tTg>tCg		calneuron 1							87	64	72					7																	71743757		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71743757A>G	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"EF-hand domain containing"	13248	protein-coding gene	gene with protein product	"calcium-binding protein CABP8"	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.32T>C	7.37:g.71743757A>G	ENSP00000332498:p.Leu11Ser		Somatic				CALN1_ENST00000431984.1_Missense_Mutation_p.L11S|CALN1_ENST00000395276.2_Missense_Mutation_p.L11S|CALN1_ENST00000405452.2_Missense_Mutation_p.L11S|CALN1_ENST00000412588.1_Missense_Mutation_p.L53S|CALN1_ENST00000329008.5_Missense_Mutation_p.L11S	p.L53S	NM_031468.3	NP_113656.2	WXS	Illumina GAIIx	Phase_I	Q9BXU9	CABP8_HUMAN			3	546	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	11			EF-hand 1.		J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.158T>C	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599792	0.87055	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	T;T;T;T;T;T;T	0.75260	-0.54;-0.5;-0.54;-0.54;-0.5;-0.54;-0.92	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000001	T	0.67590	0.2909	N	0.19112	0.55	0.39017	D	0.95967	D;D	0.53151	0.958;0.958	P;P	0.47827	0.558;0.558	T	0.71140	-0.4679	10	0.39692	T	0.17	-40.3214	15.5763	0.76392	1.0:0.0:0.0:0.0	.	11;11	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	S	11;53;11;11;53;11;11	ENSP00000332498:L11S;ENSP00000378690:L53S;ENSP00000378691:L11S;ENSP00000410704:L11S;ENSP00000391882:L53S;ENSP00000384354:L11S;ENSP00000411806:L11S	ENSP00000332498:L11S	L	-	2	0	CALN1	71381693	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.871000	0.92346	2.272000	0.75746	0.460000	0.39030	TTG		0.522	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		12	27	0	0	0	1	0	12	27					G	71743757	A	G	71743757	3	3	5	1	0	0	0	0	1	0	0	0	2593	131	5	4	647	4	CALN1	7	71743757	Missense_Mutation	SNP	A	TCGA-N5-A4RJ-01A-11D-A28R-08	57002439	71743757	87394906	30	306										
LRRC4	64101	broad.mit.edu	37	chr7	127670549	127670549	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	ctggttactgcacgagcagaCggaggggcagttctggggcc	17	10	1	1			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:127670549C>G	ENST00000249363.3	-	2	402	c.145G>C	c.(145-147)Gtc>Ctc	p.V49L	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	49	LRRNT.				postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CACGAGCAGACGGAGGGGCAG	0.647																																						ENST00000249363.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26						c.(145-147)Gtc>Ctc		leucine rich repeat containing 4							78	85	82					7																	127670549		2203	4300	6503	SO:0001583	missense	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127670549C>G	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"Immunoglobulin superfamily / I-set domain containing"	15586	protein-coding gene	gene with protein product		610486	"leucine-rich repeat-containing 4"			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.145G>C	7.37:g.127670549C>G	ENSP00000249363:p.Val49Leu		Somatic				SND1_ENST00000354725.3_Intron	p.V49L	NM_022143.4	NP_071426.1	WXS	Illumina GAIIx	Phase_I	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	402	-			49			LRRNT.		A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	c.145G>C	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522817	0.27211	.	.	ENSG00000128594	ENST00000249363;ENST00000476782;ENST00000478726	T;D	0.96073	4.47;-3.9	4.66	4.66	0.58398	Leucine-rich repeat-containing N-terminal (1);	0.508933	0.16557	N	0.209210	D	0.89622	0.6768	N	0.12746	0.255	0.49051	D	0.999742	B	0.02656	0.0	B	0.04013	0.001	D	0.85052	0.0929	10	0.26408	T	0.33	.	15.09	0.72185	0.0:1.0:0.0:0.0	.	49	Q9HBW1	LRRC4_HUMAN	L	49	ENSP00000249363:V49L;ENSP00000418093:V49L	ENSP00000249363:V49L	V	-	1	0	LRRC4	127457785	0.968000	0.33430	0.998000	0.56505	0.991000	0.79684	2.638000	0.46562	2.373000	0.80994	0.655000	0.94253	GTC		0.647	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		5	126	0	0	0	1	0	5	126					G	127670549	C	G	127670549	3	3	5	1	0	0	0	0	1	0	0	0	9006	536	19	5	1820	5	LRRC4	7	127670549	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	55926792	127670549	31468114	31	307										
GIMAP4	55303	broad.mit.edu	37	chr7	150269569	150269569	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	cacaaagccacagagaagatCctgaaaatgtttggagagag	11	7	0	4			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:150269569C>A	ENST00000255945.2	+	3	586	c.411C>A	c.(409-411)atC>atA	p.I137I	GIMAP4_ENST00000461940.1_Silent_p.I151I|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	137	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGAGAAGATCCTGAAAATGT	0.483																																						ENST00000255945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(409-411)atC>atA		GTPase, IMAP family member 4							80	77	78					7																	150269569		2203	4300	6503	SO:0001819	synonymous_variant	55303						GTP binding	g.chr7:150269569C>A	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"GTPases, IMAP"	21872	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 1"	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.411C>A	7.37:g.150269569C>A			Somatic				GIMAP4_ENST00000461940.1_Silent_p.I151I|GIMAP4_ENST00000494750.1_3'UTR	p.I137I	NM_018326.2	NP_060796.1	WXS	Illumina GAIIx	Phase_I	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	586	+			137						Silent	SNP	ENST00000255945.2	37	c.411C>A	CCDS5904.1																																																																																				0.483	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		17	44	1	0	1.15088e-07	1	1.27419e-07	17	44					A	150269569	C	A	150269569	2	1	5	1	0	0	0	0	0	0	0	1	6389	845	30	2		2	GIMAP4	7	150269569	Silent	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	22599020	150269569	8869094	32	308										
LZTS1	11178	broad.mit.edu	37	chr8	20107496	20107496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	ttgccgctcctcccgcagctCggcccgcagccgctccagct	10	21	0	0	rs199603808		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr8:20107496C>T	ENST00000381569.1	-	4	1885	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	LZTS1_ENST00000522290.1_Intron|LZTS1_ENST00000265801.6_Missense_Mutation_p.E510K			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	510					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCCCGCAGCTCGGCCCGCAGC	0.701																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1528-1530)Gag>Aag		leucine zipper, putative tumor suppressor 1							46	50	49					8																	20107496		2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20107496C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1528G>A	8.37:g.20107496C>T	ENSP00000370981:p.Glu510Lys		Somatic				LZTS1_ENST00000522290.1_Intron|LZTS1_ENST00000265801.6_Missense_Mutation_p.E510K	p.E510K			WXS	Illumina GAIIx	Phase_I	Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	4	1885	-			510					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.1528G>A	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	c	26.2	4.713867	0.89112	.	.	ENSG00000061337	ENST00000381569;ENST00000265801	T;T	0.52983	0.64;0.64	4.97	4.1	0.47936	.	0.176391	0.49916	N	0.000128	T	0.51890	0.1701	M	0.83603	2.65	0.58432	D	0.999992	D	0.56746	0.977	B	0.43123	0.409	T	0.59150	-0.7508	10	0.46703	T	0.11	-41.8419	11.9069	0.52717	0.0:0.9145:0.0:0.0855	.	510	Q9Y250	LZTS1_HUMAN	K	510	ENSP00000370981:E510K;ENSP00000265801:E510K	ENSP00000265801:E510K	E	-	1	0	LZTS1	20151776	1.000000	0.71417	0.938000	0.37757	0.940000	0.58332	3.859000	0.55987	1.101000	0.41535	0.556000	0.70494	GAG		0.701	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		36	13	0	0	0	1	0	36	13					T	20107496	C	T	20107496	3	4	5	1	0	0	0	0	1	0	0	0	9147	893	31	1	266	1	LZTS1	8	20107496	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08		20107496	126256526	33	309										
PRKCQ	5588	broad.mit.edu	37	chr10	6506275	6506275	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	aaccctttaaagcctcttacGtcgctctggaaaggtcgaac	8	12	2	0			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr10:6506275G>A	ENST00000263125.5	-	13	1544	c.1445C>T	c.(1444-1446)aCg>aTg	p.T482M	PRKCQ_ENST00000539722.1_Splice_Site_p.T357M|PRKCQ_ENST00000397176.2_Splice_Site_p.T482M	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	482	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	AGCCTCTTACGTCGCTCTGGA	0.458																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.e13+1		protein kinase C, theta							265	273	270					10																	6506275		2203	4300	6503	SO:0001630	splice_region_variant	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6506275G>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1445+1C>T	10.37:g.6506275G>A			Somatic				PRKCQ_ENST00000539722.1_Splice_Site_p.T357_splice|PRKCQ_ENST00000397176.2_Splice_Site_p.T482_splice	p.T482_splice	NM_006257.3	NP_006248.1	WXS	Illumina GAIIx	Phase_I	Q04759	KPCT_HUMAN			13	1544	-			482			Protein kinase.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Splice_Site	SNP	ENST00000263125.5	37	c.1445_splice	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.26|10.26	1.301373|1.301373	0.23736|0.23736	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000397178|ENST00000263125;ENST00000397176;ENST00000539722	.|T;T;T	.|0.65732	.|-0.17;-0.17;-0.17	5.11|5.11	4.21|4.21	0.49690|0.49690	.|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|T	0.59514|0.59514	0.2199|0.2199	N|N	0.16656|0.16656	0.425|0.425	0.80722|0.80722	D|D	1|1	.|P;D;P;D	.|0.76494	.|0.696;0.977;0.644;0.999	.|B;P;B;D	.|0.63957	.|0.178;0.579;0.193;0.92	T|T	0.56914|0.56914	-0.7900|-0.7900	5|9	.|.	.|.	.|.	.|.	10.009|10.009	0.41975|0.41975	0.0756:0.1384:0.786:0.0|0.0756:0.1384:0.786:0.0	.|.	.|357;254;482;482	.|B4DF52;Q5JUN8;Q04759-2;Q04759	.|.;.;.;KPCT_HUMAN	C|M	255|482;482;357	.|ENSP00000263125:T482M;ENSP00000380361:T482M;ENSP00000441752:T357M	.|.	R|T	-|-	1|2	0|0	PRKCQ|PRKCQ	6546281|6546281	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.180000|0.180000	0.23129|0.23129	3.044000|3.044000	0.49830|0.49830	1.151000|1.151000	0.42436|0.42436	-0.251000|-0.251000	0.11542|0.11542	CGT|ACG		0.458	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257	Missense_Mutation	175	210	0	0	0	1	0	175	210					A	6506275	G	A	6506275	5	1	5	1	0	0	0	0	0	0	1	0	12527	1159	40	1	699	1	PRKCQ	10	6506275	Splice_Site	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08		6506275	129028472	34	310										
SFMBT2	57713	broad.mit.edu	37	chr10	7214029	7214029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	ccgagggcacctccgccgacGaggtgtccgtctggtcatcc	13	16	2	0			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr10:7214029G>A	ENST00000361972.4	-	19	2333	c.2243C>T	c.(2242-2244)tCg>tTg	p.S748L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.S748L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	748					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						CTCCGCCGACGAGGTGTCCGT	0.711																																						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.(2242-2244)tCg>tTg		Scm-like with four mbt domains 2							22	26	25					10																	7214029		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7214029G>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.2243C>T	10.37:g.7214029G>A	ENSP00000355109:p.Ser748Leu		Somatic				SFMBT2_ENST00000397167.1_Missense_Mutation_p.S748L	p.S748L	NM_001018039.1	NP_001018049.1	WXS	Illumina GAIIx	Phase_I	Q5VUG0	SMBT2_HUMAN			19	2333	-			748					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.2243C>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644447	0.67244	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.18657	2.2;2.2	5.25	4.34	0.51931	.	0.222920	0.47852	D	0.000208	T	0.22360	0.0539	M	0.74258	2.255	0.80722	D	1	P	0.52316	0.952	B	0.34536	0.185	T	0.14364	-1.0475	10	0.46703	T	0.11	.	14.1907	0.65637	0.0734:0.0:0.9266:0.0	.	748	Q5VUG0	SMBT2_HUMAN	L	748	ENSP00000355109:S748L;ENSP00000380353:S748L	ENSP00000355109:S748L	S	-	2	0	SFMBT2	7254035	1.000000	0.71417	0.515000	0.27774	0.245000	0.25701	6.854000	0.75440	1.176000	0.42840	0.561000	0.74099	TCG		0.711	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		5	22	0	0	0	1	0	5	22					A	7214029	G	A	7214029	3	1	5	1	0	0	0	0	1	0	0	0	14173	1059	37	1	453	1	SFMBT2	10	7214029	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	707754	7214029	128320718	35	311										
MS4A15	219995	broad.mit.edu	37	chr11	60541407	60541407	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	cttcgggtgccaagccatccAtgcccaggccagtgcagtga	12	14	0	1			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr11:60541407A>T	ENST00000405633.3	+	6	675	c.596A>T	c.(595-597)cAt>cTt	p.H199L	MS4A15_ENST00000337911.4_Missense_Mutation_p.H106L|MS4A15_ENST00000528170.1_Missense_Mutation_p.H158L	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	199						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						CAAGCCATCCATGCCCAGGCC	0.607																																						ENST00000405633.3																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(595-597)cAt>cTt		membrane-spanning 4-domains, subfamily A, member 15							155	123	134					11																	60541407		2203	4300	6503	SO:0001583	missense	219995					integral to membrane	receptor activity	g.chr11:60541407A>T	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.596A>T	11.37:g.60541407A>T	ENSP00000386022:p.His199Leu		Somatic				MS4A15_ENST00000337911.4_Missense_Mutation_p.H106L|MS4A15_ENST00000528170.1_Missense_Mutation_p.H158L	p.H199L	NM_001098835.1	NP_001092305.1	WXS	Illumina GAIIx	Phase_I	Q8N5U1	M4A15_HUMAN			6	675	+			199					A9UJY6|A9UJY7|F2Z2J5	Missense_Mutation	SNP	ENST00000405633.3	37	c.596A>T	CCDS44617.1	.	.	.	.	.	.	.	.	.	.	A	3.831	-0.035817	0.07497	.	.	ENSG00000166961	ENST00000528170;ENST00000337911;ENST00000405633	T;T;T	0.13196	2.61;2.62;3.02	4.96	3.06	0.35304	.	0.762686	0.12796	N	0.438385	T	0.05090	0.0136	N	0.02539	-0.55	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.11329	0.004;0.006	T	0.41875	-0.9484	10	0.26408	T	0.33	-10.4768	6.1894	0.20516	0.0964:0.0:0.7199:0.1837	.	158;199	F2Z2J5;Q8N5U1	.;M4A15_HUMAN	L	158;106;199	ENSP00000434165:H158L;ENSP00000338692:H106L;ENSP00000386022:H199L	ENSP00000338692:H106L	H	+	2	0	MS4A15	60297983	0.007000	0.16637	0.001000	0.08648	0.000000	0.00434	1.109000	0.31135	0.496000	0.27904	-0.137000	0.14449	CAT		0.607	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			57	6	0	0	0	1	0	57	6					T	60541407	A	T	60541407	3	4	5	1	0	0	0	0	1	0	0	0	9868	217	8	4	614	4	MS4A15	11	60541407	Missense_Mutation	SNP	A	TCGA-N5-A4RJ-01A-11D-A28R-08		60541407	74465109	36	312										
CD248	57124	broad.mit.edu	37	chr11	66082813	66082813	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	gcttgagggggtagctgggcAccgagggtggtgaccagagg	21	7	0	3			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr11:66082813A>G	ENST00000311330.3	-	1	1702	c.1686T>C	c.(1684-1686)ggT>ggC	p.G562G	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	562	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GTAGCTGGGCACCGAGGGTGG	0.622																																						ENST00000311330.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(1684-1686)ggT>ggC		CD248 molecule, endosialin	Cefalotin(DB00456)						95	104	101					11																	66082813		2200	4295	6495	SO:0001819	synonymous_variant	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66082813A>G	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"CD molecules"	18219	protein-coding gene	gene with protein product	"endosialin", "tumor endothelial marker 1"	606064	"CD164 sialomucin-like 1", "CD248 antigen, endosialin"	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1686T>C	11.37:g.66082813A>G			Somatic				RP11-867G23.13_ENST00000534065.1_RNA	p.G562G	NM_020404.2	NP_065137.1	WXS	Illumina GAIIx	Phase_I	Q9HCU0	CD248_HUMAN			1	1702	-			562			Pro-rich.		Q2M2V5|Q3SX55|Q96KB6	Silent	SNP	ENST00000311330.3	37	c.1686T>C	CCDS8134.1																																																																																				0.622	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		47	54	0	0	0	1	0	47	54					G	66082813	A	G	66082813	2	3	5	1	0	0	0	0	0	0	0	1	2991	146	6	4		4	CD248	11	66082813	Silent	SNP	A	TCGA-N5-A4RJ-01A-11D-A28R-08	5541406	66082813	68923703	37	313										
LMO3	55885	broad.mit.edu	37	chr12	16704161	16704161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	ggtgatgttgatagatcagcGaacctggggtgcataacctt	13	7	1	3			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr12:16704161G>A	ENST00000320122.6	-	4	955	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	LMO3_ENST00000441439.2_Missense_Mutation_p.R145C|LMO3_ENST00000541846.1_Missense_Mutation_p.R145C|LMO3_ENST00000535535.1_Missense_Mutation_p.R145C|LMO3_ENST00000537304.1_Missense_Mutation_p.R145C|LMO3_ENST00000261169.6_Missense_Mutation_p.R156C|LMO3_ENST00000447609.1_Missense_Mutation_p.R145C|LMO3_ENST00000354662.1_Missense_Mutation_p.R145C|LMO3_ENST00000541295.1_Missense_Mutation_p.R163C|LMO3_ENST00000540445.1_Missense_Mutation_p.R167C|LMO3_ENST00000534946.1_Missense_Mutation_p.R145C|LMO3_ENST00000540848.1_Missense_Mutation_p.R145C	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				ATAGATCAGCGAACCTGGGGT	0.378																																						ENST00000320122.6																			0				endometrium(2)|large_intestine(2)|skin(1)	5						c.(433-435)Cgc>Tgc		LIM domain only 3 (rhombotin-like 2)							183	168	173					12																	16704161		2203	4300	6503	SO:0001583	missense	55885				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding	g.chr12:16704161G>A	BC026311	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	12p13	2004-05-19			ENSG00000048540	ENSG00000048540			6643	protein-coding gene	gene with protein product		180386		RBTNL2		11489251	Standard	NM_018640		Approved	Rhom-3, DAT1	uc010shy.2	Q8TAP4	OTTHUMG00000168837	ENST00000320122.6:c.433C>T	12.37:g.16704161G>A	ENSP00000312856:p.Arg145Cys		Somatic				LMO3_ENST00000537304.1_Missense_Mutation_p.R145C|LMO3_ENST00000541846.1_Missense_Mutation_p.R145C|LMO3_ENST00000447609.1_Missense_Mutation_p.R145C|LMO3_ENST00000541295.1_Missense_Mutation_p.R163C|LMO3_ENST00000441439.2_Missense_Mutation_p.R145C|LMO3_ENST00000354662.1_Missense_Mutation_p.R145C|LMO3_ENST00000540848.1_Missense_Mutation_p.R145C|LMO3_ENST00000534946.1_Missense_Mutation_p.R145C|LMO3_ENST00000535535.1_Missense_Mutation_p.R145C|LMO3_ENST00000261169.6_Missense_Mutation_p.R156C|LMO3_ENST00000540445.1_Missense_Mutation_p.R167C	p.R145C	NM_001243611.1	NP_001230540.1	WXS	Illumina GAIIx	Phase_I	Q8TAP4	LMO3_HUMAN			4	955	-		Hepatocellular(102;0.244)	145					B4DG90|B4DH35|Q58A66|Q58A67|Q8N974|Q9UDD5	Missense_Mutation	SNP	ENST00000320122.6	37	c.433C>T	CCDS8678.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873372	0.72180	.	.	ENSG00000048540	ENST00000354662;ENST00000441439;ENST00000447609;ENST00000320122;ENST00000261169;ENST00000542544;ENST00000540848;ENST00000535535;ENST00000537304;ENST00000541295;ENST00000534946;ENST00000540445;ENST00000541846	T;T;T;T;T;T;T;T;T;T;T;T	0.35973	1.4;1.4;1.4;1.4;1.28;1.4;1.4;1.4;1.45;1.4;1.66;1.4	5.42	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	N	0.22421	0.69	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.992;0.997	P;P;P;P	0.59288	0.855;0.724;0.53;0.65	T	0.40175	-0.9577	10	0.87932	D	0	.	14.5451	0.68024	0.072:0.0:0.928:0.0	.	167;163;145;156	B4DH35;B4DG90;Q8TAP4;Q58A67	.;.;LMO3_HUMAN;.	C	145;145;145;145;156;125;145;145;145;163;145;167;145	ENSP00000346689:R145C;ENSP00000412479:R145C;ENSP00000413703:R145C;ENSP00000312856:R145C;ENSP00000261169:R156C;ENSP00000445751:R145C;ENSP00000446115:R145C;ENSP00000440099:R145C;ENSP00000446463:R163C;ENSP00000439275:R145C;ENSP00000442786:R167C;ENSP00000444393:R145C	ENSP00000261169:R156C	R	-	1	0	LMO3	16595428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.285000	0.78660	2.521000	0.84997	0.563000	0.77884	CGC		0.378	LMO3-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401279.1	NM_018640		28	12	0	0	0	1	0	28	12					A	16704161	G	A	16704161	3	1	5	1	0	0	0	0	1	0	0	0	8862	1058	37	1	8	1	LMO3	12	16704161	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08		16704161	117147734	38	314										
MSRB3	253827	broad.mit.edu	37	chr12	65857094	65857094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	cggcccaggcagacaaagcgGagctctagagtaatggagag	15	9	1	3			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr12:65857094G>A	ENST00000355192.3	+	6	697	c.571G>A	c.(571-573)Gag>Aag	p.E191K	MSRB3_ENST00000308259.5_Missense_Mutation_p.E184K|MSRB3_ENST00000535664.1_Missense_Mutation_p.E184K	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	191					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		AGACAAAGCGGAGCTCTAGAG	0.448																																						ENST00000308259.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13						c.(550-552)Gag>Aag		methionine sulfoxide reductase B3							43	41	42					12																	65857094		2203	4300	6503	SO:0001583	missense	253827				protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	g.chr12:65857094G>A	BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"deafness, autosomal recessive 74"	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.571G>A	12.37:g.65857094G>A	ENSP00000347324:p.Glu191Lys		Somatic				MSRB3_ENST00000535664.1_Missense_Mutation_p.E184K|MSRB3_ENST00000355192.3_Missense_Mutation_p.E191K	p.E184K	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	WXS	Illumina GAIIx	Phase_I	Q8IXL7	MSRB3_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)	7	824	+			191					B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	37	c.550G>A	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612727	0.46631	.	.	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664	T;T;T	0.66460	-0.21;-0.2;-0.2	5.76	4.85	0.62838	.	0.116251	0.56097	D	0.000023	T	0.63640	0.2528	M	0.63843	1.955	0.52501	D	0.999957	P;B	0.42456	0.78;0.288	B;B	0.38106	0.265;0.109	T	0.65191	-0.6228	9	.	.	.	-3.3711	15.2845	0.73816	0.0:0.1396:0.8604:0.0	.	191;184	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	K	191;184;184	ENSP00000347324:E191K;ENSP00000312274:E184K;ENSP00000441650:E184K	.	E	+	1	0	MSRB3	64143361	1.000000	0.71417	0.901000	0.35422	0.008000	0.06430	5.538000	0.67193	1.541000	0.49316	0.655000	0.94253	GAG		0.448	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080		18	31	0	0	0	1	0	18	31					A	65857094	G	A	65857094	3	1	5	1	0	0	0	0	1	0	0	0	9898	1175	41	3	673	3	MSRB3	12	65857094	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	49152933	65857094	67994801	39	315										
GTF3A	219402	broad.mit.edu	37	chr13	28009312	28009312	+	IGR	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	ttgtacatgatcctgacaagAagaaaatgaagctcaaagta	8	6	1	5			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr13:28009312A>T	ENST00000381116.1	-	0	1104				MTIF3_ENST00000461838.1_5'Flank|GTF3A_ENST00000470606.1_3'UTR|GTF3A_ENST00000381140.4_Nonsense_Mutation_p.K306*			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3						formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TCCTGACAAGAAGAAAATGAA	0.338																																						ENST00000381140.4																			0				breast(1)|lung(1)	2						c.(916-918)Aag>Tag		general transcription factor IIIA							126	112	116					13																	28009312		1568	3582	5150	SO:0001628	intergenic_variant	2971				regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr13:28009312A>T	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633		13.37:g.28009312A>T			Somatic				GTF3A_ENST00000470606.1_3'UTR	p.K306*	NM_002097.2	NP_002088.2	WXS	Illumina GAIIx	Phase_I	Q92664	TF3A_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)	8	1110	+		Lung SC(185;0.0156)	306					Q05BL8|Q5W0V0|Q86X68	Nonsense_Mutation	SNP	ENST00000381116.1	37	c.916A>T	CCDS9322.1	.	.	.	.	.	.	.	.	.	.	A	37	6.376884	0.97515	.	.	ENSG00000122034	ENST00000381140;ENST00000439403	.	.	.	4.94	4.94	0.65067	.	0.172827	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-10.5848	14.8857	0.70567	1.0:0.0:0.0:0.0	.	.	.	.	X	306;119	.	ENSP00000370532:K306X	K	+	1	0	GTF3A	26907312	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	4.558000	0.60789	1.994000	0.58287	0.528000	0.53228	AAG		0.338	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912		29	23	0	0	0	1	0	29	23					T	28009312	A	T	28009312	1	4	5	0	1	0	0	0	0	0	0	0	6880	247	9	4		4	GTF3A	13	28009312	IGR	SNP	A	TCGA-N5-A4RJ-01A-11D-A28R-08		28009312	87160566	40	316										
KBTBD7	84078	broad.mit.edu	37	chr13	41768108	41768108	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	acctgtgaacatgctcttgaAgtagggacacgcagctgcta	11	10	1	2			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr13:41768108A>C	ENST00000379483.3	-	1	594	c.286T>G	c.(286-288)Ttc>Gtc	p.F96V		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	96	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.							p.Y95fs*42(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)		ATGCTCTTGAAGTAGGGACAC	0.602																																						ENST00000379483.3																			1	Deletion - Frameshift(1)	p.Y95fs*42(1)	ovary(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.(286-288)Ttc>Gtc		kelch repeat and BTB (POZ) domain containing 7							83	56	65					13																	41768108		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41768108A>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.286T>G	13.37:g.41768108A>C	ENSP00000368797:p.Phe96Val		Somatic					p.F96V	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	594	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	96			BTB.		B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.286T>G	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.867674	0.72065	.	.	ENSG00000120696	ENST00000379483	D	0.86432	-2.12	4.79	4.79	0.61399	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	U	0.000000	D	0.96062	0.8717	H	0.99011	4.4	0.53688	D	0.999979	D	0.89917	1.0	D	0.87578	0.998	D	0.97140	0.9824	10	0.87932	D	0	.	12.536	0.56142	1.0:0.0:0.0:0.0	.	96	Q8WVZ9	KBTB7_HUMAN	V	96	ENSP00000368797:F96V	ENSP00000368797:F96V	F	-	1	0	KBTBD7	40666108	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.720000	0.91442	1.897000	0.54924	0.460000	0.39030	TTC		0.602	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		20	27	0	0	0	1	0	20	27					C	41768108	A	C	41768108	3	2	5	1	0	0	0	0	1	0	0	0	8007	72	3	4	1772	4	KBTBD7	13	41768108	Missense_Mutation	SNP	A	TCGA-N5-A4RJ-01A-11D-A28R-08	13758796	41768108	73401770	41	317										
MED4	29079	broad.mit.edu	37	chr13	48654103	48654103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	atcagttgggtagggtctccGggggtcccctaaaacaataa	12	9	2	0			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr13:48654103G>A	ENST00000258648.2	-	6	542	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000378586.1_Missense_Mutation_p.R127W|MED4_ENST00000495013.1_5'UTR	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	173					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)		TAGGGTCTCCGGGGGTCCCCT	0.393																																					Pancreas(38;399 1016 9170 13426 20145)	ENST00000258648.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						c.(517-519)Cgg>Tgg		mediator complex subunit 4							68	67	68					13																	48654103		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.chr13:48654103G>A	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.517C>T	13.37:g.48654103G>A	ENSP00000258648:p.Arg173Trp		Somatic				MED4_ENST00000495013.1_5'UTR|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000378586.1_Missense_Mutation_p.R127W	p.R173W	NM_014166.2	NP_054885.1	WXS	Illumina GAIIx	Phase_I	Q9NPJ6	MED4_HUMAN		GBM - Glioblastoma multiforme(144;5.18e-07)	6	542	-		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)	173					B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Missense_Mutation	SNP	ENST00000258648.2	37	c.517C>T	CCDS9408.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277634	0.80692	.	.	ENSG00000136146	ENST00000258648;ENST00000378594;ENST00000378586;ENST00000417167	.	.	.	5.6	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.79924	0.4530	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.83221	-0.0068	9	0.72032	D	0.01	-18.3845	15.3003	0.73945	0.0:0.0:0.8588:0.1412	.	151;173	E9PDW1;Q9NPJ6	.;MED4_HUMAN	W	173;151;127;151	.	ENSP00000258648:R173W	R	-	1	2	MED4	47552104	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.488000	0.66869	1.487000	0.48415	0.563000	0.77884	CGG		0.393	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166		14	28	0	0	0	1	0	14	28					A	48654103	G	A	48654103	3	1	5	1	0	0	0	0	1	0	0	0	9459	1115	39	1	303	1	MED4	13	48654103	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	6885995	48654103	66515775	42	318										
MAZ	4150	broad.mit.edu	37	chr16	29821543	29821543	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	tctcagccacttccctcccaAccctggtgagctccaagttg	7	17	1	1			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr16:29821543A>T	ENST00000322945.6	+	5	1590	c.1425A>T	c.(1423-1425)caA>caT	p.Q475H	MAZ_ENST00000566906.2_Missense_Mutation_p.T130S|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000545521.1_Missense_Mutation_p.Q452H|PRRT2_ENST00000567659.1_5'Flank|MAZ_ENST00000568282.1_3'UTR|AC009133.14_ENST00000563806.1_RNA|PRRT2_ENST00000300797.6_5'Flank|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000568544.1_Missense_Mutation_p.Q76H|MAZ_ENST00000563402.1_Missense_Mutation_p.T132S|MAZ_ENST00000219782.6_3'UTR|PRRT2_ENST00000358758.7_5'Flank|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000562337.1_Missense_Mutation_p.Q170H	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	475					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTCCCTCCCAACCCTGGTGAG	0.637																																					Colon(72;875 1167 15364 30899 37091)	ENST00000322945.6																			0				endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1423-1425)caA>caT		MYC-associated zinc finger protein (purine-binding transcription factor)							8	10	9					16																	29821543		1904	4107	6011	SO:0001583	missense	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29821543A>T	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"Zinc fingers, C2H2-type"	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1425A>T	16.37:g.29821543A>T	ENSP00000313362:p.Gln475His		Somatic				MAZ_ENST00000566906.2_Missense_Mutation_p.T130S|MAZ_ENST00000545521.1_Missense_Mutation_p.Q452H|MAZ_ENST00000568544.1_Missense_Mutation_p.Q76H|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000563402.1_Missense_Mutation_p.T132S|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000562337.1_Missense_Mutation_p.Q170H	p.Q475H	NM_002383.2	NP_002374.2	WXS	Illumina GAIIx	Phase_I	P56270	MAZ_HUMAN			5	1590	+			475					A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	ENST00000322945.6	37	c.1425A>T	CCDS42143.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.975946	0.34848	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000544343	T;T	0.12147	2.85;2.71	3.91	2.89	0.33648	.	.	.	.	.	T	0.16642	0.0400	N	0.14661	0.345	0.80722	D	1	D;D;D	0.64830	0.989;0.994;0.989	P;D;P	0.67900	0.801;0.954;0.801	T	0.04693	-1.0933	9	0.62326	D	0.03	.	7.5735	0.27922	0.1188:0.0:0.8812:0.0	.	452;250;475	C6G496;F5H7A6;P56270	.;.;MAZ_HUMAN	H	452;475;250	ENSP00000443956:Q452H;ENSP00000313362:Q475H	ENSP00000313362:Q475H	Q	+	3	2	MAZ	29729044	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.000000	0.40816	1.221000	0.43506	-0.345000	0.07892	CAA		0.637	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		15	6	0	0	0	1	0	15	6					T	29821543	A	T	29821543	3	4	5	1	0	0	0	0	1	0	0	0	9349	40	2	4	1650	4	MAZ	16	29821543	Missense_Mutation	SNP	A	TCGA-N5-A4RJ-01A-11D-A28R-08		29821543	60533210	43	319										
VPS53	55275	broad.mit.edu	37	chr17	556625	556625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	aaggagattagcaacttctcCgtattgtcttcgcctggtca	9	10	3	1			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:556625C>T	ENST00000571805.1	-	7	650	c.514G>A	c.(514-516)Gga>Aga	p.G172R	VPS53_ENST00000401468.3_Intron|VPS53_ENST00000576149.1_Intron|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.G143R|VPS53_ENST00000437048.2_Missense_Mutation_p.G172R			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	172					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCAACTTCTCCGTATTGTCTT	0.458																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(514-516)Gga>Aga		vacuolar protein sorting 53 homolog (S. cerevisiae)							132	125	127					17																	556625		2203	4300	6503	SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:556625C>T		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.514G>A	17.37:g.556625C>T	ENSP00000459312:p.Gly172Arg		Somatic				VPS53_ENST00000574029.1_Intron|VPS53_ENST00000571805.1_Missense_Mutation_p.G172R|VPS53_ENST00000291074.5_Missense_Mutation_p.G143R|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000576149.1_Intron	p.G172R	NM_001128159.2	NP_001121631.1	WXS	Illumina GAIIx	Phase_I	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	7	660	-			172					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.514G>A		.	.	.	.	.	.	.	.	.	.	C	23.3	4.397110	0.83120	.	.	ENSG00000141252	ENST00000437048;ENST00000291074;ENST00000389040	T;T;T	0.32515	1.45;1.45;1.45	5.76	5.76	0.90799	Vps53-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	L	0.37561	1.115	0.80722	D	1	D;D;P	0.55605	0.972;0.959;0.886	P;B;B	0.45138	0.471;0.444;0.347	T	0.04005	-1.0985	10	0.62326	D	0.03	-21.5699	18.8872	0.92383	0.0:1.0:0.0:0.0	.	172;172;143	Q5VIR6-4;Q5VIR6;Q5VIR6-2	.;VPS53_HUMAN;.	R	172;143;172	ENSP00000401435:G172R;ENSP00000291074:G143R;ENSP00000373692:G172R	ENSP00000291074:G143R	G	-	1	0	VPS53	503375	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.498000	0.66931	2.882000	0.98803	0.655000	0.94253	GGA		0.458	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		21	26	0	0	0	1	0	21	26					T	556625	C	T	556625	3	4	5	1	0	0	0	0	1	0	0	0	17230	661	23	1	2063	1	VPS53	17	556625	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08		556625	80638585	44	320										
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	p.R175H	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	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	7	0	0	0	1	0	38	7					T	7578406	C	T	7578406	3	4	5	1	0	0	0	0	1	0	0	0	16396	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	7021781	7578406	73616804	45	321										
DHRS7C	201140	broad.mit.edu	37	chr17	9676126	9676126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	gtttccttgctctggatacaCgtggtacgaccggatgaaag	12	9	1	1			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:9676126C>T	ENST00000330255.5	-	5	700	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	DHRS7C_ENST00000571134.1_Missense_Mutation_p.V229M	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	230					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						TCTGGATACACGTGGTACGAC	0.582																																						ENST00000330255.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						c.(688-690)Gtg>Atg		dehydrogenase/reductase (SDR family) member 7C							72	80	77					17																	9676126		2183	4292	6475	SO:0001583	missense	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9676126C>T		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.688G>A	17.37:g.9676126C>T	ENSP00000327975:p.Val230Met		Somatic				DHRS7C_ENST00000571134.1_Missense_Mutation_p.V229M	p.V230M	NM_001220493.1	NP_001207422.1	WXS	Illumina GAIIx	Phase_I	A6NNS2	DRS7C_HUMAN			5	700	-			230					B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	c.688G>A	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	C	3.410	-0.120404	0.06838	.	.	ENSG00000184544	ENST00000330255	T	0.52295	0.67	4.92	-1.24	0.09435	NAD(P)-binding domain (1);	1.265410	0.05577	N	0.572175	T	0.30166	0.0756	N	0.22421	0.69	0.09310	N	1	B;B	0.15719	0.014;0.003	B;B	0.09377	0.004;0.004	T	0.24693	-1.0153	10	0.48119	T	0.1	.	3.4121	0.07363	0.1216:0.5217:0.1194:0.2373	.	230;226	A6NNS2;B9EJH3	DRS7C_HUMAN;.	M	230	ENSP00000327975:V230M	ENSP00000327975:V230M	V	-	1	0	DHRS7C	9616851	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.355000	0.07671	-0.020000	0.14032	0.655000	0.94253	GTG		0.582	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		32	7	0	0	0	1	0	32	7					T	9676126	C	T	9676126	3	4	5	1	0	0	0	0	1	0	0	0	4499	536	19	1	258	1	DHRS7C	17	9676126	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	2097720	9676126	71519084	46	322										
DNAH9	1770	broad.mit.edu	37	chr17	11711183	11711183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	tgtcttccagatcacactgcGcaaaggctaccagatccagg	9	13	2	2	rs146734343		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:11711183G>A	ENST00000262442.4	+	44	8623	c.8555G>A	c.(8554-8556)cGc>cAc	p.R2852H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2852H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2852	AAA 4. {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)		ATCACACTGCGCAAAGGCTAC	0.557																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(8554-8556)cGc>cAc		dynein, axonemal, heavy chain 9		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	66	59	61		8555	5.2	1	17	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DNAH9	NM_001372.3	29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	2852/4487	11711183	3,13003	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.chr17:11711183G>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.8555G>A	17.37:g.11711183G>A	ENSP00000262442:p.Arg2852His		Somatic				DNAH9_ENST00000454412.2_Missense_Mutation_p.R2852H	p.R2852H	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)	44	8623	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2852			AAA 4 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.8555G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332538	0.81801	4.54E-4	1.16E-4	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.51817	0.69;0.69	5.2	5.2	0.72013	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.116119	0.56097	D	0.000022	T	0.67211	0.2869	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.67031	-0.5773	10	0.46703	T	0.11	.	18.8224	0.92103	0.0:0.0:1.0:0.0	.	2852	Q9NYC9	DYH9_HUMAN	H	2852;2852;1434	ENSP00000262442:R2852H;ENSP00000414874:R2852H	ENSP00000262442:R2852H	R	+	2	0	DNAH9	11651908	1.000000	0.71417	0.986000	0.45419	0.952000	0.60782	3.458000	0.53014	2.436000	0.82500	0.650000	0.86243	CGC		0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		3	32	0	0	0	1	0	3	32					A	11711183	G	A	11711183	3	1	5	1	0	0	0	0	1	0	0	0	4610	1087	38	1	8729	1	DNAH9	17	11711183	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	2035057	11711183	69484027	47	323										
ALDH3A1	218	broad.mit.edu	37	chr17	19642904	19642904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	ggcctcctccaggctgcgcaCgcacacgatgggcagcacag	13	16	0	0			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:19642904C>T	ENST00000457500.2	-	7	1362	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.V345M|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.V345M|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.V281M|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.V272M	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	345					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		AGGCTGCGCACGCACACGATG	0.632																																						ENST00000457500.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(1033-1035)Gtg>Atg		aldehyde dehydrogenase 3 family, member A1	NADH(DB00157)						82	65	71					17																	19642904		2203	4300	6503	SO:0001583	missense	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19642904C>T	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"Aldehyde dehydrogenases"	405	protein-coding gene	gene with protein product	"aldehyde dehydrogenase, dimeric NADP-preferring"	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.1033G>A	17.37:g.19642904C>T	ENSP00000411821:p.Val345Met		Somatic				ALDH3A1_ENST00000494157.2_Missense_Mutation_p.V272M|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.V345M|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.V281M|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.V345M	p.V345M	NM_001135168.1	NP_001128640.1	WXS	Illumina GAIIx	Phase_I	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	7	1362	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		345					A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	c.1033G>A	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424340	0.83667	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	T;D;T;T;T	0.86366	-1.18;-2.11;-1.18;-1.18;-1.18	4.82	3.86	0.44501	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.94788	0.8317	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	0.957;1.0;0.957	P;D;P	0.83275	0.658;0.996;0.658	D	0.95228	0.8340	10	0.72032	D	0.01	-14.2153	12.3359	0.55067	0.0:0.9175:0.0:0.0825	.	345;462;345	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	M	345;281;403;345;345;272;345	ENSP00000225740:V345M;ENSP00000378923:V281M;ENSP00000388469:V345M;ENSP00000411821:V345M;ENSP00000389766:V345M	ENSP00000225740:V345M	V	-	1	0	ALDH3A1	19583496	0.997000	0.39634	0.988000	0.46212	0.987000	0.75469	3.711000	0.54868	1.035000	0.39972	-0.137000	0.14449	GTG		0.632	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		9	19	0	0	0	1	0	9	19					T	19642904	C	T	19642904	3	4	5	1	0	0	0	0	1	0	0	0	497	536	19	1	344	1	ALDH3A1	17	19642904	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	7931721	19642904	61552306	48	324										
CCL1	6346	broad.mit.edu	37	chr17	32687649	32687649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	ccatccaactgtgtccaaggCgcaggcctctttgcctctct	8	16	2	0			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:32687649C>T	ENST00000225842.3	-	3	289	c.220G>A	c.(220-222)Gcc>Acc	p.A74T		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	74					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GTGTCCAAGGCGCAGGCCTCT	0.522																																						ENST00000225842.3																			0											c.(220-222)Gcc>Acc		chemokine (C-C motif) ligand 1							115	109	111					17																	32687649		2203	4300	6503	SO:0001583	missense	6346				cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity	g.chr17:32687649C>T	M57506	CCDS11282.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108702	ENSG00000108702		"Endogenous ligands"	10609	protein-coding gene	gene with protein product	"inflammatory cytokine I-309", "T lymphocyte-secreted protein I-309"	182281	"small inducible cytokine A1 (I-309, homologous to mouse Tca-3)"	SCYA1		2212659, 10409433	Standard	NM_002981		Approved	I-309, TCA3, P500, SISe	uc002hid.1	P22362	OTTHUMG00000132888	ENST00000225842.3:c.220G>A	17.37:g.32687649C>T	ENSP00000225842:p.Ala74Thr		Somatic					p.A74T	NM_002981.1	NP_002972.1	WXS	Illumina GAIIx	Phase_I	P22362	CCL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)	3	289	-		Ovarian(249;0.0443)|Breast(31;0.133)	74					B2R5G9|Q2M309	Missense_Mutation	SNP	ENST00000225842.3	37	c.220G>A	CCDS11282.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444285	0.63178	.	.	ENSG00000108702	ENST00000225842	T	0.07327	3.2	4.38	4.38	0.52667	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.594257	0.15696	N	0.249176	T	0.22166	0.0534	.	.	.	0.19575	N	0.999966	D	0.76494	0.999	D	0.65773	0.938	T	0.01899	-1.1251	9	0.41790	T	0.15	-6.7211	12.7477	0.57289	0.0:1.0:0.0:0.0	.	74	P22362	CCL1_HUMAN	T	74	ENSP00000225842:A74T	ENSP00000225842:A74T	A	-	1	0	CCL1	29711762	0.618000	0.27051	0.233000	0.24025	0.003000	0.03518	2.932000	0.48940	2.719000	0.93026	0.555000	0.69702	GCC		0.522	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256385.2	NM_002981		56	89	0	0	0	1	0	56	89					T	32687649	C	T	32687649	3	4	5	1	0	0	0	0	1	0	0	0	2884	768	27	1	74	1	CCL1	17	32687649	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	13044745	32687649	48507561	49	325										
RASL10B	91608	broad.mit.edu	37	chr17	34062267	34062267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	tgggcaagagtgccatcgtgCgccagttcttgtacaacgag	13	10	1	1			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:34062267C>T	ENST00000268864.3	+	2	441	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	22	Small GTPase-like.				GTP catabolic process (GO:0006184)|positive regulation of peptide hormone secretion (GO:0090277)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCCATCGTGCGCCAGTTCTT	0.672																																						ENST00000268864.3																			0				breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(64-66)Cgc>Tgc		RAS-like, family 10, member B							93	78	83					17																	34062267		2203	4300	6503	SO:0001583	missense	91608				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr17:34062267C>T	BC041133	CCDS11297.1	17q21.1	2014-05-09			ENSG00000141150	ENSG00000270885			30295	protein-coding gene	gene with protein product		612128				12477932	Standard	NM_033315		Approved	VTS58635, RRP17	uc002hju.3	Q96S79	OTTHUMG00000188385	ENST00000268864.3:c.64C>T	17.37:g.34062267C>T	ENSP00000268864:p.Arg22Cys		Somatic					p.R22C	NM_033315.3	NP_201572.1	WXS	Illumina GAIIx	Phase_I	Q96S79	RSLAB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	441	+			22			Small GTPase-like.		B3KV31	Missense_Mutation	SNP	ENST00000268864.3	37	c.64C>T	CCDS11297.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194648	0.78902	.	.	ENSG00000141150	ENST00000268864	T	0.80304	-1.36	3.98	3.98	0.46160	.	0.000000	0.43260	D	0.000600	D	0.87834	0.6277	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.88836	0.3309	10	0.66056	D	0.02	.	12.1302	0.53938	0.1713:0.8287:0.0:0.0	.	22	Q96S79	RSLAB_HUMAN	C	22	ENSP00000268864:R22C	ENSP00000268864:R22C	R	+	1	0	RASL10B	31086380	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.523000	0.67099	2.060000	0.61445	0.462000	0.41574	CGC		0.672	RASL10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256498.2	NM_033315		31	42	0	0	0	1	0	31	42					T	34062267	C	T	34062267	3	4	5	1	0	0	0	0	1	0	0	0	13095	768	27	1	66	1	RASL10B	17	34062267	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	1374618	34062267	47132943	50	326										
ERBB2	2064	broad.mit.edu	37	chr17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	acctggaggatgtgcggctcGtacacagggacttggccgct	15	11	0	0			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:37881332G>A	ENST00000269571.5	+	21	2683	c.2524G>A	c.(2524-2526)Gta>Ata	p.V842I	MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000406381.2_Missense_Mutation_p.V812I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	842	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)	p.V842I(6)		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)	TGTGCGGCTCGTACACAGGGA	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"		6	Substitution - Missense(6)	p.V842I(6)	large_intestine(5)|stomach(1)	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.(2434-2436)Gta>Ata		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						70	61	64					17																	37881332		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37881332G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2524G>A	17.37:g.37881332G>A	ENSP00000269571:p.Val842Ile	TCGA GBM(5;<1E-08)	Somatic				ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000269571.5_Missense_Mutation_p.V842I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I	p.V812I	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)	23	2944	+	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)	842			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2434G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241303	0.58995	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.09	5.09	0.68999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.85106	0.5621	N	0.21142	0.635	0.80722	D	1	D;D;D	0.76494	0.997;0.979;0.999	D;P;D	0.64506	0.92;0.559;0.926	D	0.87344	0.2333	9	0.87932	D	0	.	18.2846	0.90110	0.0:0.0:1.0:0.0	.	566;827;842	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	I	812;827;566;842;812	ENSP00000385185:V812I;ENSP00000446466:V827I;ENSP00000404047:V566I;ENSP00000269571:V842I;ENSP00000443562:V812I	ENSP00000269571:V842I	V	+	1	0	ERBB2	35134858	1.000000	0.71417	0.919000	0.36401	0.900000	0.52787	9.657000	0.98554	2.651000	0.90000	0.563000	0.77884	GTA		0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			43	57	0	0	0	1	0	43	57					A	37881332	G	A	37881332	3	1	5	1	0	0	0	0	1	0	0	0	5208	1145	40	1	2606	1	ERBB2	17	37881332	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	3819065	37881332	43313878	51	327										
DHX58	79132	broad.mit.edu	37	chr17	40253875	40253875	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	cgggaccactttttggcctgGatccgcccctgaggggtctc	13	14	1	1			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:40253875G>C	ENST00000251642.3	-	14	2163	c.1941C>G	c.(1939-1941)atC>atG	p.I647M		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	647	RNA-binding.|Repressor domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTTTGGCCTGGATCCGCCCCT	0.592											OREG0024418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1939-1941)atC>atG		DEXH (Asp-Glu-X-His) box polypeptide 58							61	58	59					17																	40253875		2203	4300	6503	SO:0001583	missense	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40253875G>C	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"RNA helicase LGP2"	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1941C>G	17.37:g.40253875G>C	ENSP00000251642:p.Ile647Met		Somatic	OREG0024418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	892		p.I647M	NM_024119.2	NP_077024.2	WXS	Illumina GAIIx	Phase_I	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	14	2163	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	647			RNA-binding.		Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	c.1941C>G	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.374392	0.24857	.	.	ENSG00000108771	ENST00000251642	T	0.41400	1.0	5.15	-4.26	0.03755	C-terminal domain of RIG-I (1);	1.501880	0.03897	N	0.279659	T	0.21590	0.0520	N	0.16368	0.405	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.13045	-1.0524	10	0.38643	T	0.18	.	0.579	0.00709	0.2195:0.2288:0.2895:0.2623	.	647	Q96C10	DHX58_HUMAN	M	647	ENSP00000251642:I647M	ENSP00000251642:I647M	I	-	3	3	DHX58	37507401	0.000000	0.05858	0.643000	0.29450	0.927000	0.56198	-0.703000	0.05063	-0.287000	0.09064	-1.288000	0.01363	ATC		0.592	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		11	60	0	0	0	1	0	11	60					C	40253875	G	C	40253875	3	2	5	1	0	0	0	0	1	0	0	0	4516	1164	41	2	99	2	DHX58	17	40253875	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	2372543	40253875	40941335	52	328										
RNF213	57674	broad.mit.edu	37	chr17	78346514	78346514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	cagagctgcagatttcctctCggagcctgagggaggcccag	14	12	1	3			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:78346514C>T	ENST00000582970.1	+	48	12874	c.12731C>T	c.(12730-12732)tCg>tTg	p.S4244L	RNF213_ENST00000336301.6_Missense_Mutation_p.S2317L|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.S4293L|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4244					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)			GATTTCCTCTCGGAGCCTGAG	0.557																																						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.(12730-12732)tCg>tTg		ring finger protein 213							28	27	27					17																	78346514		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78346514C>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.12731C>T	17.37:g.78346514C>T	ENSP00000464087:p.Ser4244Leu		Somatic				CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.S4293L|RNF213_ENST00000336301.6_Missense_Mutation_p.S2317L|CTD-2047H16.4_ENST00000575034.1_RNA	p.S4244L	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)		48	12874	+	all_neural(118;0.0538)		280					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.12731C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	6.845	0.525067	0.13066	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.22539	1.95	5.29	-1.07	0.09968	.	1.516220	0.03586	N	0.231081	T	0.15046	0.0363	M	0.65975	2.015	0.09310	N	1	B;P	0.36412	0.025;0.552	B;B	0.24701	0.011;0.055	T	0.17531	-1.0366	10	0.11794	T	0.64	.	0.1899	0.00133	0.2496:0.2327:0.2503:0.2674	.	4293;2317	C9JCP4;Q63HN8	.;RN213_HUMAN	L	4244;4293;2317	ENSP00000338218:S2317L	ENSP00000338218:S2317L	S	+	2	0	RNF213	75961109	0.056000	0.20664	0.000000	0.03702	0.012000	0.07955	0.584000	0.23864	-0.418000	0.07450	0.655000	0.94253	TCG		0.557	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		23	26	0	0	0	1	0	23	26					T	78346514	C	T	78346514	3	4	5	1	0	0	0	0	1	0	0	0	13492	893	31	1	13236	1	RNF213	17	78346514	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	38092639	78346514	2848696	53	329										
FAM108A1	81926	broad.mit.edu	37	chr19	1877579	1877579	+	Frame_Shift_Del	DEL	G	G	-													0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	gcatgcccgaggtgagcggcGagtgcagcaccaccgcggca							TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:1877579delG	ENST00000292577.7	-	4	1068	c.635delC	c.(634-636)tcgfs	p.S212fs	ABHD17A_ENST00000590661.1_Frame_Shift_Del_p.R182fs|ABHD17A_ENST00000250974.9_Frame_Shift_Del_p.S263fs|CTB-31O20.2_ENST00000565797.1_lincRNA|CTB-31O20.9_ENST00000592720.1_lincRNA	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	212						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GGTGAGCGGCGAGTGCAGCAC	0.692																																						ENST00000292577.7																			0											c.(634-636)tgfs		abhydrolase domain containing 17A			,	17,4059		1,15,2022	11	14	13		,	-8.5	0.7	19		13	21,7893		1,19,3937	no	frameshift,frameshift	FAM108A1	NM_031213.3,NM_001130111.1	,	2,34,5959	A1A1,A1R,RR		0.2654,0.4171,0.3169	,	,	1877579	38,11952	2125	4131	6256	SO:0001589	frameshift_variant	81926							g.chr19:1877579delG	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.635delC	19.37:g.1877579delG	ENSP00000292577:p.Ser212fs		Somatic				ABHD17A_ENST00000250974.9_Frame_Shift_Del_p.S263fs|ABHD17A_ENST00000590661.1_Frame_Shift_Del_p.R182fs	p.S212fs	NM_001130111.1	NP_001123583.1	WXS	Illumina GAIIx	Phase_I					4	1068	-								A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Frame_Shift_Del	DEL	ENST00000292577.7	37	c.635delC	CCDS45902.1																																																																																				0.692	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		7	37						7	37	---	---	---	---	-	1877579	G	-	1877579	7	5	5	1	0	1	0	1	0	0	0	0	5396	1059	37	0	305	0	FAM108A1	19	1877579	Frame_Shift_Del	DEL	G	TCGA-N5-A4RJ-01A-11D-A28R-08		1877579	57251404	54	330										
SMARCA4	6597	broad.mit.edu	37	chr19	11170774	11170774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	ggaaggagaaggcacaggacCggctgaagggcggccggcgg	21	9	0	2			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:11170774C>T	ENST00000429416.3	+	35	5103	c.4822C>T	c.(4822-4824)Cgg>Tgg	p.R1608W	SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1608W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1575W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1640W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1578W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1577W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1574W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1577W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1578W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1608					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|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 transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCACAGGACCGGCTGAAGGG	0.652			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(4918-4920)Cgg>Tgg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							14	14	14					19																	11170774		2080	4058	6138	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11170774C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4822C>T	19.37:g.11170774C>T	ENSP00000395654:p.Arg1608Trp		Somatic				SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1608W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1578W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1608W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1574W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1578W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1577W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1575W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1577W	p.R1640W	NM_001128849.1	NP_001122321.1	WXS	Illumina GAIIx	Phase_I	P51532	SMCA4_HUMAN			35	5202	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1608					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.4918C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707480	0.68615	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D	0.87412	-2.25;-2.24;-2.25;-2.24;-2.24;-2.24	4.57	1.11	0.20524	.	0.135317	0.45606	D	0.000350	D	0.83280	0.5220	N	0.22421	0.69	0.30570	N	0.763592	D;D;D;B;D;D	0.76494	0.998;0.999;0.998;0.037;0.998;0.999	P;P;P;B;P;P	0.57425	0.739;0.82;0.739;0.002;0.739;0.82	T	0.79764	-0.1666	10	0.66056	D	0.02	-34.9469	6.8408	0.23961	0.4418:0.4756:0.0:0.0826	.	1577;1574;1575;1640;1578;1608	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;P51532	.;.;.;.;.;SMCA4_HUMAN	W	1608;1640;1642;1608;1575;1574;1577;1578	ENSP00000395654:R1608W;ENSP00000350720:R1640W;ENSP00000343896:R1608W;ENSP00000392837:R1574W;ENSP00000397783:R1577W;ENSP00000414727:R1578W	ENSP00000343896:R1608W	R	+	1	2	SMARCA4	11031774	0.023000	0.18921	0.039000	0.18376	0.977000	0.68977	0.258000	0.18387	0.151000	0.19162	0.561000	0.74099	CGG		0.652	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		3	7	0	0	0	1	0	3	7					T	11170774	C	T	11170774	3	4	5	1	0	0	0	0	1	0	0	0	14785	643	23	1	5061	1	SMARCA4	19	11170774	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	9293195	11170774	47958209	55	331										
OR1I1	126370	broad.mit.edu	37	chr19	15198440	15198440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	atgcccctgctgaagctctcCggctcagacacgcacaccaa	8	17	2	2	rs147792989	byFrequency	TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:15198440C>T	ENST00000209540.2	+	1	650	c.564C>T	c.(562-564)tcC>tcT	p.S188S		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S188S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						TGAAGCTCTCCGGCTCAGACA	0.547													C|||	15	0.00299521	0.0113	0	5008	,	,		22376	0		0	False		,,,				2504	0					ENST00000209540.2																			1	Substitution - coding silent(1)	p.S188S(1)	large_intestine(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						c.(562-564)tcC>tcT		olfactory receptor, family 1, subfamily I, member 1		C		17,4389	24.3+/-50.5	0,17,2186	117	104	108		564	4.8	1	19	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	OR1I1	NM_001004713.1		0,17,6486	TT,TC,CC		0.0,0.3858,0.1307		188/356	15198440	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	126370				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15198440C>T	AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"GPCR / Class A : Olfactory receptors"	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.564C>T	19.37:g.15198440C>T			Somatic					p.S188S	NM_001004713.1	NP_001004713.1	WXS	Illumina GAIIx	Phase_I	O60431	OR1I1_HUMAN			1	650	+			188					Q96R92	Silent	SNP	ENST00000209540.2	37	c.564C>T	CCDS32937.1																																																																																				0.547	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1			50	36	0	0	0	1	0	50	36					T	15198440	C	T	15198440	2	4	5	1	0	0	0	0	0	0	0	1	10967	639	23	1		1	OR1I1	19	15198440	Silent	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	4027666	15198440	43930543	56	332										
SNRPA	6626	broad.mit.edu	37	chr19	41265493	41265493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	gggagccacccccgtggtggGggctgtccaggggcctgtcc	18	14	0	0			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:41265493G>A	ENST00000243563.3	+	3	954	c.404G>A	c.(403-405)gGg>gAg	p.G135E	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	135					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)			CCCGTGGTGGGGGCTGTCCAG	0.682																																						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.(403-405)gGg>gAg		small nuclear ribonucleoprotein polypeptide A							22	23	23					19																	41265493		2202	4297	6499	SO:0001583	missense	6626					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:41265493G>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.404G>A	19.37:g.41265493G>A	ENSP00000243563:p.Gly135Glu		Somatic				SNRPA_ENST00000599570.1_3'UTR	p.G135E	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)		3	954	+			135						Missense_Mutation	SNP	ENST00000243563.3	37	c.404G>A	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	G	9.555	1.117018	0.20795	.	.	ENSG00000077312	ENST00000243563;ENST00000545469	T	0.24151	1.87	5.7	4.64	0.57946	.	0.227413	0.44097	D	0.000500	T	0.12135	0.0295	N	0.08118	0	0.31557	N	0.657986	B	0.26512	0.151	B	0.23018	0.043	T	0.10451	-1.0629	10	0.17369	T	0.5	-34.5328	11.6798	0.51451	0.0:0.2772:0.7228:0.0	.	135	P09012	SNRPA_HUMAN	E	135;56	ENSP00000243563:G135E	ENSP00000243563:G135E	G	+	2	0	SNRPA	45957333	0.312000	0.24545	0.771000	0.31576	0.014000	0.08584	1.605000	0.36815	2.687000	0.91594	0.655000	0.94253	GGG		0.682	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596		31	25	0	0	0	1	0	31	25					A	41265493	G	A	41265493	3	1	5	1	0	0	0	0	1	0	0	0	14874	1232	43	3	414	3	SNRPA	19	41265493	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	26067053	41265493	17863490	57	333										
SYMPK	8189	broad.mit.edu	37	chr19	46329516	46329516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	cagctccaaacagcacagacGgtgggttggggtgcaccagg	15	11	0	1			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:46329516G>A	ENST00000245934.7	-	17	2541	c.2297C>T	c.(2296-2298)cCg>cTg	p.P766L	SYMPK_ENST00000598155.1_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	766					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)		CAGCACAGACGGTGGGTTGGG	0.572																																						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.(2296-2298)cCg>cTg		symplekin							113	83	93					19																	46329516		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46329516G>A	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.2297C>T	19.37:g.46329516G>A	ENSP00000245934:p.Pro766Leu		Somatic					p.P766L	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)	17	2541	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	766					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.2297C>T	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986419	0.53934	.	.	ENSG00000125755	ENST00000245934	T	0.30448	1.53	4.17	4.17	0.49024	Armadillo-like helical (1);Armadillo-type fold (1);	0.117435	0.64402	D	0.000017	T	0.52191	0.1719	M	0.83223	2.63	0.80722	D	1	D;P	0.76494	0.999;0.494	P;B	0.57101	0.813;0.098	T	0.61978	-0.6951	10	0.87932	D	0	.	14.4226	0.67193	0.0:0.0:1.0:0.0	.	781;766	Q4LE61;Q92797	.;SYMPK_HUMAN	L	766	ENSP00000245934:P766L	ENSP00000245934:P766L	P	-	2	0	SYMPK	51021356	1.000000	0.71417	0.538000	0.28064	0.728000	0.41692	8.940000	0.92958	2.339000	0.79563	0.555000	0.69702	CCG		0.572	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		6	17	0	0	0	1	0	6	17					A	46329516	G	A	46329516	3	1	5	1	0	0	0	0	1	0	0	0	15454	1116	39	1	1571	1	SYMPK	19	46329516	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	5064023	46329516	12799467	58	334										
MZF1	7593	broad.mit.edu	37	chr19	59074376	59074376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	gctcttccaggcgcgcgctgCgcacgaagccctggccacag	13	17	1	0			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:59074376C>A	ENST00000215057.2	-	6	1828	c.1268G>T	c.(1267-1269)cGc>cTc	p.R423L	MZF1_ENST00000594234.1_3'UTR|MZF1_ENST00000599369.1_Missense_Mutation_p.R423L|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	423					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	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)|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(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCGCGCGCTGCGCACGAAGCC	0.687																																						ENST00000215057.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1267-1269)cGc>cTc		myeloid zinc finger 1							15	17	16					19																	59074376		2179	4253	6432	SO:0001583	missense	7593				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:59074376C>A	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1268G>T	19.37:g.59074376C>A	ENSP00000215057:p.Arg423Leu		Somatic				MZF1_ENST00000599369.1_Missense_Mutation_p.R423L|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA	p.R423L	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	WXS	Illumina GAIIx	Phase_I	P28698	MZF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	6	1828	-		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)	423					M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	37	c.1268G>T	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	.	16.09	3.024012	0.54683	.	.	ENSG00000099326	ENST00000215057	T	0.06218	3.33	3.45	1.33	0.21861	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.381620	0.19432	N	0.114401	T	0.05960	0.0155	L	0.48642	1.525	0.09310	N	0.999994	P	0.35527	0.507	B	0.34180	0.177	T	0.28839	-1.0031	10	0.45353	T	0.12	-28.9067	7.0205	0.24912	0.0:0.7642:0.0:0.2358	.	423	P28698	MZF1_HUMAN	L	423	ENSP00000215057:R423L	ENSP00000215057:R423L	R	-	2	0	MZF1	63766188	0.000000	0.05858	0.778000	0.31720	0.963000	0.63663	-0.382000	0.07408	0.451000	0.26802	0.460000	0.39030	CGC		0.687	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		18	48	1	0	1.01871e-10	1	1.15537e-10	18	48					A	59074376	C	A	59074376	3	1	5	1	0	0	0	0	1	0	0	0	10117	768	27	5	940	5	MZF1	19	59074376	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	12744860	59074376	54607	59	335										
MZF1	7593	broad.mit.edu	37	chr19	59074528	59074528	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	gtgtggatcttctggtgcctCagcaggttgctgcgttggct	15	9	3	0			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:59074528C>T	ENST00000215057.2	-	6	1676	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	MZF1_ENST00000594234.1_Silent_p.*291*|MZF1_ENST00000599369.1_Silent_p.L372L|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	372					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	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)|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(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TCTGGTGCCTCAGCAGGTTGC	0.687																																						ENST00000215057.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1114-1116)ctG>ctA		myeloid zinc finger 1							27	24	25					19																	59074528		2195	4296	6491	SO:0001819	synonymous_variant	7593				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:59074528C>T	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1116G>A	19.37:g.59074528C>T			Somatic				MZF1_ENST00000599369.1_Silent_p.L372L|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_Silent_p.*291*|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA	p.L372L	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	WXS	Illumina GAIIx	Phase_I	P28698	MZF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	6	1676	-		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)	372					M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Silent	SNP	ENST00000215057.2	37	c.1116G>A	CCDS12988.1																																																																																				0.687	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		22	43	0	0	0	1	0	22	43					T	59074528	C	T	59074528	2	4	5	1	0	0	0	0	0	0	0	1	10117	813	29	3		3	MZF1	19	59074528	Silent	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	152	59074528	54455	60	336										
ARFRP1	10139	broad.mit.edu	37	chr20	62331872	62331872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	catccactcgatgccctcgcGcacccctttgctgtgaagac	8	17	0	2	rs367735078		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr20:62331872G>A	ENST00000359715.5	-	7	1095	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	ARFRP1_ENST00000324228.2_Missense_Mutation_p.R177C|ARFRP1_ENST00000485858.1_5'UTR|ARFRP1_ENST00000609142.1_3'UTR|ARFRP1_ENST00000440854.1_3'UTR|ARFRP1_ENST00000607873.1_Missense_Mutation_p.R130C			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	177					gastrulation (GO:0007369)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			ATGCCCTCGCGCACCCCTTTG	0.697																																						ENST00000359715.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						c.(529-531)Cgc>Tgc		ADP-ribosylation factor related protein 1		G	,CYS/ARG	1,4401		0,1,2200	45	44	44		,529	4.3	0.7	20		44	0,8588		0,0,4294	no	utr-3,missense	ARFRP1	NM_001134758.1,NM_003224.3	,180	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,possibly-damaging	,177/202	62331872	1,12989	2201	4294	6495	SO:0001583	missense	10139				small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity	g.chr20:62331872G>A	X91504	CCDS13533.1, CCDS46630.1, CCDS68172.1, CCDS68173.1	20q13.3	2014-05-09			ENSG00000101246	ENSG00000101246		"ADP-ribosylation factors"	662	protein-coding gene	gene with protein product		604699				8530503	Standard	NM_003224		Approved	ARP, Arp1, ARL18	uc031rup.1	Q13795	OTTHUMG00000032993	ENST00000359715.5:c.529C>T	20.37:g.62331872G>A	ENSP00000352746:p.Arg177Cys		Somatic				ARFRP1_ENST00000485858.1_5'UTR|ARFRP1_ENST00000324228.2_Missense_Mutation_p.R177C|ARFRP1_ENST00000440854.1_3'UTR	p.R177C			WXS	Illumina GAIIx	Phase_I	Q13795	ARFRP_HUMAN	Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)		7	1095	-	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		177					B7ZKX7|E1P5J9|Q6IBQ0	Missense_Mutation	SNP	ENST00000359715.5	37	c.529C>T	CCDS13533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.187958|4.187958	0.78789|0.78789	2.27E-4|2.27E-4	0.0|0.0	ENSG00000101246|ENSG00000101246	ENST00000217224|ENST00000359715;ENST00000324228	.|D;D	.|0.82711	.|-1.64;-1.64	5.3|5.3	4.3|4.3	0.51218|0.51218	.|Small GTP-binding protein domain (1);	.|0.413473	.|0.27861	.|N	.|0.017551	D|D	0.82287|0.82287	0.5004|0.5004	L|L	0.39147|0.39147	1.195|1.195	0.80722|0.80722	D|D	1|1	.|D	.|0.53462	.|0.96	.|P	.|0.53185	.|0.72	T|T	0.82242|0.82242	-0.0554|-0.0554	5|10	.|0.56958	.|D	.|0.05	-36.2293|-36.2293	10.6878|10.6878	0.45854|0.45854	0.0:0.0:0.4045:0.5955|0.0:0.0:0.4045:0.5955	.|.	.|177	.|Q13795	.|ARFRP_HUMAN	V|C	104|177	.|ENSP00000352746:R177C;ENSP00000326884:R177C	.|ENSP00000326884:R177C	A|R	-|-	2|1	0|0	ARFRP1|ARFRP1	61802316|61802316	1.000000|1.000000	0.71417|0.71417	0.696000|0.696000	0.30242|0.30242	0.798000|0.798000	0.45092|0.45092	3.959000|3.959000	0.56744|0.56744	1.144000|1.144000	0.42321|0.42321	0.462000|0.462000	0.41574|0.41574	GCG|CGC		0.697	ARFRP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472024.1			12	184	0	0	0	1	0	12	184					A	62331872	G	A	62331872	3	1	5	1	0	0	0	0	1	0	0	0	856	1087	38	1	80	1	ARFRP1	20	62331872	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08		62331872	693648	61	337										
GAB4	128954	broad.mit.edu	37	chr22	17488843	17488843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	ccactcacaaagagcctcagCttcttctcggggggcgactt	10	14	4	1			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:17488843C>T	ENST00000400588.1	-	1	269	c.162G>A	c.(160-162)aaG>aaA	p.K54K	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	54	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AGAGCCTCAGCTTCTTCTCGG	0.697																																						ENST00000400588.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(160-162)aaG>aaA		GRB2-associated binding protein family, member 4							16	21	20					22																	17488843		2096	4231	6327	SO:0001819	synonymous_variant	128954							g.chr22:17488843C>T	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.162G>A	22.37:g.17488843C>T			Somatic				GAB4_ENST00000523144.1_5'UTR	p.K54K	NM_001037814.1	NP_001032903.1	WXS	Illumina GAIIx	Phase_I	Q2WGN9	GAB4_HUMAN			1	269	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	54			PH.			Silent	SNP	ENST00000400588.1	37	c.162G>A	CCDS42976.1																																																																																				0.697	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		8	13	0	0	0	1	0	8	13					T	17488843	C	T	17488843	2	4	5	1	0	0	0	0	0	0	0	1	6159	796	28	3		3	GAB4	22	17488843	Silent	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08		17488843	33815723	62	338										
NEFH	4744	broad.mit.edu	37	chr22	29879422	29879422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	acagacgctatgcgctcagcGcaggaggagataactgagta	13	9	1	3			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:29879422G>A	ENST00000310624.6	+	2	975	c.942G>A	c.(940-942)gcG>gcA	p.A314A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	314	Coil 2B.|Rod.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TGCGCTCAGCGCAGGAGGAGA	0.612																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(940-942)gcG>gcA		neurofilament, heavy polypeptide							144	136	139					22																	29879422		2203	4300	6503	SO:0001819	synonymous_variant	4744				cell death|nervous system development	neurofilament		g.chr22:29879422G>A		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.942G>A	22.37:g.29879422G>A			Somatic					p.A314A	NM_021076.3	NP_066554.2	WXS	Illumina GAIIx	Phase_I	P12036	NFH_HUMAN			2	975	+			314			Coil 2B.|Rod.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	c.942G>A	CCDS13858.1																																																																																				0.612	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		49	152	0	0	0	1	0	49	152					A	29879422	G	A	29879422	2	1	5	1	0	0	0	0	0	0	0	1	10323	1074	38	1		1	NEFH	22	29879422	Silent	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	12390579	29879422	21425144	63	339										
C22orf28	51493	broad.mit.edu	37	chr22	32784075	32784075	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	acatctgtcacattcttataGgactcaggagcctgcaggag	10	10	4	0			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:32784075G>T	ENST00000216038.5	-	12	1520	c.1422C>A	c.(1420-1422)tcC>tcA	p.S474S	RTCB_ENST00000451746.2_3'UTR|RP1-149A16.17_ENST00000444848.1_lincRNA	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		CATTCTTATAGGACTCAGGAG	0.403																																						ENST00000216038.5																			0											c.(1420-1422)tcC>tcA		RNA 2',3'-cyclic phosphate and 5'-OH ligase							103	89	94					22																	32784075		2203	4300	6503	SO:0001819	synonymous_variant	51493							g.chr22:32784075G>T	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.1422C>A	22.37:g.32784075G>T			Somatic				RTCB_ENST00000451746.2_3'UTR	p.S474S	NM_014306.4	NP_055121.1	WXS	Illumina GAIIx	Phase_I					12	1520	-									Silent	SNP	ENST00000216038.5	37	c.1422C>A	CCDS13905.1																																																																																				0.403	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075188.3	NM_014306		3	18	1	0	0.00024832	1	0.000265446	3	18					T	32784075	G	T	32784075	2	4	5	1	0	0	0	0	0	0	0	1	2142	987	35	5		5	C22orf28	22	32784075	Silent	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	2904653	32784075	18520491	64	340										
TAF1	6872	broad.mit.edu	37	chrX	70607151	70607151	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	tcgtgctccaatttatcttcAtaagatgccagaaactgatt	6	9	2	3			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrX:70607151A>G	ENST00000373790.4	+	15	2315	c.2264A>G	c.(2263-2265)cAt>cGt	p.H755R	TAF1_ENST00000276072.3_Missense_Mutation_p.H776R|TAF1_ENST00000449580.1_Missense_Mutation_p.H755R|TAF1_ENST00000423759.1_Missense_Mutation_p.H776R	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	755	Histone acetyltransferase (HAT).				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)				ATTTATCTTCATAAGATGCCA	0.373																																						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.(2263-2265)cAt>cGt		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							137	127	131					X																	70607151		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:70607151A>G		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2264A>G	X.37:g.70607151A>G	ENSP00000362895:p.His755Arg		Somatic				TAF1_ENST00000276072.3_Missense_Mutation_p.H776R|TAF1_ENST00000423759.1_Missense_Mutation_p.H776R|TAF1_ENST00000373790.4_Missense_Mutation_p.H755R	p.H755R			WXS	Illumina GAIIx	Phase_I	P21675	TAF1_HUMAN			15	2315	+	Renal(35;0.156)	all_lung(315;0.000321)	755					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.2264A>G	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.068723	0.76301	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.03	5.03	0.67393	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.090151	0.85682	D	0.000000	T	0.52709	0.1751	M	0.89478	3.035	0.80722	D	1	D;P	0.76494	0.999;0.709	D;P	0.85130	0.997;0.781	T	0.62905	-0.6755	10	0.87932	D	0	.	14.1119	0.65126	1.0:0.0:0.0:0.0	.	755;776	P21675;P21675-2	TAF1_HUMAN;.	R	755;755;776;776	ENSP00000362895:H755R;ENSP00000389000:H755R;ENSP00000406549:H776R;ENSP00000276072:H776R	ENSP00000276072:H776R	H	+	2	0	TAF1	70523876	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.954000	0.93051	1.779000	0.52309	0.373000	0.22412	CAT		0.373	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		67	13	0	0	0	1	0	67	13					G	70607151	A	G	70607151	3	3	5	1	0	0	0	0	1	0	0	0	15528	217	8	4	2385	4	TAF1	23	70607151	Missense_Mutation	SNP	A	TCGA-N5-A4RJ-01A-11D-A28R-08		70607151	84663409	65	341										
MAGEE2	139599	broad.mit.edu	37	chrX	75004287	75004287	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	tcaacttttagcagcaagtcCcaaatggaggcctctcttgc	8	12	2	0			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrX:75004287C>A	ENST00000373359.2	-	1	792	c.600G>T	c.(598-600)tgG>tgT	p.W200C		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	200	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCAAGTCCCAAATGGAGG	0.512																																						ENST00000373359.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(598-600)tgG>tgT		melanoma antigen family E, 2							67	61	63					X																	75004287		2203	4300	6503	SO:0001583	missense	139599							g.chrX:75004287C>A	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.600G>T	X.37:g.75004287C>A	ENSP00000362457:p.Trp200Cys		Somatic					p.W200C	NM_138703.4	NP_619648.1	WXS	Illumina GAIIx	Phase_I	Q8TD90	MAGE2_HUMAN			1	792	-			200			MAGE 1.		Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.600G>T	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	C	4.038	0.004714	0.07866	.	.	ENSG00000186675	ENST00000373359	T	0.05925	3.37	3.1	2.21	0.28008	.	.	.	.	.	T	0.15219	0.0367	M	0.92122	3.275	0.26803	N	0.969154	B	0.28082	0.2	B	0.31751	0.135	T	0.10543	-1.0625	9	0.72032	D	0.01	.	7.1813	0.25774	0.0:0.7278:0.2722:0.0	.	200	Q8TD90	MAGE2_HUMAN	C	200	ENSP00000362457:W200C	ENSP00000362457:W200C	W	-	3	0	MAGEE2	74921012	1.000000	0.71417	0.289000	0.24876	0.026000	0.11368	1.172000	0.31908	0.664000	0.31047	0.422000	0.28245	TGG		0.512	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		18	26	1	0	3.41278e-10	1	3.82396e-10	18	26					A	75004287	C	A	75004287	3	1	5	1	0	0	0	0	1	0	0	0	9195	624	22	5	975	5	MAGEE2	23	75004287	Missense_Mutation	SNP	C	TCGA-N5-A4RJ-01A-11D-A28R-08	4397136	75004287	80266273	66	342										
GPRASP1	9737	broad.mit.edu	37	chrX	101911930	101911930	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	ggccatttgcaggtccacgtGttcagttgaacaggagcctg	13	10	1	1			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrX:101911930G>T	ENST00000361600.5	+	5	3890	c.3089G>T	c.(3088-3090)tGt>tTt	p.C1030F	GPRASP1_ENST00000415986.1_Missense_Mutation_p.C1030F|GPRASP1_ENST00000537097.1_Missense_Mutation_p.C1030F|GPRASP1_ENST00000444152.1_Missense_Mutation_p.C1030F|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1030	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGTCCACGTGTTCAGTTGAA	0.562																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3088-3090)tGt>tTt		G protein-coupled receptor associated sorting protein 1							136	121	126					X																	101911930		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101911930G>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3089G>T	X.37:g.101911930G>T	ENSP00000355146:p.Cys1030Phe		Somatic				GPRASP1_ENST00000415986.1_Missense_Mutation_p.C1030F|GPRASP1_ENST00000444152.1_Missense_Mutation_p.C1030F|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.C1030F	p.C1030F	NM_001184727.1	NP_001171656.1	WXS	Illumina GAIIx	Phase_I	Q5JY77	GASP1_HUMAN			6	3902	+			1030			OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.3089G>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.936392	0.00484	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	2.84	-3.74	0.04385	.	.	.	.	.	T	0.03608	0.0103	N	0.22421	0.69	0.09310	N	1	B	0.29212	0.237	B	0.18561	0.022	T	0.45745	-0.9240	9	0.10111	T	0.7	0.0077	5.1215	0.14862	0.6019:0.173:0.2251:0.0	.	1030	Q5JY77	GASP1_HUMAN	F	1030	ENSP00000393691:C1030F;ENSP00000409420:C1030F;ENSP00000355146:C1030F;ENSP00000445683:C1030F	ENSP00000355146:C1030F	C	+	2	0	GPRASP1	101798586	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.645000	0.05409	-1.230000	0.02561	0.284000	0.19432	TGT		0.562	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		4	131	1	0	1	1	1	4	131					T	101911930	G	T	101911930	3	4	5	1	0	0	0	0	1	0	0	0	6731	1377	48	5	3091	5	GPRASP1	23	101911930	Missense_Mutation	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	26907643	101911930	53358630	67	343										
CDR1	1038	broad.mit.edu	37	chrX	139865785	139865785	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0294117647058824	2	1	0.371851851851852	1.1952380952381	0.220175438596491	1	1	0	gtcttccagaaagaaatccaGgtcttccagtcaatcagtgt	8	10	4	2			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrX:139865785G>A	ENST00000370532.2	-	1	938	c.747C>T	c.(745-747)acC>acT	p.T249T		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	249										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)				AAGAAATCCAGGTCTTCCAGT	0.418																																						ENST00000370532.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25						c.(745-747)acC>acT		cerebellar degeneration-related protein 1, 34kDa							100	99	99					X																	139865785		2203	4300	6503	SO:0001819	synonymous_variant	1038							g.chrX:139865785G>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.747C>T	X.37:g.139865785G>A			Somatic					p.T249T	NM_004065.2	NP_004056.2	WXS	Illumina GAIIx	Phase_I	P51861	CDR1_HUMAN			1	938	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	249					Q5JXH6	Silent	SNP	ENST00000370532.2	37	c.747C>T	CCDS14670.1																																																																																				0.418	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		96	12	0	0	0	1	0	96	12					A	139865785	G	A	139865785	2	1	5	1	0	0	0	0	0	0	0	1	3173	987	35	3		3	CDR1	23	139865785	Silent	SNP	G	TCGA-N5-A4RJ-01A-11D-A28R-08	37953855	139865785	15404775	68	344										
CPSF3L	54973	broad.mit.edu	37	chr1	1248278	1248278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	cagctgcatgatgcccttggCgtccgcgtgtgcgctgaatg	14	12	0	2			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:1248278C>T	ENST00000435064.1	-	12	1265	c.1183G>A	c.(1183-1185)Gcc>Acc	p.A395T	CPSF3L_ENST00000545578.1_Missense_Mutation_p.A366T|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000411962.1_Missense_Mutation_p.A297T|CPSF3L_ENST00000450926.2_Missense_Mutation_p.A373T|CPSF3L_ENST00000540437.1_Missense_Mutation_p.A401T|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A294T|CPSF3L_ENST00000421495.2_Missense_Mutation_p.A137T	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	395					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		ATGCCCTTGGCGTCCGCGTGT	0.617																																						ENST00000540437.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(1201-1203)Gcc>Acc		cleavage and polyadenylation specific factor 3-like							51	48	49					1																	1248278		2200	4297	6497	SO:0001583	missense	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1248278C>T	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.1183G>A	1.37:g.1248278C>T	ENSP00000413493:p.Ala395Thr		Somatic				CPSF3L_ENST00000411962.1_Missense_Mutation_p.A297T|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000450926.2_Missense_Mutation_p.A373T|CPSF3L_ENST00000435064.1_Missense_Mutation_p.A395T|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A294T|CPSF3L_ENST00000545578.1_Missense_Mutation_p.A366T|CPSF3L_ENST00000421495.2_Missense_Mutation_p.A137T	p.A401T	NM_001256456.1	NP_001243385.1	WXS	Illumina GAIIx	Phase_I	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	14	1656	-	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)	395					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	c.1201G>A	CCDS21.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118542	0.94385	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000294579;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578	T;T;T;T;T	0.46063	0.95;0.95;0.95;0.95;0.88	5.4	5.4	0.78164	RNA-metabolising metallo-beta-lactamase (1);	0.000000	0.85682	D	0.000000	T	0.69378	0.3104	M	0.89030	3	0.80722	D	1	D;D;D;D;D;D	0.71674	0.985;0.996;0.998;0.997;0.985;0.988	P;P;P;P;P;P	0.62491	0.743;0.889;0.903;0.897;0.743;0.833	T	0.75825	-0.3181	10	0.66056	D	0.02	-41.7598	19.1408	0.93445	0.0:1.0:0.0:0.0	.	373;366;297;294;401;395	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	T	395;297;288;294;401;373;366	ENSP00000413493:A395T;ENSP00000404886:A294T;ENSP00000445001:A401T;ENSP00000392848:A373T;ENSP00000444672:A366T	ENSP00000294579:A288T	A	-	1	0	CPSF3L	1238141	1.000000	0.71417	0.983000	0.44433	0.564000	0.35744	5.294000	0.65687	2.529000	0.85273	0.563000	0.77884	GCC		0.617	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		50	51	0	0	0	1	0	50	51					T	1248278	C	T	1248278	3	4	6	1	0	0	0	0	1	0	0	0	3829	768	27	1	643	1	CPSF3L	1	1248278	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08		1248278	248002343	1	345										
KCNAB2	8514	broad.mit.edu	37	chr1	6149094	6149094	+	Frame_Shift_Del	DEL	G	G	-													0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	gacggagcggggcctgtccaGgaagcacataatcgaaggtg							TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:6149094delG	ENST00000164247.1	+	9	962	c.398delG	c.(397-399)aggfs	p.R133fs	KCNAB2_ENST00000458166.2_Frame_Shift_Del_p.R66fs|KCNAB2_ENST00000341524.1_Frame_Shift_Del_p.R133fs|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378097.1_Frame_Shift_Del_p.R133fs|KCNAB2_ENST00000378083.3_Frame_Shift_Del_p.R166fs|KCNAB2_ENST00000378092.1_Frame_Shift_Del_p.R119fs|KCNAB2_ENST00000602612.1_Frame_Shift_Del_p.R133fs|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000352527.1_Frame_Shift_Del_p.R119fs	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	133					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTGTCCAGGAAGCACATA	0.632																																						ENST00000164247.1																			0				large_intestine(1)|lung(4)|skin(3)	8						c.(397-399)agfs		potassium voltage-gated channel, shaker-related subfamily, beta member 2							52	48	49					1																	6149094		1977	3858	5835	SO:0001589	frameshift_variant	8514					cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr1:6149094delG	U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"Potassium channels", "Aldo-keto reductases"	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.398delG	1.37:g.6149094delG	ENSP00000164247:p.Arg133fs		Somatic				KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000378092.1_Frame_Shift_Del_p.R119fs|KCNAB2_ENST00000458166.2_Frame_Shift_Del_p.R66fs|KCNAB2_ENST00000378083.3_Frame_Shift_Del_p.R166fs|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378097.1_Frame_Shift_Del_p.R133fs|KCNAB2_ENST00000352527.1_Frame_Shift_Del_p.R119fs|KCNAB2_ENST00000341524.1_Frame_Shift_Del_p.R133fs|KCNAB2_ENST00000602612.1_Frame_Shift_Del_p.R133fs	p.R133fs	NM_001199860.1	NP_001186789.1	WXS	Illumina GAIIx	Phase_I	Q13303	KCAB2_HUMAN		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)	9	962	+	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	133					A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Frame_Shift_Del	DEL	ENST00000164247.1	37	c.398delG	CCDS55.1																																																																																				0.632	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002114.3	NM_172130		2	4						2	4	---	---	---	---	-	6149094	G	-	6149094	7	5	6	1	0	1	0	1	0	0	0	0	8019	1000	35	0	428	0	KCNAB2	1	6149094	Frame_Shift_Del	DEL	G	TCGA-N5-A4RM-01A-11D-A28R-08	4900816	6149094	243101527	2	346										
SPEN	23013	broad.mit.edu	37	chr1	16202965	16202978	+	Frame_Shift_Del	DEL	ACCCGGGAGGTACG	ACCCGGGAGGTACG	-													0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	atatctacagggatgatattAcccgggaggtacgaggcaga					rs146447271|rs550385254|rs139125517		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:16202965_16202978delACCCGGGAGGTACG	ENST00000375759.3	+	3	877_890	c.673_686delACCCGGGAGGTACG	c.(673-687)acccgggaggtacgafs	p.TREVR225fs	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	225	Arg-rich.				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)		GGATGATATTACCCGGGAGGTACGAGGCAGAAGG	0.528																																						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.(673-687)afs		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.chr1:16202965_16202978delACCCGGGAGGTACG		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.673_686delACCCGGGAGGTACG	1.37:g.16202965_16202978delACCCGGGAGGTACG	ENSP00000364912:p.Thr225fs		Somatic				SPEN_ENST00000471538.1_3'UTR	p.TREVR225fs	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)	3	877_890	+		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)	225			Arg-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	c.673_686delACCCGGGAGGTACG	CCDS164.1																																																																																				0.528	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		46	105						46	105	---	---	---	---	-	16202978	ACCCGGGAGGTACG	-	16202965	7	5	6	1	0	1	0	1	0	0	0	0	15053	391	14	0	683	0	SPEN	1	16202965	Frame_Shift_Del	DEL	ACCCGGGAGGTACG	TCGA-N5-A4RM-01A-11D-A28R-08	10053871	16202965	233047656	3	347										
TIE1	7075	broad.mit.edu	37	chr1	43772665	43772665	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	ttctttcggctcatcgtgcgGggtcagaggcagagggcaga	16	9	3	3	rs34084603	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:43772665G>T	ENST00000372476.3	+	4	718	c.639G>T	c.(637-639)cgG>cgT	p.R213R	TIE1_ENST00000538015.1_Splice_Site_p.R213R|TIE1_ENST00000433781.2_5'Flank|TIE1_ENST00000441333.2_Splice_Site_p.R213R	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	213					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)				TCATCGTGCGGGGTCAGAGGC	0.637																																						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.e4+1		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							40	46	44					1																	43772665		2203	4300	6503	SO:0001630	splice_region_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43772665G>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.640+1G>T	1.37:g.43772665G>T			Somatic				TIE1_ENST00000538015.1_Splice_Site_p.R213_splice|TIE1_ENST00000441333.2_Splice_Site_p.R213_splice	p.R213_splice	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	WXS	Illumina GAIIx	Phase_I	P35590	TIE1_HUMAN			4	718	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	213					B5A949|B5A950	Splice_Site	SNP	ENST00000372476.3	37	c.640_splice	CCDS482.1																																																																																				0.637	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424	Silent	5	142	1	0	0.00116845	1	0.00122356	5	142					T	43772665	G	T	43772665	5	4	6	1	0	0	0	0	0	0	1	0	15908	1246	43	5	653	5	TIE1	1	43772665	Splice_Site	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08	27569700	43772665	205477956	4	348										
ATP8B2	57198	broad.mit.edu	37	chr1	154318722	154318722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	cacaggatgtccccgagcagCggagcatggagtaccctaag	13	12	0	0			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:154318722C>T	ENST00000368489.3	+	25	2893	c.2893C>T	c.(2893-2895)Cgg>Tgg	p.R965W		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	951					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)			CCCCGAGCAGCGGAGCATGGA	0.577																																						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.(2893-2895)Cgg>Tgg		ATPase, aminophospholipid transporter, class I, type 8B, member 2							88	88	88					1																	154318722		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.chr1:154318722C>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.2893C>T	1.37:g.154318722C>T	ENSP00000357475:p.Arg965Trp		Somatic					p.R965W	NM_020452.3	NP_065185.1	WXS	Illumina GAIIx	Phase_I	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		25	2893	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		951					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.2893C>T	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756847	0.31137	.	.	ENSG00000143515	ENST00000368489	T	0.71341	-0.56	4.34	2.33	0.28932	.	0.146307	0.43260	D	0.000589	T	0.12050	0.0293	N	0.00143	-2	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.08932	-1.0698	10	0.34782	T	0.22	.	4.9521	0.14019	0.1721:0.6474:0.0:0.1806	.	965	P98198-3	.	W	965	ENSP00000357475:R965W	ENSP00000357475:R965W	R	+	1	2	ATP8B2	152585346	0.978000	0.34361	1.000000	0.80357	0.989000	0.77384	0.363000	0.20301	0.966000	0.38159	0.561000	0.74099	CGG		0.577	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		101	105	0	0	0	1	0	101	105					T	154318722	C	T	154318722	3	4	6	1	0	0	0	0	1	0	0	0	1195	759	27	1	3121	1	ATP8B2	1	154318722	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08	110546057	154318722	94931899	5	349										
RAB25	57111	broad.mit.edu	37	chr1	156039516	156039516	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	cctggactctaccaatgttgAgctagcctttgagactgtcc	9	12	1	2			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:156039516A>G	ENST00000361084.5	+	4	729	c.488A>G	c.(487-489)gAg>gGg	p.E163G	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	163					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					ACCAATGTTGAGCTAGCCTTT	0.498																																						ENST00000361084.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(487-489)gAg>gGg		RAB25, member RAS oncogene family							261	253	256					1																	156039516		1975	4150	6125	SO:0001583	missense	57111				positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding	g.chr1:156039516A>G	AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"RAB, member RAS oncogene"	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.488A>G	1.37:g.156039516A>G	ENSP00000354376:p.Glu163Gly		Somatic				RAB25_ENST00000487325.1_3'UTR	p.E163G	NM_020387.2	NP_065120.2	WXS	Illumina GAIIx	Phase_I	P57735	RAB25_HUMAN			4	729	+	Hepatocellular(266;0.158)|all_neural(408;0.195)		163					Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Missense_Mutation	SNP	ENST00000361084.5	37	c.488A>G	CCDS41413.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.661677	0.88154	.	.	ENSG00000132698	ENST00000361084	T	0.79141	-1.24	5.05	5.05	0.67936	Small GTP-binding protein domain (1);	0.051559	0.85682	D	0.000000	D	0.83691	0.5309	M	0.72624	2.21	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.86178	0.1604	10	0.87932	D	0	.	12.7895	0.57526	1.0:0.0:0.0:0.0	.	163	P57735	RAB25_HUMAN	G	163	ENSP00000354376:E163G	ENSP00000354376:E163G	E	+	2	0	RAB25	154306140	1.000000	0.71417	0.989000	0.46669	0.959000	0.62525	9.007000	0.93597	2.117000	0.64856	0.402000	0.26972	GAG		0.498	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046185.1			11	470	0	0	0	1	0	11	470					G	156039516	A	G	156039516	3	3	6	1	0	0	0	0	1	0	0	0	12927	304	11	4	502	4	RAB25	1	156039516	Missense_Mutation	SNP	A	TCGA-N5-A4RM-01A-11D-A28R-08	1720794	156039516	93211105	6	350										
FCRL3	115352	broad.mit.edu	37	chr1	157660318	157660318	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	ggtgaggacggggcgagacaCcggaactgagggaggaaaaa	19	6	0	3	rs143813895		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:157660318C>G	ENST00000368184.3	-	9	1708	c.1417G>C	c.(1417-1419)Gtg>Ctg	p.V473L	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.V473L|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	473						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGGCGAGACACCGGAACTGAG	0.537																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(1417-1419)Gtg>Ctg		Fc receptor-like 3							36	40	38					1																	157660318		2202	4297	6499	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157660318C>G	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1417G>C	1.37:g.157660318C>G	ENSP00000357167:p.Val473Leu		Somatic				FCRL3_ENST00000368186.5_Missense_Mutation_p.V473L|FCRL3_ENST00000473231.1_5'UTR	p.V473L	NM_052939.3	NP_443171.2	WXS	Illumina GAIIx	Phase_I	Q96P31	FCRL3_HUMAN			9	1708	-	all_hematologic(112;0.0378)		473					A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.1417G>C	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	.	11.25	1.583767	0.28268	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.02763	4.17;4.17	4.47	4.47	0.54385	.	0.481363	0.15576	N	0.255186	T	0.03608	0.0103	M	0.80508	2.5	0.23449	N	0.99766	P;P;P	0.41710	0.551;0.76;0.746	B;B;B	0.43754	0.248;0.269;0.43	T	0.08597	-1.0714	10	0.72032	D	0.01	.	12.5274	0.56093	0.0:1.0:0.0:0.0	.	473;378;473	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	L	473	ENSP00000357169:V473L;ENSP00000357167:V473L	ENSP00000292392:V473L	V	-	1	0	FCRL3	155926942	1.000000	0.71417	0.992000	0.48379	0.015000	0.08874	3.387000	0.52501	2.323000	0.78572	0.655000	0.94253	GTG		0.537	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		10	113	0	0	0	1	0	10	113					G	157660318	C	G	157660318	3	3	6	1	0	0	0	0	1	0	0	0	5804	507	18	5	815	5	FCRL3	1	157660318	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08	1620802	157660318	91590303	7	351										
IFI16	3428	broad.mit.edu	37	chr1	159002348	159002348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	aaacccgagaaacaatgaccCcaagagcatgaagctacccc	7	14	0	4			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:159002348C>T	ENST00000295809.7	+	7	1451	c.1196C>T	c.(1195-1197)cCc>cTc	p.P399L	IFI16_ENST00000448393.2_Missense_Mutation_p.P399L|IFI16_ENST00000430894.2_Missense_Mutation_p.P347L|IFI16_ENST00000340979.6_Missense_Mutation_p.P399L|IFI16_ENST00000368132.3_Missense_Mutation_p.P399L|IFI16_ENST00000368131.4_Missense_Mutation_p.P399L|IFI16_ENST00000359709.3_Missense_Mutation_p.P343L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	399					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)					AACAATGACCCCAAGAGCATG	0.428																																						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.(1195-1197)cCc>cTc		interferon, gamma-inducible protein 16							97	90	92					1																	159002348		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.chr1:159002348C>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.1196C>T	1.37:g.159002348C>T	ENSP00000295809:p.Pro399Leu		Somatic				IFI16_ENST00000430894.2_Missense_Mutation_p.P347L|IFI16_ENST00000448393.2_Missense_Mutation_p.P399L|IFI16_ENST00000368131.4_Missense_Mutation_p.P399L|IFI16_ENST00000340979.6_Missense_Mutation_p.P399L|IFI16_ENST00000368132.3_Missense_Mutation_p.P399L|IFI16_ENST00000359709.3_Missense_Mutation_p.P343L	p.P399L			WXS	Illumina GAIIx	Phase_I	Q16666	IF16_HUMAN			7	1451	+	all_hematologic(112;0.0429)		399					B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.1196C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.31|11.31	1.602404|1.602404	0.28534|0.28534	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894|ENST00000448393	T;T;T;T;T|.	0.04406|.	3.67;3.72;3.63;3.63;3.7|.	2.15|2.15	-1.57|-1.57	0.08506|0.08506	.|.	.|.	.|.	.|.	.|.	T|T	0.05823|0.05823	0.0152|0.0152	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;P|.	0.45827|.	0.032;0.867|.	B;B|.	0.41202|.	0.022;0.35|.	T|T	0.36841|0.36841	-0.9731|-0.9731	9|6	0.56958|0.12766	D|T	0.05|0.61	.|.	0.8732|0.8732	0.01218|0.01218	0.2333:0.3772:0.23:0.1595|0.2333:0.3772:0.23:0.1595	.|.	347;399|.	E7EPR3;Q16666-2|.	.;.|.	L|S	399;399;399;399;347|220	ENSP00000295809:P399L;ENSP00000342741:P399L;ENSP00000357113:P399L;ENSP00000357114:P399L;ENSP00000394935:P347L|.	ENSP00000295809:P399L|ENSP00000404325:P220S	P|P	+|+	2|1	0|0	IFI16|IFI16	157268972|157268972	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.513000|-0.513000	0.06305|0.06305	-0.384000|-0.384000	0.07845|0.07845	0.462000|0.462000	0.41574|0.41574	CCC|CCA		0.428	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		31	40	0	0	0	1	0	31	40					T	159002348	C	T	159002348	3	4	6	1	0	0	0	0	1	0	0	0	7520	623	22	3	1218	3	IFI16	1	159002348	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08	1342030	159002348	90248273	8	352										
USH2A	7399	broad.mit.edu	37	chr1	215823955	215823955	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	actgtctcagccccatgggcGctgctggagaacagcctgta	12	13	1	1	rs147037435	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:215823955G>C	ENST00000307340.3	-	65	14708	c.14322C>G	c.(14320-14322)agC>agG	p.S4774R	USH2A_ENST00000366943.2_Missense_Mutation_p.S4774R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4774	Fibronectin type-III 33. {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)		CCCCATGGGCGCTGCTGGAGA	0.483										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.(14320-14322)agC>agG		Usher syndrome 2A (autosomal recessive, mild)							74	74	74					1																	215823955		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.chr1:215823955G>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.14322C>G	1.37:g.215823955G>C	ENSP00000305941:p.Ser4774Arg	HNSCC(13;0.011)	Somatic				USH2A_ENST00000307340.3_Missense_Mutation_p.S4774R	p.S4774R			WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	65	14708	-			4774			Fibronectin type-III 33.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14322C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	8.430	0.848431	0.17034	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53206	0.63;0.63	5.27	0.151	0.14888	Fibronectin, type III (3);Immunoglobulin-like fold (1);	2.140360	0.02731	U	0.115089	T	0.35307	0.0927	N	0.26042	0.785	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.15665	-1.0429	10	0.17369	T	0.5	.	9.3675	0.38234	0.5308:0.0:0.4692:0.0	.	4774	O75445	USH2A_HUMAN	R	4774	ENSP00000305941:S4774R;ENSP00000355910:S4774R	ENSP00000305941:S4774R	S	-	3	2	USH2A	213890578	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.265000	0.18515	-0.005000	0.14395	-0.126000	0.14955	AGC		0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	155	0	0	0	1	0	5	155					C	215823955	G	C	215823955	3	2	6	1	0	0	0	0	1	0	0	0	17051	1078	38	5	1318	5	USH2A	1	215823955	Missense_Mutation	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08	56821607	215823955	33426666	9	353										
TSSC1	7260	broad.mit.edu	37	chr2	3341870	3341870	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	tcacccgcttgatggaggagGacatttttatttataatgtt	9	6	1	1	rs375044108		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr2:3341870G>T	ENST00000382125.4	-	3	369	c.177C>A	c.(175-177)gtC>gtA	p.V59V	TSSC1_ENST00000398659.4_Silent_p.V59V|TSSC1_ENST00000443925.2_Silent_p.V59V	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	59										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GATGGAGGAGGACATTTTTAT	0.413																																					Colon(140;1261 1762 4183 34270 49743)	ENST00000398659.4																			0				breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18						c.(175-177)gtC>gtA		tumor suppressing subtransferable candidate 1							120	108	112					2																	3341870		2203	4300	6503	SO:0001819	synonymous_variant	7260						protein binding	g.chr2:3341870G>T	AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"WD repeat domain containing"	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.177C>A	2.37:g.3341870G>T			Somatic				TSSC1_ENST00000382125.4_Silent_p.V59V|TSSC1_ENST00000443925.2_Silent_p.V59V	p.V59V			WXS	Illumina GAIIx	Phase_I	Q53HC9	TSSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)	3	317	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)	59					D6W4Y1|O43179|Q53S19|Q53SG2	Silent	SNP	ENST00000382125.4	37	c.177C>A	CCDS1651.1																																																																																				0.413	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310		38	1	1	0	3.93418e-24	1	4.502e-24	38	1					T	3341870	G	T	3341870	2	4	6	1	0	0	0	0	0	0	0	1	16681	1161	41	2		2	TSSC1	2	3341870	Silent	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08		3341870	239857503	10	354										
ZFP36L2	678	broad.mit.edu	37	chr2	43452192	43452192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	gctgtggtgcaacttgggccGcggctcccgcgggaagccca	16	14	0	0			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr2:43452192G>A	ENST00000282388.3	-	2	1044	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	251					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				AACTTGGGCCGCGGCTCCCGC	0.761																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(751-753)Cgg>Tgg		ZFP36 ring finger protein-like 2							9	17	14					2																	43452192		2114	4206	6320	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452192G>A	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.751C>T	2.37:g.43452192G>A	ENSP00000282388:p.Arg251Trp		Somatic				THADA_ENST00000330266.7_Intron	p.R251W	NM_006887.4	NP_008818.3	WXS	Illumina GAIIx	Phase_I	P47974	TISD_HUMAN			2	1044	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	251					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.751C>T	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327693	0.41197	.	.	ENSG00000152518	ENST00000282388	T	0.53206	0.63	4.37	0.945	0.19543	.	0.425560	0.21316	N	0.076550	T	0.46983	0.1421	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	P	0.61800	0.894	T	0.43637	-0.9379	10	0.87932	D	0	-13.3234	5.1348	0.14928	0.0937:0.1173:0.6001:0.1889	.	251	P47974	TISD_HUMAN	W	251	ENSP00000282388:R251W	ENSP00000282388:R251W	R	-	1	2	ZFP36L2	43305696	0.995000	0.38212	0.927000	0.36925	0.163000	0.22366	0.966000	0.29331	0.280000	0.22209	-0.258000	0.10820	CGG		0.761	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		29	22	0	0	0	1	0	29	22					A	43452192	G	A	43452192	3	1	6	1	0	0	0	0	1	0	0	0	17662	1086	38	1	737	1	ZFP36L2	2	43452192	Missense_Mutation	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08	40110322	43452192	199747181	11	355										
LCT	3938	broad.mit.edu	37	chr2	136575373	136575373	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	ccctcagtggtgttcaggggCctgcgtggatcccagatgct	14	12	2	1			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr2:136575373C>T	ENST00000264162.2	-	6	1255	c.1245G>A	c.(1243-1245)agG>agA	p.R415R	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	415	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)	TGTTCAGGGGCCTGCGTGGAT	0.652																																						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.(1243-1245)agG>agA		lactase							69	68	68					2																	136575373		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.chr2:136575373C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1245G>A	2.37:g.136575373C>T			Somatic					p.R415R	NM_002299.2	NP_002290.2	WXS	Illumina GAIIx	Phase_I	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	1255	-			415			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.1245G>A	CCDS2178.1																																																																																				0.652	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		61	94	0	0	0	1	0	61	94					T	136575373	C	T	136575373	2	4	6	1	0	0	0	0	0	0	0	1	8702	738	26	3		3	LCT	2	136575373	Silent	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08	93123181	136575373	106624000	12	356										
SCN2A	6326	broad.mit.edu	37	chr2	166165867	166165867	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	aaccccctattacagatatgTgacagagtttgtggacctgg	10	9	0	3			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr2:166165867T>A	ENST00000375437.2	+	6	901	c.611T>A	c.(610-612)gTg>gAg	p.V204E	SCN2A_ENST00000375427.2_Intron|SCN2A_ENST00000283256.6_Missense_Mutation_p.V204E|SCN2A_ENST00000357398.3_Intron	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	204					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)	TACAGATATGTGACAGAGTTT	0.428																																						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.(610-612)gTg>gAg		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						84	78	80					2																	166165867		2203	4299	6502	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166165867T>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.611T>A	2.37:g.166165867T>A	ENSP00000364586:p.Val204Glu		Somatic				SCN2A_ENST00000357398.3_Intron|SCN2A_ENST00000283256.6_Missense_Mutation_p.V204E|SCN2A_ENST00000375427.2_Intron	p.V204E	NM_001040142.1	NP_001035232.1	WXS	Illumina GAIIx	Phase_I	Q99250	SCN2A_HUMAN			6	901	+			204					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.611T>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.674228	0.67928	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000283256	D;D;D	0.98876	-5.2;-5.2;-5.2	5.48	5.48	0.80851	Ion transport (1);	.	.	.	.	D	0.99372	0.9779	H	0.95745	3.715	0.80722	D	1	D	0.64830	0.994	D	0.68483	0.958	D	0.98597	1.0657	9	0.87932	D	0	.	15.8549	0.78968	0.0:0.0:0.0:1.0	.	204	Q99250	SCN2A_HUMAN	E	204	ENSP00000406454:V204E;ENSP00000364586:V204E;ENSP00000283256:V204E	ENSP00000283256:V204E	V	+	2	0	SCN2A	165874113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.206000	0.71126	0.533000	0.62120	GTG		0.428	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		35	22	0	0	0	1	0	35	22					A	166165867	T	A	166165867	3	1	6	1	0	0	0	0	1	0	0	0	13931	1696	59	4	725	4	SCN2A	2	166165867	Missense_Mutation	SNP	T	TCGA-N5-A4RM-01A-11D-A28R-08	29590494	166165867	77033506	13	357										
LYZL4	131375	broad.mit.edu	37	chr3	42448441	42448441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	tagccctcacgtgtgttctcGtagatggccatggggttgaa	13	9	2	2	rs571590107		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr3:42448441G>A	ENST00000287748.3	-	3	464	c.189C>T	c.(187-189)taC>taT	p.Y63Y	LYZL4_ENST00000441172.1_Silent_p.Y63Y|LYZL4_ENST00000470991.1_5'UTR	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	63					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)|nucleus (GO:0005634)	lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		GTGTGTTCTCGTAGATGGCCA	0.552													G|||	1	0.000199681	0	0	5008	,	,		21929	0.001		0	False		,,,				2504	0					ENST00000287748.3																			0				central_nervous_system(1)|endometrium(1)|lung(1)	3						c.(187-189)taC>taT		lysozyme-like 4							102	84	90					3																	42448441		2203	4300	6503	SO:0001819	synonymous_variant	131375				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr3:42448441G>A	BC016747, AF326749	CCDS2697.1	3p21.33	2006-04-12			ENSG00000157093	ENSG00000157093			28387	protein-coding gene	gene with protein product		612750				12477932	Standard	NM_144634		Approved	MGC26768, LYC4	uc003cle.3	Q96KX0	OTTHUMG00000131793	ENST00000287748.3:c.189C>T	3.37:g.42448441G>A			Somatic				LYZL4_ENST00000441172.1_Silent_p.Y63Y|LYZL4_ENST00000470991.1_5'UTR	p.Y63Y	NM_144634.2	NP_653235.1	WXS	Illumina GAIIx	Phase_I	Q96KX0	LYZL4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.222)	3	464	-			63						Silent	SNP	ENST00000287748.3	37	c.189C>T	CCDS2697.1																																																																																				0.552	LYZL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254729.2	NM_144634		34	56	0	0	0	1	0	34	56					A	42448441	G	A	42448441	2	1	6	1	0	0	0	0	0	0	0	1	9142	1140	40	1		1	LYZL4	3	42448441	Silent	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08		42448441	155573989	14	358										
GLYCTK	132158	broad.mit.edu	37	chr3	52324395	52324395	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	aggtcctgccccgcttggccCgagcccccttgcatccactc	9	20	0	0			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr3:52324395C>T	ENST00000436784.2	+	2	97	c.37C>T	c.(37-39)Cga>Tga	p.R13*	GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000473032.1_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000477382.1_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000305690.8_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000354773.4_Nonsense_Mutation_p.R13*|GLYCTK-AS1_ENST00000493616.1_RNA			Q8IVS8	GLCTK_HUMAN	glycerate kinase	13					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		CCGCTTGGCCCGAGCCCCCTT	0.657																																						ENST00000354773.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(37-39)Cga>Tga		glycerate kinase							14	17	16					3																	52324395		2159	4223	6382	SO:0001587	stop_gained	132158				protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	g.chr3:52324395C>T		CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.37C>T	3.37:g.52324395C>T	ENSP00000389175:p.Arg13*		Somatic				GLYCTK_ENST00000477382.1_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000436784.2_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000473032.1_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000305690.8_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000471180.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA	p.R13*	NM_001144951.1	NP_001138423.1	WXS	Illumina GAIIx	Phase_I	Q8IVS8	GLCTK_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)	2	133	+			13					Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Nonsense_Mutation	SNP	ENST00000436784.2	37	c.37C>T	CCDS2852.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158634	0.94686	.	.	ENSG00000168237	ENST00000473032;ENST00000305690;ENST00000354773;ENST00000436784;ENST00000477382;ENST00000411757	.	.	.	5.59	2.72	0.32119	.	0.167775	0.41500	D	0.000879	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.0239	7.3434	0.26650	0.55:0.369:0.0:0.081	.	.	.	.	X	13	.	ENSP00000301965:R13X	R	+	1	2	GLYCTK	52299435	0.001000	0.12720	0.978000	0.43139	0.991000	0.79684	-0.063000	0.11655	0.654000	0.30846	0.655000	0.94253	CGA		0.657	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1	NM_145262		28	4	0	0	0	1	0	28	4					T	52324395	C	T	52324395	4	4	6	1	0	0	0	0	0	1	0	0	6490	644	23	1	39	1	GLYCTK	3	52324395	Nonsense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08	9875954	52324395	145698035	15	359										
CACNA1D	776	broad.mit.edu	37	chr3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-													0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	tcgctcaataaatgttcgtgGatgatgatgatgatgatgat							TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000288139.4_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						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)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	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		3.37:g.53529202_53529204delGAT			Somatic				CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del		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)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		10	117						10	117	---	---	---	---	-	53529195	GAT	-	53529193	7	5	6	1	0	1	0	1	0	0	0	0	2543	1189	41	0	2	0	CACNA1D	3	53529193	Start_Codon_Del	DEL	GAT	TCGA-N5-A4RM-01A-11D-A28R-08	1204798	53529193	144493237	16	360										
TRA2B	6434	broad.mit.edu	37	chr3	185643403	185643403	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	aatgccttcgggagcttcttCtggatctagacctgcaagac	10	11	3	2			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr3:185643403C>G	ENST00000453386.2	-	3	457	c.182G>C	c.(181-183)aGa>aCa	p.R61T	TRA2B_ENST00000382191.4_5'UTR|TRA2B_ENST00000471134.1_5'Flank	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	61	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GGAGCTTCTTCTGGATCTAGA	0.458																																						ENST00000453386.2																			0				breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						c.(181-183)aGa>aCa		transformer 2 beta homolog (Drosophila)							90	89	89					3																	185643403		2203	4300	6503	SO:0001583	missense	6434				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	g.chr3:185643403C>G	AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"RNA binding motif (RRM) containing"	10781	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 156"	602719	"splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.182G>C	3.37:g.185643403C>G	ENSP00000416959:p.Arg61Thr		Somatic				TRA2B_ENST00000382191.4_5'UTR	p.R61T	NM_004593.2	NP_004584.1	WXS	Illumina GAIIx	Phase_I	P62995	TRA2B_HUMAN			3	457	-			61			Arg/Ser-rich (RS1 domain).		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	ENST00000453386.2	37	c.182G>C	CCDS33905.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377079	0.61735	.	.	ENSG00000136527	ENST00000453386	T	0.26957	1.7	6.17	6.17	0.99709	.	0.097070	0.64402	D	0.000001	T	0.26955	0.0660	L	0.49778	1.585	0.80722	D	1	B;B	0.31655	0.334;0.334	B;B	0.32289	0.143;0.143	T	0.04593	-1.0940	10	0.10636	T	0.68	-7.0252	19.6509	0.95805	0.0:1.0:0.0:0.0	.	61;61	B2RDQ3;P62995	.;TRA2B_HUMAN	T	61	ENSP00000416959:R61T	ENSP00000416959:R61T	R	-	2	0	TRA2B	187126097	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.538000	0.60650	2.941000	0.99782	0.655000	0.94253	AGA		0.458	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593		11	67	0	0	0	1	0	11	67					G	185643403	C	G	185643403	3	3	6	1	0	0	0	0	1	0	0	0	16449	913	32	2	712	2	TRA2B	3	185643403	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08	132114210	185643403	12379027	17	361										
SORCS2	57537	broad.mit.edu	37	chr4	7725547	7725547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	agagccccggcatctaccgcGtgtccgtcagggcagagaac	13	14	2	2	rs370469470	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr4:7725547G>A	ENST00000507866.2	+	19	2657	c.2548G>A	c.(2548-2550)Gtg>Atg	p.V850M	SORCS2_ENST00000329016.9_Missense_Mutation_p.V678M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	850	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CATCTACCGCGTGTCCGTCAG	0.602													G|||	6	0.00119808	8e-04	0	5008	,	,		18267	0		0	False		,,,				2504	0.0051					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.(2548-2550)Gtg>Atg		sortilin-related VPS10 domain containing receptor 2		G	MET/VAL	1,4105		0,1,2052	76	78	77		2548	2	0.9	4		77	0,8372		0,0,4186	no	missense	SORCS2	NM_020777.2	21	0,1,6238	AA,AG,GG		0.0,0.0244,0.0080	probably-damaging	850/1160	7725547	1,12477	2053	4186	6239	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7725547G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2548G>A	4.37:g.7725547G>A	ENSP00000422185:p.Val850Met		Somatic				SORCS2_ENST00000329016.9_Missense_Mutation_p.V678M	p.V850M	NM_020777.2	NP_065828.2	WXS	Illumina GAIIx	Phase_I	Q96PQ0	SORC2_HUMAN			19	2657	+			850			PKD.		Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.2548G>A	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049844	0.36181	2.44E-4	0.0	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.75821	-0.97;-0.97	2.82	1.97	0.26223	PKD/Chitinase domain (1);PKD domain (4);	0.000000	0.64402	U	0.000011	D	0.82618	0.5076	M	0.75777	2.31	0.53005	D	0.999965	D;D	0.89917	0.999;1.0	D;D	0.70716	0.922;0.97	T	0.81913	-0.0715	10	0.87932	D	0	.	9.4847	0.38922	0.1081:0.0:0.8919:0.0	.	678;850	B5MED8;Q96PQ0	.;SORC2_HUMAN	M	850;678	ENSP00000422185:V850M;ENSP00000329124:V678M	ENSP00000329124:V678M	V	+	1	0	SORCS2	7776447	1.000000	0.71417	0.925000	0.36789	0.019000	0.09904	8.741000	0.91583	0.399000	0.25367	-0.373000	0.07131	GTG		0.602	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		81	73	0	0	0	1	0	81	73					A	7725547	G	A	7725547	3	1	6	1	0	0	0	0	1	0	0	0	14946	1145	40	1	2622	1	SORCS2	4	7725547	Missense_Mutation	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08		7725547	183428729	18	362										
SGMS2	166929	broad.mit.edu	37	chr4	108816771	108816771	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	aaatcaacccagtgatcctaCgaacacttatgcaagacccg	6	13	1	2	rs17038204	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr4:108816771C>A	ENST00000394684.4	+	3	619	c.62C>A	c.(61-63)aCg>aAg	p.T21K	RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.T21K|SGMS2_ENST00000394686.3_Missense_Mutation_p.T21K	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	21			T -> M (in dbSNP:rs17038204).		small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		AGTGATCCTACGAACACTTAT	0.423																																						ENST00000394684.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20						c.(61-63)aCg>aAg		sphingomyelin synthase 2	Choline(DB00122)						122	116	118					4																	108816771		2203	4300	6503	SO:0001583	missense	166929				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr4:108816771C>A	BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.62C>A	4.37:g.108816771C>A	ENSP00000378176:p.Thr21Lys		Somatic				RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000394686.3_Missense_Mutation_p.T21K|SGMS2_ENST00000359079.4_Missense_Mutation_p.T21K|RP11-286E11.1_ENST00000513071.1_RNA	p.T21K	NM_001136258.1	NP_001129730.1	WXS	Illumina GAIIx	Phase_I	Q8NHU3	SMS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	3	619	+			21		T -> M (in dbSNP:rs17038204).			A8K2S9|B2RA61	Missense_Mutation	SNP	ENST00000394684.4	37	c.62C>A	CCDS3677.1	.	.	.	.	.	.	.	.	.	.	C	6.223	0.409350	0.11812	.	.	ENSG00000164023	ENST00000394684;ENST00000359079;ENST00000506993;ENST00000394686;ENST00000503385	T;T;T;T;T	0.51817	0.95;0.95;0.69;0.95;0.76	5.97	5.97	0.96955	.	0.703523	0.14126	N	0.339718	T	0.28699	0.0711	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.09530	-1.0670	9	.	.	.	-9.1965	13.6104	0.62074	0.0:0.9296:0.0:0.0704	.	21	Q8NHU3	SMS2_HUMAN	K	21	ENSP00000378176:T21K;ENSP00000351981:T21K;ENSP00000428294:T21K;ENSP00000378178:T21K;ENSP00000430172:T21K	.	T	+	2	0	SGMS2	109036220	0.007000	0.16637	0.008000	0.14137	0.001000	0.01503	2.228000	0.42981	2.836000	0.97738	0.655000	0.94253	ACG		0.423	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621		11	125	1	0	3.07112e-06	1	3.3421e-06	11	125					A	108816771	C	A	108816771	3	1	6	1	0	0	0	0	1	0	0	0	14230	536	19	5	64	5	SGMS2	4	108816771	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08	101091224	108816771	82337505	19	363										
HCN1	348980	broad.mit.edu	37	chr5	45262055	45262055	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	agcaaatcgtggcttttctgCgtctgggtctgtgtttaaga	12	7	3	1	rs56377228		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:45262055C>A	ENST00000303230.4	-	8	2698	c.2641G>T	c.(2641-2643)Gca>Tca	p.A881S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	881					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						GGCTTTTCTGCGTCTGGGTCT	0.473																																						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	GRCh37	CM080409	HCN1	M	rs56377228	c.(2641-2643)Gca>Tca		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							92	107	102					5																	45262055		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262055C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2641G>T	5.37:g.45262055C>A	ENSP00000307342:p.Ala881Ser		Somatic					p.A881S	NM_021072.3	NP_066550.2	WXS	Illumina GAIIx	Phase_I	O60741	HCN1_HUMAN			8	2698	-			881						Missense_Mutation	SNP	ENST00000303230.4	37	c.2641G>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	3.074	-0.190501	0.06299	.	.	ENSG00000164588	ENST00000303230	D	0.97232	-4.3	5.01	2.17	0.27698	.	0.568318	0.16459	N	0.213510	D	0.88314	0.6403	N	0.08118	0	0.23620	N	0.997275	B	0.06786	0.001	B	0.04013	0.001	T	0.76921	-0.2780	10	0.05959	T	0.93	.	5.3395	0.15976	0.1412:0.6378:0.0:0.221	.	881	O60741	HCN1_HUMAN	S	881	ENSP00000307342:A881S	ENSP00000307342:A881S	A	-	1	0	HCN1	45297812	0.337000	0.24766	0.901000	0.35422	0.980000	0.70556	1.114000	0.31196	0.216000	0.20781	0.651000	0.88453	GCA		0.473	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		11	164	1	0	0.000151284	1	0.000161467	11	164					A	45262055	C	A	45262055	3	1	6	1	0	0	0	0	1	0	0	0	7005	768	27	5	35	5	HCN1	5	45262055	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08		45262055	135653205	20	364										
ARSB	411	broad.mit.edu	37	chr5	78280984	78280984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	gcccggcggcgccaacaacaGcagcagcagcagcgggagga	16	14	0	0			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:78280984G>A	ENST00000264914.4	-	1	624	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L	ARSB_ENST00000396151.3_Silent_p.L30L|ARSB_ENST00000565165.1_Silent_p.L30L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	30					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)		gccAACAACAGCAGCAGCAGC	0.751																																					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.(88-90)Ctg>Ttg		arylsulfatase B							3	4	3					5																	78280984		1372	3025	4397	SO:0001819	synonymous_variant	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78280984G>A	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.88C>T	5.37:g.78280984G>A			Somatic				ARSB_ENST00000565165.1_Silent_p.L30L|ARSB_ENST00000396151.3_Silent_p.L30L	p.L30L	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)	1	624	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	30					B2RC20|Q8N322|Q9UDI9	Silent	SNP	ENST00000264914.4	37	c.88C>T	CCDS4043.1																																																																																				0.751	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		4	22	0	0	0	1	0	4	22					A	78280984	G	A	78280984	2	1	6	1	0	0	0	0	0	0	0	1	988	962	34	3		3	ARSB	5	78280984	Silent	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08	33018929	78280984	102634276	21	365										
SRP19	6728	broad.mit.edu	37	chr5	112198213	112198213	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	tgtctatggcaggtttatttGtatctatcctgcttatttaa	7	6	2	0	rs77541650		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:112198213G>T	ENST00000505459.1	+	2	205	c.50G>T	c.(49-51)tGt>tTt	p.C17F	CTC-487M23.8_ENST00000512790.1_3'UTR|SRP19_ENST00000282999.3_Missense_Mutation_p.C17F|CTC-554D6.1_ENST00000520401.1_Missense_Mutation_p.L88F|CTC-487M23.8_ENST00000506997.1_Missense_Mutation_p.C17F|SRP19_ENST00000515463.1_Intron	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN	signal recognition particle 19kDa	17					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)		AGGTTTATTTGTATCTATCCT	0.458																																						ENST00000505459.1																			0				breast(1)|cervix(1)|large_intestine(1)	3						c.(49-51)tGt>tTt		signal recognition particle 19kDa							55	56	56					5																	112198213		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.chr5:112198213G>T		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.50G>T	5.37:g.112198213G>T	ENSP00000424870:p.Cys17Phe		Somatic				SRP19_ENST00000515463.1_Intron|SRP19_ENST00000512790.1_3'UTR|SRP19_ENST00000282999.3_Missense_Mutation_p.C17F|CTC-554D6.1_ENST00000520401.1_Missense_Mutation_p.L88F	p.C17F	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	205	+		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)	17					B2R4E9|D6RCQ5|Q05D77|Q96FG6	Missense_Mutation	SNP	ENST00000505459.1	37	c.50G>T	CCDS4108.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617389	0.66672	.	.	ENSG00000153037	ENST00000505459;ENST00000282999	T;T	0.47528	0.84;0.84	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	M	0.86343	2.81	0.80722	D	1	P;B	0.37061	0.58;0.085	B;B	0.33690	0.168;0.063	T	0.64728	-0.6339	10	0.66056	D	0.02	-4.5168	16.395	0.83601	0.0:0.0:1.0:0.0	.	17;17	P09132;Q05D77	SRP19_HUMAN;.	F	17	ENSP00000424870:C17F;ENSP00000282999:C17F	ENSP00000282999:C17F	C	+	2	0	SRP19	112226112	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.803000	0.85983	2.680000	0.91292	0.655000	0.94253	TGT		0.458	SRP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250737.3	NM_003135		4	35	1	0	0.00116845	1	0.00122356	4	35					T	112198213	G	T	112198213	3	4	6	1	0	0	0	0	1	0	0	0	15169	1377	48	5	56	5	SRP19	5	112198213	Missense_Mutation	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08	33917229	112198213	68717047	22	366										
PCDHGA10	56106	broad.mit.edu	37	chr5	140793312	140793312	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	ctaagagttcagagccgtgcCaatggcgtcaagtacccgga	12	11	2	2			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:140793312C>T	ENST00000398610.2	+	1	570	c.570C>T	c.(568-570)gcC>gcT	p.A190A	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_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	190	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(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)			AGAGCCGTGCCAATGGCGTCA	0.597																																						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.(568-570)gcC>gcT									39	41	40					5																	140793312		1989	4158	6147	SO:0001819	synonymous_variant	0							g.chr5:140793312C>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.570C>T	5.37:g.140793312C>T			Somatic				PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron	p.A190A	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	570	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.570C>T	CCDS47292.1																																																																																				0.597	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		19	35	0	0	0	1	0	19	35					T	140793312	C	T	140793312	2	4	6	1	0	0	0	0	0	0	0	1	11560	581	21	3		3	PCDHGA10	5	140793312	Silent	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08	28595099	140793312	40121948	23	367										
ARAP3	64411	broad.mit.edu	37	chr5	141044588	141044588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	tgtgccgcccccaccagccgCgcccccaatggctgcgttcc	10	21	0	0			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:141044588C>T	ENST00000239440.4	-	19	2766	c.2701G>A	c.(2701-2703)Gcg>Acg	p.A901T	ARAP3_ENST00000508305.1_Missense_Mutation_p.A803T|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.A563T	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	901					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCACCAGCCGCGCCCCCAATG	0.637											OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(2701-2703)Gcg>Acg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							22	26	24					5																	141044588		2203	4298	6501	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141044588C>T	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2701G>A	5.37:g.141044588C>T	ENSP00000239440:p.Ala901Thr		Somatic	OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1661	ARAP3_ENST00000508305.1_Missense_Mutation_p.A803T|ARAP3_ENST00000513878.1_Missense_Mutation_p.A563T|ARAP3_ENST00000512390.1_5'UTR	p.A901T	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			19	2766	-			901					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.2701G>A	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808387	0.70797	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.38240	1.15;1.15;1.15	4.83	4.83	0.62350	Pleckstrin homology domain (1);	0.062579	0.64402	D	0.000008	T	0.53530	0.1802	L	0.57536	1.79	0.51482	D	0.999926	D;D;D	0.89917	1.0;0.997;0.998	D;P;P	0.70487	0.969;0.803;0.67	T	0.53114	-0.8484	10	0.54805	T	0.06	.	12.7435	0.57266	0.2048:0.7952:0.0:0.0	.	563;803;901	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	T	803;901;563	ENSP00000421826:A803T;ENSP00000239440:A901T;ENSP00000421468:A563T	ENSP00000239440:A901T	A	-	1	0	ARAP3	141024772	0.989000	0.36119	0.107000	0.21349	0.299000	0.27559	2.852000	0.48310	2.518000	0.84900	0.650000	0.86243	GCG		0.637	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		24	22	0	0	0	1	0	24	22					T	141044588	C	T	141044588	3	4	6	1	0	0	0	0	1	0	0	0	840	768	27	1	1993	1	ARAP3	5	141044588	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08	251276	141044588	39870672	24	368										
PDGFRB	5159	broad.mit.edu	37	chr5	149500558	149500558	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	gagcacgttcctagccgccaGgtctctgtggacgcactggg	14	13	1	0			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:149500558G>C	ENST00000261799.4	-	18	2948	c.2479C>G	c.(2479-2481)Ctg>Gtg	p.L827V		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	827	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTAGCCGCCAGGTCTCTGTGG	0.542			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(2479-2481)Ctg>Gtg		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						130	115	120					5																	149500558		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149500558G>C	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2479C>G	5.37:g.149500558G>C	ENSP00000261799:p.Leu827Val		Somatic					p.L827V	NM_002609.3	NP_002600.1	WXS	Illumina GAIIx	Phase_I	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	2948	-		all_hematologic(541;0.224)	827			Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.2479C>G	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408823	0.83340	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.93712	-3.27	5.03	4.14	0.48551	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.400623	0.17842	N	0.160148	D	0.93167	0.7824	L	0.32530	0.975	0.53688	D	0.99997	D;D	0.69078	0.997;0.973	D;P	0.65140	0.932;0.728	D	0.91401	0.5143	10	0.41790	T	0.15	.	10.4316	0.44411	0.1528:0.0:0.8472:0.0	.	827;827	A8KAM8;P09619	.;PGFRB_HUMAN	V	827;497	ENSP00000261799:L827V	ENSP00000261799:L827V	L	-	1	2	PDGFRB	149480751	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.068000	0.50018	1.224000	0.43551	0.655000	0.94253	CTG		0.542	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		35	46	0	0	0	1	0	35	46					C	149500558	G	C	149500558	3	2	6	1	0	0	0	0	1	0	0	0	11671	991	35	5	865	5	PDGFRB	5	149500558	Missense_Mutation	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08	8455970	149500558	31414702	25	369										
LPA	4018	broad.mit.edu	37	chr6	160999636	160999636	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	cgattctgtcactggacatcGtgtcaggttgcagtactccc	10	12	3	0			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr6:160999636G>A	ENST00000316300.5	-	27	4434	c.4390C>T	c.(4390-4392)Cga>Tga	p.R1464*	LPA_ENST00000447678.1_Nonsense_Mutation_p.R1464*			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3972	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACTGGACATCGTGTCAGGTTG	0.527																																						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.(4390-4392)Cga>Tga		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						147	156	153					6																	160999636		2164	4290	6454	SO:0001587	stop_gained	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160999636G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4390C>T	6.37:g.160999636G>A	ENSP00000321334:p.Arg1464*		Somatic				LPA_ENST00000316300.5_Nonsense_Mutation_p.R1464*	p.R1464*	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)	28	4510	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3972			Kringle 13.		Q5VTD7|Q9UD88	Nonsense_Mutation	SNP	ENST00000316300.5	37	c.4390C>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	40	8.432078	0.98808	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.37	-4.07	0.03975	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	9.0646	0.36455	0.0:0.0:0.5818:0.4182	.	.	.	.	X	1464	.	ENSP00000321334:R1464X	R	-	1	2	LPA	160919626	0.001000	0.12720	0.000000	0.03702	0.350000	0.29205	0.929000	0.28844	-0.794000	0.04468	0.174000	0.16983	CGA		0.527	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		78	86	0	0	0	1	0	78	86					A	160999636	G	A	160999636	4	1	6	1	0	0	0	0	0	1	0	0	8912	1153	40	1	1784	1	LPA	6	160999636	Nonsense_Mutation	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08		160999636	10115431	26	370										
RNF216	54476	broad.mit.edu	37	chr7	5752492	5752492	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	ccttccatgcagctgagctcCaactagaaaaaggcgaaaag	9	11	0	2			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr7:5752492C>A	ENST00000425013.2	-	12	1889	c.1665G>T	c.(1663-1665)ttG>ttT	p.L555F	RNF216_ENST00000389902.3_Missense_Mutation_p.L612F	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	555					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)		AGCTGAGCTCCAACTAGAAAA	0.423																																						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.(1663-1665)ttG>ttT		ring finger protein 216							32	31	32					7																	5752492		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5752492C>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1665G>T	7.37:g.5752492C>A	ENSP00000404602:p.Leu555Phe		Somatic				RNF216_ENST00000389902.3_Missense_Mutation_p.L612F	p.L555F	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)	12	1889	-		Ovarian(82;0.07)	555					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.1665G>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	8.670	0.902562	0.17760	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.29917	1.55;1.55	5.72	-3.26	0.05064	.	0.234798	0.36932	N	0.002321	T	0.08714	0.0216	N	0.04090	-0.28	0.20873	N	0.999836	B;B	0.28378	0.001;0.209	B;B	0.32393	0.008;0.145	T	0.26883	-1.0090	10	0.10377	T	0.69	-4.8522	1.5001	0.02474	0.2157:0.1411:0.3785:0.2646	.	555;612	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	F	555;612;367	ENSP00000404602:L555F;ENSP00000374552:L612F	ENSP00000374552:L612F	L	-	3	2	RNF216	5719018	0.997000	0.39634	0.990000	0.47175	0.921000	0.55340	0.369000	0.20416	-0.444000	0.07170	-0.312000	0.09012	TTG		0.423	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		6	54	1	0	0.217242	1	0.217242	6	54					A	5752492	C	A	5752492	3	1	6	1	0	0	0	0	1	0	0	0	13495	593	21	5	959	5	RNF216	7	5752492	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08		5752492	153386171	27	371										
RNF216	54476	broad.mit.edu	37	chr7	5760801	5760801	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	cctcttttctatttttatgtCacctagaagatatacgacaa	4	9	3	2			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr7:5760801C>A	ENST00000425013.2	-	9	1560	c.1336G>T	c.(1336-1338)Gac>Tac	p.D446Y	RNF216_ENST00000389902.3_Missense_Mutation_p.D503Y	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	446					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)		ATTTTTATGTCACCTAGAAGA	0.458																																						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.(1336-1338)Gac>Tac		ring finger protein 216							94	87	89					7																	5760801		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5760801C>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1336G>T	7.37:g.5760801C>A	ENSP00000404602:p.Asp446Tyr		Somatic				RNF216_ENST00000389902.3_Missense_Mutation_p.D503Y	p.D446Y	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)	9	1560	-		Ovarian(82;0.07)	446					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.1336G>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582661	0.65992	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.50548	0.74;0.74	5.6	2.44	0.29823	.	0.244256	0.35096	N	0.003441	T	0.42017	0.1184	N	0.14661	0.345	0.33555	D	0.596684	D;D	0.58620	0.964;0.983	P;P	0.58331	0.643;0.837	T	0.54990	-0.8210	10	0.87932	D	0	-6.2747	7.4687	0.27336	0.0:0.6156:0.0:0.3844	.	446;503	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	Y	446;503;258	ENSP00000404602:D446Y;ENSP00000374552:D503Y	ENSP00000374552:D503Y	D	-	1	0	RNF216	5727327	0.986000	0.35501	0.999000	0.59377	0.985000	0.73830	0.570000	0.23653	0.178000	0.19917	0.484000	0.47621	GAC		0.458	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		4	62	1	0	0.00909568	1	0.00926257	4	62					A	5760801	C	A	5760801	3	1	6	1	0	0	0	0	1	0	0	0	13495	826	29	2	1300	2	RNF216	7	5760801	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08	8309	5760801	153377862	28	372										
ABCA13	154664	broad.mit.edu	37	chr7	48494835	48494835	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	ggccaccgagtaccctccccTcagactcacacctggacatt	7	18	2	1			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr7:48494835T>G	ENST00000435803.1	+	43	12791	c.12767T>G	c.(12766-12768)cTc>cGc	p.L4256R	ABCA13_ENST00000544596.1_Missense_Mutation_p.L16R	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4256					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						TACCCTCCCCTCAGACTCACA	0.542																																						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.(12766-12768)cTc>cGc		ATP-binding cassette, sub-family A (ABC1), member 13							23	27	26					7																	48494835		2016	4155	6171	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48494835T>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12767T>G	7.37:g.48494835T>G	ENSP00000411096:p.Leu4256Arg		Somatic				ABCA13_ENST00000544596.1_Missense_Mutation_p.L16R	p.L4256R	NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	Q86UQ4	ABCAD_HUMAN			43	12791	+			4256					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.12767T>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.643956	0.47258	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.94376	-3.41;-3.41;-3.27	5.19	5.19	0.71726	.	0.000000	0.43747	D	0.000537	D	0.96688	0.8919	M	0.86420	2.815	0.45899	D	0.998744	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.997;0.998	D	0.97122	0.9812	10	0.87932	D	0	.	11.7593	0.51892	0.0:0.0:0.0:1.0	.	16;1958;4256	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	R	4256;59;16	ENSP00000411096:L4256R;ENSP00000391042:L59R;ENSP00000442634:L16R	ENSP00000391042:L59R	L	+	2	0	ABCA13	48465381	0.996000	0.38824	0.934000	0.37439	0.209000	0.24338	4.818000	0.62657	2.090000	0.63153	0.459000	0.35465	CTC		0.542	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	35	0	0	0	1	0	4	35					G	48494835	T	G	48494835	3	3	6	1	0	0	0	0	1	0	0	0	31	1551	54	4	12766	4	ABCA13	7	48494835	Missense_Mutation	SNP	T	TCGA-N5-A4RM-01A-11D-A28R-08	42734034	48494835	110643828	29	373										
MLL3	58508	broad.mit.edu	37	chr7	151845550	151845550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	catgcattgtgctttaatggCgcaagtgaagtgataaatgt	11	5	0	2			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr7:151845550C>T	ENST00000262189.6	-	52	13680	c.13462G>A	c.(13462-13464)Gcc>Acc	p.A4488T	KMT2C_ENST00000355193.2_Missense_Mutation_p.A4545T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4488					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)										GCTTTAATGGCGCAAGTGAAG	0.423																																						ENST00000355193.2																			0											c.(13633-13635)Gcc>Acc		lysine (K)-specific methyltransferase 2C							143	136	138					7																	151845550		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151845550C>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.13462G>A	7.37:g.151845550C>T	ENSP00000262189:p.Ala4488Thr		Somatic				KMT2C_ENST00000262189.6_Missense_Mutation_p.A4488T	p.A4545T			WXS	Illumina GAIIx	Phase_I					53	13851	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.13633G>A	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.939808|3.939808	0.73557|0.73557	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	T;T;T|.	0.75821|.	-0.97;-0.97;-0.97|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);|.	0.000000|.	0.42821|.	U|.	0.000656|.	D|D	0.87845|0.87845	0.6280|0.6280	H|H	0.95712|0.95712	3.71|3.71	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.998;0.998|.	D|D	0.91278|0.91278	0.5049|0.5049	10|5	0.87932|.	D|.	0|.	.|.	19.1777|19.1777	0.93609|0.93609	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4488;3606;4545|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	T|H	4488;4545;1105|2048	ENSP00000262189:A4488T;ENSP00000347325:A4545T;ENSP00000410411:A1105T|.	ENSP00000262189:A4488T|.	A|R	-|-	1|2	0|0	MLL3|MLL3	151476483|151476483	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.921000|0.921000	0.55340|0.55340	7.776000|7.776000	0.85560|0.85560	2.602000|2.602000	0.87976|0.87976	0.557000|0.557000	0.71058|0.71058	GCC|CGC		0.423	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			82	88	0	0	0	1	0	82	88					T	151845550	C	T	151845550	3	4	6	1	0	0	0	0	1	0	0	0	9631	768	27	1	1305	1	MLL3	7	151845550	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08	103350715	151845550	7293113	30	374										
DLC1	10395	broad.mit.edu	37	chr8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	ccgactggctgctgctgctgCtggtctgcgtggagttggaa	16	10	1	0			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2221-2223)aGc>aCc		deleted in liver cancer 1							56	47	50					8																	12957624		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957624C>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2222G>C	8.37:g.12957624C>G	ENSP00000276297:p.Ser741Thr		Somatic				DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T	p.S741T	NM_182643.2	NP_872584.2	WXS	Illumina GAIIx	Phase_I	Q96QB1	RHG07_HUMAN			9	2631	-			741			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2222G>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC		0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		5	96	0	0	0	1	0	5	96					G	12957624	C	G	12957624	3	3	6	1	0	0	0	0	1	0	0	0	4552	797	28	5	2404	5	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08		12957624	133406398	31	375										
EPB49	2039	broad.mit.edu	37	chr8	21931326	21931326	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	gaaaacccgctctctgcctgAccggacacccttccatacct	6	18	1	1			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:21931326A>C	ENST00000523266.1	+	10	1277	c.815A>C	c.(814-816)gAc>gCc	p.D272A	DMTN_ENST00000443491.2_Missense_Mutation_p.D247A|DMTN_ENST00000381470.3_Missense_Mutation_p.D272A|DMTN_ENST00000358242.3_Missense_Mutation_p.D272A|DMTN_ENST00000432128.1_Missense_Mutation_p.D272A|DMTN_ENST00000523782.2_Missense_Mutation_p.D247A|DMTN_ENST00000265800.5_Missense_Mutation_p.D272A|DMTN_ENST00000519907.1_Missense_Mutation_p.D272A|DMTN_ENST00000517600.1_Missense_Mutation_p.D232A|DMTN_ENST00000415253.1_Missense_Mutation_p.D272A	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	272	Interaction with RASGRF2.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										TCTCTGCCTGACCGGACACCC	0.522																																						ENST00000358242.3																			0											c.(814-816)gAc>gCc		dematin actin binding protein							104	90	95					8																	21931326		2203	4300	6503	SO:0001583	missense	2039							g.chr8:21931326A>C	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"erythrocyte membrane protein band 4.9 (dematin)"	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.815A>C	8.37:g.21931326A>C	ENSP00000427866:p.Asp272Ala		Somatic				DMTN_ENST00000265800.5_Missense_Mutation_p.D272A|DMTN_ENST00000517600.1_Missense_Mutation_p.D232A|DMTN_ENST00000381470.3_Missense_Mutation_p.D272A|DMTN_ENST00000523782.2_Missense_Mutation_p.D247A|DMTN_ENST00000443491.2_Missense_Mutation_p.D247A|DMTN_ENST00000415253.1_Missense_Mutation_p.D272A|DMTN_ENST00000523266.1_Missense_Mutation_p.D272A|DMTN_ENST00000432128.1_Missense_Mutation_p.D272A|DMTN_ENST00000519907.1_Missense_Mutation_p.D272A	p.D272A			WXS	Illumina GAIIx	Phase_I					10	1308	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.815A>C	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.208227	0.39003	.	.	ENSG00000158856	ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000265800;ENST00000381455;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	4.39	4.39	0.52855	.	0.122369	0.52532	D	0.000063	T	0.44414	0.1292	L	0.46614	1.455	0.54753	D	0.999982	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.986;0.996;0.996;0.996;0.996;0.998	T	0.22765	-1.0207	10	0.33141	T	0.24	.	10.0161	0.42016	1.0:0.0:0.0:0.0	.	211;232;272;247;247;272	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	A	272;272;247;232;232;272;211;272;272;272;272	ENSP00000370879:D272A;ENSP00000416111:D272A;ENSP00000397904:D247A;ENSP00000430618:D232A;ENSP00000265800:D272A;ENSP00000350977:D272A;ENSP00000401291:D272A;ENSP00000427866:D272A;ENSP00000429377:D272A	ENSP00000265800:D272A	D	+	2	0	EPB49	21987272	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	5.671000	0.68095	1.627000	0.50400	0.379000	0.24179	GAC		0.522	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		28	67	0	0	0	1	0	28	67					C	21931326	A	C	21931326	3	2	6	1	0	0	0	0	1	0	0	0	5161	275	10	4	849	4	EPB49	8	21931326	Missense_Mutation	SNP	A	TCGA-N5-A4RM-01A-11D-A28R-08	8973702	21931326	124432696	32	376										
ADRA1A	148	broad.mit.edu	37	chr8	26627888	26627888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	aaaaatttccattcacaaacGccatccgtcttggagatcct	5	12	2	1	rs143947423		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:26627888G>A	ENST00000519229.1	-	2	1185	c.1179C>T	c.(1177-1179)ggC>ggT	p.G393G	ADRA1A_ENST00000380573.3_Silent_p.G393G|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Silent_p.G393G|ADRA1A_ENST00000276393.4_Silent_p.G393G|ADRA1A_ENST00000380582.3_Silent_p.G393G|ADRA1A_ENST00000354550.4_Silent_p.G393G|ADRA1A_ENST00000380581.2_Intron			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	351					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)	ATTCACAAACGCCATCCGTCT	0.552																																						ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(1177-1179)ggC>ggT		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)						120	117	118					8																	26627888		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.chr8:26627888G>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.1179C>T	8.37:g.26627888G>A			Somatic				ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000519229.1_Silent_p.G393G|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Silent_p.G393G|ADRA1A_ENST00000354550.4_Silent_p.G393G|ADRA1A_ENST00000276393.4_Silent_p.G393G|ADRA1A_ENST00000380586.1_Silent_p.G393G	p.G393G			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	2202	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	393					Q9NPY0	Silent	SNP	ENST00000519229.1	37	c.1179C>T																																																																																					0.552	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		104	102	0	0	0	1	0	104	102					A	26627888	G	A	26627888	2	1	6	1	0	0	0	0	0	0	0	1	334	1074	38	1		1	ADRA1A	8	26627888	Silent	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08	4696562	26627888	119736134	33	377										
CSPP1	79848	broad.mit.edu	37	chr8	68084769	68084769	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	cttttcagaatgttcatgatTttaatgagctgaaagataga	8	4	2	6			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:68084769T>G	ENST00000262210.5	+	23	2963	c.2932T>G	c.(2932-2934)Ttt>Gtt	p.F978V	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.F633V	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1013					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)			TGTTCATGATTTTAATGAGCT	0.388																																						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.(2932-2934)Ttt>Gtt		centrosome and spindle pole associated protein 1							50	51	51					8																	68084769		1839	4092	5931	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68084769T>G	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.2932T>G	8.37:g.68084769T>G	ENSP00000262210:p.Phe978Val		Somatic				CSPP1_ENST00000412460.1_Missense_Mutation_p.F633V|CSPP1_ENST00000521168.1_3'UTR	p.F978V	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	2963	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1013					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.2932T>G	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.704104	0.88924	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.60672	0.17;0.19;0.19	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.75243	0.3823	M	0.72894	2.215	0.44417	D	0.997335	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.998;0.997;0.997	T	0.78147	-0.2317	10	0.72032	D	0.01	-16.6361	15.5002	0.75691	0.0:0.0:0.0:1.0	.	136;633;978;1013	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	V	978;1013;633;633	ENSP00000262210:F978V;ENSP00000415782:F633V;ENSP00000430092:F633V	ENSP00000262210:F978V	F	+	1	0	CSPP1	68247323	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.501000	0.66950	2.129000	0.65627	0.533000	0.62120	TTT		0.388	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		12	27	0	0	0	1	0	12	27					G	68084769	T	G	68084769	3	3	6	1	0	0	0	0	1	0	0	0	3964	1841	64	4	3135	4	CSPP1	8	68084769	Missense_Mutation	SNP	T	TCGA-N5-A4RM-01A-11D-A28R-08	41456881	68084769	78279253	34	378										
VPS28	51160	broad.mit.edu	37	chr8	145649436	145649436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	acacccaccactggctgaccGtctggcggccctcaaagtcg	10	17	2	1			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:145649436G>A	ENST00000526054.1	-	8	573	c.536C>T	c.(535-537)aCg>aTg	p.T179M	VPS28_ENST00000292510.4_Missense_Mutation_p.T179M|VPS28_ENST00000526734.1_5'Flank|VPS28_ENST00000377348.2_Missense_Mutation_p.T179M|VPS28_ENST00000529182.1_Missense_Mutation_p.T179M			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	179	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)			CTGGCTGACCGTCTGGCGGCC	0.692																																						ENST00000377348.2																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(535-537)aCg>aTg		vacuolar protein sorting 28 homolog (S. cerevisiae)							50	59	56					8																	145649436		2203	4299	6502	SO:0001583	missense	51160				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding	g.chr8:145649436G>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.536C>T	8.37:g.145649436G>A	ENSP00000434064:p.Thr179Met		Somatic				VPS28_ENST00000526054.1_Missense_Mutation_p.T179M|VPS28_ENST00000529182.1_Missense_Mutation_p.T179M|VPS28_ENST00000292510.4_Missense_Mutation_p.T179M	p.T179M	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	625	-	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)		179			VPS28 C-terminal.		Q86VK0	Missense_Mutation	SNP	ENST00000526054.1	37	c.536C>T	CCDS6425.1	.	.	.	.	.	.	.	.	.	.	g	17.17	3.321919	0.60634	.	.	ENSG00000160948	ENST00000529182;ENST00000526054;ENST00000292510;ENST00000377348;ENST00000533806	.	.	.	5.11	4.17	0.49024	Vacuolar protein sorting-associated, VPS28, C-terminal (1);	0.153629	0.56097	D	0.000031	T	0.50939	0.1645	L	0.34521	1.04	0.39841	D	0.973114	D;P	0.63880	0.993;0.794	P;B	0.53549	0.729;0.271	T	0.55560	-0.8122	9	0.87932	D	0	.	10.1217	0.42625	0.0:0.0:0.7082:0.2918	.	179;179	Q9UK41-2;Q9UK41	.;VPS28_HUMAN	M	179;179;179;179;162	.	ENSP00000292510:T179M	T	-	2	0	VPS28	145620244	1.000000	0.71417	0.760000	0.31359	0.802000	0.45316	5.766000	0.68843	2.661000	0.90470	0.609000	0.83330	ACG		0.692	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382694.1			10	291	0	0	0	1	0	10	291					A	145649436	G	A	145649436	3	1	6	1	0	0	0	0	1	0	0	0	17214	1145	40	1	251	1	VPS28	8	145649436	Missense_Mutation	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08	77564667	145649436	714586	35	379										
FRMPD2	143162	broad.mit.edu	37	chr10	49395266	49395266	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	ctctgaacaggtggtccagaGagagagtcccaggtcattgg	14	9	2	3			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr10:49395266G>A	ENST00000374201.3	-	17	2537	c.2235C>T	c.(2233-2235)ctC>ctT	p.L745L	FRMPD2_ENST00000305531.3_Silent_p.L720L|FRMPD2_ENST00000407470.4_Silent_p.L713L	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	745					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)		GTGGTCCAGAGAGAGAGTCCC	0.562																																						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.(2233-2235)ctC>ctT		FERM and PDZ domain containing 2							80	70	73					10																	49395266		2203	4300	6503	SO:0001819	synonymous_variant	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49395266G>A	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.2235C>T	10.37:g.49395266G>A			Somatic				FRMPD2_ENST00000407470.4_Silent_p.L713L|FRMPD2_ENST00000305531.3_Silent_p.L720L	p.L745L	NM_001018071.3	NP_001018081.3	WXS	Illumina GAIIx	Phase_I	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	17	2537	-			745					B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	ENST00000374201.3	37	c.2235C>T	CCDS31195.1																																																																																				0.562	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		14	35	0	0	0	1	0	14	35					A	49395266	G	A	49395266	2	1	6	1	0	0	0	0	0	0	0	1	6066	929	33	3		3	FRMPD2	10	49395266	Silent	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08		49395266	86139481	36	380										
OGDHL	55753	broad.mit.edu	37	chr10	50959892	50959892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	cctcatggagcgcactagccGggccagcagggtccgcttct	13	15	2	0			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr10:50959892G>A	ENST00000374103.4	-	6	815	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	OGDHL_ENST00000432695.1_Missense_Mutation_p.R35W|OGDHL_ENST00000419399.1_Missense_Mutation_p.R187W	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	244					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R244R(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGCACTAGCCGGGCCAGCAGG	0.612																																						ENST00000374103.4																			1	Substitution - coding silent(1)	p.R244R(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(730-732)Cgg>Tgg		oxoglutarate dehydrogenase-like							90	92	91					10																	50959892		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50959892G>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.730C>T	10.37:g.50959892G>A	ENSP00000363216:p.Arg244Trp		Somatic				OGDHL_ENST00000432695.1_Missense_Mutation_p.R35W|OGDHL_ENST00000419399.1_Missense_Mutation_p.R187W	p.R244W	NM_018245.2	NP_060715.2	WXS	Illumina GAIIx	Phase_I	Q9ULD0	OGDHL_HUMAN			6	815	-			244					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.730C>T	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645684	0.67358	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.96265	-3.96;-3.96;-3.96	5.57	4.65	0.58169	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98779	0.9589	H	0.97611	4.04	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.99243	1.0885	10	0.87932	D	0	.	13.9519	0.64123	0.0:0.0:0.545:0.455	.	187;35;244	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	W	244;187;35	ENSP00000363216:R244W;ENSP00000401356:R187W;ENSP00000390240:R35W	ENSP00000363216:R244W	R	-	1	2	OGDHL	50629898	0.994000	0.37717	0.999000	0.59377	0.986000	0.74619	1.581000	0.36558	1.296000	0.44742	0.655000	0.94253	CGG		0.612	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		95	91	0	0	0	1	0	95	91					A	50959892	G	A	50959892	3	1	6	1	0	0	0	0	1	0	0	0	10849	1115	39	1	2374	1	OGDHL	10	50959892	Missense_Mutation	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08	1564626	50959892	84574855	37	381										
ARID5B	84159	broad.mit.edu	37	chr10	63852608	63852608	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	ctcgcttgtgatgcaaagagGaatttttacatcaccgacaa	8	9	1	2			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr10:63852608G>C	ENST00000279873.7	+	10	3796	c.3386G>C	c.(3385-3387)gGa>gCa	p.G1129A	ARID5B_ENST00000309334.5_Missense_Mutation_p.G886A	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1129					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)					ATGCAAAGAGGAATTTTTACA	0.478																																						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.(3385-3387)gGa>gCa		AT rich interactive domain 5B (MRF1-like)							114	117	116					10																	63852608		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.chr10:63852608G>C	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.3386G>C	10.37:g.63852608G>C	ENSP00000279873:p.Gly1129Ala		Somatic				ARID5B_ENST00000309334.5_Missense_Mutation_p.G886A	p.G1129A	NM_032199.2	NP_115575.1	WXS	Illumina GAIIx	Phase_I	Q14865	ARI5B_HUMAN			10	3796	+	Prostate(12;0.016)|all_hematologic(501;0.215)		1129					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.3386G>C	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353437	0.41700	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.45668	0.91;0.89	5.72	5.72	0.89469	.	0.208557	0.49916	D	0.000129	T	0.33323	0.0859	L	0.51422	1.61	0.38091	D	0.936979	P	0.46395	0.877	B	0.38106	0.265	T	0.36016	-0.9765	10	0.51188	T	0.08	-15.4297	7.48	0.27400	0.1973:0.0:0.8027:0.0	.	1129	Q14865	ARI5B_HUMAN	A	1129;886	ENSP00000279873:G1129A;ENSP00000308862:G886A	ENSP00000279873:G1129A	G	+	2	0	ARID5B	63522614	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.236000	0.78154	2.702000	0.92279	0.655000	0.94253	GGA		0.478	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		6	143	0	0	0	1	0	6	143					C	63852608	G	C	63852608	3	2	6	1	0	0	0	0	1	0	0	0	922	1174	41	2	3424	2	ARID5B	10	63852608	Missense_Mutation	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08	12892716	63852608	71682139	38	382										
LRIT1	26103	broad.mit.edu	37	chr10	86001097	86001097	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	gccttgctgccatcacccatGatatggaggctgcagctgca	11	13	1	1			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr10:86001097G>C	ENST00000372105.3	-	1	120	c.99C>G	c.(97-99)atC>atG	p.I33M		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	33	LRRNT.					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						CATCACCCATGATATGGAGGC	0.642																																						ENST00000372105.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(97-99)atC>atG		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1							33	34	34					10																	86001097		2203	4298	6501	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:86001097G>C	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.99C>G	10.37:g.86001097G>C	ENSP00000361177:p.Ile33Met		Somatic					p.I33M	NM_015613.2	NP_056428.1	WXS	Illumina GAIIx	Phase_I	Q9P2V4	LRIT1_HUMAN			1	120	-			33			LRRNT.		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.99C>G	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	G	7.818	0.717178	0.15372	.	.	ENSG00000148602	ENST00000372105	T	0.36878	1.23	4.31	3.4	0.38934	Leucine-rich repeat-containing N-terminal (1);	0.376195	0.29233	N	0.012747	T	0.20292	0.0488	N	0.22421	0.69	0.22842	N	0.998666	B	0.16396	0.017	B	0.14578	0.011	T	0.11036	-1.0604	10	0.34782	T	0.22	.	4.3569	0.11183	0.2005:0.2391:0.5604:0.0	.	33	Q9P2V4	LRIT1_HUMAN	M	33	ENSP00000361177:I33M	ENSP00000361177:I33M	I	-	3	3	LRIT1	85991077	1.000000	0.71417	0.998000	0.56505	0.786000	0.44442	1.471000	0.35365	0.997000	0.38969	0.491000	0.48974	ATC		0.642	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		6	64	0	0	0	1	0	6	64					C	86001097	G	C	86001097	3	2	6	1	0	0	0	0	1	0	0	0	8956	1280	45	2	1788	2	LRIT1	10	86001097	Missense_Mutation	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08	22148489	86001097	49533650	39	383										
MUC2	4583	broad.mit.edu	37	chr11	1093292	1093292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	atcgacacccatcaccaccaCcactacggtgaccccaaccc	4	21	1	1			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr11:1093292C>T	ENST00000441003.2	+	30	5138	c.5111C>T	c.(5110-5112)aCc>aTc	p.T1704I	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1671I	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	atcaccaccaccactacggtg	0.637																																						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.(5110-5112)aCc>aTc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						107	156	138					11																	1093292		1878	3453	5331	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1093292C>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.5111C>T	11.37:g.1093292C>T	ENSP00000415183:p.Thr1704Ile		Somatic				MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1671I	p.T1704I	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)	30	5138	+		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)	1695			Approximate repeats.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.5111C>T		.	.	.	.	.	.	.	.	.	.	C	2.150	-0.394632	0.04899	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.11063	2.81;2.84	1.6	-2.66	0.06077	.	2.760050	0.04005	U	0.297091	T	0.06416	0.0165	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.36286	-0.9754	9	0.36615	T	0.2	.	2.477	0.04578	0.4942:0.3128:0.0:0.1931	.	1704	E7EUV1	.	I	1704;1671	ENSP00000415183:T1704I;ENSP00000351956:T1671I	ENSP00000351956:T1671I	T	+	2	0	MUC2	1083292	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.330000	0.19715	-0.514000	0.06488	0.184000	0.17185	ACC		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		4	20	0	0	0	1	0	4	20					T	1093292	C	T	1093292	3	4	6	1	0	0	0	0	1	0	0	0	9984	507	18	3	5229	3	MUC2	11	1093292	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08		1093292	133913224	40	384										
OR5L2	26338	broad.mit.edu	37	chr11	55595238	55595238	+	Frame_Shift_Del	DEL	C	C	-													0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	accacttcttctgtgatctaCcccctctcctaagtcttgct							TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr11:55595238delC	ENST00000378397.1	+	1	544	c.544delC	c.(544-546)cccfs	p.P183fs		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	183						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)				CTGTGATCTACCCCCTCTCCT	0.453										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.(544-546)ccfs		olfactory receptor, family 5, subfamily L, member 2							244	220	228					11																	55595238		2200	4296	6496	SO:0001589	frameshift_variant	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595238delC	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.544delC	11.37:g.55595238delC	ENSP00000367650:p.Pro183fs	HNSCC(27;0.073)	Somatic					p.P183fs	NM_001004739.1	NP_001004739.1	WXS	Illumina GAIIx	Phase_I	Q8NGL0	OR5L2_HUMAN			1	544	+		all_epithelial(135;0.208)	183					Q6IF66|Q96RB2	Frame_Shift_Del	DEL	ENST00000378397.1	37	c.544delC	CCDS31511.1																																																																																				0.453	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		119	187						119	187	---	---	---	---	-	55595238	C	-	55595238	7	5	6	1	0	1	0	1	0	0	0	0	11180	507	18	0	546	0	OR5L2	11	55595238	Frame_Shift_Del	DEL	C	TCGA-N5-A4RM-01A-11D-A28R-08	54501946	55595238	79411278	41	385										
OTUB1	55611	broad.mit.edu	37	chr11	63764986	63764986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	ccaaggtctaccttctctacCggcctggacactacgatatc	7	15	2	0			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr11:63764986C>T	ENST00000538426.1	+	7	828	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	OTUB1_ENST00000543004.1_Missense_Mutation_p.R271W|OTUB1_ENST00000535715.1_Intron|OTUB1_ENST00000543988.1_Missense_Mutation_p.R232W|OTUB1_ENST00000541478.1_Missense_Mutation_p.R161W|OTUB1_ENST00000428192.2_Missense_Mutation_p.R262W|OTUB1_ENST00000422031.2_Missense_Mutation_p.R299W	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	262	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						CCTTCTCTACCGGCCTGGACA	0.617																																						ENST00000541478.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						c.(481-483)Cgg>Tgg		OTU domain, ubiquitin aldehyde binding 1							91	89	90					11																	63764986		2201	4297	6498	SO:0001583	missense	55611				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity	g.chr11:63764986C>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.784C>T	11.37:g.63764986C>T	ENSP00000444357:p.Arg262Trp		Somatic				OTUB1_ENST00000428192.2_Missense_Mutation_p.R262W|OTUB1_ENST00000543988.1_Missense_Mutation_p.R232W|OTUB1_ENST00000422031.2_Missense_Mutation_p.R299W|OTUB1_ENST00000535715.1_Intron|OTUB1_ENST00000543004.1_Missense_Mutation_p.R271W|OTUB1_ENST00000538426.1_Missense_Mutation_p.R262W	p.R161W			WXS	Illumina GAIIx	Phase_I	Q96FW1	OTUB1_HUMAN			4	941	+			262			OTU.		Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Missense_Mutation	SNP	ENST00000538426.1	37	c.481C>T	CCDS8055.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209709	0.79240	.	.	ENSG00000167770	ENST00000541478;ENST00000428192;ENST00000422031;ENST00000538426;ENST00000543004;ENST00000543988	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.17	4.14	0.48551	Ovarian tumour, otubain (1);	0.057052	0.64402	N	0.000003	T	0.74458	0.3719	M	0.93197	3.39	0.51482	D	0.99992	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	0.80783	-0.1228	10	0.87932	D	0	.	12.5249	0.56081	0.2271:0.7729:0.0:0.0	.	299;161;306;262	B4DPD5;F5H3F0;Q96FW1-2;Q96FW1	.;.;.;OTUB1_HUMAN	W	161;262;299;262;271;232	ENSP00000439142:R161W;ENSP00000402551:R262W;ENSP00000416973:R299W;ENSP00000444357:R262W;ENSP00000437453:R271W;ENSP00000441328:R232W	ENSP00000416973:R299W	R	+	1	2	OTUB1	63521562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.343000	0.33930	2.583000	0.87209	0.462000	0.41574	CGG		0.617	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396277.1	NM_017670		58	109	0	0	0	1	0	58	109					T	63764986	C	T	63764986	3	4	6	1	0	0	0	0	1	0	0	0	11320	643	23	1	810	1	OTUB1	11	63764986	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08	8169748	63764986	71241530	42	386										
CCDC88B	283234	broad.mit.edu	37	chr11	64112227	64112227	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	gaggaggtggcacagttgagGagaaaggctgaggcccttgg	19	6	0	3			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr11:64112227G>A	ENST00000356786.5	+	14	2258	c.2214G>A	c.(2212-2214)agG>agA	p.R738R	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	738						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CACAGTTGAGGAGAAAGGCTG	0.652																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2212-2214)agG>agA		coiled-coil domain containing 88B							49	57	55					11																	64112227		2199	4297	6496	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64112227G>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2214G>A	11.37:g.64112227G>A			Somatic				CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	p.R738R	NM_032251.5	NP_115627.6	WXS	Illumina GAIIx	Phase_I	A6NC98	CC88B_HUMAN			14	2258	+			738					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.2214G>A	CCDS8072.2																																																																																				0.652	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		4	37	0	0	0	1	0	4	37					A	64112227	G	A	64112227	2	1	6	1	0	0	0	0	0	0	0	1	2866	1165	41	3		3	CCDC88B	11	64112227	Silent	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08	347241	64112227	70894289	43	387										
FDX1	2230	broad.mit.edu	37	chr11	110327746	110327746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	atgaggagaatgacatgctcGatctggcatatggactaaca	11	7	1	3	rs368983211		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr11:110327746G>A	ENST00000260270.2	+	3	653	c.415G>A	c.(415-417)Gat>Aat	p.D139N		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	139	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				cholesterol metabolic process (GO:0008203)|hormone biosynthetic process (GO:0042446)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	TGACATGCTCGATCTGGCATA	0.383																																						ENST00000260270.2																			0				lung(2)	2						c.(415-417)Gat>Aat		ferredoxin 1	Mitotane(DB00648)						209	186	194					11																	110327746		2201	4298	6499	SO:0001583	missense	2230				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding	g.chr11:110327746G>A	M23668	CCDS8344.1	11q22.3	2008-02-01			ENSG00000137714	ENSG00000137714			3638	protein-coding gene	gene with protein product	"adrenodoxin"	103260		FDX		2969697	Standard	NM_004109		Approved	ADX	uc001pkx.3	P10109	OTTHUMG00000166589	ENST00000260270.2:c.415G>A	11.37:g.110327746G>A	ENSP00000260270:p.Asp139Asn		Somatic					p.D139N	NM_004109.4	NP_004100.1	WXS	Illumina GAIIx	Phase_I	P10109	ADX_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	3	653	+		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	139			2Fe-2S ferredoxin-type.		B0YJ14|Q53YD6	Missense_Mutation	SNP	ENST00000260270.2	37	c.415G>A	CCDS8344.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446310	0.84101	.	.	ENSG00000137714	ENST00000260270	.	.	.	5.46	5.46	0.80206	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.000000	0.85682	D	0.000000	D	0.86644	0.5982	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89616	0.3845	9	0.87932	D	0	-25.3722	18.9153	0.92503	0.0:0.0:1.0:0.0	.	139	P10109	ADX_HUMAN	N	139	.	ENSP00000260270:D139N	D	+	1	0	FDX1	109832956	1.000000	0.71417	0.999000	0.59377	0.398000	0.30690	9.473000	0.97714	2.567000	0.86603	0.561000	0.74099	GAT		0.383	FDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390590.1	NM_004109		10	80	0	0	0	1	0	10	80					A	110327746	G	A	110327746	3	1	6	1	0	0	0	0	1	0	0	0	5812	1058	37	1	425	1	FDX1	11	110327746	Missense_Mutation	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08	46215519	110327746	24678770	44	388										
C1RL	51279	broad.mit.edu	37	chr12	7249404	7249404	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	aggacgttggggcccaggggGatgctgtgctgcagctccag	18	10	0	0			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:7249404G>A	ENST00000266542.4	-	6	1139	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	349	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			I -> M (in Ref. 3; BAD96522). {ECO:0000305}.	complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCCCAGGGGGATGCTGTGCT	0.612																																						ENST00000266542.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1045-1047)atC>atT		complement component 1, r subcomponent-like							93	77	82					12																	7249404		2203	4300	6503	SO:0001819	synonymous_variant	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7249404G>A	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.1047C>T	12.37:g.7249404G>A			Somatic				C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron	p.I349I	NM_016546.2	NP_057630.2	WXS	Illumina GAIIx	Phase_I	Q9NZP8	C1RL_HUMAN			6	1139	-			349	I -> M (in Ref. 3; BAD96522).		Peptidase S1.		Q53GX9	Silent	SNP	ENST00000266542.4	37	c.1047C>T	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	G	0.111	-1.138366	0.01742	.	.	ENSG00000139178	ENST00000534950	.	.	.	4.98	-4.11	0.03928	.	.	.	.	.	T	0.51702	0.1690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51060	-0.8753	4	.	.	.	.	9.0553	0.36401	0.1351:0.6123:0.1588:0.0938	.	.	.	.	S	182	.	.	P	-	1	0	C1RL	7140546	0.000000	0.05858	0.001000	0.08648	0.122000	0.20287	-2.267000	0.01170	-0.651000	0.05415	-0.416000	0.06073	CCC		0.612	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		5	71	0	0	0	1	0	5	71					A	7249404	G	A	7249404	2	1	6	1	0	0	0	0	0	0	0	1	1975	1164	41	3		3	C1RL	12	7249404	Silent	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08		7249404	126602491	45	389										
KRT72	140807	broad.mit.edu	37	chr12	52985408	52985408	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	tgtgggactggatctgagtgAtctcctggggacggttgggg	19	6	2	2			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:52985408A>C	ENST00000537672.2	-	5	813	c.803T>G	c.(802-804)aTc>aGc	p.I268S	KRT72_ENST00000354310.4_Missense_Mutation_p.I268S|KRT72_ENST00000293745.2_Missense_Mutation_p.I268S|KRT72_ENST00000398066.3_Missense_Mutation_p.I80S	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	268	Coil 1B.|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)		GATCTGAGTGATCTCCTGGGG	0.577																																						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.(802-804)aTc>aGc		keratin 72							128	112	117					12																	52985408		2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52985408A>C	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.803T>G	12.37:g.52985408A>C	ENSP00000441160:p.Ile268Ser		Somatic				KRT72_ENST00000354310.4_Missense_Mutation_p.I268S|KRT72_ENST00000398066.3_Missense_Mutation_p.I80S|KRT72_ENST00000537672.2_Missense_Mutation_p.I268S	p.I268S	NM_080747.2	NP_542785.1	WXS	Illumina GAIIx	Phase_I	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	5	888	-			268			Coil 1B.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.803T>G	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.681601	0.47991	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	4.33	4.33	0.51752	Filament (1);	0.000000	0.53938	D	0.000060	D	0.93455	0.7912	M	0.90705	3.14	0.46542	D	0.999097	B;B	0.27068	0.167;0.167	B;B	0.38327	0.271;0.271	D	0.93979	0.7256	10	0.87932	D	0	.	14.5624	0.68151	1.0:0.0:0.0:0.0	.	268;268	B4DEI8;Q14CN4	.;K2C72_HUMAN	S	268;268;268;80	ENSP00000441160:I268S;ENSP00000293745:I268S;ENSP00000346269:I268S;ENSP00000446151:I80S	ENSP00000293745:I268S	I	-	2	0	KRT72	51271675	1.000000	0.71417	0.942000	0.38095	0.470000	0.32858	8.905000	0.92613	2.192000	0.70111	0.533000	0.62120	ATC		0.577	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		14	88	0	0	0	1	0	14	88					C	52985408	A	C	52985408	3	2	6	1	0	0	0	0	1	0	0	0	8494	333	12	4	752	4	KRT72	12	52985408	Missense_Mutation	SNP	A	TCGA-N5-A4RM-01A-11D-A28R-08	45736004	52985408	80866487	46	390										
OR6C2	341416	broad.mit.edu	37	chr12	55846759	55846759	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	attgcctatggaagctgcatCttcatctatatcaagccctc	6	12	4	0			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:55846759C>G	ENST00000322678.1	+	1	762	c.762C>G	c.(760-762)atC>atG	p.I254M	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	254					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GAAGCTGCATCTTCATCTATA	0.423																																						ENST00000322678.1																			0				kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						c.(760-762)atC>atG		olfactory receptor, family 6, subfamily C, member 2							122	121	121					12																	55846759		2203	4299	6502	SO:0001583	missense	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846759C>G	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"GPCR / Class A : Olfactory receptors"	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.762C>G	12.37:g.55846759C>G	ENSP00000323606:p.Ile254Met		Somatic				RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	p.I254M	NM_054105.1	NP_473446.1	WXS	Illumina GAIIx	Phase_I	Q9NZP2	OR6C2_HUMAN			1	762	+			254						Missense_Mutation	SNP	ENST00000322678.1	37	c.762C>G	CCDS31824.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774851	0.31411	.	.	ENSG00000179695	ENST00000322678	T	0.40756	1.02	5.42	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000011	T	0.50017	0.1591	L	0.53249	1.67	0.31891	N	0.617164	D	0.61080	0.989	D	0.63283	0.913	T	0.57613	-0.7781	10	0.54805	T	0.06	.	4.7744	0.13171	0.0:0.5945:0.1573:0.2482	.	254	Q9NZP2	OR6C2_HUMAN	M	254	ENSP00000323606:I254M	ENSP00000323606:I254M	I	+	3	3	OR6C2	54133026	0.000000	0.05858	1.000000	0.80357	0.166000	0.22503	-0.264000	0.08658	0.868000	0.35678	0.609000	0.83330	ATC		0.423	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		26	69	0	0	0	1	0	26	69					G	55846759	C	G	55846759	3	3	6	1	0	0	0	0	1	0	0	0	11200	903	32	2	764	2	OR6C2	12	55846759	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08	2861351	55846759	78005136	47	391										
LRP1	4035	broad.mit.edu	37	chr12	57589461	57589461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	tgtacaacagcacttgtgacGaccgtgagttcatgtgccag	11	10	1	2			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:57589461G>A	ENST00000243077.3	+	53	8924	c.8458G>A	c.(8458-8460)Gac>Aac	p.D2820N	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2820	LDL-receptor class A 18. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACTTGTGACGACCGTGAGTT	0.602																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(8458-8460)Gac>Aac		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						124	109	114					12																	57589461		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.chr12:57589461G>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.8458G>A	12.37:g.57589461G>A	ENSP00000243077:p.Asp2820Asn		Somatic					p.D2820N	NM_002332.2	NP_002323.2	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	53	8924	+			2820			LDL-receptor class A 18.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.8458G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655328	0.29425	.	.	ENSG00000123384	ENST00000243077	D	0.95205	-3.64	4.95	4.95	0.65309	.	0.439678	0.21658	N	0.071070	D	0.88930	0.6571	L	0.31752	0.955	0.80722	D	1	P	0.38048	0.616	B	0.28849	0.095	D	0.87786	0.2615	10	0.21540	T	0.41	.	17.1132	0.86681	0.0:0.0:1.0:0.0	.	2820	Q07954	LRP1_HUMAN	N	2820	ENSP00000243077:D2820N	ENSP00000243077:D2820N	D	+	1	0	LRP1	55875728	0.737000	0.28175	0.331000	0.25455	0.278000	0.26855	3.210000	0.51129	2.562000	0.86427	0.561000	0.74099	GAC		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		38	40	0	0	0	1	0	38	40					A	57589461	G	A	57589461	3	1	6	1	0	0	0	0	1	0	0	0	8960	1058	37	1	8668	1	LRP1	12	57589461	Missense_Mutation	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08	1742702	57589461	76262434	48	392										
NOC4L	79050	broad.mit.edu	37	chr12	132633385	132633385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	gtgcatgacgccatcctgccGcagctggcgcagcccacgct	12	17	0	1	rs144597773		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:132633385G>A	ENST00000330579.1	+	9	887	c.846G>A	c.(844-846)ccG>ccA	p.P282P	NOC4L_ENST00000538784.1_5'Flank|NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	282					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CCATCCTGCCGCAGCTGGCGC	0.701																																						ENST00000330579.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14						c.(844-846)ccG>ccA		nucleolar complex associated 4 homolog (S. cerevisiae)				2,4374		0,2,2186	29	25	26		846	-10.9	0.2	12	dbSNP_134	26	0,8580		0,0,4290	no	coding-synonymous	NOC4L	NM_024078.1		0,2,6476	AA,AG,GG		0.0,0.0457,0.0154		282/517	132633385	2,12954	2188	4290	6478	SO:0001819	synonymous_variant	79050				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr12:132633385G>A		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.846G>A	12.37:g.132633385G>A			Somatic				NOC4L_ENST00000535343.1_3'UTR	p.P282P	NM_024078.1	NP_076983.1	WXS	Illumina GAIIx	Phase_I	Q9BVI4	NOC4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)	9	887	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		282					Q8N2S5|Q96I14	Silent	SNP	ENST00000330579.1	37	c.846G>A	CCDS9277.1																																																																																				0.701	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398999.1	NM_024078		19	17	0	0	0	1	0	19	17					A	132633385	G	A	132633385	2	1	6	1	0	0	0	0	0	0	0	1	10524	1074	38	1		1	NOC4L	12	132633385	Silent	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08	75043924	132633385	1218510	49	393										
WASF3	10810	broad.mit.edu	37	chr13	27257060	27257060	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	cgaagcggcaagagcctgcaCagccaccaatcagtgatgct	11	13	1	2			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr13:27257060C>T	ENST00000335327.5	+	9	1478	c.1300C>T	c.(1300-1302)Cag>Tag	p.Q434*	WASF3_ENST00000361042.4_Nonsense_Mutation_p.Q431*	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	434					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)				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)		AGAGCCTGCACAGCCACCAAT	0.612																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(1291-1293)Cag>Tag		WAS protein family, member 3							69	79	76					13																	27257060		2202	4294	6496	SO:0001587	stop_gained	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27257060C>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.1300C>T	13.37:g.27257060C>T	ENSP00000335055:p.Gln434*		Somatic				WASF3_ENST00000335327.5_Nonsense_Mutation_p.Q434*	p.Q431*			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	1516	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	434					O94974|Q86VQ2	Nonsense_Mutation	SNP	ENST00000335327.5	37	c.1291C>T	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	C	36	5.598245	0.96614	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	.	.	.	5.34	5.34	0.76211	.	0.404147	0.28977	N	0.013534	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-27.3931	19.0281	0.92941	0.0:1.0:0.0:0.0	.	.	.	.	X	431;434	.	ENSP00000335055:Q434X	Q	+	1	0	WASF3	26155060	0.999000	0.42202	0.950000	0.38849	0.200000	0.23975	4.154000	0.58125	2.480000	0.83734	0.491000	0.48974	CAG		0.612	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			5	135	0	0	0	1	0	5	135					T	27257060	C	T	27257060	4	4	6	1	0	0	0	0	0	1	0	0	17269	479	17	3	1326	3	WASF3	13	27257060	Nonsense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08		27257060	87912818	50	394										
OR4K1	79544	broad.mit.edu	37	chr14	20404416	20404416	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	gatacatatgaaatggaaatTatgaccctaacgaacagtgg	9	6	0	2	rs373364499		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr14:20404416T>C	ENST00000285600.4	+	1	650	c.591T>C	c.(589-591)atT>atC	p.I197I		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, 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)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAATGGAAATTATGACCCTAA	0.453																																						ENST00000285600.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(589-591)atT>atC		olfactory receptor, family 4, subfamily K, member 1		T		1,4405		0,1,2202	158	161	160		591	-0.8	0	14		160	0,8600		0,0,4300	no	coding-synonymous	OR4K1	NM_001004063.2		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		197/312	20404416	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404416T>C		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.591T>C	14.37:g.20404416T>C			Somatic					p.I197I	NM_001004063.2	NP_001004063.2	WXS	Illumina GAIIx	Phase_I	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	650	+	all_cancers(95;0.00108)		197					B9EKV9|Q8NGD6|Q96R73	Silent	SNP	ENST00000285600.4	37	c.591T>C	CCDS32025.1																																																																																				0.453	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			3	38	0	0	0	1	0	3	38					C	20404416	T	C	20404416	2	2	6	1	0	0	0	0	0	0	0	1	11076	1742	61	4		4	OR4K1	14	20404416	Silent	SNP	T	TCGA-N5-A4RM-01A-11D-A28R-08		20404416	86945124	51	395										
AHNAK2	113146	broad.mit.edu	37	chr14	105418191	105418191	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	aggtccccctgcatggagggGagactcacgtcggcctccac	13	15	1	1			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr14:105418191G>A	ENST00000333244.5	-	7	3716	c.3597C>T	c.(3595-3597)ctC>ctT	p.L1199L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1199						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)			GCATGGAGGGGAGACTCACGT	0.632																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3595-3597)ctC>ctT		AHNAK nucleoprotein 2							128	113	118					14																	105418191		1954	4108	6062	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418191G>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.3597C>T	14.37:g.105418191G>A			Somatic				AHNAK2_ENST00000557457.1_Intron	p.L1199L	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	3716	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1199					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.3597C>T	CCDS45177.1																																																																																				0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	484	0	0	0	1	0	6	484					A	105418191	G	A	105418191	2	1	6	1	0	0	0	0	0	0	0	1	415	1161	41	3		3	AHNAK2	14	105418191	Silent	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08	85013775	105418191	1931349	52	396										
MAN2C1	4123	broad.mit.edu	37	chr15	75654730	75654730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	gcacaaactgcccacggcacGcaaactcctggatgcgggag	12	14	0	0	rs199696370		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr15:75654730G>A	ENST00000267978.5	-	8	1008	c.962C>T	c.(961-963)gCg>gTg	p.A321V	MAN2C1_ENST00000563622.1_Missense_Mutation_p.A222V|MAN2C1_ENST00000569482.1_Missense_Mutation_p.A321V|MAN2C1_ENST00000563539.1_5'Flank|MAN2C1_ENST00000565683.1_Missense_Mutation_p.A321V	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	321					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						CCCACGGCACGCAAACTCCTG	0.612																																						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.(961-963)gCg>gTg		mannosidase, alpha, class 2C, member 1							50	45	47					15																	75654730		2197	4293	6490	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75654730G>A	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.962C>T	15.37:g.75654730G>A	ENSP00000267978:p.Ala321Val		Somatic				MAN2C1_ENST00000563622.1_Missense_Mutation_p.A222V|MAN2C1_ENST00000267978.5_Missense_Mutation_p.A321V|MAN2C1_ENST00000569482.1_Missense_Mutation_p.A321V	p.A321V	NM_001256494.1	NP_001243423.1	WXS	Illumina GAIIx	Phase_I	Q9NTJ4	MA2C1_HUMAN			8	973	-			321					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.962C>T	CCDS32298.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	3.778	-0.046156	0.07407	.	.	ENSG00000140400	ENST00000267978	T	0.63255	-0.03	5.45	3.34	0.38264	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.189941	0.45361	D	0.000371	T	0.21509	0.0518	N	0.00583	-1.355	0.34698	D	0.726402	B;B;B	0.26318	0.146;0.064;0.124	B;B;B	0.31495	0.131;0.037;0.038	T	0.40572	-0.9556	10	0.02654	T	1	-13.6192	4.2116	0.10514	0.4468:0.0:0.5532:0.0	.	103;321;321	B4DVP6;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	V	321	ENSP00000267978:A321V	ENSP00000267978:A321V	A	-	2	0	MAN2C1	73441783	0.896000	0.30565	0.970000	0.41538	0.315000	0.28087	2.006000	0.40874	1.299000	0.44798	0.561000	0.74099	GCG		0.612	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			4	31	0	0	0	1	0	4	31					A	75654730	G	A	75654730	3	1	6	1	0	0	0	0	1	0	0	0	9227	1087	38	1	2236	1	MAN2C1	15	75654730	Missense_Mutation	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08		75654730	26876662	53	397										
GRIN2A	2903	broad.mit.edu	37	chr16	9934842	9934842	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	taactttcttgccatgcttcCcattggtcaccagatagagg	8	11	2	2			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr16:9934842C>A	ENST00000396573.2	-	7	1757	c.1448G>T	c.(1447-1449)gGg>gTg	p.G483V	GRIN2A_ENST00000404927.2_Missense_Mutation_p.G483V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G483V|GRIN2A_ENST00000330684.3_Missense_Mutation_p.G483V|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G326V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G483V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	483			G -> R (in FESD; unknown pathological significance). {ECO:0000269|PubMed:23933820}.		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)	GCCATGCTTCCCATTGGTCAC	0.428																																						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.(1447-1449)gGg>gTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						184	156	165					16																	9934842		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9934842C>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.1448G>T	16.37:g.9934842C>A	ENSP00000379818:p.Gly483Val		Somatic				GRIN2A_ENST00000330684.3_Missense_Mutation_p.G483V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G483V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G483V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G483V|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G326V	p.G483V	NM_000833.3	NP_000824.1	WXS	Illumina GAIIx	Phase_I	Q12879	NMDE1_HUMAN			7	1757	-			483					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1448G>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832715	0.91036	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	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	0.79811	0.4510	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.998;1.0	D	0.84864	0.0821	9	.	.	.	.	17.9959	0.89184	0.0:1.0:0.0:0.0	.	326;483;483	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	V	483;483;326;483;483	ENSP00000379818:G483V;ENSP00000385872:G483V;ENSP00000441572:G326V;ENSP00000332549:G483V;ENSP00000379820:G483V	.	G	-	2	0	GRIN2A	9842343	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.637000	0.83313	2.481000	0.83766	0.561000	0.74099	GGG		0.428	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			37	109	1	0	5.43694e-19	1	6.15816e-19	37	109					A	9934842	C	A	9934842	3	1	6	1	0	0	0	0	1	0	0	0	6788	623	22	5	2978	5	GRIN2A	16	9934842	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08		9934842	80419911	54	398										
ITGAE	3682	broad.mit.edu	37	chr17	3638132	3638132	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	ttttgcatcctcttcaactgCaggtttctggggtaattcaa	8	9	4	0	rs369021824		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr17:3638132C>T	ENST00000263087.4	-	21	2732	c.2634G>A	c.(2632-2634)ctG>ctA	p.L878L	ITGAE_ENST00000571185.1_5'UTR	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	878					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TCTTCAACTGCAGGTTTCTGG	0.542																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(2632-2634)ctG>ctA		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							257	239	245					17																	3638132		2203	4300	6503	SO:0001819	synonymous_variant	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3638132C>T	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2634G>A	17.37:g.3638132C>T			Somatic				ITGAE_ENST00000571185.1_5'UTR	p.L878L	NM_002208.4	NP_002199.3	WXS	Illumina GAIIx	Phase_I	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	21	2732	-			878					Q17RS6|Q9NZU9	Silent	SNP	ENST00000263087.4	37	c.2634G>A	CCDS32531.1																																																																																				0.542	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		114	17	0	0	0	1	0	114	17					T	3638132	C	T	3638132	2	4	6	1	0	0	0	0	0	0	0	1	7894	697	25	3		3	ITGAE	17	3638132	Silent	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08		3638132	77557078	55	399										
TP53	7157	broad.mit.edu	37	chr17	7577550	7577550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	tgggcctccggttcatgccgCccatgcaggaactgttacac	11	14	1	0	rs397516437		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr17:7577550C>T	ENST00000269305.4	-	7	920	c.731G>A	c.(730-732)gGc>gAc	p.G244D	TP53_ENST00000445888.2_Missense_Mutation_p.G244D|TP53_ENST00000359597.4_Missense_Mutation_p.G244D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G244D|TP53_ENST00000420246.2_Missense_Mutation_p.G244D|TP53_ENST00000413465.2_Missense_Mutation_p.G244D	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	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (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.G244D(47)|p.G244V(14)|p.G244A(9)|p.0?(8)|p.?(5)|p.G151D(4)|p.G244fs*4(3)|p.G244_M246>V(3)|p.G244fs*19(1)|p.G151_M153>V(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(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)	GTTCATGCCGCCCATGCAGGA	0.577		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"		104	Substitution - Missense(75)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Insertion - Frameshift(4)|Deletion - Frameshift(4)|Deletion - In frame(3)	p.G244D(47)|p.G244V(14)|p.G244A(9)|p.0?(8)|p.?(5)|p.G151D(4)|p.G244fs*4(3)|p.G244_M246>V(3)|p.G244fs*19(1)|p.G151_M153>V(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)	large_intestine(21)|liver(16)|haematopoietic_and_lymphoid_tissue(9)|ovary(9)|stomach(7)|breast(7)|lung(7)|biliary_tract(6)|upper_aerodigestive_tract(4)|urinary_tract(4)|bone(4)|central_nervous_system(3)|oesophagus(2)|cervix(1)|vulva(1)|endometrium(1)|salivary_gland(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	GRCh37	CM056069|CM070298	TP53	M	rs28934572	c.(730-732)gGc>gAc	Other conserved DNA damage response genes	tumor protein p53							148	111	124					17																	7577550		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.chr17:7577550C>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.731G>A	17.37:g.7577550C>T	ENSP00000269305:p.Gly244Asp	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.G244D|TP53_ENST00000413465.2_Missense_Mutation_p.G244D|TP53_ENST00000455263.2_Missense_Mutation_p.G244D|TP53_ENST00000445888.2_Missense_Mutation_p.G244D|TP53_ENST00000359597.4_Missense_Mutation_p.G244D	p.G244D	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	863	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	244		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.731G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842901	0.91197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99894	0.9949	M	0.90759	3.145	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;1.0;1.0;1.0;1.0	D	0.96044	0.9026	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934572	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244D;ENSP00000352610:G244D;ENSP00000269305:G244D;ENSP00000398846:G244D;ENSP00000391127:G244D;ENSP00000391478:G244D;ENSP00000425104:G112D;ENSP00000423862:G151D	ENSP00000269305:G244D	G	-	2	0	TP53	7518275	1.000000	0.71417	0.965000	0.40720	0.979000	0.70002	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		54	2	0	0	0	1	0	54	2					T	7577550	C	T	7577550	3	4	6	1	0	0	0	0	1	0	0	0	16396	739	26	3	559	3	TP53	17	7577550	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08	3939418	7577550	73617660	56	400										
DNAH17	8632	broad.mit.edu	37	chr17	76570856	76570856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	tgatgtcgccgtaaaggagcCgggccctgtagttgtccttg	14	10	0	1			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr17:76570856C>T	ENST00000585328.1	-	2	408	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	DNAH17_ENST00000389840.5_Missense_Mutation_p.R95Q	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	95	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)			GTAAAGGAGCCGGGCCCTGTA	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.(283-285)cGg>cAg		dynein, axonemal, heavy chain 17							145	153	151					17																	76570856		2063	4203	6266	SO:0001583	missense	8632							g.chr17:76570856C>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.284G>A	17.37:g.76570856C>T	ENSP00000465516:p.Arg95Gln		Somatic				DNAH17_ENST00000585328.1_Missense_Mutation_p.R95Q	p.R95Q			WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		2	408	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.284G>A		.	.	.	.	.	.	.	.	.	.	C	0.701	-0.790901	0.02884	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.21932	1.98	4.81	-8.46	0.00942	.	.	.	.	.	T	0.06690	0.0171	N	0.11927	0.2	0.09310	N	1	.	.	.	.	.	.	T	0.33879	-0.9851	7	0.11794	T	0.64	.	3.6043	0.08037	0.0864:0.2919:0.1709:0.4509	.	.	.	.	Q	95	ENSP00000374490:R95Q	ENSP00000300671:R95Q	R	-	2	0	DNAH17	74082451	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-6.008000	0.00086	-1.170000	0.02769	-0.244000	0.11960	CGG		0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		5	161	0	0	0	1	0	5	161					T	76570856	C	T	76570856	3	4	6	1	0	0	0	0	1	0	0	0	4603	652	23	1	13424	1	DNAH17	17	76570856	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08	68993306	76570856	4624354	57	401										
MAST1	22983	broad.mit.edu	37	chr19	12975741	12975743	+	In_Frame_Del	DEL	CCG	CCG	-													0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	cacaactatggcatcgtgcaCcgcgacctcaagcctgacaa					rs146244031	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr19:12975741_12975743delCCG	ENST00000251472.4	+	13	1524_1526	c.1485_1487delCCG	c.(1483-1488)caccgc>cac	p.R496del		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						GCATCGTGCACCGCGACCTCAAG	0.567																																						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.(1483-1488)cac>ca		microtubule associated serine/threonine kinase 1																																				SO:0001651	inframe_deletion	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12975741_12975743delCCG	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.1485_1487delCCG	19.37:g.12975741_12975743delCCG	ENSP00000251472:p.Arg496del		Somatic					p.HR495del	NM_014975.2	NP_055790.1	WXS	Illumina GAIIx	Phase_I	Q9Y2H9	MAST1_HUMAN			13	1524_1526	+			495			Protein kinase.			In_Frame_Del	DEL	ENST00000251472.4	37	c.1485_1487delCCG	CCDS32921.1																																																																																				0.567	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		66	12						66	12	---	---	---	---	-	12975743	CCG	-	12975741	7	5	6	1	0	1	0	1	0	0	0	0	9333	506	18	0	1535	0	MAST1	19	12975741	In_Frame_Del	DEL	CCG	TCGA-N5-A4RM-01A-11D-A28R-08		12975741	46153242	58	402										
ZNF230	7773	broad.mit.edu	37	chr19	44515243	44515243	+	Frame_Shift_Del	DEL	T	T	-													0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	cttcagatggtcctcatatcTtttgatccatcagcgaatcc							TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr19:44515243delT	ENST00000429154.2	+	5	1280	c.1052delT	c.(1051-1053)cttfs	p.L352fs		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	352					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)				TCCTCATATCTTTTGATCCAT	0.428																																					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.(1051-1053)ctfs		zinc finger protein 230							131	122	125					19																	44515243		2203	4300	6503	SO:0001589	frameshift_variant	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515243delT	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.1052delT	19.37:g.44515243delT	ENSP00000409318:p.Leu352fs		Somatic					p.L352fs	NM_006300.3	NP_006291.2	WXS	Illumina GAIIx	Phase_I	Q9UIE0	ZN230_HUMAN			5	1280	+		Prostate(69;0.0352)	352					O15322|Q504X7|Q86W84|Q9P1U6	Frame_Shift_Del	DEL	ENST00000429154.2	37	c.1052delT	CCDS33044.1																																																																																				0.428	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			82	196						82	196	---	---	---	---	-	44515243	T	-	44515243	7	5	6	1	0	1	0	1	0	0	0	0	17799	1609	56	0	1066	0	ZNF230	19	44515243	Frame_Shift_Del	DEL	T	TCGA-N5-A4RM-01A-11D-A28R-08	31539502	44515243	14613740	59	403										
SFRS16	11129	broad.mit.edu	37	chr19	45572472	45572472	+	Frame_Shift_Del	DEL	G	G	-													0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	tgctgcaggagcgggaagacGagcttcgagccatggcccgc							TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr19:45572472delG	ENST00000221455.3	+	18	1938	c.1840delG	c.(1840-1842)gagfs	p.E614fs	CLASRP_ENST00000391953.4_Frame_Shift_Del_p.E552fs|CLASRP_ENST00000544944.2_Frame_Shift_Del_p.E595fs	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	614	Arg-rich.				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						GCGGGAAGACGAGCTTCGAGC	0.652																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(1783-1785)agfs		CLK4-associating serine/arginine rich protein							115	110	112					19																	45572472		2203	4300	6503	SO:0001589	frameshift_variant	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45572472delG	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.1840delG	19.37:g.45572472delG	ENSP00000221455:p.Glu614fs		Somatic				CLASRP_ENST00000391953.4_Frame_Shift_Del_p.E552fs|CLASRP_ENST00000221455.3_Frame_Shift_Del_p.E614fs	p.E595fs			WXS	Illumina GAIIx	Phase_I	Q8N2M8	CLASR_HUMAN			16	2475	+			614			Arg-rich.		B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Frame_Shift_Del	DEL	ENST00000221455.3	37	c.1783delG	CCDS12652.2																																																																																				0.652	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		10	392						10	392	---	---	---	---	-	45572472	G	-	45572472	7	5	6	1	0	1	0	1	0	0	0	0	14187	1059	37	0	1906	0	SFRS16	19	45572472	Frame_Shift_Del	DEL	G	TCGA-N5-A4RM-01A-11D-A28R-08	1057229	45572472	13556511	60	404										
TBC1D17	79735	broad.mit.edu	37	chr19	50384528	50384528	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	cagtgccgtctccctaggtgCagagcccagctgcccccagg	12	17	1	1			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr19:50384528C>G	ENST00000221543.5	+	5	622	c.323C>G	c.(322-324)gCa>gGa	p.A108G	AKT1S1_ENST00000482622.1_5'Flank|TBC1D17_ENST00000598789.1_Intron|TBC1D17_ENST00000535102.2_Missense_Mutation_p.A75G	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	108					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)		TCCCTAGGTGCAGAGCCCAGC	0.632																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(322-324)gCa>gGa		TBC1 domain family, member 17							24	26	26					19																	50384528		2203	4299	6502	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50384528C>G	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.323C>G	19.37:g.50384528C>G	ENSP00000221543:p.Ala108Gly		Somatic				TBC1D17_ENST00000598789.1_Intron|TBC1D17_ENST00000535102.2_Missense_Mutation_p.A75G	p.A108G	NM_024682.2	NP_078958.2	WXS	Illumina GAIIx	Phase_I	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	5	622	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	108					B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.323C>G	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	C	8.540	0.872982	0.17322	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.33438	1.41;1.41	5.56	3.39	0.38822	Domain of unknown function DUF3548 (1);	0.678397	0.13713	N	0.367969	T	0.22781	0.0550	L	0.40543	1.245	0.30475	N	0.772914	B;B	0.06786	0.001;0.0	B;B	0.10450	0.003;0.005	T	0.20940	-1.0260	10	0.23302	T	0.38	-0.6742	7.1371	0.25535	0.169:0.7437:0.0:0.0873	.	75;108	F5H1W7;Q9HA65	.;TBC17_HUMAN	G	108;75	ENSP00000221543:A108G;ENSP00000446323:A75G	ENSP00000221543:A108G	A	+	2	0	TBC1D17	55076340	0.992000	0.36948	0.978000	0.43139	0.389000	0.30415	2.042000	0.41222	0.681000	0.31386	0.561000	0.74099	GCA		0.632	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		3	25	0	0	0	1	0	3	25					G	50384528	C	G	50384528	3	3	6	1	0	0	0	0	1	0	0	0	15621	710	25	5	341	5	TBC1D17	19	50384528	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08	4812056	50384528	8744455	61	405										
FASTKD5	60493	broad.mit.edu	37	chr20	3128656	3128656	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	taacaatattcactaaggagCgactactcagatgctgaatg	8	8	2	2			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr20:3128656C>A	ENST00000380266.3	-	2	1382	c.1061G>T	c.(1060-1062)cGc>cTc	p.R354L	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	354					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						CACTAAGGAGCGACTACTCAG	0.403																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(1060-1062)cGc>cTc		FAST kinase domains 5							93	90	91					20																	3128656		2203	4300	6503	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128656C>A	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.1061G>T	20.37:g.3128656C>A	ENSP00000369618:p.Arg354Leu		Somatic				UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	p.R354L	NM_021826.4	NP_068598.1	WXS	Illumina GAIIx	Phase_I	Q7L8L6	FAKD5_HUMAN			2	1382	-			354					Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.1061G>T	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	T	5.247	0.231003	0.09969	.	.	ENSG00000215251	ENST00000380266	T	0.14022	2.54	5.61	4.48	0.54585	.	0.111433	0.38605	N	0.001623	T	0.06096	0.0158	N	0.08118	0	0.19300	N	0.999971	B	0.02656	0.0	B	0.01281	0.0	T	0.43540	-0.9385	10	0.10636	T	0.68	.	8.4628	0.32938	0.0:0.068:0.1316:0.8004	.	354	Q7L8L6	FAKD5_HUMAN	L	354	ENSP00000369618:R354L	ENSP00000369618:R354L	R	-	2	0	FASTKD5	3076656	0.988000	0.35896	0.611000	0.29010	0.167000	0.22549	2.294000	0.43567	0.395000	0.25257	-0.516000	0.04426	CGC		0.403	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		10	103	1	0	2.80697e-09	1	3.11574e-09	10	103					A	3128656	C	A	3128656	3	1	6	1	0	0	0	0	1	0	0	0	5696	768	27	5	1237	5	FASTKD5	20	3128656	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08		3128656	59896864	62	406										
PTPRT	11122	broad.mit.edu	37	chr20	40730876	40730876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	ttcgattcttatcatggttcCggggcaggagcccaatgctg	12	10	2	0	rs372862828		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr20:40730876C>T	ENST00000373187.1	-	26	3601	c.3602G>A	c.(3601-3603)cGg>cAg	p.R1201Q	PTPRT_ENST00000373198.4_Missense_Mutation_p.R1220Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1210Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1204Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1191Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1200Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1211Q			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1201	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATCATGGTTCCGGGGCAGGAG	0.557													C|||	1	0.000199681	8e-04	0	5008	,	,		18488	0		0	False		,,,				2504	0					ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(3667-3669)cGg>cAg		protein tyrosine phosphatase, receptor type, T		C	GLN/ARG,GLN/ARG	1,4255		0,1,2127	73	77	76		3602,3659	5.5	1	20		76	0,8508		0,0,4254	no	missense,missense	PTPRT	NM_007050.5,NM_133170.3	43,43	0,1,6381	TT,TC,CC		0.0,0.0235,0.0078	probably-damaging,probably-damaging	1201/1442,1220/1461	40730876	1,12763	2128	4254	6382	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.chr20:40730876C>T	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.3602G>A	20.37:g.40730876C>T	ENSP00000362283:p.Arg1201Gln		Somatic				PTPRT_ENST00000373193.3_Missense_Mutation_p.R1204Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1191Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1201Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1210Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1211Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1200Q	p.R1223Q	NM_133170.3	NP_573400.3	WXS	Illumina GAIIx	Phase_I	O14522	PTPRT_HUMAN			27	3903	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1201			Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3668G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567831	0.96540	2.35E-4	0.0	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58	5.48	5.48	0.80851	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.85682	D	0.000000	T	0.30978	0.0782	L	0.37697	1.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.01596	-1.1316	10	0.66056	D	0.02	.	19.354	0.94404	0.0:1.0:0.0:0.0	.	1223;1201	O14522-1;O14522	.;PTPRT_HUMAN	Q	1200;1201;1204;1210;1223;1211;1191	ENSP00000362286:R1200Q;ENSP00000362283:R1201Q;ENSP00000362289:R1204Q;ENSP00000348408:R1210Q;ENSP00000362294:R1223Q;ENSP00000362280:R1211Q;ENSP00000362297:R1191Q	ENSP00000348408:R1210Q	R	-	2	0	PTPRT	40164290	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.588000	0.87417	0.650000	0.86243	CGG		0.557	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			37	81	0	0	0	1	0	37	81					T	40730876	C	T	40730876	3	4	6	1	0	0	0	0	1	0	0	0	12827	652	23	1	747	1	PTPRT	20	40730876	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08	37602220	40730876	22294644	63	407										
L3MBTL	26013	broad.mit.edu	37	chr20	42164751	42164751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	ccccaggaagtgccccactcCtggttgcgacggctctggcc	12	17	1	0			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr20:42164751C>T	ENST00000427442.2	+	18	2033	c.1874C>T	c.(1873-1875)cCt>cTt	p.P625L	L3MBTL1_ENST00000373135.3_Missense_Mutation_p.P557L|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.P557L|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.P562L|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.P625L			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	557					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						TGCCCCACTCCTGGTTGCGAC	0.597																																						ENST00000444063.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(1669-1671)cCt>cTt		l(3)mbt-like 1 (Drosophila)							35	30	31					20																	42164751		2203	4300	6503	SO:0001583	missense	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.chr20:42164751C>T	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.1874C>T	20.37:g.42164751C>T	ENSP00000402107:p.Pro625Leu		Somatic				L3MBTL1_ENST00000427442.2_Missense_Mutation_p.P625L|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.P562L|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.P557L|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.P625L	p.P557L			WXS	Illumina GAIIx	Phase_I	Q9Y468	LMBL1_HUMAN			15	1802	+			557					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.1670C>T	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892416	0.91889	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.67;1.05	5.58	5.58	0.84498	.	0.107611	0.64402	D	0.000005	T	0.63165	0.2488	M	0.69463	2.115	0.80722	D	1	P;P;D;P	0.69078	0.746;0.503;0.997;0.729	P;B;D;B	0.65874	0.535;0.384;0.939;0.413	T	0.62134	-0.6918	10	0.52906	T	0.07	.	18.7754	0.91910	0.0:1.0:0.0:0.0	.	625;209;557;557	Q9Y468-5;Q9Y468-3;Q9Y468-2;Q9Y468-1	.;.;.;.	L	625;625;557;557;562;343;209	ENSP00000402107:P625L;ENSP00000398516:P625L;ENSP00000362227:P557L;ENSP00000403316:P557L;ENSP00000362226:P562L;ENSP00000410139:P343L	ENSP00000362225:P209L	P	+	2	0	L3MBTL1	41598165	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.529000	0.81952	2.800000	0.96347	0.650000	0.86243	CCT		0.597	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		5	63	0	0	0	1	0	5	63					T	42164751	C	T	42164751	3	4	6	1	0	0	0	0	1	0	0	0	8600	681	24	3	1728	3	L3MBTL	20	42164751	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08	1433875	42164751	20860769	64	408										
BCAS1	8537	broad.mit.edu	37	chr20	52612494	52612494	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	atagctgctgcctgggaatcGtcctttgcagtctccagtcc	10	13	1	0	rs146823292		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr20:52612494G>A	ENST00000395961.3	-	5	985	c.819C>T	c.(817-819)gaC>gaT	p.D273D	BCAS1_ENST00000371440.3_Silent_p.D273D|BCAS1_ENST00000434986.2_De_novo_Start_OutOfFrame|BCAS1_ENST00000371435.2_Silent_p.D273D	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	273						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)			CCTGGGAATCGTCCTTTGCAG	0.463																																						ENST00000434986.2																			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								breast carcinoma amplified sequence 1		G		1,4405	2.1+/-5.4	0,1,2202	127	112	117		819	-8.6	0	20	dbSNP_134	117	0,8600		0,0,4300	no	coding-synonymous	BCAS1	NM_003657.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		273/585	52612494	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8537					cytoplasm	protein binding	g.chr20:52612494G>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.819C>T	20.37:g.52612494G>A			Somatic				BCAS1_ENST00000395961.3_Silent_p.D273D|BCAS1_ENST00000371440.3_Silent_p.D273D|BCAS1_ENST00000371435.2_Silent_p.D273D				WXS	Illumina GAIIx	Phase_I	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		0	242	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)							A0AVG5|Q68CZ3	Translation_Start_Site	SNP	ENST00000395961.3	37		CCDS13444.1																																																																																				0.463	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		39	80	0	0	0	1	0	39	80					A	52612494	G	A	52612494	2	1	6	1	0	0	0	0	0	0	0	1	1350	1136	40	1		1	BCAS1	20	52612494	Silent	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08	10447743	52612494	10413026	65	409										
KRTAP19-6	337973	broad.mit.edu	37	chr21	31914007	31914007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	cagagaatccatatccttcaCggcatgatgggcggcagcag	12	11	1	2	rs146590456	byFrequency	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr21:31914007C>T	ENST00000334046.5	-	1	176	c.146G>A	c.(145-147)cGt>cAt	p.R49H		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	49						intermediate filament (GO:0005882)		p.R49H(1)		breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						ATATCCTTCACGGCATGATGG	0.493																																						ENST00000334046.5																			1	Substitution - Missense(1)	p.R49H(1)	lung(1)	breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						c.(145-147)cGt>cAt		keratin associated protein 19-6		T	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	108	119	115		146	-1.2	0	21	dbSNP_134	115	0,8600		0,0,4300	no	missense	KRTAP19-6	NM_181612.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	49/59	31914007	1,13005	2203	4300	6503	SO:0001583	missense	337973					intermediate filament		g.chr21:31914007C>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.146G>A	21.37:g.31914007C>T	ENSP00000375107:p.Arg49His		Somatic					p.R49H	NM_181612.2	NP_853643.1	WXS	Illumina GAIIx	Phase_I	Q3LI70	KR196_HUMAN			1	176	-			49					Q3LI71	Missense_Mutation	SNP	ENST00000334046.5	37	c.146G>A	CCDS13598.1	.	.	.	.	.	.	.	.	.	.	c	8.758	0.922817	0.18056	2.27E-4	0.0	ENSG00000186925	ENST00000334046;ENST00000437381	T	0.09163	3.01	4.39	-1.21	0.09524	.	1.153980	0.07023	N	0.827077	T	0.07908	0.0198	.	.	.	0.09310	N	1	B	0.19200	0.034	B	0.08055	0.003	T	0.41305	-0.9516	9	0.87932	D	0	3.6947	5.0821	0.14663	0.0:0.4052:0.1729:0.4219	.	49	Q3LI70	KR196_HUMAN	H	49	ENSP00000375107:R49H	ENSP00000375107:R49H	R	-	2	0	KRTAP19-6	30835878	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.711000	0.00386	-0.097000	0.12307	-0.334000	0.08254	CGT		0.493	KRTAP19-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128231.4			133	161	0	0	0	1	0	133	161					T	31914007	C	T	31914007	3	4	6	1	0	0	0	0	1	0	0	0	8542	536	19	1	34	1	KRTAP19-6	21	31914007	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08		31914007	16215888	66	410										
PI4KA	5297	broad.mit.edu	37	chr22	21084273	21084273	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	ccgagagccgacagttatgtCcaggttgctccgggtgtcct	13	12	0	1			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr22:21084273C>A	ENST00000572273.1	-	37	4371	c.4141G>T	c.(4141-4143)Gac>Tac	p.D1381Y	PI4KA_ENST00000255882.6_Missense_Mutation_p.D1439Y|PI4KA_ENST00000414196.3_Missense_Mutation_p.D191Y			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1381					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)			ACAGTTATGTCCAGGTTGCTC	0.493																																					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.(4315-4317)Gac>Tac		phosphatidylinositol 4-kinase, catalytic, alpha							105	78	87					22																	21084273		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.chr22:21084273C>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4141G>T	22.37:g.21084273C>A	ENSP00000458238:p.Asp1381Tyr		Somatic				PI4KA_ENST00000572273.1_Missense_Mutation_p.D1381Y|PI4KA_ENST00000414196.3_Missense_Mutation_p.D191Y	p.D1439Y	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)		37	4401	-	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)	1381					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.4315G>T		.	.	.	.	.	.	.	.	.	.	C	29.3	4.991609	0.93106	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.77877	-1.13	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.79293	0.4421	L	0.51422	1.61	0.80722	D	1	D	0.63880	0.993	P	0.49332	0.607	T	0.76556	-0.2916	10	0.27785	T	0.31	-29.1856	19.29	0.94095	0.0:1.0:0.0:0.0	.	1381	P42356	PI4KA_HUMAN	Y	1381;191	ENSP00000402981:D191Y	ENSP00000255882:D1381Y	D	-	1	0	PI4KA	19414273	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.706000	0.84615	2.569000	0.86673	0.563000	0.77884	GAC		0.493	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		28	33	1	0	1.42536e-11	1	1.59813e-11	28	33					A	21084273	C	A	21084273	3	1	6	1	0	0	0	0	1	0	0	0	11882	855	30	2	2069	2	PI4KA	22	21084273	Missense_Mutation	SNP	C	TCGA-N5-A4RM-01A-11D-A28R-08		21084273	30220293	67	411										
SMC1A	8243	broad.mit.edu	37	chrX	53432009	53432009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	actctgggagtacttgagccGcatctgcagtccatgggcct	12	12	2	1			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chrX:53432009G>A	ENST00000322213.4	-	13	2258	c.2131C>T	c.(2131-2133)Cgg>Tgg	p.R711W	SMC1A_ENST00000375340.6_Missense_Mutation_p.R477W	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	711			R -> Q (in CDLS2). {ECO:0000269|PubMed:20358602}.|R -> W (in CDLS2). {ECO:0000269|PubMed:17273969, ECO:0000269|PubMed:19701948}.		DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.R711W(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TACTTGAGCCGCATCTGCAGT	0.562																																						ENST00000322213.4																			1	Substitution - Missense(1)	p.R711W(1)	endometrium(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49	GRCh37	CM071102	SMC1A	M		c.(2131-2133)Cgg>Tgg		structural maintenance of chromosomes 1A							107	65	80					X																	53432009		2202	4299	6501	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53432009G>A	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2131C>T	X.37:g.53432009G>A	ENSP00000323421:p.Arg711Trp		Somatic				SMC1A_ENST00000375340.6_Missense_Mutation_p.R477W	p.R711W	NM_006306.2	NP_006297.2	WXS	Illumina GAIIx	Phase_I	Q14683	SMC1A_HUMAN			13	2258	-			711		R -> Q (in CDLS2).|R -> W (in CDLS2).			O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.2131C>T	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081408	0.76528	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	T;D	0.86097	-1.25;-2.07	5.01	4.01	0.46588	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.92665	0.7669	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	0.973;0.999;1.0	D	0.93094	0.6502	10	0.87932	D	0	.	9.3093	0.37893	0.0:0.0:0.5604:0.4396	.	477;689;711	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	W	711;477	ENSP00000323421:R711W;ENSP00000364489:R477W	ENSP00000323421:R711W	R	-	1	2	SMC1A	53448734	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.114000	0.50383	2.235000	0.73313	0.600000	0.82982	CGG		0.562	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		21	4	0	0	0	1	0	21	4					A	53432009	G	A	53432009	3	1	6	1	0	0	0	0	1	0	0	0	14796	1086	38	1	1622	1	SMC1A	23	53432009	Missense_Mutation	SNP	G	TCGA-N5-A4RM-01A-11D-A28R-08		53432009	101838551	68	412										
FAM120C	54954	broad.mit.edu	37	chrX	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC													0.0579710144927536	4	1	0.811771561771562	2.97649572649573	0.255128205128205	0.523809523809524	1	0	gggccccgggcagctgagggINSggcggcggcggcggcagcgg							TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000497680.1_5'Flank|FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														77	0.0203974	0.0045	0.0159	3775	,	,		9228	0		0.0467	False		,,,				2504	0.0133					ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(328-330)ccc>cGCCGCCcc		family with sequence similarity 120C																																				SO:0001652	inframe_insertion	54954							g.chrX:54209302_54209303insGGCGGC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.324_329dupGCCGCC	X.37:g.54209303_54209308dupGGCGGC	ENSP00000364324:p.ProPro110dup		Somatic				FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR	p.109_110insRR	NM_017848.4	NP_060318.3	WXS	Illumina GAIIx	Phase_I	Q9NX05	F120C_HUMAN			1	385_386	-			109					B2RMT7	In_Frame_Ins	INS	ENST00000375180.2	37	c.329_330insGCCGCC	CCDS14356.1																																																																																				0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		5	5						5	5	---	---	---	---	GGCGGC	54209303	-	GGCGGC	54209302	7	5	6	1	0	1	1	0	0	0	0	0	5423	1219	43	0	3046	0	FAM120C	23	54209302	In_Frame_Ins	INS	-	TCGA-N5-A4RM-01A-11D-A28R-08	777293	54209302	101061258	69	413										
RAD54L	8438	broad.mit.edu	37	chr1	46714224	46714224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ccagctggccaagagaaaacCtgaaggcaggtcctgtgatg	13	10	0	3			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:46714224C>A	ENST00000371975.4	+	2	718	c.44C>A	c.(43-45)cCt>cAt	p.P15H	RAD54L_ENST00000442598.1_Missense_Mutation_p.P15H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	15					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.P15H(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AAGAGAAAACCTGAAGGCAGG	0.547								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			1	Substitution - Missense(1)	p.P15H(1)	kidney(1)	breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(43-45)cCt>cAt	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							67	70	69					1																	46714224		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46714224C>A	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.44C>A	1.37:g.46714224C>A	ENSP00000361043:p.Pro15His		Somatic				RAD54L_ENST00000442598.1_Missense_Mutation_p.P15H	p.P15H	NM_003579.3	NP_003570.2	WXS	Illumina GAIIx	Phase_I	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	2	718	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	15					Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.44C>A	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623592	0.28889	.	.	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.88277	-2.36;-2.36	5.69	4.78	0.61160	.	0.487586	0.23314	N	0.049526	T	0.78123	0.4234	N	0.08118	0	0.29560	N	0.850697	B	0.25272	0.122	B	0.22601	0.04	T	0.73300	-0.4026	10	0.45353	T	0.12	-7.8326	12.9196	0.58224	0.0:0.9243:0.0:0.0757	.	15	Q92698	RAD54_HUMAN	H	15	ENSP00000396113:P15H;ENSP00000361043:P15H	ENSP00000361043:P15H	P	+	2	0	RAD54L	46486811	0.663000	0.27448	0.178000	0.23040	0.026000	0.11368	1.527000	0.35975	1.548000	0.49413	0.655000	0.94253	CCT		0.547	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		18	35	1	0	5.35267e-07	1	5.84828e-07	18	35					A	46714224	C	A	46714224	3	1	7	1	0	0	0	0	1	0	0	0	13008	681	24	5	50	5	RAD54L	1	46714224	Missense_Mutation	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08		46714224	202536397	1	414										
CDCP2	200008	broad.mit.edu	37	chr1	54605311	54605311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ggagaaggagctggagaagaCcattcatggggggggcagga	20	5	1	3	rs138436244		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:54605311C>T	ENST00000371330.1	-	4	2079	c.1232G>A	c.(1231-1233)gGt>gAt	p.G411D	CDCP2_ENST00000530059.1_Intron|RP11-446E24.4_ENST00000525949.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	411						extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CTGGAGAAGACCATTCATGGG	0.597																																						ENST00000371330.1																			0				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(1231-1233)gGt>gAt		CUB domain containing protein 2							55	55	55					1																	54605311		2203	4300	6503	SO:0001583	missense	200008					extracellular region		g.chr1:54605311C>T		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.1232G>A	1.37:g.54605311C>T	ENSP00000360381:p.Gly411Asp		Somatic				CDCP2_ENST00000530059.1_Intron	p.G411D	NM_201546.2	NP_963840.2	WXS	Illumina GAIIx	Phase_I	Q5VXM1	CDCP2_HUMAN			4	2079	-			411					Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	c.1232G>A	CCDS588.2	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294650	0.23564	.	.	ENSG00000157211	ENST00000371330	T	0.46063	0.88	1.22	1.22	0.21188	.	1.955520	0.03152	N	0.168155	T	0.43122	0.1233	N	0.19112	0.55	0.09310	N	1	D	0.64830	0.994	D	0.65010	0.931	T	0.49437	-0.8940	10	0.11794	T	0.64	0.0168	5.828	0.18564	0.0:1.0:0.0:0.0	.	411	Q5VXM1	CDCP2_HUMAN	D	411	ENSP00000360381:G411D	ENSP00000360381:G411D	G	-	2	0	CDCP2	54377899	0.004000	0.15560	0.020000	0.16555	0.189000	0.23516	0.306000	0.19279	0.946000	0.37632	0.462000	0.41574	GGT		0.597	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		50	23	0	0	0	1	0	50	23					T	54605311	C	T	54605311	3	4	7	1	0	0	0	0	1	0	0	0	3096	507	18	3	121	3	CDCP2	1	54605311	Missense_Mutation	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	7891087	54605311	194645310	2	415										
INADL	10207	broad.mit.edu	37	chr1	62582864	62582864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	gagctggttcctggacctccGcaaggacgacatcacagaac	11	13	1	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:62582864G>A	ENST00000371158.2	+	37	4978	c.4864G>A	c.(4864-4866)Gca>Aca	p.A1622T	INADL_ENST00000543708.1_Missense_Mutation_p.A436T	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1622					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						CTGGACCTCCGCAAGGACGAC	0.483																																						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.(4864-4866)Gca>Aca		InaD-like (Drosophila)							81	74	76					1																	62582864		1928	4150	6078	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62582864G>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4864G>A	1.37:g.62582864G>A	ENSP00000360200:p.Ala1622Thr		Somatic				INADL_ENST00000543708.1_Missense_Mutation_p.A436T	p.A1622T	NM_176877.2	NP_795352.2	WXS	Illumina GAIIx	Phase_I	Q8NI35	INADL_HUMAN			37	4978	+			1622					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.4864G>A	CCDS617.2	.	.	.	.	.	.	.	.	.	.	g	0.098	-1.156402	0.01686	.	.	ENSG00000132849	ENST00000371158;ENST00000543708	T;T	0.17213	2.71;2.29	5.81	2.34	0.29019	.	0.537656	0.17176	N	0.184074	T	0.07234	0.0183	N	0.08118	0	0.80722	D	1	B;B;B	0.12013	0.004;0.005;0.003	B;B;B	0.08055	0.001;0.001;0.003	T	0.31280	-0.9949	10	0.14252	T	0.57	.	7.5329	0.27693	0.223:0.0:0.1427:0.6343	.	436;1081;1622	B4DE90;Q8NI35-5;Q8NI35	.;.;INADL_HUMAN	T	1622;436	ENSP00000360200:A1622T;ENSP00000445790:A436T	ENSP00000360200:A1622T	A	+	1	0	INADL	62355452	0.425000	0.25498	0.721000	0.30653	0.027000	0.11550	1.098000	0.31000	0.162000	0.19483	-0.119000	0.15052	GCA		0.483	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		3	30	0	0	0	1	0	3	30					A	62582864	G	A	62582864	3	1	7	1	0	0	0	0	1	0	0	0	7740	1087	38	1	5006	1	INADL	1	62582864	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	7977553	62582864	186667757	3	416										
CCDC76	54482	broad.mit.edu	37	chr1	100613620	100613620	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	agtggaaccctgtggctggcAttgttattgcactctgttgt	12	8	1	0			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:100613620A>G	ENST00000370141.2	+	10	994	c.988A>G	c.(988-990)Att>Gtt	p.I330V		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	330					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										TGTGGCTGGCATTGTTATTGC	0.413																																						ENST00000370141.2																			0											c.(988-990)Att>Gtt		tRNA methyltransferase 13 homolog (S. cerevisiae)							96	93	94					1																	100613620		2203	4300	6503	SO:0001583	missense	54482							g.chr1:100613620A>G	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"coiled-coil domain containing 76"	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.988A>G	1.37:g.100613620A>G	ENSP00000359160:p.Ile330Val		Somatic					p.I330V	NM_019083.2	NP_061956.2	WXS	Illumina GAIIx	Phase_I					10	994	+								Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.988A>G	CCDS765.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758580	0.69763	.	.	ENSG00000122435	ENST00000370141	T	0.45276	0.9	5.75	5.75	0.90469	Methyltransferase TRM13 (1);	0.114436	0.64402	D	0.000011	T	0.38746	0.1052	L	0.46157	1.445	0.80722	D	1	P	0.51791	0.948	P	0.54499	0.754	T	0.09357	-1.0678	10	0.25751	T	0.34	-4.3887	16.0623	0.80847	1.0:0.0:0.0:0.0	.	330	Q9NUP7	TRM13_HUMAN	V	330	ENSP00000359160:I330V	ENSP00000359160:I330V	I	+	1	0	CCDC76	100386208	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.369000	0.44231	2.195000	0.70347	0.533000	0.62120	ATT		0.413	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		18	39	0	0	0	1	0	18	39					G	100613620	A	G	100613620	3	3	7	1	0	0	0	0	1	0	0	0	2852	217	8	4	1026	4	CCDC76	1	100613620	Missense_Mutation	SNP	A	TCGA-N5-A4RN-01A-12D-A28R-08	38030756	100613620	148637001	4	417										
RPRD2	23248	broad.mit.edu	37	chr1	150444176	150444176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ggctatttggtgccttcagcGtaagagggaatgaacctggg	15	7	1	2			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:150444176G>A	ENST00000369068.4	+	11	2756	c.2752G>A	c.(2752-2754)Gta>Ata	p.V918I	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.V892I|RPRD2_ENST00000401000.4_Missense_Mutation_p.V892I	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	918	Ser-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						TGCCTTCAGCGTAAGAGGGAA	0.507																																						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.(2674-2676)Gta>Ata		regulation of nuclear pre-mRNA domain containing 2							196	194	194					1																	150444176		2006	4174	6180	SO:0001583	missense	23248						protein binding	g.chr1:150444176G>A	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2752G>A	1.37:g.150444176G>A	ENSP00000358064:p.Val918Ile		Somatic				RPRD2_ENST00000539519.1_Missense_Mutation_p.V892I|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.V918I	p.V892I			WXS	Illumina GAIIx	Phase_I	Q5VT52	RPRD2_HUMAN			10	2739	+			918			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.2674G>A	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.418245	0.01136	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.41758	1.0;0.99;1.0	5.32	-1.59	0.08453	.	0.409852	0.25717	N	0.028778	T	0.03651	0.0104	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	0.35251	-0.9796	10	0.02654	T	1	-1.4748	3.2622	0.06853	0.3573:0.3938:0.15:0.0989	.	892;918;892	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	I	892;892;918	ENSP00000383785:V892I;ENSP00000445482:V892I;ENSP00000358064:V918I	ENSP00000358064:V918I	V	+	1	0	RPRD2	148710800	0.010000	0.17322	0.955000	0.39395	0.990000	0.78478	-0.056000	0.11787	-0.118000	0.11851	-0.312000	0.09012	GTA		0.507	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		5	367	0	0	0	1	0	5	367					A	150444176	G	A	150444176	3	1	7	1	0	0	0	0	1	0	0	0	13632	1145	40	1	2794	1	RPRD2	1	150444176	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	49830556	150444176	98806445	5	418										
LINGO4	339398	broad.mit.edu	37	chr1	151774911	151774911	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	gagagctggttgtagctgagGtccaattcctggagcaggct	15	8	0	2			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:151774911G>T	ENST00000368820.3	-	2	1207	c.270C>A	c.(268-270)gaC>gaA	p.D90E		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	90						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGTAGCTGAGGTCCAATTCCT	0.612																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(268-270)gaC>gaA		leucine rich repeat and Ig domain containing 4							75	66	69					1																	151774911		2203	4300	6503	SO:0001583	missense	339398					integral to membrane		g.chr1:151774911G>T		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"Immunoglobulin superfamily / I-set domain containing"	31814	protein-coding gene	gene with protein product		609794	"leucine rich repeat neuronal 6D"	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.270C>A	1.37:g.151774911G>T	ENSP00000357810:p.Asp90Glu		Somatic					p.D90E	NM_001004432.2	NP_001004432.1	WXS	Illumina GAIIx	Phase_I	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	1207	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		90						Missense_Mutation	SNP	ENST00000368820.3	37	c.270C>A	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160415	0.38119	.	.	ENSG00000213171	ENST00000368820	T	0.60797	0.16	5.28	1.1	0.20463	.	0.000000	0.50627	D	0.000104	T	0.57533	0.2060	M	0.79123	2.44	0.48452	D	0.999656	D	0.55605	0.972	P	0.58266	0.836	T	0.58858	-0.7562	10	0.36615	T	0.2	.	10.7923	0.46440	0.3253:0.0:0.6747:0.0	.	90	Q6UY18	LIGO4_HUMAN	E	90	ENSP00000357810:D90E	ENSP00000357810:D90E	D	-	3	2	LINGO4	150041535	1.000000	0.71417	0.999000	0.59377	0.885000	0.51271	1.177000	0.31969	0.117000	0.18138	-1.644000	0.00765	GAC		0.612	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		10	68	1	0	0.00621372	1	0.00637581	10	68					T	151774911	G	T	151774911	3	4	7	1	0	0	0	0	1	0	0	0	8826	1252	44	5	1515	5	LINGO4	1	151774911	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	1330735	151774911	97475710	6	419										
MAEL	84944	broad.mit.edu	37	chr1	166962019	166962019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	cctcccttgtgaaattggctGtgttaagtattctctccaag	8	10	1	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:166962019G>A	ENST00000367872.4	+	4	666	c.422G>A	c.(421-423)tGt>tAt	p.C141Y	MAEL_ENST00000367870.2_Missense_Mutation_p.C110Y|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	141					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GAAATTGGCTGTGTTAAGTAT	0.398																																						ENST00000367872.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						c.(421-423)tGt>tAt		maelstrom spermatogenic transposon silencer							114	113	114					1																	166962019		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166962019G>A	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"cancer/testis antigen 128", "spermatogenesis associated 35"	611368	"maelstrom homolog (Drosophila)"			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.422G>A	1.37:g.166962019G>A	ENSP00000356846:p.Cys141Tyr		Somatic				MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.C110Y	p.C141Y	NM_032858.1	NP_116247.1	WXS	Illumina GAIIx	Phase_I	Q96JY0	MAEL_HUMAN			4	666	+			141					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.422G>A	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985452	0.74589	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.50277	0.75;0.76;0.82	5.65	5.65	0.86999	Domain of unknown function DUF1898 (1);	0.000000	0.64402	D	0.000001	T	0.51210	0.1661	L	0.27053	0.805	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57021	-0.7882	10	0.87932	D	0	.	18.5057	0.90896	0.0:0.0:1.0:0.0	.	110;141	E9JVC3;Q96JY0	.;MAEL_HUMAN	Y	141;110;110	ENSP00000356846:C141Y;ENSP00000356844:C110Y;ENSP00000402143:C110Y	ENSP00000356844:C110Y	C	+	2	0	MAEL	165228643	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.561000	0.73955	2.660000	0.90430	0.467000	0.42956	TGT		0.398	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		21	87	0	0	0	1	0	21	87					A	166962019	G	A	166962019	3	1	7	1	0	0	0	0	1	0	0	0	9163	1377	48	3	436	3	MAEL	1	166962019	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	15187108	166962019	82288602	7	420										
RCSD1	92241	broad.mit.edu	37	chr1	167663457	167663457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ccccagcagccctggtgtgcGatctaggcccagcgaggcag	14	15	1	0	rs376910996		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:167663457G>A	ENST00000367854.3	+	5	723	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	RCSD1_ENST00000537350.1_Missense_Mutation_p.R101Q	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	131					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)					CCTGGTGTGCGATCTAGGCCC	0.592																																						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.(391-393)cGa>cAa		RCSD domain containing 1		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	67	63	64		392	0	0	1		64	0,8600		0,0,4300	no	missense	RCSD1	NM_052862.3	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	131/417	167663457	2,13004	2203	4300	6503	SO:0001583	missense	92241							g.chr1:167663457G>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.392G>A	1.37:g.167663457G>A	ENSP00000356828:p.Arg131Gln		Somatic				RCSD1_ENST00000537350.1_Missense_Mutation_p.R101Q	p.R131Q	NM_052862.3	NP_443094.3	WXS	Illumina GAIIx	Phase_I	Q6JBY9	CPZIP_HUMAN			5	723	+	all_hematologic(923;0.215)		131					B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	c.392G>A	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	G	6.398	0.441536	0.12164	4.54E-4	0.0	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	T;T	0.46819	0.88;0.86	5.18	-0.00962	0.14000	.	0.506844	0.18304	N	0.145311	T	0.07234	0.0183	N	0.21617	0.685	0.27928	N	0.937984	B;P	0.42248	0.123;0.774	B;B	0.26864	0.005;0.074	T	0.34030	-0.9845	9	0.12766	T	0.61	-0.8743	5.9102	0.19025	0.506:0.137:0.357:0.0	.	101;131	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	Q	131;107;101	ENSP00000356828:R131Q;ENSP00000439409:R101Q	ENSP00000355291:R107Q	R	+	2	0	RCSD1	165930081	0.005000	0.15991	0.000000	0.03702	0.145000	0.21501	1.647000	0.37260	-0.177000	0.10690	-0.136000	0.14681	CGA		0.592	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		9	84	0	0	0	1	0	9	84					A	167663457	G	A	167663457	3	1	7	1	0	0	0	0	1	0	0	0	13200	1058	37	1	410	1	RCSD1	1	167663457	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	701438	167663457	81587164	8	421										
KIF14	9928	broad.mit.edu	37	chr1	200584490	200584491	+	Frame_Shift_Ins	INS	-	-	T													0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	aatacaacttacgtatatgaINSttttccagagccagtctgac							TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:200584490_200584491insT	ENST00000367350.4	-	3	1797_1798	c.1359_1360insA	c.(1357-1362)aaatcafs	p.S454fs		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	454	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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						TACGTATATGATTTTCCAGAGC	0.381																																						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.(1357-1362)aacatafs		kinesin family member 14																																				SO:0001589	frameshift_variant	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200584490_200584491insT	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.1360dupA	1.37:g.200584494_200584494dupT	ENSP00000356319:p.Ser454fs		Somatic					p.NI453fs	NM_014875.2	NP_055690.1	WXS	Illumina GAIIx	Phase_I	Q15058	KIF14_HUMAN			3	1797_1798	-			453			Kinesin-motor.		Q14CI8|Q4G0A5|Q5T1W3	Frame_Shift_Ins	INS	ENST00000367350.4	37	c.1359_1360insA	CCDS30963.1																																																																																				0.381	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		38	50						38	50	---	---	---	---	T	200584491	-	T	200584490	7	5	7	1	0	1	1	0	0	0	0	0	8285	333	12	0	3698	0	KIF14	1	200584490	Frame_Shift_Ins	INS	-	TCGA-N5-A4RN-01A-12D-A28R-08	32921033	200584490	48666131	9	422										
KIF26B	55083	broad.mit.edu	37	chr1	245775144	245775144	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	caccgcagagaaggctgcctTtttcctggatgccgccattg	11	13	0	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:245775144T>G	ENST00000407071.2	+	9	2404	c.1964T>G	c.(1963-1965)tTt>tGt	p.F655C	RP11-522M21.2_ENST00000418402.1_RNA|KIF26B_ENST00000366518.4_Missense_Mutation_p.F274C	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	655	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			AAGGCTGCCTTTTTCCTGGAT	0.602																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(820-822)tTt>tGt		kinesin family member 26B							38	44	42					1																	245775144		2008	4163	6171	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245775144T>G	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.1964T>G	1.37:g.245775144T>G	ENSP00000385545:p.Phe655Cys		Somatic				KIF26B_ENST00000407071.2_Missense_Mutation_p.F655C	p.F274C			WXS	Illumina GAIIx	Phase_I	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		6	925	+	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)		655					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.821T>G	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	T	13.97	2.397114	0.42512	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.74632	-0.86;-0.86	5.22	5.22	0.72569	Kinesin, motor domain (4);	.	.	.	.	D	0.82536	0.5058	L	0.49126	1.545	0.54753	D	0.999988	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.993	D	0.84097	0.0393	9	0.62326	D	0.03	.	15.1052	0.72315	0.0:0.0:0.0:1.0	.	274;655	B7WPD9;Q2KJY2	.;KI26B_HUMAN	C	655;274;271	ENSP00000385545:F655C;ENSP00000355475:F274C	ENSP00000355475:F274C	F	+	2	0	KIF26B	243841767	1.000000	0.71417	0.998000	0.56505	0.686000	0.39977	4.913000	0.63341	1.979000	0.57680	0.533000	0.62120	TTT		0.602	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		19	52	0	0	0	1	0	19	52					G	245775144	T	G	245775144	3	3	7	1	0	0	0	0	1	0	0	0	8304	1841	64	4	1998	4	KIF26B	1	245775144	Missense_Mutation	SNP	T	TCGA-N5-A4RN-01A-12D-A28R-08	45190654	245775144	3475477	10	423										
PXDN	7837	broad.mit.edu	37	chr2	1652752	1652752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	gatgccctgccgcagcaggcCgcggtggctggccaggtcgc	17	15	0	0			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:1652752C>T	ENST00000252804.4	-	17	2850	c.2800G>A	c.(2800-2802)Ggc>Agc	p.G934S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	934					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)		CGCAGCAGGCCGCGGTGGCTG	0.692																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2800-2802)Ggc>Agc		peroxidasin homolog (Drosophila)							15	16	16					2																	1652752		1752	3767	5519	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.chr2:1652752C>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.2800G>A	2.37:g.1652752C>T	ENSP00000252804:p.Gly934Ser		Somatic					p.G934S	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)	17	2850	-	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)	934					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2800G>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	33	5.281669	0.95489	.	.	ENSG00000130508	ENST00000252804	D	0.86562	-2.14	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.96194	0.8759	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97157	0.9835	10	0.87932	D	0	-46.3882	19.8119	0.96549	0.0:1.0:0.0:0.0	.	934	Q92626	PXDN_HUMAN	S	934	ENSP00000252804:G934S	ENSP00000252804:G934S	G	-	1	0	PXDN	1631759	1.000000	0.71417	0.345000	0.25642	0.990000	0.78478	7.733000	0.84916	2.683000	0.91414	0.558000	0.71614	GGC		0.692	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		18	28	0	0	0	1	0	18	28					T	1652752	C	T	1652752	3	4	7	1	0	0	0	0	1	0	0	0	12862	652	23	1	1667	1	PXDN	2	1652752	Missense_Mutation	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08		1652752	241546621	11	424										
MTIF2	4528	broad.mit.edu	37	chr2	55463904	55463904	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ctgagaccacaatccattccCgttttgacaattgaaatgtc	6	11	0	3	rs138084091	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:55463904C>A	ENST00000263629.4	-	16	2379	c.2064G>T	c.(2062-2064)acG>acT	p.T688T	MTIF2_ENST00000394600.3_Silent_p.T688T|MTIF2_ENST00000403721.1_Silent_p.T688T	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	688					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						AATCCATTCCCGTTTTGACAA	0.313																																						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.(2062-2064)acG>acT		mitochondrial translational initiation factor 2							91	86	88					2																	55463904		2203	4300	6503	SO:0001819	synonymous_variant	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55463904C>A	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.2064G>T	2.37:g.55463904C>A			Somatic				MTIF2_ENST00000263629.4_Silent_p.T688T|MTIF2_ENST00000403721.1_Silent_p.T688T	p.T688T	NM_001005369.1	NP_001005369.1	WXS	Illumina GAIIx	Phase_I	P46199	IF2M_HUMAN			17	2800	-			688					D6W5D0	Silent	SNP	ENST00000263629.4	37	c.2064G>T	CCDS1853.1																																																																																				0.313	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		5	17	1	0	0.184627	1	0.184627	5	17					A	55463904	C	A	55463904	2	1	7	1	0	0	0	0	0	0	0	1	9943	639	23	5		5	MTIF2	2	55463904	Silent	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	53811152	55463904	187735469	12	425										
BCL11A	53335	broad.mit.edu	37	chr2	60773229	60773229	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ttttttcatctcgattggtgAaggggaaggtggcttatcca	12	6	2	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:60773229A>G	ENST00000335712.6	-	2	489	c.262T>C	c.(262-264)Tca>Cca	p.S88P	BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000359629.5_Missense_Mutation_p.S88P|BCL11A_ENST00000356842.4_Missense_Mutation_p.S88P|BCL11A_ENST00000538214.1_Missense_Mutation_p.S88P|BCL11A_ENST00000358510.4_Missense_Mutation_p.S88P	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	88	Required for nuclear body formation and for SUMO1 recruitment. {ECO:0000250}.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCGATTGGTGAAGGGGAAGGT	0.463			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.(262-264)Tca>Cca		B-cell CLL/lymphoma 11A (zinc finger protein)							164	157	159					2																	60773229		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.chr2:60773229A>G	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.262T>C	2.37:g.60773229A>G	ENSP00000338774:p.Ser88Pro		Somatic				BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.S88P|BCL11A_ENST00000356842.4_Missense_Mutation_p.S88P|BCL11A_ENST00000538214.1_Missense_Mutation_p.S88P|BCL11A_ENST00000359629.5_Missense_Mutation_p.S88P	p.S88P	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	489	-			88			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.262T>C	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	A	9.839	1.190434	0.21954	.	.	ENSG00000119866	ENST00000356842;ENST00000359629;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.09723	2.95;3.19;3.2;3.14	5.78	5.78	0.91487	.	0.000000	0.56097	D	0.000037	T	0.07863	0.0197	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B	0.09022	0.002;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B	0.09377	0.004;0.001;0.001;0.001;0.003;0.002	T	0.33085	-0.9882	10	0.22706	T	0.39	-1.1572	11.2305	0.48910	0.8633:0.0:0.0:0.1366	.	88;88;88;88;88;88	F5H2Y4;Q66LN6;Q9H165-6;Q9H165;Q9H165-3;D9YZV9	.;.;.;BC11A_HUMAN;.;.	P	88;88;124;88;88;88	ENSP00000349300:S88P;ENSP00000438303:S88P;ENSP00000338774:S88P;ENSP00000351307:S88P	ENSP00000338774:S88P	S	-	1	0	BCL11A	60626733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.203000	0.72137	2.208000	0.71279	0.455000	0.32223	TCA		0.463	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		20	46	0	0	0	1	0	20	46					G	60773229	A	G	60773229	3	3	7	1	0	0	0	0	1	0	0	0	1363	246	9	4	2363	4	BCL11A	2	60773229	Missense_Mutation	SNP	A	TCGA-N5-A4RN-01A-12D-A28R-08	5309325	60773229	182426144	13	426										
HAT1	8520	broad.mit.edu	37	chr2	172822005	172822007	+	In_Frame_Del	DEL	AGG	AGG	-													0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	tactcagttctcagtccaacAggaggagaaaactttacctt							TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:172822005_172822007delAGG	ENST00000264108.4	+	5	492_494	c.456_458delAGG	c.(454-459)acagga>aca	p.G154del	HAT1_ENST00000392584.1_In_Frame_Del_p.G69del|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	154					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TCAGTCCAACAGGAGGAGAAAAC	0.335																																						ENST00000264108.4																			0				breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19						c.(454-459)aca>ac		histone acetyltransferase 1																																				SO:0001651	inframe_deletion	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172822005_172822007delAGG	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases"	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.456_458delAGG	2.37:g.172822008_172822010delAGG	ENSP00000264108:p.Gly154del		Somatic				HAT1_ENST00000392584.1_In_Frame_Del_p.TG67del|SLC25A12_ENST00000472748.1_Intron	p.TG152del	NM_003642.3	NP_003633.1	WXS	Illumina GAIIx	Phase_I	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		5	492_494	+			152					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	In_Frame_Del	DEL	ENST00000264108.4	37	c.456_458delAGG	CCDS2245.1																																																																																				0.335	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		8	22						8	22	---	---	---	---	-	172822007	AGG	-	172822005	7	5	7	1	0	1	0	1	0	0	0	0	6973	175	7	0	474	0	HAT1	2	172822005	In_Frame_Del	DEL	AGG	TCGA-N5-A4RN-01A-12D-A28R-08	112048776	172822005	70377368	14	427										
PLCL1	5334	broad.mit.edu	37	chr2	198949947	198949947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	tgaaatgtctcgaaggatgtCggtagattacaatggtgagc	13	5	1	3			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:198949947C>T	ENST00000428675.1	+	2	2104	c.1706C>T	c.(1705-1707)tCg>tTg	p.S569L	PLCL1_ENST00000437704.2_Missense_Mutation_p.S471L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	569					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CGAAGGATGTCGGTAGATTAC	0.398																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1705-1707)tCg>tTg		phospholipase C-like 1	Quinacrine(DB01103)						84	83	83					2																	198949947		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949947C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1706C>T	2.37:g.198949947C>T	ENSP00000402861:p.Ser569Leu		Somatic				PLCL1_ENST00000437704.2_Missense_Mutation_p.S471L	p.S569L	NM_006226.3	NP_006217.3	WXS	Illumina GAIIx	Phase_I	Q15111	PLCL1_HUMAN			2	2104	+			569					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1706C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642803	0.29246	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.50813	0.73;0.73	5.51	5.51	0.81932	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.350526	0.24952	N	0.034285	T	0.37376	0.1001	L	0.40543	1.245	0.58432	D	0.999994	P;P	0.43701	0.815;0.815	B;B	0.30401	0.115;0.115	T	0.24297	-1.0164	9	.	.	.	.	19.614	0.95622	0.0:1.0:0.0:0.0	.	569;495	Q15111;B4DYZ4	PLCL1_HUMAN;.	L	569;471	ENSP00000402861:S569L;ENSP00000414138:S471L	.	S	+	2	0	PLCL1	198658192	1.000000	0.71417	0.986000	0.45419	0.752000	0.42762	3.724000	0.54962	2.873000	0.98535	0.561000	0.74099	TCG		0.398	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		21	45	0	0	0	1	0	21	45					T	198949947	C	T	198949947	3	4	7	1	0	0	0	0	1	0	0	0	12048	893	31	1	1712	1	PLCL1	2	198949947	Missense_Mutation	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	26127942	198949947	44249426	15	428										
ROBO1	6091	broad.mit.edu	37	chr3	78683127	78683127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	tgagctgttgtaggatcctcCtgtgttctggtcgtatgatt	12	7	1	2			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:78683127C>T	ENST00000464233.1	-	24	3552	c.3439G>A	c.(3439-3441)Gga>Aga	p.G1147R	ROBO1_ENST00000467549.1_Missense_Mutation_p.G1047R|ROBO1_ENST00000495273.1_Missense_Mutation_p.G1102R|ROBO1_ENST00000436010.2_Missense_Mutation_p.G1108R	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1147					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)		TAGGATCCTCCTGTGTTCTGG	0.393																																						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.(3322-3324)Gga>Aga		roundabout, axon guidance receptor, homolog 1 (Drosophila)							241	235	237					3																	78683127		1933	4137	6070	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.chr3:78683127C>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.3439G>A	3.37:g.78683127C>T	ENSP00000420321:p.Gly1147Arg		Somatic				ROBO1_ENST00000464233.1_Missense_Mutation_p.G1147R|ROBO1_ENST00000495273.1_Missense_Mutation_p.G1102R|ROBO1_ENST00000467549.1_Missense_Mutation_p.G1047R	p.G1108R			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)	22	4319	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1147					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.3322G>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343359	0.82022	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.93334	0.7875	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.967;1.0;1.0;0.981	D;P;D;D;P	0.97110	1.0;0.798;0.999;0.985;0.813	D	0.91849	0.5490	9	.	.	.	.	20.1001	0.97870	0.0:1.0:0.0:0.0	.	1111;1147;1102;1047;1108	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	R	1108;1102;1147;1102;1047;1151	ENSP00000406043:G1108R;ENSP00000420321:G1147R;ENSP00000420637:G1102R;ENSP00000417992:G1047R	.	G	-	1	0	ROBO1	78765817	1.000000	0.71417	0.998000	0.56505	0.365000	0.29674	5.737000	0.68606	2.760000	0.94817	0.655000	0.94253	GGA		0.393	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		14	32	0	0	0	1	0	14	32					T	78683127	C	T	78683127	3	4	7	1	0	0	0	0	1	0	0	0	13528	690	24	3	1548	3	ROBO1	3	78683127	Missense_Mutation	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08		78683127	119339303	16	429										
CPOX	1371	broad.mit.edu	37	chr3	98304286	98304286	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	tcgttttccagtcacttaccGtcctcttctgagctgctgcc	7	15	3	1	rs375923779		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:98304286G>C	ENST00000264193.2	-	5	1389	c.1171C>G	c.(1171-1173)Cgg>Ggg	p.R391G		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	391					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GTCACTTACCGTCCTCTTCTG	0.478																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	ENST00000264193.2																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16	GRCh37	CM011765	CPOX	M		c.e5+1		coproporphyrinogen oxidase							137	151	146					3																	98304286		2203	4300	6503	SO:0001630	splice_region_variant	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98304286G>C	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"coproporphyria"	612732	"coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.1172+1C>G	3.37:g.98304286G>C			Somatic					p.R391_splice	NM_000097.5	NP_000088.3	WXS	Illumina GAIIx	Phase_I	P36551	HEM6_HUMAN			5	1389	-			391					A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Splice_Site	SNP	ENST00000264193.2	37	c.1172_splice	CCDS2932.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876437	0.72180	.	.	ENSG00000080819	ENST00000264193	D	0.95205	-3.64	5.9	3.93	0.45458	.	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	H	0.99689	4.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98556	1.0639	10	0.87932	D	0	-19.9844	12.7786	0.57464	0.0:0.0:0.6607:0.3393	.	391	P36551	HEM6_HUMAN	G	391	ENSP00000264193:R391G	ENSP00000264193:R391G	R	-	1	2	CPOX	99786976	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.602000	0.46257	1.479000	0.48272	0.655000	0.94253	CGG		0.478	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097	Missense_Mutation	47	144	0	0	0	1	0	47	144					C	98304286	G	C	98304286	5	2	7	1	0	0	0	0	0	0	1	0	3823	1159	40	5	205	5	CPOX	3	98304286	Splice_Site	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	19621159	98304286	99718144	17	430										
ZBTB11	27107	broad.mit.edu	37	chr3	101395550	101395550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	cctcgatgaggtcccggcgtCgctccggctgcagcaccacc	12	18	0	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:101395550C>T	ENST00000312938.4	-	1	789	c.209G>A	c.(208-210)cGa>cAa	p.R70Q	ZBTB11_ENST00000461821.1_Missense_Mutation_p.R70Q|ZBTB11-AS1_ENST00000609682.1_RNA|ZBTB11-AS1_ENST00000536865.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	70					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTCCCGGCGTCGCTCCGGCTG	0.692																																						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.(208-210)cGa>cAa		zinc finger and BTB domain containing 11							12	14	14					3																	101395550		2187	4278	6465	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101395550C>T	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.209G>A	3.37:g.101395550C>T	ENSP00000326200:p.Arg70Gln		Somatic				ZBTB11_ENST00000461821.1_Missense_Mutation_p.R70Q|ZBTB11-AS1_ENST00000536865.1_Missense_Mutation_p.S21L	p.R70Q	NM_014415.3	NP_055230.2	WXS	Illumina GAIIx	Phase_I	O95625	ZBT11_HUMAN			1	789	-			70					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.209G>A	CCDS2943.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.109404|5.109404	0.94292|0.94292	.|.	.|.	ENSG00000066422|ENSG00000256628	ENST00000312938;ENST00000461821|ENST00000536865	T;T|.	0.38722|.	1.12;1.12|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.257565	.|0.20226	.|U	.|0.096598	T|T	0.59689|0.59689	0.2212|0.2212	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999999|0.999999	B;D|B	0.89917|0.27700	0.336;1.0|0.186	B;D|B	0.80764|0.19148	0.082;0.994|0.024	T|T	0.60546|0.60546	-0.7242|-0.7242	9|9	0.87932|0.87932	D|D	0|0	-10.8058|-10.8058	19.2119|19.2119	0.93758|0.93758	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	70;70|21	C9J2L2;O95625|Q9BTX9	.;ZBT11_HUMAN|YC010_HUMAN	Q|L	70|21	ENSP00000326200:R70Q;ENSP00000417369:R70Q|.	ENSP00000326200:R70Q|ENSP00000444544:S21L	R|S	-|+	2|2	0|0	ZBTB11|AC084198.1	102878240|102878240	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.211000|5.211000	0.65219|0.65219	2.542000|2.542000	0.85734|0.85734	0.591000|0.591000	0.81541|0.81541	CGA|TCG		0.692	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		13	1	0	0	0	1	0	13	1					T	101395550	C	T	101395550	3	4	7	1	0	0	0	0	1	0	0	0	17539	884	31	1	2996	1	ZBTB11	3	101395550	Missense_Mutation	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	3091264	101395550	96626880	18	431										
STAG1	10274	broad.mit.edu	37	chr3	136342011	136342011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	aggccggccaggacgaccccTttttctttttcctttgacct	8	14	1	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:136342011T>C	ENST00000383202.2	-	3	365	c.109A>G	c.(109-111)Agg>Ggg	p.R37G	STAG1_ENST00000480733.1_Missense_Mutation_p.R37G|STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000236698.5_Missense_Mutation_p.R37G	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	37					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						GGACGACCCCTTTTTCTTTTT	0.388																																						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.(109-111)Agg>Ggg		stromal antigen 1							127	139	135					3																	136342011		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.chr3:136342011T>C	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.109A>G	3.37:g.136342011T>C	ENSP00000372689:p.Arg37Gly		Somatic				STAG1_ENST00000236698.5_Missense_Mutation_p.R37G|STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000480733.1_Missense_Mutation_p.R37G	p.R37G	NM_005862.2	NP_005853.2	WXS	Illumina GAIIx	Phase_I	Q8WVM7	STAG1_HUMAN			3	365	-			37					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.109A>G	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	t	16.92	3.254117	0.59212	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000480733	T;T	0.25912	1.78;1.77	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.25306	0.0615	L	0.38531	1.155	0.80722	D	1	P;P;B	0.43477	0.808;0.717;0.01	B;P;B	0.45377	0.223;0.478;0.006	T	0.01661	-1.1301	10	0.30078	T	0.28	.	12.4866	0.55877	0.0:0.0:0.0:1.0	.	37;37;37	C9JJQ0;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	G	37	ENSP00000372689:R37G;ENSP00000236698:R37G	ENSP00000236698:R37G	R	-	1	2	STAG1	137824701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.316000	0.51960	2.179000	0.69175	0.460000	0.39030	AGG		0.388	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		4	207	0	0	0	1	0	4	207					C	136342011	T	C	136342011	3	2	7	1	0	0	0	0	1	0	0	0	15257	1608	56	4	3795	4	STAG1	3	136342011	Missense_Mutation	SNP	T	TCGA-N5-A4RN-01A-12D-A28R-08	34946461	136342011	61680419	19	432										
CCDC39	339829	broad.mit.edu	37	chr3	180337633	180337633	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	tttttaaaagattgcttataAttgttgttacagctgttcag	7	4	1	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:180337633A>T	ENST00000442201.2	-	15	2243	c.2124T>A	c.(2122-2124)aaT>aaA	p.N708K	CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	708					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)			ATTGCTTATAATTGTTGTTAC	0.338																																						ENST00000442201.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(2122-2124)aaT>aaA		coiled-coil domain containing 39							94	83	86					3																	180337633		1798	4075	5873	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180337633A>T	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2124T>A	3.37:g.180337633A>T	ENSP00000405708:p.Asn708Lys		Somatic				CCDC39_ENST00000273654.4_Intron	p.N708K	NM_181426.1	NP_852091.1	WXS	Illumina GAIIx	Phase_I	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		15	2243	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		708					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.2124T>A	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	A	2.191	-0.385310	0.04966	.	.	ENSG00000145075	ENST00000442201	T	0.78246	-1.16	5.55	-3.28	0.05033	.	.	.	.	.	T	0.61035	0.2315	L	0.43757	1.38	0.80722	D	1	B	0.22909	0.077	B	0.15052	0.012	T	0.49570	-0.8926	9	0.07644	T	0.81	.	9.3679	0.38237	0.4889:0.1004:0.4107:0.0	.	708	Q9UFE4	CCD39_HUMAN	K	708	ENSP00000405708:N708K	ENSP00000405708:N708K	N	-	3	2	CCDC39	181820327	0.930000	0.31532	0.801000	0.32222	0.326000	0.28443	0.062000	0.14389	-0.446000	0.07149	-1.232000	0.01568	AAT		0.338	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		4	16	0	0	0	1	0	4	16					T	180337633	A	T	180337633	3	4	7	1	0	0	0	0	1	0	0	0	2813	98	4	4	725	4	CCDC39	3	180337633	Missense_Mutation	SNP	A	TCGA-N5-A4RN-01A-12D-A28R-08	43995622	180337633	17684797	20	433										
ADAMTS3	9508	broad.mit.edu	37	chr4	73188778	73188778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	caccaggaccacatttatatGcactccgagggactcatcat	7	13	2	0			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr4:73188778G>A	ENST00000286657.4	-	6	934	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	300	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)			ACATTTATATGCACTCCGAGG	0.363																																					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.(898-900)Cat>Tat		ADAM metallopeptidase with thrombospondin type 1 motif, 3							180	180	180					4																	73188778		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.chr4:73188778G>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.898C>T	4.37:g.73188778G>A	ENSP00000286657:p.His300Tyr		Somatic				RP11-373J21.1_ENST00000503918.1_RNA	p.H300Y	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)		6	934	-			300			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.898C>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482088	0.84747	.	.	ENSG00000156140	ENST00000286657	D	0.86627	-2.15	6.06	6.06	0.98353	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.90618	0.7058	L	0.42245	1.32	0.58432	D	0.999994	D	0.89917	1.0	D	0.78314	0.991	D	0.85173	0.0999	10	0.10902	T	0.67	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	300	O15072	ATS3_HUMAN	Y	300	ENSP00000286657:H300Y	ENSP00000286657:H300Y	H	-	1	0	ADAMTS3	73407642	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	7.289000	0.78701	2.882000	0.98803	0.655000	0.94253	CAT		0.363	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			36	122	0	0	0	1	0	36	122					A	73188778	G	A	73188778	3	1	7	1	0	0	0	0	1	0	0	0	267	1319	46	3	2787	3	ADAMTS3	4	73188778	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08		73188778	117965498	21	434										
TET2	54790	broad.mit.edu	37	chr4	106157271	106157271	+	Frame_Shift_Del	DEL	T	T	-													0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	cttttgcaacataagcctcaTaaacaggcagcacaaacaca							TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr4:106157271delT	ENST00000540549.1	+	3	3032	c.2172delT	c.(2170-2172)catfs	p.H724fs	TET2_ENST00000545826.1_Frame_Shift_Del_p.H724fs|TET2_ENST00000305737.2_Frame_Shift_Del_p.H724fs|TET2_ENST00000380013.4_Frame_Shift_Del_p.H724fs|TET2_ENST00000413648.2_Frame_Shift_Del_p.H724fs|TET2_ENST00000513237.1_Frame_Shift_Del_p.H745fs|TET2_ENST00000394764.1_Frame_Shift_Del_p.H724fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	724	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.H724fs*29(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATAAGCCTCATAAACAGGCAG	0.408			"Mis N, F"		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"Mis N, F"	tet oncogene family member 2			L			MDS		1	Deletion - Frameshift(1)	p.H724fs*29(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(2233-2235)cafs		tet methylcytosine dioxygenase 2							75	78	77					4																	106157271		2203	4300	6503	SO:0001589	frameshift_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106157271delT	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2172delT	4.37:g.106157271delT	ENSP00000442788:p.His724fs		Somatic				TET2_ENST00000380013.4_Frame_Shift_Del_p.H724fs|TET2_ENST00000305737.2_Frame_Shift_Del_p.H724fs|TET2_ENST00000413648.2_Frame_Shift_Del_p.H724fs|TET2_ENST00000545826.1_Frame_Shift_Del_p.H724fs|TET2_ENST00000394764.1_Frame_Shift_Del_p.H724fs|TET2_ENST00000540549.1_Frame_Shift_Del_p.H724fs	p.H745fs			WXS	Illumina GAIIx	Phase_I	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	3032	+		Myeloproliferative disorder(5;0.0393)	724			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	ENST00000540549.1	37	c.2235delT	CCDS47120.1																																																																																				0.408	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		20	22						20	22	---	---	---	---	-	106157271	T	-	106157271	7	5	7	1	0	1	0	1	0	0	0	0	15785	1403	49	0	2174	0	TET2	4	106157271	Frame_Shift_Del	DEL	T	TCGA-N5-A4RN-01A-12D-A28R-08	32968493	106157271	84997005	22	435										
MFSD8	256471	broad.mit.edu	37	chr4	128878655	128878655	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ttatgtatttctaatacttaCctacactgctgagaaacata	4	8	1	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr4:128878655C>A	ENST00000296468.3	-	3	282		c.e3+1		MFSD8_ENST00000541133.1_Splice_Site|MFSD8_ENST00000515130.1_Splice_Site|MFSD8_ENST00000513559.1_Splice_Site	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8						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)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						CTAATACTTACCTACACTGCT	0.299																																						ENST00000296468.3																			0				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						c.e3+1		major facilitator superfamily domain containing 8							85	93	90					4																	128878655		2201	4297	6498	SO:0001630	splice_region_variant	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128878655C>A	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.154+1G>T	4.37:g.128878655C>A			Somatic				MFSD8_ENST00000513559.1_Splice_Site|MFSD8_ENST00000541133.1_Splice_Site|MFSD8_ENST00000515130.1_Splice_Site		NM_152778.2	NP_689991.1	WXS	Illumina GAIIx	Phase_I	Q8NHS3	MFSD8_HUMAN			3	282	-								B2RDM1|B7Z205|Q8N2P3	Splice_Site	SNP	ENST00000296468.3	37		CCDS3736.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236143	0.22626	.	.	ENSG00000164073	ENST00000296468;ENST00000513559;ENST00000541133	.	.	.	4.57	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8591	0.52454	0.0:0.8237:0.1763:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MFSD8	129098105	1.000000	0.71417	0.996000	0.52242	0.267000	0.26476	4.631000	0.61304	1.120000	0.41904	0.655000	0.94253	.		0.299	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778	Intron	13	33	1	0	5.50884e-06	1	5.9637e-06	13	33					A	128878655	C	A	128878655	5	1	7	1	0	0	0	0	0	0	1	0	9547	521	18	5	1445	5	MFSD8	4	128878655	Splice_Site	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	22721384	128878655	62275621	23	436										
SMARCA5	8467	broad.mit.edu	37	chr4	144445586	144445586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	acagaaagctccaaagcaacCaatgtttgcactcgatttga	7	10	0	2			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr4:144445586C>T	ENST00000283131.3	+	4	948	c.486C>T	c.(484-486)acC>acT	p.T162T		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	162					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)					CCAAAGCAACCAATGTTTGCA	0.363																																						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.(484-486)acC>acT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							112	111	111					4																	144445586		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:144445586C>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.486C>T	4.37:g.144445586C>T			Somatic					p.T162T	NM_003601.3	NP_003592.3	WXS	Illumina GAIIx	Phase_I	O60264	SMCA5_HUMAN			4	948	+	all_hematologic(180;0.158)		162						Silent	SNP	ENST00000283131.3	37	c.486C>T	CCDS3761.1																																																																																				0.363	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			12	25	0	0	0	1	0	12	25					T	144445586	C	T	144445586	2	4	7	1	0	0	0	0	0	0	0	1	14786	581	21	3		3	SMARCA5	4	144445586	Silent	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	15566931	144445586	46708690	24	437										
FBXW7	55294	broad.mit.edu	37	chr4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	aaaccctaagagtggcatctCgagaaccgctaacaactctg	8	12	2	2			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		47	Substitution - Missense(46)|Unknown(1)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)	haematopoietic_and_lymphoid_tissue(16)|large_intestine(9)|endometrium(7)|urinary_tract(5)|upper_aerodigestive_tract(4)|lung(4)|stomach(1)|kidney(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1435-1437)cGa>cAa		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							85	80	82					4																	153247366		2203	4299	6502	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247366C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1436G>A	4.37:g.153247366C>T	ENSP00000281708:p.Arg479Gln		Somatic				FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q	p.R479Q	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			10	2665	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	479					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1436G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283775	0.95489	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.72	5.72	0.89469	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	0.50222	0.1603	N	0.12527	0.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.56529	-0.7964	10	0.56958	D	0.05	-12.7081	20.2406	0.98372	0.0:1.0:0.0:0.0	.	303;479;361;399	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	479;361;399;303	ENSP00000281708:R479Q;ENSP00000296555:R361Q;ENSP00000263981:R399Q;ENSP00000377528:R303Q	ENSP00000263981:R399Q	R	-	2	0	FBXW7	153466816	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.715000	0.84713	2.857000	0.98124	0.650000	0.86243	CGA		0.403	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			53	46	0	0	0	1	0	53	46					T	153247366	C	T	153247366	3	4	7	1	0	0	0	0	1	0	0	0	5777	884	31	1	699	1	FBXW7	4	153247366	Missense_Mutation	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	8801780	153247366	37906910	25	438										
MRPL36	64979	broad.mit.edu	37	chr5	1798835	1798835	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	agtccttgcagcgcttcttaAggacagtcttgtttttgaac	9	9	2	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr5:1798835A>G	ENST00000508987.1	-	2	351	c.215T>C	c.(214-216)cTt>cCt	p.L72P	MRPL36_ENST00000505059.2_Missense_Mutation_p.L72P|NDUFS6_ENST00000274137.5_5'Flank|MRPL36_ENST00000505818.1_Missense_Mutation_p.L72P|NDUFS6_ENST00000469176.1_5'Flank|MRPL36_ENST00000382647.7_Missense_Mutation_p.L72P			Q9P0J6	RM36_HUMAN	mitochondrial ribosomal protein L36	72					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)			breast(1)|lung(2)	3				GBM - Glioblastoma multiforme(108;0.241)		GCGCTTCTTAAGGACAGTCTT	0.592																																						ENST00000508987.1																			0				breast(1)|lung(2)	3						c.(214-216)cTt>cCt		mitochondrial ribosomal protein L36																																				SO:0001583	missense	64979				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr5:1798835A>G	AB049654	CCDS3865.1	5p15.3	2012-09-13			ENSG00000171421	ENSG00000171421		"Mitochondrial ribosomal proteins / large subunits"	14490	protein-coding gene	gene with protein product	"putative BRCA1-interacting protein", "39S ribosomal protein L36, mitochondrial"	611842				11543634	Standard	NM_032479		Approved	BRIP1, RPMJ, L36mt, PRPL36, MRP-L36	uc003jcx.4	Q9P0J6	OTTHUMG00000090373	ENST00000508987.1:c.215T>C	5.37:g.1798835A>G	ENSP00000423399:p.Leu72Pro		Somatic				MRPL36_ENST00000382647.7_Missense_Mutation_p.L72P|MRPL36_ENST00000505818.1_Missense_Mutation_p.L72P|MRPL36_ENST00000505059.2_Missense_Mutation_p.L72P	p.L72P			WXS	Illumina GAIIx	Phase_I	Q9P0J6	RM36_HUMAN		GBM - Glioblastoma multiforme(108;0.241)	2	351	-			72					A4UCS0|B2R4Z2|Q3SWV6|Q9UKL7	Missense_Mutation	SNP	ENST00000508987.1	37	c.215T>C	CCDS3865.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019018	0.35606	.	.	ENSG00000171421	ENST00000505818;ENST00000382647;ENST00000505059;ENST00000508987	.	.	.	4.18	4.18	0.49190	.	0.571694	0.15199	N	0.275113	T	0.77818	0.4187	M	0.82132	2.575	0.49687	D	0.999816	D	0.76494	0.999	D	0.69307	0.963	T	0.79065	-0.1956	9	0.87932	D	0	-21.6527	10.8292	0.46650	1.0:0.0:0.0:0.0	.	72	Q9P0J6	RM36_HUMAN	P	72	.	ENSP00000372093:L72P	L	-	2	0	MRPL36	1851835	1.000000	0.71417	0.048000	0.18961	0.020000	0.10135	6.267000	0.72546	1.544000	0.49359	0.454000	0.30748	CTT		0.592	MRPL36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365908.2	NM_032479		8	365	0	0	0	1	0	8	365					G	1798835	A	G	1798835	3	3	7	1	0	0	0	0	1	0	0	0	9808	72	3	4	100	4	MRPL36	5	1798835	Missense_Mutation	SNP	A	TCGA-N5-A4RN-01A-12D-A28R-08		1798835	179116425	26	439										
IRX2	153572	broad.mit.edu	37	chr5	2749656	2749656	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	aggcgccggcgcgcgttggcGaaccaggtggagacctgggt	19	11	0	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr5:2749656G>C	ENST00000382611.6	-	2	743	c.495C>G	c.(493-495)ttC>ttG	p.F165L	C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000457752.2_5'Flank|IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.F165L|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000505778.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	165					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)		GCGCGTTGGCGAACCAGGTGG	0.597																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(493-495)ttC>ttG		iroquois homeobox 2							161	141	148					5																	2749656		2203	4298	6501	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749656G>C	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.495C>G	5.37:g.2749656G>C	ENSP00000372056:p.Phe165Leu		Somatic				IRX2_ENST00000302057.5_Missense_Mutation_p.F165L|IRX2_ENST00000502957.1_5'UTR	p.F165L	NM_001134222.1	NP_001127694.1	WXS	Illumina GAIIx	Phase_I	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	743	-			165					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.495C>G	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173469	0.78452	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.96745	-4.11;-4.11;-4.11	4.85	2.65	0.31530	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97666	0.9235	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97532	1.0080	10	0.87932	D	0	-18.5457	10.4329	0.44417	0.3012:0.0:0.6988:0.0	.	165	Q9BZI1	IRX2_HUMAN	L	165;165;72	ENSP00000372056:F165L;ENSP00000307006:F165L;ENSP00000426151:F72L	ENSP00000307006:F165L	F	-	3	2	IRX2	2802656	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.170000	0.42443	1.020000	0.39573	0.655000	0.94253	TTC		0.597	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			47	873	0	0	0	1	0	47	873					C	2749656	G	C	2749656	3	2	7	1	0	0	0	0	1	0	0	0	7853	1049	37	2	932	2	IRX2	5	2749656	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	950821	2749656	178165604	27	440										
UGT3A1	133688	broad.mit.edu	37	chr5	35954581	35954581	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ccaccactgccgacttgtacCtgttggcggagacagagagg	13	12	0	2			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr5:35954581C>T	ENST00000274278.3	-	7	1653		c.e7-1		UGT3A1_ENST00000513233.1_5'Flank	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1							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)			CGACTTGTACCTGTTGGCGGA	0.547																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.e7-1		UDP glycosyltransferase 3 family, polypeptide A1							38	35	36					5																	35954581		2203	4300	6503	SO:0001630	splice_region_variant	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35954581C>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.1296-1G>A	5.37:g.35954581C>T			Somatic						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)		7	1653	-	all_lung(31;0.000197)							G5E961|Q8IYS9|Q8NAW4|Q96DM6	Splice_Site	SNP	ENST00000274278.3	37		CCDS3913.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302758	0.23736	.	.	ENSG00000145626	ENST00000274278	.	.	.	3.39	3.39	0.38822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4126	0.67124	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UGT3A1	35990338	1.000000	0.71417	0.998000	0.56505	0.074000	0.17049	5.627000	0.67784	1.844000	0.53588	0.411000	0.27672	.		0.547	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404	Intron	6	26	0	0	0	1	0	6	26					T	35954581	C	T	35954581	5	4	7	1	0	0	0	0	0	0	1	0	16978	695	24	3	280	3	UGT3A1	5	35954581	Splice_Site	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	33204925	35954581	144960679	28	441										
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100485	27100485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	gccttagtcaccgccttcttGgagccctttttcggggcggg	13	13	2	0	rs115912638	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:27100485G>A	ENST00000607124.1	-	1	44	c.45C>T	c.(43-45)tcC>tcT	p.S15S	HIST1H2BJ_ENST00000541790.1_Silent_p.S15S|HIST1H2BJ_ENST00000339812.2_Silent_p.S15S|HIST1H2AG_ENST00000359193.2_5'Flank			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	15					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)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CCGCCTTCTTGGAGCCCTTTT	0.537													G|||	15	0.00299521	0	0	5008	,	,		17563	0.0149		0	False		,,,				2504	0					ENST00000607124.1																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						c.(43-45)tcC>tcT		histone cluster 1, H2bj							91	92	91					6																	27100485		2203	4300	6503	SO:0001819	synonymous_variant	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100485G>A	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"Histones / Replication-dependent"	4761	protein-coding gene	gene with protein product		615044	"H2B histone family, member R", "histone 1, H2bj"	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.45C>T	6.37:g.27100485G>A			Somatic				HIST1H2BJ_ENST00000339812.2_Silent_p.S15S|HIST1H2BJ_ENST00000541790.1_Silent_p.S15S	p.S15S			WXS	Illumina GAIIx	Phase_I	P06899	H2B1J_HUMAN			1	44	-			15					B2R4J4|O60816	Silent	SNP	ENST00000607124.1	37	c.45C>T	CCDS4618.1																																																																																				0.537	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		41	160	0	0	0	1	0	41	160					A	27100485	G	A	27100485	2	1	7	1	0	0	0	0	0	0	0	1	7158	1335	47	3		3	HIST1H2BJ	6	27100485	Silent	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08		27100485	144014582	29	442										
NOTCH4	4855	broad.mit.edu	37	chr6	32169084	32169084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	cagagtcagggacagcacccGggccagggcaaacagctgct	14	13	1	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:32169084G>A	ENST00000375023.3	-	22	4087	c.3949C>T	c.(3949-3951)Cgg>Tgg	p.R1317W		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1317					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						GACAGCACCCGGGCCAGGGCA	0.642																																						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.(3949-3951)Cgg>Tgg		notch 4							40	45	43					6																	32169084		1510	2709	4219	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32169084G>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.3949C>T	6.37:g.32169084G>A	ENSP00000364163:p.Arg1317Trp		Somatic					p.R1317W	NM_004557.3	NP_004548.3	WXS	Illumina GAIIx	Phase_I	Q99466	NOTC4_HUMAN			22	4087	-			1317					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3949C>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.567889	0.65651	.	.	ENSG00000204301	ENST00000375023	D	0.84223	-1.82	4.37	4.37	0.52481	.	0.280219	0.19569	N	0.111132	D	0.85080	0.5615	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87424	0.2384	10	0.87932	D	0	.	14.505	0.67746	0.0:0.0:1.0:0.0	.	1317	Q99466	NOTC4_HUMAN	W	1317	ENSP00000364163:R1317W	ENSP00000364163:R1317W	R	-	1	2	NOTCH4	32277062	1.000000	0.71417	0.997000	0.53966	0.814000	0.46013	4.471000	0.60182	2.298000	0.77334	0.456000	0.33151	CGG		0.642	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			17	85	0	0	0	1	0	17	85					A	32169084	G	A	32169084	3	1	7	1	0	0	0	0	1	0	0	0	10560	1115	39	1	2098	1	NOTCH4	6	32169084	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	5068599	32169084	138945983	30	443										
SYNGAP1	8831	broad.mit.edu	37	chr6	33391325	33391325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	atcgtcctggttggaaccctCggttctgcatcatctcgggg	12	12	3	0			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:33391325C>T	ENST00000418600.2	+	2	240	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R47W	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	47					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTGGAACCCTCGGTTCTGCAT	0.542																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(139-141)Cgg>Tgg		synaptic Ras GTPase activating protein 1							207	182	190					6																	33391325		2203	4300	6503	SO:0001583	missense	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33391325C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.139C>T	6.37:g.33391325C>T	ENSP00000403636:p.Arg47Trp		Somatic				SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R47W	p.R47W	NM_006772.2	NP_006763.2	WXS	Illumina GAIIx	Phase_I	Q96PV0	SYGP1_HUMAN			2	240	+			47					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.139C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996905	0.54147	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372	T;T	0.19105	2.17;2.26	3.73	3.73	0.42828	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.287715	0.26352	N	0.024869	T	0.21468	0.0517	L	0.40543	1.245	0.33951	D	0.64439	D;D;D	0.89917	0.994;0.996;1.0	D;D;P	0.69307	0.919;0.963;0.908	T	0.02411	-1.1163	10	0.87932	D	0	.	8.7924	0.34859	0.2249:0.7751:0.0:0.0	.	47;47;47	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	W	47	ENSP00000293748:R47W;ENSP00000403636:R47W	ENSP00000293748:R47W	R	+	1	2	SYNGAP1	33499303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.839000	0.48207	2.098000	0.63641	0.555000	0.69702	CGG		0.542	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		43	172	0	0	0	1	0	43	172					T	33391325	C	T	33391325	3	4	7	1	0	0	0	0	1	0	0	0	15462	875	31	1	145	1	SYNGAP1	6	33391325	Missense_Mutation	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	1222241	33391325	137723742	31	444										
KCNK5	8645	broad.mit.edu	37	chr6	39162482	39162482	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	gcggcaccccgaagagaccaTagaaaacacagaagaggcga	12	11	0	4			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:39162482T>C	ENST00000359534.3	-	3	691	c.353A>G	c.(352-354)tAt>tGt	p.Y118C		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	118					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						GAAGAGACCATAGAAAACACA	0.582																																						ENST00000359534.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(352-354)tAt>tGt		potassium channel, subfamily K, member 5							84	92	89					6																	39162482		2203	4300	6503	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39162482T>C	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.353A>G	6.37:g.39162482T>C	ENSP00000352527:p.Tyr118Cys		Somatic					p.Y118C	NM_003740.3	NP_003731.1	WXS	Illumina GAIIx	Phase_I	O95279	KCNK5_HUMAN			3	691	-			118					B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.353A>G	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.907017	0.52333	.	.	ENSG00000164626	ENST00000359534	T	0.36520	1.25	5.57	4.4	0.53042	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.40347	0.1113	L	0.46947	1.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41270	-0.9518	10	0.87932	D	0	.	11.3151	0.49388	0.0:0.0713:0.0:0.9287	.	118	O95279	KCNK5_HUMAN	C	118	ENSP00000352527:Y118C	ENSP00000352527:Y118C	Y	-	2	0	KCNK5	39270460	1.000000	0.71417	0.989000	0.46669	0.046000	0.14306	8.040000	0.89188	0.943000	0.37553	0.459000	0.35465	TAT		0.582	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		39	177	0	0	0	1	0	39	177					C	39162482	T	C	39162482	3	2	7	1	0	0	0	0	1	0	0	0	8078	1406	49	4	1158	4	KCNK5	6	39162482	Missense_Mutation	SNP	T	TCGA-N5-A4RN-01A-12D-A28R-08	5771157	39162482	131952585	32	445										
MCM3	4172	broad.mit.edu	37	chr6	52143605	52143605	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	agcagagaaagagggctgagCatccttgctcatctgcttaa	11	9	2	3			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:52143605C>A	ENST00000229854.7	-	6	890	c.814G>T	c.(814-816)Gct>Tct	p.A272S	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.A226S|MCM3_ENST00000596288.1_Missense_Mutation_p.A317S			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	272					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)					GAGGGCTGAGCATCCTTGCTC	0.438																																						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.(949-951)Gct>Tct		minichromosome maintenance complex component 3							94	91	92					6																	52143605		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.chr6:52143605C>A	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.814G>T	6.37:g.52143605C>A	ENSP00000229854:p.Ala272Ser		Somatic				MCM3_ENST00000419835.2_Missense_Mutation_p.A226S|MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000229854.7_Missense_Mutation_p.A272S	p.A317S	NM_002388.4	NP_002379.3	WXS	Illumina GAIIx	Phase_I	P25205	MCM3_HUMAN			6	976	-	Lung NSC(77;0.0931)		272			MCM.		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.949G>T		.	.	.	.	.	.	.	.	.	.	C	10.97	1.502011	0.26949	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.02606	4.31;4.23	5.55	-2.3	0.06785	.	0.743115	0.13433	N	0.388258	T	0.00552	0.0018	N	0.16368	0.405	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.42344	-0.9457	10	0.33141	T	0.24	-0.6378	6.2722	0.20961	0.0:0.3651:0.2147:0.4202	.	226;272	B4DUQ9;P25205	.;MCM3_HUMAN	S	272;226	ENSP00000229854:A272S;ENSP00000388647:A226S	ENSP00000229854:A272S	A	-	1	0	MCM3	52251564	0.000000	0.05858	0.084000	0.20598	0.953000	0.61014	-0.230000	0.09083	-0.673000	0.05259	0.655000	0.94253	GCT		0.438	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			10	109	1	0	0.0581538	1	0.0591564	10	109					A	52143605	C	A	52143605	3	1	7	1	0	0	0	0	1	0	0	0	9396	710	25	5	1660	5	MCM3	6	52143605	Missense_Mutation	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	12981123	52143605	118971462	33	446										
IMPG1	3617	broad.mit.edu	37	chr6	76715225	76715225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	tgtgtctcttaaagatggccGtaagttgcatctctgtggag	12	7	2	1	rs370162508		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:76715225G>A	ENST00000369950.3	-	10	1103	c.914C>T	c.(913-915)aCg>aTg	p.T305M	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)				AAAGATGGCCGTAAGTTGCAT	0.448													G|||	1	0.000199681	0	0	5008	,	,		17487	0.001		0	False		,,,				2504	0				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.(913-915)aCg>aTg		interphotoreceptor matrix proteoglycan 1		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	110	99	103		914	-2.4	0	6		103	0,8600		0,0,4300	no	missense	IMPG1	NM_001563.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	305/798	76715225	1,13005	2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76715225G>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.914C>T	6.37:g.76715225G>A	ENSP00000358966:p.Thr305Met		Somatic				IMPG1_ENST00000369963.3_3'UTR	p.T305M	NM_001563.2	NP_001554.2	WXS	Illumina GAIIx	Phase_I	Q17R60	IMPG1_HUMAN			10	1103	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	305			SEA 1.			Missense_Mutation	SNP	ENST00000369950.3	37	c.914C>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	1.350	-0.591715	0.03799	2.27E-4	0.0	ENSG00000112706	ENST00000369950	T	0.39997	1.05	5.82	-2.44	0.06502	SEA (2);	1.034680	0.07601	N	0.923616	T	0.06325	0.0163	N	0.03177	-0.4	0.09310	N	1	B	0.25772	0.134	B	0.22753	0.041	T	0.33979	-0.9847	10	0.18710	T	0.47	.	11.2022	0.48747	0.4755:0.0:0.5245:0.0	.	305	Q17R60	IMPG1_HUMAN	M	305	ENSP00000358966:T305M	ENSP00000358966:T305M	T	-	2	0	IMPG1	76771945	0.000000	0.05858	0.002000	0.10522	0.392000	0.30506	0.158000	0.16422	-0.381000	0.07882	0.585000	0.79938	ACG		0.448	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		17	94	0	0	0	1	0	17	94					A	76715225	G	A	76715225	3	1	7	1	0	0	0	0	1	0	0	0	7737	1145	40	1	1511	1	IMPG1	6	76715225	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	24571620	76715225	94399842	34	447										
DOPEY1	23033	broad.mit.edu	37	chr6	83846928	83846928	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	catcacatcaaaaggaaatgGtgaaaagccacttaccatgg	8	9	2	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:83846928G>T	ENST00000349129.2	+	21	3427	c.3167G>T	c.(3166-3168)gGt>gTt	p.G1056V	DOPEY1_ENST00000369739.3_Missense_Mutation_p.G1047V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.G1037V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1056					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)		AAAGGAAATGGTGAAAAGCCA	0.338																																						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.(3166-3168)gGt>gTt		dopey family member 1							64	63	63					6																	83846928		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83846928G>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3167G>T	6.37:g.83846928G>T	ENSP00000195654:p.Gly1056Val		Somatic				DOPEY1_ENST00000237163.5_Missense_Mutation_p.G1037V|DOPEY1_ENST00000369739.3_Missense_Mutation_p.G1047V	p.G1056V	NM_015018.3	NP_055833.2	WXS	Illumina GAIIx	Phase_I	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	3427	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1056					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.3167G>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.695021	0.00731	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.21734	1.99;1.99	5.59	5.59	0.84812	.	0.326021	0.35585	N	0.003119	T	0.02571	0.0078	N	0.02011	-0.69	0.26269	N	0.97845	B;B;B	0.24823	0.112;0.003;0.003	B;B;B	0.21151	0.033;0.006;0.006	T	0.33445	-0.9868	10	0.28530	T	0.3	.	8.65	0.34029	0.1287:0.0:0.8713:0.0	.	947;1047;1056	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	V	1056;1037;1037	ENSP00000195654:G1056V;ENSP00000237163:G1037V	ENSP00000237163:G1037V	G	+	2	0	DOPEY1	83903647	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	2.844000	0.48246	2.638000	0.89438	0.460000	0.39030	GGT		0.338	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		9	47	1	0	0.00621372	1	0.00637581	9	47					T	83846928	G	T	83846928	3	4	7	1	0	0	0	0	1	0	0	0	4709	1261	44	5	3241	5	DOPEY1	6	83846928	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	7131703	83846928	87268139	35	448										
SYNE1	23345	broad.mit.edu	37	chr6	152823805	152823805	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	cagtgcttgcattgtggatgTcaggataatgtttcagaaac	11	6	2	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:152823805T>A	ENST00000367255.5	-	10	1452	c.851A>T	c.(850-852)gAc>gTc	p.D284V	SYNE1_ENST00000413186.2_Missense_Mutation_p.D284V|SYNE1_ENST00000367253.4_Missense_Mutation_p.D284V|SYNE1_ENST00000341594.5_Missense_Mutation_p.D284V|SYNE1_ENST00000265368.4_Missense_Mutation_p.D284V|SYNE1_ENST00000423061.1_Missense_Mutation_p.D291V|SYNE1_ENST00000448038.1_Missense_Mutation_p.D291V|SYNE1_ENST00000466159.2_Missense_Mutation_p.D284V|SYNE1_ENST00000367248.3_Missense_Mutation_p.D291V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	284	Actin-binding.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			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)		ATTGTGGATGTCAGGATAATG	0.373										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(850-852)gAc>gTc		spectrin repeat containing, nuclear envelope 1							170	147	155					6																	152823805		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.chr6:152823805T>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.851A>T	6.37:g.152823805T>A	ENSP00000356224:p.Asp284Val	HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000367248.3_Missense_Mutation_p.D291V|SYNE1_ENST00000466159.2_Missense_Mutation_p.D284V|SYNE1_ENST00000423061.1_Missense_Mutation_p.D291V|SYNE1_ENST00000265368.4_Missense_Mutation_p.D284V|SYNE1_ENST00000448038.1_Missense_Mutation_p.D291V|SYNE1_ENST00000341594.5_Missense_Mutation_p.D284V|SYNE1_ENST00000367253.4_Missense_Mutation_p.D284V|SYNE1_ENST00000413186.2_Missense_Mutation_p.D284V	p.D284V	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)	10	1452	-		Ovarian(120;0.0955)	284			Actin-binding.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.851A>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	23.3	4.403855	0.83230	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;D;D	0.91843	0.51;0.51;0.42;0.51;0.64;-2.3;-2.46;-2.44;-2.72;-2.92	4.83	4.83	0.62350	.	0.125962	0.34802	U	0.003678	D	0.93354	0.7881	L	0.55017	1.72	0.80722	D	1	B;P;P;P;D	0.76494	0.374;0.592;0.842;0.592;0.999	B;B;P;B;D	0.69824	0.247;0.19;0.675;0.19;0.966	D	0.94345	0.7574	10	0.72032	D	0.01	.	14.4735	0.67531	0.0:0.0:0.0:1.0	.	284;284;284;284;291	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	V	284;291;284;291;284;284;291;284;284;284	ENSP00000356224:D284V;ENSP00000396024:D291V;ENSP00000265368:D284V;ENSP00000390975:D291V;ENSP00000341887:D284V;ENSP00000356222:D284V;ENSP00000356217:D291V;ENSP00000414510:D284V;ENSP00000446021:D284V;ENSP00000441264:D284V	ENSP00000265368:D284V	D	-	2	0	SYNE1	152865498	1.000000	0.71417	0.956000	0.39512	0.976000	0.68499	7.509000	0.81698	1.826000	0.53198	0.514000	0.50259	GAC		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	44	0	0	0	1	0	9	44					A	152823805	T	A	152823805	3	1	7	1	0	0	0	0	1	0	0	0	15460	1667	58	4	26163	4	SYNE1	6	152823805	Missense_Mutation	SNP	T	TCGA-N5-A4RN-01A-12D-A28R-08	68976877	152823805	18291262	36	449										
TMEM195	392636	broad.mit.edu	37	chr7	15405139	15405139	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	tacctaaacaaatgtcttacCtcaaaagcagatgacaatga	5	9	2	3			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr7:15405139C>A	ENST00000342526.3	-	12	1432	c.1263G>T	c.(1261-1263)gaG>gaT	p.E421D		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	421					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AATGTCTTACCTCAAAAGCAG	0.408																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.e12+1		alkylglycerol monooxygenase							88	80	83					7																	15405139		2203	4300	6503	SO:0001630	splice_region_variant	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15405139C>A		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"Fatty acid hydroxylase domain containing"	33784	protein-coding gene	gene with protein product		613738	"transmembrane protein 195"	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.1263+1G>T	7.37:g.15405139C>A			Somatic					p.E421_splice	NM_001004320.1	NP_001004320.1	WXS	Illumina GAIIx	Phase_I	Q6ZNB7	ALKMO_HUMAN			12	1432	-			421					A4D114|A6NCH5	Splice_Site	SNP	ENST00000342526.3	37	c.1263_splice	CCDS34604.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.38|13.38	2.220975|2.220975	0.39201|0.39201	.|.	.|.	ENSG00000187546|ENSG00000187546	ENST00000342526;ENST00000418075|ENST00000407277	T|.	0.31769|.	1.48|.	5.63|5.63	4.75|4.75	0.60458|0.60458	.|.	0.187457|.	0.44097|.	D|.	0.000486|.	T|T	0.63129|0.63129	0.2485|0.2485	M|M	0.61703|0.61703	1.905|1.905	0.39925|0.39925	D|D	0.974204|0.974204	D|.	0.60575|.	0.988|.	P|.	0.54759|.	0.76|.	T|T	0.63915|0.63915	-0.6529|-0.6529	9|5	.|.	.|.	.|.	-25.221|-25.221	10.1328|10.1328	0.42689|0.42689	0.0:0.8417:0.0:0.1583|0.0:0.8417:0.0:0.1583	.|.	421|.	Q6ZNB7|.	ALKMO_HUMAN|.	D|F	421;63|52	ENSP00000341662:E421D|.	.|.	E|V	-|-	3|1	2|0	AGMO|AGMO	15371664|15371664	1.000000|1.000000	0.71417|0.71417	0.885000|0.885000	0.34714|0.34714	0.004000|0.004000	0.04260|0.04260	3.152000|3.152000	0.50677|0.50677	1.377000|1.377000	0.46286|0.46286	-0.140000|-0.140000	0.14226|0.14226	GAG|GTC		0.408	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320	Missense_Mutation	30	34	1	0	7.26314e-15	1	8.16239e-15	30	34					A	15405139	C	A	15405139	5	1	7	1	0	0	0	0	0	0	1	0	16132	695	24	5	82	5	TMEM195	7	15405139	Splice_Site	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08		15405139	143733524	37	450										
ZNF680	340252	broad.mit.edu	37	chr7	63981662	63981662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ttgccacattcttcacatttGtagggtttctctctagcatg	7	10	4	0			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr7:63981662G>A	ENST00000309683.6	-	4	1621	c.1470C>T	c.(1468-1470)taC>taT	p.Y490Y	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				CTTCACATTTGTAGGGTTTCT	0.383																																						ENST00000309683.6																			0				breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27						c.(1468-1470)taC>taT		zinc finger protein 680							65	67	66					7																	63981662		2203	4300	6503	SO:0001819	synonymous_variant	340252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63981662G>A	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1470C>T	7.37:g.63981662G>A			Somatic					p.Y490Y	NM_178558.4	NP_848653.2	WXS	Illumina GAIIx	Phase_I	Q8NEM1	ZN680_HUMAN			4	1621	-		Lung NSC(55;0.118)|all_lung(88;0.243)	490					B3KVJ4|Q6ZNF3|Q8NC79	Silent	SNP	ENST00000309683.6	37	c.1470C>T	CCDS34644.1																																																																																				0.383	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		6	102	0	0	0	1	0	6	102					A	63981662	G	A	63981662	2	1	7	1	0	0	0	0	0	0	0	1	18102	1372	48	3		3	ZNF680	7	63981662	Silent	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	48576523	63981662	95157001	38	451										
TOX	9760	broad.mit.edu	37	chr8	59728107	59728107	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ttcggcttgggggctatgttCctggggagactaggatgcat	16	7	0	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr8:59728107C>A	ENST00000361421.1	-	7	1402	c.1182G>T	c.(1180-1182)agG>agT	p.R394S	RNU4-50P_ENST00000364361.1_RNA	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	394						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GGGCTATGTTCCTGGGGAGAC	0.567																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(1180-1182)agG>agT		thymocyte selection-associated high mobility group box							156	136	143					8																	59728107		2203	4300	6503	SO:0001583	missense	9760					nucleus	DNA binding	g.chr8:59728107C>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.1182G>T	8.37:g.59728107C>A	ENSP00000354842:p.Arg394Ser		Somatic					p.R394S	NM_014729.2	NP_055544.1	WXS	Illumina GAIIx	Phase_I	O94900	TOX_HUMAN			7	1402	-		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)	394					Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	c.1182G>T	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674103	0.47781	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	T	0.14391	2.51	5.98	2.17	0.27698	.	0.000000	0.85682	D	0.000000	T	0.09730	0.0239	N	0.24115	0.695	0.52099	D	0.999943	D	0.53885	0.963	B	0.44224	0.444	T	0.20240	-1.0281	9	.	.	.	.	10.3107	0.43706	0.0:0.731:0.0:0.269	.	394	O94900	TOX_HUMAN	S	394;144	ENSP00000354842:R394S	.	R	-	3	2	TOX	59890661	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.556000	0.45862	0.423000	0.26033	-0.229000	0.12294	AGG		0.567	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		25	50	1	0	1.55469e-16	1	1.76398e-16	25	50					A	59728107	C	A	59728107	3	1	7	1	0	0	0	0	1	0	0	0	16392	854	30	2	410	2	TOX	8	59728107	Missense_Mutation	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08		59728107	86635915	39	452										
LRRCC1	85444	broad.mit.edu	37	chr8	86038971	86038971	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	agagagaagagatggagagcTgagcaagccgaaaataaact	13	5	0	5			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr8:86038971T>G	ENST00000360375.3	+	9	1469	c.1320T>G	c.(1318-1320)gcT>gcG	p.A440A	LRRCC1_ENST00000414626.2_Silent_p.A420A	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	440					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GATGGAGAGCTGAGCAAGCCG	0.373																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1258-1260)gcT>gcG		leucine rich repeat and coiled-coil centrosomal protein 1							74	72	73					8																	86038971		1870	4107	5977	SO:0001819	synonymous_variant	85444				cell division|mitosis	centriole|nucleus		g.chr8:86038971T>G	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1320T>G	8.37:g.86038971T>G			Somatic				LRRCC1_ENST00000360375.3_Silent_p.A440A	p.A420A			WXS	Illumina GAIIx	Phase_I	Q9C099	LRCC1_HUMAN			8	2149	+			440					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Silent	SNP	ENST00000360375.3	37	c.1260T>G	CCDS43750.1																																																																																				0.373	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		13	24	0	0	0	1	0	13	24					G	86038971	T	G	86038971	2	3	7	1	0	0	0	0	0	0	0	1	9035	1567	55	4		4	LRRCC1	8	86038971	Silent	SNP	T	TCGA-N5-A4RN-01A-12D-A28R-08	26310864	86038971	60325051	40	453										
RAD54B	25788	broad.mit.edu	37	chr8	95403998	95403998	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	aatctgtagtgctcctggtcGgcaaaagacaacattctcta	8	10	2	1	rs377463964		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr8:95403998G>A	ENST00000336148.5	-	10	1772	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	550					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GCTCCTGGTCGGCAAAAGACA	0.393								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1648-1650)Cga>Tga	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)		G	stop/ARG,stop/ARG	0,4406		0,0,2203	120	126	124		1096,1648	4.1	1	8		124	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	RAD54B	NM_001205263.1,NM_012415.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	366/727,550/911	95403998	1,13005	2203	4300	6503	SO:0001587	stop_gained	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95403998G>A	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1648C>T	8.37:g.95403998G>A	ENSP00000336606:p.Arg550*		Somatic					p.R550*	NM_012415.3	NP_036547.1	WXS	Illumina GAIIx	Phase_I	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		10	1772	-	Breast(36;4.5e-05)		0					F6WBS8	Nonsense_Mutation	SNP	ENST00000336148.5	37	c.1648C>T	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797993	0.90538	0.0	1.16E-4	ENSG00000197275	ENST00000336148;ENST00000546218	.	.	.	4.96	4.08	0.47627	.	0.595728	0.18049	N	0.153376	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.376	13.6236	0.62150	0.0755:0.0:0.9245:0.0	.	.	.	.	X	550;222	.	ENSP00000336606:R550X	R	-	1	2	RAD54B	95473174	1.000000	0.71417	0.998000	0.56505	0.719000	0.41307	2.895000	0.48648	1.206000	0.43276	-0.145000	0.13849	CGA		0.393	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		40	96	0	0	0	1	0	40	96					A	95403998	G	A	95403998	4	1	7	1	0	0	0	0	0	1	0	0	13007	1124	39	1	1108	1	RAD54B	8	95403998	Nonsense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	9365027	95403998	50960024	41	454										
OR1N2	138882	broad.mit.edu	37	chr9	125315642	125315642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	gaacctgctcattatcctggCcatcagctctgacccacacc	6	17	3	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr9:125315642C>A	ENST00000373688.2	+	1	252	c.194C>A	c.(193-195)gCc>gAc	p.A65D		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ATTATCCTGGCCATCAGCTCT	0.522																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(193-195)gCc>gAc		olfactory receptor, family 1, subfamily N, member 2							244	218	227					9																	125315642		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315642C>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.194C>A	9.37:g.125315642C>A	ENSP00000362792:p.Ala65Asp		Somatic					p.A65D	NM_001004457.1	NP_001004457.1	WXS	Illumina GAIIx	Phase_I	Q8NGR9	OR1N2_HUMAN			1	252	+			65					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.194C>A	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944973	0.34283	.	.	ENSG00000171501	ENST00000373688	T	0.10573	2.86	4.37	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.143263	0.31784	N	0.007072	T	0.34395	0.0896	M	0.92026	3.265	0.09310	N	1	D	0.65815	0.995	D	0.69654	0.965	T	0.15178	-1.0446	10	0.87932	D	0	.	7.3673	0.26781	0.0:0.7:0.0:0.3	.	65	Q8NGR9	OR1N2_HUMAN	D	65	ENSP00000362792:A65D	ENSP00000362792:A65D	A	+	2	0	OR1N2	124355463	0.000000	0.05858	0.996000	0.52242	0.290000	0.27261	-0.053000	0.11846	0.454000	0.26884	0.650000	0.86243	GCC		0.522	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			45	44	1	0	2.43468e-25	1	2.81659e-25	45	44					A	125315642	C	A	125315642	3	1	7	1	0	0	0	0	1	0	0	0	10979	739	26	5	196	5	OR1N2	9	125315642	Missense_Mutation	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08		125315642	15897789	42	455										
ZNF33B	7582	broad.mit.edu	37	chr10	43088129	43088129	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	atttgacttttgagagaaggTtttcctgcatgtgttacatt	9	5	0	3			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:43088129T>G	ENST00000359467.3	-	5	2383	c.2269A>C	c.(2269-2271)Acc>Ccc	p.T757P	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	757					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						TGAGAGAAGGTTTTCCTGCAT	0.358																																					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.(2269-2271)Acc>Ccc		zinc finger protein 33B							151	146	147					10																	43088129		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088129T>G	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.2269A>C	10.37:g.43088129T>G	ENSP00000352444:p.Thr757Pro		Somatic				ZNF33B_ENST00000486187.1_RNA	p.T757P	NM_006955.1	NP_008886.1	WXS	Illumina GAIIx	Phase_I	Q06732	ZN33B_HUMAN			5	2383	-			757					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.2269A>C	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	10.33	1.320645	0.23994	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.21031	2.03	2.5	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.229512	0.22424	N	0.060257	T	0.33469	0.0864	M	0.64404	1.975	0.22066	N	0.999384	D	0.76494	0.999	D	0.71184	0.972	T	0.09250	-1.0683	10	0.66056	D	0.02	.	2.9351	0.05811	0.0:0.1463:0.2648:0.5889	.	757	Q06732	ZN33B_HUMAN	P	757;723	ENSP00000352444:T757P	ENSP00000352444:T757P	T	-	1	0	ZNF33B	42408135	0.000000	0.05858	0.976000	0.42696	0.526000	0.34562	-1.626000	0.02035	0.360000	0.24265	0.336000	0.21669	ACC		0.358	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		27	116	0	0	0	1	0	27	116					G	43088129	T	G	43088129	3	3	7	1	0	0	0	0	1	0	0	0	17870	1725	60	4	71	4	ZNF33B	10	43088129	Missense_Mutation	SNP	T	TCGA-N5-A4RN-01A-12D-A28R-08		43088129	92446618	43	456										
MYPN	84665	broad.mit.edu	37	chr10	69918245	69918245	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ttcttcttatcattatagatGctacaaaatttgtcagcttc	4	8	4	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:69918245G>T	ENST00000358913.5	+	7	1808	c.1320G>T	c.(1318-1320)atG>atT	p.M440I	RN7SKP202_ENST00000410439.1_RNA|MYPN_ENST00000354393.2_Missense_Mutation_p.M165I|MYPN_ENST00000373675.3_Missense_Mutation_p.M440I|MYPN_ENST00000540630.1_Missense_Mutation_p.M440I	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	440	Ig-like 2.|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						CATTATAGATGCTACAAAATT	0.363																																						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.(1318-1320)atG>atT		myopalladin							85	84	85					10																	69918245		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69918245G>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1320G>T	10.37:g.69918245G>T	ENSP00000351790:p.Met440Ile		Somatic				MYPN_ENST00000373675.3_Missense_Mutation_p.M440I|MYPN_ENST00000540630.1_Missense_Mutation_p.M440I|MYPN_ENST00000354393.2_Missense_Mutation_p.M165I	p.M440I	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	WXS	Illumina GAIIx	Phase_I	Q86TC9	MYPN_HUMAN			7	1808	+			440			Ig-like 2.|Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.1320G>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964357	0.74131	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630;ENST00000373675	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.143577	0.64402	D	0.000005	T	0.55657	0.1934	N	0.04203	-0.255	0.41418	D	0.987782	P;D;P;P	0.57899	0.627;0.981;0.758;0.514	B;P;B;B	0.53593	0.29;0.73;0.362;0.294	T	0.58578	-0.7612	9	.	.	.	.	15.1711	0.72875	0.0:0.1405:0.8595:0.0	.	440;440;165;440	F5GWA6;Q86TC9-3;Q86TC9-2;Q86TC9	.;.;.;MYPN_HUMAN	I	165;165;440;440;440	ENSP00000346369:M165I;ENSP00000351790:M440I;ENSP00000441668:M440I;ENSP00000362779:M440I	.	M	+	3	0	MYPN	69588251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.888000	0.56204	2.661000	0.90470	0.655000	0.94253	ATG		0.363	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		4	37	1	0	0.000602214	1	0.000634476	4	37					T	69918245	G	T	69918245	3	4	7	1	0	0	0	0	1	0	0	0	10107	1319	46	5	1342	5	MYPN	10	69918245	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	26830116	69918245	65616502	44	457										
KIAA0913	23053	broad.mit.edu	37	chr10	75554072	75554072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ctggccagtttcatctttgaCgttctctgtgctccaggtat	9	11	3	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:75554072C>T	ENST00000605216.1	+	13	3010	c.2793C>T	c.(2791-2793)gaC>gaT	p.D931D	ZSWIM8_ENST00000398706.2_Silent_p.D931D|ZSWIM8_ENST00000603114.1_Silent_p.D898D|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000604729.1_Silent_p.D931D|ZSWIM8_ENST00000604524.1_Silent_p.D931D|ZSWIM8-AS1_ENST00000456638.2_RNA	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	931							zinc ion binding (GO:0008270)										TCATCTTTGACGTTCTCTGTG	0.537																																						ENST00000604729.1																			0											c.(2791-2793)gaC>gaT		zinc finger, SWIM-type containing 8							179	186	184					10																	75554072		2049	4197	6246	SO:0001819	synonymous_variant	23053							g.chr10:75554072C>T	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.2793C>T	10.37:g.75554072C>T			Somatic				ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000603114.1_Silent_p.D898D|ZSWIM8_ENST00000605216.1_Silent_p.D931D|ZSWIM8_ENST00000604524.1_Silent_p.D931D|ZSWIM8_ENST00000398706.2_Silent_p.D931D	p.D931D			WXS	Illumina GAIIx	Phase_I					13	3090	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Silent	SNP	ENST00000605216.1	37	c.2793C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.502|5.502	0.277650|0.277650	0.10403|0.10403	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000433366|ENST00000431225;ENST00000412198;ENST00000425051	.|.	.|.	.|.	5.37|5.37	0.0553|0.0553	0.14314|0.14314	.|.	.|.	.|.	.|.	.|.	T|T	0.57154|0.57154	0.2034|0.2034	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50303|0.50303	-0.8844|-0.8844	4|4	.|.	.|.	.|.	-7.2736|-7.2736	9.5923|9.5923	0.39554|0.39554	0.0:0.2679:0.0:0.7321|0.0:0.2679:0.0:0.7321	.|.	.|.	.|.	.|.	C|M	647|428;201;110	.|.	.|.	R|T	+|+	1|2	0|0	KIAA0913|KIAA0913	75224078|75224078	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.993000|0.993000	0.82548|0.82548	0.753000|0.753000	0.26376|0.26376	-0.118000|-0.118000	0.11851|0.11851	-0.145000|-0.145000	0.13849|0.13849	CGT|ACG		0.537	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		110	43	0	0	0	1	0	110	43					T	75554072	C	T	75554072	2	4	7	1	0	0	0	0	0	0	0	1	8209	535	19	1		1	KIAA0913	10	75554072	Silent	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	5635827	75554072	59980675	45	458										
C10orf2	56652	broad.mit.edu	37	chr10	102748377	102748377	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ggggcgaggggatggggccaGggaggggtttctgcttagca	22	6	1	0			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:102748377G>T	ENST00000311916.2	+	1	595	c.410G>T	c.(409-411)aGg>aTg	p.R137M	MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000299179.5_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000318364.8_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370236.1_5'Flank|C10orf2_ENST00000370228.1_Missense_Mutation_p.R137M	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	137					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GATGGGGCCAGGGAGGGGTTT	0.592																																						ENST00000370228.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(409-411)aGg>aTg		chromosome 10 open reading frame 2							98	116	110					10																	102748377		2203	4300	6503	SO:0001583	missense	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102748377G>T	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"twinkle", "T7 helicase-related protein with intramitochondrial nucleoid localization"	606075	"infantile onset spinocerebellar ataxia (autosomal recessive)"	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.410G>T	10.37:g.102748377G>T	ENSP00000309595:p.Arg137Met		Somatic				C10orf2_ENST00000311916.2_Missense_Mutation_p.R137M|C10orf2_ENST00000473656.1_Intron	p.R137M	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	WXS	Illumina GAIIx	Phase_I	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	1	595	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	137					B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	c.410G>T	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	G	0.983	-0.696460	0.03279	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.94966	-3.28;-3.57	5.7	0.0375	0.14196	.	0.593275	0.19384	N	0.115598	D	0.87450	0.6180	L	0.34521	1.04	0.09310	N	1	P;P	0.39696	0.683;0.556	B;B	0.36418	0.224;0.112	T	0.78573	-0.2152	10	0.30078	T	0.28	-14.7249	7.3625	0.26754	0.3949:0.1124:0.4927:0.0	.	137;137	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	M	137	ENSP00000309595:R137M;ENSP00000359248:R137M	ENSP00000309595:R137M	R	+	2	0	C10orf2	102738367	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.099000	0.11007	-0.186000	0.10533	-1.644000	0.00765	AGG		0.592	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		15	255	1	0	0.000422831	1	0.000449496	15	255					T	102748377	G	T	102748377	3	4	7	1	0	0	0	0	1	0	0	0	1599	1000	35	5	412	5	C10orf2	10	102748377	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	27194305	102748377	32786370	46	459										
SORCS3	22986	broad.mit.edu	37	chr10	107007067	107007067	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	gagaaaagatattggcaatgTcatcaagcgagctctggtta	11	6	3	2			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:107007067T>A	ENST00000369701.3	+	22	3310	c.3083T>A	c.(3082-3084)gTc>gAc	p.V1028D	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1028					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)		ATTGGCAATGTCATCAAGCGA	0.393																																					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.(3082-3084)gTc>gAc		sortilin-related VPS10 domain containing receptor 3							131	127	128					10																	107007067		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107007067T>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.3083T>A	10.37:g.107007067T>A	ENSP00000358715:p.Val1028Asp		Somatic				SORCS3_ENST00000369699.4_3'UTR	p.V1028D	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)	22	3310	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1028					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.3083T>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.795883	0.90453	.	.	ENSG00000156395	ENST00000369701	T	0.21543	2.0	5.5	5.5	0.81552	.	0.059907	0.64402	D	0.000003	T	0.49012	0.1532	M	0.81341	2.54	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.51371	-0.8714	9	.	.	.	.	15.8827	0.79216	0.0:0.0:0.0:1.0	.	1028	Q9UPU3	SORC3_HUMAN	D	1028	ENSP00000358715:V1028D	.	V	+	2	0	SORCS3	106997057	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.456000	0.80751	2.211000	0.71520	0.528000	0.53228	GTC		0.393	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		9	34	0	0	0	1	0	9	34					A	107007067	T	A	107007067	3	1	7	1	0	0	0	0	1	0	0	0	14947	1667	58	4	3169	4	SORCS3	10	107007067	Missense_Mutation	SNP	T	TCGA-N5-A4RN-01A-12D-A28R-08	4258690	107007067	28527680	47	460										
SEC23IP	11196	broad.mit.edu	37	chr10	121668600	121668601	+	Frame_Shift_Del	DEL	AG	AG	-													0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	aatcagtggcaccgaagattAgagtttccaagtggagagac							TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:121668600_121668601delAG	ENST00000369075.3	+	5	1221_1222	c.1149_1150delAG	c.(1147-1152)ttagagfs	p.E384fs	SEC23IP_ENST00000543134.1_Frame_Shift_Del_p.E173fs	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	384					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACCGAAGATTAGAGTTTCCAAG	0.327																																						ENST00000369075.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(1147-1152)ttagfs		SEC23 interacting protein																																				SO:0001589	frameshift_variant	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121668600_121668601delAG	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1149_1150delAG	10.37:g.121668602_121668603delAG	ENSP00000358071:p.Glu384fs		Somatic				SEC23IP_ENST00000543134.1_Frame_Shift_Del_p.LE172fs	p.LE383fs	NM_007190.3	NP_009121.1	WXS	Illumina GAIIx	Phase_I	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	5	1221_1222	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	383					D3DRD2|Q8IXH5|Q9BUK5	Frame_Shift_Del	DEL	ENST00000369075.3	37	c.1149_1150delAG	CCDS7618.1																																																																																				0.327	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			11	49						11	49	---	---	---	---	-	121668601	AG	-	121668600	7	5	7	1	0	1	0	1	0	0	0	0	14008	417	15	0	1167	0	SEC23IP	10	121668600	Frame_Shift_Del	DEL	AG	TCGA-N5-A4RN-01A-12D-A28R-08	14661533	121668600	13866147	48	461										
OR51Q1	390061	broad.mit.edu	37	chr11	5443752	5443752	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ctcagtttttcttccttcatGgattctcctttatggagtct	6	10	5	0			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:5443752G>T	ENST00000300778.4	+	1	412	c.322G>T	c.(322-324)Gga>Tga	p.G108*	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCCTTCATGGATTCTCCTT	0.502																																						ENST00000300778.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37						c.(322-324)Gga>Tga		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)							163	143	150					11																	5443752		2201	4297	6498	SO:0001587	stop_gained	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5443752G>T	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"GPCR / Class A : Olfactory receptors"	14851	protein-coding gene	gene with protein product			"olfactory receptor, family 51, subfamily Q, member 1"				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.322G>T	11.37:g.5443752G>T	ENSP00000300778:p.Gly108*		Somatic				HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	p.G108*	NM_001004757.2	NP_001004757.1	WXS	Illumina GAIIx	Phase_I	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	412	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	108					B2RNN1	Nonsense_Mutation	SNP	ENST00000300778.4	37	c.322G>T	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072727	0.55646	.	.	ENSG00000167360	ENST00000300778	.	.	.	5.0	-4.94	0.03057	.	1.079860	0.07156	N	0.849981	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	4.5519	0.12116	0.5822:0.1034:0.2097:0.1047	.	.	.	.	X	108	.	ENSP00000300778:G108X	G	+	1	0	OR51Q1	5400328	0.000000	0.05858	0.000000	0.03702	0.661000	0.39034	-3.110000	0.00600	-0.712000	0.04988	0.380000	0.24917	GGA		0.502	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		57	38	1	0	2.14674e-31	1	2.50807e-31	57	38					T	5443752	G	T	5443752	4	4	7	1	0	0	0	0	0	1	0	0	11113	1349	47	5	324	5	OR51Q1	11	5443752	Nonsense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08		5443752	129562764	49	462										
NR1H3	10062	broad.mit.edu	37	chr11	47282969	47282969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	tgcccagcaacagtgtaaccGgcgctccttttctgaccggc	10	15	1	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:47282969G>A	ENST00000467728.1	+	4	1915	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	NR1H3_ENST00000527949.1_Missense_Mutation_p.R135Q|NR1H3_ENST00000481889.2_Missense_Mutation_p.R181Q|NR1H3_ENST00000407404.1_Missense_Mutation_p.R226Q|NR1H3_ENST00000405576.1_Missense_Mutation_p.R181Q|NR1H3_ENST00000405853.3_Missense_Mutation_p.R226Q|NR1H3_ENST00000395397.3_Missense_Mutation_p.R181Q|NR1H3_ENST00000441012.2_Missense_Mutation_p.R226Q|NR1H3_ENST00000529540.1_3'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	226	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R226Q(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CAGTGTAACCGGCGCTCCTTT	0.622																																						ENST00000467728.1																			1	Substitution - Missense(1)	p.R226Q(1)	ovary(1)	endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(676-678)cGg>cAg		nuclear receptor subfamily 1, group H, member 3							56	54	54					11																	47282969		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47282969G>A	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"Nuclear hormone receptors"	7966	protein-coding gene	gene with protein product	"liver X receptor-alpha"	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.677G>A	11.37:g.47282969G>A	ENSP00000420656:p.Arg226Gln		Somatic				NR1H3_ENST00000481889.2_Missense_Mutation_p.R181Q|NR1H3_ENST00000405853.3_Missense_Mutation_p.R226Q|NR1H3_ENST00000527949.1_Missense_Mutation_p.R135Q|NR1H3_ENST00000405576.1_Missense_Mutation_p.R181Q|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.R226Q|NR1H3_ENST00000395397.3_Missense_Mutation_p.R181Q|NR1H3_ENST00000407404.1_Missense_Mutation_p.R226Q	p.R226Q			WXS	Illumina GAIIx	Phase_I	Q13133	NR1H3_HUMAN			4	1915	+			226			Ligand-binding (Potential).		A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.677G>A	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	G	4.656	0.122010	0.08931	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000531660;ENST00000407404;ENST00000441012;ENST00000467728;ENST00000405853;ENST00000527949	D;D;D;T;D;D;D;D;D	0.95001	-3.58;-3.07;-3.0;0.92;-3.08;-3.58;-3.58;-3.08;-3.28	5.35	0.195	0.15151	Nuclear hormone receptor, ligand-binding (2);	0.490245	0.21912	N	0.067300	T	0.78394	0.4276	N	0.01705	-0.755	0.23459	N	0.997636	B;B;B;B;B	0.19583	0.0;0.0;0.0;0.037;0.001	B;B;B;B;B	0.08055	0.0;0.0;0.0;0.003;0.002	T	0.69453	-0.5141	10	0.09590	T	0.72	.	5.4135	0.16360	0.4661:0.0:0.4031:0.1308	.	232;181;226;181;226	B4DXU5;B5MBY7;Q13133;E9PLL4;Q13133-2	.;.;NR1H3_HUMAN;.;.	Q	181;181;181;92;226;226;226;226;135	ENSP00000378793:R181Q;ENSP00000385073:R181Q;ENSP00000433271:R181Q;ENSP00000434650:R92Q;ENSP00000385801:R226Q;ENSP00000387946:R226Q;ENSP00000420656:R226Q;ENSP00000384745:R226Q;ENSP00000432073:R135Q	ENSP00000378793:R181Q	R	+	2	0	NR1H3	47239545	0.938000	0.31826	0.247000	0.24249	0.929000	0.56500	1.643000	0.37217	-0.041000	0.13558	-0.732000	0.03574	CGG		0.622	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			25	60	0	0	0	1	0	25	60					A	47282969	G	A	47282969	3	1	7	1	0	0	0	0	1	0	0	0	10627	1116	39	1	691	1	NR1H3	11	47282969	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	41839217	47282969	87723547	50	463										
OR9G1	390174	broad.mit.edu	37	chr11	56468604	56468604	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	tcctcccacctgacctctgtCactttatactatggctccat	4	16	2	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:56468604C>A	ENST00000312153.1	+	1	741	c.741C>A	c.(739-741)gtC>gtA	p.V247V		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGACCTCTGTCACTTTATACT	0.453																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(739-741)gtC>gtA		olfactory receptor, family 9, subfamily G, member 1							237	244	242					11																	56468604		2201	4296	6497	SO:0001819	synonymous_variant	390174							g.chr11:56468604C>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.741C>A	11.37:g.56468604C>A			Somatic					p.V247V	NM_001005213.1	NP_001005213.1	WXS	Illumina GAIIx	Phase_I					1	741	+								Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.741C>A	CCDS31536.1																																																																																				0.453	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		36	211	1	0	2.20474e-14	1	2.45433e-14	36	211					A	56468604	C	A	56468604	2	1	7	1	0	0	0	0	0	0	0	1	11259	813	29	2		2	OR9G1	11	56468604	Silent	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	9185635	56468604	78537912	51	464										
TMPRSS4	56649	broad.mit.edu	37	chr11	117969704	117969704	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	tcccattttcttgcagatgtCaaacccctgcgcaaaccccg	6	16	2	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:117969704C>G	ENST00000437212.3	+	3	262	c.48C>G	c.(46-48)gtC>gtG	p.V16V	TMPRSS4_ENST00000534111.1_Silent_p.V14V|TMPRSS4_ENST00000522824.1_Silent_p.V16V|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000523251.1_Intron			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	16					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TTGCAGATGTCAAACCCCTGC	0.557																																						ENST00000534111.1																			0				breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19						c.(40-42)gtC>gtG		transmembrane protease, serine 4							156	138	144					11																	117969704		2200	4296	6496	SO:0001819	synonymous_variant	56649				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117969704C>G	AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"Serine peptidases / Transmembrane"	11878	protein-coding gene	gene with protein product	"transmembrane serine protease 3", "membrane-type serine protease 2", "type II membrane serine protease"	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.48C>G	11.37:g.117969704C>G			Somatic				TMPRSS4_ENST00000522824.1_Silent_p.V16V|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000437212.3_Silent_p.V16V|TMPRSS4_ENST00000523251.1_Intron	p.V14V	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	WXS	Illumina GAIIx	Phase_I	Q9NRS4	TMPS4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)	3	307	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)	16					A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Silent	SNP	ENST00000437212.3	37	c.42C>G	CCDS31684.1																																																																																				0.557	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377328.2	NM_019894		17	48	0	0	0	1	0	17	48					G	117969704	C	G	117969704	2	3	7	1	0	0	0	0	0	0	0	1	16264	813	29	2		2	TMPRSS4	11	117969704	Silent	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	61501100	117969704	17036812	52	465										
CD3E	916	broad.mit.edu	37	chr11	118178014	118178014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	attttctagttggcgtttggGggcaagatggtgagatatgc	15	4	1	2			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:118178014G>A	ENST00000361763.4	+	3	352	c.61G>A	c.(61-63)Ggg>Agg	p.G21R	CD3E_ENST00000528600.1_Missense_Mutation_p.G21R	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	21					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	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;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	TGGCGTTTGGGGGCAAGATGG	0.378																																						ENST00000361763.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8						c.(61-63)Ggg>Agg		CD3e molecule, epsilon (CD3-TCR complex)	Muromonab(DB00075)						125	110	115					11																	118178014		2200	4296	6496	SO:0001583	missense	916				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity	g.chr11:118178014G>A	X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"CD molecules"	1674	protein-coding gene	gene with protein product		186830	"CD3e antigen, epsilon polypeptide (TiT3 complex)"				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.61G>A	11.37:g.118178014G>A	ENSP00000354566:p.Gly21Arg		Somatic				CD3E_ENST00000528600.1_Missense_Mutation_p.G21R	p.G21R	NM_000733.3	NP_000724.1	WXS	Illumina GAIIx	Phase_I	P07766	CD3E_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	3	352	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	21					A8K997	Missense_Mutation	SNP	ENST00000361763.4	37	c.61G>A	CCDS31685.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867104	0.72065	.	.	ENSG00000198851	ENST00000361763;ENST00000528600	T	0.52057	0.68	4.95	4.95	0.65309	.	0.624957	0.15730	N	0.247449	T	0.69015	0.3064	M	0.78916	2.43	0.25340	N	0.988959	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.968	T	0.62124	-0.6920	10	0.66056	D	0.02	.	14.0553	0.64764	0.0:0.0:1.0:0.0	.	21;21	B4DVW0;P07766	.;CD3E_HUMAN	R	21	ENSP00000354566:G21R	ENSP00000354566:G21R	G	+	1	0	CD3E	117683224	1.000000	0.71417	0.972000	0.41901	0.083000	0.17756	4.044000	0.57361	2.437000	0.82529	0.655000	0.94253	GGG		0.378	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1	NM_000733		13	9	0	0	0	1	0	13	9					A	118178014	G	A	118178014	3	1	7	1	0	0	0	0	1	0	0	0	3013	1232	43	3	67	3	CD3E	11	118178014	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	208310	118178014	16828502	53	466										
C12orf41	54934	broad.mit.edu	37	chr12	49054403	49054403	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	attcgtatcctgacaaatatCtgtagaaaaatggtcaaggg	9	6	2	2			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:49054403C>A	ENST00000420613.2	-	8	1021		c.e8-1		KANSL2_ENST00000548701.1_Splice_Site|KANSL2_ENST00000553086.1_Splice_Site|KANSL2_ENST00000550347.1_Splice_Site	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2						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)|nucleoplasm (GO:0005654)											TGACAAATATCTGTAGAAAAA	0.403																																						ENST00000550347.1																			0											c.e7-1		KAT8 regulatory NSL complex subunit 2							42	44	43					12																	49054403		1864	4098	5962	SO:0001630	splice_region_variant	54934							g.chr12:49054403C>A	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"chromosome 12 open reading frame 41"	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.974-1G>T	12.37:g.49054403C>A			Somatic				KANSL2_ENST00000548701.1_Splice_Site|KANSL2_ENST00000420613.2_Splice_Site|KANSL2_ENST00000553086.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9H9L4	CL041_HUMAN			7	1566	-								Q8N3B5|Q96CV0|Q9NX51	Splice_Site	SNP	ENST00000420613.2	37		CCDS44869.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158301	0.78114	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000547087;ENST00000553086	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9434	0.86224	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C12orf41	47340670	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.194000	0.77789	2.603000	0.88011	0.557000	0.71058	.		0.403	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822	Intron	3	11	1	0	0.150653	1	0.151941	3	11					A	49054403	C	A	49054403	5	1	7	1	0	0	0	0	0	0	1	0	1689	927	32	2	517	2	C12orf41	12	49054403	Splice_Site	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08		49054403	84797492	54	467										
DCTN2	10540	broad.mit.edu	37	chr12	57924490	57924490	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	gctcactttcccagcttcttCatccgttcatcaatgctggc	6	15	5	0			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:57924490C>T	ENST00000548249.1	-	14	1455	c.1188G>A	c.(1186-1188)atG>atA	p.M396I	DCTN2_ENST00000434715.3_Missense_Mutation_p.M401I|DCTN2_ENST00000537439.1_Missense_Mutation_p.M373I|DCTN2_ENST00000543672.1_Missense_Mutation_p.M401I	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	396					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						CCAGCTTCTTCATCCGTTCAT	0.478																																						ENST00000548249.1																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						c.(1186-1188)atG>atA		dynactin 2 (p50)							170	162	164					12																	57924490		1910	4149	6059	SO:0001583	missense	10540				cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding	g.chr12:57924490C>T	U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.1188G>A	12.37:g.57924490C>T	ENSP00000447824:p.Met396Ile		Somatic				DCTN2_ENST00000543672.1_Missense_Mutation_p.M401I|DCTN2_ENST00000537439.1_Missense_Mutation_p.M373I|DCTN2_ENST00000434715.3_Missense_Mutation_p.M401I	p.M396I	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	WXS	Illumina GAIIx	Phase_I	Q13561	DCTN2_HUMAN			14	1455	-			396					B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	ENST00000548249.1	37	c.1188G>A	CCDS58245.1	.	.	.	.	.	.	.	.	.	.	C	4.394	0.072715	0.08436	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000543105;ENST00000546758	.	.	.	4.98	4.98	0.66077	.	0.038742	0.85682	D	0.000000	T	0.25791	0.0628	N	0.04787	-0.16	0.58432	D	0.999996	B;B;B	0.11235	0.002;0.004;0.003	B;B;B	0.08055	0.002;0.002;0.003	T	0.17776	-1.0358	9	0.02654	T	1	-19.561	11.0474	0.47867	0.0:0.9135:0.0:0.0865	.	372;401;396	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	I	396;401;401;373;372;309;263	.	ENSP00000346785:M372I	M	-	3	0	DCTN2	56210757	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.636000	0.54317	2.750000	0.94351	0.655000	0.94253	ATG		0.478	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		58	39	0	0	0	1	0	58	39					T	57924490	C	T	57924490	3	4	7	1	0	0	0	0	1	0	0	0	4309	826	29	3	21	3	DCTN2	12	57924490	Missense_Mutation	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	8870087	57924490	75927405	55	468										
TSFM	25895	broad.mit.edu	37	chr12	58177020	58177020	+	IGR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	gaaaacaggctactcctttgTaaattgcaagaaagctctgg	9	8	1	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:58177020T>C	ENST00000300209.8	+	0	2563				TSFM_ENST00000540550.1_Missense_Mutation_p.V62A|RP11-571M6.15_ENST00000471530.1_Nonstop_Mutation_p.*77Q|TSFM_ENST00000323833.8_Missense_Mutation_p.V62A|TSFM_ENST00000454289.3_Missense_Mutation_p.V62A|TSFM_ENST00000550559.1_Missense_Mutation_p.V62A|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000548851.1_Missense_Mutation_p.V62A|TSFM_ENST00000543727.1_Missense_Mutation_p.V62A|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000497617.1_3'UTR	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						TACTCCTTTGTAAATTGCAAG	0.567											OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000471530.1																			0											c.(229-231)Taa>Caa									103	115	111					12																	58177020		2203	4300	6503	SO:0001628	intergenic_variant	0							g.chr12:58177020T>C	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"family with sequence similarity 119, member B"	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58177020T>C			Somatic	OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	TSFM_ENST00000548851.1_Missense_Mutation_p.V62A|TSFM_ENST00000543727.1_Missense_Mutation_p.V62A|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000454289.3_Missense_Mutation_p.V62A|TSFM_ENST00000550559.1_Missense_Mutation_p.V62A|TSFM_ENST00000540550.1_Missense_Mutation_p.V62A|TSFM_ENST00000323833.8_Missense_Mutation_p.V62A|TSFM_ENST00000497617.1_3'UTR|RP11-571M6.15_ENST00000553083.1_3'UTR	p.*77Q			WXS	Illumina GAIIx	Phase_I					2	229	+								Q9H749|Q9Y3W2	Nonstop_Mutation	SNP	ENST00000300209.8	37	c.229T>C	CCDS8957.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.417691	0.83449	.	.	ENSG00000123297	ENST00000454289;ENST00000543727;ENST00000540550;ENST00000323833;ENST00000550559;ENST00000548851;ENST00000434359;ENST00000457189	T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.29	4.14	0.48551	Translation elongation factor Ts, conserved site (1);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.313338	0.32901	N	0.005502	T	0.15782	0.0380	L	0.37466	1.105	0.80722	D	1	B;B;B	0.20459	0.045;0.012;0.018	B;B;B	0.25405	0.06;0.026;0.036	T	0.06232	-1.0838	10	0.16896	T	0.51	.	10.0873	0.42425	0.0:0.0907:0.0:0.9093	.	62;62;62	B4E391;P43897;P43897-2	.;EFTS_HUMAN;.	A	62;62;62;62;62;62;12;12	ENSP00000388330:V62A;ENSP00000439342:V62A;ENSP00000440987:V62A;ENSP00000313877:V62A;ENSP00000448575:V62A;ENSP00000450041:V62A;ENSP00000390679:V12A;ENSP00000389162:V12A	ENSP00000313877:V62A	V	+	2	0	TSFM	56463287	0.998000	0.40836	0.997000	0.53966	0.904000	0.53231	3.205000	0.51090	2.221000	0.72209	0.379000	0.24179	GTA		0.567	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		59	101	0	0	0	1	0	59	101					C	58177020	T	C	58177020	1	2	7	0	1	0	0	0	0	0	0	0	16630	1638	57	4		4	TSFM	12	58177020	IGR	SNP	T	TCGA-N5-A4RN-01A-12D-A28R-08	252530	58177020	75674875	56	469										
HCFC2	29915	broad.mit.edu	37	chr12	104492131	104492131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ctgaaattagaaagagactcCttcaaatccagtggccacag	8	10	1	3			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:104492131C>T	ENST00000229330.4	+	13	1855	c.1751C>T	c.(1750-1752)cCt>cTt	p.P584L	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	584	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						AAAGAGACTCCTTCAAATCCA	0.343																																					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.(1750-1752)cCt>cTt		host cell factor C2							36	40	39					12																	104492131		2203	4300	6503	SO:0001583	missense	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104492131C>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.1751C>T	12.37:g.104492131C>T	ENSP00000229330:p.Pro584Leu		Somatic				HCFC2_ENST00000550335.1_3'UTR	p.P584L	NM_013320.2	NP_037452.1	WXS	Illumina GAIIx	Phase_I	Q9Y5Z7	HCFC2_HUMAN			13	1855	+			584			Fibronectin type-III 2.		B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	c.1751C>T	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298899	0.40694	.	.	ENSG00000111727	ENST00000229330	T	0.01854	4.6	5.68	5.68	0.88126	Fibronectin, type III (3);	0.396789	0.25981	N	0.027076	T	0.03263	0.0095	L	0.43152	1.355	0.34383	D	0.693334	B	0.17667	0.023	B	0.16289	0.015	T	0.31503	-0.9941	10	0.40728	T	0.16	-6.1595	14.6112	0.68517	0.1457:0.8543:0.0:0.0	.	584	Q9Y5Z7	HCFC2_HUMAN	L	584	ENSP00000229330:P584L	ENSP00000229330:P584L	P	+	2	0	HCFC2	103016261	0.528000	0.26314	0.999000	0.59377	0.989000	0.77384	3.029000	0.49712	2.685000	0.91497	0.650000	0.86243	CCT		0.343	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		8	27	0	0	0	1	0	8	27					T	104492131	C	T	104492131	3	4	7	1	0	0	0	0	1	0	0	0	7002	681	24	3	1801	3	HCFC2	12	104492131	Missense_Mutation	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	46315111	104492131	29359764	57	470										
EP400	57634	broad.mit.edu	37	chr12	132489700	132489700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	tcagtggccccggccgaagcCtgatggggaggacacaagcg	16	12	1	1	rs377727173		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:132489700C>T	ENST00000333577.4	+	14	3123	c.3014C>T	c.(3013-3015)cCt>cTt	p.P1005L	EP400_ENST00000330386.6_Missense_Mutation_p.P969L|EP400_ENST00000332482.4_Missense_Mutation_p.P932L|EP400_ENST00000389562.2_Missense_Mutation_p.P968L|EP400_ENST00000389561.2_Missense_Mutation_p.P969L			Q96L91	EP400_HUMAN	E1A binding protein p400	1005	Interactions with RUVBL1 and RUVBL2.				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)		CGGCCGAAGCCTGATGGGGAG	0.567																																						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.(3013-3015)cCt>cTt		E1A binding protein p400		C	LEU/PRO	1,4395		0,1,2197	21	19	20		2906	5.4	0.3	12		20	0,8588		0,0,4294	no	missense	EP400	NM_015409.4	98	0,1,6491	TT,TC,CC		0.0,0.0227,0.0077	benign	969/3124	132489700	1,12983	2198	4294	6492	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132489700C>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.3014C>T	12.37:g.132489700C>T	ENSP00000333602:p.Pro1005Leu		Somatic				EP400_ENST00000389562.2_Missense_Mutation_p.P968L|EP400_ENST00000330386.6_Missense_Mutation_p.P969L|EP400_ENST00000389561.2_Missense_Mutation_p.P969L|EP400_ENST00000332482.4_Missense_Mutation_p.P932L	p.P1005L			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)	14	3123	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1005			Interactions with RUVBL1 and RUVBL2.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.3014C>T		.	.	.	.	.	.	.	.	.	.	C	7.281	0.609164	0.14066	2.27E-4	0.0	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.89939	-2.59;-2.58;-2.59;-2.58;-2.58	5.36	5.36	0.76844	.	0.304055	0.36444	N	0.002593	D	0.83691	0.5309	L	0.28740	0.885	0.43830	D	0.996404	B;B;B	0.21381	0.055;0.055;0.055	B;B;B	0.24155	0.051;0.051;0.051	T	0.78630	-0.2129	10	0.24483	T	0.36	.	17.2781	0.87122	0.0:1.0:0.0:0.0	.	969;969;968	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	L	1005;969;968;932;969;969;969	ENSP00000333602:P1005L;ENSP00000374212:P969L;ENSP00000374213:P968L;ENSP00000331737:P932L;ENSP00000330620:P969L	ENSP00000330620:P969L	P	+	2	0	EP400	131055653	0.198000	0.23374	0.268000	0.24571	0.005000	0.04900	1.256000	0.32921	2.495000	0.84180	0.655000	0.94253	CCT		0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	7	0	0	0	1	0	6	7					T	132489700	C	T	132489700	3	4	7	1	0	0	0	0	1	0	0	0	5151	681	24	3	2949	3	EP400	12	132489700	Missense_Mutation	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	27997569	132489700	1362195	58	471										
RB1	5925	broad.mit.edu	37	chr13	48881414	48881414	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	tatgattattttcatttggtAggcttgagtttgaagaaaca	9	3	1	4			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr13:48881414A>G	ENST00000267163.4	+	2	275		c.e2-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTCATTTGGTAGGCTTGAGTT	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"		16	Whole gene deletion(15)|Unknown(1)	p.0?(15)|p.?(1)	bone(10)|breast(2)|eye(1)|soft_tissue(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	GRCh37	CS040288	RB1	S		c.e2-1		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						97	96	97					13																	48881414		2203	4299	6502	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48881414A>G	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.138-1A>G	13.37:g.48881414A>G		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	Somatic						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	275	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37		CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.361707	0.61403	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0932	0.48128	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47779415	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	4.336000	0.59304	1.923000	0.55706	0.528000	0.53228	.		0.313	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	21	2	0	0	0	1	0	21	2					G	48881414	A	G	48881414	5	3	7	1	0	0	0	0	0	0	1	0	13113	434	15	4	142	4	RB1	13	48881414	Splice_Site	SNP	A	TCGA-N5-A4RN-01A-12D-A28R-08		48881414	66288464	59	472										
DCT	1638	broad.mit.edu	37	chr13	95114274	95114274	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	gagcacccacctgaaactgaAggtagagttctggaagaagg	13	8	1	4			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr13:95114274A>T	ENST00000377028.5	-	5	1446	c.1033T>A	c.(1033-1035)Ttc>Atc	p.F345I	DCT_ENST00000446125.1_Missense_Mutation_p.F345I|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	345					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CTGAAACTGAAGGTAGAGTTC	0.458																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(1033-1035)Ttc>Atc		dopachrome tautomerase							98	94	95					13																	95114274		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95114274A>T	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1033T>A	13.37:g.95114274A>T	ENSP00000366227:p.Phe345Ile		Somatic				DCT_ENST00000446125.1_Missense_Mutation_p.F345I	p.F345I	NM_001922.3	NP_001913.2	WXS	Illumina GAIIx	Phase_I	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	5	1446	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	345					Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.1033T>A	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	a	15.18	2.758128	0.49468	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98807	-5.15;-5.15	5.52	4.35	0.52113	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.046250	0.85682	D	0.000000	D	0.98473	0.9491	M	0.87180	2.865	0.54753	D	0.999988	B;B	0.34241	0.444;0.394	P;B	0.45577	0.486;0.205	D	0.97754	1.0216	10	0.21540	T	0.41	-14.4571	11.3477	0.49569	0.9289:0.0:0.0711:0.0	.	345;345	Q09GT4;P40126	.;TYRP2_HUMAN	I	345	ENSP00000366227:F345I;ENSP00000392762:F345I	ENSP00000366227:F345I	F	-	1	0	DCT	93912275	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.952000	0.75989	0.952000	0.37798	0.454000	0.30748	TTC		0.458	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			11	25	0	0	0	1	0	11	25					T	95114274	A	T	95114274	3	4	7	1	0	0	0	0	1	0	0	0	4306	72	3	4	649	4	DCT	13	95114274	Missense_Mutation	SNP	A	TCGA-N5-A4RN-01A-12D-A28R-08	46232860	95114274	20055604	60	473										
CHMP4A	29082	broad.mit.edu	37	chr14	24679649	24679649	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ttaacaactcctgggccaatTcctcctgctccagctcctct	5	17	1	0			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr14:24679649T>A	ENST00000609024.1	-	5	563	c.515A>T	c.(514-516)gAa>gTa	p.E172V	CHMP4A_ENST00000530996.1_Missense_Mutation_p.E67V|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000542700.2_5'UTR|CHMP4A_ENST00000347519.6_Missense_Mutation_p.E215V|TM9SF1_ENST00000530611.1_Missense_Mutation_p.E172V|TM9SF1_ENST00000556387.1_Missense_Mutation_p.E172V			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	172	Intramolecular interaction with N- terminus. {ECO:0000250}.				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)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		CTGGGCCAATTCCTCCTGCTC	0.483																																						ENST00000556387.1																			0				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24						c.(514-516)gAa>gTa		transmembrane 9 superfamily member 1							191	204	199					14																	24679649		2203	4300	6503	SO:0001583	missense	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24679649T>A	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.515A>T	14.37:g.24679649T>A	ENSP00000476412:p.Glu172Val		Somatic				AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000542700.2_5'UTR|CHMP4A_ENST00000347519.6_Missense_Mutation_p.E215V|TM9SF1_ENST00000530611.1_Missense_Mutation_p.E172V	p.E172V			WXS	Illumina GAIIx	Phase_I	O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	5	548	-			0					Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Missense_Mutation	SNP	ENST00000609024.1	37	c.515A>T		.	.	.	.	.	.	.	.	.	.	T	13.78	2.340265	0.41398	.	.	ENSG00000100926;ENSG00000254692;ENSG00000254505;ENSG00000254505	ENST00000556387;ENST00000530611;ENST00000347519;ENST00000533011	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.46	5.46	0.80206	.	0.466636	0.18092	N	0.151978	T	0.73055	0.3538	M	0.67625	2.065	0.42957	D	0.994393	B;B	0.30605	0.287;0.032	B;B	0.37731	0.257;0.064	T	0.73773	-0.3877	10	0.54805	T	0.06	-3.4662	13.4758	0.61308	0.0:0.0:0.0:1.0	.	172;215	Q9BY43;Q14D22	CHM4A_HUMAN;.	V	172;172;215;182	ENSP00000451949:E172V;ENSP00000433967:E172V;ENSP00000324205:E215V;ENSP00000432575:E182V	ENSP00000324205:E215V	E	-	2	0	TM9SF1;AL096870.1;RP11-468E2.1	23749489	1.000000	0.71417	0.998000	0.56505	0.097000	0.18754	4.497000	0.60367	2.061000	0.61500	0.459000	0.35465	GAA		0.483	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169		106	141	0	0	0	1	0	106	141					A	24679649	T	A	24679649	3	1	7	1	0	0	0	0	1	0	0	0	3358	1783	62	4	161	4	CHMP4A	14	24679649	Missense_Mutation	SNP	T	TCGA-N5-A4RN-01A-12D-A28R-08		24679649	82669891	61	474										
KLHDC2	23588	broad.mit.edu	37	chr14	50249133	50249133	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	gatgaaggagaagtaattgtTtttggtggatgtgccaacaa	13	3	0	2			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr14:50249133T>G	ENST00000298307.5	+	11	1863	c.1002T>G	c.(1000-1002)gtT>gtG	p.V334V	KLHDC2_ENST00000554589.1_Silent_p.V334V|NEMF_ENST00000556925.1_5'Flank|KLHDC2_ENST00000557247.1_3'UTR	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	334						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					AAGTAATTGTTTTTGGTGGAT	0.403																																						ENST00000298307.5																			0				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1000-1002)gtT>gtG		kelch domain containing 2							186	184	185					14																	50249133		2203	4300	6503	SO:0001819	synonymous_variant	23588					nucleus	protein binding	g.chr14:50249133T>G	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.1002T>G	14.37:g.50249133T>G			Somatic				KLHDC2_ENST00000554589.1_Silent_p.V334V|KLHDC2_ENST00000557247.1_3'UTR	p.V334V	NM_014315.2	NP_055130.1	WXS	Illumina GAIIx	Phase_I	Q9Y2U9	KLDC2_HUMAN			11	1863	+	all_epithelial(31;0.000959)|Breast(41;0.0117)		334					B3KPF9|Q6IAF0|Q86TY9	Silent	SNP	ENST00000298307.5	37	c.1002T>G	CCDS9693.1																																																																																				0.403	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1			16	42	0	0	0	1	0	16	42					G	50249133	T	G	50249133	2	3	7	1	0	0	0	0	0	0	0	1	8365	1828	64	4		4	KLHDC2	14	50249133	Silent	SNP	T	TCGA-N5-A4RN-01A-12D-A28R-08	25569484	50249133	57100407	62	475										
PPP2R5E	5529	broad.mit.edu	37	chr14	63858584	63858584	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	atttcattaaccccctaataAcctaaaatgaaaaggagaaa	4	8	1	2			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr14:63858584A>G	ENST00000337537.3	-	10	1507	c.905T>C	c.(904-906)gTt>gCt	p.V302A	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Splice_Site_p.V226A|PPP2R5E_ENST00000555899.1_Splice_Site_p.V302A	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	302					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)		CCCCCTAATAACCTAAAATGA	0.299																																						ENST00000337537.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.e10-1		protein phosphatase 2, regulatory subunit B', epsilon isoform							71	73	72					14																	63858584		2203	4300	6503	SO:0001630	splice_region_variant	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63858584A>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.904-1T>C	14.37:g.63858584A>G			Somatic				PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Splice_Site_p.V226_splice|PPP2R5E_ENST00000555899.1_Splice_Site_p.V302_splice	p.V302_splice	NM_006246.2	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	1507	-			302					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Splice_Site	SNP	ENST00000337537.3	37	c.903_splice	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.686356	0.88639	.	.	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	D	0.83445	0.5256	M	0.87269	2.87	0.80722	D	1	D;D	0.64830	0.97;0.994	P;D	0.68192	0.863;0.956	D	0.86740	0.1954	9	0.87932	D	0	-9.2625	15.6906	0.77450	1.0:0.0:0.0:0.0	.	302;302	B7ZKK9;Q16537	.;2A5E_HUMAN	A	302;302;226	.	ENSP00000337641:V302A	V	-	2	0	PPP2R5E	62928337	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.214000	0.95140	2.158000	0.67659	0.533000	0.62120	GTT		0.299	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246	Missense_Mutation	13	40	0	0	0	1	0	13	40					G	63858584	A	G	63858584	5	3	7	1	0	0	0	0	0	0	1	0	12408	57	2	4	518	4	PPP2R5E	14	63858584	Splice_Site	SNP	A	TCGA-N5-A4RN-01A-12D-A28R-08	13609451	63858584	43490956	63	476										
SERPINA6	866	broad.mit.edu	37	chr14	94770860	94770860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	cgcaagatgataggcttggaCgtcaggtttagggtgacccc	14	9	1	3	rs191026012	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr14:94770860C>T	ENST00000341584.3	-	5	1259	c.1113G>A	c.(1111-1113)acG>acA	p.T371T		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	371					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TAGGCTTGGACGTCAGGTTTA	0.522													C|||	7	0.00139776	0	0	5008	,	,		20835	0.0069		0	False		,,,				2504	0					ENST00000341584.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26						c.(1111-1113)acG>acA		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						207	162	177					14																	94770860		2203	4300	6503	SO:0001819	synonymous_variant	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94770860C>T	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"Serine (or cysteine) peptidase inhibitors"	1540	protein-coding gene	gene with protein product	"corticosteroid binding globulin", "transcortin"	122500	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.1113G>A	14.37:g.94770860C>T			Somatic					p.T371T	NM_001756.3	NP_001747.2	WXS	Illumina GAIIx	Phase_I	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	5	1259	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	371					A8K456|Q7Z2Q9	Silent	SNP	ENST00000341584.3	37	c.1113G>A	CCDS9924.1																																																																																				0.522	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		36	19	0	0	0	1	0	36	19					T	94770860	C	T	94770860	2	4	7	1	0	0	0	0	0	0	0	1	14108	523	19	1		1	SERPINA6	14	94770860	Silent	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	30912276	94770860	12578680	64	477										
RTL1	388015	broad.mit.edu	37	chr14	101349485	101349485	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ccgggtagcaggctcatgccGtgcctctctagggcaatgca	13	13	2	0			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr14:101349485G>C	ENST00000534062.1	-	1	1699	c.1641C>G	c.(1639-1641)caC>caG	p.H547Q	MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA|MIR433_ENST00000384837.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	547					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						GGCTCATGCCGTGCCTCTCTA	0.602																																						ENST00000534062.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(1639-1641)caC>caG		retrotransposon-like 1							41	41	41					14																	101349485		692	1591	2283	SO:0001583	missense	388015							g.chr14:101349485G>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.1641C>G	14.37:g.101349485G>C	ENSP00000435342:p.His547Gln		Somatic					p.H547Q	NM_001134888.2	NP_001128360.1	WXS	Illumina GAIIx	Phase_I	E9PKS8	E9PKS8_HUMAN			1	1699	-			547					E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	c.1641C>G	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	G	6.901	0.535722	0.13188	.	.	ENSG00000254656	ENST00000534062	T	0.22945	1.93	3.8	-0.885	0.10593	.	0.245044	0.21390	N	0.075323	T	0.15912	0.0383	M	0.64170	1.965	0.09310	N	1	B	0.26147	0.143	B	0.17433	0.018	T	0.22556	-1.0213	10	0.12766	T	0.61	.	1.1949	0.01873	0.2042:0.3055:0.3356:0.1547	.	547	E9PKS8	.	Q	547	ENSP00000435342:H547Q	ENSP00000435342:H547Q	H	-	3	2	RTL1	100419238	0.000000	0.05858	0.008000	0.14137	0.812000	0.45895	-1.989000	0.01480	-0.146000	0.11274	0.655000	0.94253	CAC		0.602	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		8	1	0	0	0	1	0	8	1					C	101349485	G	C	101349485	3	2	7	1	0	0	0	0	1	0	0	0	13739	1136	40	5	2439	5	RTL1	14	101349485	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	6578625	101349485	6000055	65	478										
CELF6	60677	broad.mit.edu	37	chr15	72608246	72608246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ttgagagcagagtcccgggcGcagtaggtgaggaaggcaca	17	8	0	3			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr15:72608246G>A	ENST00000569547.1	-	2	356	c.285C>T	c.(283-285)tgC>tgT	p.C95C	CELF6_ENST00000567083.1_Silent_p.C95C|CELF6_ENST00000539635.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000287202.5_Silent_p.C95C|RP11-106M3.3_ENST00000570175.1_RNA			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	95	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						AGTCCCGGGCGCAGTAGGTGA	0.587																																						ENST00000287202.5																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						c.(283-285)tgC>tgT		CUGBP, Elav-like family member 6							31	32	32					15																	72608246		2198	4296	6494	SO:0001819	synonymous_variant	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72608246G>A	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"RNA binding motif (RRM) containing"	14059	protein-coding gene	gene with protein product		612681	"Bruno (Drosophila) -like 6, RNA binding protein", "bruno-like 6, RNA binding protein (Drosophila)"	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.285C>T	15.37:g.72608246G>A			Somatic				RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000539635.1_5'UTR|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Silent_p.C95C	p.C95C	NM_052840.4	NP_443072.3	WXS	Illumina GAIIx	Phase_I	Q96J87	CELF6_HUMAN			2	539	-			95			RRM 1.		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Silent	SNP	ENST00000569547.1	37	c.285C>T	CCDS10242.1																																																																																				0.587	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		3	18	0	0	0	1	0	3	18					A	72608246	G	A	72608246	2	1	7	1	0	0	0	0	0	0	0	1	3222	1079	38	1		1	CELF6	15	72608246	Silent	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08		72608246	29923146	66	479										
CREBBP	1387	broad.mit.edu	37	chr16	3778746	3778746	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	acttggctgtgcgctgtttgAtgaaagctgccattagctgc	12	9	0	2			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:3778746A>G	ENST00000262367.5	-	31	7111	c.6302T>C	c.(6301-6303)aTc>aCc	p.I2101T	CREBBP_ENST00000382070.3_Missense_Mutation_p.I2063T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2101					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)		GCGCTGTTTGATGAAAGCTGC	0.612			"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.(6301-6303)aTc>aCc		CREB binding protein							107	119	115					16																	3778746		2197	4299	6496	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3778746A>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.6302T>C	16.37:g.3778746A>G	ENSP00000262367:p.Ile2101Thr		Somatic				CREBBP_ENST00000382070.3_Missense_Mutation_p.I2063T	p.I2101T	NM_004380.2	NP_004371.2	WXS	Illumina GAIIx	Phase_I	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	7111	-		Ovarian(90;0.0266)	2101					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.6302T>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	a	10.45	1.354675	0.24512	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.87966	-2.32;-2.21	5.11	5.11	0.69529	Nuclear receptor coactivator, CREB-bp-like, interlocking (2);Nuclear receptor coactivator, interlocking (1);	0.000000	0.85682	D	0.000000	D	0.92557	0.7636	M	0.69523	2.12	0.80722	D	1	D;D	0.62365	0.991;0.991	D;D	0.78314	0.991;0.991	D	0.93196	0.6587	10	0.62326	D	0.03	-21.4476	14.9202	0.70832	1.0:0.0:0.0:0.0	.	2131;2101	Q4LE28;Q92793	.;CBP_HUMAN	T	2101;2131;2063;636	ENSP00000262367:I2101T;ENSP00000371502:I2063T	ENSP00000262367:I2101T	I	-	2	0	CREBBP	3718747	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.325000	0.96381	1.934000	0.56057	0.533000	0.62120	ATC		0.612	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		195	20	0	0	0	1	0	195	20					G	3778746	A	G	3778746	3	3	7	1	0	0	0	0	1	0	0	0	3863	333	12	4	1030	4	CREBBP	16	3778746	Missense_Mutation	SNP	A	TCGA-N5-A4RN-01A-12D-A28R-08		3778746	86576007	67	480										
GTF3C1	2975	broad.mit.edu	37	chr16	27503992	27503992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	aactgtagcagccccatgtaGcacagcctctgaaggttctc	9	13	2	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:27503992G>A	ENST00000356183.4	-	18	2934	c.2919C>T	c.(2917-2919)tgC>tgT	p.C973C	GTF3C1_ENST00000561623.1_Silent_p.C973C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	973					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						GCCCCATGTAGCACAGCCTCT	0.512																																						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.(2917-2919)tgC>tgT		general transcription factor IIIC, polypeptide 1, alpha 220kDa							131	133	133					16																	27503992		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27503992G>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.2919C>T	16.37:g.27503992G>A			Somatic				GTF3C1_ENST00000561623.1_Silent_p.C973C	p.C973C	NM_001520.3	NP_001511.2	WXS	Illumina GAIIx	Phase_I	Q12789	TF3C1_HUMAN			18	2934	-			973					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.2919C>T	CCDS32414.1																																																																																				0.512	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		83	80	0	0	0	1	0	83	80					A	27503992	G	A	27503992	2	1	7	1	0	0	0	0	0	0	0	1	6881	963	34	3		3	GTF3C1	16	27503992	Silent	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	23725246	27503992	62850761	68	481										
FAM65A	79567	broad.mit.edu	37	chr16	67579900	67579900	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	aggatgaggacgtgcagactCgagtggctggctgcctggcc	17	10	0	2			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:67579900C>T	ENST00000379312.3	+	20	3569	c.3448C>T	c.(3448-3450)Cga>Tga	p.R1150*	FAM65A_ENST00000422602.2_Nonsense_Mutation_p.R1166*|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.R1160*|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.R1146*|FAM65A_ENST00000540839.3_Nonsense_Mutation_p.R1165*	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1150						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)		CGTGCAGACTCGAGTGGCTGG	0.657																																						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.(3493-3495)Cga>Tga		family with sequence similarity 65, member A							99	97	98					16																	67579900		2198	4300	6498	SO:0001587	stop_gained	79567					cytoplasm	binding	g.chr16:67579900C>T	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.3448C>T	16.37:g.67579900C>T	ENSP00000368614:p.Arg1150*		Somatic				FAM65A_ENST00000379312.3_Nonsense_Mutation_p.R1150*|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.R1160*|FAM65A_ENST00000422602.2_Nonsense_Mutation_p.R1166*|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.R1146*	p.R1165*			WXS	Illumina GAIIx	Phase_I	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	21	3713	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	1150					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Nonsense_Mutation	SNP	ENST00000379312.3	37	c.3493C>T	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.186970|7.186970	0.98121|0.98121	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	.|.	.|.	.|.	5.58|5.58	4.6|4.6	0.57074|0.57074	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.61912	.|0.2385	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69351	.|-0.5168	.|3	0.02654|.	T|.	1|.	-8.197|-8.197	12.3173|12.3173	0.54964|0.54964	0.405:0.595:0.0:0.0|0.405:0.595:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1150;1146;1166;1160|1139	.|.	ENSP00000042381:R1146X|.	R|S	+|+	1|2	2|0	FAM65A|FAM65A	66137401|66137401	0.892000|0.892000	0.30473|0.30473	0.970000|0.970000	0.41538|0.41538	0.997000|0.997000	0.91878|0.91878	1.776000|1.776000	0.38594|0.38594	1.221000|1.221000	0.43506|0.43506	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.657	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		57	37	0	0	0	1	0	57	37					T	67579900	C	T	67579900	4	4	7	1	0	0	0	0	0	1	0	0	5607	876	31	1	3510	1	FAM65A	16	67579900	Nonsense_Mutation	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	40075908	67579900	22774853	69	482										
PHLPP2	23035	broad.mit.edu	37	chr16	71701133	71701133	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	cctcgtgagtgcattatgctGaagatccagcacctcgaggg	12	11	0	3			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:71701133G>A	ENST00000568954.1	-	12	2110	c.1732C>T	c.(1732-1734)Cag>Tag	p.Q578*	RNU6-208P_ENST00000362431.1_RNA|PHLPP2_ENST00000567016.1_Nonsense_Mutation_p.Q613*|PHLPP2_ENST00000356272.3_Nonsense_Mutation_p.Q578*|PHLPP2_ENST00000393524.2_Nonsense_Mutation_p.Q578*|PHLPP2_ENST00000360429.3_Nonsense_Mutation_p.Q578*			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	578					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GCATTATGCTGAAGATCCAGC	0.463																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(1732-1734)Cag>Tag		PH domain and leucine rich repeat protein phosphatase 2							135	117	123					16																	71701133		2198	4300	6498	SO:0001587	stop_gained	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71701133G>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.1732C>T	16.37:g.71701133G>A	ENSP00000457991:p.Gln578*		Somatic				PHLPP2_ENST00000360429.3_Nonsense_Mutation_p.Q578*|PHLPP2_ENST00000356272.3_Nonsense_Mutation_p.Q578*|PHLPP2_ENST00000568954.1_Nonsense_Mutation_p.Q578*|PHLPP2_ENST00000567016.1_Nonsense_Mutation_p.Q613*	p.Q578*			WXS	Illumina GAIIx	Phase_I	Q6ZVD8	PHLP2_HUMAN			11	2465	-			652					A1L374|Q9NV17|Q9Y2E3	Nonsense_Mutation	SNP	ENST00000568954.1	37	c.1732C>T	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256000	0.95336	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	.	.	.	5.85	5.85	0.93711	.	0.110931	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-14.1042	19.1545	0.93504	0.0:0.0:1.0:0.0	.	.	.	.	X	385;578;578;578	.	ENSP00000299971:Q385X	Q	-	1	0	PHLPP2	70258634	1.000000	0.71417	0.977000	0.42913	0.310000	0.27922	8.854000	0.92228	2.773000	0.95371	0.585000	0.79938	CAG		0.463	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		24	43	0	0	0	1	0	24	43					A	71701133	G	A	71701133	4	1	7	1	0	0	0	0	0	1	0	0	11864	1299	45	3	2271	3	PHLPP2	16	71701133	Nonsense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	4121233	71701133	18653620	70	483										
CNTNAP4	85445	broad.mit.edu	37	chr16	76587181	76587181	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	tgtttctttgaatttctagaAcacagtgatgtggaccagga	10	6	2	3			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:76587181A>G	ENST00000476707.1	+	21	3592	c.3453A>G	c.(3451-3453)gaA>gaG	p.E1151E	CNTNAP4_ENST00000377504.4_Splice_Site_p.E1099E|CNTNAP4_ENST00000307431.8_Splice_Site_p.E1147E|RP11-58C22.1_ENST00000563764.1_5'Flank|CNTNAP4_ENST00000478060.1_Splice_Site_p.E1075E|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1148	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AATTTCTAGAACACAGTGATG	0.478																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.e23-1		contactin associated protein-like 4							28	28	28					16																	76587181		1940	4149	6089	SO:0001630	splice_region_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76587181A>G	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3452-1A>G	16.37:g.76587181A>G			Somatic				CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Splice_Site_p.E1099_splice|CNTNAP4_ENST00000476707.1_Splice_Site_p.E1151_splice|CNTNAP4_ENST00000478060.1_Splice_Site_p.E1075_splice	p.E1147_splice	NM_033401.3	NP_207837.2	WXS	Illumina GAIIx	Phase_I	Q9C0A0	CNTP4_HUMAN			23	3826	+			1148			Laminin G-like 4.		E9PFZ6|Q86YZ7	Splice_Site	SNP	ENST00000476707.1	37	c.3439_splice																																																																																					0.478	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	Silent	6	8	0	0	0	1	0	6	8					G	76587181	A	G	76587181	5	3	7	1	0	0	0	0	0	0	1	0	3651	57	2	4	3543	4	CNTNAP4	16	76587181	Splice_Site	SNP	A	TCGA-N5-A4RN-01A-12D-A28R-08	4886048	76587181	13767572	71	484										
FAM92B	339145	broad.mit.edu	37	chr16	85135890	85135890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	aatacacctccaccgctttgGcatggaaaaccatctcaata	5	13	1	0			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:85135890G>A	ENST00000539556.1	-	7	736	c.581C>T	c.(580-582)gCc>gTc	p.A194V		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	194										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						CACCGCTTTGGCATGGAAAAC	0.473																																						ENST00000539556.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						c.(580-582)gCc>gTc		family with sequence similarity 92, member B							93	88	90					16																	85135890		2198	4300	6498	SO:0001583	missense	339145							g.chr16:85135890G>A		CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.581C>T	16.37:g.85135890G>A	ENSP00000443411:p.Ala194Val		Somatic					p.A194V	NM_198491.1	NP_940893.1	WXS	Illumina GAIIx	Phase_I	Q6ZTR7	FA92B_HUMAN			7	736	-			194						Missense_Mutation	SNP	ENST00000539556.1	37	c.581C>T	CCDS32500.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044850	0.75732	.	.	ENSG00000153789	ENST00000393246;ENST00000539556	T	0.60171	0.21	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000002	T	0.76550	0.4003	M	0.83603	2.65	0.39786	D	0.972368	D	0.76494	0.999	D	0.73380	0.98	T	0.80306	-0.1438	10	0.72032	D	0.01	-36.5122	13.1321	0.59389	0.0:0.1606:0.8394:0.0	.	194	Q6ZTR7	FA92B_HUMAN	V	194	ENSP00000443411:A194V	ENSP00000376937:A194V	A	-	2	0	FAM92B	83693391	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	5.033000	0.64146	2.745000	0.94114	0.555000	0.69702	GCC		0.473	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198491		12	35	0	0	0	1	0	12	35					A	85135890	G	A	85135890	3	1	7	1	0	0	0	0	1	0	0	0	5661	1203	42	3	345	3	FAM92B	16	85135890	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	8548709	85135890	5218863	72	485										
TP53	7157	broad.mit.edu	37	chr17	7577097	7577097	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ctcttcctctgtgcgccggtCtctcccaggacaggcacaaa	9	16	3	0			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr17:7577097C>T	ENST00000269305.4	-	8	1030	c.841G>A	c.(841-843)Gac>Aac	p.D281N	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.D281N|TP53_ENST00000445888.2_Missense_Mutation_p.D281N|TP53_ENST00000420246.2_Missense_Mutation_p.D281N|TP53_ENST00000359597.4_Missense_Mutation_p.D281N|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	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(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)	GTGCGCCGGTCTCTCCCAGGA	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"		86	Substitution - Missense(61)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(2)|Complex - insertion inframe(2)	p.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	lung(14)|breast(13)|upper_aerodigestive_tract(8)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(8)|large_intestine(6)|ovary(5)|bone(5)|liver(5)|stomach(4)|central_nervous_system(3)|kidney(2)|skin(2)|biliary_tract(1)|endometrium(1)|oesophagus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM076566	TP53	M		c.(841-843)Gac>Aac	Other conserved DNA damage response genes	tumor protein p53							80	69	73					17																	7577097		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.chr17:7577097C>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.841G>A	17.37:g.7577097C>T	ENSP00000269305:p.Asp281Asn	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.D281N|TP53_ENST00000455263.2_Missense_Mutation_p.D281N|TP53_ENST00000359597.4_Missense_Mutation_p.D281N|TP53_ENST00000445888.2_Missense_Mutation_p.D281N|TP53_ENST00000413465.2_Intron	p.D281N	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	973	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	281		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.841G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	36	5.610260	0.96637	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.33;-7.33;-7.33;-7.33;-7.33;-7.33	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	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.999;0.993	D;D;D;D	0.97110	0.989;1.0;0.989;0.983	D	0.96400	0.9296	10	0.87932	D	0	-25.6697	16.1198	0.81342	0.0:1.0:0.0:0.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	N	281;281;281;281;281;270;149	ENSP00000352610:D281N;ENSP00000269305:D281N;ENSP00000398846:D281N;ENSP00000391127:D281N;ENSP00000391478:D281N;ENSP00000425104:D149N	ENSP00000269305:D281N	D	-	1	0	TP53	7517822	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAC		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	5	0	0	0	1	0	18	5					T	7577097	C	T	7577097	3	4	7	1	0	0	0	0	1	0	0	0	16396	913	32	3	445	3	TP53	17	7577097	Missense_Mutation	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08		7577097	73618113	73	486										
AMAC1	146861	broad.mit.edu	37	chr17	33521054	33521054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ggagttcccagaagggggtcGccacgcagtttaagtagcag	15	9	0	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr17:33521054G>A	ENST00000297307.5	-	1	358	c.273C>T	c.(271-273)ggC>ggT	p.G91G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	91	EamA 1.					integral component of membrane (GO:0016021)											GAAGGGGGTCGCCACGCAGTT	0.587																																						ENST00000297307.5																			0											c.(271-273)ggC>ggT		solute carrier family 35, member G3							139	145	143					17																	33521054		2203	4300	6503	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33521054G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.273C>T	17.37:g.33521054G>A			Somatic					p.G91G	NM_152462.2	NP_689675.1	WXS	Illumina GAIIx	Phase_I	Q8N808	AMAC1_HUMAN			1	358	-			91			DUF6 1.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.273C>T	CCDS11293.1																																																																																				0.587	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		123	13	0	0	0	1	0	123	13					A	33521054	G	A	33521054	2	1	7	1	0	0	0	0	0	0	0	1	559	1074	38	1		1	AMAC1	17	33521054	Silent	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	25943957	33521054	47674156	74	487										
GAST	2520	broad.mit.edu	37	chr17	39872040	39872040	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	acctcctcagacccgtccaaGaagcagggaccatggctgga	11	14	1	2			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr17:39872040G>C	ENST00000329402.3	+	3	289	c.222G>C	c.(220-222)aaG>aaC	p.K74N	JUP_ENST00000540235.1_Intron|RNA5SP442_ENST00000365050.1_RNA	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	74					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)			ACCCGTCCAAGAAGCAGGGAC	0.557																																						ENST00000329402.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(220-222)aaG>aaC		gastrin							93	94	94					17																	39872040		2203	4300	6503	SO:0001583	missense	2520					extracellular region	hormone activity	g.chr17:39872040G>C		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.222G>C	17.37:g.39872040G>C	ENSP00000331358:p.Lys74Asn		Somatic				JUP_ENST00000540235.1_Intron	p.K74N	NM_000805.4	NP_000796.1	WXS	Illumina GAIIx	Phase_I	P01350	GAST_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		3	289	+		Breast(137;0.000307)	74					P78463|P78464	Missense_Mutation	SNP	ENST00000329402.3	37	c.222G>C	CCDS11404.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968513	0.53614	.	.	ENSG00000184502	ENST00000329402	T	0.22134	1.97	4.74	4.74	0.60224	Gastrin/cholecystokinin peptide hormone (1);	0.000000	0.56097	D	0.000031	T	0.40119	0.1104	L	0.58925	1.835	0.36844	D	0.887569	D	0.89917	1.0	D	0.91635	0.999	T	0.30679	-0.9970	10	0.30854	T	0.27	-36.5507	13.1178	0.59309	0.0:0.0:1.0:0.0	.	74	P01350	GAST_HUMAN	N	74	ENSP00000331358:K74N	ENSP00000331358:K74N	K	+	3	2	GAST	37125566	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	1.877000	0.39598	2.455000	0.83008	0.655000	0.94253	AAG		0.557	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257409.1			23	114	0	0	0	1	0	23	114					C	39872040	G	C	39872040	3	2	7	1	0	0	0	0	1	0	0	0	6260	933	33	2	228	2	GAST	17	39872040	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	6350986	39872040	41323170	75	488										
PTPRM	5797	broad.mit.edu	37	chr18	8380347	8380347	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	cagcatcctttgccaaacacAgtgaaagacttttggagact	8	10	0	3			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr18:8380347A>C	ENST00000332175.8	+	27	4838	c.3801A>C	c.(3799-3801)acA>acC	p.T1267T	PTPRM_ENST00000400053.4_Silent_p.T1205T|PTPRM_ENST00000444013.1_Silent_p.T1054T|PTPRM_ENST00000400060.4_Silent_p.T1281T|PTPRM_ENST00000580170.1_Silent_p.T1280T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1267	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)				TGCCAAACACAGTGAAAGACT	0.443																																						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.(3799-3801)acA>acC		protein tyrosine phosphatase, receptor type, M							106	95	99					18																	8380347		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.chr18:8380347A>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.3801A>C	18.37:g.8380347A>C			Somatic				PTPRM_ENST00000444013.1_Silent_p.T1054T|PTPRM_ENST00000400053.4_Silent_p.T1205T|PTPRM_ENST00000400060.4_Silent_p.T1281T|PTPRM_ENST00000580170.1_Silent_p.T1280T	p.T1267T	NM_002845.3	NP_002836.3	WXS	Illumina GAIIx	Phase_I	P28827	PTPRM_HUMAN			27	4838	+		Colorectal(10;0.234)	1267			Tyrosine-protein phosphatase 2.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.3801A>C	CCDS11840.1																																																																																				0.443	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			16	84	0	0	0	1	0	16	84					C	8380347	A	C	8380347	2	2	7	1	0	0	0	0	0	0	0	1	12821	175	7	4		4	PTPRM	18	8380347	Silent	SNP	A	TCGA-N5-A4RN-01A-12D-A28R-08		8380347	69696901	76	489										
APCDD1	147495	broad.mit.edu	37	chr18	10487757	10487757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	aactacctcacacggagtacGagatcttcaaaatggaacag	8	10	3	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr18:10487757G>A	ENST00000355285.5	+	5	1621	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K		NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CACGGAGTACGAGATCTTCAA	0.627																																						ENST00000355285.4																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1267-1269)Gag>Aag		adenomatosis polyposis coli down-regulated 1							80	73	76					18																	10487757		2203	4300	6503	SO:0001583	missense	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10487757G>A	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.1267G>A	18.37:g.10487757G>A	ENSP00000347433:p.Glu423Lys		Somatic					p.E423K	NM_153000.4	NP_694545.1	WXS	Illumina GAIIx	Phase_I	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	5	1621	+			423						Missense_Mutation	SNP	ENST00000355285.5	37	c.1267G>A	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396806	0.96009	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.16073	2.37	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52056	-0.8626	10	0.87932	D	0	-34.143	18.8049	0.92032	0.0:0.0:1.0:0.0	.	423	Q8J025	APCD1_HUMAN	K	423;474	ENSP00000347433:E423K	ENSP00000347433:E423K	E	+	1	0	APCDD1	10477757	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	9.416000	0.97383	2.496000	0.84212	0.563000	0.77884	GAG		0.627	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		27	167	0	0	0	1	0	27	167					A	10487757	G	A	10487757	3	1	7	1	0	0	0	0	1	0	0	0	765	1059	37	1	1285	1	APCDD1	18	10487757	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	2107410	10487757	67589491	77	490										
FAM59A	64762	broad.mit.edu	37	chr18	29850241	29850241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	gggagagcgagtctgttgccGcgctggcttgactgtgcgag	18	9	1	2	rs144218911	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr18:29850241G>A	ENST00000269209.6	-	5	1675	c.1672C>T	c.(1672-1674)Cgg>Tgg	p.R558W	GAREM_ENST00000399218.4_Missense_Mutation_p.R558W			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	558	Pro-rich.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										GTCTGTTGCCGCGCTGGCTTG	0.582																																						ENST00000399218.4																			0											c.(1672-1674)Cgg>Tgg		GRB2 associated, regulator of MAPK1		G	TRP/ARG,TRP/ARG	6,4400	9.9+/-24.2	0,6,2197	155	129	138		1672,1672	4.2	1	18	dbSNP_134	138	0,8600		0,0,4300	yes	missense,missense	FAM59A	NM_001242409.1,NM_022751.2	101,101	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging,probably-damaging	558/877,558/876	29850241	6,13000	2203	4300	6503	SO:0001583	missense	64762							g.chr18:29850241G>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1672C>T	18.37:g.29850241G>A	ENSP00000269209:p.Arg558Trp		Somatic				GAREM_ENST00000269209.6_Missense_Mutation_p.R558W	p.R558W	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1	WXS	Illumina GAIIx	Phase_I					5	1727	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.1672C>T	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293489	0.80914	0.001362	0.0	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.52295	0.67;0.67	5.18	4.22	0.49857	.	0.058749	0.64402	D	0.000002	T	0.57330	0.2046	L	0.32530	0.975	0.47862	D	0.999539	D;D	0.89917	1.0;1.0	D;D	0.68483	0.936;0.958	T	0.61992	-0.6948	10	0.66056	D	0.02	-15.6533	16.4273	0.83818	0.0:0.0:0.8595:0.1405	.	558;558	Q9H706;Q9H706-3	FA59A_HUMAN;.	W	558	ENSP00000382165:R558W;ENSP00000269209:R558W	ENSP00000269209:R558W	R	-	1	2	FAM59A	28104239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.459000	0.80802	2.406000	0.81754	0.650000	0.86243	CGG		0.582	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		16	67	0	0	0	1	0	16	67					A	29850241	G	A	29850241	3	1	7	1	0	0	0	0	1	0	0	0	5600	1086	38	1	963	1	FAM59A	18	29850241	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	19362484	29850241	48227007	78	491										
SLC14A2	8170	broad.mit.edu	37	chr18	43248429	43248429	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	tgttgctacccgtcatcatcAtgtccatgtcttggtaagtt	8	10	4	0			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr18:43248429A>T	ENST00000255226.6	+	15	2839	c.2023A>T	c.(2023-2025)Atg>Ttg	p.M675L	SLC14A2_ENST00000586448.1_Missense_Mutation_p.M675L|SLC14A2_ENST00000589658.1_Missense_Mutation_p.M152L|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	675					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						CGTCATCATCATGTCCATGTC	0.498																																						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.(2023-2025)Atg>Ttg		solute carrier family 14 (urea transporter), member 2							225	179	195					18																	43248429		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43248429A>T	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.2023A>T	18.37:g.43248429A>T	ENSP00000255226:p.Met675Leu		Somatic				SLC14A2_ENST00000589658.1_Missense_Mutation_p.M152L|SLC14A2_ENST00000586448.1_Missense_Mutation_p.M675L	p.M675L	NM_007163.3	NP_009094.3	WXS	Illumina GAIIx	Phase_I	Q15849	UT2_HUMAN			15	2839	+			675					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.2023A>T	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	A	6.365	0.435391	0.12045	.	.	ENSG00000132874	ENST00000255226	T	0.48836	0.8	4.83	4.83	0.62350	.	0.196730	0.36444	N	0.002599	T	0.41766	0.1173	L	0.60455	1.87	0.80722	D	1	B	0.25809	0.135	B	0.28385	0.089	T	0.37033	-0.9723	10	0.36615	T	0.2	-29.6133	7.2086	0.25921	0.8697:0.0:0.1303:0.0	.	675	Q15849	UT2_HUMAN	L	675	ENSP00000255226:M675L	ENSP00000255226:M675L	M	+	1	0	SLC14A2	41502427	0.926000	0.31397	0.880000	0.34516	0.682000	0.39822	2.015000	0.40961	2.027000	0.59764	0.460000	0.39030	ATG		0.498	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			16	88	0	0	0	1	0	16	88					T	43248429	A	T	43248429	3	4	7	1	0	0	0	0	1	0	0	0	14412	217	8	4	2077	4	SLC14A2	18	43248429	Missense_Mutation	SNP	A	TCGA-N5-A4RN-01A-12D-A28R-08	13398188	43248429	34828819	79	492										
MUC16	94025	broad.mit.edu	37	chr19	9073782	9073782	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	atggttctgagctgactgggAgagtggaatgcagtacatgt	15	5	1	3			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:9073782A>G	ENST00000397910.4	-	3	13867	c.13664T>C	c.(13663-13665)cTc>cCc	p.L4555P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4557	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						GCTGACTGGGAGAGTGGAATG	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.(13663-13665)cTc>cCc		mucin 16, cell surface associated							120	116	118					19																	9073782		2097	4213	6310	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073782A>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.13664T>C	19.37:g.9073782A>G	ENSP00000381008:p.Leu4555Pro		Somatic					p.L4555P	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	13867	-			4557			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13664T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	1.506	-0.550663	0.03996	.	.	ENSG00000181143	ENST00000397910	T	0.22743	1.94	1.46	-0.821	0.10822	.	.	.	.	.	T	0.11665	0.0284	N	0.22421	0.69	.	.	.	D	0.53462	0.96	B	0.41332	0.354	T	0.19811	-1.0294	8	0.87932	D	0	.	4.2369	0.10630	0.5467:0.0:0.4533:0.0	.	4555	B5ME49	.	P	4555	ENSP00000381008:L4555P	ENSP00000381008:L4555P	L	-	2	0	MUC16	8934782	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.449000	0.02392	-0.345000	0.08325	0.260000	0.18958	CTC		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	18	0	0	0	1	0	13	18					G	9073782	A	G	9073782	3	3	7	1	0	0	0	0	1	0	0	0	9982	304	11	4	30187	4	MUC16	19	9073782	Missense_Mutation	SNP	A	TCGA-N5-A4RN-01A-12D-A28R-08		9073782	50055201	80	493										
ATP4A	495	broad.mit.edu	37	chr19	36044045	36044045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	agccctcctgggccattgccGtgaagtagtcagtgaagcca	12	12	1	2	rs550481947		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:36044045G>A	ENST00000262623.3	-	18	2673	c.2645C>T	c.(2644-2646)aCg>aTg	p.T882M		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	882					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)	GGCCATTGCCGTGAAGTAGTC	0.602													G|||	1	0.000199681	0	0	5008	,	,		22226	0.001		0	False		,,,				2504	0					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.(2644-2646)aCg>aTg		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						83	81	82					19																	36044045		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36044045G>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.2645C>T	19.37:g.36044045G>A	ENSP00000262623:p.Thr882Met		Somatic					p.T882M	NM_000704.2	NP_000695.2	WXS	Illumina GAIIx	Phase_I	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		18	2673	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		882					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.2645C>T	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596685	0.66332	.	.	ENSG00000105675	ENST00000262623	D	0.88664	-2.41	4.61	4.61	0.57282	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.071986	0.53938	D	0.000046	D	0.93409	0.7898	M	0.69823	2.125	0.40751	D	0.982918	D	0.89917	1.0	D	0.75484	0.986	D	0.93818	0.7116	10	0.52906	T	0.07	.	14.9885	0.71368	0.0:0.0:1.0:0.0	.	882	P20648	ATP4A_HUMAN	M	882	ENSP00000262623:T882M	ENSP00000262623:T882M	T	-	2	0	ATP4A	40735885	0.939000	0.31865	0.994000	0.49952	0.991000	0.79684	1.839000	0.39220	2.377000	0.81083	0.555000	0.69702	ACG		0.602	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		4	132	0	0	0	1	0	4	132					A	36044045	G	A	36044045	3	1	7	1	0	0	0	0	1	0	0	0	1145	1145	40	1	482	1	ATP4A	19	36044045	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	26970263	36044045	23084938	81	494										
SUPT5H	6829	broad.mit.edu	37	chr19	39962347	39962347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ttgtctgcaagacccgccacCtggtgctggctgggggctca	14	13	2	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:39962347C>T	ENST00000599117.1	+	21	2294	c.1927C>T	c.(1927-1929)Ctg>Ttg	p.L643L	SUPT5H_ENST00000598725.1_Silent_p.L643L|SUPT5H_ENST00000432763.2_Silent_p.L643L|SUPT5H_ENST00000359191.6_Silent_p.L639L|SUPT5H_ENST00000402194.2_Silent_p.L639L			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	643					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)			GACCCGCCACCTGGTGCTGGC	0.602																																						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.(1927-1929)Ctg>Ttg		suppressor of Ty 5 homolog (S. cerevisiae)							39	42	41					19																	39962347		2202	4300	6502	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.chr19:39962347C>T	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1927C>T	19.37:g.39962347C>T			Somatic				SUPT5H_ENST00000359191.6_Silent_p.L639L|SUPT5H_ENST00000402194.2_Silent_p.L639L|SUPT5H_ENST00000598725.1_Silent_p.L643L|SUPT5H_ENST00000432763.2_Silent_p.L643L	p.L643L			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)		21	2294	+	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)		643					O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	c.1927C>T	CCDS12536.1																																																																																				0.602	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		10	47	0	0	0	1	0	10	47					T	39962347	C	T	39962347	2	4	7	1	0	0	0	0	0	0	0	1	15414	680	24	3		3	SUPT5H	19	39962347	Silent	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	3918302	39962347	19166636	82	495										
SPTBN4	57731	broad.mit.edu	37	chr19	41072112	41072112	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	caggaggcggtggtggctgaTgcctggctgacagcccagga	18	10	0	2			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:41072112T>C	ENST00000352632.3	+	30	6269	c.6183T>C	c.(6181-6183)gaT>gaC	p.D2061D	SPTBN4_ENST00000598249.1_Silent_p.D2061D|SPTBN4_ENST00000392025.1_Silent_p.D804D|SPTBN4_ENST00000338932.3_Silent_p.D2061D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2061					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)			TGGTGGCTGATGCCTGGCTGA	0.667																																						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.(6181-6183)gaT>gaC		spectrin, beta, non-erythrocytic 4							26	24	25					19																	41072112		2154	4219	6373	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.chr19:41072112T>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.6183T>C	19.37:g.41072112T>C			Somatic				SPTBN4_ENST00000338932.3_Silent_p.D2061D|SPTBN4_ENST00000392025.1_Silent_p.D804D|SPTBN4_ENST00000598249.1_Silent_p.D2061D	p.D2061D			WXS	Illumina GAIIx	Phase_I	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		30	6269	+			2061					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.6183T>C	CCDS12559.1																																																																																				0.667	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			4	4	0	0	0	1	0	4	4					C	41072112	T	C	41072112	2	2	7	1	0	0	0	0	0	0	0	1	15136	1461	51	4		4	SPTBN4	19	41072112	Silent	SNP	T	TCGA-N5-A4RN-01A-12D-A28R-08	1109765	41072112	18056871	83	496										
ADCK4	79934	broad.mit.edu	37	chr19	41220036	41220036	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	cgttctcgagagcggtcactCagctgggaaatggggacaag	15	9	3	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:41220036C>G	ENST00000324464.3	-	4	526	c.225G>C	c.(223-225)ctG>ctC	p.L75L	ADCK4_ENST00000243583.6_Silent_p.L75L|ADCK4_ENST00000450541.1_Silent_p.L75L|ITPKC_ENST00000263370.2_5'Flank	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	75						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			AGCGGTCACTCAGCTGGGAAA	0.617																																						ENST00000324464.3																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17						c.(223-225)ctG>ctC		aarF domain containing kinase 4							80	74	76					19																	41220036		2203	4300	6503	SO:0001819	synonymous_variant	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41220036C>G	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.225G>C	19.37:g.41220036C>G			Somatic				ADCK4_ENST00000243583.6_Silent_p.L75L|ADCK4_ENST00000450541.1_Silent_p.L75L	p.L75L	NM_024876.3	NP_079152.3	WXS	Illumina GAIIx	Phase_I	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		4	526	-			75					Q8TAJ1|Q9HA52	Silent	SNP	ENST00000324464.3	37	c.225G>C	CCDS12562.1																																																																																				0.617	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		4	89	0	0	0	1	0	4	89					G	41220036	C	G	41220036	2	3	7	1	0	0	0	0	0	0	0	1	290	813	29	2		2	ADCK4	19	41220036	Silent	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	147924	41220036	17908947	84	497										
PTPRA	5786	broad.mit.edu	37	chr20	2985712	2985712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	aacctttcaggctctccctgCatgtcctatccaggccacct	6	17	2	0			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr20:2985712C>T	ENST00000216877.6	+	9	1122	c.722C>T	c.(721-723)gCa>gTa	p.A241V	PTPRA_ENST00000399903.2_Missense_Mutation_p.A250V|PTPRA_ENST00000318266.5_Missense_Mutation_p.A241V|PTPRA_ENST00000358719.4_Missense_Mutation_p.A106V|PTPRA_ENST00000356147.3_Missense_Mutation_p.A241V|PTPRA_ENST00000380393.3_Missense_Mutation_p.A250V|PTPRA_ENST00000425918.2_Missense_Mutation_p.A261V	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	250	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCTCTCCCTGCATGTCCTATC	0.438																																						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.(721-723)gCa>gTa		protein tyrosine phosphatase, receptor type, A							227	228	227					20																	2985712		2203	4300	6503	SO:0001583	missense	0				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:2985712C>T		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.722C>T	20.37:g.2985712C>T	ENSP00000216877:p.Ala241Val		Somatic				PTPRA_ENST00000425918.2_Missense_Mutation_p.A261V|PTPRA_ENST00000399903.2_Missense_Mutation_p.A250V|PTPRA_ENST00000380393.3_Missense_Mutation_p.A250V|PTPRA_ENST00000358719.4_Missense_Mutation_p.A106V|PTPRA_ENST00000318266.5_Missense_Mutation_p.A241V|PTPRA_ENST00000356147.3_Missense_Mutation_p.A241V	p.A241V	NM_080840.2	NP_543030.1	WXS	Illumina GAIIx	Phase_I	P18433	PTPRA_HUMAN			9	1122	+			250			Tyrosine-protein phosphatase 1.		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.722C>T	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762043	0.49468	.	.	ENSG00000132670	ENST00000380393;ENST00000455631;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T;T	0.47177	2.73;0.85;2.73;2.73;2.73;2.73;2.73;2.73	5.66	5.66	0.87406	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.227144	0.37761	U	0.001946	T	0.41743	0.1172	L	0.33293	1	0.44188	D	0.997009	B;B;B;B	0.11235	0.001;0.001;0.004;0.002	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.16660	-1.0395	10	0.49607	T	0.09	.	18.5318	0.90995	0.0:1.0:0.0:0.0	.	261;250;250;241	B7Z2A4;P18433-3;P18433;P18433-4	.;.;PTPRA_HUMAN;.	V	250;241;241;250;106;261;241;241	ENSP00000369756:A250V;ENSP00000414089:A241V;ENSP00000216877:A241V;ENSP00000382787:A250V;ENSP00000351559:A106V;ENSP00000393553:A261V;ENSP00000314568:A241V;ENSP00000348468:A241V	ENSP00000216877:A241V	A	+	2	0	PTPRA	2933712	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.309000	0.51903	2.675000	0.91044	0.655000	0.94253	GCA		0.438	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			5	244	0	0	0	1	0	5	244					T	2985712	C	T	2985712	3	4	7	1	0	0	0	0	1	0	0	0	12810	710	25	3	775	3	PTPRA	20	2985712	Missense_Mutation	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08		2985712	60039808	85	498										
CDH22	64405	broad.mit.edu	37	chr20	44856148	44856148	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	gccccgccctgcccctcaccGgtcttggggtccacggtgaa	12	18	2	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr20:44856148G>T	ENST00000372262.3	-	3	1069	c.669C>A	c.(667-669)acC>acA	p.T223T	CDH22_ENST00000537909.1_Splice_Site_p.T223T	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	223	Cadherin 2. {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)				gccccTCACCGGTCTTGGGGT	0.716																																						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.e3+1		cadherin 22, type 2							13	12	12					20																	44856148		2195	4277	6472	SO:0001630	splice_region_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44856148G>T	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.670+1C>A	20.37:g.44856148G>T			Somatic				CDH22_ENST00000537909.1_Splice_Site_p.T223_splice	p.T223_splice	NM_021248.1	NP_067071.1	WXS	Illumina GAIIx	Phase_I	Q9UJ99	CAD22_HUMAN			3	1069	-		Myeloproliferative disorder(115;0.0122)	223			Cadherin 2.		B9EGK7|O43205	Splice_Site	SNP	ENST00000372262.3	37	c.670_splice	CCDS13395.1																																																																																				0.716	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248	Silent	6	20	1	0	0.00198382	1	0.0020716	6	20					T	44856148	G	T	44856148	5	4	7	1	0	0	0	0	0	0	1	0	3109	1130	39	5	1853	5	CDH22	20	44856148	Splice_Site	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	41870436	44856148	18169372	86	499										
TH1L	51497	broad.mit.edu	37	chr20	57564966	57564966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	tttgcccaggccatgatgtcCgtgctggcccaggaggagca	14	12	0	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr20:57564966C>T	ENST00000344018.3	+	7	765	c.738C>T	c.(736-738)tcC>tcT	p.S246S	NELFCD_ENST00000602795.1_Silent_p.S255S			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	246					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)											CCATGATGTCCGTGCTGGCCC	0.617																																						ENST00000602795.1																			0											c.(763-765)tcC>tcT		negative elongation factor complex member C/D							66	55	59					20																	57564966		2203	4300	6503	SO:0001819	synonymous_variant	51497							g.chr20:57564966C>T	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.738C>T	20.37:g.57564966C>T			Somatic				NELFCD_ENST00000344018.3_Silent_p.S246S	p.S255S			WXS	Illumina GAIIx	Phase_I					7	813	+								B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Silent	SNP	ENST00000344018.3	37	c.765C>T																																																																																					0.617	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		24	102	0	0	0	1	0	24	102					T	57564966	C	T	57564966	2	4	7	1	0	0	0	0	0	0	0	1	15854	639	23	1		1	TH1L	20	57564966	Silent	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	12708818	57564966	5460554	87	500										
DEPDC5	9681	broad.mit.edu	37	chr22	32232998	32232998	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	cctgtagtgccaggcttctgTtgcacagttggagtggactg	14	9	1	0			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr22:32232998T>C	ENST00000382112.3	+	25	2254	c.2184T>C	c.(2182-2184)tgT>tgC	p.C728C	RNU6-201P_ENST00000517100.1_RNA|DEPDC5_ENST00000400248.2_Silent_p.C728C|DEPDC5_ENST00000535622.1_Silent_p.C659C|DEPDC5_ENST00000266091.3_Silent_p.C737C|DEPDC5_ENST00000400249.2_Silent_p.C728C|DEPDC5_ENST00000382111.2_Silent_p.C737C|DEPDC5_ENST00000382105.2_Silent_p.C659C|DEPDC5_ENST00000400246.1_Silent_p.C737C	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	737					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						CAGGCTTCTGTTGCACAGTTG	0.577																																						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.(2209-2211)tgT>tgC		DEP domain containing 5							123	116	118					22																	32232998		2034	4180	6214	SO:0001819	synonymous_variant	9681				intracellular signal transduction			g.chr22:32232998T>C	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.2184T>C	22.37:g.32232998T>C			Somatic				DEPDC5_ENST00000382105.2_Silent_p.C659C|DEPDC5_ENST00000382112.3_Silent_p.C728C|DEPDC5_ENST00000382111.2_Silent_p.C737C|DEPDC5_ENST00000400249.2_Silent_p.C728C|DEPDC5_ENST00000400248.1_Silent_p.C728C|DEPDC5_ENST00000266091.3_Silent_p.C737C|DEPDC5_ENST00000535622.1_Silent_p.C659C	p.C737C			WXS	Illumina GAIIx	Phase_I	O75140	DEPD5_HUMAN			26	2353	+			728					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	c.2211T>C	CCDS46692.1																																																																																				0.577	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		30	36	0	0	0	1	0	30	36					C	32232998	T	C	32232998	2	2	7	1	0	0	0	0	0	0	0	1	4444	1731	60	4		4	DEPDC5	22	32232998	Silent	SNP	T	TCGA-N5-A4RN-01A-12D-A28R-08		32232998	19071568	88	501										
RPS6KA6	27330	broad.mit.edu	37	chrX	83403058	83403058	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	ctaattttctaccttttaaaGaggctttttttaacaccttc	3	9	1	1			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chrX:83403058G>A	ENST00000262752.2	-	4	339	c.332C>T	c.(331-333)tCt>tTt	p.S111F	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.S111F	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	111	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.S111F(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						ACCTTTTAAAGAGGCTTTTTT	0.299																																						ENST00000262752.2																			1	Substitution - Missense(1)	p.S111F(1)	skin(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.(331-333)tCt>tTt		ribosomal protein S6 kinase, 90kDa, polypeptide 6							36	33	34					X																	83403058		2201	4292	6493	SO:0001583	missense	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:83403058G>A	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.332C>T	X.37:g.83403058G>A	ENSP00000262752:p.Ser111Phe		Somatic				RPS6KA6_ENST00000543399.1_Missense_Mutation_p.S111F	p.S111F	NM_014496.4	NP_055311.1	WXS	Illumina GAIIx	Phase_I	Q9UK32	KS6A6_HUMAN			4	339	-			111			Protein kinase 1.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.332C>T	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	g	15.95	2.983129	0.53827	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.66995	-0.24;-0.24	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	0.51873	0.1700	N	0.11651	0.15	0.58432	D	0.999996	B;B	0.16396	0.017;0.008	B;B	0.23275	0.045;0.045	T	0.52983	-0.8502	10	0.87932	D	0	.	17.1472	0.86769	0.0:0.0:1.0:0.0	.	111;111	B7ZL90;Q9UK32	.;KS6A6_HUMAN	F	111	ENSP00000262752:S111F;ENSP00000440830:S111F	ENSP00000262752:S111F	S	-	2	0	RPS6KA6	83289714	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	5.702000	0.68332	2.071000	0.62044	0.464000	0.42555	TCT		0.299	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		9	14	0	0	0	1	0	9	14					A	83403058	G	A	83403058	3	1	7	1	0	0	0	0	1	0	0	0	13670	942	33	3	1981	3	RPS6KA6	23	83403058	Missense_Mutation	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08		83403058	71867502	89	502										
RAB33A	9363	broad.mit.edu	37	chrX	129306073	129306073	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	tgggccatgggagcctgcagCccgcctcggccgctggcctg	16	16	0	0	rs200877853		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chrX:129306073C>A	ENST00000257017.4	+	1	451	c.37C>A	c.(37-39)Ccc>Acc	p.P13T		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	13					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GAGCCTGCAGCCCGCCTCGGC	0.647																																						ENST00000257017.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(37-39)Ccc>Acc		RAB33A, member RAS oncogene family							26	23	24					X																	129306073		2201	4298	6499	SO:0001583	missense	9363				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chrX:129306073C>A	D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"RAB, member RAS oncogene"	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.37C>A	X.37:g.129306073C>A	ENSP00000257017:p.Pro13Thr		Somatic					p.P13T	NM_004794.2	NP_004785.1	WXS	Illumina GAIIx	Phase_I	Q14088	RB33A_HUMAN			1	451	+			13					Q5JUZ6|Q92465	Missense_Mutation	SNP	ENST00000257017.4	37	c.37C>A	CCDS14621.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506368	0.26949	.	.	ENSG00000134594	ENST00000257017	T	0.67865	-0.29	5.2	3.29	0.37713	.	0.609453	0.16245	N	0.222991	T	0.37404	0.1002	N	0.08118	0	0.31612	N	0.651307	B	0.17038	0.02	B	0.14578	0.011	T	0.38436	-0.9661	10	0.02654	T	1	-10.4557	7.6864	0.28542	0.0:0.6432:0.2596:0.0972	.	13	Q14088	RB33A_HUMAN	T	13	ENSP00000257017:P13T	ENSP00000257017:P13T	P	+	1	0	RAB33A	129133754	0.949000	0.32298	0.950000	0.38849	0.714000	0.41099	1.710000	0.37920	2.292000	0.77174	0.556000	0.70494	CCC		0.647	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794		19	18	1	0	5.35267e-07	1	5.84828e-07	19	18					A	129306073	C	A	129306073	3	1	7	1	0	0	0	0	1	0	0	0	12937	739	26	5	39	5	RAB33A	23	129306073	Missense_Mutation	SNP	C	TCGA-N5-A4RN-01A-12D-A28R-08	45903015	129306073	25964487	90	503										
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0769230769230769	7	1	1.12401215805471	3.7734693877551	0.736286709805874	1	1	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A			Somatic				HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	WXS	Illumina GAIIx	Phase_I	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	31	0	0	0	1	0	3	31					A	150156360	G	A	150156360	2	1	7	1	0	0	0	0	0	0	0	1	7236	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-N5-A4RN-01A-12D-A28R-08	20850287	150156360	5114200	91	504										
CASZ1	54897	broad.mit.edu	37	chr1	10699459	10699459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	tgggaggcccgggcgcggggCcctctgccgcgggctcgccg	20	16	1	0			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:10699459C>T	ENST00000377022.3	-	21	5137	c.4820G>A	c.(4819-4821)gGc>gAc	p.G1607D	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1607					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)		GGGCGCGGGGCCCTCTGCCGC	0.746																																						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.(4819-4821)gGc>gAc		castor zinc finger 1							5	7	6					1																	10699459		1655	3659	5314	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10699459C>T	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.4820G>A	1.37:g.10699459C>T	ENSP00000366221:p.Gly1607Asp		Somatic				RP4-734G22.3_ENST00000606802.1_RNA	p.G1607D	NM_001079843.1	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)	21	5137	-	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)	1607					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.4820G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	8.553	0.875890	0.17395	.	.	ENSG00000130940	ENST00000377022	.	.	.	2.17	2.17	0.27698	.	99.057700	0.01225	U	0.008200	T	0.41328	0.1154	N	0.19112	0.55	0.80722	D	1	B	0.34290	0.447	B	0.30646	0.118	T	0.21314	-1.0249	9	0.41790	T	0.15	.	11.1397	0.48396	0.0:1.0:0.0:0.0	.	1607	Q86V15	CASZ1_HUMAN	D	1607	.	ENSP00000366221:G1607D	G	-	2	0	CASZ1	10622046	1.000000	0.71417	0.988000	0.46212	0.451000	0.32288	1.346000	0.33964	1.156000	0.42514	0.195000	0.17529	GGC		0.746	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		4	6	0	0	0	1	0	4	6					T	10699459	C	T	10699459	3	4	8	1	0	0	0	0	1	0	0	0	2687	739	26	3	463	3	CASZ1	1	10699459	Missense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08		10699459	238551162	1	505										
B4GALT2	8704	broad.mit.edu	37	chr1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-													0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	atgccctccacccagctgctAgcagcagcagcagcagcagc					rs149892509		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)agcdel	p.S65del	B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.A14del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					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)	CCCAGCTGCTagcagcagcagca	0.685																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(175-177)del		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)		,,	4,48,4198		0,0,4,5,38,2078					,,		1		dbSNP_130	46	6,104,8118		1,0,4,11,82,4016	no	codingComplex,codingComplex,codingComplex	B4GALT2	NM_030587.2,NM_003780.4,NM_001005417.2	,,	1,0,8,16,120,6094	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3369,1.2235,1.2983	,,	,,		10,152,12316				SO:0001651	inframe_deletion	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.chr1:44447007_44447009delAGC	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.175_177delAGC	1.37:g.44447016_44447018delAGC	ENSP00000349293:p.Ser65del		Somatic				B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del	p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	WXS	Illumina GAIIx	Phase_I	O60909	B4GT2_HUMAN			2	965_967	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	65					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	In_Frame_Del	DEL	ENST00000356836.6	37	c.175_177delAGC	CCDS506.1																																																																																				0.685	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		7	124						7	124	---	---	---	---	-	44447009	AGC	-	44447007	7	5	8	1	0	1	0	1	0	0	0	0	1271	420	15	0	177	0	B4GALT2	1	44447007	In_Frame_Del	DEL	AGC	TCGA-N5-A4RO-01A-11D-A28R-08	33747548	44447007	204803614	2	506										
OMA1	115209	broad.mit.edu	37	chr1	59004951	59004951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	tctagcagcagactgcaatcCacagatgaagctcatttttt	7	10	2	3			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:59004951C>T	ENST00000371226.3	-	2	129	c.16G>A	c.(16-18)Gga>Aga	p.G6R	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.G6R	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	6					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)					GACTGCAATCCACAGATGAAG	0.363																																						ENST00000371226.3																			0				NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18						c.(16-18)Gga>Aga		OMA1 zinc metallopeptidase							41	42	42					1																	59004951		2201	4300	6501	SO:0001583	missense	115209				proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	g.chr1:59004951C>T	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.16G>A	1.37:g.59004951C>T	ENSP00000360270:p.Gly6Arg		Somatic				OMA1_ENST00000467063.1_Intron|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.G6R	p.G6R	NM_145243.3	NP_660286.1	WXS	Illumina GAIIx	Phase_I	Q96E52	OMA1_HUMAN			2	129	-	all_cancers(7;6.54e-05)		6					D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	ENST00000371226.3	37	c.16G>A	CCDS608.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208121	0.79240	.	.	ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980;ENST00000419242;ENST00000426139;ENST00000453710	T;T;T;T;T;T	0.38887	2.22;2.23;1.58;1.53;1.47;1.11	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000009	T	0.61362	0.2341	L	0.59436	1.845	0.42771	D	0.993837	D;D	0.89917	1.0;1.0	D;D	0.79108	0.988;0.992	T	0.57911	-0.7729	9	.	.	.	-20.4559	17.5023	0.87735	0.0:1.0:0.0:0.0	.	6;6	Q96E52;Q96E52-2	OMA1_HUMAN;.	R	6	ENSP00000351417:G6R;ENSP00000360270:G6R;ENSP00000395053:G6R;ENSP00000409589:G6R;ENSP00000416495:G6R;ENSP00000392978:G6R	.	G	-	1	0	OMA1	58777539	0.874000	0.30092	0.998000	0.56505	0.737000	0.42083	1.474000	0.35398	2.793000	0.96121	0.655000	0.94253	GGA		0.363	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243		12	25	0	0	0	1	0	12	25					T	59004951	C	T	59004951	3	4	8	1	0	0	0	0	1	0	0	0	10873	603	21	3	1590	3	OMA1	1	59004951	Missense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08	14557944	59004951	190245670	3	507										
SETDB1	9869	broad.mit.edu	37	chr1	150933333	150933333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	tgctacccggaggcagacccGgggccagaaagagaacggac	15	12	0	3			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:150933333G>A	ENST00000271640.5	+	16	2985	c.2795G>A	c.(2794-2796)cGg>cAg	p.R932Q	SETDB1_ENST00000368969.4_Missense_Mutation_p.R932Q|SETDB1_ENST00000459773.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	932	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGCAGACCCGGGGCCAGAAA	0.532																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2794-2796)cGg>cAg		SET domain, bifurcated 1							91	97	95					1																	150933333		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150933333G>A	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.2795G>A	1.37:g.150933333G>A	ENSP00000271640:p.Arg932Gln		Somatic				SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Missense_Mutation_p.R932Q	p.R932Q	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)		16	2985	+	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)		932			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.2795G>A	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518051	0.85495	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;T	0.89196	-2.48;-2.46;1.05	5.54	5.54	0.83059	SET domain (3);	0.101850	0.64402	D	0.000005	D	0.84316	0.5445	L	0.29908	0.895	0.80722	D	1	P;D;D	0.58268	0.95;0.977;0.982	P;P;P	0.51016	0.521;0.525;0.656	D	0.86749	0.1959	10	0.62326	D	0.03	.	14.7855	0.69800	0.0712:0.0:0.9288:0.0	.	932;932;932	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	Q	932	ENSP00000271640:R932Q;ENSP00000357965:R932Q;ENSP00000432348:R932Q	ENSP00000271640:R932Q	R	+	2	0	SETDB1	149199957	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.515000	0.67049	2.625000	0.88918	0.456000	0.33151	CGG		0.532	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			41	65	0	0	0	1	0	41	65					A	150933333	G	A	150933333	3	1	8	1	0	0	0	0	1	0	0	0	14153	1116	39	1	2853	1	SETDB1	1	150933333	Missense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08	91928382	150933333	98317288	4	508										
KPRP	448834	broad.mit.edu	37	chr1	152732884	152732884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	gcagctgttccccaccaagaCgttttgagccctgctccagc	9	16	0	2	rs148079077		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:152732884C>T	ENST00000606109.1	+	1	848	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	KPRP_ENST00000368773.1_Missense_Mutation_p.R274C			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	274	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R274C(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCACCAAGACGTTTTGAGCC	0.592																																						ENST00000368773.1																			1	Substitution - Missense(1)	p.R274C(1)	endometrium(1)	NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(820-822)Cgt>Tgt		keratinocyte proline-rich protein		C	CYS/ARG	0,4406		0,0,2203	37	44	42		820	-1.8	0	1	dbSNP_134	42	1,8599	1.2+/-3.3	0,1,4299	no	missense	KPRP	NM_001025231.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	274/580	152732884	1,13005	2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732884C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.820C>T	1.37:g.152732884C>T	ENSP00000475216:p.Arg274Cys		Somatic				KPRP_ENST00000606109.1_Missense_Mutation_p.R274C	p.R274C	NM_001025231.1	NP_001020402.1	WXS	Illumina GAIIx	Phase_I	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	878	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		274			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.820C>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627313	0.28978	0.0	1.16E-4	ENSG00000203786	ENST00000368773	T	0.12672	2.66	5.15	-1.8	0.07907	.	0.756933	0.11753	N	0.532862	T	0.02688	0.0081	L	0.29908	0.895	0.09310	N	1	B	0.24533	0.105	B	0.17433	0.018	T	0.42783	-0.9431	10	0.87932	D	0	-1.6297	5.2582	0.15558	0.5569:0.2776:0.0:0.1656	.	274	Q5T749	KPRP_HUMAN	C	274	ENSP00000357762:R274C	ENSP00000357762:R274C	R	+	1	0	KPRP	150999508	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.096000	0.03353	-0.093000	0.12396	0.655000	0.94253	CGT		0.592	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		63	39	0	0	0	1	0	63	39					T	152732884	C	T	152732884	3	4	8	1	0	0	0	0	1	0	0	0	8445	536	19	1	822	1	KPRP	1	152732884	Missense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08	1799551	152732884	96517737	5	509										
CACNA1E	777	broad.mit.edu	37	chr1	181702035	181702035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	ggagtcctcttcagcctcccGgagcaggtctgccagccagg	13	15	3	0			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:181702035G>A	ENST00000367573.2	+	20	2813	c.2813G>A	c.(2812-2814)cGg>cAg	p.R938Q	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R938Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R545Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R919Q|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R919Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R870Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R889Q	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	938					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.R938Q(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						TCAGCCTCCCGGAGCAGGTCT	0.642																																						ENST00000526775.1																			1	Substitution - Missense(1)	p.R938Q(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.(2755-2757)cGg>cAg		calcium channel, voltage-dependent, R type, alpha 1E subunit							71	79	76					1																	181702035		2158	4266	6424	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702035G>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.2813G>A	1.37:g.181702035G>A	ENSP00000356545:p.Arg938Gln		Somatic				CACNA1E_ENST00000367567.4_Missense_Mutation_p.R545Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R870Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R938Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R889Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R919Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R938Q	p.R919Q	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			19	2921	+			938					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2756G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416146	0.25552	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96232	-3.88;-3.88;-3.88;-3.88;-3.95;-3.89;-3.88	4.03	3.12	0.35913	.	0.961698	0.08658	N	0.912939	D	0.89255	0.6663	N	0.08118	0	0.21604	N	0.999629	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.80750	-0.1243	10	0.30854	T	0.27	.	5.6446	0.17582	0.301:0.0:0.699:0.0	.	919;938;938	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	Q	938;919;889;870;545;919;938	ENSP00000356542:R938Q;ENSP00000434814:R919Q;ENSP00000350183:R889Q;ENSP00000351101:R870Q;ENSP00000356539:R545Q;ENSP00000353222:R919Q;ENSP00000356545:R938Q	ENSP00000350183:R889Q	R	+	2	0	CACNA1E	179968658	0.933000	0.31639	0.965000	0.40720	0.551000	0.35334	0.881000	0.28173	1.281000	0.44480	0.555000	0.69702	CGG		0.642	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		46	90	0	0	0	1	0	46	90					A	181702035	G	A	181702035	3	1	8	1	0	0	0	0	1	0	0	0	2544	1116	39	1	2891	1	CACNA1E	1	181702035	Missense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08	28969151	181702035	67548586	6	510										
MOSC2	54996	broad.mit.edu	37	chr1	220936325	220936325	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	agatttgaataccaggatggAgaagaaaatgaaaatggaga	12	2	0	6			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:220936325A>G	ENST00000366913.3	+	4	881	c.683A>G	c.(682-684)gAg>gGg	p.E228G	MARC2_ENST00000359316.2_Missense_Mutation_p.E228G	NM_017898.3	NP_060368.2	Q969Z3	MARC2_HUMAN	mitochondrial amidoxime reducing component 2	228	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										ACCAGGATGGAGAAGAAAATG	0.493																																						ENST00000366913.3																			0											c.(682-684)gAg>gGg		mitochondrial amidoxime reducing component 2							133	132	133					1																	220936325		2203	4300	6503	SO:0001583	missense	54996					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220936325A>G		CCDS1525.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000117791	ENSG00000117791			26064	protein-coding gene	gene with protein product		614127	"MOCO sulphurase C-terminal domain containing 2"	MOSC2		11886751	Standard	NM_017898		Approved	FLJ20605	uc001hmq.3	Q969Z3	OTTHUMG00000037354	ENST00000366913.3:c.683A>G	1.37:g.220936325A>G	ENSP00000355880:p.Glu228Gly		Somatic				MARC2_ENST00000359316.2_Missense_Mutation_p.E228G	p.E228G	NM_017898.3	NP_060368.2	WXS	Illumina GAIIx	Phase_I	Q969Z3	MOSC2_HUMAN			4	881	+			228			MOSC.		B2D0R5|D3DTB3|Q0JSK7|Q5VT67|Q5VXC7|Q7L317|Q9H066|Q9NWU0	Missense_Mutation	SNP	ENST00000366913.3	37	c.683A>G	CCDS1525.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.158015	0.57368	.	.	ENSG00000117791	ENST00000359316;ENST00000366913;ENST00000425560	T;T;T	0.31510	1.49;2.39;2.39	5.55	5.55	0.83447	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);	0.339951	0.27705	N	0.018188	T	0.34221	0.0890	L	0.49126	1.545	0.41225	D	0.986539	P;P	0.38129	0.619;0.567	B;B	0.42245	0.381;0.366	T	0.11690	-1.0577	10	0.45353	T	0.12	-11.3818	13.2153	0.59856	1.0:0.0:0.0:0.0	.	228;228	Q969Z3-2;Q969Z3	.;MOSC2_HUMAN	G	228;228;129	ENSP00000352266:E228G;ENSP00000355880:E228G;ENSP00000416442:E129G	ENSP00000352266:E228G	E	+	2	0	MOSC2	219002948	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	4.241000	0.58707	2.103000	0.63969	0.533000	0.62120	GAG		0.493	MARC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090911.1	NM_017898		29	53	0	0	0	1	0	29	53					G	220936325	A	G	220936325	3	3	8	1	0	0	0	0	1	0	0	0	9723	304	11	4	697	4	MOSC2	1	220936325	Missense_Mutation	SNP	A	TCGA-N5-A4RO-01A-11D-A28R-08	39234290	220936325	28314296	7	511										
C2orf71	388939	broad.mit.edu	37	chr2	29293880	29293880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	atggggagggaatcgagaaaGgggggcttgcttctgggtgc	20	5	1	1			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:29293880G>A	ENST00000331664.5	-	1	3247	c.3248C>T	c.(3247-3249)cCt>cTt	p.P1083L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1083	Pro-rich.				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						AATCGAGAAAGGGGGGCTTGC	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.(3247-3249)cCt>cTt		chromosome 2 open reading frame 71							57	65	63					2																	29293880		1891	4089	5980	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29293880G>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.3248C>T	2.37:g.29293880G>A	ENSP00000332809:p.Pro1083Leu		Somatic					p.P1083L	NM_001029883.2	NP_001025054.1	WXS	Illumina GAIIx	Phase_I	A6NGG8	CB071_HUMAN			1	3247	-			1083			Pro-rich.			Missense_Mutation	SNP	ENST00000331664.5	37	c.3248C>T	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541900	0.27563	.	.	ENSG00000179270	ENST00000331664	T	0.20069	2.1	5.52	4.64	0.57946	.	0.309893	0.30639	N	0.009197	T	0.15912	0.0383	L	0.43152	1.355	0.09310	N	1	B	0.29508	0.246	B	0.25759	0.063	T	0.18935	-1.0321	10	0.16896	T	0.51	-2.5932	10.0089	0.41975	0.0724:0.1375:0.7901:0.0	.	1083	A6NGG8	CB071_HUMAN	L	1083	ENSP00000332809:P1083L	ENSP00000332809:P1083L	P	-	2	0	C2orf71	29147384	0.947000	0.32204	0.019000	0.16419	0.025000	0.11179	2.635000	0.46537	1.328000	0.45358	0.655000	0.94253	CCT		0.602	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		44	96	0	0	0	1	0	44	96					A	29293880	G	A	29293880	3	1	8	1	0	0	0	0	1	0	0	0	2193	1000	35	3	626	3	C2orf71	2	29293880	Missense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08		29293880	213905493	8	512										
RTN4	57142	broad.mit.edu	37	chr2	55276891	55276892	+	Frame_Shift_Del	DEL	CG	CG	-													0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	cggcactcacccactgagccCgaggagcccctgcgcttggg					rs535895623		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:55276891_55276892delCG	ENST00000337526.6	-	1	788_789	c.545_546delCG	c.(544-546)tcgfs	p.S182fs	RTN4_ENST00000354474.6_Intron|RTN4_ENST00000404909.1_Intron|RTN4_ENST00000317610.7_Frame_Shift_Del_p.S182fs|RTN4_ENST00000402434.2_Frame_Shift_Del_p.S154fs|RTN4_ENST00000357376.3_5'Flank|RTN4_ENST00000394611.2_Intron|RTN4_ENST00000357732.4_Frame_Shift_Del_p.S182fs|RTN4_ENST00000405240.1_5'Flank	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	182					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CCACTGAGCCCGAGGAGCCCCT	0.757																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(544-546)tfs		reticulon 4																																				SO:0001589	frameshift_variant	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55276891_55276892delCG	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.545_546delCG	2.37:g.55276891_55276892delCG	ENSP00000337838:p.Ser182fs		Somatic				RTN4_ENST00000402434.2_Frame_Shift_Del_p.S154fs|RTN4_ENST00000394611.2_Intron|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000317610.7_Frame_Shift_Del_p.S182fs|RTN4_ENST00000404909.1_Intron|RTN4_ENST00000357732.4_Frame_Shift_Del_p.S182fs	p.S182fs	NM_020532.4	NP_065393.1	WXS	Illumina GAIIx	Phase_I	Q9NQC3	RTN4_HUMAN			1	788_789	-			182					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Frame_Shift_Del	DEL	ENST00000337526.6	37	c.545_546delCG	CCDS42684.1																																																																																				0.757	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			2	4						2	4	---	---	---	---	-	55276892	CG	-	55276891	7	5	8	1	0	1	0	1	0	0	0	0	13743	639	23	0	3106	0	RTN4	2	55276891	Frame_Shift_Del	DEL	CG	TCGA-N5-A4RO-01A-11D-A28R-08	25983011	55276891	187922482	9	513										
CHRNA1	1134	broad.mit.edu	37	chr2	175624069	175624069	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	gctaagttacctgtttcagaCgcacattggttgtcacgatc	9	10	2	1	rs147488907		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:175624069C>A	ENST00000261007.5	-	3	290	c.224G>T	c.(223-225)cGt>cTt	p.R75L	CHRNA1_ENST00000348749.5_Missense_Mutation_p.R75L|CHRNA1_ENST00000409323.1_Missense_Mutation_p.R75L|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.R75L|CHRNA1_ENST00000409219.1_Missense_Mutation_p.R75L	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	75					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	CTGTTTCAGACGCACATTGGT	0.443																																						ENST00000348749.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(223-225)cGt>cTt		cholinergic receptor, nicotinic, alpha 1 (muscle)							106	101	103					2																	175624069		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175624069C>A	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.224G>T	2.37:g.175624069C>A	ENSP00000261007:p.Arg75Leu		Somatic				CHRNA1_ENST00000409219.1_Missense_Mutation_p.R75L|CHRNA1_ENST00000261007.5_Missense_Mutation_p.R75L|CHRNA1_ENST00000409323.1_Missense_Mutation_p.R75L|CHRNA1_ENST00000409542.1_Missense_Mutation_p.R75L|AC018890.6_ENST00000442996.1_RNA	p.R75L	NM_000079.3	NP_000070.1	WXS	Illumina GAIIx	Phase_I	P02708	ACHA_HUMAN			3	301	-			75					B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.224G>T	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374499	0.82573	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219;ENST00000409323	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel ligand-binding (3);	0.097667	0.64402	D	0.000001	D	0.86969	0.6061	L	0.59436	1.845	0.80722	D	1	D;D;D	0.65815	0.989;0.991;0.995	P;D;D	0.71414	0.854;0.934;0.973	D	0.86844	0.2019	10	0.87932	D	0	.	20.3789	0.98926	0.0:1.0:0.0:0.0	.	75;75;75	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	L	75	ENSP00000261008:R75L;ENSP00000261007:R75L;ENSP00000387026:R75L;ENSP00000386611:R75L;ENSP00000386684:R75L	ENSP00000261007:R75L	R	-	2	0	CHRNA1	175332315	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.768000	0.85345	2.826000	0.97356	0.563000	0.77884	CGT		0.443	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			7	71	1	0	2.7689e-08	1	3.02351e-08	7	71					A	175624069	C	A	175624069	3	1	8	1	0	0	0	0	1	0	0	0	3383	536	19	5	1256	5	CHRNA1	2	175624069	Missense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08	120347178	175624069	67575304	10	514										
TTN	7273	broad.mit.edu	37	chr2	179594664	179594664	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	actgggcttcttaatgaattGaggaggttctaaagatggaa	12	4	2	3			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:179594664G>C	ENST00000591111.1	-	61	17589	c.17365C>G	c.(17365-17367)Caa>Gaa	p.Q5789E	TTN_ENST00000342992.6_Missense_Mutation_p.Q4862E|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.Q6106E|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12591	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)			TTAATGAATTGAGGAGGTTCT	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.(18316-18318)Caa>Gaa		titin							33	32	32					2																	179594664		1843	4094	5937	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594664G>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.17365C>G	2.37:g.179594664G>C	ENSP00000465570:p.Gln5789Glu		Somatic				TTN_ENST00000591111.1_Missense_Mutation_p.Q5789E|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q4862E	p.Q6106E	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	18540	-			5789			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.18316C>G		.	.	.	.	.	.	.	.	.	.	G	11.93	1.786500	0.31593	.	.	ENSG00000155657	ENST00000342992	T	0.65916	-0.18	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46658	0.1404	N	0.16130	0.375	0.80722	D	1	B	0.29432	0.244	B	0.28305	0.088	T	0.50004	-0.8878	9	0.87932	D	0	.	13.2478	0.60033	0.0:0.0:0.739:0.261	.	5789	Q8WZ42	TITIN_HUMAN	E	4862	ENSP00000343764:Q4862E	ENSP00000343764:Q4862E	Q	-	1	0	TTN	179302909	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.685000	0.74543	2.805000	0.96524	0.655000	0.94253	CAA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	18	0	0	0	1	0	9	18					C	179594664	G	C	179594664	3	2	8	1	0	0	0	0	1	0	0	0	16750	1299	45	2	86413	2	TTN	2	179594664	Missense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08	3970595	179594664	63604709	11	515										
INO80D	54891	broad.mit.edu	37	chr2	206921004	206921004	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	tgcagtcggcttatacatgaGaagtgtggagagaaggctgt	15	5	0	2			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:206921004G>C	ENST00000403263.1	-	4	1286	c.882C>G	c.(880-882)ttC>ttG	p.F294L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	294					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TTATACATGAGAAGTGTGGAG	0.517																																						ENST00000403263.1																			0				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						c.(880-882)ttC>ttG		INO80 complex subunit D							96	102	100					2																	206921004		2009	4175	6184	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206921004G>C		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.882C>G	2.37:g.206921004G>C	ENSP00000384198:p.Phe294Leu		Somatic					p.F294L	NM_017759.4	NP_060229.3	WXS	Illumina GAIIx	Phase_I	Q53TQ3	IN80D_HUMAN			4	1286	-			294					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.882C>G	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	G	9.779	1.174732	0.21704	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.28255	1.62;1.62	5.74	2.58	0.30949	.	0.297456	0.37906	N	0.001888	T	0.16041	0.0386	N	0.14661	0.345	0.22571	N	0.998977	B	0.02656	0.0	B	0.01281	0.0	T	0.16689	-1.0394	10	0.34782	T	0.22	.	8.0931	0.30811	0.0:0.3438:0.3338:0.3225	.	294	Q53TQ3-2	.	L	294;294;189	ENSP00000384198:F294L;ENSP00000402369:F189L	ENSP00000233270:F294L	F	-	3	2	INO80D	206629249	0.995000	0.38212	0.998000	0.56505	0.604000	0.37047	0.278000	0.18753	0.726000	0.32339	0.585000	0.79938	TTC		0.517	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		25	60	0	0	0	1	0	25	60					C	206921004	G	C	206921004	3	2	8	1	0	0	0	0	1	0	0	0	7758	933	33	2	2233	2	INO80D	2	206921004	Missense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08	27326340	206921004	36278369	12	516										
DYTN	391475	broad.mit.edu	37	chr2	207569605	207569605	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	tagttttctcaaaacccttcGagtcatgcgtggcccagaat	8	11	2	1	rs372283021		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:207569605G>A	ENST00000452335.2	-	5	561	c.445C>T	c.(445-447)Cga>Tga	p.R149*	DYTN_ENST00000477734.1_5'UTR	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	149						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)		AAAACCCTTCGAGTCATGCGT	0.358																																						ENST00000452335.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36						c.(445-447)Cga>Tga		dystrotelin		G	stop/ARG	0,3936		0,0,1968	91	94	93		445	4	1	2		93	1,8357		0,1,4178	no	stop-gained	DYTN	NM_001093730.1		0,1,6146	AA,AG,GG		0.012,0.0,0.0081		149/579	207569605	1,12293	1968	4179	6147	SO:0001587	stop_gained	391475					plasma membrane	zinc ion binding	g.chr2:207569605G>A	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.445C>T	2.37:g.207569605G>A	ENSP00000396593:p.Arg149*		Somatic				DYTN_ENST00000477734.1_5'UTR	p.R149*	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)	5	561	-			149						Nonsense_Mutation	SNP	ENST00000452335.2	37	c.445C>T	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598738	0.66332	0.0	1.2E-4	ENSG00000232125	ENST00000452335	.	.	.	4.97	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-7.7032	9.1733	0.37096	0.08:0.0:0.7737:0.1464	.	.	.	.	X	149	.	ENSP00000396593:R149X	R	-	1	2	DYTN	207277850	0.675000	0.27558	0.979000	0.43373	0.047000	0.14425	2.406000	0.44557	2.736000	0.93811	0.655000	0.94253	CGA		0.358	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			17	11	0	0	0	1	0	17	11					A	207569605	G	A	207569605	4	1	8	1	0	0	0	0	0	1	0	0	4863	1066	37	1	1323	1	DYTN	2	207569605	Nonsense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08	648601	207569605	35629768	13	517										
CLASP2	23122	broad.mit.edu	37	chr3	33592874	33592874	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	gagtttctatgtatttaaggAtagcaaccttcacctgcaga	8	8	2	1			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:33592874A>G	ENST00000468888.2	-	30	3093	c.3047T>C	c.(3046-3048)aTc>aCc	p.I1016T	CLASP2_ENST00000480013.1_Missense_Mutation_p.I795T|CLASP2_ENST00000359576.5_Missense_Mutation_p.I1007T|CLASP2_ENST00000307312.7_Missense_Mutation_p.I497T|CLASP2_ENST00000461133.3_Missense_Mutation_p.I775T|CLASP2_ENST00000399362.4_Missense_Mutation_p.I1015T|CLASP2_ENST00000539981.1_Missense_Mutation_p.I785T			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	796	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)			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						GTATTTAAGGATAGCAACCTT	0.408																																						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.(3043-3045)aTc>aCc		cytoplasmic linker associated protein 2							61	59	60					3																	33592874		1858	4101	5959	SO:0001583	missense	23122							g.chr3:33592874A>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.3047T>C	3.37:g.33592874A>G	ENSP00000419974:p.Ile1016Thr		Somatic				CLASP2_ENST00000539981.1_Missense_Mutation_p.I785T|CLASP2_ENST00000468888.2_Missense_Mutation_p.I1016T|CLASP2_ENST00000461133.3_Missense_Mutation_p.I775T|CLASP2_ENST00000359576.5_Missense_Mutation_p.I1007T|CLASP2_ENST00000307312.7_Missense_Mutation_p.I497T|CLASP2_ENST00000480013.1_Missense_Mutation_p.I795T	p.I1015T	NM_015097.2	NP_055912.2	WXS	Illumina GAIIx	Phase_I	B2RTR1	B2RTR1_HUMAN			30	3397	-			1017					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.3044T>C		.	.	.	.	.	.	.	.	.	.	A	16.03	3.007359	0.54361	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	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	5.27	0.74061	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62539	0.2436	L	0.28274	0.84	0.80722	D	1	B;P;B	0.50528	0.397;0.936;0.205	B;P;B	0.50934	0.146;0.654;0.045	T	0.61978	-0.6951	10	0.33940	T	0.23	-11.3347	14.0437	0.64693	1.0:0.0:0.0:0.0	.	796;1007;1015	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	T	1016;1015;1007;497;785;795;775	ENSP00000419974:I1016T;ENSP00000382297:I1015T;ENSP00000352581:I1007T;ENSP00000304743:I497T;ENSP00000439039:I785T;ENSP00000417518:I795T;ENSP00000419305:I775T	ENSP00000304743:I497T	I	-	2	0	CLASP2	33567878	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.283000	0.95860	2.106000	0.64143	0.482000	0.46254	ATC		0.408	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		4	30	0	0	0	1	0	4	30					G	33592874	A	G	33592874	3	3	8	1	0	0	0	0	1	0	0	0	3457	333	12	4	1537	4	CLASP2	3	33592874	Missense_Mutation	SNP	A	TCGA-N5-A4RO-01A-11D-A28R-08		33592874	164429556	14	518										
UQCRC1	7384	broad.mit.edu	37	chr3	48637920	48637920	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	agctgtaggactcaccatctAgatgagataccagggcattt	10	9	2	2			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:48637920A>T	ENST00000203407.5	-	10	1624	c.1208T>A	c.(1207-1209)cTa>cAa	p.L403Q		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	403					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)			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)		CTCACCATCTAGATGAGATAC	0.567																																					NSCLC(81;1112 1427 27031 32409 45529)	ENST00000203407.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(1207-1209)cTa>cAa		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)						89	80	83					3																	48637920		2203	4300	6503	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48637920A>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.1208T>A	3.37:g.48637920A>T	ENSP00000203407:p.Leu403Gln		Somatic					p.L403Q	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)	10	1624	-			403					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.1208T>A	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568630	0.86439	.	.	ENSG00000010256	ENST00000203407	T	0.35789	1.29	5.91	5.91	0.95273	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.69251	0.3090	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	T	0.76699	-0.2863	10	0.56958	D	0.05	-18.3911	16.3426	0.83092	1.0:0.0:0.0:0.0	.	288;403	B4DUL5;P31930	.;QCR1_HUMAN	Q	403	ENSP00000203407:L403Q	ENSP00000203407:L403Q	L	-	2	0	UQCRC1	48612924	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	9.101000	0.94219	2.263000	0.75096	0.379000	0.24179	CTA		0.567	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		20	1	0	0	0	1	0	20	1					T	48637920	A	T	48637920	3	4	8	1	0	0	0	0	1	0	0	0	17034	420	15	4	250	4	UQCRC1	3	48637920	Missense_Mutation	SNP	A	TCGA-N5-A4RO-01A-11D-A28R-08	15045046	48637920	149384510	15	519										
B4GALT4	8702	broad.mit.edu	37	chr3	118931403	118931403	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	aaaagacccagggtcatgcaCcaaaccagaaatccactgtg	8	12	1	2	rs72655939	byFrequency	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:118931403C>G	ENST00000483209.1	-	8	1669	c.1028G>C	c.(1027-1029)gGt>gCt	p.G343A	B4GALT4_ENST00000393765.2_Missense_Mutation_p.G343A|B4GALT4_ENST00000467604.1_3'UTR|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Missense_Mutation_p.G343A			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	343					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)	GGGTCATGCACCAAACCAGAA	0.383																																						ENST00000483209.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14						c.(1027-1029)gGt>gCt		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	N-Acetyl-D-glucosamine(DB00141)						94	86	89					3																	118931403		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.chr3:118931403C>G	AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"Beta 4-glycosyltransferases"	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.1028G>C	3.37:g.118931403C>G	ENSP00000420161:p.Gly343Ala		Somatic				B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Missense_Mutation_p.G343A|B4GALT4_ENST00000393765.2_Missense_Mutation_p.G343A|B4GALT4_ENST00000467604.1_3'UTR	p.G343A			WXS	Illumina GAIIx	Phase_I	O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	8	1669	-			343					Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	ENST00000483209.1	37	c.1028G>C	CCDS2986.1	.	.	.	.	.	.	.	.	.	.	C	8.129	0.782758	0.16189	.	.	ENSG00000121578	ENST00000483209;ENST00000359213;ENST00000393765	T;T;T	0.49432	0.78;0.78;0.78	5.38	-4.46	0.03536	.	0.571932	0.17622	N	0.167693	T	0.23133	0.0559	N	0.12569	0.235	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09640	-1.0665	10	0.40728	T	0.16	0.054	9.3288	0.38010	0.0:0.2717:0.4557:0.2726	.	343	O60513	B4GT4_HUMAN	A	343	ENSP00000420161:G343A;ENSP00000352144:G343A;ENSP00000377360:G343A	ENSP00000352144:G343A	G	-	2	0	B4GALT4	120414093	0.000000	0.05858	0.006000	0.13384	0.606000	0.37113	-0.797000	0.04570	-0.712000	0.04988	0.655000	0.94253	GGT		0.383	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		20	55	0	0	0	1	0	20	55					G	118931403	C	G	118931403	3	3	8	1	0	0	0	0	1	0	0	0	1273	507	18	5	10	5	B4GALT4	3	118931403	Missense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08	70293483	118931403	79091027	16	520										
PIK3CA	5290	broad.mit.edu	37	chr3	178952119	178952119	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	acaacaaaaatggattggatCttccacacaattaaacagca	5	9	1	0			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:178952119C>G	ENST00000263967.3	+	21	3331	c.3174C>G	c.(3172-3174)atC>atG	p.I1058M	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1058	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)			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)	TGGATTGGATCTTCCACACAA	0.398		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.(3172-3174)atC>atG		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							95	85	88					3																	178952119		1908	4136	6044	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.chr3:178952119C>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3174C>G	3.37:g.178952119C>G	ENSP00000263967:p.Ile1058Met	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.I1058M	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	3331	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1058			PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3174C>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	0.101	-1.152569	0.01700	.	.	ENSG00000121879	ENST00000263967	D	0.81908	-1.55	6.08	5.04	0.67666	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.000000	0.85682	D	0.000000	T	0.65312	0.2679	N	0.03608	-0.345	0.58432	D	0.999999	B	0.24533	0.105	B	0.18871	0.023	T	0.61964	-0.6954	10	0.24483	T	0.36	-10.4895	16.2916	0.82756	0.0:0.9271:0.0:0.0729	.	1058	P42336	PK3CA_HUMAN	M	1058	ENSP00000263967:I1058M	ENSP00000263967:I1058M	I	+	3	3	PIK3CA	180434813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.897000	0.39799	2.894000	0.99253	0.591000	0.81541	ATC		0.398	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			32	47	0	0	0	1	0	32	47					G	178952119	C	G	178952119	3	3	8	1	0	0	0	0	1	0	0	0	11922	903	32	2	3252	2	PIK3CA	3	178952119	Missense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08	60020716	178952119	19070311	17	521										
NDUFB5	4711	broad.mit.edu	37	chr3	179332847	179332847	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	aggcgttttttgaagttattGgtaagtttaaattttttgtt	9	1	0	1			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:179332847G>A	ENST00000259037.3	+	2	327	c.213G>A	c.(211-213)ttG>ttA	p.L71L	NDUFB5_ENST00000473500.1_Intron|NDUFB5_ENST00000472629.1_Intron|snoU13_ENST00000459278.1_RNA|NDUFB5_ENST00000493866.1_Intron	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	71					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)			TGAAGTTATTGGTAAGTTTAA	0.318																																						ENST00000259037.3																			0				endometrium(1)|lung(6)|skin(1)	8						c.e2+1		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	NADH(DB00157)						78	77	77					3																	179332847		2203	4300	6503	SO:0001630	splice_region_variant	4711				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr3:179332847G>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.213+1G>A	3.37:g.179332847G>A			Somatic				NDUFB5_ENST00000472629.1_Intron|NDUFB5_ENST00000493866.1_Intron|NDUFB5_ENST00000473500.1_Intron	p.L71_splice	NM_002492.3	NP_002483.1	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)		2	327	+	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		71					Q561V6	Splice_Site	SNP	ENST00000259037.3	37	c.213_splice	CCDS3234.1	.	.	.	.	.	.	.	.	.	.	G	3.704	-0.060931	0.07317	.	.	ENSG00000136521	ENST00000482604	.	.	.	4.49	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.3731	12.0099	0.53280	0.0871:0.0:0.9128:0.0	.	.	.	.	X	68	.	.	W	+	2	0	NDUFB5	180815541	1.000000	0.71417	0.969000	0.41365	0.004000	0.04260	4.087000	0.57671	1.256000	0.44068	-0.262000	0.10625	TGG		0.318	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492	Silent	15	39	0	0	0	1	0	15	39					A	179332847	G	A	179332847	5	1	8	1	0	0	0	0	0	0	1	0	10293	1362	47	3	219	3	NDUFB5	3	179332847	Splice_Site	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08	380728	179332847	18689583	18	522										
CTBP1	1487	broad.mit.edu	37	chr4	1232004	1232004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	tcctgcgtggactgcgcgtcGcagaaggccacagtggccac	14	14	0	1			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr4:1232004G>A	ENST00000290921.6	-	2	343	c.162C>T	c.(160-162)tgC>tgT	p.C54C	CTBP1_ENST00000510568.1_Silent_p.C43C|CTBP1_ENST00000382952.3_Silent_p.C43C|CTBP1_ENST00000515690.1_5'UTR	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	54	Interaction with GLIS2 1. {ECO:0000250}.				Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|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)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		ACTGCGCGTCGCAGAAGGCCA	0.672																																						ENST00000510568.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8						c.(127-129)tgC>tgT		C-terminal binding protein 1							69	66	67					4																	1232004		2203	4299	6502	SO:0001819	synonymous_variant	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1232004G>A	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"brefeldin A-ribosylated substrate"	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.162C>T	4.37:g.1232004G>A			Somatic				CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000290921.6_Silent_p.C54C|CTBP1_ENST00000382952.3_Silent_p.C43C	p.C43C			WXS	Illumina GAIIx	Phase_I	Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	2	720	-			54			Interaction with GLIS2 1 (By similarity).		Q4W5N3|Q7Z2Q5	Silent	SNP	ENST00000290921.6	37	c.129C>T	CCDS3348.1																																																																																				0.672	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		4	125	0	0	0	1	0	4	125					A	1232004	G	A	1232004	2	1	8	1	0	0	0	0	0	0	0	1	3999	1079	38	1		1	CTBP1	4	1232004	Silent	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08		1232004	189922272	19	523										
FBXW7	55294	broad.mit.edu	37	chr4	153249510	153249510	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	tcatttgtgatgaccatactCcacctgtatgtcccactaat	5	12	1	2			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr4:153249510C>A	ENST00000281708.4	-	9	2497	c.1268G>T	c.(1267-1269)gGa>gTa	p.G423V	FBXW7_ENST00000603548.1_Missense_Mutation_p.G423V|FBXW7_ENST00000393956.3_Missense_Mutation_p.G247V|FBXW7_ENST00000603841.1_Missense_Mutation_p.G423V|FBXW7_ENST00000296555.5_Missense_Mutation_p.G305V|FBXW7_ENST00000263981.5_Missense_Mutation_p.G343V	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	423					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.G423V(7)|p.G343V(2)|p.G305V(2)|p.G184V(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGACCATACTCCACCTGTATG	0.373			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		14	Substitution - Missense(13)|Unknown(1)	p.G423V(7)|p.G343V(2)|p.G305V(2)|p.G184V(2)|p.?(1)	endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1267-1269)gGa>gTa		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							285	249	261					4																	153249510		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249510C>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1268G>T	4.37:g.153249510C>A	ENSP00000281708:p.Gly423Val		Somatic				FBXW7_ENST00000393956.3_Missense_Mutation_p.G247V|FBXW7_ENST00000603841.1_Missense_Mutation_p.G423V|FBXW7_ENST00000263981.5_Missense_Mutation_p.G343V|FBXW7_ENST00000296555.5_Missense_Mutation_p.G305V|FBXW7_ENST00000603548.1_Missense_Mutation_p.G423V	p.G423V	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			9	2497	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	423					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1268G>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665261	0.88251	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.9	5.9	0.94986	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	0.73737	0.3625	L	0.52266	1.64	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	0.74022	-0.3798	10	0.87932	D	0	-19.5226	20.2787	0.98501	0.0:1.0:0.0:0.0	.	247;423;305;343	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	V	423;305;343;247	ENSP00000281708:G423V;ENSP00000296555:G305V;ENSP00000263981:G343V;ENSP00000377528:G247V	ENSP00000263981:G343V	G	-	2	0	FBXW7	153468960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.798000	0.96311	0.650000	0.86243	GGA		0.373	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			47	61	1	0	7.88023e-25	1	8.80732e-25	47	61					A	153249510	C	A	153249510	3	1	8	1	0	0	0	0	1	0	0	0	5777	855	30	2	871	2	FBXW7	4	153249510	Missense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08	152017506	153249510	37904766	20	524										
CYFIP2	26999	broad.mit.edu	37	chr5	156712414	156712414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	aagatgccctgtccaacgtgGacctgcttgaagagcttccc	10	13	0	3			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr5:156712414G>A	ENST00000521420.1	+	2	134	c.43G>A	c.(43-45)Gac>Aac	p.D15N	CYFIP2_ENST00000347377.6_Missense_Mutation_p.D15N|CYFIP2_ENST00000318218.6_Missense_Mutation_p.D15N|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.D15N|CYFIP2_ENST00000377576.3_Missense_Mutation_p.D15N|CYFIP2_ENST00000522463.1_Missense_Mutation_p.D15N					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)			GTCCAACGTGGACCTGCTTGA	0.537																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(43-45)Gac>Aac		cytoplasmic FMR1 interacting protein 2							47	54	51					5																	156712414		2167	4276	6443	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156712414G>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.43G>A	5.37:g.156712414G>A	ENSP00000430904:p.Asp15Asn		Somatic				CYFIP2_ENST00000541131.1_Missense_Mutation_p.D15N|CYFIP2_ENST00000522463.1_Missense_Mutation_p.D15N|CYFIP2_ENST00000521420.1_Missense_Mutation_p.D15N|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.D15N|CYFIP2_ENST00000318218.6_Missense_Mutation_p.D15N	p.D15N	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)		2	474	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	15						Missense_Mutation	SNP	ENST00000521420.1	37	c.43G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.619661	0.96660	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131	T;T;T;T;T;T	0.41758	0.99;2.12;2.13;0.99;0.99;1.83	5.61	5.61	0.85477	.	0.041485	0.85682	D	0.000000	T	0.60157	0.2247	L	0.57536	1.79	0.80722	D	1	P;D;P;B;P	0.55800	0.805;0.973;0.791;0.439;0.924	P;P;B;B;P	0.59424	0.857;0.663;0.198;0.209;0.857	T	0.58685	-0.7593	10	0.56958	D	0.05	-42.2612	20.0018	0.97417	0.0:0.0:1.0:0.0	.	15;15;15;15;15	E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;CYFP2_HUMAN	N	15	ENSP00000325817:D15N;ENSP00000428009:D15N;ENSP00000430904:D15N;ENSP00000313567:D15N;ENSP00000366799:D15N;ENSP00000444645:D15N	ENSP00000325817:D15N	D	+	1	0	CYFIP2	156644992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.289000	0.96061	2.793000	0.96121	0.655000	0.94253	GAC		0.537	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		6	4	0	0	0	1	0	6	4					A	156712414	G	A	156712414	3	1	8	1	0	0	0	0	1	0	0	0	4140	1174	41	3	45	3	CYFIP2	5	156712414	Missense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08		156712414	24202846	21	525										
RGS14	10636	broad.mit.edu	37	chr5	176793982	176793982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	accgtcaggcctggcttggcGaggaggtgctggccgagccc	17	13	1	0			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr5:176793982G>A	ENST00000408923.3	+	5	618	c.430G>A	c.(430-432)Gag>Aag	p.E144K		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	144	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGCTTGGCGAGGAGGTGCT	0.637																																					NSCLC(47;353 1896 28036)	ENST00000408923.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12						c.(430-432)Gag>Aag		regulator of G-protein signaling 14							31	40	37					5																	176793982		1959	4143	6102	SO:0001583	missense	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176793982G>A	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"Regulators of G-protein signaling"	9996	protein-coding gene	gene with protein product		602513	"regulator of G-protein signalling 14"				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.430G>A	5.37:g.176793982G>A	ENSP00000386229:p.Glu144Lys		Somatic					p.E144K	NM_006480.4	NP_006471.2	WXS	Illumina GAIIx	Phase_I	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	618	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	144			RGS.		O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	ENST00000408923.3	37	c.430G>A	CCDS43405.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285495	0.95517	.	.	ENSG00000169220	ENST00000408923	T	0.02067	4.47	4.26	4.26	0.50523	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.061281	0.64402	D	0.000005	T	0.06416	0.0165	L	0.35644	1.08	0.58432	D	0.999999	D	0.61080	0.989	D	0.68483	0.958	T	0.53809	-0.8386	10	0.30078	T	0.28	-27.5533	13.4284	0.61039	0.0:0.1587:0.8413:0.0	.	144	O43566	RGS14_HUMAN	K	144	ENSP00000386229:E144K	ENSP00000386229:E144K	E	+	1	0	RGS14	176726588	1.000000	0.71417	0.993000	0.49108	0.951000	0.60555	5.198000	0.65147	2.226000	0.72624	0.313000	0.20887	GAG		0.637	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		34	59	0	0	0	1	0	34	59					A	176793982	G	A	176793982	3	1	8	1	0	0	0	0	1	0	0	0	13312	1059	37	1	448	1	RGS14	5	176793982	Missense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08	20081568	176793982	4121278	22	526										
HIST1H3F	8968	broad.mit.edu	37	chr6	26250542	26250542	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	gagccccaccaggtaagcctCgcaggcctcctgcagcgcca	11	18	0	0			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr6:26250542C>G	ENST00000446824.2	-	1	293	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	98					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.E98K(1)		lung(6)|urinary_tract(1)	7						AGGTAAGCCTCGCAGGCCTCC	0.602											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000446824.2																			1	Substitution - Missense(1)	p.E98K(1)	lung(1)	lung(6)|urinary_tract(1)	7						c.(292-294)Gag>Cag		histone cluster 1, H3f							102	101	101					6																	26250542		2203	4300	6503	SO:0001583	missense	8968				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26250542C>G	Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"Histones / Replication-dependent"	4773	protein-coding gene	gene with protein product		602816	"H3 histone family, member I", "histone 1, H3f"	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.292G>C	6.37:g.26250542C>G	ENSP00000444823:p.Glu98Gln		Somatic	OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785		p.E98Q	NM_021018.2	NP_066298.1	WXS	Illumina GAIIx	Phase_I	P68431	H31_HUMAN			1	293	-			98					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000446824.2	37	c.292G>C	CCDS4600.1	.	.	.	.	.	.	.	.	.	.	.	18.58	3.654187	0.67472	.	.	ENSG00000256316	ENST00000446824	T	0.78481	-1.18	4.82	4.82	0.62117	.	.	.	.	.	D	0.84884	0.5571	.	.	.	0.43740	D	0.996239	.	.	.	.	.	.	D	0.86732	0.1949	6	0.87932	D	0	.	17.7536	0.88442	0.0:1.0:0.0:0.0	.	.	.	.	Q	98	ENSP00000444823:E98Q	ENSP00000444823:E98Q	E	-	1	0	HIST1H3F	26358521	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	7.722000	0.84778	2.602000	0.87976	0.561000	0.74099	GAG		0.602	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040098.1	NM_021018		37	18	0	0	0	1	0	37	18					G	26250542	C	G	26250542	3	3	8	1	0	0	0	0	1	0	0	0	7169	893	31	2	122	2	HIST1H3F	6	26250542	Missense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08		26250542	144864525	23	527										
DST	667	broad.mit.edu	37	chr6	56357765	56357765	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	atttgaaataagactgtgtcCaagatgagacttggccgaga	11	6	0	5			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr6:56357765C>A	ENST00000361203.3	-	79	19564	c.19557G>T	c.(19555-19557)ttG>ttT	p.L6519F	DST_ENST00000340834.4_5'Flank|DST_ENST00000446842.2_Missense_Mutation_p.L6304F|DST_ENST00000244364.6_Missense_Mutation_p.L4216F|DST_ENST00000370788.2_Missense_Mutation_p.L4433F|DST_ENST00000370754.5_Missense_Mutation_p.L6808F|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.L4542F|DST_ENST00000370769.4_Missense_Mutation_p.L6630F			Q03001	DYST_HUMAN	dystonin	6519					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.L4216F(1)|p.L6630F(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)			AGACTGTGTCCAAGATGAGAC	0.398																																						ENST00000370754.5																			2	Substitution - Missense(2)	p.L4216F(1)|p.L6630F(1)	lung(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.(20422-20424)ttG>ttT		dystonin							90	88	88					6																	56357765		1900	4141	6041	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.chr6:56357765C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19557G>T	6.37:g.56357765C>A	ENSP00000354508:p.Leu6519Phe		Somatic				DST_ENST00000370788.2_Missense_Mutation_p.L4433F|DST_ENST00000446842.2_Missense_Mutation_p.L6304F|DST_ENST00000361203.3_Missense_Mutation_p.L6519F|DST_ENST00000244364.6_Missense_Mutation_p.L4216F|DST_ENST00000370769.4_Missense_Mutation_p.L6630F|DST_ENST00000421834.2_Missense_Mutation_p.L4542F|DST_ENST00000312431.6_3'UTR	p.L6808F			WXS	Illumina GAIIx	Phase_I	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		84	20423	-	Lung NSC(77;0.103)		6628					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.20424G>T		.	.	.	.	.	.	.	.	.	.	C	12.95	2.090762	0.36855	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23;0.23	5.3	2.17	0.27698	.	0.000000	0.40554	N	0.001073	T	0.61035	0.2315	M	0.78049	2.395	0.33857	D	0.633378	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.984	T	0.62695	-0.6800	9	0.56958	D	0.05	.	6.7272	0.23363	0.0:0.6121:0.1435:0.2444	.	4542;6630;6808;6628;4216	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	F	4216;6808;6630;4542;6304;4433;6519	ENSP00000244364:L4216F;ENSP00000359790:L6808F;ENSP00000359805:L6630F;ENSP00000400883:L4542F;ENSP00000393645:L6304F;ENSP00000359824:L4433F;ENSP00000354508:L6519F	ENSP00000244364:L4216F	L	-	3	2	DST	56465724	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	1.499000	0.35671	0.249000	0.21456	0.484000	0.47621	TTG		0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		5	12	1	0	5.9392e-07	1	6.3396e-07	5	12					A	56357765	C	A	56357765	3	1	8	1	0	0	0	0	1	0	0	0	4785	593	21	5	2947	5	DST	6	56357765	Missense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08	30107223	56357765	114757302	24	528										
PHF3	23469	broad.mit.edu	37	chr6	64404543	64404543	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	aatggcagctagctcctcttCgtaagatgggacaaccagtt	10	10	1	1			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr6:64404543C>G	ENST00000262043.3	+	6	2909	c.2569C>G	c.(2569-2571)Cgt>Ggt	p.R857G	PHF3_ENST00000393387.1_Missense_Mutation_p.R857G			Q92576	PHF3_HUMAN	PHD finger protein 3	857					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)			AGCTCCTCTTCGTAAGATGGG	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.(2569-2571)Cgt>Ggt		PHD finger protein 3							102	115	111					6																	64404543		2202	4300	6502	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64404543C>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.2569C>G	6.37:g.64404543C>G	ENSP00000262043:p.Arg857Gly		Somatic				PHF3_ENST00000393387.1_Missense_Mutation_p.R857G	p.R857G			WXS	Illumina GAIIx	Phase_I	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		6	2909	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		857					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.2569C>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252843	0.59212	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000515594;ENST00000262043;ENST00000494284;ENST00000393387	T;T;T;T;T;T	0.49432	1.93;1.48;0.78;2.05;1.35;2.05	5.48	5.48	0.80851	.	0.284922	0.19064	N	0.123682	T	0.38214	0.1032	M	0.65975	2.015	0.40751	D	0.982919	P	0.39601	0.68	B	0.37091	0.241	T	0.44065	-0.9352	10	0.52906	T	0.07	-4.4252	16.8751	0.86050	0.0:1.0:0.0:0.0	.	857	Q92576	PHF3_HUMAN	G	671;769;126;857;810;857	ENSP00000424694:R671G;ENSP00000425227:R769G;ENSP00000425338:R126G;ENSP00000262043:R857G;ENSP00000424078:R810G;ENSP00000377048:R857G	ENSP00000262043:R857G	R	+	1	0	PHF3	64462502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.225000	0.51246	2.732000	0.93576	0.555000	0.69702	CGT		0.383	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			4	153	0	0	0	1	0	4	153					G	64404543	C	G	64404543	3	3	8	1	0	0	0	0	1	0	0	0	11845	884	31	2	2587	2	PHF3	6	64404543	Missense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08	8046778	64404543	106710524	25	529										
THSD7A	221981	broad.mit.edu	37	chr7	11871427	11871427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	gcgcctccgcctcgccctgcGccgcagccctgccggcgccc	12	24	0	0			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:11871427G>A	ENST00000423059.4	-	1	397	c.146C>T	c.(145-147)gCg>gTg	p.A49V		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	49					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A49V(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)		CTCGCCCTGCGCCGCAGCCCT	0.706										HNSCC(18;0.044)																												ENST00000423059.3																			1	Substitution - Missense(1)	p.A49V(1)	upper_aerodigestive_tract(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.(145-147)gCg>gTg		thrombospondin, type I, domain containing 7A							11	13	13					7																	11871427		1777	3911	5688	SO:0001583	missense	221981					integral to membrane		g.chr7:11871427G>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.146C>T	7.37:g.11871427G>A	ENSP00000406482:p.Ala49Val	HNSCC(18;0.044)	Somatic					p.A49V	NM_015204.2	NP_056019.1	WXS	Illumina GAIIx	Phase_I	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	1	397	-			49						Missense_Mutation	SNP	ENST00000423059.4	37	c.146C>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223299	0.39300	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59772	0.24	4.79	3.89	0.44902	.	0.382675	0.14614	U	0.308806	T	0.37839	0.1018	L	0.27053	0.805	0.26837	N	0.968453	P	0.40083	0.702	B	0.29663	0.105	T	0.11060	-1.0603	10	0.09843	T	0.71	.	15.0094	0.71539	0.0:0.1431:0.8569:0.0	.	49	Q9UPZ6	THS7A_HUMAN	V	49	ENSP00000406482:A49V	ENSP00000262042:A49V	A	-	2	0	THSD7A	11837952	1.000000	0.71417	0.860000	0.33809	0.038000	0.13279	6.322000	0.72886	1.197000	0.43143	0.460000	0.39030	GCG		0.706	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		10	9	0	0	0	1	0	10	9					A	11871427	G	A	11871427	3	1	8	1	0	0	0	0	1	0	0	0	15894	1087	38	1	4935	1	THSD7A	7	11871427	Missense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08		11871427	147267236	26	530										
ZP3	7784	broad.mit.edu	37	chr7	76054351	76054351	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	ctgagctgtgctacccccaaCccctctggctcttgcagggt	10	16	2	1			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:76054351C>A	ENST00000394857.3	+	1	128	c.70C>A	c.(70-72)Ccc>Acc	p.P24T	ZP3_ENST00000336517.4_Intron	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	24					binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CTACCCCCAACCCCTCTGGCT	0.602																																						ENST00000394857.3																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(70-72)Ccc>Acc		zona pellucida glycoprotein 3 (sperm receptor)							12	12	12					7																	76054351		692	1589	2281	SO:0001583	missense	7784				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding	g.chr7:76054351C>A	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"Zona pellucida glycoproteins"	13189	protein-coding gene	gene with protein product		182889	"zona pellucida glycoprotein 3A (sperm receptor)"	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.70C>A	7.37:g.76054351C>A	ENSP00000378326:p.Pro24Thr		Somatic				ZP3_ENST00000336517.4_Intron	p.P24T	NM_001110354.1	NP_001103824.1	WXS	Illumina GAIIx	Phase_I	P21754	ZP3_HUMAN			1	128	+			24					Q06633|Q29RW0	Missense_Mutation	SNP	ENST00000394857.3	37	c.70C>A	CCDS47618.1	.	.	.	.	.	.	.	.	.	.	C	7.162	0.585892	0.13749	.	.	ENSG00000188372	ENST00000394857;ENST00000544121	T	0.11930	2.73	5.1	-0.237	0.13061	.	.	.	.	.	T	0.06690	0.0171	N	0.20986	0.625	0.20196	N	0.999926	B	0.17038	0.02	B	0.12156	0.007	T	0.43245	-0.9403	9	0.16896	T	0.51	0.4673	2.0179	0.03502	0.2796:0.4333:0.1286:0.1585	.	24	P21754	ZP3_HUMAN	T	24	ENSP00000378326:P24T	ENSP00000378326:P24T	P	+	1	0	ZP3	75892287	0.000000	0.05858	0.006000	0.13384	0.136000	0.21042	-0.111000	0.10807	-0.384000	0.07845	0.467000	0.42956	CCC		0.602	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			4	14	1	0	0.00024832	1	0.000256417	4	14					A	76054351	C	A	76054351	3	1	8	1	0	0	0	0	1	0	0	0	18232	507	18	5	72	5	ZP3	7	76054351	Missense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08	64182924	76054351	83084312	27	531										
MUC17	140453	broad.mit.edu	37	chr7	100683707	100683707	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	tgccggtggccagttctgagGctagcaccctttcaagaact	11	12	2	2			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:100683707G>T	ENST00000306151.4	+	3	9074	c.9010G>T	c.(9010-9012)Gct>Tct	p.A3004S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3004	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCTGAGGCTAGCACCCT	0.517																																						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.(9010-9012)Gct>Tct		mucin 17, cell surface associated							259	271	267					7																	100683707		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683707G>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.9010G>T	7.37:g.100683707G>T	ENSP00000302716:p.Ala3004Ser		Somatic					p.A3004S	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	9074	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3004			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9010G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	5.126	0.208893	0.09757	.	.	ENSG00000169876	ENST00000306151	T	0.01933	4.55	0.321	-0.642	0.11486	.	.	.	.	.	T	0.02688	0.0081	L	0.32530	0.975	0.09310	N	1	P	0.52463	0.953	P	0.53988	0.739	T	0.24083	-1.0170	9	0.07325	T	0.83	.	4.0938	0.09982	0.0:1.0E-4:0.3575:0.6425	.	3004	Q685J3	MUC17_HUMAN	S	3004	ENSP00000302716:A3004S	ENSP00000302716:A3004S	A	+	1	0	MUC17	100470427	0.000000	0.05858	0.007000	0.13788	0.012000	0.07955	-0.560000	0.05964	-0.823000	0.04301	0.121000	0.15741	GCT		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		173	478	1	0	1.34047e-99	1	1.55298e-99	173	478					T	100683707	G	T	100683707	3	4	8	1	0	0	0	0	1	0	0	0	9983	1203	42	5	9020	5	MUC17	7	100683707	Missense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08	24629356	100683707	58454956	28	532										
FSCN3	29999	broad.mit.edu	37	chr7	127235409	127235409	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	atgagacacaggccgtggtgCgactaaagagcgtgcagggc	16	9	0	2			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:127235409C>T	ENST00000265825.5	+	2	412	c.193C>T	c.(193-195)Cga>Tga	p.R65*	FSCN3_ENST00000478328.1_3'UTR|FSCN3_ENST00000420086.2_5'UTR|GCC1_ENST00000497650.1_5'Flank	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	65						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCGTGGTGCGACTAAAGAG	0.562																																						ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(193-195)Cga>Tga		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)							118	103	108					7																	127235409		2203	4300	6503	SO:0001587	stop_gained	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235409C>T		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"Fascins"	3961	protein-coding gene	gene with protein product		615800	"fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)", "fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.193C>T	7.37:g.127235409C>T	ENSP00000265825:p.Arg65*		Somatic				FSCN3_ENST00000420086.2_5'UTR|FSCN3_ENST00000478328.1_3'UTR	p.R65*	NM_020369.2	NP_065102.1	WXS	Illumina GAIIx	Phase_I	Q9NQT6	FSCN3_HUMAN			2	412	+			65					A4D0Z2|A6NLL7|B2RA62|B4DU68	Nonsense_Mutation	SNP	ENST00000265825.5	37	c.193C>T	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705814	0.89018	.	.	ENSG00000106328	ENST00000265825	.	.	.	5.59	4.69	0.59074	.	0.000000	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-10.8018	11.9701	0.53060	0.1736:0.8264:0.0:0.0	.	.	.	.	X	65	.	ENSP00000265825:R65X	R	+	1	2	FSCN3	127022645	0.932000	0.31603	0.863000	0.33907	0.355000	0.29361	1.800000	0.38833	1.457000	0.47850	0.655000	0.94253	CGA		0.562	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		27	75	0	0	0	1	0	27	75					T	127235409	C	T	127235409	4	4	8	1	0	0	0	0	0	1	0	0	6077	760	27	1	199	1	FSCN3	7	127235409	Nonsense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08	26551702	127235409	31903254	29	533										
MGAM	8972	broad.mit.edu	37	chr7	141800609	141800609	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	ctgctcactgcagccgccagAaattcatgggcttcaaaatt	8	12	3	1			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:141800609A>G	ENST00000549489.2	+	45	5289	c.5194A>G	c.(5194-5196)Aaa>Gaa	p.K1732E	MGAM_ENST00000475668.2_Missense_Mutation_p.K2628E	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1732	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)	CAGCCGCCAGAAATTCATGGG	0.483																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(7882-7884)Aaa>Gaa		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						64	60	61					7																	141800609		1902	4118	6020	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.chr7:141800609A>G	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5194A>G	7.37:g.141800609A>G	ENSP00000447378:p.Lys1732Glu		Somatic				MGAM_ENST00000549489.2_Missense_Mutation_p.K1732E	p.K2628E			WXS	Illumina GAIIx	Phase_I	O43451	MGA_HUMAN			68	7936	+	Melanoma(164;0.0272)		1732					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.7882A>G	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.290585	0.59976	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.89196	-2.48	4.83	3.64	0.41730	.	.	.	.	.	D	0.83977	0.5371	L	0.41492	1.28	0.27859	N	0.940478	B	0.20164	0.042	B	0.14023	0.01	T	0.76019	-0.3112	9	0.59425	D	0.04	.	10.7629	0.46274	0.8403:0.1597:0.0:0.0	.	1732	O43451	MGA_HUMAN	E	1732;2629	ENSP00000447378:K1732E	ENSP00000373973:K1732E	K	+	1	0	MGAM	141447078	1.000000	0.71417	0.960000	0.40013	0.939000	0.58152	6.444000	0.73452	0.834000	0.34852	0.523000	0.50628	AAA		0.483	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			5	6	0	0	0	1	0	5	6					G	141800609	A	G	141800609	3	3	8	1	0	0	0	0	1	0	0	0	9550	247	9	4	5368	4	MGAM	7	141800609	Missense_Mutation	SNP	A	TCGA-N5-A4RO-01A-11D-A28R-08	14565200	141800609	17338054	30	534										
ZNF775	285971	broad.mit.edu	37	chr7	150094611	150094611	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	actgtggccgcggcttccgcCagaagcagcacctgctcaag	12	15	1	1			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:150094611C>T	ENST00000329630.5	+	3	1149	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGCTTCCGCCAGAAGCAGCA	0.741																																						ENST00000329630.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11						c.(1042-1044)Cag>Tag		zinc finger protein 775							4	5	5					7																	150094611		1889	3810	5699	SO:0001587	stop_gained	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150094611C>T	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"Zinc fingers, C2H2-type"	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1042C>T	7.37:g.150094611C>T	ENSP00000330838:p.Gln348*		Somatic					p.Q348*	NM_173680.3	NP_775951.2	WXS	Illumina GAIIx	Phase_I	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1149	+	Ovarian(565;0.183)|Melanoma(164;0.226)		348					Q8IY24	Nonsense_Mutation	SNP	ENST00000329630.5	37	c.1042C>T	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	C	32	5.133697	0.94517	.	.	ENSG00000196456	ENST00000329630	.	.	.	3.78	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1325	0.59391	0.0:1.0:0.0:0.0	.	.	.	.	X	348	.	.	Q	+	1	0	ZNF775	149725544	0.000000	0.05858	1.000000	0.80357	0.845000	0.48019	-0.496000	0.06436	1.931000	0.55961	0.313000	0.20887	CAG		0.741	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		5	14	0	0	0	1	0	5	14					T	150094611	C	T	150094611	4	4	8	1	0	0	0	0	0	1	0	0	18163	595	21	3	1048	3	ZNF775	7	150094611	Nonsense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08	8294002	150094611	9044052	31	535										
FAM135B	51059	broad.mit.edu	37	chr8	139164617	139164617	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	caactccagagccctgcttcGggcctctgaccaggcgacgg	12	16	1	2			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr8:139164617G>A	ENST00000395297.1	-	13	2271	c.2101C>T	c.(2101-2103)Cga>Tga	p.R701*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	701										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)			GCCCTGCTTCGGGCCTCTGAC	0.557										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.(2101-2103)Cga>Tga		family with sequence similarity 135, member B							46	47	47					8																	139164617		1920	4114	6034	SO:0001587	stop_gained	51059							g.chr8:139164617G>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.2101C>T	8.37:g.139164617G>A	ENSP00000378710:p.Arg701*	HNSCC(54;0.14)	Somatic					p.R701*	NM_015912.3	NP_056996.2	WXS	Illumina GAIIx	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2271	-	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)		701					B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	ENST00000395297.1	37	c.2101C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	43	10.148847	0.99346	.	.	ENSG00000147724	ENST00000395297	.	.	.	5.65	4.76	0.60689	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7347	14.9501	0.71067	0.0:0.0:0.8563:0.1437	.	.	.	.	X	701	.	ENSP00000276737:R701X	R	-	1	2	FAM135B	139233799	0.996000	0.38824	0.195000	0.23364	0.949000	0.60115	3.099000	0.50267	1.358000	0.45922	0.655000	0.94253	CGA		0.557	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		16	30	0	0	0	1	0	16	30					A	139164617	G	A	139164617	4	1	8	1	0	0	0	0	0	1	0	0	5454	1124	39	1	2151	1	FAM135B	8	139164617	Nonsense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08		139164617	7199405	32	536										
ADAMTSL1	92949	broad.mit.edu	37	chr9	18775890	18775890	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	ccctgtatgctggcaacctgTgcaagtaagtatgtcagggc	12	10	1	0			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr9:18775890T>C	ENST00000380548.4	+	18	2886	c.2547T>C	c.(2545-2547)tgT>tgC	p.C849C		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	849	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGGCAACCTGTGCAAGTAAGT	0.557																																						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.(2545-2547)tgT>tgC		ADAMTS-like 1							27	30	29					9																	18775890		1957	4153	6110	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18775890T>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.2547T>C	9.37:g.18775890T>C			Somatic					p.C849C	NM_001040272.5	NP_001035362.3	WXS	Illumina GAIIx	Phase_I	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	18	2886	+			849			TSP type-1 7.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.2547T>C	CCDS47954.1																																																																																				0.557	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			11	12	0	0	0	1	0	11	12					C	18775890	T	C	18775890	2	2	8	1	0	0	0	0	0	0	0	1	274	1702	59	4		4	ADAMTSL1	9	18775890	Silent	SNP	T	TCGA-N5-A4RO-01A-11D-A28R-08		18775890	122437541	33	537										
ZNF462	58499	broad.mit.edu	37	chr9	109765634	109765634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	gatcagctggaacagatgaaGgagaaaatggagagctccag	14	6	1	4			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr9:109765634G>A	ENST00000277225.5	+	11	7405	c.7116G>A	c.(7114-7116)aaG>aaA	p.K2372K	ZNF462_ENST00000542028.1_Silent_p.K329K|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000457913.1_Silent_p.K2432K|ZNF462_ENST00000441147.2_Silent_p.K1278K			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2372					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						AACAGATGAAGGAGAAAATGG	0.473																																						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.(7114-7116)aaG>aaA		zinc finger protein 462							148	130	136					9																	109765634		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109765634G>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.7116G>A	9.37:g.109765634G>A			Somatic				ZNF462_ENST00000441147.2_Silent_p.K1278K|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000457913.1_Silent_p.K2432K|ZNF462_ENST00000542028.1_Silent_p.K329K	p.K2372K			WXS	Illumina GAIIx	Phase_I	Q96JM2	ZN462_HUMAN			11	7405	+			2372					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.7116G>A	CCDS35096.1																																																																																				0.473	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		5	101	0	0	0	1	0	5	101					A	109765634	G	A	109765634	2	1	8	1	0	0	0	0	0	0	0	1	17941	991	35	3		3	ZNF462	9	109765634	Silent	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08	90989744	109765634	31447797	34	538										
SUV39H2	79723	broad.mit.edu	37	chr10	14939228	14939228	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	atcagcttagtcaatgaagcTacctttggttgttcatgcac	8	9	3	1			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr10:14939228T>C	ENST00000354919.6	+	3	561	c.561T>C	c.(559-561)gcT>gcC	p.A187A	SUV39H2_ENST00000313519.5_Silent_p.A127A|SUV39H2_ENST00000378325.3_Intron	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	187					cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TCAATGAAGCTACCTTTGGTT	0.363																																						ENST00000313519.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						c.(379-381)gcT>gcC		suppressor of variegation 3-9 homolog 2 (Drosophila)							133	130	131					10																	14939228		2203	4300	6503	SO:0001819	synonymous_variant	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14939228T>C	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"Chromatin-modifying enzymes / K-methyltransferases"	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.561T>C	10.37:g.14939228T>C			Somatic				SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Silent_p.A187A	p.A127A	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	WXS	Illumina GAIIx	Phase_I	Q9H5I1	SUV92_HUMAN			2	612	+			187					D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Silent	SNP	ENST00000354919.6	37	c.381T>C	CCDS53494.1																																																																																				0.363	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		34	46	0	0	0	1	0	34	46					C	14939228	T	C	14939228	2	2	8	1	0	0	0	0	0	0	0	1	15428	1509	53	4		4	SUV39H2	10	14939228	Silent	SNP	T	TCGA-N5-A4RO-01A-11D-A28R-08		14939228	120595519	35	539										
CUBN	8029	broad.mit.edu	37	chr10	16882377	16882377	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	ttctgcgtgcagtcttgcgaGgtcagctgtaatgcccacac	11	12	3	0			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr10:16882377G>C	ENST00000377833.4	-	62	10049	c.9984C>G	c.(9982-9984)acC>acG	p.T3328T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3328	CUB 25. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTCTTGCGAGGTCAGCTGTA	0.463																																						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.(9982-9984)acC>acG		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						149	128	135					10																	16882377		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.chr10:16882377G>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9984C>G	10.37:g.16882377G>C			Somatic					p.T3328T	NM_001081.3	NP_001072.2	WXS	Illumina GAIIx	Phase_I	O60494	CUBN_HUMAN			62	10049	-			3328			CUB 25.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.9984C>G	CCDS7113.1																																																																																				0.463	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		14	20	0	0	0	1	0	14	20					C	16882377	G	C	16882377	2	2	8	1	0	0	0	0	0	0	0	1	4053	987	35	5		5	CUBN	10	16882377	Silent	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08	1943149	16882377	118652370	36	540										
UBE2L6	9246	broad.mit.edu	37	chr11	57335061	57335061	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	atcctatacgcggttaccttCaccactcgcatgctcgccat	6	16	1	0			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr11:57335061C>A	ENST00000287156.4	-	1	219	c.24G>T	c.(22-24)gtG>gtT	p.V8V	UBE2L6_ENST00000340573.4_Intron	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	8					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)	cytosol (GO:0005829)	ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|ovary(1)	5						CGGTTACCTTCACCACTCGCA	0.662																																						ENST00000287156.4																			0				large_intestine(1)|lung(3)|ovary(1)	5						c.(22-24)gtG>gtT		ubiquitin-conjugating enzyme E2L 6							160	107	125					11																	57335061		2201	4296	6497	SO:0001819	synonymous_variant	9246				negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity	g.chr11:57335061C>A	AF031141, AK093462, BC032491	CCDS7960.1, CCDS7961.1	11q12.1	2008-02-01			ENSG00000156587	ENSG00000156587		"Ubiquitin-conjugating enzymes E2"	12490	protein-coding gene	gene with protein product		603890				9153201	Standard	NM_004223		Approved	UBCH8	uc001nkn.2	O14933	OTTHUMG00000167047	ENST00000287156.4:c.24G>T	11.37:g.57335061C>A			Somatic				UBE2L6_ENST00000340573.4_Intron	p.V8V	NM_004223.4	NP_004214.1	WXS	Illumina GAIIx	Phase_I	O14933	UB2L6_HUMAN			1	219	-			8					A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Silent	SNP	ENST00000287156.4	37	c.24G>T	CCDS7960.1																																																																																				0.662	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392657.1	NM_004223		5	10	1	0	0.0215528	1	0.021782	5	10					A	57335061	C	A	57335061	2	1	8	1	0	0	0	0	0	0	0	1	16879	813	29	2		2	UBE2L6	11	57335061	Silent	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08		57335061	77671455	37	541										
GRIA4	2893	broad.mit.edu	37	chr11	105483157	105483157	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	aacagttttgctgtaacaaaCgcctgtaagtaaaacataag	7	7	0	0			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr11:105483157C>T	ENST00000530497.1	+	2	243	c.243C>T	c.(241-243)aaC>aaT	p.N81N	GRIA4_ENST00000525187.1_Silent_p.N81N|GRIA4_ENST00000527669.1_Silent_p.N81N|GRIA4_ENST00000282499.5_Silent_p.N81N|GRIA4_ENST00000393125.2_Silent_p.N81N|GRIA4_ENST00000428631.2_Silent_p.N81N|GRIA4_ENST00000393127.2_Silent_p.N81N			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	81					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)		CTGTAACAAACGCCTGTAAGT	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.(241-243)aaC>aaT		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						77	73	75					11																	105483157		2202	4299	6501	SO:0001819	synonymous_variant	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105483157C>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.243C>T	11.37:g.105483157C>T			Somatic				GRIA4_ENST00000527669.1_Silent_p.N81N|GRIA4_ENST00000525187.1_Silent_p.N81N|GRIA4_ENST00000282499.5_Silent_p.N81N|GRIA4_ENST00000393125.2_Silent_p.N81N|GRIA4_ENST00000428631.2_Silent_p.N81N|GRIA4_ENST00000530497.1_Silent_p.N81N	p.N81N	NM_001077243.2	NP_001070711.2	WXS	Illumina GAIIx	Phase_I	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	3	689	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	81					Q86XE8	Silent	SNP	ENST00000530497.1	37	c.243C>T	CCDS8333.1																																																																																				0.363	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			11	4	0	0	0	1	0	11	4					T	105483157	C	T	105483157	2	4	8	1	0	0	0	0	0	0	0	1	6779	535	19	1		1	GRIA4	11	105483157	Silent	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08	48148096	105483157	29523359	38	542										
PLEKHG6	55200	broad.mit.edu	37	chr12	6421468	6421468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	gcattgagacttatgggggcCggcatcgagcctctgctcag	14	11	2	1	rs570197517		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr12:6421468C>T	ENST00000396988.3	+	2	306	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R26W|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.R26W|PLEKHG6_ENST00000449001.2_5'Flank|PLEKHG6_ENST00000538208.1_3'UTR	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	26						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TTATGGGGGCCGGCATCGAGC	0.617													C|||	1	0.000199681	0	0	5008	,	,		15725	0		0	False		,,,				2504	0.001					ENST00000396988.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						c.(76-78)Cgg>Tgg		pleckstrin homology domain containing, family G (with RhoGef domain) member 6							66	67	67					12																	6421468		2203	4300	6503	SO:0001583	missense	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6421468C>T	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.76C>T	12.37:g.6421468C>T	ENSP00000380185:p.Arg26Trp		Somatic				PLEKHG6_ENST00000536531.1_Missense_Mutation_p.R26W|PLEKHG6_ENST00000538208.1_3'UTR|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R26W	p.R26W	NM_001144856.1	NP_001138328.1	WXS	Illumina GAIIx	Phase_I	Q3KR16	PKHG6_HUMAN			2	306	+			26					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	c.76C>T	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	C	7.389	0.630385	0.14322	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988	T;T;T	0.50813	0.73;0.73;0.73	5.11	2.05	0.26809	.	0.259371	0.27000	N	0.021432	T	0.55970	0.1954	M	0.69823	2.125	0.19775	N	0.999956	D;D	0.71674	0.998;0.997	P;P	0.56474	0.799;0.635	T	0.47674	-0.9099	10	0.87932	D	0	-3.2593	7.5118	0.27577	0.3408:0.4943:0.1649:0.0	.	26;26	F5H731;Q3KR16	.;PKHG6_HUMAN	W	26	ENSP00000011684:R26W;ENSP00000442836:R26W;ENSP00000380185:R26W	ENSP00000011684:R26W	R	+	1	2	PLEKHG6	6291729	0.002000	0.14202	0.579000	0.28588	0.047000	0.14425	-0.809000	0.04510	0.826000	0.34661	-0.300000	0.09419	CGG		0.617	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		4	78	0	0	0	1	0	4	78					T	6421468	C	T	6421468	3	4	8	1	0	0	0	0	1	0	0	0	12083	643	23	1	78	1	PLEKHG6	12	6421468	Missense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08		6421468	127430427	39	543										
SDR9C7	121214	broad.mit.edu	37	chr12	57327822	57327822	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	tggtgacatccagtagggtgGtctgcagccgataggaggta	16	7	1	1			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr12:57327822G>T	ENST00000293502.1	-	1	367	c.224C>A	c.(223-225)aCc>aAc	p.T75N		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	75					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CAGTAGGGTGGTCTGCAGCCG	0.577																																						ENST00000293502.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(223-225)aCc>aAc		short chain dehydrogenase/reductase family 9C, member 7							78	72	74					12																	57327822		2203	4300	6503	SO:0001583	missense	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57327822G>T	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.224C>A	12.37:g.57327822G>T	ENSP00000293502:p.Thr75Asn		Somatic					p.T75N	NM_148897.2	NP_683695.1	WXS	Illumina GAIIx	Phase_I	Q8NEX9	DR9C7_HUMAN			1	367	-			75					B3KVB4	Missense_Mutation	SNP	ENST00000293502.1	37	c.224C>A	CCDS8926.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786974	0.49997	.	.	ENSG00000170426	ENST00000293502	D	0.88046	-2.33	5.17	3.28	0.37604	NAD(P)-binding domain (1);	0.185365	0.34750	N	0.003712	D	0.93161	0.7822	M	0.88450	2.955	0.45354	D	0.998342	D	0.63880	0.993	D	0.67900	0.954	D	0.93652	0.6974	10	0.66056	D	0.02	.	11.5138	0.50509	0.1553:0.0:0.8447:0.0	.	75	Q8NEX9	DR9C7_HUMAN	N	75	ENSP00000293502:T75N	ENSP00000293502:T75N	T	-	2	0	SDR9C7	55614089	1.000000	0.71417	0.984000	0.44739	0.029000	0.11900	6.120000	0.71596	1.394000	0.46624	0.650000	0.86243	ACC		0.577	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897		56	35	1	0	7.89702e-26	1	8.93116e-26	56	35					T	57327822	G	T	57327822	3	4	8	1	0	0	0	0	1	0	0	0	13989	1261	44	5	733	5	SDR9C7	12	57327822	Missense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08	50906354	57327822	76524073	40	544										
ZIC2	7546	broad.mit.edu	37	chr13	100634935	100634935	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	cccgcggaccgacccctactCggcggcgcaactccacaacc	9	21	0	0			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr13:100634935C>A	ENST00000376335.3	+	1	910	c.617C>A	c.(616-618)tCg>tAg	p.S206*		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	206	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.				brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GACCCCTACTCGGCGGCGCAA	0.662																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(616-618)tCg>tAg		Zic family member 2							16	18	17					13																	100634935		2189	4286	6475	SO:0001587	stop_gained	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100634935C>A	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.617C>A	13.37:g.100634935C>A	ENSP00000365514:p.Ser206*		Somatic					p.S206*	NM_007129.3	NP_009060.2	WXS	Illumina GAIIx	Phase_I	O95409	ZIC2_HUMAN			1	910	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		206			Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).		Q5VYA9|Q9H309	Nonsense_Mutation	SNP	ENST00000376335.3	37	c.617C>A	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	C	40	8.051236	0.98629	.	.	ENSG00000043355	ENST00000376335;ENST00000425702	.	.	.	4.46	4.46	0.54185	.	0.073228	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	17.2443	0.87023	0.0:1.0:0.0:0.0	.	.	.	.	X	206	.	ENSP00000365514:S206X	S	+	2	0	ZIC2	99432936	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.609000	0.82925	2.484000	0.83849	0.462000	0.41574	TCG		0.662	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		11	101	1	0	7.03913e-09	1	7.77578e-09	11	101					A	100634935	C	A	100634935	4	1	8	1	0	0	0	0	0	1	0	0	17694	893	31	2	619	2	ZIC2	13	100634935	Nonsense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08		100634935	14534943	41	545										
OR4N5	390437	broad.mit.edu	37	chr14	20612258	20612258	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	tcgttgtgatggcctttgacCgctacatcgccatctgccgg	11	13	1	2	rs202234247		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr14:20612258C>A	ENST00000333629.1	+	1	364	c.364C>A	c.(364-366)Cgc>Agc	p.R122S	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	122						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(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GGCCTTTGACCGCTACATCGC	0.483													C|||	1	0.000199681	0	0	5008	,	,		22226	0		0.001	False		,,,				2504	0					ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(364-366)Cgc>Agc		olfactory receptor, family 4, subfamily N, member 5							155	152	153					14																	20612258		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612258C>A		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"GPCR / Class A : Olfactory receptors"	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.364C>A	14.37:g.20612258C>A	ENSP00000332110:p.Arg122Ser		Somatic					p.R122S	NM_001004724.1	NP_001004724.1	WXS	Illumina GAIIx	Phase_I	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	364	+	all_cancers(95;0.00108)		122					Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.364C>A	CCDS32031.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.57	3.423673	0.62733	.	.	ENSG00000184394	ENST00000333629	T	0.77620	-1.11	4.0	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000439	D	0.82536	0.5058	H	0.97983	4.12	0.38486	D	0.947846	P	0.39862	0.692	B	0.37267	0.245	D	0.84042	0.0365	10	0.87932	D	0	.	5.1472	0.14991	0.2028:0.6889:0.0:0.1083	.	122	Q8IXE1	OR4N5_HUMAN	S	122	ENSP00000332110:R122S	ENSP00000332110:R122S	R	+	1	0	OR4N5	19682098	0.361000	0.24972	1.000000	0.80357	0.840000	0.47671	0.858000	0.27845	1.022000	0.39626	0.655000	0.94253	CGC		0.483	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			51	78	1	0	8.72198e-27	1	9.98299e-27	51	78					A	20612258	C	A	20612258	3	1	8	1	0	0	0	0	1	0	0	0	11088	652	23	5	366	5	OR4N5	14	20612258	Missense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08		20612258	86737282	42	546										
CDC42BPB	81693	broad.mit.edu	37	chr14	103400064	103400064	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	cggcttcaggtgtcacaggcCggctgctccaggccttcgag	14	14	2	0			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr14:103400064C>T	ENST00000299155.5	+	0	1907				RP11-365N19.2_ENST00000560931.1_RNA|CDC42BPB_ENST00000361246.2_Silent_p.P1707P	NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein						cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCACAGGCCGGCTGCTCCA	0.667																																						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.(5119-5121)ccG>ccA		CDC42 binding protein kinase beta (DMPK-like)							13	16	15					14																	103400064		2189	4278	6467	SO:0001628	intergenic_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.chr14:103400064C>T	AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"amnionless homolog (mouse)"			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7			14.37:g.103400064C>T			Somatic				RP11-365N19.2_ENST00000560931.1_RNA	p.P1707P	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)	37	5409	-		Melanoma(154;0.155)	1707					Q6UX83	Silent	SNP	ENST00000299155.5	37	c.5121G>A	CCDS9977.1																																																																																				0.667	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415704.1			3	4	0	0	0	1	0	3	4					T	103400064	C	T	103400064	1	4	8	0	1	0	0	0	0	0	0	0	3075	639	23	1		1	CDC42BPB	14	103400064	IGR	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08	82787806	103400064	3949476	43	547										
GJD2	57369	broad.mit.edu	37	chr15	35045104	35045104	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	ggattttgatgcagtgcgtaGacctgatgggtgtggagtca	16	5	1	3			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr15:35045104G>T	ENST00000290374.4	-	2	1017	c.541C>A	c.(541-543)Cta>Ata	p.L181I	RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	181					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GCAGTGCGTAGACCTGATGGG	0.493																																						ENST00000290374.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19						c.(541-543)Cta>Ata		gap junction protein, delta 2, 36kDa							156	164	161					15																	35045104		2201	4298	6499	SO:0001583	missense	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35045104G>T	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"Ion channels / Gap junction proteins (connexins)"	19154	protein-coding gene	gene with protein product	"connexin 36"	607058	"gap junction protein, alpha 9, 36kDa"	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.541C>A	15.37:g.35045104G>T	ENSP00000290374:p.Leu181Ile		Somatic					p.L181I	NM_020660.2	NP_065711.1	WXS	Illumina GAIIx	Phase_I	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	1017	-		all_lung(180;9.67e-07)	181					Q2M241|Q9P2R0	Missense_Mutation	SNP	ENST00000290374.4	37	c.541C>A	CCDS10040.1	.	.	.	.	.	.	.	.	.	.	G	9.476	1.096907	0.20552	.	.	ENSG00000159248	ENST00000290374	D	0.98075	-4.7	6.07	1.15	0.20763	.	0.735573	0.11623	N	0.545627	D	0.91188	0.7224	N	0.08118	0	0.32343	N	0.559471	B	0.18610	0.029	B	0.16722	0.016	D	0.86369	0.1722	10	0.19590	T	0.45	.	6.8847	0.24193	0.1545:0.0:0.5896:0.2558	.	181	Q9UKL4	CXD2_HUMAN	I	181	ENSP00000290374:L181I	ENSP00000290374:L181I	L	-	1	2	GJD2	32832396	1.000000	0.71417	0.994000	0.49952	0.874000	0.50279	2.376000	0.44292	0.328000	0.23435	0.650000	0.86243	CTA		0.493	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			4	110	1	0	0.150653	1	0.150653	4	110					T	35045104	G	T	35045104	3	4	8	1	0	0	0	0	1	0	0	0	6425	933	33	2	428	2	GJD2	15	35045104	Missense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08		35045104	67486288	44	548										
RASGRP1	10125	broad.mit.edu	37	chr15	38811527	38811527	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	taccttacaaaataacagatCttcaggcaaagtcctggtga	7	9	2	2			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr15:38811527C>T	ENST00000310803.5	-	4	549	c.372G>A	c.(370-372)aaG>aaA	p.K124K	RASGRP1_ENST00000450598.2_Silent_p.K124K|RASGRP1_ENST00000539159.1_Silent_p.K76K|RASGRP1_ENST00000559830.1_Silent_p.K124K|RASGRP1_ENST00000561180.1_Silent_p.K175K|RASGRP1_ENST00000558164.1_Silent_p.K124K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	124	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AATAACAGATCTTCAGGCAAA	0.413																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(370-372)aaG>aaA		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							112	109	110					15																	38811527		1832	4082	5914	SO:0001819	synonymous_variant	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38811527C>T	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.372G>A	15.37:g.38811527C>T			Somatic				RASGRP1_ENST00000450598.2_Silent_p.K124K|RASGRP1_ENST00000539159.1_Silent_p.K76K|RASGRP1_ENST00000558164.1_Silent_p.K124K|RASGRP1_ENST00000559830.1_Silent_p.K124K|RASGRP1_ENST00000561180.1_Silent_p.K175K	p.K124K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	WXS	Illumina GAIIx	Phase_I	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	4	549	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	124			N-terminal Ras-GEF.		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Silent	SNP	ENST00000310803.5	37	c.372G>A	CCDS45222.1																																																																																				0.413	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		27	32	0	0	0	1	0	27	32					T	38811527	C	T	38811527	2	4	8	1	0	0	0	0	0	0	0	1	13089	912	32	3		3	RASGRP1	15	38811527	Silent	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08	3766423	38811527	63719865	45	549										
MAPK6	5597	broad.mit.edu	37	chr15	52356849	52356849	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	ggtggggaggactgttttttCataaatcagttttgtgaggt	14	3	2	1			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr15:52356849C>G	ENST00000261845.5	+	6	2625	c.1818C>G	c.(1816-1818)ttC>ttG	p.F606L	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	606					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		ACTGTTTTTTCATAAATCAGT	0.403																																						ENST00000261845.5																			0				breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20						c.(1816-1818)ttC>ttG		mitogen-activated protein kinase 6							72	73	73					15																	52356849		2195	4293	6488	SO:0001583	missense	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52356849C>G	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"Mitogen-activated protein kinase cascade / Kinases"	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.1818C>G	15.37:g.52356849C>G	ENSP00000261845:p.Phe606Leu		Somatic				CTD-2184D3.5_ENST00000558607.1_RNA	p.F606L	NM_002748.3	NP_002739.1	WXS	Illumina GAIIx	Phase_I	Q16659	MK06_HUMAN		all cancers(107;0.0028)	6	2625	+			606					B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	37	c.1818C>G	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.306308	0.01353	.	.	ENSG00000069956	ENST00000261845	T	0.64618	-0.11	5.27	-0.113	0.13568	.	0.057833	0.64402	N	0.000001	T	0.25568	0.0622	N	0.03050	-0.425	0.23243	N	0.998058	B	0.02656	0.0	B	0.01281	0.0	T	0.29912	-0.9996	10	0.02654	T	1	-1.4559	5.7418	0.18098	0.0:0.496:0.235:0.269	.	606	Q16659	MK06_HUMAN	L	606	ENSP00000261845:F606L	ENSP00000261845:F606L	F	+	3	2	MAPK6	50144141	1.000000	0.71417	0.990000	0.47175	0.949000	0.60115	1.617000	0.36943	-0.242000	0.09667	-0.287000	0.09952	TTC		0.403	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		25	31	0	0	0	1	0	25	31					G	52356849	C	G	52356849	3	3	8	1	0	0	0	0	1	0	0	0	9290	825	29	2	1836	2	MAPK6	15	52356849	Missense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08	13545322	52356849	50174543	46	550										
WDR72	256764	broad.mit.edu	37	chr15	54003562	54003562	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	agctgatagatgtaactgtgAccatcttctgtccagatgag	10	8	2	5			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr15:54003562A>G	ENST00000396328.1	-	8	1067	c.828T>C	c.(826-828)ggT>ggC	p.G276G	WDR72_ENST00000559418.1_Silent_p.G276G|WDR72_ENST00000360509.5_Silent_p.G276G|WDR72_ENST00000557913.1_Silent_p.G275G	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	276										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)		TGTAACTGTGACCATCTTCTG	0.438																																						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.(826-828)ggT>ggC		WD repeat domain 72							121	111	114					15																	54003562		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:54003562A>G	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.828T>C	15.37:g.54003562A>G			Somatic				WDR72_ENST00000559418.1_Silent_p.G276G|WDR72_ENST00000557913.1_Silent_p.G275G|WDR72_ENST00000360509.5_Silent_p.G276G	p.G276G	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)	8	1067	-			276					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.828T>C	CCDS10151.1																																																																																				0.438	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		5	38	0	0	0	1	0	5	38					G	54003562	A	G	54003562	2	3	8	1	0	0	0	0	0	0	0	1	17337	262	10	4		4	WDR72	15	54003562	Silent	SNP	A	TCGA-N5-A4RO-01A-11D-A28R-08	1646713	54003562	48527830	47	551										
ZNF19	7567	broad.mit.edu	37	chr16	71509657	71509657	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	tttctccccagtgtggattcTctgatgtataacaaactcgg	8	10	2	1			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr16:71509657T>C	ENST00000288177.5	-	6	1048	c.793A>G	c.(793-795)Aga>Gga	p.R265G	ZNF19_ENST00000565100.2_Missense_Mutation_p.R195G|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000564230.1_Missense_Mutation_p.R265G|ZNF19_ENST00000565637.1_Missense_Mutation_p.R223G|ZNF19_ENST00000567225.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		GTGTGGATTCTCTGATGTATA	0.453																																						ENST00000288177.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22						c.(793-795)Aga>Gga		zinc finger protein 19							110	114	113					16																	71509657		2198	4300	6498	SO:0001583	missense	7567					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:71509657T>C	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"Zinc fingers, C2H2-type", "-"	12981	protein-coding gene	gene with protein product		194525	"zinc finger protein 19 (KOX 12)"			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.793A>G	16.37:g.71509657T>C	ENSP00000288177:p.Arg265Gly		Somatic				ZNF19_ENST00000565100.2_Missense_Mutation_p.R195G|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565637.1_Missense_Mutation_p.R223G|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000564230.1_Missense_Mutation_p.R265G	p.R265G	NM_006961.3	NP_008892.2	WXS	Illumina GAIIx	Phase_I	P17023	ZNF19_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)	6	1048	-		Ovarian(137;0.00965)	265					A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	c.793A>G	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.108676	0.56291	.	.	ENSG00000157429	ENST00000288177	T	0.24723	1.84	3.49	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36034	N	0.002821	T	0.42337	0.1198	M	0.63169	1.94	0.31385	N	0.678515	D	0.89917	1.0	D	0.76575	0.988	T	0.46952	-0.9154	10	0.87932	D	0	.	7.7056	0.28648	0.0:0.0:0.4327:0.5673	.	265	P17023	ZNF19_HUMAN	G	265	ENSP00000288177:R265G	ENSP00000288177:R265G	R	-	1	2	ZNF19	70067158	0.000000	0.05858	0.999000	0.59377	0.663000	0.39108	0.046000	0.14035	0.680000	0.31366	0.533000	0.62120	AGA		0.453	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961		31	43	0	0	0	1	0	31	43					C	71509657	T	C	71509657	3	2	8	1	0	0	0	0	1	0	0	0	17770	1559	54	4	587	4	ZNF19	16	71509657	Missense_Mutation	SNP	T	TCGA-N5-A4RO-01A-11D-A28R-08		71509657	18845096	48	552										
SPG7	6687	broad.mit.edu	37	chr16	89620289	89620289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	acctggcatcgggcccatctCcttccctgaggcgcaggagg	13	15	1	1			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr16:89620289C>T	ENST00000268704.2	+	15	2039	c.2024C>T	c.(2023-2025)tCc>tTc	p.S675F		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	675					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GGGCCCATCTCCTTCCCTGAG	0.662																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(2023-2025)tCc>tTc		spastic paraplegia 7 (pure and complicated autosomal recessive)							91	75	80					16																	89620289		2198	4300	6498	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89620289C>T	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.2024C>T	16.37:g.89620289C>T	ENSP00000268704:p.Ser675Phe		Somatic					p.S675F	NM_003119.2	NP_003110.1	WXS	Illumina GAIIx	Phase_I	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	15	2039	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	675					O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.2024C>T	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396329	0.83011	.	.	ENSG00000197912	ENST00000268704	D	0.85955	-2.05	5.21	5.21	0.72293	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.92374	0.7580	M	0.77406	2.37	0.80722	D	1	D	0.69078	0.997	D	0.79784	0.993	D	0.93280	0.6659	10	0.87932	D	0	.	17.776	0.88508	0.0:1.0:0.0:0.0	.	675	Q9UQ90	SPG7_HUMAN	F	675	ENSP00000268704:S675F	ENSP00000268704:S675F	S	+	2	0	SPG7	88147790	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	7.468000	0.80943	2.423000	0.82170	0.563000	0.77884	TCC		0.662	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		42	48	0	0	0	1	0	42	48					T	89620289	C	T	89620289	3	4	8	1	0	0	0	0	1	0	0	0	15059	855	30	3	2232	3	SPG7	16	89620289	Missense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08	18110632	89620289	734464	49	553										
C1QBP	708	broad.mit.edu	37	chr17	5338195	5338195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	attatagtattagcttacctCctgttcttcaaccttctgcc	4	12	3	0			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:5338195C>T	ENST00000225698.4	-	3	556	c.475G>A	c.(475-477)Gag>Aag	p.E159K	C1QBP_ENST00000574444.1_Missense_Mutation_p.E55K|CTC-524C5.2_ENST00000575890.1_RNA	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	159					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	TAGCTTACCTCCTGTTCTTCA	0.438																																						ENST00000225698.4																			0				lung(2)|ovary(1)	3						c.(475-477)Gag>Aag		complement component 1, q subcomponent binding protein							117	105	109					17																	5338195		2203	4300	6503	SO:0001583	missense	708				blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane		g.chr17:5338195C>T	X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"C1q globular domain-binding protein", "hyaluronan-binding protein 1", "splicing factor SF2-associated protein"	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021		ENST00000225698.4:c.475G>A	17.37:g.5338195C>T	ENSP00000225698:p.Glu159Lys		Somatic				C1QBP_ENST00000574444.1_Missense_Mutation_p.E55K	p.E159K	NM_001212.3	NP_001203.1	WXS	Illumina GAIIx	Phase_I	Q07021	C1QBP_HUMAN			3	556	-			159					Q2HXR8|Q9NNY8	Missense_Mutation	SNP	ENST00000225698.4	37	c.475G>A	CCDS11071.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831403	0.71258	.	.	ENSG00000108561	ENST00000225698	.	.	.	4.3	4.3	0.51218	.	0.050171	0.85682	D	0.000000	T	0.65365	0.2684	M	0.66939	2.045	0.54753	D	0.999985	P	0.39326	0.668	B	0.42112	0.376	T	0.71217	-0.4658	9	0.56958	D	0.05	-21.3832	16.2908	0.82750	0.0:1.0:0.0:0.0	.	159	Q07021	C1QBP_HUMAN	K	159	.	ENSP00000225698:E159K	E	-	1	0	C1QBP	5278919	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.632000	0.67819	2.378000	0.81104	0.563000	0.77884	GAG		0.438	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439388.1	NM_001212		4	43	0	0	0	1	0	4	43					T	5338195	C	T	5338195	3	4	8	1	0	0	0	0	1	0	0	0	1958	864	30	3	389	3	C1QBP	17	5338195	Missense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08		5338195	75857015	50	554										
TP53	7157	broad.mit.edu	37	chr17	7579575	7579575	+	Frame_Shift_Del	DEL	G	G	-													0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	catcaaatcatccattgcttGggacggcaagggggactgta							TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:7579575delG	ENST00000269305.4	-	4	301	c.112delC	c.(112-114)caafs	p.Q38fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.Q38fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.Q38fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.Q38fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.Q38fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.Q38fs|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	38	Interaction with HRMT1L2.|Transcription activation (acidic).				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.Q38*(8)|p.0?(8)|p.P36fs*4(3)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S37fs*79(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)	TCCATTGCTTGGGACGGCAAG	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"		23	Substitution - Nonsense(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(1)	p.Q38*(8)|p.0?(8)|p.P36fs*4(3)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S37fs*79(1)	lung(4)|prostate(4)|bone(4)|ovary(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|breast(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.(112-114)aafs	Other conserved DNA damage response genes	tumor protein p53							159	156	157					17																	7579575		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.chr17:7579575delG	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.112delC	17.37:g.7579575delG	ENSP00000269305:p.Gln38fs	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.Q38fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.Q38fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.Q38fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.Q38fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.Q38fs	p.Q38fs	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	244	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	38			Interaction with HRMT1L2.|Transcription activation (acidic).		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.112delC	CCDS11118.1																																																																																				0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		210	27						210	27	---	---	---	---	-	7579575	G	-	7579575	7	5	8	1	0	1	0	1	0	0	0	0	16396	1357	47	0	1190	0	TP53	17	7579575	Frame_Shift_Del	DEL	G	TCGA-N5-A4RO-01A-11D-A28R-08	2241380	7579575	73615635	51	555										
MYO15A	51168	broad.mit.edu	37	chr17	18060487	18060487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	taggctacagtgctggctgcGtggttcgcaggaaggtggtg	18	7	0	0			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:18060487G>A	ENST00000205890.5	+	50	9069	c.8731G>A	c.(8731-8733)Gtg>Atg	p.V2911M	MYO15A_ENST00000451725.2_5'Flank|MYO15A_ENST00000418233.3_Missense_Mutation_p.V175M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2911	SH3.|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.V2911M(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)					TGCTGGCTGCGTGGTTCGCAG	0.672																																						ENST00000205890.5																			1	Substitution - Missense(1)	p.V2911M(1)	lung(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.(8731-8733)Gtg>Atg		myosin XVA							26	35	32					17																	18060487		2057	4206	6263	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18060487G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8731G>A	17.37:g.18060487G>A	ENSP00000205890:p.Val2911Met		Somatic				MYO15A_ENST00000418233.3_Missense_Mutation_p.V175M	p.V2911M	NM_016239.3	NP_057323.3	WXS	Illumina GAIIx	Phase_I	Q9UKN7	MYO15_HUMAN			50	9069	+	all_neural(463;0.228)		2911			SH3.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.8731G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120579	0.37436	.	.	ENSG00000091536	ENST00000205890;ENST00000536811	D	0.90261	-2.64	5.18	4.2	0.49525	Src homology-3 domain (2);Variant SH3 (1);	.	.	.	.	D	0.92427	0.7596	L	0.43152	1.355	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.999	D;P;D	0.69824	0.966;0.9;0.961	D	0.92723	0.6193	9	0.72032	D	0.01	.	13.1463	0.59463	0.0772:0.0:0.9228:0.0	.	110;175;2911	B7Z6L1;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	M	2911;110	ENSP00000205890:V2911M	ENSP00000205890:V2911M	V	+	1	0	MYO15A	18001212	0.998000	0.40836	0.997000	0.53966	0.857000	0.48899	3.099000	0.50267	2.433000	0.82419	0.555000	0.69702	GTG		0.672	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		9	23	0	0	0	1	0	9	23					A	18060487	G	A	18060487	3	1	8	1	0	0	0	0	1	0	0	0	10072	1145	40	1	8921	1	MYO15A	17	18060487	Missense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08	10480912	18060487	63134723	52	556										
DHX58	79132	broad.mit.edu	37	chr17	40262802	40262802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	cgccagtgcctggggaggctGtgagacccagcacctggggt	17	12	0	1			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:40262802G>A	ENST00000251642.3	-	5	722	c.500C>T	c.(499-501)aCa>aTa	p.T167I		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	167	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGGGAGGCTGTGAGACCCAG	0.627																																						ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(499-501)aCa>aTa		DEXH (Asp-Glu-X-His) box polypeptide 58							97	94	95					17																	40262802		2203	4300	6503	SO:0001583	missense	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40262802G>A	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"RNA helicase LGP2"	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.500C>T	17.37:g.40262802G>A	ENSP00000251642:p.Thr167Ile		Somatic					p.T167I	NM_024119.2	NP_077024.2	WXS	Illumina GAIIx	Phase_I	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	722	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	167			Helicase ATP-binding.		Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	c.500C>T	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458767	0.84317	.	.	ENSG00000108771	ENST00000251642;ENST00000423748;ENST00000413196	T;T	0.56611	2.77;0.45	4.93	3.89	0.44902	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.119358	0.56097	D	0.000031	T	0.80924	0.4717	H	0.97440	4.005	0.45139	D	0.998157	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87098	0.2177	10	0.87932	D	0	.	13.1014	0.59222	0.0:0.0:0.8391:0.1609	.	160;167	B7Z455;Q96C10	.;DHX58_HUMAN	I	167;130;167	ENSP00000251642:T167I;ENSP00000416389:T167I	ENSP00000251642:T167I	T	-	2	0	DHX58	37516328	1.000000	0.71417	0.995000	0.50966	0.955000	0.61496	6.582000	0.74049	2.290000	0.77057	0.555000	0.69702	ACA		0.627	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		4	78	0	0	0	1	0	4	78					A	40262802	G	A	40262802	3	1	8	1	0	0	0	0	1	0	0	0	4516	1377	48	3	1576	3	DHX58	17	40262802	Missense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08	22202315	40262802	40932408	53	557										
WNT9B	7484	broad.mit.edu	37	chr17	44952563	44952563	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	tgggcgcatggagcgctgcaCctgtgatgactctccggggc	16	12	1	2			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:44952563C>G	ENST00000290015.2	+	3	484	c.431C>G	c.(430-432)aCc>aGc	p.T144S	WNT9B_ENST00000393461.2_Missense_Mutation_p.T144S	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	144					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GAGCGCTGCACCTGTGATGAC	0.647																																						ENST00000393461.2																			0				large_intestine(2)|lung(8)	10						c.(430-432)aCc>aGc		wingless-type MMTV integration site family, member 9B							66	73	71					17																	44952563		2203	4299	6502	SO:0001583	missense	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44952563C>G	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"Wingless-type MMTV integration sites"	12779	protein-coding gene	gene with protein product		602864	"wingless-type MMTV integration site family, member 15"	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.431C>G	17.37:g.44952563C>G	ENSP00000290015:p.Thr144Ser		Somatic				WNT9B_ENST00000290015.2_Missense_Mutation_p.T144S	p.T144S			WXS	Illumina GAIIx	Phase_I	O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		3	484	+			144					Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	c.431C>G	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026619	0.54683	.	.	ENSG00000158955	ENST00000376843;ENST00000393461;ENST00000290015	T;T	0.75154	-0.91;-0.91	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	N	0.25957	0.775	0.54753	D	0.999987	D;D	0.76494	0.999;0.998	D;D	0.69654	0.965;0.926	T	0.70085	-0.4969	10	0.12103	T	0.63	.	17.9971	0.89187	0.0:1.0:0.0:0.0	.	144;144	E7EPC3;O14905	.;WNT9B_HUMAN	S	138;144;144	ENSP00000377105:T144S;ENSP00000290015:T144S	ENSP00000290015:T144S	T	+	2	0	WNT9B	42307562	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.799000	0.69101	2.550000	0.86006	0.462000	0.41574	ACC		0.647	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		118	9	0	0	0	1	0	118	9					G	44952563	C	G	44952563	3	3	8	1	0	0	0	0	1	0	0	0	17414	507	18	5	441	5	WNT9B	17	44952563	Missense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08	4689761	44952563	36242647	54	558										
SPOP	8405	broad.mit.edu	37	chr17	47696730	47696730	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	tttcttcatctaaccctttgGggtttactcgcaaacacctg	6	12	3	0			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:47696730G>C	ENST00000393328.2	-	5	583	c.218C>G	c.(217-219)cCc>cGc	p.P73R	SPOP_ENST00000347630.2_Missense_Mutation_p.P73R|SPOP_ENST00000504102.1_Missense_Mutation_p.P73R|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000503676.1_Missense_Mutation_p.P73R|SPOP_ENST00000393331.3_Missense_Mutation_p.P73R	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	73	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						TAACCCTTTGGGGTTTACTCG	0.393										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(217-219)cCc>cGc		speckle-type POZ protein							69	65	66					17																	47696730		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696730G>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.218C>G	17.37:g.47696730G>C	ENSP00000377001:p.Pro73Arg	Prostate(2;0.17)	Somatic				SPOP_ENST00000504102.1_Missense_Mutation_p.P73R|SPOP_ENST00000503676.1_Missense_Mutation_p.P73R|SPOP_ENST00000393328.2_Missense_Mutation_p.P73R|SPOP_ENST00000347630.2_Missense_Mutation_p.P73R|SPOP_ENST00000513080.1_5'UTR	p.P73R	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	O43791	SPOP_HUMAN			6	688	-			73			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.218C>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456666	0.84317	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	D;D;D;D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.94175	0.8131	H	0.95712	3.71	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.95208	0.8323	10	0.87932	D	0	-8.2641	19.2223	0.93803	0.0:0.0:1.0:0.0	.	73	O43791	SPOP_HUMAN	R	73;73;73;73;73;26;73;73;73;73;73	ENSP00000377001:P73R;ENSP00000377004:P73R;ENSP00000240327:P73R;ENSP00000425905:P73R;ENSP00000420908:P73R;ENSP00000426986:P73R;ENSP00000420960:P73R;ENSP00000426262:P73R;ENSP00000424119:P73R;ENSP00000426537:P73R	ENSP00000240327:P73R	P	-	2	0	SPOP	45051729	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.652000	0.98499	2.873000	0.98535	0.563000	0.77884	CCC		0.393	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		25	2	0	0	0	1	0	25	2					C	47696730	G	C	47696730	3	2	8	1	0	0	0	0	1	0	0	0	15099	1232	43	5	934	5	SPOP	17	47696730	Missense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08	2744167	47696730	33498480	55	559										
TCEB3C	162699	broad.mit.edu	37	chr18	44554604	44554604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	agaatcttcccttgtagtctCgaattgccttggccatcagc	8	12	3	1			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr18:44554604C>T	ENST00000330682.2	-	1	1845	c.1610G>A	c.(1609-1611)cGa>cAa	p.R537Q	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	537					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTTGTAGTCTCGAATTGCCTT	0.602																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(1609-1611)cGa>cAa		transcription elongation factor B polypeptide 3C (elongin A3)							82	83	83					18																	44554604		1219	2523	3742	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44554604C>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"elongin A3"					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1610G>A	18.37:g.44554604C>T	ENSP00000328232:p.Arg537Gln		Somatic				KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	p.R537Q	NM_145653.3	NP_663628.2	WXS	Illumina GAIIx	Phase_I	Q8NG57	ELOA3_HUMAN			1	1845	-			537						Missense_Mutation	SNP	ENST00000330682.2	37	c.1610G>A	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	c	11.03	1.518440	0.27211	.	.	ENSG00000183791	ENST00000330682	T	0.12361	2.69	1.35	-2.0	0.07433	.	0.966817	0.08280	U	0.970083	T	0.08268	0.0206	L	0.44542	1.39	0.09310	N	1	P	0.51147	0.942	B	0.31869	0.137	T	0.24368	-1.0162	10	0.72032	D	0.01	-1.7104	5.0188	0.14350	0.0:0.43:0.0:0.57	.	537	Q8NG57	ELOA3_HUMAN	Q	537	ENSP00000328232:R537Q	ENSP00000328232:R537Q	R	-	2	0	TCEB3C	42808602	0.976000	0.34144	0.000000	0.03702	0.011000	0.07611	0.472000	0.22116	-0.685000	0.05177	0.485000	0.47835	CGA		0.602	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		8	394	0	0	0	1	0	8	394					T	44554604	C	T	44554604	3	4	8	1	0	0	0	0	1	0	0	0	15698	884	31	1	1677	1	TCEB3C	18	44554604	Missense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08		44554604	33522644	56	560										
ZNF536	9745	broad.mit.edu	37	chr19	30935256	30935256	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	cctcgcccaagcctgccagcGtgcaggaggacgcggtggcc	15	16	0	0			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:30935256G>C	ENST00000355537.3	+	2	934	c.787G>C	c.(787-789)Gtg>Ctg	p.V263L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	263					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)					GCCTGCCAGCGTGCAGGAGGA	0.711																																						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.(787-789)Gtg>Ctg		zinc finger protein 536							7	9	8					19																	30935256		2068	4091	6159	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935256G>C		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.787G>C	19.37:g.30935256G>C	ENSP00000347730:p.Val263Leu		Somatic					p.V263L	NM_014717.1	NP_055532.1	WXS	Illumina GAIIx	Phase_I	O15090	ZN536_HUMAN			2	934	+	Esophageal squamous(110;0.0834)		263					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.787G>C	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.733565	0.00687	.	.	ENSG00000198597	ENST00000355537	T	0.07688	3.17	5.7	1.98	0.26296	.	0.623042	0.16327	N	0.219280	T	0.03520	0.0101	N	0.11560	0.145	0.09310	N	0.999996	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.46596	-0.9180	10	0.09590	T	0.72	-11.395	6.1282	0.20192	0.0704:0.1188:0.6343:0.1764	.	263;263	A7E228;O15090	.;ZN536_HUMAN	L	263	ENSP00000347730:V263L	ENSP00000347730:V263L	V	+	1	0	ZNF536	35627096	0.114000	0.22134	0.823000	0.32752	0.452000	0.32318	0.704000	0.25661	0.599000	0.29845	0.491000	0.48974	GTG		0.711	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		6	124	0	0	0	1	0	6	124					C	30935256	G	C	30935256	3	2	8	1	0	0	0	0	1	0	0	0	17989	1145	40	5	789	5	ZNF536	19	30935256	Missense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08		30935256	28193727	57	561										
WDR88	126248	broad.mit.edu	37	chr19	33639792	33639792	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	gcataatggacgccgagaacAtcaccaccgtttccgtcatc	8	14	2	1			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:33639792A>G	ENST00000355868.3	+	5	731	c.655A>G	c.(655-657)Atc>Gtc	p.I219V	WDR88_ENST00000361680.2_Missense_Mutation_p.I219V	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	219										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CGCCGAGAACATCACCACCGT	0.502																																						ENST00000361680.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(655-657)Atc>Gtc		WD repeat domain 88							166	125	139					19																	33639792		2203	4300	6503	SO:0001583	missense	126248							g.chr19:33639792A>G	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"WD repeat domain containing"	26999	protein-coding gene	gene with protein product			"PQQ repeat and WD repeat domain containing"	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.655A>G	19.37:g.33639792A>G	ENSP00000348129:p.Ile219Val		Somatic				WDR88_ENST00000355868.3_Missense_Mutation_p.I219V	p.I219V			WXS	Illumina GAIIx	Phase_I	Q6ZMY6	WDR88_HUMAN			5	733	+	Esophageal squamous(110;0.137)		219					Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	c.655A>G	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	A	12.39	1.924267	0.34002	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.39406	1.08;1.08	5.46	-9.22	0.00675	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.333120	0.05060	N	0.479759	T	0.18676	0.0448	N	0.12746	0.255	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.14783	-1.0460	10	0.37606	T	0.19	.	4.6907	0.12780	0.1955:0.0921:0.6208:0.0916	.	219	Q6ZMY6	WDR88_HUMAN	V	219	ENSP00000348129:I219V;ENSP00000355148:I219V	ENSP00000348129:I219V	I	+	1	0	WDR88	38331632	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.040000	0.12104	-1.803000	0.01242	-0.312000	0.09012	ATC		0.502	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		28	120	0	0	0	1	0	28	120					G	33639792	A	G	33639792	3	3	8	1	0	0	0	0	1	0	0	0	17350	217	8	4	673	4	WDR88	19	33639792	Missense_Mutation	SNP	A	TCGA-N5-A4RO-01A-11D-A28R-08	2704536	33639792	25489191	58	562										
ZNF585A	199704	broad.mit.edu	37	chr19	37644265	37644265	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	agggtttctctctcatatggGttttctggtgtataataaat	9	5	3	0			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:37644265G>C	ENST00000356958.4	-	5	794	c.536C>G	c.(535-537)aCc>aGc	p.T179S	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.T124S|ZNF585A_ENST00000355533.2_Missense_Mutation_p.T124S|ZNF585A_ENST00000392157.2_Missense_Mutation_p.T124S			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	179					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)			TCTCATATGGGTTTTCTGGTG	0.388																																						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.(535-537)aCc>aGc		zinc finger protein 585A							111	107	109					19																	37644265		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37644265G>C	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.536C>G	19.37:g.37644265G>C	ENSP00000349440:p.Thr179Ser		Somatic				ZNF585A_ENST00000355533.2_Missense_Mutation_p.T124S|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.T124S|ZNF585A_ENST00000292841.5_Missense_Mutation_p.T124S	p.T179S			WXS	Illumina GAIIx	Phase_I	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	794	-			179					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.536C>G		.	.	.	.	.	.	.	.	.	.	G	2.679	-0.275885	0.05679	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	3.31	-0.567	0.11763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.689350	0.11967	N	0.512205	T	0.11367	0.0277	N	0.25094	0.71	0.23221	N	0.998097	B	0.02656	0.0	B	0.04013	0.001	T	0.25606	-1.0127	10	0.48119	T	0.1	.	3.6251	0.08111	0.2072:0.0:0.4537:0.339	.	179	Q6P3V2	Z585A_HUMAN	S	179;124;124;124	ENSP00000349440:T179S;ENSP00000292841:T124S;ENSP00000375998:T124S;ENSP00000347724:T124S	ENSP00000292841:T124S	T	-	2	0	ZNF585A	42336105	0.000000	0.05858	0.095000	0.20976	0.035000	0.12851	-1.045000	0.03528	-0.119000	0.11830	0.561000	0.74099	ACC		0.388	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		23	105	0	0	0	1	0	23	105					C	37644265	G	C	37644265	3	2	8	1	0	0	0	0	1	0	0	0	18032	1261	44	5	1777	5	ZNF585A	19	37644265	Missense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08	4004473	37644265	21484718	59	563										
KIR3DL1	3811	broad.mit.edu	37	chr19	55331226	55331226	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	cccctggtgaaatcaggagaGagagtcatcctgcaatgttg	12	9	2	3	rs201471071	byFrequency	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:55331226G>C	ENST00000391728.4	+	4	447	c.414G>C	c.(412-414)gaG>gaC	p.E138D	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.E138D|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.E138D|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.E138D|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.E43D|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.E138D	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	138	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)		AATCAGGAGAGAGAGTCATCC	0.488																																						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.(412-414)gaG>gaC		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1		G	ASP/GLU	0,4362		0,0,2181	58	55	56		414	1.3	0	19		56	5,8291		1,3,4144	no	missense	KIR3DL1	NM_013289.2	45	1,3,6325	CC,CG,GG		0.0603,0.0,0.0395		138/445	55331226	5,12653	2181	4148	6329	SO:0001583	missense	3811							g.chr19:55331226G>C	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.414G>C	19.37:g.55331226G>C	ENSP00000375608:p.Glu138Asp		Somatic				KIR3DL1_ENST00000326542.7_Missense_Mutation_p.E138D|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.E43D|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.E138D|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.E138D|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.E138D	p.E138D	NM_013289.2	NP_037421.2	WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(193;0.0192)	4	447	+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.414G>C	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	11.49	1.652881	0.29336	0.0	6.03E-4	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.00776	5.71;5.71;5.71;5.71;5.71;5.71	1.33	1.33	0.21861	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.472120	0.05414	U	0.543050	T	0.04724	0.0128	M	0.86502	2.82	0.09310	N	1	P;P;P;B	0.52842	0.956;0.956;0.941;0.298	P;D;D;B	0.68943	0.712;0.909;0.961;0.167	T	0.29912	-0.9996	10	0.87932	D	0	.	6.088	0.19978	0.0:0.0:1.0:0.0	.	138;43;138;138	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	D	138;138;138;116;138;138;43	ENSP00000384528:E138D;ENSP00000443350:E138D;ENSP00000442355:E138D;ENSP00000375608:E138D;ENSP00000326868:E138D;ENSP00000350901:E43D	ENSP00000326868:E138D	E	+	3	2	KIR3DL1	60023038	0.003000	0.15002	0.006000	0.13384	0.009000	0.06853	1.141000	0.31528	1.058000	0.40530	0.184000	0.17185	GAG		0.488	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		29	83	0	0	0	1	0	29	83					C	55331226	G	C	55331226	3	2	8	1	0	0	0	0	1	0	0	0	8329	933	33	2	428	2	KIR3DL1	19	55331226	Missense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08	17686961	55331226	3797757	60	564										
MATN4	8785	broad.mit.edu	37	chr20	43933030	43933030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	ttcaatgccgcgggcgcgcgCctgtgccgccacctcggcca	13	18	1	0			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr20:43933030C>T	ENST00000372754.1	-	2	489	c.481G>A	c.(481-483)Gcg>Acg	p.A161T	RBPJL_ENST00000343694.3_5'Flank|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000342716.4_Missense_Mutation_p.A161T|MATN4_ENST00000353917.5_Missense_Mutation_p.A161T|MATN4_ENST00000360607.6_Missense_Mutation_p.A161T|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000537548.1_Missense_Mutation_p.A161T|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000372756.1_Missense_Mutation_p.A161T			O95460	MATN4_HUMAN	matrilin 4	161	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)				CGGGCGCGCGCCTGTGCCGCC	0.741																																						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.(481-483)Gcg>Acg		matrilin 4							7	9	8					20																	43933030		2117	4093	6210	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43933030C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.481G>A	20.37:g.43933030C>T	ENSP00000361840:p.Ala161Thr		Somatic				MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.A161T|MATN4_ENST00000360607.5_Missense_Mutation_p.A161T|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000353917.5_Missense_Mutation_p.A161T|MATN4_ENST00000372756.1_Missense_Mutation_p.A161T|MATN4_ENST00000372754.1_Missense_Mutation_p.A161T	p.A161T			WXS	Illumina GAIIx	Phase_I	O95460	MATN4_HUMAN			4	725	-		Myeloproliferative disorder(115;0.0122)	161			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.481G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.640329	0.96693	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	4.77	4.77	0.60923	.	0.000000	0.43919	D	0.000519	D	0.91707	0.7378	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93432	0.6786	10	0.72032	D	0.01	.	17.0104	0.86405	0.0:1.0:0.0:0.0	.	161;161;161	A6NNA4;O95460-4;O95460-2	.;.;.	T	161	ENSP00000361840:A161T;ENSP00000361842:A161T;ENSP00000243983:A161T;ENSP00000353819:A161T;ENSP00000343164:A161T;ENSP00000440328:A161T	ENSP00000255132:A161T	A	-	1	0	MATN4	43366444	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.582000	0.82546	2.501000	0.84356	0.456000	0.33151	GCG		0.741	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			21	203	0	0	0	1	0	21	203					T	43933030	C	T	43933030	3	4	8	1	0	0	0	0	1	0	0	0	9345	739	26	3	1296	3	MATN4	20	43933030	Missense_Mutation	SNP	C	TCGA-N5-A4RO-01A-11D-A28R-08		43933030	19092490	61	565										
MC3R	4159	broad.mit.edu	37	chr20	54824467	54824467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	cggagagcaaaatggtcattGtgtgcctcatcaccatgttc	10	10	3	1			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr20:54824467G>A	ENST00000243911.2	+	1	680	c.568G>A	c.(568-570)Gtg>Atg	p.V190M		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	190					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)			AATGGTCATTGTGTGCCTCAT	0.577																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(568-570)Gtg>Atg		melanocortin 3 receptor							225	195	205					20																	54824467		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824467G>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.568G>A	20.37:g.54824467G>A	ENSP00000243911:p.Val190Met		Somatic					p.V190M	NM_019888.3	NP_063941.3	WXS	Illumina GAIIx	Phase_I	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	680	+			227					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.568G>A	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488168	0.64074	.	.	ENSG00000124089	ENST00000243911	T	0.39056	1.1	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.59783	0.2219	M	0.64997	1.995	0.43218	D	0.99509	D	0.69078	0.997	D	0.68621	0.959	T	0.62534	-0.6834	10	0.87932	D	0	.	13.0996	0.59212	0.0778:0.0:0.9222:0.0	.	227	P41968	MC3R_HUMAN	M	190	ENSP00000243911:V190M	ENSP00000243911:V190M	V	+	1	0	MC3R	54257874	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.317000	0.59184	2.500000	0.84329	0.650000	0.86243	GTG		0.577	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			53	45	0	0	0	1	0	53	45					A	54824467	G	A	54824467	3	1	8	1	0	0	0	0	1	0	0	0	9374	1377	48	3	570	3	MC3R	20	54824467	Missense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08	10891437	54824467	8201053	62	566										
TIAM1	7074	broad.mit.edu	37	chr21	32624411	32624411	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	tgggtgagtagctggagttgGtggcattagatcgcctggac	17	6	0	2			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr21:32624411G>C	ENST00000286827.3	-	6	1529	c.1058C>G	c.(1057-1059)aCc>aGc	p.T353S	TIAM1_ENST00000541036.1_Missense_Mutation_p.T353S|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	353					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						GCTGGAGTTGGTGGCATTAGA	0.622																																						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.(1057-1059)aCc>aGc		T-cell lymphoma invasion and metastasis 1							153	161	158					21																	32624411		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.chr21:32624411G>C		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.1058C>G	21.37:g.32624411G>C	ENSP00000286827:p.Thr353Ser		Somatic				TIAM1_ENST00000541036.1_Missense_Mutation_p.T353S|TIAM1_ENST00000469412.1_5'UTR	p.T353S	NM_003253.2	NP_003244.2	WXS	Illumina GAIIx	Phase_I	Q13009	TIAM1_HUMAN			6	1529	-			353					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.1058C>G	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147796	0.37923	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.38887	1.12;1.11	4.89	4.89	0.63831	.	0.049256	0.85682	D	0.000000	T	0.37376	0.1001	L	0.44542	1.39	0.58432	D	0.99999	P;P;P	0.46859	0.885;0.817;0.817	B;B;B	0.42593	0.392;0.22;0.22	T	0.13522	-1.0506	10	0.10377	T	0.69	.	18.2573	0.90023	0.0:0.0:1.0:0.0	.	353;353;353	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	S	353;194;353	ENSP00000286827:T353S;ENSP00000441570:T353S	ENSP00000286827:T353S	T	-	2	0	TIAM1	31546282	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.158000	0.77470	2.519000	0.84933	0.655000	0.94253	ACC		0.622	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		96	221	0	0	0	1	0	96	221					C	32624411	G	C	32624411	3	2	8	1	0	0	0	0	1	0	0	0	15905	1261	44	5	3813	5	TIAM1	21	32624411	Missense_Mutation	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08		32624411	15505484	63	567										
VSIG4	11326	broad.mit.edu	37	chrX	65242163	65242163	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	aatccagaggaactgtgtccAgcaggcgggcgtagttgcca	14	10	0	1			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chrX:65242163A>G	ENST00000374737.4	-	8	1250	c.1142T>C	c.(1141-1143)cTg>cCg	p.L381P	VSIG4_ENST00000412866.2_Missense_Mutation_p.L287P|VSIG4_ENST00000455586.2_3'UTR	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	381					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)				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						AACTGTGTCCAGCAGGCGGGC	0.507																																						ENST00000374737.4																			0				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.(1141-1143)cTg>cCg		V-set and immunoglobulin domain containing 4							81	68	72					X																	65242163		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65242163A>G	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.1142T>C	X.37:g.65242163A>G	ENSP00000363869:p.Leu381Pro		Somatic				VSIG4_ENST00000455586.2_3'UTR|VSIG4_ENST00000412866.2_Missense_Mutation_p.L287P	p.L381P	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	WXS	Illumina GAIIx	Phase_I	Q9Y279	VSIG4_HUMAN			8	1250	-			381					Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.1142T>C	CCDS14383.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.770087	0.31320	.	.	ENSG00000155659	ENST00000374737;ENST00000412866	T;T	0.51817	0.69;1.2	4.48	4.48	0.54585	.	0.250837	0.20871	N	0.084179	T	0.62865	0.2463	M	0.65975	2.015	0.42479	D	0.992855	D;D	0.89917	1.0;0.997	D;P	0.71870	0.975;0.871	T	0.66093	-0.6009	10	0.87932	D	0	-1.862	9.1905	0.37195	1.0:0.0:0.0:0.0	.	287;381	Q9Y279-3;Q9Y279	.;VSIG4_HUMAN	P	381;287	ENSP00000363869:L381P;ENSP00000394143:L287P	ENSP00000363869:L381P	L	-	2	0	VSIG4	65158888	0.440000	0.25618	0.104000	0.21259	0.010000	0.07245	3.470000	0.53100	1.769000	0.52152	0.380000	0.24917	CTG		0.507	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		14	59	0	0	0	1	0	14	59					G	65242163	A	G	65242163	3	3	8	1	0	0	0	0	1	0	0	0	17240	188	7	4	61	4	VSIG4	23	65242163	Missense_Mutation	SNP	A	TCGA-N5-A4RO-01A-11D-A28R-08		65242163	90028397	64	568										
RGAG4	340526	broad.mit.edu	37	chrX	71350557	71350557	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	cggaagaattccgacaggccTttgaggaattggttttggag	14	6	0	2			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chrX:71350557T>A	ENST00000545866.1	-	1	1201	c.834A>T	c.(832-834)aaA>aaT	p.K278N	NHSL2_ENST00000373677.1_5'Flank|RGAG4_ENST00000609883.1_Missense_Mutation_p.K278N|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	278										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CCGACAGGCCTTTGAGGAATT	0.502																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(832-834)aaA>aaT		retrotransposon gag domain containing 4							97	94	95					X																	71350557		1894	4105	5999	SO:0001583	missense	340526							g.chrX:71350557T>A	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.834A>T	X.37:g.71350557T>A	ENSP00000441366:p.Lys278Asn		Somatic				NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.K278N	p.K278N			WXS	Illumina GAIIx	Phase_I	Q5HYW3	RGAG4_HUMAN			1	1201	-	Renal(35;0.156)		278					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.834A>T	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.836133	0.50951	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.12879	2.64;2.64	3.82	0.0771	0.14406	Retrotransposon gag protein (1);	.	.	.	.	T	0.10121	0.0248	N	0.08118	0	0.25621	N	0.986406	P	0.52577	0.954	P	0.54060	0.741	T	0.27971	-1.0058	8	.	.	.	-3.0527	5.7537	0.18160	0.0:0.3819:0.0:0.6181	.	278	Q5HYW3	RGAG4_HUMAN	N	278	ENSP00000441366:K278N;ENSP00000418667:K278N	.	K	-	3	2	RGAG4	71267282	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	0.544000	0.23253	-0.080000	0.12685	0.430000	0.28490	AAA		0.502	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		56	70	0	0	0	1	0	56	70					A	71350557	T	A	71350557	3	1	8	1	0	0	0	0	1	0	0	0	13290	1606	56	4	879	4	RGAG4	23	71350557	Missense_Mutation	SNP	T	TCGA-N5-A4RO-01A-11D-A28R-08	6108394	71350557	83920003	65	569										
CXorf57	55086	broad.mit.edu	37	chrX	105876451	105876451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0909090909090909	6	1	1.20309810671256	3.00774526678141	0.300774526678141	0.118881118881119	0.605042016806723	0	gtggaactgttttcaacatcGcagccagaaatctttgaaaa	8	8	2	2	rs372633270		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chrX:105876451G>A	ENST00000372548.4	+	6	1381	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	CXorf57_ENST00000372544.2_Silent_p.S424S	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	424							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTCAACATCGCAGCCAGAAA	0.318																																						ENST00000372548.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1270-1272)tcG>tcA		chromosome X open reading frame 57		G	,	0,3835		0,0,1632,571	59	57	58		1272,1272	-1.1	1	X		58	1,6726		0,1,2427,1871	no	coding-synonymous,coding-synonymous	CXorf57	NM_001184782.1,NM_018015.5	,	0,1,4059,2442	AA,AG,GG,G		0.0149,0.0,0.0095	,	424/759,424/856	105876451	1,10561	2203	4299	6502	SO:0001819	synonymous_variant	55086							g.chrX:105876451G>A	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1272G>A	X.37:g.105876451G>A			Somatic				CXorf57_ENST00000372544.2_Silent_p.S424S	p.S424S	NM_018015.5	NP_060485.4	WXS	Illumina GAIIx	Phase_I	Q6NSI4	CX057_HUMAN			6	1381	+			424					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Silent	SNP	ENST00000372548.4	37	c.1272G>A	CCDS14519.1																																																																																				0.318	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		19	5	0	0	0	1	0	19	5					A	105876451	G	A	105876451	2	1	8	1	0	0	0	0	0	0	0	1	4115	1074	38	1		1	CXorf57	23	105876451	Silent	SNP	G	TCGA-N5-A4RO-01A-11D-A28R-08	34525894	105876451	49394109	66	570										
C1QB	713	broad.mit.edu	37	chr1	22986093	22986093	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	ggtatccctgggacacctggCcccgatggccaacctgggac	13	15	0	0			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:22986093C>T	ENST00000314933.6	+	2	276	c.144C>T	c.(142-144)ggC>ggT	p.G48G	C1QB_ENST00000509305.1_Silent_p.G46G	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	48	Collagen-like 1.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGACACCTGGCCCCGATGGCC	0.602																																						ENST00000509305.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.(136-138)ggC>ggT		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						32	33	33					1																	22986093		2203	4300	6503	SO:0001819	synonymous_variant	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22986093C>T	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"Complement system"	1242	protein-coding gene	gene with protein product		120570	"complement component 1, q subcomponent, beta polypeptide"			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.144C>T	1.37:g.22986093C>T			Somatic				C1QB_ENST00000314933.6_Silent_p.G48G	p.G46G			WXS	Illumina GAIIx	Phase_I	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	2	484	+		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)	48			Collagen-like 1.		Q5T959|Q96H17	Silent	SNP	ENST00000314933.6	37	c.138C>T	CCDS228.1																																																																																				0.602	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491		9	14	0	0	0	1	0	9	14					T	22986093	C	T	22986093	2	4	9	1	0	0	0	0	0	0	0	1	1957	726	26	3		3	C1QB	1	22986093	Silent	SNP	C	TCGA-N5-A4RS-01A-11D-A28R-08		22986093	226264528	1	571										
FUCA1	2517	broad.mit.edu	37	chr1	24175172	24175172	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	tgttcttttcccattgcaccCgccatggtttggaggcatag	10	11	1	0	rs145603001		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:24175172C>T	ENST00000374479.3	-	6	1134	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	376					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CCATTGCACCCGCCATGGTTT	0.478													C|||	1	0.000199681	0	0	5008	,	,		18906	0		0.001	False		,,,				2504	0					ENST00000374479.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8						c.(1126-1128)cGg>cAg		fucosidase, alpha-L- 1, tissue		C	GLN/ARG	0,4406		0,0,2203	116	97	103		1127	3.9	0.7	1	dbSNP_134	103	3,8597	3.0+/-9.4	0,3,4297	yes	missense	FUCA1	NM_000147.4	43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	376/467	24175172	3,13003	2203	4300	6503	SO:0001583	missense	2517				fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	g.chr1:24175172C>T	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.1127G>A	1.37:g.24175172C>T	ENSP00000363603:p.Arg376Gln		Somatic					p.R376Q	NM_000147.4	NP_000138.2	WXS	Illumina GAIIx	Phase_I	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	6	1134	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	376					B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	ENST00000374479.3	37	c.1127G>A	CCDS244.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.17	2.755458	0.49362	0.0	3.49E-4	ENSG00000179163	ENST00000374479;ENST00000374475	T	0.53206	0.63	4.85	3.94	0.45596	.	0.039432	0.85682	D	0.000000	T	0.55465	0.1922	M	0.92833	3.35	0.58432	D	0.999996	B	0.32010	0.351	B	0.25759	0.063	T	0.64466	-0.6401	10	0.54805	T	0.06	-11.619	13.2378	0.59979	0.0:0.9239:0.0:0.0761	.	376	P04066	FUCO_HUMAN	Q	376;165	ENSP00000363603:R376Q	ENSP00000363599:R165Q	R	-	2	0	FUCA1	24047759	0.998000	0.40836	0.723000	0.30687	0.413000	0.31143	5.598000	0.67585	1.408000	0.46895	0.644000	0.83932	CGG		0.478	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147		10	20	0	0	0	1	0	10	20					T	24175172	C	T	24175172	3	4	9	1	0	0	0	0	1	0	0	0	6102	652	23	1	285	1	FUCA1	1	24175172	Missense_Mutation	SNP	C	TCGA-N5-A4RS-01A-11D-A28R-08	1189079	24175172	225075449	2	572										
SETDB1	9869	broad.mit.edu	37	chr1	150933180	150933181	+	Frame_Shift_Del	DEL	GT	GT	-													0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	cccctgttcctctgacagcaGtggtgtagacttgaaggacc							TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:150933180_150933181delGT	ENST00000271640.5	+	16	2832_2833	c.2642_2643delGT	c.(2641-2643)agtfs	p.S881fs	SETDB1_ENST00000368969.4_Frame_Shift_Del_p.S881fs|SETDB1_ENST00000459773.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	881	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTGACAGCAGTGGTGTAGACT	0.475																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2641-2643)afs		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.chr1:150933180_150933181delGT	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.2642_2643delGT	1.37:g.150933180_150933181delGT	ENSP00000271640:p.Ser881fs		Somatic				SETDB1_ENST00000368969.4_Frame_Shift_Del_p.S881fs|SETDB1_ENST00000459773.1_3'UTR	p.S881fs	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)		16	2832_2833	+	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)		881			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Frame_Shift_Del	DEL	ENST00000271640.5	37	c.2642_2643delGT	CCDS44217.1																																																																																				0.475	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			28	47						28	47	---	---	---	---	-	150933181	GT	-	150933180	7	5	9	1	0	1	0	1	0	0	0	0	14153	1029	36	0	2700	0	SETDB1	1	150933180	Frame_Shift_Del	DEL	GT	TCGA-N5-A4RS-01A-11D-A28R-08	126758008	150933180	98317441	3	573										
CASQ1	844	broad.mit.edu	37	chr1	160168791	160168791	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	ggctgtggcccaagataacaCtgaaaacccagatcttagca	9	11	1	3			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:160168791C>A	ENST00000368078.3	+	9	1128	c.932C>A	c.(931-933)aCt>aAt	p.T311N	CASQ1_ENST00000467691.1_Missense_Mutation_p.T32N|CASQ1_ENST00000368079.3_Missense_Mutation_p.T305N			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	311					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGATAACACTGAAAACCCA	0.502																																						ENST00000368079.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21						c.(913-915)aCt>aAt		calsequestrin 1 (fast-twitch, skeletal muscle)							159	146	150					1																	160168791		2203	4300	6503	SO:0001583	missense	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160168791C>A	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"Protein disulfide isomerases"	1512	protein-coding gene	gene with protein product	"calsequestrin 1, fast-twitch, skeletal muscle", "calmitine"	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.932C>A	1.37:g.160168791C>A	ENSP00000357057:p.Thr311Asn		Somatic				CASQ1_ENST00000467691.1_Missense_Mutation_p.T32N|CASQ1_ENST00000368078.3_Missense_Mutation_p.T311N	p.T305N	NM_001231.4	NP_001222.3	WXS	Illumina GAIIx	Phase_I	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		9	1189	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		311					B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	ENST00000368078.3	37	c.914C>A	CCDS1198.2	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715162	0.68844	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151;ENST00000467691	T;T;T	0.78481	-1.18;-1.18;-1.18	4.9	4.9	0.64082	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	L	0.53729	1.69	0.80722	D	1	B	0.32031	0.352	B	0.32928	0.155	T	0.72676	-0.4221	10	0.59425	D	0.04	.	16.999	0.86376	0.0:1.0:0.0:0.0	.	311	P31415	CASQ1_HUMAN	N	305;311;226;32	ENSP00000357058:T305N;ENSP00000357057:T311N;ENSP00000418051:T32N	ENSP00000357057:T311N	T	+	2	0	CASQ1	158435415	1.000000	0.71417	0.997000	0.53966	0.905000	0.53344	7.060000	0.76692	2.543000	0.85770	0.563000	0.77884	ACT		0.502	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		19	31	1	0	5.03518e-11	1	6.20616e-11	19	31					A	160168791	C	A	160168791	3	1	9	1	0	0	0	0	1	0	0	0	2682	565	20	5	966	5	CASQ1	1	160168791	Missense_Mutation	SNP	C	TCGA-N5-A4RS-01A-11D-A28R-08	9235611	160168791	89081830	4	574										
C1orf124	83932	broad.mit.edu	37	chr1	231487057	231487057	+	Frame_Shift_Del	DEL	A	A	-													0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	tgtctccactcaggtataccAtacttttcacgatgaggtgg							TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:231487057delA	ENST00000295050.7	+	4	794	c.458delA	c.(457-459)catfs	p.H153fs	SPRTN_ENST00000008440.9_Frame_Shift_Del_p.H110fs|SPRTN_ENST00000391858.4_Frame_Shift_Del_p.H153fs|SPRTN_ENST00000469904.1_3'UTR	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	153	SprT-like.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										CAGGTATACCATACTTTTCAC	0.413																																						ENST00000391858.4																			0											c.(457-459)ctfs		SprT-like N-terminal domain							63	65	65					1																	231487057		2203	4300	6503	SO:0001589	frameshift_variant	83932							g.chr1:231487057delA	AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"SprT-like domain at the N terminus", "DNA damage-targeting VCP (p97) adaptor"		"chromosome 1 open reading frame 124"	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.458delA	1.37:g.231487057delA	ENSP00000295050:p.His153fs		Somatic				SPRTN_ENST00000295050.7_Frame_Shift_Del_p.H153fs|SPRTN_ENST00000469904.1_3'UTR|SPRTN_ENST00000008440.9_Frame_Shift_Del_p.H110fs	p.H153fs			WXS	Illumina GAIIx	Phase_I					4	1738	+								B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Frame_Shift_Del	DEL	ENST00000295050.7	37	c.458delA	CCDS1594.1																																																																																				0.413	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092858.1	NM_032018		19	64						19	64	---	---	---	---	-	231487057	A	-	231487057	7	5	9	1	0	1	0	1	0	0	0	0	1994	217	8	0	472	0	C1orf124	1	231487057	Frame_Shift_Del	DEL	A	TCGA-N5-A4RS-01A-11D-A28R-08	71318266	231487057	17763564	5	575										
ZNF638	27332	broad.mit.edu	37	chr2	71582903	71582903	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	ttgagagctgtcgacagttaCgtcaacagtaagaatatatt	9	6	1	2			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr2:71582903C>A	ENST00000409544.1	+	3	2002	c.1372C>A	c.(1372-1374)Cgt>Agt	p.R458S	ZNF638_ENST00000377802.2_Missense_Mutation_p.R458S|ZNF638_ENST00000264447.4_Missense_Mutation_p.R458S|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Missense_Mutation_p.R458S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	458					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						TCGACAGTTACGTCAACAGTA	0.284																																						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.(1372-1374)Cgt>Agt		zinc finger protein 638							48	44	45					2																	71582903		2199	4286	6485	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71582903C>A	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1372C>A	2.37:g.71582903C>A	ENSP00000386433:p.Arg458Ser		Somatic				ZNF638_ENST00000377802.2_Missense_Mutation_p.R458S|ZNF638_ENST00000355812.3_Missense_Mutation_p.R458S|ZNF638_ENST00000264447.4_Missense_Mutation_p.R458S|ZNF638_ENST00000410075.1_3'UTR	p.R458S	NM_001252612.1	NP_001239541.1	WXS	Illumina GAIIx	Phase_I	Q14966	ZN638_HUMAN			3	2002	+			458					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.1372C>A	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040240	0.35989	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.74421	-0.26;-0.84;0.3;-0.26;1.28;1.28	4.54	1.56	0.23342	.	0.136290	0.46145	U	0.000306	T	0.72120	0.3421	L	0.27053	0.805	0.31976	N	0.606542	D;D;D;D;D	0.71674	0.997;0.997;0.998;0.997;0.997	D;D;D;D;D	0.80764	0.986;0.986;0.994;0.987;0.986	T	0.71241	-0.4651	10	0.59425	D	0.04	-0.4073	4.3069	0.10951	0.1616:0.5903:0.1569:0.0913	.	564;458;458;458;458	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	S	458;564;458;458;458;458	ENSP00000386669:R458S;ENSP00000438189:R564S;ENSP00000348066:R458S;ENSP00000367033:R458S;ENSP00000264447:R458S;ENSP00000386433:R458S	ENSP00000264447:R458S	R	+	1	0	ZNF638	71436411	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	2.605000	0.46283	0.397000	0.25310	0.557000	0.71058	CGT		0.284	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		3	7	1	0	0.115264	1	0.117481	3	7					A	71582903	C	A	71582903	3	1	9	1	0	0	0	0	1	0	0	0	18070	536	19	5	1378	5	ZNF638	2	71582903	Missense_Mutation	SNP	C	TCGA-N5-A4RS-01A-11D-A28R-08		71582903	171616470	6	576										
SLC11A1	6556	broad.mit.edu	37	chr2	219249939	219249939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	gactggctgcacgtctgggcGtggtgacaggcaaggacttg	17	9	1	1			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr2:219249939G>A	ENST00000233202.6	+	4	683	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_5'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	115					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)	p.V115M(2)		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)		ACGTCTGGGCGTGGTGACAGG	0.632																																						ENST00000233202.6																			2	Substitution - Missense(2)	p.V115M(2)	NS(1)|breast(1)	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.(343-345)Gtg>Atg		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							106	99	101					2																	219249939		2203	4300	6503	SO:0001583	missense	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.chr2:219249939G>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.343G>A	2.37:g.219249939G>A	ENSP00000233202:p.Val115Met		Somatic				SLC11A1_ENST00000539932.1_5'UTR|SLC11A1_ENST00000473367.1_3'UTR	p.V115M	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	683	+		Renal(207;0.0474)	115					C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	c.343G>A	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486649	0.84854	.	.	ENSG00000018280	ENST00000233202	T	0.72835	-0.69	5.06	4.19	0.49359	.	0.163454	0.42053	D	0.000765	D	0.84406	0.5465	M	0.86864	2.845	0.80722	D	1	D;D;D	0.71674	0.98;0.995;0.998	P;D;D	0.67548	0.781;0.913;0.952	D	0.87201	0.2241	10	0.72032	D	0.01	-17.6923	13.4754	0.61306	0.0763:0.0:0.9237:0.0	.	115;115;115	Q9HBK0;B4DQ73;P49279	.;.;NRAM1_HUMAN	M	115	ENSP00000233202:V115M	ENSP00000233202:V115M	V	+	1	0	SLC11A1	218958183	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	6.151000	0.71806	1.366000	0.46076	0.549000	0.68633	GTG		0.632	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578		41	112	0	0	0	1	0	41	112					A	219249939	G	A	219249939	3	1	9	1	0	0	0	0	1	0	0	0	14395	1145	40	1	357	1	SLC11A1	2	219249939	Missense_Mutation	SNP	G	TCGA-N5-A4RS-01A-11D-A28R-08	147667036	219249939	23949434	7	577										
TTLL3	26140	broad.mit.edu	37	chr3	9874913	9874913	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	gcagtccctctgctgacccaGcgaggctctggggaaggcaa	14	13	2	1			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr3:9874913G>T	ENST00000547186.1	+	11	1896	c.1680G>T	c.(1678-1680)caG>caT	p.Q560H	TTLL3_ENST00000427853.3_Intron|ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000383827.1_Intron|TTLL3_ENST00000426895.4_Missense_Mutation_p.Q703H|TTLL3_ENST00000397241.1_Intron|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000430793.1_Missense_Mutation_p.Q348H	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	560					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)					TGCTGACCCAGCGAGGCTCTG	0.647																																						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.(1678-1680)caG>caT		tubulin tyrosine ligase-like family, member 3							29	31	30					3																	9874913		1905	4110	6015	SO:0001583	missense	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9874913G>T		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.1680G>T	3.37:g.9874913G>T	ENSP00000446659:p.Gln560His		Somatic				TTLL3_ENST00000426895.4_Missense_Mutation_p.Q703H|TTLL3_ENST00000397241.1_Intron|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000427853.3_Intron|TTLL3_ENST00000430793.1_Missense_Mutation_p.Q348H|ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000383827.1_Intron	p.Q560H	NM_001025930.3	NP_001021100.3	WXS	Illumina GAIIx	Phase_I	Q9Y4R7	TTLL3_HUMAN			11	1896	+	Medulloblastoma(99;0.227)		560					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37	c.1680G>T		.	.	.	.	.	.	.	.	.	.	G	10.51	1.369925	0.24771	.	.	ENSG00000214021	ENST00000426895;ENST00000547186;ENST00000443148;ENST00000430793	T;T;T;T	0.06218	3.49;3.61;3.67;3.33	4.86	2.91	0.33838	.	24.809400	0.04817	U	0.436216	T	0.07593	0.0191	.	.	.	0.09310	N	1	P;B;B	0.36837	0.571;0.0;0.012	B;B;B	0.38056	0.264;0.002;0.004	T	0.36261	-0.9755	9	0.54805	T	0.06	.	7.7101	0.28673	0.093:0.0:0.7352:0.1718	.	499;348;560	B4DM47;Q9Y4R7-5;Q9Y4R7	.;.;TTLL3_HUMAN	H	703;560;498;348	ENSP00000392549:Q703H;ENSP00000446659:Q560H;ENSP00000398097:Q498H;ENSP00000403874:Q348H	ENSP00000392549:Q703H	Q	+	3	2	TTLL3	9849913	0.019000	0.18553	0.322000	0.25334	0.662000	0.39071	1.118000	0.31246	1.274000	0.44362	0.655000	0.94253	CAG		0.647	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		11	23	1	0	4.68919e-08	1	5.52282e-08	11	23					T	9874913	G	T	9874913	3	4	9	1	0	0	0	0	1	0	0	0	16743	962	34	5	1718	5	TTLL3	3	9874913	Missense_Mutation	SNP	G	TCGA-N5-A4RS-01A-11D-A28R-08		9874913	188147517	8	578										
PIK3CA	5290	broad.mit.edu	37	chr3	178921552	178921552	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	tctttgtgcaacctacgtgaAtgtaaatattcgagacattg	8	7	1	2			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr3:178921552A>C	ENST00000263967.3	+	5	1191	c.1034A>C	c.(1033-1035)aAt>aCt	p.N345T		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>aCt		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>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.1034A>C	3.37:g.178921552A>C	ENSP00000263967:p.Asn345Thr	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.N345T	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>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.339775	0.81911	.	.	ENSG00000121879	ENST00000263967	T	0.70282	-0.47	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	D	0.85392	0.5686	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86915	0.2063	10	0.51188	T	0.08	-21.0442	15.721	0.77710	1.0:0.0:0.0:0.0	.	345	P42336	PK3CA_HUMAN	T	345	ENSP00000263967:N345T	ENSP00000263967:N345T	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			19	16	0	0	0	1	0	19	16					C	178921552	A	C	178921552	3	2	9	1	0	0	0	0	1	0	0	0	11922	101	4	4	1048	4	PIK3CA	3	178921552	Missense_Mutation	SNP	A	TCGA-N5-A4RS-01A-11D-A28R-08	169046639	178921552	19100878	9	579										
EPHA5	2044	broad.mit.edu	37	chr4	66218763	66218763	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	ttattccccaatcctaccttCaaaaatgtatctaaagagcc	3	12	2	1			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr4:66218763C>A	ENST00000273854.3	-	13	2895	c.2295G>T	c.(2293-2295)ttG>ttT	p.L765F	EPHA5_ENST00000511294.1_Missense_Mutation_p.L766F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L602F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L743F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	765	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATCCTACCTTCAAAAATGTAT	0.358										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(2293-2295)ttG>ttT		EPH receptor A5							109	99	102					4																	66218763		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.chr4:66218763C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2295G>T	4.37:g.66218763C>A	ENSP00000273854:p.Leu765Phe	TSP Lung(17;0.13)	Somatic				EPHA5_ENST00000511294.1_Missense_Mutation_p.L766F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L743F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L602F	p.L765F	NM_004439.5	NP_004430.4	WXS	Illumina GAIIx	Phase_I	P54756	EPHA5_HUMAN			13	2895	-			765			Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2295G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032552	0.54790	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86	5.73	3.29	0.37713	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.153463	0.30501	N	0.009493	D	0.96116	0.8734	H	0.95816	3.725	0.49915	D	0.999831	D;D;P;D	0.89917	0.957;1.0;0.947;1.0	P;D;P;D	0.97110	0.849;1.0;0.765;1.0	D	0.95006	0.8147	10	0.87932	D	0	.	9.3595	0.38186	0.0:0.2032:0.0:0.7968	.	744;766;743;765	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	F	765;602;743;766	ENSP00000273854:L765F;ENSP00000389208:L602F;ENSP00000346899:L743F;ENSP00000427638:L766F	ENSP00000273854:L765F	L	-	3	2	EPHA5	65901358	0.936000	0.31750	1.000000	0.80357	0.707000	0.40811	-0.001000	0.12947	0.442000	0.26555	-0.385000	0.06624	TTG		0.358	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		9	13	1	0	0.00621372	1	0.00672096	9	13					A	66218763	C	A	66218763	3	1	9	1	0	0	0	0	1	0	0	0	5172	825	29	2	842	2	EPHA5	4	66218763	Missense_Mutation	SNP	C	TCGA-N5-A4RS-01A-11D-A28R-08		66218763	124935513	10	580										
FBXW7	55294	broad.mit.edu	37	chr4	153249384	153249384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	tttcatgaagatgcatacaaCgcacagtggaagtatgccca	9	9	1	2			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr4:153249384C>T	ENST00000281708.4	-	9	2623	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	FBXW7_ENST00000393956.3_Missense_Mutation_p.R289H|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465H|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347H|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385H|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465H	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCATACAACGCACAGTGGA	0.408			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		114	Substitution - Missense(113)|Unknown(1)	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)	haematopoietic_and_lymphoid_tissue(40)|large_intestine(39)|endometrium(24)|lung(5)|ovary(4)|cervix(1)|biliary_tract(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1393-1395)cGt>cAt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							253	218	230					4																	153249384		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249384C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1394G>A	4.37:g.153249384C>T	ENSP00000281708:p.Arg465His		Somatic				FBXW7_ENST00000296555.5_Missense_Mutation_p.R347H|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385H|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465H|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289H|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465H	p.R465H	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			9	2623	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	465		R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1394G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178201	0.94846	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.05	6.05	0.98169	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	0.63827	0.2544	L	0.56124	1.755	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	0.62469	-0.6848	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:1.0:0.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	H	465;347;385;289	ENSP00000281708:R465H;ENSP00000296555:R347H;ENSP00000263981:R385H;ENSP00000377528:R289H	ENSP00000263981:R385H	R	-	2	0	FBXW7	153468834	1.000000	0.71417	0.960000	0.40013	0.996000	0.88848	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CGT		0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			39	58	0	0	0	1	0	39	58					T	153249384	C	T	153249384	3	4	9	1	0	0	0	0	1	0	0	0	5777	536	19	1	745	1	FBXW7	4	153249384	Missense_Mutation	SNP	C	TCGA-N5-A4RS-01A-11D-A28R-08	87030621	153249384	37904892	11	581										
C4orf41	60684	broad.mit.edu	37	chr4	184606530	184606530	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	tggcagcaatattttcacaaTaggagtacaggactttgtgc	10	7	1	0			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr4:184606530T>G	ENST00000334690.6	+	17	1938	c.1736T>G	c.(1735-1737)aTa>aGa	p.I579R	TRAPPC11_ENST00000512476.1_Missense_Mutation_p.I185R|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.I579R	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	579					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											ATTTTCACAATAGGAGTACAG	0.408																																						ENST00000334690.6																			0											c.(1735-1737)aTa>aGa		trafficking protein particle complex 11							143	138	140					4																	184606530		2203	4300	6503	SO:0001583	missense	60684							g.chr4:184606530T>G		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.1736T>G	4.37:g.184606530T>G	ENSP00000335371:p.Ile579Arg		Somatic				TRAPPC11_ENST00000357207.4_Missense_Mutation_p.I579R|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.I185R	p.I579R	NM_021942.5	NP_068761.4	WXS	Illumina GAIIx	Phase_I	Q7Z392	CD041_HUMAN			17	1938	+			579					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	c.1736T>G	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.629430	0.87660	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.59	5.59	0.84812	.	0.076863	0.85682	D	0.000000	T	0.77391	0.4123	M	0.76328	2.33	0.80722	D	1	P;P;P	0.49783	0.928;0.667;0.853	P;P;P	0.60886	0.88;0.635;0.502	T	0.80236	-0.1466	9	0.87932	D	0	.	16.065	0.80865	0.0:0.0:0.0:1.0	.	185;579;579	D6RHE5;Q7Z392;Q7Z392-3	.;TPC11_HUMAN;.	R	579;579;579;185	.	ENSP00000335371:I579R	I	+	2	0	C4orf41	184843524	1.000000	0.71417	0.680000	0.29994	0.997000	0.91878	7.879000	0.87236	2.257000	0.74773	0.460000	0.39030	ATA		0.408	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		47	43	0	0	0	1	0	47	43					G	184606530	T	G	184606530	3	3	9	1	0	0	0	0	1	0	0	0	2272	1406	49	4	1798	4	C4orf41	4	184606530	Missense_Mutation	SNP	T	TCGA-N5-A4RS-01A-11D-A28R-08	31357146	184606530	6547746	12	582										
PIK3R1	5295	broad.mit.edu	37	chr5	67576381	67576382	+	Frame_Shift_Ins	INS	-	-	C													0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	aaagctccgaagaatatattINScagctattgaagaagcttat							TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr5:67576381_67576382insC	ENST00000521381.1	+	6	1276_1277	c.660_661insC	c.(661-663)cagfs	p.Q221fs	PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.Q221fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.Q221fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.Q221fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	221	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AAGAATATATTCAGCTATTGAA	0.351			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(658-663)atagctfs		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001589	frameshift_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67576381_67576382insC	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.661dupC	5.37:g.67576382_67576382dupC	ENSP00000428056:p.Gln221fs	TCGA GBM(4;<1E-08)	Somatic				PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.A221fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.A221fs|PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.A221fs	p.A221fs	NM_181523.2	NP_852664.1	WXS	Illumina GAIIx	Phase_I	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	6	1276_1277	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	221			Rho-GAP.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Ins	INS	ENST00000521381.1	37	c.660_661insC	CCDS3993.1																																																																																				0.351	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		104	90						104	90	---	---	---	---	C	67576382	-	C	67576381	7	5	9	1	0	1	1	0	0	0	0	0	11927	1771	62	0	678	0	PIK3R1	5	67576381	Frame_Shift_Ins	INS	-	TCGA-N5-A4RS-01A-11D-A28R-08		67576381	113338879	13	583										
ANKRD6	22881	broad.mit.edu	37	chr6	90276788	90276788	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	aatgtggttcagctcatcaaCaagggcgccagggtagcggt	14	9	3	0			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr6:90276788C>G	ENST00000522441.1	+	2	734	c.93C>G	c.(91-93)aaC>aaG	p.N31K	ANKRD6_ENST00000447838.2_Missense_Mutation_p.N31K|RP11-16C18.3_ENST00000425588.1_RNA|ANKRD6_ENST00000369408.5_Missense_Mutation_p.N31K|ANKRD6_ENST00000520793.1_Missense_Mutation_p.N31K|ANKRD6_ENST00000520886.2_Intron|RP11-16C18.3_ENST00000438267.1_RNA|ANKRD6_ENST00000339746.4_Missense_Mutation_p.N31K|ANKRD6_ENST00000485637.1_Missense_Mutation_p.N31K	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	31					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AGCTCATCAACAAGGGCGCCA	0.502																																						ENST00000369408.5																			0				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21						c.(91-93)aaC>aaG		ankyrin repeat domain 6							50	50	50					6																	90276788		1951	4143	6094	SO:0001583	missense	22881						protein binding	g.chr6:90276788C>G	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.93C>G	6.37:g.90276788C>G	ENSP00000430985:p.Asn31Lys		Somatic				ANKRD6_ENST00000339746.4_Missense_Mutation_p.N31K|ANKRD6_ENST00000522441.1_Missense_Mutation_p.N31K|ANKRD6_ENST00000485637.1_Missense_Mutation_p.N31K|ANKRD6_ENST00000447838.2_Missense_Mutation_p.N31K|ANKRD6_ENST00000520793.1_Missense_Mutation_p.N31K|ANKRD6_ENST00000520886.2_Intron	p.N31K	NM_001242813.1	NP_001229742.1	WXS	Illumina GAIIx	Phase_I	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	2	442	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	31					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	c.93C>G	CCDS56441.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772402	0.90108	.	.	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000520458;ENST00000465722;ENST00000523798;ENST00000522441;ENST00000522779;ENST00000485637;ENST00000522705;ENST00000518150;ENST00000520793	T;T;T;T;T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;1.06;-0.04;-0.04;-0.04	5.89	5.89	0.94794	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000015	T	0.61073	0.2318	N	0.12611	0.24	0.58432	D	0.999999	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.999;0.999;0.996	T	0.68815	-0.5309	10	0.62326	D	0.03	-26.3483	20.2618	0.98447	0.0:1.0:0.0:0.0	.	31;31;31;31	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.;ANKR6_HUMAN;.;.	K	31	ENSP00000358416:N31K;ENSP00000345767:N31K;ENSP00000396771:N31K;ENSP00000431061:N31K;ENSP00000429431:N31K;ENSP00000428377:N31K;ENSP00000430985:N31K;ENSP00000429337:N31K;ENSP00000430954:N31K;ENSP00000428309:N31K;ENSP00000429782:N31K	ENSP00000345767:N31K	N	+	3	2	ANKRD6	90333507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.412000	0.80091	2.793000	0.96121	0.655000	0.94253	AAC		0.502	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			6	9	0	0	0	1	0	6	9					G	90276788	C	G	90276788	3	3	9	1	0	0	0	0	1	0	0	0	685	477	17	5	95	5	ANKRD6	6	90276788	Missense_Mutation	SNP	C	TCGA-N5-A4RS-01A-11D-A28R-08		90276788	80838279	14	584										
THBS2	7058	broad.mit.edu	37	chr6	169626326	169626326	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	tcacagtgatcccccacaccGtcaccatccgtgtccctctg	6	19	3	1	rs201464524	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr6:169626326G>A	ENST00000366787.3	-	17	2736	c.2487C>T	c.(2485-2487)gaC>gaT	p.D829D	THBS2_ENST00000488355.1_5'Flank|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	829					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCCCCACACCGTCACCATCCG	0.542													G|||	2	0.000399361	0	0	5008	,	,		16034	0.001		0.001	False		,,,				2504	0				Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(2485-2487)gaC>gaT		thrombospondin 2		G		1,4405	2.1+/-5.4	0,1,2202	120	109	113		2487	-6.1	0	6		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	THBS2	NM_003247.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		829/1173	169626326	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169626326G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2487C>T	6.37:g.169626326G>A			Somatic				XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.D829D	NM_003247.2	NP_003238.2	WXS	Illumina GAIIx	Phase_I	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	17	2736	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	829					A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.2487C>T	CCDS34574.1																																																																																				0.542	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		46	49	0	0	0	1	0	46	49					A	169626326	G	A	169626326	2	1	9	1	0	0	0	0	0	0	0	1	15869	1136	40	1		1	THBS2	6	169626326	Silent	SNP	G	TCGA-N5-A4RS-01A-11D-A28R-08	79349538	169626326	1488741	15	585										
PTP4A3	11156	broad.mit.edu	37	chr8	142441037	142441037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	ctcttcccaggaagcgccgcGgagccatcaacagcaagcag	11	15	2	0			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr8:142441037G>A	ENST00000521578.1	+	6	1360	c.415G>A	c.(415-417)Gga>Aga	p.G139R	MROH5_ENST00000430863.1_RNA|PTP4A3_ENST00000524028.1_Missense_Mutation_p.G53R|PTP4A3_ENST00000520105.1_Missense_Mutation_p.G114R|PTP4A3_ENST00000329397.1_Missense_Mutation_p.G139R|PTP4A3_ENST00000349124.1_Missense_Mutation_p.G114R			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	139	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GAAGCGCCGCGGAGCCATCAA	0.597																																						ENST00000520105.1																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(340-342)Gga>Aga		protein tyrosine phosphatase type IVA, member 3							105	89	94					8																	142441037		2201	4299	6500	SO:0001583	missense	11156					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:142441037G>A	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365		ENST00000521578.1:c.415G>A	8.37:g.142441037G>A	ENSP00000428976:p.Gly139Arg		Somatic				PTP4A3_ENST00000524028.1_Missense_Mutation_p.G53R|PTP4A3_ENST00000349124.1_Missense_Mutation_p.G114R|PTP4A3_ENST00000521578.1_Missense_Mutation_p.G139R|PTP4A3_ENST00000329397.1_Missense_Mutation_p.G139R	p.G114R			WXS	Illumina GAIIx	Phase_I	O75365	TP4A3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0474)		5	1283	+	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		139			Tyrosine-protein phosphatase.		Q8IVN5|Q99849|Q9BTW5	Missense_Mutation	SNP	ENST00000521578.1	37	c.340G>A	CCDS6383.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591797	0.86953	.	.	ENSG00000184489	ENST00000521578;ENST00000520105;ENST00000329397;ENST00000349124;ENST00000524028	D;T;D;T	0.84516	-1.86;-0.21;-1.86;-0.21	4.49	4.49	0.54785	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.93719	0.7993	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.97110	1.0;0.956	D	0.94915	0.8068	10	0.72032	D	0.01	-20.2394	16.2738	0.82634	0.0:0.0:1.0:0.0	.	114;139	O75365-2;O75365	.;TP4A3_HUMAN	R	139;114;139;114;53	ENSP00000428976:G139R;ENSP00000428758:G114R;ENSP00000332274:G139R;ENSP00000331730:G114R	ENSP00000332274:G139R	G	+	1	0	PTP4A3	142510219	1.000000	0.71417	0.838000	0.33150	0.745000	0.42441	9.383000	0.97214	2.506000	0.84524	0.555000	0.69702	GGA		0.597	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1	NM_032611		15	17	0	0	0	1	0	15	17					A	142441037	G	A	142441037	3	1	9	1	0	0	0	0	1	0	0	0	12785	1117	39	1	433	1	PTP4A3	8	142441037	Missense_Mutation	SNP	G	TCGA-N5-A4RS-01A-11D-A28R-08		142441037	3922985	16	586										
NFKBIL2	4796	broad.mit.edu	37	chr8	145661426	145661426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	tctgagcactgcccacacccCggatggctgcctggtaggct	12	15	1	1	rs376067225		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr8:145661426C>T	ENST00000409379.3	-	17	2419	c.2390G>A	c.(2389-2391)cGg>cAg	p.R797Q	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	797					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCCCACACCCCGGATGGCTGC	0.726																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(2389-2391)cGg>cAg		tonsoku-like, DNA repair protein							7	10	9					8																	145661426		2155	4240	6395	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145661426C>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2390G>A	8.37:g.145661426C>T	ENSP00000386239:p.Arg797Gln		Somatic				AC084125.4_ENST00000544423.1_RNA	p.R797Q	NM_013432.4	NP_038460.4	WXS	Illumina GAIIx	Phase_I	Q96HA7	TONSL_HUMAN			17	2419	-			797					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.2390G>A	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072184	0.55646	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.53857	0.6	4.16	4.16	0.48862	.	0.000000	0.64402	D	0.000002	T	0.61924	0.2386	L	0.43152	1.355	0.33898	D	0.638143	D	0.89917	1.0	D	0.69654	0.965	T	0.68864	-0.5296	10	0.33141	T	0.24	-1.9754	14.0515	0.64739	0.0:1.0:0.0:0.0	.	797	Q96HA7	TONSL_HUMAN	Q	797;796	ENSP00000386239:R797Q	ENSP00000386239:R797Q	R	-	2	0	TONSL	145632234	0.000000	0.05858	0.785000	0.31869	0.946000	0.59487	0.467000	0.22035	2.158000	0.67659	0.456000	0.33151	CGG		0.726	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		11	2	0	0	0	1	0	11	2					T	145661426	C	T	145661426	3	4	9	1	0	0	0	0	1	0	0	0	10391	652	23	1	1786	1	NFKBIL2	8	145661426	Missense_Mutation	SNP	C	TCGA-N5-A4RS-01A-11D-A28R-08	3220389	145661426	702596	17	587										
TTF1	7270	broad.mit.edu	37	chr9	135251330	135251330	+	Frame_Shift_Del	DEL	A	A	-													0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	tccaccggccttggcctcccAaagtactggaattacaggcg							TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr9:135251330delA	ENST00000334270.2	-	11	2729	c.2690delT	c.(2689-2691)ttgfs	p.L897fs	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	897					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ttggcctcccaaagtactgga	0.483																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2689-2691)tgfs		transcription termination factor, RNA polymerase I							38	37	37					9																	135251330		2203	4300	6503	SO:0001589	frameshift_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135251330delA	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2690delT	9.37:g.135251330delA	ENSP00000333920:p.Leu897fs		Somatic				TTF1_ENST00000461970.1_5'UTR	p.L897fs	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	WXS	Illumina GAIIx	Phase_I	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	11	2729	-		Myeloproliferative disorder(178;0.204)	897					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Frame_Shift_Del	DEL	ENST00000334270.2	37	c.2690delT	CCDS6948.1																																																																																				0.483	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		4	9						4	9	---	---	---	---	-	135251330	A	-	135251330	7	5	9	1	0	1	0	1	0	0	0	0	16733	131	5	0	31	0	TTF1	9	135251330	Frame_Shift_Del	DEL	A	TCGA-N5-A4RS-01A-11D-A28R-08		135251330	5962101	18	588										
AKR1C3	8644	broad.mit.edu	37	chr10	5144364	5144364	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	tcgaaagatattgttctggtTgcctatagtgctctgggatc	11	7	2	1			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr10:5144364T>C	ENST00000380554.3	+	6	1294	c.642T>C	c.(640-642)gtT>gtC	p.V214V	AKR1C3_ENST00000605149.1_Silent_p.V191V|AKR1C3_ENST00000439082.2_Silent_p.V95V	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	214					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	TTGTTCTGGTTGCCTATAGTG	0.383																																						ENST00000380554.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14						c.(640-642)gtT>gtC		aldo-keto reductase family 1, member C3	Dimethyl sulfoxide(DB01093)|NADH(DB00157)						105	97	100					10																	5144364		2203	4300	6503	SO:0001819	synonymous_variant	8644				prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5144364T>C	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"Aldo-keto reductases"	386	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase X", "prostaglandin F synthase", "3-alpha hydroxysteroid dehydrogenase, type II"	603966	"hydroxysteroid (17-beta) dehydrogenase 5", "aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.642T>C	10.37:g.5144364T>C			Somatic				AKR1C3_ENST00000605149.1_Silent_p.V191V|AKR1C3_ENST00000439082.2_Silent_p.V95V	p.V214V	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	WXS	Illumina GAIIx	Phase_I	P42330	AK1C3_HUMAN			6	1294	+			214					A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Silent	SNP	ENST00000380554.3	37	c.642T>C	CCDS7063.1																																																																																				0.383	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739		20	30	0	0	0	1	0	20	30					C	5144364	T	C	5144364	2	2	9	1	0	0	0	0	0	0	0	1	471	1799	63	4		4	AKR1C3	10	5144364	Silent	SNP	T	TCGA-N5-A4RS-01A-11D-A28R-08		5144364	130390383	19	589										
TAF5	6877	broad.mit.edu	37	chr10	105139460	105139460	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	gaaggaaaacctaaaaagaaGaagcctaaaaaagatagtat	8	4	0	3			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr10:105139460G>T	ENST00000369839.3	+	4	1232	c.1209G>T	c.(1207-1209)aaG>aaT	p.K403N	TAF5_ENST00000351396.4_Missense_Mutation_p.K403N	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	403	Poly-Lys.				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)		CTAAAAAGAAGAAGCCTAAAA	0.373																																						ENST00000369839.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15						c.(1207-1209)aaG>aaT		TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa							73	67	69					10																	105139460		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.chr10:105139460G>T	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.1209G>T	10.37:g.105139460G>T	ENSP00000358854:p.Lys403Asn		Somatic				TAF5_ENST00000351396.4_Missense_Mutation_p.K403N	p.K403N	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)	4	1232	+		Colorectal(252;0.0747)|Breast(234;0.128)	403			Poly-Lys.		A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	c.1209G>T	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759501	0.69763	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.60797	0.47;0.16	5.64	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.991	T	0.73861	-0.3849	10	0.41790	T	0.15	-13.9209	7.9891	0.30229	0.2681:0.0:0.7319:0.0	.	403;403	Q15542-2;Q15542	.;TAF5_HUMAN	N	403	ENSP00000358854:K403N;ENSP00000311024:K403N	ENSP00000311024:K403N	K	+	3	2	TAF5	105129450	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.560000	0.45896	1.274000	0.44362	0.655000	0.94253	AAG		0.373	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			14	20	1	0	3.27435e-08	1	3.94411e-08	14	20					T	105139460	G	T	105139460	3	4	9	1	0	0	0	0	1	0	0	0	15543	933	33	2	1223	2	TAF5	10	105139460	Missense_Mutation	SNP	G	TCGA-N5-A4RS-01A-11D-A28R-08	99995096	105139460	30395287	20	590										
PHC1	1911	broad.mit.edu	37	chr12	9075367	9075367	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	ctgctcagtctcctggagttCatgcagatgcagatcaggtt	11	10	4	2			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr12:9075367C>G	ENST00000543824.1	+	7	927	c.595C>G	c.(595-597)Cat>Gat	p.H199D	PHC1_ENST00000433083.2_Missense_Mutation_p.H154D|PHC1_ENST00000544916.1_Missense_Mutation_p.H199D|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000536844.1_5'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	199					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)	p.H199Y(2)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						TCCTGGAGTTCATGCAGATGC	0.592																																						ENST00000433083.2																			2	Substitution - Missense(2)	p.H199Y(2)	skin(2)	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.(460-462)Cat>Gat		polyhomeotic homolog 1 (Drosophila)							108	80	90					12																	9075367		2203	4300	6503	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9075367C>G	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.595C>G	12.37:g.9075367C>G	ENSP00000440674:p.His199Asp		Somatic				PHC1_ENST00000543824.1_Missense_Mutation_p.H199D|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000544916.1_Missense_Mutation_p.H199D	p.H154D			WXS	Illumina GAIIx	Phase_I	P78364	PHC1_HUMAN			5	605	+			199					D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.460C>G	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258090	0.59321	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000539063;ENST00000542346	T;T;T;T	0.23348	1.93;1.93;1.91;1.93	5.66	5.66	0.87406	.	0.153063	0.45361	D	0.000375	T	0.37073	0.0990	L	0.39898	1.24	0.80722	D	1	D;P;P	0.56968	0.978;0.826;0.826	P;P;P	0.56127	0.792;0.608;0.608	T	0.01192	-1.1423	10	0.22706	T	0.39	-20.0773	19.3489	0.94376	0.0:1.0:0.0:0.0	.	199;199;199	B4DF21;P78364;B2RXH1	.;PHC1_HUMAN;.	D	199;199;154;199;141;10	ENSP00000440674:H199D;ENSP00000251757:H199D;ENSP00000399194:H154D;ENSP00000437659:H199D	ENSP00000251757:H199D	H	+	1	0	PHC1	8966634	1.000000	0.71417	0.970000	0.41538	0.994000	0.84299	5.660000	0.68018	2.690000	0.91761	0.655000	0.94253	CAT		0.592	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		9	9	0	0	0	1	0	9	9					G	9075367	C	G	9075367	3	3	9	1	0	0	0	0	1	0	0	0	11825	826	29	2	613	2	PHC1	12	9075367	Missense_Mutation	SNP	C	TCGA-N5-A4RS-01A-11D-A28R-08		9075367	124776528	21	591										
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Tgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic				KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	p.G12C	NM_004985.3	NP_004976.2	WXS	Illumina GAIIx	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		10	3	1	0	2.17888e-05	1	2.51045e-05	10	3					A	25398285	C	A	25398285	3	1	9	1	0	0	0	0	1	0	0	0	8447	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-N5-A4RS-01A-11D-A28R-08	16322918	25398285	108453610	22	592										
NPC2	10577	broad.mit.edu	37	chr14	74951225	74951225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	accatcaggctcaggaatggGaaagggaactgggacgccca	14	10	2	0			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr14:74951225G>A	ENST00000555619.1	-	3	493	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	NPC2_ENST00000434013.2_Missense_Mutation_p.P86S|NPC2_ENST00000541064.1_Missense_Mutation_p.P86S|NPC2_ENST00000557510.1_Missense_Mutation_p.P86S|NPC2_ENST00000238633.2_Missense_Mutation_p.P86S	NM_006432.3	NP_006423.1	P61916	NPC2_HUMAN	Niemann-Pick disease, type C2	86			P -> L (in dbSNP:rs4688).		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)		TCAGGAATGGGAAAGGGAACT	0.433																																					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.(256-258)Ccc>Tcc		Niemann-Pick disease, type C2							156	146	150					14																	74951225		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.chr14:74951225G>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.256C>T	14.37:g.74951225G>A	ENSP00000451112:p.Pro86Ser		Somatic				NPC2_ENST00000238633.2_Missense_Mutation_p.P86S|NPC2_ENST00000434013.2_Missense_Mutation_p.P86S|NPC2_ENST00000557510.1_Missense_Mutation_p.P86S|NPC2_ENST00000555619.1_Missense_Mutation_p.P86S	p.P86S			WXS	Illumina GAIIx	Phase_I	P61916	NPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00149)	3	262	-			86		P -> L (in dbSNP:rs4688).			B4DQV7|Q15668|Q29413	Missense_Mutation	SNP	ENST00000555619.1	37	c.256C>T	CCDS32121.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390049	0.82902	.	.	ENSG00000119655	ENST00000434013;ENST00000541064;ENST00000555619;ENST00000238633;ENST00000553490;ENST00000557510;ENST00000555592	T;T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	6.07	2.05	0.26809	MD-2-related lipid-recognition (3);Immunoglobulin E-set (1);	0.333161	0.36815	N	0.002384	T	0.82051	0.4953	M	0.94021	3.485	0.54753	D	0.999984	P;P	0.50617	0.937;0.937	P;P	0.50590	0.548;0.645	T	0.79969	-0.1579	10	0.39692	T	0.17	-1.5164	7.5694	0.27898	0.062:0.2224:0.6005:0.1151	.	86;86	B4DQV7;P61916	.;NPC2_HUMAN	S	86	ENSP00000412103:P86S;ENSP00000442488:P86S;ENSP00000451112:P86S;ENSP00000238633:P86S;ENSP00000451180:P86S;ENSP00000451206:P86S;ENSP00000450887:P86S	ENSP00000238633:P86S	P	-	1	0	NPC2	74020978	1.000000	0.71417	0.931000	0.37212	0.987000	0.75469	3.297000	0.51810	0.405000	0.25532	0.655000	0.94253	CCC		0.433	NPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412346.1	NM_006432		37	52	0	0	0	1	0	37	52					A	74951225	G	A	74951225	3	1	9	1	0	0	0	0	1	0	0	0	10581	1174	41	3	211	3	NPC2	14	74951225	Missense_Mutation	SNP	G	TCGA-N5-A4RS-01A-11D-A28R-08		74951225	32398315	23	593										
BMF	90427	broad.mit.edu	37	chr15	40398008	40398008	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	gcactcaccataaaagagtcGctggggttcctcagtcaccc	9	14	3	1			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr15:40398008G>A	ENST00000354670.4	-	3	514	c.280C>T	c.(280-282)Cga>Tga	p.R94*	BMF_ENST00000561282.1_Nonsense_Mutation_p.R94*|BMF_ENST00000561360.1_Nonsense_Mutation_p.R94*|BMF_ENST00000397573.1_Nonsense_Mutation_p.R94*|BMF_ENST00000558774.1_Nonsense_Mutation_p.R94*|BMF_ENST00000431415.3_Nonsense_Mutation_p.R94*|BMF_ENST00000559701.1_Nonsense_Mutation_p.R94*|BMF_ENST00000558057.1_5'Flank|BMF_ENST00000220446.4_Nonsense_Mutation_p.R94*	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	94					anoikis (GO:0043276)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|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)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-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;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		TAAAAGAGTCGCTGGGGTTCC	0.577																																						ENST00000354670.4																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6						c.(280-282)Cga>Tga		Bcl2 modifying factor							83	92	89					15																	40398008		2203	4300	6503	SO:0001587	stop_gained	90427				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding	g.chr15:40398008G>A	BC060783	CCDS10052.1, CCDS32196.1, CCDS45223.1	15q14	2014-03-07			ENSG00000104081	ENSG00000104081			24132	protein-coding gene	gene with protein product		606266				11546872	Standard	NM_001003943		Approved	FLJ00065	uc001zkw.4	Q96LC9	OTTHUMG00000129875	ENST00000354670.4:c.280C>T	15.37:g.40398008G>A	ENSP00000346697:p.Arg94*		Somatic				BMF_ENST00000431415.3_Nonsense_Mutation_p.R94*|BMF_ENST00000220446.4_Nonsense_Mutation_p.R94*|BMF_ENST00000558774.1_Nonsense_Mutation_p.R94*|BMF_ENST00000561360.1_Nonsense_Mutation_p.R94*|BMF_ENST00000561282.1_Nonsense_Mutation_p.R94*|BMF_ENST00000559701.1_Nonsense_Mutation_p.R94*|BMF_ENST00000397573.1_Nonsense_Mutation_p.R94*	p.R94*	NM_001003940.1	NP_001003940.1	WXS	Illumina GAIIx	Phase_I	Q96LC9	BMF_HUMAN		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)	3	514	-		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-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)	94					Q2M396|Q6NT30|Q6NT56|Q6P9F6|Q7Z7D4|Q7Z7D5|Q9H7K7	Nonsense_Mutation	SNP	ENST00000354670.4	37	c.280C>T	CCDS10052.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652038	0.88056	.	.	ENSG00000104081	ENST00000354670;ENST00000397573;ENST00000431415;ENST00000220446	.	.	.	5.12	3.15	0.36227	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8454	13.2382	0.59982	0.0:0.0:0.338:0.662	.	.	.	.	X	94	.	ENSP00000220446:R94X	R	-	1	2	BMF	38185300	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.504000	0.45416	0.653000	0.30826	-0.397000	0.06425	CGA		0.577	BMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252119.1	NM_033503		50	71	0	0	0	1	0	50	71					A	40398008	G	A	40398008	4	1	9	1	0	0	0	0	0	1	0	0	1454	1095	38	1	286	1	BMF	15	40398008	Nonsense_Mutation	SNP	G	TCGA-N5-A4RS-01A-11D-A28R-08		40398008	62133384	24	594										
HCN4	10021	broad.mit.edu	37	chr15	73616239	73616239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	tctcctggtagttgaagacgCcggagttgaggtcgtgctgg	16	8	1	3			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr15:73616239C>T	ENST00000261917.3	-	8	3188	c.2195G>A	c.(2194-2196)gGc>gAc	p.G732D		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	732					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTTGAAGACGCCGGAGTTGAG	0.597																																						ENST00000261917.3																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(2194-2196)gGc>gAc		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							73	80	77					15																	73616239		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73616239C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2195G>A	15.37:g.73616239C>T	ENSP00000261917:p.Gly732Asp		Somatic					p.G732D	NM_005477.2	NP_005468.1	WXS	Illumina GAIIx	Phase_I	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3188	-			732					Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.2195G>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687095	0.48097	.	.	ENSG00000138622	ENST00000261917	D	0.92446	-3.04	3.46	3.46	0.39613	.	.	.	.	.	D	0.95586	0.8565	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96013	0.9003	9	0.62326	D	0.03	.	15.125	0.72475	0.0:1.0:0.0:0.0	.	732	Q9Y3Q4	HCN4_HUMAN	D	732	ENSP00000261917:G732D	ENSP00000261917:G732D	G	-	2	0	HCN4	71403292	1.000000	0.71417	0.972000	0.41901	0.679000	0.39708	7.371000	0.79600	1.761000	0.52028	0.313000	0.20887	GGC		0.597	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		22	30	0	0	0	1	0	22	30					T	73616239	C	T	73616239	3	4	9	1	0	0	0	0	1	0	0	0	7008	739	26	3	1420	3	HCN4	15	73616239	Missense_Mutation	SNP	C	TCGA-N5-A4RS-01A-11D-A28R-08	33218231	73616239	28915153	25	595										
MRPS11	64963	broad.mit.edu	37	chr15	89021195	89021195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	aacggctgccgccccaggaaGgctcggaagctgtgatggga	16	11	0	1			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr15:89021195G>A	ENST00000325844.4	+	6	835	c.570G>A	c.(568-570)aaG>aaA	p.K190K	MRPS11_ENST00000353598.6_Silent_p.K157K	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	190					DNA damage response, detection of DNA damage (GO:0042769)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCCCCAGGAAGGCTCGGAAGC	0.587																																						ENST00000325844.4																			0				large_intestine(3)	3						c.(568-570)aaG>aaA		mitochondrial ribosomal protein S11							65	55	59					15																	89021195		2201	4299	6500	SO:0001819	synonymous_variant	64963				DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr15:89021195G>A	AB051349	CCDS10342.1, CCDS10343.1	15q25	2012-09-13			ENSG00000181991	ENSG00000181991		"Mitochondrial ribosomal proteins / small subunits"	14050	protein-coding gene	gene with protein product	"cervical cancer proto-oncogene 2"	611977				11402041	Standard	NM_022839		Approved	FLJ23406, HCC-2, FLJ22512	uc002bml.3	P82912	OTTHUMG00000148678	ENST00000325844.4:c.570G>A	15.37:g.89021195G>A			Somatic				MRPS11_ENST00000353598.6_Silent_p.K157K	p.K190K	NM_022839.3	NP_073750.2	WXS	Illumina GAIIx	Phase_I	P82912	RT11_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		6	835	+	Lung NSC(78;0.203)		190					B2RD52|Q969D7|Q96GI3|Q9BYC3	Silent	SNP	ENST00000325844.4	37	c.570G>A	CCDS10342.1																																																																																				0.587	MRPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309067.2	NM_022839		38	31	0	0	0	1	0	38	31					A	89021195	G	A	89021195	2	1	9	1	0	0	0	0	0	0	0	1	9831	991	35	3		3	MRPS11	15	89021195	Silent	SNP	G	TCGA-N5-A4RS-01A-11D-A28R-08	15404956	89021195	13510197	26	596										
TP53	7157	broad.mit.edu	37	chr17	7578556	7578556	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	tgttgagggcaggggagtacTgtaggaagaggaaggagaca	19	3	0	3			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr17:7578556T>G	ENST00000269305.4	-	5	565		c.e5-2		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_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.?(34)|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)	AGGGGAGTACTGTAGGAAGAG	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"		46	Unknown(34)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(19)|breast(7)|central_nervous_system(4)|ovary(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|oesophagus(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.e5-2	Other conserved DNA damage response genes	tumor protein p53							41	42	41					17																	7578556		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.chr17:7578556T>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.376-2A>C	17.37:g.7578556T>G		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_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_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)	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	.	.	.	.	.	.	.	.	.	.	T	17.25	3.342862	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6026	0.45375	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519281	1.000000	0.71417	0.994000	0.49952	0.902000	0.53008	6.214000	0.72200	2.078000	0.62432	0.533000	0.62120	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	23	3	0	0	0	1	0	23	3					G	7578556	T	G	7578556	5	3	9	1	0	0	0	0	0	0	1	0	16396	1594	55	4	924	4	TP53	17	7578556	Splice_Site	SNP	T	TCGA-N5-A4RS-01A-11D-A28R-08		7578556	73616654	27	597										
ZNF830	91603	broad.mit.edu	37	chr17	33289163	33289164	+	Frame_Shift_Del	DEL	CA	CA	-													0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	cgcacagggcaaggagcactCagtttcctcttcacgggagg							TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr17:33289163_33289164delCA	ENST00000361952.3	+	1	615_616	c.578_579delCA	c.(577-579)tcafs	p.S193fs	CCT6B_ENST00000314144.5_5'Flank|CCT6B_ENST00000436961.3_5'Flank|CCT6B_ENST00000421975.3_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	193					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)				AAGGAGCACTCAGTTTCCTCTT	0.525																																						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.(577-579)tfs		zinc finger protein 830																																				SO:0001589	frameshift_variant	91603				cell division|mitosis	cytoplasm|nucleus	metal ion binding	g.chr17:33289163_33289164delCA	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.578_579delCA	17.37:g.33289163_33289164delCA	ENSP00000354518:p.Ser193fs		Somatic					p.S193fs	NM_052857.3	NP_443089.3	WXS	Illumina GAIIx	Phase_I	Q96NB3	ZN830_HUMAN			1	615_616	+		Ovarian(249;0.17)	193					Q96F60|Q96GZ5|Q9BU38	Frame_Shift_Del	DEL	ENST00000361952.3	37	c.578_579delCA	CCDS32618.1																																																																																				0.525	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1	NM_052857		22	23						22	23	---	---	---	---	-	33289164	CA	-	33289163	7	5	9	1	0	1	0	1	0	0	0	0	18199	838	29	0	580	0	ZNF830	17	33289163	Frame_Shift_Del	DEL	CA	TCGA-N5-A4RS-01A-11D-A28R-08	25710607	33289163	47906047	28	598										
SERPINB2	5055	broad.mit.edu	37	chr18	61570285	61570285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	gaagcatgggcatggaggacGccttcaacaagggacgggcc	16	10	1	0	rs527405738		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr18:61570285G>A	ENST00000299502.4	+	8	1074	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	SERPINB2_ENST00000457692.1_Missense_Mutation_p.A332T	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	332					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	CATGGAGGACGCCTTCAACAA	0.463																																						ENST00000457692.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.(994-996)Gcc>Acc		serpin peptidase inhibitor, clade B (ovalbumin), member 2	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						132	110	117					18																	61570285		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.chr18:61570285G>A	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.994G>A	18.37:g.61570285G>A	ENSP00000299502:p.Ala332Thr		Somatic				SERPINB2_ENST00000299502.4_Missense_Mutation_p.A332T	p.A332T	NM_001143818.1	NP_001137290.1	WXS	Illumina GAIIx	Phase_I	P05120	PAI2_HUMAN			9	1327	+		Esophageal squamous(42;0.131)	332					Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	c.994G>A	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870270	0.91587	.	.	ENSG00000197632	ENST00000299502;ENST00000457692	D;D	0.85773	-2.03;-2.03	5.64	5.64	0.86602	Serpin domain (3);	0.049577	0.85682	D	0.000000	D	0.94345	0.8182	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.94962	0.8109	10	0.72032	D	0.01	.	19.0463	0.93020	0.0:0.0:1.0:0.0	.	332	P05120	PAI2_HUMAN	T	332	ENSP00000299502:A332T;ENSP00000401645:A332T	ENSP00000299502:A332T	A	+	1	0	SERPINB2	59721265	1.000000	0.71417	0.993000	0.49108	0.512000	0.34134	6.691000	0.74573	2.812000	0.96745	0.557000	0.71058	GCC		0.463	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		22	33	0	0	0	1	0	22	33					A	61570285	G	A	61570285	3	1	9	1	0	0	0	0	1	0	0	0	14116	1087	38	1	1020	1	SERPINB2	18	61570285	Missense_Mutation	SNP	G	TCGA-N5-A4RS-01A-11D-A28R-08		61570285	16506963	29	599										
ATP4A	495	broad.mit.edu	37	chr19	36046394	36046394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	tctgctgggggctggtgcgcGcaaacaccatctcggggtgg	17	11	2	0			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr19:36046394G>A	ENST00000262623.3	-	14	2133	c.2105C>T	c.(2104-2106)gCg>gTg	p.A702V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	702					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)	GCTGGTGCGCGCAAACACCAT	0.662																																						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.(2104-2106)gCg>gTg		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						34	35	34					19																	36046394		2203	4298	6501	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36046394G>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.2105C>T	19.37:g.36046394G>A	ENSP00000262623:p.Ala702Val		Somatic					p.A702V	NM_000704.2	NP_000695.2	WXS	Illumina GAIIx	Phase_I	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		14	2133	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		702					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.2105C>T	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783707	0.90282	.	.	ENSG00000105675	ENST00000262623	D	0.97772	-4.53	4.87	4.87	0.63330	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.076402	0.49305	D	0.000144	D	0.99266	0.9744	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98548	1.0635	10	0.87932	D	0	.	15.5367	0.76007	0.0:0.0:1.0:0.0	.	702	P20648	ATP4A_HUMAN	V	702	ENSP00000262623:A702V	ENSP00000262623:A702V	A	-	2	0	ATP4A	40738234	1.000000	0.71417	0.897000	0.35233	0.826000	0.46750	9.657000	0.98554	2.537000	0.85549	0.462000	0.41574	GCG		0.662	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		5	163	0	0	0	1	0	5	163					A	36046394	G	A	36046394	3	1	9	1	0	0	0	0	1	0	0	0	1145	1087	38	1	1038	1	ATP4A	19	36046394	Missense_Mutation	SNP	G	TCGA-N5-A4RS-01A-11D-A28R-08		36046394	23082589	30	600										
JAG1	182	broad.mit.edu	37	chr20	10653632	10653635	+	Frame_Shift_Del	DEL	AACT	AACT	-													0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	tggacaggatctccaactcgAactgacccgaggccccacac							TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr20:10653632_10653635delAACT	ENST00000254958.5	-	2	616_619	c.101_104delAGTT	c.(100-105)cagttcfs	p.QF34fs	RP11-103J8.1_ENST00000605292.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	34					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						CTCCAACTCGAACTGACCCGAGGC	0.642									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.(100-105)ccfs		jagged 1																																				SO:0001589	frameshift_variant	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.chr20:10653632_10653635delAACT	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.101_104delAGTT	20.37:g.10653632_10653635delAACT	ENSP00000254958:p.Gln34fs		Somatic				RP11-103J8.1_ENST00000605292.1_RNA	p.QF34fs	NM_000214.2	NP_000205.1	WXS	Illumina GAIIx	Phase_I	P78504	JAG1_HUMAN			2	616_619	-			34					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Frame_Shift_Del	DEL	ENST00000254958.5	37	c.101_104delAGTT	CCDS13112.1																																																																																				0.642	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		22	62						22	62	---	---	---	---	-	10653635	AACT	-	10653632	7	5	9	1	0	1	0	1	0	0	0	0	7943	246	9	0	3652	0	JAG1	20	10653632	Frame_Shift_Del	DEL	AACT	TCGA-N5-A4RS-01A-11D-A28R-08		10653632	52371888	31	601										
DLGAP4	22839	broad.mit.edu	37	chr20	35061024	35061024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	ccactctgaccctcagccacGcccacgaggtctgccagaag	9	18	3	2			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr20:35061024G>A	ENST00000373907.2	+	2	1103	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	DLGAP4_ENST00000401952.2_Missense_Mutation_p.A302T|DLGAP4_ENST00000339266.5_Missense_Mutation_p.A302T|DLGAP4_ENST00000373913.3_Missense_Mutation_p.A302T			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	302					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)				CCTCAGCCACGCCCACGAGGT	0.637																																						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.(904-906)Gcc>Acc		discs, large (Drosophila) homolog-associated protein 4							24	27	26					20																	35061024		2203	4299	6502	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35061024G>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.904G>A	20.37:g.35061024G>A	ENSP00000363014:p.Ala302Thr		Somatic				DLGAP4_ENST00000339266.5_Missense_Mutation_p.A302T|DLGAP4_ENST00000373907.2_Missense_Mutation_p.A302T|DLGAP4_ENST00000401952.2_Missense_Mutation_p.A302T	p.A302T			WXS	Illumina GAIIx	Phase_I	Q9Y2H0	DLGP4_HUMAN			3	1384	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	302					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.904G>A		.	.	.	.	.	.	.	.	.	.	G	14.31	2.496385	0.44352	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.27	4.3	0.51218	.	0.174840	0.50627	N	0.000104	T	0.36936	0.0985	M	0.62154	1.92	0.45528	D	0.998485	B	0.20459	0.045	B	0.12837	0.008	T	0.23726	-1.0180	10	0.56958	D	0.05	.	13.2367	0.59972	0.0775:0.0:0.9225:0.0	.	302	Q9Y2H0-1	.	T	302	ENSP00000363023:A302T;ENSP00000384954:A302T;ENSP00000363014:A302T;ENSP00000341633:A302T	ENSP00000341633:A302T	A	+	1	0	DLGAP4	34494438	1.000000	0.71417	0.932000	0.37286	0.919000	0.55068	3.930000	0.56522	1.210000	0.43336	0.561000	0.74099	GCC		0.637	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		4	17	0	0	0	1	0	4	17					A	35061024	G	A	35061024	3	1	9	1	0	0	0	0	1	0	0	0	4564	1087	38	1	906	1	DLGAP4	20	35061024	Missense_Mutation	SNP	G	TCGA-N5-A4RS-01A-11D-A28R-08	24407392	35061024	27964496	32	602										
POTED	317754	broad.mit.edu	37	chr21	14982927	14982927	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	tggggagactacgaccacagCgccttcatggagccgaggta	14	11	1	1			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr21:14982927C>T	ENST00000299443.5	+	1	430	c.378C>T	c.(376-378)agC>agT	p.S126S		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	126						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						ACGACCACAGCGCCTTCATGG	0.597																																						ENST00000299443.5																			0				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						c.(376-378)agC>agT		POTE ankyrin domain family, member D							35	54	50					21																	14982927		829	3156	3985	SO:0001819	synonymous_variant	317754					plasma membrane		g.chr21:14982927C>T	AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	23822	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 1"	607549	"ankyrin repeat domain 21", "ANKRD26-like family B, member 3"	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.378C>T	21.37:g.14982927C>T			Somatic					p.S126S	NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	WXS	Illumina GAIIx	Phase_I	Q86YR6	POTED_HUMAN			1	430	+			126					C9JCF7	Silent	SNP	ENST00000299443.5	37	c.378C>T	CCDS13562.1																																																																																				0.597	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		50	89	0	0	0	1	0	50	89					T	14982927	C	T	14982927	2	4	9	1	0	0	0	0	0	0	0	1	12272	767	27	1		1	POTED	21	14982927	Silent	SNP	C	TCGA-N5-A4RS-01A-11D-A28R-08		14982927	33146968	33	603										
POTED	317754	broad.mit.edu	37	chr21	15011886	15011886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	ttctgaagaacagaacactgGaatatcacaagatgagattc	8	7	2	5	rs562875736	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr21:15011886G>A	ENST00000299443.5	+	10	1512	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	487						plasma membrane (GO:0005886)		p.G487E(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CAGAACACTGGAATATCACAA	0.323													g|||	225	0.0449281	0.1067	0.0101	5008	,	,		5566	0.0486		0.0189	False		,,,				2504	0.0092					ENST00000299443.5																			1	Substitution - Missense(1)	p.G487E(1)	prostate(1)	central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						c.(1459-1461)gGa>gAa		POTE ankyrin domain family, member D							9	15	13					21																	15011886		951	3208	4159	SO:0001583	missense	317754					plasma membrane		g.chr21:15011886G>A	AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	23822	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 1"	607549	"ankyrin repeat domain 21", "ANKRD26-like family B, member 3"	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1460G>A	21.37:g.15011886G>A	ENSP00000299443:p.Gly487Glu		Somatic					p.G487E	NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	WXS	Illumina GAIIx	Phase_I	Q86YR6	POTED_HUMAN			10	1512	+			487					C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	c.1460G>A	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.214319	0.00289	.	.	ENSG00000166351	ENST00000299443	T	0.23950	1.88	1.71	0.761	0.18448	.	.	.	.	.	T	0.11067	0.0270	L	0.40543	1.245	0.09310	N	1	P	0.41232	0.743	B	0.26693	0.072	T	0.20273	-1.0280	9	0.06099	T	0.92	.	4.2377	0.10634	0.2306:0.0:0.7694:0.0	.	487	Q86YR6	POTED_HUMAN	E	487	ENSP00000299443:G487E	ENSP00000299443:G487E	G	+	2	0	POTED	13933757	0.998000	0.40836	0.007000	0.13788	0.000000	0.00434	3.609000	0.54117	0.082000	0.17018	-0.489000	0.04712	GGA		0.323	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		3	30	0	0	0	1	0	3	30					A	15011886	G	A	15011886	3	1	9	1	0	0	0	0	1	0	0	0	12272	1174	41	3	1498	3	POTED	21	15011886	Missense_Mutation	SNP	G	TCGA-N5-A4RS-01A-11D-A28R-08	28959	15011886	33118009	34	604										
SREBF2	6721	broad.mit.edu	37	chr22	42299024	42299024	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	ctgtcgctacggacagcgctCtggcaaaaacaggccagtgc	12	13	1	0			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr22:42299024C>T	ENST00000361204.4	+	17	3124	c.2958C>T	c.(2956-2958)ctC>ctT	p.L986L	SREBF2_ENST00000491541.1_3'UTR|MIR33A_ENST00000385197.1_RNA	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	986					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)			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						GGACAGCGCTCTGGCAAAAAC	0.657																																						ENST00000361204.4																			0				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.(2956-2958)ctC>ctT		sterol regulatory element binding transcription factor 2							33	27	29					22																	42299024		2203	4299	6502	SO:0001819	synonymous_variant	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42299024C>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.2958C>T	22.37:g.42299024C>T			Somatic				SREBF2_ENST00000491541.1_3'UTR	p.L986L	NM_004599.2	NP_004590.2	WXS	Illumina GAIIx	Phase_I	Q12772	SRBP2_HUMAN			17	3124	+			986					Q05BD5|Q6GTH7|Q86V36|Q9UH04	Silent	SNP	ENST00000361204.4	37	c.2958C>T	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	C	6.851	0.526289	0.13066	.	.	ENSG00000198911	ENST00000435061	.	.	.	5.65	0.928	0.19443	.	.	.	.	.	T	0.44222	0.1283	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23511	-1.0186	4	.	.	.	-13.1124	3.3458	0.07134	0.1065:0.3274:0.3976:0.1685	.	.	.	.	F	109	.	.	S	+	2	0	SREBF2	40628970	0.981000	0.34729	0.994000	0.49952	0.602000	0.36980	0.163000	0.16520	0.334000	0.23590	0.650000	0.86243	TCT		0.657	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		4	0	0	0	0	1	0	4	0					T	42299024	C	T	42299024	2	4	9	1	0	0	0	0	0	0	0	1	15157	900	32	3		3	SREBF2	22	42299024	Silent	SNP	C	TCGA-N5-A4RS-01A-11D-A28R-08		42299024	9005542	35	605										
AMOT	154796	broad.mit.edu	37	chrX	112022454	112022454	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	gccggagctggaactggagcCggagcagctggagcaacctg	17	11	0	0			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chrX:112022454C>T	ENST00000524145.1	-	11	3002	c.2928G>A	c.(2926-2928)ccG>ccA	p.P976P	AMOT_ENST00000371959.3_Silent_p.P976P|AMOT_ENST00000371962.1_Silent_p.P744P|AMOT_ENST00000304758.1_Silent_p.P567P|MIR4329_ENST00000582643.1_RNA			Q4VCS5	AMOT_HUMAN	angiomotin	976					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						GAACTGGAGCCGGAGCAGCTG	0.627																																						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.(2926-2928)ccG>ccA		angiomotin							22	22	22					X																	112022454		2197	4295	6492	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112022454C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2928G>A	X.37:g.112022454C>T			Somatic				AMOT_ENST00000304758.1_Silent_p.P567P|AMOT_ENST00000524145.1_Silent_p.P976P|AMOT_ENST00000371962.1_Silent_p.P744P	p.P976P	NM_001113490.1	NP_001106962.1	WXS	Illumina GAIIx	Phase_I	Q4VCS5	AMOT_HUMAN			10	2927	-			976					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.2928G>A	CCDS48154.1																																																																																				0.627	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		9	8	0	0	0	1	0	9	8					T	112022454	C	T	112022454	2	4	9	1	0	0	0	0	0	0	0	1	582	639	23	1		1	AMOT	23	112022454	Silent	SNP	C	TCGA-N5-A4RS-01A-11D-A28R-08		112022454	43248106	36	606										
ZIC3	7547	broad.mit.edu	37	chrX	136649210	136649210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	tcaacgcgcgagtttctgttCcgccagcgcagctccgggct	12	15	2	0			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chrX:136649210C>A	ENST00000287538.5	+	1	910	c.360C>A	c.(358-360)ttC>ttA	p.F120L	ZIC3_ENST00000370606.3_Missense_Mutation_p.F120L|RP1-137H15.2_ENST00000442841.1_RNA	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	120					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)					AGTTTCTGTTCCGCCAGCGCA	0.677																																						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.(358-360)ttC>ttA		Zic family member 3							8	8	8					X																	136649210		2095	4055	6150	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:136649210C>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.360C>A	X.37:g.136649210C>A	ENSP00000287538:p.Phe120Leu		Somatic				ZIC3_ENST00000370606.3_Missense_Mutation_p.F120L	p.F120L	NM_003413.3	NP_003404.1	WXS	Illumina GAIIx	Phase_I	O60481	ZIC3_HUMAN			1	910	+	Acute lymphoblastic leukemia(192;0.000127)		120					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.360C>A	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	c	9.532	1.111108	0.20714	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.51071	0.72;0.72	4.47	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.26919	0.0659	N	0.20986	0.625	0.51233	D	0.999912	B	0.14012	0.009	B	0.08055	0.003	T	0.05716	-1.0868	10	0.08837	T	0.75	.	7.2667	0.26234	0.0:0.7909:0.0:0.2091	.	120	O60481	ZIC3_HUMAN	L	120	ENSP00000287538:F120L;ENSP00000359638:F120L	ENSP00000287538:F120L	F	+	3	2	ZIC3	136476876	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.906000	0.39887	0.895000	0.36342	0.597000	0.82753	TTC		0.677	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			4	2	1	0	0.00909568	1	0.00964142	4	2					A	136649210	C	A	136649210	3	1	9	1	0	0	0	0	1	0	0	0	17695	854	30	2	362	2	ZIC3	23	136649210	Missense_Mutation	SNP	C	TCGA-N5-A4RS-01A-11D-A28R-08	24626756	136649210	18621350	37	607										
L1CAM	3897	broad.mit.edu	37	chrX	153131272	153131272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0526315789473684	2	1	0.819727891156463	4.30357142857143	0.453007518796992	1	1	0	cagctcagggattgcctgggGgtctggaaaccaccagtgac	14	11	2	1			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chrX:153131272G>A	ENST00000370060.1	-	20	2623	c.2434C>T	c.(2434-2436)Ccc>Tcc	p.P812S	L1CAM_ENST00000361699.4_Missense_Mutation_p.P812S|L1CAM_ENST00000538883.1_Missense_Mutation_p.P814S|L1CAM_ENST00000543994.1_Missense_Mutation_p.P814S|L1CAM_ENST00000370055.1_Missense_Mutation_p.P807S|L1CAM_ENST00000361981.3_Missense_Mutation_p.P807S|L1CAM_ENST00000370057.3_Missense_Mutation_p.P812S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	812					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)					ATTGCCTGGGGGTCTGGAAAC	0.592																																						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.(2434-2436)Ccc>Tcc		L1 cell adhesion molecule							65	60	62					X																	153131272		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153131272G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2434C>T	X.37:g.153131272G>A	ENSP00000359077:p.Pro812Ser		Somatic				L1CAM_ENST00000370057.3_Missense_Mutation_p.P812S|L1CAM_ENST00000361699.4_Missense_Mutation_p.P812S|L1CAM_ENST00000543994.1_Missense_Mutation_p.P814S|L1CAM_ENST00000538883.1_Missense_Mutation_p.P814S|L1CAM_ENST00000370055.1_Missense_Mutation_p.P807S|L1CAM_ENST00000361981.3_Missense_Mutation_p.P807S	p.P812S	NM_001278116.1	NP_001265045.1	WXS	Illumina GAIIx	Phase_I	P32004	L1CAM_HUMAN			20	2623	-	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)		812			Fibronectin type-III 3.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2434C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470453	0.43942	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.74526	-0.84;-0.85;-0.84;-0.84;-0.79;-0.79;-0.83	3.81	3.81	0.43845	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.113654	0.37577	N	0.002026	D	0.88901	0.6563	H	0.94620	3.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91481	0.5204	10	0.87932	D	0	.	12.4702	0.55783	0.0:0.0:1.0:0.0	.	807;812;812	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	S	812;814;812;814;807;807;812	ENSP00000359077:P812S;ENSP00000438430:P814S;ENSP00000359074:P812S;ENSP00000439645:P814S;ENSP00000354712:P807S;ENSP00000359072:P807S;ENSP00000355380:P812S	ENSP00000355380:P812S	P	-	1	0	L1CAM	152784466	1.000000	0.71417	0.752000	0.31206	0.043000	0.13939	6.316000	0.72857	1.879000	0.54435	0.436000	0.28706	CCC		0.592	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		50	55	0	0	0	1	0	50	55					A	153131272	G	A	153131272	3	1	9	1	0	0	0	0	1	0	0	0	8597	1232	43	3	1379	3	L1CAM	23	153131272	Missense_Mutation	SNP	G	TCGA-N5-A4RS-01A-11D-A28R-08	16482062	153131272	2139288	38	608										
ALDH4A1	8659	broad.mit.edu	37	chr1	19200974	19200974	+	Missense_Mutation	SNP	C	C	A													0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	caccagaggctcgggcccccCcaaagggctgctggcccact					rs200711248		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:19200974C>A	ENST00000375341.3	-	14	1819	c.1562G>T	c.(1561-1563)gGg>gTg	p.G521V	ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G521V|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G470V|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G461V|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	521					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGGCCCCCCCAAAGGGCTG	0.607																																						ENST00000375341.3																			0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15						c.(1561-1563)gGg>gTg		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)						73	71	72					1																	19200974		2203	4300	6503	SO:0001583	missense	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19200974C>A	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1562G>T	1.37:g.19200974C>A	ENSP00000364490:p.Gly521Val		Somatic				RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G521V|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G470V|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G461V	p.G521V	NM_003748.3	NP_003739.2	WXS	Illumina GAIIx	Phase_I	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	14	1819	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	521					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	c.1562G>T	CCDS188.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776010	0.90195	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.42	5.42	0.78866	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.77471	0.4135	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83996	0.0340	10	0.87932	D	0	-38.9277	15.9436	0.79776	0.0:1.0:0.0:0.0	.	521	P30038	AL4A1_HUMAN	V	521;521;470;461	ENSP00000290597:G521V;ENSP00000364490:G521V;ENSP00000446071:G470V;ENSP00000442988:G461V	ENSP00000290597:G521V	G	-	2	0	ALDH4A1	19073561	1.000000	0.71417	0.994000	0.49952	0.945000	0.59286	7.491000	0.81471	2.539000	0.85634	0.561000	0.74099	GGG		0.607	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			7	91	1	0	2.7689e-08	1	3.19333e-08	7	91					A	19200974	C	A	19200974	3	1	10	1	0	0	0	0	1	0	0	0	501	623	22	5	137	5	ALDH4A1	1	19200974	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08		19200974	230049647	1	609	2	2								
ALDH4A1	8659	broad.mit.edu	37	chr1	19200975	19200975	+	Missense_Mutation	SNP	C	C	A													0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	accagaggctcgggccccccCaaagggctgctggcccacta							TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:19200975C>A	ENST00000375341.3	-	14	1818	c.1561G>T	c.(1561-1563)Ggg>Tgg	p.G521W	ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G521W|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G470W|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G461W|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	521					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGCCCCCCCAAAGGGCTGC	0.612																																						ENST00000375341.3																			0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15	GRCh37	CI983029	ALDH4A1	I		c.(1561-1563)Ggg>Tgg		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)						73	71	72					1																	19200975		2203	4300	6503	SO:0001583	missense	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19200975C>A	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1561G>T	1.37:g.19200975C>A	ENSP00000364490:p.Gly521Trp		Somatic				RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G521W|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G470W|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G461W	p.G521W	NM_003748.3	NP_003739.2	WXS	Illumina GAIIx	Phase_I	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	14	1818	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	521					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	c.1561G>T	CCDS188.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676403	0.88445	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.42	5.42	0.78866	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.81635	0.4864	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88965	0.3396	10	0.87932	D	0	-38.9277	15.9436	0.79776	0.0:1.0:0.0:0.0	.	521	P30038	AL4A1_HUMAN	W	521;521;470;461	ENSP00000290597:G521W;ENSP00000364490:G521W;ENSP00000446071:G470W;ENSP00000442988:G461W	ENSP00000290597:G521W	G	-	1	0	ALDH4A1	19073562	1.000000	0.71417	0.958000	0.39756	0.943000	0.58893	7.491000	0.81471	2.539000	0.85634	0.561000	0.74099	GGG		0.612	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			8	92	1	0	1.06961e-07	1	1.22463e-07	8	92					A	19200975	C	A	19200975	3	1	10	1	0	0	0	0	1	0	0	0	501	594	21	5	138	5	ALDH4A1	1	19200975	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	1	19200975	230049646	2	610	2	2								
LYPLA2	11313	broad.mit.edu	37	chr1	24121215	24121218	+	Frame_Shift_Del	DEL	CTGT	CTGT	-													0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	tcttgagaagctgctgcctcCtgtctaactagtcgctggcc							TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:24121215_24121218delCTGT	ENST00000374514.3	+	10	996_999	c.689_692delCTGT	c.(688-693)cctgtcfs	p.PV230fs	LYPLA2_ENST00000374505.2_3'UTR|LYPLA2_ENST00000374502.3_3'UTR|LYPLA2_ENST00000400061.1_3'UTR|LYPLA2_ENST00000374503.3_3'UTR|LYPLA2_ENST00000374501.1_Frame_Shift_Del_p.PV163fs|LYPLA2_ENST00000495365.1_3'UTR	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	230					fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CTGCTGCCTCCTGTCTAACTAGTC	0.593																																						ENST00000374514.3																			0				endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(688-693)ccfs		lysophospholipase II																																				SO:0001589	frameshift_variant	11313				fatty acid metabolic process	cytoplasm	hydrolase activity	g.chr1:24121215_24121218delCTGT	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961	ENST00000374514.3:c.689_692delCTGT	1.37:g.24121215_24121218delCTGT	ENSP00000363638:p.Pro230fs		Somatic				LYPLA2_ENST00000374505.2_3'UTR|LYPLA2_ENST00000374503.3_3'UTR|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374501.1_Frame_Shift_Del_p.PV163fs|LYPLA2_ENST00000400061.1_3'UTR|LYPLA2_ENST00000374502.3_3'UTR	p.PV230fs	NM_007260.2	NP_009191.1	WXS	Illumina GAIIx	Phase_I	O95372	LYPA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	10	996_999	+		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	230					Q7Z4Z2	Frame_Shift_Del	DEL	ENST00000374514.3	37	c.689_692delCTGT	CCDS241.1																																																																																				0.593	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			8	24						8	24	---	---	---	---	-	24121218	CTGT	-	24121215	7	5	10	1	0	1	0	1	0	0	0	0	9126	681	24	0	723	0	LYPLA2	1	24121215	Frame_Shift_Del	DEL	CTGT	TCGA-N5-A4RT-01A-11D-A28R-08	4920240	24121215	225129406	3	611										
ZNF683	257101	broad.mit.edu	37	chr1	26691433	26691433	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ataggtgaacaggtggggtgGaggcaggagaagtgggtatc	20	3	0	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:26691433G>T	ENST00000436292.1	-	4	724	c.604C>A	c.(604-606)Cca>Aca	p.P202T	ZNF683_ENST00000403843.1_Missense_Mutation_p.P202T|ZNF683_ENST00000374204.1_Missense_Mutation_p.P202T|ZNF683_ENST00000349618.3_Missense_Mutation_p.P202T			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	202					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGGTGGGGTGGAGGCAGGAGA	0.602																																						ENST00000436292.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(604-606)Cca>Aca		zinc finger protein 683							75	74	74					1																	26691433		2203	4300	6503	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26691433G>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"Zinc fingers, C2H2-type"	28495	protein-coding gene	gene with protein product	"hypothetical protein MGC33414"					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.604C>A	1.37:g.26691433G>T	ENSP00000388792:p.Pro202Thr		Somatic				ZNF683_ENST00000403843.1_Missense_Mutation_p.P202T|ZNF683_ENST00000374204.1_Missense_Mutation_p.P202T|ZNF683_ENST00000349618.3_Missense_Mutation_p.P202T	p.P202T			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	724	-		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)	202					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.604C>A		.	.	.	.	.	.	.	.	.	.	G	14.89	2.671731	0.47781	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900;ENST00000451801;ENST00000454975	T;T;T;T;T;T;T	0.34859	2.91;2.91;2.83;2.83;2.12;2.12;1.34	4.5	1.32	0.21799	.	0.337381	0.21806	N	0.068842	T	0.14356	0.0347	N	0.19112	0.55	0.09310	N	1	P;P	0.40731	0.617;0.728	B;B	0.33960	0.173;0.084	T	0.13229	-1.0517	10	0.12430	T	0.62	-0.837	3.6851	0.08326	0.2358:0.2088:0.5554:0.0	.	202;202	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	T	202;202;202;202;210;202;152	ENSP00000384782:P202T;ENSP00000388792:P202T;ENSP00000363320:P202T;ENSP00000344095:P202T;ENSP00000411289:P210T;ENSP00000411290:P202T;ENSP00000412881:P152T	ENSP00000344095:P202T	P	-	1	0	ZNF683	26564020	0.134000	0.22483	0.252000	0.24328	0.751000	0.42716	0.814000	0.27239	0.525000	0.28522	0.561000	0.74099	CCA		0.602	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		14	37	1	0	1.49906e-05	1	1.6798e-05	14	37					T	26691433	G	T	26691433	3	4	10	1	0	0	0	0	1	0	0	0	18105	1174	41	2	922	2	ZNF683	1	26691433	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	2570218	26691433	222559188	4	612										
SFPQ	6421	broad.mit.edu	37	chr1	35652661	35652661	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	tggaacgccaggattagcttCataacctatgccaccaccac	7	14	1	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:35652661C>T	ENST00000357214.5	-	9	2025	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	643					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGATTAGCTTCATAACCTATG	0.463			T	TFE3	papillary renal cell																																	ENST00000357214.5				Dom	yes		1	1p34.3	6421	T	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)			E	TFE3		papillary renal cell	SFPQ/TFE3(6)	0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1927-1929)Gaa>Aaa		splicing factor proline/glutamine-rich							111	104	106					1																	35652661		2203	4300	6503	SO:0001583	missense	6421				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr1:35652661C>T	X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"RNA binding motif (RRM) containing"	10774	protein-coding gene	gene with protein product	"polypyrimidine tract binding protein associated", "protein phosphatase 1, regulatory subunit 140"	605199	"splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1927G>A	1.37:g.35652661C>T	ENSP00000349748:p.Glu643Lys		Somatic					p.E643K	NM_005066.2	NP_005057.1	WXS	Illumina GAIIx	Phase_I	P23246	SFPQ_HUMAN			9	2025	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	643					P30808|Q5SZ71	Missense_Mutation	SNP	ENST00000357214.5	37	c.1927G>A	CCDS388.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957567	0.92726	.	.	ENSG00000116560	ENST00000357214	T	0.25085	1.82	5.92	5.92	0.95590	.	0.168198	0.56097	D	0.000023	T	0.45418	0.1341	L	0.43152	1.355	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.04333	-1.0959	10	0.32370	T	0.25	-21.2531	20.3081	0.98638	0.0:1.0:0.0:0.0	.	643	P23246	SFPQ_HUMAN	K	643	ENSP00000349748:E643K	ENSP00000349748:E643K	E	-	1	0	SFPQ	35425248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.419000	0.59835	2.795000	0.96236	0.655000	0.94253	GAA		0.463	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066		17	86	0	0	0	1	0	17	86					T	35652661	C	T	35652661	3	4	10	1	0	0	0	0	1	0	0	0	14175	835	29	3	204	3	SFPQ	1	35652661	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	8961228	35652661	213597960	5	613										
SMCP	4184	broad.mit.edu	37	chr1	152857173	152857173	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ggagtctgagcccaactcacCgcaaactcaggacaagggct	11	13	3	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:152857173C>G	ENST00000368765.3	+	2	425	c.275C>G	c.(274-276)cCg>cGg	p.P92R		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	92					penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)		p.P92L(1)		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)			CCCAACTCACCGCAAACTCAG	0.532																																						ENST00000368765.3																			1	Substitution - Missense(1)	p.P92L(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8						c.(274-276)cCg>cGg		sperm mitochondria-associated cysteine-rich protein							121	111	115					1																	152857173		2203	4300	6503	SO:0001583	missense	4184				penetration of zona pellucida|sperm motility	mitochondrial membrane		g.chr1:152857173C>G	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.275C>G	1.37:g.152857173C>G	ENSP00000357754:p.Pro92Arg		Somatic					p.P92R	NM_030663.2	NP_109588.2	WXS	Illumina GAIIx	Phase_I	P49901	MCSP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	425	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		92					Q96A42	Missense_Mutation	SNP	ENST00000368765.3	37	c.275C>G	CCDS1029.1	.	.	.	.	.	.	.	.	.	.	C	8.807	0.934257	0.18206	.	.	ENSG00000163206	ENST00000368765	.	.	.	3.84	0.959	0.19624	.	1.658870	0.04006	N	0.297273	T	0.35278	0.0926	L	0.46157	1.445	0.09310	N	1	D	0.59357	0.985	P	0.60012	0.867	T	0.14727	-1.0462	9	0.87932	D	0	2.998	5.7737	0.18267	0.0:0.6564:0.0:0.3436	.	92	P49901	MCSP_HUMAN	R	92	.	ENSP00000357754:P92R	P	+	2	0	SMCP	151123797	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.001000	0.12947	0.229000	0.21039	0.655000	0.94253	CCG		0.532	SMCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034665.1	NM_030663		7	195	0	0	0	1	0	7	195					G	152857173	C	G	152857173	3	3	10	1	0	0	0	0	1	0	0	0	14804	652	23	5	277	5	SMCP	1	152857173	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	117204512	152857173	96393448	6	614										
PGLYRP4	57115	broad.mit.edu	37	chr1	153312868	153312868	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cccactcacttataaccaatGtcgcatgacttgagcctgtc	6	14	1	2	rs373816148		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:153312868G>T	ENST00000359650.5	-	7	877	c.813C>A	c.(811-813)gaC>gaA	p.D271E	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.D267E	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	271					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)			TATAACCAATGTCGCATGACT	0.502																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(799-801)gaC>gaA		peptidoglycan recognition protein 4							103	100	101					1																	153312868		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.chr1:153312868G>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.813C>A	1.37:g.153312868G>T	ENSP00000352672:p.Asp271Glu		Somatic				PGLYRP4_ENST00000359650.5_Missense_Mutation_p.D271E	p.D267E			WXS	Illumina GAIIx	Phase_I	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		7	1159	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		271					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.801C>A	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697915	0.48307	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.27256	1.68;1.68	3.64	0.637	0.17735	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.56097	D	0.000022	T	0.45558	0.1348	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.976;0.986	T	0.45644	-0.9247	10	0.66056	D	0.02	-24.7997	5.7426	0.18102	0.3707:0.0:0.6293:0.0	.	267;271	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	E	267;271	ENSP00000357728:D267E;ENSP00000352672:D271E	ENSP00000352672:D271E	D	-	3	2	PGLYRP4	151579492	0.998000	0.40836	0.243000	0.24186	0.067000	0.16453	1.124000	0.31320	0.015000	0.14971	-0.140000	0.14226	GAC		0.502	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		36	63	1	0	1.836e-18	1	2.30229e-18	36	63					T	153312868	G	T	153312868	3	4	10	1	0	0	0	0	1	0	0	0	11805	1368	48	5	320	5	PGLYRP4	1	153312868	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	455695	153312868	95937753	7	615										
ZBTB7B	51043	broad.mit.edu	37	chr1	154988736	154988736	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	acatgcggaagcacacgggaGagcgcccctactcatgcccg	12	15	1	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:154988736G>C	ENST00000368426.3	+	4	1332	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E399Q|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E433Q|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E399Q	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	399					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)			GCACACGGGAGAGCGCCCCTA	0.632																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(1195-1197)Gag>Cag		zinc finger and BTB domain containing 7B							108	95	100					1																	154988736		2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988736G>C	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.1195G>C	1.37:g.154988736G>C	ENSP00000357411:p.Glu399Gln		Somatic				ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E399Q|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E433Q|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E399Q	p.E399Q	NM_001256455.1	NP_001243384.1	WXS	Illumina GAIIx	Phase_I	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	1332	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		399					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.1195G>C	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	g	16.72	3.201904	0.58234	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	3.87	3.87	0.44632	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.37865	0.1019	M	0.64080	1.96	0.46279	D	0.998965	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.99;0.99	T	0.28004	-1.0057	10	0.72032	D	0.01	.	13.6873	0.62524	0.0:0.0:1.0:0.0	.	399;399;433	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	Q	399;399;433;399	ENSP00000438647:E399Q;ENSP00000357411:E399Q;ENSP00000406286:E433Q;ENSP00000292176:E399Q	ENSP00000292176:E399Q	E	+	1	0	ZBTB7B	153255360	1.000000	0.71417	0.998000	0.56505	0.366000	0.29705	9.473000	0.97714	2.162000	0.67917	0.457000	0.33378	GAG		0.632	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		49	76	0	0	0	1	0	49	76					C	154988736	G	C	154988736	3	2	10	1	0	0	0	0	1	0	0	0	17569	943	33	2	1201	2	ZBTB7B	1	154988736	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	1675868	154988736	94261885	8	616										
DCST1	149095	broad.mit.edu	37	chr1	155013892	155013892	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gagtagcaaagaattgctgaGagcagagactcggaacatct	12	7	1	3			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:155013892G>A	ENST00000295542.1	+	7	647	c.551G>A	c.(550-552)aGa>aAa	p.R184K	DCST1_ENST00000368419.2_Missense_Mutation_p.R184K|DCST1_ENST00000423025.2_Missense_Mutation_p.R159K|DCST1_ENST00000392480.1_Missense_Mutation_p.R184K	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	184						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAATTGCTGAGAGCAGAGACT	0.577																																						ENST00000295542.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(550-552)aGa>aAa		DC-STAMP domain containing 1							39	39	39					1																	155013892		2203	4299	6502	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155013892G>A	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.551G>A	1.37:g.155013892G>A	ENSP00000295542:p.Arg184Lys		Somatic				DCST1_ENST00000368419.2_Missense_Mutation_p.R184K|DCST1_ENST00000423025.2_Missense_Mutation_p.R159K|DCST1_ENST00000392480.1_Missense_Mutation_p.R184K	p.R184K	NM_152494.3	NP_689707.2	WXS	Illumina GAIIx	Phase_I	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		7	647	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		184					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.551G>A	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	5.144	0.212253	0.09757	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	4.29	-2.7	0.06004	.	2.035180	0.02455	N	0.085946	T	0.04003	0.0112	N	0.00237	-1.79	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.32719	-0.9896	10	0.02654	T	1	-0.0997	9.8783	0.41218	0.5049:0.0:0.4951:0.0	.	159;209;184	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	K	184;184;159;184	ENSP00000295542:R184K;ENSP00000376271:R184K;ENSP00000387369:R159K;ENSP00000357404:R184K	ENSP00000295542:R184K	R	+	2	0	DCST1	153280516	0.000000	0.05858	0.026000	0.17262	0.569000	0.35902	-0.122000	0.10627	-0.613000	0.05694	0.313000	0.20887	AGA		0.577	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		5	50	0	0	0	1	0	5	50					A	155013892	G	A	155013892	3	1	10	1	0	0	0	0	1	0	0	0	4304	942	33	3	573	3	DCST1	1	155013892	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	25156	155013892	94236729	9	617										
DHX9	1660	broad.mit.edu	37	chr1	182850453	182850453	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	acctgctttccagagcctttCatcaatgaaggaaagcggct	9	11	2	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:182850453C>T	ENST00000367549.3	+	23	2789	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	893					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)			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						CAGAGCCTTTCATCAATGAAG	0.438																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				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.(2677-2679)ttC>ttT		DEAH (Asp-Glu-Ala-His) box helicase 9							138	135	136					1																	182850453		1948	4136	6084	SO:0001819	synonymous_variant	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.chr1:182850453C>T	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.2679C>T	1.37:g.182850453C>T			Somatic				DHX9_ENST00000485081.1_3'UTR	p.F893F	NM_001357.4	NP_001348.2	WXS	Illumina GAIIx	Phase_I	Q08211	DHX9_HUMAN			23	2789	+			893					B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Silent	SNP	ENST00000367549.3	37	c.2679C>T	CCDS41444.1																																																																																				0.438	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		54	47	0	0	0	1	0	54	47					T	182850453	C	T	182850453	2	4	10	1	0	0	0	0	0	0	0	1	4518	825	29	3		3	DHX9	1	182850453	Silent	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	27836561	182850453	66400168	10	618										
TMEM81	388730	broad.mit.edu	37	chr1	205053392	205053392	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ggtgtagtcaccaccaaaggCaggtagaaggccaaccccag	12	12	1	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:205053392C>G	ENST00000367167.3	-	1	253	c.57G>C	c.(55-57)ctG>ctC	p.L19L		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	19						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCACCAAAGGCAGGTAGAAGG	0.522																																						ENST00000367167.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(55-57)ctG>ctC		transmembrane protein 81							96	89	91					1																	205053392		2203	4300	6503	SO:0001819	synonymous_variant	388730					integral to membrane		g.chr1:205053392C>G	BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.57G>C	1.37:g.205053392C>G			Somatic					p.L19L	NM_203376.1	NP_976310.1	WXS	Illumina GAIIx	Phase_I	Q6P7N7	TMM81_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		1	253	-	all_cancers(21;0.144)|Breast(84;0.0437)		19					Q6UVZ4	Silent	SNP	ENST00000367167.3	37	c.57G>C	CCDS1450.1																																																																																				0.522	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1	NM_203376		36	41	0	0	0	1	0	36	41					G	205053392	C	G	205053392	2	3	10	1	0	0	0	0	0	0	0	1	16220	697	25	5		5	TMEM81	1	205053392	Silent	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	22202939	205053392	44197229	11	619										
RYR2	6262	broad.mit.edu	37	chr1	237957189	237957189	+	Missense_Mutation	SNP	G	G	C													0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cccattggttatttttaagcGagaaaaggaagtggcacgga							TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:237957189G>C	ENST00000366574.2	+	95	14122	c.13805G>C	c.(13804-13806)cGa>cCa	p.R4602P	RYR2_ENST00000542537.1_Missense_Mutation_p.R4586P|RYR2_ENST00000360064.6_Missense_Mutation_p.R4608P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4602					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)			ATTTTTAAGCGAGAAAAGGAA	0.353																																						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.(13804-13806)cGa>cCa		ryanodine receptor 2 (cardiac)							60	56	57					1																	237957189		1811	4070	5881	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.chr1:237957189G>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.13805G>C	1.37:g.237957189G>C	ENSP00000355533:p.Arg4602Pro		Somatic				RYR2_ENST00000542537.1_Missense_Mutation_p.R4586P|RYR2_ENST00000360064.6_Missense_Mutation_p.R4608P	p.R4602P	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		95	14122	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4602					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13805G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858334	0.91433	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.98044	-4.68;-4.65;-4.67	5.69	5.69	0.88448	.	0.000000	0.52532	U	0.000069	D	0.98865	0.9616	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.81914	0.995;0.992	D	0.99564	1.0969	10	0.87932	D	0	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	35;4602	F5H3C7;Q92736	.;RYR2_HUMAN	P	4602;4608;4586;35	ENSP00000355533:R4602P;ENSP00000353174:R4608P;ENSP00000443798:R4586P	ENSP00000353174:R4608P	R	+	2	0	RYR2	236023812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.840000	0.97914	0.655000	0.94253	CGA		0.353	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		14	11	0	0	0	1	0	14	11					C	237957189	G	C	237957189	3	2	10	1	0	0	0	0	1	0	0	0	13784	1058	37	2	14183	2	RYR2	1	237957189	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	32903797	237957189	11293432	12	620	3	2								
RYR2	6262	broad.mit.edu	37	chr1	237957190	237957190	+	Silent	SNP	A	A	G													0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ccattggttatttttaagcgAgaaaaggaagtggcacggaa							TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:237957190A>G	ENST00000366574.2	+	95	14123	c.13806A>G	c.(13804-13806)cgA>cgG	p.R4602R	RYR2_ENST00000542537.1_Silent_p.R4586R|RYR2_ENST00000360064.6_Silent_p.R4608R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4602					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)			TTTTTAAGCGAGAAAAGGAAG	0.348																																						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.(13804-13806)cgA>cgG		ryanodine receptor 2 (cardiac)							61	57	58					1																	237957190		1808	4070	5878	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.chr1:237957190A>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.13806A>G	1.37:g.237957190A>G			Somatic				RYR2_ENST00000542537.1_Silent_p.R4586R|RYR2_ENST00000360064.6_Silent_p.R4608R	p.R4602R	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		95	14123	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4602					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.13806A>G	CCDS55691.1																																																																																				0.348	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		14	11	0	0	0	1	0	14	11					G	237957190	A	G	237957190	2	3	10	1	0	0	0	0	0	0	0	1	13784	291	11	4		4	RYR2	1	237957190	Silent	SNP	A	TCGA-N5-A4RT-01A-11D-A28R-08	1	237957190	11293431	13	621	3	2								
OR2W3	343171	broad.mit.edu	37	chr1	248059114	248059114	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	tggacctcagtttcaccaccAgctccatcccccagctgctc	6	19	2	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:248059114A>G	ENST00000360358.3	+	1	226	c.226A>G	c.(226-228)Agc>Ggc	p.S76G	OR2W3_ENST00000537741.1_Missense_Mutation_p.S76G	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	76						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(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			TTTCACCACCAGCTCCATCCC	0.582																																						ENST00000537741.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(226-228)Agc>Ggc		olfactory receptor, family 2, subfamily W, member 3							186	146	159					1																	248059114		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059114A>G	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"GPCR / Class A : Olfactory receptors"	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.226A>G	1.37:g.248059114A>G	ENSP00000353516:p.Ser76Gly		Somatic				OR2W3_ENST00000360358.3_Missense_Mutation_p.S76G	p.S76G			WXS	Illumina GAIIx	Phase_I	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	483	+	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)		76					Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.226A>G	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.232038	0.39399	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00816	5.66;5.66	5.29	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.157981	0.45361	D	0.000372	T	0.02727	0.0082	M	0.93062	3.375	0.23559	N	0.99742	B	0.19935	0.04	B	0.23574	0.047	T	0.12837	-1.0532	10	0.59425	D	0.04	.	9.3874	0.38352	0.8587:0.0:0.1413:0.0	.	76	Q7Z3T1	OR2W3_HUMAN	G	76	ENSP00000445853:S76G;ENSP00000353516:S76G	ENSP00000353516:S76G	S	+	1	0	OR2W3	246125737	0.001000	0.12720	1.000000	0.80357	0.996000	0.88848	1.504000	0.35726	2.227000	0.72691	0.496000	0.49642	AGC		0.582	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		9	213	0	0	0	1	0	9	213					G	248059114	A	G	248059114	3	3	10	1	0	0	0	0	1	0	0	0	11042	188	7	4	228	4	OR2W3	1	248059114	Missense_Mutation	SNP	A	TCGA-N5-A4RT-01A-11D-A28R-08	10101924	248059114	1191507	14	622										
SRBD1	55133	broad.mit.edu	37	chr2	45812822	45812822	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	taatgagctcttttctataaCgtataatgaagggaattgtg	9	4	2	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:45812822C>G	ENST00000263736.4	-	5	802	c.740G>C	c.(739-741)cGt>cCt	p.R247P		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	247					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)			TTTTCTATAACGTATAATGAA	0.353																																						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.(739-741)cGt>cCt		S1 RNA binding domain 1							112	115	114					2																	45812822		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45812822C>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.740G>C	2.37:g.45812822C>G	ENSP00000263736:p.Arg247Pro		Somatic					p.R247P	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)		5	802	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	247					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.740G>C	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371277	0.82573	.	.	ENSG00000068784	ENST00000263736	T	0.77229	-1.08	5.04	5.04	0.67666	Tex-like protein, N-terminal (1);Tex-like protein, HTH domain (1);	0.000000	0.64402	D	0.000002	D	0.91284	0.7252	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93348	0.6716	10	0.87932	D	0	.	18.1738	0.89754	0.0:1.0:0.0:0.0	.	247	Q8N5C6	SRBD1_HUMAN	P	247	ENSP00000263736:R247P	ENSP00000263736:R247P	R	-	2	0	SRBD1	45666326	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.350000	0.73017	2.615000	0.88500	0.557000	0.71058	CGT		0.353	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		6	34	0	0	0	1	0	6	34					G	45812822	C	G	45812822	3	3	10	1	0	0	0	0	1	0	0	0	15148	536	19	5	2315	5	SRBD1	2	45812822	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08		45812822	197386551	15	623										
EPAS1	2034	broad.mit.edu	37	chr2	46602865	46602865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ggtagtaagtggccagtaccGgatgctcgcaaagcatgggg	16	8	0	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:46602865G>A	ENST00000263734.3	+	8	1433	c.923G>A	c.(922-924)cGg>cAg	p.R308Q		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	308	PAC.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GGCCAGTACCGGATGCTCGCA	0.602																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(922-924)cGg>cAg		endothelial PAS domain protein 1							118	84	96					2																	46602865		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46602865G>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.923G>A	2.37:g.46602865G>A	ENSP00000263734:p.Arg308Gln		Somatic					p.R308Q	NM_001430.4	NP_001421.2	WXS	Illumina GAIIx	Phase_I	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		8	1433	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	308			PAC.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.923G>A	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	36	5.844425	0.97016	.	.	ENSG00000116016	ENST00000263734	T	0.42513	0.97	5.31	5.31	0.75309	PAS fold-3 (1);PAS (1);	0.000000	0.85682	D	0.000000	T	0.75568	0.3867	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83269	-0.0044	10	0.87932	D	0	.	18.9681	0.92704	0.0:0.0:1.0:0.0	.	308	Q99814	EPAS1_HUMAN	Q	308	ENSP00000263734:R308Q	ENSP00000263734:R308Q	R	+	2	0	EPAS1	46456369	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.864000	0.99589	2.494000	0.84150	0.655000	0.94253	CGG		0.602	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		18	39	0	0	0	1	0	18	39					A	46602865	G	A	46602865	3	1	10	1	0	0	0	0	1	0	0	0	5152	1116	39	1	953	1	EPAS1	2	46602865	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	790043	46602865	196596508	16	624										
AFTPH	54812	broad.mit.edu	37	chr2	64780209	64780209	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	acttaaaaatgggcaagaagGtgagattggacattttgatt	11	3	0	3			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:64780209G>T	ENST00000422803.1	+	2	1915	c.1601G>T	c.(1600-1602)gGt>gTt	p.G534V	AFTPH_ENST00000238855.7_Missense_Mutation_p.G534V|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000409183.1_Missense_Mutation_p.G165V|AFTPH_ENST00000409933.1_Missense_Mutation_p.G534V|AFTPH_ENST00000238856.4_Missense_Mutation_p.G534V			Q6ULP2	AFTIN_HUMAN	aftiphilin	534					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GGGCAAGAAGGTGAGATTGGA	0.388																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1600-1602)gGt>gTt		aftiphilin							118	118	118					2																	64780209		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64780209G>T	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1601G>T	2.37:g.64780209G>T	ENSP00000397726:p.Gly534Val		Somatic				AFTPH_ENST00000238856.4_Missense_Mutation_p.G534V|AFTPH_ENST00000409933.1_Missense_Mutation_p.G534V|AFTPH_ENST00000409183.1_Missense_Mutation_p.G165V|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000238855.7_Missense_Mutation_p.G534V	p.G534V			WXS	Illumina GAIIx	Phase_I	Q6ULP2	AFTIN_HUMAN			2	1915	+			534					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.1601G>T		.	.	.	.	.	.	.	.	.	.	G	14.32	2.499121	0.44455	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.47869	1.82;1.83;1.83;1.83;0.83	6.06	5.16	0.70880	.	0.469439	0.22670	N	0.057067	T	0.58481	0.2125	L	0.56769	1.78	0.58432	D	0.999996	D;D;P;P	0.55172	0.97;0.97;0.92;0.92	P;P;P;P	0.54664	0.758;0.758;0.564;0.564	T	0.52208	-0.8606	10	0.33141	T	0.24	-5.4707	17.0725	0.86578	0.0:0.2344:0.7656:0.0	.	534;534;534;534	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	V	534;534;534;534;165	ENSP00000238856:G534V;ENSP00000397726:G534V;ENSP00000238855:G534V;ENSP00000387071:G534V;ENSP00000386913:G165V	ENSP00000238855:G534V	G	+	2	0	AFTPH	64633713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.216000	0.51176	2.880000	0.98712	0.650000	0.86243	GGT		0.388	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		13	45	1	0	7.03913e-09	1	8.17781e-09	13	45					T	64780209	G	T	64780209	3	4	10	1	0	0	0	0	1	0	0	0	364	1261	44	5	1603	5	AFTPH	2	64780209	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	18177344	64780209	178419164	17	625										
GMCL1	64395	broad.mit.edu	37	chr2	70096956	70096956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cactgaatcagccatgtagcGgatctgtcagtttacagcct	9	11	3	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:70096956G>A	ENST00000282570.3	+	12	1575	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	442					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GCCATGTAGCGGATCTGTCAG	0.433																																						ENST00000282570.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1324-1326)Gga>Aga		germ cell-less, spermatogenesis associated 1							151	129	136					2																	70096956		2203	4300	6503	SO:0001583	missense	64395				cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix		g.chr2:70096956G>A	AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"BTB/POZ domain containing"	23843	protein-coding gene	gene with protein product	"spermatogenesis associated 29"		"germ cell-less homolog 1 (Drosophila)"				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.1324G>A	2.37:g.70096956G>A	ENSP00000282570:p.Gly442Arg		Somatic					p.G442R	NM_178439.3	NP_848526.1	WXS	Illumina GAIIx	Phase_I	Q96IK5	GMCL1_HUMAN			12	1575	+			442					Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	37	c.1324G>A	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117860	0.56505	.	.	ENSG00000087338	ENST00000282570	T	0.54479	0.57	5.22	5.22	0.72569	.	0.106321	0.64402	D	0.000005	T	0.40015	0.1100	L	0.34521	1.04	0.54753	D	0.999987	B	0.16396	0.017	B	0.15052	0.012	T	0.18808	-1.0325	10	0.23891	T	0.37	-13.6507	11.6927	0.51525	0.0:0.0:0.8232:0.1768	.	442	Q96IK5	GMCL1_HUMAN	R	442	ENSP00000282570:G442R	ENSP00000282570:G442R	G	+	1	0	GMCL1	69950460	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.102000	0.71486	2.585000	0.87301	0.655000	0.94253	GGA		0.433	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439		13	35	0	0	0	1	0	13	35					A	70096956	G	A	70096956	3	1	10	1	0	0	0	0	1	0	0	0	6493	1117	39	1	1370	1	GMCL1	2	70096956	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	5316747	70096956	173102417	18	626										
SLC4A5	57835	broad.mit.edu	37	chr2	74491273	74491273	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ccagcgtaaggcctgactcaCttgtggtggagactgacttc	12	11	1	3			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:74491273C>T	ENST00000451608.2	-	15	1879		c.e15+1		SLC4A5_ENST00000423644.1_Splice_Site|SLC4A5_ENST00000483195.1_Splice_Site|SLC4A5_ENST00000394019.2_Splice_Site|SLC4A5_ENST00000346834.4_Splice_Site|SLC4A5_ENST00000359484.4_Splice_Site|SLC4A5_ENST00000377632.1_Splice_Site|SLC4A5_ENST00000358683.4_Splice_Site|SLC4A5_ENST00000357822.5_Splice_Site|SLC4A5_ENST00000377634.4_Splice_Site																							GCCTGACTCACTTGTGGTGGA	0.592																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.e10+1		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							158	131	141					2																	74491273		2203	4300	6503	SO:0001630	splice_region_variant	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74491273C>T																												ENST00000451608.2:c.573+1G>A	2.37:g.74491273C>T			Somatic				SLC4A5_ENST00000483195.1_Splice_Site|RP11-287D1.3_ENST00000451608.2_Splice_Site|SLC4A5_ENST00000423644.1_Splice_Site|SLC4A5_ENST00000377634.4_Splice_Site|SLC4A5_ENST00000377632.1_Splice_Site|SLC4A5_ENST00000359484.4_Splice_Site|SLC4A5_ENST00000358683.4_Splice_Site|SLC4A5_ENST00000357822.5_Splice_Site|SLC4A5_ENST00000346834.4_Splice_Site		NM_133478.2	NP_597812.1	WXS	Illumina GAIIx	Phase_I	Q9BY07	S4A5_HUMAN			10	1113	-									Splice_Site	SNP	ENST00000451608.2	37			.	.	.	.	.	.	.	.	.	.	C	18.05	3.537635	0.65085	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4929	0.75624	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC4A5	74344781	1.000000	0.71417	0.984000	0.44739	0.591000	0.36615	7.626000	0.83164	2.557000	0.86248	0.655000	0.94253	.		0.592	RP11-287D1.3-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000445907.1		Intron	17	48	0	0	0	1	0	17	48					T	74491273	C	T	74491273	5	4	10	1	0	0	0	0	0	0	1	0	14672	579	20	3	2785	3	SLC4A5	2	74491273	Splice_Site	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	4394317	74491273	168708100	19	627										
RETSAT	54884	broad.mit.edu	37	chr2	85577956	85577956	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ttcctcctgtggaaacttctCcttgaggccctgaatgtagg	10	11	1	2	rs201313189		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:85577956C>A	ENST00000295802.4	-	3	656	c.544G>T	c.(544-546)Gag>Tag	p.E182*	RETSAT_ENST00000457495.2_Nonsense_Mutation_p.E121*|RETSAT_ENST00000263854.6_Nonsense_Mutation_p.E182*	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	182					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)	GGAAACTTCTCCTTGAGGCCC	0.483																																						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.(544-546)Gag>Tag		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						147	139	142					2																	85577956		2203	4300	6503	SO:0001587	stop_gained	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85577956C>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.544G>T	2.37:g.85577956C>A	ENSP00000295802:p.Glu182*		Somatic				RETSAT_ENST00000457495.2_Nonsense_Mutation_p.E121*|RETSAT_ENST00000263854.6_Nonsense_Mutation_p.E182*	p.E182*	NM_017750.3	NP_060220.3	WXS	Illumina GAIIx	Phase_I	Q6NUM9	RETST_HUMAN			3	656	-			182					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Nonsense_Mutation	SNP	ENST00000295802.4	37	c.544G>T	CCDS1972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.811666|5.811666	0.96975|0.96975	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000295802;ENST00000263854;ENST00000457495|ENST00000409984	.|.	.|.	.|.	5.92|5.92	5.04|5.04	0.67666|0.67666	.|.	0.161319|.	0.53938|.	D|.	0.000041|.	.|T	.|0.53481	.|0.1799	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64219	.|-0.6459	.|3	0.02654|.	T|.	1|.	-18.588|-18.588	9.5231|9.5231	0.39147|0.39147	0.0:0.8386:0.0:0.1614|0.0:0.8386:0.0:0.1614	.|.	.|.	.|.	.|.	X|S	182;182;121|120	.|.	ENSP00000263854:E182X|.	E|R	-|-	1|3	0|2	RETSAT|RETSAT	85431467|85431467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	2.598000|2.598000	0.46223|0.46223	1.490000|1.490000	0.48466|0.48466	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.483	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		10	108	1	0	0.000442599	1	0.000463117	10	108					A	85577956	C	A	85577956	4	1	10	1	0	0	0	0	0	1	0	0	13253	864	30	2	1324	2	RETSAT	2	85577956	Nonsense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	11086683	85577956	157621417	20	628										
MAT2A	4144	broad.mit.edu	37	chr2	85768241	85768241	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	aaatcagtgatgctgtccttGatgcccaccttcagcaggat	9	11	2	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:85768241G>C	ENST00000306434.3	+	2	250	c.127G>C	c.(127-129)Gat>Cat	p.D43H	MAT2A_ENST00000409017.1_5'UTR	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	43					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGCTGTCCTTGATGCCCACCT	0.368																																						ENST00000306434.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(127-129)Gat>Cat		methionine adenosyltransferase II, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						110	116	114					2																	85768241		2203	4300	6503	SO:0001583	missense	4144				methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr2:85768241G>C		CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.127G>C	2.37:g.85768241G>C	ENSP00000303147:p.Asp43His		Somatic				MAT2A_ENST00000409017.1_5'UTR	p.D43H	NM_005911.5	NP_005902.1	WXS	Illumina GAIIx	Phase_I	P31153	METK2_HUMAN			2	250	+			43					A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	ENST00000306434.3	37	c.127G>C	CCDS1977.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393370	0.83011	.	.	ENSG00000168906	ENST00000306434	D	0.95588	-3.75	5.56	5.56	0.83823	S-adenosylmethionine synthetase, N-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98918	0.9633	H	0.99525	4.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99143	1.0856	10	0.87932	D	0	-18.5107	17.3856	0.87415	0.0:0.0:1.0:0.0	.	43	P31153	METK2_HUMAN	H	43	ENSP00000303147:D43H	ENSP00000303147:D43H	D	+	1	0	MAT2A	85621752	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.448000	0.97600	2.771000	0.95319	0.563000	0.77884	GAT		0.368	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2	NM_005911		18	77	0	0	0	1	0	18	77					C	85768241	G	C	85768241	3	2	10	1	0	0	0	0	1	0	0	0	9339	1290	45	2	133	2	MAT2A	2	85768241	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	190285	85768241	157431132	21	629										
POLR1A	25885	broad.mit.edu	37	chr2	86274381	86274381	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ctgtgtaggccaaaaggcatGcatgcctgcagattaaatca	10	9	1	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:86274381G>T	ENST00000263857.6	-	19	3018	c.2640C>A	c.(2638-2640)tgC>tgA	p.C880*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.C880*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	880					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						CAAAAGGCATGCATGCCTGCA	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.(2638-2640)tgC>tgA		polymerase (RNA) I polypeptide A, 194kDa							86	83	84					2																	86274381		1983	4165	6148	SO:0001587	stop_gained	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.chr2:86274381G>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.2640C>A	2.37:g.86274381G>T	ENSP00000263857:p.Cys880*		Somatic				POLR1A_ENST00000409681.1_Nonsense_Mutation_p.C880*	p.C880*			WXS	Illumina GAIIx	Phase_I	O95602	RPA1_HUMAN			19	3018	-			880					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Nonsense_Mutation	SNP	ENST00000263857.6	37	c.2640C>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	G	43	10.005116	0.99315	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	.	.	.	5.54	1.71	0.24356	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.531	9.6738	0.40028	0.281:0.0:0.719:0.0	.	.	.	.	X	880	.	ENSP00000263857:C880X	C	-	3	2	POLR1A	86127892	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	1.416000	0.34759	0.033000	0.15463	-0.136000	0.14681	TGC		0.478	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		6	37	1	0	3.59834e-05	1	3.94817e-05	6	37					T	86274381	G	T	86274381	4	4	10	1	0	0	0	0	0	1	0	0	12218	1311	46	5	2586	5	POLR1A	2	86274381	Nonsense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	506140	86274381	156924992	22	630										
KIAA1310	55683	broad.mit.edu	37	chr2	97274353	97274353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ggcagaggtcactgtggtcaCtttggtcttgggactggagg	17	7	3	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:97274353C>T	ENST00000431828.1	-	14	1709	c.1633G>A	c.(1633-1635)Gtg>Atg	p.V545M	KANSL3_ENST00000440133.1_Missense_Mutation_p.V339M|KANSL3_ENST00000599854.1_Missense_Mutation_p.V458M|KANSL3_ENST00000441706.2_Missense_Mutation_p.V458M|KANSL3_ENST00000487070.1_5'UTR			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	545					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)											ACTGTGGTCACTTTGGTCTTG	0.522																																						ENST00000599854.1																			0											c.(1372-1374)Gtg>Atg		KAT8 regulatory NSL complex subunit 3							129	124	126					2																	97274353		2036	4208	6244	SO:0001583	missense	55683							g.chr2:97274353C>T	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.1633G>A	2.37:g.97274353C>T	ENSP00000396749:p.Val545Met		Somatic				KANSL3_ENST00000440133.1_Missense_Mutation_p.V339M|KANSL3_ENST00000431828.1_Missense_Mutation_p.V545M|KANSL3_ENST00000441706.2_Missense_Mutation_p.V458M|KANSL3_ENST00000487070.1_5'UTR	p.V458M	NM_001115016.2	NP_001108488.1	WXS	Illumina GAIIx	Phase_I	Q9P2N6	K1310_HUMAN			14	1839	-			545					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	c.1372G>A	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037708	0.35989	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759	T;T	0.45668	0.9;0.89	5.24	4.29	0.51040	.	0.334551	0.31760	N	0.007109	T	0.19287	0.0463	N	0.08118	0	0.80722	D	1	B;B;B;B	0.12630	0.003;0.001;0.006;0.001	B;B;B;B	0.12837	0.006;0.004;0.008;0.002	T	0.10776	-1.0615	10	0.28530	T	0.3	.	5.2466	0.15500	0.2054:0.6904:0.0:0.1041	.	339;545;458;433	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	M	458;433;545;458;339;339	ENSP00000396749:V545M;ENSP00000406207:V339M	ENSP00000346144:V458M	V	-	1	0	KIAA1310	96638080	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	0.895000	0.28363	2.723000	0.93209	0.655000	0.94253	GTG		0.522	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		14	61	0	0	0	1	0	14	61					T	97274353	C	T	97274353	3	4	10	1	0	0	0	0	1	0	0	0	8231	565	20	3	1035	3	KIAA1310	2	97274353	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	10999972	97274353	145925020	23	631										
IL1B	3553	broad.mit.edu	37	chr2	113588102	113588102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gatttctatcttgttgaagaCaaatcgcttttccatcttct	5	9	4	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:113588102C>A	ENST00000263341.2	-	7	856	c.646G>T	c.(646-648)Gtc>Ttc	p.V216F	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	216					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)	TTGTTGAAGACAAATCGCTTT	0.423																																						ENST00000263341.2																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12						c.(646-648)Gtc>Ttc		interleukin 1, beta	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						197	192	194					2																	113588102		2203	4300	6503	SO:0001583	missense	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.chr2:113588102C>A	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.646G>T	2.37:g.113588102C>A	ENSP00000263341:p.Val216Phe		Somatic				IL1B_ENST00000491056.1_5'UTR	p.V216F	NM_000576.2	NP_000567.1	WXS	Illumina GAIIx	Phase_I	P01584	IL1B_HUMAN			7	856	-			216					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Missense_Mutation	SNP	ENST00000263341.2	37	c.646G>T	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761662	0.69763	.	.	ENSG00000125538	ENST00000263341	T	0.18810	2.19	5.39	2.22	0.28083	.	0.280865	0.37577	N	0.002031	T	0.46619	0.1402	M	0.89095	3.005	0.34507	D	0.706674	D	0.89917	1.0	D	0.83275	0.996	T	0.59653	-0.7414	10	0.87932	D	0	-16.6538	6.9133	0.24346	0.0:0.6634:0.0:0.3366	.	216	P01584	IL1B_HUMAN	F	216	ENSP00000263341:V216F	ENSP00000263341:V216F	V	-	1	0	IL1B	113304573	0.986000	0.35501	1.000000	0.80357	0.997000	0.91878	0.159000	0.16442	0.657000	0.30906	0.650000	0.86243	GTC		0.423	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		5	88	1	0	0.0215528	1	0.0218291	5	88					A	113588102	C	A	113588102	3	1	10	1	0	0	0	0	1	0	0	0	7660	478	17	5	167	5	IL1B	2	113588102	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	16313749	113588102	129611271	24	632										
TTN	7273	broad.mit.edu	37	chr2	179639016	179639016	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	tcctccttggttacatccttGaccgtgaggttctgacgtcc	9	13	1	3			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:179639016G>C	ENST00000591111.1	-	30	7199	c.6975C>G	c.(6973-6975)gtC>gtG	p.V2325V	TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.V2279V|TTN_ENST00000359218.5_Silent_p.V2279V|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Silent_p.V2325V|TTN_ENST00000360870.5_Silent_p.V2325V|TTN_ENST00000460472.2_Silent_p.V2279V|TTN_ENST00000589042.1_Silent_p.V2325V|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12647	Ig-like 12.				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)			TTACATCCTTGACCGTGAGGT	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.(6973-6975)gtC>gtG		titin							168	153	158					2																	179639016		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639016G>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.6975C>G	2.37:g.179639016G>C			Somatic				TTN_ENST00000591111.1_Silent_p.V2325V|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V2279V|TTN_ENST00000360870.5_Silent_p.V2325V|TTN_ENST00000359218.5_Silent_p.V2279V|TTN_ENST00000342992.6_Silent_p.V2325V|TTN_ENST00000342175.6_Silent_p.V2279V	p.V2325V	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)		30	7199	-			2042			Ig-like 12.		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.6975C>G																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	52	0	0	0	1	0	20	52					C	179639016	G	C	179639016	2	2	10	1	0	0	0	0	0	0	0	1	16750	1277	45	2		2	TTN	2	179639016	Silent	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	66050914	179639016	63560357	25	633										
SF3B1	23451	broad.mit.edu	37	chr2	198285262	198285262	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gtctgtgctcagcaaatggaTcatactgaaaagaggtatgt	11	6	3	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:198285262T>G	ENST00000335508.6	-	4	396	c.305A>C	c.(304-306)gAt>gCt	p.D102A	SF3B1_ENST00000414963.2_Missense_Mutation_p.D102A|SF3B1_ENST00000409915.4_Missense_Mutation_p.D102A|SF3B1_ENST00000487698.1_Missense_Mutation_p.D102A	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	102					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)			AGCAAATGGATCATACTGAAA	0.368			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"splicing factor 3b, subunit 1, 155kDa"			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(304-306)gAt>gCt		splicing factor 3b, subunit 1, 155kDa							135	129	131					2																	198285262		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.chr2:198285262T>G	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.305A>C	2.37:g.198285262T>G	ENSP00000335321:p.Asp102Ala		Somatic				SF3B1_ENST00000487698.1_Missense_Mutation_p.D102A|SF3B1_ENST00000409915.4_Missense_Mutation_p.D102A|SF3B1_ENST00000414963.2_Missense_Mutation_p.D102A	p.D102A	NM_012433.2	NP_036565.2	WXS	Illumina GAIIx	Phase_I	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		4	396	-			102					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.305A>C	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	30	5.054105	0.93793	.	.	ENSG00000115524	ENST00000335508;ENST00000409915;ENST00000414963;ENST00000487698	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.83640	0.5298	M	0.85197	2.74	0.80722	D	1	D;D;B	0.76494	0.999;0.996;0.301	D;D;B	0.80764	0.994;0.986;0.117	D	0.85220	0.1026	9	0.52906	T	0.07	.	16.6102	0.84881	0.0:0.0:0.0:1.0	.	102;102;102	B4DGZ4;E9PCH3;O75533	.;.;SF3B1_HUMAN	A	102	.	ENSP00000335321:D102A	D	-	2	0	SF3B1	197993507	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.870000	0.87175	2.326000	0.78906	0.523000	0.50628	GAT		0.368	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			38	17	0	0	0	1	0	38	17					G	198285262	T	G	198285262	3	3	10	1	0	0	0	0	1	0	0	0	14164	1435	50	4	3721	4	SF3B1	2	198285262	Missense_Mutation	SNP	T	TCGA-N5-A4RT-01A-11D-A28R-08	18646246	198285262	44914111	26	634										
KIAA1486	57624	broad.mit.edu	37	chr2	226378110	226378110	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	aggtggagaagtagggcgagGccacgaaggaagttacgtgg	19	5	0	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:226378110G>T	ENST00000272907.6	+	3	658	c.245G>T	c.(244-246)gGc>gTc	p.G82V	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	82					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GTAGGGCGAGGCCACGAAGGA	0.463																																						ENST00000272907.6																			0											c.(244-246)gGc>gTc		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							69	70	70					2																	226378110		1991	4166	6157	SO:0001583	missense	57624							g.chr2:226378110G>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.245G>T	2.37:g.226378110G>T	ENSP00000272907:p.Gly82Val		Somatic				NYAP2_ENST00000409269.2_Intron	p.G82V	NM_020864.1	NP_065915.1	WXS	Illumina GAIIx	Phase_I	Q9P242	K1486_HUMAN			3	658	+			82					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.245G>T	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100867	0.56183	.	.	ENSG00000144460	ENST00000272907	T	0.28069	1.63	5.41	4.51	0.55191	.	0.237793	0.33092	N	0.005298	T	0.28366	0.0701	N	0.21448	0.665	0.80722	D	1	P	0.51653	0.947	P	0.47864	0.559	T	0.02132	-1.1208	10	0.30078	T	0.28	-23.4205	15.9545	0.79876	0.0:0.1353:0.8647:0.0	.	82	Q9P242	K1486_HUMAN	V	82	ENSP00000272907:G82V	ENSP00000272907:G82V	G	+	2	0	KIAA1486	226086354	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.274000	0.58921	1.239000	0.43787	0.563000	0.77884	GGC		0.463	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		17	37	1	0	8.00594e-06	1	9.03527e-06	17	37					T	226378110	G	T	226378110	3	4	10	1	0	0	0	0	1	0	0	0	8246	1203	42	5	251	5	KIAA1486	2	226378110	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	28092848	226378110	16821263	27	635										
NBEAL2	23218	broad.mit.edu	37	chr3	47035510	47035510	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	agtgactccccctcggccaaGgtgaggctgctgcactgcag	13	14	0	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:47035510G>C	ENST00000450053.3	+	11	1376	c.1197G>C	c.(1195-1197)aaG>aaC	p.K399N	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Splice_Site_p.K399N	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	399					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)		CCTCGGCCAAGGTGAGGCTGC	0.602																																						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.e11+1		neurobeachin-like 2							33	33	33					3																	47035510		2061	4198	6259	SO:0001630	splice_region_variant	23218						binding	g.chr3:47035510G>C	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.1197+1G>C	3.37:g.47035510G>C			Somatic				NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Splice_Site_p.K399_splice	p.K399_splice	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)	11	1376	+		Acute lymphoblastic leukemia(5;0.0534)	399					O60288|Q6P994|Q6UX91|Q8NAC9	Splice_Site	SNP	ENST00000450053.3	37	c.1197_splice	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342469	0.81911	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.61980	0.06;0.06	5.88	5.88	0.94601	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.79845	0.4516	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.80564	-0.1326	9	0.87932	D	0	.	19.2088	0.93746	0.0:0.0:1.0:0.0	.	365;399	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	N	399;399;365	ENSP00000292309:K399N;ENSP00000415034:K399N	ENSP00000292309:K399N	K	+	3	2	NBEAL2	47010514	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	7.285000	0.78660	2.790000	0.95986	0.591000	0.81541	AAG		0.602	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	Missense_Mutation	3	16	0	0	0	1	0	3	16					C	47035510	G	C	47035510	5	2	10	1	0	0	0	0	0	0	1	0	10198	1014	35	5	1239	5	NBEAL2	3	47035510	Splice_Site	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08		47035510	150986920	28	636										
FAM55C	91775	broad.mit.edu	37	chr3	101535731	101535731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ggcccagaaagtttaagatgCgtcagtttaatgaccctgac	10	9	1	4	rs147008534		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:101535731C>T	ENST00000491511.2	+	7	1971	c.1015C>T	c.(1015-1017)Cgt>Tgt	p.R339C	NXPE3_ENST00000273347.5_Missense_Mutation_p.R339C|NXPE3_ENST00000422132.1_Missense_Mutation_p.R339C|NXPE3_ENST00000477909.1_Missense_Mutation_p.R339C	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	339						extracellular region (GO:0005576)											GTTTAAGATGCGTCAGTTTAA	0.393																																						ENST00000422132.1																			0											c.(1015-1017)Cgt>Tgt		neurexophilin and PC-esterase domain family, member 3		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	134	131	132		1015,1015	5.9	1	3	dbSNP_134	132	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	FAM55C	NM_001134456.1,NM_145037.2	180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	339/560,339/560	101535731	2,13004	2203	4300	6503	SO:0001583	missense	91775							g.chr3:101535731C>T	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.1015C>T	3.37:g.101535731C>T	ENSP00000417485:p.Arg339Cys		Somatic				NXPE3_ENST00000491511.1_Missense_Mutation_p.R339C|NXPE3_ENST00000477909.1_Missense_Mutation_p.R339C|NXPE3_ENST00000273347.5_Missense_Mutation_p.R339C	p.R339C			WXS	Illumina GAIIx	Phase_I					4	1212	+								A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	c.1015C>T	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984486	0.93044	0.0	2.33E-4	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	5.86	5.86	0.93980	.	0.240895	0.49916	D	0.000125	T	0.36110	0.0955	M	0.85710	2.77	0.58432	D	0.999999	D	0.69078	0.997	P	0.50192	0.634	T	0.26430	-1.0103	10	0.72032	D	0.01	-21.1452	15.6886	0.77430	0.0:0.9328:0.0:0.0672	.	339	Q969Y0	FA55C_HUMAN	C	339	ENSP00000273347:R339C;ENSP00000417485:R339C;ENSP00000418369:R339C;ENSP00000396421:R339C	ENSP00000273347:R339C	R	+	1	0	FAM55C	103018421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.886000	0.63149	2.937000	0.99478	0.650000	0.86243	CGT		0.393	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		38	36	0	0	0	1	0	38	36					T	101535731	C	T	101535731	3	4	10	1	0	0	0	0	1	0	0	0	5594	768	27	1	1029	1	FAM55C	3	101535731	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	54500221	101535731	96486699	29	637										
CPNE4	131034	broad.mit.edu	37	chr3	131404727	131404727	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gatgactcttacctcagttcGgtgcaccagctgctgagttg	11	11	2	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:131404727G>A	ENST00000512055.1	-	10	2709	c.583C>T	c.(583-585)Cga>Tga	p.R195*	CPNE4_ENST00000511604.1_Nonsense_Mutation_p.R195*|CPNE4_ENST00000512332.1_Nonsense_Mutation_p.R213*|CPNE4_ENST00000429747.1_Nonsense_Mutation_p.R195*|CPNE4_ENST00000502818.1_Nonsense_Mutation_p.R213*			Q96A23	CPNE4_HUMAN	copine IV	195	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ACCTCAGTTCGGTGCACCAGC	0.378																																						ENST00000512055.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						c.(583-585)Cga>Tga		copine IV							83	77	79					3																	131404727		2203	4300	6503	SO:0001587	stop_gained	131034							g.chr3:131404727G>A	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.583C>T	3.37:g.131404727G>A	ENSP00000421705:p.Arg195*		Somatic				CPNE4_ENST00000511604.1_Nonsense_Mutation_p.R195*|CPNE4_ENST00000502818.1_Nonsense_Mutation_p.R213*|CPNE4_ENST00000512332.1_Nonsense_Mutation_p.R213*|CPNE4_ENST00000429747.1_Nonsense_Mutation_p.R195*	p.R195*			WXS	Illumina GAIIx	Phase_I	Q96A23	CPNE4_HUMAN			10	2709	-			195			C2 2.		D3DNC5|Q8TEX1	Nonsense_Mutation	SNP	ENST00000512055.1	37	c.583C>T	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	39	7.684566	0.98431	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	.	.	.	5.81	3.7	0.42460	.	0.099589	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5814	13.5274	0.61603	0.0:0.0:0.5128:0.4872	.	.	.	.	X	195;195;213;195;213	.	ENSP00000411904:R195X	R	-	1	2	CPNE4	132887417	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.939000	0.48995	1.300000	0.44818	0.638000	0.83543	CGA		0.378	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		17	27	0	0	0	1	0	17	27					A	131404727	G	A	131404727	4	1	10	1	0	0	0	0	0	1	0	0	3816	1124	39	1	1134	1	CPNE4	3	131404727	Nonsense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	29868996	131404727	66617703	30	638										
ZBTB38	253461	broad.mit.edu	37	chr3	141163673	141163673	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ttgctgaagaaaccagcaaaAttgaaacctacattgcaaaa	6	8	0	3			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:141163673A>G	ENST00000514251.1	+	4	2722	c.2443A>G	c.(2443-2445)Att>Gtt	p.I815V	ZBTB38_ENST00000441582.2_Missense_Mutation_p.I815V|ZBTB38_ENST00000321464.5_Missense_Mutation_p.I816V					zinc finger and BTB domain containing 38											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						AACCAGCAAAATTGAAACCTA	0.433																																						ENST00000514251.1																			0				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.(2443-2445)Att>Gtt		zinc finger and BTB domain containing 38							57	55	56					3																	141163673		1852	4096	5948	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.chr3:141163673A>G	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.2443A>G	3.37:g.141163673A>G	ENSP00000426387:p.Ile815Val		Somatic				ZBTB38_ENST00000321464.5_Missense_Mutation_p.I816V|ZBTB38_ENST00000441582.2_Missense_Mutation_p.I815V	p.I815V			WXS	Illumina GAIIx	Phase_I	Q8NAP3	ZBT38_HUMAN			4	2722	+			815						Missense_Mutation	SNP	ENST00000514251.1	37	c.2443A>G	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.438711	0.43326	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.08896	3.04;3.04;3.04	5.48	5.48	0.80851	.	0.061033	0.64402	D	0.000009	T	0.09379	0.0231	L	0.44542	1.39	0.33904	D	0.638815	B;B	0.26195	0.144;0.144	B;B	0.21546	0.035;0.035	T	0.13388	-1.0511	9	.	.	.	-18.6765	15.5602	0.76237	1.0:0.0:0.0:0.0	.	816;815	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	V	815;815;816	ENSP00000426387:I815V;ENSP00000406955:I815V;ENSP00000372635:I816V	.	I	+	1	0	ZBTB38	142646363	1.000000	0.71417	0.989000	0.46669	0.967000	0.64934	7.927000	0.87577	2.080000	0.62538	0.491000	0.48974	ATT		0.433	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			6	75	0	0	0	1	0	6	75					G	141163673	A	G	141163673	3	3	10	1	0	0	0	0	1	0	0	0	17554	101	4	4	2445	4	ZBTB38	3	141163673	Missense_Mutation	SNP	A	TCGA-N5-A4RT-01A-11D-A28R-08	9758946	141163673	56858757	31	639										
BCHE	590	broad.mit.edu	37	chr3	165547849	165547849	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	tggcatgtcagtgagaaaatCaccatccacggtcggaccaa	10	11	2	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:165547849C>A	ENST00000264381.3	-	2	1139	c.973G>T	c.(973-975)Gat>Tat	p.D325Y	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	325					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)	GTGAGAAAATCACCATCCACG	0.383																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(973-975)Gat>Tat		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)						36	38	38					3																	165547849		2202	4298	6500	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.chr3:165547849C>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.973G>T	3.37:g.165547849C>A	ENSP00000264381:p.Asp325Tyr		Somatic				BCHE_ENST00000540653.1_Intron	p.D325Y	NM_000055.2	NP_000046.1	WXS	Illumina GAIIx	Phase_I	P06276	CHLE_HUMAN			2	1139	-			325					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.973G>T	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983811	0.35036	.	.	ENSG00000114200	ENST00000264381	D	0.96554	-4.05	5.42	5.42	0.78866	Carboxylesterase, type B (1);	0.047628	0.85682	D	0.000000	D	0.96592	0.8888	L	0.48362	1.52	0.80722	D	1	P	0.41498	0.752	P	0.53313	0.723	D	0.96480	0.9355	10	0.49607	T	0.09	.	18.1948	0.89818	0.0:1.0:0.0:0.0	.	325	P06276	CHLE_HUMAN	Y	325	ENSP00000264381:D325Y	ENSP00000264381:D325Y	D	-	1	0	BCHE	167030543	1.000000	0.71417	0.980000	0.43619	0.587000	0.36485	5.336000	0.65935	2.546000	0.85860	0.655000	0.94253	GAT		0.383	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			60	2	1	0	1.54043e-34	1	1.96281e-34	60	2					A	165547849	C	A	165547849	3	1	10	1	0	0	0	0	1	0	0	0	1358	826	29	2	847	2	BCHE	3	165547849	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	24384176	165547849	32474581	32	640										
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	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	tctttgtgcaacctacgtgaAtgtaaatattcgagacattg	8	7	1	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	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			70	2	0	0	0	1	0	70	2					T	178921552	A	T	178921552	3	4	10	1	0	0	0	0	1	0	0	0	11922	101	4	4	1048	4	PIK3CA	3	178921552	Missense_Mutation	SNP	A	TCGA-N5-A4RT-01A-11D-A28R-08	13373703	178921552	19100878	33	641										
SLC26A1	10861	broad.mit.edu	37	chr4	982659	982659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ggcctccagctccctgtggcGggctcgtgctgtctgcacgg	15	15	1	0	rs548078722		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:982659G>A	ENST00000361661.2	-	4	2445	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000247933.4_Intron|IDUA_ENST00000509744.1_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.R690C|IDUA_ENST00000453894.1_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	690					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)			TCCCTGTGGCGGGCTCGTGCT	0.677													G|||	1	0.000199681	8e-04	0	5008	,	,		16966	0		0	False		,,,				2504	0					ENST00000361661.2																			0				central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8						c.(2068-2070)Cgc>Tgc		solute carrier family 26 (anion exchanger), member 1							17	15	16					4																	982659		2168	4259	6427	SO:0001583	missense	10861					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity	g.chr4:982659G>A	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.2068C>T	4.37:g.982659G>A	ENSP00000354721:p.Arg690Cys		Somatic				SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000509744.1_Intron|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.R690C|IDUA_ENST00000247933.4_Intron	p.R690C	NM_213613.2	NP_998778.1	WXS	Illumina GAIIx	Phase_I	Q9H2B4	S26A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		4	2445	-			690					A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	ENST00000361661.2	37	c.2068C>T	CCDS33934.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.549002	0.27652	.	.	ENSG00000145217	ENST00000361661;ENST00000398516	D;D	0.94092	-3.35;-3.35	4.13	2.1	0.27182	Sulphate transporter/antisigma-factor antagonist STAS (1);	0.515553	0.20765	N	0.086092	D	0.90665	0.7072	L	0.42686	1.345	0.30314	N	0.788216	D	0.61080	0.989	P	0.49502	0.613	D	0.87097	0.2176	10	0.66056	D	0.02	.	7.4507	0.27237	0.0:0.1487:0.6267:0.2246	.	690	Q9H2B4	S26A1_HUMAN	C	690	ENSP00000354721:R690C;ENSP00000381528:R690C	ENSP00000354721:R690C	R	-	1	0	SLC26A1	972659	0.111000	0.22076	0.965000	0.40720	0.180000	0.23129	-0.129000	0.10515	0.729000	0.32403	-0.371000	0.07208	CGC		0.677	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		3	23	0	0	0	1	0	3	23					A	982659	G	A	982659	3	1	10	1	0	0	0	0	1	0	0	0	14529	1116	39	1	144	1	SLC26A1	4	982659	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08		982659	190171617	34	642										
TACC3	10460	broad.mit.edu	37	chr4	1729792	1729792	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gagactccgcacggagccgaGgaagaatgcaaagcggagac	15	10	0	3			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:1729792G>C	ENST00000313288.4	+	4	769	c.663G>C	c.(661-663)gaG>gaC	p.E221D		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	221					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ACGGAGCCGAGGAAGAATGCA	0.617																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(661-663)gaG>gaC		transforming, acidic coiled-coil containing protein 3							20	23	22					4																	1729792		2201	4297	6498	SO:0001583	missense	10460					centrosome		g.chr4:1729792G>C	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.663G>C	4.37:g.1729792G>C	ENSP00000326550:p.Glu221Asp		Somatic					p.E221D	NM_006342.2	NP_006333.1	WXS	Illumina GAIIx	Phase_I	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	769	+		Breast(71;0.212)|all_epithelial(65;0.241)	221					Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.663G>C	CCDS3352.1	.	.	.	.	.	.	.	.	.	.	G	8.720	0.914022	0.17907	.	.	ENSG00000013810	ENST00000313288;ENST00000493975;ENST00000458173	T;T;T	0.48201	2.91;0.9;0.82	4.45	-7.66	0.01277	.	1.893040	0.03062	N	0.156031	T	0.25606	0.0623	N	0.25647	0.755	0.09310	N	1	B;B	0.19817	0.039;0.009	B;B	0.18561	0.022;0.01	T	0.13098	-1.0522	10	0.13853	T	0.58	.	2.4401	0.04492	0.2786:0.3301:0.2881:0.1031	.	221;221	B4DYJ1;Q9Y6A5	.;TACC3_HUMAN	D	221	ENSP00000326550:E221D;ENSP00000418095:E221D;ENSP00000415914:E221D	ENSP00000326550:E221D	E	+	3	2	TACC3	1699590	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.982000	0.03762	-1.665000	0.01477	0.563000	0.77884	GAG		0.617	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			16	123	0	0	0	1	0	16	123					C	1729792	G	C	1729792	3	2	10	1	0	0	0	0	1	0	0	0	15518	991	35	5	673	5	TACC3	4	1729792	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	747133	1729792	189424484	35	643										
ZNF518B	85460	broad.mit.edu	37	chr4	10445496	10445496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	aaaggctgtaagtctgagtcCgcctgtctcacagggcaaaa	11	10	2	1	rs201909475		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:10445496C>T	ENST00000326756.3	-	3	2895	c.2457G>A	c.(2455-2457)gcG>gcA	p.A819A		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	819					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						AGTCTGAGTCCGCCTGTCTCA	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.(2455-2457)gcG>gcA		zinc finger protein 518B							95	94	94					4																	10445496		2203	4300	6503	SO:0001819	synonymous_variant	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445496C>T	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2457G>A	4.37:g.10445496C>T			Somatic					p.A819A	NM_053042.2	NP_444270.2	WXS	Illumina GAIIx	Phase_I	Q9C0D4	Z518B_HUMAN			3	2895	-			819					Q96LN8	Silent	SNP	ENST00000326756.3	37	c.2457G>A	CCDS33960.1																																																																																				0.468	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		18	73	0	0	0	1	0	18	73					T	10445496	C	T	10445496	2	4	10	1	0	0	0	0	0	0	0	1	17978	639	23	1		1	ZNF518B	4	10445496	Silent	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	8715704	10445496	180708780	36	644										
ADAMTS3	9508	broad.mit.edu	37	chr4	73205322	73205322	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ttgtaatcgttttctcccgcGtgtctgcggcgtctcattgt	10	11	3	0	rs142264188		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:73205322G>C	ENST00000286657.4	-	5	786	c.750C>G	c.(748-750)caC>caG	p.H250Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	250					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)			TTTCTCCCGCGTGTCTGCGGC	0.502																																					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.(748-750)caC>caG		ADAM metallopeptidase with thrombospondin type 1 motif, 3							262	250	254					4																	73205322		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.chr4:73205322G>C	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.750C>G	4.37:g.73205322G>C	ENSP00000286657:p.His250Gln		Somatic					p.H250Q	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)		5	786	-			250					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.750C>G	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	9.278	1.047489	0.19827	.	.	ENSG00000156140	ENST00000286657	T	0.60797	0.16	5.31	-1.59	0.08453	.	0.061074	0.64402	D	0.000005	T	0.69287	0.3094	M	0.73217	2.22	0.48452	D	0.999654	D	0.69078	0.997	D	0.69824	0.966	T	0.69789	-0.5050	10	0.59425	D	0.04	.	12.408	0.55451	0.5981:0.0:0.4019:0.0	.	250	O15072	ATS3_HUMAN	Q	250	ENSP00000286657:H250Q	ENSP00000286657:H250Q	H	-	3	2	ADAMTS3	73424186	0.778000	0.28640	0.316000	0.25252	0.020000	0.10135	-0.010000	0.12743	-0.307000	0.08804	-0.251000	0.11542	CAC		0.502	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			6	247	0	0	0	1	0	6	247					C	73205322	G	C	73205322	3	2	10	1	0	0	0	0	1	0	0	0	267	1136	40	5	2939	5	ADAMTS3	4	73205322	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	62759826	73205322	117948954	37	645										
COX18	285521	broad.mit.edu	37	chr4	73930519	73930519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	actattaacaaattgatgacGccaacagagataggcagaat	8	7	0	4	rs61741433	byFrequency	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:73930519G>A	ENST00000295890.4	-	4	787	c.696C>T	c.(694-696)ggC>ggT	p.G232G	COX18_ENST00000507544.2_Silent_p.G233G	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	232					protein insertion into mitochondrial membrane (GO:0051204)|protein transport (GO:0015031)|respiratory chain complex IV assembly (GO:0008535)	integral component of mitochondrial inner membrane (GO:0031305)	protein transporter activity (GO:0008565)			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATTGATGACGCCAACAGAGA	0.408													G|||	13	0.00259585	0.0083	0.0029	5008	,	,		17544	0		0	False		,,,				2504	0					ENST00000295890.4																			0				large_intestine(4)|lung(2)	6						c.(694-696)ggC>ggT		COX18 cytochrome C oxidase assembly factor		G		50,4356	50.9+/-86.3	0,50,2153	73	71	72		696	1	1	4	dbSNP_129	72	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	COX18	NM_173827.2		0,52,6451	AA,AG,GG		0.0233,1.1348,0.3998		232/334	73930519	52,12954	2203	4300	6503	SO:0001819	synonymous_variant	285521				protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity	g.chr4:73930519G>A	AY957564	CCDS3554.1, CCDS75139.1	4q13.3	2013-06-12	2013-06-12		ENSG00000163626	ENSG00000163626		"Mitochondrial respiratory chain complex assembly factors"	26801	protein-coding gene	gene with protein product		610428	"COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)", "cytochrome c oxidase assembly homolog 18 (yeast)"			16212937, 16911509	Standard	XM_005265679		Approved	FLJ38991	uc003hgm.1	Q8N8Q8	OTTHUMG00000129917	ENST00000295890.4:c.696C>T	4.37:g.73930519G>A			Somatic				COX18_ENST00000507544.2_Silent_p.G233G	p.G232G	NM_173827.2	NP_776188.1	WXS	Illumina GAIIx	Phase_I	Q8N8Q8	COX18_HUMAN	Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	787	-	Breast(15;0.00096)		232					Q2PB66|Q2PB67|Q2PB68|Q49B97|Q6IPP9	Silent	SNP	ENST00000295890.4	37	c.696C>T	CCDS3554.1																																																																																				0.408	COX18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252169.2	NM_173827		4	66	0	0	0	1	0	4	66					A	73930519	G	A	73930519	2	1	10	1	0	0	0	0	0	0	0	1	3769	1074	38	1		1	COX18	4	73930519	Silent	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	725197	73930519	117223757	38	646										
PRDM5	11107	broad.mit.edu	37	chr4	121739545	121739545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cttaactgggaatttcttccCacagttcttgcacttaaatt	5	10	2	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:121739545C>A	ENST00000264808.3	-	5	853	c.613G>T	c.(613-615)Ggg>Tgg	p.G205W	PRDM5_ENST00000428209.2_Missense_Mutation_p.G205W|PRDM5_ENST00000515109.1_Missense_Mutation_p.G205W	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	205					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						AATTTCTTCCCACAGTTCTTG	0.373																																						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.(613-615)Ggg>Tgg		PR domain containing 5							93	88	90					4																	121739545		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.chr4:121739545C>A	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.613G>T	4.37:g.121739545C>A	ENSP00000264808:p.Gly205Trp		Somatic				PRDM5_ENST00000515109.1_Missense_Mutation_p.G205W|PRDM5_ENST00000428209.2_Missense_Mutation_p.G205W	p.G205W	NM_018699.2	NP_061169.2	WXS	Illumina GAIIx	Phase_I	Q9NQX1	PRDM5_HUMAN			5	853	-			205					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.613G>T	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581702	0.86748	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.60040	0.22;0.22;0.22	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.79293	0.4421	M	0.82193	2.58	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	0.82394	-0.0479	10	0.87932	D	0	-30.627	19.0126	0.92879	0.0:1.0:0.0:0.0	.	205;205;205	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	W	205	ENSP00000264808:G205W;ENSP00000422309:G205W;ENSP00000404832:G205W	ENSP00000264808:G205W	G	-	1	0	PRDM5	121958995	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.516000	0.60496	2.498000	0.84270	0.555000	0.69702	GGG		0.373	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			9	17	1	0	0.000442599	1	0.000463117	9	17					A	121739545	C	A	121739545	3	1	10	1	0	0	0	0	1	0	0	0	12472	594	21	5	1327	5	PRDM5	4	121739545	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	47809026	121739545	69414731	39	647										
C4orf31	79625	broad.mit.edu	37	chr4	121958225	121958225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gtcgggtttcagatcagagaCggtgaagatgttcttgtttc	13	6	3	4			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:121958225C>T	ENST00000379692.4	-	4	1427	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	301	Fibronectin type-III 1.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGATCAGAGACGGTGAAGATG	0.463																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(901-903)Gtc>Atc		neuron-derived neurotrophic factor							139	129	132					4																	121958225		2203	4300	6503	SO:0001583	missense	79625							g.chr4:121958225C>T	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 31"	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.901G>A	4.37:g.121958225C>T	ENSP00000369014:p.Val301Ile		Somatic					p.V301I	NM_024574.3	NP_078850.3	WXS	Illumina GAIIx	Phase_I	Q8TB73	CD031_HUMAN			4	1427	-			301			Fibronectin type-III 1.		A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.901G>A	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932812	0.34096	.	.	ENSG00000173376	ENST00000379692	T	0.52983	0.64	5.88	4.16	0.48862	.	0.163222	0.53938	N	0.000041	T	0.37461	0.1004	L	0.36672	1.1	0.58432	D	0.999994	B	0.11235	0.004	B	0.08055	0.003	T	0.10314	-1.0635	10	0.35671	T	0.21	-18.9792	12.1868	0.54243	0.0:0.8632:0.0:0.1368	.	301	Q8TB73	NDNF_HUMAN	I	301	ENSP00000369014:V301I	ENSP00000369014:V301I	V	-	1	0	NDNF	122177675	0.981000	0.34729	0.821000	0.32701	0.991000	0.79684	2.575000	0.46025	0.822000	0.34565	0.655000	0.94253	GTC		0.463	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		18	18	0	0	0	1	0	18	18					T	121958225	C	T	121958225	3	4	10	1	0	0	0	0	1	0	0	0	2263	536	19	1	809	1	C4orf31	4	121958225	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	218680	121958225	69196051	40	648										
TBC1D9	23158	broad.mit.edu	37	chr4	141578966	141578966	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	caccttggtccaccagtgcaCctgtggcagcgatgtataca	10	13	0	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:141578966C>T	ENST00000442267.2	-	12	1996	c.1922G>A	c.(1921-1923)gGt>gAt	p.G641D		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	641	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CACCAGTGCACCTGTGGCAGC	0.502																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.e12-1		TBC1 domain family, member 9 (with GRAM domain)							166	162	164					4																	141578966		2122	4241	6363	SO:0001630	splice_region_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141578966C>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1922-1G>A	4.37:g.141578966C>T			Somatic					p.G641_splice	NM_015130.2	NP_055945.2	WXS	Illumina GAIIx	Phase_I	Q6ZT07	TBCD9_HUMAN			12	1996	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	641			Rab-GAP TBC.		A6H8U8|D3DNZ1|O94958	Splice_Site	SNP	ENST00000442267.2	37	c.1921_splice	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689663	0.88735	.	.	ENSG00000109436	ENST00000442267	T	0.13657	2.57	5.63	5.63	0.86233	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.48502	0.1503	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57283	-0.7838	10	0.87932	D	0	.	19.6978	0.96034	0.0:1.0:0.0:0.0	.	641	Q6ZT07	TBCD9_HUMAN	D	641	ENSP00000411197:G641D	ENSP00000411197:G641D	G	-	2	0	TBC1D9	141798416	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	7.770000	0.85390	2.649000	0.89929	0.650000	0.86243	GGT		0.502	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130	Missense_Mutation	41	78	0	0	0	1	0	41	78					T	141578966	C	T	141578966	5	4	10	1	0	0	0	0	0	0	1	0	15642	521	18	3	1918	3	TBC1D9	4	141578966	Splice_Site	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	19620741	141578966	49575310	41	649										
FBXW7	55294	broad.mit.edu	37	chr4	153250906	153250906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	taccacaaaactgtaagcatGtgatcacatgatcatcatgt	6	9	3	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:153250906G>A	ENST00000281708.4	-	8	2383	c.1154C>T	c.(1153-1155)aCa>aTa	p.T385I	FBXW7_ENST00000393956.3_Missense_Mutation_p.T209I|FBXW7_ENST00000603841.1_Missense_Mutation_p.T385I|FBXW7_ENST00000296555.5_Missense_Mutation_p.T267I|FBXW7_ENST00000263981.5_Missense_Mutation_p.T305I|FBXW7_ENST00000603548.1_Missense_Mutation_p.T385I	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	385					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTGTAAGCATGTGATCACATG	0.343			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1153-1155)aCa>aTa		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							120	108	112					4																	153250906		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153250906G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1154C>T	4.37:g.153250906G>A	ENSP00000281708:p.Thr385Ile		Somatic				FBXW7_ENST00000603841.1_Missense_Mutation_p.T385I|FBXW7_ENST00000263981.5_Missense_Mutation_p.T305I|FBXW7_ENST00000296555.5_Missense_Mutation_p.T267I|FBXW7_ENST00000393956.3_Missense_Mutation_p.T209I|FBXW7_ENST00000603548.1_Missense_Mutation_p.T385I	p.T385I	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			8	2383	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	385					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1154C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702173	0.88924	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.99	5.99	0.97316	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79776	0.4504	M	0.65498	2.005	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	0.79685	-0.1700	10	0.87932	D	0	-15.0332	20.5373	0.99239	0.0:0.0:1.0:0.0	.	209;385;267;305	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	I	385;267;305;209	ENSP00000281708:T385I;ENSP00000296555:T267I;ENSP00000263981:T305I;ENSP00000377528:T209I	ENSP00000263981:T305I	T	-	2	0	FBXW7	153470356	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.865000	0.99609	2.857000	0.98124	0.650000	0.86243	ACA		0.343	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			24	17	0	0	0	1	0	24	17					A	153250906	G	A	153250906	3	1	10	1	0	0	0	0	1	0	0	0	5777	1377	48	3	989	3	FBXW7	4	153250906	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	11671940	153250906	37903370	42	650										
CLPTM1L	81037	broad.mit.edu	37	chr5	1318557	1318557	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cgttcactctgcgtttatccAcaggataaagcctgcaatga	8	11	2	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:1318557A>C	ENST00000320895.5	-	17	1801	c.1544T>G	c.(1543-1545)gTg>gGg	p.V515G	CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.V479G|CLPTM1L_ENST00000507807.1_Missense_Mutation_p.V346G	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	515					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GCGTTTATCCACAGGATAAAG	0.562																																						ENST00000320895.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1543-1545)gTg>gGg		CLPTM1-like							54	54	54					5																	1318557		2203	4300	6503	SO:0001583	missense	81037				apoptosis	integral to membrane		g.chr5:1318557A>C	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1544T>G	5.37:g.1318557A>C	ENSP00000313854:p.Val515Gly		Somatic				CLPTM1L_ENST00000507807.1_Missense_Mutation_p.V346G|CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.V479G	p.V515G	NM_030782.3	NP_110409.2	WXS	Illumina GAIIx	Phase_I	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	17	1801	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		515					D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	ENST00000320895.5	37	c.1544T>G	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.286301	0.80803	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.56941	0.43;0.58;0.55	5.49	5.49	0.81192	.	0.184362	0.46442	D	0.000288	T	0.77356	0.4118	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82653	-0.0351	10	0.87932	D	0	-27.3208	14.5515	0.68070	1.0:0.0:0.0:0.0	.	515;346	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	G	515;346;479	ENSP00000313854:V515G;ENSP00000423321:V346G;ENSP00000315196:V479G	ENSP00000313854:V515G	V	-	2	0	CLPTM1L	1371557	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.455000	0.80726	2.076000	0.62316	0.459000	0.35465	GTG		0.562	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		7	63	0	0	0	1	0	7	63					C	1318557	A	C	1318557	3	2	10	1	0	0	0	0	1	0	0	0	3557	159	6	4	76	4	CLPTM1L	5	1318557	Missense_Mutation	SNP	A	TCGA-N5-A4RT-01A-11D-A28R-08		1318557	179596703	43	651										
PRDM9	56979	broad.mit.edu	37	chr5	23526781	23526781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gcaaaagtcaagtatggagaGtgtggacaaggtttcagtgt	14	4	2	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:23526781G>A	ENST00000296682.3	+	11	1766	c.1584G>A	c.(1582-1584)gaG>gaA	p.E528E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	528					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						AGTATGGAGAGTGTGGACAAG	0.458										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.(1582-1584)gaG>gaA		PR domain containing 9							104	107	106					5																	23526781		2104	4260	6364	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.chr5:23526781G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1584G>A	5.37:g.23526781G>A		HNSCC(3;0.000094)	Somatic					p.E528E	NM_020227.2	NP_064612.2	WXS	Illumina GAIIx	Phase_I	Q9NQV7	PRDM9_HUMAN			11	1766	+			528					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.1584G>A	CCDS43307.1																																																																																				0.458	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		49	55	0	0	0	1	0	49	55					A	23526781	G	A	23526781	2	1	10	1	0	0	0	0	0	0	0	1	12475	1020	36	3		3	PRDM9	5	23526781	Silent	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	22208224	23526781	157388479	44	652										
CDH9	1007	broad.mit.edu	37	chr5	26881282	26881282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	catcacccccatacatatcgGcaagttttttgaaacgaggc	7	12	1	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:26881282G>A	ENST00000231021.4	-	12	2505	c.2333C>T	c.(2332-2334)gCc>gTc	p.A778V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	778					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						ATACATATCGGCAAGTTTTTT	0.413																																					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.(2332-2334)gCc>gTc		cadherin 9, type 2 (T1-cadherin)							138	133	135					5																	26881282		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881282G>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.2333C>T	5.37:g.26881282G>A	ENSP00000231021:p.Ala778Val		Somatic					p.A778V	NM_016279.3	NP_057363.3	WXS	Illumina GAIIx	Phase_I	Q9ULB4	CADH9_HUMAN			12	2505	-			778					Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.2333C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473890	0.84640	.	.	ENSG00000113100	ENST00000231021	D	0.87491	-2.26	5.26	5.26	0.73747	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.95414	0.8511	H	0.94964	3.605	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	D	0.96611	0.9452	9	.	.	.	.	17.4441	0.87574	0.0:0.0:1.0:0.0	.	371;778	B4DFP0;Q9ULB4	.;CADH9_HUMAN	V	778	ENSP00000231021:A778V	.	A	-	2	0	CDH9	26917039	1.000000	0.71417	0.731000	0.30826	0.938000	0.57974	9.835000	0.99442	2.456000	0.83038	0.557000	0.71058	GCC		0.413	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		129	67	0	0	0	1	0	129	67					A	26881282	G	A	26881282	3	1	10	1	0	0	0	0	1	0	0	0	3119	1203	42	3	40	3	CDH9	5	26881282	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	3354501	26881282	154033978	45	653										
PDZD2	23037	broad.mit.edu	37	chr5	32074556	32074556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gcagaaaagtgaaggcctggGctccaggcacagaccagtgg	15	10	0	3			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:32074556G>A	ENST00000438447.1	+	18	3732	c.3344G>A	c.(3343-3345)gGc>gAc	p.G1115D	PDZD2_ENST00000282493.3_Missense_Mutation_p.G1115D			O15018	PDZD2_HUMAN	PDZ domain containing 2	1115					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						GAAGGCCTGGGCTCCAGGCAC	0.597																																						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.(3343-3345)gGc>gAc		PDZ domain containing 2							58	63	61					5																	32074556		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32074556G>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.3344G>A	5.37:g.32074556G>A	ENSP00000402033:p.Gly1115Asp		Somatic				PDZD2_ENST00000282493.3_Missense_Mutation_p.G1115D	p.G1115D			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			18	3732	+			1115					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.3344G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738265	0.30774	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07021	3.23;3.23	5.8	-2.53	0.06326	.	0.638340	0.14064	N	0.343833	T	0.05410	0.0143	L	0.47716	1.5	0.09310	N	1	B;P	0.34462	0.03;0.454	B;B	0.32864	0.046;0.154	T	0.40979	-0.9534	10	0.14252	T	0.57	.	4.1192	0.10098	0.072:0.2048:0.2564:0.4667	.	941;1115	B4E3P2;O15018	.;PDZD2_HUMAN	D	1115;917;1115	ENSP00000402033:G1115D;ENSP00000282493:G1115D	ENSP00000282493:G1115D	G	+	2	0	PDZD2	32110313	0.187000	0.23238	0.003000	0.11579	0.000000	0.00434	0.327000	0.19663	-0.490000	0.06707	-1.943000	0.00494	GGC		0.597	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			5	213	0	0	0	1	0	5	213					A	32074556	G	A	32074556	3	1	10	1	0	0	0	0	1	0	0	0	11710	1203	42	3	3410	3	PDZD2	5	32074556	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	5193274	32074556	148840704	46	654										
HCN1	348980	broad.mit.edu	37	chr5	45396744	45396744	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	actggggcttgggctccataCccaatgcacagcatgtgact	11	12	0	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:45396744C>A	ENST00000303230.4	-	4	1137	c.1080G>T	c.(1078-1080)ggG>ggT	p.G360G		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	360					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						GGGCTCCATACCCAATGCACA	0.478																																						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.(1078-1080)ggG>ggT		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							108	93	98					5																	45396744		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45396744C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1080G>T	5.37:g.45396744C>A			Somatic					p.G360G	NM_021072.3	NP_066550.2	WXS	Illumina GAIIx	Phase_I	O60741	HCN1_HUMAN			4	1137	-			360						Silent	SNP	ENST00000303230.4	37	c.1080G>T	CCDS3952.1																																																																																				0.478	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		29	95	1	0	4.87955e-14	1	5.93054e-14	29	95					A	45396744	C	A	45396744	2	1	10	1	0	0	0	0	0	0	0	1	7005	494	18	5		5	HCN1	5	45396744	Silent	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	13322188	45396744	135518516	47	655										
DSP	1832	broad.mit.edu	37	chr6	7581043	7581043	+	Frame_Shift_Del	DEL	C	C	-													0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gaactgacacgcctgaggatCgactatgaaagggtttccca							TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:7581043delC	ENST00000379802.3	+	23	4961	c.4620delC	c.(4618-4620)atcfs	p.I1540fs	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1540	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCCTGAGGATCGACTATGAAA	0.502																																						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.(4618-4620)atfs		desmoplakin							115	117	116					6																	7581043		2203	4300	6503	SO:0001589	frameshift_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7581043delC	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.4620delC	6.37:g.7581043delC	ENSP00000369129:p.Ile1540fs		Somatic				DSP_ENST00000418664.2_Intron	p.I1540fs	NM_004415.2	NP_004406.2	WXS	Illumina GAIIx	Phase_I	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4961	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1540			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Frame_Shift_Del	DEL	ENST00000379802.3	37	c.4620delC	CCDS4501.1																																																																																				0.502	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		66	177						66	177	---	---	---	---	-	7581043	C	-	7581043	7	5	10	1	0	1	0	1	0	0	0	0	4783	874	31	0	4710	0	DSP	6	7581043	Frame_Shift_Del	DEL	C	TCGA-N5-A4RT-01A-11D-A28R-08		7581043	163534024	48	656										
HCRTR2	3062	broad.mit.edu	37	chr6	55142223	55142223	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	agagaaaatggaagcccctgCagcctgtttcacagcctcga	10	12	1	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:55142223C>A	ENST00000370862.3	+	5	1144	c.808C>A	c.(808-810)Cag>Aag	p.Q270K		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	270					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)			GAAGCCCCTGCAGCCTGTTTC	0.507																																						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.(808-810)Cag>Aag		hypocretin (orexin) receptor 2							59	64	63					6																	55142223		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55142223C>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.808C>A	6.37:g.55142223C>A	ENSP00000359899:p.Gln270Lys		Somatic					p.Q270K	NM_001526.3	NP_001517.2	WXS	Illumina GAIIx	Phase_I	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	1144	+	Lung NSC(77;0.107)|Renal(3;0.122)		270					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.808C>A	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226989	0.58668	.	.	ENSG00000137252	ENST00000370862	T	0.60920	0.15	6.06	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.279951	0.41396	D	0.000898	T	0.35856	0.0946	L	0.53729	1.69	0.58432	D	0.999998	B	0.17667	0.023	B	0.20384	0.029	T	0.22695	-1.0209	10	0.08599	T	0.76	.	16.2639	0.82565	0.0:0.9269:0.0:0.0731	.	270	O43614	OX2R_HUMAN	K	270	ENSP00000359899:Q270K	ENSP00000359899:Q270K	Q	+	1	0	HCRTR2	55250182	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.476000	0.60216	2.880000	0.98712	0.650000	0.86243	CAG		0.507	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			14	47	1	0	0.000151284	1	0.000161506	14	47					A	55142223	C	A	55142223	3	1	10	1	0	0	0	0	1	0	0	0	7011	711	25	5	826	5	HCRTR2	6	55142223	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	47561180	55142223	115972844	49	657										
COL19A1	1310	broad.mit.edu	37	chr6	70646733	70646733	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	tcatgggtaactgctcatgcCagtaaaatgtcttcatatct	7	9	5	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:70646733C>A	ENST00000322773.4	+	8	906	c.804C>A	c.(802-804)gcC>gcA	p.A268A		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	268					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						CTGCTCATGCCAGTAAAATGT	0.418																																						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.(802-804)gcC>gcA		collagen, type XIX, alpha 1							170	160	164					6																	70646733		2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70646733C>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.804C>A	6.37:g.70646733C>A			Somatic					p.A268A	NM_001858.4	NP_001849.2	WXS	Illumina GAIIx	Phase_I	Q14993	COJA1_HUMAN			8	906	+			268					Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.804C>A	CCDS4970.1																																																																																				0.418	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			6	83	1	0	3.59834e-05	1	3.94817e-05	6	83					A	70646733	C	A	70646733	2	1	10	1	0	0	0	0	0	0	0	1	3678	581	21	5		5	COL19A1	6	70646733	Silent	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	15504510	70646733	100468334	50	658										
SLC17A5	26503	broad.mit.edu	37	chr6	74363526	74363526	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cgccgcttaccggcttcggcCcgtggggcgcccggtagaag	16	15	0	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:74363526C>A	ENST00000355773.5	-	1	352	c.84G>T	c.(82-84)cgG>cgT	p.R28R	SLC17A5_ENST00000393019.3_Silent_p.R28R	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	28					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						CGGCTTCGGCCCGTGGGGCGC	0.726																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(82-84)cgG>cgT		solute carrier family 17 (acidic sugar transporter), member 5							8	10	10					6																	74363526		2114	4187	6301	SO:0001819	synonymous_variant	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74363526C>A	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.84G>T	6.37:g.74363526C>A			Somatic				SLC17A5_ENST00000393019.3_Silent_p.R28R	p.R28R	NM_012434.4	NP_036566.1	WXS	Illumina GAIIx	Phase_I	Q9NRA2	S17A5_HUMAN			1	352	-			28					Q5SZ76|Q8NBR5|Q9UGH0	Silent	SNP	ENST00000355773.5	37	c.84G>T	CCDS4981.1																																																																																				0.726	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			3	6	1	0	0.115264	1	0.115264	3	6					A	74363526	C	A	74363526	2	1	10	1	0	0	0	0	0	0	0	1	14435	610	22	5		5	SLC17A5	6	74363526	Silent	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	3716793	74363526	96751541	51	659										
REV3L	5980	broad.mit.edu	37	chr6	111650901	111650901	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	taaatctagtcttcaaaattTcttcaagcattcttggtagt	5	7	6	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:111650901T>G	ENST00000358835.3	-	26	8529	c.8075A>C	c.(8074-8076)gAa>gCa	p.E2692A	REV3L_ENST00000435970.1_Missense_Mutation_p.E2614A|REV3L_ENST00000368805.1_Missense_Mutation_p.E2692A|REV3L_ENST00000368802.3_Missense_Mutation_p.E2692A			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2692					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCAAAATTTCTTCAAGCAT	0.363								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(7840-7842)gAa>gCa	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							109	100	103					6																	111650901		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111650901T>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.8075A>C	6.37:g.111650901T>G	ENSP00000351697:p.Glu2692Ala		Somatic				REV3L_ENST00000368805.1_Missense_Mutation_p.E2692A|REV3L_ENST00000358835.3_Missense_Mutation_p.E2692A|REV3L_ENST00000368802.3_Missense_Mutation_p.E2692A	p.E2614A			WXS	Illumina GAIIx	Phase_I	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	27	8657	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2692					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.7841A>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176755	0.78564	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.76	5.76	0.90799	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.180141	0.48767	D	0.000174	T	0.41166	0.1147	M	0.76938	2.355	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.43278	-0.9401	10	0.87932	D	0	-9.2604	16.0817	0.81010	0.0:0.0:0.0:1.0	.	2692	O60673	DPOLZ_HUMAN	A	2692;2692;2692;2614	ENSP00000357792:E2692A;ENSP00000357795:E2692A;ENSP00000351697:E2692A;ENSP00000402003:E2614A	ENSP00000351697:E2692A	E	-	2	0	REV3L	111757594	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.945000	0.87732	2.206000	0.71126	0.383000	0.25322	GAA		0.363	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		27	27	0	0	0	1	0	27	27					G	111650901	T	G	111650901	3	3	10	1	0	0	0	0	1	0	0	0	13255	1783	62	4	1349	4	REV3L	6	111650901	Missense_Mutation	SNP	T	TCGA-N5-A4RT-01A-11D-A28R-08	37287375	111650901	59464166	52	660										
MAD1L1	8379	broad.mit.edu	37	chr7	1997278	1997278	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cctcacctgcagagctcgccGctccagctgtgcctccagca	9	19	1	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:1997278G>C	ENST00000406869.1	-	16	2139	c.1582C>G	c.(1582-1584)Cgg>Ggg	p.R528G	MAD1L1_ENST00000399654.2_Missense_Mutation_p.R528G|MAD1L1_ENST00000402746.1_Missense_Mutation_p.R436G|MAD1L1_ENST00000265854.7_Missense_Mutation_p.R528G			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	528	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)		AGAGCTCGCCGCTCCAGCTGT	0.637																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(1582-1584)Cgg>Ggg		MAD1 mitotic arrest deficient-like 1 (yeast)							43	53	50					7																	1997278		2162	4256	6418	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:1997278G>C	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.1582C>G	7.37:g.1997278G>C	ENSP00000385334:p.Arg528Gly		Somatic				MAD1L1_ENST00000265854.7_Missense_Mutation_p.R528G|MAD1L1_ENST00000402746.1_Missense_Mutation_p.R436G|MAD1L1_ENST00000399654.2_Missense_Mutation_p.R528G	p.R528G			WXS	Illumina GAIIx	Phase_I	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	16	2139	-		Ovarian(82;0.0272)	528			Necessary for interaction with NEK2.		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.1582C>G	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	G	5.843	0.339785	0.11069	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000438959	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	4.83	-0.502	0.12004	.	0.287226	0.35677	N	0.003043	T	0.29620	0.0739	M	0.68593	2.085	0.21386	N	0.999705	P;P;P	0.52170	0.951;0.951;0.855	P;P;B	0.47864	0.454;0.559;0.377	T	0.42189	-0.9466	10	0.66056	D	0.02	-27.0288	16.3075	0.82854	0.0:0.0:0.7419:0.2581	.	527;436;528	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	G	436;528;528;79;528;79;195	ENSP00000384155:R436G;ENSP00000382562:R528G;ENSP00000385334:R528G;ENSP00000265854:R528G;ENSP00000394886:R79G;ENSP00000414877:R195G	ENSP00000265854:R528G	R	-	1	2	MAD1L1	1963804	0.052000	0.20516	0.110000	0.21437	0.018000	0.09664	0.221000	0.17680	-0.024000	0.13941	-0.521000	0.04368	CGG		0.637	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		10	83	0	0	0	1	0	10	83					C	1997278	G	C	1997278	3	2	10	1	0	0	0	0	1	0	0	0	9156	1086	38	5	590	5	MAD1L1	7	1997278	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08		1997278	157141385	53	661										
HOXA4	3201	broad.mit.edu	37	chr7	27169062	27169062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	agacaaacagagcgtgtgggCgatctcgatgcggcgccgcc	15	12	1	2	rs577912292		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:27169062C>T	ENST00000360046.5	-	2	810	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	HOXA-AS3_ENST00000518848.1_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.A249T|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000317201.2_5'Flank|HOXA-AS2_ENST00000517550.1_RNA|HOXA3_ENST00000521401.1_Intron	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	249					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						AGCGTGTGGGCGATCTCGATG	0.572													C|||	1	0.000199681	8e-04	0	5008	,	,		15738	0		0	False		,,,				2504	0					ENST00000360046.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						c.(745-747)Gcc>Acc		homeobox A4							197	166	177					7																	27169062		2203	4300	6503	SO:0001583	missense	3201					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27169062C>T		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"Homeoboxes / ANTP class : HOXL subclass"	5105	protein-coding gene	gene with protein product		142953	"homeo box A4"	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.745G>A	7.37:g.27169062C>T	ENSP00000353151:p.Ala249Thr		Somatic				HOXA3_ENST00000467897.2_5'UTR|HOXA4_ENST00000428284.2_Missense_Mutation_p.A249T|HOXA-AS2_ENST00000521159.1_RNA	p.A249T	NM_002141.4	NP_002132.3	WXS	Illumina GAIIx	Phase_I	Q00056	HXA4_HUMAN			2	810	-			249					A4D180|O43366	Missense_Mutation	SNP	ENST00000360046.5	37	c.745G>A	CCDS5405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.098371|5.098371	0.94197|0.94197	.|.	.|.	ENSG00000197576|ENSG00000197576	ENST00000360046;ENST00000428284|ENST00000511914	D;D|.	0.98164|.	-4.76;-4.76|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);|.	0.087235|.	0.44097|.	D|.	0.000492|.	D|D	0.88566|0.88566	0.6471|0.6471	H|H	0.96943|0.96943	3.91|3.91	0.80722|0.80722	D|D	1|1	D|.	0.61697|.	0.99|.	P|.	0.62382|.	0.901|.	D|D	0.92378|0.92378	0.5911|0.5911	10|5	0.87932|.	D|.	0|.	.|.	18.9816|18.9816	0.92757|0.92757	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	249|.	Q00056|.	HXA4_HUMAN|.	T|H	249|68	ENSP00000353151:A249T;ENSP00000408845:A249T|.	ENSP00000353151:A249T|.	A|R	-|-	1|2	0|0	HOXA4|HOXA4	27135587|27135587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.728000|7.728000	0.84847|0.84847	2.485000|2.485000	0.83878|0.83878	0.555000|0.555000	0.69702|0.69702	GCC|CGC		0.572	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			56	60	0	0	0	1	0	56	60					T	27169062	C	T	27169062	3	4	10	1	0	0	0	0	1	0	0	0	7303	768	27	1	221	1	HOXA4	7	27169062	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	25171784	27169062	131969601	54	662										
NPC1L1	29881	broad.mit.edu	37	chr7	44574199	44574199	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cccaggaccacggccaccccGccgaggcccagcgtggcctt	12	20	0	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:44574199G>T	ENST00000289547.4	-	6	2068	c.2013C>A	c.(2011-2013)ggC>ggA	p.G671G	NPC1L1_ENST00000546276.1_Silent_p.G671G|NPC1L1_ENST00000423141.1_Silent_p.G671G|NPC1L1_ENST00000381160.3_Silent_p.G671G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	671	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)	CGGCCACCCCGCCGAGGCCCA	0.622											OREG0018038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(2011-2013)ggC>ggA		NPC1-like 1	Ezetimibe(DB00973)						60	58	59					7																	44574199		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.chr7:44574199G>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2013C>A	7.37:g.44574199G>T			Somatic	OREG0018038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925	NPC1L1_ENST00000546276.1_Silent_p.G671G|NPC1L1_ENST00000423141.1_Silent_p.G671G|NPC1L1_ENST00000381160.3_Silent_p.G671G	p.G671G	NM_013389.2	NP_037521.2	WXS	Illumina GAIIx	Phase_I	Q9UHC9	NPCL1_HUMAN			6	2068	-			671			SSD.		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.2013C>A	CCDS5491.1																																																																																				0.622	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		17	60	1	0	6.49762e-13	1	7.71898e-13	17	60					T	44574199	G	T	44574199	2	4	10	1	0	0	0	0	0	0	0	1	10580	1074	38	5		5	NPC1L1	7	44574199	Silent	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	17405137	44574199	114564464	55	663										
ZNF736	728927	broad.mit.edu	37	chr7	63796701	63796701	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	agagtgggaatgcctggactCtgctcagcagcgtttgtata	13	8	2	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:63796701C>T	ENST00000423484.2	+	2	190	c.68C>T	c.(67-69)tCt>tTt	p.S23F	ZNF736_ENST00000355095.4_Missense_Mutation_p.S23F			B4DX44	ZN736_HUMAN	zinc finger protein 736	23	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(6)|stomach(1)|urinary_tract(1)	9						TGCCTGGACTCTGCTCAGCAG	0.423																																						ENST00000355095.4																			0				breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						c.(67-69)tCt>tTt		zinc finger protein 736							58	61	60					7																	63796701		692	1591	2283	SO:0001583	missense	728927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63796701C>T		CCDS55114.1	7q11.21	2013-01-08			ENSG00000234444	ENSG00000234444		"Zinc fingers, C2H2-type", "-"	32467	protein-coding gene	gene with protein product							Standard	XM_006716104		Approved		uc011kdo.2	B4DX44	OTTHUMG00000156537	ENST00000423484.2:c.68C>T	7.37:g.63796701C>T	ENSP00000400852:p.Ser23Phe		Somatic				ZNF736_ENST00000423484.1_Missense_Mutation_p.S23F	p.S23F	NM_001170905.1	NP_001164376.1	WXS	Illumina GAIIx	Phase_I	B4DX44	ZN736_HUMAN			3	390	+			23			KRAB.			Missense_Mutation	SNP	ENST00000423484.2	37	c.68C>T	CCDS55114.1	.	.	.	.	.	.	.	.	.	.	C	8.973	0.973512	0.18736	.	.	ENSG00000234444	ENST00000355095;ENST00000423484	T;T	0.01902	4.57;4.57	0.602	0.602	0.17535	Krueppel-associated box (4);	.	.	.	.	T	0.08179	0.0204	M	0.69463	2.115	0.19300	N	0.999975	D	0.60160	0.987	D	0.67382	0.951	T	0.17961	-1.0352	7	.	.	.	.	.	.	.	.	23	B4DX44	ZN736_HUMAN	F	23	ENSP00000347210:S23F;ENSP00000400852:S23F	.	S	+	2	0	ZNF736	63434136	0.000000	0.05858	0.433000	0.26760	0.551000	0.35334	-0.370000	0.07523	0.561000	0.29186	0.313000	0.20887	TCT		0.423	ZNF736-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000344559.2	NM_001170905		25	14	0	0	0	1	0	25	14					T	63796701	C	T	63796701	3	4	10	1	0	0	0	0	1	0	0	0	18140	913	32	3	74	3	ZNF736	7	63796701	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	19222502	63796701	95341962	56	664										
MUC17	140453	broad.mit.edu	37	chr7	100677014	100677014	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ccctttcaacaactcctcttGacacaagcacacatatcacc	2	17	3	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:100677014G>A	ENST00000306151.4	+	3	2381	c.2317G>A	c.(2317-2319)Gac>Aac	p.D773N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	773	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.D773N(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)					AACTCCTCTTGACACAAGCAC	0.478																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.D773N(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.(2317-2319)Gac>Aac		mucin 17, cell surface associated							278	281	280					7																	100677014		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677014G>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.2317G>A	7.37:g.100677014G>A	ENSP00000302716:p.Asp773Asn		Somatic					p.D773N	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	2381	+	Lung NSC(181;0.136)|all_lung(186;0.182)		773			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2317G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	3.392	-0.124055	0.06795	.	.	ENSG00000169876	ENST00000306151	T	0.02890	4.12	0.932	-0.127	0.13510	.	.	.	.	.	T	0.01156	0.0038	N	0.14661	0.345	0.09310	N	1	P	0.47604	0.898	B	0.31686	0.134	T	0.45011	-0.9290	9	0.16896	T	0.51	.	2.5066	0.04646	0.2339:0.326:0.4402:0.0	.	773	Q685J3	MUC17_HUMAN	N	773	ENSP00000302716:D773N	ENSP00000302716:D773N	D	+	1	0	MUC17	100463734	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.450000	0.06803	-0.016000	0.14127	0.134000	0.15878	GAC		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		112	272	0	0	0	1	0	112	272					A	100677014	G	A	100677014	3	1	10	1	0	0	0	0	1	0	0	0	9983	1290	45	3	2327	3	MUC17	7	100677014	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	36880313	100677014	58461649	57	665										
TRIM56	81844	broad.mit.edu	37	chr7	100730756	100730756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	tggcggatggcggccgcgtcCgctgccccgagtgccgcgag	18	15	0	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:100730756C>T	ENST00000306085.6	+	3	460	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	55					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CGGCCGCGTCCGCTGCCCCGA	0.647																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(163-165)Cgc>Tgc		tripartite motif containing 56							35	46	42					7																	100730756		2129	4230	6359	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100730756C>T	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.163C>T	7.37:g.100730756C>T	ENSP00000305161:p.Arg55Cys		Somatic					p.R55C	NM_030961.1	NP_112223.1	WXS	Illumina GAIIx	Phase_I	Q9BRZ2	TRI56_HUMAN			3	460	+	Lung NSC(181;0.136)|all_lung(186;0.182)		55					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.163C>T	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774070	0.31411	.	.	ENSG00000169871	ENST00000306085;ENST00000412507	D;D	0.86164	-2.08;-2.08	3.56	3.56	0.40772	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.38111	N	0.001815	T	0.81823	0.4904	L	0.48877	1.53	0.44402	D	0.997312	B;B	0.19073	0.033;0.004	B;B	0.13407	0.009;0.002	T	0.79981	-0.1574	10	0.52906	T	0.07	.	10.9314	0.47220	0.0:1.0:0.0:0.0	.	55;55	C9JI91;Q9BRZ2	.;TRI56_HUMAN	C	55	ENSP00000305161:R55C;ENSP00000404186:R55C	ENSP00000305161:R55C	R	+	1	0	TRIM56	100517476	0.762000	0.28451	0.931000	0.37212	0.149000	0.21700	1.218000	0.32467	2.280000	0.76307	0.655000	0.94253	CGC		0.647	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		27	72	0	0	0	1	0	27	72					T	100730756	C	T	100730756	3	4	10	1	0	0	0	0	1	0	0	0	16545	652	23	1	165	1	TRIM56	7	100730756	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	53742	100730756	58407907	58	666										
EXTL3	2137	broad.mit.edu	37	chr8	28574908	28574908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gaccctcgcttggttatttcCtctgggtgtgcaacacggct	11	12	1	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:28574908C>T	ENST00000220562.4	+	3	2234	c.1332C>T	c.(1330-1332)tcC>tcT	p.S444S	EXTL3_ENST00000523149.1_Silent_p.S60S|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	444					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TGGTTATTTCCTCTGGGTGTG	0.617																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(1330-1332)tcC>tcT		exostosin-like glycosyltransferase 3							57	58	58					8																	28574908		2203	4300	6503	SO:0001819	synonymous_variant	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28574908C>T	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1332C>T	8.37:g.28574908C>T			Somatic				EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Silent_p.S60S	p.S444S	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	2234	+		Ovarian(32;0.069)	444					D3DST8|O00225|Q53XT3	Silent	SNP	ENST00000220562.4	37	c.1332C>T	CCDS6070.1																																																																																				0.617	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		4	62	0	0	0	1	0	4	62					T	28574908	C	T	28574908	2	4	10	1	0	0	0	0	0	0	0	1	5329	668	24	3		3	EXTL3	8	28574908	Silent	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08		28574908	117789114	59	667										
ASH2L	9070	broad.mit.edu	37	chr8	37985968	37985968	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	tgccagactgggttggtcccAgcccctaggtaagctggggc	15	12	0	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:37985968A>T	ENST00000343823.6	+	11	1634	c.1325A>T	c.(1324-1326)cAg>cTg	p.Q442L	ASH2L_ENST00000250635.7_Missense_Mutation_p.Q348L|ASH2L_ENST00000428278.2_Missense_Mutation_p.Q348L|ASH2L_ENST00000545394.1_Missense_Mutation_p.Q303L|ASH2L_ENST00000521652.1_Missense_Mutation_p.Q348L	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	442	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GGTTGGTCCCAGCCCCTAGGT	0.527																																						ENST00000343823.6																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19						c.(1324-1326)cAg>cTg		ash2 (absent, small, or homeotic)-like (Drosophila)							65	63	64					8																	37985968		2203	4300	6503	SO:0001583	missense	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37985968A>T	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"Zinc fingers, PHD-type"	744	protein-coding gene	gene with protein product		604782	"ash2 (absent, small, or homeotic, Drosophila, homolog)-like"	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1325A>T	8.37:g.37985968A>T	ENSP00000340896:p.Gln442Leu		Somatic				ASH2L_ENST00000521652.1_Missense_Mutation_p.Q348L|ASH2L_ENST00000428278.2_Missense_Mutation_p.Q348L|ASH2L_ENST00000250635.7_Missense_Mutation_p.Q348L|ASH2L_ENST00000545394.1_Missense_Mutation_p.Q303L	p.Q442L	NM_004674.4	NP_004665.2	WXS	Illumina GAIIx	Phase_I	Q9UBL3	ASH2L_HUMAN			11	1634	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	442			B30.2/SPRY.		A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	c.1325A>T	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.797879	0.90538	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.79	4.61	0.57282	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	0.77883	0.4197	L	0.58969	1.84	0.80722	D	1	P;D	0.59357	0.933;0.985	P;D	0.74023	0.771;0.982	T	0.79063	-0.1957	10	0.72032	D	0.01	.	13.0825	0.59121	0.8659:0.1341:0.0:0.0	.	348;442	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	L	442;348;303;348;348	ENSP00000340896:Q442L;ENSP00000250635:Q348L;ENSP00000443606:Q303L;ENSP00000395310:Q348L;ENSP00000430259:Q348L	ENSP00000250635:Q348L	Q	+	2	0	ASH2L	38105125	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.236000	0.95360	1.005000	0.39183	0.454000	0.30748	CAG		0.527	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		36	25	0	0	0	1	0	36	25					T	37985968	A	T	37985968	3	4	10	1	0	0	0	0	1	0	0	0	1042	188	7	4	1367	4	ASH2L	8	37985968	Missense_Mutation	SNP	A	TCGA-N5-A4RT-01A-11D-A28R-08	9411060	37985968	108378054	60	668										
LETM2	137994	broad.mit.edu	37	chr8	38260158	38260158	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	acaactgcgacaacagctcaCggaggcaagtagcagcgccc	11	14	1	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:38260158C>A	ENST00000379957.4	+	7	1227	c.1100C>A	c.(1099-1101)aCg>aAg	p.T367K	LETM2_ENST00000523983.2_Missense_Mutation_p.T320K|LETM2_ENST00000524874.1_Missense_Mutation_p.T319K|LETM2_ENST00000527710.1_Missense_Mutation_p.T153K|RP11-350N15.3_ENST00000533301.1_RNA|LETM2_ENST00000297720.5_Missense_Mutation_p.T272K|LETM2_ENST00000528827.1_3'UTR	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	367	LETM1.					integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CAACAGCTCACGGAGGCAAGT	0.542																																						ENST00000379957.4																			0				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(1099-1101)aCg>aAg		leucine zipper-EF-hand containing transmembrane protein 2							86	74	78					8																	38260158		2203	4300	6503	SO:0001583	missense	137994					integral to membrane|mitochondrial inner membrane		g.chr8:38260158C>A	AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"EF-hand domain containing"	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.1100C>A	8.37:g.38260158C>A	ENSP00000369291:p.Thr367Lys		Somatic				LETM2_ENST00000524874.1_Missense_Mutation_p.T319K|LETM2_ENST00000527710.1_Missense_Mutation_p.T153K|LETM2_ENST00000297720.5_Missense_Mutation_p.T272K|LETM2_ENST00000523983.2_Missense_Mutation_p.T320K|LETM2_ENST00000528827.1_3'UTR	p.T367K	NM_001199659.1	NP_001186588.1	WXS	Illumina GAIIx	Phase_I	Q2VYF4	LETM2_HUMAN	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)		7	1227	+	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	367			LETM1.		A6NMG3|Q8NCR2|Q96LL1	Missense_Mutation	SNP	ENST00000379957.4	37	c.1100C>A		.	.	.	.	.	.	.	.	.	.	C	6.088	0.384530	0.11524	.	.	ENSG00000165046	ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000527710	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.63	4.74	0.60224	LETM1-like (1);	0.359832	0.31392	N	0.007737	T	0.18964	0.0455	N	0.11364	0.135	0.35276	D	0.78093	B;B;P	0.37158	0.002;0.012;0.585	B;B;B	0.35859	0.007;0.022;0.212	T	0.27434	-1.0074	10	0.02654	T	1	-5.9475	9.1381	0.36886	0.2404:0.4888:0.2709:0.0	.	164;367;319	B7Z7T4;Q2VYF4;E9PMA4	.;LETM2_HUMAN;.	K	272;319;367;320;153	ENSP00000297720:T272K;ENSP00000431211:T319K;ENSP00000369291:T367K;ENSP00000428765:T320K;ENSP00000434867:T153K	ENSP00000297720:T272K	T	+	2	0	LETM2	38379315	0.225000	0.23685	1.000000	0.80357	0.907000	0.53573	0.355000	0.20163	1.341000	0.45600	0.655000	0.94253	ACG		0.542	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		22	51	1	0	7.3207e-31	1	9.25336e-31	22	51					A	38260158	C	A	38260158	3	1	10	1	0	0	0	0	1	0	0	0	8744	536	19	5	829	5	LETM2	8	38260158	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	274190	38260158	108103864	61	669										
RP1	6101	broad.mit.edu	37	chr8	55533846	55533846	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cggcgagtcctacctatgttCccacggcaggaaggtgcagc	13	13	0	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:55533846C>A	ENST00000220676.1	+	2	468	c.320C>A	c.(319-321)tCc>tAc	p.S107Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	107	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)			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)			TACCTATGTTCCCACGGCAGG	0.677																																					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.(319-321)tCc>tAc		retinitis pigmentosa 1 (autosomal dominant)							53	53	53					8																	55533846		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.chr8:55533846C>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.320C>A	8.37:g.55533846C>A	ENSP00000220676:p.Ser107Tyr		Somatic					p.S107Y	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	468	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	107			Doublecortin 1.			Missense_Mutation	SNP	ENST00000220676.1	37	c.320C>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456466	0.63401	.	.	ENSG00000104237	ENST00000220676	D	0.93189	-3.18	5.08	5.08	0.68730	Doublecortin domain (5);	0.231260	0.30940	N	0.008564	D	0.97371	0.9140	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98270	1.0503	10	0.87932	D	0	-7.164	18.4723	0.90779	0.0:1.0:0.0:0.0	.	107	P56715	RP1_HUMAN	Y	107	ENSP00000220676:S107Y	ENSP00000220676:S107Y	S	+	2	0	RP1	55696399	1.000000	0.71417	0.798000	0.32154	0.033000	0.12548	7.651000	0.83577	2.367000	0.80283	0.585000	0.79938	TCC		0.677	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		9	98	1	0	0.00621372	1	0.00637511	9	98					A	55533846	C	A	55533846	3	1	10	1	0	0	0	0	1	0	0	0	13547	855	30	2	322	2	RP1	8	55533846	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	17273688	55533846	90830176	62	670										
CSMD3	114788	broad.mit.edu	37	chr8	113318340	113318340	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gatatccatcattacaaaaaTaggtaactcgcgttcctacc	5	11	1	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:113318340T>C	ENST00000297405.5	-	51	8211	c.7967A>G	c.(7966-7968)tAt>tGt	p.Y2656C	CSMD3_ENST00000455883.2_Missense_Mutation_p.Y2552C|CSMD3_ENST00000343508.3_Missense_Mutation_p.Y2616C|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y2586C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2656	Sushi 15. {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						ATTACAAAAATAGGTAACTCG	0.403										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.(7966-7968)tAt>tGt		CUB and Sushi multiple domains 3							176	158	164					8																	113318340		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113318340T>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.7967A>G	8.37:g.113318340T>C	ENSP00000297405:p.Tyr2656Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000343508.3_Missense_Mutation_p.Y2616C|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y2586C|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y2552C	p.Y2656C	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			51	8211	-			2656			Sushi 15.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7967A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	19.29	3.799244	0.70567	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	5.53	5.53	0.82687	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000006	D	0.89487	0.6729	H	0.96889	3.9	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.92990	0.6414	10	0.87932	D	0	.	15.6452	0.77042	0.0:0.0:0.0:1.0	.	2552;2656;2616	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	2616;2656;1926;2552;2586	ENSP00000345799:Y2616C;ENSP00000297405:Y2656C;ENSP00000341558:Y1926C;ENSP00000412263:Y2552C;ENSP00000343124:Y2586C	ENSP00000297405:Y2656C	Y	-	2	0	CSMD3	113387516	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	8.013000	0.88655	2.094000	0.63399	0.455000	0.32223	TAT		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		19	35	0	0	0	1	0	19	35					C	113318340	T	C	113318340	3	2	10	1	0	0	0	0	1	0	0	0	3948	1406	49	4	3240	4	CSMD3	8	113318340	Missense_Mutation	SNP	T	TCGA-N5-A4RT-01A-11D-A28R-08	57784494	113318340	33045682	63	671										
ENPP2	5168	broad.mit.edu	37	chr8	120599309	120599309	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gattggcaataatggctttgGggtcatctgttcaaagagag	13	5	3	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:120599309G>C	ENST00000075322.6	-	14	1272	c.1214C>G	c.(1213-1215)cCc>cGc	p.P405R	ENPP2_ENST00000522167.1_Missense_Mutation_p.P44R|ENPP2_ENST00000522826.1_Missense_Mutation_p.P405R|ENPP2_ENST00000427067.2_Missense_Mutation_p.P401R|ENPP2_ENST00000259486.6_Missense_Mutation_p.P457R	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	405					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)			AATGGCTTTGGGGTCATCTGT	0.478																																					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.(1201-1203)cCc>cGc		ectonucleotide pyrophosphatase/phosphodiesterase 2							94	90	92					8																	120599309		2203	4300	6503	SO:0001583	missense	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120599309G>C	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.1214C>G	8.37:g.120599309G>C	ENSP00000075322:p.Pro405Arg		Somatic				ENPP2_ENST00000075322.6_Missense_Mutation_p.P405R|ENPP2_ENST00000522826.1_Missense_Mutation_p.P405R|ENPP2_ENST00000522167.1_Missense_Mutation_p.P44R|ENPP2_ENST00000259486.6_Missense_Mutation_p.P457R	p.P401R			WXS	Illumina GAIIx	Phase_I	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		14	1382	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		405					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.1202C>G	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514255	0.64522	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	5.56	5.56	0.83823	Alkaline-phosphatase-like, core domain (1);	0.061442	0.64402	D	0.000003	D	0.83041	0.5168	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.998;1.0	D;D;D;D	0.78314	0.988;0.984;0.979;0.991	T	0.82912	-0.0222	10	0.52906	T	0.07	.	19.4959	0.95072	0.0:0.0:1.0:0.0	.	405;405;457;44	E9PHP7;Q13822;Q13822-2;E5RIA2	.;ENPP2_HUMAN;.;.	R	457;401;44;405;405	ENSP00000259486:P457R;ENSP00000403315:P401R;ENSP00000429476:P44R;ENSP00000428291:P405R;ENSP00000075322:P405R	ENSP00000075322:P405R	P	-	2	0	ENPP2	120668490	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.738000	0.84966	2.618000	0.88619	0.491000	0.48974	CCC		0.478	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			5	13	0	0	0	1	0	5	13					C	120599309	G	C	120599309	3	2	10	1	0	0	0	0	1	0	0	0	5132	1232	43	5	1504	5	ENPP2	8	120599309	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	7280969	120599309	25764713	64	672										
FOXD4	2298	broad.mit.edu	37	chr9	117617	117617	+	Missense_Mutation	SNP	T	T	C													0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ccttgcctgggcggcccggcTcgcgggggatcttgacgaag							TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:117617T>C	ENST00000382500.2	-	1	800	c.503A>G	c.(502-504)gAg>gGg	p.E168G		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	168					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCGGCCCGGCTCGCGGGGGAT	0.637																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(502-504)gAg>gGg		forkhead box D4							118	162	147					9																	117617		2197	4295	6492	SO:0001583	missense	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117617T>C	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.503A>G	9.37:g.117617T>C	ENSP00000371940:p.Glu168Gly		Somatic					p.E168G	NM_207305.4	NP_997188.2	WXS	Illumina GAIIx	Phase_I	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	800	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	168					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	c.503A>G	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	16.93	3.258161	0.59321	.	.	ENSG00000170122	ENST00000382500	D	0.95724	-3.79	2.24	2.24	0.28232	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.37577	U	0.002028	D	0.95046	0.8396	L	0.52759	1.655	0.52099	D	0.99994	P	0.37207	0.587	P	0.51516	0.672	D	0.94101	0.7362	10	0.87932	D	0	.	9.2262	0.37407	0.0:0.0:0.0:1.0	.	168	Q12950	FOXD4_HUMAN	G	168	ENSP00000371940:E168G	ENSP00000371940:E168G	E	-	2	0	FOXD4	107617	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.754000	0.68743	1.032000	0.39892	0.242000	0.17961	GAG		0.637	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		7	405	0	0	0	1	0	7	405					C	117617	T	C	117617	3	2	10	1	0	0	0	0	1	0	0	0	6007	1551	54	4	820	4	FOXD4	9	117617	Missense_Mutation	SNP	T	TCGA-N5-A4RT-01A-11D-A28R-08		117617	141095814	65	673	4	2								
FOXD4	2298	broad.mit.edu	37	chr9	117618	117618	+	Missense_Mutation	SNP	C	C	T													0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cttgcctgggcggcccggctCgcgggggatcttgacgaagc							TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:117618C>T	ENST00000382500.2	-	1	799	c.502G>A	c.(502-504)Gag>Aag	p.E168K		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	168					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CGGCCCGGCTCGCGGGGGATC	0.632																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(502-504)Gag>Aag		forkhead box D4							117	161	146					9																	117618		2196	4295	6491	SO:0001583	missense	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117618C>T	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"Forkhead boxes"	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.502G>A	9.37:g.117618C>T	ENSP00000371940:p.Glu168Lys		Somatic					p.E168K	NM_207305.4	NP_997188.2	WXS	Illumina GAIIx	Phase_I	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	799	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	168					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	ENST00000382500.2	37	c.502G>A	CCDS34975.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.092967	0.76756	.	.	ENSG00000170122	ENST00000382500	D	0.95412	-3.7	2.24	2.24	0.28232	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.37577	U	0.002028	D	0.96549	0.8874	M	0.67397	2.05	0.52501	D	0.99995	D	0.76494	0.999	D	0.70716	0.97	D	0.96209	0.9151	10	0.72032	D	0.01	.	11.6185	0.51104	0.0:1.0:0.0:0.0	.	168	Q12950	FOXD4_HUMAN	K	168	ENSP00000371940:E168K	ENSP00000371940:E168K	E	-	1	0	FOXD4	107618	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.399000	0.59703	1.253000	0.44018	0.291000	0.19559	GAG		0.632	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		7	405	0	0	0	1	0	7	405					T	117618	C	T	117618	3	4	10	1	0	0	0	0	1	0	0	0	6007	893	31	1	821	1	FOXD4	9	117618	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	1	117618	141095813	66	674	4	2								
OR2S2	56656	broad.mit.edu	37	chr9	35957351	35957351	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ggtcccgtagaagacgatcaCcacggtgaggtgggcagagc	16	10	1	4			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:35957351C>G	ENST00000341959.2	-	1	800	c.745G>C	c.(745-747)Gtg>Ctg	p.V249L		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	249					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)			AAGACGATCACCACGGTGAGG	0.507																																					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.(745-747)Gtg>Ctg		olfactory receptor, family 2, subfamily S, member 2							101	103	103					9																	35957351		2203	4300	6503	SO:0001583	missense	56656				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35957351C>G	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.745G>C	9.37:g.35957351C>G	ENSP00000344040:p.Val249Leu		Somatic					p.V249L	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	800	-			249					Q2M3L0|Q6IF19|Q96R42	Missense_Mutation	SNP	ENST00000341959.2	37	c.745G>C	CCDS6596.2	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449070	0.26074	.	.	ENSG00000122718	ENST00000341959	T	0.00355	7.91	4.17	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.146210	0.31134	N	0.008194	T	0.00875	0.0029	M	0.90650	3.135	0.09310	N	1	D	0.64830	0.994	D	0.70227	0.968	T	0.17776	-1.0358	10	0.87932	D	0	.	10.3694	0.44044	0.0:0.9023:0.0:0.0976	.	249	Q9NQN1	OR2S1_HUMAN	L	249	ENSP00000344040:V249L	ENSP00000344040:V249L	V	-	1	0	OR2S2	35947351	0.067000	0.21026	0.169000	0.22859	0.204000	0.24138	0.524000	0.22940	1.350000	0.45770	0.655000	0.94253	GTG		0.507	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897		61	47	0	0	0	1	0	61	47					G	35957351	C	G	35957351	3	3	10	1	0	0	0	0	1	0	0	0	11024	507	18	5	218	5	OR2S2	9	35957351	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	35839733	35957351	105256080	67	675										
COL15A1	1306	broad.mit.edu	37	chr9	101832029	101832029	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	taactactgtgaagcatggcGaaccgcggacacagcggtca	12	11	1	1	rs556845594		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:101832029G>T	ENST00000375001.3	+	42	4451	c.4028G>T	c.(4027-4029)cGa>cTa	p.R1343L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1343	Nonhelical region 10 (NC10).				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)				GAAGCATGGCGAACCGCGGAC	0.527																																						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.(4027-4029)cGa>cTa		collagen, type XV, alpha 1							104	104	104					9																	101832029		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101832029G>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.4028G>T	9.37:g.101832029G>T	ENSP00000364140:p.Arg1343Leu		Somatic					p.R1343L	NM_001855.3	NP_001846.3	WXS	Illumina GAIIx	Phase_I	P39059	COFA1_HUMAN			42	4451	+		Acute lymphoblastic leukemia(62;0.0562)	1343			Nonhelical region 10 (NC10).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.4028G>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812648	0.70912	.	.	ENSG00000204291	ENST00000375001	T	0.55760	0.5	6.17	6.17	0.99709	Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);	0.060673	0.64402	D	0.000006	T	0.76183	0.3952	M	0.80616	2.505	0.58432	D	0.99999	D	0.89917	1.0	D	0.85130	0.997	T	0.77064	-0.2726	10	0.87932	D	0	-13.2277	19.6509	0.95805	0.0:0.0:1.0:0.0	.	1343	P39059	COFA1_HUMAN	L	1343	ENSP00000364140:R1343L	ENSP00000364140:R1343L	R	+	2	0	COL15A1	100871850	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	6.647000	0.74354	2.941000	0.99782	0.655000	0.94253	CGA		0.527	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		13	102	1	0	0.00010058	1	0.000108106	13	102					T	101832029	G	T	101832029	3	4	10	1	0	0	0	0	1	0	0	0	3674	1058	37	2	4194	2	COL15A1	9	101832029	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	65874678	101832029	39381402	68	676										
LPPR1	54886	broad.mit.edu	37	chr9	104086318	104086318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gctccacagaatcactctgcGtccatgaccgaagttacctg	8	14	2	2	rs371737348		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:104086318G>A	ENST00000374874.3	+	8	1396	c.957G>A	c.(955-957)gcG>gcA	p.A319A	SNORA31_ENST00000517232.1_RNA|LPPR1_ENST00000395056.2_Silent_p.A319A	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		319					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										ATCACTCTGCGTCCATGACCG	0.413																																						ENST00000374874.3																			0											c.(955-957)gcG>gcA				G	,	1,4405	2.1+/-5.4	0,1,2202	163	126	138		957,957	3.3	1	9		138	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LPPR1	NM_017753.2,NM_207299.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	319/326,319/326	104086318	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane	catalytic activity	g.chr9:104086318G>A																												ENST00000374874.3:c.957G>A	9.37:g.104086318G>A			Somatic				LPPR1_ENST00000395056.2_Silent_p.A319A	p.A319A	NM_207299.1	NP_997182.1	WXS	Illumina GAIIx	Phase_I	Q8TBJ4	LPPR1_HUMAN			8	1396	+			319					Q5VX23|Q9NXE2	Silent	SNP	ENST00000374874.3	37	c.957G>A	CCDS6751.1																																																																																				0.413	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			6	12	0	0	0	1	0	6	12					A	104086318	G	A	104086318	2	1	10	1	0	0	0	0	0	0	0	1	8933	1132	40	1		1	LPPR1	9	104086318	Silent	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	2254289	104086318	37127113	69	677										
POMT1	10585	broad.mit.edu	37	chr9	134379641	134379641	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	aagcgccctgtagtggtgacGgctgacatcaacttgagcct	12	11	1	3	rs201262353		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:134379641G>C	ENST00000372228.3	+	2	215	c.36G>C	c.(34-36)acG>acC	p.T12T	POMT1_ENST00000423007.1_Silent_p.T12T|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000419118.2_Intron|POMT1_ENST00000341012.7_Intron|POMT1_ENST00000404875.2_Intron|POMT1_ENST00000402686.3_Silent_p.T12T|POMT1_ENST00000354713.4_Silent_p.T12T	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	12					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)		TAGTGGTGACGGCTGACATCA	0.577											OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000423007.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31						c.(34-36)acG>acC		protein-O-mannosyltransferase 1							180	150	160					9																	134379641		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.chr9:134379641G>C	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.36G>C	9.37:g.134379641G>C			Somatic	OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	POMT1_ENST00000419118.2_Intron|POMT1_ENST00000341012.7_Intron|POMT1_ENST00000402686.3_Silent_p.T12T|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000354713.4_Silent_p.T12T|POMT1_ENST00000372228.3_Silent_p.T12T|POMT1_ENST00000404875.2_Intron	p.T12T	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)	2	478	+		Myeloproliferative disorder(178;0.204)	12					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	c.36G>C	CCDS6943.1																																																																																				0.577	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		44	5	0	0	0	1	0	44	5					C	134379641	G	C	134379641	2	2	10	1	0	0	0	0	0	0	0	1	12254	1103	39	5		5	POMT1	9	134379641	Silent	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	30293323	134379641	6833790	70	678										
CACNA1B	774	broad.mit.edu	37	chr9	140772533	140772533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	tcctctacaagcaatcgatcGcgcagcgcgcgcggaccatg	11	15	1	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:140772533G>A	ENST00000371372.1	+	1	293	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	CACNA1B_ENST00000371363.1_Missense_Mutation_p.A50T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A50T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A50T|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A50T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	50					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)	GCAATCGATCGCGCAGCGCGC	0.731																																						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.(148-150)Gcg>Acg		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)																																			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.chr9:140772533G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.148G>A	9.37:g.140772533G>A	ENSP00000360423:p.Ala50Thr		Somatic				RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A50T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A50T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A50T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A50T	p.A50T	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)	1	293	+	all_cancers(76;0.166)		50					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.148G>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	33	5.227395	0.95173	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.97870	-4.54;-4.58;-4.49;-4.52;-4.54	3.46	3.46	0.39613	.	0.000000	0.64402	U	0.000003	D	0.98270	0.9427	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.97880	1.0291	10	0.27082	T	0.32	.	13.975	0.64268	0.0:0.0:1.0:0.0	.	50	B1AQK6	.	T	50	ENSP00000360423:A50T;ENSP00000277551:A50T;ENSP00000360414:A50T;ENSP00000360408:A50T;ENSP00000360406:A50T	ENSP00000277551:A50T	A	+	1	0	CACNA1B	139892354	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.589000	0.74080	1.497000	0.48584	0.298000	0.19748	GCG		0.731	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		6	10	0	0	0	1	0	6	10					A	140772533	G	A	140772533	3	1	10	1	0	0	0	0	1	0	0	0	2541	1087	38	1	150	1	CACNA1B	9	140772533	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	6392892	140772533	440898	71	679										
CUBN	8029	broad.mit.edu	37	chr10	16882348	16882348	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cctgcggtgagtcctgaagcTgtaagtaattctgcgtgcag	13	9	1	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr10:16882348T>G	ENST00000377833.4	-	62	10078	c.10013A>C	c.(10012-10014)cAg>cCg	p.Q3338P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3338	CUB 25. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCCTGAAGCTGTAAGTAATT	0.448																																						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.(10012-10014)cAg>cCg		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						111	95	100					10																	16882348		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.chr10:16882348T>G	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.10013A>C	10.37:g.16882348T>G	ENSP00000367064:p.Gln3338Pro		Somatic					p.Q3338P	NM_001081.3	NP_001072.2	WXS	Illumina GAIIx	Phase_I	O60494	CUBN_HUMAN			62	10078	-			3338			CUB 25.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10013A>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.152763	0.38021	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.18657	2.2	4.74	3.56	0.40772	CUB (5);	0.495836	0.14869	N	0.293644	T	0.22781	0.0550	L	0.27053	0.805	0.80722	D	1	P	0.43633	0.813	P	0.49332	0.607	T	0.01452	-1.1351	10	0.59425	D	0.04	.	10.4344	0.44426	0.1463:0.0:0.0:0.8537	.	3338	O60494	CUBN_HUMAN	P	3338;179	ENSP00000367064:Q3338P	ENSP00000367064:Q3338P	Q	-	2	0	CUBN	16922354	1.000000	0.71417	0.992000	0.48379	0.342000	0.28953	3.705000	0.54823	0.622000	0.30249	0.459000	0.35465	CAG		0.448	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		21	38	0	0	0	1	0	21	38					G	16882348	T	G	16882348	3	3	10	1	0	0	0	0	1	0	0	0	4053	1580	55	4	882	4	CUBN	10	16882348	Missense_Mutation	SNP	T	TCGA-N5-A4RT-01A-11D-A28R-08		16882348	118652399	72	680										
MGEA5	10724	broad.mit.edu	37	chr10	103547200	103547200	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gttacttttttgtgaatgtcCatctttatcagagaagggaa	9	5	2	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr10:103547200C>G	ENST00000361464.3	-	15	2930	c.2535G>C	c.(2533-2535)atG>atC	p.M845I	MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000439817.1_Missense_Mutation_p.M792I|MGEA5_ENST00000357797.5_Missense_Mutation_p.M778I	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	845					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TGTGAATGTCCATCTTTATCA	0.393																																						ENST00000361464.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(2533-2535)atG>atC		meningioma expressed antigen 5 (hyaluronidase)							151	151	151					10																	103547200		2203	4300	6503	SO:0001583	missense	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103547200C>G	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"nuclear cytoplasmic O-GlcNAcase and acetyltransferase"	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.2535G>C	10.37:g.103547200C>G	ENSP00000354850:p.Met845Ile		Somatic				MGEA5_ENST00000357797.5_Missense_Mutation_p.M778I|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000439817.1_Missense_Mutation_p.M792I	p.M845I	NM_012215.3	NP_036347.1	WXS	Illumina GAIIx	Phase_I	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	15	2930	-		Colorectal(252;0.207)	845			Histone acetyltransferase activity (By similarity).		B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	c.2535G>C	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	C	8.982	0.975592	0.18736	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797	T;T;T	0.39787	1.06;1.06;1.06	5.74	5.74	0.90152	Acyl-CoA N-acyltransferase (2);	0.136912	0.64402	D	0.000001	T	0.24890	0.0604	N	0.19112	0.55	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	0.11518	-1.0584	10	0.10377	T	0.69	-10.4793	10.2928	0.43605	0.1825:0.6968:0.1207:0.0	.	792;778;845	E9PGF9;O60502-2;O60502	.;.;NCOAT_HUMAN	I	792;845;778	ENSP00000409973:M792I;ENSP00000354850:M845I;ENSP00000350445:M778I	ENSP00000350445:M778I	M	-	3	0	MGEA5	103537190	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.695000	0.25527	2.890000	0.99128	0.650000	0.86243	ATG		0.393	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		45	4	0	0	0	1	0	45	4					G	103547200	C	G	103547200	3	3	10	1	0	0	0	0	1	0	0	0	9564	594	21	5	223	5	MGEA5	10	103547200	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	86664852	103547200	31987547	73	681										
CDHR5	53841	broad.mit.edu	37	chr11	621243	621243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	tgggttccacattctcccccGgagtgtcctgcaacagacgg	11	14	1	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:621243G>A	ENST00000358353.3	-	8	948	c.626C>T	c.(625-627)cCg>cTg	p.P209L	CDHR5_ENST00000397542.2_Missense_Mutation_p.P209L|CDHR5_ENST00000349570.7_Missense_Mutation_p.P209L|CDHR5_ENST00000529337.1_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	209	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ATTCTCCCCCGGAGTGTCCTG	0.682																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(625-627)cCg>cTg		cadherin-related family member 5							50	52	51					11																	621243		2203	4299	6502	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:621243G>A	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.626C>T	11.37:g.621243G>A	ENSP00000351118:p.Pro209Leu		Somatic				CDHR5_ENST00000349570.7_Missense_Mutation_p.P209L|CDHR5_ENST00000397542.2_Missense_Mutation_p.P209L	p.P209L			WXS	Illumina GAIIx	Phase_I	Q9HBB8	CDHR5_HUMAN			8	948	-			209			Cadherin 2.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.626C>T	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452852	0.26074	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000326366;ENST00000349570	T;T;T	0.37235	1.21;1.21;1.21	3.87	-5.22	0.02806	Cadherin (3);Cadherin-like (1);	3.002300	0.01541	N	0.019226	T	0.19644	0.0472	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B	0.31125	0.134;0.309;0.071;0.071;0.181	B;B;B;B;B	0.19946	0.015;0.027;0.008;0.008;0.015	T	0.07635	-1.0762	10	0.26408	T	0.33	0.1364	1.333	0.02138	0.1255:0.2295:0.3022:0.3428	.	209;209;202;209;209	Q58EZ6;Q9HBB8-4;B4DV98;Q9HBB8-2;Q9HBB8	.;.;.;.;CDHR5_HUMAN	L	209	ENSP00000380676:P209L;ENSP00000351118:P209L;ENSP00000345726:P209L	ENSP00000326527:P209L	P	-	2	0	CDHR5	611243	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.307000	0.01132	-0.478000	0.06823	0.561000	0.74099	CCG		0.682	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		20	43	0	0	0	1	0	20	43					A	621243	G	A	621243	3	1	10	1	0	0	0	0	1	0	0	0	3124	1116	39	1	1947	1	CDHR5	11	621243	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08		621243	134385273	74	682										
OR56B4	196335	broad.mit.edu	37	chr11	6129437	6129437	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cagtacccctccatagtcacTaaagcttttgtcttcaaagc	5	13	3	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:6129437T>G	ENST00000316529.3	+	1	524	c.429T>G	c.(427-429)acT>acG	p.T143T	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	143						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(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATAGTCACTAAAGCTTTTG	0.498																																						ENST00000316529.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21						c.(427-429)acT>acG		olfactory receptor, family 56, subfamily B, member 4							124	110	115					11																	6129437		2201	4296	6497	SO:0001819	synonymous_variant	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129437T>G	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"GPCR / Class A : Olfactory receptors"	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.429T>G	11.37:g.6129437T>G			Somatic				RP11-290F24.3_ENST00000529961.1_RNA	p.T143T	NM_001005181.1	NP_001005181.1	WXS	Illumina GAIIx	Phase_I	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	524	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	143					Q6IFD7	Silent	SNP	ENST00000316529.3	37	c.429T>G	CCDS31406.1																																																																																				0.498	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		26	58	0	0	0	1	0	26	58					G	6129437	T	G	6129437	2	3	10	1	0	0	0	0	0	0	0	1	11147	1509	53	4		4	OR56B4	11	6129437	Silent	SNP	T	TCGA-N5-A4RT-01A-11D-A28R-08	5508194	6129437	128877079	75	683										
MICALCL	84953	broad.mit.edu	37	chr11	12315221	12315221	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cccagggaaattcccctgtaTctgcctcatcacccaaagcc	6	17	3	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:12315221T>G	ENST00000256186.2	+	3	534	c.243T>G	c.(241-243)taT>taG	p.Y81*		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	81	Interaction with MAPK1. {ECO:0000250}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TTCCCCTGTATCTGCCTCATC	0.587																																						ENST00000256186.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(241-243)taT>taG		MICAL C-terminal like							137	144	142					11																	12315221		1971	4150	6121	SO:0001587	stop_gained	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12315221T>G	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.243T>G	11.37:g.12315221T>G	ENSP00000256186:p.Tyr81*		Somatic					p.Y81*	NM_032867.2	NP_116256.2	WXS	Illumina GAIIx	Phase_I	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	534	+			81			Interaction with MAPK1 (By similarity).		Q7RTP7|Q96JU6	Nonsense_Mutation	SNP	ENST00000256186.2	37	c.243T>G	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	T	37	6.176431	0.97348	.	.	ENSG00000133808	ENST00000256186	.	.	.	5.71	-7.0	0.01599	.	0.365741	0.20035	N	0.100638	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.719	0.91686	0.0:0.7806:0.0:0.2194	.	.	.	.	X	81	.	ENSP00000256186:Y81X	Y	+	3	2	MICALCL	12271797	0.000000	0.05858	0.001000	0.08648	0.371000	0.29859	-1.455000	0.02379	-1.254000	0.02485	-0.264000	0.10439	TAT		0.587	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		6	189	0	0	0	1	0	6	189					G	12315221	T	G	12315221	4	3	10	1	0	0	0	0	0	1	0	0	9581	1442	50	4	249	4	MICALCL	11	12315221	Nonsense_Mutation	SNP	T	TCGA-N5-A4RT-01A-11D-A28R-08	6185784	12315221	122691295	76	684										
MYBPC3	4607	broad.mit.edu	37	chr11	47360082	47360082	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cggcctcaccgatgaccttgActgtgaggttgacctggtcc	12	13	1	4			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:47360082A>T	ENST00000545968.1	-	23	2351	c.2297T>A	c.(2296-2298)gTc>gAc	p.V766D	MYBPC3_ENST00000399249.2_Missense_Mutation_p.V766D|MYBPC3_ENST00000256993.4_Missense_Mutation_p.V765D	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	766	Ig-like C2-type 5.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GATGACCTTGACTGTGAGGTT	0.617																																						ENST00000545968.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(2296-2298)gTc>gAc		myosin binding protein C, cardiac							83	86	85					11																	47360082		2096	4199	6295	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.chr11:47360082A>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.2297T>A	11.37:g.47360082A>T	ENSP00000442795:p.Val766Asp		Somatic				MYBPC3_ENST00000256993.4_Missense_Mutation_p.V765D|MYBPC3_ENST00000399249.2_Missense_Mutation_p.V766D	p.V766D	NM_000256.3	NP_000247.2	WXS	Illumina GAIIx	Phase_I	Q14896	MYPC3_HUMAN		Lung(87;0.176)	23	2351	-			765			Ig-like C2-type 5.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.2297T>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.626995	0.87560	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.78126	-1.15;-1.15;-1.15	5.4	5.4	0.78164	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90242	0.6949	M	0.91038	3.17	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.92489	0.5999	9	0.87932	D	0	.	15.4578	0.75330	1.0:0.0:0.0:0.0	.	765	Q14896	MYPC3_HUMAN	D	766;766;765	ENSP00000442795:V766D;ENSP00000382193:V766D;ENSP00000256993:V765D	ENSP00000256993:V765D	V	-	2	0	MYBPC3	47316658	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.939000	0.92951	2.053000	0.61076	0.460000	0.39030	GTC		0.617	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			9	64	0	0	0	1	0	9	64					T	47360082	A	T	47360082	3	4	10	1	0	0	0	0	1	0	0	0	10022	275	10	4	1575	4	MYBPC3	11	47360082	Missense_Mutation	SNP	A	TCGA-N5-A4RT-01A-11D-A28R-08	35044861	47360082	87646434	77	685										
MAP4K2	5871	broad.mit.edu	37	chr11	64563758	64563758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ccctgacctggggatgatgcGctgggtgaggcggttggtgg	20	8	0	3	rs148240107		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:64563758G>A	ENST00000294066.2	-	24	1829	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C	MAP4K2_ENST00000377350.3_Missense_Mutation_p.R572C	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	580	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GGGATGATGCGCTGGGTGAGG	0.647																																						ENST00000294066.2																			0				cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						c.(1738-1740)Cgc>Tgc		mitogen-activated protein kinase kinase kinase kinase 2		G	CYS/ARG	0,4402		0,0,2201	77	76	76		1738	4.3	1	11	dbSNP_134	76	2,8592	2.2+/-6.3	0,2,4295	yes	missense	MAP4K2	NM_004579.3	180	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	580/821	64563758	2,12994	2201	4297	6498	SO:0001583	missense	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64563758G>A	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1738C>T	11.37:g.64563758G>A	ENSP00000294066:p.Arg580Cys		Somatic				MAP4K2_ENST00000377350.3_Missense_Mutation_p.R572C	p.R580C	NM_004579.3	NP_004570.2	WXS	Illumina GAIIx	Phase_I	Q12851	M4K2_HUMAN			24	1829	-			580			CNH.		Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	37	c.1738C>T	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821360	0.71028	0.0	2.33E-4	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.72505	-0.66;-0.66	4.34	4.34	0.51931	Citron-like (3);	0.277264	0.31847	N	0.006968	T	0.80204	0.4580	L	0.58510	1.815	0.49483	D	0.99979	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.81988	-0.0680	10	0.87932	D	0	.	12.2627	0.54660	0.0:0.0:1.0:0.0	.	572;580	Q86VU3;Q12851	.;M4K2_HUMAN	C	580;572	ENSP00000294066:R580C;ENSP00000366567:R572C	ENSP00000294066:R580C	R	-	1	0	MAP4K2	64320334	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.673000	0.46858	2.261000	0.74972	0.456000	0.33151	CGC		0.647	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579		19	75	0	0	0	1	0	19	75					A	64563758	G	A	64563758	3	1	10	1	0	0	0	0	1	0	0	0	9269	1087	38	1	760	1	MAP4K2	11	64563758	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	17203676	64563758	70442758	78	686										
SAPS3	55291	broad.mit.edu	37	chr11	68305235	68305235	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	tggatgaggaagatgttttaCaggaatgtaaagctcagaac	12	4	1	3			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:68305235C>G	ENST00000393800.2	+	3	357	c.103C>G	c.(103-105)Cag>Gag	p.Q35E	PPP6R3_ENST00000265636.5_Missense_Mutation_p.Q35E|PPP6R3_ENST00000265637.4_Missense_Mutation_p.Q35E|PPP6R3_ENST00000393799.2_Missense_Mutation_p.Q35E|PPP6R3_ENST00000393801.3_Missense_Mutation_p.Q35E|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Missense_Mutation_p.Q35E|PPP6R3_ENST00000527403.2_Missense_Mutation_p.Q35E|PPP6R3_ENST00000524845.1_Missense_Mutation_p.Q35E|PPP6R3_ENST00000524904.1_Missense_Mutation_p.Q35E	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	35					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						AGATGTTTTACAGGAATGTAA	0.363																																						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.(103-105)Cag>Gag		protein phosphatase 6, regulatory subunit 3							98	92	94					11																	68305235		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68305235C>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.103C>G	11.37:g.68305235C>G	ENSP00000377389:p.Gln35Glu		Somatic				PPP6R3_ENST00000524904.1_Missense_Mutation_p.Q35E|PPP6R3_ENST00000524845.1_Missense_Mutation_p.Q35E|PPP6R3_ENST00000529710.1_Missense_Mutation_p.Q35E|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000393800.2_Missense_Mutation_p.Q35E|PPP6R3_ENST00000393801.3_Missense_Mutation_p.Q35E|PPP6R3_ENST00000527403.2_Missense_Mutation_p.Q35E|PPP6R3_ENST00000265637.4_Missense_Mutation_p.Q35E|PPP6R3_ENST00000265636.5_Missense_Mutation_p.Q35E	p.Q35E			WXS	Illumina GAIIx	Phase_I	Q5H9R7	PP6R3_HUMAN			3	370	+			35					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.103C>G	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804427	0.90623	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000533127;ENST00000529344;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	T;T;T;T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.72645	0.3486	M	0.91972	3.26	0.80722	D	1	D;D;D;D;D;D	0.89917	0.969;0.969;1.0;0.989;0.993;1.0	D;D;D;D;D;D	0.91635	0.943;0.966;0.999;0.925;0.99;0.999	T	0.79598	-0.1737	9	.	.	.	.	18.2664	0.90053	0.0:1.0:0.0:0.0	.	35;35;35;35;35;35	Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;PP6R3_HUMAN;.;.	E	35	ENSP00000377388:Q35E;ENSP00000377389:Q35E;ENSP00000433768:Q35E;ENSP00000433551:Q35E;ENSP00000431415:Q35E;ENSP00000265637:Q35E;ENSP00000433058:Q35E;ENSP00000377390:Q35E;ENSP00000265636:Q35E;ENSP00000437329:Q35E;ENSP00000433565:Q35E;ENSP00000432837:Q35E	.	Q	+	1	0	PPP6R3	68061811	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.559000	0.82265	2.552000	0.86080	0.563000	0.77884	CAG		0.363	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		13	31	0	0	0	1	0	13	31					G	68305235	C	G	68305235	3	3	10	1	0	0	0	0	1	0	0	0	13853	479	17	5	105	5	SAPS3	11	68305235	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	3741477	68305235	66701281	79	687										
MCAM	4162	broad.mit.edu	37	chr11	119182524	119182524	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	agggagggcctcaccaaaaaTggccacgttgaccagctgtg	13	11	1	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:119182524T>G	ENST00000264036.4	-	10	1293	c.1279A>C	c.(1279-1281)Att>Ctt	p.I427L	MCAM_ENST00000392814.1_Missense_Mutation_p.I376L	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	427					anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TCACCAAAAATGGCCACGTTG	0.602																																						ENST00000392814.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22						c.(1126-1128)Att>Ctt		melanoma cell adhesion molecule							61	66	65					11																	119182524		2199	4295	6494	SO:0001583	missense	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119182524T>G	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6934	protein-coding gene	gene with protein product	"Gicerin"	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1279A>C	11.37:g.119182524T>G	ENSP00000264036:p.Ile427Leu		Somatic				MCAM_ENST00000264036.4_Missense_Mutation_p.I427L	p.I376L			WXS	Illumina GAIIx	Phase_I	P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	5	1855	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	427			Ig-like C2-type 2.		O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	37	c.1126A>C	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.711323	0.48517	.	.	ENSG00000076706	ENST00000264036;ENST00000392814	T;T	0.63096	0.62;-0.02	4.86	-3.13	0.05266	.	.	.	.	.	T	0.51007	0.1649	L	0.42245	1.32	0.23876	N	0.996596	B	0.19331	0.035	B	0.17433	0.018	T	0.43909	-0.9362	9	0.59425	D	0.04	-1.0639	11.1484	0.48444	0.0:0.6019:0.0:0.3981	.	427	P43121	MUC18_HUMAN	L	427;376	ENSP00000264036:I427L;ENSP00000376561:I376L	ENSP00000264036:I427L	I	-	1	0	MCAM	118687734	0.001000	0.12720	0.657000	0.29651	0.904000	0.53231	-0.659000	0.05323	-0.830000	0.04262	-0.372000	0.07161	ATT		0.602	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			70	5	0	0	0	1	0	70	5					G	119182524	T	G	119182524	3	3	10	1	0	0	0	0	1	0	0	0	9377	1464	51	4	689	4	MCAM	11	119182524	Missense_Mutation	SNP	T	TCGA-N5-A4RT-01A-11D-A28R-08	50877289	119182524	15823992	80	688										
ANO2	57101	broad.mit.edu	37	chr12	5941713	5941713	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	tgcaggtgcgagctcagcttCtgcagagccgcgctgaactt	13	12	2	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:5941713C>G	ENST00000356134.5	-	6	752	c.681G>C	c.(679-681)caG>caC	p.Q227H	ANO2_ENST00000327087.8_Missense_Mutation_p.Q226H|ANO2_ENST00000546188.1_Missense_Mutation_p.Q227H	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	231					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						AGCTCAGCTTCTGCAGAGCCG	0.522																																						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.(676-678)caG>caC		anoctamin 2							108	109	109					12																	5941713		2078	4220	6298	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5941713C>G	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.681G>C	12.37:g.5941713C>G	ENSP00000348453:p.Gln227His		Somatic				ANO2_ENST00000546188.1_Missense_Mutation_p.Q227H|ANO2_ENST00000356134.5_Missense_Mutation_p.Q227H	p.Q226H			WXS	Illumina GAIIx	Phase_I	Q9NQ90	ANO2_HUMAN			5	749	-			231					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.678G>C		.	.	.	.	.	.	.	.	.	.	C	12.02	1.813499	0.32053	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.66638	-0.22;-0.22;-0.22	5.72	3.78	0.43462	.	0.334694	0.35585	N	0.003105	T	0.59891	0.2227	L	0.54323	1.7	0.32413	N	0.550347	B	0.06786	0.001	B	0.08055	0.003	T	0.64651	-0.6357	10	0.37606	T	0.19	.	12.1059	0.53811	0.0:0.667:0.333:0.0	.	226	Q9NQ90-3	.	H	226;227;227;231	ENSP00000314048:Q226H;ENSP00000348453:Q227H;ENSP00000440981:Q227H	ENSP00000314048:Q226H	Q	-	3	2	ANO2	5811974	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	0.791000	0.26915	1.409000	0.46915	0.561000	0.74099	CAG		0.522	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		14	36	0	0	0	1	0	14	36					G	5941713	C	G	5941713	3	3	10	1	0	0	0	0	1	0	0	0	697	912	32	2	2406	2	ANO2	12	5941713	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08		5941713	127910182	81	689										
CHD4	1108	broad.mit.edu	37	chr12	6692406	6692406	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	attgtagttgacctgtttacGgattctttttcctttgccca	7	9	1	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:6692406G>A	ENST00000357008.2	-	26	4181	c.4018C>T	c.(4018-4020)Cgt>Tgt	p.R1340C	CHD4_ENST00000309577.6_Missense_Mutation_p.R1340C|CHD4_ENST00000544040.1_Missense_Mutation_p.R1333C|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Missense_Mutation_p.R1337C|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000540960.1_5'UTR	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1340					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						ACCTGTTTACGGATTCTTTTT	0.562																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(4018-4020)Cgt>Tgt		chromodomain helicase DNA binding protein 4							187	179	182					12																	6692406		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.chr12:6692406G>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.4018C>T	12.37:g.6692406G>A	ENSP00000349508:p.Arg1340Cys		Somatic				CHD4_ENST00000544484.1_Missense_Mutation_p.R1337C|CHD4_ENST00000544040.1_Missense_Mutation_p.R1333C|CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000357008.2_Missense_Mutation_p.R1340C	p.R1340C			WXS	Illumina GAIIx	Phase_I	Q14839	CHD4_HUMAN			26	4181	-			1340					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4018C>T	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087789	0.94100	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.94232	-3.37;-3.14;-3.38;-3.13	5.96	5.96	0.96718	Domain of unknown function DUF1087 (1);	0.000000	0.85682	D	0.000000	D	0.96898	0.8987	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	D	0.96740	0.9546	10	0.87932	D	0	-5.1013	20.422	0.99049	0.0:0.0:1.0:0.0	.	1340;1340;1333	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	C	1337;1333;1340;1340;1314	ENSP00000440392:R1337C;ENSP00000440542:R1333C;ENSP00000312419:R1340C;ENSP00000349508:R1340C	ENSP00000312419:R1340C	R	-	1	0	CHD4	6562667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.441000	0.97557	2.832000	0.97577	0.655000	0.94253	CGT		0.562	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		69	107	0	0	0	1	0	69	107					A	6692406	G	A	6692406	3	1	10	1	0	0	0	0	1	0	0	0	3329	1116	39	1	1780	1	CHD4	12	6692406	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	750693	6692406	127159489	82	690										
FAM186B	84070	broad.mit.edu	37	chr12	49999203	49999203	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ctgggcagcctcaatcctcaGgatgatggctttcactgatg	11	11	3	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:49999203G>A	ENST00000257894.2	-	1	219	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	FAM186B_ENST00000551047.1_Silent_p.L20L|FAM186B_ENST00000544141.1_5'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	20						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						TCAATCCTCAGGATGATGGCT	0.517																																						ENST00000257894.2																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(58-60)Ctg>Ttg		family with sequence similarity 186, member B							101	81	88					12																	49999203		2203	4300	6503	SO:0001819	synonymous_variant	84070					protein complex		g.chr12:49999203G>A	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 25"	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.58C>T	12.37:g.49999203G>A			Somatic				FAM186B_ENST00000551047.1_Silent_p.L20L|FAM186B_ENST00000544141.1_5'UTR	p.L20L	NM_032130.2	NP_115506.1	WXS	Illumina GAIIx	Phase_I	Q8IYM0	F186B_HUMAN			1	219	-			20					B4DZ15|Q8TCP7|Q9H0L3	Silent	SNP	ENST00000257894.2	37	c.58C>T	CCDS8788.1																																																																																				0.517	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		10	22	0	0	0	1	0	10	22					A	49999203	G	A	49999203	2	1	10	1	0	0	0	0	0	0	0	1	5517	991	35	3		3	FAM186B	12	49999203	Silent	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	43306797	49999203	83852692	83	691										
EIF4B	1975	broad.mit.edu	37	chr12	53433961	53433961	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	aagcaagtatgctgctctctCtgttgatggtgaagatgaaa	11	6	2	4	rs577019588		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:53433961C>G	ENST00000262056.9	+	15	2116	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C	RP11-983P16.4_ENST00000550601.1_RNA|RP11-983P16.4_ENST00000607643.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.S602C|RP11-983P16.4_ENST00000546767.1_RNA|RP11-983P16.4_ENST00000546566.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.S558C|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	597					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GCTGCTCTCTCTGTTGATGGT	0.438																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1789-1791)tCt>tGt		eukaryotic translation initiation factor 4B							115	108	110					12																	53433961		1904	4115	6019	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53433961C>G	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"RNA binding motif (RRM) containing"	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.1790C>G	12.37:g.53433961C>G	ENSP00000262056:p.Ser597Cys		Somatic				RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.S558C|EIF4B_ENST00000420463.3_Missense_Mutation_p.S602C|RP11-983P16.4_ENST00000550601.1_RNA|RP11-983P16.4_ENST00000546566.1_RNA	p.S597C	NM_001417.4	NP_001408.2	WXS	Illumina GAIIx	Phase_I	P23588	IF4B_HUMAN			15	2116	+			597					Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.1790C>G	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413349	0.25465	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762	T;T	0.52983	0.64;0.64	4.26	3.35	0.38373	.	0.259489	0.33364	N	0.004981	T	0.38852	0.1056	L	0.43152	1.355	0.20563	N	0.999889	B;B;B;B	0.25169	0.119;0.073;0.0;0.073	B;B;B;B	0.21151	0.033;0.015;0.0;0.015	T	0.35624	-0.9781	10	0.48119	T	0.1	.	12.2662	0.54679	0.0:0.8269:0.173:0.0	.	558;602;573;597	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	C	597;602;573;558	ENSP00000262056:S597C;ENSP00000388806:S602C	ENSP00000262056:S597C	S	+	2	0	EIF4B	51720228	0.995000	0.38212	0.748000	0.31131	0.976000	0.68499	2.978000	0.49305	1.341000	0.45600	0.484000	0.47621	TCT		0.438	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		24	65	0	0	0	1	0	24	65					G	53433961	C	G	53433961	3	3	10	1	0	0	0	0	1	0	0	0	5029	913	32	2	1848	2	EIF4B	12	53433961	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	3434758	53433961	80417934	84	692										
CNPY2	10330	broad.mit.edu	37	chr12	56705098	56705098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ctacacgtacgtagttcttgCgatgggtggaaggatcaatc	12	8	2	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:56705098C>T	ENST00000273308.4	-	4	845	c.305G>A	c.(304-306)cGc>cAc	p.R102H	RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.R102H|RP11-977G19.11_ENST00000549860.1_RNA|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.12_ENST00000546789.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	102	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						GTAGTTCTTGCGATGGGTGGA	0.532																																						ENST00000273308.4																			0				large_intestine(2)|lung(2)	4						c.(304-306)cGc>cAc		canopy FGF signaling regulator 2							222	202	209					12																	56705098		2203	4300	6503	SO:0001583	missense	10330					endoplasmic reticulum|integral to plasma membrane	protein binding	g.chr12:56705098C>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.305G>A	12.37:g.56705098C>T	ENSP00000273308:p.Arg102His		Somatic				RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.R102H	p.R102H	NM_014255.5	NP_055070.1	WXS	Illumina GAIIx	Phase_I	Q9Y2B0	CNPY2_HUMAN			4	845	-			102			Saposin B-type.		B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.305G>A	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785469	0.90282	.	.	ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.56	4.67	0.58626	Saposin B (1);	0.000000	0.85682	D	0.000000	T	0.57695	0.2071	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.61173	-0.7116	10	0.56958	D	0.05	-24.5889	13.4557	0.61197	0.0:0.9233:0.0:0.0767	.	102	Q9Y2B0	CNPY2_HUMAN	H	102;102;102;50	ENSP00000446743:R102H;ENSP00000273308:R102H;ENSP00000448809:R102H;ENSP00000446784:R50H	ENSP00000273308:R102H	R	-	2	0	RP11-977G19.10;CNPY2	54991365	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.667000	0.83888	1.503000	0.48686	0.561000	0.74099	CGC		0.532	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		115	111	0	0	0	1	0	115	111					T	56705098	C	T	56705098	3	4	10	1	0	0	0	0	1	0	0	0	3630	768	27	1	255	1	CNPY2	12	56705098	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	3271137	56705098	77146797	85	693										
TRHDE	29953	broad.mit.edu	37	chr12	72956730	72956730	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	tatcaccatcttgggaaacaCaacagcagaaaatagaataa	6	8	2	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:72956730C>G	ENST00000261180.4	+	9	1913	c.1817C>G	c.(1816-1818)aCa>aGa	p.T606R	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	606					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						TTGGGAAACACAACAGCAGAA	0.328																																						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.(1816-1818)aCa>aGa		thyrotropin-releasing hormone degrading enzyme							94	99	97					12																	72956730		2203	4296	6499	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72956730C>G	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.1817C>G	12.37:g.72956730C>G	ENSP00000261180:p.Thr606Arg		Somatic				TRHDE_ENST00000549138.1_3'UTR	p.T606R	NM_013381.2	NP_037513.1	WXS	Illumina GAIIx	Phase_I	Q9UKU6	TRHDE_HUMAN			9	1913	+			606					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1817C>G	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.75|11.75	1.732588|1.732588	0.30684|0.30684	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000547300|ENST00000261180	.|T	.|0.01335	.|5.0	6.17|6.17	-0.118|-0.118	0.13547|0.13547	.|.	.|0.465094	.|0.23991	.|N	.|0.042564	T|T	0.00875|0.00875	0.0029|0.0029	N|N	0.25485|0.25485	0.75|0.75	0.27208|0.27208	N|N	0.959987|0.959987	.|B	.|0.12630	.|0.006	.|B	.|0.14023	.|0.01	T|T	0.47129|0.47129	-0.9141|-0.9141	5|10	.|0.12766	.|T	.|0.61	.|.	0.941|0.941	0.01355|0.01355	0.2418:0.3561:0.1006:0.3015|0.2418:0.3561:0.1006:0.3015	.|.	.|606	.|Q9UKU6	.|TRHDE_HUMAN	Q|R	193|606	.|ENSP00000261180:T606R	.|ENSP00000261180:T606R	H|T	+|+	3|2	2|0	TRHDE|TRHDE	71242997|71242997	0.936000|0.936000	0.31750|0.31750	0.967000|0.967000	0.41034|0.41034	0.773000|0.773000	0.43773|0.43773	0.745000|0.745000	0.26259|0.26259	0.178000|0.178000	0.19917|0.19917	0.655000|0.655000	0.94253|0.94253	CAC|ACA		0.328	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		32	35	0	0	0	1	0	32	35					G	72956730	C	G	72956730	3	3	10	1	0	0	0	0	1	0	0	0	16494	478	17	5	1851	5	TRHDE	12	72956730	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	16251632	72956730	60895165	86	694										
C12orf51	283450	broad.mit.edu	37	chr12	112622580	112622580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	tcccggagatcaccagcaagCggctgtgggcggtggggccc	17	13	1	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:112622580C>T	ENST00000430131.2	-	60	10069	c.8924G>A	c.(8923-8925)cGc>cAc	p.R2975H	HECTD4_ENST00000550722.1_Missense_Mutation_p.R3251H|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3225H			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2975					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)										CACCAGCAAGCGGCTGTGGGC	0.697																																						ENST00000550722.1																			0											c.(9751-9753)cGc>cAc		HECT domain containing E3 ubiquitin protein ligase 4							104	133	123					12																	112622580		2131	4229	6360	SO:0001583	missense	283450							g.chr12:112622580C>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.8924G>A	12.37:g.112622580C>T	ENSP00000404379:p.Arg2975His		Somatic				HECTD4_ENST00000430131.2_Missense_Mutation_p.R2975H|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3225H	p.R3251H	NM_001109662.3	NP_001103132.3	WXS	Illumina GAIIx	Phase_I					61	10147	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.9752G>A		.	.	.	.	.	.	.	.	.	.	C	16.88	3.243411	0.58995	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.56103	0.48;0.49;0.48	5.61	4.72	0.59763	.	.	.	.	.	T	0.41026	0.1141	L	0.29908	0.895	0.54753	D	0.999983	D	0.54047	0.964	B	0.38327	0.271	T	0.47699	-0.9097	9	0.87932	D	0	.	15.8952	0.79329	0.1365:0.8635:0.0:0.0	.	2975	Q9Y4D8	K0614_HUMAN	H	3225;2975;3251	ENSP00000366783:R3225H;ENSP00000404379:R2975H;ENSP00000449784:R3251H	ENSP00000366783:R3225H	R	-	2	0	C12orf51	111106963	1.000000	0.71417	0.997000	0.53966	0.001000	0.01503	7.065000	0.76727	1.355000	0.45865	-0.182000	0.12963	CGC		0.697	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		19	91	0	0	0	1	0	19	91					T	112622580	C	T	112622580	3	4	10	1	0	0	0	0	1	0	0	0	1698	768	27	1	3130	1	C12orf51	12	112622580	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	39665850	112622580	21229315	87	695										
RYR3	6263	broad.mit.edu	37	chr15	34018592	34018592	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	aaccctatcttccagctcatCcagacaggaaagggggaagc	10	12	2	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:34018592C>A	ENST00000389232.4	+	46	6988	c.6918C>A	c.(6916-6918)atC>atA	p.I2306I	RYR3_ENST00000415757.3_Silent_p.I2306I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2306	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)		TCCAGCTCATCCAGACAGGAA	0.547																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(6916-6918)atC>atA		ryanodine receptor 3							43	46	45					15																	34018592		2014	4188	6202	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34018592C>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.6918C>A	15.37:g.34018592C>A			Somatic				RYR3_ENST00000415757.3_Silent_p.I2306I	p.I2306I	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)	46	6988	+		all_lung(180;7.18e-09)	2306			4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.6918C>A	CCDS45210.1																																																																																				0.547	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	6	1	0	8.12818e-05	1	8.79625e-05	6	6					A	34018592	C	A	34018592	2	1	10	1	0	0	0	0	0	0	0	1	13785	845	30	2		2	RYR3	15	34018592	Silent	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08		34018592	68512800	88	696										
GOLGA6B	55889	broad.mit.edu	37	chr15	72954797	72954797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gatgctccgagagcaggaggTgcagagagtgcgggagcagg	20	7	0	2	rs201618622	byFrequency	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:72954797T>C	ENST00000421285.3	+	11	1052	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	351						Golgi apparatus (GO:0005794)		p.V351A(4)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCAGGAGGTGCAGAGAGTG	0.562													t|||	142	0.0283546	0.0159	0.0274	5008	,	,		15500	0.0258		0.0249	False		,,,				2504	0.0521					ENST00000421285.3																			4	Substitution - Missense(4)	p.V351A(4)	skin(2)|lung(1)|endometrium(1)	NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1051-1053)gTg>gCg		golgin A6 family, member B							81	81	81					15																	72954797		2063	3889	5952	SO:0001583	missense	55889							g.chr15:72954797T>C		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1052T>C	15.37:g.72954797T>C	ENSP00000408132:p.Val351Ala		Somatic					p.V351A	NM_018652.4	NP_061122.4	WXS	Illumina GAIIx	Phase_I	A6NDN3	GOG6B_HUMAN			11	1052	+			351					A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.1052T>C	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	0.612	-0.824760	0.02755	.	.	ENSG00000215186	ENST00000421285	T	0.21031	2.03	0.372	0.372	0.16173	.	.	.	.	.	T	0.07143	0.0181	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	9	0.27082	T	0.32	.	4.8248	0.13410	0.0:0.7182:0.0:0.2818	.	351	A6NDN3	GOG6B_HUMAN	A	351	ENSP00000408132:V351A	ENSP00000408132:V351A	V	+	2	0	GOLGA6B	70741851	0.000000	0.05858	0.144000	0.22314	0.053000	0.15095	-2.065000	0.01386	-1.296000	0.02353	-1.896000	0.00531	GTG		0.562	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		3	7	0	0	0	1	0	3	7					C	72954797	T	C	72954797	3	2	10	1	0	0	0	0	1	0	0	0	6566	1696	59	4	1094	4	GOLGA6B	15	72954797	Missense_Mutation	SNP	T	TCGA-N5-A4RT-01A-11D-A28R-08	38936205	72954797	29576595	89	697										
NR2F2	7026	broad.mit.edu	37	chr15	96880650	96880650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cagtgtgctttggaagaataCgttaggagccagtaccccaa	11	9	0	1	rs368117658		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:96880650C>T	ENST00000394166.3	+	3	2433	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	NR2F2_ENST00000394171.2_Silent_p.Y195Y|NR2F2_ENST00000453270.2_Silent_p.Y195Y|NR2F2_ENST00000421109.2_Silent_p.Y215Y	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	348	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)			TGGAAGAATACGTTAGGAGCC	0.493																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(1042-1044)taC>taT		nuclear receptor subfamily 2, group F, member 2		C	,,,	0,4394		0,0,2197	112	103	106		645,585,585,1044	1.9	1	15		106	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NR2F2	NM_001145155.1,NM_001145156.1,NM_001145157.1,NM_021005.3	,,,	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	,,,	215/282,195/262,195/262,348/415	96880650	1,12989	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.chr15:96880650C>T	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.1044C>T	15.37:g.96880650C>T			Somatic				NR2F2_ENST00000421109.2_Silent_p.Y215Y|NR2F2_ENST00000394171.2_Silent_p.Y195Y|NR2F2_ENST00000453270.2_Silent_p.Y195Y	p.Y348Y	NM_021005.3	NP_066285.1	WXS	Illumina GAIIx	Phase_I	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		3	2433	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		348			Important for dimerization.|Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Silent	SNP	ENST00000394166.3	37	c.1044C>T	CCDS10375.1																																																																																				0.493	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			100	42	0	0	0	1	0	100	42					T	96880650	C	T	96880650	2	4	10	1	0	0	0	0	0	0	0	1	10637	547	19	1		1	NR2F2	15	96880650	Silent	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	23925853	96880650	5650742	90	698										
NOD2	64127	broad.mit.edu	37	chr16	50745263	50745263	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	aagagacctcagccctgcacGgtttgtgccacctgcctgtc	10	15	1	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr16:50745263G>C	ENST00000300589.2	+	4	1546	c.1441G>C	c.(1441-1443)Ggt>Cgt	p.G481R	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	481	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)				AGCCCTGCACGGTTTGTGCCA	0.597																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(1441-1443)Ggt>Cgt		nucleotide-binding oligomerization domain containing 2							70	72	71					16																	50745263		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.chr16:50745263G>C	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.1441G>C	16.37:g.50745263G>C	ENSP00000300589:p.Gly481Arg		Somatic					p.G481R	NM_022162.1	NP_071445.1	WXS	Illumina GAIIx	Phase_I	Q9HC29	NOD2_HUMAN			4	1546	+		all_cancers(37;0.0156)	481			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1441G>C	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788247	0.31593	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.69561	-0.41	5.28	4.32	0.51571	.	0.000000	0.64402	D	0.000007	T	0.80874	0.4707	M	0.85373	2.75	0.54753	D	0.99998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.81265	-0.1011	10	0.54805	T	0.06	.	8.4794	0.33034	0.1783:0.0:0.8217:0.0	.	265;454;481	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	R	454;481	ENSP00000300589:G481R	ENSP00000300589:G481R	G	+	1	0	NOD2	49302764	0.997000	0.39634	0.066000	0.19879	0.117000	0.20001	2.640000	0.46579	1.216000	0.43427	0.561000	0.74099	GGT		0.597	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		41	65	0	0	0	1	0	41	65					C	50745263	G	C	50745263	3	2	10	1	0	0	0	0	1	0	0	0	10526	1116	39	5	1455	5	NOD2	16	50745263	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08		50745263	39609490	91	699										
SF3B3	23450	broad.mit.edu	37	chr16	70575650	70575650	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gccatgcctctggaagaaggAgacacattcttttttcagcc	9	11	3	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr16:70575650A>G	ENST00000302516.5	+	9	1357	c.1146A>G	c.(1144-1146)ggA>ggG	p.G382G		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	382					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)				TGGAAGAAGGAGACACATTCT	0.448																																						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.(1144-1146)ggA>ggG		splicing factor 3b, subunit 3, 130kDa							226	219	221					16																	70575650		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.chr16:70575650A>G	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.1146A>G	16.37:g.70575650A>G			Somatic					p.G382G	NM_012426.4	NP_036558.3	WXS	Illumina GAIIx	Phase_I	Q15393	SF3B3_HUMAN			9	1357	+		Ovarian(137;0.0694)	382					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.1146A>G	CCDS10894.1																																																																																				0.448	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		4	109	0	0	0	1	0	4	109					G	70575650	A	G	70575650	2	3	10	1	0	0	0	0	0	0	0	1	14167	291	11	4		4	SF3B3	16	70575650	Silent	SNP	A	TCGA-N5-A4RT-01A-11D-A28R-08	19830387	70575650	19779103	92	700										
ASGR2	433	broad.mit.edu	37	chr17	7011223	7011223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	tgatcttgtcacccacgctgCctcctggaagcggaaagcca	10	14	2	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:7011223C>T	ENST00000380952.2	-	5	620	c.356G>A	c.(355-357)gGc>gAc	p.G119D	ASGR2_ENST00000355035.5_Missense_Mutation_p.G119D|ASGR2_ENST00000446679.2_Missense_Mutation_p.G100D|ASGR2_ENST00000254850.7_Missense_Mutation_p.G95D	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	119					bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	ACCCACGCTGCCTCCTGGAAG	0.647																																						ENST00000380952.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18						c.(355-357)gGc>gAc		asialoglycoprotein receptor 2	Antihemophilic Factor(DB00025)						201	135	157					17																	7011223		2203	4300	6503	SO:0001583	missense	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7011223C>T	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"C-type lectin domain containing"	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.356G>A	17.37:g.7011223C>T	ENSP00000370339:p.Gly119Asp		Somatic				ASGR2_ENST00000446679.2_Missense_Mutation_p.G100D|ASGR2_ENST00000254850.7_Missense_Mutation_p.G95D|ASGR2_ENST00000355035.5_Missense_Mutation_p.G119D	p.G119D	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	WXS	Illumina GAIIx	Phase_I	P07307	ASGR2_HUMAN			5	620	-			119					A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	37	c.356G>A	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	C	8.066	0.769235	0.15983	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679;ENST00000450034	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	3.46	1.29	0.21616	Hepatic lectin, N-terminal (1);	0.329742	0.22019	N	0.065750	T	0.14743	0.0356	L	0.35487	1.065	0.24829	N	0.992531	P;B;B;B;B;B	0.46784	0.884;0.412;0.055;0.02;0.044;0.055	P;B;B;B;B;B	0.45794	0.493;0.148;0.05;0.029;0.045;0.075	T	0.10405	-1.0631	10	0.25106	T	0.35	.	4.2956	0.10899	0.2451:0.6304:0.0:0.1245	.	95;95;119;114;100;119	B4E1D2;P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;.;ASGR2_HUMAN;.;.;.	D	119;95;119;100;95	ENSP00000347140:G119D;ENSP00000254850:G95D;ENSP00000370339:G119D;ENSP00000405844:G100D	ENSP00000254850:G95D	G	-	2	0	ASGR2	6951947	0.002000	0.14202	0.572000	0.28498	0.108000	0.19459	0.328000	0.19681	0.386000	0.24997	0.609000	0.83330	GGC		0.647	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914		27	1	0	0	0	1	0	27	1					T	7011223	C	T	7011223	3	4	10	1	0	0	0	0	1	0	0	0	1040	739	26	3	599	3	ASGR2	17	7011223	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08		7011223	74183987	93	701										
TP53	7157	broad.mit.edu	37	chr17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ggttcatgccgcccatgcagGaactgttacacatgtagttg	11	10	1	0	rs397516437|rs28934573		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:7577559G>T	ENST00000269305.4	-	7	911	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000420246.2_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> 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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCCATGCAGGAACTGTTACA	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"		160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920673	TP53	M	rs28934573	c.(721-723)tCc>tAc	Other conserved DNA damage response genes	tumor protein p53							139	108	118					17																	7577559		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.chr17:7577559G>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.722C>A	17.37:g.7577559G>T	ENSP00000269305:p.Ser241Tyr	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.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000269305.4_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y	p.S241Y	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	854	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	241		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.722C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341685	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.52501	D	0.999952	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	0.96551	0.9408	10	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	.	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241Y;ENSP00000352610:S241Y;ENSP00000269305:S241Y;ENSP00000398846:S241Y;ENSP00000391127:S241Y;ENSP00000391478:S241Y;ENSP00000425104:S109Y;ENSP00000423862:S148Y	ENSP00000269305:S241Y	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		37	4	1	0	0.000228196	1	0.000241979	37	4					T	7577559	G	T	7577559	3	4	10	1	0	0	0	0	1	0	0	0	16396	1174	41	2	568	2	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	566336	7577559	73617651	94	702										
MYH1	4619	broad.mit.edu	37	chr17	10404746	10404746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gctcccgggagagatcagagCgctgcttctctgctttggcc	13	13	2	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:10404746C>T	ENST00000226207.5	-	27	3513	c.3419G>A	c.(3418-3420)cGc>cAc	p.R1140H	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1140					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.R1140H(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						GAGATCAGAGCGCTGCTTCTC	0.587																																						ENST00000226207.5																			1	Substitution - Missense(1)	p.R1140H(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.(3418-3420)cGc>cAc		myosin, heavy chain 1, skeletal muscle, adult							52	58	56					17																	10404746		2203	4299	6502	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10404746C>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.3419G>A	17.37:g.10404746C>T	ENSP00000226207:p.Arg1140His		Somatic				CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.R1140H	NM_005963.3	NP_005954.3	WXS	Illumina GAIIx	Phase_I	P12882	MYH1_HUMAN			27	3513	-			1140					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3419G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587971	0.86851	.	.	ENSG00000109061	ENST00000226207	D	0.82711	-1.64	5.3	5.3	0.74995	Myosin tail (1);	0.000000	0.41294	U	0.000907	D	0.92596	0.7648	H	0.97587	4.035	0.58432	D	0.999999	D	0.60160	0.987	P	0.51297	0.665	D	0.95107	0.8235	10	0.87932	D	0	.	19.3291	0.94278	0.0:1.0:0.0:0.0	.	1140	P12882	MYH1_HUMAN	H	1140	ENSP00000226207:R1140H	ENSP00000226207:R1140H	R	-	2	0	MYH1	10345471	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.756000	0.85195	2.641000	0.89580	0.650000	0.86243	CGC		0.587	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		52	9	0	0	0	1	0	52	9					T	10404746	C	T	10404746	3	4	10	1	0	0	0	0	1	0	0	0	10038	768	27	1	2456	1	MYH1	17	10404746	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	2827187	10404746	70790464	95	703										
DHRS7B	25979	broad.mit.edu	37	chr17	21075510	21075510	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cacctcagggctgggcaaagGtgggtcctggaggcagtgct	17	10	1	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:21075510G>T	ENST00000395511.3	+	2	519		c.e2+1		DHRS7B_ENST00000579303.1_Splice_Site	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CTGGGCAAAGGTGGGTCCTGG	0.677																																						ENST00000395511.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						c.e2+1		dehydrogenase/reductase (SDR family) member 7B							16	17	17					17																	21075510		2203	4300	6503	SO:0001630	splice_region_variant	25979					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21075510G>T	BC004126	CCDS11215.1	17p12	2011-09-20				ENSG00000109016		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	24547	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 1"					10810093, 11230166, 19027726	Standard	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	Q6IAN0		ENST00000395511.3:c.199+1G>T	17.37:g.21075510G>T			Somatic				DHRS7B_ENST00000579303.1_Splice_Site		NM_015510.4	NP_056325.2	WXS	Illumina GAIIx	Phase_I	Q6IAN0	DRS7B_HUMAN			2	519	+								B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Splice_Site	SNP	ENST00000395511.3	37		CCDS11215.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910798	0.52439	.	.	ENSG00000109016	ENST00000395511;ENST00000346603	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3707	0.94481	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHRS7B	21016102	1.000000	0.71417	0.984000	0.44739	0.474000	0.32979	7.434000	0.80377	2.586000	0.87340	0.655000	0.94253	.		0.677	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3	NM_015510	Intron	16	0	1	0	6.94344e-10	1	8.1264e-10	16	0					T	21075510	G	T	21075510	5	4	10	1	0	0	0	0	0	0	1	0	4498	1275	44	5	206	5	DHRS7B	17	21075510	Splice_Site	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	10670764	21075510	60119700	96	704										
NPEPPS	9520	broad.mit.edu	37	chr17	45689855	45689855	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	atgcactcctgaggggcttgGttctgggaaaactaggaaaa	13	7	1	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:45689855G>T	ENST00000322157.4	+	18	2362	c.2125G>T	c.(2125-2127)Gtt>Ttt	p.V709F	RP11-580I16.2_ENST00000582066.1_RNA|NPEPPS_ENST00000530173.1_Missense_Mutation_p.V705F|NPEPPS_ENST00000544660.1_Missense_Mutation_p.V629F|RP11-580I16.2_ENST00000582389.1_RNA	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	709					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GAGGGGCTTGGTTCTGGGAAA	0.428																																						ENST00000322157.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						c.(2125-2127)Gtt>Ttt		aminopeptidase puromycin sensitive							77	76	77					17																	45689855		1854	4096	5950	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45689855G>T	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.2125G>T	17.37:g.45689855G>T	ENSP00000320324:p.Val709Phe		Somatic				RP11-580I16.2_ENST00000582066.1_RNA|NPEPPS_ENST00000530173.1_Missense_Mutation_p.V705F|RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000544660.1_Missense_Mutation_p.V629F	p.V709F	NM_006310.3	NP_006301.3	WXS	Illumina GAIIx	Phase_I	P55786	PSA_HUMAN			18	2362	+			709					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.2125G>T	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100979	0.94245	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000544660	T;T;T	0.08546	3.08;3.08;3.08	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.24392	0.0591	M	0.81341	2.54	0.80722	D	1	P;B;P	0.41102	0.738;0.321;0.612	P;P;P	0.48141	0.568;0.512;0.468	T	0.01195	-1.1422	10	0.87932	D	0	.	18.9979	0.92821	0.0:0.0:1.0:0.0	.	705;392;709	E9PLK3;B7Z1H4;P55786	.;.;PSA_HUMAN	F	705;709;629	ENSP00000433287:V705F;ENSP00000320324:V709F;ENSP00000442461:V629F	ENSP00000320324:V709F	V	+	1	0	NPEPPS	43044854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.836000	0.99456	2.474000	0.83562	0.650000	0.86243	GTT		0.428	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		13	18	1	0	4.3838e-07	1	4.98303e-07	13	18					T	45689855	G	T	45689855	3	4	10	1	0	0	0	0	1	0	0	0	10584	1261	44	5	2195	5	NPEPPS	17	45689855	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	24614345	45689855	35505355	97	705										
ANKFN1	162282	broad.mit.edu	37	chr17	54558122	54558122	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cccatgcaattgttcttctaCgagctccagatggcagtgaa	9	11	2	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:54558122C>G	ENST00000318698.2	+	16	2078	c.2043C>G	c.(2041-2043)taC>taG	p.Y681*	ANKFN1_ENST00000566473.2_Nonsense_Mutation_p.Y681*	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	681										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGTTCTTCTACGAGCTCCAGA	0.418																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(2041-2043)taC>taG		ankyrin-repeat and fibronectin type III domain containing 1							197	190	192					17																	54558122		2203	4300	6503	SO:0001587	stop_gained	162282							g.chr17:54558122C>G	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.2043C>G	17.37:g.54558122C>G	ENSP00000321627:p.Tyr681*		Somatic				ANKFN1_ENST00000318698.2_Nonsense_Mutation_p.Y681*	p.Y681*			WXS	Illumina GAIIx	Phase_I	Q8N957	ANKF1_HUMAN			16	2043	+			681						Nonsense_Mutation	SNP	ENST00000318698.2	37	c.2043C>G	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563806	0.86335	.	.	ENSG00000153930	ENST00000318698	.	.	.	5.37	-1.95	0.07548	.	0.307499	0.36972	N	0.002313	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8791	6.1459	0.20285	0.0:0.21:0.1602:0.6299	.	.	.	.	X	681	.	ENSP00000321627:Y681X	Y	+	3	2	ANKFN1	51913121	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	0.667000	0.25112	0.013000	0.14918	-0.136000	0.14681	TAC		0.418	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		36	71	0	0	0	1	0	36	71					G	54558122	C	G	54558122	4	3	10	1	0	0	0	0	0	1	0	0	625	547	19	5	2105	5	ANKFN1	17	54558122	Nonsense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	8868267	54558122	26637088	98	706										
MUC16	94025	broad.mit.edu	37	chr19	9058814	9058814	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gtgaccactggagatatcacTtttgttggctctgagaagcc	11	9	2	3			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:9058814T>A	ENST00000397910.4	-	3	28835	c.28632A>T	c.(28630-28632)aaA>aaT	p.K9544N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9546	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						GAGATATCACTTTTGTTGGCT	0.458																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(28630-28632)aaA>aaT		mucin 16, cell surface associated							104	99	101					19																	9058814		1916	4133	6049	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058814T>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.28632A>T	19.37:g.9058814T>A	ENSP00000381008:p.Lys9544Asn		Somatic					p.K9544N	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	28835	-			9546			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28632A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.395	0.258018	0.10239	.	.	ENSG00000181143	ENST00000397910	T	0.34275	1.37	2.27	-0.00676	0.14011	.	.	.	.	.	T	0.24275	0.0588	N	0.24115	0.695	.	.	.	P	0.35821	0.523	B	0.42030	0.373	T	0.31613	-0.9937	8	0.87932	D	0	.	1.8302	0.03129	0.2761:0.1711:0.0:0.5528	.	9544	B5ME49	.	N	9544	ENSP00000381008:K9544N	ENSP00000381008:K9544N	K	-	3	2	MUC16	8919814	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.392000	0.02523	-0.068000	0.12953	0.254000	0.18369	AAA		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		20	19	0	0	0	1	0	20	19					A	9058814	T	A	9058814	3	1	10	1	0	0	0	0	1	0	0	0	9982	1606	56	4	15219	4	MUC16	19	9058814	Missense_Mutation	SNP	T	TCGA-N5-A4RT-01A-11D-A28R-08		9058814	50070169	99	707										
HPN	3249	broad.mit.edu	37	chr19	35540200	35540200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ggtgtctgttgcaggtggccGgactgtgccatgctgctcca	15	11	1	0	rs149970077	byFrequency	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:35540200G>A	ENST00000262626.2	+	3	848	c.23G>A	c.(22-24)cGg>cAg	p.R8Q	HPN_ENST00000392226.1_Missense_Mutation_p.R8Q|HPN_ENST00000597419.1_Intron	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	8					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)	GCAGGTGGCCGGACTGTGCCA	0.672													G|||	13	0.00259585	0.0091	0.0014	5008	,	,		17288	0		0	False		,,,				2504	0					ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(22-24)cGg>cAg		hepsin	Coagulation factor VIIa(DB00036)	G	GLN/ARG,GLN/ARG	30,4376	36.0+/-67.5	0,30,2173	85	83	84		23,23	-0.5	0.9	19	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	HPN	NM_002151.2,NM_182983.2	43,43	0,31,6472	AA,AG,GG		0.0116,0.6809,0.2384	benign,benign	8/418,8/418	35540200	31,12975	2203	4300	6503	SO:0001583	missense	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35540200G>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.23G>A	19.37:g.35540200G>A	ENSP00000262626:p.Arg8Gln		Somatic				HPN_ENST00000392226.1_Missense_Mutation_p.R8Q|HPN_ENST00000597419.1_Intron	p.R8Q	NM_182983.2	NP_892028.1	WXS	Illumina GAIIx	Phase_I	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	848	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		8					B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	c.23G>A	CCDS32993.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	G	13.15	2.149765	0.37923	0.006809	1.16E-4	ENSG00000105707	ENST00000262626;ENST00000392226	D;D	0.88277	-2.36;-2.36	4.85	-0.517	0.11947	.	0.325881	0.24074	N	0.041781	T	0.72740	0.3498	L	0.27053	0.805	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.62765	-0.6785	10	0.52906	T	0.07	.	7.5628	0.27862	0.4296:0.0:0.5704:0.0	.	8	P05981	HEPS_HUMAN	Q	8	ENSP00000262626:R8Q;ENSP00000376060:R8Q	ENSP00000262626:R8Q	R	+	2	0	HPN	40232040	0.690000	0.27699	0.853000	0.33588	0.955000	0.61496	-0.217000	0.09253	-0.168000	0.10853	0.313000	0.20887	CGG		0.672	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		31	216	0	0	0	1	0	31	216					A	35540200	G	A	35540200	3	1	10	1	0	0	0	0	1	0	0	0	7345	1116	39	1	29	1	HPN	19	35540200	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	26481386	35540200	23588783	100	708										
ZFP36	7538	broad.mit.edu	37	chr19	39898948	39898950	+	In_Frame_Del	DEL	CAC	CAC	-													0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gccctctggccgccggacctCaccaccaccaccaggcctgg							TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:39898948_39898950delCAC	ENST00000248673.3	+	2	648_650	c.590_592delCAC	c.(589-594)tcacca>tca	p.P201del	MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_In_Frame_Del_p.P207del	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	201					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)			CGCCGGACCTCACCACCACCACC	0.685																																					NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(607-612)tca>t		ZFP36 ring finger protein				17,4235		5,7,2114						3.3	0.1			74	14,8216		2,10,4103	no	coding	ZFP36	NM_003407.2		7,17,6217	A1A1,A1R,RR		0.1701,0.3998,0.2484				31,12451				SO:0001651	inframe_deletion	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.chr19:39898948_39898950delCAC	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.590_592delCAC	19.37:g.39898957_39898959delCAC	ENSP00000248673:p.Pro201del		Somatic				ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del	p.SP203del			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	682_684	+	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)		197					B2RA54	In_Frame_Del	DEL	ENST00000248673.3	37	c.608_610delCAC																																																																																					0.685	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				10	1302						10	1302	---	---	---	---	-	39898950	CAC	-	39898948	7	5	10	1	0	1	0	1	0	0	0	0	17660	838	29	0	596	0	ZFP36	19	39898948	In_Frame_Del	DEL	CAC	TCGA-N5-A4RT-01A-11D-A28R-08	4358748	39898948	19230035	101	709										
CYP2S1	29785	broad.mit.edu	37	chr19	41707232	41707232	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cgatgacggtcagcaccacgGtcggctataccctcctgctc	10	16	1	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:41707232G>T	ENST00000310054.4	+	6	1147	c.931G>T	c.(931-933)Gtc>Ttc	p.V311F	CYP2S1_ENST00000542619.1_Missense_Mutation_p.V36F	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	311					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						CAGCACCACGGTCGGCTATAC	0.498																																						ENST00000310054.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						c.(931-933)Gtc>Ttc		cytochrome P450, family 2, subfamily S, polypeptide 1							155	139	144					19																	41707232		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.chr19:41707232G>T	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"Cytochrome P450s"	15654	protein-coding gene	gene with protein product		611529	"cytochrome P450, subfamily IIS, polypeptide 1"			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.931G>T	19.37:g.41707232G>T	ENSP00000308032:p.Val311Phe		Somatic				CYP2S1_ENST00000542619.1_Missense_Mutation_p.V36F	p.V311F	NM_030622.6	NP_085125.1	WXS	Illumina GAIIx	Phase_I	Q96SQ9	CP2S1_HUMAN			6	1147	+			311					Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	c.931G>T	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462244	0.43736	.	.	ENSG00000167600	ENST00000301173;ENST00000310054;ENST00000542619	T;T	0.69561	-0.41;-0.41	5.2	-5.53	0.02552	.	0.529350	0.17328	U	0.178228	T	0.46190	0.1380	L	0.29908	0.895	0.09310	N	1	B;P	0.44946	0.02;0.846	B;B	0.41236	0.03;0.351	T	0.50783	-0.8787	10	0.87932	D	0	.	7.2777	0.26294	0.4811:0.3483:0.1706:0.0	.	36;311	B4DJI0;Q96SQ9	.;CP2S1_HUMAN	F	311;311;36	ENSP00000308032:V311F;ENSP00000445299:V36F	ENSP00000301173:V311F	V	+	1	0	CYP2S1	46399072	0.027000	0.19231	0.001000	0.08648	0.887000	0.51463	1.082000	0.30803	-0.650000	0.05423	0.478000	0.44815	GTC		0.498	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			36	87	1	0	1.08052e-11	1	1.27405e-11	36	87					T	41707232	G	T	41707232	3	4	10	1	0	0	0	0	1	0	0	0	4176	1261	44	5	953	5	CYP2S1	19	41707232	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	1808284	41707232	17421751	102	710										
ZNF234	10780	broad.mit.edu	37	chr19	44660704	44660704	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gagagaagtctcatacatgtGatgagtgtggaaaaagcttc	12	5	1	3			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:44660704G>A	ENST00000426739.2	+	6	793	c.535G>A	c.(535-537)Gat>Aat	p.D179N	ZNF234_ENST00000592437.1_Missense_Mutation_p.D179N	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	179					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCATACATGTGATGAGTGTGG	0.388																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(535-537)Gat>Aat		zinc finger protein 234							137	139	138					19																	44660704		2203	4300	6503	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44660704G>A	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.535G>A	19.37:g.44660704G>A	ENSP00000400878:p.Asp179Asn		Somatic				ZNF234_ENST00000592437.1_Missense_Mutation_p.D179N	p.D179N	NM_006630.2	NP_006621.1	WXS	Illumina GAIIx	Phase_I	Q14588	ZN234_HUMAN			6	793	+		Prostate(69;0.0435)	179					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.535G>A	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809981	0.31961	.	.	ENSG00000167380	ENST00000426739;ENST00000542402	T	0.19532	2.14	4.19	-8.39	0.00969	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09202	0.0227	L	0.37561	1.115	0.09310	N	1	B	0.19331	0.035	B	0.25140	0.058	T	0.43180	-0.9407	9	0.02654	T	1	.	1.732	0.02934	0.2195:0.1044:0.1968:0.4792	.	179	Q14588	ZN234_HUMAN	N	179;10	ENSP00000400878:D179N	ENSP00000400878:D179N	D	+	1	0	ZNF226	49352544	0.000000	0.05858	0.000000	0.03702	0.992000	0.81027	-5.948000	0.00089	-1.769000	0.01297	0.586000	0.80456	GAT		0.388	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			35	78	0	0	0	1	0	35	78					A	44660704	G	A	44660704	3	1	10	1	0	0	0	0	1	0	0	0	17802	1290	45	3	549	3	ZNF234	19	44660704	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	2953472	44660704	14468279	103	711										
RASIP1	54922	broad.mit.edu	37	chr19	49228098	49228098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	tccaaggctgcctggaacacGcccagggtaggtctcaatcc	11	14	1	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:49228098G>A	ENST00000222145.4	-	9	2451	c.2247C>T	c.(2245-2247)ggC>ggT	p.G749G		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	749	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		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;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCTGGAACACGCCCAGGGTAG	0.612																																						ENST00000222145.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21						c.(2245-2247)ggC>ggT		Ras interacting protein 1							82	83	83					19																	49228098		2203	4300	6503	SO:0001819	synonymous_variant	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49228098G>A	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2247C>T	19.37:g.49228098G>A			Somatic					p.G749G	NM_017805.2	NP_060275.2	WXS	Illumina GAIIx	Phase_I	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	9	2451	-		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)	749			Dilute.		Q6U676	Silent	SNP	ENST00000222145.4	37	c.2247C>T	CCDS12731.1																																																																																				0.612	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		38	87	0	0	0	1	0	38	87					A	49228098	G	A	49228098	2	1	10	1	0	0	0	0	0	0	0	1	13093	1074	38	1		1	RASIP1	19	49228098	Silent	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	4567394	49228098	9900885	104	712										
CCDC155	147872	broad.mit.edu	37	chr19	49920659	49920659	+	Frame_Shift_Del	DEL	C	C	-													0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ccactgatcccagctcctgtCctgggcctgctgctgctgct							TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:49920659delC	ENST00000447857.3	+	20	1786	c.1581delC	c.(1579-1581)gtcfs	p.V527fs		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	527						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CAGCTCCTGTCCTGGGCctgc	0.652																																						ENST00000447857.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(1579-1581)gtfs		coiled-coil domain containing 155							47	54	52					19																	49920659		2125	4218	6343	SO:0001589	frameshift_variant	147872					integral to membrane	calcium ion binding	g.chr19:49920659delC		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1581delC	19.37:g.49920659delC	ENSP00000404220:p.Val527fs		Somatic					p.V527fs	NM_144688.4	NP_653289.3	WXS	Illumina GAIIx	Phase_I	Q8N6L0	CC155_HUMAN			20	1786	+			527					Q96MC3	Frame_Shift_Del	DEL	ENST00000447857.3	37	c.1581delC	CCDS46140.1																																																																																				0.652	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		2	4						2	4	---	---	---	---	-	49920659	C	-	49920659	7	5	10	1	0	1	0	1	0	0	0	0	2790	842	30	0	1655	0	CCDC155	19	49920659	Frame_Shift_Del	DEL	C	TCGA-N5-A4RT-01A-11D-A28R-08	692561	49920659	9208324	105	713										
TIAM1	7074	broad.mit.edu	37	chr21	32513671	32513671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	tggtagtgctcctcgctctcCgcatcggtcagggcgaacag	13	13	2	0	rs367873088		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr21:32513671C>T	ENST00000286827.3	-	22	4098	c.3627G>A	c.(3625-3627)gcG>gcA	p.A1209A	TIAM1_ENST00000541036.1_Silent_p.A1149A	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1209	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)	p.A1209A(2)		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						CCTCGCTCTCCGCATCGGTCA	0.597																																						ENST00000286827.3																			2	Substitution - coding silent(2)	p.A1209A(2)	lung(2)	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.(3625-3627)gcG>gcA		T-cell lymphoma invasion and metastasis 1		C		1,4405	2.1+/-5.4	0,1,2202	111	99	103		3627	-11.1	0	21		103	0,8600		0,0,4300	no	coding-synonymous	TIAM1	NM_003253.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1209/1592	32513671	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	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.chr21:32513671C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3627G>A	21.37:g.32513671C>T			Somatic				TIAM1_ENST00000541036.1_Silent_p.A1149A	p.A1209A	NM_003253.2	NP_003244.2	WXS	Illumina GAIIx	Phase_I	Q13009	TIAM1_HUMAN			22	4098	-			1209			DH.		B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.3627G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	0.170	-1.072346	0.01918	2.27E-4	0.0	ENSG00000156299	ENST00000399841	.	.	.	5.54	-11.1	0.00147	.	.	.	.	.	T	0.46814	0.1412	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62704	-0.6798	5	0.87932	D	0	.	1.2185	0.01919	0.2539:0.2312:0.2994:0.2155	.	.	.	.	R	1049	.	ENSP00000382735:G1049R	G	-	1	0	TIAM1	31435542	0.000000	0.05858	0.008000	0.14137	0.060000	0.15804	-9.102000	0.00014	-3.099000	0.00245	-3.037000	0.00071	GGA		0.597	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		35	98	0	0	0	1	0	35	98					T	32513671	C	T	32513671	2	4	10	1	0	0	0	0	0	0	0	1	15905	639	23	1		1	TIAM1	21	32513671	Silent	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08		32513671	15616224	106	714										
SIK1	150094	broad.mit.edu	37	chr21	44840174	44840174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	atacccagcgcctgctcatcGtagtcgcccaggttggaggt	12	13	1	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr21:44840174G>A	ENST00000270162.6	-	8	1044	c.912C>T	c.(910-912)taC>taT	p.Y304Y		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	304	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CCTGCTCATCGTAGTCGCCCA	0.692																																						ENST00000270162.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						c.(910-912)taC>taT		salt-inducible kinase 1							50	48	49					21																	44840174		2203	4300	6503	SO:0001819	synonymous_variant	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44840174G>A	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.912C>T	21.37:g.44840174G>A			Somatic					p.Y304Y	NM_173354.3	NP_775490.2	WXS	Illumina GAIIx	Phase_I	P57059	SIK1_HUMAN			8	1044	-			304			UBA.		A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP	ENST00000270162.6	37	c.912C>T	CCDS33575.1																																																																																				0.692	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		42	32	0	0	0	1	0	42	32					A	44840174	G	A	44840174	2	1	10	1	0	0	0	0	0	0	0	1	14332	1140	40	1		1	SIK1	21	44840174	Silent	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	12326503	44840174	3289721	107	715										
PKDREJ	10343	broad.mit.edu	37	chr22	46657752	46657752	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	caaaattgaccatttatagaAatcacggcttgcacaatttg	6	8	1	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr22:46657752A>C	ENST00000253255.5	-	1	1467	c.1468T>G	c.(1468-1470)Ttc>Gtc	p.F490V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	490	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)		CATTTATAGAAATCACGGCTT	0.368																																						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.(1468-1470)Ttc>Gtc		polycystin (PKD) family receptor for egg jelly							124	141	135					22																	46657752		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46657752A>C	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.1468T>G	22.37:g.46657752A>C	ENSP00000253255:p.Phe490Val		Somatic					p.F490V	NM_006071.1	NP_006062.1	WXS	Illumina GAIIx	Phase_I	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1467	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	490			REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.1468T>G	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	A	4.790	0.146861	0.09134	.	.	ENSG00000130943	ENST00000253255	T	0.70164	-0.46	5.18	-10.4	0.00318	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	2.787020	0.00998	N	0.003626	T	0.36744	0.0978	N	0.02315	-0.6	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.30504	-0.9976	10	0.16896	T	0.51	-1.0969	13.5294	0.61613	0.1224:0.7411:0.0625:0.074	.	490	Q9NTG1	PKDRE_HUMAN	V	490	ENSP00000253255:F490V	ENSP00000253255:F490V	F	-	1	0	PKDREJ	45036416	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-3.154000	0.00580	-1.912000	0.01081	-0.291000	0.09656	TTC		0.368	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		51	57	0	0	0	1	0	51	57					C	46657752	A	C	46657752	3	2	10	1	0	0	0	0	1	0	0	0	11979	14	1	4	5297	4	PKDREJ	22	46657752	Missense_Mutation	SNP	A	TCGA-N5-A4RT-01A-11D-A28R-08		46657752	4646814	108	716										
CELSR1	9620	broad.mit.edu	37	chr22	46804949	46804949	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ctccatcagaacgctgtcctCcttccgggtccggaacatga	9	15	1	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr22:46804949C>G	ENST00000262738.3	-	9	5169	c.5170G>C	c.(5170-5172)Gag>Cag	p.E1724Q		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1724	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGCTGTCCTCCTTCCGGGTC	0.642																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(5170-5172)Gag>Cag		cadherin, EGF LAG seven-pass G-type receptor 1							69	61	64					22																	46804949		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46804949C>G	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5170G>C	22.37:g.46804949C>G	ENSP00000262738:p.Glu1724Gln		Somatic					p.E1724Q	NM_014246.1	NP_055061.1	WXS	Illumina GAIIx	Phase_I	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	9	5169	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1724			Laminin G-like 2.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.5170G>C	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	9.028	0.986567	0.18889	.	.	ENSG00000075275	ENST00000262738	T	0.78481	-1.18	4.56	4.56	0.56223	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.542425	0.15893	U	0.239473	T	0.73458	0.3589	L	0.38838	1.175	0.80722	D	1	P;B	0.52316	0.952;0.396	P;B	0.50270	0.636;0.348	T	0.66893	-0.5808	10	0.14252	T	0.57	.	12.1047	0.53805	0.1721:0.8279:0.0:0.0	.	37;1724	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	Q	1724	ENSP00000262738:E1724Q	ENSP00000262738:E1724Q	E	-	1	0	CELSR1	45183613	0.897000	0.30589	0.997000	0.53966	0.701000	0.40568	2.547000	0.45786	2.090000	0.63153	0.561000	0.74099	GAG		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		46	3	0	0	0	1	0	46	3					G	46804949	C	G	46804949	3	3	10	1	0	0	0	0	1	0	0	0	3223	864	30	2	3982	2	CELSR1	22	46804949	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	147197	46804949	4499617	109	717										
HDAC10	83933	broad.mit.edu	37	chr22	50686488	50686488	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	gctcggtgcagatgcagctgCcttacacactggacccccag	11	15	0	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr22:50686488C>A	ENST00000216271.5	-	13	1520	c.1168G>T	c.(1168-1170)Gca>Tca	p.A390S	HDAC10_ENST00000349505.4_Missense_Mutation_p.A370S|HDAC10_ENST00000448072.1_Missense_Mutation_p.A340S|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	390					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)		GATGCAGCTGCCTTACACACT	0.652																																						ENST00000216271.5																			0				endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8						c.(1168-1170)Gca>Tca		histone deacetylase 10							32	31	31					22																	50686488		2202	4297	6499	SO:0001583	missense	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.chr22:50686488C>A	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.1168G>T	22.37:g.50686488C>A	ENSP00000216271:p.Ala390Ser		Somatic				HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.A340S|HDAC10_ENST00000349505.4_Missense_Mutation_p.A370S	p.A390S	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)	13	1520	-		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)	390					Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	ENST00000216271.5	37	c.1168G>T	CCDS14088.1	.	.	.	.	.	.	.	.	.	.	C	8.768	0.925153	0.18056	.	.	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	T;T;T	0.29655	1.56;1.56;1.56	4.48	-0.0904	0.13665	.	2.375910	0.01762	N	0.030611	T	0.22003	0.0530	L	0.39898	1.24	0.19300	N	0.999974	B;B;B;B;B	0.22909	0.003;0.012;0.001;0.077;0.054	B;B;B;B;B	0.17722	0.013;0.005;0.001;0.019;0.013	T	0.07908	-1.0748	10	0.09590	T	0.72	-0.0826	3.9864	0.09517	0.0:0.5217:0.177:0.3013	.	370;380;340;390;390	Q969S8-2;E2QRD2;C9J8B8;Q969S8-4;Q969S8	.;.;.;.;HDA10_HUMAN	S	390;340;370	ENSP00000216271:A390S;ENSP00000397542:A340S;ENSP00000343540:A370S	ENSP00000216271:A390S	A	-	1	0	HDAC10	49028615	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.137000	0.15995	-0.013000	0.14199	-0.216000	0.12614	GCA		0.652	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4	NM_032019		6	58	1	0	3.59834e-05	1	3.94817e-05	6	58					A	50686488	C	A	50686488	3	1	10	1	0	0	0	0	1	0	0	0	7014	739	26	5	873	5	HDAC10	22	50686488	Missense_Mutation	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	3881539	50686488	618078	110	718										
PLCXD1	55344	broad.mit.edu	37	chrX	215882	215882	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ccgcggctgagcgcgtgggtCcgagagcagtgcccggggcc	19	14	0	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:215882C>T	ENST00000381657.2	+	7	1366	c.852C>T	c.(850-852)gtC>gtT	p.V284V	PLCXD1_ENST00000399012.1_Silent_p.V284V|PLCXD1_ENST00000381663.3_Silent_p.V284V	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	284					lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGCGTGGGTCCGAGAGCAGT	0.647																																						ENST00000381657.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(850-852)gtC>gtT		phosphatidylinositol-specific phospholipase C, X domain containing 1							96	89	91					X																	215882		2203	4296	6499	SO:0001819	synonymous_variant	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:215882C>T	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"Pseudoautosomal regions / PAR1"	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.852C>T	X.37:g.215882C>T			Somatic				PLCXD1_ENST00000399012.1_Silent_p.V284V|PLCXD1_ENST00000381663.3_Silent_p.V284V	p.V284V	NM_018390.3	NP_060860.1	WXS	Illumina GAIIx	Phase_I	Q9NUJ7	PLCX1_HUMAN			7	1366	+		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)	284					A2BH51|A2BH52	Silent	SNP	ENST00000381657.2	37	c.852C>T	CCDS14103.1																																																																																				0.647	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		9	74	0	0	0	1	0	9	74					T	215882	C	T	215882	2	4	10	1	0	0	0	0	0	0	0	1	12050	842	30	3		3	PLCXD1	23	215882	Silent	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08		215882	155054678	111	719										
AP1S2	8905	broad.mit.edu	37	chrX	15864064	15864064	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	aagtaattccacataacgatGaattatttccagggtaatta	6	6	0	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:15864064G>T	ENST00000329235.2	-	3	493	c.250C>A	c.(250-252)Cat>Aat	p.H84N	AP1S2_ENST00000421527.2_Missense_Mutation_p.H126N|AP1S2_ENST00000479184.1_5'Flank|AP1S2_ENST00000380291.1_Missense_Mutation_p.H84N|AP1S2_ENST00000545766.1_Missense_Mutation_p.H126N	NM_001272071.1|NM_003916.3	NP_001259000.1|NP_003907.3	P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit	84					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)	AP-type membrane coat adaptor complex (GO:0030119)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			large_intestine(1)	1	Hepatocellular(33;0.183)					ACATAACGATGAATTATTTCC	0.318																																						ENST00000380291.1																			0				large_intestine(1)	1						c.(250-252)Cat>Aat		adaptor-related protein complex 1, sigma 2 subunit							86	87	87					X																	15864064		2203	4295	6498	SO:0001583	missense	8905				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity	g.chrX:15864064G>T	AB015320	CCDS14173.1, CCDS75958.1	Xp22	2014-01-31			ENSG00000182287	ENSG00000182287			560	protein-coding gene	gene with protein product		300629	"mental retardation, X-linked 59", "mental retardation, X-linked, syndromic 5", "Pettigrew X-linked mental retardation syndrome"	MRX59, MRXS5, PGS		9733768, 17186471, 23756445	Standard	NM_003916		Approved	SIGMA1B	uc010nex.4	P56377	OTTHUMG00000021186	ENST00000329235.2:c.250C>A	X.37:g.15864064G>T	ENSP00000328789:p.His84Asn		Somatic				AP1S2_ENST00000421527.2_Missense_Mutation_p.H126N|AP1S2_ENST00000329235.2_Missense_Mutation_p.H84N|AP1S2_ENST00000545766.1_Missense_Mutation_p.H126N	p.H84N			WXS	Illumina GAIIx	Phase_I	P56377	AP1S2_HUMAN			3	366	-	Hepatocellular(33;0.183)		84					B4DSU4|O95326|Q9H2N6	Missense_Mutation	SNP	ENST00000329235.2	37	c.250C>A	CCDS14173.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	g|g|g	28.6|28.6|28.6	4.933560|4.933560|4.933560	0.92458|0.92458|0.92458	.|.|.	.|.|.	ENSG00000182287|ENSG00000182287|ENSG00000182287	ENST00000450644|ENST00000329235;ENST00000380291;ENST00000545766;ENST00000421527;ENST00000340245|ENST00000452376	.|.|.	.|.|.	.|.|.	5.87|5.87|5.87	5.87|5.87|5.87	0.94306|0.94306|0.94306	.|Longin-like (1);AP complex, mu/sigma subunit (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|.	0.91389|0.91389|.	0.7283|0.7283|.	H|H|H	0.99058|0.99058|0.99058	4.415|4.415|4.415	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D;D;D|.	.|0.89917|.	.|1.0;0.999;1.0;0.999;0.999;1.0|.	.|D;D;D;D;D;D|.	.|0.97110|.	.|1.0;0.99;1.0;0.996;0.996;0.997|.	D|D|.	0.94685|0.94685|.	0.7869|0.7869|.	5|9|.	.|0.87932|.	.|D|.	.|0|.	-20.7465|-20.7465|-20.7465	19.1328|19.1328|19.1328	0.93414|0.93414|0.93414	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|84;126;126;84;84;81|.	.|B7Z853;B4DSU4;B7Z3M9;Q549M9;P56377;E9PE78|.	.|.;.;.;.;AP1S2_HUMAN;.|.	L|N|X	76|84;84;126;126;81|80	.|.|.	.|ENSP00000328789:H84N|.	F|H|S	-|-|-	3|1|2	2|0|0	AP1S2|AP1S2|AP1S2	15773985|15773985|15773985	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	9.358000|9.358000|9.358000	0.97109|0.97109|0.97109	2.468000|2.468000|2.468000	0.83385|0.83385|0.83385	0.597000|0.597000|0.597000	0.82753|0.82753|0.82753	TTC|CAT|TCA		0.318	AP1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055893.1	NM_003916		37	65	1	0	4.32679e-17	1	5.34088e-17	37	65					T	15864064	G	T	15864064	3	4	10	1	0	0	0	0	1	0	0	0	737	1290	45	2	235	2	AP1S2	23	15864064	Missense_Mutation	SNP	G	TCGA-N5-A4RT-01A-11D-A28R-08	15648182	15864064	139406496	112	720										
WDR45	11152	broad.mit.edu	37	chrX	48933595	48933595	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	tctccaggctggggcagaggTcacagagccctagggtgtga	16	10	2	3			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:48933595T>A	ENST00000376372.3	-	7	627	c.446A>T	c.(445-447)gAc>gTc	p.D149V	PRAF2_ENST00000491199.1_5'Flank|AF196779.12_ENST00000376358.3_Missense_Mutation_p.D47V|WDR45_ENST00000356463.3_Missense_Mutation_p.D150V|PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000473974.1_Missense_Mutation_p.D149V|WDR45_ENST00000485908.1_Missense_Mutation_p.D114V|WDR45_ENST00000376368.2_Missense_Mutation_p.D150V|WDR45_ENST00000322995.8_Missense_Mutation_p.D160V|WDR45_ENST00000553851.1_Missense_Mutation_p.D47V|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000396681.4_Missense_Mutation_p.D149V	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	149					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GGGGCAGAGGTCACAGAGCCC	0.597																																						ENST00000356463.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						c.(448-450)gAc>gTc		WD repeat domain 45							50	40	44					X																	48933595		2203	4300	6503	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48933595T>A	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"WD repeat domain containing"	28912	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 5"	300526	"WD repeat domain, X-linked 1"	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.446A>T	X.37:g.48933595T>A	ENSP00000365551:p.Asp149Val		Somatic				WDR45_ENST00000376358.3_Missense_Mutation_p.D47V|WDR45_ENST00000376372.3_Missense_Mutation_p.D149V|WDR45_ENST00000396681.4_Missense_Mutation_p.D149V|WDR45_ENST00000473974.1_Missense_Mutation_p.D149V|WDR45_ENST00000485908.1_Missense_Mutation_p.D114V|WDR45_ENST00000322995.8_Missense_Mutation_p.D160V|WDR45_ENST00000553851.1_Missense_Mutation_p.D47V|WDR45_ENST00000376368.2_Missense_Mutation_p.D150V|WDR45_ENST00000470270.1_5'UTR	p.D150V	NM_007075.3	NP_009006.2	WXS	Illumina GAIIx	Phase_I	Q9Y484	WIPI4_HUMAN			8	887	-			149					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	c.449A>T	CCDS35250.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.546|9.546	1.114573|1.114573	0.20795|0.20795	.|.	.|.	ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000250232|ENSG00000196998	ENST00000553851;ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000471338;ENST00000475880;ENST00000474053;ENST00000419567;ENST00000476728;ENST00000376358|ENST00000367375	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.53857|.	2.27;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;2.27|.	3.92|3.92	3.92|3.92	0.45320|0.45320	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.51024|.	0.1650|.	L|L	0.28556|0.28556	0.865|0.865	0.80722|0.80722	D|D	1|1	P;B;B;P;B;B|.	0.45531|.	0.86;0.087;0.057;0.459;0.017;0.09|.	B;B;B;B;B;B|.	0.42959|.	0.221;0.04;0.054;0.403;0.026;0.008|.	T|.	0.44605|.	-0.9317|.	10|.	0.11182|.	T|.	0.66|.	-16.5073|-16.5073	11.5779|11.5779	0.50875|0.50875	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	47;149;160;114;150;149|.	A6NM71;C9J471;Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484|.	.;.;.;.;.;WIPI4_HUMAN|.	V|C	47;149;160;150;114;149;150;149;82;115;174;167;125;47|105	ENSP00000451962:D47V;ENSP00000365551:D149V;ENSP00000365543:D160V;ENSP00000348848:D150V;ENSP00000419897:D114V;ENSP00000417211:D149V;ENSP00000365546:D150V;ENSP00000379913:D149V;ENSP00000418466:D82V;ENSP00000418919:D115V;ENSP00000420728:D174V;ENSP00000393640:D167V;ENSP00000419324:D125V;ENSP00000365536:D47V|.	ENSP00000365536:D47V|.	D|X	-|-	2|3	0|0	AF196779.12;WDR45|WDR45	48820539|48820539	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.530000|7.530000	0.81962|0.81962	1.525000|1.525000	0.49052|0.49052	0.432000|0.432000	0.28606|0.28606	GAC|TGA		0.597	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		8	25	0	0	0	1	0	8	25					A	48933595	T	A	48933595	3	1	10	1	0	0	0	0	1	0	0	0	17312	1667	58	4	656	4	WDR45	23	48933595	Missense_Mutation	SNP	T	TCGA-N5-A4RT-01A-11D-A28R-08	33069531	48933595	106336965	113	721										
GSPT2	23708	broad.mit.edu	37	chrX	51487066	51487066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	acctgtggaaccttcccgagAggaaccgttagtgtcgcttg	12	11	0	1			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:51487066A>G	ENST00000340438.4	+	1	586	c.344A>G	c.(343-345)gAg>gGg	p.E115G		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	115					cell cycle (GO:0007049)|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)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CCTTCCCGAGAGGAACCGTTA	0.557																																						ENST00000340438.4																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(343-345)gAg>gGg		G1 to S phase transition 2							19	18	18					X																	51487066		2202	4296	6498	SO:0001583	missense	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51487066A>G	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.344A>G	X.37:g.51487066A>G	ENSP00000341247:p.Glu115Gly		Somatic					p.E115G	NM_018094.4	NP_060564.2	WXS	Illumina GAIIx	Phase_I	Q8IYD1	ERF3B_HUMAN			1	586	+	Ovarian(276;0.236)		115					Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	ENST00000340438.4	37	c.344A>G	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	A	2.577	-0.298351	0.05532	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.32988	1.43	4.86	3.67	0.42095	.	0.590265	0.15513	N	0.258438	T	0.24314	0.0589	L	0.43152	1.355	0.32629	N	0.522305	B	0.02656	0.0	B	0.04013	0.001	T	0.18903	-1.0322	10	0.33141	T	0.24	-10.9936	7.7739	0.29026	0.7902:0.2098:0.0:0.0	.	115	Q8IYD1	ERF3B_HUMAN	G	115;32	ENSP00000341247:E115G	ENSP00000341247:E115G	E	+	2	0	GSPT2	51503806	1.000000	0.71417	0.980000	0.43619	0.002000	0.02628	2.669000	0.46825	0.773000	0.33404	-0.394000	0.06481	GAG		0.557	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			5	22	0	0	0	1	0	5	22					G	51487066	A	G	51487066	3	3	10	1	0	0	0	0	1	0	0	0	6836	304	11	4	346	4	GSPT2	23	51487066	Missense_Mutation	SNP	A	TCGA-N5-A4RT-01A-11D-A28R-08	2553471	51487066	103783494	114	722										
MED12	9968	broad.mit.edu	37	chrX	70350051	70350051	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cccccagcggcagcgcataaAgcgcattctccaggtaggcc	11	16	1	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:70350051A>C	ENST00000374080.3	+	28	4066	c.4034A>C	c.(4033-4035)aAg>aCg	p.K1345T	MED12_ENST00000374102.1_Missense_Mutation_p.K1345T|MED12_ENST00000333646.6_Missense_Mutation_p.K1345T			Q93074	MED12_HUMAN	mediator complex subunit 12	1345					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)					CAGCGCATAAAGCGCATTCTC	0.577			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(4033-4035)aAg>aCg		mediator complex subunit 12							26	24	25					X																	70350051		1957	4136	6093	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:70350051A>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.4034A>C	X.37:g.70350051A>C	ENSP00000363193:p.Lys1345Thr		Somatic				MED12_ENST00000374080.3_Missense_Mutation_p.K1345T|MED12_ENST00000478889.1_Intron|MED12_ENST00000374102.1_Missense_Mutation_p.K1345T	p.K1345T	NM_005120.2	NP_005111.2	WXS	Illumina GAIIx	Phase_I	Q93074	MED12_HUMAN			28	4233	+	Renal(35;0.156)		1345					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.4034A>C	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	A	6.651	0.488608	0.12641	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	D;D;D;D;T	0.84516	-1.86;-1.86;-1.86;-1.86;1.43	4.48	3.29	0.37713	.	0.051921	0.85682	N	0.000000	T	0.76849	0.4045	L	0.40543	1.245	0.54753	D	0.999985	P;B;B;B	0.35542	0.508;0.039;0.178;0.374	B;B;B;B	0.36504	0.226;0.027;0.12;0.205	T	0.67929	-0.5543	10	0.13108	T	0.6	-17.376	10.6611	0.45702	0.8413:0.1587:0.0:0.0	.	1345;1192;1345;1345	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	T	1345;1345;1345;1345;1313;90	ENSP00000333125:K1345T;ENSP00000363215:K1345T;ENSP00000363193:K1345T;ENSP00000414203:K1313T;ENSP00000408388:K90T	ENSP00000333125:K1345T	K	+	2	0	MED12	70266776	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	6.927000	0.75840	0.657000	0.30906	0.441000	0.28932	AAG		0.577	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		6	25	0	0	0	1	0	6	25					C	70350051	A	C	70350051	3	2	10	1	0	0	0	0	1	0	0	0	9437	72	3	4	4144	4	MED12	23	70350051	Missense_Mutation	SNP	A	TCGA-N5-A4RT-01A-11D-A28R-08	18862985	70350051	84920509	115	723										
MED12	9968	broad.mit.edu	37	chrX	70356869	70356869	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	ctgtacacccagaaccagccActacctgcaggtgagtgcca	9	15	0	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:70356869A>G	ENST00000374080.3	+	38	5573	c.5541A>G	c.(5539-5541)ccA>ccG	p.P1847P	MED12_ENST00000374102.1_Silent_p.P1847P|MED12_ENST00000333646.6_Silent_p.P1847P			Q93074	MED12_HUMAN	mediator complex subunit 12	1847	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGAACCAGCCACTACCTGCAG	0.567			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(5539-5541)ccA>ccG		mediator complex subunit 12							12	15	14					X																	70356869		2008	4146	6154	SO:0001819	synonymous_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70356869A>G	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.5541A>G	X.37:g.70356869A>G			Somatic				MED12_ENST00000374080.3_Silent_p.P1847P|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_Silent_p.P1847P	p.P1847P	NM_005120.2	NP_005111.2	WXS	Illumina GAIIx	Phase_I	Q93074	MED12_HUMAN			38	5740	+	Renal(35;0.156)		1847			Interaction with CTNNB1 and GLI3.		O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	c.5541A>G	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	-	2.446	-0.327430	0.05350	.	.	ENSG00000184634	ENST00000444034	.	.	.	3.78	-4.35	0.03656	.	.	.	.	.	T	0.35828	0.0945	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37526	-0.9702	4	.	.	.	-7.2683	0.727	0.00950	0.3513:0.2126:0.2705:0.1656	.	.	.	.	R	68	.	.	H	+	2	0	MED12	70273594	0.885000	0.30320	0.810000	0.32431	0.642000	0.38348	-0.001000	0.12947	-0.616000	0.05671	-2.824000	0.00108	CAC		0.567	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		9	12	0	0	0	1	0	9	12					G	70356869	A	G	70356869	2	3	10	1	0	0	0	0	0	0	0	1	9437	146	6	4		4	MED12	23	70356869	Silent	SNP	A	TCGA-N5-A4RT-01A-11D-A28R-08	6818	70356869	84913691	116	724										
CHM	1121	broad.mit.edu	37	chrX	85211373	85211373	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	aaatattcataaaatgtgatCtcttcatatcctatgaaaag	4	6	3	2			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:85211373C>T	ENST00000357749.2	-	8	980	c.951G>A	c.(949-951)gaG>gaA	p.E317E	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Silent_p.E169E	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	317					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				AAAATGTGATCTCTTCATATC	0.328																																						ENST00000357749.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(949-951)gaG>gaA		choroideremia (Rab escort protein 1)							46	40	42					X																	85211373		2203	4300	6503	SO:0001819	synonymous_variant	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85211373C>T	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.951G>A	X.37:g.85211373C>T			Somatic				CHM_ENST00000537751.1_Silent_p.E169E|CHM_ENST00000467744.1_Intron	p.E317E	NM_000390.2	NP_000381.1	WXS	Illumina GAIIx	Phase_I	P24386	RAE1_HUMAN			8	980	-		all_lung(315;5.41e-06)	317					A1L4D2|O43732	Silent	SNP	ENST00000357749.2	37	c.951G>A	CCDS14454.1																																																																																				0.328	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		6	21	0	0	0	1	0	6	21					T	85211373	C	T	85211373	2	4	10	1	0	0	0	0	0	0	0	1	3352	912	32	3		3	CHM	23	85211373	Silent	SNP	C	TCGA-N5-A4RT-01A-11D-A28R-08	14854504	85211373	70059187	117	725										
MAMLD1	10046	broad.mit.edu	37	chrX	149639635	149639635	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.104347826086957	12	0.662027851674659	1.52322580645161	1.87380952380952	1.34365853658537	0.703567101897967	1	0	cactgccaccttgcagctgcAgcagcagcagcagcaacagc	10	16	0	0			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1789-1791)cAg>cTg		mastermind-like domain containing 1							67	59	62					X																	149639635		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639635A>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.1790A>T	X.37:g.149639635A>T	ENSP00000359428:p.Gln597Leu		Somatic				MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L	p.Q597L			WXS	Illumina GAIIx	Phase_I	Q13495	MAMD1_HUMAN			4	2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		597			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1790A>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717048	0.30413	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68181	0.18;-0.31;0.18;0.17;0.83	3.95	-2.22	0.06952	.	0.914301	0.09376	N	0.810639	T	0.65565	0.2703	L	0.44542	1.39	0.26213	N	0.979273	P;P;P;P	0.51351	0.835;0.835;0.944;0.835	P;P;P;P	0.49999	0.529;0.529;0.628;0.529	T	0.63198	-0.6691	10	0.66056	D	0.02	-0.2357	12.9577	0.58441	0.4497:0.5503:0.0:0.0	.	469;572;572;597	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	469;597;572;597;572;78	ENSP00000359428:Q597L;ENSP00000414517:Q572L;ENSP00000262858:Q597L;ENSP00000397438:Q572L;ENSP00000389106:Q78L	ENSP00000262858:Q597L	Q	+	2	0	MAMLD1	149390293	0.130000	0.22417	0.006000	0.13384	0.394000	0.30568	0.878000	0.28126	-0.614000	0.05687	-0.496000	0.04628	CAG		0.607	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		5	102	0	0	0	1	0	5	102					T	149639635	A	T	149639635	3	4	10	1	0	0	0	0	1	0	0	0	9217	188	7	4	1800	4	MAMLD1	23	149639635	Missense_Mutation	SNP	A	TCGA-N5-A4RT-01A-11D-A28R-08	64428262	149639635	5630925	118	726										
AJAP1	55966	broad.mit.edu	37	chr1	4772161	4772161	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	ccagcgcgggtcccggccccGgtgtggagcccccggccgcc	16	20	0	0			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:4772161G>T	ENST00000378191.4	+	2	612	c.231G>T	c.(229-231)ccG>ccT	p.P77P	AJAP1_ENST00000378190.3_Silent_p.P77P|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	77					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)		TCCCGGCCCCGGTGTGGAGCC	0.776																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(229-231)ccG>ccT		adherens junctions associated protein 1							7	9	8					1																	4772161		1591	3455	5046	SO:0001819	synonymous_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772161G>T	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.231G>T	1.37:g.4772161G>T			Somatic				AJAP1_ENST00000378190.3_Silent_p.P77P|AJAP1_ENST00000466761.1_3'UTR	p.P77P	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	612	+	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)	77					Q9Y229	Silent	SNP	ENST00000378191.4	37	c.231G>T	CCDS54.1																																																																																				0.776	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		5	30	1	0	1	1	1	5	30					T	4772161	G	T	4772161	2	4	11	1	0	0	0	0	0	0	0	1	438	1103	39	5		5	AJAP1	1	4772161	Silent	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08		4772161	244478460	1	727										
FCRL1	115350	broad.mit.edu	37	chr1	157771352	157771352	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	ctgaggtaagatgattgcttCtggccccagtaggcactaga	12	9	1	4			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:157771352C>T	ENST00000368176.3	-	6	969	c.902G>A	c.(901-903)aGa>aAa	p.R301K	FCRL1_ENST00000491942.1_Missense_Mutation_p.R301K|FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000489998.1_Intron	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	301						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)			ATGATTGCTTCTGGCCCCAGT	0.532																																					GBM(54;482 1003 11223 30131 35730)	ENST00000368176.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(901-903)aGa>aAa		Fc receptor-like 1							72	73	73					1																	157771352		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157771352C>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.902G>A	1.37:g.157771352C>T	ENSP00000357158:p.Arg301Lys		Somatic				FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000491942.1_Missense_Mutation_p.R301K	p.R301K	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	WXS	Illumina GAIIx	Phase_I	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		6	969	-	all_hematologic(112;0.0378)		301					B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.902G>A	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670297	0.47677	.	.	ENSG00000163534	ENST00000368176;ENST00000491942	T;T	0.39406	1.08;1.1	5.03	-0.158	0.13383	.	1.577880	0.03547	N	0.224827	T	0.20780	0.0500	L	0.48218	1.51	0.09310	N	1	D;B	0.57899	0.981;0.005	P;B	0.54759	0.76;0.007	T	0.21965	-1.0230	10	0.06099	T	0.92	.	4.2557	0.10715	0.0:0.3951:0.3288:0.2761	.	301;301	Q96LA6-2;Q96LA6	.;FCRL1_HUMAN	K	301	ENSP00000357158:R301K;ENSP00000418130:R301K	ENSP00000357158:R301K	R	-	2	0	FCRL1	156037976	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	0.012000	0.13287	0.093000	0.17368	-0.878000	0.02970	AGA		0.532	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		12	52	0	0	0	1	0	12	52					T	157771352	C	T	157771352	3	4	11	1	0	0	0	0	1	0	0	0	5802	913	32	3	477	3	FCRL1	1	157771352	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	152999191	157771352	91479269	2	728										
PNPT1	87178	broad.mit.edu	37	chr2	55872564	55872564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	tctgtaatatctccttttttGccactagaagagaaaaacac	5	9	2	2			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:55872564G>A	ENST00000447944.2	-	22	1828	c.1742C>T	c.(1741-1743)gCa>gTa	p.A581V		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	581					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTCCTTTTTTGCCACTAGAAG	0.294																																						ENST00000447944.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27						c.(1741-1743)gCa>gTa		polyribonucleotide nucleotidyltransferase 1							72	71	72					2																	55872564		2203	4299	6502	SO:0001583	missense	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55872564G>A	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"polynucleotide phosphorylase", "3'-5' RNA exonuclease"	610316	"deafness, autosomal recessive 70"	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1742C>T	2.37:g.55872564G>A	ENSP00000400646:p.Ala581Val		Somatic					p.A581V	NM_033109.3	NP_149100.2	WXS	Illumina GAIIx	Phase_I	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		22	1828	-			581					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	c.1742C>T	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	G	33	5.267842	0.95399	.	.	ENSG00000138035	ENST00000447944	T	0.47177	0.85	5.66	5.66	0.87406	Exoribonuclease, phosphorolytic domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.78362	0.4271	H	0.94886	3.595	0.80722	D	1	D	0.56287	0.975	D	0.67548	0.952	D	0.84064	0.0376	10	0.87932	D	0	-12.9553	19.7393	0.96219	0.0:0.0:1.0:0.0	.	581	Q8TCS8	PNPT1_HUMAN	V	581	ENSP00000400646:A581V	ENSP00000393953:A581V	A	-	2	0	PNPT1	55726068	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.361000	0.97122	2.670000	0.90874	0.650000	0.86243	GCA		0.294	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		8	21	0	0	0	1	0	8	21					A	55872564	G	A	55872564	3	1	11	1	0	0	0	0	1	0	0	0	12182	1319	46	3	637	3	PNPT1	2	55872564	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08		55872564	187326809	3	729										
UXS1	80146	broad.mit.edu	37	chr2	106761661	106761661	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	ctcaccctcgatgtagagggGctccaccacgtcgtggttaa	11	13	1	1			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:106761661G>C	ENST00000409501.3	-	6	499	c.442C>G	c.(442-444)Ccc>Gcc	p.P148A	UXS1_ENST00000479621.1_5'UTR|UXS1_ENST00000283148.7_Missense_Mutation_p.P153A|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000540130.1_Missense_Mutation_p.P91A			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	148					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						ATGTAGAGGGGCTCCACCACG	0.527																																						ENST00000283148.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(457-459)Ccc>Gcc		UDP-glucuronate decarboxylase 1							82	81	82					2																	106761661		1958	4135	6093	SO:0001583	missense	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106761661G>C	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	17729	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 6E, member 12"	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.442C>G	2.37:g.106761661G>C	ENSP00000387019:p.Pro148Ala		Somatic				UXS1_ENST00000409501.3_Missense_Mutation_p.P148A|UXS1_ENST00000540130.1_Missense_Mutation_p.P91A|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000479621.1_5'UTR	p.P153A	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	WXS	Illumina GAIIx	Phase_I	Q8NBZ7	UXS1_HUMAN			6	554	-			148					Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.457C>G	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783258	0.90282	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000457835	D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04	5.84	5.84	0.93424	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93377	0.7888	L	0.52905	1.665	0.80722	D	1	P;P	0.43788	0.781;0.817	P;P	0.49528	0.479;0.614	D	0.93404	0.6763	10	0.72032	D	0.01	-5.7279	20.1381	0.98040	0.0:0.0:1.0:0.0	.	153;148	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	A	153;91;148;91	ENSP00000283148:P153A;ENSP00000438265:P91A;ENSP00000387019:P148A;ENSP00000399316:P91A	ENSP00000283148:P153A	P	-	1	0	UXS1	106128093	1.000000	0.71417	0.999000	0.59377	0.878000	0.50629	9.434000	0.97515	2.763000	0.94921	0.650000	0.86243	CCC		0.527	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		16	48	0	0	0	1	0	16	48					C	106761661	G	C	106761661	3	2	11	1	0	0	0	0	1	0	0	0	17124	1203	42	5	860	5	UXS1	2	106761661	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08	50889097	106761661	136437712	4	730										
BCL2L11	10018	broad.mit.edu	37	chr2	111921771	111921772	+	Frame_Shift_Ins	INS	-	-	A													0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	atggttatcttacgactgttINSacgttacattgtccgcctgg							TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:111921771_111921772insA	ENST00000393256.3	+	4	833_834	c.560_561insA	c.(559-564)ttacgtfs	p.R188fs	BCL2L11_ENST00000308659.8_Frame_Shift_Ins_p.R128fs	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)	188					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						TTACGACTGTTACGTTACATTG	0.436																																						ENST00000393256.3																			0				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						c.(559-561)tcgfs		BCL2-like 11 (apoptosis facilitator)																																				SO:0001589	frameshift_variant	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.chr2:111921771_111921772insA	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.561dupA	2.37:g.111921772_111921772dupA	ENSP00000376943:p.Arg188fs		Somatic				BCL2L11_ENST00000308659.8_Frame_Shift_Ins_p.S127fs	p.S187fs	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			4	833_834	+			187					A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Frame_Shift_Ins	INS	ENST00000393256.3	37	c.560_561insA	CCDS2089.1																																																																																				0.436	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254022.3			25	44						25	44	---	---	---	---	A	111921772	-	A	111921771	7	5	11	1	0	1	1	0	0	0	0	0	1369	1764	61	0	699	0	BCL2L11	2	111921771	Frame_Shift_Ins	INS	-	TCGA-N5-A4RU-01A-31D-A28R-08	5160110	111921771	131277602	5	731										
GALNT3	2591	broad.mit.edu	37	chr2	166615897	166615897	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	gcttctcatgatcaggaagcGactcccagccaaatgaaaga	9	11	2	3			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:166615897G>C	ENST00000392701.3	-	5	1797	c.1022C>G	c.(1021-1023)tCg>tGg	p.S341W	GALNT3_ENST00000409882.1_Missense_Mutation_p.S79W	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	341					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						ATCAGGAAGCGACTCCCAGCC	0.388																																						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.(1021-1023)tCg>tGg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)							94	89	91					2																	166615897		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.chr2:166615897G>C		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.1022C>G	2.37:g.166615897G>C	ENSP00000376465:p.Ser341Trp		Somatic				GALNT3_ENST00000409882.1_Missense_Mutation_p.S79W	p.S341W	NM_004482.3	NP_004473.2	WXS	Illumina GAIIx	Phase_I	Q14435	GALT3_HUMAN			5	1797	-			341					Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.1022C>G	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466292	0.84425	.	.	ENSG00000115339	ENST00000392701;ENST00000409882;ENST00000412248	T;T;T	0.59502	0.26;0.26;0.26	5.56	5.56	0.83823	Glycosyl transferase, family 2 (1);	0.263016	0.39341	N	0.001387	T	0.58352	0.2116	L	0.49350	1.555	0.80722	D	1	B	0.18461	0.028	B	0.26416	0.069	T	0.56335	-0.7996	10	0.66056	D	0.02	.	19.5324	0.95234	0.0:0.0:1.0:0.0	.	341	Q14435	GALT3_HUMAN	W	341;79;341	ENSP00000376465:S341W;ENSP00000386955:S79W;ENSP00000412643:S341W	ENSP00000376465:S341W	S	-	2	0	GALNT3	166324143	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	3.274000	0.51631	2.609000	0.88269	0.563000	0.77884	TCG		0.388	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		4	26	0	0	0	1	0	4	26					C	166615897	G	C	166615897	3	2	11	1	0	0	0	0	1	0	0	0	6222	1059	37	2	907	2	GALNT3	2	166615897	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08	54694126	166615897	76583476	6	732										
TTN	7273	broad.mit.edu	37	chr2	179635252	179635252	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	agtaaattgttcctttgacaGagatagcatacttttcattg	7	6	1	2			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:179635252G>C	ENST00000591111.1	-	35	8491	c.8267C>G	c.(8266-8268)tCt>tGt	p.S2756C	TTN_ENST00000342992.6_Missense_Mutation_p.S2756C|TTN_ENST00000460472.2_Missense_Mutation_p.S2710C|TTN_ENST00000359218.5_Missense_Mutation_p.S2710C|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S2756C|TTN_ENST00000342175.6_Missense_Mutation_p.S2710C|TTN_ENST00000589042.1_Missense_Mutation_p.S2756C|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13082					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)			TCCTTTGACAGAGATAGCATA	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(8266-8268)tCt>tGt		titin							176	171	172					2																	179635252		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179635252G>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.8267C>G	2.37:g.179635252G>C	ENSP00000465570:p.Ser2756Cys		Somatic				TTN_ENST00000460472.2_Missense_Mutation_p.S2710C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S2756C|TTN_ENST00000359218.5_Missense_Mutation_p.S2710C|TTN_ENST00000342992.6_Missense_Mutation_p.S2756C|TTN_ENST00000360870.5_Missense_Mutation_p.S2756C|TTN_ENST00000342175.6_Missense_Mutation_p.S2710C	p.S2756C	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	8491	-			2494					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.8267C>G		.	.	.	.	.	.	.	.	.	.	G	8.792	0.930740	0.18131	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	6.06	6.06	0.98353	Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82797	0.5115	M	0.84585	2.705	0.22858	N	0.998646	D;D;D;D;D	0.76494	0.993;0.993;0.993;0.993;0.999	P;P;P;P;D	0.63192	0.87;0.87;0.87;0.87;0.912	T	0.77005	-0.2748	9	0.87932	D	0	.	16.151	0.81622	0.0:0.0:0.866:0.134	.	2710;2710;2710;2756;2756	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	2756;2710;2710;2710;2710;2756	ENSP00000343764:S2756C;ENSP00000434586:S2710C;ENSP00000340554:S2710C;ENSP00000352154:S2710C;ENSP00000354117:S2756C	ENSP00000340554:S2710C	S	-	2	0	TTN	179343497	1.000000	0.71417	0.997000	0.53966	0.569000	0.35902	3.213000	0.51153	2.871000	0.98454	0.655000	0.94253	TCT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	61	0	0	0	1	0	10	61					C	179635252	G	C	179635252	3	2	11	1	0	0	0	0	1	0	0	0	16750	942	33	2	103033	2	TTN	2	179635252	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08	13019355	179635252	63564121	7	733										
ALS2CR11	151254	broad.mit.edu	37	chr2	202483678	202483678	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	tgttcttaggcagggccgtcGtgccctggttcagggcgtaa	15	10	2	0			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:202483678G>T	ENST00000286195.3	-	1	220	c.176C>A	c.(175-177)aCg>aAg	p.T59K	ALS2CR11_ENST00000439140.1_Missense_Mutation_p.T59K|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.T59K|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.T59K	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	59										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CAGGGCCGTCGTGCCCTGGTT	0.647																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(175-177)aCg>aAg		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							57	56	56					2																	202483678		2203	4300	6503	SO:0001583	missense	151254							g.chr2:202483678G>T	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.176C>A	2.37:g.202483678G>T	ENSP00000286195:p.Thr59Lys		Somatic				ALS2CR11_ENST00000286195.3_Missense_Mutation_p.T59K|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.T59K|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.T59K	p.T59K	NM_001168221.1	NP_001161693.1	WXS	Illumina GAIIx	Phase_I	Q53TS8	AL2SA_HUMAN			1	220	-			59					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	c.176C>A	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	G	2.857	-0.237062	0.05944	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.43294	0.97;0.95;0.96;0.97	3.54	-4.86	0.03132	.	4.171690	0.00853	N	0.001841	T	0.16642	0.0400	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.04013	0.001;0.0;0.001	T	0.35101	-0.9802	10	0.02654	T	1	.	6.4943	0.22133	0.0:0.445:0.3316:0.2234	.	59;59;59	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	K	59	ENSP00000286195:T59K;ENSP00000400672:T59K;ENSP00000409937:T59K;ENSP00000399016:T59K	ENSP00000286195:T59K	T	-	2	0	ALS2CR11	202191923	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.487000	0.06505	-1.076000	0.03125	-1.350000	0.01237	ACG		0.647	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		13	37	1	0	4.3838e-07	1	4.97744e-07	13	37					T	202483678	G	T	202483678	3	4	11	1	0	0	0	0	1	0	0	0	552	1145	40	5	5497	5	ALS2CR11	2	202483678	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08	22848426	202483678	40715695	8	734										
SNED1	25992	broad.mit.edu	37	chr2	242021733	242021733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	cctgcacaaggctgttctccGagacaaaggcctttccagtc	9	14	1	1	rs572761965	byFrequency	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:242021733G>A	ENST00000310397.8	+	29	4075	c.4075G>A	c.(4075-4077)Gag>Aag	p.E1359K	MTERFD2_ENST00000464344.2_Intron|SNED1_ENST00000405547.3_Missense_Mutation_p.E1326K|SNED1_ENST00000342631.6_Missense_Mutation_p.E1326K	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1359					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|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;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCTGTTCTCCGAGACAAAGGC	0.582													G|||	3	0.000599042	0.0023	0	5008	,	,		18593	0		0	False		,,,				2504	0					ENST00000310397.8																			0				NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24						c.(4075-4077)Gag>Aag		sushi, nidogen and EGF-like domains 1							196	211	206					2																	242021733		2030	4189	6219	SO:0001583	missense	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:242021733G>A	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.4075G>A	2.37:g.242021733G>A	ENSP00000308893:p.Glu1359Lys		Somatic				SNED1_ENST00000405547.3_Missense_Mutation_p.E1326K|SNED1_ENST00000342631.6_Missense_Mutation_p.E1326K	p.E1359K	NM_001080437.1	NP_001073906.1	WXS	Illumina GAIIx	Phase_I	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	29	4075	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|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)	1359					B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	c.4075G>A	CCDS46562.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148212	0.78001	.	.	ENSG00000162804	ENST00000405547;ENST00000310397;ENST00000342631	D;D;D	0.89939	-2.11;-1.86;-2.59	4.48	4.48	0.54585	.	0.000000	0.43579	D	0.000559	D	0.91938	0.7447	L	0.47190	1.495	0.39625	D	0.970089	D;D	0.89917	0.999;1.0	D;D	0.87578	0.97;0.998	D	0.93159	0.6556	10	0.72032	D	0.01	.	13.8813	0.63684	0.0:0.0:1.0:0.0	.	1326;1359	B5MEF5;Q8TER0	.;SNED1_HUMAN	K	1326;1359;1326	ENSP00000386007:E1326K;ENSP00000308893:E1359K;ENSP00000342992:E1326K	ENSP00000308893:E1359K	E	+	1	0	SNED1	241670406	1.000000	0.71417	0.951000	0.38953	0.716000	0.41182	6.756000	0.74919	2.049000	0.60858	0.462000	0.41574	GAG		0.582	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		37	63	0	0	0	1	0	37	63					A	242021733	G	A	242021733	3	1	11	1	0	0	0	0	1	0	0	0	14860	1059	37	1	4189	1	SNED1	2	242021733	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08	39538055	242021733	1177640	9	735										
CACNA2D3	55799	broad.mit.edu	37	chr3	55038789	55038789	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	ccttccatttctttcctgtaGaattaccctttatgactacc	3	13	1	2			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr3:55038789G>C	ENST00000474759.1	+	32	2738		c.e32-1		CACNA2D3_ENST00000288197.5_Splice_Site|CACNA2D3_ENST00000415676.2_Splice_Site|CACNA2D3_ENST00000478261.1_Splice_Site|CACNA2D3_ENST00000490478.1_Splice_Site	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3							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)	CTTTCCTGTAGAATTACCCTT	0.453																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.e32-1		calcium channel, voltage-dependent, alpha 2/delta subunit 3							135	127	130					3																	55038789		1921	4146	6067	SO:0001630	splice_region_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:55038789G>C	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.2691-1G>C	3.37:g.55038789G>C			Somatic				CACNA2D3_ENST00000415676.2_Splice_Site|CACNA2D3_ENST00000288197.5_Splice_Site|CACNA2D3_ENST00000478261.1_Splice_Site|CACNA2D3_ENST00000490478.1_Splice_Site		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)	32	2738	+								B2RPL6|Q9NY16|Q9NY18	Splice_Site	SNP	ENST00000474759.1	37		CCDS54598.1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.710989	0.89112	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7754	0.91910	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA2D3	55013829	1.000000	0.71417	0.285000	0.24819	0.755000	0.42902	7.486000	0.81215	2.873000	0.98535	0.563000	0.77884	.		0.453	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		Intron	11	39	0	0	0	1	0	11	39					C	55038789	G	C	55038789	5	2	11	1	0	0	0	0	0	0	1	0	2552	956	33	2	2816	2	CACNA2D3	3	55038789	Splice_Site	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08		55038789	142983641	10	736										
CCDC37	348807	broad.mit.edu	37	chr3	126132950	126132950	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	catggtcctgacccttcagcGaaccctttccacttatctgg	7	15	2	1			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr3:126132950G>A	ENST00000352312.1	+	4	252	c.153G>A	c.(151-153)gcG>gcA	p.A51A	CCDC37_ENST00000393425.1_Silent_p.A51A|CCDC37_ENST00000505024.1_Silent_p.A51A|CCDC37_ENST00000510833.1_Silent_p.A51A	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	51										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACCCTTCAGCGAACCCTTTCC	0.572																																						ENST00000393425.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.(151-153)gcG>gcA		coiled-coil domain containing 37							274	275	275					3																	126132950		2203	4300	6503	SO:0001819	synonymous_variant	348807							g.chr3:126132950G>A	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.153G>A	3.37:g.126132950G>A			Somatic				CCDC37_ENST00000510833.1_Silent_p.A51A|CCDC37_ENST00000505024.1_Silent_p.A51A|CCDC37_ENST00000352312.1_Silent_p.A51A	p.A51A			WXS	Illumina GAIIx	Phase_I	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	4	252	+			51					D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	c.153G>A	CCDS3037.1																																																																																				0.572	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		61	119	0	0	0	1	0	61	119					A	126132950	G	A	126132950	2	1	11	1	0	0	0	0	0	0	0	1	2811	1045	37	1		1	CCDC37	3	126132950	Silent	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08	71094161	126132950	71889480	11	737										
KCNAB1	7881	broad.mit.edu	37	chr3	156181519	156181519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	gtctggtcataacaaccaaaCtctactggggtggaaagtaa	10	8	3	0			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr3:156181519C>T	ENST00000490337.1	+	6	575	c.511C>T	c.(511-513)Ctc>Ttc	p.L171F	KCNAB1_ENST00000302490.8_Missense_Mutation_p.L153F|KCNAB1_ENST00000471742.1_Missense_Mutation_p.L160F|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Missense_Mutation_p.L171F|KCNAB1_ENST00000389634.5_Missense_Mutation_p.L153F	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	171					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)			AACAACCAAACTCTACTGGGG	0.338																																						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.(457-459)Ctc>Ttc		potassium voltage-gated channel, shaker-related subfamily, beta member 1							124	126	125					3																	156181519		2203	4300	6503	SO:0001583	missense	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156181519C>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.511C>T	3.37:g.156181519C>T	ENSP00000419952:p.Leu171Phe		Somatic				KCNAB1_ENST00000389634.5_Missense_Mutation_p.L153F|KCNAB1_ENST00000389636.5_Missense_Mutation_p.L171F|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000490337.1_Missense_Mutation_p.L171F|KCNAB1_ENST00000471742.1_Missense_Mutation_p.L160F	p.L153F	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)		6	1328	+			171					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	c.457C>T	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720610	0.68959	.	.	ENSG00000169282	ENST00000472028;ENST00000490337;ENST00000389636;ENST00000471742;ENST00000475456;ENST00000302490;ENST00000389634	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73	5.85	5.85	0.93711	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	N	0.20610	0.595	0.58432	D	0.999998	P;P;P;P;P	0.48764	0.915;0.896;0.915;0.896;0.915	P;P;P;P;P	0.57468	0.821;0.66;0.77;0.66;0.821	T	0.02226	-1.1192	10	0.45353	T	0.12	-10.2769	15.6737	0.77297	0.0:1.0:0.0:0.0	.	171;153;153;160;171	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	F	89;171;171;160;114;153;153	ENSP00000420755:L89F;ENSP00000419952:L171F;ENSP00000374287:L171F;ENSP00000418956:L160F;ENSP00000420221:L114F;ENSP00000305858:L153F;ENSP00000374285:L153F	ENSP00000305858:L153F	L	+	1	0	KCNAB1	157664213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.358000	0.52284	2.767000	0.95098	0.557000	0.71058	CTC		0.338	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		8	29	0	0	0	1	0	8	29					T	156181519	C	T	156181519	3	4	11	1	0	0	0	0	1	0	0	0	8018	565	20	3	1004	3	KCNAB1	3	156181519	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	30048569	156181519	41840911	12	738										
KDR	3791	broad.mit.edu	37	chr4	55981195	55981195	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	ttaccatcaggaacaaatctCttttctgggtatctctgggt	8	9	4	0			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:55981195C>A	ENST00000263923.4	-	5	799	c.504G>T	c.(502-504)aaG>aaT	p.K168N		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	168	Ig-like C2-type 2.				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)	GAACAAATCTCTTTTCTGGGT	0.383			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.(502-504)aaG>aaT		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						46	46	46					4																	55981195		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.chr4:55981195C>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.504G>T	4.37:g.55981195C>A	ENSP00000263923:p.Lys168Asn	TSP Lung(20;0.16)	Somatic					p.K168N	NM_002253.2	NP_002244.1	WXS	Illumina GAIIx	Phase_I	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		5	799	-	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)		168			Ig-like C2-type 2.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.504G>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690348	0.48097	.	.	ENSG00000128052	ENST00000263923	T	0.33438	1.41	5.75	3.07	0.35406	Immunoglobulin-like fold (1);	0.047716	0.85682	D	0.000000	T	0.41650	0.1168	M	0.70595	2.14	0.49582	D	0.999806	D;D	0.63046	0.992;0.983	P;P	0.57283	0.817;0.511	T	0.24905	-1.0147	10	0.32370	T	0.25	.	6.1975	0.20557	0.0:0.612:0.1338:0.2542	.	168;168	P35968-2;P35968	.;VGFR2_HUMAN	N	168	ENSP00000263923:K168N	ENSP00000263923:K168N	K	-	3	2	KDR	55675952	0.934000	0.31675	1.000000	0.80357	0.751000	0.42716	0.263000	0.18478	1.434000	0.47414	0.655000	0.94253	AAG		0.383	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			3	14	1	0	1	1	1	3	14					A	55981195	C	A	55981195	3	1	11	1	0	0	0	0	1	0	0	0	8148	912	32	2	3670	2	KDR	4	55981195	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08		55981195	135173081	13	739										
FRAS1	80144	broad.mit.edu	37	chr4	79362391	79362391	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	atgatgacaacctccagagaGatgccatcattaaactaagt	7	9	1	4			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:79362391G>C	ENST00000325942.6	+	41	6045	c.5605G>C	c.(5605-5607)Gat>Cat	p.D1869H	FRAS1_ENST00000264895.6_Missense_Mutation_p.D1869H	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1869					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						CCTCCAGAGAGATGCCATCAT	0.423																																						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.(5605-5607)Gat>Cat		Fraser syndrome 1							92	85	87					4																	79362391		1906	4119	6025	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79362391G>C	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.5605G>C	4.37:g.79362391G>C	ENSP00000326330:p.Asp1869His		Somatic				FRAS1_ENST00000325942.6_Missense_Mutation_p.D1869H	p.D1869H	NM_025074.6	NP_079350.5	WXS	Illumina GAIIx	Phase_I	Q86XX4	FRAS1_HUMAN			41	6045	+			1868					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.5605G>C	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.001205|4.001205	0.74818|0.74818	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895|ENST00000510944;ENST00000512123	T;T|T;T	0.35421|0.28895	1.31;1.31|1.59;1.59	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.101725|.	0.64402|.	D|.	0.000004|.	T|T	0.49626|0.49626	0.1568|0.1568	M|M	0.81112|0.81112	2.525|2.525	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.953|.	T|T	0.34030|0.34030	-0.9845|-0.9845	10|7	0.87932|0.15952	D|T	0|0.53	.|.	15.3963|15.3963	0.74798|0.74798	0.0:0.0:0.8608:0.1392|0.0:0.0:0.8608:0.1392	.|.	1869;1869|.	E9PHH6;A2RRR8|.	.;.|.	H|T	1869|318;97	ENSP00000326330:D1869H;ENSP00000264895:D1869H|ENSP00000422221:R318T;ENSP00000422834:R97T	ENSP00000264895:D1869H|ENSP00000422221:R318T	D|R	+|+	1|2	0|0	FRAS1|FRAS1	79581415|79581415	1.000000|1.000000	0.71417|0.71417	0.926000|0.926000	0.36857|0.36857	0.969000|0.969000	0.65631|0.65631	4.656000|4.656000	0.61483|0.61483	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GAT|AGA		0.423	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			5	10	0	0	0	1	0	5	10					C	79362391	G	C	79362391	3	2	11	1	0	0	0	0	1	0	0	0	6050	942	33	2	5767	2	FRAS1	4	79362391	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08	23381196	79362391	111791885	14	740										
NPNT	255743	broad.mit.edu	37	chr4	106863781	106863781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	tgacaactatagcaccagctGccagtacacctccaggaggg	10	13	0	1			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:106863781G>T	ENST00000379987.2	+	8	1297	c.1081G>T	c.(1081-1083)Gcc>Tcc	p.A361S	NPNT_ENST00000427316.2_Missense_Mutation_p.A391S|NPNT_ENST00000453617.2_Missense_Mutation_p.A378S|NPNT_ENST00000305572.8_Missense_Mutation_p.A361S|NPNT_ENST00000506666.1_Missense_Mutation_p.A391S|NPNT_ENST00000514622.1_Missense_Mutation_p.A361S	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	361	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AGCACCAGCTGCCAGTACACC	0.517																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(1081-1083)Gcc>Tcc		nephronectin							108	102	104					4																	106863781		2203	4300	6503	SO:0001583	missense	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863781G>T		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.1081G>T	4.37:g.106863781G>T	ENSP00000369323:p.Ala361Ser		Somatic				NPNT_ENST00000305572.8_Missense_Mutation_p.A361S|NPNT_ENST00000506666.1_Missense_Mutation_p.A391S|NPNT_ENST00000453617.2_Missense_Mutation_p.A378S|NPNT_ENST00000514622.1_Missense_Mutation_p.A361S|NPNT_ENST00000427316.2_Missense_Mutation_p.A391S	p.A361S	NM_001033047.2	NP_001028219.1	WXS	Illumina GAIIx	Phase_I	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1297	+		Hepatocellular(203;0.217)	361			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	c.1081G>T	CCDS34046.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.282|0.282	-0.985616|-0.985616	0.02180|0.02180	.|.	.|.	ENSG00000168743|ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451|ENST00000514837	T;T;T;T;T;T;T|.	0.78924|.	-0.78;-1.14;-0.87;-1.22;-0.85;-0.89;-0.02|.	5.2|5.2	2.05|2.05	0.26809|0.26809	.|.	0.819483|.	0.11244|.	N|.	0.584320|.	T|T	0.21103|0.21103	0.0508|0.0508	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B|.	0.21381|.	0.008;0.044;0.044;0.044;0.055;0.013;0.044|.	B;B;B;B;B;B;B|.	0.21917|.	0.01;0.024;0.014;0.014;0.02;0.037;0.014|.	T|T	0.26292|0.26292	-1.0107|-1.0107	10|5	0.07030|.	T|.	0.85|.	.|.	8.0827|8.0827	0.30754|0.30754	0.3036:0.0:0.6964:0.0|0.3036:0.0:0.6964:0.0	.|.	361;391;391;378;408;361;361|.	E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9|.	.;.;.;.;.;.;NPNT_HUMAN|.	S|F	361;378;391;361;361;391;408|337	ENSP00000369323:A361S;ENSP00000402884:A378S;ENSP00000389252:A391S;ENSP00000422044:A361S;ENSP00000302557:A361S;ENSP00000422474:A391S;ENSP00000426146:A408S|.	ENSP00000302557:A361S|.	A|C	+|+	1|2	0|0	NPNT|NPNT	107083230|107083230	0.012000|0.012000	0.17670|0.17670	0.017000|0.017000	0.16124|0.16124	0.108000|0.108000	0.19459|0.19459	0.550000|0.550000	0.23345|0.23345	0.048000|0.048000	0.15891|0.15891	0.555000|0.555000	0.69702|0.69702	GCC|TGC		0.517	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		13	84	1	0	9.31168e-06	1	1.04636e-05	13	84					T	106863781	G	T	106863781	3	4	11	1	0	0	0	0	1	0	0	0	10599	1319	46	5	1260	5	NPNT	4	106863781	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08	27501390	106863781	84290495	15	741										
NAA15	80155	broad.mit.edu	37	chr4	140272382	140272382	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	ctaaaaatttatgaggaagcCtggactaaatatcccagggg	10	7	0	1			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:140272382C>T	ENST00000296543.5	+	8	1172	c.849C>T	c.(847-849)gcC>gcT	p.A283A	NAA15_ENST00000398947.1_Silent_p.A283A|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	283					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						ATGAGGAAGCCTGGACTAAAT	0.318																																						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.(847-849)gcC>gcT		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							36	36	36					4																	140272382		1785	4060	5845	SO:0001819	synonymous_variant	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140272382C>T	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.849C>T	4.37:g.140272382C>T			Somatic				NAA15_ENST00000398947.1_Silent_p.A283A|NAA15_ENST00000480277.2_3'UTR	p.A283A	NM_057175.3	NP_476516.1	WXS	Illumina GAIIx	Phase_I	Q9BXJ9	NAA15_HUMAN			8	1172	+			283					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Silent	SNP	ENST00000296543.5	37	c.849C>T	CCDS43270.1																																																																																				0.318	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		14	6	0	0	0	1	0	14	6					T	140272382	C	T	140272382	2	4	11	1	0	0	0	0	0	0	0	1	10127	668	24	3		3	NAA15	4	140272382	Silent	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	33408601	140272382	50881894	16	742										
KLKB1	3818	broad.mit.edu	37	chr4	187179284	187179284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	ggagcaacctggtgtctacaCcaaagtcgctgagtacatgg	12	10	1	1			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:187179284C>A	ENST00000264690.6	+	15	2022	c.1835C>A	c.(1834-1836)aCc>aAc	p.T612N	KLKB1_ENST00000513864.1_3'UTR	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	612	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)		GGTGTCTACACCAAAGTCGCT	0.517																																						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.(1834-1836)aCc>aAc		kallikrein B, plasma (Fletcher factor) 1							88	81	83					4																	187179284		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187179284C>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.1835C>A	4.37:g.187179284C>A	ENSP00000264690:p.Thr612Asn		Somatic				KLKB1_ENST00000513864.1_3'UTR	p.T612N	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)	15	2022	+		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)	612			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1835C>A	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.682291|4.682291	0.88542|0.88542	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690	.|D	.|0.95238	.|-3.65	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|0.069765	.|0.64402	.|D	.|0.000014	D|D	0.98251|0.98251	0.9421|0.9421	H|H	0.94542|0.94542	3.55|3.55	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	0.98650|0.98650	1.0679|1.0679	5|10	.|0.87932	.|D	.|0	.|.	20.3437|20.3437	0.98782|0.98782	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|612;612	.|A8K9A9;P03952	.|.;KLKB1_HUMAN	T|N	660|612	.|ENSP00000264690:T612N	.|ENSP00000264690:T612N	P|T	+|+	1|2	0|0	KLKB1|KLKB1	187416278|187416278	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.995000|5.995000	0.70631|0.70631	2.802000|2.802000	0.96397|0.96397	0.563000|0.563000	0.77884|0.77884	CCA|ACC		0.517	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		24	37	1	0	2.39556e-15	1	2.83822e-15	24	37					A	187179284	C	A	187179284	3	1	11	1	0	0	0	0	1	0	0	0	8421	507	18	5	1889	5	KLKB1	4	187179284	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	46906902	187179284	3974992	17	743										
RNASEN	29102	broad.mit.edu	37	chr5	31424571	31424571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	gataattgagccagacttcgCgcaggtcctggaaaatggag	13	8	0	2			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:31424571C>T	ENST00000511367.2	-	27	3468	c.3224G>A	c.(3223-3225)cGc>cAc	p.R1075H	DROSHA_ENST00000513349.1_Missense_Mutation_p.R1038H|DROSHA_ENST00000344624.3_Missense_Mutation_p.R1075H|DROSHA_ENST00000442743.1_Missense_Mutation_p.R1038H	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1075	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CCAGACTTCGCGCAGGTCCTG	0.423																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(3223-3225)cGc>cAc		drosha, ribonuclease type III							105	106	105					5																	31424571		1940	4145	6085	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31424571C>T	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3224G>A	5.37:g.31424571C>T	ENSP00000425979:p.Arg1075His		Somatic				DROSHA_ENST00000344624.3_Missense_Mutation_p.R1075H|DROSHA_ENST00000513349.1_Missense_Mutation_p.R1038H|DROSHA_ENST00000442743.1_Missense_Mutation_p.R1038H	p.R1075H	NM_013235.4	NP_037367.3	WXS	Illumina GAIIx	Phase_I	Q9NRR4	RNC_HUMAN			27	3468	-			1075			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.3224G>A	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950818	0.53186	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.46819	1.44;1.44;0.86;0.86	5.41	5.41	0.78517	Ribonuclease III (2);	0.056790	0.64402	D	0.000003	T	0.34193	0.0889	N	0.19112	0.55	0.58432	D	0.999999	B;B	0.17852	0.024;0.017	B;B	0.17433	0.008;0.018	T	0.12372	-1.0550	10	0.13470	T	0.59	-16.8708	17.7429	0.88412	0.0:1.0:0.0:0.0	.	1038;1075	E7EMP9;Q9NRR4	.;RNC_HUMAN	H	1075;1075;1038;1038;1000;1031	ENSP00000425979:R1075H;ENSP00000339845:R1075H;ENSP00000409335:R1038H;ENSP00000424161:R1038H	ENSP00000265075:R1000H	R	-	2	0	DROSHA	31460328	1.000000	0.71417	0.966000	0.40874	0.992000	0.81027	4.861000	0.62969	2.691000	0.91804	0.650000	0.86243	CGC		0.423	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		5	13	0	0	0	1	0	5	13					T	31424571	C	T	31424571	3	4	11	1	0	0	0	0	1	0	0	0	13432	768	27	1	936	1	RNASEN	5	31424571	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08		31424571	149490689	18	744										
ENC1	8507	broad.mit.edu	37	chr5	73932112	73932112	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	ggcctcaaagtagcgactgcAtgcagccagcactgcccggt	12	14	1	0			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:73932112A>G	ENST00000302351.4	-	2	1329	c.199T>C	c.(199-201)Tgc>Cgc	p.C67R	ENC1_ENST00000510316.1_5'UTR|ENC1_ENST00000537006.1_Missense_Mutation_p.C67R	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	67	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)		TAGCGACTGCATGCAGCCAGC	0.542																																						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.(199-201)Tgc>Cgc		ectodermal-neural cortex 1 (with BTB domain)							68	62	64					5																	73932112		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73932112A>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.199T>C	5.37:g.73932112A>G	ENSP00000306356:p.Cys67Arg		Somatic				ENC1_ENST00000537006.1_Missense_Mutation_p.C67R|ENC1_ENST00000510316.1_5'UTR	p.C67R	NM_003633.3	NP_003624.1	WXS	Illumina GAIIx	Phase_I	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	1329	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	67			BTB.		B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.199T>C	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231188	0.58777	.	.	ENSG00000171617	ENST00000302351;ENST00000537006	T;T	0.66280	-0.2;-0.2	5.78	5.78	0.91487	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.73009	0.3532	L	0.48877	1.53	0.80722	D	1	D	0.53885	0.963	D	0.63703	0.917	T	0.75505	-0.3294	10	0.87932	D	0	.	16.1053	0.81216	1.0:0.0:0.0:0.0	.	67	O14682	ENC1_HUMAN	R	67	ENSP00000306356:C67R;ENSP00000446289:C67R	ENSP00000306356:C67R	C	-	1	0	ENC1	73967868	1.000000	0.71417	0.927000	0.36925	0.923000	0.55619	9.339000	0.96797	2.211000	0.71520	0.459000	0.35465	TGC		0.542	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		19	8	0	0	0	1	0	19	8					G	73932112	A	G	73932112	3	3	11	1	0	0	0	0	1	0	0	0	5115	217	8	4	1574	4	ENC1	5	73932112	Missense_Mutation	SNP	A	TCGA-N5-A4RU-01A-31D-A28R-08	42507541	73932112	106983148	19	745										
RAPGEF6	51735	broad.mit.edu	37	chr5	130785715	130785715	+	Intron	DEL	C	C	-													0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	tgcgttcatctctacacttaCcccagactccgccacctctt							TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:130785715delC	ENST00000509018.1	-	21	3406				RAPGEF6_ENST00000507093.1_Splice_Site|RAPGEF6_ENST00000308008.6_Intron|RAPGEF6_ENST00000296859.6_Splice_Site|CTC-432M15.3_ENST00000514667.1_Intron|RAPGEF6_ENST00000307984.5_Splice_Site|RAPGEF6_ENST00000512052.1_Splice_Site	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6						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)		TCTACACTTACCCCAGACTCC	0.408																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000307984.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.e23+1		Rap guanine nucleotide exchange factor (GEF) 6							161	139	146					5																	130785715		692	1591	2283	SO:0001627	intron_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130785715delC	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.3200+3031G>-	5.37:g.130785715delC			Somatic				RAPGEF6_ENST00000509018.1_Intron|RAPGEF6_ENST00000296859.6_Splice_Site|RAPGEF6_ENST00000507093.1_Splice_Site|FNIP1_ENST00000514667.1_Intron|RAPGEF6_ENST00000308008.6_Intron|RAPGEF6_ENST00000512052.1_Splice_Site		NM_001164387.1	NP_001157859.1	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)	23	3445	-								A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Splice_Site	DEL	ENST00000509018.1	37		CCDS34225.1																																																																																				0.408	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		2	4						2	4	---	---	---	---	-	130785715	C	-	130785715	6	5	11	0	1	1	0	1	0	0	0	0	13063	521	18	0		0	RAPGEF6	5	130785715	Intron	DEL	C	TCGA-N5-A4RU-01A-31D-A28R-08	56853603	130785715	50129545	20	746										
GPX3	2878	broad.mit.edu	37	chr5	150405020	150405020	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	tacgtcctctttgtcaacgtGgccagctactgaggcctgac	10	13	2	2			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:150405020G>A	ENST00000388825.4	+	2	299	c.207G>A	c.(205-207)gtG>gtA	p.V69V	GPX3_ENST00000517973.1_Intron|GPX3_ENST00000521722.1_3'UTR	NM_002084.3	NP_002075.2	P22352	GPX3_HUMAN	glutathione peroxidase 3 (plasma)	69					hydrogen peroxide catabolic process (GO:0042744)|protein homotetramerization (GO:0051289)|response to lipid hydroperoxide (GO:0006982)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|selenium binding (GO:0008430)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	TTGTCAACGTGGCCAGCTACT	0.517																																						ENST00000388825.4																			0				kidney(1)|large_intestine(3)|lung(1)|skin(1)	6						c.(205-207)gtG>gtA		glutathione peroxidase 3 (plasma)	Glutathione(DB00143)						83	82	82					5																	150405020		1989	4178	6167	SO:0001819	synonymous_variant	2878				hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding	g.chr5:150405020G>A		CCDS43389.1	5q23	2012-03-01			ENSG00000211445	ENSG00000211445	1.11.1.9		4555	protein-coding gene	gene with protein product		138321				3619451, 8287691	Standard	NM_002084		Approved		uc021yga.1	P22352	OTTHUMG00000163693	ENST00000388825.4:c.207G>A	5.37:g.150405020G>A			Somatic				GPX3_ENST00000521722.1_3'UTR|GPX3_ENST00000517973.1_Intron	p.V69V	NM_002084.3	NP_002075.2	WXS	Illumina GAIIx	Phase_I	P22352	GPX3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	299	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	69					O43787|Q86W78|Q9NZ74|Q9UEL1	Silent	SNP	ENST00000388825.4	37	c.207G>A	CCDS43389.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391145	0.25118	.	.	ENSG00000211445	ENST00000521632	.	.	.	5.8	2.2	0.27929	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9544	0.19265	0.3071:0.0:0.5498:0.1431	.	.	.	.	X	39	.	.	W	+	2	0	GPX3	150385213	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	0.835000	0.27531	1.106000	0.41623	0.655000	0.94253	TGG		0.517	GPX3-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000374772.1			7	42	0	0	0	1	0	7	42					A	150405020	G	A	150405020	2	1	11	1	0	0	0	0	0	0	0	1	6750	1335	47	3		3	GPX3	5	150405020	Silent	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08	19619305	150405020	30510240	21	747										
GRM6	2916	broad.mit.edu	37	chr5	178413522	178413522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	agggggaggaccagctcaggCgcaccacaggtgtggggcgg	20	10	1	0	rs369887161		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:178413522C>T	ENST00000517717.1	-	9	1771	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.R578H			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	578					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCAGCTCAGGCGCACCACAGG	0.697													C|||	1	0.000199681	0	0	5008	,	,		12943	0		0	False		,,,				2504	0.001					ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1732-1734)cGc>cAc		glutamate receptor, metabotropic 6		C	HIS/ARG	1,4393		0,1,2196	15	17	17		1733	1.1	0	5		17	0,8588		0,0,4294	no	missense	GRM6	NM_000843.3	29	0,1,6490	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	578/878	178413522	1,12981	2197	4294	6491	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413522C>T	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1733G>A	5.37:g.178413522C>T	ENSP00000430767:p.Arg578His		Somatic				RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.R578H	p.R578H	NM_000843.3	NP_000834.2	WXS	Illumina GAIIx	Phase_I	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	1911	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	578						Missense_Mutation	SNP	ENST00000517717.1	37	c.1733G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471426	0.43942	2.28E-4	0.0	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.88277	-2.36;-2.36	4.97	1.08	0.20341	.	.	.	.	.	D	0.85431	0.5695	N	0.19112	0.55	0.30624	N	0.758217	D;B	0.76494	0.999;0.0	P;B	0.62435	0.902;0.002	T	0.78393	-0.2221	9	0.33141	T	0.24	.	4.4054	0.11407	0.0:0.4163:0.3296:0.2541	.	734;578	E7EX65;O15303	.;GRM6_HUMAN	H	734;578;578	ENSP00000231188:R578H;ENSP00000430767:R578H	ENSP00000231188:R578H	R	-	2	0	GRM6	178346128	1.000000	0.71417	0.017000	0.16124	0.916000	0.54674	2.546000	0.45778	0.219000	0.20840	0.462000	0.41574	CGC		0.697	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			21	6	0	0	0	1	0	21	6					T	178413522	C	T	178413522	3	4	11	1	0	0	0	0	1	0	0	0	6810	768	27	1	912	1	GRM6	5	178413522	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	28008502	178413522	2501738	22	748										
RREB1	6239	broad.mit.edu	37	chr6	7230164	7230164	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	cctgctgccgctgagcatggAggccaagatcaagcaggaga	14	11	1	3			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:7230164A>T	ENST00000349384.6	+	10	2146	c.1832A>T	c.(1831-1833)gAg>gTg	p.E611V	RREB1_ENST00000334984.6_Missense_Mutation_p.E611V|RREB1_ENST00000379938.2_Missense_Mutation_p.E611V|RREB1_ENST00000379933.3_Missense_Mutation_p.E611V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	611					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)				CTGAGCATGGAGGCCAAGATC	0.657																																						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.(1831-1833)gAg>gTg		ras responsive element binding protein 1							21	23	22					6																	7230164		2154	4239	6393	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.chr6:7230164A>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1832A>T	6.37:g.7230164A>T	ENSP00000305560:p.Glu611Val		Somatic				RREB1_ENST00000349384.6_Missense_Mutation_p.E611V|RREB1_ENST00000379933.3_Missense_Mutation_p.E611V|RREB1_ENST00000334984.6_Missense_Mutation_p.E611V	p.E611V	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	WXS	Illumina GAIIx	Phase_I	Q92766	RREB1_HUMAN			10	2369	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	611					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.1832A>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.012027	0.54468	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.12879	2.76;2.72;2.76;2.64;2.81	5.13	5.13	0.70059	.	0.194908	0.34555	N	0.003871	T	0.17152	0.0412	L	0.57536	1.79	0.38014	D	0.934633	P;P;B	0.52170	0.929;0.951;0.158	P;P;B	0.54210	0.745;0.677;0.066	T	0.00842	-1.1544	10	0.49607	T	0.09	-39.7771	15.1159	0.72401	1.0:0.0:0.0:0.0	.	611;611;611	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	611	ENSP00000369265:E611V;ENSP00000369270:E611V;ENSP00000305560:E611V;ENSP00000335574:E611V;ENSP00000419511:E611V	ENSP00000335574:E611V	E	+	2	0	RREB1	7175163	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.294000	0.59043	2.140000	0.66376	0.533000	0.62120	GAG		0.657	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			4	53	0	0	0	1	0	4	53					T	7230164	A	T	7230164	3	4	11	1	0	0	0	0	1	0	0	0	13694	304	11	4	1858	4	RREB1	6	7230164	Missense_Mutation	SNP	A	TCGA-N5-A4RU-01A-31D-A28R-08		7230164	163884903	23	749										
DSP	1832	broad.mit.edu	37	chr6	7585361	7585361	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	tcgagccccattgcagccatCtttgacacagaaaacctgga	8	13	1	2			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:7585361C>T	ENST00000379802.3	+	24	8207	c.7866C>T	c.(7864-7866)atC>atT	p.I2622I	DSP_ENST00000418664.2_Silent_p.I2023I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2622	4.5 X 38 AA tandem repeats (Domain C).|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)		TTGCAGCCATCTTTGACACAG	0.488																																						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.(7864-7866)atC>atT		desmoplakin							64	70	68					6																	7585361		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585361C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7866C>T	6.37:g.7585361C>T			Somatic				DSP_ENST00000418664.2_Silent_p.I2023I	p.I2622I	NM_004415.2	NP_004406.2	WXS	Illumina GAIIx	Phase_I	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8207	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2622			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.7866C>T	CCDS4501.1																																																																																				0.488	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		22	81	0	0	0	1	0	22	81					T	7585361	C	T	7585361	2	4	11	1	0	0	0	0	0	0	0	1	4783	903	32	3		3	DSP	6	7585361	Silent	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	355197	7585361	163529706	24	750										
HMGN3	9324	broad.mit.edu	37	chr6	79918282	79918282	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	accgctgacaatctggcagaCcgtcttgtgggctacaaagg	12	11	2	2	rs114465555		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:79918282C>G	ENST00000344726.5	-	3	206	c.78G>C	c.(76-78)cgG>cgC	p.R26R	HMGN3_ENST00000275036.7_Silent_p.R26R	NM_001201362.1|NM_001201363.1|NM_004242.3	NP_001188291.1|NP_001188292.1|NP_004233.1	Q15651	HMGN3_HUMAN	high mobility group nucleosomal binding domain 3	26					chromatin modification (GO:0016568)|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 insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|thyroid hormone receptor binding (GO:0046966)			central_nervous_system(1)|kidney(2)|lung(1)	4		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		ATCTGGCAGACCGTCTTGTGG	0.353																																						ENST00000344726.5																			0				central_nervous_system(1)|kidney(2)|lung(1)	4						c.(76-78)cgG>cgC		high mobility group nucleosomal binding domain 3							164	164	164					6																	79918282		2203	4300	6503	SO:0001819	synonymous_variant	9324				chromatin modification	chromatin|cytoplasm|nucleus	DNA binding|thyroid hormone receptor binding	g.chr6:79918282C>G	L40357	CCDS4988.1, CCDS4989.1, CCDS75485.1	6q14.3	2011-07-01	2002-07-25	2002-07-26	ENSG00000118418	ENSG00000118418		"High-mobility group / Canonical"	12312	protein-coding gene	gene with protein product		604502	"thyroid hormone receptor interactor 7"	TRIP7		7776974, 11356838	Standard	NM_004242		Approved		uc021zbz.1	Q15651	OTTHUMG00000015073	ENST00000344726.5:c.78G>C	6.37:g.79918282C>G			Somatic				HMGN3_ENST00000275036.7_Silent_p.R26R	p.R26R	NM_001201362.1|NM_001201363.1|NM_004242.3	NP_001188291.1|NP_001188292.1|NP_004233.1	WXS	Illumina GAIIx	Phase_I	Q15651	HMGN3_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.125)	3	206	-		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)	26					B2RD37|Q5HYD3|Q7RTT0|Q969M5|Q9BZT7	Silent	SNP	ENST00000344726.5	37	c.78G>C	CCDS4988.1																																																																																				0.353	HMGN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041300.1	NM_004242		27	100	0	0	0	1	0	27	100					G	79918282	C	G	79918282	2	3	11	1	0	0	0	0	0	0	0	1	7245	494	18	5		5	HMGN3	6	79918282	Silent	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	72332921	79918282	91196785	25	751										
DOPEY1	23033	broad.mit.edu	37	chr6	83839206	83839206	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	ggaaccatacatcagagttaCgttctgaaaaattggagact	9	7	2	3			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:83839206C>A	ENST00000349129.2	+	16	2580	c.2320C>A	c.(2320-2322)Cgt>Agt	p.R774S	DOPEY1_ENST00000369739.3_Missense_Mutation_p.R765S|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R755S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	774					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)		ATCAGAGTTACGTTCTGAAAA	0.393																																						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.(2320-2322)Cgt>Agt		dopey family member 1							59	60	60					6																	83839206		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83839206C>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.2320C>A	6.37:g.83839206C>A	ENSP00000195654:p.Arg774Ser		Somatic				DOPEY1_ENST00000369739.3_Missense_Mutation_p.R765S|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R755S	p.R774S	NM_015018.3	NP_055833.2	WXS	Illumina GAIIx	Phase_I	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	16	2580	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	774					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.2320C>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	9.889	1.203592	0.22121	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.20738	2.05;2.05	5.68	1.91	0.25777	.	1.126870	0.06339	N	0.707686	T	0.02688	0.0081	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.47686	-0.9098	10	0.07644	T	0.81	.	6.7987	0.23738	0.1303:0.6714:0.0:0.1983	.	665;765;774	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	S	774;755;755	ENSP00000195654:R774S;ENSP00000237163:R755S	ENSP00000237163:R755S	R	+	1	0	DOPEY1	83895925	0.838000	0.29461	0.299000	0.25016	0.837000	0.47467	0.801000	0.27055	0.060000	0.16281	0.650000	0.86243	CGT		0.393	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		8	24	1	0	0.00621372	1	0.00651245	8	24					A	83839206	C	A	83839206	3	1	11	1	0	0	0	0	1	0	0	0	4709	536	19	5	2374	5	DOPEY1	6	83839206	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	3920924	83839206	87275861	26	752										
CNR1	1268	broad.mit.edu	37	chr6	88854544	88854544	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	ccgatgaagtggtaggaaggCctgcagcggaggctgcggga	19	8	0	1			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:88854544C>G	ENST00000537554.1	-	2	4012	c.450G>C	c.(448-450)agG>agC	p.R150S	CNR1_ENST00000369499.2_Missense_Mutation_p.R150S|CNR1_ENST00000369501.2_Missense_Mutation_p.R150S|CNR1_ENST00000535130.1_Missense_Mutation_p.R150S|CNR1_ENST00000428600.2_Missense_Mutation_p.R150S|CNR1_ENST00000468898.1_Missense_Mutation_p.R117S|CNR1_ENST00000549890.1_Missense_Mutation_p.R150S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Missense_Mutation_p.R89S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	150					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)	GGTAGGAAGGCCTGCAGCGGA	0.602																																						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.(448-450)agG>agC		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						35	35	35					6																	88854544		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854544C>G	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.450G>C	6.37:g.88854544C>G	ENSP00000441046:p.Arg150Ser		Somatic				CNR1_ENST00000369501.2_Missense_Mutation_p.R150S|CNR1_ENST00000468898.1_Missense_Mutation_p.R117S|CNR1_ENST00000549716.1_Missense_Mutation_p.R89S|CNR1_ENST00000549890.1_Missense_Mutation_p.R150S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Missense_Mutation_p.R150S|CNR1_ENST00000535130.1_Missense_Mutation_p.R150S|CNR1_ENST00000428600.2_Missense_Mutation_p.R150S	p.R150S	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	4012	-		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)	150					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.450G>C	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896470	0.52121	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.77	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.29126	0.0724	N	0.20357	0.565	0.80722	D	1	D;D	0.64830	0.989;0.994	D;D	0.75020	0.985;0.953	T	0.08973	-1.0696	10	0.72032	D	0.01	.	12.3979	0.55395	0.0:0.8659:0.0:0.1341	.	117;150	P21554-3;P21554	.;CNR1_HUMAN	S	150;150;150;150;150;117;150;89	ENSP00000358513:R150S;ENSP00000442689:R150S;ENSP00000441046:R150S;ENSP00000358511:R150S;ENSP00000446819:R150S;ENSP00000420188:R117S;ENSP00000412192:R150S;ENSP00000449549:R89S	ENSP00000358511:R150S	R	-	3	2	CNR1	88911263	0.990000	0.36364	1.000000	0.80357	0.859000	0.49053	0.340000	0.19892	2.732000	0.93576	0.563000	0.77884	AGG		0.602	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			3	28	0	0	0	1	0	3	28					G	88854544	C	G	88854544	3	3	11	1	0	0	0	0	1	0	0	0	3633	738	26	5	972	5	CNR1	6	88854544	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	5015338	88854544	82260523	27	753										
TAAR5	9038	broad.mit.edu	37	chr6	132910256	132910256	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	ttgagcagcagctggcaactGcccacacaaggcatctcttc	9	14	1	1			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:132910256G>T	ENST00000258034.2	-	1	621	c.570C>A	c.(568-570)ggC>ggA	p.G190G		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	190					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCTGGCAACTGCCCACACAAG	0.498																																						ENST00000258034.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32						c.(568-570)ggC>ggA		trace amine associated receptor 5							42	44	43					6																	132910256		2201	4300	6501	SO:0001819	synonymous_variant	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910256G>T	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.570C>A	6.37:g.132910256G>T			Somatic					p.G190G	NM_003967.2	NP_003958.2	WXS	Illumina GAIIx	Phase_I	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	621	-	Breast(56;0.112)		190					D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Silent	SNP	ENST00000258034.2	37	c.570C>A	CCDS5156.1																																																																																				0.498	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		6	68	1	0	0.00116845	1	0.001261	6	68					T	132910256	G	T	132910256	2	4	11	1	0	0	0	0	0	0	0	1	15506	1306	46	5		5	TAAR5	6	132910256	Silent	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08	44055712	132910256	38204811	28	754										
ARID1B	57492	broad.mit.edu	37	chr6	157528639	157528639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	tagttaggtacgttggggatCgcaaaaacccagtctgtcga	12	8	1	0			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:157528639C>T	ENST00000350026.5	+	19	6326	c.6325C>T	c.(6325-6327)Cgc>Tgc	p.R2109C	ARID1B_ENST00000275248.4_Missense_Mutation_p.R2104C|ARID1B_ENST00000367148.1_Missense_Mutation_p.R2162C|ARID1B_ENST00000346085.5_Missense_Mutation_p.R2122C	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2109					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)		CGTTGGGGATCGCAAAAACCC	0.488																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(6364-6366)Cgc>Tgc		AT rich interactive domain 1B (SWI1-like)							187	195	192					6																	157528639		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.chr6:157528639C>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.6325C>T	6.37:g.157528639C>T	ENSP00000055163:p.Arg2109Cys		Somatic				ARID1B_ENST00000367148.1_Missense_Mutation_p.R2162C|ARID1B_ENST00000350026.5_Missense_Mutation_p.R2109C|ARID1B_ENST00000275248.4_Missense_Mutation_p.R2104C	p.R2122C	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	6365	+		Breast(66;0.000162)|Ovarian(120;0.0265)	2109					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.6364C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307725	0.40795	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.26	5.26	0.73747	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.61153	-0.7120	10	0.87932	D	0	.	19.2386	0.93873	0.0:1.0:0.0:0.0	.	2109;2122;2104	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	C	2122;2109;2162;2104;1631	ENSP00000344546:R2122C;ENSP00000055163:R2109C;ENSP00000356116:R2162C;ENSP00000275248:R2104C;ENSP00000412835:R1631C	ENSP00000275248:R2104C	R	+	1	0	ARID1B	157570331	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.887000	0.56197	2.607000	0.88179	0.655000	0.94253	CGC		0.488	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		39	176	0	0	0	1	0	39	176					T	157528639	C	T	157528639	3	4	11	1	0	0	0	0	1	0	0	0	914	884	31	1	6442	1	ARID1B	6	157528639	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	24618383	157528639	13586428	29	755										
PURB	5814	broad.mit.edu	37	chr7	44924851	44924851	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	cagccgcttcgaggccagctCctgcgtctcttgctcgccgc	11	18	1	0			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr7:44924851C>G	ENST00000395699.2	-	1	109	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	RP4-673M15.1_ENST00000608450.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	33					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GAGGCCAGCTCCTGCGTCTCT	0.697																																						ENST00000395699.2																			0				large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						c.(97-99)Gag>Cag		purine-rich element binding protein B							13	15	14					7																	44924851		2192	4281	6473	SO:0001583	missense	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924851C>G		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.97G>C	7.37:g.44924851C>G	ENSP00000379051:p.Glu33Gln		Somatic					p.E33Q	NM_033224.3	NP_150093.1	WXS	Illumina GAIIx	Phase_I	Q96QR8	PURB_HUMAN			1	109	-			33					A4D2L7	Missense_Mutation	SNP	ENST00000395699.2	37	c.97G>C	CCDS5499.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075004	0.55646	.	.	ENSG00000146676	ENST00000395699	T	0.37058	1.22	3.03	3.03	0.35002	.	0.000000	0.64402	U	0.000002	T	0.61286	0.2335	M	0.84511	2.7	0.58432	D	0.999994	D	0.76494	0.999	D	0.83275	0.996	T	0.68827	-0.5306	10	0.87932	D	0	.	12.0263	0.53373	0.0:1.0:0.0:0.0	.	33	Q96QR8	PURB_HUMAN	Q	33	ENSP00000379051:E33Q	ENSP00000379051:E33Q	E	-	1	0	PURB	44891376	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	6.885000	0.75606	1.730000	0.51580	0.551000	0.68910	GAG		0.697	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		3	21	0	0	0	1	0	3	21					G	44924851	C	G	44924851	3	3	11	1	0	0	0	0	1	0	0	0	12843	864	30	2	845	2	PURB	7	44924851	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08		44924851	114213812	30	756										
TRIM56	81844	broad.mit.edu	37	chr7	100732400	100732400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	cactgcctagcggggaccgcGtggctgtcagcgtggcgggc	18	13	1	0	rs111492335		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr7:100732400G>A	ENST00000306085.6	+	3	2104	c.1807G>A	c.(1807-1809)Gtg>Atg	p.V603M		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	603					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CGGGGACCGCGTGGCTGTCAG	0.692																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1807-1809)Gtg>Atg		tripartite motif containing 56		G	MET/VAL	1,4003		0,1,2001	36	42	40		1807	3.9	0.9	7	dbSNP_132	40	1,8229		0,1,4114	yes	missense	TRIM56	NM_030961.1	21	0,2,6115	AA,AG,GG		0.0122,0.025,0.0163	possibly-damaging	603/756	100732400	2,12232	2002	4115	6117	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100732400G>A	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1807G>A	7.37:g.100732400G>A	ENSP00000305161:p.Val603Met		Somatic					p.V603M	NM_030961.1	NP_112223.1	WXS	Illumina GAIIx	Phase_I	Q9BRZ2	TRI56_HUMAN			3	2104	+	Lung NSC(181;0.136)|all_lung(186;0.182)		603					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.1807G>A	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610060	0.46527	2.5E-4	1.22E-4	ENSG00000169871	ENST00000306085	T	0.32988	1.43	3.87	3.87	0.44632	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.38348	0.1037	N	0.19112	0.55	0.34459	D	0.701578	D	0.89917	1.0	D	0.76575	0.988	T	0.51332	-0.8719	9	0.87932	D	0	.	11.6696	0.51393	0.0:0.0:1.0:0.0	.	603	Q9BRZ2	TRI56_HUMAN	M	603	ENSP00000305161:V603M	ENSP00000305161:V603M	V	+	1	0	TRIM56	100519120	0.999000	0.42202	0.930000	0.37139	0.238000	0.25445	3.505000	0.53356	2.464000	0.83262	0.586000	0.80456	GTG		0.692	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		5	86	0	0	0	1	0	5	86					A	100732400	G	A	100732400	3	1	11	1	0	0	0	0	1	0	0	0	16545	1145	40	1	1809	1	TRIM56	7	100732400	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08	55807549	100732400	58406263	31	757										
CNPY1	285888	broad.mit.edu	37	chr7	155301672	155301672	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	tttgtctcctttcctaggagCgaatctcttgaaagttctct	7	10	3	1			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr7:155301672C>A	ENST00000321736.5	-	2	223	c.61G>T	c.(61-63)Gct>Tct	p.A21S	CNPY1_ENST00000406197.1_Missense_Mutation_p.A21S|AC008060.5_ENST00000415333.1_RNA	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	21								p.A21T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTCCTAGGAGCGAATCTCTTG	0.403																																						ENST00000321736.5																			1	Substitution - Missense(1)	p.A21T(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(61-63)Gct>Tct		canopy FGF signaling regulator 1							79	77	78					7																	155301672		1807	4076	5883	SO:0001583	missense	285888							g.chr7:155301672C>A		CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"canopy 1 homolog (zebrafish)"			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.61G>T	7.37:g.155301672C>A	ENSP00000317439:p.Ala21Ser		Somatic				CNPY1_ENST00000406197.1_Missense_Mutation_p.A21S	p.A21S	NM_001103176.1	NP_001096646.1	WXS	Illumina GAIIx	Phase_I	Q3B7I2	CNPY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	223	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	21					A6NGX3	Missense_Mutation	SNP	ENST00000321736.5	37	c.61G>T	CCDS43684.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648637	0.67358	.	.	ENSG00000146910	ENST00000406197;ENST00000321736	T;T	0.33865	1.39;1.39	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.56863	0.2014	.	.	.	0.41089	D	0.985587	D	0.67145	0.996	D	0.66979	0.948	T	0.61705	-0.7008	9	0.66056	D	0.02	-18.8207	11.9379	0.52884	0.0:0.9084:0.0:0.0916	.	21	Q3B7I2	CNPY1_HUMAN	S	21	ENSP00000384514:A21S;ENSP00000317439:A21S	ENSP00000317439:A21S	A	-	1	0	CNPY1	154994433	1.000000	0.71417	0.641000	0.29422	0.676000	0.39594	3.272000	0.51616	2.240000	0.73641	0.557000	0.71058	GCT		0.403	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322335.1	XM_001129537		6	18	1	0	0.0215528	1	0.0221627	6	18					A	155301672	C	A	155301672	3	1	11	1	0	0	0	0	1	0	0	0	3629	768	27	5	229	5	CNPY1	7	155301672	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	54569272	155301672	3836991	32	758										
SLC45A4	57210	broad.mit.edu	37	chr8	142228295	142228312	+	In_Frame_Del	DEL	CCCCGCTGGAGGTGGTGG	CCCCGCTGGAGGTGGTGG	-													0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	cccctcctcactctcggtgtCcccgctggaggtggtggccc					rs371249642		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr8:142228295_142228312delCCCCGCTGGAGGTGGTGG	ENST00000024061.3	-	4	1581_1598	c.1274_1291delCCACCACCTCCAGCGGGG	c.(1273-1293)gccaccacctccagcggggac>gac	p.ATTSSG425del	SLC45A4_ENST00000517878.1_In_Frame_Del_p.ATTSSG476del|SLC45A4_ENST00000519067.1_In_Frame_Del_p.ATTSSG425del|SLC45A4_ENST00000433583.2_In_Frame_Del_p.ATTSSG418del	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTCTCGGTGTCCCCGCTGGAGGTGGTGGCCCCGCTCTG	0.679																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1273-1293)gac>g		solute carrier family 45, member 4																																				SO:0001651	inframe_deletion	57210				transport	integral to membrane		g.chr8:142228295_142228312delCCCCGCTGGAGGTGGTGG	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1274_1291delCCACCACCTCCAGCGGGG	8.37:g.142228295_142228312delCCCCGCTGGAGGTGGTGG	ENSP00000024061:p.Ala425_Gly430del		Somatic				SLC45A4_ENST00000517878.1_In_Frame_Del_p.ATTSSGD476del|SLC45A4_ENST00000024061.3_In_Frame_Del_p.ATTSSGD425del|SLC45A4_ENST00000433583.2_In_Frame_Del_p.ATTSSGD418del	p.ATTSSGD425del			WXS	Illumina GAIIx	Phase_I	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1577_1594	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		476					Q6ZRI2|Q9ULU3	In_Frame_Del	DEL	ENST00000024061.3	37	c.1274_1291delCCACCACCTCCAGCGGGG	CCDS34948.1																																																																																				0.679	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		7	106						7	106	---	---	---	---	-	142228312	CCCCGCTGGAGGTGGTGG	-	142228295	7	5	11	1	0	1	0	1	0	0	0	0	14658	855	30	0	1125	0	SLC45A4	8	142228295	In_Frame_Del	DEL	CCCCGCTGGAGGTGGTGG	TCGA-N5-A4RU-01A-31D-A28R-08		142228295	4135727	33	759										
SMARCA2	6595	broad.mit.edu	37	chr9	2054608	2054608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	ttcctttagacttcaggcccGcatagctcataggatacaag	8	11	2	1			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr9:2054608G>A	ENST00000382203.1	+	6	1267	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	SMARCA2_ENST00000382194.1_Missense_Mutation_p.R353H|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R353H|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R353H			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	353					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)		CTTCAGGCCCGCATAGCTCAT	0.398																																						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.(1057-1059)cGc>cAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							94	106	102					9																	2054608		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.chr9:2054608G>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.1058G>A	9.37:g.2054608G>A	ENSP00000371638:p.Arg353His		Somatic				SMARCA2_ENST00000382194.1_Missense_Mutation_p.R353H|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R353H|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R353H	p.R353H			WXS	Illumina GAIIx	Phase_I	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	6	1267	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	353					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.1058G>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474608	0.84640	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	D;D;T;D;D	0.89196	-2.47;-2.48;2.56;-2.47;-2.48	5.93	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	M	0.78916	2.43	0.80722	D	1	B;B	0.13594	0.006;0.008	B;B	0.11329	0.006;0.004	D	0.86851	0.2023	10	0.87932	D	0	-12.7474	15.092	0.72201	0.0677:0.0:0.9323:0.0	.	353;353	P51531-2;P51531	.;SMCA2_HUMAN	H	353	ENSP00000265773:R353H;ENSP00000349788:R353H;ENSP00000392081:R353H;ENSP00000371638:R353H;ENSP00000371629:R353H	ENSP00000265773:R353H	R	+	2	0	SMARCA2	2044608	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.813000	0.99286	1.530000	0.49136	-0.229000	0.12294	CGC		0.398	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		4	76	0	0	0	1	0	4	76					A	2054608	G	A	2054608	3	1	11	1	0	0	0	0	1	0	0	0	14784	1087	38	1	1076	1	SMARCA2	9	2054608	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08		2054608	139158823	34	760										
ZNF33A	7581	broad.mit.edu	37	chr10	38344803	38344803	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	ggagaaaccctacgaatgtcAtgaatgtggaaaaatctttt	9	6	2	2			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:38344803A>T	ENST00000458705.2	+	5	1906	c.1748A>T	c.(1747-1749)cAt>cTt	p.H583L	ZNF33A_ENST00000307441.9_Missense_Mutation_p.H583L|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.H590L|ZNF33A_ENST00000374618.3_Missense_Mutation_p.H584L			Q06730	ZN33A_HUMAN	zinc finger protein 33A	583					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						TACGAATGTCATGAATGTGGA	0.378																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(1750-1752)cAt>cTt		zinc finger protein 33A							85	85	85					10																	38344803		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344803A>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.1748A>T	10.37:g.38344803A>T	ENSP00000387713:p.His583Leu		Somatic				ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.H583L|ZNF33A_ENST00000458705.2_Missense_Mutation_p.H583L|ZNF33A_ENST00000432900.2_Missense_Mutation_p.H590L	p.H584L	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	1929	+			583					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.1751A>T	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	A	6.207	0.406372	0.11754	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	1.68	0.146	0.14833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.681652	0.12120	N	0.497751	T	0.06371	0.0164	N	0.16833	0.445	0.09310	N	1	B;B;B	0.33777	0.372;0.425;0.013	B;B;B	0.31495	0.114;0.131;0.003	T	0.31251	-0.9950	10	0.45353	T	0.12	.	2.1544	0.03808	0.4327:0.2855:0.0:0.2818	.	590;583;584	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	L	584;590;583;583	ENSP00000363747:H584L;ENSP00000402467:H590L;ENSP00000387713:H583L;ENSP00000304268:H583L	ENSP00000304268:H583L	H	+	2	0	ZNF33A	38384809	0.000000	0.05858	0.989000	0.46669	0.557000	0.35523	-0.597000	0.05713	0.746000	0.32786	0.254000	0.18369	CAT		0.378	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		25	49	0	0	0	1	0	25	49					T	38344803	A	T	38344803	3	4	11	1	0	0	0	0	1	0	0	0	17869	217	8	4	1765	4	ZNF33A	10	38344803	Missense_Mutation	SNP	A	TCGA-N5-A4RU-01A-31D-A28R-08		38344803	97189944	35	761										
PCDH15	65217	broad.mit.edu	37	chr10	55568610	55568610	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	tgattctgattcctcctcacTttccacacctccttccaccg	3	18	2	2			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:55568610T>C	ENST00000395445.1	-	36	5594	c.5200A>G	c.(5200-5202)Agt>Ggt	p.S1734G	PCDH15_ENST00000395446.1_Missense_Mutation_p.S930G|PCDH15_ENST00000395440.1_Missense_Mutation_p.S668G|PCDH15_ENST00000395442.1_Missense_Mutation_p.S599G|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCTCCTCACTTTCCACACCT	0.507										HNSCC(58;0.16)																												ENST00000395445.1																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(5200-5202)Agt>Ggt		protocadherin-related 15							149	120	129					10																	55568610		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.chr10:55568610T>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.5200A>G	10.37:g.55568610T>C	ENSP00000378832:p.Ser1734Gly	HNSCC(58;0.16)	Somatic				PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.S930G|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.S668G|PCDH15_ENST00000395442.1_Missense_Mutation_p.S599G|PCDH15_ENST00000395438.1_3'UTR	p.S1734G	NM_001142769.1	NP_001136241.1	WXS	Illumina GAIIx	Phase_I	Q96QU1	PCD15_HUMAN			36	5594	-		Melanoma(3;0.117)|Lung SC(717;0.238)	0					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395445.1	37	c.5200A>G		.	.	.	.	.	.	.	.	.	.	T	13.65	2.300658	0.40694	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.67523	-0.27;0.94;-0.27;-0.27	5.33	5.33	0.75918	.	.	.	.	.	T	0.48768	0.1518	N	0.14661	0.345	0.20196	N	0.999929	B;B	0.34015	0.435;0.435	B;B	0.27262	0.078;0.078	T	0.44802	-0.9304	9	0.45353	T	0.12	.	13.2492	0.60041	0.0:0.0:0.0:1.0	.	1732;1734	C6ZEF5;A2A3E2	.;.	G	1734;930;599;668	ENSP00000378832:S1734G;ENSP00000378833:S930G;ENSP00000378829:S599G;ENSP00000378827:S668G	ENSP00000378827:S668G	S	-	1	0	PCDH15	55238616	0.657000	0.27393	0.848000	0.33437	0.932000	0.56968	2.544000	0.45761	2.018000	0.59344	0.460000	0.39030	AGT		0.507	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		5	8	0	0	0	1	0	5	8					C	55568610	T	C	55568610	3	2	11	1	0	0	0	0	1	0	0	0	11520	1609	56	4	716	4	PCDH15	10	55568610	Missense_Mutation	SNP	T	TCGA-N5-A4RU-01A-31D-A28R-08	17223807	55568610	79966137	36	762										
IFIT1	3434	broad.mit.edu	37	chr10	91162764	91162764	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	aagtacattgaagaagctctAgccaacatgtcctcacagac	7	11	2	3			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:91162764A>G	ENST00000371804.3	+	2	899	c.732A>G	c.(730-732)ctA>ctG	p.L244L	IFIT1_ENST00000546318.1_Silent_p.L213L|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	244					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AAGAAGCTCTAGCCAACATGT	0.418																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(637-639)ctA>ctG		interferon-induced protein with tetratricopeptide repeats 1							145	146	145					10																	91162764		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.chr10:91162764A>G	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.732A>G	10.37:g.91162764A>G			Somatic				LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Silent_p.L244L	p.L213L	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	1926	+			244					B3KS50|D3DR31|Q5T7J1|Q96QM5	Silent	SNP	ENST00000371804.3	37	c.639A>G	CCDS31243.1																																																																																				0.418	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		102	62	0	0	0	1	0	102	62					G	91162764	A	G	91162764	2	3	11	1	0	0	0	0	0	0	0	1	7530	407	15	4		4	IFIT1	10	91162764	Silent	SNP	A	TCGA-N5-A4RU-01A-31D-A28R-08	35594154	91162764	44371983	37	763										
FAM178A	55719	broad.mit.edu	37	chr10	102689755	102689755	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	gtagaaaaacttattcttaaGtaagtagaaaaatagacatt	6	3	1	3			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:102689755G>A	ENST00000238961.4	+	8	2875		c.e8+1		FAM178A_ENST00000370269.3_Splice_Site	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A							chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											TTATTCTTAAGTAAGTAGAAA	0.264																																						ENST00000238961.3																			0											c.e8+1		family with sequence similarity 178, member A							29	33	32					10																	102689755		2164	4264	6428	SO:0001630	splice_region_variant	0							g.chr10:102689755G>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.2333+1G>A	10.37:g.102689755G>A			Somatic				FAM178A_ENST00000370269.3_Splice_Site		NM_018121.3	NP_060591.3	WXS	Illumina GAIIx	Phase_I	Q8IX21	F178A_HUMAN			8	2481	+								A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Splice_Site	SNP	ENST00000238961.4	37		CCDS7500.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136403	0.77662	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8977	0.88893	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM178A	102679745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.721000	0.74728	2.804000	0.96469	0.655000	0.94253	.		0.264	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3		Intron	6	13	0	0	0	1	0	6	13					A	102689755	G	A	102689755	5	1	11	1	0	0	0	0	0	0	1	0	5508	1043	36	3	2364	3	FAM178A	10	102689755	Splice_Site	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08	11526991	102689755	32844992	38	764										
FAM160B1	57700	broad.mit.edu	37	chr10	116606948	116606948	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	cctcctgctactccagaccaCcccaaaaatgatggaaaaac	5	15	0	2			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:116606948C>G	ENST00000369248.4	+	12	2003	c.1668C>G	c.(1666-1668)caC>caG	p.H556Q	FAM160B1_ENST00000369250.3_Missense_Mutation_p.H556Q	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	556										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CTCCAGACCACCCCAAAAATG	0.353																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(1666-1668)caC>caG		family with sequence similarity 160, member B1							75	77	76					10																	116606948		2203	4300	6503	SO:0001583	missense	57700							g.chr10:116606948C>G	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"KIAA1600"	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1668C>G	10.37:g.116606948C>G	ENSP00000358251:p.His556Gln		Somatic				FAM160B1_ENST00000369250.3_Missense_Mutation_p.H556Q	p.H556Q	NM_020940.3	NP_065991.3	WXS	Illumina GAIIx	Phase_I	Q5W0V3	F16B1_HUMAN			12	2003	+			556					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.1668C>G	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295119	0.23564	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.64803	-0.12;-0.12	5.79	1.86	0.25419	.	0.084390	0.85682	D	0.000000	T	0.48059	0.1479	L	0.44542	1.39	0.80722	D	1	B;B	0.21381	0.032;0.055	B;B	0.30251	0.113;0.012	T	0.17531	-1.0366	10	0.12430	T	0.62	-11.3824	6.8539	0.24030	0.0:0.4772:0.0:0.5228	.	556;556	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	Q	556	ENSP00000358251:H556Q;ENSP00000358253:H556Q	ENSP00000358251:H556Q	H	+	3	2	FAM160B1	116596938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.876000	0.28092	0.800000	0.34041	0.644000	0.83932	CAC		0.353	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		3	22	0	0	0	1	0	3	22					G	116606948	C	G	116606948	3	3	11	1	0	0	0	0	1	0	0	0	5475	506	18	5	1714	5	FAM160B1	10	116606948	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	13917193	116606948	18927799	39	765										
OR8H2	390151	broad.mit.edu	37	chr11	55872940	55872940	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	tattatgtccaaaaggctctGcctcgctctcatcactgggc	8	13	3	0			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:55872940G>T	ENST00000313503.1	+	1	422	c.422G>T	c.(421-423)tGc>tTc	p.C141F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					AAAAGGCTCTGCCTCGCTCTC	0.458										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.(421-423)tGc>tTc		olfactory receptor, family 8, subfamily H, member 2							212	193	199					11																	55872940		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872940G>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.422G>T	11.37:g.55872940G>T	ENSP00000323982:p.Cys141Phe	HNSCC(53;0.14)	Somatic					p.C141F	NM_001005200.1	NP_001005200.1	WXS	Illumina GAIIx	Phase_I	Q8N162	OR8H2_HUMAN			1	422	+	Esophageal squamous(21;0.00693)		141					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.422G>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	13.81	2.349507	0.41599	.	.	ENSG00000181767	ENST00000313503	T	0.00220	8.52	3.58	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000019	T	0.00724	0.0024	M	0.93062	3.375	0.09310	N	1	D	0.67145	0.996	D	0.72338	0.977	T	0.12091	-1.0561	10	0.87932	D	0	.	13.5835	0.61917	0.0:0.1575:0.8425:0.0	.	141	Q8N162	OR8H2_HUMAN	F	141	ENSP00000323982:C141F	ENSP00000323982:C141F	C	+	2	0	OR8H2	55629516	0.221000	0.23642	0.004000	0.12327	0.031000	0.12232	2.998000	0.49465	0.789000	0.33779	0.440000	0.28878	TGC		0.458	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		12	424	1	0	7.03913e-09	1	8.07647e-09	12	424					T	55872940	G	T	55872940	3	4	11	1	0	0	0	0	1	0	0	0	11247	1319	46	5	424	5	OR8H2	11	55872940	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08		55872940	79133576	40	766										
SART1	9092	broad.mit.edu	37	chr11	65729347	65729347	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	accgagcagccgccgcggcaCcgggaacacaaaaaacacaa	10	15	0	0			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:65729347C>T	ENST00000312397.5	+	1	188	c.96C>T	c.(94-96)caC>caT	p.H32H	SART1_ENST00000528573.1_3'UTR|TSGA10IP_ENST00000608857.1_RNA|TSGA10IP_ENST00000532620.1_RNA	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	32					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						cgccgcggcaccgggaacaca	0.721																																						ENST00000312397.5																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(94-96)caC>caT		squamous cell carcinoma antigen recognized by T cells							8	12	11					11																	65729347		2019	3847	5866	SO:0001819	synonymous_variant	9092				cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		g.chr11:65729347C>T	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"	605941	"squamous cell carcinoma antigen recognised by T cells"			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.96C>T	11.37:g.65729347C>T			Somatic				SART1_ENST00000528573.1_3'UTR	p.H32H	NM_005146.4	NP_005137.1	WXS	Illumina GAIIx	Phase_I	O43290	SNUT1_HUMAN			1	188	+			32					A6NDN1|Q53GB5	Silent	SNP	ENST00000312397.5	37	c.96C>T	CCDS31611.1																																																																																				0.721	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			3	9	0	0	0	1	0	3	9					T	65729347	C	T	65729347	2	4	11	1	0	0	0	0	0	0	0	1	13861	506	18	3		3	SART1	11	65729347	Silent	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	9856407	65729347	69277169	41	767										
TYR	7299	broad.mit.edu	37	chr11	88924523	88924523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	tagaattttgcctgagtttgAcccaatatgaatctggttcc	8	8	1	4	rs61754379		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:88924523A>G	ENST00000263321.5	+	2	1475	c.973A>G	c.(973-975)Acc>Gcc	p.T325A	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	325			T -> A (in OCA1B).		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CCTGAGTTTGACCCAATATGA	0.418																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	GRCh37	CM971548	TYR	M	rs61754379	c.(973-975)Acc>Gcc		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						116	115	115					11																	88924523		2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88924523A>G	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.973A>G	11.37:g.88924523A>G	ENSP00000263321:p.Thr325Ala		Somatic				TYR_ENST00000526139.1_3'UTR	p.T325A	NM_000372.4	NP_000363.1	WXS	Illumina GAIIx	Phase_I	P14679	TYRO_HUMAN			2	1475	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	325		T -> A (in OCA1B).			Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.973A>G	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	A	6.967	0.548412	0.13312	.	.	ENSG00000077498	ENST00000263321	D	0.97186	-4.28	5.59	4.44	0.53790	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.196758	0.52532	D	0.000062	D	0.94955	0.8368	L	0.58101	1.795	0.43300	D	0.995297	B	0.13145	0.007	B	0.12837	0.008	D	0.91580	0.5278	9	.	.	.	.	12.776	0.57448	0.863:0.137:0.0:0.0	rs61754379	325	P14679	TYRO_HUMAN	A	325	ENSP00000263321:T325A	.	T	+	1	0	TYR	88564171	0.964000	0.33143	0.943000	0.38184	0.920000	0.55202	3.078000	0.50096	0.930000	0.37217	0.533000	0.62120	ACC		0.418	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		31	79	0	0	0	1	0	31	79					G	88924523	A	G	88924523	3	3	11	1	0	0	0	0	1	0	0	0	16828	275	10	4	979	4	TYR	11	88924523	Missense_Mutation	SNP	A	TCGA-N5-A4RU-01A-31D-A28R-08	23195176	88924523	46081993	42	768										
CNTN5	53942	broad.mit.edu	37	chr11	99932018	99932018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	acgtctgcggaaatctcaggCggtgctggaaataccgaatg	13	9	2	0	rs199796384		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:99932018C>T	ENST00000524871.1	+	10	1345	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	CNTN5_ENST00000528682.1_Missense_Mutation_p.A352V|CNTN5_ENST00000279463.3_Missense_Mutation_p.A352V|CNTN5_ENST00000418526.2_Missense_Mutation_p.A278V|CNTN5_ENST00000527185.1_Missense_Mutation_p.A352V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	352	Ig-like C2-type 3.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.A352V(2)		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)		AAATCTCAGGCGGTGCTGGAA	0.433																																						ENST00000524871.1																			2	Substitution - Missense(2)	p.A352V(2)	endometrium(2)	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.(1054-1056)gCg>gTg		contactin 5							132	126	128					11																	99932018		1921	4130	6051	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99932018C>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1055C>T	11.37:g.99932018C>T	ENSP00000435637:p.Ala352Val		Somatic				CNTN5_ENST00000527185.1_Missense_Mutation_p.A352V|CNTN5_ENST00000528682.1_Missense_Mutation_p.A352V|CNTN5_ENST00000418526.2_Missense_Mutation_p.A278V|CNTN5_ENST00000279463.3_Missense_Mutation_p.A352V	p.A352V	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)	10	1345	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	352			Ig-like C2-type 3.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.1055C>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300010	0.81136	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.51	4.54	0.55810	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.101580	0.64402	D	0.000003	T	0.72195	0.3430	L	0.31845	0.965	0.58432	D	0.999999	D;D;D	0.67145	0.996;0.986;0.996	D;P;D	0.65010	0.931;0.738;0.931	T	0.74281	-0.3716	10	0.59425	D	0.04	.	16.1682	0.81786	0.0:0.824:0.176:0.0	.	352;278;352	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	V	352;352;352;278;352	ENSP00000433575:A352V;ENSP00000436185:A352V;ENSP00000435637:A352V;ENSP00000393229:A278V;ENSP00000279463:A352V	ENSP00000279463:A352V	A	+	2	0	CNTN5	99437228	0.999000	0.42202	0.990000	0.47175	0.977000	0.68977	3.952000	0.56691	2.750000	0.94351	0.585000	0.79938	GCG		0.433	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		35	34	0	0	0	1	0	35	34					T	99932018	C	T	99932018	3	4	11	1	0	0	0	0	1	0	0	0	3646	768	27	1	1085	1	CNTN5	11	99932018	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	11007495	99932018	35074498	43	769										
MPZL3	196264	broad.mit.edu	37	chr11	118107897	118107897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	tatagatgcatcccctttgtAtacatttccaacccaggaaa	5	11	0	1			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:118107897A>G	ENST00000278949.4	-	3	374	c.319T>C	c.(319-321)Tac>Cac	p.Y107H	MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Missense_Mutation_p.Y95H			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	107	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TCCCCTTTGTATACATTTCCA	0.423																																						ENST00000278949.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8						c.(319-321)Tac>Cac		myelin protein zero-like 3							208	194	199					11																	118107897		2200	4296	6496	SO:0001583	missense	196264				cell adhesion	integral to membrane		g.chr11:118107897A>G	AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"Immunoglobulin superfamily / V-set domain containing"	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.319T>C	11.37:g.118107897A>G	ENSP00000278949:p.Tyr107His		Somatic				MPZL3_ENST00000527472.1_Missense_Mutation_p.Y95H|MPZL3_ENST00000525386.1_Intron	p.Y107H			WXS	Illumina GAIIx	Phase_I	Q6UWV2	MPZL3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	3	374	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	107			Ig-like V-type.		A8K025|B4DLD5|B4E2I8	Missense_Mutation	SNP	ENST00000278949.4	37	c.319T>C	CCDS8392.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.079087	0.36662	.	.	ENSG00000160588	ENST00000278949;ENST00000527472	T;T	0.64618	-0.11;-0.11	5.98	4.83	0.62350	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.255229	0.32533	N	0.005976	T	0.62109	0.2401	N	0.25647	0.755	0.27717	N	0.945269	D;D	0.71674	0.997;0.998	D;D	0.66196	0.942;0.942	T	0.54364	-0.8305	10	0.35671	T	0.21	.	7.3073	0.26455	0.5694:0.3007:0.0:0.1299	.	95;107	B4E2I8;Q6UWV2	.;MPZL3_HUMAN	H	107;95	ENSP00000278949:Y107H;ENSP00000432106:Y95H	ENSP00000278949:Y107H	Y	-	1	0	MPZL3	117613107	0.988000	0.35896	0.949000	0.38748	0.992000	0.81027	2.943000	0.49026	1.056000	0.40484	0.482000	0.46254	TAC		0.423	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275		55	70	0	0	0	1	0	55	70					G	118107897	A	G	118107897	3	3	11	1	0	0	0	0	1	0	0	0	9760	449	16	4	404	4	MPZL3	11	118107897	Missense_Mutation	SNP	A	TCGA-N5-A4RU-01A-31D-A28R-08	18175879	118107897	16898619	44	770										
C12orf35	55196	broad.mit.edu	37	chr12	32135825	32135825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	atgtaagtggcagggttttgGacaactccttttgcagtgga	13	6	0	0			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr12:32135825G>A	ENST00000312561.4	+	4	2350	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	646																	CAGGGTTTTGGACAACTCCTT	0.418																																						ENST00000312561.4																			0											c.(1936-1938)Gac>Aac		KIAA1551							67	64	65					12																	32135825		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32135825G>A	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1936G>A	12.37:g.32135825G>A	ENSP00000310338:p.Asp646Asn		Somatic				KIAA1551_ENST00000535596.1_Intron	p.D646N	NM_018169.3	NP_060639.3	WXS	Illumina GAIIx	Phase_I					4	2350	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.1936G>A	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123395	0.56613	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.08546	3.69;3.08	4.43	1.47	0.22746	.	1.143760	0.06692	N	0.769947	T	0.06645	0.0170	L	0.29908	0.895	0.09310	N	1	B	0.24882	0.113	B	0.21917	0.037	T	0.44559	-0.9320	9	.	.	.	.	5.5845	0.17267	0.1832:0.1628:0.654:0.0	.	646	Q9HCM1	CL035_HUMAN	N	646	ENSP00000310338:D646N;ENSP00000370442:D646N	.	D	+	1	0	C12orf35	32027092	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.267000	0.18552	0.286000	0.22352	0.563000	0.77884	GAC		0.418	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		11	56	0	0	0	1	0	11	56					A	32135825	G	A	32135825	3	1	11	1	0	0	0	0	1	0	0	0	1684	1174	41	3	1938	3	C12orf35	12	32135825	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08		32135825	101716070	45	771										
LRP1	4035	broad.mit.edu	37	chr12	57571295	57571295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	ctgggcgccgcaccgtgcacCgggagaccggctctgggggc	18	15	1	1			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr12:57571295C>T	ENST00000243077.3	+	26	4748	c.4282C>T	c.(4282-4284)Cgg>Tgg	p.R1428W		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1428					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)	CACCGTGCACCGGGAGACCGG	0.667																																						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.(4282-4284)Cgg>Tgg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						37	38	37					12																	57571295		2203	4299	6502	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.chr12:57571295C>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.4282C>T	12.37:g.57571295C>T	ENSP00000243077:p.Arg1428Trp		Somatic					p.R1428W	NM_002332.2	NP_002323.2	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	26	4748	+			1428					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.4282C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791569	0.70452	.	.	ENSG00000123384	ENST00000243077	D	0.96073	-3.9	5.04	3.18	0.36537	Six-bladed beta-propeller, TolB-like (1);	0.082939	0.47852	D	0.000219	D	0.93220	0.7840	N	0.15975	0.35	0.80722	D	1	D	0.65815	0.995	P	0.57101	0.813	D	0.93014	0.6434	10	0.72032	D	0.01	.	12.2413	0.54544	0.5644:0.4356:0.0:0.0	.	1428	Q07954	LRP1_HUMAN	W	1428	ENSP00000243077:R1428W	ENSP00000243077:R1428W	R	+	1	2	LRP1	55857562	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.788000	0.38714	0.685000	0.31468	0.462000	0.41574	CGG		0.667	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		19	31	0	0	0	1	0	19	31					T	57571295	C	T	57571295	3	4	11	1	0	0	0	0	1	0	0	0	8960	643	23	1	4384	1	LRP1	12	57571295	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	25435470	57571295	76280600	46	772										
LRCH1	23143	broad.mit.edu	37	chr13	47262018	47262018	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	gggcaaagttcacatatttaAgtatctgagcatacaagcat	8	7	2	1			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr13:47262018A>C	ENST00000389798.3	+	6	1051	c.854A>C	c.(853-855)aAg>aCg	p.K285T	LRCH1_ENST00000311191.6_Missense_Mutation_p.K285T|LRCH1_ENST00000389797.3_Missense_Mutation_p.K285T	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	285										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)		CACATATTTAAGTATCTGAGC	0.373																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(853-855)aAg>aCg		leucine-rich repeats and calponin homology (CH) domain containing 1							81	83	83					13																	47262018		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47262018A>C	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.854A>C	13.37:g.47262018A>C	ENSP00000374448:p.Lys285Thr		Somatic				LRCH1_ENST00000389797.3_Missense_Mutation_p.K285T|LRCH1_ENST00000389798.3_Missense_Mutation_p.K285T	p.K285T	NM_001164213.1	NP_001157685.1	WXS	Illumina GAIIx	Phase_I	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	6	1083	+		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)	285					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.854A>C	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395006	0.83011	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797;ENST00000463929;ENST00000478412	T;T;T;T	0.24538	2.22;2.22;2.22;1.85	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.52517	0.1739	M	0.79011	2.435	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.737	D;D;D;P	0.91635	0.997;0.999;0.999;0.641	T	0.56329	-0.7997	10	0.59425	D	0.04	-22.8362	14.8613	0.70384	1.0:0.0:0.0:0.0	.	285;285;285;285	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	T	285;285;285;31;31	ENSP00000308493:K285T;ENSP00000374448:K285T;ENSP00000374447:K285T;ENSP00000419256:K31T	ENSP00000308493:K285T	K	+	2	0	LRCH1	46160019	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.586000	0.90806	2.179000	0.69175	0.477000	0.44152	AAG		0.373	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		7	29	0	0	0	1	0	7	29					C	47262018	A	C	47262018	3	2	11	1	0	0	0	0	1	0	0	0	8941	72	3	4	876	4	LRCH1	13	47262018	Missense_Mutation	SNP	A	TCGA-N5-A4RU-01A-31D-A28R-08		47262018	67907860	47	773										
EFNB2	1948	broad.mit.edu	37	chr13	107165066	107165066	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	ataaactttataatattcatActggccaacagttttagagt	5	6	1	1			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr13:107165066A>C	ENST00000245323.4	-	2	366	c.217T>G	c.(217-219)Tat>Gat	p.Y73D		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	73	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TAATATTCATACTGGCCAACA	0.388																																						ENST00000245323.4																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13						c.(217-219)Tat>Gat		ephrin-B2							125	132	129					13																	107165066		2203	4300	6503	SO:0001583	missense	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107165066A>C	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"Ephrins"	3227	protein-coding gene	gene with protein product	"HTK ligand", "ligand of eph-related kinase 5", "eph-related receptor tyrosine kinase ligand 5"	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.217T>G	13.37:g.107165066A>C	ENSP00000245323:p.Tyr73Asp		Somatic					p.Y73D	NM_004093.3	NP_004084.1	WXS	Illumina GAIIx	Phase_I	P52799	EFNB2_HUMAN			2	366	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		73					Q5JV56	Missense_Mutation	SNP	ENST00000245323.4	37	c.217T>G	CCDS9507.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307117	0.60305	.	.	ENSG00000125266	ENST00000245323	D	0.95205	-3.64	5.41	5.41	0.78517	Cupredoxin (2);	0.268590	0.38326	N	0.001733	D	0.95582	0.8564	M	0.80982	2.52	0.58432	D	0.999996	P	0.41524	0.753	P	0.46796	0.527	D	0.95643	0.8700	10	0.52906	T	0.07	.	15.7499	0.77976	1.0:0.0:0.0:0.0	.	73	P52799	EFNB2_HUMAN	D	73	ENSP00000245323:Y73D	ENSP00000245323:Y73D	Y	-	1	0	EFNB2	105963067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.558000	0.73942	2.188000	0.69820	0.533000	0.62120	TAT		0.388	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		8	53	0	0	0	1	0	8	53					C	107165066	A	C	107165066	3	2	11	1	0	0	0	0	1	0	0	0	4958	391	14	4	800	4	EFNB2	13	107165066	Missense_Mutation	SNP	A	TCGA-N5-A4RU-01A-31D-A28R-08	59903048	107165066	8004812	48	774										
VPS18	57617	broad.mit.edu	37	chr15	41192287	41192287	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	gcggcccgactgcctggacaCggtcctggcccgggaggccg	17	16	0	0	rs373367742		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:41192287C>G	ENST00000220509.5	+	4	1610	c.1271C>G	c.(1270-1272)aCg>aGg	p.T424R	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	424					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)		TGCCTGGACACGGTCCTGGCC	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.(1270-1272)aCg>aGg		vacuolar protein sorting 18 homolog (S. cerevisiae)							63	69	67					15																	41192287		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.chr15:41192287C>G	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.1271C>G	15.37:g.41192287C>G	ENSP00000220509:p.Thr424Arg		Somatic				VPS18_ENST00000558474.1_Intron	p.T424R	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	1610	+		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)	424					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.1271C>G	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	C	2.555	-0.303156	0.05495	.	.	ENSG00000104142	ENST00000220509	T	0.21031	2.03	5.06	5.06	0.68205	Pep3/Vps18/deep orange (1);	0.141095	0.64402	D	0.000004	T	0.14013	0.0339	N	0.19112	0.55	0.80722	D	1	B	0.18166	0.026	B	0.26416	0.069	T	0.11203	-1.0597	10	0.13853	T	0.58	-15.566	12.6688	0.56857	0.0:0.9131:0.0:0.0869	.	424	Q9P253	VPS18_HUMAN	R	424	ENSP00000220509:T424R	ENSP00000220509:T424R	T	+	2	0	VPS18	38979579	0.994000	0.37717	0.956000	0.39512	0.977000	0.68977	2.759000	0.47573	2.517000	0.84864	0.561000	0.74099	ACG		0.617	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			7	68	0	0	0	1	0	7	68					G	41192287	C	G	41192287	3	3	11	1	0	0	0	0	1	0	0	0	17209	536	19	5	1285	5	VPS18	15	41192287	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08		41192287	61339105	49	775										
TLN2	83660	broad.mit.edu	37	chr15	63084975	63084975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	tgatcgaatgcgcccgtgccGtcacggaaaaggtaaggagc	14	10	1	1	rs375769813		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:63084975G>A	ENST00000561311.1	+	45	6102	c.5872G>A	c.(5872-5874)Gtc>Atc	p.V1958I	TLN2_ENST00000306829.6_Missense_Mutation_p.V1958I			Q9Y4G6	TLN2_HUMAN	talin 2	1958					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						CGCCCGTGCCGTCACGGAAAA	0.577																																						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.(5872-5874)Gtc>Atc		talin 2		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	37	38	38		5872	4.7	1	15		38	0,8600		0,0,4300	no	missense	TLN2	NM_015059.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	1958/2543	63084975	1,13005	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.chr15:63084975G>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.5872G>A	15.37:g.63084975G>A	ENSP00000453508:p.Val1958Ile		Somatic				TLN2_ENST00000306829.6_Missense_Mutation_p.V1958I	p.V1958I			WXS	Illumina GAIIx	Phase_I	Q9Y4G6	TLN2_HUMAN			45	6102	+			1958					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.5872G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881887	0.72294	2.27E-4	0.0	ENSG00000171914	ENST00000306829	T	0.25749	1.78	5.67	4.74	0.60224	Vinculin-binding site-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	M	0.78637	2.42	0.80722	D	1	P	0.44690	0.841	B	0.38712	0.28	T	0.19614	-1.0300	10	0.39692	T	0.17	-35.9298	15.0152	0.71578	0.0691:0.0:0.9309:0.0	.	1958	Q9Y4G6	TLN2_HUMAN	I	1958	ENSP00000303476:V1958I	ENSP00000303476:V1958I	V	+	1	0	TLN2	60872028	1.000000	0.71417	0.955000	0.39395	0.466000	0.32739	9.813000	0.99286	2.677000	0.91161	0.655000	0.94253	GTC		0.577	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			8	19	0	0	0	1	0	8	19					A	63084975	G	A	63084975	3	1	11	1	0	0	0	0	1	0	0	0	15963	1145	40	1	6042	1	TLN2	15	63084975	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08	21892688	63084975	39446417	50	776										
SGK269	79834	broad.mit.edu	37	chr15	77473103	77473103	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	cctgattattactagagggaCtttcataattgggctcaatt	8	7	2	2			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:77473103C>G	ENST00000560626.2	-	4	1641	c.1166G>C	c.(1165-1167)aGt>aCt	p.S389T	PEAK1_ENST00000312493.4_Missense_Mutation_p.S389T|PEAK1_ENST00000558305.1_Missense_Mutation_p.S389T			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	389	Ser-rich.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ACTAGAGGGACTTTCATAATT	0.413																																						ENST00000560626.2																			0											c.(1165-1167)aGt>aCt		pseudopodium-enriched atypical kinase 1							99	89	92					15																	77473103		1829	4080	5909	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77473103C>G		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.1166G>C	15.37:g.77473103C>G	ENSP00000452796:p.Ser389Thr		Somatic				PEAK1_ENST00000312493.4_Missense_Mutation_p.S389T|PEAK1_ENST00000558305.1_Missense_Mutation_p.S389T	p.S389T			WXS	Illumina GAIIx	Phase_I	Q9H792	PEAK1_HUMAN			4	1641	-			389			Ser-rich.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.1166G>C	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	1.871	-0.460244	0.04508	.	.	ENSG00000173517	ENST00000312493	T	0.70516	-0.49	5.2	1.73	0.24493	.	0.502137	0.13938	U	0.352384	T	0.52224	0.1721	N	0.19112	0.55	0.09310	N	1	B	0.19200	0.034	B	0.16722	0.016	T	0.41502	-0.9505	10	0.39692	T	0.17	-0.0119	8.0155	0.30379	0.0:0.6987:0.135:0.1663	.	389	Q9H792	PEAK1_HUMAN	T	389	ENSP00000309230:S389T	ENSP00000309230:S389T	S	-	2	0	AC087465.1	75260158	0.336000	0.24757	0.015000	0.15790	0.189000	0.23516	0.326000	0.19646	0.560000	0.29169	-0.142000	0.14014	AGT		0.413	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			9	28	0	0	0	1	0	9	28					G	77473103	C	G	77473103	3	3	11	1	0	0	0	0	1	0	0	0	14226	565	20	5	4090	5	SGK269	15	77473103	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	14388128	77473103	25058289	51	777										
MAN2A2	4122	broad.mit.edu	37	chr15	91447499	91447499	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	cttctgtgtggcagtcttctCgctctacctcatgctggacc	9	14	5	0	rs560640558		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:91447499C>G	ENST00000559717.1	+	2	521	c.62C>G	c.(61-63)tCg>tGg	p.S21W	MAN2A2_ENST00000360468.3_Missense_Mutation_p.S21W			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	21					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)			GCAGTCTTCTCGCTCTACCTC	0.557																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(61-63)tCg>tGg		mannosidase, alpha, class 2A, member 2							187	170	176					15																	91447499		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.chr15:91447499C>G	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.62C>G	15.37:g.91447499C>G	ENSP00000452948:p.Ser21Trp		Somatic				MAN2A2_ENST00000559717.1_Missense_Mutation_p.S21W	p.S21W	NM_006122.2	NP_006113.2	WXS	Illumina GAIIx	Phase_I	P49641	MA2A2_HUMAN	Lung(145;0.229)		1	80	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		21					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.62C>G	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	C	35	5.524358	0.96431	.	.	ENSG00000196547	ENST00000360468	T	0.79845	-1.31	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.88496	0.6452	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86872	0.2036	10	0.39692	T	0.17	-17.8789	18.5822	0.91176	0.0:1.0:0.0:0.0	.	21;21	P49641-1;P49641	.;MA2A2_HUMAN	W	21	ENSP00000353655:S21W	ENSP00000353655:S21W	S	+	2	0	MAN2A2	89248503	1.000000	0.71417	0.960000	0.40013	0.979000	0.70002	7.322000	0.79097	2.678000	0.91216	0.555000	0.69702	TCG		0.557	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		25	44	0	0	0	1	0	25	44					G	91447499	C	G	91447499	3	3	11	1	0	0	0	0	1	0	0	0	9224	893	31	2	64	2	MAN2A2	15	91447499	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	13974396	91447499	11083893	52	778										
NLRC3	197358	broad.mit.edu	37	chr16	3613453	3613453	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	gcccgctgggctgcgctcctGaaatgcgtgaggaagcccag	15	13	0	2			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:3613453G>A	ENST00000301749.7	-	0	1890				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCGCTCCTGAAATGCGTGA	0.642																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							11	13	13					16																	3613453		2044	4184	6228			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613453G>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613453G>A			Somatic				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA		NM_178844.2	NP_849172.2	WXS	Illumina GAIIx	Phase_I	Q7RTR2	NLRC3_HUMAN			0	1890	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37																																																																																						0.642	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		5	4	0	0	0	1	0	5	4					A	3613453	G	A	3613453	1	1	11	0	1	0	0	0	0	0	0	0	10477	1281	45	3		3	NLRC3	16	3613453	RNA	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08		3613453	86741300	53	779										
MMP2	4313	broad.mit.edu	37	chr16	55523609	55523609	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	gaaggtgccccctgtgtcttCcccttcactttcctgggcaa	9	15	2	0			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:55523609C>A	ENST00000219070.4	+	7	1562	c.1053C>A	c.(1051-1053)ttC>ttA	p.F351L	MMP2_ENST00000570308.1_Missense_Mutation_p.F275L|MMP2_ENST00000543485.1_Missense_Mutation_p.F275L|MMP2_ENST00000437642.2_Missense_Mutation_p.F301L	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	351	Collagen-binding.|Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				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)	CCTGTGTCTTCCCCTTCACTT	0.577																																						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.(1051-1053)ttC>ttA		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						127	124	125					16																	55523609		2198	4300	6498	SO:0001583	missense	0				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55523609C>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.1053C>A	16.37:g.55523609C>A	ENSP00000219070:p.Phe351Leu		Somatic				MMP2_ENST00000570308.1_Missense_Mutation_p.F275L|MMP2_ENST00000543485.1_Missense_Mutation_p.F275L|MMP2_ENST00000437642.2_Missense_Mutation_p.F301L	p.F351L	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)	7	1562	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	351			Collagen-binding.|Fibronectin type-II 3.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1053C>A	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079539	0.76528	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.70516	-0.49;-0.49;-0.49	4.91	3.94	0.45596	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.049905	0.85682	N	0.000000	T	0.81936	0.4928	M	0.85462	2.755	0.80722	D	1	D;P	0.76494	0.999;0.935	D;P	0.69307	0.963;0.691	T	0.82456	-0.0448	10	0.52906	T	0.07	.	7.9394	0.29950	0.0:0.765:0.0:0.235	.	301;351	E9PE45;P08253	.;MMP2_HUMAN	L	351;275;301	ENSP00000219070:F351L;ENSP00000444143:F275L;ENSP00000394237:F301L	ENSP00000219070:F351L	F	+	3	2	MMP2	54081110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.722000	0.25925	2.423000	0.82170	0.655000	0.94253	TTC		0.577	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			28	49	1	0	2.44723e-14	1	2.86826e-14	28	49					A	55523609	C	A	55523609	3	1	11	1	0	0	0	0	1	0	0	0	9667	854	30	2	1086	2	MMP2	16	55523609	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	51910156	55523609	34831144	54	780										
CDK10	8558	broad.mit.edu	37	chr16	89762026	89762026	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	gtgagccggagctcatgccgAcctttccccaccaccgcaac	9	18	1	1			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:89762026A>C	ENST00000353379.7	+	13	1052	c.1009A>C	c.(1009-1011)Acc>Ccc	p.T337P	CDK10_ENST00000331006.8_Missense_Mutation_p.T290P|CDK10_ENST00000505473.1_Intron	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	337					negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GCTCATGCCGACCTTTCCCCA	0.672																																						ENST00000331006.8																			0				ovary(1)	1						c.(868-870)Acc>Ccc		cyclin-dependent kinase 10							20	26	24					16																	89762026		2191	4295	6486	SO:0001583	missense	8558				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr16:89762026A>C	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"Cyclin-dependent kinases"	1770	protein-coding gene	gene with protein product		603464	"cyclin-dependent kinase (CDC2-like) 10"			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.1009A>C	16.37:g.89762026A>C	ENSP00000338673:p.Thr337Pro		Somatic				CDK10_ENST00000505473.1_Intron|CDK10_ENST00000353379.7_Missense_Mutation_p.T337P	p.T290P			WXS	Illumina GAIIx	Phase_I	Q15131	CDK10_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0276)	12	2609	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	337			Protein kinase.		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	ENST00000353379.7	37	c.868A>C	CCDS10984.2	.	.	.	.	.	.	.	.	.	.	A	31	5.089272	0.94100	.	.	ENSG00000185324	ENST00000331006;ENST00000353379	T;T	0.72167	-0.63;-0.57	4.8	4.8	0.61643	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	L	0.27053	0.805	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.71184	0.955;0.972	T	0.78612	-0.2136	10	0.87932	D	0	-36.612	14.3347	0.66581	1.0:0.0:0.0:0.0	.	337;260	Q15131;Q15131-3	CDK10_HUMAN;.	P	290;337	ENSP00000329957:T290P;ENSP00000338673:T337P	ENSP00000329957:T290P	T	+	1	0	CDK10	88289527	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.623000	0.67757	1.789000	0.52484	0.455000	0.32223	ACC		0.672	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			5	9	0	0	0	1	0	5	9					C	89762026	A	C	89762026	3	2	11	1	0	0	0	0	1	0	0	0	3127	275	10	4	1059	4	CDK10	16	89762026	Missense_Mutation	SNP	A	TCGA-N5-A4RU-01A-31D-A28R-08	34238417	89762026	592727	55	781										
TP53	7157	broad.mit.edu	37	chr17	7578395	7578395	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	gctatctgagcagcgctcatGgtgggggcagcgcctcacaa	14	12	3	1	rs587780070		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr17:7578395G>C	ENST00000269305.4	-	5	724	c.535C>G	c.(535-537)Cat>Gat	p.H179D	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179D|TP53_ENST00000413465.2_Missense_Mutation_p.H179D|TP53_ENST00000420246.2_Missense_Mutation_p.H179D|TP53_ENST00000445888.2_Missense_Mutation_p.H179D|TP53_ENST00000359597.4_Missense_Mutation_p.H179D	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	179	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 sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)	CAGCGCTCATGGTGGGGGCAG	0.642		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"		197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(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	GRCh37	CM067054	TP53	M		c.(535-537)Cat>Gat	Other conserved DNA damage response genes	tumor protein p53							47	47	47					17																	7578395		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.chr17:7578395G>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.535C>G	17.37:g.7578395G>C	ENSP00000269305:p.His179Asp	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_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179D|TP53_ENST00000269305.4_Missense_Mutation_p.H179D|TP53_ENST00000359597.4_Missense_Mutation_p.H179D|TP53_ENST00000455263.2_Missense_Mutation_p.H179D|TP53_ENST00000445888.2_Missense_Mutation_p.H179D	p.H179D	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	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		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 sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.535C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013188	0.93346	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99907	-7.78;-7.78;-7.78;-7.78;-7.78;-7.78;-7.78;-7.78	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);	0.048592	0.85682	D	0.000000	D	0.99904	0.9954	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.97;1.0;0.993;1.0;0.994;1.0;0.998	D;D;D;D;D;D;D	0.97110	0.955;0.998;0.972;1.0;0.991;0.998;0.98	D	0.96140	0.9099	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179D;ENSP00000352610:H179D;ENSP00000269305:H179D;ENSP00000398846:H179D;ENSP00000391127:H179D;ENSP00000391478:H179D;ENSP00000425104:H47D;ENSP00000423862:H86D	ENSP00000269305:H179D	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	7	0	0	0	1	0	28	7					C	7578395	G	C	7578395	3	2	11	1	0	0	0	0	1	0	0	0	16396	1348	47	5	763	5	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08		7578395	73616815	56	782										
GPATCH8	23131	broad.mit.edu	37	chr17	42478776	42478776	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	tcttctccaccttcttcatcTacagccactgtggttggttt	6	13	5	0			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr17:42478776T>C	ENST00000591680.1	-	8	699	c.669A>G	c.(667-669)gtA>gtG	p.V223V	GPATCH8_ENST00000434000.1_Silent_p.V145V	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	223							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)		CTTCTTCATCTACAGCCACTG	0.418																																						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.(433-435)gtA>gtG		G patch domain containing 8							116	121	119					17																	42478776		2202	4299	6501	SO:0001819	synonymous_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42478776T>C	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.669A>G	17.37:g.42478776T>C			Somatic				GPATCH8_ENST00000591680.1_Silent_p.V223V	p.V145V			WXS	Illumina GAIIx	Phase_I	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	717	-		Prostate(33;0.0181)	223					B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	c.435A>G	CCDS32666.1																																																																																				0.418	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		22	63	0	0	0	1	0	22	63					C	42478776	T	C	42478776	2	2	11	1	0	0	0	0	0	0	0	1	6602	1509	53	4		4	GPATCH8	17	42478776	Silent	SNP	T	TCGA-N5-A4RU-01A-31D-A28R-08	34900381	42478776	38716434	57	783										
SEPT9	10801	broad.mit.edu	37	chr17	75471732	75471732	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	gctccagtgtgcattgttacGaggcaaagtaaggagactgc	13	8	0	1	rs369276902		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr17:75471732G>A	ENST00000427177.1	+	4	847				SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000541152.2_Intron|RP11-75C10.9_ENST00000591110.1_RNA|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000427180.1_Silent_p.T44T|SEPT9_ENST00000449803.2_Intron	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9						cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GCATTGTTACGAGGCAAAGTA	0.667																																						ENST00000427180.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16						c.(130-132)acG>acA		septin 9							33	35	35					17																	75471732		1568	3582	5150	SO:0001627	intron_variant	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	g.chr17:75471732G>A	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"Septins"	7323	protein-coding gene	gene with protein product	"Ov/Br septin"	604061	"MLL septin-like fusion"	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.722-6494G>A	17.37:g.75471732G>A			Somatic				SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000591088.1_Intron	p.T44T	NM_001113495.1	NP_001106967.1	WXS	Illumina GAIIx	Phase_I	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		1	408	+			235					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Silent	SNP	ENST00000427177.1	37	c.132G>A	CCDS45790.1																																																																																				0.667	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		7	17	0	0	0	1	0	7	17					A	75471732	G	A	75471732	1	1	11	0	1	0	0	0	0	0	0	0	14086	1045	37	1		1	SEPT9	17	75471732	Intron	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08	32992956	75471732	5723478	58	784										
DTNA	1837	broad.mit.edu	37	chr18	32459673	32459673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	gagctaccacaagtaccatgCgtggcgacatgtgagtatct	11	10	1	1	rs368868084		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr18:32459673C>T	ENST00000399113.3	+	19	2071	c.2071C>T	c.(2071-2073)Cgt>Tgt	p.R691C	DTNA_ENST00000399121.5_Missense_Mutation_p.R638C|DTNA_ENST00000598142.1_Missense_Mutation_p.R634C|DTNA_ENST00000598334.1_Missense_Mutation_p.R631C|DTNA_ENST00000269192.7_Missense_Mutation_p.R400C|DTNA_ENST00000283365.9_Missense_Mutation_p.R634C|DTNA_ENST00000591182.1_Missense_Mutation_p.R339C|DTNA_ENST00000595022.1_Missense_Mutation_p.R631C|DTNA_ENST00000601125.1_Missense_Mutation_p.R313C|DTNA_ENST00000590831.2_Missense_Mutation_p.R117C|DTNA_ENST00000399097.3_Missense_Mutation_p.R339C|DTNA_ENST00000269190.7_Missense_Mutation_p.R692C|DTNA_ENST00000444659.1_Missense_Mutation_p.R691C|DTNA_ENST00000556414.3_Missense_Mutation_p.R343C			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	691					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)	p.R339C(1)|p.R691C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AAGTACCATGCGTGGCGACAT	0.433																																						ENST00000283365.9																			2	Substitution - Missense(2)	p.R339C(1)|p.R691C(1)	large_intestine(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1900-1902)Cgt>Tgt		dystrobrevin, alpha							66	60	62					18																	32459673		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.chr18:32459673C>T	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.2071C>T	18.37:g.32459673C>T	ENSP00000382064:p.Arg691Cys		Somatic				DTNA_ENST00000595022.1_Missense_Mutation_p.R631C|DTNA_ENST00000444659.1_Missense_Mutation_p.R691C|DTNA_ENST00000598334.1_Missense_Mutation_p.R631C|DTNA_ENST00000269192.7_Missense_Mutation_p.R400C|DTNA_ENST00000598142.1_Missense_Mutation_p.R634C|DTNA_ENST00000591182.1_Missense_Mutation_p.R339C|DTNA_ENST00000601125.1_Missense_Mutation_p.R313C|DTNA_ENST00000399113.3_Missense_Mutation_p.R691C|DTNA_ENST00000399121.5_Missense_Mutation_p.R638C|DTNA_ENST00000590831.2_Missense_Mutation_p.R117C|DTNA_ENST00000269190.7_Missense_Mutation_p.R692C|DTNA_ENST00000556414.3_Missense_Mutation_p.R343C|DTNA_ENST00000399097.3_Missense_Mutation_p.R339C	p.R634C	NM_032975.3	NP_116757.2	WXS	Illumina GAIIx	Phase_I	Q9Y4J8	DTNA_HUMAN			19	2251	+			691					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.1900C>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887499	0.52014	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000399121;ENST00000444659;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T	0.19938	2.12;2.11;2.12;2.12	5.12	5.12	0.69794	.	0.294672	0.34725	N	0.003727	T	0.27241	0.0668	N	0.19112	0.55	0.41755	D	0.989684	D;D;D;D;D;D;D;D;D	0.71674	0.995;0.992;0.966;0.986;0.997;0.998;0.988;0.988;0.993	P;P;B;P;P;P;B;B;P	0.55824	0.707;0.785;0.258;0.614;0.656;0.768;0.265;0.265;0.453	T	0.05716	-1.0868	10	0.72032	D	0.01	-4.3178	17.0969	0.86637	0.0:1.0:0.0:0.0	.	343;400;381;691;634;339;638;642;634	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8;F5H5C1;Q9Y4J8-6;E9PEH8;Q59GK7;Q9Y4J8-2	.;.;.;DTNA_HUMAN;.;.;.;.;.	C	634;634;638;692;339;691;691;691;400;339;343	ENSP00000283365:R634C;ENSP00000269190:R692C;ENSP00000405819:R691C;ENSP00000382064:R691C	ENSP00000269190:R692C	R	+	1	0	DTNA	30713671	1.000000	0.71417	0.950000	0.38849	0.077000	0.17291	5.523000	0.67099	2.545000	0.85829	0.655000	0.94253	CGT		0.433	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		4	23	0	0	0	1	0	4	23					T	32459673	C	T	32459673	3	4	11	1	0	0	0	0	1	0	0	0	4790	768	27	1	2235	1	DTNA	18	32459673	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08		32459673	45617575	59	785										
C19orf70	125988	broad.mit.edu	37	chr19	5679659	5679659	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	gaactggtacatggcgggggGgaccacctccccagccttct	13	14	1	0			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:5679659G>T	ENST00000309324.4	-	2	554	c.145C>A	c.(145-147)Ccc>Acc	p.P49T	HSD11B1L_ENST00000339423.2_5'Flank|HSD11B1L_ENST00000581521.1_5'Flank|HSD11B1L_ENST00000342970.2_5'Flank|HSD11B1L_ENST00000422535.2_5'Flank|C19orf70_ENST00000590389.1_Missense_Mutation_p.P71T|C19orf70_ENST00000587950.1_Missense_Mutation_p.P71T|HSD11B1L_ENST00000581893.1_5'Flank|HSD11B1L_ENST00000411793.2_5'Flank|HSD11B1L_ENST00000577917.1_5'Flank|RPL36_ENST00000579649.1_Intron|C19orf70_ENST00000587589.1_Missense_Mutation_p.P49T|RPL36_ENST00000577222.1_5'Flank|HSD11B1L_ENST00000583928.1_5'Flank|HSD11B1L_ENST00000423665.2_5'Flank|HSD11B1L_ENST00000301382.4_5'Flank|C19orf70_ENST00000585605.1_5'UTR|HSD11B1L_ENST00000581773.1_5'Flank	NM_205767.1	NP_991330.1	Q5XKP0	QIL1_HUMAN	chromosome 19 open reading frame 70	49						mitochondrion (GO:0005739)				endometrium(1)|lung(1)	2						ATGGCGGGGGGGACCACCTCC	0.657																																						ENST00000309324.4																			0				endometrium(1)|lung(1)	2						c.(145-147)Ccc>Acc		chromosome 19 open reading frame 70							47	44	45					19																	5679659		2203	4299	6502	SO:0001583	missense	125988						protein binding	g.chr19:5679659G>T	BC009557	CCDS12143.1	19p13.3	2012-10-26			ENSG00000174917	ENSG00000174917			33702	protein-coding gene	gene with protein product						14702039, 17353931	Standard	NM_205767		Approved	QIL1, P117	uc002mch.1	Q5XKP0		ENST00000309324.4:c.145C>A	19.37:g.5679659G>T	ENSP00000309561:p.Pro49Thr		Somatic				C19orf70_ENST00000587950.1_Missense_Mutation_p.P71T|C19orf70_ENST00000585605.1_5'UTR|C19orf70_ENST00000590389.1_Missense_Mutation_p.P71T|RPL36_ENST00000579649.1_Intron|C19orf70_ENST00000587589.1_Missense_Mutation_p.P49T	p.P49T	NM_205767.1	NP_991330.1	WXS	Illumina GAIIx	Phase_I	Q5XKP0	QIL1_HUMAN			2	554	-			49					Q86YE5	Missense_Mutation	SNP	ENST00000309324.4	37	c.145C>A	CCDS12143.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321230	0.41096	.	.	ENSG00000174917	ENST00000309324	T	0.27557	1.66	4.74	3.66	0.41972	.	0.085818	0.45867	N	0.000334	T	0.33556	0.0867	M	0.71581	2.175	0.39686	D	0.97097	P	0.36144	0.539	B	0.36134	0.218	T	0.30966	-0.9960	10	0.72032	D	0.01	-15.7895	11.0864	0.48089	0.0:0.0:0.8139:0.186	.	49	Q5XKP0	QIL1_HUMAN	T	49	ENSP00000309561:P49T	ENSP00000309561:P49T	P	-	1	0	C19orf70	5630659	1.000000	0.71417	0.017000	0.16124	0.031000	0.12232	5.193000	0.65120	0.920000	0.36970	0.462000	0.41574	CCC		0.657	C19orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451656.1	NM_205767		10	22	1	0	2.17888e-05	1	2.42345e-05	10	22					T	5679659	G	T	5679659	3	4	11	1	0	0	0	0	1	0	0	0	1949	1232	43	5	223	5	C19orf70	19	5679659	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08		5679659	53449324	60	786										
RPS28	6234	broad.mit.edu	37	chr19	8386953	8386953	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	gagcgagaagcccggaggttGcgctgagcttggctgctcgc	17	11	0	2	rs368264615		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:8386953G>C	ENST00000600659.2	+	3	235	c.204G>C	c.(202-204)ttG>ttC	p.L68F	NDUFA7_ENST00000301457.2_5'Flank|NDUFA7_ENST00000598884.1_5'Flank	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28	68					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 small subunit biogenesis (GO:0042274)|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 small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)										CCCGGAGGTTGCGCTGAGCTT	0.602																																						ENST00000600659.2																			0											c.(202-204)ttG>ttC		ribosomal protein S28							17	17	17					19																	8386953		1998	4161	6159	SO:0001583	missense	6234				endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr19:8386953G>C	D14530	CCDS45953.1	19p13.2	2011-04-06				ENSG00000233927		"S ribosomal proteins"	10418	protein-coding gene	gene with protein product	"40S ribosomal protein S28"	603685				8415000, 9582194	Standard	NM_001031		Approved	S28	uc002mjn.3	P62857		ENST00000600659.2:c.204G>C	19.37:g.8386953G>C	ENSP00000472469:p.Leu68Phe		Somatic					p.L68F	NM_001031.4	NP_001022.1	WXS	Illumina GAIIx	Phase_I	P62857	RS28_HUMAN			3	235	+			68					P25112	Missense_Mutation	SNP	ENST00000600659.2	37	c.204G>C	CCDS45953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.87|16.87	3.243257|3.243257	0.58995|0.58995	.|.	.|.	ENSG00000233927|ENSG00000233927	ENST00000449223|ENST00000417088	.|.	.|.	.|.	5.22|5.22	1.95|1.95	0.26073|0.26073	.|Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.|.	.|.	.|.	.|.	T|T	0.55449|0.55449	0.1921|0.1921	.|.	.|.	.|.	0.24688|0.24688	N|N	0.993322|0.993322	.|D	.|0.63880	.|0.993	.|D	.|0.68943	.|0.961	T|T	0.41395|0.41395	-0.9511|-0.9511	5|7	0.87932|0.87932	D|D	0|0	.|.	4.9746|4.9746	0.14135|0.14135	0.2309:0.0:0.6213:0.1478|0.2309:0.0:0.6213:0.1478	.|.	.|68	.|P62857	.|RS28_HUMAN	P|F	82|68	.|.	ENSP00000415944:A82P|ENSP00000397872:L68F	A|L	+|+	1|3	0|2	RPS28|RPS28	8292953|8292953	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.845000|0.845000	0.48019|0.48019	0.319000|0.319000	0.19522|0.19522	0.375000|0.375000	0.24679|0.24679	-0.733000|-0.733000	0.03571|0.03571	GCG|TTG		0.602	RPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461377.3	NM_001031		4	8	0	0	0	1	0	4	8					C	8386953	G	C	8386953	3	2	11	1	0	0	0	0	1	0	0	0	13656	1310	46	5	214	5	RPS28	19	8386953	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08	2707294	8386953	50742030	61	787										
NWD1	284434	broad.mit.edu	37	chr19	16870140	16870140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	gcccagcaaggagctgctgcGcttcccgcccctgctgtggg	14	16	0	0			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:16870140G>A	ENST00000552788.1	+	5	1874	c.1874G>A	c.(1873-1875)cGc>cAc	p.R625H	NWD1_ENST00000379808.3_Missense_Mutation_p.R625H|NWD1_ENST00000339803.6_Missense_Mutation_p.R490H|NWD1_ENST00000524140.2_Missense_Mutation_p.R625H|NWD1_ENST00000549814.1_Missense_Mutation_p.R625H|NWD1_ENST00000523826.1_Missense_Mutation_p.R419H			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	625	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						GAGCTGCTGCGCTTCCCGCCC	0.652																																						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.(1873-1875)cGc>cAc		NACHT and WD repeat domain containing 1							60	46	51					19																	16870140		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16870140G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1874G>A	19.37:g.16870140G>A	ENSP00000447224:p.Arg625His		Somatic				NWD1_ENST00000552788.1_Missense_Mutation_p.R625H|NWD1_ENST00000549814.1_Missense_Mutation_p.R625H|NWD1_ENST00000523826.1_Missense_Mutation_p.R419H|NWD1_ENST00000379808.3_Missense_Mutation_p.R625H|NWD1_ENST00000339803.6_Missense_Mutation_p.R490H	p.R625H	NM_001007525.3	NP_001007526.3	WXS	Illumina GAIIx	Phase_I	Q149M9	NWD1_HUMAN			7	2292	+			625			NACHT.		C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.1874G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.470681	0.84533	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.64991	-0.13;-0.07;-0.13;-0.13;-0.09;-0.09	4.44	4.44	0.53790	.	0.136414	0.47852	D	0.000210	T	0.81465	0.4828	M	0.90198	3.095	0.46774	D	0.999193	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.996	D	0.85180	0.1003	10	0.72032	D	0.01	-25.0446	12.5617	0.56286	0.0:0.0:1.0:0.0	.	625;625;490	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	H	490;625;625;625;419;625;490	ENSP00000428579:R625H;ENSP00000447548:R625H;ENSP00000369136:R625H;ENSP00000428955:R419H;ENSP00000447224:R625H;ENSP00000340159:R490H	ENSP00000340159:R490H	R	+	2	0	NWD1	16731140	1.000000	0.71417	0.934000	0.37439	0.791000	0.44710	6.038000	0.70964	2.044000	0.60594	0.542000	0.68232	CGC		0.652	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		10	30	0	0	0	1	0	10	30					A	16870140	G	A	16870140	3	1	11	1	0	0	0	0	1	0	0	0	10790	1087	38	1	1479	1	NWD1	19	16870140	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08	8483187	16870140	42258843	62	788										
ZNF585A	199704	broad.mit.edu	37	chr19	37647149	37647149	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	acctactgagagcaggtggcTgtaggtctccagcatcacat	11	11	2	1			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:37647149T>C	ENST00000356958.4	-	3	439	c.181A>G	c.(181-183)Agc>Ggc	p.S61G	ZNF585A_ENST00000392157.2_Missense_Mutation_p.S6G|ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000355533.2_Missense_Mutation_p.S6G|ZNF585A_ENST00000292841.5_Missense_Mutation_p.S6G			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	61	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)			AGCAGGTGGCTGTAGGTCTCC	0.522																																						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.(181-183)Agc>Ggc		zinc finger protein 585A							101	83	89					19																	37647149		2203	4298	6501	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37647149T>C	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.181A>G	19.37:g.37647149T>C	ENSP00000349440:p.Ser61Gly		Somatic				ZNF585A_ENST00000392157.2_Missense_Mutation_p.S6G|ZNF585A_ENST00000292841.5_Missense_Mutation_p.S6G|ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000355533.2_Missense_Mutation_p.S6G	p.S61G			WXS	Illumina GAIIx	Phase_I	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	439	-			61			KRAB.		Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.181A>G		.	.	.	.	.	.	.	.	.	.	T	14.30	2.493046	0.44352	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.08458	4.5;3.16;3.16;3.09	3.63	1.23	0.21249	Krueppel-associated box (4);	0.500342	0.16933	N	0.193566	T	0.14657	0.0354	L	0.39326	1.205	0.09310	N	1	D	0.57257	0.979	D	0.71414	0.973	T	0.16070	-1.0415	10	0.23302	T	0.38	.	7.5613	0.27853	0.0:0.0:0.4317:0.5683	.	61	Q6P3V2	Z585A_HUMAN	G	61;6;6;6	ENSP00000349440:S61G;ENSP00000292841:S6G;ENSP00000375998:S6G;ENSP00000347724:S6G	ENSP00000292841:S6G	S	-	1	0	ZNF585A	42338989	0.001000	0.12720	0.702000	0.30337	0.897000	0.52465	-0.216000	0.09266	0.427000	0.26145	0.533000	0.62120	AGC		0.522	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		10	30	0	0	0	1	0	10	30					C	37647149	T	C	37647149	3	2	11	1	0	0	0	0	1	0	0	0	18032	1580	55	4	2140	4	ZNF585A	19	37647149	Missense_Mutation	SNP	T	TCGA-N5-A4RU-01A-31D-A28R-08	20777009	37647149	21481834	63	789										
SAMD4B	55095	broad.mit.edu	37	chr19	39868449	39868449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	acatccccagccagtttacaCgggtgatgggcaaaggtgag	13	10	0	2			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:39868449C>T	ENST00000314471.6	+	10	2464	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.R477W	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	477					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)			CCAGTTTACACGGGTGATGGG	0.592																																						ENST00000314471.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15						c.(1429-1431)Cgg>Tgg		sterile alpha motif domain containing 4B							32	32	32					19																	39868449		2196	4283	6479	SO:0001583	missense	55095						protein binding	g.chr19:39868449C>T		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.1429C>T	19.37:g.39868449C>T	ENSP00000317224:p.Arg477Trp		Somatic				SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.R477W	p.R477W	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)		10	2464	+	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)		477					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.1429C>T	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895525	0.72639	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	4.72	4.72	0.59763	Smaug, pseudo-HEAT analogous topology (1);	0.000000	0.85682	D	0.000000	T	0.75140	0.3809	M	0.72894	2.215	0.48185	D	0.999601	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.77427	-0.2592	9	0.87932	D	0	.	10.2994	0.43644	0.1966:0.8034:0.0:0.0	.	477;477	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	W	477	.	ENSP00000317224:R477W	R	+	1	2	SAMD4B	44560289	0.986000	0.35501	1.000000	0.80357	0.996000	0.88848	1.280000	0.33202	2.449000	0.82847	0.467000	0.42956	CGG		0.592	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		5	53	0	0	0	1	0	5	53					T	39868449	C	T	39868449	3	4	11	1	0	0	0	0	1	0	0	0	13837	527	19	1	1451	1	SAMD4B	19	39868449	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	2221300	39868449	19260534	64	790										
ZNF780A	284323	broad.mit.edu	37	chr19	40580527	40580527	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	ttcaaagggtttctcaccagTatgcaatttctgatgtcgaa	8	8	3	1			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:40580527T>G	ENST00000595687.2	-	6	2031	c.1822A>C	c.(1822-1824)Act>Cct	p.T608P	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000450241.2_Missense_Mutation_p.T574P|ZNF780A_ENST00000340963.5_Missense_Mutation_p.T608P|ZNF780A_ENST00000455521.1_Missense_Mutation_p.T609P|ZNF780A_ENST00000594395.1_Missense_Mutation_p.T609P|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTCTCACCAGTATGCAATTTC	0.413																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1720-1722)Act>Cct		zinc finger protein 780A							131	130	130					19																	40580527		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580527T>G	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1822A>C	19.37:g.40580527T>G	ENSP00000472189:p.Thr608Pro		Somatic				ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.T608P|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.T609P|ZNF780A_ENST00000455521.1_Missense_Mutation_p.T609P|ZNF780A_ENST00000340963.5_Missense_Mutation_p.T608P	p.T574P			WXS	Illumina GAIIx	Phase_I	O75290	Z780A_HUMAN			6	2031	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		608					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1720A>C	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	t	15.94	2.982249	0.53827	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.25749	1.78;1.78	1.93	0.74	0.18330	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38295	0.1035	M	0.79475	2.455	0.24595	N	0.993803	P;P	0.44627	0.839;0.81	P;P	0.52424	0.56;0.698	T	0.25082	-1.0142	9	0.87932	D	0	.	4.9174	0.13853	0.2859:0.0:0.0:0.7141	.	609;608	E9PB48;O75290	.;Z780A_HUMAN	P	608;609;608	ENSP00000400997:T609P;ENSP00000341507:T608P	ENSP00000341507:T608P	T	-	1	0	ZNF780A	45272367	0.022000	0.18835	0.052000	0.19188	0.545000	0.35147	1.123000	0.31308	-0.026000	0.13895	0.260000	0.18958	ACT		0.413	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		7	76	0	0	0	1	0	7	76					G	40580527	T	G	40580527	3	3	11	1	0	0	0	0	1	0	0	0	18167	1638	57	4	234	4	ZNF780A	19	40580527	Missense_Mutation	SNP	T	TCGA-N5-A4RU-01A-31D-A28R-08	712078	40580527	18548456	65	791										
CEACAM5	1048	broad.mit.edu	37	chr19	42223865	42223865	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	acagcggagctgcccaagccCtccatctccagcaacaactc	7	18	1	0			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:42223865C>G	ENST00000221992.6	+	7	1623	c.1509C>G	c.(1507-1509)ccC>ccG	p.P503P	CEACAM5_ENST00000398599.4_Silent_p.P502P|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.P503P	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	503	Ig-like 6.				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)		TGCCCAAGCCCTCCATCTCCA	0.532																																						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.(1507-1509)ccC>ccG		carcinoembryonic antigen-related cell adhesion molecule 5							115	109	111					19																	42223865		2203	4297	6500	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42223865C>G	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.1509C>G	19.37:g.42223865C>G			Somatic				CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.P503P|CEACAM5_ENST00000398599.4_Silent_p.P502P	p.P503P	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)	7	1623	+			503			Ig-like 6.		H9KVA7	Silent	SNP	ENST00000221992.6	37	c.1509C>G	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	C	0.988	-0.695003	0.03303	.	.	ENSG00000105388	ENST00000398599	T	0.00873	5.59	2.53	0.323	0.15893	.	.	.	.	.	T	0.00845	0.0028	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.49679	-0.8914	5	.	.	.	.	5.216	0.15342	0.0:0.7295:0.0:0.2705	.	.	.	.	V	499	ENSP00000381600:L499V	.	L	+	1	0	CEACAM5	46915705	0.018000	0.18449	0.002000	0.10522	0.027000	0.11550	0.173000	0.16724	0.142000	0.18901	0.404000	0.27445	CTC		0.532	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		23	127	0	0	0	1	0	23	127					G	42223865	C	G	42223865	2	3	11	1	0	0	0	0	0	0	0	1	3197	668	24	5		5	CEACAM5	19	42223865	Silent	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	1643338	42223865	16905118	66	792										
SCAF1	58506	broad.mit.edu	37	chr19	50154615	50154615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	gacgagagcccccgcccggaCgcgcagcccacacagccgac	12	20	0	1	rs372506690		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:50154615C>T	ENST00000360565.3	+	7	1093	c.969C>T	c.(967-969)gaC>gaT	p.D323D		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	323					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)		CCCGCCCGGACGCGCAGCCCA	0.697													C|||	1	0.000199681	0	0	5008	,	,		7646	0.001		0	False		,,,				2504	0					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.(967-969)gaC>gaT		SR-related CTD-associated factor 1							18	19	19					19																	50154615		2198	4295	6493	SO:0001819	synonymous_variant	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50154615C>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.969C>T	19.37:g.50154615C>T			Somatic					p.D323D	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	1093	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	323					Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	c.969C>T	CCDS33074.1																																																																																				0.697	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		13	8	0	0	0	1	0	13	8					T	50154615	C	T	50154615	2	4	11	1	0	0	0	0	0	0	0	1	13883	535	19	1		1	SCAF1	19	50154615	Silent	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	7930750	50154615	8974368	67	793										
PPP2R1A	5518	broad.mit.edu	37	chr19	52715971	52715971	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	cctgtgctcagatgacacccCcatggtgcggcgggccgcag	14	15	1	2			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:52715971C>T	ENST00000322088.6	+	5	594	c.536C>T	c.(535-537)cCc>cTc	p.P179L	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124L|PPP2R1A_ENST00000462990.1_5'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.P179R(21)|p.P179L(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		26	Substitution - Missense(26)	p.P179R(21)|p.P179L(5)	endometrium(25)|ovary(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(535-537)cCc>cTc		protein phosphatase 2, regulatory subunit A, alpha							61	52	55					19																	52715971		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715971C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.536C>T	19.37:g.52715971C>T	ENSP00000324804:p.Pro179Leu		Somatic				PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124L	p.P179L	NM_014225.5	NP_055040.2	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	594	+			179			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.536C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833937	0.91036	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.16457	2.34;2.34	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.092820	0.45867	N	0.000326	T	0.46328	0.1387	M	0.87617	2.895	0.80722	D	1	D;P;P	0.76494	0.999;0.945;0.945	D;P;P	0.70935	0.971;0.681;0.681	T	0.54125	-0.8340	10	0.66056	D	0.02	-22.0504	15.1189	0.72426	0.0:1.0:0.0:0.0	.	124;179;179	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	L	169;99;179;124	ENSP00000324804:P179L;ENSP00000415067:P124L	ENSP00000324804:P179L	P	+	2	0	PPP2R1A	57407783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.760000	0.74939	2.503000	0.84419	0.655000	0.94253	CCC		0.612	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		42	7	0	0	0	1	0	42	7					T	52715971	C	T	52715971	3	4	11	1	0	0	0	0	1	0	0	0	12394	623	22	3	554	3	PPP2R1A	19	52715971	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	2561356	52715971	6413012	68	794										
PPP2R1A	5518	broad.mit.edu	37	chr19	52719088	52719088	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	gacctggtccctgccttccaGaacctgatgaaagactgtga	10	12	0	5			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:52719088G>T	ENST00000322088.6	+	7	922	c.864G>T	c.(862-864)caG>caT	p.Q288H	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q233H|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q109H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	288	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ctgccttccagaacCTGATGA	0.612			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(862-864)caG>caT		protein phosphatase 2, regulatory subunit A, alpha							69	65	67					19																	52719088		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52719088G>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.864G>T	19.37:g.52719088G>T	ENSP00000324804:p.Gln288His		Somatic				PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q109H|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q233H	p.Q288H	NM_014225.5	NP_055040.2	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	7	922	+			288			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.864G>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464481	0.43736	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06371	3.31;3.31	4.67	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000013	T	0.08044	0.0201	M	0.67953	2.075	0.54753	D	0.99998	B;B;B	0.28439	0.212;0.039;0.039	B;B;B	0.25987	0.065;0.018;0.018	T	0.09997	-1.0649	10	0.42905	T	0.14	-12.9349	7.338	0.26621	0.1931:0.0:0.8069:0.0	.	233;288;288	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	H	278;208;288;233	ENSP00000324804:Q288H;ENSP00000415067:Q233H	ENSP00000324804:Q288H	Q	+	3	2	PPP2R1A	57410900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.799000	0.62517	1.336000	0.45506	0.655000	0.94253	CAG		0.612	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		16	60	1	0	4.7546e-09	1	5.51332e-09	16	60					T	52719088	G	T	52719088	3	4	11	1	0	0	0	0	1	0	0	0	12394	933	33	2	890	2	PPP2R1A	19	52719088	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08	3117	52719088	6409895	69	795										
TMPRSS15	5651	broad.mit.edu	37	chr21	19685352	19685352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	atatgctctggattctgaacCgcactaaaccattgttgttc	7	10	2	1	rs375777008		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:19685352C>T	ENST00000284885.3	-	18	2108	c.2075G>A	c.(2074-2076)cGg>cAg	p.R692Q		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	692	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					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						GATTCTGAACCGCACTAAACC	0.448																																						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.(2074-2076)cGg>cAg		transmembrane protease, serine 15		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	144	129	134		2075	3.4	1	21		134	0,8600		0,0,4300	no	missense	TMPRSS15	NM_002772.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	692/1020	19685352	1,13005	2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19685352C>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.2075G>A	21.37:g.19685352C>T	ENSP00000284885:p.Arg692Gln		Somatic					p.R692Q	NM_002772.2	NP_002763.2	WXS	Illumina GAIIx	Phase_I	P98073	ENTK_HUMAN			18	2108	-			692			SRCR.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2075G>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	c	0.024	-1.393362	0.01185	2.27E-4	0.0	ENSG00000154646	ENST00000284885	T	0.26660	1.72	5.71	3.36	0.38483	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.070916	0.56097	N	0.000021	T	0.05135	0.0137	N	0.00104	-2.125	0.22982	N	0.998476	B	0.02656	0.0	B	0.01281	0.0	T	0.37079	-0.9721	9	.	.	.	.	11.9635	0.53021	0.0:0.0755:0.0:0.9245	.	692	P98073	ENTK_HUMAN	Q	692	ENSP00000284885:R692Q	.	R	-	2	0	TMPRSS15	18607223	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	2.271000	0.43364	0.458000	0.26988	-0.960000	0.02634	CGG		0.448	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		7	32	0	0	0	1	0	7	32					T	19685352	C	T	19685352	3	4	11	1	0	0	0	0	1	0	0	0	16261	652	23	1	1016	1	TMPRSS15	21	19685352	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08		19685352	28444543	70	796										
B3GALT5	10317	broad.mit.edu	37	chr21	41033136	41033136	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	cccaccattctgctccggcaCcggctacgtgttttctggcg	10	16	2	0			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:41033136C>G	ENST00000380620.4	+	5	1242	c.650C>G	c.(649-651)aCc>aGc	p.T217S	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Missense_Mutation_p.T217S|B3GALT5_ENST00000398714.2_Missense_Mutation_p.T217S|B3GALT5_ENST00000380618.1_Missense_Mutation_p.T217S			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	217					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TGCTCCGGCACCGGCTACGTG	0.512																																						ENST00000380620.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16						c.(649-651)aCc>aGc		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5							76	76	76					21																	41033136		2203	4300	6503	SO:0001583	missense	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41033136C>G	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"Beta 3-glycosyltransferases"	920	protein-coding gene	gene with protein product	"homolog of C. elegans Bt toxin resistance gene bre-5", "GlcNAc-beta-1,3-galactosyltransferase 5"	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.650C>G	21.37:g.41033136C>G	ENSP00000369994:p.Thr217Ser		Somatic				AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Missense_Mutation_p.T217S|B3GALT5_ENST00000343118.4_Missense_Mutation_p.T217S|B3GALT5_ENST00000398714.2_Missense_Mutation_p.T217S	p.T217S			WXS	Illumina GAIIx	Phase_I	Q9Y2C3	B3GT5_HUMAN			5	1242	+		Prostate(19;2.55e-06)	217					A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	c.650C>G	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044579	0.55110	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.41	4.53	0.55603	.	0.000000	0.64402	D	0.000012	D	0.87912	0.6297	L	0.60012	1.86	0.46499	D	0.999074	D	0.89917	1.0	D	0.75020	0.985	D	0.85259	0.1049	10	0.21014	T	0.42	.	14.406	0.67083	0.0:0.9285:0.0:0.0715	.	217	Q9Y2C3	B3GT5_HUMAN	S	217	ENSP00000369994:T217S;ENSP00000369992:T217S;ENSP00000343318:T217S;ENSP00000381699:T217S	ENSP00000343318:T217S	T	+	2	0	B3GALT5	39955006	1.000000	0.71417	0.450000	0.26969	0.010000	0.07245	5.904000	0.69886	1.290000	0.44636	0.655000	0.94253	ACC		0.512	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		33	38	0	0	0	1	0	33	38					G	41033136	C	G	41033136	3	3	11	1	0	0	0	0	1	0	0	0	1250	507	18	5	652	5	B3GALT5	21	41033136	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	21347784	41033136	7096759	71	797										
SLC5A1	6523	broad.mit.edu	37	chr22	32480588	32480588	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	cctcacgggagacctcccatGgcctgggttcatctttggga	12	13	3	1			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr22:32480588G>T	ENST00000266088.4	+	8	1077	c.827G>T	c.(826-828)tGg>tTg	p.W276L	SLC5A1_ENST00000543737.1_Missense_Mutation_p.W149L	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	276					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GACCTCCCATGGCCTGGGTTC	0.537																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37	GRCh37	CM961325	SLC5A1	M		c.(826-828)tGg>tTg		solute carrier family 5 (sodium/glucose cotransporter), member 1							104	95	98					22																	32480588		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32480588G>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.827G>T	22.37:g.32480588G>T	ENSP00000266088:p.Trp276Leu		Somatic				SLC5A1_ENST00000543737.1_Missense_Mutation_p.W149L	p.W276L	NM_000343.3	NP_000334.1	WXS	Illumina GAIIx	Phase_I	P13866	SC5A1_HUMAN			8	1077	+			276					B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.827G>T	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411853	0.62511	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.89746	-2.56;-2.56	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.92838	0.7722	M	0.86097	2.795	0.80722	D	1	P	0.51057	0.941	P	0.50825	0.651	D	0.94207	0.7455	10	0.87932	D	0	.	17.4609	0.87620	0.0:0.0:1.0:0.0	.	276	P13866	SC5A1_HUMAN	L	276;149	ENSP00000266088:W276L;ENSP00000444898:W149L	ENSP00000266088:W276L	W	+	2	0	SLC5A1	30810588	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	9.582000	0.98214	2.432000	0.82394	0.491000	0.48974	TGG		0.537	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		5	53	1	0	0.00116845	1	0.001261	5	53					T	32480588	G	T	32480588	3	4	11	1	0	0	0	0	1	0	0	0	14676	1357	47	5	857	5	SLC5A1	22	32480588	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08		32480588	18823978	72	798										
WDR13	64743	broad.mit.edu	37	chrX	48458098	48458098	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	gtttttgaccagcacgtggaTgaggcaggtgagccagtggg	17	7	0	3			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:48458098T>A	ENST00000218056.5	+	4	1021	c.516T>A	c.(514-516)gaT>gaA	p.D172E	WDR13_ENST00000492715.1_3'UTR|WDR13_ENST00000376729.5_Missense_Mutation_p.D172E	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	172						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						AGCACGTGGATGAGGCAGGTG	0.572																																						ENST00000218056.5																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						c.(514-516)gaT>gaA		WD repeat domain 13							85	73	77					X																	48458098		2203	4300	6503	SO:0001583	missense	64743					cytoplasm|nucleus		g.chrX:48458098T>A	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.516T>A	X.37:g.48458098T>A	ENSP00000218056:p.Asp172Glu		Somatic				WDR13_ENST00000492715.1_3'UTR	p.D172E	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	WXS	Illumina GAIIx	Phase_I	Q9H1Z4	WDR13_HUMAN			4	1021	+			172					Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	c.516T>A	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.963931	0.53507	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.72725	-0.68;-0.68	5.35	2.89	0.33648	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	L	0.54323	1.7	0.47778	D	0.999516	B;B	0.22480	0.07;0.033	B;B	0.22386	0.039;0.029	T	0.47947	-0.9077	10	0.25106	T	0.35	-8.3791	6.7233	0.23342	0.0:0.2843:0.0:0.7157	.	50;172	B4DVQ7;Q9H1Z4	.;WDR13_HUMAN	E	172	ENSP00000365919:D172E;ENSP00000218056:D172E	ENSP00000218056:D172E	D	+	3	2	WDR13	48343042	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.927000	0.28818	0.182000	0.20032	0.356000	0.21956	GAT		0.572	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			17	32	0	0	0	1	0	17	32					A	48458098	T	A	48458098	3	1	11	1	0	0	0	0	1	0	0	0	17290	1461	51	4	530	4	WDR13	23	48458098	Missense_Mutation	SNP	T	TCGA-N5-A4RU-01A-31D-A28R-08		48458098	106812462	73	799										
APEX2	27301	broad.mit.edu	37	chrX	55033376	55033379	+	Frame_Shift_Del	DEL	GACG	GACG	-													0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	agtcctgtgttggagcagtcGacgctgcagcacaacaatca							TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:55033376_55033379delGACG	ENST00000374987.3	+	6	1131_1134	c.1065_1068delGACG	c.(1063-1068)tcgacgfs	p.ST355fs	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	355					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)	p.T356T(1)		breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TGGAGCAGTCGACGCTGCAGCACA	0.569								Other BER factors																														ENST00000374987.3																			1	Substitution - coding silent(1)	p.T356T(1)	lung(1)	breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						c.(1063-1068)tcfs	Other BER factors	APEX nuclease (apurinic/apyrimidinic endonuclease) 2																																				SO:0001589	frameshift_variant	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55033376_55033379delGACG	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 2"	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.1065_1068delGACG	X.37:g.55033376_55033379delGACG	ENSP00000364126:p.Ser355fs		Somatic					p.ST355fs	NM_014481.2	NP_055296.2	WXS	Illumina GAIIx	Phase_I	Q9UBZ4	APEX2_HUMAN			6	1131_1134	+			355					Q9Y5X7	Frame_Shift_Del	DEL	ENST00000374987.3	37	c.1065_1068delGACG	CCDS14365.1																																																																																				0.569	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			14	52						14	52	---	---	---	---	-	55033379	GACG	-	55033376	7	5	11	1	0	1	0	1	0	0	0	0	770	1045	37	0	1087	0	APEX2	23	55033376	Frame_Shift_Del	DEL	GACG	TCGA-N5-A4RU-01A-31D-A28R-08	6575278	55033376	100237184	74	800										
MUM1L1	139221	broad.mit.edu	37	chrX	105451418	105451418	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	aggcagctgaagcaaagtatCtaaaaggaccatgtctaggc	11	8	2	1			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:105451418C>A	ENST00000357175.2	+	4	2642	c.1993C>A	c.(1993-1995)Cta>Ata	p.L665I	MUM1L1_ENST00000372552.1_Missense_Mutation_p.L665I|MUM1L1_ENST00000337685.2_Missense_Mutation_p.L665I	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	665						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGCAAAGTATCTAAAAGGACC	0.338																																						ENST00000337685.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1993-1995)Cta>Ata		melanoma associated antigen (mutated) 1-like 1																																				SO:0001583	missense	139221							g.chrX:105451418C>A	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1993C>A	X.37:g.105451418C>A	ENSP00000349699:p.Leu665Ile		Somatic				MUM1L1_ENST00000357175.2_Missense_Mutation_p.L665I|MUM1L1_ENST00000372552.1_Missense_Mutation_p.L665I	p.L665I	NM_152423.4	NP_689636.3	WXS	Illumina GAIIx	Phase_I	Q5H9M0	MUML1_HUMAN			5	2778	+			665					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.1993C>A	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	C	8.084	0.773081	0.16051	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.42131	0.98;0.98;0.98	4.51	2.61	0.31194	.	0.164753	0.27043	N	0.021220	T	0.26011	0.0634	L	0.28458	0.855	0.25023	N	0.991327	B	0.28713	0.22	B	0.31442	0.13	T	0.13308	-1.0514	10	0.16896	T	0.51	-47.8275	6.2106	0.20628	0.2153:0.5803:0.2045:0.0	.	665	Q5H9M0	MUML1_HUMAN	I	665	ENSP00000349699:L665I;ENSP00000338641:L665I;ENSP00000361632:L665I	ENSP00000338641:L665I	L	+	1	2	MUM1L1	105338074	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	1.988000	0.40697	1.042000	0.40150	-0.275000	0.10095	CTA		0.338	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		3	2	1	0	0.004672	1	0.00494416	3	2					A	105451418	C	A	105451418	3	1	11	1	0	0	0	0	1	0	0	0	9995	912	32	2	1995	2	MUM1L1	23	105451418	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	50418042	105451418	49819142	75	801										
GPC3	2719	broad.mit.edu	37	chrX	132888171	132888171	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	gaacatggcattggtgtagtTcttggcatggcgaacaacaa	12	7	1	0			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:132888171T>C	ENST00000370818.3	-	3	815	c.370A>G	c.(370-372)Aac>Gac	p.N124D	GPC3_ENST00000543339.1_Missense_Mutation_p.N70D|GPC3_ENST00000394299.2_Missense_Mutation_p.N124D	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	124					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)					TTGGTGTAGTTCTTGGCATGG	0.368			"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.(370-372)Aac>Gac		glypican 3							315	249	272					X																	132888171		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:132888171T>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.370A>G	X.37:g.132888171T>C	ENSP00000359854:p.Asn124Asp		Somatic				GPC3_ENST00000543339.1_Missense_Mutation_p.N70D|GPC3_ENST00000394299.2_Missense_Mutation_p.N124D	p.N124D	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	WXS	Illumina GAIIx	Phase_I	P51654	GPC3_HUMAN			3	815	-	Acute lymphoblastic leukemia(192;0.000127)		124					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.370A>G	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468841	0.63625	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.53857	0.6;0.6;0.6	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.71550	0.3353	M	0.74467	2.265	0.50632	D	0.999889	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.85130	0.992;0.997;0.992;0.992	T	0.75545	-0.3280	10	0.87932	D	0	.	13.3683	0.60698	0.0:0.0:0.0:1.0	.	108;70;124;124	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	D	124;124;70	ENSP00000359854:N124D;ENSP00000377836:N124D;ENSP00000444222:N70D	ENSP00000359854:N124D	N	-	1	0	GPC3	132715837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.500000	0.81588	1.751000	0.51876	0.437000	0.28790	AAC		0.368	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		50	86	0	0	0	1	0	50	86					C	132888171	T	C	132888171	3	2	11	1	0	0	0	0	1	0	0	0	6607	1783	62	4	1469	4	GPC3	23	132888171	Missense_Mutation	SNP	T	TCGA-N5-A4RU-01A-31D-A28R-08	27436753	132888171	22382389	76	802										
PLXNA3	55558	broad.mit.edu	37	chrX	153692521	153692521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	tgaccgtcaccctgcacaacGtgccagacctcagtgcgggc	11	16	2	2			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:153692521G>A	ENST00000369682.3	+	8	1868	c.1693G>A	c.(1693-1695)Gtg>Atg	p.V565M		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	565					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGCACAACGTGCCAGACCT	0.697																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(1693-1695)Gtg>Atg		plexin A3							36	28	30					X																	153692521		2200	4296	6496	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153692521G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1693G>A	X.37:g.153692521G>A	ENSP00000358696:p.Val565Met		Somatic					p.V565M	NM_017514.3	NP_059984.2	WXS	Illumina GAIIx	Phase_I	P51805	PLXA3_HUMAN			8	1868	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		565					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.1693G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870865	0.51695	.	.	ENSG00000130827	ENST00000369682	T	0.01059	5.39	5.37	5.37	0.77165	.	0.216488	0.38164	N	0.001790	T	0.04137	0.0115	M	0.75615	2.305	0.80722	D	1	D	0.58620	0.983	P	0.49999	0.628	T	0.32561	-0.9902	10	0.72032	D	0.01	.	16.8103	0.85717	0.0:0.0:1.0:0.0	.	565	P51805	PLXA3_HUMAN	M	565	ENSP00000358696:V565M	ENSP00000358696:V565M	V	+	1	0	PLXNA3	153345715	1.000000	0.71417	0.931000	0.37212	0.006000	0.05464	7.446000	0.80609	2.230000	0.72887	0.597000	0.82753	GTG		0.697	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		24	16	0	0	0	1	0	24	16					A	153692521	G	A	153692521	3	1	11	1	0	0	0	0	1	0	0	0	12130	1145	40	1	1719	1	PLXNA3	23	153692521	Missense_Mutation	SNP	G	TCGA-N5-A4RU-01A-31D-A28R-08	20804350	153692521	1578039	77	803										
F8	2157	broad.mit.edu	37	chrX	154185347	154185347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	agtaatagcgggtcaggcacCgaggatctgatttagttggc	14	7	2	1	rs375945299		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:154185347C>T	ENST00000360256.4	-	11	1837	c.1637G>A	c.(1636-1638)cGg>cAg	p.R546Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	546	F5/8 type A 2.|Plastocyanin-like 3.		R -> W (in HEMA; mild; dbSNP:rs28937277). {ECO:0000269|PubMed:10404764, ECO:0000269|PubMed:11748850, ECO:0000269|PubMed:12871415, ECO:0000269|PubMed:7794769, ECO:0000269|PubMed:8449505, ECO:0000269|PubMed:9029040, ECO:0000269|PubMed:9886318}.		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)	GGTCAGGCACCGAGGATCTGA	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.(1636-1638)cGg>cAg		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	C	GLN/ARG	2,3833		0,2,1630,571	213	187	196		1637	3.3	0.8	X		196	0,6728		0,0,2428,1872	no	missense	F8	NM_000132.3	43	0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189	probably-damaging	546/2352	154185347	2,10561	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:154185347C>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.1637G>A	X.37:g.154185347C>T	ENSP00000353393:p.Arg546Gln		Somatic					p.R546Q	NM_000132.3	NP_000123.1	WXS	Illumina GAIIx	Phase_I	P00451	FA8_HUMAN			11	1837	-	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)		546		R -> W (in HEMA; mild; dbSNP:rs28937277).	F5/8 type A 2.|Plastocyanin-like 3.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.1637G>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822460	0.50739	5.22E-4	0.0	ENSG00000185010	ENST00000360256	D	0.98512	-4.97	5.19	3.34	0.38264	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.327394	0.33419	N	0.004926	D	0.96632	0.8901	N	0.13299	0.325	0.23859	N	0.996647	D	0.89917	1.0	D	0.77004	0.989	D	0.91388	0.5133	10	0.26408	T	0.33	-10.9439	8.7791	0.34781	0.0:0.766:0.1471:0.0868	.	546	P00451	FA8_HUMAN	Q	546	ENSP00000353393:R546Q	ENSP00000353393:R546Q	R	-	2	0	F8	153838541	0.128000	0.22383	0.806000	0.32338	0.493000	0.33554	0.565000	0.23578	0.971000	0.38288	0.600000	0.82982	CGG		0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			79	98	0	0	0	1	0	79	98					T	154185347	C	T	154185347	3	4	11	1	0	0	0	0	1	0	0	0	5352	652	23	1	5510	1	F8	23	154185347	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	492826	154185347	1085213	78	804										
BRCC3	79184	broad.mit.edu	37	chrX	154305493	154305493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0759493670886076	6	1	1.0754347826087	1.5459375	0.8245	1	1	0	attctgtcatcatcttacgaCgttctgataagaggaaggac	9	8	5	2			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:154305493C>T	ENST00000369462.1	+	4	269	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	BRCC3_ENST00000369459.2_Missense_Mutation_p.R82C|BRCC3_ENST00000399042.1_Missense_Mutation_p.R82C|BRCC3_ENST00000340647.4_Missense_Mutation_p.R83C|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Missense_Mutation_p.R82C	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	82	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)					CATCTTACGACGTTCTGATAA	0.413																																						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.(244-246)Cgt>Tgt		BRCA1/BRCA2-containing complex, subunit 3							114	97	102					X																	154305493		1869	4097	5966	SO:0001583	missense	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:154305493C>T	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.244C>T	X.37:g.154305493C>T	ENSP00000358474:p.Arg82Cys		Somatic				BRCC3_ENST00000369459.2_Missense_Mutation_p.R82C|BRCC3_ENST00000340647.4_Missense_Mutation_p.R83C|BRCC3_ENST00000330045.7_Missense_Mutation_p.R82C|BRCC3_ENST00000399042.1_Missense_Mutation_p.R82C|MTCP1_ENST00000362018.2_Intron	p.R82C	NM_024332.3	NP_077308.1	WXS	Illumina GAIIx	Phase_I	P46736	BRCC3_HUMAN			4	269	+	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)		82					A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	ENST00000369462.1	37	c.244C>T	CCDS56611.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674722	0.67928	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369459;ENST00000369462;ENST00000411985;ENST00000399042;ENST00000457026;ENST00000399026	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.68265	0.2982	M	0.90595	3.13	0.80722	D	1	B;B;B	0.32717	0.381;0.131;0.296	B;B;B	0.27500	0.067;0.023;0.08	T	0.74497	-0.3646	10	0.66056	D	0.02	-13.3793	15.2839	0.73814	0.0:1.0:0.0:0.0	.	83;82;82	P46736-3;P46736-2;P46736	.;.;BRCC3_HUMAN	C	83;82;82;82;58;82;82;24	ENSP00000344103:R83C;ENSP00000328641:R82C;ENSP00000358471:R82C;ENSP00000358474:R82C;ENSP00000413170:R58C;ENSP00000381998:R82C;ENSP00000381988:R24C	ENSP00000328641:R82C	R	+	1	0	BRCC3	153958687	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.164000	0.58190	2.287000	0.76781	0.523000	0.50628	CGT		0.413	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		49	39	0	0	0	1	0	49	39					T	154305493	C	T	154305493	3	4	11	1	0	0	0	0	1	0	0	0	1502	536	19	1	258	1	BRCC3	23	154305493	Missense_Mutation	SNP	C	TCGA-N5-A4RU-01A-31D-A28R-08	120146	154305493	965067	79	805										
ZZZ3	26009	broad.mit.edu	37	chr1	78044547	78044547	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	tgaaatacttctgtactcggCtggcaacctaaggaaacatg	9	9	1	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:78044547C>A	ENST00000370801.3	-	11	2565	c.2090G>T	c.(2089-2091)aGc>aTc	p.S697I	ZZZ3_ENST00000370798.1_Missense_Mutation_p.S203I|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	697	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.				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						CTGTACTCGGCTGGCAACCTA	0.343																																						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.(2089-2091)aGc>aTc		zinc finger, ZZ-type containing 3							66	67	66					1																	78044547		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78044547C>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"Zinc fingers, ZZ-type"	24523	protein-coding gene	gene with protein product	"ATAC component 1 homolog (Drosophila)"					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2090G>T	1.37:g.78044547C>A	ENSP00000359837:p.Ser697Ile		Somatic				ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.S203I	p.S697I	NM_015534.4	NP_056349.1	WXS	Illumina GAIIx	Phase_I	Q8IYH5	ZZZ3_HUMAN			11	2565	-			697			HTH myb-type.		B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.2090G>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941585	0.92526	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	T;T	0.53857	0.6;0.6	5.84	5.84	0.93424	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.040117	0.85682	D	0.000000	T	0.77025	0.4070	M	0.90705	3.14	0.80722	D	1	P;D;D	0.89917	0.899;1.0;0.988	P;D;P	0.87578	0.667;0.998;0.885	T	0.79955	-0.1585	10	0.87932	D	0	.	20.5276	0.99231	0.0:1.0:0.0:0.0	.	203;697;696	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	I	697;203	ENSP00000359837:S697I;ENSP00000359834:S203I	ENSP00000359834:S203I	S	-	2	0	ZZZ3	77817135	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.378000	0.79679	2.937000	0.99478	0.650000	0.86243	AGC		0.343	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		5	10	1	0	1.23904e-05	1	1.35704e-05	5	10					A	78044547	C	A	78044547	3	1	12	1	0	0	0	0	1	0	0	0	18271	797	28	5	641	5	ZZZ3	1	78044547	Missense_Mutation	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08		78044547	171206074	1	806										
LPPR4	9890	broad.mit.edu	37	chr1	99764627	99764627	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	attatgctctacagctctcaTtacagatatcatacagctgt	5	10	3	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:99764627T>A	ENST00000370185.3	+	4	1072	c.575T>A	c.(574-576)aTt>aAt	p.I192N	LPPR4_ENST00000457765.1_Missense_Mutation_p.I192N|LPPR4_ENST00000370184.1_Missense_Mutation_p.I34N	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		192					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)		ACAGCTCTCATTACAGATATC	0.368																																						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.(574-576)aTt>aAt									156	141	146					1																	99764627		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99764627T>A																												ENST00000370185.3:c.575T>A	1.37:g.99764627T>A	ENSP00000359204:p.Ile192Asn		Somatic				LPPR4_ENST00000457765.1_Missense_Mutation_p.I192N|LPPR4_ENST00000370184.1_Missense_Mutation_p.I34N	p.I192N	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)	4	1072	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	192					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.575T>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925363	0.73213	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.79247	-1.25;-1.08;-1.25	5.41	5.41	0.78517	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.049452	0.85682	D	0.000000	D	0.86268	0.5892	M	0.80332	2.49	0.58432	D	0.999998	D;D	0.76494	0.999;0.958	D;D	0.76071	0.987;0.936	D	0.88542	0.3110	10	0.87932	D	0	-23.9089	15.7585	0.78058	0.0:0.0:0.0:1.0	.	192;192	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	N	192;192;192;34	ENSP00000359204:I192N;ENSP00000394913:I192N;ENSP00000359203:I34N	ENSP00000263178:I192N	I	+	2	0	RP4-788L13.1	99537215	1.000000	0.71417	0.999000	0.59377	0.329000	0.28539	7.997000	0.88414	2.191000	0.70037	0.528000	0.53228	ATT		0.368	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			11	16	0	0	0	1	0	11	16					A	99764627	T	A	99764627	3	1	12	1	0	0	0	0	1	0	0	0	8936	1493	52	4	589	4	LPPR4	1	99764627	Missense_Mutation	SNP	T	TCGA-N5-A4RV-01A-21D-A28R-08	21720080	99764627	149485994	2	807										
SETDB1	9869	broad.mit.edu	37	chr1	150921998	150921998	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	acctgggatcaaccagacatAtaggtgagaaaatctgaggc	11	8	2	3			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:150921998A>G	ENST00000271640.5	+	12	1767	c.1577A>G	c.(1576-1578)tAt>tGt	p.Y526C	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.Y526C	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	526					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)			AACCAGACATATAGGTGAGAA	0.502																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1576-1578)tAt>tGt		SET domain, bifurcated 1							83	83	83					1																	150921998		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150921998A>G	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.1577A>G	1.37:g.150921998A>G	ENSP00000271640:p.Tyr526Cys		Somatic				SETDB1_ENST00000368969.4_Missense_Mutation_p.Y526C|SETDB1_ENST00000459773.1_Intron	p.Y526C	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)		12	1767	+	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)		526					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.1577A>G	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	A	3.083	-0.188546	0.06299	.	.	ENSG00000143379	ENST00000271640;ENST00000534805;ENST00000368969;ENST00000498193	D;T;D;T	0.87256	-2.23;1.52;-2.23;1.25	4.56	0.45	0.16624	.	1.210830	0.05470	N	0.552853	T	0.65015	0.2651	N	0.14661	0.345	0.09310	N	1	P;P;P;P	0.50156	0.464;0.599;0.932;0.889	B;B;B;B	0.43360	0.157;0.299;0.417;0.237	T	0.60505	-0.7250	10	0.39692	T	0.17	.	9.4298	0.38604	0.4876:0.0:0.0:0.5124	.	526;527;526;526	E9PRF4;E9PQM8;Q15047-3;Q15047	.;.;.;SETB1_HUMAN	C	526;527;526;526	ENSP00000271640:Y526C;ENSP00000436148:Y527C;ENSP00000357965:Y526C;ENSP00000432348:Y526C	ENSP00000271640:Y526C	Y	+	2	0	SETDB1	149188622	0.004000	0.15560	0.005000	0.12908	0.132000	0.20833	1.122000	0.31295	0.297000	0.22615	0.459000	0.35465	TAT		0.502	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			27	89	0	0	0	1	0	27	89					G	150921998	A	G	150921998	3	3	12	1	0	0	0	0	1	0	0	0	14153	449	16	4	1619	4	SETDB1	1	150921998	Missense_Mutation	SNP	A	TCGA-N5-A4RV-01A-21D-A28R-08	51157371	150921998	98328623	3	808										
C1orf43	25912	broad.mit.edu	37	chr1	154179938	154179939	+	Frame_Shift_Del	DEL	AC	AC	-													0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	cttcagctccgtcacagagtActctccaatgtgttatagtt							TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:154179938_154179939delAC	ENST00000368521.5	-	7	950_951	c.752_753delGT	c.(751-753)agtfs	p.S251fs	C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000368519.1_Frame_Shift_Del_p.S233fs|C1orf43_ENST00000362076.4_Frame_Shift_Del_p.S199fs|C1orf189_ENST00000368525.3_5'Flank|C1orf43_ENST00000350592.3_Frame_Shift_Del_p.S217fs	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	251						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)					GTCACAGAGTACTCTCCAATGT	0.51																																						ENST00000368521.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10						c.(751-753)afs		chromosome 1 open reading frame 43																																				SO:0001589	frameshift_variant	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154179938_154179939delAC	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.752_753delGT	1.37:g.154179938_154179939delAC	ENSP00000357507:p.Ser251fs		Somatic				C1orf43_ENST00000350592.3_Frame_Shift_Del_p.S217fs|C1orf43_ENST00000368519.1_Frame_Shift_Del_p.S233fs|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000362076.4_Frame_Shift_Del_p.S199fs	p.S251fs	NM_001098616.1	NP_001092086.1	WXS	Illumina GAIIx	Phase_I	Q9BWL3	CA043_HUMAN			7	950_951	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		251					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Frame_Shift_Del	DEL	ENST00000368521.5	37	c.752_753delGT	CCDS41404.1																																																																																				0.51	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		9	149						9	149	---	---	---	---	-	154179939	AC	-	154179938	7	5	12	1	0	1	0	1	0	0	0	0	2042	388	14	0	12	0	C1orf43	1	154179938	Frame_Shift_Del	DEL	AC	TCGA-N5-A4RV-01A-21D-A28R-08	3257940	154179938	95070683	4	809										
C1orf74	148304	broad.mit.edu	37	chr1	209956665	209956665	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	atggtaccaagcagcacctgCtccaagtgctgacatacatg	9	12	0	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:209956665C>G	ENST00000294811.1	-	2	571	c.315G>C	c.(313-315)gaG>gaC	p.E105D		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	105										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GCAGCACCTGCTCCAAGTGCT	0.532																																						ENST00000294811.1																			0				endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15						c.(313-315)gaG>gaC		chromosome 1 open reading frame 74							60	58	59					1																	209956665		2203	4300	6503	SO:0001583	missense	148304							g.chr1:209956665C>G	AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.315G>C	1.37:g.209956665C>G	ENSP00000294811:p.Glu105Asp		Somatic					p.E105D	NM_152485.2	NP_689698.1	WXS	Illumina GAIIx	Phase_I	Q96LT6	CA074_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0328)	2	571	-			105						Missense_Mutation	SNP	ENST00000294811.1	37	c.315G>C	CCDS1491.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617034	0.46736	.	.	ENSG00000162757	ENST00000294811	T	0.49139	0.79	5.61	2.43	0.29744	.	0.121454	0.56097	D	0.000037	T	0.60261	0.2255	M	0.66939	2.045	0.45378	D	0.998367	D	0.61697	0.99	D	0.65684	0.937	T	0.57602	-0.7783	10	0.59425	D	0.04	-9.4499	8.5125	0.33226	0.0:0.5967:0.0:0.4033	.	105	Q96LT6	CA074_HUMAN	D	105	ENSP00000294811:E105D	ENSP00000294811:E105D	E	-	3	2	C1orf74	208023288	0.025000	0.19082	1.000000	0.80357	0.996000	0.88848	0.124000	0.15728	0.205000	0.20568	0.655000	0.94253	GAG		0.532	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485		16	45	0	0	0	1	0	16	45					G	209956665	C	G	209956665	3	3	12	1	0	0	0	0	1	0	0	0	2060	796	28	5	498	5	C1orf74	1	209956665	Missense_Mutation	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08	55776727	209956665	39293956	5	810										
RD3	343035	broad.mit.edu	37	chr1	211652494	211652494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	gctggcgaagggcgagatgcGcgcgcgggtcttgaaggtgg	21	8	1	2			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:211652494G>A	ENST00000367002.4	-	3	1635	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	158					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GGCGAGATGCGCGCGCGGGTC	0.692																																						ENST00000367002.4																			0				central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(472-474)Cgc>Tgc		retinal degeneration 3							27	25	26					1																	211652494		2202	4297	6499	SO:0001583	missense	343035				response to stimulus|visual perception			g.chr1:211652494G>A	AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"chromosome 1 open reading frame 36"	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.472C>T	1.37:g.211652494G>A	ENSP00000355969:p.Arg158Cys		Somatic				RD3_ENST00000484910.1_5'UTR	p.R158C	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	WXS	Illumina GAIIx	Phase_I	Q7Z3Z2	RD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)	3	1635	-			158					A8K595	Missense_Mutation	SNP	ENST00000367002.4	37	c.472C>T	CCDS1498.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973135	0.74246	.	.	ENSG00000198570	ENST00000367002	T	0.14391	2.51	4.33	4.33	0.51752	.	0.191869	0.42294	D	0.000731	T	0.32585	0.0834	M	0.71581	2.175	0.50813	D	0.999892	D	0.89917	1.0	D	0.63597	0.916	T	0.07121	-1.0789	10	0.87932	D	0	-23.7011	12.3752	0.55275	0.0:0.0:0.7859:0.2141	.	158	Q7Z3Z2	RD3_HUMAN	C	158	ENSP00000355969:R158C	ENSP00000355969:R158C	R	-	1	0	RD3	209719117	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.559000	0.53756	2.131000	0.65755	0.555000	0.69702	CGC		0.692	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089837.1	NM_183059		9	31	0	0	0	1	0	9	31					A	211652494	G	A	211652494	3	1	12	1	0	0	0	0	1	0	0	0	13202	1087	38	1	119	1	RD3	1	211652494	Missense_Mutation	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08	1695829	211652494	37598127	6	811										
MXD1	4084	broad.mit.edu	37	chr2	70165331	70165331	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	cgagcggggcagcatgcagaGcctcggcagtgatgagggct	18	10	0	3			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr2:70165331G>C	ENST00000264444.2	+	6	841	c.581G>C	c.(580-582)aGc>aCc	p.S194T	MXD1_ENST00000540449.1_Missense_Mutation_p.S184T|MXD1_ENST00000465446.1_3'UTR	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	194					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	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 cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						AGCATGCAGAGCCTCGGCAGT	0.562																																						ENST00000264444.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						c.(580-582)aGc>aCc		MAX dimerization protein 1							116	111	113					2																	70165331		2203	4300	6503	SO:0001583	missense	4084				cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:70165331G>C		CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.581G>C	2.37:g.70165331G>C	ENSP00000264444:p.Ser194Thr		Somatic				MXD1_ENST00000540449.1_Missense_Mutation_p.S184T|MXD1_ENST00000465446.1_3'UTR	p.S194T	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	WXS	Illumina GAIIx	Phase_I	Q05195	MAD1_HUMAN			6	841	+			194					B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Missense_Mutation	SNP	ENST00000264444.2	37	c.581G>C	CCDS1896.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119716	0.94385	.	.	ENSG00000059728	ENST00000435990;ENST00000264444;ENST00000540449	T;T;T	0.61274	0.19;0.12;0.26	5.34	5.34	0.76211	.	0.084922	0.85682	D	0.000000	T	0.77665	0.4164	M	0.80982	2.52	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.73380	0.98;0.98;0.98	T	0.78979	-0.1990	10	0.62326	D	0.03	.	18.1326	0.89606	0.0:0.0:1.0:0.0	.	184;193;194	B7ZLI6;B7ZLI7;Q05195	.;.;MAD1_HUMAN	T	162;194;184	ENSP00000410672:S162T;ENSP00000264444:S194T;ENSP00000443935:S184T	ENSP00000264444:S194T	S	+	2	0	MXD1	70018835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.633000	0.98432	2.937000	0.99478	0.650000	0.86243	AGC		0.562	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251845.3	NM_002357		33	77	0	0	0	1	0	33	77					C	70165331	G	C	70165331	3	2	12	1	0	0	0	0	1	0	0	0	10008	971	34	5	603	5	MXD1	2	70165331	Missense_Mutation	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08		70165331	173034042	7	812										
LRP1B	53353	broad.mit.edu	37	chr2	141108430	141108430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	ttttgtagaaaattccgcctGgattaaactgagtactccaa	7	8	0	2			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr2:141108430G>A	ENST00000389484.3	-	77	12799	c.11828C>T	c.(11827-11829)cCa>cTa	p.P3943L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3943					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)		AATTCCGCCTGGATTAAACTG	0.328										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.(11827-11829)cCa>cTa		low density lipoprotein receptor-related protein 1B							81	83	82					2																	141108430		2201	4300	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141108430G>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.11828C>T	2.37:g.141108430G>A	ENSP00000374135:p.Pro3943Leu	TSP Lung(27;0.18)	Somatic					p.P3943L	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	12799	-		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)	3943					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11828C>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.97|16.97	3.269397|3.269397	0.59540|0.59540	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.91124|.	-2.79|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	0.070431|.	0.64402|.	D|.	0.000017|.	T|.	0.52041|.	0.1710|.	N|N	0.16166|0.16166	0.38|0.38	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|.	0.45716|.	-0.9242|.	10|.	0.27785|.	T|.	0.31|.	.|.	19.706|19.706	0.96072|0.96072	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3943|.	Q9NZR2|.	LRP1B_HUMAN|.	L|X	3943;3881|175	ENSP00000374135:P3943L|.	ENSP00000374135:P3943L|.	P|Q	-|-	2|1	0|0	LRP1B|LRP1B	140824900|140824900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.275000|9.275000	0.95738|0.95738	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		31	16	0	0	0	1	0	31	16					A	141108430	G	A	141108430	3	1	12	1	0	0	0	0	1	0	0	0	8964	1348	47	3	2031	3	LRP1B	2	141108430	Missense_Mutation	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08	70943099	141108430	102090943	8	813										
FMNL2	114793	broad.mit.edu	37	chr2	153415331	153415331	+	Frame_Shift_Del	DEL	C	C	-													0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	tctctcatttgcacagtacgCggtaacgtaagtaaaacttg					rs369392464		TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr2:153415331delC	ENST00000288670.9	+	5	804	c.437delC	c.(436-438)gcgfs	p.A146fs		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	146	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GCACAGTACGCGGTAACGTAA	0.378																																						ENST00000288670.9																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(436-438)ggfs		formin-like 2							106	104	105					2																	153415331		1887	4122	6009	SO:0001589	frameshift_variant	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153415331delC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.437delC	2.37:g.153415331delC	ENSP00000288670:p.Ala146fs		Somatic					p.A146fs	NM_052905.3	NP_443137.2	WXS	Illumina GAIIx	Phase_I	Q96PY5	FMNL2_HUMAN			5	804	+			146			GBD/FH3.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Frame_Shift_Del	DEL	ENST00000288670.9	37	c.437delC	CCDS46429.1																																																																																				0.378	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		6	13						6	13	---	---	---	---	-	153415331	C	-	153415331	7	5	12	1	0	1	0	1	0	0	0	0	5960	768	27	0	455	0	FMNL2	2	153415331	Frame_Shift_Del	DEL	C	TCGA-N5-A4RV-01A-21D-A28R-08	12306901	153415331	89784042	9	814										
DPP4	1803	broad.mit.edu	37	chr2	162865080	162865089	+	Frame_Shift_Del	DEL	TCCCACCGGG	TCCCACCGGG	-													0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	gcaattacataccatagtacTcccaccgggatacaggcgcc					rs138430103	byFrequency	TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr2:162865080_162865089delTCCCACCGGG	ENST00000360534.3	-	22	2530_2539	c.1970_1979delCCCGGTGGGA	c.(1969-1980)tcccggtgggagfs	p.SRWE657fs	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	657					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	ACCATAGTACTCCCACCGGGATACAGGCGC	0.471																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(1969-1980)tgfs		dipeptidyl-peptidase 4	Sitagliptin(DB01261)																																			SO:0001589	frameshift_variant	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162865080_162865089delTCCCACCGGG	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1970_1979delCCCGGTGGGA	2.37:g.162865080_162865089delTCCCACCGGG	ENSP00000353731:p.Ser657fs		Somatic				DPP4_ENST00000491591.1_5'UTR	p.SRWE657fs	NM_001935.3	NP_001926.2	WXS	Illumina GAIIx	Phase_I	P27487	DPP4_HUMAN			22	2530_2539	-			657					Q53TN1	Frame_Shift_Del	DEL	ENST00000360534.3	37	c.1970_1979delCCCGGTGGGA	CCDS2216.1																																																																																				0.471	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			24	19						24	19	---	---	---	---	-	162865089	TCCCACCGGG	-	162865080	7	5	12	1	0	1	0	1	0	0	0	0	4731	1551	54	0	341	0	DPP4	2	162865080	Frame_Shift_Del	DEL	TCCCACCGGG	TCGA-N5-A4RV-01A-21D-A28R-08	9449749	162865080	80334293	10	815										
KIF1A	547	broad.mit.edu	37	chr2	241713633	241713633	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	gggtctcatcgtagttgatgTctgcaggactcaaggctgcc	13	10	3	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr2:241713633T>A	ENST00000320389.7	-	12	1162	c.1004A>T	c.(1003-1005)gAc>gTc	p.D335V	KIF1A_ENST00000498729.2_Missense_Mutation_p.D335V	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	335	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GTAGTTGATGTCTGCAGGACT	0.587																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(1003-1005)gAc>gTc		kinesin family member 1A							78	84	82					2																	241713633		2164	4258	6422	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241713633T>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1004A>T	2.37:g.241713633T>A	ENSP00000322791:p.Asp335Val		Somatic				KIF1A_ENST00000320389.7_Missense_Mutation_p.D335V	p.D335V	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)	12	1250	-		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)	335			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.1004A>T	CCDS46561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.47|18.47	3.630372|3.630372	0.67015|0.67015	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283|ENST00000428768	T;T;T|.	0.75589|.	-0.95;-0.95;-0.95|.	4.33|4.33	4.33|4.33	0.51752|0.51752	Kinesin, motor domain (3);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.73845|0.73845	0.3639|0.3639	M|M	0.78223|0.78223	2.4|2.4	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.97110|.	1.0;0.999;0.981|.	T|T	0.75648|0.75648	-0.3245|-0.3245	10|5	0.87932|.	D|.	0|.	.|.	13.1872|13.1872	0.59688|0.59688	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	335;335;335|.	F5H045;Q12756-2;Q12756|.	.;.;KIF1A_HUMAN|.	V|S	335|142	ENSP00000322791:D335V;ENSP00000438388:D335V;ENSP00000384231:D335V|.	ENSP00000322791:D335V|.	D|R	-|-	2|3	0|2	KIF1A|KIF1A	241362306|241362306	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.596000|0.596000	0.36781|0.36781	7.764000|7.764000	0.85297|0.85297	1.593000|1.593000	0.50029|0.50029	0.374000|0.374000	0.22700|0.22700	GAC|AGA		0.587	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		27	8	0	0	0	1	0	27	8					A	241713633	T	A	241713633	3	1	12	1	0	0	0	0	1	0	0	0	8292	1667	58	4	4212	4	KIF1A	2	241713633	Missense_Mutation	SNP	T	TCGA-N5-A4RV-01A-21D-A28R-08	78848553	241713633	1485740	11	816										
MYRIP	25924	broad.mit.edu	37	chr3	40231702	40231702	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	gaagttgggcaccaggccagActgtcctggttgcagaggaa	15	9	0	2			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:40231702A>G	ENST00000302541.6	+	10	1755	c.1413A>G	c.(1411-1413)agA>agG	p.R471R	MYRIP_ENST00000396217.3_Silent_p.R382R|MYRIP_ENST00000539167.1_Silent_p.R284R|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Silent_p.R471R|MYRIP_ENST00000425621.1_Silent_p.R471R	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	471	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)		ACCAGGCCAGACTGTCCTGGT	0.622																																						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.(1411-1413)agA>agG		myosin VIIA and Rab interacting protein							64	69	68					3																	40231702		2203	4300	6503	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40231702A>G	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.1413A>G	3.37:g.40231702A>G			Somatic				MYRIP_ENST00000396217.3_Silent_p.R382R|MYRIP_ENST00000539167.1_Silent_p.R284R|MYRIP_ENST00000425621.1_Silent_p.R471R|MYRIP_ENST00000444716.1_Silent_p.R471R|MYRIP_ENST00000459828.1_3'UTR	p.R471R	NM_015460.2	NP_056275.2	WXS	Illumina GAIIx	Phase_I	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	10	1755	+			471			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.1413A>G	CCDS2689.1																																																																																				0.622	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		32	60	0	0	0	1	0	32	60					G	40231702	A	G	40231702	2	3	12	1	0	0	0	0	0	0	0	1	10109	272	10	4		4	MYRIP	3	40231702	Silent	SNP	A	TCGA-N5-A4RV-01A-21D-A28R-08		40231702	157790728	12	817										
DNAH1	25981	broad.mit.edu	37	chr3	52431061	52431061	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	cgcctacctacgacctccacGtgagtccagcccaaagggct	9	17	0	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:52431061G>A	ENST00000420323.2	+	73	12048		c.e73+1			NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1						cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGACCTCCACGTGAGTCCAGC	0.632																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.e73+1		dynein, axonemal, heavy chain 1							19	19	19					3																	52431061		1957	4139	6096	SO:0001630	splice_region_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52431061G>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.11787+1G>A	3.37:g.52431061G>A			Somatic						NM_015512.4	NP_056327.4	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)	73	12048	+								B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Splice_Site	SNP	ENST00000420323.2	37		CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849392	0.32699	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9111	0.86140	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH1	52406101	1.000000	0.71417	0.864000	0.33941	0.069000	0.16628	4.108000	0.57817	2.202000	0.70862	0.655000	0.94253	.		0.632	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	Intron	6	10	0	0	0	1	0	6	10					A	52431061	G	A	52431061	5	1	12	1	0	0	0	0	0	0	1	0	4599	1159	40	1	12074	1	DNAH1	3	52431061	Splice_Site	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08	12199359	52431061	145591369	13	818										
SLCO2A1	6578	broad.mit.edu	37	chr3	133664065	133664065	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	tctgggcacgagcagtccctGcggcaggcaggagactgcgg	17	12	1	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:133664065G>T	ENST00000310926.4	-	10	1608	c.1335C>A	c.(1333-1335)cgC>cgA	p.R445R	SLCO2A1_ENST00000493729.1_Silent_p.R369R	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	445	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.		R -> C (in dbSNP:rs146970901). {ECO:0000269|PubMed:22553128}.		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)	AGCAGTCCCTGCGGCAGGCAG	0.522																																						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.(1333-1335)cgC>cgA		solute carrier organic anion transporter family, member 2A1							140	152	148					3																	133664065		2203	4300	6503	SO:0001819	synonymous_variant	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133664065G>T		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1335C>A	3.37:g.133664065G>T			Somatic				SLCO2A1_ENST00000493729.1_Silent_p.R369R	p.R445R	NM_005630.2	NP_005621.2	WXS	Illumina GAIIx	Phase_I	Q92959	SO2A1_HUMAN			10	1608	-			445			Kazal-like.		Q86V98|Q8IUN2	Silent	SNP	ENST00000310926.4	37	c.1335C>A	CCDS3084.1																																																																																				0.522	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		56	305	1	0	5.73376e-24	1	6.59382e-24	56	305					T	133664065	G	T	133664065	2	4	12	1	0	0	0	0	0	0	0	1	14741	1306	46	5		5	SLCO2A1	3	133664065	Silent	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08	81233004	133664065	64358365	14	819										
MED12L	116931	broad.mit.edu	37	chr3	150877759	150877760	+	Frame_Shift_Ins	INS	-	-	TCGAGTA													0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	tgatgataggaccaaacaacINStcgagtatcggggcccccag							TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:150877759_150877760insTCGAGTA	ENST00000474524.1	+	7	1016_1017	c.978_979insTCGAGTA	c.(979-981)tcgfs	p.-329fs	MED12L_ENST00000422248.2_Frame_Shift_Ins_p.-329fs|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Frame_Shift_Ins_p.-329fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GACCAAACAACTCGAGTATCGG	0.609																																						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.(976-981)aacgagfs		mediator complex subunit 12-like																																				SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877759_150877760insTCGAGTA	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.979_985dupTCGAGTA	3.37:g.150877760_150877766dupTCGAGTA	ENSP00000417235:p.Ile329fs		Somatic				MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Frame_Shift_Ins_p.E327fs|MED12L_ENST00000309237.4_Frame_Shift_Ins_p.E327fs	p.E327fs	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	1016_1017	+			327					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Ins	INS	ENST00000474524.1	37	c.978_979insTCGAGTA	CCDS33876.1																																																																																				0.609	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	205						7	205	---	---	---	---	TCGAGTA	150877760	-	TCGAGTA	150877759	7	5	12	1	0	1	1	0	0	0	0	0	9438	564	20	0	1004	0	MED12L	3	150877759	Frame_Shift_Ins	INS	-	TCGA-N5-A4RV-01A-21D-A28R-08	17213694	150877759	47144671	15	820										
SI	6476	broad.mit.edu	37	chr3	164704992	164704992	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	attatcatctgcagcaacaaTgagcttcatgtgtttttgtc	7	8	3	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:164704992T>G	ENST00000264382.3	-	45	5193	c.5131A>C	c.(5131-5133)Att>Ctt	p.I1711L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1711	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)	GCAGCAACAATGAGCTTCATG	0.343										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(5131-5133)Att>Ctt		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						150	147	148					3																	164704992		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164704992T>G	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.5131A>C	3.37:g.164704992T>G	ENSP00000264382:p.Ile1711Leu	HNSCC(35;0.089)	Somatic					p.I1711L	NM_001041.3	NP_001032.2	WXS	Illumina GAIIx	Phase_I	P14410	SUIS_HUMAN			45	5193	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1711			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.5131A>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	11.21	1.571635	0.28003	.	.	ENSG00000090402	ENST00000264382	D	0.88509	-2.39	5.28	5.28	0.74379	.	0.052622	0.85682	D	0.000000	D	0.83216	0.5206	L	0.33245	0.995	0.31411	N	0.675493	B	0.12013	0.005	B	0.15484	0.013	T	0.78600	-0.2141	10	0.25106	T	0.35	.	15.0431	0.71807	0.0:0.0:0.0:1.0	.	1711	P14410	SUIS_HUMAN	L	1711	ENSP00000264382:I1711L	ENSP00000264382:I1711L	I	-	1	0	SI	166187686	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	4.787000	0.62432	2.210000	0.71456	0.533000	0.62120	ATT		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		12	29	0	0	0	1	0	12	29					G	164704992	T	G	164704992	3	3	12	1	0	0	0	0	1	0	0	0	14312	1464	51	4	368	4	SI	3	164704992	Missense_Mutation	SNP	T	TCGA-N5-A4RV-01A-21D-A28R-08	13827233	164704992	33317438	16	821										
SLITRK3	22865	broad.mit.edu	37	chr3	164908297	164908297	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	ctgcaatgcattgttcccaaGattaatagacacagcattat	6	9	0	2			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:164908297G>T	ENST00000475390.1	-	2	765	c.322C>A	c.(322-324)Ctt>Att	p.L108I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L108I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	108					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						TTGTTCCCAAGATTAATAGAC	0.343										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.(322-324)Ctt>Att		SLIT and NTRK-like family, member 3							50	52	51					3																	164908297		2202	4299	6501	SO:0001583	missense	22865					integral to membrane		g.chr3:164908297G>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.322C>A	3.37:g.164908297G>T	ENSP00000420091:p.Leu108Ile	HNSCC(40;0.11)	Somatic				SLITRK3_ENST00000241274.3_Missense_Mutation_p.L108I	p.L108I			WXS	Illumina GAIIx	Phase_I	O94933	SLIK3_HUMAN			2	765	-			108					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.322C>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745175	0.49151	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;T	0.72505	-0.66;-0.66;-0.66	5.99	5.99	0.97316	.	0.000000	0.33875	N	0.004474	D	0.84642	0.5517	M	0.83603	2.65	0.41493	D	0.988236	D	0.63880	0.993	D	0.70016	0.967	D	0.85914	0.1442	10	0.62326	D	0.03	-14.9588	15.2214	0.73313	0.0:0.0:0.8594:0.1406	.	108	O94933	SLIK3_HUMAN	I	108	ENSP00000420091:L108I;ENSP00000241274:L108I;ENSP00000419611:L108I	ENSP00000241274:L108I	L	-	1	0	SLITRK3	166390991	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.501000	0.66950	2.847000	0.97988	0.655000	0.94253	CTT		0.343	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		23	10	1	0	1.22574e-08	1	1.35865e-08	23	10					T	164908297	G	T	164908297	3	4	12	1	0	0	0	0	1	0	0	0	14759	942	33	2	2615	2	SLITRK3	3	164908297	Missense_Mutation	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08	203305	164908297	33114133	17	822										
MFI2	4241	broad.mit.edu	37	chr3	196736583	196736583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	gcagggctgccgaaaccggcGtggcaggagcgcttgccccg	17	14	0	0			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:196736583G>A	ENST00000296350.5	-	11	1544	c.1431C>T	c.(1429-1431)caC>caT	p.H477H		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	477	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)		CGAAACCGGCGTGGCAGGAGC	0.637																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(1429-1431)caC>caT		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5							50	54	53					3																	196736583		2203	4300	6503	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.chr3:196736583G>A		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.1431C>T	3.37:g.196736583G>A			Somatic					p.H477H	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)	11	1544	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		477			Transferrin-like 2.		Q9BQE2	Silent	SNP	ENST00000296350.5	37	c.1431C>T	CCDS3325.1																																																																																				0.637	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			51	28	0	0	0	1	0	51	28					A	196736583	G	A	196736583	2	1	12	1	0	0	0	0	0	0	0	1	9531	1136	40	1		1	MFI2	3	196736583	Silent	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08	31828286	196736583	1285847	18	823										
TMEM144	55314	broad.mit.edu	37	chr4	159140504	159140504	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	gcagaagaagtatcaaatccGctgctaaattacattggagc	9	8	1	2			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr4:159140504G>A	ENST00000296529.6	+	6	895	c.375G>A	c.(373-375)ccG>ccA	p.P125P	TMEM144_ENST00000514558.1_Silent_p.P125P	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	125						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TATCAAATCCGCTGCTAAATT	0.363																																						ENST00000514558.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19						c.(373-375)ccG>ccA		transmembrane protein 144							151	151	151					4																	159140504		2203	4300	6503	SO:0001819	synonymous_variant	55314					integral to membrane		g.chr4:159140504G>A	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.375G>A	4.37:g.159140504G>A			Somatic				TMEM144_ENST00000296529.6_Silent_p.P125P	p.P125P			WXS	Illumina GAIIx	Phase_I	Q7Z5S9	TM144_HUMAN		COAD - Colon adenocarcinoma(41;0.0539)	5	2171	+	all_hematologic(180;0.24)	Renal(120;0.0854)	125					D3DP24|Q49A05|Q9NUT3	Silent	SNP	ENST00000296529.6	37	c.375G>A	CCDS3799.1																																																																																				0.363	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342		31	74	0	0	0	1	0	31	74					A	159140504	G	A	159140504	2	1	12	1	0	0	0	0	0	0	0	1	16073	1074	38	1		1	TMEM144	4	159140504	Silent	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08		159140504	32013772	19	824										
C5orf51	285636	broad.mit.edu	37	chr5	41904475	41904475	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	ccgccgattgtggccatggcGgccgcagtctctagtgtggt	15	12	1	0			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr5:41904475G>C	ENST00000381647.2	+	1	25	c.6G>C	c.(4-6)gcG>gcC	p.A2A	C5orf51_ENST00000505931.2_Intron	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	2										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TGGCCATGGCGGCCGCAGTCT	0.662																																						ENST00000381647.2																			0				endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(4-6)gcG>gcC		chromosome 5 open reading frame 51							24	25	25					5																	41904475		2180	4267	6447	SO:0001819	synonymous_variant	285636							g.chr5:41904475G>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.6G>C	5.37:g.41904475G>C			Somatic				C5orf51_ENST00000505931.2_Intron	p.A2A	NM_175921.4	NP_787117.3	WXS	Illumina GAIIx	Phase_I	A6NDU8	CE051_HUMAN			1	25	+			2					A2RRM9	Silent	SNP	ENST00000381647.2	37	c.6G>C	CCDS34151.1																																																																																				0.662	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921		14	21	0	0	0	1	0	14	21					C	41904475	G	C	41904475	2	2	12	1	0	0	0	0	0	0	0	1	2310	1103	39	5		5	C5orf51	5	41904475	Silent	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08		41904475	139010785	20	825										
IL6ST	3572	broad.mit.edu	37	chr5	55265552	55265552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	aaaatggtttgttttccagaCaatgtaattagcatttacat	6	5	0	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr5:55265552C>T	ENST00000381298.2	-	4	508	c.196G>A	c.(196-198)Gtc>Atc	p.V66I	IL6ST_ENST00000502326.3_Missense_Mutation_p.V66I|IL6ST_ENST00000536319.1_Missense_Mutation_p.V66I|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.V66I|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381287.4_Missense_Mutation_p.V66I|IL6ST_ENST00000522633.2_Missense_Mutation_p.V66I|IL6ST_ENST00000336909.5_Missense_Mutation_p.V66I|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000577363.1_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	66	Ig-like C2-type.				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)				GTTTTCCAGACAATGTAATTA	0.318			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(196-198)Gtc>Atc		interleukin 6 signal transducer (gp130, oncostatin M receptor)							109	102	104					5																	55265552		2203	4299	6502	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55265552C>T	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.196G>A	5.37:g.55265552C>T	ENSP00000370698:p.Val66Ile		Somatic				IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.V66I|IL6ST_ENST00000502326.3_Missense_Mutation_p.V66I|IL6ST_ENST00000522633.2_Missense_Mutation_p.V66I|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.V66I|IL6ST_ENST00000381294.3_Missense_Mutation_p.V66I|IL6ST_ENST00000381287.4_Missense_Mutation_p.V66I|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381286.3_Intron	p.V66I	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			4	508	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	66			Ig-like C2-type.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.196G>A	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	C	6.910	0.537507	0.13188	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.86	-1.63	0.08345	Fibronectin, type III (1);Immunoglobulin C2-set-like, ligand-binding (1);Immunoglobulin-like fold (1);	0.977214	0.08447	N	0.944580	T	0.56949	0.2020	N	0.13098	0.295	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	0.28933	-1.0028	10	0.20046	T	0.44	.	7.1729	0.25728	0.5306:0.124:0.0:0.3455	.	66;66;66	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	I	66	ENSP00000370698:V66I;ENSP00000338799:V66I;ENSP00000370694:V66I;ENSP00000370687:V66I;ENSP00000444456:V66I;ENSP00000435399:V66I	ENSP00000338799:V66I	V	-	1	0	IL6ST	55301309	1.000000	0.71417	0.870000	0.34147	0.970000	0.65996	0.917000	0.28665	-0.533000	0.06323	-1.079000	0.02226	GTC		0.318	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		13	35	0	0	0	1	0	13	35					T	55265552	C	T	55265552	3	4	12	1	0	0	0	0	1	0	0	0	7712	478	17	3	2616	3	IL6ST	5	55265552	Missense_Mutation	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08	13361077	55265552	125649708	21	826										
F2RL1	2150	broad.mit.edu	37	chr5	76115089	76115089	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	cctgcagtggcaccatccaaGgtgagaaacctggccaagga	12	12	0	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr5:76115089G>T	ENST00000296677.4	+	1	288	c.82G>T	c.(82-84)Gga>Tga	p.G28*		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	28					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CACCATCCAAGGTGAGAAACC	0.672																																						ENST00000296677.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.e1+1		coagulation factor II (thrombin) receptor-like 1							8	9	9					5																	76115089		1924	3942	5866	SO:0001630	splice_region_variant	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76115089G>T	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"GPCR / Class A : Protease activated receptors"	3538	protein-coding gene	gene with protein product	"proteinase-activated receptor-2"	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.82+1G>T	5.37:g.76115089G>T			Somatic					p.G28_splice	NM_005242.4	NP_005233.3	WXS	Illumina GAIIx	Phase_I	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	1	288	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	28					Q13317|Q13346|Q53XJ8	Splice_Site	SNP	ENST00000296677.4	37	c.82_splice	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	34	5.325976	0.95708	.	.	ENSG00000164251	ENST00000296677	.	.	.	2.61	2.61	0.31194	.	2.230000	0.01650	N	0.024488	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-0.1463	8.883	0.35387	0.0:0.0:1.0:0.0	.	.	.	.	X	28	.	ENSP00000296677:G28X	G	+	1	0	F2RL1	76150845	1.000000	0.71417	0.150000	0.22450	0.109000	0.19521	2.310000	0.43708	1.772000	0.52199	0.563000	0.77884	GGA		0.672	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2		Nonsense_Mutation	4	7	1	0	0.014758	1	0.0149202	4	7					T	76115089	G	T	76115089	5	4	12	1	0	0	0	0	0	0	1	0	5346	1014	35	5	84	5	F2RL1	5	76115089	Splice_Site	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08	20849537	76115089	104800171	22	827										
ANXA6	309	broad.mit.edu	37	chr5	150512081	150512081	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	agtccccagacagctcccctCggatgctggcttcaatcggc	10	16	1	1	rs370325414		TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr5:150512081C>G	ENST00000354546.5	-	10	919	c.692G>C	c.(691-693)cGa>cCa	p.R231P	ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.R199P|ANXA6_ENST00000356496.5_Missense_Mutation_p.R231P	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	231					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)	p.R231Q(1)		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)			CAGCTCCCCTCGGATGCTGGC	0.552																																						ENST00000354546.5																			1	Substitution - Missense(1)	p.R231Q(1)	ovary(1)	endometrium(2)|kidney(1)|lung(9)	12						c.(691-693)cGa>cCa		annexin A6							50	52	51					5																	150512081		1917	4128	6045	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150512081C>G	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.692G>C	5.37:g.150512081C>G	ENSP00000346550:p.Arg231Pro		Somatic				ANXA6_ENST00000523714.1_Missense_Mutation_p.R199P|ANXA6_ENST00000356496.5_Missense_Mutation_p.R231P|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000377751.5_Intron	p.R231P	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)		10	919	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	231					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.692G>C	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389593	0.82902	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000356496;ENST00000540153	T;T;T	0.03386	3.95;3.95;3.95	5.31	5.31	0.75309	Annexin repeat, conserved site (1);	0.269315	0.37715	N	0.001970	T	0.11067	0.0270	L	0.53671	1.685	0.47737	D	0.999504	B;D	0.54601	0.008;0.967	B;P	0.54590	0.016;0.756	T	0.00391	-1.1769	10	0.66056	D	0.02	.	15.8962	0.79336	0.0:1.0:0.0:0.0	.	231;231	A6NN80;P08133	.;ANXA6_HUMAN	P	231;199;231;105	ENSP00000346550:R231P;ENSP00000430517:R199P;ENSP00000348889:R231P	ENSP00000346550:R231P	R	-	2	0	ANXA6	150492274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.008000	0.57103	2.487000	0.83934	0.650000	0.86243	CGA		0.552	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		9	19	0	0	0	1	0	9	19					G	150512081	C	G	150512081	3	3	12	1	0	0	0	0	1	0	0	0	722	884	31	2	1397	2	ANXA6	5	150512081	Missense_Mutation	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08	74396992	150512081	30403179	23	828										
EHMT2	10919	broad.mit.edu	37	chr6	31848029	31848029	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	ttgatgtcccagaagcggtcGccatagtcaaacctgtcaga	10	11	2	3			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:31848029G>A	ENST00000375537.4	-	28	3471	c.3465C>T	c.(3463-3465)ggC>ggT	p.G1155G	SLC44A4_ENST00000375562.4_5'Flank|EHMT2_ENST00000375528.4_Silent_p.G1178G|SLC44A4_ENST00000229729.6_5'Flank|EHMT2_ENST00000395728.3_Silent_p.G1212G|EHMT2_ENST00000480912.1_5'UTR|SLC44A4_ENST00000465707.1_5'Flank|EHMT2_ENST00000375530.4_Silent_p.G1121G|SLC44A4_ENST00000544672.1_5'Flank	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1155	Interaction with histone H3. {ECO:0000250}.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						AGAAGCGGTCGCCATAGTCAA	0.567																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(3634-3636)ggC>ggT		euchromatic histone-lysine N-methyltransferase 2							45	46	46					6																	31848029		1510	2708	4218	SO:0001819	synonymous_variant	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.chr6:31848029G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3465C>T	6.37:g.31848029G>A			Somatic				EHMT2_ENST00000375528.4_Silent_p.G1178G|EHMT2_ENST00000375530.4_Silent_p.G1121G|EHMT2_ENST00000375537.4_Silent_p.G1155G|EHMT2_ENST00000480912.1_5'UTR	p.G1212G			WXS	Illumina GAIIx	Phase_I	Q96KQ7	EHMT2_HUMAN			27	3635	-			1155					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	c.3636C>T	CCDS4725.1																																																																																				0.567	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		4	37	0	0	0	1	0	4	37					A	31848029	G	A	31848029	2	1	12	1	0	0	0	0	0	0	0	1	4986	1074	38	1		1	EHMT2	6	31848029	Silent	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08		31848029	139267038	24	829										
TREML2	79865	broad.mit.edu	37	chr6	41162265	41162265	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	ggtccccagacttagtggagAtggattctgggccagcagag	15	9	1	3			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:41162265A>C	ENST00000483722.1	-	3	868	c.683T>G	c.(682-684)aTc>aGc	p.I228S		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	228					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTTAGTGGAGATGGATTCTGG	0.622																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(682-684)aTc>aGc		triggering receptor expressed on myeloid cells-like 2							95	92	93					6																	41162265		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41162265A>C	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.683T>G	6.37:g.41162265A>C	ENSP00000418767:p.Ile228Ser		Somatic					p.I228S	NM_024807.2	NP_079083.2	WXS	Illumina GAIIx	Phase_I	Q5T2D2	TRML2_HUMAN			3	868	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		228					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.683T>G	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	A	11.52	1.664647	0.29604	.	.	ENSG00000112195	ENST00000483722	T	0.06218	3.33	4.26	-5.09	0.02920	.	1.747850	0.03276	N	0.185489	T	0.01976	0.0062	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.47420	-0.9119	10	0.54805	T	0.06	-0.7692	6.7839	0.23662	0.2682:0.0:0.5845:0.1473	.	228	Q5T2D2	TRML2_HUMAN	S	228	ENSP00000418767:I228S	ENSP00000418767:I228S	I	-	2	0	TREML2	41270243	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-0.321000	0.08018	-1.105000	0.03011	0.523000	0.50628	ATC		0.622	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		21	18	0	0	0	1	0	21	18					C	41162265	A	C	41162265	3	2	12	1	0	0	0	0	1	0	0	0	16488	333	12	4	294	4	TREML2	6	41162265	Missense_Mutation	SNP	A	TCGA-N5-A4RV-01A-21D-A28R-08	9314236	41162265	129952802	25	830										
PRDM1	639	broad.mit.edu	37	chr6	106552814	106552814	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	cctaaaattggactccaaccCctccaaaggaaaggacctct	6	14	1	0			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:106552814C>A	ENST00000369096.4	+	5	1013	c.779C>A	c.(778-780)cCc>cAc	p.P260H	PRDM1_ENST00000369089.3_Missense_Mutation_p.P126H|PRDM1_ENST00000369091.2_Missense_Mutation_p.P224H	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	260					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GACTCCAACCCCTCCAAAGGA	0.468			"D, N, Mis, F, S"		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"D, N, Mis, F, S"	"PR domain containing 1, with ZNF domain"			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(778-780)cCc>cAc		PR domain containing 1, with ZNF domain							230	246	240					6																	106552814		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106552814C>A		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.779C>A	6.37:g.106552814C>A	ENSP00000358092:p.Pro260His		Somatic				PRDM1_ENST00000369091.2_Missense_Mutation_p.P224H|PRDM1_ENST00000369089.3_Missense_Mutation_p.P126H	p.P260H	NM_001198.3	NP_001189.2	WXS	Illumina GAIIx	Phase_I	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1013	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	260					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.779C>A	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	C	8.091	0.774626	0.16051	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000450060;ENST00000369089	T;T;T;T	0.55930	3.22;3.2;0.49;3.17	5.59	4.64	0.57946	.	0.364591	0.28156	N	0.016389	T	0.17152	0.0412	N	0.12471	0.22	0.09310	N	0.999995	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.03875	-1.0996	10	0.24483	T	0.36	-15.7662	13.7135	0.62682	0.2664:0.7336:0.0:0.0	.	126;260	Q86WM7;O75626	.;PRDM1_HUMAN	H	224;260;224;139;126	ENSP00000358087:P224H;ENSP00000358092:P260H;ENSP00000399772:P139H;ENSP00000358085:P126H	ENSP00000358085:P126H	P	+	2	0	PRDM1	106659507	0.002000	0.14202	0.996000	0.52242	0.867000	0.49689	1.510000	0.35790	2.640000	0.89533	0.655000	0.94253	CCC		0.468	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			201	223	1	0	7.15978e-92	1	8.33798e-92	201	223					A	106552814	C	A	106552814	3	1	12	1	0	0	0	0	1	0	0	0	12462	623	22	5	810	5	PRDM1	6	106552814	Missense_Mutation	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08	65390549	106552814	64562253	26	831										
STX7	8417	broad.mit.edu	37	chr6	132792624	132792624	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	acactctggaactggctcttActcgagcaacaaactctttc	6	13	3	0			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:132792624A>C	ENST00000367941.2	-	5	478	c.365T>G	c.(364-366)gTa>gGa	p.V122G	STX7_ENST00000367937.4_Missense_Mutation_p.V122G|STX7_ENST00000448348.3_5'UTR	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	122					intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		ACTGGCTCTTACTCGAGCAAC	0.428																																						ENST00000367941.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19						c.(364-366)gTa>gGa		syntaxin 7							139	132	134					6																	132792624		2203	4300	6503	SO:0001583	missense	8417				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity	g.chr6:132792624A>C	U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.365T>G	6.37:g.132792624A>C	ENSP00000356918:p.Val122Gly		Somatic				STX7_ENST00000448348.3_5'UTR|STX7_ENST00000367937.4_Missense_Mutation_p.V122G	p.V122G	NM_003569.2	NP_003560.2	WXS	Illumina GAIIx	Phase_I	O15400	STX7_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)	5	478	-	Breast(56;0.0615)		122					E1P579|Q5SZW2|Q96ES9	Missense_Mutation	SNP	ENST00000367941.2	37	c.365T>G	CCDS5153.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252098	0.80135	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000309255;ENST00000367937	T;T;T	0.22743	1.94;1.94;1.94	5.93	4.78	0.61160	t-SNARE (1);	0.000000	0.85682	D	0.000000	T	0.19167	0.0460	M	0.65975	2.015	0.80722	D	1	P	0.52316	0.952	P	0.52189	0.692	T	0.03394	-1.1041	10	0.22706	T	0.39	-13.6617	11.8104	0.52179	0.9319:0.0:0.068:0.0	.	122	O15400	STX7_HUMAN	G	122;122;77;122	ENSP00000356918:V122G;ENSP00000412202:V122G;ENSP00000356914:V122G	ENSP00000309600:V77G	V	-	2	0	STX7	132834317	1.000000	0.71417	0.988000	0.46212	0.999000	0.98932	6.819000	0.75262	1.076000	0.40961	0.533000	0.62120	GTA		0.428	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2			38	55	0	0	0	1	0	38	55					C	132792624	A	C	132792624	3	2	12	1	0	0	0	0	1	0	0	0	15365	391	14	4	444	4	STX7	6	132792624	Missense_Mutation	SNP	A	TCGA-N5-A4RV-01A-21D-A28R-08	26239810	132792624	38322443	27	832										
IGF2R	3482	broad.mit.edu	37	chr6	160517488	160517488	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	cagacggcgatctcgatgtcGtgtttgcctcttcctctaag	10	12	3	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:160517488G>C	ENST00000356956.1	+	45	6821	c.6673G>C	c.(6673-6675)Gtg>Ctg	p.V2225L	RP11-288H12.3_ENST00000569097.1_RNA|IGF2R_ENST00000475584.1_3'UTR	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2225					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.V2225M(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TCTCGATGTCGTGTTTGCCTC	0.512																																						ENST00000356956.1																			1	Substitution - Missense(1)	p.V2225M(1)	large_intestine(1)	breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(6673-6675)Gtg>Ctg		insulin-like growth factor 2 receptor							302	217	246					6																	160517488		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160517488G>C	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6673G>C	6.37:g.160517488G>C	ENSP00000349437:p.Val2225Leu		Somatic				IGF2R_ENST00000475584.1_3'UTR	p.V2225L	NM_000876.2	NP_000867.2	WXS	Illumina GAIIx	Phase_I	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	45	6821	+		Breast(66;0.000777)|Ovarian(120;0.0305)	2225					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.6673G>C	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307748	0.40795	.	.	ENSG00000197081	ENST00000356956	T	0.03801	3.8	5.69	5.69	0.88448	Mannose-6-phosphate receptor, binding (1);	0.232974	0.43579	D	0.000554	T	0.03608	0.0103	M	0.68952	2.095	0.43137	D	0.994887	P	0.41475	0.751	B	0.39738	0.308	T	0.50065	-0.8871	10	0.20519	T	0.43	-28.1939	13.4845	0.61357	0.0806:0.0:0.9194:0.0	.	2225	P11717	MPRI_HUMAN	L	2225	ENSP00000349437:V2225L	ENSP00000349437:V2225L	V	+	1	0	IGF2R	160437478	1.000000	0.71417	0.996000	0.52242	0.642000	0.38348	3.377000	0.52425	2.677000	0.91161	0.655000	0.94253	GTG		0.512	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		19	196	0	0	0	1	0	19	196					C	160517488	G	C	160517488	3	2	12	1	0	0	0	0	1	0	0	0	7585	1145	40	5	6851	5	IGF2R	6	160517488	Missense_Mutation	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08	27724864	160517488	10597579	28	833										
TNRC18	84629	broad.mit.edu	37	chr7	5352561	5352563	+	In_Frame_Del	DEL	GAG	GAG	-													0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	aggaggatgaggacgaggaaGaggaggaggaggaagaggag							TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr7:5352561_5352563delGAG	ENST00000430969.1	-	27	8307_8309	c.7959_7961delCTC	c.(7957-7962)tcctct>tct	p.2653_2654SS>S	TNRC18_ENST00000399537.4_In_Frame_Del_p.2653_2654SS>S	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2653	Ser-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		ggacgaggaagaggaggaggagg	0.606																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(7957-7962)tct>tc		trinucleotide repeat containing 18				11,3879		0,11,1934						-5	0			7	26,7484		1,24,3730	no	coding	TNRC18	NM_001080495.2		1,35,5664	A1A1,A1R,RR		0.3462,0.2828,0.3246				37,11363				SO:0001651	inframe_deletion	84629						DNA binding	g.chr7:5352561_5352563delGAG	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.7959_7961delCTC	7.37:g.5352570_5352572delGAG	ENSP00000395538:p.Ser2671del		Somatic				TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2669del	p.SS2669del			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	8307_8309	-		Ovarian(82;0.142)	2669			Ser-rich.		A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	ENST00000430969.1	37	c.7959_7961delCTC	CCDS47534.1																																																																																				0.606	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---	-	5352563	GAG	-	5352561	7	5	12	1	0	1	0	1	0	0	0	0	16354	942	33	0	961	0	TNRC18	7	5352561	In_Frame_Del	DEL	GAG	TCGA-N5-A4RV-01A-21D-A28R-08		5352561	153786102	29	834										
LMOD2	442721	broad.mit.edu	37	chr7	123302950	123302950	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	tccccctccttcttcccaaaGgctgccaccacctcctcctc	3	23	1	0			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr7:123302950G>T	ENST00000458573.2	+	2	1467	c.1310G>T	c.(1309-1311)aGg>aTg	p.R437M	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	437	Pro-rich.					cytoskeleton (GO:0005856)											tcttcccaaaggctgccacca	0.572																																						ENST00000458573.2																			0											c.(1309-1311)aGg>aTg		leiomodin 2 (cardiac)							16	16	16					7																	123302950		1891	4080	5971	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302950G>T	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.1310G>T	7.37:g.123302950G>T	ENSP00000411932:p.Arg437Met		Somatic				LMOD2_ENST00000456238.2_Intron	p.R437M	NM_207163.1	NP_997046.1	WXS	Illumina GAIIx	Phase_I	Q6P5Q4	LMOD2_HUMAN			2	1467	+			437			Pro-rich.		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.1310G>T	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	G	2.074	-0.412368	0.04799	.	.	ENSG00000170807	ENST00000458573;ENST00000444702	T	0.42900	0.96	5.33	-8.57	0.00900	.	.	.	.	.	T	0.15046	0.0363	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16305	-1.0407	9	0.44086	T	0.13	.	1.0724	0.01624	0.3628:0.1482:0.113:0.376	.	437	Q6P5Q4	LMOD2_HUMAN	M	437;397	ENSP00000411932:R437M	ENSP00000390902:R397M	R	+	2	0	LMOD2	123090186	0.300000	0.24435	0.000000	0.03702	0.006000	0.05464	0.225000	0.17757	-1.810000	0.01230	-0.373000	0.07131	AGG		0.572	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			7	2	1	0	8.12818e-05	1	8.59532e-05	7	2					T	123302950	G	T	123302950	3	4	12	1	0	0	0	0	1	0	0	0	8866	1000	35	5	1316	5	LMOD2	7	123302950	Missense_Mutation	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08	117950389	123302950	35835713	30	835										
OR2A12	346525	broad.mit.edu	37	chr7	143792722	143792722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	tgtggcccacaaaagatcaaCcactttttctgtcaaatcat	5	11	4	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr7:143792722C>T	ENST00000408949.2	+	1	582	c.522C>T	c.(520-522)aaC>aaT	p.N174N		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAAAGATCAACCACTTTTTCT	0.463																																						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.(520-522)aaC>aaT		olfactory receptor, family 2, subfamily A, member 12							164	154	157					7																	143792722		1967	4151	6118	SO:0001819	synonymous_variant	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792722C>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.522C>T	7.37:g.143792722C>T			Somatic					p.N174N	NM_001004135.1	NP_001004135.1	WXS	Illumina GAIIx	Phase_I	Q8NGT7	O2A12_HUMAN			1	582	+	Melanoma(164;0.0783)		174					Q6IF43	Silent	SNP	ENST00000408949.2	37	c.522C>T	CCDS43670.1																																																																																				0.463	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			33	72	0	0	0	1	0	33	72					T	143792722	C	T	143792722	2	4	12	1	0	0	0	0	0	0	0	1	10984	506	18	3		3	OR2A12	7	143792722	Silent	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08	20489772	143792722	15345941	31	836										
ATG9B	285973	broad.mit.edu	37	chr7	150715385	150715385	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	tcgcgcccaccctcaccgctCggtactgcagcagctgcgcc	10	20	1	0			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr7:150715385C>T	ENST00000377974.2	-	7	1943	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_Missense_Mutation_p.R623Q|ATG9B_ENST00000444312.1_Missense_Mutation_p.R109Q			Q674R7	ATG9B_HUMAN	autophagy related 9B	623					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCACCGCTCGGTACTGCAG	0.711											OREG0018444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000605938.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14						c.(1867-1869)cGa>cAa		autophagy related 9B							12	16	15					7																	150715385		1973	4121	6094	SO:0001583	missense	285973				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		g.chr7:150715385C>T	AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"nitric oxide synthase 3 antisense", "ATG9 autophagy related 9 homolog B (S. cerevisiae)"	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.1868G>A	7.37:g.150715385C>T	ENSP00000475005:p.Arg623Gln		Somatic	OREG0018444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1734	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.R623Q|ATG9B_ENST00000444312.1_Missense_Mutation_p.R109Q	p.R623Q	NM_173681.5	NP_775952.4	WXS	Illumina GAIIx	Phase_I	Q674R7	ATG9B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	7	1943	-	all_neural(206;0.219)		623					A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37	c.1868G>A		.	.	.	.	.	.	.	.	.	.	C	18.81	3.702292	0.68501	.	.	ENSG00000248602	ENST00000377974;ENST00000444312;ENST00000397266	.	.	.	4.61	2.64	0.31445	.	0.066780	0.56097	D	0.000021	T	0.52092	0.1713	.	.	.	.	.	.	D	0.63046	0.992	P	0.55667	0.781	T	0.63418	-0.6642	7	0.72032	D	0.01	-9.3087	5.0002	0.14261	0.0:0.6604:0.0:0.3396	.	623	Q674R7	ATG9B_HUMAN	Q	623;109;623	.	ENSP00000444232:R623Q	R	-	2	0	AC010973.1	150346318	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	5.635000	0.67841	1.174000	0.42811	0.655000	0.94253	CGA		0.711	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173681		12	27	0	0	0	1	0	12	27					T	150715385	C	T	150715385	3	4	12	1	0	0	0	0	1	0	0	0	1103	884	31	1	933	1	ATG9B	7	150715385	Missense_Mutation	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08	6922663	150715385	8423278	32	837										
CSMD3	114788	broad.mit.edu	37	chr8	113358408	113358408	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	aacccaggactgaggatcacAccactgaagtctgacatagc	9	12	2	3			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr8:113358408A>C	ENST00000297405.5	-	41	6604	c.6360T>G	c.(6358-6360)ggT>ggG	p.G2120G	CSMD3_ENST00000343508.3_Silent_p.G2080G|CSMD3_ENST00000352409.3_Silent_p.G2050G|CSMD3_ENST00000455883.2_Silent_p.G2016G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2120	CUB 12. {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						TGAGGATCACACCACTGAAGT	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(6358-6360)ggT>ggG		CUB and Sushi multiple domains 3							109	109	109					8																	113358408		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113358408A>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.6360T>G	8.37:g.113358408A>C		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000455883.2_Silent_p.G2016G|CSMD3_ENST00000352409.3_Silent_p.G2050G|CSMD3_ENST00000343508.3_Silent_p.G2080G	p.G2120G	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			41	6604	-			2120			CUB 12.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.6360T>G	CCDS6315.1																																																																																				0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		71	48	0	0	0	1	0	71	48					C	113358408	A	C	113358408	2	2	12	1	0	0	0	0	0	0	0	1	3948	146	6	4		4	CSMD3	8	113358408	Silent	SNP	A	TCGA-N5-A4RV-01A-21D-A28R-08		113358408	33005614	33	838										
CSMD3	114788	broad.mit.edu	37	chr8	113585824	113585824	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	gtactactaagtgtcagtccGcgcatagatgcaccagtaaa	9	10	1	1	rs202084967		TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr8:113585824G>A	ENST00000297405.5	-	24	4192	c.3948C>T	c.(3946-3948)cgC>cgT	p.R1316R	CSMD3_ENST00000343508.3_Silent_p.R1276R|CSMD3_ENST00000352409.3_Silent_p.R1316R|CSMD3_ENST00000455883.2_Silent_p.R1212R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1316	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGTCAGTCCGCGCATAGATG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G|||	1	0.000199681	0	0	5008	,	,		15087	0.001		0	False		,,,				2504	0					ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(3946-3948)cgC>cgT		CUB and Sushi multiple domains 3		G	,,	0,4406		0,0,2203	125	125	125		3636,3948,3828	-0.9	1	8		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	1212/3539,1316/3708,1276/3668	113585824	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113585824G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3948C>T	8.37:g.113585824G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000455883.2_Silent_p.R1212R|CSMD3_ENST00000352409.3_Silent_p.R1316R|CSMD3_ENST00000343508.3_Silent_p.R1276R	p.R1316R	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			24	4192	-			1316			CUB 7.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.3948C>T	CCDS6315.1																																																																																				0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		26	143	0	0	0	1	0	26	143					A	113585824	G	A	113585824	2	1	12	1	0	0	0	0	0	0	0	1	3948	1074	38	1		1	CSMD3	8	113585824	Silent	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08	227416	113585824	32778198	34	839										
C8orf76	84933	broad.mit.edu	37	chr8	124250155	124250155	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	gttgatgacaatttttcagaGatactggaatactcctgcag	9	7	1	3			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr8:124250155G>T	ENST00000276704.4	-	3	291	c.240C>A	c.(238-240)atC>atA	p.I80I	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Silent_p.I48I	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	80										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ATTTTTCAGAGATACTGGAAT	0.423																																						ENST00000276704.4																			0				NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17						c.(238-240)atC>atA		chromosome 8 open reading frame 76							60	58	59					8																	124250155		2203	4300	6503	SO:0001819	synonymous_variant	84933						binding	g.chr8:124250155G>T	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.240C>A	8.37:g.124250155G>T			Somatic				ZHX1-C8ORF76_ENST00000357082.4_Silent_p.I48I|C8orf76_ENST00000521310.1_5'UTR	p.I80I	NM_032847.2	NP_116236.1	WXS	Illumina GAIIx	Phase_I	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	291	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		80					Q53HC1	Silent	SNP	ENST00000276704.4	37	c.240C>A	CCDS6341.1																																																																																				0.423	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		34	45	1	0	3.11337e-16	1	3.49305e-16	34	45					T	124250155	G	T	124250155	2	4	12	1	0	0	0	0	0	0	0	1	2439	932	33	2		2	C8orf76	8	124250155	Silent	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08	10664331	124250155	22113867	35	840										
DIRAS2	54769	broad.mit.edu	37	chr9	93375839	93375839	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	gagctcctccaaggactgtcGgctggtaatggagtacacca	12	11	0	0			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr9:93375839G>A	ENST00000375765.3	-	2	659	c.271C>T	c.(271-273)Cga>Tga	p.R91*		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	91					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						AAGGACTGTCGGCTGGTAATG	0.582																																						ENST00000375765.3																			0				kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						c.(271-273)Cga>Tga		DIRAS family, GTP-binding RAS-like 2							122	105	110					9																	93375839		2203	4300	6503	SO:0001587	stop_gained	0				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr9:93375839G>A	AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.271C>T	9.37:g.93375839G>A	ENSP00000364919:p.Arg91*		Somatic					p.R91*	NM_017594.3	NP_060064.2	WXS	Illumina GAIIx	Phase_I	Q96HU8	DIRA2_HUMAN			2	659	-			91					B3KVM2	Nonsense_Mutation	SNP	ENST00000375765.3	37	c.271C>T	CCDS6687.1	.	.	.	.	.	.	.	.	.	.	G	38	7.044053	0.98025	.	.	ENSG00000165023	ENST00000375765	.	.	.	5.21	5.21	0.72293	.	0.140228	0.45361	D	0.000363	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2973	0.60305	0.0:0.0:0.842:0.158	.	.	.	.	X	91	.	ENSP00000364919:R91X	R	-	1	2	DIRAS2	92415659	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.441000	0.52893	2.884000	0.98904	0.655000	0.94253	CGA		0.582	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1			86	4	0	0	0	1	0	86	4					A	93375839	G	A	93375839	4	1	12	1	0	0	0	0	0	1	0	0	4533	1124	39	1	332	1	DIRAS2	9	93375839	Nonsense_Mutation	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08		93375839	47837592	36	841										
NOTCH1	4851	broad.mit.edu	37	chr9	139400313	139400313	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	caggtacgagcgtcattctcAcacgtggcgccctcgaagcc	11	15	2	0			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr9:139400313A>T	ENST00000277541.6	-	25	4110	c.4035T>A	c.(4033-4035)tgT>tgA	p.C1345*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1345	EGF-like 34. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTCATTCTCACACGTGGCGC	0.726			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(4033-4035)tgT>tgA		notch 1							7	10	9					9																	139400313		1803	3759	5562	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139400313A>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4035T>A	9.37:g.139400313A>T	ENSP00000277541:p.Cys1345*	HNSCC(8;0.001)	Somatic					p.C1345*	NM_017617.3	NP_060087.3	WXS	Illumina GAIIx	Phase_I	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	25	4110	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1345			EGF-like 34.		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.4035T>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	A	39	7.315132	0.98207	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.73	-6.75	0.01738	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2482	0.49008	0.2726:0.1215:0.6059:0.0	.	.	.	.	X	1345	.	ENSP00000277541:C1345X	C	-	3	2	NOTCH1	138520134	0.011000	0.17503	0.207000	0.23584	0.082000	0.17680	-0.618000	0.05578	-1.705000	0.01406	-0.307000	0.09154	TGT		0.726	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		9	2	0	0	0	1	0	9	2					T	139400313	A	T	139400313	4	4	12	1	0	0	0	0	0	1	0	0	10556	157	6	4	3672	4	NOTCH1	9	139400313	Nonsense_Mutation	SNP	A	TCGA-N5-A4RV-01A-21D-A28R-08	46024474	139400313	1813118	37	842										
SCD	6319	broad.mit.edu	37	chr10	102108089	102108089	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	gattcctacctgcaagttctAcacctggctttggggtaagc	10	11	1	0			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr10:102108089A>T	ENST00000370355.2	+	2	677	c.296A>T	c.(295-297)tAc>tTc	p.Y99F	RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	99					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)		TGCAAGTTCTACACCTGGCTT	0.493																																					Colon(67;260 1459 9574 11663)	ENST00000370355.2																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(295-297)tAc>tTc		stearoyl-CoA desaturase (delta-9-desaturase)							128	130	129					10																	102108089		2203	4300	6503	SO:0001583	missense	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102108089A>T	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"Fatty acid desaturases"	10571	protein-coding gene	gene with protein product	"acyl-CoA desaturase", "fatty acid desaturase", "delta-9-desaturase"	604031	"stearoyl-CoA desaturase opposite strand"	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.296A>T	10.37:g.102108089A>T	ENSP00000359380:p.Tyr99Phe		Somatic					p.Y99F	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	677	+		Colorectal(252;0.0323)	99					B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Missense_Mutation	SNP	ENST00000370355.2	37	c.296A>T	CCDS7493.1	.	.	.	.	.	.	.	.	.	.	A	4.306	0.056035	0.08291	.	.	ENSG00000099194	ENST00000423840;ENST00000370355	T	0.13420	2.59	5.3	4.14	0.48551	.	0.219468	0.32430	N	0.006117	T	0.11324	0.0276	L	0.53617	1.68	0.30594	N	0.761265	B	0.15930	0.015	B	0.16289	0.015	T	0.22347	-1.0219	10	0.14252	T	0.57	-30.7042	5.5614	0.17146	0.6712:0.0:0.0733:0.2555	.	99	O00767	ACOD_HUMAN	F	99	ENSP00000359380:Y99F	ENSP00000359380:Y99F	Y	+	2	0	SCD	102098079	0.001000	0.12720	0.937000	0.37676	0.145000	0.21501	0.868000	0.27982	0.924000	0.37069	0.379000	0.24179	TAC		0.493	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		95	68	0	0	0	1	0	95	68					T	102108089	A	T	102108089	3	4	12	1	0	0	0	0	1	0	0	0	13901	391	14	4	302	4	SCD	10	102108089	Missense_Mutation	SNP	A	TCGA-N5-A4RV-01A-21D-A28R-08		102108089	33426658	38	843										
GPR137	56834	broad.mit.edu	37	chr11	64056826	64056826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	cctgtcatagtgagcttgtgCcgtccccctaggatgggggg	15	11	1	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr11:64056826C>T	ENST00000313074.3	+	7	1348	c.1243C>T	c.(1243-1245)Ccg>Tcg	p.P415S	RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000394525.2_5'Flank|GPR137_ENST00000438980.2_3'UTR|KCNK4_ENST00000422670.2_5'Flank|KCNK4_ENST00000538767.1_5'Flank|GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000411458.1_Missense_Mutation_p.P473S|GPR137_ENST00000377702.4_3'UTR	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	415						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGAGCTTGTGCCGTCCCCCTA	0.647																																						ENST00000411458.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(1417-1419)Ccg>Tcg		G protein-coupled receptor 137							61	61	61					11																	64056826		2201	4297	6498	SO:0001583	missense	56834					integral to membrane		g.chr11:64056826C>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.1243C>T	11.37:g.64056826C>T	ENSP00000321698:p.Pro415Ser		Somatic				GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000438980.2_3'UTR|GPR137_ENST00000313074.3_Missense_Mutation_p.P415S|GPR137_ENST00000377702.4_3'UTR	p.P473S	NM_001170726.1	NP_001164197.1	WXS	Illumina GAIIx	Phase_I	Q96N19	G137A_HUMAN			9	1445	+			415					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	37	c.1417C>T	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	C	9.310	1.055330	0.19907	.	.	ENSG00000173264	ENST00000411458;ENST00000313074	T;T	0.51574	0.7;0.85	5.27	3.38	0.38709	.	1.323320	0.05536	N	0.564845	T	0.30293	0.0760	N	0.08118	0	0.58432	D	0.999993	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.06991	-1.0796	10	0.49607	T	0.09	-0.0272	7.3883	0.26895	0.0:0.7394:0.1696:0.091	.	473;415	B4DTG7;Q96N19	.;G137A_HUMAN	S	473;415	ENSP00000411827:P473S;ENSP00000321698:P415S	ENSP00000321698:P415S	P	+	1	0	GPR137	63813402	0.698000	0.27777	0.584000	0.28653	0.551000	0.35334	1.531000	0.36018	0.718000	0.32166	0.561000	0.74099	CCG		0.647	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		5	98	0	0	0	1	0	5	98					T	64056826	C	T	64056826	3	4	12	1	0	0	0	0	1	0	0	0	6653	739	26	3	1557	3	GPR137	11	64056826	Missense_Mutation	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08		64056826	70949690	39	844										
CCDC88B	283234	broad.mit.edu	37	chr11	64111265	64111265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	ctcagcacccctagcaggagCggccccctcgctgcaagatg	11	17	1	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr11:64111265C>T	ENST00000356786.5	+	13	1378	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	445						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTAGCAGGAGCGGCCCCCTCG	0.637																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1333-1335)gCg>gTg		coiled-coil domain containing 88B							19	24	22					11																	64111265		2153	4255	6408	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64111265C>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.1334C>T	11.37:g.64111265C>T	ENSP00000349238:p.Ala445Val		Somatic				CCDC88B_ENST00000463837.1_3'UTR	p.A445V	NM_032251.5	NP_115627.6	WXS	Illumina GAIIx	Phase_I	A6NC98	CC88B_HUMAN			13	1378	+			445					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.1334C>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	c	8.252	0.809213	0.16537	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.20598	2.06	3.53	-6.29	0.02013	.	.	.	.	.	T	0.09024	0.0223	N	0.12746	0.255	0.09310	N	0.999999	B;B;B	0.16396	0.017;0.003;0.017	B;B;B	0.09377	0.004;0.002;0.004	T	0.34329	-0.9833	9	0.32370	T	0.25	.	7.4698	0.27342	0.0:0.6326:0.1416:0.2258	.	445;94;445	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	V	445	ENSP00000349238:A445V	ENSP00000349238:A445V	A	+	2	0	CCDC88B	63867841	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.261000	0.08694	-1.040000	0.03271	-0.390000	0.06520	GCG		0.637	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		6	10	0	0	0	1	0	6	10					T	64111265	C	T	64111265	3	4	12	1	0	0	0	0	1	0	0	0	2866	768	27	1	1384	1	CCDC88B	11	64111265	Missense_Mutation	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08	54439	64111265	70895251	40	845										
CATSPER1	117144	broad.mit.edu	37	chr11	65784607	65784607	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	gctgctcctgctccacgcttGccaccagctgcaggtaatgg	11	15	0	0			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr11:65784607G>T	ENST00000312106.5	-	11	2377	c.2240C>A	c.(2239-2241)gCa>gAa	p.A747E		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	747					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						CTCCACGCTTGCCACCAGCTG	0.642																																						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.(2239-2241)gCa>gAa		cation channel, sperm associated 1							44	36	39					11																	65784607		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65784607G>T	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.2240C>A	11.37:g.65784607G>T	ENSP00000309052:p.Ala747Glu		Somatic					p.A747E	NM_053054.3	NP_444282.3	WXS	Illumina GAIIx	Phase_I	Q8NEC5	CTSR1_HUMAN			11	2377	-			747					Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.2240C>A	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795418	0.50208	.	.	ENSG00000175294	ENST00000312106	D	0.98178	-4.77	5.39	3.45	0.39498	.	0.329918	0.17462	N	0.173420	D	0.93890	0.8045	N	0.20986	0.625	0.31070	N	0.713126	P	0.42409	0.779	B	0.35182	0.197	D	0.90962	0.4813	10	0.27785	T	0.31	-6.5401	10.8461	0.46744	0.0:0.0:0.6567:0.3433	.	747	Q8NEC5	CTSR1_HUMAN	E	747	ENSP00000309052:A747E	ENSP00000309052:A747E	A	-	2	0	CATSPER1	65541183	0.997000	0.39634	0.586000	0.28679	0.425000	0.31504	2.965000	0.49200	0.599000	0.29845	0.644000	0.83932	GCA		0.642	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		13	16	1	0	0.00185496	1	0.00189618	13	16					T	65784607	G	T	65784607	3	4	12	1	0	0	0	0	1	0	0	0	2689	1319	46	5	110	5	CATSPER1	11	65784607	Missense_Mutation	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08	1673342	65784607	69221909	41	846										
DYNC2H1	79659	broad.mit.edu	37	chr11	103182702	103182702	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	aatacacatcgagctcatgcTctcttcagtcttgcatggtt	7	11	4	0			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr11:103182702T>C	ENST00000375735.2	+	79	11733	c.11589T>C	c.(11587-11589)gcT>gcC	p.A3863A	DYNC2H1_ENST00000398093.3_Silent_p.A3870A|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	3863	AAA 6. {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)		GAGCTCATGCTCTCTTCAGTC	0.363																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(11587-11589)gcT>gcC		dynein, cytoplasmic 2, heavy chain 1							119	117	117					11																	103182702		1855	4100	5955	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.chr11:103182702T>C	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.11589T>C	11.37:g.103182702T>C			Somatic				DYNC2H1_ENST00000398093.3_Silent_p.A3870A|DYNC2H1_ENST00000334267.7_Intron	p.A3863A	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)	79	11733	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3863			AAA 6 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.11589T>C	CCDS53701.1																																																																																				0.363	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		45	4	0	0	0	1	0	45	4					C	103182702	T	C	103182702	2	2	12	1	0	0	0	0	0	0	0	1	4848	1538	54	4		4	DYNC2H1	11	103182702	Silent	SNP	T	TCGA-N5-A4RV-01A-21D-A28R-08	37398095	103182702	31823814	42	847										
PDZD3	79849	broad.mit.edu	37	chr11	119057301	119057301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	ctgggcatgtggtgtgcaggGtggacccaggcacctctgcc	16	12	1	0			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr11:119057301G>A	ENST00000531114.1	+	2	979	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	PDZD3_ENST00000392817.2_Missense_Mutation_p.V144M|PDZD3_ENST00000525131.1_Missense_Mutation_p.V65M|PDZD3_ENST00000322712.4_Missense_Mutation_p.V78M|PDZD3_ENST00000355547.5_Missense_Mutation_p.V78M			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	144	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GGTGTGCAGGGTGGACCCAGG	0.597																																						ENST00000531114.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14						c.(430-432)Gtg>Atg		PDZ domain containing 3							62	50	54					11																	119057301		2200	4295	6495	SO:0001583	missense	79849				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding	g.chr11:119057301G>A	AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"PDZ domain containing 2"	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.430G>A	11.37:g.119057301G>A	ENSP00000431164:p.Val144Met		Somatic				PDZD3_ENST00000355547.5_Missense_Mutation_p.V78M|PDZD3_ENST00000322712.4_Missense_Mutation_p.V78M|PDZD3_ENST00000525131.1_Missense_Mutation_p.V65M|PDZD3_ENST00000392817.2_Missense_Mutation_p.V144M	p.V144M			WXS	Illumina GAIIx	Phase_I	Q86UT5	NHRF4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)	2	979	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	144			PDZ 1.		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	ENST00000531114.1	37	c.430G>A		.	.	.	.	.	.	.	.	.	.	G	26.3	4.728641	0.89390	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.60424	1.05;0.19;1.05;1.05;0.19	5.28	5.28	0.74379	PDZ/DHR/GLGF (4);	0.074264	0.53938	D	0.000051	T	0.81569	0.4850	M	0.92317	3.295	0.48135	D	0.999598	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.994;0.996	D	0.85673	0.1296	10	0.87932	D	0	-21.9128	16.1461	0.81569	0.0:0.1331:0.8669:0.0	.	65;144;78;78	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	M	65;144;78;78;78;144	ENSP00000434559:V65M;ENSP00000431164:V144M;ENSP00000347742:V78M;ENSP00000327107:V78M;ENSP00000376564:V144M	ENSP00000327107:V78M	V	+	1	0	PDZD3	118562511	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.545000	0.60698	2.755000	0.94549	0.655000	0.94253	GTG		0.597	PDZD3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388471.1	NM_024791		45	1	0	0	0	1	0	45	1					A	119057301	G	A	119057301	3	1	12	1	0	0	0	0	1	0	0	0	11711	1261	44	3	246	3	PDZD3	11	119057301	Missense_Mutation	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08	15874599	119057301	15949215	43	848										
CHD4	1108	broad.mit.edu	37	chr12	6700933	6700933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	tctgcagcagcaataatttcCcagatgctctgattagggca	9	10	2	2			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr12:6700933C>T	ENST00000357008.2	-	21	3312	c.3149G>A	c.(3148-3150)gGg>gAg	p.G1050E	CHD4_ENST00000309577.6_Missense_Mutation_p.G1050E|CHD4_ENST00000544040.1_Missense_Mutation_p.G1043E|CHD4_ENST00000544484.1_Missense_Mutation_p.G1047E	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						CAATAATTTCCCAGATGCTCT	0.443																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(3148-3150)gGg>gAg		chromodomain helicase DNA binding protein 4							101	96	98					12																	6700933		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.chr12:6700933C>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.3149G>A	12.37:g.6700933C>T	ENSP00000349508:p.Gly1050Glu		Somatic				CHD4_ENST00000357008.2_Missense_Mutation_p.G1050E|CHD4_ENST00000544484.1_Missense_Mutation_p.G1047E|CHD4_ENST00000544040.1_Missense_Mutation_p.G1043E	p.G1050E			WXS	Illumina GAIIx	Phase_I	Q14839	CHD4_HUMAN			21	3312	-			1050					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3149G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077966	0.76528	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.96595	0.8889	H	0.98866	4.355	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	0.98537	1.0630	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;.	E	1047;1043;1050;1050;1024	ENSP00000440392:G1047E;ENSP00000440542:G1043E;ENSP00000312419:G1050E;ENSP00000349508:G1050E	ENSP00000312419:G1050E	G	-	2	0	CHD4	6571194	1.000000	0.71417	0.998000	0.56505	0.230000	0.25150	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		65	3	0	0	0	1	0	65	3					T	6700933	C	T	6700933	3	4	12	1	0	0	0	0	1	0	0	0	3329	623	22	3	2669	3	CHD4	12	6700933	Missense_Mutation	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08		6700933	127150962	44	849										
MLL2	8085	broad.mit.edu	37	chr12	49415614	49415614	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	ccacagtggcaggggatcttGtgctgatcgtcctcaaaatc	11	11	2	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr12:49415614G>C	ENST00000301067.7	-	54	16562	c.16563C>G	c.(16561-16563)caC>caG	p.H5521Q	RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000548065.1_5'Flank|RP11-386G11.5_ENST00000547866.1_RNA	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5521	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)										AGGGGATCTTGTGCTGATCGT	0.512																																						ENST00000301067.7																			0											c.(16561-16563)caC>caG		lysine (K)-specific methyltransferase 2D							74	73	73					12																	49415614		1957	4157	6114	SO:0001583	missense	8085							g.chr12:49415614G>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.16563C>G	12.37:g.49415614G>C	ENSP00000301067:p.His5521Gln		Somatic					p.H5521Q	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					54	16562	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.16563C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	g	10.71	1.427720	0.25726	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.85171	-1.95;-1.95	4.31	4.31	0.51392	Post-SET domain (2);	0.000000	0.38164	N	0.001798	T	0.82001	0.4942	N	0.03000	-0.44	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.87676	0.2544	10	0.87932	D	0	.	16.1483	0.81586	0.0:0.0:1.0:0.0	.	5521	O14686	MLL2_HUMAN	Q	5521;202	ENSP00000301067:H5521Q;ENSP00000435714:H202Q	ENSP00000301067:H5521Q	H	-	3	2	MLL2	47701881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.626000	0.83164	2.423000	0.82170	0.456000	0.33151	CAC		0.512	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			13	42	0	0	0	1	0	13	42					C	49415614	G	C	49415614	3	2	12	1	0	0	0	0	1	0	0	0	9630	1368	48	5	54	5	MLL2	12	49415614	Missense_Mutation	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08	42714681	49415614	84436281	45	850										
ACACB	32	broad.mit.edu	37	chr12	109696795	109696795	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	cagataattcagcaggcaggAcaggtgtggttcccagactc	12	10	1	2			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr12:109696795A>G	ENST00000338432.7	+	47	6497	c.6378A>G	c.(6376-6378)ggA>ggG	p.G2126G	ACACB_ENST00000543201.1_Silent_p.G792G|ACACB_ENST00000377848.3_Silent_p.G2126G|ACACB_ENST00000377854.5_Silent_p.G2056G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2126	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AGCAGGCAGGACAGGTGTGGT	0.577											OREG0007682	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ACACB|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										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.(6376-6378)ggA>ggG		acetyl-CoA carboxylase beta	Biotin(DB00121)						140	140	140					12																	109696795		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.chr12:109696795A>G	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.6378A>G	12.37:g.109696795A>G			Somatic	OREG0007682	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ACACB|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1421	ACACB_ENST00000377854.5_Silent_p.G2056G|ACACB_ENST00000543201.1_Silent_p.G792G|ACACB_ENST00000377848.3_Silent_p.G2126G	p.G2126G			WXS	Illumina GAIIx	Phase_I	O00763	ACACB_HUMAN			47	6497	+			2126			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.6378A>G	CCDS31898.1																																																																																				0.577	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		44	188	0	0	0	1	0	44	188					G	109696795	A	G	109696795	2	3	12	1	0	0	0	0	0	0	0	1	107	262	10	4		4	ACACB	12	109696795	Silent	SNP	A	TCGA-N5-A4RV-01A-21D-A28R-08	60281181	109696795	24155100	46	851										
RB1	5925	broad.mit.edu	37	chr13	49033926	49033926	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	gacccttttccagcacacccTgcagaatgagtatgaactca	7	13	1	3			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr13:49033926T>G	ENST00000267163.4	+	20	2201	c.2063T>G	c.(2062-2064)cTg>cGg	p.L688R		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	688	Domain B.|Pocket; binds T and E1A.				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.?(11)|p.L688P(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CAGCACACCCTGCAGAATGAG	0.443		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"		27	Whole gene deletion(15)|Unknown(11)|Substitution - Missense(1)	p.0?(15)|p.?(11)|p.L688P(1)	bone(10)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|eye(2)|adrenal_gland(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM074471	RB1	M		c.(2062-2064)cTg>cGg		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						87	82	83					13																	49033926		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.chr13:49033926T>G	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.2063T>G	13.37:g.49033926T>G	ENSP00000267163:p.Leu688Arg	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	Somatic					p.L688R	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)	20	2201	+		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)	688			Domain B.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.2063T>G	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501368	0.85176	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.93953	-3.32	5.48	5.48	0.80851	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.000000	0.64402	D	0.000007	D	0.97328	0.9126	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98283	1.0509	10	0.87932	D	0	-7.9392	15.5642	0.76277	0.0:0.0:0.0:1.0	.	688	P06400	RB_HUMAN	R	667;688	ENSP00000267163:L688R	ENSP00000267163:L688R	L	+	2	0	RB1	47931927	1.000000	0.71417	0.990000	0.47175	0.905000	0.53344	7.698000	0.84413	2.086000	0.62901	0.477000	0.44152	CTG		0.443	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			34	1	0	0	0	1	0	34	1					G	49033926	T	G	49033926	3	3	12	1	0	0	0	0	1	0	0	0	13113	1580	55	4	2141	4	RB1	13	49033926	Missense_Mutation	SNP	T	TCGA-N5-A4RV-01A-21D-A28R-08		49033926	66135952	47	852										
CAPN3	825	broad.mit.edu	37	chr15	42693949	42693949	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	tggccctgatgcagaagaacCggcggaaggaccggaagcta	15	10	0	3			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr15:42693949C>G	ENST00000397163.3	+	11	1684	c.1465C>G	c.(1465-1467)Cgg>Ggg	p.R489G	CAPN3_ENST00000397200.4_5'Flank|CAPN3_ENST00000356316.3_Missense_Mutation_p.R402G|CAPN3_ENST00000349748.3_Missense_Mutation_p.R441G|CAPN3_ENST00000318023.7_Missense_Mutation_p.R489G|CAPN3_ENST00000357568.3_Missense_Mutation_p.R489G|RP11-164J13.1_ENST00000495723.1_RNA	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	489	Domain III.		R -> Q (in LGMD2A).|R -> W (in LGMD2A). {ECO:0000269|PubMed:9762961}.		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)		GCAGAAGAACCGGCGGAAGGA	0.572																																						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	GRCh37	CM980303	CAPN3	M		c.(1465-1467)Cgg>Ggg		calpain 3, (p94)							77	65	69					15																	42693949		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.chr15:42693949C>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.1465C>G	15.37:g.42693949C>G	ENSP00000380349:p.Arg489Gly		Somatic				CAPN3_ENST00000357568.3_Missense_Mutation_p.R489G|CAPN3_ENST00000349748.3_Missense_Mutation_p.R441G|CAPN3_ENST00000356316.3_Missense_Mutation_p.R402G|CAPN3_ENST00000318023.7_Missense_Mutation_p.R489G|RP11-164J13.1_ENST00000495723.1_RNA	p.R489G	NM_000070.2	NP_000061.1	WXS	Illumina GAIIx	Phase_I	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	11	1684	+		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)	489		R -> Q (in LGMD2A).|R -> W (in LGMD2A).	Domain III.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.1465C>G	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934872	0.52866	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43	4.54	-0.179	0.13299	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	U	0.000000	D	0.93651	0.7972	M	0.84156	2.68	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;0.999	D	0.93270	0.6651	10	0.66056	D	0.02	.	13.8783	0.63667	0.6099:0.3901:0.0:0.0	.	354;402;441;489;489;402	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	G	402;489;489;441;489	ENSP00000348667:R402G;ENSP00000380349:R489G;ENSP00000350181:R489G;ENSP00000183936:R441G;ENSP00000326281:R489G	ENSP00000326281:R489G	R	+	1	2	CAPN3	40481241	0.993000	0.37304	0.993000	0.49108	0.703000	0.40648	0.903000	0.28475	0.142000	0.18901	-0.311000	0.09066	CGG		0.572	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			10	39	0	0	0	1	0	10	39					G	42693949	C	G	42693949	3	3	12	1	0	0	0	0	1	0	0	0	2630	643	23	5	1559	5	CAPN3	15	42693949	Missense_Mutation	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08		42693949	59837443	48	853										
UACA	55075	broad.mit.edu	37	chr15	70959158	70959158	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	cttatcacatcgttccttctGatccttaatttcttgctcaa	3	12	4	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr15:70959158G>C	ENST00000322954.6	-	16	4050	c.3865C>G	c.(3865-3867)Cag>Gag	p.Q1289E	UACA_ENST00000379983.2_Missense_Mutation_p.Q1276E|UACA_ENST00000560441.1_Missense_Mutation_p.Q1274E|UACA_ENST00000539319.1_Missense_Mutation_p.Q1180E	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1289					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						CGTTCCTTCTGATCCTTAATT	0.348																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(3865-3867)Cag>Gag		uveal autoantigen with coiled-coil domains and ankyrin repeats							176	156	163					15																	70959158		2199	4298	6497	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70959158G>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.3865C>G	15.37:g.70959158G>C	ENSP00000314556:p.Gln1289Glu		Somatic				UACA_ENST00000560441.1_Missense_Mutation_p.Q1274E|UACA_ENST00000379983.2_Missense_Mutation_p.Q1276E|UACA_ENST00000539319.1_Missense_Mutation_p.Q1180E	p.Q1289E	NM_018003.2	NP_060473.2	WXS	Illumina GAIIx	Phase_I	Q9BZF9	UACA_HUMAN			16	4050	-			1289					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.3865C>G	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266070	0.80358	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.37235	1.21;1.22;1.69	5.85	5.85	0.93711	.	0.202030	0.35235	N	0.003360	T	0.58148	0.2102	M	0.70595	2.14	0.46298	D	0.99897	D;P;D;D	0.57257	0.961;0.934;0.962;0.979	P;P;P;P	0.58077	0.74;0.554;0.554;0.832	T	0.58668	-0.7596	10	0.66056	D	0.02	-19.5858	20.1577	0.98120	0.0:0.0:1.0:0.0	.	1180;1289;1289;1276	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	E	1289;1276;1180	ENSP00000314556:Q1289E;ENSP00000369319:Q1276E;ENSP00000438667:Q1180E	ENSP00000314556:Q1289E	Q	-	1	0	UACA	68746212	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.287000	0.78681	2.767000	0.95098	0.655000	0.94253	CAG		0.348	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			7	50	0	0	0	1	0	7	50					C	70959158	G	C	70959158	3	2	12	1	0	0	0	0	1	0	0	0	16839	1299	45	2	401	2	UACA	15	70959158	Missense_Mutation	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08	28265209	70959158	31572234	49	854										
KIAA0895L	653319	broad.mit.edu	37	chr16	67214278	67214278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	cagagtaggtgctctcactgCgacgcatgtggccacggtgg	15	11	1	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr16:67214278C>T	ENST00000290881.7	-	3	1162	c.236G>A	c.(235-237)cGc>cAc	p.R79H	KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R79H|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R79H			Q68EN5	K895L_HUMAN	KIAA0895-like	79										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GCTCTCACTGCGACGCATGTG	0.692																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(235-237)cGc>cAc		KIAA0895-like							15	19	17					16																	67214278		2006	4154	6160	SO:0001583	missense	653319							g.chr16:67214278C>T	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.236G>A	16.37:g.67214278C>T	ENSP00000290881:p.Arg79His		Somatic				KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R79H|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R79H	p.R79H			WXS	Illumina GAIIx	Phase_I	Q68EN5	K895L_HUMAN			3	1162	-			79					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	c.236G>A	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035458	0.93630	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.6	4.6	0.57074	.	0.055709	0.64402	D	0.000001	T	0.75532	0.3862	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.77856	-0.2432	9	0.72032	D	0.01	-19.1862	15.2995	0.73936	0.0:1.0:0.0:0.0	.	79;79	Q68EN5-2;Q68EN5	.;K895L_HUMAN	H	79	.	ENSP00000290881:R79H	R	-	2	0	KIAA0895L	65771779	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	4.657000	0.61490	2.536000	0.85505	0.650000	0.86243	CGC		0.692	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		7	6	0	0	0	1	0	7	6					T	67214278	C	T	67214278	3	4	12	1	0	0	0	0	1	0	0	0	8207	768	27	1	1203	1	KIAA0895L	16	67214278	Missense_Mutation	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08		67214278	23140475	50	855										
CNTNAP4	85445	broad.mit.edu	37	chr16	76555943	76555943	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	gtaatatttccagctccgacAgtagtgactttttcatttga	7	8	1	2			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr16:76555943A>T	ENST00000476707.1	+	16	2692	c.2553A>T	c.(2551-2553)acA>acT	p.T851T	CNTNAP4_ENST00000478060.1_Silent_p.T775T|CNTNAP4_ENST00000377504.4_Silent_p.T799T|CNTNAP4_ENST00000307431.8_Silent_p.T847T|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	848	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGCTCCGACAGTAGTGACTT	0.453																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(2539-2541)acA>acT		contactin associated protein-like 4							177	174	175					16																	76555943		1955	4172	6127	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76555943A>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2553A>T	16.37:g.76555943A>T			Somatic				CNTNAP4_ENST00000377504.4_Silent_p.T799T|CNTNAP4_ENST00000478060.1_Silent_p.T775T|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.T851T	p.T847T	NM_033401.3	NP_207837.2	WXS	Illumina GAIIx	Phase_I	Q9C0A0	CNTP4_HUMAN			18	2926	+			848			Laminin G-like 3.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.2541A>T																																																																																					0.453	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		47	103	0	0	0	1	0	47	103					T	76555943	A	T	76555943	2	4	12	1	0	0	0	0	0	0	0	1	3651	175	7	4		4	CNTNAP4	16	76555943	Silent	SNP	A	TCGA-N5-A4RV-01A-21D-A28R-08	9341665	76555943	13798810	51	856										
USP10	9100	broad.mit.edu	37	chr16	84792334	84792334	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	tctttcagagttgctggagaAtgtaaccctaatccataaac	7	9	2	2			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr16:84792334A>G	ENST00000219473.7	+	5	1318	c.1205A>G	c.(1204-1206)aAt>aGt	p.N402S	USP10_ENST00000570191.1_Missense_Mutation_p.N406S	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	402					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						TTGCTGGAGAATGTAACCCTA	0.438																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(1204-1206)aAt>aGt		ubiquitin specific peptidase 10							147	141	143					16																	84792334		1920	4109	6029	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.chr16:84792334A>G	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.1205A>G	16.37:g.84792334A>G	ENSP00000219473:p.Asn402Ser		Somatic				USP10_ENST00000570191.1_Missense_Mutation_p.N406S	p.N402S	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	WXS	Illumina GAIIx	Phase_I	Q14694	UBP10_HUMAN			5	1318	+			402					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.1205A>G	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.745599	0.30955	.	.	ENSG00000103194	ENST00000219473	T	0.07327	3.2	5.48	3.12	0.35913	.	1.583880	0.03087	N	0.159279	T	0.12390	0.0301	L	0.50333	1.59	0.37620	D	0.921262	B;B	0.13594	0.008;0.001	B;B	0.19148	0.024;0.004	T	0.27331	-1.0077	10	0.22109	T	0.4	-14.6059	12.1334	0.53957	0.6964:0.3036:0.0:0.0	.	406;402	Q14694-3;Q14694	.;UBP10_HUMAN	S	402	ENSP00000219473:N402S	ENSP00000219473:N402S	N	+	2	0	USP10	83349835	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.679000	0.61649	0.405000	0.25532	0.528000	0.53228	AAT		0.438	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			24	52	0	0	0	1	0	24	52					G	84792334	A	G	84792334	3	3	12	1	0	0	0	0	1	0	0	0	17056	101	4	4	1223	4	USP10	16	84792334	Missense_Mutation	SNP	A	TCGA-N5-A4RV-01A-21D-A28R-08	8236391	84792334	5562419	52	857										
TP53	7157	broad.mit.edu	37	chr17	7578502	7578502	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	tggaatcaacccacagctgcAcagggcaggtcttggccagt	12	12	2	0			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:7578502A>C	ENST00000269305.4	-	5	617	c.428T>G	c.(427-429)gTg>gGg	p.V143G	TP53_ENST00000420246.2_Missense_Mutation_p.V143G|TP53_ENST00000413465.2_Missense_Mutation_p.V143G|TP53_ENST00000445888.2_Missense_Mutation_p.V143G|TP53_ENST00000359597.4_Missense_Mutation_p.V143G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V143G	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	143	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; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius; severely represses interaction with ZNF385A).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(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)	CCACAGCTGCACAGGGCAGGT	0.587		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"		42	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - In frame(4)|Deletion - Frameshift(2)	p.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1)	large_intestine(10)|stomach(7)|breast(6)|bone(4)|lung(3)|ovary(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|oesophagus(2)|vulva(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(427-429)gTg>gGg	Other conserved DNA damage response genes	tumor protein p53							57	56	56					17																	7578502		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.chr17:7578502A>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.428T>G	17.37:g.7578502A>C	ENSP00000269305:p.Val143Gly	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.V143G|TP53_ENST00000359597.4_Missense_Mutation_p.V143G|TP53_ENST00000413465.2_Missense_Mutation_p.V143G|TP53_ENST00000269305.4_Missense_Mutation_p.V143G|TP53_ENST00000455263.2_Missense_Mutation_p.V143G	p.V143G	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	560	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	143		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.428T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.125835	0.37533	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.48	1.94	0.25998	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.343688	0.28219	N	0.016151	D	0.99697	0.9885	M	0.87381	2.88	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	0.91635	0.997;0.998;0.99;0.998;0.999;0.999;0.998	D	0.99035	1.0822	10	0.87932	D	0	-32.0412	3.2523	0.06819	0.6411:0.1439:0.0771:0.1378	.	104;143;143;50;143;143;143	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	143;143;143;143;143;143;132;50;11;50;11;143	ENSP00000410739:V143G;ENSP00000352610:V143G;ENSP00000269305:V143G;ENSP00000398846:V143G;ENSP00000391127:V143G;ENSP00000391478:V143G;ENSP00000425104:V11G;ENSP00000423862:V50G;ENSP00000424104:V143G	ENSP00000269305:V143G	V	-	2	0	TP53	7519227	1.000000	0.71417	0.664000	0.29753	0.012000	0.07955	9.264000	0.95635	0.097000	0.17492	-0.336000	0.08194	GTG		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		36	1	0	0	0	1	0	36	1					C	7578502	A	C	7578502	3	2	12	1	0	0	0	0	1	0	0	0	16396	159	6	4	870	4	TP53	17	7578502	Missense_Mutation	SNP	A	TCGA-N5-A4RV-01A-21D-A28R-08		7578502	73616708	53	858										
SARM1	23098	broad.mit.edu	37	chr17	26715423	26715423	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	agtgtcttcattgatgtggaGaagctggaagcaggcaagtt	14	5	2	2			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:26715423G>C	ENST00000457710.3	+	7	2157	c.1686G>C	c.(1684-1686)gaG>gaC	p.E562D	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	596	TIR.				innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TTGATGTGGAGAAGCTGGAAG	0.547																																						ENST00000457710.3																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1684-1686)gaG>gaC		sterile alpha and TIR motif containing 1							113	95	101					17																	26715423		2203	4300	6503	SO:0001583	missense	23098				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity	g.chr17:26715423G>C	AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"Sterile alpha motif (SAM) domain containing"	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.1686G>C	17.37:g.26715423G>C	ENSP00000406738:p.Glu562Asp		Somatic				SARM1_ENST00000379061.4_3'UTR	p.E562D	NM_015077.2	NP_055892.2	WXS	Illumina GAIIx	Phase_I	Q6SZW1	SARM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	7	2157	+	all_lung(13;0.000533)|Lung NSC(42;0.00171)		596			TIR.		O60277|Q7LGG3|Q9NXY5	Missense_Mutation	SNP	ENST00000457710.3	37	c.1686G>C		.	.	.	.	.	.	.	.	.	.	G	16.20	3.056676	0.55325	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	5.39	2.19	0.27852	Toll/interleukin-1 receptor homology (TIR) domain (2);	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	.	.	.	0.47659	D	0.999489	D	0.76494	0.999	D	0.80764	0.994	T	0.62774	-0.6783	8	0.22109	T	0.4	-33.7307	9.7377	0.40397	0.2449:0.0:0.7551:0.0	.	596	Q6SZW1	SARM1_HUMAN	D	594;562	.	ENSP00000003834:E562D	E	+	3	2	SARM1	23739550	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.408000	0.52651	0.840000	0.34995	0.655000	0.94253	GAG		0.547	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000255679.3	NM_015077		30	43	0	0	0	1	0	30	43					C	26715423	G	C	26715423	3	2	12	1	0	0	0	0	1	0	0	0	13857	933	33	2	1812	2	SARM1	17	26715423	Missense_Mutation	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08	19136921	26715423	54479787	54	859										
SLC25A39	51629	broad.mit.edu	37	chr17	42398463	42398463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	cgaagggcagtggggccccaGcccagccacagtgagcgcca	15	15	0	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:42398463G>A	ENST00000377095.5	-	8	773	c.654C>T	c.(652-654)ggC>ggT	p.G218G	SLC25A39_ENST00000537904.2_Silent_p.G195G|SLC25A39_ENST00000590194.1_Silent_p.G210G|SLC25A39_ENST00000225308.8_Silent_p.G210G|SLC25A39_ENST00000586016.1_Silent_p.G86G	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	218					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGGGGCCCCAGCCCAGCCACA	0.637																																						ENST00000225308.8																			0				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(628-630)ggC>ggT		solute carrier family 25, member 39							24	22	23					17																	42398463		2200	4298	6498	SO:0001819	synonymous_variant	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42398463G>A	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"Solute carriers"	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.654C>T	17.37:g.42398463G>A			Somatic				SLC25A39_ENST00000590194.1_Silent_p.G210G|SLC25A39_ENST00000537904.2_Silent_p.G195G|SLC25A39_ENST00000586016.1_Silent_p.G86G|SLC25A39_ENST00000377095.5_Silent_p.G218G	p.G210G	NM_016016.2	NP_057100.1	WXS	Illumina GAIIx	Phase_I	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	8	804	-		Prostate(33;0.0233)	218					A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Silent	SNP	ENST00000377095.5	37	c.630C>T	CCDS45700.1																																																																																				0.637	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		10	36	0	0	0	1	0	10	36					A	42398463	G	A	42398463	2	1	12	1	0	0	0	0	0	0	0	1	14518	958	34	3		3	SLC25A39	17	42398463	Silent	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08	15683040	42398463	38796747	55	860										
FZD2	2535	broad.mit.edu	37	chr17	42636744	42636744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	caacagccgacacggtgagaCcaccgtgtgagggacgcccc	13	15	0	2			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:42636744C>T	ENST00000315323.3	+	1	1820	c.1688C>T	c.(1687-1689)aCc>aTc	p.T563I		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	563					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)			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)		CACGGTGAGACCACCGTGTGA	0.597																																						ENST00000315323.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1687-1689)aCc>aTc		frizzled family receptor 2							15	15	15					17																	42636744		2203	4299	6502	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.chr17:42636744C>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.1688C>T	17.37:g.42636744C>T	ENSP00000323901:p.Thr563Ile		Somatic					p.T563I	NM_001466.3	NP_001457.1	WXS	Illumina GAIIx	Phase_I	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1820	+		Prostate(33;0.0181)	563					Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.1688C>T	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	c	18.16	3.563268	0.65538	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	T	0.74737	-0.87	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	M	0.73962	2.25	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	D	0.86994	0.2112	10	0.72032	D	0.01	.	17.6599	0.88189	0.0:1.0:0.0:0.0	.	563	Q14332	FZD2_HUMAN	I	639;563	ENSP00000323901:T563I	ENSP00000323901:T563I	T	+	2	0	FZD2	39992270	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	7.764000	0.85297	2.236000	0.73375	0.555000	0.69702	ACC		0.597	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		19	12	0	0	0	1	0	19	12					T	42636744	C	T	42636744	3	4	12	1	0	0	0	0	1	0	0	0	6138	507	18	3	1690	3	FZD2	17	42636744	Missense_Mutation	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08	238281	42636744	38558466	56	861										
BZRAP1	9256	broad.mit.edu	37	chr17	56386693	56386693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	gggcagctccaggatctgctCcaagatctcctcatcgctgt	10	14	3	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:56386693C>T	ENST00000343736.4	-	22	4103	c.3940G>A	c.(3940-3942)Gag>Aag	p.E1314K	BZRAP1_ENST00000355701.3_Missense_Mutation_p.E1314K|BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1254K			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1314						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGATCTGCTCCAAGATCTCC	0.577																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3940-3942)Gag>Aag		benzodiazapine receptor (peripheral) associated protein 1							53	54	54					17																	56386693		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56386693C>T	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.3940G>A	17.37:g.56386693C>T	ENSP00000345824:p.Glu1314Lys		Somatic				BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1254K|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E1314K	p.E1314K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	WXS	Illumina GAIIx	Phase_I	O95153	RIMB1_HUMAN			22	4810	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1314					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.3940G>A	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	c	26.6	4.749466	0.89753	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	D;D;D	0.87571	-2.27;-2.27;-2.27	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.61703	1.905	0.46028	D	0.998828	D;D;D	0.89917	1.0;0.998;0.993	D;D;D	0.83275	0.996;0.991;0.942	D	0.92964	0.6391	10	0.66056	D	0.02	.	18.284	0.90108	0.0:1.0:0.0:0.0	.	1314;1254;1314	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	K	1314;1314;1254	ENSP00000347929:E1314K;ENSP00000345824:E1314K;ENSP00000268893:E1254K	ENSP00000268893:E1254K	E	-	1	0	BZRAP1	53741692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.304000	0.78882	2.570000	0.86706	0.558000	0.71614	GAG		0.577	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		42	47	0	0	0	1	0	42	47					T	56386693	C	T	56386693	3	4	12	1	0	0	0	0	1	0	0	0	1579	864	30	3	1673	3	BZRAP1	17	56386693	Missense_Mutation	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08	13749949	56386693	24808517	57	862										
DNAH17	8632	broad.mit.edu	37	chr17	76490708	76490708	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	aggtcccgtttccgaggcacGtccagagccgggaagaggtc	15	12	0	2			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:76490708G>A	ENST00000585328.1	-	40	6346	c.6222C>T	c.(6220-6222)gaC>gaT	p.D2074D	DNAH17_ENST00000389840.5_Silent_p.D2065D|RP11-559N14.5_ENST00000591373.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2065					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)			TCCGAGGCACGTCCAGAGCCG	0.587																																						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.(6193-6195)gaC>gaT		dynein, axonemal, heavy chain 17							83	93	90					17																	76490708		2086	4228	6314	SO:0001819	synonymous_variant	8632							g.chr17:76490708G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6222C>T	17.37:g.76490708G>A			Somatic				DNAH17_ENST00000585328.1_Silent_p.D2074D|RP11-559N14.5_ENST00000591373.1_RNA	p.D2065D			WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		40	6319	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.6195C>T																																																																																					0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		30	130	0	0	0	1	0	30	130					A	76490708	G	A	76490708	2	1	12	1	0	0	0	0	0	0	0	1	4603	1136	40	1		1	DNAH17	17	76490708	Silent	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08	20104015	76490708	4704502	58	863										
ZNF676	163223	broad.mit.edu	37	chr19	22363519	22363519	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	ttcacatttgtagggtttctCtccagcatgaattctcttgt	7	9	3	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr19:22363519C>G	ENST00000397121.2	-	3	1317	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	334					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)				TAGGGTTTCTCTCCAGCATGA	0.408																																						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.(1000-1002)Gag>Cag		zinc finger protein 676							67	73	71					19																	22363519		2168	4275	6443	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363519C>G	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.1000G>C	19.37:g.22363519C>G	ENSP00000380310:p.Glu334Gln		Somatic					p.E334Q	NM_001001411.2	NP_001001411.2	WXS	Illumina GAIIx	Phase_I	Q8N7Q3	ZN676_HUMAN			3	1317	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	334					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1000G>C	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	13.61	2.287662	0.40494	.	.	ENSG00000196109	ENST00000397121	T	0.25912	1.77	0.85	0.85	0.18980	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41581	0.1165	L	0.56124	1.755	0.28812	N	0.898193	D	0.76494	0.999	D	0.85130	0.997	T	0.25117	-1.0141	9	0.66056	D	0.02	.	8.4137	0.32659	0.0:1.0:0.0:0.0	.	334	Q8N7Q3	ZN676_HUMAN	Q	334	ENSP00000380310:E334Q	ENSP00000380310:E334Q	E	-	1	0	ZNF676	22155359	0.521000	0.26258	0.015000	0.15790	0.015000	0.08874	1.375000	0.34295	0.192000	0.20272	0.195000	0.17529	GAG		0.408	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		32	34	0	0	0	1	0	32	34					G	22363519	C	G	22363519	3	3	12	1	0	0	0	0	1	0	0	0	18098	922	32	2	770	2	ZNF676	19	22363519	Missense_Mutation	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08		22363519	36765464	59	864										
FFAR2	2867	broad.mit.edu	37	chr19	35941555	35941555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	gcagaggggacaaatgaggaCaggggtgtgggtcaaggaga	20	4	1	3	rs201365846		TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr19:35941555C>T	ENST00000599180.2	+	2	1019	c.939C>T	c.(937-939)gaC>gaT	p.D313D	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.D313D			O15552	FFAR2_HUMAN	free fatty acid receptor 2	313					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	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)			CAAATGAGGACAGGGGTGTGG	0.587													C|||	1	0.000199681	0	0.0014	5008	,	,		18196	0		0	False		,,,				2504	0				GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(937-939)gaC>gaT		free fatty acid receptor 2		C		0,4406		0,0,2203	57	60	59		939	3.4	0.1	19		59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FFAR2	NM_005306.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		313/331	35941555	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35941555C>T	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"GPCR / Class A : Fatty acid receptors"	4501	protein-coding gene	gene with protein product		603823	"G protein-coupled receptor 43"	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.939C>T	19.37:g.35941555C>T			Somatic				FFAR2_ENST00000246549.2_Silent_p.D313D|FFAR2_ENST00000601590.1_Intron	p.D313D			WXS	Illumina GAIIx	Phase_I	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	1019	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		313					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	c.939C>T	CCDS12461.1																																																																																				0.587	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		16	59	0	0	0	1	0	16	59					T	35941555	C	T	35941555	2	4	12	1	0	0	0	0	0	0	0	1	5836	477	17	3		3	FFAR2	19	35941555	Silent	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08	13578036	35941555	23187428	60	865										
CHD6	84181	broad.mit.edu	37	chr20	40113160	40113161	+	Frame_Shift_Del	DEL	TC	TC	-													0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	cagttccacctcaatgatcgTctcttgtttgggagcaaggt					rs146144596		TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr20:40113160_40113161delTC	ENST00000373233.3	-	15	2265_2266	c.2088_2089delGA	c.(2086-2091)gagacgfs	p.ET696fs	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	696	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)				TCAATGATCGTCTCTTGTTTGG	0.455																																						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.(2086-2091)gacgfs		chromodomain helicase DNA binding protein 6																																				SO:0001589	frameshift_variant	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40113160_40113161delTC	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.2088_2089delGA	20.37:g.40113162_40113163delTC	ENSP00000362330:p.Glu696fs		Somatic				CHD6_ENST00000309279.7_Intron	p.ET696fs	NM_032221.3	NP_115597.3	WXS	Illumina GAIIx	Phase_I	Q8TD26	CHD6_HUMAN			15	2265_2266	-		Myeloproliferative disorder(115;0.00425)	696					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Frame_Shift_Del	DEL	ENST00000373233.3	37	c.2088_2089delGA	CCDS13317.1																																																																																				0.455	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			64	71						64	71	---	---	---	---	-	40113161	TC	-	40113160	7	5	12	1	0	1	0	1	0	0	0	0	3331	1667	58	0	6150	0	CHD6	20	40113160	Frame_Shift_Del	DEL	TC	TCGA-N5-A4RV-01A-21D-A28R-08		40113160	22912360	61	866										
COL20A1	57642	broad.mit.edu	37	chr20	61951483	61951483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	ggggagatgggcagcccaccCgctgcgggcttcgtcacgct	16	14	1	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr20:61951483C>T	ENST00000358894.6	+	24	3109	c.3009C>T	c.(3007-3009)ccC>ccT	p.P1003P	COL20A1_ENST00000326996.6_Silent_p.P1003P|COL20A1_ENST00000435874.1_Silent_p.P1010P|COL20A1_ENST00000422202.1_Silent_p.P1010P	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1003	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCAGCCCACCCGCTGCGGGCT	0.716																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(3028-3030)ccC>ccT		collagen, type XX, alpha 1							6	7	7					20																	61951483		1851	3983	5834	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61951483C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3009C>T	20.37:g.61951483C>T			Somatic				COL20A1_ENST00000435874.1_Silent_p.P1010P|COL20A1_ENST00000358894.6_Silent_p.P1003P|COL20A1_ENST00000326996.6_Silent_p.P1003P	p.P1010P			WXS	Illumina GAIIx	Phase_I	Q9P218	COKA1_HUMAN			23	3098	+	all_cancers(38;1.39e-10)		1003			TSP N-terminal.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.3030C>T	CCDS46628.1																																																																																				0.716	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		10	4	0	0	0	1	0	10	4					T	61951483	C	T	61951483	2	4	12	1	0	0	0	0	0	0	0	1	3681	639	23	1		1	COL20A1	20	61951483	Silent	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08	21838323	61951483	1074037	62	867										
MX2	4600	broad.mit.edu	37	chr21	42775253	42775253	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	attttggcgaatttttcaacCttaaccaaactgttcaggta	6	8	2	0			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr21:42775253C>G	ENST00000330714.3	+	12	1817	c.1633C>G	c.(1633-1635)Ctt>Gtt	p.L545V		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	545					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				ATTTTTCAACCTTAACCAAAC	0.393																																						ENST00000330714.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(1633-1635)Ctt>Gtt		myxovirus (influenza virus) resistance 2 (mouse)							75	72	73					21																	42775253		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42775253C>G		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1633C>G	21.37:g.42775253C>G	ENSP00000333657:p.Leu545Val		Somatic					p.L545V	NM_002463.1	NP_002454.1	WXS	Illumina GAIIx	Phase_I	P20592	MX2_HUMAN			12	1817	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	545					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.1633C>G	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929715	0.52759	.	.	ENSG00000183486	ENST00000330714	D	0.84070	-1.8	3.63	3.63	0.41609	Dynamin central domain (1);	0.000000	0.64402	D	0.000001	D	0.91267	0.7247	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92372	0.5906	10	0.87932	D	0	.	11.518	0.50534	0.0:1.0:0.0:0.0	.	545	P20592	MX2_HUMAN	V	545	ENSP00000333657:L545V	ENSP00000333657:L545V	L	+	1	0	MX2	41697123	1.000000	0.71417	0.148000	0.22405	0.020000	0.10135	4.118000	0.57884	1.976000	0.57569	0.655000	0.94253	CTT		0.393	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		33	28	0	0	0	1	0	33	28					G	42775253	C	G	42775253	3	3	12	1	0	0	0	0	1	0	0	0	10007	681	24	5	1675	5	MX2	21	42775253	Missense_Mutation	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08		42775253	5354642	63	868										
BCL2L13	23786	broad.mit.edu	37	chr22	18185097	18185097	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	gagcgcactgctgcagtttgGcgtgacatacctggaggact	14	10	0	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr22:18185097G>C	ENST00000317582.5	+	6	892	c.545G>C	c.(544-546)gGc>gCc	p.G182A	BCL2L13_ENST00000399782.1_Missense_Mutation_p.G182A|BCL2L13_ENST00000337612.5_Missense_Mutation_p.G20A|BCL2L13_ENST00000493680.1_Missense_Mutation_p.G182A|BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000538149.1_Missense_Mutation_p.G58A|BCL2L13_ENST00000543133.1_Missense_Mutation_p.G20A	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	182					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)		CTGCAGTTTGGCGTGACATAC	0.403																																						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.(544-546)gGc>gCc		BCL2-like 13 (apoptosis facilitator)							114	107	110					22																	18185097		2203	4300	6503	SO:0001583	missense	23786				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	g.chr22:18185097G>C	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.545G>C	22.37:g.18185097G>C	ENSP00000318883:p.Gly182Ala		Somatic				BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000543133.1_Missense_Mutation_p.G20A|BCL2L13_ENST00000493680.1_Missense_Mutation_p.G182A|BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000538149.1_Missense_Mutation_p.G58A|BCL2L13_ENST00000399782.1_Missense_Mutation_p.G182A|BCL2L13_ENST00000337612.5_Missense_Mutation_p.G20A	p.G182A	NM_015367.2	NP_056182.2	WXS	Illumina GAIIx	Phase_I	Q9BXK5	B2L13_HUMAN		Lung(27;0.199)	6	892	+		all_epithelial(15;0.123)	182					B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	ENST00000317582.5	37	c.545G>C	CCDS13746.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691637	0.88735	.	.	ENSG00000099968	ENST00000399782;ENST00000317582;ENST00000543133;ENST00000538149;ENST00000337612;ENST00000493680	T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63	5.95	5.95	0.96441	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (2);	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	M	0.69823	2.125	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.00102	-1.2062	10	0.31617	T	0.26	-13.5484	18.1662	0.89727	0.0:0.0:1.0:0.0	.	58;182;182	B7Z238;Q9BXK5;Q9BXK5-2	.;B2L13_HUMAN;.	A	182;182;20;58;20;182	ENSP00000382682:G182A;ENSP00000318883:G182A;ENSP00000437667:G20A;ENSP00000441344:G58A;ENSP00000338932:G20A;ENSP00000434764:G182A	ENSP00000318883:G182A	G	+	2	0	BCL2L13	16565097	1.000000	0.71417	0.989000	0.46669	0.835000	0.47333	5.477000	0.66799	2.824000	0.97209	0.655000	0.94253	GGC		0.403	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367		37	47	0	0	0	1	0	37	47					C	18185097	G	C	18185097	3	2	12	1	0	0	0	0	1	0	0	0	1371	1203	42	5	563	5	BCL2L13	22	18185097	Missense_Mutation	SNP	G	TCGA-N5-A4RV-01A-21D-A28R-08		18185097	33119469	64	869										
ALG12	79087	broad.mit.edu	37	chr22	50297568	50297568	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	ggggcagttgggtcaggttcAgactcacacctgtggtcccc	14	12	3	1			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr22:50297568A>C	ENST00000330817.6	-	10	1658	c.1385T>G	c.(1384-1386)cTg>cGg	p.L462R	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	462					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)		GGTCAGGTTCAGACTCACACC	0.657																																						ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(1384-1386)cTg>cGg		ALG12, alpha-1,6-mannosyltransferase							71	75	74					22																	50297568		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.chr22:50297568A>C	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.1385T>G	22.37:g.50297568A>C	ENSP00000333813:p.Leu462Arg		Somatic					p.L462R	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	1658	-		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)	462					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.1385T>G	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.477358	0.84640	.	.	ENSG00000182858	ENST00000330817	D	0.83163	-1.69	5.31	4.26	0.50523	.	0.151129	0.45361	D	0.000376	D	0.84014	0.5379	M	0.68593	2.085	0.41890	D	0.990367	P	0.48834	0.916	P	0.48795	0.59	D	0.86194	0.1614	10	0.87932	D	0	-11.4463	10.996	0.47575	0.9243:0.0:0.0757:0.0	.	462	Q9BV10	ALG12_HUMAN	R	462	ENSP00000333813:L462R	ENSP00000333813:L462R	L	-	2	0	ALG12	48683572	1.000000	0.71417	0.946000	0.38457	0.994000	0.84299	6.072000	0.71238	2.013000	0.59113	0.533000	0.62120	CTG		0.657	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		11	48	0	0	0	1	0	11	48					C	50297568	A	C	50297568	3	2	12	1	0	0	0	0	1	0	0	0	514	188	7	4	85	4	ALG12	22	50297568	Missense_Mutation	SNP	A	TCGA-N5-A4RV-01A-21D-A28R-08	32112471	50297568	1006998	65	870										
USP51	158880	broad.mit.edu	37	chrX	55515333	55515333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	tccggagatccagcggacccCagagccggagggcaaagaag	15	12	0	3			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chrX:55515333C>T	ENST00000500968.3	-	2	122	c.40G>A	c.(40-42)Ggg>Agg	p.G14R	USP51_ENST00000586165.1_5'Flank	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	14					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(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CAGCGGACCCCAGAGCCGGAG	0.627																																						ENST00000500968.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(40-42)Ggg>Agg		ubiquitin specific peptidase 51							11	9	10					X																	55515333		2146	4199	6345	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55515333C>T	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.40G>A	X.37:g.55515333C>T	ENSP00000423333:p.Gly14Arg		Somatic					p.G14R	NM_201286.3	NP_958443.1	WXS	Illumina GAIIx	Phase_I	Q70EK9	UBP51_HUMAN			2	122	-			14					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.40G>A	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	8.507	0.865628	0.17250	.	.	ENSG00000247746	ENST00000500968	T	0.09445	2.98	2.66	-0.964	0.10326	.	.	.	.	.	T	0.05593	0.0147	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.17433	0.018	T	0.38478	-0.9659	9	0.59425	D	0.04	.	8.448	0.32854	0.3904:0.6096:0.0:0.0	.	14	Q70EK9	UBP51_HUMAN	R	14	ENSP00000423333:G14R	ENSP00000423333:G14R	G	-	1	0	USP51	55532058	0.001000	0.12720	0.000000	0.03702	0.414000	0.31173	-0.680000	0.05197	-0.319000	0.08652	0.431000	0.28591	GGG		0.627	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		8	16	0	0	0	1	0	8	16					T	55515333	C	T	55515333	3	4	12	1	0	0	0	0	1	0	0	0	17098	594	21	3	2099	3	USP51	23	55515333	Missense_Mutation	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08		55515333	99755227	66	871										
GRIA3	2892	broad.mit.edu	37	chrX	122387246	122387246	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	cctccttctgtggggccctgCacacatcctttgttacgcct	8	16	1	0			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chrX:122387246C>A	ENST00000371251.1	+	3	413	c.361C>A	c.(361-363)Cac>Aac	p.H121N	GRIA3_ENST00000264357.5_Missense_Mutation_p.H121N|GRIA3_ENST00000542149.1_Missense_Mutation_p.H121N|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000541091.1_Missense_Mutation_p.H105N|GRIA3_ENST00000371256.5_Missense_Mutation_p.H121N			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	121					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)	p.H121N(2)		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)	TGGGGCCCTGCACACATCCTT	0.537																																						ENST00000264357.5																			2	Substitution - Missense(2)	p.H121N(2)	pancreas(2)	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.(361-363)Cac>Aac		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						153	117	129					X																	122387246		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:122387246C>A	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.361C>A	X.37:g.122387246C>A	ENSP00000360297:p.His121Asn		Somatic				GRIA3_ENST00000371256.5_Missense_Mutation_p.H121N|GRIA3_ENST00000542149.1_Missense_Mutation_p.H121N|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000541091.1_Missense_Mutation_p.H105N|GRIA3_ENST00000371251.1_Missense_Mutation_p.H121N	p.H121N	NM_000828.4	NP_000819.3	WXS	Illumina GAIIx	Phase_I	P42263	GRIA3_HUMAN			3	653	+			121					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.361C>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509028	0.64410	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	5.52	5.52	0.82312	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	M	0.69823	2.125	0.80722	D	1	P;D;D	0.54601	0.902;0.967;0.96	P;D;D	0.73708	0.569;0.981;0.968	T	0.29671	-1.0004	10	0.66056	D	0.02	.	17.5792	0.87960	0.0:1.0:0.0:0.0	.	105;121;121	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	N	121;121;121;121;105	ENSP00000264357:H121N;ENSP00000446146:H121N;ENSP00000360302:H121N;ENSP00000360297:H121N;ENSP00000446440:H105N	ENSP00000264357:H121N	H	+	1	0	GRIA3	122214927	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.454000	0.82982	0.513000	0.50165	CAC		0.537	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		27	89	1	0	8.58068e-18	1	9.74596e-18	27	89					A	122387246	C	A	122387246	3	1	12	1	0	0	0	0	1	0	0	0	6778	710	25	5	371	5	GRIA3	23	122387246	Missense_Mutation	SNP	C	TCGA-N5-A4RV-01A-21D-A28R-08	66871913	122387246	32883314	67	872										
USP26	83844	broad.mit.edu	37	chrX	132161820	132161820	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0441176470588235	3	1	0.731499556344277	2.13354037267081	0	0.166666666666667	0.633333333333335	0	cttccttttgctatctcaaaAgatttgctacttgatttctc	4	10	2	2			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chrX:132161820A>T	ENST00000511190.1	-	6	898	c.429T>A	c.(427-429)tcT>tcA	p.S143S	USP26_ENST00000406273.1_Silent_p.S143S|USP26_ENST00000370832.1_Silent_p.S143S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	143					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTATCTCAAAAGATTTGCTAC	0.408																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(427-429)tcT>tcA		ubiquitin specific peptidase 26							78	56	63					X																	132161820		2203	4299	6502	SO:0001819	synonymous_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161820A>T	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.429T>A	X.37:g.132161820A>T			Somatic				USP26_ENST00000406273.1_Silent_p.S143S|USP26_ENST00000370832.1_Silent_p.S143S	p.S143S	NM_031907.1	NP_114113.1	WXS	Illumina GAIIx	Phase_I	Q9BXU7	UBP26_HUMAN			6	898	-	Acute lymphoblastic leukemia(192;0.000127)		143					B9WRT6|Q5H9H4	Silent	SNP	ENST00000511190.1	37	c.429T>A	CCDS14635.1																																																																																				0.408	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		12	28	0	0	0	1	0	12	28					T	132161820	A	T	132161820	2	4	12	1	0	0	0	0	0	0	0	1	17072	59	3	4		4	USP26	23	132161820	Silent	SNP	A	TCGA-N5-A4RV-01A-21D-A28R-08	9774574	132161820	23108740	68	873										
TNFRSF14	8764	broad.mit.edu	37	chr1	2492102	2492102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	cctgtgtcagaactgcccccCggggaccttctctcccaatg	9	17	2	1	rs201844409		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:2492102C>T	ENST00000355716.4	+	5	799	c.500C>T	c.(499-501)cCg>cTg	p.P167L	TNFRSF14_ENST00000409119.1_Missense_Mutation_p.P167L	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	167					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell migration (GO:2000406)|T cell costimulation (GO:0031295)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		AACTGCCCCCCGGGGACCTTC	0.672			"Mis, N, F"		follicular lymphoma																																	ENST00000355716.4				Rec	yes		1	1p36.32	8764	"Mis, N, F"	"tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"			L			follicular lymphoma		0				kidney(1)	1						c.(499-501)cCg>cTg		tumor necrosis factor receptor superfamily, member 14							51	50	50					1																	2492102		2202	4300	6502	SO:0001583	missense	8764				immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity	g.chr1:2492102C>T	U70321	CCDS44046.1	1p36.32	2012-02-27	2011-08-11		ENSG00000157873	ENSG00000157873		"Tumor necrosis factor receptor superfamily", "CD molecules"	11912	protein-coding gene	gene with protein product	"herpesvirus entry mediator"	602746	"tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"			8898196, 9162061	Standard	XM_006711018		Approved	HVEM, ATAR, TR2, LIGHTR, HVEA, CD270	uc001ajt.1	Q92956	OTTHUMG00000000792	ENST00000355716.4:c.500C>T	1.37:g.2492102C>T	ENSP00000347948:p.Pro167Leu		Somatic				TNFRSF14_ENST00000409119.1_Missense_Mutation_p.P167L	p.P167L	NM_003820.2	NP_003811.2	WXS	Illumina GAIIx	Phase_I	Q92956	TNR14_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)	5	799	+	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	167					B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65	Missense_Mutation	SNP	ENST00000355716.4	37	c.500C>T	CCDS44046.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626338	0.28978	.	.	ENSG00000157873	ENST00000426449;ENST00000434817;ENST00000435221;ENST00000451778;ENST00000409119;ENST00000355716	T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19	3.5	1.4	0.22301	.	.	.	.	.	T	0.44074	0.1276	L	0.41824	1.3	0.09310	N	1	D	0.61697	0.99	P	0.44422	0.449	T	0.28459	-1.0043	9	0.33940	T	0.23	-7.6636	3.4943	0.07649	0.2508:0.612:0.0:0.1373	.	167	Q92956	TNR14_HUMAN	L	167	ENSP00000411854:P167L;ENSP00000415254:P167L;ENSP00000399292:P167L;ENSP00000399533:P167L;ENSP00000386859:P167L;ENSP00000347948:P167L	ENSP00000347948:P167L	P	+	2	0	TNFRSF14	2482316	0.000000	0.05858	0.001000	0.08648	0.466000	0.32739	0.062000	0.14389	0.829000	0.34733	0.407000	0.27541	CCG		0.672	TNFRSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002088.1			20	14	0	0	0	1	0	20	14					T	2492102	C	T	2492102	3	4	13	1	0	0	0	0	1	0	0	0	16304	652	23	1	518	1	TNFRSF14	1	2492102	Missense_Mutation	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08		2492102	246758519	1	874										
MMEL1	79258	broad.mit.edu	37	chr1	2537800	2537800	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	ctgccgctccagctcccactCgagtcctggggagacagtgc	12	16	0	1	rs559978146		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:2537800C>G	ENST00000378412.3	-	8	798	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	MMEL1_ENST00000288709.6_Missense_Mutation_p.E204Q|MMEL1_ENST00000502556.1_Intron			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	213						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		AGCTCCCACTCGAGTCCTGGG	0.657																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(610-612)Gag>Cag		membrane metallo-endopeptidase-like 1							29	28	28					1																	2537800		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2537800C>G	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.637G>C	1.37:g.2537800C>G	ENSP00000367668:p.Glu213Gln		Somatic				MMEL1_ENST00000378412.3_Missense_Mutation_p.E213Q|MMEL1_ENST00000502556.1_Intron	p.E204Q	NM_033467.3	NP_258428.2	WXS	Illumina GAIIx	Phase_I	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	8	850	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	213					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.610G>C	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	N	2.415	-0.334355	0.05278	.	.	ENSG00000142606	ENST00000288709;ENST00000378412	T;T	0.74002	-0.8;-0.8	4.91	-7.32	0.01436	Peptidase M13 (1);	1.240900	0.05113	N	0.489346	T	0.40719	0.1128	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22103	-1.0226	10	0.44086	T	0.13	-2.9432	3.0732	0.06237	0.0909:0.201:0.3465:0.3617	.	213	Q495T6	MMEL1_HUMAN	Q	204;213	ENSP00000288709:E204Q;ENSP00000367668:E213Q	ENSP00000288709:E204Q	E	-	1	0	MMEL1	2527660	0.000000	0.05858	0.092000	0.20876	0.084000	0.17831	-1.416000	0.02467	-0.725000	0.04901	-1.062000	0.02293	GAG		0.657	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		10	22	0	0	0	1	0	10	22					G	2537800	C	G	2537800	3	3	13	1	0	0	0	0	1	0	0	0	9655	893	31	2	1770	2	MMEL1	1	2537800	Missense_Mutation	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08	45698	2537800	246712821	2	875										
CAPZB	832	broad.mit.edu	37	chr1	19712043	19712043	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	tagtcacacaaaaggtaatcCtttcccaccaccttgtctct	4	14	2	0			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:19712043C>T	ENST00000375142.1	-	3	217	c.171G>A	c.(169-171)aaG>aaA	p.K57K	CAPZB_ENST00000264202.6_Silent_p.K57K|CAPZB_ENST00000433834.1_Silent_p.K86K|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000375144.1_Silent_p.K45K|CAPZB_ENST00000401084.2_Silent_p.K57K|CAPZB_ENST00000264203.3_Silent_p.K83K	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	57					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)		AAAGGTAATCCTTTCCCACCA	0.547																																						ENST00000264203.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7						c.(247-249)aaG>aaA		capping protein (actin filament) muscle Z-line, beta							96	97	97					1																	19712043		1991	4169	6160	SO:0001819	synonymous_variant	832				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding	g.chr1:19712043C>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.171G>A	1.37:g.19712043C>T			Somatic				CAPZB_ENST00000375144.1_Silent_p.K45K|CAPZB_ENST00000375142.1_Silent_p.K57K|CAPZB_ENST00000401084.2_Silent_p.K57K|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000264202.6_Silent_p.K57K|CAPZB_ENST00000433834.1_Silent_p.K86K	p.K83K			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	742	-		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)	57					Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Silent	SNP	ENST00000375142.1	37	c.249G>A	CCDS55579.1																																																																																				0.547	CAPZB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007260.1			20	27	0	0	0	1	0	20	27					T	19712043	C	T	19712043	2	4	13	1	0	0	0	0	0	0	0	1	2645	680	24	3		3	CAPZB	1	19712043	Silent	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08	17174243	19712043	229538578	3	876										
CSMD2	114784	broad.mit.edu	37	chr1	33999485	33999485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	gcaggtagcctttttgacaaCggaagaggactgtgcttcca	12	9	0	2			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:33999485C>T	ENST00000373381.4	-	63	10078	c.9902G>A	c.(9901-9903)cGt>cAt	p.R3301H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3157						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)				TTTTTGACAACGGAAGAGGAC	0.562																																						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.(9901-9903)cGt>cAt		CUB and Sushi multiple domains 2							139	117	125					1																	33999485		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33999485C>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.9902G>A	1.37:g.33999485C>T	ENSP00000362479:p.Arg3301His		Somatic					p.R3301H	NM_052896.3	NP_443128.2	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			63	10078	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3157					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9902G>A		.	.	.	.	.	.	.	.	.	.	C	15.17	2.753862	0.49362	.	.	ENSG00000121904	ENST00000373381	T	0.64991	-0.13	5.33	3.45	0.39498	Complement control module (2);Sushi/SCR/CCP (3);	0.324034	0.31010	N	0.008421	T	0.57140	0.2033	N	0.12961	0.28	0.80722	D	1	B;D	0.59357	0.014;0.985	B;D	0.65323	0.015;0.934	T	0.51411	-0.8709	10	0.20046	T	0.44	.	9.63	0.39774	0.0:0.7703:0.0:0.2297	.	3157;3301	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	3301	ENSP00000362479:R3301H	ENSP00000241312:R3157H	R	-	2	0	CSMD2	33772072	0.958000	0.32768	0.903000	0.35520	0.527000	0.34593	1.098000	0.31000	1.248000	0.43934	0.591000	0.81541	CGT		0.562	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		17	11	0	0	0	1	0	17	11					T	33999485	C	T	33999485	3	4	13	1	0	0	0	0	1	0	0	0	3947	536	19	1	1025	1	CSMD2	1	33999485	Missense_Mutation	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08	14287442	33999485	215251136	4	877										
PTPRF	5792	broad.mit.edu	37	chr1	44075093	44075093	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	tcctctaaggatgagcagtcGatcggactgaaggactcctt	11	10	1	2			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:44075093G>C	ENST00000359947.4	+	22	4237	c.3897G>C	c.(3895-3897)tcG>tcC	p.S1299S	PTPRF_ENST00000422171.2_Silent_p.S647S|PTPRF_ENST00000372413.3_Silent_p.S1290S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.S1299S|PTPRF_ENST00000438120.1_Silent_p.S1290S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1299					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGAGCAGTCGATCGGACTGA	0.577																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3895-3897)tcG>tcC		protein tyrosine phosphatase, receptor type, F							100	82	88					1																	44075093		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44075093G>C	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3897G>C	1.37:g.44075093G>C			Somatic				PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.S1290S|PTPRF_ENST00000422171.2_Silent_p.S647S|PTPRF_ENST00000372414.3_Silent_p.S1299S|PTPRF_ENST00000438120.1_Silent_p.S1290S	p.S1299S	NM_002840.3	NP_002831.2	WXS	Illumina GAIIx	Phase_I	P10586	PTPRF_HUMAN			22	4237	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1299					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.3897G>C	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.935|2.935	-0.220199|-0.220199	0.06061|0.06061	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	4.81|4.81	-9.61|-9.61	0.00550|0.00550	.|.	.|.	.|.	.|.	.|.	T|T	0.42944|0.42944	0.1225|0.1225	.|.	.|.	.|.	0.53005|0.53005	D|D	0.999968|0.999968	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49995|0.49995	-0.8879|-0.8879	4|4	.|.	.|.	.|.	.|.	5.6692|5.6692	0.17713|0.17713	0.2073:0.4275:0.2901:0.0752|0.2073:0.4275:0.2901:0.0752	.|.	.|.	.|.	.|.	H|P	672;713|945	.|.	.|.	D|R	+|+	1|2	0|0	PTPRF|PTPRF	43847680|43847680	0.000000|0.000000	0.05858|0.05858	0.170000|0.170000	0.22879|0.22879	0.473000|0.473000	0.32948|0.32948	-1.895000|-1.895000	0.01606|0.01606	-1.535000|-1.535000	0.01740|0.01740	-0.379000|-0.379000	0.06801|0.06801	GAT|CGA		0.577	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			5	32	0	0	0	1	0	5	32					C	44075093	G	C	44075093	2	2	13	1	0	0	0	0	0	0	0	1	12816	1045	37	2		2	PTPRF	1	44075093	Silent	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08	10075608	44075093	205175528	5	878										
TRIM33	51592	broad.mit.edu	37	chr1	115006917	115006917	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	ctgatttttcatcagaactgCtaggagcttcagatgtgtct	9	8	4	3			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:115006917C>G	ENST00000358465.2	-	2	703	c.620G>C	c.(619-621)aGc>aCc	p.S207T	TRIM33_ENST00000369543.2_Missense_Mutation_p.S207T|TRIM33_ENST00000450349.2_5'Flank	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	207					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)		ATCAGAACTGCTAGGAGCTTC	0.358			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.(619-621)aGc>aCc		tripartite motif containing 33							71	69	70					1																	115006917		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:115006917C>G	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.620G>C	1.37:g.115006917C>G	ENSP00000351250:p.Ser207Thr		Somatic				TRIM33_ENST00000369543.2_Missense_Mutation_p.S207T	p.S207T	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)	2	703	-	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)	207					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.620G>C	CCDS872.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123371	0.77436	.	.	ENSG00000197323	ENST00000358465;ENST00000369543	T;T	0.75704	-0.96;-0.86	6.03	6.03	0.97812	.	0.116310	0.85682	D	0.000000	T	0.75693	0.3884	L	0.46819	1.47	0.80722	D	1	D;B	0.61697	0.99;0.367	P;B	0.55011	0.766;0.205	T	0.74067	-0.3784	10	0.46703	T	0.11	-12.4128	20.1519	0.98089	0.0:1.0:0.0:0.0	.	207;207	Q9UPN9-2;Q9UPN9	.;TRI33_HUMAN	T	207	ENSP00000351250:S207T;ENSP00000358556:S207T	ENSP00000351250:S207T	S	-	2	0	TRIM33	114808440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.929000	0.48916	2.861000	0.98227	0.655000	0.94253	AGC		0.358	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		6	11	0	0	0	1	0	6	11					G	115006917	C	G	115006917	3	3	13	1	0	0	0	0	1	0	0	0	16522	797	28	5	2839	5	TRIM33	1	115006917	Missense_Mutation	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08	70931824	115006917	134243704	6	879										
FLG	2312	broad.mit.edu	37	chr1	152278956	152278956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	gagctatctaccgaatgctcGtggtggtacccctgccttcc	10	14	1	0	rs137870179	byFrequency	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:152278956G>A	ENST00000368799.1	-	3	8441	c.8406C>T	c.(8404-8406)caC>caT	p.H2802H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2802	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.H2802Q(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)			CCGAATGCTCGTGGTGGTACC	0.597									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.H2802Q(1)	lung(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.(8404-8406)caC>caT		filaggrin		G		4,4396	8.1+/-20.4	0,4,2196	171	241	217		8406	-6.7	0	1	dbSNP_134	217	0,8594		0,0,4297	no	coding-synonymous	FLG	NM_002016.1		0,4,6493	AA,AG,GG		0.0,0.0909,0.0308		2802/4062	152278956	4,12990	2200	4297	6497	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.chr1:152278956G>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.8406C>T	1.37:g.152278956G>A			Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H2802H	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8441	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2802			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.8406C>T	CCDS30860.1																																																																																				0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		17	763	0	0	0	1	0	17	763					A	152278956	G	A	152278956	2	1	13	1	0	0	0	0	0	0	0	1	5930	1136	40	1		1	FLG	1	152278956	Silent	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08	37272039	152278956	96971665	7	880										
CRTC2	200186	broad.mit.edu	37	chr1	153925843	153925843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	gaagggcagagtcagagcttGtcctatggggggagcaggaa	18	6	1	2			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:153925843G>A	ENST00000368633.1	-	6	633	c.506C>T	c.(505-507)aCa>aTa	p.T169I	CRTC2_ENST00000368630.3_Intron|CRTC2_ENST00000476883.1_5'UTR	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	169					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTCAGAGCTTGTCCTATGGGG	0.592																																						ENST00000368633.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(505-507)aCa>aTa		CREB regulated transcription coactivator 2							59	59	59					1																	153925843		2203	4300	6503	SO:0001583	missense	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153925843G>A	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.506C>T	1.37:g.153925843G>A	ENSP00000357622:p.Thr169Ile		Somatic				CRTC2_ENST00000476883.1_5'UTR|CRTC2_ENST00000368630.3_Intron	p.T169I	NM_181715.2	NP_859066.1	WXS	Illumina GAIIx	Phase_I	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		6	633	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		169					Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	c.506C>T	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101322	0.76983	.	.	ENSG00000160741	ENST00000368633	T	0.61859	0.07	4.56	4.56	0.56223	Transducer of regulated CREB activity, middle domain (1);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.79011	2.435	0.50039	D	0.999845	D	0.89917	1.0	D	0.87578	0.998	T	0.75581	-0.3268	10	0.87932	D	0	-6.9783	15.1957	0.73084	0.0:0.0:1.0:0.0	.	169	Q53ET0	CRTC2_HUMAN	I	169	ENSP00000357622:T169I	ENSP00000357622:T169I	T	-	2	0	CRTC2	152192467	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.669000	0.68081	2.533000	0.85409	0.455000	0.32223	ACA		0.592	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		5	57	0	0	0	1	0	5	57					A	153925843	G	A	153925843	3	1	13	1	0	0	0	0	1	0	0	0	3902	1377	48	3	1611	3	CRTC2	1	153925843	Missense_Mutation	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08	1646887	153925843	95324778	8	881										
SLAMF6	114836	broad.mit.edu	37	chr1	160466086	160466088	+	In_Frame_Del	DEL	CTT	CTT	-													0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	agccaagtgatgaagttgacCttctctcctgcaggaaactc							TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:160466086_160466088delCTT	ENST00000368057.3	-	2	205_207	c.145_147delAAG	c.(145-147)aagdel	p.K49del	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368059.3_In_Frame_Del_p.K49del			Q96DU3	SLAF6_HUMAN	SLAM family member 6	49	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TGAAGTTGACCTTCTCTCCTGCA	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.(145-147)del		SLAM family member 6																																				SO:0001651	inframe_deletion	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160466086_160466088delCTT	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.145_147delAAG	1.37:g.160466086_160466088delCTT	ENSP00000357036:p.Lys49del		Somatic				SLAMF6_ENST00000368057.3_In_Frame_Del_p.K49del|SLAMF6_ENST00000368055.1_Intron	p.K49del	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	214_216	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		49					A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	In_Frame_Del	DEL	ENST00000368057.3	37	c.145_147delAAG	CCDS53394.1																																																																																				0.458	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		96	194						96	194	---	---	---	---	-	160466088	CTT	-	160466086	7	5	13	1	0	1	0	1	0	0	0	0	14383	680	24	0	879	0	SLAMF6	1	160466086	In_Frame_Del	DEL	CTT	TCGA-N5-A59E-01A-11D-A28R-08	6540243	160466086	88784535	9	882										
KCNT2	343450	broad.mit.edu	37	chr1	196397292	196397292	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	tccataagtaaatcaatcttCagtgagctgacacacaggac	7	10	3	2			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:196397292C>T	ENST00000294725.9	-	10	1842	c.927G>A	c.(925-927)ctG>ctA	p.L309L	KCNT2_ENST00000609185.1_Silent_p.L309L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.L309L|KCNT2_ENST00000367433.5_Silent_p.L309L|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	309					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						AATCAATCTTCAGTGAGCTGA	0.393																																						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.(925-927)ctG>ctA		potassium channel, subfamily T, member 2							124	115	118					1																	196397292		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.chr1:196397292C>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.927G>A	1.37:g.196397292C>T			Somatic				KCNT2_ENST00000294725.8_Silent_p.L309L|KCNT2_ENST00000367431.4_Silent_p.L309L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron	p.L309L			WXS	Illumina GAIIx	Phase_I	Q6UVM3	KCNT2_HUMAN			10	1028	-			309					Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.927G>A	CCDS1384.1																																																																																				0.393	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		4	35	0	0	0	1	0	4	35					T	196397292	C	T	196397292	2	4	13	1	0	0	0	0	0	0	0	1	8101	813	29	3		3	KCNT2	1	196397292	Silent	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08	35931206	196397292	52853329	10	883										
CTSE	1510	broad.mit.edu	37	chr1	206318413	206318414	+	Frame_Shift_Ins	INS	-	-	GA													0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	tggacatgatccagttcaccINSgagtcctgctcaatggacca							TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:206318413_206318414insGA	ENST00000358184.2	+	2	289_290	c.171_172insGA	c.(172-174)gagfs	p.E58fs	CTSE_ENST00000432969.2_Intron|CTSE_ENST00000361052.3_Frame_Shift_Ins_p.E58fs|CTSE_ENST00000360218.2_Frame_Shift_Ins_p.E58fs	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	58					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TCCAGTTCACCGAGTCCTGCTC	0.584																																						ENST00000361052.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16						c.(169-174)acagtcfs		cathepsin E																																				SO:0001589	frameshift_variant	1510				antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	g.chr1:206318413_206318414insGA	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"Cathepsins"	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.172_173dupGA	1.37:g.206318414_206318415dupGA	ENSP00000350911:p.Glu58fs		Somatic				CTSE_ENST00000360218.2_Frame_Shift_Ins_p.V58fs|CTSE_ENST00000432969.2_Intron|CTSE_ENST00000358184.2_Frame_Shift_Ins_p.V58fs	p.V58fs			WXS	Illumina GAIIx	Phase_I	P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		2	289_290	+			58					Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Frame_Shift_Ins	INS	ENST00000358184.2	37	c.171_172insGA	CCDS1462.1																																																																																				0.584	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		39	75						39	75	---	---	---	---	GA	206318414	-	GA	206318413	7	5	13	1	0	1	1	0	0	0	0	0	4035	639	23	0	177	0	CTSE	1	206318413	Frame_Shift_Ins	INS	-	TCGA-N5-A59E-01A-11D-A28R-08	9921121	206318413	42932208	11	884										
SUSD4	55061	broad.mit.edu	37	chr1	223396671	223396671	+	Frame_Shift_Del	DEL	G	G	-													0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	tgtcagggttgtccgaagcaGggtgggtgctctcttggcac							TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:223396671delG	ENST00000343846.3	-	7	1997	c.1364delC	c.(1363-1365)cctfs	p.P455fs	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Frame_Shift_Del_p.P455fs|SUSD4_ENST00000484758.2_Frame_Shift_Del_p.P386fs|SUSD4_ENST00000454695.2_Frame_Shift_Del_p.P295fs|SUSD4_ENST00000494793.2_Frame_Shift_Del_p.P455fs			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	455						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)		GTCCGAAGCAGGGTGGGTGCT	0.587																																						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.(1363-1365)ctfs		sushi domain containing 4							63	71	68					1																	223396671		2106	4235	6341	SO:0001589	frameshift_variant	55061					integral to membrane		g.chr1:223396671delG	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.1364delC	1.37:g.223396671delG	ENSP00000344219:p.Pro455fs		Somatic				SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_Frame_Shift_Del_p.P295fs|SUSD4_ENST00000366878.4_Frame_Shift_Del_p.P455fs	p.P455fs			WXS	Illumina GAIIx	Phase_I	Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	7	1997	-			455					D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Frame_Shift_Del	DEL	ENST00000343846.3	37	c.1364delC	CCDS41471.1																																																																																				0.587	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		13	120						13	120	---	---	---	---	-	223396671	G	-	223396671	7	5	13	1	0	1	0	1	0	0	0	0	15425	1000	35	0	116	0	SUSD4	1	223396671	Frame_Shift_Del	DEL	G	TCGA-N5-A59E-01A-11D-A28R-08	17078258	223396671	25853950	12	885										
SLC8A1	6546	broad.mit.edu	37	chr2	40656143	40656143	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	cctctgcggataatggtaagGgccacagtaccacagttctc	10	12	2	0			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:40656143G>A	ENST00000403092.1	-	2	1311	c.1278C>T	c.(1276-1278)gcC>gcT	p.A426A	SLC8A1_ENST00000405269.1_Silent_p.A426A|SLC8A1_ENST00000408028.2_Silent_p.A426A|SLC8A1_ENST00000402441.1_Silent_p.A426A|SLC8A1_ENST00000332839.4_Silent_p.A426A|SLC8A1_ENST00000406391.2_Silent_p.A426A|SLC8A1_ENST00000542756.1_Silent_p.A426A|SLC8A1_ENST00000405901.3_Silent_p.A426A|SLC8A1_ENST00000406785.2_Silent_p.A426A|SLC8A1_ENST00000542024.1_Silent_p.A426A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	426	Calx-beta 1.				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)	p.A426A(1)		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)	TAATGGTAAGGGCCACAGTAC	0.438																																						ENST00000406785.1																			1	Substitution - coding silent(1)	p.A426A(1)	lung(1)	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.(1276-1278)gcC>gcT		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						105	88	94					2																	40656143		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656143G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1278C>T	2.37:g.40656143G>A			Somatic				SLC8A1_ENST00000542756.1_Silent_p.A426A|SLC8A1_ENST00000332839.4_Silent_p.A426A|SLC8A1_ENST00000542024.1_Silent_p.A426A|SLC8A1_ENST00000408028.2_Silent_p.A426A|SLC8A1_ENST00000406391.2_Silent_p.A426A|SLC8A1_ENST00000405269.1_Silent_p.A426A|SLC8A1_ENST00000403092.1_Silent_p.A426A|SLC8A1_ENST00000405901.3_Silent_p.A426A|SLC8A1_ENST00000402441.1_Silent_p.A426A	p.A426A			WXS	Illumina GAIIx	Phase_I	P32418	NAC1_HUMAN			2	1467	-			426			Calx-beta 1.		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.1278C>T	CCDS1806.1																																																																																				0.438	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		11	111	0	0	0	1	0	11	111					A	40656143	G	A	40656143	2	1	13	1	0	0	0	0	0	0	0	1	14721	1219	43	3		3	SLC8A1	2	40656143	Silent	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08		40656143	202543230	13	886										
RANBP2	5903	broad.mit.edu	37	chr2	109398713	109398713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	atataaagattctttggcatAcaatgaagaattattaccgg	7	5	1	3			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:109398713A>G	ENST00000283195.6	+	27	9016	c.8890A>G	c.(8890-8892)Aca>Gca	p.T2964A		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2964	RanBD1 4. {ECO:0000255|PROSITE- ProRule:PRU00164}.				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						TCTTTGGCATACAATGAAGAA	0.373																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(8890-8892)Aca>Gca		RAN binding protein 2							101	105	104					2																	109398713		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.chr2:109398713A>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.8890A>G	2.37:g.109398713A>G	ENSP00000283195:p.Thr2964Ala		Somatic					p.T2964A	NM_006267.4	NP_006258.3	WXS	Illumina GAIIx	Phase_I	P49792	RBP2_HUMAN			27	9016	+			2964			RanBD1 4.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.8890A>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.013047	0.35511	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.41758	0.99	5.44	4.26	0.50523	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.27349	0.0671	N	0.16266	0.395	0.24919	N	0.991991	B	0.28128	0.201	B	0.24701	0.055	T	0.13255	-1.0516	9	0.26408	T	0.33	-3.6282	12.1563	0.54079	0.8719:0.0:0.0:0.1281	.	2964	P49792	RBP2_HUMAN	A	1988;2964	ENSP00000283195:T2964A	ENSP00000283195:T2964A	T	+	1	0	RANBP2	108765145	1.000000	0.71417	0.485000	0.27403	0.968000	0.65278	5.381000	0.66208	0.964000	0.38108	0.533000	0.62120	ACA		0.373	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		20	26	0	0	0	1	0	20	26					G	109398713	A	G	109398713	3	3	13	1	0	0	0	0	1	0	0	0	13043	391	14	4	8996	4	RANBP2	2	109398713	Missense_Mutation	SNP	A	TCGA-N5-A59E-01A-11D-A28R-08	68742570	109398713	133800660	14	887										
TANC1	85461	broad.mit.edu	37	chr2	160031574	160031598	+	Frame_Shift_Del	DEL	CAGAGACCTTCTGATAAAGGAGCCC	CAGAGACCTTCTGATAAAGGAGCCC	-													0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	tcccatcagctggccgcctaCagagaccttctgataaagga							TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:160031574_160031598delCAGAGACCTTCTGATAAAGGAGCCC	ENST00000263635.6	+	12	1851_1875	c.1614_1638delCAGAGACCTTCTGATAAAGGAGCCC	c.(1612-1638)tacagagaccttctgataaaggagcccfs	p.YRDLLIKEP538fs	TANC1_ENST00000454300.1_Frame_Shift_Del_p.YRDLLIKEP432fs	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	538					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						TGGCCGCCTACAGAGACCTTCTGATAAAGGAGCCCCAACTACAGA	0.573																																						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.(1612-1638)tafs		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1																																				SO:0001589	frameshift_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160031574_160031598delCAGAGACCTTCTGATAAAGGAGCCC	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.1614_1638delCAGAGACCTTCTGATAAAGGAGCCC	2.37:g.160031574_160031598delCAGAGACCTTCTGATAAAGGAGCCC	ENSP00000263635:p.Tyr538fs		Somatic				TANC1_ENST00000454300.1_Frame_Shift_Del_p.YRDLLIKEP432fs	p.YRDLLIKEP538fs	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	WXS	Illumina GAIIx	Phase_I	Q9C0D5	TANC1_HUMAN			12	1851_1875	+			538					C9JD88|Q49AI8	Frame_Shift_Del	DEL	ENST00000263635.6	37	c.1614_1638delCAGAGACCTTCTGATAAAGGAGCCC	CCDS42766.1																																																																																				0.573	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			20	133						20	133	---	---	---	---	-	160031598	CAGAGACCTTCTGATAAAGGAGCCC	-	160031574	7	5	13	1	0	1	0	1	0	0	0	0	15559	489	17	0	1652	0	TANC1	2	160031574	Frame_Shift_Del	DEL	CAGAGACCTTCTGATAAAGGAGCCC	TCGA-N5-A59E-01A-11D-A28R-08	50632861	160031574	83167799	15	888										
TRPM8	79054	broad.mit.edu	37	chr2	234847659	234847659	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	tagtatatacgtctgtcctgCgacacggacgcggaaatcct	10	11	1	0			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:234847659C>A	ENST00000324695.4	+	5	406	c.366C>A	c.(364-366)tgC>tgA	p.C122*	TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000409625.1_Nonsense_Mutation_p.C45*|TRPM8_ENST00000355722.4_Nonsense_Mutation_p.C72*	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	122					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GTCTGTCCTGCGACACGGACG	0.547																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(364-366)tgC>tgA		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						83	84	84					2																	234847659		2203	4300	6503	SO:0001587	stop_gained	79054					integral to membrane		g.chr2:234847659C>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.366C>A	2.37:g.234847659C>A	ENSP00000323926:p.Cys122*		Somatic				TRPM8_ENST00000409625.1_Nonsense_Mutation_p.C45*|TRPM8_ENST00000355722.4_Nonsense_Mutation_p.C72*|TRPM8_ENST00000433712.2_5'UTR	p.C122*	NM_024080.4	NP_076985.4	WXS	Illumina GAIIx	Phase_I	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	5	406	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	122					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Nonsense_Mutation	SNP	ENST00000324695.4	37	c.366C>A	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	c	14.05	2.420958	0.42918	.	.	ENSG00000144481	ENST00000324695;ENST00000355722;ENST00000409625	.	.	.	5.62	-6.72	0.01755	.	0.150036	0.47455	D	0.000222	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-20.0421	12.5294	0.56106	0.0924:0.6224:0.0:0.2852	.	.	.	.	X	122;72;45	.	ENSP00000323926:C122X	C	+	3	2	TRPM8	234512398	0.002000	0.14202	0.883000	0.34634	0.209000	0.24338	-1.423000	0.02450	-1.254000	0.02485	-0.480000	0.04831	TGC		0.547	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		54	27	1	0	3.16986e-14	1	3.53917e-14	54	27					A	234847659	C	A	234847659	4	1	13	1	0	0	0	0	0	1	0	0	16607	776	27	5	380	5	TRPM8	2	234847659	Nonsense_Mutation	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08	74816085	234847659	8351714	16	889										
GRM7	2917	broad.mit.edu	37	chr3	7456839	7456839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	aaaaaaagaagacacagatcGcaaatgcacaggtaatttaa	7	6	0	3			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:7456839G>A	ENST00000357716.4	+	5	1437	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	GRM7_ENST00000389336.4_Missense_Mutation_p.R388H|GRM7_ENST00000403881.1_Missense_Mutation_p.R388H|GRM7_ENST00000402647.2_Missense_Mutation_p.R388H|GRM7_ENST00000486284.1_Missense_Mutation_p.R388H	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	388					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.R388P(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GACACAGATCGCAAATGCACA	0.423																																						ENST00000486284.1																			1	Substitution - Missense(1)	p.R388P(1)	lung(1)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(1162-1164)cGc>cAc		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						91	84	87					3																	7456839		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7456839G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1163G>A	3.37:g.7456839G>A	ENSP00000350348:p.Arg388His		Somatic				GRM7_ENST00000402647.2_Missense_Mutation_p.R388H|GRM7_ENST00000403881.1_Missense_Mutation_p.R388H|GRM7_ENST00000357716.4_Missense_Mutation_p.R388H|GRM7_ENST00000389336.4_Missense_Mutation_p.R388H	p.R388H	NM_181874.2	NP_870989.1	WXS	Illumina GAIIx	Phase_I	Q14831	GRM7_HUMAN			5	1437	+			388					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.1163G>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328383	0.60743	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.81	4.94	0.65067	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89336	0.6686	L	0.56340	1.77	0.39075	D	0.960781	D;D;B	0.65815	0.986;0.995;0.246	P;P;B	0.55667	0.578;0.781;0.058	D	0.90370	0.4380	10	0.51188	T	0.08	.	14.1482	0.65364	0.073:0.0:0.927:0.0	.	388;388;388	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	H	388;388;388;388;388;388;388;45	ENSP00000350348:R388H;ENSP00000417536:R388H;ENSP00000373987:R388H;ENSP00000385664:R388H;ENSP00000384585:R388H;ENSP00000395035:R45H	ENSP00000350348:R388H	R	+	2	0	GRM7	7431839	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.547000	0.60712	1.596000	0.50062	0.655000	0.94253	CGC		0.423	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		19	21	0	0	0	1	0	19	21					A	7456839	G	A	7456839	3	1	13	1	0	0	0	0	1	0	0	0	6811	1087	38	1	1181	1	GRM7	3	7456839	Missense_Mutation	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08		7456839	190565591	17	890										
ATP2B2	491	broad.mit.edu	37	chr3	10452444	10452444	+	Frame_Shift_Del	DEL	G	G	-													0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	ggcttctttggaggtataaaGttttgcccaaaaatttgctt							TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:10452444delG	ENST00000352432.4	-	2	324	c.255delC	c.(253-255)aacfs	p.N85fs	ATP2B2_ENST00000397077.1_Frame_Shift_Del_p.N85fs|ATP2B2_ENST00000343816.4_Frame_Shift_Del_p.N85fs|ATP2B2_ENST00000360273.2_Frame_Shift_Del_p.N85fs|ATP2B2_ENST00000383800.4_Frame_Shift_Del_p.N85fs			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	85					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						GAGGTATAAAGTTTTGCCCAA	0.547																																					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.(253-255)aafs		ATPase, Ca++ transporting, plasma membrane 2							202	230	221					3																	10452444		2203	4300	6503	SO:0001589	frameshift_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.chr3:10452444delG	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.255delC	3.37:g.10452444delG	ENSP00000324172:p.Asn85fs		Somatic				ATP2B2_ENST00000383800.4_Frame_Shift_Del_p.N85fs|ATP2B2_ENST00000360273.2_Frame_Shift_Del_p.N85fs|ATP2B2_ENST00000352432.4_Frame_Shift_Del_p.N85fs|ATP2B2_ENST00000343816.4_Frame_Shift_Del_p.N85fs	p.N85fs			WXS	Illumina GAIIx	Phase_I	Q01814	AT2B2_HUMAN			5	830	-			85					O00766|Q12994|Q16818	Frame_Shift_Del	DEL	ENST00000352432.4	37	c.255delC	CCDS33701.1																																																																																				0.547	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		8	385						8	385	---	---	---	---	-	10452444	G	-	10452444	7	5	13	1	0	1	0	1	0	0	0	0	1140	1020	36	0	3560	0	ATP2B2	3	10452444	Frame_Shift_Del	DEL	G	TCGA-N5-A59E-01A-11D-A28R-08	2995605	10452444	187569986	18	891										
DCP1A	55802	broad.mit.edu	37	chr3	53321609	53321609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	ctgctccagtcataggttgtGgttgtctttgttcttggtca	11	8	4	0			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:53321609G>T	ENST00000607628.1	-	10	1853	c.1744C>A	c.(1744-1746)Cac>Aac	p.H582N	RN7SL821P_ENST00000579907.1_RNA|DCP1A_ENST00000294241.6_Missense_Mutation_p.H580N|DCP1A_ENST00000606822.1_Missense_Mutation_p.H544N|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	580					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CATAGGTTGTGGTTGTCTTTG	0.433																																						ENST00000607628.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1744-1746)Cac>Aac		decapping mRNA 1A							161	158	159					3																	53321609		1918	4129	6047	SO:0001583	missense	55802				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding	g.chr3:53321609G>T	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"DCP1 decapping enzyme homolog A (S. cerevisiae)"				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.1744C>A	3.37:g.53321609G>T	ENSP00000475920:p.His582Asn		Somatic				DCP1A_ENST00000606822.1_Missense_Mutation_p.H544N|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Missense_Mutation_p.H580N	p.H582N	NM_018403.5	NP_060873.4	WXS	Illumina GAIIx	Phase_I	Q9NPI6	DCP1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)	10	1853	-			580					B4DHN9|U3KQM8	Missense_Mutation	SNP	ENST00000607628.1	37	c.1744C>A																																																																																					0.433	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403		17	32	1	0	3.32936e-07	1	3.61204e-07	17	32					T	53321609	G	T	53321609	3	4	13	1	0	0	0	0	1	0	0	0	4300	1348	47	5	14	5	DCP1A	3	53321609	Missense_Mutation	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08	42869165	53321609	144700821	19	892										
CCDC66	285331	broad.mit.edu	37	chr3	56647723	56647723	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	gcttcgcttagcacaggaacGtgaagagatgcagaaacagt	12	8	0	3			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:56647723G>T	ENST00000394672.3	+	11	1581	c.1511G>T	c.(1510-1512)cGt>cTt	p.R504L	CCDC66_ENST00000436465.2_Missense_Mutation_p.R504L|CCDC66_ENST00000326595.7_Missense_Mutation_p.R470L	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	504					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)		GCACAGGAACGTGAAGAGATG	0.398																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(1510-1512)cGt>cTt		coiled-coil domain containing 66							185	174	178					3																	56647723		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56647723G>T	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.1511G>T	3.37:g.56647723G>T	ENSP00000378167:p.Arg504Leu		Somatic				CCDC66_ENST00000436465.2_Missense_Mutation_p.R504L|CCDC66_ENST00000326595.7_Missense_Mutation_p.R470L	p.R504L	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)	11	1581	+			504					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.1511G>T	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865783	0.71949	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.49	2.75	0.32379	.	0.696627	0.13836	N	0.359405	T	0.57213	0.2038	M	0.78049	2.395	0.80722	D	1	P	0.46064	0.872	P	0.46685	0.524	T	0.55921	-0.8064	10	0.72032	D	0.01	-8.2949	7.0024	0.24817	0.4187:0.0:0.5813:0.0	.	504	A2RUB6	CCD66_HUMAN	L	460;504;470;504	ENSP00000401451:R460L;ENSP00000378167:R504L;ENSP00000326050:R470L;ENSP00000404320:R504L	ENSP00000326050:R470L	R	+	2	0	CCDC66	56622763	1.000000	0.71417	0.741000	0.31004	0.924000	0.55760	2.005000	0.40864	0.298000	0.22638	0.484000	0.47621	CGT		0.398	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		39	41	1	0	9.8876e-21	1	1.11478e-20	39	41					T	56647723	G	T	56647723	3	4	13	1	0	0	0	0	1	0	0	0	2840	1145	40	5	1553	5	CCDC66	3	56647723	Missense_Mutation	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08	3326114	56647723	141374707	20	893										
GPR15	2838	broad.mit.edu	37	chr3	98251260	98251260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	cctcctgctcacttgcatgaGtgttgaccgctacctggcca	9	15	1	2			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:98251260G>A	ENST00000284311.3	+	1	518	c.383G>A	c.(382-384)aGt>aAt	p.S128N		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	128					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ACTTGCATGAGTGTTGACCGC	0.522																																						ENST00000284311.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(382-384)aGt>aAt		G protein-coupled receptor 15							75	66	69					3																	98251260		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251260G>A		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"GPCR / Class A : Orphans"	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.383G>A	3.37:g.98251260G>A	ENSP00000284311:p.Ser128Asn		Somatic					p.S128N	NM_005290.1	NP_005281.1	WXS	Illumina GAIIx	Phase_I	P49685	GPR15_HUMAN		Lung(72;0.246)	1	518	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	128					Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.383G>A	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540291	0.85917	.	.	ENSG00000154165	ENST00000284311	T	0.81330	-1.48	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	D	0.92312	0.7561	H	0.94620	3.56	0.49687	D	0.999817	D	0.89917	1.0	D	0.85130	0.997	D	0.94066	0.7331	10	0.87932	D	0	-15.1051	15.8177	0.78615	0.0:0.0:1.0:0.0	.	128	P49685	GPR15_HUMAN	N	128	ENSP00000284311:S128N	ENSP00000284311:S128N	S	+	2	0	GPR15	99733950	1.000000	0.71417	0.961000	0.40146	0.977000	0.68977	9.657000	0.98554	2.682000	0.91365	0.591000	0.81541	AGT		0.522	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			19	37	0	0	0	1	0	19	37					A	98251260	G	A	98251260	3	1	13	1	0	0	0	0	1	0	0	0	6663	1029	36	3	385	3	GPR15	3	98251260	Missense_Mutation	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08	41603537	98251260	99771170	21	894										
ATP13A3	79572	broad.mit.edu	37	chr3	194181555	194181555	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	cgactcaaattgtaaccataAatctcctgcatggacacagc	6	12	2	0			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:194181555A>G	ENST00000439040.1	-	4	848	c.57T>C	c.(55-57)atT>atC	p.I19I	ATP13A3_ENST00000256031.4_Silent_p.I19I			Q9H7F0	AT133_HUMAN	ATPase type 13A3	19						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)		TGTAACCATAAATCTCCTGCA	0.403																																						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.(55-57)atT>atC		ATPase type 13A3							60	56	58					3																	194181555		1879	4124	6003	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.chr3:194181555A>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.57T>C	3.37:g.194181555A>G			Somatic				ATP13A3_ENST00000256031.4_Silent_p.I19I	p.I19I			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)	4	848	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	19					Q8NC11|Q96KS1	Silent	SNP	ENST00000439040.1	37	c.57T>C	CCDS43187.1																																																																																				0.403	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		14	104	0	0	0	1	0	14	104					G	194181555	A	G	194181555	2	3	13	1	0	0	0	0	0	0	0	1	1125	10	1	4		4	ATP13A3	3	194181555	Silent	SNP	A	TCGA-N5-A59E-01A-11D-A28R-08	95930295	194181555	3840875	22	895										
MTHFD2L	441024	broad.mit.edu	37	chr4	75065519	75065519	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	tttatttttcagaccacgttGatgagcgaacaatatgcaat	7	7	1	3			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr4:75065519G>C	ENST00000395759.2	+	4	487	c.460G>C	c.(460-462)Gat>Cat	p.D154H	MTHFD2L_ENST00000331145.6_Missense_Mutation_p.D96H|MTHFD2L_ENST00000433372.1_Missense_Mutation_p.D19H|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.D96H	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	154					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)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			AGACCACGTTGATGAGCGAAC	0.313																																						ENST00000395759.2																			0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8						c.(460-462)Gat>Cat		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like							61	64	63					4																	75065519		2203	4300	6503	SO:0001583	missense	441024				folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity	g.chr4:75065519G>C	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.460G>C	4.37:g.75065519G>C	ENSP00000379108:p.Asp154His		Somatic				MTHFD2L_ENST00000331145.6_Missense_Mutation_p.D96H|MTHFD2L_ENST00000433372.1_Missense_Mutation_p.D19H|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.D96H	p.D154H	NM_001144978.1	NP_001138450.1	WXS	Illumina GAIIx	Phase_I	Q9H903	MTD2L_HUMAN	all cancers(17;0.0101)|Lung(101;0.196)		4	487	+			96					Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	c.460G>C	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696997	0.30142	.	.	ENSG00000163738	ENST00000433372;ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T;T	0.34859	1.36;1.73;1.34;1.37;1.75	4.98	4.98	0.66077	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.239694	0.43416	N	0.000573	T	0.64159	0.2573	M	0.91406	3.205	0.39088	D	0.961036	D;D	0.76494	0.999;0.997	D;D	0.76575	0.988;0.919	T	0.72043	-0.4409	10	0.72032	D	0.01	.	9.2113	0.37320	0.0958:0.0:0.9042:0.0	.	154;96	Q9H903;Q9H903-3	MTD2L_HUMAN;.	H	19;154;96;96;96	ENSP00000405692:D19H;ENSP00000379108:D154H;ENSP00000330982:D96H;ENSP00000352012:D96H;ENSP00000321984:D96H	ENSP00000321984:D96H	D	+	1	0	MTHFD2L	75284383	1.000000	0.71417	0.996000	0.52242	0.063000	0.16089	2.426000	0.44731	2.586000	0.87340	0.655000	0.94253	GAT		0.313	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346		17	39	0	0	0	1	0	17	39					C	75065519	G	C	75065519	3	2	13	1	0	0	0	0	1	0	0	0	9939	1290	45	2	474	2	MTHFD2L	4	75065519	Missense_Mutation	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08		75065519	116088757	23	896										
ARSJ	79642	broad.mit.edu	37	chr4	114899926	114899926	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	cccccattgctagcatctttCcaggacagacacaggcctgt	8	15	1	1			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr4:114899926C>A	ENST00000315366.7	-	1	931	c.65G>T	c.(64-66)gGa>gTa	p.G22V	ARSJ_ENST00000503013.2_5'UTR|ARSJ_ENST00000541197.1_Missense_Mutation_p.G22V	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	22					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TAGCATCTTTCCAGGACAGAC	0.607																																						ENST00000315366.7																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21						c.(64-66)gGa>gTa		arylsulfatase family, member J							108	118	115					4																	114899926		1958	4130	6088	SO:0001583	missense	79642					extracellular region	arylsulfatase activity|metal ion binding	g.chr4:114899926C>A		CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"Arylsulfatase family"	26286	protein-coding gene	gene with protein product		610010	"arylsulfatase J"			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.65G>T	4.37:g.114899926C>A	ENSP00000320219:p.Gly22Val		Somatic				ARSJ_ENST00000541197.1_Missense_Mutation_p.G22V|ARSJ_ENST00000503013.2_5'UTR	p.G22V	NM_024590.3	NP_078866.3	WXS	Illumina GAIIx	Phase_I	Q5FYB0	ARSJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	1	931	-		Ovarian(17;0.0035)|Hepatocellular(203;0.217)	22					A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	ENST00000315366.7	37	c.65G>T	CCDS43264.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798493	0.31777	.	.	ENSG00000180801	ENST00000315366;ENST00000541197	D;D	0.97066	-4.22;-4.23	4.86	3.13	0.36017	.	0.492248	0.18791	N	0.131069	D	0.93324	0.7872	L	0.29908	0.895	0.46874	D	0.999237	B;B	0.19935	0.04;0.04	B;B	0.24155	0.051;0.051	D	0.88523	0.3097	10	0.72032	D	0.01	.	9.067	0.36469	0.0:0.755:0.1615:0.0835	.	22;22	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	V	22	ENSP00000320219:G22V;ENSP00000438836:G22V	ENSP00000320219:G22V	G	-	2	0	ARSJ	115119375	0.853000	0.29707	0.009000	0.14445	0.032000	0.12392	1.684000	0.37649	0.449000	0.26747	-0.211000	0.12701	GGA		0.607	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		138	15	1	0	7.39696e-70	1	8.68011e-70	138	15					A	114899926	C	A	114899926	3	1	13	1	0	0	0	0	1	0	0	0	995	855	30	2	1742	2	ARSJ	4	114899926	Missense_Mutation	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08	39834407	114899926	76254350	24	897										
SDHA	6389	broad.mit.edu	37	chr5	240531	240531	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	gaatctgtcatgaatcttgaCaaattgagatttgctgatgg	10	5	3	4			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr5:240531C>G	ENST00000264932.6	+	11	1606	c.1491C>G	c.(1489-1491)gaC>gaG	p.D497E	SDHA_ENST00000504309.1_Missense_Mutation_p.D497E|SDHA_ENST00000510361.1_Missense_Mutation_p.D449E	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	497					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)	TGAATCTTGACAAATTGAGAT	0.428									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(1489-1491)gaC>gaG		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						36	40	38					5																	240531		2199	4299	6498	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.chr5:240531C>G	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.1491C>G	5.37:g.240531C>G	ENSP00000264932:p.Asp497Glu		Somatic				SDHA_ENST00000510361.1_Missense_Mutation_p.D449E|SDHA_ENST00000504309.1_Missense_Mutation_p.D497E	p.D497E	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)		11	1606	+			497					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.1491C>G	CCDS3853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	27.7|27.7	4.851538|4.851538	0.91355|0.91355	.|.	.|.	ENSG00000073578|ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361|ENST00000515815	T;T;T|.	0.72505|.	-0.66;0.14;-0.63|.	4.95|4.95	4.95|4.95	0.65309|0.65309	Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.74869|0.74869	0.3773|0.3773	M|M	0.74389|0.74389	2.26|2.26	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.27679|.	0.185;0.004;0.176;0.018;0.003|.	B;B;B;B;B|.	0.28385|.	0.076;0.007;0.089;0.012;0.004|.	T|T	0.75405|0.75405	-0.3329|-0.3329	10|5	0.59425|.	D|.	0.04|.	.|.	16.0271|16.0271	0.80551|0.80551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	449;497;91;497;497|.	E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040|.	.;.;.;.;DHSA_HUMAN|.	E|R	497;352;497;449|49	ENSP00000264932:D497E;ENSP00000426514:D497E;ENSP00000427703:D449E|.	ENSP00000264932:D497E|.	D|T	+|+	3|2	2|0	SDHA|SDHA	293531|293531	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.979000|2.979000	0.49313|0.49313	2.442000|2.442000	0.82660|0.82660	0.650000|0.650000	0.86243|0.86243	GAC|ACA		0.428	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		4	73	0	0	0	1	0	4	73					G	240531	C	G	240531	3	3	13	1	0	0	0	0	1	0	0	0	13978	477	17	5	1533	5	SDHA	5	240531	Missense_Mutation	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08		240531	180674729	25	898										
HIST1H2AB	8335	broad.mit.edu	37	chr6	26033563	26033563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	tgcaggtggcgcgggatgatGcgggtcttcttgttgtcgcg	18	8	2	1	rs370267838	byFrequency	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:26033563G>A	ENST00000259791.2	-	1	233	c.234C>T	c.(232-234)cgC>cgT	p.R78R	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	78						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGGGATGATGCGGGTCTTCT	0.622													G|||	2	0.000399361	0	0	5008	,	,		16617	0.001		0	False		,,,				2504	0.001					ENST00000259791.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(232-234)cgC>cgT		histone cluster 1, H2ab		G		0,4406		0,0,2203	70	73	72		234	2.5	1	6		72	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	HIST1H2AB	NM_003513.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		78/131	26033563	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8335				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26033563G>A	X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"Histones / Replication-dependent"	4734	protein-coding gene	gene with protein product		602795	"H2A histone family, member M", "histone 1, H2ab"	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.234C>T	6.37:g.26033563G>A			Somatic					p.R78R	NM_003513.2	NP_003504.2	WXS	Illumina GAIIx	Phase_I	P04908	H2A1B_HUMAN			1	233	-			78					P28001|Q76P63	Silent	SNP	ENST00000259791.2	37	c.234C>T	CCDS4574.1																																																																																				0.622	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040082.1	NM_003513		34	106	0	0	0	1	0	34	106					A	26033563	G	A	26033563	2	1	13	1	0	0	0	0	0	0	0	1	7138	1306	46	3		3	HIST1H2AB	6	26033563	Silent	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08		26033563	145081504	26	899										
TNXB	7148	broad.mit.edu	37	chr6	32029445	32029445	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	aggagcggctcctcagggggCtccggggcctccatgctggg	18	13	1	0			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:32029445C>A	ENST00000375244.3	-	21	7422	c.7221G>T	c.(7219-7221)gaG>gaT	p.E2407D	TNXB_ENST00000375247.2_Missense_Mutation_p.E2407D			P22105	TENX_HUMAN	tenascin XB	2467	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTCAGGGGGCTCCGGGGCCT	0.657																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(7219-7221)gaG>gaT		tenascin XB							45	54	51					6																	32029445		1135	2488	3623	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.chr6:32029445C>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.7221G>T	6.37:g.32029445C>A	ENSP00000364393:p.Glu2407Asp		Somatic				TNXB_ENST00000375247.2_Missense_Mutation_p.E2407D	p.E2407D			WXS	Illumina GAIIx	Phase_I	P22105	TENX_HUMAN			21	7422	-			2467			Fibronectin type-III 16.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.7221G>T		.	.	.	.	.	.	.	.	.	.	C	7.107	0.575204	0.13623	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57436	0.56;0.4	3.76	1.98	0.26296	.	0.240516	0.29884	N	0.010956	T	0.41696	0.1170	M	0.86573	2.825	0.19300	N	0.999977	P	0.37997	0.614	P	0.47430	0.547	T	0.44329	-0.9335	10	0.16420	T	0.52	.	5.8809	0.18854	0.0:0.7541:0.0:0.2459	.	2407	P22105-3	.	D	2407	ENSP00000364393:E2407D;ENSP00000364396:E2407D	ENSP00000364393:E2407D	E	-	3	2	TNXB	32137423	0.000000	0.05858	0.696000	0.30242	0.098000	0.18820	-0.243000	0.08915	0.277000	0.22141	0.585000	0.79938	GAG		0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		5	102	1	0	0.00116845	1	0.00121055	5	102					A	32029445	C	A	32029445	3	1	13	1	0	0	0	0	1	0	0	0	16361	796	28	5	7588	5	TNXB	6	32029445	Missense_Mutation	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08	5995882	32029445	139085622	27	900										
PKHD1	5314	broad.mit.edu	37	chr6	51889956	51889956	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	catttcttgtataaaaaactGacaggtagtggggtcctggg	12	6	1	1			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:51889956G>T	ENST00000371117.3	-	32	4927	c.4652C>A	c.(4651-4653)tCa>tAa	p.S1551*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.S1551*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1551	IPT/TIG 10.				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)					ATAAAAAACTGACAGGTAGTG	0.403																																						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.(4651-4653)tCa>tAa		polycystic kidney and hepatic disease 1 (autosomal recessive)							53	55	55					6																	51889956		2203	4300	6503	SO:0001587	stop_gained	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.chr6:51889956G>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.4652C>A	6.37:g.51889956G>T	ENSP00000360158:p.Ser1551*		Somatic				PKHD1_ENST00000340994.4_Nonsense_Mutation_p.S1551*	p.S1551*	NM_138694.3	NP_619639.3	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			32	4927	-	Lung NSC(77;0.0605)		1551			IPT/TIG 10.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	c.4652C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	43	10.385977	0.99395	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.44	5.44	0.79542	.	0.303615	0.28790	N	0.014127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6877	0.51497	0.0808:0.0:0.9192:0.0	.	.	.	.	X	1551	.	ENSP00000341097:S1551X	S	-	2	0	PKHD1	51997915	0.978000	0.34361	0.131000	0.22000	0.171000	0.22731	3.622000	0.54217	2.552000	0.86080	0.650000	0.86243	TCA		0.403	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		10	51	1	0	0.0581538	1	0.0586639	10	51					T	51889956	G	T	51889956	4	4	13	1	0	0	0	0	0	1	0	0	11980	1294	45	2	7755	2	PKHD1	6	51889956	Nonsense_Mutation	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08	19860511	51889956	119225111	28	901										
SLC35D3	340146	broad.mit.edu	37	chr6	137243603	137243603	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	ggggccgcgtgctgggcatcTcggtggccatcgcgcacggg	19	13	1	0			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:137243603T>G	ENST00000331858.4	+	1	202	c.37T>G	c.(37-39)Tcg>Gcg	p.S13A		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	13					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GCTGGGCATCTCGGTGGCCAT	0.701																																						ENST00000331858.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13						c.(37-39)Tcg>Gcg		solute carrier family 35, member D3							25	24	24					6																	137243603		2192	4286	6478	SO:0001583	missense	340146				carbohydrate transport	integral to membrane		g.chr6:137243603T>G		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"Solute carriers"	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.37T>G	6.37:g.137243603T>G	ENSP00000333591:p.Ser13Ala		Somatic					p.S13A	NM_001008783.1	NP_001008783.1	WXS	Illumina GAIIx	Phase_I	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	1	202	+	Colorectal(23;0.24)		13					B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	ENST00000331858.4	37	c.37T>G	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.240072	0.22711	.	.	ENSG00000182747	ENST00000331858	T	0.55930	0.49	4.62	2.09	0.27110	.	0.316214	0.30538	N	0.009420	T	0.12347	0.0300	N	0.17082	0.46	0.32507	N	0.538012	B	0.02656	0.0	B	0.01281	0.0	T	0.18209	-1.0344	10	0.16420	T	0.52	-2.397	7.0593	0.25117	0.1465:0.0:0.1532:0.7003	.	13	Q5M8T2	S35D3_HUMAN	A	13	ENSP00000333591:S13A	ENSP00000333591:S13A	S	+	1	0	SLC35D3	137285296	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	1.832000	0.39151	0.141000	0.18875	0.402000	0.26972	TCG		0.701	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		4	14	0	0	0	1	0	4	14					G	137243603	T	G	137243603	3	3	13	1	0	0	0	0	1	0	0	0	14598	1551	54	4	39	4	SLC35D3	6	137243603	Missense_Mutation	SNP	T	TCGA-N5-A59E-01A-11D-A28R-08	85353647	137243603	33871464	29	902										
ZNF425	155054	broad.mit.edu	37	chr7	148809307	148809307	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	agttgtccttcttgttttatCtaagcatccctgttcgctga	7	10	2	1			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr7:148809307C>G	ENST00000378061.2	-	3	358	c.226G>C	c.(226-228)Gat>Cat	p.D76H	ZNF425_ENST00000484196.1_5'UTR	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			CTTGTTTTATCTAAGCATCCC	0.398																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(226-228)Gat>Cat		zinc finger protein 425							280	240	253					7																	148809307		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148809307C>G	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.226G>C	7.37:g.148809307C>G	ENSP00000367300:p.Asp76His		Somatic				ZNF425_ENST00000484196.1_5'UTR	p.D76H	NM_001001661.2	NP_001001661.1	WXS	Illumina GAIIx	Phase_I	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	358	-	Melanoma(164;0.15)		76			KRAB.		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.226G>C	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	6.404	0.442579	0.12164	.	.	ENSG00000204947	ENST00000378061;ENST00000483014	T;T	0.08370	3.1;4.89	3.26	2.37	0.29283	Krueppel-associated box (1);	.	.	.	.	T	0.04588	0.0125	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.39702	-0.9601	9	0.44086	T	0.13	.	8.2867	0.31932	0.0:0.7553:0.2447:0.0	.	76	Q6IV72	ZN425_HUMAN	H	76;98	ENSP00000367300:D76H;ENSP00000420379:D98H	ENSP00000367300:D76H	D	-	1	0	ZNF425	148440240	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.051000	0.11885	0.569000	0.29329	-0.155000	0.13514	GAT		0.398	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		4	73	0	0	0	1	0	4	73					G	148809307	C	G	148809307	3	3	13	1	0	0	0	0	1	0	0	0	17914	913	32	2	2040	2	ZNF425	7	148809307	Missense_Mutation	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08		148809307	10329356	30	903										
TNKS	8658	broad.mit.edu	37	chr8	9588536	9588536	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	cggtgccgatgtccatgccaAagacaaggggtacgtgttag	14	9	0	1			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr8:9588536A>C	ENST00000310430.6	+	14	2164	c.2138A>C	c.(2137-2139)aAa>aCa	p.K713T	TNKS_ENST00000518281.1_Missense_Mutation_p.K476T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	713					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GTCCATGCCAAAGACAAGGGG	0.438																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(2137-2139)aAa>aCa		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							92	77	82					8																	9588536		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.chr8:9588536A>C	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2138A>C	8.37:g.9588536A>C	ENSP00000311579:p.Lys713Thr		Somatic				TNKS_ENST00000518281.1_Missense_Mutation_p.K476T	p.K713T	NM_003747.2	NP_003738.2	WXS	Illumina GAIIx	Phase_I	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	14	2164	+			713					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.2138A>C	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.967442	0.92855	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.67345	-0.26;-0.26	5.76	5.76	0.90799	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	L	0.41632	1.29	0.80722	D	1	P	0.45176	0.852	P	0.57324	0.818	T	0.71724	-0.4506	10	0.40728	T	0.16	.	16.0796	0.80995	1.0:0.0:0.0:0.0	.	713	O95271	TNKS1_HUMAN	T	713;476	ENSP00000311579:K713T;ENSP00000429890:K476T	ENSP00000311579:K713T	K	+	2	0	TNKS	9625946	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.206000	0.71126	0.533000	0.62120	AAA		0.438	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		7	31	0	0	0	1	0	7	31					C	9588536	A	C	9588536	3	2	13	1	0	0	0	0	1	0	0	0	16334	14	1	4	2192	4	TNKS	8	9588536	Missense_Mutation	SNP	A	TCGA-N5-A59E-01A-11D-A28R-08		9588536	136775486	31	904										
POLR3D	661	broad.mit.edu	37	chr8	22106726	22106726	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	ctgcagctgccagacaccctCcctggccagccacccaccca	7	22	0	1			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr8:22106726C>G	ENST00000397802.4	+	6	1040	c.825C>G	c.(823-825)ctC>ctG	p.L275L	POLR3D_ENST00000306433.4_Silent_p.L275L			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	275					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)		CAGACACCCTCCCTGGCCAGC	0.597																																						ENST00000397802.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13						c.(823-825)ctC>ctG		polymerase (RNA) III (DNA directed) polypeptide D, 44kDa							65	59	61					8																	22106726		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.chr8:22106726C>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.825C>G	8.37:g.22106726C>G			Somatic				POLR3D_ENST00000306433.4_Silent_p.L275L	p.L275L			WXS	Illumina GAIIx	Phase_I	P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	6	1040	+			275					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Silent	SNP	ENST00000397802.4	37	c.825C>G	CCDS34858.1																																																																																				0.597	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		9	49	0	0	0	1	0	9	49					G	22106726	C	G	22106726	2	3	13	1	0	0	0	0	0	0	0	1	12240	842	30	2		2	POLR3D	8	22106726	Silent	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08	12518190	22106726	124257296	32	905										
PXDNL	137902	broad.mit.edu	37	chr8	52320720	52320720	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	aattacagaaaactctgaagTcaacatatggtgggatcccg	9	8	2	2			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr8:52320720T>A	ENST00000356297.4	-	17	3564	c.3464A>T	c.(3463-3465)gAc>gTc	p.D1155V	PXDNL_ENST00000543296.1_Missense_Mutation_p.D1155V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1155					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)				AACTCTGAAGTCAACATATGG	0.433																																						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.(3463-3465)gAc>gTc		peroxidasin homolog (Drosophila)-like							89	89	89					8																	52320720		1833	4096	5929	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52320720T>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3464A>T	8.37:g.52320720T>A	ENSP00000348645:p.Asp1155Val		Somatic				PXDNL_ENST00000543296.1_Missense_Mutation_p.D1155V	p.D1155V	NM_144651.4	NP_653252.3	WXS	Illumina GAIIx	Phase_I	A1KZ92	PXDNL_HUMAN			17	3564	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1155					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3464A>T	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.162|7.162	0.585803|0.585803	0.13749|0.13749	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.74526|.	-0.85;-0.85|.	3.51|3.51	3.51|3.51	0.40186|0.40186	.|.	0.000000|.	0.56097|.	D|.	0.000037|.	T|T	0.70020|0.70020	0.3176|0.3176	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	P|.	0.42871|.	0.792|.	P|.	0.46419|.	0.516|.	T|T	0.69643|0.69643	-0.5090|-0.5090	10|5	0.33940|.	T|.	0.23|.	.|.	9.9704|9.9704	0.41749|0.41749	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1155|.	A1KZ92|.	PXDNL_HUMAN|.	V|S	1155|274	ENSP00000348645:D1155V;ENSP00000444865:D1155V|.	ENSP00000348645:D1155V|.	D|T	-|-	2|1	0|0	PXDNL|PXDNL	52483273|52483273	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.158000|0.158000	0.22134|0.22134	6.987000|6.987000	0.76206|0.76206	1.218000|1.218000	0.43458|0.43458	0.533000|0.533000	0.62120|0.62120	GAC|ACT		0.433	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		24	85	0	0	0	1	0	24	85					A	52320720	T	A	52320720	3	1	13	1	0	0	0	0	1	0	0	0	12863	1667	58	4	955	4	PXDNL	8	52320720	Missense_Mutation	SNP	T	TCGA-N5-A59E-01A-11D-A28R-08	30213994	52320720	94043302	33	906										
FRMD3	257019	broad.mit.edu	37	chr9	85924485	85924485	+	Frame_Shift_Del	DEL	A	A	-													0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	gttttccactccacacttccAaagatgtttgcaggcagctg							TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr9:85924485delA	ENST00000304195.3	-	10	1098	c.892delT	c.(892-894)tggfs	p.W298fs	FRMD3_ENST00000376434.1_Frame_Shift_Del_p.W104fs|FRMD3_ENST00000376438.1_Frame_Shift_Del_p.W298fs	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	298	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)|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						CCACACTTCCAAAGATGTTTG	0.338																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(892-894)ggfs		FERM domain containing 3							52	50	51					9																	85924485		1806	4070	5876	SO:0001589	frameshift_variant	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85924485delA	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.892delT	9.37:g.85924485delA	ENSP00000303508:p.Trp298fs		Somatic				FRMD3_ENST00000376438.1_Frame_Shift_Del_p.W298fs|FRMD3_ENST00000376434.1_Frame_Shift_Del_p.W104fs	p.W298fs	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	WXS	Illumina GAIIx	Phase_I	A2A2Y4	FRMD3_HUMAN			10	1098	-			298			FERM.		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Frame_Shift_Del	DEL	ENST00000304195.3	37	c.892delT	CCDS43840.1																																																																																				0.338	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		9	9						9	9	---	---	---	---	-	85924485	A	-	85924485	7	5	13	1	0	1	0	1	0	0	0	0	6058	130	5	0	921	0	FRMD3	9	85924485	Frame_Shift_Del	DEL	A	TCGA-N5-A59E-01A-11D-A28R-08		85924485	55288946	34	907										
AGAP5	729092	broad.mit.edu	37	chr10	75457378	75457378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	agcaggctgcacagcagcagCcatgggcgctcctgccatcc	12	16	0	0			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr10:75457378C>T	ENST00000374094.4	-	1	176	c.136G>A	c.(136-138)Gct>Act	p.A46T	AGAP5_ENST00000443782.2_Missense_Mutation_p.A46T|RP11-464F9.1_ENST00000399449.3_RNA|RP11-574K11.28_ENST00000580790.1_RNA	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	46					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						ACAGCAGCAGCCATGGGCGCT	0.582																																						ENST00000443782.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						c.(136-138)Gct>Act		ArfGAP with GTPase domain, ankyrin repeat and PH domain 5							57	66	64					10																	75457378		692	1591	2283	SO:0001583	missense	729092				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:75457378C>T		CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23467	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 2"	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.136G>A	10.37:g.75457378C>T	ENSP00000363207:p.Ala46Thr		Somatic				AGAP5_ENST00000374094.4_Missense_Mutation_p.A46T|RP11-464F9.1_ENST00000399449.3_RNA	p.A46T			WXS	Illumina GAIIx	Phase_I	A6NIR3	AGAP5_HUMAN			1	261	-			46					A8MSN5	Missense_Mutation	SNP	ENST00000374094.4	37	c.136G>A	CCDS44439.1	.	.	.	.	.	.	.	.	.	.	-	13.92	2.380950	0.42207	.	.	ENSG00000172650	ENST00000374094;ENST00000443782	D;D	0.88586	-2.4;-2.4	1.4	0.404	0.16355	.	0.062531	0.64402	D	0.000004	D	0.88470	0.6445	L	0.39898	1.24	0.09310	N	1	D	0.63880	0.993	D	0.68192	0.956	T	0.78630	-0.2129	10	0.52906	T	0.07	.	5.3394	0.15974	0.0:0.3798:0.6202:0.0	.	46	A6NIR3	AGAP5_HUMAN	T	46	ENSP00000363207:A46T;ENSP00000402792:A46T	ENSP00000363207:A46T	A	-	1	0	AGAP5	75127384	0.004000	0.15560	0.023000	0.16930	0.097000	0.18754	0.094000	0.15107	0.140000	0.18849	0.184000	0.17185	GCT		0.582	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		XM_001132585		29	119	0	0	0	1	0	29	119					T	75457378	C	T	75457378	3	4	13	1	0	0	0	0	1	0	0	0	371	739	26	3	1956	3	AGAP5	10	75457378	Missense_Mutation	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08		75457378	60077369	35	908										
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651251	1651251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	gctgtgggggatgtggctccGgctgctgtgtgcctgtctgc	18	10	1	0			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:1651251G>A	ENST00000399676.2	+	1	219	c.181G>A	c.(181-183)Ggc>Agc	p.G61S		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	61						keratin filament (GO:0045095)		p.G61S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		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)		atgtggctccggctgCTGTGT	0.682																																						ENST00000399676.2																			1	Substitution - Missense(1)	p.G61S(1)	prostate(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(181-183)Ggc>Agc		keratin associated protein 5-5							57	70	66					11																	1651251		2196	4292	6488	SO:0001583	missense	439915					keratin filament		g.chr11:1651251G>A	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.181G>A	11.37:g.1651251G>A	ENSP00000382584:p.Gly61Ser		Somatic					p.G61S	NM_001001480.2	NP_001001480.2	WXS	Illumina GAIIx	Phase_I	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	219	+		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)	61					A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.181G>A	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	-	0.150	-1.092370	0.01858	.	.	ENSG00000185940	ENST00000399676	T	0.00691	5.84	3.73	1.09	0.20402	.	.	.	.	.	T	0.00328	0.0010	N	0.01352	-0.895	0.18873	N	0.999988	B	0.10296	0.003	B	0.04013	0.001	T	0.41360	-0.9513	9	0.07990	T	0.79	.	3.0968	0.06312	0.4645:0.0:0.3441:0.1915	.	61	Q701N2	KRA55_HUMAN	S	61	ENSP00000382584:G61S	ENSP00000382584:G61S	G	+	1	0	KRTAP5-5	1607827	0.509000	0.26163	0.989000	0.46669	0.064000	0.16182	-0.215000	0.09279	-0.039000	0.13602	-1.322000	0.01289	GGC		0.682	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			92	34	0	0	0	1	0	92	34					A	1651251	G	A	1651251	3	1	13	1	0	0	0	0	1	0	0	0	8573	1116	39	1	183	1	KRTAP5-5	11	1651251	Missense_Mutation	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08		1651251	133355265	36	909										
MRVI1	10335	broad.mit.edu	37	chr11	10625994	10625996	+	In_Frame_Del	DEL	CTC	CTC	-													0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	tccagttctttctcagtgttCtcctctgtcaggttgcgttc							TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:10625994_10625996delCTC	ENST00000436272.1	-	12	1696_1698	c.1618_1620delGAG	c.(1618-1620)gagdel	p.E540del	MRVI1_ENST00000531107.1_In_Frame_Del_p.E559del|MRVI1_ENST00000534266.2_In_Frame_Del_p.E252del|MRVI1_ENST00000545852.1_In_Frame_Del_p.E252del|MRVI1_ENST00000552103.1_In_Frame_Del_p.E476del|MRVI1_ENST00000421747.1_In_Frame_Del_p.E558del|MRVI1_ENST00000424001.1_In_Frame_Del_p.E252del|MRVI1_ENST00000558540.1_In_Frame_Del_p.E252del|MRVI1_ENST00000547195.1_In_Frame_Del_p.E476del|MRVI1_ENST00000423302.2_In_Frame_Del_p.E567del|MRVI1_ENST00000541483.1_In_Frame_Del_p.E361del|MRVI1_ENST00000527509.2_In_Frame_Del_p.E476del|LYVE1_ENST00000531706.1_Intron			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	540	Interaction with ITPR1. {ECO:0000250}.				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)		TCTCAGTGTTCTCCTCTGTCAGG	0.473																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(1426-1428)del		murine retrovirus integration site 1 homolog																																				SO:0001651	inframe_deletion	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10625994_10625996delCTC	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.1618_1620delGAG	11.37:g.10625997_10625999delCTC	ENSP00000412229:p.Glu540del		Somatic				MRVI1_ENST00000527509.2_In_Frame_Del_p.E476del|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000531107.1_In_Frame_Del_p.E559del|MRVI1_ENST00000558540.1_In_Frame_Del_p.E252del|MRVI1_ENST00000424001.1_In_Frame_Del_p.E252del|MRVI1_ENST00000552103.1_In_Frame_Del_p.E476del|MRVI1_ENST00000421747.1_In_Frame_Del_p.E558del|MRVI1_ENST00000534266.2_In_Frame_Del_p.E252del|MRVI1_ENST00000545852.1_In_Frame_Del_p.E252del|MRVI1_ENST00000436272.1_In_Frame_Del_p.E540del|MRVI1_ENST00000541483.1_In_Frame_Del_p.E361del|MRVI1_ENST00000423302.2_In_Frame_Del_p.E567del	p.E476del	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)	12	1926_1928	-			540					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	In_Frame_Del	DEL	ENST00000436272.1	37	c.1426_1428delGAG																																																																																					0.473	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		45	13						45	13	---	---	---	---	-	10625996	CTC	-	10625994	7	5	13	1	0	1	0	1	0	0	0	0	9862	912	32	0	1073	0	MRVI1	11	10625994	In_Frame_Del	DEL	CTC	TCGA-N5-A59E-01A-11D-A28R-08	8974743	10625994	124380522	37	910										
PRDM11	56981	broad.mit.edu	37	chr11	45203391	45203391	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	tatggtgacggtggtgaagaCggaggtctgctcaccactcc	14	10	2	3			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:45203391C>G	ENST00000530656.1	+	2	176	c.176C>G	c.(175-177)aCg>aGg	p.T59R	PRDM11_ENST00000263765.4_Missense_Mutation_p.T59R|PRDM11_ENST00000424263.2_Missense_Mutation_p.T25R			Q9NQV5	PRD11_HUMAN	PR domain containing 11	59				KTEVCSPLRD -> NPS (in Ref. 1; AAF87244). {ECO:0000305}.			methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GTGGTGAAGACGGAGGTCTGC	0.622																																					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.(175-177)aCg>aGg		PR domain containing 11							83	68	73					11																	45203391		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45203391C>G	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.176C>G	11.37:g.45203391C>G	ENSP00000435976:p.Thr59Arg		Somatic				PRDM11_ENST00000530656.1_Missense_Mutation_p.T59R|PRDM11_ENST00000424263.2_Missense_Mutation_p.T25R	p.T59R			WXS	Illumina GAIIx	Phase_I	Q9NQV5	PRD11_HUMAN			3	425	+			59	KTEVCSPLRD -> NPS (in Ref. 1; AAF87244).				Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.176C>G		.	.	.	.	.	.	.	.	.	.	C	20.3	3.964140	0.74131	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000526442;ENST00000424263	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000003	T	0.57932	0.2087	L	0.36672	1.1	0.36047	D	0.840526	D	0.89917	1.0	D	0.91635	0.999	T	0.64193	-0.6465	10	0.44086	T	0.13	-14.3311	13.6261	0.62165	0.0:0.8448:0.1552:0.0	.	59	Q9NQV5	PRD11_HUMAN	R	59;59;25;25	ENSP00000263765:T59R;ENSP00000435976:T59R;ENSP00000431898:T25R;ENSP00000394314:T25R	ENSP00000263765:T59R	T	+	2	0	PRDM11	45159967	0.995000	0.38212	0.994000	0.49952	0.991000	0.79684	3.190000	0.50973	2.472000	0.83506	0.491000	0.48974	ACG		0.622	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		33	7	0	0	0	1	0	33	7					G	45203391	C	G	45203391	3	3	13	1	0	0	0	0	1	0	0	0	12464	536	19	5	182	5	PRDM11	11	45203391	Missense_Mutation	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08	34577397	45203391	89803125	38	911										
OR4C12	283093	broad.mit.edu	37	chr11	50003362	50003362	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	acacctcccctccaagctatTgttctttaaagatctcaaga	4	13	2	2			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:50003362T>G	ENST00000335238.4	-	1	709	c.676A>C	c.(676-678)Aat>Cat	p.N226H		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	226						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						TCCAAGCTATTGTTCTTTAAA	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.(676-678)Aat>Cat		olfactory receptor, family 4, subfamily C, member 12							85	80	82					11																	50003362		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003362T>G	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.676A>C	11.37:g.50003362T>G	ENSP00000334418:p.Asn226His		Somatic					p.N226H	NM_001005270.2	NP_001005270.1	WXS	Illumina GAIIx	Phase_I	Q96R67	OR4CC_HUMAN			1	709	-			226					B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.676A>C	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.865733	0.00063	.	.	ENSG00000221954	ENST00000335238	T	0.37058	1.22	3.31	-4.52	0.03472	GPCR, rhodopsin-like superfamily (1);	0.397411	0.18109	U	0.151432	T	0.05914	0.0154	N	0.00355	-1.605	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35699	-0.9778	10	0.02654	T	1	.	6.7724	0.23601	0.2364:0.0:0.599:0.1647	.	226	Q96R67	OR4CC_HUMAN	H	226	ENSP00000334418:N226H	ENSP00000334418:N226H	N	-	1	0	OR4C12	49959938	0.000000	0.05858	0.001000	0.08648	0.241000	0.25554	0.217000	0.17603	-0.766000	0.04639	-1.141000	0.01876	AAT		0.408	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		7	42	0	0	0	1	0	7	42					G	50003362	T	G	50003362	3	3	13	1	0	0	0	0	1	0	0	0	11055	1812	63	4	257	4	OR4C12	11	50003362	Missense_Mutation	SNP	T	TCGA-N5-A59E-01A-11D-A28R-08	4799971	50003362	85003154	39	912										
ZBTB3	79842	broad.mit.edu	37	chr11	62520200	62520200	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	tgacacatcagtctcttcatCagagatcacaatagcttcaa	5	11	6	2			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:62520200C>G	ENST00000394807.3	-	2	1212	c.1087G>C	c.(1087-1089)Gat>Cat	p.D363H		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GTCTCTTCATCAGAGATCACA	0.577																																						ENST00000394807.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						c.(1087-1089)Gat>Cat		zinc finger and BTB domain containing 3							67	64	65					11																	62520200		2202	4299	6501	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62520200C>G	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.1087G>C	11.37:g.62520200C>G	ENSP00000378286:p.Asp363His		Somatic					p.D363H	NM_024784.3	NP_079060.1	WXS	Illumina GAIIx	Phase_I	Q9H5J0	ZBTB3_HUMAN			2	1212	-			363						Missense_Mutation	SNP	ENST00000394807.3	37	c.1087G>C	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326097	0.60743	.	.	ENSG00000185670	ENST00000394807	T	0.17213	2.29	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	L	0.34521	1.04	0.47214	D	0.999358	D	0.89917	1.0	D	0.91635	0.999	T	0.03259	-1.1055	10	0.56958	D	0.05	.	14.3094	0.66405	0.0:1.0:0.0:0.0	.	363	Q9H5J0	ZBTB3_HUMAN	H	363	ENSP00000378286:D363H	ENSP00000378286:D363H	D	-	1	0	ZBTB3	62276776	1.000000	0.71417	0.961000	0.40146	0.983000	0.72400	6.135000	0.71696	2.242000	0.73789	0.561000	0.74099	GAT		0.577	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		27	35	0	0	0	1	0	27	35					G	62520200	C	G	62520200	3	3	13	1	0	0	0	0	1	0	0	0	17549	826	29	2	641	2	ZBTB3	11	62520200	Missense_Mutation	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08	12516838	62520200	72486316	40	913										
ANO2	57101	broad.mit.edu	37	chr12	5708651	5708651	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	caggaccatgggttctcactCatttccatgtactccggagt	9	12	2	0			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:5708651C>G	ENST00000356134.5	-	22	2306	c.2235G>C	c.(2233-2235)atG>atC	p.M745I	ANO2_ENST00000546188.1_Splice_Site_p.M745I|ANO2_ENST00000327087.8_Splice_Site_p.M744I	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	749					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						GGTTCTCACTCATTTCCATGT	0.542																																						ENST00000546188.1																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.e21+1		anoctamin 2							222	227	225					12																	5708651		2175	4273	6448	SO:0001630	splice_region_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5708651C>G	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.2236+1G>C	12.37:g.5708651C>G			Somatic				ANO2_ENST00000327087.8_Splice_Site_p.M744_splice|ANO2_ENST00000356134.5_Splice_Site_p.M745_splice	p.M745_splice			WXS	Illumina GAIIx	Phase_I	Q9NQ90	ANO2_HUMAN			21	2306	-			749					C4N787|Q9H847	Splice_Site	SNP	ENST00000356134.5	37	c.2236_splice		.	.	.	.	.	.	.	.	.	.	C	15.96	2.987669	0.53934	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.66280	-0.2;-0.2;-0.2	5.55	5.55	0.83447	.	0.140639	0.64402	D	0.000009	T	0.74794	0.3763	M	0.87381	2.88	0.54753	D	0.999989	P	0.40553	0.721	P	0.46253	0.509	T	0.79014	-0.1976	10	0.62326	D	0.03	.	16.9868	0.86341	0.0:1.0:0.0:0.0	.	744	Q9NQ90-3	.	I	744;745;745;749	ENSP00000314048:M744I;ENSP00000348453:M745I;ENSP00000440981:M745I	ENSP00000314048:M744I	M	-	3	0	ANO2	5578912	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	6.168000	0.71908	2.611000	0.88343	0.563000	0.77884	ATG		0.542	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	Missense_Mutation	18	204	0	0	0	1	0	18	204					G	5708651	C	G	5708651	5	3	13	1	0	0	0	0	0	0	1	0	697	840	29	2	788	2	ANO2	12	5708651	Splice_Site	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08		5708651	128143244	41	914										
C3AR1	719	broad.mit.edu	37	chr12	8211663	8211663	+	Frame_Shift_Del	DEL	G	G	-													0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	acggccactcgaaaggttttGctctgagacttggcgaagcg							TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:8211663delG	ENST00000307637.4	-	2	1322	c.1119delC	c.(1117-1119)agcfs	p.S373fs		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	373					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GAAAGGTTTTGCTCTGAGACT	0.512																																						ENST00000307637.4																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(1117-1119)agfs		complement component 3a receptor 1							67	60	63					12																	8211663		2203	4300	6503	SO:0001589	frameshift_variant	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8211663delG	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"Complement system", "GPCR / Class A : Complement component receptors"	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.1119delC	12.37:g.8211663delG	ENSP00000302079:p.Ser373fs		Somatic					p.S373fs	NM_004054.2	NP_004045.1	WXS	Illumina GAIIx	Phase_I	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	1322	-			373					O43771|Q92868	Frame_Shift_Del	DEL	ENST00000307637.4	37	c.1119delC	CCDS8588.1																																																																																				0.512	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			64	47						64	47	---	---	---	---	-	8211663	G	-	8211663	7	5	13	1	0	1	0	1	0	0	0	0	2207	1310	46	0	333	0	C3AR1	12	8211663	Frame_Shift_Del	DEL	G	TCGA-N5-A59E-01A-11D-A28R-08	2503012	8211663	125640232	42	915										
GPRC5A	9052	broad.mit.edu	37	chr12	13061636	13061636	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	caggatgttatcgctattgaAtatattgtcctgaccatgaa	8	7	0	3			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:13061636A>G	ENST00000014914.5	+	2	1343	c.453A>G	c.(451-453)gaA>gaG	p.E151E	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	151					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)	TCGCTATTGAATATATTGTCC	0.527																																						ENST00000014914.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(451-453)gaA>gaG		G protein-coupled receptor, family C, group 5, member A	Tretinoin(DB00755)						196	186	190					12																	13061636		2203	4300	6503	SO:0001819	synonymous_variant	0					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	g.chr12:13061636A>G	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.453A>G	12.37:g.13061636A>G			Somatic				GPRC5A_ENST00000542056.1_Intron	p.E151E	NM_003979.3	NP_003970.1	WXS	Illumina GAIIx	Phase_I	Q8NFJ5	RAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0708)	2	1343	+		Prostate(47;0.141)	151					B3KV45|O95357	Silent	SNP	ENST00000014914.5	37	c.453A>G	CCDS8657.1																																																																																				0.527	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1			204	131	0	0	0	1	0	204	131					G	13061636	A	G	13061636	2	3	13	1	0	0	0	0	0	0	0	1	6733	98	4	4		4	GPRC5A	12	13061636	Silent	SNP	A	TCGA-N5-A59E-01A-11D-A28R-08	4849973	13061636	120790259	43	916										
IPO8	10526	broad.mit.edu	37	chr12	30834617	30834617	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	atgtcttcaccagttgatacAggcataataaactgccaagc	7	10	2	1			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:30834617A>T	ENST00000256079.4	-	4	796	c.458T>A	c.(457-459)cTg>cAg	p.L153Q		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	153					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			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)					CAGTTGATACAGGCATAATAA	0.423																																						ENST00000256079.4																			0				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.(457-459)cTg>cAg		importin 8							117	107	110					12																	30834617		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30834617A>T	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.458T>A	12.37:g.30834617A>T	ENSP00000256079:p.Leu153Gln		Somatic					p.L153Q	NM_006390.3	NP_006381.2	WXS	Illumina GAIIx	Phase_I	O15397	IPO8_HUMAN			4	796	-	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)		153					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.458T>A	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.463488	0.84425	.	.	ENSG00000133704	ENST00000256079;ENST00000535989	T;T	0.79845	-1.31;-1.31	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.90896	0.7139	M	0.90705	3.14	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.92751	0.6216	10	0.72032	D	0.01	-13.4719	14.9217	0.70843	1.0:0.0:0.0:0.0	.	153	O15397	IPO8_HUMAN	Q	153;91	ENSP00000256079:L153Q;ENSP00000440979:L91Q	ENSP00000256079:L153Q	L	-	2	0	IPO8	30725884	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	8.802000	0.91910	2.122000	0.65172	0.482000	0.46254	CTG		0.423	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		14	86	0	0	0	1	0	14	86					T	30834617	A	T	30834617	3	4	13	1	0	0	0	0	1	0	0	0	7807	188	7	4	2743	4	IPO8	12	30834617	Missense_Mutation	SNP	A	TCGA-N5-A59E-01A-11D-A28R-08	17772981	30834617	103017278	44	917										
ABCD2	225	broad.mit.edu	37	chr12	40012651	40012651	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	caagtcctgctagtagggtgGgcccaattgggcttgctcct	13	11	0	0			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:40012651G>T	ENST00000308666.3	-	1	902	c.767C>A	c.(766-768)cCc>cAc	p.P256H		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	256	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TAGTAGGGTGGGCCCAATTGG	0.448																																						ENST00000308666.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(766-768)cCc>cAc		ATP-binding cassette, sub-family D (ALD), member 2							118	116	117					12																	40012651		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40012651G>T	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.767C>A	12.37:g.40012651G>T	ENSP00000310688:p.Pro256His		Somatic					p.P256H	NM_005164.3	NP_005155.1	WXS	Illumina GAIIx	Phase_I	Q9UBJ2	ABCD2_HUMAN			1	902	-			256			ABC transmembrane type-1.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.767C>A	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760404	0.69763	.	.	ENSG00000173208	ENST00000308666	D	0.91577	-2.87	5.18	5.18	0.71444	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.96451	0.8842	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97114	0.9806	9	.	.	.	-1.1799	18.7279	0.91722	0.0:0.0:1.0:0.0	.	256	Q9UBJ2	ABCD2_HUMAN	H	256	ENSP00000310688:P256H	.	P	-	2	0	ABCD2	38298918	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.296000	0.96104	2.412000	0.81896	0.557000	0.71058	CCC		0.448	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		55	51	1	0	1.39843e-22	1	1.59227e-22	55	51					T	40012651	G	T	40012651	3	4	13	1	0	0	0	0	1	0	0	0	61	1232	43	5	1495	5	ABCD2	12	40012651	Missense_Mutation	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08	9178034	40012651	93839244	45	918										
ERBB3	2065	broad.mit.edu	37	chr12	56490829	56490829	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	ataccttttgtgtctcttagCatatgctggccattggcagc	9	10	1	0			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:56490829C>T	ENST00000267101.3	+	20	2715	c.2275C>T	c.(2275-2277)Cat>Tat	p.H759Y	ERBB3_ENST00000415288.2_Splice_Site_p.H700Y|ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000553131.1_5'UTR|ERBB3_ENST00000450146.2_Splice_Site_p.H116Y	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	759	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)			TGTCTCTTAGCATATGCTGGC	0.527																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.e20-1		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							94	78	84					12																	56490829		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.chr12:56490829C>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.2275-1C>T	12.37:g.56490829C>T			Somatic				ERBB3_ENST00000553131.1_5'UTR|ERBB3_ENST00000450146.2_Splice_Site_p.H116_splice|ERBB3_ENST00000415288.2_Splice_Site_p.H700_splice	p.H759_splice	NM_001982.3	NP_001973.2	WXS	Illumina GAIIx	Phase_I	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		20	2715	+			759			Protein kinase.		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Splice_Site	SNP	ENST00000267101.3	37	c.2274_splice	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328857	0.81690	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288	T;T;T	0.61980	0.06;0.06;0.06	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.68760	0.3036	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65841	-0.6070	9	.	.	.	.	18.7304	0.91733	0.0:1.0:0.0:0.0	.	759	P21860	ERBB3_HUMAN	Y	759;116;700	ENSP00000267101:H759Y;ENSP00000399178:H116Y;ENSP00000408340:H700Y	.	H	+	1	0	ERBB3	54777096	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.442000	0.59988	2.793000	0.96121	0.561000	0.74099	CAT		0.527	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3		Missense_Mutation	35	39	0	0	0	1	0	35	39					T	56490829	C	T	56490829	5	4	13	1	0	0	0	0	0	0	1	0	5210	724	25	3	2484	3	ERBB3	12	56490829	Splice_Site	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08	16478178	56490829	77361066	46	919										
LIN7A	8825	broad.mit.edu	37	chr12	81239693	81239693	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	gagggtgggagtggccttcaCtagctgcaaaagctgcaact	14	9	1	0			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:81239693C>A	ENST00000552864.1	-	4	501	c.299G>T	c.(298-300)aGt>aTt	p.S100I		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	100					exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GTGGCCTTCACTAGCTGCAAA	0.408																																						ENST00000552864.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						c.(298-300)aGt>aTt		lin-7 homolog A (C. elegans)							44	43	43					12																	81239693		2203	4300	6503	SO:0001583	missense	8825				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding	g.chr12:81239693C>A	AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"mammalian LIN-7 1"	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.299G>T	12.37:g.81239693C>A	ENSP00000447488:p.Ser100Ile		Somatic					p.S100I	NM_004664.2	NP_004655.1	WXS	Illumina GAIIx	Phase_I	O14910	LIN7A_HUMAN			4	501	-			100					A4FTY3|Q147W1|Q6LES3|Q7LDS4	Missense_Mutation	SNP	ENST00000552864.1	37	c.299G>T	CCDS9021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.41|17.41	3.383106|3.383106	0.61845|0.61845	.|.	.|.	ENSG00000111052|ENSG00000111052	ENST00000552864;ENST00000549417|ENST00000552093	T;T|.	0.39787|.	2.04;1.06|.	5.27|5.27	5.27|5.27	0.74061|0.74061	PDZ/DHR/GLGF (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73799|0.73799	0.3633|0.3633	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D|.	0.62365|.	0.991|.	P|.	0.61201|.	0.885|.	T|T	0.71540|0.71540	-0.4562|-0.4562	10|5	0.87932|.	D|.	0|.	-10.0392|-10.0392	19.2615|19.2615	0.93970|0.93970	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	100|.	O14910|.	LIN7A_HUMAN|.	I|L	100;94|66	ENSP00000447488:S100I;ENSP00000448975:S94I|.	ENSP00000448975:S94I|.	S|V	-|-	2|1	0|0	LIN7A|LIN7A	79763824|79763824	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.079000|0.079000	0.17450|0.17450	7.776000|7.776000	0.85560|0.85560	2.614000|2.614000	0.88457|0.88457	0.655000|0.655000	0.94253|0.94253	AGT|GTG		0.408	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1			18	0	1	0	9.16793e-09	1	1.00411e-08	18	0					A	81239693	C	A	81239693	3	1	13	1	0	0	0	0	1	0	0	0	8819	565	20	5	410	5	LIN7A	12	81239693	Missense_Mutation	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08	24748864	81239693	52612202	47	920										
KDM2B	84678	broad.mit.edu	37	chr12	121947777	121947777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	ctgaggctgctgatcacaggCctcctcctccatctccagcc	8	18	2	2			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:121947777C>T	ENST00000377071.4	-	11	1312	c.1240G>A	c.(1240-1242)Gcc>Acc	p.A414T	KDM2B_ENST00000542973.1_5'Flank|KDM2B_ENST00000536437.1_Missense_Mutation_p.A297T|KDM2B_ENST00000377069.4_Missense_Mutation_p.A383T|KDM2B_ENST00000538046.2_Missense_Mutation_p.A324T	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	414	Glu-rich.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TGATCACAGGCCTCCTCCTCC	0.627																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1147-1149)Gcc>Acc		lysine (K)-specific demethylase 2B							34	41	39					12																	121947777		2031	4164	6195	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121947777C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1240G>A	12.37:g.121947777C>T	ENSP00000366271:p.Ala414Thr		Somatic				KDM2B_ENST00000377071.4_Missense_Mutation_p.A414T|KDM2B_ENST00000538046.2_Missense_Mutation_p.A324T|KDM2B_ENST00000536437.1_Missense_Mutation_p.A297T	p.A383T	NM_001005366.1	NP_001005366.1	WXS	Illumina GAIIx	Phase_I	Q8NHM5	KDM2B_HUMAN			11	1553	-			414					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.1147G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101183	0.37048	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000261824;ENST00000446152;ENST00000542030	T;T;T;T;T	0.44482	2.55;1.96;0.96;0.96;0.92	5.14	2.78	0.32641	.	0.110120	0.40818	N	0.001001	T	0.19967	0.0480	N	0.08118	0	0.25239	N	0.989762	B;B;B;B	0.17038	0.02;0.002;0.002;0.002	B;B;B;B	0.14023	0.01;0.007;0.007;0.007	T	0.17349	-1.0372	10	0.23891	T	0.37	-17.922	8.1656	0.31224	0.7877:0.1407:0.0717:0.0	.	414;297;414;383	E7EML5;Q1RLM7;Q8NHM5;A8MRS1	.;.;KDM2B_HUMAN;.	T	414;383;414;297;414;414;377;116	ENSP00000366269:A383T;ENSP00000366271:A414T;ENSP00000445196:A297T;ENSP00000398279:A377T;ENSP00000444846:A116T	ENSP00000261824:A414T	A	-	1	0	KDM2B	120432160	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.268000	0.72552	0.383000	0.24910	-0.262000	0.10625	GCC		0.627	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		27	4	0	0	0	1	0	27	4					T	121947777	C	T	121947777	3	4	13	1	0	0	0	0	1	0	0	0	8134	739	26	3	2874	3	KDM2B	12	121947777	Missense_Mutation	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08	40708084	121947777	11904118	48	921										
TMTC4	84899	broad.mit.edu	37	chr13	101266664	101266664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	cacgcattcaaggcatccacGtggcgattgagatctgcata	10	11	2	1	rs201076381	byFrequency	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr13:101266664G>A	ENST00000376234.3	-	15	1989	c.1800C>T	c.(1798-1800)caC>caT	p.H600H	TMTC4_ENST00000328767.5_Silent_p.H489H|TMTC4_ENST00000342624.5_Silent_p.H619H	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	600						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)					AGGCATCCACGTGGCGATTGA	0.413													G|||	2	0.000399361	0	0	5008	,	,		16139	0.002		0	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.(1855-1857)caC>caT		transmembrane and tetratricopeptide repeat containing 4		G	,	0,4406		0,0,2203	149	130	137		1800,1857	-2.5	0.1	13		137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TMTC4	NM_001079669.1,NM_032813.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	600/742,619/761	101266664	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84899					integral to membrane	binding	g.chr13:101266664G>A		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1800C>T	13.37:g.101266664G>A			Somatic				TMTC4_ENST00000376234.3_Silent_p.H600H|TMTC4_ENST00000328767.5_Silent_p.H489H	p.H619H	NM_032813.2	NP_116202.2	WXS	Illumina GAIIx	Phase_I	Q5T4D3	TMTC4_HUMAN			16	2115	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		600					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP	ENST00000376234.3	37	c.1857C>T	CCDS41904.1																																																																																				0.413	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		10	93	0	0	0	1	0	10	93					A	101266664	G	A	101266664	2	1	13	1	0	0	0	0	0	0	0	1	16278	1136	40	1		1	TMTC4	13	101266664	Silent	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08		101266664	13903214	49	922										
MCF2L	23263	broad.mit.edu	37	chr13	113748841	113748841	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	ctcttaggttggagcaaaacGtcccactcactggaggcacc	10	13	2	0	rs373771218		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr13:113748841G>T	ENST00000375608.3	+	28	3115	c.3057G>T	c.(3055-3057)acG>acT	p.T1019T	MCF2L_ENST00000375604.2_Silent_p.T1046T|MCF2L_ENST00000397030.1_Silent_p.T1022T|MCF2L_ENST00000442652.2_Silent_p.T1019T|MCF2L_ENST00000375601.3_Silent_p.T993T|MCF2L_ENST00000434480.2_Silent_p.T995T|MCF2L_ENST00000423482.2_Silent_p.T987T|MCF2L_ENST00000535094.2_Silent_p.T989T|MCF2L_ENST00000421756.1_Silent_p.T993T			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1019					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)				GGAGCAAAACGTCCCACTCAC	0.622																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(3064-3066)acG>acT		MCF.2 cell line derived transforming sequence-like							38	41	40					13																	113748841		1562	3579	5141	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.chr13:113748841G>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.3057G>T	13.37:g.113748841G>T			Somatic				MCF2L_ENST00000423482.2_Silent_p.T987T|MCF2L_ENST00000421756.1_Silent_p.T993T|MCF2L_ENST00000442652.2_Silent_p.T1019T|MCF2L_ENST00000434480.2_Silent_p.T995T|MCF2L_ENST00000375604.2_Silent_p.T1046T|MCF2L_ENST00000375601.3_Silent_p.T993T|MCF2L_ENST00000535094.2_Silent_p.T989T|MCF2L_ENST00000375608.3_Silent_p.T1019T	p.T1022T			WXS	Illumina GAIIx	Phase_I	O15068	MCF2L_HUMAN			27	3103	+	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)	1019					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.3066G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.015|0.015	-1.552158|-1.552158	0.00918|0.00918	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000413354;ENST00000261963;ENST00000420013|ENST00000397017;ENST00000453297;ENST00000439475;ENST00000441756	.|.	.|.	.|.	4.66|4.66	-9.32|-9.32	0.00643|0.00643	.|.	.|.	.|.	.|.	.|.	T|T	0.46425|0.46425	0.1392|0.1392	.|.	.|.	.|.	0.46901|0.46901	D|D	0.999249|0.999249	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.59899|0.59899	-0.7367|-0.7367	4|4	.|.	.|.	.|.	.|.	7.5532|7.5532	0.27808|0.27808	0.3238:0.0633:0.48:0.1329|0.3238:0.0633:0.48:0.1329	.|.	.|.	.|.	.|.	L|F	272;160;61|675;200;126;18	.|.	.|.	R|V	+|+	2|1	0|0	MCF2L|MCF2L	112796842|112796842	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-4.275000|-4.275000	0.00261|0.00261	-3.869000|-3.869000	0.00097|0.00097	-4.128000|-4.128000	0.00010|0.00010	CGT|GTC		0.622	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			5	39	1	0	0.000602214	1	0.000635364	5	39					T	113748841	G	T	113748841	2	4	13	1	0	0	0	0	0	0	0	1	9388	1132	40	5		5	MCF2L	13	113748841	Silent	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08	12482177	113748841	1421037	50	923										
CYP1A2	1544	broad.mit.edu	37	chr15	75042815	75042815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	tccccatccttcgctacctgCctaaccctgccctgcagagg	7	19	0	1			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr15:75042815C>T	ENST00000343932.4	+	2	799	c.736C>T	c.(736-738)Cct>Tct	p.P246S		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	246					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	TCGCTACCTGCCTAACCCTGC	0.552																																						ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(736-738)Cct>Tct		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						127	125	126					15																	75042815		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042815C>T	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.736C>T	15.37:g.75042815C>T	ENSP00000342007:p.Pro246Ser		Somatic					p.P246S	NM_000761.3	NP_000752.2	WXS	Illumina GAIIx	Phase_I	P05177	CP1A2_HUMAN			2	799	+			246					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.736C>T	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427320	0.62733	.	.	ENSG00000140505	ENST00000343932	D	0.81821	-1.54	4.98	4.98	0.66077	.	0.048170	0.85682	D	0.000000	D	0.92756	0.7697	H	0.94503	3.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94598	0.7793	10	0.87932	D	0	.	18.4252	0.90606	0.0:1.0:0.0:0.0	.	246	P05177-2	.	S	246	ENSP00000342007:P246S	ENSP00000342007:P246S	P	+	1	0	CYP1A2	72829868	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	7.419000	0.80179	2.580000	0.87095	0.561000	0.74099	CCT		0.552	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		33	116	0	0	0	1	0	33	116					T	75042815	C	T	75042815	3	4	13	1	0	0	0	0	1	0	0	0	4152	739	26	3	738	3	CYP1A2	15	75042815	Missense_Mutation	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08		75042815	27488577	51	924										
ITGAD	3681	broad.mit.edu	37	chr16	31434762	31434762	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	gtggctgtgtgggatgtggtCatggaggccccatctcaggt	17	8	2	0			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr16:31434762C>A	ENST00000389202.2	+	25	2998	c.2949C>A	c.(2947-2949)gtC>gtA	p.V983V		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	983				V -> A (in Ref. 3; AAB60638). {ECO:0000305}.	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						GGGATGTGGTCATGGAGGCCC	0.542																																						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.(2947-2949)gtC>gtA		integrin, alpha D							178	154	162					16																	31434762		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.chr16:31434762C>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.2949C>A	16.37:g.31434762C>A			Somatic					p.V983V	NM_005353.2	NP_005344.2	WXS	Illumina GAIIx	Phase_I	Q13349	ITAD_HUMAN			25	2998	+			983	V -> A (in Ref. 3; AAB60638).				Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.2949C>A	CCDS32438.1																																																																																				0.542	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		106	43	1	0	1.73998e-50	1	2.02119e-50	106	43					A	31434762	C	A	31434762	2	1	13	1	0	0	0	0	0	0	0	1	7893	813	29	2		2	ITGAD	16	31434762	Silent	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08		31434762	58919991	52	925										
NUP93	9688	broad.mit.edu	37	chr16	56792513	56792513	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	tcccagcgattggagagtctGagtgcagccaccacctttga	11	12	1	3			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr16:56792513G>T	ENST00000308159.5	+	3	364	c.243G>T	c.(241-243)ctG>ctT	p.L81L	NUP93_ENST00000569842.1_Silent_p.L81L	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	81					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)|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 membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGGAGAGTCTGAGTGCAGCCA	0.517																																					Colon(33;610 796 1305 1705 38917)	ENST00000569842.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(241-243)ctG>ctT		nucleoporin 93kDa							104	90	95					16																	56792513		2198	4300	6498	SO:0001819	synonymous_variant	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56792513G>T	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.243G>T	16.37:g.56792513G>T			Somatic				NUP93_ENST00000308159.5_Silent_p.L81L	p.L81L			WXS	Illumina GAIIx	Phase_I	Q8N1F7	NUP93_HUMAN			3	339	+			81					B3KPQ8|Q14705	Silent	SNP	ENST00000308159.5	37	c.243G>T	CCDS10769.1																																																																																				0.517	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		11	38	1	0	0.000673444	1	0.000704055	11	38					T	56792513	G	T	56792513	2	4	13	1	0	0	0	0	0	0	0	1	10781	1277	45	2		2	NUP93	16	56792513	Silent	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08	25357751	56792513	33562240	53	926										
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	accagacctcaggcggctcaTagggcaccaccacactatgt	9	15	2	1	rs121912666		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr17:7578190T>G	ENST00000269305.4	-	6	848	c.659A>C	c.(658-660)tAt>tCt	p.Y220S	TP53_ENST00000413465.2_Missense_Mutation_p.Y220S|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.Y220S|TP53_ENST00000445888.2_Missense_Mutation_p.Y220S|TP53_ENST00000455263.2_Missense_Mutation_p.Y220S|TP53_ENST00000359597.4_Missense_Mutation_p.Y220S	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	220	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:7682763, ECO:0000269|PubMed:9450901}.|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 a brain tumor 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	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"		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(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	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tCt	Other conserved DNA damage response genes	tumor protein p53							102	94	97					17																	7578190		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.chr17:7578190T>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.659A>C	17.37:g.7578190T>G	ENSP00000269305:p.Tyr220Ser	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_ENST00000359597.4_Missense_Mutation_p.Y220S|TP53_ENST00000455263.2_Missense_Mutation_p.Y220S|TP53_ENST00000445888.2_Missense_Mutation_p.Y220S|TP53_ENST00000269305.4_Missense_Mutation_p.Y220S|TP53_ENST00000413465.2_Missense_Mutation_p.Y220S	p.Y220S	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	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		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 a brain tumor with no family history; 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.659A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.447753	0.84101	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	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);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	A	1	D;D;D;D;D;D;D	0.89917	1.0;0.994;0.997;1.0;0.995;0.968;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.921;0.963;1.0;0.977;0.926;1.0	D	0.96735	0.9542	9	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220S;ENSP00000352610:Y220S;ENSP00000269305:Y220S;ENSP00000398846:Y220S;ENSP00000391127:Y220S;ENSP00000391478:Y220S;ENSP00000425104:Y88S;ENSP00000423862:Y127S	ENSP00000269305:Y220S	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	4	0	0	0	1	0	29	4					G	7578190	T	G	7578190	3	3	13	1	0	0	0	0	1	0	0	0	16396	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-N5-A59E-01A-11D-A28R-08		7578190	73617020	54	927										
AZI1	22994	broad.mit.edu	37	chr17	79180597	79180597	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	acggtgcattctttcctccgCgggcccgctggtgagtcaag	13	13	2	1			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr17:79180597C>T	ENST00000269392.4	-	5	709	c.462G>A	c.(460-462)ccG>ccA	p.P154P	AZI1_ENST00000575907.1_Silent_p.P154P|AZI1_ENST00000450824.2_Silent_p.P154P|AZI1_ENST00000570482.2_5'Flank|AZI1_ENST00000374782.3_Silent_p.P154P	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		154					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTTTCCTCCGCGGGCCCGCTG	0.632																																						ENST00000269392.4																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(460-462)ccG>ccA		5-azacytidine induced 1							70	82	78					17																	79180597		2203	4300	6503	SO:0001819	synonymous_variant	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79180597C>T																												ENST00000269392.4:c.462G>A	17.37:g.79180597C>T			Somatic				AZI1_ENST00000374782.3_Silent_p.P154P|AZI1_ENST00000575907.1_Silent_p.P154P|AZI1_ENST00000450824.2_Silent_p.P154P	p.P154P	NM_014984.2	NP_055799.2	WXS	Illumina GAIIx	Phase_I	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		5	709	-	all_neural(118;0.0804)|Melanoma(429;0.242)		154					A6NHI8|B2RN11|Q96F50	Silent	SNP	ENST00000269392.4	37	c.462G>A																																																																																					0.632	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			9	72	0	0	0	1	0	9	72					T	79180597	C	T	79180597	2	4	13	1	0	0	0	0	0	0	0	1	1240	755	27	1		1	AZI1	17	79180597	Silent	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08	71602407	79180597	2014613	55	928										
NARF	26502	broad.mit.edu	37	chr17	80445875	80445875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	ggcagatggaaggcatttacGctgacatccctgtgcggcgt	14	10	0	2			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr17:80445875G>A	ENST00000309794.11	+	11	1411	c.1213G>A	c.(1213-1215)Gct>Act	p.A405T	NARF_ENST00000345415.7_Missense_Mutation_p.A357T|NARF_ENST00000457415.3_Missense_Mutation_p.A451T|NARF_ENST00000390006.4_Missense_Mutation_p.A346T	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	405						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AGGCATTTACGCTGACATCCC	0.592																																						ENST00000390006.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1036-1038)Gct>Act		nuclear prelamin A recognition factor							93	82	86					17																	80445875		2203	4300	6503	SO:0001583	missense	26502					lamin filament	lamin binding	g.chr17:80445875G>A	BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.1213G>A	17.37:g.80445875G>A	ENSP00000309899:p.Ala405Thr		Somatic				NARF_ENST00000345415.7_Missense_Mutation_p.A357T|NARF_ENST00000309794.10_Missense_Mutation_p.A405T|NARF_ENST00000457415.3_Missense_Mutation_p.A451T	p.A346T	NM_001038618.2	NP_001033707.1	WXS	Illumina GAIIx	Phase_I	Q9UHQ1	NARF_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		11	1510	+	Breast(20;0.00106)|all_neural(118;0.0804)		405					A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	ENST00000309794.11	37	c.1036G>A	CCDS32777.1	.	.	.	.	.	.	.	.	.	.	.	10.19	1.283354	0.23392	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	T;T;T	0.41758	0.99;0.99;0.99	5.58	-4.23	0.03789	Iron hydrogenase, small subunit-like (3);Iron hydrogenase (1);	0.256906	0.45867	N	0.000323	T	0.25680	0.0625	L	0.52126	1.63	0.31074	N	0.712653	P;B;P;P	0.45672	0.646;0.356;0.864;0.657	B;B;B;B	0.39094	0.128;0.069;0.29;0.158	T	0.48647	-0.9017	10	0.15066	T	0.55	-7.7375	7.7072	0.28657	0.3171:0.0:0.5791:0.1039	.	451;357;452;405	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	T	346;452;405;357	ENSP00000374656:A346T;ENSP00000309899:A405T;ENSP00000283996:A357T	ENSP00000309899:A405T	A	+	1	0	NARF	78039164	0.897000	0.30589	0.001000	0.08648	0.454000	0.32378	0.970000	0.29383	-1.162000	0.02797	-0.271000	0.10264	GCT		0.592	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		10	51	0	0	0	1	0	10	51					A	80445875	G	A	80445875	3	1	13	1	0	0	0	0	1	0	0	0	10176	1087	38	1	1397	1	NARF	17	80445875	Missense_Mutation	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08	1265278	80445875	749335	56	929										
PIK3C3	5289	broad.mit.edu	37	chr18	39573236	39573236	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	tattgctctgtaatctaggaCggtgatgaatcatctccaat	8	8	4	2	rs373306733		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr18:39573236C>G	ENST00000262039.4	+	7	803	c.717C>G	c.(715-717)gaC>gaG	p.D239E	PIK3C3_ENST00000398870.3_Missense_Mutation_p.D176E	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	239					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						TAATCTAGGACGGTGATGAAT	0.284										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.(715-717)gaC>gaG		phosphatidylinositol 3-kinase, catalytic subunit type 3							95	94	94					18																	39573236		2202	4300	6502	SO:0001583	missense	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.chr18:39573236C>G	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.717C>G	18.37:g.39573236C>G	ENSP00000262039:p.Asp239Glu	TSP Lung(28;0.18)	Somatic				PIK3C3_ENST00000398870.3_Missense_Mutation_p.D176E	p.D239E	NM_002647.2	NP_002638.2	WXS	Illumina GAIIx	Phase_I	Q8NEB9	PK3C3_HUMAN			7	803	+			239					Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.717C>G	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.260148	0.39995	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.62639	0.01;0.38	5.67	3.33	0.38152	.	0.044538	0.85682	D	0.000000	T	0.50309	0.1608	L	0.37800	1.135	0.80722	D	1	P;P	0.38711	0.591;0.643	B;B	0.40940	0.344;0.268	T	0.34576	-0.9823	9	.	.	.	.	8.0608	0.30631	0.0:0.3037:0.0:0.6963	.	176;239	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	E	239;176	ENSP00000262039:D239E;ENSP00000381845:D176E	.	D	+	3	2	PIK3C3	37827234	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	0.622000	0.24433	0.529000	0.28599	-0.302000	0.09304	GAC		0.284	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		6	31	0	0	0	1	0	6	31					G	39573236	C	G	39573236	3	3	13	1	0	0	0	0	1	0	0	0	11921	535	19	5	743	5	PIK3C3	18	39573236	Missense_Mutation	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08		39573236	38504012	57	930										
MYBPC2	4606	broad.mit.edu	37	chr19	50964799	50964799	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	cctccctgtccccacactagGagtggttcaacgtctatgaa	8	14	2	1	rs567328640		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr19:50964799G>A	ENST00000357701.5	+	25	2983	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	978	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCCACACTAGGAGTGGTTCAA	0.512											OREG0025636	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	,	,		19752	0.001		0	False		,,,				2504	0					ENST00000357701.5																			0				breast(1)	1						c.e25-1		myosin binding protein C, fast type							78	76	77					19																	50964799		2036	4197	6233	SO:0001630	splice_region_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50964799G>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.2932-1G>A	19.37:g.50964799G>A			Somatic	OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	973		p.E978_splice	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)	25	2983	+		all_neural(266;0.057)	978			Fibronectin type-III 3.		A1L4G9	Splice_Site	SNP	ENST00000357701.5	37	c.2931_splice	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	g	34	5.292288	0.95546	.	.	ENSG00000086967	ENST00000357701	T	0.58210	0.35	4.55	4.55	0.56014	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.35013	U	0.003513	T	0.62221	0.2410	L	0.48362	1.52	0.80722	D	1	P	0.47034	0.889	P	0.57960	0.83	T	0.60125	-0.7324	9	.	.	.	.	16.4672	0.84083	0.0:0.0:1.0:0.0	.	978	Q14324	MYPC2_HUMAN	K	978	ENSP00000350332:E978K	.	E	+	1	0	MYBPC2	55656611	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	8.921000	0.92784	2.254000	0.74563	0.550000	0.68814	GAG		0.512	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533	Missense_Mutation	3	14	0	0	0	1	0	3	14					A	50964799	G	A	50964799	5	1	13	1	0	0	0	0	0	0	1	0	10021	1188	41	3	3030	3	MYBPC2	19	50964799	Splice_Site	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08		50964799	8164184	58	931										
KLK2	3817	broad.mit.edu	37	chr19	51381707	51381707	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	aatggtgtgcttcaaggtatCacatcatggggccctgagcc	12	10	3	1			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr19:51381707C>G	ENST00000325321.3	+	5	903	c.678C>G	c.(676-678)atC>atG	p.I226M	KLK2_ENST00000358049.4_3'UTR|KLK2_ENST00000391810.2_Missense_Mutation_p.I124M			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	226	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)		TTCAAGGTATCACATCATGGG	0.532			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.(676-678)atC>atG		kallikrein-related peptidase 2							215	201	206					19																	51381707		2203	4300	6503	SO:0001583	missense	3817				proteolysis		serine-type endopeptidase activity	g.chr19:51381707C>G	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.678C>G	19.37:g.51381707C>G	ENSP00000313581:p.Ile226Met		Somatic				KLK2_ENST00000391810.2_Missense_Mutation_p.I124M|KLK2_ENST00000358049.4_3'UTR	p.I226M			WXS	Illumina GAIIx	Phase_I	P20151	KLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)	5	903	+		all_neural(266;0.026)	226			Peptidase S1.		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	ENST00000325321.3	37	c.678C>G	CCDS12808.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038436	0.35989	.	.	ENSG00000167751	ENST00000325321;ENST00000391810	D;D	0.92099	-2.97;-2.97	3.41	-1.06	0.10002	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.625587	0.13259	N	0.401415	D	0.94699	0.8290	M	0.85542	2.76	0.09310	N	0.999991	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.984	D	0.86400	0.1741	10	0.87932	D	0	.	4.9163	0.13847	0.0:0.4669:0.2777:0.2554	.	209;226	B4DU77;P20151	.;KLK2_HUMAN	M	226;124	ENSP00000313581:I226M;ENSP00000375686:I124M	ENSP00000313581:I226M	I	+	3	3	KLK2	56073519	0.002000	0.14202	0.002000	0.10522	0.042000	0.13812	-0.876000	0.04201	0.045000	0.15804	0.467000	0.42956	ATC		0.532	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	NM_005551.3		54	103	0	0	0	1	0	54	103					G	51381707	C	G	51381707	3	3	13	1	0	0	0	0	1	0	0	0	8413	816	29	2	733	2	KLK2	19	51381707	Missense_Mutation	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08	416908	51381707	7747276	59	932										
FPR2	2358	broad.mit.edu	37	chr19	52272749	52272749	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	tctatggcaagtacaaaatcAttgacatcctggttaaccca	6	10	2	1			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr19:52272749A>T	ENST00000598776.1	+	2	1610	c.838A>T	c.(838-840)Att>Ttt	p.I280F	FPR2_ENST00000598953.1_Missense_Mutation_p.I280F|FPR2_ENST00000340023.6_Missense_Mutation_p.I280F	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	280					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						GTACAAAATCATTGACATCCT	0.498																																						ENST00000598776.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(838-840)Att>Ttt		formyl peptide receptor 2							134	119	124					19																	52272749		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.chr19:52272749A>T	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.838A>T	19.37:g.52272749A>T	ENSP00000468897:p.Ile280Phe		Somatic				FPR2_ENST00000340023.6_Missense_Mutation_p.I280F|FPR2_ENST00000598953.1_Missense_Mutation_p.I280F	p.I280F	NM_001462.3	NP_001453.1	WXS	Illumina GAIIx	Phase_I	P25090	FPR2_HUMAN			2	1610	+			280					A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.838A>T	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	10.10	1.257877	0.22965	.	.	ENSG00000171049	ENST00000340023	T	0.37235	1.21	3.96	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.771452	0.11430	U	0.564942	T	0.32675	0.0837	L	0.52823	1.66	0.09310	N	1	B	0.06786	0.001	B	0.15870	0.014	T	0.25813	-1.0121	10	0.34782	T	0.22	.	9.9496	0.41631	0.5459:0.4541:0.0:0.0	.	280	P25090	FPR2_HUMAN	F	280	ENSP00000340191:I280F	ENSP00000340191:I280F	I	+	1	0	FPR2	56964561	0.002000	0.14202	0.004000	0.12327	0.033000	0.12548	0.282000	0.18829	0.434000	0.26340	-0.714000	0.03626	ATT		0.498	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		13	45	0	0	0	1	0	13	45					T	52272749	A	T	52272749	3	4	13	1	0	0	0	0	1	0	0	0	6047	217	8	4	840	4	FPR2	19	52272749	Missense_Mutation	SNP	A	TCGA-N5-A59E-01A-11D-A28R-08	891042	52272749	6856234	60	933										
PPP2R1A	5518	broad.mit.edu	37	chr19	52715971	52715971	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	cctgtgctcagatgacacccCcatggtgcggcgggccgcag	14	15	1	2			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr19:52715971C>G	ENST00000322088.6	+	5	594	c.536C>G	c.(535-537)cCc>cGc	p.P179R	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R|PPP2R1A_ENST00000462990.1_5'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.P179R(21)|p.P179L(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		26	Substitution - Missense(26)	p.P179R(21)|p.P179L(5)	endometrium(25)|ovary(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(535-537)cCc>cGc		protein phosphatase 2, regulatory subunit A, alpha							61	52	55					19																	52715971		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715971C>G		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.536C>G	19.37:g.52715971C>G	ENSP00000324804:p.Pro179Arg		Somatic				PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R|PPP2R1A_ENST00000462990.1_5'UTR	p.P179R	NM_014225.5	NP_055040.2	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	594	+			179			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.536C>G	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457832	0.84317	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.16597	2.33;2.33	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.092820	0.45867	D	0.000326	T	0.55226	0.1907	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.995	T	0.70695	-0.4801	10	0.87932	D	0	-22.0504	15.1189	0.72426	0.0:1.0:0.0:0.0	.	124;179;179	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	R	169;99;179;124	ENSP00000324804:P179R;ENSP00000415067:P124R	ENSP00000324804:P179R	P	+	2	0	PPP2R1A	57407783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.760000	0.74939	2.503000	0.84419	0.655000	0.94253	CCC		0.612	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		13	38	0	0	0	1	0	13	38					G	52715971	C	G	52715971	3	3	13	1	0	0	0	0	1	0	0	0	12394	623	22	5	554	5	PPP2R1A	19	52715971	Missense_Mutation	SNP	C	TCGA-N5-A59E-01A-11D-A28R-08	443222	52715971	6413012	61	934										
SSTR4	6754	broad.mit.edu	37	chr20	23016960	23016960	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	cctttctacgtggtgcagctGctgaacctcttcgtgaccag	10	13	2	2			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr20:23016960G>C	ENST00000255008.3	+	1	904	c.840G>C	c.(838-840)ctG>ctC	p.L280L	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	280					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGGTGCAGCTGCTGAACCTCT	0.572																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(838-840)ctG>ctC		somatostatin receptor 4							199	206	204					20																	23016960		2203	4300	6503	SO:0001819	synonymous_variant	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016960G>C		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.840G>C	20.37:g.23016960G>C			Somatic				RP4-753D10.3_ENST00000440921.1_RNA	p.L280L	NM_001052.2	NP_001043.2	WXS	Illumina GAIIx	Phase_I	P31391	SSR4_HUMAN			1	904	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		280					Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	ENST00000255008.3	37	c.840G>C	CCDS42856.1																																																																																				0.572	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			20	128	0	0	0	1	0	20	128					C	23016960	G	C	23016960	2	2	13	1	0	0	0	0	0	0	0	1	15215	1306	46	5		5	SSTR4	20	23016960	Silent	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08		23016960	40008560	62	935										
SNTA1	6640	broad.mit.edu	37	chr20	31996508	31996508	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	gaggcagcccctcactcacgAtctcgccttcagcacctcca	7	19	4	0			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr20:31996508A>T	ENST00000217381.2	-	7	1695	c.1424T>A	c.(1423-1425)aTc>aAc	p.I475N		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	475	SU.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CTCACTCACGATCTCGCCTTC	0.622																																						ENST00000217381.2																			0				breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						c.e7+1		syntrophin, alpha 1							99	97	98					20																	31996508		2203	4300	6503	SO:0001630	splice_region_variant	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:31996508A>T	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"pro-TGF-alpha cytoplasmic domain-interacting protein 1", "dystrophin-associated protein A1, 59kDa, acidic component"	601017	"syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.1425+1T>A	20.37:g.31996508A>T			Somatic					p.I475_splice	NM_003098.2	NP_003089.1	WXS	Illumina GAIIx	Phase_I	Q13424	SNTA1_HUMAN			7	1695	-			475			SU.		A8K7H9|B4DX40|E1P5N1|Q16438	Splice_Site	SNP	ENST00000217381.2	37	c.1425_splice	CCDS13220.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.401430	0.83120	.	.	ENSG00000101400	ENST00000217381	D	0.85773	-2.03	4.7	4.7	0.59300	.	0.066144	0.64402	D	0.000018	D	0.90109	0.6910	M	0.64997	1.995	0.54753	D	0.999989	D;D	0.76494	0.978;0.999	P;D	0.67231	0.694;0.95	D	0.90899	0.4767	10	0.62326	D	0.03	-1.9036	13.8445	0.63459	1.0:0.0:0.0:0.0	.	400;475	B4DX40;Q13424	.;SNTA1_HUMAN	N	475	ENSP00000217381:I475N	ENSP00000217381:I475N	I	-	2	0	SNTA1	31460169	1.000000	0.71417	0.993000	0.49108	0.926000	0.56050	8.996000	0.93539	1.751000	0.51876	0.379000	0.24179	ATC		0.622	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098	Missense_Mutation	6	226	0	0	0	1	0	6	226					T	31996508	A	T	31996508	5	4	13	1	0	0	0	0	0	0	1	0	14886	347	12	4	101	4	SNTA1	20	31996508	Splice_Site	SNP	A	TCGA-N5-A59E-01A-11D-A28R-08	8979548	31996508	31029012	63	936										
SAMHD1	25939	broad.mit.edu	37	chr20	35545400	35545400	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	caatgccatttcttttattaGatactatctcataaaggaag	5	7	2	1			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr20:35545400G>C	ENST00000262878.4	-	8	1104	c.905C>G	c.(904-906)tCt>tGt	p.S302C	SAMHD1_ENST00000373694.5_Missense_Mutation_p.S87C	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	302	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S302Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TCTTTTATTAGATACTATCTC	0.363																																						ENST00000262878.4																			1	Substitution - Missense(1)	p.S302Y(1)	large_intestine(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(904-906)tCt>tGt		SAM domain and HD domain 1							59	55	57					20																	35545400		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35545400G>C	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.905C>G	20.37:g.35545400G>C	ENSP00000262878:p.Ser302Cys		Somatic				SAMHD1_ENST00000373694.5_Missense_Mutation_p.S87C	p.S302C	NM_015474.3	NP_056289.2	WXS	Illumina GAIIx	Phase_I	Q9Y3Z3	SAMH1_HUMAN			8	1104	-		Myeloproliferative disorder(115;0.00878)	302			HD.		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.905C>G	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887946	0.91814	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.96491	-4.03;-4.03	5.67	5.67	0.87782	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.206543	0.49916	D	0.000130	D	0.97077	0.9045	L	0.56340	1.77	0.58432	D	0.999992	D	0.57899	0.981	P	0.58577	0.841	D	0.96684	0.9506	10	0.49607	T	0.09	-9.7048	19.7192	0.96135	0.0:0.0:1.0:0.0	.	302	Q9Y3Z3	SAMH1_HUMAN	C	302;87	ENSP00000262878:S302C;ENSP00000362798:S87C	ENSP00000262878:S302C	S	-	2	0	SAMHD1	34978814	1.000000	0.71417	0.990000	0.47175	0.834000	0.47266	9.671000	0.98627	2.823000	0.97156	0.591000	0.81541	TCT		0.363	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		18	25	0	0	0	1	0	18	25					C	35545400	G	C	35545400	3	2	13	1	0	0	0	0	1	0	0	0	13843	942	33	2	1011	2	SAMHD1	20	35545400	Missense_Mutation	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08	3548892	35545400	27480120	64	937										
ZNF335	63925	broad.mit.edu	37	chr20	44592260	44592260	+	Frame_Shift_Del	DEL	A	A	-													0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	tgcggcacaggaagggcctcAaaagtggtttgggcgacttg							TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr20:44592260delA	ENST00000322927.2	-	9	1485	c.1385delT	c.(1384-1386)ttgfs	p.L462fs	ZNF335_ENST00000426788.1_Frame_Shift_Del_p.L307fs	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	462					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GAAGGGCCTCAAAAGTGGTTT	0.577																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(1384-1386)tgfs		zinc finger protein 335							239	221	227					20																	44592260		2203	4300	6503	SO:0001589	frameshift_variant	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44592260delA	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1385delT	20.37:g.44592260delA	ENSP00000325326:p.Leu462fs		Somatic				ZNF335_ENST00000426788.1_Frame_Shift_Del_p.L307fs	p.L462fs	NM_022095.3	NP_071378.1	WXS	Illumina GAIIx	Phase_I	Q9H4Z2	ZN335_HUMAN			9	1485	-		Myeloproliferative disorder(115;0.0122)	462					B4DLG7|Q548D0|Q9H684	Frame_Shift_Del	DEL	ENST00000322927.2	37	c.1385delT	CCDS13389.1																																																																																				0.577	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		30	308						30	308	---	---	---	---	-	44592260	A	-	44592260	7	5	13	1	0	1	0	1	0	0	0	0	17867	131	5	0	2723	0	ZNF335	20	44592260	Frame_Shift_Del	DEL	A	TCGA-N5-A59E-01A-11D-A28R-08	9046860	44592260	18433260	65	938										
LIMK2	3985	broad.mit.edu	37	chr22	31658195	31658195	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	cgcatcctggagatcaatggGacccccgtccgcacacttcg	10	16	1	1			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr22:31658195G>A	ENST00000331728.4	+	6	741	c.627G>A	c.(625-627)ggG>ggA	p.G209G	LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Silent_p.G188G|LIMK2_ENST00000406516.1_Silent_p.G131G|LIMK2_ENST00000340552.4_Silent_p.G188G	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	209	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGATCAATGGGACCCCCGTCC	0.557																																						ENST00000331728.4																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(625-627)ggG>ggA		LIM domain kinase 2							137	132	133					22																	31658195		2203	4300	6503	SO:0001819	synonymous_variant	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31658195G>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.627G>A	22.37:g.31658195G>A			Somatic				LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Silent_p.G188G|LIMK2_ENST00000406516.1_Silent_p.G131G|LIMK2_ENST00000340552.4_Silent_p.G188G	p.G209G	NM_005569.3	NP_005560.1	WXS	Illumina GAIIx	Phase_I	P53671	LIMK2_HUMAN			6	741	+			209			PDZ.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Silent	SNP	ENST00000331728.4	37	c.627G>A	CCDS13891.1																																																																																				0.557	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		27	91	0	0	0	1	0	27	91					A	31658195	G	A	31658195	2	1	13	1	0	0	0	0	0	0	0	1	8811	1161	41	3		3	LIMK2	22	31658195	Silent	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08		31658195	19646371	66	939										
BPIL2	254240	broad.mit.edu	37	chr22	32843231	32843231	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	tcgaacccccagtctgtgctGatgttggcagtgccatggtt	12	11	1	1			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr22:32843231G>C	ENST00000397452.1	-	4	452	c.342C>G	c.(340-342)atC>atG	p.I114M	BPIFC_ENST00000432451.2_De_novo_Start_OutOfFrame|BPIFC_ENST00000534972.1_De_novo_Start_OutOfFrame|BPIFC_ENST00000300399.3_Missense_Mutation_p.I114M			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	114						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										AGTCTGTGCTGATGTTGGCAG	0.443																																						ENST00000534972.1																			0													BPI fold containing family C							143	123	130					22																	32843231		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32843231G>C	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.342C>G	22.37:g.32843231G>C	ENSP00000380594:p.Ile114Met		Somatic				BPIFC_ENST00000397452.1_Missense_Mutation_p.I114M|BPIFC_ENST00000300399.3_Missense_Mutation_p.I114M|BPIFC_ENST00000432451.2_De_novo_Start_OutOfFrame				WXS	Illumina GAIIx	Phase_I	Q8NFQ6	BPIL2_HUMAN			0	467	-								A2RRF1	Translation_Start_Site	SNP	ENST00000397452.1	37		CCDS13906.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003438	0.74932	.	.	ENSG00000184459	ENST00000397452;ENST00000300399	T;T	0.05996	3.36;3.36	5.87	5.87	0.94306	.	0.182272	0.50627	D	0.000116	T	0.22742	0.0549	M	0.77616	2.38	0.80722	D	1	P	0.51147	0.942	P	0.57371	0.819	T	0.00009	-1.2461	10	0.72032	D	0.01	-18.0558	16.0731	0.80948	0.0:0.0:1.0:0.0	.	114	Q8NFQ6	BPIFC_HUMAN	M	114	ENSP00000380594:I114M;ENSP00000300399:I114M	ENSP00000300399:I114M	I	-	3	3	BPIFC	31173231	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.697000	0.61782	2.941000	0.99782	0.655000	0.94253	ATC		0.443	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		7	81	0	0	0	1	0	7	81					C	32843231	G	C	32843231	3	2	13	1	0	0	0	0	1	0	0	0	1494	1280	45	2	1233	2	BPIL2	22	32843231	Missense_Mutation	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08	1185036	32843231	18461335	67	940										
BRD1	23774	broad.mit.edu	37	chr22	50216636	50216636	+	Silent	SNP	G	G	A													0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	aggagcgcacacggtcggcaGgaccgcgcagggctcagcca							TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr22:50216636G>A	ENST00000216267.8	-	1	1816	c.1330C>T	c.(1330-1332)Ctg>Ttg	p.L444L	BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000457780.2_Silent_p.L444L|BRD1_ENST00000404034.1_Silent_p.L444L|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000542442.1_Silent_p.L83L|BRD1_ENST00000404760.1_Silent_p.L444L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	444					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)		ACGGTCGGCAGGACCGCGCAG	0.572																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(1330-1332)Ctg>Ttg		bromodomain containing 1							123	123	123					22																	50216636		2203	4300	6503	SO:0001819	synonymous_variant	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50216636G>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.1330C>T	22.37:g.50216636G>A			Somatic				BRD1_ENST00000404034.1_Silent_p.L444L|BRD1_ENST00000542442.1_Silent_p.L83L|BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000457780.2_Silent_p.L444L|BRD1_ENST00000404760.1_Silent_p.L444L|BRD1_ENST00000459821.1_5'UTR	p.L444L	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	1816	-		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)	444					A6ZJA4	Silent	SNP	ENST00000216267.8	37	c.1330C>T	CCDS14080.1																																																																																				0.572	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		56	117	0	0	0	1	0	56	117					A	50216636	G	A	50216636	2	1	13	1	0	0	0	0	0	0	0	1	1503	991	35	3		3	BRD1	22	50216636	Silent	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08	17373405	50216636	1087930	68	941	5	2								
BRD1	23774	broad.mit.edu	37	chr22	50216637	50216637	+	Silent	SNP	G	G	T													0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	ggagcgcacacggtcggcagGaccgcgcagggctcagccag							TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr22:50216637G>T	ENST00000216267.8	-	1	1815	c.1329C>A	c.(1327-1329)gtC>gtA	p.V443V	BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000457780.2_Silent_p.V443V|BRD1_ENST00000404034.1_Silent_p.V443V|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000542442.1_Silent_p.V82V|BRD1_ENST00000404760.1_Silent_p.V443V	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	443					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)		CGGTCGGCAGGACCGCGCAGG	0.567																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(1327-1329)gtC>gtA		bromodomain containing 1							124	123	124					22																	50216637		2203	4300	6503	SO:0001819	synonymous_variant	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50216637G>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.1329C>A	22.37:g.50216637G>T			Somatic				BRD1_ENST00000404034.1_Silent_p.V443V|BRD1_ENST00000542442.1_Silent_p.V82V|BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000457780.2_Silent_p.V443V|BRD1_ENST00000404760.1_Silent_p.V443V|BRD1_ENST00000459821.1_5'UTR	p.V443V	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	1815	-		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)	443					A6ZJA4	Silent	SNP	ENST00000216267.8	37	c.1329C>A	CCDS14080.1																																																																																				0.567	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		56	119	1	0	7.34454e-26	1	8.44623e-26	56	119					T	50216637	G	T	50216637	2	4	13	1	0	0	0	0	0	0	0	1	1503	1161	41	2		2	BRD1	22	50216637	Silent	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08	1	50216637	1087929	69	942	5	2								
ZXDB	158586	broad.mit.edu	37	chrX	57619818	57619818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	taggctgaaaattcacctgcGgagtcacaccggcgagagac	12	11	2	2			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chrX:57619818G>A	ENST00000374888.1	+	1	1550	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	446	Required for interaction with ZXDC. {ECO:0000250}.				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)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						ATTCACCTGCGGAGTCACACC	0.488																																						ENST00000374888.1																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(1336-1338)cGg>cAg		zinc finger, X-linked, duplicated B							63	61	62					X																	57619818		2203	4300	6503	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619818G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.1337G>A	X.37:g.57619818G>A	ENSP00000364023:p.Arg446Gln		Somatic					p.R446Q	NM_007157.3	NP_009088.1	WXS	Illumina GAIIx	Phase_I	P98169	ZXDB_HUMAN			1	1550	+			446			Required for interaction with ZXDC (By similarity).		A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.1337G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	17.27	3.346960	0.61183	.	.	ENSG00000198455	ENST00000374888	T	0.18810	2.19	3.64	2.77	0.32553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	L	0.52126	1.63	0.52501	D	0.999956	D	0.76494	0.999	D	0.80764	0.994	T	0.05632	-1.0873	10	0.87932	D	0	.	8.2851	0.31924	0.1245:0.0:0.8755:0.0	.	446	P98169	ZXDB_HUMAN	Q	446	ENSP00000364023:R446Q	ENSP00000364023:R446Q	R	+	2	0	ZXDB	57636543	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	8.599000	0.90856	0.714000	0.32081	0.483000	0.47432	CGG		0.488	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		18	47	0	0	0	1	0	18	47					A	57619818	G	A	57619818	3	1	13	1	0	0	0	0	1	0	0	0	18266	1116	39	1	1339	1	ZXDB	23	57619818	Missense_Mutation	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08		57619818	97650742	70	943										
RLIM	51132	broad.mit.edu	37	chrX	73811853	73811853	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	cctttccatatttcgatttgAgactgagccagtaggctctg	9	10	1	2			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chrX:73811853A>C	ENST00000332687.6	-	4	1515	c.1297T>G	c.(1297-1299)Tca>Gca	p.S433A	RLIM_ENST00000349225.2_Missense_Mutation_p.S433A	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	433	Ser-rich.				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						TTTCGATTTGAGACTGAGCCA	0.458																																					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.(1297-1299)Tca>Gca		ring finger protein, LIM domain interacting							84	83	83					X																	73811853		2203	4299	6502	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811853A>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1297T>G	X.37:g.73811853A>C	ENSP00000328059:p.Ser433Ala		Somatic				RLIM_ENST00000349225.2_Missense_Mutation_p.S433A	p.S433A	NM_016120.3	NP_057204.2	WXS	Illumina GAIIx	Phase_I	Q9NVW2	RNF12_HUMAN			4	1515	-			433			Ser-rich.		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1297T>G	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.806034	0.00074	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08193	3.12;3.12	5.5	0.7	0.18099	.	0.549844	0.16670	N	0.204383	T	0.04497	0.0123	N	0.17082	0.46	0.20307	N	0.999917	B	0.15141	0.012	B	0.17433	0.018	T	0.46527	-0.9185	10	0.10636	T	0.68	0.3209	9.3951	0.38397	0.4324:0.0:0.5676:0.0	.	433	Q9NVW2	RNF12_HUMAN	A	433	ENSP00000328059:S433A;ENSP00000253571:S433A	ENSP00000328059:S433A	S	-	1	0	RLIM	73728578	1.000000	0.71417	0.729000	0.30791	0.044000	0.14063	1.854000	0.39368	0.075000	0.16796	-0.183000	0.12914	TCA		0.458	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		28	12	0	0	0	1	0	28	12					C	73811853	A	C	73811853	3	2	13	1	0	0	0	0	1	0	0	0	13405	304	11	4	581	4	RLIM	23	73811853	Missense_Mutation	SNP	A	TCGA-N5-A59E-01A-11D-A28R-08	16192035	73811853	81458707	71	944										
GPR112	139378	broad.mit.edu	37	chrX	135475715	135475715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.112676056338028	8	0.811006553717732	1.58741681790684	3.29885057471264	0.342737722048067	0.0237358101135191	0.338235294117647	0	attatggtcaagttcactgtGccttttgggattttgagaat	10	5	2	1			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chrX:135475715G>A	ENST00000394143.1	+	18	8347	c.8056G>A	c.(8056-8058)Gcc>Acc	p.A2686T	GPR112_ENST00000394141.1_Missense_Mutation_p.A2481T|GPR112_ENST00000370652.1_Missense_Mutation_p.A2686T|GPR112_ENST00000287534.4_Missense_Mutation_p.A2439T|GPR112_ENST00000412101.1_Missense_Mutation_p.A2481T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2686	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)	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)					AGTTCACTGTGCCTTTTGGGA	0.358																																						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.(8056-8058)Gcc>Acc		G protein-coupled receptor 112							183	159	167					X																	135475715		2202	4298	6500	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135475715G>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.8056G>A	X.37:g.135475715G>A	ENSP00000377699:p.Ala2686Thr		Somatic				GPR112_ENST00000394141.1_Missense_Mutation_p.A2481T|GPR112_ENST00000370652.1_Missense_Mutation_p.A2686T|GPR112_ENST00000287534.4_Missense_Mutation_p.A2439T|GPR112_ENST00000412101.1_Missense_Mutation_p.A2481T	p.A2686T	NM_153834.3	NP_722576.3	WXS	Illumina GAIIx	Phase_I	Q8IZF6	GP112_HUMAN			18	8347	+	Acute lymphoblastic leukemia(192;0.000127)		2686			GPS.		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.8056G>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556710	0.65425	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	5.57	4.71	0.59529	GPS domain (3);	.	.	.	.	T	0.80215	0.4582	M	0.70787	2.145	0.23304	N	0.99794	D;P	0.67145	0.996;0.95	D;D	0.74674	0.944;0.984	T	0.71656	-0.4527	9	0.66056	D	0.02	.	13.278	0.60198	0.0792:0.0:0.9208:0.0	.	2481;2686	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	T	2686;2686;2481;2439;2481	ENSP00000377699:A2686T;ENSP00000359686:A2686T;ENSP00000416526:A2481T;ENSP00000287534:A2439T;ENSP00000377697:A2481T	ENSP00000287534:A2439T	A	+	1	0	GPR112	135303381	1.000000	0.71417	0.996000	0.52242	0.554000	0.35429	5.357000	0.66058	1.123000	0.41961	0.600000	0.82982	GCC		0.358	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			3	8	0	0	0	1	0	3	8					A	135475715	G	A	135475715	3	1	13	1	0	0	0	0	1	0	0	0	6637	1319	46	3	8114	3	GPR112	23	135475715	Missense_Mutation	SNP	G	TCGA-N5-A59E-01A-11D-A28R-08	61663862	135475715	19794845	72	945										
AGRN	375790	broad.mit.edu	37	chr1	985881	985881	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	gctctacaacgggcagaagaCggacggcaagggggacttcg	16	10	1	2			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:985881C>G	ENST00000379370.2	+	29	5101	c.5051C>G	c.(5050-5052)aCg>aGg	p.T1684R		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1684	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGGCAGAAGACGGACGGCAAG	0.692																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(5050-5052)aCg>aGg		agrin							34	41	38					1																	985881		2203	4300	6503	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:985881C>G	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.5051C>G	1.37:g.985881C>G	ENSP00000368678:p.Thr1684Arg		Somatic					p.T1684R	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)	29	5101	+	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)	1684			Laminin G-like 2.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.5051C>G	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.938880	0.52972	.	.	ENSG00000188157	ENST00000379370;ENST00000379364	T	0.75821	-0.97	4.85	4.85	0.62838	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.099482	0.41097	U	0.000953	T	0.80803	0.4693	L	0.50847	1.595	0.58432	D	0.99999	D	0.76494	0.999	D	0.70016	0.967	T	0.76732	-0.2851	10	0.19590	T	0.45	-11.4664	15.1873	0.73012	0.0:0.8588:0.1412:0.0	.	1684	O00468	AGRIN_HUMAN	R	1684;23	ENSP00000368678:T1684R	ENSP00000368671:T23R	T	+	2	0	AGRN	975744	0.997000	0.39634	0.816000	0.32577	0.009000	0.06853	3.626000	0.54245	2.250000	0.74265	0.479000	0.44913	ACG		0.692	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		11	117	0	0	0	1	0	11	117					G	985881	C	G	985881	3	3	14	1	0	0	0	0	1	0	0	0	397	536	19	5	5165	5	AGRN	1	985881	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08		985881	248264740	1	946										
CASZ1	54897	broad.mit.edu	37	chr1	10699155	10699156	+	In_Frame_Ins	INS	-	-	TCG													0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	ggtcctcgtcgtcgtcgtccINStcgtcgtcgtcctcgtcgtc							TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:10699155_10699156insTCG	ENST00000377022.3	-	21	5440_5441	c.5123_5124insCGA	c.(5122-5124)gag>gaCGAg	p.1707_1708insD	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1707	Asp-rich.|Glu-rich.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		cgtcgtcgtcctcgtcgtcgtc	0.743																																						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.(5122-5124)gga>gCGAga		castor zinc finger 1																																				SO:0001652	inframe_insertion	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10699155_10699156insTCG	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.5121_5123dupCGA	1.37:g.10699162_10699164dupTCG	ENSP00000366221:p.Asp1711_Asp1712dup		Somatic					p.1708_1708G>AR	NM_001079843.1	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)	21	5440_5441	-	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)	1708			Asp-rich.|Glu-rich.		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	In_Frame_Ins	INS	ENST00000377022.3	37	c.5123_5124insCGA	CCDS41246.1																																																																																				0.743	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		5	9						5	9	---	---	---	---	TCG	10699156	-	TCG	10699155	7	5	14	1	0	1	1	0	0	0	0	0	2687	680	24	0	159	0	CASZ1	1	10699155	In_Frame_Ins	INS	-	TCGA-N5-A59F-01A-11D-A28R-08	9713274	10699155	238551466	2	947										
PRAMEF17	391004	broad.mit.edu	37	chr1	13716936	13716936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	gtggaggactatccaaggacGggagagcaccagcccttgaa	14	10	0	2	rs374222074		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:13716936G>A	ENST00000376098.4	+	2	449	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	141					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCAAGGACGGGAGAGCACC	0.532																																						ENST00000376098.4																			0				kidney(1)|lung(2)	3						c.(421-423)acG>acA		PRAME family member 17		G		2,4322		0,2,2160	98	116	110		423	-2.2	0	1		110	0,8508		0,0,4254	no	coding-synonymous	PRAMEF17	NM_001099851.1		0,2,6414	AA,AG,GG		0.0,0.0463,0.0156		141/475	13716936	2,12830	2162	4254	6416	SO:0001819	synonymous_variant	391004							g.chr1:13716936G>A		CCDS41264.1	1p36.21	2013-01-17			ENSG00000204479	ENSG00000204479		"-"	29485	protein-coding gene	gene with protein product							Standard	NM_001099851		Approved	OTTHUMG00000007909	uc009vnz.1	Q5VTA0	OTTHUMG00000007909	ENST00000376098.4:c.423G>A	1.37:g.13716936G>A			Somatic					p.T141T	NM_001099851.1	NP_001093321.1	WXS	Illumina GAIIx	Phase_I	Q5VTA0	PRA17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	449	+	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)	141					B2RUU4	Silent	SNP	ENST00000376098.4	37	c.423G>A	CCDS41264.1																																																																																				0.532	PRAMEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021780.2	NM_001099851		8	306	0	0	0	1	0	8	306					A	13716936	G	A	13716936	2	1	14	1	0	0	0	0	0	0	0	1	12444	1103	39	1		1	PRAMEF17	1	13716936	Silent	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	3017781	13716936	235533685	3	948										
BAI2	576	broad.mit.edu	37	chr1	32221719	32221719	+	Frame_Shift_Del	DEL	C	C	-													0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	gggtgtgggcagcaggagggCctggagatgtggtggtggtg							TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:32221719delC	ENST00000373658.3	-	4	1060	c.719delG	c.(718-720)ggcfs	p.G240fs	BAI2_ENST00000398556.3_Frame_Shift_Del_p.G243fs|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000527361.1_Frame_Shift_Del_p.G240fs|BAI2_ENST00000373655.2_Frame_Shift_Del_p.G240fs|BAI2_ENST00000398538.1_Frame_Shift_Del_p.G228fs|BAI2_ENST00000398542.1_Frame_Shift_Del_p.G228fs|BAI2_ENST00000257070.4_Frame_Shift_Del_p.G240fs|BAI2_ENST00000398547.1_Frame_Shift_Del_p.G228fs	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	240					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGCAGGAGGGCCTGGAGATGT	0.701																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(718-720)gcfs		brain-specific angiogenesis inhibitor 2							37	46	43					1																	32221719		2203	4299	6502	SO:0001589	frameshift_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32221719delC	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.719delG	1.37:g.32221719delC	ENSP00000362762:p.Gly240fs		Somatic				BAI2_ENST00000527361.1_Frame_Shift_Del_p.G240fs|BAI2_ENST00000398538.1_Frame_Shift_Del_p.G228fs|BAI2_ENST00000398542.1_Frame_Shift_Del_p.G228fs|BAI2_ENST00000398547.1_Frame_Shift_Del_p.G228fs|BAI2_ENST00000373655.2_Frame_Shift_Del_p.G240fs|BAI2_ENST00000257070.4_Frame_Shift_Del_p.G240fs|BAI2_ENST00000398556.3_Frame_Shift_Del_p.G243fs	p.G240fs	NM_001703.2	NP_001694.2	WXS	Illumina GAIIx	Phase_I	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	4	1060	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	240					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Frame_Shift_Del	DEL	ENST00000373658.3	37	c.719delG	CCDS346.2																																																																																				0.701	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		26	79						26	79	---	---	---	---	-	32221719	C	-	32221719	7	5	14	1	0	1	0	1	0	0	0	0	1299	739	26	0	4158	0	BAI2	1	32221719	Frame_Shift_Del	DEL	C	TCGA-N5-A59F-01A-11D-A28R-08	18504783	32221719	217028902	4	949										
CSMD2	114784	broad.mit.edu	37	chr1	34180304	34180304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	gaaggtcaaggtgtcgcccaCgccaaactgcaagcccttcc	10	15	1	0	rs141181841		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:34180304C>T	ENST00000373381.4	-	21	3465	c.3289G>A	c.(3289-3291)Gtg>Atg	p.V1097M		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1057						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)				GTGTCGCCCACGCCAAACTGC	0.662																																						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.(3289-3291)Gtg>Atg		CUB and Sushi multiple domains 2							70	73	72					1																	34180304		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34180304C>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.3289G>A	1.37:g.34180304C>T	ENSP00000362479:p.Val1097Met		Somatic					p.V1097M	NM_052896.3	NP_443128.2	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			21	3465	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1057					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.3289G>A		.	.	.	.	.	.	.	.	.	.	C	23.8	4.461864	0.84425	.	.	ENSG00000121904	ENST00000373381	T	0.67698	-0.28	5.85	5.85	0.93711	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.83499	0.0074	10	0.59425	D	0.04	.	19.1531	0.93496	0.0:1.0:0.0:0.0	.	1057;1097	Q7Z408;E7EUA6	CSMD2_HUMAN;.	M	1097	ENSP00000362479:V1097M	ENSP00000241312:V1057M	V	-	1	0	CSMD2	33952891	1.000000	0.71417	0.993000	0.49108	0.452000	0.32318	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	GTG		0.662	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		139	67	0	0	0	1	0	139	67					T	34180304	C	T	34180304	3	4	14	1	0	0	0	0	1	0	0	0	3947	536	19	1	7490	1	CSMD2	1	34180304	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08	1958585	34180304	215070317	5	950										
LHX8	431707	broad.mit.edu	37	chr1	75608914	75608914	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	tgctttgcctgcttttcctgCaaaaggcaactttccacagg	8	12	0	0			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:75608914C>A	ENST00000294638.5	+	6	1165	c.501C>A	c.(499-501)tgC>tgA	p.C167*	LHX8_ENST00000356261.3_Nonsense_Mutation_p.C157*	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	167	LIM zinc-binding 2. {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						GCTTTTCCTGCAAAAGGCAAC	0.478																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(499-501)tgC>tgA		LIM homeobox 8							104	99	101					1																	75608914		2203	4299	6502	SO:0001587	stop_gained	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75608914C>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.501C>A	1.37:g.75608914C>A	ENSP00000294638:p.Cys167*		Somatic				LHX8_ENST00000356261.3_Nonsense_Mutation_p.C157*	p.C167*	NM_001001933.1	NP_001001933.1	WXS	Illumina GAIIx	Phase_I	Q68G74	LHX8_HUMAN			6	1165	+			167			LIM zinc-binding 2.		E9PGE3	Nonsense_Mutation	SNP	ENST00000294638.5	37	c.501C>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	C	36	5.812632	0.96975	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	.	.	.	5.3	4.38	0.52667	.	0.084446	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1202	0.65182	0.0:0.9273:0.0:0.0727	.	.	.	.	X	167;157	.	ENSP00000294638:C167X	C	+	3	2	LHX8	75381502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.099000	0.50267	1.375000	0.46248	0.650000	0.86243	TGC		0.478	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		4	89	1	0	0.00024832	1	0.000260258	4	89					A	75608914	C	A	75608914	4	1	14	1	0	0	0	0	0	1	0	0	8785	718	25	5	519	5	LHX8	1	75608914	Nonsense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08	41428610	75608914	173641707	6	951										
AMY2B	280	broad.mit.edu	37	chr1	104122106	104122106	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	tccatttattgcaattcatgCtgaatctaaattataaaatt	3	6	2	1			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:104122106C>A	ENST00000361355.4	+	12	2136	c.1520C>A	c.(1519-1521)gCt>gAt	p.A507D	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	507					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)		GCAATTCATGCTGAATCtaaa	0.294																																						ENST00000361355.4																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(1519-1521)gCt>gAt		amylase, alpha 2B (pancreatic)							117	125	122					1																	104122106		2203	4300	6503	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104122106C>A	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1520C>A	1.37:g.104122106C>A	ENSP00000354610:p.Ala507Asp		Somatic				AMY2B_ENST00000491397.1_3'UTR	p.A507D	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)	12	2136	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	507					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.1520C>A	CCDS782.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235106	0.39498	.	.	ENSG00000240038	ENST00000361355	.	.	.	4.14	-2.73	0.05950	Alpha-amylase, C-terminal all beta (1);Glycosyl hydrolase, family 13, all-beta (1);	0.529823	0.19571	N	0.111086	T	0.35068	0.0919	M	0.83953	2.67	0.31360	N	0.681459	B	0.31040	0.305	B	0.31442	0.13	T	0.42361	-0.9456	9	0.87932	D	0	.	10.6051	0.45390	0.0:0.4439:0.0:0.5561	.	507	P19961	AMY2B_HUMAN	D	507	.	ENSP00000354610:A507D	A	+	2	0	AMY2B	103923629	0.012000	0.17670	0.204000	0.23530	0.897000	0.52465	0.038000	0.13862	-0.360000	0.08138	-0.324000	0.08512	GCT		0.294	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		27	310	1	0	6.32553e-13	1	7.25771e-13	27	310					A	104122106	C	A	104122106	3	1	14	1	0	0	0	0	1	0	0	0	595	797	28	5	1558	5	AMY2B	1	104122106	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08	28513192	104122106	145128515	7	952										
INSRR	3645	broad.mit.edu	37	chr1	156815523	156815523	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	aggtgggtgctggcaagggcAgcagtcggactccatctcgg	17	10	1	0			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:156815523A>G	ENST00000368195.3	-	10	2458	c.2062T>C	c.(2062-2064)Tgc>Cgc	p.C688R	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	688	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)					TGGCAAGGGCAGCAGTCGGAC	0.632																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2062-2064)Tgc>Cgc		insulin receptor-related receptor							49	45	47					1																	156815523		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.chr1:156815523A>G	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2062T>C	1.37:g.156815523A>G	ENSP00000357178:p.Cys688Arg		Somatic				NTRK1_ENST00000392302.2_Intron	p.C688R	NM_014215.2	NP_055030.1	WXS	Illumina GAIIx	Phase_I	P14616	INSRR_HUMAN			10	2458	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		688					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.2062T>C	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691757	0.48097	.	.	ENSG00000027644	ENST00000368195	T	0.81247	-1.47	4.58	4.58	0.56647	Fibronectin, type III (2);	0.000000	0.52532	D	0.000065	D	0.86843	0.6030	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.88807	0.3289	9	0.87932	D	0	.	12.2138	0.54394	1.0:0.0:0.0:0.0	.	688	P14616	INSRR_HUMAN	R	688	ENSP00000357178:C688R	ENSP00000357178:C688R	C	-	1	0	INSRR	155082147	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	7.854000	0.86942	2.049000	0.60858	0.459000	0.35465	TGC		0.632	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		20	76	0	0	0	1	0	20	76					G	156815523	A	G	156815523	3	3	14	1	0	0	0	0	1	0	0	0	7783	188	7	4	1882	4	INSRR	1	156815523	Missense_Mutation	SNP	A	TCGA-N5-A59F-01A-11D-A28R-08	52693417	156815523	92435098	8	953										
FCRL2	79368	broad.mit.edu	37	chr1	157739929	157739929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	gctggcagtcagcacaggacGttgaaagagctctagagaga	14	8	2	4	rs139872242		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:157739929G>A	ENST00000361516.3	-	4	370	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	FCRL2_ENST00000392274.3_Missense_Mutation_p.R108C|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_5'Flank	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	108					cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGCACAGGACGTTGAAAGAGC	0.527																																						ENST00000361516.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(322-324)Cgt>Tgt		Fc receptor-like 2		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	41	42	41		322	-8.2	0	1	dbSNP_134	41	0,8600		0,0,4300	no	missense	FCRL2	NM_030764.3	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	108/509	157739929	2,13004	2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157739929G>A	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.322C>T	1.37:g.157739929G>A	ENSP00000355157:p.Arg108Cys		Somatic				FCRL2_ENST00000392274.3_Missense_Mutation_p.R108C|FCRL2_ENST00000368181.4_Intron	p.R108C	NM_030764.3	NP_110391.2	WXS	Illumina GAIIx	Phase_I	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	370	-	all_hematologic(112;0.0378)		108					A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.322C>T	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.543164	0.45280	4.54E-4	0.0	ENSG00000132704	ENST00000361516;ENST00000392274	T;T	0.03441	3.93;3.93	4.09	-8.17	0.01057	.	2.705170	0.01778	N	0.031574	T	0.02571	0.0078	M	0.69823	2.125	0.09310	N	1	D;B;B	0.64830	0.994;0.074;0.073	P;B;B	0.55011	0.766;0.037;0.098	T	0.42916	-0.9423	10	0.52906	T	0.07	.	0.5204	0.00611	0.195:0.2178:0.2625:0.3246	.	108;108;108	B4E0W2;B4DVJ9;Q96LA5	.;.;FCRL2_HUMAN	C	108	ENSP00000355157:R108C;ENSP00000376100:R108C	ENSP00000355157:R108C	R	-	1	0	FCRL2	156006553	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-2.271000	0.01166	-2.282000	0.00673	0.591000	0.81541	CGT		0.527	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		38	30	0	0	0	1	0	38	30					A	157739929	G	A	157739929	3	1	14	1	0	0	0	0	1	0	0	0	5803	1145	40	1	1240	1	FCRL2	1	157739929	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	924406	157739929	91510692	9	954										
ASPM	259266	broad.mit.edu	37	chr1	197060125	197060125	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	caatctttttgatgctatgaTatttctgaataaatctcttt	4	6	3	3			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:197060125T>A	ENST00000367409.4	-	23	9747	c.9491A>T	c.(9490-9492)tAt>tTt	p.Y3164F	ASPM_ENST00000367408.1_Missense_Mutation_p.Y829F|ASPM_ENST00000294732.7_Missense_Mutation_p.Y1579F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3164					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						GATGCTATGATATTTCTGAAT	0.343																																						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.(9490-9492)tAt>tTt		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							93	91	92					1																	197060125		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197060125T>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.9491A>T	1.37:g.197060125T>A	ENSP00000356379:p.Tyr3164Phe		Somatic				ASPM_ENST00000294732.7_Missense_Mutation_p.Y1579F|ASPM_ENST00000367408.1_Missense_Mutation_p.Y829F	p.Y3164F	NM_018136.4	NP_060606.3	WXS	Illumina GAIIx	Phase_I	Q8IZT6	ASPM_HUMAN			23	9747	-			3164					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.9491A>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.310459	0.23821	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.58210	0.35;1.62;1.31	4.62	-3.21	0.05140	.	0.728207	0.12949	N	0.425933	T	0.37544	0.1007	L	0.53249	1.67	0.09310	N	1	B;B;P	0.34562	0.072;0.072;0.457	B;B;B	0.33846	0.059;0.059;0.171	T	0.35201	-0.9798	10	0.12430	T	0.62	.	7.2597	0.26197	0.0:0.4868:0.1376:0.3756	.	1150;1579;3164	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	F	3164;1579;829;1150	ENSP00000356379:Y3164F;ENSP00000294732:Y1579F;ENSP00000356378:Y829F	ENSP00000294732:Y1579F	Y	-	2	0	ASPM	195326748	0.000000	0.05858	0.000000	0.03702	0.351000	0.29236	-1.418000	0.02462	-0.390000	0.07774	-0.589000	0.04120	TAT		0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		6	44	0	0	0	1	0	6	44					A	197060125	T	A	197060125	3	1	14	1	0	0	0	0	1	0	0	0	1056	1406	49	4	966	4	ASPM	1	197060125	Missense_Mutation	SNP	T	TCGA-N5-A59F-01A-11D-A28R-08	39320196	197060125	52190496	10	955										
OR2T27	403239	broad.mit.edu	37	chr1	248813672	248813672	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	gaagaagtggttgatctcccGagaggcacagaaggggaact	15	7	1	4			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:248813672G>C	ENST00000344889.3	-	1	513	c.514C>G	c.(514-516)Cgg>Ggg	p.R172G		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	172						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)			TTGATCTCCCGAGAGGCACAG	0.557																																						ENST00000344889.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(514-516)Cgg>Ggg		olfactory receptor, family 2, subfamily T, member 27							17	7	11					1																	248813672		2123	3806	5929	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813672G>C		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.514C>G	1.37:g.248813672G>C	ENSP00000342008:p.Arg172Gly		Somatic					p.R172G	NM_001001824.1	NP_001001824.1	WXS	Illumina GAIIx	Phase_I	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	513	-	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)	172						Missense_Mutation	SNP	ENST00000344889.3	37	c.514C>G	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	6.969	0.548776	0.13312	.	.	ENSG00000187701	ENST00000344889	T	0.00115	8.71	3.3	-0.117	0.13551	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37437	N	0.002087	T	0.00178	0.0005	M	0.74881	2.28	0.09310	N	1	B	0.26363	0.147	B	0.33690	0.168	T	0.46721	-0.9171	10	0.72032	D	0.01	.	1.6089	0.02689	0.1162:0.1756:0.3503:0.3579	.	172	Q8NH04	O2T27_HUMAN	G	172	ENSP00000342008:R172G	ENSP00000342008:R172G	R	-	1	2	OR2T27	246880295	0.000000	0.05858	0.013000	0.15412	0.103000	0.19146	0.041000	0.13927	0.221000	0.20879	0.194000	0.17425	CGG		0.557	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		15	127	0	0	0	1	0	15	127					C	248813672	G	C	248813672	3	2	14	1	0	0	0	0	1	0	0	0	11030	1057	37	2	442	2	OR2T27	1	248813672	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	51753547	248813672	436949	11	956										
ASAP2	8853	broad.mit.edu	37	chr2	9519169	9519169	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	ctcaagttgctcctgcggggGaaggcctccatcgagatagg	14	11	1	1	rs35776705		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr2:9519169G>C	ENST00000281419.3	+	19	2269	c.1929G>C	c.(1927-1929)ggG>ggC	p.G643G	ASAP2_ENST00000315273.4_Silent_p.G643G	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	643					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						TCCTGCGGGGGAAGGCCTCCA	0.642																																						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.(1927-1929)ggG>ggC		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							46	42	44					2																	9519169		2203	4300	6503	SO:0001819	synonymous_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9519169G>C	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1929G>C	2.37:g.9519169G>C			Somatic				ASAP2_ENST00000315273.4_Silent_p.G643G	p.G643G	NM_003887.2	NP_003878.1	WXS	Illumina GAIIx	Phase_I	O43150	ASAP2_HUMAN			19	2269	+			643					D6W4Y8	Silent	SNP	ENST00000281419.3	37	c.1929G>C	CCDS1661.1																																																																																				0.642	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		8	33	0	0	0	1	0	8	33					C	9519169	G	C	9519169	2	2	14	1	0	0	0	0	0	0	0	1	1011	1161	41	2		2	ASAP2	2	9519169	Silent	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08		9519169	233680204	12	957										
RIF1	55183	broad.mit.edu	37	chr2	152311546	152311546	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	aagcacattctgataccctcTtcactattggcaactcaatc	4	13	4	1			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr2:152311546T>C	ENST00000243326.5	+	21	2965	c.2482T>C	c.(2482-2484)Ttc>Ctc	p.F828L	RIF1_ENST00000444746.2_Missense_Mutation_p.F828L|RIF1_ENST00000453091.2_Missense_Mutation_p.F828L|RIF1_ENST00000430328.2_Missense_Mutation_p.F828L|RIF1_ENST00000428287.2_Missense_Mutation_p.F828L			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)		TGATACCCTCTTCACTATTGG	0.383																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(2482-2484)Ttc>Ctc		RAP1 interacting factor homolog (yeast)							150	149	149					2																	152311546		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152311546T>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.2482T>C	2.37:g.152311546T>C	ENSP00000243326:p.Phe828Leu		Somatic				RIF1_ENST00000444746.2_Missense_Mutation_p.F828L|RIF1_ENST00000453091.2_Missense_Mutation_p.F828L|RIF1_ENST00000428287.2_Missense_Mutation_p.F828L|RIF1_ENST00000430328.2_Missense_Mutation_p.F828L	p.F828L			WXS	Illumina GAIIx	Phase_I	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	21	2965	+			828					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.2482T>C	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.455|3.455	-0.111127|-0.111127	0.06881|0.06881	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	T;T;T;T;T|T	0.64618|0.52983	-0.11;-0.11;-0.11;-0.11;-0.11|0.64	5.55|5.55	4.65|4.65	0.58169|0.58169	.|.	0.616256|.	0.16641|.	N|.	0.205655|.	T|T	0.11922|0.11922	0.0290|0.0290	N|N	0.00170|0.00170	-1.935|-1.935	0.19575|0.19575	N|N	0.999966|0.999966	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.04551|0.04551	-1.0943|-1.0943	10|7	0.02654|0.72032	T|D	1|0.01	-3.0931|-3.0931	3.5063|3.5063	0.07692|0.07692	0.1507:0.5335:0.2175:0.0983|0.1507:0.5335:0.2175:0.0983	.|.	828;828|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	L|P	828|819	ENSP00000390181:F828L;ENSP00000414615:F828L;ENSP00000415691:F828L;ENSP00000243326:F828L;ENSP00000416123:F828L|ENSP00000390486:L819P	ENSP00000243326:F828L|ENSP00000390486:L819P	F|L	+|+	1|2	0|0	RIF1|RIF1	152019792|152019792	0.000000|0.000000	0.05858|0.05858	0.831000|0.831000	0.32960|0.32960	0.976000|0.976000	0.68499|0.68499	0.353000|0.353000	0.20130|0.20130	1.264000|1.264000	0.44198|0.44198	0.533000|0.533000	0.62120|0.62120	TTC|CTT		0.383	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			59	97	0	0	0	1	0	59	97					C	152311546	T	C	152311546	3	2	14	1	0	0	0	0	1	0	0	0	13374	1609	56	4	2564	4	RIF1	2	152311546	Missense_Mutation	SNP	T	TCGA-N5-A59F-01A-11D-A28R-08	142792377	152311546	90887827	13	958										
TTN	7273	broad.mit.edu	37	chr2	179569235	179569235	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	tcataagccttttctaacttAccaattacagttagtttagc	4	9	2	0			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr2:179569235A>G	ENST00000591111.1	-	103	29236		c.e103+1		TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Splice_Site|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTAACTTACCAATTACAG	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.e105+1		titin							86	81	82					2																	179569235		1892	4118	6010	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179569235A>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.29011+1T>C	2.37:g.179569235A>G			Somatic				TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|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)		105	30187	-								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	23.8	4.463832	0.84425	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179277480	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	.		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	30	39	0	0	0	1	0	30	39					G	179569235	A	G	179569235	5	3	14	1	0	0	0	0	0	0	1	0	16750	405	14	4	74597	4	TTN	2	179569235	Splice_Site	SNP	A	TCGA-N5-A59F-01A-11D-A28R-08	27257689	179569235	63630138	14	959										
FARP2	9855	broad.mit.edu	37	chr2	242371190	242371193	+	Splice_Site	DEL	GTAA	GTAA	-													0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	aacttcatccagaggttcatGtaagtattattttcaacttt							TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr2:242371190_242371193delGTAA	ENST00000264042.3	+	9	1037		c.e9+1		FARP2_ENST00000373287.4_Splice_Site|FARP2_ENST00000545004.1_Splice_Site	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2						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)		AGAGGTTCATGTAAGTATTATTTT	0.333																																						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.e9+1		FERM, RhoGEF and pleckstrin domain protein 2																																				SO:0001630	splice_region_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242371190_242371193delGTAA	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.867+1GTAA>-	2.37:g.242371190_242371193delGTAA			Somatic				FARP2_ENST00000373287.4_Splice_Site|FARP2_ENST00000545004.1_Splice_Site		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)	9	1037	+		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)						B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Splice_Site	DEL	ENST00000264042.3	37		CCDS33424.1																																																																																				0.333	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1		Intron	7	44						7	44	---	---	---	---	-	242371193	GTAA	-	242371190	8	5	14	1	0	1	0	1	0	0	1	0	5685	1391	48	0	898	0	FARP2	2	242371190	Splice_Site	DEL	GTAA	TCGA-N5-A59F-01A-11D-A28R-08	62801955	242371190	828183	15	960										
FANCD2	2177	broad.mit.edu	37	chr3	10142903	10142903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	agacgaagtaagtgctggagAaaaggagcaagatagtgatg	15	3	0	4			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr3:10142903A>G	ENST00000419585.1	+	44	4474	c.4313A>G	c.(4312-4314)gAa>gGa	p.E1438G	FANCD2_ENST00000383807.1_Missense_Mutation_p.E1438G|FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000524279.1_Intron			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1438					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)		AGTGCTGGAGAAAAGGAGCAA	0.428			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000419585.1			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.(4312-4314)gAa>gGa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							211	191	198					3																	10142903		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10142903A>G	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.4313A>G	3.37:g.10142903A>G	ENSP00000398754:p.Glu1438Gly		Somatic				FANCD2_ENST00000383807.1_Missense_Mutation_p.E1438G|FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000524279.1_Intron	p.E1438G			WXS	Illumina GAIIx	Phase_I	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	44	4474	+			0					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.4313A>G	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.254254	0.22965	.	.	ENSG00000144554	ENST00000383807;ENST00000419585	T;T	0.51817	0.69;0.69	4.43	2.08	0.27032	.	.	.	.	.	T	0.33147	0.0853	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.15752	-1.0426	8	0.46703	T	0.11	.	5.2544	0.15539	0.7608:0.0:0.2392:0.0	.	1438	Q9BXW9-2	.	G	1438	ENSP00000373318:E1438G;ENSP00000398754:E1438G	ENSP00000373318:E1438G	E	+	2	0	FANCD2	10117903	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	1.316000	0.33620	0.834000	0.34852	0.529000	0.55759	GAA		0.428	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			9	75	0	0	0	1	0	9	75					G	10142903	A	G	10142903	3	3	14	1	0	0	0	0	1	0	0	0	5673	246	9	4	4618	4	FANCD2	3	10142903	Missense_Mutation	SNP	A	TCGA-N5-A59F-01A-11D-A28R-08		10142903	187879527	16	961										
HIGD1A	25994	broad.mit.edu	37	chr3	42827564	42827564	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	agccttgggctgccacacgcAtgtggatcagatgaatggac	13	10	1	2			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr3:42827564A>G	ENST00000321331.7	-	3	305	c.188T>C	c.(187-189)aTg>aCg	p.M63T	HIGD1A_ENST00000470543.1_5'UTR|HIGD1A_ENST00000418900.2_Missense_Mutation_p.M63T|HIGD1A_ENST00000452906.2_Missense_Mutation_p.M77T|HIGD1A_ENST00000430190.1_Missense_Mutation_p.M63T	NM_001099669.1|NM_014056.3	NP_001093139.1|NP_054775.2	Q9Y241	HIG1A_HUMAN	HIG1 hypoxia inducible domain family, member 1A	63	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.				cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|protein complex (GO:0043234)|respiratory chain (GO:0070469)				lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TGCCACACGCATGTGGATCAG	0.383																																						ENST00000321331.7																			0				lung(1)	1						c.(187-189)aTg>aCg		HIG1 hypoxia inducible domain family, member 1A							81	73	75					3																	42827564		1842	4096	5938	SO:0001583	missense	25994				response to stress	integral to membrane|protein complex	protein binding	g.chr3:42827564A>G	BC009583	CCDS43073.1, CCDS46806.1	3p22.1	2014-02-12	2009-03-17		ENSG00000181061	ENSG00000181061			29527	protein-coding gene	gene with protein product	"hypoxia inducible gene 1"		"HIG1 domain family, member 1A"			11042152, 11230166	Standard	NM_001099668		Approved	HIG1, DKFZP564K247	uc010hid.3	Q9Y241	OTTHUMG00000156277	ENST00000321331.7:c.188T>C	3.37:g.42827564A>G	ENSP00000319393:p.Met63Thr		Somatic				HIGD1A_ENST00000430190.1_Missense_Mutation_p.M63T|HIGD1A_ENST00000470543.1_5'UTR|HIGD1A_ENST00000418900.2_Missense_Mutation_p.M63T|HIGD1A_ENST00000452906.2_Missense_Mutation_p.M77T	p.M63T	NM_001099669.1|NM_014056.3	NP_001093139.1|NP_054775.2	WXS	Illumina GAIIx	Phase_I	Q9Y241	HIG1A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	3	305	-			63			HIG1.		Q9UFZ2	Missense_Mutation	SNP	ENST00000321331.7	37	c.188T>C	CCDS43073.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.736042	0.49045	.	.	ENSG00000181061	ENST00000321331;ENST00000418900;ENST00000430190;ENST00000452906	T;T;T	0.29397	1.6;1.6;1.57	4.73	4.73	0.59995	Hypoxia induced protein, domain (2);	0.033708	0.85682	N	0.000000	T	0.33789	0.0875	.	.	.	0.80722	D	1	D;P	0.53312	0.959;0.833	P;P	0.54346	0.749;0.734	T	0.04090	-1.0978	9	0.09843	T	0.71	-0.2788	12.4699	0.55781	1.0:0.0:0.0:0.0	.	77;63	Q9Y241-2;Q9Y241	.;HIG1A_HUMAN	T	63;63;63;77	ENSP00000319393:M63T;ENSP00000402160:M63T;ENSP00000398064:M77T	ENSP00000319393:M63T	M	-	2	0	HIGD1A	42802568	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.774000	0.75012	2.110000	0.64415	0.482000	0.46254	ATG		0.383	HIGD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343686.1	NM_014056		25	35	0	0	0	1	0	25	35					G	42827564	A	G	42827564	3	3	14	1	0	0	0	0	1	0	0	0	7115	217	8	4	101	4	HIGD1A	3	42827564	Missense_Mutation	SNP	A	TCGA-N5-A59F-01A-11D-A28R-08	32684661	42827564	155194866	17	962										
PIGG	54872	broad.mit.edu	37	chr4	517577	517577	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	acctccgaagtgctcagaggCcgcgagaagtggatggtgct	15	10	1	2			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr4:517577C>A	ENST00000453061.2	+	9	2050	c.1944C>A	c.(1942-1944)ggC>ggA	p.G648G	PIGG_ENST00000383028.4_Silent_p.G515G|PIGG_ENST00000310340.5_Silent_p.G640G|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_Silent_p.G559G	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	648					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TGCTCAGAGGCCGCGAGAAGT	0.652																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(1942-1944)ggC>ggA		phosphatidylinositol glycan anchor biosynthesis, class G							36	34	35					4																	517577		2203	4299	6502	SO:0001819	synonymous_variant	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:517577C>A		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"Phosphatidylinositol glycan anchor biosynthesis"	25985	protein-coding gene	gene with protein product			"phosphatidylinositol glycan, class G"			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1944C>A	4.37:g.517577C>A			Somatic				PIGG_ENST00000310340.5_Silent_p.G640G|PIGG_ENST00000504346.1_Silent_p.G559G|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Silent_p.G515G	p.G648G	NM_001127178.1	NP_001120650.1	WXS	Illumina GAIIx	Phase_I	Q5H8A4	PIGG_HUMAN			9	2050	+			648					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Silent	SNP	ENST00000453061.2	37	c.1944C>A	CCDS46992.1																																																																																				0.652	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		22	32	1	0	3.5997e-14	1	4.17412e-14	22	32					A	517577	C	A	517577	2	1	14	1	0	0	0	0	0	0	0	1	11897	726	26	5		5	PIGG	4	517577	Silent	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08		517577	190636699	18	963										
FBXW7	55294	broad.mit.edu	37	chr4	153244092	153244092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	ggtttcttcagtcccattccGactcccaactgcacacacca	5	17	2	0			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr4:153244092G>A	ENST00000281708.4	-	12	3294	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W	FBXW7_ENST00000263981.5_Missense_Mutation_p.R609W|FBXW7_ENST00000603548.1_Missense_Mutation_p.R689W|FBXW7_ENST00000603841.1_Missense_Mutation_p.R689W|FBXW7_ENST00000296555.5_Missense_Mutation_p.R571W|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000393956.3_Missense_Mutation_p.R513W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	689					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R689W(10)|p.R450W(3)|p.R609W(3)|p.R571W(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTCCCATTCCGACTCCCAACT	0.478			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		18	Substitution - Missense(17)|Unknown(1)	p.R689W(10)|p.R450W(3)|p.R609W(3)|p.R571W(1)|p.?(1)	large_intestine(11)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(2065-2067)Cgg>Tgg		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							172	167	168					4																	153244092		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153244092G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.2065C>T	4.37:g.153244092G>A	ENSP00000281708:p.Arg689Trp		Somatic				FBXW7_ENST00000603548.1_Missense_Mutation_p.R689W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R513W|FBXW7_ENST00000296555.5_Missense_Mutation_p.R571W|FBXW7_ENST00000263981.5_Missense_Mutation_p.R609W|FBXW7_ENST00000603841.1_Missense_Mutation_p.R689W	p.R689W	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			12	3294	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	689					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.2065C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475565	0.26511	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.82923	2.615	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	0.53892	-0.8374	10	0.87932	D	0	-15.04	14.5904	0.68359	0.0:0.0:0.854:0.146	.	513;689;571;609	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	W	689;571;609;513	ENSP00000281708:R689W;ENSP00000296555:R571W;ENSP00000263981:R609W;ENSP00000377528:R513W	ENSP00000263981:R609W	R	-	1	2	FBXW7	153463542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.906000	0.56340	2.681000	0.91329	0.655000	0.94253	CGG		0.478	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			53	91	0	0	0	1	0	53	91					A	153244092	G	A	153244092	3	1	14	1	0	0	0	0	1	0	0	0	5777	1057	37	1	62	1	FBXW7	4	153244092	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	152726515	153244092	37910184	19	964										
FBXW7	55294	broad.mit.edu	37	chr4	153245518	153245518	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	cacggattgatgtatcaagaGatccactcaccacatggata	8	10	2	2			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr4:153245518G>A	ENST00000281708.4	-	11	2902	c.1673C>T	c.(1672-1674)tCt>tTt	p.S558F	FBXW7_ENST00000263981.5_Missense_Mutation_p.S478F|FBXW7_ENST00000603548.1_Missense_Mutation_p.S558F|FBXW7_ENST00000603841.1_Missense_Mutation_p.S558F|FBXW7_ENST00000296555.5_Missense_Mutation_p.S440F|FBXW7_ENST00000393956.3_Missense_Mutation_p.S382F	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	558					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGTATCAAGAGATCCACTCAC	0.403			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1672-1674)tCt>tTt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							115	87	96					4																	153245518		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153245518G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1673C>T	4.37:g.153245518G>A	ENSP00000281708:p.Ser558Phe		Somatic				FBXW7_ENST00000603548.1_Missense_Mutation_p.S558F|FBXW7_ENST00000393956.3_Missense_Mutation_p.S382F|FBXW7_ENST00000296555.5_Missense_Mutation_p.S440F|FBXW7_ENST00000263981.5_Missense_Mutation_p.S478F|FBXW7_ENST00000603841.1_Missense_Mutation_p.S558F	p.S558F	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			11	2902	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	558					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1673C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907349	0.92107	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.61	5.61	0.85477	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	0.90662	0.7071	H	0.94658	3.565	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	0.92754	0.6218	10	0.87932	D	0	-11.34	19.6375	0.95740	0.0:0.0:1.0:0.0	.	382;558;440;478	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	F	558;440;478;382	ENSP00000281708:S558F;ENSP00000296555:S440F;ENSP00000263981:S478F;ENSP00000377528:S382F	ENSP00000263981:S478F	S	-	2	0	FBXW7	153464968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.640000	0.89533	0.655000	0.94253	TCT		0.403	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			7	11	0	0	0	1	0	7	11					A	153245518	G	A	153245518	3	1	14	1	0	0	0	0	1	0	0	0	5777	942	33	3	458	3	FBXW7	4	153245518	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	1426	153245518	37908758	20	965										
ADAMTS16	170690	broad.mit.edu	37	chr5	5262848	5262848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	cttctgcaatcccaagacacGacctgtcacggggctggtgc	11	14	2	1			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:5262848G>A	ENST00000274181.7	+	18	2879	c.2741G>A	c.(2740-2742)cGa>cAa	p.R914Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	914	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCCAAGACACGACCTGTCACG	0.512																																						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.(2740-2742)cGa>cAa		ADAM metallopeptidase with thrombospondin type 1 motif, 16							96	101	99					5																	5262848		2001	4160	6161	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5262848G>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.2741G>A	5.37:g.5262848G>A	ENSP00000274181:p.Arg914Gln		Somatic					p.R914Q	NM_139056.2	NP_620687.2	WXS	Illumina GAIIx	Phase_I	Q8TE57	ATS16_HUMAN			18	2879	+			914			TSP type-1 2.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2741G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088601	0.55968	.	.	ENSG00000145536	ENST00000274181	T	0.62498	0.02	5.09	5.09	0.68999	.	0.072733	0.53938	D	0.000047	T	0.61974	0.2390	M	0.77820	2.39	0.58432	D	0.999999	B;B	0.31503	0.277;0.326	B;B	0.24394	0.03;0.053	T	0.63251	-0.6679	10	0.34782	T	0.22	.	15.988	0.80176	0.0:0.0:1.0:0.0	.	914;914	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	Q	914	ENSP00000274181:R914Q	ENSP00000274181:R914Q	R	+	2	0	ADAMTS16	5315848	1.000000	0.71417	0.122000	0.21767	0.565000	0.35776	4.585000	0.60977	2.370000	0.80446	0.561000	0.74099	CGA		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		65	82	0	0	0	1	0	65	82					A	5262848	G	A	5262848	3	1	14	1	0	0	0	0	1	0	0	0	261	1058	37	1	2811	1	ADAMTS16	5	5262848	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08		5262848	175652412	21	966										
C5orf42	65250	broad.mit.edu	37	chr5	37169474	37169474	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	gccatcaccaggactaaatgTttttgcatgtgggataagtc	10	8	1	0			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:37169474T>C	ENST00000508244.1	-	33	6745	c.6652A>G	c.(6652-6654)Aca>Gca	p.T2218A	C5orf42_ENST00000425232.2_Missense_Mutation_p.T2218A|C5orf42_ENST00000274258.7_Missense_Mutation_p.T1098A			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2218						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GGACTAAATGTTTTTGCATGT	0.418																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(3292-3294)Aca>Gca		chromosome 5 open reading frame 42							67	71	70					5																	37169474		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37169474T>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6652A>G	5.37:g.37169474T>C	ENSP00000421690:p.Thr2218Ala		Somatic				C5orf42_ENST00000425232.2_Missense_Mutation_p.T2218A|C5orf42_ENST00000508244.1_Missense_Mutation_p.T2218A	p.T1098A			WXS	Illumina GAIIx	Phase_I	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		34	6879	-	all_lung(31;0.000616)		2218					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.3292A>G	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	8.657	0.899670	0.17686	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.20738	2.05;2.05;2.06;2.05	5.53	-5.81	0.02340	.	0.823560	0.10804	N	0.632400	T	0.07908	0.0198	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.14438	0.002;0.01	B;B	0.14578	0.006;0.011	T	0.43829	-0.9367	10	0.06365	T	0.9	.	0.0896	0.00038	0.3264:0.208:0.2226:0.243	.	2218;1098	E9PH94;Q9H799	.;CE042_HUMAN	A	2218;2218;1098;1266;1098	ENSP00000421690:T2218A;ENSP00000389014:T2218A;ENSP00000274258:T1098A;ENSP00000424223:T1266A	ENSP00000274258:T1098A	T	-	1	0	C5orf42	37205231	0.002000	0.14202	0.001000	0.08648	0.755000	0.42902	-0.696000	0.05104	-0.892000	0.03935	0.533000	0.62120	ACA		0.418	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		5	99	0	0	0	1	0	5	99					C	37169474	T	C	37169474	3	2	14	1	0	0	0	0	1	0	0	0	2303	1725	60	4	3017	4	C5orf42	5	37169474	Missense_Mutation	SNP	T	TCGA-N5-A59F-01A-11D-A28R-08	31906626	37169474	143745786	22	967										
EGFLAM	133584	broad.mit.edu	37	chr5	38406264	38406264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	aagtggccgctatggaccccGttatatcaccgacatgggag	12	11	1	0			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:38406264G>A	ENST00000354891.3	+	7	1095	c.749G>A	c.(748-750)cGt>cAt	p.R250H	EGFLAM_ENST00000397202.2_Intron|EGFLAM-AS2_ENST00000514377.1_RNA|EGFLAM_ENST00000322350.5_Missense_Mutation_p.R250H|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R16H|EGFLAM-AS2_ENST00000512603.1_RNA	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	250					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)					TATGGACCCCGTTATATCACC	0.483																																					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.(748-750)cGt>cAt		EGF-like, fibronectin type III and laminin G domains							110	108	108					5																	38406264		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38406264G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.749G>A	5.37:g.38406264G>A	ENSP00000346964:p.Arg250His		Somatic				EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R16H|EGFLAM_ENST00000354891.3_Missense_Mutation_p.R250H	p.R250H	NM_152403.3	NP_689616.2	WXS	Illumina GAIIx	Phase_I	Q63HQ2	EGFLA_HUMAN			7	1095	+	all_lung(31;0.000385)		250					A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.749G>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288515	0.23478	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.79554	0.78;0.61;-1.28	5.17	-8.47	0.00939	.	1.174740	0.06077	N	0.661218	T	0.57227	0.2039	N	0.03177	-0.4	0.09310	N	1	B;B;B	0.10296	0.0;0.002;0.003	B;B;B	0.06405	0.001;0.001;0.002	T	0.52653	-0.8547	10	0.13853	T	0.58	-18.3322	17.0257	0.86446	0.3416:0.0:0.6584:0.0	.	16;250;250	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	H	250;250;16;16	ENSP00000346964:R250H;ENSP00000313084:R250H;ENSP00000337607:R16H	ENSP00000313084:R250H	R	+	2	0	EGFLAM	38442021	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-0.637000	0.05459	-1.479000	0.01867	-1.744000	0.00683	CGT		0.483	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		33	55	0	0	0	1	0	33	55					A	38406264	G	A	38406264	3	1	14	1	0	0	0	0	1	0	0	0	4968	1145	40	1	789	1	EGFLAM	5	38406264	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	1236790	38406264	142508996	23	968										
PCDHB10	56126	broad.mit.edu	37	chr5	140572948	140572948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	atgtagactctggagtcaacGcggaagtatcctattcattt	9	8	3	1			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:140572948G>A	ENST00000239446.4	+	1	1007	c.823G>A	c.(823-825)Gcg>Acg	p.A275T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	275	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)			TGGAGTCAACGCGGAAGTATC	0.428																																						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.(823-825)Gcg>Acg									83	87	86					5																	140572948		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572948G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.823G>A	5.37:g.140572948G>A	ENSP00000239446:p.Ala275Thr		Somatic					p.A275T	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	1007	+			275			Cadherin 3.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.823G>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151681	0.38021	.	.	ENSG00000120324	ENST00000239446	T	0.52295	0.67	3.41	3.41	0.39046	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.62417	0.2426	M	0.65975	2.015	0.36291	D	0.856406	D	0.60160	0.987	P	0.59703	0.862	T	0.74694	-0.3579	9	0.87932	D	0	.	15.0394	0.71777	0.0:0.0:1.0:0.0	.	275	Q9UN67	PCDBA_HUMAN	T	275	ENSP00000239446:A275T	ENSP00000239446:A275T	A	+	1	0	PCDHB10	140553132	1.000000	0.71417	0.043000	0.18650	0.004000	0.04260	5.031000	0.64134	1.930000	0.55929	0.556000	0.70494	GCG		0.428	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		49	59	0	0	0	1	0	49	59					A	140572948	G	A	140572948	3	1	14	1	0	0	0	0	1	0	0	0	11544	1087	38	1	825	1	PCDHB10	5	140572948	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	102166684	140572948	40342312	24	969										
GRIA1	2890	broad.mit.edu	37	chr5	153149777	153149777	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	gtggacatacatgaagtcagCagagccatcagtttttgtgc	11	8	2	2			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:153149777C>A	ENST00000285900.5	+	13	2415	c.2072C>A	c.(2071-2073)gCa>gAa	p.A691E	GRIA1_ENST00000518783.1_Missense_Mutation_p.A701E|GRIA1_ENST00000521843.2_Missense_Mutation_p.A622E|GRIA1_ENST00000448073.4_Missense_Mutation_p.A701E|GRIA1_ENST00000340592.5_Missense_Mutation_p.A691E|GRIA1_ENST00000518142.1_Missense_Mutation_p.A611E	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	691					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)	ATGAAGTCAGCAGAGCCATCA	0.473																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2071-2073)gCa>gAa		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						153	142	146					5																	153149777		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153149777C>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.2072C>A	5.37:g.153149777C>A	ENSP00000285900:p.Ala691Glu		Somatic				GRIA1_ENST00000518783.1_Missense_Mutation_p.A701E|GRIA1_ENST00000518142.1_Missense_Mutation_p.A611E|GRIA1_ENST00000340592.5_Missense_Mutation_p.A691E|GRIA1_ENST00000448073.4_Missense_Mutation_p.A701E|GRIA1_ENST00000521843.2_Missense_Mutation_p.A622E	p.A691E	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)		13	2415	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	691					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2072C>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606311	0.87157	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.41	5.41	0.78517	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	L	0.49126	1.545	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;0.996	D;D;P;D;D	0.91635	0.999;0.999;0.857;0.999;0.938	T	0.57854	-0.7739	10	0.72032	D	0.01	.	18.1724	0.89751	0.0:1.0:0.0:0.0	.	701;701;611;691;691	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	E	691;691;611;645;691;624;622;701;701	ENSP00000285900:A691E;ENSP00000427920:A611E;ENSP00000339343:A691E;ENSP00000427864:A624E;ENSP00000442108:A622E;ENSP00000428994:A701E;ENSP00000415569:A701E	ENSP00000285900:A691E	A	+	2	0	GRIA1	153129970	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.642000	0.83385	2.525000	0.85131	0.655000	0.94253	GCA		0.473	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			39	123	1	0	1.66425e-11	1	1.87014e-11	39	123					A	153149777	C	A	153149777	3	1	14	1	0	0	0	0	1	0	0	0	6776	710	25	5	2122	5	GRIA1	5	153149777	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08	12576829	153149777	27765483	25	970										
ODZ2	57451	broad.mit.edu	37	chr5	167689260	167689260	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	ggcgtgtccagcatcgccagCgaagatagccgcaaggtggc	15	12	0	1			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:167689260C>G	ENST00000518659.1	+	29	7809	c.7770C>G	c.(7768-7770)agC>agG	p.S2590R	TENM2_ENST00000403607.2_Missense_Mutation_p.S2414R|TENM2_ENST00000520394.1_Missense_Mutation_p.S2351R|TENM2_ENST00000545108.1_Missense_Mutation_p.S2589R|TENM2_ENST00000519204.1_Missense_Mutation_p.S2469R	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2590					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)										GCATCGCCAGCGAAGATAGCC	0.557																																						ENST00000519204.1																			0											c.(7405-7407)agC>agG		teneurin transmembrane protein 2							35	40	38					5																	167689260		2085	4222	6307	SO:0001583	missense	57451							g.chr5:167689260C>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7770C>G	5.37:g.167689260C>G	ENSP00000429430:p.Ser2590Arg		Somatic				TENM2_ENST00000520394.1_Missense_Mutation_p.S2351R|TENM2_ENST00000403607.2_Missense_Mutation_p.S2414R|TENM2_ENST00000518659.1_Missense_Mutation_p.S2590R|TENM2_ENST00000545108.1_Missense_Mutation_p.S2589R	p.S2469R			WXS	Illumina GAIIx	Phase_I					28	7525	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.7407C>G		.	.	.	.	.	.	.	.	.	.	C	12.90	2.075057	0.36566	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89681	-2.08;-2.07;-2.18;-2.54;-2.55	5.42	3.62	0.41486	.	0.153384	0.64402	D	0.000001	T	0.81322	0.4798	L	0.32530	0.975	0.38770	D	0.954524	P;P;B	0.37594	0.601;0.466;0.095	B;B;B	0.36666	0.23;0.115;0.083	T	0.79838	-0.1634	10	0.87932	D	0	.	6.7118	0.23282	0.1761:0.6635:0.0:0.1604	.	2589;2590;2351	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	R	2590;2589;2469;2351;2414	ENSP00000429430:S2590R;ENSP00000438635:S2589R;ENSP00000428964:S2469R;ENSP00000427874:S2351R;ENSP00000384905:S2414R	ENSP00000384905:S2414R	S	+	3	2	ODZ2	167621838	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.008000	0.29872	0.749000	0.32854	0.655000	0.94253	AGC		0.557	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		9	15	0	0	0	1	0	9	15					G	167689260	C	G	167689260	3	3	14	1	0	0	0	0	1	0	0	0	10844	767	27	5	7857	5	ODZ2	5	167689260	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08	14539483	167689260	13226000	26	971										
SQSTM1	8878	broad.mit.edu	37	chr5	179263548	179263548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	aagaactatgacatcggagcGgctctggacaccatccagta	10	11	1	2	rs143977783		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:179263548G>A	ENST00000389805.4	+	8	1456	c.1278G>A	c.(1276-1278)gcG>gcA	p.A426A	SQSTM1_ENST00000402874.3_Silent_p.A342A|SQSTM1_ENST00000360718.5_Silent_p.A342A|SQSTM1_ENST00000510187.1_Missense_Mutation_p.R343Q|SQSTM1_ENST00000376929.3_Silent_p.A342A|C5orf45_ENST00000403396.2_3'UTR|C5orf45_ENST00000523267.1_5'Flank	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	426	Interaction with NTRK1. {ECO:0000250}.|UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACATCGGAGCGGCTCTGGACA	0.557																																						ENST00000510187.1																		SQSTM1/ALK(2)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13						c.(1027-1029)cGg>cAg		sequestosome 1		G	,,	0,4406		0,0,2203	157	144	148		1026,1026,1278	-7.8	1	5	dbSNP_134	148	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	SQSTM1	NM_001142298.1,NM_001142299.1,NM_003900.4	,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,	342/357,342/357,426/441	179263548	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8878				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179263548G>A	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"Paget disease of bone 3", "oxidative stress induced like"	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.1278G>A	5.37:g.179263548G>A			Somatic				SQSTM1_ENST00000402874.3_Silent_p.A342A|SQSTM1_ENST00000389805.4_Silent_p.A426A|C5orf45_ENST00000403396.2_3'UTR|SQSTM1_ENST00000360718.5_Silent_p.A342A|SQSTM1_ENST00000376929.3_Silent_p.A342A	p.R343Q			WXS	Illumina GAIIx	Phase_I	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1044	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	0			Interaction with NTRK1 (By similarity).		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.1028G>A	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	G	5.551	0.286616	0.10513	0.0	3.49E-4	ENSG00000161011	ENST00000510187	T	0.20881	2.04	4.53	-7.77	0.01227	.	.	.	.	.	T	0.10035	0.0246	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31392	-0.9945	8	0.59425	D	0.04	-10.1183	0.5335	0.00633	0.3262:0.1385:0.2571:0.2782	.	343	E7EMC7	.	Q	343	ENSP00000424477:R343Q	ENSP00000424477:R343Q	R	+	2	0	SQSTM1	179196154	0.001000	0.12720	0.956000	0.39512	0.180000	0.23129	-1.698000	0.01908	-0.992000	0.03472	-1.516000	0.00938	CGG		0.557	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			8	186	0	0	0	1	0	8	186					A	179263548	G	A	179263548	2	1	14	1	0	0	0	0	0	0	0	1	15145	1103	39	1		1	SQSTM1	5	179263548	Silent	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	11574288	179263548	1651712	27	972										
FLT4	2324	broad.mit.edu	37	chr5	180048621	180048621	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	tcgcacacatagtggccctcGtgctcgggcgcgacgcgggg	16	14	0	0			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:180048621G>A	ENST00000261937.6	-	13	2019	c.1941C>T	c.(1939-1941)caC>caT	p.H647H	FLT4_ENST00000393347.3_Silent_p.H647H|FLT4_ENST00000502649.1_Silent_p.H647H|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	647	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGGCCCTCGTGCTCGGGCG	0.687																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1939-1941)caC>caT		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						29	27	28					5																	180048621		2203	4295	6498	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048621G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1941C>T	5.37:g.180048621G>A			Somatic				FLT4_ENST00000502649.1_Silent_p.H647H|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.H647H	p.H647H	NM_182925.4	NP_891555.2	WXS	Illumina GAIIx	Phase_I	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	2019	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	647			Ig-like C2-type 6.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.1941C>T	CCDS4457.1																																																																																				0.687	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			29	36	0	0	0	1	0	29	36					A	180048621	G	A	180048621	2	1	14	1	0	0	0	0	0	0	0	1	5952	1136	40	1		1	FLT4	5	180048621	Silent	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	785073	180048621	866639	28	973										
THBS2	7058	broad.mit.edu	37	chr6	169623562	169623562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	atctttacaaatatcaccccGtccatcacctatgcacaaag	3	14	3	0	rs182173220	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr6:169623562G>A	ENST00000366787.3	-	19	3031	c.2782C>T	c.(2782-2784)Cgg>Tgg	p.R928W	THBS2_ENST00000488355.1_5'Flank|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	928					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ATATCACCCCGTCCATCACCT	0.403													G|||	3	0.000599042	8e-04	0	5008	,	,		21293	0.001		0.001	False		,,,				2504	0				Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(2782-2784)Cgg>Tgg		thrombospondin 2							96	88	90					6																	169623562		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169623562G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2782C>T	6.37:g.169623562G>A	ENSP00000355751:p.Arg928Trp		Somatic				XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.R928W	NM_003247.2	NP_003238.2	WXS	Illumina GAIIx	Phase_I	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	19	3031	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	928					A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.2782C>T	CCDS34574.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.39	1.924518	0.34002	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.98493	-4.96	4.73	1.4	0.22301	.	0.000000	0.38720	U	0.001600	D	0.98732	0.9574	M	0.87827	2.91	0.43061	D	0.994681	D	0.89917	1.0	D	0.97110	1.0	D	0.99787	1.1030	10	0.72032	D	0.01	-40.5763	15.3828	0.74673	0.0:0.0:0.5832:0.4168	.	928	P35442	TSP2_HUMAN	W	928;186	ENSP00000355751:R928W	ENSP00000355751:R928W	R	-	1	2	THBS2	169365487	0.988000	0.35896	0.961000	0.40146	0.311000	0.27955	1.695000	0.37763	0.378000	0.24764	-0.553000	0.04205	CGG		0.403	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		4	52	0	0	0	1	0	4	52					A	169623562	G	A	169623562	3	1	14	1	0	0	0	0	1	0	0	0	15869	1144	40	1	756	1	THBS2	6	169623562	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08		169623562	1491505	29	974										
TMEM195	392636	broad.mit.edu	37	chr7	15601455	15601455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	aactgaaacatcctgctgggCttctgggttcttcatttctg	9	10	4	1			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr7:15601455C>T	ENST00000342526.3	-	1	185	c.16G>A	c.(16-18)Gcc>Acc	p.A6T		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	6					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCCTGCTGGGCTTCTGGGTTC	0.448																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(16-18)Gcc>Acc		alkylglycerol monooxygenase							106	102	103					7																	15601455		2203	4300	6503	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15601455C>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"Fatty acid hydroxylase domain containing"	33784	protein-coding gene	gene with protein product		613738	"transmembrane protein 195"	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.16G>A	7.37:g.15601455C>T	ENSP00000341662:p.Ala6Thr		Somatic					p.A6T	NM_001004320.1	NP_001004320.1	WXS	Illumina GAIIx	Phase_I	Q6ZNB7	ALKMO_HUMAN			1	185	-			6					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.16G>A	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398278	0.42512	.	.	ENSG00000187546	ENST00000342526	T	0.31510	1.49	5.93	5.04	0.67666	.	0.481200	0.21678	N	0.070762	T	0.23926	0.0579	L	0.36672	1.1	0.25367	N	0.988733	B	0.10296	0.003	B	0.08055	0.003	T	0.06661	-1.0814	10	0.46703	T	0.11	-4.868	9.7781	0.40632	0.0:0.8495:0.0:0.1505	.	6	Q6ZNB7	ALKMO_HUMAN	T	6	ENSP00000341662:A6T	ENSP00000341662:A6T	A	-	1	0	AGMO	15567980	0.925000	0.31364	0.997000	0.53966	0.866000	0.49608	1.302000	0.33459	2.814000	0.96858	0.655000	0.94253	GCC		0.448	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		12	106	0	0	0	1	0	12	106					T	15601455	C	T	15601455	3	4	14	1	0	0	0	0	1	0	0	0	16132	797	28	3	1373	3	TMEM195	7	15601455	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08		15601455	143537208	30	975										
WBSCR17	64409	broad.mit.edu	37	chr7	70853251	70853251	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	ctcaagtactccaaggacctGccccagatatccatcatatt	5	14	2	1			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr7:70853251G>A	ENST00000333538.5	+	3	1087	c.453G>A	c.(451-453)ctG>ctA	p.L151L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	151	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCAAGGACCTGCCCCAGATAT	0.542																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(451-453)ctG>ctA		Williams-Beuren syndrome chromosome region 17							116	105	109					7																	70853251		2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70853251G>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.453G>A	7.37:g.70853251G>A			Somatic				WBSCR17_ENST00000498380.2_3'UTR	p.L151L	NM_022479.1	NP_071924.1	WXS	Illumina GAIIx	Phase_I	Q6IS24	GLTL3_HUMAN			3	1087	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	151			Catalytic subdomain A.		Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.453G>A	CCDS5540.1																																																																																				0.542	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		6	66	0	0	0	1	0	6	66					A	70853251	G	A	70853251	2	1	14	1	0	0	0	0	0	0	0	1	17279	1306	46	3		3	WBSCR17	7	70853251	Silent	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	55251796	70853251	88285412	31	976										
MAGI2	9863	broad.mit.edu	37	chr7	77797376	77797376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	gctcatctcctgggtgaaggCggccatctctgtcggctgag	14	12	3	2			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr7:77797376C>T	ENST00000354212.4	-	15	2706	c.2453G>A	c.(2452-2454)cGc>cAc	p.R818H	MAGI2_ENST00000522391.1_Missense_Mutation_p.R818H|MAGI2_ENST00000419488.1_Missense_Mutation_p.R804H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	818	PDZ 4. {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)				TGGGTGAAGGCGGCCATCTCT	0.507																																						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.(2452-2454)cGc>cAc		membrane associated guanylate kinase, WW and PDZ domain containing 2							119	109	112					7																	77797376		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77797376C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2453G>A	7.37:g.77797376C>T	ENSP00000346151:p.Arg818His		Somatic				MAGI2_ENST00000419488.1_Missense_Mutation_p.R804H|MAGI2_ENST00000522391.1_Missense_Mutation_p.R818H	p.R818H	NM_012301.3	NP_036433.2	WXS	Illumina GAIIx	Phase_I	Q86UL8	MAGI2_HUMAN			15	2706	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	818			PDZ 4.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2453G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	35	5.585777	0.96578	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.49139	0.79;0.92;0.92	5.96	5.96	0.96718	PDZ/DHR/GLGF (4);	0.000000	0.37437	U	0.002100	T	0.78515	0.4295	H	0.94306	3.52	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.70487	0.91;0.969;0.91	D	0.83716	0.0190	10	0.87932	D	0	.	19.4074	0.94653	0.0:1.0:0.0:0.0	.	818;804;818	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	H	804;818;818;818	ENSP00000405766:R804H;ENSP00000346151:R818H;ENSP00000428389:R818H	ENSP00000346151:R818H	R	-	2	0	MAGI2	77635312	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.831000	0.97527	0.650000	0.86243	CGC		0.507	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		33	101	0	0	0	1	0	33	101					T	77797376	C	T	77797376	3	4	14	1	0	0	0	0	1	0	0	0	9200	768	27	1	1946	1	MAGI2	7	77797376	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08	6944125	77797376	81341287	32	977										
GRM3	2913	broad.mit.edu	37	chr7	86415593	86415593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	ctaggtggcaaacctgctgcGgctcttccagatccctcaga	10	14	2	2			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr7:86415593G>A	ENST00000361669.2	+	3	1584	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R162Q|GRM3_ENST00000536043.1_Missense_Mutation_p.R34Q|GRM3_ENST00000394720.2_Missense_Mutation_p.R160Q|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	162					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					AACCTGCTGCGGCTCTTCCAG	0.522																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(484-486)cGg>cAg		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						151	163	159					7																	86415593		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86415593G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.485G>A	7.37:g.86415593G>A	ENSP00000355316:p.Arg162Gln		Somatic				AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.R34Q|GRM3_ENST00000394720.2_Missense_Mutation_p.R160Q|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R162Q	p.R162Q	NM_000840.2	NP_000831.2	WXS	Illumina GAIIx	Phase_I	Q14832	GRM3_HUMAN			3	1584	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		162					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.485G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.510994	0.85389	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	5.68	5.68	0.88126	GPCR, family 3, conserved site (1);Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89438	0.6715	L	0.55103	1.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	D	0.88183	0.2872	10	0.42905	T	0.14	.	18.7805	0.91930	0.0:0.0:1.0:0.0	.	34;162;162	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	Q	162;34;34;162;160	ENSP00000355316:R162Q;ENSP00000405427:R34Q;ENSP00000441407:R34Q;ENSP00000398767:R162Q;ENSP00000378209:R160Q	ENSP00000355316:R162Q	R	+	2	0	GRM3	86253529	1.000000	0.71417	0.493000	0.27502	0.959000	0.62525	9.725000	0.98778	2.693000	0.91896	0.655000	0.94253	CGG		0.522	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			158	37	0	0	0	1	0	158	37					A	86415593	G	A	86415593	3	1	14	1	0	0	0	0	1	0	0	0	6807	1116	39	1	491	1	GRM3	7	86415593	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	8618217	86415593	72723070	33	978										
FAM86B2	653333	broad.mit.edu	37	chr8	12285188	12285188	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	agctcggtggtgaacagctgGcatgtctctgggttgcggac	16	9	1	1			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr8:12285188G>A	ENST00000262365.4	-	7	869	c.870C>T	c.(868-870)tgC>tgT	p.C290C	FAM86B2_ENST00000309608.5_3'UTR|FAM86B2_ENST00000351291.4_Silent_p.C256C|FAM86B2_ENST00000393715.3_Silent_p.C62C	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	290										endometrium(1)|kidney(2)	3						TGAACAGCTGGCATGTCTCTG	0.647																																						ENST00000262365.4																			0				endometrium(1)|kidney(2)	3						c.(868-870)tgC>tgT		family with sequence similarity 86, member B2																																				SO:0001819	synonymous_variant	653333							g.chr8:12285188G>A		CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.870C>T	8.37:g.12285188G>A			Somatic				FAM86B2_ENST00000351291.4_Silent_p.C256C|FAM86B2_ENST00000393715.3_Silent_p.C62C|FAM86B2_ENST00000309608.5_3'UTR	p.C290C	NM_001137610.1	NP_001131082.1	WXS	Illumina GAIIx	Phase_I	P0C5J1	F86B2_HUMAN			7	869	-			290						Silent	SNP	ENST00000262365.4	37	c.870C>T	CCDS59092.1																																																																																				0.647	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_928336		48	284	0	0	0	1	0	48	284					A	12285188	G	A	12285188	2	1	14	1	0	0	0	0	0	0	0	1	5653	1195	42	3		3	FAM86B2	8	12285188	Silent	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08		12285188	134078834	34	979										
SORBS3	10174	broad.mit.edu	37	chr8	22428688	22428688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	gggacagacctccccccgtcGcactggcttctccttcccca	8	20	1	1			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr8:22428688G>A	ENST00000240123.7	+	18	2080	c.1697G>A	c.(1696-1698)cGc>cAc	p.R566H	SORBS3_ENST00000428103.1_Missense_Mutation_p.R224H	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	566					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)		TCCCCCCGTCGCACTGGCTTC	0.697																																						ENST00000240123.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18						c.(1696-1698)cGc>cAc		sorbin and SH3 domain containing 3							23	24	24					8																	22428688		2188	4277	6465	SO:0001583	missense	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22428688G>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.1697G>A	8.37:g.22428688G>A	ENSP00000240123:p.Arg566His		Somatic				SORBS3_ENST00000428103.1_Missense_Mutation_p.R224H	p.R566H	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)	18	2080	+		Prostate(55;0.0421)|Breast(100;0.102)	566					Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	ENST00000240123.7	37	c.1697G>A	CCDS6031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.59|12.59	1.984305|1.984305	0.35036|0.35036	.|.	.|.	ENSG00000120896|ENSG00000120896	ENST00000517962|ENST00000240123;ENST00000428103;ENST00000523965;ENST00000523348	.|T;T;T;T	.|0.14893	.|3.22;3.19;2.63;2.47	5.56|5.56	3.78|3.78	0.43462|0.43462	.|.	.|0.136917	.|0.33650	.|N	.|0.004698	T|T	0.13927|0.13927	0.0337|0.0337	L|L	0.39397|0.39397	1.21|1.21	0.44825|0.44825	D|D	0.99783|0.99783	.|B	.|0.17465	.|0.022	.|B	.|0.10450	.|0.005	T|T	0.04915|0.04915	-1.0918|-1.0918	5|10	.|0.62326	.|D	.|0.03	-5.1787|-5.1787	7.7787|7.7787	0.29051|0.29051	0.2548:0.0:0.7452:0.0|0.2548:0.0:0.7452:0.0	.|.	.|566	.|O60504	.|VINEX_HUMAN	T|H	78|566;224;224;177	.|ENSP00000240123:R566H;ENSP00000408476:R224H;ENSP00000429764:R224H;ENSP00000428678:R177H	.|ENSP00000240123:R566H	A|R	+|+	1|2	0|0	SORBS3|SORBS3	22484633|22484633	0.000000|0.000000	0.05858|0.05858	0.958000|0.958000	0.39756|0.39756	0.489000|0.489000	0.33432|0.33432	0.841000|0.841000	0.27613|0.27613	0.722000|0.722000	0.32252|0.32252	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.697	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		35	54	0	0	0	1	0	35	54					A	22428688	G	A	22428688	3	1	14	1	0	0	0	0	1	0	0	0	14944	1087	38	1	1763	1	SORBS3	8	22428688	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	10143500	22428688	123935334	35	980										
CDKN2B	1030	broad.mit.edu	37	chr9	22006054	22006054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	ccgctcctcggccaagtccaCgggcagacgaccccaggcat	11	18	0	1			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr9:22006054C>T	ENST00000276925.6	-	2	758	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B_ENST00000380142.4_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	117					aging (GO:0007568)|cell cycle arrest (GO:0007050)|cellular response to extracellular stimulus (GO:0031668)|cellular response to nutrient (GO:0031670)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|liver development (GO:0001889)|megakaryocyte differentiation (GO:0030219)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to cytokine (GO:0034097)|response to organic cyclic compound (GO:0014070)|spleen development (GO:0048536)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		GCCAAGTCCACGGGCAGACGA	0.716																																						ENST00000276925.6																			2	Whole gene deletion(2)	p.0(1)|p.0?(1)	lung(2)	lung(2)	2						c.(349-351)Gtg>Atg		cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)							14	17	16					9																	22006054		2193	4273	6466	SO:0001583	missense	1030				cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr9:22006054C>T	AB060808	CCDS6512.1, CCDS6513.1	9p21	2008-07-21			ENSG00000147883	ENSG00000147883			1788	protein-coding gene	gene with protein product		600431				8078588	Standard	NM_004936		Approved	P15, MTS2, INK4B, TP15, CDK4I, p15INK4b	uc003zpo.3	P42772	OTTHUMG00000019691	ENST00000276925.6:c.349G>A	9.37:g.22006054C>T	ENSP00000276925:p.Val117Met		Somatic				CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA	p.V117M	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	WXS	Illumina GAIIx	Phase_I	P42772	CDN2B_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)	2	758	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)	117					O15125|Q6FI09	Missense_Mutation	SNP	ENST00000276925.6	37	c.349G>A	CCDS6512.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820206	0.71028	.	.	ENSG00000147883	ENST00000276925	T	0.64438	-0.1	4.79	2.78	0.32641	Ankyrin repeat-containing domain (4);	0.134851	0.49305	D	0.000141	T	0.54287	0.1849	N	0.16862	0.45	0.80722	D	1	D	0.61080	0.989	P	0.58130	0.833	T	0.56673	-0.7940	10	0.72032	D	0.01	-33.8011	5.2357	0.15445	0.388:0.5138:0.0:0.0982	.	117	P42772	CDN2B_HUMAN	M	117	ENSP00000276925:V117M	ENSP00000276925:V117M	V	-	1	0	CDKN2B	21996054	0.618000	0.27051	1.000000	0.80357	0.922000	0.55478	0.068000	0.14531	1.216000	0.43427	-0.152000	0.13540	GTG		0.716	CDKN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051932.2	NM_004936		12	20	0	0	0	1	0	12	20					T	22006054	C	T	22006054	3	4	14	1	0	0	0	0	1	0	0	0	3166	536	19	1	71	1	CDKN2B	9	22006054	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08		22006054	119207377	36	981										
C9orf100	84904	broad.mit.edu	37	chr9	35664430	35664430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	ggttatagagctccaagtggCggcagaagccctccagccct	12	13	0	2			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr9:35664430C>T	ENST00000378387.3	-	3	410	c.293G>A	c.(292-294)cGc>cAc	p.R98H	ARHGEF39_ENST00000378395.2_Missense_Mutation_p.R62H|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000343259.3_Missense_Mutation_p.R98H	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	98	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										CTCCAAGTGGCGGCAGAAGCC	0.567																																						ENST00000378387.3																			0											c.(292-294)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 39							86	93	91					9																	35664430		2203	4300	6503	SO:0001583	missense	84904							g.chr9:35664430C>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.293G>A	9.37:g.35664430C>T	ENSP00000367638:p.Arg98His		Somatic				ARHGEF39_ENST00000343259.3_Missense_Mutation_p.R98H|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.R62H|ARHGEF39_ENST00000490970.1_5'UTR	p.R98H	NM_032818.2	NP_116207.2	WXS	Illumina GAIIx	Phase_I					3	410	-								Q49AG0|Q6TPQ2|Q96ST6	Missense_Mutation	SNP	ENST00000378387.3	37	c.293G>A	CCDS6584.2	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854703	0.51376	.	.	ENSG00000137135	ENST00000378387;ENST00000378395;ENST00000343259	T;T;T	0.63255	-0.03;-0.03;-0.03	6.02	-0.529	0.11901	Dbl homology (DH) domain (5);	0.892234	0.10054	N	0.721790	T	0.36303	0.0962	N	0.05230	-0.09	0.22811	N	0.998708	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.20240	-1.0281	10	0.25106	T	0.35	-23.8193	8.9675	0.35885	0.0:0.2436:0.3407:0.4157	.	98;98	B4E0T1;Q8N4T4	.;CI100_HUMAN	H	98;62;98	ENSP00000367638:R98H;ENSP00000367648:R62H;ENSP00000344922:R98H	ENSP00000344922:R98H	R	-	2	0	C9orf100	35654430	0.701000	0.27806	0.976000	0.42696	0.996000	0.88848	-0.209000	0.09358	0.138000	0.18790	-0.137000	0.14449	CGC		0.567	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		46	66	0	0	0	1	0	46	66					T	35664430	C	T	35664430	3	4	14	1	0	0	0	0	1	0	0	0	2446	768	27	1	742	1	C9orf100	9	35664430	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08	13658376	35664430	105549001	37	982										
TRPM6	140803	broad.mit.edu	37	chr9	77354770	77354770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	atcctcagaccaagtgctgaCgactctcatagctttacgga	8	12	2	2	rs142946646		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr9:77354770C>T	ENST00000360774.1	-	34	5593	c.5356G>A	c.(5356-5358)Gtc>Atc	p.V1786I	TRPM6_ENST00000376871.3_Missense_Mutation_p.V623I|TRPM6_ENST00000376864.4_Missense_Mutation_p.V1790I|TRPM6_ENST00000451710.3_Missense_Mutation_p.V1790I|TRPM6_ENST00000376872.3_Missense_Mutation_p.V741I|TRPM6_ENST00000361255.3_Missense_Mutation_p.V1781I|TRPM6_ENST00000449912.2_Missense_Mutation_p.V1781I	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1786	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				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						CAAGTGCTGACGACTCTCATA	0.502																																						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.(5368-5370)Gtc>Atc		transient receptor potential cation channel, subfamily M, member 6							114	102	106					9																	77354770		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.chr9:77354770C>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.5356G>A	9.37:g.77354770C>T	ENSP00000354006:p.Val1786Ile		Somatic				TRPM6_ENST00000449912.2_Missense_Mutation_p.V1781I|TRPM6_ENST00000376864.4_Missense_Mutation_p.V1790I|TRPM6_ENST00000376871.3_Missense_Mutation_p.V623I|TRPM6_ENST00000376872.3_Missense_Mutation_p.V741I|TRPM6_ENST00000361255.3_Missense_Mutation_p.V1781I|TRPM6_ENST00000360774.1_Missense_Mutation_p.V1786I	p.V1790I			WXS	Illumina GAIIx	Phase_I	Q9BX84	TRPM6_HUMAN			33	5605	-			1786			Alpha-type protein kinase.		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5368G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	8.786	0.929325	0.18131	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56	5.96	-0.852	0.10713	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.436979	0.27720	N	0.018137	T	0.04724	0.0128	N	0.11106	0.095	0.28029	N	0.934212	P;P;P;B;B;B	0.40931	0.55;0.55;0.733;0.019;0.002;0.015	B;B;B;B;B;B	0.33392	0.055;0.163;0.163;0.012;0.001;0.007	T	0.44907	-0.9297	10	0.09338	T	0.73	.	11.3445	0.49552	0.0:0.474:0.0:0.526	.	333;619;737;1786;1781;1781	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	I	1786;1790;741;623;1781;1781;332;1790	ENSP00000354006:V1786I;ENSP00000407341:V1790I;ENSP00000366068:V741I;ENSP00000366067:V623I;ENSP00000396672:V1781I;ENSP00000354962:V1781I;ENSP00000366060:V1790I	ENSP00000354006:V1786I	V	-	1	0	TRPM6	76544590	0.997000	0.39634	0.994000	0.49952	0.814000	0.46013	0.513000	0.22770	-0.059000	0.13154	-0.290000	0.09829	GTC		0.502	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		4	88	0	0	0	1	0	4	88					T	77354770	C	T	77354770	3	4	14	1	0	0	0	0	1	0	0	0	16605	536	19	1	736	1	TRPM6	9	77354770	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08	41690340	77354770	63858661	38	983										
RALGDS	5900	broad.mit.edu	37	chr9	135985085	135985085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	agccgtatctagaggaggccGtgagggcgtcacatctaccg	14	11	3	2			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr9:135985085G>A	ENST00000372050.3	-	4	533	c.512C>T	c.(511-513)aCg>aTg	p.T171M	RALGDS_ENST00000393157.3_Missense_Mutation_p.T170M|RALGDS_ENST00000469972.1_5'Flank|RALGDS_ENST00000372047.3_Intron|RALGDS_ENST00000393160.3_Missense_Mutation_p.T116M|RALGDS_ENST00000372062.3_Intron|RALGDS_ENST00000542690.1_Missense_Mutation_p.T242M	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	171	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				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)	p.T171M(1)		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)		AGAGGAGGCCGTGAGGGCGTC	0.527			T	CIITA	"PMBL, Hodgkin Lymphona, "																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"PMBL, Hodgkin Lymphona, "		1	Substitution - Missense(1)	p.T171M(1)	large_intestine(1)	endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(346-348)aCg>aTg		ral guanine nucleotide dissociation stimulator							176	135	149					9																	135985085		2202	4300	6502	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.chr9:135985085G>A	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.512C>T	9.37:g.135985085G>A	ENSP00000361120:p.Thr171Met		Somatic				RALGDS_ENST00000372050.3_Missense_Mutation_p.T171M|RALGDS_ENST00000542690.1_Missense_Mutation_p.T242M|RALGDS_ENST00000372047.3_Intron|RALGDS_ENST00000372062.3_Intron|RALGDS_ENST00000393157.3_Missense_Mutation_p.T170M	p.T116M	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)	4	700	-			171			N-terminal Ras-GEF.		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.347C>T	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314207	0.40996	.	.	ENSG00000160271	ENST00000372050;ENST00000393160;ENST00000393157;ENST00000542690	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	4.6	0.716	0.18191	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	1.051230	0.07437	N	0.896693	T	0.24275	0.0588	N	0.14661	0.345	0.29098	N	0.88163	P;B;P;B	0.38395	0.576;0.256;0.629;0.256	B;B;B;B	0.24701	0.032;0.024;0.055;0.036	T	0.17379	-1.0371	10	0.48119	T	0.1	.	6.205	0.20598	0.4219:0.0:0.5781:0.0	.	242;116;170;171	F5H6M6;Q6KH11;E7ERZ0;Q12967	.;.;.;GNDS_HUMAN	M	171;116;170;242	ENSP00000361120:T171M;ENSP00000376867:T116M;ENSP00000376864:T170M;ENSP00000437518:T242M	ENSP00000361120:T171M	T	-	2	0	RALGDS	134974906	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.462000	0.35266	0.260000	0.21731	0.563000	0.77884	ACG		0.527	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		6	79	0	0	0	1	0	6	79					A	135985085	G	A	135985085	3	1	14	1	0	0	0	0	1	0	0	0	13031	1145	40	1	2292	1	RALGDS	9	135985085	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	58630315	135985085	5228346	39	984										
GATA3	2625	broad.mit.edu	37	chr10	8097749	8097749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	cgcggcgcagtacccgctgcCggaggaggtggatgtgcttt	17	11	0	0			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr10:8097749C>T	ENST00000346208.3	+	2	586	c.131C>T	c.(130-132)cCg>cTg	p.P44L	GATA3-AS1_ENST00000355358.1_lincRNA|RP11-379F12.3_ENST00000458727.1_lincRNA|GATA3_ENST00000379328.3_Missense_Mutation_p.P44L|RP11-379F12.4_ENST00000418270.1_lincRNA			P23771	GATA3_HUMAN	GATA binding protein 3	44					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|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)|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)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TACCCGCTGCCGGAGGAGGTG	0.662			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																															ENST00000379328.3				Rec	yes		10	10p15	2625	"F, N, S"	GATA binding protein 3	yes	"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"	E			breast		0				NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(130-132)cCg>cTg		GATA binding protein 3							30	25	27					10																	8097749		2200	4294	6494	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8097749C>T	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.131C>T	10.37:g.8097749C>T	ENSP00000341619:p.Pro44Leu		Somatic				GATA3_ENST00000346208.3_Missense_Mutation_p.P44L	p.P44L	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	WXS	Illumina GAIIx	Phase_I	P23771	GATA3_HUMAN			2	699	+			44					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.131C>T	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.632012	0.67015	.	.	ENSG00000107485	ENST00000379328;ENST00000544011;ENST00000346208	D;D	0.97529	-4.42;-4.4	4.72	3.82	0.43975	.	0.441592	0.26069	N	0.026540	D	0.95822	0.8640	M	0.74881	2.28	0.37545	D	0.918473	P;P	0.46142	0.571;0.873	B;B	0.43754	0.081;0.43	D	0.94692	0.7875	9	.	.	.	-16.3786	8.546	0.33421	0.1515:0.7654:0.0:0.0831	.	44;44	P23771;P23771-2	GATA3_HUMAN;.	L	44	ENSP00000368632:P44L;ENSP00000341619:P44L	.	P	+	2	0	GATA3	8137755	0.342000	0.24809	0.218000	0.23776	0.799000	0.45148	4.606000	0.61126	0.970000	0.38263	0.561000	0.74099	CCG		0.662	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		6	9	0	0	0	1	0	6	9					T	8097749	C	T	8097749	3	4	14	1	0	0	0	0	1	0	0	0	6263	652	23	1	133	1	GATA3	10	8097749	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08		8097749	127436998	40	985										
STK32C	282974	broad.mit.edu	37	chr10	134040384	134040384	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	caccgtgtcctcggagaactGcacgttctgctgcaggtggt	13	12	1	1			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr10:134040384G>T	ENST00000368622.1	-	4	589	c.208C>A	c.(208-210)Cag>Aag	p.Q70K	STK32C_ENST00000368625.4_Missense_Mutation_p.Q200K					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)		TCGGAGAACTGCACGTTCTGC	0.622																																						ENST00000368622.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23						c.(208-210)Cag>Aag		serine/threonine kinase 32C							175	116	136					10																	134040384		2203	4300	6503	SO:0001583	missense	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134040384G>T	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.208C>A	10.37:g.134040384G>T	ENSP00000357611:p.Gln70Lys		Somatic				STK32C_ENST00000368625.4_Missense_Mutation_p.Q200K	p.Q70K			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	589	-		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)	187						Missense_Mutation	SNP	ENST00000368622.1	37	c.208C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.95|15.95	2.985057|2.985057	0.53934|0.53934	.|.	.|.	ENSG00000165752|ENSG00000165752	ENST00000368620|ENST00000368622;ENST00000298630;ENST00000368625	.|T;T;T	.|0.22945	.|1.93;1.93;1.93	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);	.|0.000000	.|0.64402	.|D	.|0.000015	T|T	0.18676|0.18676	0.0448|0.0448	N|N	0.02539|0.02539	-0.55|-0.55	0.58432|0.58432	D|D	0.999999|0.999999	.|P;B;B	.|0.42248	.|0.774;0.009;0.002	.|P;B;B	.|0.48873	.|0.593;0.017;0.055	T|T	0.36016|0.36016	-0.9765|-0.9765	6|10	0.87932|0.33940	D|T	0|0.23	.|.	17.78|17.78	0.88520|0.88520	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|200;126;187	.|B7Z7J1;F2Z300;Q86UX6	.|.;.;ST32C_HUMAN	E|K	257|70;187;200	.|ENSP00000357611:Q70K;ENSP00000298630:Q187K;ENSP00000357614:Q200K	ENSP00000357609:A257E|ENSP00000298630:Q187K	A|Q	-|-	2|1	0|0	STK32C|STK32C	133890374|133890374	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.896000|0.896000	0.52359|0.52359	7.284000|7.284000	0.78650|0.78650	2.207000|2.207000	0.71202|0.71202	0.460000|0.460000	0.39030|0.39030	GCA|CAG		0.622	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		69	64	1	0	2.02627e-32	1	2.37488e-32	69	64					T	134040384	G	T	134040384	3	4	14	1	0	0	0	0	1	0	0	0	15314	1328	46	5	937	5	STK32C	10	134040384	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	125942635	134040384	1494363	41	986										
MS4A7	58475	broad.mit.edu	37	chr11	60161317	60161317	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	aacaggtcaaaaagagttctTcacggtcttggatataagta	9	6	4	1			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr11:60161317T>A	ENST00000300184.3	+	7	902	c.706T>A	c.(706-708)Tca>Aca	p.S236T	MS4A14_ENST00000531783.1_5'Flank|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'Flank|MS4A7_ENST00000358246.1_Missense_Mutation_p.S191T|MS4A14_ENST00000300187.6_5'Flank|MS4A7_ENST00000530234.2_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.S191T|MS4A14_ENST00000395005.2_5'Flank	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	236						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						AAAGAGTTCTTCACGGTCTTG	0.373																																						ENST00000358246.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						c.(571-573)Tca>Aca		membrane-spanning 4-domains, subfamily A, member 7							104	103	103					11																	60161317		2203	4300	6503	SO:0001583	missense	58475					integral to membrane	receptor activity	g.chr11:60161317T>A	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.706T>A	11.37:g.60161317T>A	ENSP00000300184:p.Ser236Thr		Somatic				MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000300184.3_Missense_Mutation_p.S236T|MS4A7_ENST00000530234.2_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.S191T	p.S191T	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	WXS	Illumina GAIIx	Phase_I	Q9GZW8	MS4A7_HUMAN			6	764	+			236					A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	c.571T>A	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.811360	0.32053	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016	T;T;T	0.16324	3.11;2.35;2.35	3.79	1.47	0.22746	.	3.510310	0.01958	U	0.043108	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	D;P	0.54964	0.969;0.948	P;B	0.50192	0.634;0.431	T	0.21724	-1.0237	10	0.19147	T	0.46	-49.3741	5.2118	0.15320	0.0:0.242:0.0:0.758	.	191;236	Q9GZW8-2;Q9GZW8	.;MS4A7_HUMAN	T	236;191;191	ENSP00000300184:S236T;ENSP00000350983:S191T;ENSP00000434637:S191T	ENSP00000300184:S236T	S	+	1	0	MS4A7	59917893	0.006000	0.16342	0.001000	0.08648	0.028000	0.11728	0.344000	0.19962	0.314000	0.23086	0.383000	0.25322	TCA		0.373	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			5	49	0	0	0	1	0	5	49					A	60161317	T	A	60161317	3	1	14	1	0	0	0	0	1	0	0	0	9875	1783	62	4	728	4	MS4A7	11	60161317	Missense_Mutation	SNP	T	TCGA-N5-A59F-01A-11D-A28R-08		60161317	74845199	42	987										
ZP1	22917	broad.mit.edu	37	chr11	60637224	60637224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	ctcccaaggctctggccatgCctttcccagcccactggacc	8	19	1	0	rs138582317		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr11:60637224C>T	ENST00000278853.5	+	3	533	c.533C>T	c.(532-534)gCc>gTc	p.A178V		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	178					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCTGGCCATGCCTTTCCCAGC	0.632																																						ENST00000278853.5																			0				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(532-534)gCc>gTc		zona pellucida glycoprotein 1 (sperm receptor)							72	77	75					11																	60637224		2203	4299	6502	SO:0001583	missense	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60637224C>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.533C>T	11.37:g.60637224C>T	ENSP00000278853:p.Ala178Val		Somatic					p.A178V	NM_207341.2	NP_997224.2	WXS	Illumina GAIIx	Phase_I	P60852	ZP1_HUMAN			3	533	+			178						Missense_Mutation	SNP	ENST00000278853.5	37	c.533C>T	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	C	9.452	1.090860	0.20471	.	.	ENSG00000149506	ENST00000278853	T	0.24151	1.87	2.73	2.73	0.32206	.	1.329580	0.05782	U	0.608791	T	0.12008	0.0292	N	0.08118	0	0.09310	N	1	P	0.36909	0.573	B	0.20767	0.031	T	0.15235	-1.0444	10	0.39692	T	0.17	-3.7245	9.1737	0.37098	0.0:1.0:0.0:0.0	.	178	P60852	ZP1_HUMAN	V	178	ENSP00000278853:A178V	ENSP00000278853:A178V	A	+	2	0	ZP1	60393800	0.007000	0.16637	0.003000	0.11579	0.059000	0.15707	0.298000	0.19120	1.194000	0.43101	0.460000	0.39030	GCC		0.632	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		51	7	0	0	0	1	0	51	7					T	60637224	C	T	60637224	3	4	14	1	0	0	0	0	1	0	0	0	18230	739	26	3	543	3	ZP1	11	60637224	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08	475907	60637224	74369292	43	988										
FOLR3	2352	broad.mit.edu	37	chr11	71847090	71847090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	caggagtgcgcgggccaggaCggacctgctcaatgtctgca	15	12	2	0	rs371010355		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr11:71847090C>T	ENST00000445078.2	+	2	157	c.86C>T	c.(85-87)aCg>aTg	p.T29M	FOLR3_ENST00000456237.1_Missense_Mutation_p.T31M|FOLR3_ENST00000442948.2_Missense_Mutation_p.T31M			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	29					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)	CGGGCCAGGACGGACCTGCTC	0.622													C|||	1	0.000199681	0	0	5008	,	,		20165	0.001		0	False		,,,				2504	0					ENST00000445078.2																			0				large_intestine(3)|lung(8)|prostate(2)	13						c.(85-87)aCg>aTg		folate receptor 3 (gamma)	Folic Acid(DB00158)	C	MET/THR	0,4400		0,0,2200	110	114	112		92	-2.1	0	11		112	4,8582		0,4,4289	no	missense	FOLR3	NM_000804.2	81	0,4,6489	TT,TC,CC		0.0466,0.0,0.0308	possibly-damaging	31/246	71847090	4,12982	2200	4293	6493	SO:0001583	missense	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71847090C>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.86C>T	11.37:g.71847090C>T	ENSP00000390338:p.Thr29Met		Somatic				FOLR3_ENST00000456237.1_Missense_Mutation_p.T31M|FOLR3_ENST00000442948.2_Missense_Mutation_p.T31M	p.T29M			WXS	Illumina GAIIx	Phase_I	P41439	FOLR3_HUMAN			2	157	+			29					J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37	c.86C>T		.	.	.	.	.	.	.	.	.	.	N	13.15	2.150568	0.37923	0.0	4.66E-4	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948;ENST00000546166	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	3.4	-2.14	0.07123	.	2.124270	0.03408	U	0.204329	T	0.37489	0.1005	.	.	.	0.09310	N	1	B;P	0.43826	0.38;0.818	B;B	0.28991	0.035;0.097	T	0.40961	-0.9535	9	0.48119	T	0.1	.	1.0724	0.01624	0.2272:0.3983:0.1412:0.2334	.	31;29	E9PGT2;P41439	.;FOLR3_HUMAN	M	29;31;31;29	ENSP00000390338:T29M;ENSP00000399235:T31M;ENSP00000411161:T31M;ENSP00000446279:T29M	ENSP00000325032:T29M	T	+	2	0	FOLR3	71524738	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-2.104000	0.01340	0.011000	0.14865	0.491000	0.48974	ACG		0.622	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		30	166	0	0	0	1	0	30	166					T	71847090	C	T	71847090	3	4	14	1	0	0	0	0	1	0	0	0	5991	536	19	1	94	1	FOLR3	11	71847090	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08	11209866	71847090	63159426	44	989										
NOX4	50507	broad.mit.edu	37	chr11	89106611	89106611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	tctacatacctgtccagtctCctactattttaagatgaacc	4	12	2	2			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr11:89106611C>T	ENST00000263317.4	-	12	1362	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	NOX4_ENST00000528341.1_Missense_Mutation_p.G350E|NOX4_ENST00000542487.1_Missense_Mutation_p.G351E|NOX4_ENST00000343727.5_Missense_Mutation_p.G351E|NOX4_ENST00000527626.1_Missense_Mutation_p.G209E|NOX4_ENST00000375979.3_Missense_Mutation_p.G68E|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000532825.1_Missense_Mutation_p.G351E|NOX4_ENST00000424319.1_Missense_Mutation_p.G351E|NOX4_ENST00000535633.1_Missense_Mutation_p.G351E|NOX4_ENST00000531342.1_Missense_Mutation_p.G68E|NOX4_ENST00000527956.1_Missense_Mutation_p.G351E|NOX4_ENST00000534731.1_Missense_Mutation_p.G375E|NOX4_ENST00000413594.2_Missense_Mutation_p.G396E			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	375	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|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)	p.G375E(1)		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)				TGTCCAGTCTCCTACTATTTT	0.279																																						ENST00000535633.1																			1	Substitution - Missense(1)	p.G375E(1)	large_intestine(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.(1051-1053)gGa>gAa		NADPH oxidase 4							100	110	107					11																	89106611		2201	4283	6484	SO:0001583	missense	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.chr11:89106611C>T	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.1124G>A	11.37:g.89106611C>T	ENSP00000263317:p.Gly375Glu		Somatic				NOX4_ENST00000263317.4_Missense_Mutation_p.G375E|NOX4_ENST00000534731.1_Missense_Mutation_p.G375E|NOX4_ENST00000527626.1_Missense_Mutation_p.G209E|NOX4_ENST00000413594.2_Missense_Mutation_p.G396E|NOX4_ENST00000375979.3_Missense_Mutation_p.G68E|NOX4_ENST00000542487.1_Missense_Mutation_p.G351E|NOX4_ENST00000424319.1_Missense_Mutation_p.G351E|NOX4_ENST00000527956.1_Missense_Mutation_p.G351E|NOX4_ENST00000532825.1_Missense_Mutation_p.G351E|NOX4_ENST00000528341.1_Missense_Mutation_p.G350E|NOX4_ENST00000343727.5_Missense_Mutation_p.G351E|NOX4_ENST00000531342.1_Missense_Mutation_p.G68E|NOX4_ENST00000525196.1_Intron	p.G351E	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	WXS	Illumina GAIIx	Phase_I	Q9NPH5	NOX4_HUMAN			12	1362	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	375			FAD-binding FR-type.|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.1052G>A	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.057366	0.55325	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	T;T;T;T;T;T;T;T;T;T;T;D;D	0.98012	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;-4.05;-4.66	5.12	5.12	0.69794	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98757	0.9582	M	0.87971	2.92	0.52501	D	0.999951	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.992;0.998;1.0;0.999;1.0	D	0.99505	1.0954	9	.	.	.	-12.7557	15.4797	0.75514	0.0:1.0:0.0:0.0	.	351;209;350;68;68;375;375	E9PMY6;E9PR43;E9PPP2;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;NOX4_HUMAN	E	351;351;351;375;375;351;351;351;209;350;396;68;68	ENSP00000412446:G351E;ENSP00000440172:G351E;ENSP00000344747:G351E;ENSP00000436892:G375E;ENSP00000263317:G375E;ENSP00000434924:G351E;ENSP00000433797:G351E;ENSP00000439373:G351E;ENSP00000436093:G209E;ENSP00000436970:G350E;ENSP00000405705:G396E;ENSP00000435039:G68E;ENSP00000365146:G68E	.	G	-	2	0	NOX4	88746259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.868000	0.63021	2.382000	0.81193	0.563000	0.77884	GGA		0.279	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		6	89	0	0	0	1	0	6	89					T	89106611	C	T	89106611	3	4	14	1	0	0	0	0	1	0	0	0	10567	855	30	3	640	3	NOX4	11	89106611	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08	17259521	89106611	45899905	45	990										
ACRV1	56	broad.mit.edu	37	chr11	125547800	125547800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	agaaggctgttcaccggagcCatgttcacctgaaggctgtt	12	10	2	2			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr11:125547800C>T	ENST00000533904.1	-	2	787	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	ACRV1_ENST00000348856.3_Intron|ACRV1_ENST00000315608.3_Missense_Mutation_p.G149S|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000453509.1_Missense_Mutation_p.G79S|ACRV1_ENST00000530048.1_Missense_Mutation_p.G94S|ACRV1_ENST00000345274.1_Missense_Mutation_p.G79S|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000527795.1_Missense_Mutation_p.G79S|ACRV1_ENST00000445562.1_Missense_Mutation_p.G54S			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	149	4 X 4 AA repeats of S-G-E-H.|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)		TCACCGGAGCCATGTTCACCT	0.552																																						ENST00000533904.1																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(445-447)Ggc>Agc		acrosomal vesicle protein 1							196	175	182					11																	125547800		2201	4299	6500	SO:0001583	missense	56				multicellular organismal development	acrosomal vesicle		g.chr11:125547800C>T	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.445G>A	11.37:g.125547800C>T	ENSP00000432816:p.Gly149Ser		Somatic				ACRV1_ENST00000257382.2_Missense_Mutation_p.G94S|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000453509.1_Missense_Mutation_p.G79S|ACRV1_ENST00000345274.1_Missense_Mutation_p.G79S|ACRV1_ENST00000445562.1_Missense_Mutation_p.G54S|ACRV1_ENST00000433875.1_Missense_Mutation_p.G149S|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000426183.1_Missense_Mutation_p.G79S|ACRV1_ENST00000348856.3_Intron	p.G149S			WXS	Illumina GAIIx	Phase_I	P26436	ASPX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	2	787	-	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)	149			4 X 4 AA repeats of S-G-E-H.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].		Q53FF4	Missense_Mutation	SNP	ENST00000533904.1	37	c.445G>A	CCDS8460.1	.	.	.	.	.	.	.	.	.	.	C	4.374	0.068981	0.08436	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000257382;ENST00000426183;ENST00000453509;ENST00000445562;ENST00000345274;ENST00000315608;ENST00000530048;ENST00000527795	T;T;T;T;T;T;T;T;T;T	0.41065	2.36;2.31;2.37;2.32;2.35;2.45;1.01;2.31;2.37;2.32	4.74	-9.48	0.00591	.	2.245710	0.01853	N	0.036041	T	0.16727	0.0402	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B	0.12156	0.004;0.001;0.002;0.001;0.007;0.003;0.004	T	0.19976	-1.0289	10	0.20519	T	0.43	1.9225	1.4694	0.02412	0.303:0.1417:0.3294:0.2259	.	149;149;79;54;94;79;79	P26436;P26436-2;P26436-8;P26436-6;P26436-3;P26436-4;P26436-5	ASPX_HUMAN;.;.;.;.;.;.	S	149;149;94;79;79;54;79;149;94;79	ENSP00000432816:G149S;ENSP00000407846:G149S;ENSP00000257382:G94S;ENSP00000411583:G79S;ENSP00000397448:G79S;ENSP00000412653:G54S;ENSP00000257383:G79S;ENSP00000317684:G149S;ENSP00000433720:G94S;ENSP00000436819:G79S	ENSP00000257382:G94S	G	-	1	0	ACRV1	125053010	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.965000	0.01511	-4.271000	0.00060	-0.176000	0.13171	GGC		0.552	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	NM_001612		8	162	0	0	0	1	0	8	162					T	125547800	C	T	125547800	3	4	14	1	0	0	0	0	1	0	0	0	172	594	21	3	364	3	ACRV1	11	125547800	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08	36441189	125547800	9458716	46	991										
PDE1B	5153	broad.mit.edu	37	chr12	54963370	54963370	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	cctctgtgggccccacttacTctactgcggttctcaactgt	8	15	3	0			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr12:54963370T>G	ENST00000243052.3	+	5	887	c.451T>G	c.(451-453)Tct>Gct	p.S151A	PDE1B_ENST00000550620.1_Missense_Mutation_p.S131A|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.S110A	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	151					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)	CCCCACTTACTCTACTGCGGT	0.498																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(451-453)Tct>Gct		phosphodiesterase 1B, calmodulin-dependent							142	116	125					12																	54963370		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54963370T>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.451T>G	12.37:g.54963370T>G	ENSP00000243052:p.Ser151Ala		Somatic				PDE1B_ENST00000550620.1_Missense_Mutation_p.S131A|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.S110A	p.S151A	NM_000924.3	NP_000915.1	WXS	Illumina GAIIx	Phase_I	Q01064	PDE1B_HUMAN			5	887	+			151					Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.451T>G	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.194561	0.38806	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.68765	-0.35;-0.35;-0.35	4.16	4.16	0.48862	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.205977	0.41938	D	0.000783	T	0.53948	0.1828	L	0.29908	0.895	0.40562	D	0.981226	B;B	0.29552	0.248;0.161	B;B	0.29524	0.103;0.066	T	0.60622	-0.7227	10	0.72032	D	0.01	.	11.8061	0.52156	0.0:0.0:0.0:1.0	.	131;151	Q01064-2;Q01064	.;PDE1B_HUMAN	A	151;110;131	ENSP00000243052:S151A;ENSP00000442559:S110A;ENSP00000448519:S131A	ENSP00000243052:S151A	S	+	1	0	PDE1B	53249637	0.997000	0.39634	0.905000	0.35620	0.511000	0.34104	3.903000	0.56318	2.105000	0.64084	0.533000	0.62120	TCT		0.498	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			10	28	0	0	0	1	0	10	28					G	54963370	T	G	54963370	3	3	14	1	0	0	0	0	1	0	0	0	11643	1551	54	4	522	4	PDE1B	12	54963370	Missense_Mutation	SNP	T	TCGA-N5-A59F-01A-11D-A28R-08		54963370	78888525	47	992										
ERBB3	2065	broad.mit.edu	37	chr12	56477655	56477655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	gaaccttgagattgtgctcaCgggacacaatgccgacctct	10	12	2	1	rs142735651		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr12:56477655C>T	ENST00000267101.3	+	2	643	c.203C>T	c.(202-204)aCg>aTg	p.T68M	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.T68M|ERBB3_ENST00000415288.2_Missense_Mutation_p.T9M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	68					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)			ATTGTGCTCACGGGACACAAT	0.547																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(202-204)aCg>aTg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3		C	MET/THR,MET/THR	0,4406		0,0,2203	280	225	243		203,203	6	1	12	dbSNP_134	243	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ERBB3	NM_001005915.1,NM_001982.3	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	68/184,68/1343	56477655	1,13005	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.chr12:56477655C>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.203C>T	12.37:g.56477655C>T	ENSP00000267101:p.Thr68Met		Somatic				ERBB3_ENST00000411731.2_Missense_Mutation_p.T68M|ERBB3_ENST00000415288.2_Missense_Mutation_p.T9M|ERBB3_ENST00000450146.2_Intron	p.T68M	NM_001982.3	NP_001973.2	WXS	Illumina GAIIx	Phase_I	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		2	643	+			68					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.203C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.617002	0.28801	0.0	1.16E-4	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.96	5.96	0.96718	EGF receptor, L domain (1);	0.160269	0.42682	D	0.000668	T	0.55162	0.1903	N	0.04260	-0.245	0.80722	D	1	B;P	0.38195	0.014;0.622	B;B	0.27380	0.014;0.079	T	0.60403	-0.7270	10	0.20046	T	0.44	.	11.2718	0.49144	0.0:0.9174:0.0:0.0826	.	68;68	P21860;P21860-2	ERBB3_HUMAN;.	M	68;9;68;68;68;9;9	ENSP00000448636:T68M;ENSP00000449138:T9M;ENSP00000267101:T68M;ENSP00000415753:T68M;ENSP00000449713:T9M;ENSP00000408340:T9M	ENSP00000267101:T68M	T	+	2	0	ERBB3	54763922	1.000000	0.71417	0.979000	0.43373	0.935000	0.57460	5.434000	0.66526	2.823000	0.97156	0.650000	0.86243	ACG		0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			82	135	0	0	0	1	0	82	135					T	56477655	C	T	56477655	3	4	14	1	0	0	0	0	1	0	0	0	5210	536	19	1	209	1	ERBB3	12	56477655	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08	1514285	56477655	77374240	48	993										
RPLP0	6175	broad.mit.edu	37	chr12	120637130	120637130	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	gacttctccagagctgggttGttttccaggtgccctcggat	12	11	1	1			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr12:120637130G>A	ENST00000551150.1	-	2	528	c.213C>T	c.(211-213)aaC>aaT	p.N71N	PXN-AS1_ENST00000538804.1_RNA|RPLP0_ENST00000313104.5_Silent_p.N71N|RPLP0_ENST00000392514.4_Silent_p.N71N|PXN-AS1_ENST00000542314.1_RNA|RPLP0_ENST00000546989.1_Silent_p.N71N|RPLP0_ENST00000228306.4_Silent_p.N71N|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA|PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000552292.1_5'Flank			P05388	RLA0_HUMAN	ribosomal protein, large, P0	71					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGCTGGGTTGTTTTCCAGGT	0.567																																						ENST00000551150.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15						c.(211-213)aaC>aaT		ribosomal protein, large, P0							115	116	116					12																	120637130		2203	4300	6503	SO:0001819	synonymous_variant	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120637130G>A	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"L ribosomal proteins"	10371	protein-coding gene	gene with protein product	"acidic ribosomal phosphoprotein P0"	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.213C>T	12.37:g.120637130G>A			Somatic				RPLP0_ENST00000228306.4_Silent_p.N71N|RPLP0_ENST00000546989.1_Silent_p.N71N|RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000313104.5_Silent_p.N71N|RPLP0_ENST00000392514.4_Silent_p.N71N	p.N71N			WXS	Illumina GAIIx	Phase_I	P05388	RLA0_HUMAN			2	528	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		71					Q3B7A4|Q9BVK4	Silent	SNP	ENST00000551150.1	37	c.213C>T	CCDS9193.1																																																																																				0.567	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		51	101	0	0	0	1	0	51	101					A	120637130	G	A	120637130	2	1	14	1	0	0	0	0	0	0	0	1	13619	1368	48	3		3	RPLP0	12	120637130	Silent	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	64159475	120637130	13214765	49	994										
BRCA2	675	broad.mit.edu	37	chr13	32913905	32913905	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	atgcatacccacaaactgtaAatgaagatatttgcgttgag	8	7	0	3			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr13:32913905A>G	ENST00000380152.3	+	11	5646	c.5413A>G	c.(5413-5415)Aat>Gat	p.N1805D	BRCA2_ENST00000544455.1_Missense_Mutation_p.N1805D			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1805			N -> S (in dbSNP:rs80358765).		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)		ACAAACTGTAAATGAAGATAT	0.313			"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.(5413-5415)Aat>Gat	Homologous recombination	breast cancer 2, early onset							67	71	70					13																	32913905		2203	4300	6503	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.chr13:32913905A>G	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.5413A>G	13.37:g.32913905A>G	ENSP00000369497:p.Asn1805Asp	TCGA Ovarian(8;0.087)	Somatic				BRCA2_ENST00000380152.3_Missense_Mutation_p.N1805D	p.N1805D	NM_000059.3	NP_000050.2	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	5640	+		Lung SC(185;0.0262)	1805		N -> S.			O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.5413A>G	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	8.013	0.757963	0.15846	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00792	5.69;5.69	5.66	1.74	0.24563	.	0.456582	0.22932	N	0.053885	T	0.00637	0.0021	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.48055	-0.9068	10	0.25751	T	0.34	.	5.2755	0.15647	0.4824:0.2902:0.2274:0.0	.	1805	P51587	BRCA2_HUMAN	D	1805	ENSP00000369497:N1805D;ENSP00000439902:N1805D	ENSP00000369497:N1805D	N	+	1	0	BRCA2	31811905	0.000000	0.05858	0.182000	0.23118	0.022000	0.10575	0.525000	0.22956	0.518000	0.28383	-0.331000	0.08364	AAT		0.313	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		17	100	0	0	0	1	0	17	100					G	32913905	A	G	32913905	3	3	14	1	0	0	0	0	1	0	0	0	1501	14	1	4	5451	4	BRCA2	13	32913905	Missense_Mutation	SNP	A	TCGA-N5-A59F-01A-11D-A28R-08		32913905	82255973	50	995										
TSC22D1	8848	broad.mit.edu	37	chr13	45148061	45148061	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	gtacagcagacactgctgccGgagcctggccaacaggctgg	14	13	0	1	rs374971486		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr13:45148061G>T	ENST00000458659.2	-	1	2640	c.2150C>A	c.(2149-2151)cCg>cAg	p.P717Q	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	717	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CACTGCTGCCGGAGCCTGGCC	0.577																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2149-2151)cCg>cAg		TSC22 domain family, member 1							42	45	44					13																	45148061		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148061G>T	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2150C>A	13.37:g.45148061G>T	ENSP00000397435:p.Pro717Gln		Somatic				TSC22D1_ENST00000501704.2_Intron	p.P717Q	NM_183422.3	NP_904358.2	WXS	Illumina GAIIx	Phase_I	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	2640	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	717			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.2150C>A	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	g	0.774	-0.764593	0.02996	.	.	ENSG00000102804	ENST00000458659	T	0.26373	1.74	4.77	0.723	0.18231	.	0.475551	0.19597	N	0.110467	T	0.10637	0.0260	N	0.04880	-0.145	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34950	-0.9808	10	0.02654	T	1	.	14.7188	0.69289	0.0:0.0:0.6805:0.3194	.	717	Q15714	T22D1_HUMAN	Q	717	ENSP00000397435:P717Q	ENSP00000397435:P717Q	P	-	2	0	TSC22D1	44046061	0.489000	0.26004	0.230000	0.23976	0.953000	0.61014	0.637000	0.24659	-0.008000	0.14320	-0.532000	0.04303	CCG		0.577	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		16	205	1	0	6.72482e-11	1	7.47965e-11	16	205					T	45148061	G	T	45148061	3	4	14	1	0	0	0	0	1	0	0	0	16622	1116	39	5	1212	5	TSC22D1	13	45148061	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	12234156	45148061	70021817	51	996										
NEK5	341676	broad.mit.edu	37	chr13	52661488	52661488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	tttaacctgttccttcatttCgtttttcctaaatggcagct	5	10	1	0	rs267603847		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr13:52661488C>T	ENST00000355568.4	-	15	1517	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	460					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)	p.E517K(2)|p.E460K(2)		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)		TCCTTCATTTCGTTTTTCCTA	0.393																																						ENST00000355568.4																			4	Substitution - Missense(4)	p.E517K(2)|p.E460K(2)	urinary_tract(2)|large_intestine(2)	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.(1378-1380)Gaa>Aaa		NIMA-related kinase 5							151	144	146					13																	52661488		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52661488C>T	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.1378G>A	13.37:g.52661488C>T	ENSP00000347767:p.Glu460Lys		Somatic					p.E460K	NM_199289.1	NP_954983.1	WXS	Illumina GAIIx	Phase_I	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	15	1517	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	460					Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.1378G>A	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	6.210	0.406907	0.11754	.	.	ENSG00000197168	ENST00000355568	T	0.71222	-0.55	5.55	-5.29	0.02747	.	0.855682	0.10311	N	0.689946	T	0.51890	0.1701	L	0.39633	1.23	0.09310	N	1	B	0.24768	0.111	B	0.14578	0.011	T	0.31223	-0.9951	10	0.18276	T	0.48	.	8.2198	0.31534	0.115:0.251:0.0:0.6341	.	460	Q6P3R8	NEK5_HUMAN	K	460	ENSP00000347767:E460K	ENSP00000347767:E460K	E	-	1	0	NEK5	51559489	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-0.442000	0.06871	-1.580000	0.01644	-0.150000	0.13652	GAA		0.393	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		5	101	0	0	0	1	0	5	101					T	52661488	C	T	52661488	3	4	14	1	0	0	0	0	1	0	0	0	10336	893	31	1	780	1	NEK5	13	52661488	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08	7513427	52661488	62508390	52	997										
C15orf2	23742	broad.mit.edu	37	chr15	24921045	24921045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	tacttagtaaatttagacccGggtgccgccgccggcccctg	11	14	0	1			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr15:24921045G>A	ENST00000329468.2	+	1	505	c.31G>A	c.(31-33)Ggg>Agg	p.G11R		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	11					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											ATTTAGACCCGGGTGCCGCCG	0.662																																						ENST00000329468.2																			0											c.(31-33)Ggg>Agg		nuclear pore associated protein 1							5	7	6					15																	24921045		2058	4094	6152	SO:0001583	missense	23742							g.chr15:24921045G>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.31G>A	15.37:g.24921045G>A	ENSP00000333735:p.Gly11Arg		Somatic					p.G11R	NM_018958.2	NP_061831.2	WXS	Illumina GAIIx	Phase_I					1	505	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.31G>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	11.91	1.780813	0.31502	.	.	ENSG00000185823	ENST00000329468	T	0.08282	3.11	2.31	-4.63	0.03359	.	.	.	.	.	T	0.03220	0.0094	N	0.14661	0.345	0.09310	N	1	B	0.22851	0.076	B	0.09377	0.004	T	0.41161	-0.9524	9	0.21540	T	0.41	.	2.1971	0.03914	0.1428:0.182:0.4413:0.234	.	11	Q9NZP6	CO002_HUMAN	R	11	ENSP00000333735:G11R	ENSP00000333735:G11R	G	+	1	0	C15orf2	22472138	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.622000	0.00877	-1.888000	0.01113	-1.478000	0.00992	GGG		0.662	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		7	8	0	0	0	1	0	7	8					A	24921045	G	A	24921045	3	1	14	1	0	0	0	0	1	0	0	0	1786	1116	39	1	33	1	C15orf2	15	24921045	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08		24921045	77610347	53	998										
HERC2	8924	broad.mit.edu	37	chr15	28474383	28474383	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	ggcatccatcaaaacatttcGaatgttctgtacagcccaag	7	11	2	0			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr15:28474383G>A	ENST00000261609.7	-	34	5338	c.5230C>T	c.(5230-5232)Cga>Tga	p.R1744*		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)		AAAACATTTCGAATGTTCTGT	0.378																																						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.(5230-5232)Cga>Tga		HECT and RLD domain containing E3 ubiquitin protein ligase 2							133	146	142					15																	28474383		2203	4300	6503	SO:0001587	stop_gained	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.chr15:28474383G>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.5230C>T	15.37:g.28474383G>A	ENSP00000261609:p.Arg1744*		Somatic					p.R1744*	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)	34	5338	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1744						Nonsense_Mutation	SNP	ENST00000261609.7	37	c.5230C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	46	12.185232	0.99644	.	.	ENSG00000128731	ENST00000261609	.	.	.	4.27	2.22	0.28083	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9065	0.52715	0.0:0.0:0.5494:0.4506	.	.	.	.	X	1744	.	ENSP00000261609:R1744X	R	-	1	2	HERC2	26147978	1.000000	0.71417	0.995000	0.50966	0.858000	0.48976	6.059000	0.71133	0.974000	0.38366	0.555000	0.69702	CGA		0.378	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		23	297	0	0	0	1	0	23	297					A	28474383	G	A	28474383	4	1	14	1	0	0	0	0	0	1	0	0	7067	1066	37	1	9514	1	HERC2	15	28474383	Nonsense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	3553338	28474383	74057009	54	999										
RTF1	23168	broad.mit.edu	37	chr15	41772461	41772461	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	taagtcagccagtgacctctCagaagatctgttcaaagtac	8	10	4	3			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr15:41772461C>T	ENST00000389629.4	+	17	1976	c.1964C>T	c.(1963-1965)tCa>tTa	p.S655L		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	655					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)		AGTGACCTCTCAGAAGATCTG	0.448																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(1963-1965)tCa>tTa		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							94	86	89					15																	41772461		2203	4300	6503	SO:0001583	missense	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41772461C>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.1964C>T	15.37:g.41772461C>T	ENSP00000374280:p.Ser655Leu		Somatic					p.S655L	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)	17	1976	+		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)	655					Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	c.1964C>T	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	C	35	5.423862	0.96111	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.72104	0.3419	L	0.50333	1.59	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.68221	-0.5466	9	0.27785	T	0.31	-5.8076	18.6447	0.91407	0.0:1.0:0.0:0.0	.	655	Q92541	RTF1_HUMAN	L	655	.	ENSP00000374280:S655L	S	+	2	0	RTF1	39559753	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.625000	0.83145	2.392000	0.81423	0.563000	0.77884	TCA		0.448	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		49	67	0	0	0	1	0	49	67					T	41772461	C	T	41772461	3	4	14	1	0	0	0	0	1	0	0	0	13736	838	29	3	2030	3	RTF1	15	41772461	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08	13298078	41772461	60758931	55	1000										
ITGA11	22801	broad.mit.edu	37	chr15	68643609	68643609	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	gacttacggccaccgcatatCttgttacgttgtctctttcg	8	12	2	0			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr15:68643609C>G	ENST00000315757.7	-	8	967	c.881G>C	c.(880-882)aGa>aCa	p.R294T	ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000423218.2_Missense_Mutation_p.R294T	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	294	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CACCGCATATCTTGTTACGTT	0.557																																						ENST00000423218.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(880-882)aGa>aCa		integrin, alpha 11	Tirofiban(DB00775)						116	121	119					15																	68643609		2049	4191	6240	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68643609C>G	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.881G>C	15.37:g.68643609C>G	ENSP00000327290:p.Arg294Thr		Somatic				ITGA11_ENST00000315757.7_Missense_Mutation_p.R294T|ITGA11_ENST00000562826.1_5'UTR	p.R294T			WXS	Illumina GAIIx	Phase_I	Q9UKX5	ITA11_HUMAN			8	976	-			294			VWFA.		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.881G>C	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551671	0.45487	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	D;D	0.81821	-1.54;-1.54	5.3	5.3	0.74995	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.84669	0.5523	L	0.28400	0.85	0.40524	D	0.980868	D;D	0.76494	0.999;0.995	D;P	0.73708	0.981;0.88	D	0.87081	0.2166	10	0.87932	D	0	.	17.9264	0.88985	0.0:1.0:0.0:0.0	.	294;294	A8K8T0;Q9UKX5	.;ITA11_HUMAN	T	294	ENSP00000327290:R294T;ENSP00000403392:R294T	ENSP00000327290:R294T	R	-	2	0	ITGA11	66430663	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	2.294000	0.43567	2.476000	0.83614	0.561000	0.74099	AGA		0.557	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		10	38	0	0	0	1	0	10	38					G	68643609	C	G	68643609	3	3	14	1	0	0	0	0	1	0	0	0	7883	913	32	2	2777	2	ITGA11	15	68643609	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08	26871148	68643609	33887783	56	1001										
TP53	7157	broad.mit.edu	37	chr17	7578478	7578478	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	ggacgcgggtgccgggcgggGgtgtggaatcaacccacagc	19	11	1	0	rs137852790|rs137852791		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr17:7578478G>C	ENST00000269305.4	-	5	641	c.452C>G	c.(451-453)cCc>cGc	p.P151R	TP53_ENST00000455263.2_Missense_Mutation_p.P151R|TP53_ENST00000413465.2_Missense_Mutation_p.P151R|TP53_ENST00000420246.2_Missense_Mutation_p.P151R|TP53_ENST00000445888.2_Missense_Mutation_p.P151R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P151R	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (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.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(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)	GCCGGGCGGGGGTGTGGAATC	0.607		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"		90	Substitution - Missense(53)|Deletion - Frameshift(14)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(2)	p.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(1)	lung(17)|large_intestine(13)|ovary(10)|skin(8)|oesophagus(8)|breast(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|central_nervous_system(4)|bone(4)|upper_aerodigestive_tract(3)|soft_tissue(2)|urinary_tract(2)|liver(2)|vulva(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.(451-453)cCc>cGc	Other conserved DNA damage response genes	tumor protein p53							54	55	55					17																	7578478		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.chr17:7578478G>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.452C>G	17.37:g.7578478G>C	ENSP00000269305:p.Pro151Arg	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.P151R|TP53_ENST00000413465.2_Missense_Mutation_p.P151R|TP53_ENST00000445888.2_Missense_Mutation_p.P151R|TP53_ENST00000359597.4_Missense_Mutation_p.P151R|TP53_ENST00000455263.2_Missense_Mutation_p.P151R	p.P151R	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	584	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	151		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (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.452C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749177	0.49257	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99891	0.9948	M	0.91406	3.205	0.54753	D	0.999985	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.994;0.996;0.991;0.997;0.997;1.0	D	0.96236	0.9172	10	0.87932	D	0	-14.1156	12.4691	0.55777	0.0812:0.0:0.9188:0.0	.	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151R;ENSP00000352610:P151R;ENSP00000269305:P151R;ENSP00000398846:P151R;ENSP00000391127:P151R;ENSP00000391478:P151R;ENSP00000425104:P19R;ENSP00000423862:P58R;ENSP00000424104:P151R	ENSP00000269305:P151R	P	-	2	0	TP53	7519203	1.000000	0.71417	0.974000	0.42286	0.058000	0.15608	6.711000	0.74675	1.515000	0.48885	0.655000	0.94253	CCC		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		52	18	0	0	0	1	0	52	18					C	7578478	G	C	7578478	3	2	14	1	0	0	0	0	1	0	0	0	16396	1232	43	5	846	5	TP53	17	7578478	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08		7578478	73616732	57	1002										
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274170	39274170	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	tgcagctggggtggcagcagGtgggctggcagcacacagac	18	10	0	1			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr17:39274170G>T	ENST00000391413.2	-	1	436	c.398C>A	c.(397-399)aCc>aAc	p.T133N		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	133	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gtggcagcaggtgggctggca	0.672																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(397-399)aCc>aAc		keratin associated protein 4-11							7	13	11					17																	39274170		677	1579	2256	SO:0001583	missense	653240					keratin filament		g.chr17:39274170G>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.398C>A	17.37:g.39274170G>T	ENSP00000375232:p.Thr133Asn		Somatic					p.T133N	NM_033059.3	NP_149048.2	WXS	Illumina GAIIx	Phase_I	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	436	-		Breast(137;0.000496)	133			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.398C>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	16.39	3.108575	0.56291	.	.	ENSG00000212721	ENST00000391413	T	0.01464	4.86	4.58	1.2	0.21068	.	2.577010	0.03019	U	0.150524	T	0.05135	0.0137	M	0.93062	3.375	0.09310	N	1	B	0.33413	0.411	B	0.32022	0.139	T	0.48692	-0.9013	10	0.48119	T	0.1	.	2.0576	0.03585	0.1147:0.2125:0.4176:0.2553	.	133	Q9BYQ6	KR411_HUMAN	N	133	ENSP00000375232:T133N	ENSP00000375232:T133N	T	-	2	0	KRTAP4-11	36527696	0.000000	0.05858	0.916000	0.36221	0.959000	0.62525	-4.569000	0.00214	0.919000	0.36945	0.514000	0.50259	ACC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	70	1	0	0.00909568	1	0.0093531	4	70					T	39274170	G	T	39274170	3	4	14	1	0	0	0	0	1	0	0	0	8558	1261	44	5	193	5	KRTAP4-11	17	39274170	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	31695692	39274170	41921040	58	1003										
MRPS7	51081	broad.mit.edu	37	chr17	73258657	73258657	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	aggaatattatcgcaagccaGtggaggagctaactgaggag	14	6	0	1			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr17:73258657G>C	ENST00000245539.6	+	2	390	c.163G>C	c.(163-165)Gtg>Ctg	p.V55L	GGA3_ENST00000582486.1_5'Flank|GGA3_ENST00000538886.1_5'Flank|GGA3_ENST00000245541.6_5'Flank|GGA3_ENST00000578348.1_5'Flank|GGA3_ENST00000582717.1_5'Flank|MRPS7_ENST00000579761.1_Missense_Mutation_p.V55L|GGA3_ENST00000351904.7_5'Flank|GGA3_ENST00000537686.1_5'Flank|MRPS7_ENST00000579002.1_Missense_Mutation_p.V84L|GGA3_ENST00000579743.1_5'Flank	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	55					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TCGCAAGCCAGTGGAGGAGCT	0.493																																						ENST00000579761.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6						c.(163-165)Gtg>Ctg		mitochondrial ribosomal protein S7							149	156	154					17																	73258657		2203	4300	6503	SO:0001583	missense	51081				translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	g.chr17:73258657G>C	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"Mitochondrial ribosomal proteins / small subunits"	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.163G>C	17.37:g.73258657G>C	ENSP00000245539:p.Val55Leu		Somatic				MRPS7_ENST00000245539.6_Missense_Mutation_p.V55L|MRPS7_ENST00000579002.1_Missense_Mutation_p.V84L	p.V55L			WXS	Illumina GAIIx	Phase_I	Q9Y2R9	RT07_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		2	390	+	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		55					B2R9N5|Q53GD6	Missense_Mutation	SNP	ENST00000245539.6	37	c.163G>C	CCDS11718.1	.	.	.	.	.	.	.	.	.	.	G	9.571	1.120917	0.20877	.	.	ENSG00000125445	ENST00000245539	T	0.41065	1.01	5.57	-3.63	0.04529	Ribosomal protein S7 domain (2);	0.782771	0.12205	N	0.489851	T	0.12987	0.0315	N	0.05306	-0.075	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	10	0.02654	T	1	-1.5635	3.8723	0.09042	0.0839:0.3361:0.3198:0.2603	.	55	Q9Y2R9	RT07_HUMAN	L	55	ENSP00000245539:V55L	ENSP00000245539:V55L	V	+	1	0	MRPS7	70770252	0.000000	0.05858	0.004000	0.12327	0.349000	0.29174	-0.375000	0.07475	-0.164000	0.10927	0.650000	0.86243	GTG		0.493	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	NM_015971		12	221	0	0	0	1	0	12	221					C	73258657	G	C	73258657	3	2	14	1	0	0	0	0	1	0	0	0	9857	1029	36	5	169	5	MRPS7	17	73258657	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	33984487	73258657	7936553	59	1004										
CARD14	79092	broad.mit.edu	37	chr17	78172300	78172301	+	Frame_Shift_Ins	INS	-	-	G													0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	agcagatcagcgtcatcggcINSgggaacctcacgggcatctt					rs372197132|rs200610907		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr17:78172300_78172301insG	ENST00000573882.1	+	15	2297_2298	c.1761_1762insG	c.(1762-1764)gggfs	p.G588fs	CARD14_ENST00000570421.1_Frame_Shift_Ins_p.G588fs|CARD14_ENST00000392434.2_Frame_Shift_Ins_p.G351fs|RP11-334C17.5_ENST00000570309.1_RNA|CARD14_ENST00000344227.2_Frame_Shift_Ins_p.G588fs|CARD14_ENST00000573754.1_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	588	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCGTCATCGGCGGGAACCTCAC	0.678																																						ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(1759-1764)ggggaafs		caspase recruitment domain family, member 14																																				SO:0001589	frameshift_variant	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78172300_78172301insG	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1764dupG	17.37:g.78172303_78172303dupG	ENSP00000458715:p.Gly588fs		Somatic				CARD14_ENST00000570421.1_Frame_Shift_Ins_p.E588fs|CARD14_ENST00000344227.2_Frame_Shift_Ins_p.E588fs|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Frame_Shift_Ins_p.E351fs	p.E588fs			WXS	Illumina GAIIx	Phase_I	Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		15	2297_2298	+	all_neural(118;0.0952)		588			PDZ.		B8QQJ3|Q9BVB5	Frame_Shift_Ins	INS	ENST00000573882.1	37	c.1761_1762insG	CCDS11768.1																																																																																				0.678	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			7	361						7	361	---	---	---	---	G	78172301	-	G	78172300	7	5	14	1	0	1	1	0	0	0	0	0	2648	755	27	0	1807	0	CARD14	17	78172300	Frame_Shift_Ins	INS	-	TCGA-N5-A59F-01A-11D-A28R-08	4913643	78172300	3022910	60	1005										
ASXL3	80816	broad.mit.edu	37	chr18	31325498	31325498	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	ttcacagccctgaggtcaaaCagcaaaagcggctgctcccc	9	15	2	1			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr18:31325498C>A	ENST00000269197.5	+	12	5686	c.5686C>A	c.(5686-5688)Cag>Aag	p.Q1896K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1896					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAGGTCAAACAGCAAAAGCG	0.507																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(5686-5688)Cag>Aag		additional sex combs like 3 (Drosophila)							156	158	157					18																	31325498		2032	4180	6212	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325498C>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5686C>A	18.37:g.31325498C>A	ENSP00000269197:p.Gln1896Lys		Somatic					p.Q1896K	NM_030632.1	NP_085135.1	WXS	Illumina GAIIx	Phase_I	Q9C0F0	ASXL3_HUMAN			12	5686	+			1896					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5686C>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264345	0.59431	.	.	ENSG00000141431	ENST00000269197	T	0.20738	2.05	5.59	5.59	0.84812	.	.	.	.	.	T	0.35278	0.0926	L	0.27053	0.805	0.44330	D	0.997219	D	0.63880	0.993	D	0.67548	0.952	T	0.05886	-1.0858	9	0.51188	T	0.08	.	19.5908	0.95509	0.0:1.0:0.0:0.0	.	1896	Q9C0F0	ASXL3_HUMAN	K	1896	ENSP00000269197:Q1896K	ENSP00000269197:Q1896K	Q	+	1	0	ASXL3	29579496	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.666000	0.68059	2.619000	0.88677	0.655000	0.94253	CAG		0.507	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			28	430	1	0	2.14196e-07	1	2.31161e-07	28	430					A	31325498	C	A	31325498	3	1	14	1	0	0	0	0	1	0	0	0	1068	479	17	5	5732	5	ASXL3	18	31325498	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08		31325498	46751750	61	1006										
SYDE1	85360	broad.mit.edu	37	chr19	15224655	15224655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	tcggcgagccgagggtcaccGgtgacttcgaagacgacttc	14	12	1	2			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:15224655G>A	ENST00000342784.2	+	8	2120	c.2089G>A	c.(2089-2091)Ggt>Agt	p.G697S	SYDE1_ENST00000600440.1_Missense_Mutation_p.G630S|SYDE1_ENST00000600252.1_Missense_Mutation_p.G354S	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	697					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						GAGGGTCACCGGTGACTTCGA	0.622																																						ENST00000600252.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(1060-1062)Ggt>Agt		synapse defective 1, Rho GTPase, homolog 1 (C. elegans)							124	134	130					19																	15224655		2203	4300	6503	SO:0001583	missense	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15224655G>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.2089G>A	19.37:g.15224655G>A	ENSP00000341489:p.Gly697Ser		Somatic				SYDE1_ENST00000600440.1_Missense_Mutation_p.G630S|SYDE1_ENST00000342784.2_Missense_Mutation_p.G697S	p.G354S			WXS	Illumina GAIIx	Phase_I	Q6ZW31	SYDE1_HUMAN			5	2702	+			697					Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	ENST00000342784.2	37	c.1060G>A	CCDS12324.1	.	.	.	.	.	.	.	.	.	.	G	1.562	-0.536326	0.04082	.	.	ENSG00000105137	ENST00000342784	T	0.42513	0.97	5.23	0.628	0.17681	.	0.815141	0.11109	N	0.598819	T	0.22551	0.0544	N	0.19112	0.55	0.09310	N	1	B;B;B	0.31100	0.089;0.308;0.089	B;B;B	0.27887	0.054;0.084;0.054	T	0.20806	-1.0264	10	0.17832	T	0.49	.	6.9289	0.24429	0.4116:0.0:0.5884:0.0	.	630;630;697	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	S	697	ENSP00000341489:G697S	ENSP00000341489:G697S	G	+	1	0	SYDE1	15085655	0.000000	0.05858	0.001000	0.08648	0.081000	0.17604	-0.172000	0.09868	-0.045000	0.13468	0.491000	0.48974	GGT		0.622	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		6	311	0	0	0	1	0	6	311					A	15224655	G	A	15224655	3	1	14	1	0	0	0	0	1	0	0	0	15450	1116	39	1	2119	1	SYDE1	19	15224655	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08		15224655	43904328	62	1007										
CYP4F3	4051	broad.mit.edu	37	chr19	15756607	15756607	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	atatgtgctgctggtgggtgGggccctggcacgcaatcgtc	16	10	0	0			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:15756607G>T	ENST00000221307.8	+	3	324	c.277G>T	c.(277-279)Ggg>Tgg	p.G93W	CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000586182.2_Intron	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	93					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						CTGGTGGGTGGGGCCCTGGCA	0.567																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(277-279)Ggg>Tgg		cytochrome P450, family 4, subfamily F, polypeptide 3							117	105	109					19																	15756607		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.chr19:15756607G>T	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.277G>T	19.37:g.15756607G>T	ENSP00000221307:p.Gly93Trp		Somatic				CYP4F3_ENST00000586182.1_Intron|CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000591058.1_Intron	p.G93W	NM_000896.2	NP_000887.2	WXS	Illumina GAIIx	Phase_I	Q08477	CP4F3_HUMAN			3	325	+			93					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.277G>T	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	11.77	1.736364	0.30774	.	.	ENSG00000186529	ENST00000221307	D	0.97642	-4.47	3.91	2.82	0.32997	.	0.072248	0.56097	U	0.000040	D	0.97545	0.9196	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96753	0.9555	10	0.87932	D	0	.	6.4205	0.21740	0.2277:0.0:0.7723:0.0	.	93	Q08477	CP4F3_HUMAN	W	93	ENSP00000221307:G93W	ENSP00000221307:G93W	G	+	1	0	CYP4F3	15617607	1.000000	0.71417	0.992000	0.48379	0.135000	0.20990	4.120000	0.57897	2.007000	0.58848	0.609000	0.83330	GGG		0.567	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		37	46	1	0	1.04352e-10	1	1.14892e-10	37	46					T	15756607	G	T	15756607	3	4	14	1	0	0	0	0	1	0	0	0	4192	1232	43	5	283	5	CYP4F3	19	15756607	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	531952	15756607	43372376	63	1008										
TSHZ3	57616	broad.mit.edu	37	chr19	31768484	31768484	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	gtccagggcaggcagggaggGcttggcggccttgcccaggt	19	11	0	0			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:31768484G>T	ENST00000240587.4	-	2	2542	c.2215C>A	c.(2215-2217)Ccc>Acc	p.P739T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	739					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)					GGCAGGGAGGGCTTGGCGGCC	0.617																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2215-2217)Ccc>Acc		teashirt zinc finger homeobox 3							58	60	59					19																	31768484		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.chr19:31768484G>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.2215C>A	19.37:g.31768484G>T	ENSP00000240587:p.Pro739Thr		Somatic					p.P739T	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	2542	-	Esophageal squamous(110;0.226)		739					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2215C>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928475	0.73327	.	.	ENSG00000121297	ENST00000240587	T	0.40225	1.04	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.62085	0.2399	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.62891	-0.6758	10	0.59425	D	0.04	-27.8056	19.1085	0.93307	0.0:0.0:1.0:0.0	.	739	Q63HK5	TSH3_HUMAN	T	739	ENSP00000240587:P739T	ENSP00000240587:P739T	P	-	1	0	TSHZ3	36460324	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.441000	0.97557	2.501000	0.84356	0.655000	0.94253	CCC		0.617	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		43	90	1	0	6.45866e-13	1	7.33327e-13	43	90					T	31768484	G	T	31768484	3	4	14	1	0	0	0	0	1	0	0	0	16640	1203	42	5	1034	5	TSHZ3	19	31768484	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	16011877	31768484	27360499	64	1009										
CYP2A7	1549	broad.mit.edu	37	chr19	41386411	41386411	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	gctccggatggcctcgatgaGgaagcccgactcctcctgga	13	14	0	1			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:41386411G>T	ENST00000301146.4	-	3	1007	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	CYP2A7_ENST00000291764.3_Missense_Mutation_p.L105I|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	156						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)			GCCTCGATGAGGAAGCCCGAC	0.667																																						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.(466-468)Ctc>Atc		cytochrome P450, family 2, subfamily A, polypeptide 7							52	48	50					19																	41386411		2203	4300	6503	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41386411G>T	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.466C>A	19.37:g.41386411G>T	ENSP00000301146:p.Leu156Ile		Somatic				CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.L105I	p.L156I	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	1007	-			156					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.466C>A	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	g	14.49	2.551202	0.45383	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.75050	-0.9;-0.9	2.22	-0.358	0.12575	.	0.083439	0.48767	U	0.000171	T	0.81522	0.4840	M	0.78456	2.415	0.09310	N	1	D;D;P	0.76494	0.998;0.999;0.936	D;D;D	0.75484	0.986;0.953;0.962	T	0.70985	-0.4723	10	0.87932	D	0	.	6.0063	0.19549	0.4101:0.0:0.5899:0.0	.	156;105;156	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	I	156;105	ENSP00000301146:L156I;ENSP00000291764:L105I	ENSP00000291764:L105I	L	-	1	0	CYP2A7	46078251	0.195000	0.23338	0.001000	0.08648	0.014000	0.08584	0.249000	0.18216	-0.148000	0.11234	0.195000	0.17529	CTC		0.667	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		11	105	1	0	2.80697e-09	1	3.0596e-09	11	105					T	41386411	G	T	41386411	3	4	14	1	0	0	0	0	1	0	0	0	4165	1000	35	5	1046	5	CYP2A7	19	41386411	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	9617927	41386411	17742572	65	1010										
ZC3H4	23211	broad.mit.edu	37	chr19	47572491	47572491	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	gggacaccggcgcctggcttCggccggcctgggggccctcc	17	17	0	0			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:47572491C>A	ENST00000253048.5	-	14	2293	c.2256G>T	c.(2254-2256)ccG>ccT	p.P752P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	752							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)		CGCCTGGCTTCGGCCGGCCTG	0.677																																						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.(2254-2256)ccG>ccT		zinc finger CCCH-type containing 4							27	32	31					19																	47572491		1922	4110	6032	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47572491C>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.2256G>T	19.37:g.47572491C>A			Somatic				ZC3H4_ENST00000594019.1_Intron	p.P752P	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)	14	2293	-		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)	752					Q9Y420	Silent	SNP	ENST00000253048.5	37	c.2256G>T	CCDS42582.1																																																																																				0.677	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			5	51	1	0	0.184627	1	0.184627	5	51					A	47572491	C	A	47572491	2	1	14	1	0	0	0	0	0	0	0	1	17585	871	31	2		2	ZC3H4	19	47572491	Silent	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08	6186080	47572491	11556492	66	1011										
ZNF446	55663	broad.mit.edu	37	chr19	58991357	58991357	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	gctggggatgctgctcacggGgacaggcgtctgcagaagcc	17	11	2	1			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:58991357G>A	ENST00000594369.1	+	6	1154	c.773G>A	c.(772-774)gGg>gAg	p.G258E	ZNF446_ENST00000596341.1_Missense_Mutation_p.G258E|ZNF446_ENST00000335841.4_Missense_Mutation_p.G230R	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	258					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|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(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		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)		CTGCTCACGGGGACAGGCGTC	0.657																																						ENST00000596341.1																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(772-774)gGg>gAg		zinc finger protein 446							11	13	12					19																	58991357		2181	4273	6454	SO:0001583	missense	55663				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58991357G>A		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"Zinc fingers, C2H2-type", "-", "-", "-"	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.773G>A	19.37:g.58991357G>A	ENSP00000472802:p.Gly258Glu		Somatic				ZNF446_ENST00000594369.1_Missense_Mutation_p.G258E|ZNF446_ENST00000335841.4_Missense_Mutation_p.G230R	p.G258E			WXS	Illumina GAIIx	Phase_I	Q9NWS9	ZN446_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	6	2993	+		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)	258						Missense_Mutation	SNP	ENST00000594369.1	37	c.773G>A	CCDS12982.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147801	0.37923	.	.	ENSG00000083838	ENST00000335841;ENST00000540481;ENST00000391694	.	.	.	3.15	2.06	0.26882	.	0.866781	0.09399	N	0.807523	T	0.16128	0.0388	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.30416	-0.9979	9	0.14656	T	0.56	-14.7832	5.2114	0.15318	0.1805:0.0:0.8195:0.0	.	258	Q9NWS9	ZN446_HUMAN	E	258;258;155	.	ENSP00000336565:G258E	G	+	2	0	ZNF446	63683169	0.151000	0.22747	0.002000	0.10522	0.003000	0.03518	2.339000	0.43965	0.810000	0.34279	0.655000	0.94253	GGG		0.657	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1	NM_017908		11	5	0	0	0	1	0	11	5					A	58991357	G	A	58991357	3	1	14	1	0	0	0	0	1	0	0	0	17934	1232	43	3	791	3	ZNF446	19	58991357	Missense_Mutation	SNP	G	TCGA-N5-A59F-01A-11D-A28R-08	11418866	58991357	137626	67	1012										
CST5	1473	broad.mit.edu	37	chr20	23856835	23856835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	gcacagacccctagactttcCggcacttgtagttcagaatg	9	12	1	3	rs146272783	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr20:23856835C>T	ENST00000304710.4	-	3	492	c.419G>A	c.(418-420)cGg>cAg	p.R140Q		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	140					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						CTAGACTTTCCGGCACTTGTA	0.527													c|||	19	0.00379393	0.0129	0.0029	5008	,	,		15716	0		0	False		,,,				2504	0					ENST00000304710.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(418-420)cGg>cAg		cystatin D		C	GLN/ARG	35,4371	40.0+/-72.8	0,35,2168	85	92	90		419	0.7	0	20	dbSNP_134	90	0,8600		0,0,4300	yes	missense	CST5	NM_001900.4	43	0,35,6468	TT,TC,CC		0.0,0.7944,0.2691	benign	140/143	23856835	35,12971	2203	4300	6503	SO:0001583	missense	1473					extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr20:23856835C>T		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.419G>A	20.37:g.23856835C>T	ENSP00000307132:p.Arg140Gln		Somatic					p.R140Q	NM_001900.4	NP_001891.2	WXS	Illumina GAIIx	Phase_I	P28325	CYTD_HUMAN			3	492	-			140					Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	37	c.419G>A	CCDS13162.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	0.012	-1.658515	0.00779	0.007944	0.0	ENSG00000170367	ENST00000304710	T	0.09350	2.99	2.01	0.723	0.18231	Proteinase inhibitor I25, cystatin (1);	1.246430	0.05693	N	0.592517	T	0.02380	0.0073	N	0.03209	-0.39	0.09310	N	1	B	0.18310	0.027	B	0.06405	0.002	T	0.36359	-0.9751	10	0.02654	T	1	.	3.4257	0.07409	0.0:0.2966:0.0:0.7034	.	140	P28325	CYTD_HUMAN	Q	140	ENSP00000307132:R140Q	ENSP00000307132:R140Q	R	-	2	0	CST5	23804835	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.016000	0.13377	0.159000	0.19401	0.448000	0.29417	CGG		0.527	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		52	69	0	0	0	1	0	52	69					T	23856835	C	T	23856835	3	4	14	1	0	0	0	0	1	0	0	0	3977	652	23	1	13	1	CST5	20	23856835	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08		23856835	39168685	68	1013										
DHX35	60625	broad.mit.edu	37	chr20	37634873	37634873	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	actgtggctttgtgaaactcCgagcctacaatcccaggaca	9	12	0	1	rs199985100		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr20:37634873C>A	ENST00000252011.3	+	12	1129	c.1096C>A	c.(1096-1098)Cga>Aga	p.R366R	DHX35_ENST00000373325.2_Silent_p.R366R|DHX35_ENST00000373323.4_Silent_p.R335R	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	366	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)	p.R366R(1)		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)				TGTGAAACTCCGAGCCTACAA	0.532																																						ENST00000252011.3																			1	Substitution - coding silent(1)	p.R366R(1)	lung(1)	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.(1096-1098)Cga>Aga		DEAH (Asp-Glu-Ala-His) box polypeptide 35							288	275	279					20																	37634873		2203	4300	6503	SO:0001819	synonymous_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37634873C>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.1096C>A	20.37:g.37634873C>A			Somatic				DHX35_ENST00000373325.2_Silent_p.R366R|DHX35_ENST00000373323.4_Silent_p.R335R	p.R366R	NM_021931.3	NP_068750.2	WXS	Illumina GAIIx	Phase_I	Q9H5Z1	DHX35_HUMAN			12	1129	+		Myeloproliferative disorder(115;0.00878)	366			Helicase C-terminal.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	ENST00000252011.3	37	c.1096C>A	CCDS13310.1																																																																																				0.532	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		102	558	1	0	6.97839e-76	1	8.26788e-76	102	558					A	37634873	C	A	37634873	2	1	14	1	0	0	0	0	0	0	0	1	4510	644	23	5		5	DHX35	20	37634873	Silent	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08	13778038	37634873	25390647	69	1014										
MYH9	4627	broad.mit.edu	37	chr22	36696961	36696961	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	ggcagcgctcctcctcctccTccaccctggcctctaggtca	8	20	2	0			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr22:36696961T>A	ENST00000216181.5	-	22	3004	c.2774A>T	c.(2773-2775)gAg>gTg	p.E925V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	925					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						CTCCTCCTCCTCCACCCTGGC	0.647			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.(2773-2775)gAg>gTg		myosin, heavy chain 9, non-muscle							73	80	78					22																	36696961		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.chr22:36696961T>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.2774A>T	22.37:g.36696961T>A	ENSP00000216181:p.Glu925Val		Somatic					p.E925V	NM_002473.4	NP_002464.1	WXS	Illumina GAIIx	Phase_I	P35579	MYH9_HUMAN			22	3004	-			925					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.2774A>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.993641	0.93167	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.75589	-0.95	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.87454	0.6181	H	0.96175	3.78	0.80722	D	1	P	0.50819	0.939	P	0.52066	0.689	D	0.91559	0.5263	10	0.87932	D	0	.	15.352	0.74396	0.0:0.0:0.0:1.0	.	925	P35579	MYH9_HUMAN	V	789;925	ENSP00000216181:E925V	ENSP00000216181:E925V	E	-	2	0	MYH9	35026907	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	8.040000	0.89188	2.104000	0.64026	0.533000	0.62120	GAG		0.647	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		4	126	0	0	0	1	0	4	126					A	36696961	T	A	36696961	3	1	14	1	0	0	0	0	1	0	0	0	10051	1551	54	4	3188	4	MYH9	22	36696961	Missense_Mutation	SNP	T	TCGA-N5-A59F-01A-11D-A28R-08		36696961	14607605	70	1015										
PABPC5	140886	broad.mit.edu	37	chrX	90690676	90690676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0422535211267606	3	1	0.60975937626025	1.2485549132948	0.485549132947977	1	1	0	cagatgtcaccgaggacatgCtctataagaagttcaggcct	10	10	3	2			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chrX:90690676C>T	ENST00000312600.3	+	2	314	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F	PABPC5_ENST00000373105.1_Intron|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	34	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CGAGGACATGCTCTATAAGAA	0.572																																						ENST00000312600.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(100-102)Ctc>Ttc		poly(A) binding protein, cytoplasmic 5							63	48	53					X																	90690676		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90690676C>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.100C>T	X.37:g.90690676C>T	ENSP00000308012:p.Leu34Phe		Somatic				PABPC5_ENST00000373105.1_Intron	p.L34F	NM_080832.2	NP_543022.1	WXS	Illumina GAIIx	Phase_I	Q96DU9	PABP5_HUMAN			2	314	+			34			RRM 1.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.100C>T	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910024	0.52439	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.45276	0.9	4.43	0.596	0.17496	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.67933	0.2946	M	0.92077	3.27	0.49582	D	0.999801	D	0.89917	1.0	D	0.91635	0.999	T	0.71341	-0.4622	10	0.87932	D	0	.	10.7817	0.46382	0.0:0.8725:0.0:0.1275	.	34	Q96DU9	PABP5_HUMAN	F	34;2	ENSP00000308012:L34F	ENSP00000308012:L34F	L	+	1	0	PABPC5	90577332	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	1.392000	0.34486	-0.027000	0.13873	0.600000	0.82982	CTC		0.572	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		16	15	0	0	0	1	0	16	15					T	90690676	C	T	90690676	3	4	14	1	0	0	0	0	1	0	0	0	11376	797	28	3	102	3	PABPC5	23	90690676	Missense_Mutation	SNP	C	TCGA-N5-A59F-01A-11D-A28R-08		90690676	64579884	71	1016										
MTOR	2475	broad.mit.edu	37	chr1	11199368	11199368	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	ttgggatacagaccttgcggGcactcttccacatgtttttc	9	11	1	1			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr1:11199368G>A	ENST00000361445.4	-	36	5199	c.5123C>T	c.(5122-5124)gCc>gTc	p.A1708V	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1708	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)	GACCTTGCGGGCACTCTTCCA	0.507																																						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.(5122-5124)gCc>gTc		mechanistic target of rapamycin (serine/threonine kinase)							194	192	193					1																	11199368		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.chr1:11199368G>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.5123C>T	1.37:g.11199368G>A	ENSP00000354558:p.Ala1708Val		Somatic				MTOR_ENST00000495435.1_5'UTR	p.A1708V	NM_004958.3	NP_004949.1	WXS	Illumina GAIIx	Phase_I	P42345	MTOR_HUMAN			36	5199	-			1708			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.5123C>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748551	0.49257	.	.	ENSG00000198793	ENST00000361445	T	0.67171	-0.25	5.91	5.91	0.95273	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.283502	0.40222	N	0.001158	T	0.58061	0.2096	N	0.19112	0.55	0.80722	D	1	B	0.19583	0.037	B	0.22152	0.038	T	0.54741	-0.8248	10	0.87932	D	0	-13.0658	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1708	P42345	MTOR_HUMAN	V	1708	ENSP00000354558:A1708V	ENSP00000354558:A1708V	A	-	2	0	MTOR	11121955	0.978000	0.34361	0.036000	0.18154	0.477000	0.33069	6.113000	0.71553	2.793000	0.96121	0.655000	0.94253	GCC		0.507	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		4	116	0	0	0	1	0	4	116					A	11199368	G	A	11199368	3	1	15	1	0	0	0	0	1	0	0	0	9963	1203	42	3	2618	3	MTOR	1	11199368	Missense_Mutation	SNP	G	TCGA-N6-A4V9-01A-11D-A28R-08		11199368	238051253	1	1017										
FAM102B	284611	broad.mit.edu	37	chr1	109171385	109171385	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	agatgacattgtagagaaaaTattacaaagtcaagacttca	7	5	2	4			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr1:109171385T>A	ENST00000370035.3	+	9	1269	c.929T>A	c.(928-930)aTa>aAa	p.I310K	FAM102B_ENST00000405454.1_Missense_Mutation_p.I310K	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	310										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)		GTAGAGAAAATATTACAAAGT	0.408																																						ENST00000370035.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5						c.(928-930)aTa>aAa		family with sequence similarity 102, member B							89	80	83					1																	109171385		2203	4300	6503	SO:0001583	missense	284611							g.chr1:109171385T>A	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"sym-3 homolog B (C. elegans)"						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.929T>A	1.37:g.109171385T>A	ENSP00000359052:p.Ile310Lys		Somatic				FAM102B_ENST00000405454.1_Missense_Mutation_p.I310K	p.I310K	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)	9	1269	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	310					A1L1A1|B0QZ46|B0QZ47|Q68DH7	Missense_Mutation	SNP	ENST00000370035.3	37	c.929T>A	CCDS30786.2	.	.	.	.	.	.	.	.	.	.	T	28.5	4.926630	0.92319	.	.	ENSG00000162636	ENST00000370035;ENST00000405454;ENST00000437902	T;T	0.61274	0.12;0.12	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.74076	0.3669	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.79130	-0.1930	10	0.87932	D	0	-21.8579	16.2421	0.82418	0.0:0.0:0.0:1.0	.	310	Q5T8I3	F102B_HUMAN	K	310	ENSP00000359052:I310K;ENSP00000386084:I310K	ENSP00000359052:I310K	I	+	2	0	FAM102B	108972908	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.698000	0.84413	2.234000	0.73211	0.533000	0.62120	ATA		0.408	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883		21	39	0	0	0	1	0	21	39					A	109171385	T	A	109171385	3	1	15	1	0	0	0	0	1	0	0	0	5388	1406	49	4	963	4	FAM102B	1	109171385	Missense_Mutation	SNP	T	TCGA-N6-A4V9-01A-11D-A28R-08	97972017	109171385	140079236	2	1018										
OBSCN	84033	broad.mit.edu	37	chr1	228557666	228557666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	gacctgctcatccccatttgCcggcgagagtgaccgtgcca	11	15	1	2			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr1:228557666C>T	ENST00000422127.1	+	91	20035	c.19991C>T	c.(19990-19992)gCc>gTc	p.A6664V	OBSCN_ENST00000570156.2_Missense_Mutation_p.A7621V|OBSCN_ENST00000366707.4_Missense_Mutation_p.A4298V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6664	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCCCATTTGCCGGCGAGAGT	0.632																																						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.(22861-22863)gCc>gTc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							70	72	71					1																	228557666		2037	4186	6223	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.chr1:228557666C>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.19991C>T	1.37:g.228557666C>T	ENSP00000409493:p.Ala6664Val		Somatic				OBSCN_ENST00000366707.4_Missense_Mutation_p.A4298V|OBSCN_ENST00000422127.1_Missense_Mutation_p.A6664V	p.A7621V	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			102	22936	+		Prostate(94;0.0405)	6664			Fibronectin type-III 4.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.22862C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841748	0.51057	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.66099	-0.19;-0.19	4.78	4.78	0.61160	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.57858	0.2082	L	0.33137	0.985	0.80722	D	1	P	0.48089	0.905	P	0.45794	0.493	T	0.63594	-0.6602	9	0.62326	D	0.03	.	16.174	0.81840	0.0:1.0:0.0:0.0	.	6664	Q5VST9	OBSCN_HUMAN	V	6664;4298	ENSP00000409493:A6664V;ENSP00000355668:A4298V	ENSP00000355668:A4298V	A	+	2	0	OBSCN	226624289	0.988000	0.35896	0.804000	0.32291	0.141000	0.21300	2.536000	0.45693	2.495000	0.84180	0.455000	0.32223	GCC		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	124	0	0	0	1	0	4	124					T	228557666	C	T	228557666	3	4	15	1	0	0	0	0	1	0	0	0	10821	739	26	3	21559	3	OBSCN	1	228557666	Missense_Mutation	SNP	C	TCGA-N6-A4V9-01A-11D-A28R-08	119386281	228557666	20692955	3	1019										
PLA2R1	22925	broad.mit.edu	37	chr2	160918876	160918878	+	In_Frame_Del	DEL	CAG	CAG	-													0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	gcgcagccccgcggcgccccCagcagcagcagcagcagcag							TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr2:160918876_160918878delCAG	ENST00000283243.7	-	1	243_245	c.37_39delCTG	c.(37-39)ctgdel	p.L13del	PLA2R1_ENST00000392771.1_In_Frame_Del_p.L13del	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	13					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GCGGCGCCCCcagcagcagcagc	0.729																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(37-39)del		phospholipase A2 receptor 1, 180kDa			,,	16,82,2566		4,0,8,17,48,1255					,,	-3.1	0			4	2,158,4972		0,1,1,22,113,2429	no	codingComplex,codingComplex,codingComplex	PLA2R1	NM_007366.4,NM_001195641.1,NM_001007267.2	,,	4,1,9,39,161,3684	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1177,3.6787,3.3094	,,	,,		18,240,7538				SO:0001651	inframe_deletion	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160918876_160918878delCAG	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.37_39delCTG	2.37:g.160918885_160918887delCAG	ENSP00000283243:p.Leu13del		Somatic				PLA2R1_ENST00000392771.1_In_Frame_Del_p.L13del	p.L13del	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	WXS	Illumina GAIIx	Phase_I	Q13018	PLA2R_HUMAN			1	243_245	-			13					B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	In_Frame_Del	DEL	ENST00000283243.7	37	c.37_39delCTG	CCDS33309.1																																																																																				0.729	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			3	5						3	5	---	---	---	---	-	160918878	CAG	-	160918876	7	5	15	1	0	1	0	1	0	0	0	0	12019	581	21	0	4480	0	PLA2R1	2	160918876	In_Frame_Del	DEL	CAG	TCGA-N6-A4V9-01A-11D-A28R-08		160918876	82280497	4	1020										
SCN3A	6328	broad.mit.edu	37	chr2	165969452	165969452	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	gtgaaatatgtttgaaatccAtaagcaacccatttgagaag	8	6	0	3			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr2:165969452A>T	ENST00000360093.3	-	21	4277	c.3786T>A	c.(3784-3786)taT>taA	p.Y1262*	SCN3A_ENST00000283254.7_Nonsense_Mutation_p.Y1262*|SCN3A_ENST00000409101.3_Nonsense_Mutation_p.Y1213*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1262					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTGAAATCCATAAGCAACCC	0.318																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(3784-3786)taT>taA		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						174	192	186					2																	165969452		2203	4297	6500	SO:0001587	stop_gained	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165969452A>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.3786T>A	2.37:g.165969452A>T	ENSP00000353206:p.Tyr1262*		Somatic				SCN3A_ENST00000409101.3_Nonsense_Mutation_p.Y1213*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.Y1262*	p.Y1262*	NM_001081677.1	NP_001075146.1	WXS	Illumina GAIIx	Phase_I	Q9NY46	SCN3A_HUMAN			21	4277	-			1262					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Nonsense_Mutation	SNP	ENST00000360093.3	37	c.3786T>A		.	.	.	.	.	.	.	.	.	.	A	46	12.817879	0.99698	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	.	.	.	5.62	5.62	0.85841	.	0.000000	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8159	0.78599	1.0:0.0:0.0:0.0	.	.	.	.	X	1262;1262;1213;1213	.	ENSP00000283254:Y1262X	Y	-	3	2	SCN3A	165677698	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.406000	0.44557	2.133000	0.65898	0.482000	0.46254	TAT		0.318	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		114	112	0	0	0	1	0	114	112					T	165969452	A	T	165969452	4	4	15	1	0	0	0	0	0	1	0	0	13933	224	8	4	2248	4	SCN3A	2	165969452	Nonsense_Mutation	SNP	A	TCGA-N6-A4V9-01A-11D-A28R-08	5050576	165969452	77229921	5	1021										
CRYGC	1420	broad.mit.edu	37	chr2	208994374	208994374	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	agtggtggtttcgtagctgcGgccctggaaggccctgtcct	15	11	0	0			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr2:208994374G>C	ENST00000282141.3	-	2	80	c.43C>G	c.(43-45)Cgc>Ggc	p.R15G		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	15	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TCGTAGCTGCGGCCCTGGAAG	0.522																																						ENST00000282141.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(43-45)Cgc>Ggc		crystallin, gamma C							129	141	137					2																	208994374		2203	4300	6503	SO:0001583	missense	1420				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	g.chr2:208994374G>C		CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.43C>G	2.37:g.208994374G>C	ENSP00000282141:p.Arg15Gly		Somatic					p.R15G	NM_020989.3	NP_066269.1	WXS	Illumina GAIIx	Phase_I	P07315	CRGC_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	2	80	-			15			Beta/gamma crystallin 'Greek key' 1.		Q53R50	Missense_Mutation	SNP	ENST00000282141.3	37	c.43C>G	CCDS2379.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602811	0.66445	.	.	ENSG00000163254	ENST00000282141	T	0.78246	-1.16	4.98	4.98	0.66077	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.92443	0.7601	H	0.98542	4.26	0.80722	D	1	D	0.63880	0.993	D	0.67382	0.951	D	0.95220	0.8333	10	0.87932	D	0	.	16.1101	0.81259	0.0:0.0:1.0:0.0	.	15	P07315	CRGC_HUMAN	G	15	ENSP00000282141:R15G	ENSP00000282141:R15G	R	-	1	0	CRYGC	208702619	0.997000	0.39634	1.000000	0.80357	0.338000	0.28826	4.785000	0.62418	2.468000	0.83385	0.462000	0.41574	CGC		0.522	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256474.1	NM_020989		6	306	0	0	0	1	0	6	306					C	208994374	G	C	208994374	3	2	15	1	0	0	0	0	1	0	0	0	3918	1116	39	5	489	5	CRYGC	2	208994374	Missense_Mutation	SNP	G	TCGA-N6-A4V9-01A-11D-A28R-08	43024922	208994374	34204999	6	1022										
PLCL2	23228	broad.mit.edu	37	chr3	17051510	17051510	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	ttttccgtcatatatggagaGaattatgagtcactggattt	9	5	2	2			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr3:17051510G>T	ENST00000418129.2	+	2	759	c.294G>T	c.(292-294)gaG>gaT	p.E98D	PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000432376.1_Missense_Mutation_p.E98D|PLCL2_ENST00000396755.2_Missense_Mutation_p.E98D	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	224					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)	p.E98D(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TATATGGAGAGAATTATGAGT	0.418																																						ENST00000418129.2																			1	Substitution - Missense(1)	p.E98D(1)	large_intestine(1)	breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(292-294)gaG>gaT		phospholipase C-like 2							121	121	121					3																	17051510		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.chr3:17051510G>T	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.294G>T	3.37:g.17051510G>T	ENSP00000409637:p.Glu98Asp		Somatic				PLCL2_ENST00000432376.1_Missense_Mutation_p.E98D|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.E98D	p.E98D	NM_001144382.1	NP_001137854.1	WXS	Illumina GAIIx	Phase_I	Q9UPR0	PLCL2_HUMAN			2	759	+			224					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.294G>T	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.226413	0.01518	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.61510	0.1;0.1;0.1	5.33	1.98	0.26296	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.045321	0.85682	D	0.000000	T	0.31918	0.0812	.	.	.	0.45867	D	0.998722	B;B	0.06786	0.001;0.001	B;B	0.12156	0.005;0.007	T	0.05338	-1.0891	9	0.10111	T	0.7	.	5.2822	0.15682	0.368:0.0:0.5014:0.1305	.	224;98	Q9UPR0;Q9UPR0-2	PLCL2_HUMAN;.	D	98;225;98;98	ENSP00000409637:E98D;ENSP00000379979:E98D;ENSP00000412836:E98D	ENSP00000285094:E225D	E	+	3	2	PLCL2	17026514	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	1.019000	0.30014	0.402000	0.25451	-0.258000	0.10820	GAG		0.418	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			16	87	1	0	1.15088e-07	1	1.25945e-07	16	87					T	17051510	G	T	17051510	3	4	15	1	0	0	0	0	1	0	0	0	12049	933	33	2	672	2	PLCL2	3	17051510	Missense_Mutation	SNP	G	TCGA-N6-A4V9-01A-11D-A28R-08		17051510	180970920	7	1023										
LARS2	23395	broad.mit.edu	37	chr3	45583357	45583357	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	gaggaagctctgtgcccactAcacttgggatgccagtgtgc	13	11	1	0			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr3:45583357A>T	ENST00000415258.1	+	20	2582	c.2441A>T	c.(2440-2442)tAc>tTc	p.Y814F	LARS2_ENST00000414984.1_Missense_Mutation_p.Y771F|LARS2_ENST00000265537.3_Missense_Mutation_p.Y814F			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	814					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)	TGTGCCCACTACACTTGGGAT	0.597																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(2440-2442)tAc>tTc		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						76	65	69					3																	45583357		2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45583357A>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.2441A>T	3.37:g.45583357A>T	ENSP00000408576:p.Tyr814Phe		Somatic				LARS2_ENST00000414984.1_Missense_Mutation_p.Y771F|LARS2_ENST00000265537.3_Missense_Mutation_p.Y814F	p.Y814F			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)	20	2582	+			814						Missense_Mutation	SNP	ENST00000415258.1	37	c.2441A>T	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.989328	0.35131	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.13196	2.61;2.61;2.61	5.67	5.67	0.87782	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.280120	0.36268	N	0.002692	T	0.16938	0.0407	L	0.47716	1.5	0.32521	N	0.536256	P;P	0.43231	0.801;0.801	B;B	0.40741	0.339;0.339	T	0.10989	-1.0606	10	0.87932	D	0	-20.4508	15.9098	0.79463	1.0:0.0:0.0:0.0	.	771;814	E9PHM2;Q15031	.;SYLM_HUMAN	F	814;814;771	ENSP00000265537:Y814F;ENSP00000408576:Y814F;ENSP00000412893:Y771F	ENSP00000265537:Y814F	Y	+	2	0	LARS2	45558361	1.000000	0.71417	0.753000	0.31225	0.323000	0.28346	6.783000	0.75078	2.158000	0.67659	0.455000	0.32223	TAC		0.597	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		3	38	0	0	0	1	0	3	38					T	45583357	A	T	45583357	3	4	15	1	0	0	0	0	1	0	0	0	8644	391	14	4	2515	4	LARS2	3	45583357	Missense_Mutation	SNP	A	TCGA-N6-A4V9-01A-11D-A28R-08	28531847	45583357	152439073	8	1024										
CEP70	80321	broad.mit.edu	37	chr3	138290180	138290180	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	caatagcacatttatgctttCccattctgcttcttcctgct	4	13	2	0			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr3:138290180C>A	ENST00000264982.3	-	4	354	c.88G>T	c.(88-90)Gaa>Taa	p.E30*	CEP70_ENST00000484888.1_Nonsense_Mutation_p.E30*|CEP70_ENST00000464035.1_Nonsense_Mutation_p.E30*|CEP70_ENST00000542237.1_Nonsense_Mutation_p.E10*|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000481834.1_Nonsense_Mutation_p.E30*	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	30					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTTATGCTTTCCCATTCTGCT	0.328																																						ENST00000264982.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						c.(88-90)Gaa>Taa		centrosomal protein 70kDa							76	74	75					3																	138290180		2201	4296	6497	SO:0001587	stop_gained	80321				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr3:138290180C>A	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.88G>T	3.37:g.138290180C>A	ENSP00000264982:p.Glu30*		Somatic				CEP70_ENST00000542237.1_Nonsense_Mutation_p.E10*|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000484888.1_Nonsense_Mutation_p.E30*|CEP70_ENST00000481834.1_Nonsense_Mutation_p.E30*|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000464035.1_Nonsense_Mutation_p.E30*	p.E30*	NM_024491.2	NP_077817.2	WXS	Illumina GAIIx	Phase_I	Q8NHQ1	CEP70_HUMAN			4	354	-			30					B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Nonsense_Mutation	SNP	ENST00000264982.3	37	c.88G>T	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575152	0.65878	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000484888;ENST00000474781;ENST00000481834;ENST00000468900;ENST00000462419;ENST00000464035;ENST00000470159	.	.	.	4.99	3.18	0.36537	.	0.114925	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.8388	6.762	0.23546	0.0:0.7271:0.1783:0.0946	.	.	.	.	X	30;10;30;12;30;9;10;30;30	.	ENSP00000264982:E30X	E	-	1	0	CEP70	139772870	1.000000	0.71417	0.990000	0.47175	0.253000	0.25986	2.597000	0.46214	0.675000	0.31264	-0.882000	0.02950	GAA		0.328	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491		3	27	1	0	0.115264	1	0.117286	3	27					A	138290180	C	A	138290180	4	1	15	1	0	0	0	0	0	1	0	0	3261	864	30	2	1765	2	CEP70	3	138290180	Nonsense_Mutation	SNP	C	TCGA-N6-A4V9-01A-11D-A28R-08	92706823	138290180	59732250	9	1025										
AREG	374	broad.mit.edu	37	chr4	75312484	75312484	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	aaatacctggctatattgtcGatgattcagtcagaggtgag	11	6	2	3			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr4:75312484G>C	ENST00000395748.3	+	2	507	c.295G>C	c.(295-297)Gat>Cat	p.D99H	AREG_ENST00000502307.1_Missense_Mutation_p.D99H|AREG_ENST00000264487.2_Missense_Mutation_p.D99H	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	99					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|G-protein coupled receptor signaling pathway (GO:0007186)|glial cell proliferation (GO:0014009)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in thelarche (GO:0060744)|negative regulation of osteoblast differentiation (GO:0045668)|neuron projection development (GO:0031175)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of phosphorylation (GO:0042327)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to peptide hormone (GO:0043434)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	growth factor activity (GO:0008083)			lung(4)	4			Lung(101;0.196)			CTATATTGTCGATGATTCAGT	0.448																																						ENST00000395748.3																			0				lung(4)	4						c.(295-297)Gat>Cat		amphiregulin							113	128	123					4																	75312484		2200	4298	6498	SO:0001583	missense	374				cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity	g.chr4:75312484G>C	M30704	CCDS3565.1	4q13.3	2014-06-19	2008-08-01		ENSG00000109321	ENSG00000109321		"Endogenous ligands"	651	protein-coding gene	gene with protein product		104640	"schwannoma-derived growth factor", "amphiregulin B"	SDGF, AREGB			Standard	NM_001657		Approved		uc021xpc.1	P15514	OTTHUMG00000130006	ENST00000395748.3:c.295G>C	4.37:g.75312484G>C	ENSP00000379097:p.Asp99His		Somatic				AREG_ENST00000502307.1_Missense_Mutation_p.D99H|AREG_ENST00000264487.2_Missense_Mutation_p.D99H	p.D99H	NM_001657.2	NP_001648.1	WXS	Illumina GAIIx	Phase_I	P15514	AREG_HUMAN	Lung(101;0.196)		2	507	+			99					Q5U026	Missense_Mutation	SNP	ENST00000395748.3	37	c.295G>C	CCDS3565.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846514	0.51164	.	.	ENSG00000109321	ENST00000395748;ENST00000264487;ENST00000502307	T;T;T	0.17528	2.27;2.27;2.44	5.23	5.23	0.72850	.	0.389678	0.28659	N	0.014570	T	0.42607	0.1210	M	0.76574	2.34	0.37372	D	0.91166	D	0.89917	1.0	D	0.91635	0.999	T	0.48681	-0.9014	10	0.72032	D	0.01	-37.9977	14.6651	0.68901	0.0:0.0:1.0:0.0	.	99	P15514	AREG_HUMAN	H	99	ENSP00000379097:D99H;ENSP00000264487:D99H;ENSP00000421414:D99H	ENSP00000264487:D99H	D	+	1	0	AREG	75531348	1.000000	0.71417	0.969000	0.41365	0.377000	0.30045	5.215000	0.65241	2.602000	0.87976	0.557000	0.71058	GAT		0.448	AREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252277.1			33	108	0	0	0	1	0	33	108					C	75312484	G	C	75312484	3	2	15	1	0	0	0	0	1	0	0	0	843	1058	37	2	301	2	AREG	4	75312484	Missense_Mutation	SNP	G	TCGA-N6-A4V9-01A-11D-A28R-08		75312484	115841792	10	1026										
DAB2	1601	broad.mit.edu	37	chr5	39377323	39377323	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	ggagccattgaaggggactgAttgaagaccaaagatgctgt	14	6	0	5			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:39377323A>G	ENST00000320816.6	-	12	2033	c.1566T>C	c.(1564-1566)aaT>aaC	p.N522N	DAB2_ENST00000509337.1_Silent_p.N501N|DAB2_ENST00000339788.6_Silent_p.N304N|DAB2_ENST00000545653.1_Silent_p.N501N	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	522					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)			AAGGGGACTGATTGAAGACCA	0.483																																						ENST00000320816.6																			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.(1564-1566)aaT>aaC		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							91	89	90					5																	39377323		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:39377323A>G	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.1566T>C	5.37:g.39377323A>G			Somatic				DAB2_ENST00000509337.1_Silent_p.N501N|DAB2_ENST00000545653.1_Silent_p.N501N|DAB2_ENST00000339788.6_Silent_p.N304N	p.N522N	NM_001343.3	NP_001334.2	WXS	Illumina GAIIx	Phase_I	P98082	DAB2_HUMAN	Epithelial(62;0.137)		12	2033	-	all_lung(31;0.000197)		522					A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	c.1566T>C	CCDS34149.1																																																																																				0.483	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		54	64	0	0	0	1	0	54	64					G	39377323	A	G	39377323	2	3	15	1	0	0	0	0	0	0	0	1	4220	330	12	4		4	DAB2	5	39377323	Silent	SNP	A	TCGA-N6-A4V9-01A-11D-A28R-08		39377323	141537937	11	1027										
PLCXD3	345557	broad.mit.edu	37	chr5	41382479	41382479	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	taacgaattccagctcctagCtggccagtaaaattcattgt	7	10	1	0			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:41382479C>A	ENST00000377801.3	-	2	335	c.261G>T	c.(259-261)caG>caT	p.Q87H	PLCXD3_ENST00000328457.3_Missense_Mutation_p.Q87H			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	87	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CAGCTCCTAGCTGGCCAGTAA	0.443																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(259-261)caG>caT		phosphatidylinositol-specific phospholipase C, X domain containing 3							60	65	64					5																	41382479		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382479C>A		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.261G>T	5.37:g.41382479C>A	ENSP00000367032:p.Gln87His		Somatic				PLCXD3_ENST00000328457.3_Missense_Mutation_p.Q87H	p.Q87H			WXS	Illumina GAIIx	Phase_I	Q63HM9	PLCX3_HUMAN			2	335	-			87			PI-PLC X-box.		A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.261G>T	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591246	0.66219	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	T;T	0.64618	-0.11;-0.11	6.07	5.21	0.72293	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.000000	0.85682	D	0.000000	D	0.84502	0.5486	H	0.95004	3.61	0.80722	D	1	D	0.62365	0.991	D	0.75484	0.986	D	0.89027	0.3439	10	0.87932	D	0	-10.1406	15.1361	0.72566	0.0:0.9327:0.0:0.0673	.	87	Q63HM9	PLCX3_HUMAN	H	87	ENSP00000367032:Q87H;ENSP00000333751:Q87H	ENSP00000333751:Q87H	Q	-	3	2	PLCXD3	41418236	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.837000	0.27558	1.571000	0.49722	0.655000	0.94253	CAG		0.443	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		16	56	1	0	6.72482e-11	1	7.96e-11	16	56					A	41382479	C	A	41382479	3	1	15	1	0	0	0	0	1	0	0	0	12052	796	28	5	712	5	PLCXD3	5	41382479	Missense_Mutation	SNP	C	TCGA-N6-A4V9-01A-11D-A28R-08	2005156	41382479	139532781	12	1028										
RASGRF2	5924	broad.mit.edu	37	chr5	80390692	80390693	+	Frame_Shift_Del	DEL	GT	GT	-													0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	aagctaaaggttctgggcaaGtgtttgggcacctggatttt							TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:80390692_80390693delGT	ENST00000265080.4	+	12	1703_1704	c.1636_1637delGT	c.(1636-1638)gtgfs	p.V546fs		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	546	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		TTCTGGGCAAGTGTTTGGGCAC	0.436																																						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.(1636-1638)gfs		Ras protein-specific guanine nucleotide-releasing factor 2																																				SO:0001589	frameshift_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80390692_80390693delGT	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.1636_1637delGT	5.37:g.80390694_80390695delGT	ENSP00000265080:p.Val546fs		Somatic					p.V546fs	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)	12	1703_1704	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	546			PH 2.		B9EG89|Q9UK56	Frame_Shift_Del	DEL	ENST00000265080.4	37	c.1636_1637delGT	CCDS4052.1																																																																																				0.436	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		30	45						30	45	---	---	---	---	-	80390693	GT	-	80390692	7	5	15	1	0	1	0	1	0	0	0	0	13088	1029	36	0	1682	0	RASGRF2	5	80390692	Frame_Shift_Del	DEL	GT	TCGA-N6-A4V9-01A-11D-A28R-08	39008213	80390692	100524568	13	1029										
ANKRD43	134548	broad.mit.edu	37	chr5	132150842	132150842	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	caagttcttgagcgcctcgcCcatggctccacgtaaaaaga	9	13	1	2			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:132150842C>A	ENST00000378693.2	+	1	1810	c.1529C>A	c.(1528-1530)cCc>cAc	p.P510H	AC004775.5_ENST00000607389.1_lincRNA	NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	510																	AGCGCCTCGCCCATGGCTCCA	0.582																																						ENST00000378693.2																			0											c.(1528-1530)cCc>cAc		sosondowah ankyrin repeat domain family member A							43	48	47					5																	132150842		2203	4300	6503	SO:0001583	missense	134548							g.chr5:132150842C>A	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.1529C>A	5.37:g.132150842C>A	ENSP00000367965:p.Pro510His		Somatic					p.P510H	NM_175873.4	NP_787069.3	WXS	Illumina GAIIx	Phase_I	Q2M3V2	ANR43_HUMAN			1	1810	+			510					Q8NAE7	Missense_Mutation	SNP	ENST00000378693.2	37	c.1529C>A	CCDS43361.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742445	0.69418	.	.	ENSG00000198944	ENST00000378693	T	0.25414	1.8	6.15	6.15	0.99193	.	0.552403	0.16129	N	0.228298	T	0.53012	0.1770	M	0.62723	1.935	0.39876	D	0.973574	D	0.89917	1.0	D	0.75484	0.986	T	0.48281	-0.9049	10	0.72032	D	0.01	-26.3032	20.4338	0.99088	0.0:1.0:0.0:0.0	.	510	Q2M3V2	ANR43_HUMAN	H	510	ENSP00000367965:P510H	ENSP00000367965:P510H	P	+	2	0	ANKRD43	132178741	0.718000	0.27976	0.991000	0.47740	0.496000	0.33645	4.814000	0.62627	2.932000	0.99384	0.643000	0.83706	CCC		0.582	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		10	45	1	0	9.70103e-10	1	1.10325e-09	10	45					A	132150842	C	A	132150842	3	1	15	1	0	0	0	0	1	0	0	0	671	623	22	5	1531	5	ANKRD43	5	132150842	Missense_Mutation	SNP	C	TCGA-N6-A4V9-01A-11D-A28R-08	51760150	132150842	48764418	14	1030										
GABRA6	2559	broad.mit.edu	37	chr5	161128593	161128593	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	gaggccaataaagtgctcacGagagcgcccatcttacaatc	9	12	2	1			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:161128593G>T	ENST00000274545.5	+	9	1609	c.1176G>T	c.(1174-1176)acG>acT	p.T392T	GABRA6_ENST00000523217.1_Silent_p.T382T			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	392					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AAGTGCTCACGAGAGCGCCCA	0.463										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(1144-1146)acG>acT		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						111	106	108					5																	161128593		2203	4300	6503	SO:0001819	synonymous_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128593G>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1176G>T	5.37:g.161128593G>T		TCGA Ovarian(5;0.080)	Somatic				GABRA6_ENST00000274545.5_Silent_p.T392T	p.T382T	NM_000811.2	NP_000802.2	WXS	Illumina GAIIx	Phase_I	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1388	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	392					A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	c.1146G>T	CCDS4356.1																																																																																				0.463	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			9	90	1	0	9.70103e-10	1	1.10325e-09	9	90					T	161128593	G	T	161128593	2	4	15	1	0	0	0	0	0	0	0	1	6173	1045	37	2		2	GABRA6	5	161128593	Silent	SNP	G	TCGA-N6-A4V9-01A-11D-A28R-08	28977751	161128593	19786667	15	1031										
FBXO30	84085	broad.mit.edu	37	chr6	146127324	146127324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	gatgttcagcaactttatttCgggccatggtaaatggacat	10	7	1	0			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr6:146127324C>T	ENST00000237281.4	-	2	384	c.218G>A	c.(217-219)cGa>cAa	p.R73Q		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	73							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AACTTTATTTCGGGCCATGGT	0.418																																						ENST00000237281.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(217-219)cGa>cAa		F-box protein 30							234	217	223					6																	146127324		2203	4300	6503	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146127324C>T	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"F-boxes /  "other""	15600	protein-coding gene	gene with protein product		609101	"F-box only protein, helicase, 18"				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.218G>A	6.37:g.146127324C>T	ENSP00000237281:p.Arg73Gln		Somatic					p.R73Q	NM_032145.4	NP_115521.3	WXS	Illumina GAIIx	Phase_I	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	384	-		Ovarian(120;0.0776)	73					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.218G>A	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471356	0.84533	.	.	ENSG00000118496	ENST00000237281	T	0.29397	1.57	5.67	5.67	0.87782	Zinc finger, TRAF-type (1);TRAF-like (1);Seven In Absentia Homolog-type (1);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61603	-0.7029	10	0.87932	D	0	-10.9501	19.7586	0.96304	0.0:1.0:0.0:0.0	.	73	Q8TB52	FBX30_HUMAN	Q	73	ENSP00000237281:R73Q	ENSP00000237281:R73Q	R	-	2	0	FBXO30	146169017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.663000	0.90544	0.585000	0.79938	CGA		0.418	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			106	105	0	0	0	1	0	106	105					T	146127324	C	T	146127324	3	4	15	1	0	0	0	0	1	0	0	0	5748	884	31	1	2027	1	FBXO30	6	146127324	Missense_Mutation	SNP	C	TCGA-N6-A4V9-01A-11D-A28R-08		146127324	24987743	16	1032										
TULP4	56995	broad.mit.edu	37	chr6	158923393	158923393	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	gcagtggcaacgtggaggagGtgtgccggccccgcacccgg	18	13	0	0			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr6:158923393G>T	ENST00000367097.3	+	13	4055	c.2698G>T	c.(2698-2700)Gtg>Ttg	p.V900L	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	900					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)		CGTGGAGGAGGTGTGCCGGCC	0.642																																						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.(2698-2700)Gtg>Ttg		tubby like protein 4							71	75	73					6																	158923393		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923393G>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2698G>T	6.37:g.158923393G>T	ENSP00000356064:p.Val900Leu		Somatic				TULP4_ENST00000367094.2_Intron	p.V900L	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)	13	4055	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	900					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.2698G>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673417	0.88445	.	.	ENSG00000130338	ENST00000367097	T	0.69561	-0.41	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	M	0.65498	2.005	0.80722	D	1	D	0.65815	0.995	D	0.75020	0.985	T	0.80377	-0.1408	10	0.87932	D	0	-23.3113	18.5327	0.90999	0.0:0.0:1.0:0.0	.	900	Q9NRJ4	TULP4_HUMAN	L	900	ENSP00000356064:V900L	ENSP00000356064:V900L	V	+	1	0	TULP4	158843381	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.192000	0.77771	2.379000	0.81126	0.561000	0.74099	GTG		0.642	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		13	129	1	0	2.32078e-09	1	2.58857e-09	13	129					T	158923393	G	T	158923393	3	4	15	1	0	0	0	0	1	0	0	0	16791	1261	44	5	2748	5	TULP4	6	158923393	Missense_Mutation	SNP	G	TCGA-N6-A4V9-01A-11D-A28R-08	12796069	158923393	12191674	17	1033										
ABCA13	154664	broad.mit.edu	37	chr7	48411971	48411971	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	ctgagctacctcttgagtgcAtttttcagccaagctaatac	7	11	2	2			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr7:48411971A>G	ENST00000435803.1	+	33	11034	c.11010A>G	c.(11008-11010)gcA>gcG	p.A3670A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3670					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						TCTTGAGTGCATTTTTCAGCC	0.423																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11008-11010)gcA>gcG		ATP-binding cassette, sub-family A (ABC1), member 13							252	243	246					7																	48411971		2009	4196	6205	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48411971A>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11010A>G	7.37:g.48411971A>G			Somatic					p.A3670A	NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	Q86UQ4	ABCAD_HUMAN			33	11034	+			3670					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.11010A>G	CCDS47584.1																																																																																				0.423	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		89	96	0	0	0	1	0	89	96					G	48411971	A	G	48411971	2	3	15	1	0	0	0	0	0	0	0	1	31	204	8	4		4	ABCA13	7	48411971	Silent	SNP	A	TCGA-N6-A4V9-01A-11D-A28R-08		48411971	110726692	18	1034										
GRM3	2913	broad.mit.edu	37	chr7	86468807	86468807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	gctatctgttactcagccctGctgaccaagacaaactgcat	7	13	2	2			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr7:86468807G>A	ENST00000361669.2	+	4	3076	c.1977G>A	c.(1975-1977)ctG>ctA	p.L659L	GRM3_ENST00000536043.1_Silent_p.L531L|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.L251L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	659					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ACTCAGCCCTGCTGACCAAGA	0.527																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(1975-1977)ctG>ctA		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						148	134	139					7																	86468807		2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	integral to plasma membrane		g.chr7:86468807G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1977G>A	7.37:g.86468807G>A			Somatic				GRM3_ENST00000546348.1_Silent_p.L251L|GRM3_ENST00000536043.1_Silent_p.L531L|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron	p.L659L	NM_000840.2	NP_000831.2	WXS	Illumina GAIIx	Phase_I	Q14832	GRM3_HUMAN			4	3076	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		659					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.1977G>A	CCDS5600.1																																																																																				0.527	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			99	88	0	0	0	1	0	99	88					A	86468807	G	A	86468807	2	1	15	1	0	0	0	0	0	0	0	1	6807	1306	46	3		3	GRM3	7	86468807	Silent	SNP	G	TCGA-N6-A4V9-01A-11D-A28R-08	38056836	86468807	72669856	19	1035										
DLGAP2	9228	broad.mit.edu	37	chr8	1626408	1626408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	gttttaaacgttctaacagcGtcacggccgccgtccaagct	9	13	2	0	rs34274599		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:1626408G>A	ENST00000421627.2	+	9	2211	c.2077G>A	c.(2077-2079)Gtc>Atc	p.V693I		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	772					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)		TTCTAACAGCGTCACGGCCGC	0.557																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2077-2079)Gtc>Atc		discs, large (Drosophila) homolog-associated protein 2							53	58	56					8																	1626408		2091	4193	6284	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1626408G>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.2077G>A	8.37:g.1626408G>A	ENSP00000400258:p.Val693Ile		Somatic					p.V693I	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)	9	2211	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	772					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2077G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077811	0.94000	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.20738	2.05	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.50171	0.1600	M	0.81942	2.565	0.48135	D	0.999596	D;D	0.76494	0.999;0.999	D;D	0.72075	0.96;0.976	T	0.57619	-0.7780	10	0.72032	D	0.01	-13.8981	17.9665	0.89100	0.0:0.0:1.0:0.0	rs34274599	758;772	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	I	724;693	ENSP00000400258:V693I	ENSP00000348366:V724I	V	+	1	0	DLGAP2	1613815	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	9.260000	0.95568	2.231000	0.72958	0.557000	0.71058	GTC		0.557	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		24	78	0	0	0	1	0	24	78					A	1626408	G	A	1626408	3	1	15	1	0	0	0	0	1	0	0	0	4562	1145	40	1	2107	1	DLGAP2	8	1626408	Missense_Mutation	SNP	G	TCGA-N6-A4V9-01A-11D-A28R-08		1626408	144737614	20	1036										
ASH2L	9070	broad.mit.edu	37	chr8	37993284	37993284	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	tcactgtacaagagctgcacGgtacgtacatgtttccatcc	8	12	1	1			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:37993284G>A	ENST00000343823.6	+	14	2028	c.1719G>A	c.(1717-1719)acG>acA	p.T573T	ASH2L_ENST00000250635.7_Intron|ASH2L_ENST00000521652.1_Intron|ASH2L_ENST00000545394.1_Splice_Site_p.T434T|ASH2L_ENST00000428278.2_Splice_Site_p.T479T	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	573	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				AGAGCTGCACGGTACGTACAT	0.423																																						ENST00000343823.6																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19						c.e14+1		ash2 (absent, small, or homeotic)-like (Drosophila)							61	60	60					8																	37993284		2203	4300	6503	SO:0001630	splice_region_variant	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37993284G>A	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"Zinc fingers, PHD-type"	744	protein-coding gene	gene with protein product		604782	"ash2 (absent, small, or homeotic, Drosophila, homolog)-like"	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1719+1G>A	8.37:g.37993284G>A			Somatic				ASH2L_ENST00000250635.7_Intron|ASH2L_ENST00000521652.1_Intron|ASH2L_ENST00000545394.1_Splice_Site_p.T434_splice|ASH2L_ENST00000428278.2_Splice_Site_p.T479_splice	p.T573_splice	NM_004674.4	NP_004665.2	WXS	Illumina GAIIx	Phase_I	Q9UBL3	ASH2L_HUMAN			14	2028	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	573			B30.2/SPRY.		A8K7C3|D3DSW9|O60659|O60660|Q96B62	Splice_Site	SNP	ENST00000343823.6	37	c.1719_splice	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194190	0.38707	.	.	ENSG00000129691	ENST00000524247	.	.	.	5.88	3.99	0.46301	.	.	.	.	.	T	0.56529	0.1991	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53732	-0.8397	4	.	.	.	.	7.199	0.25871	0.1397:0.0:0.7222:0.1381	.	.	.	.	S	169	.	.	G	+	1	0	ASH2L	38112441	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	1.935000	0.40173	1.488000	0.48433	0.655000	0.94253	GGT		0.423	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674	Silent	12	27	0	0	0	1	0	12	27					A	37993284	G	A	37993284	5	1	15	1	0	0	0	0	0	0	1	0	1042	1130	39	1	1773	1	ASH2L	8	37993284	Splice_Site	SNP	G	TCGA-N6-A4V9-01A-11D-A28R-08	36366876	37993284	108370738	21	1037										
ANK1	286	broad.mit.edu	37	chr8	41530024	41530024	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	ctcttagaacctggcagcttCtcttctgacctctgaccttc	6	15	4	3			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:41530024C>A	ENST00000347528.4	-	38	5027	c.4944G>T	c.(4942-4944)gaG>gaT	p.E1648D	ANK1_ENST00000396942.1_Missense_Mutation_p.E1648D|ANK1_ENST00000265709.8_Missense_Mutation_p.E1689D|ANK1_ENST00000352337.4_Missense_Mutation_p.E1648D|ANK1_ENST00000396945.1_Missense_Mutation_p.E1648D|ANK1_ENST00000289734.7_Missense_Mutation_p.E1648D|ANK1_ENST00000379758.2_Missense_Mutation_p.E1648D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1648	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)			CTGGCAGCTTCTCTTCTGACC	0.537																																						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.(4942-4944)gaG>gaT		ankyrin 1, erythrocytic							238	217	224					8																	41530024		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.chr8:41530024C>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.4944G>T	8.37:g.41530024C>A	ENSP00000339620:p.Glu1648Asp		Somatic				ANK1_ENST00000347528.4_Missense_Mutation_p.E1648D|ANK1_ENST00000265709.8_Missense_Mutation_p.E1689D|ANK1_ENST00000396945.1_Missense_Mutation_p.E1648D|ANK1_ENST00000289734.7_Missense_Mutation_p.E1648D|ANK1_ENST00000352337.4_Missense_Mutation_p.E1648D|ANK1_ENST00000379758.2_Missense_Mutation_p.E1648D	p.E1648D			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	5027	-	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)	1648			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4944G>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266106	0.80358	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.24	5.24	0.73138	.	0.202601	0.32401	N	0.006152	T	0.15262	0.0368	N	0.08118	0	0.27895	N	0.939179	P;B;P;B	0.41848	0.739;0.435;0.763;0.417	B;B;B;B	0.38500	0.275;0.073;0.153;0.215	T	0.09997	-1.0649	10	0.18710	T	0.47	.	11.7187	0.51670	0.0:0.9191:0.0:0.0809	.	1689;1648;1648;1648	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	D	1648;1648;1648;1648;1648;1648;1689	ENSP00000339620:E1648D;ENSP00000289734:E1648D;ENSP00000369082:E1648D;ENSP00000380149:E1648D;ENSP00000380147:E1648D;ENSP00000309131:E1648D;ENSP00000265709:E1689D	ENSP00000265709:E1689D	E	-	3	2	ANK1	41649181	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.413000	0.44618	2.635000	0.89317	0.552000	0.68991	GAG		0.537	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		9	304	1	0	0.00448238	1	0.00464247	9	304					A	41530024	C	A	41530024	3	1	15	1	0	0	0	0	1	0	0	0	620	912	32	2	1047	2	ANK1	8	41530024	Missense_Mutation	SNP	C	TCGA-N6-A4V9-01A-11D-A28R-08	3536740	41530024	104833998	22	1038										
POTEA	340441	broad.mit.edu	37	chr8	43147752	43147752	+	RNA	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	caggggaagcggcaagaacaAcatgggtgcttggagagacc	16	8	0	2			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:43147752A>T	ENST00000522175.2	+	0	127							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						GGCAAGAACAACATGGGTGCT	0.607																																						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							61	65	63					8																	43147752		2203	4300	6503			340441							g.chr8:43147752A>T	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.43147752A>T			Somatic								WXS	Illumina GAIIx	Phase_I	Q6S8J7	POTEA_HUMAN			0	127	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.607	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		8	123	0	0	0	1	0	8	123					T	43147752	A	T	43147752	1	4	15	0	1	0	0	0	0	0	0	0	12270	43	2	4		4	POTEA	8	43147752	RNA	SNP	A	TCGA-N6-A4V9-01A-11D-A28R-08	1617728	43147752	103216270	23	1039										
SLC10A5	347051	broad.mit.edu	37	chr8	82606828	82606828	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	ggagtagactgtctttttgtTtgagcactttgactttcaca	9	7	2	3			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:82606828T>C	ENST00000518568.1	-	1	1581	c.380A>G	c.(379-381)aAa>aGa	p.K127R		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	127						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GTCTTTTTGTTTGAGCACTTT	0.353																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(379-381)aAa>aGa		solute carrier family 10, member 5							140	131	134					8																	82606828		2203	4300	6503	SO:0001583	missense	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606828T>C		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"Solute carriers"	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.380A>G	8.37:g.82606828T>C	ENSP00000428612:p.Lys127Arg		Somatic					p.K127R	NM_001010893.2	NP_001010893.1	WXS	Illumina GAIIx	Phase_I	Q5PT55	NTCP5_HUMAN			1	1581	-			127					B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	c.380A>G	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	T	1.131	-0.652297	0.03480	.	.	ENSG00000253598	ENST00000518568	T	0.08546	3.08	6.17	-4.64	0.03349	.	2.031170	0.02395	N	0.080050	T	0.03011	0.0089	N	0.02539	-0.55	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.42899	-0.9424	10	0.06494	T	0.89	-4.4111	9.3935	0.38388	0.0:0.5332:0.1343:0.3325	.	127	Q5PT55	NTCP5_HUMAN	R	127	ENSP00000428612:K127R	ENSP00000428612:K127R	K	-	2	0	SLC10A5	82769383	0.000000	0.05858	0.000000	0.03702	0.535000	0.34838	-0.456000	0.06754	-0.860000	0.04099	-0.264000	0.10439	AAA		0.353	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		27	40	0	0	0	1	0	27	40					C	82606828	T	C	82606828	3	2	15	1	0	0	0	0	1	0	0	0	14392	1841	64	4	938	4	SLC10A5	8	82606828	Missense_Mutation	SNP	T	TCGA-N6-A4V9-01A-11D-A28R-08	39459076	82606828	63757194	24	1040										
LYZL2	119180	broad.mit.edu	37	chr10	30901770	30901770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	ccaatagttcattccttgtgTctctttaacaattttcttgg	5	9	3	0			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr10:30901770T>C	ENST00000375318.2	-	4	552	c.496A>G	c.(496-498)Aca>Gca	p.T166A		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	120					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				ATTCCTTGTGTCTCTTTAACA	0.418																																						ENST00000375318.2																			0				NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19						c.(496-498)Aca>Gca		lysozyme-like 2							134	111	119					10																	30901770		2203	4300	6503	SO:0001583	missense	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30901770T>C	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.496A>G	10.37:g.30901770T>C	ENSP00000364467:p.Thr166Ala		Somatic					p.T166A	NM_183058.2	NP_898881.2	WXS	Illumina GAIIx	Phase_I	Q7Z4W2	LYZL2_HUMAN			4	552	-		Prostate(175;0.151)	120					Q6NZ69	Missense_Mutation	SNP	ENST00000375318.2	37	c.496A>G	CCDS7167.2	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752743	0.31046	.	.	ENSG00000151033	ENST00000375318	T	0.74315	-0.83	2.06	2.06	0.26882	.	0.219933	0.38605	N	0.001630	T	0.55114	0.1900	N	0.20685	0.6	0.26002	N	0.982108	B	0.20052	0.041	B	0.20955	0.032	T	0.50915	-0.8771	10	0.59425	D	0.04	-4.9869	6.0971	0.20027	0.0:0.0:0.0:1.0	.	166	Q7Z4W2-2	.	A	166	ENSP00000364467:T166A	ENSP00000364467:T166A	T	-	1	0	LYZL2	30941776	1.000000	0.71417	0.660000	0.29694	0.589000	0.36550	2.052000	0.41316	1.188000	0.43014	0.397000	0.26171	ACA		0.418	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		5	33	0	0	0	1	0	5	33					C	30901770	T	C	30901770	3	2	15	1	0	0	0	0	1	0	0	0	9141	1667	58	4	96	4	LYZL2	10	30901770	Missense_Mutation	SNP	T	TCGA-N6-A4V9-01A-11D-A28R-08		30901770	104632977	25	1041										
SLIT1	6585	broad.mit.edu	37	chr10	98761065	98761065	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	agatggcatagcccctctggAcctggtgaaagtcccggaca	12	12	1	2			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr10:98761065A>G	ENST00000266058.4	-	37	4654	c.4409T>C	c.(4408-4410)gTc>gCc	p.V1470A	SLIT1_ENST00000371070.4_Missense_Mutation_p.S1429P|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1470	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			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)		GCCCCTCTGGACCTGGTGAAA	0.677																																						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.(4408-4410)gTc>gCc		slit homolog 1 (Drosophila)							44	53	50					10																	98761065		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.chr10:98761065A>G	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.4409T>C	10.37:g.98761065A>G	ENSP00000266058:p.Val1470Ala		Somatic				SLIT1_ENST00000371070.4_Missense_Mutation_p.S1429P|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	p.V1470A	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)	37	4654	-		Colorectal(252;0.162)	1470			CTCK.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.4409T>C	CCDS7453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.89|14.89	2.671702|2.671702	0.47781|0.47781	.|.	.|.	ENSG00000187122|ENSG00000187122	ENST00000371070|ENST00000266058	T|T	0.81247|0.80909	-1.47|-1.43	5.09|5.09	5.09|5.09	0.68999|0.68999	.|Cystine knot, C-terminal (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75946|0.75946	0.3919|0.3919	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|P	.|0.38195	.|0.622	.|B	.|0.35182	.|0.197	T|T	0.74420|0.74420	-0.3671|-0.3671	7|10	0.66056|0.23302	D|T	0.02|0.38	.|.	15.0149|15.0149	0.71576|0.71576	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1470	.|O75093	.|SLIT1_HUMAN	P|A	1429|1470	ENSP00000360109:S1429P|ENSP00000266058:V1470A	ENSP00000360109:S1429P|ENSP00000266058:V1470A	S|V	-|-	1|2	0|0	SLIT1|SLIT1	98751055|98751055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.800000|2.800000	0.47900|0.47900	2.139000|2.139000	0.66308|0.66308	0.459000|0.459000	0.35465|0.35465	TCC|GTC		0.677	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		50	20	0	0	0	1	0	50	20					G	98761065	A	G	98761065	3	3	15	1	0	0	0	0	1	0	0	0	14754	275	10	4	199	4	SLIT1	10	98761065	Missense_Mutation	SNP	A	TCGA-N6-A4V9-01A-11D-A28R-08	67859295	98761065	36773682	26	1042										
SOX6	55553	broad.mit.edu	37	chr11	16340073	16340073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	ggcaagactccctttgcggcGctctggggttccaaaagtaa	12	11	1	1			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr11:16340073G>A	ENST00000352083.6	-	3	441	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000316399.6_Missense_Mutation_p.R122C|SOX6_ENST00000528252.1_Missense_Mutation_p.R122C|SOX6_ENST00000527619.1_Missense_Mutation_p.R125C|SOX6_ENST00000396356.3_Missense_Mutation_p.R122C|SOX6_ENST00000528429.1_Missense_Mutation_p.R122C			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	122					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R122C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCTTTGCGGCGCTCTGGGGTT	0.502																																						ENST00000352083.6																			1	Substitution - Missense(1)	p.R122C(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(364-366)Cgc>Tgc		SRY (sex determining region Y)-box 6							196	183	187					11																	16340073		2200	4294	6494	SO:0001583	missense	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16340073G>A	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"SRY (sex determining region Y)-boxes"	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.364C>T	11.37:g.16340073G>A	ENSP00000339876:p.Arg122Cys		Somatic				SOX6_ENST00000396356.3_Missense_Mutation_p.R122C|SOX6_ENST00000316399.6_Missense_Mutation_p.R122C|SOX6_ENST00000527619.1_Missense_Mutation_p.R125C|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000528429.1_Missense_Mutation_p.R122C|SOX6_ENST00000528252.1_Missense_Mutation_p.R122C	p.R122C			WXS	Illumina GAIIx	Phase_I	P35712	SOX6_HUMAN			3	441	-			122					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37	c.364C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.126131	0.94429	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429;ENST00000533411;ENST00000526673	D;D;D;D;D;D	0.98947	-5.26;-5.22;-5.26;-4.94;-4.94;-5.22	5.28	5.28	0.74379	.	0.063248	0.64402	D	0.000006	D	0.99067	0.9680	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.998;0.999;1.0;0.995	D	0.99875	1.1102	10	0.87932	D	0	.	19.2735	0.94021	0.0:0.0:1.0:0.0	.	122;122;122;122;125	E9PQ78;E9PQL4;P35712-3;P35712;P35712-2	.;.;.;SOX6_HUMAN;.	C	122;122;122;122;125;122;122;122	ENSP00000324948:R122C;ENSP00000339876:R122C;ENSP00000379644:R122C;ENSP00000432134:R122C;ENSP00000434455:R125C;ENSP00000433233:R122C	ENSP00000324948:R122C	R	-	1	0	SOX6	16296649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.341000	0.97041	2.632000	0.89209	0.591000	0.81541	CGC		0.502	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		88	6	0	0	0	1	0	88	6					A	16340073	G	A	16340073	3	1	15	1	0	0	0	0	1	0	0	0	14970	1087	38	1	2220	1	SOX6	11	16340073	Missense_Mutation	SNP	G	TCGA-N6-A4V9-01A-11D-A28R-08		16340073	118666443	27	1043										
NPAS4	266743	broad.mit.edu	37	chr11	66191699	66191699	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	ctccatgagcccttccagacCcatttgcccaccccatccag	5	20	0	2			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr11:66191699C>G	ENST00000311034.2	+	7	1514	c.1338C>G	c.(1336-1338)acC>acG	p.T446T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	446					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						CCTTCCAGACCCATTTGCCCA	0.557																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(1336-1338)acC>acG		neuronal PAS domain protein 4							191	189	189					11																	66191699		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191699C>G	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.1338C>G	11.37:g.66191699C>G			Somatic					p.T446T	NM_178864.3	NP_849195.2	WXS	Illumina GAIIx	Phase_I	Q8IUM7	NPAS4_HUMAN			7	1514	+			446					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.1338C>G	CCDS8138.1																																																																																				0.557	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		17	179	0	0	0	1	0	17	179					G	66191699	C	G	66191699	2	3	15	1	0	0	0	0	0	0	0	1	10574	610	22	5		5	NPAS4	11	66191699	Silent	SNP	C	TCGA-N6-A4V9-01A-11D-A28R-08	49851626	66191699	68814817	28	1044										
MRPL11	65003	broad.mit.edu	37	chr11	66204693	66204693	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	agctttgatgcgggcaatctCatacacatgcttcaaggtca	9	10	3	1			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr11:66204693C>T	ENST00000310999.7	-	4	448	c.355G>A	c.(355-357)Gag>Aag	p.E119K	MRPL11_ENST00000430466.2_Missense_Mutation_p.E93K|MRPL11_ENST00000524576.1_5'UTR|MRPL11_ENST00000329819.4_Missense_Mutation_p.E119K	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	119					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						CGGGCAATCTCATACACATGC	0.567																																						ENST00000310999.7																			0				endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						c.(355-357)Gag>Aag		mitochondrial ribosomal protein L11							101	93	96					11																	66204693		2200	4295	6495	SO:0001583	missense	65003				translation		structural constituent of ribosome	g.chr11:66204693C>T	AB051338	CCDS8139.1, CCDS8140.1, CCDS44655.1	11q13.2	2012-11-14			ENSG00000174547	ENSG00000174547		"Mitochondrial ribosomal proteins / large subunits"	14042	protein-coding gene	gene with protein product		611826					Standard	XR_247672		Approved		uc001ohz.4	Q9Y3B7	OTTHUMG00000167097	ENST00000310999.7:c.355G>A	11.37:g.66204693C>T	ENSP00000308897:p.Glu119Lys		Somatic				MRPL11_ENST00000430466.2_Missense_Mutation_p.E93K|MRPL11_ENST00000329819.4_Missense_Mutation_p.E119K|MRPL11_ENST00000524576.1_5'UTR	p.E119K	NM_016050.3	NP_057134.1	WXS	Illumina GAIIx	Phase_I	Q9Y3B7	RM11_HUMAN			4	448	-			119					A6NLT0|A8K219|Q32P46|Q96Q73	Missense_Mutation	SNP	ENST00000310999.7	37	c.355G>A	CCDS8139.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254294	0.95336	.	.	ENSG00000174547	ENST00000310999;ENST00000430466;ENST00000528272;ENST00000329819	.	.	.	5.79	5.79	0.91817	Ribosomal protein L11, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.76478	0.3993	L	0.54908	1.71	0.80722	D	1	D;D;D	0.89917	0.99;0.992;1.0	D;D;D	0.91635	0.959;0.976;0.999	T	0.77523	-0.2556	9	0.87932	D	0	-32.8538	17.5412	0.87848	0.0:1.0:0.0:0.0	.	93;119;119	Q9Y3B7-2;Q9Y3B7;A6NLT0	.;RM11_HUMAN;.	K	119;93;1;119	.	ENSP00000308897:E119K	E	-	1	0	MRPL11	65961269	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	4.813000	0.62620	2.722000	0.93159	0.655000	0.94253	GAG		0.567	MRPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393098.2	NM_016050		37	0	0	0	0	1	0	37	0					T	66204693	C	T	66204693	3	4	15	1	0	0	0	0	1	0	0	0	9785	835	29	3	308	3	MRPL11	11	66204693	Missense_Mutation	SNP	C	TCGA-N6-A4V9-01A-11D-A28R-08	12994	66204693	68801823	29	1045										
SCN2B	6327	broad.mit.edu	37	chr11	118038953	118038953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	ggggttccctgagaactccaCgcggtcttgaaaccgctcca	11	14	1	2			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr11:118038953C>T	ENST00000278947.5	-	3	536	c.295G>A	c.(295-297)Gtg>Atg	p.V99M		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	99	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)	GAGAACTCCACGCGGTCTTGA	0.542																																						ENST00000278947.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7						c.(295-297)Gtg>Atg		sodium channel, voltage-gated, type II, beta subunit							108	85	93					11																	118038953		2200	4296	6496	SO:0001583	missense	6327				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118038953C>T	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.295G>A	11.37:g.118038953C>T	ENSP00000278947:p.Val99Met		Somatic					p.V99M	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)	3	536	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	99			Ig-like C2-type.		O75302|Q9UNN3	Missense_Mutation	SNP	ENST00000278947.5	37	c.295G>A	CCDS8390.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055732	0.75960	.	.	ENSG00000149575	ENST00000278947	D	0.95171	-3.63	4.9	3.96	0.45880	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96867	0.8977	M	0.87038	2.855	0.58432	D	0.999999	D	0.89917	1.0	D	0.71870	0.975	D	0.96671	0.9496	10	0.87932	D	0	-15.5159	9.3694	0.38246	0.0:0.7726:0.1474:0.08	.	99	O60939	SCN2B_HUMAN	M	99	ENSP00000278947:V99M	ENSP00000278947:V99M	V	-	1	0	SCN2B	117544163	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.468000	0.66743	1.255000	0.44051	0.655000	0.94253	GTG		0.542	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588		34	4	0	0	0	1	0	34	4					T	118038953	C	T	118038953	3	4	15	1	0	0	0	0	1	0	0	0	13932	536	19	1	360	1	SCN2B	11	118038953	Missense_Mutation	SNP	C	TCGA-N6-A4V9-01A-11D-A28R-08	51834260	118038953	16967563	30	1046										
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina GAIIx	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		14	8	0	0	0	1	0	14	8					T	25398284	C	T	25398284	3	4	15	1	0	0	0	0	1	0	0	0	8447	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-N6-A4V9-01A-11D-A28R-08		25398284	108453611	31	1047										
TMEM5	10329	broad.mit.edu	37	chr12	64173847	64173847	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	cgggcgccgccgccaggcgcCggccgggtccccgcggggcc	19	20	0	0			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr12:64173847C>G	ENST00000261234.6	+	1	265	c.107C>G	c.(106-108)cCg>cGg	p.P36R	RP11-415I12.3_ENST00000509615.2_RNA|TMEM5_ENST00000537373.1_5'Flank	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	36						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)		cgccaggcgccggccgggtcc	0.716																																						ENST00000261234.6																			0				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15						c.(106-108)cCg>cGg		transmembrane protein 5							15	17	17					12																	64173847		2193	4278	6471	SO:0001583	missense	10329					integral to plasma membrane		g.chr12:64173847C>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.107C>G	12.37:g.64173847C>G	ENSP00000261234:p.Pro36Arg		Somatic				RP11-415I12.3_ENST00000509615.2_RNA	p.P36R	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	265	+		Myeloproliferative disorder(1001;0.0255)	36					A8K017|Q6PKD6	Missense_Mutation	SNP	ENST00000261234.6	37	c.107C>G	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	C	6.680	0.493977	0.12702	.	.	ENSG00000118600	ENST00000261234	T	0.29397	1.57	3.39	1.48	0.22813	.	0.379952	0.25708	N	0.028823	T	0.12732	0.0309	N	0.11427	0.14	0.09310	N	0.999991	B	0.30914	0.3	B	0.31547	0.132	T	0.18524	-1.0334	9	.	.	.	-16.7751	4.5572	0.12141	0.2145:0.6665:0.0:0.119	.	36	Q9Y2B1	TMEM5_HUMAN	R	36	ENSP00000261234:P36R	.	P	+	2	0	TMEM5	62460114	0.001000	0.12720	0.001000	0.08648	0.527000	0.34593	0.774000	0.26675	0.406000	0.25560	0.462000	0.41574	CCG		0.716	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		8	12	0	0	0	1	0	8	12					G	64173847	C	G	64173847	3	3	15	1	0	0	0	0	1	0	0	0	16189	652	23	5	109	5	TMEM5	12	64173847	Missense_Mutation	SNP	C	TCGA-N6-A4V9-01A-11D-A28R-08	38775563	64173847	69678048	32	1048										
LGR5	8549	broad.mit.edu	37	chr12	71918250	71918250	+	Frame_Shift_Del	DEL	A	A	-													0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	tcactggcctttacagtcttAaagttctgtaagtaaactga					rs371640496		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr12:71918250delA	ENST00000266674.5	+	3	660	c.349delA	c.(349-351)aaafs	p.K117fs	LGR5_ENST00000536515.1_Frame_Shift_Del_p.K117fs|LGR5_ENST00000540815.2_Frame_Shift_Del_p.K117fs			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	117					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						TTACAGTCTTAAAGTTCTGTA	0.408																																						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.(349-351)aafs		leucine-rich repeat containing G protein-coupled receptor 5							168	163	164					12																	71918250		2203	4300	6503	SO:0001589	frameshift_variant	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71918250delA	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.349delA	12.37:g.71918250delA	ENSP00000266674:p.Lys117fs		Somatic				LGR5_ENST00000536515.1_Frame_Shift_Del_p.K117fs|LGR5_ENST00000540815.2_Frame_Shift_Del_p.K117fs	p.K117fs			WXS	Illumina GAIIx	Phase_I	O75473	LGR5_HUMAN			3	660	+			117					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Frame_Shift_Del	DEL	ENST00000266674.5	37	c.349delA	CCDS9000.1																																																																																				0.408	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		9	67						9	67	---	---	---	---	-	71918250	A	-	71918250	7	5	15	1	0	1	0	1	0	0	0	0	8766	363	13	0	359	0	LGR5	12	71918250	Frame_Shift_Del	DEL	A	TCGA-N6-A4V9-01A-11D-A28R-08	7744403	71918250	61933645	33	1049										
TRPV4	59341	broad.mit.edu	37	chr12	110246256	110246256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	gctgaggggcaggggctttgGggctctgcggctgcttcctg	19	10	1	1			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr12:110246256G>A	ENST00000418703.2	-	2	498	c.404C>T	c.(403-405)cCc>cTc	p.P135L	TRPV4_ENST00000537083.1_Missense_Mutation_p.P135L|TRPV4_ENST00000536838.1_Missense_Mutation_p.P101L|TRPV4_ENST00000346520.2_Missense_Mutation_p.P135L|TRPV4_ENST00000392719.2_Missense_Mutation_p.P135L|TRPV4_ENST00000541794.1_Missense_Mutation_p.P135L|TRPV4_ENST00000544971.1_Missense_Mutation_p.P135L|TRPV4_ENST00000261740.2_Missense_Mutation_p.P135L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	135					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGGGGCTTTGGGGCTCTGCGG	0.647																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(403-405)cCc>cTc		transient receptor potential cation channel, subfamily V, member 4							31	33	32					12																	110246256		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.chr12:110246256G>A	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.404C>T	12.37:g.110246256G>A	ENSP00000406191:p.Pro135Leu		Somatic				TRPV4_ENST00000541794.1_Missense_Mutation_p.P135L|TRPV4_ENST00000536838.1_Missense_Mutation_p.P101L|TRPV4_ENST00000392719.2_Missense_Mutation_p.P135L|TRPV4_ENST00000346520.2_Missense_Mutation_p.P135L|TRPV4_ENST00000261740.2_Missense_Mutation_p.P135L|TRPV4_ENST00000537083.1_Missense_Mutation_p.P135L|TRPV4_ENST00000544971.1_Missense_Mutation_p.P135L	p.P135L	NM_001177431.1	NP_001170902.1	WXS	Illumina GAIIx	Phase_I	Q9HBA0	TRPV4_HUMAN			2	498	-			135					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.404C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	g	12.17	1.857513	0.32791	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.89123	-2.43;-2.43;-2.25;-2.47;-2.25;-2.47;-2.25;-2.43	3.66	2.73	0.32206	.	0.706131	0.12399	U	0.472252	T	0.75903	0.3913	N	0.08118	0	0.27773	N	0.943423	B;B;B;B;B	0.18461	0.028;0.013;0.0;0.022;0.022	B;B;B;B;B	0.15484	0.013;0.004;0.0;0.008;0.008	T	0.64859	-0.6308	10	0.27082	T	0.32	-28.8619	9.5606	0.39366	0.11:0.0:0.89:0.0	.	135;135;135;135;101	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	L	135;135;135;135;135;135;135;101	ENSP00000406191:P135L;ENSP00000261740:P135L;ENSP00000376480:P135L;ENSP00000319003:P135L;ENSP00000443611:P135L;ENSP00000442738:P135L;ENSP00000442167:P135L;ENSP00000444336:P101L	ENSP00000261740:P135L	P	-	2	0	TRPV4	108730639	0.941000	0.31946	1.000000	0.80357	0.971000	0.66376	1.343000	0.33930	1.780000	0.52325	0.459000	0.35465	CCC		0.647	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		23	14	0	0	0	1	0	23	14					A	110246256	G	A	110246256	3	1	15	1	0	0	0	0	1	0	0	0	16613	1232	43	3	2267	3	TRPV4	12	110246256	Missense_Mutation	SNP	G	TCGA-N6-A4V9-01A-11D-A28R-08	38328006	110246256	23605639	34	1050										
FAM92B	339145	broad.mit.edu	37	chr16	85143873	85143873	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	cactttggccaggtcctcagCgaagcccctcatggtggccc	11	16	2	0			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr16:85143873C>G	ENST00000539556.1	-	2	369	c.214G>C	c.(214-216)Gct>Cct	p.A72P		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	72										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						AGGTCCTCAGCGAAGCCCCTC	0.667																																						ENST00000539556.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						c.(214-216)Gct>Cct		family with sequence similarity 92, member B							47	51	50					16																	85143873		2198	4300	6498	SO:0001583	missense	339145							g.chr16:85143873C>G		CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.214G>C	16.37:g.85143873C>G	ENSP00000443411:p.Ala72Pro		Somatic					p.A72P	NM_198491.1	NP_940893.1	WXS	Illumina GAIIx	Phase_I	Q6ZTR7	FA92B_HUMAN			2	369	-			72						Missense_Mutation	SNP	ENST00000539556.1	37	c.214G>C	CCDS32500.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607180	0.87157	.	.	ENSG00000153789	ENST00000393246;ENST00000539556	T	0.52983	0.64	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000004	T	0.72755	0.3500	M	0.85197	2.74	0.51767	D	0.999931	D	0.89917	1.0	D	0.97110	1.0	T	0.77319	-0.2632	10	0.87932	D	0	-24.6175	16.8584	0.86011	0.0:1.0:0.0:0.0	.	72	Q6ZTR7	FA92B_HUMAN	P	72	ENSP00000443411:A72P	ENSP00000376937:A72P	A	-	1	0	FAM92B	83701374	0.999000	0.42202	0.219000	0.23793	0.663000	0.39108	4.313000	0.59160	2.582000	0.87167	0.561000	0.74099	GCT		0.667	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198491		21	17	0	0	0	1	0	21	17					G	85143873	C	G	85143873	3	3	15	1	0	0	0	0	1	0	0	0	5661	768	27	5	728	5	FAM92B	16	85143873	Missense_Mutation	SNP	C	TCGA-N6-A4V9-01A-11D-A28R-08		85143873	5210880	35	1051										
CYB5D2	124936	broad.mit.edu	37	chr17	4058097	4058097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	agagaagcagacattcccgcCgtgcaacgcggagtggagct	14	11	0	2			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:4058097C>T	ENST00000301391.3	+	3	1021	c.521C>T	c.(520-522)cCg>cTg	p.P174L	CYB5D2_ENST00000573984.1_Missense_Mutation_p.P62L|CYB5D2_ENST00000575251.1_Missense_Mutation_p.P62L|CYB5D2_ENST00000575411.2_3'UTR	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	174					nervous system development (GO:0007399)	extracellular region (GO:0005576)	heme binding (GO:0020037)			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						ACATTCCCGCCGTGCAACGCG	0.612																																						ENST00000301391.3																			0				breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						c.(520-522)cCg>cTg		cytochrome b5 domain containing 2							51	51	51					17																	4058097		2203	4300	6503	SO:0001583	missense	124936				nervous system development	extracellular region	heme binding	g.chr17:4058097C>T	AK172844	CCDS11044.1, CCDS58501.1	17p13.2	2006-03-10							28471	protein-coding gene	gene with protein product							Standard	NM_144611		Approved	MGC32124	uc002fxm.4	Q8WUJ1		ENST00000301391.3:c.521C>T	17.37:g.4058097C>T	ENSP00000301391:p.Pro174Leu		Somatic				CYB5D2_ENST00000575251.1_Missense_Mutation_p.P62L|CYB5D2_ENST00000575411.2_3'UTR|CYB5D2_ENST00000573984.1_Missense_Mutation_p.P62L	p.P174L	NM_144611.3	NP_653212.1	WXS	Illumina GAIIx	Phase_I	Q8WUJ1	NEUFC_HUMAN			3	1021	+			174					B2R7R6|D3DTJ9|I3L1K2	Missense_Mutation	SNP	ENST00000301391.3	37	c.521C>T	CCDS11044.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164538	0.57476	.	.	ENSG00000167740	ENST00000301391	T	0.77877	-1.13	5.74	5.74	0.90152	.	0.176609	0.50627	D	0.000106	T	0.80798	0.4692	M	0.85542	2.76	0.80722	D	1	D	0.56287	0.975	B	0.39660	0.306	D	0.85420	0.1142	10	0.72032	D	0.01	-16.2388	18.4818	0.90815	0.0:1.0:0.0:0.0	.	174	Q8WUJ1	NEUFC_HUMAN	L	174	ENSP00000301391:P174L	ENSP00000301391:P174L	P	+	2	0	CYB5D2	4004846	0.451000	0.25705	0.206000	0.23566	0.027000	0.11550	4.286000	0.58995	2.716000	0.92895	0.561000	0.74099	CCG		0.612	CYB5D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438698.1	NM_144611		34	2	0	0	0	1	0	34	2					T	4058097	C	T	4058097	3	4	15	1	0	0	0	0	1	0	0	0	4127	652	23	1	531	1	CYB5D2	17	4058097	Missense_Mutation	SNP	C	TCGA-N6-A4V9-01A-11D-A28R-08		4058097	77137113	36	1052										
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	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	catgtgctgtgactgcttgtAgatggccatggcgcggacgc	15	10	0	2			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:7578443A>G	ENST00000269305.4	-	5	676	c.487T>C	c.(487-489)Tac>Cac	p.Y163H	TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_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_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000269305.4_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H	p.Y163H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	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		43	2	0	0	0	1	0	43	2					G	7578443	A	G	7578443	3	3	15	1	0	0	0	0	1	0	0	0	16396	420	15	4	811	4	TP53	17	7578443	Missense_Mutation	SNP	A	TCGA-N6-A4V9-01A-11D-A28R-08	3520346	7578443	73616767	37	1053										
STAT3	6774	broad.mit.edu	37	chr17	40489876	40489876	+	Splice_Site	DEL	C	C	-													0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	tccattcagatcttgcatgtCtgcgaaggaagaaaaaactc							TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:40489876delC	ENST00000264657.5	-	7	863		c.e7-1		STAT3_ENST00000585517.1_Splice_Site|STAT3_ENST00000588969.1_Splice_Site|STAT3_ENST00000404395.3_Splice_Site|STAT3_ENST00000389272.3_Splice_Site	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)						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)		TCTTGCATGTCTGCGAAGGAA	0.507									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.e7-1		signal transducer and activator of transcription 3 (acute-phase response factor)							81	70	74					17																	40489876		2203	4300	6503	SO:0001630	splice_region_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.chr17:40489876delC	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.551-1G>-	17.37:g.40489876delC			Somatic				STAT3_ENST00000588969.1_Splice_Site|STAT3_ENST00000585517.1_Splice_Site|STAT3_ENST00000389272.3_Splice_Site|STAT3_ENST00000404395.3_Splice_Site		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)	7	863	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)						A8K7B8|K7ENL3|O14916|Q9BW54	Splice_Site	DEL	ENST00000264657.5	37		CCDS32656.1																																																																																				0.507	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150	Intron	24	0						24	0	---	---	---	---	-	40489876	C	-	40489876	8	5	15	1	0	1	0	1	0	0	1	0	15281	927	32	0	1834	0	STAT3	17	40489876	Splice_Site	DEL	C	TCGA-N6-A4V9-01A-11D-A28R-08	32911433	40489876	40705334	38	1054										
CNTNAP1	8506	broad.mit.edu	37	chr17	40839788	40839788	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	gtaccgcaccctatcaacttCggaggccctcacaacttcgt	7	16	2	0			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:40839788C>T	ENST00000264638.4	+	8	1312	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	365					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)		CTATCAACTTCGGAGGCCCTC	0.617																																						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.(1093-1095)ttC>ttT		contactin associated protein 1							131	114	120					17																	40839788		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.chr17:40839788C>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.1095C>T	17.37:g.40839788C>T			Somatic				CTD-3193K9.3_ENST00000592440.1_RNA	p.F365F	NM_003632.2	NP_003623.1	WXS	Illumina GAIIx	Phase_I	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	8	1312	+		Breast(137;0.000143)	365						Silent	SNP	ENST00000264638.4	37	c.1095C>T	CCDS11436.1																																																																																				0.617	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		66	5	0	0	0	1	0	66	5					T	40839788	C	T	40839788	2	4	15	1	0	0	0	0	0	0	0	1	3648	883	31	1		1	CNTNAP1	17	40839788	Silent	SNP	C	TCGA-N6-A4V9-01A-11D-A28R-08	349912	40839788	40355422	39	1055										
NME1	4830	broad.mit.edu	37	chr17	49237345	49237345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	ctgtcctgttgaataggcttCcgaagatcttctcaaggaac	9	10	2	2			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:49237345C>T	ENST00000393196.3	+	3	262	c.131C>T	c.(130-132)tCc>tTc	p.S44F	NME1-NME2_ENST00000608447.1_Missense_Mutation_p.S69F|NME1_ENST00000511355.1_Missense_Mutation_p.S44F|NME2_ENST00000376392.6_Missense_Mutation_p.S44F|NME2_ENST00000555572.1_Missense_Mutation_p.S69F|NME2_ENST00000393193.2_Missense_Mutation_p.S44F|NME1_ENST00000480143.1_Missense_Mutation_p.S69F|NME1_ENST00000013034.3_Missense_Mutation_p.S69F|NME1-NME2_ENST00000393198.3_Missense_Mutation_p.S44F|NME1_ENST00000336097.3_Missense_Mutation_p.S69F	NM_000269.2	NP_000260.1	P15531	NDKA_HUMAN	NME/NM23 nucleoside diphosphate kinase 1	44					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)	GAATAGGCTTCCGAAGATCTT	0.463																																					GBM(176;1298 2890 6639 30062)	ENST00000511355.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(130-132)tCc>tTc		NME/NM23 nucleoside diphosphate kinase 1							152	138	143					17																	49237345		2203	4300	6503	SO:0001583	missense	4830							g.chr17:49237345C>T	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.131C>T	17.37:g.49237345C>T	ENSP00000376892:p.Ser44Phe		Somatic				NME1_ENST00000013034.3_Missense_Mutation_p.S69F|NME2_ENST00000376392.6_Missense_Mutation_p.S44F|NME2_ENST00000555572.1_Missense_Mutation_p.S69F|NME1_ENST00000480143.1_Missense_Mutation_p.S69F|NME2_ENST00000393193.2_Missense_Mutation_p.S44F|NME1_ENST00000393196.3_Missense_Mutation_p.S44F|NME1_ENST00000336097.3_Missense_Mutation_p.S69F	p.S44F			WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		3	217	+								Q6FGK3|Q86XQ2|Q9UDJ6	Missense_Mutation	SNP	ENST00000393196.3	37	c.131C>T	CCDS11579.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131469	0.56828	.	.	ENSG00000239672;ENSG00000239672;ENSG00000239672;ENSG00000239672;ENSG00000239672;ENSG00000011052;ENSG00000011052;ENSG00000243678;ENSG00000243678	ENST00000393196;ENST00000336097;ENST00000480143;ENST00000511355;ENST00000013034;ENST00000376392;ENST00000555572;ENST00000393193;ENST00000393198	T;T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.45	5.45	0.79879	.	.	.	.	.	D	0.94089	0.8105	H	0.98295	4.195	0.54753	D	0.999985	D;D;P;D	0.89917	0.995;1.0;0.75;0.998	D;D;B;D	0.68353	0.924;0.957;0.272;0.937	D	0.96052	0.9032	9	0.87932	D	0	-8.5278	19.6385	0.95748	0.0:1.0:0.0:0.0	.	69;69;44;69	E7ERL0;Q32Q12;P15531;P15531-2	.;.;NDKA_HUMAN;.	F	44;69;69;44;69;44;69;44;69	ENSP00000376892:S44F;ENSP00000337060:S69F;ENSP00000429318:S69F;ENSP00000428553:S44F;ENSP00000013034:S69F;ENSP00000365572:S44F;ENSP00000451932:S69F;ENSP00000376889:S44F	ENSP00000013034:S69F	S	+	2	0	NME2;NME1-NME2;NME1	46592344	0.998000	0.40836	0.998000	0.56505	0.057000	0.15508	4.835000	0.62781	2.703000	0.92315	0.655000	0.94253	TCC		0.463	NME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268662.2	NM_000269		59	152	0	0	0	1	0	59	152					T	49237345	C	T	49237345	3	4	15	1	0	0	0	0	1	0	0	0	10498	855	30	3	216	3	NME1	17	49237345	Missense_Mutation	SNP	C	TCGA-N6-A4V9-01A-11D-A28R-08	8397557	49237345	31957865	40	1056										
CLTC	1213	broad.mit.edu	37	chr17	57721745	57721745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	taggagagcaggcccaggtgGtaatcattgatatgaatgac	13	6	1	4			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:57721745G>A	ENST00000269122.3	+	2	425	c.151G>A	c.(151-153)Gta>Ata	p.V51I	CLTC_ENST00000579456.1_Missense_Mutation_p.V51I|CLTC_ENST00000393043.1_Missense_Mutation_p.V51I	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	51	Globular terminal domain.|WD40-like repeat 1.				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)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGCCCAGGTGGTAATCATTGA	0.443			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)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(151-153)Gta>Ata		clathrin, heavy chain (Hc)							90	83	85					17																	57721745		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.chr17:57721745G>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.151G>A	17.37:g.57721745G>A	ENSP00000269122:p.Val51Ile		Somatic				CLTC_ENST00000393043.1_Missense_Mutation_p.V51I|CLTC_ENST00000579456.1_Missense_Mutation_p.V51I	p.V51I	NM_004859.3	NP_004850.1	WXS	Illumina GAIIx	Phase_I	Q00610	CLH1_HUMAN			2	425	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		51			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.151G>A	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.524222	0.64747	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.40756	1.02;1.02	5.65	5.65	0.86999	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	M	0.64567	1.98	0.38908	D	0.95746	B;B	0.33379	0.41;0.008	B;B	0.39660	0.306;0.064	T	0.48703	-0.9012	10	0.37606	T	0.19	.	19.7153	0.96115	0.0:0.0:1.0:0.0	.	51;51	Q00610;Q00610-2	CLH1_HUMAN;.	I	51	ENSP00000269122:V51I;ENSP00000376763:V51I	ENSP00000269122:V51I	V	+	1	0	CLTC	55076527	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	9.864000	0.99589	2.647000	0.89833	0.655000	0.94253	GTA		0.443	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		16	94	0	0	0	1	0	16	94					A	57721745	G	A	57721745	3	1	15	1	0	0	0	0	1	0	0	0	3568	1261	44	3	157	3	CLTC	17	57721745	Missense_Mutation	SNP	G	TCGA-N6-A4V9-01A-11D-A28R-08	8484400	57721745	23473465	41	1057										
CD300A	11314	broad.mit.edu	37	chr17	72473654	72473654	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	tgctagcctggaggatgtttCagaaatggatcaaaggtgag	14	5	2	2			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:72473654C>T	ENST00000360141.3	+	4	901	c.613C>T	c.(613-615)Cag>Tag	p.Q205*	CD300A_ENST00000577511.1_Nonsense_Mutation_p.Q75*|CD300A_ENST00000392625.3_Nonsense_Mutation_p.Q92*|CD300A_ENST00000310828.5_Nonsense_Mutation_p.Q92*|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	205					cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GAGGATGTTTCAGAAATGGAT	0.597																																						ENST00000360141.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						c.(613-615)Cag>Tag		CD300a molecule							97	77	84					17																	72473654		2203	4300	6503	SO:0001587	stop_gained	11314				cell adhesion	integral to membrane|plasma membrane	receptor activity	g.chr17:72473654C>T	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19319	protein-coding gene	gene with protein product		606790	"CD300a antigen"			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.613C>T	17.37:g.72473654C>T	ENSP00000353259:p.Gln205*		Somatic				CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_Nonsense_Mutation_p.Q75*|CD300A_ENST00000392625.3_Nonsense_Mutation_p.Q92*|CD300A_ENST00000310828.5_Nonsense_Mutation_p.Q92*	p.Q205*	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	WXS	Illumina GAIIx	Phase_I	Q9UGN4	CLM8_HUMAN			4	901	+			205					A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Nonsense_Mutation	SNP	ENST00000360141.3	37	c.613C>T	CCDS32720.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135673	0.37728	.	.	ENSG00000167851	ENST00000360141;ENST00000392625;ENST00000310828	.	.	.	3.94	-0.72	0.11195	.	2.911800	0.01535	N	0.018957	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	0.8053	0.01083	0.1914:0.3995:0.1867:0.2223	.	.	.	.	X	205;92;92	.	ENSP00000308188:Q92X	Q	+	1	0	CD300A	69985249	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.179000	0.09768	0.033000	0.15463	-0.362000	0.07510	CAG		0.597	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		21	55	0	0	0	1	0	21	55					T	72473654	C	T	72473654	4	4	15	1	0	0	0	0	0	1	0	0	2998	827	29	3	627	3	CD300A	17	72473654	Nonsense_Mutation	SNP	C	TCGA-N6-A4V9-01A-11D-A28R-08	14751909	72473654	8721556	42	1058										
FASN	2194	broad.mit.edu	37	chr17	80040213	80040213	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	acccacctgtccaggttcagGgtgccgctgtacttgggctt	12	13	1	0	rs200041873		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:80040213G>T	ENST00000306749.2	-	35	6215	c.5997C>A	c.(5995-5997)acC>acA	p.T1999T	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1999	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCAGGTTCAGGGTGCCGCTGT	0.632																																					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.(5995-5997)acC>acA		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						68	69	69					17																	80040213		2203	4300	6503	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80040213G>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.5997C>A	17.37:g.80040213G>T			Somatic				FASN_ENST00000579758.1_5'UTR	p.T1999T	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)		35	6215	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1999			Beta-ketoacyl reductase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.5997C>A	CCDS11801.1																																																																																				0.632	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		18	57	1	0	3.52763e-06	1	3.78894e-06	18	57					T	80040213	G	T	80040213	2	4	15	1	0	0	0	0	0	0	0	1	5691	1219	43	5		5	FASN	17	80040213	Silent	SNP	G	TCGA-N6-A4V9-01A-11D-A28R-08	7566559	80040213	1154997	43	1059										
UBA2	10054	broad.mit.edu	37	chr19	34936017	34936017	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	ggatatgatccagttaaactTtttaccaaggttagatttac	7	6	0	2			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr19:34936017T>C	ENST00000246548.4	+	8	832	c.762T>C	c.(760-762)ctT>ctC	p.L254L	UBA2_ENST00000439527.2_Silent_p.L158L	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	254					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CAGTTAAACTTTTTACCAAGG	0.328																																						ENST00000439527.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(472-474)ctT>ctC		ubiquitin-like modifier activating enzyme 2							77	79	78					19																	34936017		2203	4300	6503	SO:0001819	synonymous_variant	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34936017T>C	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.762T>C	19.37:g.34936017T>C			Somatic				UBA2_ENST00000246548.4_Silent_p.L254L	p.L158L			WXS	Illumina GAIIx	Phase_I	Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		8	972	+	Esophageal squamous(110;0.162)		254					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Silent	SNP	ENST00000246548.4	37	c.474T>C	CCDS12439.1																																																																																				0.328	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		35	33	0	0	0	1	0	35	33					C	34936017	T	C	34936017	2	2	15	1	0	0	0	0	0	0	0	1	16843	1828	64	4		4	UBA2	19	34936017	Silent	SNP	T	TCGA-N6-A4V9-01A-11D-A28R-08		34936017	24192966	44	1060										
C19orf55	148137	broad.mit.edu	37	chr19	36259088	36259088	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	agcgagttccaggacgatccCgtgctgcaggtgctaagagc	14	11	0	1			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr19:36259088C>G	ENST00000544099.1	+	10	1315	c.1252C>G	c.(1252-1254)Cgt>Ggt	p.R418G	C19orf55_ENST00000396908.4_Silent_p.P416P|AC002398.13_ENST00000589397.1_RNA			Q2NL68	PRSR3_HUMAN		0										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGACGATCCCGTGCTGCAGG	0.632																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(1252-1254)Cgt>Ggt		chromosome 19 open reading frame 55							32	38	36					19																	36259088		1966	4166	6132	SO:0001583	missense	148137							g.chr19:36259088C>G																												ENST00000544099.1:c.1252C>G	19.37:g.36259088C>G	ENSP00000467267:p.Arg418Gly		Somatic				C19orf55_ENST00000396908.4_Silent_p.P416P	p.R418G			WXS	Illumina GAIIx	Phase_I	Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		10	1315	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		0					Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	ENST00000544099.1	37	c.1252C>G																																																																																					0.632	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			4	35	0	0	0	1	0	4	35					G	36259088	C	G	36259088	3	3	15	1	0	0	0	0	1	0	0	0	1939	652	23	5	1290	5	C19orf55	19	36259088	Missense_Mutation	SNP	C	TCGA-N6-A4V9-01A-11D-A28R-08	1323071	36259088	22869895	45	1061										
KCNB1	3745	broad.mit.edu	37	chr20	47990733	47990733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	ccatcatctcaatgctccggGcaaaagcatccttcatgttc	6	14	3	0			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr20:47990733G>A	ENST00000371741.4	-	2	1530	c.1364C>T	c.(1363-1365)gCc>gTc	p.A455V		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	455					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	AATGCTCCGGGCAAAAGCATC	0.458																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(1363-1365)gCc>gTc		potassium voltage-gated channel, Shab-related subfamily, member 1							172	159	163					20																	47990733		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47990733G>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1364C>T	20.37:g.47990733G>A	ENSP00000360806:p.Ala455Val		Somatic					p.A455V	NM_004975.2	NP_004966.1	WXS	Illumina GAIIx	Phase_I	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1530	-			455					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.1364C>T	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.590162	0.66105	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96967	-4.19	5.77	5.77	0.91146	.	0.241259	0.40640	N	0.001044	D	0.97936	0.9321	M	0.75264	2.295	0.53005	D	0.999967	D	0.69078	0.997	D	0.66847	0.947	D	0.98162	1.0447	10	0.72032	D	0.01	.	19.9576	0.97228	0.0:0.0:1.0:0.0	.	455	Q14721	KCNB1_HUMAN	V	455;410	ENSP00000360806:A455V	ENSP00000360806:A455V	A	-	2	0	KCNB1	47424140	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	4.411000	0.59781	2.884000	0.98904	0.655000	0.94253	GCC		0.458	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		4	131	0	0	0	1	0	4	131					A	47990733	G	A	47990733	3	1	15	1	0	0	0	0	1	0	0	0	8021	1203	42	3	1216	3	KCNB1	20	47990733	Missense_Mutation	SNP	G	TCGA-N6-A4V9-01A-11D-A28R-08		47990733	15034787	46	1062										
TNMD	64102	broad.mit.edu	37	chrX	99852508	99852508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0425531914893617	2	1	0.660869565217391	0	0.894117647058824	0.428571428571429	1	0	tttcttctttcagaatgaagAaattaccacaactttctttg	4	8	4	3			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chrX:99852508A>G	ENST00000373031.4	+	5	648	c.431A>G	c.(430-432)gAa>gGa	p.E144G	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	144	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						CAGAATGAAGAAATTACCACA	0.358																																						ENST00000373031.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						c.(430-432)gAa>gGa		tenomodulin							64	61	62					X																	99852508		2203	4300	6503	SO:0001583	missense	64102					integral to membrane		g.chrX:99852508A>G	AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"BRICHOS domain containing"	17757	protein-coding gene	gene with protein product	"BRICHOS domain containing 4"	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.431A>G	X.37:g.99852508A>G	ENSP00000362122:p.Glu144Gly		Somatic				TNMD_ENST00000485971.1_3'UTR	p.E144G	NM_022144.2	NP_071427.2	WXS	Illumina GAIIx	Phase_I	Q9H2S6	TNMD_HUMAN			5	648	+			144			BRICHOS.		Q9HBX0|Q9UJG0	Missense_Mutation	SNP	ENST00000373031.4	37	c.431A>G	CCDS14469.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.248892	0.39797	.	.	ENSG00000000005	ENST00000373031	T	0.78707	-1.2	5.98	4.75	0.60458	BRICHOS (2);	0.361069	0.31188	N	0.008098	T	0.70518	0.3233	L	0.44542	1.39	0.50632	D	0.999885	P	0.38300	0.626	B	0.37650	0.255	T	0.72984	-0.4125	10	0.51188	T	0.08	-31.7208	11.9047	0.52703	0.8568:0.1432:0.0:0.0	.	144	Q9H2S6	TNMD_HUMAN	G	144	ENSP00000362122:E144G	ENSP00000362122:E144G	E	+	2	0	TNMD	99739164	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.719000	0.47244	2.002000	0.58637	0.486000	0.48141	GAA		0.358	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057481.1	NM_022144		20	19	0	0	0	1	0	20	19					G	99852508	A	G	99852508	3	3	15	1	0	0	0	0	1	0	0	0	16337	246	9	4	449	4	TNMD	23	99852508	Missense_Mutation	SNP	A	TCGA-N6-A4V9-01A-11D-A28R-08		99852508	55418052	47	1063										
EPS15	2060	broad.mit.edu	37	chr1	51826976	51826976	+	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	ctgggaaaggctgaaatggaTcattcagtttaaagggatca	12	5	3	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:51826976T>C	ENST00000371733.3	-	24	2507	c.2411A>G	c.(2410-2412)gAt>gGt	p.D804G	EPS15_ENST00000371730.2_Missense_Mutation_p.D670G|EPS15_ENST00000396122.4_Missense_Mutation_p.D481G	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	804	15 X 3 AA repeats of D-P-F.|Pro-rich.				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						CTGAAATGGATCATTCAGTTT	0.368			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.(2410-2412)gAt>gGt		epidermal growth factor receptor pathway substrate 15							133	118	123					1																	51826976		2203	4300	6503	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51826976T>C	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.2411A>G	1.37:g.51826976T>C	ENSP00000360798:p.Asp804Gly		Somatic				EPS15_ENST00000396122.4_Missense_Mutation_p.D481G|EPS15_ENST00000371730.2_Missense_Mutation_p.D670G	p.D804G	NM_001981.2	NP_001972.1	WXS	Illumina GAIIx	Phase_I	P42566	EPS15_HUMAN			24	2507	-			804			15 X 3 AA repeats of D-P-F.|Pro-rich.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.2411A>G	CCDS557.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.726247	0.48833	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.59638	0.25;0.25;0.25	5.85	5.85	0.93711	.	.	.	.	.	T	0.72391	0.3454	L	0.57536	1.79	0.50813	D	0.999897	D;B;D	0.89917	0.997;0.062;1.0	D;B;D	0.91635	0.989;0.028;0.999	T	0.73011	-0.4117	9	0.49607	T	0.09	.	14.8025	0.69926	0.0:0.0:0.0:1.0	.	670;804;490	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	G	670;804;481	ENSP00000360795:D670G;ENSP00000360798:D804G;ENSP00000379428:D481G	ENSP00000360795:D670G	D	-	2	0	EPS15	51599564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.169000	0.64984	2.230000	0.72887	0.482000	0.46254	GAT		0.368	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		10	83	0	0	0	1	0	10	83					C	51826976	T	C	51826976	3	2	16	1	0	0	0	0	1	0	0	0	5194	1435	50	4	287	4	EPS15	1	51826976	Missense_Mutation	SNP	T	TCGA-N6-A4VC-01A-11D-A28R-08		51826976	197423645	1	1064										
LPHN2	23266	broad.mit.edu	37	chr1	82416095	82416095	+	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	attctgtgaagcattagactCcaaggggataaagtggcctc	11	8	1	2			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:82416095C>G	ENST00000370728.1	+	9	2066	c.1421C>G	c.(1420-1422)tCc>tGc	p.S474C	LPHN2_ENST00000370725.1_Missense_Mutation_p.S474C|LPHN2_ENST00000370727.1_Missense_Mutation_p.S474C|LPHN2_ENST00000394879.1_Missense_Mutation_p.S474C|LPHN2_ENST00000370721.1_Missense_Mutation_p.S412C|LPHN2_ENST00000370717.2_Missense_Mutation_p.S474C|LPHN2_ENST00000370723.1_Missense_Mutation_p.S474C|LPHN2_ENST00000370713.1_Missense_Mutation_p.S474C|LPHN2_ENST00000370730.1_Missense_Mutation_p.S474C|LPHN2_ENST00000335786.5_Missense_Mutation_p.S474C|LPHN2_ENST00000370715.1_Missense_Mutation_p.S474C|LPHN2_ENST00000319517.6_Missense_Mutation_p.S474C|LPHN2_ENST00000271029.4_Missense_Mutation_p.S474C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Missense_Mutation_p.S474C			O95490	LPHN2_HUMAN	latrophilin 2	474					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GCATTAGACTCCAAGGGGATA	0.428																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(1420-1422)tCc>tGc		latrophilin 2							83	86	85					1																	82416095		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82416095C>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.1421C>G	1.37:g.82416095C>G	ENSP00000359763:p.Ser474Cys		Somatic				LPHN2_ENST00000370723.1_Missense_Mutation_p.S474C|LPHN2_ENST00000394879.1_Missense_Mutation_p.S474C|LPHN2_ENST00000370725.1_Missense_Mutation_p.S474C|LPHN2_ENST00000370717.2_Missense_Mutation_p.S474C|LPHN2_ENST00000370727.1_Missense_Mutation_p.S474C|LPHN2_ENST00000370730.1_Missense_Mutation_p.S474C|LPHN2_ENST00000335786.5_Missense_Mutation_p.S474C|LPHN2_ENST00000271029.4_Missense_Mutation_p.S474C|LPHN2_ENST00000359929.3_Missense_Mutation_p.S474C|LPHN2_ENST00000370715.1_Missense_Mutation_p.S474C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.S474C|LPHN2_ENST00000370721.1_Missense_Mutation_p.S412C|LPHN2_ENST00000370713.1_Missense_Mutation_p.S474C	p.S474C			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)	9	2066	+			474					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1421C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.36|10.36	1.327579|1.327579	0.24080|0.24080	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.53423	.|0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.88|5.88	4.01|4.01	0.46588|0.46588	.|.	.|0.715502	.|0.14430	.|N	.|0.320054	T|T	0.24005|0.24005	0.0581|0.0581	L|L	0.34521|0.34521	1.04|1.04	0.23724|0.23724	N|N	0.997018|0.997018	.|B;B;B	.|0.29232	.|0.131;0.208;0.238	.|B;B;B	.|0.36378	.|0.025;0.019;0.223	T|T	0.28299|0.28299	-1.0048|-1.0048	5|10	.|0.62326	.|D	.|0.03	.|.	11.6179|11.6179	0.51099|0.51099	0.0:0.808:0.1252:0.0667|0.0:0.808:0.1252:0.0667	.|.	.|474;474;474	.|O95490-3;O95490-4;O95490-2	.|.;.;.	A|C	342|412;474;474;474;474;474;474;474;474;474;474;474;474;474	.|ENSP00000359756:S412C;ENSP00000359763:S474C;ENSP00000359765:S474C;ENSP00000359762:S474C;ENSP00000359760:S474C;ENSP00000359758:S474C;ENSP00000353006:S474C;ENSP00000359750:S474C;ENSP00000359748:S474C;ENSP00000322270:S474C;ENSP00000359752:S474C;ENSP00000378344:S474C;ENSP00000271029:S474C;ENSP00000337306:S474C	.|ENSP00000271029:S474C	P|S	+|+	1|2	0|0	LPHN2|LPHN2	82188683|82188683	0.989000|0.989000	0.36119|0.36119	0.165000|0.165000	0.22776|0.22776	0.678000|0.678000	0.39670|0.39670	1.810000|1.810000	0.38932|0.38932	0.814000|0.814000	0.34374|0.34374	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.428	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		35	26	0	0	0	1	0	35	26					G	82416095	C	G	82416095	3	3	16	1	0	0	0	0	1	0	0	0	8925	855	30	2	1439	2	LPHN2	1	82416095	Missense_Mutation	SNP	C	TCGA-N6-A4VC-01A-11D-A28R-08	30589119	82416095	166834526	2	1065										
PKN2	5586	broad.mit.edu	37	chr1	89279373	89279373	+	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	atgctgccggtggggacctaAtgatgcacattcatactgat	11	9	1	2			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:89279373A>G	ENST00000370521.3	+	16	2595	c.2236A>G	c.(2236-2238)Atg>Gtg	p.M746V	PKN2_ENST00000370505.3_Missense_Mutation_p.M589V|PKN2_ENST00000370513.5_Missense_Mutation_p.M698V|PKN2_ENST00000544045.1_Missense_Mutation_p.M420V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	746	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGGGGACCTAATGATGCACAT	0.403																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(2236-2238)Atg>Gtg		protein kinase N2							222	203	209					1																	89279373		1923	4149	6072	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89279373A>G	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"cardiolipin-activated protein kinase Pak2"	602549	"protein kinase C-like 2"	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2236A>G	1.37:g.89279373A>G	ENSP00000359552:p.Met746Val		Somatic				PKN2_ENST00000544045.1_Missense_Mutation_p.M420V|PKN2_ENST00000370505.3_Missense_Mutation_p.M589V|PKN2_ENST00000370513.5_Missense_Mutation_p.M698V	p.M746V	NM_006256.2	NP_006247.1	WXS	Illumina GAIIx	Phase_I	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	16	2595	+		Lung NSC(277;0.123)	746			Protein kinase.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.2236A>G	CCDS714.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904428	0.52333	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	U	0.000042	T	0.39172	0.1068	N	0.25201	0.72	0.58432	D	0.999999	B;B;B	0.26547	0.152;0.077;0.079	B;B;B	0.30646	0.118;0.033;0.027	T	0.49341	-0.8950	10	0.87932	D	0	.	15.4365	0.75152	1.0:0.0:0.0:0.0	.	730;698;746	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	V	746;589;698;420	ENSP00000359552:M746V;ENSP00000359536:M589V;ENSP00000359544:M698V;ENSP00000439643:M420V	ENSP00000359536:M589V	M	+	1	0	PKN2	89051961	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.068000	0.61886	0.528000	0.53228	ATG		0.403	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		39	103	0	0	0	1	0	39	103					G	89279373	A	G	89279373	3	3	16	1	0	0	0	0	1	0	0	0	11989	101	4	4	2298	4	PKN2	1	89279373	Missense_Mutation	SNP	A	TCGA-N6-A4VC-01A-11D-A28R-08	6863278	89279373	159971248	3	1066										
C1orf103	55791	broad.mit.edu	37	chr1	111490764	111490764	+	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	tgttcataagctgcatttgaAttcaaagtgcctttctcttg	7	8	3	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:111490764A>T	ENST00000369763.4	-	4	2517	c.2127T>A	c.(2125-2127)aaT>aaA	p.N709K	LRIF1_ENST00000485275.2_Missense_Mutation_p.N173K|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Missense_Mutation_p.N173K	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	709					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CTGCATTTGAATTCAAAGTGC	0.378																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(2125-2127)aaT>aaA		ligand dependent nuclear receptor interacting factor 1							157	156	156					1																	111490764		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111490764A>T	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.2127T>A	1.37:g.111490764A>T	ENSP00000358778:p.Asn709Lys		Somatic				LRIF1_ENST00000494675.1_Missense_Mutation_p.N173K|LRIF1_ENST00000485275.2_Missense_Mutation_p.N173K|RP11-96K19.2_ENST00000440689.1_RNA	p.N709K	NM_018372.3	NP_060842.3	WXS	Illumina GAIIx	Phase_I	Q5T3J3	LRIF1_HUMAN			4	2517	-			709					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.2127T>A	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	A	6.829	0.522083	0.13005	.	.	ENSG00000121931	ENST00000369763;ENST00000494675;ENST00000485275	T;T;T	0.29917	1.97;1.55;1.55	5.71	4.58	0.56647	.	0.549745	0.18544	N	0.138114	T	0.09992	0.0245	L	0.36672	1.1	0.09310	N	1	B;B	0.29037	0.231;0.034	B;B	0.25291	0.059;0.025	T	0.13575	-1.0504	10	0.56958	D	0.05	0.0016	8.482	0.33049	0.9122:0.0:0.0878:0.0	.	173;709	Q5T3J3-2;Q5T3J3	.;LRIF1_HUMAN	K	709;173;173	ENSP00000358778:N709K;ENSP00000435259:N173K;ENSP00000432290:N173K	ENSP00000358778:N709K	N	-	3	2	LRIF1	111292287	0.005000	0.15991	0.016000	0.15963	0.122000	0.20287	0.582000	0.23834	1.001000	0.39076	0.482000	0.46254	AAT		0.378	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		35	103	0	0	0	1	0	35	103					T	111490764	A	T	111490764	3	4	16	1	0	0	0	0	1	0	0	0	1979	98	4	4	186	4	C1orf103	1	111490764	Missense_Mutation	SNP	A	TCGA-N6-A4VC-01A-11D-A28R-08	22211391	111490764	137759857	4	1067										
PAQR6	79957	broad.mit.edu	37	chr1	156213861	156213861	+	3'UTR	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	attaggcccaaatctgggctCctcgtcagcactggggcctg	12	13	2	0			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:156213861C>T	ENST00000292291.5	-	0	1252				PAQR6_ENST00000356983.2_Missense_Mutation_p.E283K|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000368270.1_3'UTR|PAQR6_ENST00000540423.1_3'UTR|PAQR6_ENST00000335852.1_Missense_Mutation_p.E283K	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI							integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					AATCTGGGCTCCTCGTCAGCA	0.652																																					GBM(16;219 398 12385 32425 38531)	ENST00000335852.1																			0				lung(4)|ovary(1)	5						c.(847-849)Gag>Aag		progestin and adipoQ receptor family member VI							137	138	138					1																	156213861		2203	4300	6503	SO:0001624	3_prime_UTR_variant	79957					integral to membrane	receptor activity	g.chr1:156213861C>T	AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.*59G>A	1.37:g.156213861C>T			Somatic				PAQR6_ENST00000540423.1_3'UTR|PAQR6_ENST00000360733.2_Missense_Mutation_p.E283K|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000368270.1_3'UTR|PAQR6_ENST00000356983.2_Missense_Mutation_p.E283K|PAQR6_ENST00000292291.5_3'UTR	p.E283K	NM_024897.2	NP_079173.2	WXS	Illumina GAIIx	Phase_I	Q6TCH4	PAQR6_HUMAN			7	1462	-	Hepatocellular(266;0.158)		290					B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Missense_Mutation	SNP	ENST00000292291.5	37	c.847G>A	CCDS1136.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522394	0.64747	.	.	ENSG00000160781	ENST00000360733;ENST00000335852;ENST00000356983	T;T;T	0.38240	1.15;1.15;1.15	3.05	3.05	0.35203	.	.	.	.	.	T	0.15132	0.0365	N	0.08118	0	0.80722	D	1	D;D;P	0.57257	0.979;0.979;0.463	P;P;B	0.50162	0.538;0.633;0.347	T	0.05818	-1.0862	9	0.87932	D	0	.	9.7123	0.40254	0.0:1.0:0.0:0.0	.	215;143;283	B4DJ42;Q7Z4Q8;Q6TCH4-2	.;.;.	K	283	ENSP00000353961:E283K;ENSP00000338330:E283K;ENSP00000349474:E283K	ENSP00000338330:E283K	E	-	1	0	PAQR6	154480485	0.008000	0.16893	0.970000	0.41538	0.350000	0.29205	0.193000	0.17116	1.721000	0.51461	0.462000	0.41574	GAG		0.652	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	NM_024897		88	130	0	0	0	1	0	88	130					T	156213861	C	T	156213861	1	4	16	0	1	0	0	0	0	0	0	0	11448	864	30	3		3	PAQR6	1	156213861	3'UTR	SNP	C	TCGA-N6-A4VC-01A-11D-A28R-08	44723097	156213861	93036760	5	1068										
FAM129A	116496	broad.mit.edu	37	chr1	184765126	184765126	+	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	cagggctggcctggtttgacCctgtggggggctttagatct	16	9	1	2			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:184765126C>G	ENST00000367511.3	-	14	1965	c.1772G>C	c.(1771-1773)gGg>gCg	p.G591A	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	591					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						CTGGTTTGACCCTGTGGGGGG	0.498																																						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.(1771-1773)gGg>gCg		family with sequence similarity 129, member A							61	67	65					1																	184765126		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184765126C>G	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1772G>C	1.37:g.184765126C>G	ENSP00000356481:p.Gly591Ala		Somatic				FAM129A_ENST00000487074.1_5'UTR	p.G591A	NM_052966.2	NP_443198.1	WXS	Illumina GAIIx	Phase_I	Q9BZQ8	NIBAN_HUMAN			14	1965	-			591					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.1772G>C	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035289	0.54896	.	.	ENSG00000135842	ENST00000367511	T	0.14640	2.49	5.81	5.81	0.92471	.	0.331771	0.34046	N	0.004313	T	0.31420	0.0796	L	0.60455	1.87	0.41835	D	0.990096	D	0.89917	1.0	D	0.91635	0.999	T	0.03840	-1.0999	10	0.06891	T	0.86	-15.7493	18.2631	0.90043	0.0:1.0:0.0:0.0	.	591	Q9BZQ8	NIBAN_HUMAN	A	591	ENSP00000356481:G591A	ENSP00000356481:G591A	G	-	2	0	FAM129A	183031749	0.996000	0.38824	0.985000	0.45067	0.302000	0.27658	3.968000	0.56809	2.746000	0.94184	0.655000	0.94253	GGG		0.498	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			72	78	0	0	0	1	0	72	78					G	184765126	C	G	184765126	3	3	16	1	0	0	0	0	1	0	0	0	5441	623	22	5	1018	5	FAM129A	1	184765126	Missense_Mutation	SNP	C	TCGA-N6-A4VC-01A-11D-A28R-08	28551265	184765126	64485495	6	1069										
ACTN2	88	broad.mit.edu	37	chr1	236906280	236906280	+	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	atgagattcggagactggagCgcttggaacacctggctgag	15	8	0	3	rs148189507		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:236906280C>T	ENST00000366578.4	+	11	1358	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.R398C|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	398					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGACTGGAGCGCTTGGAACA	0.522																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(1192-1194)Cgc>Tgc		actinin, alpha 2		C	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	117	110	112		1192	5.5	1	1	dbSNP_134	112	0,8600		0,0,4300	no	missense	ACTN2	NM_001103.2	180	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	398/895	236906280	3,13003	2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236906280C>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1192C>T	1.37:g.236906280C>T	ENSP00000355537:p.Arg398Cys		Somatic				ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.R398C	p.R398C	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	WXS	Illumina GAIIx	Phase_I	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		11	1358	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	398					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1192C>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097115	0.76870	6.81E-4	0.0	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.53640	0.61;0.61	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.74245	0.3691	M	0.91510	3.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.923;0.999;0.985	T	0.79685	-0.1700	10	0.87932	D	0	.	13.6984	0.62593	0.2557:0.7443:0.0:0.0	.	183;398;168;398	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	C	398;398;167	ENSP00000443495:R398C;ENSP00000355537:R398C	ENSP00000355537:R398C	R	+	1	0	ACTN2	234972903	1.000000	0.71417	0.993000	0.49108	0.955000	0.61496	3.146000	0.50631	2.721000	0.93114	0.655000	0.94253	CGC		0.522	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		31	57	0	0	0	1	0	31	57					T	236906280	C	T	236906280	3	4	16	1	0	0	0	0	1	0	0	0	205	768	27	1	1234	1	ACTN2	1	236906280	Missense_Mutation	SNP	C	TCGA-N6-A4VC-01A-11D-A28R-08	52141154	236906280	12344341	7	1070										
OR2T3	343173	broad.mit.edu	37	chr1	248637452	248637452	+	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	ttctacacctacatgctcccGagttcctaccacacagctga	5	16	1	1	rs370677701		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:248637452G>A	ENST00000359594.2	+	1	826	c.801G>A	c.(799-801)ccG>ccA	p.P267P		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	267						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(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)			ACATGCTCCCGAGTTCCTACC	0.547																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(799-801)ccG>ccA		olfactory receptor, family 2, subfamily T, member 3		G		1,4405		0,1,2202	367	345	352		801	-2.4	0	1		352	0,8600		0,0,4300	no	coding-synonymous	OR2T3	NM_001005495.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		267/319	248637452	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637452G>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.801G>A	1.37:g.248637452G>A			Somatic					p.P267P	NM_001005495.1	NP_001005495.1	WXS	Illumina GAIIx	Phase_I	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	826	+	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)		267					B2RNJ1	Silent	SNP	ENST00000359594.2	37	c.801G>A	CCDS31117.1																																																																																				0.547	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		50	318	0	0	0	1	0	50	318					A	248637452	G	A	248637452	2	1	16	1	0	0	0	0	0	0	0	1	11032	1045	37	1		1	OR2T3	1	248637452	Silent	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08	11731172	248637452	613169	8	1071										
MSH6	2956	broad.mit.edu	37	chr2	48018140	48018140	+	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	gtggccttgtctggtttacaAccacccctttgatggaacat	9	11	1	1	rs587779934		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr2:48018140A>G	ENST00000234420.5	+	2	487	c.335A>G	c.(334-336)aAc>aGc	p.N112S	MSH6_ENST00000540021.1_Intron|MSH6_ENST00000538136.1_5'UTR|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	112	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				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)			CTGGTTTACAACCACCCCTTT	0.473			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"Mis, N, F, S"	mutS homolog 6 (E. coli)			E		"colorectal, endometrial, ovarian"	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(334-336)aAc>aGc	Mismatch excision repair (MMR)	mutS homolog 6							118	111	113					2																	48018140		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.chr2:48018140A>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.335A>G	2.37:g.48018140A>G	ENSP00000234420:p.Asn112Ser		Somatic				MSH6_ENST00000540021.1_Intron|MSH6_ENST00000538136.1_5'UTR|FBXO11_ENST00000405808.1_Intron	p.N112S	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	487	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	112			PWWP.		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.335A>G	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457846	0.63401	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000446255;ENST00000455383;ENST00000420813;ENST00000411819	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.77	5.77	0.91146	PWWP (3);	0.103829	0.64402	D	0.000003	T	0.51822	0.1697	L	0.28192	0.835	0.80722	D	1	B;P	0.40909	0.41;0.732	B;B	0.35413	0.101;0.202	T	0.51513	-0.8696	10	0.20519	T	0.43	-23.6148	16.0985	0.81148	1.0:0.0:0.0:0.0	.	112;112	P52701;P52701-2	MSH6_HUMAN;.	S	112;110;112;13;13;13	ENSP00000234420:N112S;ENSP00000397484:N13S;ENSP00000390382:N13S;ENSP00000406248:N13S	ENSP00000234420:N112S	N	+	2	0	MSH6	47871644	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.657000	0.74402	2.197000	0.70478	0.455000	0.32223	AAC		0.473	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		60	90	0	0	0	1	0	60	90					G	48018140	A	G	48018140	3	3	16	1	0	0	0	0	1	0	0	0	9883	43	2	4	341	4	MSH6	2	48018140	Missense_Mutation	SNP	A	TCGA-N6-A4VC-01A-11D-A28R-08		48018140	195181233	9	1072										
CEP68	23177	broad.mit.edu	37	chr2	65299631	65299631	+	Frame_Shift_Del	DEL	G	G	-													0	0	1	0	0	0	1	1	0	cggcgccctacctgcacagaGtctaggtggaaatcagaaga							TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr2:65299631delG	ENST00000377990.2	+	3	1604	c.1401delG	c.(1399-1401)gagfs	p.E467fs	CEP68_ENST00000260569.4_Frame_Shift_Del_p.E467fs|CEP68_ENST00000546106.1_Frame_Shift_Del_p.E467fs|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_Frame_Shift_Del_p.E79fs|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	467					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						CCTGCACAGAGTCTAGGTGGA	0.592																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1399-1401)gafs		centrosomal protein 68kDa							64	69	68					2																	65299631		2203	4300	6503	SO:0001589	frameshift_variant	23177				centrosome organization	centrosome		g.chr2:65299631delG	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.1401delG	2.37:g.65299631delG	ENSP00000367229:p.Glu467fs		Somatic				RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Frame_Shift_Del_p.E467fs|CEP68_ENST00000546106.1_Frame_Shift_Del_p.E467fs|CEP68_ENST00000537589.1_Frame_Shift_Del_p.E79fs|CEP68_ENST00000497039.1_3'UTR	p.E467fs	NM_015147.2	NP_055962.2	WXS	Illumina GAIIx	Phase_I	Q76N32	CEP68_HUMAN			3	1604	+			467					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Frame_Shift_Del	DEL	ENST00000377990.2	37	c.1401delG	CCDS1880.2																																																																																				0.592	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		26	108						26	108	---	---	---	---	-	65299631	G	-	65299631	7	5	16	1	0	1	0	1	0	0	0	0	3260	1020	36	0	1407	0	CEP68	2	65299631	Frame_Shift_Del	DEL	G	TCGA-N6-A4VC-01A-11D-A28R-08	17281491	65299631	177899742	10	1073										
TTN	7273	broad.mit.edu	37	chr2	179449409	179449409	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aacataccaaatgggaactgCgcaaccatctttggagatgt	9	9	1	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr2:179449409C>A	ENST00000591111.1	-	260	60260	c.60036G>T	c.(60034-60036)gcG>gcT	p.A20012A	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.A21653A|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.A12780A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.A19085A|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.A12713A|TTN_ENST00000460472.2_Silent_p.A12588A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20012	Fibronectin type-III 44. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A19083A(1)|p.A12588A(1)|p.A19085A(1)|p.A12780A(1)|p.A12713A(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)			ATGGGAACTGCGCAACCATCT	0.433																																						ENST00000589042.1																			5	Substitution - coding silent(5)	p.A19083A(1)|p.A12588A(1)|p.A19085A(1)|p.A12780A(1)|p.A12713A(1)	cervix(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.(64957-64959)gcG>gcT		titin							173	169	170					2																	179449409		1883	4110	5993	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179449409C>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.60036G>T	2.37:g.179449409C>A			Somatic				TTN_ENST00000460472.2_Silent_p.A12588A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.A19085A|TTN_ENST00000342175.6_Silent_p.A12780A|TTN_ENST00000359218.5_Silent_p.A12713A|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.A20012A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA	p.A21653A	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)		310	65183	-			20012			Fibronectin type-III 57.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.64959G>T																																																																																					0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		67	230	1	0	1.85257e-25	1	2.04613e-25	67	230					A	179449409	C	A	179449409	2	1	16	1	0	0	0	0	0	0	0	1	16750	755	27	5		5	TTN	2	179449409	Silent	SNP	C	TCGA-N6-A4VC-01A-11D-A28R-08	114149778	179449409	63749964	11	1074										
ZNF662	389114	broad.mit.edu	37	chr3	42956577	42956577	+	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	cttacgaatgtaaggactgtGggaagggcttcatgtggaac	14	6	1	0			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr3:42956577G>A	ENST00000541208.1	+	5	1381	c.1012G>A	c.(1012-1014)Ggg>Agg	p.G338R	ZNF662_ENST00000328199.6_Missense_Mutation_p.G364R|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.G338R			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TAAGGACTGTGGGAAGGGCTT	0.488																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1012-1014)Ggg>Agg		zinc finger protein 662							90	84	86					3																	42956577		2203	4300	6503	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42956577G>A	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"Zinc fingers, C2H2-type", "-"	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.1012G>A	3.37:g.42956577G>A	ENSP00000446208:p.Gly338Arg		Somatic				ZNF662_ENST00000328199.6_Missense_Mutation_p.G364R|ZNF662_ENST00000440367.2_Missense_Mutation_p.G338R|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron	p.G338R			WXS	Illumina GAIIx	Phase_I	Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	5	1381	+			338					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.1012G>A	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388339	0.42308	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.58506	0.33;0.33;0.33	2.79	1.9	0.25705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69593	0.3128	M	0.84433	2.695	0.27909	N	0.938696	D;D	0.76494	0.999;0.999	P;P	0.56612	0.701;0.802	T	0.60722	-0.7207	9	0.51188	T	0.08	.	7.5985	0.28063	0.1352:0.0:0.8648:0.0	.	364;338	F8W7S8;Q6ZS27	.;ZN662_HUMAN	R	338;364;338	ENSP00000405047:G338R;ENSP00000329264:G364R;ENSP00000446208:G338R	ENSP00000329264:G364R	G	+	1	0	ZNF662	42931581	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	3.858000	0.55979	0.531000	0.28639	0.455000	0.32223	GGG		0.488	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		37	11	0	0	0	1	0	37	11					A	42956577	G	A	42956577	3	1	16	1	0	0	0	0	1	0	0	0	18086	1348	47	3	1213	3	ZNF662	3	42956577	Missense_Mutation	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08		42956577	155065853	12	1075										
IGSF10	285313	broad.mit.edu	37	chr3	151166217	151166217	+	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	ctcactgacataaggggctcTcactttacttccatcagcta	6	13	3	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr3:151166217T>C	ENST00000282466.3	-	4	1551	c.1552A>G	c.(1552-1554)Aga>Gga	p.R518G		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	518	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)			TAAGGGGCTCTCACTTTACTT	0.498																																						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.(1552-1554)Aga>Gga		immunoglobulin superfamily, member 10							164	165	164					3																	151166217		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166217T>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.1552A>G	3.37:g.151166217T>C	ENSP00000282466:p.Arg518Gly		Somatic					p.R518G	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	1551	-			518			Ig-like C2-type 1.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1552A>G	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.293125	0.60086	.	.	ENSG00000152580	ENST00000282466	T	0.68331	-0.32	4.76	4.76	0.60689	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.126939	0.35179	N	0.003396	T	0.70622	0.3245	L	0.37750	1.13	0.40455	D	0.980182	D	0.89917	1.0	D	0.79108	0.992	T	0.66968	-0.5789	10	0.19590	T	0.45	.	11.5662	0.50807	0.0:0.0:0.1489:0.851	.	518	Q6WRI0	IGS10_HUMAN	G	518	ENSP00000282466:R518G	ENSP00000282466:R518G	R	-	1	2	IGSF10	152648907	0.980000	0.34600	1.000000	0.80357	0.990000	0.78478	1.921000	0.40035	1.789000	0.52484	0.454000	0.30748	AGA		0.498	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		52	247	0	0	0	1	0	52	247					C	151166217	T	C	151166217	3	2	16	1	0	0	0	0	1	0	0	0	7606	1559	54	4	6379	4	IGSF10	3	151166217	Missense_Mutation	SNP	T	TCGA-N6-A4VC-01A-11D-A28R-08	108209640	151166217	46856213	13	1076										
ZNF732	654254	broad.mit.edu	37	chr4	264932	264932	+	Frame_Shift_Del	DEL	A	A	-													0	0	1	0	0	0	1	1	0	tttattatgttgattaaggtAtgaggaccacttaaaggctt							TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr4:264932delA	ENST00000419098.1	-	4	1724	c.1714delT	c.(1714-1716)tacfs	p.Y572fs		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	572					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						TGATTAAGGTATGAGGACCAC	0.348																																						ENST00000419098.1																			0				endometrium(1)|lung(2)	3						c.(1714-1716)acfs		zinc finger protein 732							39	35	36					4																	264932		692	1591	2283	SO:0001589	frameshift_variant	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:264932delA	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.1714delT	4.37:g.264932delA	ENSP00000415774:p.Tyr572fs		Somatic					p.Y572fs	NM_001137608.1	NP_001131080.1	WXS	Illumina GAIIx	Phase_I	B4DXR9	ZN732_HUMAN			4	1724	-			572						Frame_Shift_Del	DEL	ENST00000419098.1	37	c.1714delT	CCDS46990.1																																																																																				0.348	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		2	4						2	4	---	---	---	---	-	264932	A	-	264932	7	5	16	1	0	1	0	1	0	0	0	0	18138	449	16	0	47	0	ZNF732	4	264932	Frame_Shift_Del	DEL	A	TCGA-N6-A4VC-01A-11D-A28R-08		264932	190889344	14	1077										
ZAR1	326340	broad.mit.edu	37	chr4	48492843	48492843	+	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	ccatgcgcttcccgcgcaccGtcgccgtgtactcgcccctg	10	20	0	0			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr4:48492843G>A	ENST00000327939.4	+	1	575	c.535G>A	c.(535-537)Gtc>Atc	p.V179I		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	179					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						CCCGCGCACCGTCGCCGTGTA	0.761																																						ENST00000327939.4																			0				endometrium(1)|large_intestine(4)	5						c.(535-537)Gtc>Atc		zygote arrest 1							4	5	5					4																	48492843		1467	3149	4616	SO:0001583	missense	326340				multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity	g.chr4:48492843G>A	AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 6"	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.535G>A	4.37:g.48492843G>A	ENSP00000329803:p.Val179Ile		Somatic					p.V179I	NM_175619.1	NP_783318.1	WXS	Illumina GAIIx	Phase_I	Q86SH2	ZAR1_HUMAN			1	575	+			179						Missense_Mutation	SNP	ENST00000327939.4	37	c.535G>A	CCDS3483.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269719	0.40095	.	.	ENSG00000182223	ENST00000327939	.	.	.	3.55	-0.881	0.10607	.	0.316889	0.24876	U	0.034900	T	0.20618	0.0496	L	0.40543	1.245	0.25139	N	0.990512	B	0.31209	0.313	B	0.16722	0.016	T	0.07927	-1.0747	9	0.40728	T	0.16	0.4419	5.7121	0.17941	0.181:0.2999:0.519:0.0	.	179	Q86SH2	ZAR1_HUMAN	I	179	.	ENSP00000329803:V179I	V	+	1	0	ZAR1	48187600	0.358000	0.24947	0.003000	0.11579	0.005000	0.04900	0.730000	0.26043	-0.260000	0.09418	-0.339000	0.08088	GTC		0.761	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3			9	1	0	0	0	1	0	9	1					A	48492843	G	A	48492843	3	1	16	1	0	0	0	0	1	0	0	0	17530	1145	40	1	537	1	ZAR1	4	48492843	Missense_Mutation	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08	48227911	48492843	142661433	15	1078										
CEP135	9662	broad.mit.edu	37	chr4	56847395	56847395	+	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	atcttttcattctttaaggcTcaggaagaattatctgccct	6	9	5	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr4:56847395T>C	ENST00000257287.4	+	13	1753	c.1629T>C	c.(1627-1629)gcT>gcC	p.A543A		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	543					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)					TCTTTAAGGCTCAGGAAGAAT	0.318																																						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.(1627-1629)gcT>gcC		centrosomal protein 135kDa							74	77	76					4																	56847395		2202	4299	6501	SO:0001819	synonymous_variant	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56847395T>C	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.1629T>C	4.37:g.56847395T>C			Somatic					p.A543A	NM_025009.4	NP_079285.2	WXS	Illumina GAIIx	Phase_I	Q66GS9	CP135_HUMAN			13	1753	+	Glioma(25;0.08)|all_neural(26;0.101)		543					B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	ENST00000257287.4	37	c.1629T>C	CCDS33986.1																																																																																				0.318	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		23	30	0	0	0	1	0	23	30					C	56847395	T	C	56847395	2	2	16	1	0	0	0	0	0	0	0	1	3249	1538	54	4		4	CEP135	4	56847395	Silent	SNP	T	TCGA-N6-A4VC-01A-11D-A28R-08	8354552	56847395	134306881	16	1079										
FBXW7	55294	broad.mit.edu	37	chr4	153247303	153247303	+	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	cacagcggactgctgcaacaTgacccatcaaaacatgtaaa	7	12	1	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr4:153247303T>C	ENST00000281708.4	-	10	2728	c.1499A>G	c.(1498-1500)cAt>cGt	p.H500R	FBXW7_ENST00000603548.1_Missense_Mutation_p.H500R|FBXW7_ENST00000263981.5_Missense_Mutation_p.H420R|FBXW7_ENST00000393956.3_Missense_Mutation_p.H324R|FBXW7_ENST00000603841.1_Missense_Mutation_p.H500R|FBXW7_ENST00000296555.5_Missense_Mutation_p.H382R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	500					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCTGCAACATGACCCATCAA	0.463			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1498-1500)cAt>cGt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							158	148	151					4																	153247303		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247303T>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1499A>G	4.37:g.153247303T>C	ENSP00000281708:p.His500Arg		Somatic				FBXW7_ENST00000393956.3_Missense_Mutation_p.H324R|FBXW7_ENST00000263981.5_Missense_Mutation_p.H420R|FBXW7_ENST00000296555.5_Missense_Mutation_p.H382R|FBXW7_ENST00000603548.1_Missense_Mutation_p.H500R|FBXW7_ENST00000603841.1_Missense_Mutation_p.H500R	p.H500R	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			10	2728	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	500					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1499A>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.593052	0.66219	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.59	5.59	0.84812	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	0.93488	0.7922	H	0.97291	3.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95672	0.8724	10	0.87932	D	0	-18.2384	16.0624	0.80847	0.0:0.0:0.0:1.0	.	324;500;382;420	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	R	500;382;420;324	ENSP00000281708:H500R;ENSP00000296555:H382R;ENSP00000263981:H420R;ENSP00000377528:H324R	ENSP00000263981:H420R	H	-	2	0	FBXW7	153466753	1.000000	0.71417	0.977000	0.42913	0.424000	0.31475	7.965000	0.87945	2.250000	0.74265	0.455000	0.32223	CAT		0.463	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			68	65	0	0	0	1	0	68	65					C	153247303	T	C	153247303	3	2	16	1	0	0	0	0	1	0	0	0	5777	1464	51	4	636	4	FBXW7	4	153247303	Missense_Mutation	SNP	T	TCGA-N6-A4VC-01A-11D-A28R-08	96399908	153247303	37906973	17	1080										
GABRB2	2561	broad.mit.edu	37	chr5	160721270	160721270	+	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	atgtcgttccagagcatttcGgccaaaactatgcctgggca	10	11	0	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr5:160721270G>A	ENST00000393959.1	-	10	1356	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	GABRB2_ENST00000520240.1_Nonsense_Mutation_p.R415*|GABRB2_ENST00000274547.2_Nonsense_Mutation_p.R453*|GABRB2_ENST00000517547.1_Nonsense_Mutation_p.R255*|GABRB2_ENST00000353437.6_Nonsense_Mutation_p.R415*|GABRB2_ENST00000517901.1_Nonsense_Mutation_p.R352*			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	453					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)	AGAGCATTTCGGCCAAAACTA	0.532																																						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.(1357-1359)Cga>Tga		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						106	95	99					5																	160721270		2203	4300	6503	SO:0001587	stop_gained	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160721270G>A		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.1357C>T	5.37:g.160721270G>A	ENSP00000377531:p.Arg453*		Somatic				GABRB2_ENST00000517901.1_Nonsense_Mutation_p.R352*|GABRB2_ENST00000393959.1_Nonsense_Mutation_p.R453*|GABRB2_ENST00000517547.1_Nonsense_Mutation_p.R255*|GABRB2_ENST00000520240.1_Nonsense_Mutation_p.R415*|GABRB2_ENST00000353437.6_Nonsense_Mutation_p.R415*	p.R453*	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)		11	1574	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	453					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Nonsense_Mutation	SNP	ENST00000393959.1	37	c.1357C>T	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	37	6.403265	0.97537	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	.	.	.	5.74	2.9	0.33743	.	0.463565	0.23088	N	0.052073	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	9.2615	0.37614	0.0674:0.0:0.6539:0.2787	.	.	.	.	X	453;453;415;415;352;255	.	ENSP00000274547:R453X	R	-	1	2	GABRB2	160653848	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	5.513000	0.67037	0.301000	0.22738	-0.284000	0.09977	CGA		0.532	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			47	48	0	0	0	1	0	47	48					A	160721270	G	A	160721270	4	1	16	1	0	0	0	0	0	1	0	0	6175	1124	39	1	185	1	GABRB2	5	160721270	Nonsense_Mutation	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08		160721270	20193990	18	1081										
DSP	1832	broad.mit.edu	37	chr6	7585589	7585589	+	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	cagaaagccttcataggcttCgagggtgtgaagggaaagaa	14	6	1	3			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr6:7585589C>T	ENST00000379802.3	+	24	8435	c.8094C>T	c.(8092-8094)ttC>ttT	p.F2698F	DSP_ENST00000418664.2_Silent_p.F2099F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2698	4.5 X 38 AA tandem repeats (Domain C).|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)		TCATAGGCTTCGAGGGTGTGA	0.557																																						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.(8092-8094)ttC>ttT		desmoplakin							120	123	122					6																	7585589		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585589C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8094C>T	6.37:g.7585589C>T			Somatic				DSP_ENST00000418664.2_Silent_p.F2099F	p.F2698F	NM_004415.2	NP_004406.2	WXS	Illumina GAIIx	Phase_I	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8435	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2698			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.8094C>T	CCDS4501.1																																																																																				0.557	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		65	243	0	0	0	1	0	65	243					T	7585589	C	T	7585589	2	4	16	1	0	0	0	0	0	0	0	1	4783	883	31	1		1	DSP	6	7585589	Silent	SNP	C	TCGA-N6-A4VC-01A-11D-A28R-08		7585589	163529478	19	1082										
NFKBIL1	4795	broad.mit.edu	37	chr6	31526160	31526160	+	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	gtgccctggccctgccctggGggaggggacccagaggccat	17	14	0	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr6:31526160G>A	ENST00000376148.4	+	4	1032	c.918G>A	c.(916-918)ggG>ggA	p.G306G	NFKBIL1_ENST00000376145.4_Silent_p.G291G	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	306					cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of transcription factor (GO:0042994)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)	cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CCTGCCCTGGGGGAGGGGACC	0.697																																						ENST00000376148.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(916-918)ggG>ggA		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1							4	4	4					6																	31526160		1413	2545	3958	SO:0001819	synonymous_variant	4795				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:31526160G>A	X77909	CCDS4700.1, CCDS47399.1, CCDS47400.1	6p21.3	2010-02-17			ENSG00000204498	ENSG00000204498			7800	protein-coding gene	gene with protein product		601022		NFKBIL		8081366	Standard	NM_005007		Approved	IKBL	uc003nub.3	Q9UBC1	OTTHUMG00000031038	ENST00000376148.4:c.918G>A	6.37:g.31526160G>A			Somatic				NFKBIL1_ENST00000376145.4_Silent_p.G291G	p.G306G	NM_005007.3	NP_004998.3	WXS	Illumina GAIIx	Phase_I	Q9UBC1	IKBL1_HUMAN			4	1032	+			306					A6NL91|B4DUW1|Q14625|Q5HYU4|Q5RJ72|Q5ST96|Q5STV4|Q5STV5|Q9UBX4	Silent	SNP	ENST00000376148.4	37	c.918G>A	CCDS4700.1																																																																																				0.697	NFKBIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076036.3	NM_005007		4	6	0	0	0	1	0	4	6					A	31526160	G	A	31526160	2	1	16	1	0	0	0	0	0	0	0	1	10390	1219	43	3		3	NFKBIL1	6	31526160	Silent	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08	23940571	31526160	139588907	20	1083										
C6orf138	442213	broad.mit.edu	37	chr6	47847369	47847369	+	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	aagggatcttacagcaaaagAtgctgtggtagcggttttgc	13	6	1	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr6:47847369A>T	ENST00000339488.4	-	3	1244	c.1211T>A	c.(1210-1212)aTc>aAc	p.I404N		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	404						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										ACAGCAAAAGATGCTGTGGTA	0.468																																						ENST00000339488.4																			0											c.(1210-1212)aTc>aAc		patched domain containing 4							92	85	87					6																	47847369		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847369A>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.1211T>A	6.37:g.47847369A>T	ENSP00000341914:p.Ile404Asn		Somatic					p.I404N	NM_001013732.3	NP_001013754.3	WXS	Illumina GAIIx	Phase_I	Q6ZW05	CF138_HUMAN			3	1244	-			404					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.1211T>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	A	16.57	3.160661	0.57368	.	.	ENSG00000244694	ENST00000339488	D	0.85861	-2.04	5.01	5.01	0.66863	.	0.117354	0.56097	D	0.000021	T	0.73644	0.3613	L	0.40543	1.245	0.80722	D	1	B	0.34015	0.435	B	0.35039	0.194	T	0.78876	-0.2031	10	0.66056	D	0.02	.	14.738	0.69430	1.0:0.0:0.0:0.0	.	404	Q6ZW05	CF138_HUMAN	N	404	ENSP00000341914:I404N	ENSP00000341914:I404N	I	-	2	0	C6orf138	47955328	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	1.895000	0.54865	0.528000	0.53228	ATC		0.468	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		6	45	0	0	0	1	0	6	45					T	47847369	A	T	47847369	3	4	16	1	0	0	0	0	1	0	0	0	2334	333	12	4	1333	4	C6orf138	6	47847369	Missense_Mutation	SNP	A	TCGA-N6-A4VC-01A-11D-A28R-08	16321209	47847369	123267698	21	1084										
LPA	4018	broad.mit.edu	37	chr6	160977179	160977179	+	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	taactctggccattaccatgGtagcactgccggaccacagg	10	13	1	0			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr6:160977179G>A	ENST00000316300.5	-	30	4895	c.4851C>T	c.(4849-4851)taC>taT	p.Y1617Y	LPA_ENST00000447678.1_Silent_p.Y1617Y			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4125	Kringle 15. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CATTACCATGGTAGCACTGCC	0.468																																						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.(4849-4851)taC>taT		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						131	134	133					6																	160977179		2179	4299	6478	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.chr6:160977179G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4851C>T	6.37:g.160977179G>A			Somatic				LPA_ENST00000316300.5_Silent_p.Y1617Y	p.Y1617Y	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)	31	4971	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4125			Kringle 15.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.4851C>T	CCDS43523.1																																																																																				0.468	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		36	77	0	0	0	1	0	36	77					A	160977179	G	A	160977179	2	1	16	1	0	0	0	0	0	0	0	1	8912	1256	44	3		3	LPA	6	160977179	Silent	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08	113129810	160977179	10137888	22	1085										
THSD7A	221981	broad.mit.edu	37	chr7	11676068	11676068	+	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	ctggattggcacacctggaaCtccgtcaggtttggacagcc	12	12	1	0			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr7:11676068C>G	ENST00000423059.4	-	2	962	c.711G>C	c.(709-711)gaG>gaC	p.E237D	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	237	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)		ACACCTGGAACTCCGTCAGGT	0.657										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(709-711)gaG>gaC		thrombospondin, type I, domain containing 7A							35	35	35					7																	11676068		2061	4208	6269	SO:0001583	missense	221981					integral to membrane		g.chr7:11676068C>G		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.711G>C	7.37:g.11676068C>G	ENSP00000406482:p.Glu237Asp	HNSCC(18;0.044)	Somatic					p.E237D	NM_015204.2	NP_056019.1	WXS	Illumina GAIIx	Phase_I	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	962	-			237			TSP type-1 2.			Missense_Mutation	SNP	ENST00000423059.4	37	c.711G>C	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	9.883	1.202235	0.22121	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.22539	1.95	5.62	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	L	0.45352	1.415	0.51482	D	0.999924	B	0.27823	0.19	B	0.34385	0.181	T	0.08391	-1.0724	10	0.32370	T	0.25	.	4.19	0.10416	0.1536:0.5363:0.0:0.3102	.	237	Q9UPZ6	THS7A_HUMAN	D	237	ENSP00000406482:E237D	ENSP00000262042:E237D	E	-	3	2	THSD7A	11642593	0.856000	0.29760	0.999000	0.59377	0.237000	0.25408	0.007000	0.13174	0.848000	0.35191	-0.237000	0.12165	GAG		0.657	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		13	16	0	0	0	1	0	13	16					G	11676068	C	G	11676068	3	3	16	1	0	0	0	0	1	0	0	0	15894	564	20	5	4366	5	THSD7A	7	11676068	Missense_Mutation	SNP	C	TCGA-N6-A4VC-01A-11D-A28R-08		11676068	147462595	23	1086										
KRIT1	889	broad.mit.edu	37	chr7	91851246	91851246	+	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	acttccaagggaagtctcacAtctcttcttagaaaaagctg	7	10	3	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr7:91851246A>T	ENST00000340022.2	-	14	2551	c.1533T>A	c.(1531-1533)gaT>gaA	p.D511E	KRIT1_ENST00000412043.2_Missense_Mutation_p.D511E|KRIT1_ENST00000394507.1_Missense_Mutation_p.D511E|KRIT1_ENST00000394503.2_Missense_Mutation_p.D463E|KRIT1_ENST00000394505.2_Missense_Mutation_p.D511E	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	511	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)			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)			GAAGTCTCACATCTCTTCTTA	0.368																																						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.(1531-1533)gaT>gaA		KRIT1, ankyrin repeat containing							80	79	79					7																	91851246		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.chr7:91851246A>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.1533T>A	7.37:g.91851246A>T	ENSP00000344668:p.Asp511Glu		Somatic				KRIT1_ENST00000394503.2_Missense_Mutation_p.D463E|KRIT1_ENST00000394505.2_Missense_Mutation_p.D511E|KRIT1_ENST00000412043.2_Missense_Mutation_p.D511E|KRIT1_ENST00000340022.2_Missense_Mutation_p.D511E	p.D511E	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)		15	2316	-	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)		511			FERM.|Required for RAP1A binding.		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	c.1533T>A	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.169489	0.78452	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227	T;T;T;T;T	0.70282	1.0;1.0;1.0;1.0;-0.47	5.62	4.48	0.54585	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.79323	0.4426	L	0.53249	1.67	0.58432	D	0.999997	D;D;D	0.76494	0.994;0.999;0.994	D;D;D	0.78314	0.97;0.991;0.97	T	0.79455	-0.1796	10	0.62326	D	0.03	6.0785	11.2884	0.49234	0.9287:0.0:0.0713:0.0	.	511;463;511	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	E	511;511;511;511;463;511	ENSP00000378015:D511E;ENSP00000344668:D511E;ENSP00000410909:D511E;ENSP00000378013:D511E;ENSP00000378011:D463E	ENSP00000344668:D511E	D	-	3	2	KRIT1	91689182	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.256000	0.51492	0.975000	0.38392	0.386000	0.25728	GAT		0.368	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			3	21	0	0	0	1	0	3	21					T	91851246	A	T	91851246	3	4	16	1	0	0	0	0	1	0	0	0	8454	214	8	4	701	4	KRIT1	7	91851246	Missense_Mutation	SNP	A	TCGA-N6-A4VC-01A-11D-A28R-08	80175178	91851246	67287417	24	1087										
POTEA	340441	broad.mit.edu	37	chr8	43157250	43157250	+	RNA	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	tgcagtttctagtcatcataGtatgtaagtgtttacattaa	7	5	3	0			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr8:43157250G>A	ENST00000522175.2	+	0	697				RNU6-104P_ENST00000459597.1_RNA			Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGTCATCATAGTATGTAAGTG	0.289																																						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							84	83	84					8																	43157250		1984	4181	6165			340441							g.chr8:43157250G>A	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33893	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 3"	608915	"ANKRD26-like family A, member 1"	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43157250G>A			Somatic								WXS	Illumina GAIIx	Phase_I	Q6S8J7	POTEA_HUMAN			0	697	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.289	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		3	31	0	0	0	1	0	3	31					A	43157250	G	A	43157250	1	1	16	0	1	0	0	0	0	0	0	0	12270	1029	36	3		3	POTEA	8	43157250	RNA	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08		43157250	103206772	25	1088										
EXOSC3	51010	broad.mit.edu	37	chr9	37785000	37785000	+	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	cgtgcagcgcgcgccctgctGcccgcgagagattcagccgc	14	17	1	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr9:37785000G>A	ENST00000327304.5	-	1	54	c.42C>T	c.(40-42)ggC>ggT	p.G14G	EXOSC3_ENST00000396521.3_Silent_p.G14G|RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000490516.1_5'Flank	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	14					CUT catabolic process (GO:0071034)|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)|positive regulation of isotype switching (GO:0045830)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		GCGCCCTGCTGCCCGCGAGAG	0.682																																						ENST00000327304.5																			0				breast(2)|endometrium(1)|kidney(1)	4						c.(40-42)ggC>ggT		exosome component 3							21	21	21					9																	37785000		2201	4298	6499	SO:0001819	synonymous_variant	51010				CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr9:37785000G>A	BC002437	CCDS35016.1, CCDS43805.1	9p11	2009-01-20			ENSG00000107371	ENSG00000107371			17944	protein-coding gene	gene with protein product	"exosome component Rrp40", "CGI-102 protein"	606489				10810093, 11110791	Standard	NM_016042		Approved	hRrp40p, Rrp40p, RRP40, CGI-102, p10, hRrp-40	uc004aal.3	Q9NQT5	OTTHUMG00000019932	ENST00000327304.5:c.42C>T	9.37:g.37785000G>A			Somatic				RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000396521.3_Silent_p.G14G	p.G14G	NM_016042.3	NP_057126.2	WXS	Illumina GAIIx	Phase_I	Q9NQT5	EXOS3_HUMAN		GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)	1	54	-			14					A8K0K6|Q5QP85|Q9Y3A8	Silent	SNP	ENST00000327304.5	37	c.42C>T	CCDS35016.1																																																																																				0.682	EXOSC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052478.3	NM_016042		29	2	0	0	0	1	0	29	2					A	37785000	G	A	37785000	2	1	16	1	0	0	0	0	0	0	0	1	5318	1306	46	3		3	EXOSC3	9	37785000	Silent	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08		37785000	103428431	26	1089										
FCN1	2219	broad.mit.edu	37	chr9	137808192	137808192	+	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	tccccacccggcccgcacctAcctctctctccaatgacacc	4	23	2	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr9:137808192A>G	ENST00000371806.3	-	2	309		c.e2+1			NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1						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)			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)		GCCCGCACCTACCTCTCTCTC	0.657																																						ENST00000371806.3																			0				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.e2+1		ficolin (collagen/fibrinogen domain containing) 1							83	99	94					9																	137808192		2203	4299	6502	SO:0001630	splice_region_variant	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137808192A>G	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.217+1T>C	9.37:g.137808192A>G			Somatic						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)	2	309	-		Myeloproliferative disorder(178;0.0333)						Q5VYV5|Q92596	Splice_Site	SNP	ENST00000371806.3	37		CCDS6985.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.574844	0.28092	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3888	0.38361	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FCN1	136948013	0.991000	0.36638	0.304000	0.25085	0.012000	0.07955	3.312000	0.51927	1.773000	0.52216	0.519000	0.50382	.		0.657	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003	Intron	17	238	0	0	0	1	0	17	238					G	137808192	A	G	137808192	5	3	16	1	0	0	0	0	0	0	1	0	5799	405	14	4	793	4	FCN1	9	137808192	Splice_Site	SNP	A	TCGA-N6-A4VC-01A-11D-A28R-08	100023192	137808192	3405239	27	1090										
NHLRC2	374354	broad.mit.edu	37	chr10	115663478	115663478	+	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	ttaaagtgatggatttagaaActaaaatggtatctgtggta	10	2	1	2			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr10:115663478A>G	ENST00000369301.3	+	9	1899	c.1687A>G	c.(1687-1689)Act>Gct	p.T563A		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	563										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		GGATTTAGAAACTAAAATGGT	0.308																																						ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1687-1689)Act>Gct		NHL repeat containing 2							83	95	91					10																	115663478		2203	4298	6501	SO:0001583	missense	374354				cell redox homeostasis			g.chr10:115663478A>G	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1687A>G	10.37:g.115663478A>G	ENSP00000358307:p.Thr563Ala		Somatic					p.T563A	NM_198514.3	NP_940916.2	WXS	Illumina GAIIx	Phase_I	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	9	1899	+			563					Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	37	c.1687A>G	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	A	9.935	1.215900	0.22373	.	.	ENSG00000196865	ENST00000369301	D	0.91237	-2.81	5.76	3.45	0.39498	Six-bladed beta-propeller, TolB-like (1);	0.172137	0.53938	N	0.000059	T	0.77239	0.4101	N	0.12746	0.255	0.44061	D	0.996808	B	0.13594	0.008	B	0.12156	0.007	T	0.66614	-0.5879	10	0.07482	T	0.82	-14.893	8.1587	0.31185	0.8415:0.0:0.1585:0.0	.	563	Q8NBF2	NHLC2_HUMAN	A	563	ENSP00000358307:T563A	ENSP00000358307:T563A	T	+	1	0	NHLRC2	115653468	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	3.319000	0.51983	1.121000	0.41925	0.533000	0.62120	ACT		0.308	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		82	74	0	0	0	1	0	82	74					G	115663478	A	G	115663478	3	3	16	1	0	0	0	0	1	0	0	0	10415	43	2	4	1721	4	NHLRC2	10	115663478	Missense_Mutation	SNP	A	TCGA-N6-A4VC-01A-11D-A28R-08		115663478	19871269	28	1091										
MTCH2	23788	broad.mit.edu	37	chr11	47652148	47652148	+	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	tcttcccgatagatggttatTatggaatcacaaagtccact	7	9	2	1	rs202047197	byFrequency	TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr11:47652148T>C	ENST00000302503.3	-	8	655	c.498A>G	c.(496-498)atA>atG	p.I166M	MTCH2_ENST00000542981.1_Missense_Mutation_p.I18M|MTCH2_ENST00000534074.1_5'Flank	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	166					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						AGATGGTTATTATGGAATCAC	0.328													T|||	2	0.000399361	0	0	5008	,	,		18218	0		0	False		,,,				2504	0.002					ENST00000302503.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(496-498)atA>atG		mitochondrial carrier 2							116	109	112					11																	47652148		2201	4298	6499	SO:0001583	missense	23788				transport	integral to membrane|mitochondrial inner membrane		g.chr11:47652148T>C	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.498A>G	11.37:g.47652148T>C	ENSP00000303222:p.Ile166Met		Somatic				MTCH2_ENST00000542981.1_Missense_Mutation_p.I18M	p.I166M	NM_014342.3	NP_055157.1	WXS	Illumina GAIIx	Phase_I	Q9Y6C9	MTCH2_HUMAN			8	655	-			166					B2R7L8	Missense_Mutation	SNP	ENST00000302503.3	37	c.498A>G	CCDS7943.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.068954	0.55539	.	.	ENSG00000109919	ENST00000302503;ENST00000542981;ENST00000530428;ENST00000530558	T;T;T	0.81078	-1.45;-1.45;-1.45	5.48	5.48	0.80851	Mitochondrial carrier domain (2);	0.091329	0.64402	D	0.000001	T	0.80889	0.4710	L	0.56124	1.755	0.46317	D	0.998988	P	0.36837	0.571	P	0.46208	0.507	T	0.81525	-0.0893	10	0.59425	D	0.04	.	9.1913	0.37200	0.1617:0.0:0.0:0.8383	.	166	Q9Y6C9	MTCH2_HUMAN	M	166;18;157;145	ENSP00000303222:I166M;ENSP00000439013:I18M;ENSP00000432043:I157M	ENSP00000303222:I166M	I	-	3	3	MTCH2	47608724	0.682000	0.27624	1.000000	0.80357	0.969000	0.65631	0.269000	0.18589	2.215000	0.71742	0.482000	0.46254	ATA		0.328	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		3	61	0	0	0	1	0	3	61					C	47652148	T	C	47652148	3	2	16	1	0	0	0	0	1	0	0	0	9923	1744	61	4	437	4	MTCH2	11	47652148	Missense_Mutation	SNP	T	TCGA-N6-A4VC-01A-11D-A28R-08		47652148	87354368	29	1092										
PACS1	55690	broad.mit.edu	37	chr11	66002813	66002813	+	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	gggtgatgcagtacgtcaacGgggcagccacgacacaccag	14	12	1	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr11:66002813G>A	ENST00000320580.4	+	18	2179	c.2146G>A	c.(2146-2148)Ggg>Agg	p.G716R	PACS1_ENST00000529757.1_Missense_Mutation_p.G252R	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	716					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						GTACGTCAACGGGGCAGCCAC	0.532																																						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.(2146-2148)Ggg>Agg		phosphofurin acidic cluster sorting protein 1							69	64	66					11																	66002813		2200	4295	6495	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:66002813G>A	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.2146G>A	11.37:g.66002813G>A	ENSP00000316454:p.Gly716Arg		Somatic				PACS1_ENST00000529757.1_Missense_Mutation_p.G252R	p.G716R	NM_018026.3	NP_060496.2	WXS	Illumina GAIIx	Phase_I	Q6VY07	PACS1_HUMAN			18	2179	+			716					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.2146G>A	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255614	0.95336	.	.	ENSG00000175115	ENST00000320580;ENST00000529757	T;T	0.51325	0.71;0.71	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73026	-0.4112	10	0.87932	D	0	-28.1458	17.5073	0.87749	0.0:0.0:1.0:0.0	.	716	Q6VY07	PACS1_HUMAN	R	716;252	ENSP00000316454:G716R;ENSP00000432858:G252R	ENSP00000316454:G716R	G	+	1	0	PACS1	65759389	1.000000	0.71417	0.860000	0.33809	0.941000	0.58515	8.471000	0.90403	2.668000	0.90789	0.655000	0.94253	GGG		0.532	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		38	6	0	0	0	1	0	38	6					A	66002813	G	A	66002813	3	1	16	1	0	0	0	0	1	0	0	0	11381	1116	39	1	2216	1	PACS1	11	66002813	Missense_Mutation	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08	18350665	66002813	69003703	30	1093										
SLCO1B3	28234	broad.mit.edu	37	chr12	21032378	21032378	+	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	ttttatttctaggaatcataAccattcctacggttgcaact	5	9	2	0			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr12:21032378A>C	ENST00000381545.3	+	11	1363	c.1144A>C	c.(1144-1146)Acc>Ccc	p.T382P	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.T382P|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.T382P|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.T382P	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	382					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	AGGAATCATAACCATTCCTAC	0.269																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(1144-1146)Acc>Ccc		solute carrier organic anion transporter family, member 1B3							48	51	50					12																	21032378		2203	4298	6501	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21032378A>C		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1144A>C	12.37:g.21032378A>C	ENSP00000370956:p.Thr382Pro		Somatic				SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.T382P|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.T382P|LST3_ENST00000540229.1_Missense_Mutation_p.T382P|LST3_ENST00000381541.3_Intron	p.T382P	NM_019844.3	NP_062818.1	WXS	Illumina GAIIx	Phase_I	Q9NPD5	SO1B3_HUMAN			11	1363	+	Esophageal squamous(101;0.149)		382					E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.1144A>C	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	11.15	1.554517	0.27739	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.80994	0.31;0.31;0.31;-1.44;0.31	3.49	-0.496	0.12027	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.373225	0.28161	N	0.016373	T	0.81278	0.4789	M	0.76838	2.35	0.09310	N	1	D;P;P	0.55800	0.973;0.907;0.907	P;P;P	0.54815	0.761;0.637;0.637	T	0.70916	-0.4742	10	0.44086	T	0.13	.	2.7538	0.05288	0.4767:0.0:0.2009:0.3224	.	382;382;382	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	P	382;382;382;206;382	ENSP00000261196:T382P;ENSP00000370956:T382P;ENSP00000451758:T382P;ENSP00000443225:T206P;ENSP00000441269:T382P	ENSP00000441269:T382P	T	+	1	0	SLCO1B3;RP11-545J16.1	20923645	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	0.218000	0.17622	-0.306000	0.08818	0.254000	0.18369	ACC		0.269	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		6	46	0	0	0	1	0	6	46					C	21032378	A	C	21032378	3	2	16	1	0	0	0	0	1	0	0	0	14739	43	2	4	1178	4	SLCO1B3	12	21032378	Missense_Mutation	SNP	A	TCGA-N6-A4VC-01A-11D-A28R-08		21032378	112819517	31	1094										
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	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	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina GAIIx	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		5	18	0	0	0	1	0	5	18					T	25398284	C	T	25398284	3	4	16	1	0	0	0	0	1	0	0	0	8447	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-N6-A4VC-01A-11D-A28R-08	4365906	25398284	108453611	32	1095										
SMARCC2	6601	broad.mit.edu	37	chr12	56563467	56563467	+	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	cttcctttggctccttctccTtctcaggatcgactgggcca	8	15	2	0			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr12:56563467T>C	ENST00000267064.4	-	24	2554	c.2468A>G	c.(2467-2469)aAg>aGg	p.K823R	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.K854R|SMARCC2_ENST00000550164.1_Missense_Mutation_p.K854R|SMARCC2_ENST00000394023.3_Missense_Mutation_p.K854R	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	823	Glu-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)			ctccttctccttctcAGGATC	0.592																																						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.(2560-2562)aAg>aGg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							157	112	127					12																	56563467		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56563467T>C	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.2468A>G	12.37:g.56563467T>C	ENSP00000267064:p.Lys823Arg		Somatic				SMARCC2_ENST00000347471.4_Missense_Mutation_p.K854R|SMARCC2_ENST00000550164.1_Missense_Mutation_p.K854R|SMARCC2_ENST00000267064.4_Missense_Mutation_p.K823R|RP11-977G19.5_ENST00000553176.1_RNA	p.K854R	NM_001130420.1	NP_001123892.1	WXS	Illumina GAIIx	Phase_I	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		25	2666	-			823			Glu-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.2561A>G	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.690822	0.48097	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.51325	1.16;0.71;0.73;0.74	4.88	3.65	0.41850	.	0.369597	0.25631	N	0.029356	T	0.43433	0.1247	L	0.40543	1.245	0.30691	N	0.75135	D;D;D;D;D	0.61697	0.982;0.99;0.982;0.982;0.99	B;P;B;B;P	0.49953	0.424;0.627;0.424;0.424;0.627	T	0.46105	-0.9215	10	0.41790	T	0.15	-16.6472	8.2773	0.31879	0.0:0.0:0.2009:0.7991	.	743;854;858;823;854	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	R	854;854;854;823	ENSP00000377591:K854R;ENSP00000449396:K854R;ENSP00000302919:K854R;ENSP00000267064:K823R	ENSP00000267064:K823R	K	-	2	0	SMARCC2	54849734	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.442000	0.44873	1.985000	0.57927	0.454000	0.30748	AAG		0.592	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			22	42	0	0	0	1	0	22	42					C	56563467	T	C	56563467	3	2	16	1	0	0	0	0	1	0	0	0	14791	1609	56	4	1196	4	SMARCC2	12	56563467	Missense_Mutation	SNP	T	TCGA-N6-A4VC-01A-11D-A28R-08	31165183	56563467	77288428	33	1096										
ZFC3H1	196441	broad.mit.edu	37	chr12	72030371	72030371	+	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	gactattgatagattgcttcTtggcacaggatgtgaattgt	11	5	1	3			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr12:72030371T>A	ENST00000378743.3	-	9	2357	c.1999A>T	c.(1999-2001)Aga>Tga	p.R667*	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	667					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						AGATTGCTTCTTGGCACAGGA	0.418																																						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.(1999-2001)Aga>Tga		zinc finger, C3H1-type containing							166	154	158					12																	72030371		1887	4120	6007	SO:0001587	stop_gained	196441				RNA processing	intracellular	metal ion binding	g.chr12:72030371T>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.1999A>T	12.37:g.72030371T>A	ENSP00000368017:p.Arg667*		Somatic					p.R667*	NM_144982.4	NP_659419.3	WXS	Illumina GAIIx	Phase_I	O60293	ZC3H1_HUMAN			9	2357	-			667					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Nonsense_Mutation	SNP	ENST00000378743.3	37	c.1999A>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	41	8.633547	0.98892	.	.	ENSG00000133858	ENST00000378743	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9866	0.71353	0.0:0.0:0.0:1.0	.	.	.	.	X	667	.	ENSP00000368017:R667X	R	-	1	2	ZFC3H1	70316638	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.444000	0.73452	1.943000	0.56356	0.383000	0.25322	AGA		0.418	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		16	82	0	0	0	1	0	16	82					A	72030371	T	A	72030371	4	1	16	1	0	0	0	0	0	1	0	0	17648	1617	56	4	4078	4	ZFC3H1	12	72030371	Nonsense_Mutation	SNP	T	TCGA-N6-A4VC-01A-11D-A28R-08	15466904	72030371	61821524	34	1097										
FANCM	57697	broad.mit.edu	37	chr14	45623210	45623210	+	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	tattgcagcaaatgggaatgAgatcattatatttcttcctt	7	6	2	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr14:45623210A>C	ENST00000267430.5	+	6	1223	c.1138A>C	c.(1138-1140)Aga>Cga	p.R380R	FANCM_ENST00000542564.2_Silent_p.R354R|FANCM_ENST00000556036.1_Silent_p.R380R	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	380					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						AATGGGAATGAGATCATTATA	0.294								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.(1138-1140)Aga>Cga	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							132	134	133					14																	45623210		2203	4299	6502	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.chr14:45623210A>C	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.1138A>C	14.37:g.45623210A>C			Somatic				FANCM_ENST00000542564.2_Silent_p.R354R|FANCM_ENST00000556036.1_Silent_p.R380R	p.R380R	NM_020937.2	NP_065988.1	WXS	Illumina GAIIx	Phase_I	Q8IYD8	FANCM_HUMAN			6	1223	+			380					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.1138A>C	CCDS32070.1																																																																																				0.294	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		49	11	0	0	0	1	0	49	11					C	45623210	A	C	45623210	2	2	16	1	0	0	0	0	0	0	0	1	5679	296	11	4		4	FANCM	14	45623210	Silent	SNP	A	TCGA-N6-A4VC-01A-11D-A28R-08		45623210	61726330	35	1098										
NTN3	4917	broad.mit.edu	37	chr16	2522127	2522127	+	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	caagtctcaggaccatggccGcagctgggccccgctgggct	14	15	1	0			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr16:2522127G>A	ENST00000293973.1	+	1	628	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	142	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GACCATGGCCGCAGCTGGGCC	0.677																																						ENST00000293973.1																			0				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						c.(424-426)cGc>cAc		netrin 3							27	32	30					16																	2522127		2197	4300	6497	SO:0001583	missense	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522127G>A	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"Netrins"	8030	protein-coding gene	gene with protein product	"Netrin-3"	602349	"netrin 2 (chicken)-like", "netrin 2-like (chicken)"	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.425G>A	16.37:g.2522127G>A	ENSP00000293973:p.Arg142His		Somatic					p.R142H	NM_006181.2	NP_006172.1	WXS	Illumina GAIIx	Phase_I	O00634	NET3_HUMAN			1	628	+			142			Laminin N-terminal.			Missense_Mutation	SNP	ENST00000293973.1	37	c.425G>A	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	G	8.584	0.883016	0.17467	.	.	ENSG00000162068	ENST00000293973	T	0.37058	1.22	4.08	3.12	0.35913	Laminin, N-terminal (3);	0.173961	0.37669	N	0.001983	T	0.28665	0.0710	L	0.52573	1.65	0.37869	D	0.929991	B	0.17465	0.022	B	0.15484	0.013	T	0.17868	-1.0355	10	0.52906	T	0.07	.	5.575	0.17218	0.3173:0.0:0.6827:0.0	.	142	O00634	NET3_HUMAN	H	142	ENSP00000293973:R142H	ENSP00000293973:R142H	R	+	2	0	NTN3	2462128	0.996000	0.38824	1.000000	0.80357	0.755000	0.42902	3.460000	0.53028	0.937000	0.37394	0.462000	0.41574	CGC		0.677	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		3	40	0	0	0	1	0	3	40					A	2522127	G	A	2522127	3	1	16	1	0	0	0	0	1	0	0	0	10710	1087	38	1	427	1	NTN3	16	2522127	Missense_Mutation	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08		2522127	87832626	36	1099										
ASPHD1	253982	broad.mit.edu	37	chr16	29917116	29917116	+	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	ccatgtgccctaggctccccCgaagatgggcctcgagtggt	13	14	0	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr16:29917116C>T	ENST00000308748.5	+	3	1323	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P	ASPHD1_ENST00000483405.1_Silent_p.P76P	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	357					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TAGGCTCCCCCGAAGATGGGC	0.572																																						ENST00000308748.5																			0				endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						c.(1069-1071)ccC>ccT		aspartate beta-hydroxylase domain containing 1							87	77	80					16																	29917116		2197	4300	6497	SO:0001819	synonymous_variant	253982				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr16:29917116C>T	AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.1071C>T	16.37:g.29917116C>T			Somatic				ASPHD1_ENST00000483405.1_Silent_p.P76P	p.P357P	NM_181718.3	NP_859069.2	WXS	Illumina GAIIx	Phase_I	Q5U4P2	ASPH1_HUMAN			3	1323	+			357					A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Silent	SNP	ENST00000308748.5	37	c.1071C>T	CCDS10660.1																																																																																				0.572	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255163.2	NM_181718		19	54	0	0	0	1	0	19	54					T	29917116	C	T	29917116	2	4	16	1	0	0	0	0	0	0	0	1	1054	639	23	1		1	ASPHD1	16	29917116	Silent	SNP	C	TCGA-N6-A4VC-01A-11D-A28R-08	27394989	29917116	60437637	37	1100										
SETD1A	9739	broad.mit.edu	37	chr16	30977316	30977316	+	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	attgattgccgcctcagctgGcccccccggtggggcctttg	13	15	1	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr16:30977316G>A	ENST00000262519.8	+	8	2800	c.2114G>A	c.(2113-2115)gGc>gAc	p.G705D		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	705					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCCTCAGCTGGCCCCCCCGGT	0.642																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(2113-2115)gGc>gAc		SET domain containing 1A							47	52	50					16																	30977316		2196	4299	6495	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.chr16:30977316G>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.2114G>A	16.37:g.30977316G>A	ENSP00000262519:p.Gly705Asp		Somatic					p.G705D	NM_014712.1	NP_055527.1	WXS	Illumina GAIIx	Phase_I	O15047	SET1A_HUMAN			8	2800	+			705					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.2114G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	6.363	0.435103	0.12045	.	.	ENSG00000099381	ENST00000262519	D	0.94457	-3.43	4.67	2.51	0.30379	.	0.437645	0.22169	N	0.063666	D	0.92645	0.7663	L	0.29908	0.895	0.31168	N	0.703602	D	0.56746	0.977	P	0.55785	0.784	D	0.90643	0.4576	10	0.51188	T	0.08	.	10.3002	0.43648	0.0:0.4266:0.5734:0.0	.	705	O15047	SET1A_HUMAN	D	705	ENSP00000262519:G705D	ENSP00000262519:G705D	G	+	2	0	SETD1A	30884817	0.179000	0.23135	0.613000	0.29037	0.509000	0.34042	1.434000	0.34958	1.129000	0.42072	0.655000	0.94253	GGC		0.642	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		40	134	0	0	0	1	0	40	134					A	30977316	G	A	30977316	3	1	16	1	0	0	0	0	1	0	0	0	14145	1203	42	3	2140	3	SETD1A	16	30977316	Missense_Mutation	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08	1060200	30977316	59377437	38	1101										
IRX6	79190	broad.mit.edu	37	chr16	55362678	55362678	+	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	ggaagacctggaggaagaggAggaggaggaggaggaagctg	22	3	0	2			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr16:55362678A>G	ENST00000290552.7	+	5	2120	c.788A>G	c.(787-789)gAg>gGg	p.E263G	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	263					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						gaggaagaggaggaggaggag	0.627																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(787-789)gAg>gGg		iroquois homeobox 6							33	39	37					16																	55362678		2195	4293	6488	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362678A>G	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.788A>G	16.37:g.55362678A>G	ENSP00000290552:p.Glu263Gly		Somatic				RP11-26L20.3_ENST00000558730.2_RNA	p.E263G	NM_024335.2	NP_077311.2	WXS	Illumina GAIIx	Phase_I	P78412	IRX6_HUMAN			5	2120	+			263					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.788A>G	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049804	0.75846	.	.	ENSG00000159387	ENST00000290552	D	0.90732	-2.72	4.62	4.62	0.57501	.	0.062950	0.64402	D	0.000007	D	0.85431	0.5695	L	0.27053	0.805	0.39232	D	0.963703	P	0.48162	0.906	B	0.44224	0.444	D	0.87532	0.2453	10	0.66056	D	0.02	-10.5108	11.5527	0.50729	1.0:0.0:0.0:0.0	.	263	P78412	IRX6_HUMAN	G	263	ENSP00000290552:E263G	ENSP00000290552:E263G	E	+	2	0	IRX6	53920179	0.840000	0.29493	0.992000	0.48379	0.981000	0.71138	0.005000	0.13129	1.729000	0.51567	0.379000	0.24179	GAG		0.627	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		29	35	0	0	0	1	0	29	35					G	55362678	A	G	55362678	3	3	16	1	0	0	0	0	1	0	0	0	7857	304	11	4	806	4	IRX6	16	55362678	Missense_Mutation	SNP	A	TCGA-N6-A4VC-01A-11D-A28R-08	24385362	55362678	34992075	39	1102										
LDHD	197257	broad.mit.edu	37	chr16	75149480	75149480	+	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	atcgcgcccgtgctgctctcGgaccaccgcggcagtggaca	13	16	1	0			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr16:75149480G>C	ENST00000450168.2	-	2	201	c.151C>G	c.(151-153)Cga>Gga	p.R51G	LDHD_ENST00000300051.4_Missense_Mutation_p.R51G	NM_194436.2	NP_919417.1			lactate dehydrogenase D											endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						TGCTGCTCTCGGACCACCGCG	0.652																																						ENST00000300051.4																			0				endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						c.(151-153)Cga>Gga		lactate dehydrogenase D							26	31	29					16																	75149480		2196	4299	6495	SO:0001583	missense	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75149480G>C	AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.151C>G	16.37:g.75149480G>C	ENSP00000417011:p.Arg51Gly		Somatic				LDHD_ENST00000450168.2_Missense_Mutation_p.R51G	p.R51G	NM_153486.3	NP_705690.2	WXS	Illumina GAIIx	Phase_I	Q86WU2	LDHD_HUMAN			2	197	-			51						Missense_Mutation	SNP	ENST00000450168.2	37	c.151C>G	CCDS45529.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170794	0.57584	.	.	ENSG00000166816	ENST00000450168;ENST00000300051	T;T	0.47528	0.84;0.84	5.06	3.01	0.34805	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (1);	0.199396	0.41938	D	0.000798	T	0.62183	0.2407	M	0.74546	2.27	0.49389	D	0.999784	D;D	0.61080	0.989;0.968	P;P	0.57283	0.817;0.762	T	0.66650	-0.5870	10	0.87932	D	0	-2.9447	13.452	0.61176	0.0:0.0:0.7069:0.2931	.	51;51	Q86WU2-2;Q86WU2	.;LDHD_HUMAN	G	51	ENSP00000417011:R51G;ENSP00000300051:R51G	ENSP00000300051:R51G	R	-	1	2	LDHD	73706981	0.995000	0.38212	0.053000	0.19242	0.458000	0.32498	1.254000	0.32897	0.484000	0.27630	0.561000	0.74099	CGA		0.652	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434651.1	NM_153486		7	34	0	0	0	1	0	7	34					C	75149480	G	C	75149480	3	2	16	1	0	0	0	0	1	0	0	0	8712	1124	39	5	1412	5	LDHD	16	75149480	Missense_Mutation	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08	19786802	75149480	15205273	40	1103										
TP53	7157	broad.mit.edu	37	chr17	7577568	7577568	+	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	cgcccatgcaggaactgttaCacatgtagttgtagtggatg	12	8	0	0			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:7577568C>T	ENST00000269305.4	-	7	902	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000420246.2_Missense_Mutation_p.C238Y	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)	GGAACTGTTACACATGTAGTT	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"		158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(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	CM034930	TP53	M		c.(712-714)tGt>tAt	Other conserved DNA damage response genes	tumor protein p53							132	103	113					17																	7577568		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.chr17:7577568C>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.713G>A	17.37:g.7577568C>T	ENSP00000269305:p.Cys238Tyr	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.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000269305.4_Missense_Mutation_p.C238Y	p.C238Y	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	845	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.713G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327056	0.81690	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	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	0.99972	0.9991	M	0.92970	3.365	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	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238Y;ENSP00000352610:C238Y;ENSP00000269305:C238Y;ENSP00000398846:C238Y;ENSP00000391127:C238Y;ENSP00000391478:C238Y;ENSP00000425104:C106Y;ENSP00000423862:C145Y	ENSP00000269305:C238Y	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		74	11	0	0	0	1	0	74	11					T	7577568	C	T	7577568	3	4	16	1	0	0	0	0	1	0	0	0	16396	478	17	3	577	3	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-N6-A4VC-01A-11D-A28R-08		7577568	73617642	41	1104										
DNAH2	146754	broad.mit.edu	37	chr17	7689631	7689631	+	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	ccctgtcctctctgtgccgcGccggagaccctaacttcaac	8	18	2	1	rs139080127		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:7689631G>A	ENST00000572933.1	+	40	7779	c.6319G>A	c.(6319-6321)Gcc>Acc	p.A2107T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A2107T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2107	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)			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)				TCTGTGCCGCGCCGGAGACCC	0.597																																						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.(6319-6321)Gcc>Acc		dynein, axonemal, heavy chain 2		G	THR/ALA	0,4406		0,0,2203	44	43	44		6319	5.2	0.6	17	dbSNP_134	44	2,8598	2.2+/-6.3	0,2,4298	no	missense	DNAH2	NM_020877.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	2107/4428	7689631	2,13004	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.chr17:7689631G>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.6319G>A	17.37:g.7689631G>A	ENSP00000458355:p.Ala2107Thr		Somatic				DNAH2_ENST00000389173.2_Missense_Mutation_p.A2107T	p.A2107T			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			40	7779	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2107			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6319G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	8.692	0.907676	0.17833	0.0	2.33E-4	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.23754	1.89	5.21	5.21	0.72293	ATPase, dynein-related, AAA domain (1);	0.280775	0.34986	N	0.003533	T	0.12860	0.0312	N	0.08118	0	0.28660	N	0.906162	B	0.25772	0.134	B	0.22753	0.041	T	0.12630	-1.0540	10	0.23302	T	0.38	.	11.7179	0.51663	0.084:0.0:0.916:0.0	.	2107	Q9P225	DYH2_HUMAN	T	2107	ENSP00000373825:A2107T	ENSP00000353818:A2107T	A	+	1	0	DNAH2	7630356	0.107000	0.21998	0.630000	0.29268	0.618000	0.37518	2.305000	0.43664	2.710000	0.92621	0.650000	0.86243	GCC		0.597	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		15	48	0	0	0	1	0	15	48					A	7689631	G	A	7689631	3	1	16	1	0	0	0	0	1	0	0	0	4604	1087	38	1	6473	1	DNAH2	17	7689631	Missense_Mutation	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08	112063	7689631	73505579	42	1105										
WNT9B	7484	broad.mit.edu	37	chr17	44953961	44953961	+	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	tgcagcagcctgtgctgcggGcggggctatgacacccagag	16	12	0	2			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:44953961G>A	ENST00000290015.2	+	4	1004	c.951G>A	c.(949-951)ggG>ggA	p.G317G	WNT9B_ENST00000393461.2_Intron	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	317					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TGTGCTGCGGGCGGGGCTATG	0.662																																						ENST00000290015.2																			0				large_intestine(2)|lung(8)	10						c.(949-951)ggG>ggA		wingless-type MMTV integration site family, member 9B							30	33	32					17																	44953961		2203	4300	6503	SO:0001819	synonymous_variant	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44953961G>A	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"Wingless-type MMTV integration sites"	12779	protein-coding gene	gene with protein product		602864	"wingless-type MMTV integration site family, member 15"	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.951G>A	17.37:g.44953961G>A			Somatic				WNT9B_ENST00000393461.2_Intron	p.G317G	NM_003396.1	NP_003387.1	WXS	Illumina GAIIx	Phase_I	O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		4	1004	+			317					Q6UXT4|Q96Q09	Silent	SNP	ENST00000290015.2	37	c.951G>A	CCDS11506.1																																																																																				0.662	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		81	11	0	0	0	1	0	81	11					A	44953961	G	A	44953961	2	1	16	1	0	0	0	0	0	0	0	1	17414	1190	42	3		3	WNT9B	17	44953961	Silent	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08	37264330	44953961	36241249	43	1106										
SPOP	8405	broad.mit.edu	37	chr17	47696408	47696408	+	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	ctcatccaaaagaaaatctcTacggatgaatttcttgaatc	5	9	3	3			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:47696408T>C	ENST00000393328.2	-	6	780	c.415A>G	c.(415-417)Aga>Gga	p.R139G	SPOP_ENST00000347630.2_Missense_Mutation_p.R139G|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.R139G|SPOP_ENST00000393331.3_Missense_Mutation_p.R139G|SPOP_ENST00000504102.1_Missense_Mutation_p.R139G	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	139	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						AGAAAATCTCTACGGATGAAT	0.463										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(415-417)Aga>Gga		speckle-type POZ protein							113	115	114					17																	47696408		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696408T>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.415A>G	17.37:g.47696408T>C	ENSP00000377001:p.Arg139Gly	Prostate(2;0.17)	Somatic				SPOP_ENST00000503676.1_Missense_Mutation_p.R139G|SPOP_ENST00000504102.1_Missense_Mutation_p.R139G|SPOP_ENST00000393328.2_Missense_Mutation_p.R139G|SPOP_ENST00000347630.2_Missense_Mutation_p.R139G	p.R139G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	O43791	SPOP_HUMAN			7	885	-			139			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.415A>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.845224	0.91197	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970	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	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	M	0.82823	2.61	0.80722	D	1	D	0.63880	0.993	D	0.73708	0.981	T	0.72178	-0.4369	10	0.66056	D	0.02	-10.9053	15.258	0.73599	0.0:0.0:0.0:1.0	.	139	O43791	SPOP_HUMAN	G	139;139;139;139;23;139;92;139;139;139	ENSP00000377001:R139G;ENSP00000377004:R139G;ENSP00000240327:R139G;ENSP00000425905:R139G;ENSP00000420908:R139G;ENSP00000426986:R139G;ENSP00000420960:R139G;ENSP00000426262:R139G	ENSP00000240327:R139G	R	-	1	2	SPOP	45051407	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.015000	0.64035	2.261000	0.74972	0.460000	0.39030	AGA		0.463	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		132	25	0	0	0	1	0	132	25					C	47696408	T	C	47696408	3	2	16	1	0	0	0	0	1	0	0	0	15099	1530	53	4	733	4	SPOP	17	47696408	Missense_Mutation	SNP	T	TCGA-N6-A4VC-01A-11D-A28R-08	2742447	47696408	33498802	44	1107										
SPOP	8405	broad.mit.edu	37	chr17	47699375	47699375	+	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	gacttcacccatttcctcccGgcaaaagctaaagttattga	6	12	1	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:47699375G>A	ENST00000393328.2	-	4	498	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	SPOP_ENST00000347630.2_Missense_Mutation_p.R45W|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000503676.1_Missense_Mutation_p.R45W|SPOP_ENST00000393331.3_Missense_Mutation_p.R45W|SPOP_ENST00000504102.1_Missense_Mutation_p.R45W	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	45	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)	p.R45W(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						ATTTCCTCCCGGCAAAAGCTA	0.358										Prostate(2;0.17)																												ENST00000393331.3																			1	Substitution - Missense(1)	p.R45W(1)	endometrium(1)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(133-135)Cgg>Tgg		speckle-type POZ protein							64	61	62					17																	47699375		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47699375G>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.133C>T	17.37:g.47699375G>A	ENSP00000377001:p.Arg45Trp	Prostate(2;0.17)	Somatic				SPOP_ENST00000503676.1_Missense_Mutation_p.R45W|SPOP_ENST00000504102.1_Missense_Mutation_p.R45W|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000393328.2_Missense_Mutation_p.R45W|SPOP_ENST00000347630.2_Missense_Mutation_p.R45W	p.R45W	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	O43791	SPOP_HUMAN			5	603	-			45			MATH.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.133C>T	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690271	0.68271	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508;ENST00000510476	T;T;T;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;0.91;0.91;0.91	5.34	5.34	0.76211	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	M	0.62723	1.935	0.80722	D	1	B	0.27997	0.197	B	0.23574	0.047	T	0.43376	-0.9395	10	0.62326	D	0.03	-0.8606	18.8261	0.92119	0.0:0.0:1.0:0.0	.	45	O43791	SPOP_HUMAN	W	45	ENSP00000377001:R45W;ENSP00000377004:R45W;ENSP00000240327:R45W;ENSP00000425905:R45W;ENSP00000420908:R45W;ENSP00000426986:R45W;ENSP00000420960:R45W;ENSP00000426262:R45W;ENSP00000424119:R45W;ENSP00000426537:R45W;ENSP00000425410:R45W	ENSP00000240327:R45W	R	-	1	2	SPOP	45054374	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.497000	0.73674	2.781000	0.95711	0.650000	0.86243	CGG		0.358	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		30	5	0	0	0	1	0	30	5					A	47699375	G	A	47699375	3	1	16	1	0	0	0	0	1	0	0	0	15099	1115	39	1	1023	1	SPOP	17	47699375	Missense_Mutation	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08	2967	47699375	33495835	45	1108										
SALL3	27164	broad.mit.edu	37	chr18	76752234	76752234	+	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	aagctcccgcccgtgctgatCgtgcacgaggacgcgcccgc	13	17	0	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr18:76752234C>G	ENST00000537592.2	+	2	243	c.243C>G	c.(241-243)atC>atG	p.I81M	SALL3_ENST00000575389.2_Missense_Mutation_p.I81M|SALL3_ENST00000536229.3_5'UTR	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	81					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCGTGCTGATCGTGCACGAGG	0.711																																						ENST00000575389.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(241-243)atC>atG		spalt-like transcription factor 3							26	28	27					18																	76752234		2196	4300	6496	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76752234C>G	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.243C>G	18.37:g.76752234C>G	ENSP00000441823:p.Ile81Met		Somatic				SALL3_ENST00000537592.2_Missense_Mutation_p.I81M|SALL3_ENST00000536229.3_5'UTR	p.I81M			WXS	Illumina GAIIx	Phase_I	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	243	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	81					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.243C>G	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	C	8.444	0.851494	0.17034	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.50277	0.75	4.63	2.77	0.32553	.	0.000000	0.56097	D	0.000039	T	0.65698	0.2716	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66396	-0.5934	10	0.87932	D	0	-44.8474	5.3133	0.15843	0.1653:0.5977:0.0:0.237	.	81	Q9BXA9	SALL3_HUMAN	M	81	ENSP00000441823:I81M	ENSP00000299466:I81M	I	+	3	3	SALL3	74853222	0.674000	0.27549	0.999000	0.59377	0.185000	0.23345	-0.181000	0.09740	1.069000	0.40788	0.561000	0.74099	ATC		0.711	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		5	25	0	0	0	1	0	5	25					G	76752234	C	G	76752234	3	3	16	1	0	0	0	0	1	0	0	0	13827	874	31	2	249	2	SALL3	18	76752234	Missense_Mutation	SNP	C	TCGA-N6-A4VC-01A-11D-A28R-08		76752234	1325014	46	1109										
DOCK6	57572	broad.mit.edu	37	chr19	11327692	11327692	+	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	cgctgcaggagcgccggctcGgtgtttttcagcacccacag	13	14	1	0			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr19:11327692G>A	ENST00000294618.7	-	30	3803	c.3792C>T	c.(3790-3792)acC>acT	p.T1264T	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Silent_p.T603T	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1264					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCGCCGGCTCGGTGTTTTTCA	0.612																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(3790-3792)acC>acT		dedicator of cytokinesis 6							36	39	38					19																	11327692		2107	4218	6325	SO:0001819	synonymous_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11327692G>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3792C>T	19.37:g.11327692G>A			Somatic				DOCK6_ENST00000319867.7_Silent_p.T603T	p.T1264T	NM_020812.3	NP_065863.2	WXS	Illumina GAIIx	Phase_I	Q96HP0	DOCK6_HUMAN			30	3803	-			1264					A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	c.3792C>T	CCDS45975.1																																																																																				0.612	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		22	60	0	0	0	1	0	22	60					A	11327692	G	A	11327692	2	1	16	1	0	0	0	0	0	0	0	1	4693	1103	39	1		1	DOCK6	19	11327692	Silent	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08		11327692	47801291	47	1110										
ZNF99	7652	broad.mit.edu	37	chr19	22939890	22939890	+	IGR	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	tatgtttcttaagggttgagGaattgttaaaagcttttcca	9	4	1	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr19:22939890G>A	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.S814F|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGGTTGAGGAATTGTTAAA	0.383																																						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.(2440-2442)tCc>tTc		zinc finger protein 99							94	108	104					19																	22939890		2097	4247	6344	SO:0001628	intergenic_variant	7652							g.chr19:22939890G>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939890G>A			Somatic					p.S814F			WXS	Illumina GAIIx	Phase_I					6	2440	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2441C>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.685591	0.00745	.	.	ENSG00000213973	ENST00000397104	T	0.36340	1.26	1.14	-2.28	0.06826	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28200	0.0696	M	0.73372	2.23	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38156	-0.9674	9	0.12430	T	0.62	.	3.9319	0.09290	0.0:0.1756:0.422:0.4024	.	814	A8MXY4	ZNF99_HUMAN	F	814	ENSP00000380293:S814F	ENSP00000380293:S814F	S	-	2	0	ZNF99	22731730	0.000000	0.05858	0.001000	0.08648	0.201000	0.24016	-1.063000	0.03465	-0.608000	0.05731	0.173000	0.16961	TCC		0.383	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		35	37	0	0	0	1	0	35	37					A	22939890	G	A	22939890	1	1	16	0	1	0	0	0	0	0	0	0	18219	1174	41	3		3	ZNF99	19	22939890	IGR	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08	11612198	22939890	36189093	48	1111										
VN1R2	317701	broad.mit.edu	37	chr19	53762414	53762414	+	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	gaagtcacaaagtcagtataTgcagcattgacatccttcca	7	10	2	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr19:53762414T>A	ENST00000341702.3	+	1	870	c.786T>A	c.(784-786)taT>taA	p.Y262*		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	262					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)		AGTCAGTATATGCAGCATTGA	0.448																																						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.(784-786)taT>taA		vomeronasal 1 receptor 2							151	139	143					19																	53762414		2203	4300	6503	SO:0001587	stop_gained	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762414T>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.786T>A	19.37:g.53762414T>A	ENSP00000351244:p.Tyr262*		Somatic					p.Y262*	NM_173856.2	NP_776255.2	WXS	Illumina GAIIx	Phase_I	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	870	+			262					A1L411|Q8TDU4	Nonsense_Mutation	SNP	ENST00000341702.3	37	c.786T>A	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.111238	0.56398	.	.	ENSG00000196131	ENST00000341702	.	.	.	2.94	1.89	0.25635	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.3225	0.07056	0.0:0.1296:0.2441:0.6263	.	.	.	.	X	262	.	ENSP00000351244:Y262X	Y	+	3	2	VN1R2	58454226	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.271000	0.18626	0.529000	0.28599	0.486000	0.48141	TAT		0.448	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		79	21	0	0	0	1	0	79	21					A	53762414	T	A	53762414	4	1	16	1	0	0	0	0	0	1	0	0	17194	1471	51	4	788	4	VN1R2	19	53762414	Nonsense_Mutation	SNP	T	TCGA-N6-A4VC-01A-11D-A28R-08	30822524	53762414	5366569	49	1112										
FOXA2	3170	broad.mit.edu	37	chr20	22563665	22563665	+	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	tgccagcgcccacgtacgacGacatgttcatggagcccgcg	12	15	1	0			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr20:22563665G>T	ENST00000377115.4	-	3	378	c.197C>A	c.(196-198)tCg>tAg	p.S66*	FOXA2_ENST00000419308.2_Nonsense_Mutation_p.S72*	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	66	Transactivation domain 1. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CACGTACGACGACATGTTCAT	0.731																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(196-198)tCg>tAg		forkhead box A2							43	45	44					20																	22563665		2203	4298	6501	SO:0001587	stop_gained	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.chr20:22563665G>T	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.197C>A	20.37:g.22563665G>T	ENSP00000366319:p.Ser66*		Somatic				FOXA2_ENST00000319993.4_Nonsense_Mutation_p.S72*|FOXA2_ENST00000377115.4_Nonsense_Mutation_p.S66*	p.S66*	NM_021784.4	NP_068556.2	WXS	Illumina GAIIx	Phase_I	Q9Y261	FOXA2_HUMAN			2	399	-	Lung NSC(19;0.188)		66			Transactivation domain 1 (By similarity).		Q8WUW4|Q96DF7	Nonsense_Mutation	SNP	ENST00000377115.4	37	c.197C>A	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118327	0.94385	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993	.	.	.	4.42	3.39	0.38822	.	0.226619	0.19577	U	0.110958	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4755	0.38869	0.0:0.2167:0.7833:0.0	.	.	.	.	X	66;66;72	.	ENSP00000315955:S72X	S	-	2	0	FOXA2	22511665	1.000000	0.71417	0.944000	0.38274	0.872000	0.50106	7.379000	0.79691	1.995000	0.58328	0.467000	0.42956	TCG		0.731	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			62	41	1	0	1.1362e-29	1	1.27392e-29	62	41					T	22563665	G	T	22563665	4	4	16	1	0	0	0	0	0	1	0	0	5998	1059	37	2	1180	2	FOXA2	20	22563665	Nonsense_Mutation	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08		22563665	40461855	50	1113										
DSCAM	1826	broad.mit.edu	37	chr21	41648105	41648105	+	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	gaggtagtagccactgtcttCctccacgacatgcttgatca	9	12	2	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr21:41648105C>A	ENST00000400454.1	-	11	2752	c.2275G>T	c.(2275-2277)Gaa>Taa	p.E759*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	759	Ig-like C2-type 8.				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)				CCACTGTCTTCCTCCACGACA	0.517																																					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.(2275-2277)Gaa>Taa		Down syndrome cell adhesion molecule							82	87	85					21																	41648105		2055	4243	6298	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.chr21:41648105C>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.2275G>T	21.37:g.41648105C>A	ENSP00000383303:p.Glu759*		Somatic					p.E759*	NM_001389.3	NP_001380.2	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			11	2752	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	759			Ig-like C2-type 8.		O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	c.2275G>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	40	8.411179	0.98799	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	5.78	5.78	0.91487	.	0.055949	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	20.0204	0.97499	0.0:1.0:0.0:0.0	.	.	.	.	X	759;511	.	ENSP00000383303:E759X	E	-	1	0	DSCAM	40569975	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	7.726000	0.84824	2.729000	0.93468	0.650000	0.86243	GAA		0.517	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		23	23	1	0	6.44725e-10	1	6.81567e-10	23	23					A	41648105	C	A	41648105	4	1	16	1	0	0	0	0	0	1	0	0	4770	864	30	2	3855	2	DSCAM	21	41648105	Nonsense_Mutation	SNP	C	TCGA-N6-A4VC-01A-11D-A28R-08		41648105	6481790	51	1114										
KLHDC7B	113730	broad.mit.edu	37	chr22	50988123	50988123	+	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	gcgtgggcgccgccgtgatgCgctacaacacagtgaccggc	15	14	0	2			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr22:50988123C>T	ENST00000395676.2	+	1	1662	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	510										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)		CGCCGTGATGCGCTACAACAC	0.692																																						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.(1528-1530)Cgc>Tgc		kelch domain containing 7B							29	33	32					22																	50988123		2199	4287	6486	SO:0001583	missense	113730							g.chr22:50988123C>T	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.1528C>T	22.37:g.50988123C>T	ENSP00000379034:p.Arg510Cys		Somatic					p.R510C	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	1662	+		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)	510						Missense_Mutation	SNP	ENST00000395676.2	37	c.1528C>T	CCDS14097.2	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491224	0.64074	.	.	ENSG00000130487	ENST00000395676	T	0.25414	1.8	5.45	5.45	0.79879	Kelch-type beta propeller (1);	0.000000	0.42420	U	0.000708	T	0.43478	0.1249	L	0.56340	1.77	0.43555	D	0.995867	D	0.89917	1.0	D	0.80764	0.994	T	0.28490	-1.0042	10	0.62326	D	0.03	.	10.2405	0.43310	0.0:0.9101:0.0:0.0899	.	510	Q96G42	KLD7B_HUMAN	C	510	ENSP00000379034:R510C	ENSP00000379034:R510C	R	+	1	0	KLHDC7B	49334989	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	2.579000	0.46059	2.576000	0.86940	0.491000	0.48974	CGC		0.692	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		10	67	0	0	0	1	0	10	67					T	50988123	C	T	50988123	3	4	16	1	0	0	0	0	1	0	0	0	8370	768	27	1	1530	1	KLHDC7B	22	50988123	Missense_Mutation	SNP	C	TCGA-N6-A4VC-01A-11D-A28R-08		50988123	316443	52	1115										
MID1	4281	broad.mit.edu	37	chrX	10417566	10417566	+	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	gttcaaagcatcataaaaggCgatagagccgttatcatagt	9	7	3	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:10417566C>T	ENST00000317552.4	-	10	2246	c.1846G>A	c.(1846-1848)Gcc>Acc	p.A616T	MID1_ENST00000380785.1_Missense_Mutation_p.A616T|MID1_ENST00000380787.1_Missense_Mutation_p.A616T|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380779.1_Missense_Mutation_p.A616T|MID1_ENST00000380780.1_Missense_Mutation_p.A616T|MID1_ENST00000453318.2_Missense_Mutation_p.A616T|MID1_ENST00000479925.1_5'UTR	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	616	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						TCATAAAAGGCGATAGAGCCG	0.547																																						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.(1846-1848)Gcc>Acc		midline 1 (Opitz/BBB syndrome)							145	107	120					X																	10417566		2203	4300	6503	SO:0001583	missense	0				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:10417566C>T	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.1846G>A	X.37:g.10417566C>T	ENSP00000312678:p.Ala616Thr		Somatic				MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380787.1_Missense_Mutation_p.A616T|MID1_ENST00000453318.2_Missense_Mutation_p.A616T|MID1_ENST00000380779.1_Missense_Mutation_p.A616T|MID1_ENST00000380780.1_Missense_Mutation_p.A616T|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380785.1_Missense_Mutation_p.A616T	p.A616T	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	WXS	Illumina GAIIx	Phase_I	O15344	TRI18_HUMAN			10	2246	-			616			B30.2/SPRY.		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.1846G>A	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	5.706	0.314801	0.10789	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000454373	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17	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);	0.117691	0.64402	D	0.000019	T	0.41949	0.1181	N	0.17901	0.54	0.54753	D	0.99998	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.005;0.004;0.005	T	0.27262	-1.0079	10	0.21540	T	0.41	.	13.5002	0.61449	0.1559:0.8441:0.0:0.0	.	616;616;566	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	T	616;616;616;616;616;616;566	ENSP00000414521:A616T;ENSP00000312678:A616T;ENSP00000370162:A616T;ENSP00000370156:A616T;ENSP00000370164:A616T;ENSP00000370157:A616T	ENSP00000312678:A616T	A	-	1	0	MID1	10377566	1.000000	0.71417	0.296000	0.24974	0.226000	0.24999	4.468000	0.60162	2.322000	0.78497	0.422000	0.28245	GCC		0.547	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			94	88	0	0	0	1	0	94	88					T	10417566	C	T	10417566	3	4	16	1	0	0	0	0	1	0	0	0	9585	768	27	1	161	1	MID1	23	10417566	Missense_Mutation	SNP	C	TCGA-N6-A4VC-01A-11D-A28R-08		10417566	144852994	53	1116										
HCCS	3052	broad.mit.edu	37	chrX	11139870	11139870	+	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	ctggacgtccgtcctgccttAgattcactttcggcagtatg	10	12	1	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:11139870A>G	ENST00000321143.4	+	7	949	c.747A>G	c.(745-747)ttA>ttG	p.L249L	HCCS_ENST00000380762.4_Silent_p.L249L|HCCS_ENST00000380763.3_Silent_p.L249L|ARHGAP6_ENST00000534860.1_Intron	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	249					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						GTCCTGCCTTAGATTCACTTT	0.433																																					Ovarian(86;1338 1347 1462 10340 37882)	ENST00000321143.4																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(745-747)ttA>ttG		holocytochrome c synthase							131	103	112					X																	11139870		2203	4300	6503	SO:0001819	synonymous_variant	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11139870A>G		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"cytochrome c heme-lyase"	300056	"holocytochrome c synthase (cytochrome c heme-lyase)", "microphthalamia with linear skin defects"	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.747A>G	X.37:g.11139870A>G			Somatic				ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380763.3_Silent_p.L249L|HCCS_ENST00000380762.4_Silent_p.L249L	p.L249L	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	WXS	Illumina GAIIx	Phase_I	P53701	CCHL_HUMAN			7	949	+			249					B3KUS1|Q502X8	Silent	SNP	ENST00000321143.4	37	c.747A>G	CCDS14139.1																																																																																				0.433	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			5	62	0	0	0	1	0	5	62					G	11139870	A	G	11139870	2	3	16	1	0	0	0	0	0	0	0	1	6999	417	15	4		4	HCCS	23	11139870	Silent	SNP	A	TCGA-N6-A4VC-01A-11D-A28R-08	722304	11139870	144130690	54	1117										
FAM47C	442444	broad.mit.edu	37	chrX	37028481	37028481	+	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	aagactcgggtgtccagtctCcccccggagccccccgagac	11	18	1	2			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:37028481C>A	ENST00000358047.3	+	1	2050	c.1998C>A	c.(1996-1998)ctC>ctA	p.L666L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	666										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						TGTCCAGTCTCCCCCCGGAGC	0.637																																						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.(1996-1998)ctC>ctA		family with sequence similarity 47, member C							22	25	24					X																	37028481		2152	4250	6402	SO:0001819	synonymous_variant	442444							g.chrX:37028481C>A	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.1998C>A	X.37:g.37028481C>A			Somatic					p.L666L	NM_001013736.2	NP_001013758.1	WXS	Illumina GAIIx	Phase_I	Q5HY64	FA47C_HUMAN			1	2050	+			666					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.1998C>A	CCDS35227.1																																																																																				0.637	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		12	104	1	0	8.60227e-14	1	9.3613e-14	12	104					A	37028481	C	A	37028481	2	1	16	1	0	0	0	0	0	0	0	1	5579	842	30	2		2	FAM47C	23	37028481	Silent	SNP	C	TCGA-N6-A4VC-01A-11D-A28R-08	25888611	37028481	118242079	55	1118										
SLC38A5	92745	broad.mit.edu	37	chrX	48317963	48317963	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	gaaaggctccacctcagaggGtacaatgcggaggtagaaga	14	8	1	3			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:48317963G>T	ENST00000376876.3	-	15	2119	c.1276C>A	c.(1276-1278)Ccc>Acc	p.P426T	SLC38A5_ENST00000317669.5_Missense_Mutation_p.P426T|SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000376875.1_Missense_Mutation_p.P375T			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	426					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						ACCTCAGAGGGTACAATGCGG	0.567																																						ENST00000376876.3																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						c.(1276-1278)Ccc>Acc		solute carrier family 38, member 5							63	52	56					X																	48317963		2202	4300	6502	SO:0001583	missense	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48317963G>T	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1276C>A	X.37:g.48317963G>T	ENSP00000366073:p.Pro426Thr		Somatic				SLC38A5_ENST00000317669.5_Missense_Mutation_p.P426T|SLC38A5_ENST00000376875.1_Missense_Mutation_p.P375T|SLC38A5_ENST00000480105.1_5'UTR	p.P426T			WXS	Illumina GAIIx	Phase_I	Q8WUX1	S38A5_HUMAN			15	2119	-			426					B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	ENST00000376876.3	37	c.1276C>A	CCDS14293.1	.	.	.	.	.	.	.	.	.	.	g	18.59	3.655772	0.67586	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	T;T;T	0.02177	4.41;4.41;4.41	5.28	5.28	0.74379	.	0.110120	0.36303	U	0.002674	T	0.13157	0.0319	M	0.87180	2.865	0.52501	D	0.999952	P	0.50819	0.939	P	0.59825	0.864	T	0.00222	-1.1904	10	0.59425	D	0.04	.	15.3095	0.74019	0.0:0.0:1.0:0.0	.	426	Q8WUX1	S38A5_HUMAN	T	426;375;426	ENSP00000366073:P426T;ENSP00000366071:P375T;ENSP00000313740:P426T	ENSP00000313740:P426T	P	-	1	0	SLC38A5	48202907	1.000000	0.71417	0.953000	0.39169	0.893000	0.52053	6.082000	0.71318	2.206000	0.71126	0.523000	0.50628	CCC		0.567	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518		6	16	1	0	0.00307968	1	0.00312187	6	16					T	48317963	G	T	48317963	3	4	16	1	0	0	0	0	1	0	0	0	14622	1261	44	5	150	5	SLC38A5	23	48317963	Missense_Mutation	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08	11289482	48317963	106952597	56	1119										
FAM123B	139285	broad.mit.edu	37	chrX	63410192	63410192	+	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	taggaggtatgcaacaggttGcctgcctatatggagactgg	14	7	0	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:63410192G>A	ENST00000330258.3	-	2	3247	c.2975C>T	c.(2974-2976)gCa>gTa	p.A992V	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	992	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GCAACAGGTTGCCTGCCTATA	0.572																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(2974-2976)gCa>gTa		APC membrane recruitment protein 1							42	44	44					X																	63410192		2056	4174	6230	SO:0001583	missense	139285							g.chrX:63410192G>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2975C>T	X.37:g.63410192G>A	ENSP00000329117:p.Ala992Val		Somatic				AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	p.A992V	NM_152424.3	NP_689637.3	WXS	Illumina GAIIx	Phase_I					2	3247	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.2975C>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	8.578	0.881705	0.17467	.	.	ENSG00000184675	ENST00000330258	T	0.51817	0.69	5.04	3.23	0.37069	.	.	.	.	.	T	0.27900	0.0687	N	0.19112	0.55	0.51767	D	0.999935	B	0.22800	0.075	B	0.16722	0.016	T	0.04537	-1.0944	8	.	.	.	1.8099	7.3786	0.26843	0.0936:0.1646:0.7418:0.0	.	992	Q5JTC6	F123B_HUMAN	V	992	ENSP00000329117:A992V	.	A	-	2	0	FAM123B	63326917	0.475000	0.25894	0.021000	0.16686	0.056000	0.15407	1.457000	0.35212	0.618000	0.30179	0.529000	0.55759	GCA		0.572	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		10	38	0	0	0	1	0	10	38					A	63410192	G	A	63410192	3	1	16	1	0	0	0	0	1	0	0	0	5428	1319	46	3	436	3	FAM123B	23	63410192	Missense_Mutation	SNP	G	TCGA-N6-A4VC-01A-11D-A28R-08	15092229	63410192	91860368	57	1120										
TAF1	6872	broad.mit.edu	37	chrX	70607293	70607293	+	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	tccaaaagggccaatacgcaTattcgagactttctacaggt	8	10	1	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:70607293T>C	ENST00000373790.4	+	15	2457	c.2406T>C	c.(2404-2406)caT>caC	p.H802H	TAF1_ENST00000449580.1_Silent_p.H802H|TAF1_ENST00000423759.1_Silent_p.H823H|TAF1_ENST00000276072.3_Silent_p.H823H	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	802	Histone acetyltransferase (HAT).				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)				CCAATACGCATATTCGAGACT	0.488																																						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.(2404-2406)caT>caC		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							94	83	87					X																	70607293		2203	4300	6503	SO:0001819	synonymous_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70607293T>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.2406T>C	X.37:g.70607293T>C			Somatic				TAF1_ENST00000276072.3_Silent_p.H823H|TAF1_ENST00000373790.4_Silent_p.H802H|TAF1_ENST00000423759.1_Silent_p.H823H	p.H802H			WXS	Illumina GAIIx	Phase_I	P21675	TAF1_HUMAN			15	2457	+	Renal(35;0.156)	all_lung(315;0.000321)	802					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	c.2406T>C	CCDS35325.1																																																																																				0.488	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		9	77	0	0	0	1	0	9	77					C	70607293	T	C	70607293	2	2	16	1	0	0	0	0	0	0	0	1	15528	1403	49	4		4	TAF1	23	70607293	Silent	SNP	T	TCGA-N6-A4VC-01A-11D-A28R-08	7197101	70607293	84663267	58	1121										
ABCB7	22	broad.mit.edu	37	chrX	74334628	74334628	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tgtcctgaattgccttttccCaatctctgccatgtgatact	6	12	1	2			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:74334628C>A	ENST00000373394.3	-	2	214	c.207G>T	c.(205-207)ttG>ttT	p.L69F	ABCB7_ENST00000339447.4_Missense_Mutation_p.L69F|ABCB7_ENST00000253577.3_Missense_Mutation_p.L70F			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	69					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)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TGCCTTTTCCCAATCTCTGCC	0.378																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(208-210)ttG>ttT		ATP-binding cassette, sub-family B (MDR/TAP), member 7							149	116	127					X																	74334628		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:74334628C>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.207G>T	X.37:g.74334628C>A	ENSP00000362492:p.Leu69Phe		Somatic				ABCB7_ENST00000373394.3_Missense_Mutation_p.L69F|ABCB7_ENST00000339447.4_Missense_Mutation_p.L69F	p.L70F	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	WXS	Illumina GAIIx	Phase_I	O75027	ABCB7_HUMAN			2	234	-			69					G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.210G>T		.	.	.	.	.	.	.	.	.	.	C	3.532	-0.095442	0.07010	.	.	ENSG00000131269	ENST00000253577;ENST00000339447;ENST00000373394;ENST00000526404	D;D;D	0.88431	-2.34;-2.38;-2.34	5.24	-0.0882	0.13674	.	0.936623	0.09014	N	0.861073	T	0.74007	0.3660	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.57341	-0.7828	10	0.09590	T	0.72	0.1528	4.4662	0.11691	0.1631:0.4476:0.0:0.3893	.	69;70;69;70	G3XAC4;B3KM98;O75027;O75027-2	.;.;ABCB7_HUMAN;.	F	70;69;69;82	ENSP00000253577:L70F;ENSP00000343849:L69F;ENSP00000362492:L69F	ENSP00000253577:L70F	L	-	3	2	ABCB7	74251353	0.015000	0.18098	0.288000	0.24862	0.230000	0.25150	-0.265000	0.08644	-0.044000	0.13491	0.284000	0.19432	TTG		0.378	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		5	21	1	0	1.23904e-05	1	1.29139e-05	5	21					A	74334628	C	A	74334628	3	1	16	1	0	0	0	0	1	0	0	0	46	593	21	5	2111	5	ABCB7	23	74334628	Missense_Mutation	SNP	C	TCGA-N6-A4VC-01A-11D-A28R-08	3727335	74334628	80935932	59	1122										
KLHL4	56062	broad.mit.edu	37	chrX	86888868	86888868	+	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	ggaattacgtagccagtatgTcaactcctagaagcacagtt	9	9	1	1			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:86888868T>G	ENST00000373119.4	+	8	1814	c.1669T>G	c.(1669-1671)Tca>Gca	p.S557A	KLHL4_ENST00000373114.4_Missense_Mutation_p.S557A	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	557						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						AGCCAGTATGTCAACTCCTAG	0.423																																						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.(1669-1671)Tca>Gca		kelch-like family member 4							165	131	142					X																	86888868		2203	4300	6503	SO:0001583	missense	0					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86888868T>G	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.1669T>G	X.37:g.86888868T>G	ENSP00000362211:p.Ser557Ala		Somatic				KLHL4_ENST00000373114.4_Missense_Mutation_p.S557A	p.S557A	NM_019117.4	NP_061990.2	WXS	Illumina GAIIx	Phase_I	Q9C0H6	KLHL4_HUMAN			8	1814	+			557					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1669T>G	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.796013	0.50208	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.66815	-0.23;-0.23	4.72	3.51	0.40186	Galactose oxidase, beta-propeller (1);	0.072240	0.64402	D	0.000019	T	0.59878	0.2226	L	0.53780	1.695	0.58432	D	0.999997	B;B	0.16166	0.011;0.016	B;B	0.22880	0.042;0.026	T	0.55842	-0.8077	10	0.52906	T	0.07	.	9.0941	0.36629	0.1661:0.0:0.0:0.8339	.	557;557	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	A	557	ENSP00000362211:S557A;ENSP00000362206:S557A	ENSP00000362206:S557A	S	+	1	0	KLHL4	86775524	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	5.588000	0.67517	0.603000	0.29913	0.412000	0.27726	TCA		0.423	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			4	54	0	0	0	1	0	4	54					G	86888868	T	G	86888868	3	3	16	1	0	0	0	0	1	0	0	0	8400	1667	58	4	1699	4	KLHL4	23	86888868	Missense_Mutation	SNP	T	TCGA-N6-A4VC-01A-11D-A28R-08	12554240	86888868	68381692	60	1123										
SLC6A9	6536	broad.mit.edu	37	chr1	44474144	44474144	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ttggaggcgtccagtacaccGgcgcagtcatgcgtgttcca	13	12	1	0	rs200658319		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:44474144G>A	ENST00000360584.2	-	5	881	c.690C>T	c.(688-690)gcC>gcT	p.A230A	SLC6A9_ENST00000492434.2_5'Flank|SLC6A9_ENST00000357730.2_Silent_p.A176A|SLC6A9_ENST00000372306.3_Silent_p.A157A|SLC6A9_ENST00000475075.2_Silent_p.A46A|SLC6A9_ENST00000537678.1_Silent_p.A92A|SLC6A9_ENST00000372310.3_Silent_p.A157A|SLC6A9_ENST00000372307.3_Silent_p.A92A	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	230					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A230A(1)|p.A157A(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCAGTACACCGGCGCAGTCAT	0.607																																						ENST00000372310.3																			2	Substitution - coding silent(2)	p.A230A(1)|p.A157A(1)	lung(2)	endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(469-471)gcC>gcT		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)	G	,,	1,4405	2.1+/-5.4	0,1,2202	139	124	129		471,528,690	-7.9	0	1		129	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC6A9	NM_001024845.1,NM_006934.2,NM_201649.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	157/634,176/653,230/707	44474144	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44474144G>A	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.690C>T	1.37:g.44474144G>A			Somatic				SLC6A9_ENST00000372306.3_Silent_p.A157A|SLC6A9_ENST00000475075.2_Silent_p.A46A|SLC6A9_ENST00000372307.3_Silent_p.A92A|SLC6A9_ENST00000360584.2_Silent_p.A230A|SLC6A9_ENST00000537678.1_Silent_p.A92A|SLC6A9_ENST00000357730.2_Silent_p.A176A	p.A157A	NM_001024845.2	NP_001020016.1	WXS	Illumina GAIIx	Phase_I	P48067	SC6A9_HUMAN			5	636	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	230					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	c.471C>T	CCDS41317.1																																																																																				0.607	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		34	58	0	0	0	1	0	34	58					A	44474144	G	A	44474144	2	1	17	1	0	0	0	0	0	0	0	1	14706	1103	39	1		1	SLC6A9	1	44474144	Silent	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08		44474144	204776477	1	1124										
PLK3	1263	broad.mit.edu	37	chr1	45268952	45268952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ctccctagggctacacccccGatcgactccctatcagcagc	7	19	1	0	rs370347467		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:45268952G>A	ENST00000372201.4	+	8	1200	c.961G>A	c.(961-963)Gat>Aat	p.D321N	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	321					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)					CTACACCCCCGATCGACTCCC	0.577																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(961-963)Gat>Aat		polo-like kinase 3		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	62	66	64		961	4.6	1	1		64	0,8600		0,0,4300	no	missense	PLK3	NM_004073.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	321/647	45268952	1,13005	2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45268952G>A	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.961G>A	1.37:g.45268952G>A	ENSP00000361275:p.Asp321Asn		Somatic				PLK3_ENST00000465443.1_3'UTR	p.D321N	NM_004073.2	NP_004064.2	WXS	Illumina GAIIx	Phase_I	Q9H4B4	PLK3_HUMAN			8	1200	+	Acute lymphoblastic leukemia(166;0.155)		321					Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.961G>A	CCDS515.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908516	0.72868	2.27E-4	0.0	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.24908	1.83	5.52	4.61	0.57282	Protein kinase-like domain (1);	.	.	.	.	T	0.32496	0.0831	M	0.77313	2.365	0.51482	D	0.99992	B	0.29432	0.244	B	0.26310	0.068	T	0.14254	-1.0479	9	0.48119	T	0.1	-17.4949	14.9569	0.71124	0.0:0.0:0.8563:0.1437	.	321	Q9H4B4	PLK3_HUMAN	N	321;296	ENSP00000361275:D321N	ENSP00000361275:D321N	D	+	1	0	PLK3	45041539	1.000000	0.71417	0.994000	0.49952	0.701000	0.40568	7.642000	0.83385	1.333000	0.45449	0.561000	0.74099	GAT		0.577	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		29	45	0	0	0	1	0	29	45					A	45268952	G	A	45268952	3	1	17	1	0	0	0	0	1	0	0	0	12106	1058	37	1	991	1	PLK3	1	45268952	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	794808	45268952	203981669	2	1125										
C1orf168	199920	broad.mit.edu	37	chr1	57206384	57206384	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ttttaccttaagttttctttCgacttggttttctttatttt	4	6	2	0	rs140363025		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:57206384C>T	ENST00000343433.6	-	13	1769	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	563										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AGTTTTCTTTCGACTTGGTTT	0.363													T|||	1	0.000199681	0	0	5008	,	,		18005	0		0	False		,,,				2504	0.001					ENST00000343433.6																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						c.(1687-1689)tcG>tcA		chromosome 1 open reading frame 168		T		0,4406		0,0,2203	106	98	101		1689	-4.9	0.1	1	dbSNP_134	101	1,8595	815.5+/-407.0	0,1,4297	no	coding-synonymous	C1orf168	NM_001004303.4		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		563/729	57206384	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	199920							g.chr1:57206384C>T	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1689G>A	1.37:g.57206384C>T			Somatic				C1orf168_ENST00000484327.1_5'UTR	p.S563S	NM_001004303.4	NP_001004303.3	WXS	Illumina GAIIx	Phase_I	Q5VWT5	CA168_HUMAN			13	1769	-			563					Q63HM3|Q6ZUY6	Silent	SNP	ENST00000343433.6	37	c.1689G>A	CCDS30729.1																																																																																				0.363	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		7	13	0	0	0	1	0	7	13					T	57206384	C	T	57206384	2	4	17	1	0	0	0	0	0	0	0	1	2014	871	31	1		1	C1orf168	1	57206384	Silent	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	11937432	57206384	192044237	3	1126										
FCRL4	83417	broad.mit.edu	37	chr1	157551320	157551320	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ggcaaagaaaagagcacaaaCctgacttcctccgacgccag	9	13	0	3			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:157551320C>T	ENST00000271532.1	-	7	1385		c.e7+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)				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)				AGAGCACAAACCTGACTTCCT	0.597																																						ENST00000271532.1																			0				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.e7+1		Fc receptor-like 4							78	66	70					1																	157551320		2203	4300	6503	SO:0001630	splice_region_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157551320C>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.1249+1G>A	1.37:g.157551320C>T			Somatic				FCRL4_ENST00000448509.2_Splice_Site		NM_031282.2	NP_112572.1	WXS	Illumina GAIIx	Phase_I	Q96PJ5	FCRL4_HUMAN			7	1385	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)						Q96PJ3|Q96RE0	Splice_Site	SNP	ENST00000271532.1	37		CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763141	0.49574	.	.	ENSG00000163518	ENST00000271532	.	.	.	4.63	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3882	0.32512	0.0:0.8935:0.0:0.1065	.	.	.	.	.	-1	.	.	.	-	.	.	FCRL4	155817944	0.982000	0.34865	1.000000	0.80357	0.845000	0.48019	1.515000	0.35845	1.153000	0.42468	0.467000	0.42956	.		0.597	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282	Intron	24	29	0	0	0	1	0	24	29					T	157551320	C	T	157551320	5	4	17	1	0	0	0	0	0	0	1	0	5805	521	18	3	321	3	FCRL4	1	157551320	Splice_Site	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	100344936	157551320	91699301	4	1127										
SPTA1	6708	broad.mit.edu	37	chr1	158618428	158618428	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ttcttctcaatctgctccttCgtgtcatctgcttctctggt	6	13	6	0			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:158618428C>T	ENST00000368147.4	-	26	3765	c.3585G>A	c.(3583-3585)acG>acA	p.T1195T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1195					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)					TCTGCTCCTTCGTGTCATCTG	0.498																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3583-3585)acG>acA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							100	97	98					1																	158618428		1956	4161	6117	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.chr1:158618428C>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.3585G>A	1.37:g.158618428C>T			Somatic				SPTA1_ENST00000368147.3_Silent_p.T1195T	p.T1195T	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			26	3765	-	all_hematologic(112;0.0378)		1195					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.3585G>A	CCDS41423.1																																																																																				0.498	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		37	39	0	0	0	1	0	37	39					T	158618428	C	T	158618428	2	4	17	1	0	0	0	0	0	0	0	1	15131	871	31	1		1	SPTA1	1	158618428	Silent	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	1067108	158618428	90632193	5	1128										
RPS6KC1	26750	broad.mit.edu	37	chr1	213302876	213302876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gatcatatttctaggcttctCcagtgacagtgatctggtat	9	8	4	2			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:213302876C>T	ENST00000366960.3	+	6	629	c.479C>T	c.(478-480)tCc>tTc	p.S160F	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S148F|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000543470.1_5'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	160					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTAGGCTTCTCCAGTGACAGT	0.333																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(478-480)tCc>tTc		ribosomal protein S6 kinase, 52kDa, polypeptide 1							113	117	115					1																	213302876		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213302876C>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.479C>T	1.37:g.213302876C>T	ENSP00000355927:p.Ser160Phe		Somatic				RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S148F|RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_5'UTR	p.S160F	NM_012424.3	NP_036556.2	WXS	Illumina GAIIx	Phase_I	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	6	629	+			160					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.479C>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365160	0.82463	.	.	ENSG00000136643	ENST00000366960;ENST00000366959	T;T	0.37584	1.19;1.2	5.53	5.53	0.82687	.	0.062535	0.64402	D	0.000003	T	0.52517	0.1739	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.54536	-0.8279	10	0.87932	D	0	-21.5849	19.4827	0.95016	0.0:1.0:0.0:0.0	.	160;148	Q96S38;B1APS8	KS6C1_HUMAN;.	F	160;148	ENSP00000355927:S160F;ENSP00000355926:S148F	ENSP00000355926:S148F	S	+	2	0	RPS6KC1	211369499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.629000	0.74267	2.601000	0.87937	0.585000	0.79938	TCC		0.333	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		21	43	0	0	0	1	0	21	43					T	213302876	C	T	213302876	3	4	17	1	0	0	0	0	1	0	0	0	13673	855	30	3	501	3	RPS6KC1	1	213302876	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	54684448	213302876	35947745	6	1129										
IARS2	55699	broad.mit.edu	37	chr1	220287663	220287664	+	Frame_Shift_Ins	INS	-	-	A													0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	aattaattgcaggaattgttINSaaaaaaggtgaaatttattc							TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:220287663_220287664insA	ENST00000302637.5	+	12	1591_1592	c.1487_1488insA	c.(1486-1491)ttaaaafs	p.LK496fs	IARS2_ENST00000366922.1_Frame_Shift_Ins_p.LK424fs	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	496					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)	CAGGAATTGTTAAAAAAGGTGA	0.366																																						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.(1270-1272)taafs		isoleucyl-tRNA synthetase 2, mitochondrial	L-Isoleucine(DB00167)																																			SO:0001589	frameshift_variant	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220287663_220287664insA	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.1493dupA	1.37:g.220287669_220287669dupA	ENSP00000303279:p.Leu496fs		Somatic				IARS2_ENST00000302637.5_Frame_Shift_Ins_p.*496fs	p.*424fs			WXS	Illumina GAIIx	Phase_I	Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	12	1602_1603	+			496					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Frame_Shift_Ins	INS	ENST00000302637.5	37	c.1271_1272insA	CCDS1523.1																																																																																				0.366	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		22	59						22	59	---	---	---	---	A	220287664	-	A	220287663	7	5	17	1	0	1	1	0	0	0	0	0	7483	1764	61	0	1533	0	IARS2	1	220287663	Frame_Shift_Ins	INS	-	TCGA-N6-A4VD-01A-11D-A28R-08	6984787	220287663	28962958	7	1130										
FMN2	56776	broad.mit.edu	37	chr1	240371620	240371620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ccccacctccccctctacccGgagcgggcataccccctccg	7	24	1	0			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:240371620G>A	ENST00000319653.9	+	5	3738	c.3508G>A	c.(3508-3510)Gga>Aga	p.G1170R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1170	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTCTACCCGGAGCGGGCAT	0.692																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3508-3510)Gga>Aga		formin 2							7	8	8					1																	240371620		2139	4219	6358	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.chr1:240371620G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3508G>A	1.37:g.240371620G>A	ENSP00000318884:p.Gly1170Arg		Somatic					p.G1170R	NM_020066.4	NP_064450.3	WXS	Illumina GAIIx	Phase_I	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3738	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1170			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3508G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	g	6.580	0.475409	0.12521	.	.	ENSG00000155816	ENST00000319653	T	0.67865	-0.29	2.84	1.88	0.25563	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	.	.	.	.	T	0.75406	0.3845	M	0.84846	2.72	0.22489	N	0.999056	D	0.59357	0.985	P	0.52189	0.692	T	0.65573	-0.6135	8	.	.	.	.	9.7225	0.40311	0.0:0.2133:0.7867:0.0	.	1170	Q9NZ56	FMN2_HUMAN	R	1170	ENSP00000318884:G1170R	.	G	+	1	0	FMN2	238438243	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.474000	0.22148	0.508000	0.28173	0.484000	0.47621	GGA		0.692	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		6	15	0	0	0	1	0	6	15					A	240371620	G	A	240371620	3	1	17	1	0	0	0	0	1	0	0	0	5958	1117	39	1	3526	1	FMN2	1	240371620	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	20083957	240371620	8879001	8	1131										
TPO	7173	broad.mit.edu	37	chr2	1457506	1457506	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cctccaacacggccctggcaCgatggctccctccagtctat	8	18	1	0			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:1457506C>T	ENST00000345913.4	+	6	614	c.523C>T	c.(523-525)Cga>Tga	p.R175*	TPO_ENST00000382201.3_Nonsense_Mutation_p.R175*|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Nonsense_Mutation_p.R175*|TPO_ENST00000337415.3_Nonsense_Mutation_p.R175*|TPO_ENST00000349624.3_Nonsense_Mutation_p.R175*|TPO_ENST00000346956.3_Nonsense_Mutation_p.R175*|TPO_ENST00000329066.4_Nonsense_Mutation_p.R175*	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	175					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)	GGCCCTGGCACGATGGCTCCC	0.602																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	GRCh37	CM076569	TPO	M		c.(523-525)Cga>Tga		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						67	74	72					2																	1457506		2203	4300	6503	SO:0001587	stop_gained	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.chr2:1457506C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.523C>T	2.37:g.1457506C>T	ENSP00000318820:p.Arg175*		Somatic				TPO_ENST00000382198.1_Nonsense_Mutation_p.R175*|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Nonsense_Mutation_p.R175*|TPO_ENST00000329066.4_Nonsense_Mutation_p.R175*|TPO_ENST00000349624.3_Nonsense_Mutation_p.R175*|TPO_ENST00000346956.3_Nonsense_Mutation_p.R175*|TPO_ENST00000337415.3_Nonsense_Mutation_p.R175*	p.R175*	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)	6	614	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	175					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Nonsense_Mutation	SNP	ENST00000345913.4	37	c.523C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677699	0.29783	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	.	.	.	5.27	-2.09	0.07232	.	0.100474	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.1988	18.6177	0.91308	0.3252:0.6747:0.0:0.0	.	.	.	.	X	175;175;175;175;175;175;175;104	.	ENSP00000329869:R175X	R	+	1	2	TPO	1436513	0.105000	0.21958	0.017000	0.16124	0.203000	0.24098	0.390000	0.20768	-0.295000	0.08960	0.557000	0.71058	CGA		0.602	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		31	40	0	0	0	1	0	31	40					T	1457506	C	T	1457506	4	4	17	1	0	0	0	0	0	1	0	0	16425	528	19	1	541	1	TPO	2	1457506	Nonsense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08		1457506	241741867	9	1132										
APOB	338	broad.mit.edu	37	chr2	21245884	21245884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	tgtcacaaactccacagacaCggagggttttgccaccagtt	9	12	1	1	rs564030306		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:21245884C>T	ENST00000233242.1	-	18	2762	c.2635G>A	c.(2635-2637)Gtg>Atg	p.V879M		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	879					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)					TCCACAGACACGGAGGGTTTT	0.478													C|||	1	0.000199681	0	0	5008	,	,		20919	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.(2635-2637)Gtg>Atg		apolipoprotein B	Atorvastatin(DB01076)						103	105	105					2																	21245884		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.chr2:21245884C>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.2635G>A	2.37:g.21245884C>T	ENSP00000233242:p.Val879Met		Somatic					p.V879M	NM_000384.2	NP_000375.2	WXS	Illumina GAIIx	Phase_I	P04114	APOB_HUMAN			18	2762	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		879					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2635G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981602	0.74474	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.21932	1.98	5.51	4.64	0.57946	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.108661	0.40302	N	0.001133	T	0.34279	0.0892	M	0.78916	2.43	0.80722	D	1	D	0.63880	0.993	P	0.49922	0.626	T	0.20371	-1.0277	10	0.49607	T	0.09	.	11.6947	0.51536	0.0:0.8573:0.0:0.1427	.	879	P04114	APOB_HUMAN	M	879	ENSP00000233242:V879M	ENSP00000233242:V879M	V	-	1	0	APOB	21099389	0.755000	0.28372	1.000000	0.80357	0.926000	0.56050	1.475000	0.35409	1.483000	0.48342	0.655000	0.94253	GTG		0.478	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			25	43	0	0	0	1	0	25	43					T	21245884	C	T	21245884	3	4	17	1	0	0	0	0	1	0	0	0	785	536	19	1	11104	1	APOB	2	21245884	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	19788378	21245884	221953489	10	1133										
APOB	338	broad.mit.edu	37	chr2	21256329	21256329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	agagtcttcaaaacagcttcGgcctgctttggaggtgatgt	12	8	2	2			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:21256329G>A	ENST00000233242.1	-	9	1093	c.966C>T	c.(964-966)gcC>gcT	p.A322A	APOB_ENST00000399256.4_Silent_p.A322A	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	322	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)					AAACAGCTTCGGCCTGCTTTG	0.438																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(964-966)gcC>gcT		apolipoprotein B	Atorvastatin(DB01076)						180	172	175					2																	21256329		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.chr2:21256329G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.966C>T	2.37:g.21256329G>A			Somatic				APOB_ENST00000399256.4_Silent_p.A322A	p.A322A	NM_000384.2	NP_000375.2	WXS	Illumina GAIIx	Phase_I	P04114	APOB_HUMAN			9	1093	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		322			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.966C>T	CCDS1703.1																																																																																				0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			39	52	0	0	0	1	0	39	52					A	21256329	G	A	21256329	2	1	17	1	0	0	0	0	0	0	0	1	785	1103	39	1		1	APOB	2	21256329	Silent	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	10445	21256329	221943044	11	1134										
REG3G	130120	broad.mit.edu	37	chr2	79254978	79254978	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gggagtggagtagcactgatGtgatgaattactttgcatgg	15	4	0	3			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:79254978G>A	ENST00000272324.5	+	5	563	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	REG3G_ENST00000409471.1_Missense_Mutation_p.V81M|REG3G_ENST00000393897.2_Missense_Mutation_p.V127M	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	127	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)			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						TAGCACTGATGTGATGAATTA	0.498																																						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.(379-381)Gtg>Atg		regenerating islet-derived 3 gamma							160	153	155					2																	79254978		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79254978G>A	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.379G>A	2.37:g.79254978G>A	ENSP00000272324:p.Val127Met		Somatic				REG3G_ENST00000409471.1_Missense_Mutation_p.V81M|REG3G_ENST00000393897.2_Missense_Mutation_p.V127M	p.V127M	NM_001008387.2	NP_001008388.1	WXS	Illumina GAIIx	Phase_I	Q6UW15	REG3G_HUMAN			5	563	+			127			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.379G>A	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185157	0.38609	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.18810	2.19;2.19;2.27	4.74	-2.84	0.05751	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.485095	0.17272	N	0.180332	T	0.16981	0.0408	L	0.49571	1.57	0.09310	N	1	P;B	0.44309	0.832;0.043	P;B	0.47346	0.544;0.075	T	0.09818	-1.0657	10	0.41790	T	0.15	.	0.3146	0.00293	0.3386:0.1353:0.25:0.2762	.	81;127	Q3SYE6;Q6UW15	.;REG3G_HUMAN	M	127;127;81	ENSP00000377475:V127M;ENSP00000272324:V127M;ENSP00000387105:V81M	ENSP00000272324:V127M	V	+	1	0	REG3G	79108486	0.004000	0.15560	0.000000	0.03702	0.006000	0.05464	-0.539000	0.06113	-0.458000	0.07023	-0.181000	0.13052	GTG		0.498	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		47	73	0	0	0	1	0	47	73					A	79254978	G	A	79254978	3	1	17	1	0	0	0	0	1	0	0	0	13228	1377	48	3	393	3	REG3G	2	79254978	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	57998649	79254978	163944395	12	1135										
AFF3	3899	broad.mit.edu	37	chr2	100266099	100266099	+	Silent	SNP	A	A	T													0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	aaaatgtacctgtcagagagAgcgcggagagccgttctctg							TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:100266099A>T	ENST00000409236.2	-	11	1285	c.1173T>A	c.(1171-1173)gcT>gcA	p.A391A	AFF3_ENST00000356421.2_Silent_p.A416A|AFF3_ENST00000409579.1_Silent_p.A416A|AFF3_ENST00000317233.4_Silent_p.A391A			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	391					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						TGTCAGAGAGAGCGCGGAGAG	0.368																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1171-1173)gcT>gcA		AF4/FMR2 family, member 3							86	99	94					2																	100266099		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100266099A>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1173T>A	2.37:g.100266099A>T			Somatic				AFF3_ENST00000409579.1_Silent_p.A416A|AFF3_ENST00000409236.1_Silent_p.A391A|AFF3_ENST00000356421.2_Silent_p.A416A	p.A391A	NM_002285.2	NP_002276.2	WXS	Illumina GAIIx	Phase_I	P51826	AFF3_HUMAN			12	1408	-			391					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.1173T>A	CCDS42723.1																																																																																				0.368	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		19	59	0	0	0	1	0	19	59					T	100266099	A	T	100266099	2	4	17	1	0	0	0	0	0	0	0	1	358	291	11	4		4	AFF3	2	100266099	Silent	SNP	A	TCGA-N6-A4VD-01A-11D-A28R-08	21011121	100266099	142933274	13	1136	6	2								
AFF3	3899	broad.mit.edu	37	chr2	100266101	100266101	+	Missense_Mutation	SNP	C	C	T													0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	aatgtacctgtcagagagagCgcggagagccgttctctgag					rs546235334		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:100266101C>T	ENST00000409236.2	-	11	1283	c.1171G>A	c.(1171-1173)Gct>Act	p.A391T	AFF3_ENST00000356421.2_Missense_Mutation_p.A416T|AFF3_ENST00000409579.1_Missense_Mutation_p.A416T|AFF3_ENST00000317233.4_Missense_Mutation_p.A391T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	391					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						TCAGAGAGAGCGCGGAGAGCC	0.363																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1171-1173)Gct>Act		AF4/FMR2 family, member 3							86	99	94					2																	100266101		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100266101C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1171G>A	2.37:g.100266101C>T	ENSP00000387207:p.Ala391Thr		Somatic				AFF3_ENST00000409579.1_Missense_Mutation_p.A416T|AFF3_ENST00000409236.1_Missense_Mutation_p.A391T|AFF3_ENST00000356421.2_Missense_Mutation_p.A416T	p.A391T	NM_002285.2	NP_002276.2	WXS	Illumina GAIIx	Phase_I	P51826	AFF3_HUMAN			12	1406	-			391					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1171G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401616	0.25291	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.70045	-0.44;-0.45;-0.45;-0.44	6.08	2.39	0.29439	.	0.707240	0.12274	N	0.483522	T	0.43875	0.1267	N	0.08118	0	0.24121	N	0.995801	B;B;B	0.17268	0.001;0.021;0.007	B;B;B	0.12156	0.003;0.007;0.004	T	0.22103	-1.0226	10	0.20519	T	0.43	.	10.5302	0.44973	0.0:0.7659:0.0:0.2341	.	544;391;416	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	T	391;416;416;391;391;544;416	ENSP00000317421:A391T;ENSP00000348793:A416T;ENSP00000386834:A416T;ENSP00000387207:A391T	ENSP00000317421:A391T	A	-	1	0	AFF3	99632533	0.183000	0.23186	0.987000	0.45799	0.820000	0.46376	-0.174000	0.09839	0.181000	0.19994	-0.726000	0.03593	GCT		0.363	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		18	60	0	0	0	1	0	18	60					T	100266101	C	T	100266101	3	4	17	1	0	0	0	0	1	0	0	0	358	768	27	1	2561	1	AFF3	2	100266101	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	2	100266101	142933272	14	1137	6	2								
CCDC148	130940	broad.mit.edu	37	chr2	159215037	159215037	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gttgatagtctactggtttgTacttgatgtttctcatctca	8	7	3	2			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:159215037T>C	ENST00000283233.5	-	2	384	c.71A>G	c.(70-72)tAc>tGc	p.Y24C	CCDC148_ENST00000409889.1_Missense_Mutation_p.Y24C|CCDC148_ENST00000409187.1_Missense_Mutation_p.Y33C|CCDC148_ENST00000536771.1_Intron	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	24										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TACTGGTTTGTACTTGATGTT	0.328																																						ENST00000283233.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(70-72)tAc>tGc		coiled-coil domain containing 148							189	172	178					2																	159215037		2201	4300	6501	SO:0001583	missense	130940							g.chr2:159215037T>C		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.71A>G	2.37:g.159215037T>C	ENSP00000283233:p.Tyr24Cys		Somatic				CCDC148_ENST00000409187.1_Missense_Mutation_p.Y33C|CCDC148_ENST00000409889.1_Missense_Mutation_p.Y24C|CCDC148_ENST00000536771.1_Intron	p.Y24C	NM_138803.3	NP_620158.3	WXS	Illumina GAIIx	Phase_I	Q8NFR7	CC148_HUMAN			2	384	-			24					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	c.71A>G	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.240944	0.39598	.	.	ENSG00000153237	ENST00000283233;ENST00000409187;ENST00000409889	T;T;T	0.46819	0.86;0.86;0.86	5.52	5.52	0.82312	.	.	.	.	.	T	0.67297	0.2878	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71163	-0.4673	9	0.87932	D	0	-11.6576	13.6243	0.62155	0.0:0.0:0.0:1.0	.	24	Q8NFR7	CC148_HUMAN	C	24;33;24	ENSP00000283233:Y24C;ENSP00000386674:Y33C;ENSP00000386583:Y24C	ENSP00000283233:Y24C	Y	-	2	0	CCDC148	158923283	1.000000	0.71417	0.789000	0.31954	0.038000	0.13279	4.473000	0.60196	2.096000	0.63516	0.528000	0.53228	TAC		0.328	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		10	14	0	0	0	1	0	10	14					C	159215037	T	C	159215037	3	2	17	1	0	0	0	0	1	0	0	0	2784	1638	57	4	1808	4	CCDC148	2	159215037	Missense_Mutation	SNP	T	TCGA-N6-A4VD-01A-11D-A28R-08	58948936	159215037	83984336	15	1138										
PHOSPHO2	493911	broad.mit.edu	37	chr2	170557640	170557640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	tttatgggcagagtctttaaGtatttgggagataagggtgt	14	2	1	2			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:170557640G>A	ENST00000359744.3	+	4	547	c.159G>A	c.(157-159)aaG>aaA	p.K53K	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	53							metal ion binding (GO:0046872)|pyridoxal phosphatase activity (GO:0033883)			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						GAGTCTTTAAGTATTTGGGAG	0.383																																						ENST00000359744.3																			0				breast(1)|large_intestine(1)|lung(6)|skin(2)	10						c.(157-159)aaG>aaA		phosphatase, orphan 2							100	102	101					2																	170557640		2203	4300	6503	SO:0001819	synonymous_variant	493911						metal ion binding|pyridoxal phosphatase activity	g.chr2:170557640G>A	BC022324	CCDS33319.1	2q31.1	2008-02-05			ENSG00000144362	ENSG00000144362			28316	protein-coding gene	gene with protein product						16054448	Standard	NM_001199285		Approved	MGC22679	uc021vsh.1	Q8TCD6	OTTHUMG00000153981	ENST00000359744.3:c.159G>A	2.37:g.170557640G>A			Somatic				KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron	p.K53K	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	WXS	Illumina GAIIx	Phase_I	Q8TCD6	PHOP2_HUMAN			4	547	+			53					B2RC30|D3DPC7	Silent	SNP	ENST00000359744.3	37	c.159G>A	CCDS33319.1																																																																																				0.383	PHOSPHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333304.1	NM_001008489		30	32	0	0	0	1	0	30	32					A	170557640	G	A	170557640	2	1	17	1	0	0	0	0	0	0	0	1	11866	1020	36	3		3	PHOSPHO2	2	170557640	Silent	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	11342603	170557640	72641733	16	1139										
STK16	8576	broad.mit.edu	37	chr2	220112473	220112473	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gtcatcgatgagcggactgaTgtctgggtgaggagcatgtg	17	6	2	3			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:220112473T>A	ENST00000409638.3	+	6	823	c.651T>A	c.(649-651)gaT>gaA	p.D217E	STK16_ENST00000409743.1_Intron|GLB1L_ENST00000295759.7_5'Flank|TUBA4A_ENST00000498660.1_5'Flank|GLB1L_ENST00000356283.3_5'Flank|STK16_ENST00000409260.1_Missense_Mutation_p.D262E|STK16_ENST00000396738.2_Missense_Mutation_p.D217E|STK16_ENST00000409516.3_Missense_Mutation_p.D99E|GLB1L_ENST00000392089.2_5'Flank	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCGGACTGATGTCTGGGTGA	0.587																																					Pancreas(34;887 922 17165 36961 39622)	ENST00000409638.3																			0				skin(1)	1						c.(649-651)gaT>gaA		serine/threonine kinase 16							54	50	51					2																	220112473		2060	4206	6266	SO:0001583	missense	8576				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:220112473T>A	AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.651T>A	2.37:g.220112473T>A	ENSP00000386928:p.Asp217Glu		Somatic				STK16_ENST00000409260.1_Missense_Mutation_p.D262E|STK16_ENST00000409743.1_Intron|STK16_ENST00000396738.2_Missense_Mutation_p.D217E|STK16_ENST00000409516.3_Missense_Mutation_p.D99E	p.D217E	NM_001008910.2	NP_001008910.1	WXS	Illumina GAIIx	Phase_I	O75716	STK16_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	823	+		Renal(207;0.0474)	217			Protein kinase.		A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Missense_Mutation	SNP	ENST00000409638.3	37	c.651T>A	CCDS42822.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.689427	0.68271	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409516;ENST00000409260	T;T;D;D	0.94232	-0.81;-0.81;-3.38;-3.38	5.28	1.76	0.24704	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	0.97558	0.9200	H	0.97635	4.045	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.972	D	0.97264	0.9906	10	0.87932	D	0	-15.6283	11.5759	0.50860	0.0:0.1159:0.0:0.8841	.	99;262;217	B4DPS1;B8ZZN3;O75716	.;.;STK16_HUMAN	E	217;217;99;262	ENSP00000386928:D217E;ENSP00000379964:D217E;ENSP00000386309:D99E;ENSP00000387156:D262E	ENSP00000379964:D217E	D	+	3	2	STK16	219820717	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	0.136000	0.15974	0.486000	0.27676	0.533000	0.62120	GAT		0.587	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1			5	4	0	0	0	1	0	5	4					A	220112473	T	A	220112473	3	1	17	1	0	0	0	0	1	0	0	0	15304	1461	51	4	669	4	STK16	2	220112473	Missense_Mutation	SNP	T	TCGA-N6-A4VD-01A-11D-A28R-08	49554833	220112473	23086900	17	1140										
GMPPA	29926	broad.mit.edu	37	chr2	220370460	220370460	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	atgtgtacatccacccgaccGccaaggtggccccctcggct	10	17	0	0	rs151043830		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:220370460G>A	ENST00000358215.3	+	10	1246	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	GMPPA_ENST00000373917.3_Missense_Mutation_p.A346T|GMPPA_ENST00000341142.3_Missense_Mutation_p.A293T|GMPPA_ENST00000373908.1_Missense_Mutation_p.A293T|GMPPA_ENST00000313597.5_Missense_Mutation_p.A293T|AC053503.11_ENST00000429882.1_RNA	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	293					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)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CCACCCGACCGCCAAGGTGGC	0.607													G|||	1	0.000199681	0	0	5008	,	,		16130	0.001		0	False		,,,				2504	0					ENST00000358215.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(877-879)Gcc>Acc		GDP-mannose pyrophosphorylase A		G	THR/ALA,THR/ALA	0,4406		0,0,2203	52	58	56		877,877	4.6	0.6	2	dbSNP_134	56	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	GMPPA	NM_013335.3,NM_205847.2	58,58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	293/421,293/421	220370460	2,13004	2203	4300	6503	SO:0001583	missense	29926				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.chr2:220370460G>A	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.877G>A	2.37:g.220370460G>A	ENSP00000350949:p.Ala293Thr		Somatic				AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Missense_Mutation_p.A293T|GMPPA_ENST00000373908.1_Missense_Mutation_p.A293T|GMPPA_ENST00000373917.3_Missense_Mutation_p.A346T|GMPPA_ENST00000313597.5_Missense_Mutation_p.A293T	p.A293T	NM_205847.2	NP_995319.1	WXS	Illumina GAIIx	Phase_I	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	10	1246	+		Renal(207;0.0183)	293					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.877G>A	CCDS2441.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	22.7	4.318948	0.81469	0.0	2.33E-4	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000341142	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.91626	0.7354	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94409	0.7630	10	0.87932	D	0	2.2368	17.1149	0.86686	0.0:0.0:1.0:0.0	.	346;293	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	T	293;346;293;293;293	ENSP00000315925:A293T;ENSP00000363027:A346T;ENSP00000350949:A293T;ENSP00000363016:A293T;ENSP00000340760:A293T	ENSP00000315925:A293T	A	+	1	0	GMPPA	220078704	1.000000	0.71417	0.585000	0.28666	0.653000	0.38743	6.078000	0.71282	2.113000	0.64589	0.457000	0.33378	GCC		0.607	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		18	27	0	0	0	1	0	18	27					A	220370460	G	A	220370460	3	1	17	1	0	0	0	0	1	0	0	0	6502	1087	38	1	911	1	GMPPA	2	220370460	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	257987	220370460	22828913	18	1141										
C2orf54	79919	broad.mit.edu	37	chr2	241829466	241829466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gtcagtctggccactgtcacGccagctctcgtggttgaccc	11	15	4	1			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:241829466G>A	ENST00000388934.4	-	3	1008	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	C2orf54_ENST00000402775.2_Missense_Mutation_p.R116C|C2orf54_ENST00000307486.8_Missense_Mutation_p.R135C	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	284										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCACTGTCACGCCAGCTCTCG	0.662																																						ENST00000307486.8																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6						c.(403-405)Cgt>Tgt		chromosome 2 open reading frame 54							46	56	52					2																	241829466		2087	4211	6298	SO:0001583	missense	79919							g.chr2:241829466G>A	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.850C>T	2.37:g.241829466G>A	ENSP00000373586:p.Arg284Cys		Somatic				C2orf54_ENST00000402775.2_Missense_Mutation_p.R116C|C2orf54_ENST00000388934.4_Missense_Mutation_p.R284C	p.R135C			WXS	Illumina GAIIx	Phase_I	Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	3	501	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	284					B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	ENST00000388934.4	37	c.403C>T	CCDS42839.1	.	.	.	.	.	.	.	.	.	.	G	5.326	0.245500	0.10077	.	.	ENSG00000172478	ENST00000402775;ENST00000307486;ENST00000388934	T;T;T	0.12569	2.67;2.67;2.67	3.73	-2.53	0.06326	.	0.804514	0.10184	N	0.705528	T	0.10252	0.0251	L	0.45581	1.43	0.26476	N	0.975192	B;B;B	0.19073	0.033;0.033;0.015	B;B;B	0.13407	0.009;0.009;0.005	T	0.36138	-0.9760	10	0.87932	D	0	-0.0959	3.0594	0.06195	0.1067:0.1075:0.2693:0.5166	.	284;135;116	Q08AI8;B3KU29;Q08AI8-3	CB054_HUMAN;.;.	C	116;135;284	ENSP00000385338:R116C;ENSP00000302779:R135C;ENSP00000373586:R284C	ENSP00000302779:R135C	R	-	1	0	C2orf54	241478139	0.012000	0.17670	0.099000	0.21106	0.088000	0.18126	-0.238000	0.08977	-0.330000	0.08514	0.555000	0.69702	CGT		0.662	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		20	37	0	0	0	1	0	20	37					A	241829466	G	A	241829466	3	1	17	1	0	0	0	0	1	0	0	0	2177	1087	38	1	505	1	C2orf54	2	241829466	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	21459006	241829466	1369907	19	1142										
SCN5A	6331	broad.mit.edu	37	chr3	38592967	38592977	+	Frame_Shift_Del	DEL	GCGGCCTATTC	GCGGCCTATTC	-													0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cctcggatcagtctgaggatGcggcctattcgggccaggcg					rs199473286|rs199473285|rs201559770|rs199473623		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr3:38592967_38592977delGCGGCCTATTC	ENST00000333535.4	-	28	5035_5045	c.4886_4896delGAATAGGCCGC	c.(4885-4896)cgaataggccgcfs	p.RIGR1629fs	SCN5A_ENST00000413689.1_Frame_Shift_Del_p.RIGR1629fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.RIGR1611fs|SCN5A_ENST00000423572.2_Frame_Shift_Del_p.RIGR1628fs|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.RIGR1611fs|SCN5A_ENST00000443581.1_Frame_Shift_Del_p.RIGR1628fs|SCN5A_ENST00000455624.2_Frame_Shift_Del_p.RIGR1596fs|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.RIGR1575fs|SCN5A_ENST00000449557.2_Frame_Shift_Del_p.RIGR1575fs|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.RIGR1575fs			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1629					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.I1630I(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCTGAGGATGCGGCCTATTCGGGCCAGGCG	0.592																																						ENST00000413689.1																			2	Substitution - coding silent(2)	p.I1630I(2)	lung(2)	NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM033023	SCN5A	M		c.(4885-4896)cfs		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)																																			SO:0001589	frameshift_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592967_38592977delGCGGCCTATTC	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.4886_4896delGAATAGGCCGC	3.37:g.38592967_38592977delGCGGCCTATTC	ENSP00000328968:p.Arg1629fs		Somatic				SCN5A_ENST00000455624.2_Frame_Shift_Del_p.RIGR1596fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.RIGR1611fs|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.RIGR1611fs|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.RIGR1575fs|SCN5A_ENST00000333535.4_Frame_Shift_Del_p.RIGR1629fs|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.RIGR1575fs|SCN5A_ENST00000449557.2_Frame_Shift_Del_p.RIGR1575fs|SCN5A_ENST00000423572.2_Frame_Shift_Del_p.RIGR1628fs|SCN5A_ENST00000443581.1_Frame_Shift_Del_p.RIGR1628fs	p.RIGR1629fs	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	5079_5089	-	Medulloblastoma(35;0.163)		1629					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Frame_Shift_Del	DEL	ENST00000333535.4	37	c.4886_4896delGAATAGGCCGC	CCDS46796.1																																																																																				0.592	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		13	116						13	116	---	---	---	---	-	38592977	GCGGCCTATTC	-	38592967	7	5	17	1	0	1	0	1	0	0	0	0	13937	1306	46	0	1158	0	SCN5A	3	38592967	Frame_Shift_Del	DEL	GCGGCCTATTC	TCGA-N6-A4VD-01A-11D-A28R-08		38592967	159429463	20	1143										
ALS2CL	259173	broad.mit.edu	37	chr3	46713390	46713390	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	tcaccgggcgcgcgacaccaCgtagatgagaagtggcagca	14	12	1	2			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr3:46713390C>T	ENST00000318962.4	-	24	2751	c.2668G>A	c.(2668-2670)Gtg>Atg	p.V890M	ALS2CL_ENST00000415953.1_Missense_Mutation_p.V890M|ALS2CL_ENST00000383742.3_Missense_Mutation_p.V237M	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	890	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CGCGACACCACGTAGATGAGA	0.627																																						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.(2668-2670)Gtg>Atg		ALS2 C-terminal like							73	57	62					3																	46713390		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.chr3:46713390C>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.2668G>A	3.37:g.46713390C>T	ENSP00000313670:p.Val890Met		Somatic				ALS2CL_ENST00000415953.1_Missense_Mutation_p.V890M|ALS2CL_ENST00000383742.3_Missense_Mutation_p.V237M	p.V890M	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)	24	2751	-			890			VPS9.		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.2668G>A	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095352	0.76870	.	.	ENSG00000178038	ENST00000318962;ENST00000415953;ENST00000383742	T;T;T	0.42513	0.97;0.97;0.97	5.29	5.29	0.74685	Vacuolar sorting protein 9 (2);	0.000000	0.53938	D	0.000053	T	0.65585	0.2705	M	0.73962	2.25	0.47862	D	0.999531	D	0.89917	1.0	D	0.97110	1.0	T	0.69461	-0.5139	10	0.87932	D	0	.	16.4135	0.83727	0.0:1.0:0.0:0.0	.	890	Q60I27	AL2CL_HUMAN	M	890;890;237	ENSP00000313670:V890M;ENSP00000413223:V890M;ENSP00000373248:V237M	ENSP00000313670:V890M	V	-	1	0	ALS2CL	46688394	1.000000	0.71417	0.994000	0.49952	0.525000	0.34531	6.354000	0.73036	2.465000	0.83290	0.650000	0.86243	GTG		0.627	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		15	24	0	0	0	1	0	15	24					T	46713390	C	T	46713390	3	4	17	1	0	0	0	0	1	0	0	0	551	536	19	1	205	1	ALS2CL	3	46713390	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	8120423	46713390	151309040	21	1144										
ITIH3	3699	broad.mit.edu	37	chr3	52833799	52833799	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cccttctcagaatcctggaaGatatgcaagaggaagactat	9	9	1	4			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr3:52833799G>A	ENST00000449956.2	+	9	943	c.937G>A	c.(937-939)Gat>Aat	p.D313N	ITIH3_ENST00000465243.2_3'UTR|ITIH3_ENST00000416872.2_Missense_Mutation_p.D313N	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	313	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AATCCTGGAAGATATGCAAGA	0.537																																						ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(937-939)Gat>Aat		inter-alpha-trypsin inhibitor heavy chain 3							55	59	58					3																	52833799		1892	4131	6023	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52833799G>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.937G>A	3.37:g.52833799G>A	ENSP00000415769:p.Asp313Asn		Somatic				ITIH3_ENST00000465243.2_3'UTR|ITIH3_ENST00000416872.2_Missense_Mutation_p.D313N	p.D313N	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)	9	943	+			313			VWFA.		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.937G>A	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124393	0.77436	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	D;D	0.83673	-1.75;-1.75	5.33	5.33	0.75918	von Willebrand factor, type A (3);	0.043807	0.85682	D	0.000000	D	0.89966	0.6868	M	0.62266	1.93	0.51233	D	0.999913	D;D	0.89917	1.0;0.97	D;D	0.91635	0.999;0.919	D	0.89742	0.3934	10	0.54805	T	0.06	-31.425	17.9616	0.89087	0.0:0.0:1.0:0.0	.	313;313	E7ET33;Q06033	.;ITIH3_HUMAN	N	313;301;308;313;313	ENSP00000413922:D313N;ENSP00000415769:D313N	ENSP00000273291:D308N	D	+	1	0	ITIH3	52808839	1.000000	0.71417	0.111000	0.21465	0.271000	0.26615	6.990000	0.76225	2.775000	0.95449	0.655000	0.94253	GAT		0.537	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		5	15	0	0	0	1	0	5	15					A	52833799	G	A	52833799	3	1	17	1	0	0	0	0	1	0	0	0	7914	942	33	3	971	3	ITIH3	3	52833799	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	6120409	52833799	145188631	22	1145										
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.H1047R	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	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			44	9	0	0	0	1	0	44	9					G	178952085	A	G	178952085	3	3	17	1	0	0	0	0	1	0	0	0	11922	217	8	4	3218	4	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-N6-A4VD-01A-11D-A28R-08	126118286	178952085	19070345	23	1146										
TBC1D1	23216	broad.mit.edu	37	chr4	38138875	38138875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cggtcggccctgctgcagacGgtggaggagctgcggcggcg	20	12	0	1	rs375379532		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr4:38138875G>A	ENST00000261439.4	+	20	3781	c.3426G>A	c.(3424-3426)acG>acA	p.T1142T	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Silent_p.T1133T	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	1142					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						TGCTGCAGACGGTGGAGGAGC	0.642													G|||	1	0.000199681	8e-04	0	5008	,	,		15446	0		0	False		,,,				2504	0					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.(3424-3426)acG>acA		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1		G		1,4403	2.1+/-5.4	0,1,2201	31	36	34		3426	-2.6	0	4		34	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TBC1D1	NM_015173.2		0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154		1142/1169	38138875	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38138875G>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.3426G>A	4.37:g.38138875G>A			Somatic				TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Silent_p.T1133T	p.T1142T	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			20	3781	+			1142					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.3426G>A	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	G	0.992	-0.693597	0.03303	2.27E-4	1.16E-4	ENSG00000065882	ENST00000510573	.	.	.	5.16	-2.62	0.06152	.	.	.	.	.	T	0.20577	0.0495	.	.	.	0.26265	N	0.978517	.	.	.	.	.	.	T	0.28332	-1.0047	4	.	.	.	-0.0394	3.4262	0.07412	0.2121:0.4531:0.1507:0.1841	.	.	.	.	S	830	.	.	G	+	1	0	TBC1D1	37815270	0.566000	0.26618	0.002000	0.10522	0.122000	0.20287	0.029000	0.13666	-0.434000	0.07275	-0.156000	0.13503	GGT		0.642	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		29	27	0	0	0	1	0	29	27					A	38138875	G	A	38138875	2	1	17	1	0	0	0	0	0	0	0	1	15612	1103	39	1		1	TBC1D1	4	38138875	Silent	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08		38138875	153015401	24	1147										
FBXW7	55294	broad.mit.edu	37	chr4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	aaaccctaagagtggcatctCgagaaccgctaacaactctg	8	12	2	2			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		47	Substitution - Missense(46)|Unknown(1)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)	haematopoietic_and_lymphoid_tissue(16)|large_intestine(9)|endometrium(7)|urinary_tract(5)|upper_aerodigestive_tract(4)|lung(4)|stomach(1)|kidney(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1435-1437)cGa>cAa		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							85	80	82					4																	153247366		2203	4299	6502	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247366C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1436G>A	4.37:g.153247366C>T	ENSP00000281708:p.Arg479Gln		Somatic				FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q	p.R479Q	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			10	2665	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	479					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1436G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283775	0.95489	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.72	5.72	0.89469	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	0.50222	0.1603	N	0.12527	0.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.56529	-0.7964	10	0.56958	D	0.05	-12.7081	20.2406	0.98372	0.0:1.0:0.0:0.0	.	303;479;361;399	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	479;361;399;303	ENSP00000281708:R479Q;ENSP00000296555:R361Q;ENSP00000263981:R399Q;ENSP00000377528:R303Q	ENSP00000263981:R399Q	R	-	2	0	FBXW7	153466816	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.715000	0.84713	2.857000	0.98124	0.650000	0.86243	CGA		0.403	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			21	27	0	0	0	1	0	21	27					T	153247366	C	T	153247366	3	4	17	1	0	0	0	0	1	0	0	0	5777	884	31	1	699	1	FBXW7	4	153247366	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	115108491	153247366	37906910	25	1148										
PCDHA2	56146	broad.mit.edu	37	chr5	140176114	140176114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	caaggtgtacgcgctgcagcCgctggaccacgaggaagtgg	16	11	0	0			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:140176114C>T	ENST00000526136.1	+	1	1565	c.1565C>T	c.(1564-1566)cCg>cTg	p.P522L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.P522L|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P522L	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	522	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)			GCGCTGCAGCCGCTGGACCAC	0.687																																						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.(1564-1566)cCg>cTg									58	64	62					5																	140176114		2202	4292	6494	SO:0001583	missense	0							g.chr5:140176114C>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.1565C>T	5.37:g.140176114C>T	ENSP00000431748:p.Pro522Leu		Somatic				PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.P522L|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P522L|PCDHA1_ENST00000504120.2_Intron	p.P522L	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	1565	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1565C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	17.87	3.494154	0.64186	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.56275	0.47;0.47;0.47	3.88	3.88	0.44766	Cadherin (5);Cadherin-like (1);	0.000000	0.39615	U	0.001313	T	0.67221	0.2870	L	0.51853	1.615	0.33889	D	0.637124	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.975;0.996;0.975	T	0.78523	-0.2171	10	0.87932	D	0	.	16.2852	0.82717	0.0:1.0:0.0:0.0	.	522;522;522	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	L	522	ENSP00000430584:P522L;ENSP00000367372:P522L;ENSP00000431748:P522L	ENSP00000367372:P522L	P	+	2	0	PCDHA2	140156298	0.079000	0.21365	1.000000	0.80357	0.997000	0.91878	3.717000	0.54911	1.903000	0.55091	0.644000	0.83932	CCG		0.687	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		149	114	0	0	0	1	0	149	114					T	140176114	C	T	140176114	3	4	17	1	0	0	0	0	1	0	0	0	11533	652	23	1	1567	1	PCDHA2	5	140176114	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08		140176114	40739146	26	1149										
PCDHB5	26167	broad.mit.edu	37	chr5	140515028	140515028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gtctgaacaatggagactgcGctagcaaaaacgccacagaa	10	10	1	3			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:140515028G>A	ENST00000231134.5	+	1	229	c.12G>A	c.(10-12)gcG>gcA	p.A4A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	4					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGAGACTGCGCTAGCAAAAA	0.463																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(10-12)gcG>gcA									91	80	84					5																	140515028		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515028G>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.12G>A	5.37:g.140515028G>A			Somatic					p.A4A	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	229	+			4					Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.12G>A	CCDS4247.1																																																																																				0.463	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		24	57	0	0	0	1	0	24	57					A	140515028	G	A	140515028	2	1	17	1	0	0	0	0	0	0	0	1	11554	1074	38	1		1	PCDHB5	5	140515028	Silent	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	338914	140515028	40400232	27	1150										
PDGFRB	5159	broad.mit.edu	37	chr5	149497300	149497300	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	tgcacggcagtatagaggacGgagctggtgtccaggggaga	18	7	0	2	rs2229559	byFrequency	TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:149497300G>A	ENST00000261799.4	-	22	3487	c.3018C>T	c.(3016-3018)tcC>tcT	p.S1006S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1006					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATAGAGGACGGAGCTGGTGT	0.617			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(3016-3018)tcC>tcT		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						93	93	93					5																	149497300		2203	4300	6503	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149497300G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.3018C>T	5.37:g.149497300G>A			Somatic					p.S1006S	NM_002609.3	NP_002600.1	WXS	Illumina GAIIx	Phase_I	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	3487	-		all_hematologic(541;0.224)	1006					B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.3018C>T	CCDS4303.1																																																																																				0.617	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		24	47	0	0	0	1	0	24	47					A	149497300	G	A	149497300	2	1	17	1	0	0	0	0	0	0	0	1	11671	1103	39	1		1	PDGFRB	5	149497300	Silent	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	8982272	149497300	31417960	28	1151										
STK10	6793	broad.mit.edu	37	chr5	171509417	171509417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cgcctggcctcctcccggcgGcgcacggcatggtcttgctc	13	18	1	0			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:171509417G>A	ENST00000176763.5	-	12	2245	c.1902C>T	c.(1900-1902)cgC>cgT	p.R634R	AC113342.1_ENST00000579783.1_RNA	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	634					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)			CCTCCCGGCGGCGCACGGCAT	0.552																																						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.(1900-1902)cgC>cgT		serine/threonine kinase 10							109	104	106					5																	171509417		2203	4300	6503	SO:0001819	synonymous_variant	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171509417G>A	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.1902C>T	5.37:g.171509417G>A			Somatic					p.R634R	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)		12	2245	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	634					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	ENST00000176763.5	37	c.1902C>T	CCDS34290.1																																																																																				0.552	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		50	104	0	0	0	1	0	50	104					A	171509417	G	A	171509417	2	1	17	1	0	0	0	0	0	0	0	1	15301	1190	42	3		3	STK10	5	171509417	Silent	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	22012117	171509417	9405843	29	1152										
PRL	5617	broad.mit.edu	37	chr6	22290511	22290511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	tcttgcataccacgtacttcCgtgaccagatgatacagagg	9	11	1	4	rs376254080		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:22290511C>T	ENST00000306482.1	-	4	902	c.384G>A	c.(382-384)acG>acA	p.T128T	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	128					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CACGTACTTCCGTGACCAGAT	0.463																																						ENST00000306482.1																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16						c.(382-384)acG>acA		prolactin		C	,	1,4405	2.1+/-5.4	0,1,2202	120	111	114		384,384	-11.7	0	6		114	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PRL	NM_000948.5,NM_001163558.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	128/228,128/228	22290511	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22290511C>T	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.384G>A	6.37:g.22290511C>T			Somatic				RP3-404K8.2_ENST00000561912.1_RNA	p.T128T	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	WXS	Illumina GAIIx	Phase_I	P01236	PRL_HUMAN			4	902	-	Ovarian(93;0.163)		128					Q15199|Q92996	Silent	SNP	ENST00000306482.1	37	c.384G>A	CCDS4548.1																																																																																				0.463	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		29	40	0	0	0	1	0	29	40					T	22290511	C	T	22290511	2	4	17	1	0	0	0	0	0	0	0	1	12540	639	23	1		1	PRL	6	22290511	Silent	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08		22290511	148824556	30	1153										
HIST1H2AL	8332	broad.mit.edu	37	chr6	27833147	27833147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ttcgtcatgtcgggacgcggCaagcagggaggcaaagctcg	16	10	1	0			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:27833147C>T	ENST00000357320.2	+	1	114	c.15C>T	c.(13-15)ggC>ggT	p.G5G		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	5						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CGGGACGCGGCAAGCAGGGAG	0.587																																						ENST00000357320.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						c.(13-15)ggC>ggT		histone cluster 1, H2al							83	93	89					6																	27833147		2203	4300	6503	SO:0001819	synonymous_variant	8332				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27833147C>T	X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"Histones / Replication-dependent"	4730	protein-coding gene	gene with protein product		602793	"H2A histone family, member I", "histone 1, H2al"	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.15C>T	6.37:g.27833147C>T			Somatic					p.G5G	NM_003511.2	NP_003502.1	WXS	Illumina GAIIx	Phase_I	P0C0S8	H2A1_HUMAN			1	114	+			5					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000357320.2	37	c.15C>T	CCDS4634.1																																																																																				0.587	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040160.1	NM_003511		45	76	0	0	0	1	0	45	76					T	27833147	C	T	27833147	2	4	17	1	0	0	0	0	0	0	0	1	7147	697	25	3		3	HIST1H2AL	6	27833147	Silent	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	5542636	27833147	143281920	31	1154										
GSTA3	2940	broad.mit.edu	37	chr6	52762720	52762720	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cagcccggctcagcttgttgCcaacaaggtagtcttgtcca	10	13	2	0			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:52762720C>A	ENST00000211122.3	-	6	514	c.449G>T	c.(448-450)gGc>gTc	p.G150V	GSTA3_ENST00000370968.1_Missense_Mutation_p.G100V	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	150	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)	CAGCTTGTTGCCAACAAGGTA	0.517																																						ENST00000211122.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10						c.(448-450)gGc>gTc		glutathione S-transferase alpha 3	Glutathione(DB00143)						167	144	152					6																	52762720		2203	4300	6503	SO:0001583	missense	2940				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52762720C>A	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.449G>T	6.37:g.52762720C>A	ENSP00000211122:p.Gly150Val		Somatic				GSTA3_ENST00000370968.1_Missense_Mutation_p.G100V	p.G150V	NM_000847.4	NP_000838.3	WXS	Illumina GAIIx	Phase_I	Q16772	GSTA3_HUMAN			6	514	-	Lung NSC(77;0.0912)		150			GST C-terminal.		O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	ENST00000211122.3	37	c.449G>T	CCDS4947.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888887	0.72524	.	.	ENSG00000174156	ENST00000370968;ENST00000211122	T;T	0.54071	0.59;0.59	3.91	3.91	0.45181	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75561	0.3866	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83507	0.0078	10	0.87932	D	0	.	16.0341	0.80608	0.0:1.0:0.0:0.0	.	150	Q16772	GSTA3_HUMAN	V	100;150	ENSP00000360007:G100V;ENSP00000211122:G150V	ENSP00000211122:G150V	G	-	2	0	GSTA3	52870679	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	5.136000	0.64783	2.176000	0.68965	0.655000	0.94253	GGC		0.517	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1			58	66	1	0	1.13205e-32	1	1.21438e-32	58	66					A	52762720	C	A	52762720	3	1	17	1	0	0	0	0	1	0	0	0	6841	739	26	5	227	5	GSTA3	6	52762720	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	24929573	52762720	118352347	32	1155										
C6orf174	387104	broad.mit.edu	37	chr6	127836020	127836021	+	Frame_Shift_Del	DEL	TG	TG	-													0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ccccgtcgatttccccggtcTgggcgtagcggagccttttg							TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:127836020_127836021delTG	ENST00000525778.1	-	3	2018_2019	c.1273_1274delCA	c.(1273-1275)cagfs	p.Q425fs	SOGA3_ENST00000556132.1_Frame_Shift_Del_p.Q425fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.Q425fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.Q425fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.Q425fs			Q5TF21	SOGA3_HUMAN	SOGA family member 3	425					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TTCCCCGGTCTGGGCGTAGCGG	0.663																																						ENST00000556132.1																			0											c.(1273-1275)gfs		SOGA family member 3																																				SO:0001589	frameshift_variant	387104					integral to membrane		g.chr6:127836020_127836021delTG	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.1273_1274delCA	6.37:g.127836020_127836021delTG	ENSP00000434570:p.Gln425fs		Somatic				SOGA3_ENST00000481848.2_Frame_Shift_Del_p.Q425fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.Q425fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.Q425fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.Q425fs	p.Q425fs	NM_001012279.2	NP_001012279.1	WXS	Illumina GAIIx	Phase_I	Q5TF21	CF174_HUMAN			3	2137_2138	-			425						Frame_Shift_Del	DEL	ENST00000525778.1	37	c.1273_1274delCA	CCDS43505.1																																																																																				0.663	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		30	52						30	52	---	---	---	---	-	127836021	TG	-	127836020	7	5	17	1	0	1	0	1	0	0	0	0	2347	1580	55	0	1589	0	C6orf174	6	127836020	Frame_Shift_Del	DEL	TG	TCGA-N6-A4VD-01A-11D-A28R-08	75073300	127836020	43279047	33	1156										
CCR6	1235	broad.mit.edu	37	chr6	167550589	167550589	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	tgaaccgatcctgccagagcGaaaagctaattggctatacg	10	10	0	2	rs545727839		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:167550589G>A	ENST00000341935.5	+	3	1423	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	CCR6_ENST00000349984.4_Missense_Mutation_p.E291K|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Missense_Mutation_p.E291K	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	291					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CTGCCAGAGCGAAAAGCTAAT	0.483													G|||	1	0.000199681	8e-04	0	5008	,	,		21932	0		0	False		,,,				2504	0					ENST00000341935.5																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14						c.(871-873)Gaa>Aaa		chemokine (C-C motif) receptor 6							140	135	137					6																	167550589		2203	4300	6503	SO:0001583	missense	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167550589G>A	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.871G>A	6.37:g.167550589G>A	ENSP00000343952:p.Glu291Lys		Somatic				CCR6_ENST00000349984.4_Missense_Mutation_p.E291K|CCR6_ENST00000400926.2_Missense_Mutation_p.E291K	p.E291K	NM_031409.3	NP_113597.2	WXS	Illumina GAIIx	Phase_I	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	3	1423	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	291					E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	c.871G>A	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	G	7.748	0.702646	0.15172	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.36878	1.23;1.23;1.23	4.79	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.549678	0.16424	U	0.215042	T	0.18130	0.0435	L	0.52905	1.665	0.09310	N	1	P	0.39480	0.675	B	0.36808	0.233	T	0.02942	-1.1091	10	0.49607	T	0.09	.	14.095	0.65016	0.0:0.4379:0.5621:0.0	.	291	P51684	CCR6_HUMAN	K	291	ENSP00000383715:E291K;ENSP00000343952:E291K;ENSP00000339393:E291K	ENSP00000343952:E291K	E	+	1	0	CCR6	167470579	0.941000	0.31946	0.001000	0.08648	0.004000	0.04260	1.835000	0.39181	0.502000	0.28037	0.655000	0.94253	GAA		0.483	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			35	66	0	0	0	1	0	35	66					A	167550589	G	A	167550589	3	1	17	1	0	0	0	0	1	0	0	0	2947	1059	37	1	877	1	CCR6	6	167550589	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	39714569	167550589	3564478	34	1157										
CHST12	55501	broad.mit.edu	37	chr7	2473140	2473140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cagcctgcccgcctcggcgcGcgaggccttccgcgctggcc	14	20	0	0			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:2473140G>A	ENST00000258711.6	+	2	1001	c.866G>A	c.(865-867)cGc>cAc	p.R289H		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	289					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)		GCCTCGGCGCGCGAGGCCTTC	0.652																																						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.(865-867)cGc>cAc		carbohydrate (chondroitin 4) sulfotransferase 12							43	45	44					7																	2473140		2202	4295	6497	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2473140G>A	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.866G>A	7.37:g.2473140G>A	ENSP00000258711:p.Arg289His		Somatic					p.R289H	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	1001	+		Ovarian(82;0.0253)	289					A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.866G>A	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	G	9.812	1.183472	0.21870	.	.	ENSG00000136213	ENST00000258711	T	0.74106	-0.81	5.27	4.38	0.52667	.	1.737820	0.03407	N	0.204206	T	0.66626	0.2808	L	0.32530	0.975	0.23673	N	0.997141	P	0.34615	0.459	B	0.19666	0.026	T	0.57825	-0.7744	10	0.48119	T	0.1	-6.0021	13.4009	0.60883	0.0759:0.0:0.9241:0.0	.	289	Q9NRB3	CHSTC_HUMAN	H	289	ENSP00000258711:R289H	ENSP00000258711:R289H	R	+	2	0	CHST12	2439666	0.995000	0.38212	0.794000	0.32065	0.913000	0.54294	2.682000	0.46934	1.221000	0.43506	0.462000	0.41574	CGC		0.652	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		35	35	0	0	0	1	0	35	35					A	2473140	G	A	2473140	3	1	17	1	0	0	0	0	1	0	0	0	3402	1087	38	1	868	1	CHST12	7	2473140	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08		2473140	156665523	35	1158										
HERPUD2	64224	broad.mit.edu	37	chr7	35674870	35674870	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cagtctagccagtctcgattGaagtcttcttcatttagtac	7	10	5	1			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:35674870G>T	ENST00000396081.1	-	6	1620	c.816C>A	c.(814-816)ttC>ttA	p.F272L	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Missense_Mutation_p.F272L	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	272					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						AGTCTCGATTGAAGTCTTCTT	0.438																																						ENST00000396081.1																			0				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						c.(814-816)ttC>ttA		HERPUD family member 2							208	199	202					7																	35674870		2203	4300	6503	SO:0001583	missense	64224				response to unfolded protein	integral to membrane		g.chr7:35674870G>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.816C>A	7.37:g.35674870G>T	ENSP00000379390:p.Phe272Leu		Somatic				HERPUD2_ENST00000311350.3_Missense_Mutation_p.F272L|HERPUD2_ENST00000426180.1_5'UTR	p.F272L	NM_022373.4	NP_071768.3	WXS	Illumina GAIIx	Phase_I	Q9BSE4	HERP2_HUMAN			6	1620	-			272					A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	c.816C>A	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	G	7.627	0.677990	0.14841	.	.	ENSG00000122557	ENST00000396081;ENST00000311350	T;T	0.17054	2.3;2.3	5.96	1.94	0.25998	.	0.412677	0.29956	N	0.010764	T	0.06690	0.0171	N	0.05124	-0.11	0.27834	N	0.941359	B	0.02656	0.0	B	0.01281	0.0	T	0.39623	-0.9605	10	0.08381	T	0.77	-15.7427	9.9564	0.41668	0.1334:0.3788:0.4878:0.0	.	272	Q9BSE4	HERP2_HUMAN	L	272	ENSP00000379390:F272L;ENSP00000310729:F272L	ENSP00000310729:F272L	F	-	3	2	HERPUD2	35641395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.995000	0.29706	0.384000	0.24942	0.655000	0.94253	TTC		0.438	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		37	46	1	0	3.62531e-18	1	3.85393e-18	37	46					T	35674870	G	T	35674870	3	4	17	1	0	0	0	0	1	0	0	0	7073	1281	45	2	416	2	HERPUD2	7	35674870	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	33201730	35674870	123463793	36	1159										
CD36	948	broad.mit.edu	37	chr7	80290415	80290415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	aaggaaaatgtaacccaggaCgctgaggacaacacagtctc	10	10	1	1	rs146796766		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:80290415C>T	ENST00000435819.1	+	8	1002	c.318C>T	c.(316-318)gaC>gaT	p.D106D	CD36_ENST00000538969.1_Silent_p.D106D|CD36_ENST00000447544.2_Silent_p.D106D|CD36_ENST00000433696.2_Silent_p.D106D|CD36_ENST00000544133.1_Silent_p.D106D|CD36_ENST00000394788.3_Silent_p.D106D|CD36_ENST00000534394.1_Silent_p.D30D|CD36_ENST00000432207.1_Silent_p.D106D|CD36_ENST00000309881.7_Silent_p.D106D			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	106	Required for interaction with thrombospondins, THBS1 and THBS2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TAACCCAGGACGCTGAGGACA	0.408																																						ENST00000435819.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						c.(316-318)gaC>gaT		CD36 molecule (thrombospondin receptor)		C	,,,,	0,4406		0,0,2203	130	115	120		318,318,318,318,318	2.4	0.1	7	dbSNP_134	120	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CD36	NM_000072.3,NM_001001547.2,NM_001001548.2,NM_001127443.1,NM_001127444.1	,,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,	106/473,106/473,106/473,106/473,106/473	80290415	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80290415C>T	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"CD molecules"	1663	protein-coding gene	gene with protein product		173510	"CD36 antigen (collagen type I receptor, thrombospondin receptor)"			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.318C>T	7.37:g.80290415C>T			Somatic				CD36_ENST00000447544.2_Silent_p.D106D|CD36_ENST00000394788.3_Silent_p.D106D|CD36_ENST00000309881.7_Silent_p.D106D|CD36_ENST00000534394.1_Silent_p.D30D|CD36_ENST00000432207.1_Silent_p.D106D|CD36_ENST00000538969.1_Silent_p.D106D|CD36_ENST00000544133.1_Silent_p.D106D|CD36_ENST00000433696.2_Silent_p.D106D	p.D106D			WXS	Illumina GAIIx	Phase_I	P16671	CD36_HUMAN			8	1002	+			106			Required for interaction with thrombospondins, THBS1 and THBS2.		D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Silent	SNP	ENST00000435819.1	37	c.318C>T	CCDS34673.1																																																																																				0.408	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		18	43	0	0	0	1	0	18	43					T	80290415	C	T	80290415	2	4	17	1	0	0	0	0	0	0	0	1	3009	535	19	1		1	CD36	7	80290415	Silent	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	44615545	80290415	78848248	37	1160										
KIAA1324L	222223	broad.mit.edu	37	chr7	86542401	86542401	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cctggagggcaggggacacaCgatgaacccgactgttcaga	14	11	1	2	rs369087183		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:86542401C>T	ENST00000450689.2	-	14	2036	c.1851G>A	c.(1849-1851)tcG>tcA	p.S617S	KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000297222.6_Silent_p.S377S|KIAA1324L_ENST00000444627.1_Intron|KIAA1324L_ENST00000416314.1_Silent_p.S450S	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	617						integral component of membrane (GO:0016021)		p.S377S(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)					AGGGGACACACGATGAACCCG	0.522																																						ENST00000450689.2																			1	Substitution - coding silent(1)	p.S377S(1)	large_intestine(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.(1849-1851)tcG>tcA		KIAA1324-like		C	,	1,4405	2.1+/-5.4	0,1,2202	157	130	139		1851,1350	0.5	1	7		139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KIAA1324L	NM_001142749.2,NM_152748.3	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	617/1030,450/863	86542401	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	222223					integral to membrane		g.chr7:86542401C>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.1851G>A	7.37:g.86542401C>T			Somatic				KIAA1324L_ENST00000297222.6_Silent_p.S377S|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000444627.1_Intron|KIAA1324L_ENST00000416314.1_Silent_p.S450S	p.S617S	NM_001142749.2	NP_001136221.1	WXS	Illumina GAIIx	Phase_I	A8MWY0	K132L_HUMAN			14	2036	-	Esophageal squamous(14;0.0058)		617					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Silent	SNP	ENST00000450689.2	37	c.1851G>A	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	C	9.993	1.231426	0.22626	2.27E-4	1.16E-4	ENSG00000164659	ENST00000423294	.	.	.	5.82	0.506	0.16961	.	.	.	.	.	T	0.43144	0.1234	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25676	-1.0125	4	.	.	.	.	2.5706	0.04794	0.1114:0.4305:0.2392:0.2188	.	.	.	.	M	578	.	.	V	-	1	0	KIAA1324L	86380337	0.902000	0.30710	1.000000	0.80357	0.972000	0.66771	-0.060000	0.11712	0.360000	0.24265	-0.878000	0.02970	GTG		0.522	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		14	25	0	0	0	1	0	14	25					T	86542401	C	T	86542401	2	4	17	1	0	0	0	0	0	0	0	1	8233	523	19	1		1	KIAA1324L	7	86542401	Silent	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	6251986	86542401	72596262	38	1161										
CALCR	799	broad.mit.edu	37	chr7	93065414	93065414	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ttcaggtacatgtgggattcCgcctcatgggtttccctcat	10	11	3	0	rs545295161		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:93065414C>T	ENST00000394441.1	-	11	1314	c.999G>A	c.(997-999)gcG>gcA	p.A333A	CALCR_ENST00000426151.1_Silent_p.A333A|CALCR_ENST00000359558.2_Silent_p.A367A|CALCR_ENST00000421592.1_Silent_p.A349A|CALCR_ENST00000360249.4_Silent_p.A349A	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	367					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)	TGTGGGATTCCGCCTCATGGG	0.478													C|||	1	0.000199681	0	0	5008	,	,		14066	0		0	False		,,,				2504	0.001					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.(1099-1101)gcG>gcA		calcitonin receptor	Salmon Calcitonin(DB00017)						101	88	92					7																	93065414		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.chr7:93065414C>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.999G>A	7.37:g.93065414C>T			Somatic				CALCR_ENST00000394441.1_Silent_p.A333A|CALCR_ENST00000421592.1_Silent_p.A349A|CALCR_ENST00000426151.1_Silent_p.A333A|CALCR_ENST00000360249.4_Silent_p.A349A	p.A367A	NM_001164737.1	NP_001158209.1	WXS	Illumina GAIIx	Phase_I	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		14	1400	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		349					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	c.1101G>A	CCDS5631.1																																																																																				0.478	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		12	23	0	0	0	1	0	12	23					T	93065414	C	T	93065414	2	4	17	1	0	0	0	0	0	0	0	1	2581	639	23	1		1	CALCR	7	93065414	Silent	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	6523013	93065414	66073249	39	1162										
ZNF655	79027	broad.mit.edu	37	chr7	99171161	99171161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	aaagaactccagtcagagagCacatctagttcaacatcaga	7	10	4	3			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:99171161C>T	ENST00000394163.2	+	3	1613	c.1430C>T	c.(1429-1431)gCa>gTa	p.A477V	ZNF655_ENST00000493277.1_Missense_Mutation_p.A512V|GS1-259H13.10_ENST00000486324.1_Intron|GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000252713.4_Missense_Mutation_p.A477V|ZNF655_ENST00000424881.1_Missense_Mutation_p.A512V|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	477					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AGTCAGAGAGCACATCTAGTT	0.393																																						ENST00000424881.1																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16						c.(1534-1536)gCa>gTa		zinc finger protein 655							99	99	99					7																	99171161		2203	4300	6503	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99171161C>T	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"Zinc fingers, C2H2-type", "-"	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.1430C>T	7.37:g.99171161C>T	ENSP00000377718:p.Ala477Val		Somatic				ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.A477V|ZNF655_ENST00000252713.4_Missense_Mutation_p.A477V|ZNF655_ENST00000493277.1_Missense_Mutation_p.A512V	p.A512V	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	WXS	Illumina GAIIx	Phase_I	Q8N720	ZN655_HUMAN			4	1755	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		477					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.1535C>T	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	C	6.690	0.496013	0.12762	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.178426	0.27262	N	0.020162	T	0.24005	0.0581	L	0.28400	0.85	0.19775	N	0.999959	P;P	0.38504	0.634;0.501	B;B	0.33620	0.167;0.081	T	0.22417	-1.0217	10	0.54805	T	0.06	-1.3926	16.4515	0.83993	0.0:1.0:0.0:0.0	.	512;477	Q8N720-3;Q8N720	.;ZN655_HUMAN	V	477;512;512;477	ENSP00000252713:A477V;ENSP00000419135:A512V;ENSP00000393876:A512V;ENSP00000377718:A477V	ENSP00000252713:A477V	A	+	2	0	ZNF655	99009097	0.000000	0.05858	0.942000	0.38095	0.161000	0.22273	1.071000	0.30666	2.660000	0.90430	0.655000	0.94253	GCA		0.393	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		34	50	0	0	0	1	0	34	50					T	99171161	C	T	99171161	3	4	17	1	0	0	0	0	1	0	0	0	18083	710	25	3	1967	3	ZNF655	7	99171161	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	6105747	99171161	59967502	40	1163										
FBXO24	26261	broad.mit.edu	37	chr7	100187923	100187923	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	tctgtcgcagactcagtccgCgcctccaagatcagggttct	10	14	4	2	rs563719782		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:100187923C>T	ENST00000241071.6	+	3	587	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	FBXO24_ENST00000360609.2_Missense_Mutation_p.R89C|FBXO24_ENST00000468962.1_Missense_Mutation_p.R77C|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000427939.2_Missense_Mutation_p.R127C|FBXO24_ENST00000465843.1_Missense_Mutation_p.R89C|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	89					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)					ACTCAGTCCGCGCCTCCAAGA	0.602													C|||	1	0.000199681	0	0.0014	5008	,	,		17432	0		0	False		,,,				2504	0					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.(265-267)Cgc>Tgc		F-box protein 24							68	57	61					7																	100187923		2203	4300	6503	SO:0001583	missense	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100187923C>T	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.265C>T	7.37:g.100187923C>T	ENSP00000241071:p.Arg89Cys		Somatic				FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000427939.2_Missense_Mutation_p.R127C|FBXO24_ENST00000468962.1_Missense_Mutation_p.R77C|FBXO24_ENST00000465843.1_Missense_Mutation_p.R89C|FBXO24_ENST00000360609.2_Missense_Mutation_p.R89C|PCOLCE-AS1_ENST00000442166.2_RNA	p.R89C	NM_033506.2	NP_277041.1	WXS	Illumina GAIIx	Phase_I	O75426	FBX24_HUMAN			3	587	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		89					A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	ENST00000241071.6	37	c.265C>T	CCDS5698.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528809	0.64860	.	.	ENSG00000106336	ENST00000461079;ENST00000241071;ENST00000360609;ENST00000465843;ENST00000466053;ENST00000468962;ENST00000427939	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	4.69	3.76	0.43208	F-box domain, Skp2-like (1);	0.096272	0.39615	N	0.001301	T	0.44244	0.1284	N	0.08118	0	0.49051	D	0.999745	D;D;D;D	0.76494	0.996;0.995;0.995;0.999	P;P;P;P	0.56916	0.65;0.549;0.549;0.809	T	0.50841	-0.8780	10	0.87932	D	0	-14.348	10.184	0.42986	0.1974:0.8026:0.0:0.0	.	77;127;89;89	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	C	112;89;89;89;94;77;127	ENSP00000419587:R112C;ENSP00000241071:R89C;ENSP00000353821:R89C;ENSP00000419602:R89C;ENSP00000417179:R94C;ENSP00000420239:R77C;ENSP00000416558:R127C	ENSP00000241071:R89C	R	+	1	0	FBXO24	100025859	0.053000	0.20554	0.830000	0.32933	0.721000	0.41392	0.954000	0.29175	2.439000	0.82584	0.555000	0.69702	CGC		0.602	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			22	22	0	0	0	1	0	22	22					T	100187923	C	T	100187923	3	4	17	1	0	0	0	0	1	0	0	0	5743	768	27	1	432	1	FBXO24	7	100187923	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	1016762	100187923	58950740	41	1164										
EXOC4	60412	broad.mit.edu	37	chr7	133692545	133692545	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ttgttcttcagcagaatttgAccaacatcaccatgtcgcgg	8	11	3	2			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:133692545A>G	ENST00000253861.4	+	17	2673	c.2644A>G	c.(2644-2646)Acc>Gcc	p.T882A	EXOC4_ENST00000539845.1_Missense_Mutation_p.T781A|EXOC4_ENST00000545148.1_Missense_Mutation_p.T492A|EXOC4_ENST00000541309.1_Missense_Mutation_p.T170A	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	882					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)				GCAGAATTTGACCAACATCAC	0.473																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(2644-2646)Acc>Gcc		exocyst complex component 4							77	67	70					7																	133692545		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133692545A>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.2644A>G	7.37:g.133692545A>G	ENSP00000253861:p.Thr882Ala		Somatic				EXOC4_ENST00000541309.1_Missense_Mutation_p.T170A|EXOC4_ENST00000545148.1_Missense_Mutation_p.T492A|EXOC4_ENST00000539845.1_Missense_Mutation_p.T781A	p.T882A	NM_021807.3	NP_068579.3	WXS	Illumina GAIIx	Phase_I	Q96A65	EXOC4_HUMAN			17	2673	+		Esophageal squamous(399;0.129)	882					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.2644A>G	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.798747	0.70567	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	L	0.58428	1.81	0.80722	D	1	B;B;P	0.48089	0.05;0.395;0.905	B;B;B	0.39152	0.029;0.167;0.292	T	0.45264	-0.9273	9	0.18276	T	0.48	.	14.7083	0.69208	1.0:0.0:0.0:0.0	.	414;492;882	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	A	882;501;781;492;170	.	ENSP00000253861:T882A	T	+	1	0	EXOC4	133343085	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.639000	0.74314	2.078000	0.62432	0.482000	0.46254	ACC		0.473	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		14	26	0	0	0	1	0	14	26					G	133692545	A	G	133692545	3	3	17	1	0	0	0	0	1	0	0	0	5308	275	10	4	2719	4	EXOC4	7	133692545	Missense_Mutation	SNP	A	TCGA-N6-A4VD-01A-11D-A28R-08	33504622	133692545	25446118	42	1165										
RP1L1	94137	broad.mit.edu	37	chr8	10467031	10467031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gggccaggaaggccttctccGtcttcttcagtaacacggac	11	13	4	0	rs267601688	byFrequency	TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:10467031G>A	ENST00000382483.3	-	4	4800	c.4577C>T	c.(4576-4578)aCg>aTg	p.T1526M		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1606					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)		GGCCTTCTCCGTCTTCTTCAG	0.662													G|||	5	0.000998403	0	0	5008	,	,		17783	0		0	False		,,,				2504	0.0051					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.(4576-4578)aCg>aTg		retinitis pigmentosa 1-like 1		G	MET/THR	3,4181		0,3,2089	36	41	40		4577	1.7	0.8	8		40	0,8438		0,0,4219	no	missense	RP1L1	NM_178857.5	81	0,3,6308	AA,AG,GG		0.0,0.0717,0.0238	benign	1526/2401	10467031	3,12619	2092	4219	6311	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467031G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4577C>T	8.37:g.10467031G>A	ENSP00000371923:p.Thr1526Met		Somatic					p.T1526M	NM_178857.5	NP_849188.4	WXS	Illumina GAIIx	Phase_I	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	4800	-			1526					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.4577C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	1.839	-0.467899	0.04476	7.17E-4	0.0	ENSG00000183638	ENST00000382483	T	0.03772	3.81	5.32	1.67	0.24075	.	0.715988	0.11578	N	0.549982	T	0.02304	0.0071	N	0.02916	-0.46	0.21064	N	0.999793	B	0.10296	0.003	B	0.04013	0.001	T	0.46925	-0.9156	10	0.33940	T	0.23	-3.1209	8.4047	0.32608	0.7702:0.0:0.2298:0.0	.	1526	A6NKC6	.	M	1526	ENSP00000371923:T1526M	ENSP00000371923:T1526M	T	-	2	0	RP1L1	10504441	0.997000	0.39634	0.798000	0.32154	0.085000	0.17905	3.274000	0.51631	0.342000	0.23796	-1.564000	0.00881	ACG		0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			29	42	0	0	0	1	0	29	42					A	10467031	G	A	10467031	3	1	17	1	0	0	0	0	1	0	0	0	13548	1145	40	1	2629	1	RP1L1	8	10467031	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08		10467031	135896991	43	1166										
NRG1	3084	broad.mit.edu	37	chr8	32505335	32505335	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ccatctcttgatgggcttccGgcagcagaagacatgccaga	11	12	1	4			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:32505335G>A	ENST00000405005.3	+	5	502				NRG1_ENST00000521670.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000520502.2_Silent_p.P33P|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000356819.4_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ATGGGCTTCCGGCAGCAGAAG	0.622																																						ENST00000520502.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(97-99)ccG>ccA		neuregulin 1							38	37	37					8																	32505335		2203	4300	6503	SO:0001627	intron_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32505335G>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+30932G>A	8.37:g.32505335G>A			Somatic				NRG1_ENST00000523079.1_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000341377.5_Intron	p.P33P	NM_013959.3	NP_039253.1	WXS	Illumina GAIIx	Phase_I	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	1	99	+		Breast(100;0.203)	0					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	ENST00000405005.3	37	c.99G>A	CCDS6085.1																																																																																				0.622	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			18	34	0	0	0	1	0	18	34					A	32505335	G	A	32505335	1	1	17	0	1	0	0	0	0	0	0	0	10656	1103	39	1		1	NRG1	8	32505335	Intron	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	22038304	32505335	113858687	44	1167										
PLEKHA2	59339	broad.mit.edu	37	chr8	38775463	38775463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	caggaatgccttatgtggatCggcagaaccgaatctgtggg	14	8	1	1	rs569997545		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:38775463C>T	ENST00000521746.1	+	2	250	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	PLEKHA2_ENST00000420274.1_Missense_Mutation_p.R6W|PLEKHA2_ENST00000388745.4_3'UTR			Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	6					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)			TTATGTGGATCGGCAGAACCG	0.562													C|||	1	0.000199681	0	0	5008	,	,		21029	0		0	False		,,,				2504	0.001					ENST00000420274.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13						c.(16-18)Cgg>Tgg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2							104	105	105					8																	38775463		2056	4210	6266	SO:0001583	missense	59339				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding	g.chr8:38775463C>T	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.16C>T	8.37:g.38775463C>T	ENSP00000430938:p.Arg6Trp		Somatic				PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000521746.1_Missense_Mutation_p.R6W	p.R6W	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)		2	250	+		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	6						Missense_Mutation	SNP	ENST00000521746.1	37	c.16C>T		.	.	.	.	.	.	.	.	.	.	C	25.9	4.685881	0.88639	.	.	ENSG00000169499	ENST00000521746;ENST00000420274;ENST00000519640	T;T	0.50548	0.74;3.27	5.37	4.46	0.54185	.	0.000000	0.64402	D	0.000001	T	0.67646	0.2915	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72137	-0.4381	10	0.87932	D	0	.	15.063	0.71970	0.1433:0.8567:0.0:0.0	.	6	A8K727	.	W	6	ENSP00000430938:R6W;ENSP00000393860:R6W	ENSP00000393860:R6W	R	+	1	2	PLEKHA2	38894620	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.823000	0.69272	1.203000	0.43233	0.632000	0.83419	CGG		0.562	PLEKHA2-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000377068.1	NM_021623		24	25	0	0	0	1	0	24	25					T	38775463	C	T	38775463	3	4	17	1	0	0	0	0	1	0	0	0	12065	875	31	1	18	1	PLEKHA2	8	38775463	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	6270128	38775463	107588559	45	1168										
ZFHX4	79776	broad.mit.edu	37	chr8	77766792	77766792	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	atatttgaccccaacaatccGctgatgactggacaactgct	7	12	0	3			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:77766792G>A	ENST00000521891.2	+	10	8083	c.7635G>A	c.(7633-7635)ccG>ccA	p.P2545P	ZFHX4_ENST00000518282.1_Silent_p.P2519P|ZFHX4_ENST00000050961.6_Silent_p.P2500P|ZFHX4_ENST00000455469.2_Silent_p.P2500P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2500					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.P2529P(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)			CCAACAATCCGCTGATGACTG	0.537										HNSCC(33;0.089)																												ENST00000521891.2																			1	Substitution - coding silent(1)	p.P2529P(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.(7633-7635)ccG>ccA		zinc finger homeobox 4							113	111	112					8																	77766792		1974	4152	6126	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766792G>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.7635G>A	8.37:g.77766792G>A		HNSCC(33;0.089)	Somatic				ZFHX4_ENST00000050961.6_Silent_p.P2500P|ZFHX4_ENST00000455469.2_Silent_p.P2500P|ZFHX4_ENST00000518282.1_Silent_p.P2519P	p.P2545P	NM_024721.4	NP_078997.4	WXS	Illumina GAIIx	Phase_I	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8083	+			2500					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7635G>A	CCDS47878.2																																																																																				0.537	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		46	84	0	0	0	1	0	46	84					A	77766792	G	A	77766792	2	1	17	1	0	0	0	0	0	0	0	1	17650	1074	38	1		1	ZFHX4	8	77766792	Silent	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	38991329	77766792	68597230	46	1169										
KCNS2	3788	broad.mit.edu	37	chr8	99441462	99441462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	agttctcccacttttaccggCgccaaaagcaacttgagagt	8	12	1	1			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:99441462C>T	ENST00000287042.4	+	2	1605	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	KCNS2_ENST00000521839.1_Missense_Mutation_p.R419C	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	419					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R419C(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTTTTACCGGCGCCAAAAGCA	0.512																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			1	Substitution - Missense(1)	p.R419C(1)	breast(1)	autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(1255-1257)Cgc>Tgc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							117	116	116					8																	99441462		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99441462C>T	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.1255C>T	8.37:g.99441462C>T	ENSP00000287042:p.Arg419Cys		Somatic				KCNS2_ENST00000521839.1_Missense_Mutation_p.R419C	p.R419C	NM_020697.2	NP_065748.1	WXS	Illumina GAIIx	Phase_I	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	1605	+	Breast(36;2.4e-06)		419					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.1255C>T	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207281	0.39003	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.96967	-4.19;-4.19	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.95655	0.8587	L	0.42245	1.32	0.54753	D	0.999982	D	0.76494	0.999	P	0.48677	0.586	D	0.95816	0.8845	10	0.87932	D	0	.	18.8245	0.92111	0.0:1.0:0.0:0.0	.	419	Q9ULS6	KCNS2_HUMAN	C	419	ENSP00000287042:R419C;ENSP00000430712:R419C	ENSP00000287042:R419C	R	+	1	0	KCNS2	99510638	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.061000	0.57485	2.884000	0.98904	0.655000	0.94253	CGC		0.512	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		47	101	0	0	0	1	0	47	101					T	99441462	C	T	99441462	3	4	17	1	0	0	0	0	1	0	0	0	8098	768	27	1	1257	1	KCNS2	8	99441462	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	21674670	99441462	46922560	47	1170										
CSMD3	114788	broad.mit.edu	37	chr8	113254010	113254010	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	tctttcaccaatattttagaAccagctatgaaaagaaataa	4	7	2	3			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:113254010A>G	ENST00000297405.5	-	66	10651	c.10407T>C	c.(10405-10407)ggT>ggC	p.G3469G	CSMD3_ENST00000352409.3_Silent_p.G3399G|CSMD3_ENST00000343508.3_Silent_p.G3429G|CSMD3_ENST00000455883.2_Silent_p.G3300G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3469						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						ATATTTTAGAACCAGCTATGA	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.(10405-10407)ggT>ggC		CUB and Sushi multiple domains 3							105	113	110					8																	113254010		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113254010A>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.10407T>C	8.37:g.113254010A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000343508.3_Silent_p.G3429G|CSMD3_ENST00000352409.3_Silent_p.G3399G|CSMD3_ENST00000455883.2_Silent_p.G3300G	p.G3469G	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			66	10651	-			3469					Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.10407T>C	CCDS6315.1																																																																																				0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		26	47	0	0	0	1	0	26	47					G	113254010	A	G	113254010	2	3	17	1	0	0	0	0	0	0	0	1	3948	30	2	4		4	CSMD3	8	113254010	Silent	SNP	A	TCGA-N6-A4VD-01A-11D-A28R-08	13812548	113254010	33110012	48	1171										
SLC28A3	64078	broad.mit.edu	37	chr9	86894919	86894919	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	aggctgtcatgaagcaggccAcggtccccgcaatcagagct	12	13	2	2			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr9:86894919A>G	ENST00000376238.4	-	16	1848	c.1799T>C	c.(1798-1800)gTg>gCg	p.V600A	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Missense_Mutation_p.V531A	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	600					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	GAAGCAGGCCACGGTCCCCGC	0.587																																					Ovarian(106;425 1539 34835 42413 43572)	ENST00000376238.4																			0				endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1798-1800)gTg>gCg		solute carrier family 28 (concentrative nucleoside transporter), member 3							88	72	77					9																	86894919		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86894919A>G	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1799T>C	9.37:g.86894919A>G	ENSP00000365413:p.Val600Ala		Somatic				SLC28A3_ENST00000537648.1_Missense_Mutation_p.V531A|RP11-380F14.2_ENST00000419815.1_RNA	p.V600A	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	WXS	Illumina GAIIx	Phase_I	Q9HAS3	S28A3_HUMAN			16	1848	-			600					A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.1799T>C	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626136	0.28978	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.06849	3.25;3.25	6.03	3.65	0.41850	Na dependent nucleoside transporter, C-terminal (1);	0.913540	0.09491	N	0.794885	T	0.09512	0.0234	L	0.38692	1.165	0.18873	N	0.999988	B	0.09022	0.002	B	0.23574	0.047	T	0.37430	-0.9706	10	0.42905	T	0.14	-2.5847	10.6305	0.45534	0.8695:0.0:0.1305:0.0	.	600	Q9HAS3	S28A3_HUMAN	A	600;531	ENSP00000365413:V600A;ENSP00000446438:V531A	ENSP00000365413:V600A	V	-	2	0	SLC28A3	86084739	0.000000	0.05858	0.024000	0.17045	0.363000	0.29612	0.426000	0.21363	0.503000	0.28060	0.455000	0.32223	GTG		0.587	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		11	23	0	0	0	1	0	11	23					G	86894919	A	G	86894919	3	3	17	1	0	0	0	0	1	0	0	0	14548	159	6	4	288	4	SLC28A3	9	86894919	Missense_Mutation	SNP	A	TCGA-N6-A4VD-01A-11D-A28R-08		86894919	54318512	49	1172										
CEL	1056	broad.mit.edu	37	chr9	135946658	135946658	+	Frame_Shift_Del	DEL	C	C	-													0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gcccacgggtgactccggggCcccccccgtgccgcccacgg					rs193922638		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr9:135946658delC	ENST00000372080.4	+	11	1794	c.1778delC	c.(1777-1779)gccfs	p.A593fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.A524fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	590	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GACTCCGGGGCCCCCCCCGTG	0.816																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(1777-1779)gcfs		carboxyl ester lipase				18,10,1820		7,0,4,1,8,904	2	3	2			1.3	0	9		3	49,44,4793		4,1,40,6,31,2361	no	codingComplex	CEL	NM_001807.3		11,1,44,7,39,3265	A1A1,A1A2,A1R,A2A2,A2R,RR		1.9034,1.5152,1.7969			135946658	67,54,6613	1177	3008	4185	SO:0001589	frameshift_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135946658delC	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1778delC	9.37:g.135946658delC	ENSP00000361151:p.Ala593fs		Somatic				CEL_ENST00000351304.7_Frame_Shift_Del_p.A524fs	p.A593fs	NM_001807.3	NP_001798.2	WXS	Illumina GAIIx	Phase_I	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	11	1794	+			590			17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Del	DEL	ENST00000372080.4	37	c.1778delC	CCDS43896.1																																																																																				0.816	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			2	4						2	4	---	---	---	---	-	135946658	C	-	135946658	7	5	17	1	0	1	0	1	0	0	0	0	3211	739	26	0	1820	0	CEL	9	135946658	Frame_Shift_Del	DEL	C	TCGA-N6-A4VD-01A-11D-A28R-08	49051739	135946658	5266773	50	1173										
NET1	10276	broad.mit.edu	37	chr10	5496339	5496341	+	In_Frame_Del	DEL	CTC	CTC	-													0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	aagacttcctccagcgatgtCtcgagtctcccttcagtcga							TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:5496339_5496341delCTC	ENST00000355029.4	+	9	1022_1024	c.880_882delCTC	c.(880-882)ctcdel	p.L294del	NET1_ENST00000542715.1_In_Frame_Del_p.L113del|NET1_ENST00000380359.3_In_Frame_Del_p.L240del	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	294	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L240I(1)|p.L294I(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCAGCGATGTCTCGAGTCTCCCT	0.433																																						ENST00000355029.4																			2	Substitution - Missense(2)	p.L240I(1)|p.L294I(1)	large_intestine(2)	breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(880-882)del		neuroepithelial cell transforming 1																																				SO:0001651	inframe_deletion	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5496339_5496341delCTC	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.880_882delCTC	10.37:g.5496339_5496341delCTC	ENSP00000347134:p.Leu294del		Somatic				NET1_ENST00000380359.3_In_Frame_Del_p.L240del|NET1_ENST00000542715.1_In_Frame_Del_p.L113del	p.L294del	NM_001047160.1	NP_001040625.1	WXS	Illumina GAIIx	Phase_I	Q7Z628	ARHG8_HUMAN			9	1022_1024	+			294			DH.		Q12773|Q96D82|Q99903|Q9UEN6	In_Frame_Del	DEL	ENST00000355029.4	37	c.880_882delCTC	CCDS41483.1																																																																																				0.433	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		22	27						22	27	---	---	---	---	-	5496341	CTC	-	5496339	7	5	17	1	0	1	0	1	0	0	0	0	10347	913	32	0	1011	0	NET1	10	5496339	In_Frame_Del	DEL	CTC	TCGA-N6-A4VD-01A-11D-A28R-08		5496339	130038408	51	1174										
KIAA1217	56243	broad.mit.edu	37	chr10	24810839	24810839	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gtgtgcgcagcatgacagacGtcctgaccatgctgcggagg	15	11	0	3	rs560634485		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:24810839G>A	ENST00000376454.3	+	12	2467	c.2437G>A	c.(2437-2439)Gtc>Atc	p.V813I	KIAA1217_ENST00000307544.6_Missense_Mutation_p.V496I|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V778I|KIAA1217_ENST00000376462.1_Missense_Mutation_p.V733I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.V778I|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396445.1_Missense_Mutation_p.V496I|KIAA1217_ENST00000396446.1_Missense_Mutation_p.V496I|KIAA1217_ENST00000376451.2_Missense_Mutation_p.V496I	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	813					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CATGACAGACGTCCTGACCAT	0.632													G|||	1	0.000199681	8e-04	0	5008	,	,		18248	0		0	False		,,,				2504	0					ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(1486-1488)Gtc>Atc		KIAA1217							54	49	51					10																	24810839		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24810839G>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.2437G>A	10.37:g.24810839G>A	ENSP00000365637:p.Val813Ile		Somatic				KIAA1217_ENST00000458595.1_Missense_Mutation_p.V778I|KIAA1217_ENST00000376454.3_Missense_Mutation_p.V813I|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V778I|KIAA1217_ENST00000396445.1_Missense_Mutation_p.V496I|KIAA1217_ENST00000396446.1_Missense_Mutation_p.V496I|KIAA1217_ENST00000376462.1_Missense_Mutation_p.V733I|KIAA1217_ENST00000307544.6_Missense_Mutation_p.V496I	p.V496I			WXS	Illumina GAIIx	Phase_I	Q5T5P2	SKT_HUMAN			7	1746	+			813					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.1486G>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.237558	0.22711	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;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;0.75	5.95	-0.774	0.10991	.	1.178920	0.05914	N	0.632317	T	0.34483	0.0899	N	0.25647	0.755	0.18873	N	0.999987	B;B;B;B;B;B;B;B	0.27166	0.17;0.029;0.035;0.004;0.17;0.035;0.086;0.001	B;B;B;B;B;B;B;B	0.16722	0.01;0.007;0.011;0.003;0.016;0.011;0.016;0.003	T	0.22312	-1.0220	10	0.45353	T	0.12	.	10.467	0.44614	0.3708:0.0866:0.5426:0.0	.	778;778;496;496;496;496;813;813	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	I	733;778;778;496;813;778;628;496;496;496;496;496	ENSP00000365645:V733I;ENSP00000365639:V778I;ENSP00000392625:V778I;ENSP00000365637:V813I;ENSP00000365635:V778I;ENSP00000404798:V628I;ENSP00000302343:V496I;ENSP00000379722:V496I;ENSP00000365634:V496I;ENSP00000379723:V496I	ENSP00000302343:V496I	V	+	1	0	KIAA1217	24850845	0.090000	0.21635	0.379000	0.26080	0.396000	0.30629	0.711000	0.25764	-0.760000	0.04677	-1.119000	0.02030	GTC		0.632	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		29	35	0	0	0	1	0	29	35					A	24810839	G	A	24810839	3	1	17	1	0	0	0	0	1	0	0	0	8225	1145	40	1	2483	1	KIAA1217	10	24810839	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	19314500	24810839	110723908	52	1175										
PTEN	5728	broad.mit.edu	37	chr10	89692980	89692980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	acaagaggccctagatttctAtggggaagtaaggaccagag	13	7	1	3			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:89692980A>G	ENST00000371953.3	+	5	1821	c.464A>G	c.(463-465)tAt>tGt	p.Y155C		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	155	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		Y -> C (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.Y155C(7)|p.?(5)|p.R55fs*1(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)		CTAGATTTCTATGGGGAAGTA	0.373		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(8)|Substitution - Missense(7)|Unknown(5)	p.0?(37)|p.Y155C(7)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.F56fs*2(1)	prostate(16)|central_nervous_system(12)|skin(7)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|ovary(3)|endometrium(2)|thyroid(1)|biliary_tract(1)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM032998	PTEN	M		c.(463-465)tAt>tGt		phosphatase and tensin homolog							55	58	57					10																	89692980		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.chr10:89692980A>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.464A>G	10.37:g.89692980A>G	ENSP00000361021:p.Tyr155Cys	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic					p.Y155C	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	1821	+		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)	155		Y -> C (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.464A>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.356565	0.82243	.	.	ENSG00000171862	ENST00000371953	D	0.85411	-1.98	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92737	0.7691	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93437	0.6790	9	.	.	.	-9.4319	15.1019	0.72284	1.0:0.0:0.0:0.0	.	155	P60484	PTEN_HUMAN	C	155	ENSP00000361021:Y155C	.	Y	+	2	0	PTEN	89682960	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.918000	0.92759	1.953000	0.56701	0.533000	0.62120	TAT		0.373	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		42	3	0	0	0	1	0	42	3					G	89692980	A	G	89692980	3	3	17	1	0	0	0	0	1	0	0	0	12750	449	16	4	482	4	PTEN	10	89692980	Missense_Mutation	SNP	A	TCGA-N6-A4VD-01A-11D-A28R-08	64882141	89692980	45841767	53	1176										
DMBT1	1755	broad.mit.edu	37	chr10	124389946	124389946	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	accgaatgaccattcactttCgaagtgacatcagtttccaa	6	11	2	2	rs143073434		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:124389946C>T	ENST00000338354.3	+	45	5684	c.5578C>T	c.(5578-5580)Cga>Tga	p.R1860*	DMBT1_ENST00000368909.3_Nonsense_Mutation_p.R1860*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.R580*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.R1850*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.R1232*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.R1850*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.R1232*			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1860	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.		R -> L (in dbSNP:rs7099177).		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)				CATTCACTTTCGAAGTGACAT	0.428													C|||	1	0.000199681	0	0	5008	,	,		21179	0.001		0	False		,,,				2504	0				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.(5578-5580)Cga>Tga		deleted in malignant brain tumors 1							96	91	92					10																	124389946		1880	4122	6002	SO:0001587	stop_gained	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.chr10:124389946C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5578C>T	10.37:g.124389946C>T	ENSP00000342210:p.Arg1860*		Somatic				DMBT1_ENST00000368955.3_Nonsense_Mutation_p.R1850*|DMBT1_ENST00000368909.3_Nonsense_Mutation_p.R1860*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.R1232*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.R1232*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.R580*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.R1850*	p.R1860*			WXS	Illumina GAIIx	Phase_I	Q9UGM3	DMBT1_HUMAN			45	5684	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1860		R -> L (in dbSNP:rs7099177).	CUB 1.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Nonsense_Mutation	SNP	ENST00000338354.3	37	c.5578C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	41	8.811651	0.98962	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	.	.	.	4.45	1.35	0.21983	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	2.3495	0.04280	0.153:0.5114:0.1495:0.1861	.	.	.	.	X	1860;1989;1860;1860;1860;1860;1232;1850;1232;1232;1860;1850;1232;6;580	.	ENSP00000331522:R1232X	R	+	1	2	DMBT1	124379936	0.001000	0.12720	0.225000	0.23894	0.386000	0.30323	0.080000	0.14802	0.969000	0.38237	-0.136000	0.14681	CGA		0.428	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		42	8	0	0	0	1	0	42	8					T	124389946	C	T	124389946	4	4	17	1	0	0	0	0	0	1	0	0	4579	876	31	1	5756	1	DMBT1	10	124389946	Nonsense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	34696966	124389946	11144801	54	1177										
ADAM12	8038	broad.mit.edu	37	chr10	127724804	127724804	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gtggaggggaggaagcactcGctgagttgactggggctgag	20	6	0	3			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:127724804G>A	ENST00000368679.4	-	21	2758	c.2449C>T	c.(2449-2451)Cga>Tga	p.R817*		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	817					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.R817*(2)		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)		GGAAGCACTCGCTGAGTTGAC	0.597																																						ENST00000368679.4																			2	Substitution - Nonsense(2)	p.R817*(2)	liver(2)	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.(2449-2451)Cga>Tga		ADAM metallopeptidase domain 12							99	97	98					10																	127724804		2203	4300	6503	SO:0001587	stop_gained	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.chr10:127724804G>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.2449C>T	10.37:g.127724804G>A	ENSP00000357668:p.Arg817*		Somatic					p.R817*	NM_003474.4	NP_003465.3	WXS	Illumina GAIIx	Phase_I	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	21	2758	-		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)	817					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Nonsense_Mutation	SNP	ENST00000368679.4	37	c.2449C>T	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	39	7.512078	0.98329	.	.	ENSG00000148848	ENST00000368679	.	.	.	5.13	3.2	0.36748	.	0.248901	0.25842	N	0.027959	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	12.8207	0.57692	0.0:0.0:0.57:0.43	.	.	.	.	X	817	.	ENSP00000357668:R817X	R	-	1	2	ADAM12	127714794	0.972000	0.33761	0.960000	0.40013	0.222000	0.24845	0.947000	0.29082	0.620000	0.30215	-0.181000	0.13052	CGA		0.597	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			31	44	0	0	0	1	0	31	44					A	127724804	G	A	127724804	4	1	17	1	0	0	0	0	0	1	0	0	236	1095	38	1	292	1	ADAM12	10	127724804	Nonsense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	3334858	127724804	7809943	55	1178										
OR52I2	143502	broad.mit.edu	37	chr11	4608812	4608812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	aattctcaaggcagtatttgGtctctcctcaaagactgctc	7	11	3	1			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:4608812G>A	ENST00000312614.4	+	1	792	c.770G>A	c.(769-771)gGt>gAt	p.G257D		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGTATTTGGTCTCTCCTCA	0.473																																						ENST00000312614.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19						c.(769-771)gGt>gAt		olfactory receptor, family 52, subfamily I, member 2							191	188	189					11																	4608812		2201	4298	6499	SO:0001583	missense	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608812G>A	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.770G>A	11.37:g.4608812G>A	ENSP00000308764:p.Gly257Asp		Somatic					p.G257D	NM_001005170.2	NP_001005170.1	WXS	Illumina GAIIx	Phase_I	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	792	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	257					B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	c.770G>A	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	G	8.678	0.904516	0.17760	.	.	ENSG00000226288	ENST00000312614	T	0.37584	1.19	4.17	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.706131	0.12362	N	0.475516	T	0.41026	0.1141	M	0.81179	2.53	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.40534	-0.9558	10	0.66056	D	0.02	2.7296	8.9416	0.35733	0.1064:0.0:0.8936:0.0	.	257	Q8NH67	O52I2_HUMAN	D	257	ENSP00000308764:G257D	ENSP00000308764:G257D	G	+	2	0	OR52I2	4565388	0.000000	0.05858	0.066000	0.19879	0.978000	0.69477	-0.011000	0.12721	0.990000	0.38787	0.638000	0.83543	GGT		0.473	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		42	69	0	0	0	1	0	42	69					A	4608812	G	A	4608812	3	1	17	1	0	0	0	0	1	0	0	0	11130	1261	44	3	772	3	OR52I2	11	4608812	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08		4608812	130397704	56	1179										
MRGPRX3	117195	broad.mit.edu	37	chr11	18159005	18159005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	acattatatgttcgccgttaCgcctcatcaatatccgccat	5	13	2	0	rs141255495		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:18159005C>T	ENST00000396275.2	+	3	617	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTCGCCGTTACGCCTCATCAA	0.547																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(256-258)Cgc>Tgc		MAS-related GPR, member X3		C	CYS/ARG	1,4399	2.1+/-5.4	0,1,2199	104	99	101		256	-2.9	0	11	dbSNP_134	101	0,8586		0,0,4293	no	missense	MRGPRX3	NM_054031.3	180	0,1,6492	TT,TC,CC		0.0,0.0227,0.0077	benign	86/323	18159005	1,12985	2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159005C>T		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.256C>T	11.37:g.18159005C>T	ENSP00000379571:p.Arg86Cys		Somatic					p.R86C	NM_054031.3	NP_473372.3	WXS	Illumina GAIIx	Phase_I	Q96LB0	MRGX3_HUMAN			3	617	+			86					B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.256C>T	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	2.094	-0.407619	0.04832	2.27E-4	0.0	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.09723	2.95;2.95	1.46	-2.93	0.05598	GPCR, rhodopsin-like superfamily (1);	6.703250	0.00166	N	0.000000	T	0.08223	0.0205	L	0.35487	1.065	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.24764	-1.0151	10	0.41790	T	0.15	.	1.5345	0.02542	0.2692:0.4211:0.1589:0.1508	.	86	Q96LB0	MRGX3_HUMAN	C	86	ENSP00000379571:R86C;ENSP00000436242:R86C	ENSP00000379571:R86C	R	+	1	0	MRGPRX3	18115581	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.755000	0.01814	-2.232000	0.00717	-0.719000	0.03609	CGC		0.547	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		45	67	0	0	0	1	0	45	67					T	18159005	C	T	18159005	3	4	17	1	0	0	0	0	1	0	0	0	9777	536	19	1	258	1	MRGPRX3	11	18159005	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	13550193	18159005	116847511	57	1180										
DGKZ	8525	broad.mit.edu	37	chr11	46388900	46388900	+	Frame_Shift_Del	DEL	C	C	-													0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ccctccgcccacccctggggCcccgtgcagcgagtcagagc							TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:46388900delC	ENST00000454345.1	+	3	913	c.788delC	c.(787-789)gccfs	p.A263fs	DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000532868.2_Frame_Shift_Del_p.A79fs|DGKZ_ENST00000456247.2_Frame_Shift_Del_p.A74fs|DGKZ_ENST00000421244.2_Frame_Shift_Del_p.A74fs|DGKZ_ENST00000527911.1_Frame_Shift_Del_p.A74fs|DGKZ_ENST00000343674.6_Frame_Shift_Del_p.A91fs|DGKZ_ENST00000395574.3_Frame_Shift_Del_p.A40fs|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000318201.8_Frame_Shift_Del_p.A74fs|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	263					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)		ACCCCTGGGGCCCCGTGCAGC	0.662																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(787-789)gcfs		diacylglycerol kinase, zeta							26	30	29					11																	46388900		2194	4297	6491	SO:0001589	frameshift_variant	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46388900delC	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.788delC	11.37:g.46388900delC	ENSP00000412178:p.Ala263fs		Somatic				DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000395574.3_Frame_Shift_Del_p.A40fs|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000532868.2_Frame_Shift_Del_p.A79fs|DGKZ_ENST00000318201.8_Frame_Shift_Del_p.A74fs|DGKZ_ENST00000421244.2_Frame_Shift_Del_p.A74fs|DGKZ_ENST00000456247.2_Frame_Shift_Del_p.A74fs|DGKZ_ENST00000343674.6_Frame_Shift_Del_p.A91fs|DGKZ_ENST00000527911.1_Frame_Shift_Del_p.A74fs	p.A263fs	NM_001105540.1	NP_001099010.1	WXS	Illumina GAIIx	Phase_I	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	3	913	+			263					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Frame_Shift_Del	DEL	ENST00000454345.1	37	c.788delC	CCDS41640.1																																																																																				0.662	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		21	29						21	29	---	---	---	---	-	46388900	C	-	46388900	7	5	17	1	0	1	0	1	0	0	0	0	4476	739	26	0	1238	0	DGKZ	11	46388900	Frame_Shift_Del	DEL	C	TCGA-N6-A4VD-01A-11D-A28R-08	28229895	46388900	88617616	58	1181										
OR4C6	219432	broad.mit.edu	37	chr11	55432696	55432696	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cttctgggtctcacagagaaCctggagctgtggaaaatatt	11	8	2	1			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:55432696C>G	ENST00000314259.3	+	1	83	c.54C>G	c.(52-54)aaC>aaG	p.N18K		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	18						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						TCACAGAGAACCTGGAGCTGT	0.383																																						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.(52-54)aaC>aaG		olfactory receptor, family 4, subfamily C, member 6							141	132	135					11																	55432696		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432696C>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.54C>G	11.37:g.55432696C>G	ENSP00000324769:p.Asn18Lys		Somatic					p.N18K	NM_001004704.1	NP_001004704.1	WXS	Illumina GAIIx	Phase_I	Q8NH72	OR4C6_HUMAN			1	83	+			18					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.54C>G	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255755	0.22965	.	.	ENSG00000181903	ENST00000314259	T	0.01076	5.37	3.83	-4.27	0.03744	.	0.569265	0.14458	N	0.318362	T	0.01627	0.0052	L	0.58969	1.84	0.09310	N	1	P	0.37176	0.586	B	0.40864	0.342	T	0.27640	-1.0068	10	0.66056	D	0.02	.	7.958	0.30055	0.0:0.5785:0.1238:0.2977	.	18	Q8NH72	OR4C6_HUMAN	K	18	ENSP00000324769:N18K	ENSP00000324769:N18K	N	+	3	2	OR4C6	55189272	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.631000	0.00409	-0.596000	0.05821	-0.406000	0.06334	AAC		0.383	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		33	50	0	0	0	1	0	33	50					G	55432696	C	G	55432696	3	3	17	1	0	0	0	0	1	0	0	0	11061	506	18	5	56	5	OR4C6	11	55432696	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	9043796	55432696	79573820	59	1182										
CDC42EP2	10435	broad.mit.edu	37	chr11	65088659	65088659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cgtgtgtgggcgggagctccCggacggcccatcccctctgc	15	16	1	0			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:65088659C>T	ENST00000544348.1	+	2	896	c.290C>T	c.(289-291)cCg>cTg	p.P97L	CDC42EP2_ENST00000279249.2_Missense_Mutation_p.P97L|CDC42EP2_ENST00000533419.1_Missense_Mutation_p.P97L			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	97					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						CGGGAGCTCCCGGACGGCCCA	0.682																																						ENST00000544348.1																			0				lung(1)	1						c.(289-291)cCg>cTg		CDC42 effector protein (Rho GTPase binding) 2							69	70	70					11																	65088659		2201	4297	6498	SO:0001583	missense	10435				actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity	g.chr11:65088659C>T	AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"CRIB-containing BOGR1 protein"	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.290C>T	11.37:g.65088659C>T	ENSP00000442534:p.Pro97Leu		Somatic				CDC42EP2_ENST00000533419.1_Missense_Mutation_p.P97L|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.P97L	p.P97L			WXS	Illumina GAIIx	Phase_I	O14613	BORG1_HUMAN			2	896	+			97					B2RD85|Q9UNS0	Missense_Mutation	SNP	ENST00000544348.1	37	c.290C>T	CCDS8099.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666791	0.29604	.	.	ENSG00000149798	ENST00000279249;ENST00000533419;ENST00000544348	T;T;T	0.33654	1.4;1.4;1.4	5.23	5.23	0.72850	.	0.266824	0.31685	N	0.007240	T	0.26774	0.0655	L	0.44542	1.39	0.50467	D	0.999879	P	0.44659	0.84	B	0.28553	0.091	T	0.10543	-1.0625	10	0.38643	T	0.18	-24.5734	16.3336	0.83051	0.0:1.0:0.0:0.0	.	97	O14613	BORG1_HUMAN	L	97	ENSP00000279249:P97L;ENSP00000431660:P97L;ENSP00000442534:P97L	ENSP00000279249:P97L	P	+	2	0	CDC42EP2	64845235	0.004000	0.15560	0.956000	0.39512	0.283000	0.27025	2.001000	0.40825	2.720000	0.93068	0.591000	0.81541	CCG		0.682	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387258.1	NM_006779		29	44	0	0	0	1	0	29	44					T	65088659	C	T	65088659	3	4	17	1	0	0	0	0	1	0	0	0	3078	652	23	1	292	1	CDC42EP2	11	65088659	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	9655963	65088659	69917857	60	1183										
KIRREL3	84623	broad.mit.edu	37	chr11	126306737	126306737	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	agccggatgatctcagtgtcGgagccgaagctgttccaggc	14	11	1	1			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:126306737G>A	ENST00000525144.2	-	12	1770	c.1521C>T	c.(1519-1521)tcC>tcT	p.S507S	KIRREL3_ENST00000525704.2_Silent_p.S507S|KIRREL3_ENST00000529097.2_Silent_p.S507S|KIRREL3_ENST00000416561.2_5'UTR	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	507	Ig-like C2-type 5.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S466S(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCTCAGTGTCGGAGCCGAAGC	0.607																																						ENST00000525144.2																			1	Substitution - coding silent(1)	p.S466S(1)	ovary(1)	central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(1519-1521)tcC>tcT		kin of IRRE like 3 (Drosophila)							113	120	117					11																	126306737		2195	4297	6492	SO:0001819	synonymous_variant	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126306737G>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1521C>T	11.37:g.126306737G>A			Somatic				KIRREL3_ENST00000416561.2_5'UTR|KIRREL3_ENST00000525704.2_Silent_p.S507S|KIRREL3_ENST00000529097.2_Silent_p.S507S	p.S507S	NM_032531.3	NP_115920.1	WXS	Illumina GAIIx	Phase_I	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	12	1770	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	507			Ig-like C2-type 5.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	c.1521C>T	CCDS53723.1																																																																																				0.607	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		16	22	0	0	0	1	0	16	22					A	126306737	G	A	126306737	2	1	17	1	0	0	0	0	0	0	0	1	8335	1103	39	1		1	KIRREL3	11	126306737	Silent	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	61218078	126306737	8699779	61	1184										
GLB1L3	112937	broad.mit.edu	37	chr11	134179612	134179612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ccaactttggtttcatgaacGgggccacatatttcgggaag	11	9	1	1			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:134179612G>A	ENST00000431683.2	+	11	1054	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	352					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)		TTTCATGAACGGGGCCACATA	0.483																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1054-1056)Ggg>Agg		galactosidase, beta 1-like 3							79	76	77					11																	134179612		1926	4119	6045	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134179612G>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.1054G>A	11.37:g.134179612G>A	ENSP00000396615:p.Gly352Arg		Somatic					p.G352R	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)	11	1054	+	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)	352					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.1054G>A	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151499	0.78001	.	.	ENSG00000166105	ENST00000431683	D	0.98649	-5.05	4.76	4.76	0.60689	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.052976	0.85682	D	0.000000	D	0.99515	0.9827	H	0.99225	4.475	0.53005	D	0.999966	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.97764	1.0222	10	0.87932	D	0	.	13.4492	0.61161	0.0:0.0:1.0:0.0	.	13;352	Q8NCI6-2;Q8NCI6	.;GLBL3_HUMAN	R	352	ENSP00000396615:G352R	ENSP00000396615:G352R	G	+	1	0	GLB1L3	133684822	1.000000	0.71417	0.057000	0.19452	0.312000	0.27988	5.226000	0.65299	2.619000	0.88677	0.455000	0.32223	GGG		0.483	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		3	12	0	0	0	1	0	3	12					A	134179612	G	A	134179612	3	1	17	1	0	0	0	0	1	0	0	0	6438	1116	39	1	1096	1	GLB1L3	11	134179612	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	7872875	134179612	826904	62	1185										
DCP1B	196513	broad.mit.edu	37	chr12	2062350	2062351	+	In_Frame_Ins	INS	-	-	TGG													0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gctgctgctgctgctgctgcINStggtggagagtctgcggagg					rs570843986	byFrequency	TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr12:2062350_2062351insTGG	ENST00000280665.6	-	7	834_835	c.755_756insCCA	c.(754-756)cag>caCCAg	p.251_252insH	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_In_Frame_Ins_p.125_126insH|DCP1B_ENST00000397173.4_In_Frame_Ins_p.149_150insH	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	251	Poly-Gln.			H -> HQ (in Ref. 1; AAN62764, 2; BAB71118 and 4; AAH15368/AAH43437). {ECO:0000305}.	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAGT	0.55																																						ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)cca>cCCAca		decapping mRNA 1B																																				SO:0001652	inframe_insertion	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350_2062351insTGG	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"DCP1 decapping enzyme homolog B (S. cerevisiae)"			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.753_755dupCCA	12.37:g.2062354_2062356dupTGG	ENSP00000280665:p.His251_His251dup		Somatic				DCP1B_ENST00000540622.1_In_Frame_Ins_p.126_127insT|DCP1B_ENST00000397173.4_In_Frame_Ins_p.150_151insT|DCP1B_ENST00000541700.1_5'UTR	p.252_253insT	NM_152640.3	NP_689853.3	WXS	Illumina GAIIx	Phase_I	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	834_835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	In_Frame_Ins	INS	ENST00000280665.6	37	c.755_756insCCA	CCDS31727.1																																																																																				0.55	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		22	34						22	34	---	---	---	---	TGG	2062351	-	TGG	2062350	7	5	17	1	0	1	1	0	0	0	0	0	4301	796	28	0	1109	0	DCP1B	12	2062350	In_Frame_Ins	INS	-	TCGA-N6-A4VD-01A-11D-A28R-08		2062350	131789545	63	1186										
ADCY6	112	broad.mit.edu	37	chr12	49169177	49169177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	tgctgcgggcatcgatggcaCggctcaggaactcatccacc	12	14	2	0			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr12:49169177C>T	ENST00000307885.4	-	10	2583	c.1889G>A	c.(1888-1890)cGt>cAt	p.R630H	ADCY6_ENST00000357869.3_Missense_Mutation_p.R630H|ADCY6_ENST00000550422.1_Missense_Mutation_p.R630H|ADCY6_ENST00000552090.1_5'UTR	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	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)|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						ATCGATGGCACGGCTCAGGAA	0.587																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1888-1890)cGt>cAt		adenylate cyclase 6							82	72	76					12																	49169177		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49169177C>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.1889G>A	12.37:g.49169177C>T	ENSP00000311405:p.Arg630His		Somatic				ADCY6_ENST00000550422.1_Missense_Mutation_p.R630H|ADCY6_ENST00000357869.3_Missense_Mutation_p.R630H|ADCY6_ENST00000552090.1_5'UTR	p.R630H	NM_015270.3	NP_056085.1	WXS	Illumina GAIIx	Phase_I	O43306	ADCY6_HUMAN			10	2583	-			630					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.1889G>A	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	C	36	5.742262	0.96873	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.78126	-1.15;-1.15;-1.15	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000001	D	0.85225	0.5648	L	0.49778	1.585	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.949	D	0.86025	0.1509	10	0.59425	D	0.04	.	17.614	0.88063	0.0:1.0:0.0:0.0	.	630;630	O43306-2;O43306	.;ADCY6_HUMAN	H	630	ENSP00000350536:R630H;ENSP00000446730:R630H;ENSP00000311405:R630H	ENSP00000311405:R630H	R	-	2	0	ADCY6	47455444	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.695000	0.84257	2.533000	0.85409	0.557000	0.71058	CGT		0.587	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		35	37	0	0	0	1	0	35	37					T	49169177	C	T	49169177	3	4	17	1	0	0	0	0	1	0	0	0	298	536	19	1	1665	1	ADCY6	12	49169177	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	47106827	49169177	84682718	64	1187										
GEFT	115557	broad.mit.edu	37	chr12	58009072	58009072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gcgctgcaacgatatgatgaCgctggggagattgcggggat	17	7	0	3	rs542655828		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr12:58009072C>T	ENST00000286494.4	+	11	1473	c.1013C>T	c.(1012-1014)aCg>aTg	p.T338M	AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.T377M|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000593846.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	338						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GATATGATGACGCTGGGGAGA	0.562													C|||	1	0.000199681	0	0	5008	,	,		19205	0		0	False		,,,				2504	0.001					ENST00000286494.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1012-1014)aCg>aTg		Rho guanine nucleotide exchange factor (GEF) 25							54	47	49					12																	58009072		2203	4300	6503	SO:0001583	missense	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58009072C>T		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"Rho guanine nucleotide exchange factors"	30275	protein-coding gene	gene with protein product	"RAC/CDC42 exchange factor"	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1013C>T	12.37:g.58009072C>T	ENSP00000286494:p.Thr338Met		Somatic				AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.T377M|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000593846.1_RNA	p.T338M	NM_182947.3	NP_891992.2	WXS	Illumina GAIIx	Phase_I	Q86VW2	ARHGP_HUMAN			11	1473	+			338					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	c.1013C>T	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	c	17.00	3.276562	0.59758	.	.	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.68624	-0.34;-0.34	4.48	1.25	0.21368	Dbl homology (DH) domain (1);	0.216565	0.23585	N	0.046604	T	0.36276	0.0961	N	0.05124	-0.11	0.30075	N	0.809677	B;B	0.32862	0.387;0.008	B;B	0.19148	0.024;0.007	T	0.39781	-0.9597	10	0.87932	D	0	.	6.8386	0.23951	0.3254:0.357:0.3177:0.0	.	377;338	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	M	377;338	ENSP00000335560:T377M;ENSP00000286494:T338M	ENSP00000286494:T338M	T	+	2	0	ARHGEF25	56295339	0.998000	0.40836	0.993000	0.49108	0.994000	0.84299	3.642000	0.54367	0.569000	0.29329	0.561000	0.74099	ACG		0.562	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		16	33	0	0	0	1	0	16	33					T	58009072	C	T	58009072	3	4	17	1	0	0	0	0	1	0	0	0	6336	536	19	1	1277	1	GEFT	12	58009072	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	8839895	58009072	75842823	65	1188										
FGD6	55785	broad.mit.edu	37	chr12	95531317	95531317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cctcaaattctctaacaacaGcagcaaaacctggatttttc	4	12	2	0			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr12:95531317G>A	ENST00000343958.4	-	7	3198	c.2975C>T	c.(2974-2976)gCt>gTt	p.A992V	FGD6_ENST00000549499.1_Missense_Mutation_p.A992V|FGD6_ENST00000546711.1_Missense_Mutation_p.A992V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	992	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.			A -> T (in Ref. 2; AAH13319). {ECO:0000305}.	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)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCTAACAACAGCAGCAAAACC	0.328																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2974-2976)gCt>gTt		FYVE, RhoGEF and PH domain containing 6							127	119	122					12																	95531317		2203	4299	6502	SO:0001583	missense	55785				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.chr12:95531317G>A	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2975C>T	12.37:g.95531317G>A	ENSP00000344446:p.Ala992Val		Somatic				FGD6_ENST00000546711.1_Missense_Mutation_p.A992V|FGD6_ENST00000549499.1_Missense_Mutation_p.A992V	p.A992V	NM_018351.3	NP_060821.3	WXS	Illumina GAIIx	Phase_I	Q6ZV73	FGD6_HUMAN			7	3198	-			992	A -> T (in Ref. 2; AAH13319).		DH.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2975C>T	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566668	0.65651	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.64991	-0.13;-0.13;-0.13	4.98	4.98	0.66077	Dbl homology (DH) domain (5);	0.299817	0.24094	N	0.041611	T	0.71929	0.3398	M	0.65975	2.015	0.39660	D	0.970609	P;P	0.45768	0.581;0.866	B;P	0.51170	0.287;0.661	T	0.75028	-0.3462	10	0.49607	T	0.09	-1.5707	18.6143	0.91296	0.0:0.0:1.0:0.0	.	992;992	Q6ZV73-2;Q6ZV73	.;FGD6_HUMAN	V	992	ENSP00000344446:A992V;ENSP00000450342:A992V;ENSP00000449005:A992V	ENSP00000344446:A992V	A	-	2	0	FGD6	94055448	1.000000	0.71417	0.945000	0.38365	0.793000	0.44817	5.036000	0.64164	2.477000	0.83638	0.561000	0.74099	GCT		0.328	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		21	33	0	0	0	1	0	21	33					A	95531317	G	A	95531317	3	1	17	1	0	0	0	0	1	0	0	0	5845	971	34	3	1377	3	FGD6	12	95531317	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	37522245	95531317	38320578	66	1189										
CDX2	1045	broad.mit.edu	37	chr13	28537414	28537414	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ggctgtggtggcggcggaggCggctgtggtggctgctgctg	23	8	0	0			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr13:28537414C>T	ENST00000381020.7	-	3	2912	c.780G>A	c.(778-780)ccG>ccA	p.P260P	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	260	Poly-Pro.				anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GCGGCGGAGGCGGCTGTGGTG	0.567			T	ETV6	AML																																	ENST00000381020.7				Dom	yes		13	13q12.3	1045	T	caudal type homeo box transcription factor 2			L	ETV6		AML		0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(778-780)ccG>ccA		caudal type homeobox 2							68	51	57					13																	28537414		2203	4300	6503	SO:0001819	synonymous_variant	1045				organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28537414C>T	Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"Homeoboxes / ANTP class : HOXL subclass"	1806	protein-coding gene	gene with protein product		600297	"caudal type homeo box transcription factor 2"	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.780G>A	13.37:g.28537414C>T			Somatic				CDX2_ENST00000548877.1_5'UTR	p.P260P	NM_001265.4	NP_001256.3	WXS	Illumina GAIIx	Phase_I	Q99626	CDX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)	3	2912	-	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	260			Poly-Pro.		O00503|Q5VTU7|Q969L8|Q9UD92	Silent	SNP	ENST00000381020.7	37	c.780G>A	CCDS9328.1	.	.	.	.	.	.	.	.	.	.	C	1.912	-0.450431	0.04572	.	.	ENSG00000165556	ENST00000548877	.	.	.	3.95	2.17	0.27698	.	.	.	.	.	T	0.53738	0.1815	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42189	-0.9466	4	.	.	.	-1.6494	5.8304	0.18577	0.1809:0.509:0.3101:0.0	.	.	.	.	H	103	.	.	R	-	2	0	CDX2	27435414	0.894000	0.30519	0.265000	0.24526	0.173000	0.22820	0.000000	0.12993	0.293000	0.22520	0.609000	0.83330	CGC		0.567	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044312.5			25	23	0	0	0	1	0	25	23					T	28537414	C	T	28537414	2	4	17	1	0	0	0	0	0	0	0	1	3185	755	27	1		1	CDX2	13	28537414	Silent	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08		28537414	86632464	67	1190										
FLT1	2321	broad.mit.edu	37	chr13	28896990	28896990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gccggagctcgcaaagctttCgctgctggtgacgctatcta	12	12	1	1			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr13:28896990C>T	ENST00000282397.4	-	21	3141	c.2890G>A	c.(2890-2892)Gaa>Aaa	p.E964K	FLT1_ENST00000540678.1_Missense_Mutation_p.E182K|FLT1_ENST00000543394.1_5'Flank	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	964	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	GCAAAGCTTTCGCTGCTGGTG	0.478																																						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.(2890-2892)Gaa>Aaa		fms-related tyrosine kinase 1	Sunitinib(DB01268)						202	181	188					13																	28896990		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28896990C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2890G>A	13.37:g.28896990C>T	ENSP00000282397:p.Glu964Lys		Somatic				FLT1_ENST00000540678.1_Missense_Mutation_p.E182K	p.E964K	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)	21	3141	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	964			Protein kinase.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.2890G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293290	0.40594	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	T;T	0.76968	-0.83;-1.06	5.9	5.05	0.67936	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.238816	0.43110	D	0.000619	T	0.70369	0.3216	N	0.25245	0.725	0.80722	D	1	D	0.69078	0.997	P	0.52758	0.708	T	0.66484	-0.5912	10	0.08179	T	0.78	.	12.2569	0.54629	0.1339:0.7373:0.1288:0.0	.	964	P17948	VGFR1_HUMAN	K	964;182	ENSP00000282397:E964K;ENSP00000443311:E182K	ENSP00000282397:E964K	E	-	1	0	FLT1	27794990	0.990000	0.36364	0.991000	0.47740	0.693000	0.40251	2.844000	0.48246	1.497000	0.48584	0.556000	0.70494	GAA		0.478	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			40	75	0	0	0	1	0	40	75					T	28896990	C	T	28896990	3	4	17	1	0	0	0	0	1	0	0	0	5949	893	31	1	1166	1	FLT1	13	28896990	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	359576	28896990	86272888	68	1191										
SMOC1	64093	broad.mit.edu	37	chr14	70346406	70346406	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ggctggcaccatgctgcccgCgcgctgcgcccgcctgctca	13	19	1	0			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr14:70346406C>A	ENST00000381280.4	+	1	264	c.11C>A	c.(10-12)gCg>gAg	p.A4E	SMOC1_ENST00000555917.1_Intron|SMOC1_ENST00000361956.3_Missense_Mutation_p.A4E	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	4					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)		ATGCTGCCCGCGCGCTGCGCC	0.751																																						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.(10-12)gCg>gAg		SPARC related modular calcium binding 1							5	6	6					14																	70346406		2073	4083	6156	SO:0001583	missense	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70346406C>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.11C>A	14.37:g.70346406C>A	ENSP00000370680:p.Ala4Glu		Somatic				SMOC1_ENST00000555917.1_Intron|SMOC1_ENST00000361956.3_Missense_Mutation_p.A4E	p.A4E	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)	1	264	+			4					A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	c.11C>A	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	c	9.665	1.145224	0.21288	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.56941	0.43;0.43	5.1	3.23	0.37069	.	1.963980	0.02586	N	0.099477	T	0.32823	0.0842	N	0.08118	0	0.28043	N	0.933671	B;B	0.30281	0.275;0.039	B;B	0.26202	0.067;0.02	T	0.30707	-0.9969	10	0.27082	T	0.32	-8.8282	6.2112	0.20630	0.0:0.6484:0.244:0.1076	.	4;4	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	E	4	ENSP00000355110:A4E;ENSP00000370680:A4E	ENSP00000355110:A4E	A	+	2	0	SMOC1	69416159	0.997000	0.39634	1.000000	0.80357	0.067000	0.16453	0.404000	0.20999	1.169000	0.42739	-0.665000	0.03846	GCG		0.751	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			6	3	1	0	3.59834e-05	1	3.66038e-05	6	3					A	70346406	C	A	70346406	3	1	17	1	0	0	0	0	1	0	0	0	14816	768	27	5	13	5	SMOC1	14	70346406	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08		70346406	37003134	69	1192										
BCL11B	64919	broad.mit.edu	37	chr14	99641543	99641544	+	In_Frame_Ins	INS	-	-	CTC													0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ctctcgttctccagtagcagINSctcctcctcctcctcctcct							TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr14:99641543_99641544insCTC	ENST00000357195.3	-	4	1638_1639	c.1629_1630insGAG	c.(1627-1632)gagctg>gagGAGctg	p.543_544insE	BCL11B_ENST00000443726.2_In_Frame_Ins_p.349_350insE|BCL11B_ENST00000345514.2_In_Frame_Ins_p.472_473insE	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	543	Glu-rich.				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)		TCCAGTAGCAGctcctcctcct	0.698			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.(1414-1419)gatgct>gaGAGtgct		B-cell CLL/lymphoma 11B (zinc finger protein)																																				SO:0001652	inframe_insertion	64919					nucleus	zinc ion binding	g.chr14:99641543_99641544insCTC	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.1627_1629dupGAG	14.37:g.99641550_99641552dupCTC	ENSP00000349723:p.Glu543_Glu543dup		Somatic				BCL11B_ENST00000443726.2_In_Frame_Ins_p.349_349D>ES|BCL11B_ENST00000357195.3_In_Frame_Ins_p.543_543D>ES	p.472_472D>ES	NM_022898.1	NP_075049.1	WXS	Illumina GAIIx	Phase_I	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1682_1683	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	543					Q9H162	In_Frame_Ins	INS	ENST00000357195.3	37	c.1416_1417insGAG	CCDS9950.1																																																																																				0.698	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		3	5						3	5	---	---	---	---	CTC	99641544	-	CTC	99641543	7	5	17	1	0	1	1	0	0	0	0	0	1364	962	34	0	1058	0	BCL11B	14	99641543	In_Frame_Ins	INS	-	TCGA-N6-A4VD-01A-11D-A28R-08	29295137	99641543	7707997	70	1193										
TMEM62	80021	broad.mit.edu	37	chr15	43441229	43441229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ttatttttcattggttagttCggctatagcttatttgtgtg	9	4	1	0			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr15:43441229C>T	ENST00000260403.2	+	7	1025	c.746C>T	c.(745-747)tCg>tTg	p.S249L		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	249						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TTGGTTAGTTCGGCTATAGCT	0.408																																						ENST00000260403.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(745-747)tCg>tTg		transmembrane protein 62							140	136	138					15																	43441229		2203	4299	6502	SO:0001583	missense	80021					integral to membrane		g.chr15:43441229C>T	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.746C>T	15.37:g.43441229C>T	ENSP00000260403:p.Ser249Leu		Somatic					p.S249L	NM_024956.3	NP_079232.3	WXS	Illumina GAIIx	Phase_I	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	7	1025	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	249					Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	c.746C>T	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674580	0.88445	.	.	ENSG00000137842	ENST00000260403	T	0.70399	-0.48	4.96	4.96	0.65561	.	0.115142	0.64402	D	0.000010	T	0.81235	0.4780	M	0.75264	2.295	0.58432	D	0.999998	D	0.69078	0.997	P	0.57679	0.825	T	0.81441	-0.0931	10	0.40728	T	0.16	-7.3823	18.5638	0.91110	0.0:1.0:0.0:0.0	.	249	Q0P6H9	TMM62_HUMAN	L	249	ENSP00000260403:S249L	ENSP00000260403:S249L	S	+	2	0	TMEM62	41228521	1.000000	0.71417	0.981000	0.43875	0.824000	0.46624	5.672000	0.68102	2.459000	0.83118	0.467000	0.42956	TCG		0.408	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		27	30	0	0	0	1	0	27	30					T	43441229	C	T	43441229	3	4	17	1	0	0	0	0	1	0	0	0	16204	893	31	1	772	1	TMEM62	15	43441229	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08		43441229	59090163	71	1194										
BFAR	51283	broad.mit.edu	37	chr16	14743799	14743799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cttgggcatctctttacaggGaaaggtttttatctgaacga	10	7	2	1			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr16:14743799G>A	ENST00000261658.2	+	4	884	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	BFAR_ENST00000563971.1_Intron|BFAR_ENST00000426842.2_Missense_Mutation_p.E75K	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	203	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TCTTTACAGGGAAAGGTTTTT	0.493																																						ENST00000261658.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						c.(607-609)Gaa>Aaa		bifunctional apoptosis regulator							70	69	69					16																	14743799		2197	4300	6497	SO:0001583	missense	51283				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	g.chr16:14743799G>A	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"RING-type (C3HC4) zinc fingers", "Sterile alpha motif (SAM) domain containing"	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.607G>A	16.37:g.14743799G>A	ENSP00000261658:p.Glu203Lys		Somatic				BFAR_ENST00000563971.1_Intron|BFAR_ENST00000426842.2_Missense_Mutation_p.E75K	p.E203K	NM_016561.2	NP_057645.1	WXS	Illumina GAIIx	Phase_I	Q9NZS9	BFAR_HUMAN			4	884	+			203			SAM.		A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	ENST00000261658.2	37	c.607G>A	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474310	0.84640	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.51574	0.7;0.7	5.35	5.35	0.76521	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.213257	0.47455	D	0.000221	T	0.44973	0.1319	L	0.55743	1.74	0.52501	D	0.999958	B;B	0.25048	0.049;0.117	B;B	0.30179	0.112;0.082	T	0.38178	-0.9673	10	0.07813	T	0.8	.	18.0392	0.89314	0.0:0.0:1.0:0.0	.	75;203	B4DUT0;Q9NZS9	.;BFAR_HUMAN	K	203;75	ENSP00000261658:E203K;ENSP00000400634:E75K	ENSP00000261658:E203K	E	+	1	0	BFAR	14651300	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.742000	0.85008	2.498000	0.84270	0.462000	0.41574	GAA		0.493	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		17	33	0	0	0	1	0	17	33					A	14743799	G	A	14743799	3	1	17	1	0	0	0	0	1	0	0	0	1414	1175	41	3	617	3	BFAR	16	14743799	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08		14743799	75610954	72	1195										
EXOC3L	283849	broad.mit.edu	37	chr16	67219060	67219060	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	tgaaccgtggggttccgcacGcgccagaagtcccggcagaa	14	13	0	3			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr16:67219060G>A	ENST00000314586.6	-	11	1968	c.1728C>T	c.(1726-1728)cgC>cgT	p.R576R	KIAA0895L_ENST00000561621.1_5'Flank|KIAA0895L_ENST00000563831.2_5'Flank|KIAA0895L_ENST00000563902.1_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	576					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						GGTTCCGCACGCGCCAGAAGT	0.677																																						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.(1726-1728)cgC>cgT		exocyst complex component 3-like 1							34	42	39					16																	67219060		2197	4298	6495	SO:0001819	synonymous_variant	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67219060G>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.1728C>T	16.37:g.67219060G>A			Somatic					p.R576R	NM_178516.3	NP_848611.2	WXS	Illumina GAIIx	Phase_I	Q86VI1	EX3L1_HUMAN			11	1968	-			576					A8K7I9|Q8NAD2|Q8TEN2	Silent	SNP	ENST00000314586.6	37	c.1728C>T	CCDS10832.1																																																																																				0.677	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		51	53	0	0	0	1	0	51	53					A	67219060	G	A	67219060	2	1	17	1	0	0	0	0	0	0	0	1	5306	1074	38	1		1	EXOC3L	16	67219060	Silent	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	52475261	67219060	23135693	73	1196										
ACSF3	197322	broad.mit.edu	37	chr16	89167646	89167646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	agaggaaccggcagaggtccCggtcccagagcagggatgga	17	10	0	3	rs376098216	byFrequency	TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr16:89167646C>T	ENST00000317447.4	+	3	934	c.557C>T	c.(556-558)cCg>cTg	p.P186L	ACSF3_ENST00000406948.3_Missense_Mutation_p.P186L|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	186					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GCAGAGGTCCCGGTCCCAGAG	0.642													C|||	2	0.000399361	0	0	5008	,	,		11118	0		0	False		,,,				2504	0.002					ENST00000317447.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15						c.(556-558)cCg>cTg		acyl-CoA synthetase family member 3							15	12	13					16																	89167646		2194	4296	6490	SO:0001583	missense	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89167646C>T	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"Acyl-CoA synthetase family"	27288	protein-coding gene	gene with protein product	"malonyl-CoA synthetase"	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.557C>T	16.37:g.89167646C>T	ENSP00000320646:p.Pro186Leu		Somatic				ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.P186L	p.P186L	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	WXS	Illumina GAIIx	Phase_I	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	3	934	+			186					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	c.557C>T	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	C	4.268	0.048804	0.08243	.	.	ENSG00000176715	ENST00000317447;ENST00000537290;ENST00000406948	T;T;T	0.39787	1.06;1.06;1.06	5.27	-10.5	0.00291	AMP-dependent synthetase/ligase (1);	3.021660	0.01069	N	0.004786	T	0.16214	0.0390	N	0.05078	-0.115	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.11060	-1.0603	10	0.28530	T	0.3	-1.7398	3.3577	0.07174	0.1243:0.404:0.2467:0.2249	.	186	Q4G176	ACSF3_HUMAN	L	186	ENSP00000320646:P186L;ENSP00000440734:P186L;ENSP00000384627:P186L	ENSP00000320646:P186L	P	+	2	0	ACSF3	87695147	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.019000	0.01442	-2.277000	0.00677	-1.014000	0.02459	CCG		0.642	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		9	7	0	0	0	1	0	9	7					T	89167646	C	T	89167646	3	4	17	1	0	0	0	0	1	0	0	0	176	652	23	1	559	1	ACSF3	16	89167646	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	21948586	89167646	1187107	74	1197										
SPIRE2	84501	broad.mit.edu	37	chr16	89895123	89895123	+	Frame_Shift_Del	DEL	G	G	-													0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cgcgggctgcggggctcgccGggccggcgcctgcgggatac							TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr16:89895123delG	ENST00000378247.3	+	1	208	c.165delG	c.(163-165)ccgfs	p.P55fs	SPIRE2_ENST00000564878.1_Intron|SPIRE2_ENST00000393062.2_Frame_Shift_Del_p.P55fs|SPIRE2_ENST00000563972.1_Frame_Shift_Del_p.P55fs	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	55	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GGGGCTCGCCGGGCCGGCGCC	0.781																																						ENST00000378247.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(163-165)ccfs		spire-type actin nucleation factor 2							3	4	4					16																	89895123		1584	3199	4783	SO:0001589	frameshift_variant	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89895123delG	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"spire homolog 2 (Drosophila)", "spire family actin nucleation factor 2"			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.165delG	16.37:g.89895123delG	ENSP00000367494:p.Pro55fs		Somatic				SPIRE2_ENST00000564878.1_Intron|SPIRE2_ENST00000563972.1_Frame_Shift_Del_p.P55fs|SPIRE2_ENST00000393062.2_Frame_Shift_Del_p.P55fs	p.P55fs	NM_032451.1	NP_115827.1	WXS	Illumina GAIIx	Phase_I	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	1	208	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	55			KIND.		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Frame_Shift_Del	DEL	ENST00000378247.3	37	c.165delG	CCDS32516.1																																																																																				0.781	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		2	4						2	4	---	---	---	---	-	89895123	G	-	89895123	7	5	17	1	0	1	0	1	0	0	0	0	15087	1103	39	0	167	0	SPIRE2	16	89895123	Frame_Shift_Del	DEL	G	TCGA-N6-A4VD-01A-11D-A28R-08	727477	89895123	459630	75	1198										
SPIRE2	84501	broad.mit.edu	37	chr16	89922602	89922602	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	tggaggagatcaagcaggagCggaggctgcgcccggtgcgg	20	9	1	1	rs199970599		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr16:89922602C>A	ENST00000378247.3	+	7	1103	c.1060C>A	c.(1060-1062)Cgg>Agg	p.R354R	SPIRE2_ENST00000393062.2_Silent_p.R354R	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	354	WH2 3. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CAAGCAGGAGCGGAGGCTGCG	0.682																																						ENST00000378247.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1060-1062)Cgg>Agg		spire-type actin nucleation factor 2							19	20	20					16																	89922602		2188	4290	6478	SO:0001819	synonymous_variant	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89922602C>A	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"spire homolog 2 (Drosophila)", "spire family actin nucleation factor 2"			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1060C>A	16.37:g.89922602C>A			Somatic				SPIRE2_ENST00000393062.2_Silent_p.R354R	p.R354R	NM_032451.1	NP_115827.1	WXS	Illumina GAIIx	Phase_I	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	7	1103	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	354			WH2 3.		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Silent	SNP	ENST00000378247.3	37	c.1060C>A	CCDS32516.1																																																																																				0.682	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		7	11	1	0	1	1	1	7	11					A	89922602	C	A	89922602	2	1	17	1	0	0	0	0	0	0	0	1	15087	759	27	5		5	SPIRE2	16	89922602	Silent	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	27479	89922602	432151	76	1199										
MPRIP	23164	broad.mit.edu	37	chr17	17078626	17078626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ggagctgaacaaccgcctggCtgcagagatcacacggttgc	13	12	1	2			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:17078626C>T	ENST00000341712.4	+	19	2609	c.2609C>T	c.(2608-2610)gCt>gTt	p.A870V	MPRIP_ENST00000444976.1_Missense_Mutation_p.A832V|MPRIP_ENST00000395804.3_Missense_Mutation_p.A870V|MPRIP_ENST00000395811.5_Missense_Mutation_p.A870V|RP11-45M22.3_ENST00000584203.1_RNA			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	870	Interaction with PPP1R12A.					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						AACCGCCTGGCTGCAGAGATC	0.622																																						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.(2608-2610)gCt>gTt		myosin phosphatase Rho interacting protein							53	50	51					17																	17078626		2203	4300	6503	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17078626C>T	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.2609C>T	17.37:g.17078626C>T	ENSP00000342379:p.Ala870Val		Somatic				MPRIP_ENST00000395804.3_Missense_Mutation_p.A870V|MPRIP_ENST00000341712.4_Missense_Mutation_p.A870V|MPRIP_ENST00000444976.1_Missense_Mutation_p.A832V|RP11-45M22.3_ENST00000584203.1_RNA	p.A870V	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	WXS	Illumina GAIIx	Phase_I	Q6WCQ1	MPRIP_HUMAN			19	2698	+			870			Interaction with PPP1R12A.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.2609C>T	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715586	0.89112	.	.	ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.77	5.77	0.91146	.	0.169666	0.52532	D	0.000077	T	0.44705	0.1306	L	0.44542	1.39	0.37047	D	0.897391	D;P;P	0.76494	0.999;0.853;0.953	D;P;B	0.67382	0.951;0.612;0.297	T	0.29058	-1.0024	10	0.39692	T	0.17	-11.3623	19.9925	0.97371	0.0:1.0:0.0:0.0	.	1234;870;870	Q9Y6X7;Q6WCQ1-2;Q6WCQ1	.;.;MPRIP_HUMAN	V	832;870;870;870	ENSP00000400189:A832V;ENSP00000379156:A870V;ENSP00000379149:A870V;ENSP00000342379:A870V	ENSP00000342379:A870V	A	+	2	0	MPRIP	17019351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.596000	0.67570	2.721000	0.93114	0.655000	0.94253	GCT		0.622	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		7	46	0	0	0	1	0	7	46					T	17078626	C	T	17078626	3	4	17	1	0	0	0	0	1	0	0	0	9752	797	28	3	2683	3	MPRIP	17	17078626	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08		17078626	64116584	77	1200										
RHBDL3	162494	broad.mit.edu	37	chr17	30611720	30611720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	acattagcacaggcaagttcCggagtcttctggagagccac	11	11	2	1			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:30611720C>T	ENST00000269051.4	+	3	192	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	RHBDL3_ENST00000538145.1_Missense_Mutation_p.R52W|RHBDL3_ENST00000536287.1_Intron	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	60	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				AGGCAAGTTCCGGAGTCTTCT	0.592																																						ENST00000269051.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(178-180)Cgg>Tgg		rhomboid, veinlet-like 3 (Drosophila)							80	72	75					17																	30611720		2203	4300	6503	SO:0001583	missense	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30611720C>T	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"EF-hand domain containing"	16502	protein-coding gene	gene with protein product			"rhomboid, veinlet-like 4 (Drosophila)"	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.178C>T	17.37:g.30611720C>T	ENSP00000269051:p.Arg60Trp		Somatic				RHBDL3_ENST00000536287.1_Intron|RHBDL3_ENST00000538145.1_Missense_Mutation_p.R52W	p.R60W	NM_138328.2	NP_612201.1	WXS	Illumina GAIIx	Phase_I	P58872	RHBL3_HUMAN			3	192	+		Breast(31;0.116)|Ovarian(249;0.182)	60			EF-hand 1.		A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	c.178C>T	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487431	0.63962	.	.	ENSG00000141314	ENST00000431505;ENST00000269051;ENST00000538145	T;T;T	0.73047	-0.71;-0.71;0.73	4.59	3.61	0.41365	EF-hand-like domain (1);	0.064498	0.64402	D	0.000010	T	0.80649	0.4663	M	0.75085	2.285	0.80722	D	1	P;D;D	0.89917	0.67;1.0;1.0	B;D;D	0.75484	0.165;0.965;0.986	T	0.80725	-0.1254	10	0.72032	D	0.01	-41.2652	7.9033	0.29746	0.1611:0.7584:0.0:0.0804	.	60;52;60	E9PD28;Q495Y5;P58872	.;.;RHBL3_HUMAN	W	60;60;52	ENSP00000394849:R60W;ENSP00000269051:R60W;ENSP00000442092:R52W	ENSP00000269051:R60W	R	+	1	2	RHBDL3	27635833	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	3.000000	0.49481	1.140000	0.42260	0.563000	0.77884	CGG		0.592	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		21	31	0	0	0	1	0	21	31					T	30611720	C	T	30611720	3	4	17	1	0	0	0	0	1	0	0	0	13338	643	23	1	188	1	RHBDL3	17	30611720	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	13533094	30611720	50583490	78	1201										
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	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gtgtttgtgcccagaatgttAaatttccgggatctgaatca	10	7	2	2			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:40481653A>C	ENST00000264657.5	-	13	1464	c.1152T>G	c.(1150-1152)ttT>ttG	p.F384L	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	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_ENST00000585517.1_Missense_Mutation_p.F384L|STAT3_ENST00000404395.3_Missense_Mutation_p.F384L|STAT3_ENST00000588969.1_Missense_Mutation_p.F384L	p.F384L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	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		36	39	0	0	0	1	0	36	39					C	40481653	A	C	40481653	3	2	17	1	0	0	0	0	1	0	0	0	15281	359	13	4	1208	4	STAT3	17	40481653	Missense_Mutation	SNP	A	TCGA-N6-A4VD-01A-11D-A28R-08	9869933	40481653	40713557	79	1202										
NSF	4905	broad.mit.edu	37	chr17	44782178	44782178	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gcagaaagcctgcaagtgacGagaggagacttccttgcttc	12	10	0	4			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:44782178G>A	ENST00000398238.4	+	13	1535	c.1428G>A	c.(1426-1428)acG>acA	p.T476T	NSF_ENST00000575068.1_Silent_p.T471T|NSF_ENST00000225282.8_Silent_p.T382T	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	476			T -> M (in dbSNP:rs155733).		exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TGCAAGTGACGAGAGGAGACT	0.383																																					Ovarian(25;472 742 1472 36813 50223)	ENST00000398238.4																			0				kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1426-1428)acG>acA		N-ethylmaleimide-sensitive factor							137	150	146					17																	44782178		1888	4129	6017	SO:0001819	synonymous_variant	4905				protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	g.chr17:44782178G>A		CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"ATPases / AAA-type"	8016	protein-coding gene	gene with protein product	"N-ethylmaleimide-sensitive factor-like protein"	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1428G>A	17.37:g.44782178G>A			Somatic				NSF_ENST00000225282.8_Silent_p.T382T|NSF_ENST00000575068.1_Silent_p.T471T	p.T476T	NM_006178.3	NP_006169.2	WXS	Illumina GAIIx	Phase_I	P46459	NSF_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)	13	1535	+		Melanoma(429;0.203)	476		T -> M (in dbSNP:rs155733).			A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Silent	SNP	ENST00000398238.4	37	c.1428G>A	CCDS42354.1																																																																																				0.383	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259348.2	NM_006178		21	34	0	0	0	1	0	21	34					A	44782178	G	A	44782178	2	1	17	1	0	0	0	0	0	0	0	1	10680	1045	37	1		1	NSF	17	44782178	Silent	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	4300525	44782178	36413032	80	1203										
PGS1	9489	broad.mit.edu	37	chr17	76395556	76395556	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ctcatccctgagcgcttcaaCgagaccatcggcctccagca	8	17	2	2			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:76395556C>T	ENST00000262764.6	+	5	665	c.639C>T	c.(637-639)aaC>aaT	p.N213N	PGS1_ENST00000329897.7_Silent_p.N78N|PGS1_ENST00000588281.1_3'UTR|SNORA30_ENST00000363193.1_RNA	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	213					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			AGCGCTTCAACGAGACCATCG	0.607																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000262764.6																			0				cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(637-639)aaC>aaT		phosphatidylglycerophosphate synthase 1							94	98	97					17																	76395556		2148	4240	6388	SO:0001819	synonymous_variant	9489				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity	g.chr17:76395556C>T		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.639C>T	17.37:g.76395556C>T			Somatic				PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Silent_p.N78N	p.N213N	NM_024419.3	NP_077733.3	WXS	Illumina GAIIx	Phase_I	Q32NB8	PGPS1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)		5	665	+			213					B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Silent	SNP	ENST00000262764.6	37	c.639C>T	CCDS42391.1																																																																																				0.607	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		38	60	0	0	0	1	0	38	60					T	76395556	C	T	76395556	2	4	17	1	0	0	0	0	0	0	0	1	11817	535	19	1		1	PGS1	17	76395556	Silent	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	31613378	76395556	4799654	81	1204										
KIAA1632	57724	broad.mit.edu	37	chr18	43437926	43437926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	tctgaaccaagagcagaattCgaatgacagattctgtcagg	10	8	3	5			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr18:43437926C>T	ENST00000282041.5	-	42	7368	c.7334G>A	c.(7333-7335)cGa>cAa	p.R2445Q	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2445					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						GAGCAGAATTCGAATGACAGA	0.537																																						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.(7333-7335)cGa>cAa		ectopic P-granules autophagy protein 5 homolog (C. elegans)							72	74	74					18																	43437926		1931	4143	6074	SO:0001583	missense	57724				autophagy			g.chr18:43437926C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.7334G>A	18.37:g.43437926C>T	ENSP00000282041:p.Arg2445Gln		Somatic				EPG5_ENST00000585906.1_5'UTR	p.R2445Q	NM_020964.2	NP_066015.2	WXS	Illumina GAIIx	Phase_I	Q9HCE0	EPG5_HUMAN			42	7368	-			2445					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.7334G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401899	0.62288	.	.	ENSG00000152223	ENST00000282041;ENST00000540322;ENST00000308403	T	0.10573	2.86	5.64	4.77	0.60923	.	.	.	.	.	T	0.13884	0.0336	L	0.59436	1.845	0.40571	D	0.981303	B	0.22480	0.07	B	0.12837	0.008	T	0.02138	-1.1207	9	0.52906	T	0.07	-2.3657	14.3436	0.66643	0.0:0.9288:0.0:0.0712	.	2445	Q9HCE0	EPG5_HUMAN	Q	2445;373;1320	ENSP00000282041:R2445Q	ENSP00000282041:R2445Q	R	-	2	0	EPG5	41691924	0.962000	0.33011	0.859000	0.33776	0.943000	0.58893	2.057000	0.41365	1.388000	0.46506	0.561000	0.74099	CGA		0.537	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		21	34	0	0	0	1	0	21	34					T	43437926	C	T	43437926	3	4	17	1	0	0	0	0	1	0	0	0	8258	884	31	1	417	1	KIAA1632	18	43437926	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08		43437926	34639322	82	1205										
CD226	10666	broad.mit.edu	37	chr18	67563152	67563152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	aagttaagaggtcgatctgaCggggctggatcttttcccac	12	9	2	2	rs79158855	byFrequency	TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr18:67563152C>T	ENST00000280200.4	-	4	780	c.512G>A	c.(511-513)cGt>cAt	p.R171H	CD226_ENST00000577287.1_Missense_Mutation_p.R16H|CD226_ENST00000582621.1_Missense_Mutation_p.R171H|CD226_ENST00000581982.1_Missense_Mutation_p.R16H	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	171	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GTCGATCTGACGGGGCTGGAT	0.512													C|||	4	0.000798722	0	0	5008	,	,		18360	0.002		0.001	False		,,,				2504	0.001				NSCLC(184;838 2130 8673 21498 50749)	ENST00000280200.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24						c.(511-513)cGt>cAt		CD226 molecule		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	121	105	110		512	2.4	1	18	dbSNP_133	110	24,8576	17.3+/-56.4	0,24,4276	yes	missense	CD226	NM_006566.2	29	0,25,6478	TT,TC,CC		0.2791,0.0227,0.1922	benign	171/337	67563152	25,12981	2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67563152C>T	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	16961	protein-coding gene	gene with protein product		605397	"CD226 antigen"			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.512G>A	18.37:g.67563152C>T	ENSP00000280200:p.Arg171His		Somatic				CD226_ENST00000577287.1_Missense_Mutation_p.R16H|CD226_ENST00000581982.1_Missense_Mutation_p.R16H|CD226_ENST00000582621.1_Missense_Mutation_p.R171H	p.R171H	NM_006566.2	NP_006557.2	WXS	Illumina GAIIx	Phase_I	Q15762	CD226_HUMAN			4	780	-		Esophageal squamous(42;0.129)	171			Ig-like C2-type 2.		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.512G>A	CCDS11997.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	0.028	-1.353444	0.01256	2.27E-4	0.002791	ENSG00000150637	ENST00000280200	T	0.22336	1.96	4.82	2.4	0.29515	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.375068	0.29551	N	0.011836	T	0.03263	0.0095	N	0.00146	-1.995	0.21499	N	0.999668	B	0.02656	0.0	B	0.01281	0.0	T	0.43081	-0.9413	10	0.02654	T	1	.	7.6051	0.28097	0.0:0.1401:0.0:0.8599	.	171	Q15762	CD226_HUMAN	H	171	ENSP00000280200:R171H	ENSP00000280200:R171H	R	-	2	0	CD226	65714132	0.999000	0.42202	0.969000	0.41365	0.311000	0.27955	0.888000	0.28268	0.393000	0.25203	-1.352000	0.01234	CGT		0.512	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		26	28	0	0	0	1	0	26	28					T	67563152	C	T	67563152	3	4	17	1	0	0	0	0	1	0	0	0	2988	536	19	1	514	1	CD226	18	67563152	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	24125226	67563152	10514096	83	1206										
ADAT3	113179	broad.mit.edu	37	chr19	1912242	1912242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	tgctggcctacgccgcgcccGtcctggacaagcgccagacc	12	18	0	1			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:1912242G>A	ENST00000602400.1	+	2	376	c.148G>A	c.(148-150)Gtc>Atc	p.V50I	ADAT3_ENST00000329478.2_Missense_Mutation_p.V66I|SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000316097.8_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	50					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCGCGCCCGTCCTGGACAA	0.736																																						ENST00000329478.2																			0				breast(1)|kidney(3)|pancreas(1)|skin(2)	7						c.(196-198)Gtc>Atc		adenosine deaminase, tRNA-specific 3							12	13	12					19																	1912242		2182	4266	6448	SO:0001583	missense	113179				tRNA processing		hydrolase activity|zinc ion binding	g.chr19:1912242G>A	BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"	615302	"adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	ENST00000602400.1:c.148G>A	19.37:g.1912242G>A	ENSP00000473571:p.Val50Ile		Somatic				ADAT3_ENST00000602400.1_Missense_Mutation_p.V50I|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000316097.8_Intron	p.V66I			WXS	Illumina GAIIx	Phase_I	Q96EY9	ADAT3_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	416	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	50						Missense_Mutation	SNP	ENST00000602400.1	37	c.196G>A		.	.	.	.	.	.	.	.	.	.	g	0.014	-1.582125	0.00879	.	.	ENSG00000213638	ENST00000329478;ENST00000454697	.	.	.	4.96	0.854	0.19007	.	0.189861	0.44483	N	0.000454	T	0.20210	0.0486	N	0.20685	0.6	0.22975	N	0.998488	B	0.18461	0.028	B	0.08055	0.003	T	0.30621	-0.9972	9	0.02654	T	1	-33.9264	9.5985	0.39589	0.3943:0.0:0.6057:0.0	.	50	Q96EY9	ADAT3_HUMAN	I	50	.	ENSP00000332448:V50I	V	+	1	0	ADAT3	1863242	0.094000	0.21725	0.010000	0.14722	0.098000	0.18820	0.547000	0.23299	0.088000	0.17205	-0.829000	0.03081	GTC		0.736	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_138422		8	7	0	0	0	1	0	8	7					A	1912242	G	A	1912242	3	1	17	1	0	0	0	0	1	0	0	0	286	1145	40	1	150	1	ADAT3	19	1912242	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08		1912242	57216741	84	1207										
OCEL1	79629	broad.mit.edu	37	chr19	17338751	17338751	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ctccagcacgaggtggggtgTgcacaggcaaagctcaggca	15	11	1	0			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:17338751T>C	ENST00000215061.4	+	4	599	c.555T>C	c.(553-555)tgT>tgC	p.C185C	OCEL1_ENST00000601529.1_Intron|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000597836.1_Silent_p.C129C	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	185										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						AGGTGGGGTGTGCACAGGCAA	0.637																																						ENST00000215061.4																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						c.(553-555)tgT>tgC		occludin/ELL domain containing 1							83	76	79					19																	17338751		2203	4300	6503	SO:0001819	synonymous_variant	79629							g.chr19:17338751T>C	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.555T>C	19.37:g.17338751T>C			Somatic				OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000597836.1_Silent_p.C129C|OCEL1_ENST00000601529.1_Intron	p.C185C	NM_024578.1	NP_078854.1	WXS	Illumina GAIIx	Phase_I	Q9H607	OCEL1_HUMAN			4	599	+			185						Silent	SNP	ENST00000215061.4	37	c.555T>C	CCDS12351.1																																																																																				0.637	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		25	46	0	0	0	1	0	25	46					C	17338751	T	C	17338751	2	2	17	1	0	0	0	0	0	0	0	1	10825	1702	59	4		4	OCEL1	19	17338751	Silent	SNP	T	TCGA-N6-A4VD-01A-11D-A28R-08	15426509	17338751	41790232	85	1208										
AXL	558	broad.mit.edu	37	chr19	41743930	41743930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ccctcacctcgcaagcatccGtgcccccccatcagcttcgg	7	21	2	0	rs141302305	byFrequency	TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:41743930G>A	ENST00000301178.4	+	7	1055	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	AXL_ENST00000359092.3_Missense_Mutation_p.V289M|AXL_ENST00000593513.1_Missense_Mutation_p.V21M	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	289	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V289M(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCAAGCATCCGTGCCCCCCCA	0.647																																						ENST00000301178.4																			2	Substitution - Missense(2)	p.V289M(2)	prostate(1)|stomach(1)	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.(865-867)Gtg>Atg		AXL receptor tyrosine kinase		G	MET/VAL,MET/VAL	0,4406		0,0,2203	96	98	98		865,865	4.3	0.9	19	dbSNP_134	98	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	AXL	NM_001699.4,NM_021913.3	21,21	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	289/886,289/895	41743930	3,13003	2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41743930G>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.865G>A	19.37:g.41743930G>A	ENSP00000301178:p.Val289Met		Somatic				AXL_ENST00000359092.3_Missense_Mutation_p.V289M|AXL_ENST00000593513.1_Missense_Mutation_p.V21M	p.V289M	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	WXS	Illumina GAIIx	Phase_I	P30530	UFO_HUMAN			7	1055	+			289			Fibronectin type-III 1.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.865G>A	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	g	16.06	3.015400	0.54468	0.0	3.49E-4	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.61392	0.11;0.11	4.26	4.26	0.50523	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.168793	0.38959	U	0.001507	T	0.70176	0.3194	M	0.63843	1.955	0.36831	D	0.886874	D;D	0.76494	0.998;0.999	P;D	0.63877	0.868;0.919	T	0.77534	-0.2552	10	0.66056	D	0.02	-16.2581	14.0204	0.64550	0.0:0.0:1.0:0.0	.	289;289	P30530-2;P30530	.;UFO_HUMAN	M	289	ENSP00000301178:V289M;ENSP00000351995:V289M	ENSP00000301178:V289M	V	+	1	0	AXL	46435770	1.000000	0.71417	0.912000	0.35992	0.356000	0.29392	4.037000	0.57311	2.347000	0.79759	0.448000	0.29417	GTG		0.647	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			43	67	0	0	0	1	0	43	67					A	41743930	G	A	41743930	3	1	17	1	0	0	0	0	1	0	0	0	1238	1145	40	1	891	1	AXL	19	41743930	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	24405179	41743930	17385053	86	1209										
CIC	23152	broad.mit.edu	37	chr19	42794634	42794634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gcagcacagcgggccccctaCggcccccaccccctggggct	12	21	0	0			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:42794634C>T	ENST00000575354.2	+	10	1754	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	CIC_ENST00000160740.3_Missense_Mutation_p.R572W|CIC_ENST00000572681.2_Missense_Mutation_p.R1481W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	572	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGCCCCCTACGGCCCCCACC	0.672			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(4441-4443)Cgg>Tgg		capicua transcriptional repressor							34	41	39					19																	42794634		2202	4297	6499	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42794634C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1714C>T	19.37:g.42794634C>T	ENSP00000458663:p.Arg572Trp		Somatic				CIC_ENST00000160740.3_Missense_Mutation_p.R572W|CIC_ENST00000575354.2_Missense_Mutation_p.R572W	p.R1481W			WXS	Illumina GAIIx	Phase_I	Q96RK0	CIC_HUMAN			11	4509	+		Prostate(69;0.00682)	572					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.4441C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431486	0.25813	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.98	3.94	0.45596	.	.	.	.	.	T	0.27205	0.0667	N	0.08118	0	0.29984	N	0.817473	D	0.69078	0.997	P	0.50378	0.639	T	0.11179	-1.0598	8	0.87932	D	0	-16.2908	9.5826	0.39497	0.0:0.9014:0.0:0.0986	.	572	Q96RK0	CIC_HUMAN	W	572	.	ENSP00000160740:R572W	R	+	1	2	CIC	47486474	0.976000	0.34144	0.828000	0.32881	0.359000	0.29487	2.523000	0.45580	1.236000	0.43740	0.491000	0.48974	CGG		0.672	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			35	50	0	0	0	1	0	35	50					T	42794634	C	T	42794634	3	4	17	1	0	0	0	0	1	0	0	0	3426	527	19	1	1752	1	CIC	19	42794634	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	1050704	42794634	16334349	87	1210										
PPP2R1A	5518	broad.mit.edu	37	chr19	52716212	52716212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cctctcctctccctaggactCggtgcggctgctggcggtgg	14	15	2	0			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:52716212C>T	ENST00000322088.6	+	6	714	c.656C>T	c.(655-657)tCg>tTg	p.S219L	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S164L|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S40L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	219	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CCCTAGGACTCGGTGCGGCTG	0.647			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(655-657)tCg>tTg		protein phosphatase 2, regulatory subunit A, alpha							40	39	39					19																	52716212		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52716212C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.656C>T	19.37:g.52716212C>T	ENSP00000324804:p.Ser219Leu		Somatic				PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S164L|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S40L	p.S219L	NM_014225.5	NP_055040.2	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	6	714	+			219			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.656C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974548	0.92919	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.05580	3.42;3.42	4.59	4.59	0.56863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.51477	D	0.000081	T	0.32645	0.0836	M	0.93550	3.43	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;P;P	0.66602	0.945;0.608;0.608	T	0.43556	-0.9384	10	0.87932	D	0	-12.1764	15.3348	0.74244	0.0:1.0:0.0:0.0	.	164;219;219	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	L	209;139;219;164	ENSP00000324804:S219L;ENSP00000415067:S164L	ENSP00000324804:S219L	S	+	2	0	PPP2R1A	57408024	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	4.989000	0.63870	2.550000	0.86006	0.655000	0.94253	TCG		0.647	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		22	22	0	0	0	1	0	22	22					T	52716212	C	T	52716212	3	4	17	1	0	0	0	0	1	0	0	0	12394	893	31	1	678	1	PPP2R1A	19	52716212	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	9921578	52716212	6412771	88	1211										
EPS8L1	54869	broad.mit.edu	37	chr19	55593930	55593930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	acgtcactccacgtgaaaacGagctctggacctcgctgggg	12	13	2	1			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:55593930G>A	ENST00000201647.6	+	12	1230	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	EPS8L1_ENST00000588359.1_Missense_Mutation_p.E46K|EPS8L1_ENST00000540810.1_Missense_Mutation_p.E328K|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E265K|EPS8L1_ENST00000586329.1_Missense_Mutation_p.E374K	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	392					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)		ACGTGAAAACGAGCTCTGGAC	0.697																																					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.(1174-1176)Gag>Aag		EPS8-like 1							10	9	10					19																	55593930		2174	4257	6431	SO:0001583	missense	54869					cytoplasm		g.chr19:55593930G>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.1174G>A	19.37:g.55593930G>A	ENSP00000201647:p.Glu392Lys		Somatic				EPS8L1_ENST00000586329.1_Missense_Mutation_p.E374K|EPS8L1_ENST00000540810.1_Missense_Mutation_p.E328K|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E265K|EPS8L1_ENST00000588359.1_Missense_Mutation_p.E46K	p.E392K	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)	12	1230	+			392					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.1174G>A	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016000	0.35606	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.21543	2.0;2.0;2.0	4.05	1.77	0.24775	.	0.844353	0.10478	N	0.669992	T	0.12433	0.0302	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.32382	0.004;0.031;0.334;0.062;0.368	B;B;B;B;B	0.25759	0.002;0.007;0.063;0.027;0.017	T	0.25433	-1.0132	10	0.30854	T	0.27	-3.4601	5.8649	0.18768	0.1111:0.0:0.6999:0.189	.	328;374;139;265;392	B4DKV7;Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;.;ES8L1_HUMAN	K	374;392;328;265;46	ENSP00000201647:E392K;ENSP00000437541:E328K;ENSP00000245618:E265K	ENSP00000201647:E392K	E	+	1	0	EPS8L1	60285742	0.000000	0.05858	0.001000	0.08648	0.849000	0.48306	-0.027000	0.12371	0.413000	0.25759	0.561000	0.74099	GAG		0.697	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		6	10	0	0	0	1	0	6	10					A	55593930	G	A	55593930	3	1	17	1	0	0	0	0	1	0	0	0	5197	1059	37	1	1268	1	EPS8L1	19	55593930	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	2877718	55593930	3535053	89	1212										
NLRP5	126206	broad.mit.edu	37	chr19	56569658	56569658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gtgaggcactctccttggccCtttcctgcaaccggcatctg	10	15	2	1			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:56569658C>T	ENST00000390649.3	+	14	3352	c.3352C>T	c.(3352-3354)Ctt>Ttt	p.L1118F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1118					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.L1118I(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		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCCTTGGCCCTTTCCTGCAA	0.517																																						ENST00000390649.3																			1	Substitution - Missense(1)	p.L1118I(1)	kidney(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.(3352-3354)Ctt>Ttt		NLR family, pyrin domain containing 5							167	163	164					19																	56569658		2046	4201	6247	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56569658C>T	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.3352C>T	19.37:g.56569658C>T	ENSP00000375063:p.Leu1118Phe		Somatic					p.L1118F	NM_153447.4	NP_703148.4	WXS	Illumina GAIIx	Phase_I	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	14	3352	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	1118					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.3352C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297769	0.40694	.	.	ENSG00000171487	ENST00000390649	T	0.61859	0.07	3.36	1.15	0.20763	.	0.629085	0.12181	N	0.492089	T	0.70141	0.3190	M	0.83223	2.63	0.09310	N	1	D	0.69078	0.997	D	0.65443	0.935	T	0.55903	-0.8067	10	0.46703	T	0.11	.	3.8696	0.09031	0.2575:0.6122:0.0:0.1303	.	1118	P59047	NALP5_HUMAN	F	1118	ENSP00000375063:L1118F	ENSP00000375063:L1118F	L	+	1	0	NLRP5	61261470	0.030000	0.19436	0.016000	0.15963	0.007000	0.05969	0.605000	0.24179	0.390000	0.25115	0.561000	0.74099	CTT		0.517	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		23	32	0	0	0	1	0	23	32					T	56569658	C	T	56569658	3	4	17	1	0	0	0	0	1	0	0	0	10489	681	24	3	3406	3	NLRP5	19	56569658	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	975728	56569658	2559325	90	1213										
CDH26	60437	broad.mit.edu	37	chr20	58569315	58569315	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cccatacaaggcttcccaccGcagactgctacagggaccct	8	17	0	1			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr20:58569315G>T	ENST00000244047.5	+	11	1748	c.1437G>T	c.(1435-1437)ccG>ccT	p.P479P	CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000348616.4_Silent_p.P479P			Q8IXH8	CAD26_HUMAN	cadherin 26	479	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.		P -> L (in dbSNP:rs6071067).		homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P479P(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GCTTCCCACCGCAGACTGCTA	0.517																																						ENST00000348616.4																			2	Substitution - coding silent(2)	p.P479P(2)	large_intestine(2)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1435-1437)ccG>ccT		cadherin 26							86	75	79					20																	58569315		2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58569315G>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1437G>T	20.37:g.58569315G>T			Somatic				CDH26_ENST00000244047.5_Silent_p.P479P|CDH26_ENST00000497614.1_3'UTR	p.P479P	NM_177980.2	NP_817089.1	WXS	Illumina GAIIx	Phase_I	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		11	1737	+	all_lung(29;0.00963)		479		P -> L (in dbSNP:rs6071067).	Cadherin 4.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.1437G>T		.	.	.	.	.	.	.	.	.	.	G	3.514	-0.099088	0.07010	.	.	ENSG00000124215	ENST00000370991	.	.	.	4.4	-8.8	0.00817	.	.	.	.	.	T	0.28067	0.0692	.	.	.	0.21020	N	0.99981	.	.	.	.	.	.	T	0.32375	-0.9909	4	.	.	.	.	10.5674	0.45181	0.5324:0.121:0.3466:0.0	.	.	.	.	L	71	.	.	R	+	2	0	CDH26	58002710	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-7.240000	0.00041	-2.175000	0.00771	-1.619000	0.00793	CGC		0.517	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		25	34	1	0	9.04412e-07	1	9.28005e-07	25	34					T	58569315	G	T	58569315	2	4	17	1	0	0	0	0	0	0	0	1	3112	1074	38	5		5	CDH26	20	58569315	Silent	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08		58569315	4456205	91	1214										
PLXNB2	23654	broad.mit.edu	37	chr22	50728775	50728775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	actggctggcctcgatgggcGgcgtgcacttcttgttgtcc	14	12	1	0			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr22:50728775G>A	ENST00000449103.1	-	3	379	c.239C>T	c.(238-240)cCg>cTg	p.P80L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P80L			O15031	PLXB2_HUMAN	plexin B2	80	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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.P123L(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)		CTCGATGGGCGGCGTGCACTT	0.652																																						ENST00000449103.1																			1	Substitution - Missense(1)	p.P123L(1)	lung(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.(238-240)cCg>cTg		plexin B2							37	45	42					22																	50728775		2091	4220	6311	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728775G>A		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.239C>T	22.37:g.50728775G>A	ENSP00000409171:p.Pro80Leu		Somatic				PLXNB2_ENST00000359337.4_Missense_Mutation_p.P80L	p.P80L			WXS	Illumina GAIIx	Phase_I	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	379	-		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)	80			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.239C>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884455	0.72410	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455;ENST00000425954	T;T;T;T	0.04862	3.54;3.54;3.54;3.54	4.08	4.08	0.47627	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.50627	D	0.000119	T	0.30039	0.0752	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.30357	-0.9981	10	0.72032	D	0.01	.	16.4766	0.84134	0.0:0.0:1.0:0.0	.	80	O15031	PLXB2_HUMAN	L	80	ENSP00000409171:P80L;ENSP00000352288:P80L;ENSP00000392620:P80L;ENSP00000387470:P80L	ENSP00000352288:P80L	P	-	2	0	PLXNB2	49070902	1.000000	0.71417	0.427000	0.26684	0.500000	0.33767	9.108000	0.94275	2.110000	0.64415	0.561000	0.74099	CCG		0.652	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		20	6	0	0	0	1	0	20	6					A	50728775	G	A	50728775	3	1	17	1	0	0	0	0	1	0	0	0	12133	1116	39	1	5417	1	PLXNB2	22	50728775	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08		50728775	575791	92	1215										
MAGEB6	158809	broad.mit.edu	37	chrX	26212339	26212339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	tttcaggctcaaaatatgatGtggctgccaacggccaagat	10	9	2	2	rs376873999		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:26212339G>A	ENST00000379034.1	+	2	525	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	126	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AAAATATGATGTGGCTGCCAA	0.557																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(376-378)Gtg>Atg		melanoma antigen family B, 6		G	MET/VAL	1,3832		0,0,1,1631,570	85	77	80		376	1.1	0	X		80	0,6728		0,0,0,2428,1872	no	missense	MAGEB6	NM_173523.2	21	0,0,1,4059,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	benign	126/408	26212339	1,10560	2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212339G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.376G>A	X.37:g.26212339G>A	ENSP00000368320:p.Val126Met		Somatic					p.V126M	NM_173523.2	NP_775794.2	WXS	Illumina GAIIx	Phase_I	Q8N7X4	MAGB6_HUMAN			2	525	+			126			Ser-rich.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.376G>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	4.685	0.127426	0.08981	2.61E-4	0.0	ENSG00000176746	ENST00000379034	T	0.01933	4.55	1.11	1.11	0.20524	.	.	.	.	.	T	0.01695	0.0054	N	0.24115	0.695	0.09310	N	1	B	0.18013	0.025	B	0.06405	0.002	T	0.46331	-0.9199	9	0.33141	T	0.24	.	5.2065	0.15293	0.0:0.0:1.0:0.0	.	126	Q8N7X4	MAGB6_HUMAN	M	126	ENSP00000368320:V126M	ENSP00000368320:V126M	V	+	1	0	MAGEB6	26122260	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.044000	0.12023	0.832000	0.34804	0.363000	0.22086	GTG		0.557	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		48	71	0	0	0	1	0	48	71					A	26212339	G	A	26212339	3	1	17	1	0	0	0	0	1	0	0	0	9188	1377	48	3	378	3	MAGEB6	23	26212339	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08		26212339	129058221	93	1216										
TAB3	257397	broad.mit.edu	37	chrX	30872877	30872877	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gctgtggagagctgaagggtGaaggacattgagaaggaggt	19	3	0	4			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:30872877G>A	ENST00000378933.1	-	3	1082	c.905C>T	c.(904-906)tCa>tTa	p.S302L	TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378932.2_Missense_Mutation_p.S302L|TAB3_ENST00000288422.2_Missense_Mutation_p.S302L|TAB3_ENST00000378930.3_Missense_Mutation_p.S302L|TAB3_ENST00000378928.1_5'Flank	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	302	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|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 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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GCTGAAGGGTGAAGGACATTG	0.488																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(904-906)tCa>tTa		TGF-beta activated kinase 1/MAP3K7 binding protein 3							139	100	113					X																	30872877		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK 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|plasma membrane	protein binding|zinc ion binding	g.chrX:30872877G>A	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.905C>T	X.37:g.30872877G>A	ENSP00000368215:p.Ser302Leu		Somatic				TAB3_ENST00000288422.2_Missense_Mutation_p.S302L|TAB3_ENST00000378932.2_Missense_Mutation_p.S302L|TAB3_ENST00000378930.3_Missense_Mutation_p.S302L	p.S302L	NM_152787.3	NP_690000.2	WXS	Illumina GAIIx	Phase_I	Q8N5C8	TAB3_HUMAN			3	1082	-			302			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.905C>T	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661787	0.67700	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.77491	0.4138	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.987	T	0.78942	-0.2005	10	0.40728	T	0.16	-3.5792	17.2927	0.87162	0.0:0.0:1.0:0.0	.	302;302	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	L	302	ENSP00000368215:S302L;ENSP00000368212:S302L;ENSP00000288422:S302L;ENSP00000368214:S302L	ENSP00000288422:S302L	S	-	2	0	TAB3	30782798	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.879000	0.92398	2.095000	0.63458	0.538000	0.68166	TCA		0.488	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		21	18	0	0	0	1	0	21	18					A	30872877	G	A	30872877	3	1	17	1	0	0	0	0	1	0	0	0	15512	1294	45	3	1257	3	TAB3	23	30872877	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	4660538	30872877	124397683	94	1217										
SUV39H1	6839	broad.mit.edu	37	chrX	48558921	48558921	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cccgggggcgtcactgcacaAgtttgcctacaatgaccagg	12	13	1	1			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:48558921A>C	ENST00000376687.3	+	3	795	c.605A>C	c.(604-606)aAg>aCg	p.K202T	SUV39H1_ENST00000337852.6_Missense_Mutation_p.K213T|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Intron	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	202	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TCACTGCACAAGTTTGCCTAC	0.652																																						ENST00000376687.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(604-606)aAg>aCg		suppressor of variegation 3-9 homolog 1 (Drosophila)							54	46	49					X																	48558921		2203	4299	6502	SO:0001583	missense	6839				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	g.chrX:48558921A>C	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"Chromatin-modifying enzymes / K-methyltransferases"	11479	protein-coding gene	gene with protein product		300254	"suppressor of variegation 3-9 (Drosophila) homolog 1"	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.605A>C	X.37:g.48558921A>C	ENSP00000365877:p.Lys202Thr		Somatic				SUV39H1_ENST00000337852.6_Missense_Mutation_p.K213T|SUV39H1_ENST00000453214.2_Intron|AF196970.3_ENST00000416061.1_RNA	p.K202T	NM_003173.2	NP_003164.1	WXS	Illumina GAIIx	Phase_I	O43463	SUV91_HUMAN			3	795	+			202			Pre-SET.		B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	ENST00000376687.3	37	c.605A>C	CCDS14304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.38|15.38	2.815388|2.815388	0.50527|0.50527	.|.	.|.	ENSG00000101945|ENSG00000101945	ENST00000337852;ENST00000376687;ENST00000422496|ENST00000448548	T;T|.	0.76968|.	-1.06;-1.06|.	5.06|5.06	5.06|5.06	0.68205|0.68205	Pre-SET zinc-binding sub-group (1);Pre-SET domain (2);|.	0.077844|.	0.53938|.	D|.	0.000049|.	T|T	0.58680|0.58680	0.2139|0.2139	L|L	0.53729|0.53729	1.69|1.69	0.80722|0.80722	D|D	1|1	B;B|.	0.12630|.	0.006;0.006|.	B;B|.	0.18263|.	0.021;0.02|.	T|T	0.53627|0.53627	-0.8412|-0.8412	10|6	0.15952|0.15952	T|T	0.53|0.53	.|.	11.7346|11.7346	0.51757|0.51757	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	213;202|.	B4DST0;O43463|.	.;SUV91_HUMAN|.	T|R	213;202;60|199	ENSP00000337976:K213T;ENSP00000365877:K202T|.	ENSP00000337976:K213T|ENSP00000410043:S199R	K|S	+|+	2|1	0|0	SUV39H1|SUV39H1	48443865|48443865	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	1.486000|1.486000	0.35530|0.35530	1.671000|1.671000	0.50874|0.50874	0.478000|0.478000	0.44815|0.44815	AAG|AGT		0.652	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		22	46	0	0	0	1	0	22	46					C	48558921	A	C	48558921	3	2	17	1	0	0	0	0	1	0	0	0	15427	72	3	4	615	4	SUV39H1	23	48558921	Missense_Mutation	SNP	A	TCGA-N6-A4VD-01A-11D-A28R-08	17686044	48558921	106711639	95	1218										
SLC35A2	7355	broad.mit.edu	37	chrX	48762195	48762195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gaggtagacagcaccaatgaCgagtccagcgccaagggcaa	13	11	0	2			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:48762195C>T	ENST00000247138.5	-	4	994	c.991G>A	c.(991-993)Gtc>Atc	p.V331I	SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000413561.2_Missense_Mutation_p.V270I|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000452555.2_Missense_Mutation_p.V359I|SLC35A2_ENST00000376521.1_Missense_Mutation_p.V331I|SLC35A2_ENST00000376515.3_Intron	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	331			V -> I (in CDG2M). {ECO:0000269|PubMed:23561849}.		galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GCACCAATGACGAGTCCAGCG	0.612																																						ENST00000376521.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						c.(991-993)Gtc>Atc		solute carrier family 35 (UDP-galactose transporter), member A2							69	54	59					X																	48762195		2203	4300	6503	SO:0001583	missense	7355				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	g.chrX:48762195C>T	D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"Solute carriers"	11022	protein-coding gene	gene with protein product		314375	"solute carrier family 35 (UDP-galactose transporter), member 2"	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.991G>A	X.37:g.48762195C>T	ENSP00000247138:p.Val331Ile		Somatic				SLC35A2_ENST00000413561.2_Missense_Mutation_p.V270I|SLC35A2_ENST00000247138.5_Missense_Mutation_p.V331I|SLC35A2_ENST00000452555.2_Missense_Mutation_p.V359I|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376529.3_Intron	p.V331I	NM_001042498.2	NP_001035963.1	WXS	Illumina GAIIx	Phase_I	P78381	S35A2_HUMAN			4	1312	-			331					A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	ENST00000247138.5	37	c.991G>A	CCDS14311.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370824	0.82573	.	.	ENSG00000102100	ENST00000247138;ENST00000376521;ENST00000413561;ENST00000452555	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	T	0.77075	0.4077	M	0.81614	2.55	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.998	D;D;D;D;D	0.91635	0.972;0.999;0.999;0.999;0.956	T	0.79981	-0.1574	10	0.62326	D	0.03	-24.2404	15.1454	0.72647	0.0:1.0:0.0:0.0	.	270;359;344;331;331	B4DE11;E7EW45;B4DE15;P78381-2;P78381	.;.;.;.;S35A2_HUMAN	I	331;331;270;359	ENSP00000247138:V331I;ENSP00000365704:V331I;ENSP00000393233:V270I;ENSP00000416002:V359I	ENSP00000247138:V331I	V	-	1	0	SLC35A2	48647139	0.999000	0.42202	0.941000	0.38009	0.993000	0.82548	4.194000	0.58393	2.280000	0.76307	0.600000	0.82982	GTC		0.612	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660		10	20	0	0	0	1	0	10	20					T	48762195	C	T	48762195	3	4	17	1	0	0	0	0	1	0	0	0	14586	536	19	1	363	1	SLC35A2	23	48762195	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	203274	48762195	106508365	96	1219										
RRAGB	10325	broad.mit.edu	37	chrX	55757849	55757849	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gccaacgggacaacatcttcCgaaatgtggaggttctgatt	11	9	2	1	rs376938151		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:55757849C>T	ENST00000262850.7	+	6	873	c.430C>T	c.(430-432)Cga>Tga	p.R144*	RRAGB_ENST00000374941.4_Nonsense_Mutation_p.R116*|RRAGB_ENST00000474757.1_3'UTR	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						CAACATCTTCCGAAATGTGGA	0.403																																						ENST00000374941.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						c.(346-348)Cga>Tga		Ras-related GTP binding B		C	stop/ARG,stop/ARG	1,3834		0,0,1,1632,570	55	47	50		346,430	1.9	1	X		50	0,6728		0,0,0,2428,1872	no	stop-gained,stop-gained	RRAGB	NM_006064.4,NM_016656.3	,	0,0,1,4060,2442	TT,TC,T,CC,C		0.0,0.0261,0.0095	,	116/347,144/375	55757849	1,10562	2203	4300	6503	SO:0001587	stop_gained	10325				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding	g.chrX:55757849C>T	X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.430C>T	X.37:g.55757849C>T	ENSP00000262850:p.Arg144*		Somatic				RRAGB_ENST00000474757.1_3'UTR|RRAGB_ENST00000262850.7_Nonsense_Mutation_p.R144*	p.R116*	NM_006064.4	NP_006055.3	WXS	Illumina GAIIx	Phase_I	Q5VZM2	RRAGB_HUMAN			5	935	+			144						Nonsense_Mutation	SNP	ENST00000262850.7	37	c.346C>T	CCDS14372.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346671	0.95807	2.61E-4	0.0	ENSG00000083750	ENST00000374941;ENST00000414239;ENST00000262850	.	.	.	4.74	1.88	0.25563	.	0.062582	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7741	6.3543	0.21393	0.321:0.5866:0.0:0.0924	.	.	.	.	X	116;78;144	.	ENSP00000262850:R144X	R	+	1	2	RRAGB	55774574	1.000000	0.71417	0.980000	0.43619	0.943000	0.58893	2.973000	0.49264	0.029000	0.15352	0.513000	0.50165	CGA		0.403	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	NM_016656		7	13	0	0	0	1	0	7	13					T	55757849	C	T	55757849	4	4	17	1	0	0	0	0	0	1	0	0	13688	644	23	1	452	1	RRAGB	23	55757849	Nonsense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	6995654	55757849	99512711	97	1220										
SLC16A2	6567	broad.mit.edu	37	chrX	73744511	73744511	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	aagcaagagaggtgtccgcaCcctgcaccagcgctttctgg	12	13	1	1			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:73744511C>A	ENST00000587091.1	+	3	1070	c.893C>A	c.(892-894)aCc>aAc	p.T298N	SLC16A2_ENST00000276033.5_Missense_Mutation_p.T372N	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	298					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	GGTGTCCGCACCCTGCACCAG	0.572																																						ENST00000276033.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21						c.(1114-1116)aCc>aAc		solute carrier family 16, member 2 (thyroid hormone transporter)	Pyruvic acid(DB00119)						88	75	79					X																	73744511		2203	4300	6503	SO:0001583	missense	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73744511C>A		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"Solute carriers"	10923	protein-coding gene	gene with protein product		300095	"solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)", "Allan-Herndon-Dudley syndrome", "solute carrier family 16 (monocarboxylic acid transporters), member 2", "mental retardation, X-linked 22", "solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.893C>A	X.37:g.73744511C>A	ENSP00000465734:p.Thr298Asn		Somatic				SLC16A2_ENST00000587091.1_Missense_Mutation_p.T298N	p.T372N			WXS	Illumina GAIIx	Phase_I	P36021	MOT8_HUMAN			3	1281	+			298					Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.1115C>A	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273331	0.23221	.	.	ENSG00000147100	ENST00000276033	T	0.59083	0.29	5.66	1.68	0.24146	Major facilitator superfamily domain, general substrate transporter (1);	0.368951	0.31279	N	0.007931	T	0.33323	0.0859	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15093	-1.0449	10	0.22109	T	0.4	.	12.018	0.53326	0.1037:0.224:0.6722:0.0	.	298	P36021	MOT8_HUMAN	N	372	ENSP00000276033:T372N	ENSP00000276033:T372N	T	+	2	0	SLC16A2	73661236	0.991000	0.36638	0.651000	0.29564	0.976000	0.68499	1.797000	0.38804	0.167000	0.19631	0.597000	0.82753	ACC		0.572	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			39	47	1	0	2.91434e-09	1	3.04329e-09	39	47					A	73744511	C	A	73744511	3	1	17	1	0	0	0	0	1	0	0	0	14423	507	18	5	1125	5	SLC16A2	23	73744511	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	17986662	73744511	81526049	98	1221										
CYLC1	1538	broad.mit.edu	37	chrX	83128836	83128836	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cagagtctactgatactgaaTcaggagatgcaaaggatgca	11	7	2	4			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:83128836T>A	ENST00000329312.4	+	4	1157	c.1120T>A	c.(1120-1122)Tca>Aca	p.S374T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	374					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGATACTGAATCAGGAGATGC	0.323																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1120-1122)Tca>Aca		cylicin, basic protein of sperm head cytoskeleton 1							33	30	31					X																	83128836		2191	4290	6481	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128836T>A	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1120T>A	X.37:g.83128836T>A	ENSP00000331556:p.Ser374Thr		Somatic					p.S374T	NM_021118.1	NP_066941.1	WXS	Illumina GAIIx	Phase_I	P35663	CYLC1_HUMAN			4	1157	+			374					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1120T>A	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	t	10.31	1.314006	0.23908	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.26518	1.73	4.36	3.09	0.35607	.	.	.	.	.	T	0.27629	0.0679	L	0.50333	1.59	0.24690	N	0.99332	P;P	0.50156	0.932;0.932	P;P	0.49561	0.615;0.615	T	0.07481	-1.0770	9	0.30078	T	0.28	.	5.7798	0.18299	0.2405:0.0:0.0:0.7595	.	374;374	P35663;F5H4V5	CYLC1_HUMAN;.	T	374	ENSP00000331556:S374T	ENSP00000331556:S374T	S	+	1	0	CYLC1	83015492	1.000000	0.71417	0.980000	0.43619	0.557000	0.35523	1.331000	0.33793	1.724000	0.51502	0.451000	0.29950	TCA		0.323	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		15	14	0	0	0	1	0	15	14					A	83128836	T	A	83128836	3	1	17	1	0	0	0	0	1	0	0	0	4143	1435	50	4	1134	4	CYLC1	23	83128836	Missense_Mutation	SNP	T	TCGA-N6-A4VD-01A-11D-A28R-08	9384325	83128836	72141724	99	1222										
CHM	1121	broad.mit.edu	37	chrX	85218875	85218875	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cagcaccatttacttctagcGcattctctggatcgctgctt	7	13	2	0	rs569919713		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:85218875G>A	ENST00000357749.2	-	5	526	c.497C>T	c.(496-498)gCg>gTg	p.A166V	CHM_ENST00000537751.1_Missense_Mutation_p.A18V|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	166					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.A166V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TACTTCTAGCGCATTCTCTGG	0.443																																						ENST00000357749.2																			1	Substitution - Missense(1)	p.A166V(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(496-498)gCg>gTg		choroideremia (Rab escort protein 1)							163	129	141					X																	85218875		2203	4300	6503	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85218875G>A	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.497C>T	X.37:g.85218875G>A	ENSP00000350386:p.Ala166Val		Somatic				CHM_ENST00000537751.1_Missense_Mutation_p.A18V|CHM_ENST00000467744.1_Intron	p.A166V	NM_000390.2	NP_000381.1	WXS	Illumina GAIIx	Phase_I	P24386	RAE1_HUMAN			5	526	-		all_lung(315;5.41e-06)	166					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.497C>T	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	G	4.636	0.118180	0.08881	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	T;T	0.59906	0.23;0.23	4.5	2.72	0.32119	.	0.772224	0.12628	N	0.452422	T	0.41811	0.1175	L	0.44542	1.39	0.09310	N	1	P	0.35872	0.525	B	0.25140	0.058	T	0.10154	-1.0642	10	0.15499	T	0.54	-7.8514	10.1654	0.42877	0.1693:0.0:0.8307:0.0	.	166	P24386	RAE1_HUMAN	V	166;18	ENSP00000350386:A166V;ENSP00000441728:A18V	ENSP00000350386:A166V	A	-	2	0	CHM	85105531	0.003000	0.15002	0.002000	0.10522	0.143000	0.21401	1.088000	0.30877	0.308000	0.22923	-0.816000	0.03127	GCG		0.443	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		30	49	0	0	0	1	0	30	49					A	85218875	G	A	85218875	3	1	17	1	0	0	0	0	1	0	0	0	3352	1087	38	1	1508	1	CHM	23	85218875	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	2090039	85218875	70051685	100	1223										
RHOXF1	158800	broad.mit.edu	37	chrX	119249405	119249405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	catcagggtattgagtgtgtCggaaaacactttccagctcc	10	10	1	1			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:119249405C>T	ENST00000217999.2	-	1	442	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	GS1-421I3.4_ENST00000422226.1_lincRNA|RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	123					gamete generation (GO:0007276)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|sexual reproduction (GO:0019953)|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)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						TTGAGTGTGTCGGAAAACACT	0.577																																						ENST00000217999.2																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						c.(367-369)cGa>cAa		Rhox homeobox family, member 1							72	61	65					X																	119249405		2203	4296	6499	SO:0001583	missense	158800				gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:119249405C>T		CCDS14593.1	Xq24	2011-06-20			ENSG00000101883	ENSG00000101883		"Homeoboxes / PRD class"	29993	protein-coding gene	gene with protein product		300446				11980563, 12490318	Standard	NM_139282		Approved	OTEX, PEPP1	uc004esk.2	Q8NHV9	OTTHUMG00000022290	ENST00000217999.2:c.368G>A	X.37:g.119249405C>T	ENSP00000217999:p.Arg123Gln		Somatic				RP4-755D9.1_ENST00000553843.1_RNA	p.R123Q	NM_139282.1	NP_644811.1	WXS	Illumina GAIIx	Phase_I	Q8NHV9	RHXF1_HUMAN			1	442	-			123					O95030|Q3SYE0	Missense_Mutation	SNP	ENST00000217999.2	37	c.368G>A	CCDS14593.1	.	.	.	.	.	.	.	.	.	.	c	0.019	-1.465544	0.01053	.	.	ENSG00000101883	ENST00000217999	D	0.95949	-3.86	2.67	0.178	0.15058	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.	.	.	.	D	0.82664	0.5086	N	0.03016	-0.435	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.72469	-0.4284	9	0.07325	T	0.83	-4.2574	4.5481	0.12090	0.0:0.3303:0.0:0.6697	.	123	Q8NHV9	RHXF1_HUMAN	Q	123	ENSP00000217999:R123Q	ENSP00000217999:R123Q	R	-	2	0	RHOXF1	119133433	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.317000	0.08060	-0.059000	0.13154	-0.513000	0.04457	CGA		0.577	RHOXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058083.2	NM_139282		37	51	0	0	0	1	0	37	51					T	119249405	C	T	119249405	3	4	17	1	0	0	0	0	1	0	0	0	13362	884	31	1	198	1	RHOXF1	23	119249405	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	34030530	119249405	36021155	101	1224										
BCORL1	63035	broad.mit.edu	37	chrX	129149592	129149592	+	Frame_Shift_Del	DEL	G	G	-													0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	ggggacattcgaatgaatcaGgggcctgaggaatcagagag							TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:129149592delG	ENST00000218147.7	+	4	3041	c.2844delG	c.(2842-2844)cagfs	p.Q948fs	BCORL1_ENST00000359304.2_Frame_Shift_Del_p.Q948fs|BCORL1_ENST00000540052.1_Frame_Shift_Del_p.Q948fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.Q948fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	948					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						GAATGAATCAGGGGCCTGAGG	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.(2842-2844)cafs		BCL6 corepressor-like 1							62	58	60					X																	129149592		2203	4300	6503	SO:0001589	frameshift_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149592delG	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.2844delG	X.37:g.129149592delG	ENSP00000218147:p.Gln948fs		Somatic				BCORL1_ENST00000218147.7_Frame_Shift_Del_p.Q948fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.Q948fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.Q948fs	p.Q948fs	NM_021946.4	NP_068765.3	WXS	Illumina GAIIx	Phase_I	Q5H9F3	BCORL_HUMAN			3	2888	+			948					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Del	DEL	ENST00000218147.7	37	c.2844delG	CCDS14616.1																																																																																				0.577	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		39	79						39	79	---	---	---	---	-	129149592	G	-	129149592	7	5	17	1	0	1	0	1	0	0	0	0	1387	991	35	0	2854	0	BCORL1	23	129149592	Frame_Shift_Del	DEL	G	TCGA-N6-A4VD-01A-11D-A28R-08	9900187	129149592	26120968	102	1225										
BCORL1	63035	broad.mit.edu	37	chrX	129190033	129190034	+	Frame_Shift_Del	DEL	TG	TG	-													0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	cccccaggctcctctgagacTgtggagctggtgcggtacga							TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:129190033_129190034delTG	ENST00000218147.7	+	13	5255_5256	c.5058_5059delTG	c.(5056-5061)actgtgfs	p.V1687fs	BCORL1_ENST00000359304.2_Frame_Shift_Del_p.V1557fs|BCORL1_ENST00000540052.1_Frame_Shift_Del_p.V1687fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.V1761fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1687					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						CCTCTGAGACTGTGGAGCTGGT	0.619																																						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.(5056-5061)actgfs		BCL6 corepressor-like 1																																				SO:0001589	frameshift_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129190033_129190034delTG	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.5058_5059delTG	X.37:g.129190035_129190036delTG	ENSP00000218147:p.Val1687fs		Somatic				BCORL1_ENST00000218147.7_Frame_Shift_Del_p.TV1686fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.TV1760fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.TV1556fs	p.TV1686fs	NM_021946.4	NP_068765.3	WXS	Illumina GAIIx	Phase_I	Q5H9F3	BCORL_HUMAN			12	5102_5103	+			1686					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Del	DEL	ENST00000218147.7	37	c.5058_5059delTG	CCDS14616.1																																																																																				0.619	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		26	67						26	67	---	---	---	---	-	129190034	TG	-	129190033	7	5	17	1	0	1	0	1	0	0	0	0	1387	1567	55	0	5330	0	BCORL1	23	129190033	Frame_Shift_Del	DEL	TG	TCGA-N6-A4VD-01A-11D-A28R-08	40441	129190033	26080527	103	1226										
UBE2NL	389898	broad.mit.edu	37	chrX	142967368	142967368	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	agggagggacttttaaacgtGaactattacttgcagaagaa	11	5	0	3			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:142967368G>C	ENST00000370494.1	+	1	196	c.166G>C	c.(166-168)Gaa>Caa	p.E56Q		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	56						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTAAACGTGAACTATTACT	0.408																																						ENST00000370494.1																			0				breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(166-168)Gaa>Caa		ubiquitin-conjugating enzyme E2N-like							100	98	99					X																	142967368		2203	4300	6503	SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967368G>C			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"Ubiquitin-conjugating enzymes E2"	31710	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2N-like"			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.166G>C	X.37:g.142967368G>C	ENSP00000359525:p.Glu56Gln		Somatic					p.E56Q	NM_001012989.1	NP_001013007.1	WXS	Illumina GAIIx	Phase_I	Q5JXB2	UE2NL_HUMAN			1	196	+	Acute lymphoblastic leukemia(192;6.56e-05)		56					E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	c.166G>C	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.925536	0.34002	.	.	ENSG00000102069	ENST00000370494	T	0.38401	1.14	1.1	1.1	0.20463	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.44483	U	0.000448	T	0.50650	0.1628	M	0.83603	2.65	0.80722	D	1	P	0.51240	0.943	P	0.56216	0.794	T	0.54302	-0.8314	10	0.62326	D	0.03	-4.2455	7.8005	0.29172	0.0:0.0:1.0:0.0	.	56	Q5JXB2	UE2NL_HUMAN	Q	56	ENSP00000359525:E56Q	ENSP00000359525:E56Q	E	+	1	0	UBE2NL	142795034	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	6.641000	0.74324	0.849000	0.35215	0.190000	0.17370	GAA		0.408	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		49	79	0	0	0	1	0	49	79					C	142967368	G	C	142967368	3	2	17	1	0	0	0	0	1	0	0	0	16882	1291	45	2	168	2	UBE2NL	23	142967368	Missense_Mutation	SNP	G	TCGA-N6-A4VD-01A-11D-A28R-08	13777335	142967368	12303192	104	1227										
AFF2	2334	broad.mit.edu	37	chrX	147924917	147924917	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	tcttttcagagtggaatgacCcaaccaccagagcttctaca	7	12	3	3			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:147924917C>A	ENST00000370460.2	+	7	1701	c.1222C>A	c.(1222-1224)Cca>Aca	p.P408T	AFF2_ENST00000342251.3_Missense_Mutation_p.P375T|AFF2_ENST00000370458.1_Missense_Mutation_p.P375T|AFF2_ENST00000370457.5_Missense_Mutation_p.P375T|AFF2_ENST00000286437.5_Missense_Mutation_p.P49T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	408					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)					GTGGAATGACCCAACCACCAG	0.388																																						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.(1222-1224)Cca>Aca		AF4/FMR2 family, member 2							139	118	125					X																	147924917		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:147924917C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1222C>A	X.37:g.147924917C>A	ENSP00000359489:p.Pro408Thr		Somatic				AFF2_ENST00000370457.5_Missense_Mutation_p.P375T|AFF2_ENST00000342251.3_Missense_Mutation_p.P375T|AFF2_ENST00000370458.1_Missense_Mutation_p.P375T|AFF2_ENST00000286437.5_Missense_Mutation_p.P49T	p.P408T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	WXS	Illumina GAIIx	Phase_I	P51816	AFF2_HUMAN			7	1701	+	Acute lymphoblastic leukemia(192;6.56e-05)		408					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1222C>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998107	0.74818	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458;ENST00000286437	T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04	5.74	5.74	0.90152	.	0.743246	0.12669	N	0.448953	T	0.68659	0.3025	N	0.25890	0.77	0.51482	D	0.999927	D;D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.493	D;D;D;D;D;D;B	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.109	T	0.59129	-0.7512	10	0.13108	T	0.6	.	17.0505	0.86517	0.0:1.0:0.0:0.0	.	49;379;375;375;404;408;375	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;.;AFF2_HUMAN;.	T	408;375;375;375;49	ENSP00000359489:P408T;ENSP00000359486:P375T;ENSP00000345459:P375T;ENSP00000359487:P375T;ENSP00000286437:P49T	ENSP00000286437:P49T	P	+	1	0	AFF2	147732609	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	5.133000	0.64764	2.405000	0.81733	0.540000	0.68198	CCA		0.388	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		23	36	1	0	2.21704e-12	1	2.3358e-12	23	36					A	147924917	C	A	147924917	3	1	17	1	0	0	0	0	1	0	0	0	357	623	22	5	1303	5	AFF2	23	147924917	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	4957549	147924917	7345643	105	1228										
MAMLD1	10046	broad.mit.edu	37	chrX	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-													0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gccactgccaccttgcagctGcagcagcagcagcagcaaca							TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	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.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del		Somatic				MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del	p.LQ596del			WXS	Illumina GAIIx	Phase_I	Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		7	155						7	155	---	---	---	---	-	149639635	GCA	-	149639633	7	5	17	1	0	1	0	1	0	0	0	0	9217	1306	46	0	1798	0	MAMLD1	23	149639633	In_Frame_Del	DEL	GCA	TCGA-N6-A4VD-01A-11D-A28R-08	1714716	149639633	5630927	106	1229										
PLXNB3	5365	broad.mit.edu	37	chrX	153039479	153039479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	tcctgtaccagcccaaccccCgcctggcacccctcagccgc	7	23	1	0			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:153039479C>T	ENST00000361971.5	+	20	3559	c.3445C>T	c.(3445-3447)Cgc>Tgc	p.R1149C	SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R802C|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R1172C|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R759C	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1149					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)					GCCCAACCCCCGCCTGGCACC	0.687																																						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.(3514-3516)Cgc>Tgc		plexin B3							20	22	21					X																	153039479		2191	4266	6457	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153039479C>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.3445C>T	X.37:g.153039479C>T	ENSP00000355378:p.Arg1149Cys		Somatic				PLXNB3_ENST00000538282.1_Missense_Mutation_p.R759C|PLXNB3_ENST00000361971.5_Missense_Mutation_p.R1149C|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R802C	p.R1172C	NM_001163257.1	NP_001156729.1	WXS	Illumina GAIIx	Phase_I	Q9ULL4	PLXB3_HUMAN			21	3785	+	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)		1149			IPT/TIG 4.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.3514C>T	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064796	0.55432	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.68181	5.24;5.2;4.62;-0.31	5.28	5.28	0.74379	.	0.490245	0.23731	N	0.045127	T	0.75488	0.3856	M	0.66939	2.045	0.41099	D	0.985652	D;D;D	0.64830	0.981;0.994;0.981	P;P;P	0.55667	0.608;0.781;0.608	T	0.77509	-0.2561	10	0.49607	T	0.09	.	14.8154	0.70031	0.0:1.0:0.0:0.0	.	802;1172;1149	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	C	1172;1149;802;759	ENSP00000442736:R1172C;ENSP00000355378:R1149C;ENSP00000445569:R802C;ENSP00000441919:R759C	ENSP00000355378:R1149C	R	+	1	0	PLXNB3	152692673	0.001000	0.12720	1.000000	0.80357	0.930000	0.56654	0.637000	0.24659	2.198000	0.70561	0.529000	0.55759	CGC		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			15	34	0	0	0	1	0	15	34					T	153039479	C	T	153039479	3	4	17	1	0	0	0	0	1	0	0	0	12134	652	23	1	3637	1	PLXNB3	23	153039479	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	3399846	153039479	2231081	107	1230										
FLNA	2316	broad.mit.edu	37	chrX	153581007	153581007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0280373831775701	3	1	0.308849045691151	3.91208791208791	0.211464211464211	1	1	0	gggtgatgctctctttcaccCggccctcgcctgtcaccttc	9	17	3	1			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:153581007C>T	ENST00000369850.3	-	40	6652	c.6416G>A	c.(6415-6417)cGg>cAg	p.R2139Q	FLNA_ENST00000422373.1_Missense_Mutation_p.R2131Q|FLNA_ENST00000369856.3_Missense_Mutation_p.R272Q|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.R2099Q|FLNA_ENST00000360319.4_Missense_Mutation_p.R2131Q	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2139					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCTTTCACCCGGCCCTCGCC	0.617																																						ENST00000422373.1																			0				breast(6)	6						c.(6391-6393)cGg>cAg		filamin A, alpha							35	36	36					X																	153581007		1973	4129	6102	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153581007C>T	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.6416G>A	X.37:g.153581007C>T	ENSP00000358866:p.Arg2139Gln		Somatic				FLNA_ENST00000360319.4_Missense_Mutation_p.R2131Q|FLNA_ENST00000344736.4_Missense_Mutation_p.R2099Q|FLNA_ENST00000369856.3_Missense_Mutation_p.R272Q|FLNA_ENST00000369850.3_Missense_Mutation_p.R2139Q	p.R2131Q	NM_001456.3	NP_001447.2	WXS	Illumina GAIIx	Phase_I	P21333	FLNA_HUMAN			39	6640	-	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)		2139					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.6392G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516131	0.85495	.	.	ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;T;D	0.86627	-2.13;-2.13;-2.12;-0.87;-2.15	5.64	4.78	0.61160	Immunoglobulin E-set (1);	0.000000	0.64402	D	0.000001	T	0.79358	0.4432	L	0.33485	1.01	0.49687	D	0.999816	P;P;D;D	0.61697	0.95;0.611;0.99;0.99	B;B;B;B	0.37346	0.247;0.08;0.194;0.194	T	0.80091	-0.1527	10	0.52906	T	0.07	.	13.9849	0.64328	0.0:0.9253:0.0:0.0747	.	272;2131;2139;2139	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	Q	2131;2131;2139;272;2099	ENSP00000353467:R2131Q;ENSP00000416926:R2131Q;ENSP00000358866:R2139Q;ENSP00000358872:R272Q;ENSP00000358863:R2099Q	ENSP00000358863:R2099Q	R	-	2	0	FLNA	153234201	0.942000	0.31987	0.995000	0.50966	0.967000	0.64934	7.779000	0.85648	1.153000	0.42468	-0.305000	0.09177	CGG		0.617	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			25	37	0	0	0	1	0	25	37					T	153581007	C	T	153581007	3	4	17	1	0	0	0	0	1	0	0	0	5941	652	23	1	1563	1	FLNA	23	153581007	Missense_Mutation	SNP	C	TCGA-N6-A4VD-01A-11D-A28R-08	541528	153581007	1689553	108	1231										
YARS	8565	broad.mit.edu	37	chr1	33245110	33245110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ggtccagaggttcaacctggCggtttatcccttctctggga	12	11	2	1	rs147005844	byFrequency	TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:33245110C>T	ENST00000373477.4	-	12	2257	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	450	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)	p.R450H(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTCAACCTGGCGGTTTATCCC	0.557																																						ENST00000373477.4																			1	Substitution - Missense(1)	p.R450H(1)	urinary_tract(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15						c.(1348-1350)cGc>cAc		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)	C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	62	61	61		1349	5.7	1	1	dbSNP_134	61	0,8600		0,0,4300	no	missense	YARS	NM_003680.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	450/529	33245110	2,13004	2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33245110C>T	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	12840	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 1, cytoplasmic"	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1349G>A	1.37:g.33245110C>T	ENSP00000362576:p.Arg450His		Somatic				YARS_ENST00000469100.1_5'UTR	p.R450H	NM_003680.3	NP_003671.1	WXS	Illumina GAIIx	Phase_I	P54577	SYYC_HUMAN			12	2257	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	450			tRNA-binding.		B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.1349G>A	CCDS368.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644507	0.87859	4.54E-4	0.0	ENSG00000134684	ENST00000373477	T	0.72725	-0.68	5.65	5.65	0.86999	Nucleic acid-binding, OB-fold-like (1);tRNA-binding domain (2);Nucleic acid-binding, OB-fold (1);	0.042460	0.85682	D	0.000000	T	0.78811	0.4342	L	0.60455	1.87	0.58432	D	0.999994	D	0.67145	0.996	P	0.61533	0.89	T	0.78640	-0.2125	10	0.52906	T	0.07	-10.8233	13.3464	0.60575	0.0:0.928:0.0:0.072	.	450	P54577	SYYC_HUMAN	H	450	ENSP00000362576:R450H	ENSP00000362576:R450H	R	-	2	0	YARS	33017697	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	3.091000	0.50199	2.835000	0.97688	0.650000	0.86243	CGC		0.557	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		19	29	0	0	0	1	0	19	29					T	33245110	C	T	33245110	3	4	18	1	0	0	0	0	1	0	0	0	17482	768	27	1	245	1	YARS	1	33245110	Missense_Mutation	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08		33245110	216005511	1	1232										
CYP4B1	1580	broad.mit.edu	37	chr1	47284343	47284343	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ttgccatgagtgagatgaagGtggtcacagccatgtgcttg	14	7	1	3			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:47284343G>C	ENST00000271153.4	+	12	1429	c.1393G>C	c.(1393-1395)Gtg>Ctg	p.V465L	CYP4B1_ENST00000371919.4_Missense_Mutation_p.V451L|CYP4B1_ENST00000452782.2_Missense_Mutation_p.V303L|CYP4B1_ENST00000371923.4_Missense_Mutation_p.V466L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	465					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TGAGATGAAGGTGGTCACAGC	0.537																																						ENST00000271153.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(1393-1395)Gtg>Ctg		cytochrome P450, family 4, subfamily B, polypeptide 1							179	149	160					1																	47284343		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47284343G>C	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1393G>C	1.37:g.47284343G>C	ENSP00000271153:p.Val465Leu		Somatic				CYP4B1_ENST00000371923.4_Missense_Mutation_p.V466L|CYP4B1_ENST00000371919.4_Missense_Mutation_p.V451L|CYP4B1_ENST00000452782.2_Missense_Mutation_p.V303L	p.V465L			WXS	Illumina GAIIx	Phase_I	P13584	CP4B1_HUMAN			12	1429	+	Acute lymphoblastic leukemia(166;0.155)		465					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.1393G>C	CCDS542.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244873	0.95272	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	L	0.49513	1.565	0.58432	D	0.999999	D;D;D	0.60575	0.971;0.985;0.988	P;P;P	0.59357	0.669;0.775;0.856	T	0.69179	-0.5213	9	.	.	.	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	451;466;465	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	L	466;465;451;303	ENSP00000360991:V466L;ENSP00000271153:V465L;ENSP00000360987:V451L;ENSP00000400413:V303L	.	V	+	1	0	CYP4B1	47056930	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	9.434000	0.97515	2.755000	0.94549	0.655000	0.94253	GTG		0.537	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		56	43	0	0	0	1	0	56	43					C	47284343	G	C	47284343	3	2	18	1	0	0	0	0	1	0	0	0	4187	1261	44	5	1442	5	CYP4B1	1	47284343	Missense_Mutation	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	14039233	47284343	201966278	2	1233										
ZNF326	284695	broad.mit.edu	37	chr1	90484253	90484253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ttgttttctaggagtgtatgGtgaataaattcaagaaaaca	9	3	2	2			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:90484253G>A	ENST00000340281.4	+	9	1227	c.1084G>A	c.(1084-1086)Gtg>Atg	p.V362M	ZNF326_ENST00000370447.3_Missense_Mutation_p.V273M|ZNF326_ENST00000455342.2_Missense_Mutation_p.V156M	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	362					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GGAGTGTATGGTGAATAAATT	0.289																																						ENST00000340281.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25						c.(1084-1086)Gtg>Atg		zinc finger protein 326							52	57	55					1																	90484253		2198	4280	6478	SO:0001583	missense	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90484253G>A	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"Zinc fingers, C2H2-type"	14104	protein-coding gene	gene with protein product	"ZNF-protein interacting with nuclear mRNPs and DBC1"	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1084G>A	1.37:g.90484253G>A	ENSP00000340796:p.Val362Met		Somatic				ZNF326_ENST00000370447.2_Missense_Mutation_p.V273M|ZNF326_ENST00000455342.2_Missense_Mutation_p.V156M	p.V362M	NM_182976.2	NP_892021.1	WXS	Illumina GAIIx	Phase_I	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	9	1227	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	362					A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	c.1084G>A	CCDS727.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094288	0.76870	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.17528	2.27;2.27;2.27	5.56	5.56	0.83823	.	0.066635	0.64402	D	0.000018	T	0.32496	0.0831	M	0.62723	1.935	0.50313	D	0.999865	D;D	0.63046	0.992;0.992	D;P	0.66847	0.947;0.9	T	0.02457	-1.1156	10	0.62326	D	0.03	-10.1859	19.1298	0.93400	0.0:0.0:1.0:0.0	.	362;362	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	M	362;362;273;156	ENSP00000340796:V362M;ENSP00000359476:V273M;ENSP00000403470:V156M	ENSP00000340796:V362M	V	+	1	0	ZNF326	90256841	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.778000	0.75043	2.620000	0.88729	0.650000	0.86243	GTG		0.289	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		12	11	0	0	0	1	0	12	11					A	90484253	G	A	90484253	3	1	18	1	0	0	0	0	1	0	0	0	17861	1261	44	3	1122	3	ZNF326	1	90484253	Missense_Mutation	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	43199910	90484253	158766368	3	1234										
COL11A1	1301	broad.mit.edu	37	chr1	103470202	103470202	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	aggaggacctggaggaccttGaggacctcgttcaccctgtt	13	11	1	1			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:103470202G>T	ENST00000370096.3	-	19	2173	c.1861C>A	c.(1861-1863)Caa>Aaa	p.Q621K	COL11A1_ENST00000358392.2_Missense_Mutation_p.Q633K|COL11A1_ENST00000512756.1_Missense_Mutation_p.Q505K|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q582K|COL11A1_ENST00000461720.1_5'UTR	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	621	Collagen-like 3.|Collagen-like 4.|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)		GGAGGACCTTGAGGACCTCGT	0.323																																						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.(1897-1899)Caa>Aaa		collagen, type XI, alpha 1							39	36	37					1																	103470202		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.chr1:103470202G>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.1861C>A	1.37:g.103470202G>T	ENSP00000359114:p.Gln621Lys		Somatic				COL11A1_ENST00000353414.4_Missense_Mutation_p.Q582K|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q621K|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.Q505K	p.Q633K	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)	19	2214	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	621			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1897C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	6.383	0.438712	0.12104	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	5.83	5.83	0.93111	.	0.372676	0.31071	N	0.008314	D	0.82467	0.5043	L	0.34521	1.04	0.38512	D	0.948492	B;B;B;B	0.32467	0.08;0.11;0.372;0.285	B;B;B;B	0.28011	0.043;0.035;0.051;0.085	T	0.83037	-0.0159	10	0.05833	T	0.94	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	505;582;633;621	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	K	621;633;582;505	ENSP00000359114:Q621K;ENSP00000351163:Q633K;ENSP00000302551:Q582K;ENSP00000426533:Q505K	ENSP00000302551:Q582K	Q	-	1	0	COL11A1	103242790	1.000000	0.71417	0.992000	0.48379	0.948000	0.59901	4.144000	0.58057	2.756000	0.94617	0.655000	0.94253	CAA		0.323	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		4	13	1	0	0.184627	1	0.186492	4	13					T	103470202	G	T	103470202	3	4	18	1	0	0	0	0	1	0	0	0	3669	1299	45	2	3755	2	COL11A1	1	103470202	Missense_Mutation	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	12985949	103470202	145780419	4	1235										
KCNA3	3738	broad.mit.edu	37	chr1	111217391	111217393	+	In_Frame_Del	DEL	GGC	GGC	-													0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	gggcgcggtggcgggctgagGgcggcggcggcgagcgcaga							TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:111217391_111217393delGGC	ENST00000369769.2	-	1	262_264	c.39_41delGCC	c.(37-42)ccgccc>ccc	p.13_14PP>P		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	13					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)	GCGGGCTGAGGGCGGCGGCGGCG	0.768																																						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.(37-42)ccc>cc		potassium voltage-gated channel, shaker-related subfamily, member 3																																				SO:0001651	inframe_deletion	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111217391_111217393delGGC	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.39_41delGCC	1.37:g.111217400_111217402delGGC	ENSP00000358784:p.Pro14del		Somatic					p.PP13del	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	262_264	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	13					Q5VWN2	In_Frame_Del	DEL	ENST00000369769.2	37	c.39_41delGCC	CCDS828.2																																																																																				0.768	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		2	4						2	4	---	---	---	---	-	111217393	GGC	-	111217391	7	5	18	1	0	1	0	1	0	0	0	0	8013	1232	43	0	1690	0	KCNA3	1	111217391	In_Frame_Del	DEL	GGC	TCGA-N6-A4VE-01A-11D-A28R-08	7747189	111217391	138033230	5	1236										
LYST	1130	broad.mit.edu	37	chr1	235972583	235972583	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	gacctgagagatctcggtgaTgatgcataaaatgagaatat	11	5	1	5			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:235972583T>C	ENST00000389794.3	-	5	1709	c.1535A>G	c.(1534-1536)cAt>cGt	p.H512R	LYST_ENST00000536965.1_Missense_Mutation_p.H512R|LYST_ENST00000389793.2_Missense_Mutation_p.H512R			Q99698	LYST_HUMAN	lysosomal trafficking regulator	512					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)			ATCTCGGTGATGATGCATAAA	0.383																																						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.(1534-1536)cAt>cGt		lysosomal trafficking regulator							98	100	99					1																	235972583		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.chr1:235972583T>C	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.1535A>G	1.37:g.235972583T>C	ENSP00000374444:p.His512Arg		Somatic				LYST_ENST00000536965.1_Missense_Mutation_p.H512R|LYST_ENST00000389793.2_Missense_Mutation_p.H512R	p.H512R			WXS	Illumina GAIIx	Phase_I	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	1709	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	512					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.1535A>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.672501	0.67928	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.68479	-0.33;-0.33;2.52	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.79890	0.4524	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.81957	-0.0695	10	0.72032	D	0.01	.	15.5254	0.75901	0.0:0.0:0.0:1.0	.	512;512	Q99698-3;Q99698	.;LYST_HUMAN	R	512	ENSP00000374444:H512R;ENSP00000374443:H512R;ENSP00000438315:H512R	ENSP00000374443:H512R	H	-	2	0	LYST	234039206	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.059000	0.61396	0.528000	0.53228	CAT		0.383	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			44	23	0	0	0	1	0	44	23					C	235972583	T	C	235972583	3	2	18	1	0	0	0	0	1	0	0	0	9137	1464	51	4	10066	4	LYST	1	235972583	Missense_Mutation	SNP	T	TCGA-N6-A4VE-01A-11D-A28R-08	124755192	235972583	13278038	6	1237										
PXDN	7837	broad.mit.edu	37	chr2	1652949	1652949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	agcgggccccgctcctggccCgggagtcattgggggggatc	18	13	1	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:1652949C>T	ENST00000252804.4	-	17	2653	c.2603G>A	c.(2602-2604)cGg>cAg	p.R868Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	868					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)		GCTCCTGGCCCGGGAGTCATT	0.662																																						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.(2602-2604)cGg>cAg		peroxidasin homolog (Drosophila)							16	19	18					2																	1652949		2091	4186	6277	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.chr2:1652949C>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.2603G>A	2.37:g.1652949C>T	ENSP00000252804:p.Arg868Gln		Somatic					p.R868Q	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)	17	2653	-	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)	868					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2603G>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054021	0.75960	.	.	ENSG00000130508	ENST00000252804	T	0.73363	-0.74	5.36	5.36	0.76844	.	0.063890	0.64402	D	0.000015	D	0.86768	0.6012	M	0.79805	2.47	0.46131	D	0.998883	D	0.67145	0.996	D	0.65773	0.938	D	0.87969	0.2735	10	0.72032	D	0.01	-43.7993	19.5152	0.95160	0.0:1.0:0.0:0.0	.	868	Q92626	PXDN_HUMAN	Q	868	ENSP00000252804:R868Q	ENSP00000252804:R868Q	R	-	2	0	PXDN	1631956	1.000000	0.71417	0.689000	0.30133	0.602000	0.36980	5.959000	0.70339	2.683000	0.91414	0.558000	0.71614	CGG		0.662	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		17	31	0	0	0	1	0	17	31					T	1652949	C	T	1652949	3	4	18	1	0	0	0	0	1	0	0	0	12862	652	23	1	1864	1	PXDN	2	1652949	Missense_Mutation	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08		1652949	241546424	7	1238										
ADAM17	6868	broad.mit.edu	37	chr2	9663433	9663433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	cattatcccatgaagtgttcCgatagatgtcatcaactctg	7	10	3	2			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:9663433C>T	ENST00000310823.3	-	7	970	c.788G>A	c.(787-789)cGg>cAg	p.R263Q	ADAM17_ENST00000497134.1_Missense_Mutation_p.R263Q	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	263	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TGAAGTGTTCCGATAGATGTC	0.323																																						ENST00000310823.3																			0				breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28						c.(787-789)cGg>cAg		ADAM metallopeptidase domain 17							167	165	165					2																	9663433		2203	4299	6502	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9663433C>T	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.788G>A	2.37:g.9663433C>T	ENSP00000309968:p.Arg263Gln		Somatic				ADAM17_ENST00000497134.1_Missense_Mutation_p.R263Q	p.R263Q	NM_003183.4	NP_003174.3	WXS	Illumina GAIIx	Phase_I	P78536	ADA17_HUMAN		Epithelial(75;0.225)	7	970	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		263			Peptidase M12B.		O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.788G>A	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997277	0.74818	.	.	ENSG00000151694	ENST00000310823;ENST00000497134	D;D	0.87412	-2.25;-2.25	4.91	4.91	0.64330	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.000000	0.85682	D	0.000000	D	0.82384	0.5025	L	0.52206	1.635	0.80722	D	1	P;P	0.43094	0.799;0.799	B;B	0.31751	0.135;0.135	D	0.83753	0.0210	10	0.39692	T	0.17	.	18.4585	0.90729	0.0:1.0:0.0:0.0	.	263;263	B2RNB2;P78536	.;ADA17_HUMAN	Q	263	ENSP00000309968:R263Q;ENSP00000418728:R263Q	ENSP00000309968:R263Q	R	-	2	0	ADAM17	9580884	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.717000	0.68446	2.427000	0.82271	0.561000	0.74099	CGG		0.323	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			34	28	0	0	0	1	0	34	28					T	9663433	C	T	9663433	3	4	18	1	0	0	0	0	1	0	0	0	238	652	23	1	1738	1	ADAM17	2	9663433	Missense_Mutation	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08	8010484	9663433	233535940	8	1239										
XDH	7498	broad.mit.edu	37	chr2	31605884	31605884	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	caccgccacagacttgacttGcttcccagcaaaccagcgca	7	17	0	2			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:31605884G>C	ENST00000379416.3	-	11	1069	c.1021C>G	c.(1021-1023)Caa>Gaa	p.Q341E	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	341	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)	GACTTGACTTGCTTCCCAGCA	0.557																																					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.(1021-1023)Caa>Gaa		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)						74	68	70					2																	31605884		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31605884G>C	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.1021C>G	2.37:g.31605884G>C	ENSP00000368727:p.Gln341Glu		Somatic				XDH_ENST00000491727.1_5'UTR	p.Q341E	NM_000379.3	NP_000370.2	WXS	Illumina GAIIx	Phase_I	P47989	XDH_HUMAN			11	1069	-	Acute lymphoblastic leukemia(172;0.155)		341			FAD-binding PCMH-type.		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.1021C>G	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843175	0.91197	.	.	ENSG00000158125	ENST00000379416	T	0.28069	1.63	5.65	5.65	0.86999	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Xanthine dehydrogenase, small subunit (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.72170	0.3427	H	0.97340	3.985	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.82619	-0.0368	10	0.87932	D	0	.	19.3258	0.94261	0.0:0.0:1.0:0.0	.	341	P47989	XDH_HUMAN	E	341	ENSP00000368727:Q341E	ENSP00000368727:Q341E	Q	-	1	0	XDH	31459388	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	9.750000	0.98875	2.668000	0.90789	0.448000	0.29417	CAA		0.557	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		32	22	0	0	0	1	0	32	22					C	31605884	G	C	31605884	3	2	18	1	0	0	0	0	1	0	0	0	17441	1328	46	5	3084	5	XDH	2	31605884	Missense_Mutation	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	21942451	31605884	211593489	9	1240										
EDAR	10913	broad.mit.edu	37	chr2	109513391	109513391	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	cagcatgtggctgggaggcaGgtggcacaacccccgcccac	14	15	0	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:109513391G>C	ENST00000258443.2	-	12	1749	c.1319C>G	c.(1318-1320)cCt>cGt	p.P440R	EDAR_ENST00000376651.1_Missense_Mutation_p.P472R|EDAR_ENST00000409271.1_Missense_Mutation_p.P472R	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	440					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTGGGAGGCAGGTGGCACAAC	0.592																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(1414-1416)cCt>cGt		ectodysplasin A receptor							51	42	45					2																	109513391		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109513391G>C	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"Tumor necrosis factor receptor superfamily"	2895	protein-coding gene	gene with protein product		604095	"ectodysplasin 1, anhidrotic receptor"	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.1319C>G	2.37:g.109513391G>C	ENSP00000258443:p.Pro440Arg		Somatic				EDAR_ENST00000376651.1_Missense_Mutation_p.P472R|EDAR_ENST00000258443.2_Missense_Mutation_p.P440R	p.P472R			WXS	Illumina GAIIx	Phase_I	Q9UNE0	EDAR_HUMAN			12	1858	-			440					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.1415C>G	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202625	0.58234	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.90563	-2.69;-2.66;-2.69	5.19	4.32	0.51571	.	0.255608	0.39985	N	0.001211	T	0.82135	0.4971	L	0.27053	0.805	0.09310	N	1	P;B	0.37015	0.578;0.435	B;B	0.30782	0.12;0.12	T	0.76285	-0.3015	10	0.87932	D	0	-5.2431	9.9969	0.41905	0.0941:0.0:0.9059:0.0	.	472;440	E9PC98;Q9UNE0	.;EDAR_HUMAN	R	472;440;472	ENSP00000386371:P472R;ENSP00000258443:P440R;ENSP00000365839:P472R	ENSP00000258443:P440R	P	-	2	0	EDAR	108879823	0.939000	0.31865	0.003000	0.11579	0.005000	0.04900	5.168000	0.64978	1.323000	0.45263	-0.142000	0.14014	CCT		0.592	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			12	9	0	0	0	1	0	12	9					C	109513391	G	C	109513391	3	2	18	1	0	0	0	0	1	0	0	0	4907	1000	35	5	31	5	EDAR	2	109513391	Missense_Mutation	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	77907507	109513391	133685982	10	1241										
CACNB4	785	broad.mit.edu	37	chr2	152711818	152711818	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	tgctgggtgattgatggtgtCtgcatcaagaacaaccagtt	12	7	2	3			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:152711818C>A	ENST00000539935.1	-	11	1007	c.940G>T	c.(940-942)Gac>Tac	p.D314Y	CACNB4_ENST00000201943.5_Missense_Mutation_p.D314Y|CACNB4_ENST00000397327.2_Missense_Mutation_p.D267Y|CACNB4_ENST00000534999.1_Missense_Mutation_p.D280Y|CACNB4_ENST00000360283.6_Missense_Mutation_p.D281Y|CACNB4_ENST00000427385.1_Missense_Mutation_p.D296Y	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	314					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)	TTGATGGTGTCTGCATCAAGA	0.373																																						ENST00000360283.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(841-843)Gac>Tac		calcium channel, voltage-dependent, beta 4 subunit	Verapamil(DB00661)						127	124	125					2																	152711818		1886	4125	6011	SO:0001583	missense	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.chr2:152711818C>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.940G>T	2.37:g.152711818C>A	ENSP00000438949:p.Asp314Tyr		Somatic				CACNB4_ENST00000201943.5_Missense_Mutation_p.D314Y|CACNB4_ENST00000397327.2_Missense_Mutation_p.D267Y|CACNB4_ENST00000539935.1_Missense_Mutation_p.D314Y|CACNB4_ENST00000534999.1_Missense_Mutation_p.D280Y|CACNB4_ENST00000427385.1_Missense_Mutation_p.D296Y	p.D281Y			WXS	Illumina GAIIx	Phase_I	O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	10	1098	-			314					A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	ENST00000539935.1	37	c.841G>T	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822586	0.90873	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.99	5.99	0.97316	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.78515	0.4295	M	0.86502	2.82	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	T	0.80390	-0.1402	10	0.72032	D	0.01	-19.2441	20.4777	0.99188	0.0:1.0:0.0:0.0	.	314;314;296;280	A7BJ74;O00305;B4DG40;O00305-2	.;CACB4_HUMAN;.;.	Y	314;281;271;309;280;267;296;314;315	ENSP00000438949:D314Y;ENSP00000353425:D281Y;ENSP00000390161:D309Y;ENSP00000443893:D280Y;ENSP00000380490:D267Y;ENSP00000410978:D296Y;ENSP00000201943:D314Y	ENSP00000201943:D314Y	D	-	1	0	CACNB4	152420064	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.840000	0.97914	0.655000	0.94253	GAC		0.373	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		5	33	1	0	1.23904e-05	1	1.31813e-05	5	33					A	152711818	C	A	152711818	3	1	18	1	0	0	0	0	1	0	0	0	2557	913	32	2	638	2	CACNB4	2	152711818	Missense_Mutation	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08	43198427	152711818	90487555	11	1242										
SCN7A	6332	broad.mit.edu	37	chr2	167289081	167289081	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	taacatatacctcatttacaTggtccattgtgtcctttggg	7	9	1	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:167289081T>A	ENST00000409855.1	-	15	2465	c.2339A>T	c.(2338-2340)cAt>cTt	p.H780L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	780					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CTCATTTACATGGTCCATTGT	0.353																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(2338-2340)cAt>cTt		sodium channel, voltage-gated, type VII, alpha subunit							191	180	183					2																	167289081		1840	4090	5930	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167289081T>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.2339A>T	2.37:g.167289081T>A	ENSP00000386796:p.His780Leu		Somatic					p.H780L	NM_002976.3	NP_002967.2	WXS	Illumina GAIIx	Phase_I	Q01118	SCN7A_HUMAN			15	2465	-			780						Missense_Mutation	SNP	ENST00000409855.1	37	c.2339A>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	5.695	0.312795	0.10789	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.83419	-1.72;-1.72	5.51	1.92	0.25849	Sodium ion transport-associated (1);	0.425661	0.21860	N	0.068042	T	0.62295	0.2416	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.47560	-0.9108	10	0.23302	T	0.38	.	6.9708	0.24648	0.0:0.2525:0.0:0.7475	.	780	Q01118	SCN7A_HUMAN	L	780	ENSP00000386796:H780L;ENSP00000413699:H780L	ENSP00000259060:H780L	H	-	2	0	SCN7A	166997327	0.001000	0.12720	0.035000	0.18076	0.809000	0.45718	0.874000	0.28065	0.185000	0.20105	-0.411000	0.06167	CAT		0.353	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			41	57	0	0	0	1	0	41	57					A	167289081	T	A	167289081	3	1	18	1	0	0	0	0	1	0	0	0	13938	1464	51	4	2753	4	SCN7A	2	167289081	Missense_Mutation	SNP	T	TCGA-N6-A4VE-01A-11D-A28R-08	14577263	167289081	75910292	12	1243										
CSRNP1	64651	broad.mit.edu	37	chr3	39185088	39185088	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	gttccccacgctcccttcctCctcttcctcctcctccccac	2	25	1	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:39185088C>G	ENST00000273153.5	-	5	1405	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	CSRNP1_ENST00000514182.1_Missense_Mutation_p.E410Q	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	410					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						CTCCCTTCCTCCTCTTCCTCC	0.602																																						ENST00000273153.5																			0				central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						c.(1228-1230)Gag>Cag		cysteine-serine-rich nuclear protein 1							58	60	59					3																	39185088		2203	4300	6503	SO:0001583	missense	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39185088C>G	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.1228G>C	3.37:g.39185088C>G	ENSP00000273153:p.Glu410Gln		Somatic				CSRNP1_ENST00000514182.1_Missense_Mutation_p.E410Q	p.E410Q	NM_033027.3	NP_149016.2	WXS	Illumina GAIIx	Phase_I	Q96S65	CSRN1_HUMAN			5	1405	-			410					Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	c.1228G>C	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499960	0.26861	.	.	ENSG00000144655	ENST00000273153;ENST00000514182;ENST00000318290	T;T	0.47528	0.84;0.84	4.43	3.55	0.40652	.	0.937419	0.09006	N	0.862297	T	0.46600	0.1401	L	0.39633	1.23	0.33615	D	0.604011	P	0.43701	0.815	P	0.45681	0.49	T	0.50759	-0.8790	10	0.30854	T	0.27	-9.1847	12.4044	0.55430	0.0:0.918:0.0:0.082	.	410	Q96S65	CSRN1_HUMAN	Q	410;410;68	ENSP00000273153:E410Q;ENSP00000422532:E410Q	ENSP00000273153:E410Q	E	-	1	0	CSRNP1	39160092	0.004000	0.15560	0.539000	0.28077	0.478000	0.33099	0.327000	0.19663	1.224000	0.43551	0.591000	0.81541	GAG		0.602	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		11	49	0	0	0	1	0	11	49					G	39185088	C	G	39185088	3	3	18	1	0	0	0	0	1	0	0	0	3965	864	30	2	545	2	CSRNP1	3	39185088	Missense_Mutation	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08		39185088	158837342	13	1244										
LSAMP	4045	broad.mit.edu	37	chr3	115805175	115805175	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	cccacactttccttaccttgTacgatcaagtaaacttggga	6	12	1	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:115805175T>C	ENST00000490035.2	-	2	883	c.384A>G	c.(382-384)gtA>gtG	p.V128V	LSAMP_ENST00000539563.1_Silent_p.V125V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	128					cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CCTTACCTTGTACGATCAAGT	0.438																																						ENST00000490035.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(382-384)gtA>gtG		limbic system-associated membrane protein							76	70	72					3																	115805175		2203	4300	6503	SO:0001819	synonymous_variant	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115805175T>C	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"Immunoglobulin superfamily / I-set domain containing"	6705	protein-coding gene	gene with protein product	"IgLON family member 3"	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.384A>G	3.37:g.115805175T>C			Somatic				LSAMP_ENST00000539563.1_Silent_p.V125V	p.V128V	NM_002338.3	NP_002329.2	WXS	Illumina GAIIx	Phase_I	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	2	883	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	128					Q8IV49	Silent	SNP	ENST00000490035.2	37	c.384A>G	CCDS2982.1																																																																																				0.438	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		10	45	0	0	0	1	0	10	45					C	115805175	T	C	115805175	2	2	18	1	0	0	0	0	0	0	0	1	9057	1625	57	4		4	LSAMP	3	115805175	Silent	SNP	T	TCGA-N6-A4VE-01A-11D-A28R-08	76620087	115805175	82217255	14	1245										
MGLL	11343	broad.mit.edu	37	chr3	127439984	127439984	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ggcccggcctctctgcggccGtgaggatggcgatggcgcct	17	14	1	1			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:127439984G>C	ENST00000434178.2	-	5	1288	c.392C>G	c.(391-393)aCg>aGg	p.T131R	MGLL_ENST00000453507.2_Missense_Mutation_p.T141R|MGLL_ENST00000398104.1_Missense_Mutation_p.T131R|MGLL_ENST00000398101.3_Missense_Mutation_p.T105R|MGLL_ENST00000265052.5_Missense_Mutation_p.T141R			Q99685	MGLL_HUMAN	monoglyceride lipase	131					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						CTCTGCGGCCGTGAGGATGGC	0.537																																						ENST00000434178.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(391-393)aCg>aGg		monoglyceride lipase							47	53	51					3																	127439984		2011	4176	6187	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.chr3:127439984G>C	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.392C>G	3.37:g.127439984G>C	ENSP00000402798:p.Thr131Arg		Somatic				MGLL_ENST00000265052.5_Missense_Mutation_p.T141R|MGLL_ENST00000398104.1_Missense_Mutation_p.T131R|MGLL_ENST00000453507.2_Missense_Mutation_p.T141R|MGLL_ENST00000398101.3_Missense_Mutation_p.T105R	p.T131R			WXS	Illumina GAIIx	Phase_I	Q99685	MGLL_HUMAN			5	1288	-			131					B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Missense_Mutation	SNP	ENST00000434178.2	37	c.392C>G	CCDS43148.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.52|17.52	3.410956|3.410956	0.62399|0.62399	.|.	.|.	ENSG00000074416|ENSG00000074416	ENST00000496306|ENST00000434178;ENST00000265052;ENST00000398104;ENST00000398101;ENST00000487473;ENST00000536024;ENST00000453507;ENST00000484451;ENST00000493611	.|T;T;T;T;T;T;T	.|0.76709	.|-1.04;-1.04;-1.04;-1.04;-0.26;-0.26;-0.26	5.35|5.35	4.46|4.46	0.54185|0.54185	.|Alpha/beta hydrolase fold-1 (1);	.|0.213337	.|0.49305	.|D	.|0.000149	D|D	0.84669|0.84669	0.5523|0.5523	L|L	0.61036|0.61036	1.89|1.89	0.51233|0.51233	D|D	0.999918|0.999918	.|D;D;D;D;D	.|0.65815	.|0.957;0.977;0.968;0.982;0.995	.|P;P;P;P;D	.|0.70487	.|0.702;0.609;0.903;0.861;0.969	T|T	0.83237|0.83237	-0.0060|-0.0060	5|10	.|0.33940	.|T	.|0.23	-34.451|-34.451	13.4184|13.4184	0.60982|0.60982	0.079:0.0:0.921:0.0|0.079:0.0:0.921:0.0	.|.	.|141;131;131;141;105	.|B7Z9D1;B2ZGL7;Q99685;B3KRC2;E7EWX8	.|.;.;MGLL_HUMAN;.;.	G|R	11|131;141;131;105;55;141;141;55;68	.|ENSP00000402798:T131R;ENSP00000265052:T141R;ENSP00000381176:T131R;ENSP00000381173:T105R;ENSP00000420125:T55R;ENSP00000419340:T55R;ENSP00000417689:T68R	.|ENSP00000265052:T141R	R|T	-|-	1|2	2|0	MGLL|MGLL	128922674|128922674	1.000000|1.000000	0.71417|0.71417	0.033000|0.033000	0.17914|0.17914	0.309000|0.309000	0.27889|0.27889	7.136000|7.136000	0.77285|0.77285	1.224000|1.224000	0.43551|0.43551	0.591000|0.591000	0.81541|0.81541	CGG|ACG		0.537	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	NM_007283		22	60	0	0	0	1	0	22	60					C	127439984	G	C	127439984	3	2	18	1	0	0	0	0	1	0	0	0	9565	1145	40	5	535	5	MGLL	3	127439984	Missense_Mutation	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	11634809	127439984	70582446	15	1246										
GPR149	344758	broad.mit.edu	37	chr3	154056029	154056029	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	acacagtcccctggaatgcaCacaagggaatggcaagggca	12	11	0	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:154056029C>A	ENST00000389740.2	-	4	1754	c.1655G>T	c.(1654-1656)tGt>tTt	p.C552F		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	552					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGGAATGCACACAAGGGAAT	0.448																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(1654-1656)tGt>tTt		G protein-coupled receptor 149							110	110	110					3																	154056029		1878	4103	5981	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154056029C>A	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1655G>T	3.37:g.154056029C>A	ENSP00000374390:p.Cys552Phe		Somatic					p.C552F	NM_001038705.1	NP_001033794.1	WXS	Illumina GAIIx	Phase_I	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	1754	-			552						Missense_Mutation	SNP	ENST00000389740.2	37	c.1655G>T	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337668	0.81911	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.78874	0.4352	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79465	-0.1792	9	0.87932	D	0	-17.1242	19.9836	0.97340	0.0:1.0:0.0:0.0	.	552	Q86SP6	GP149_HUMAN	F	552	.	ENSP00000374390:C552F	C	-	2	0	GPR149	155538723	1.000000	0.71417	0.999000	0.59377	0.916000	0.54674	7.463000	0.80869	2.726000	0.93360	0.655000	0.94253	TGT		0.448	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		61	135	1	0	3.7469e-33	1	4.56939e-33	61	135					A	154056029	C	A	154056029	3	1	18	1	0	0	0	0	1	0	0	0	6662	478	17	5	544	5	GPR149	3	154056029	Missense_Mutation	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08	26616045	154056029	43966401	16	1247										
WDR19	57728	broad.mit.edu	37	chr4	39230233	39230233	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	aacatctaccttagcacccaTggctttctcagcaacttaaa	4	13	2	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:39230233T>C	ENST00000399820.3	+	17	2059	c.1905T>C	c.(1903-1905)caT>caC	p.H635H	WDR19_ENST00000288634.7_Silent_p.H475H|WDR19_ENST00000515631.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	635					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TTAGCACCCATGGCTTTCTCA	0.428																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(1903-1905)caT>caC		WD repeat domain 19							150	142	145					4																	39230233		1905	4113	6018	SO:0001819	synonymous_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39230233T>C	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1905T>C	4.37:g.39230233T>C			Somatic				WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Silent_p.H475H	p.H635H	NM_025132.3	NP_079408.3	WXS	Illumina GAIIx	Phase_I	Q8NEZ3	WDR19_HUMAN			17	2059	+			635					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	37	c.1905T>C	CCDS47042.1																																																																																				0.428	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			46	44	0	0	0	1	0	46	44					C	39230233	T	C	39230233	2	2	18	1	0	0	0	0	0	0	0	1	17294	1461	51	4		4	WDR19	4	39230233	Silent	SNP	T	TCGA-N6-A4VE-01A-11D-A28R-08		39230233	151924043	17	1248										
PTPN13	5783	broad.mit.edu	37	chr4	87696407	87696407	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	tccaaaacagtcagattagtTattggacgagttctagaatt	8	6	2	2			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:87696407T>A	ENST00000411767.2	+	34	5655	c.5592T>A	c.(5590-5592)gtT>gtA	p.V1864V	PTPN13_ENST00000511467.1_Silent_p.V1869V|PTPN13_ENST00000427191.2_Silent_p.V1845V|PTPN13_ENST00000436978.1_Silent_p.V1869V|PTPN13_ENST00000316707.6_Silent_p.V1673V			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1864	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAGATTAGTTATTGGACGAG	0.388																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(5605-5607)gtT>gtA		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							77	71	73					4																	87696407		1874	4117	5991	SO:0001819	synonymous_variant	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87696407T>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5592T>A	4.37:g.87696407T>A			Somatic				PTPN13_ENST00000411767.2_Silent_p.V1864V|PTPN13_ENST00000427191.2_Silent_p.V1845V|PTPN13_ENST00000316707.6_Silent_p.V1673V|PTPN13_ENST00000511467.1_Silent_p.V1869V	p.V1869V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	WXS	Illumina GAIIx	Phase_I	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	34	6087	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1864					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	c.5607T>A	CCDS47094.1																																																																																				0.388	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			4	23	0	0	0	1	0	4	23					A	87696407	T	A	87696407	2	1	18	1	0	0	0	0	0	0	0	1	12795	1741	61	4		4	PTPN13	4	87696407	Silent	SNP	T	TCGA-N6-A4VE-01A-11D-A28R-08	48466174	87696407	103457869	18	1249										
NAA15	80155	broad.mit.edu	37	chr4	140278710	140278710	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	tgaaagctaaaatctataagGtaaaaatctttttttctatt	4	4	3	1			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:140278710G>A	ENST00000296543.5	+	11	1580		c.e11+1		NAA15_ENST00000398947.1_Splice_Site	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit						angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AATCTATAAGGTAAAAATCTT	0.284																																						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.e11+1		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							30	28	29					4																	140278710		1786	4057	5843	SO:0001630	splice_region_variant	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140278710G>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.1257+1G>A	4.37:g.140278710G>A			Somatic				NAA15_ENST00000398947.1_Splice_Site		NM_057175.3	NP_476516.1	WXS	Illumina GAIIx	Phase_I	Q9BXJ9	NAA15_HUMAN			11	1580	+								D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Splice_Site	SNP	ENST00000296543.5	37		CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489336	0.84962	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8695	0.96845	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAA15	140498160	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.476000	0.97823	2.684000	0.91462	0.650000	0.86243	.		0.284	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175	Intron	6	4	0	0	0	1	0	6	4					A	140278710	G	A	140278710	5	1	18	1	0	0	0	0	0	0	1	0	10127	1275	44	3	1300	3	NAA15	4	140278710	Splice_Site	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	52582303	140278710	50875566	19	1250										
FBXW7	55294	broad.mit.edu	37	chr4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	aaaccctaagagtggcatctCgagaaccgctaacaactctg	8	12	2	2			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		47	Substitution - Missense(46)|Unknown(1)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)	haematopoietic_and_lymphoid_tissue(16)|large_intestine(9)|endometrium(7)|urinary_tract(5)|upper_aerodigestive_tract(4)|lung(4)|stomach(1)|kidney(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1435-1437)cGa>cAa		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							85	80	82					4																	153247366		2203	4299	6502	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247366C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1436G>A	4.37:g.153247366C>T	ENSP00000281708:p.Arg479Gln		Somatic				FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q	p.R479Q	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			10	2665	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	479					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1436G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283775	0.95489	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.72	5.72	0.89469	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	0.50222	0.1603	N	0.12527	0.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.56529	-0.7964	10	0.56958	D	0.05	-12.7081	20.2406	0.98372	0.0:1.0:0.0:0.0	.	303;479;361;399	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	479;361;399;303	ENSP00000281708:R479Q;ENSP00000296555:R361Q;ENSP00000263981:R399Q;ENSP00000377528:R303Q	ENSP00000263981:R399Q	R	-	2	0	FBXW7	153466816	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.715000	0.84713	2.857000	0.98124	0.650000	0.86243	CGA		0.403	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			9	32	0	0	0	1	0	9	32					T	153247366	C	T	153247366	3	4	18	1	0	0	0	0	1	0	0	0	5777	884	31	1	699	1	FBXW7	4	153247366	Missense_Mutation	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08	12968656	153247366	37906910	20	1251										
PTGER4	5734	broad.mit.edu	37	chr5	40691917	40691917	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	accagttatatcagccaagtTtggagcgagaagtcagtaaa	10	7	2	1			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr5:40691917T>C	ENST00000302472.3	+	3	1928	c.904T>C	c.(904-906)Ttg>Ctg	p.L302L		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	302					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TCAGCCAAGTTTGGAGCGAGA	0.413																																						ENST00000302472.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(904-906)Ttg>Ctg		prostaglandin E receptor 4 (subtype EP4)							100	99	99					5																	40691917		2203	4300	6503	SO:0001819	synonymous_variant	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40691917T>C	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.904T>C	5.37:g.40691917T>C			Somatic					p.L302L	NM_000958.2	NP_000949.1	WXS	Illumina GAIIx	Phase_I	P35408	PE2R4_HUMAN			3	1928	+			302					Q3MJ87	Silent	SNP	ENST00000302472.3	37	c.904T>C	CCDS3930.1																																																																																				0.413	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		17	72	0	0	0	1	0	17	72					C	40691917	T	C	40691917	2	2	18	1	0	0	0	0	0	0	0	1	12758	1838	64	4		4	PTGER4	5	40691917	Silent	SNP	T	TCGA-N6-A4VE-01A-11D-A28R-08		40691917	140223343	21	1252										
SIL1	64374	broad.mit.edu	37	chr5	138282944	138282944	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	gccagtgtcctgccgagctgGgggtcctgacggtagcggtc	17	12	0	1			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr5:138282944G>C	ENST00000394817.2	-	10	1387	c.1248C>G	c.(1246-1248)ccC>ccG	p.P416P	SIL1_ENST00000515008.1_5'UTR|SIL1_ENST00000509534.1_Silent_p.P423P|SIL1_ENST00000265195.5_Silent_p.P416P	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	416					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCCGAGCTGGGGGTCCTGAC	0.677									Marinesco-Sjgren syndrome																													ENST00000394817.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(1246-1248)ccC>ccG		SIL1 nucleotide exchange factor							39	36	37					5																	138282944		2203	4298	6501	SO:0001819	synonymous_variant	64374	Marinesco-Sjgren syndrome	Familial Cancer Database	Marinesco-Sjogren syndrome	intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding	g.chr5:138282944G>C	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"Marinesco-Sjogren syndrome", "SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.1248C>G	5.37:g.138282944G>C			Somatic				SIL1_ENST00000515008.1_5'UTR|SIL1_ENST00000265195.5_Silent_p.P416P|SIL1_ENST00000509534.1_Silent_p.P423P	p.P416P	NM_022464.4	NP_071909.1	WXS	Illumina GAIIx	Phase_I	Q9H173	SIL1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		10	1387	-			416					D3DQC2|Q8N2L3	Silent	SNP	ENST00000394817.2	37	c.1248C>G	CCDS4209.1																																																																																				0.677	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		34	21	0	0	0	1	0	34	21					C	138282944	G	C	138282944	2	2	18	1	0	0	0	0	0	0	0	1	14336	1219	43	5		5	SIL1	5	138282944	Silent	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	97591027	138282944	42632316	22	1253										
FAT2	2196	broad.mit.edu	37	chr5	150889670	150889670	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ttccaggcagggtgcaaaagTacagttctcccttccttgtt	9	11	1	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr5:150889670T>G	ENST00000261800.5	-	21	11983	c.11971A>C	c.(11971-11973)Act>Cct	p.T3991P	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3991	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			GGTGCAAAAGTACAGTTCTCC	0.522																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(11971-11973)Act>Cct		FAT atypical cadherin 2							157	155	156					5																	150889670		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.chr5:150889670T>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11971A>C	5.37:g.150889670T>G	ENSP00000261800:p.Thr3991Pro		Somatic				CTC-251D13.1_ENST00000606930.1_RNA	p.T3991P	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)		21	11983	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3991			EGF-like 2.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.11971A>C	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.321|7.321	0.617032|0.617032	0.14129|0.14129	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	D|.	0.91792|.	-2.91|.	5.54|5.54	2.73|2.73	0.32206|0.32206	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.335125|.	0.25771|.	N|.	0.028414|.	T|T	0.24160|0.24160	0.0585|0.0585	N|N	0.26092|0.26092	0.79|0.79	0.20638|0.20638	N|N	0.999873|0.999873	B;B|.	0.31730|.	0.337;0.337|.	B;B|.	0.31614|.	0.133;0.099|.	T|T	0.18808|0.18808	-1.0325|-1.0325	10|5	0.31617|.	T|.	0.26|.	.|.	4.4701|4.4701	0.11708|0.11708	0.1801:0.1373:0.0:0.6826|0.1801:0.1373:0.0:0.6826	.|.	3991;1096|.	Q9NYQ8;E9PDJ8|.	FAT2_HUMAN;.|.	P|S	3991|763	ENSP00000261800:T3991P|.	ENSP00000261800:T3991P|.	T|Y	-|-	1|2	0|0	FAT2|FAT2	150869863|150869863	0.964000|0.964000	0.33143|0.33143	0.913000|0.913000	0.36048|0.36048	0.055000|0.055000	0.15305|0.15305	1.647000|1.647000	0.37260|0.37260	0.886000|0.886000	0.36113|0.36113	0.533000|0.533000	0.62120|0.62120	ACT|TAC		0.522	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		6	141	0	0	0	1	0	6	141					G	150889670	T	G	150889670	3	3	18	1	0	0	0	0	1	0	0	0	5698	1638	57	4	1090	4	FAT2	5	150889670	Missense_Mutation	SNP	T	TCGA-N6-A4VE-01A-11D-A28R-08	12606726	150889670	30025590	23	1254										
OR5V1	81696	broad.mit.edu	37	chr6	29323301	29323301	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	gaggactggatcctcaagatGgtggagattatgcaaatgta	13	5	1	2			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:29323301G>T	ENST00000377154.1	-	4	971	c.672C>A	c.(670-672)acC>acA	p.T224T	OR5V1_ENST00000543825.1_Silent_p.T224T			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCTCAAGATGGTGGAGATTA	0.468																																					Ovarian(32;43 883 21137 32120 42650)	ENST00000377154.1																			0				breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(670-672)acC>acA		olfactory receptor, family 5, subfamily V, member 1							94	84	87					6																	29323301		2203	4300	6503	SO:0001819	synonymous_variant	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323301G>T		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.672C>A	6.37:g.29323301G>T			Somatic				OR5V1_ENST00000543825.1_Silent_p.T224T	p.T224T			WXS	Illumina GAIIx	Phase_I	Q9UGF6	OR5V1_HUMAN			4	971	-			224					A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Silent	SNP	ENST00000377154.1	37	c.672C>A	CCDS4657.1																																																																																				0.468	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			29	163	1	0	1.16021e-09	1	1.28912e-09	29	163					T	29323301	G	T	29323301	2	4	18	1	0	0	0	0	0	0	0	1	11193	1335	47	5		5	OR5V1	6	29323301	Silent	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08		29323301	141791766	24	1255										
RDBP	7936	broad.mit.edu	37	chr6	31922417	31922417	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	cgatctcgatcccgatcccgAtccctgtcccgctctctgtc	7	19	2	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:31922417A>T	ENST00000375429.3	-	7	883	c.657T>A	c.(655-657)gaT>gaA	p.D219E	NELFE_ENST00000444811.2_Missense_Mutation_p.D189E|MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000375425.5_Missense_Mutation_p.D226E	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	219	30 X 2 AA approximate tandem repeats of R-[DSNE].				gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D219>?(1)									cccgatcccgatccctgtccc	0.642																																						ENST00000375429.3																			1	Complex(1)	p.D219>?(1)	large_intestine(1)								c.(655-657)gaT>gaA		negative elongation factor complex member E							39	39	39					6																	31922417		2203	4300	6503	SO:0001583	missense	7936							g.chr6:31922417A>T	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.657T>A	6.37:g.31922417A>T	ENSP00000364578:p.Asp219Glu		Somatic				NELFE_ENST00000444811.2_Missense_Mutation_p.D189E|NELFE_ENST00000375425.5_Missense_Mutation_p.D226E	p.D219E	NM_002904.5	NP_002895.3	WXS	Illumina GAIIx	Phase_I					7	883	-								A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	c.657T>A	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	A	2.555	-0.303102	0.05495	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913;ENST00000436289	T;T;T;T;T;T	0.61627	0.09;0.09;1.27;0.09;3.41;3.41	5.57	-11.1	0.00147	.	0.182059	0.44483	N	0.000458	T	0.08714	0.0216	N	0.25789	0.76	0.23712	N	0.99704	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.26780	-1.0093	10	0.05833	T	0.94	-3.2587	9.0315	0.36262	0.1025:0.1406:0.6172:0.1397	.	189;214;214;219	B4DUN1;A2ABK1;E9PCL7;P18615	.;.;.;NELFE_HUMAN	E	219;226;189;214;219;214	ENSP00000364578:D219E;ENSP00000364574:D226E;ENSP00000388400:D189E;ENSP00000397914:D214E;ENSP00000409389:D219E;ENSP00000414029:D214E	ENSP00000364574:D226E	D	-	3	2	RDBP	32030396	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.133000	0.03232	-4.150000	0.00069	-1.936000	0.00505	GAT		0.642	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			15	53	0	0	0	1	0	15	53					T	31922417	A	T	31922417	3	4	18	1	0	0	0	0	1	0	0	0	13203	330	12	4	505	4	RDBP	6	31922417	Missense_Mutation	SNP	A	TCGA-N6-A4VE-01A-11D-A28R-08	2599116	31922417	139192650	25	1256										
PRPH2	5961	broad.mit.edu	37	chr6	42689572	42689572	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	cagtcccgaaaaccgttgttGccgcagcatttgaactcgat	9	12	0	1			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:42689572G>T	ENST00000230381.5	-	1	740	c.501C>A	c.(499-501)ggC>ggA	p.G167G		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	167			G -> D (in PDREP; butterfly-shaped). {ECO:0000269|PubMed:8485574}.|G -> S (in PDREP; butterfly-shaped). {ECO:0000269|PubMed:16024869}.		cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				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)			AACCGTTGTTGCCGCAGCATT	0.502																																						ENST00000230381.5																			0				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.(499-501)ggC>ggA		peripherin 2 (retinal degeneration, slow)							152	138	143					6																	42689572		2203	4300	6503	SO:0001819	synonymous_variant	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42689572G>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.501C>A	6.37:g.42689572G>T			Somatic					p.G167G	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	740	-	Colorectal(47;0.196)		167		G -> D (in PDREP; butterfly-shaped).|G -> S (in PDREP; butterfly-shaped).			Q5TFH5|Q6DK65	Silent	SNP	ENST00000230381.5	37	c.501C>A	CCDS4871.1																																																																																				0.502	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		22	234	1	0	7.41877e-09	1	8.06388e-09	22	234					T	42689572	G	T	42689572	2	4	18	1	0	0	0	0	0	0	0	1	12589	1306	46	5		5	PRPH2	6	42689572	Silent	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	10767155	42689572	128425495	26	1257										
GABRR2	2570	broad.mit.edu	37	chr6	90024791	90024791	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ccttggcttgggcatttccaCctgccctgtccatcgcttcc	8	17	0	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:90024791C>A	ENST00000402938.3	-	1	227	c.94G>T	c.(94-96)Gtg>Ttg	p.V32L	GABRR2_ENST00000602399.1_Missense_Mutation_p.V57L|GABRR2_ENST00000602808.1_5'UTR	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	32					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)	GGCATTTCCACCTGCCCTGTC	0.507																																						ENST00000402938.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(94-96)Gtg>Ttg		gamma-aminobutyric acid (GABA) A receptor, rho 2							236	229	231					6																	90024791		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.chr6:90024791C>A		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4091	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 2"	137162	"gamma-aminobutyric acid (GABA) receptor, rho 2"			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.94G>T	6.37:g.90024791C>A	ENSP00000386029:p.Val32Leu		Somatic				GABRR2_ENST00000602808.1_5'UTR|GABRR2_ENST00000602399.1_Missense_Mutation_p.V57L	p.V32L			WXS	Illumina GAIIx	Phase_I	P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	1	227	-		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)	57					A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.94G>T	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.953144	0.00470	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.52	3.74	0.42951	.	0.408118	0.22565	N	0.058412	T	0.03564	0.0102	N	0.01048	-1.04	0.29182	N	0.876407	B	0.02656	0.0	B	0.01281	0.0	T	0.43718	-0.9374	8	.	.	.	.	10.5357	0.45002	0.0:0.3143:0.5527:0.133	.	57	P28476	GBRR2_HUMAN	L	57	.	.	V	-	1	0	GABRR2	90081510	1.000000	0.71417	0.998000	0.56505	0.104000	0.19210	1.176000	0.31957	0.673000	0.31224	-0.955000	0.02649	GTG		0.507	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			10	215	1	0	1.58986e-06	1	1.70953e-06	10	215					A	90024791	C	A	90024791	3	1	18	1	0	0	0	0	1	0	0	0	6185	507	18	5	1339	5	GABRR2	6	90024791	Missense_Mutation	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08	47335219	90024791	81090276	27	1258										
FNDC1	84624	broad.mit.edu	37	chr6	159642727	159642727	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ctaacaaagcgaaagatttcAggtatgtttctaaggatgca	9	6	2	1			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:159642727A>T	ENST00000297267.9	+	6	965	c.765A>T	c.(763-765)tcA>tcT	p.S255S	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Splice_Site_p.S255S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	255	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)		GAAAGATTTCAGGTATGTTTC	0.453																																						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.e6+1		fibronectin type III domain containing 1							96	105	102					6																	159642727		1950	4144	6094	SO:0001630	splice_region_variant	84624					extracellular region		g.chr6:159642727A>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.766+1A>T	6.37:g.159642727A>T			Somatic				FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Splice_Site_p.S255_splice	p.S255_splice	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)	6	965	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	255					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Splice_Site	SNP	ENST00000297267.9	37	c.766_splice	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	A	17.27	3.345850	0.61073	.	.	ENSG00000164694	ENST00000329629	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.551	16.0034	0.80327	1.0:0.0:0.0:0.0	.	.	.	.	X	214	.	.	R	+	1	2	FNDC1	159562715	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.693000	0.84214	2.371000	0.80710	0.533000	0.62120	AGA		0.453	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	Silent	3	33	0	0	0	1	0	3	33					T	159642727	A	T	159642727	5	4	18	1	0	0	0	0	0	0	1	0	5976	202	7	4	787	4	FNDC1	6	159642727	Splice_Site	SNP	A	TCGA-N6-A4VE-01A-11D-A28R-08	69617936	159642727	11472340	28	1259										
PCLO	27445	broad.mit.edu	37	chr7	82764634	82764634	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	tcagcaacaggggccttgtcCtgctcagatgggacagaagg	14	10	2	2			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:82764634C>T	ENST00000333891.9	-	3	2569	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	PCLO_ENST00000423517.2_Silent_p.Q744Q	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						GGGCCTTGTCCTGCTCAGATG	0.517																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(2230-2232)caG>caA		piccolo presynaptic cytomatrix protein							123	114	117					7																	82764634		1929	4123	6052	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.chr7:82764634C>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.2232G>A	7.37:g.82764634C>T			Somatic				PCLO_ENST00000333891.8_Silent_p.Q744Q	p.Q744Q	NM_014510.2	NP_055325.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			3	2569	-			690			Pro-rich.			Silent	SNP	ENST00000333891.9	37	c.2232G>A	CCDS47630.1																																																																																				0.517	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		14	40	0	0	0	1	0	14	40					T	82764634	C	T	82764634	2	4	18	1	0	0	0	0	0	0	0	1	11592	680	24	3		3	PCLO	7	82764634	Silent	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08		82764634	76374029	29	1260										
GRM3	2913	broad.mit.edu	37	chr7	86416020	86416020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	gtggccagcgacggctggggCgcgcaggagagcatcatcaa	17	11	2	1			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:86416020C>T	ENST00000361669.2	+	3	2011	c.912C>T	c.(910-912)ggC>ggT	p.G304G	GRM3_ENST00000394720.2_Silent_p.G302G|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Silent_p.G176G|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Silent_p.G304G|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	304					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ACGGCTGGGGCGCGCAGGAGA	0.677																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(910-912)ggC>ggT		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						33	36	35					7																	86416020		2203	4299	6502	SO:0001819	synonymous_variant	0				synaptic transmission	integral to plasma membrane		g.chr7:86416020C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.912C>T	7.37:g.86416020C>T			Somatic				GRM3_ENST00000394720.2_Silent_p.G302G|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.G304G|GRM3_ENST00000536043.1_Silent_p.G176G	p.G304G	NM_000840.2	NP_000831.2	WXS	Illumina GAIIx	Phase_I	Q14832	GRM3_HUMAN			3	2011	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		304					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.912C>T	CCDS5600.1																																																																																				0.677	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			19	49	0	0	0	1	0	19	49					T	86416020	C	T	86416020	2	4	18	1	0	0	0	0	0	0	0	1	6807	755	27	1		1	GRM3	7	86416020	Silent	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08	3651386	86416020	72722643	30	1261										
ADAM22	53616	broad.mit.edu	37	chr7	87780297	87780297	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	gttgttctctttttcctagtGtgcccctaatattcataaaa	5	9	2	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:87780297G>A	ENST00000265727.7	+	19	1647	c.1568G>A	c.(1567-1569)tGt>tAt	p.C523Y	ADAM22_ENST00000315984.7_Splice_Site_p.C523Y|ADAM22_ENST00000398209.3_Splice_Site_p.C523Y|ADAM22_ENST00000398204.4_Splice_Site_p.C523Y|ADAM22_ENST00000398201.4_Splice_Site_p.C523Y			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	523	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTTTCCTAGTGTGCCCCTAAT	0.328																																						ENST00000398204.4																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.e19-1		ADAM metallopeptidase domain 22							188	174	178					7																	87780297		1838	4081	5919	SO:0001630	splice_region_variant	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87780297G>A	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1567-1G>A	7.37:g.87780297G>A			Somatic				ADAM22_ENST00000398201.4_Splice_Site_p.C523_splice|ADAM22_ENST00000265727.7_Splice_Site_p.C523_splice|ADAM22_ENST00000398209.3_Splice_Site_p.C523_splice|ADAM22_ENST00000315984.7_Splice_Site_p.C523_splice	p.C523_splice	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	WXS	Illumina GAIIx	Phase_I	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		19	1891	+	Esophageal squamous(14;0.00202)		523			Disintegrin.		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Splice_Site	SNP	ENST00000265727.7	37	c.1566_splice	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308189	0.81247	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	4.95	4.95	0.65309	Blood coagulation inhibitor, Disintegrin (6);	0.000000	0.85682	D	0.000000	D	0.91150	0.7213	H	0.99156	4.45	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	0.94971	0.8117	10	0.87932	D	0	.	17.3004	0.87181	0.0:0.0:1.0:0.0	.	575;523;523;523	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	Y	523;523;523;523;523;490	ENSP00000381262:C523Y;ENSP00000381260:C523Y;ENSP00000265727:C523Y;ENSP00000315900:C523Y;ENSP00000381267:C523Y;ENSP00000381261:C490Y	ENSP00000265727:C523Y	C	+	2	0	ADAM22	87618233	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.526000	0.90588	2.414000	0.81942	0.655000	0.94253	TGT		0.328	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723	Missense_Mutation	25	15	0	0	0	1	0	25	15					A	87780297	G	A	87780297	5	1	18	1	0	0	0	0	0	0	1	0	244	1391	48	3	1642	3	ADAM22	7	87780297	Splice_Site	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	1364277	87780297	71358366	31	1262										
TMEM130	222865	broad.mit.edu	37	chr7	98457843	98457843	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	tagagaaacaaggcggtcttGaggaagttgctcgggtcgtg	16	6	1	2			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:98457843G>C	ENST00000416379.2	-	3	514	c.510C>G	c.(508-510)ctC>ctG	p.L170L	TMEM130_ENST00000546258.1_Silent_p.L151L|TMEM130_ENST00000339375.4_Silent_p.L170L|TMEM130_ENST00000450876.1_Silent_p.L86L|TMEM130_ENST00000345589.4_Silent_p.L68L			Q8N3G9	TM130_HUMAN	transmembrane protein 130	170	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGGCGGTCTTGAGGAAGTTGC	0.592																																						ENST00000450876.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25						c.(256-258)ctC>ctG		transmembrane protein 130							109	94	99					7																	98457843		2203	4300	6503	SO:0001819	synonymous_variant	222865					Golgi membrane|integral to membrane		g.chr7:98457843G>C		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.510C>G	7.37:g.98457843G>C			Somatic				TMEM130_ENST00000339375.4_Silent_p.L170L|TMEM130_ENST00000345589.4_Silent_p.L68L|TMEM130_ENST00000546258.1_Silent_p.L151L|TMEM130_ENST00000416379.2_Silent_p.L170L	p.L86L			WXS	Illumina GAIIx	Phase_I	Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	1573	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		170					A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	ENST00000416379.2	37	c.258C>G	CCDS47650.1																																																																																				0.592	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		14	29	0	0	0	1	0	14	29					C	98457843	G	C	98457843	2	2	18	1	0	0	0	0	0	0	0	1	16058	1277	45	2		2	TMEM130	7	98457843	Silent	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	10677546	98457843	60680820	32	1263										
VPS13B	157680	broad.mit.edu	37	chr8	100733115	100733115	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	tttgaaattgcctggggtctAtgaagtcttattttataatg	9	4	2	2			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr8:100733115A>G	ENST00000358544.2	+	39	7076	c.6965A>G	c.(6964-6966)tAt>tGt	p.Y2322C	VPS13B_ENST00000357162.2_Missense_Mutation_p.Y2297C|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2322					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)			CCTGGGGTCTATGAAGTCTTA	0.348																																					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.(6964-6966)tAt>tGt		vacuolar protein sorting 13 homolog B (yeast)							38	38	38					8																	100733115		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100733115A>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.6965A>G	8.37:g.100733115A>G	ENSP00000351346:p.Tyr2322Cys		Somatic				VPS13B_ENST00000357162.2_Missense_Mutation_p.Y2297C|VPS13B_ENST00000395996.1_3'UTR	p.Y2322C	NM_017890.4	NP_060360.3	WXS	Illumina GAIIx	Phase_I	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		39	7076	+	Breast(36;3.73e-07)		2322					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.6965A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.299673	0.60195	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.75477	-0.93;-0.94	5.94	5.94	0.96194	.	0.142959	0.47455	D	0.000227	T	0.77343	0.4116	L	0.55481	1.735	0.80722	D	1	D;D	0.60575	0.988;0.979	P;P	0.49528	0.614;0.533	T	0.80127	-0.1512	10	0.72032	D	0.01	.	16.4055	0.83662	1.0:0.0:0.0:0.0	.	2297;2322	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	C	2297;2322	ENSP00000349685:Y2297C;ENSP00000351346:Y2322C	ENSP00000349685:Y2297C	Y	+	2	0	VPS13B	100802291	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.306000	0.59117	2.275000	0.75901	0.533000	0.62120	TAT		0.348	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		14	21	0	0	0	1	0	14	21					G	100733115	A	G	100733115	3	3	18	1	0	0	0	0	1	0	0	0	17205	449	16	4	7309	4	VPS13B	8	100733115	Missense_Mutation	SNP	A	TCGA-N6-A4VE-01A-11D-A28R-08		100733115	45630907	33	1264										
NFX1	4799	broad.mit.edu	37	chr9	33295250	33295250	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	cccattccaaaggatgacctCaatgaaagaccagcaaaatc	6	12	1	3			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:33295250C>T	ENST00000379540.3	+	2	920	c.858C>T	c.(856-858)ctC>ctT	p.L286L	NFX1_ENST00000379521.4_Silent_p.L286L|NFX1_ENST00000318524.6_Silent_p.L286L	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	286					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)		AGGATGACCTCAATGAAAGAC	0.512																																						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.(856-858)ctC>ctT		nuclear transcription factor, X-box binding 1							138	121	127					9																	33295250		2203	4300	6503	SO:0001819	synonymous_variant	0				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33295250C>T	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.858C>T	9.37:g.33295250C>T			Somatic				NFX1_ENST00000379521.4_Silent_p.L286L|NFX1_ENST00000318524.6_Silent_p.L286L	p.L286L	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)	2	920	+			286					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Silent	SNP	ENST00000379540.3	37	c.858C>T	CCDS6538.1																																																																																				0.512	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			26	17	0	0	0	1	0	26	17					T	33295250	C	T	33295250	2	4	18	1	0	0	0	0	0	0	0	1	10396	813	29	3		3	NFX1	9	33295250	Silent	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08		33295250	107918181	34	1265										
BRD3	8019	broad.mit.edu	37	chr9	136915512	136915512	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	tcaccttgacgacaggcggcGtaggagggaccacggggacg	17	11	1	1	rs200384607		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:136915512G>T	ENST00000303407.7	-	5	883	c.698C>A	c.(697-699)aCg>aAg	p.T233K	BRD3_ENST00000357885.2_Missense_Mutation_p.T233K|BRD3_ENST00000371834.2_Missense_Mutation_p.T233K	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	233					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GACAGGCGGCGTAGGAGGGAC	0.692			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(697-699)aCg>aAg		bromodomain containing 3							56	57	57					9																	136915512		2203	4299	6502	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136915512G>T		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.698C>A	9.37:g.136915512G>T	ENSP00000305918:p.Thr233Lys		Somatic				BRD3_ENST00000357885.2_Missense_Mutation_p.T233K|BRD3_ENST00000371834.2_Missense_Mutation_p.T233K	p.T233K	NM_007371.3	NP_031397.1	WXS	Illumina GAIIx	Phase_I	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	5	883	-			233					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.698C>A	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.901112	0.33535	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885	T;T;T	0.59906	0.23;0.23;0.23	4.88	4.88	0.63580	.	0.150982	0.46145	D	0.000310	T	0.50803	0.1637	M	0.66297	2.02	0.44908	D	0.99792	B;B	0.32160	0.023;0.358	B;B	0.26770	0.017;0.073	T	0.54357	-0.8306	10	0.02654	T	1	-19.3921	17.3626	0.87355	0.0:0.0:1.0:0.0	.	233;233	Q15059-2;Q15059	.;BRD3_HUMAN	K	233	ENSP00000305918:T233K;ENSP00000360900:T233K;ENSP00000350557:T233K	ENSP00000305918:T233K	T	-	2	0	BRD3	135905333	1.000000	0.71417	0.887000	0.34795	0.123000	0.20343	7.622000	0.83099	2.404000	0.81709	0.491000	0.48974	ACG		0.692	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		57	2	1	0	1.74971e-23	1	2.10809e-23	57	2					T	136915512	G	T	136915512	3	4	18	1	0	0	0	0	1	0	0	0	1505	1145	40	5	1514	5	BRD3	9	136915512	Missense_Mutation	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	103620262	136915512	4297919	35	1266										
MAN1B1	11253	broad.mit.edu	37	chr9	139981513	139981513	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ctctcagtcggacttcctgaCgccgccagtgggcggggccc	14	16	1	1			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:139981513C>G	ENST00000371589.4	+	1	135	c.62C>G	c.(61-63)aCg>aGg	p.T21R	MAN1B1_ENST00000474902.1_5'Flank|AL807752.1_ENST00000596585.1_5'Flank	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	21					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|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 quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GACTTCCTGACGCCGCCAGTG	0.687																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(61-63)aCg>aGg		mannosidase, alpha, class 1B, member 1							15	20	18					9																	139981513		2193	4271	6464	SO:0001583	missense	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:139981513C>G	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"endoplasmic reticulum alpha-mannosidase 1", "alpha 1,2-mannosidase", "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1", "ER alpha 1,2-mannosidase", "Man9GlcNAc2-specific processing alpha-mannosidase"	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.62C>G	9.37:g.139981513C>G	ENSP00000360645:p.Thr21Arg		Somatic					p.T21R	NM_016219.4	NP_057303.2	WXS	Illumina GAIIx	Phase_I	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	1	135	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	21					Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	ENST00000371589.4	37	c.62C>G	CCDS7029.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776948	0.49786	.	.	ENSG00000177239	ENST00000371589	T	0.20463	2.07	3.25	2.3	0.28687	.	.	.	.	.	T	0.11836	0.0288	N	0.22421	0.69	0.80722	D	1	P	0.50272	0.933	B	0.40038	0.317	T	0.07731	-1.0757	9	0.51188	T	0.08	.	5.5361	0.17011	0.2008:0.6853:0.0:0.1139	.	21	Q9UKM7	MA1B1_HUMAN	R	21	ENSP00000360645:T21R	ENSP00000360645:T21R	T	+	2	0	MAN1B1	139101334	0.464000	0.25807	0.994000	0.49952	0.373000	0.29922	0.257000	0.18369	0.645000	0.30675	0.462000	0.41574	ACG		0.687	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		4	10	0	0	0	1	0	4	10					G	139981513	C	G	139981513	3	3	18	1	0	0	0	0	1	0	0	0	9221	536	19	5	64	5	MAN1B1	9	139981513	Missense_Mutation	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08	3066001	139981513	1231918	36	1267										
CXCL12	6387	broad.mit.edu	37	chr10	44873206	44873206	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	cagggggaccattacacatcCccaggagagggccagctcca	12	14	0	1			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr10:44873206C>A	ENST00000374429.2	-	3	353				CXCL12_ENST00000395794.2_Silent_p.G138G|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000496375.1_5'Flank|AL137026.1_ENST00000593376.1_5'Flank|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000343575.6_3'UTR	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12						adult locomotory behavior (GO:0008344)|ameboidal cell migration (GO:0001667)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|motor neuron axon guidance (GO:0008045)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|patterning of blood vessels (GO:0001569)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of T cell migration (GO:2000406)|regulation of actin polymerization or depolymerization (GO:0008064)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|telencephalon cell migration (GO:0022029)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|CXCR chemokine receptor binding (GO:0045236)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Tinzaparin(DB06822)	ATTACACATCCCCAGGAGAGG	0.547																																						ENST00000395794.2																			0				endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(412-414)ggG>ggT		chemokine (C-X-C motif) ligand 12	Dexamethasone(DB01234)						34	35	34					10																	44873206		876	1991	2867	SO:0001627	intron_variant	6387				blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	g.chr10:44873206C>A	L36033	CCDS7207.1, CCDS31186.1, CCDS44373.1, CCDS53527.1, CCDS60518.1	10q11.1	2013-02-28	2010-05-11	2002-08-23	ENSG00000107562	ENSG00000107562		"Endogenous ligands"	10672	protein-coding gene	gene with protein product		600835	"stromal cell-derived factor 1"	SDF1A, SDF1B, SDF1		7490086	Standard	NM_001033886		Approved	SCYB12, SDF-1a, SDF-1b, PBSF, TLSF-a, TLSF-b, TPAR1	uc021ppm.1	P48061	OTTHUMG00000018054	ENST00000374429.2:c.266+878G>T	10.37:g.44873206C>A			Somatic				CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000343575.6_3'UTR	p.G138G	NM_001178134.1	NP_001171605.1	WXS	Illumina GAIIx	Phase_I	P48061	SDF1_HUMAN			4	457	-			0					B2R4G0|E7EVL0|H7BYN8|Q2L985|Q2L986|Q2L988|Q5IT36|Q6ICW0|Q9H554	Silent	SNP	ENST00000374429.2	37	c.414G>T	CCDS44373.1																																																																																				0.547	CXCL12-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047738.2	NM_000609		16	11	1	0	4.14922e-12	1	4.88143e-12	16	11					A	44873206	C	A	44873206	1	1	18	0	1	0	0	0	0	0	0	0	4082	610	22	5		5	CXCL12	10	44873206	Intron	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08		44873206	90661541	37	1268										
HIF1AN	55662	broad.mit.edu	37	chr10	102300458	102300458	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	tcatggacttcttaggttttAactggaactggattaataag	9	5	2	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr10:102300458A>C	ENST00000299163.6	+	3	596	c.496A>C	c.(496-498)Aac>Cac	p.N166H	HIF1AN_ENST00000528044.1_3'UTR	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	166	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)		CTTAGGTTTTAACTGGAACTG	0.448																																						ENST00000299163.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10						c.(496-498)Aac>Cac		hypoxia inducible factor 1, alpha subunit inhibitor							168	158	161					10																	102300458		2203	4300	6503	SO:0001583	missense	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.chr10:102300458A>C	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.496A>C	10.37:g.102300458A>C	ENSP00000299163:p.Asn166His		Somatic				HIF1AN_ENST00000528044.1_3'UTR	p.N166H	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)	3	596	+		Colorectal(252;0.234)	166			Interaction with HIF1A.|Interaction with VHL.|JmjC.		D3DR69|Q5W147|Q969Q7|Q9NPV5	Missense_Mutation	SNP	ENST00000299163.6	37	c.496A>C	CCDS7498.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.825940	0.90955	.	.	ENSG00000166135	ENST00000533589;ENST00000299163;ENST00000442724	T;T	0.72394	-0.65;-0.65	5.61	5.61	0.85477	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	L	0.41710	1.295	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.75274	-0.3375	10	0.29301	T	0.29	-27.3597	15.8028	0.78468	1.0:0.0:0.0:0.0	.	166	Q9NWT6	HIF1N_HUMAN	H	59;166;199	ENSP00000433360:N59H;ENSP00000299163:N166H	ENSP00000299163:N166H	N	+	1	0	HIF1AN	102290448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.134000	0.65973	0.459000	0.35465	AAC		0.448	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049865.5	NM_017902		39	7	0	0	0	1	0	39	7					C	102300458	A	C	102300458	3	2	18	1	0	0	0	0	1	0	0	0	7113	362	13	4	506	4	HIF1AN	10	102300458	Missense_Mutation	SNP	A	TCGA-N6-A4VE-01A-11D-A28R-08	57427252	102300458	33234289	38	1269										
OR4C3	256144	broad.mit.edu	37	chr11	48347056	48347056	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ttggttcagctcctcctggtCctttggttgcccttctgtgg	11	12	2	0	rs558757638	byFrequency	TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:48347056C>A	ENST00000319856.4	+	1	585	c.564C>A	c.(562-564)gtC>gtA	p.V188V		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCCTCCTGGTCCTTTGGTTGC	0.517																																						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.(562-564)gtC>gtA		olfactory receptor, family 4, subfamily C, member 3							167	152	157					11																	48347056		2201	4298	6499	SO:0001819	synonymous_variant	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347056C>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.564C>A	11.37:g.48347056C>A			Somatic					p.V188V	NM_001004702.1	NP_001004702.1	WXS	Illumina GAIIx	Phase_I	Q8NH37	OR4C3_HUMAN			1	585	+			161					B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	37	c.564C>A	CCDS31489.1																																																																																				0.517	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		7	83	1	0	1.02788e-11	1	1.18148e-11	7	83					A	48347056	C	A	48347056	2	1	18	1	0	0	0	0	0	0	0	1	11059	842	30	2		2	OR4C3	11	48347056	Silent	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08		48347056	86659460	39	1270										
SAPS3	55291	broad.mit.edu	37	chr11	68326128	68326128	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	tccagatattgctgactttaCttgagacacgacgaccaacg	8	11	0	3			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:68326128C>T	ENST00000393800.2	+	8	1080	c.826C>T	c.(826-828)Ctt>Ttt	p.L276F	PPP6R3_ENST00000265636.5_Missense_Mutation_p.L276F|PPP6R3_ENST00000529710.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000527403.2_Missense_Mutation_p.L276F|PPP6R3_ENST00000524904.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000265637.4_Missense_Mutation_p.L276F|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000524845.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000393799.2_Missense_Mutation_p.L276F|PPP6R3_ENST00000393801.3_Missense_Mutation_p.L276F	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	276					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						GCTGACTTTACTTGAGACACG	0.358																																						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.(826-828)Ctt>Ttt		protein phosphatase 6, regulatory subunit 3							116	107	110					11																	68326128		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68326128C>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.826C>T	11.37:g.68326128C>T	ENSP00000377389:p.Leu276Phe		Somatic				PPP6R3_ENST00000527403.2_Missense_Mutation_p.L276F|PPP6R3_ENST00000265637.4_Missense_Mutation_p.L276F|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000393800.2_Missense_Mutation_p.L276F|PPP6R3_ENST00000529710.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000524904.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000524845.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000393801.3_Missense_Mutation_p.L276F|PPP6R3_ENST00000265636.5_Missense_Mutation_p.L276F	p.L276F			WXS	Illumina GAIIx	Phase_I	Q5H9R7	PP6R3_HUMAN			8	1093	+			276					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.826C>T	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873569	0.51695	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T	0.69561	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.41;-0.41;-0.32;1.0	5.45	5.45	0.79879	.	0.116625	0.64402	D	0.000004	T	0.71074	0.3297	L	0.48986	1.54	0.58432	D	0.999991	P;P;P;P;B;P	0.50617	0.937;0.937;0.681;0.566;0.146;0.927	P;P;P;P;B;P	0.54100	0.654;0.742;0.519;0.521;0.05;0.519	T	0.72646	-0.4230	10	0.66056	D	0.02	.	12.7424	0.57261	0.0:0.9258:0.0:0.0742	.	276;276;276;276;276;276	Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;PP6R3_HUMAN;.;.	F	276;276;276;276;276;276;276;276;276;7	ENSP00000377388:L276F;ENSP00000377389:L276F;ENSP00000431415:L276F;ENSP00000265637:L276F;ENSP00000433058:L276F;ENSP00000377390:L276F;ENSP00000265636:L276F;ENSP00000437329:L276F;ENSP00000433565:L276F;ENSP00000436209:L7F	ENSP00000265636:L276F	L	+	1	0	PPP6R3	68082704	1.000000	0.71417	0.967000	0.41034	0.993000	0.82548	4.288000	0.59007	2.836000	0.97738	0.655000	0.94253	CTT		0.358	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		20	60	0	0	0	1	0	20	60					T	68326128	C	T	68326128	3	4	18	1	0	0	0	0	1	0	0	0	13853	565	20	3	848	3	SAPS3	11	68326128	Missense_Mutation	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08	19979072	68326128	66680388	40	1271										
IL18BP	10068	broad.mit.edu	37	chr11	71712330	71712332	+	In_Frame_Del	DEL	ATT	ATT	-													0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ggctgggcaatggttccttcAttgagcacctcccaggccga							TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:71712330_71712332delATT	ENST00000393703.4	+	4	856_858	c.319_321delATT	c.(319-321)attdel	p.I107del	IL18BP_ENST00000497194.2_In_Frame_Del_p.I107del|IL18BP_ENST00000531053.1_In_Frame_Del_p.I107del|IL18BP_ENST00000404792.1_In_Frame_Del_p.I107del|IL18BP_ENST00000337131.5_In_Frame_Del_p.I107del|IL18BP_ENST00000393707.4_Intron|IL18BP_ENST00000260049.5_In_Frame_Del_p.I107del|IL18BP_ENST00000393705.4_In_Frame_Del_p.I107del	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein	107	Ig-like C2-type.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TGGTTCCTTCATTGAGCACCTCC	0.611																																						ENST00000497194.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						c.(319-321)del		interleukin 18 binding protein																																				SO:0001651	inframe_deletion	10068				T-helper 1 type immune response	extracellular region	interleukin-18 binding|receptor antagonist activity	g.chr11:71712330_71712332delATT	AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5987	protein-coding gene	gene with protein product	"MC51L-53L-54L homolog gene product"	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713	ENST00000393703.4:c.319_321delATT	11.37:g.71712330_71712332delATT	ENSP00000377306:p.Ile107del		Somatic				IL18BP_ENST00000260049.5_In_Frame_Del_p.I107del|IL18BP_ENST00000393703.4_In_Frame_Del_p.I107del|IL18BP_ENST00000531053.1_In_Frame_Del_p.I107del|IL18BP_ENST00000393705.4_In_Frame_Del_p.I107del|IL18BP_ENST00000393707.4_Intron|IL18BP_ENST00000337131.5_In_Frame_Del_p.I107del|IL18BP_ENST00000404792.1_In_Frame_Del_p.I107del	p.I107del			WXS	Illumina GAIIx	Phase_I	O95998	I18BP_HUMAN			3	1691_1693	+			107			Ig-like C2-type.		B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	In_Frame_Del	DEL	ENST00000393703.4	37	c.319_321delATT	CCDS8206.2																																																																																				0.611	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042		30	26						30	26	---	---	---	---	-	71712332	ATT	-	71712330	7	5	18	1	0	1	0	1	0	0	0	0	7655	217	8	0	329	0	IL18BP	11	71712330	In_Frame_Del	DEL	ATT	TCGA-N6-A4VE-01A-11D-A28R-08	3386202	71712330	63294186	41	1272										
PHLDB1	23187	broad.mit.edu	37	chr11	118506246	118506246	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ggagcaaggctgagctgctcCgcagcatcgccaagaggaag	15	11	0	2			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:118506246C>G	ENST00000361417.2	+	11	2926	c.2515C>G	c.(2515-2517)Cgc>Ggc	p.R839G	AP002954.3_ENST00000530198.1_RNA|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.R839G	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	839										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)		TGAGCTGCTCCGCAGCATCGC	0.632																																						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.(2515-2517)Cgc>Ggc		pleckstrin homology-like domain, family B, member 1							27	29	28					11																	118506246		2200	4293	6493	SO:0001583	missense	23187							g.chr11:118506246C>G		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.2515C>G	11.37:g.118506246C>G	ENSP00000354498:p.Arg839Gly		Somatic				PHLDB1_ENST00000356063.5_Missense_Mutation_p.R839G|PHLDB1_ENST00000534672.1_3'UTR	p.R839G	NM_015157.3	NP_055972.1	WXS	Illumina GAIIx	Phase_I	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	11	2926	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	839					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.2515C>G	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255010	0.59321	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063	T;T	0.52754	0.65;0.65	4.71	4.71	0.59529	.	0.155191	0.53938	D	0.000059	T	0.54351	0.1853	L	0.58101	1.795	0.80722	D	1	P;B;D;D	0.64830	0.468;0.001;0.968;0.994	B;B;P;P	0.49226	0.113;0.003;0.487;0.603	T	0.58498	-0.7626	10	0.46703	T	0.11	-19.1824	18.0302	0.89281	0.0:1.0:0.0:0.0	.	583;839;839;839	Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	G	839;598;203;839	ENSP00000354498:R839G;ENSP00000348359:R839G	ENSP00000348359:R839G	R	+	1	0	PHLDB1	118011456	0.577000	0.26708	1.000000	0.80357	0.974000	0.67602	1.208000	0.32345	2.301000	0.77427	0.467000	0.42956	CGC		0.632	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		17	56	0	0	0	1	0	17	56					G	118506246	C	G	118506246	3	3	18	1	0	0	0	0	1	0	0	0	11860	652	23	5	2549	5	PHLDB1	11	118506246	Missense_Mutation	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08	46793916	118506246	16500270	42	1273										
CHD4	1108	broad.mit.edu	37	chr12	6696569	6696569	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	cccccatttcttcttcccgtAccacatactgggccactttg	5	17	2	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:6696569A>C	ENST00000357008.2	-	25	4023	c.3860T>G	c.(3859-3861)gTa>gGa	p.V1287G	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.V1280G|CHD4_ENST00000544484.1_Missense_Mutation_p.V1284G|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000309577.6_Missense_Mutation_p.V1287G	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1287					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						TTCTTCCCGTACCACATACTG	0.448																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(3859-3861)gTa>gGa		chromodomain helicase DNA binding protein 4							175	152	160					12																	6696569		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.chr12:6696569A>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.3860T>G	12.37:g.6696569A>C	ENSP00000349508:p.Val1287Gly		Somatic				CHD4_ENST00000544484.1_Missense_Mutation_p.V1284G|CHD4_ENST00000357008.2_Missense_Mutation_p.V1287G|CHD4_ENST00000544040.1_Missense_Mutation_p.V1280G|CHD4_ENST00000540960.1_5'UTR	p.V1287G			WXS	Illumina GAIIx	Phase_I	Q14839	CHD4_HUMAN			25	4023	-			1287					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3860T>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187363	0.57909	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.91011	-2.72;-2.77;-2.72;-2.76	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000001	D	0.94046	0.8092	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.997;0.998;0.994	D	0.94608	0.7802	10	0.87932	D	0	-7.7215	16.1189	0.81329	1.0:0.0:0.0:0.0	.	1287;1287;1280	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	G	1284;1280;1287;1287;1261	ENSP00000440392:V1284G;ENSP00000440542:V1280G;ENSP00000312419:V1287G;ENSP00000349508:V1287G	ENSP00000312419:V1287G	V	-	2	0	CHD4	6566830	1.000000	0.71417	0.942000	0.38095	0.987000	0.75469	8.930000	0.92872	2.208000	0.71279	0.459000	0.35465	GTA		0.448	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		35	66	0	0	0	1	0	35	66					C	6696569	A	C	6696569	3	2	18	1	0	0	0	0	1	0	0	0	3329	391	14	4	1942	4	CHD4	12	6696569	Missense_Mutation	SNP	A	TCGA-N6-A4VE-01A-11D-A28R-08		6696569	127155326	43	1274										
A2ML1	144568	broad.mit.edu	37	chr12	8995770	8995770	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	cttagtatataatccggaacAagtgccacgttactaccaaa	6	10	0	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:8995770A>C	ENST00000299698.7	+	12	1469	c.1289A>C	c.(1288-1290)cAa>cCa	p.Q430P	A2ML1_ENST00000539547.1_5'Flank	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AATCCGGAACAAGTGCCACGT	0.483																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(1288-1290)cAa>cCa		alpha-2-macroglobulin-like 1							99	100	100					12																	8995770		1972	4150	6122	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8995770A>C	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1289A>C	12.37:g.8995770A>C	ENSP00000299698:p.Gln430Pro		Somatic					p.Q430P	NM_144670.4	NP_653271.2	WXS	Illumina GAIIx	Phase_I	B3KVV6	B3KVV6_HUMAN			12	1469	+			274						Missense_Mutation	SNP	ENST00000299698.7	37	c.1289A>C	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	5.934	0.356362	0.11239	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	T	0.32753	1.44	4.24	0.169	0.15017	.	0.754309	0.11361	N	0.571934	T	0.20700	0.0498	L	0.36672	1.1	0.09310	N	1	B	0.30542	0.284	B	0.30179	0.112	T	0.21143	-1.0254	10	0.33940	T	0.23	.	5.8823	0.18862	0.563:0.1434:0.0:0.2936	.	430	A8K2U0	A2ML1_HUMAN	P	430	ENSP00000299698:Q430P	ENSP00000299698:Q430P	Q	+	2	0	A2ML1	8887037	0.000000	0.05858	0.000000	0.03702	0.617000	0.37484	-0.176000	0.09811	0.022000	0.15160	0.459000	0.35465	CAA		0.483	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		54	45	0	0	0	1	0	54	45					C	8995770	A	C	8995770	3	2	18	1	0	0	0	0	1	0	0	0	5	130	5	4	1335	4	A2ML1	12	8995770	Missense_Mutation	SNP	A	TCGA-N6-A4VE-01A-11D-A28R-08	2299201	8995770	124856125	44	1275										
TAS2R30	259293	broad.mit.edu	37	chr12	11286029	11286029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ggatgaatgggtgggttgaaGgatagctgaatataatagct	15	2	0	3			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:11286029G>A	ENST00000539585.1	-	1	1214	c.815C>T	c.(814-816)cCt>cTt	p.P272L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	272					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						GTGGGTTGAAGGATAGCTGAA	0.413																																						ENST00000539585.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						c.(814-816)cCt>cTt		taste receptor, type 2, member 30							140	148	145					12																	11286029		2147	4276	6423	SO:0001583	missense	259293							g.chr12:11286029G>A	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.815C>T	12.37:g.11286029G>A	ENSP00000444736:p.Pro272Leu		Somatic				TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.P272L	NM_001097643.1	NP_001091112.1	WXS	Illumina GAIIx	Phase_I					1	1214	-								Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	c.815C>T	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	12.98	2.100577	0.37048	.	.	ENSG00000256188	ENST00000539585	T	0.44083	0.93	2.7	2.7	0.31948	.	.	.	.	.	T	0.49864	0.1582	M	0.69248	2.105	0.21020	N	0.999807	P	0.45011	0.848	P	0.50825	0.651	T	0.34551	-0.9824	9	0.51188	T	0.08	.	8.941	0.35729	0.0:0.0:1.0:0.0	.	272	P59541	T2R30_HUMAN	L	272	ENSP00000444736:P272L	ENSP00000444736:P272L	P	-	2	0	TAS2R30	11177296	0.999000	0.42202	0.084000	0.20598	0.048000	0.14542	5.144000	0.64832	1.516000	0.48900	0.313000	0.20887	CCT		0.413	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		94	52	0	0	0	1	0	94	52					A	11286029	G	A	11286029	3	1	18	1	0	0	0	0	1	0	0	0	15588	1000	35	3	148	3	TAS2R30	12	11286029	Missense_Mutation	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	2290259	11286029	122565866	45	1276			1	3		2	2	17	N	T_G	4.031352e-05
TAS2R30	259293	broad.mit.edu	37	chr12	11286045	11286045	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	tgaaggatagctgaatataaTagcttggcagaacatgaaga	11	4	0	5			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:11286045T>C	ENST00000539585.1	-	1	1198	c.799A>G	c.(799-801)Att>Gtt	p.I267V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	267					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						CTGAATATAATAGCTTGGCAG	0.398																																						ENST00000539585.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						c.(799-801)Att>Gtt		taste receptor, type 2, member 30							136	145	142					12																	11286045		2180	4291	6471	SO:0001583	missense	259293							g.chr12:11286045T>C	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.799A>G	12.37:g.11286045T>C	ENSP00000444736:p.Ile267Val		Somatic				TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.I267V	NM_001097643.1	NP_001091112.1	WXS	Illumina GAIIx	Phase_I					1	1198	-								Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	c.799A>G	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	1.444	-0.566746	0.03910	.	.	ENSG00000256188	ENST00000539585	T	0.37235	1.21	2.7	-5.4	0.02656	.	.	.	.	.	T	0.18593	0.0446	N	0.17674	0.51	0.09310	N	1	B	0.17038	0.02	B	0.17979	0.02	T	0.19353	-1.0308	9	0.28530	T	0.3	.	6.9895	0.24748	0.0:0.1256:0.2429:0.6314	.	267	P59541	T2R30_HUMAN	V	267	ENSP00000444736:I267V	ENSP00000444736:I267V	I	-	1	0	TAS2R30	11177312	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.353000	0.02617	-1.898000	0.01100	-0.908000	0.02827	ATT		0.398	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		97	58	0	0	0	1	0	97	58					C	11286045	T	C	11286045	3	2	18	1	0	0	0	0	1	0	0	0	15588	1406	49	4	164	4	TAS2R30	12	11286045	Missense_Mutation	SNP	T	TCGA-N6-A4VE-01A-11D-A28R-08	16	11286045	122565850	46	1277			1	3		2	2	17	N	T_G	4.031352e-05
PPHLN1	51535	broad.mit.edu	37	chr12	42745780	42745780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	acaatagatattacagtcatGttgattaccgagactatgac	7	7	1	4			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:42745780G>A	ENST00000395568.2	+	3	250	c.166G>A	c.(166-168)Gtt>Att	p.V56I	PPHLN1_ENST00000358314.7_Missense_Mutation_p.V56I|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000549190.1_Missense_Mutation_p.V74I|PPHLN1_ENST00000395580.3_Missense_Mutation_p.V63I|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000449194.2_Missense_Mutation_p.V56I|PPHLN1_ENST00000256678.8_Intron	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	56					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TTACAGTCATGTTGATTACCG	0.423																																						ENST00000395568.2																			0				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(166-168)Gtt>Att		periphilin 1							101	94	97					12																	42745780		2203	4300	6503	SO:0001583	missense	51535				keratinization	cytoplasm|nucleus		g.chr12:42745780G>A	AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.166G>A	12.37:g.42745780G>A	ENSP00000378935:p.Val56Ile		Somatic				PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000358314.7_Missense_Mutation_p.V56I|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000549190.1_Missense_Mutation_p.V74I|PPHLN1_ENST00000449194.2_Missense_Mutation_p.V56I|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.V63I	p.V56I	NM_016488.6	NP_057572.5	WXS	Illumina GAIIx	Phase_I	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	3	250	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	56					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	ENST00000395568.2	37	c.166G>A	CCDS31777.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.600052	0.46318	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000358314;ENST00000395568;ENST00000449194;ENST00000546750;ENST00000547847	.	.	.	6.17	6.17	0.99709	.	0.420221	0.22532	N	0.058828	T	0.53932	0.1827	L	0.51422	1.61	0.80722	D	1	P;B;B;B;B	0.43788	0.817;0.435;0.041;0.041;0.041	B;B;B;B;B	0.41764	0.366;0.115;0.011;0.011;0.011	T	0.51957	-0.8639	9	0.37606	T	0.19	-0.7418	13.2728	0.60170	0.0743:0.0:0.9257:0.0	.	56;56;56;63;74	Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-2;F8W0Q9	PPHLN_HUMAN;.;.;.;.	I	74;63;56;56;56;63;56	.	ENSP00000351066:V56I	V	+	1	0	PPHLN1	41032047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.710000	0.47169	2.941000	0.99782	0.655000	0.94253	GTT		0.423	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		15	30	0	0	0	1	0	15	30					A	42745780	G	A	42745780	3	1	18	1	0	0	0	0	1	0	0	0	12324	1377	48	3	197	3	PPHLN1	12	42745780	Missense_Mutation	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	31459735	42745780	91106115	47	1278										
PUS7L	83448	broad.mit.edu	37	chr12	44148360	44148360	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	tatcaggtttaaaggtaaatTtggaattttctttctttgca	7	4	3	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:44148360T>G	ENST00000416848.2	-	2	1177	c.689A>C	c.(688-690)aAa>aCa	p.K230T	PUS7L_ENST00000553166.1_Missense_Mutation_p.K230T|PUS7L_ENST00000344862.5_Missense_Mutation_p.K230T|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_Missense_Mutation_p.K230T	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	230					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)		AAAGGTAAATTTGGAATTTTC	0.308																																						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.(688-690)aAa>aCa		pseudouridylate synthase 7 homolog (S. cerevisiae)-like							78	78	78					12																	44148360		2203	4299	6502	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148360T>G	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.689A>C	12.37:g.44148360T>G	ENSP00000415899:p.Lys230Thr		Somatic				PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.K230T|PUS7L_ENST00000551923.1_Missense_Mutation_p.K230T|PUS7L_ENST00000553166.1_Missense_Mutation_p.K230T	p.K230T	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	1177	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	230					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.689A>C	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	T	3.494	-0.103163	0.06967	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166	T;T;T;T	0.24151	1.9;1.9;1.9;1.87	5.35	-1.29	0.09288	Pseudouridine synthase, catalytic domain (1);	0.578483	0.19983	N	0.101731	T	0.09379	0.0231	N	0.08118	0	0.47037	D	0.999291	B	0.06786	0.001	B	0.04013	0.001	T	0.28396	-1.0045	10	0.15066	T	0.55	-12.1335	6.6428	0.22919	0.0:0.3374:0.2435:0.4191	.	230	Q9H0K6	PUS7L_HUMAN	T	230	ENSP00000415899:K230T;ENSP00000343081:K230T;ENSP00000447706:K230T;ENSP00000446865:K230T	ENSP00000343081:K230T	K	-	2	0	PUS7L	42434627	0.137000	0.22531	0.937000	0.37676	0.965000	0.64279	0.452000	0.21795	-0.275000	0.09219	-0.256000	0.11100	AAA		0.308	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		6	40	0	0	0	1	0	6	40					G	44148360	T	G	44148360	3	3	18	1	0	0	0	0	1	0	0	0	12849	1841	64	4	1448	4	PUS7L	12	44148360	Missense_Mutation	SNP	T	TCGA-N6-A4VE-01A-11D-A28R-08	1402580	44148360	89703535	48	1279										
ACVR1B	91	broad.mit.edu	37	chr12	52387803	52387803	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ggggaagatgatgcgagagtGttggtatgccaacggcgcag	18	6	0	3			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:52387803G>T	ENST00000257963.4	+	9	1504	c.1427G>T	c.(1426-1428)tGt>tTt	p.C476F	ACVR1B_ENST00000542485.1_Missense_Mutation_p.C424F|ACVR1B_ENST00000541224.1_Missense_Mutation_p.C517F	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	476	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)	ATGCGAGAGTGTTGGTATGCC	0.607																																						ENST00000257963.4																			0				breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44						c.(1426-1428)tGt>tTt		activin A receptor, type IB	Adenosine triphosphate(DB00171)						145	126	132					12																	52387803		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.chr12:52387803G>T		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1427G>T	12.37:g.52387803G>T	ENSP00000257963:p.Cys476Phe		Somatic				ACVR1B_ENST00000541224.1_Missense_Mutation_p.C517F|ACVR1B_ENST00000542485.1_Missense_Mutation_p.C424F	p.C476F	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)	9	1504	+			476			Protein kinase.		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.1427G>T	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061714	0.76187	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000542485	D;D;D	0.95238	-3.65;-3.65;-3.65	5.3	5.3	0.74995	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	0.98686	0.9559	H	0.99117	4.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.99679	1.0998	10	0.87932	D	0	.	18.9733	0.92724	0.0:0.0:1.0:0.0	.	517;476	P36896-4;P36896	.;ACV1B_HUMAN	F	476;517;424	ENSP00000257963:C476F;ENSP00000442656:C517F;ENSP00000442885:C424F	ENSP00000257963:C476F	C	+	2	0	ACVR1B	50674070	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.869000	0.99810	2.487000	0.83934	0.467000	0.42956	TGT		0.607	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328		59	51	1	0	2.14255e-21	1	2.55065e-21	59	51					T	52387803	G	T	52387803	3	4	18	1	0	0	0	0	1	0	0	0	221	1377	48	5	1588	5	ACVR1B	12	52387803	Missense_Mutation	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	8239443	52387803	81464092	49	1280										
NR4A1	3164	broad.mit.edu	37	chr12	52448894	52448894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ggcccggagcggggccccagGtggaagtgaaggccgctgtg	20	11	0	1			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:52448894G>A	ENST00000243050.1	+	3	1096	c.782G>A	c.(781-783)gGt>gAt	p.G261D	NR4A1_ENST00000550082.1_Missense_Mutation_p.G274D|NR4A1_ENST00000360284.3_Missense_Mutation_p.G274D|NR4A1_ENST00000545748.1_Missense_Mutation_p.G315D|NR4A1_ENST00000394824.2_Missense_Mutation_p.G261D|NR4A1_ENST00000394825.1_Missense_Mutation_p.G261D|NR4A1_ENST00000548232.1_Missense_Mutation_p.G261D	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	261					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGGGCCCCAGGTGGAAGTGAA	0.612																																						ENST00000545748.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(943-945)gGt>gAt		nuclear receptor subfamily 4, group A, member 1							64	68	66					12																	52448894		2203	4300	6503	SO:0001583	missense	0				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52448894G>A	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"Nuclear hormone receptors"	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.782G>A	12.37:g.52448894G>A	ENSP00000243050:p.Gly261Asp		Somatic				NR4A1_ENST00000243050.1_Missense_Mutation_p.G261D|NR4A1_ENST00000548232.1_Missense_Mutation_p.G261D|NR4A1_ENST00000360284.3_Missense_Mutation_p.G274D|NR4A1_ENST00000550082.1_Missense_Mutation_p.G274D|NR4A1_ENST00000394824.2_Missense_Mutation_p.G261D|NR4A1_ENST00000394825.1_Missense_Mutation_p.G261D	p.G315D			WXS	Illumina GAIIx	Phase_I	P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	3	1939	+			261					B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	ENST00000243050.1	37	c.944G>A	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990619	0.35131	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824;ENST00000548232	D;D;D;D;D;D;D	0.93076	-3.13;-3.15;-3.13;-3.13;-3.13;-3.13;-3.16	4.47	2.53	0.30540	.	0.810228	0.11560	N	0.551830	D	0.84790	0.5550	N	0.08118	0	0.32495	N	0.539678	P;B;P	0.46706	0.883;0.136;0.883	B;B;B	0.41571	0.255;0.066;0.36	T	0.80471	-0.1368	10	0.18710	T	0.47	.	12.3572	0.55182	0.0:0.3267:0.6733:0.0	.	274;261;261	B4DML7;P22736;Q15627	.;NR4A1_HUMAN;.	D	274;315;274;261;261;261;261	ENSP00000353427:G274D;ENSP00000440864:G315D;ENSP00000449539:G274D;ENSP00000243050:G261D;ENSP00000378302:G261D;ENSP00000378301:G261D;ENSP00000449587:G261D	ENSP00000243050:G261D	G	+	2	0	NR4A1	50735161	0.065000	0.20965	0.301000	0.25044	0.931000	0.56810	0.923000	0.28757	0.559000	0.29153	0.561000	0.74099	GGT		0.612	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			45	48	0	0	0	1	0	45	48					A	52448894	G	A	52448894	3	1	18	1	0	0	0	0	1	0	0	0	10641	1261	44	3	784	3	NR4A1	12	52448894	Missense_Mutation	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	61091	52448894	81403001	50	1281										
BLOC1S1	2647	broad.mit.edu	37	chr12	56109922	56109922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ccccagcccgacgtgaccatGctgtcccgcctcctaaaaga	8	18	0	2			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:56109922G>A	ENST00000548925.1	+	1	102	c.87G>A	c.(85-87)atG>atA	p.M29I	BLOC1S1_ENST00000257899.2_Start_Codon_SNP_p.M1I|BLOC1S1_ENST00000547076.1_5'Flank|RP11-644F5.10_ENST00000549424.1_5'Flank|BLOC1S1_ENST00000551926.1_5'Flank|BLOC1S1_ENST00000548556.1_5'Flank|BLOC1S1_ENST00000549147.1_Missense_Mutation_p.M29I|RP11-644F5.10_ENST00000550412.1_Missense_Mutation_p.M29I			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	29					aerobic respiration (GO:0009060)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|peptidyl-lysine acetylation (GO:0018394)|platelet dense granule organization (GO:0060155)|post-Golgi vesicle-mediated transport (GO:0006892)	BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)				breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						ACGTGACCATGCTGTCCCGCC	0.657																																					Colon(112;1254 2715 13015)	ENST00000550412.1																			0				endometrium(1)|lung(1)	2						c.(85-87)atG>atA									41	40	41					12																	56109922		2201	4300	6501	SO:0001583	missense	0							g.chr12:56109922G>A	S82447	CCDS8889.1, CCDS8889.2	12q13-q14	2012-08-01	2008-08-11	2004-05-26		ENSG00000135441		"Biogenesis of lysosomal organelles complex-1 subunits"	4200	protein-coding gene	gene with protein product	"GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1", "BLOC-1 Subunit 1", "Biogenesis of Lysosome-related Organelles complex-1 Subunit 1"	601444	"GCN5 general control of amino-acid synthesis 5-like 1 (yeast)"	GCN5L1		8646881, 15102850	Standard	NM_001487		Approved	BLOS1	uc001shi.4	P78537		ENST00000548925.1:c.87G>A	12.37:g.56109922G>A	ENSP00000447537:p.Met29Ile		Somatic				BLOC1S1_ENST00000549147.1_Missense_Mutation_p.M29I|BLOC1S1_ENST00000257899.2_Start_Codon_SNP_p.M1I|BLOC1S1_ENST00000548925.1_Missense_Mutation_p.M29I	p.M29I			WXS	Illumina GAIIx	Phase_I					1	103	+								A1L4Q9|Q6NZ45	Missense_Mutation	SNP	ENST00000548925.1	37	c.87G>A	CCDS8889.2	.	.	.	.	.	.	.	.	.	.	G	33	5.195110	0.94960	.	.	ENSG00000258311;ENSG00000135441;ENSG00000135441;ENSG00000135441	ENST00000550412;ENST00000257899;ENST00000548925;ENST00000549147	T;T	0.41065	1.01;1.01	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	N	0.08118	0	0.80722	D	1	P;P;D	0.63880	0.908;0.655;0.993	B;B;D	0.72982	0.337;0.173;0.979	T	0.55438	-0.8141	10	0.72032	D	0.01	-33.9082	16.4849	0.84182	0.0:0.0:1.0:0.0	.	29;29;29	F8VP73;F8W036;P78537	.;.;BL1S1_HUMAN	I	29;1;29;29	ENSP00000447650:M29I;ENSP00000450328:M29I	ENSP00000257899:M1I	M	+	3	0	RP11-644F5.10;BLOC1S1	54396189	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	8.351000	0.90072	2.835000	0.97688	0.650000	0.86243	ATG		0.657	BLOC1S1-001	KNOWN	downstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406681.1	NM_001487		15	16	0	0	0	1	0	15	16					A	56109922	G	A	56109922	3	1	18	1	0	0	0	0	1	0	0	0	1448	1319	46	3	5	3	BLOC1S1	12	56109922	Missense_Mutation	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	3661028	56109922	77741973	51	1282										
RILPL1	353116	broad.mit.edu	37	chr12	124008056	124008056	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	acttaccttcatgcttctggAactcctcctctgagaaattg	6	12	3	1			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:124008056A>T	ENST00000376874.4	-	2	681	c.446T>A	c.(445-447)tTc>tAc	p.F149Y		NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	149					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		ATGCTTCTGGAACTCCTCCTC	0.577																																						ENST00000376874.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(445-447)tTc>tAc		Rab interacting lysosomal protein-like 1							89	93	92					12																	124008056		2071	4200	6271	SO:0001583	missense	353116				neuroprotection	cytosol		g.chr12:124008056A>T	AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.446T>A	12.37:g.124008056A>T	ENSP00000366070:p.Phe149Tyr		Somatic					p.F149Y	NM_178314.3	NP_847884.2	WXS	Illumina GAIIx	Phase_I	Q5EBL4	RIPL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)	2	681	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		149					Q66K36|Q8N1M0	Missense_Mutation	SNP	ENST00000376874.4	37	c.446T>A	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	A	1.891	-0.455358	0.04540	.	.	ENSG00000188026	ENST00000376874	T	0.44083	0.93	5.01	5.01	0.66863	JNK/Rab-associated protein-1, N-terminal (1);	0.080268	0.51477	D	0.000096	T	0.23572	0.0570	N	0.22421	0.69	0.80722	D	1	P;B	0.38420	0.63;0.065	B;B	0.31495	0.131;0.06	T	0.12785	-1.0534	10	0.02654	T	1	-4.3975	15.0613	0.71955	1.0:0.0:0.0:0.0	.	125;149	Q5EBL4-2;Q5EBL4	.;RIPL1_HUMAN	Y	149	ENSP00000366070:F149Y	ENSP00000366070:F149Y	F	-	2	0	RILPL1	122574009	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	5.781000	0.68964	2.015000	0.59207	0.533000	0.62120	TTC		0.577	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314		22	79	0	0	0	1	0	22	79					T	124008056	A	T	124008056	3	4	18	1	0	0	0	0	1	0	0	0	13376	246	9	4	789	4	RILPL1	12	124008056	Missense_Mutation	SNP	A	TCGA-N6-A4VE-01A-11D-A28R-08	67898134	124008056	9843839	52	1283										
ELF1	1997	broad.mit.edu	37	chr13	41507845	41507845	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	tgcagtagcactgaaggatgGagaggaagccacactgacgg	15	8	0	3			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr13:41507845G>C	ENST00000239882.3	-	9	1890	c.1576C>G	c.(1576-1578)Cca>Gca	p.P526A	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.P502A	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	526					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CTGAAGGATGGAGAGGAAGCC	0.512																																						ENST00000239882.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1576-1578)Cca>Gca		E74-like factor 1 (ets domain transcription factor)							102	95	98					13																	41507845		2203	4300	6503	SO:0001583	missense	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41507845G>C	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1576C>G	13.37:g.41507845G>C	ENSP00000239882:p.Pro526Ala		Somatic				ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.P502A	p.P526A	NM_172373.3	NP_758961.1	WXS	Illumina GAIIx	Phase_I	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	9	1890	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	526					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	c.1576C>G	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	g	13.02	2.113297	0.37339	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.24350	1.87;1.86	5.63	4.79	0.61399	.	0.132058	0.52532	N	0.000062	T	0.42787	0.1218	L	0.36672	1.1	0.37597	D	0.920415	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.50398	-0.8833	10	0.62326	D	0.03	.	16.7814	0.85563	0.0:0.1291:0.8709:0.0	.	502;526	E9PDQ9;P32519	.;ELF1_HUMAN	A	502;268;526	ENSP00000405580:P502A;ENSP00000239882:P526A	ENSP00000239882:P526A	P	-	1	0	ELF1	40405845	1.000000	0.71417	0.940000	0.37924	0.605000	0.37080	2.928000	0.48908	1.392000	0.46585	-0.187000	0.12897	CCA		0.512	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		45	4	0	0	0	1	0	45	4					C	41507845	G	C	41507845	3	2	18	1	0	0	0	0	1	0	0	0	5055	1174	41	2	287	2	ELF1	13	41507845	Missense_Mutation	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08		41507845	73662033	53	1284										
MYCBP2	23077	broad.mit.edu	37	chr13	77713331	77713331	+	De_novo_Start_OutOfFrame	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	taaaaccaccttttacttacGtcaacagggaccagaagact	6	11	1	2			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr13:77713331G>A	ENST00000360084.5	-	0	7637				MYCBP2_ENST00000357337.6_Splice_Site_p.D2515D|MYCBP2_ENST00000407578.2_Splice_Site_p.D2553D|MYCBP2_ENST00000544440.2_Splice_Site_p.D2515D					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)		TTTTACTTACGTCAACAGGGA	0.383																																						ENST00000360084.5																			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								MYC binding protein 2, E3 ubiquitin protein ligase							146	134	138					13																	77713331		2203	4300	6503			23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77713331G>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	ENST00000360084.5:c.-67C>T	13.37:g.77713331G>A			Somatic				MYCBP2_ENST00000544440.2_Splice_Site_p.D2515_splice|MYCBP2_ENST00000357337.6_Splice_Site_p.D2515_splice|MYCBP2_ENST00000407578.2_Splice_Site_p.D2553_splice				WXS	Illumina GAIIx	Phase_I	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	0	7637	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)							Translation_Start_Site	SNP	ENST00000360084.5	37																																																																																						0.383	MYCBP2-202	KNOWN	basic	protein_coding	protein_coding		NM_015057		4	76	0	0	0	1	0	4	76					A	77713331	G	A	77713331	1	1	18	1	0	1	0	0	0	0	0	0	10027	1159	40	1		1	MYCBP2	13	77713331	De_novo_Start_OutOfFrame	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	36205486	77713331	37456547	54	1285										
OR4L1	122742	broad.mit.edu	37	chr14	20528715	20528715	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	gaacttgcctttctgtggccAcaatgtcataaacaacatat	6	10	2	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:20528715A>G	ENST00000315683.1	+	1	512	c.512A>G	c.(511-513)cAc>cGc	p.H171R		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTCTGTGGCCACAATGTCATA	0.398																																						ENST00000315683.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(511-513)cAc>cGc		olfactory receptor, family 4, subfamily L, member 1							182	167	172					14																	20528715		2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528715A>G		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.512A>G	14.37:g.20528715A>G	ENSP00000319217:p.His171Arg		Somatic					p.H171R	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	512	+	all_cancers(95;0.00108)		171					Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.512A>G	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	7.912	0.736685	0.15574	.	.	ENSG00000176246	ENST00000315683	T	0.36699	1.24	4.37	0.447	0.16608	GPCR, rhodopsin-like superfamily (1);	0.821904	0.10695	N	0.644745	T	0.31040	0.0784	N	0.17631	0.505	0.09310	N	1	B	0.26318	0.146	B	0.38156	0.266	T	0.49532	-0.8930	10	0.87932	D	0	.	12.29	0.54812	0.3175:0.6825:0.0:0.0	.	171	Q8NH43	OR4L1_HUMAN	R	171	ENSP00000319217:H171R	ENSP00000319217:H171R	H	+	2	0	OR4L1	19598555	0.000000	0.05858	0.809000	0.32408	0.394000	0.30568	0.424000	0.21330	0.318000	0.23185	0.528000	0.53228	CAC		0.398	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			62	66	0	0	0	1	0	62	66					G	20528715	A	G	20528715	3	3	18	1	0	0	0	0	1	0	0	0	11083	159	6	4	514	4	OR4L1	14	20528715	Missense_Mutation	SNP	A	TCGA-N6-A4VE-01A-11D-A28R-08		20528715	86820825	55	1286										
MDGA2	161357	broad.mit.edu	37	chr14	47324352	47324352	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	caaacgtagataaacatttaAgacacctaaaaatgacaata	4	7	0	3			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:47324352A>C	ENST00000399232.2	-	15	2915	c.2551T>G	c.(2551-2553)Tta>Gta	p.L851V	MDGA2_ENST00000399222.3_Missense_Mutation_p.L53V|MDGA2_ENST00000357362.3_Missense_Mutation_p.L622V|MDGA2_ENST00000426342.1_Missense_Mutation_p.L622V|MDGA2_ENST00000439988.3_Missense_Mutation_p.L920V	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	851	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				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						TAAACATTTAAGACACCTAAA	0.308																																						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.(1864-1866)Tta>Gta		MAM domain containing glycosylphosphatidylinositol anchor 2							92	84	87					14																	47324352		1800	4058	5858	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47324352A>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.2551T>G	14.37:g.47324352A>C	ENSP00000382178:p.Leu851Val		Somatic				MDGA2_ENST00000357362.3_Missense_Mutation_p.L622V|MDGA2_ENST00000439988.2_Missense_Mutation_p.L851V|MDGA2_ENST00000399222.3_Missense_Mutation_p.L53V|MDGA2_ENST00000399232.2_Missense_Mutation_p.L920V	p.L622V	NM_182830.3	NP_878250.2	WXS	Illumina GAIIx	Phase_I	Q7Z553	MDGA2_HUMAN			15	2610	-			851			Ig-like 6.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1864T>G		.	.	.	.	.	.	.	.	.	.	A	15.29	2.788457	0.49997	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19	4.49	3.34	0.38264	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.218062	0.22284	U	0.062097	T	0.20210	0.0486	M	0.86953	2.85	0.48901	D	0.999726	P	0.41366	0.747	P	0.47786	0.557	T	0.00569	-1.1666	10	0.62326	D	0.03	.	8.2822	0.31906	0.9018:0.0:0.0982:0.0	.	851	Q7Z553	MDGA2_HUMAN	V	851;622;920;53;622	ENSP00000400011:L851V;ENSP00000405456:L622V;ENSP00000382178:L920V;ENSP00000382168:L53V;ENSP00000349925:L622V	ENSP00000349925:L622V	L	-	1	2	MDGA2	46394102	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	2.953000	0.49105	0.679000	0.31345	0.455000	0.32223	TTA		0.308	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		5	23	0	0	0	1	0	5	23					C	47324352	A	C	47324352	3	2	18	1	0	0	0	0	1	0	0	0	9416	69	3	4	331	4	MDGA2	14	47324352	Missense_Mutation	SNP	A	TCGA-N6-A4VE-01A-11D-A28R-08	26795637	47324352	60025188	56	1287										
DICER1	23405	broad.mit.edu	37	chr14	95557638	95557638	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	cagcaagcgactcaaaaataTcccccatggcctttggaact	7	13	1	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:95557638T>A	ENST00000526495.1	-	27	5720	c.5429A>T	c.(5428-5430)gAt>gTt	p.D1810V	DICER1_ENST00000393063.1_Missense_Mutation_p.D1810V|DICER1_ENST00000343455.3_Missense_Mutation_p.D1810V|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000527414.1_Missense_Mutation_p.D1810V|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000556045.1_Missense_Mutation_p.D708V			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1810	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.		D -> H (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|D -> N (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|D -> Y (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.		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)	p.D1810A(1)		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)		CTCAAAAATATCCCCCATGGC	0.453			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			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"		1	Substitution - Missense(1)	p.D1810A(1)	endometrium(1)	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.(5428-5430)gAt>gTt		dicer 1, ribonuclease type III							225	231	229					14																	95557638		2203	4300	6503	SO:0001583	missense	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.chr14:95557638T>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5429A>T	14.37:g.95557638T>A	ENSP00000437256:p.Asp1810Val		Somatic				DICER1_ENST00000527414.1_Missense_Mutation_p.D1810V|DICER1_ENST00000343455.3_Missense_Mutation_p.D1810V|DICER1_ENST00000556045.1_Missense_Mutation_p.D708V|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000393063.1_Missense_Mutation_p.D1810V|DICER1_ENST00000527416.2_5'UTR	p.D1810V			WXS	Illumina GAIIx	Phase_I	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	27	5720	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1810			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5429A>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.701265	0.88924	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045	D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8	5.6	5.6	0.85130	Ribonuclease III (5);	0.050139	0.85682	D	0.000000	D	0.97654	0.9231	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99533	1.0961	10	0.87932	D	0	-24.389	15.7947	0.78401	0.0:0.0:0.0:1.0	.	708;1810	B3KRG4;Q9UPY3	.;DICER_HUMAN	V	1810;1810;1810;1810;708	ENSP00000343745:D1810V;ENSP00000437256:D1810V;ENSP00000376783:D1810V;ENSP00000435681:D1810V;ENSP00000451041:D708V	ENSP00000343745:D1810V	D	-	2	0	DICER1	94627391	1.000000	0.71417	0.913000	0.36048	0.917000	0.54804	7.521000	0.81832	2.106000	0.64143	0.533000	0.62120	GAT		0.453	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			115	122	0	0	0	1	0	115	122					A	95557638	T	A	95557638	3	1	18	1	0	0	0	0	1	0	0	0	4523	1435	50	4	351	4	DICER1	14	95557638	Missense_Mutation	SNP	T	TCGA-N6-A4VE-01A-11D-A28R-08	48233286	95557638	11791902	57	1288										
C15orf41	84529	broad.mit.edu	37	chr15	36872095	36872095	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	aagctcagtacgacgagataGcccagtgcctagtgtctgtg	12	10	2	1			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr15:36872095G>T	ENST00000566621.1	+	1	284	c.34G>T	c.(34-36)Gcc>Tcc	p.A12S	C15orf41_ENST00000437989.2_Missense_Mutation_p.A12S|C15orf41_ENST00000569302.1_Missense_Mutation_p.A12S	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	12										kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		CGACGAGATAGCCCAGTGCCT	0.567																																						ENST00000566621.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(34-36)Gcc>Tcc		chromosome 15 open reading frame 41							62	60	61					15																	36872095		1566	3579	5145	SO:0001583	missense	84529						protein binding	g.chr15:36872095G>T	BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.34G>T	15.37:g.36872095G>T	ENSP00000455397:p.Ala12Ser		Somatic				C15orf41_ENST00000569302.1_Missense_Mutation_p.A12S|C15orf41_ENST00000437989.2_Missense_Mutation_p.A12S	p.A12S	NM_001130010.1	NP_001123482.1	WXS	Illumina GAIIx	Phase_I	Q9Y2V0	CO041_HUMAN		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)	1	284	+		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)	12					B2RD87	Missense_Mutation	SNP	ENST00000566621.1	37	c.34G>T	CCDS45215.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202062	0.58234	.	.	ENSG00000186073	ENST00000437989	T	0.44083	0.93	5.35	5.35	0.76521	.	.	.	.	.	T	0.30008	0.0751	N	0.17474	0.49	0.80722	D	1	B	0.20671	0.047	B	0.13407	0.009	T	0.05225	-1.0898	9	0.44086	T	0.13	-2.8655	15.9204	0.79562	0.0:0.0:1.0:0.0	.	12	Q9Y2V0	CO041_HUMAN	S	12	ENSP00000401362:A12S	ENSP00000401362:A12S	A	+	1	0	C15orf41	34659387	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.167000	0.64972	2.785000	0.95823	0.591000	0.81541	GCC		0.567	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	NM_032499		8	11	1	0	1.26484e-09	1	1.38994e-09	8	11					T	36872095	G	T	36872095	3	4	18	1	0	0	0	0	1	0	0	0	1797	971	34	5	36	5	C15orf41	15	36872095	Missense_Mutation	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08		36872095	65659297	58	1289										
SPTBN5	51332	broad.mit.edu	37	chr15	42178339	42178339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ttggagtgctgtctgtagccGgaagagcagggcctctgcgg	17	9	2	1	rs368318926	byFrequency	TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr15:42178339G>A	ENST00000320955.6	-	7	1341	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	372					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)		GTCTGTAGCCGGAAGAGCAGG	0.672													G|||	2	0.000399361	0.0015	0	5008	,	,		17547	0		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.(1114-1116)Cgg>Tgg		spectrin, beta, non-erythrocytic 5		G	TRP/ARG	1,3971		0,1,1985	16	19	18		1009	1.8	0.3	15		18	1,8283		0,1,4141	no	missense	SPTBN5	NM_016642.2	101	0,2,6126	AA,AG,GG		0.0121,0.0252,0.0163	probably-damaging	337/3640	42178339	2,12254	1986	4142	6128	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42178339G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.1114C>T	15.37:g.42178339G>A	ENSP00000317790:p.Arg372Trp		Somatic					p.R372W	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)	7	1341	-		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)	372						Missense_Mutation	SNP	ENST00000320955.6	37	c.1114C>T		.	.	.	.	.	.	.	.	.	.	G	11.45	1.643692	0.29246	2.52E-4	1.21E-4	ENSG00000137877	ENST00000320955	T	0.50548	0.74	4.84	1.81	0.25067	.	1.018070	0.07895	N	0.971776	T	0.59945	0.2231	L	0.51422	1.61	0.09310	N	0.999998	D	0.89917	1.0	D	0.68765	0.96	T	0.45175	-0.9279	10	0.66056	D	0.02	.	7.9401	0.29952	0.0805:0.0:0.348:0.5715	.	372	Q9NRC6	SPTN5_HUMAN	W	372	ENSP00000317790:R372W	ENSP00000317790:R372W	R	-	1	2	SPTBN5	39965631	0.625000	0.27111	0.277000	0.24703	0.119000	0.20118	0.619000	0.24388	0.093000	0.17368	-0.140000	0.14226	CGG		0.672	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		12	1	0	0	0	1	0	12	1					A	42178339	G	A	42178339	3	1	18	1	0	0	0	0	1	0	0	0	15137	1115	39	1	10158	1	SPTBN5	15	42178339	Missense_Mutation	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	5306244	42178339	60353053	59	1290										
SYNGR3	9143	broad.mit.edu	37	chr16	2042103	2042103	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ttcggcgtcgcgctgggcctCggagccttcctcgcctgcgc	14	17	0	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr16:2042103C>G	ENST00000248121.2	+	2	386	c.228C>G	c.(226-228)ctC>ctG	p.L76L	SYNGR3_ENST00000562045.1_5'UTR	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	76	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				positive regulation of transporter activity (GO:0032411)|substantia nigra development (GO:0021762)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|synaptic vesicle (GO:0008021)				endometrium(1)|lung(2)	3						CGCTGGGCCTCGGAGCCTTCC	0.706																																						ENST00000248121.2																			0				endometrium(1)|lung(2)	3						c.(226-228)ctC>ctG		synaptogyrin 3							6	6	6					16																	2042103		2051	4083	6134	SO:0001819	synonymous_variant	9143				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle		g.chr16:2042103C>G	AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561			11501	protein-coding gene	gene with protein product		603927				9760194	Standard	NM_004209		Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.228C>G	16.37:g.2042103C>G			Somatic				SYNGR3_ENST00000562045.1_5'UTR	p.L76L	NM_004209.5	NP_004200.2	WXS	Illumina GAIIx	Phase_I	O43761	SNG3_HUMAN			2	386	+			76			MARVEL.		B2R9S0	Silent	SNP	ENST00000248121.2	37	c.228C>G	CCDS10456.1																																																																																				0.706	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1			10	5	0	0	0	1	0	10	5					G	2042103	C	G	2042103	2	3	18	1	0	0	0	0	0	0	0	1	15465	871	31	2		2	SYNGR3	16	2042103	Silent	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08		2042103	88312650	60	1291										
ANKFY1	51479	broad.mit.edu	37	chr17	4071081	4071086	+	In_Frame_Del	DEL	CCCCAC	CCCCAC	-													0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ccggggggctcactaagaaaCcccacccagagtcagtacat					rs189564576	byFrequency	TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:4071081_4071086delCCCCAC	ENST00000341657.4	-	25	3532_3537	c.3497_3502delGTGGGG	c.(3496-3504)ggtggggtt>gtt	p.GG1166del	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_In_Frame_Del_p.GG1208del|ANKFY1_ENST00000574367.1_In_Frame_Del_p.GG1167del	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1166					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CACTAAGAAACCCCACCCAGAGTCAG	0.544																																						ENST00000341657.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(3496-3504)gtt>g		ankyrin repeat and FYVE domain containing 1																																				SO:0001651	inframe_deletion	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4071081_4071086delCCCCAC	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.3497_3502delGTGGGG	17.37:g.4071081_4071086delCCCCAC	ENSP00000343362:p.Gly1166_Gly1167del		Somatic				ANKFY1_ENST00000574367.1_In_Frame_Del_p.GGV1167del|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_In_Frame_Del_p.GGV1208del	p.GGV1166del	NM_016376.3	NP_057460.3	WXS	Illumina GAIIx	Phase_I	Q9P2R3	ANFY1_HUMAN			25	3532_3537	-			1166					A8KA65|Q5RKV4|Q9ULG5	In_Frame_Del	DEL	ENST00000341657.4	37	c.3497_3502delGTGGGG																																																																																					0.544	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		19	4						19	4	---	---	---	---	-	4071086	CCCCAC	-	4071081	7	5	18	1	0	1	0	1	0	0	0	0	626	507	18	0	11	0	ANKFY1	17	4071081	In_Frame_Del	DEL	CCCCAC	TCGA-N6-A4VE-01A-11D-A28R-08		4071081	77124129	61	1292										
TP53	7157	broad.mit.edu	37	chr17	7577134	7577134	+	Frame_Shift_Del	DEL	G	G	-													0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	caaacacgcacctcaaagctGttccgtcccagtagattacc							TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:7577134delG	ENST00000269305.4	-	8	993	c.804delC	c.(802-804)aacfs	p.N268fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Frame_Shift_Del_p.N268fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.N268fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.N268fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N268fs	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	268	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> 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.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.N268N(2)|p.?(2)|p.G262_S269delGNLLGRNS(2)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTCAAAGCTGTTCCGTCCCA	0.537		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"		22	Deletion - In frame(8)|Whole gene deletion(8)|Unknown(2)|Substitution - coding silent(2)|Deletion - Frameshift(2)	p.0?(8)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.N268N(2)|p.?(2)|p.G262_S269delGNLLGRNS(2)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|urinary_tract(1)|oesophagus(1)|breast(1)|eye(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.(802-804)aafs	Other conserved DNA damage response genes	tumor protein p53							56	50	52					17																	7577134		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.chr17:7577134delG	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.804delC	17.37:g.7577134delG	ENSP00000269305:p.Asn268fs	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_ENST00000359597.4_Frame_Shift_Del_p.N268fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N268fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.N268fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.N268fs	p.N268fs	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	936	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	268		N -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> Y (in a sporadic cancer; 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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.804delC	CCDS11118.1																																																																																				0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	2						16	2	---	---	---	---	-	7577134	G	-	7577134	7	5	18	1	0	1	0	1	0	0	0	0	16396	1368	48	0	482	0	TP53	17	7577134	Frame_Shift_Del	DEL	G	TCGA-N6-A4VE-01A-11D-A28R-08	3506053	7577134	73618076	62	1293										
TP53	7157	broad.mit.edu	37	chr17	7577552	7577552	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ggcctccggttcatgccgccCatgcaggaactgttacacat	10	14	1	0	rs397516437		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:7577552C>A	ENST00000269305.4	-	7	918	c.729G>T	c.(727-729)atG>atT	p.M243I	TP53_ENST00000413465.2_Missense_Mutation_p.M243I|TP53_ENST00000420246.2_Missense_Mutation_p.M243I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.M243I|TP53_ENST00000359597.4_Missense_Mutation_p.M243I|TP53_ENST00000445888.2_Missense_Mutation_p.M243I	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	243	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		M -> I (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).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (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.M243I(7)|p.?(5)|p.M243_G244>IC(1)|p.M243fs*18(1)|p.G244fs*3(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.M243T(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(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)	TCATGCCGCCCATGCAGGAAC	0.582		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		29	Whole gene deletion(8)|Substitution - Missense(8)|Unknown(5)|Deletion - In frame(3)|Deletion - Frameshift(3)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.0?(8)|p.M243I(7)|p.?(5)|p.M243_G244>IC(1)|p.M243fs*18(1)|p.G244fs*3(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.M243T(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)	breast(6)|biliary_tract(5)|bone(4)|stomach(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|ovary(2)|liver(2)|urinary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(727-729)atG>atT	Other conserved DNA damage response genes	tumor protein p53							146	110	122					17																	7577552		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.chr17:7577552C>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.729G>T	17.37:g.7577552C>A	ENSP00000269305:p.Met243Ile	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.M243I|TP53_ENST00000455263.2_Missense_Mutation_p.M243I|TP53_ENST00000269305.4_Missense_Mutation_p.M243I|TP53_ENST00000445888.2_Missense_Mutation_p.M243I|TP53_ENST00000359597.4_Missense_Mutation_p.M243I	p.M243I	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	861	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	243		M -> I (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).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.729G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986310	0.74589	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	4.62	3.64	0.41730	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	0.99625	0.9863	M	0.71871	2.18	0.58432	D	0.999993	D;B;D;D;D;D	0.76494	0.999;0.035;0.995;0.999;0.997;0.987	D;B;D;D;D;D	0.91635	0.999;0.07;0.943;0.999;0.999;0.985	D	0.97818	1.0255	10	0.87932	D	0	-33.9746	12.2044	0.54345	0.1716:0.8284:0.0:0.0	.	243;243;150;243;243;243	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	243;243;243;243;243;243;232;150;111;150	ENSP00000410739:M243I;ENSP00000352610:M243I;ENSP00000269305:M243I;ENSP00000398846:M243I;ENSP00000391127:M243I;ENSP00000391478:M243I;ENSP00000425104:M111I;ENSP00000423862:M150I	ENSP00000269305:M243I	M	-	3	0	TP53	7518277	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.751000	0.55165	1.294000	0.44707	0.462000	0.41574	ATG		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		30	2	1	0	4.34311e-12	1	5.05012e-12	30	2					A	7577552	C	A	7577552	3	1	18	1	0	0	0	0	1	0	0	0	16396	594	21	5	561	5	TP53	17	7577552	Missense_Mutation	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08	418	7577552	73617658	63	1294										
SCPEP1	59342	broad.mit.edu	37	chr17	55062742	55062742	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	tcttctctcttccatagggcGgtccaggcggttctagcact	10	13	4	0	rs201362915		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:55062742G>T	ENST00000262288.3	+	3	284	c.229G>T	c.(229-231)Ggt>Tgt	p.G77C	RP5-1107A17.4_ENST00000572877.1_RNA|SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	77					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.G77S(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TCCATAGGGCGGTCCAGGCGG	0.423																																						ENST00000262288.3																			1	Substitution - Missense(1)	p.G77S(1)	large_intestine(1)	endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14						c.(229-231)Ggt>Tgt		serine carboxypeptidase 1							88	83	84					17																	55062742		2203	4300	6503	SO:0001583	missense	59342				proteolysis	extracellular region	serine-type carboxypeptidase activity	g.chr17:55062742G>T	AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"retinoid inducible serine carboxypeptidase"					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.229G>T	17.37:g.55062742G>T	ENSP00000262288:p.Gly77Cys		Somatic				SCPEP1_ENST00000571898.1_3'UTR	p.G77C	NM_021626.2	NP_067639.1	WXS	Illumina GAIIx	Phase_I	Q9HB40	RISC_HUMAN			3	284	+	Breast(9;2.86e-08)		77					Q96A94|Q9H3F0	Missense_Mutation	SNP	ENST00000262288.3	37	c.229G>T	CCDS11593.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519208	0.64634	.	.	ENSG00000121064	ENST00000262288	D	0.92249	-3.0	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.97620	0.9220	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98492	1.0610	10	0.87932	D	0	-21.411	19.59	0.95506	0.0:0.0:1.0:0.0	.	77	Q9HB40	RISC_HUMAN	C	77	ENSP00000262288:G77C	ENSP00000262288:G77C	G	+	1	0	SCPEP1	52417741	1.000000	0.71417	0.995000	0.50966	0.043000	0.13939	9.080000	0.94040	2.639000	0.89480	0.655000	0.94253	GGT		0.423	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1	NM_021626		17	51	1	0	5.01169e-05	1	5.27547e-05	17	51					T	55062742	G	T	55062742	3	4	18	1	0	0	0	0	1	0	0	0	13950	1116	39	5	239	5	SCPEP1	17	55062742	Missense_Mutation	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	47485190	55062742	26132468	64	1295										
PPAN	56342	broad.mit.edu	37	chr19	10221193	10221193	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	aggaggagctgcaggccatcCtggaagccaaggagaagaag	16	8	0	2	rs201708953		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:10221193C>A	ENST00000253107.7	+	10	1040	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	SNORD105B_ENST00000458770.1_RNA|P2RY11_ENST00000321826.4_5'Flank|PPAN_ENST00000556468.1_Missense_Mutation_p.L312M|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.L312M|SNORD105_ENST00000386910.1_RNA|PPAN_ENST00000393793.1_Missense_Mutation_p.L259M|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.L312M	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	312					RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L312V(4)		endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GCAGGCCATCCTGGAAGCCAA	0.667																																						ENST00000428358.1																			4	Substitution - Missense(4)	p.L312V(4)	liver(4)	breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(934-936)Ctg>Atg									18	21	20					19																	10221193		2200	4294	6494	SO:0001583	missense	0				RNA splicing	nucleolus	protein binding	g.chr19:10221193C>A	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"peter pan (Drosophila) homolog"			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.934C>A	19.37:g.10221193C>A	ENSP00000253107:p.Leu312Met		Somatic				PPAN_ENST00000556468.1_Missense_Mutation_p.L312M|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.L312M|PPAN_ENST00000393793.1_Missense_Mutation_p.L259M|PPAN_ENST00000253107.7_Missense_Mutation_p.L312M	p.L312M	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	WXS	Illumina GAIIx	Phase_I	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		10	1106	+			312					C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.934C>A	CCDS12225.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922146	0.52653	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793	T;T;T;T;T	0.62105	1.5;0.05;1.52;0.05;1.51	4.78	1.49	0.22878	.	.	.	.	.	T	0.67795	0.2931	L	0.49778	1.585	0.47737	D	0.999503	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.68192	0.942;0.956;0.956	T	0.63954	-0.6520	9	0.46703	T	0.11	-29.1495	7.3602	0.26742	0.0:0.6426:0.0:0.3574	.	312;312;312	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	M	312;312;312;312;312;259	ENSP00000411918:L312M;ENSP00000377385:L312M;ENSP00000253107:L312M;ENSP00000450710:L312M;ENSP00000377382:L259M	ENSP00000253107:L312M	L	+	1	2	PPAN;PPAN-P2RY11	10082193	0.134000	0.22483	0.998000	0.56505	0.690000	0.40134	0.647000	0.24812	0.444000	0.26612	-0.258000	0.10820	CTG		0.667	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		10	150	1	0	9.70103e-10	1	1.09e-09	10	150					A	10221193	C	A	10221193	3	1	18	1	0	0	0	0	1	0	0	0	12297	680	24	5	972	5	PPAN	19	10221193	Missense_Mutation	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08		10221193	48907790	65	1296										
GPATCH1	55094	broad.mit.edu	37	chr19	33604672	33604672	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	gattcttttttcaattcccaGttcaactttagttggcttac	5	9	3	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:33604672G>T	ENST00000170564.2	+	14	2206		c.e14-1			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)					TCAATTCCCAGTTCAACTTTA	0.433																																					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.e14-1		G patch domain containing 1							79	76	77					19																	33604672		2203	4300	6503	SO:0001630	splice_region_variant	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33604672G>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1893-1G>T	19.37:g.33604672G>T			Somatic						NM_018025.2	NP_060495.2	WXS	Illumina GAIIx	Phase_I	Q9BRR8	GPTC1_HUMAN			14	2206	+	Esophageal squamous(110;0.137)							Q8IZV6|Q8N3B7|Q9NW94	Splice_Site	SNP	ENST00000170564.2	37		CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919452	0.52653	.	.	ENSG00000076650	ENST00000170564	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.30965	N	0.723225	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6913	0.91583	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPATCH1	38296512	1.000000	0.71417	0.997000	0.53966	0.337000	0.28794	8.180000	0.89694	2.664000	0.90586	0.591000	0.81541	.		0.433	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	Intron	15	26	1	0	0.000422831	1	0.000435909	15	26					T	33604672	G	T	33604672	5	4	18	1	0	0	0	0	0	0	1	0	6598	1043	36	5	1946	5	GPATCH1	19	33604672	Splice_Site	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	23383479	33604672	25524311	66	1297										
DPF1	8193	broad.mit.edu	37	chr19	38713335	38713335	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ctcgatggcctcgcggtagaAgtcctcgcctaggctagagg	14	12	0	2			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:38713335A>C	ENST00000420980.2	-	2	150	c.124T>G	c.(124-126)Ttc>Gtc	p.F42V	DPF1_ENST00000414789.1_5'UTR|DPF1_ENST00000456296.1_Missense_Mutation_p.F16V|DPF1_ENST00000412732.1_5'UTR|DPF1_ENST00000355526.4_Missense_Mutation_p.F42V|DPF1_ENST00000416611.1_Missense_Mutation_p.F16V	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	42					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCGCGGTAGAAGTCCTCGCCT	0.731																																						ENST00000416611.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(46-48)Ttc>Gtc		D4, zinc and double PHD fingers family 1							21	22	21					19																	38713335		2198	4294	6492	SO:0001583	missense	0				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38713335A>C	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"Zinc fingers, PHD-type"	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.124T>G	19.37:g.38713335A>C	ENSP00000397354:p.Phe42Val		Somatic				DPF1_ENST00000414789.1_5'UTR|DPF1_ENST00000456296.1_Missense_Mutation_p.F16V|DPF1_ENST00000420980.2_Missense_Mutation_p.F42V|DPF1_ENST00000412732.1_5'UTR|DPF1_ENST00000355526.4_Missense_Mutation_p.F42V	p.F16V			WXS	Illumina GAIIx	Phase_I	Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		2	169	-	all_cancers(60;1.24e-06)		42					B3KSY8|Q08AJ0	Missense_Mutation	SNP	ENST00000420980.2	37	c.46T>G	CCDS33008.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	24.4|24.4	4.525714|4.525714	0.85600|0.85600	.|.	.|.	ENSG00000011332|ENSG00000011332	ENST00000420980;ENST00000437720;ENST00000416611;ENST00000456296;ENST00000434076|ENST00000355526	D;D;D|.	0.89617|.	-2.13;-2.08;-2.54|.	3.36|3.36	3.36|3.36	0.38483|0.38483	.|.	0.000000|.	0.64402|.	U|.	0.000004|.	T|T	0.61949|0.61949	0.2388|0.2388	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	P;P;D;D;D|.	0.89917|.	0.905;0.905;1.0;0.997;0.974|.	B;P;D;D;P|.	0.91635|.	0.378;0.593;0.999;0.984;0.908|.	T|T	0.60707|0.60707	-0.7210|-0.7210	10|5	0.36615|.	T|.	0.2|.	-14.8949|-14.8949	11.1913|11.1913	0.48687|0.48687	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	16;16;15;42;42|.	B4DMQ8;E9PDV3;C8C3P2;Q92782-2;Q92782|.	.;.;.;.;DPF1_HUMAN|.	V|R	42;42;16;16;16|34	ENSP00000397354:F42V;ENSP00000390223:F16V;ENSP00000411569:F16V|.	ENSP00000390223:F16V|.	F|L	-|-	1|2	0|0	DPF1|DPF1	43405175|43405175	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.053000|7.053000	0.76641|0.76641	1.548000|1.548000	0.49413|0.49413	0.324000|0.324000	0.21423|0.21423	TTC|CTT		0.731	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			8	13	0	0	0	1	0	8	13					C	38713335	A	C	38713335	3	2	18	1	0	0	0	0	1	0	0	0	4718	72	3	4	1194	4	DPF1	19	38713335	Missense_Mutation	SNP	A	TCGA-N6-A4VE-01A-11D-A28R-08	5108663	38713335	20415648	67	1298										
CEACAM20	125931	broad.mit.edu	37	chr19	45024554	45024554	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ctccgggcccggctgccccaGttccagacctcacaggcata	10	18	1	1			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:45024554G>C	ENST00000454753.1	-	0	1262							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)				GGCTGCCCCAGTTCCAGACCT	0.617																																						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							48	48	48					19																	45024554		1910	4125	6035			125931					integral to membrane		g.chr19:45024554G>C	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.45024554G>C			Somatic								WXS	Illumina GAIIx	Phase_I	Q6UY09	CEA20_HUMAN			0	1262	-		Prostate(69;0.0352)							RNA	SNP	ENST00000454753.1	37																																																																																						0.617	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		26	22	0	0	0	1	0	26	22					C	45024554	G	C	45024554	1	2	18	0	1	0	0	0	0	0	0	0	3193	1020	36	5		5	CEACAM20	19	45024554	RNA	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	6311219	45024554	14104429	68	1299										
ZNF808	388558	broad.mit.edu	37	chr19	53058029	53058029	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	aagagaattcatactggagaGaaaccatacagatgtcaggt	10	6	2	3			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:53058029G>A	ENST00000359798.4	+	5	2040	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	620					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(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ATACTGGAGAGAAACCATACA	0.398																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(1858-1860)gaG>gaA		zinc finger protein 808							52	56	55					19																	53058029		2194	4293	6487	SO:0001819	synonymous_variant	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53058029G>A	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1860G>A	19.37:g.53058029G>A			Somatic					p.E620E	NM_001039886.3	NP_001034975.2	WXS	Illumina GAIIx	Phase_I	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	2040	+			620					Q68CN7	Silent	SNP	ENST00000359798.4	37	c.1860G>A	CCDS46167.1																																																																																				0.398	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		35	34	0	0	0	1	0	35	34					A	53058029	G	A	53058029	2	1	18	1	0	0	0	0	0	0	0	1	18188	933	33	3		3	ZNF808	19	53058029	Silent	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	8033475	53058029	6070954	69	1300										
TNNT1	7138	broad.mit.edu	37	chr19	55653236	55653236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	gtcacttacatcgaagtcaaCgcgctccccttctgggatct	8	14	4	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:55653236C>T	ENST00000588981.1	-	7	385	c.181G>A	c.(181-183)Gtt>Att	p.V61I	TNNT1_ENST00000356783.5_Missense_Mutation_p.V50I|TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000291901.8_Missense_Mutation_p.V61I|TNNT1_ENST00000536926.1_Missense_Mutation_p.V50I|TNNT1_ENST00000587758.1_Missense_Mutation_p.V50I|TNNT1_ENST00000592920.1_5'UTR	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	61					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TCGAAGTCAACGCGCTCCCCT	0.602																																						ENST00000588981.1																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)	10						c.(181-183)Gtt>Att		troponin T type 1 (skeletal, slow)							101	106	104					19																	55653236		2203	4300	6503	SO:0001583	missense	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55653236C>T		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"slow skeletal muscle troponin T", "troponin T1, skeletal, slow", "nemaline myopathy type 5"	191041	"troponin T1, skeletal, slow"			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.181G>A	19.37:g.55653236C>T	ENSP00000467176:p.Val61Ile		Somatic				TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000536926.1_Missense_Mutation_p.V50I|TNNT1_ENST00000291901.8_Missense_Mutation_p.V61I|TNNT1_ENST00000587758.1_Missense_Mutation_p.V50I|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000356783.5_Missense_Mutation_p.V50I|TNNT1_ENST00000587465.2_5'UTR	p.V61I	NM_003283.4	NP_003274.3	WXS	Illumina GAIIx	Phase_I	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	7	385	-			61					O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	c.181G>A	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651441	0.67472	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000536926;ENST00000429737	D;D;D	0.99060	-5.38;-5.38;-5.38	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000001	D	0.99055	0.9676	M	0.73598	2.24	0.58432	D	0.999998	D;D;D;D	0.76494	0.997;0.998;0.999;0.999	D;D;D;D	0.78314	0.959;0.986;0.991;0.979	D	0.99157	1.0860	10	0.62326	D	0.03	-36.2816	13.6669	0.62401	0.0:1.0:0.0:0.0	.	61;50;61;61	Q56R94;P13805-2;P13805-3;P13805	.;.;.;TNNT1_HUMAN	I	61;50;50;76	ENSP00000291901:V61I;ENSP00000349233:V50I;ENSP00000439640:V50I	ENSP00000291901:V61I	V	-	1	0	TNNT1	60345048	1.000000	0.71417	0.985000	0.45067	0.333000	0.28666	5.492000	0.66893	1.860000	0.53959	0.462000	0.41574	GTT		0.602	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283		23	141	0	0	0	1	0	23	141					T	55653236	C	T	55653236	3	4	18	1	0	0	0	0	1	0	0	0	16345	536	19	1	687	1	TNNT1	19	55653236	Missense_Mutation	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08	2595207	55653236	3475747	70	1301										
ZNF418	147686	broad.mit.edu	37	chr19	58438844	58438844	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	tatttgctaaaggatttcccAcattcccagcaataacattc	4	11	0	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:58438844A>G	ENST00000396147.1	-	4	996	c.705T>C	c.(703-705)tgT>tgC	p.C235C	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000595830.1_Silent_p.C235C|ZNF418_ENST00000425570.3_Silent_p.C256C|ZNF418_ENST00000599852.1_Silent_p.C150C	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		AGGATTTCCCACATTCCCAGC	0.403																																						ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(703-705)tgT>tgC		zinc finger protein 418							79	77	77					19																	58438844		2132	4267	6399	SO:0001819	synonymous_variant	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58438844A>G	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.705T>C	19.37:g.58438844A>G			Somatic				ZNF418_ENST00000599852.1_Silent_p.C150C|ZNF418_ENST00000595830.1_Silent_p.C235C|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Silent_p.C256C	p.C235C	NM_133460.1	NP_597717.1	WXS	Illumina GAIIx	Phase_I	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	996	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	235					Q2M1S2|Q670L5|Q96N18	Silent	SNP	ENST00000396147.1	37	c.705T>C	CCDS42642.1																																																																																				0.403	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		11	55	0	0	0	1	0	11	55					G	58438844	A	G	58438844	2	3	18	1	0	0	0	0	0	0	0	1	17910	157	6	4		4	ZNF418	19	58438844	Silent	SNP	A	TCGA-N6-A4VE-01A-11D-A28R-08	2785608	58438844	690139	71	1302										
CDH4	1002	broad.mit.edu	37	chr20	59829994	59829994	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	aggggaaaagctacttcaagGtaaggcggggtgtggagggg	20	4	1	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr20:59829994G>T	ENST00000360469.5	+	2	257		c.e2+1			NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)						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)			CTACTTCAAGGTAAGGCGGGG	0.483																																						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.e2+1		cadherin 4, type 1, R-cadherin (retinal)							60	67	65					20																	59829994		2203	4300	6503	SO:0001630	splice_region_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:59829994G>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.169+1G>T	20.37:g.59829994G>T			Somatic						NM_001794.3	NP_001785.2	WXS	Illumina GAIIx	Phase_I	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		2	257	+								B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Splice_Site	SNP	ENST00000360469.5	37		CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804779	0.50315	.	.	ENSG00000179242	ENST00000360469	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2799	0.87125	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDH4	59263389	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	5.837000	0.69381	2.515000	0.84797	0.655000	0.94253	.		0.483	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	Intron	34	57	1	0	1.74807e-11	1	1.98644e-11	34	57					T	59829994	G	T	59829994	5	4	18	1	0	0	0	0	0	0	1	0	3114	1275	44	5	176	5	CDH4	20	59829994	Splice_Site	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08		59829994	3195526	72	1303										
APP	351	broad.mit.edu	37	chr21	27277388	27277388	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	gggcgggcatcaacaggctcAactgggcacaggaagcaagg	16	10	2	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr21:27277388A>T	ENST00000346798.3	-	15	1944	c.1911T>A	c.(1909-1911)gtT>gtA	p.V637V	APP_ENST00000354192.3_Splice_Site_p.V506V|APP_ENST00000357903.3_Splice_Site_p.V618V|APP_ENST00000448388.2_Splice_Site_p.V527V|APP_ENST00000358918.3_Intron|APP_ENST00000440126.3_Splice_Site_p.V613V|APP_ENST00000359726.3_Splice_Site_p.V581V|APP_ENST00000348990.5_Splice_Site_p.V562V|APP_ENST00000439274.2_Splice_Site_p.V581V	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	637					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CAACAGGCTCAACTGGGCACA	0.537																																						ENST00000357903.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.e14-1		amyloid beta (A4) precursor protein							133	130	131					21																	27277388		2203	4300	6503	SO:0001630	splice_region_variant	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27277388A>T	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1910-1T>A	21.37:g.27277388A>T			Somatic				APP_ENST00000354192.3_Splice_Site_p.V506_splice|APP_ENST00000439274.2_Splice_Site_p.V581_splice|APP_ENST00000348990.5_Splice_Site_p.V562_splice|APP_ENST00000448388.2_Splice_Site_p.V527_splice|APP_ENST00000346798.3_Splice_Site_p.V637_splice|APP_ENST00000440126.3_Splice_Site_p.V613_splice|APP_ENST00000359726.3_Splice_Site_p.V581_splice|APP_ENST00000358918.3_Intron	p.V618_splice	NM_201413.2	NP_958816.1	WXS	Illumina GAIIx	Phase_I	P05067	A4_HUMAN			14	2020	-		Breast(209;0.00295)	637					B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Splice_Site	SNP	ENST00000346798.3	37	c.1852_splice	CCDS13576.1																																																																																				0.537	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484	Silent	10	13	0	0	0	1	0	10	13					T	27277388	A	T	27277388	5	4	18	1	0	0	0	0	0	0	1	0	815	144	5	4	417	4	APP	21	27277388	Splice_Site	SNP	A	TCGA-N6-A4VE-01A-11D-A28R-08		27277388	20852507	73	1304										
ZC3H7B	23264	broad.mit.edu	37	chr22	41739574	41739574	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	tcgtgggctcctactacctgTgcaaaggtgggtgggctgca	15	10	0	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr22:41739574T>A	ENST00000352645.4	+	13	1710	c.1453T>A	c.(1453-1455)Tgc>Agc	p.C485S	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.C485S	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	501					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						CTACTACCTGTGCAAAGGTGG	0.677																																						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.(1453-1455)Tgc>Agc		zinc finger CCCH-type containing 7B							14	16	15					22																	41739574		2202	4296	6498	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41739574T>A		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.1453T>A	22.37:g.41739574T>A	ENSP00000345793:p.Cys485Ser		Somatic				ZC3H7B_ENST00000351589.4_Missense_Mutation_p.C485S	p.C485S	NM_017590.4	NP_060060.3	WXS	Illumina GAIIx	Phase_I	Q9UGR2	Z3H7B_HUMAN			13	1710	+			501					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.1453T>A	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	T	32	5.150152	0.94645	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.20332	2.08;2.08	5.58	5.58	0.84498	.	0.043031	0.85682	D	0.000000	T	0.43897	0.1268	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.36601	-0.9741	10	0.87932	D	0	-27.9018	15.745	0.77932	0.0:0.0:0.0:1.0	.	485	Q9UGR2-2	.	S	485	ENSP00000345793:C485S;ENSP00000263243:C485S	ENSP00000263243:C485S	C	+	1	0	ZC3H7B	40069520	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.978000	0.88095	2.132000	0.65825	0.402000	0.26972	TGC		0.677	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		11	12	0	0	0	1	0	11	12					A	41739574	T	A	41739574	3	1	18	1	0	0	0	0	1	0	0	0	17588	1696	59	4	1499	4	ZC3H7B	22	41739574	Missense_Mutation	SNP	T	TCGA-N6-A4VE-01A-11D-A28R-08		41739574	9564992	74	1305										
FBLN1	2192	broad.mit.edu	37	chr22	45914649	45914649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	ctgctcgctgccatatgctaCggaatccaaagaatgcaggt	10	11	0	1			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr22:45914649C>T	ENST00000327858.6	+	2	262	c.167C>T	c.(166-168)aCg>aTg	p.T56M	FBLN1_ENST00000348697.2_Missense_Mutation_p.T56M|FBLN1_ENST00000340923.5_Missense_Mutation_p.T56M|FBLN1_ENST00000442170.2_Missense_Mutation_p.T56M|FBLN1_ENST00000262722.7_Missense_Mutation_p.T56M|FBLN1_ENST00000402984.3_Missense_Mutation_p.T56M	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	56	Anaphylatoxin-like 1. {ECO:0000255|PROSITE-ProRule:PRU00022}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCATATGCTACGGAATCCAAA	0.562																																						ENST00000348697.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(166-168)aCg>aTg		fibulin 1							80	64	70					22																	45914649		2202	4300	6502	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45914649C>T		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"Fibulins"	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.167C>T	22.37:g.45914649C>T	ENSP00000331544:p.Thr56Met		Somatic				FBLN1_ENST00000402984.3_Missense_Mutation_p.T56M|FBLN1_ENST00000340923.5_Missense_Mutation_p.T56M|FBLN1_ENST00000327858.6_Missense_Mutation_p.T56M|FBLN1_ENST00000262722.7_Missense_Mutation_p.T56M|FBLN1_ENST00000442170.2_Missense_Mutation_p.T56M	p.T56M			WXS	Illumina GAIIx	Phase_I	P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	2	314	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	56			Anaphylatoxin-like 1.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.167C>T	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119517	0.56505	.	.	ENSG00000077942	ENST00000411478;ENST00000445110;ENST00000455233;ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923;ENST00000439835;ENST00000450975;ENST00000454279	T;T;T;D;T;T;T;T;T	0.86297	1.84;1.84;1.84;-2.1;1.84;1.84;1.84;1.84;0.93	4.64	4.64	0.57946	Anaphylatoxin/fibulin (4);	0.305300	0.31010	N	0.008434	D	0.83524	0.5273	N	0.08118	0	0.09310	N	1	D;D;D;D	0.69078	0.997;0.993;0.995;0.993	P;P;P;P	0.57283	0.65;0.817;0.759;0.795	T	0.78097	-0.2337	10	0.59425	D	0.04	.	14.529	0.67912	0.0:1.0:0.0:0.0	.	56;56;56;56	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	M	64;14;56;56;56;56;56;56;56;14;65;14	ENSP00000415289:T64M;ENSP00000402963:T56M;ENSP00000262723:T56M;ENSP00000385521:T56M;ENSP00000262722:T56M;ENSP00000331544:T56M;ENSP00000393812:T56M;ENSP00000342212:T56M;ENSP00000414584:T14M	ENSP00000262722:T56M	T	+	2	0	FBLN1	44293313	0.207000	0.23482	0.011000	0.14972	0.742000	0.42306	3.455000	0.52993	2.414000	0.81942	0.655000	0.94253	ACG		0.562	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		18	0	0	0	0	1	0	18	0					T	45914649	C	T	45914649	3	4	18	1	0	0	0	0	1	0	0	0	5706	536	19	1	173	1	FBLN1	22	45914649	Missense_Mutation	SNP	C	TCGA-N6-A4VE-01A-11D-A28R-08	4175075	45914649	5389917	75	1306										
CDKL5	6792	broad.mit.edu	37	chrX	18622158	18622158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	gcttcctaaatggaaaccttGctggagctagtcttagtcca	9	10	1	0			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrX:18622158G>A	ENST00000379989.3	+	13	1399	c.1114G>A	c.(1114-1116)Gct>Act	p.A372T	CDKL5_ENST00000379996.3_Missense_Mutation_p.A372T|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	372					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGGAAACCTTGCTGGAGCTAG	0.522																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(1114-1116)Gct>Act		cyclin-dependent kinase-like 5							158	153	154					X																	18622158		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18622158G>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1114G>A	X.37:g.18622158G>A	ENSP00000369325:p.Ala372Thr		Somatic				CDKL5_ENST00000379996.3_Missense_Mutation_p.A372T|CDKL5_ENST00000463994.1_3'UTR	p.A372T	NM_001037343.1	NP_001032420.1	WXS	Illumina GAIIx	Phase_I	O76039	CDKL5_HUMAN			13	1399	+	Hepatocellular(33;0.183)		372					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.1114G>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435492	0.25813	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.69806	-0.43;-0.43	6.06	4.17	0.49024	.	0.246034	0.49305	D	0.000157	T	0.38214	0.1032	N	0.03608	-0.345	0.26873	N	0.967705	B	0.22346	0.068	B	0.13407	0.009	T	0.15009	-1.0452	10	0.33940	T	0.23	-18.6651	7.7587	0.28940	0.0:0.4007:0.356:0.2432	.	372	O76039	CDKL5_HUMAN	T	372	ENSP00000369332:A372T;ENSP00000369325:A372T	ENSP00000369325:A372T	A	+	1	0	CDKL5	18532079	0.793000	0.28825	1.000000	0.80357	0.922000	0.55478	0.797000	0.26999	2.560000	0.86352	0.600000	0.82982	GCT		0.522	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		44	168	0	0	0	1	0	44	168					A	18622158	G	A	18622158	3	1	18	1	0	0	0	0	1	0	0	0	3159	1319	46	3	1156	3	CDKL5	23	18622158	Missense_Mutation	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08		18622158	136648402	76	1307										
HUWE1	10075	broad.mit.edu	37	chrX	53611281	53611281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	gagagtcagcatcacagggcGtcggttccctgtttcctcat	11	12	3	1			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrX:53611281G>A	ENST00000342160.3	-	40	5483	c.5026C>T	c.(5026-5028)Cgc>Tgc	p.R1676C	HUWE1_ENST00000262854.6_Missense_Mutation_p.R1676C|HUWE1_ENST00000218328.8_Intron			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1676	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				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						ATCACAGGGCGTCGGTTCCCT	0.438																																						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.(5026-5028)Cgc>Tgc		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							103	86	91					X																	53611281		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:53611281G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.5026C>T	X.37:g.53611281G>A	ENSP00000340648:p.Arg1676Cys		Somatic				HUWE1_ENST00000218328.8_Intron|HUWE1_ENST00000262854.6_Missense_Mutation_p.R1676C	p.R1676C			WXS	Illumina GAIIx	Phase_I	Q7Z6Z7	HUWE1_HUMAN			40	5483	-			1676			WWE.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.5026C>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.06|17.06	3.291299|3.291299	0.59976|0.59976	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.60040|.	0.22;0.22|.	5.47|5.47	5.47|5.47	0.80525|0.80525	WWE domain (2);|.	0.151845|.	0.42548|.	D|.	0.000684|.	T|T	0.78704|0.78704	0.4325|0.4325	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.994|.	T|T	0.80437|0.80437	-0.1383|-0.1383	10|5	0.87932|.	D|.	0|.	.|.	17.0022|17.0022	0.86384|0.86384	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1676;1676|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	C|M	1676|709	ENSP00000340648:R1676C;ENSP00000262854:R1676C|.	ENSP00000262854:R1676C|.	R|T	-|-	1|2	0|0	HUWE1|HUWE1	53628006|53628006	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.950000|0.950000	0.60333|0.60333	5.155000|5.155000	0.64900|0.64900	2.277000|2.277000	0.76020|0.76020	0.513000|0.513000	0.50165|0.50165	CGC|ACG		0.438	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		5	52	0	0	0	1	0	5	52					A	53611281	G	A	53611281	3	1	18	1	0	0	0	0	1	0	0	0	7470	1145	40	1	8274	1	HUWE1	23	53611281	Missense_Mutation	SNP	G	TCGA-N6-A4VE-01A-11D-A28R-08	34989123	53611281	101659279	77	1308										
GPRASP1	9737	broad.mit.edu	37	chrX	101912011	101912011	+	Frame_Shift_Del	DEL	G	G	-													0.0384615384615385	3	1	0.765702891326022	0.72316384180791	0.788906009244992	1	1	0	tcagttcaagcctggtccatGgggtagggtcggcttcccat							TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrX:101912011delG	ENST00000361600.5	+	5	3971	c.3170delG	c.(3169-3171)tggfs	p.W1057fs	GPRASP1_ENST00000444152.1_Frame_Shift_Del_p.W1057fs|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Frame_Shift_Del_p.W1057fs|GPRASP1_ENST00000415986.1_Frame_Shift_Del_p.W1057fs	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1057	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTGGTCCATGGGGTAGGGTC	0.517																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3169-3171)tgfs		G protein-coupled receptor associated sorting protein 1							127	124	125					X																	101912011		2203	4300	6503	SO:0001589	frameshift_variant	9737					cytoplasm	protein binding	g.chrX:101912011delG	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3170delG	X.37:g.101912011delG	ENSP00000355146:p.Trp1057fs		Somatic				GPRASP1_ENST00000415986.1_Frame_Shift_Del_p.W1057fs|GPRASP1_ENST00000444152.1_Frame_Shift_Del_p.W1057fs|GPRASP1_ENST00000361600.5_Frame_Shift_Del_p.W1057fs|RP4-769N13.7_ENST00000602441.1_RNA	p.W1057fs	NM_001184727.1	NP_001171656.1	WXS	Illumina GAIIx	Phase_I	Q5JY77	GASP1_HUMAN			6	3983	+			1057			OPRD1-binding.		O43168|Q96LA1	Frame_Shift_Del	DEL	ENST00000361600.5	37	c.3170delG	CCDS35352.1																																																																																				0.517	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		104	135						104	135	---	---	---	---	-	101912011	G	-	101912011	7	5	18	1	0	1	0	1	0	0	0	0	6731	1357	47	0	3172	0	GPRASP1	23	101912011	Frame_Shift_Del	DEL	G	TCGA-N6-A4VE-01A-11D-A28R-08	48300730	101912011	53358549	78	1309										
AGRN	375790	broad.mit.edu	37	chr1	985167	985168	+	Frame_Shift_Ins	INS	-	-	C													0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	cattgccagtgcccgcccggINSccgcgtcggtgagggtgggg							TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:985167_985168insC	ENST00000379370.2	+	26	4786_4787	c.4736_4737insC	c.(4735-4740)ggccgcfs	p.R1580fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1580	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGCCCGCCCGGCCGCGTCGGTG	0.752																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(4735-4737)gcgfs		agrin																																				SO:0001589	frameshift_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.chr1:985167_985168insC	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.4738dupC	1.37:g.985169_985169dupC	ENSP00000368678:p.Arg1580fs		Somatic					p.A1579fs	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)	26	4786_4787	+	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)	1579			EGF-like 2.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Frame_Shift_Ins	INS	ENST00000379370.2	37	c.4736_4737insC	CCDS30551.1																																																																																				0.752	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		9	21						9	21	---	---	---	---	C	985168	-	C	985167	7	5	19	1	0	1	1	0	0	0	0	0	397	1203	42	0	4838	0	AGRN	1	985167	Frame_Shift_Ins	INS	-	TCGA-N6-A4VF-01A-31D-A28R-08		985167	248265454	1	1310										
CASZ1	54897	broad.mit.edu	37	chr1	10715751	10715751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	ttcccattgaggtggcagccGtggtagtagacgctgcagtc	14	10	0	2	rs575650869		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:10715751G>A	ENST00000377022.3	-	9	1937	c.1620C>T	c.(1618-1620)caC>caT	p.H540H	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.H540H	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	540					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)		GGTGGCAGCCGTGGTAGTAGA	0.637													G|||	1	0.000199681	0	0	5008	,	,		19641	0		0	False		,,,				2504	0.001					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.(1618-1620)caC>caT		castor zinc finger 1							144	104	117					1																	10715751		2203	4300	6503	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10715751G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1620C>T	1.37:g.10715751G>A			Somatic				CASZ1_ENST00000344008.5_Silent_p.H540H	p.H540H	NM_001079843.1	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)	9	1937	-	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)	540					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.1620C>T	CCDS41246.1																																																																																				0.637	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		14	22	0	0	0	1	0	14	22					A	10715751	G	A	10715751	2	1	19	1	0	0	0	0	0	0	0	1	2687	1136	40	1		1	CASZ1	1	10715751	Silent	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08	9730584	10715751	238534870	2	1311										
HSPG2	3339	broad.mit.edu	37	chr1	22161368	22161368	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	tcacccagtgccaggcattcGaactccacggcgtggccaac	10	16	1	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:22161368G>A	ENST00000374695.3	-	77	10603	c.10524C>T	c.(10522-10524)ttC>ttT	p.F3508F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3508	Ig-like C2-type 21.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCAGGCATTCGAACTCCACGG	0.637																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(10522-10524)ttC>ttT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						75	63	67					1																	22161368		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22161368G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10524C>T	1.37:g.22161368G>A			Somatic					p.F3508F	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)	77	10603	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3508			Ig-like C2-type 21.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.10524C>T	CCDS30625.1																																																																																				0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		25	49	0	0	0	1	0	25	49					A	22161368	G	A	22161368	2	1	19	1	0	0	0	0	0	0	0	1	7439	1049	37	1		1	HSPG2	1	22161368	Silent	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08	11445617	22161368	227089253	3	1312										
LEPR	3953	broad.mit.edu	37	chr1	66081728	66081728	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	ctcattgtgcagtgttcagaGatatgtgataaaccatcata	8	7	3	2			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:66081728G>A	ENST00000349533.6	+	15	2218	c.2033G>A	c.(2032-2034)aGa>aAa	p.R678K	LEPR_ENST00000371059.3_Missense_Mutation_p.R678K|LEPR_ENST00000371060.3_Missense_Mutation_p.R678K|LEPR_ENST00000344610.8_Missense_Mutation_p.R678K|LEPR_ENST00000371058.1_Missense_Mutation_p.R678K|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGTGTTCAGAGATATGTGATA	0.393																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(2032-2034)aGa>aAa		leptin receptor							117	107	111					1																	66081728		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.chr1:66081728G>A	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.2033G>A	1.37:g.66081728G>A	ENSP00000330393:p.Arg678Lys		Somatic				LEPR_ENST00000371060.3_Missense_Mutation_p.R678K|LEPR_ENST00000344610.8_Missense_Mutation_p.R678K|LEPR_ENST00000371059.3_Missense_Mutation_p.R678K|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.R678K	p.R678K	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	2218	+			678			Fibronectin type-III 3.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.2033G>A	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	5.349	0.249602	0.10130	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.37	3.44	0.39384	Fibronectin, type III (2);	0.287022	0.40302	N	0.001137	T	0.12475	0.0303	L	0.40543	1.245	0.53688	D	0.99997	B;B;B	0.13594	0.006;0.005;0.008	B;B;B	0.15870	0.014;0.014;0.009	T	0.15292	-1.0442	10	0.06236	T	0.91	-3.89	11.0049	0.47629	0.1564:0.0:0.8436:0.0	.	678;678;678	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	K	678	ENSP00000340884:R678K;ENSP00000330393:R678K;ENSP00000360099:R678K;ENSP00000360098:R678K;ENSP00000360097:R678K	ENSP00000340884:R678K	R	+	2	0	LEPR	65854316	0.997000	0.39634	0.456000	0.27044	0.262000	0.26303	3.170000	0.50816	0.595000	0.29777	0.655000	0.94253	AGA		0.393	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		23	44	0	0	0	1	0	23	44					A	66081728	G	A	66081728	3	1	19	1	0	0	0	0	1	0	0	0	8737	942	33	3	2083	3	LEPR	1	66081728	Missense_Mutation	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08	43920360	66081728	183168893	4	1313										
KCNJ9	3765	broad.mit.edu	37	chr1	160054319	160054319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	agatctcgcagcccaacaagCgcgcagccacgctcgtcttc	9	17	2	1			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:160054319C>T	ENST00000368088.3	+	2	741	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	167					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCCAACAAGCGCGCAGCCAC	0.652																																						ENST00000368088.3																			0				biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16						c.(499-501)Cgc>Tgc		potassium inwardly-rectifying channel, subfamily J, member 9							32	31	31					1																	160054319		2203	4300	6503	SO:0001583	missense	3765				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr1:160054319C>T	U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.499C>T	1.37:g.160054319C>T	ENSP00000357067:p.Arg167Cys		Somatic					p.R167C	NM_004983.2	NP_004974.2	WXS	Illumina GAIIx	Phase_I	Q92806	IRK9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	741	+	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		167					Q5JW75	Missense_Mutation	SNP	ENST00000368088.3	37	c.499C>T	CCDS1194.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215252	0.79352	.	.	ENSG00000162728	ENST00000368088	D	0.97041	-4.22	4.3	4.3	0.51218	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	0.98792	0.9593	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99285	1.0897	10	0.87932	D	0	.	11.2158	0.48825	0.1838:0.8162:0.0:0.0	.	167	Q92806	IRK9_HUMAN	C	167	ENSP00000357067:R167C	ENSP00000357067:R167C	R	+	1	0	KCNJ9	158320943	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.093000	0.50217	2.103000	0.63969	0.555000	0.69702	CGC		0.652	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983		20	20	0	0	0	1	0	20	20					T	160054319	C	T	160054319	3	4	19	1	0	0	0	0	1	0	0	0	8066	768	27	1	501	1	KCNJ9	1	160054319	Missense_Mutation	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08	93972591	160054319	89196302	5	1314										
UGT1A6	54578	broad.mit.edu	37	chr2	234601884	234601884	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	tactacacaagaaaaatctaTccagtgccgtatgaccaaga	6	10	1	3			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr2:234601884T>G	ENST00000305139.6	+	1	373	c.234T>G	c.(232-234)taT>taG	p.Y78*	UGT1A6_ENST00000373424.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_5'Flank|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000373450.4_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	78					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		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;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GAAAAATCTATCCAGTGCCGT	0.423																																						ENST00000305139.6																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22						c.(232-234)taT>taG									103	101	102					2																	234601884		2203	4300	6503	SO:0001587	stop_gained	0							g.chr2:234601884T>G	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.234T>G	2.37:g.234601884T>G	ENSP00000303174:p.Tyr78*		Somatic				UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron	p.Y78*	NM_001072.3	NP_001063.2	WXS	Illumina GAIIx	Phase_I				Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	1	373	+		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)						A6NKK6|B8K289|Q96TE7	Nonsense_Mutation	SNP	ENST00000305139.6	37	c.234T>G	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.806417	0.31961	.	.	ENSG00000167165	ENST00000441351;ENST00000305139	.	.	.	5.17	-9.0	0.00747	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6644	0.51366	0.0:0.2462:0.09:0.6638	.	.	.	.	X	78	.	ENSP00000303174:Y78X	Y	+	3	2	UGT1A6	234266623	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.571000	0.02138	-2.279000	0.00676	-0.256000	0.11100	TAT		0.423	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		29	49	0	0	0	1	0	29	49					G	234601884	T	G	234601884	4	3	19	1	0	0	0	0	0	1	0	0	16964	1442	50	4	236	4	UGT1A6	2	234601884	Nonsense_Mutation	SNP	T	TCGA-N6-A4VF-01A-31D-A28R-08		234601884	8597489	6	1315										
ITIH4	3700	broad.mit.edu	37	chr3	52858518	52858518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	agttgcttctgtactgaagaCgatgaggttgaactggtctc	12	7	2	4			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr3:52858518C>T	ENST00000266041.4	-	8	1036	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	ITIH4_ENST00000485816.1_Missense_Mutation_p.V314I|ITIH4_ENST00000434759.3_Missense_Mutation_p.V226I|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000406595.1_Missense_Mutation_p.V314I|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000346281.5_Missense_Mutation_p.V314I	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	314	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)		GTACTGAAGACGATGAGGTTG	0.572																																						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.(940-942)Gtc>Atc		inter-alpha-trypsin inhibitor heavy chain family, member 4							109	105	107					3																	52858518		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52858518C>T	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"plasma Kallikrein-sensitive glycoprotein"	600564	"inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.940G>A	3.37:g.52858518C>T	ENSP00000266041:p.Val314Ile		Somatic				ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000406595.1_Missense_Mutation_p.V314I|ITIH4_ENST00000485816.1_Missense_Mutation_p.V314I|ITIH4_ENST00000434759.3_Missense_Mutation_p.V226I|ITIH4_ENST00000346281.5_Missense_Mutation_p.V314I	p.V314I	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	1036	-			314			VWFA.		B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.940G>A	CCDS2865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.34|12.34	1.908808|1.908808	0.33721|0.33721	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000441637|ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759	.|D;D;D;D;D	.|0.83335	.|-1.71;-1.71;-1.71;-1.71;-1.71	5.18|5.18	-10.4|-10.4	0.00318|0.00318	.|von Willebrand factor, type A (3);	.|2.486670	.|0.01767	.|N	.|0.030958	T|T	0.60805|0.60805	0.2297|0.2297	N|N	0.16098|0.16098	0.37|0.37	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.22909	.|0.06;0.06;0.034;0.077	.|B;B;B;B	.|0.17722	.|0.011;0.019;0.019;0.018	T|T	0.53301|0.53301	-0.8458|-0.8458	5|10	.|0.18710	.|T	.|0.47	0.5434|0.5434	3.5354|3.5354	0.07792|0.07792	0.0799:0.2726:0.2396:0.4079|0.0799:0.2726:0.2396:0.4079	.|.	.|314;314;314;314	.|E9PGN5;B7ZKJ8;Q14624;Q14624-2	.|.;.;ITIH4_HUMAN;.	H|I	171|314;314;314;314;302;226	.|ENSP00000266041:V314I;ENSP00000340520:V314I;ENSP00000417824:V314I;ENSP00000384425:V314I;ENSP00000440036:V226I	.|ENSP00000266041:V314I	R|V	-|-	2|1	0|0	ITIH4|ITIH4	52833558|52833558	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-1.331000|-1.331000	0.02672|0.02672	-2.221000|-2.221000	0.00728|0.00728	-0.254000|-0.254000	0.11334|0.11334	CGT|GTC		0.572	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		14	71	0	0	0	1	0	14	71					T	52858518	C	T	52858518	3	4	19	1	0	0	0	0	1	0	0	0	7915	536	19	1	1920	1	ITIH4	3	52858518	Missense_Mutation	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08		52858518	145163912	7	1316										
TMF1	7110	broad.mit.edu	37	chr3	69084233	69084237	+	Frame_Shift_Del	DEL	CTGTA	CTGTA	-													0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	ctttctggcagccgcttgttCtgtacgctgcaatgcaagcc							TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr3:69084233_69084237delCTGTA	ENST00000398559.2	-	9	2397_2401	c.2181_2185delTACAG	c.(2179-2187)cgtacagaafs	p.TE728fs	TMF1_ENST00000543976.1_Frame_Shift_Del_p.TE731fs|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	728					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)		GCCGCTTGTTCTGTACGCTGCAATG	0.434																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(2188-2196)cgaafs		TATA element modulatory factor 1																																				SO:0001589	frameshift_variant	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69084233_69084237delCTGTA		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.2181_2185delTACAG	3.37:g.69084233_69084237delCTGTA	ENSP00000381567:p.Thr728fs		Somatic				CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000398559.2_Frame_Shift_Del_p.RTE727fs|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA	p.RTE730fs	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)	9	2436_2440	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	727					B7ZLJ2|Q17R87|Q59GK0	Frame_Shift_Del	DEL	ENST00000398559.2	37	c.2190_2194delTACAG	CCDS43105.1																																																																																				0.434	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		8	132						8	132	---	---	---	---	-	69084237	CTGTA	-	69084233	7	5	19	1	0	1	0	1	0	0	0	0	16243	922	32	0	1132	0	TMF1	3	69084233	Frame_Shift_Del	DEL	CTGTA	TCGA-N6-A4VF-01A-31D-A28R-08	16225715	69084233	128938197	8	1317										
EPHB1	2047	broad.mit.edu	37	chr3	134670597	134670597	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	ggagctttgggcctcttactCggaatggtttttacctcgct	11	10	1	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr3:134670597C>T	ENST00000398015.3	+	3	878	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	170	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCCTCTTACTCGGAATGGTTT	0.463																																						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.(508-510)Cgg>Tgg		EPH receptor B1							240	233	235					3																	134670597		1936	4152	6088	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670597C>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.508C>T	3.37:g.134670597C>T	ENSP00000381097:p.Arg170Trp		Somatic				EPHB1_ENST00000488154.1_Intron	p.R170W	NM_004441.4	NP_004432.1	WXS	Illumina GAIIx	Phase_I	P54762	EPHB1_HUMAN			3	878	+			170					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.508C>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574836	0.65878	.	.	ENSG00000154928	ENST00000398015;ENST00000474732	T;T	0.03951	3.75;3.75	5.49	4.59	0.56863	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.061384	0.64402	D	0.000005	T	0.20373	0.0490	M	0.80183	2.485	0.80722	D	1	D	0.71674	0.998	D	0.63381	0.914	T	0.01228	-1.1412	9	.	.	.	.	15.1725	0.72884	0.1464:0.8536:0.0:0.0	.	170	P54762	EPHB1_HUMAN	W	170;148	ENSP00000381097:R170W;ENSP00000418352:R148W	.	R	+	1	2	EPHB1	136153287	0.997000	0.39634	0.980000	0.43619	0.994000	0.84299	2.507000	0.45442	1.251000	0.43983	0.655000	0.94253	CGG		0.463	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		94	117	0	0	0	1	0	94	117					T	134670597	C	T	134670597	3	4	19	1	0	0	0	0	1	0	0	0	5176	875	31	1	518	1	EPHB1	3	134670597	Missense_Mutation	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08	65586364	134670597	63351833	9	1318										
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	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	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			10	18	0	0	0	1	0	10	18					A	178936091	G	A	178936091	3	1	19	1	0	0	0	0	1	0	0	0	11922	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08	44265494	178936091	19086339	10	1319										
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	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	cccacgctggtgtgctccagCgcggtggggagctggtcata	16	12	1	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr5:140183011C>T	ENST00000522353.2	+	1	2229	c.2229C>T	c.(2227-2229)agC>agT	p.S743S	PCDHA3_ENST00000532566.2_Silent_p.S743S|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	743	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S743S(4)|p.S743R(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTCCAGCGCGGTGGGGA	0.637																																						ENST00000522353.2																			6	Substitution - coding silent(4)|Substitution - Missense(2)	p.S743S(4)|p.S743R(2)	prostate(2)|lung(2)|endometrium(2)	NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(2227-2229)agC>agT									78	85	83					5																	140183011		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140183011C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2229C>T	5.37:g.140183011C>T			Somatic				PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.S743S|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_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		52	106	0	0	0	1	0	52	106					T	140183011	C	T	140183011	2	4	19	1	0	0	0	0	0	0	0	1	11534	767	27	1		1	PCDHA3	5	140183011	Silent	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08		140183011	40732249	11	1320										
PCDHGB3	56102	broad.mit.edu	37	chr5	140751623	140751623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	ctgcgcgtgttggtggacgaCcgcaacgacaatgcaccgct	13	13	0	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr5:140751623C>T	ENST00000576222.1	+	1	1793	c.1662C>T	c.(1660-1662)gaC>gaT	p.D554D	PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	554	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGACGACCGCAACGACA	0.667																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1660-1662)gaC>gaT									36	46	43					5																	140751623		2192	4292	6484	SO:0001819	synonymous_variant	0							g.chr5:140751623C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1662C>T	5.37:g.140751623C>T			Somatic				PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.D554D	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	1793	+								A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1662C>T	CCDS58980.1																																																																																				0.667	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		21	55	0	0	0	1	0	21	55					T	140751623	C	T	140751623	2	4	19	1	0	0	0	0	0	0	0	1	11573	506	18	3		3	PCDHGB3	5	140751623	Silent	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08	568612	140751623	40163637	12	1321										
BMP6	654	broad.mit.edu	37	chr6	7845380	7845380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	tttaatcttatagtggagtaCgacaaggagttctcccctcg	9	9	2	0	rs375867934		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:7845380C>T	ENST00000283147.6	+	2	831	c.672C>T	c.(670-672)taC>taT	p.Y224Y		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	224					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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TAGTGGAGTACGACAAGGAGT	0.478																																						ENST00000283147.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(670-672)taC>taT		bone morphogenetic protein 6		C		0,4406		0,0,2203	117	114	115		672	4.3	1	6		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BMP6	NM_001718.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		224/514	7845380	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:7845380C>T	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.672C>T	6.37:g.7845380C>T			Somatic					p.Y224Y	NM_001718.4	NP_001709.1	WXS	Illumina GAIIx	Phase_I	P22004	BMP6_HUMAN			2	831	+	Ovarian(93;0.0721)		224					Q5TCP3	Silent	SNP	ENST00000283147.6	37	c.672C>T	CCDS4503.1																																																																																				0.478	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		37	52	0	0	0	1	0	37	52					T	7845380	C	T	7845380	2	4	19	1	0	0	0	0	0	0	0	1	1464	547	19	1		1	BMP6	6	7845380	Silent	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08		7845380	163269687	13	1322										
SOX4	6659	broad.mit.edu	37	chr6	21596141	21596141	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	cgaggtgagcgagatgatctCgggagactggctcgagtcca	16	9	1	4			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:21596141C>G	ENST00000244745.1	+	1	2170	c.1376C>G	c.(1375-1377)tCg>tGg	p.S459W	SOX4_ENST00000543472.1_Missense_Mutation_p.S459W	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	459					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GAGATGATCTCGGGAGACTGG	0.622																																						ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(1375-1377)tCg>tGg		SRY (sex determining region Y)-box 4							10	12	11					6																	21596141		2197	4297	6494	SO:0001583	missense	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein 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	g.chr6:21596141C>G	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"SRY (sex determining region Y)-boxes"	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.1376C>G	6.37:g.21596141C>G	ENSP00000244745:p.Ser459Trp		Somatic				SOX4_ENST00000543472.1_Missense_Mutation_p.S459W	p.S459W	NM_003107.2	NP_003098.1	WXS	Illumina GAIIx	Phase_I	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	2170	+	Ovarian(93;0.163)		459						Missense_Mutation	SNP	ENST00000244745.1	37	c.1376C>G	CCDS4547.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659758	0.67586	.	.	ENSG00000124766	ENST00000244745;ENST00000543472	D;D	0.98280	-4.84;-4.84	4.19	3.32	0.38043	.	0.000000	0.64402	U	0.000007	D	0.97848	0.9293	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.98102	1.0415	10	0.87932	D	0	.	11.7965	0.52102	0.0:0.911:0.0:0.089	.	459	Q06945	SOX4_HUMAN	W	459	ENSP00000244745:S459W;ENSP00000438412:S459W	ENSP00000244745:S459W	S	+	2	0	SOX4	21704120	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.570000	0.82390	0.874000	0.35823	0.585000	0.79938	TCG		0.622	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		4	16	0	0	0	1	0	4	16					G	21596141	C	G	21596141	3	3	19	1	0	0	0	0	1	0	0	0	14968	893	31	2	1378	2	SOX4	6	21596141	Missense_Mutation	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08	13750761	21596141	149518926	14	1323										
REV3L	5980	broad.mit.edu	37	chr6	111631214	111631214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	gcgccttacaagctggataaGtggtactccgggggtcccat	13	11	0	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:111631214G>A	ENST00000358835.3	-	31	9338	c.8884C>T	c.(8884-8886)Ctt>Ttt	p.L2962F	REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000368802.3_Missense_Mutation_p.L2962F|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000435970.1_Missense_Mutation_p.L2884F|REV3L_ENST00000368805.1_Missense_Mutation_p.L2962F			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2962					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGCTGGATAAGTGGTACTCCG	0.512								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(8650-8652)Ctt>Ttt	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							88	89	89					6																	111631214		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111631214G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.8884C>T	6.37:g.111631214G>A	ENSP00000351697:p.Leu2962Phe		Somatic				REV3L_ENST00000462119.1_5'UTR|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000358835.3_Missense_Mutation_p.L2962F|REV3L_ENST00000368805.1_Missense_Mutation_p.L2962F|REV3L_ENST00000368802.3_Missense_Mutation_p.L2962F	p.L2884F			WXS	Illumina GAIIx	Phase_I	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	32	9466	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2962					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.8650C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798792	0.70567	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.46	5.46	0.80206	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.431455	0.24518	N	0.037834	T	0.41811	0.1175	M	0.82517	2.595	0.52099	D	0.999947	D	0.89917	1.0	D	0.97110	1.0	T	0.37596	-0.9699	10	0.62326	D	0.03	-6.8923	19.73	0.96179	0.0:0.0:1.0:0.0	.	2962	O60673	DPOLZ_HUMAN	F	2962;2962;2962;2884	ENSP00000357792:L2962F;ENSP00000357795:L2962F;ENSP00000351697:L2962F;ENSP00000402003:L2884F	ENSP00000351697:L2962F	L	-	1	0	REV3L	111737907	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	9.660000	0.98599	2.725000	0.93324	0.555000	0.69702	CTT		0.512	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		27	66	0	0	0	1	0	27	66					A	111631214	G	A	111631214	3	1	19	1	0	0	0	0	1	0	0	0	13255	1029	36	3	520	3	REV3L	6	111631214	Missense_Mutation	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08	90035073	111631214	59483853	15	1324										
SGK1	6446	broad.mit.edu	37	chr6	134491532	134491532	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	gagttggggacaggctcttcGgtaaactcggggtcaaagtg	16	7	2	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:134491532G>C	ENST00000237305.7	-	12	1258	c.1170C>G	c.(1168-1170)acC>acG	p.T390T	SGK1_ENST00000528577.1_Silent_p.T418T|SGK1_ENST00000367857.5_Silent_p.T380T|SGK1_ENST00000475719.2_Silent_p.T346T|SGK1_ENST00000413996.3_Silent_p.T404T|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000367858.5_Silent_p.T485T	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	390	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CAGGCTCTTCGGTAAACTCGG	0.557																																						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.(1453-1455)acC>acG		serum/glucocorticoid regulated kinase 1							89	79	82					6																	134491532		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.chr6:134491532G>C	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.1170C>G	6.37:g.134491532G>C			Somatic				SGK1_ENST00000413996.3_Silent_p.T404T|SGK1_ENST00000367857.5_Silent_p.T380T|SGK1_ENST00000528577.1_Silent_p.T418T|SGK1_ENST00000237305.7_Silent_p.T390T|SGK1_ENST00000475719.2_Silent_p.T346T	p.T485T	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)	14	2052	-	Colorectal(23;0.221)		390					B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	c.1455C>G	CCDS5170.1																																																																																				0.557	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			36	55	0	0	0	1	0	36	55					C	134491532	G	C	134491532	2	2	19	1	0	0	0	0	0	0	0	1	14222	1103	39	5		5	SGK1	6	134491532	Silent	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08	22860318	134491532	36623535	16	1325										
MAP7	9053	broad.mit.edu	37	chr6	136710584	136710584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	ctcctccaacctcttcttccGctcttccaggtgcttctcgt	5	18	4	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:136710584G>A	ENST00000354570.3	-	4	726	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	MAP7_ENST00000454590.1_Missense_Mutation_p.R128W|MAP7_ENST00000438100.2_Missense_Mutation_p.R128W|MAP7_ENST00000544465.1_Missense_Mutation_p.R91W|MAP7_ENST00000432797.2_5'UTR	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	106					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTCTTCTTCCGCTCTTCCAGG	0.527																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(316-318)Cgg>Tgg		microtubule-associated protein 7							119	115	116					6																	136710584		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136710584G>A	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.316C>T	6.37:g.136710584G>A	ENSP00000346581:p.Arg106Trp		Somatic				MAP7_ENST00000544465.1_Missense_Mutation_p.R91W|MAP7_ENST00000454590.1_Missense_Mutation_p.R128W|MAP7_ENST00000438100.2_Missense_Mutation_p.R128W|MAP7_ENST00000432797.2_5'UTR	p.R106W	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	WXS	Illumina GAIIx	Phase_I	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	4	726	-	Colorectal(23;0.24)		106					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.316C>T	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102169	0.56183	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.08	2.17	0.27698	.	0.000000	0.49916	D	0.000123	T	0.30479	0.0766	M	0.86502	2.82	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	0.91635	0.997;0.997;0.999;0.997;0.981;0.999;0.997	T	0.37731	-0.9693	10	0.87932	D	0	-11.5277	14.2869	0.66251	0.0:0.0:0.6139:0.386	.	128;128;91;128;128;106;106	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	W	106;128;91;128	ENSP00000346581:R106W;ENSP00000414712:R128W;ENSP00000445737:R91W;ENSP00000400790:R128W	ENSP00000346581:R106W	R	-	1	2	MAP7	136752277	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	3.356000	0.52269	0.200000	0.20447	0.557000	0.71058	CGG		0.527	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		43	77	0	0	0	1	0	43	77					A	136710584	G	A	136710584	3	1	19	1	0	0	0	0	1	0	0	0	9275	1086	38	1	1993	1	MAP7	6	136710584	Missense_Mutation	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08	2219052	136710584	34404483	17	1326										
CLIP2	7461	broad.mit.edu	37	chr7	73731941	73731941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	gcactccagccccatgggccGgacatctactgggtcagctt	11	15	2	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr7:73731941G>A	ENST00000395060.1	+	1	65	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	CLIP2_ENST00000223398.6_Missense_Mutation_p.R22Q|CLIP2_ENST00000361545.5_Missense_Mutation_p.R22Q			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	22						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCCATGGGCCGGACATCTACT	0.672																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(64-66)cGg>cAg		CAP-GLY domain containing linker protein 2							63	68	66					7																	73731941		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73731941G>A	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.65G>A	7.37:g.73731941G>A	ENSP00000378500:p.Arg22Gln		Somatic				CLIP2_ENST00000395060.1_Missense_Mutation_p.R22Q|CLIP2_ENST00000361545.5_Missense_Mutation_p.R22Q	p.R22Q	NM_003388.4	NP_003379.3	WXS	Illumina GAIIx	Phase_I	Q9UDT6	CLIP2_HUMAN			2	392	+			22					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.65G>A	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831725	0.71258	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.59502	0.26;0.3;0.26	4.52	4.52	0.55395	.	0.000000	0.64402	D	0.000002	T	0.62925	0.2468	L	0.27053	0.805	0.38913	D	0.957579	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.66630	-0.5875	10	0.52906	T	0.07	-35.507	12.629	0.56646	0.0:0.0:1.0:0.0	.	22;22	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	Q	22	ENSP00000223398:R22Q;ENSP00000355151:R22Q;ENSP00000378500:R22Q	ENSP00000223398:R22Q	R	+	2	0	CLIP2	73369877	1.000000	0.71417	0.991000	0.47740	0.387000	0.30353	4.642000	0.61383	2.340000	0.79590	0.561000	0.74099	CGG		0.672	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		75	100	0	0	0	1	0	75	100					A	73731941	G	A	73731941	3	1	19	1	0	0	0	0	1	0	0	0	3535	1116	39	1	67	1	CLIP2	7	73731941	Missense_Mutation	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08		73731941	85406722	18	1327										
ZAN	7455	broad.mit.edu	37	chr7	100348502	100348502	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	ccgtcaccgtcccctcaggaCaccaacagcccatgcaggtg	9	18	2	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr7:100348502C>T	ENST00000348028.3	+	0	1669				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCCTCAGGACACCAACAGCC	0.647																																						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)							31	33	32					7																	100348502		1956	4145	6101			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100348502C>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.100348502C>T			Somatic				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_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	1652	+	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	9.609	1.130827	0.21041	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.01947	4.54;4.54;4.54	4.24	0.286	0.15710	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.196730	0.25344	N	0.031346	T	0.01940	0.0061	L	0.32530	0.975	0.46954	D	0.99926	B;B	0.18013	0.02;0.025	B;B	0.20955	0.019;0.032	T	0.53121	-0.8483	10	0.42905	T	0.14	.	6.3703	0.21477	0.0:0.5678:0.0:0.4322	.	502;502	F5H0T8;Q9Y493	.;ZAN_HUMAN	Y	502	ENSP00000445943:H502Y;ENSP00000445091:H502Y;ENSP00000444427:H502Y	ENSP00000423579:H502Y	H	+	1	0	ZAN	100186438	0.196000	0.23350	0.337000	0.25536	0.605000	0.37080	0.358000	0.20216	0.138000	0.18790	-0.142000	0.14014	CAC		0.647	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		20	27	0	0	0	1	0	20	27					T	100348502	C	T	100348502	1	4	19	0	1	0	0	0	0	0	0	0	17528	478	17	3		3	ZAN	7	100348502	RNA	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08	26616561	100348502	58790161	19	1328										
ZNF775	285971	broad.mit.edu	37	chr7	150094403	150094403	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	cccgaggggccgggcgagccGcgccagttcatctgcaacga	15	15	2	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr7:150094403G>A	ENST00000329630.5	+	3	941	c.834G>A	c.(832-834)ccG>ccA	p.P278P		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		cgggcgagccgcgccAGTTCA	0.741																																						ENST00000329630.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11						c.(832-834)ccG>ccA		zinc finger protein 775							10	12	11					7																	150094403		2050	4176	6226	SO:0001819	synonymous_variant	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150094403G>A	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"Zinc fingers, C2H2-type"	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.834G>A	7.37:g.150094403G>A			Somatic					p.P278P	NM_173680.3	NP_775951.2	WXS	Illumina GAIIx	Phase_I	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	941	+	Ovarian(565;0.183)|Melanoma(164;0.226)		278					Q8IY24	Silent	SNP	ENST00000329630.5	37	c.834G>A	CCDS43678.1																																																																																				0.741	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		14	25	0	0	0	1	0	14	25					A	150094403	G	A	150094403	2	1	19	1	0	0	0	0	0	0	0	1	18163	1074	38	1		1	ZNF775	7	150094403	Silent	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08	49745901	150094403	9044260	20	1329										
SCRIB	23513	broad.mit.edu	37	chr8	144892705	144892705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	gcaagggcaggcctcgctccGccgcccctcgatgctcctct	11	19	1	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr8:144892705G>A	ENST00000320476.3	-	13	1480	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	SCRIB_ENST00000356994.2_Missense_Mutation_p.R492W|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000377533.3_Missense_Mutation_p.R411W	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	492	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCCTCGCTCCGCCGCCCCTCG	0.682																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1474-1476)Cgg>Tgg		scribbled planar cell polarity protein							70	74	72					8																	144892705		2203	4300	6503	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144892705G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1474C>T	8.37:g.144892705G>A	ENSP00000322938:p.Arg492Trp		Somatic				SCRIB_ENST00000320476.3_Missense_Mutation_p.R492W|SCRIB_ENST00000377533.3_Missense_Mutation_p.R411W	p.R492W	NM_182706.4	NP_874365.3	WXS	Illumina GAIIx	Phase_I	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		13	1480	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		492			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1474C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187463	0.57909	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.78126	-1.15;-1.15;-1.15	4.35	3.48	0.39840	.	.	.	.	.	D	0.83547	0.5278	M	0.62266	1.93	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82837	-0.0260	9	0.87932	D	0	.	7.096	0.25309	0.0896:0.0:0.7421:0.1683	.	492;492	Q14160;Q14160-3	SCRIB_HUMAN;.	W	492;492;411	ENSP00000349486:R492W;ENSP00000322938:R492W;ENSP00000366756:R411W	ENSP00000322938:R492W	R	-	1	2	SCRIB	144964693	0.995000	0.38212	0.247000	0.24249	0.024000	0.10985	3.022000	0.49659	0.965000	0.38133	-0.244000	0.11960	CGG		0.682	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		19	148	0	0	0	1	0	19	148					A	144892705	G	A	144892705	3	1	19	1	0	0	0	0	1	0	0	0	13952	1086	38	1	3593	1	SCRIB	8	144892705	Missense_Mutation	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08		144892705	1471317	21	1330										
TMEM215	401498	broad.mit.edu	37	chr9	32784834	32784834	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	gaacagcccgtatgacagatActgttgttatatcaatcaga	8	8	2	3			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr9:32784834A>G	ENST00000342743.5	+	2	1018	c.653A>G	c.(652-654)tAc>tGc	p.Y218C		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	218						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TATGACAGATACTGTTGTTAT	0.478																																						ENST00000342743.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(652-654)tAc>tGc		transmembrane protein 215							75	66	69					9																	32784834		2191	4276	6467	SO:0001583	missense	401498					integral to membrane		g.chr9:32784834A>G		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.653A>G	9.37:g.32784834A>G	ENSP00000345468:p.Tyr218Cys		Somatic					p.Y218C	NM_212558.2	NP_997723.2	WXS	Illumina GAIIx	Phase_I	Q68D42	TM215_HUMAN			2	1018	+			218					Q6ZUU2	Missense_Mutation	SNP	ENST00000342743.5	37	c.653A>G	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.167224	0.38315	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000011	T	0.64746	0.2626	L	0.27053	0.805	0.52501	D	0.999955	D	0.89917	1.0	D	0.83275	0.996	T	0.68926	-0.5280	9	0.87932	D	0	-16.6866	13.6778	0.62465	1.0:0.0:0.0:0.0	.	218	Q68D42	TM215_HUMAN	C	218	.	ENSP00000345468:Y218C	Y	+	2	0	TMEM215	32774834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.701000	0.74624	2.119000	0.64992	0.533000	0.62120	TAC		0.478	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558		15	55	0	0	0	1	0	15	55					G	32784834	A	G	32784834	3	3	19	1	0	0	0	0	1	0	0	0	16153	391	14	4	655	4	TMEM215	9	32784834	Missense_Mutation	SNP	A	TCGA-N6-A4VF-01A-31D-A28R-08		32784834	108428597	22	1331										
PTEN	5728	broad.mit.edu	37	chr10	89692904	89692904	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	actgtaaagctggaaagggaCgaactggtgtaatgatatgt	13	4	0	1	rs121913292|rs121909224		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr10:89692904C>G	ENST00000371953.3	+	5	1745	c.388C>G	c.(388-390)Cga>Gga	p.R130G		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		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.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(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)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	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	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	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"		224	Substitution - Missense(102)|Substitution - Nonsense(63)|Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(2)|Substitution - coding silent(1)	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)	endometrium(125)|central_nervous_system(37)|prostate(21)|ovary(10)|lung(9)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|breast(3)|cervix(2)|large_intestine(2)|soft_tissue(2)|thyroid(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	CM971273	PTEN	M	rs121909224	c.(388-390)Cga>Gga		phosphatase and tensin homolog							141	131	134					10																	89692904		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.chr10:89692904C>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.388C>G	10.37:g.89692904C>G	ENSP00000361021:p.Arg130Gly	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic					p.R130G	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	1745	+		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)	130		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.388C>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305770	0.81247	.	.	ENSG00000171862	ENST00000371953	D	0.98362	-4.89	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99501	0.9822	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97828	1.0261	9	.	.	.	-1.7685	18.7776	0.91918	0.0:1.0:0.0:0.0	.	130	P60484	PTEN_HUMAN	G	130	ENSP00000361021:R130G	.	R	+	1	2	PTEN	89682884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.527000	0.67123	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		29	36	0	0	0	1	0	29	36					G	89692904	C	G	89692904	3	3	19	1	0	0	0	0	1	0	0	0	12750	528	19	5	406	5	PTEN	10	89692904	Missense_Mutation	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08		89692904	45841843	23	1332										
PTPN5	84867	broad.mit.edu	37	chr11	18755102	18755102	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	cgtcagggtgggaatacgtaCccggatgtagttggcattga	15	7	1	1			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:18755102C>T	ENST00000358540.2	-	10	1511		c.e10+1		PTPN5_ENST00000477854.1_Splice_Site|PTPN5_ENST00000396167.2_Splice_Site|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396170.1_Splice_Site|PTPN5_ENST00000396171.4_Splice_Site|PTPN5_ENST00000396166.3_5'Flank|PTPN5_ENST00000396168.1_Splice_Site	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGAATACGTACCCGGATGTAG	0.592																																						ENST00000396170.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						c.e10+1		protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)							157	146	150					11																	18755102		2199	4293	6492	SO:0001630	splice_region_variant	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18755102C>T	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1080+1G>A	11.37:g.18755102C>T			Somatic				RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Splice_Site|PTPN5_ENST00000396167.2_Splice_Site|PTPN5_ENST00000396171.4_Splice_Site|PTPN5_ENST00000477854.1_Splice_Site|PTPN5_ENST00000358540.2_Splice_Site		NM_001278236.1	NP_001265165.1	WXS	Illumina GAIIx	Phase_I	P54829	PTN5_HUMAN			10	2249	-								B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Splice_Site	SNP	ENST00000358540.2	37		CCDS7845.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870548	0.91587	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPN5	18711678	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.420000	0.80191	2.677000	0.91161	0.655000	0.94253	.		0.592	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970	Intron	35	56	0	0	0	1	0	35	56					T	18755102	C	T	18755102	5	4	19	1	0	0	0	0	0	0	1	0	12806	521	18	3	640	3	PTPN5	11	18755102	Splice_Site	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08		18755102	116251414	24	1333										
KCNA4	3739	broad.mit.edu	37	chr11	30034018	30034018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	agggtcatgggaggtacaggCcccgcgtgactggtggtggt	19	8	1	1			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:30034018C>T	ENST00000328224.6	-	2	1441	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	70					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GAGGTACAGGCCCCGCGTGAC	0.662																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(208-210)Gcc>Acc		potassium voltage-gated channel, shaker-related subfamily, member 4							39	41	40					11																	30034018		1963	4141	6104	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034018C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.208G>A	11.37:g.30034018C>T	ENSP00000328511:p.Ala70Thr		Somatic					p.A70T	NM_002233.3	NP_002224.1	WXS	Illumina GAIIx	Phase_I	P22459	KCNA4_HUMAN			2	1441	-			70						Missense_Mutation	SNP	ENST00000328224.6	37	c.208G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529385	0.27387	.	.	ENSG00000182255	ENST00000328224	D	0.97279	-4.32	4.75	-0.486	0.12064	Potassium channel, voltage dependent, Kv1.4, tandem inactivation (2);	32.803700	0.00166	N	0.000000	D	0.91459	0.7304	N	0.14661	0.345	0.40374	D	0.979373	B	0.06786	0.001	B	0.10450	0.005	T	0.81924	-0.0710	10	0.21014	T	0.42	.	3.1496	0.06483	0.1229:0.5552:0.1197:0.2021	.	70	P22459	KCNA4_HUMAN	T	70	ENSP00000328511:A70T	ENSP00000328511:A70T	A	-	1	0	KCNA4	29990594	0.998000	0.40836	0.503000	0.27626	0.574000	0.36063	2.355000	0.44107	0.093000	0.17368	0.491000	0.48974	GCC		0.662	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		13	66	0	0	0	1	0	13	66					T	30034018	C	T	30034018	3	4	19	1	0	0	0	0	1	0	0	0	8014	739	26	3	1757	3	KCNA4	11	30034018	Missense_Mutation	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08	11278916	30034018	104972498	25	1334										
LRRC4C	57689	broad.mit.edu	37	chr11	40137424	40137424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	agtatacaaaagctccattcGggatggtagtaagacgattg	11	6	0	1			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:40137424G>A	ENST00000278198.2	-	2	2382	c.419C>T	c.(418-420)cCg>cTg	p.P140L	LRRC4C_ENST00000530763.1_Missense_Mutation_p.P140L|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P140L|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P140L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	140					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGCTCCATTCGGGATGGTAGT	0.423																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(418-420)cCg>cTg		leucine rich repeat containing 4C							68	70	69					11																	40137424		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137424G>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.419C>T	11.37:g.40137424G>A	ENSP00000278198:p.Pro140Leu		Somatic				LRRC4C_ENST00000530763.1_Missense_Mutation_p.P140L|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P140L|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P140L	p.P140L			WXS	Illumina GAIIx	Phase_I	Q9HCJ2	LRC4C_HUMAN			2	2382	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	140					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.419C>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663051	0.67700	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.33933	0.0880	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01998	-1.1232	10	0.62326	D	0.03	.	19.0894	0.93221	0.0:0.0:1.0:0.0	.	140	Q9HCJ2	LRC4C_HUMAN	L	140	ENSP00000278198:P140L;ENSP00000436976:P140L;ENSP00000437132:P140L;ENSP00000434761:P140L	ENSP00000278198:P140L	P	-	2	0	LRRC4C	40094000	1.000000	0.71417	0.967000	0.41034	0.992000	0.81027	9.813000	0.99286	2.754000	0.94517	0.650000	0.86243	CCG		0.423	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		12	29	0	0	0	1	0	12	29					A	40137424	G	A	40137424	3	1	19	1	0	0	0	0	1	0	0	0	9017	1116	39	1	1507	1	LRRC4C	11	40137424	Missense_Mutation	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08	10103406	40137424	94869092	26	1335										
MEN1	4221	broad.mit.edu	37	chr11	64572230	64572230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	cccgggcttcctcgccccacGgctcctcggcctcggccgcc	11	23	0	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:64572230G>A	ENST00000337652.1	-	10	1927	c.1424C>T	c.(1423-1425)cCg>cTg	p.P475L	MEN1_ENST00000394374.2_Missense_Mutation_p.P475L|MEN1_ENST00000315422.4_Missense_Mutation_p.P470L|MEN1_ENST00000312049.6_Missense_Mutation_p.P470L|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000377321.1_Missense_Mutation_p.P435L|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000377326.3_Missense_Mutation_p.P470L|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000377313.1_Missense_Mutation_p.P475L|MEN1_ENST00000377316.2_Missense_Mutation_p.P415L|MEN1_ENST00000394376.1_Missense_Mutation_p.P475L|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000443283.1_Missense_Mutation_p.P475L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	475					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CTCGCCCCACGGCTCCTCGGC	0.731			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(1423-1425)cCg>cTg		multiple endocrine neoplasia I							19	22	21					11																	64572230		1675	3618	5293	SO:0001583	missense	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572230G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1424C>T	11.37:g.64572230G>A	ENSP00000337088:p.Pro475Leu		Somatic				MEN1_ENST00000443283.1_Missense_Mutation_p.P475L|MEN1_ENST00000377321.1_Missense_Mutation_p.P435L|MEN1_ENST00000377313.1_Missense_Mutation_p.P475L|MEN1_ENST00000377316.2_Missense_Mutation_p.P415L|MEN1_ENST00000394374.2_Missense_Mutation_p.P475L|MEN1_ENST00000312049.6_Missense_Mutation_p.P470L|MEN1_ENST00000394376.1_Missense_Mutation_p.P475L|MEN1_ENST00000315422.4_Missense_Mutation_p.P470L|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Missense_Mutation_p.P470L	p.P475L	NM_130803.2	NP_570715.1	WXS	Illumina GAIIx	Phase_I	O00255	MEN1_HUMAN			10	1927	-			475					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.1424C>T	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635024	0.29068	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;D;D;D;D;D;D;D;D;D	0.99292	-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7	4.54	2.53	0.30540	.	0.590600	0.17440	N	0.174147	D	0.95828	0.8642	N	0.14661	0.345	0.36411	D	0.863747	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	D	0.94235	0.7480	10	0.28530	T	0.3	-13.5933	7.26	0.26197	0.2377:0.0:0.7623:0.0	.	470;435;475	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	L	415;435;470;470;470;475;475;475;475;475	ENSP00000366533:P415L;ENSP00000366538:P435L;ENSP00000366543:P470L;ENSP00000308975:P470L;ENSP00000323747:P470L;ENSP00000337088:P475L;ENSP00000377901:P475L;ENSP00000377899:P475L;ENSP00000396940:P475L;ENSP00000366530:P475L	ENSP00000308975:P470L	P	-	2	0	MEN1	64328806	0.960000	0.32886	0.783000	0.31826	0.542000	0.35054	1.579000	0.36536	0.985000	0.38656	0.456000	0.33151	CCG		0.731	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			20	56	0	0	0	1	0	20	56					A	64572230	G	A	64572230	3	1	19	1	0	0	0	0	1	0	0	0	9481	1116	39	1	427	1	MEN1	11	64572230	Missense_Mutation	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08	24434806	64572230	70434286	27	1336										
MAML2	84441	broad.mit.edu	37	chr11	95718733	95718733	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	gttgcatattgcccacatttCttctttggtctttataatct	5	9	4	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:95718733C>T	ENST00000524717.1	-	4	3701	c.2417G>A	c.(2416-2418)aGa>aAa	p.R806K		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	806					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GCCCACATTTCTTCTTTGGTC	0.323			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"MECT1, CRTC3"		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2416-2418)aGa>aAa		mastermind-like 2 (Drosophila)							182	155	163					11																	95718733		1833	4083	5916	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.chr11:95718733C>T	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.2417G>A	11.37:g.95718733C>T	ENSP00000434552:p.Arg806Lys		Somatic					p.R806K	NM_032427.1	NP_115803.1	WXS	Illumina GAIIx	Phase_I	Q8IZL2	MAML2_HUMAN			4	3701	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	806					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.2417G>A	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759343	0.89932	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.51574	0.7;0.7	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000003	T	0.62563	0.2438	L	0.42245	1.32	0.32156	N	0.583626	D	0.69078	0.997	D	0.72625	0.978	T	0.64888	-0.6301	10	0.39692	T	0.17	-18.1389	19.3136	0.94202	0.0:1.0:0.0:0.0	.	806	Q8IZL2	MAML2_HUMAN	K	806	ENSP00000434552:R806K;ENSP00000412394:R806K	ENSP00000412394:R806K	R	-	2	0	MAML2	95358381	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.951000	0.63610	2.574000	0.86865	0.561000	0.74099	AGA		0.323	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			5	15	0	0	0	1	0	5	15					T	95718733	C	T	95718733	3	4	19	1	0	0	0	0	1	0	0	0	9215	913	32	3	1061	3	MAML2	11	95718733	Missense_Mutation	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08	31146503	95718733	39287783	28	1337										
DSCAML1	57453	broad.mit.edu	37	chr11	117391968	117391968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	cgtctcgttgctgagcccgcGgatggagatggcctcgtcag	15	12	2	2			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:117391968G>A	ENST00000321322.6	-	6	1271	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R154C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	364	Ig-like C2-type 5.				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)		CTGAGCCCGCGGATGGAGATG	0.652																																						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.(1270-1272)Cgc>Tgc		Down syndrome cell adhesion molecule like 1							120	101	107					11																	117391968		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.chr11:117391968G>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.1270C>T	11.37:g.117391968G>A	ENSP00000315465:p.Arg424Cys		Somatic				DSCAML1_ENST00000527706.1_Missense_Mutation_p.R154C	p.R424C	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)	6	1271	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	364			Ig-like C2-type 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.1270C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080319	0.94050	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.68479	-0.33;-0.33	4.85	4.85	0.62838	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80138	0.4568	M	0.84326	2.69	0.80722	D	1	D;D	0.57257	0.979;0.971	P;P	0.56788	0.707;0.806	T	0.80850	-0.1198	9	0.38643	T	0.18	.	18.1535	0.89684	0.0:0.0:1.0:0.0	.	154;364	G3V1B5;Q8TD84	.;DSCL1_HUMAN	C	154;424;131	ENSP00000434335:R154C;ENSP00000315465:R424C	ENSP00000315465:R424C	R	-	1	0	DSCAML1	116897178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.067000	0.71193	2.519000	0.84933	0.609000	0.83330	CGC		0.652	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		58	108	0	0	0	1	0	58	108					A	117391968	G	A	117391968	3	1	19	1	0	0	0	0	1	0	0	0	4771	1116	39	1	5183	1	DSCAML1	11	117391968	Missense_Mutation	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08	21673235	117391968	17614548	29	1338										
OR8A1	390275	broad.mit.edu	37	chr11	124440650	124440650	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	catcatagtcacgagcttaaCagttcttgtttcttacacct	5	11	4	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:124440650C>A	ENST00000284287.3	+	1	758	c.686C>A	c.(685-687)aCa>aAa	p.T229K		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	229					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		ACGAGCTTAACAGTTCTTGTT	0.498																																						ENST00000284287.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22						c.(685-687)aCa>aAa		olfactory receptor, family 8, subfamily A, member 1							117	113	114					11																	124440650		2201	4299	6500	SO:0001583	missense	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440650C>A	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"GPCR / Class A : Olfactory receptors"	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.686C>A	11.37:g.124440650C>A	ENSP00000284287:p.Thr229Lys		Somatic					p.T229K	NM_001005194.1	NP_001005194.1	WXS	Illumina GAIIx	Phase_I	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	758	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	229					Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	c.686C>A	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894264	0.33442	.	.	ENSG00000196119	ENST00000284287	T	0.38077	1.16	5.03	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.667620	0.13051	N	0.417660	T	0.53899	0.1825	M	0.88310	2.945	0.09310	N	1	P	0.45212	0.853	P	0.52267	0.694	T	0.47086	-0.9144	10	0.87932	D	0	.	7.0112	0.24863	0.0:0.5244:0.0:0.4756	.	229	Q8NGG7	OR8A1_HUMAN	K	229	ENSP00000284287:T229K	ENSP00000284287:T229K	T	+	2	0	OR8A1	123945860	0.000000	0.05858	0.026000	0.17262	0.441000	0.31987	-0.813000	0.04491	0.310000	0.22990	-0.133000	0.14855	ACA		0.498	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		20	42	1	0	1.56452e-12	1	1.63063e-12	20	42					A	124440650	C	A	124440650	3	1	19	1	0	0	0	0	1	0	0	0	11234	478	17	5	688	5	OR8A1	11	124440650	Missense_Mutation	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08	7048682	124440650	10565866	30	1339										
ZC3H10	84872	broad.mit.edu	37	chr12	56515410	56515410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	tgctgctccaccacccccacCcccacacttgaccccagaga	5	22	0	2			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:56515410C>T	ENST00000257940.2	+	3	1340	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	355	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CCACCCCCACCCCCACACTTG	0.627																																						ENST00000257940.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11						c.(1063-1065)cCc>cTc		zinc finger CCCH-type containing 10							78	67	71					12																	56515410		2203	4300	6503	SO:0001583	missense	84872						nucleic acid binding|zinc ion binding	g.chr12:56515410C>T	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"Zinc fingers, CCCH-type domain containing"	25893	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 10"	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.1064C>T	12.37:g.56515410C>T	ENSP00000257940:p.Pro355Leu		Somatic				RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	p.P355L	NM_032786.1	NP_116175.1	WXS	Illumina GAIIx	Phase_I	Q96K80	ZC3HA_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.12)		3	1340	+			355			Pro-rich.			Missense_Mutation	SNP	ENST00000257940.2	37	c.1064C>T	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160470	0.38119	.	.	ENSG00000135482	ENST00000257940	.	.	.	4.89	4.89	0.63831	.	0.000000	0.37261	N	0.002168	T	0.61426	0.2346	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.64381	-0.6421	9	0.59425	D	0.04	-3.0131	13.7562	0.62937	0.0:1.0:0.0:0.0	.	355	Q96K80	ZC3HA_HUMAN	L	355	.	ENSP00000257940:P355L	P	+	2	0	ZC3H10	54801677	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.119000	0.57891	2.711000	0.92665	0.643000	0.83706	CCC		0.627	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1	NM_032786		25	46	0	0	0	1	0	25	46					T	56515410	C	T	56515410	3	4	19	1	0	0	0	0	1	0	0	0	17574	623	22	3	1066	3	ZC3H10	12	56515410	Missense_Mutation	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08		56515410	77336485	31	1340										
ARHGAP9	64333	broad.mit.edu	37	chr12	57871401	57871401	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	gggggtggggaccgaggacaGcggcgaaggtccaccaggtt	20	9	0	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:57871401G>T	ENST00000356411.2	-	4	735	c.597C>A	c.(595-597)cgC>cgA	p.R199R	ARHGAP9_ENST00000550288.1_Silent_p.R278R|ARHGAP9_ENST00000393797.2_Silent_p.R270R|ARHGAP9_ENST00000393791.3_Silent_p.R199R|ARHGAP9_ENST00000430041.2_Silent_p.R15R|ARHGAP9_ENST00000424809.2_Silent_p.R199R|ARHGAP9_ENST00000550454.1_5'UTR			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	199					positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			ACCGAGGACAGCGGCGAAGGT	0.647																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(808-810)cgC>cgA		Rho GTPase activating protein 9							26	31	29					12																	57871401		2202	4300	6502	SO:0001819	synonymous_variant	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57871401G>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.597C>A	12.37:g.57871401G>T			Somatic				ARHGAP9_ENST00000356411.2_Silent_p.R199R|ARHGAP9_ENST00000424809.2_Silent_p.R199R|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000550288.1_Silent_p.R278R|ARHGAP9_ENST00000393791.3_Silent_p.R199R|ARHGAP9_ENST00000430041.2_Silent_p.R15R	p.R270R			WXS	Illumina GAIIx	Phase_I	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		7	1002	-			199					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	ENST00000356411.2	37	c.810C>A																																																																																					0.647	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		23	55	1	0	3.5997e-14	1	3.8054e-14	23	55					T	57871401	G	T	57871401	2	4	19	1	0	0	0	0	0	0	0	1	889	958	34	5		5	ARHGAP9	12	57871401	Silent	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08	1355991	57871401	75980494	32	1341										
NAV3	89795	broad.mit.edu	37	chr12	78400511	78400511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	caatgcccggactgctttacGccccccgcagcctcccagtt	8	19	0	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:78400511G>A	ENST00000397909.2	+	8	1366	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	NAV3_ENST00000266692.7_Missense_Mutation_p.R398H|NAV3_ENST00000228327.6_Missense_Mutation_p.R398H|NAV3_ENST00000536525.2_Missense_Mutation_p.R398H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						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						ACTGCTTTACGCCCCCCGCAG	0.498										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.(1192-1194)cGc>cAc		neuron navigator 3							88	90	90					12																	78400511		1976	4151	6127	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400511G>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.1193G>A	12.37:g.78400511G>A	ENSP00000381007:p.Arg398His	HNSCC(70;0.22)	Somatic				NAV3_ENST00000228327.6_Missense_Mutation_p.R398H|NAV3_ENST00000536525.2_Missense_Mutation_p.R398H|NAV3_ENST00000266692.7_Missense_Mutation_p.R398H	p.R398H			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			8	1366	+			398					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1193G>A		.	.	.	.	.	.	.	.	.	.	G	16.81	3.224806	0.58668	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.63096	-0.02;1.52;1.52;1.52;1.35	5.74	4.85	0.62838	.	0.000000	0.37669	U	0.001999	T	0.64702	0.2622	L	0.38175	1.15	0.80722	D	1	D;P	0.71674	0.998;0.951	P;P	0.55161	0.77;0.484	T	0.67681	-0.5608	10	0.72032	D	0.01	-13.5137	14.1814	0.65577	0.0712:0.0:0.9288:0.0	.	398;398	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	H	398	ENSP00000446628:R398H;ENSP00000446132:R398H;ENSP00000381007:R398H;ENSP00000228327:R398H;ENSP00000266692:R398H	ENSP00000228327:R398H	R	+	2	0	NAV3	76924642	1.000000	0.71417	0.956000	0.39512	0.243000	0.25628	6.491000	0.73649	2.715000	0.92844	0.655000	0.94253	CGC		0.498	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		38	59	0	0	0	1	0	38	59					A	78400511	G	A	78400511	3	1	19	1	0	0	0	0	1	0	0	0	10194	1087	38	1	1223	1	NAV3	12	78400511	Missense_Mutation	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08	20529110	78400511	55451384	33	1342										
RIC8B	55188	broad.mit.edu	37	chr12	107236410	107236410	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	atgttccagtctcttgtttgGatgttctcatttgtccgtta	8	8	2	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:107236410G>C	ENST00000392839.2	+	5	986	c.880G>C	c.(880-882)Gat>Cat	p.D294H	RIC8B_ENST00000392837.4_Missense_Mutation_p.D294H|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.D254H	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	294					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CTCTTGTTTGGATGTTCTCAT	0.348																																						ENST00000392837.4																			0				kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(880-882)Gat>Cat		RIC8 guanine nucleotide exchange factor B							112	111	111					12																	107236410		2203	4300	6503	SO:0001583	missense	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107236410G>C	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.880G>C	12.37:g.107236410G>C	ENSP00000376583:p.Asp294His		Somatic				RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.D254H|RIC8B_ENST00000392839.2_Missense_Mutation_p.D294H	p.D294H			WXS	Illumina GAIIx	Phase_I	Q9NVN3	RIC8B_HUMAN			5	1031	+			294					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	c.880G>C	CCDS9109.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.241421|4.241421	0.79912|0.79912	.|.	.|.	ENSG00000111785|ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478|ENST00000548914	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74951|0.74951	0.3784|0.3784	M|M	0.66297|0.66297	2.02|2.02	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.999;1.0|.	T|T	0.73183|0.73183	-0.4063|-0.4063	9|5	0.62326|.	D|.	0.03|.	-8.9734|-8.9734	19.1936|19.1936	0.93677|0.93677	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	254;294;294|.	Q9NVN3-3;Q9NVN3;B7WPL0|.	.;RIC8B_HUMAN;.|.	H|C	294;294;254|118	.|.	ENSP00000347662:D254H|.	D|W	+|+	1|3	0|0	RIC8B|RIC8B	105760540|105760540	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.476000|9.476000	0.97823|0.97823	2.540000|2.540000	0.85666|0.85666	0.655000|0.655000	0.94253|0.94253	GAT|TGG		0.348	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		10	35	0	0	0	1	0	10	35					C	107236410	G	C	107236410	3	2	19	1	0	0	0	0	1	0	0	0	13371	1174	41	2	898	2	RIC8B	12	107236410	Missense_Mutation	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08	28835899	107236410	26615485	34	1343										
F10	2159	broad.mit.edu	37	chr13	113803456	113803456	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	acggggattgtgagcggcttCgggcgcacccacgagaaggg	18	10	0	2			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr13:113803456C>T	ENST00000375559.3	+	8	1130	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	364	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	TGAGCGGCTTCGGGCGCACCC	0.647																																						ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(1090-1092)ttC>ttT		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						44	41	42					13																	113803456		2203	4299	6502	SO:0001819	synonymous_variant	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803456C>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1092C>T	13.37:g.113803456C>T			Somatic				F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	p.F364F	NM_000504.3	NP_000495.1	WXS	Illumina GAIIx	Phase_I	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		8	1130	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	364			Peptidase S1.		Q14340	Silent	SNP	ENST00000375559.3	37	c.1092C>T	CCDS9530.1																																																																																				0.647	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			30	21	0	0	0	1	0	30	21					T	113803456	C	T	113803456	2	4	19	1	0	0	0	0	0	0	0	1	5338	883	31	1		1	F10	13	113803456	Silent	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08		113803456	1366422	35	1344										
MBIP	51562	broad.mit.edu	37	chr14	36780847	36780847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	cagcctgattaccacagtctCgaagcatgctgttaggttta	9	10	1	1	rs140089260	byFrequency	TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr14:36780847C>T	ENST00000416007.4	-	6	809	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	MBIP_ENST00000318473.7_Missense_Mutation_p.R241Q|MBIP_ENST00000603913.1_5'UTR|MBIP_ENST00000359527.7_Missense_Mutation_p.R241Q	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	241	Interaction with MAP3K12.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		ACCACAGTCTCGAAGCATGCT	0.428																																						ENST00000416007.4																			0				breast(2)|large_intestine(1)|lung(5)	8						c.(721-723)cGa>cAa		MAP3K12 binding inhibitory protein 1		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	118	98	104		722,722	6.2	1	14	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	MBIP	NM_001144891.1,NM_016586.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	241/344,241/345	36780847	1,13005	2203	4300	6503	SO:0001583	missense	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36780847C>T	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.722G>A	14.37:g.36780847C>T	ENSP00000399718:p.Arg241Gln		Somatic				MBIP_ENST00000318473.7_Missense_Mutation_p.R241Q|MBIP_ENST00000359527.7_Missense_Mutation_p.R241Q|MBIP_ENST00000603913.1_5'UTR	p.R241Q	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	WXS	Illumina GAIIx	Phase_I	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	6	809	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		241			Interaction with MAP3K12.		Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	c.722G>A	CCDS9658.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619339	0.66787	0.0	1.16E-4	ENSG00000151332	ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553298	T;T;T	0.41400	1.0;1.0;1.0	6.17	6.17	0.99709	.	0.174114	0.51477	D	0.000096	T	0.53318	0.1789	M	0.67953	2.075	0.37619	D	0.921245	P;D;D;B	0.76494	0.89;0.999;0.999;0.386	B;P;P;B	0.55871	0.376;0.786;0.786;0.038	T	0.60637	-0.7224	10	0.56958	D	0.05	-3.9346	9.3033	0.37858	0.146:0.7779:0.0:0.0762	.	215;241;241;241	B4DE55;Q9NS73-5;Q9NS73-3;Q9NS73	.;.;.;MBIP1_HUMAN	Q	241;241;241;248;201	ENSP00000399718:R241Q;ENSP00000324444:R241Q;ENSP00000352517:R241Q	ENSP00000324444:R241Q	R	-	2	0	MBIP	35850598	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.046000	0.49846	2.941000	0.99782	0.655000	0.94253	CGA		0.428	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		11	25	0	0	0	1	0	11	25					T	36780847	C	T	36780847	3	4	19	1	0	0	0	0	1	0	0	0	9358	884	31	1	328	1	MBIP	14	36780847	Missense_Mutation	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08		36780847	70568693	36	1345										
MUDENG	55745	broad.mit.edu	37	chr14	57736076	57736076	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	cataagccacgaaccgggaaCtccactttgtggcaccgtga	10	13	0	1			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr14:57736076C>A	ENST00000261558.3	+	1	450	c.44C>A	c.(43-45)aCt>aAt	p.T15N	EXOC5_ENST00000340918.7_5'Flank|AP5M1_ENST00000431972.2_Missense_Mutation_p.T15N|EXOC5_ENST00000413566.2_5'Flank	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	15					endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											GAACCGGGAACTCCACTTTGT	0.488																																						ENST00000261558.3																			0											c.(43-45)aCt>aAt		adaptor-related protein complex 5, mu 1 subunit							126	118	121					14																	57736076		2203	4300	6503	SO:0001583	missense	55745				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		g.chr14:57736076C>A	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"Mu-2 related death-inducing gene"	614368	"chromosome 14 open reading frame 108", "MU-2/AP1M2 domain containing, death-inducing"	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.44C>A	14.37:g.57736076C>A	ENSP00000261558:p.Thr15Asn		Somatic				AP5M1_ENST00000431972.2_Missense_Mutation_p.T15N	p.T15N	NM_018229.3	NP_060699.3	WXS	Illumina GAIIx	Phase_I	Q9H0R1	MUDEN_HUMAN			1	450	+			15					O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	c.44C>A	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649833	0.29336	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.31510	1.57;1.49	5.93	5.04	0.67666	.	0.316431	0.39834	N	0.001252	T	0.30230	0.0758	L	0.51422	1.61	0.24512	N	0.994202	B;B	0.11235	0.001;0.004	B;B	0.09377	0.001;0.004	T	0.12708	-1.0537	10	0.32370	T	0.25	.	15.3689	0.74548	0.0:0.8614:0.1386:0.0	.	15;15	Q9H0R1;Q9H0R1-2	MUDEN_HUMAN;.	N	15	ENSP00000261558:T15N;ENSP00000390531:T15N	ENSP00000261558:T15N	T	+	2	0	MUDENG	56805829	0.939000	0.31865	0.977000	0.42913	0.274000	0.26718	1.860000	0.39428	1.494000	0.48533	0.655000	0.94253	ACT		0.488	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		10	73	1	0	2.80697e-09	1	2.88495e-09	10	73					A	57736076	C	A	57736076	3	1	19	1	0	0	0	0	1	0	0	0	9992	565	20	5	46	5	MUDENG	14	57736076	Missense_Mutation	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08	20955229	57736076	49613464	37	1346										
TRIP11	9321	broad.mit.edu	37	chr14	92472717	92472717	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	ctttttttcatcatttagatCttgtttcagtttactgatga	5	6	4	3			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr14:92472717C>A	ENST00000267622.4	-	11	1976	c.1603G>T	c.(1603-1605)Gat>Tat	p.D535Y		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	535					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCATTTAGATCTTGTTTCAGT	0.303			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1603-1605)Gat>Tat		thyroid hormone receptor interactor 11							67	62	64					14																	92472717		2202	4292	6494	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92472717C>A	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1603G>T	14.37:g.92472717C>A	ENSP00000267622:p.Asp535Tyr		Somatic					p.D535Y	NM_004239.3	NP_004230.2	WXS	Illumina GAIIx	Phase_I	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	1976	-			535					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.1603G>T	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.68|18.68	3.676361|3.676361	0.67928|0.67928	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.05319|.	3.46|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.261889|.	0.43579|.	D|.	0.000548|.	T|T	0.74382|0.74382	0.3709|0.3709	M|M	0.72894|0.72894	2.215|2.215	0.40810|0.40810	D|D	0.983413|0.983413	P;D|.	0.55800|.	0.928;0.973|.	P;P|.	0.56434|.	0.788;0.798|.	T|T	0.73500|0.73500	-0.3963|-0.3963	10|5	0.87932|.	D|.	0|.	.|.	15.4899|15.4899	0.75597|0.75597	0.0:0.7489:0.2511:0.0|0.0:0.7489:0.2511:0.0	.|.	271;535|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	Y|I	535;271|250	ENSP00000267622:D535Y|.	ENSP00000267622:D535Y|.	D|R	-|-	1|2	0|0	TRIP11|TRIP11	91542470|91542470	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.889000|0.889000	0.51656|0.51656	3.049000|3.049000	0.49869|0.49869	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAT|AGA		0.303	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			5	25	1	0	1.23904e-05	1	1.25601e-05	5	25					A	92472717	C	A	92472717	3	1	19	1	0	0	0	0	1	0	0	0	16570	913	32	2	4380	2	TRIP11	14	92472717	Missense_Mutation	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08	34736641	92472717	14876823	38	1347										
NTRK3	4916	broad.mit.edu	37	chr15	88679256	88679256	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	gttgatggcatgaacattggTccagttcagattggtctgaa	12	6	2	4			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr15:88679256T>A	ENST00000360948.2	-	8	942	c.781A>T	c.(781-783)Acc>Tcc	p.T261S	NTRK3_ENST00000540489.2_Missense_Mutation_p.T261S|NTRK3_ENST00000317501.3_Missense_Mutation_p.T261S|NTRK3_ENST00000558676.1_Missense_Mutation_p.T261S|NTRK3_ENST00000542733.2_Missense_Mutation_p.T163S|NTRK3_ENST00000355254.2_Missense_Mutation_p.T261S|NTRK3_ENST00000557856.1_Missense_Mutation_p.T261S|NTRK3_ENST00000394480.2_Missense_Mutation_p.T261S|NTRK3_ENST00000357724.2_Missense_Mutation_p.T261S	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	261	Ig-like C2-type 1.				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)			TGAACATTGGTCCAGTTCAGA	0.458			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"neurotrophic tyrosine kinase, receptor, type 3"			"E, M"	ETV6		"congenital fibrosarcoma, Secretory breast "	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(781-783)Acc>Tcc		neurotrophic tyrosine kinase, receptor, type 3							204	149	167					15																	88679256		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.chr15:88679256T>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.781A>T	15.37:g.88679256T>A	ENSP00000354207:p.Thr261Ser	TSP Lung(13;0.10)	Somatic				NTRK3_ENST00000557856.1_Missense_Mutation_p.T261S|NTRK3_ENST00000542733.2_Missense_Mutation_p.T163S|NTRK3_ENST00000355254.2_Missense_Mutation_p.T261S|NTRK3_ENST00000540489.2_Missense_Mutation_p.T261S|NTRK3_ENST00000317501.3_Missense_Mutation_p.T261S|NTRK3_ENST00000357724.2_Missense_Mutation_p.T261S|NTRK3_ENST00000360948.2_Missense_Mutation_p.T261S|NTRK3_ENST00000558676.1_Missense_Mutation_p.T261S	p.T261S	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)		9	1102	-			261			Ig-like C2-type 1.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.781A>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.892132	0.33442	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.51	5.51	0.81932	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.161054	0.56097	D	0.000036	T	0.62780	0.2456	N	0.26042	0.785	0.28639	N	0.907259	B;B;B;P;P;B	0.48911	0.285;0.425;0.027;0.917;0.763;0.061	B;B;B;P;B;B	0.51657	0.185;0.252;0.038;0.676;0.163;0.038	T	0.57545	-0.7793	10	0.20046	T	0.44	.	14.4577	0.67428	0.0:0.0:0.0:1.0	.	163;261;261;261;261;261	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	S	261;261;261;261;163;261;261	ENSP00000377990:T261S;ENSP00000354207:T261S;ENSP00000350356:T261S;ENSP00000347397:T261S;ENSP00000437773:T163S;ENSP00000444673:T261S;ENSP00000318328:T261S	ENSP00000318328:T261S	T	-	1	0	NTRK3	86480260	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.950000	0.49081	2.093000	0.63338	0.460000	0.39030	ACC		0.458	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				6	62	0	0	0	1	0	6	62					A	88679256	T	A	88679256	3	1	19	1	0	0	0	0	1	0	0	0	10717	1667	58	4	2048	4	NTRK3	15	88679256	Missense_Mutation	SNP	T	TCGA-N6-A4VF-01A-31D-A28R-08		88679256	13852136	39	1348										
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	14	13	3	1			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	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	179	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 sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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"		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|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						c.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							47	47	47					17																	7578394		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.chr17:7578394T>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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	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.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	p.H179R	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	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		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 sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	41	0	0	0	1	0	22	41					C	7578394	T	C	7578394	3	2	19	1	0	0	0	0	1	0	0	0	16396	1464	51	4	762	4	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-N6-A4VF-01A-31D-A28R-08		7578394	73616816	40	1349										
AZI1	22994	broad.mit.edu	37	chr17	79193819	79193819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	ggtccacacctgctgggctgCgctccgggacgctgccgatg	15	15	0	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr17:79193819C>T	ENST00000269392.4	-	2	285	c.38G>A	c.(37-39)cGc>cAc	p.R13H	AZI1_ENST00000450824.2_Missense_Mutation_p.R13H|AZI1_ENST00000374782.3_Missense_Mutation_p.R13H|AZI1_ENST00000575907.1_Missense_Mutation_p.R13H	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		13					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGCTGGGCTGCGCTCCGGGAC	0.662																																						ENST00000269392.4																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(37-39)cGc>cAc		5-azacytidine induced 1							55	55	55					17																	79193819		2203	4300	6503	SO:0001583	missense	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79193819C>T																												ENST00000269392.4:c.38G>A	17.37:g.79193819C>T	ENSP00000269392:p.Arg13His		Somatic				AZI1_ENST00000450824.2_Missense_Mutation_p.R13H|AZI1_ENST00000374782.3_Missense_Mutation_p.R13H|AZI1_ENST00000575907.1_Missense_Mutation_p.R13H	p.R13H	NM_014984.2	NP_055799.2	WXS	Illumina GAIIx	Phase_I	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		2	285	-	all_neural(118;0.0804)|Melanoma(429;0.242)		13					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.38G>A		.	.	.	.	.	.	.	.	.	.	C	12.96	2.093207	0.36952	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.22134	1.97;1.97;1.97	4.01	1.84	0.25277	.	0.295484	0.30428	N	0.009651	T	0.10937	0.0267	N	0.22421	0.69	0.09310	N	1	P;P;P;P	0.43542	0.566;0.77;0.81;0.566	B;B;B;B	0.36289	0.121;0.169;0.221;0.172	T	0.17167	-1.0378	10	0.72032	D	0.01	-9.9433	6.3592	0.21419	0.184:0.7096:0.0:0.1063	.	13;13;13;13	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	H	13	ENSP00000393583:R13H;ENSP00000363914:R13H;ENSP00000269392:R13H	ENSP00000269392:R13H	R	-	2	0	AZI1	76808414	0.149000	0.22717	0.008000	0.14137	0.004000	0.04260	1.170000	0.31883	0.739000	0.32628	0.462000	0.41574	CGC		0.662	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			5	93	0	0	0	1	0	5	93					T	79193819	C	T	79193819	3	4	19	1	0	0	0	0	1	0	0	0	1240	768	27	1	3304	1	AZI1	17	79193819	Missense_Mutation	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08	71615425	79193819	2001391	41	1350										
EPB41L3	23136	broad.mit.edu	37	chr18	5428407	5428407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	gtttattcgcagccggtcgcGatatatcaacagaccacttg	9	11	1	1			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr18:5428407G>A	ENST00000341928.2	-	9	1310	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	EPB41L3_ENST00000342933.3_Missense_Mutation_p.R324C|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R324C|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R324C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R324C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	324	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGCCGGTCGCGATATATCAAC	0.413																																						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.(970-972)Cgc>Tgc		erythrocyte membrane protein band 4.1-like 3							138	143	142					18																	5428407		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.chr18:5428407G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.970C>T	18.37:g.5428407G>A	ENSP00000343158:p.Arg324Cys		Somatic				EPB41L3_ENST00000540638.2_Missense_Mutation_p.R324C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R324C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R324C|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R324C	p.R324C	NM_012307.2	NP_036439.2	WXS	Illumina GAIIx	Phase_I	Q9Y2J2	E41L3_HUMAN			9	1310	-			324			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.970C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629742	0.87660	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.31	5.31	0.75309	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.91479	0.7310	M	0.78344	2.41	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.968;1.0;1.0;0.949	D;B;D;D;P	0.85130	0.992;0.204;0.997;0.935;0.772	D	0.92368	0.5903	10	0.87932	D	0	.	18.973	0.92722	0.0:0.0:1.0:0.0	.	324;324;215;324;324	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	C	324;215;324;215;324;324	ENSP00000343158:R324C;ENSP00000441174:R324C;ENSP00000341138:R324C;ENSP00000382981:R324C	ENSP00000343158:R324C	R	-	1	0	EPB41L3	5418407	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.368000	0.59505	2.455000	0.83008	0.655000	0.94253	CGC		0.413	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		38	89	0	0	0	1	0	38	89					A	5428407	G	A	5428407	3	1	19	1	0	0	0	0	1	0	0	0	5156	1058	37	1	2349	1	EPB41L3	18	5428407	Missense_Mutation	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08		5428407	72648841	42	1351										
ASXL3	80816	broad.mit.edu	37	chr18	31324283	31324283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	gtttgtctctgactgtctccGttgaaagctcagaagccagc	10	11	3	3			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr18:31324283G>A	ENST00000269197.5	+	12	4471	c.4471G>A	c.(4471-4473)Gtt>Att	p.V1491I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GACTGTCTCCGTTGAAAGCTC	0.557											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(4471-4473)Gtt>Att		additional sex combs like 3 (Drosophila)							44	47	46					18																	31324283		2202	4300	6502	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324283G>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4471G>A	18.37:g.31324283G>A	ENSP00000269197:p.Val1491Ile		Somatic	OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823		p.V1491I	NM_030632.1	NP_085135.1	WXS	Illumina GAIIx	Phase_I	Q9C0F0	ASXL3_HUMAN			12	4471	+			1491					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.4471G>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	0.317	-0.964371	0.02249	.	.	ENSG00000141431	ENST00000269197	T	0.13196	2.61	6.16	-4.93	0.03066	.	.	.	.	.	T	0.02767	0.0083	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41179	-0.9523	9	0.02654	T	1	.	3.8877	0.09105	0.4057:0.1138:0.378:0.1024	.	1491	Q9C0F0	ASXL3_HUMAN	I	1491	ENSP00000269197:V1491I	ENSP00000269197:V1491I	V	+	1	0	ASXL3	29578281	0.343000	0.24818	0.166000	0.22797	0.814000	0.46013	0.109000	0.15417	-0.603000	0.05767	-0.312000	0.09012	GTT		0.557	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			24	53	0	0	0	1	0	24	53					A	31324283	G	A	31324283	3	1	19	1	0	0	0	0	1	0	0	0	1068	1145	40	1	4517	1	ASXL3	18	31324283	Missense_Mutation	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08	25895876	31324283	46752965	43	1352										
SALL3	27164	broad.mit.edu	37	chr18	76754280	76754280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	cacatccgcatgcacatgggCggccagatccccaacacgcc	9	18	0	1			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr18:76754280C>T	ENST00000537592.2	+	2	2289	c.2289C>T	c.(2287-2289)ggC>ggT	p.G763G	SALL3_ENST00000536229.3_Silent_p.G630G|SALL3_ENST00000575389.2_Silent_p.G763G	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	763					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGCACATGGGCGGCCAGATCC	0.652																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1888-1890)ggC>ggT		spalt-like transcription factor 3							71	63	66					18																	76754280		2203	4300	6503	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754280C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2289C>T	18.37:g.76754280C>T			Somatic				SALL3_ENST00000537592.2_Silent_p.G763G|SALL3_ENST00000575389.2_Silent_p.G763G	p.G630G			WXS	Illumina GAIIx	Phase_I	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2599	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	763					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.1890C>T	CCDS12013.1																																																																																				0.652	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		24	40	0	0	0	1	0	24	40					T	76754280	C	T	76754280	2	4	19	1	0	0	0	0	0	0	0	1	13827	755	27	1		1	SALL3	18	76754280	Silent	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08	45429997	76754280	1322968	44	1353										
ILF3	3609	broad.mit.edu	37	chr19	10781723	10781723	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	ttccgtttatccaacacaagAggagctggaggcagtccaga	11	10	0	2			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr19:10781723A>T	ENST00000590261.1	+	2	77	c.77A>T	c.(76-78)gAg>gTg	p.E26V	ILF3_ENST00000420083.1_Missense_Mutation_p.E26V|ILF3_ENST00000589998.1_Missense_Mutation_p.E26V|ILF3_ENST00000407004.3_Missense_Mutation_p.E26V|ILF3_ENST00000250241.8_Missense_Mutation_p.E26V|ILF3_ENST00000592763.1_Missense_Mutation_p.E26V|ILF3_ENST00000588657.1_Missense_Mutation_p.E26V|ILF3_ENST00000318511.3_Missense_Mutation_p.E26V|ILF3_ENST00000449870.1_Missense_Mutation_p.E26V			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	26	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				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)			CCAACACAAGAGGAGCTGGAG	0.502																																						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.(76-78)gAg>gTg		interleukin enhancer binding factor 3, 90kDa							63	58	60					19																	10781723		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.chr19:10781723A>T	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.77A>T	19.37:g.10781723A>T	ENSP00000468156:p.Glu26Val		Somatic				ILF3_ENST00000420083.1_Missense_Mutation_p.E26V|ILF3_ENST00000318511.3_Missense_Mutation_p.E26V|ILF3_ENST00000407004.3_Missense_Mutation_p.E26V|ILF3_ENST00000592763.1_Missense_Mutation_p.E26V|ILF3_ENST00000589998.1_Missense_Mutation_p.E26V|ILF3_ENST00000250241.8_Missense_Mutation_p.E26V|ILF3_ENST00000590261.1_Missense_Mutation_p.E26V|ILF3_ENST00000588657.1_Missense_Mutation_p.E26V	p.E26V	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)		3	394	+			26					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.77A>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535290	0.85812	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.62024	0.2394	M	0.88310	2.945	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.984;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.991;0.943;0.998;0.996	T	0.69785	-0.5051	10	0.87932	D	0	.	14.7373	0.69424	1.0:0.0:0.0:0.0	rs35769828	26;26;26;26;26	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	V	26	ENSP00000404121:E26V;ENSP00000315205:E26V;ENSP00000405436:E26V;ENSP00000384660:E26V;ENSP00000250241:E26V	ENSP00000250241:E26V	E	+	2	0	ILF3	10642723	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.899000	0.75682	2.371000	0.80710	0.533000	0.62120	GAG		0.502	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			7	22	0	0	0	1	0	7	22					T	10781723	A	T	10781723	3	4	19	1	0	0	0	0	1	0	0	0	7721	304	11	4	83	4	ILF3	19	10781723	Missense_Mutation	SNP	A	TCGA-N6-A4VF-01A-31D-A28R-08		10781723	48347260	45	1354										
DMWD	1762	broad.mit.edu	37	chr19	46289096	46289098	+	In_Frame_Del	DEL	CCA	CCA	-													0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	cactgccactgccgccactgCcaccccggctgatgttgccc							TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr19:46289096_46289098delCCA	ENST00000270223.6	-	3	1701_1703	c.1656_1658delTGG	c.(1654-1659)ggtggc>ggc	p.552_553GG>G	DMWD_ENST00000601370.1_5'Flank|DMWD_ENST00000377735.3_In_Frame_Del_p.552_553GG>G|AC011530.4_ENST00000593999.1_In_Frame_Del_p.V45del	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	552										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GCCGCCACTGCCACCCCGGCTGA	0.719																																						ENST00000270223.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1654-1659)ggc>gg		dystrophia myotonica, WD repeat containing																																				SO:0001651	inframe_deletion	1762				meiosis			g.chr19:46289096_46289098delCCA	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"WD repeat domain containing"	2936	protein-coding gene	gene with protein product		609857	"dystrophia myotonica-containing WD repeat motif"			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1656_1658delTGG	19.37:g.46289096_46289098delCCA	ENSP00000270223:p.Gly553del		Somatic				AC011530.4_ENST00000593999.1_In_Frame_Del_p.VA47del|DMWD_ENST00000377735.3_In_Frame_Del_p.GG552del	p.GG552del	NM_004943.1	NP_004934.1	WXS	Illumina GAIIx	Phase_I	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	1701_1703	-		Ovarian(192;0.0308)|all_neural(266;0.112)	552						In_Frame_Del	DEL	ENST00000270223.6	37	c.1656_1658delTGG	CCDS33054.1																																																																																				0.719	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		28	37						28	37	---	---	---	---	-	46289098	CCA	-	46289096	7	5	19	1	0	1	0	1	0	0	0	0	4595	739	26	0	378	0	DMWD	19	46289096	In_Frame_Del	DEL	CCA	TCGA-N6-A4VF-01A-31D-A28R-08	35507373	46289096	12839887	46	1355										
FTL	2512	broad.mit.edu	37	chr19	49469955	49469955	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	cccggaggctgggctgggcgAgtatctcttcgaaaggctca	15	11	2	0	rs368634782		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr19:49469955A>C	ENST00000331825.6	+	4	698	c.491A>C	c.(490-492)gAg>gCg	p.E164A	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	164					cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)			cervix(1)|kidney(3)|lung(5)	9		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;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	GGGCTGGGCGAGTATCTCTTC	0.552																																						ENST00000331825.6																			0				cervix(1)|kidney(3)|lung(5)	9						c.(490-492)gAg>gCg		ferritin, light polypeptide	Iron Dextran(DB00893)						70	75	73					19																	49469955		2203	4300	6503	SO:0001583	missense	2512				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity	g.chr19:49469955A>C	AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"ferritin light polypeptide-like 3", "L apoferritin", "ferritin L subunit", "ferritin light chain", "ferritin L-chain", "neurodegeneration with brain iron accumulation 3"	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.491A>C	19.37:g.49469955A>C	ENSP00000366525:p.Glu164Ala		Somatic					p.E164A	NM_000146.3	NP_000137.2	WXS	Illumina GAIIx	Phase_I	P02792	FRIL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	4	698	+		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)	164					B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Missense_Mutation	SNP	ENST00000331825.6	37	c.491A>C	CCDS33070.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.734137	0.89482	.	.	ENSG00000087086	ENST00000331825;ENST00000397259	T	0.70631	-0.5	4.46	4.46	0.54185	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);	0.000000	0.85682	D	0.000000	T	0.82139	0.4972	M	0.92412	3.305	0.41406	D	0.987702	P	0.50710	0.938	P	0.51415	0.669	D	0.86819	0.2003	10	0.87932	D	0	.	12.021	0.53344	1.0:0.0:0.0:0.0	.	164	P02792	FRIL_HUMAN	A	164	ENSP00000366525:E164A	ENSP00000366525:E164A	E	+	2	0	FTL	54161767	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.431000	0.90285	2.011000	0.59026	0.460000	0.39030	GAG		0.552	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466233.1	NM_000146		9	83	0	0	0	1	0	9	83					C	49469955	A	C	49469955	3	2	19	1	0	0	0	0	1	0	0	0	6092	304	11	4	505	4	FTL	19	49469955	Missense_Mutation	SNP	A	TCGA-N6-A4VF-01A-31D-A28R-08	3180859	49469955	9659028	47	1356										
LRRN4	164312	broad.mit.edu	37	chr20	6022239	6022239	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	gggtctgcaggtgcttgcagGgatggtaatcacaggggacg	18	7	2	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:6022239G>A	ENST00000378858.4	-	5	1876	c.1652C>T	c.(1651-1653)cCc>cTc	p.P551L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	551					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						GTGCTTGCAGGGATGGTAATC	0.662																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(1651-1653)cCc>cTc		leucine rich repeat neuronal 4							103	112	109					20																	6022239		2203	4300	6503	SO:0001583	missense	164312					integral to membrane		g.chr20:6022239G>A	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.1652C>T	20.37:g.6022239G>A	ENSP00000368135:p.Pro551Leu		Somatic					p.P551L	NM_152611.4	NP_689824.2	WXS	Illumina GAIIx	Phase_I	Q8WUT4	LRRN4_HUMAN			5	1876	-			551					A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.1652C>T	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900677	0.72754	.	.	ENSG00000125872	ENST00000378858	T	0.60171	0.21	5.01	5.01	0.66863	.	0.140050	0.48286	D	0.000192	T	0.66076	0.2753	M	0.79475	2.455	0.80722	D	1	P	0.49253	0.921	P	0.45406	0.479	T	0.74203	-0.3741	10	0.87932	D	0	-27.8962	18.3264	0.90255	0.0:0.0:1.0:0.0	.	551	Q8WUT4	LRRN4_HUMAN	L	551	ENSP00000368135:P551L	ENSP00000368135:P551L	P	-	2	0	LRRN4	5970239	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	4.767000	0.62286	2.319000	0.78375	0.561000	0.74099	CCC		0.662	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		46	136	0	0	0	1	0	46	136					A	6022239	G	A	6022239	3	1	19	1	0	0	0	0	1	0	0	0	9046	1232	43	3	574	3	LRRN4	20	6022239	Missense_Mutation	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08		6022239	57003281	48	1357										
HM13	81502	broad.mit.edu	37	chr20	30155955	30155955	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	cacagtctcgggctccccagCcagcctggccgactccatgc	10	19	1	0			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:30155955C>G	ENST00000340852.5	+	12	1158				HM13_ENST00000398174.3_Missense_Mutation_p.A370G|HM13-AS1_ENST00000412178.1_RNA|HM13_ENST00000335574.5_Missense_Mutation_p.A370G|HM13_ENST00000376127.3_Intron|HM13_ENST00000492709.1_Intron	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13						membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GGCTCCCCAGCCAGCCTGGCC	0.662																																						ENST00000335574.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1108-1110)gCc>gGc		histocompatibility (minor) 13							28	27	27					20																	30155955		2201	4299	6500	SO:0001627	intron_variant	81502				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding	g.chr20:30155955C>G	AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"signal peptide peptidase beta", "presenilin-like protein 3", "intramembrane protease", "signal peptide peptidase like 1"	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.1035-968C>G	20.37:g.30155955C>G			Somatic				HM13_ENST00000398174.3_Missense_Mutation_p.A370G|HM13_ENST00000492709.1_Intron|HM13_ENST00000340852.5_Intron|HM13_ENST00000376127.3_Intron|HM13-AS1_ENST00000412178.1_RNA	p.A370G	NM_178580.1	NP_848695.1	WXS	Illumina GAIIx	Phase_I	Q8TCT9	HM13_HUMAN	all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		12	1233	+	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		366					B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Missense_Mutation	SNP	ENST00000340852.5	37	c.1109C>G	CCDS13182.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492251	0.84962	.	.	ENSG00000101294	ENST00000335574;ENST00000398174	T;T	0.25912	1.77;1.86	5.35	5.35	0.76521	.	0.060860	0.64402	D	0.000004	T	0.35128	0.0921	.	.	.	0.80722	D	1	D;B	0.63880	0.993;0.43	P;B	0.52386	0.697;0.2	T	0.01087	-1.1456	9	0.26408	T	0.33	-48.8131	15.9216	0.79580	0.0:1.0:0.0:0.0	.	370;370	Q8TCT9-4;Q8TCT9-2	.;.	G	370	ENSP00000335294:A370G;ENSP00000381237:A370G	ENSP00000335294:A370G	A	+	2	0	HM13	29619616	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.932000	0.75869	2.784000	0.95788	0.549000	0.68633	GCC		0.662	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078527.2	NM_178580		4	37	0	0	0	1	0	4	37					G	30155955	C	G	30155955	1	3	19	0	1	0	0	0	0	0	0	0	7226	739	26	5		5	HM13	20	30155955	Intron	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08	24133716	30155955	32869565	49	1358										
MYH7B	57644	broad.mit.edu	37	chr20	33572744	33572744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	tgaggaatgataactcctccCgctttgtgagtggctgaggt	13	8	0	4			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:33572744C>T	ENST00000262873.7	+	10	954	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	246	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TAACTCCTCCCGCTTTGTGAG	0.652																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(862-864)Cgc>Tgc		myosin, heavy chain 7B, cardiac muscle, beta							61	68	65					20																	33572744		2197	4296	6493	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33572744C>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.862C>T	20.37:g.33572744C>T	ENSP00000262873:p.Arg288Cys		Somatic					p.R288C	NM_020884.3	NP_065935.2	WXS	Illumina GAIIx	Phase_I	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		10	954	+			246			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.862C>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980559	0.74474	.	.	ENSG00000078814	ENST00000262873	D	0.84660	-1.88	4.64	4.64	0.57946	Myosin head, motor domain (3);	0.000000	0.36444	N	0.002599	D	0.93979	0.8072	H	0.99981	5.195	0.80722	D	1	P	0.35656	0.514	B	0.37601	0.254	D	0.95814	0.8844	10	0.87932	D	0	.	18.049	0.89342	0.0:1.0:0.0:0.0	.	246	A7E2Y1	MYH7B_HUMAN	C	288	ENSP00000262873:R288C	ENSP00000262873:R288C	R	+	1	0	MYH7B	33036405	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	4.676000	0.61627	2.544000	0.85801	0.655000	0.94253	CGC		0.652	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		31	65	0	0	0	1	0	31	65					T	33572744	C	T	33572744	3	4	19	1	0	0	0	0	1	0	0	0	10049	652	23	1	900	1	MYH7B	20	33572744	Missense_Mutation	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08	3416789	33572744	29452776	50	1359										
OPHN1	4983	broad.mit.edu	37	chrX	67433758	67433758	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	acttcctggatttgataaacAtaatcaagagaggactcgaa	8	7	1	2			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chrX:67433758A>C	ENST00000355520.5	-	7	1184	c.543T>G	c.(541-543)taT>taG	p.Y181*	OPHN1_ENST00000540071.1_Nonsense_Mutation_p.Y181*	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	181					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TTTGATAAACATAATCAAGAG	0.363																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(541-543)taT>taG		oligophrenin 1							78	65	70					X																	67433758		2203	4300	6503	SO:0001587	stop_gained	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67433758A>C	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"Rho GTPase activating proteins"	8148	protein-coding gene	gene with protein product		300127	"mental retardation, X-linked 60"	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.543T>G	X.37:g.67433758A>C	ENSP00000347710:p.Tyr181*		Somatic				OPHN1_ENST00000540071.1_Nonsense_Mutation_p.Y181*	p.Y181*	NM_002547.2	NP_002538.1	WXS	Illumina GAIIx	Phase_I	O60890	OPHN1_HUMAN			7	1184	-			181					B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Nonsense_Mutation	SNP	ENST00000355520.5	37	c.543T>G	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	A	42	9.556241	0.99204	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	.	.	.	4.39	3.22	0.36961	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2622	0.26209	0.8909:0.0:0.1091:0.0	.	.	.	.	X	181	.	ENSP00000347710:Y181X	Y	-	3	2	OPHN1	67350483	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.051000	0.49885	0.652000	0.30806	0.339000	0.21740	TAT		0.363	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		3	5	0	0	0	1	0	3	5					C	67433758	A	C	67433758	4	2	19	1	0	0	0	0	0	1	0	0	10884	224	8	4	1937	4	OPHN1	23	67433758	Nonsense_Mutation	SNP	A	TCGA-N6-A4VF-01A-31D-A28R-08		67433758	87836802	51	1360										
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-													0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc					rs369450592		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del		Somatic				NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	WXS	Illumina GAIIx	Phase_I	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		8	45						8	45	---	---	---	---	-	72433666	TCC	-	72433664	7	5	19	1	0	1	0	1	0	0	0	0	10166	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-N6-A4VF-01A-31D-A28R-08	4999906	72433664	82836896	52	1361										
ESX1	80712	broad.mit.edu	37	chrX	103498922	103498922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	tgaacgcggtgcggcggcggCgtttcctctctgggggctgt	18	11	1	1			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chrX:103498922C>T	ENST00000372588.4	-	2	502	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	140					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCGGCGGCGGCGTTTCCTCTC	0.632																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(418-420)cGc>cAc		ESX homeobox 1							34	34	34					X																	103498922		2203	4299	6502	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103498922C>T	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.419G>A	X.37:g.103498922C>T	ENSP00000361669:p.Arg140His		Somatic					p.R140H	NM_153448.3	NP_703149.1	WXS	Illumina GAIIx	Phase_I	Q8N693	ESX1_HUMAN			2	502	-			140					B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.419G>A	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	c	19.71	3.878730	0.72294	.	.	ENSG00000123576	ENST00000372588	D	0.97303	-4.33	4.48	2.67	0.31697	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	.	.	.	.	D	0.97813	0.9282	M	0.81112	2.525	0.33135	D	0.543584	D	0.89917	1.0	D	0.72338	0.977	D	0.97106	0.9801	9	0.87932	D	0	1.0992	7.0122	0.24869	0.0:0.724:0.1734:0.1026	.	140	Q8N693	ESX1_HUMAN	H	140	ENSP00000361669:R140H	ENSP00000361669:R140H	R	-	2	0	ESX1	103385578	1.000000	0.71417	0.828000	0.32881	0.104000	0.19210	2.448000	0.44926	0.599000	0.29845	0.534000	0.68092	CGC		0.632	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		21	75	0	0	0	1	0	21	75					T	103498922	C	T	103498922	3	4	19	1	0	0	0	0	1	0	0	0	5265	768	27	1	813	1	ESX1	23	103498922	Missense_Mutation	SNP	C	TCGA-N6-A4VF-01A-31D-A28R-08	31065258	103498922	51771638	53	1362										
GRIA3	2892	broad.mit.edu	37	chrX	122599593	122599593	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0555555555555556	3	1	0.689279224712296	0	0.790643816581751	0.142857142857143	0.605042016806723	0	ggacaaattgaaaaacaaatGgtggtacgacaaaggagagt	12	4	0	2			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chrX:122599593G>A	ENST00000371251.1	+	14	2445	c.2393G>A	c.(2392-2394)tGg>tAg	p.W798*	AL356213.1_ENST00000577653.1_RNA|GRIA3_ENST00000371256.5_Intron|GRIA3_ENST00000264357.5_Nonsense_Mutation_p.W798*|GRIA3_ENST00000542149.1_Nonsense_Mutation_p.W798*			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	798					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)	AAAAACAAATGGTGGTACGAC	0.458																																						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.(2392-2394)tGg>tAg		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						91	79	83					X																	122599593		2203	4300	6503	SO:0001587	stop_gained	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:122599593G>A	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.2393G>A	X.37:g.122599593G>A	ENSP00000360297:p.Trp798*		Somatic				GRIA3_ENST00000371251.1_Nonsense_Mutation_p.W798*|GRIA3_ENST00000371256.5_Intron|GRIA3_ENST00000542149.1_Nonsense_Mutation_p.W798*	p.W798*	NM_000828.4	NP_000819.3	WXS	Illumina GAIIx	Phase_I	P42263	GRIA3_HUMAN			14	2685	+			798					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Nonsense_Mutation	SNP	ENST00000371251.1	37	c.2393G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	40	7.958896	0.98583	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371251	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8434	0.88721	0.0:0.0:1.0:0.0	.	.	.	.	X	798	.	ENSP00000264357:W798X	W	+	2	0	GRIA3	122427274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.433000	0.82419	0.594000	0.82650	TGG		0.458	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		16	36	0	0	0	1	0	16	36					A	122599593	G	A	122599593	4	1	19	1	0	0	0	0	0	1	0	0	6778	1357	47	3	2447	3	GRIA3	23	122599593	Nonsense_Mutation	SNP	G	TCGA-N6-A4VF-01A-31D-A28R-08	19100671	122599593	32670967	54	1363										
CDK11A	728642	broad.mit.edu	37	chr1	1650881	1650881	+	Missense_Mutation	SNP	C	C	G													0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	tggtttgatggccaaagaatCatcttcttctcctctgaaat							TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:1650881C>G	ENST00000378633.1	-	4	320	c.241G>C	c.(241-243)Gat>Cat	p.D81H	CDK11A_ENST00000404249.3_Missense_Mutation_p.D81H|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_Missense_Mutation_p.D47H|CDK11A_ENST00000356200.3_Missense_Mutation_p.D47H|CDK11A_ENST00000358779.5_Missense_Mutation_p.D81H|CDK11A_ENST00000378635.3_Missense_Mutation_p.D81H|CDK11A_ENST00000357760.2_Missense_Mutation_p.D81H			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	81	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						GCCAAAGAATCATCTTCTTCT	0.393																																					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.(139-141)Gat>Cat		cyclin-dependent kinase 11A							254	240	244					1																	1650881		1909	4124	6033	SO:0001583	missense	728642							g.chr1:1650881C>G	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.241G>C	1.37:g.1650881C>G	ENSP00000367900:p.Asp81His		Somatic				CDK11A_ENST00000358779.5_Missense_Mutation_p.D81H|CDK11A_ENST00000357760.2_Missense_Mutation_p.D81H|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378633.1_Missense_Mutation_p.D81H|CDK11A_ENST00000378638.2_Missense_Mutation_p.D47H|CDK11A_ENST00000404249.3_Missense_Mutation_p.D81H|CDK11A_ENST00000378635.3_Missense_Mutation_p.D81H	p.D47H			WXS	Illumina GAIIx	Phase_I					3	373	-								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.139G>C		.	.	.	.	.	.	.	.	.	.	-	17.88	3.496588	0.64186	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630;ENST00000378635;ENST00000479362	T;T;T;T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85;2.85;2.85;2.85	5.3	5.3	0.74995	.	0.309943	0.28933	U	0.013677	T	0.22589	0.0545	L	0.27053	0.805	0.58432	D	0.99999	D;D;D;D;D;P;D;D;D;D;D	0.89917	0.997;0.996;1.0;0.997;1.0;0.852;1.0;1.0;0.999;0.989;0.998	D;P;D;D;D;P;D;D;D;D;D	0.91635	0.974;0.804;0.987;0.974;0.999;0.606;0.997;0.988;0.979;0.912;0.978	T	0.01909	-1.1249	10	0.40728	T	0.16	.	17.9833	0.89148	0.0:1.0:0.0:0.0	.	81;81;81;81;81;81;47;81;81;47;81	B4E0M9;B4E0N4;E7ESP2;Q5QPR3;Q9UQ88-2;Q9UQ88-4;Q5QPR4;P21127-3;Q9UQ88;P21127-6;P21127-2	.;.;.;.;.;.;.;.;CD11A_HUMAN;.;.	H	47;81;81;81;81;47;47;81;81	ENSP00000348529:D47H;ENSP00000384442:D81H;ENSP00000350403:D81H;ENSP00000351629:D81H;ENSP00000367900:D81H;ENSP00000367905:D47H;ENSP00000367902:D81H;ENSP00000423900:D81H	ENSP00000348529:D47H	D	-	1	0	CDK11A	1640741	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.961000	0.76042	2.462000	0.83206	0.655000	0.94253	GAT		0.393	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		35	183	0	0	0	1	0	35	183					G	1650881	C	G	1650881	3	3	20	1	0	0	0	0	1	0	0	0	3128	826	29	2	2169	2	CDK11A	1	1650881	Missense_Mutation	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08		1650881	247599740	1	1364	7	2								
CDK11A	728642	broad.mit.edu	37	chr1	1650883	1650883	+	Missense_Mutation	SNP	T	T	C													0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	gtttgatggccaaagaatcaTcttcttctcctctgaaataa							TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:1650883T>C	ENST00000378633.1	-	4	318	c.239A>G	c.(238-240)gAt>gGt	p.D80G	CDK11A_ENST00000404249.3_Missense_Mutation_p.D80G|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_Missense_Mutation_p.D46G|CDK11A_ENST00000356200.3_Missense_Mutation_p.D46G|CDK11A_ENST00000358779.5_Missense_Mutation_p.D80G|CDK11A_ENST00000378635.3_Missense_Mutation_p.D80G|CDK11A_ENST00000357760.2_Missense_Mutation_p.D80G			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	80	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						CAAAGAATCATCTTCTTCTCC	0.388																																					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.(136-138)gAt>gGt		cyclin-dependent kinase 11A							251	238	242					1																	1650883		1908	4122	6030	SO:0001583	missense	728642							g.chr1:1650883T>C	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.239A>G	1.37:g.1650883T>C	ENSP00000367900:p.Asp80Gly		Somatic				CDK11A_ENST00000358779.5_Missense_Mutation_p.D80G|CDK11A_ENST00000357760.2_Missense_Mutation_p.D80G|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378633.1_Missense_Mutation_p.D80G|CDK11A_ENST00000378638.2_Missense_Mutation_p.D46G|CDK11A_ENST00000404249.3_Missense_Mutation_p.D80G|CDK11A_ENST00000378635.3_Missense_Mutation_p.D80G	p.D46G			WXS	Illumina GAIIx	Phase_I					3	371	-								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.137A>G		.	.	.	.	.	.	.	.	.	.	-	18.63	3.665915	0.67700	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630;ENST00000378635;ENST00000479362	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	5.3	5.3	0.74995	.	0.141573	0.45361	U	0.000378	T	0.27349	0.0671	L	0.36672	1.1	0.53005	D	0.99996	B;D;P;P;D;P;D;D;D;D;D	0.71674	0.072;0.958;0.603;0.92;0.997;0.59;0.987;0.992;0.995;0.998;0.995	B;P;B;P;D;B;P;D;D;D;D	0.70487	0.056;0.549;0.399;0.623;0.915;0.308;0.809;0.959;0.942;0.969;0.943	T	0.01356	-1.1376	10	0.62326	D	0.03	.	14.4664	0.67488	0.0:0.0:0.0:1.0	.	80;80;80;80;80;80;46;80;80;46;80	B4E0M9;B4E0N4;E7ESP2;Q5QPR3;Q9UQ88-2;Q9UQ88-4;Q5QPR4;P21127-3;Q9UQ88;P21127-6;P21127-2	.;.;.;.;.;.;.;.;CD11A_HUMAN;.;.	G	46;80;80;80;80;46;46;80;80	ENSP00000348529:D46G;ENSP00000384442:D80G;ENSP00000350403:D80G;ENSP00000351629:D80G;ENSP00000367900:D80G;ENSP00000367905:D46G;ENSP00000367902:D80G;ENSP00000423900:D80G	ENSP00000348529:D46G	D	-	2	0	CDK11A	1640743	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.157000	0.77461	1.995000	0.58328	0.533000	0.62120	GAT		0.388	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		35	185	0	0	0	1	0	35	185					C	1650883	T	C	1650883	3	2	20	1	0	0	0	0	1	0	0	0	3128	1435	50	4	2171	4	CDK11A	1	1650883	Missense_Mutation	SNP	T	TCGA-N6-A4VG-01A-31D-A28R-08	2	1650883	247599738	2	1365	7	2								
CSMD2	114784	broad.mit.edu	37	chr1	34192255	34192255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	cccggagagaggatggtgccGctgggcgaagtcaggtgacc	18	10	1	2	rs145279639		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:34192255G>A	ENST00000373381.4	-	16	2576	c.2400C>T	c.(2398-2400)agC>agT	p.S800S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	760	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGATGGTGCCGCTGGGCGAAG	0.562																																						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.(2398-2400)agC>agT		CUB and Sushi multiple domains 2		G		4,4402	8.1+/-20.4	1,2,2200	35	39	38		2280	-7.7	0.5	1	dbSNP_134	38	0,8600		0,0,4300	yes	coding-synonymous	CSMD2	NM_052896.3		1,2,6500	AA,AG,GG		0.0,0.0908,0.0308		760/3488	34192255	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34192255G>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.2400C>T	1.37:g.34192255G>A			Somatic					p.S800S	NM_052896.3	NP_443128.2	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			16	2576	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	760			CUB 5.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.2400C>T																																																																																					0.562	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		24	26	0	0	0	1	0	24	26					A	34192255	G	A	34192255	2	1	20	1	0	0	0	0	0	0	0	1	3947	1078	38	1		1	CSMD2	1	34192255	Silent	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	32541372	34192255	215058366	3	1366										
HBXIP	10542	broad.mit.edu	37	chr1	110950343	110950343	+	5'Flank	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	agcggggcgtggaccgtaacGgcgcctccaaagggacaaaa	15	11	0	0			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:110950343G>T	ENST00000602318.1	-	0	0				LAMTOR5-AS1_ENST00000598454.1_RNA|LAMTOR5-AS1_ENST00000609244.1_RNA|LAMTOR5_ENST00000256644.4_Missense_Mutation_p.P49Q|LAMTOR5_ENST00000474861.2_5'Flank|LAMTOR5-AS1_ENST00000608486.1_RNA|LAMTOR5-AS1_ENST00000608602.1_RNA|LAMTOR5_ENST00000483260.1_5'Flank|LAMTOR5-AS1_ENST00000587691.1_RNA|LAMTOR5-AS1_ENST00000609709.1_RNA|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000609512.1_RNA|LAMTOR5-AS1_ENST00000610148.1_RNA|LAMTOR5-AS1_ENST00000608499.1_RNA|LAMTOR5-AS1_ENST00000608067.1_RNA|LAMTOR5-AS1_ENST00000590826.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000608253.1_RNA|LAMTOR5_ENST00000602858.1_5'Flank			O43504	LTOR5_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5						cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079)	cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											GGACCGTAACGGCGCCTCCAA	0.617																																						ENST00000256644.4																			0											c.(145-147)cCg>cAg		late endosomal/lysosomal adaptor, MAPK and MTOR activator 5							88	75	79					1																	110950343		2203	4300	6503	SO:0001631	upstream_gene_variant	10542							g.chr1:110950343G>T	AF029890	CCDS824.1	1p12	2012-09-24	2012-09-24	2012-09-24	ENSG00000134248	ENSG00000134248			17955	protein-coding gene	gene with protein product	"HBx-interacting protein", "hepatitis B virus x-interacting protein (9.6kD)"	608521	"hepatitis B virus x interacting protein"	HBXIP		9499022, 22980980	Standard	NM_006402		Approved	XIP, MGC71071	uc001dzr.3	O43504	OTTHUMG00000011568		1.37:g.110950343G>T	Exception_encountered		Somatic				LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA	p.P49Q	NM_006402.2	NP_006393.2	WXS	Illumina GAIIx	Phase_I					1	221	-								Q6IBD8	Missense_Mutation	SNP	ENST00000602318.1	37	c.146C>A		.	.	.	.	.	.	.	.	.	.	G	16.76	3.211421	0.58343	.	.	ENSG00000134248	ENST00000256644	.	.	.	4.34	4.34	0.51931	.	0.000000	0.38778	N	0.001572	T	0.52500	0.1738	.	.	.	0.36675	D	0.878702	.	.	.	.	.	.	T	0.51521	-0.8695	5	.	.	.	-19.1094	12.6496	0.56753	0.0:0.0:1.0:0.0	.	.	.	.	Q	49	.	.	P	-	2	0	HBXIP	110751866	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	3.963000	0.56773	2.700000	0.92200	0.563000	0.77884	CCG		0.617	LAMTOR5-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467909.1	NM_006402		11	48	1	0	0.000673444	1	0.000711927	11	48					T	110950343	G	T	110950343	1	4	20	0	1	0	0	0	0	0	0	0	6997	1116	39	5		5	HBXIP	1	110950343	5'Flank	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	76758088	110950343	138300278	4	1367										
ZBTB7B	51043	broad.mit.edu	37	chr1	154987459	154987459	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	cctccttgaatttgcctataCagccacactgaccaccagca	5	16	0	2			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:154987459C>A	ENST00000368426.3	+	3	460	c.323C>A	c.(322-324)aCa>aAa	p.T108K	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.T108K|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.T142K|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.T108K	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	108	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTTGCCTATACAGCCACACTG	0.632																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(322-324)aCa>aAa		zinc finger and BTB domain containing 7B							26	30	28					1																	154987459		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.chr1:154987459C>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.323C>A	1.37:g.154987459C>A	ENSP00000357411:p.Thr108Lys		Somatic				ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.T142K|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.T108K|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.T108K	p.T108K	NM_001256455.1	NP_001243384.1	WXS	Illumina GAIIx	Phase_I	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	460	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		108			BTB.		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.323C>A	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938509	0.73557	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	3.67	3.67	0.42095	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000001	D	0.84247	0.5430	M	0.86502	2.82	0.47374	D	0.999402	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.87234	0.2262	10	0.87932	D	0	.	12.906	0.58152	0.0:1.0:0.0:0.0	.	108;108;142	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	K	108;108;142;108	ENSP00000438647:T108K;ENSP00000357411:T108K;ENSP00000406286:T142K;ENSP00000292176:T108K	ENSP00000292176:T108K	T	+	2	0	ZBTB7B	153254083	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	7.578000	0.82498	1.872000	0.54250	0.462000	0.41574	ACA		0.632	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		19	56	1	0	6.49762e-13	1	7.28521e-13	19	56					A	154987459	C	A	154987459	3	1	20	1	0	0	0	0	1	0	0	0	17569	478	17	5	325	5	ZBTB7B	1	154987459	Missense_Mutation	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08	44037116	154987459	94263162	5	1368										
OR10Z1	128368	broad.mit.edu	37	chr1	158576290	158576290	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	cctgggcttctccagttctgGggagttgcagctccttctct	11	13	3	0			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:158576290G>C	ENST00000361284.1	+	1	62	c.62G>C	c.(61-63)gGg>gCg	p.G21A		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCCAGTTCTGGGGAGTTGCAG	0.473																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(61-63)gGg>gCg		olfactory receptor, family 10, subfamily Z, member 1							158	155	156					1																	158576290		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576290G>C	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.62G>C	1.37:g.158576290G>C	ENSP00000354707:p.Gly21Ala		Somatic					p.G21A	NM_001004478.1	NP_001004478.1	WXS	Illumina GAIIx	Phase_I	Q8NGY1	O10Z1_HUMAN			1	62	+	all_hematologic(112;0.0378)		21					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.62G>C	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	4.146	0.025440	0.08054	.	.	ENSG00000198967	ENST00000361284	T	0.00428	7.44	5.25	5.25	0.73442	.	0.000000	0.39834	N	0.001244	T	0.00073	0.0002	N	0.13299	0.325	0.32489	N	0.540494	B	0.19073	0.033	B	0.15870	0.014	T	0.42327	-0.9458	10	0.27785	T	0.31	.	7.4412	0.27185	0.0861:0.1697:0.7442:0.0	.	21	Q8NGY1	O10Z1_HUMAN	A	21	ENSP00000354707:G21A	ENSP00000354707:G21A	G	+	2	0	OR10Z1	156842914	0.000000	0.05858	0.953000	0.39169	0.218000	0.24690	0.050000	0.14120	2.730000	0.93505	0.655000	0.94253	GGG		0.473	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		16	120	0	0	0	1	0	16	120					C	158576290	G	C	158576290	3	2	20	1	0	0	0	0	1	0	0	0	10932	1232	43	5	64	5	OR10Z1	1	158576290	Missense_Mutation	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	3588831	158576290	90674331	6	1369										
GALNT2	2590	broad.mit.edu	37	chr1	230203056	230203056	+	Frame_Shift_Del	DEL	G	G	-													0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	gcgctcgcggatgctgctctGcttcgccttcctgtgggtgc							TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:230203056delG	ENST00000366672.4	+	1	101	c.29delG	c.(28-30)tgcfs	p.C10fs	GALNT2_ENST00000543760.1_Intron|GALNT2_ENST00000541865.1_5'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	10					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ATGCTGCTCTGCTTCGCCTTC	0.771																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(28-30)tcfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							6	5	5					1																	230203056		1902	3791	5693	SO:0001589	frameshift_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.chr1:230203056delG	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.29delG	1.37:g.230203056delG	ENSP00000355632:p.Cys10fs		Somatic				GALNT2_ENST00000543760.1_Intron|GALNT2_ENST00000541865.1_5'UTR	p.C10fs	NM_004481.3	NP_004472.1	WXS	Illumina GAIIx	Phase_I	Q10471	GALT2_HUMAN			1	101	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	10					A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Frame_Shift_Del	DEL	ENST00000366672.4	37	c.29delG	CCDS1582.1																																																																																				0.771	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		2	4						2	4	---	---	---	---	-	230203056	G	-	230203056	7	5	20	1	0	1	0	1	0	0	0	0	6221	1319	46	0	31	0	GALNT2	1	230203056	Frame_Shift_Del	DEL	G	TCGA-N6-A4VG-01A-31D-A28R-08	71626766	230203056	19047565	7	1370										
RIF1	55183	broad.mit.edu	37	chr2	152321302	152321302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	aagaatacagaaaataatgaCgtagagattagtgaaacaaa	8	3	0	5	rs553538022		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:152321302C>T	ENST00000243326.5	+	29	5751	c.5268C>T	c.(5266-5268)gaC>gaT	p.D1756D	RIF1_ENST00000453091.2_Silent_p.D1756D|RIF1_ENST00000444746.2_Silent_p.D1756D|RIF1_ENST00000430328.2_Silent_p.D1756D|RIF1_ENST00000428287.2_Silent_p.D1756D			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)		AAAATAATGACGTAGAGATTA	0.393													C|||	1	0.000199681	0	0	5008	,	,		18457	0		0.001	False		,,,				2504	0					ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(5266-5268)gaC>gaT		RAP1 interacting factor homolog (yeast)							52	53	53					2																	152321302		2203	4300	6503	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152321302C>T	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.5268C>T	2.37:g.152321302C>T			Somatic				RIF1_ENST00000430328.2_Silent_p.D1756D|RIF1_ENST00000444746.2_Silent_p.D1756D|RIF1_ENST00000428287.2_Silent_p.D1756D|RIF1_ENST00000453091.2_Silent_p.D1756D	p.D1756D			WXS	Illumina GAIIx	Phase_I	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	5751	+			1756					A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.5268C>T	CCDS2194.1																																																																																				0.393	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			10	36	0	0	0	1	0	10	36					T	152321302	C	T	152321302	2	4	20	1	0	0	0	0	0	0	0	1	13374	535	19	1		1	RIF1	2	152321302	Silent	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08		152321302	90878071	8	1371										
NGEF	25791	broad.mit.edu	37	chr2	233785144	233785144	+	Frame_Shift_Del	DEL	C	C	-													0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	ctctctggtgggctggccggCtcctcctcctcctcctcttc							TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:233785144delC	ENST00000264051.3	-	5	956	c.678delG	c.(676-678)gagfs	p.E226fs	NGEF_ENST00000373552.4_Frame_Shift_Del_p.E134fs|NGEF_ENST00000409079.1_Frame_Shift_Del_p.E134fs	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	226	Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GGCTGGCCGGctcctcctcct	0.592																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(676-678)gafs		neuronal guanine nucleotide exchange factor							67	70	69					2																	233785144		2203	4300	6503	SO:0001589	frameshift_variant	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233785144delC	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.678delG	2.37:g.233785144delC	ENSP00000264051:p.Glu226fs		Somatic				NGEF_ENST00000373552.4_Frame_Shift_Del_p.E134fs|NGEF_ENST00000409079.1_Frame_Shift_Del_p.E134fs	p.E226fs	NM_019850.2	NP_062824.2	WXS	Illumina GAIIx	Phase_I	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	5	956	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	226			Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Frame_Shift_Del	DEL	ENST00000264051.3	37	c.678delG	CCDS2500.1																																																																																				0.592	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		32	36						32	36	---	---	---	---	-	233785144	C	-	233785144	7	5	20	1	0	1	0	1	0	0	0	0	10403	796	28	0	1498	0	NGEF	2	233785144	Frame_Shift_Del	DEL	C	TCGA-N6-A4VG-01A-31D-A28R-08	81463842	233785144	9414229	9	1372										
UGT1A7	54577	broad.mit.edu	37	chr2	234590591	234590591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	ctgaagttctctgatggctcGtgcagggtggactggcctcc	14	11	1	2			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:234590591G>A	ENST00000373426.3	+	1	8	c.8G>A	c.(7-9)cGt>cAt	p.R3H	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	3					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)	CTGATGGCTCGTGCAGGGTGG	0.527											OREG0003832	type=REGULATORY REGION|Gene=UGT1A7|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000373426.3																			0				NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33						c.(7-9)cGt>cAt									122	120	121					2																	234590591		2203	4300	6503	SO:0001583	missense	0							g.chr2:234590591G>A	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"UDP glucuronosyltransferases"	12539	other	complex locus constituent		606432	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.8G>A	2.37:g.234590591G>A	ENSP00000362525:p.Arg3His		Somatic	OREG0003832	type=REGULATORY REGION|Gene=UGT1A7|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2374	UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron	p.R3H	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	8	+		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.8G>A	CCDS2506.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547073	0.27652	.	.	ENSG00000244122	ENST00000373426	T	0.60424	0.19	4.51	2.58	0.30949	.	.	.	.	.	T	0.43322	0.1242	N	0.24115	0.695	0.09310	N	1	P;P	0.34412	0.453;0.453	B;B	0.30401	0.115;0.115	T	0.37820	-0.9689	9	0.59425	D	0.04	.	13.7686	0.63010	0.0:0.7029:0.2971:0.0	.	3;3	Q5DSZ7;Q9HAW7	.;UD17_HUMAN	H	3	ENSP00000362525:R3H	ENSP00000362525:R3H	R	+	2	0	UGT1A7	234255330	0.001000	0.12720	0.028000	0.17463	0.021000	0.10359	0.064000	0.14437	1.110000	0.41699	-0.540000	0.04249	CGT		0.527	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		52	51	0	0	0	1	0	52	51					A	234590591	G	A	234590591	3	1	20	1	0	0	0	0	1	0	0	0	16965	1145	40	1	10	1	UGT1A7	2	234590591	Missense_Mutation	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	805447	234590591	8608782	10	1373										
FARP2	9855	broad.mit.edu	37	chr2	242380727	242380727	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	tttggttcccagagcatctcAttccccgagggattgaggac	11	11	1	2			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:242380727A>C	ENST00000264042.3	+	13	1337	c.1167A>C	c.(1165-1167)tcA>tcC	p.S389S	FARP2_ENST00000373287.4_Silent_p.S389S|FARP2_ENST00000545004.1_Silent_p.S389S	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	389					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)		AGAGCATCTCATTCCCCGAGG	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.(1165-1167)tcA>tcC		FERM, RhoGEF and pleckstrin domain protein 2							98	94	95					2																	242380727		2203	4300	6503	SO:0001819	synonymous_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242380727A>C	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.1167A>C	2.37:g.242380727A>C			Somatic				FARP2_ENST00000373287.4_Silent_p.S389S|FARP2_ENST00000545004.1_Silent_p.S389S	p.S389S	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)	13	1337	+		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)	389					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	c.1167A>C	CCDS33424.1																																																																																				0.478	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			24	32	0	0	0	1	0	24	32					C	242380727	A	C	242380727	2	2	20	1	0	0	0	0	0	0	0	1	5685	204	8	4		4	FARP2	2	242380727	Silent	SNP	A	TCGA-N6-A4VG-01A-31D-A28R-08	7790136	242380727	818646	11	1374										
BRPF1	7862	broad.mit.edu	37	chr3	9781123	9781123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	caagcagacagatgacgggcGctgggcccatgtggtgtgtg	17	9	0	3	rs149733062		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:9781123G>T	ENST00000457855.1	+	2	1051	c.1040G>T	c.(1039-1041)cGc>cTc	p.R347L	BRPF1_ENST00000383829.2_Missense_Mutation_p.R347L|BRPF1_ENST00000424362.1_Missense_Mutation_p.R347L|BRPF1_ENST00000433861.2_Missense_Mutation_p.R347L|BRPF1_ENST00000302054.3_Missense_Mutation_p.R347L			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	347					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)					GATGACGGGCGCTGGGCCCAT	0.607																																						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.(1039-1041)cGc>cTc		bromodomain and PHD finger containing, 1							150	148	149					3																	9781123		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.chr3:9781123G>T	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1040G>T	3.37:g.9781123G>T	ENSP00000410210:p.Arg347Leu		Somatic				BRPF1_ENST00000433861.2_Missense_Mutation_p.R347L|BRPF1_ENST00000457855.1_Missense_Mutation_p.R347L|BRPF1_ENST00000424362.1_Missense_Mutation_p.R347L|BRPF1_ENST00000302054.3_Missense_Mutation_p.R347L	p.R347L	NM_001003694.1	NP_001003694.1	WXS	Illumina GAIIx	Phase_I	P55201	BRPF1_HUMAN			3	1444	+	Medulloblastoma(99;0.227)		347					B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.1040G>T	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887715	0.72410	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	L	0.61387	1.9	0.80722	D	1	D;P;P;D	0.89917	0.999;0.939;0.882;1.0	D;P;P;D	0.79784	0.989;0.584;0.584;0.993	T	0.10268	-1.0637	10	0.72032	D	0.01	.	15.583	0.76459	0.0659:0.0:0.9341:0.0	.	347;347;347;347	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	L	347	ENSP00000402485:R347L;ENSP00000398863:R347L;ENSP00000373340:R347L;ENSP00000306297:R347L;ENSP00000410210:R347L	ENSP00000306297:R347L	R	+	2	0	BRPF1	9756123	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	9.476000	0.97823	1.577000	0.49804	0.655000	0.94253	CGC		0.607	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		7	220	1	0	0.00198382	1	0.00203892	7	220					T	9781123	G	T	9781123	3	4	20	1	0	0	0	0	1	0	0	0	1522	1087	38	5	1046	5	BRPF1	3	9781123	Missense_Mutation	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08		9781123	188241307	12	1375										
MYRIP	25924	broad.mit.edu	37	chr3	40251350	40251350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	ctggctttcatttaggtgtcGgatgatttatcagagacaga	11	6	2	3			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:40251350G>A	ENST00000302541.6	+	11	2013	c.1671G>A	c.(1669-1671)tcG>tcA	p.S557S	MYRIP_ENST00000444716.1_Silent_p.S557S|MYRIP_ENST00000539167.1_Silent_p.S370S|MYRIP_ENST00000396217.3_Silent_p.S468S|RN7SL411P_ENST00000585204.1_RNA|MYRIP_ENST00000425621.1_Silent_p.S557S|MYRIP_ENST00000459828.1_3'UTR	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	557	Actin-binding.|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)		TTTAGGTGTCGGATGATTTAT	0.483																																						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.(1669-1671)tcG>tcA		myosin VIIA and Rab interacting protein							115	109	111					3																	40251350		2203	4300	6503	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40251350G>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.1671G>A	3.37:g.40251350G>A			Somatic				MYRIP_ENST00000444716.1_Silent_p.S557S|MYRIP_ENST00000396217.3_Silent_p.S468S|MYRIP_ENST00000425621.1_Silent_p.S557S|MYRIP_ENST00000539167.1_Silent_p.S370S|MYRIP_ENST00000459828.1_3'UTR	p.S557S	NM_015460.2	NP_056275.2	WXS	Illumina GAIIx	Phase_I	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	11	2013	+			557			Actin-binding.|Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.1671G>A	CCDS2689.1																																																																																				0.483	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		30	64	0	0	0	1	0	30	64					A	40251350	G	A	40251350	2	1	20	1	0	0	0	0	0	0	0	1	10109	1103	39	1		1	MYRIP	3	40251350	Silent	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	30470227	40251350	157771080	13	1376										
HYAL2	8692	broad.mit.edu	37	chr3	50355733	50355733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	tgtctgcaggtggtcaatgtCggcccaactgagctccccca	11	14	2	1			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:50355733C>T	ENST00000447092.1	-	3	3541	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	HYAL2_ENST00000442581.1_Missense_Mutation_p.D417N|TUSC2_ENST00000462137.1_5'Flank|HYAL2_ENST00000357750.4_Missense_Mutation_p.D417N|HYAL2_ENST00000395139.3_Missense_Mutation_p.D417N			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	417	EGF-like.				carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TGGTCAATGTCGGCCCAACTG	0.612																																						ENST00000447092.1																			0				breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7						c.(1249-1251)Gac>Aac		hyaluronoglucosaminidase 2	Hyaluronidase(DB00070)						67	64	65					3																	50355733		2203	4300	6503	SO:0001583	missense	8692					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity	g.chr3:50355733C>T	AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"lysosomal hyaluronidase", "PH-20 homolog", "hyaluronidase 2"	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.1249G>A	3.37:g.50355733C>T	ENSP00000401853:p.Asp417Asn		Somatic				HYAL2_ENST00000442581.1_Missense_Mutation_p.D417N|HYAL2_ENST00000395139.3_Missense_Mutation_p.D417N|HYAL2_ENST00000357750.4_Missense_Mutation_p.D417N	p.D417N			WXS	Illumina GAIIx	Phase_I	Q12891	HYAL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	3541	-			417			EGF-like.		B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	ENST00000447092.1	37	c.1249G>A	CCDS2818.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092622	0.94149	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	6.08	6.08	0.98989	Epidermal growth factor-like (1);	0.088609	0.85682	D	0.000000	T	0.25975	0.0633	M	0.80183	2.485	0.58432	D	0.999999	P	0.42871	0.792	B	0.36030	0.216	T	0.05022	-1.0911	10	0.39692	T	0.17	-39.5642	19.2415	0.93886	0.0:1.0:0.0:0.0	.	417	Q12891	HYAL2_HUMAN	N	417	ENSP00000401853:D417N;ENSP00000350387:D417N;ENSP00000378571:D417N;ENSP00000406657:D417N	ENSP00000350387:D417N	D	-	1	0	HYAL2	50330737	0.999000	0.42202	0.994000	0.49952	0.649000	0.38597	4.779000	0.62375	2.894000	0.99253	0.655000	0.94253	GAC		0.612	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773		5	50	0	0	0	1	0	5	50					T	50355733	C	T	50355733	3	4	20	1	0	0	0	0	1	0	0	0	7473	884	31	1	176	1	HYAL2	3	50355733	Missense_Mutation	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08	10104383	50355733	147666697	14	1377										
FXR1	8087	broad.mit.edu	37	chr3	180688077	180688077	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	ggtctcgtagacgaaggactGatgaagatgctgttctgatg	14	6	2	5			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:180688077G>A	ENST00000357559.4	+	15	1918	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N	FXR1_ENST00000445140.2_Missense_Mutation_p.D512N|FXR1_ENST00000480918.1_Missense_Mutation_p.D499N|FXR1_ENST00000468861.1_Missense_Mutation_p.D427N|FXR1_ENST00000491062.1_Missense_Mutation_p.D463N|FXR1_ENST00000305586.7_Missense_Mutation_p.D427N	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	512					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ACGAAGGACTGATGAAGATGC	0.423																																						ENST00000357559.4																			0				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(1534-1536)Gat>Aat		fragile X mental retardation, autosomal homolog 1							133	114	120					3																	180688077		2203	4300	6503	SO:0001583	missense	0				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180688077G>A	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1534G>A	3.37:g.180688077G>A	ENSP00000350170:p.Asp512Asn		Somatic				FXR1_ENST00000468861.1_Missense_Mutation_p.D427N|FXR1_ENST00000305586.7_Missense_Mutation_p.D427N|FXR1_ENST00000480918.1_Missense_Mutation_p.D499N|FXR1_ENST00000491062.1_Missense_Mutation_p.D463N|FXR1_ENST00000445140.2_Missense_Mutation_p.D512N	p.D512N	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	WXS	Illumina GAIIx	Phase_I	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		15	1918	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		512					A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	c.1534G>A	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	G	36	5.624975	0.96660	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	T;T;T;T;T;T	0.53423	1.59;1.39;0.65;0.63;0.62;1.39	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.68979	0.3060	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;0.993	D;D;D;D;D;D	0.91635	0.997;0.998;0.998;0.995;0.999;0.977	T	0.68515	-0.5388	10	0.66056	D	0.02	-35.2159	20.3011	0.98612	0.0:0.0:1.0:0.0	.	499;463;427;456;512;512	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	N	512;427;463;427;512;499	ENSP00000350170:D512N;ENSP00000307633:D427N;ENSP00000420643:D463N;ENSP00000420515:D427N;ENSP00000388828:D512N;ENSP00000418097:D499N	ENSP00000307633:D427N	D	+	1	0	FXR1	182170771	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.804000	0.96469	0.650000	0.86243	GAT		0.423	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			19	41	0	0	0	1	0	19	41					A	180688077	G	A	180688077	3	1	20	1	0	0	0	0	1	0	0	0	6123	1290	45	3	1592	3	FXR1	3	180688077	Missense_Mutation	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	130332344	180688077	17334353	15	1378										
SCLT1	132320	broad.mit.edu	37	chr4	129886450	129886450	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	tctgatgcttcctctcttccAtgggcagacaccacatcctt	6	15	2	2			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr4:129886450A>T	ENST00000281142.5	-	11	1304	c.801T>A	c.(799-801)caT>caA	p.H267Q	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	267					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						CCTCTCTTCCATGGGCAGACA	0.343																																						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.(799-801)caT>caA		sodium channel and clathrin linker 1							107	108	108					4																	129886450		2203	4300	6503	SO:0001583	missense	132320					centrosome		g.chr4:129886450A>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.801T>A	4.37:g.129886450A>T	ENSP00000281142:p.His267Gln		Somatic				SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron	p.H267Q	NM_144643.2	NP_653244.2	WXS	Illumina GAIIx	Phase_I	Q96NL6	SCLT1_HUMAN			11	1304	-			267					A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.801T>A	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	A	3.398	-0.122862	0.06795	.	.	ENSG00000151466	ENST00000281142	T	0.08546	3.08	5.79	2.04	0.26737	.	0.181840	0.49305	N	0.000155	T	0.01353	0.0044	N	0.00146	-1.995	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36432	-0.9748	9	.	.	.	-2.9096	4.0705	0.09880	0.1488:0.2759:0.0:0.5754	.	267	Q96NL6	SCLT1_HUMAN	Q	267	ENSP00000281142:H267Q	.	H	-	3	2	SCLT1	130105900	0.968000	0.33430	1.000000	0.80357	0.979000	0.70002	-0.006000	0.12833	0.447000	0.26695	-0.302000	0.09304	CAT		0.343	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		13	26	0	0	0	1	0	13	26					T	129886450	A	T	129886450	3	4	20	1	0	0	0	0	1	0	0	0	13921	214	8	4	1309	4	SCLT1	4	129886450	Missense_Mutation	SNP	A	TCGA-N6-A4VG-01A-31D-A28R-08		129886450	61267826	16	1379										
SLC10A7	84068	broad.mit.edu	37	chr4	147204390	147204390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	cagaaaatgatagccactgtGtctgctggtgtgaaacccga	11	9	1	3			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr4:147204390G>A	ENST00000507030.1	-	10	800	c.801C>T	c.(799-801)gaC>gaT	p.D267D	SLC10A7_ENST00000335472.7_Silent_p.D267D|SLC10A7_ENST00000432059.2_Silent_p.D254D|SLC10A7_ENST00000394062.3_Silent_p.D267D|SLC10A7_ENST00000264986.3_3'UTR			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	267					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					TAGCCACTGTGTCTGCTGGTG	0.338																																						ENST00000432059.2																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16						c.(760-762)gaC>gaT		solute carrier family 10, member 7							96	96	96					4																	147204390		2203	4300	6503	SO:0001819	synonymous_variant	84068					integral to membrane	bile acid:sodium symporter activity	g.chr4:147204390G>A	AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"Solute carriers"	23088	protein-coding gene	gene with protein product		611459	"chromosome 4 open reading frame 13"	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.801C>T	4.37:g.147204390G>A			Somatic				SLC10A7_ENST00000335472.7_Silent_p.D267D|SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000507030.1_Silent_p.D267D|SLC10A7_ENST00000394062.3_Silent_p.D267D	p.D254D			WXS	Illumina GAIIx	Phase_I	Q0GE19	NTCP7_HUMAN			9	1008	-	all_hematologic(180;0.151)		267					A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Silent	SNP	ENST00000507030.1	37	c.762C>T	CCDS34073.1																																																																																				0.338	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366932.1	NM_032128		9	7	0	0	0	1	0	9	7					A	147204390	G	A	147204390	2	1	20	1	0	0	0	0	0	0	0	1	14394	1368	48	3		3	SLC10A7	4	147204390	Silent	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	17317940	147204390	43949886	17	1380										
FBXW7	55294	broad.mit.edu	37	chr4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	gccatcatattgaacacagcGgactgctgcaacatgaccca	8	13	1	2	rs149680468		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		139	Substitution - Missense(138)|Unknown(1)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1513-1515)Cgc>Ggc		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							167	156	160					4																	153247289		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247289G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly		Somatic				FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G	p.R505G	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			10	2742	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1513C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			49	33	0	0	0	1	0	49	33					C	153247289	G	C	153247289	3	2	20	1	0	0	0	0	1	0	0	0	5777	1116	39	5	622	5	FBXW7	4	153247289	Missense_Mutation	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	6042899	153247289	37906987	18	1381										
SEMA5A	9037	broad.mit.edu	37	chr5	9043072	9043072	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	gaataggtcttcccagtgagAtgtgggttgaagtatttgtt	13	4	1	2			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:9043072A>G	ENST00000382496.5	-	23	3827	c.3162T>C	c.(3160-3162)caT>caC	p.H1054H	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1054					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCCCAGTGAGATGTGGGTTGA	0.333																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(3160-3162)caT>caC		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							216	211	213					5																	9043072		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9043072A>G	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.3162T>C	5.37:g.9043072A>G			Somatic				CTD-2215L10.1_ENST00000506519.1_RNA	p.H1054H	NM_003966.2	NP_003957.2	WXS	Illumina GAIIx	Phase_I	Q13591	SEM5A_HUMAN			23	3827	-			1054					D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.3162T>C	CCDS3875.1																																																																																				0.333	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			27	28	0	0	0	1	0	27	28					G	9043072	A	G	9043072	2	3	20	1	0	0	0	0	0	0	0	1	14052	330	12	4		4	SEMA5A	5	9043072	Silent	SNP	A	TCGA-N6-A4VG-01A-31D-A28R-08		9043072	171872188	19	1382										
ADAMTS12	81792	broad.mit.edu	37	chr5	33658404	33658404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	gtgagacaggcccagggtctCgcaggggcgattgaaaccag	16	10	1	2	rs367793699		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:33658404C>T	ENST00000504830.1	-	7	1410	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E359K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	359	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						CCCAGGGTCTCGCAGGGGCGA	0.498										HNSCC(64;0.19)			C|||	1	0.000199681	8e-04	0	5008	,	,		19101	0		0	False		,,,				2504	0					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.(1075-1077)Gag>Aag		ADAM metallopeptidase with thrombospondin type 1 motif, 12		C	LYS/GLU	0,4406		0,0,2203	127	129	128		1075	6.2	1	5		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS12	NM_030955.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	359/1595	33658404	1,13005	2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33658404C>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.1075G>A	5.37:g.33658404C>T	ENSP00000422554:p.Glu359Lys	HNSCC(64;0.19)	Somatic				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E359K	p.E359K	NM_030955.2	NP_112217.2	WXS	Illumina GAIIx	Phase_I	P58397	ATS12_HUMAN			7	1410	-			359			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1075G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	36	5.756516	0.96898	0.0	1.16E-4	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.86366	-2.11;-2.11	6.17	6.17	0.99709	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.044361	0.85682	D	0.000000	D	0.93334	0.7875	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.969;0.997	D	0.92414	0.5940	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	359;359	P58397-3;P58397	.;ATS12_HUMAN	K	359	ENSP00000422554:E359K;ENSP00000344847:E359K	ENSP00000344847:E359K	E	-	1	0	ADAMTS12	33694161	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAG		0.498	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		19	124	0	0	0	1	0	19	124					T	33658404	C	T	33658404	3	4	20	1	0	0	0	0	1	0	0	0	257	893	31	1	3781	1	ADAMTS12	5	33658404	Missense_Mutation	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08	24615332	33658404	147256856	20	1383										
PARP8	79668	broad.mit.edu	37	chr5	50045994	50045994	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	tgttttaacagtgtatcctaCtcagtacatgtatctgaaga	7	7	2	2			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:50045994C>A	ENST00000281631.5	+	3	314	c.156C>A	c.(154-156)taC>taA	p.Y52*	PARP8_ENST00000505697.2_Nonsense_Mutation_p.Y52*|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000514067.2_Nonsense_Mutation_p.Y52*|PARP8_ENST00000505554.1_Nonsense_Mutation_p.Y31*|PARP8_ENST00000503750.2_Nonsense_Mutation_p.Y52*|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	52						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GTGTATCCTACTCAGTACATG	0.333																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(154-156)taC>taA		poly (ADP-ribose) polymerase family, member 8							131	127	128					5																	50045994		2203	4299	6502	SO:0001587	stop_gained	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50045994C>A	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.156C>A	5.37:g.50045994C>A	ENSP00000281631:p.Tyr52*		Somatic				PARP8_ENST00000505554.1_Nonsense_Mutation_p.Y31*|PARP8_ENST00000503750.2_Nonsense_Mutation_p.Y52*|PARP8_ENST00000514067.2_Nonsense_Mutation_p.Y52*|PARP8_ENST00000505697.2_Nonsense_Mutation_p.Y52*|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000511363.2_3'UTR	p.Y52*	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	WXS	Illumina GAIIx	Phase_I	Q8N3A8	PARP8_HUMAN			3	314	+		Lung NSC(810;0.0305)|Breast(144;0.222)	52					Q3KRB7|Q6DHZ1|Q9H754	Nonsense_Mutation	SNP	ENST00000281631.5	37	c.156C>A	CCDS3954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.096102|4.096102	0.76870|0.76870	.|.	.|.	ENSG00000151883|ENSG00000151883	ENST00000503888;ENST00000503193|ENST00000505697;ENST00000503750;ENST00000502524;ENST00000281631;ENST00000514067;ENST00000503046;ENST00000505554	.|.	.|.	.|.	5.41|5.41	2.45|2.45	0.29901|0.29901	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.55146|.	0.1902|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48375|.	-0.9041|.	4|.	.|.	.|.	.|.	-15.5168|-15.5168	7.3514|7.3514	0.26693|0.26693	0.0:0.7019:0.0:0.2981|0.0:0.7019:0.0:0.2981	.|.	.|.	.|.	.|.	N|X	34|52;52;52;52;52;52;31	.|.	.|.	T|Y	+|+	2|3	0|2	PARP8|PARP8	50081751|50081751	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.623000|0.623000	0.37688|0.37688	0.161000|0.161000	0.16481|0.16481	0.678000|0.678000	0.31325|0.31325	0.555000|0.555000	0.69702|0.69702	ACT|TAC		0.333	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		5	2	1	0	0.000602214	1	0.000645853	5	2					A	50045994	C	A	50045994	4	1	20	1	0	0	0	0	0	1	0	0	11474	576	20	5	166	5	PARP8	5	50045994	Nonsense_Mutation	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08	16387590	50045994	130869266	21	1384										
RAPGEF6	51735	broad.mit.edu	37	chr5	130764852	130764852	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	aaatccccaaatatcctggaGgagtgggaggtggctcccta	12	10	0	0			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:130764852G>T	ENST00000509018.1	-	27	4728	c.4523C>A	c.(4522-4524)cCt>cAt	p.P1508H	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.P1516H|RAPGEF6_ENST00000507093.1_Intron|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.P1558H|RAPGEF6_ENST00000307984.5_Intron	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1508					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)		ATATCCTGGAGGAGTGGGAGG	0.448																																					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.(4522-4524)cCt>cAt		Rap guanine nucleotide exchange factor (GEF) 6							96	97	96					5																	130764852		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.chr5:130764852G>T	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4523C>A	5.37:g.130764852G>T	ENSP00000421684:p.Pro1508His		Somatic				RAPGEF6_ENST00000296859.6_Missense_Mutation_p.P1516H|RAPGEF6_ENST00000507093.1_Intron|RAPGEF6_ENST00000307984.5_Intron|FNIP1_ENST00000514667.1_Missense_Mutation_p.P1558H	p.P1508H	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)	27	4728	-			1508					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.4523C>A	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392366	0.83011	.	.	ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000296859;ENST00000514667	T;T;T	0.43688	0.94;0.95;1.07	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.99;0.99	T	0.67476	-0.5661	10	0.87932	D	0	.	18.6094	0.91279	0.0:0.0:1.0:0.0	.	1516;1558;1508	B7ZML2;E9PCH4;Q8TEU7	.;.;RPGF6_HUMAN	H	1508;1516;1558	ENSP00000421684:P1508H;ENSP00000296859:P1516H;ENSP00000426948:P1558H	ENSP00000426948:P1558H	P	-	2	0	RAPGEF6;FNIP1	130792751	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.592000	0.90828	2.638000	0.89438	0.655000	0.94253	CCT		0.448	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		73	7	1	0	1.43675e-24	1	1.71484e-24	73	7					T	130764852	G	T	130764852	3	4	20	1	0	0	0	0	1	0	0	0	13063	1000	35	5	290	5	RAPGEF6	5	130764852	Missense_Mutation	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	80718858	130764852	50150408	22	1385										
GMDS	2762	broad.mit.edu	37	chr6	1961068	1961068	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	gggtatttcctgcactttccCataaagttcacttgttgagg	9	9	1	1	rs199870515		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr6:1961068C>G	ENST00000380815.4	-	5	747	c.478G>C	c.(478-480)Ggg>Cgg	p.G160R	GMDS_ENST00000530927.1_Missense_Mutation_p.G130R	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	160					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TGCACTTTCCCATAAAGTTCA	0.502																																						ENST00000380815.4																		GMDS/PDE8B(2)	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(478-480)Ggg>Cgg		GDP-mannose 4,6-dehydratase							160	160	160					6																	1961068		2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1961068C>G	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	4369	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 3E, member 1"	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.478G>C	6.37:g.1961068C>G	ENSP00000370194:p.Gly160Arg		Somatic				GMDS_ENST00000530927.1_Missense_Mutation_p.G130R	p.G160R	NM_001500.3	NP_001491.1	WXS	Illumina GAIIx	Phase_I	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	5	747	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	160					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.478G>C	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619911	0.87460	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.95137	-3.62;-3.62	5.26	5.26	0.73747	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98767	0.9585	H	0.99545	4.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99774	1.1025	10	0.87932	D	0	-17.649	18.8773	0.92343	0.0:1.0:0.0:0.0	.	160	O60547	GMDS_HUMAN	R	130;160	ENSP00000436726:G130R;ENSP00000370194:G160R	ENSP00000370194:G160R	G	-	1	0	GMDS	1906067	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.458000	0.83093	0.655000	0.94253	GGG		0.502	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			28	66	0	0	0	1	0	28	66					G	1961068	C	G	1961068	3	3	20	1	0	0	0	0	1	0	0	0	6494	594	21	5	668	5	GMDS	6	1961068	Missense_Mutation	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08		1961068	169153999	23	1386										
KLHDC3	116138	broad.mit.edu	37	chr6	42986290	42986290	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	gaggggcgccggagccactcGgcctgtgagtgtttgttact	16	10	0	1			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr6:42986290G>C	ENST00000326974.4	+	6	924	c.729G>C	c.(727-729)tcG>tcC	p.S243S	KLHDC3_ENST00000244670.8_Silent_p.S109S|KLHDC3_ENST00000332245.8_Silent_p.S184S	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	243					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)			GGAGCCACTCGGCCTGTGAGT	0.572																																						ENST00000326974.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(727-729)tcG>tcC		kelch domain containing 3							114	124	121					6																	42986290		2203	4300	6503	SO:0001819	synonymous_variant	116138				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding	g.chr6:42986290G>C	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.729G>C	6.37:g.42986290G>C			Somatic				KLHDC3_ENST00000332245.8_Silent_p.S184S|KLHDC3_ENST00000244670.8_Silent_p.S109S	p.S243S	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)		6	924	+			243					A8K2W9	Silent	SNP	ENST00000326974.4	37	c.729G>C	CCDS4880.1																																																																																				0.572	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	NM_057161		33	198	0	0	0	1	0	33	198					C	42986290	G	C	42986290	2	2	20	1	0	0	0	0	0	0	0	1	8366	1103	39	5		5	KLHDC3	6	42986290	Silent	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	41025222	42986290	128128777	24	1387										
PRDM1	639	broad.mit.edu	37	chr6	106553302	106553302	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	ccccctacggcatgaattgtAatggcctgagcgctgtgagc	12	12	0	3			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr6:106553302A>C	ENST00000369096.4	+	5	1501	c.1267A>C	c.(1267-1269)Aat>Cat	p.N423H	PRDM1_ENST00000369091.2_Missense_Mutation_p.N387H|PRDM1_ENST00000369089.3_Missense_Mutation_p.N289H	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	423					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CATGAATTGTAATGGCCTGAG	0.602			"D, N, Mis, F, S"		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"D, N, Mis, F, S"	"PR domain containing 1, with ZNF domain"			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(1267-1269)Aat>Cat		PR domain containing 1, with ZNF domain							74	58	64					6																	106553302		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106553302A>C		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1267A>C	6.37:g.106553302A>C	ENSP00000358092:p.Asn423His		Somatic				PRDM1_ENST00000369089.3_Missense_Mutation_p.N289H|PRDM1_ENST00000369091.2_Missense_Mutation_p.N387H	p.N423H	NM_001198.3	NP_001189.2	WXS	Illumina GAIIx	Phase_I	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1501	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	423					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.1267A>C	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	A	13.37	2.216878	0.39201	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.07908	3.17;3.15;3.18	5.74	4.57	0.56435	.	0.242171	0.48767	D	0.000169	T	0.06781	0.0173	M	0.63428	1.95	0.22737	N	0.998791	P;D	0.57257	0.94;0.979	P;P	0.52189	0.664;0.692	T	0.25047	-1.0143	10	0.18276	T	0.48	-22.5885	12.3789	0.55295	0.8592:0.1408:0.0:0.0	.	289;423	Q86WM7;O75626	.;PRDM1_HUMAN	H	387;423;387;289	ENSP00000358087:N387H;ENSP00000358092:N423H;ENSP00000358085:N289H	ENSP00000358085:N289H	N	+	1	0	PRDM1	106659995	1.000000	0.71417	0.198000	0.23420	0.676000	0.39594	4.529000	0.60588	0.984000	0.38629	0.533000	0.62120	AAT		0.602	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			80	431	0	0	0	1	0	80	431					C	106553302	A	C	106553302	3	2	20	1	0	0	0	0	1	0	0	0	12462	362	13	4	1298	4	PRDM1	6	106553302	Missense_Mutation	SNP	A	TCGA-N6-A4VG-01A-31D-A28R-08	63567012	106553302	64561765	25	1388										
DNAH11	55536	broad.mit.edu	37	chr7	21940750	21940750	+	3'UTR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	aagaaaccaaacagacctacGagtgccctgtgtatagaacc	8	11	0	3	rs551275210		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr7:21940750G>A	ENST00000406877.3	-	0	2834				DNAH11_ENST00000328843.6_Missense_Mutation_p.E4484K|CDCA7L_ENST00000356195.5_3'UTR|DNAH11_ENST00000409508.3_Missense_Mutation_p.E4477K	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						ACAGACCTACGAGTGCCCTGT	0.527													G|||	1	0.000199681	8e-04	0	5008	,	,		18010	0		0	False		,,,				2504	0					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.(13450-13452)Gag>Aag		dynein, axonemal, heavy chain 11							80	85	83					7																	21940750		1896	4114	6010	SO:0001624	3_prime_UTR_variant	8701	Kartagener syndrome			microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21940750G>A		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.*1190C>T	7.37:g.21940750G>A			Somatic				CDCA7L_ENST00000356195.5_3'UTR|CDCA7L_ENST00000406877.3_3'UTR|DNAH11_ENST00000409508.3_Missense_Mutation_p.E4477K	p.E4484K			WXS	Illumina GAIIx	Phase_I	Q96DT5	DYH11_HUMAN			83	13481	+			4484					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.13450G>A	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967456	0.74131	.	.	ENSG00000105877	ENST00000328843	T	0.09073	3.02	5.97	5.97	0.96955	Dynein heavy chain (1);	0.135067	0.64402	D	0.000003	T	0.10809	0.0264	.	.	.	0.80722	D	1	D	0.58970	0.984	P	0.48704	0.587	T	0.25882	-1.0119	9	0.14656	T	0.56	.	14.5654	0.68171	0.0694:0.0:0.9306:0.0	.	4484	Q96DT5	DYH11_HUMAN	K	4484	ENSP00000330671:E4484K	ENSP00000330671:E4484K	E	+	1	0	DNAH11	21907275	1.000000	0.71417	0.729000	0.30791	0.493000	0.33554	3.917000	0.56424	2.837000	0.97791	0.655000	0.94253	GAG		0.527	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		48	59	0	0	0	1	0	48	59					A	21940750	G	A	21940750	1	1	20	0	1	0	0	0	0	0	0	0	4601	1059	37	1		1	DNAH11	7	21940750	3'UTR	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08		21940750	137197913	26	1389										
GPR37	2861	broad.mit.edu	37	chr7	124386910	124386910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	agatattttcaggaataatgCaaaatccatataaaatggtc	6	5	1	1			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr7:124386910C>T	ENST00000303921.2	-	2	2161	c.1511G>A	c.(1510-1512)tGc>tAc	p.C504Y		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	504				FC -> LG (in Ref. 3; AAC51281). {ECO:0000305}.	dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGGAATAATGCAAAATCCATA	0.423																																						ENST00000303921.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1510-1512)tGc>tAc		G protein-coupled receptor 37 (endothelin receptor type B-like)							107	101	103					7																	124386910		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124386910C>T		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1511G>A	7.37:g.124386910C>T	ENSP00000306449:p.Cys504Tyr		Somatic					p.C504Y	NM_005302.2	NP_005293.1	WXS	Illumina GAIIx	Phase_I	O15354	GPR37_HUMAN			2	2161	-			504	FC -> LG (in Ref. 3; AAC51281).				A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.1511G>A	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817784	0.71028	.	.	ENSG00000170775	ENST00000303921	T	0.54279	0.58	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.74007	0.3660	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76366	-0.2985	10	0.87932	D	0	-26.0153	18.635	0.91374	0.0:1.0:0.0:0.0	.	504	O15354	GPR37_HUMAN	Y	504	ENSP00000306449:C504Y	ENSP00000306449:C504Y	C	-	2	0	GPR37	124174146	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.639000	0.89480	0.655000	0.94253	TGC		0.423	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		25	38	0	0	0	1	0	25	38					T	124386910	C	T	124386910	3	4	20	1	0	0	0	0	1	0	0	0	6699	710	25	3	334	3	GPR37	7	124386910	Missense_Mutation	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08	102446160	124386910	34751753	27	1390										
CA13	377677	broad.mit.edu	37	chr8	86193464	86193464	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	tttcttcttctacagctggcCaaatttcgcagtctcctgtg	7	12	4	0			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr8:86193464C>G	ENST00000321764.3	+	7	977	c.675C>G	c.(673-675)gcC>gcG	p.A225A		NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	225					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|myelin sheath (GO:0043209)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)	7					Zonisamide(DB00909)	TACAGCTGGCCAAATTTCGCA	0.463																																						ENST00000321764.3																			0				large_intestine(1)|lung(6)	7						c.(673-675)gcC>gcG		carbonic anhydrase XIII							145	172	163					8																	86193464		2203	4300	6503	SO:0001819	synonymous_variant	377677				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:86193464C>G	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.675C>G	8.37:g.86193464C>G			Somatic					p.A225A	NM_198584.2	NP_940986.1	WXS	Illumina GAIIx	Phase_I	Q8N1Q1	CAH13_HUMAN			7	977	+			225						Silent	SNP	ENST00000321764.3	37	c.675C>G	CCDS6236.1																																																																																				0.463	CA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381066.1	NM_198584		14	207	0	0	0	1	0	14	207					G	86193464	C	G	86193464	2	3	20	1	0	0	0	0	0	0	0	1	2516	581	21	5		5	CA13	8	86193464	Silent	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08		86193464	60170558	28	1391										
C8orf76	84933	broad.mit.edu	37	chr8	124243797	124243797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	ctgtgctgtttctgagatgaCgcaagtgctgctgaaagagc	13	8	1	4			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr8:124243797C>T	ENST00000276704.4	-	4	609	c.558G>A	c.(556-558)gcG>gcA	p.A186A	ZHX1-C8ORF76_ENST00000357082.4_Silent_p.A154A|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	186										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TCTGAGATGACGCAAGTGCTG	0.438																																						ENST00000276704.4																			0				NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17						c.(556-558)gcG>gcA		chromosome 8 open reading frame 76							145	153	150					8																	124243797		2203	4300	6503	SO:0001819	synonymous_variant	84933						binding	g.chr8:124243797C>T	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.558G>A	8.37:g.124243797C>T			Somatic				C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Silent_p.A154A	p.A186A	NM_032847.2	NP_116236.1	WXS	Illumina GAIIx	Phase_I	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		4	609	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		186					Q53HC1	Silent	SNP	ENST00000276704.4	37	c.558G>A	CCDS6341.1																																																																																				0.438	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		18	128	0	0	0	1	0	18	128					T	124243797	C	T	124243797	2	4	20	1	0	0	0	0	0	0	0	1	2439	523	19	1		1	C8orf76	8	124243797	Silent	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08	38050333	124243797	22120225	29	1392										
MYC	4609	broad.mit.edu	37	chr8	128753004	128753004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	ggaacgagctaaaacggagcTtttttgccctgcgtgaccag	12	10	0	1			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr8:128753004T>C	ENST00000377970.2	+	3	1675	c.1165T>C	c.(1165-1167)Ttt>Ctt	p.F389L	MYC_ENST00000524013.1_Missense_Mutation_p.F388L	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	374	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	AAAACGGAGCTTTTTTGCCCT	0.522		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"																																	ENST00000377970.2		3		Dom	yes		8	8q24.12-q24.13	4609	"A, T"	v-myc myelocytomatosis viral oncogene homolog (avian)			"L, E"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"		"Burkitt lymphoma,  amplified in other cancers, B-CLL"		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(1165-1167)Ttt>Ctt		v-myc avian myelocytomatosis viral oncogene homolog							117	129	125					8																	128753004		2203	4300	6503	SO:0001583	missense	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128753004T>C		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000377970.2:c.1165T>C	8.37:g.128753004T>C	ENSP00000367207:p.Phe389Leu		Somatic				MYC_ENST00000524013.1_Missense_Mutation_p.F388L	p.F389L	NM_002467.4	NP_002458.2	WXS	Illumina GAIIx	Phase_I	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	3	1675	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	374			Helix-loop-helix motif.		A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000377970.2	37	c.1165T>C	CCDS6359.2	.	.	.	.	.	.	.	.	.	.	T	33	5.232656	0.95207	.	.	ENSG00000136997	ENST00000377970;ENST00000524013;ENST00000454617	D;D	0.90261	-2.64;-2.64	5.39	5.39	0.77823	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.95191	0.8441	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95747	0.8788	10	0.87932	D	0	-10.8988	14.5824	0.68300	0.0:0.0:0.0:1.0	.	374	P01106	MYC_HUMAN	L	389;388;355	ENSP00000367207:F389L;ENSP00000430235:F388L	ENSP00000367207:F389L	F	+	1	0	MYC	128822186	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.036000	0.88901	2.038000	0.60285	0.528000	0.53228	TTT		0.522	MYC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250277.3			119	132	0	0	0	1	0	119	132					C	128753004	T	C	128753004	3	2	20	1	0	0	0	0	1	0	0	0	10025	1609	56	4	1175	4	MYC	8	128753004	Missense_Mutation	SNP	T	TCGA-N6-A4VG-01A-31D-A28R-08	4509207	128753004	17611018	30	1393										
NTRK2	4915	broad.mit.edu	37	chr9	87635192	87635192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	atgtacaggaaattcacgacGgaaagcgacgtctggagcct	12	9	2	0			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr9:87635192G>A	ENST00000323115.4	+	16	2549	c.2196G>A	c.(2194-2196)acG>acA	p.T732T	NTRK2_ENST00000277120.3_Silent_p.T748T|NTRK2_ENST00000376214.1_Silent_p.T748T|NTRK2_ENST00000376213.1_Silent_p.T732T			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	732	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	AATTCACGACGGAAAGCGACG	0.552										TSP Lung(25;0.17)																												ENST00000376214.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(2242-2244)acG>acA		neurotrophic tyrosine kinase, receptor, type 2							139	128	132					9																	87635192		2203	4300	6503	SO:0001819	synonymous_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87635192G>A	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2196G>A	9.37:g.87635192G>A		TSP Lung(25;0.17)	Somatic				NTRK2_ENST00000376213.1_Silent_p.T732T|NTRK2_ENST00000323115.4_Silent_p.T732T|NTRK2_ENST00000277120.3_Silent_p.T748T	p.T748T	NM_006180.3	NP_006171.2	WXS	Illumina GAIIx	Phase_I	Q16620	NTRK2_HUMAN			20	3182	+			732			Protein kinase.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	37	c.2244G>A	CCDS35050.1																																																																																				0.552	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			46	78	0	0	0	1	0	46	78					A	87635192	G	A	87635192	2	1	20	1	0	0	0	0	0	0	0	1	10716	1103	39	1		1	NTRK2	9	87635192	Silent	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08		87635192	53578239	31	1394										
PHF19	26147	broad.mit.edu	37	chr9	123628012	123628012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	ccaagctgcaggagctcccaGtggtggttgacaaaggccag	14	11	0	1			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr9:123628012G>T	ENST00000373896.3	-	9	1128	c.876C>A	c.(874-876)caC>caA	p.H292Q	PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Missense_Mutation_p.H83Q	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	292					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAGCTCCCAGTGGTGGTTGA	0.557																																						ENST00000373896.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(874-876)caC>caA		PHD finger protein 19							109	109	109					9																	123628012		2203	4300	6503	SO:0001583	missense	26147				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr9:123628012G>T	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"Tudor domain containing", "Zinc fingers, PHD-type"	24566	protein-coding gene	gene with protein product	"polycomb-like 3", "tudor domain containing 19B"	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.876C>A	9.37:g.123628012G>T	ENSP00000363003:p.His292Gln		Somatic				PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Missense_Mutation_p.H83Q	p.H292Q	NM_015651.1	NP_056466.1	WXS	Illumina GAIIx	Phase_I	Q5T6S3	PHF19_HUMAN			9	1128	-			292					Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	37	c.876C>A	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	g	17.85	3.490317	0.64074	.	.	ENSG00000119403	ENST00000544082;ENST00000373896;ENST00000419155;ENST00000453868	T;T;T	0.47528	1.89;0.88;0.84	4.84	3.95	0.45737	.	0.192320	0.43110	D	0.000613	T	0.33030	0.0849	N	0.25890	0.77	0.49687	D	0.99981	P	0.37330	0.59	B	0.33846	0.171	T	0.18681	-1.0329	10	0.49607	T	0.09	-26.6569	11.979	0.53109	0.0854:0.0:0.9146:0.0	.	292	Q5T6S3	PHF19_HUMAN	Q	292;292;83;83	ENSP00000363003:H292Q;ENSP00000407433:H83Q;ENSP00000395938:H83Q	ENSP00000363003:H292Q	H	-	3	2	PHF19	122667833	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.570000	0.73996	1.276000	0.44395	-0.265000	0.10407	CAC		0.557	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		20	55	1	0	2.37509e-13	1	2.70395e-13	20	55					T	123628012	G	T	123628012	3	4	20	1	0	0	0	0	1	0	0	0	11838	1020	36	5	894	5	PHF19	9	123628012	Missense_Mutation	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	35992820	123628012	17585419	32	1395										
CUTC	51076	broad.mit.edu	37	chr10	101492109	101492109	+	Frame_Shift_Del	DEL	A	A	-													0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	ggaggaacgcgtggagcatgAaaaggcagggggcctcctct							TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr10:101492109delA	ENST00000370476.5	+	1	133	c.4delA	c.(4-6)aaafs	p.K2fs	COX15_ENST00000016171.5_5'Flank|COX15_ENST00000370483.5_5'Flank|CUTC_ENST00000493385.1_Intron	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	2					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)		GTGGAGCATGAAAAGGCAGGG	0.677																																						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.(4-6)aafs		cutC copper transporter							20	18	19					10																	101492109		2095	4143	6238	SO:0001589	frameshift_variant	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101492109delA	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.4delA	10.37:g.101492109delA	ENSP00000359507:p.Lys2fs		Somatic				CUTC_ENST00000493385.1_Intron	p.K2fs	NM_015960.2	NP_057044.2	WXS	Illumina GAIIx	Phase_I	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	1	133	+		Colorectal(252;0.234)	2					Q5TCZ8|Q9Y321	Frame_Shift_Del	DEL	ENST00000370476.5	37	c.4delA	CCDS7483.1																																																																																				0.677	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	NM_015960		2	4						2	4	---	---	---	---	-	101492109	A	-	101492109	7	5	20	1	0	1	0	1	0	0	0	0	4065	247	9	0	6	0	CUTC	10	101492109	Frame_Shift_Del	DEL	A	TCGA-N6-A4VG-01A-31D-A28R-08		101492109	34042638	33	1396										
HPX	3263	broad.mit.edu	37	chr11	6452620	6452620	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	ttccatacacaaggctccgtCtaccttctcatggggccaag	8	14	2	0			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr11:6452620C>T	ENST00000265983.3	-	10	1310	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	404					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		AAGGCTCCGTCTACCTTCTCA	0.572																																						ENST00000265983.3																			0				endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15						c.(1210-1212)Gac>Aac		hemopexin							135	122	127					11																	6452620		2201	4296	6497	SO:0001583	missense	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6452620C>T	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1210G>A	11.37:g.6452620C>T	ENSP00000265983:p.Asp404Asn		Somatic					p.D404N	NM_000613.2	NP_000604.1	WXS	Illumina GAIIx	Phase_I	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	10	1310	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	404					B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.1210G>A	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511860	0.85389	.	.	ENSG00000110169	ENST00000265983	T	0.14391	2.51	5.64	5.64	0.86602	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.43831	0.1265	M	0.84948	2.725	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.41574	-0.9501	10	0.62326	D	0.03	-21.1343	17.1864	0.86868	0.0:1.0:0.0:0.0	.	404	P02790	HEMO_HUMAN	N	404	ENSP00000265983:D404N	ENSP00000265983:D404N	D	-	1	0	HPX	6409196	0.996000	0.38824	0.983000	0.44433	0.791000	0.44710	2.650000	0.46665	2.676000	0.91093	0.561000	0.74099	GAC		0.572	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		47	10	0	0	0	1	0	47	10					T	6452620	C	T	6452620	3	4	20	1	0	0	0	0	1	0	0	0	7355	913	32	3	182	3	HPX	11	6452620	Missense_Mutation	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08		6452620	128553896	34	1397										
OR5F1	338674	broad.mit.edu	37	chr11	55761779	55761779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	agaggatgcattcggttgtcGccagggagataaagaagtac	14	6	0	3	rs200586728		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr11:55761779G>A	ENST00000278409.1	-	1	322	c.323C>T	c.(322-324)gCg>gTg	p.A108V		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	108					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(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)					TTCGGTTGTCGCCAGGGAGAT	0.478																																						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.(322-324)gCg>gTg		olfactory receptor, family 5, subfamily F, member 1							85	83	84					11																	55761779		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761779G>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.323C>T	11.37:g.55761779G>A	ENSP00000278409:p.Ala108Val		Somatic					p.A108V	NM_003697.1	NP_003688.1	WXS	Illumina GAIIx	Phase_I	O95221	OR5F1_HUMAN			1	322	-	Esophageal squamous(21;0.00448)		108					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.323C>T	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.537844	0.00942	.	.	ENSG00000149133	ENST00000278409	T	0.01359	4.98	3.03	-1.97	0.07503	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00784	0.0026	N	0.10760	0.04	0.09310	N	1	D	0.57257	0.979	B	0.41135	0.348	T	0.49194	-0.8965	9	0.09084	T	0.74	.	8.9984	0.36066	0.1198:0.6657:0.2144:0.0	.	108	O95221	OR5F1_HUMAN	V	108	ENSP00000278409:A108V	ENSP00000278409:A108V	A	-	2	0	OR5F1	55518355	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	-1.350000	0.02624	-0.045000	0.13468	0.297000	0.19635	GCG		0.478	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		52	34	0	0	0	1	0	52	34					A	55761779	G	A	55761779	3	1	20	1	0	0	0	0	1	0	0	0	11167	1087	38	1	624	1	OR5F1	11	55761779	Missense_Mutation	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	49309159	55761779	79244737	35	1398										
SLC2A14	144195	broad.mit.edu	37	chr12	7982369	7982369	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	agttctagagtacctgggccAccagaattccaataactatg	8	10	1	2			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr12:7982369A>C	ENST00000543909.1	-	10	1334	c.575T>G	c.(574-576)gTg>gGg	p.V192G	SLC2A14_ENST00000340749.5_Missense_Mutation_p.V169G|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000539924.1_Missense_Mutation_p.V207G|SLC2A14_ENST00000542546.1_Missense_Mutation_p.V83G|SLC2A14_ENST00000396589.2_Missense_Mutation_p.V192G|SLC2A14_ENST00000535295.1_Missense_Mutation_p.V83G|SLC2A14_ENST00000431042.2_Missense_Mutation_p.V169G			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	192					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TACCTGGGCCACCAGAATTCC	0.443																																						ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(574-576)gTg>gGg		solute carrier family 2 (facilitated glucose transporter), member 14							54	52	53					12																	7982369		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7982369A>C	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.575T>G	12.37:g.7982369A>C	ENSP00000440480:p.Val192Gly		Somatic				SLC2A14_ENST00000539924.1_Missense_Mutation_p.V207G|SLC2A14_ENST00000542546.1_Missense_Mutation_p.V83G|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.V192G|SLC2A14_ENST00000535295.1_Missense_Mutation_p.V83G|SLC2A14_ENST00000340749.5_Missense_Mutation_p.V169G|SLC2A14_ENST00000431042.2_Missense_Mutation_p.V169G	p.V192G			WXS	Illumina GAIIx	Phase_I	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	10	1334	-			192					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.575T>G	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	a	14.99	2.701477	0.48307	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924;ENST00000546234	T;T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	3.41	3.41	0.39046	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.204994	0.42682	D	0.000661	T	0.79381	0.4436	M	0.82193	2.58	0.80722	D	1	B;B;B;B	0.32365	0.231;0.231;0.367;0.231	B;B;B;B	0.37451	0.25;0.25;0.227;0.25	T	0.80430	-0.1386	10	0.87932	D	0	.	9.8101	0.40817	1.0:0.0:0.0:0.0	.	207;83;169;192	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	G	169;192;169;192;83;83;207;169	ENSP00000340450:V169G;ENSP00000440480:V192G;ENSP00000407287:V169G;ENSP00000379834:V192G;ENSP00000440492:V83G;ENSP00000443903:V83G;ENSP00000445929:V207G;ENSP00000440043:V169G	ENSP00000340450:V169G	V	-	2	0	SLC2A14	7873636	1.000000	0.71417	0.995000	0.50966	0.805000	0.45488	8.180000	0.89694	1.174000	0.42811	0.377000	0.23210	GTG		0.443	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		20	30	0	0	0	1	0	20	30					C	7982369	A	C	7982369	3	2	20	1	0	0	0	0	1	0	0	0	14558	159	6	4	1015	4	SLC2A14	12	7982369	Missense_Mutation	SNP	A	TCGA-N6-A4VG-01A-31D-A28R-08		7982369	125869526	36	1399										
ALKBH2	121642	broad.mit.edu	37	chr12	109526301	109526301	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	tcggtgctccccgatgtggtCacagccatctttatacctgc	9	14	2	0			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr12:109526301C>G	ENST00000429722.2	-	4	859	c.496G>C	c.(496-498)Gac>Cac	p.D166H	ALKBH2_ENST00000343075.3_Missense_Mutation_p.D166H|ALKBH2_ENST00000440112.2_Silent_p.V99V	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	166	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	CCGATGTGGTCACAGCCATCT	0.532								Direct reversal of damage																														ENST00000429722.2																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8						c.(496-498)Gac>Cac	Direct reversal of damage	alkB, alkylation repair homolog 2 (E. coli)	Vitamin C(DB00126)						65	71	69					12																	109526301		2203	4300	6503	SO:0001583	missense	121642				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:109526301C>G	AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"Alkylation repair homologs"	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.496G>C	12.37:g.109526301C>G	ENSP00000398181:p.Asp166His		Somatic				ALKBH2_ENST00000343075.3_Missense_Mutation_p.D166H|ALKBH2_ENST00000440112.2_Silent_p.V99V	p.D166H	NM_001145374.1	NP_001138846.1	WXS	Illumina GAIIx	Phase_I	Q6NS38	ALKB2_HUMAN			4	859	-			166			Fe2OG dioxygenase.		A4PET2|Q5XLE3	Missense_Mutation	SNP	ENST00000429722.2	37	c.496G>C	CCDS31897.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217565	0.79352	.	.	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370	T;T	0.19669	2.13;2.13	5.64	5.64	0.86602	Oxoglutarate/iron-dependent oxygenase (2);	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52593	-0.8555	9	0.87932	D	0	-37.8812	18.6862	0.91565	0.0:1.0:0.0:0.0	.	166	Q6NS38	ALKB2_HUMAN	H	166	ENSP00000398181:D166H;ENSP00000343021:D166H	ENSP00000343021:D166H	D	-	1	0	ALKBH2	108010684	1.000000	0.71417	0.959000	0.39883	0.755000	0.42902	7.083000	0.76859	2.652000	0.90054	0.655000	0.94253	GAC		0.532	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	NM_001001655		13	104	0	0	0	1	0	13	104					G	109526301	C	G	109526301	3	3	20	1	0	0	0	0	1	0	0	0	527	826	29	2	293	2	ALKBH2	12	109526301	Missense_Mutation	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08	101543932	109526301	24325594	37	1400										
RXFP2	122042	broad.mit.edu	37	chr13	32335879	32335879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	aggtgacactagtggatgggCgaccatatttggcacagtgc	14	8	0	1	rs373570227		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr13:32335879C>T	ENST00000298386.2	+	3	331	c.260C>T	c.(259-261)gCg>gTg	p.A87V	RXFP2_ENST00000380314.1_Missense_Mutation_p.A87V	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	87					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AGTGGATGGGCGACCATATTT	0.383																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(259-261)gCg>gTg		relaxin/insulin-like family peptide receptor 2		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	142	125	131		260,260	5	1	13		131	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	RXFP2	NM_001166058.1,NM_130806.3	64,64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	87/731,87/755	32335879	2,13004	2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32335879C>T	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.260C>T	13.37:g.32335879C>T	ENSP00000298386:p.Ala87Val		Somatic				RXFP2_ENST00000380314.1_Missense_Mutation_p.A87V	p.A87V	NM_130806.3	NP_570718.1	WXS	Illumina GAIIx	Phase_I	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	3	331	+		Lung SC(185;0.0262)	87					B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.260C>T	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781304	0.49891	0.0	2.33E-4	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.72394	-0.65;-0.56	5.82	4.97	0.65823	.	0.173700	0.50627	N	0.000118	T	0.67534	0.2903	M	0.64997	1.995	0.39801	D	0.972573	B;B	0.18461	0.028;0.028	B;B	0.13407	0.009;0.009	T	0.66260	-0.5968	10	0.46703	T	0.11	.	13.0644	0.59025	0.0:0.9217:0.0:0.0783	.	87;87	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	V	87	ENSP00000369670:A87V;ENSP00000298386:A87V	ENSP00000298386:A87V	A	+	2	0	RXFP2	31233879	1.000000	0.71417	0.964000	0.40570	0.827000	0.46813	2.794000	0.47853	1.462000	0.47948	0.655000	0.94253	GCG		0.383	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		15	16	0	0	0	1	0	15	16					T	32335879	C	T	32335879	3	4	20	1	0	0	0	0	1	0	0	0	13775	768	27	1	270	1	RXFP2	13	32335879	Missense_Mutation	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08		32335879	82833999	38	1401										
FREM2	341640	broad.mit.edu	37	chr13	39451347	39451347	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	tgtctgatggatccatgggaTtcgggcaagagagtgatgtt	15	5	1	3			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr13:39451347T>C	ENST00000280481.7	+	21	8854	c.8638T>C	c.(8638-8640)Ttc>Ctc	p.F2880L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2880					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)		ATCCATGGGATTCGGGCAAGA	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.(8638-8640)Ttc>Ctc		FRAS1 related extracellular matrix protein 2							359	322	334					13																	39451347		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39451347T>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.8638T>C	13.37:g.39451347T>C	ENSP00000280481:p.Phe2880Leu		Somatic					p.F2880L	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	8854	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2880					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.8638T>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.759067	0.49468	.	.	ENSG00000150893	ENST00000280481	T	0.65364	-0.15	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	M	0.66939	2.045	0.80722	D	1	B	0.27951	0.195	B	0.29267	0.1	T	0.57688	-0.7768	10	0.10902	T	0.67	.	16.3593	0.83251	0.0:0.0:0.0:1.0	.	2880	Q5SZK8	FREM2_HUMAN	L	2880	ENSP00000280481:F2880L	ENSP00000280481:F2880L	F	+	1	0	FREM2	38349347	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.267000	0.75376	0.383000	0.25322	TTC		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		80	94	0	0	0	1	0	80	94					C	39451347	T	C	39451347	3	2	20	1	0	0	0	0	1	0	0	0	6053	1493	52	4	8720	4	FREM2	13	39451347	Missense_Mutation	SNP	T	TCGA-N6-A4VG-01A-31D-A28R-08	7115468	39451347	75718531	39	1402										
TP53	7157	broad.mit.edu	37	chr17	7578290	7578290	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	atgctgaggaggggccagacCtaagagcaatcagtgaggaa	15	7	1	4			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:7578290C>T	ENST00000269305.4	-	6	749		c.e6-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_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.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	GGGGCCAGACCTAAGAGCAAT	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"		54	Unknown(40)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	p.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)	upper_aerodigestive_tract(11)|lung(9)|large_intestine(6)|central_nervous_system(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|oesophagus(2)|breast(2)|stomach(1)|genital_tract(1)|eye(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	CD043957|CS011574|CS083991	TP53	D|S		c.e6-1	Other conserved DNA damage response genes	tumor protein p53							82	74	76					17																	7578290		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.chr17:7578290C>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.560-1G>A	17.37:g.7578290C>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_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_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)	6	692	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.113	1.007143	0.19199	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.89	0.79291	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519015	1.000000	0.71417	0.995000	0.50966	0.031000	0.12232	3.449000	0.52950	2.539000	0.85634	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	30	4	0	0	0	1	0	30	4					T	7578290	C	T	7578290	5	4	20	1	0	0	0	0	0	0	1	0	16396	695	24	3	735	3	TP53	17	7578290	Splice_Site	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08		7578290	73616920	40	1403										
DNAH2	146754	broad.mit.edu	37	chr17	7702525	7702525	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	gtgcagaacaacctgcacatCgtgctctgcctcagccccat	8	16	2	1			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:7702525C>T	ENST00000572933.1	+	56	10124	c.8664C>T	c.(8662-8664)atC>atT	p.I2888I	DNAH2_ENST00000389173.2_Silent_p.I2888I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2888	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.I2888I(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)				ACCTGCACATCGTGCTCTGCC	0.592																																						ENST00000572933.1																			1	Substitution - coding silent(1)	p.I2888I(1)	large_intestine(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.(8662-8664)atC>atT		dynein, axonemal, heavy chain 2							109	87	95					17																	7702525		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.chr17:7702525C>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.8664C>T	17.37:g.7702525C>T			Somatic				DNAH2_ENST00000389173.2_Silent_p.I2888I	p.I2888I			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			56	10124	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2888			AAA 4 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.8664C>T	CCDS32551.1																																																																																				0.592	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		38	2	0	0	0	1	0	38	2					T	7702525	C	T	7702525	2	4	20	1	0	0	0	0	0	0	0	1	4604	874	31	1		1	DNAH2	17	7702525	Silent	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08	124235	7702525	73492685	41	1404										
SDF2	6388	broad.mit.edu	37	chr17	26976153	26976153	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	gataggtcgaccatattgttCtcctgtgacagacagcagta	10	9	1	2			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:26976153C>T	ENST00000247020.4	-	3	788	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	164	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				protein glycosylation (GO:0006486)|protein O-linked mannosylation (GO:0035269)	extracellular space (GO:0005615)|membrane (GO:0016020)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					CCATATTGTTCTCCTGTGACA	0.507																																						ENST00000247020.4																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(490-492)Gaa>Aaa		stromal cell-derived factor 2							204	170	182					17																	26976153		2203	4300	6503	SO:0001583	missense	6388				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity	g.chr17:26976153C>T	BC001406	CCDS11238.1	17q11.2	2004-02-16			ENSG00000132581	ENSG00000132581			10675	protein-coding gene	gene with protein product		602934				8918255	Standard	NR_045585		Approved		uc002hbw.3	Q99470	OTTHUMG00000132681	ENST00000247020.4:c.490G>A	17.37:g.26976153C>T	ENSP00000247020:p.Glu164Lys		Somatic				SDF2_ENST00000592250.1_5'UTR	p.E164K	NM_006923.3	NP_008854.2	WXS	Illumina GAIIx	Phase_I	Q99470	SDF2_HUMAN			3	788	-	Lung NSC(42;0.00431)		164			MIR 3.		Q9BQ79	Missense_Mutation	SNP	ENST00000247020.4	37	c.490G>A	CCDS11238.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261438	0.80358	.	.	ENSG00000132581	ENST00000247020	D	0.86497	-2.13	5.64	5.64	0.86602	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	T	0.81216	0.4776	N	0.17872	0.535	0.80722	D	1	B	0.27594	0.182	B	0.37091	0.241	T	0.74179	-0.3749	10	0.02654	T	1	-16.3408	20.1418	0.98058	0.0:1.0:0.0:0.0	.	164	Q99470	SDF2_HUMAN	K	164	ENSP00000247020:E164K	ENSP00000247020:E164K	E	-	1	0	SDF2	24000280	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.435000	0.80391	2.831000	0.97527	0.644000	0.83932	GAA		0.507	SDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255965.2	NM_006923		18	52	0	0	0	1	0	18	52					T	26976153	C	T	26976153	3	4	20	1	0	0	0	0	1	0	0	0	13975	922	32	3	149	3	SDF2	17	26976153	Missense_Mutation	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08	19273628	26976153	54219057	42	1405										
CNTNAP1	8506	broad.mit.edu	37	chr17	40847636	40847636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	ttctcccacatgctgagccgGccagtgccaggctatgagcc	11	15	1	2			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:40847636G>A	ENST00000264638.4	+	19	3307	c.3090G>A	c.(3088-3090)cgG>cgA	p.R1030R	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1030					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)		TGCTGAGCCGGCCAGTGCCAG	0.622																																						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.(3088-3090)cgG>cgA		contactin associated protein 1							46	47	47					17																	40847636		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.chr17:40847636G>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.3090G>A	17.37:g.40847636G>A			Somatic				CTD-3193K9.3_ENST00000592440.1_RNA	p.R1030R	NM_003632.2	NP_003623.1	WXS	Illumina GAIIx	Phase_I	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	19	3307	+		Breast(137;0.000143)	1030						Silent	SNP	ENST00000264638.4	37	c.3090G>A	CCDS11436.1																																																																																				0.622	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		6	57	0	0	0	1	0	6	57					A	40847636	G	A	40847636	2	1	20	1	0	0	0	0	0	0	0	1	3648	1190	42	3		3	CNTNAP1	17	40847636	Silent	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	13871483	40847636	40347574	43	1406										
BZRAP1	9256	broad.mit.edu	37	chr17	56382951	56382951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	ggggttgtagtcaaatgcagCcaccatggagtggggagctt	16	7	1	0			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:56382951C>T	ENST00000343736.4	-	28	5474	c.5311G>A	c.(5311-5313)Gct>Act	p.A1771T	BZRAP1_ENST00000355701.3_Missense_Mutation_p.A1771T|BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1711T			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1771	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAAATGCAGCCACCATGGAG	0.602																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(5311-5313)Gct>Act		benzodiazapine receptor (peripheral) associated protein 1							22	27	26					17																	56382951		2203	4298	6501	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56382951C>T	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.5311G>A	17.37:g.56382951C>T	ENSP00000345824:p.Ala1771Thr		Somatic				BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1711T|BZRAP1_ENST00000343736.4_Missense_Mutation_p.A1771T	p.A1771T	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	WXS	Illumina GAIIx	Phase_I	O95153	RIMB1_HUMAN			28	6181	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1771			SH3 3.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.5311G>A	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475219	0.63737	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.55413	0.52;0.52;0.52	5.29	5.29	0.74685	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.79040	0.4379	M	0.91354	3.2	0.54753	D	0.999986	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.84155	0.0425	10	0.87932	D	0	.	17.5178	0.87779	0.0:1.0:0.0:0.0	.	1762;1711;1771	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	T	1771;1771;1711	ENSP00000347929:A1771T;ENSP00000345824:A1771T;ENSP00000268893:A1711T	ENSP00000268893:A1711T	A	-	1	0	BZRAP1	53737950	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.045000	0.76585	2.470000	0.83445	0.462000	0.41574	GCT		0.602	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		10	7	0	0	0	1	0	10	7					T	56382951	C	T	56382951	3	4	20	1	0	0	0	0	1	0	0	0	1579	739	26	3	278	3	BZRAP1	17	56382951	Missense_Mutation	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08	15535315	56382951	24812259	44	1407										
REXO1	57455	broad.mit.edu	37	chr19	1828425	1828425	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	gccagggcgggggcctcggcGgagcggtgctcacgggtcgt	21	12	1	0			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:1828425G>A	ENST00000170168.4	-	2	457	c.363C>T	c.(361-363)tcC>tcT	p.S121S	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	121						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		gggccTCGGCGGAGCGGTGCT	0.731																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(361-363)tcC>tcT		REX1, RNA exonuclease 1 homolog (S. cerevisiae)							11	13	12					19																	1828425		2190	4262	6452	SO:0001819	synonymous_variant	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1828425G>A	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.363C>T	19.37:g.1828425G>A			Somatic				REXO1_ENST00000587524.1_5'UTR	p.S121S	NM_020695.3	NP_065746.3	WXS	Illumina GAIIx	Phase_I	Q8N1G1	REXO1_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	457	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	121					Q9ULT2	Silent	SNP	ENST00000170168.4	37	c.363C>T	CCDS32866.1																																																																																				0.731	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		18	2	0	0	0	1	0	18	2					A	1828425	G	A	1828425	2	1	20	1	0	0	0	0	0	0	0	1	13256	1103	39	1		1	REXO1	19	1828425	Silent	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08		1828425	57300558	45	1408										
LRP3	4037	broad.mit.edu	37	chr19	33696691	33696691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	ggcccgtgagcctggaggccGcccagggccgcctcactgtg	16	16	1	1			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:33696691G>A	ENST00000253193.7	+	5	1217	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	339	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CCTGGAGGCCGCCCAGGGCCG	0.711																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(1015-1017)Gcc>Acc		low density lipoprotein receptor-related protein 3							5	8	7					19																	33696691		2016	3919	5935	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33696691G>A	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1015G>A	19.37:g.33696691G>A	ENSP00000253193:p.Ala339Thr		Somatic					p.A339T	NM_002333.3	NP_002324.2	WXS	Illumina GAIIx	Phase_I	O75074	LRP3_HUMAN			5	1217	+	Esophageal squamous(110;0.137)		339			CUB 2.		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.1015G>A	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	6.715	0.500649	0.12822	.	.	ENSG00000130881	ENST00000431491;ENST00000253193	T	0.16743	2.32	5.02	1.44	0.22558	CUB (5);	0.369825	0.28052	N	0.016786	T	0.03477	0.0100	N	0.01228	-0.945	0.09310	N	1	B;B;B	0.29115	0.233;0.054;0.233	B;B;B	0.17722	0.019;0.013;0.019	T	0.40327	-0.9569	10	0.20046	T	0.44	-28.9897	2.5069	0.04647	0.0951:0.259:0.3918:0.2541	.	213;339;257	C9J8W0;O75074;B7ZAJ9	.;LRP3_HUMAN;.	T	213;339	ENSP00000253193:A339T	ENSP00000253193:A339T	A	+	1	0	LRP3	38388531	0.976000	0.34144	0.978000	0.43139	0.593000	0.36681	2.207000	0.42788	2.341000	0.79615	0.313000	0.20887	GCC		0.711	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			3	14	0	0	0	1	0	3	14					A	33696691	G	A	33696691	3	1	20	1	0	0	0	0	1	0	0	0	8967	1087	38	1	1033	1	LRP3	19	33696691	Missense_Mutation	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	31868266	33696691	25432292	46	1409										
HNRNPUL1	11100	broad.mit.edu	37	chr19	41808612	41808612	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	tggggacttcctggatgaggTtctgttcattgagctgcagc	14	8	2	2			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:41808612T>G	ENST00000392006.3	+	12	1903	c.1730T>G	c.(1729-1731)gTt>gGt	p.V577G	HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.V488G|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.V477G|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.V577G|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.V477G|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.V463G|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.V477G	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	577	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			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						CTGGATGAGGTTCTGTTCATT	0.547																																						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.(1729-1731)gTt>gGt		heterogeneous nuclear ribonucleoprotein U-like 1							85	82	83					19																	41808612		2203	4299	6502	SO:0001583	missense	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41808612T>G	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.1730T>G	19.37:g.41808612T>G	ENSP00000375863:p.Val577Gly		Somatic				HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.V477G|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.V477G|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.V488G|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.V477G|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.V463G|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.V577G	p.V577G	NM_007040.3	NP_008971.2	WXS	Illumina GAIIx	Phase_I	Q9BUJ2	HNRL1_HUMAN			12	1903	+			577			Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	c.1730T>G	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613431	0.87359	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.63417	-0.04;0.95;0.5;0.51	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.77678	0.4166	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;0.999;1.0;1.0;0.999;0.999;1.0	P;D;D;D;D;D;D	0.91635	0.885;0.993;0.991;0.999;0.973;0.991;0.997	T	0.80410	-0.1394	10	0.87932	D	0	-12.4988	14.3729	0.66854	0.0:0.0:0.0:1.0	.	488;477;577;101;463;577;477	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-5;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;.;HNRL1_HUMAN;.	G	477;577;463;488	ENSP00000340857:V477G;ENSP00000375863:V577G;ENSP00000367460:V463G;ENSP00000263367:V488G	ENSP00000263367:V488G	V	+	2	0	HNRNPUL1	46500452	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.702000	0.68332	2.288000	0.76882	0.482000	0.46254	GTT		0.547	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		37	52	0	0	0	1	0	37	52					G	41808612	T	G	41808612	3	3	20	1	0	0	0	0	1	0	0	0	7283	1725	60	4	1776	4	HNRNPUL1	19	41808612	Missense_Mutation	SNP	T	TCGA-N6-A4VG-01A-31D-A28R-08	8111921	41808612	17320371	47	1410										
ZNF404	342908	broad.mit.edu	37	chr19	44377285	44377285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	gcctctacaaaaggcctttcCacaatccttacaatcataga	4	13	2	1			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:44377285C>T	ENST00000587539.1	-	3	1080	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	ZNF404_ENST00000324394.6_Missense_Mutation_p.G359R	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	361					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)				AAGGCCTTTCCACAATCCTTA	0.393																																						ENST00000587539.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(1081-1083)Gga>Aga		zinc finger protein 404							42	47	45					19																	44377285		2146	4270	6416	SO:0001583	missense	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44377285C>T	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.1081G>A	19.37:g.44377285C>T	ENSP00000466051:p.Gly361Arg		Somatic				ZNF404_ENST00000324394.6_Missense_Mutation_p.G359R	p.G361R	NM_001033719.2	NP_001028891.2	WXS	Illumina GAIIx	Phase_I	Q494X3	ZN404_HUMAN			3	1080	-		Prostate(69;0.0352)	361					A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	37	c.1081G>A	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917609	0.33815	.	.	ENSG00000176222	ENST00000324394	T	0.21361	2.01	2.42	1.35	0.21983	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43678	0.1258	M	0.81179	2.53	0.23751	N	0.996949	D	0.89917	1.0	D	0.74348	0.983	T	0.15780	-1.0425	9	0.87932	D	0	.	7.9265	0.29878	0.0:0.8648:0.0:0.1352	.	361	Q494X3	ZN404_HUMAN	R	359	ENSP00000319479:G359R	ENSP00000319479:G359R	G	-	1	0	ZNF404	49069125	0.069000	0.21087	0.797000	0.32132	0.415000	0.31203	2.043000	0.41231	0.338000	0.23692	0.404000	0.27445	GGA		0.393	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		17	14	0	0	0	1	0	17	14					T	44377285	C	T	44377285	3	4	20	1	0	0	0	0	1	0	0	0	17901	603	21	3	581	3	ZNF404	19	44377285	Missense_Mutation	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08	2568673	44377285	14751698	48	1411										
SLC8A2	6543	broad.mit.edu	37	chr19	47935656	47935656	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	atcacgtagtcaaagcacgaCggcagccgctcctcccggga	11	15	2	0	rs144930504		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:47935656C>T	ENST00000236877.6	-	9	2552	c.2157G>A	c.(2155-2157)ccG>ccA	p.P719P	SLC8A2_ENST00000601757.1_5'Flank|SLC8A2_ENST00000542837.1_Silent_p.P475P|SLC8A2_ENST00000539381.1_Silent_p.P182P	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	719					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAAAGCACGACGGCAGCCGCT	0.637													.|||	1	0.000199681	8e-04	0	5008	,	,		15943	0		0	False		,,,				2504	0					ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2155-2157)ccG>ccA		solute carrier family 8 (sodium/calcium exchanger), member 2		C		4,4402	8.1+/-20.4	0,4,2199	74	72	73		2157	-8.5	0.1	19	dbSNP_134	73	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC8A2	NM_015063.2		0,6,6497	TT,TC,CC		0.0233,0.0908,0.0461		719/922	47935656	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935656C>T	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2157G>A	19.37:g.47935656C>T			Somatic				SLC8A2_ENST00000539381.1_Silent_p.P182P|SLC8A2_ENST00000542837.1_Silent_p.P475P	p.P719P	NM_015063.2	NP_055878.1	WXS	Illumina GAIIx	Phase_I	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2552	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	719					B4DYQ9	Silent	SNP	ENST00000236877.6	37	c.2157G>A	CCDS33065.1																																																																																				0.637	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			40	73	0	0	0	1	0	40	73					T	47935656	C	T	47935656	2	4	20	1	0	0	0	0	0	0	0	1	14722	523	19	1		1	SLC8A2	19	47935656	Silent	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08	3558371	47935656	11193327	49	1412										
FASTKD5	60493	broad.mit.edu	37	chr20	3127481	3127481	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	caacttttctaagcgagttcGtttcagtagtgggagccatt	10	8	2	0	rs536166513		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:3127481G>C	ENST00000380266.3	-	2	2557	c.2236C>G	c.(2236-2238)Cga>Gga	p.R746G	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	746	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				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						AAGCGAGTTCGTTTCAGTAGT	0.488																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(2236-2238)Cga>Gga		FAST kinase domains 5							119	117	118					20																	3127481		2203	4300	6503	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3127481G>C	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.2236C>G	20.37:g.3127481G>C	ENSP00000369618:p.Arg746Gly		Somatic				UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	p.R746G	NM_021826.4	NP_068598.1	WXS	Illumina GAIIx	Phase_I	Q7L8L6	FAKD5_HUMAN			2	2557	-			746			RAP.		Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.2236C>G	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032485	0.54790	.	.	ENSG00000215251	ENST00000380266	T	0.16897	2.31	5.83	3.83	0.44106	RAP domain (3);	0.134024	0.31784	N	0.007079	T	0.36826	0.0981	M	0.63428	1.95	0.40713	D	0.982597	D	0.63880	0.993	D	0.64144	0.922	T	0.22521	-1.0214	10	0.66056	D	0.02	.	15.0126	0.71560	0.0:0.0:0.733:0.267	.	746	Q7L8L6	FAKD5_HUMAN	G	746	ENSP00000369618:R746G	ENSP00000369618:R746G	R	-	1	2	FASTKD5	3075481	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.439000	0.44846	0.748000	0.32831	0.655000	0.94253	CGA		0.488	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		35	83	0	0	0	1	0	35	83					C	3127481	G	C	3127481	3	2	20	1	0	0	0	0	1	0	0	0	5696	1153	40	5	62	5	FASTKD5	20	3127481	Missense_Mutation	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08		3127481	59898039	50	1413										
FOXA2	3170	broad.mit.edu	37	chr20	22563198	22563198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	gccgggcttgtcgggcgagcGgggcaccttcaggaaacagt	17	11	1	0			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:22563198G>A	ENST00000377115.4	-	3	845	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	FOXA2_ENST00000419308.2_Missense_Mutation_p.R228C	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	222					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TCGGGCGAGCGGGGCACCTTC	0.627																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(664-666)Cgc>Tgc		forkhead box A2							40	44	43					20																	22563198		2203	4300	6503	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563198G>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.664C>T	20.37:g.22563198G>A	ENSP00000366319:p.Arg222Cys		Somatic				FOXA2_ENST00000377115.4_Missense_Mutation_p.R222C|FOXA2_ENST00000319993.4_Missense_Mutation_p.R228C	p.R222C	NM_021784.4	NP_068556.2	WXS	Illumina GAIIx	Phase_I	Q9Y261	FOXA2_HUMAN			2	866	-	Lung NSC(19;0.188)		222					Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.664C>T	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964177	0.53507	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.96774	-4.12;-4.12;-4.12	4.98	3.99	0.46301	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.56097	U	0.000037	D	0.98782	0.9590	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98604	1.0660	10	0.87932	D	0	.	12.2485	0.54585	0.0:0.0:0.695:0.305	.	222;228	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	C	222;222;228;108	ENSP00000366319:R222C;ENSP00000400341:R222C;ENSP00000315955:R228C	ENSP00000315955:R228C	R	-	1	0	FOXA2	22511198	1.000000	0.71417	0.998000	0.56505	0.800000	0.45204	3.385000	0.52485	2.304000	0.77564	0.574000	0.79327	CGC		0.627	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			53	36	0	0	0	1	0	53	36					A	22563198	G	A	22563198	3	1	20	1	0	0	0	0	1	0	0	0	5998	1116	39	1	713	1	FOXA2	20	22563198	Missense_Mutation	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	19435717	22563198	40462322	51	1414										
TGIF2	60436	broad.mit.edu	37	chr20	35207242	35207242	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	ggcgggcaaaaggaagcgcaGggggaacctgcccaaggagt	18	9	0	0			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:35207242G>C	ENST00000373874.2	+	2	264	c.65G>C	c.(64-66)aGg>aCg	p.R22T	TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R22T|RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.R22T	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	22					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)				AGGAAGCGCAGGGGGAACCTG	0.602																																						ENST00000373874.2																			0				cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14						c.(64-66)aGg>aCg		TGFB-induced factor homeobox 2							117	106	110					20																	35207242		2203	4300	6503	SO:0001583	missense	60436					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:35207242G>C	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.65G>C	20.37:g.35207242G>C	ENSP00000362981:p.Arg22Thr		Somatic				TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R22T|RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.R22T	p.R22T	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	WXS	Illumina GAIIx	Phase_I	Q9GZN2	TGIF2_HUMAN			2	264	+	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)	22					B2R9U3|E1P5T9|H0YNI0	Missense_Mutation	SNP	ENST00000373874.2	37	c.65G>C	CCDS13278.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709828	0.89018	.	.	ENSG00000118707	ENST00000373874;ENST00000373872	D;D	0.88975	-2.45;-2.45	5.01	5.01	0.66863	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.90577	0.7046	L	0.29908	0.895	0.27494	N	0.95219	D	0.71674	0.998	D	0.69307	0.963	D	0.85848	0.1402	10	0.72032	D	0.01	-14.0433	15.8254	0.78703	0.0:0.0:1.0:0.0	.	22	Q9GZN2	TGIF2_HUMAN	T	22	ENSP00000362981:R22T;ENSP00000362979:R22T	ENSP00000362979:R22T	R	+	2	0	TGIF2	34640656	1.000000	0.71417	0.997000	0.53966	0.928000	0.56348	9.327000	0.96396	2.316000	0.78162	0.561000	0.74099	AGG		0.602	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079004.2	NM_021809		52	123	0	0	0	1	0	52	123					C	35207242	G	C	35207242	3	2	20	1	0	0	0	0	1	0	0	0	15841	1000	35	5	67	5	TGIF2	20	35207242	Missense_Mutation	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	12644044	35207242	27818278	52	1415										
RPN2	6185	broad.mit.edu	37	chr20	35862430	35862430	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	ccccatcattcagtggatccGgattggtgccaatgtctcca	9	13	3	0	rs200070240		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:35862430G>T	ENST00000237530.6	+	15	1996	c.1685G>T	c.(1684-1686)cGg>cTg	p.R562L	RPN2_ENST00000373622.5_Missense_Mutation_p.R530L|RPN2_ENST00000470352.1_3'UTR	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	562					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CAGTGGATCCGGATTGGTGCC	0.448																																						ENST00000237530.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.(1684-1686)cGg>cTg		ribophorin II							170	144	153					20																	35862430		2203	4300	6503	SO:0001583	missense	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35862430G>T	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1685G>T	20.37:g.35862430G>T	ENSP00000237530:p.Arg562Leu		Somatic				RPN2_ENST00000373622.5_Missense_Mutation_p.R530L|RPN2_ENST00000470352.1_3'UTR	p.R562L	NM_002951.3	NP_002942.2	WXS	Illumina GAIIx	Phase_I	P04844	RPN2_HUMAN			15	1996	+		Myeloproliferative disorder(115;0.00878)	562					Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	ENST00000237530.6	37	c.1685G>T	CCDS13291.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034558	0.54896	.	.	ENSG00000118705	ENST00000237530;ENST00000373622;ENST00000397161;ENST00000373623;ENST00000437329	T;T;T	0.52983	0.64;0.64;0.64	5.27	5.27	0.74061	.	0.059531	0.64402	D	0.000005	T	0.34193	0.0889	L	0.38175	1.15	0.41102	D	0.985673	B;B	0.28400	0.21;0.059	B;B	0.25140	0.058;0.058	T	0.12091	-1.0561	10	0.21540	T	0.41	-17.8173	9.7476	0.40457	0.0907:0.0:0.9093:0.0	.	530;562	Q5JYR6;P04844	.;RPN2_HUMAN	L	562;530;69;86;69	ENSP00000237530:R562L;ENSP00000362724:R530L;ENSP00000409580:R69L	ENSP00000237530:R562L	R	+	2	0	RPN2	35295844	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.746000	0.74866	2.735000	0.93741	0.655000	0.94253	CGG		0.448	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		6	53	1	0	0.00198382	1	0.00203892	6	53					T	35862430	G	T	35862430	3	4	20	1	0	0	0	0	1	0	0	0	13623	1116	39	5	1743	5	RPN2	20	35862430	Missense_Mutation	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	655188	35862430	27163090	53	1416										
SLC12A5	57468	broad.mit.edu	37	chr20	44682317	44682317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	cacatttctgtatcatttacGcatcactgcggaggtcgagg	10	10	3	0			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:44682317G>A	ENST00000454036.2	+	20	2766	c.2717G>A	c.(2716-2718)cGc>cAc	p.R906H	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R883H	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	906					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)	p.R883H(1)		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)	TATCATTTACGCATCACTGCG	0.547																																						ENST00000454036.1																			1	Substitution - Missense(1)	p.R883H(1)	lung(1)	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.(2716-2718)cGc>cAc		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						225	188	201					20																	44682317		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44682317G>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.2717G>A	20.37:g.44682317G>A	ENSP00000387694:p.Arg906His		Somatic				SLC12A5_ENST00000243964.3_Missense_Mutation_p.R883H	p.R906H	NM_001134771.1	NP_001128243.1	WXS	Illumina GAIIx	Phase_I	Q9H2X9	S12A5_HUMAN			20	2793	+		Myeloproliferative disorder(115;0.0122)	906					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.2717G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107584	0.77096	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.85013	-1.93;-1.93	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	D	0.89051	0.6605	M	0.88181	2.935	0.80722	D	1	P;D	0.53619	0.935;0.961	B;P	0.45913	0.42;0.497	D	0.91990	0.5602	10	0.87932	D	0	.	15.7924	0.78376	0.0:0.0:1.0:0.0	.	906;883	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	H	906;883	ENSP00000387694:R906H;ENSP00000243964:R883H	ENSP00000243964:R883H	R	+	2	0	SLC12A5	44115724	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	9.541000	0.98083	2.192000	0.70111	0.491000	0.48974	CGC		0.547	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			63	116	0	0	0	1	0	63	116					A	44682317	G	A	44682317	3	1	20	1	0	0	0	0	1	0	0	0	14401	1087	38	1	2851	1	SLC12A5	20	44682317	Missense_Mutation	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	8819887	44682317	18343203	54	1417										
YTHDF1	54915	broad.mit.edu	37	chr20	61835075	61835075	+	Frame_Shift_Del	DEL	C	C	-													0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	ccctgcagtagaccacggagCctcattgagggagtaaggaa							TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:61835075delC	ENST00000370339.3	-	4	558	c.217delG	c.(217-219)gctfs	p.A73fs	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Frame_Shift_Del_p.A23fs	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	73							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GACCACGGAGCCTCATTGAGG	0.517																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(217-219)ctfs		YTH domain family, member 1							92	99	97					20																	61835075		2203	4300	6503	SO:0001589	frameshift_variant	54915							g.chr20:61835075delC	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.217delG	20.37:g.61835075delC	ENSP00000359364:p.Ala73fs		Somatic				YTHDF1_ENST00000370333.4_Frame_Shift_Del_p.A23fs|YTHDF1_ENST00000370334.4_Intron	p.A73fs	NM_017798.3	NP_060268.2	WXS	Illumina GAIIx	Phase_I	Q9BYJ9	YTHD1_HUMAN			4	558	-			73					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Frame_Shift_Del	DEL	ENST00000370339.3	37	c.217delG	CCDS13511.1																																																																																				0.517	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		44	93						44	93	---	---	---	---	-	61835075	C	-	61835075	7	5	20	1	0	1	0	1	0	0	0	0	17513	739	26	0	1470	0	YTHDF1	20	61835075	Frame_Shift_Del	DEL	C	TCGA-N6-A4VG-01A-31D-A28R-08	17152758	61835075	1190445	55	1418										
ZNF512B	57473	broad.mit.edu	37	chr20	62598842	62598842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	aagcagagaggggcctggccGggcactgtctgtccaccacg	15	13	1	1			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:62598842G>A	ENST00000450537.1	-	3	216	c.156C>T	c.(154-156)ccC>ccT	p.P52P	ZNF512B_ENST00000369888.1_Silent_p.P52P|ZNF512B_ENST00000217130.3_Silent_p.P52P			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	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)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGGCCTGGCCGGGCACTGTCT	0.637																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(154-156)ccC>ccT		zinc finger protein 512B							90	96	94					20																	62598842		2203	4300	6503	SO:0001819	synonymous_variant	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62598842G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.156C>T	20.37:g.62598842G>A			Somatic				ZNF512B_ENST00000369888.1_Silent_p.P52P|ZNF512B_ENST00000217130.3_Silent_p.P52P	p.P52P			WXS	Illumina GAIIx	Phase_I	Q96KM6	Z512B_HUMAN			3	216	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		52					Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	c.156C>T	CCDS13548.1																																																																																				0.637	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		119	104	0	0	0	1	0	119	104					A	62598842	G	A	62598842	2	1	20	1	0	0	0	0	0	0	0	1	17972	1103	39	1		1	ZNF512B	20	62598842	Silent	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	763767	62598842	426678	56	1419										
TPTE	7179	broad.mit.edu	37	chr21	10969073	10969073	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	tcttcatgtatttataactcAcctttcactgataggtgaca	5	9	4	2			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr21:10969073A>T	ENST00000361285.4	-	7	503		c.e7+1		TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTATAACTCACCTTTCACTG	0.428																																						ENST00000361285.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e7+1		transmembrane phosphatase with tensin homology							238	221	227					21																	10969073		2203	4300	6503	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10969073A>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.173+1T>A	21.37:g.10969073A>T			Somatic				TPTE_ENST00000342420.5_Intron|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Intron		NM_199261.2	NP_954870.2	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)	7	503	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37		CCDS13560.2	.	.	.	.	.	.	.	.	.	.	a	2.579	-0.297841	0.05532	.	.	ENSG00000166157	ENST00000361285;ENST00000328758	.	.	.	0.687	0.687	0.18020	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	-	.	.	TPTE	9990944	0.002000	0.14202	0.004000	0.12327	0.004000	0.04260	1.827000	0.39102	0.559000	0.29153	0.414000	0.27820	.		0.428	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Intron	17	77	0	0	0	1	0	17	77					T	10969073	A	T	10969073	5	4	20	1	0	0	0	0	0	0	1	0	16445	173	6	4	1552	4	TPTE	21	10969073	Splice_Site	SNP	A	TCGA-N6-A4VG-01A-31D-A28R-08		10969073	37160822	57	1420										
GRIK1	2897	broad.mit.edu	37	chr21	31045468	31045468	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	gagggagctttgatgagctcTtgtagacgaattagacctag	13	6	1	4			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr21:31045468T>C	ENST00000399907.1	-	4	972	c.561A>G	c.(559-561)caA>caG	p.Q187Q	GRIK1_ENST00000389125.3_Silent_p.Q187Q|GRIK1_ENST00000327783.4_Silent_p.Q187Q|GRIK1_ENST00000535441.1_Silent_p.Q187Q|GRIK1_ENST00000399913.1_Silent_p.Q187Q|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Silent_p.Q187Q|GRIK1_ENST00000399914.1_Silent_p.Q187Q|GRIK1_ENST00000389124.2_Silent_p.Q187Q|GRIK1_ENST00000309434.7_Silent_p.Q187Q	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	187					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TGATGAGCTCTTGTAGACGAA	0.393																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(559-561)caA>caG		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						72	74	73					21																	31045468		2203	4300	6503	SO:0001819	synonymous_variant	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31045468T>C		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.561A>G	21.37:g.31045468T>C			Somatic				GRIK1_ENST00000399907.1_Silent_p.Q187Q|GRIK1_ENST00000389124.2_Silent_p.Q187Q|GRIK1_ENST00000389125.3_Silent_p.Q187Q|GRIK1_ENST00000399909.1_Silent_p.Q187Q|GRIK1_ENST00000535441.1_Silent_p.Q187Q|GRIK1_ENST00000327783.4_Silent_p.Q187Q|GRIK1_ENST00000309434.7_Silent_p.Q187Q|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Silent_p.Q187Q	p.Q187Q			WXS	Illumina GAIIx	Phase_I	P39086	GRIK1_HUMAN			4	1082	-			187					Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	c.561A>G	CCDS42913.1																																																																																				0.393	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			11	26	0	0	0	1	0	11	26					C	31045468	T	C	31045468	2	2	20	1	0	0	0	0	0	0	0	1	6782	1606	56	4		4	GRIK1	21	31045468	Silent	SNP	T	TCGA-N6-A4VG-01A-31D-A28R-08	20076395	31045468	17084427	58	1421										
SGSM1	129049	broad.mit.edu	37	chr22	25251535	25251535	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	gatccagaagaggcattccaGtggcagcatggatgaccggc	14	10	0	3			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr22:25251535G>T	ENST00000400359.4	+	8	696	c.689G>T	c.(688-690)aGt>aTt	p.S230I	SGSM1_ENST00000400358.4_Missense_Mutation_p.S230I	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	230						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						AGGCATTCCAGTGGCAGCATG	0.572																																						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.(688-690)aGt>aTt		small G protein signaling modulator 1							51	58	56					22																	25251535		2042	4177	6219	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25251535G>T	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.689G>T	22.37:g.25251535G>T	ENSP00000383212:p.Ser230Ile		Somatic				SGSM1_ENST00000400359.4_Missense_Mutation_p.S230I	p.S230I	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	WXS	Illumina GAIIx	Phase_I	Q2NKQ1	SGSM1_HUMAN			8	746	+			230					A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.689G>T	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756458	0.69648	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.10005	2.93;2.92	4.05	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	L	0.29908	0.895	0.80722	D	1	P;D;D;D;D	0.76494	0.899;0.995;0.997;0.999;0.99	P;D;D;D;D	0.83275	0.466;0.979;0.963;0.996;0.944	T	0.03750	-1.1007	10	0.87932	D	0	-0.4065	15.5962	0.76583	0.0:0.0:1.0:0.0	.	230;205;363;230;205	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	I	205;230;230	ENSP00000383211:S230I;ENSP00000383212:S230I	ENSP00000383211:S230I	S	+	2	0	SGSM1	23581535	1.000000	0.71417	0.926000	0.36857	0.780000	0.44128	9.740000	0.98839	1.982000	0.57802	0.478000	0.44815	AGT		0.572	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		4	45	1	0	0.217242	1	0.217242	4	45					T	25251535	G	T	25251535	3	4	20	1	0	0	0	0	1	0	0	0	14237	1029	36	5	719	5	SGSM1	22	25251535	Missense_Mutation	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08		25251535	26053031	59	1422										
MEI1	150365	broad.mit.edu	37	chr22	42128268	42128268	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	gggatcgaggcagtggtgagGagcctgcagggaagcctgaa	19	7	0	2			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr22:42128268G>A	ENST00000401548.3	+	10	1156	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Silent_p.R112R	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGTGGTGAGGAGCCTGCAGG	0.557																																						ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1114-1116)agG>agA		meiosis inhibitor 1							54	59	58					22																	42128268		2080	4210	6290	SO:0001819	synonymous_variant	150365						binding	g.chr22:42128268G>A	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1116G>A	22.37:g.42128268G>A			Somatic				MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Silent_p.R112R|MEI1_ENST00000300398.4_5'UTR	p.R372R	NM_152513.3	NP_689726.3	WXS	Illumina GAIIx	Phase_I	Q5TIA1	MEI1_HUMAN			10	1156	+			372						Silent	SNP	ENST00000401548.3	37	c.1116G>A	CCDS46718.1																																																																																				0.557	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		11	1	0	0	0	1	0	11	1					A	42128268	G	A	42128268	2	1	20	1	0	0	0	0	0	0	0	1	9474	1165	41	3		3	MEI1	22	42128268	Silent	SNP	G	TCGA-N6-A4VG-01A-31D-A28R-08	16876733	42128268	9176298	60	1423										
SSX7	280658	broad.mit.edu	37	chrX	52677447	52677447	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	gctggcttcttgggcatgatCtttataatgtgaaggtcaca	11	7	3	2			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chrX:52677447C>G	ENST00000298181.5	-	6	489		c.e6-1			NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TGGGCATGATCTTTATAATGT	0.438																																						ENST00000298181.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16						c.e6-1		synovial sarcoma, X breakpoint 7							177	170	172					X																	52677447		2203	4297	6500	SO:0001630	splice_region_variant	280658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:52677447C>G	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.331-1G>C	X.37:g.52677447C>G			Somatic						NM_173358.2	NP_775494.1	WXS	Illumina GAIIx	Phase_I	Q7RTT5	SSX7_HUMAN			6	489	-	Ovarian(276;0.236)								Splice_Site	SNP	ENST00000298181.5	37		CCDS14343.1	.	.	.	.	.	.	.	.	.	.	.	2.853	-0.237879	0.05944	.	.	ENSG00000187754	ENST00000298181	.	.	.	0.56	0.56	0.17279	.	.	.	.	.	.	.	.	.	.	.	0.21020	N	0.999803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	-	.	.	SSX7	52694172	0.009000	0.17119	0.037000	0.18230	0.112000	0.19704	1.214000	0.32419	0.518000	0.28383	0.174000	0.16983	.		0.438	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358	Intron	67	33	0	0	0	1	0	67	33					G	52677447	C	G	52677447	5	3	20	1	0	0	0	0	0	0	1	0	15224	927	32	2	244	2	SSX7	23	52677447	Splice_Site	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08		52677447	102593113	61	1424										
TAF1	6872	broad.mit.edu	37	chrX	70621556	70621556	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0819672131147541	5	1	1.03858575556689	1.7078965758211	0.823450134770889	1	1	0	acttatcaaggttgaagggaCcaaaattgtcttggggaaac	11	6	2	1			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chrX:70621556C>A	ENST00000373790.4	+	25	4013	c.3962C>A	c.(3961-3963)aCc>aAc	p.T1321N	TAF1_ENST00000423759.1_Missense_Mutation_p.T1342N|TAF1_ENST00000449580.1_Missense_Mutation_p.T1321N|TAF1_ENST00000276072.3_Missense_Mutation_p.T1342N	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	1321					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)				GTTGAAGGGACCAAAATTGTC	0.433																																						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.(3961-3963)aCc>aAc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							116	105	109					X																	70621556		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:70621556C>A		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.3962C>A	X.37:g.70621556C>A	ENSP00000362895:p.Thr1321Asn		Somatic				TAF1_ENST00000276072.3_Missense_Mutation_p.T1342N|TAF1_ENST00000373790.4_Missense_Mutation_p.T1321N|TAF1_ENST00000423759.1_Missense_Mutation_p.T1342N	p.T1321N			WXS	Illumina GAIIx	Phase_I	P21675	TAF1_HUMAN			25	4013	+	Renal(35;0.156)	all_lung(315;0.000321)	1321					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.3962C>A	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.4|24.4	4.523379|4.523379	0.85600|0.85600	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000483985|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072	.|T;T;T;T	.|0.11063	.|2.82;2.88;2.87;2.81	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.36358|0.36358	0.0964|0.0964	M|M	0.74467|0.74467	2.265|2.265	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;0.983;0.994	T|T	0.11060|0.11060	-1.0603|-1.0603	5|10	.|0.87932	.|D	.|0	.|.	18.6948|18.6948	0.91596|0.91596	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1321;1321;1342	.|P21675-4;P21675;P21675-2	.|.;TAF1_HUMAN;.	T|N	232|1321;1321;1342;27;27;1342	.|ENSP00000362895:T1321N;ENSP00000389000:T1321N;ENSP00000406549:T1342N;ENSP00000276072:T1342N	.|ENSP00000276072:T1342N	P|T	+|+	1|2	0|0	TAF1|TAF1	70538281|70538281	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.484000|7.484000	0.81180|0.81180	2.359000|2.359000	0.80004|0.80004	0.541000|0.541000	0.68203|0.68203	CCA|ACC		0.433	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		26	13	1	0	8.24728e-16	1	9.53592e-16	26	13					A	70621556	C	A	70621556	3	1	20	1	0	0	0	0	1	0	0	0	15528	507	18	5	4123	5	TAF1	23	70621556	Missense_Mutation	SNP	C	TCGA-N6-A4VG-01A-31D-A28R-08	17944109	70621556	84649004	62	1425										
NOC2L	26155	broad.mit.edu	37	chr1	892379	892379	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tccccatcttctccttcctcCgctccatcctcctcctcact	1	23	3	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:892379C>T	ENST00000327044.6	-	4	430	c.381G>A	c.(379-381)gcG>gcA	p.A127A	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	127					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)		CTCCTTCCTCCGCTCCATCCT	0.582																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(379-381)gcG>gcA		nucleolar complex associated 2 homolog (S. cerevisiae)							126	130	129					1																	892379		2203	4300	6503	SO:0001819	synonymous_variant	26155					nucleolus	protein binding	g.chr1:892379C>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.381G>A	1.37:g.892379C>T			Somatic				NOC2L_ENST00000487214.1_5'UTR	p.A127A	NM_015658.3	NP_056473.2	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	430	-	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)	127					Q5SVA3|Q9BTN6	Silent	SNP	ENST00000327044.6	37	c.381G>A	CCDS3.1																																																																																				0.582	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		79	103	0	0	0	1	0	79	103					T	892379	C	T	892379	2	4	21	1	0	0	0	0	0	0	0	1	10522	639	23	1		1	NOC2L	1	892379	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08		892379	248358242	1	1426										
ERRFI1	54206	broad.mit.edu	37	chr1	8074168	8074169	+	Frame_Shift_Del	DEL	AG	AG	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cctcacagtctgtgtcatccAgagagagggcttcagagatt					rs535537176		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:8074168_8074169delAG	ENST00000377482.5	-	4	713_714	c.490_491delCT	c.(490-492)ctgfs	p.L164fs	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	164					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)		TGTGTCATCCAGAGAGAGGGCT	0.475																																						ENST00000377482.5																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16						c.(490-492)gfs		ERBB receptor feedback inhibitor 1																																				SO:0001589	frameshift_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.chr1:8074168_8074169delAG	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.490_491delCT	1.37:g.8074174_8074175delAG	ENSP00000366702:p.Leu164fs		Somatic				ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR	p.L164fs	NM_018948.3	NP_061821.1	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)	4	713_714	-	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)	164					B2RDX9|Q9NTG9|Q9UD05	Frame_Shift_Del	DEL	ENST00000377482.5	37	c.490_491delCT	CCDS94.1																																																																																				0.475	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		53	70						53	70	---	---	---	---	-	8074169	AG	-	8074168	7	5	21	1	0	1	0	1	0	0	0	0	5246	188	7	0	901	0	ERRFI1	1	8074168	Frame_Shift_Del	DEL	AG	TCGA-N7-A4Y0-01A-12D-A28R-08	7181789	8074168	241176453	2	1427										
RERE	473	broad.mit.edu	37	chr1	8416169	8416169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggaagtcttaccgaaaactgGgtggcgaagcatctcgtgct	13	9	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:8416169G>A	ENST00000337907.3	-	22	5111	c.4477C>T	c.(4477-4479)Cca>Tca	p.P1493S	RERE_ENST00000377464.1_Missense_Mutation_p.P1225S|RERE_ENST00000400908.2_Missense_Mutation_p.P1493S|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.P939S	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1493	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P1493T(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CCGAAAACTGGGTGGCGAAGC	0.617																																						ENST00000337907.3																			1	Substitution - Missense(1)	p.P1493T(1)	lung(1)	central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(4477-4479)Cca>Tca		arginine-glutamic acid dipeptide (RE) repeats							116	134	128					1																	8416169		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8416169G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.4477C>T	1.37:g.8416169G>A	ENSP00000338629:p.Pro1493Ser		Somatic				RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P1493S|RERE_ENST00000377464.1_Missense_Mutation_p.P1225S|RERE_ENST00000476556.1_Missense_Mutation_p.P939S	p.P1493S	NM_012102.3	NP_036234.3	WXS	Illumina GAIIx	Phase_I	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	22	5111	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1493			Pro-rich.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.4477C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918718	0.92249	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908;ENST00000505225	T;T;T	0.49139	0.79;0.8;0.79	6.08	6.08	0.98989	.	.	.	.	.	T	0.68659	0.3025	M	0.67953	2.075	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.67051	-0.5768	9	0.56958	D	0.05	-11.7952	19.6516	0.95815	0.0:0.0:1.0:0.0	.	1493	Q9P2R6	RERE_HUMAN	S	1493;1225;939;1493;149	ENSP00000338629:P1493S;ENSP00000366684:P1225S;ENSP00000383700:P1493S	ENSP00000338629:P1493S	P	-	1	0	RERE	8338756	1.000000	0.71417	0.881000	0.34555	0.764000	0.43329	9.807000	0.99171	2.894000	0.99253	0.655000	0.94253	CCA		0.617	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			115	161	0	0	0	1	0	115	161					A	8416169	G	A	8416169	3	1	21	1	0	0	0	0	1	0	0	0	13246	1232	43	3	235	3	RERE	1	8416169	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	342001	8416169	240834452	3	1428										
SPSB1	80176	broad.mit.edu	37	chr1	9416315	9416315	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gggggtggcgacggcagacgCccccctgcactctgtcgggt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:9416315delC	ENST00000328089.6	+	2	706	c.365delC	c.(364-366)gccfs	p.A122fs	SPSB1_ENST00000357898.3_Frame_Shift_Del_p.A122fs|SPSB1_ENST00000377399.2_Frame_Shift_Del_p.A122fs	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	122	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		ACGGCAGACGCCCCCCTGCAC	0.657																																						ENST00000328089.6																			0				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13						c.(364-366)gcfs		splA/ryanodine receptor domain and SOCS box containing 1							44	47	46					1																	9416315		2203	4300	6503	SO:0001589	frameshift_variant	80176				intracellular signal transduction	cytoplasm		g.chr1:9416315delC		CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.365delC	1.37:g.9416315delC	ENSP00000330221:p.Ala122fs		Somatic				SPSB1_ENST00000377399.2_Frame_Shift_Del_p.A122fs|SPSB1_ENST00000357898.3_Frame_Shift_Del_p.A122fs	p.A122fs	NM_025106.3	NP_079382.2	WXS	Illumina GAIIx	Phase_I	Q96BD6	SPSB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)	2	706	+	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	122			B30.2/SPRY.		A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Frame_Shift_Del	DEL	ENST00000328089.6	37	c.365delC	CCDS102.1																																																																																				0.657	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	NM_025106		40	63						40	63	---	---	---	---	-	9416315	C	-	9416315	7	5	21	1	0	1	0	1	0	0	0	0	15127	739	26	0	367	0	SPSB1	1	9416315	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1000146	9416315	239834306	4	1429										
KIF1B	23095	broad.mit.edu	37	chr1	10364532	10364532	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agcgccatattcatcaacacCgtcagtcttactgtaattat	5	11	4	0	rs146807975		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:10364532C>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.R1097C|RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000377093.4_Missense_Mutation_p.R1097C|KIF1B_ENST00000263934.6_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCATCAACACCGTCAGTCTTA	0.507																																						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.(3289-3291)Cgt>Tgt		kinesin family member 1B		C	,CYS/ARG	0,4406		0,0,2203	72	67	69		,3289	5.7	1	1	dbSNP_134	69	2,8598	2.2+/-6.3	0,2,4298	yes	intron,missense	KIF1B	NM_015074.3,NM_183416.3	,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	,1097/1154	10364532	2,13004	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.chr1:10364532C>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+7228C>T	1.37:g.10364532C>T			Somatic				KIF1B_ENST00000377083.1_Missense_Mutation_p.R1097C|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron	p.R1097C	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	3442	+	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.3289C>T		.	.	.	.	.	.	.	.	.	.	C	14.22	2.471285	0.43942	0.0	2.33E-4	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.74947	-0.89;-0.89	5.72	5.72	0.89469	.	.	.	.	.	T	0.76955	0.4060	.	.	.	0.80722	D	1	D	0.63880	0.993	P	0.47705	0.555	T	0.79843	-0.1632	8	0.66056	D	0.02	.	15.3847	0.74687	0.0:0.8614:0.1386:0.0	.	1097	O60333-3	.	C	1097	ENSP00000366297:R1097C;ENSP00000366287:R1097C	ENSP00000366287:R1097C	R	+	1	0	KIF1B	10287119	0.994000	0.37717	0.994000	0.49952	0.937000	0.57800	3.297000	0.51810	2.691000	0.91804	0.655000	0.94253	CGT		0.507	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			39	59	0	0	0	1	0	39	59					T	10364532	C	T	10364532	1	4	21	0	1	0	0	0	0	0	0	0	8293	652	23	1		1	KIF1B	1	10364532	Intron	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	948217	10364532	238886089	5	1430										
DNAJC16	23341	broad.mit.edu	37	chr1	15873320	15873321	+	Frame_Shift_Del	DEL	AT	AT	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcagcaagagaataagcctcAtgtccttctgtttgaccaaa							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:15873320_15873321delAT	ENST00000375847.3	+	6	982_983	c.818_819delAT	c.(817-819)catfs	p.H273fs	DNAJC16_ENST00000375838.1_Frame_Shift_Del_p.H273fs|DNAJC16_ENST00000375849.1_Frame_Shift_Del_p.H273fs	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	273					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)		AATAAGCCTCATGTCCTTCTGT	0.327																																						ENST00000375847.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18						c.(817-819)cfs		DnaJ (Hsp40) homolog, subfamily C, member 16																																				SO:0001589	frameshift_variant	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15873320_15873321delAT	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.818_819delAT	1.37:g.15873320_15873321delAT	ENSP00000365007:p.His273fs		Somatic				DNAJC16_ENST00000375838.1_Frame_Shift_Del_p.H273fs|DNAJC16_ENST00000375849.1_Frame_Shift_Del_p.H273fs	p.H273fs	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)	6	982_983	+		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)	273					Q68D57|Q86X32|Q8N5P4	Frame_Shift_Del	DEL	ENST00000375847.3	37	c.818_819delAT	CCDS30606.1																																																																																				0.327	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		43	83						43	83	---	---	---	---	-	15873321	AT	-	15873320	7	5	21	1	0	1	0	1	0	0	0	0	4637	217	8	0	836	0	DNAJC16	1	15873320	Frame_Shift_Del	DEL	AT	TCGA-N7-A4Y0-01A-12D-A28R-08	5508788	15873320	233377301	6	1431										
EPHA2	1969	broad.mit.edu	37	chr1	16456084	16456084	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctggggagccggatagacacGctgcaacaggaagcactgca	14	11	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:16456084G>A	ENST00000358432.5	-	16	2824	c.2670C>T	c.(2668-2670)cgC>cgT	p.R890R		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	890	Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GGATAGACACGCtgcaacagg	0.652																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.e16-1		EPH receptor A2	Dasatinib(DB01254)						30	30	30					1																	16456084		2203	4300	6503	SO:0001630	splice_region_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16456084G>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2670-1C>T	1.37:g.16456084G>A			Somatic					p.R890_splice	NM_004431.3	NP_004422.2	WXS	Illumina GAIIx	Phase_I	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	16	2824	-		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)	890			Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.		B5A968|Q8N3Z2	Splice_Site	SNP	ENST00000358432.5	37	c.2669_splice	CCDS169.1																																																																																				0.652	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431	Silent	12	28	0	0	0	1	0	12	28					A	16456084	G	A	16456084	5	1	21	1	0	0	0	0	0	0	1	0	5169	1101	38	1	268	1	EPHA2	1	16456084	Splice_Site	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	582764	16456084	232794537	7	1432										
CROCC	9696	broad.mit.edu	37	chr1	17292527	17292527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cccagaccagtgccctgaatCgccagctggccgagatggag	13	14	0	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:17292527C>T	ENST00000375541.5	+	29	4678	c.4609C>T	c.(4609-4611)Cgc>Tgc	p.R1537C		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)		TGCCCTGAATCGCCAGCTGGC	0.637																																						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.(4609-4611)Cgc>Tgc		ciliary rootlet coiled-coil, rootletin							53	51	52					1																	17292527		2203	4300	6503	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.chr1:17292527C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.4609C>T	1.37:g.17292527C>T	ENSP00000364691:p.Arg1537Cys		Somatic					p.R1537C	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)	29	4678	+		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)	1537						Missense_Mutation	SNP	ENST00000375541.5	37	c.4609C>T	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144951	0.37825	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.51574	0.7	4.13	2.16	0.27623	.	.	.	.	.	T	0.49643	0.1569	L	0.44542	1.39	0.28653	N	0.906573	D;D	0.60575	0.988;0.976	P;P	0.54544	0.674;0.755	T	0.42749	-0.9433	9	0.72032	D	0.01	.	7.8219	0.29292	0.0:0.7392:0.164:0.0969	.	840;1537	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	C	1537;1418	ENSP00000364691:R1537C	ENSP00000364691:R1537C	R	+	1	0	CROCC	17165114	0.036000	0.19791	0.001000	0.08648	0.525000	0.34531	2.204000	0.42761	0.424000	0.26061	0.478000	0.44815	CGC		0.637	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		26	38	0	0	0	1	0	26	38					T	17292527	C	T	17292527	3	4	21	1	0	0	0	0	1	0	0	0	3895	884	31	1	4723	1	CROCC	1	17292527	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	836443	17292527	231958094	8	1433										
RNF186	54546	broad.mit.edu	37	chr1	20141295	20141295	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cccaccaccgcctcatggtcGcgcaggctgcagatgaggcc	12	17	1	2	rs201262383		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:20141295G>A	ENST00000375121.2	-	1	476	c.300C>T	c.(298-300)cgC>cgT	p.R100R	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	100						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)		CCTCATGGTCGCGCAGGCTGC	0.667													G|||	1	0.000199681	0	0.0014	5008	,	,		17036	0		0	False		,,,				2504	0					ENST00000375121.2																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(298-300)cgC>cgT		ring finger protein 186		G		1,4403		0,1,2201	38	42	40		300	-11.4	0.1	1		40	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	RNF186	NM_019062.1		0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154		100/228	20141295	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	54546					integral to membrane	zinc ion binding	g.chr1:20141295G>A		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"RING-type (C3HC4) zinc fingers"	25978	protein-coding gene	gene with protein product	"hypothetical protein FLJ20225"					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.300C>T	1.37:g.20141295G>A			Somatic				RP11-91K11.2_ENST00000454736.1_RNA	p.R100R	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	476	-		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)	100					Q53GE0	Silent	SNP	ENST00000375121.2	37	c.300C>T	CCDS199.1																																																																																				0.667	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		33	53	0	0	0	1	0	33	53					A	20141295	G	A	20141295	2	1	21	1	0	0	0	0	0	0	0	1	13484	1074	38	1		1	RNF186	1	20141295	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2848768	20141295	229109326	9	1434										
ASAP3	55616	broad.mit.edu	37	chr1	23767955	23767955	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttctgtagctcgtcctcctgGgcctgatggagctatgggac	13	11	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:23767955G>T	ENST00000336689.3	-	9	803	c.759C>A	c.(757-759)gcC>gcA	p.A253A	ASAP3_ENST00000437606.2_Silent_p.A244A	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	253					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						CGTCCTCCTGGGCCTGATGGA	0.582																																						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.(757-759)gcC>gcA		ArfGAP with SH3 domain, ankyrin repeat and PH domain 3							44	46	46					1																	23767955		2203	4300	6503	SO:0001819	synonymous_variant	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23767955G>T	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.759C>A	1.37:g.23767955G>T			Somatic				ASAP3_ENST00000437606.2_Silent_p.A244A	p.A253A	NM_017707.3	NP_060177.2	WXS	Illumina GAIIx	Phase_I	Q8TDY4	ASAP3_HUMAN			9	803	-			253					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	37	c.759C>A	CCDS235.1																																																																																				0.582	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		9	20	1	0	0.0477658	1	0.0479846	9	20					T	23767955	G	T	23767955	2	4	21	1	0	0	0	0	0	0	0	1	1012	1219	43	5		5	ASAP3	1	23767955	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3626660	23767955	225482666	10	1435										
CATSPER4	378807	broad.mit.edu	37	chr1	26527326	26527326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcccccgcttcccagacaggCgcagaggaagaggaggagaa	14	12	0	4	rs201719884		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:26527326C>T	ENST00000456354.2	+	8	1060	c.993C>T	c.(991-993)ggC>ggT	p.G331G		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	331					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)		CCCAGACAGGCGCAGAGGAAG	0.627													C|||	1	0.000199681	0	0.0014	5008	,	,		15315	0		0	False		,,,				2504	0					ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(991-993)ggC>ggT		cation channel, sperm associated 4							40	44	43					1																	26527326		2203	4300	6503	SO:0001819	synonymous_variant	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26527326C>T	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.993C>T	1.37:g.26527326C>T			Somatic					p.G331G	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)	8	1060	+		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)	331					A1A4W6|Q5VY71	Silent	SNP	ENST00000456354.2	37	c.993C>T	CCDS30645.1																																																																																				0.627	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		25	51	0	0	0	1	0	25	51					T	26527326	C	T	26527326	2	4	21	1	0	0	0	0	0	0	0	1	2692	755	27	1		1	CATSPER4	1	26527326	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2759371	26527326	222723295	11	1436										
AHDC1	27245	broad.mit.edu	37	chr1	27877512	27877512	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaccctcaggcccgggggggCcgtgcggtgagcacaagtcc	17	14	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:27877512C>G	ENST00000247087.5	-	5	1711	c.1115G>C	c.(1114-1116)gGc>gCc	p.G372A	AHDC1_ENST00000374011.2_Missense_Mutation_p.G372A			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	372	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCCGGGGGGGCCGTGCGGTGA	0.697																																						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.(1114-1116)gGc>gCc		AT hook, DNA binding motif, containing 1							6	7	7					1																	27877512		2062	4016	6078	SO:0001583	missense	27245						DNA binding	g.chr1:27877512C>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.1115G>C	1.37:g.27877512C>G	ENSP00000247087:p.Gly372Ala		Somatic				AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Missense_Mutation_p.G372A	p.G372A	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	2083	-		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)	372			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.1115G>C	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324115	0.60634	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.50277	0.75;0.75	5.58	4.66	0.58398	.	0.359172	0.19861	U	0.104440	T	0.30008	0.0751	N	0.14661	0.345	0.32867	D	0.508718	P	0.50819	0.939	B	0.41412	0.356	T	0.35126	-0.9801	10	0.36615	T	0.2	-16.2296	11.0195	0.47709	0.0:0.9126:0.0:0.0874	.	372	Q5TGY3	AHDC1_HUMAN	A	372	ENSP00000247087:G372A;ENSP00000363123:G372A	ENSP00000247087:G372A	G	-	2	0	AHDC1	27750099	0.940000	0.31905	0.998000	0.56505	0.979000	0.70002	3.405000	0.52630	2.630000	0.89119	0.591000	0.81541	GGC		0.697	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			11	15	0	0	0	1	0	11	15					G	27877512	C	G	27877512	3	3	21	1	0	0	0	0	1	0	0	0	412	739	26	5	3700	5	AHDC1	1	27877512	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1350186	27877512	221373109	12	1437										
OPRD1	4985	broad.mit.edu	37	chr1	29189255	29189255	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccttgtttccgcggcccagaCggggcagtggtgtgcatgct	15	12	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:29189255C>T	ENST00000234961.2	+	3	821	c.579C>T	c.(577-579)gaC>gaT	p.D193D		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	193					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GCGGCCCAGACGGGGCAGTGG	0.637																																						ENST00000234961.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e3-1		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)						78	61	67					1																	29189255		2203	4300	6503	SO:0001630	splice_region_variant	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29189255C>T	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"GPCR / Class A : Opioid receptors"	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.578-1C>T	1.37:g.29189255C>T			Somatic					p.D193_splice	NM_000911.3	NP_000902.3	WXS	Illumina GAIIx	Phase_I	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	3	821	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	193					B5B0B8	Splice_Site	SNP	ENST00000234961.2	37	c.577_splice	CCDS329.1																																																																																				0.637	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911	Silent	20	23	0	0	0	1	0	20	23					T	29189255	C	T	29189255	5	4	21	1	0	0	0	0	0	0	1	0	10893	550	19	1	589	1	OPRD1	1	29189255	Splice_Site	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1311743	29189255	220061366	13	1438										
TRIM62	55223	broad.mit.edu	37	chr1	33625365	33625365	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccgctcctgcaggatctgggCtccctcctggaccttgcgca	11	17	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:33625365C>A	ENST00000291416.5	-	3	918	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S	TRIM62_ENST00000485148.1_5'UTR|TRIM62_ENST00000543586.1_Missense_Mutation_p.A108S	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	229					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)				AGGATCTGGGCTCCCTCCTGG	0.677																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(685-687)Gcc>Tcc		tripartite motif containing 62							55	56	55					1																	33625365		2203	4300	6503	SO:0001583	missense	55223					intracellular	zinc ion binding	g.chr1:33625365C>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.685G>T	1.37:g.33625365C>A	ENSP00000291416:p.Ala229Ser		Somatic				TRIM62_ENST00000485148.1_5'UTR|TRIM62_ENST00000543586.1_Missense_Mutation_p.A108S	p.A229S	NM_018207.2	NP_060677.2	WXS	Illumina GAIIx	Phase_I	Q9BVG3	TRI62_HUMAN			3	918	-		Myeloproliferative disorder(586;0.0393)	229					B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	c.685G>T	CCDS376.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910318	0.52439	.	.	ENSG00000116525	ENST00000291416;ENST00000373432;ENST00000373430;ENST00000543586	T;T	0.39787	1.06;1.06	4.76	1.31	0.21738	.	0.307695	0.31188	N	0.008094	T	0.19248	0.0462	N	0.08118	0	0.26215	N	0.979246	B	0.23937	0.094	B	0.14023	0.01	T	0.13926	-1.0491	10	0.45353	T	0.12	.	7.3969	0.26942	0.0:0.6452:0.0:0.3548	.	229	Q9BVG3	TRI62_HUMAN	S	229;229;229;108	ENSP00000291416:A229S;ENSP00000441173:A108S	ENSP00000291416:A229S	A	-	1	0	TRIM62	33397952	1.000000	0.71417	0.731000	0.30826	0.978000	0.69477	2.784000	0.47774	0.544000	0.28883	-0.140000	0.14226	GCC		0.677	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		42	55	1	0	3.61848e-18	1	3.95686e-18	42	55					A	33625365	C	A	33625365	3	1	21	1	0	0	0	0	1	0	0	0	16552	797	28	5	754	5	TRIM62	1	33625365	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	4436110	33625365	215625256	14	1439										
FAM176B	55194	broad.mit.edu	37	chr1	36788049	36788049	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcccgctccagctcctccgcCgacgtgaagacgttgacgtt	11	16	0	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:36788049C>A	ENST00000270824.1	-	3	636	c.345G>T	c.(343-345)tcG>tcT	p.S115S	EVA1B_ENST00000490466.1_5'UTR|SH3D21_ENST00000474766.1_3'UTR|RP11-268J15.5_ENST00000373137.2_5'Flank	NM_018166.1	NP_060636.1	Q9NVM1	EVA1B_HUMAN	eva-1 homolog B (C. elegans)	115						integral component of membrane (GO:0016021)											GCTCCTCCGCCGACGTGAAGA	0.731																																						ENST00000270824.1																			0											c.(343-345)tcG>tcT		eva-1 homolog B (C. elegans)							14	17	16					1																	36788049		2130	4179	6309	SO:0001819	synonymous_variant	55194							g.chr1:36788049C>A	AK001509	CCDS406.1	1p34.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000142694	ENSG00000142694			25558	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 78", "family with sequence similarity 176, member B"	C1orf78, FAM176B		14702039	Standard	XM_005270998		Approved	FLJ10647	uc001caj.1	Q9NVM1	OTTHUMG00000007867	ENST00000270824.1:c.345G>T	1.37:g.36788049C>A			Somatic				EVA1B_ENST00000490466.1_5'UTR|SH3D21_ENST00000474766.1_3'UTR	p.S115S	NM_018166.1	NP_060636.1	WXS	Illumina GAIIx	Phase_I					3	636	-								D3DPS7	Silent	SNP	ENST00000270824.1	37	c.345G>T	CCDS406.1																																																																																				0.731	EVA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021689.1	NM_018166		21	25	1	0	2.41591e-17	1	2.61575e-17	21	25					A	36788049	C	A	36788049	2	1	21	1	0	0	0	0	0	0	0	1	5505	639	23	5		5	FAM176B	1	36788049	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3162684	36788049	212462572	15	1440										
KCNQ4	9132	broad.mit.edu	37	chr1	41284281	41284281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgcgcttcctgcagatcctgCgcatggtgcgcatggaccgc	13	14	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:41284281C>T	ENST00000347132.5	+	4	719	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	KCNQ4_ENST00000509682.2_Missense_Mutation_p.R213C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	213					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	GCAGATCCTGCGCATGGTGCG	0.687																																						ENST00000347132.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.(637-639)Cgc>Tgc		potassium voltage-gated channel, KQT-like subfamily, member 4							20	20	20					1																	41284281		2201	4294	6495	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41284281C>T	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.637C>T	1.37:g.41284281C>T	ENSP00000262916:p.Arg213Cys		Somatic				KCNQ4_ENST00000509682.2_Missense_Mutation_p.R213C	p.R213C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	WXS	Illumina GAIIx	Phase_I	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		4	719	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	213					O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.637C>T	CCDS456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.507300|5.507300	0.96386|0.96386	.|.	.|.	ENSG00000117013|ENSG00000117013	ENST00000443478|ENST00000347132;ENST00000509682	.|D;D	.|0.98849	.|-5.18;-5.18	5.04|5.04	5.04|5.04	0.67666|0.67666	.|Ion transport (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99363|0.99363	0.9776|0.9776	H|H	0.94771|0.94771	3.58|3.58	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.938	D|D	0.98640|0.98640	1.0675|1.0675	5|10	.|0.87932	.|D	.|0	-20.2322|-20.2322	15.9289|15.9289	0.79644|0.79644	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|213;213	.|P56696-2;P56696	.|.;KCNQ4_HUMAN	V|C	108|213	.|ENSP00000262916:R213C;ENSP00000423756:R213C	.|ENSP00000262916:R213C	A|R	+|+	2|1	0|0	KCNQ4|KCNQ4	41056868|41056868	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.574000|7.574000	0.82434|0.82434	2.615000|2.615000	0.88500|0.88500	0.650000|0.650000	0.86243|0.86243	GCG|CGC		0.687	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		23	25	0	0	0	1	0	23	25					T	41284281	C	T	41284281	3	4	21	1	0	0	0	0	1	0	0	0	8094	768	27	1	651	1	KCNQ4	1	41284281	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	4496232	41284281	207966340	16	1441										
KIAA0467	23334	broad.mit.edu	37	chr1	43909340	43909340	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtgaatccttggatgtgtcgCccccgggagcccgtgaggag							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:43909340delC	ENST00000562955.1	+	61	8527	c.8527delC	c.(8527-8529)cccfs	p.P2844fs	SZT2_ENST00000372442.1_Frame_Shift_Del_p.P2002fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2901					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						GGATGTGTCGCCCCCGGGAGC	0.577																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(8527-8529)ccfs		seizure threshold 2 homolog (mouse)							109	112	111					1																	43909340		2203	4300	6503	SO:0001589	frameshift_variant	23334					peroxisome		g.chr1:43909340delC	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.8527delC	1.37:g.43909340delC	ENSP00000457168:p.Pro2844fs		Somatic				SZT2_ENST00000372442.1_Frame_Shift_Del_p.P2002fs	p.P2844fs	NM_015284.3	NP_056099.3	WXS	Illumina GAIIx	Phase_I	Q5T011	SZT2_HUMAN			61	8527	+			2901					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Frame_Shift_Del	DEL	ENST00000562955.1	37	c.8527delC	CCDS30694.2																																																																																				0.577	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		60	115						60	115	---	---	---	---	-	43909340	C	-	43909340	7	5	21	1	0	1	0	1	0	0	0	0	8187	739	26	0	6179	0	KIAA0467	1	43909340	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2625059	43909340	205341281	17	1442										
STIL	6491	broad.mit.edu	37	chr1	47728788	47728788	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctcacaactagagaagagctGctgggaaggatatataatgt	11	6	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:47728788G>A	ENST00000360380.3	-	16	2979				STIL_ENST00000337817.5_Intron|STIL_ENST00000371877.3_Splice_Site_p.N872N|STIL_ENST00000243182.6_Intron|STIL_ENST00000396221.2_Intron	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus						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)				GAGAAGAGCTGCTGGGAAGGA	0.398																																						ENST00000371877.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.e15-1		SCL/TAL1 interrupting locus							45	42	43					1																	47728788		2203	4300	6503	SO:0001627	intron_variant	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47728788G>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.2616-3C>T	1.37:g.47728788G>A			Somatic				STIL_ENST00000396221.2_Intron|STIL_ENST00000360380.3_Intron|STIL_ENST00000337817.5_Intron|STIL_ENST00000243182.6_Intron	p.N872_splice			WXS	Illumina GAIIx	Phase_I	Q15468	STIL_HUMAN			15	2763	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	872					Q5T0C5|Q68CN9	Splice_Site	SNP	ENST00000360380.3	37	c.2615_splice	CCDS548.1																																																																																				0.398	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		11	18	0	0	0	1	0	11	18					A	47728788	G	A	47728788	1	1	21	0	1	0	0	0	0	0	0	0	15297	1333	46	3		3	STIL	1	47728788	Intron	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3819448	47728788	201521833	18	1443										
KTI12	112970	broad.mit.edu	37	chr1	52498467	52498467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agtgtacgaaataaactggcGacgaaggcgactcagttctg	12	8	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:52498467G>A	ENST00000371614.1	-	1	1021	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	323							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						ATAAACTGGCGACGAAGGCGA	0.537																																						ENST00000371614.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						c.(967-969)Cgc>Tgc		KTI12 homolog, chromatin associated (S. cerevisiae)							87	87	87					1																	52498467		2203	4300	6503	SO:0001583	missense	112970						ATP binding	g.chr1:52498467G>A		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.967C>T	1.37:g.52498467G>A	ENSP00000360676:p.Arg323Cys		Somatic				TXNDC12_ENST00000371626.4_Intron|TXNDC12_ENST00000472624.1_Intron	p.R323C	NM_138417.2	NP_612426.1	WXS	Illumina GAIIx	Phase_I	Q96EK9	KTI12_HUMAN			1	1021	-			323						Missense_Mutation	SNP	ENST00000371614.1	37	c.967C>T	CCDS562.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418157	0.83449	.	.	ENSG00000198841	ENST00000371614	T	0.46063	0.88	4.64	4.64	0.57946	.	0.084062	0.49305	U	0.000146	T	0.69691	0.3139	M	0.91717	3.235	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.76639	-0.2885	10	0.87932	D	0	.	12.3544	0.55167	0.0:0.0:0.8196:0.1804	.	323	Q96EK9	KTI12_HUMAN	C	323	ENSP00000360676:R323C	ENSP00000360676:R323C	R	-	1	0	KTI12	52271055	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	2.433000	0.44793	2.396000	0.81511	0.557000	0.71058	CGC		0.537	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		63	61	0	0	0	1	0	63	61					A	52498467	G	A	52498467	3	1	21	1	0	0	0	0	1	0	0	0	8593	1058	37	1	101	1	KTI12	1	52498467	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	4769679	52498467	196752154	19	1444										
PODN	127435	broad.mit.edu	37	chr1	53543382	53543382	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caagctggagaagatcccccCgggggccttcagcgagctga	14	13	1	3	rs200853703		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:53543382C>G	ENST00000312553.5	+	7	915	c.908C>G	c.(907-909)cCg>cGg	p.P303R	PODN_ENST00000371500.3_Missense_Mutation_p.P284R|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Missense_Mutation_p.P161R	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	255					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						AAGATCCCCCCGGGGGCCTTC	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.(850-852)cCg>cGg		podocan							97	110	106					1																	53543382		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.chr1:53543382C>G	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.908C>G	1.37:g.53543382C>G	ENSP00000308315:p.Pro303Arg		Somatic				PODN_ENST00000395871.2_Missense_Mutation_p.P161R|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Missense_Mutation_p.P303R	p.P284R	NM_001199080.1	NP_001186009.1	WXS	Illumina GAIIx	Phase_I	Q7Z5L7	PODN_HUMAN			9	1192	+			255					B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.851C>G	CCDS573.1	.	.	.	.	.	.	.	.	.	.	C	2.073	-0.412521	0.04799	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.58797	0.31;0.31;0.31	4.96	4.96	0.65561	.	0.464279	0.25327	N	0.031470	T	0.48150	0.1484	N	0.20986	0.625	0.09310	N	0.999993	B;P;B	0.43788	0.06;0.817;0.043	B;P;B	0.47941	0.123;0.562;0.018	T	0.33979	-0.9847	10	0.12103	T	0.63	.	13.1932	0.59723	0.1986:0.8014:0.0:0.0	.	161;284;303	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	R	284;161;303	ENSP00000360555:P284R;ENSP00000379212:P161R;ENSP00000308315:P303R	ENSP00000308315:P303R	P	+	2	0	PODN	53315970	0.014000	0.17966	0.995000	0.50966	0.473000	0.32948	1.190000	0.32126	2.564000	0.86499	0.561000	0.74099	CCG		0.612	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		59	142	0	0	0	1	0	59	142					G	53543382	C	G	53543382	3	3	21	1	0	0	0	0	1	0	0	0	12187	652	23	5	934	5	PODN	1	53543382	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1044915	53543382	195707239	20	1445										
TTC22	55001	broad.mit.edu	37	chr1	55266305	55266305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tagcgccttgtcgtagagcgCgatgcctgccgccagccccc	12	17	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:55266305C>T	ENST00000371276.4	-	1	635	c.532G>A	c.(532-534)Gcg>Acg	p.A178T	TTC22_ENST00000371274.4_Missense_Mutation_p.A178T	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	178										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCGTAGAGCGCGATGCCTGCC	0.701																																						ENST00000371276.4																			0				kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						c.(532-534)Gcg>Acg		tetratricopeptide repeat domain 22							7	8	8					1																	55266305		2167	4273	6440	SO:0001583	missense	55001						binding	g.chr1:55266305C>T	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.532G>A	1.37:g.55266305C>T	ENSP00000360323:p.Ala178Thr		Somatic				TTC22_ENST00000371274.4_Missense_Mutation_p.A178T	p.A178T	NM_001114108.1	NP_001107580.1	WXS	Illumina GAIIx	Phase_I	Q5TAA0	TTC22_HUMAN			1	635	-			178					Q9NWT4	Missense_Mutation	SNP	ENST00000371276.4	37	c.532G>A	CCDS44152.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312967	0.40895	.	.	ENSG00000006555	ENST00000371276;ENST00000371274	T;T	0.44482	0.92;2.11	4.31	2.41	0.29592	.	0.377447	0.26062	N	0.026566	T	0.32585	0.0834	L	0.54323	1.7	0.22762	N	0.998764	B;B	0.12013	0.002;0.005	B;B	0.08055	0.001;0.003	T	0.20405	-1.0276	10	0.38643	T	0.18	-28.9187	5.4295	0.16446	0.164:0.6574:0.0:0.1786	.	178;178	Q5TAA0;Q5TAA0-2	TTC22_HUMAN;.	T	178	ENSP00000360323:A178T;ENSP00000360321:A178T	ENSP00000360321:A178T	A	-	1	0	TTC22	55038893	0.437000	0.25593	0.977000	0.42913	0.928000	0.56348	0.567000	0.23608	0.541000	0.28827	0.462000	0.41574	GCG		0.701	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904		9	7	0	0	0	1	0	9	7					T	55266305	C	T	55266305	3	4	21	1	0	0	0	0	1	0	0	0	16704	768	27	1	1308	1	TTC22	1	55266305	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1722923	55266305	193984316	21	1446										
C8A	731	broad.mit.edu	37	chr1	57373743	57373743	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caccattacataccgttcctGggggaggtcattaaagtata							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:57373743delG	ENST00000361249.3	+	9	1433	c.1337delG	c.(1336-1338)tggfs	p.W446fs		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	446	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TACCGTTCCTGGGGGAGGTCA	0.483																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(1336-1338)tgfs		complement component 8, alpha polypeptide							161	162	162					1																	57373743		2203	4300	6503	SO:0001589	frameshift_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57373743delG	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1337delG	1.37:g.57373743delG	ENSP00000354458:p.Trp446fs		Somatic					p.W446fs	NM_000562.2	NP_000553.1	WXS	Illumina GAIIx	Phase_I	P07357	CO8A_HUMAN			9	1433	+			446			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Frame_Shift_Del	DEL	ENST00000361249.3	37	c.1337delG	CCDS606.1																																																																																				0.483	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		41	43						41	43	---	---	---	---	-	57373743	G	-	57373743	7	5	21	1	0	1	0	1	0	0	0	0	2418	1357	47	0	1371	0	C8A	1	57373743	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2107438	57373743	191876878	22	1447										
DAB1	1600	broad.mit.edu	37	chr1	57537235	57537235	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	actgcttatccttttgtgccTttttttctaattcttctctt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:57537235delT	ENST00000371231.1	-	5	552	c.518delA	c.(517-519)aagfs	p.K173fs	DAB1_ENST00000420954.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Frame_Shift_Del_p.K173fs|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371230.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371236.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000414851.2_Frame_Shift_Del_p.K173fs			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	173	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				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						CTTTTGTGCCTTTTTTTCTAA	0.393																																						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.(517-519)agfs		Dab, reelin signal transducer, homolog 1 (Drosophila)							225	198	207					1																	57537235		2203	4300	6503	SO:0001589	frameshift_variant	1600				cell differentiation|nervous system development			g.chr1:57537235delT	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.518delA	1.37:g.57537235delT	ENSP00000360275:p.Lys173fs		Somatic				DAB1_ENST00000371230.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371234.4_Frame_Shift_Del_p.K173fs|DAB1_ENST00000420954.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371231.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000414851.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000485760.1_5'UTR	p.K173fs			WXS	Illumina GAIIx	Phase_I	O75553	DAB1_HUMAN			6	781	-			173			PID.		A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Frame_Shift_Del	DEL	ENST00000371231.1	37	c.518delA																																																																																					0.393	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		18	44						18	44	---	---	---	---	-	57537235	T	-	57537235	7	5	21	1	0	1	0	1	0	0	0	0	4219	1609	56	0	1185	0	DAB1	1	57537235	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	163492	57537235	191713386	23	1448										
MSH4	4438	broad.mit.edu	37	chr1	76262890	76262890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcagcagccttccctgccccGcgccaaactcccggccagct	9	21	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:76262890G>A	ENST00000263187.3	+	1	324	c.220G>A	c.(220-222)Gcg>Acg	p.A74T		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	74					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCCCTGCCCCGCGCCAAACTC	0.672								Mismatch excision repair (MMR)																														ENST00000263187.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(220-222)Gcg>Acg	Mismatch excision repair (MMR)	mutS homolog 4																																				SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76262890G>A	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.220G>A	1.37:g.76262890G>A	ENSP00000263187:p.Ala74Thr		Somatic					p.A74T	NM_002440.3	NP_002431.2	WXS	Illumina GAIIx	Phase_I	O15457	MSH4_HUMAN			1	324	+			74					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.220G>A	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	0.705	-0.789369	0.02884	.	.	ENSG00000057468	ENST00000263187	D	0.88124	-2.34	3.68	0.595	0.17490	.	432.366000	0.00166	N	0.000012	T	0.48840	0.1522	N	0.03608	-0.345	0.09310	N	1	B	0.15719	0.014	B	0.09377	0.004	T	0.54510	-0.8283	10	0.11182	T	0.66	.	7.9303	0.29899	0.1637:0.4879:0.3484:0.0	.	74	O15457	MSH4_HUMAN	T	74	ENSP00000263187:A74T	ENSP00000263187:A74T	A	+	1	0	MSH4	76035478	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.009000	0.03660	0.131000	0.18576	-0.502000	0.04539	GCG		0.672	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		7	7	0	0	0	1	0	7	7					A	76262890	G	A	76262890	3	1	21	1	0	0	0	0	1	0	0	0	9881	1087	38	1	222	1	MSH4	1	76262890	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	18725655	76262890	172987731	24	1449										
NEXN	91624	broad.mit.edu	37	chr1	78408251	78408251	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	catggttcaagaagcctcttAaaaacacatcagttgtagac							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:78408251delA	ENST00000334785.7	+	13	1949	c.1765delA	c.(1765-1767)aaafs	p.K589fs	NEXN_ENST00000457030.1_Frame_Shift_Del_p.K575fs|FUBP1_ENST00000489495.1_5'Flank|NEXN_ENST00000480732.2_3'UTR|NEXN_ENST00000330010.8_Frame_Shift_Del_p.K525fs	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAGCCTCTTAAAAACACATC	0.438																																						ENST00000330010.8																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1573-1575)aafs		nexilin (F actin binding protein)							100	98	99					1																	78408251		1893	4103	5996	SO:0001589	frameshift_variant	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78408251delA	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1765delA	1.37:g.78408251delA	ENSP00000333938:p.Lys589fs		Somatic				NEXN_ENST00000457030.1_Frame_Shift_Del_p.K575fs|NEXN_ENST00000334785.7_Frame_Shift_Del_p.K589fs|NEXN_ENST00000480732.1_3'UTR	p.K525fs	NM_001172309.1	NP_001165780.1	WXS	Illumina GAIIx	Phase_I	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	12	1870	+			589			Glu-rich.			Frame_Shift_Del	DEL	ENST00000334785.7	37	c.1573delA	CCDS41351.1																																																																																				0.438	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		33	57						33	57	---	---	---	---	-	78408251	A	-	78408251	7	5	21	1	0	1	0	1	0	0	0	0	10364	363	13	0	1811	0	NEXN	1	78408251	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	2145361	78408251	170842370	25	1450										
DNASE2B	58511	broad.mit.edu	37	chr1	84880445	84880445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atgtattggagacctaaatcGgagtccacaccaagccttca	8	11	1	1	rs145614783	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:84880445G>A	ENST00000370665.3	+	6	1013	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	DNASE2B_ENST00000370662.3_Missense_Mutation_p.R119Q	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	327					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)		GACCTAAATCGGAGTCCACAC	0.403																																					Pancreas(54;788 1175 11852 16034 30034)	ENST00000370665.3																			0				endometrium(1)|lung(4)|skin(1)	6						c.(979-981)cGg>cAg		deoxyribonuclease II beta		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	57	54	55		980,356	5.3	1	1	dbSNP_134	55	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	DNASE2B	NM_021233.2,NM_058248.1	43,43	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	327/362,119/154	84880445	3,13003	2203	4300	6503	SO:0001583	missense	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84880445G>A	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.980G>A	1.37:g.84880445G>A	ENSP00000359699:p.Arg327Gln		Somatic				DNASE2B_ENST00000370662.3_Missense_Mutation_p.R119Q	p.R327Q	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	1013	+			327					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Missense_Mutation	SNP	ENST00000370665.3	37	c.980G>A	CCDS44167.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233991	0.79688	2.27E-4	2.33E-4	ENSG00000137976	ENST00000370665;ENST00000370662	T;T	0.18960	2.18;2.18	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59495	-0.7444	10	0.62326	D	0.03	-2.5616	13.3834	0.60783	0.0752:0.0:0.9248:0.0	.	327	Q8WZ79	DNS2B_HUMAN	Q	327;119	ENSP00000359699:R327Q;ENSP00000359696:R119Q	ENSP00000359696:R119Q	R	+	2	0	DNASE2B	84653033	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	6.066000	0.71185	2.739000	0.93911	0.655000	0.94253	CGG		0.403	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		33	32	0	0	0	1	0	33	32					A	84880445	G	A	84880445	3	1	21	1	0	0	0	0	1	0	0	0	4667	1116	39	1	1002	1	DNASE2B	1	84880445	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	6472194	84880445	164370176	26	1451										
HFM1	164045	broad.mit.edu	37	chr1	91845795	91845796	+	Splice_Site	INS	-	-	A													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cctatctgtgtaaagaagctINSaaaaaataaaaagtaatcaa							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:91845795_91845796insA	ENST00000370425.3	-	8	972		c.e8-2		HFM1_ENST00000370424.3_Splice_Site|HFM1_ENST00000294696.5_Splice_Site	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)						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)		GTAAAGAAGCTAAAAAATAAAA	0.282																																						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.e8-2		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)																																				SO:0001630	splice_region_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91845795_91845796insA	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.874-2->T	1.37:g.91845801_91845801dupA			Somatic				HFM1_ENST00000370424.3_Splice_Site|HFM1_ENST00000294696.5_Splice_Site		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)	8	972	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)						B1B0B6|Q8N9Q0	Splice_Site	INS	ENST00000370425.3	37		CCDS30769.2																																																																																				0.282	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	Intron	22	49						22	49	---	---	---	---	A	91845796	-	A	91845795	8	5	21	1	0	1	1	0	0	0	1	0	7092	1536	53	0	3563	0	HFM1	1	91845795	Splice_Site	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	6965350	91845795	157404826	27	1452										
ARHGAP29	9411	broad.mit.edu	37	chr1	94650983	94650983	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcaatttgcgaaacttgtgtGtgagagctgcctttgacatc	10	8	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:94650983G>C	ENST00000260526.6	-	17	2017	c.1835C>G	c.(1834-1836)aCa>aGa	p.T612R	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	612					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.T612I(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAACTTGTGTGTGAGAGCTGC	0.373																																						ENST00000260526.6																			1	Substitution - Missense(1)	p.T612I(1)	large_intestine(1)	NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1834-1836)aCa>aGa		Rho GTPase activating protein 29							153	142	146					1																	94650983		2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94650983G>C		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1835C>G	1.37:g.94650983G>C	ENSP00000260526:p.Thr612Arg		Somatic				ARHGAP29_ENST00000482481.1_5'UTR	p.T612R	NM_004815.3	NP_004806.3	WXS	Illumina GAIIx	Phase_I	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	17	2017	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	612					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.1835C>G	CCDS748.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121953	0.77436	.	.	ENSG00000137962	ENST00000260526	D	0.84146	-1.81	5.7	4.74	0.60224	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.000000	0.39687	N	0.001283	D	0.91212	0.7231	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.982;0.994	D	0.91774	0.5430	10	0.87932	D	0	-23.9357	18.3296	0.90264	0.0:0.1284:0.8716:0.0	.	612;612	F8VWZ8;Q52LW3	.;RHG29_HUMAN	R	612	ENSP00000260526:T612R	ENSP00000260526:T612R	T	-	2	0	ARHGAP29	94423571	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.786000	0.69006	2.698000	0.92095	0.655000	0.94253	ACA		0.373	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		24	37	0	0	0	1	0	24	37					C	94650983	G	C	94650983	3	2	21	1	0	0	0	0	1	0	0	0	878	1377	48	5	1978	5	ARHGAP29	1	94650983	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2805188	94650983	154599638	28	1453										
PTBP2	58155	broad.mit.edu	37	chr1	97235320	97235320	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atggatggtgctccttctcgTgtacttcatattcgaaaatt	8	8	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:97235320T>C	ENST00000426398.2	+	4	220	c.177T>C	c.(175-177)cgT>cgC	p.R59R	PTBP2_ENST00000370197.1_Silent_p.R59R|PTBP2_ENST00000370198.1_Silent_p.R59R|PTBP2_ENST00000541987.1_Silent_p.R28R|PTBP2_ENST00000394184.3_Silent_p.R70R|PTBP2_ENST00000609116.1_Silent_p.R59R|PTBP2_ENST00000482253.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	59	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CTCCTTCTCGTGTACTTCATA	0.343																																						ENST00000236228.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26						c.(175-177)cgT>cgC		polypyrimidine tract binding protein 2							114	124	121					1																	97235320		2203	4300	6503	SO:0001819	synonymous_variant	58155						nucleotide binding	g.chr1:97235320T>C	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"RNA binding motif (RRM) containing"	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.177T>C	1.37:g.97235320T>C			Somatic				PTBP2_ENST00000426398.2_Silent_p.R59R|PTBP2_ENST00000541987.1_Silent_p.R28R|PTBP2_ENST00000370197.1_Silent_p.R59R|PTBP2_ENST00000394184.3_Silent_p.R70R|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Silent_p.R59R	p.R59R	NM_021190.2	NP_067013.1	WXS	Illumina GAIIx	Phase_I	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	4	259	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	59			RRM 1.		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Silent	SNP	ENST00000426398.2	37	c.177T>C	CCDS754.1																																																																																				0.343	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			45	72	0	0	0	1	0	45	72					C	97235320	T	C	97235320	2	2	21	1	0	0	0	0	0	0	0	1	12738	1683	59	4		4	PTBP2	1	97235320	Silent	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2584337	97235320	152015301	29	1454										
GPR61	83873	broad.mit.edu	37	chr1	110086356	110086356	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgttccgagtggcccgcgtgGctgccatgcagcacgggccg	16	14	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:110086356G>T	ENST00000527748.1	+	2	1395	c.712G>T	c.(712-714)Gct>Tct	p.A238S	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGCCCGCGTGGCTGCCATGCA	0.617																																						ENST00000527748.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23						c.(712-714)Gct>Tct		G protein-coupled receptor 61							116	126	123					1																	110086356		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086356G>T	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"GPCR / Class A : Orphans"	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.712G>T	1.37:g.110086356G>T	ENSP00000432456:p.Ala238Ser		Somatic				RP5-1160K1.8_ENST00000526411.1_RNA	p.A238S	NM_031936.4	NP_114142.3	WXS	Illumina GAIIx	Phase_I	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1395	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	238					A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	c.712G>T	CCDS801.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488690	0.84962	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.36520	1.25	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.51839	0.1698	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.45934	-0.9227	10	0.46703	T	0.11	-17.3028	18.6533	0.91439	0.0:0.0:1.0:0.0	.	238	Q9BZJ8	GPR61_HUMAN	S	238;366	ENSP00000432456:A238S	ENSP00000286603:A366S	A	+	1	0	GPR61	109887879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.597000	0.98273	2.722000	0.93159	0.655000	0.94253	GCT		0.617	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			98	159	1	0	1.94071e-40	1	2.1933e-40	98	159					T	110086356	G	T	110086356	3	4	21	1	0	0	0	0	1	0	0	0	6710	1203	42	5	714	5	GPR61	1	110086356	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	12851036	110086356	139164265	30	1455										
KCNA3	3738	broad.mit.edu	37	chr1	111217016	111217016	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgttgcggagcgggtcgaagTacctcatgcgccgcttgggg	17	11	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:111217016T>C	ENST00000369769.2	-	1	639	c.416A>G	c.(415-417)tAc>tGc	p.Y139C		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	139					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)	CGGGTCGAAGTACCTCATGCG	0.647																																						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.(415-417)tAc>tGc		potassium voltage-gated channel, shaker-related subfamily, member 3							55	64	61					1																	111217016		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111217016T>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.416A>G	1.37:g.111217016T>C	ENSP00000358784:p.Tyr139Cys		Somatic					p.Y139C	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	639	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	139					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.416A>G	CCDS828.2	.	.	.	.	.	.	.	.	.	.	T	16.26	3.074447	0.55646	.	.	ENSG00000177272	ENST00000369769	T	0.76578	-1.03	4.52	3.36	0.38483	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.073354	0.56097	U	0.000028	D	0.87176	0.6112	H	0.94582	3.555	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.88180	0.2870	10	0.87932	D	0	.	9.388	0.38356	0.1603:0.0:0.0:0.8397	.	139	P22001	KCNA3_HUMAN	C	139	ENSP00000358784:Y139C	ENSP00000358784:Y139C	Y	-	2	0	KCNA3	111018539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.145000	0.71769	0.559000	0.29153	0.379000	0.24179	TAC		0.647	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		73	84	0	0	0	1	0	73	84					C	111217016	T	C	111217016	3	2	21	1	0	0	0	0	1	0	0	0	8013	1638	57	4	1315	4	KCNA3	1	111217016	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1130660	111217016	138033605	31	1456										
PTGFRN	5738	broad.mit.edu	37	chr1	117484351	117484351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttgcagctctttgccgagggCgtgtggtgagagtccccaca	14	11	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:117484351C>T	ENST00000393203.2	+	2	211	c.64C>T	c.(64-66)Cgt>Tgt	p.R22C		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	22					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)		TTGCCGAGGGCGTGTGGTGAG	0.537																																						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.(64-66)Cgt>Tgt		prostaglandin F2 receptor inhibitor							72	73	73					1																	117484351		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117484351C>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.64C>T	1.37:g.117484351C>T	ENSP00000376899:p.Arg22Cys		Somatic					p.R22C	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)	2	211	+	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)	22					Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.64C>T	CCDS890.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866769	0.51588	.	.	ENSG00000134247	ENST00000393203	T	0.07444	3.19	5.46	5.46	0.80206	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.20700	0.0498	M	0.77616	2.38	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.00168	-1.1963	10	0.87932	D	0	-17.4659	12.1638	0.54119	0.1708:0.8291:0.0:0.0	.	22	Q9P2B2	FPRP_HUMAN	C	22	ENSP00000376899:R22C	ENSP00000376899:R22C	R	+	1	0	PTGFRN	117285874	1.000000	0.71417	0.967000	0.41034	0.168000	0.22595	4.995000	0.63908	2.733000	0.93635	0.467000	0.42956	CGT		0.537	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		48	57	0	0	0	1	0	48	57					T	117484351	C	T	117484351	3	4	21	1	0	0	0	0	1	0	0	0	12763	768	27	1	70	1	PTGFRN	1	117484351	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	6267335	117484351	131766270	32	1457										
NBPF14	25832	broad.mit.edu	37	chr1	148009407	148009407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtaaaaggcacttctgtaggGctggcatgagtcagtcagtt	13	7	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:148009407G>A	ENST00000369219.1	-	16	1916	c.1900C>T	c.(1900-1902)Ccc>Tcc	p.P634S				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	634	NBPF 7. {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)					CTTCTGTAGGGCTGGCATGAG	0.473																																						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.(1900-1902)Ccc>Tcc		neuroblastoma breakpoint family, member 14							99	199	170					1																	148009407		1639	4050	5689	SO:0001583	missense	25832					cytoplasm		g.chr1:148009407G>A	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.1900C>T	1.37:g.148009407G>A	ENSP00000358221:p.Pro634Ser		Somatic					p.P634S			WXS	Illumina GAIIx	Phase_I	Q5TI25	NBPFE_HUMAN			16	1916	-	all_hematologic(923;0.032)		634			NBPF 7.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37	c.1900C>T		.	.	.	.	.	.	.	.	.	.	g	5.953	0.359851	0.11296	.	.	ENSG00000122497	ENST00000369219;ENST00000434489	T	0.09911	2.93	.	.	.	DUF1220 (2);	.	.	.	.	T	0.07548	0.0190	M	0.70595	2.14	0.09310	N	1	.	.	.	.	.	.	T	0.25606	-1.0127	3	.	.	.	.	.	.	.	.	634	Q5TI25	NBPFE_HUMAN	S	634;224	ENSP00000358221:P634S	.	P	-	1	0	NBPF14	146476031	0.985000	0.35326	.	.	.	.	-1.081000	0.03403	.	.	.	.	CCC		0.473	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		25	425	0	0	0	1	0	25	425					A	148009407	G	A	148009407	3	1	21	1	0	0	0	0	1	0	0	0	10203	1203	42	3	893	3	NBPF14	1	148009407	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	30525056	148009407	101241214	33	1458										
ADAMTSL4	54507	broad.mit.edu	37	chr1	150531877	150531877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gttctcacctccccaggcccCctgccctgcagccctgtcaa	7	21	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:150531877C>T	ENST00000369038.2	+	15	3079	c.2878C>T	c.(2878-2880)Cct>Tct	p.P960S	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P983S|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.P960S			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	960	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCCCAGGCCCCCTGCCCTGCA	0.617											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2878-2880)Cct>Tct		ADAMTS-like 4							76	63	67					1																	150531877		2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150531877C>T	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2878C>T	1.37:g.150531877C>T	ENSP00000358034:p.Pro960Ser		Somatic	OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1733	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P983S|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.P960S	p.P960S	NM_019032.4	NP_061905.2	WXS	Illumina GAIIx	Phase_I	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		17	3114	+	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)		960			TSP type-1 5.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.2878C>T	CCDS955.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320227	0.60634	.	.	ENSG00000143382	ENST00000271643;ENST00000369039;ENST00000369038	T;T;T	0.60548	0.18;0.18;0.18	5.52	4.6	0.57074	.	.	.	.	.	T	0.43366	0.1244	L	0.48362	1.52	0.35638	D	0.810738	D;P;P	0.53619	0.961;0.705;0.831	P;B;P	0.48815	0.591;0.343;0.506	T	0.42430	-0.9452	9	0.35671	T	0.21	.	12.0047	0.53252	0.0:0.9155:0.0:0.0845	.	921;983;960	B7ZMJ3;F8WAD0;Q6UY14	.;.;ATL4_HUMAN	S	960;983;960	ENSP00000271643:P960S;ENSP00000358035:P983S;ENSP00000358034:P960S	ENSP00000271643:P960S	P	+	1	0	ADAMTSL4	148798501	0.010000	0.17322	0.991000	0.47740	0.947000	0.59692	1.434000	0.34958	1.311000	0.45024	0.462000	0.41574	CCT		0.617	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		36	53	0	0	0	1	0	36	53					T	150531877	C	T	150531877	3	4	21	1	0	0	0	0	1	0	0	0	277	623	22	3	3011	3	ADAMTSL4	1	150531877	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2522470	150531877	98718744	34	1459										
ZNF687	5298	broad.mit.edu	37	chr1	151261869	151261869	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttcaggctgatctacaagtgCgccatgtgcgacacagtctt	10	11	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:151261869C>T	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Silent_p.C829C			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)			TCTACAAGTGCGCCATGTGCG	0.612																																					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.(2485-2487)tgC>tgT		zinc finger protein 687							188	152	164					1																	151261869		2203	4300	6503	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151261869C>T	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151261869C>T			Somatic					p.C829C	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)		5	2585	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		829					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37	c.2487C>T		.	.	.	.	.	.	.	.	.	.	C	3.833	-0.035318	0.07497	.	.	ENSG00000143373	ENST00000426871	.	.	.	5.13	1.19	0.21007	.	.	.	.	.	T	0.40398	0.1115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25293	-1.0136	4	.	.	.	-15.8992	7.9778	0.30166	0.0:0.4789:0.0:0.5211	.	.	.	.	V	432	.	.	A	+	2	0	ZNF687	149528493	0.002000	0.14202	0.999000	0.59377	0.662000	0.39071	-1.240000	0.02914	0.062000	0.16340	0.561000	0.74099	GCG		0.612	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		64	86	0	0	0	1	0	64	86					T	151261869	C	T	151261869	1	4	21	0	1	0	0	0	0	0	0	0	18107	776	27	1		1	ZNF687	1	151261869	IGR	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	729992	151261869	97988752	35	1460										
PI4KB	5298	broad.mit.edu	37	chr1	151265430	151265432	+	In_Frame_Del	DEL	CTC	CTC	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tccaccagcagctgcagctgCtcctcagtcatgctcatgtg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:151265430_151265432delCTC	ENST00000368873.1	-	12	2515_2517	c.2347_2349delGAG	c.(2347-2349)gagdel	p.E783del	PI4KB_ENST00000529142.1_In_Frame_Del_p.E451del|PI4KB_ENST00000271657.5_In_Frame_Del_p.E795del|PI4KB_ENST00000368874.4_In_Frame_Del_p.E768del|PI4KB_ENST00000368875.2_In_Frame_Del_p.E795del|PI4KB_ENST00000368872.1_In_Frame_Del_p.E768del			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	783					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)			GCTGCAGCTGCTCCTCAGTCATG	0.542																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2383-2385)del		phosphatidylinositol 4-kinase, catalytic, beta																																				SO:0001651	inframe_deletion	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.chr1:151265430_151265432delCTC	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.2347_2349delGAG	1.37:g.151265433_151265435delCTC	ENSP00000357867:p.Glu783del		Somatic				PI4KB_ENST00000368873.1_In_Frame_Del_p.E783del|PI4KB_ENST00000271657.5_In_Frame_Del_p.E795del|PI4KB_ENST00000368874.4_In_Frame_Del_p.E768del|PI4KB_ENST00000529142.1_In_Frame_Del_p.E451del|PI4KB_ENST00000368872.1_In_Frame_Del_p.E768del	p.E795del	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)		13	2963_2965	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		783					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	In_Frame_Del	DEL	ENST00000368873.1	37	c.2383_2385delGAG																																																																																					0.542	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		38	55						38	55	---	---	---	---	-	151265432	CTC	-	151265430	7	5	21	1	0	1	0	1	0	0	0	0	11883	796	28	0	105	0	PI4KB	1	151265430	In_Frame_Del	DEL	CTC	TCGA-N7-A4Y0-01A-12D-A28R-08	3561	151265430	97985191	36	1461										
HRNR	388697	broad.mit.edu	37	chr1	152188528	152188528	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cctgagccagacccatgtcgGccactgctggaagaccaacc	10	16	0	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152188528G>A	ENST00000368801.2	-	3	5652	c.5577C>T	c.(5575-5577)ggC>ggT	p.G1859G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1859					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)			ACCCATGTCGGCCACTGCTGG	0.597																																						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.(5575-5577)ggC>ggT		hornerin							212	356	307					1																	152188528		2166	4294	6460	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188528G>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.5577C>T	1.37:g.152188528G>A			Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G1859G	NM_001009931.1	NP_001009931.1	WXS	Illumina GAIIx	Phase_I	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5652	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1859					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.5577C>T	CCDS30859.1																																																																																				0.597	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		85	890	0	0	0	1	0	85	890					A	152188528	G	A	152188528	2	1	21	1	0	0	0	0	0	0	0	1	7368	1190	42	3		3	HRNR	1	152188528	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	923098	152188528	97062093	37	1462										
FLG	2312	broad.mit.edu	37	chr1	152281526	152281526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atctcttgactgctcccaagCagatccaagatggtttctgg	9	11	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152281526C>T	ENST00000368799.1	-	3	5871	c.5836G>A	c.(5836-5838)Gct>Act	p.A1946T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1946	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)			TGCTCCCAAGCAGATCCAAGA	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.(5836-5838)Gct>Act		filaggrin							249	236	241					1																	152281526		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.chr1:152281526C>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.5836G>A	1.37:g.152281526C>T	ENSP00000357789:p.Ala1946Thr		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.A1946T	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5871	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1946			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5836G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	5.782	0.328667	0.10956	.	.	ENSG00000143631	ENST00000368799	T	0.01495	4.83	2.54	-5.08	0.02929	.	.	.	.	.	T	0.00468	0.0015	L	0.52364	1.645	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.46498	-0.9187	9	0.15499	T	0.54	-4.2776	3.4814	0.07603	0.3164:0.196:0.0:0.4875	.	1946	P20930	FILA_HUMAN	T	1946	ENSP00000357789:A1946T	ENSP00000357789:A1946T	A	-	1	0	FLG	150548150	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.045000	0.01410	-1.626000	0.01552	-0.236000	0.12185	GCT		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		173	304	0	0	0	1	0	173	304					T	152281526	C	T	152281526	3	4	21	1	0	0	0	0	1	0	0	0	5930	710	25	3	6353	3	FLG	1	152281526	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	92998	152281526	96969095	38	1463										
CRNN	49860	broad.mit.edu	37	chr1	152384693	152384693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgatgatcccattaatgtttTgcagtaactgaggcatcttt	8	8	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152384693T>C	ENST00000271835.3	-	2	79	c.17A>G	c.(16-18)cAa>cGa	p.Q6R	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	6					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)			ATTAATGTTTTGCAGTAACTG	0.493																																						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.(16-18)cAa>cGa		cornulin							109	104	106					1																	152384693		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152384693T>C	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"EF-hand domain containing"	1230	protein-coding gene	gene with protein product		611312	"chromosome 1 open reading frame 10"	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.17A>G	1.37:g.152384693T>C	ENSP00000271835:p.Gln6Arg		Somatic				RP1-91G5.3_ENST00000411804.1_RNA	p.Q6R	NM_016190.2	NP_057274.1	WXS	Illumina GAIIx	Phase_I	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	79	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		6					B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.17A>G	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.495271	0.00159	.	.	ENSG00000143536	ENST00000271835;ENST00000451038	T	0.08720	3.06	4.78	-2.98	0.05513	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	1.102530	0.07102	N	0.840552	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47861	-0.9084	10	0.02654	T	1	.	10.0967	0.42480	0.0:0.4107:0.0:0.5893	.	6	Q9UBG3	CRNN_HUMAN	R	6	ENSP00000271835:Q6R	ENSP00000271835:Q6R	Q	-	2	0	CRNN	150651317	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-1.275000	0.02817	-0.871000	0.04042	-1.410000	0.01125	CAA		0.493	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		67	87	0	0	0	1	0	67	87					C	152384693	T	C	152384693	3	2	21	1	0	0	0	0	1	0	0	0	3894	1812	63	4	1478	4	CRNN	1	152384693	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	103167	152384693	96865928	39	1464										
LCE1B	353132	broad.mit.edu	37	chr1	152784988	152784988	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgcatccccaagtgccctccCaagtgcctcacccctagatg	7	18	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152784988C>A	ENST00000360090.3	+	1	542	c.66C>A	c.(64-66)ccC>ccA	p.P22P		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	22	Pro-rich.				keratinization (GO:0031424)					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	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)			agtgccctcccaagtgccTCA	0.617																																						ENST00000360090.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18						c.(64-66)ccC>ccA		late cornified envelope 1B							97	97	97					1																	152784988		2203	4300	6503	SO:0001819	synonymous_variant	353132				keratinization			g.chr1:152784988C>A	BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"Late cornified envelopes"	16611	protein-coding gene	gene with protein product		612604	"small proline rich-like (epidermal differentiation complex) 2A"	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.66C>A	1.37:g.152784988C>A			Somatic					p.P22P	NM_178349.1	NP_848126.1	WXS	Illumina GAIIx	Phase_I	Q5T7P3	LCE1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	542	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		22			Pro-rich.		A4IF40	Silent	SNP	ENST00000360090.3	37	c.66C>A	CCDS1027.1																																																																																				0.617	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349		47	76	1	0	4.10826e-27	1	4.59559e-27	47	76					A	152784988	C	A	152784988	2	1	21	1	0	0	0	0	0	0	0	1	8669	581	21	5		5	LCE1B	1	152784988	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	400295	152784988	96465633	40	1465										
S100A13	6284	broad.mit.edu	37	chr1	153591516	153591516	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	catcaagagagcccacatccTgaggagacaccaaagggaag	11	11	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:153591516T>C	ENST00000392623.1	-	3	344		c.e3-2		S100A13_ENST00000368699.1_Splice_Site|S100A14_ENST00000344616.2_5'Flank|S100A14_ENST00000368702.1_5'Flank|S100A13_ENST00000440685.2_Splice_Site|S100A13_ENST00000339556.4_Splice_Site|S100A14_ENST00000368701.1_5'Flank|S100A14_ENST00000368700.3_5'Flank|S100A13_ENST00000392622.1_Splice_Site|S100A13_ENST00000491177.1_Splice_Site	NM_001024212.1	NP_001019383.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13						cytokine secretion (GO:0050663)|interleukin-1 alpha secretion (GO:0050703)|mast cell degranulation (GO:0043303)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cell shape (GO:0008360)|response to copper ion (GO:0046688)|response to electrical stimulus (GO:0051602)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)|Olopatadine(DB00768)	GCCCACATCCTGAGGAGACAC	0.502																																					NSCLC(156;1296 1989 17590 30930 49554)	ENST00000368699.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7						c.e5-2		S100 calcium binding protein A13	Amlexanox(DB01025)						151	156	155					1																	153591516		2203	4300	6503	SO:0001630	splice_region_variant	6284				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding	g.chr1:153591516T>C	AK097132	CCDS30874.1	1q21	2008-02-05	2001-11-28		ENSG00000189171	ENSG00000189171		"S100 calcium binding proteins"	10490	protein-coding gene	gene with protein product		601989	"S100 calcium-binding protein A13"			8985590	Standard	XM_005245434		Approved		uc001fch.3	Q99584	OTTHUMG00000036641	ENST00000392623.1:c.154-2A>G	1.37:g.153591516T>C			Somatic				S100A13_ENST00000339556.4_Splice_Site|S100A13_ENST00000491177.1_Splice_Site|S100A13_ENST00000392623.1_Splice_Site|S100A13_ENST00000440685.2_Splice_Site|S100A13_ENST00000392622.1_Splice_Site		NM_001024210.1	NP_001019381.1	WXS	Illumina GAIIx	Phase_I	Q99584	S10AD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	657	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)							Q52PI9|Q6FGF8	Splice_Site	SNP	ENST00000392623.1	37		CCDS30874.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.334708	0.24253	.	.	ENSG00000189171	ENST00000339556;ENST00000368699;ENST00000440685;ENST00000392623;ENST00000392622	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2151	0.54402	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	S100A13	151858140	0.999000	0.42202	0.963000	0.40424	0.062000	0.15995	4.127000	0.57944	2.148000	0.66965	0.529000	0.55759	.		0.502	S100A13-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089109.3	NM_005979	Intron	101	112	0	0	0	1	0	101	112					C	153591516	T	C	153591516	5	2	21	1	0	0	0	0	0	0	1	0	13790	1594	55	4	148	4	S100A13	1	153591516	Splice_Site	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	806528	153591516	95659105	41	1466										
CRTC2	200186	broad.mit.edu	37	chr1	153923897	153923898	+	Frame_Shift_Ins	INS	-	-	G													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggggtagaagcagggtaagaINSgggggcgcccaaaacaggag							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:153923897_153923898insG	ENST00000368633.1	-	11	1369_1370	c.1242_1243insC	c.(1240-1245)ccctctfs	p.S415fs	CRTC2_ENST00000476883.1_5'Flank|CRTC2_ENST00000368630.3_Frame_Shift_Ins_p.S95fs	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	415					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAGGGTAAGAGGGGGCGCCCA	0.673																																						ENST00000368633.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1240-1245)cccttafs		CREB regulated transcription coactivator 2																																				SO:0001589	frameshift_variant	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153923897_153923898insG	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1243dupC	1.37:g.153923902_153923902dupG	ENSP00000357622:p.Ser415fs		Somatic				CRTC2_ENST00000368630.3_Frame_Shift_Ins_p.PL94fs	p.PL414fs	NM_181715.2	NP_859066.1	WXS	Illumina GAIIx	Phase_I	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		11	1369_1370	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		414					Q6UUV8|Q7Z3X7|Q8N332	Frame_Shift_Ins	INS	ENST00000368633.1	37	c.1242_1243insC	CCDS30875.1																																																																																				0.673	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		10	18						10	18	---	---	---	---	G	153923898	-	G	153923897	7	5	21	1	0	1	1	0	0	0	0	0	3902	304	11	0	854	0	CRTC2	1	153923897	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	332381	153923897	95326724	42	1467										
SLC39A1	27173	broad.mit.edu	37	chr1	153932984	153932984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cccctcgaacacggagtggaGggccagggagaacaccagta	14	12	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:153932984G>T	ENST00000368623.3	-	3	1324	c.565C>A	c.(565-567)Ctc>Atc	p.L189I	CRTC2_ENST00000368633.1_5'Flank|SLC39A1_ENST00000368621.1_Missense_Mutation_p.L189I|CRTC2_ENST00000476883.1_5'Flank|SLC39A1_ENST00000356205.4_Missense_Mutation_p.L189I|CRTC2_ENST00000368630.3_5'Flank|SLC39A1_ENST00000537590.1_Missense_Mutation_p.L87I|SLC39A1_ENST00000461071.1_5'Flank|SLC39A1_ENST00000310483.6_Missense_Mutation_p.L189I			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	189					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	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)	Colorectal(1306;0.019)		ACGGAGTGGAGGGCCAGGGAG	0.677																																						ENST00000368623.3																			0				kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(565-567)Ctc>Atc		solute carrier family 39 (zinc transporter), member 1							45	44	45					1																	153932984		2203	4300	6503	SO:0001583	missense	27173					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity	g.chr1:153932984G>T	BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"Solute carriers"	12876	protein-coding gene	gene with protein product		604740	"zinc/iron regulated transporter-like"	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.565C>A	1.37:g.153932984G>T	ENSP00000357612:p.Leu189Ile		Somatic				SLC39A1_ENST00000537590.1_Missense_Mutation_p.L87I|SLC39A1_ENST00000356205.4_Missense_Mutation_p.L189I|SLC39A1_ENST00000368621.1_Missense_Mutation_p.L189I|SLC39A1_ENST00000310483.6_Missense_Mutation_p.L189I	p.L189I			WXS	Illumina GAIIx	Phase_I	Q9NY26	S39A1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)	3	1324	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		189					B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Missense_Mutation	SNP	ENST00000368623.3	37	c.565C>A	CCDS1055.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081631	0.36758	.	.	ENSG00000143570	ENST00000356205;ENST00000368623;ENST00000368621;ENST00000310483;ENST00000537590;ENST00000543075;ENST00000429040;ENST00000413622;ENST00000417348	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	4.74	3.56	0.40772	.	0.000000	0.53938	D	0.000048	T	0.30198	0.0757	L	0.49350	1.555	0.38519	D	0.948669	P;B	0.44344	0.833;0.048	P;B	0.46362	0.514;0.2	T	0.07366	-1.0776	10	0.37606	T	0.19	-8.2412	8.4011	0.32586	0.1529:0.0:0.8471:0.0	.	87;189	B4DDY7;Q9NY26	.;S39A1_HUMAN	I	189;189;189;189;87;178;189;189;189	ENSP00000348535:L189I;ENSP00000357612:L189I;ENSP00000357610:L189I;ENSP00000309710:L189I;ENSP00000443632:L87I;ENSP00000392950:L189I;ENSP00000392229:L189I;ENSP00000407717:L189I	ENSP00000309710:L189I	L	-	1	0	SLC39A1	152199608	0.973000	0.33851	1.000000	0.80357	0.308000	0.27856	1.780000	0.38634	0.889000	0.36185	0.462000	0.41574	CTC		0.677	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1	NM_014437		31	33	1	0	9.78306e-22	1	1.08194e-21	31	33					T	153932984	G	T	153932984	3	4	21	1	0	0	0	0	1	0	0	0	14627	1000	35	5	413	5	SLC39A1	1	153932984	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	9087	153932984	95317637	43	1468										
ATP1A4	480	broad.mit.edu	37	chr1	160141103	160141103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctgatgatgaagggtgctccGgagaggatcttggagttttg	16	5	1	4	rs142215427		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:160141103G>A	ENST00000368081.4	+	11	2025	c.1554G>A	c.(1552-1554)ccG>ccA	p.P518P		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	518					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGGTGCTCCGGAGAGGATCT	0.502													G|||	1	0.000199681	0	0	5008	,	,		17489	0.001		0	False		,,,				2504	0					ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(1552-1554)ccG>ccA		ATPase, Na+/K+ transporting, alpha 4 polypeptide							138	131	133					1																	160141103		2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160141103G>A	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1554G>A	1.37:g.160141103G>A			Somatic					p.P518P	NM_144699.3	NP_653300.2	WXS	Illumina GAIIx	Phase_I	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		11	2025	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		518					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.1554G>A	CCDS1197.1																																																																																				0.502	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		56	62	0	0	0	1	0	56	62					A	160141103	G	A	160141103	2	1	21	1	0	0	0	0	0	0	0	1	1131	1103	39	1		1	ATP1A4	1	160141103	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	6208119	160141103	89109518	44	1469										
ILDR2	387597	broad.mit.edu	37	chr1	166890248	166890248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cccgcgcgctgcccaggtacGagtggtcgtatttgggtgcg	16	12	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:166890248G>A	ENST00000271417.3	-	9	1635	c.1580C>T	c.(1579-1581)tCg>tTg	p.S527L	ILDR2_ENST00000525740.1_Missense_Mutation_p.S400L|ILDR2_ENST00000526687.1_Missense_Mutation_p.S419L|ILDR2_ENST00000529071.1_Missense_Mutation_p.S508L|ILDR2_ENST00000528703.1_Missense_Mutation_p.S468L|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000529387.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	527					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						GCCCAGGTACGAGTGGTCGTA	0.776																																						ENST00000271417.3																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(1579-1581)tCg>tTg		immunoglobulin-like domain containing receptor 2							3	4	3					1																	166890248		1347	2976	4323	SO:0001583	missense	387597					integral to membrane		g.chr1:166890248G>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.1580C>T	1.37:g.166890248G>A	ENSP00000271417:p.Ser527Leu		Somatic				ILDR2_ENST00000528703.1_Missense_Mutation_p.S468L|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000525740.1_Missense_Mutation_p.S400L|ILDR2_ENST00000529071.1_Missense_Mutation_p.S508L|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000526687.1_Missense_Mutation_p.S419L	p.S527L	NM_199351.2	NP_955383.1	WXS	Illumina GAIIx	Phase_I	Q71H61	ILDR2_HUMAN			9	1635	-			527						Missense_Mutation	SNP	ENST00000271417.3	37	c.1580C>T	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344624	0.61073	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T	0.78707	0.46;-1.17;0.45;-1.2;-0.19	4.55	3.63	0.41609	.	0.867054	0.10225	N	0.700372	T	0.56187	0.1968	L	0.47716	1.5	0.32090	N	0.592014	B	0.24426	0.103	B	0.17098	0.017	T	0.41378	-0.9512	9	0.30854	T	0.27	.	12.6948	0.56997	0.0809:0.0:0.9191:0.0	.	527	Q71H61	ILDR2_HUMAN	L	527;400;508;419;468	ENSP00000271417:S527L;ENSP00000436120:S400L;ENSP00000436882:S508L;ENSP00000434273:S419L;ENSP00000432750:S468L	ENSP00000271417:S527L	S	-	2	0	ILDR2	165156872	1.000000	0.71417	0.001000	0.08648	0.904000	0.53231	4.696000	0.61774	0.888000	0.36160	0.561000	0.74099	TCG		0.776	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		3	7	0	0	0	1	0	3	7					A	166890248	G	A	166890248	3	1	21	1	0	0	0	0	1	0	0	0	7719	1059	37	1	347	1	ILDR2	1	166890248	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	6749145	166890248	82360373	45	1470										
DUSP27	92235	broad.mit.edu	37	chr1	167095958	167095958	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggctctgaggccagttccttCtacaacttctgcagcaggaa	10	12	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:167095958C>A	ENST00000361200.2	+	6	1756	c.1590C>A	c.(1588-1590)ttC>ttA	p.F530L	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.F530L|DUSP27_ENST00000443333.1_Missense_Mutation_p.F530L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	530					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCAGTTCCTTCTACAACTTCT	0.542																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(1588-1590)ttC>ttA		dual specificity phosphatase 27 (putative)							86	82	84					1																	167095958		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095958C>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1590C>A	1.37:g.167095958C>A	ENSP00000354483:p.Phe530Leu		Somatic				DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.F530L|DUSP27_ENST00000271385.5_Missense_Mutation_p.F530L	p.F530L			WXS	Illumina GAIIx	Phase_I	Q5VZP5	DUS27_HUMAN			6	1756	+			530					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.1590C>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574091	0.28092	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.02974	4.09;4.09;4.09	5.09	3.22	0.36961	.	0.172776	0.39146	N	0.001456	T	0.01061	0.0035	L	0.53249	1.67	0.36053	D	0.840927	B	0.29188	0.236	B	0.20767	0.031	T	0.51284	-0.8725	10	0.36615	T	0.2	-23.8781	5.0208	0.14360	0.1458:0.6299:0.0:0.2243	.	530	Q5VZP5	DUS27_HUMAN	L	530	ENSP00000354483:F530L;ENSP00000271385:F530L;ENSP00000404874:F530L	ENSP00000271385:F530L	F	+	3	2	DUSP27	165362582	1.000000	0.71417	0.915000	0.36163	0.923000	0.55619	1.163000	0.31798	0.538000	0.28769	0.643000	0.83706	TTC		0.542	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		47	60	1	0	2.24722e-20	1	2.48213e-20	47	60					A	167095958	C	A	167095958	3	1	21	1	0	0	0	0	1	0	0	0	4826	912	32	2	1608	2	DUSP27	1	167095958	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	205710	167095958	82154663	46	1471										
ABL2	27	broad.mit.edu	37	chr1	179078368	179078368	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agttcgtatttcttatggggCtgattctccatttctcggaa	9	8	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:179078368C>T	ENST00000502732.1	-	12	2237	c.2034G>A	c.(2032-2034)caG>caA	p.Q678Q	ABL2_ENST00000408940.3_Silent_p.Q642Q|ABL2_ENST00000507173.1_Silent_p.Q657Q|ABL2_ENST00000344730.3_Silent_p.Q663Q|ABL2_ENST00000504405.1_Silent_p.Q642Q|ABL2_ENST00000512653.1_Silent_p.Q663Q|ABL2_ENST00000367623.4_Silent_p.Q657Q|ABL2_ENST00000511413.1_Silent_p.Q678Q	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	678					actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|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)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCTTATGGGGCTGATTCTCCA	0.512			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(2032-2034)caG>caA		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						199	212	208					1																	179078368		2203	4300	6503	SO:0001819	synonymous_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179078368C>T	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"SH2 domain containing"	77	protein-coding gene	gene with protein product	"Abelson-related gene"	164690	"v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)", "v-abl Abelson murine leukemia viral oncogene homolog 2", "c-abl oncogene 2, non-receptor tyrosine kinase"	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2034G>A	1.37:g.179078368C>T			Somatic				ABL2_ENST00000504405.1_Silent_p.Q642Q|ABL2_ENST00000344730.3_Silent_p.Q663Q|ABL2_ENST00000511413.1_Silent_p.Q678Q|ABL2_ENST00000367623.4_Silent_p.Q657Q|ABL2_ENST00000408940.3_Silent_p.Q642Q|ABL2_ENST00000507173.1_Silent_p.Q657Q|ABL2_ENST00000512653.1_Silent_p.Q663Q	p.Q678Q	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	WXS	Illumina GAIIx	Phase_I	P42684	ABL2_HUMAN			12	2237	-			678					A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	c.2034G>A	CCDS30947.1																																																																																				0.512	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		86	179	0	0	0	1	0	86	179					T	179078368	C	T	179078368	2	4	21	1	0	0	0	0	0	0	0	1	93	796	28	3		3	ABL2	1	179078368	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	11982410	179078368	70172253	47	1472										
CFHR1	3078	broad.mit.edu	37	chr1	196799690	196799690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggggacattacttcattccCgttgtcagtatatgctccag	9	10	2	0	rs376987946		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:196799690C>T	ENST00000320493.5	+	5	756	c.668C>T	c.(667-669)cCg>cTg	p.P223L	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Missense_Mutation_p.P164L	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	223	Sushi 4. {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						ACTTCATTCCCGTTGTCAGTA	0.413																																						ENST00000320493.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						c.(667-669)cCg>cTg		complement factor H-related 1		C	LEU/PRO	0,3712		0,0,1856	72	86	81		668	3.1	0	1		81	2,8244		1,0,4122	no	missense	CFHR1	NM_002113.2	98	1,0,5978	TT,TC,CC		0.0243,0.0,0.0167	possibly-damaging	223/331	196799690	2,11956	1856	4123	5979	SO:0001583	missense	3078				complement activation	extracellular space		g.chr1:196799690C>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.668C>T	1.37:g.196799690C>T	ENSP00000314299:p.Pro223Leu		Somatic				CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Missense_Mutation_p.P164L	p.P223L	NM_002113.2	NP_002104.2	WXS	Illumina GAIIx	Phase_I	Q03591	FHR1_HUMAN			5	756	+			223			Sushi 4.		A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	ENST00000320493.5	37	c.668C>T	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	7.264	0.605739	0.14002	0.0	2.43E-4	ENSG00000244414	ENST00000367424;ENST00000320493	T;T	0.63580	-0.05;-0.05	4.03	3.1	0.35709	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.57242	0.2040	L	0.50919	1.6	0.09310	N	0.999998	B;D	0.57899	0.421;0.981	B;P	0.51355	0.065;0.667	T	0.47355	-0.9124	9	0.07813	T	0.8	.	6.6837	0.23134	0.0:0.8674:0.0:0.1326	.	223;1124	Q03591;A8K5T0	FHR1_HUMAN;.	L	164;223	ENSP00000356394:P164L;ENSP00000314299:P223L	ENSP00000314299:P223L	P	+	2	0	CFHR1	195066313	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.357000	0.07651	1.754000	0.51921	0.406000	0.27484	CCG		0.413	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		57	8	0	0	0	1	0	57	8					T	196799690	C	T	196799690	3	4	21	1	0	0	0	0	1	0	0	0	3286	652	23	1	686	1	CFHR1	1	196799690	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	17721322	196799690	52450931	48	1473										
PPFIA4	8497	broad.mit.edu	37	chr1	203025953	203025953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caaccccagcagcagcaacaGcagccaggactccctgcaca	8	18	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:203025953G>A	ENST00000447715.2	+	24	2657	c.2216G>A	c.(2215-2217)aGc>aAc	p.S739N	PPFIA4_ENST00000414050.2_Missense_Mutation_p.S468N|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S255N|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S255N|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S255N|PPFIA4_ENST00000367240.2_Missense_Mutation_p.S740N			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	739					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCAGCAACAGCAGCCAGGAC	0.582																																						ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(2218-2220)aGc>aAc		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							26	30	29					1																	203025953		2174	4287	6461	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203025953G>A	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"Sterile alpha motif (SAM) domain containing"	9248	protein-coding gene	gene with protein product	"Liprin-alpha4"	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2216G>A	1.37:g.203025953G>A	ENSP00000402576:p.Ser739Asn		Somatic				PPFIA4_ENST00000599966.1_Missense_Mutation_p.S255N|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S468N|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S255N|PPFIA4_ENST00000447715.2_Missense_Mutation_p.S739N|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S255N	p.S740N			WXS	Illumina GAIIx	Phase_I	O75335	LIPA4_HUMAN			18	2746	+			255					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.2219G>A		.	.	.	.	.	.	.	.	.	.	g	33	5.203271	0.95033	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	4.94	4.94	0.65067	.	0.000000	0.53938	D	0.000045	T	0.35941	0.0949	M	0.71036	2.16	0.51233	D	0.999916	B;P;B;B	0.37423	0.098;0.594;0.09;0.054	B;B;B;B	0.41412	0.109;0.356;0.101;0.047	T	0.10683	-1.0619	10	0.28530	T	0.3	-25.4324	18.3651	0.90388	0.0:0.0:1.0:0.0	.	468;739;255;255	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	N	740;739;255;468;255	ENSP00000356209:S740N;ENSP00000402576:S739N;ENSP00000295706:S255N;ENSP00000400379:S468N;ENSP00000272198:S255N	ENSP00000272198:S255N	S	+	2	0	PPFIA4	201292576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.166000	0.77553	2.556000	0.86216	0.556000	0.70494	AGC		0.582	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		12	14	0	0	0	1	0	12	14					A	203025953	G	A	203025953	3	1	21	1	0	0	0	0	1	0	0	0	12321	971	34	3	786	3	PPFIA4	1	203025953	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	6226263	203025953	46224668	49	1474										
ZC3H11A	9877	broad.mit.edu	37	chr1	203819736	203819736	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggcagtggagatgcacgctgCtgtcattgccgctgtgaagc	15	10	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:203819736C>T	ENST00000545588.1	+	15	5860	c.2033C>T	c.(2032-2034)gCt>gTt	p.A678V	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.A678V|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.A678V|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.A678V|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.A678V	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	678					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGCACGCTGCTGTCATTGCC	0.502																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2032-2034)gCt>gTt		zinc finger CCCH-type containing 11A							88	86	86					1																	203819736		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203819736C>T		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2033C>T	1.37:g.203819736C>T	ENSP00000438527:p.Ala678Val		Somatic				ZC3H11A_ENST00000367210.1_Missense_Mutation_p.A678V|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.A678V|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.A678V|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.A678V	p.A678V	NM_001271675.1	NP_001258604.1	WXS	Illumina GAIIx	Phase_I	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		15	5860	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		678					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.2033C>T	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	35	5.428072	0.96131	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.72	5.72	0.89469	.	0.160968	0.56097	D	0.000028	T	0.64080	0.2566	M	0.70595	2.14	0.42809	D	0.993959	D	0.57899	0.981	P	0.57324	0.818	T	0.60429	-0.7265	10	0.31617	T	0.26	-30.8921	18.6519	0.91433	0.0:1.0:0.0:0.0	.	678	O75152	ZC11A_HUMAN	V	678;624;678;678;678;678	ENSP00000356183:A678V;ENSP00000356181:A678V;ENSP00000333253:A678V;ENSP00000438527:A678V;ENSP00000356179:A678V	ENSP00000333253:A678V	A	+	2	0	ZC3H11A	202086359	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.131000	0.71670	2.704000	0.92352	0.655000	0.94253	GCT		0.502	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		29	40	0	0	0	1	0	29	40					T	203819736	C	T	203819736	3	4	21	1	0	0	0	0	1	0	0	0	17575	797	28	3	2087	3	ZC3H11A	1	203819736	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	793783	203819736	45430885	50	1475										
NUAK2	81788	broad.mit.edu	37	chr1	205290640	205290640	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttgtggtggtgccgcttcacCgcctgcttcttcattagggg	13	11	3	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:205290640C>T	ENST00000367157.3	-	1	243	c.117G>A	c.(115-117)gcG>gcA	p.A39A		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCCGCTTCACCGCCTGCTTCT	0.672																																						ENST00000367157.3																			0				breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(115-117)gcG>gcA		NUAK family, SNF1-like kinase, 2							53	54	53					1																	205290640		2203	4300	6503	SO:0001819	synonymous_variant	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205290640C>T	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.117G>A	1.37:g.205290640C>T			Somatic					p.A39A	NM_030952.1	NP_112214.1	WXS	Illumina GAIIx	Phase_I	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		1	243	-	Breast(84;0.186)		39						Silent	SNP	ENST00000367157.3	37	c.117G>A	CCDS1453.1																																																																																				0.672	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952		3	45	0	0	0	1	0	3	45					T	205290640	C	T	205290640	2	4	21	1	0	0	0	0	0	0	0	1	10722	639	23	1		1	NUAK2	1	205290640	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1470904	205290640	43959981	51	1476										
USH2A	7399	broad.mit.edu	37	chr1	215853543	215853543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	accactgtagtagcaatgccCggccattctctttctgttct	7	13	3	0	rs541873542	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:215853543C>T	ENST00000307340.3	-	62	12628	c.12242G>A	c.(12241-12243)cGg>cAg	p.R4081Q	USH2A_ENST00000366943.2_Missense_Mutation_p.R4081Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4081	Fibronectin type-III 26. {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)		TAGCAATGCCCGGCCATTCTC	0.408										HNSCC(13;0.011)			C|||	2	0.000399361	0	0	5008	,	,		19292	0		0	False		,,,				2504	0.002					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.(12241-12243)cGg>cAg		Usher syndrome 2A (autosomal recessive, mild)							168	156	160					1																	215853543		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.chr1:215853543C>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.12242G>A	1.37:g.215853543C>T	ENSP00000305941:p.Arg4081Gln	HNSCC(13;0.011)	Somatic				USH2A_ENST00000307340.3_Missense_Mutation_p.R4081Q	p.R4081Q			WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	62	12628	-			4081			Fibronectin type-III 26.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.12242G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324104	0.60634	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54279	0.58;0.58	5.26	2.31	0.28768	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.202899	0.22491	N	0.059371	T	0.41789	0.1174	L	0.54965	1.715	0.39751	D	0.97189	B	0.30193	0.272	B	0.17433	0.018	T	0.33471	-0.9867	10	0.40728	T	0.16	.	8.9881	0.36005	0.0:0.7097:0.0:0.2902	.	4081	O75445	USH2A_HUMAN	Q	4081	ENSP00000305941:R4081Q;ENSP00000355910:R4081Q	ENSP00000305941:R4081Q	R	-	2	0	USH2A	213920166	0.555000	0.26530	0.889000	0.34880	0.969000	0.65631	0.745000	0.26259	0.597000	0.29811	0.655000	0.94253	CGG		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		47	74	0	0	0	1	0	47	74					T	215853543	C	T	215853543	3	4	21	1	0	0	0	0	1	0	0	0	17051	652	23	1	3410	1	USH2A	1	215853543	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	10562903	215853543	33397078	52	1477										
LIN9	286826	broad.mit.edu	37	chr1	226453981	226453981	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcataaaaaatcgagaaggcCgctgtttttgtccaaaggca	9	8	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:226453981C>A	ENST00000328205.5	-	9	1462	c.917G>T	c.(916-918)cGg>cTg	p.R306L	LIN9_ENST00000481685.1_Missense_Mutation_p.R271L|LIN9_ENST00000366801.1_Missense_Mutation_p.R255L	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	290					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TCGAGAAGGCCGCTGTTTTTG	0.338																																					Ovarian(197;1696 2974 11248 14117)	ENST00000328205.5																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(916-918)cGg>cTg		lin-9 homolog (C. elegans)							61	62	62					1																	226453981		2203	4300	6503	SO:0001583	missense	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226453981C>A	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"TUDOR gene similar", "rb related pathway actor"	609375	"lin-9 homolog (C. elegans)"			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.917G>T	1.37:g.226453981C>A	ENSP00000329102:p.Arg306Leu		Somatic				LIN9_ENST00000481685.1_Missense_Mutation_p.R271L|LIN9_ENST00000366801.1_Missense_Mutation_p.R255L	p.R306L	NM_173083.3	NP_775106.2	WXS	Illumina GAIIx	Phase_I	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	9	1462	-	Breast(184;0.158)		290					Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	c.917G>T	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.505774	0.64410	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.59	4.68	0.58851	.	0.054512	0.64402	D	0.000001	T	0.78413	0.4279	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79784	0.956;0.99;0.993	T	0.79794	-0.1653	9	0.46703	T	0.11	.	14.4975	0.67700	0.0:0.9297:0.0:0.0703	.	271;290;440	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	L	266;306;361;255;271;440	.	ENSP00000329102:R306L	R	-	2	0	LIN9	224520604	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	6.795000	0.75140	1.381000	0.46364	-0.258000	0.10820	CGG		0.338	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		15	11	1	0	0.000308642	1	0.000313286	15	11					A	226453981	C	A	226453981	3	1	21	1	0	0	0	0	1	0	0	0	8822	652	23	5	787	5	LIN9	1	226453981	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	10600438	226453981	22796640	53	1478										
JMJD4	65094	broad.mit.edu	37	chr1	227922791	227922791	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccggctgccccagccctgcgTgaaggcgctggaaaacacgc	13	16	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:227922791T>C	ENST00000366758.3	-	1	321	c.322A>G	c.(322-324)Acg>Gcg	p.T108A	SNAP47_ENST00000366759.4_5'UTR|SNAP47_ENST00000315781.5_5'UTR|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Missense_Mutation_p.T108A|JMJD4_ENST00000485807.1_5'Flank	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	108										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)				CAGCCCTGCGTGAAGGCGCTG	0.721																																						ENST00000366758.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9						c.(322-324)Acg>Gcg		jumonji domain containing 4							3	4	4					1																	227922791		1792	3730	5522	SO:0001583	missense	65094							g.chr1:227922791T>C	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.322A>G	1.37:g.227922791T>C	ENSP00000355720:p.Thr108Ala		Somatic				SNAP47_ENST00000366759.4_5'UTR|SNAP47_ENST00000315781.5_5'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.T108A|SNAP47_ENST00000366760.1_Intron	p.T108A	NM_023007.2	NP_075383.2	WXS	Illumina GAIIx	Phase_I	Q9H9V9	JMJD4_HUMAN			1	321	-		Prostate(94;0.0885)	108					Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	c.322A>G	CCDS1561.1	.	.	.	.	.	.	.	.	.	.	T	19.17	3.775254	0.70107	.	.	ENSG00000081692	ENST00000366758	T	0.21361	2.01	5.07	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.26412	0.0645	L	0.56199	1.76	0.52501	D	0.999957	P;P	0.45126	0.851;0.771	P;P	0.49829	0.623;0.579	T	0.01360	-1.1375	10	0.33940	T	0.23	-37.8018	8.2836	0.31915	0.0:0.0944:0.0:0.9056	.	108;108	Q9H9V9-2;Q9H9V9	.;JMJD4_HUMAN	A	108	ENSP00000355720:T108A	ENSP00000355720:T108A	T	-	1	0	JMJD4	225989414	1.000000	0.71417	0.996000	0.52242	0.267000	0.26476	5.080000	0.64437	1.899000	0.54978	0.443000	0.29094	ACG		0.721	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		4	16	0	0	0	1	0	4	16					C	227922791	T	C	227922791	3	2	21	1	0	0	0	0	1	0	0	0	7960	1696	59	4	1093	4	JMJD4	1	227922791	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1468810	227922791	21327830	54	1479										
OBSCN	84033	broad.mit.edu	37	chr1	228474715	228474715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgtgaggctgggggcgcctgCagcagctccattgtcagggt	17	10	1	1	rs201932883	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:228474715C>T	ENST00000422127.1	+	35	9563	c.9519C>T	c.(9517-9519)tgC>tgT	p.C3173C	OBSCN_ENST00000359599.6_Silent_p.C2020C|OBSCN_ENST00000366709.4_Silent_p.C292C|OBSCN_ENST00000366707.4_Silent_p.C292C|OBSCN_ENST00000284548.11_Silent_p.C3173C|OBSCN_ENST00000570156.2_Silent_p.C3602C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3173	Ig-like 31.				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)				GGGGCGCCTGCAGCAGCTCCA	0.652													C|||	2	0.000399361	8e-04	0.0014	5008	,	,		16656	0		0	False		,,,				2504	0					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.(10804-10806)tgC>tgT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	,	0,4016		0,0,2008	9	12	11		9519,9519	-1.7	0.6	1		11	3,8339		0,3,4168	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,3,6176	TT,TC,CC		0.036,0.0,0.0243	,	3173/7969,3173/6621	228474715	3,12355	2008	4171	6179	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.chr1:228474715C>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.9519C>T	1.37:g.228474715C>T			Somatic				OBSCN_ENST00000366709.4_Silent_p.C292C|OBSCN_ENST00000284548.11_Silent_p.C3173C|OBSCN_ENST00000359599.6_Silent_p.C2020C|OBSCN_ENST00000422127.1_Silent_p.C3173C|OBSCN_ENST00000366707.4_Silent_p.C292C	p.C3602C	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			40	10880	+		Prostate(94;0.0405)	2635			Ig-like 36.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.10806C>T	CCDS58065.1																																																																																				0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		3	9	0	0	0	1	0	3	9					T	228474715	C	T	228474715	2	4	21	1	0	0	0	0	0	0	0	1	10821	718	25	3		3	OBSCN	1	228474715	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	551924	228474715	20775906	55	1480										
CAPN9	10753	broad.mit.edu	37	chr1	230907846	230907846	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aacgggtcgtggagcgacagGtcagtcaccctatcctgcct	12	13	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:230907846G>A	ENST00000271971.2	+	7	988		c.e7+1		CAPN9_ENST00000354537.1_Splice_Site|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Splice_Site	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9						digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			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)				GGAGCGACAGGTCAGTCACCC	0.597																																						ENST00000354537.1																			0				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.e7+1		calpain 9							79	71	74					1																	230907846		2203	4300	6503	SO:0001630	splice_region_variant	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230907846G>A	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.875+1G>A	1.37:g.230907846G>A			Somatic				CAPN9_ENST00000366666.2_Splice_Site|CAPN9_ENST00000271971.2_Splice_Site|RP11-99J16__A.2_ENST00000412344.1_RNA		NM_016452.1	NP_057536.1	WXS	Illumina GAIIx	Phase_I	O14815	CAN9_HUMAN			7	957	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)						B1APS1|B1AQI0|Q9NS74	Splice_Site	SNP	ENST00000271971.2	37		CCDS1586.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757654	0.89843	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0791	0.89437	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAPN9	228974469	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.514000	0.98013	2.502000	0.84385	0.655000	0.94253	.		0.597	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615	Intron	37	57	0	0	0	1	0	37	57					A	230907846	G	A	230907846	5	1	21	1	0	0	0	0	0	0	1	0	2634	1275	44	3	902	3	CAPN9	1	230907846	Splice_Site	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2433131	230907846	18342775	56	1481										
KIAA1804	84451	broad.mit.edu	37	chr1	233515338	233515338	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gacactgattgtagtgtatcAagaaacttgccgtcttcctt	8	9	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:233515338A>G	ENST00000366624.3	+	9	2847	c.2586A>G	c.(2584-2586)tcA>tcG	p.S862S	MLK4_ENST00000366622.1_Silent_p.S308S	NM_032435.2	NP_115811.2																					GTAGTGTATCAAGAAACTTGC	0.498																																						ENST00000366624.3																			0											c.(2584-2586)tcA>tcG									98	87	91					1																	233515338		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:233515338A>G																												ENST00000366624.3:c.2586A>G	1.37:g.233515338A>G			Somatic				MLK4_ENST00000366622.1_Silent_p.S308S	p.S862S	NM_032435.2	NP_115811.2	WXS	Illumina GAIIx	Phase_I					9	2847	+									Silent	SNP	ENST00000366624.3	37	c.2586A>G	CCDS1598.1																																																																																				0.498	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			7	72	0	0	0	1	0	7	72					G	233515338	A	G	233515338	2	3	21	1	0	0	0	0	0	0	0	1	8268	117	5	4		4	KIAA1804	1	233515338	Silent	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	2607492	233515338	15735283	57	1482										
FMN2	56776	broad.mit.edu	37	chr1	240601375	240601375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgacagctttttggagaccaCggcatatttcttcatgaaac	8	9	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:240601375C>T	ENST00000319653.9	+	16	5155	c.4925C>T	c.(4924-4926)aCg>aTg	p.T1642M	FMN2_ENST00000545751.1_Missense_Mutation_p.T238M	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1642	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)			TTGGAGACCACGGCATATTTC	0.378																																						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.(4924-4926)aCg>aTg		formin 2							131	130	131					1																	240601375		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.chr1:240601375C>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.4925C>T	1.37:g.240601375C>T	ENSP00000318884:p.Thr1642Met		Somatic				FMN2_ENST00000545751.1_Missense_Mutation_p.T238M	p.T1642M	NM_020066.4	NP_064450.3	WXS	Illumina GAIIx	Phase_I	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		16	5155	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1642			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4925C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	9.172	1.021285	0.19433	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.17213	2.29;2.29	6.0	5.05	0.67936	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.312036	0.26553	N	0.023740	T	0.22205	0.0535	N	0.11870	0.19	0.80722	D	1	P;D;P	0.89917	0.95;1.0;0.546	P;D;B	0.66847	0.751;0.947;0.293	T	0.11060	-1.0603	10	0.29301	T	0.29	.	14.2726	0.66159	0.0:0.9251:0.0:0.0749	.	238;271;1642	B4DP05;B4DN09;Q9NZ56	.;.;FMN2_HUMAN	M	1642;238;269;118	ENSP00000318884:T1642M;ENSP00000437918:T238M	ENSP00000318884:T1642M	T	+	2	0	FMN2	238667998	0.566000	0.26618	0.996000	0.52242	0.110000	0.19582	2.921000	0.48852	1.461000	0.47929	-0.366000	0.07423	ACG		0.378	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		38	77	0	0	0	1	0	38	77					T	240601375	C	T	240601375	3	4	21	1	0	0	0	0	1	0	0	0	5958	536	19	1	4987	1	FMN2	1	240601375	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	7086037	240601375	8649246	58	1483										
RGS7	6000	broad.mit.edu	37	chr1	241033369	241033369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acttacagcctcatagtctgCgagctccagtcgtgccttgt	9	13	2	0	rs149172715	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:241033369C>T	ENST00000407727.1	-	6	435	c.436G>A	c.(436-438)Gca>Aca	p.A146T	RGS7_ENST00000366563.1_Missense_Mutation_p.A146T|RGS7_ENST00000366564.1_Missense_Mutation_p.A146T|RGS7_ENST00000366565.1_Missense_Mutation_p.A146T|RGS7_ENST00000331110.7_Missense_Mutation_p.A120T|RGS7_ENST00000446183.2_Missense_Mutation_p.A62T|RGS7_ENST00000366562.4_Missense_Mutation_p.A146T|RGS7_ENST00000401882.1_Missense_Mutation_p.A93T|RGS7_ENST00000348120.2_Missense_Mutation_p.A93T			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	146					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCATAGTCTGCGAGCTCCAGT	0.458																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(436-438)Gca>Aca		regulator of G-protein signaling 7		C	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	241	202	215		436	5.9	0.8	1	dbSNP_134	215	0,8600		0,0,4300	no	missense	RGS7	NM_002924.4	58	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging	146/488	241033369	3,13003	2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241033369C>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.436G>A	1.37:g.241033369C>T	ENSP00000384428:p.Ala146Thr		Somatic				RGS7_ENST00000401882.1_Missense_Mutation_p.A93T|RGS7_ENST00000366563.1_Missense_Mutation_p.A146T|RGS7_ENST00000446183.2_Missense_Mutation_p.A62T|RGS7_ENST00000366562.4_Missense_Mutation_p.A146T|RGS7_ENST00000366564.1_Missense_Mutation_p.A146T|RGS7_ENST00000348120.2_Missense_Mutation_p.A93T|RGS7_ENST00000331110.7_Missense_Mutation_p.A120T|RGS7_ENST00000407727.1_Missense_Mutation_p.A146T	p.A146T	NM_002924.4	NP_002915.3	WXS	Illumina GAIIx	Phase_I	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		7	817	-		all_cancers(173;0.0131)	146					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.436G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.138481	0.94560	6.81E-4	0.0	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T	0.32272	1.47;1.47;1.47;1.47;1.48;1.47;1.47;1.46;1.48	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	L	0.52364	1.645	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.997	D;D;D;D;D;P	0.91635	0.973;0.999;0.999;0.988;0.995;0.886	T	0.33675	-0.9859	10	0.39692	T	0.17	-19.9496	19.1736	0.93590	0.0:1.0:0.0:0.0	.	62;120;93;146;146;146	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3	.;.;.;.;.;.	T	120;146;146;146;93;62;146;146;93	ENSP00000331485:A120T;ENSP00000355523:A146T;ENSP00000355522:A146T;ENSP00000355521:A146T;ENSP00000341242:A93T;ENSP00000390138:A62T;ENSP00000355520:A146T;ENSP00000384428:A146T;ENSP00000385508:A93T	ENSP00000331485:A120T	A	-	1	0	RGS7	239099992	1.000000	0.71417	0.797000	0.32132	0.932000	0.56968	7.706000	0.84615	2.766000	0.95052	0.591000	0.81541	GCA		0.458	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		30	44	0	0	0	1	0	30	44					T	241033369	C	T	241033369	3	4	21	1	0	0	0	0	1	0	0	0	13325	768	27	1	1075	1	RGS7	1	241033369	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	431994	241033369	8217252	59	1484										
OR2L2	26246	broad.mit.edu	37	chr1	248201969	248201969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttcctctccactatcccatcCgtataagcaaaagagtgtgt	6	12	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:248201969C>T	ENST00000366479.2	+	1	496	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, 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)			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)			CTATCCCATCCGTATAAGCAA	0.428																																						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.(400-402)Cgt>Tgt		olfactory receptor, family 2, subfamily L, member 2							178	157	164					1																	248201969		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201969C>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.400C>T	1.37:g.248201969C>T	ENSP00000355435:p.Arg134Cys		Somatic				OR2L13_ENST00000366478.2_Intron	p.R134C	NM_001004686.2	NP_001004686.1	WXS	Illumina GAIIx	Phase_I	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	496	+	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)		134					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.400C>T	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	5.436	0.265483	0.10294	.	.	ENSG00000203663	ENST00000366479	T	0.01335	5.0	1.9	-3.19	0.05171	GPCR, rhodopsin-like superfamily (1);	1.441270	0.05467	U	0.552397	T	0.01387	0.0045	L	0.36672	1.1	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.49495	-0.8934	10	0.66056	D	0.02	.	1.9651	0.03394	0.4492:0.2856:0.1494:0.1158	.	134	Q8NH16	OR2L2_HUMAN	C	134	ENSP00000355435:R134C	ENSP00000355435:R134C	R	+	1	0	OR2L2	246268592	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-3.198000	0.00561	-0.448000	0.07128	0.194000	0.17425	CGT		0.428	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		53	70	0	0	0	1	0	53	70					T	248201969	C	T	248201969	3	4	21	1	0	0	0	0	1	0	0	0	11016	652	23	1	402	1	OR2L2	1	248201969	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	7168600	248201969	1048652	60	1485										
ROCK2	9475	broad.mit.edu	37	chr2	11332603	11332603	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aaggtgctataatctcctccTttttgtccatatgatcttta							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:11332603delT	ENST00000315872.6	-	31	4371	c.3923delA	c.(3922-3924)aagfs	p.K1308fs	ROCK2_ENST00000401753.1_Frame_Shift_Del_p.K1065fs	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1308	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		AATCTCCTCCTTTTTGTCCAT	0.388																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(3922-3924)agfs		Rho-associated, coiled-coil containing protein kinase 2							103	96	98					2																	11332603		1866	4097	5963	SO:0001589	frameshift_variant	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.chr2:11332603delT	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.3923delA	2.37:g.11332603delT	ENSP00000317985:p.Lys1308fs		Somatic				ROCK2_ENST00000401753.1_Frame_Shift_Del_p.K1065fs	p.K1308fs	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)	31	4371	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1308			PH.		Q53QZ0|Q53SJ7|Q9UQN5	Frame_Shift_Del	DEL	ENST00000315872.6	37	c.3923delA	CCDS42654.1																																																																																				0.388	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			34	64						34	64	---	---	---	---	-	11332603	T	-	11332603	7	5	21	1	0	1	0	1	0	0	0	0	13533	1609	56	0	255	0	ROCK2	2	11332603	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08		11332603	231866770	61	1486										
RAD51AP2	729475	broad.mit.edu	37	chr2	17698825	17698825	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aaatccctaacatatgcctcTtttttgtcattctttttctt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:17698825delT	ENST00000399080.2	-	1	881	c.858delA	c.(856-858)aaafs	p.K286fs		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	286										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)					CATATGCCTCTTTTTTGTCAT	0.353																																						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.(856-858)aafs		RAD51 associated protein 2							187	167	173					2																	17698825		1818	4075	5893	SO:0001589	frameshift_variant	729475							g.chr2:17698825delT	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.858delA	2.37:g.17698825delT	ENSP00000382030:p.Lys286fs		Somatic					p.K286fs	NM_001099218.2	NP_001092688.1	WXS	Illumina GAIIx	Phase_I	Q09MP3	R51A2_HUMAN			1	881	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		286						Frame_Shift_Del	DEL	ENST00000399080.2	37	c.858delA	CCDS42656.1																																																																																				0.353	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		17	31						17	31	---	---	---	---	-	17698825	T	-	17698825	7	5	21	1	0	1	0	1	0	0	0	0	13002	1606	56	0	2633	0	RAD51AP2	2	17698825	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	6366222	17698825	225500548	62	1487										
NCOA1	8648	broad.mit.edu	37	chr2	24905856	24905856	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tctttgttgtgaactgtgaaGggagaattgtatttgtgtca	12	3	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:24905856G>T	ENST00000406961.1	+	8	1043	c.391G>T	c.(391-393)Ggg>Tgg	p.G131W	NCOA1_ENST00000288599.5_Missense_Mutation_p.G131W|NCOA1_ENST00000407230.1_5'UTR|NCOA1_ENST00000395856.3_Missense_Mutation_p.G131W|NCOA1_ENST00000538539.1_Missense_Mutation_p.G131W|NCOA1_ENST00000348332.3_Missense_Mutation_p.G131W|NCOA1_ENST00000405141.1_Missense_Mutation_p.G131W			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	131	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)	p.G131W(1)	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)					GAACTGTGAAGGGAGAATTGT	0.368			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	1	Substitution - Missense(1)	p.G131W(1)	ovary(1)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(391-393)Ggg>Tgg		nuclear receptor coactivator 1							100	98	99					2																	24905856		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24905856G>T	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.391G>T	2.37:g.24905856G>T	ENSP00000385216:p.Gly131Trp		Somatic				NCOA1_ENST00000348332.3_Missense_Mutation_p.G131W|NCOA1_ENST00000407230.1_5'UTR|NCOA1_ENST00000406961.1_Missense_Mutation_p.G131W|NCOA1_ENST00000288599.5_Missense_Mutation_p.G131W|NCOA1_ENST00000538539.1_Missense_Mutation_p.G131W|NCOA1_ENST00000395856.3_Missense_Mutation_p.G131W	p.G131W			WXS	Illumina GAIIx	Phase_I	Q15788	NCOA1_HUMAN			9	1102	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		131			PAS.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.391G>T	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799202	0.90538	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	5.55	5.55	0.83447	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.76118	0.3943	H	0.98068	4.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85450	0.1160	10	0.87932	D	0	.	19.0969	0.93255	0.0:0.0:1.0:0.0	.	131;131;131	Q15788-3;Q15788;Q15788-2	.;NCOA1_HUMAN;.	W	131	ENSP00000385216:G131W;ENSP00000385097:G131W;ENSP00000444039:G131W;ENSP00000320940:G131W;ENSP00000288599:G131W;ENSP00000379197:G131W	ENSP00000288599:G131W	G	+	1	0	NCOA1	24759360	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.616000	0.88540	0.655000	0.94253	GGG		0.368	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		18	41	1	0	2.37509e-13	1	2.54019e-13	18	41					T	24905856	G	T	24905856	3	4	21	1	0	0	0	0	1	0	0	0	10237	1000	35	5	405	5	NCOA1	2	24905856	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	7207031	24905856	218293517	63	1488										
ADCY3	109	broad.mit.edu	37	chr2	25050931	25050931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggcgatgagggacagcacggCcacatagttgtaatacttgg	14	8	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:25050931C>T	ENST00000260600.5	-	13	3123	c.2272G>A	c.(2272-2274)Gcc>Acc	p.A758T	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000405392.1_Intron|ADCY3_ENST00000450524.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	758					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)					GACAGCACGGCCACATAGTTG	0.597											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(2272-2274)Gcc>Acc		adenylate cyclase 3							111	86	95					2																	25050931		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.chr2:25050931C>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.2272G>A	2.37:g.25050931C>T	ENSP00000260600:p.Ala758Thr		Somatic	OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	776	ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Intron	p.A758T	NM_004036.3	NP_004027.2	WXS	Illumina GAIIx	Phase_I	O60266	ADCY3_HUMAN			13	3123	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		758					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.2272G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803993	0.70682	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000455323;ENST00000450524	T;T;T	0.76578	-1.03;-1.03;-1.03	5.0	5.0	0.66597	.	0.053826	0.85682	D	0.000000	T	0.69242	0.3089	L	0.31664	0.95	0.80722	D	1	B;B	0.33883	0.43;0.43	B;B	0.34038	0.122;0.174	T	0.67937	-0.5541	10	0.33141	T	0.24	.	18.1003	0.89504	0.0:1.0:0.0:0.0	.	758;758	B7ZLX9;O60266	.;ADCY3_HUMAN	T	758;733;97;101	ENSP00000260600:A758T;ENSP00000402008:A97T;ENSP00000410972:A101T	ENSP00000260600:A758T	A	-	1	0	ADCY3	24904435	1.000000	0.71417	0.642000	0.29436	0.861000	0.49209	7.573000	0.82421	2.608000	0.88229	0.561000	0.74099	GCC		0.597	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			29	27	0	0	0	1	0	29	27					T	25050931	C	T	25050931	3	4	21	1	0	0	0	0	1	0	0	0	295	739	26	3	1198	3	ADCY3	2	25050931	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	145075	25050931	218148442	64	1489										
ASXL2	55252	broad.mit.edu	37	chr2	25990452	25990452	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtctttgtaagcaaacttacTggtatggagtctctcagatc	9	8	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:25990452T>C	ENST00000435504.4	-	8	1068	c.775A>G	c.(775-777)Aga>Gga	p.R259G	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_Splice_Site_p.R231G|ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000497092.1_5'Flank			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	259					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)	p.R259*(1)		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)					GCAAACTTACTGGTATGGAGT	0.373																																						ENST00000435504.4																			1	Substitution - Nonsense(1)	p.R259*(1)	urinary_tract(1)	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.e8+1		additional sex combs like 2 (Drosophila)							106	101	103					2																	25990452		1859	4096	5955	SO:0001630	splice_region_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25990452T>C			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.775+1A>G	2.37:g.25990452T>C			Somatic				ASXL2_ENST00000336112.4_Splice_Site_p.R231_splice|ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR	p.R259_splice			WXS	Illumina GAIIx	Phase_I	Q76L83	ASXL2_HUMAN			8	1068	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		259					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Splice_Site	SNP	ENST00000435504.4	37	c.775_splice		.	.	.	.	.	.	.	.	.	.	T	8.683	0.905551	0.17760	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.17054	2.3;2.3	5.53	3.1	0.35709	.	0.049112	0.85682	D	0.000000	T	0.13415	0.0325	L	0.36672	1.1	0.80722	D	1	B	0.13594	0.008	B	0.18561	0.022	T	0.08785	-1.0705	9	.	.	.	-5.2202	11.6856	0.51483	0.0:0.0:0.2814:0.7186	.	259	Q76L83	ASXL2_HUMAN	G	259;231	ENSP00000391447:R259G;ENSP00000337250:R231G	.	R	-	1	2	ASXL2	25843956	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.413000	0.44618	0.369000	0.24510	0.533000	0.62120	AGA		0.373	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263	Missense_Mutation	15	29	0	0	0	1	0	15	29					C	25990452	T	C	25990452	5	2	21	1	0	0	0	0	0	0	1	0	1067	1594	55	4	3556	4	ASXL2	2	25990452	Splice_Site	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	939521	25990452	217208921	65	1490										
SLC5A6	8884	broad.mit.edu	37	chr2	27423872	27423872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acagcaggtactacctggccGtagctcctgcagtggagccg	13	13	0	0	rs140378947		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:27423872G>A	ENST00000310574.3	-	16	2231	c.1758C>T	c.(1756-1758)taC>taT	p.Y586Y	SLC5A6_ENST00000461319.1_5'Flank|SLC5A6_ENST00000408041.1_Silent_p.Y586Y	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	586					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CTACCTGGCCGTAGCTCCTGC	0.592													g|||	1	0.000199681	8e-04	0	5008	,	,		15636	0		0	False		,,,				2504	0					ENST00000310574.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20						c.(1756-1758)taC>taT		solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	Biotin(DB00121)|Lipoic Acid(DB00166)	A		2,4404	4.2+/-10.8	0,2,2201	79	74	76		1758	0.3	0	2	dbSNP_134	76	0,8598		0,0,4299	no	coding-synonymous	SLC5A6	NM_021095.2		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		586/636	27423872	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27423872G>A	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1758C>T	2.37:g.27423872G>A			Somatic				SLC5A6_ENST00000408041.1_Silent_p.Y586Y	p.Y586Y	NM_021095.2	NP_066918.2	WXS	Illumina GAIIx	Phase_I	Q9Y289	SC5A6_HUMAN			16	2231	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		586					B2RB85|D6W549|Q969Y5	Silent	SNP	ENST00000310574.3	37	c.1758C>T	CCDS1740.1																																																																																				0.592	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		4	23	0	0	0	1	0	4	23					A	27423872	G	A	27423872	2	1	21	1	0	0	0	0	0	0	0	1	14684	1140	40	1		1	SLC5A6	2	27423872	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1433420	27423872	215775501	66	1491										
ALK	238	broad.mit.edu	37	chr2	29449848	29449848	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtcacagaagcagatgacctTgtggctttcagggtccatgt	12	9	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:29449848T>C	ENST00000389048.3	-	18	3913	c.3007A>G	c.(3007-3009)Aag>Gag	p.K1003E	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1003					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)	CAGATGACCTTGTGGCTTTCA	0.557			"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.(3007-3009)Aag>Gag		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						241	213	223					2																	29449848		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.chr2:29449848T>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.3007A>G	2.37:g.29449848T>C	ENSP00000373700:p.Lys1003Glu		Somatic				ALK_ENST00000431873.1_Intron	p.K1003E	NM_004304.4	NP_004295.2	WXS	Illumina GAIIx	Phase_I	Q9UM73	ALK_HUMAN			18	3913	-	Acute lymphoblastic leukemia(172;0.155)		1003					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.3007A>G	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.850275	0.32699	.	.	ENSG00000171094	ENST00000389048	T	0.76578	-1.03	5.38	1.39	0.22231	.	0.000000	0.46758	U	0.000274	T	0.61362	0.2341	L	0.31065	0.9	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.43212	-0.9405	9	.	.	.	.	8.0637	0.30648	0.0:0.0704:0.3938:0.5358	.	1003	Q9UM73	ALK_HUMAN	E	1003	ENSP00000373700:K1003E	.	K	-	1	0	ALK	29303352	0.681000	0.27614	0.987000	0.45799	0.882000	0.50991	0.442000	0.21628	-0.004000	0.14419	0.383000	0.25322	AAG		0.557	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		58	143	0	0	0	1	0	58	143					C	29449848	T	C	29449848	3	2	21	1	0	0	0	0	1	0	0	0	525	1821	63	4	1903	4	ALK	2	29449848	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2025976	29449848	213749525	67	1492										
BIRC6	57448	broad.mit.edu	37	chr2	32768513	32768513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgcttttggattatttcttcGtcttccgggctatgcggaag	11	8	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:32768513G>A	ENST00000421745.2	+	62	12631	c.12497G>A	c.(12496-12498)cGt>cAt	p.R4166H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4166					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)					TTATTTCTTCGTCTTCCGGGC	0.483																																					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.(12496-12498)cGt>cAt		baculoviral IAP repeat containing 6							244	211	222					2																	32768513		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32768513G>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.12497G>A	2.37:g.32768513G>A	ENSP00000393596:p.Arg4166His		Somatic					p.R4166H	NM_016252.3	NP_057336.3	WXS	Illumina GAIIx	Phase_I	Q9NR09	BIRC6_HUMAN			62	12631	+	Acute lymphoblastic leukemia(172;0.155)		4166					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.12497G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	35	5.437044	0.96168	.	.	ENSG00000115760	ENST00000421745	T	0.78816	-1.21	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.86426	0.5930	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.87171	0.2221	10	0.87932	D	0	.	19.4789	0.95000	0.0:0.0:1.0:0.0	.	4166	Q9NR09	BIRC6_HUMAN	H	4166	ENSP00000393596:R4166H	ENSP00000393596:R4166H	R	+	2	0	BIRC6	32622017	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.598000	0.87819	0.650000	0.86243	CGT		0.483	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		92	132	0	0	0	1	0	92	132					A	32768513	G	A	32768513	3	1	21	1	0	0	0	0	1	0	0	0	1438	1145	40	1	12743	1	BIRC6	2	32768513	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3318665	32768513	210430860	68	1493										
PRKD3	23683	broad.mit.edu	37	chr2	37506904	37506904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	attacctgattgttttaacgGcttcttcatctctttccaca	4	11	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:37506904G>A	ENST00000379066.1	-	8	1919	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V	PRKD3_ENST00000234179.2_Missense_Mutation_p.A386V			O94806	KPCD3_HUMAN	protein kinase D3	386					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)				TGTTTTAACGGCTTCTTCATC	0.408																																					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.(1156-1158)gCc>gTc		protein kinase D3							83	84	84					2																	37506904		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.chr2:37506904G>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.1157C>T	2.37:g.37506904G>A	ENSP00000368356:p.Ala386Val		Somatic				PRKD3_ENST00000234179.2_Missense_Mutation_p.A386V	p.A386V			WXS	Illumina GAIIx	Phase_I	O94806	KPCD3_HUMAN			8	1919	-		all_hematologic(82;0.21)	386					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.1157C>T	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664492	0.67700	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.66099	-0.19;-0.19	5.79	5.79	0.91817	.	0.418608	0.26631	N	0.023314	T	0.52773	0.1755	L	0.29908	0.895	0.40626	D	0.981813	B;B	0.10296	0.003;0.001	B;B	0.13407	0.009;0.007	T	0.44498	-0.9324	10	0.26408	T	0.33	-2.2646	18.196	0.89822	0.0:0.0:1.0:0.0	.	386;386	O94806-2;O94806	.;KPCD3_HUMAN	V	386	ENSP00000368356:A386V;ENSP00000234179:A386V	ENSP00000234179:A386V	A	-	2	0	PRKD3	37360408	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	9.060000	0.93907	2.742000	0.94016	0.591000	0.81541	GCC		0.408	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		21	58	0	0	0	1	0	21	58					A	37506904	G	A	37506904	3	1	21	1	0	0	0	0	1	0	0	0	12532	1203	42	3	1563	3	PRKD3	2	37506904	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	4738391	37506904	205692469	69	1494										
DHX57	90957	broad.mit.edu	37	chr2	39088332	39088332	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gggttatcaaagaatatacgAcaggttccgaagtttccgca	10	8	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:39088332A>T	ENST00000295373.6	-	5	1346	c.1220T>A	c.(1219-1221)gTc>gAc	p.V407D	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	407							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)				AGAATATACGACAGGTTCCGA	0.403																																					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.(1219-1221)gTc>gAc		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							96	98	98					2																	39088332		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39088332A>T	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1220T>A	2.37:g.39088332A>T	ENSP00000295373:p.Val407Asp		Somatic				DHX57_ENST00000479345.2_5'UTR	p.V407D	NM_198963.1	NP_945314.1	WXS	Illumina GAIIx	Phase_I	Q6P158	DHX57_HUMAN			5	1346	-		all_hematologic(82;0.248)	407					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.1220T>A	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238492	0.58886	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.29655	1.56	5.67	4.52	0.55395	Ubiquitin-conjugating enzyme/RWD-like (1);RWD domain (1);	0.000000	0.47852	D	0.000208	T	0.43765	0.1262	L	0.48642	1.525	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.71414	0.95;0.973	T	0.23476	-1.0187	10	0.44086	T	0.13	.	8.8205	0.35023	0.8565:0.0:0.1435:0.0	.	407;407	Q6P158-2;Q6P158	.;DHX57_HUMAN	D	407;305	ENSP00000295373:V407D	ENSP00000295373:V407D	V	-	2	0	DHX57	38941836	0.997000	0.39634	0.992000	0.48379	0.689000	0.40095	3.601000	0.54059	0.989000	0.38761	0.533000	0.62120	GTC		0.403	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		53	69	0	0	0	1	0	53	69					T	39088332	A	T	39088332	3	4	21	1	0	0	0	0	1	0	0	0	4515	275	10	4	3020	4	DHX57	2	39088332	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	1581428	39088332	204111041	70	1495										
ZFP36L2	678	broad.mit.edu	37	chr2	43451501	43451501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggctgaagattggcaggcggCggccagggtcgaggctggga	21	8	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:43451501C>T	ENST00000282388.3	-	2	1735	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	481					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGGCAGGCGGCGGCCAGGGTC	0.667																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(1441-1443)cGc>cAc		ZFP36 ring finger protein-like 2							7	8	8					2																	43451501		2167	4258	6425	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43451501C>T	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.1442G>A	2.37:g.43451501C>T	ENSP00000282388:p.Arg481His		Somatic				THADA_ENST00000330266.7_Intron	p.R481H	NM_006887.4	NP_008818.3	WXS	Illumina GAIIx	Phase_I	P47974	TISD_HUMAN			2	1735	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	481					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.1442G>A	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177586	0.38413	.	.	ENSG00000152518	ENST00000282388	T	0.37584	1.19	3.99	3.11	0.35812	.	0.473335	0.15599	N	0.253994	T	0.29524	0.0736	L	0.35854	1.095	0.80722	D	1	B	0.18610	0.029	B	0.10450	0.005	T	0.08659	-1.0711	10	0.87932	D	0	-17.46	11.1835	0.48642	0.0:0.9071:0.0:0.0929	.	481	P47974	TISD_HUMAN	H	481	ENSP00000282388:R481H	ENSP00000282388:R481H	R	-	2	0	ZFP36L2	43305005	0.884000	0.30299	0.961000	0.40146	0.714000	0.41099	5.720000	0.68470	0.644000	0.30656	-0.266000	0.10368	CGC		0.667	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		7	9	0	0	0	1	0	7	9					T	43451501	C	T	43451501	3	4	21	1	0	0	0	0	1	0	0	0	17662	768	27	1	46	1	ZFP36L2	2	43451501	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	4363169	43451501	199747872	71	1496										
ZFP36L2	678	broad.mit.edu	37	chr2	43452260	43452260	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cacgcaggtccccggaggcgCcccccgacggcgcgggccgc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:43452260delC	ENST00000282388.3	-	2	976	c.683delG	c.(682-684)ggcfs	p.G228fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	228					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CCCGGAggcgccccccgacgg	0.706																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(682-684)gcfs		ZFP36 ring finger protein-like 2							7	9	8					2																	43452260		2058	4125	6183	SO:0001589	frameshift_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452260delC	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"RING-type (C3HC4) zinc fingers"	1108	protein-coding gene	gene with protein product		612053	"zinc finger protein 36, C3H type-like 1", "zinc finger protein 36, C3H type-like 2"	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.683delG	2.37:g.43452260delC	ENSP00000282388:p.Gly228fs		Somatic				THADA_ENST00000330266.7_Intron	p.G228fs	NM_006887.4	NP_008818.3	WXS	Illumina GAIIx	Phase_I	P47974	TISD_HUMAN			2	976	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	228					Q53TB4|Q9BSJ3	Frame_Shift_Del	DEL	ENST00000282388.3	37	c.683delG	CCDS1811.1																																																																																				0.706	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		16	31						16	31	---	---	---	---	-	43452260	C	-	43452260	7	5	21	1	0	1	0	1	0	0	0	0	17662	739	26	0	805	0	ZFP36L2	2	43452260	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	759	43452260	199747113	72	1497										
ABCG8	64241	broad.mit.edu	37	chr2	44105047	44105047	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aacagaaaccaagtcaagacTggtgattcacgccagacgtc	9	11	2	4			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:44105047T>C	ENST00000272286.2	+	13	2107	c.2017T>C	c.(2017-2019)Tgg>Cgg	p.W673R		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	673					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)	AAGTCAAGACTGGTGATTCAC	0.562											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(2017-2019)Tgg>Cgg		ATP-binding cassette, sub-family G (WHITE), member 8							120	99	106					2																	44105047		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.chr2:44105047T>C	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.2017T>C	2.37:g.44105047T>C	ENSP00000272286:p.Trp673Arg		Somatic	OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921		p.W673R	NM_022437.2	NP_071882.1	WXS	Illumina GAIIx	Phase_I	Q9H221	ABCG8_HUMAN			13	2107	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	673					Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.2017T>C	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390927	0.82902	.	.	ENSG00000143921	ENST00000272286	D	0.88896	-2.44	5.48	5.48	0.80851	.	0.061911	0.64402	D	0.000001	D	0.92916	0.7746	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93681	0.6998	10	0.87932	D	0	.	15.5924	0.76543	0.0:0.0:0.0:1.0	.	672;673	Q9H221-2;Q9H221	.;ABCG8_HUMAN	R	673	ENSP00000272286:W673R	ENSP00000272286:W673R	W	+	1	0	ABCG8	43958551	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.634000	0.83273	2.084000	0.62774	0.533000	0.62120	TGG		0.562	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		22	32	0	0	0	1	0	22	32					C	44105047	T	C	44105047	3	2	21	1	0	0	0	0	1	0	0	0	72	1580	55	4	2067	4	ABCG8	2	44105047	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	652787	44105047	199094326	73	1498										
MSH2	4436	broad.mit.edu	37	chr2	47707956	47707956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tttcagtatattggagaatcGcaaggatatgatatcatgga	10	4	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:47707956G>A	ENST00000233146.2	+	15	2803	c.2580G>A	c.(2578-2580)tcG>tcA	p.S860S	MSH2_ENST00000461394.1_3'UTR|MSH2_ENST00000543555.1_Silent_p.S794S|MSH2_ENST00000406134.1_Silent_p.S860S	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	860			S -> L (associated with HNPCC1; unknown pathological significance; repair proficient).		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)			TTGGAGAATCGCAAGGATATG	0.383			"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.(2578-2580)tcG>tcA	Mismatch excision repair (MMR)	mutS homolog 2							130	124	126					2																	47707956		2203	4300	6503	SO:0001819	synonymous_variant	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47707956G>A	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.2580G>A	2.37:g.47707956G>A			Somatic				MSH2_ENST00000543555.1_Silent_p.S794S|MSH2_ENST00000461394.1_3'UTR|MSH2_ENST00000233146.2_Silent_p.S860S	p.S860S			WXS	Illumina GAIIx	Phase_I	P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		15	2642	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	860					B4E2Z2|O75488	Silent	SNP	ENST00000233146.2	37	c.2580G>A	CCDS1834.1																																																																																				0.383	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			56	64	0	0	0	1	0	56	64					A	47707956	G	A	47707956	2	1	21	1	0	0	0	0	0	0	0	1	9879	1074	38	1		1	MSH2	2	47707956	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3602909	47707956	195491417	74	1499										
ANTXR1	84168	broad.mit.edu	37	chr2	69472531	69472531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cccctcccatcccgtccccaCcttccacccttccccctcct	1	28	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:69472531C>T	ENST00000303714.4	+	18	1931	c.1609C>T	c.(1609-1611)Cct>Tct	p.P537S		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	537	Pro-rich.				actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						cccgtccccaccttccaccct	0.706									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1609-1611)Cct>Tct		anthrax toxin receptor 1							11	13	12					2																	69472531		2139	4222	6361	SO:0001583	missense	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69472531C>T	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"anthrax toxin receptor", "tumor endothelial marker 8 precursor"	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1609C>T	2.37:g.69472531C>T	ENSP00000301945:p.Pro537Ser		Somatic					p.P537S	NM_032208.2	NP_115584.1	WXS	Illumina GAIIx	Phase_I	Q9H6X2	ANTR1_HUMAN			18	1931	+			537			Pro-rich.		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	c.1609C>T	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675212	0.29783	.	.	ENSG00000169604	ENST00000303714	T	0.33654	1.4	4.33	4.33	0.51752	.	0.224250	0.38272	N	0.001754	T	0.21801	0.0525	L	0.31926	0.97	0.80722	D	1	B	0.33883	0.43	B	0.21708	0.036	T	0.05599	-1.0875	10	0.21014	T	0.42	-3.856	10.0609	0.42275	0.2013:0.7987:0.0:0.0	.	537	Q9H6X2	ANTR1_HUMAN	S	537	ENSP00000301945:P537S	ENSP00000301945:P537S	P	+	1	0	ANTXR1	69326035	0.955000	0.32602	0.995000	0.50966	0.916000	0.54674	1.204000	0.32296	2.143000	0.66587	0.478000	0.44815	CCT		0.706	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		3	6	0	0	0	1	0	3	6					T	69472531	C	T	69472531	3	4	21	1	0	0	0	0	1	0	0	0	711	507	18	3	1756	3	ANTXR1	2	69472531	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	21764575	69472531	173726842	75	1500										
GFPT1	2673	broad.mit.edu	37	chr2	69554051	69554051	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggtagatgacttacatcatAgcctctcagcacagcaaggt	9	10	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:69554051A>G	ENST00000357308.4	-	19	2228	c.2050T>C	c.(2050-2052)Tat>Cat	p.Y684H	GFPT1_ENST00000361060.5_Missense_Mutation_p.Y666H	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	684	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						CTTACATCATAGCCTCTCAGC	0.433																																						ENST00000357308.4																			0				endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						c.(2050-2052)Tat>Cat		glutamine--fructose-6-phosphate transaminase 1							119	110	113					2																	69554051		2203	4300	6503	SO:0001583	missense	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.chr2:69554051A>G		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.2050T>C	2.37:g.69554051A>G	ENSP00000349860:p.Tyr684His		Somatic				GFPT1_ENST00000361060.4_Missense_Mutation_p.Y666H	p.Y684H	NM_001244710.1	NP_001231639.1	WXS	Illumina GAIIx	Phase_I	Q06210	GFPT1_HUMAN			19	2228	-			684			SIS 2.		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	c.2050T>C	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.909209	0.33721	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.71341	-0.56;-0.56	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.70894	0.3276	L	0.28504	0.86	0.80722	D	1	P	0.47106	0.89	P	0.57425	0.82	T	0.66143	-0.5997	10	0.18710	T	0.47	-15.8469	14.322	0.66491	1.0:0.0:0.0:0.0	.	666	Q06210-2	.	H	684;666	ENSP00000349860:Y684H;ENSP00000354347:Y666H	ENSP00000349860:Y684H	Y	-	1	0	GFPT1	69407555	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.983000	0.93477	2.160000	0.67779	0.460000	0.39030	TAT		0.433	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				25	22	0	0	0	1	0	25	22					G	69554051	A	G	69554051	3	3	21	1	0	0	0	0	1	0	0	0	6353	420	15	4	57	4	GFPT1	2	69554051	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	81520	69554051	173645322	76	1501										
ANXA4	307	broad.mit.edu	37	chr2	70035051	70035051	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgtttagggagccggcactgAtgagggctgcctaattgaga	15	7	0	3	rs139920396		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:70035051A>G	ENST00000394295.4	+	6	568	c.320A>G	c.(319-321)gAt>gGt	p.D107G	ANXA4_ENST00000409920.1_Missense_Mutation_p.D85G|ANXA4_ENST00000536030.1_Missense_Mutation_p.D23G	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	105					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						GCCGGCACTGATGAGGGCTGC	0.552																																						ENST00000394295.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(319-321)gAt>gGt		annexin A4		A	GLY/ASP	0,4406		0,0,2203	62	55	57		320	5.9	0.9	2	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANXA4	NM_001153.3	94	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	107/322	70035051	1,13005	2203	4300	6503	SO:0001583	missense	307				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr2:70035051A>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.320A>G	2.37:g.70035051A>G	ENSP00000377833:p.Asp107Gly		Somatic				ANXA4_ENST00000536030.1_Missense_Mutation_p.D23G|ANXA4_ENST00000409920.1_Missense_Mutation_p.D85G	p.D107G	NM_001153.3	NP_001144.1	WXS	Illumina GAIIx	Phase_I	P09525	ANXA4_HUMAN			6	568	+			105					B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	ENST00000394295.4	37	c.320A>G	CCDS1894.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568091	0.86439	0.0	1.16E-4	ENSG00000196975	ENST00000409920;ENST00000394295;ENST00000536030	T;T;T	0.05447	3.44;3.44;3.44	5.86	5.86	0.93980	Annexin repeat, conserved site (1);	0.046680	0.85682	D	0.000000	T	0.37625	0.1010	H	0.95884	3.735	0.54753	D	0.999988	D;D;D	0.89917	0.99;1.0;0.996	D;D;D	0.75484	0.958;0.986;0.973	T	0.54649	-0.8262	9	.	.	.	.	14.2165	0.65797	1.0:0.0:0.0:0.0	.	105;85;107	P09525;Q6P452;Q6LES2	ANXA4_HUMAN;.;.	G	85;107;23	ENSP00000386756:D85G;ENSP00000377833:D107G;ENSP00000441931:D23G	.	D	+	2	0	ANXA4	69888555	1.000000	0.71417	0.910000	0.35882	0.944000	0.59088	6.885000	0.75606	2.244000	0.73946	0.528000	0.53228	GAT		0.552	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2	NM_001153		28	41	0	0	0	1	0	28	41					G	70035051	A	G	70035051	3	3	21	1	0	0	0	0	1	0	0	0	720	333	12	4	338	4	ANXA4	2	70035051	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	481000	70035051	173164322	77	1502										
ASPRV1	151516	broad.mit.edu	37	chr2	70188284	70188284	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atctctttgggcaggtggctGggggcagccccagggacccc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:70188284delG	ENST00000320256.4	-	1	1113	c.537delC	c.(535-537)cccfs	p.P179fs	PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1									p.P179P(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GCAGGTGGCTGGGGGCAGCCC	0.587																																						ENST00000320256.4																			1	Substitution - coding silent(1)	p.P179P(1)	lung(1)	endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(535-537)ccfs		aspartic peptidase, retroviral-like 1							45	50	48					2																	70188284		2203	4300	6503	SO:0001589	frameshift_variant	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70188284delG	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"Skin ASpartic Protease"	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.537delC	2.37:g.70188284delG	ENSP00000315383:p.Pro179fs		Somatic					p.P179fs	NM_152792.2	NP_690005.2	WXS	Illumina GAIIx	Phase_I	Q53RT3	APRV1_HUMAN			1	1113	-			179						Frame_Shift_Del	DEL	ENST00000320256.4	37	c.537delC	CCDS1897.1																																																																																				0.587	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		51	48						51	48	---	---	---	---	-	70188284	G	-	70188284	7	5	21	1	0	1	0	1	0	0	0	0	1058	1335	47	0	498	0	ASPRV1	2	70188284	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	153233	70188284	173011089	78	1503										
C2orf42	54980	broad.mit.edu	37	chr2	70392681	70392682	+	Frame_Shift_Ins	INS	-	-	T													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtggtggagttggggagccgINStttttttgcacttcctatag							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:70392681_70392682insT	ENST00000264434.2	-	7	1609_1610	c.1230_1231insA	c.(1228-1233)aaacggfs	p.R411fs	C2orf42_ENST00000420306.1_Frame_Shift_Ins_p.R411fs	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	411										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TTGGGGAGCCGTTTTTTTGCAC	0.406																																						ENST00000264434.2																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(1228-1233)aaggctfs		chromosome 2 open reading frame 42																																				SO:0001589	frameshift_variant	54980							g.chr2:70392681_70392682insT	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.1231dupA	2.37:g.70392688_70392688dupT	ENSP00000264434:p.Arg411fs		Somatic				C2orf42_ENST00000420306.1_Frame_Shift_Ins_p.A411fs	p.A411fs	NM_017880.1	NP_060350.1	WXS	Illumina GAIIx	Phase_I	Q9NWW7	CB042_HUMAN			7	1609_1610	-			411					D6W5G3|Q9H629	Frame_Shift_Ins	INS	ENST00000264434.2	37	c.1230_1231insA	CCDS1899.1																																																																																				0.406	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		29	57						29	57	---	---	---	---	T	70392682	-	T	70392681	7	5	21	1	0	1	1	0	0	0	0	0	2168	1144	40	0	509	0	C2orf42	2	70392681	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	204397	70392681	172806692	79	1504										
C2orf7	84279	broad.mit.edu	37	chr2	73455661	73455661	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctgggatggaaatgatggccCatggcagcccatgctgttcc	13	11	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:73455661C>A	ENST00000258083.2	-	5	555	c.488G>T	c.(487-489)tGg>tTg	p.W163L	PRADC1_ENST00000480093.1_5'UTR	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	163	PA.					extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(1)|lung(2)	4						AATGATGGCCCATGGCAGCCC	0.562																																						ENST00000258083.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(487-489)tGg>tTg		protease-associated domain containing 1							83	70	75					2																	73455661		2203	4300	6503	SO:0001583	missense	84279					extracellular region		g.chr2:73455661C>A	BC005069	CCDS1924.1	2p13.2	2012-10-31	2011-04-15	2011-04-15	ENSG00000135617	ENSG00000135617			16047	protein-coding gene	gene with protein product	"protease-associated domain-containing glycoprotein 21 kDa"		"chromosome 2 open reading frame 7"	C2orf7		15498570	Standard	NM_032319		Approved	MGC13004, PAP21, hPAP21	uc002siy.3	Q9BSG0	OTTHUMG00000129773	ENST00000258083.2:c.488G>T	2.37:g.73455661C>A	ENSP00000258083:p.Trp163Leu		Somatic				PRADC1_ENST00000480093.1_5'UTR	p.W163L	NM_032319.1	NP_115695.1	WXS	Illumina GAIIx	Phase_I	Q9BSG0	PADC1_HUMAN			5	555	-			163			PA.		Q2Z1P2	Missense_Mutation	SNP	ENST00000258083.2	37	c.488G>T	CCDS1924.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560140	0.27827	.	.	ENSG00000135617	ENST00000258083	T	0.40476	1.03	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	N	0.22421	0.69	0.54753	D	0.999985	P	0.43477	0.808	B	0.41332	0.354	T	0.04029	-1.0983	10	0.11794	T	0.64	-2.9182	16.7728	0.85543	0.0:1.0:0.0:0.0	.	163	Q9BSG0	PADC1_HUMAN	L	163	ENSP00000258083:W163L	ENSP00000258083:W163L	W	-	2	0	PRADC1	73309169	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.766000	0.55280	2.620000	0.88729	0.655000	0.94253	TGG		0.562	PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251989.1	NM_032319		20	30	1	0	1.28384e-07	1	1.3388e-07	20	30					A	73455661	C	A	73455661	3	1	21	1	0	0	0	0	1	0	0	0	2191	595	21	5	82	5	C2orf7	2	73455661	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3062980	73455661	169743712	80	1505										
FBXO41	150726	broad.mit.edu	37	chr2	73490910	73490910	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atgcgcaggatcagcaggttCcccccagctgccttcagcag							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:73490910delC	ENST00000521871.1	-	8	2386	c.1971delG	c.(1969-1971)gggfs	p.G657fs	FBXO41_ENST00000295133.5_Frame_Shift_Del_p.G718fs|FBXO41_ENST00000520530.2_Frame_Shift_Del_p.G657fs			Q8TF61	FBX41_HUMAN	F-box protein 41	657										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						TCAGCAGGTTCCCCCCAGCTG	0.637																																						ENST00000521871.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						c.(1969-1971)ggfs		F-box protein 41							73	89	84					2																	73490910		2096	4224	6320	SO:0001589	frameshift_variant	150726					intracellular	protein binding|zinc ion binding	g.chr2:73490910delC	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"F-boxes /  "other""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1971delG	2.37:g.73490910delC	ENSP00000428646:p.Gly657fs		Somatic				FBXO41_ENST00000295133.5_Frame_Shift_Del_p.G718fs|FBXO41_ENST00000520530.2_Frame_Shift_Del_p.G657fs	p.G657fs			WXS	Illumina GAIIx	Phase_I	Q8TF61	FBX41_HUMAN			8	2386	-			657					G3V0Z7|Q2M1V8	Frame_Shift_Del	DEL	ENST00000521871.1	37	c.1971delG	CCDS46337.2																																																																																				0.637	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377381.1			13	102						13	102	---	---	---	---	-	73490910	C	-	73490910	7	5	21	1	0	1	0	1	0	0	0	0	5758	842	30	0	680	0	FBXO41	2	73490910	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	35249	73490910	169708463	81	1506										
HK2	3099	broad.mit.edu	37	chr2	75113749	75113749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atgcctagatgacttccgcaCagaatttgatgtggctgtgg	12	8	0	4			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:75113749C>T	ENST00000290573.2	+	15	2768	c.2168C>T	c.(2167-2169)aCa>aTa	p.T723I	HK2_ENST00000409174.1_Missense_Mutation_p.T695I	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	723	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GACTTCCGCACAGAATTTGAT	0.562																																						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.(2167-2169)aCa>aTa		hexokinase 2							103	107	106					2																	75113749		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75113749C>T		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2168C>T	2.37:g.75113749C>T	ENSP00000290573:p.Thr723Ile		Somatic				HK2_ENST00000409174.1_Missense_Mutation_p.T695I	p.T723I	NM_000189.4	NP_000180.2	WXS	Illumina GAIIx	Phase_I	P52789	HXK2_HUMAN			15	2768	+			723			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.2168C>T	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458139	0.84317	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.99136	-5.47;-5.47	5.49	5.49	0.81192	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99518	0.9828	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98294	1.0515	10	0.87932	D	0	-17.8065	16.9239	0.86170	0.0:1.0:0.0:0.0	.	723	P52789	HXK2_HUMAN	I	723;723;695	ENSP00000290573:T723I;ENSP00000387140:T695I	ENSP00000290573:T723I	T	+	2	0	HK2	74967257	1.000000	0.71417	0.970000	0.41538	0.720000	0.41350	7.598000	0.82745	2.865000	0.98341	0.655000	0.94253	ACA		0.562	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		54	80	0	0	0	1	0	54	80					T	75113749	C	T	75113749	3	4	21	1	0	0	0	0	1	0	0	0	7200	478	17	3	2226	3	HK2	2	75113749	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1622839	75113749	168085624	82	1507										
SUCLG1	8802	broad.mit.edu	37	chr2	84670463	84670463	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtgtctggcctcctttccctGgagtggttcctccaacgagt	11	13	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:84670463G>A	ENST00000393868.2	-	3	473	c.263C>T	c.(262-264)cCa>cTa	p.P88L		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	88					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)	TCCTTTCCCTGGAGTGGTTCC	0.488																																					Ovarian(48;203 1101 37206 40305 50790)	ENST00000393868.2																			0				kidney(4)|large_intestine(4)|lung(2)	10						c.(262-264)cCa>cTa		succinate-CoA ligase, alpha subunit	Succinic acid(DB00139)						117	108	111					2																	84670463		2203	4300	6503	SO:0001583	missense	8802				tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr2:84670463G>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.263C>T	2.37:g.84670463G>A	ENSP00000377446:p.Pro88Leu		Somatic					p.P88L	NM_003849.3	NP_003840.2	WXS	Illumina GAIIx	Phase_I	P53597	SUCA_HUMAN			3	473	-			88					Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	c.263C>T	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	G	33	5.264099	0.95399	.	.	ENSG00000163541	ENST00000393868	D	0.90788	-2.73	5.9	5.9	0.94986	CoA-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97275	0.9109	H	0.97214	3.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.988	D	0.98216	1.0475	10	0.87932	D	0	-0.4193	17.7706	0.88491	0.0:0.0:1.0:0.0	.	88;88	B7Z438;P53597	.;SUCA_HUMAN	L	88	ENSP00000377446:P88L	ENSP00000377446:P88L	P	-	2	0	SUCLG1	84523974	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.869000	0.99810	2.808000	0.96608	0.650000	0.86243	CCA		0.488	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		5	96	0	0	0	1	0	5	96					A	84670463	G	A	84670463	3	1	21	1	0	0	0	0	1	0	0	0	15379	1348	47	3	805	3	SUCLG1	2	84670463	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	9556714	84670463	158528910	83	1508										
C2orf55	343990	broad.mit.edu	37	chr2	99439573	99439573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gagcacagaccacctcctccGccttgtccgtggccggggca	12	17	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:99439573G>A	ENST00000397899.2	-	7	1494	c.1163C>T	c.(1162-1164)gCg>gTg	p.A388V		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	388	Pro-rich.																CACCTCCTCCGCCTTGTCCGT	0.751																																						ENST00000397899.2																			0											c.(1162-1164)gCg>gTg		KIAA1211-like							8	10	9					2																	99439573		1844	4011	5855	SO:0001583	missense	343990							g.chr2:99439573G>A	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 55"	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.1163C>T	2.37:g.99439573G>A	ENSP00000380996:p.Ala388Val		Somatic					p.A388V	NM_207362.2	NP_997245.2	WXS	Illumina GAIIx	Phase_I					7	1494	-									Missense_Mutation	SNP	ENST00000397899.2	37	c.1163C>T	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962816	0.34659	.	.	ENSG00000196872	ENST00000397899	T	0.49139	0.79	5.23	2.11	0.27256	.	0.460606	0.18521	N	0.138775	T	0.34395	0.0896	L	0.53249	1.67	0.09310	N	1	B	0.31318	0.319	B	0.23852	0.049	T	0.16719	-1.0393	10	0.35671	T	0.21	-0.7101	4.495	0.11833	0.0942:0.1631:0.5955:0.1472	.	388	Q6NV74	CB055_HUMAN	V	388	ENSP00000380996:A388V	ENSP00000380996:A388V	A	-	2	0	C2orf55	98806005	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-0.508000	0.06344	0.553000	0.29044	0.555000	0.69702	GCG		0.751	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		15	14	0	0	0	1	0	15	14					A	99439573	G	A	99439573	3	1	21	1	0	0	0	0	1	0	0	0	2178	1087	38	1	1741	1	C2orf55	2	99439573	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	14769110	99439573	143759800	84	1509										
C2orf29	55571	broad.mit.edu	37	chr2	101883155	101883155	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttagctacttggtgagttggAaaaagaccccaaacttgtct	9	8	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:101883155A>G	ENST00000289382.3	+	5	1215	c.1052A>G	c.(1051-1053)gAa>gGa	p.E351G		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	351					cell proliferation (GO:0008283)|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)|nucleus (GO:0005634)											GGTGAGTTGGAAAAAGACCCC	0.398																																						ENST00000289382.3																			0											c.(1051-1053)gAa>gGa		CCR4-NOT transcription complex, subunit 11							116	117	116					2																	101883155		2203	4300	6503	SO:0001583	missense	55571							g.chr2:101883155A>G	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 29"	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.1052A>G	2.37:g.101883155A>G	ENSP00000289382:p.Glu351Gly		Somatic					p.E351G	NM_017546.4	NP_060016.3	WXS	Illumina GAIIx	Phase_I					5	1215	+								Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	c.1052A>G	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.757305	0.89843	.	.	ENSG00000158435	ENST00000289382	.	.	.	5.95	5.95	0.96441	.	0.048600	0.85682	D	0.000000	T	0.62720	0.2451	M	0.74647	2.275	0.80722	D	1	P	0.49961	0.93	P	0.44422	0.449	T	0.64765	-0.6330	9	0.35671	T	0.21	-23.6082	16.4237	0.83790	1.0:0.0:0.0:0.0	.	351	Q9UKZ1	CB029_HUMAN	G	351	.	ENSP00000289382:E351G	E	+	2	0	C2orf29	101249587	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.210000	0.95106	2.279000	0.76181	0.533000	0.62120	GAA		0.398	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		65	80	0	0	0	1	0	65	80					G	101883155	A	G	101883155	3	3	21	1	0	0	0	0	1	0	0	0	2163	246	9	4	1070	4	C2orf29	2	101883155	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	2443582	101883155	141316218	85	1510										
TGFBRAP1	9392	broad.mit.edu	37	chr2	105924173	105924173	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aaacaggtcctgggagacgcCtgtgctgtaattgtggatga	14	7	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:105924173C>A	ENST00000393359.2	-	2	1012	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G196C			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	196	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						TGGGAGACGCCTGTGCTGTAA	0.622																																					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.(586-588)Ggc>Tgc		transforming growth factor, beta receptor associated protein 1							102	107	105					2																	105924173		2203	4300	6503	SO:0001583	missense	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.chr2:105924173C>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.586G>T	2.37:g.105924173C>A	ENSP00000377027:p.Gly196Cys		Somatic				TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G196C	p.G196C			WXS	Illumina GAIIx	Phase_I	Q8WUH2	TGFA1_HUMAN			2	1012	-			196			CNH.		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.586G>T	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043754	0.75732	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.06068	3.35;3.35	5.32	4.44	0.53790	Citron-like (2);	0.053448	0.85682	D	0.000000	T	0.23410	0.0566	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.00998	-1.1486	10	0.72032	D	0.01	-37.4053	14.1971	0.65679	0.0:0.9285:0.0:0.0715	.	196	Q8WUH2	TGFA1_HUMAN	C	196	ENSP00000377027:G196C;ENSP00000258449:G196C	ENSP00000258449:G196C	G	-	1	0	TGFBRAP1	105290605	1.000000	0.71417	0.721000	0.30653	0.916000	0.54674	7.320000	0.79064	1.475000	0.48197	0.655000	0.94253	GGC		0.622	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		94	126	1	0	1.63847e-34	1	1.83751e-34	94	126					A	105924173	C	A	105924173	3	1	21	1	0	0	0	0	1	0	0	0	15839	681	24	5	2040	5	TGFBRAP1	2	105924173	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	4041018	105924173	137275200	86	1511										
MERTK	10461	broad.mit.edu	37	chr2	112786408	112786408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gatgaacttttgtttgctgaCgactcctcagaaggctcaga	10	9	2	4	rs140956730		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:112786408C>T	ENST00000295408.4	+	19	3224	c.2967C>T	c.(2965-2967)gaC>gaT	p.D989D	MERTK_ENST00000409780.1_Silent_p.D813D|MERTK_ENST00000421804.2_Silent_p.D989D			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	989					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGTTTGCTGACGACTCCTCAG	0.502																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2965-2967)gaC>gaT		c-mer proto-oncogene tyrosine kinase		C		1,4405	2.1+/-5.4	0,1,2202	50	51	51		2967	-9.1	0	2	dbSNP_134	51	0,8600		0,0,4300	no	coding-synonymous	MERTK	NM_006343.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		989/1000	112786408	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112786408C>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2967C>T	2.37:g.112786408C>T			Somatic				MERTK_ENST00000409780.1_Silent_p.D813D|MERTK_ENST00000421804.2_Silent_p.D989D	p.D989D			WXS	Illumina GAIIx	Phase_I	Q12866	MERTK_HUMAN			19	3224	+			989					Q9HBB4	Silent	SNP	ENST00000295408.4	37	c.2967C>T	CCDS2094.1																																																																																				0.502	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			25	29	0	0	0	1	0	25	29					T	112786408	C	T	112786408	2	4	21	1	0	0	0	0	0	0	0	1	9488	535	19	1		1	MERTK	2	112786408	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	6862235	112786408	130412965	87	1512										
ZC3H6	376940	broad.mit.edu	37	chr2	113067600	113067600	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtgatgacaactttggtaacTacggtcaggaaacagaggaa	12	6	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:113067600T>C	ENST00000409871.1	+	4	876	c.475T>C	c.(475-477)Tac>Cac	p.Y159H	ZC3H6_ENST00000343936.4_Missense_Mutation_p.Y159H	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	159							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CTTTGGTAACTACGGTCAGGA	0.363																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(475-477)Tac>Cac		zinc finger CCCH-type containing 6							74	70	71					2																	113067600		1877	4116	5993	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113067600T>C	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.475T>C	2.37:g.113067600T>C	ENSP00000386764:p.Tyr159His		Somatic				ZC3H6_ENST00000343936.4_Missense_Mutation_p.Y159H	p.Y159H	NM_198581.2	NP_940983.2	WXS	Illumina GAIIx	Phase_I	P61129	ZC3H6_HUMAN			4	876	+			159					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.475T>C	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.256398	0.39896	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.14640	2.49;2.49	3.09	3.09	0.35607	.	0.348797	0.23589	N	0.046563	T	0.28732	0.0712	M	0.72894	2.215	0.28395	N	0.918919	D	0.64830	0.994	D	0.76071	0.987	T	0.05649	-1.0872	10	0.18710	T	0.47	-11.0665	7.9401	0.29952	0.0:0.0:0.0:1.0	.	159	P61129	ZC3H6_HUMAN	H	159;159;136	ENSP00000386764:Y159H;ENSP00000340298:Y159H	ENSP00000340298:Y159H	Y	+	1	0	ZC3H6	112784071	1.000000	0.71417	0.985000	0.45067	0.831000	0.47069	3.959000	0.56744	1.671000	0.50874	0.459000	0.35465	TAC		0.363	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		10	19	0	0	0	1	0	10	19					C	113067600	T	C	113067600	3	2	21	1	0	0	0	0	1	0	0	0	17586	1522	53	4	489	4	ZC3H6	2	113067600	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	281192	113067600	130131773	88	1513										
PCDP1	200373	broad.mit.edu	37	chr2	120388230	120388230	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acagacctcaaaagcttgccCgagccctaaagcaaggagct	9	13	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:120388230C>T	ENST00000413369.3	+	18	1903	c.1816C>T	c.(1816-1818)Cga>Tga	p.R606*	PCDP1_ENST00000602047.1_Nonsense_Mutation_p.R320*	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					AAAGCTTGCCCGAGCCCTAAA	0.448																																						ENST00000602047.1																			0											c.(958-960)Cga>Tga									79	79	79					2																	120388230		2203	4300	6503	SO:0001587	stop_gained	0					cilium	calmodulin binding	g.chr2:120388230C>T																												ENST00000413369.3:c.1816C>T	2.37:g.120388230C>T	ENSP00000393222:p.Arg606*		Somatic				PCDP1_ENST00000413369.3_Nonsense_Mutation_p.R606*	p.R320*			WXS	Illumina GAIIx	Phase_I	Q4G0U5	PCDP1_HUMAN			19	2070	+	Colorectal(110;0.196)		606						Nonsense_Mutation	SNP	ENST00000413369.3	37	c.958C>T	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	37	6.440141	0.97568	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	.	.	.	4.85	3.98	0.46160	.	0.098086	0.43416	D	0.000561	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1539	9.0329	0.36269	0.0:0.8994:0.0:0.1006	.	.	.	.	X	320;606	.	ENSP00000295220:R320X	R	+	1	2	AC069154.2	120104700	0.923000	0.31300	0.890000	0.34922	0.914000	0.54420	1.841000	0.39240	1.256000	0.44068	0.563000	0.77884	CGA		0.448	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			27	31	0	0	0	1	0	27	31					T	120388230	C	T	120388230	4	4	21	1	0	0	0	0	0	1	0	0	11581	644	23	1	996	1	PCDP1	2	120388230	Nonsense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	7320630	120388230	122811143	89	1514										
TMEM177	80775	broad.mit.edu	37	chr2	120438732	120438732	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttcccaagactccctgctggGgctgtggtgggcatccctgc	13	14	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:120438732G>T	ENST00000424086.1	+	2	776	c.303G>T	c.(301-303)ggG>ggT	p.G101G	TMEM177_ENST00000401466.1_Silent_p.G101G|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Silent_p.G101G|TMEM177_ENST00000496203.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	101						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)					TCCCTGCTGGGGCTGTGGTGG	0.562																																						ENST00000424086.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(301-303)ggG>ggT		transmembrane protein 177							168	179	176					2																	120438732		2203	4300	6503	SO:0001819	synonymous_variant	80775					integral to membrane		g.chr2:120438732G>T	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.303G>T	2.37:g.120438732G>T			Somatic				TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000272521.6_Silent_p.G101G|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Silent_p.G101G	p.G101G	NM_001105198.1	NP_001098668.1	WXS	Illumina GAIIx	Phase_I	Q53S58	TM177_HUMAN			2	776	+	Colorectal(110;0.196)		101					Q9BT20	Silent	SNP	ENST00000424086.1	37	c.303G>T	CCDS2128.1																																																																																				0.562	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		145	225	1	0	6.07058e-49	1	6.87843e-49	145	225					T	120438732	G	T	120438732	2	4	21	1	0	0	0	0	0	0	0	1	16109	1219	43	5		5	TMEM177	2	120438732	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	50502	120438732	122760641	90	1515										
WDR33	55339	broad.mit.edu	37	chr2	128471558	128471558	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcatgccgcctctctgacatCgggcccatgtgatggtttgg	12	12	2	2	rs151283651		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:128471558C>T	ENST00000322313.4	-	18	3065	c.2907G>A	c.(2905-2907)ccG>ccA	p.P969P		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	969					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)		TCTCTGACATCGGGCCCATGT	0.612																																						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.(2905-2907)ccG>ccA		WD repeat domain 33		C		1,4397		0,1,2198	22	27	25		2907	-9.8	0.4	2	dbSNP_134	25	0,8590		0,0,4295	no	coding-synonymous	WDR33	NM_018383.4		0,1,6493	TT,TC,CC		0.0,0.0227,0.0077		969/1337	128471558	1,12987	2199	4295	6494	SO:0001819	synonymous_variant	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128471558C>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.2907G>A	2.37:g.128471558C>T			Somatic					p.P969P	NM_018383.4	NP_060853.3	WXS	Illumina GAIIx	Phase_I	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	18	3065	-	Colorectal(110;0.1)		969					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	ENST00000322313.4	37	c.2907G>A	CCDS2150.1																																																																																				0.612	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		14	39	0	0	0	1	0	14	39					T	128471558	C	T	128471558	2	4	21	1	0	0	0	0	0	0	0	1	17302	871	31	1		1	WDR33	2	128471558	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	8032826	128471558	114727815	91	1516										
FAM168B	130074	broad.mit.edu	37	chr2	131812977	131812977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caccgtggtgtggtggatgaCgtgaggaggtgctgcataca	17	7	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:131812977C>T	ENST00000409185.1	-	5	450	c.343G>A	c.(343-345)Gtc>Atc	p.V115I	FAM168B_ENST00000389915.3_Missense_Mutation_p.V115I	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	115						cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|lung(2)	5						TGGTGGATGACGTGAGGAGGT	0.612																																						ENST00000409185.1																			0				endometrium(3)|lung(2)	5						c.(343-345)Gtc>Atc		family with sequence similarity 168, member B							150	172	164					2																	131812977		2179	4267	6446	SO:0001583	missense	130074							g.chr2:131812977C>T		CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102			27016	protein-coding gene	gene with protein product							Standard	NM_001009993		Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.343G>A	2.37:g.131812977C>T	ENSP00000387051:p.Val115Ile		Somatic				FAM168B_ENST00000389915.3_Missense_Mutation_p.V115I	p.V115I	NM_001009993.2	NP_001009993.2	WXS	Illumina GAIIx	Phase_I	A1KXE4	F168B_HUMAN			5	450	-			115					Q2TAZ6|Q6NZ40	Missense_Mutation	SNP	ENST00000409185.1	37	c.343G>A	CCDS42755.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152015	0.94645	.	.	ENSG00000152102	ENST00000409185;ENST00000389915	.	.	.	5.44	5.44	0.79542	.	0.113381	0.64402	D	0.000014	T	0.65091	0.2658	L	0.34521	1.04	0.80722	D	1	P	0.51537	0.946	P	0.62184	0.899	T	0.62699	-0.6799	9	0.40728	T	0.16	-9.1776	17.1064	0.86664	0.0:1.0:0.0:0.0	.	115	A1KXE4	F168B_HUMAN	I	115	.	ENSP00000374565:V115I	V	-	1	0	FAM168B	131529447	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.314000	0.78988	2.700000	0.92200	0.655000	0.94253	GTC		0.612	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331299.2	NM_001009993		59	106	0	0	0	1	0	59	106					T	131812977	C	T	131812977	3	4	21	1	0	0	0	0	1	0	0	0	5491	536	19	1	252	1	FAM168B	2	131812977	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3341419	131812977	111386396	92	1517										
TUBA3D	113457	broad.mit.edu	37	chr2	132236920	132236920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctacaggcagctcttccaccCggagcagctgatcaccggga	11	15	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:132236920C>T	ENST00000321253.6	+	3	373	c.266C>T	c.(265-267)cCg>cTg	p.P89L	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	89					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTCTTCCACCCGGAGCAGCTG	0.527																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(265-267)cCg>cTg		tubulin, alpha 3d							132	122	125					2																	132236920		2203	4300	6503	SO:0001583	missense	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132236920C>T	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.266C>T	2.37:g.132236920C>T	ENSP00000326042:p.Pro89Leu		Somatic				TUBA3D_ENST00000409047.2_3'UTR	p.P89L	NM_080386.3	NP_525125.2	WXS	Illumina GAIIx	Phase_I	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	3	373	+			89					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.266C>T	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	c	10.52	1.372306	0.24857	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.73258	-0.73	2.24	2.24	0.28232	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.46442	U	0.000288	D	0.87589	0.6215	H	0.98238	4.18	0.80722	D	1	D	0.65815	0.995	D	0.65684	0.937	D	0.89606	0.3838	10	0.87932	D	0	.	10.1507	0.42791	0.0:1.0:0.0:0.0	.	89	Q13748	TBA3C_HUMAN	L	89	ENSP00000326042:P89L	ENSP00000326042:P89L	P	+	2	0	TUBA3D	131953390	1.000000	0.71417	0.991000	0.47740	0.119000	0.20118	6.499000	0.73683	1.243000	0.43853	0.194000	0.17425	CCG		0.527	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		68	113	0	0	0	1	0	68	113					T	132236920	C	T	132236920	3	4	21	1	0	0	0	0	1	0	0	0	16762	652	23	1	276	1	TUBA3D	2	132236920	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	423943	132236920	110962453	93	1518										
NCKAP5	344148	broad.mit.edu	37	chr2	133541791	133541791	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttgggcggaatgttttggaaTgtgtggatctgatcgtaatt	14	3	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:133541791T>C	ENST00000409261.1	-	14	2966	c.2593A>G	c.(2593-2595)Att>Gtt	p.I865V	NCKAP5_ENST00000317721.6_Missense_Mutation_p.I865V|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	865										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						TGTTTTGGAATGTGTGGATCT	0.537																																						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.(2593-2595)Att>Gtt		NCK-associated protein 5							77	78	78					2																	133541791		1965	4151	6116	SO:0001583	missense	344148						protein binding	g.chr2:133541791T>C	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.2593A>G	2.37:g.133541791T>C	ENSP00000387128:p.Ile865Val		Somatic				NCKAP5_ENST00000317721.6_Missense_Mutation_p.I865V|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	p.I865V	NM_207363.2	NP_997246.2	WXS	Illumina GAIIx	Phase_I	O14513	NCKP5_HUMAN			14	2966	-			865					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.2593A>G	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	t	14.17	2.456762	0.43634	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.11063	2.81;2.81	5.28	1.58	0.23477	.	0.620003	0.13163	N	0.408881	T	0.05410	0.0143	N	0.19112	0.55	0.80722	D	1	B	0.28082	0.2	B	0.25506	0.061	T	0.40739	-0.9547	10	0.15066	T	0.55	.	4.1982	0.10453	0.1419:0.2435:0.0:0.6146	.	865	O14513	NCKP5_HUMAN	V	865	ENSP00000387128:I865V;ENSP00000380603:I865V	ENSP00000380603:I865V	I	-	1	0	NCKAP5	133258261	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	0.773000	0.26661	0.120000	0.18254	-0.270000	0.10280	ATT		0.537	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		42	71	0	0	0	1	0	42	71					C	133541791	T	C	133541791	3	2	21	1	0	0	0	0	1	0	0	0	10232	1464	51	4	3164	4	NCKAP5	2	133541791	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1304871	133541791	109657582	94	1519										
NCKAP5	344148	broad.mit.edu	37	chr2	133543031	133543031	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cccaggtcagctgttttgcaGgggggatactccttgaggct							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:133543031delG	ENST00000409261.1	-	14	1726	c.1353delC	c.(1351-1353)cccfs	p.P451fs	NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.P451fs|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	451								p.C452fs*21(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTGTTTTGCAGGGGGGATACT	0.463																																						ENST00000409261.1																			1	Deletion - Frameshift(1)	p.C452fs*21(1)	large_intestine(1)	NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(1351-1353)ccfs		NCK-associated protein 5							54	52	53					2																	133543031		1854	4097	5951	SO:0001589	frameshift_variant	344148						protein binding	g.chr2:133543031delG	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.1353delC	2.37:g.133543031delG	ENSP00000387128:p.Pro451fs		Somatic				NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.P451fs	p.P451fs	NM_207363.2	NP_997246.2	WXS	Illumina GAIIx	Phase_I	O14513	NCKP5_HUMAN			14	1726	-			451					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Frame_Shift_Del	DEL	ENST00000409261.1	37	c.1353delC	CCDS46418.1																																																																																				0.463	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		24	21						24	21	---	---	---	---	-	133543031	G	-	133543031	7	5	21	1	0	1	0	1	0	0	0	0	10232	987	35	0	4404	0	NCKAP5	2	133543031	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1240	133543031	109656342	95	1520										
MGAT5	4249	broad.mit.edu	37	chr2	135119889	135119889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctggggtttgtggttgagcaGcacctgaactccagtgatat	13	8	0	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:135119889G>A	ENST00000409645.1	+	11	1542	c.1290G>A	c.(1288-1290)caG>caA	p.Q430Q	MGAT5_ENST00000281923.2_Silent_p.Q430Q			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	430					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)		TGGTTGAGCAGCACCTGAACT	0.458																																						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.(1288-1290)caG>caA		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							203	210	208					2																	135119889		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.chr2:135119889G>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.1290G>A	2.37:g.135119889G>A			Somatic				MGAT5_ENST00000281923.2_Silent_p.Q430Q	p.Q430Q			WXS	Illumina GAIIx	Phase_I	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	11	1542	+			430					D3DP70	Silent	SNP	ENST00000409645.1	37	c.1290G>A	CCDS2171.1																																																																																				0.458	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		86	119	0	0	0	1	0	86	119					A	135119889	G	A	135119889	2	1	21	1	0	0	0	0	0	0	0	1	9557	962	34	3		3	MGAT5	2	135119889	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1576858	135119889	108079484	96	1521										
R3HDM1	23518	broad.mit.edu	37	chr2	136409480	136409482	+	In_Frame_Del	DEL	CCT	CCT	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctccaccgccaccaccaccaCctcctcctcctcccctacca					rs139457585		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:136409480_136409482delCCT	ENST00000264160.4	+	17	2171_2173	c.1801_1803delCCT	c.(1801-1803)cctdel	p.P605del	R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del|R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del|R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	605	Poly-Pro.						poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		accaccaccacctcctcctcctc	0.586																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(1801-1803)del		R3H domain containing 1																																				SO:0001651	inframe_deletion	23518						nucleic acid binding	g.chr2:136409480_136409482delCCT	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1801_1803delCCT	2.37:g.136409489_136409491delCCT	ENSP00000264160:p.Pro605del		Somatic				R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del|R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del|R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del	p.P605del	NM_015361.2	NP_056176.2	WXS	Illumina GAIIx	Phase_I	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	17	2171_2173	+			605			Poly-Pro.		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	In_Frame_Del	DEL	ENST00000264160.4	37	c.1801_1803delCCT	CCDS2177.1																																																																																				0.586	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		38	71						38	71	---	---	---	---	-	136409482	CCT	-	136409480	7	5	21	1	0	1	0	1	0	0	0	0	12902	507	18	0	1859	0	R3HDM1	2	136409480	In_Frame_Del	DEL	CCT	TCGA-N7-A4Y0-01A-12D-A28R-08	1289591	136409480	106789893	97	1522										
LCT	3938	broad.mit.edu	37	chr2	136566315	136566315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgttgaggcagaagacgtcgGccgtcgccctgatgaacctc	13	12	0	5			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:136566315G>A	ENST00000264162.2	-	8	3612	c.3602C>T	c.(3601-3603)gCc>gTc	p.A1201V	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1201	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)	GAAGACGTCGGCCGTCGCCCT	0.557																																						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.(3601-3603)gCc>gTc		lactase							192	163	173					2																	136566315		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.chr2:136566315G>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.3602C>T	2.37:g.136566315G>A	ENSP00000264162:p.Ala1201Val		Somatic					p.A1201V	NM_002299.2	NP_002290.2	WXS	Illumina GAIIx	Phase_I	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3612	-			1201			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3602C>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784376	0.49997	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.47869	0.83	5.76	4.85	0.62838	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.045285	0.85682	D	0.000000	T	0.60573	0.2279	L	0.35793	1.09	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.64643	-0.6359	10	0.72032	D	0.01	-23.4811	16.5794	0.84710	0.0:0.1305:0.8695:0.0	.	1201	P09848	LPH_HUMAN	V	1201;633	ENSP00000264162:A1201V	ENSP00000264162:A1201V	A	-	2	0	LCT	136282785	1.000000	0.71417	0.049000	0.19019	0.253000	0.25986	9.869000	0.99810	1.364000	0.46038	0.563000	0.77884	GCC		0.557	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		96	115	0	0	0	1	0	96	115					A	136566315	G	A	136566315	3	1	21	1	0	0	0	0	1	0	0	0	8702	1203	42	3	2221	3	LCT	2	136566315	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	156835	136566315	106633058	98	1523										
LRP1B	53353	broad.mit.edu	37	chr2	141819647	141819648	+	Frame_Shift_Ins	INS	-	-	T													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cttgaatgacagtgtgtctaINSttttttccttgatagtccac							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:141819647_141819648insT	ENST00000389484.3	-	8	2179_2180	c.1208_1209insA	c.(1207-1209)aatfs	p.N403fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	403					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)		CAGTGTGTCTATTTTTTCCTTG	0.391										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.(1207-1209)aagfs		low density lipoprotein receptor-related protein 1B																																				SO:0001589	frameshift_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141819647_141819648insT	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.1209dupA	2.37:g.141819653_141819653dupT	ENSP00000374135:p.Asn403fs	TSP Lung(27;0.18)	Somatic					p.K403fs	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)	8	2179_2180	-		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)	403					Q8WY29|Q8WY30|Q8WY31	Frame_Shift_Ins	INS	ENST00000389484.3	37	c.1208_1209insA	CCDS2182.1																																																																																				0.391	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		35	78						35	78	---	---	---	---	T	141819648	-	T	141819647	7	5	21	1	0	1	1	0	0	0	0	0	8964	446	16	0	12926	0	LRP1B	2	141819647	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	5253332	141819647	101379726	99	1524										
GRB14	2888	broad.mit.edu	37	chr2	165350964	165350964	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tataatttgaaagtgctttaTtttttgtccatgactcattg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:165350964delT	ENST00000263915.3	-	13	1991	c.1453delA	c.(1453-1455)atafs	p.I485fs	GRB14_ENST00000543549.1_Frame_Shift_Del_p.I398fs|GRB14_ENST00000497306.1_Intron	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	485	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AAGTGCTTTATTTTTTGTCCA	0.333																																						ENST00000263915.3																			0				breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1453-1455)tafs		growth factor receptor-bound protein 14							147	153	151					2																	165350964		2203	4300	6503	SO:0001589	frameshift_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165350964delT		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1453delA	2.37:g.165350964delT	ENSP00000263915:p.Ile485fs		Somatic				GRB14_ENST00000543549.1_Frame_Shift_Del_p.I398fs|GRB14_ENST00000497306.1_Intron	p.I485fs	NM_004490.2	NP_004481.2	WXS	Illumina GAIIx	Phase_I	Q14449	GRB14_HUMAN			13	1991	-			485			SH2.		B7Z7F9|Q7Z6I1	Frame_Shift_Del	DEL	ENST00000263915.3	37	c.1453delA	CCDS2222.1																																																																																				0.333	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			26	48						26	48	---	---	---	---	-	165350964	T	-	165350964	7	5	21	1	0	1	0	1	0	0	0	0	6766	1493	52	0	177	0	GRB14	2	165350964	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	23531317	165350964	77848409	100	1525										
SCRN3	79634	broad.mit.edu	37	chr2	175292598	175292598	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aattcaaatttatcagtcaaAtttatcagtcaaagttagtt	4	5	5	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:175292598A>G	ENST00000272732.6	+	8	1332	c.1250A>G	c.(1249-1251)aAt>aGt	p.N417S	SCRN3_ENST00000409673.3_Missense_Mutation_p.N410S|SCRN3_ENST00000548921.1_3'UTR	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	417							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TATCAGTCAAATTTATCAGTC	0.323																																						ENST00000272732.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13						c.(1249-1251)aAt>aGt		secernin 3							70	66	67					2																	175292598		2203	4295	6498	SO:0001583	missense	79634				proteolysis		dipeptidase activity	g.chr2:175292598A>G	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.1250A>G	2.37:g.175292598A>G	ENSP00000272732:p.Asn417Ser		Somatic				SCRN3_ENST00000409673.3_Missense_Mutation_p.N410S|SCRN3_ENST00000548921.1_3'UTR	p.N417S	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	WXS	Illumina GAIIx	Phase_I	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		8	1332	+			417					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	ENST00000272732.6	37	c.1250A>G	CCDS2258.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.094093	0.56075	.	.	ENSG00000144306	ENST00000409673;ENST00000272732	T;T	0.08458	3.09;3.1	5.63	1.66	0.24008	.	0.577730	0.18418	N	0.141839	T	0.03220	0.0094	N	0.08118	0	0.09310	N	0.999999	B;B	0.10296	0.003;0.0	B;B	0.08055	0.003;0.002	T	0.44019	-0.9355	9	.	.	.	.	3.5872	0.07975	0.5449:0.0:0.2031:0.252	.	410;417	B4DI11;Q0VDG4	.;SCRN3_HUMAN	S	410;417	ENSP00000387142:N410S;ENSP00000272732:N417S	.	N	+	2	0	SCRN3	175000844	0.532000	0.26346	0.896000	0.35187	0.820000	0.46376	0.916000	0.28651	0.383000	0.24910	0.533000	0.62120	AAT		0.323	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		13	21	0	0	0	1	0	13	21					G	175292598	A	G	175292598	3	3	21	1	0	0	0	0	1	0	0	0	13955	101	4	4	1276	4	SCRN3	2	175292598	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	9941634	175292598	67906775	101	1526										
HOXD1	3231	broad.mit.edu	37	chr2	177053603	177053603	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgacgtgctcagcttggcacCcaagttctgccgctccgacg	11	16	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:177053603C>G	ENST00000331462.4	+	1	297	c.74C>G	c.(73-75)cCc>cGc	p.P25R	HOXD-AS1_ENST00000436126.1_RNA|HOXD-AS1_ENST00000425005.1_RNA|HOXD-AS1_ENST00000417086.1_RNA|HOXD-AS1_ENST00000413969.1_RNA|HOXD-AS1_ENST00000452365.1_RNA	NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	25					embryonic skeletal system development (GO:0048706)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		AGCTTGGCACCCAAGTTCTGC	0.706																																						ENST00000331462.4																			0				kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10						c.(73-75)cCc>cGc		homeobox D1							10	9	9					2																	177053603		2061	4043	6104	SO:0001583	missense	3231					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177053603C>G		CCDS2271.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128645	ENSG00000128645		"Homeoboxes / ANTP class : HOXL subclass"	5132	protein-coding gene	gene with protein product		142987	"homeo box D1"	HOX4, HOX4G		1973146, 1358459	Standard	NM_024501		Approved		uc002ukv.5	Q9GZZ0	OTTHUMG00000132512	ENST00000331462.4:c.74C>G	2.37:g.177053603C>G	ENSP00000328598:p.Pro25Arg		Somatic				HOXD-AS1_ENST00000413969.1_RNA	p.P25R	NM_024501.1	NP_078777.1	WXS	Illumina GAIIx	Phase_I	Q9GZZ0	HXD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)	1	297	+			25					B2RAB4	Missense_Mutation	SNP	ENST00000331462.4	37	c.74C>G	CCDS2271.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297802	0.60086	.	.	ENSG00000128645	ENST00000331462	D	0.92199	-2.99	4.22	4.22	0.49857	.	0.171393	0.28119	N	0.016532	D	0.89570	0.6753	L	0.27053	0.805	0.48395	D	0.999642	P;P	0.50443	0.935;0.935	P;P	0.48114	0.567;0.567	D	0.91326	0.5086	10	0.72032	D	0.01	.	16.1953	0.82023	0.0:1.0:0.0:0.0	.	25;25	Q96CA4;Q9GZZ0	.;HXD1_HUMAN	R	25	ENSP00000328598:P25R	ENSP00000328598:P25R	P	+	2	0	HOXD1	176761849	0.995000	0.38212	0.953000	0.39169	0.191000	0.23601	4.007000	0.57093	1.880000	0.54463	0.491000	0.48974	CCC		0.706	HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255693.2			10	15	0	0	0	1	0	10	15					G	177053603	C	G	177053603	3	3	21	1	0	0	0	0	1	0	0	0	7327	623	22	5	76	5	HOXD1	2	177053603	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1761005	177053603	66145770	102	1527										
DFNB59	494513	broad.mit.edu	37	chr2	179325760	179325760	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acagctttacttggatgatcTtttttctgactactatgaca							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:179325760delT	ENST00000409117.3	+	7	1174	c.818delT	c.(817-819)cttfs	p.L273fs	DFNB59_ENST00000375129.4_Frame_Shift_Del_p.L273fs	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	273					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)		p.L273P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TTGGATGATCTTTTTTCTGAC	0.348																																						ENST00000409117.3																			1	Substitution - Missense(1)	p.L273P(1)	kidney(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18						c.(817-819)ctfs		deafness, autosomal recessive 59							233	206	215					2																	179325760		1867	4107	5974	SO:0001589	frameshift_variant	494513				sensory perception of sound			g.chr2:179325760delT	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.818delT	2.37:g.179325760delT	ENSP00000386647:p.Leu273fs		Somatic				DFNB59_ENST00000375129.4_Frame_Shift_Del_p.L273fs	p.L273fs	NM_001042702.3	NP_001036167.1	WXS	Illumina GAIIx	Phase_I	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		7	1174	+			273					A0PK14|B9EJE2	Frame_Shift_Del	DEL	ENST00000409117.3	37	c.818delT	CCDS42787.1																																																																																				0.348	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			20	153						20	153	---	---	---	---	-	179325760	T	-	179325760	7	5	21	1	0	1	0	1	0	0	0	0	4458	1609	56	0	840	0	DFNB59	2	179325760	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2272157	179325760	63873613	103	1528										
TTN	7273	broad.mit.edu	37	chr2	179438269	179438269	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	catatttatttacagccatgAcacggaatatgtattcattg	6	7	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:179438269A>G	ENST00000591111.1	-	276	67891	c.67667T>C	c.(67666-67668)gTc>gCc	p.V22556A	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V15257A|TTN_ENST00000460472.2_Missense_Mutation_p.V15132A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V15324A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V24197A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V21629A|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22556	Fibronectin type-III 63. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACAGCCATGACACGGAATAT	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(72589-72591)gTc>gCc		titin							181	182	181					2																	179438269		1932	4125	6057	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438269A>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.67667T>C	2.37:g.179438269A>G	ENSP00000465570:p.Val22556Ala		Somatic				TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V15257A|TTN_ENST00000342992.6_Missense_Mutation_p.V21629A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V15324A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V15132A|TTN_ENST00000591111.1_Missense_Mutation_p.V22556A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.V24197A	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	72814	-			22556			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.72590T>C		.	.	.	.	.	.	.	.	.	.	A	13.78	2.339874	0.41398	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	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);	.	.	.	.	D	0.89518	0.6738	H	0.98754	4.32	0.58432	D	0.999999	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	P;P;P;P	0.51453	0.67;0.67;0.67;0.67	D	0.93446	0.6798	9	0.87932	D	0	.	16.6438	0.85155	1.0:0.0:0.0:0.0	.	15132;15257;15324;22556	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	21629;15132;15324;15257;15130	ENSP00000343764:V21629A;ENSP00000434586:V15132A;ENSP00000340554:V15324A;ENSP00000352154:V15257A	ENSP00000340554:V15324A	V	-	2	0	TTN	179146515	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.333000	0.79357	0.533000	0.62120	GTC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		81	158	0	0	0	1	0	81	158					G	179438269	A	G	179438269	3	3	21	1	0	0	0	0	1	0	0	0	16750	275	10	4	35537	4	TTN	2	179438269	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	112509	179438269	63761104	104	1529										
TTN	7273	broad.mit.edu	37	chr2	179575969	179575969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gccgtctttataccaagacaCggagataggttctgatccac	9	11	2	3	rs367734747		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:179575969C>T	ENST00000591111.1	-	95	27267	c.27043G>A	c.(27043-27045)Gtg>Atg	p.V9015M	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V9332M|TTN_ENST00000342992.6_Missense_Mutation_p.V8088M			Q8WZ42	TITIN_HUMAN	titin	13153	Ig-like 73.				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)			TACCAAGACACGGAGATAGGT	0.393																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(27994-27996)Gtg>Atg		titin		C	MET/VAL,,,	0,3722		0,0,1861	184	180	181		24262,,,	4.9	0.9	2		181	1,8229		0,1,4114	no	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	21,,,	0,1,5975	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging,,,	8088/33424,,,	179575969	1,11951	1861	4115	5976	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179575969C>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.27043G>A	2.37:g.179575969C>T	ENSP00000465570:p.Val9015Met		Somatic				TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V8088M|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V9015M|TTN-AS1_ENST00000592630.1_RNA	p.V9332M	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)		97	28218	-			9015			Ig-like 76.		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.27994G>A		.	.	.	.	.	.	.	.	.	.	C	13.65	2.299506	0.40694	0.0	1.22E-4	ENSG00000155657	ENST00000342992	T	0.76968	-1.06	5.76	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90776	0.7104	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.93261	0.6643	9	0.87932	D	0	.	15.4076	0.74890	0.0:0.9331:0.0:0.0669	.	9015	Q8WZ42	TITIN_HUMAN	M	8088	ENSP00000343764:V8088M	ENSP00000343764:V8088M	V	-	1	0	TTN	179284214	0.991000	0.36638	0.914000	0.36105	0.948000	0.59901	2.913000	0.48790	1.589000	0.49982	-0.126000	0.14955	GTG		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		63	124	0	0	0	1	0	63	124					T	179575969	C	T	179575969	3	4	21	1	0	0	0	0	1	0	0	0	16750	536	19	1	76599	1	TTN	2	179575969	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	137700	179575969	63623404	105	1530										
ANKAR	150709	broad.mit.edu	37	chr2	190606079	190606079	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aatttatagggaatttaataGcaagcctggctcattctaga	8	6	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:190606079G>C	ENST00000520309.1	+	20	3800	c.3712G>C	c.(3712-3714)Gca>Cca	p.A1238P	ANKAR_ENST00000431575.2_Missense_Mutation_p.A1167P|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.A1238P|ANKAR_ENST00000281412.6_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1238						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GAATTTAATAGCAAGCCTGGC	0.338																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(3712-3714)Gca>Cca		ankyrin and armadillo repeat containing							58	60	59					2																	190606079		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190606079G>C	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3712G>C	2.37:g.190606079G>C	ENSP00000427882:p.Ala1238Pro		Somatic				ANKAR_ENST00000313581.4_Missense_Mutation_p.A1238P|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.A1167P	p.A1238P	NM_144708.3	NP_653309.3	WXS	Illumina GAIIx	Phase_I	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		20	3800	+			1238					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.3712G>C	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432800	0.83776	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000431575;ENST00000374838	T;T;T	0.06933	3.24;3.24;3.24	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000003	T	0.32704	0.0838	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01711	-1.1290	10	0.72032	D	0.01	-16.2641	18.5817	0.91174	0.0:0.0:1.0:0.0	.	314	E9PHS9	.	P	1238;1238;1167;314	ENSP00000427882:A1238P;ENSP00000313513:A1238P;ENSP00000393043:A1167P	ENSP00000313513:A1238P	A	+	1	0	ANKAR	190314324	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.304000	0.72800	2.682000	0.91365	0.585000	0.79938	GCA		0.338	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		25	42	0	0	0	1	0	25	42					C	190606079	G	C	190606079	3	2	21	1	0	0	0	0	1	0	0	0	623	971	34	5	3786	5	ANKAR	2	190606079	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	11030110	190606079	52593294	106	1531										
DNAH7	56171	broad.mit.edu	37	chr2	196788373	196788374	+	Frame_Shift_Ins	INS	-	-	T													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agtcagagtcatcgctaataINStttttttttacaagtgatga					rs397987193|rs71015736|rs34468832		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:196788373_196788374insT	ENST00000312428.6	-	23	3870_3871	c.3770_3771insA	c.(3769-3771)aatfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1257	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						CATCGCTAATATTTTTTTTTAC	0.421																																						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.(3769-3771)aatfs		dynein, axonemal, heavy chain 7				0,3664		0,0,1832						-9.7	0		dbSNP_126	97	3,7917		0,3,3957	no	frameshift	DNAH7	NM_018897.2		0,3,5789	A1A1,A1R,RR		0.0379,0.0,0.0259				3,11581				SO:0001589	frameshift_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196788373_196788374insT	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.3771dupA	2.37:g.196788382_196788382dupT	ENSP00000311273:p.Asn1257fs		Somatic					p.N1257fs	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	Q8WXX0	DYH7_HUMAN			23	3870_3871	-			1257			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Ins	INS	ENST00000312428.6	37	c.3770_3771insA	CCDS42794.1																																																																																				0.421	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		21	46						21	46	---	---	---	---	T	196788374	-	T	196788373	7	5	21	1	0	1	1	0	0	0	0	0	4608	446	16	0	8475	0	DNAH7	2	196788373	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	6182294	196788373	46411000	107	1532										
DNAH7	56171	broad.mit.edu	37	chr2	196922833	196922833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggatttttctttgctggccGatttatcctgtatgaaaaac	8	7	1	1	rs371246623		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:196922833G>A	ENST00000312428.6	-	2	123	c.23C>T	c.(22-24)tCg>tTg	p.S8L	DNAH7_ENST00000410072.1_Missense_Mutation_p.S8L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	8	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						TTTGCTGGCCGATTTATCCTG	0.313																																						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.(22-24)tCg>tTg		dynein, axonemal, heavy chain 7		G	LEU/SER	0,3602		0,0,1801	184	177	179		23	2.5	0	2		179	1,8137		0,1,4068	no	missense	DNAH7	NM_018897.2	145	0,1,5869	AA,AG,GG		0.0123,0.0,0.0085	benign	8/4025	196922833	1,11739	1801	4069	5870	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196922833G>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.23C>T	2.37:g.196922833G>A	ENSP00000311273:p.Ser8Leu		Somatic				DNAH7_ENST00000410072.1_Missense_Mutation_p.S8L	p.S8L	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	Q8WXX0	DYH7_HUMAN			2	123	-			8			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.23C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	4.801	0.148966	0.09185	0.0	1.23E-4	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446	T;T	0.21031	2.03;2.93	4.29	2.48	0.30137	.	.	.	.	.	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37619	-0.9698	9	0.17832	T	0.49	.	6.3241	0.21234	0.2249:0.0:0.7751:0.0	.	8	Q8WXX0	DYH7_HUMAN	L	8	ENSP00000311273:S8L;ENSP00000386260:S8L	ENSP00000311273:S8L	S	-	2	0	DNAH7	196631078	0.001000	0.12720	0.009000	0.14445	0.298000	0.27526	0.203000	0.17315	0.742000	0.32697	-0.214000	0.12660	TCG		0.313	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		31	33	0	0	0	1	0	31	33					A	196922833	G	A	196922833	3	1	21	1	0	0	0	0	1	0	0	0	4608	1059	37	1	12307	1	DNAH7	2	196922833	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	134460	196922833	46276540	108	1533										
SF3B1	23451	broad.mit.edu	37	chr2	198274672	198274672	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggggttgctccaggagtctcGcttccctttgcacgacctgg	13	13	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:198274672G>A	ENST00000335508.6	-	7	817	c.726C>T	c.(724-726)agC>agT	p.S242S		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	242	Interaction with PPP1R8.|U2AF homology region; mediates interaction with RMB39.				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)			CAGGAGTCTCGCTTCCCTTTG	0.512			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"splicing factor 3b, subunit 1, 155kDa"			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(724-726)agC>agT		splicing factor 3b, subunit 1, 155kDa							118	112	114					2																	198274672		2203	4300	6503	SO:0001819	synonymous_variant	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198274672G>A	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.726C>T	2.37:g.198274672G>A			Somatic					p.S242S	NM_012433.2	NP_036565.2	WXS	Illumina GAIIx	Phase_I	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		7	817	-			242			Interaction with PPP1R8.		E9PCH3	Silent	SNP	ENST00000335508.6	37	c.726C>T	CCDS33356.1																																																																																				0.512	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			37	54	0	0	0	1	0	37	54					A	198274672	G	A	198274672	2	1	21	1	0	0	0	0	0	0	0	1	14164	1078	38	1		1	SF3B1	2	198274672	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1351839	198274672	44924701	109	1534										
ORC2L	4999	broad.mit.edu	37	chr2	201785020	201785021	+	Frame_Shift_Del	DEL	AG	AG	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atccagactgctttaccagaAgagagttctcataggaggtt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:201785020_201785021delAG	ENST00000234296.2	-	15	1639_1640	c.1390_1391delCT	c.(1390-1392)cttfs	p.L465fs		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	465					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						CTTTACCAGAAGAGAGTTCTCA	0.426																																						ENST00000234296.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						c.(1390-1392)tfs		origin recognition complex, subunit 2																																				SO:0001589	frameshift_variant	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201785020_201785021delAG		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"origin recognition complex, subunit 2 (yeast homolog)-like", "origin recognition complex, subunit 2-like (yeast)", "origin recognition complex, subunit 2 homolog (yeast)"	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.1390_1391delCT	2.37:g.201785024_201785025delAG	ENSP00000234296:p.Leu465fs		Somatic					p.L465fs	NM_006190.4	NP_006181.1	WXS	Illumina GAIIx	Phase_I	Q13416	ORC2_HUMAN			15	1639_1640	-			465					Q13204|Q53TX5	Frame_Shift_Del	DEL	ENST00000234296.2	37	c.1390_1391delCT	CCDS2334.1																																																																																				0.426	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190		31	60						31	60	---	---	---	---	-	201785021	AG	-	201785020	7	5	21	1	0	1	0	1	0	0	0	0	11271	72	3	0	358	0	ORC2L	2	201785020	Frame_Shift_Del	DEL	AG	TCGA-N7-A4Y0-01A-12D-A28R-08	3510348	201785020	41414353	110	1535										
GPR1	2825	broad.mit.edu	37	chr2	207041592	207041592	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccaggctgatcactgtcaggAaaaaaacactggcaaacatg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:207041592delA	ENST00000407325.2	-	3	742	c.380delT	c.(379-381)ttcfs	p.F127fs	GPR1_ENST00000437420.1_Frame_Shift_Del_p.F127fs	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	127					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CACTGTCAGGAAAAAAACACT	0.458																																						ENST00000407325.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18						c.(379-381)tcfs		G protein-coupled receptor 1							111	104	106					2																	207041592		2203	4300	6503	SO:0001589	frameshift_variant	2825					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:207041592delA		CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"GPCR / Class A : Orphans"	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.380delT	2.37:g.207041592delA	ENSP00000384345:p.Phe127fs		Somatic				GPR1_ENST00000437420.1_Frame_Shift_Del_p.F127fs	p.F127fs	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	WXS	Illumina GAIIx	Phase_I	P46091	GPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)	3	742	-		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)	127					A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Frame_Shift_Del	DEL	ENST00000407325.2	37	c.380delT	CCDS2368.1																																																																																				0.458	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		55	67						55	67	---	---	---	---	-	207041592	A	-	207041592	7	5	21	1	0	1	0	1	0	0	0	0	6629	246	9	0	691	0	GPR1	2	207041592	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	5256572	207041592	36157781	111	1536										
CCDC108	255101	broad.mit.edu	37	chr2	219883883	219883883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agccttaaaggggtgaggacGggggggatctggctcatgct	18	7	2	1	rs568903495		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:219883883G>A	ENST00000341552.5	-	21	3575	c.3492C>T	c.(3490-3492)ccC>ccT	p.P1164P	CCDC108_ENST00000453220.1_Silent_p.P1164P|CCDC108_ENST00000441968.1_Silent_p.P1164P	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1164						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)		GGGTGAGGACGGGGGGGATCT	0.612													G|||	1	0.000199681	8e-04	0	5008	,	,		18392	0		0	False		,,,				2504	0					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.(3490-3492)ccC>ccT		coiled-coil domain containing 108							46	53	51					2																	219883883		2203	4299	6502	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219883883G>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.3492C>T	2.37:g.219883883G>A			Somatic				CCDC108_ENST00000453220.1_Silent_p.P1164P|CCDC108_ENST00000441968.1_Silent_p.P1164P	p.P1164P	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)	21	3575	-		Renal(207;0.0915)	1164					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.3492C>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	0.778	-0.763265	0.02996	.	.	ENSG00000181378	ENST00000413871	.	.	.	4.68	-6.39	0.01951	.	0.797742	0.10674	N	0.647250	T	0.24236	0.0587	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.32268	-0.9913	6	0.66056	D	0.02	-1.4783	1.2545	0.01989	0.3817:0.0912:0.2494:0.2777	.	.	.	.	L	73	.	ENSP00000394019:P73L	P	-	2	0	CCDC108	219592127	0.000000	0.05858	0.000000	0.03702	0.318000	0.28184	-3.019000	0.00643	-1.455000	0.01923	-0.291000	0.09656	CCG		0.612	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		39	61	0	0	0	1	0	39	61					A	219883883	G	A	219883883	2	1	21	1	0	0	0	0	0	0	0	1	2745	1103	39	1		1	CCDC108	2	219883883	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	12842291	219883883	23315490	112	1537										
CCDC108	255101	broad.mit.edu	37	chr2	219895832	219895832	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggaggttgggcctcacccacAgcctgcagctggatgctgct	14	13	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:219895832A>G	ENST00000341552.5	-	8	1094	c.1011T>C	c.(1009-1011)gcT>gcC	p.A337A	CCDC108_ENST00000453220.1_Silent_p.A337A|CCDC108_ENST00000410037.1_Silent_p.A272A|CCDC108_ENST00000441968.1_Silent_p.A337A|CCDC108_ENST00000409865.3_Silent_p.A326A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	337						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)		CCTCACCCACAGCCTGCAGCT	0.677																																						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.(1009-1011)gcT>gcC		coiled-coil domain containing 108							22	22	22					2																	219895832		2195	4297	6492	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219895832A>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.1011T>C	2.37:g.219895832A>G			Somatic				CCDC108_ENST00000453220.1_Silent_p.A337A|CCDC108_ENST00000410037.1_Silent_p.A272A|CCDC108_ENST00000409865.3_Silent_p.A326A|CCDC108_ENST00000441968.1_Silent_p.A337A	p.A337A	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)	8	1094	-		Renal(207;0.0915)	337					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.1011T>C	CCDS2430.2																																																																																				0.677	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		4	6	0	0	0	1	0	4	6					G	219895832	A	G	219895832	2	3	21	1	0	0	0	0	0	0	0	1	2745	175	7	4		4	CCDC108	2	219895832	Silent	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	11949	219895832	23303541	113	1538										
C2orf24	27013	broad.mit.edu	37	chr2	220037432	220037432	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggggggagccaggccatagGtatggtaccaggggctggac	19	8	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:220037432G>C	ENST00000409789.1	-	9	1536	c.1109C>G	c.(1108-1110)aCc>aGc	p.T370S	SLC23A3_ENST00000455516.2_5'Flank|SLC23A3_ENST00000396775.3_5'Flank|CNPPD1_ENST00000360507.5_Missense_Mutation_p.T370S|SLC23A3_ENST00000295738.7_5'Flank|SLC23A3_ENST00000409878.3_5'Flank			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	370	Pro-rich.				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						CAGGCCATAGGTATGGTACCA	0.617																																						ENST00000409789.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						c.(1108-1110)aCc>aGc		cyclin Pas1/PHO80 domain containing 1							54	55	55					2																	220037432		2203	4300	6503	SO:0001583	missense	27013				regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding	g.chr2:220037432G>C	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.1109C>G	2.37:g.220037432G>C	ENSP00000386277:p.Thr370Ser		Somatic				CNPPD1_ENST00000360507.5_Missense_Mutation_p.T370S	p.T370S			WXS	Illumina GAIIx	Phase_I	Q9BV87	CNPD1_HUMAN			9	1536	-			370			Pro-rich.		B2RC77|O75548|Q9H4N0|Q9UQN0	Missense_Mutation	SNP	ENST00000409789.1	37	c.1109C>G	CCDS2433.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.638557	0.00799	.	.	ENSG00000115649	ENST00000360507;ENST00000409789	T;T	0.14144	2.53;2.53	5.04	4.13	0.48395	.	1.124130	0.06403	N	0.719218	T	0.07908	0.0198	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21280	-1.0250	10	0.07482	T	0.82	-8.5775	11.6583	0.51330	0.0:0.0:0.6797:0.3203	.	370	Q9BV87	CNPD1_HUMAN	S	370	ENSP00000353698:T370S;ENSP00000386277:T370S	ENSP00000353698:T370S	T	-	2	0	CNPPD1	219745676	0.187000	0.23238	0.003000	0.11579	0.346000	0.29079	1.636000	0.37144	1.287000	0.44583	0.655000	0.94253	ACC		0.617	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336220.1	NM_015680		31	24	0	0	0	1	0	31	24					C	220037432	G	C	220037432	3	2	21	1	0	0	0	0	1	0	0	0	2161	1261	44	5	127	5	C2orf24	2	220037432	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	141600	220037432	23161941	114	1539										
ZFAND2B	130617	broad.mit.edu	37	chr2	220073024	220073024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctgtggcttctacaagcactGtccccagcccaagtcaaacc	7	16	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:220073024G>A	ENST00000289528.5	+	5	676	c.481G>A	c.(481-483)Gtc>Atc	p.V161I	ZFAND2B_ENST00000409336.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409594.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.V161I	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	161						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TACAAGCACTGTCCCCAGCCC	0.547																																						ENST00000409594.1																			0				endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11						c.(481-483)Gtc>Atc		zinc finger, AN1-type domain 2B							103	82	89					2																	220073024		2203	4300	6503	SO:0001583	missense	130617					endoplasmic reticulum	protein binding|zinc ion binding	g.chr2:220073024G>A	AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"Zinc fingers, AN1-type domain containing"	25206	protein-coding gene	gene with protein product	"arsenite inducible RNA associated protein-like"	613474	"zinc finger, AN1-type 2B"			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.481G>A	2.37:g.220073024G>A	ENSP00000289528:p.Val161Ile		Somatic				ZFAND2B_ENST00000409206.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.V161I	p.V161I			WXS	Illumina GAIIx	Phase_I	Q8WV99	ZFN2B_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	676	+		Renal(207;0.0915)	161					Q8NB98	Missense_Mutation	SNP	ENST00000289528.5	37	c.481G>A	CCDS2435.1	.	.	.	.	.	.	.	.	.	.	G	4.693	0.128887	0.08981	.	.	ENSG00000158552	ENST00000409206;ENST00000409594;ENST00000289528;ENST00000422255;ENST00000409097;ENST00000409336;ENST00000409217;ENST00000444522	T;T;T;T;T;T;T;T	0.43688	0.96;0.96;0.98;0.95;0.94;0.98;0.97;0.94	5.18	-5.32	0.02722	.	1.892250	0.02108	N	0.054503	T	0.26304	0.0642	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.18053	-1.0349	10	0.29301	T	0.29	-16.0718	16.333	0.83050	0.1619:0.0:0.8381:0.0	.	52;161;161	B3KQB0;Q8WV99;B4DEN4	.;ZFN2B_HUMAN;.	I	161	ENSP00000386824:V161I;ENSP00000386399:V161I;ENSP00000289528:V161I;ENSP00000409931:V161I;ENSP00000387179:V161I;ENSP00000386898:V161I;ENSP00000386370:V161I;ENSP00000411334:V161I	ENSP00000289528:V161I	V	+	1	0	ZFAND2B	219781268	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-0.419000	0.07071	-1.123000	0.02940	-0.290000	0.09829	GTC		0.547	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256824.2	NM_138802		22	21	0	0	0	1	0	22	21					A	220073024	G	A	220073024	3	1	21	1	0	0	0	0	1	0	0	0	17643	1377	48	3	499	3	ZFAND2B	2	220073024	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	35592	220073024	23126349	115	1540										
ABCB6	10058	broad.mit.edu	37	chr2	220077176	220077176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgtagaagcgaaacagcaggCgcaaaattgtgctcttccct	10	11	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:220077176C>T	ENST00000265316.3	-	14	2217	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H	ABCB6_ENST00000439002.2_Missense_Mutation_p.R588H	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	634	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)			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)		AAACAGCAGGCGCAAAATTGT	0.512																																						ENST00000265316.3																			0				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.(1900-1902)cGc>cAc		ATP-binding cassette, sub-family B (MDR/TAP), member 6							114	106	109					2																	220077176		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.chr2:220077176C>T	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.1901G>A	2.37:g.220077176C>T	ENSP00000265316:p.Arg634His		Somatic				ABCB6_ENST00000439002.2_Missense_Mutation_p.R588H	p.R634H	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)	14	2217	-		Renal(207;0.0474)	634			ABC transporter.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.1901G>A	CCDS2436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.354901|5.354901	0.95854|0.95854	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000295750|ENST00000265316;ENST00000439002	.|D;D	.|0.94330	.|-3.4;-3.4	4.71|4.71	4.71|4.71	0.59529|0.59529	.|ATPase, AAA+ type, core (1);ABC transporter-like (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95227|0.95227	0.8452|0.8452	L|L	0.43757|0.43757	1.38|1.38	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	0.95736|0.95736	0.8779|0.8779	5|10	.|0.87932	.|D	.|0	-15.0202|-15.0202	17.8222|17.8222	0.88653|0.88653	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|588;634	.|Q9NP58-4;Q9NP58	.|.;ABCB6_HUMAN	T|H	482|634;588	.|ENSP00000265316:R634H;ENSP00000394333:R588H	.|ENSP00000265316:R634H	A|R	-|-	1|2	0|0	ABCB6|ABCB6	219785420|219785420	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.980000|0.980000	0.70556|0.70556	7.333000|7.333000	0.79214|0.79214	2.606000|2.606000	0.88127|0.88127	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.512	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		23	37	0	0	0	1	0	23	37					T	220077176	C	T	220077176	3	4	21	1	0	0	0	0	1	0	0	0	45	768	27	1	651	1	ABCB6	2	220077176	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	4152	220077176	23122197	116	1541										
IRS1	3667	broad.mit.edu	37	chr2	227661891	227661891	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgccgagtgagttctctttcGgaaccgattatccagatctg	10	10	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:227661891G>A	ENST00000305123.5	-	1	2584	c.1564C>T	c.(1564-1566)Cga>Tga	p.R522*	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	522					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)		GTTCTCTTTCGGAACCGATTA	0.577											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(1564-1566)Cga>Tga		insulin receptor substrate 1							61	64	63					2																	227661891		2203	4300	6503	SO:0001587	stop_gained	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.chr2:227661891G>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.1564C>T	2.37:g.227661891G>A	ENSP00000304895:p.Arg522*		Somatic	OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.R522*	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	2584	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	522						Nonsense_Mutation	SNP	ENST00000305123.5	37	c.1564C>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	47	13.300186	0.99733	.	.	ENSG00000169047	ENST00000305123	.	.	.	5.37	4.46	0.54185	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5753	13.005	0.58699	0.0:0.0:0.645:0.355	.	.	.	.	X	522	.	ENSP00000304895:R522X	R	-	1	2	IRS1	227370135	1.000000	0.71417	0.994000	0.49952	0.833000	0.47200	1.927000	0.40094	2.511000	0.84671	0.555000	0.69702	CGA		0.577	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		23	59	0	0	0	1	0	23	59					A	227661891	G	A	227661891	4	1	21	1	0	0	0	0	0	1	0	0	7849	1124	39	1	2168	1	IRS1	2	227661891	Nonsense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	7584715	227661891	15537482	117	1542										
DNER	92737	broad.mit.edu	37	chr2	230223281	230223281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aatctttagttttaatcagtGtgaccaagggtttgtcatca	8	6	4	1	rs370899509		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:230223281G>A	ENST00000341772.4	-	13	2323	c.2189C>T	c.(2188-2190)aCa>aTa	p.T730I		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	730					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)		TTTAATCAGTGTGACCAAGGG	0.333																																						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.(2188-2190)aCa>aTa		delta/notch-like EGF repeat containing		G	ILE/THR	0,4406		0,0,2203	75	76	76		2189	5.9	1	2		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNER	NM_139072.3	89	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	730/738	230223281	1,13005	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.chr2:230223281G>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.2189C>T	2.37:g.230223281G>A	ENSP00000345229:p.Thr730Ile		Somatic					p.T730I	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)	13	2323	-		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)	730					A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.2189C>T	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416756	0.83449	0.0	1.16E-4	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.86694	-2.16	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.88198	0.6372	N	0.14661	0.345	0.58432	D	0.999997	D	0.76494	0.999	D	0.64144	0.922	D	0.89958	0.4084	10	0.87932	D	0	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	730	Q8NFT8	DNER_HUMAN	I	730;448	ENSP00000345229:T730I	ENSP00000345229:T730I	T	-	2	0	DNER	229931525	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.905000	0.92613	2.808000	0.96608	0.650000	0.86243	ACA		0.333	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		32	30	0	0	0	1	0	32	30					A	230223281	G	A	230223281	3	1	21	1	0	0	0	0	1	0	0	0	4669	1377	48	3	28	3	DNER	2	230223281	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2561390	230223281	12976092	118	1543										
SP110	3431	broad.mit.edu	37	chr2	231072718	231072718	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	catcttacctcctgggaggcTttttttcttatgtctccttt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:231072718delT	ENST00000358662.4	-	8	964	c.886delA	c.(886-888)agcfs	p.S296fs	SP110_ENST00000392048.3_Frame_Shift_Del_p.S296fs|SP110_ENST00000258382.5_Frame_Shift_Del_p.S296fs|SP110_ENST00000540870.1_Frame_Shift_Del_p.S302fs|SP110_ENST00000338556.3_Frame_Shift_Del_p.S48fs|SP110_ENST00000258381.6_Frame_Shift_Del_p.S296fs|SP110_ENST00000486146.2_5'UTR	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	296					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)		CCTGGGAGGCTTTTTTTCTTA	0.393																																						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.(886-888)gcfs		SP110 nuclear body protein							122	115	117					2																	231072718		2199	4298	6497	SO:0001589	frameshift_variant	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231072718delT	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.886delA	2.37:g.231072718delT	ENSP00000351488:p.Ser296fs		Somatic				SP110_ENST00000486146.2_5'UTR|SP110_ENST00000338556.3_Frame_Shift_Del_p.S48fs|SP110_ENST00000258382.5_Frame_Shift_Del_p.S296fs|SP110_ENST00000358662.4_Frame_Shift_Del_p.S296fs|SP110_ENST00000540870.1_Frame_Shift_Del_p.S302fs|SP110_ENST00000392048.3_Frame_Shift_Del_p.S296fs	p.S296fs	NM_080424.2	NP_536349.2	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)	8	963	-		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)	296					B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Frame_Shift_Del	DEL	ENST00000358662.4	37	c.886delA	CCDS2474.1																																																																																				0.393	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		3	6						3	6	---	---	---	---	-	231072718	T	-	231072718	7	5	21	1	0	1	0	1	0	0	0	0	14976	1609	56	0	1367	0	SP110	2	231072718	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	849437	231072718	12126655	119	1544										
INPP5D	3635	broad.mit.edu	37	chr2	234070428	234070428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaacaagcactcagagcagcCggagcccgacatgatcacca	10	14	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:234070428C>T	ENST00000359570.5	+	13	1160	c.1160C>T	c.(1159-1161)cCg>cTg	p.P387L	INPP5D_ENST00000455936.2_Missense_Mutation_p.P151L|INPP5D_ENST00000450745.1_Missense_Mutation_p.P151L|INPP5D_ENST00000538935.1_Missense_Mutation_p.P386L			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	399					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)		TCAGAGCAGCCGGAGCCCGAC	0.587																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(1159-1161)cCg>cTg		inositol polyphosphate-5-phosphatase, 145kDa							45	51	49					2																	234070428		2195	4299	6494	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.chr2:234070428C>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.1160C>T	2.37:g.234070428C>T	ENSP00000352575:p.Pro387Leu		Somatic				INPP5D_ENST00000455936.2_Missense_Mutation_p.P151L|INPP5D_ENST00000450745.1_Missense_Mutation_p.P151L|INPP5D_ENST00000538935.1_Missense_Mutation_p.P386L	p.P387L			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)	13	1160	+		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)	399					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.1160C>T		.	.	.	.	.	.	.	.	.	.	C	17.34	3.365594	0.61513	.	.	ENSG00000168918	ENST00000359570;ENST00000538935;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	4.69	4.69	0.59074	Endonuclease/exonuclease/phosphatase (1);	0.274640	0.42053	D	0.000761	D	0.91123	0.7205	.	.	.	0.50313	D	0.999864	P;B	0.35456	0.502;0.202	B;B	0.21546	0.035;0.015	D	0.91692	0.5367	9	0.66056	D	0.02	.	18.1643	0.89719	0.0:1.0:0.0:0.0	.	398;399	Q92835-2;Q92835	.;SHIP1_HUMAN	L	387;386;151;151;20;20;20	ENSP00000352575:P387L;ENSP00000441010:P386L;ENSP00000407916:P151L;ENSP00000404610:P151L;ENSP00000400151:P20L;ENSP00000397421:P20L;ENSP00000405338:P20L	ENSP00000352575:P387L	P	+	2	0	INPP5D	233734478	0.999000	0.42202	0.994000	0.49952	0.987000	0.75469	4.232000	0.58645	2.583000	0.87209	0.655000	0.94253	CCG		0.587	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		13	10	0	0	0	1	0	13	10					T	234070428	C	T	234070428	3	4	21	1	0	0	0	0	1	0	0	0	7765	652	23	1	746	1	INPP5D	2	234070428	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2997710	234070428	9128945	120	1545										
HJURP	55355	broad.mit.edu	37	chr2	234750399	234750399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acggcaagaaacatctaataCgttcttgcaatctcttaatg	6	9	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:234750399C>T	ENST00000411486.2	-	8	1092	c.1027G>A	c.(1027-1029)Gta>Ata	p.V343I	HJURP_ENST00000432087.1_Missense_Mutation_p.V289I|HJURP_ENST00000441687.1_Missense_Mutation_p.V258I|HJURP_ENST00000434039.1_5'Flank	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	343					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)			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)		ACATCTAATACGTTCTTGCAA	0.438																																						ENST00000411486.2																			0				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.(1027-1029)Gta>Ata		Holliday junction recognition protein							66	68	67					2																	234750399		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.chr2:234750399C>T		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.1027G>A	2.37:g.234750399C>T	ENSP00000414109:p.Val343Ile		Somatic				HJURP_ENST00000441687.1_Missense_Mutation_p.V258I|HJURP_ENST00000432087.1_Missense_Mutation_p.V289I	p.V343I	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)	8	1092	-		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)	343					A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	c.1027G>A	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	C	8.941	0.965729	0.18583	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	4.36	-8.72	0.00845	Holliday junction recognition protein, HJURP (1);	0.813056	0.09962	N	0.733317	T	0.22704	0.0548	L	0.29908	0.895	0.09310	N	1	B;B;B	0.31026	0.259;0.259;0.304	B;B;B	0.26614	0.042;0.042;0.071	T	0.09443	-1.0674	10	0.37606	T	0.19	-0.0153	9.4275	0.38590	0.1518:0.463:0.3852:0.0	.	258;289;343	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	I	343;289;258;258	ENSP00000414109:V343I;ENSP00000407208:V289I;ENSP00000401944:V258I;ENSP00000393253:V258I	ENSP00000414109:V343I	V	-	1	0	HJURP	234415138	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.956000	0.03865	-1.916000	0.01075	-1.175000	0.01729	GTA		0.438	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		20	23	0	0	0	1	0	20	23					T	234750399	C	T	234750399	3	4	21	1	0	0	0	0	1	0	0	0	7198	536	19	1	1227	1	HJURP	2	234750399	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	679971	234750399	8448974	121	1546										
MSL3L2	151507	broad.mit.edu	37	chr2	234775123	234775123	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acacaggactcccttcctggCtaggagtcagagtaggtgaa	12	10	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:234775123C>T	ENST00000438684.1	-	0	991					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											CCCTTCCTGGCTAGGAGTCAG	0.502																																						ENST00000438684.1																			0																				127	104	111					2																	234775123		692	1591	2283			0							g.chr2:234775123C>T	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"male-specific lethal 3-like 2 (Drosophila)"	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234775123C>T			Somatic						NR_024322.1		WXS	Illumina GAIIx	Phase_I					0	991	-									RNA	SNP	ENST00000438684.1	37																																																																																						0.502	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		25	57	0	0	0	1	0	25	57					T	234775123	C	T	234775123	1	4	21	0	1	0	0	0	0	0	0	0	9889	797	28	3		3	MSL3L2	2	234775123	RNA	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	24724	234775123	8424250	122	1547										
RNPEPL1	57140	broad.mit.edu	37	chr2	241517019	241517019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gagtgcccctcctgcagatgTcacgcatgtacaccatcccg	9	16	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:241517019T>C	ENST00000270357.4	+	11	1788	c.1195T>C	c.(1195-1197)Tca>Cca	p.S399P	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	399					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCTGCAGATGTCACGCATGTA	0.697																																						ENST00000270357.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13						c.(1195-1197)Tca>Cca		arginyl aminopeptidase (aminopeptidase B)-like 1							41	47	45					2																	241517019		2189	4289	6478	SO:0001583	missense	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241517019T>C			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.1195T>C	2.37:g.241517019T>C	ENSP00000270357:p.Ser399Pro		Somatic				RNPEPL1_ENST00000464550.1_3'UTR	p.S399P	NM_018226.4	NP_060696.4	WXS	Illumina GAIIx	Phase_I	Q9HAU8	RNPL1_HUMAN		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)	11	1788	+		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)	399					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37	c.1195T>C		.	.	.	.	.	.	.	.	.	.	t	20.7	4.042319	0.75732	.	.	ENSG00000142327	ENST00000270357;ENST00000437406	T;T	0.44482	0.92;0.92	4.42	4.42	0.53409	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58609	0.2134	L	0.57536	1.79	0.53005	D	0.999968	D;D	0.76494	0.999;0.976	D;P	0.87578	0.998;0.864	T	0.61720	-0.7005	10	0.72032	D	0.01	-6.6606	11.6129	0.51072	0.0:0.0:0.0:1.0	.	305;399	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	P	399;152	ENSP00000270357:S399P;ENSP00000403319:S152P	ENSP00000270357:S399P	S	+	1	0	RNPEPL1	241165692	1.000000	0.71417	0.997000	0.53966	0.856000	0.48823	5.596000	0.67570	1.639000	0.50556	0.478000	0.44815	TCA		0.697	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		26	31	0	0	0	1	0	26	31					C	241517019	T	C	241517019	3	2	21	1	0	0	0	0	1	0	0	0	13525	1667	58	4	1229	4	RNPEPL1	2	241517019	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	6741896	241517019	1682354	123	1548										
AGXT	189	broad.mit.edu	37	chr2	241808756	241808756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggcatttgggggcagcgagCcgtggacatcggggagcgca	19	9	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:241808756C>T	ENST00000307503.3	+	2	722	c.335C>T	c.(334-336)gCc>gTc	p.A112V		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	112			A -> D (in HP1). {ECO:0000269|PubMed:12559847}.		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)	GGGCAGCGAGCCGTGGACATC	0.647																																						ENST00000307503.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18	GRCh37	CM034083	AGXT	M		c.(334-336)gCc>gTc		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						62	62	62					2																	241808756		2203	4300	6503	SO:0001583	missense	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.chr2:241808756C>T	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.335C>T	2.37:g.241808756C>T	ENSP00000302620:p.Ala112Val		Somatic					p.A112V	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)	2	722	+		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)	112		A -> D (in HP1).			Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	37	c.335C>T	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	C	4.658	0.122260	0.08931	.	.	ENSG00000172482	ENST00000307503	D	0.87809	-2.3	4.12	3.21	0.36854	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.231489	0.42964	D	0.000638	T	0.81508	0.4837	L	0.55481	1.735	0.58432	D	0.999998	P;P	0.47910	0.902;0.683	B;B	0.38194	0.267;0.267	T	0.80578	-0.1320	10	0.28530	T	0.3	-18.9249	12.6214	0.56605	0.0:0.9131:0.0:0.0869	.	112;112	B7Z548;P21549	.;SPYA_HUMAN	V	112	ENSP00000302620:A112V	ENSP00000302620:A112V	A	+	2	0	AGXT	241457429	0.914000	0.31030	0.665000	0.29768	0.337000	0.28794	1.719000	0.38011	2.007000	0.58848	0.591000	0.81541	GCC		0.647	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		41	41	0	0	0	1	0	41	41					T	241808756	C	T	241808756	3	4	21	1	0	0	0	0	1	0	0	0	404	739	26	3	341	3	AGXT	2	241808756	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	291737	241808756	1390617	124	1549										
MTERFD2	130916	broad.mit.edu	37	chr2	242036781	242036781	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agaagcctgacagtgtcgttAatgtcctgctggcgcatggt	13	9	0	2	rs377091448		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:242036781A>G	ENST00000391980.2	-	3	640	c.582T>C	c.(580-582)atT>atC	p.I194I	MTERFD2_ENST00000407095.3_Silent_p.I194I|MTERFD2_ENST00000406593.1_Silent_p.I6I|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		194					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)		CAGTGTCGTTAATGTCCTGCT	0.463																																						ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(580-582)atT>atC		MTERF domain containing 2		A		0,4406		0,0,2203	104	90	95		582	-7.7	0	2		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MTERFD2	NM_182501.3		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		194/382	242036781	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	130916							g.chr2:242036781A>G																												ENST00000391980.2:c.582T>C	2.37:g.242036781A>G			Somatic				MTERFD2_ENST00000407095.3_Silent_p.I194I|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Silent_p.I6I	p.I194I	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)	3	640	-		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)	194					A8K6K0|Q9P0E0	Silent	SNP	ENST00000391980.2	37	c.582T>C	CCDS2544.1																																																																																				0.463	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			23	26	0	0	0	1	0	23	26					G	242036781	A	G	242036781	2	3	21	1	0	0	0	0	0	0	0	1	9929	358	13	4		4	MTERFD2	2	242036781	Silent	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	228025	242036781	1162592	125	1550										
LMCD1	29995	broad.mit.edu	37	chr3	8579029	8579029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	catccggatttacaagaggaAccggatgatcatgaccaacc	9	11	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:8579029A>G	ENST00000157600.3	+	3	522	c.290A>G	c.(289-291)aAc>aGc	p.N97S	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Missense_Mutation_p.N97S|LMCD1_ENST00000454244.1_Missense_Mutation_p.N24S|LMCD1_ENST00000397386.3_Intron	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	97					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		TACAAGAGGAACCGGATGATC	0.537																																						ENST00000157600.3																			0				breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16						c.(289-291)aAc>aGc		LIM and cysteine-rich domains 1							142	147	146					3																	8579029		2203	4300	6503	SO:0001583	missense	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8579029A>G	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"dyxin"	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.290A>G	3.37:g.8579029A>G	ENSP00000157600:p.Asn97Ser		Somatic				LMCD1_ENST00000397386.3_Intron|LMCD1_ENST00000535732.1_Missense_Mutation_p.N97S|LMCD1_ENST00000454244.1_Missense_Mutation_p.N24S|LMCD1-AS1_ENST00000439407.1_RNA	p.N97S	NM_014583.2	NP_055398.1	WXS	Illumina GAIIx	Phase_I	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	3	522	+			97					B4DG80	Missense_Mutation	SNP	ENST00000157600.3	37	c.290A>G	CCDS33688.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443231	0.83993	.	.	ENSG00000071282	ENST00000157600;ENST00000415597;ENST00000535732;ENST00000454244;ENST00000426878	T;D;T;T;T	0.86497	0.82;-2.13;-1.15;0.73;-1.15	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.78637	2.42	0.80722	D	1	D;P	0.61697	0.99;0.952	P;P	0.57371	0.819;0.452	D	0.91406	0.5147	10	0.41790	T	0.15	-41.0706	14.8947	0.70636	1.0:0.0:0.0:0.0	.	97;97	F5GX84;Q9NZU5	.;LMCD1_HUMAN	S	97;103;97;24;54	ENSP00000157600:N97S;ENSP00000400555:N103S;ENSP00000441100:N97S;ENSP00000396515:N24S;ENSP00000411222:N54S	ENSP00000157600:N97S	N	+	2	0	LMCD1	8554029	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.819000	0.91997	2.194000	0.70268	0.533000	0.62120	AAC		0.537	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		110	128	0	0	0	1	0	110	128					G	8579029	A	G	8579029	3	3	21	1	0	0	0	0	1	0	0	0	8853	43	2	4	300	4	LMCD1	3	8579029	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08		8579029	189443401	126	1551										
NUP210	23225	broad.mit.edu	37	chr3	13399755	13399755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgctgcagcagcggacaggaCatgtccagctgggggctggt	17	10	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:13399755C>T	ENST00000254508.5	-	16	2377	c.2295G>A	c.(2293-2295)atG>atA	p.M765I		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	765					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)					GCGGACAGGACATGTCCAGCT	0.657																																						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.(2293-2295)atG>atA		nucleoporin 210kDa							84	81	82					3																	13399755		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.chr3:13399755C>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.2295G>A	3.37:g.13399755C>T	ENSP00000254508:p.Met765Ile		Somatic					p.M765I	NM_024923.2	NP_079199.2	WXS	Illumina GAIIx	Phase_I	Q8TEM1	PO210_HUMAN			16	2377	-	all_neural(104;0.187)		765					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.2295G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	9.246	1.039590	0.19669	.	.	ENSG00000132182	ENST00000254508	T	0.21361	2.01	5.26	1.38	0.22167	.	0.083209	0.50627	D	0.000115	T	0.07503	0.0189	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34204	-0.9838	10	0.23302	T	0.38	.	6.8152	0.23826	0.0:0.4017:0.3688:0.2295	.	765;765	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	I	765	ENSP00000254508:M765I	ENSP00000254508:M765I	M	-	3	0	NUP210	13374755	0.945000	0.32115	0.978000	0.43139	0.621000	0.37620	0.128000	0.15810	0.208000	0.20626	0.609000	0.83330	ATG		0.657	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		30	99	0	0	0	1	0	30	99					T	13399755	C	T	13399755	3	4	21	1	0	0	0	0	1	0	0	0	10769	478	17	3	3468	3	NUP210	3	13399755	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	4820726	13399755	184622675	127	1552										
CNOT10	25904	broad.mit.edu	37	chr3	32778914	32778914	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tattttagcagtaaaagccaTgatggagataaattcattcc	7	6	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:32778914T>C	ENST00000328834.5	+	13	1843	c.1527T>C	c.(1525-1527)caT>caC	p.H509H	CNOT10_ENST00000538368.1_Silent_p.H281H|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000454516.2_Silent_p.H569H|CNOT10_ENST00000331889.6_Intron	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	509				H -> Y (in Ref. 1; BAB14108). {ECO:0000305}.	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						GTAAAAGCCATGATGGAGATA	0.323																																						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.(1525-1527)caT>caC		CCR4-NOT transcription complex, subunit 10							64	62	63					3																	32778914		2203	4300	6503	SO:0001819	synonymous_variant	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32778914T>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.1527T>C	3.37:g.32778914T>C			Somatic				CNOT10_ENST00000331889.6_Intron|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000538368.1_Silent_p.H281H|CNOT10_ENST00000454516.2_Silent_p.H569H	p.H509H	NM_015442.2	NP_056257.1	WXS	Illumina GAIIx	Phase_I	Q9H9A5	CNOTA_HUMAN			13	1843	+			509	H -> Y (in Ref. 1; BAB14108).				B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Silent	SNP	ENST00000328834.5	37	c.1527T>C	CCDS2655.1																																																																																				0.323	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442		10	25	0	0	0	1	0	10	25					C	32778914	T	C	32778914	2	2	21	1	0	0	0	0	0	0	0	1	3620	1461	51	4		4	CNOT10	3	32778914	Silent	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	19379159	32778914	165243516	128	1553										
TRANK1	9881	broad.mit.edu	37	chr3	36873408	36873408	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgtccgctcagcctcacccgAgaccacatagtctatttcac	6	16	4	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:36873408A>G	ENST00000429976.2	-	21	7781	c.7534T>C	c.(7534-7536)Tcg>Ccg	p.S2512P	TRANK1_ENST00000301807.6_Missense_Mutation_p.S1962P|TRANK1_ENST00000428977.2_Missense_Mutation_p.S1962P	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2512							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						GCCTCACCCGAGACCACATAG	0.527																																						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.(7534-7536)Tcg>Ccg		tetratricopeptide repeat and ankyrin repeat containing 1							120	123	122					3																	36873408		2164	4274	6438	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36873408A>G	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7534T>C	3.37:g.36873408A>G	ENSP00000416168:p.Ser2512Pro		Somatic				TRANK1_ENST00000301807.6_Missense_Mutation_p.S1962P|TRANK1_ENST00000428977.2_Missense_Mutation_p.S1962P	p.S2512P			WXS	Illumina GAIIx	Phase_I	O15050	TRNK1_HUMAN			21	7781	-			2512					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.7534T>C	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	A	16.71	3.197744	0.58126	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.37584	1.19;1.6;1.19	4.9	4.9	0.64082	.	0.000000	0.47093	D	0.000241	T	0.59459	0.2195	M	0.69823	2.125	0.40569	D	0.98128	D	0.76494	0.999	D	0.83275	0.996	T	0.65763	-0.6089	10	0.87932	D	0	.	14.8348	0.70175	1.0:0.0:0.0:0.0	.	2512	O15050	TRNK1_HUMAN	P	1962;2512;1962	ENSP00000416826:S1962P;ENSP00000416168:S2512P;ENSP00000301807:S1962P	ENSP00000301807:S1962P	S	-	1	0	TRANK1	36848412	1.000000	0.71417	0.919000	0.36401	0.779000	0.44077	6.778000	0.75043	1.960000	0.56953	0.459000	0.35465	TCG		0.527	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		54	74	0	0	0	1	0	54	74					G	36873408	A	G	36873408	3	3	21	1	0	0	0	0	1	0	0	0	16469	304	11	4	1255	4	TRANK1	3	36873408	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	4094494	36873408	161149022	129	1554										
ITGA9	3680	broad.mit.edu	37	chr3	37544757	37544757	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggacaacacctatttaaaacTgaacgacgaagtgatcatga	8	8	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:37544757T>C	ENST00000264741.5	+	6	957	c.701T>C	c.(700-702)cTg>cCg	p.L234P	ITGA9_ENST00000422441.1_Missense_Mutation_p.L234P	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	234					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)		TATTTAAAACTGAACGACGAA	0.483																																						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.(700-702)cTg>cCg		integrin, alpha 9							121	108	113					3																	37544757		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37544757T>C	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.701T>C	3.37:g.37544757T>C	ENSP00000264741:p.Leu234Pro		Somatic				ITGA9_ENST00000422441.1_Missense_Mutation_p.L234P	p.L234P	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)	6	957	+			234					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.701T>C	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	T	9.411	1.080448	0.20309	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	T;T	0.45276	0.9;0.9	5.89	5.89	0.94794	.	0.068041	0.64402	D	0.000008	T	0.31575	0.0801	N	0.17922	0.545	0.80722	D	1	B;B	0.15141	0.007;0.012	B;B	0.18561	0.009;0.022	T	0.05750	-1.0866	10	0.34782	T	0.22	.	15.9773	0.80079	0.0:0.0:0.0:1.0	.	234;234	Q13797;E9PDS3	ITA9_HUMAN;.	P	234	ENSP00000397258:L234P;ENSP00000264741:L234P	ENSP00000264741:L234P	L	+	2	0	ITGA9	37519761	1.000000	0.71417	0.983000	0.44433	0.053000	0.15095	3.820000	0.55693	2.254000	0.74563	0.533000	0.62120	CTG		0.483	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		35	49	0	0	0	1	0	35	49					C	37544757	T	C	37544757	3	2	21	1	0	0	0	0	1	0	0	0	7892	1580	55	4	723	4	ITGA9	3	37544757	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	671349	37544757	160477673	130	1555										
MYD88	4615	broad.mit.edu	37	chr3	38182689	38182689	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaaagagttccccagcatccTgaggttcatcactgtctgcg	10	12	3	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:38182689T>C	ENST00000396334.3	+	5	1026	c.842T>C	c.(841-843)cTg>cCg	p.L281P	MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000495303.1_3'UTR|MYD88_ENST00000424893.1_Missense_Mutation_p.L236P|MYD88_ENST00000417037.2_Missense_Mutation_p.L289P|MYD88_ENST00000443433.2_3'UTR	NM_002468.4	NP_002459.2	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	268	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|establishment of endothelial intestinal barrier (GO:0090557)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to molecule of fungal origin (GO:0002238)|response to peptidoglycan (GO:0032494)|response to virus (GO:0009615)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|type I interferon biosynthetic process (GO:0045351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|TIR domain binding (GO:0070976)			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCAGCATCCTGAGGTTCATC	0.552			Mis		ABC-DLBCL																																	ENST00000417037.2				Dom	yes		3	3p22	4615	Mis	myeloid differentiation primary response gene (88)			L			ABC-DLBCL		0				breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237						c.(865-867)cTg>cCg		myeloid differentiation primary response 88							212	170	184					3																	38182689		2203	4300	6503	SO:0001583	missense	4615				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity	g.chr3:38182689T>C	U84408	CCDS2674.2, CCDS54565.1, CCDS54566.1, CCDS54567.1, CCDS54568.1	3p22	2014-09-17	2012-11-15		ENSG00000172936	ENSG00000172936			7562	protein-coding gene	gene with protein product		602170	"myeloid differentiation primary response gene (88)"			9013863	Standard	NM_002468		Approved		uc003chx.3	Q99836	OTTHUMG00000131083	ENST00000396334.3:c.842T>C	3.37:g.38182689T>C	ENSP00000379625:p.Leu281Pro		Somatic				MYD88_ENST00000443433.2_3'UTR|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000424893.1_Missense_Mutation_p.L236P|MYD88_ENST00000396334.3_Missense_Mutation_p.L281P|MYD88_ENST00000495303.1_3'UTR	p.L289P	NM_001172567.1	NP_001166038.1	WXS	Illumina GAIIx	Phase_I	Q99836	MYD88_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	5	1050	+			268			TIR.		B4DKH8|B4DKU4|B4DQ60|B4DQ72|J3KPU4|J3KQ87|J3KQJ6|P78397|Q53XS7	Missense_Mutation	SNP	ENST00000396334.3	37	c.866T>C	CCDS2674.2	.	.	.	.	.	.	.	.	.	.	T	26.1	4.700817	0.88924	.	.	ENSG00000172936	ENST00000417037;ENST00000396334;ENST00000424893;ENST00000421516;ENST00000415158	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	5.52	5.52	0.82312	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000001	T	0.37705	0.1013	M	0.91090	3.175	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	0.46830	-0.9163	10	0.87932	D	0	-18.3693	15.1365	0.72572	0.0:0.0:0.0:1.0	.	223;268;257	Q99836-2;Q99836;B4E3D6	.;MYD88_HUMAN;.	P	289;281;236;288;257	ENSP00000401399:L289P;ENSP00000379625:L281P;ENSP00000389979:L236P;ENSP00000391753:L288P	ENSP00000379625:L281P	L	+	2	0	MYD88	38157693	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.639000	0.83342	2.233000	0.73108	0.533000	0.62120	CTG		0.552	MYD88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253743.4	NM_002468		61	80	0	0	0	1	0	61	80					C	38182689	T	C	38182689	3	2	21	1	0	0	0	0	1	0	0	0	10032	1580	55	4	884	4	MYD88	3	38182689	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	637932	38182689	159839741	131	1556										
C3orf39	84892	broad.mit.edu	37	chr3	43122426	43122426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agcaggtcgtcatgaaagacGtgcatgaggttgtcggggtt	16	6	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:43122426G>A	ENST00000344697.2	-	2	843	c.498C>T	c.(496-498)caC>caT	p.H166H	POMGNT2_ENST00000441964.1_Silent_p.H166H	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	166					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										CATGAAAGACGTGCATGAGGT	0.642																																						ENST00000344697.2																			0											c.(496-498)caC>caT									98	80	86					3																	43122426		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr3:43122426G>A	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"chromosome 3 open reading frame 39", "glycosyltransferase-like domain containing 2"	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.498C>T	3.37:g.43122426G>A			Somatic				GTDC2_ENST00000441964.1_Silent_p.H166H	p.H166H	NM_032806.4	NP_116195.2	WXS	Illumina GAIIx	Phase_I					2	843	-								B3KWC3|Q96SY3	Silent	SNP	ENST00000344697.2	37	c.498C>T	CCDS2709.1																																																																																				0.642	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		42	62	0	0	0	1	0	42	62					A	43122426	G	A	43122426	2	1	21	1	0	0	0	0	0	0	0	1	2231	1136	40	1		1	C3orf39	3	43122426	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	4939737	43122426	154900004	132	1557										
LZTFL1	54585	broad.mit.edu	37	chr3	45879420	45879420	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tagagtcctcctctgataccTgctctccttgaggtcttgga	9	12	3	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:45879420T>C	ENST00000296135.6	-	2	301	c.127A>G	c.(127-129)Agg>Ggg	p.R43G	LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Splice_Site_p.R26G|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	43					establishment of protein localization to organelle (GO:0072594)	BBSome (GO:0034464)|cytoplasm (GO:0005737)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CTCTGATACCTGCTCTCCTTG	0.438																																						ENST00000296135.6																			0				endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.e2+1		leucine zipper transcription factor-like 1							69	70	70					3																	45879420		2203	4300	6503	SO:0001630	splice_region_variant	54585							g.chr3:45879420T>C	AJ297351	CCDS2731.1, CCDS63608.1, CCDS63609.1	3p21.3	2014-01-28			ENSG00000163818	ENSG00000163818			6741	protein-coding gene	gene with protein product		606568				11352561, 22510444	Standard	NM_020347		Approved	BBS17	uc003cox.2	Q9NQ48	OTTHUMG00000133452	ENST00000296135.6:c.128+1A>G	3.37:g.45879420T>C			Somatic				LZTFL1_ENST00000536047.1_Splice_Site_p.R26_splice|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000490463.1_5'UTR	p.R43_splice	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	WXS	Illumina GAIIx	Phase_I	Q9NQ48	LZTL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)	2	301	-			43					B3KSI9|B4E0K7|Q8TC61|Q9NQ56	Splice_Site	SNP	ENST00000296135.6	37	c.128_splice	CCDS2731.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.557791	0.86231	.	.	ENSG00000163818	ENST00000296135;ENST00000536047;ENST00000445698	T;T;T	0.31510	1.49;1.49;1.49	5.49	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.57095	0.2030	M	0.84433	2.695	0.80722	D	1	D	0.65815	0.995	D	0.66847	0.947	T	0.62959	-0.6743	10	0.72032	D	0.01	-21.1324	12.6047	0.56516	0.0:0.0:0.1387:0.8613	.	43	Q9NQ48	LZTL1_HUMAN	G	43;26;26	ENSP00000296135:R43G;ENSP00000439522:R26G;ENSP00000412240:R26G	ENSP00000296135:R43G	R	-	1	2	LZTFL1	45854424	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.482000	0.81143	0.885000	0.36088	0.533000	0.62120	AGG		0.438	LZTFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257326.3	NM_020347	Missense_Mutation	37	45	0	0	0	1	0	37	45					C	45879420	T	C	45879420	5	2	21	1	0	0	0	0	0	0	1	0	9145	1594	55	4	808	4	LZTFL1	3	45879420	Splice_Site	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2756994	45879420	152143010	133	1558										
CELSR3	1951	broad.mit.edu	37	chr3	48686273	48686273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cttggctaaaatagtggtcaGtgtggccagtcacctcccgt	11	11	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:48686273G>A	ENST00000164024.4	-	18	6936	c.6656C>T	c.(6655-6657)aCt>aTt	p.T2219I	CELSR3_ENST00000544264.1_Missense_Mutation_p.T2224I	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2219					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATAGTGGTCAGTGTGGCCAGT	0.597																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(6670-6672)aCt>aTt		cadherin, EGF LAG seven-pass G-type receptor 3							78	66	70					3																	48686273		2203	4299	6502	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48686273G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.6656C>T	3.37:g.48686273G>A	ENSP00000164024:p.Thr2219Ile		Somatic				CELSR3_ENST00000164024.4_Missense_Mutation_p.T2219I	p.T2224I			WXS	Illumina GAIIx	Phase_I	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	19	6951	-			2219					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.6671C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032278	0.54790	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.10192	2.9;2.9	5.34	2.43	0.29744	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.14787	0.0357	M	0.73217	2.22	0.33806	D	0.627286	B;B	0.27910	0.096;0.193	B;B	0.37943	0.261;0.241	T	0.14727	-1.0462	9	0.59425	D	0.04	.	2.6947	0.05130	0.2114:0.0:0.3479:0.4407	.	2219;2289	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	I	2219;2224	ENSP00000164024:T2219I;ENSP00000445694:T2224I	ENSP00000164024:T2219I	T	-	2	0	CELSR3	48661277	1.000000	0.71417	0.123000	0.21794	0.984000	0.73092	3.941000	0.56607	0.561000	0.29186	0.655000	0.94253	ACT		0.597	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		39	43	0	0	0	1	0	39	43					A	48686273	G	A	48686273	3	1	21	1	0	0	0	0	1	0	0	0	3225	1029	36	3	3354	3	CELSR3	3	48686273	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2806853	48686273	149336157	134	1559										
PRKAR2A	5576	broad.mit.edu	37	chr3	48802450	48802450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cactcacctgagtgattatgCgttctccatccttatagatc	6	12	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:48802450C>T	ENST00000265563.8	-	8	1109	c.860G>A	c.(859-861)cGc>cAc	p.R287H	PRKAR2A_ENST00000296446.8_Missense_Mutation_p.R287H|PRKAR2A_ENST00000454963.1_Missense_Mutation_p.R287H	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	287					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		AGTGATTATGCGTTCTCCATC	0.408																																						ENST00000265563.8																		SLC26A6/PRKAR2A(2)	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6						c.(859-861)cGc>cAc		protein kinase, cAMP-dependent, regulatory, type II, alpha							122	109	114					3																	48802450		2203	4300	6503	SO:0001583	missense	5576				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|membrane fraction	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr3:48802450C>T		CCDS2778.1	3p21.3-p21.2	2009-07-10			ENSG00000114302	ENSG00000114302	2.7.11.1		9391	protein-coding gene	gene with protein product		176910		PRKAR2		9676433	Standard	NM_004157		Approved		uc003cux.1	P13861	OTTHUMG00000133540	ENST00000265563.8:c.860G>A	3.37:g.48802450C>T	ENSP00000265563:p.Arg287His		Somatic				PRKAR2A_ENST00000296446.8_Missense_Mutation_p.R287H|PRKAR2A_ENST00000454963.1_Missense_Mutation_p.R287H	p.R287H	NM_004157.2	NP_004148.1	WXS	Illumina GAIIx	Phase_I	P13861	KAP2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)	8	1109	-			287					Q16823|Q9BUB1	Missense_Mutation	SNP	ENST00000265563.8	37	c.860G>A	CCDS2778.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448723	0.63178	.	.	ENSG00000114302	ENST00000265563;ENST00000454963;ENST00000296446	D;D;T	0.92595	-3.07;-3.07;0.98	4.8	3.91	0.45181	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.060923	0.64402	D	0.000002	D	0.90889	0.7137	L	0.43923	1.385	0.80722	D	1	D;B	0.60160	0.987;0.175	P;B	0.54401	0.751;0.076	D	0.87308	0.2310	10	0.14656	T	0.56	4.232	13.4504	0.61167	0.0:0.9229:0.0:0.0771	.	287;287	Q9BUB1;P13861	.;KAP2_HUMAN	H	287	ENSP00000265563:R287H;ENSP00000394041:R287H;ENSP00000296446:R287H	ENSP00000265563:R287H	R	-	2	0	PRKAR2A	48777454	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.856000	0.48341	2.518000	0.84900	0.563000	0.77884	CGC		0.408	PRKAR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257518.1			12	22	0	0	0	1	0	12	22					T	48802450	C	T	48802450	3	4	21	1	0	0	0	0	1	0	0	0	12517	768	27	1	370	1	PRKAR2A	3	48802450	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	116177	48802450	149219980	135	1560										
MST1	327	broad.mit.edu	37	chr3	49723549	49723549	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctggtagcaaaaggccgcgcGcatgccgggccgcagtgtga	16	12	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:49723549G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.R365C|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGGCCGCGCGCATGCCGGGC	0.672																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1093-1095)Cgc>Tgc		macrophage stimulating 1 (hepatocyte growth factor-like)							13	16	15					3																	49723549		2196	4288	6484	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723549G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723549G>A			Somatic				MST1_ENST00000383728.3_3'UTR	p.R365C	NM_020998.3	NP_066278.3	WXS	Illumina GAIIx	Phase_I	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1454	-			351					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1093C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641249	0.87859	.	.	ENSG00000173531	ENST00000449682	T	0.68765	-0.35	5.4	5.4	0.78164	.	0.000000	0.43110	D	0.000608	D	0.85974	0.5822	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.89392	0.3689	10	0.87932	D	0	.	13.7245	0.62750	0.0:0.0:0.8457:0.1543	.	365	G3XAK1	.	C	365	ENSP00000414287:R365C	ENSP00000414287:R365C	R	-	1	0	MST1	49698553	1.000000	0.71417	0.991000	0.47740	0.889000	0.51656	5.074000	0.64401	2.526000	0.85167	0.655000	0.94253	CGC		0.672	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			17	15	0	0	0	1	0	17	15					A	49723549	G	A	49723549	1	1	21	0	1	0	0	0	0	0	0	0	9899	1087	38	1		1	MST1	3	49723549	IGR	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	921099	49723549	148298881	136	1561										
SEMA3B	7869	broad.mit.edu	37	chr3	50311871	50311871	+	RNA	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atccagtttgcgcggaaccaCcccctcatgtacaactctgt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:50311871delC	ENST00000418948.1	+	0	1449							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGCGGAACCACCCCCTCATGT	0.587											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418948.1																			0				central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6								sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B							113	116	115					3																	50311871		1954	4145	6099			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50311871delC	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50311871delC			Somatic	OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968					WXS	Illumina GAIIx	Phase_I	Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	0	1449	+								Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	DEL	ENST00000418948.1	37																																																																																						0.587	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2	NM_001005914		97	120						97	120	---	---	---	---	-	50311871	C	-	50311871	6	5	21	0	1	1	0	1	0	0	0	0	14040	506	18	0		0	SEMA3B	3	50311871	RNA	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	588322	50311871	147710559	137	1562										
COL8A1	1295	broad.mit.edu	37	chr3	99513775	99513775	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gactgccagggctaccaggaCccccaggccttccagggatt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:99513775delC	ENST00000261037.3	+	5	1410	c.1030delC	c.(1030-1032)cccfs	p.P345fs	COL8A1_ENST00000273342.4_Frame_Shift_Del_p.P345fs	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	345	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GCTACCAGGACCCCCAGGCCT	0.622																																						ENST00000261037.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						c.(1030-1032)ccfs		collagen, type VIII, alpha 1							27	32	30					3																	99513775		2203	4299	6502	SO:0001589	frameshift_variant	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99513775delC	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1030delC	3.37:g.99513775delC	ENSP00000261037:p.Pro345fs		Somatic				COL8A1_ENST00000273342.4_Frame_Shift_Del_p.P345fs	p.P345fs	NM_001850.4	NP_001841.2	WXS	Illumina GAIIx	Phase_I	P27658	CO8A1_HUMAN			5	1410	+			345			Triple-helical region (COL1).		D3DN42|Q53XI6|Q96D07	Frame_Shift_Del	DEL	ENST00000261037.3	37	c.1030delC	CCDS2934.1																																																																																				0.622	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		23	36						23	36	---	---	---	---	-	99513775	C	-	99513775	7	5	21	1	0	1	0	1	0	0	0	0	3707	507	18	0	1036	0	COL8A1	3	99513775	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	49201904	99513775	98508655	138	1563										
MORC1	27136	broad.mit.edu	37	chr3	108812302	108812302	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctcctccagagctccagccaTcagtatatcttctttgtcag	6	14	4	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:108812302T>C	ENST00000483760.1	-	8	713	c.670A>G	c.(670-672)Atg>Gtg	p.M224V	MORC1_ENST00000232603.5_Missense_Mutation_p.M224V					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						GCTCCAGCCATCAGTATATCT	0.423																																						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.(670-672)Atg>Gtg		MORC family CW-type zinc finger 1							159	142	147					3																	108812302		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108812302T>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.670A>G	3.37:g.108812302T>C	ENSP00000417282:p.Met224Val		Somatic				MORC1_ENST00000483760.1_Missense_Mutation_p.M224V	p.M224V	NM_014429.3	NP_055244.3	WXS	Illumina GAIIx	Phase_I	Q86VD1	MORC1_HUMAN			8	752	-			224						Missense_Mutation	SNP	ENST00000483760.1	37	c.670A>G		.	.	.	.	.	.	.	.	.	.	T	4.302	0.055262	0.08291	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.72725	-0.68;-0.68	4.75	1.05	0.20165	ATPase-like, ATP-binding domain (1);	0.695782	0.13420	N	0.389276	T	0.55369	0.1916	L	0.39326	1.205	0.24650	N	0.993528	B;B	0.06786	0.001;0.001	B;B	0.10450	0.001;0.005	T	0.42189	-0.9466	10	0.36615	T	0.2	-5.0E-4	3.9852	0.09513	0.1546:0.1751:0.0:0.6703	.	224;224	E7ERX1;Q86VD1	.;MORC1_HUMAN	V	224	ENSP00000232603:M224V;ENSP00000417282:M224V	ENSP00000232603:M224V	M	-	1	0	MORC1	110294992	1.000000	0.71417	0.458000	0.27068	0.342000	0.28953	1.491000	0.35583	0.033000	0.15463	0.528000	0.53228	ATG		0.423	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			22	31	0	0	0	1	0	22	31					C	108812302	T	C	108812302	3	2	21	1	0	0	0	0	1	0	0	0	9710	1435	50	4	2368	4	MORC1	3	108812302	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	9298527	108812302	89210128	139	1564										
CCDC80	151887	broad.mit.edu	37	chr3	112357095	112357095	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctgcgttctcattcttcatcTtttttttcttctccttctct							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:112357095delT	ENST00000206423.3	-	2	2611	c.1658delA	c.(1657-1659)aagfs	p.K553fs	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Frame_Shift_Del_p.K553fs	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	553	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						attcttcatcttttttttctt	0.398																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(1657-1659)agfs		coiled-coil domain containing 80							107	91	96					3																	112357095		2203	4300	6503	SO:0001589	frameshift_variant	151887							g.chr3:112357095delT	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1658delA	3.37:g.112357095delT	ENSP00000206423:p.Lys553fs		Somatic				CCDC80_ENST00000439685.2_Frame_Shift_Del_p.K553fs	p.K553fs	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	WXS	Illumina GAIIx	Phase_I	Q76M96	CCD80_HUMAN			2	2611	-			553			Lys-rich.		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Frame_Shift_Del	DEL	ENST00000206423.3	37	c.1658delA	CCDS2968.1																																																																																				0.398	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		12	29						12	29	---	---	---	---	-	112357095	T	-	112357095	7	5	21	1	0	1	0	1	0	0	0	0	2856	1609	56	0	1222	0	CCDC80	3	112357095	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	3544793	112357095	85665335	140	1565										
BOC	91653	broad.mit.edu	37	chr3	112998226	112998226	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gagtacaagaagctaaagaaAgtgggagactggattctggc	14	5	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:112998226A>C	ENST00000495514.1	+	12	2648	c.1944A>C	c.(1942-1944)aaA>aaC	p.K648N	BOC_ENST00000273395.4_Missense_Mutation_p.K649N|BOC_ENST00000355385.3_Missense_Mutation_p.K648N			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	648	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGCTAAAGAAAGTGGGAGACT	0.612																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1942-1944)aaA>aaC		BOC cell adhesion associated, oncogene regulated							71	76	74					3																	112998226		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112998226A>C	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1944A>C	3.37:g.112998226A>C	ENSP00000418663:p.Lys648Asn		Somatic				BOC_ENST00000273395.4_Missense_Mutation_p.K649N|BOC_ENST00000355385.3_Missense_Mutation_p.K648N	p.K648N			WXS	Illumina GAIIx	Phase_I	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		12	2648	+			648			Fibronectin type-III 2.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.1944A>C	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.225301	0.79576	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.57595	0.39;0.39;0.39	5.55	1.96	0.26148	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.164731	0.53938	D	0.000054	T	0.52549	0.1741	L	0.28740	0.885	0.37956	D	0.932826	D;D	0.61080	0.986;0.989	D;D	0.67548	0.92;0.952	T	0.51687	-0.8674	10	0.37606	T	0.19	.	6.7961	0.23727	0.5222:0.0:0.4778:0.0	.	649;648	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	N	648;649;648	ENSP00000418663:K648N;ENSP00000273395:K649N;ENSP00000347546:K648N	ENSP00000273395:K649N	K	+	3	2	BOC	114480916	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.955000	0.56715	0.403000	0.25479	0.460000	0.39030	AAA		0.612	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		33	54	0	0	0	1	0	33	54					C	112998226	A	C	112998226	3	2	21	1	0	0	0	0	1	0	0	0	1481	69	3	4	1982	4	BOC	3	112998226	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	641131	112998226	85024204	141	1566										
POLQ	10721	broad.mit.edu	37	chr3	121190985	121190985	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atcaagcctggtaaaggatgTaatgcctttaatttatttaa	7	5	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:121190985T>C	ENST00000264233.5	-	22	6698	c.6570A>G	c.(6568-6570)ttA>ttG	p.L2190L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2190					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)		GTAAAGGATGTAATGCCTTTA	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.(6568-6570)ttA>ttG	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							54	56	55					3																	121190985		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.chr3:121190985T>C	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.6570A>G	3.37:g.121190985T>C			Somatic					p.L2190L	NM_199420.3	NP_955452.3	WXS	Illumina GAIIx	Phase_I	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	22	6698	-			2190					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.6570A>G	CCDS33833.1																																																																																				0.348	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		15	27	0	0	0	1	0	15	27					C	121190985	T	C	121190985	2	2	21	1	0	0	0	0	0	0	0	1	12217	1635	57	4		4	POLQ	3	121190985	Silent	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	8192759	121190985	76831445	142	1567										
HCLS1	3059	broad.mit.edu	37	chr3	121351302	121351302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctcatagtcattctcaggctCgggctcaggctcgggctcag	12	13	5	0	rs149387044		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:121351302C>T	ENST00000314583.3	-	12	1208	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	HCLS1_ENST00000428394.2_Missense_Mutation_p.E336K|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	373					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TTctcaggctcgggctcaggc	0.607																																						ENST00000314583.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1117-1119)Gag>Aag		hematopoietic cell-specific Lyn substrate 1		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	170	162	165		1117	4.4	0.9	3	dbSNP_134	165	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HCLS1	NM_005335.4	56	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	373/487	121351302	2,13004	2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121351302C>T		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"cortactin-like"	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1117G>A	3.37:g.121351302C>T	ENSP00000320176:p.Glu373Lys		Somatic				HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.E336K	p.E373K	NM_005335.4	NP_005326.2	WXS	Illumina GAIIx	Phase_I	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	12	1208	-			373					B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.1117G>A	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099248	0.37048	2.27E-4	1.16E-4	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.21191	2.03;2.02	5.28	4.41	0.53225	.	0.785420	0.12768	N	0.440772	T	0.18718	0.0449	L	0.48642	1.525	0.37242	D	0.906143	B;B	0.17268	0.021;0.021	B;B	0.06405	0.002;0.002	T	0.06716	-1.0811	10	0.22706	T	0.39	-20.4635	9.7319	0.40366	0.0:0.9072:0.0:0.0928	.	336;373	E7EVW7;P14317	.;HCLS1_HUMAN	K	373;336	ENSP00000320176:E373K;ENSP00000387645:E336K	ENSP00000320176:E373K	E	-	1	0	HCLS1	122833992	0.780000	0.28664	0.885000	0.34714	0.364000	0.29643	1.470000	0.35354	1.478000	0.48253	0.655000	0.94253	GAG		0.607	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		102	144	0	0	0	1	0	102	144					T	121351302	C	T	121351302	3	4	21	1	0	0	0	0	1	0	0	0	7004	893	31	1	355	1	HCLS1	3	121351302	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	160317	121351302	76671128	143	1568										
DTX3L	151636	broad.mit.edu	37	chr3	122289431	122289431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	accaaaagctgatttttacaGtggggtactctcgcgtatta	9	8	1	1	rs142707005		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:122289431G>A	ENST00000296161.4	+	4	2254	c.2065G>A	c.(2065-2067)Gtg>Atg	p.V689M	DTX3L_ENST00000383661.3_Missense_Mutation_p.V177M	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	689					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)		GATTTTTACAGTGGGGTACTC	0.433																																						ENST00000296161.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(2065-2067)Gtg>Atg		deltex 3-like (Drosophila)		G	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	122	124	123		2065	4.1	1	3	dbSNP_134	123	0,8600		0,0,4300	no	missense	DTX3L	NM_138287.3	21	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	689/741	122289431	2,13004	2203	4300	6503	SO:0001583	missense	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122289431G>A		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.2065G>A	3.37:g.122289431G>A	ENSP00000296161:p.Val689Met		Somatic				DTX3L_ENST00000383661.3_Missense_Mutation_p.V177M	p.V689M	NM_138287.3	NP_612144.1	WXS	Illumina GAIIx	Phase_I	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	4	2254	+			689					B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	c.2065G>A	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346780	0.41599	4.54E-4	0.0	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.50001	0.76;0.76	4.97	4.08	0.47627	.	0.164825	0.29459	N	0.012093	T	0.72439	0.3460	M	0.92317	3.295	0.33430	D	0.58099	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.82178	-0.0586	10	0.87932	D	0	-31.0986	9.0505	0.36374	0.1717:0.0:0.8283:0.0	.	177;689	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	M	689;177	ENSP00000296161:V689M;ENSP00000373157:V177M	ENSP00000296161:V689M	V	+	1	0	DTX3L	123772121	0.807000	0.29009	1.000000	0.80357	0.153000	0.21895	1.119000	0.31258	1.288000	0.44600	0.561000	0.74099	GTG		0.433	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		34	57	0	0	0	1	0	34	57					A	122289431	G	A	122289431	3	1	21	1	0	0	0	0	1	0	0	0	4798	1029	36	3	2079	3	DTX3L	3	122289431	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	938129	122289431	75732999	144	1569										
MYLK	4638	broad.mit.edu	37	chr3	123348433	123348433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggtaacgttggccaaggtttCgttatcgttgtctcccatga	11	9	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:123348433C>T	ENST00000475616.1	-	27	5001	c.5002G>A	c.(5002-5004)Gaa>Aaa	p.E1668K	MYLK_ENST00000354792.5_Missense_Mutation_p.E468K|MYLK_ENST00000360772.3_Intron|MYLK_ENST00000359169.1_Intron|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.E1668K|MYLK_ENST00000346322.5_Missense_Mutation_p.E1599K			Q15746	MYLK_HUMAN	myosin light chain kinase	1668	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		GCCAAGGTTTCGTTATCGTTG	0.557																																						ENST00000360304.3																			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.(5002-5004)Gaa>Aaa		myosin light chain kinase							175	146	156					3																	123348433		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.chr3:123348433C>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.5002G>A	3.37:g.123348433C>T	ENSP00000418335:p.Glu1668Lys		Somatic				MYLK_ENST00000359169.1_Intron|MYLK_ENST00000360772.3_Intron|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.E468K|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.E1599K|MYLK_ENST00000475616.1_Missense_Mutation_p.E1668K|MYLK-AS1_ENST00000470449.1_RNA	p.E1668K	NM_053025.3	NP_444253.3	WXS	Illumina GAIIx	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	30	5283	-		Lung NSC(201;0.0496)	1668			Protein kinase.		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.5002G>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	37	6.071502	0.97256	.	.	ENSG00000065534	ENST00000360304;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.65	5.65	0.86999	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	0.76681	0.4021	L	0.49571	1.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.99;0.997	T	0.76812	-0.2821	9	0.87932	D	0	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	1668;1599;1668	Q15746-6;Q15746-2;Q15746	.;.;MYLK_HUMAN	K	1668;1599;468;1668	ENSP00000353452:E1668K;ENSP00000320622:E1599K;ENSP00000346846:E468K;ENSP00000418335:E1668K	ENSP00000320622:E1599K	E	-	1	0	MYLK	124831123	1.000000	0.71417	0.972000	0.41901	0.957000	0.61999	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	GAA		0.557	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		38	35	0	0	0	1	0	38	35					T	123348433	C	T	123348433	3	4	21	1	0	0	0	0	1	0	0	0	10065	893	31	1	762	1	MYLK	3	123348433	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1059002	123348433	74673997	145	1570										
MYLK	4638	broad.mit.edu	37	chr3	123419539	123419539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttgccgctgcaggttggcacGgaaatccatctgctcggctg	13	12	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:123419539G>A	ENST00000475616.1	-	15	2775	c.2776C>T	c.(2776-2778)Cgt>Tgt	p.R926C	MYLK_ENST00000360772.3_Missense_Mutation_p.R926C|MYLK_ENST00000359169.1_Missense_Mutation_p.R926C|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360304.3_Missense_Mutation_p.R926C|MYLK_ENST00000346322.5_Missense_Mutation_p.R857C			Q15746	MYLK_HUMAN	myosin light chain kinase	926	5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive). {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)		AGGTTGGCACGGAAATCCATC	0.572																																						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.(2776-2778)Cgt>Tgt		myosin light chain kinase							84	72	76					3																	123419539		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.chr3:123419539G>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.2776C>T	3.37:g.123419539G>A	ENSP00000418335:p.Arg926Cys		Somatic				MYLK_ENST00000359169.1_Missense_Mutation_p.R926C|MYLK_ENST00000360304.3_Missense_Mutation_p.R926C|MYLK_ENST00000346322.5_Missense_Mutation_p.R857C|MYLK_ENST00000475616.1_Missense_Mutation_p.R926C	p.R926C			WXS	Illumina GAIIx	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	3154	-		Lung NSC(201;0.0496)	926			5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (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.2776C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918075	0.73098	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.73789	-0.78;-0.67;-0.78;-0.7;-0.67	4.99	4.99	0.66335	.	.	.	.	.	D	0.86723	0.6001	M	0.79123	2.44	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	0.83275	0.996;0.97;0.993;0.996;0.993;0.991	D	0.88485	0.3071	9	0.72032	D	0.01	.	18.2631	0.90043	0.0:0.0:1.0:0.0	.	926;4;857;926;857;926	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	C	926;926;926;857;926	ENSP00000354004:R926C;ENSP00000353452:R926C;ENSP00000352088:R926C;ENSP00000320622:R857C;ENSP00000418335:R926C	ENSP00000320622:R857C	R	-	1	0	MYLK	124902229	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.681000	0.61663	2.318000	0.78349	0.561000	0.74099	CGT		0.572	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		37	54	0	0	0	1	0	37	54					A	123419539	G	A	123419539	3	1	21	1	0	0	0	0	1	0	0	0	10065	1116	39	1	3036	1	MYLK	3	123419539	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	71106	123419539	74602891	146	1571										
MCM2	4171	broad.mit.edu	37	chr3	127323896	127323896	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gagtgggtgagcatggcgggCccccggctggagatccacca							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:127323896delC	ENST00000265056.7	+	4	814	c.570delC	c.(568-570)ggcfs	p.G190fs		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	190	Interaction with KAT7. {ECO:0000250}.				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						GCATGGCGGGCCCCCGGCTGG	0.622																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(568-570)ggfs		minichromosome maintenance complex component 2							71	73	72					3																	127323896		2203	4300	6503	SO:0001589	frameshift_variant	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127323896delC	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.570delC	3.37:g.127323896delC	ENSP00000265056:p.Gly190fs		Somatic					p.G190fs	NM_004526.2	NP_004517.2	WXS	Illumina GAIIx	Phase_I	P49736	MCM2_HUMAN			4	814	+			190			Interaction with MYST2 (By similarity).		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Frame_Shift_Del	DEL	ENST00000265056.7	37	c.570delC	CCDS3043.1																																																																																				0.622	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			38	97						38	97	---	---	---	---	-	127323896	C	-	127323896	7	5	21	1	0	1	0	1	0	0	0	0	9395	726	26	0	584	0	MCM2	3	127323896	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3904357	127323896	70698534	147	1572										
MCM2	4171	broad.mit.edu	37	chr3	127335929	127335929	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gggccctggttctggctgacCgaggagtgtgtctcattgat	15	9	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:127335929C>T	ENST00000265056.7	+	10	1985	c.1741C>T	c.(1741-1743)Cga>Tga	p.R581*		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	581	MCM.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						TCTGGCTGACCGAGGAGTGTG	0.647																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(1741-1743)Cga>Tga		minichromosome maintenance complex component 2							80	87	84					3																	127335929		2203	4300	6503	SO:0001587	stop_gained	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.chr3:127335929C>T	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1741C>T	3.37:g.127335929C>T	ENSP00000265056:p.Arg581*		Somatic					p.R581*	NM_004526.2	NP_004517.2	WXS	Illumina GAIIx	Phase_I	P49736	MCM2_HUMAN			10	1985	+			581			MCM.		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Nonsense_Mutation	SNP	ENST00000265056.7	37	c.1741C>T	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	42	9.258494	0.99117	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	.	.	.	5.91	5.01	0.66863	.	0.165521	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-8.495	13.1717	0.59602	0.4364:0.5636:0.0:0.0	.	.	.	.	X	581;485;631	.	ENSP00000265056:R581X	R	+	1	2	MCM2	128818619	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.921000	0.40035	1.456000	0.47831	0.655000	0.94253	CGA		0.647	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			82	98	0	0	0	1	0	82	98					T	127335929	C	T	127335929	4	4	21	1	0	0	0	0	0	1	0	0	9395	644	23	1	1779	1	MCM2	3	127335929	Nonsense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	12033	127335929	70686501	148	1573										
DNAJB8	165721	broad.mit.edu	37	chr3	128181453	128181453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtcaccgacttgagctgcccGtcttcctccacctccacgcg	8	19	2	1	rs374525334		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:128181453G>A	ENST00000469083.1	-	2	3193	c.636C>T	c.(634-636)gaC>gaT	p.D212D	DNAJB8_ENST00000319153.3_Silent_p.D212D|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	212					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)		TGAGCTGCCCGTCTTCCTCCA	0.612																																						ENST00000469083.1																			0				kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11						c.(634-636)gaC>gaT		DnaJ (Hsp40) homolog, subfamily B, member 8		G		0,4406		0,0,2203	172	137	149		636	-3.1	0.9	3		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAJB8	NM_153330.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		212/233	128181453	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181453G>A		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"Heat shock proteins / DNAJ (HSP40)"	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.636C>T	3.37:g.128181453G>A			Somatic				DNAJB8_ENST00000319153.3_Silent_p.D212D	p.D212D			WXS	Illumina GAIIx	Phase_I	Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	2	3193	-			212					B3KWV7	Silent	SNP	ENST00000469083.1	37	c.636C>T	CCDS3048.1																																																																																				0.612	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		90	100	0	0	0	1	0	90	100					A	128181453	G	A	128181453	2	1	21	1	0	0	0	0	0	0	0	1	4628	1136	40	1		1	DNAJB8	3	128181453	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	845524	128181453	69840977	149	1574										
IFT122	55764	broad.mit.edu	37	chr3	129207227	129207227	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gctagaaggtttagattttgAaacagcaaagaaggtaagca							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:129207227delA	ENST00000348417.2	+	16	2056	c.1979delA	c.(1978-1980)gaafs	p.E660fs	IFT122_ENST00000349441.2_Frame_Shift_Del_p.E549fs|IFT122_ENST00000504021.1_Frame_Shift_Del_p.E554fs|IFT122_ENST00000431818.2_Frame_Shift_Del_p.E510fs|IFT122_ENST00000507564.1_Frame_Shift_Del_p.E652fs|IFT122_ENST00000296266.3_Frame_Shift_Del_p.E711fs|IFT122_ENST00000347300.2_Frame_Shift_Del_p.E601fs|IFT122_ENST00000440957.2_Frame_Shift_Del_p.E451fs	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	660					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						TTAGATTTTGAAACAGCAAAG	0.522																																						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.(2131-2133)gafs		intraflagellar transport 122 homolog (Chlamydomonas)							63	60	61					3																	129207227		2203	4300	6503	SO:0001589	frameshift_variant	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.chr3:129207227delA	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.1979delA	3.37:g.129207227delA	ENSP00000324005:p.Glu660fs		Somatic				IFT122_ENST00000431818.2_Frame_Shift_Del_p.E510fs|IFT122_ENST00000440957.2_Frame_Shift_Del_p.E451fs|IFT122_ENST00000349441.2_Frame_Shift_Del_p.E549fs|IFT122_ENST00000348417.2_Frame_Shift_Del_p.E660fs|IFT122_ENST00000347300.2_Frame_Shift_Del_p.E601fs|IFT122_ENST00000504021.1_Frame_Shift_Del_p.E554fs|IFT122_ENST00000507564.1_Frame_Shift_Del_p.E652fs	p.E711fs	NM_052985.2	NP_443711.2	WXS	Illumina GAIIx	Phase_I	Q9HBG6	IF122_HUMAN			17	2324	+			660					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Frame_Shift_Del	DEL	ENST00000348417.2	37	c.2132delA	CCDS3061.1																																																																																				0.522	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		29	48						29	48	---	---	---	---	-	129207227	A	-	129207227	7	5	21	1	0	1	0	1	0	0	0	0	7564	246	9	0	2198	0	IFT122	3	129207227	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	1025774	129207227	68815203	150	1575										
ASTE1	28990	broad.mit.edu	37	chr3	130743461	130743461	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cttaagaatgtctccatgatGggtagattaacatggtcatt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:130743461delG	ENST00000264992.3	-	3	1131	c.690delC	c.(688-690)cccfs	p.P230fs	NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000412440.2_5'Flank|ASTE1_ENST00000514044.1_Frame_Shift_Del_p.P230fs	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	230					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						TCTCCATGATGGGTAGATTAA	0.448																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(688-690)ccfs		asteroid homolog 1 (Drosophila)							104	96	99					3																	130743461		2203	4300	6503	SO:0001589	frameshift_variant	28990				DNA repair		nuclease activity	g.chr3:130743461delG	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.690delC	3.37:g.130743461delG	ENSP00000264992:p.Pro230fs		Somatic				ASTE1_ENST00000514044.1_Frame_Shift_Del_p.P230fs	p.P230fs	NM_014065.2	NP_054784.2	WXS	Illumina GAIIx	Phase_I	Q2TB18	ASTE1_HUMAN			3	1131	-			230					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Frame_Shift_Del	DEL	ENST00000264992.3	37	c.690delC	CCDS3068.1																																																																																				0.448	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		28	92						28	92	---	---	---	---	-	130743461	G	-	130743461	7	5	21	1	0	1	0	1	0	0	0	0	1062	1335	47	0	1365	0	ASTE1	3	130743461	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1536234	130743461	67278969	151	1576										
GRK7	131890	broad.mit.edu	37	chr3	141499234	141499234	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggtatgtgccgtccaggtgAaaaacactgggaagatgtat							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:141499234delA	ENST00000264952.2	+	2	768	c.631delA	c.(631-633)aaafs	p.K211fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CGTCCAGGTGAAAAACACTGG	0.458																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(631-633)aafs		G protein-coupled receptor kinase 7							54	55	54					3																	141499234		2203	4300	6503	SO:0001589	frameshift_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141499234delA		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.631delA	3.37:g.141499234delA	ENSP00000264952:p.Lys211fs		Somatic					p.K211fs	NM_139209.2	NP_631948.1	WXS	Illumina GAIIx	Phase_I	Q8WTQ7	GRK7_HUMAN			2	768	+			211			Protein kinase.			Frame_Shift_Del	DEL	ENST00000264952.2	37	c.631delA	CCDS3120.1																																																																																				0.458	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		17	25						17	25	---	---	---	---	-	141499234	A	-	141499234	7	5	21	1	0	1	0	1	0	0	0	0	6803	247	9	0	637	0	GRK7	3	141499234	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	10755773	141499234	56523196	152	1577										
ZIC4	84107	broad.mit.edu	37	chr3	147113791	147113791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgaagggctttccctggcgcGgacactcctcccagaagcaa	11	14	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:147113791G>A	ENST00000383075.3	-	3	1048	c.536C>T	c.(535-537)cCg>cTg	p.P179L	ZIC4_ENST00000525172.2_Missense_Mutation_p.P229L|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.P179L|ZIC4_ENST00000425731.3_Missense_Mutation_p.P217L|ZIC4_ENST00000484399.1_Missense_Mutation_p.P179L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	179						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TCCCTGGCGCGGACACTCCTC	0.587																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(535-537)cCg>cTg		Zic family member 4							116	128	124					3																	147113791		2203	4300	6503	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113791G>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.536C>T	3.37:g.147113791G>A	ENSP00000372553:p.Pro179Leu		Somatic				ZIC4_ENST00000473123.1_Missense_Mutation_p.P179L|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.P229L|ZIC4_ENST00000425731.3_Missense_Mutation_p.P217L|ZIC4_ENST00000484399.1_Missense_Mutation_p.P179L	p.P179L	NM_032153.5	NP_115529.2	WXS	Illumina GAIIx	Phase_I	Q8N9L1	ZIC4_HUMAN			3	1048	-			179					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.536C>T	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171762	0.78452	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	5.2	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000337	D	0.86615	0.5975	L	0.41124	1.26	0.80722	D	1	P;P	0.45348	0.466;0.856	B;B	0.42522	0.04;0.39	D	0.86520	0.1815	10	0.72032	D	0.01	.	10.9524	0.47336	0.1513:0.0:0.8487:0.0	.	229;179	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	L	179;217;229;179;179;179	ENSP00000372553:P179L;ENSP00000397695:P217L;ENSP00000435509:P229L;ENSP00000417855:P179L;ENSP00000420775:P179L;ENSP00000420627:P179L	ENSP00000372553:P179L	P	-	2	0	ZIC4	148596481	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.959000	0.63666	1.194000	0.43101	-0.350000	0.07774	CCG		0.587	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			25	190	0	0	0	1	0	25	190					A	147113791	G	A	147113791	3	1	21	1	0	0	0	0	1	0	0	0	17696	1116	39	1	480	1	ZIC4	3	147113791	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	5614557	147113791	50908639	153	1578										
PFN2	5217	broad.mit.edu	37	chr3	149684300	149684300	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aacccagagtctctcaagtaTtttgccattgagtatgcctt	7	10	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:149684300T>C	ENST00000239940.7	-	3	651	c.399A>G	c.(397-399)aaA>aaG	p.K133K	PFN2_ENST00000494827.1_Intron|PFN2_ENST00000481275.1_Silent_p.K84K|PFN2_ENST00000498307.1_Silent_p.K84K|PFN2_ENST00000475518.1_Silent_p.K84K|PFN2_ENST00000452853.2_Intron|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000490975.1_Silent_p.K118K|PFN2_ENST00000423691.2_Intron|PFN2_ENST00000497148.1_Silent_p.K84K|PFN2_ENST00000489155.1_Silent_p.K84K			P35080	PROF2_HUMAN	profilin 2	133					actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTCTCAAGTATTTTGCCATTG	0.393																																						ENST00000239940.7																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						c.(397-399)aaA>aaG		profilin 2							336	351	346					3																	149684300		2203	4300	6503	SO:0001819	synonymous_variant	5217				actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr3:149684300T>C	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.399A>G	3.37:g.149684300T>C			Somatic				PFN2_ENST00000481767.1_Intron|PFN2_ENST00000489155.1_Silent_p.K84K|PFN2_ENST00000490975.1_Silent_p.K118K|PFN2_ENST00000497148.1_Silent_p.K84K|PFN2_ENST00000452853.2_Intron|PFN2_ENST00000423691.2_Intron|PFN2_ENST00000475518.1_Silent_p.K84K|PFN2_ENST00000481275.1_Silent_p.K84K|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000498307.1_Silent_p.K84K	p.K133K			WXS	Illumina GAIIx	Phase_I	P35080	PROF2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		3	651	-			133					B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	Silent	SNP	ENST00000239940.7	37	c.399A>G	CCDS3148.1																																																																																				0.393	PFN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356873.2	NM_002628		269	327	0	0	0	1	0	269	327					C	149684300	T	C	149684300	2	2	21	1	0	0	0	0	0	0	0	1	11777	1490	52	4		4	PFN2	3	149684300	Silent	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2570509	149684300	48338130	154	1579										
P2RY12	64805	broad.mit.edu	37	chr3	151056503	151056503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agaaaatcctcatcgccaggCcatttgtgataagtccaaca	7	11	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:151056503C>T	ENST00000302632.3	-	3	430	c.131G>A	c.(130-132)gGc>gAc	p.G44D	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	44					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	CATCGCCAGGCCATTTGTGAT	0.403																																						ENST00000302632.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(130-132)gGc>gAc		purinergic receptor P2Y, G-protein coupled, 12	Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)						62	64	63					3																	151056503		2203	4300	6503	SO:0001583	missense	0				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr3:151056503C>T	AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.131G>A	3.37:g.151056503C>T	ENSP00000307259:p.Gly44Asp		Somatic				MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	p.G44D	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	WXS	Illumina GAIIx	Phase_I	Q9H244	P2Y12_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	430	-			44					D3DNJ5|Q546J7	Missense_Mutation	SNP	ENST00000302632.3	37	c.131G>A	CCDS3159.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711091	0.48517	.	.	ENSG00000169313	ENST00000302632;ENST00000455408	T	0.20738	2.05	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.325971	0.37053	N	0.002276	T	0.44414	0.1292	M	0.64170	1.965	0.31617	N	0.650703	B;P	0.37158	0.331;0.585	B;P	0.55455	0.182;0.776	T	0.45352	-0.9267	10	0.51188	T	0.08	-12.5714	19.0551	0.93059	0.0:1.0:0.0:0.0	.	44;44	A8K7T1;Q9H244	.;P2Y12_HUMAN	D	44	ENSP00000307259:G44D	ENSP00000307259:G44D	G	-	2	0	P2RY12	152539193	1.000000	0.71417	0.998000	0.56505	0.859000	0.49053	2.525000	0.45598	2.571000	0.86741	0.650000	0.86243	GGC		0.403	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357796.1			19	36	0	0	0	1	0	19	36					T	151056503	C	T	151056503	3	4	21	1	0	0	0	0	1	0	0	0	11358	739	26	3	901	3	P2RY12	3	151056503	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1372203	151056503	46965927	155	1580										
SGEF	26084	broad.mit.edu	37	chr3	153870684	153870684	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aaaccgagaggcaccatcttTtctccaatattacagatgtc	6	11	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:153870684T>C	ENST00000356448.4	+	6	1734	c.1450T>C	c.(1450-1452)Ttc>Ctc	p.F484L	ARHGEF26_ENST00000465093.1_Missense_Mutation_p.F484L|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	484	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GCACCATCTTTTCTCCAATAT	0.378																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	ENST00000356448.4																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						c.(1450-1452)Ttc>Ctc		Rho guanine nucleotide exchange factor (GEF) 26							72	65	67					3																	153870684		1903	4111	6014	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153870684T>C	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1450T>C	3.37:g.153870684T>C	ENSP00000348828:p.Phe484Leu		Somatic				ARHGEF26_ENST00000465093.1_Missense_Mutation_p.F484L|ARHGEF26_ENST00000465817.1_Intron	p.F484L	NM_001251962.1	NP_001238891.1	WXS	Illumina GAIIx	Phase_I	Q96DR7	ARHGQ_HUMAN			6	1734	+			484			DH.		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.1450T>C	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	T	32	5.192240	0.94960	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	D;D	0.83992	-1.79;-1.79	5.55	5.55	0.83447	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.90638	0.7064	M	0.74546	2.27	0.80722	D	1	D;D	0.76494	0.994;0.999	P;D	0.83275	0.873;0.996	D	0.91479	0.5203	10	0.62326	D	0.03	-24.6696	15.7039	0.77563	0.0:0.0:0.0:1.0	.	484;484	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	L	484	ENSP00000348828:F484L;ENSP00000423418:F484L	ENSP00000348828:F484L	F	+	1	0	ARHGEF26	155353374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.930000	0.87610	2.105000	0.64084	0.455000	0.32223	TTC		0.378	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		3	13	0	0	0	1	0	3	13					C	153870684	T	C	153870684	3	2	21	1	0	0	0	0	1	0	0	0	14220	1841	64	4	1468	4	SGEF	3	153870684	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2814181	153870684	44151746	156	1581										
PLCH1	23007	broad.mit.edu	37	chr3	155206447	155206447	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaaaaggccagctcatacctAccaggcactaagctgctgaa	9	12	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:155206447A>G	ENST00000340059.7	-	19	2503		c.e19+1		PLCH1_ENST00000447496.2_Splice_Site|PLCH1_ENST00000334686.6_Splice_Site|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000494598.1_Splice_Site|PLCH1_ENST00000460012.1_Splice_Site|PLCH1_ENST00000414191.1_Splice_Site	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1						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)			GCTCATACCTACCAGGCACTA	0.408																																						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.e20+1		phospholipase C, eta 1							111	88	96					3																	155206447		2203	4300	6503	SO:0001630	splice_region_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155206447A>G	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.2503+1T>C	3.37:g.155206447A>G			Somatic				PLCH1_ENST00000334686.6_Splice_Site|PLCH1_ENST00000414191.1_Splice_Site|PLCH1_ENST00000447496.2_Splice_Site|PLCH1_ENST00000340059.7_Splice_Site|PLCH1_ENST00000494598.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		20	2807	-								Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Splice_Site	SNP	ENST00000340059.7	37		CCDS46939.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.735322	0.89482	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4661	0.75403	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLCH1	156689141	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	8.817000	0.91985	2.038000	0.60285	0.533000	0.62120	.		0.408	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	Intron	24	28	0	0	0	1	0	24	28					G	155206447	A	G	155206447	5	3	21	1	0	0	0	0	0	0	1	0	12046	405	14	4	2611	4	PLCH1	3	155206447	Splice_Site	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	1335763	155206447	42815983	157	1582										
SI	6476	broad.mit.edu	37	chr3	164712126	164712126	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aaaaatagggcaataaggtgTatctaatatttagaatattc	7	3	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:164712126T>C	ENST00000264382.3	-	41	4822	c.4760A>G	c.(4759-4761)tAc>tGc	p.Y1587C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1587	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)	CAATAAGGTGTATCTAATATT	0.348										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.(4759-4761)tAc>tGc		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						118	119	119					3																	164712126		2203	4299	6502	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164712126T>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.4760A>G	3.37:g.164712126T>C	ENSP00000264382:p.Tyr1587Cys	HNSCC(35;0.089)	Somatic					p.Y1587C	NM_001041.3	NP_001032.2	WXS	Illumina GAIIx	Phase_I	P14410	SUIS_HUMAN			41	4822	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1587			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4760A>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.438268	0.62955	.	.	ENSG00000090402	ENST00000264382	D	0.93763	-3.28	5.2	5.2	0.72013	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98099	0.9373	H	0.98559	4.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99525	1.0959	10	0.87932	D	0	.	15.2342	0.73416	0.0:0.0:0.0:1.0	.	1587	P14410	SUIS_HUMAN	C	1587	ENSP00000264382:Y1587C	ENSP00000264382:Y1587C	Y	-	2	0	SI	166194820	1.000000	0.71417	0.980000	0.43619	0.457000	0.32468	7.598000	0.82745	2.319000	0.78375	0.524000	0.50904	TAC		0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		30	27	0	0	0	1	0	30	27					C	164712126	T	C	164712126	3	2	21	1	0	0	0	0	1	0	0	0	14312	1638	57	4	755	4	SI	3	164712126	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	9505679	164712126	33310304	158	1583										
GOLIM4	27333	broad.mit.edu	37	chr3	167754717	167754717	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttttgctgttctgctggatcAggttttcgaaggcttggaat	12	6	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:167754717A>G	ENST00000470487.1	-	8	1439	c.750T>C	c.(748-750)ccT>ccC	p.P250P	GOLIM4_ENST00000309027.4_Silent_p.P222P	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	250					transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGCTGGATCAGGTTTTCGAA	0.453																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(748-750)ccT>ccC		golgi integral membrane protein 4							225	214	218					3																	167754717		2203	4300	6503	SO:0001819	synonymous_variant	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167754717A>G	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"golgi phosphoprotein 4"	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.750T>C	3.37:g.167754717A>G			Somatic				GOLIM4_ENST00000309027.4_Silent_p.P222P	p.P250P	NM_014498.3	NP_055313.1	WXS	Illumina GAIIx	Phase_I	O00461	GOLI4_HUMAN			8	1439	-			250						Silent	SNP	ENST00000470487.1	37	c.750T>C	CCDS3204.1																																																																																				0.453	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			53	93	0	0	0	1	0	53	93					G	167754717	A	G	167754717	2	3	21	1	0	0	0	0	0	0	0	1	6574	175	7	4		4	GOLIM4	3	167754717	Silent	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	3042591	167754717	30267713	159	1584										
PHC3	80012	broad.mit.edu	37	chr3	169846643	169846643	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccctgggacagaatttcaggCtgcacttgtaaagactgcat	10	10	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:169846643C>T	ENST00000494943.1	-	8	1649	c.1581G>A	c.(1579-1581)caG>caA	p.Q527Q	PHC3_ENST00000467570.1_Silent_p.Q486Q|PHC3_ENST00000495893.2_Silent_p.Q539Q			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	527	Gln-rich.|Pro-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAATTTCAGGCTGCACTTGTA	0.507																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(1579-1581)caG>caA		polyhomeotic homolog 3 (Drosophila)							127	130	129					3																	169846643		1953	4153	6106	SO:0001819	synonymous_variant	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169846643C>T		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"Sterile alpha motif (SAM) domain containing"	15682	protein-coding gene	gene with protein product	"early development regulator 3", "polyhomeotic like 3"		"polyhomeotic like 3 (Drosophila)"			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.1581G>A	3.37:g.169846643C>T			Somatic				PHC3_ENST00000467570.1_Silent_p.Q486Q|PHC3_ENST00000495893.1_Silent_p.Q539Q	p.Q527Q			WXS	Illumina GAIIx	Phase_I	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		8	1649	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		527			Gln-rich.|Pro-rich.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Silent	SNP	ENST00000494943.1	37	c.1581G>A																																																																																					0.507	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		69	74	0	0	0	1	0	69	74					T	169846643	C	T	169846643	2	4	21	1	0	0	0	0	0	0	0	1	11827	796	28	3		3	PHC3	3	169846643	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2091926	169846643	28175787	160	1585										
MFN1	55669	broad.mit.edu	37	chr3	179107816	179107816	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atagctaccacttttgctcgCctgtgccaacaagttgatat	7	11	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:179107816C>T	ENST00000471841.1	+	17	2163	c.2037C>T	c.(2035-2037)cgC>cgT	p.R679R	MFN1_ENST00000263969.5_Silent_p.R679R|MFN1_ENST00000280653.7_Silent_p.R568R	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	679					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)			CTTTTGCTCGCCTGTGCCAAC	0.299																																						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.(2035-2037)cgC>cgT		mitofusin 1							60	64	63					3																	179107816		2203	4299	6502	SO:0001819	synonymous_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179107816C>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.2037C>T	3.37:g.179107816C>T			Somatic				MFN1_ENST00000263969.5_Silent_p.R679R|MFN1_ENST00000280653.7_Silent_p.R568R	p.R679R	NM_033540.2	NP_284941.2	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)		17	2163	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		679					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	c.2037C>T	CCDS3228.1																																																																																				0.299	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		10	17	0	0	0	1	0	10	17					T	179107816	C	T	179107816	2	4	21	1	0	0	0	0	0	0	0	1	9532	726	26	3		3	MFN1	3	179107816	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	9261173	179107816	18914614	161	1586										
YEATS2	55689	broad.mit.edu	37	chr3	183515755	183515755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agtccagtccgcagcaggccGtcctgacgattcccagccag	11	16	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:183515755G>A	ENST00000305135.5	+	22	3337	c.3142G>A	c.(3142-3144)Gtc>Atc	p.V1048I		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1048					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)			GCAGCAGGCCGTCCTGACGAT	0.512																																						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.(3142-3144)Gtc>Atc		YEATS domain containing 2							100	102	101					3																	183515755		2072	4203	6275	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.chr3:183515755G>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3142G>A	3.37:g.183515755G>A	ENSP00000306983:p.Val1048Ile		Somatic					p.V1048I	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)		22	3337	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1048					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.3142G>A	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198074	0.58126	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.42900	0.96	5.98	5.06	0.68205	.	0.000000	0.64402	D	0.000001	T	0.28400	0.0702	L	0.32530	0.975	0.46564	D	0.999106	P	0.47253	0.892	B	0.32465	0.146	T	0.09443	-1.0674	10	0.38643	T	0.18	-20.9657	15.0763	0.72080	0.0:0.1409:0.859:0.0	.	1048	Q9ULM3	YETS2_HUMAN	I	1048	ENSP00000306983:V1048I	ENSP00000306983:V1048I	V	+	1	0	YEATS2	184998449	1.000000	0.71417	0.971000	0.41717	0.494000	0.33585	5.459000	0.66685	2.838000	0.97847	0.591000	0.81541	GTC		0.512	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		29	35	0	0	0	1	0	29	35					A	183515755	G	A	183515755	3	1	21	1	0	0	0	0	1	0	0	0	17487	1145	40	1	3224	1	YEATS2	3	183515755	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	4407939	183515755	14506675	162	1587										
DVL3	1857	broad.mit.edu	37	chr3	183888361	183888361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acccgagctacggtcctcccGgagtgccccctctctacggc	10	19	1	0	rs551717443		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:183888361G>A	ENST00000313143.3	+	15	2217	c.1969G>A	c.(1969-1971)Gga>Aga	p.G657R	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.G640R	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	657					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)			CGGTCCTCCCGGAGTGCCCCC	0.746													G|||	1	0.000199681	8e-04	0	5008	,	,		8263	0		0	False		,,,				2504	0					ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(1969-1971)Gga>Aga		dishevelled segment polarity protein 3							29	39	36					3																	183888361		2196	4298	6494	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.chr3:183888361G>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.1969G>A	3.37:g.183888361G>A	ENSP00000316054:p.Gly657Arg		Somatic				DVL3_ENST00000431765.1_Missense_Mutation_p.G640R|EIF2B5_ENST00000444495.1_Intron	p.G657R	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)		15	2217	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		657					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.1969G>A	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864546	0.51482	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.06068	3.35;3.37	3.91	3.91	0.45181	Dishevelled C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25044	0.0608	M	0.76727	2.345	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;0.995;0.991;0.999	T	0.03829	-1.1000	10	0.56958	D	0.05	-4.2773	16.2832	0.82707	0.0:0.0:1.0:0.0	.	640;489;657;657	B4E3E5;Q9UG07;F5GWR8;Q92997	.;.;.;DVL3_HUMAN	R	657;657;640	ENSP00000316054:G657R;ENSP00000405885:G640R	ENSP00000316054:G657R	G	+	1	0	DVL3	185371055	1.000000	0.71417	0.928000	0.36995	0.842000	0.47809	7.020000	0.76419	1.894000	0.54839	0.561000	0.74099	GGA		0.746	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		19	13	0	0	0	1	0	19	13					A	183888361	G	A	183888361	3	1	21	1	0	0	0	0	1	0	0	0	4839	1117	39	1	2027	1	DVL3	3	183888361	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	372606	183888361	14134069	163	1588										
ECE2	9718	broad.mit.edu	37	chr3	183994375	183994375	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggtgggcaagggggcttcccCtttctcaccaggccccagcc	13	16	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:183994375C>T	ENST00000402825.3	+	3	480				EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.P49L|ECE2_ENST00000359140.4_Intron|ECE2_ENST00000404464.3_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGGCTTCCCCTTTCTCACCA	0.687																																						ENST00000357474.5																			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.(145-147)cCt>cTt		endothelin converting enzyme 2							17	20	19					3																	183994375		1966	4130	6096	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.chr3:183994375C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.481-305C>T	3.37:g.183994375C>T			Somatic				ECE2_ENST00000359140.4_Intron|ECE2_ENST00000404464.3_Intron|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000402825.3_Intron	p.P49L			WXS	Illumina GAIIx	Phase_I	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	265	+	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.146C>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621520	0.46736	.	.	ENSG00000145194	ENST00000357474	D	0.81659	-1.52	3.36	1.42	0.22433	.	1.045000	0.07803	U	0.956839	T	0.59569	0.2203	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44421	-0.9329	9	.	.	.	.	5.4005	0.16293	0.0:0.6673:0.2082:0.1246	.	49;49	B7Z1P1;O60344-5	.;.	L	49	ENSP00000350066:P49L	.	P	+	2	0	ECE2	185477069	0.000000	0.05858	0.004000	0.12327	0.858000	0.48976	-0.110000	0.10824	0.366000	0.24427	0.462000	0.41574	CCT		0.687	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		7	17	0	0	0	1	0	7	17					T	183994375	C	T	183994375	1	4	21	0	1	0	0	0	0	0	0	0	4892	681	24	3		3	ECE2	3	183994375	Intron	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	106014	183994375	14028055	164	1589										
MASP1	5648	broad.mit.edu	37	chr3	186953726	186953726	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gccagcacagaacatgttctCcgtgacgctgtaattgcccg	10	13	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:186953726C>T	ENST00000337774.5	-	10	1693				MASP1_ENST00000392472.2_Missense_Mutation_p.E532K|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000296280.6_Missense_Mutation_p.E645K	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)		AACATGTTCTCCGTGACGCTG	0.547																																						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.(1933-1935)Gag>Aag		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							99	80	87					3																	186953726		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.chr3:186953726C>T	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5542G>A	3.37:g.186953726C>T			Somatic				MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000392472.2_Missense_Mutation_p.E532K	p.E645K	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	2158	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		627			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1933G>A	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000757	0.74818	.	.	ENSG00000127241	ENST00000296280;ENST00000392472	D;D	0.93307	-3.2;-3.2	5.87	5.87	0.94306	.	0.425696	0.28841	N	0.013975	D	0.88325	0.6406	N	0.16862	0.45	0.80722	D	1	B;B	0.22211	0.03;0.066	B;B	0.23716	0.033;0.048	T	0.82623	-0.0366	10	0.22109	T	0.4	.	19.5705	0.95413	0.0:1.0:0.0:0.0	.	532;645	P48740-4;P48740-2	.;.	K	645;532	ENSP00000296280:E645K;ENSP00000376264:E532K	ENSP00000296280:E645K	E	-	1	0	MASP1	188436420	0.998000	0.40836	0.974000	0.42286	0.990000	0.78478	3.960000	0.56752	2.941000	0.99782	0.655000	0.94253	GAG		0.547	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		23	34	0	0	0	1	0	23	34					T	186953726	C	T	186953726	1	4	21	0	1	0	0	0	0	0	0	0	9331	864	30	3		3	MASP1	3	186953726	Intron	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2959351	186953726	11068704	165	1590										
FGF12	2257	broad.mit.edu	37	chr3	192053197	192053197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	catggccacatagaggctagCcttcactccttggatggcca	10	13	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:192053197C>T	ENST00000454309.2	-	3	1192	c.367G>A	c.(367-369)Gct>Act	p.A123T	FGF12_ENST00000264730.3_Missense_Mutation_p.A61T|FGF12_ENST00000450716.1_Missense_Mutation_p.A61T|FGF12_ENST00000430714.1_Missense_Mutation_p.A24T|FGF12_ENST00000445105.2_Missense_Mutation_p.A61T	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	123					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TAGAGGCTAGCCTTCACTCCT	0.478																																						ENST00000454309.2																			0				endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(367-369)Gct>Act		fibroblast growth factor 12							103	87	92					3																	192053197		2203	4300	6503	SO:0001583	missense	2257				cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	g.chr3:192053197C>T	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"fibroblast growth factor 12B", "fibroblast growth factor homologous factor 1", "myocyte-activating factor", "fibroblast growth factor FGF-12b"	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.367G>A	3.37:g.192053197C>T	ENSP00000413496:p.Ala123Thr		Somatic				FGF12_ENST00000264730.3_Missense_Mutation_p.A61T|FGF12_ENST00000445105.1_Missense_Mutation_p.A61T|FGF12_ENST00000450716.1_Missense_Mutation_p.A61T|FGF12_ENST00000430714.1_Missense_Mutation_p.A24T	p.A123T	NM_021032.4	NP_066360.1	WXS	Illumina GAIIx	Phase_I	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	3	1192	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	123					B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Missense_Mutation	SNP	ENST00000454309.2	37	c.367G>A	CCDS3301.1	.	.	.	.	.	.	.	.	.	.	C	6.758	0.508630	0.12883	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000450716;ENST00000430714;ENST00000448795;ENST00000418610	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.51	5.51	0.81932	.	0.230009	0.43579	D	0.000547	T	0.32704	0.0838	N	0.01505	-0.83	0.49798	D	0.999821	B;B	0.09022	0.002;0.001	B;B	0.12837	0.005;0.008	T	0.41610	-0.9499	10	0.02654	T	1	.	16.9208	0.86164	0.0:1.0:0.0:0.0	.	61;123	P61328-2;P61328	.;FGF12_HUMAN	T	61;61;61;123;61;24;37;61	ENSP00000264730:A61T;ENSP00000393686:A61T;ENSP00000413496:A123T;ENSP00000397635:A61T;ENSP00000410125:A24T;ENSP00000412904:A37T;ENSP00000395517:A61T	ENSP00000264730:A61T	A	-	1	0	FGF12	193535891	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.092000	0.41700	2.573000	0.86826	0.655000	0.94253	GCT		0.478	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		15	36	0	0	0	1	0	15	36					T	192053197	C	T	192053197	3	4	21	1	0	0	0	0	1	0	0	0	5849	739	26	3	376	3	FGF12	3	192053197	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	5099471	192053197	5969233	166	1591										
FBXO45	200933	broad.mit.edu	37	chr3	196304421	196304421	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acatcgaaaccccattgctcAgagcactgatggtgcaagga	10	11	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:196304421A>G	ENST00000311630.6	+	2	713	c.416A>G	c.(415-417)cAg>cGg	p.Q139R	FBXO45_ENST00000440469.1_5'UTR	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	139	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CCCATTGCTCAGAGCACTGAT	0.498																																						ENST00000311630.6																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(415-417)cAg>cGg		F-box protein 45							60	57	58					3																	196304421		1941	4133	6074	SO:0001583	missense	200933				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding	g.chr3:196304421A>G	AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"F-boxes /  "other""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.416A>G	3.37:g.196304421A>G	ENSP00000310332:p.Gln139Arg		Somatic				FBXO45_ENST00000440469.1_5'UTR	p.Q139R	NM_001105573.1	NP_001099043.1	WXS	Illumina GAIIx	Phase_I	P0C2W1	FBSP1_HUMAN	Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	2	713	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		139			B30.2/SPRY.		A6NF90|D3DXB5	Missense_Mutation	SNP	ENST00000311630.6	37	c.416A>G	CCDS46985.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451929	0.84209	.	.	ENSG00000174013	ENST00000311630	T	0.59502	0.26	4.89	4.89	0.63831	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.76828	0.4042	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.81711	-0.0808	10	0.87932	D	0	-17.4848	14.6703	0.68939	1.0:0.0:0.0:0.0	.	139	P0C2W1	FBSP1_HUMAN	R	139	ENSP00000310332:Q139R	ENSP00000310332:Q139R	Q	+	2	0	FBXO45	197788818	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.490000	0.90464	2.066000	0.61787	0.379000	0.24179	CAG		0.498	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340687.2			13	20	0	0	0	1	0	13	20					G	196304421	A	G	196304421	3	3	21	1	0	0	0	0	1	0	0	0	5762	188	7	4	422	4	FBXO45	3	196304421	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	4251224	196304421	1718009	167	1592										
MFI2	4241	broad.mit.edu	37	chr3	196730857	196730857	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccgcggtaggtggttttctcTccgacaggcaccgcccggac	13	15	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:196730857T>C	ENST00000296350.5	-	15	2165	c.2052A>G	c.(2050-2052)ggA>ggG	p.G684G	MFI2-AS1_ENST00000446695.1_RNA|MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000414354.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	684	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)		TGGTTTTCTCTCCGACAGGCA	0.607																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(2050-2052)ggA>ggG		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5							218	235	229					3																	196730857		2203	4300	6503	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.chr3:196730857T>C		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.2052A>G	3.37:g.196730857T>C			Somatic				MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000414354.1_RNA	p.G684G	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)	15	2165	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		684			Transferrin-like 2.		Q9BQE2	Silent	SNP	ENST00000296350.5	37	c.2052A>G	CCDS3325.1																																																																																				0.607	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			184	242	0	0	0	1	0	184	242					C	196730857	T	C	196730857	2	2	21	1	0	0	0	0	0	0	0	1	9531	1538	54	4		4	MFI2	3	196730857	Silent	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	426436	196730857	1291573	168	1593										
MFI2	4241	broad.mit.edu	37	chr3	196733483	196733483	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcgggccggaccatcacggcGtggggtggtatctgtgccag	17	11	2	0	rs373843781		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:196733483G>A	ENST00000296350.5	-	14	1988	c.1875C>T	c.(1873-1875)caC>caT	p.H625H	MFI2-AS1_ENST00000446695.1_RNA|MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000414354.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	625	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)		CCATCACGGCGTGGGGTGGTA	0.627													A|||	1	0.000199681	8e-04	0	5008	,	,		14854	0		0	False		,,,				2504	0					ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(1873-1875)caC>caT		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5		A		1,4405	825.8+/-416.5	0,1,2202	73	69	70		1875	-10.5	0	3		70	0,8600		0,0,4300	no	coding-synonymous	MFI2	NM_005929.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		625/739	196733483	1,13005	2203	4300	6503	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.chr3:196733483G>A		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.1875C>T	3.37:g.196733483G>A			Somatic					p.H625H	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)	14	1988	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		625			Transferrin-like 2.		Q9BQE2	Silent	SNP	ENST00000296350.5	37	c.1875C>T	CCDS3325.1																																																																																				0.627	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			17	39	0	0	0	1	0	17	39					A	196733483	G	A	196733483	2	1	21	1	0	0	0	0	0	0	0	1	9531	1136	40	1		1	MFI2	3	196733483	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2626	196733483	1288947	169	1594										
FGFRL1	53834	broad.mit.edu	37	chr4	1017702	1017702	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aagtgcgtggccagcgggcaCcctcggcccgacatcacgtg	14	15	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:1017702C>T	ENST00000398484.2	+	6	1111	c.531C>T	c.(529-531)caC>caT	p.H177H	FGFRL1_ENST00000264748.6_Silent_p.H177H|FGFRL1_ENST00000510644.1_Silent_p.H177H|FGFRL1_ENST00000504138.1_Silent_p.H177H			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	177	Ig-like C2-type 2.				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)			CCAGCGGGCACCCTCGGCCCG	0.667																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(529-531)caC>caT		fibroblast growth factor receptor-like 1							19	20	19					4																	1017702		2178	4270	6448	SO:0001819	synonymous_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1017702C>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.531C>T	4.37:g.1017702C>T			Somatic				FGFRL1_ENST00000264748.6_Silent_p.H177H|FGFRL1_ENST00000510644.1_Silent_p.H177H|FGFRL1_ENST00000504138.1_Silent_p.H177H	p.H177H			WXS	Illumina GAIIx	Phase_I	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		6	1111	+			177			Ig-like C2-type 2.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Silent	SNP	ENST00000398484.2	37	c.531C>T	CCDS3344.1																																																																																				0.667	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		6	8	0	0	0	1	0	6	8					T	1017702	C	T	1017702	2	4	21	1	0	0	0	0	0	0	0	1	5877	506	18	3		3	FGFRL1	4	1017702	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08		1017702	190136574	170	1595										
KIAA1530	57654	broad.mit.edu	37	chr4	1360206	1360206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccacacatccccgaccacttGcggcctgagtatggtgagca	10	15	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:1360206G>A	ENST00000389851.4	+	8	1722	c.1275G>A	c.(1273-1275)ttG>ttA	p.L425L	UVSSA_ENST00000507531.1_Silent_p.L425L|UVSSA_ENST00000511563.1_5'UTR|UVSSA_ENST00000511216.1_Silent_p.L425L	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	425					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)										CCGACCACTTGCGGCCTGAGT	0.637																																						ENST00000389851.4																			0											c.(1273-1275)ttG>ttA		UV-stimulated scaffold protein A							119	110	113					4																	1360206		2203	4300	6503	SO:0001819	synonymous_variant	57654							g.chr4:1360206G>A	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.1275G>A	4.37:g.1360206G>A			Somatic				UVSSA_ENST00000511563.1_5'UTR|UVSSA_ENST00000511216.1_Silent_p.L425L|UVSSA_ENST00000507531.1_Silent_p.L425L	p.L425L	NM_020894.2	NP_065945.2	WXS	Illumina GAIIx	Phase_I	Q2YD98	K1530_HUMAN			8	1722	+			425					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Silent	SNP	ENST00000389851.4	37	c.1275G>A	CCDS33938.1																																																																																				0.637	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		68	99	0	0	0	1	0	68	99					A	1360206	G	A	1360206	2	1	21	1	0	0	0	0	0	0	0	1	8250	1310	46	3		3	KIAA1530	4	1360206	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	342504	1360206	189794070	171	1596										
TACC3	10460	broad.mit.edu	37	chr4	1729657	1729657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tctccaggaaaagtgtctggCagccctgagcaagccgtgga	13	11	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:1729657C>T	ENST00000313288.4	+	4	634	c.528C>T	c.(526-528)ggC>ggT	p.G176G		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	176					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AAGTGTCTGGCAGCCCTGAGC	0.552																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(526-528)ggC>ggT		transforming, acidic coiled-coil containing protein 3							64	75	71					4																	1729657		2203	4300	6503	SO:0001819	synonymous_variant	10460					centrosome		g.chr4:1729657C>T	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.528C>T	4.37:g.1729657C>T			Somatic					p.G176G	NM_006342.2	NP_006333.1	WXS	Illumina GAIIx	Phase_I	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	634	+		Breast(71;0.212)|all_epithelial(65;0.241)	176					Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	c.528C>T	CCDS3352.1																																																																																				0.552	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			58	73	0	0	0	1	0	58	73					T	1729657	C	T	1729657	2	4	21	1	0	0	0	0	0	0	0	1	15518	697	25	3		3	TACC3	4	1729657	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	369451	1729657	189424619	172	1597										
WHSC2	7469	broad.mit.edu	37	chr4	1988038	1988038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgcagcagcgtcctggaaggCgggatgggggtccggttccc	18	12	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:1988038C>T	ENST00000411638.2	-	5	741	c.726G>A	c.(724-726)ccG>ccA	p.P242P	MIR943_ENST00000401286.1_RNA|NELFA_ENST00000382882.3_Silent_p.P253P|NELFA_ENST00000542778.1_Silent_p.P107P	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	242	HDAg-like.				gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										TCCTGGAAGGCGGGATGGGGG	0.697																																						ENST00000382882.3																			0											c.(757-759)ccG>ccA		negative elongation factor complex member A							22	23	23					4																	1988038		2187	4292	6479	SO:0001819	synonymous_variant	7469							g.chr4:1988038C>T	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"Wolf-Hirschhorn syndrome candidate 2"	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.726G>A	4.37:g.1988038C>T			Somatic				NELFA_ENST00000542778.1_Silent_p.P107P|NELFA_ENST00000411638.1_Silent_p.P242P	p.P253P	NM_005663.4	NP_005654.3	WXS	Illumina GAIIx	Phase_I					5	1876	-								A2A2T1|O95392	Silent	SNP	ENST00000411638.2	37	c.759G>A		.	.	.	.	.	.	.	.	.	.	C	3.300	-0.143043	0.06669	.	.	ENSG00000185049	ENST00000453740	.	.	.	4.76	-8.3	0.01005	.	.	.	.	.	T	0.36276	0.0961	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43081	-0.9413	4	.	.	.	-28.1449	3.6934	0.08354	0.0833:0.2027:0.2736:0.4404	.	.	.	.	H	143	.	.	R	-	2	0	WHSC2	1957836	0.000000	0.05858	0.276000	0.24689	0.246000	0.25737	-2.213000	0.01224	-1.367000	0.02152	-0.379000	0.06801	CGC		0.697	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		10	7	0	0	0	1	0	10	7					T	1988038	C	T	1988038	2	4	21	1	0	0	0	0	0	0	0	1	17379	755	27	1		1	WHSC2	4	1988038	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	258381	1988038	189166238	173	1598										
HAUS3	79441	broad.mit.edu	37	chr4	2242253	2242253	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctttttagtggcttcttcttCtttagcatttaacctcagag	6	9	4	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:2242253C>T	ENST00000243706.4	-	2	650	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.E141K|HAUS3_ENST00000506763.1_Missense_Mutation_p.E141K	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	141					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCTTCTTCTTCTTTAGCATTT	0.353																																						ENST00000243706.4																			0				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(421-423)Gaa>Aaa		HAUS augmin-like complex, subunit 3							98	102	101					4																	2242253		2202	4299	6501	SO:0001583	missense	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2242253C>T	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"HAUS augmin-like complex subunits"	28719	protein-coding gene	gene with protein product		613430	"chromosome 4 open reading frame 15"	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.421G>A	4.37:g.2242253C>T	ENSP00000243706:p.Glu141Lys		Somatic				HAUS3_ENST00000506763.1_Missense_Mutation_p.E141K|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.E141K|POLN_ENST00000515357.1_Intron	p.E141K	NM_024511.5	NP_078787.2	WXS	Illumina GAIIx	Phase_I	Q68CZ6	HAUS3_HUMAN			2	650	-			141					B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	37	c.421G>A	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469079	0.26335	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.47177	0.85;0.85	5.29	2.57	0.30868	.	0.269718	0.31123	U	0.008213	T	0.46964	0.1420	M	0.73598	2.24	0.09310	N	1	P;P	0.47253	0.892;0.892	P;P	0.50490	0.642;0.642	T	0.45190	-0.9278	10	0.02654	T	1	-20.3387	5.8413	0.18635	0.1289:0.6322:0.1622:0.0767	.	141;141	B4DF64;Q68CZ6	.;HAUS3_HUMAN	K	141	ENSP00000243706:E141K;ENSP00000392903:E141K	ENSP00000243706:E141K	E	-	1	0	HAUS3	2212051	0.993000	0.37304	0.000000	0.03702	0.307000	0.27823	0.993000	0.29680	0.273000	0.22049	0.655000	0.94253	GAA		0.353	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		26	40	0	0	0	1	0	26	40					T	2242253	C	T	2242253	3	4	21	1	0	0	0	0	1	0	0	0	6976	922	32	3	1406	3	HAUS3	4	2242253	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	254215	2242253	188912023	174	1599										
JAKMIP1	152789	broad.mit.edu	37	chr4	6031488	6031488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgcttctgaaactccagtttGtcctccagttctcggattct	7	13	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:6031488G>A	ENST00000409021.3	-	20	2849	c.2400C>T	c.(2398-2400)gaC>gaT	p.D800D	JAKMIP1_ENST00000409371.3_Silent_p.D615D	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	0					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						ACTCCAGTTTGTCCTCCAGTT	0.418																																						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.(2398-2400)gaC>gaT		janus kinase and microtubule interacting protein 1							99	91	93					4																	6031488		1846	4101	5947	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6031488G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2400C>T	4.37:g.6031488G>A			Somatic				JAKMIP1_ENST00000409371.3_Silent_p.D615D	p.D800D	NM_001099433.1	NP_001092903.1	WXS	Illumina GAIIx	Phase_I	Q96N16	JKIP1_HUMAN			20	2849	-			571					A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000409021.3	37	c.2400C>T	CCDS47005.1	.	.	.	.	.	.	.	.	.	.	G	5.463	0.270413	0.10349	.	.	ENSG00000152969	ENST00000418227	.	.	.	4.68	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	3.4465	0.07482	0.3196:0.0:0.4837:0.1967	.	.	.	.	X	390	.	ENSP00000406526:Q390X	Q	-	1	0	JAKMIP1	6082389	0.992000	0.36948	0.648000	0.29521	0.604000	0.37047	0.666000	0.25097	0.446000	0.26666	0.655000	0.94253	CAA		0.418	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329747.1	NM_144720		5	9	0	0	0	1	0	5	9					A	6031488	G	A	6031488	2	1	21	1	0	0	0	0	0	0	0	1	7949	1368	48	3		3	JAKMIP1	4	6031488	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3789235	6031488	185122788	175	1600										
WFS1	7466	broad.mit.edu	37	chr4	6302765	6302765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcctgctctctgtcttcttcGtcatcttctccttccccatc	3	18	6	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:6302765G>A	ENST00000226760.1	+	8	1413	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	WFS1_ENST00000503569.1_Missense_Mutation_p.V415I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	415			Missing (in WFS1; greatly reduces protein expression compared to wild-type). {ECO:0000269|PubMed:15605410, ECO:0000269|PubMed:21538838}.		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)		TGTCTTCTTCGTCATCTTCTC	0.597																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21	GRCh37	CD993078	WFS1	D		c.(1243-1245)Gtc>Atc		Wolfram syndrome 1 (wolframin)							199	199	199					4																	6302765		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6302765G>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.1243G>A	4.37:g.6302765G>A	ENSP00000226760:p.Val415Ile		Somatic				WFS1_ENST00000503569.1_Missense_Mutation_p.V415I	p.V415I	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	1413	+			415		Missing (in WFS).			B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.1243G>A	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	g	8.135	0.783898	0.16189	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.90563	-2.69;-2.69	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.88837	0.6545	M	0.73598	2.24	0.58432	D	0.999998	P	0.49358	0.923	B	0.39904	0.313	D	0.87651	0.2528	10	0.12766	T	0.61	-41.9359	16.7024	0.85357	0.0:0.0:1.0:0.0	.	415	O76024	WFS1_HUMAN	I	415	ENSP00000423337:V415I;ENSP00000226760:V415I	ENSP00000226760:V415I	V	+	1	0	WFS1	6353666	1.000000	0.71417	0.997000	0.53966	0.057000	0.15508	7.296000	0.78790	2.181000	0.69327	0.556000	0.70494	GTC		0.597	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			78	114	0	0	0	1	0	78	114					A	6302765	G	A	6302765	3	1	21	1	0	0	0	0	1	0	0	0	17375	1145	40	1	1269	1	WFS1	4	6302765	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	271277	6302765	184851511	176	1601										
GPR78	27201	broad.mit.edu	37	chr4	8588799	8588799	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggctggcggagctcgtgccCttcgtcaccgtgaacgccca	13	15	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:8588799C>A	ENST00000382487.4	+	3	1218	c.801C>A	c.(799-801)ccC>ccA	p.P267P	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	267					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)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						AGCTCGTGCCCTTCGTCACCG	0.652																																						ENST00000382487.4																			0				central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(799-801)ccC>ccA		G protein-coupled receptor 78							36	36	36					4																	8588799		2203	4299	6502	SO:0001819	synonymous_variant	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8588799C>A	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.801C>A	4.37:g.8588799C>A			Somatic				GPR78_ENST00000509216.1_3'UTR	p.P267P	NM_080819.4	NP_543009.2	WXS	Illumina GAIIx	Phase_I	Q96P69	GPR78_HUMAN			3	1218	+			267					Q8NGV3	Silent	SNP	ENST00000382487.4	37	c.801C>A	CCDS3403.1																																																																																				0.652	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			24	36	1	0	5.45024e-15	1	5.86486e-15	24	36					A	8588799	C	A	8588799	2	1	21	1	0	0	0	0	0	0	0	1	6718	668	24	5		5	GPR78	4	8588799	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2286034	8588799	182565477	177	1602										
DRD5	1816	broad.mit.edu	37	chr4	9784646	9784646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caccccgaaggccctccggcCggcttcccctgcgtcagtga	11	19	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:9784646C>T	ENST00000304374.2	+	1	1389	c.993C>T	c.(991-993)gcC>gcT	p.A331A		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	331					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCCCTCCGGCCGGCTTCCCCT	0.592																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(991-993)gcC>gcT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						91	92	91					4																	9784646		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784646C>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.993C>T	4.37:g.9784646C>T			Somatic					p.A331A	NM_000798.4	NP_000789.1	WXS	Illumina GAIIx	Phase_I	P21918	DRD5_HUMAN			1	1389	+			331					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.993C>T	CCDS3405.1																																																																																				0.592	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			84	84	0	0	0	1	0	84	84					T	9784646	C	T	9784646	2	4	21	1	0	0	0	0	0	0	0	1	4762	639	23	1		1	DRD5	4	9784646	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1195847	9784646	181369630	178	1603										
ZNF518B	85460	broad.mit.edu	37	chr4	10447381	10447381	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	catagtcacaatactcacacTgataaggaaatatgcctgtg	7	9	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:10447381T>C	ENST00000326756.3	-	3	1010	c.572A>G	c.(571-573)cAg>cGg	p.Q191R		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	191					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						ATACTCACACTGATAAGGAAA	0.403																																						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.(571-573)cAg>cGg		zinc finger protein 518B							136	139	138					4																	10447381		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10447381T>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.572A>G	4.37:g.10447381T>C	ENSP00000317614:p.Gln191Arg		Somatic					p.Q191R	NM_053042.2	NP_444270.2	WXS	Illumina GAIIx	Phase_I	Q9C0D4	Z518B_HUMAN			3	1010	-			191					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.572A>G	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	T	9.546	1.114636	0.20795	.	.	ENSG00000178163	ENST00000326756	T	0.19105	2.17	6.16	-3.0	0.05480	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.175640	0.06278	N	0.696865	T	0.08537	0.0212	N	0.04655	-0.195	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.40720	-0.9548	10	0.09590	T	0.72	-0.4925	9.2791	0.37718	0.0:0.5176:0.1239:0.3585	.	191	Q9C0D4	Z518B_HUMAN	R	191	ENSP00000317614:Q191R	ENSP00000317614:Q191R	Q	-	2	0	ZNF518B	10056479	0.013000	0.17824	0.000000	0.03702	0.961000	0.63080	0.119000	0.15626	-0.746000	0.04766	-0.417000	0.06048	CAG		0.403	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		71	73	0	0	0	1	0	71	73					C	10447381	T	C	10447381	3	2	21	1	0	0	0	0	1	0	0	0	17978	1580	55	4	2656	4	ZNF518B	4	10447381	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	662735	10447381	180706895	179	1604										
SLC34A2	10568	broad.mit.edu	37	chr4	25675930	25675930	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcttccagatttcccctttcCctttgcatggttgactggct	7	13	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:25675930C>A	ENST00000382051.3	+	11	1279	c.1229C>A	c.(1228-1230)cCc>cAc	p.P410H	SLC34A2_ENST00000504570.1_Missense_Mutation_p.P409H|SLC34A2_ENST00000503434.1_Missense_Mutation_p.P409H	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	410					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)				TTCCCCTTTCCCTTTGCATGG	0.602			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.(1228-1230)cCc>cAc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							204	155	172					4																	25675930		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.chr4:25675930C>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.1229C>A	4.37:g.25675930C>A	ENSP00000371483:p.Pro410His		Somatic				SLC34A2_ENST00000504570.1_Missense_Mutation_p.P409H|SLC34A2_ENST00000503434.1_Missense_Mutation_p.P409H	p.P410H	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	WXS	Illumina GAIIx	Phase_I	O95436	NPT2B_HUMAN			11	1279	+		Breast(46;0.0503)	410					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.1229C>A	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225435	0.79576	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	D;D;D	0.88046	-2.33;-2.33;-2.33	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.95433	0.8517	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96165	0.9118	10	0.66056	D	0.02	-34.8044	19.0968	0.93255	0.0:1.0:0.0:0.0	.	409;410	O95436-2;O95436	.;NPT2B_HUMAN	H	409;410;409	ENSP00000425501:P409H;ENSP00000371483:P410H;ENSP00000423021:P409H	ENSP00000371483:P410H	P	+	2	0	SLC34A2	25285028	1.000000	0.71417	0.932000	0.37286	0.702000	0.40608	6.084000	0.71335	2.596000	0.87737	0.561000	0.74099	CCC		0.602	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		22	45	1	0	7.41877e-09	1	7.82003e-09	22	45					A	25675930	C	A	25675930	3	1	21	1	0	0	0	0	1	0	0	0	14583	623	22	5	1267	5	SLC34A2	4	25675930	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	15228549	25675930	165478346	180	1605										
UGT2B28	54490	broad.mit.edu	37	chr4	70156526	70156526	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaagacagtaattaatgatcCttcgtgagtagaacagtatt	9	5	0	4			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:70156526C>A	ENST00000335568.5	+	5	1309	c.1307C>A	c.(1306-1308)cCt>cAt	p.P436H	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	436					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						ATTAATGATCCTTCGTGAGTA	0.398																																						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.(1306-1308)cCt>cAt		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						111	120	117					4																	70156526		2047	4238	6285	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70156526C>A	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.1307C>A	4.37:g.70156526C>A	ENSP00000334276:p.Pro436His		Somatic				UGT2B28_ENST00000511240.1_Intron	p.P436H	NM_053039.1	NP_444267.1	WXS	Illumina GAIIx	Phase_I	Q9BY64	UDB28_HUMAN			5	1309	+			436					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.1307C>A	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	12.86	2.065275	0.36470	.	.	ENSG00000135226	ENST00000335568	T	0.64618	-0.11	1.85	1.85	0.25348	.	0.262657	0.29342	U	0.012432	T	0.82102	0.4964	H	0.96208	3.785	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	D	0.84488	0.0609	10	0.87932	D	0	.	9.3109	0.37903	0.0:1.0:0.0:0.0	.	436	Q9BY64	UDB28_HUMAN	H	436	ENSP00000334276:P436H	ENSP00000334276:P436H	P	+	2	0	UGT2B28	70191115	0.048000	0.20356	0.744000	0.31058	0.130000	0.20726	3.444000	0.52914	1.023000	0.39654	0.184000	0.17185	CCT		0.398	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		48	68	1	0	4.86159e-25	1	5.41756e-25	48	68					A	70156526	C	A	70156526	3	1	21	1	0	0	0	0	1	0	0	0	16975	681	24	5	1325	5	UGT2B28	4	70156526	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	44480596	70156526	120997750	181	1606										
AFP	174	broad.mit.edu	37	chr4	74315095	74315095	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gacatcctcagcttgctgtcTcagtaattctaagagttgct	8	10	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:74315095T>C	ENST00000395792.2	+	9	1202	c.1102T>C	c.(1102-1104)Tca>Cca	p.S368P	AFP_ENST00000226359.2_Missense_Mutation_p.S368P	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	368	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTTGCTGTCTCAGTAATTCT	0.373									Alpha-Fetoprotein, Hereditary Persistence of																													ENST00000395792.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1102-1104)Tca>Cca		alpha-fetoprotein							89	89	89					4																	74315095		2202	4300	6502	SO:0001583	missense	174	Alpha-Fetoprotein, Hereditary Persistence of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74315095T>C	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.1102T>C	4.37:g.74315095T>C	ENSP00000379138:p.Ser368Pro		Somatic				AFP_ENST00000226359.2_Missense_Mutation_p.S368P	p.S368P	NM_001134.1	NP_001125.1	WXS	Illumina GAIIx	Phase_I	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		9	1202	+	Breast(15;0.00102)		368			Albumin 2.		B2RBU3	Missense_Mutation	SNP	ENST00000395792.2	37	c.1102T>C	CCDS3556.1	.	.	.	.	.	.	.	.	.	.	T	0.170	-1.072284	0.01918	.	.	ENSG00000081051	ENST00000395792;ENST00000226359	T;T	0.72505	-0.66;-0.66	5.87	-1.64	0.08318	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.882827	0.09998	N	0.728788	T	0.38268	0.1034	N	0.02368	-0.58	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.003	T	0.16247	-1.0409	10	0.29301	T	0.29	.	3.9366	0.09309	0.2765:0.3256:0.0:0.3978	.	210;368	B4DMX4;P02771	.;FETA_HUMAN	P	368	ENSP00000379138:S368P;ENSP00000226359:S368P	ENSP00000226359:S368P	S	+	1	0	AFP	74533959	0.000000	0.05858	0.000000	0.03702	0.811000	0.45836	0.164000	0.16542	-0.619000	0.05648	-0.899000	0.02877	TCA		0.373	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			28	41	0	0	0	1	0	28	41					C	74315095	T	C	74315095	3	2	21	1	0	0	0	0	1	0	0	0	363	1551	54	4	1136	4	AFP	4	74315095	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	4158569	74315095	116839181	182	1607										
SCARB2	950	broad.mit.edu	37	chr4	77091020	77091020	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggaggaagtatgtactcacAggattaatgtccacaaatgt	10	6	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:77091020A>C	ENST00000264896.2	-	8	1462	c.1113T>G	c.(1111-1113)ccT>ccG	p.P371P	SCARB2_ENST00000452464.2_Splice_Site_p.P228P	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	371					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			ATGTACTCACAGGATTAATGT	0.393																																						ENST00000264896.2																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22						c.e8+1		scavenger receptor class B, member 2							147	140	143					4																	77091020		2203	4300	6503	SO:0001630	splice_region_variant	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77091020A>C	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.1113+1T>G	4.37:g.77091020A>C			Somatic				SCARB2_ENST00000452464.2_Splice_Site_p.P228_splice	p.P371_splice	NM_005506.3	NP_005497.1	WXS	Illumina GAIIx	Phase_I	Q14108	SCRB2_HUMAN	Lung(101;0.196)		8	1462	-			371					B4DKD8|E7EM68|Q53Y63	Splice_Site	SNP	ENST00000264896.2	37	c.1113_splice	CCDS3577.1																																																																																				0.393	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506	Silent	38	61	0	0	0	1	0	38	61					C	77091020	A	C	77091020	5	2	21	1	0	0	0	0	0	0	1	0	13897	202	7	4	343	4	SCARB2	4	77091020	Splice_Site	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	2775925	77091020	114063256	183	1608										
SEC31A	22872	broad.mit.edu	37	chr4	83788042	83788042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atactatgctgagcagtctgCtgtggaatttgtaacggagg	13	6	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:83788042C>T	ENST00000395310.2	-	10	1298	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q	SEC31A_ENST00000509142.1_Silent_p.Q372Q|SEC31A_ENST00000508479.1_Silent_p.Q372Q|SEC31A_ENST00000348405.4_Silent_p.Q372Q|SEC31A_ENST00000508502.1_Silent_p.Q372Q|SEC31A_ENST00000443462.2_Silent_p.Q367Q|SEC31A_ENST00000513858.1_Silent_p.Q372Q|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505984.1_Silent_p.Q372Q|SEC31A_ENST00000326950.5_Silent_p.Q372Q|SEC31A_ENST00000311785.7_Silent_p.Q372Q|SEC31A_ENST00000448323.1_Silent_p.Q372Q|SEC31A_ENST00000500777.2_Silent_p.Q372Q|SEC31A_ENST00000264405.5_Silent_p.Q144Q|SEC31A_ENST00000432794.1_Silent_p.Q372Q|SEC31A_ENST00000505472.1_Silent_p.Q372Q|SEC31A_ENST00000355196.2_Silent_p.Q372Q	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)	372	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)				GAGCAGTCTGCTGTGGAATTT	0.433																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(1114-1116)caG>caA		SEC31 homolog A (S. cerevisiae)							127	129	128					4																	83788042		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:83788042C>T	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.1116G>A	4.37:g.83788042C>T			Somatic				SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508479.1_Silent_p.Q372Q|SEC31A_ENST00000311785.7_Silent_p.Q372Q|SEC31A_ENST00000513858.1_Silent_p.Q372Q|SEC31A_ENST00000505472.1_Silent_p.Q372Q|SEC31A_ENST00000509142.1_Silent_p.Q372Q|SEC31A_ENST00000508502.1_Silent_p.Q372Q|SEC31A_ENST00000505984.1_Silent_p.Q372Q|SEC31A_ENST00000264405.5_Silent_p.Q144Q|SEC31A_ENST00000448323.1_Silent_p.Q372Q|SEC31A_ENST00000443462.2_Silent_p.Q367Q|SEC31A_ENST00000395310.2_Silent_p.Q372Q|SEC31A_ENST00000355196.2_Silent_p.Q372Q|SEC31A_ENST00000348405.4_Silent_p.Q372Q|SEC31A_ENST00000500777.2_Silent_p.Q372Q|SEC31A_ENST00000326950.5_Silent_p.Q372Q	p.Q372Q			WXS	Illumina GAIIx	Phase_I	O94979	SC31A_HUMAN			10	1279	-		Hepatocellular(203;0.114)	372			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	c.1116G>A	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	C	6.989	0.552569	0.13374	.	.	ENSG00000138674	ENST00000507828	.	.	.	5.06	4.22	0.49857	.	.	.	.	.	T	0.71108	0.3301	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71013	-0.4715	4	.	.	.	-2.635	15.9341	0.79688	0.0:0.8645:0.1355:0.0	.	.	.	.	T	15	.	.	A	-	1	0	SEC31A	84007066	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	3.246000	0.51414	1.246000	0.43901	0.573000	0.79308	GCA		0.433	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		70	95	0	0	0	1	0	70	95					T	83788042	C	T	83788042	2	4	21	1	0	0	0	0	0	0	0	1	14013	796	28	3		3	SEC31A	4	83788042	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	6697022	83788042	107366234	184	1609										
AGPAT9	84803	broad.mit.edu	37	chr4	84502845	84502845	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	attgtagaagatgaagtgacCcagaggttttcctcagagga	12	6	1	6			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:84502845C>T	ENST00000395226.2	+	4	557	c.339C>T	c.(337-339)acC>acT	p.T113T	AGPAT9_ENST00000264409.4_Silent_p.T113T	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	113					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)				ATGAAGTGACCCAGAGGTTTT	0.468																																						ENST00000395226.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13						c.(337-339)acC>acT		1-acylglycerol-3-phosphate O-acyltransferase 9							184	177	180					4																	84502845		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:84502845C>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.339C>T	4.37:g.84502845C>T			Somatic				AGPAT9_ENST00000264409.4_Silent_p.T113T	p.T113T	NM_001256421.1	NP_001243350.1	WXS	Illumina GAIIx	Phase_I	Q53EU6	GPAT3_HUMAN			4	557	+		Hepatocellular(203;0.114)	113					Q68CJ4|Q6GPI6|Q96NA3	Silent	SNP	ENST00000395226.2	37	c.339C>T	CCDS3606.1																																																																																				0.468	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		59	102	0	0	0	1	0	59	102					T	84502845	C	T	84502845	2	4	21	1	0	0	0	0	0	0	0	1	392	610	22	3		3	AGPAT9	4	84502845	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	714803	84502845	106651431	185	1610										
MMRN1	22915	broad.mit.edu	37	chr4	90816607	90816607	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tctaaacacagttggaggcaCtggaggcattggaggcgttg	15	7	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:90816607C>G	ENST00000394980.1	+	2	804	c.485C>G	c.(484-486)aCt>aGt	p.T162S	MMRN1_ENST00000394981.1_Missense_Mutation_p.T128S|MMRN1_ENST00000264790.2_Missense_Mutation_p.T162S			Q13201	MMRN1_HUMAN	multimerin 1	162					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)		GTtggaggcactggaggcatt	0.507																																						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.(484-486)aCt>aGt		multimerin 1							61	62	61					4																	90816607		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90816607C>G	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.485C>G	4.37:g.90816607C>G	ENSP00000378431:p.Thr162Ser		Somatic				MMRN1_ENST00000394981.1_Missense_Mutation_p.T128S|MMRN1_ENST00000264790.2_Missense_Mutation_p.T162S	p.T162S			WXS	Illumina GAIIx	Phase_I	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	2	804	+		Hepatocellular(203;0.114)	162					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.485C>G	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.010527	0.00043	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981	T;T;T	0.70631	0.21;0.21;-0.5	0.427	-0.854	0.10705	.	.	.	.	.	T	0.37919	0.1021	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	T	0.17228	-1.0376	8	0.08179	T	0.78	.	.	.	.	.	128;162	Q13201-2;Q13201	.;MMRN1_HUMAN	S	162;162;128	ENSP00000378431:T162S;ENSP00000264790:T162S;ENSP00000378432:T128S	ENSP00000264790:T162S	T	+	2	0	MMRN1	91035630	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.303000	0.08210	-1.861000	0.01153	-1.921000	0.00515	ACT		0.507	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		35	39	0	0	0	1	0	35	39					G	90816607	C	G	90816607	3	3	21	1	0	0	0	0	1	0	0	0	9679	565	20	5	487	5	MMRN1	4	90816607	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	6313762	90816607	100337669	186	1611										
ADH4	127	broad.mit.edu	37	chr4	100045604	100045604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctggcatcttcaaaagatgaGgattgttcggacgctgttaa	11	7	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:100045604G>T	ENST00000265512.7	-	9	1206	c.1132C>A	c.(1132-1134)Ctc>Atc	p.L378I	ADH4_ENST00000508393.1_Missense_Mutation_p.L397I|ADH4_ENST00000423445.1_Missense_Mutation_p.L397I|ADH4_ENST00000505590.1_Missense_Mutation_p.L397I|RP11-696N14.1_ENST00000500358.2_RNA	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	378					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)		CAAAAGATGAGGATTGTTCGG	0.323																																						ENST00000508393.1																			0				NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18						c.(1189-1191)Ctc>Atc		alcohol dehydrogenase 4 (class II), pi polypeptide	NADH(DB00157)						35	35	35					4																	100045604		2200	4298	6498	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.chr4:100045604G>T	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.1132C>A	4.37:g.100045604G>T	ENSP00000265512:p.Leu378Ile		Somatic				RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Missense_Mutation_p.L378I|ADH4_ENST00000505590.1_Missense_Mutation_p.L397I|ADH4_ENST00000423445.1_Missense_Mutation_p.L397I	p.L397I			WXS	Illumina GAIIx	Phase_I	P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	10	1354	-			378					A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	c.1189C>A	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	G	7.430	0.638518	0.14386	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590	T;T;T;T	0.03330	3.97;3.97;3.97;3.97	3.16	2.32	0.28847	GroES-like (1);	0.695556	0.11659	U	0.541994	T	0.02727	0.0082	N	0.16201	0.385	0.40545	D	0.981065	B;B	0.26845	0.048;0.161	B;B	0.38880	0.09;0.284	T	0.36986	-0.9725	10	0.02654	T	1	-2.623	6.3115	0.21166	0.1363:0.0:0.8637:0.0	.	397;378	P08319-2;P08319	.;ADH4_HUMAN	I	397;378;397;397	ENSP00000424630:L397I;ENSP00000265512:L378I;ENSP00000397939:L397I;ENSP00000425416:L397I	ENSP00000265512:L378I	L	-	1	0	ADH4	100264627	0.998000	0.40836	0.359000	0.25824	0.167000	0.22549	1.880000	0.39628	0.910000	0.36722	0.655000	0.94253	CTC		0.323	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		3	8	1	0	0.00909568	1	0.00916886	3	8					T	100045604	G	T	100045604	3	4	21	1	0	0	0	0	1	0	0	0	310	1000	35	5	14	5	ADH4	4	100045604	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	9228997	100045604	91108672	187	1612										
INTS12	57117	broad.mit.edu	37	chr4	106604358	106604360	+	In_Frame_Del	DEL	TGT	TGT	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gttgttgaactcaattttgcTgttgaaggaccagcagagga							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:106604358_106604360delTGT	ENST00000451321.2	-	7	1398_1400	c.919_921delACA	c.(919-921)acadel	p.T307del	INTS12_ENST00000340139.5_In_Frame_Del_p.T307del|INTS12_ENST00000394735.1_In_Frame_Del_p.T307del	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	307	Ser-rich.				snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TCAATTTTGCTGTTGAAGGACCA	0.458																																						ENST00000451321.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(919-921)del		integrator complex subunit 12																																				SO:0001651	inframe_deletion	57117				snRNA processing	integrator complex	protein binding|zinc ion binding	g.chr4:106604358_106604360delTGT		CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"Zinc fingers, PHD-type"	25067	protein-coding gene	gene with protein product	"hypothetical nuclear factor SBBI22"	611355	"PHD finger protein 22"	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.919_921delACA	4.37:g.106604358_106604360delTGT	ENSP00000415433:p.Thr307del		Somatic				INTS12_ENST00000394735.1_In_Frame_Del_p.T307del|INTS12_ENST00000340139.5_In_Frame_Del_p.T307del	p.T307del	NM_001142471.1	NP_001135943.1	WXS	Illumina GAIIx	Phase_I	Q96CB8	INT12_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	7	1398_1400	-			307			Ser-rich.		B2RC48|Q3B6Z3|Q9HD71	In_Frame_Del	DEL	ENST00000451321.2	37	c.919_921delACA	CCDS3671.1																																																																																				0.458	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395		42	67						42	67	---	---	---	---	-	106604360	TGT	-	106604358	7	5	21	1	0	1	0	1	0	0	0	0	7786	1567	55	0	471	0	INTS12	4	106604358	In_Frame_Del	DEL	TGT	TCGA-N7-A4Y0-01A-12D-A28R-08	6558754	106604358	84549918	188	1613										
SEC24B	10427	broad.mit.edu	37	chr4	110384778	110384778	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acaggatccctggctgtagcGaacaacaacccaaccattac	7	14	0	0	rs374995428		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:110384778G>A	ENST00000265175.5	+	2	910	c.855G>A	c.(853-855)gcG>gcA	p.A285A	SEC24B_ENST00000399100.2_Silent_p.A285A|SEC24B_ENST00000504968.2_Silent_p.A316A	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	285					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGGCTGTAGCGAACAACAACC	0.413																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(853-855)gcG>gcA		SEC24 family member B		G	,	0,4080		0,0,2040	69	70	70		855,855	0	0	4		70	1,8419		0,1,4209	no	coding-synonymous,coding-synonymous	SEC24B	NM_001042734.1,NM_006323.2	,	0,1,6249	AA,AG,GG		0.0119,0.0,0.0080	,	285/1234,285/1269	110384778	1,12499	2040	4210	6250	SO:0001819	synonymous_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110384778G>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.855G>A	4.37:g.110384778G>A			Somatic				SEC24B_ENST00000399100.2_Silent_p.A285A|SEC24B_ENST00000504968.2_Silent_p.A316A	p.A285A	NM_006323.2	NP_006314.2	WXS	Illumina GAIIx	Phase_I	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	2	910	+		Hepatocellular(203;0.217)	285					B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	c.855G>A	CCDS47124.1																																																																																				0.413	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			30	57	0	0	0	1	0	30	57					A	110384778	G	A	110384778	2	1	21	1	0	0	0	0	0	0	0	1	14010	1045	37	1		1	SEC24B	4	110384778	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3780420	110384778	80769498	189	1614										
PCDH10	57575	broad.mit.edu	37	chr4	134073201	134073201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttcgcatggactggcgcaccGgggagctgcgcacagcacgc	15	14	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:134073201G>A	ENST00000264360.5	+	1	2732	c.1906G>A	c.(1906-1908)Ggg>Agg	p.G636R	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	636	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		CTGGCGCACCGGGGAGCTGCG	0.682																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1906-1908)Ggg>Agg		protocadherin 10							31	36	34					4																	134073201		2182	4280	6462	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073201G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1906G>A	4.37:g.134073201G>A	ENSP00000264360:p.Gly636Arg		Somatic					p.G636R	NM_032961.1	NP_116586.1	WXS	Illumina GAIIx	Phase_I	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2732	+			636			Cadherin 6.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1906G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400309	0.83120	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.56941	0.43	4.29	4.29	0.51040	Cadherin (4);Cadherin-like (1);	0.000000	0.44285	D	0.000471	T	0.82167	0.4978	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89325	0.3643	10	0.87932	D	0	.	16.5313	0.84361	0.0:0.0:1.0:0.0	.	636;636	Q9P2E7;Q96SF0	PCD10_HUMAN;.	R	636	ENSP00000264360:G636R	ENSP00000264360:G636R	G	+	1	0	PCDH10	134292651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.575000	0.82447	2.207000	0.71202	0.655000	0.94253	GGG		0.682	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		43	67	0	0	0	1	0	43	67					A	134073201	G	A	134073201	3	1	21	1	0	0	0	0	1	0	0	0	11516	1116	39	1	1908	1	PCDH10	4	134073201	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	23688423	134073201	57081075	190	1615										
CLGN	1047	broad.mit.edu	37	chr4	141334145	141334145	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttctgaattttcttcaaagtCttccgtctcaacatcatcat	3	11	7	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:141334145C>A	ENST00000325617.5	-	2	528	c.88G>T	c.(88-90)Gac>Tac	p.D30Y	CLGN_ENST00000537281.1_Missense_Mutation_p.D30Y|CLGN_ENST00000414773.1_Missense_Mutation_p.D30Y	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	30					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.D30N(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)					TCTTCAAAGTCTTCCGTCTCA	0.328																																						ENST00000325617.5																			1	Substitution - Missense(1)	p.D30N(1)	lung(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.(88-90)Gac>Tac		calmegin							96	90	92					4																	141334145		2203	4299	6502	SO:0001583	missense	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141334145C>A	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.88G>T	4.37:g.141334145C>A	ENSP00000326699:p.Asp30Tyr		Somatic				CLGN_ENST00000414773.1_Missense_Mutation_p.D30Y|CLGN_ENST00000537281.1_Missense_Mutation_p.D30Y	p.D30Y	NM_004362.2	NP_004353.1	WXS	Illumina GAIIx	Phase_I	O14967	CLGN_HUMAN			2	528	-	all_hematologic(180;0.162)		30					B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	37	c.88G>T	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258090	0.39896	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000509477	T;T;T;T	0.79141	0.25;0.25;0.25;-1.24	5.3	4.46	0.54185	.	0.148142	0.64402	D	0.000012	D	0.84183	0.5416	M	0.75264	2.295	0.58432	D	0.999999	D	0.67145	0.996	P	0.61201	0.885	D	0.85059	0.0933	10	0.72032	D	0.01	-14.0116	9.0223	0.36206	0.0:0.7708:0.1499:0.0793	.	30	O14967	CLGN_HUMAN	Y	30	ENSP00000326699:D30Y;ENSP00000392782:D30Y;ENSP00000439381:D30Y;ENSP00000424593:D30Y	ENSP00000326699:D30Y	D	-	1	0	CLGN	141553595	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	1.268000	0.33062	1.384000	0.46424	-0.196000	0.12772	GAC		0.328	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		11	31	1	0	1.58986e-06	1	1.64812e-06	11	31					A	141334145	C	A	141334145	3	1	21	1	0	0	0	0	1	0	0	0	3526	913	32	2	1800	2	CLGN	4	141334145	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	7260944	141334145	49820131	191	1616										
RNF150	57484	broad.mit.edu	37	chr4	142053668	142053668	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gttggggtcgcaggccaggcGgtcgtgggccgagctggcca	20	11	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:142053668G>T	ENST00000515673.2	-	1	328	c.295C>A	c.(295-297)Cgc>Agc	p.R99S	RNF150_ENST00000420921.2_Intron|RNF150_ENST00000306799.3_Missense_Mutation_p.R99S|RNF150_ENST00000507500.1_Missense_Mutation_p.R99S			Q9ULK6	RN150_HUMAN	ring finger protein 150	99	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CAGGCCAGGCGGTCGTGGGCC	0.672																																						ENST00000306799.3																			0				breast(1)|large_intestine(10)|lung(7)|ovary(1)	19						c.(295-297)Cgc>Agc		ring finger protein 150							23	23	23					4																	142053668		2198	4294	6492	SO:0001583	missense	57484					integral to membrane	zinc ion binding	g.chr4:142053668G>T	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"RING-type (C3HC4) zinc fingers"	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.295C>A	4.37:g.142053668G>T	ENSP00000425840:p.Arg99Ser		Somatic				RNF150_ENST00000515673.1_Missense_Mutation_p.R99S|RNF150_ENST00000420921.2_Intron|RNF150_ENST00000507500.1_Missense_Mutation_p.R99S	p.R99S	NM_020724.1	NP_065775.1	WXS	Illumina GAIIx	Phase_I	Q9ULK6	RN150_HUMAN			1	948	-	all_hematologic(180;0.162)		99			PA.		Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	c.295C>A	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100271	0.56183	.	.	ENSG00000170153	ENST00000306799;ENST00000515673;ENST00000507500	T;T;T	0.05319	3.46;3.46;3.46	4.06	3.18	0.36537	Protease-associated domain, PA (1);	0.294750	0.29638	N	0.011587	T	0.15782	0.0380	L	0.58428	1.81	0.80722	D	1	D;D;D	0.60575	0.986;0.988;0.977	P;D;P	0.65010	0.753;0.931;0.84	T	0.05616	-1.0874	10	0.19590	T	0.45	.	11.1068	0.48207	0.0:0.0:0.6638:0.3361	.	99;99;99	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	S	99	ENSP00000304321:R99S;ENSP00000425840:R99S;ENSP00000425568:R99S	ENSP00000304321:R99S	R	-	1	0	RNF150	142273118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.588000	0.53964	0.792000	0.33850	0.455000	0.32223	CGC		0.672	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		3	5	1	0	1	1	1	3	5					T	142053668	G	T	142053668	3	4	21	1	0	0	0	0	1	0	0	0	13466	1116	39	5	1049	5	RNF150	4	142053668	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	719523	142053668	49100608	192	1617										
ARHGAP10	79658	broad.mit.edu	37	chr4	148984433	148984433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttctcctcctgctactgtagCggacaagccacctgaaaggt	9	13	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:148984433C>T	ENST00000336498.3	+	21	2401	c.2162C>T	c.(2161-2163)gCg>gTg	p.A721V	ARHGAP10_ENST00000414545.2_Intron	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GCTACTGTAGCGGACAAGCCA	0.532																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(2161-2163)gCg>gTg		Rho GTPase activating protein 10							112	78	90					4																	148984433		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148984433C>T	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.2162C>T	4.37:g.148984433C>T	ENSP00000336923:p.Ala721Val		Somatic				ARHGAP10_ENST00000414545.2_Intron	p.A721V	NM_024605.3	NP_078881.3	WXS	Illumina GAIIx	Phase_I	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	21	2401	+	all_hematologic(180;0.151)	Renal(17;0.0166)	721					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.2162C>T	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572470	0.28092	.	.	ENSG00000071205	ENST00000336498	T	0.08984	3.03	5.56	-8.97	0.00758	Src homology-3 domain (1);	1.822510	0.02565	N	0.097176	T	0.05227	0.0139	N	0.12746	0.255	0.09310	N	0.999997	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.20306	-1.0279	10	0.19590	T	0.45	.	16.1896	0.81977	0.0:0.7755:0.0985:0.126	.	154;302;721	Q9H7G7;Q86T21;A1A4S6	.;.;RHG10_HUMAN	V	721	ENSP00000336923:A721V	ENSP00000336923:A721V	A	+	2	0	ARHGAP10	149203883	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-3.086000	0.00611	-1.785000	0.01271	-1.300000	0.01332	GCG		0.532	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		18	29	0	0	0	1	0	18	29					T	148984433	C	T	148984433	3	4	21	1	0	0	0	0	1	0	0	0	862	768	27	1	2244	1	ARHGAP10	4	148984433	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	6930765	148984433	42169843	193	1618										
LRBA	987	broad.mit.edu	37	chr4	151749479	151749479	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaatgtctttcacattgacgTtttttgaaactgaaactgac							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:151749479delT	ENST00000357115.3	-	30	5267	c.5024delA	c.(5023-5025)aacfs	p.N1675fs	LRBA_ENST00000510413.1_Frame_Shift_Del_p.N1675fs|LRBA_ENST00000507224.1_Frame_Shift_Del_p.N1675fs|LRBA_ENST00000535741.1_Frame_Shift_Del_p.N1675fs	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1675						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)					CACATTGACGTTTTTTGAAAC	0.448																																						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.(5023-5025)acfs		LPS-responsive vesicle trafficking, beach and anchor containing							156	142	147					4																	151749479		2203	4300	6503	SO:0001589	frameshift_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151749479delT	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.5024delA	4.37:g.151749479delT	ENSP00000349629:p.Asn1675fs		Somatic				LRBA_ENST00000507224.1_Frame_Shift_Del_p.N1675fs|LRBA_ENST00000510413.1_Frame_Shift_Del_p.N1675fs|LRBA_ENST00000357115.3_Frame_Shift_Del_p.N1675fs	p.N1675fs			WXS	Illumina GAIIx	Phase_I	P50851	LRBA_HUMAN			30	5497	-	all_hematologic(180;0.151)		1675					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Frame_Shift_Del	DEL	ENST00000357115.3	37	c.5024delA	CCDS3773.1																																																																																				0.448	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			30	67						30	67	---	---	---	---	-	151749479	T	-	151749479	7	5	21	1	0	1	0	1	0	0	0	0	8940	1725	60	0	3683	0	LRBA	4	151749479	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2765046	151749479	39404797	194	1619										
FHDC1	85462	broad.mit.edu	37	chr4	153864220	153864220	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caacagtactatgcatgttaTgaattgtgtctccttggtca	8	8	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:153864220T>G	ENST00000511601.1	+	2	199	c.11T>G	c.(10-12)aTg>aGg	p.M4R	FHDC1_ENST00000260008.3_Missense_Mutation_p.M4R			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	4									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ATGCATGTTATGAATTGTGTC	0.448																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(10-12)aTg>aGg		FH2 domain containing 1							109	102	104					4																	153864220		2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153864220T>G	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.11T>G	4.37:g.153864220T>G	ENSP00000427567:p.Met4Arg		Somatic				FHDC1_ENST00000260008.3_Missense_Mutation_p.M4R	p.M4R			WXS	Illumina GAIIx	Phase_I	Q9C0D6	FHDC1_HUMAN			2	199	+	all_hematologic(180;0.093)		4						Missense_Mutation	SNP	ENST00000511601.1	37	c.11T>G	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	t	17.24	3.340601	0.60963	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.41400	1.0;1.0	5.48	5.48	0.80851	.	0.199562	0.43919	D	0.000517	T	0.56202	0.1969	L	0.52364	1.645	0.58432	D	0.999991	D	0.71674	0.998	P	0.62014	0.897	T	0.56469	-0.7974	10	0.49607	T	0.09	.	15.563	0.76266	0.0:0.0:0.0:1.0	.	4	Q9C0D6	FHDC1_HUMAN	R	4	ENSP00000427567:M4R;ENSP00000260008:M4R	ENSP00000260008:M4R	M	+	2	0	FHDC1	154083670	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.218000	0.58554	2.086000	0.62901	0.378000	0.23410	ATG		0.448	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		37	32	0	0	0	1	0	37	32					G	153864220	T	G	153864220	3	3	21	1	0	0	0	0	1	0	0	0	5884	1464	51	4	13	4	FHDC1	4	153864220	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2114741	153864220	37290056	195	1620										
FBXO8	26269	broad.mit.edu	37	chr4	175160263	175160263	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcaggggcatggatatgacgAaaaaattctctcagtgcatt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:175160263delA	ENST00000393674.2	-	5	1516	c.654delT	c.(652-654)tttfs	p.F218fs	FBXO8_ENST00000503293.1_Frame_Shift_Del_p.F177fs	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	218	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		GGATATGACGAAAAAATTCTC	0.388																																						ENST00000393674.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(652-654)ttfs		F-box protein 8							77	79	78					4																	175160263		2203	4300	6503	SO:0001589	frameshift_variant	26269				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	g.chr4:175160263delA	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"F-boxes /  "other""	13587	protein-coding gene	gene with protein product		605649	"F-box only protein 8"			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.654delT	4.37:g.175160263delA	ENSP00000377280:p.Phe218fs		Somatic				FBXO8_ENST00000503293.1_Frame_Shift_Del_p.F177fs	p.F218fs	NM_012180.2	NP_036312.2	WXS	Illumina GAIIx	Phase_I	Q9NRD0	FBX8_HUMAN		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	5	1516	-		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	218			SEC7.		B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Frame_Shift_Del	DEL	ENST00000393674.2	37	c.654delT	CCDS3820.1																																																																																				0.388	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180		24	35						24	35	---	---	---	---	-	175160263	A	-	175160263	7	5	21	1	0	1	0	1	0	0	0	0	5769	243	9	0	313	0	FBXO8	4	175160263	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	21296043	175160263	15994013	196	1621										
SORBS2	8470	broad.mit.edu	37	chr4	186567832	186567832	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aagtgcttactggtctttcaTgctgaagaattgatgacttg	10	6	2	4			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:186567832T>C	ENST00000284776.7	-	10	1183	c.674A>G	c.(673-675)cAt>cGt	p.H225R	SORBS2_ENST00000437304.2_Missense_Mutation_p.H404R|SORBS2_ENST00000393528.3_Missense_Mutation_p.H271R|SORBS2_ENST00000431808.1_Missense_Mutation_p.H225R|SORBS2_ENST00000355634.5_Missense_Mutation_p.H325R|SORBS2_ENST00000449407.2_Missense_Mutation_p.H296R|SORBS2_ENST00000319471.9_Missense_Mutation_p.H311R|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000418609.1_Missense_Mutation_p.H129R|SORBS2_ENST00000448662.2_Missense_Mutation_p.H294R	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	225					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TGGTCTTTCATGCTGAAGAAT	0.438																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(673-675)cAt>cGt		sorbin and SH3 domain containing 2							104	101	102					4																	186567832		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186567832T>C		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.674A>G	4.37:g.186567832T>C	ENSP00000284776:p.His225Arg		Somatic				SORBS2_ENST00000449407.2_Missense_Mutation_p.H296R|SORBS2_ENST00000448662.2_Missense_Mutation_p.H294R|SORBS2_ENST00000437304.2_Missense_Mutation_p.H404R|SORBS2_ENST00000418609.1_Missense_Mutation_p.H129R|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000393528.3_Missense_Mutation_p.H271R|SORBS2_ENST00000355634.5_Missense_Mutation_p.H325R|SORBS2_ENST00000319471.9_Missense_Mutation_p.H311R|SORBS2_ENST00000284776.7_Missense_Mutation_p.H225R	p.H225R			WXS	Illumina GAIIx	Phase_I	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	11	1237	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	225					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.674A>G	CCDS3845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.71|19.71	3.879110|3.879110	0.72294|0.72294	.|.	.|.	ENSG00000154556|ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000451974|ENST00000445625	T;T;T;T;T;T;T;T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.047111|.	0.85682|.	D|.	0.000000|.	T|T	0.63721|0.63721	0.2535|0.2535	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999997|0.999997	P;D;D;P;B;D;D;D;P;P;B;D;P;D;D;D|.	0.71674|.	0.885;0.99;0.991;0.773;0.042;0.968;0.997;0.99;0.948;0.749;0.005;0.99;0.93;0.998;0.984;0.984|.	P;D;P;B;B;P;D;D;P;B;B;D;P;D;D;P|.	0.78314|.	0.546;0.987;0.824;0.423;0.071;0.748;0.991;0.987;0.597;0.269;0.006;0.962;0.474;0.969;0.922;0.885|.	T|T	0.61501|0.61501	-0.7050|-0.7050	10|5	0.59425|.	D|.	0.04|.	-24.7863|-24.7863	15.324|15.324	0.74144|0.74144	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	288;271;294;129;144;144;129;271;325;225;296;404;294;271;225;271|.	B7Z3D7;G3XAI0;C9JKV9;B7Z3X6;B7Z997;O94875-6;B3KPU4;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2|.	.;.;.;.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.|.	R|V	225;294;225;129;404;311;296;325;271;271;82|123	ENSP00000284776:H225R;ENSP00000409158:H294R;ENSP00000411764:H225R;ENSP00000397482:H129R;ENSP00000396008:H404R;ENSP00000322182:H311R;ENSP00000397262:H296R;ENSP00000347852:H325R;ENSP00000377162:H271R;ENSP00000321983:H271R;ENSP00000401818:H82R|.	ENSP00000284776:H225R|.	H|M	-|-	2|1	0|0	SORBS2|SORBS2	186804826|186804826	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.420000|7.420000	0.80191|0.80191	2.197000|2.197000	0.70478|0.70478	0.533000|0.533000	0.62120|0.62120	CAT|ATG		0.438	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		29	33	0	0	0	1	0	29	33					C	186567832	T	C	186567832	3	2	21	1	0	0	0	0	1	0	0	0	14943	1464	51	4	2988	4	SORBS2	4	186567832	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	11407569	186567832	4586444	197	1622										
KLKB1	3818	broad.mit.edu	37	chr4	187159508	187159508	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctcactgaagccctgtgcccTttcagaaattggtaattgta	8	10	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:187159508T>C	ENST00000264690.6	+	6	774	c.587T>C	c.(586-588)cTt>cCt	p.L196P	KLKB1_ENST00000513864.1_Missense_Mutation_p.L196P	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	196					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)		CCCTGTGCCCTTTCAGAAATT	0.498																																						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.(586-588)cTt>cCt		kallikrein B, plasma (Fletcher factor) 1							102	93	96					4																	187159508		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187159508T>C	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.587T>C	4.37:g.187159508T>C	ENSP00000264690:p.Leu196Pro		Somatic				KLKB1_ENST00000513864.1_Missense_Mutation_p.L196P	p.L196P	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)	6	774	+		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)	196					A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.587T>C	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.90|15.90	2.968992|2.968992	0.53614|0.53614	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	.|D;D	.|0.88354	.|-2.37;-2.32	4.97|4.97	-0.688|-0.688	0.11317|0.11317	.|.	.|0.649809	.|0.14390	.|N	.|0.322590	D|D	0.89746|0.89746	0.6804|0.6804	L|L	0.55213|0.55213	1.73|1.73	0.30646|0.30646	N|N	0.755933|0.755933	.|D;P	.|0.69078	.|0.997;0.938	.|D;P	.|0.62955	.|0.909;0.548	D|D	0.84444|0.84444	0.0584|0.0584	5|10	.|0.66056	.|D	.|0.02	.|.	6.295|6.295	0.21081|0.21081	0.2492:0.0:0.3183:0.4326|0.2492:0.0:0.3183:0.4326	.|.	.|158;196	.|E7EQA8;P03952	.|.;KLKB1_HUMAN	L|P	244|196;196;158	.|ENSP00000264690:L196P;ENSP00000424469:L196P	.|ENSP00000264690:L196P	F|L	+|+	1|2	0|0	KLKB1|KLKB1	187396502|187396502	0.001000|0.001000	0.12720|0.12720	0.232000|0.232000	0.24009|0.24009	0.982000|0.982000	0.71751|0.71751	-0.427000|-0.427000	0.06999|0.06999	-0.207000|-0.207000	0.10187|0.10187	0.528000|0.528000	0.53228|0.53228	TTT|CTT		0.498	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		32	45	0	0	0	1	0	32	45					C	187159508	T	C	187159508	3	2	21	1	0	0	0	0	1	0	0	0	8421	1609	56	4	605	4	KLKB1	4	187159508	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	591676	187159508	3994768	198	1623										
PLEKHG4B	153478	broad.mit.edu	37	chr5	155041	155041	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acaaatttgttgacagctgcCagctgaccgcagacctcgac	9	13	0	3	rs373010753		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:155041C>T	ENST00000283426.6	+	6	1026	c.976C>T	c.(976-978)Cag>Tag	p.Q326*		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	326							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)		TGACAGCTGCCAGCTGACCGC	0.577																																						ENST00000283426.6																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(976-978)Cag>Tag		pleckstrin homology domain containing, family G (with RhoGef domain) member 4B		C	stop/GLN	1,4405		0,1,2202	94	82	86		976	3.9	1	5		86	0,8600		0,0,4300	no	stop-gained	PLEKHG4B	NM_052909.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		326/1272	155041	1,13005	2203	4300	6503	SO:0001587	stop_gained	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:155041C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.976C>T	5.37:g.155041C>T	ENSP00000283426:p.Gln326*		Somatic					p.Q326*	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)	6	1026	+			326						Nonsense_Mutation	SNP	ENST00000283426.6	37	c.976C>T	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	14.44	2.534703	0.45073	2.27E-4	0.0	ENSG00000153404	ENST00000283426;ENST00000502646	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.4184	0.49967	0.0:1.0:0.0:0.0	.	.	.	.	X	326;240	.	ENSP00000283426:Q326X	Q	+	1	0	PLEKHG4B	208041	0.997000	0.39634	0.990000	0.47175	0.129000	0.20672	4.607000	0.61133	1.717000	0.51406	0.460000	0.39030	CAG		0.577	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		36	39	0	0	0	1	0	36	39					T	155041	C	T	155041	4	4	21	1	0	0	0	0	0	1	0	0	12081	595	21	3	998	3	PLEKHG4B	5	155041	Nonsense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08		155041	180760219	199	1624										
SLC9A3	6550	broad.mit.edu	37	chr5	476346	476346	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggcacgctcccgcttgtacaGcttggccgccttcttgttct	10	15	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:476346G>A	ENST00000264938.3	-	13	2047	c.2038C>T	c.(2038-2040)Ctg>Ttg	p.L680L	CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.L671L|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	680					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)			CGCTTGTACAGCTTGGCCGCC	0.647																																						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.(2038-2040)Ctg>Ttg		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							57	56	56					5																	476346		2202	4300	6502	SO:0001819	synonymous_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:476346G>A		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.2038C>T	5.37:g.476346G>A			Somatic				CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.L671L|CTD-2228K2.7_ENST00000607286.1_RNA	p.L680L	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)		13	2047	-			680					B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	c.2038C>T	CCDS3855.1																																																																																				0.647	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		18	46	0	0	0	1	0	18	46					A	476346	G	A	476346	2	1	21	1	0	0	0	0	0	0	0	1	14728	962	34	3		3	SLC9A3	5	476346	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	321305	476346	180438914	200	1625										
RXFP3	51289	broad.mit.edu	37	chr5	33937225	33937225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgtcaccaacctggcgctgaCggactttcagtttgtgctca	10	13	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:33937225C>T	ENST00000330120.3	+	1	735	c.380C>T	c.(379-381)aCg>aTg	p.T127M		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	127					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CTGGCGCTGACGGACTTTCAG	0.572																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(379-381)aCg>aTg		relaxin/insulin-like family peptide receptor 3							139	128	132					5																	33937225		2203	4300	6503	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937225C>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"GPCR / Class A : Relaxin family peptide receptors"	24883	protein-coding gene	gene with protein product		609445	"relaxin 3 receptor 1", "relaxin family peptide receptor 3"	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.380C>T	5.37:g.33937225C>T	ENSP00000328708:p.Thr127Met		Somatic					p.T127M	NM_016568.3	NP_057652.1	WXS	Illumina GAIIx	Phase_I	Q9NSD7	RL3R1_HUMAN			1	735	+			127					Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.380C>T	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649007	0.87958	.	.	ENSG00000182631	ENST00000330120	T	0.73575	-0.76	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90424	0.7002	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92222	0.5785	10	0.87932	D	0	-31.0574	19.8764	0.96873	0.0:1.0:0.0:0.0	.	127	Q9NSD7	RL3R1_HUMAN	M	127	ENSP00000328708:T127M	ENSP00000328708:T127M	T	+	2	0	RXFP3	33972982	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	6.016000	0.70798	2.700000	0.92200	0.650000	0.86243	ACG		0.572	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		54	89	0	0	0	1	0	54	89					T	33937225	C	T	33937225	3	4	21	1	0	0	0	0	1	0	0	0	13776	536	19	1	382	1	RXFP3	5	33937225	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	33460879	33937225	146978035	201	1626										
DAB2	1601	broad.mit.edu	37	chr5	39383336	39383336	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aattctgattggtgtcgattTcagagtttagatccactaac	8	7	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:39383336T>C	ENST00000320816.6	-	10	1192	c.725A>G	c.(724-726)gAa>gGa	p.E242G	DAB2_ENST00000509337.1_Missense_Mutation_p.E221G|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000545653.1_Missense_Mutation_p.E221G	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	242	Required for localization to clathrin- coated pits. {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)			GGTGTCGATTTCAGAGTTTAG	0.383																																						ENST00000320816.6																			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.(724-726)gAa>gGa		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							119	131	127					5																	39383336		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.chr5:39383336T>C	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.725A>G	5.37:g.39383336T>C	ENSP00000313391:p.Glu242Gly		Somatic				DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Missense_Mutation_p.E221G|DAB2_ENST00000509337.1_Missense_Mutation_p.E221G	p.E242G	NM_001343.3	NP_001334.2	WXS	Illumina GAIIx	Phase_I	P98082	DAB2_HUMAN	Epithelial(62;0.137)		10	1192	-	all_lung(31;0.000197)		242					A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.725A>G	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.580376	0.65992	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	T;T;T	0.50277	1.04;0.75;0.75	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.66848	0.2831	M	0.64997	1.995	0.49483	D	0.999796	D;D	0.89917	0.999;1.0	D;D	0.91635	0.964;0.999	T	0.68652	-0.5352	10	0.62326	D	0.03	-21.5453	16.068	0.80903	0.0:0.0:0.0:1.0	.	242;221	P98082;P98082-3	DAB2_HUMAN;.	G	242;221;221	ENSP00000313391:E242G;ENSP00000439919:E221G;ENSP00000426245:E221G	ENSP00000313391:E242G	E	-	2	0	DAB2	39419093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.699000	0.61796	2.326000	0.78906	0.533000	0.62120	GAA		0.383	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		49	70	0	0	0	1	0	49	70					C	39383336	T	C	39383336	3	2	21	1	0	0	0	0	1	0	0	0	4220	1783	62	4	1607	4	DAB2	5	39383336	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	5446111	39383336	141531924	202	1627										
C7	730	broad.mit.edu	37	chr5	40964971	40964971	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cttgttggggaaatgcattgTcagagtgagtggcgtcagtt	15	5	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:40964971T>A	ENST00000313164.9	+	14	2237	c.1878T>A	c.(1876-1878)tgT>tgA	p.C626*		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	626	CCP 2.|Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)				AAATGCATTGTCAGAGTGAGT	0.398																																						ENST00000313164.9																			0											c.(1876-1878)tgT>tgA		complement component 7							149	148	148					5																	40964971		1986	4162	6148	SO:0001587	stop_gained	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40964971T>A	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.1878T>A	5.37:g.40964971T>A	ENSP00000322061:p.Cys626*		Somatic					p.C626*	NM_000587.2	NP_000578.2	WXS	Illumina GAIIx	Phase_I	P10643	CO7_HUMAN			14	2237	+		Ovarian(839;0.0112)	626			Sushi 1.		Q6P3T5|Q92489	Nonsense_Mutation	SNP	ENST00000313164.9	37	c.1878T>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	T	43	10.502791	0.99417	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	.	.	.	6.04	3.71	0.42584	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.2285	4.5287	0.11994	0.0:0.4301:0.0:0.5699	.	.	.	.	X	626;466	.	ENSP00000322061:C626X	C	+	3	2	C7	41000728	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.296000	0.51802	1.115000	0.41800	0.460000	0.39030	TGT		0.398	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			59	98	0	0	0	1	0	59	98					A	40964971	T	A	40964971	4	1	21	1	0	0	0	0	0	1	0	0	2377	1673	58	4	1932	4	C7	5	40964971	Nonsense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1581635	40964971	139950289	203	1628										
DHX29	54505	broad.mit.edu	37	chr5	54570837	54570837	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cagtctgaactgggatgtatTcctaaaagaaatccaaccag	8	9	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:54570837T>C	ENST00000251636.5	-	15	2577	c.2429A>G	c.(2428-2430)gAa>gGa	p.E810G	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	810						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)				TGGGATGTATTCCTAAAAGAA	0.358																																						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.e15-1		DEAH (Asp-Glu-Ala-His) box polypeptide 29							60	61	60					5																	54570837		2203	4300	6503	SO:0001630	splice_region_variant	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54570837T>C	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.2428-1A>G	5.37:g.54570837T>C			Somatic				RP11-506H20.1_ENST00000506435.1_RNA	p.E810_splice	NM_019030.2	NP_061903.2	WXS	Illumina GAIIx	Phase_I	Q7Z478	DHX29_HUMAN			15	2577	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	810					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Splice_Site	SNP	ENST00000251636.5	37	c.2427_splice	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938511	0.73557	.	.	ENSG00000067248	ENST00000251636	T	0.15139	2.45	5.1	5.1	0.69264	.	0.045968	0.85682	D	0.000000	T	0.30572	0.0769	M	0.80183	2.485	0.58432	D	0.999999	P	0.48998	0.918	P	0.46885	0.53	T	0.12502	-1.0545	10	0.39692	T	0.17	.	15.1882	0.73023	0.0:0.0:0.0:1.0	.	810	Q7Z478	DHX29_HUMAN	G	810	ENSP00000251636:E810G	ENSP00000251636:E810G	E	-	2	0	DHX29	54606594	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.780000	0.62382	2.054000	0.61138	0.460000	0.39030	GAA		0.358	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030	Missense_Mutation	38	27	0	0	0	1	0	38	27					C	54570837	T	C	54570837	5	2	21	1	0	0	0	0	0	0	1	0	4505	1797	62	4	1732	4	DHX29	5	54570837	Splice_Site	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	13605866	54570837	126344423	204	1629										
PDE4D	5144	broad.mit.edu	37	chr5	58476445	58476445	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tatggtggctttgttgatggAtggttggttgcacatgggtg	17	3	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:58476445A>T	ENST00000340635.6	-	5	959	c.784T>A	c.(784-786)Tcc>Acc	p.S262T	PDE4D_ENST00000502484.2_Missense_Mutation_p.S201T|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000360047.5_Missense_Mutation_p.S126T|PDE4D_ENST00000546160.1_Missense_Mutation_p.S201T|PDE4D_ENST00000405755.2_Missense_Mutation_p.S140T|PDE4D_ENST00000502575.1_Missense_Mutation_p.S198T|PDE4D_ENST00000503258.1_Missense_Mutation_p.S132T|PDE4D_ENST00000507116.1_Missense_Mutation_p.S198T	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	262					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TTGTTGATGGATGGTTGGTTG	0.398																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(784-786)Tcc>Acc		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						165	150	155					5																	58476445		1877	4112	5989	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58476445A>T		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.784T>A	5.37:g.58476445A>T	ENSP00000345502:p.Ser262Thr		Somatic				PDE4D_ENST00000546160.1_Missense_Mutation_p.S201T|PDE4D_ENST00000507116.1_Missense_Mutation_p.S198T|PDE4D_ENST00000405755.2_Missense_Mutation_p.S140T|PDE4D_ENST00000360047.5_Missense_Mutation_p.S126T|PDE4D_ENST00000502575.1_Missense_Mutation_p.S198T|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000503258.1_Missense_Mutation_p.S132T|PDE4D_ENST00000502484.2_Missense_Mutation_p.S201T	p.S262T	NM_001104631.1	NP_001098101.1	WXS	Illumina GAIIx	Phase_I	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	5	959	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	262					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.784T>A	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159086	0.38119	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000502575	T;T;T;T;T;T;T;T	0.80824	-0.16;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-1.42	5.74	5.74	0.90152	.	1.515320	0.03473	N	0.213930	D	0.84202	0.5420	N	0.16656	0.425	0.40839	D	0.983652	B;P;P;P;B;B;B;B	0.52577	0.341;0.93;0.954;0.924;0.187;0.27;0.27;0.065	B;P;D;P;B;B;B;B	0.63597	0.116;0.774;0.916;0.827;0.051;0.208;0.221;0.025	T	0.69720	-0.5069	10	0.35671	T	0.21	.	15.0089	0.71533	1.0:0.0:0.0:0.0	.	142;198;201;262;198;125;140;132	Q9HCX6;Q08499-12;Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10	.;.;.;PDE4D_HUMAN;.;.;.;.	T	262;131;126;198;132;140;201;201;198	ENSP00000345502:S262T;ENSP00000353152:S126T;ENSP00000424852:S198T;ENSP00000425605:S132T;ENSP00000384806:S140T;ENSP00000423094:S201T;ENSP00000442734:S201T;ENSP00000425917:S198T	ENSP00000308485:S198T	S	-	1	0	PDE4D	58512202	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.643000	0.54374	2.192000	0.70111	0.383000	0.25322	TCC		0.398	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			11	19	0	0	0	1	0	11	19					T	58476445	A	T	58476445	3	4	21	1	0	0	0	0	1	0	0	0	11651	333	12	4	1689	4	PDE4D	5	58476445	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	3905608	58476445	122438815	205	1630										
VCAN	1462	broad.mit.edu	37	chr5	82837257	82837257	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atattacactgatacaacatTagcagtttcaacatttgcga	5	8	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:82837257T>C	ENST00000265077.3	+	8	9000	c.8435T>C	c.(8434-8436)tTa>tCa	p.L2812S	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.L1825S|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2812	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)	GATACAACATTAGCAGTTTCA	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.(8434-8436)tTa>tCa		versican							144	136	139					5																	82837257		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.chr5:82837257T>C	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.8435T>C	5.37:g.82837257T>C	ENSP00000265077:p.Leu2812Ser		Somatic				VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.L1825S	p.L2812S	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	9000	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2812			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.8435T>C	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	9.383	1.073442	0.20147	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	D;D	0.83163	-1.65;-1.69	5.55	-0.995	0.10222	.	1.924520	0.02145	N	0.057492	T	0.46946	0.1419	N	0.00119	-2.075	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.61486	-0.7053	10	0.02654	T	1	.	9.1238	0.36803	0.0:0.4629:0.0:0.5371	.	1825;2812	P13611-2;P13611	.;CSPG2_HUMAN	S	2812;1825	ENSP00000265077:L2812S;ENSP00000340062:L1825S	ENSP00000265077:L2812S	L	+	2	0	VCAN	82873013	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.208000	0.09371	-0.129000	0.11620	-0.959000	0.02639	TTA		0.458	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		88	77	0	0	0	1	0	88	77					C	82837257	T	C	82837257	3	2	21	1	0	0	0	0	1	0	0	0	17153	1764	61	4	8461	4	VCAN	5	82837257	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	24360812	82837257	98078003	206	1631										
EDIL3	10085	broad.mit.edu	37	chr5	83239262	83239262	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcctcctctgtgcagcccagCagctctgaccgcaatgtgat	9	15	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:83239262C>A	ENST00000296591.5	-	11	1837	c.1419G>T	c.(1417-1419)ctG>ctT	p.L473L	EDIL3_ENST00000380138.3_Silent_p.L463L	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	473	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGCAGCCCAGCAGCTCTGACC	0.483																																						ENST00000296591.5																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.(1417-1419)ctG>ctT		EGF-like repeats and discoidin I-like domains 3							138	125	129					5																	83239262		2203	4300	6503	SO:0001819	synonymous_variant	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83239262C>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.1419G>T	5.37:g.83239262C>A			Somatic				EDIL3_ENST00000380138.3_Silent_p.L463L	p.L473L	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)	11	1837	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	473			F5/8 type C 2.		B2R763|O43855|Q5D094|Q8N610	Silent	SNP	ENST00000296591.5	37	c.1419G>T	CCDS4062.1																																																																																				0.483	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		25	50	1	0	4.4004e-07	1	4.57246e-07	25	50					A	83239262	C	A	83239262	2	1	21	1	0	0	0	0	0	0	0	1	4917	697	25	5		5	EDIL3	5	83239262	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	402005	83239262	97675998	207	1632										
NR2F1	7025	broad.mit.edu	37	chr5	92929320	92929320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gagagcctgcaggagaagtcGcagtgcgcactggaggagta	17	8	0	2	rs142689077		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:92929320G>A	ENST00000327111.3	+	3	2731	c.1044G>A	c.(1042-1044)tcG>tcA	p.S348S	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	348					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)			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)		AGGAGAAGTCGCAGTGCGCAC	0.647													G|||	1	0.000199681	0	0	5008	,	,		11920	0		0.001	False		,,,				2504	0					ENST00000327111.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(1042-1044)tcG>tcA		nuclear receptor subfamily 2, group F, member 1		G		0,4406		0,0,2203	70	76	74		1044	-6.7	0.9	5	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NR2F1	NM_005654.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		348/424	92929320	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:92929320G>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.1044G>A	5.37:g.92929320G>A			Somatic				NR2F1_ENST00000506162.1_3'UTR	p.S348S	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)	3	2731	+		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)	348						Silent	SNP	ENST00000327111.3	37	c.1044G>A	CCDS4068.1																																																																																				0.647	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		69	110	0	0	0	1	0	69	110					A	92929320	G	A	92929320	2	1	21	1	0	0	0	0	0	0	0	1	10636	1074	38	1		1	NR2F1	5	92929320	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	9690058	92929320	87985940	208	1633										
SLCO4C1	353189	broad.mit.edu	37	chr5	101627312	101627313	+	Splice_Site	INS	-	-	A													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggccattaactacaatacctINSaaaaaacagaaaagttgatg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:101627312_101627313insA	ENST00000310954.6	-	2	642		c.e2-2			NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CTACAATACCTAAAAAACAGAA	0.312																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.e2-2		solute carrier organic anion transporter family, member 4C1																																				SO:0001630	splice_region_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101627312_101627313insA	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.356-2->T	5.37:g.101627318_101627318dupA			Somatic						NM_180991.4	NP_851322.3	WXS	Illumina GAIIx	Phase_I	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	2	642	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)							Splice_Site	INS	ENST00000310954.6	37		CCDS34205.1																																																																																				0.312	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	Intron	18	28						18	28	---	---	---	---	A	101627313	-	A	101627312	8	5	21	1	0	1	1	0	0	0	1	0	14745	1536	53	0	1868	0	SLCO4C1	5	101627312	Splice_Site	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	8697992	101627312	79287948	209	1634										
FER	2241	broad.mit.edu	37	chr5	108203563	108203563	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tattggcgttgaaaggggcaCagctccatcagaatcagtat	11	8	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:108203563C>T	ENST00000281092.4	+	6	961	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	FER_ENST00000438717.2_Nonsense_Mutation_p.Q18*|FER_ENST00000536402.1_Nonsense_Mutation_p.Q193*	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	193	Important for interaction with membranes containing phosphoinositides.				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)		GAAAGGGGCACAGCTCCATCA	0.403																																					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.(577-579)Cag>Tag		fer (fps/fes related) tyrosine kinase							164	130	141					5																	108203563		2202	4300	6502	SO:0001587	stop_gained	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108203563C>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.577C>T	5.37:g.108203563C>T	ENSP00000281092:p.Gln193*		Somatic				FER_ENST00000438717.2_Nonsense_Mutation_p.Q18*|FER_ENST00000536402.1_Nonsense_Mutation_p.Q193*	p.Q193*	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)	6	961	+		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)	193			Important for interaction with membranes containing phosphoinositides.		B2RCR4|B4DSQ2|H2FLB8	Nonsense_Mutation	SNP	ENST00000281092.4	37	c.577C>T	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	40	7.955750	0.98580	.	.	ENSG00000151422	ENST00000281092;ENST00000536402;ENST00000438717	.	.	.	5.53	5.53	0.82687	.	0.162254	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-12.8252	19.8293	0.96628	0.0:1.0:0.0:0.0	.	.	.	.	X	193;193;18	.	ENSP00000281092:Q193X	Q	+	1	0	FER	108231462	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.561000	0.67339	2.749000	0.94314	0.655000	0.94253	CAG		0.403	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		17	41	0	0	0	1	0	17	41					T	108203563	C	T	108203563	4	4	21	1	0	0	0	0	0	1	0	0	5821	479	17	3	591	3	FER	5	108203563	Nonsense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	6576251	108203563	72711697	210	1635										
MCC	4163	broad.mit.edu	37	chr5	112824031	112824031	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtgctggacgtgtcgctgctGctgctgctgctgccgctgcc	15	14	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:112824031G>A	ENST00000408903.3	-	1	496	c.81C>T	c.(79-81)agC>agT	p.S27S		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGTcgctgctgctgctgctgc	0.741																																						ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(79-81)agC>agT		mutated in colorectal cancers							11	15	14					5																	112824031		1996	4143	6139	SO:0001819	synonymous_variant	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824031G>A		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.81C>T	5.37:g.112824031G>A			Somatic					p.S27S	NM_001085377.1	NP_001078846.1	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)	1	496	-		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)	555					D3DT05|Q6ZR04	Silent	SNP	ENST00000408903.3	37	c.81C>T	CCDS43351.1																																																																																				0.741	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		24	10	0	0	0	1	0	24	10					A	112824031	G	A	112824031	2	1	21	1	0	0	0	0	0	0	0	1	9382	1310	46	3		3	MCC	5	112824031	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	4620468	112824031	68091229	211	1636										
SEMA6A	57556	broad.mit.edu	37	chr5	115783143	115783143	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gactctggggtggggagggcCgtcaggtccaggtggtgctg	21	8	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:115783143C>T	ENST00000343348.6	-	19	3046	c.2259G>A	c.(2257-2259)acG>acA	p.T753T	SEMA6A_ENST00000503865.1_Silent_p.T132T|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000282394.6_Silent_p.T230T|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.T770T|SEMA6A_ENST00000513137.1_Silent_p.T180T|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.T753T	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	753					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)		TGGGGAGGGCCGTCAGGTCCA	0.632																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2257-2259)acG>acA		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							108	121	117					5																	115783143		2180	4266	6446	SO:0001819	synonymous_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115783143C>T	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2259G>A	5.37:g.115783143C>T			Somatic				SEMA6A_ENST00000513137.1_Silent_p.T180T|SEMA6A_ENST00000282394.6_Silent_p.T230T|SEMA6A_ENST00000510263.1_Silent_p.T753T|SEMA6A_ENST00000503865.1_Silent_p.T132T|SEMA6A_ENST00000257414.8_Silent_p.T770T	p.T753T	NM_020796.3	NP_065847.1	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)	19	3046	-		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)	753					Q9P2H9	Silent	SNP	ENST00000343348.6	37	c.2259G>A	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	C	1.903	-0.452601	0.04540	.	.	ENSG00000092421	ENST00000515129	.	.	.	5.2	-8.36	0.00980	.	.	.	.	.	T	0.45538	0.1347	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50533	-0.8817	4	.	.	.	.	6.4066	0.21668	0.0867:0.236:0.4581:0.2192	.	.	.	.	Q	268	.	.	R	-	2	0	SEMA6A	115811042	0.001000	0.12720	0.264000	0.24511	0.777000	0.43975	-1.591000	0.02100	-1.818000	0.01218	-0.810000	0.03169	CGG		0.632	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		172	144	0	0	0	1	0	172	144					T	115783143	C	T	115783143	2	4	21	1	0	0	0	0	0	0	0	1	14054	639	23	1		1	SEMA6A	5	115783143	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2959112	115783143	65132117	212	1637										
SNX2	6643	broad.mit.edu	37	chr5	122165305	122165305	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	attcacagctgataaaatacTgggaagcattcctacctgaa	7	9	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:122165305T>C	ENST00000379516.2	+	15	1630	c.1522T>C	c.(1522-1524)Tgg>Cgg	p.W508R	SNX2_ENST00000510372.1_3'UTR|CTB-36H16.2_ENST00000565823.1_RNA|SNX2_ENST00000514949.1_Missense_Mutation_p.W391R	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	508					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		GATAAAATACTGGGAAGCATT	0.343																																						ENST00000379516.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19						c.(1522-1524)Tgg>Cgg		sorting nexin 2							98	100	100					5																	122165305		2203	4300	6503	SO:0001583	missense	6643				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr5:122165305T>C	AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"Sorting nexins"	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.1522T>C	5.37:g.122165305T>C	ENSP00000368831:p.Trp508Arg		Somatic				SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.W391R	p.W508R	NM_003100.2	NP_003091.2	WXS	Illumina GAIIx	Phase_I	O60749	SNX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)	15	1630	+		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	508					B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Missense_Mutation	SNP	ENST00000379516.2	37	c.1522T>C	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045767	0.75846	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	T;T	0.62498	0.02;0.02	5.77	5.77	0.91146	Vps5 C-terminal (1);	0.111715	0.64402	D	0.000003	D	0.83041	0.5168	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86754	0.1962	10	0.87932	D	0	-3.1868	16.0828	0.81017	0.0:0.0:0.0:1.0	.	508	O60749	SNX2_HUMAN	R	508;391	ENSP00000368831:W508R;ENSP00000421663:W391R	ENSP00000368831:W508R	W	+	1	0	SNX2	122193204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.600000	0.82769	2.199000	0.70637	0.528000	0.53228	TGG		0.343	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100		21	50	0	0	0	1	0	21	50					C	122165305	T	C	122165305	3	2	21	1	0	0	0	0	1	0	0	0	14906	1580	55	4	1580	4	SNX2	5	122165305	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	6382162	122165305	58749955	213	1638										
TIFAB	140947	broad.mit.edu	37	chr5	134785404	134785404	+	5'Flank	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcccttgcggctcagggcctTgaggcagaaggccagcaggg	17	12	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:134785404T>C	ENST00000503143.2	-	0	0				TIFAB_ENST00000537858.1_Missense_Mutation_p.K76E|CTB-138E5.1_ENST00000510230.1_RNA	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCAGGGCCTTGAGGCAGAAG	0.662																																						ENST00000537858.1																			0				breast(1)|endometrium(1)|liver(1)|lung(5)	8						c.(226-228)Aag>Gag		TRAF-interacting protein with forkhead-associated domain, family member B							70	75	73					5																	134785404		2122	4225	6347	SO:0001631	upstream_gene_variant	497189							g.chr5:134785404T>C																													5.37:g.134785404T>C	Exception_encountered		Somatic					p.K76E	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	426	-			76			FHA.			Missense_Mutation	SNP	ENST00000503143.2	37	c.226A>G	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.832189	0.50845	.	.	ENSG00000255833	ENST00000537858	D	0.86230	-2.09	4.91	4.91	0.64330	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.078523	0.51477	U	0.000081	D	0.90417	0.7000	M	0.66939	2.045	0.28740	N	0.902003	P	0.51240	0.943	P	0.57846	0.828	D	0.86492	0.1798	10	0.72032	D	0.01	.	11.2171	0.48833	0.0:0.0:0.0:1.0	.	76	Q6ZNK6	TIFAB_HUMAN	E	76	ENSP00000440509:K76E	ENSP00000440509:K76E	K	-	1	0	TIFAB	134813303	1.000000	0.71417	0.902000	0.35471	0.134000	0.20937	3.918000	0.56432	1.964000	0.57103	0.460000	0.39030	AAG		0.662	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			115	95	0	0	0	1	0	115	95					C	134785404	T	C	134785404	1	2	21	0	1	0	0	0	0	0	0	0	15910	1821	63	4		4	TIFAB	5	134785404	5'Flank	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	12620099	134785404	46129856	214	1639										
TGFBI	7045	broad.mit.edu	37	chr5	135392371	135392371	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cagcatgctggtagctgccaTccagtctgcaggactgacgg	13	12	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:135392371T>C	ENST00000442011.2	+	12	1726	c.1565T>C	c.(1564-1566)aTc>aCc	p.I522T	TGFBI_ENST00000305126.8_Missense_Mutation_p.I522T|TGFBI_ENST00000508076.1_5'Flank	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	522	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTAGCTGCCATCCAGTCTGCA	0.502																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1564-1566)aTc>aCc		transforming growth factor, beta-induced, 68kDa							99	102	101					5																	135392371		1981	4179	6160	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135392371T>C	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1565T>C	5.37:g.135392371T>C	ENSP00000416330:p.Ile522Thr		Somatic				TGFBI_ENST00000305126.8_Missense_Mutation_p.I522T	p.I522T	NM_000358.2	NP_000349.1	WXS	Illumina GAIIx	Phase_I	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		12	1726	+			522			FAS1 4.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1565T>C	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.376993	0.82682	.	.	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	D;D	0.91011	-2.77;-2.77	5.81	5.81	0.92471	FAS1 domain (4);	0.097389	0.64402	D	0.000001	D	0.96411	0.8829	M	0.92923	3.36	0.80722	D	1	D;D	0.57571	0.98;0.98	D;D	0.72338	0.977;0.972	D	0.97282	0.9918	10	0.87932	D	0	4.5569	16.1567	0.81673	0.0:0.0:0.0:1.0	.	255;522	B9ZVW9;Q15582	.;BGH3_HUMAN	T	522;255;522	ENSP00000416330:I522T;ENSP00000306306:I522T	ENSP00000306306:I522T	I	+	2	0	TGFBI	135420270	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.665000	0.83852	2.225000	0.72522	0.528000	0.53228	ATC		0.502	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			28	63	0	0	0	1	0	28	63					C	135392371	T	C	135392371	3	2	21	1	0	0	0	0	1	0	0	0	15835	1435	50	4	1611	4	TGFBI	5	135392371	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	606967	135392371	45522889	215	1640										
PSD2	84249	broad.mit.edu	37	chr5	139221883	139221883	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gttatgagacctatatccacCtcctggctatgaaaatcaaa	6	10	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:139221883C>A	ENST00000274710.3	+	15	2345	c.2140C>A	c.(2140-2142)Ctc>Atc	p.L714I		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	714					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)			CTATATCCACCTCCTGGCTAT	0.473																																						ENST00000274710.3																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(2140-2142)Ctc>Atc		pleckstrin and Sec7 domain containing 2							71	69	70					5																	139221883		2203	4300	6503	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139221883C>A	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.2140C>A	5.37:g.139221883C>A	ENSP00000274710:p.Leu714Ile		Somatic					p.L714I	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)		15	2345	+			714					D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.2140C>A	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595041	0.86953	.	.	ENSG00000146005	ENST00000274710	T	0.15139	2.45	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.17746	0.0426	L	0.46947	1.48	0.80722	D	1	P	0.37276	0.589	B	0.32393	0.145	T	0.01405	-1.1363	10	0.35671	T	0.21	.	18.479	0.90804	0.0:1.0:0.0:0.0	.	714	Q9BQI7	PSD2_HUMAN	I	714	ENSP00000274710:L714I	ENSP00000274710:L714I	L	+	1	0	PSD2	139202067	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.608000	0.67654	2.793000	0.96121	0.655000	0.94253	CTC		0.473	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		21	52	1	0	1.10513e-12	1	1.18051e-12	21	52					A	139221883	C	A	139221883	3	1	21	1	0	0	0	0	1	0	0	0	12659	681	24	5	2194	5	PSD2	5	139221883	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3829512	139221883	41693377	216	1641										
ANKHD1	54882	broad.mit.edu	37	chr5	139906583	139906583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgtcattgccattaagctctCcaaacataaagctgaatctc	5	11	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:139906583C>T	ENST00000360839.2	+	27	5165	c.5011C>T	c.(5011-5013)Cca>Tca	p.P1671S	SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Missense_Mutation_p.P1671S|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P54S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1671S	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1671						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)			ATTAAGCTCTCCAAACATAAA	0.388																																						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.(5011-5013)Cca>Tca		ankyrin repeat and KH domain containing 1							107	103	104					5																	139906583		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139906583C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5011C>T	5.37:g.139906583C>T	ENSP00000354085:p.Pro1671Ser		Somatic				ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1671S|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P54S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1671S	p.P1671S	NM_020690.5	NP_065741.3	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		27	5135	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.5011C>T	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.120750|4.120750	0.77436|0.77436	.|.	.|.	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|T;T	0.24350|0.26518	1.86;1.86;1.86;1.86;1.86;1.86|1.73;1.73	5.66|5.66	3.9|3.9	0.45041|0.45041	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.40932|0.40932	0.1137|0.1137	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999999|0.999999	B;D;D;D;D|.	0.89917|.	0.001;1.0;1.0;1.0;1.0|.	B;D;D;D;D|.	0.80764|.	0.003;0.994;0.994;0.994;0.994|.	T|T	0.32745|0.32745	-0.9895|-0.9895	10|7	0.51188|0.87932	T|D	0.08|0	.|.	14.8952|14.8952	0.70639|0.70639	0.0:0.9205:0.0:0.0795|0.0:0.9205:0.0:0.0795	.|.	54;101;1671;1671;1671|.	Q8IWG5;Q9H059;E9PF56;Q8IWZ2;Q8IWZ3|.	.;.;.;.;ANKH1_HUMAN|.	S|F	1671;1671;1671;327;106;193;54;1671|161;121	ENSP00000354085:P1671S;ENSP00000297183:P1671S;ENSP00000393204:P327S;ENSP00000390034:P193S;ENSP00000437687:P54S;ENSP00000432016:P1671S|ENSP00000410959:S161F;ENSP00000415887:S121F	ENSP00000432016:P1671S|ENSP00000415887:S121F	P|S	+|+	1|2	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139886767|139886767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.196000|2.196000	0.42686|0.42686	0.787000|0.787000	0.33731|0.33731	0.644000|0.644000	0.83932|0.83932	CCA|TCC		0.388	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		15	77	0	0	0	1	0	15	77					T	139906583	C	T	139906583	3	4	21	1	0	0	0	0	1	0	0	0	628	855	30	3	5223	3	ANKHD1	5	139906583	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	684700	139906583	41008677	217	1642										
PCDHA6	56142	broad.mit.edu	37	chr5	140208727	140208727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atgataacgtccctgagataGcactgacttccttatccttg	7	11	0	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140208727G>A	ENST00000529310.1	+	1	1165	c.1051G>A	c.(1051-1053)Gca>Aca	p.A351T	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A351T|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	351	Cadherin 4. {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)			CCCTGAGATAGCACTGACTTC	0.488																																						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.(1051-1053)Gca>Aca									84	84	84					5																	140208727		2202	4280	6482	SO:0001583	missense	0							g.chr5:140208727G>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.1051G>A	5.37:g.140208727G>A	ENSP00000433378:p.Ala351Thr		Somatic				PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A351T|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.A351T	NM_018909.2|NM_031848.1|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	1165	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1051G>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.472046	0.00011	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01838	4.61;4.61	3.7	-5.66	0.02451	Cadherin (2);Cadherin-like (1);	0.435241	0.16639	N	0.205740	T	0.00440	0.0014	N	0.00175	-1.925	0.09310	N	1	B;B;B	0.12630	0.0;0.0;0.006	B;B;B	0.12156	0.002;0.001;0.007	T	0.20273	-1.0280	10	0.02654	T	1	.	5.6229	0.17467	0.3281:0.0:0.3146:0.3573	.	351;351;351	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	T	351	ENSP00000433378:A351T;ENSP00000434113:A351T	ENSP00000434113:A351T	A	+	1	0	PCDHA6	140188911	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-3.560000	0.00431	-2.186000	0.00760	-1.786000	0.00637	GCA		0.488	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		91	80	0	0	0	1	0	91	80					A	140208727	G	A	140208727	3	1	21	1	0	0	0	0	1	0	0	0	11537	971	34	3	1053	3	PCDHA6	5	140208727	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	302144	140208727	40706533	218	1643										
PCDHB6	56130	broad.mit.edu	37	chr5	140531421	140531421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cctgcagtctttcgagttccGcgtgggcgccacagaccgcg	13	15	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140531421G>A	ENST00000231136.1	+	1	1583	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R392H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	528	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)			TTCGAGTTCCGCGTGGGCGCC	0.657																																						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.(1582-1584)cGc>cAc									68	74	72					5																	140531421		2202	4300	6502	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531421G>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.1583G>A	5.37:g.140531421G>A	ENSP00000231136:p.Arg528His		Somatic				PCDHB6_ENST00000543635.1_Missense_Mutation_p.R392H	p.R528H	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	1583	+			528			Cadherin 5.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1583G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	5.817	0.334972	0.11013	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01767	4.65;4.65	4.19	0.816	0.18768	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01421	0.0046	N	0.17800	0.525	0.09310	N	1	B	0.15473	0.013	B	0.18561	0.022	T	0.46911	-0.9157	9	0.42905	T	0.14	.	5.194	0.15225	0.3238:0.2745:0.4017:0.0	.	528	Q9Y5E3	PCDB6_HUMAN	H	392;528;313	ENSP00000438466:R392H;ENSP00000231136:R528H	ENSP00000231136:R528H	R	+	2	0	PCDHB6	140511605	0.000000	0.05858	0.996000	0.52242	0.988000	0.76386	-1.436000	0.02421	0.328000	0.23435	0.556000	0.70494	CGC		0.657	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		113	116	0	0	0	1	0	113	116					A	140531421	G	A	140531421	3	1	21	1	0	0	0	0	1	0	0	0	11555	1087	38	1	1585	1	PCDHB6	5	140531421	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	322694	140531421	40383839	219	1644										
PCDHB16	57717	broad.mit.edu	37	chr5	140564303	140564303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agcagggcggcctcggtgggCcgctgctcgatgcctgaggg	19	12	0	1	rs144790293	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140564303C>T	ENST00000361016.2	+	1	3324	c.2169C>T	c.(2167-2169)ggC>ggT	p.G723G		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	723					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCGGTGGGCCGCTGCTCGA	0.662																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(2167-2169)ggC>ggT				C		2,4404		0,2,2201	68	78	75		2169	-7.8	0	5	dbSNP_134	75	1,8599		0,1,4299	no	coding-synonymous	PCDHB16	NM_020957.1		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		723/777	140564303	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140564303C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.2169C>T	5.37:g.140564303C>T			Somatic					p.G723G	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	3324	+			723					B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.2169C>T	CCDS4251.1																																																																																				0.662	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		152	145	0	0	0	1	0	152	145					T	140564303	C	T	140564303	2	4	21	1	0	0	0	0	0	0	0	1	11550	726	26	3		3	PCDHB16	5	140564303	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	32882	140564303	40350957	220	1645										
PCDHB14	56122	broad.mit.edu	37	chr5	140604308	140604309	+	Frame_Shift_Del	DEL	AG	AG	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tttctgaaaaagcactggacAgagagagccaagccgagtac					rs201770988		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140604308_140604309delAG	ENST00000239449.4	+	1	1231_1232	c.1231_1232delAG	c.(1231-1233)agafs	p.R411fs	PCDHB14_ENST00000515856.2_Frame_Shift_Del_p.R258fs	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	411	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			AGCACTGGACAGAGAGAGCCAA	0.47																																					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.(1231-1233)afs																																						SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604308_140604309delAG	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.1231_1232delAG	5.37:g.140604314_140604315delAG	ENSP00000239449:p.Arg411fs		Somatic				PCDHB14_ENST00000515856.2_Frame_Shift_Del_p.R258fs	p.R411fs	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	1231_1232	+			411			Cadherin 4.		B4DPE2|Q4FZA4|Q4KN11	Frame_Shift_Del	DEL	ENST00000239449.4	37	c.1231_1232delAG	CCDS4256.1																																																																																				0.47	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		105	115						105	115	---	---	---	---	-	140604309	AG	-	140604308	7	5	21	1	0	1	0	1	0	0	0	0	11548	180	7	0	1233	0	PCDHB14	5	140604308	Frame_Shift_Del	DEL	AG	TCGA-N7-A4Y0-01A-12D-A28R-08	40005	140604308	40310952	221	1646										
PCDHB15	56121	broad.mit.edu	37	chr5	140627364	140627364	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cagggcatctggtggacgtgAgcggcaccgggaccctttcc	15	13	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140627364A>G	ENST00000231173.3	+	1	2218	c.2218A>G	c.(2218-2220)Agc>Ggc	p.S740G		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	740					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)			GGTGGACGTGAGCGGCACCGG	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.(2218-2220)Agc>Ggc									103	118	113					5																	140627364		2203	4297	6500	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627364A>G	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.2218A>G	5.37:g.140627364A>G	ENSP00000231173:p.Ser740Gly		Somatic					p.S740G	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	2218	+			740					Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.2218A>G	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.719128	0.30503	.	.	ENSG00000113248	ENST00000231173	T	0.52754	0.65	4.34	0.0771	0.14406	.	.	.	.	.	T	0.40145	0.1105	L	0.50847	1.595	0.09310	N	1	P	0.41748	0.761	B	0.41332	0.354	T	0.25152	-1.0140	9	0.49607	T	0.09	.	7.1591	0.25654	0.517:0.0:0.483:0.0	.	740	Q9Y5E8	PCDBF_HUMAN	G	740	ENSP00000231173:S740G	ENSP00000231173:S740G	S	+	1	0	PCDHB15	140607548	0.000000	0.05858	0.818000	0.32626	0.195000	0.23768	-0.042000	0.12063	0.177000	0.19895	0.454000	0.30748	AGC		0.602	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		207	134	0	0	0	1	0	207	134					G	140627364	A	G	140627364	3	3	21	1	0	0	0	0	1	0	0	0	11549	304	11	4	2220	4	PCDHB15	5	140627364	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	23056	140627364	40287896	222	1647										
PCDHGB1	56104	broad.mit.edu	37	chr5	140730213	140730213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tattaatgacaatgcaccacGtttcgttgcaaaaggcattg	8	8	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140730213G>A	ENST00000523390.1	+	1	386	c.386G>A	c.(385-387)cGt>cAt	p.R129H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	129	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			AATGCACCACGTTTCGTTGCA	0.418																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(385-387)cGt>cAt									81	81	81					5																	140730213		1878	4121	5999	SO:0001583	missense	0							g.chr5:140730213G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.386G>A	5.37:g.140730213G>A	ENSP00000429273:p.Arg129His		Somatic				PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R129H	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	386	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.386G>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	0.027	-1.361952	0.01235	.	.	ENSG00000254221	ENST00000523390	T	0.20738	2.05	5.36	-6.3	0.02007	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.11750	0.0286	N	0.26162	0.8	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.002	T	0.40942	-0.9536	9	0.14656	T	0.56	.	11.5554	0.50743	0.6681:0.0:0.2457:0.0862	.	129;129	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	H	129	ENSP00000429273:R129H	ENSP00000429273:R129H	R	+	2	0	PCDHGB1	140710397	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	-4.451000	0.00232	-1.248000	0.02503	-0.251000	0.11542	CGT		0.418	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		35	77	0	0	0	1	0	35	77					A	140730213	G	A	140730213	3	1	21	1	0	0	0	0	1	0	0	0	11571	1145	40	1	388	1	PCDHGB1	5	140730213	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	102849	140730213	40185047	223	1648										
PCDHGB7	56099	broad.mit.edu	37	chr5	140799074	140799074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcgccaatgtgagcctgcgcGtgttggtgggcgaccgtaac	16	11	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140799074G>A	ENST00000398594.2	+	1	1648	c.1648G>A	c.(1648-1650)Gtg>Atg	p.V550M	PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	550	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(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)			GAGCCTGCGCGTGTTGGTGGG	0.721																																						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.(1648-1650)Gtg>Atg									28	35	32					5																	140799074		2081	4199	6280	SO:0001583	missense	0							g.chr5:140799074G>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.1648G>A	5.37:g.140799074G>A	ENSP00000381594:p.Val550Met		Somatic				PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron	p.V550M	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	1648	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1648G>A	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	16.22	3.061675	0.55432	.	.	ENSG00000254122	ENST00000398594	T	0.62232	0.04	5.38	4.5	0.54988	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.30076	U	0.010477	T	0.80660	0.4665	M	0.91561	3.22	0.24603	N	0.993761	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.73553	-0.3946	10	0.87932	D	0	.	9.5735	0.39442	0.158:0.0:0.842:0.0	.	550;550	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	M	550	ENSP00000381594:V550M	ENSP00000381594:V550M	V	+	1	0	PCDHGB7	140779258	0.791000	0.28800	1.000000	0.80357	0.988000	0.76386	1.080000	0.30779	2.513000	0.84729	0.491000	0.48974	GTG		0.721	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		23	71	0	0	0	1	0	23	71					A	140799074	G	A	140799074	3	1	21	1	0	0	0	0	1	0	0	0	11577	1145	40	1	1650	1	PCDHGB7	5	140799074	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	68861	140799074	40116186	224	1649										
PCDH12	51294	broad.mit.edu	37	chr5	141334689	141334689	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gagatgtcgctgccgtctcaGggttgcagaggaggctggtg	18	8	1	2	rs439293		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:141334689G>T	ENST00000231484.3	-	1	3938	c.2728C>A	c.(2728-2730)Ctg>Atg	p.L910M	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	910					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)			TGCCGTCTCAGGGTTGCAGAG	0.632																																						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.(2728-2730)Ctg>Atg		protocadherin 12							39	44	42					5																	141334689		2202	4300	6502	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141334689G>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2728C>A	5.37:g.141334689G>T	ENSP00000231484:p.Leu910Met		Somatic					p.L910M	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	3938	-		all_hematologic(541;0.0999)	910					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.2728C>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282640	0.59867	.	.	ENSG00000113555	ENST00000231484	T	0.61274	0.12	5.2	4.33	0.51752	.	0.189298	0.34906	N	0.003584	T	0.71358	0.3330	M	0.66939	2.045	0.36864	D	0.888555	D	0.89917	1.0	D	0.73380	0.98	T	0.77422	-0.2594	10	0.56958	D	0.05	.	11.4754	0.50295	0.0867:0.0:0.9133:0.0	.	910	Q9NPG4	PCD12_HUMAN	M	910	ENSP00000231484:L910M	ENSP00000231484:L910M	L	-	1	2	PCDH12	141314873	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	2.329000	0.43876	1.433000	0.47394	0.655000	0.94253	CTG		0.632	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		36	85	1	0	1.96642e-18	1	2.15299e-18	36	85					T	141334689	G	T	141334689	3	4	21	1	0	0	0	0	1	0	0	0	11519	991	35	5	842	5	PCDH12	5	141334689	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	535615	141334689	39580571	225	1650										
GRXCR2	643226	broad.mit.edu	37	chr5	145252292	145252292	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acactgatcctctgagcagtCagcttaggggagcacatctg	11	11	3	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:145252292C>T	ENST00000377976.1	-	1	239	c.240G>A	c.(238-240)ctG>ctA	p.L80L		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	80						cell projection (GO:0042995)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						TCTGAGCAGTCAGCTTAGGGG	0.517																																						ENST00000377976.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						c.(238-240)ctG>ctA		glutaredoxin, cysteine rich 2							85	82	83					5																	145252292		2203	4300	6503	SO:0001819	synonymous_variant	643226							g.chr5:145252292C>T		CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.240G>A	5.37:g.145252292C>T			Somatic					p.L80L	NM_001080516.1	NP_001073985.1	WXS	Illumina GAIIx	Phase_I	A6NFK2	GRCR2_HUMAN			1	239	-			80						Silent	SNP	ENST00000377976.1	37	c.240G>A	CCDS34263.1																																																																																				0.517	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373289.2			42	66	0	0	0	1	0	42	66					T	145252292	C	T	145252292	2	4	21	1	0	0	0	0	0	0	0	1	6822	813	29	3		3	GRXCR2	5	145252292	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3917603	145252292	35662968	226	1651										
PDGFRB	5159	broad.mit.edu	37	chr5	149509511	149509511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aactgttccccagcagcgtgGgcggcagctcacgtggacac	13	14	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:149509511G>A	ENST00000261799.4	-	10	1857	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	463	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGCAGCGTGGGCGGCAGCTC	0.612			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(1387-1389)cCc>cTc		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						99	73	82					5																	149509511		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149509511G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1388C>T	5.37:g.149509511G>A	ENSP00000261799:p.Pro463Leu		Somatic	OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1725		p.P463L	NM_002609.3	NP_002600.1	WXS	Illumina GAIIx	Phase_I	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1857	-		all_hematologic(541;0.224)	463			Ig-like C2-type 5.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.1388C>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	4.742	0.138014	0.09083	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.75821	-0.97	4.64	4.64	0.57946	.	0.000000	0.56097	D	0.000029	T	0.67970	0.2950	L	0.56769	1.78	0.52501	D	0.999953	B;B	0.19445	0.007;0.036	B;B	0.17098	0.003;0.017	T	0.62642	-0.6811	10	0.11182	T	0.66	.	14.3668	0.66810	0.0:0.0:1.0:0.0	.	463;463	A8KAM8;P09619	.;PGFRB_HUMAN	L	463;133	ENSP00000261799:P463L	ENSP00000261799:P463L	P	-	2	0	PDGFRB	149489704	1.000000	0.71417	0.993000	0.49108	0.024000	0.10985	3.290000	0.51755	2.409000	0.81822	0.462000	0.41574	CCC		0.612	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		56	90	0	0	0	1	0	56	90					A	149509511	G	A	149509511	3	1	21	1	0	0	0	0	1	0	0	0	11671	1232	43	3	1988	3	PDGFRB	5	149509511	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	4257219	149509511	31405749	227	1652										
WWC1	23286	broad.mit.edu	37	chr5	167882440	167882440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggaccggagagtgggcacccCgtcccaggggccatttcttc	14	14	1	1	rs375638687		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:167882440C>T	ENST00000265293.4	+	19	3240	c.2738C>T	c.(2737-2739)cCg>cTg	p.P913L	WWC1_ENST00000521089.1_Missense_Mutation_p.P913L|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	913	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GTGGGCACCCCGTCCCAGGGG	0.622																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(2737-2739)cCg>cTg		WW and C2 domain containing 1		C	LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	101	106	104		2738,2738,2738	4.6	0.3	5		104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	WWC1	NM_001161661.1,NM_001161662.1,NM_015238.2	98,98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	913/1120,913/1119,913/1114	167882440	1,13005	2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167882440C>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2738C>T	5.37:g.167882440C>T	ENSP00000265293:p.Pro913Leu		Somatic				WWC1_ENST00000521089.1_Missense_Mutation_p.P913L|WWC1_ENST00000522140.1_3'UTR	p.P913L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	WXS	Illumina GAIIx	Phase_I	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	19	3240	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	913			Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.2738C>T	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927940	0.34002	0.0	1.16E-4	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.49432	0.78;0.78;0.78	5.46	4.57	0.56435	.	0.257041	0.39834	N	0.001241	T	0.48519	0.1504	L	0.50333	1.59	0.33579	D	0.599642	P;D	0.56287	0.709;0.975	B;P	0.45829	0.131;0.494	T	0.65944	-0.6045	10	0.62326	D	0.03	.	15.4889	0.75590	0.1395:0.8605:0.0:0.0	.	913;913	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	L	913;913;239	ENSP00000265293:P913L;ENSP00000427772:P913L;ENSP00000428084:P239L	ENSP00000265293:P913L	P	+	2	0	WWC1	167815018	0.049000	0.20398	0.263000	0.24496	0.009000	0.06853	2.095000	0.41729	1.258000	0.44101	0.655000	0.94253	CCG		0.622	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		129	105	0	0	0	1	0	129	105					T	167882440	C	T	167882440	3	4	21	1	0	0	0	0	1	0	0	0	17426	652	23	1	2812	1	WWC1	5	167882440	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	18372929	167882440	13032820	228	1653										
MSX2	4488	broad.mit.edu	37	chr5	174151740	174151740	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtggtggccggaccaggcccGgggcctgggggcgccgaggg	23	12	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:174151740G>C	ENST00000239243.6	+	1	205	c.78G>C	c.(76-78)ccG>ccC	p.P26P	MSX2_ENST00000507785.1_Silent_p.P26P	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	26					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GACCAGGCCCGGGGCCTGGGG	0.682																																						ENST00000239243.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(76-78)ccG>ccC		msh homeobox 2							4	6	5					5																	174151740		1998	4046	6044	SO:0001819	synonymous_variant	4488				cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:174151740G>C	D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"Homeoboxes / ANTP class : NKL subclass"	7392	protein-coding gene	gene with protein product	"craniosynostosis, type 2"	123101	"msh (Drosophila) homeo box homolog 2", "parietal foramina 1", "msh homeobox homolog 2 (Drosophila)"	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.78G>C	5.37:g.174151740G>C			Somatic				MSX2_ENST00000507785.1_Silent_p.P26P	p.P26P	NM_002449.4	NP_002440.2	WXS	Illumina GAIIx	Phase_I	P35548	MSX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	205	+	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	26					D3DQN1|Q53XM4|Q9UD60	Silent	SNP	ENST00000239243.6	37	c.78G>C	CCDS4392.1																																																																																				0.682	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252981.3			5	20	0	0	0	1	0	5	20					C	174151740	G	C	174151740	2	2	21	1	0	0	0	0	0	0	0	1	9905	1103	39	5		5	MSX2	5	174151740	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	6269300	174151740	6763520	229	1654										
CDHR2	54825	broad.mit.edu	37	chr5	176004718	176004718	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agagacattaatgaccacagGcccacgtttccccagagctt	8	13	0	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:176004718G>A	ENST00000510636.1	+	14	1705	c.1431G>A	c.(1429-1431)agG>agA	p.R477R	CDHR2_ENST00000261944.5_Silent_p.R477R|CDHR2_ENST00000506348.1_Silent_p.R477R	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	477	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ATGACCACAGGCCCACGTTTC	0.607																																						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.(1429-1431)agG>agA		cadherin-related family member 2							103	90	94					5																	176004718		2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176004718G>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.1431G>A	5.37:g.176004718G>A			Somatic				CDHR2_ENST00000506348.1_Silent_p.R477R|CDHR2_ENST00000261944.5_Silent_p.R477R	p.R477R	NM_001171976.1	NP_001165447.1	WXS	Illumina GAIIx	Phase_I	Q9BYE9	CDHR2_HUMAN			14	1705	+			477			Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.1431G>A	CCDS34297.1																																																																																				0.607	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		27	59	0	0	0	1	0	27	59					A	176004718	G	A	176004718	2	1	21	1	0	0	0	0	0	0	0	1	3121	1194	42	3		3	CDHR2	5	176004718	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1852978	176004718	4910542	230	1655										
NSD1	64324	broad.mit.edu	37	chr5	176696631	176696631	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cagctgagatctgccatcctCgagctgttccttccaacatt	7	14	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:176696631C>T	ENST00000439151.2	+	16	5377	c.5332C>T	c.(5332-5334)Cga>Tga	p.R1778*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1509*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1675*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1509*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1778	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				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.R1778*(2)		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)		CTGCCATCCTCGAGCTGTTCC	0.468			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		2	Substitution - Nonsense(2)	p.R1778*(2)	lung(2)	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	GRCh37	CM030076	NSD1	M		c.(5332-5334)Cga>Tga		nuclear receptor binding SET domain protein 1							88	85	86					5																	176696631		2203	4300	6503	SO:0001587	stop_gained	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.chr5:176696631C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5332C>T	5.37:g.176696631C>T	ENSP00000395929:p.Arg1778*	HNSCC(47;0.14)	Somatic				NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1509*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1509*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1675*	p.R1778*	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)	16	5377	+	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)	1778			PWWP 2.		Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.5332C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	44	10.650110	0.99444	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.89	5.02	0.67125	.	0.000000	0.48767	D	0.000172	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4373	0.32795	0.246:0.6776:0.0:0.0764	.	.	.	.	X	1509;1778;1509;1675	.	ENSP00000343209:R1509X	R	+	1	2	NSD1	176629237	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.878000	0.48515	1.495000	0.48549	0.585000	0.79938	CGA		0.468	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		50	34	0	0	0	1	0	50	34					T	176696631	C	T	176696631	4	4	21	1	0	0	0	0	0	1	0	0	10678	876	31	1	5390	1	NSD1	5	176696631	Nonsense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	691913	176696631	4218629	231	1656										
FAM193B	54540	broad.mit.edu	37	chr5	176963600	176963600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggtgctgccggggtggtggGcagcaggtgtgggtggggtg	25	5	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:176963600G>A	ENST00000514747.1	-	4	883	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000443375.2_Missense_Mutation_p.P166S	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	279	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						GGGGTGGTGGGCAGCAGGTGT	0.667																																						ENST00000443375.2																			0				kidney(1)|large_intestine(3)	4						c.(496-498)Ccc>Tcc		family with sequence similarity 193, member B							14	16	15					5																	176963600		1979	4132	6111	SO:0001583	missense	54540							g.chr5:176963600G>A		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.835C>T	5.37:g.176963600G>A	ENSP00000422131:p.Pro279Ser		Somatic				FAM193B_ENST00000514747.1_Missense_Mutation_p.P279S|FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000329540.5_5'UTR	p.P166S			WXS	Illumina GAIIx	Phase_I	Q6IPW0	Q6IPW0_HUMAN			5	2054	-			226					E9PET5|Q9NW00	Missense_Mutation	SNP	ENST00000514747.1	37	c.496C>T	CCDS54954.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249835	0.39797	.	.	ENSG00000146067	ENST00000514747;ENST00000443375	T;T	0.71579	-0.58;-0.58	5.35	4.48	0.54585	.	.	.	.	.	T	0.49253	0.1546	L	0.27053	0.805	0.80722	D	1	B	0.23377	0.084	B	0.20184	0.028	T	0.33394	-0.9870	9	0.09338	T	0.73	-5.5259	4.4915	0.11815	0.2352:0.0:0.5945:0.1703	.	166	E9PEZ8	.	S	279;166	ENSP00000422131:P279S;ENSP00000410098:P166S	ENSP00000410098:P166S	P	-	1	0	FAM193B	176896206	1.000000	0.71417	0.978000	0.43139	0.968000	0.65278	3.557000	0.53741	1.258000	0.44101	0.563000	0.77884	CCC		0.667	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		9	12	0	0	0	1	0	9	12					A	176963600	G	A	176963600	3	1	21	1	0	0	0	0	1	0	0	0	5530	1203	42	3	1897	3	FAM193B	5	176963600	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	266969	176963600	3951660	232	1657										
CANX	821	broad.mit.edu	37	chr5	179146716	179146716	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agatgaagaggccacaaaacCcgaaggctggttagatgatg	13	7	0	5			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:179146716C>A	ENST00000247461.4	+	9	1159	c.959C>A	c.(958-960)cCc>cAc	p.P320H	CANX_ENST00000452673.2_Missense_Mutation_p.P320H|CANX_ENST00000512607.2_Missense_Mutation_p.P212H|CANX_ENST00000504734.1_Missense_Mutation_p.P320H|CANX_ENST00000415618.2_Missense_Mutation_p.P355H	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	320	4 X approximate repeats.|P domain (Extended arm). {ECO:0000250}.				aging (GO:0007568)|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)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	GCCACAAAACCCGAAGGCTGG	0.423																																						ENST00000247461.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22						c.(958-960)cCc>cAc		calnexin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						79	79	79					5																	179146716		2203	4300	6503	SO:0001583	missense	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179146716C>A	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"major histocompatibility complex class I antigen-binding protein p88"	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.959C>A	5.37:g.179146716C>A	ENSP00000247461:p.Pro320His		Somatic				CANX_ENST00000504734.1_Missense_Mutation_p.P320H|CANX_ENST00000452673.2_Missense_Mutation_p.P320H|CANX_ENST00000415618.2_Missense_Mutation_p.P355H|CANX_ENST00000512607.2_Missense_Mutation_p.P212H	p.P320H	NM_001746.3	NP_001737.1	WXS	Illumina GAIIx	Phase_I	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1159	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	320			4 X approximate repeats.|P domain (Extended arm) (By similarity).		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	c.959C>A	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289516	0.95517	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502673;ENST00000512607;ENST00000376953	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	Concanavalin A-like lectin/glucanase (1);Calreticulin/calnexin, P (2);	0.000000	0.85682	D	0.000000	D	0.91233	0.7237	H	0.98407	4.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.991;1.0	D	0.94009	0.7282	10	0.87932	D	0	-13.602	20.0884	0.97806	0.0:1.0:0.0:0.0	.	355;256;320	B4DGP8;Q6ZP56;P27824	.;.;CALX_HUMAN	H	320;355;320;320;256;212;256	ENSP00000424063:P320H;ENSP00000394817:P355H;ENSP00000391646:P320H;ENSP00000247461:P320H;ENSP00000421107:P256H;ENSP00000423588:P212H	ENSP00000247461:P320H	P	+	2	0	CANX	179079322	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.818000	0.86416	2.755000	0.94549	0.561000	0.74099	CCC		0.423	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		18	17	1	0	1.00905e-13	1	1.08051e-13	18	17					A	179146716	C	A	179146716	3	1	21	1	0	0	0	0	1	0	0	0	2620	623	22	5	989	5	CANX	5	179146716	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2183116	179146716	1768544	233	1658										
TUBB2B	347733	broad.mit.edu	37	chr6	3225652	3225653	+	Frame_Shift_Ins	INS	-	-	C													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgacaccaggtggttgaggtINSccccgtaggtgggggtggtc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:3225652_3225653insC	ENST00000259818.7	-	4	861_862	c.670_671insG	c.(670-672)gacfs	p.D224fs	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	224					'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)			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GTGGTTGAGGTCCCCGTAGGTG	0.614																																						ENST00000259818.7																			0				kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10						c.(670-672)cctfs		tubulin, beta 2B class IIb																																				SO:0001589	frameshift_variant	347733				'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr6:3225652_3225653insC	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.671dupG	6.37:g.3225656_3225656dupC	ENSP00000259818:p.Asp224fs		Somatic				TUBB2B_ENST00000473006.1_5'UTR	p.P224fs	NM_178012.4	NP_821080.1	WXS	Illumina GAIIx	Phase_I	Q9BVA1	TBB2B_HUMAN			4	861_862	-	Ovarian(93;0.0386)	all_hematologic(90;0.108)	224					A8K068	Frame_Shift_Ins	INS	ENST00000259818.7	37	c.670_671insG	CCDS4485.1																																																																																				0.614	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2	NM_178012		44	53						44	53	---	---	---	---	C	3225653	-	C	3225652	7	5	21	1	0	1	1	0	0	0	0	0	16770	1667	58	0	670	0	TUBB2B	6	3225652	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08		3225652	167889415	234	1659										
RREB1	6239	broad.mit.edu	37	chr6	7247181	7247181	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cccctgaacaggaggagaagCcccccgagaccccggcagag							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:7247181delC	ENST00000349384.6	+	11	4647	c.4333delC	c.(4333-4335)cccfs	p.P1446fs	RREB1_ENST00000379933.3_Frame_Shift_Del_p.P1446fs|RREB1_ENST00000379938.2_Frame_Shift_Del_p.P1501fs|RREB1_ENST00000334984.6_Intron	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1446					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)				GGAGGAGAAGCCCCCCGAGAC	0.746																																						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.(4498-4500)ccfs		ras responsive element binding protein 1							5	7	6					6																	7247181		2058	4035	6093	SO:0001589	frameshift_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.chr6:7247181delC	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.4333delC	6.37:g.7247181delC	ENSP00000305560:p.Pro1446fs		Somatic				RREB1_ENST00000349384.6_Frame_Shift_Del_p.P1446fs|RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379933.3_Frame_Shift_Del_p.P1446fs	p.P1501fs	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	WXS	Illumina GAIIx	Phase_I	Q92766	RREB1_HUMAN			12	5035	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1446					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Frame_Shift_Del	DEL	ENST00000349384.6	37	c.4498delC	CCDS34336.1																																																																																				0.746	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			11	3						11	3	---	---	---	---	-	7247181	C	-	7247181	7	5	21	1	0	1	0	1	0	0	0	0	13694	739	26	0	4532	0	RREB1	6	7247181	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	4021529	7247181	163867886	235	1660										
DSP	1832	broad.mit.edu	37	chr6	7583793	7583793	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcactggttttgatgatccaTtttcaggcaagacagtatct							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:7583793delT	ENST00000379802.3	+	24	6639	c.6298delT	c.(6298-6300)tttfs	p.F2100fs	DSP_ENST00000418664.2_Frame_Shift_Del_p.F1501fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2100	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)		TGATGATCCATTTTCAGGCAA	0.468																																						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.(6298-6300)ttfs		desmoplakin							109	115	113					6																	7583793		2203	4300	6503	SO:0001589	frameshift_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583793delT	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.6298delT	6.37:g.7583793delT	ENSP00000369129:p.Phe2100fs		Somatic				DSP_ENST00000418664.2_Frame_Shift_Del_p.F1501fs	p.F2100fs	NM_004415.2	NP_004406.2	WXS	Illumina GAIIx	Phase_I	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6639	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2100			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Frame_Shift_Del	DEL	ENST00000379802.3	37	c.6298delT	CCDS4501.1																																																																																				0.468	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		225	156						225	156	---	---	---	---	-	7583793	T	-	7583793	7	5	21	1	0	1	0	1	0	0	0	0	4783	1493	52	0	6392	0	DSP	6	7583793	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	336612	7583793	163531274	236	1661										
HIST1H3C	8352	broad.mit.edu	37	chr6	26045754	26045754	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caccggtggcgtgaagaaacCtcatcgctaccgcccgggca	12	15	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:26045754C>A	ENST00000540144.1	+	1	116	c.116C>A	c.(115-117)cCt>cAt	p.P39H	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	39					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						GTGAAGAAACCTCATCGCTAC	0.637																																						ENST00000540144.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						c.(115-117)cCt>cAt		histone cluster 1, H3c							45	48	47					6																	26045754		2203	4300	6503	SO:0001583	missense	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045754C>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.116C>A	6.37:g.26045754C>A	ENSP00000439493:p.Pro39His		Somatic					p.P39H	NM_003531.2	NP_003522.1	WXS	Illumina GAIIx	Phase_I	P68431	H31_HUMAN			1	116	+			39					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	c.116C>A	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387290	0.42308	.	.	ENSG00000196532	ENST00000540144	T	0.46819	0.86	4.67	4.67	0.58626	.	.	.	.	.	T	0.59770	0.2218	.	.	.	0.46203	D	0.998926	.	.	.	.	.	.	T	0.65249	-0.6214	6	0.87932	D	0	.	17.4292	0.87534	0.0:1.0:0.0:0.0	.	.	.	.	H	39	ENSP00000439493:P39H	ENSP00000439493:P39H	P	+	2	0	HIST1H3C	26153733	1.000000	0.71417	0.971000	0.41717	0.020000	0.10135	5.969000	0.70422	2.529000	0.85273	0.591000	0.81541	CCT		0.637	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		80	50	1	0	5.04879e-28	1	5.6549e-28	80	50					A	26045754	C	A	26045754	3	1	21	1	0	0	0	0	1	0	0	0	7166	681	24	5	118	5	HIST1H3C	6	26045754	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	18461961	26045754	145069313	237	1662										
RNF39	80352	broad.mit.edu	37	chr6	30039052	30039052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccgctcccagtccaggtccaCgcgaatgcgccgcggcgggg	15	17	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:30039052C>T	ENST00000244360.6	-	4	1196	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	RNF39_ENST00000376751.3_Intron	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	367	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										TCCAGGTCCACGCGAATGCGC	0.751																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6																			0											c.(1099-1101)Gtg>Atg		ring finger protein 39							11	10	11					6																	30039052		1488	2667	4155	SO:0001583	missense	80352					cytoplasm	zinc ion binding	g.chr6:30039052C>T	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"RING-type (C3HC4) zinc fingers"	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.1099G>A	6.37:g.30039052C>T	ENSP00000244360:p.Val367Met		Somatic				RNF39_ENST00000376751.3_Intron	p.V367M	NM_025236.3	NP_079512.2	WXS	Illumina GAIIx	Phase_I	Q9H2S5	RNF39_HUMAN			4	1196	-			367			B30.2/SPRY.		A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	c.1099G>A	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	c	16.37	3.104000	0.56291	.	.	ENSG00000204618	ENST00000244360	T	0.74632	-0.86	4.43	4.43	0.53597	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.38548	N	0.001655	D	0.85665	0.5749	M	0.93720	3.45	0.39166	D	0.962492	D	0.89917	1.0	D	0.91635	0.999	D	0.88155	0.2853	9	.	.	.	-39.6507	8.7837	0.34807	0.0:0.8946:0.0:0.1054	.	367	Q9H2S5	RNF39_HUMAN	M	367	ENSP00000244360:V367M	.	V	-	1	0	RNF39	30147031	0.986000	0.35501	1.000000	0.80357	0.309000	0.27889	2.741000	0.47426	2.195000	0.70347	0.282000	0.19409	GTG		0.751	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		4	15	0	0	0	1	0	4	15					T	30039052	C	T	30039052	3	4	21	1	0	0	0	0	1	0	0	0	13506	536	19	1	167	1	RNF39	6	30039052	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3993298	30039052	141076015	238	1663										
GNL1	2794	broad.mit.edu	37	chr6	30521243	30521243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggcaaccacaagagctggcGgggccagatccaccttgttc	12	13	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:30521243G>A	ENST00000376621.3	-	6	1662	c.692C>T	c.(691-693)cCg>cTg	p.P231L		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	231	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						AAGAGCTGGCGGGGCCAGATC	0.542																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(691-693)cCg>cTg		guanine nucleotide binding protein-like 1							128	134	132					6																	30521243		1510	2709	4219	SO:0001583	missense	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30521243G>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.692C>T	6.37:g.30521243G>A	ENSP00000365806:p.Pro231Leu		Somatic					p.P231L	NM_005275.3	NP_005266.2	WXS	Illumina GAIIx	Phase_I	P36915	GNL1_HUMAN			6	1662	-			231					B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	c.692C>T	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856227	0.91355	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126;ENST00000433809	T;T	0.15256	2.44;2.44	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	0.999;0.989;1.0	P;P;D	0.81914	0.899;0.709;0.995	T	0.52771	-0.8531	10	0.72032	D	0.01	-42.4185	17.481	0.87673	0.0:0.0:1.0:0.0	.	229;93;231	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	L	231;53;93;229	ENSP00000365806:P231L;ENSP00000404728:P229L	ENSP00000365806:P231L	P	-	2	0	GNL1	30629222	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	8.495000	0.90481	2.434000	0.82447	0.655000	0.94253	CCG		0.542	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			104	73	0	0	0	1	0	104	73					A	30521243	G	A	30521243	3	1	21	1	0	0	0	0	1	0	0	0	6543	1116	39	1	1159	1	GNL1	6	30521243	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	482191	30521243	140593824	239	1664										
LTA	4049	broad.mit.edu	37	chr6	31541415	31541415	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atccacccacacagatggcaTcccccacctagtcctcagcc	5	20	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:31541415T>C	ENST00000454783.1	+	4	821	c.563T>C	c.(562-564)aTc>aCc	p.I188T	TNF_ENST00000449264.2_5'Flank|LTA_ENST00000418386.2_Missense_Mutation_p.I188T	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	188					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)	ACAGATGGCATCCCCCACCTA	0.522																																						ENST00000454783.1																			0				endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(562-564)aTc>aCc		lymphotoxin alpha	Etanercept(DB00005)						169	166	167					6																	31541415		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.chr6:31541415T>C	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.563T>C	6.37:g.31541415T>C	ENSP00000403495:p.Ile188Thr		Somatic				LTA_ENST00000418386.2_Missense_Mutation_p.I188T	p.I188T	NM_001159740.2	NP_001153212.1	WXS	Illumina GAIIx	Phase_I	P01374	TNFB_HUMAN			4	821	+			188					Q8N4C3|Q9UKS8	Missense_Mutation	SNP	ENST00000454783.1	37	c.563T>C	CCDS4701.1	.	.	.	.	.	.	.	.	.	.	T	3.495	-0.102973	0.06967	.	.	ENSG00000226979	ENST00000454783;ENST00000418386	D;D	0.94376	-3.41;-3.41	5.69	3.25	0.37280	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.367576	0.29389	N	0.012288	T	0.80539	0.4642	L	0.45137	1.4	0.36832	D	0.886952	B	0.18310	0.027	B	0.15870	0.014	T	0.70745	-0.4788	10	0.29301	T	0.29	-25.1323	6.0161	0.19603	0.0:0.0863:0.1809:0.7328	.	188	P01374	TNFB_HUMAN	T	188	ENSP00000403495:I188T;ENSP00000413450:I188T	ENSP00000413450:I188T	I	+	2	0	LTA	31649394	0.001000	0.12720	0.842000	0.33263	0.321000	0.28281	0.430000	0.21428	0.403000	0.25479	0.533000	0.62120	ATC		0.522	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259097.1			21	357	0	0	0	1	0	21	357					C	31541415	T	C	31541415	3	2	21	1	0	0	0	0	1	0	0	0	9077	1435	50	4	573	4	LTA	6	31541415	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1020172	31541415	139573652	240	1665										
BAT2	7916	broad.mit.edu	37	chr6	31594934	31594934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctcccctacccccacctcacCggggccccgccgggaactgg	10	22	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:31594934C>T	ENST00000376033.2	+	11	1483	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R417W	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	417	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCACCTCACCGGGGCCCCGC	0.652																																						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.(1249-1251)Cgg>Tgg		proline-rich coiled-coil 2A							12	15	14					6																	31594934		2181	4258	6439	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31594934C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1249C>T	6.37:g.31594934C>T	ENSP00000365201:p.Arg417Trp		Somatic				PRRC2A_ENST00000376007.4_Missense_Mutation_p.R417W	p.R417W	NM_004638.3	NP_004629.3	WXS	Illumina GAIIx	Phase_I	P48634	PRC2A_HUMAN			11	1483	+			417			2 X type B repeats.|4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.1249C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630459	0.28978	.	.	ENSG00000204469	ENST00000424184;ENST00000376007;ENST00000376033	T;T	0.03860	3.78;3.78	4.7	2.73	0.32206	.	0.000000	0.44902	D	0.000403	T	0.06554	0.0168	L	0.55990	1.75	0.39277	D	0.964498	D	0.71674	0.998	P	0.57620	0.824	T	0.11567	-1.0582	10	0.87932	D	0	-14.3797	11.281	0.49195	0.3297:0.6703:0.0:0.0	.	417	P48634	PRC2A_HUMAN	W	417	ENSP00000365175:R417W;ENSP00000365201:R417W	ENSP00000365175:R417W	R	+	1	2	PRRC2A	31702913	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.512000	0.35812	1.296000	0.44742	0.655000	0.94253	CGG		0.652	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		41	30	0	0	0	1	0	41	30					T	31594934	C	T	31594934	3	4	21	1	0	0	0	0	1	0	0	0	1319	643	23	1	1287	1	BAT2	6	31594934	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	53519	31594934	139520133	241	1666										
TNXB	7148	broad.mit.edu	37	chr6	32065702	32065702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgaagcaaggactgggggctCggtgcctgggggacagccac	18	10	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:32065702C>T	ENST00000479795.1	-	2	414	c.274G>A	c.(274-276)Gag>Aag	p.E92K	TNXB_ENST00000375244.3_Missense_Mutation_p.E92K|TNXB_ENST00000375247.2_Missense_Mutation_p.E92K			P22105	TENX_HUMAN	tenascin XB	92					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						ACTGGGGGCTCGGTGCCTGGG	0.607																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(274-276)Gag>Aag		tenascin XB							19	20	20					6																	32065702		1920	4114	6034	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.chr6:32065702C>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.274G>A	6.37:g.32065702C>T	ENSP00000418248:p.Glu92Lys		Somatic				TNXB_ENST00000375247.2_Missense_Mutation_p.E92K|TNXB_ENST00000479795.1_Missense_Mutation_p.E92K	p.E92K			WXS	Illumina GAIIx	Phase_I	P22105	TENX_HUMAN			2	475	-			92					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37	c.274G>A		.	.	.	.	.	.	.	.	.	.	C	26.7	4.767438	0.90020	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;D	0.92249	0.67;0.51;-3.0	4.48	4.48	0.54585	.	0.000000	0.42964	D	0.000635	D	0.93485	0.7921	M	0.64997	1.995	0.30057	N	0.811245	D	0.89917	1.0	D	0.79108	0.992	D	0.89992	0.4108	10	0.59425	D	0.04	.	14.1717	0.65514	0.0:1.0:0.0:0.0	.	92	P22105-3	.	K	92	ENSP00000364393:E92K;ENSP00000364396:E92K;ENSP00000418248:E92K	ENSP00000364393:E92K	E	-	1	0	TNXB	32173680	0.982000	0.34865	0.932000	0.37286	0.993000	0.82548	3.326000	0.52037	2.311000	0.77944	0.561000	0.74099	GAG		0.607	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		28	17	0	0	0	1	0	28	17					T	32065702	C	T	32065702	3	4	21	1	0	0	0	0	1	0	0	0	16361	893	31	1	14611	1	TNXB	6	32065702	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	470768	32065702	139049365	242	1667										
C6orf10	10665	broad.mit.edu	37	chr6	32261771	32261772	+	Frame_Shift_Ins	INS	-	-	T													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atctggattttggaacaagaINStttttttgcaagttcttcat					rs560505	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:32261771_32261772insT	ENST00000447241.2	-	23	850_851	c.678_679insA	c.(676-681)aaatctfs	p.S227fs	C6orf10_ENST00000533191.1_Frame_Shift_Ins_p.S225fs|C6orf10_ENST00000527965.1_Frame_Shift_Ins_p.S211fs|C6orf10_ENST00000442822.2_Frame_Shift_Ins_p.S218fs|C6orf10_ENST00000375015.4_Frame_Shift_Ins_p.S226fs|C6orf10_ENST00000375007.4_Frame_Shift_Ins_p.S225fs	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	227			S -> P (in dbSNP:rs560505). {ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTGGAACAAGATTTTTTTGCAA	0.337																																						ENST00000375015.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						c.(673-678)aacttgfs		chromosome 6 open reading frame 10																																				SO:0001589	frameshift_variant	10665					integral to membrane		g.chr6:32261771_32261772insT	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"testis specific basic protein"					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.679dupA	6.37:g.32261778_32261778dupT	ENSP00000415517:p.Ser227fs		Somatic				C6orf10_ENST00000533191.1_Frame_Shift_Ins_p.N224fs|C6orf10_ENST00000442822.2_Frame_Shift_Ins_p.N217fs|C6orf10_ENST00000375007.4_Frame_Shift_Ins_p.N224fs|C6orf10_ENST00000447241.2_Frame_Shift_Ins_p.N226fs|C6orf10_ENST00000527965.1_Frame_Shift_Ins_p.N210fs	p.N225fs			WXS	Illumina GAIIx	Phase_I	Q5SRN2	CF010_HUMAN			26	875_876	-			226					A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Frame_Shift_Ins	INS	ENST00000447241.2	37	c.675_676insA	CCDS34422.1																																																																																				0.337	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		61	58						61	58	---	---	---	---	T	32261772	-	T	32261771	7	5	21	1	0	1	1	0	0	0	0	0	2319	333	12	0	1016	0	C6orf10	6	32261771	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	196069	32261771	138853296	243	1668										
HLA-DPA1	3113	broad.mit.edu	37	chr6	33037547	33037547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aaactcctccagatgccagaCggtctccttcttgtccagat	7	14	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:33037547C>T	ENST00000419277.1	-	3	346	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.V73I|HLA-DPA1_ENST00000463066.1_5'UTR	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	73	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|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)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						AGATGCCAGACGGTCTCCTTC	0.458																																						ENST00000419277.1																			0				kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						c.(217-219)Gtc>Atc		major histocompatibility complex, class II, DP alpha 1							74	93	86					6																	33037547		1511	2709	4220	SO:0001583	missense	3113				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.chr6:33037547C>T	X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.217G>A	6.37:g.33037547C>T	ENSP00000393566:p.Val73Ile		Somatic				HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.V73I|HLA-DPA1_ENST00000463066.1_5'UTR	p.V73I	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	WXS	Illumina GAIIx	Phase_I	P20036	DPA1_HUMAN			3	346	-			73			Alpha-1.		A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	ENST00000419277.1	37	c.217G>A	CCDS4764.1	.	.	.	.	.	.	.	.	.	.	C	9.753	1.168112	0.21621	.	.	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000448544;ENST00000453337	T;T;T	0.01613	4.73;4.73;4.73	3.0	0.00536	0.14062	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.196310	0.33553	N	0.004799	T	0.00552	0.0018	L	0.39245	1.2	0.24255	N	0.995307	B	0.13594	0.008	B	0.13407	0.009	T	0.46498	-0.9187	10	0.34782	T	0.22	.	7.0702	0.25173	0.0:0.6561:0.0:0.3439	.	73	P20036	DPA1_HUMAN	I	73	ENSP00000393566:V73I;ENSP00000402872:V73I;ENSP00000390929:V73I	ENSP00000393566:V73I	V	-	1	0	HLA-DPA1	33145525	0.000000	0.05858	0.181000	0.23098	0.769000	0.43574	-1.050000	0.03510	-0.177000	0.10690	0.643000	0.83706	GTC		0.458	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076071.3	NM_033554		41	28	0	0	0	1	0	41	28					T	33037547	C	T	33037547	3	4	21	1	0	0	0	0	1	0	0	0	7211	536	19	1	577	1	HLA-DPA1	6	33037547	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	775776	33037547	138077520	244	1669										
VPS52	6293	broad.mit.edu	37	chr6	33231322	33231322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctttgctgtcatctgcagccCgctcctaagggaagacaaag	10	12	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:33231322C>T	ENST00000445902.2	-	17	1951	c.1733G>A	c.(1732-1734)cGg>cAg	p.R578Q	VPS52_ENST00000436044.2_Missense_Mutation_p.R453Q|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	578					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATCTGCAGCCCGCTCCTAAGG	0.512																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1732-1734)cGg>cAg		vacuolar protein sorting 52 homolog (S. cerevisiae)							104	91	96					6																	33231322		2203	4300	6503	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33231322C>T	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1733G>A	6.37:g.33231322C>T	ENSP00000409952:p.Arg578Gln		Somatic				VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R453Q|VPS52_ENST00000478934.1_5'UTR	p.R578Q	NM_022553.4	NP_072047.4	WXS	Illumina GAIIx	Phase_I	Q8N1B4	VPS52_HUMAN			17	1951	-			578					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.1733G>A	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	33	5.254902	0.95336	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	M	0.83603	2.65	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.69142	0.962;0.962	T	0.68762	-0.5323	9	0.14252	T	0.57	-25.7871	16.237	0.82381	0.0:1.0:0.0:0.0	.	389;578	B3KMF7;Q8N1B4	.;VPS52_HUMAN	Q	578;556;453	.	ENSP00000414785:R556Q	R	-	2	0	VPS52	33339300	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.274000	0.72587	2.779000	0.95612	0.573000	0.79308	CGG		0.512	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		26	35	0	0	0	1	0	26	35					T	33231322	C	T	33231322	3	4	21	1	0	0	0	0	1	0	0	0	17229	652	23	1	454	1	VPS52	6	33231322	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	193775	33231322	137883745	245	1670										
ITPR3	3710	broad.mit.edu	37	chr6	33630351	33630351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggagcaggagaagttcctgaCgtgtgacgagtacaagggca	16	7	0	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:33630351C>T	ENST00000374316.5	+	9	1818	c.758C>T	c.(757-759)aCg>aTg	p.T253M	ITPR3_ENST00000605930.1_Missense_Mutation_p.T253M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	253	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	AAGTTCCTGACGTGTGACGAG	0.632																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(757-759)aCg>aTg		inositol 1,4,5-trisphosphate receptor, type 3							103	76	85					6																	33630351		2203	4299	6502	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33630351C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.758C>T	6.37:g.33630351C>T	ENSP00000363435:p.Thr253Met		Somatic				ITPR3_ENST00000605930.1_Missense_Mutation_p.T253M	p.T253M			WXS	Illumina GAIIx	Phase_I	Q14573	ITPR3_HUMAN			9	1818	+			253			MIR 3.		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.758C>T	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113224	0.77210	.	.	ENSG00000096433	ENST00000374316	D	0.90261	-2.64	5.61	5.61	0.85477	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.96386	0.8821	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96719	0.9531	10	0.87932	D	0	-24.0745	19.6298	0.95698	0.0:1.0:0.0:0.0	.	253	Q14573	ITPR3_HUMAN	M	253	ENSP00000363435:T253M	ENSP00000363435:T253M	T	+	2	0	ITPR3	33738329	1.000000	0.71417	0.968000	0.41197	0.213000	0.24496	7.811000	0.86092	2.647000	0.89833	0.313000	0.20887	ACG		0.632	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		25	18	0	0	0	1	0	25	18					T	33630351	C	T	33630351	3	4	21	1	0	0	0	0	1	0	0	0	7931	536	19	1	788	1	ITPR3	6	33630351	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	399029	33630351	137484716	246	1671										
FANCE	2178	broad.mit.edu	37	chr6	35424067	35424067	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcagttaagactggcgaggaCggttcgaatctggatgatgc	15	7	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:35424067C>T	ENST00000229769.2	+	2	977	c.792C>T	c.(790-792)gaC>gaT	p.D264D		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	264	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						CTGGCGAGGACGGTTCGAATC	0.498			"N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"N, F, S"	"Fanconi anemia, complementation group E"			L		"AML, leukemia"			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(790-792)gaC>gaT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E							148	140	142					6																	35424067		2203	4300	6503	SO:0001819	synonymous_variant	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35424067C>T	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"Fanconi anemia, complementation groups"	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.792C>T	6.37:g.35424067C>T			Somatic					p.D264D	NM_021922.2	NP_068741.1	WXS	Illumina GAIIx	Phase_I	Q9HB96	FANCE_HUMAN			2	977	+			264			Interaction with FANCC.		A8K907|Q4ZGH2	Silent	SNP	ENST00000229769.2	37	c.792C>T	CCDS4805.1																																																																																				0.498	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			94	222	0	0	0	1	0	94	222					T	35424067	C	T	35424067	2	4	21	1	0	0	0	0	0	0	0	1	5674	535	19	1		1	FANCE	6	35424067	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1793716	35424067	135691000	247	1672										
PXT1	222659	broad.mit.edu	37	chr6	36359628	36359628	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aagacaaaatgatctagtgcAtctctgccatcctgttgaag	8	9	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:36359628A>G	ENST00000454782.2	-	5	807	c.324T>C	c.(322-324)gaT>gaC	p.D108D	RP1-50J22.4_ENST00000411643.1_RNA	NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	108					positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|peroxisome (GO:0005777)											GATCTAGTGCATCTCTGCCAT	0.323																																						ENST00000454782.2																			0											c.(322-324)gaT>gaC		peroxisomal, testis specific 1							101	102	102					6																	36359628		2203	4300	6503	SO:0001819	synonymous_variant	222659					peroxisome		g.chr6:36359628A>G	AF486827	CCDS4820.2	6p21.31	2004-04-30			ENSG00000179165	ENSG00000179165			18312	protein-coding gene	gene with protein product							Standard	NM_152990		Approved	STEPP	uc003omd.2	Q8NFP0	OTTHUMG00000159815	ENST00000454782.2:c.324T>C	6.37:g.36359628A>G			Somatic				RP1-50J22.4_ENST00000411643.1_RNA	p.D108D	NM_152990.3	NP_694535.2	WXS	Illumina GAIIx	Phase_I	Q8NFP0	PXT1_HUMAN			5	807	-			25					J3KR74	Silent	SNP	ENST00000454782.2	37	c.324T>C	CCDS4820.2	.	.	.	.	.	.	.	.	.	.	A	5.424	0.263432	0.10294	.	.	ENSG00000179165	ENST00000459696	.	.	.	4.84	-6.84	0.01687	.	.	.	.	.	T	0.10294	0.0252	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29150	-1.0021	4	.	.	.	0.2944	7.5771	0.27942	0.2504:0.5119:0.2377:0.0	.	.	.	.	T	32	.	.	M	-	2	0	PXT1	36467606	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.145000	0.10265	-1.329000	0.02258	0.533000	0.62120	ATG		0.323	PXT1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357516.2	NM_152990		37	93	0	0	0	1	0	37	93					G	36359628	A	G	36359628	2	3	21	1	0	0	0	0	0	0	0	1	12868	214	8	4		4	PXT1	6	36359628	Silent	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	935561	36359628	134755439	248	1673										
TAF8	129685	broad.mit.edu	37	chr6	42036324	42036324	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaacagacagacacagagaaCcttgctcttcatatcagcat	7	11	3	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:42036324C>T	ENST00000372977.3	+	7	777	c.759C>T	c.(757-759)aaC>aaT	p.N253N	TAF8_ENST00000456846.2_Silent_p.N253N|TAF8_ENST00000465926.1_Silent_p.N177N|TAF8_ENST00000372982.4_Silent_p.N253N|TAF8_ENST00000494547.1_Silent_p.N253N	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	253					cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			ACACAGAGAACCTTGCTCTTC	0.532																																						ENST00000372977.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						c.(757-759)aaC>aaT		TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa							175	184	181					6																	42036324		2074	4204	6278	SO:0001819	synonymous_variant	129685				cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding	g.chr6:42036324C>T	AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa", "taube nuss homolog (mouse)"	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692	ENST00000372977.3:c.759C>T	6.37:g.42036324C>T			Somatic				TAF8_ENST00000456846.2_Silent_p.N253N|TAF8_ENST00000465926.1_Silent_p.N177N|TAF8_ENST00000494547.1_Silent_p.N253N|TAF8_ENST00000372982.4_Silent_p.N253N	p.N253N	NM_138572.2	NP_612639.2	WXS	Illumina GAIIx	Phase_I	Q7Z7C8	TAF8_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)		7	777	+	Colorectal(47;0.196)		253					Q5T0K1|Q8N4R9|Q96M52	Silent	SNP	ENST00000372977.3	37	c.759C>T	CCDS43462.1																																																																																				0.532	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357901.1	NM_138572		80	212	0	0	0	1	0	80	212					T	42036324	C	T	42036324	2	4	21	1	0	0	0	0	0	0	0	1	15549	506	18	3		3	TAF8	6	42036324	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	5676696	42036324	129078743	249	1674										
KLC4	89953	broad.mit.edu	37	chr6	43034148	43034148	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tccagtacgcagcccaaggtCgctatgaggtggccgtgcca	13	13	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:43034148C>T	ENST00000394056.2	+	6	1171	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	KLC4_ENST00000259708.3_Missense_Mutation_p.R244C|KLC4_ENST00000479388.1_Missense_Mutation_p.R226C|KLC4_ENST00000453940.2_Missense_Mutation_p.R149C|KLC4_ENST00000347162.5_Missense_Mutation_p.R226C|KLC4_ENST00000458460.2_Missense_Mutation_p.R226C|KLC4_ENST00000394058.1_Missense_Mutation_p.R226C			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	226						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AGCCCAAGGTCGCTATGAGGT	0.597																																						ENST00000394056.2																			0				endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23						c.(676-678)Cgc>Tgc		kinesin light chain 4							153	125	135					6																	43034148		2203	4300	6503	SO:0001583	missense	89953					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr6:43034148C>T	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"Tetratricopeptide (TTC) repeat domain containing"	21624	protein-coding gene	gene with protein product			"kinesin-like 8"	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.676C>T	6.37:g.43034148C>T	ENSP00000377620:p.Arg226Cys		Somatic				KLC4_ENST00000394058.1_Missense_Mutation_p.R226C|KLC4_ENST00000259708.3_Missense_Mutation_p.R244C|KLC4_ENST00000347162.5_Missense_Mutation_p.R226C|KLC4_ENST00000453940.2_Missense_Mutation_p.R149C|KLC4_ENST00000458460.2_Missense_Mutation_p.R226C|KLC4_ENST00000479388.1_Missense_Mutation_p.R226C	p.R226C			WXS	Illumina GAIIx	Phase_I	Q9NSK0	KLC4_HUMAN	all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)		6	1171	+			226					B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	c.676C>T	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734544	0.69189	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000479632;ENST00000470728;ENST00000458460;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	4.47	4.47	0.54385	Tetratricopeptide-like helical (1);Rabaptin, GTPase-Rab5 binding (1);Tetratricopeptide repeat-containing (1);	0.329961	0.26658	N	0.023176	T	0.69233	0.3088	M	0.87617	2.895	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.997;0.995;1.0	D;P;P;D	0.77004	0.989;0.799;0.684;0.923	T	0.74743	-0.3562	10	0.87932	D	0	-19.0161	12.4036	0.55426	0.1683:0.8317:0.0:0.0	.	149;244;226;226	B4DME9;Q9NSK0-3;Q9NSK0;Q96EG6	.;.;KLC4_HUMAN;.	C	226;149;139;204;226;244;226;226;226	ENSP00000340221:R226C;ENSP00000395806:R149C;ENSP00000419784:R139C;ENSP00000417652:R204C;ENSP00000410358:R226C;ENSP00000259708:R244C;ENSP00000418031:R226C;ENSP00000377620:R226C;ENSP00000377622:R226C	ENSP00000259708:R244C	R	+	1	0	KLC4	43142126	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	2.816000	0.48026	2.473000	0.83533	0.650000	0.86243	CGC		0.597	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		43	84	0	0	0	1	0	43	84					T	43034148	C	T	43034148	3	4	21	1	0	0	0	0	1	0	0	0	8345	884	31	1	748	1	KLC4	6	43034148	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	997824	43034148	128080919	250	1675										
KLHL31	401265	broad.mit.edu	37	chr6	53517031	53517031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttctgcgttgcggccgcccgCggcgtacacgagcccgttga	14	15	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:53517031C>T	ENST00000407079.1	-	2	1269	c.1270G>A	c.(1270-1272)Gcg>Acg	p.A424T	KLHL31_ENST00000370905.3_Missense_Mutation_p.A424T			Q9H511	KLH31_HUMAN	kelch-like family member 31	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CGGCCGCCCGCGGCGTACACG	0.647																																						ENST00000370905.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(1270-1272)Gcg>Acg		kelch-like family member 31							52	55	54					6																	53517031		2203	4300	6503	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53517031C>T		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"Kelch-like", "BTB/POZ domain containing"	21353	protein-coding gene	gene with protein product		610749	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1270G>A	6.37:g.53517031C>T	ENSP00000384644:p.Ala424Thr		Somatic				KLHL31_ENST00000407079.1_Missense_Mutation_p.A424T	p.A424T	NM_001003760.4	NP_001003760.2	WXS	Illumina GAIIx	Phase_I	Q9H511	KLH31_HUMAN			3	1410	-	Lung NSC(77;0.0158)		424					A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.1270G>A	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187323	0.38609	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.77750	-1.12;-1.12	5.69	2.88	0.33553	Galactose oxidase, beta-propeller (1);	0.597834	0.18818	N	0.130320	T	0.39489	0.1080	N	0.17312	0.475	0.09310	N	1	B	0.30526	0.283	B	0.26202	0.067	T	0.20706	-1.0267	10	0.49607	T	0.09	.	6.7793	0.23636	0.0:0.6687:0.1266:0.2047	.	424	Q9H511	KLH31_HUMAN	T	424	ENSP00000359942:A424T;ENSP00000384644:A424T	ENSP00000359942:A424T	A	-	1	0	KLHL31	53624990	0.736000	0.28164	0.095000	0.20976	0.977000	0.68977	1.375000	0.34295	0.730000	0.32425	0.650000	0.86243	GCG		0.647	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		41	109	0	0	0	1	0	41	109					T	53517031	C	T	53517031	3	4	21	1	0	0	0	0	1	0	0	0	8394	768	27	1	638	1	KLHL31	6	53517031	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	10482883	53517031	117598036	251	1676										
LRRC1	55227	broad.mit.edu	37	chr6	53787465	53787465	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggcgagccactccacacccAggggagttaaagcacatgaa	11	12	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:53787465A>G	ENST00000370888.1	+	14	1726	c.1449A>G	c.(1447-1449)ccA>ccG	p.P483P	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	483						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CTCCACACCCAGGGGAGTTAA	0.413																																						ENST00000370888.1																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1447-1449)ccA>ccG		leucine rich repeat containing 1							155	154	154					6																	53787465		1896	4120	6016	SO:0001819	synonymous_variant	55227					cytoplasm|membrane		g.chr6:53787465A>G	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1449A>G	6.37:g.53787465A>G			Somatic					p.P483P	NM_018214.4	NP_060684.4	WXS	Illumina GAIIx	Phase_I	Q9BTT6	LRRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0745)	14	1726	+	Lung NSC(77;0.0147)		483					Q5TGN3|Q9HAC0|Q9NVF1	Silent	SNP	ENST00000370888.1	37	c.1449A>G	CCDS4953.2																																																																																				0.413	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		76	217	0	0	0	1	0	76	217					G	53787465	A	G	53787465	2	3	21	1	0	0	0	0	0	0	0	1	8975	175	7	4		4	LRRC1	6	53787465	Silent	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	270434	53787465	117327602	252	1677										
SLC17A5	26503	broad.mit.edu	37	chr6	74363524	74363524	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cccgccgcttaccggcttcgGcccgtggggcgcccggtaga	15	17	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:74363524G>A	ENST00000355773.5	-	1	354	c.86C>T	c.(85-87)gCc>gTc	p.A29V	SLC17A5_ENST00000393019.3_Missense_Mutation_p.A29V	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	29					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						ACCGGCTTCGGCCCGTGGGGC	0.726																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(85-87)gCc>gTc		solute carrier family 17 (acidic sugar transporter), member 5							8	10	9					6																	74363524		2104	4180	6284	SO:0001583	missense	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74363524G>A	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.86C>T	6.37:g.74363524G>A	ENSP00000348019:p.Ala29Val		Somatic				SLC17A5_ENST00000393019.3_Missense_Mutation_p.A29V	p.A29V	NM_012434.4	NP_036566.1	WXS	Illumina GAIIx	Phase_I	Q9NRA2	S17A5_HUMAN			1	354	-			29					Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	c.86C>T	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	G	6.158	0.397349	0.11638	.	.	ENSG00000119899	ENST00000355773;ENST00000393019	T;T	0.59638	0.25;0.25	4.34	-0.0321	0.13906	Major facilitator superfamily domain, general substrate transporter (1);	24.022100	0.00496	N	0.000156	T	0.12944	0.0314	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05835	-1.0861	10	0.16420	T	0.52	.	4.2948	0.10895	0.3301:0.2237:0.4462:0.0	.	29	Q9NRA2	S17A5_HUMAN	V	29	ENSP00000348019:A29V;ENSP00000376742:A29V	ENSP00000348019:A29V	A	-	2	0	SLC17A5	74420245	0.003000	0.15002	0.198000	0.23420	0.005000	0.04900	0.494000	0.22467	0.144000	0.18951	-0.258000	0.10820	GCC		0.726	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			13	4	0	0	0	1	0	13	4					A	74363524	G	A	74363524	3	1	21	1	0	0	0	0	1	0	0	0	14435	1203	42	3	1445	3	SLC17A5	6	74363524	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	20576059	74363524	96751543	253	1678										
MYO6	4646	broad.mit.edu	37	chr6	76624710	76624710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cacctatgcaacagccatgcTgcagagtctgttaaagtaga	9	10	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:76624710T>C	ENST00000369977.3	+	35	3978	c.3839T>C	c.(3838-3840)cTg>cCg	p.L1280P	MYO6_ENST00000369985.4_Missense_Mutation_p.L1257P|MYO6_ENST00000369981.3_Missense_Mutation_p.L1281P|MYO6_ENST00000369975.1_Missense_Mutation_p.L1248P	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1289					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)		ACAGCCATGCTGCAGAGTCTG	0.512																																						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.(3841-3843)cTg>cCg		myosin VI							49	46	47					6																	76624710		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.chr6:76624710T>C	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.3839T>C	6.37:g.76624710T>C	ENSP00000358994:p.Leu1280Pro		Somatic				MYO6_ENST00000369985.4_Missense_Mutation_p.L1257P|MYO6_ENST00000369975.1_Missense_Mutation_p.L1248P|MYO6_ENST00000369977.3_Missense_Mutation_p.L1280P	p.L1281P			WXS	Illumina GAIIx	Phase_I	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	35	4121	+		all_hematologic(105;0.189)	1289					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.3842T>C	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.895454	0.52121	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.91894	-2.82;-2.86;-2.81;-2.93	6.07	6.07	0.98685	.	0.180510	0.36893	N	0.002354	D	0.94470	0.8220	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95079	0.8211	10	0.72032	D	0.01	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	1257;1280	Q9UM54-2;Q9UM54-1	.;.	P	1290;1281;1257;1280;1248	ENSP00000358998:L1281P;ENSP00000359002:L1257P;ENSP00000358994:L1280P;ENSP00000358992:L1248P	ENSP00000358992:L1248P	L	+	2	0	MYO6	76681430	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	7.676000	0.84012	2.326000	0.78906	0.533000	0.62120	CTG		0.512	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		22	13	0	0	0	1	0	22	13					C	76624710	T	C	76624710	3	2	21	1	0	0	0	0	1	0	0	0	10090	1580	55	4	3973	4	MYO6	6	76624710	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2261186	76624710	94490357	254	1679										
PHIP	55023	broad.mit.edu	37	chr6	79711725	79711726	+	Frame_Shift_Ins	INS	-	-	A													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggttaccatcaacatcaaccINSaaaaaagggggaggcataag							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:79711725_79711726insA	ENST00000275034.4	-	17	1936_1937	c.1769_1770insT	c.(1768-1770)ttgfs	p.L590fs		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	590					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)		CAACATCAACCAAAAAAGGGGG	0.426																																						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.(1768-1770)tgtfs		pleckstrin homology domain interacting protein																																				SO:0001589	frameshift_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.chr6:79711725_79711726insA	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.1770dupT	6.37:g.79711731_79711731dupA	ENSP00000275034:p.Leu590fs		Somatic					p.C590fs	NM_017934.5	NP_060404.3	WXS	Illumina GAIIx	Phase_I	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	17	1936_1937	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	590					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Frame_Shift_Ins	INS	ENST00000275034.4	37	c.1769_1770insT	CCDS4987.1																																																																																				0.426	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			38	95						38	95	---	---	---	---	A	79711726	-	A	79711725	7	5	21	1	0	1	1	0	0	0	0	0	11851	593	21	0	3791	0	PHIP	6	79711725	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	3087015	79711725	91403342	255	1680										
DOPEY1	23033	broad.mit.edu	37	chr6	83806836	83806836	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acttggaaaacttaataaggTatgtctgtattatccatttc	6	6	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:83806836T>C	ENST00000349129.2	+	3	398		c.e3+2		DOPEY1_ENST00000369739.3_Splice_Site|DOPEY1_ENST00000536812.1_Splice_Site|DOPEY1_ENST00000237163.5_Splice_Site	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1						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)		CTTAATAAGGTATGTCTGTAT	0.308																																						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.e3+2		dopey family member 1							118	132	127					6																	83806836		2203	4300	6503	SO:0001630	splice_region_variant	23033				protein transport			g.chr6:83806836T>C	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.138+2T>C	6.37:g.83806836T>C			Somatic				DOPEY1_ENST00000369739.3_Splice_Site|DOPEY1_ENST00000536812.1_Splice_Site|DOPEY1_ENST00000237163.5_Splice_Site		NM_015018.3	NP_055833.2	WXS	Illumina GAIIx	Phase_I	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	3	398	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)						Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Splice_Site	SNP	ENST00000349129.2	37		CCDS4996.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.982128	0.74474	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000536812;ENST00000369739	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4931	0.75629	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOPEY1	83863555	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.634000	0.83273	2.062000	0.61559	0.383000	0.25322	.		0.308	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018	Intron	117	81	0	0	0	1	0	117	81					C	83806836	T	C	83806836	5	2	21	1	0	0	0	0	0	0	1	0	4709	1652	57	4	142	4	DOPEY1	6	83806836	Splice_Site	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	4095111	83806836	87308231	256	1681										
ZNF292	23036	broad.mit.edu	37	chr6	87970974	87970974	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aaaaaaatgtctcacaaaatAaaaaaaggaaagttgaaaaa							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:87970974delA	ENST00000369577.3	+	8	7670	c.7627delA	c.(7627-7629)aaafs	p.K2544fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.K2539fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2544						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)		CTCACAAAATAAAAAAAGGAA	0.358																																						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.(7627-7629)aafs		zinc finger protein 292							42	41	41					6																	87970974		1820	4073	5893	SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87970974delA	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.7627delA	6.37:g.87970974delA	ENSP00000358590:p.Lys2544fs		Somatic				ZNF292_ENST00000339907.4_Frame_Shift_Del_p.K2539fs	p.K2544fs	NM_015021.1	NP_055836.1	WXS	Illumina GAIIx	Phase_I	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	7670	+		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)	2544					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.7627delA	CCDS47457.1																																																																																				0.358	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		37	40						37	40	---	---	---	---	-	87970974	A	-	87970974	7	5	21	1	0	1	0	1	0	0	0	0	17841	363	13	0	7657	0	ZNF292	6	87970974	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	4164138	87970974	83144093	257	1682										
POU3F2	5454	broad.mit.edu	37	chr6	99283719	99283719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcttcaagaacatgtgcaagCtgaagcctttgttgaacaag	10	8	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:99283719C>T	ENST00000328345.5	+	1	1140	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	324	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L324L(1)		endometrium(2)|large_intestine(3)|lung(5)	10		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;0.0355)		CATGTGCAAGCTGAAGCCTTT	0.587																																						ENST00000328345.5																			1	Substitution - coding silent(1)	p.L324L(1)	large_intestine(1)	endometrium(2)|large_intestine(3)|lung(5)	10						c.(970-972)Ctg>Ttg		POU class 3 homeobox 2							135	137	136					6																	99283719		2203	4300	6503	SO:0001819	synonymous_variant	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99283719C>T	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.970C>T	6.37:g.99283719C>T			Somatic					p.L324L	NM_005604.3	NP_005595.2	WXS	Illumina GAIIx	Phase_I	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	1140	+		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)	324			POU-specific.		Q14960|Q86V54|Q9UJL0	Silent	SNP	ENST00000328345.5	37	c.970C>T	CCDS5040.1																																																																																				0.587	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			237	163	0	0	0	1	0	237	163					T	99283719	C	T	99283719	2	4	21	1	0	0	0	0	0	0	0	1	12284	796	28	3		3	POU3F2	6	99283719	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	11312745	99283719	71831348	258	1683										
SIM1	6492	broad.mit.edu	37	chr6	100896035	100896035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gccttacgcaaatggtgcgcGcagcgcaggtggaaggtgtc	16	10	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:100896035G>A	ENST00000369208.3	-	8	1619	c.837C>T	c.(835-837)tgC>tgT	p.C279C	SIM1_ENST00000262901.4_Silent_p.C279C			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	279	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AATGGTGCGCGCAGCGCAGGT	0.622																																						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.(835-837)tgC>tgT		single-minded family bHLH transcription factor 1							105	78	87					6																	100896035		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.chr6:100896035G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.837C>T	6.37:g.100896035G>A			Somatic				SIM1_ENST00000262901.4_Silent_p.C279C	p.C279C			WXS	Illumina GAIIx	Phase_I	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	8	1619	-		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)	279			PAS 2.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.837C>T	CCDS5045.1																																																																																				0.622	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		12	28	0	0	0	1	0	12	28					A	100896035	G	A	100896035	2	1	21	1	0	0	0	0	0	0	0	1	14338	1079	38	1		1	SIM1	6	100896035	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1612316	100896035	70219032	259	1684										
GRIK2	2898	broad.mit.edu	37	chr6	102372596	102372596	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggagctctcatgcagcaaggTatacgattcagcctgctatt	10	10	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:102372596T>C	ENST00000421544.1	+	12	2357		c.e12+2		GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000318991.6_Splice_Site|GRIK2_ENST00000413795.1_Splice_Site|GRIK2_ENST00000369138.1_Splice_Site|GRIK2_ENST00000369134.4_Splice_Site	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2						behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGCAGCAAGGTATACGATTCA	0.498																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.e12+2		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						114	104	107					6																	102372596		2203	4300	6503	SO:0001630	splice_region_variant	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102372596T>C		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1867+2T>C	6.37:g.102372596T>C			Somatic				GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000369134.4_Splice_Site|GRIK2_ENST00000318991.6_Splice_Site|GRIK2_ENST00000421544.1_Splice_Site|GRIK2_ENST00000413795.1_Splice_Site		NM_001166247.1	NP_001159719.1	WXS	Illumina GAIIx	Phase_I	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	12	2357	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)						A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Splice_Site	SNP	ENST00000421544.1	37		CCDS5048.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329245	0.81690	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000318991;ENST00000369134	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0769	0.80974	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRIK2	102479289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.203000	0.70933	0.482000	0.46254	.		0.498	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		Intron	16	45	0	0	0	1	0	16	45					C	102372596	T	C	102372596	5	2	21	1	0	0	0	0	0	0	1	0	6783	1652	57	4	1915	4	GRIK2	6	102372596	Splice_Site	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1476561	102372596	68742471	260	1685										
AIM1	202	broad.mit.edu	37	chr6	107008716	107008716	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggcagttacagagggcgacAgttcctattgtcacctgcag	12	10	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:107008716A>C	ENST00000369066.3	+	17	5157	c.4670A>C	c.(4669-4671)cAg>cCg	p.Q1557P	AIM1_ENST00000535438.1_Missense_Mutation_p.Q376P	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGAGGGCGACAGTTCCTATTG	0.403																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(4669-4671)cAg>cCg		absent in melanoma 1							148	143	144					6																	107008716		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:107008716A>C	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.4670A>C	6.37:g.107008716A>C	ENSP00000358062:p.Gln1557Pro		Somatic				AIM1_ENST00000535438.1_Missense_Mutation_p.Q376P	p.Q1557P	NM_001624.2	NP_001615.1	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)	17	5157	+	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)	1557			Beta/gamma crystallin 'Greek key' 12.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.4670A>C	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.531639	0.85706	.	.	ENSG00000112297	ENST00000369066;ENST00000535438	T;T	0.80566	-1.39;-1.39	6.06	6.06	0.98353	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.91821	0.7412	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93905	0.7192	10	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	376;1557	B4DU04;Q9Y4K1	.;AIM1_HUMAN	P	1557;376	ENSP00000358062:Q1557P;ENSP00000439183:Q376P	ENSP00000358062:Q1557P	Q	+	2	0	AIM1	107115409	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.695000	0.84257	2.324000	0.78689	0.533000	0.62120	CAG		0.403	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			87	57	0	0	0	1	0	87	57					C	107008716	A	C	107008716	3	2	21	1	0	0	0	0	1	0	0	0	430	188	7	4	4736	4	AIM1	6	107008716	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	4636120	107008716	64106351	261	1686										
SLC16A10	117247	broad.mit.edu	37	chr6	111409147	111409147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccccatgagccccccgaaccCcccgagggcggctggggctg	14	19	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:111409147C>T	ENST00000368851.5	+	1	367	c.192C>T	c.(190-192)ccC>ccT	p.P64P		NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	64					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)	CCCCCGAACCCCCCGAGGGCG	0.731																																						ENST00000368851.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(190-192)ccC>ccT		solute carrier family 16 (aromatic amino acid transporter), member 10							15	16	15					6																	111409147		2157	4232	6389	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.chr6:111409147C>T	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"Solute carriers"	17027	protein-coding gene	gene with protein product		607550	"solute carrier family 16 (monocarboxylic acid transporters), member 10"			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.192C>T	6.37:g.111409147C>T			Somatic					p.P64P	NM_018593.4	NP_061063.2	WXS	Illumina GAIIx	Phase_I	Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	1	367	+		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)	64					B3KWY0|Q6ZMG0|Q8WVI5	Silent	SNP	ENST00000368851.5	37	c.192C>T	CCDS5089.1																																																																																				0.731	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			16	35	0	0	0	1	0	16	35					T	111409147	C	T	111409147	2	4	21	1	0	0	0	0	0	0	0	1	14418	610	22	3		3	SLC16A10	6	111409147	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	4400431	111409147	59705920	262	1687										
PTPRK	5796	broad.mit.edu	37	chr6	128410948	128410948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcagatggttcacaacatgcTgaggggctttggggtccatg	15	8	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:128410948T>C	ENST00000368215.3	-	8	1351	c.1352A>G	c.(1351-1353)cAg>cGg	p.Q451R	PTPRK_ENST00000532331.1_Missense_Mutation_p.Q451R|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368227.3_Missense_Mutation_p.Q451R|PTPRK_ENST00000368207.3_Missense_Mutation_p.Q451R|PTPRK_ENST00000368210.3_Missense_Mutation_p.Q451R|PTPRK_ENST00000368226.4_Missense_Mutation_p.Q451R|PTPRK_ENST00000368213.5_Missense_Mutation_p.Q451R			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	451	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CACAACATGCTGAGGGGCTTT	0.468																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(1351-1353)cAg>cGg		protein tyrosine phosphatase, receptor type, K							193	163	173					6																	128410948		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128410948T>C	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1352A>G	6.37:g.128410948T>C	ENSP00000357198:p.Gln451Arg		Somatic				PTPRK_ENST00000368215.3_Missense_Mutation_p.Q451R|PTPRK_ENST00000368207.3_Missense_Mutation_p.Q451R|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.Q451R|PTPRK_ENST00000368213.5_Missense_Mutation_p.Q451R|PTPRK_ENST00000532331.1_Missense_Mutation_p.Q451R|PTPRK_ENST00000368226.4_Missense_Mutation_p.Q451R	p.Q451R			WXS	Illumina GAIIx	Phase_I	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	8	1718	-			451			Fibronectin type-III 2.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.1352A>G		.	.	.	.	.	.	.	.	.	.	T	6.612	0.481382	0.12581	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.73	5.73	0.89815	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.125563	0.56097	D	0.000026	T	0.08582	0.0213	N	0.01771	-0.73	0.46396	D	0.999028	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	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.24368	-1.0162	10	0.05351	T	0.99	.	16.011	0.80404	0.0:0.0:0.0:1.0	.	451;451;451;308;451;451	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	R	451;451;451;451;451;451;451;308	ENSP00000357209:Q451R;ENSP00000357210:Q451R;ENSP00000432973:Q451R;ENSP00000357196:Q451R;ENSP00000357193:Q451R;ENSP00000357198:Q451R;ENSP00000357190:Q451R	ENSP00000357190:Q451R	Q	-	2	0	PTPRK	128452641	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.087000	0.71362	2.185000	0.69588	0.477000	0.44152	CAG		0.468	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			91	48	0	0	0	1	0	91	48					C	128410948	T	C	128410948	3	2	21	1	0	0	0	0	1	0	0	0	12820	1580	55	4	3084	4	PTPRK	6	128410948	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	17001801	128410948	42704119	263	1688										
ENPP1	5167	broad.mit.edu	37	chr6	132171156	132171156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gttgcaaaggtcgctgtttcGagagaacatttgggaactgt	13	6	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:132171156G>A	ENST00000360971.2	+	3	360	c.340G>A	c.(340-342)Gag>Aag	p.E114K		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	114	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				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.E62*(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)	TCGCTGTTTCGAGAGAACATT	0.383																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			1	Substitution - Nonsense(1)	p.E62*(1)	lung(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.(340-342)Gag>Aag		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						142	133	136					6																	132171156		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.chr6:132171156G>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.340G>A	6.37:g.132171156G>A	ENSP00000354238:p.Glu114Lys		Somatic					p.E114K	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)	3	360	+	Breast(56;0.0505)		114			SMB 1.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.340G>A	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	32	5.132674	0.94517	.	.	ENSG00000197594	ENST00000360971	T	0.48836	0.8	5.43	5.43	0.79202	Somatomedin B domain (3);Somatomedin B, chordata (1);	0.273739	0.32190	N	0.006452	T	0.67021	0.2849	M	0.81497	2.545	0.53005	D	0.999963	D	0.89917	1.0	D	0.79784	0.993	T	0.70842	-0.4762	10	0.87932	D	0	-20.2667	18.3772	0.90439	0.0:0.0:1.0:0.0	.	114	P22413	ENPP1_HUMAN	K	114	ENSP00000354238:E114K	ENSP00000354238:E114K	E	+	1	0	ENPP1	132212849	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.347000	0.73004	2.712000	0.92718	0.650000	0.86243	GAG		0.383	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			67	53	0	0	0	1	0	67	53					A	132171156	G	A	132171156	3	1	21	1	0	0	0	0	1	0	0	0	5131	1059	37	1	350	1	ENPP1	6	132171156	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3760208	132171156	38943911	264	1689										
HBS1L	10767	broad.mit.edu	37	chr6	135287507	135287507	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctattgtagaaccaccgtaaCgtagcatgaacctccccagc	7	14	0	2	rs370235823		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:135287507C>G	ENST00000367837.5	-	17	2209	c.2003G>C	c.(2002-2004)cGt>cCt	p.R668P	HBS1L_ENST00000527578.1_Missense_Mutation_p.R504P|HBS1L_ENST00000415177.2_Missense_Mutation_p.R603P|HBS1L_ENST00000367824.4_Missense_Mutation_p.R504P|HBS1L_ENST00000367826.2_Missense_Mutation_p.R626P|HBS1L_ENST00000445176.2_Missense_Mutation_p.R392P	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	668					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)	p.R668P(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		ACCACCGTAACGTAGCATGAA	0.378																																						ENST00000367837.5																			1	Substitution - Missense(1)	p.R668P(1)	upper_aerodigestive_tract(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20						c.(2002-2004)cGt>cCt		HBS1-like (S. cerevisiae)							151	141	144					6																	135287507		2203	4300	6503	SO:0001583	missense	10767				signal transduction		GTP binding|GTPase activity|translation elongation factor activity	g.chr6:135287507C>G	U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.2003G>C	6.37:g.135287507C>G	ENSP00000356811:p.Arg668Pro		Somatic				HBS1L_ENST00000367826.2_Missense_Mutation_p.R626P|HBS1L_ENST00000415177.2_Missense_Mutation_p.R603P|HBS1L_ENST00000527578.1_Missense_Mutation_p.R504P|HBS1L_ENST00000367824.4_Missense_Mutation_p.R504P|HBS1L_ENST00000445176.2_Missense_Mutation_p.R392P	p.R668P	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	WXS	Illumina GAIIx	Phase_I	Q9Y450	HBS1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)	17	2209	-	Colorectal(23;0.221)		668					B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	c.2003G>C	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900437	0.92035	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	T;T;T;T;T;T;T	0.72505	-0.63;-0.57;-0.56;-0.66;-0.57;-0.62;0.52	5.83	5.83	0.93111	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90266	0.6956	H	0.97962	4.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93087	0.6496	10	0.87932	D	0	-11.2644	20.1162	0.97934	0.0:1.0:0.0:0.0	.	626;668	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	P	668;504;603;626;504;538;392	ENSP00000356811:R668P;ENSP00000436256:R504P;ENSP00000389826:R603P;ENSP00000356800:R626P;ENSP00000356798:R504P;ENSP00000434533:R538P;ENSP00000415305:R392P	ENSP00000356798:R504P	R	-	2	0	HBS1L	135329200	1.000000	0.71417	0.962000	0.40283	0.857000	0.48899	7.265000	0.78442	2.757000	0.94681	0.563000	0.77884	CGT		0.378	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2			45	126	0	0	0	1	0	45	126					G	135287507	C	G	135287507	3	3	21	1	0	0	0	0	1	0	0	0	6996	536	19	5	59	5	HBS1L	6	135287507	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3116351	135287507	35827560	265	1690										
AHI1	54806	broad.mit.edu	37	chr6	135811796	135811796	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agacctgacaagttttttctTcagttttttcttttcacgca	5	9	4	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:135811796T>C	ENST00000367800.4	-	3	316	c.100A>G	c.(100-102)Aag>Gag	p.K34E	AHI1_ENST00000488690.2_Missense_Mutation_p.K34E|AHI1_ENST00000534469.1_Missense_Mutation_p.K34E|AHI1_ENST00000528103.1_Missense_Mutation_p.K34E|AHI1_ENST00000531527.1_5'Flank|AHI1_ENST00000457866.2_Missense_Mutation_p.K34E|AHI1_ENST00000367798.2_Missense_Mutation_p.K34E|AHI1_ENST00000327035.6_Missense_Mutation_p.K34E	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	34					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)		AGTTTTTTCTTCAGTTTTTTC	0.348																																						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.(100-102)Aag>Gag		Abelson helper integration site 1							205	190	194					6																	135811796		1824	4074	5898	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135811796T>C	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.100A>G	6.37:g.135811796T>C	ENSP00000356774:p.Lys34Glu		Somatic				AHI1_ENST00000367798.2_Missense_Mutation_p.K34E|AHI1_ENST00000534469.1_Missense_Mutation_p.K34E|AHI1_ENST00000457866.2_Missense_Mutation_p.K34E|AHI1_ENST00000327035.6_Missense_Mutation_p.K34E|AHI1_ENST00000488690.2_Missense_Mutation_p.K34E|AHI1_ENST00000528103.1_Missense_Mutation_p.K34E	p.K34E	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)	3	316	-	Breast(56;0.239)|Colorectal(23;0.24)		34					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.100A>G	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.246561	0.22796	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469;ENST00000488690;ENST00000367798;ENST00000528103;ENST00000534469	T;T;T;T;T	0.55588	1.02;1.02;1.02;1.02;0.51	4.97	3.77	0.43336	.	0.501889	0.17870	N	0.159216	T	0.33556	0.0867	L	0.54323	1.7	0.30008	N	0.815405	P;P	0.49961	0.93;0.884	P;B	0.45276	0.475;0.283	T	0.16778	-1.0391	10	0.66056	D	0.02	-5.9354	8.6188	0.33849	0.0:0.0:0.1943:0.8057	.	34;34	Q8N157-2;Q8N157	.;AHI1_HUMAN	E	34	ENSP00000356774:K34E;ENSP00000388650:K34E;ENSP00000265602:K34E;ENSP00000322478:K34E;ENSP00000433063:K34E	ENSP00000265602:K34E	K	-	1	0	AHI1	135853489	0.980000	0.34600	0.983000	0.44433	0.214000	0.24535	1.950000	0.40323	0.710000	0.31997	0.455000	0.32223	AAG		0.348	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		39	96	0	0	0	1	0	39	96					C	135811796	T	C	135811796	3	2	21	1	0	0	0	0	1	0	0	0	413	1792	62	4	3647	4	AHI1	6	135811796	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	524289	135811796	35303271	266	1691										
MAP3K5	4217	broad.mit.edu	37	chr6	136990430	136990430	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gttgtaattaccaactttccGgagctcaaaggaagattcaa	8	8	2	1	rs376994168		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:136990430G>C	ENST00000359015.4	-	8	1717	c.1357C>G	c.(1357-1359)Cgg>Ggg	p.R453G		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	453					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)		CCAACTTTCCGGAGCTCAAAG	0.393																																						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.(1357-1359)Cgg>Ggg		mitogen-activated protein kinase kinase kinase 5							122	129	127					6																	136990430		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136990430G>C	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.1357C>G	6.37:g.136990430G>C	ENSP00000351908:p.Arg453Gly		Somatic					p.R453G	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	1717	-	Colorectal(23;0.24)		453					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.1357C>G	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593658	0.86953	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.11604	2.76	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.28764	0.0713	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.997	T	0.03157	-1.1066	10	0.87932	D	0	.	19.3781	0.94519	0.0:0.0:1.0:0.0	.	533;298;453	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	G	453;533	ENSP00000351908:R453G	ENSP00000351908:R453G	R	-	1	2	MAP3K5	137032123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.580000	0.87095	0.650000	0.86243	CGG		0.393	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			41	105	0	0	0	1	0	41	105					C	136990430	G	C	136990430	3	2	21	1	0	0	0	0	1	0	0	0	9262	1115	39	5	2859	5	MAP3K5	6	136990430	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1178634	136990430	34124637	267	1692										
SHPRH	257218	broad.mit.edu	37	chr6	146209222	146209222	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttgctttaattaagaatctgTgtacaatagtaggtctaaaa	7	4	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:146209222T>C	ENST00000367505.2	-	29	5153	c.4889A>G	c.(4888-4890)cAc>cGc	p.H1630R	SHPRH_ENST00000438092.2_Missense_Mutation_p.H1634R|SHPRH_ENST00000367503.3_Missense_Mutation_p.H1634R|RP11-545I5.3_ENST00000606388.1_RNA|SHPRH_ENST00000275233.7_Missense_Mutation_p.H1630R			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1630	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)		TAAGAATCTGTGTACAATAGT	0.323																																						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.(4900-4902)cAc>cGc		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							132	118	122					6																	146209222		1811	4084	5895	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146209222T>C	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.4889A>G	6.37:g.146209222T>C	ENSP00000356475:p.His1630Arg		Somatic				SHPRH_ENST00000438092.2_Missense_Mutation_p.H1634R|SHPRH_ENST00000275233.7_Missense_Mutation_p.H1630R|SHPRH_ENST00000367505.2_Missense_Mutation_p.H1630R	p.H1634R	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)	29	5299	-		Ovarian(120;0.0365)	1630			Helicase C-terminal.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.4901A>G	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	17.34	3.365854	0.61513	.	.	ENSG00000146414	ENST00000417762;ENST00000367507;ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.18	5.18	0.71444	Helicase, C-terminal (1);	0.069902	0.56097	D	0.000029	T	0.67335	0.2882	L	0.56396	1.775	0.80722	D	1	P;P	0.43633	0.716;0.813	B;P	0.44422	0.262;0.449	T	0.67476	-0.5661	10	0.25106	T	0.35	-9.4596	13.5748	0.61868	0.0:0.0:0.0:1.0	.	1630;1634	Q149N8;Q149N8-4	SHPRH_HUMAN;.	R	52;78;1630;1634;1634;1630	ENSP00000403790:H52R;ENSP00000356475:H1630R;ENSP00000356473:H1634R;ENSP00000412797:H1634R;ENSP00000275233:H1630R	ENSP00000275233:H1630R	H	-	2	0	SHPRH	146250915	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.605000	0.82844	1.926000	0.55796	0.477000	0.44152	CAC		0.323	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		9	34	0	0	0	1	0	9	34					C	146209222	T	C	146209222	3	2	21	1	0	0	0	0	1	0	0	0	14306	1696	59	4	187	4	SHPRH	6	146209222	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	9218792	146209222	24905845	268	1693										
SYNE1	23345	broad.mit.edu	37	chr6	152738148	152738148	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctctctacttctgctgcgtgGtcctggaagggaagagagag	14	9	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:152738148G>T	ENST00000367255.5	-	41	6025	c.5424C>A	c.(5422-5424)gaC>gaA	p.D1808E	SYNE1_ENST00000341594.5_Missense_Mutation_p.D1845E|SYNE1_ENST00000265368.4_Missense_Mutation_p.D1808E|SYNE1_ENST00000423061.1_Missense_Mutation_p.D1815E|SYNE1_ENST00000448038.1_Missense_Mutation_p.D1815E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1808					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)		CTGCTGCGTGGTCCTGGAAGG	0.483										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(5422-5424)gaC>gaA		spectrin repeat containing, nuclear envelope 1							83	83	83					6																	152738148		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.chr6:152738148G>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.5424C>A	6.37:g.152738148G>T	ENSP00000356224:p.Asp1808Glu	HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000448038.1_Missense_Mutation_p.D1815E|SYNE1_ENST00000423061.1_Missense_Mutation_p.D1815E|SYNE1_ENST00000265368.4_Missense_Mutation_p.D1808E|SYNE1_ENST00000341594.5_Missense_Mutation_p.D1845E	p.D1808E	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)	41	6025	-		Ovarian(120;0.0955)	1808					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.5424C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848690	0.32699	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	6.16	3.46	0.39613	.	0.172347	0.40818	N	0.001012	T	0.04092	0.0114	N	0.24115	0.695	0.80722	D	1	P;B;B;B	0.40731	0.728;0.013;0.013;0.024	B;B;B;B	0.28849	0.095;0.004;0.004;0.011	T	0.20505	-1.0273	10	0.02654	T	1	.	7.2247	0.26007	0.1936:0.0:0.6848:0.1216	.	1791;1808;1808;1815	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	E	1808;1815;1808;1815;1845	ENSP00000356224:D1808E;ENSP00000396024:D1815E;ENSP00000265368:D1808E;ENSP00000390975:D1815E;ENSP00000341887:D1845E	ENSP00000265368:D1808E	D	-	3	2	SYNE1	152779841	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	1.185000	0.32065	0.950000	0.37743	0.650000	0.86243	GAC		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		95	66	1	0	2.56585e-57	1	2.91483e-57	95	66					T	152738148	G	T	152738148	3	4	21	1	0	0	0	0	1	0	0	0	15460	1252	44	5	21466	5	SYNE1	6	152738148	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	6528926	152738148	18376919	269	1694										
MYCT1	80177	broad.mit.edu	37	chr6	153043291	153043291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cacttcccacagtctgagccGtcctgactactggtccagta	8	15	1	2	rs375330501		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:153043291G>A	ENST00000367245.5	+	2	619	c.611G>A	c.(610-612)cGt>cAt	p.R204H	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	204						nucleus (GO:0005634)		p.R204H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		AGTCTGAGCCGTCCTGACTAC	0.532																																						ENST00000367245.5																			1	Substitution - Missense(1)	p.R204H(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(610-612)cGt>cAt		myc target 1		G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	111	106	108		611	5.8	0.5	6		108	0,8600		0,0,4300	no	missense	MYCT1	NM_025107.2	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	204/236	153043291	3,13003	2203	4300	6503	SO:0001583	missense	80177					nucleus		g.chr6:153043291G>A	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.611G>A	6.37:g.153043291G>A	ENSP00000356214:p.Arg204His		Somatic				MYCT1_ENST00000529453.1_Intron	p.R204H	NM_025107.2	NP_079383.2	WXS	Illumina GAIIx	Phase_I	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	619	+		Ovarian(120;0.0654)	204					Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.611G>A	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.40|16.40	3.112581|3.112581	0.56398|0.56398	6.81E-4|6.81E-4	0.0|0.0	ENSG00000120279|ENSG00000120279	ENST00000367245|ENST00000532295	T|.	0.53857|.	0.6|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.166647|.	0.52532|.	D|.	0.000078|.	T|T	0.55752|0.55752	0.1940|0.1940	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B;B|.	0.32939|.	0.391;0.391|.	B;B|.	0.24541|.	0.054;0.037|.	T|T	0.53027|0.53027	-0.8496|-0.8496	10|5	0.59425|.	D|.	0.04|.	-15.1274|-15.1274	14.2344|14.2344	0.65916|0.65916	0.071:0.0:0.929:0.0|0.071:0.0:0.929:0.0	.|.	156;204|.	D6Q1S4;Q8N699|.	.;MYCT1_HUMAN|.	H|I	204|185	ENSP00000356214:R204H|.	ENSP00000356214:R204H|.	R|V	+|+	2|1	0|0	MYCT1|MYCT1	153084984|153084984	0.837000|0.837000	0.29446|0.29446	0.470000|0.470000	0.27216|0.27216	0.982000|0.982000	0.71751|0.71751	1.575000|1.575000	0.36493|0.36493	2.736000|2.736000	0.93811|0.93811	0.591000|0.591000	0.81541|0.81541	CGT|GTC		0.532	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		57	88	0	0	0	1	0	57	88					A	153043291	G	A	153043291	3	1	21	1	0	0	0	0	1	0	0	0	10031	1145	40	1	617	1	MYCT1	6	153043291	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	305143	153043291	18071776	270	1695										
EZR	7430	broad.mit.edu	37	chr6	159188477	159188477	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acacggggggtggtgggggcGggggtgctgtcatcaccagg					rs139613796	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:159188477delG	ENST00000367075.3	-	13	1580	c.1412delC	c.(1411-1413)ccgfs	p.P476fs	EZR_ENST00000392177.4_Frame_Shift_Del_p.P444fs|EZR_ENST00000337147.7_Frame_Shift_Del_p.P476fs|MIR3918_ENST00000581555.1_RNA	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	476	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)		TGGTGGGGGCGGGGGTGCTGT	0.597			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.(1411-1413)cgfs		ezrin							46	50	49					6																	159188477		2203	4300	6503	SO:0001589	frameshift_variant	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.chr6:159188477delG	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.1412delC	6.37:g.159188477delG	ENSP00000356042:p.Pro476fs		Somatic				EZR_ENST00000337147.7_Frame_Shift_Del_p.P476fs|EZR_ENST00000392177.4_Frame_Shift_Del_p.P444fs	p.P476fs	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)	13	1580	-		Breast(66;0.000776)|Ovarian(120;0.0303)	476			Interaction with SCYL3.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Frame_Shift_Del	DEL	ENST00000367075.3	37	c.1412delC	CCDS5258.1																																																																																				0.597	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		100	84						100	84	---	---	---	---	-	159188477	G	-	159188477	7	5	21	1	0	1	0	1	0	0	0	0	5337	1116	39	0	356	0	EZR	6	159188477	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	6145186	159188477	11926590	271	1696										
IGF2R	3482	broad.mit.edu	37	chr6	160526039	160526039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggaaagggaagtccagctctGcacagcagaagacagtgagc	14	9	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:160526039G>A	ENST00000356956.1	+	48	7547	c.7399G>A	c.(7399-7401)Gca>Aca	p.A2467T	IGF2R_ENST00000475584.1_Intron	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2467					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GTCCAGCTCTGCACAGCAGAA	0.597																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(7399-7401)Gca>Aca		insulin-like growth factor 2 receptor							86	71	76					6																	160526039		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160526039G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.7399G>A	6.37:g.160526039G>A	ENSP00000349437:p.Ala2467Thr		Somatic				IGF2R_ENST00000475584.1_Intron	p.A2467T	NM_000876.2	NP_000867.2	WXS	Illumina GAIIx	Phase_I	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	48	7547	+		Breast(66;0.000777)|Ovarian(120;0.0305)	2467					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.7399G>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608691	0.28623	.	.	ENSG00000197081	ENST00000356956	T	0.08984	3.03	5.07	5.07	0.68467	.	0.843513	0.10868	N	0.625293	T	0.05181	0.0138	L	0.51422	1.61	0.09310	N	1	B	0.32245	0.361	B	0.25140	0.058	T	0.19063	-1.0317	10	0.56958	D	0.05	-0.0506	18.8388	0.92174	0.0:0.0:1.0:0.0	.	2467	P11717	MPRI_HUMAN	T	2467	ENSP00000349437:A2467T	ENSP00000349437:A2467T	A	+	1	0	IGF2R	160446029	0.027000	0.19231	0.000000	0.03702	0.061000	0.15899	2.263000	0.43293	2.518000	0.84900	0.655000	0.94253	GCA		0.597	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		17	40	0	0	0	1	0	17	40					A	160526039	G	A	160526039	3	1	21	1	0	0	0	0	1	0	0	0	7585	1319	46	3	7589	3	IGF2R	6	160526039	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1337562	160526039	10589028	272	1697										
PSMB1	5689	broad.mit.edu	37	chr6	170844432	170844432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgaagacatctttcaccagcCgcatggctctgtccaaggac	9	13	3	2	rs150833808		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:170844432C>T	ENST00000262193.6	-	6	700	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	201					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)|Carfilzomib(DB08889)	TTTCACCAGCCGCATGGCTCT	0.512																																						ENST00000262193.6																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						c.(601-603)cGg>cAg		proteasome (prosome, macropain) subunit, beta type, 1	Bortezomib(DB00188)	C	GLN/ARG	0,4406		0,0,2203	114	93	100		602	1.2	0.9	6	dbSNP_134	100	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PSMB1	NM_002793.3	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	201/242	170844432	2,13004	2203	4300	6503	SO:0001583	missense	5689				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:170844432C>T	D00761	CCDS34577.1	6q27	2008-02-05			ENSG00000008018	ENSG00000008018		"Proteasome (prosome, macropain) subunits"	9537	protein-coding gene	gene with protein product		602017				2025653	Standard	NM_002793		Approved	PMSB1, HC5	uc011ehe.2	P20618	OTTHUMG00000016087	ENST00000262193.6:c.602G>A	6.37:g.170844432C>T	ENSP00000262193:p.Arg201Gln		Somatic				PSMB1_ENST00000462957.1_5'UTR	p.R201Q	NM_002793.3	NP_002784.1	WXS	Illumina GAIIx	Phase_I	P20618	PSB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	6	700	-		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)	201					B5BU76|Q9BWA8	Missense_Mutation	SNP	ENST00000262193.6	37	c.602G>A	CCDS34577.1	.	.	.	.	.	.	.	.	.	.	C	8.477	0.858974	0.17178	0.0	2.33E-4	ENSG00000008018	ENST00000262193	T	0.21543	2.0	5.48	1.17	0.20885	.	0.239529	0.43260	N	0.000583	T	0.01421	0.0046	N	0.01705	-0.755	0.32619	N	0.523555	B	0.02656	0.0	B	0.01281	0.0	T	0.47420	-0.9119	10	0.05351	T	0.99	-2.7203	6.789	0.23689	0.0:0.3554:0.0:0.6446	.	201	P20618	PSB1_HUMAN	Q	201	ENSP00000262193:R201Q	ENSP00000262193:R201Q	R	-	2	0	PSMB1	170686357	1.000000	0.71417	0.875000	0.34327	0.997000	0.91878	3.568000	0.53820	0.298000	0.22638	0.555000	0.69702	CGG		0.512	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043278.2	NM_002793		67	49	0	0	0	1	0	67	49					T	170844432	C	T	170844432	3	4	21	1	0	0	0	0	1	0	0	0	12686	652	23	1	127	1	PSMB1	6	170844432	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	10318393	170844432	270635	273	1698										
MAD1L1	8379	broad.mit.edu	37	chr7	1976422	1976422	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcgcaggagcccgcgcagtcGctcgcactccgcctgcagct	13	18	0	0	rs376905987		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:1976422G>A	ENST00000406869.1	-	17	2265	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	MAD1L1_ENST00000265854.7_Nonsense_Mutation_p.R570*|MAD1L1_ENST00000399654.2_Nonsense_Mutation_p.R570*|MAD1L1_ENST00000402746.1_Nonsense_Mutation_p.R478*			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	570					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)		CCGCGCAGTCGCTCGCACTCC	0.692																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(1708-1710)Cga>Tga		MAD1 mitotic arrest deficient-like 1 (yeast)		G	stop/ARG,stop/ARG,stop/ARG	0,4250		0,0,2125	16	21	20		1708,1708,1708	3.8	0.9	7		20	1,8393		0,1,4196	no	stop-gained,stop-gained,stop-gained	MAD1L1	NM_001013836.1,NM_001013837.1,NM_003550.2	,,	0,1,6321	AA,AG,GG		0.0119,0.0,0.0079	,,	570/719,570/719,570/719	1976422	1,12643	2125	4197	6322	SO:0001587	stop_gained	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.chr7:1976422G>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.1708C>T	7.37:g.1976422G>A	ENSP00000385334:p.Arg570*		Somatic				MAD1L1_ENST00000402746.1_Nonsense_Mutation_p.R478*|MAD1L1_ENST00000265854.7_Nonsense_Mutation_p.R570*|MAD1L1_ENST00000399654.2_Nonsense_Mutation_p.R570*	p.R570*			WXS	Illumina GAIIx	Phase_I	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	17	2265	-		Ovarian(82;0.0272)	570					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Nonsense_Mutation	SNP	ENST00000406869.1	37	c.1708C>T	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	G	44	10.547994	0.99425	0.0	1.19E-4	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000437877	.	.	.	4.77	3.82	0.43975	.	0.399810	0.26650	N	0.023214	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-29.0411	9.4963	0.38991	0.0:0.0:0.6583:0.3417	.	.	.	.	X	478;570;570;121;570;121;26	.	ENSP00000265854:R570X	R	-	1	2	MAD1L1	1942948	0.979000	0.34478	0.887000	0.34795	0.656000	0.38851	2.669000	0.46825	2.199000	0.70637	0.555000	0.69702	CGA		0.692	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		8	11	0	0	0	1	0	8	11					A	1976422	G	A	1976422	4	1	21	1	0	0	0	0	0	1	0	0	9156	1095	38	1	460	1	MAD1L1	7	1976422	Nonsense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08		1976422	157162241	274	1699										
TTYH3	80727	broad.mit.edu	37	chr7	2687615	2687615	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggctgggctacctgggcctgCtgctgctggacgtcatcatc	14	13	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:2687615C>T	ENST00000258796.7	+	5	854	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000403167.1_Silent_p.L46L|TTYH3_ENST00000407643.1_Intron	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	217					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CCTGGGCCTGCTGCTGCTGGA	0.706																																						ENST00000258796.7																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(649-651)Ctg>Ttg		tweety family member 3							100	87	92					7																	2687615		2203	4300	6503	SO:0001819	synonymous_variant	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2687615C>T		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"tweety homolog 3 (Drosophila)"				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.649C>T	7.37:g.2687615C>T			Somatic				TTYH3_ENST00000403167.1_Silent_p.L46L|TTYH3_ENST00000407643.1_Intron|TTYH3_ENST00000477439.1_3'UTR	p.L217L	NM_025250.2	NP_079526.1	WXS	Illumina GAIIx	Phase_I	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	5	854	+		Ovarian(82;0.0112)	217					A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Silent	SNP	ENST00000258796.7	37	c.649C>T	CCDS34588.1																																																																																				0.706	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		7	91	0	0	0	1	0	7	91					T	2687615	C	T	2687615	2	4	21	1	0	0	0	0	0	0	0	1	16756	796	28	3		3	TTYH3	7	2687615	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	711193	2687615	156451048	275	1700										
FSCN1	6624	broad.mit.edu	37	chr7	5645075	5645075	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctgaaggcctcggcggaaacCgtggaccccgcctcgctctg	13	16	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:5645075C>T	ENST00000382361.3	+	5	1566	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	FSCN1_ENST00000340250.6_Silent_p.T463T	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	484					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CGGCGGAAACCGTGGACCCCG	0.662																																						ENST00000382361.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(1450-1452)acC>acT		fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)							32	29	30					7																	5645075		2196	4298	6494	SO:0001819	synonymous_variant	6624				actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging	g.chr7:5645075C>T	U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"Fascins"	11148	protein-coding gene	gene with protein product	"Singed, drosophila, homolog-like", "actin bundling protein"	602689	"singed (Drosophila)-like (sea urchin fascin homolog like)", "fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1452C>T	7.37:g.5645075C>T			Somatic				FSCN1_ENST00000340250.6_Silent_p.T463T	p.T484T	NM_003088.3	NP_003079.1	WXS	Illumina GAIIx	Phase_I	Q16658	FSCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)	5	1566	+		Ovarian(82;0.0694)	484					A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Silent	SNP	ENST00000382361.3	37	c.1452C>T	CCDS5342.1																																																																																				0.662	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088		5	3	0	0	0	1	0	5	3					T	5645075	C	T	5645075	2	4	21	1	0	0	0	0	0	0	0	1	6075	639	23	1		1	FSCN1	7	5645075	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2957460	5645075	153493588	276	1701										
DGKB	1607	broad.mit.edu	37	chr7	14217687	14217687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcaggagcactgagccagccGccggccagcacttttcaggc	13	15	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:14217687G>A	ENST00000403951.2	-	24	2634	c.2215C>T	c.(2215-2217)Cgg>Tgg	p.R739W	DGKB_ENST00000399322.3_Missense_Mutation_p.R739W|DGKB_ENST00000444700.2_Missense_Mutation_p.R720W|DGKB_ENST00000402815.1_Missense_Mutation_p.R738W|DGKB_ENST00000406247.3_Missense_Mutation_p.R739W|DGKB_ENST00000258767.5_Missense_Mutation_p.R739W|DGKB_ENST00000407950.1_Missense_Mutation_p.R731W			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	739					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TGAGCCAGCCGCCGGCCAGCA	0.507																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2215-2217)Cgg>Tgg		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						57	66	63					7																	14217687		2105	4273	6378	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14217687G>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2215C>T	7.37:g.14217687G>A	ENSP00000385780:p.Arg739Trp		Somatic				DGKB_ENST00000258767.5_Missense_Mutation_p.R739W|DGKB_ENST00000444700.2_Missense_Mutation_p.R720W|DGKB_ENST00000399322.3_Missense_Mutation_p.R739W|DGKB_ENST00000407950.1_Missense_Mutation_p.R731W|DGKB_ENST00000406247.3_Missense_Mutation_p.R739W|DGKB_ENST00000402815.1_Missense_Mutation_p.R738W	p.R739W			WXS	Illumina GAIIx	Phase_I	Q9Y6T7	DGKB_HUMAN			24	2634	-			739					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.2215C>T	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637685	0.67130	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.8	3.94	0.45596	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.74658	0.3745	H	0.96175	3.78	0.43126	D	0.994855	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	0.83054	-0.0151	10	0.87932	D	0	.	14.4022	0.67056	0.0:0.0:0.6215:0.3785	.	738;720;739;739	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	W	739;739;739;738;731;720;739	ENSP00000385780:R739W;ENSP00000382260:R739W;ENSP00000258767:R739W;ENSP00000384909:R738W;ENSP00000385031:R731W;ENSP00000388451:R720W;ENSP00000386066:R739W	ENSP00000258767:R739W	R	-	1	2	DGKB	14184212	0.990000	0.36364	0.997000	0.53966	0.826000	0.46750	2.033000	0.41136	0.742000	0.32697	0.561000	0.74099	CGG		0.507	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		39	61	0	0	0	1	0	39	61					A	14217687	G	A	14217687	3	1	21	1	0	0	0	0	1	0	0	0	4468	1086	38	1	226	1	DGKB	7	14217687	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	8572612	14217687	144920976	277	1702										
NFE2L3	9603	broad.mit.edu	37	chr7	26192151	26192151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aagcggtggtggtcggccggCggcggcctcctgcacctcac	16	15	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:26192151C>T	ENST00000056233.3	+	1	292	c.33C>T	c.(31-33)ggC>ggT	p.G11G		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	11					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						GGTCGGCCGGCGGCGGCCTCC	0.756																																						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.(31-33)ggC>ggT		nuclear factor, erythroid 2-like 3							8	10	9					7																	26192151		1904	3860	5764	SO:0001819	synonymous_variant	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.chr7:26192151C>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.33C>T	7.37:g.26192151C>T			Somatic					p.G11G	NM_004289.6	NP_004280.5	WXS	Illumina GAIIx	Phase_I	Q9Y4A8	NF2L3_HUMAN			1	292	+			11					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	ENST00000056233.3	37	c.33C>T	CCDS5396.1																																																																																				0.756	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			13	17	0	0	0	1	0	13	17					T	26192151	C	T	26192151	2	4	21	1	0	0	0	0	0	0	0	1	10378	755	27	1		1	NFE2L3	7	26192151	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	11974464	26192151	132946512	278	1703										
PLEKHA8	84725	broad.mit.edu	37	chr7	30085829	30085829	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctctgtcttgctcccagttcAttctgtagataatacacgca	6	12	4	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:30085829A>G	ENST00000449726.1	+	3	511	c.161A>G	c.(160-162)cAt>cGt	p.H54R	PLEKHA8_ENST00000258679.7_Missense_Mutation_p.H54R|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.H54R|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.H54R|PLEKHA8_ENST00000483799.1_3'UTR	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	54	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						CTCCCAGTTCATTCTGTAGAT	0.512																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(160-162)cAt>cGt		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							95	93	93					7																	30085829		2203	4300	6503	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30085829A>G	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.161A>G	7.37:g.30085829A>G	ENSP00000397947:p.His54Arg		Somatic				PLEKHA8_ENST00000396257.2_Missense_Mutation_p.H54R|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.H54R|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.H54R|PLEKHA8_ENST00000483799.1_3'UTR	p.H54R	NM_001197027.1	NP_001183956.1	WXS	Illumina GAIIx	Phase_I	Q96JA3	PKHA8_HUMAN			3	511	+			54			PH.		B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.161A>G	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423982	0.83667	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.42	5.42	0.78866	.	0.175908	0.49305	D	0.000143	D	0.84817	0.5556	M	0.71920	2.185	0.80722	D	1	D;D;D	0.69078	0.997;0.992;0.994	D;P;D	0.81914	0.995;0.854;0.929	D	0.86528	0.1820	10	0.72032	D	0.01	.	14.2995	0.66336	1.0:0.0:0.0:0.0	.	54;54;54	Q96JA3-2;Q96JA3-3;B4DH00	.;.;.	R	54;54;54;54;80	ENSP00000258679:H54R;ENSP00000397947:H54R;ENSP00000379556:H54R;ENSP00000379558:H54R;ENSP00000407802:H80R	ENSP00000258679:H54R	H	+	2	0	PLEKHA8	30052354	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.307000	0.96226	2.052000	0.61016	0.533000	0.62120	CAT		0.512	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		49	80	0	0	0	1	0	49	80					G	30085829	A	G	30085829	3	3	21	1	0	0	0	0	1	0	0	0	12071	217	8	4	171	4	PLEKHA8	7	30085829	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	3893678	30085829	129052834	279	1704										
ANLN	54443	broad.mit.edu	37	chr7	36461586	36461588	+	In_Frame_Del	DEL	CTT	CTT	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aagaagctgaagcagaaagaCttcttctaattgcaagtaag							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:36461586_36461588delCTT	ENST00000265748.2	+	13	2505_2507	c.2284_2286delCTT	c.(2284-2286)cttdel	p.L764del	ANLN_ENST00000396068.2_In_Frame_Del_p.L727del	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	764	Localization to the cleavage furrow.				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)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGCAGAAAGACTTCTTCTAATTG	0.379																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(2284-2286)del		anillin, actin binding protein																																				SO:0001651	inframe_deletion	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36461586_36461588delCTT	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.2284_2286delCTT	7.37:g.36461589_36461591delCTT	ENSP00000265748:p.Leu764del		Somatic				ANLN_ENST00000396068.2_In_Frame_Del_p.L727del	p.L764del	NM_018685.2	NP_061155.2	WXS	Illumina GAIIx	Phase_I	Q9NQW6	ANLN_HUMAN			13	2505_2507	+			764			Localization to the cleavage furrow.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	In_Frame_Del	DEL	ENST00000265748.2	37	c.2284_2286delCTT	CCDS5447.1																																																																																				0.379	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		37	53						37	53	---	---	---	---	-	36461588	CTT	-	36461586	7	5	21	1	0	1	0	1	0	0	0	0	694	565	20	0	2334	0	ANLN	7	36461586	In_Frame_Del	DEL	CTT	TCGA-N7-A4Y0-01A-12D-A28R-08	6375757	36461586	122677077	280	1705										
C7orf25	79020	broad.mit.edu	37	chr7	42949408	42949408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atggcttttagggtgtctccCgtcccaaaaattgttaatga	9	8	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:42949408C>T	ENST00000350427.4	-	2	1367	c.1092G>A	c.(1090-1092)acG>acA	p.T364T	C7orf25_ENST00000438029.1_Silent_p.T364T|C7orf25_ENST00000431882.2_Silent_p.T422T|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Silent_p.T364T			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	364										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						GGGTGTCTCCCGTCCCAAAAA	0.433																																						ENST00000350427.4																			0				endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						c.(1090-1092)acG>acA		chromosome 7 open reading frame 25							85	82	83					7																	42949408		2203	4300	6503	SO:0001819	synonymous_variant	79020							g.chr7:42949408C>T	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.1092G>A	7.37:g.42949408C>T			Somatic				C7orf25_ENST00000447342.1_Silent_p.T364T|C7orf25_ENST00000431882.2_Silent_p.T422T|C7orf25_ENST00000438029.1_Silent_p.T364T|PSMA2_ENST00000442788.1_3'UTR	p.T364T			WXS	Illumina GAIIx	Phase_I	Q9BPX7	CG025_HUMAN			2	1367	-			364					A4D1V2|J3KR36|Q9H779	Silent	SNP	ENST00000350427.4	37	c.1092G>A	CCDS5466.1																																																																																				0.433	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054		41	37	0	0	0	1	0	41	37					T	42949408	C	T	42949408	2	4	21	1	0	0	0	0	0	0	0	1	2382	639	23	1		1	C7orf25	7	42949408	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	6487822	42949408	116189255	281	1706										
DBNL	28988	broad.mit.edu	37	chr7	44098476	44098476	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgaaggttttgcccactgcaGgggtcaacatgtgcttccct	11	11	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:44098476G>T	ENST00000448521.1	+	9	851				DBNL_ENST00000497184.1_Intron|DBNL_ENST00000494774.1_Intron|DBNL_ENST00000440166.1_Intron|DBNL_ENST00000468694.1_Splice_Site|DBNL_ENST00000456905.1_Intron|DBNL_ENST00000490734.2_Intron|DBNL_ENST00000452943.1_Intron	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like						activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						GCCCACTGCAGGGGTCAACAT	0.602																																					NSCLC(68;573 1327 18604 34760 37992)	ENST00000468694.1																			0				breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						c.e9-1		drebrin-like							81	73	76					7																	44098476		2203	4300	6503	SO:0001627	intron_variant	28988				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	g.chr7:44098476G>T	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.754-25G>T	7.37:g.44098476G>T			Somatic				DBNL_ENST00000497184.1_Intron|DBNL_ENST00000452943.1_Intron|DBNL_ENST00000456905.1_Intron|DBNL_ENST00000440166.1_Intron|DBNL_ENST00000490734.2_Intron|DBNL_ENST00000448521.1_Intron|DBNL_ENST00000494774.1_Intron		NM_001122956.1	NP_001116428.1	WXS	Illumina GAIIx	Phase_I	Q9UJU6	DBNL_HUMAN			9	783	+								A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Splice_Site	SNP	ENST00000448521.1	37		CCDS34623.1	.	.	.	.	.	.	.	.	.	.	G	0.731	-0.779789	0.02929	.	.	ENSG00000136279	ENST00000468694	.	.	.	5.26	-4.41	0.03590	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.506	0.02486	0.3671:0.2048:0.3072:0.1209	.	.	.	.	.	-1	.	.	.	+	.	.	DBNL	44065001	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.148000	0.10219	-0.469000	0.06911	-1.605000	0.00808	.		0.602	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		22	20	1	0	8.10497e-08	1	8.47206e-08	22	20					T	44098476	G	T	44098476	1	4	21	0	1	0	0	0	0	0	0	0	4257	1014	35	5		5	DBNL	7	44098476	Intron	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1149068	44098476	115040187	282	1707										
AEBP1	165	broad.mit.edu	37	chr7	44146234	44146234	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agtccttggaggggtcccccAggccgcccaagaaggggaag	16	12	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:44146234A>G	ENST00000223357.3	+	2	648	c.343A>G	c.(343-345)Agg>Ggg	p.R115G		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	115	Pro-rich.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GGGGTCCCCCAGGCCGCCCAA	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.(343-345)Agg>Ggg		AE binding protein 1							70	84	80					7																	44146234		2200	4299	6499	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.chr7:44146234A>G	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.343A>G	7.37:g.44146234A>G	ENSP00000223357:p.Arg115Gly		Somatic					p.R115G	NM_001129.3	NP_001120.3	WXS	Illumina GAIIx	Phase_I	Q8IUX7	AEBP1_HUMAN			2	648	+			115			Pro-rich.		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.343A>G	CCDS5476.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.838|9.838	1.190282|1.190282	0.21954|0.21954	.|.	.|.	ENSG00000106624|ENSG00000106624	ENST00000455443|ENST00000223357;ENST00000449162	.|D	.|0.95821	.|-3.82	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.722447	.|0.12449	.|N	.|0.467925	D|D	0.89839|0.89839	0.6831|0.6831	N|N	0.14661|0.14661	0.345|0.345	0.48571|0.48571	D|D	0.999676|0.999676	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	D|D	0.85517|0.85517	0.1201|0.1201	5|10	.|0.87932	.|D	.|0	-24.1513|-24.1513	9.0266|9.0266	0.36234|0.36234	0.9126:0.0:0.0874:0.0|0.9126:0.0:0.0874:0.0	.|.	.|115	.|Q8IUX7	.|AEBP1_HUMAN	R|G	72|115;31	.|ENSP00000223357:R115G	.|ENSP00000223357:R115G	Q|R	+|+	2|1	0|2	AEBP1|AEBP1	44112759|44112759	0.054000|0.054000	0.20591|0.20591	0.058000|0.058000	0.19502|0.19502	0.165000|0.165000	0.22458|0.22458	2.249000|2.249000	0.43169|0.43169	1.898000|1.898000	0.54952|0.54952	0.379000|0.379000	0.24179|0.24179	CAG|AGG		0.577	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		15	5	0	0	0	1	0	15	5					G	44146234	A	G	44146234	3	3	21	1	0	0	0	0	1	0	0	0	349	179	7	4	349	4	AEBP1	7	44146234	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	47758	44146234	114992429	283	1708										
IGFBP1	3484	broad.mit.edu	37	chr7	45930298	45930298	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcgaaggctctccatgtcacCaacatcaaaaaatggaaggt	8	10	3	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:45930298C>A	ENST00000275525.3	+	2	797	c.501C>A	c.(499-501)acC>acA	p.T167T	IGFBP1_ENST00000457280.1_Silent_p.T167T|IGFBP1_ENST00000468955.1_Silent_p.T167T	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	167					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						TCCATGTCACCAACATCAAAA	0.527											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000275525.3																			0				large_intestine(2)|lung(4)	6						c.(499-501)acC>acA		insulin-like growth factor binding protein 1							101	101	101					7																	45930298		2203	4300	6503	SO:0001819	synonymous_variant	3484					extracellular space	insulin-like growth factor binding	g.chr7:45930298C>A		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"placental protein 12", "amniotic fluid binding protein", "alpha-pregnancy-associated endometrial globulin", "growth hormone independent-binding protein", "binding protein-28", "binding protein-26", "binding protein-25", "IGF-binding protein 1"	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.501C>A	7.37:g.45930298C>A			Somatic	OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	935	IGFBP1_ENST00000468955.1_Silent_p.T167T|IGFBP1_ENST00000457280.1_Silent_p.T167T	p.T167T	NM_000596.2	NP_000587.1	WXS	Illumina GAIIx	Phase_I	P08833	IBP1_HUMAN			2	797	+			167					A4D2F4|D3DVL9|Q8IYP5	Silent	SNP	ENST00000275525.3	37	c.501C>A	CCDS5504.1																																																																																				0.527	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596		38	64	1	0	3.62531e-18	1	3.9594e-18	38	64					A	45930298	C	A	45930298	2	1	21	1	0	0	0	0	0	0	0	1	7587	581	21	5		5	IGFBP1	7	45930298	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1784064	45930298	113208365	284	1709										
ABCA13	154664	broad.mit.edu	37	chr7	48284175	48284175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atttatttttgccctcagatTacagcatctgtggaaattgc	7	8	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:48284175T>C	ENST00000435803.1	+	11	1289	c.1265T>C	c.(1264-1266)tTa>tCa	p.L422S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	422					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						GCCCTCAGATTACAGCATCTG	0.393																																						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.(1264-1266)tTa>tCa		ATP-binding cassette, sub-family A (ABC1), member 13							39	38	39					7																	48284175		1809	4069	5878	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48284175T>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.1265T>C	7.37:g.48284175T>C	ENSP00000411096:p.Leu422Ser		Somatic					p.L422S	NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	Q86UQ4	ABCAD_HUMAN			11	1289	+			422					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.1265T>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.021254	0.35701	.	.	ENSG00000179869	ENST00000435803	D	0.89196	-2.48	5.05	3.9	0.45041	.	0.551442	0.15261	N	0.271763	D	0.86159	0.5866	L	0.27053	0.805	0.49299	D	0.999776	D	0.58620	0.983	P	0.53401	0.725	D	0.83699	0.0181	10	0.72032	D	0.01	.	7.4969	0.27494	0.0:0.0988:0.0:0.9012	.	422	Q86UQ4	ABCAD_HUMAN	S	422	ENSP00000411096:L422S	ENSP00000411096:L422S	L	+	2	0	ABCA13	48254721	0.403000	0.25319	0.254000	0.24359	0.758000	0.43043	1.517000	0.35867	0.771000	0.33359	0.528000	0.53228	TTA		0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		12	23	0	0	0	1	0	12	23					C	48284175	T	C	48284175	3	2	21	1	0	0	0	0	1	0	0	0	31	1764	61	4	1136	4	ABCA13	7	48284175	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2353877	48284175	110854488	285	1710										
COBL	23242	broad.mit.edu	37	chr7	51258732	51258732	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cagggctcacacgcacaacaGctttttgtgtccgcaggtaa	10	12	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:51258732G>T	ENST00000265136.7	-	4	665	c.500C>A	c.(499-501)gCt>gAt	p.A167D	COBL_ENST00000395540.2_Missense_Mutation_p.A167D|COBL_ENST00000441453.1_Missense_Mutation_p.A167D|COBL_ENST00000395542.2_Missense_Mutation_p.A167D	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	167					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)					ACGCACAACAGCTTTTTGTGT	0.488																																					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.(499-501)gCt>gAt		cordon-bleu WH2 repeat protein							54	51	52					7																	51258732		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51258732G>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.500C>A	7.37:g.51258732G>T	ENSP00000265136:p.Ala167Asp		Somatic				COBL_ENST00000395540.2_Missense_Mutation_p.A167D|COBL_ENST00000265136.7_Missense_Mutation_p.A167D|COBL_ENST00000441453.1_Missense_Mutation_p.A167D	p.A167D			WXS	Illumina GAIIx	Phase_I	O75128	COBL_HUMAN			4	684	-	Glioma(55;0.08)		167					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.500C>A	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.090746|5.090746	0.94149|0.94149	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000395542;ENST00000395540;ENST00000441453;ENST00000449281|ENST00000452534	T;T;T;T;T|.	0.42513|.	0.97;1.96;0.97;0.97;0.97|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Cordon-bleu domain (1);|.	0.163605|.	0.29233|.	N|.	0.012751|.	T|T	0.76248|0.76248	0.3961|0.3961	M|M	0.71581|0.71581	2.175|2.175	0.51012|0.51012	D|D	0.999906|0.999906	D;D;D;D;D|.	0.89917|.	1.0;0.974;1.0;0.999;1.0|.	D;P;D;D;D|.	0.91635|.	0.992;0.865;0.999;0.992;0.989|.	T|T	0.74176|0.74176	-0.3750|-0.3750	10|5	0.59425|.	D|.	0.04|.	.|.	18.9893|18.9893	0.92784|0.92784	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	167;167;167;167;167|.	O75128-3;O75128-5;O75128-7;O75128;O75128-2|.	.;.;.;COBL_HUMAN;.|.	D|R	167;34;167;167;167;151|85	ENSP00000265136:A167D;ENSP00000401204:A34D;ENSP00000378912:A167D;ENSP00000378910:A167D;ENSP00000399500:A167D|.	ENSP00000265136:A167D|.	A|S	-|-	2|3	0|2	COBL|COBL	51226226|51226226	1.000000|1.000000	0.71417|0.71417	0.438000|0.438000	0.26821|0.26821	0.981000|0.981000	0.71138|0.71138	9.650000|9.650000	0.98490|0.98490	2.735000|2.735000	0.93741|0.93741	0.557000|0.557000	0.71058|0.71058	GCT|AGC		0.488	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		8	30	1	0	0.000442599	1	0.000448739	8	30					T	51258732	G	T	51258732	3	4	21	1	0	0	0	0	1	0	0	0	3655	971	34	5	3325	5	COBL	7	51258732	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2974557	51258732	107879931	286	1711										
TYW1B	441250	broad.mit.edu	37	chr7	72281094	72281094	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cataggcagaatttcccaggCcaaataccgcatctctcata	6	13	2	1	rs533168112		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:72281094C>T	ENST00000435769.2	-	0	517				TYW1B_ENST00000438904.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										ATTTCCCAGGCCAAATACCGC	0.428																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							222	184	196					7																	72281094		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72281094C>T	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72281094C>T			Somatic								WXS	Illumina GAIIx	Phase_I	Q6NUM6	TYW1B_HUMAN			0	336	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.428	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		75	120	0	0	0	1	0	75	120					T	72281094	C	T	72281094	1	4	21	0	1	0	0	0	0	0	0	0	16834	739	26	3		3	TYW1B	7	72281094	RNA	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	21022362	72281094	86857569	287	1712										
TYW1B	441250	broad.mit.edu	37	chr7	72297544	72297544	+	RNA	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tattaaaggtgaggagaggtCccatgtatccgcagaaggat	13	6	0	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:72297544C>A	ENST00000435769.2	-	0	147				TYW1B_ENST00000438904.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GAGGAGAGGTCCCATGTATCC	0.343																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							214	167	181					7																	72297544		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72297544C>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72297544C>A			Somatic								WXS	Illumina GAIIx	Phase_I	Q6NUM6	TYW1B_HUMAN			0	123	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.343	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		16	36	1	0	4.7546e-09	1	5.0178e-09	16	36					A	72297544	C	A	72297544	1	1	21	0	1	0	0	0	0	0	0	0	16834	855	30	2		2	TYW1B	7	72297544	RNA	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	16450	72297544	86841119	288	1713										
HIP1	3092	broad.mit.edu	37	chr7	75182877	75182877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cctgccatactgcttacaggCctcggtcagtgctggagata	11	12	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:75182877C>T	ENST00000336926.6	-	22	2196	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T	HIP1_ENST00000434438.2_Missense_Mutation_p.A724T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	724					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						TGCTTACAGGCCTCGGTCAGT	0.562			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.(2170-2172)Gcc>Acc		huntingtin interacting protein 1							72	60	64					7																	75182877		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75182877C>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2170G>A	7.37:g.75182877C>T	ENSP00000336747:p.Ala724Thr		Somatic				HIP1_ENST00000434438.2_Missense_Mutation_p.A724T	p.A724T	NM_005338.5	NP_005329.3	WXS	Illumina GAIIx	Phase_I	O00291	HIP1_HUMAN			22	2196	-			724					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.2170G>A	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	c	5.778	0.327907	0.10956	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14266	2.73;2.52	5.17	4.26	0.50523	.	0.389583	0.32671	N	0.005789	T	0.06325	0.0163	N	0.13235	0.315	0.27173	N	0.960863	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.38308	-0.9667	10	0.09084	T	0.74	-8.3628	6.4825	0.22071	0.0:0.772:0.0:0.228	.	724;724	E7ES17;O00291	.;HIP1_HUMAN	T	724	ENSP00000336747:A724T;ENSP00000410300:A724T	ENSP00000336747:A724T	A	-	1	0	HIP1	75020813	0.857000	0.29778	0.998000	0.56505	0.793000	0.44817	0.229000	0.17833	1.315000	0.45114	0.650000	0.86243	GCC		0.562	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		23	38	0	0	0	1	0	23	38					T	75182877	C	T	75182877	3	4	21	1	0	0	0	0	1	0	0	0	7123	739	26	3	983	3	HIP1	7	75182877	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2885333	75182877	83955786	289	1714										
CD36	948	broad.mit.edu	37	chr7	80276069	80276069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caagaaaaatgggctgtgacCggaactgtgggctcatcgct	13	9	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:80276069C>T	ENST00000435819.1	+	6	697	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	CD36_ENST00000534394.1_Intron|CD36_ENST00000432207.1_Missense_Mutation_p.R5W|CD36_ENST00000394788.3_Missense_Mutation_p.R5W|CD36_ENST00000441109.2_3'UTR|CD36_ENST00000538969.1_Missense_Mutation_p.R5W|CD36_ENST00000544133.1_Missense_Mutation_p.R5W|CD36_ENST00000433696.2_Missense_Mutation_p.R5W|CD36_ENST00000447544.2_Missense_Mutation_p.R5W|CD36_ENST00000309881.7_Missense_Mutation_p.R5W			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	5					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GGGCTGTGACCGGAACTGTGG	0.468																																						ENST00000435819.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						c.(13-15)Cgg>Tgg		CD36 molecule (thrombospondin receptor)							180	168	172					7																	80276069		2203	4300	6503	SO:0001583	missense	948				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding	g.chr7:80276069C>T	Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"CD molecules"	1663	protein-coding gene	gene with protein product		173510	"CD36 antigen (collagen type I receptor, thrombospondin receptor)"			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.13C>T	7.37:g.80276069C>T	ENSP00000399421:p.Arg5Trp		Somatic				CD36_ENST00000441109.2_3'UTR|CD36_ENST00000447544.2_Missense_Mutation_p.R5W|CD36_ENST00000544133.1_Missense_Mutation_p.R5W|CD36_ENST00000432207.1_Missense_Mutation_p.R5W|CD36_ENST00000394788.3_Missense_Mutation_p.R5W|CD36_ENST00000534394.1_Intron|CD36_ENST00000309881.7_Missense_Mutation_p.R5W|CD36_ENST00000538969.1_Missense_Mutation_p.R5W|CD36_ENST00000433696.2_Missense_Mutation_p.R5W	p.R5W			WXS	Illumina GAIIx	Phase_I	P16671	CD36_HUMAN			6	697	+			5					D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	ENST00000435819.1	37	c.13C>T	CCDS34673.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243968	0.39697	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000438020;ENST00000436384;ENST00000428497;ENST00000482059;ENST00000394788;ENST00000447544;ENST00000426978;ENST00000432207;ENST00000413265;ENST00000419819;ENST00000538969;ENST00000544133;ENST00000433696	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70631	-0.04;-0.04;0.19;-0.19;-0.19;-0.04;-0.04;0.18;-0.04;0.76;-0.03;-0.5;0.59;0.23	5.45	1.16	0.20824	.	0.255302	0.35262	N	0.003322	T	0.76097	0.3940	M	0.65975	2.015	0.09310	N	1	D	0.76494	0.999	P	0.56514	0.8	T	0.69480	-0.5134	9	.	.	.	-6.3684	12.6887	0.56962	0.5696:0.4304:0.0:0.0	.	5	P16671	CD36_HUMAN	W	5	ENSP00000399421:R5W;ENSP00000308165:R5W;ENSP00000410371:R5W;ENSP00000398760:R5W;ENSP00000409762:R5W;ENSP00000378268:R5W;ENSP00000415743:R5W;ENSP00000416388:R5W;ENSP00000411411:R5W;ENSP00000407690:R5W;ENSP00000392298:R5W;ENSP00000439543:R5W;ENSP00000441956:R5W;ENSP00000401863:R5W	.	R	+	1	2	CD36	80114005	0.000000	0.05858	0.063000	0.19743	0.237000	0.25408	-0.259000	0.08721	0.215000	0.20761	0.655000	0.94253	CGG		0.468	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339767.6	NM_001001547		50	53	0	0	0	1	0	50	53					T	80276069	C	T	80276069	3	4	21	1	0	0	0	0	1	0	0	0	3009	643	23	1	15	1	CD36	7	80276069	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	5093192	80276069	78862594	290	1715										
CROT	54677	broad.mit.edu	37	chr7	86990793	86990793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttgcgggtcctgcagctcatTttgaacactactggcctcca	9	13	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:86990793T>C	ENST00000331536.3	+	5	513	c.328T>C	c.(328-330)Ttt>Ctt	p.F110L	CROT_ENST00000419147.2_Missense_Mutation_p.F138L|CROT_ENST00000442291.1_Missense_Mutation_p.F110L	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	110					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TGCAGCTCATTTTGAACACTA	0.418																																						ENST00000331536.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(328-330)Ttt>Ctt		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						116	106	109					7																	86990793		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.chr7:86990793T>C		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.328T>C	7.37:g.86990793T>C	ENSP00000331981:p.Phe110Leu		Somatic				CROT_ENST00000419147.2_Missense_Mutation_p.F138L|CROT_ENST00000442291.1_Missense_Mutation_p.F110L	p.F110L	NM_021151.3	NP_066974.2	WXS	Illumina GAIIx	Phase_I	Q9UKG9	OCTC_HUMAN			5	513	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		110					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.328T>C	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	T	7.476	0.647729	0.14516	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.88586	-2.4;-2.4;-2.4	5.86	-0.692	0.11301	.	0.522401	0.22864	N	0.054703	T	0.68568	0.3015	N	0.05124	-0.11	0.21897	N	0.999484	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.55173	-0.8182	10	0.20046	T	0.44	-2.7819	2.7817	0.05362	0.2027:0.0874:0.1484:0.5615	.	138;110	E7EQF2;Q9UKG9	.;OCTC_HUMAN	L	138;110;110	ENSP00000413575:F138L;ENSP00000331981:F110L;ENSP00000411983:F110L	ENSP00000331981:F110L	F	+	1	0	CROT	86828729	0.437000	0.25593	0.009000	0.14445	0.992000	0.81027	0.171000	0.16685	-0.111000	0.12001	0.533000	0.62120	TTT		0.418	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		43	67	0	0	0	1	0	43	67					C	86990793	T	C	86990793	3	2	21	1	0	0	0	0	1	0	0	0	3896	1841	64	4	426	4	CROT	7	86990793	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	6714724	86990793	72147870	291	1716										
CALCR	799	broad.mit.edu	37	chr7	93106930	93106930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ataggacaatactccagccgGtgtgtcatcccagcacagcc	9	14	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:93106930G>A	ENST00000394441.1	-	4	571	c.256C>T	c.(256-258)Ccg>Tcg	p.P86S	CALCR_ENST00000359558.2_Missense_Mutation_p.P104S|CALCR_ENST00000426151.1_Missense_Mutation_p.P86S|CALCR_ENST00000421592.1_Missense_Mutation_p.P86S|CALCR_ENST00000360249.4_Missense_Mutation_p.P86S	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	104					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)	ACTCCAGCCGGTGTGTCATCC	0.418																																						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.(310-312)Ccg>Tcg		calcitonin receptor	Salmon Calcitonin(DB00017)						91	79	83					7																	93106930		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93106930G>A	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.256C>T	7.37:g.93106930G>A	ENSP00000377959:p.Pro86Ser		Somatic				CALCR_ENST00000421592.1_Missense_Mutation_p.P86S|CALCR_ENST00000426151.1_Missense_Mutation_p.P86S|CALCR_ENST00000394441.1_Missense_Mutation_p.P86S|CALCR_ENST00000360249.4_Missense_Mutation_p.P86S	p.P104S	NM_001164737.1	NP_001158209.1	WXS	Illumina GAIIx	Phase_I	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		6	609	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		86					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.310C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113971	0.77210	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	4.06	4.06	0.47325	.	.	.	.	.	T	0.64204	0.2577	L	0.39147	1.195	0.80722	D	1	P;P	0.42649	0.537;0.786	B;P	0.51297	0.236;0.665	T	0.60068	-0.7335	9	0.27785	T	0.31	.	16.1994	0.82060	0.0:0.0:1.0:0.0	.	104;86	F5H605;A4D1G6	.;.	S	104;86;86;86;86;86	ENSP00000352561:P104S;ENSP00000353385:P86S;ENSP00000399552:P86S;ENSP00000377959:P86S;ENSP00000389295:P86S	ENSP00000352561:P104S	P	-	1	0	CALCR	92944866	1.000000	0.71417	0.877000	0.34402	0.658000	0.38924	5.934000	0.70138	2.544000	0.85801	0.557000	0.71058	CCG		0.418	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		25	32	0	0	0	1	0	25	32					A	93106930	G	A	93106930	3	1	21	1	0	0	0	0	1	0	0	0	2581	1261	44	3	1260	3	CALCR	7	93106930	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	6116137	93106930	66031733	292	1717										
TECPR1	25851	broad.mit.edu	37	chr7	97846804	97846804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttggcccggacagagatatgGtcccagcctccctggaagga	13	12	0	1	rs201224382		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:97846804G>A	ENST00000447648.2	-	26	3695	c.3396C>T	c.(3394-3396)gaC>gaT	p.D1132D	TECPR1_ENST00000379795.3_Silent_p.D1134D			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1132					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						CAGAGATATGGTCCCAGCCTC	0.682																																						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.(3394-3396)gaC>gaT		tectonin beta-propeller repeat containing 1							15	19	17					7																	97846804		1925	4120	6045	SO:0001819	synonymous_variant	25851					integral to membrane	protein binding	g.chr7:97846804G>A		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.3396C>T	7.37:g.97846804G>A			Somatic				TECPR1_ENST00000379795.3_Silent_p.D1134D	p.D1132D			WXS	Illumina GAIIx	Phase_I	Q7Z6L1	TCPR1_HUMAN			26	3695	-			1132					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	c.3396C>T	CCDS47648.1																																																																																				0.682	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		11	11	0	0	0	1	0	11	11					A	97846804	G	A	97846804	2	1	21	1	0	0	0	0	0	0	0	1	15758	1252	44	3		3	TECPR1	7	97846804	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	4739874	97846804	61291859	293	1718										
ZCWPW1	55063	broad.mit.edu	37	chr7	99998670	99998670	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agcgccacggggaagtcctcGccatcactgttgctgtgctg	13	13	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:99998670G>A	ENST00000398027.2	-	18	2161	c.1914C>T	c.(1912-1914)ggC>ggT	p.G638G	ZCWPW1_ENST00000490721.1_Silent_p.G467G|ZCWPW1_ENST00000324725.6_Silent_p.G467G|ZCWPW1_ENST00000360951.4_3'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	638							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)					GGAAGTCCTCGCCATCACTGT	0.597																																						ENST00000398027.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(1912-1914)ggC>ggT		zinc finger, CW type with PWWP domain 1							46	51	49					7																	99998670		2084	4206	6290	SO:0001819	synonymous_variant	55063						zinc ion binding	g.chr7:99998670G>A	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1914C>T	7.37:g.99998670G>A			Somatic				ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000490721.1_Silent_p.G467G|ZCWPW1_ENST00000324725.6_Silent_p.G467G	p.G638G	NM_017984.4	NP_060454.3	WXS	Illumina GAIIx	Phase_I	Q9H0M4	ZCPW1_HUMAN			18	2161	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		638					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Silent	SNP	ENST00000398027.2	37	c.1914C>T	CCDS43623.1																																																																																				0.597	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		15	31	0	0	0	1	0	15	31					A	99998670	G	A	99998670	2	1	21	1	0	0	0	0	0	0	0	1	17612	1074	38	1		1	ZCWPW1	7	99998670	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2151866	99998670	59139993	294	1719										
GIGYF1	64599	broad.mit.edu	37	chr7	100283633	100283633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctcctctagcccttcggaagGttcctcctcctcctccaacc	5	20	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:100283633G>A	ENST00000275732.5	-	9	2227	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	340					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)					CCTTCGGAAGGTTCCTCCTCC	0.682																																						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.(1018-1020)Cct>Tct		GRB10 interacting GYF protein 1							36	34	35					7																	100283633		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100283633G>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.1018C>T	7.37:g.100283633G>A	ENSP00000275732:p.Pro340Ser		Somatic				GIGYF1_ENST00000471340.2_Intron	p.P340S	NM_022574.4	NP_072096.2	WXS	Illumina GAIIx	Phase_I	O75420	PERQ1_HUMAN			9	2227	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		340					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.1018C>T	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	7.409	0.634391	0.14322	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.82081	-1.57	5.07	3.07	0.35406	.	0.773593	0.12252	N	0.485507	T	0.59115	0.2170	N	0.03608	-0.345	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.46952	-0.9154	10	0.08837	T	0.75	-5.3194	7.2293	0.26033	0.0:0.1766:0.6146:0.2088	.	340	O75420	PERQ1_HUMAN	S	59;340	ENSP00000275732:P340S	ENSP00000275732:P340S	P	-	1	0	GIGYF1	100121569	0.958000	0.32768	0.293000	0.24932	0.231000	0.25187	0.000000	0.12993	1.326000	0.45319	0.655000	0.94253	CCT		0.682	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		33	42	0	0	0	1	0	33	42					A	100283633	G	A	100283633	3	1	21	1	0	0	0	0	1	0	0	0	6385	1261	44	3	2153	3	GIGYF1	7	100283633	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	284963	100283633	58855030	295	1720										
C7orf52	375607	broad.mit.edu	37	chr7	100816662	100816662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtgccaccttgacccccgggTgctgtctcttgaccagctgc	11	16	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:100816662T>C	ENST00000300303.2	-	3	690	c.452A>G	c.(451-453)cAc>cGc	p.H151R	NAT16_ENST00000455377.1_Missense_Mutation_p.H151R	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	151	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)										GACCCCCGGGTGCTGTCTCTT	0.692																																						ENST00000300303.2																			0											c.(451-453)cAc>cGc		N-acetyltransferase 16 (GCN5-related, putative)							30	32	31					7																	100816662		2201	4298	6499	SO:0001583	missense	375607						N-acetyltransferase activity	g.chr7:100816662T>C	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"chromosome 7 open reading frame 52"	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.452A>G	7.37:g.100816662T>C	ENSP00000300303:p.His151Arg		Somatic				NAT16_ENST00000455377.1_Missense_Mutation_p.H151R	p.H151R	NM_198571.2	NP_940973.2	WXS	Illumina GAIIx	Phase_I	Q8N8M0	CG052_HUMAN			3	690	-			151			N-acetyltransferase.		B3KRS2|Q8NDR1	Missense_Mutation	SNP	ENST00000300303.2	37	c.452A>G	CCDS5713.1	.	.	.	.	.	.	.	.	.	.	T	9.799	1.180021	0.21787	.	.	ENSG00000167011	ENST00000300303;ENST00000455377;ENST00000444446	T;T;T	0.43294	0.97;0.97;0.95	3.7	0.957	0.19613	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (1);	0.388897	0.23139	N	0.051490	T	0.24470	0.0593	N	0.24115	0.695	0.80722	D	1	B	0.29716	0.255	B	0.20577	0.03	T	0.05566	-1.0877	10	0.72032	D	0.01	.	8.5612	0.33511	0.0:0.0:0.3772:0.6228	.	151	Q8N8M0	CG052_HUMAN	R	151	ENSP00000300303:H151R;ENSP00000395125:H151R;ENSP00000391769:H151R	ENSP00000300303:H151R	H	-	2	0	C7orf52	100603382	0.990000	0.36364	0.007000	0.13788	0.973000	0.67179	1.159000	0.31749	0.077000	0.16863	0.379000	0.24179	CAC		0.692	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		19	27	0	0	0	1	0	19	27					C	100816662	T	C	100816662	3	2	21	1	0	0	0	0	1	0	0	0	2403	1696	59	4	665	4	C7orf52	7	100816662	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	533029	100816662	58322001	296	1721										
PIK3CG	5294	broad.mit.edu	37	chr7	106508511	106508511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcactgacgtcagcaacgtgCacgacgatgagctggagttc	12	11	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:106508511C>T	ENST00000359195.3	+	2	815	c.505C>T	c.(505-507)Cac>Tac	p.H169Y	PIK3CG_ENST00000496166.1_Missense_Mutation_p.H169Y|PIK3CG_ENST00000440650.2_Missense_Mutation_p.H169Y	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	169					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAGCAACGTGCACGACGATGA	0.677																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(505-507)Cac>Tac		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							31	35	34					7																	106508511		2203	4298	6501	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.chr7:106508511C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.505C>T	7.37:g.106508511C>T	ENSP00000352121:p.His169Tyr		Somatic				PIK3CG_ENST00000440650.2_Missense_Mutation_p.H169Y|PIK3CG_ENST00000496166.1_Missense_Mutation_p.H169Y	p.H169Y	NM_002649.2	NP_002640.2	WXS	Illumina GAIIx	Phase_I	P48736	PK3CG_HUMAN			2	815	+			169					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.505C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624358	0.66901	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70399	-0.48;-0.48;-0.48	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	M	0.64997	1.995	0.58432	D	0.999996	P	0.41102	0.738	B	0.32533	0.147	T	0.73607	-0.3929	10	0.59425	D	0.04	-31.2127	19.3967	0.94610	0.0:1.0:0.0:0.0	.	169	P48736	PK3CG_HUMAN	Y	169	ENSP00000392258:H169Y;ENSP00000419260:H169Y;ENSP00000352121:H169Y	ENSP00000352121:H169Y	H	+	1	0	PIK3CG	106295747	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.914000	0.69964	2.651000	0.90000	0.467000	0.42956	CAC		0.677	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			30	18	0	0	0	1	0	30	18					T	106508511	C	T	106508511	3	4	21	1	0	0	0	0	1	0	0	0	11925	710	25	3	507	3	PIK3CG	7	106508511	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	5691849	106508511	52630152	297	1722										
HBP1	26959	broad.mit.edu	37	chr7	106826902	106826902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cctggccttcaactgtctggCactgttttttgaaaggtaaa	9	9	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:106826902C>T	ENST00000222574.4	+	5	823	c.637C>T	c.(637-639)Cac>Tac	p.H213Y	HBP1_ENST00000468410.1_Missense_Mutation_p.H213Y|HBP1_ENST00000485846.1_Missense_Mutation_p.H213Y	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	213	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.				cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						AACTGTCTGGCACTGTTTTTT	0.398																																						ENST00000222574.4																			0				large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						c.(637-639)Cac>Tac		HMG-box transcription factor 1							172	162	165					7																	106826902		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106826902C>T	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.637C>T	7.37:g.106826902C>T	ENSP00000222574:p.His213Tyr		Somatic				HBP1_ENST00000468410.1_Missense_Mutation_p.H213Y|HBP1_ENST00000485846.1_Missense_Mutation_p.H213Y	p.H213Y	NM_012257.3	NP_036389.2	WXS	Illumina GAIIx	Phase_I	O60381	HBP1_HUMAN			5	823	+			213			AXH.		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.637C>T	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420572	0.83559	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99105	-5.43;-5.43;-5.43	5.87	4.99	0.66335	Ataxin, AXH domain (1);Ataxin-1/HBP1 module (AXH) (2);	0.040125	0.85682	N	0.000000	D	0.98877	0.9620	L	0.57536	1.79	0.80722	D	1	B;D;D	0.63880	0.0;0.993;0.987	B;D;P	0.64144	0.005;0.922;0.838	D	0.99771	1.1024	10	0.87932	D	0	-6.8505	15.1714	0.72875	0.0:0.9324:0.0:0.0676	.	223;213;213	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	Y	213;213;213;205	ENSP00000420500:H213Y;ENSP00000222574:H213Y;ENSP00000418738:H213Y	ENSP00000222574:H213Y	H	+	1	0	HBP1	106614138	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.770000	0.85390	1.494000	0.48533	-0.150000	0.13652	CAC		0.398	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		53	84	0	0	0	1	0	53	84					T	106826902	C	T	106826902	3	4	21	1	0	0	0	0	1	0	0	0	6994	710	25	3	651	3	HBP1	7	106826902	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	318391	106826902	52311761	298	1723										
DOCK4	9732	broad.mit.edu	37	chr7	111423966	111423966	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acagtagcaattaatgaaacGccactttcccgccatgtttc	6	12	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:111423966G>A	ENST00000437633.1	-	33	3700	c.3444C>T	c.(3442-3444)ggC>ggT	p.G1148G	DOCK4_ENST00000428084.1_Silent_p.G1157G|DOCK4_ENST00000494651.2_Silent_p.G31G	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1148					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTAATGAAACGCCACTTTCCC	0.408																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(3469-3471)ggC>ggT		dedicator of cytokinesis 4							96	89	91					7																	111423966		1844	4086	5930	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111423966G>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.3444C>T	7.37:g.111423966G>A			Somatic				DOCK4_ENST00000437633.1_Silent_p.G1148G|DOCK4_ENST00000494651.2_Silent_p.G31G	p.G1157G			WXS	Illumina GAIIx	Phase_I	Q8N1I0	DOCK4_HUMAN			34	3743	-		Acute lymphoblastic leukemia(1;0.0441)	1148			DHR-2.		O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.3471C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	0.315	-0.965616	0.02249	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	4.77	0.888	0.19206	.	.	.	.	.	T	0.53594	0.1806	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41270	-0.9518	4	.	.	.	.	6.5591	0.22476	0.3418:0.1203:0.5379:0.0	.	.	.	.	V	609;1181	.	.	A	-	2	0	DOCK4	111211202	0.140000	0.22579	0.998000	0.56505	0.152000	0.21847	-0.630000	0.05502	0.049000	0.15920	-0.140000	0.14226	GCG		0.408	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		6	7	0	0	0	1	0	6	7					A	111423966	G	A	111423966	2	1	21	1	0	0	0	0	0	0	0	1	4691	1074	38	1		1	DOCK4	7	111423966	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	4597064	111423966	47714697	299	1724										
KCND2	3751	broad.mit.edu	37	chr7	120386010	120386010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aatgccaatgtatcaggaagCcatcaaggtagtatacaaga	9	7	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:120386010C>T	ENST00000331113.4	+	5	2609	c.1644C>T	c.(1642-1644)agC>agT	p.S548S	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	548					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TATCAGGAAGCCATCAAGGTA	0.443																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(1642-1644)agC>agT		potassium voltage-gated channel, Shal-related subfamily, member 2							133	109	117					7																	120386010		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120386010C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1644C>T	7.37:g.120386010C>T			Somatic					p.S548S	NM_012281.2	NP_036413.1	WXS	Illumina GAIIx	Phase_I	Q9NZV8	KCND2_HUMAN			5	2609	+	all_neural(327;0.117)		548					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.1644C>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	9.937	1.216453	0.22373	.	.	ENSG00000184408	ENST00000425288	.	.	.	6.06	4.09	0.47781	.	.	.	.	.	T	0.69717	0.3142	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67158	-0.5741	4	.	.	.	.	14.2759	0.66179	0.0:0.9124:0.0:0.0876	.	.	.	.	V	134	.	.	A	+	2	0	KCND2	120173246	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.114000	0.41911	0.698000	0.31739	0.655000	0.94253	GCC		0.443	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		23	52	0	0	0	1	0	23	52					T	120386010	C	T	120386010	2	4	21	1	0	0	0	0	0	0	0	1	8028	738	26	3		3	KCND2	7	120386010	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	8962044	120386010	38752653	300	1725										
ZNF800	168850	broad.mit.edu	37	chr7	127014143	127014143	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggaagggggtgaagattctAcagaatctgctggttcaact	13	6	3	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:127014143A>G	ENST00000393313.1	-	5	1838	c.1247T>C	c.(1246-1248)gTa>gCa	p.V416A	ZNF800_ENST00000393312.1_Missense_Mutation_p.V416A|ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.V416A			Q2TB10	ZN800_HUMAN	zinc finger protein 800	416					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TGAAGATTCTACAGAATCTGC	0.358																																						ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1246-1248)gTa>gCa		zinc finger protein 800							86	92	90					7																	127014143		2203	4297	6500	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127014143A>G	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1247T>C	7.37:g.127014143A>G	ENSP00000376989:p.Val416Ala		Somatic				ZNF800_ENST00000393312.1_Missense_Mutation_p.V416A|ZNF800_ENST00000265827.3_Missense_Mutation_p.V416A	p.V416A			WXS	Illumina GAIIx	Phase_I	Q2TB10	ZN800_HUMAN			5	1838	-			416					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1247T>C	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	A	3.859	-0.030218	0.07543	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.14391	2.51;2.51;2.51	5.83	5.83	0.93111	.	0.323270	0.30519	N	0.009459	T	0.08313	0.0207	N	0.08118	0	0.27036	N	0.964137	B;B	0.20368	0.044;0.044	B;B	0.22880	0.042;0.042	T	0.32214	-0.9915	8	.	.	.	0.1755	15.3705	0.74560	1.0:0.0:0.0:0.0	.	319;416	B7Z4V7;Q2TB10	.;ZN800_HUMAN	A	416	ENSP00000376989:V416A;ENSP00000265827:V416A;ENSP00000376988:V416A	.	V	-	2	0	ZNF800	126801379	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.620000	0.54203	2.222000	0.72286	0.477000	0.44152	GTA		0.358	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		28	41	0	0	0	1	0	28	41					G	127014143	A	G	127014143	3	3	21	1	0	0	0	0	1	0	0	0	18184	391	14	4	755	4	ZNF800	7	127014143	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	6628133	127014143	32124520	301	1726										
IMPDH1	3614	broad.mit.edu	37	chr7	128037026	128037026	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggtgggggtacttctgtttGatgtaatgcaccatggcgat	14	6	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:128037026G>A	ENST00000480861.1	-	8	932	c.855C>T	c.(853-855)atC>atT	p.I285I	IMPDH1_ENST00000496200.1_Silent_p.I265I|IMPDH1_ENST00000338791.6_Silent_p.I375I|IMPDH1_ENST00000343214.4_Silent_p.I265I|IMPDH1_ENST00000378717.4_Silent_p.I306I|IMPDH1_ENST00000348127.6_Silent_p.I339I|IMPDH1_ENST00000470772.1_Silent_p.I289I|IMPDH1_ENST00000354269.5_Silent_p.I365I|IMPDH1_ENST00000419067.2_Silent_p.I342I	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						ACTTCTGTTTGATGTAATGCA	0.562																																						ENST00000338791.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						c.(1123-1125)atC>atT		IMP (inosine 5'-monophosphate) dehydrogenase 1	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)						95	83	87					7																	128037026		2203	4300	6503	SO:0001819	synonymous_variant	3614				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding	g.chr7:128037026G>A		CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"retinitis pigmentosa 10 (autosomal dominant)", "IMP (inosine monophosphate) dehydrogenase 1"	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.855C>T	7.37:g.128037026G>A			Somatic				IMPDH1_ENST00000378717.4_Silent_p.I306I|IMPDH1_ENST00000480861.1_Silent_p.I285I|IMPDH1_ENST00000470772.1_Silent_p.I289I|IMPDH1_ENST00000348127.6_Silent_p.I339I|IMPDH1_ENST00000419067.2_Silent_p.I342I|IMPDH1_ENST00000343214.4_Silent_p.I265I|IMPDH1_ENST00000496200.1_Silent_p.I265I|IMPDH1_ENST00000354269.5_Silent_p.I365I	p.I375I	NM_000883.3	NP_000874.2	WXS	Illumina GAIIx	Phase_I	P20839	IMDH1_HUMAN			11	1475	-			290						Silent	SNP	ENST00000480861.1	37	c.1125C>T	CCDS55161.1																																																																																				0.562	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349462.1	NM_000883		35	57	0	0	0	1	0	35	57					A	128037026	G	A	128037026	2	1	21	1	0	0	0	0	0	0	0	1	7735	1280	45	3		3	IMPDH1	7	128037026	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1022883	128037026	31101637	302	1727										
SMO	6608	broad.mit.edu	37	chr7	128843292	128843292	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgtgccgtatacatgcccaaGtgtgagaatgaccgggtgga	14	8	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:128843292G>T	ENST00000249373.3	+	2	679	c.399G>T	c.(397-399)aaG>aaT	p.K133N		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	133	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	ACATGCCCAAGTGTGAGAATG	0.672			Mis		skin basal cell																																	ENST00000249373.3				Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell		0				biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(397-399)aaG>aaT		smoothened, frizzled family receptor							30	24	26					7																	128843292		2197	4295	6492	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128843292G>T	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.399G>T	7.37:g.128843292G>T	ENSP00000249373:p.Lys133Asn		Somatic					p.K133N	NM_005631.4	NP_005622.1	WXS	Illumina GAIIx	Phase_I	Q99835	SMO_HUMAN			2	679	+			133			FZ.		A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.399G>T	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.892031	0.72524	.	.	ENSG00000128602	ENST00000249373	T	0.76186	-1.0	5.5	2.69	0.31865	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.84534	0.5493	M	0.84585	2.705	0.58432	D	0.999995	D	0.76494	0.999	D	0.69824	0.966	D	0.85257	0.1048	10	0.62326	D	0.03	.	9.3952	0.38397	0.2272:0.0:0.7728:0.0	.	133	Q99835	SMO_HUMAN	N	133	ENSP00000249373:K133N	ENSP00000249373:K133N	K	+	3	2	SMO	128630528	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.595000	0.46197	1.322000	0.45245	0.563000	0.77884	AAG		0.672	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		3	3	1	0	0.115264	1	0.11566	3	3					T	128843292	G	T	128843292	3	4	21	1	0	0	0	0	1	0	0	0	14815	1020	36	5	405	5	SMO	7	128843292	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	806266	128843292	30295371	303	1728										
AKR1B15	441282	broad.mit.edu	37	chr7	134252969	134252969	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	attgatgcagaatatcgccaCattgactgtgcctatttcta	7	9	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:134252969C>T	ENST00000457545.2	+	4	470	c.210C>T	c.(208-210)caC>caT	p.H70H	AKR1B15_ENST00000423958.1_Silent_p.H42H	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	70							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AATATCGCCACATTGACTGTG	0.453																																						ENST00000457545.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						c.(208-210)caC>caT		aldo-keto reductase family 1, member B15							108	111	110					7																	134252969		2203	4300	6503	SO:0001819	synonymous_variant	441282						oxidoreductase activity	g.chr7:134252969C>T		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.210C>T	7.37:g.134252969C>T			Somatic				AKR1B15_ENST00000423958.1_Silent_p.H42H	p.H70H	NM_001080538.2	NP_001074007.2	WXS	Illumina GAIIx	Phase_I	C9JRZ8	AK1BF_HUMAN			4	470	+			70					C9J3V2	Silent	SNP	ENST00000457545.2	37	c.210C>T	CCDS47715.2																																																																																				0.453	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2			40	52	0	0	0	1	0	40	52					T	134252969	C	T	134252969	2	4	21	1	0	0	0	0	0	0	0	1	468	477	17	3		3	AKR1B15	7	134252969	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	5409677	134252969	24885694	304	1729										
DGKI	9162	broad.mit.edu	37	chr7	137339501	137339501	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcttggtgaccttgagcctcCttctcgaaatgttggtttac	9	10	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:137339501C>A	ENST00000288490.5	-	5	715	c.715G>T	c.(715-717)Gga>Tga	p.G239*	DGKI_ENST00000453654.2_De_novo_Start_OutOfFrame|DGKI_ENST00000446122.1_Nonsense_Mutation_p.G239*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.G239*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	239					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						CTTGAGCCTCCTTCTCGAAAT	0.338																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84								diacylglycerol kinase, iota							114	103	106					7																	137339501		2203	4300	6503	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.chr7:137339501C>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.715G>T	7.37:g.137339501C>A	ENSP00000288490:p.Gly239*		Somatic				DGKI_ENST00000424189.2_Nonsense_Mutation_p.G239*|DGKI_ENST00000288490.5_Nonsense_Mutation_p.G239*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.G239*				WXS	Illumina GAIIx	Phase_I	O75912	DGKI_HUMAN			0	354	-								A4D1Q9|Q9NZ49	Translation_Start_Site	SNP	ENST00000288490.5	37		CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	40	7.986694	0.98596	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	17.0943	0.86630	0.0:1.0:0.0:0.0	.	.	.	.	X	187;239;239;239	.	ENSP00000288490:G239X	G	-	1	0	DGKI	136990041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.446000	0.44908	2.771000	0.95319	0.561000	0.74099	GGA		0.338	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		21	36	1	0	1.66031e-10	1	1.76069e-10	21	36					A	137339501	C	A	137339501	4	1	21	1	0	0	0	0	0	1	0	0	4473	690	24	5	2602	5	DGKI	7	137339501	Nonsense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3086532	137339501	21799162	305	1730										
KIAA1549	57670	broad.mit.edu	37	chr7	138522791	138522791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggggtaacccagcccagggcCctgcagtccccggtggggga	17	14	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:138522791C>T	ENST00000422774.1	-	20	5761	c.5713G>A	c.(5713-5715)Ggc>Agc	p.G1905S	TMEM213_ENST00000413208.1_3'UTR|KIAA1549_ENST00000440172.1_Missense_Mutation_p.G1889S|KIAA1549_ENST00000242365.4_Missense_Mutation_p.G1839S			Q9HCM3	K1549_HUMAN	KIAA1549	1905						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGCCCAGGGCCCTGCAGTCCC	0.622			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)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(5665-5667)Ggc>Agc		KIAA1549							29	30	30					7																	138522791		1900	4102	6002	SO:0001583	missense	57670					integral to membrane		g.chr7:138522791C>T		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.5713G>A	7.37:g.138522791C>T	ENSP00000416040:p.Gly1905Ser		Somatic				KIAA1549_ENST00000422774.1_Missense_Mutation_p.G1905S|TMEM213_ENST00000413208.1_3'UTR|KIAA1549_ENST00000242365.4_Missense_Mutation_p.G1839S	p.G1889S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	WXS	Illumina GAIIx	Phase_I	Q9HCM3	K1549_HUMAN			20	5713	-			1905					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.5665G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260224	0.80246	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.24151	1.87;1.88;1.88	5.4	5.4	0.78164	.	0.453724	0.20574	N	0.089680	T	0.30541	0.0768	N	0.14661	0.345	0.36930	D	0.891858	D;D;D;D	0.65815	0.991;0.99;0.995;0.99	P;P;D;P	0.62955	0.813;0.864;0.909;0.864	T	0.16778	-1.0391	10	0.19147	T	0.46	.	16.3363	0.83062	0.0:1.0:0.0:0.0	.	1905;689;1889;673	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	S	1889;1839;1905	ENSP00000406661:G1889S;ENSP00000242365:G1839S;ENSP00000416040:G1905S	ENSP00000242365:G1839S	G	-	1	0	KIAA1549	138173331	0.989000	0.36119	0.990000	0.47175	0.975000	0.68041	1.641000	0.37197	2.529000	0.85273	0.655000	0.94253	GGC		0.622	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			13	11	0	0	0	1	0	13	11					T	138522791	C	T	138522791	3	4	21	1	0	0	0	0	1	0	0	0	8253	623	22	3	143	3	KIAA1549	7	138522791	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1183290	138522791	20615872	306	1731										
BRAF	673	broad.mit.edu	37	chr7	140482927	140482927	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtgagccaggtaatgaggcaGggggggtagcagacaaacct							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:140482927delG	ENST00000288602.6	-	10	1268	c.1208delC	c.(1207-1209)cctfs	p.P403fs		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	403					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)	TAATGAGGCAGGGGGGGTAGC	0.428		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.(1207-1209)ctfs		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						58	56	57					7																	140482927		2203	4300	6503	SO:0001589	frameshift_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.chr7:140482927delG	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.1208delC	7.37:g.140482927delG	ENSP00000288602:p.Pro403fs		Somatic					p.P403fs	NM_004333.4	NP_004324.2	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			10	1268	-	Melanoma(164;0.00956)		403					A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Frame_Shift_Del	DEL	ENST00000288602.6	37	c.1208delC	CCDS5863.1																																																																																				0.428	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		15	33						15	33	---	---	---	---	-	140482927	G	-	140482927	7	5	21	1	0	1	0	1	0	0	0	0	1498	1000	35	0	1128	0	BRAF	7	140482927	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1960136	140482927	18655736	307	1732										
OR6V1	346517	broad.mit.edu	37	chr7	142749858	142749858	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgagccgggctatgtgtgtcCagctggctggggctgcctgg	18	10	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:142749858C>T	ENST00000418316.1	+	1	442	c.421C>T	c.(421-423)Cag>Tag	p.Q141*		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TATGTGTGTCCAGCTGGCTGG	0.587																																						ENST00000418316.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(421-423)Cag>Tag		olfactory receptor, family 6, subfamily V, member 1							71	78	76					7																	142749858		2139	4265	6404	SO:0001587	stop_gained	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142749858C>T		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.421C>T	7.37:g.142749858C>T	ENSP00000396085:p.Gln141*		Somatic					p.Q141*	NM_001001667.1	NP_001001667.1	WXS	Illumina GAIIx	Phase_I	Q8N148	OR6V1_HUMAN			1	442	+	Melanoma(164;0.059)		141					A4D2I0|B9EH48|Q6IF70	Nonsense_Mutation	SNP	ENST00000418316.1	37	c.421C>T	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681919	0.68042	.	.	ENSG00000225781	ENST00000418316	.	.	.	4.26	2.34	0.29019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	3.8277	0.08861	0.1985:0.6013:0.0:0.2002	.	.	.	.	X	141	.	ENSP00000396085:Q141X	Q	+	1	0	OR6V1	142459980	0.000000	0.05858	0.053000	0.19242	0.954000	0.61252	-1.366000	0.02585	0.965000	0.38133	0.655000	0.94253	CAG		0.587	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			6	90	0	0	0	1	0	6	90					T	142749858	C	T	142749858	4	4	21	1	0	0	0	0	0	1	0	0	11220	595	21	3	423	3	OR6V1	7	142749858	Nonsense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2266931	142749858	16388805	308	1733										
ZYX	7791	broad.mit.edu	37	chr7	143087016	143087016	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gagcctggccgagatgagacTgtgcgagtggtcgccctgga	17	10	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:143087016T>C	ENST00000322764.5	+	9	1905	c.1560T>C	c.(1558-1560)acT>acC	p.T520T	ZYX_ENST00000449423.2_Silent_p.T433T|EPHA1_ENST00000458129.1_5'Flank|ZYX_ENST00000392910.2_Silent_p.T363T	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	520	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GAGATGAGACTGTGCGAGTGG	0.602																																						ENST00000322764.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17						c.(1558-1560)acT>acC		zyxin							127	105	113					7																	143087016		2203	4300	6503	SO:0001819	synonymous_variant	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143087016T>C	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.1560T>C	7.37:g.143087016T>C			Somatic				ZYX_ENST00000392910.2_Silent_p.T363T|ZYX_ENST00000449423.2_Silent_p.T433T	p.T520T	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	WXS	Illumina GAIIx	Phase_I	Q15942	ZYX_HUMAN			9	1905	+	Melanoma(164;0.205)		520			LIM zinc-binding 3.		A4D2G6|Q6I9S4	Silent	SNP	ENST00000322764.5	37	c.1560T>C	CCDS5883.1																																																																																				0.602	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		37	42	0	0	0	1	0	37	42					C	143087016	T	C	143087016	2	2	21	1	0	0	0	0	0	0	0	1	18269	1567	55	4		4	ZYX	7	143087016	Silent	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	337158	143087016	16051647	309	1734										
OR2A14	135941	broad.mit.edu	37	chr7	143826815	143826815	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcatctttgcagcctgcgtgTtcatcctggtggggccactc	11	13	3	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:143826815T>A	ENST00000408899.2	+	1	665	c.610T>A	c.(610-612)Ttc>Atc	p.F204I		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	204						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)					AGCCTGCGTGTTCATCCTGGT	0.567																																						ENST00000408899.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(610-612)Ttc>Atc		olfactory receptor, family 2, subfamily A, member 14							152	157	155					7																	143826815		2047	4197	6244	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826815T>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.610T>A	7.37:g.143826815T>A	ENSP00000386137:p.Phe204Ile		Somatic					p.F204I	NM_001001659.1	NP_001001659.1	WXS	Illumina GAIIx	Phase_I	Q96R47	O2A14_HUMAN			1	665	+	Melanoma(164;0.0783)		204					Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.610T>A	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	T	2.424	-0.332449	0.05314	.	.	ENSG00000221938	ENST00000408899	T	0.37411	1.2	4.18	2.93	0.34026	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33419	U	0.004938	T	0.22513	0.0543	N	0.21097	0.63	0.09310	N	1	B	0.28128	0.201	B	0.34931	0.192	T	0.18967	-1.0320	10	0.12766	T	0.61	-8.5051	8.2456	0.31686	0.1782:0.0:0.0:0.8218	.	204	Q96R47	O2A14_HUMAN	I	204	ENSP00000386137:F204I	ENSP00000386137:F204I	F	+	1	0	OR2A14	143457748	0.000000	0.05858	0.013000	0.15412	0.005000	0.04900	-1.777000	0.01780	1.868000	0.54150	0.459000	0.35465	TTC		0.567	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			121	139	0	0	0	1	0	121	139					A	143826815	T	A	143826815	3	1	21	1	0	0	0	0	1	0	0	0	10985	1725	60	4	612	4	OR2A14	7	143826815	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	739799	143826815	15311848	310	1735										
CNTNAP2	26047	broad.mit.edu	37	chr7	147914501	147914501	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaccagcagaactcccacccGgacctggcacaggaggagat	12	14	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:147914501G>A	ENST00000361727.3	+	19	3648	c.3132G>A	c.(3130-3132)ccG>ccA	p.P1044P	CNTNAP2_ENST00000538075.1_Silent_p.P103P	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1044					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)	p.P1044P(1)		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)			ACTCCCACCCGGACCTGGCAC	0.562										HNSCC(39;0.1)																												ENST00000361727.3																			1	Substitution - coding silent(1)	p.P1044P(1)	endometrium(1)	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.(3130-3132)ccG>ccA		contactin associated protein-like 2							116	111	113					7																	147914501		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147914501G>A	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.3132G>A	7.37:g.147914501G>A		HNSCC(39;0.1)	Somatic				CNTNAP2_ENST00000538075.1_Silent_p.P103P	p.P1044P	NM_014141.5	NP_054860.1	WXS	Illumina GAIIx	Phase_I	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		19	3648	+	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)	1044					D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.3132G>A	CCDS5889.1																																																																																				0.562	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			51	66	0	0	0	1	0	51	66					A	147914501	G	A	147914501	2	1	21	1	0	0	0	0	0	0	0	1	3649	1103	39	1		1	CNTNAP2	7	147914501	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	4087686	147914501	11224162	311	1736										
TMEM176B	28959	broad.mit.edu	37	chr7	150490215	150490215	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gctctacactcctccttctgCcattggttctcttgacttcg	6	15	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:150490215C>T	ENST00000447204.2	-	5	933	c.561G>A	c.(559-561)tgG>tgA	p.W187*	TMEM176B_ENST00000450753.2_Nonsense_Mutation_p.W150*|TMEM176B_ENST00000434545.1_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000429904.2_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000492607.1_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000326442.5_Nonsense_Mutation_p.W187*	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	187					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCTTCTGCCATTGGTTCT	0.527																																						ENST00000447204.2																			0				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19						c.(559-561)tgG>tgA		transmembrane protein 176B							143	118	126					7																	150490215		2203	4300	6503	SO:0001587	stop_gained	28959				cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		g.chr7:150490215C>T	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.561G>A	7.37:g.150490215C>T	ENSP00000410269:p.Trp187*		Somatic				TMEM176B_ENST00000492607.1_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000434545.1_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000429904.2_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000326442.5_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000450753.2_Nonsense_Mutation_p.W150*	p.W187*	NM_014020.3	NP_054739.3	WXS	Illumina GAIIx	Phase_I	Q3YBM2	T176B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	933	-			187					B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Nonsense_Mutation	SNP	ENST00000447204.2	37	c.561G>A	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933859	0.73442	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	.	.	.	3.7	3.7	0.42460	.	0.934134	0.09032	N	0.858642	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-4.216	11.6847	0.51479	0.0:1.0:0.0:0.0	.	.	.	.	X	187;187;187;187;187;150;187	.	ENSP00000318409:W187X	W	-	3	0	TMEM176B	150121148	0.608000	0.26966	0.138000	0.22173	0.009000	0.06853	2.464000	0.45067	2.023000	0.59567	0.448000	0.29417	TGG		0.527	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		27	58	0	0	0	1	0	27	58					T	150490215	C	T	150490215	4	4	21	1	0	0	0	0	0	1	0	0	16108	740	26	3	263	3	TMEM176B	7	150490215	Nonsense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2575714	150490215	8648448	312	1737										
CHPF2	54480	broad.mit.edu	37	chr7	150935414	150935415	+	Frame_Shift_Ins	INS	-	-	G													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcctggtgctgacccctcccINSggggggctcctatagggggg					rs559445545|rs542748933		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:150935414_150935415insG	ENST00000035307.2	+	4	3479_3480	c.1966_1967insG	c.(1966-1968)cggfs	p.R656fs	CHPF2_ENST00000495645.1_Frame_Shift_Ins_p.R648fs|MIR671_ENST00000390183.1_RNA|RP4-548D19.3_ENST00000607902.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	656	Gly/Pro-rich.				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGACCCCTCCCGGGGGGCTCCT	0.678																																						ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(1966-1968)gggfs		chondroitin polymerizing factor 2																																				SO:0001589	frameshift_variant	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150935414_150935415insG	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1972dupG	7.37:g.150935420_150935420dupG	ENSP00000035307:p.Arg656fs		Somatic				CHPF2_ENST00000495645.1_Frame_Shift_Ins_p.G648fs	p.G656fs	NM_019015.1	NP_061888.1	WXS	Illumina GAIIx	Phase_I	Q9P2E5	CHPF2_HUMAN			4	3479_3480	+			656			Gly/Pro-rich.		B2DBD8|Q6P2I4|Q6UXD2	Frame_Shift_Ins	INS	ENST00000035307.2	37	c.1966_1967insG	CCDS34779.1																																																																																				0.678	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		16	20						16	20	---	---	---	---	G	150935415	-	G	150935414	7	5	21	1	0	1	1	0	0	0	0	0	3371	643	23	0	1980	0	CHPF2	7	150935414	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	445199	150935414	8203249	313	1738										
NUB1	51667	broad.mit.edu	37	chr7	151046250	151046250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acgttgcaaggcaattgagcGtggaacaggaaatgacaatt	12	6	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:151046250G>A	ENST00000355851.4	+	3	286	c.209G>A	c.(208-210)cGt>cAt	p.R70H	NUB1_ENST00000413040.2_Missense_Mutation_p.R94H|NUB1_ENST00000566856.1_Missense_Mutation_p.R70H|NUB1_ENST00000568733.1_Missense_Mutation_p.R94H	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	70					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GCAATTGAGCGTGGAACAGGA	0.373																																						ENST00000568733.1																			0				endometrium(1)|large_intestine(7)|lung(3)	11						c.(280-282)cGt>cAt		negative regulator of ubiquitin-like proteins 1							126	123	124					7																	151046250		1858	4106	5964	SO:0001583	missense	51667				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding	g.chr7:151046250G>A	AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"NEDD8 ultimate buster-1"	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.209G>A	7.37:g.151046250G>A	ENSP00000348110:p.Arg70His		Somatic				NUB1_ENST00000566856.1_Missense_Mutation_p.R70H|NUB1_ENST00000413040.2_Missense_Mutation_p.R94H|NUB1_ENST00000355851.4_Missense_Mutation_p.R70H	p.R94H			WXS	Illumina GAIIx	Phase_I	Q9Y5A7	NUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	3	347	+			70					O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	ENST00000355851.4	37	c.281G>A		.	.	.	.	.	.	.	.	.	.	G	29.4	5.001214	0.93227	.	.	ENSG00000013374	ENST00000413040;ENST00000355851;ENST00000470229;ENST00000490215;ENST00000483358	T;T;T	0.49139	0.79;0.79;0.79	5.95	5.95	0.96441	.	0.049460	0.85682	D	0.000000	T	0.68686	0.3028	M	0.67953	2.075	0.53005	D	0.999968	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.964;0.984	T	0.69573	-0.5109	10	0.87932	D	0	-14.0334	17.887	0.88858	0.0:0.0:1.0:0.0	.	70;70;70	F8WDL9;Q9Y5A7;Q9Y5A7-2	.;NUB1_HUMAN;.	H	70	ENSP00000348110:R70H;ENSP00000418234:R70H;ENSP00000420086:R70H	ENSP00000348110:R70H	R	+	2	0	NUB1	150677183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.741000	0.68638	2.824000	0.97209	0.655000	0.94253	CGT		0.373	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016118		38	56	0	0	0	1	0	38	56					A	151046250	G	A	151046250	3	1	21	1	0	0	0	0	1	0	0	0	10723	1145	40	1	215	1	NUB1	7	151046250	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	110836	151046250	8092413	314	1739										
MLL3	58508	broad.mit.edu	37	chr7	151873588	151873588	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtttacctgcacaccctgagAaaaaacatggtttaccctag							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:151873588delA	ENST00000262189.6	-	38	9168	c.8950delT	c.(8950-8952)tctfs	p.S2984fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.S2984fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2984					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)										ACACCCTGAGAAAAAACATGG	0.473																																						ENST00000355193.2																			0											c.(8950-8952)ctfs		lysine (K)-specific methyltransferase 2C							55	54	54					7																	151873588		2203	4300	6503	SO:0001589	frameshift_variant	58508							g.chr7:151873588delA	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.8950delT	7.37:g.151873588delA	ENSP00000262189:p.Ser2984fs		Somatic				KMT2C_ENST00000262189.6_Frame_Shift_Del_p.S2984fs	p.S2984fs			WXS	Illumina GAIIx	Phase_I					38	9168	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.8950delT	CCDS5931.1																																																																																				0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			30	27						30	27	---	---	---	---	-	151873588	A	-	151873588	7	5	21	1	0	1	0	1	0	0	0	0	9631	246	9	0	5873	0	MLL3	7	151873588	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	827338	151873588	7265075	315	1740										
MLL3	58508	broad.mit.edu	37	chr7	152055715	152055715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tctgttgtctccagcccatcCatgctgtcctcatcttccac	5	17	4	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:152055715C>T	ENST00000262189.6	-	2	425	c.207G>A	c.(205-207)atG>atA	p.M69I	KMT2C_ENST00000355193.2_Missense_Mutation_p.M69I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	69					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)										CCAGCCCATCCATGCTGTCCT	0.348																																						ENST00000355193.2																			0											c.(205-207)atG>atA		lysine (K)-specific methyltransferase 2C							246	226	233					7																	152055715		2203	4300	6503	SO:0001583	missense	58508							g.chr7:152055715C>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.207G>A	7.37:g.152055715C>T	ENSP00000262189:p.Met69Ile		Somatic				KMT2C_ENST00000262189.6_Missense_Mutation_p.M69I	p.M69I			WXS	Illumina GAIIx	Phase_I					2	425	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.207G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988844	0.53934	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000452749	D;D	0.84370	-1.84;-1.84	5.21	5.21	0.72293	.	0.112130	0.38605	N	0.001640	T	0.78407	0.4278	L	0.29908	0.895	0.80722	D	1	B	0.27498	0.18	B	0.19946	0.027	T	0.75033	-0.3460	10	0.37606	T	0.19	.	17.5194	0.87783	0.0:1.0:0.0:0.0	.	69	Q8NEZ4	MLL3_HUMAN	I	69	ENSP00000262189:M69I;ENSP00000347325:M69I	ENSP00000262189:M69I	M	-	3	0	MLL3	151686648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.769000	0.55303	2.443000	0.82685	0.650000	0.86243	ATG		0.348	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			65	105	0	0	0	1	0	65	105					T	152055715	C	T	152055715	3	4	21	1	0	0	0	0	1	0	0	0	9631	594	21	3	14760	3	MLL3	7	152055715	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	182127	152055715	7082948	316	1741										
ERICH1	157697	broad.mit.edu	37	chr8	623411	623411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cctcctccccggagtctgcaCcctcttcctccccagcccat	5	23	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:623411C>T	ENST00000262109.7	-	4	1018	c.941G>A	c.(940-942)gGt>gAt	p.G314D	ERICH1_ENST00000518277.1_5'Flank|ERICH1_ENST00000522706.1_Missense_Mutation_p.G220D	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	314	Glu-rich.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		GGAGTCTGCACCCTCTTCCTC	0.567																																						ENST00000262109.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20						c.(940-942)gGt>gAt		glutamate-rich 1							139	140	140					8																	623411		2203	4300	6503	SO:0001583	missense	157697							g.chr8:623411C>T		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.941G>A	8.37:g.623411C>T	ENSP00000262109:p.Gly314Asp		Somatic				ERICH1_ENST00000522706.1_Missense_Mutation_p.G220D	p.G314D	NM_207332.1	NP_997215.1	WXS	Illumina GAIIx	Phase_I	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	4	1018	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	314			Glu-rich.		A8K2J9|Q9P063	Missense_Mutation	SNP	ENST00000262109.7	37	c.941G>A	CCDS5955.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.155|8.155	0.788254|0.788254	0.16258|0.16258	.|.	.|.	ENSG00000104714|ENSG00000104714	ENST00000543819;ENST00000522706;ENST00000262109|ENST00000522893	T;T|.	0.37584|.	1.21;1.19|.	2.35|2.35	-4.71|-4.71	0.03279|0.03279	.|.	3.192880|.	0.01879|.	N|.	0.037727|.	T|T	0.08403|0.08403	0.0209|0.0209	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	P;P;P|.	0.38020|.	0.549;0.549;0.615|.	B;B;B|.	0.37144|.	0.189;0.189;0.242|.	T|T	0.34378|0.34378	-0.9831|-0.9831	10|5	0.31617|.	T|.	0.26|.	.|.	5.6751|5.6751	0.17743|0.17743	0.1843:0.5496:0.0:0.2661|0.1843:0.5496:0.0:0.2661	.|.	314;314;220|.	B4DMI5;Q86X53;E5RHA3|.	.;ERIC1_HUMAN;.|.	D|M	314;220;314|83	ENSP00000428635:G220D;ENSP00000262109:G314D|.	ENSP00000262109:G314D|.	G|V	-|-	2|1	0|0	ERICH1|ERICH1	613411|613411	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.492000|-0.492000	0.06467|0.06467	-0.830000|-0.830000	0.04262|0.04262	-0.740000|-0.740000	0.03531|0.03531	GGT|GTG		0.567	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		62	229	0	0	0	1	0	62	229					T	623411	C	T	623411	3	4	21	1	0	0	0	0	1	0	0	0	5232	507	18	3	402	3	ERICH1	8	623411	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08		623411	145740611	317	1742										
DLGAP2	9228	broad.mit.edu	37	chr8	1581004	1581004	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgattgcaggtgagcgaggcGgagatcaatgggcaattcga	16	6	1	3	rs527705861		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:1581004G>A	ENST00000421627.2	+	5	1496	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	533					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.A476A(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGAGCGAGGCGGAGATCAATG	0.572																																						ENST00000421627.2																			1	Substitution - coding silent(1)	p.A476A(1)	pancreas(1)	breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(1360-1362)gcG>gcA		discs, large (Drosophila) homolog-associated protein 2							109	115	113					8																	1581004		2183	4272	6455	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1581004G>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.1362G>A	8.37:g.1581004G>A			Somatic					p.A454A	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)	5	1496	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	533					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.1362G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	0.371	-0.933905	0.02340	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.06	-10.1	0.00402	.	.	.	.	.	T	0.34250	0.0891	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50550	-0.8815	4	.	.	.	-15.8913	2.5798	0.04816	0.4052:0.2479:0.0658:0.281	.	.	.	.	Q	471	.	.	R	+	2	0	DLGAP2	1568411	0.000000	0.05858	0.001000	0.08648	0.122000	0.20287	-5.046000	0.00156	-3.988000	0.00084	-0.378000	0.06908	CGG		0.572	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		27	23	0	0	0	1	0	27	23					A	1581004	G	A	1581004	2	1	21	1	0	0	0	0	0	0	0	1	4562	1103	39	1		1	DLGAP2	8	1581004	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	957593	1581004	144783018	318	1743										
SPAG11B	10407	broad.mit.edu	37	chr8	7308689	7308690	+	Frame_Shift_Ins	INS	-	-	G													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tccacacagatcctaaatgaINSgggtcctcgagcctcccggt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:7308689_7308690insG	ENST00000297498.2	-	3	412_413	c.246_247insC	c.(244-249)ccctcafs	p.S83fs	SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000528168.1_Frame_Shift_Ins_p.S30fs|SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000458665.1_Intron	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	83					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		ATCCTAAATGAGGGTCCTCGAG	0.46																																						ENST00000297498.2																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.(244-249)cccattfs		sperm associated antigen 11B																																				SO:0001589	frameshift_variant	10407				spermatogenesis	extracellular region		g.chr8:7308689_7308690insG	AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"epididymal protein 2B"	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.247dupC	8.37:g.7308692_7308692dupG	ENSP00000297498:p.Ser83fs		Somatic				SPAG11B_ENST00000458665.1_Intron|SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000528168.1_Frame_Shift_Ins_p.I30fs|SPAG11B_ENST00000361111.2_Intron	p.I83fs	NM_016512.3	NP_057596.1	WXS	Illumina GAIIx	Phase_I	Q08648	SG11B_HUMAN		COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)	3	412_413	-			83					E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Frame_Shift_Ins	INS	ENST00000297498.2	37	c.246_247insC	CCDS5966.1																																																																																				0.46	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251390.2	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		80	65						80	65	---	---	---	---	G	7308690	-	G	7308689	7	5	21	1	0	1	1	0	0	0	0	0	14992	304	11	0	277	0	SPAG11B	8	7308689	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	5727685	7308689	139055333	319	1744										
MTUS1	57509	broad.mit.edu	37	chr8	17611442	17611442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcagaaacggacccggtctcGcatgctgagttagaagaact	12	10	1	4	rs201959113		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:17611442G>A	ENST00000262102.6	-	2	2099	c.1875C>T	c.(1873-1875)tgC>tgT	p.C625C	MTUS1_ENST00000381862.3_Silent_p.C625C|MTUS1_ENST00000381869.3_Silent_p.C625C|MTUS1_ENST00000519263.1_Silent_p.C625C	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	625					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)		ACCCGGTCTCGCATGCTGAGT	0.433													G|||	1	0.000199681	0	0	5008	,	,		17758	0		0.001	False		,,,				2504	0					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.(1873-1875)tgC>tgT		microtubule associated tumor suppressor 1							160	146	150					8																	17611442		1888	4116	6004	SO:0001819	synonymous_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611442G>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.1875C>T	8.37:g.17611442G>A			Somatic				MTUS1_ENST00000262102.6_Silent_p.C625C|MTUS1_ENST00000519263.1_Silent_p.C625C|MTUS1_ENST00000381862.3_Silent_p.C625C	p.C625C	NM_001001925.2	NP_001001925.1	WXS	Illumina GAIIx	Phase_I	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2348	-			625					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	c.1875C>T	CCDS43717.1																																																																																				0.433	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		79	219	0	0	0	1	0	79	219					A	17611442	G	A	17611442	2	1	21	1	0	0	0	0	0	0	0	1	9974	1079	38	1		1	MTUS1	8	17611442	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	10302753	17611442	128752580	320	1745										
PSD3	23362	broad.mit.edu	37	chr8	18729144	18729145	+	Frame_Shift_Ins	INS	-	-	TC													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgggagctcacctttccctgINStctctctctggtttaggtgt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:18729144_18729145insTC	ENST00000327040.8	-	3	1331_1332	c.1229_1230insGA	c.(1228-1230)gacfs	p.D410fs	PSD3_ENST00000523619.1_Frame_Shift_Ins_p.D345fs|PSD3_ENST00000440756.2_Frame_Shift_Ins_p.D410fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	410					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)		ACCTTTCCCTGTCTCTCTCTGG	0.45																																						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.(1228-1230)gagfs		pleckstrin and Sec7 domain containing 3																																				SO:0001589	frameshift_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18729144_18729145insTC	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.1228_1229dupGA	8.37:g.18729151_18729152dupTC	ENSP00000324127:p.Asp410fs		Somatic				PSD3_ENST00000523619.1_Frame_Shift_Ins_p.E345fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.E410fs	p.E410fs			WXS	Illumina GAIIx	Phase_I	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	3	1331_1332	-			410					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Frame_Shift_Ins	INS	ENST00000327040.8	37	c.1229_1230insGA	CCDS43720.1																																																																																				0.45	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		77	64						77	64	---	---	---	---	TC	18729145	-	TC	18729144	7	5	21	1	0	1	1	0	0	0	0	0	12660	1368	48	0	2005	0	PSD3	8	18729144	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	1117702	18729144	127634878	321	1746										
BMP1	649	broad.mit.edu	37	chr8	22034617	22034617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cactcggccagaccgggaccGccacgtttccatcgttcgtg	11	16	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:22034617G>A	ENST00000306385.5	+	5	1365	c.695G>A	c.(694-696)cGc>cAc	p.R232H	BMP1_ENST00000306349.8_Missense_Mutation_p.R232H|BMP1_ENST00000354870.5_Missense_Mutation_p.R232H|BMP1_ENST00000397816.3_Missense_Mutation_p.R232H|BMP1_ENST00000397814.3_Missense_Mutation_p.R232H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	232	Metalloprotease.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GACCGGGACCGCCACGTTTCC	0.647																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(694-696)cGc>cAc		bone morphogenetic protein 1							50	38	42					8																	22034617		2202	4300	6502	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22034617G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.695G>A	8.37:g.22034617G>A	ENSP00000305714:p.Arg232His		Somatic				BMP1_ENST00000397816.3_Missense_Mutation_p.R232H|BMP1_ENST00000397814.3_Missense_Mutation_p.R232H|BMP1_ENST00000306349.8_Missense_Mutation_p.R232H|BMP1_ENST00000354870.5_Missense_Mutation_p.R232H	p.R232H	NM_006129.4	NP_006120.1	WXS	Illumina GAIIx	Phase_I	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	5	1365	+			232			Metalloprotease.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.695G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145778	0.57044	.	.	ENSG00000168487	ENST00000306385;ENST00000354870;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	4.45	2.47	0.30058	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.466719	0.15979	U	0.235368	T	0.39989	0.1099	N	0.17082	0.46	0.36924	D	0.891527	B;B;B	0.24092	0.0;0.097;0.001	B;B;B	0.15870	0.001;0.014;0.002	T	0.40720	-0.9548	10	0.51188	T	0.08	.	5.0435	0.14471	0.3498:0.0:0.6502:0.0	.	232;232;232	P13497;P13497-2;P13497-6	BMP1_HUMAN;.;.	H	232	ENSP00000305714:R232H;ENSP00000346941:R232H;ENSP00000380917:R232H;ENSP00000306121:R232H;ENSP00000380915:R232H	ENSP00000306121:R232H	R	+	2	0	BMP1	22090562	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.474000	0.81024	1.084000	0.41184	0.491000	0.48974	CGC		0.647	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		7	28	0	0	0	1	0	7	28					A	22034617	G	A	22034617	3	1	21	1	0	0	0	0	1	0	0	0	1456	1087	38	1	713	1	BMP1	8	22034617	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3305473	22034617	124329405	322	1747										
EBF2	64641	broad.mit.edu	37	chr8	25715915	25715915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agttggccatggggacattgCtgtagccattcatactgttg	12	8	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:25715915C>T	ENST00000520164.1	-	14	1985	c.1448G>A	c.(1447-1449)aGc>aAc	p.S483N	EBF2_ENST00000408929.3_Missense_Mutation_p.S335N|EBF2_ENST00000535548.1_Missense_Mutation_p.S214N	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	483	Pro/Ser/Thr-rich.			S -> G (in Ref. 1; AAU10086). {ECO:0000305}.	adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GGGGACATTGCTGTAGCCATT	0.517																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1447-1449)aGc>aAc		early B-cell factor 2							147	152	150					8																	25715915		2028	4187	6215	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25715915C>T	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1448G>A	8.37:g.25715915C>T	ENSP00000430241:p.Ser483Asn		Somatic				EBF2_ENST00000408929.3_Missense_Mutation_p.S335N|EBF2_ENST00000535548.1_Missense_Mutation_p.S214N	p.S483N	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)	14	1985	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	483			Pro/Ser/Thr-rich.		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.1448G>A	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364447	0.41902	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.47528	0.84;0.84;0.84	5.43	5.43	0.79202	.	0.080897	0.85682	D	0.000000	T	0.39332	0.1074	N	0.22421	0.69	0.49915	D	0.999839	B	0.26120	0.142	B	0.29077	0.098	T	0.18493	-1.0335	10	0.40728	T	0.16	-24.4496	18.2104	0.89868	0.0:1.0:0.0:0.0	.	483	Q9HAK2	COE2_HUMAN	N	483;335;214	ENSP00000430241:S483N;ENSP00000386178:S335N;ENSP00000437909:S214N	ENSP00000386178:S335N	S	-	2	0	EBF2	25771832	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	7.814000	0.86154	2.537000	0.85549	0.655000	0.94253	AGC		0.517	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		38	120	0	0	0	1	0	38	120					T	25715915	C	T	25715915	3	4	21	1	0	0	0	0	1	0	0	0	4883	797	28	3	291	3	EBF2	8	25715915	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3681298	25715915	120648107	323	1748										
PNMA2	10687	broad.mit.edu	37	chr8	26365217	26365217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tccagcggccatagccatctCgttcctctggctcttcgata	8	15	3	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:26365217C>T	ENST00000522362.2	-	3	1949	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	352					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		ATAGCCATCTCGTTCCTCTGG	0.522																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(1054-1056)cGa>cAa		paraneoplastic Ma antigen 2							104	104	104					8																	26365217		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26365217C>T		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"Paraneoplastic Ma antigens"	9159	protein-coding gene	gene with protein product		603970	"paraneoplastic antigen MA2"			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.1055G>A	8.37:g.26365217C>T	ENSP00000429344:p.Arg352Gln		Somatic					p.R352Q	NM_007257.5	NP_009188.1	WXS	Illumina GAIIx	Phase_I	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1949	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	352					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.1055G>A	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	C	8.666	0.901702	0.17760	.	.	ENSG00000240694	ENST00000522362	T	0.08807	3.05	4.32	0.307	0.15811	.	.	.	.	.	T	0.04724	0.0128	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45086	-0.9285	9	0.22109	T	0.4	-12.0259	3.6754	0.08290	0.1523:0.5085:0.2471:0.0922	.	352	Q9UL42	PNMA2_HUMAN	Q	352	ENSP00000429344:R352Q	ENSP00000429344:R352Q	R	-	2	0	PNMA2	26421134	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.694000	0.25512	0.046000	0.15833	-0.150000	0.13652	CGA		0.522	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		55	212	0	0	0	1	0	55	212					T	26365217	C	T	26365217	3	4	21	1	0	0	0	0	1	0	0	0	12163	884	31	1	43	1	PNMA2	8	26365217	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	649302	26365217	119998805	324	1749										
DPYSL2	1808	broad.mit.edu	37	chr8	26481666	26481666	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgtttctttctagttgaccaCgttgttcctgagcctgggac	10	10	2	2	rs113199330	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:26481666C>T	ENST00000311151.5	+	4	733	c.321C>T	c.(319-321)caC>caT	p.H107H	DPYSL2_ENST00000521913.1_Silent_p.H71H|DPYSL2_ENST00000523027.1_Silent_p.H71H	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	107					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TAGTTGACCACGTTGTTCCTG	0.532													C|||	26	0.00519169	0	0	5008	,	,		20200	0.0228		0.002	False		,,,				2504	0.001					ENST00000311151.5																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.(319-321)caC>caT		dihydropyrimidinase-like 2		C	,	0,4406		0,0,2203	125	116	119		636,321	-4.3	0.5	8	dbSNP_132	119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DPYSL2	NM_001197293.2,NM_001386.5	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	212/678,107/573	26481666	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26481666C>T	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.321C>T	8.37:g.26481666C>T			Somatic				DPYSL2_ENST00000523027.1_Silent_p.H71H|DPYSL2_ENST00000521913.1_Silent_p.H71H	p.H107H	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)	4	733	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	107					A8K5H2|B4DR31|D3DSS7|O00424	Silent	SNP	ENST00000311151.5	37	c.321C>T	CCDS6051.1																																																																																				0.532	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		16	104	0	0	0	1	0	16	104					T	26481666	C	T	26481666	2	4	21	1	0	0	0	0	0	0	0	1	4749	535	19	1		1	DPYSL2	8	26481666	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	116449	26481666	119882356	325	1750										
FBXO16	157574	broad.mit.edu	37	chr8	28314409	28314409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aaacatttcagcatccagagCtggtccagctcagcaaggtt	9	11	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:28314409C>T	ENST00000380254.2	-	5	529	c.381G>A	c.(379-381)caG>caA	p.Q127Q	FBXO16_ENST00000518734.1_Silent_p.Q115Q|RP11-181B11.2_ENST00000518819.1_RNA|FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000346498.2_Silent_p.Q115Q|RP11-181B11.2_ENST00000523935.1_RNA	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	127	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									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)		GCATCCAGAGCTGGTCCAGCT	0.423																																						ENST00000380254.2																			0				large_intestine(2)|ovary(1)	3						c.(379-381)caG>caA		F-box protein 16							79	72	75					8																	28314409		2203	4300	6503	SO:0001819	synonymous_variant	157574							g.chr8:28314409C>T	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.381G>A	8.37:g.28314409C>T			Somatic				FBXO16_ENST00000346498.2_Silent_p.Q115Q|FBXO16_ENST00000518734.1_Silent_p.Q115Q|FBXO16_ENST00000517436.1_5'UTR	p.Q127Q	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)	5	529	-		Ovarian(32;2.06e-05)	127			F-box.		Q3T1B2|Q3T1B3|Q3T1B4	Silent	SNP	ENST00000380254.2	37	c.381G>A	CCDS6068.1																																																																																				0.423	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		89	27	0	0	0	1	0	89	27					T	28314409	C	T	28314409	2	4	21	1	0	0	0	0	0	0	0	1	5737	796	28	3		3	FBXO16	8	28314409	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1832743	28314409	118049613	326	1751										
FZD3	7976	broad.mit.edu	37	chr8	28384902	28384902	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctcgctatttcataggattgAtttcaatcatttgcctctcg	6	10	4	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:28384902A>G	ENST00000240093.3	+	5	1103	c.625A>G	c.(625-627)Att>Gtt	p.I209V	FZD3_ENST00000537916.1_Missense_Mutation_p.I209V	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	209					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)			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)		CATAGGATTGATTTCAATCAT	0.363																																						ENST00000240093.3																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41						c.(625-627)Att>Gtt		frizzled family receptor 3							173	165	167					8																	28384902		2203	4300	6503	SO:0001583	missense	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.chr8:28384902A>G	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.625A>G	8.37:g.28384902A>G	ENSP00000240093:p.Ile209Val		Somatic				FZD3_ENST00000537916.1_Missense_Mutation_p.I209V	p.I209V	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	1103	+		Ovarian(32;2.06e-05)	209					A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.625A>G	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	A	0.284	-0.984478	0.02180	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	T;T	0.81415	-1.49;-1.49	5.24	4.08	0.47627	GPCR, family 2-like (1);	0.118979	0.56097	D	0.000023	T	0.56543	0.1992	N	0.05124	-0.11	0.40719	D	0.982642	B	0.06786	0.001	B	0.13407	0.009	T	0.51896	-0.8647	10	0.02654	T	1	.	10.2739	0.43499	0.922:0.0:0.078:0.0	.	209	Q9NPG1	FZD3_HUMAN	V	209	ENSP00000437489:I209V;ENSP00000240093:I209V	ENSP00000240093:I209V	I	+	1	0	FZD3	28440821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.636000	0.54317	0.827000	0.34685	0.533000	0.62120	ATT		0.363	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		34	155	0	0	0	1	0	34	155					G	28384902	A	G	28384902	3	3	21	1	0	0	0	0	1	0	0	0	6139	333	12	4	635	4	FZD3	8	28384902	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	70493	28384902	117979120	327	1752										
GSR	2936	broad.mit.edu	37	chr8	30539472	30539473	+	Frame_Shift_Ins	INS	-	-	G													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgagtcccactgtcccaataINSggggggtggctgaagaccac							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:30539472_30539473insG	ENST00000221130.5	-	11	1349_1350	c.1259_1260insC	c.(1258-1260)cctfs	p.P420fs	GSR_ENST00000537535.1_Frame_Shift_Ins_p.P338fs|GSR_ENST00000414019.1_Frame_Shift_Ins_p.P377fs|GSR_ENST00000541648.1_Frame_Shift_Ins_p.P367fs|GSR_ENST00000546342.1_Frame_Shift_Ins_p.P391fs	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	420					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	CTGTCCCAATAGGGGGGTGGCT	0.441																																						ENST00000221130.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23						c.(1258-1260)catfs		glutathione reductase	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)																																			SO:0001589	frameshift_variant	2936				cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30539472_30539473insG		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.1260dupC	8.37:g.30539478_30539478dupG	ENSP00000221130:p.Pro420fs		Somatic				GSR_ENST00000537535.1_Frame_Shift_Ins_p.H338fs|GSR_ENST00000546342.1_Frame_Shift_Ins_p.H391fs|GSR_ENST00000541648.1_Frame_Shift_Ins_p.H367fs|GSR_ENST00000414019.1_Frame_Shift_Ins_p.H377fs	p.H420fs	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	WXS	Illumina GAIIx	Phase_I	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	11	1349_1350	-			420					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Frame_Shift_Ins	INS	ENST00000221130.5	37	c.1259_1260insC	CCDS34877.1																																																																																				0.441	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1			26	126						26	126	---	---	---	---	G	30539473	-	G	30539472	7	5	21	1	0	1	1	0	0	0	0	0	6837	407	15	0	320	0	GSR	8	30539472	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	2154570	30539472	115824550	328	1753										
GSR	2936	broad.mit.edu	37	chr8	30560725	30560725	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggcttgggatcactcgtgaaGgctgcatggccacggatgat	15	9	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:30560725G>T	ENST00000221130.5	-	5	615	c.525C>A	c.(523-525)gcC>gcA	p.A175A	GSR_ENST00000546342.1_Silent_p.A175A|GSR_ENST00000537535.1_Silent_p.A175A|GSR_ENST00000414019.1_Silent_p.A132A|GSR_ENST00000541648.1_Silent_p.A175A	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	175					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	CACTCGTGAAGGCTGCATGGC	0.483																																						ENST00000221130.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23						c.(523-525)gcC>gcA		glutathione reductase	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)						200	168	179					8																	30560725		2203	4300	6503	SO:0001819	synonymous_variant	2936				cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30560725G>T		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.525C>A	8.37:g.30560725G>T			Somatic				GSR_ENST00000546342.1_Silent_p.A175A|GSR_ENST00000541648.1_Silent_p.A175A|GSR_ENST00000537535.1_Silent_p.A175A|GSR_ENST00000414019.1_Silent_p.A132A	p.A175A	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	WXS	Illumina GAIIx	Phase_I	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	5	615	-			175					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Silent	SNP	ENST00000221130.5	37	c.525C>A	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	G	0.998	-0.691942	0.03303	.	.	ENSG00000104687	ENST00000520888	.	.	.	6.14	-12.3	0.00002	.	.	.	.	.	T	0.39279	0.1072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47182	-0.9137	4	.	.	.	-11.2127	4.7682	0.13142	0.1569:0.2969:0.4217:0.1246	.	.	.	.	I	131	.	.	L	-	1	0	GSR	30680267	0.000000	0.05858	0.003000	0.11579	0.055000	0.15305	-1.364000	0.02590	-2.116000	0.00830	-1.157000	0.01802	CTT		0.483	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1			13	198	1	0	4.3838e-07	1	4.56061e-07	13	198					T	30560725	G	T	30560725	2	4	21	1	0	0	0	0	0	0	0	1	6837	987	35	5		5	GSR	8	30560725	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	21253	30560725	115803297	329	1754										
GPR124	25960	broad.mit.edu	37	chr8	37693106	37693106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggcctccatccagctgccccCgagtctattctcatcccttc	6	19	2	0	rs370919357		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:37693106C>T	ENST00000412232.2	+	13	1881	c.1868C>T	c.(1867-1869)cCg>cTg	p.P623L	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	623					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)			CAGCTGCCCCCGAGTCTATTC	0.647													C|||	1	0.000199681	0	0.0014	5008	,	,		12429	0		0	False		,,,				2504	0					ENST00000412232.2																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1867-1869)cCg>cTg		G protein-coupled receptor 124		C	LEU/PRO	0,4406		0,0,2203	77	93	87		1868	5.3	1	8		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR124	NM_032777.9	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	623/1339	37693106	1,13005	2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37693106C>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1868C>T	8.37:g.37693106C>T	ENSP00000406367:p.Pro623Leu		Somatic				GPR124_ENST00000315215.7_Intron	p.P623L	NM_032777.9	NP_116166.9	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)		13	1881	+			623					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1868C>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106064	0.77096	0.0	1.16E-4	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.57595	0.39	5.29	5.29	0.74685	.	0.201328	0.43579	D	0.000547	T	0.50222	0.1603	L	0.59436	1.845	0.80722	D	1	P	0.40681	0.727	B	0.33960	0.173	T	0.58792	-0.7574	10	0.62326	D	0.03	-27.3238	18.9399	0.92601	0.0:1.0:0.0:0.0	.	623	Q96PE1	GP124_HUMAN	L	616;623	ENSP00000406367:P623L	ENSP00000406367:P623L	P	+	2	0	GPR124	37812264	0.998000	0.40836	1.000000	0.80357	0.748000	0.42578	2.875000	0.48491	2.497000	0.84241	0.655000	0.94253	CCG		0.647	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			82	298	0	0	0	1	0	82	298					T	37693106	C	T	37693106	3	4	21	1	0	0	0	0	1	0	0	0	6646	652	23	1	1897	1	GPR124	8	37693106	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	7132381	37693106	108670916	330	1755										
HTRA4	203100	broad.mit.edu	37	chr8	38835513	38835513	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctgggaagatcatctgacctTcgggctggagagtttgtggt	15	7	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:38835513T>C	ENST00000302495.4	+	4	913	c.813T>C	c.(811-813)ctT>ctC	p.L271L		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	271	Serine protease.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CATCTGACCTTCGGGCTGGAG	0.517																																						ENST00000302495.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11						c.(811-813)ctT>ctC		HtrA serine peptidase 4							136	113	121					8																	38835513		2203	4300	6503	SO:0001819	synonymous_variant	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38835513T>C	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.813T>C	8.37:g.38835513T>C			Somatic					p.L271L	NM_153692.3	NP_710159.1	WXS	Illumina GAIIx	Phase_I	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		4	913	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	271			Serine protease.		Q542Z4|Q6PF13	Silent	SNP	ENST00000302495.4	37	c.813T>C	CCDS6110.1																																																																																				0.517	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		52	168	0	0	0	1	0	52	168					C	38835513	T	C	38835513	2	2	21	1	0	0	0	0	0	0	0	1	7465	1770	62	4		4	HTRA4	8	38835513	Silent	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1142407	38835513	107528509	331	1756										
AP3M2	10947	broad.mit.edu	37	chr8	42022614	42022614	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acaattactgctgagatccaGggggtgattgatgcctgtgt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:42022614delG	ENST00000518421.1	+	6	900	c.609delG	c.(607-609)cagfs	p.Q203fs	AP3M2_ENST00000396926.3_Frame_Shift_Del_p.Q203fs|AP3M2_ENST00000174653.3_Frame_Shift_Del_p.Q203fs|AP3M2_ENST00000517922.1_Frame_Shift_Del_p.Q203fs|AP3M2_ENST00000520685.1_Intron	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	203	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			CTGAGATCCAGGGGGTGATTG	0.443																																						ENST00000518421.1																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17						c.(607-609)cafs		adaptor-related protein complex 3, mu 2 subunit							89	83	85					8																	42022614		2203	4300	6503	SO:0001589	frameshift_variant	10947				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		g.chr8:42022614delG	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.609delG	8.37:g.42022614delG	ENSP00000428787:p.Gln203fs		Somatic				AP3M2_ENST00000174653.3_Frame_Shift_Del_p.Q203fs|AP3M2_ENST00000396926.3_Frame_Shift_Del_p.Q203fs|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000517922.1_Frame_Shift_Del_p.Q203fs	p.Q203fs	NM_001134296.1	NP_001127768.1	WXS	Illumina GAIIx	Phase_I	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		6	900	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	203			MHD.		B2RCR0|D3DSY2|Q7Z472	Frame_Shift_Del	DEL	ENST00000518421.1	37	c.609delG	CCDS6125.1																																																																																				0.443	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1			19	89						19	89	---	---	---	---	-	42022614	G	-	42022614	7	5	21	1	0	1	0	1	0	0	0	0	748	991	35	0	623	0	AP3M2	8	42022614	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3187101	42022614	104341408	332	1757										
SLC20A2	6575	broad.mit.edu	37	chr8	42275398	42275398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cccagccacagggacggtcaCgaaccaggccacgaagatgt	12	14	1	1	rs200761348		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:42275398C>T	ENST00000342228.3	-	11	2251	c.1882G>A	c.(1882-1884)Gtg>Atg	p.V628M	SLC20A2_ENST00000520262.1_Missense_Mutation_p.V628M|SLC20A2_ENST00000520179.1_Missense_Mutation_p.V628M	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	628					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGGACGGTCACGAACCAGGCC	0.592																																						ENST00000342228.3																			0				breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26						c.(1882-1884)Gtg>Atg		solute carrier family 20 (phosphate transporter), member 2							80	72	75					8																	42275398		2203	4300	6503	SO:0001583	missense	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42275398C>T		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"Solute carriers"	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1882G>A	8.37:g.42275398C>T	ENSP00000340465:p.Val628Met		Somatic				SLC20A2_ENST00000520179.1_Missense_Mutation_p.V628M|SLC20A2_ENST00000520262.1_Missense_Mutation_p.V628M	p.V628M	NM_006749.4	NP_006740.1	WXS	Illumina GAIIx	Phase_I	Q08357	S20A2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		11	2251	-	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	628						Missense_Mutation	SNP	ENST00000342228.3	37	c.1882G>A	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096072	0.94197	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.91180	-2.8;-2.8;-2.8	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.95245	0.8458	M	0.85777	2.775	0.80722	D	1	D	0.65815	0.995	P	0.61070	0.883	D	0.94281	0.7520	10	0.44086	T	0.13	-32.378	18.3732	0.90420	0.0:1.0:0.0:0.0	.	628	Q08357	S20A2_HUMAN	M	628	ENSP00000340465:V628M;ENSP00000429754:V628M;ENSP00000429712:V628M	ENSP00000340465:V628M	V	-	1	0	SLC20A2	42394555	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GTG		0.592	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			79	64	0	0	0	1	0	79	64					T	42275398	C	T	42275398	3	4	21	1	0	0	0	0	1	0	0	0	14454	536	19	1	80	1	SLC20A2	8	42275398	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	252784	42275398	104088624	333	1758										
PRKDC	5591	broad.mit.edu	37	chr8	48701554	48701555	+	Frame_Shift_Ins	INS	-	-	T													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tttcatacattttttcaatgINSttttttttatttacaggggt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:48701554_48701555insT	ENST00000314191.2	-	77	10867_10868	c.10811_10812insA	c.(10810-10812)aacfs	p.N3604fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.N3604fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3605					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)	TTTTTTCAATGTTTTTTTTATT	0.401								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.(10810-10812)aatfs	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide																																				SO:0001589	frameshift_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.chr8:48701554_48701555insT		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.10812dupA	8.37:g.48701562_48701562dupT	ENSP00000313420:p.Asn3604fs		Somatic				PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.N3604fs|PRKDC_ENST00000523565.1_5'UTR	p.N3604fs	NM_006904.6	NP_008835.5	WXS	Illumina GAIIx	Phase_I	P78527	PRKDC_HUMAN			77	10867_10868	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3605					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Ins	INS	ENST00000314191.2	37	c.10811_10812insA																																																																																					0.401	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		22	121						22	121	---	---	---	---	T	48701555	-	T	48701554	7	5	21	1	0	1	1	0	0	0	0	0	12533	1368	48	0	1615	0	PRKDC	8	48701554	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	6426156	48701554	97662468	334	1759										
PRKDC	5591	broad.mit.edu	37	chr8	48801143	48801143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtttacaggcagacacaacaGcagccagcctgctcctgtcc	9	15	0	1	rs567674136		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:48801143G>A	ENST00000314191.2	-	35	4402	c.4346C>T	c.(4345-4347)gCt>gTt	p.A1449V	PRKDC_ENST00000523565.1_5'UTR|AC103686.1_ENST00000390136.2_RNA|PRKDC_ENST00000338368.3_Missense_Mutation_p.A1449V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1450					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)	AGACACAACAGCAGCCAGCCT	0.448								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.(4345-4347)gCt>gTt	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							29	31	30					8																	48801143		1988	4188	6176	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.chr8:48801143G>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.4346C>T	8.37:g.48801143G>A	ENSP00000313420:p.Ala1449Val		Somatic				PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A1449V	p.A1449V	NM_006904.6	NP_008835.5	WXS	Illumina GAIIx	Phase_I	P78527	PRKDC_HUMAN			35	4402	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1450					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.4346C>T		.	.	.	.	.	.	.	.	.	.	G	13.90	2.376311	0.42105	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02525	4.33;4.26	5.37	5.37	0.77165	.	0.570773	0.18553	N	0.137856	T	0.03305	0.0096	N	0.19112	0.55	0.09310	N	1	B;B	0.22800	0.075;0.075	B;B	0.27500	0.08;0.055	T	0.49634	-0.8919	10	0.18276	T	0.48	.	19.1121	0.93319	0.0:0.0:1.0:0.0	.	1449;1450	E7EUY0;P78527	.;PRKDC_HUMAN	V	1449	ENSP00000313420:A1449V;ENSP00000345182:A1449V	ENSP00000313420:A1449V	A	-	2	0	PRKDC	48963696	1.000000	0.71417	0.006000	0.13384	0.506000	0.33950	7.050000	0.76620	2.517000	0.84864	0.591000	0.81541	GCT		0.448	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	15	0	0	0	1	0	7	15					A	48801143	G	A	48801143	3	1	21	1	0	0	0	0	1	0	0	0	12533	971	34	3	8249	3	PRKDC	8	48801143	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	99589	48801143	97562879	335	1760										
PXDNL	137902	broad.mit.edu	37	chr8	52336136	52336136	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggagctatagacacctaccCgtgactgtaagaaacatgtt	9	9	0	3	rs530811126		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:52336136C>A	ENST00000356297.4	-	14	1894	c.1794G>T	c.(1792-1794)acG>acT	p.T598T	PXDNL_ENST00000543296.1_Splice_Site_p.T598T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	598					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)				GACACCTACCCGTGACTGTAA	0.438																																						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.e14+1		peroxidasin homolog (Drosophila)-like							92	96	95					8																	52336136		2047	4195	6242	SO:0001630	splice_region_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52336136C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1795+1G>T	8.37:g.52336136C>A			Somatic				PXDNL_ENST00000543296.1_Splice_Site_p.T598_splice	p.T598_splice	NM_144651.4	NP_653252.3	WXS	Illumina GAIIx	Phase_I	A1KZ92	PXDNL_HUMAN			14	1894	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	598					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Splice_Site	SNP	ENST00000356297.4	37	c.1795_splice	CCDS47855.1																																																																																				0.438	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	Silent	19	45	1	0	5.3912e-06	1	5.55592e-06	19	45					A	52336136	C	A	52336136	5	1	21	1	0	0	0	0	0	0	1	0	12863	666	23	5	2637	5	PXDNL	8	52336136	Splice_Site	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3534993	52336136	94027886	336	1761										
RB1CC1	9821	broad.mit.edu	37	chr8	53586500	53586500	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	taacaaagagacattaaaaaAgggcagatcaccatctttag	7	7	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:53586500A>G	ENST00000025008.5	-	7	1430	c.907T>C	c.(907-909)Ttt>Ctt	p.F303L	RB1CC1_ENST00000435644.2_Missense_Mutation_p.F303L|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.F303L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	303					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)				ACATTAAAAAAGGGCAGATCA	0.388																																					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.(907-909)Ttt>Ctt		RB1-inducible coiled-coil 1							129	118	122					8																	53586500		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.chr8:53586500A>G	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.907T>C	8.37:g.53586500A>G	ENSP00000025008:p.Phe303Leu		Somatic				RB1CC1_ENST00000435644.2_Missense_Mutation_p.F303L|RB1CC1_ENST00000539297.1_Missense_Mutation_p.F303L|RB1CC1_ENST00000521611.1_Intron	p.F303L	NM_014781.4	NP_055596.3	WXS	Illumina GAIIx	Phase_I	Q8TDY2	RBCC1_HUMAN			7	1430	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	303					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.907T>C	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.125187	0.56721	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.12984	2.63;2.63;2.63	5.49	4.33	0.51752	.	0.464330	0.23552	N	0.046955	T	0.06462	0.0166	N	0.08118	0	0.33849	D	0.632362	B;B	0.19706	0.038;0.022	B;B	0.18561	0.022;0.01	T	0.22138	-1.0225	10	0.08599	T	0.76	-11.4877	11.2999	0.49300	0.9284:0.0:0.0716:0.0	.	303;303	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	L	303	ENSP00000025008:F303L;ENSP00000396067:F303L;ENSP00000445960:F303L	ENSP00000025008:F303L	F	-	1	0	RB1CC1	53749053	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	3.963000	0.56773	1.020000	0.39573	0.460000	0.39030	TTT		0.388	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		121	49	0	0	0	1	0	121	49					G	53586500	A	G	53586500	3	3	21	1	0	0	0	0	1	0	0	0	13114	72	3	4	3949	4	RB1CC1	8	53586500	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	1250364	53586500	92777522	337	1762										
OPRK1	4986	broad.mit.edu	37	chr8	54163550	54163550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggcaggcaggcgctcggggcGcaggtagggcccggctcccc	19	15	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:54163550G>A	ENST00000265572.3	-	2	345	c.48C>T	c.(46-48)tgC>tgT	p.C16C	OPRK1_ENST00000520287.1_Silent_p.C16C	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	16					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CGCTCGGGGCGCAGGTAGGGC	0.741																																						ENST00000265572.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(46-48)tgC>tgT		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						6	9	8					8																	54163550		2032	4068	6100	SO:0001819	synonymous_variant	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54163550G>A		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.48C>T	8.37:g.54163550G>A			Somatic				OPRK1_ENST00000520287.1_Silent_p.C16C	p.C16C	NM_000912.3	NP_000903.2	WXS	Illumina GAIIx	Phase_I	P41145	OPRK_HUMAN			2	345	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	16					E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	c.48C>T	CCDS6152.1																																																																																				0.741	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			17	33	0	0	0	1	0	17	33					A	54163550	G	A	54163550	2	1	21	1	0	0	0	0	0	0	0	1	10894	1079	38	1		1	OPRK1	8	54163550	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	577050	54163550	92200472	338	1763										
SOX17	64321	broad.mit.edu	37	chr8	55371765	55371766	+	Frame_Shift_Ins	INS	-	-	G													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aagcggctgaagcgggtggaINSgggcggcttcctgcacggcc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:55371765_55371766insG	ENST00000297316.4	+	2	659_660	c.455_456insG	c.(454-459)gagggcfs	p.EG152fs		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	152					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)			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)			AAGCGGGTGGAGGGCGGCTTCC	0.743																																						ENST00000297316.4																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18						c.(454-456)gggfs		SRY (sex determining region Y)-box 17																																				SO:0001589	frameshift_variant	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.chr8:55371765_55371766insG	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.458dupG	8.37:g.55371768_55371768dupG	ENSP00000297316:p.Glu152fs		Somatic					p.G152fs	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	659_660	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	152						Frame_Shift_Ins	INS	ENST00000297316.4	37	c.455_456insG	CCDS6159.1																																																																																				0.743	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			21	7						21	7	---	---	---	---	G	55371766	-	G	55371765	7	5	21	1	0	1	1	0	0	0	0	0	14962	304	11	0	461	0	SOX17	8	55371765	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	1208215	55371765	90992257	339	1764										
LYN	4067	broad.mit.edu	37	chr8	56863330	56863330	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gctttccttattagagaaagTgaaacattaaaaggtaggaa	9	4	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:56863330T>C	ENST00000519728.1	+	6	770	c.474T>C	c.(472-474)agT>agC	p.S158S	LYN_ENST00000520220.2_Silent_p.S137S	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	158	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	TTAGAGAAAGTGAAACATTAA	0.373																																						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.(409-411)agT>agC		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							72	80	77					8																	56863330		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.chr8:56863330T>C	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.474T>C	8.37:g.56863330T>C			Somatic				LYN_ENST00000519728.1_Silent_p.S158S	p.S137S	NM_001111097.2	NP_001104567.1	WXS	Illumina GAIIx	Phase_I	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		6	685	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	158			SH2.		A0AVQ5	Silent	SNP	ENST00000519728.1	37	c.411T>C	CCDS6162.1																																																																																				0.373	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		25	122	0	0	0	1	0	25	122					C	56863330	T	C	56863330	2	2	21	1	0	0	0	0	0	0	0	1	9116	1693	59	4		4	LYN	8	56863330	Silent	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1491565	56863330	89500692	340	1765										
CHD7	55636	broad.mit.edu	37	chr8	61778453	61778454	+	Frame_Shift_Ins	INS	-	-	G													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aagagctagactcacttgatINSgggggggatgaaatagaaaa							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:61778453_61778454insG	ENST00000423902.2	+	38	9434_9435	c.8955_8956insG	c.(8956-8958)gggfs	p.G2986fs	CHD7_ENST00000524602.1_Frame_Shift_Ins_p.G937fs	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2986					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)			ACTCACTTGATGGGGGGGATGA	0.446																																						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	GRCh37	CI084262	CHD7	I		c.(8953-8958)gaggggfs		chromodomain helicase DNA binding protein 7																																				SO:0001589	frameshift_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61778453_61778454insG	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.8962dupG	8.37:g.61778460_61778460dupG	ENSP00000392028:p.Gly2986fs		Somatic				CHD7_ENST00000524602.1_Frame_Shift_Ins_p.EG936fs	p.EG2985fs	NM_017780.3	NP_060250.2	WXS	Illumina GAIIx	Phase_I	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		38	9434_9435	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2985					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Frame_Shift_Ins	INS	ENST00000423902.2	37	c.8955_8956insG	CCDS47865.1																																																																																				0.446	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		18	16						18	16	---	---	---	---	G	61778454	-	G	61778453	7	5	21	1	0	1	1	0	0	0	0	0	3332	1461	51	0	9101	0	CHD7	8	61778453	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	4915123	61778453	84585569	341	1766										
PREX2	80243	broad.mit.edu	37	chr8	69009342	69009342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caatgtccacctggaatatgGtgtcgtgtatgagtacgaca	11	8	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:69009342G>A	ENST00000288368.4	+	22	2736	c.2459G>A	c.(2458-2460)gGt>gAt	p.G820D	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	820					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.G820A(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						CTGGAATATGGTGTCGTGTAT	0.453																																						ENST00000288368.4																			2	Substitution - Missense(2)	p.G820A(2)	kidney(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.(2458-2460)gGt>gAt		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							186	158	168					8																	69009342		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.chr8:69009342G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2459G>A	8.37:g.69009342G>A	ENSP00000288368:p.Gly820Asp		Somatic				PREX2_ENST00000529398.1_3'UTR	p.G820D	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	WXS	Illumina GAIIx	Phase_I	Q70Z35	PREX2_HUMAN			22	2736	+			820					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.2459G>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486136	0.84854	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.67171	-0.25	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.82774	0.5110	M	0.72894	2.215	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	0.82476	-0.0438	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	820;820;820	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	D	820	ENSP00000288368:G820D	ENSP00000288368:G820D	G	+	2	0	PREX2	69171896	1.000000	0.71417	0.300000	0.25030	0.388000	0.30384	9.823000	0.99369	2.937000	0.99478	0.650000	0.86243	GGT		0.453	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		121	44	0	0	0	1	0	121	44					A	69009342	G	A	69009342	3	1	21	1	0	0	0	0	1	0	0	0	12489	1261	44	3	2545	3	PREX2	8	69009342	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	7230889	69009342	77354680	342	1767										
NCOA2	10499	broad.mit.edu	37	chr8	71056964	71056964	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggtatcactgagtagggacTactgtttctgattggtggga							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:71056964delT	ENST00000452400.2	-	13	2906	c.2725delA	c.(2725-2727)agtfs	p.S909fs	NCOA2_ENST00000267974.4_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	909					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)			GAGTAGGGACTACTGTTTCTG	0.468			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.(2725-2727)gtfs		nuclear receptor coactivator 2							198	183	188					8																	71056964		1920	4138	6058	SO:0001589	frameshift_variant	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71056964delT	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.2725delA	8.37:g.71056964delT	ENSP00000399968:p.Ser909fs		Somatic				NCOA2_ENST00000267974.4_Intron	p.S909fs	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)		13	2906	-	Breast(64;0.201)		909					Q14CD2	Frame_Shift_Del	DEL	ENST00000452400.2	37	c.2725delA	CCDS47872.1																																																																																				0.468	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			43	102						43	102	---	---	---	---	-	71056964	T	-	71056964	7	5	21	1	0	1	0	1	0	0	0	0	10238	1522	53	0	1713	0	NCOA2	8	71056964	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2047622	71056964	75307058	343	1768										
ZNF704	619279	broad.mit.edu	37	chr8	81553673	81553673	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atgtctcggttctccatcccGtacaccttccgacacttttt	5	15	2	0	rs548706663		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:81553673G>A	ENST00000327835.3	-	9	1398	c.1167C>T	c.(1165-1167)taC>taT	p.Y389Y		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	389							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)			TCTCCATCCCGTACACCTTCC	0.572																																						ENST00000327835.3																			0				lung(9)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1165-1167)taC>taT		zinc finger protein 704							89	68	75					8																	81553673		2203	4300	6503	SO:0001819	synonymous_variant	619279					intracellular	zinc ion binding	g.chr8:81553673G>A	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.1167C>T	8.37:g.81553673G>A			Somatic					p.Y389Y	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)		9	1398	-	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)		389					B2RNE6|B9EGW6	Silent	SNP	ENST00000327835.3	37	c.1167C>T	CCDS34913.1																																																																																				0.572	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		12	64	0	0	0	1	0	12	64					A	81553673	G	A	81553673	2	1	21	1	0	0	0	0	0	0	0	1	18122	1140	40	1		1	ZNF704	8	81553673	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	10496709	81553673	64810349	344	1769										
ATP6V0D2	245972	broad.mit.edu	37	chr8	87165043	87165043	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gttactttttttctttcctcAggtacaaatgaatgtgctgg	8	7	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:87165043A>G	ENST00000285393.3	+	8	1033		c.e8-1		CTD-3118D11.2_ENST00000524253.1_RNA|CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2						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						TTCTTTCCTCAGGTACAAATG	0.358																																						ENST00000285393.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						c.e8-1		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2							146	136	139					8																	87165043		2203	4300	6503	SO:0001630	splice_region_variant	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87165043A>G	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.892-1A>G	8.37:g.87165043A>G			Somatic				CTD-3118D11.2_ENST00000522679.1_RNA		NM_152565.1	NP_689778.1	WXS	Illumina GAIIx	Phase_I	Q8N8Y2	VA0D2_HUMAN			8	1033	+									Splice_Site	SNP	ENST00000285393.3	37		CCDS6241.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336399	0.60963	.	.	ENSG00000147614	ENST00000285393	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8056	0.78506	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP6V0D2	87234159	1.000000	0.71417	0.999000	0.59377	0.635000	0.38103	9.248000	0.95456	2.323000	0.78572	0.528000	0.53228	.		0.358	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565	Intron	106	68	0	0	0	1	0	106	68					G	87165043	A	G	87165043	5	3	21	1	0	0	0	0	0	0	1	0	1174	202	7	4	920	4	ATP6V0D2	8	87165043	Splice_Site	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	5611370	87165043	59198979	345	1770										
DCAF4L2	138009	broad.mit.edu	37	chr8	88885771	88885771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcaagtcccacgaagcacagCagaaggtgggaatccaagtg	13	10	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:88885771C>T	ENST00000319675.3	-	1	525	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	143								p.L143L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CGAAGCACAGCAGAAGGTGGG	0.562																																						ENST00000319675.3																			1	Substitution - coding silent(1)	p.L143L(1)	lung(1)	breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(427-429)ctG>ctA		DDB1 and CUL4 associated factor 4-like 2							94	89	91					8																	88885771		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88885771C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.429G>A	8.37:g.88885771C>T			Somatic					p.L143L	NM_152418.3	NP_689631.1	WXS	Illumina GAIIx	Phase_I	Q8NA75	DC4L2_HUMAN			1	525	-			143						Silent	SNP	ENST00000319675.3	37	c.429G>A	CCDS6245.1																																																																																				0.562	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		110	55	0	0	0	1	0	110	55					T	88885771	C	T	88885771	2	4	21	1	0	0	0	0	0	0	0	1	4274	697	25	3		3	DCAF4L2	8	88885771	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1720728	88885771	57478251	346	1771										
GEM	2669	broad.mit.edu	37	chr8	95264399	95264399	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctgtgattgagtagacaatcAggtatgcgtccccgacctgc	11	11	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:95264399A>G	ENST00000297596.2	-	4	725	c.461T>C	c.(460-462)cTg>cCg	p.L154P	GEM_ENST00000396194.2_Missense_Mutation_p.L154P	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	154					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTAGACAATCAGGTATGCGTC	0.517																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	ENST00000297596.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(460-462)cTg>cCg		GTP binding protein overexpressed in skeletal muscle							89	79	82					8																	95264399		2203	4300	6503	SO:0001583	missense	2669				cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	g.chr8:95264399A>G		CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"kinase-inducible Ras-like protein"	600164	"GTP-binding protein overexpressed in skeletal muscle"			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.461T>C	8.37:g.95264399A>G	ENSP00000297596:p.Leu154Pro		Somatic				GEM_ENST00000396194.2_Missense_Mutation_p.L154P	p.L154P	NM_005261.3	NP_005252.1	WXS	Illumina GAIIx	Phase_I	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		4	725	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	154					B2RA31	Missense_Mutation	SNP	ENST00000297596.2	37	c.461T>C	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.991091	0.93106	.	.	ENSG00000164949	ENST00000396194;ENST00000297596	D;D	0.83837	-1.77;-1.77	6.17	6.17	0.99709	Small GTP-binding protein domain (1);	0.073510	0.56097	D	0.000034	D	0.93032	0.7782	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.94251	0.7493	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	154	P55040	GEM_HUMAN	P	154	ENSP00000379497:L154P;ENSP00000297596:L154P	ENSP00000297596:L154P	L	-	2	0	GEM	95333575	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	CTG		0.517	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702		25	137	0	0	0	1	0	25	137					G	95264399	A	G	95264399	3	3	21	1	0	0	0	0	1	0	0	0	6337	188	7	4	437	4	GEM	8	95264399	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	6378628	95264399	51099623	347	1772										
RIMS2	9699	broad.mit.edu	37	chr8	104898136	104898136	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	accatagtcctcctacccccAggaggagtccactacccata	6	17	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:104898136A>G	ENST00000436393.2	+	2	884	c.643A>G	c.(643-645)Agg>Ggg	p.R215G	RIMS2_ENST00000406091.3_Missense_Mutation_p.R437G|RIMS2_ENST00000507740.1_Missense_Mutation_p.R245G|RIMS2_ENST00000262231.10_Missense_Mutation_p.R245G			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	468					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)			TCCTACCCCCAGGAGGAGTCC	0.468										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.(733-735)Agg>Ggg		regulating synaptic membrane exocytosis 2							85	80	82					8																	104898136		1919	4142	6061	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898136A>G	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.643A>G	8.37:g.104898136A>G	ENSP00000390665:p.Arg215Gly	HNSCC(12;0.0054)	Somatic				RIMS2_ENST00000436393.2_Missense_Mutation_p.R215G|RIMS2_ENST00000262231.10_Missense_Mutation_p.R245G|RIMS2_ENST00000406091.3_Missense_Mutation_p.R437G	p.R245G	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)		2	969	+			468					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.733A>G		.	.	.	.	.	.	.	.	.	.	A	15.65	2.896920	0.52121	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.19669	2.13;2.62;2.2;2.28;2.26;2.19;2.59	5.65	3.79	0.43588	.	.	.	.	.	T	0.34513	0.0900	L	0.46157	1.445	0.80722	D	1	P;P;P;D;D	0.67145	0.761;0.764;0.746;0.996;0.967	B;B;P;P;P	0.59424	0.346;0.248;0.548;0.857;0.817	T	0.04840	-1.0923	9	0.62326	D	0.03	.	13.8351	0.63404	0.5785:0.4215:0.0:0.0	.	468;215;245;245;437	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	G	437;468;437;468;245;245;245;245;215	ENSP00000427018:R437G;ENSP00000384892:R437G;ENSP00000425205:R245G;ENSP00000262231:R245G;ENSP00000423559:R245G;ENSP00000386228:R245G;ENSP00000390665:R215G	ENSP00000262231:R245G	R	+	1	2	RIMS2	104967312	0.702000	0.27816	0.950000	0.38849	0.858000	0.48976	2.119000	0.41958	0.678000	0.31325	-0.286000	0.09958	AGG		0.468	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		12	110	0	0	0	1	0	12	110					G	104898136	A	G	104898136	3	3	21	1	0	0	0	0	1	0	0	0	13383	179	7	4	1449	4	RIMS2	8	104898136	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	9633737	104898136	41465886	348	1773										
ZFPM2	23414	broad.mit.edu	37	chr8	106815052	106815052	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agctacgaaagaagcataatAaaatgtgagaaaaatgggaa							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:106815052delA	ENST00000407775.2	+	8	2992	c.2742delA	c.(2740-2742)atafs	p.I914fs	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Frame_Shift_Del_p.I645fs|ZFPM2_ENST00000517361.1_Frame_Shift_Del_p.I782fs|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Frame_Shift_Del_p.I782fs|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	914					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)			GAAGCATAATAAAATGTGAGA	0.453																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(2740-2742)atfs		zinc finger protein, FOG family member 2							40	39	39					8																	106815052		1888	4117	6005	SO:0001589	frameshift_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.chr8:106815052delA	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.2742delA	8.37:g.106815052delA	ENSP00000384179:p.Ile914fs		Somatic				ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Frame_Shift_Del_p.I782fs|ZFPM2_ENST00000517361.1_Frame_Shift_Del_p.I782fs|ZFPM2_ENST00000378472.4_Frame_Shift_Del_p.I645fs|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA	p.I914fs	NM_012082.3	NP_036214.2	WXS	Illumina GAIIx	Phase_I	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2992	+			914					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Frame_Shift_Del	DEL	ENST00000407775.2	37	c.2742delA	CCDS47908.1																																																																																				0.453	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			42	20						42	20	---	---	---	---	-	106815052	A	-	106815052	7	5	21	1	0	1	0	1	0	0	0	0	17673	352	13	0	2772	0	ZFPM2	8	106815052	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	1916916	106815052	39548970	349	1774										
SYBU	55638	broad.mit.edu	37	chr8	110587865	110587865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccctgtcagccccttcccccGtgacctgctcttccagagat	7	19	2	2	rs199889456	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:110587865G>A	ENST00000422135.1	-	8	1777	c.1262C>T	c.(1261-1263)aCg>aTg	p.T421M	SYBU_ENST00000533171.1_Missense_Mutation_p.T421M|SYBU_ENST00000529690.1_Missense_Mutation_p.T291M|SYBU_ENST00000533065.1_Missense_Mutation_p.T302M|SYBU_ENST00000440310.1_Missense_Mutation_p.T421M|SYBU_ENST00000533895.1_Missense_Mutation_p.T420M|SYBU_ENST00000408889.3_Missense_Mutation_p.T302M|SYBU_ENST00000528331.1_Missense_Mutation_p.T302M|SYBU_ENST00000399066.3_Missense_Mutation_p.T418M|SYBU_ENST00000276646.9_Missense_Mutation_p.T421M|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000424158.2_Missense_Mutation_p.T426M|SYBU_ENST00000408908.2_Missense_Mutation_p.T421M|SYBU_ENST00000532779.1_Missense_Mutation_p.T353M|SYBU_ENST00000528647.1_Missense_Mutation_p.T420M|SYBU_ENST00000529175.1_Missense_Mutation_p.T215M|SYBU_ENST00000419099.1_Missense_Mutation_p.T420M|SYBU_ENST00000433638.1_Missense_Mutation_p.T421M|SYBU_ENST00000446070.2_Missense_Mutation_p.T420M	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	421					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CCCTTCCCCCGTGACCTGCTC	0.522													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		18934	0		0	False		,,,				2504	0					ENST00000399066.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.(1252-1254)aCg>aTg		syntabulin (syntaxin-interacting)		G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	14,3930		0,14,1958	113	113	113		1259,1262,1262,905,1259,1262,905,1262,1259,1262,1259,1262,905,1253,1259	-1.6	0	8		113	0,8300		0,0,4150	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	SYBU	NM_001099743.1,NM_001099744.1,NM_001099745.1,NM_001099746.1,NM_001099747.1,NM_001099748.1,NM_001099749.1,NM_001099750.1,NM_001099751.1,NM_001099752.1,NM_001099753.1,NM_001099754.1,NM_001099755.1,NM_001099756.1,NM_017786.5	81,81,81,81,81,81,81,81,81,81,81,81,81,81,81	0,14,6108	AA,AG,GG		0.0,0.355,0.1143	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	420/663,421/664,421/664,302/545,420/663,421/664,302/545,421/664,420/663,421/664,420/663,421/664,302/545,418/661,420/663	110587865	14,12230	1972	4150	6122	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110587865G>A	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1262C>T	8.37:g.110587865G>A	ENSP00000407118:p.Thr421Met		Somatic				SYBU_ENST00000446070.2_Missense_Mutation_p.T420M|SYBU_ENST00000433638.1_Missense_Mutation_p.T421M|SYBU_ENST00000529175.1_Missense_Mutation_p.T215M|SYBU_ENST00000408908.2_Missense_Mutation_p.T421M|SYBU_ENST00000440310.1_Missense_Mutation_p.T421M|SYBU_ENST00000408889.3_Missense_Mutation_p.T302M|SYBU_ENST00000422135.1_Missense_Mutation_p.T421M|SYBU_ENST00000533895.1_Missense_Mutation_p.T420M|SYBU_ENST00000528647.1_Missense_Mutation_p.T420M|SYBU_ENST00000419099.1_Missense_Mutation_p.T420M|SYBU_ENST00000533171.1_Missense_Mutation_p.T421M|SYBU_ENST00000276646.9_Missense_Mutation_p.T421M|SYBU_ENST00000528331.1_Missense_Mutation_p.T302M|SYBU_ENST00000424158.2_Missense_Mutation_p.T426M|SYBU_ENST00000532779.1_Missense_Mutation_p.T353M|SYBU_ENST00000529690.1_Missense_Mutation_p.T291M|SYBU_ENST00000533065.1_Missense_Mutation_p.T302M	p.T418M	NM_001099756.1	NP_001093226.1	WXS	Illumina GAIIx	Phase_I	Q9NX95	SYBU_HUMAN			6	1980	-			421					A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.1253C>T	CCDS47912.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	4.110	0.018508	0.07959	0.00355	0.0	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.92	-1.56	0.08532	.	0.905228	0.09834	N	0.749777	T	0.25082	0.0609	L	0.36672	1.1	0.09310	N	1	B;B;P;B;B	0.41214	0.18;0.053;0.742;0.079;0.079	B;B;B;B;B	0.38880	0.023;0.006;0.284;0.014;0.014	T	0.18304	-1.0341	9	0.38643	T	0.18	0.4063	7.7195	0.28723	0.4645:0.1078:0.4276:0.0	.	291;353;420;421;418	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	M	420;426;353;418;420;302;215;421;420;421;420;421;421;421;302;302;291;421	.	ENSP00000276646:T421M	T	-	2	0	SYBU	110657041	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.162000	0.16501	-0.049000	0.13379	-1.320000	0.01293	ACG		0.522	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		22	113	0	0	0	1	0	22	113					A	110587865	G	A	110587865	3	1	21	1	0	0	0	0	1	0	0	0	15442	1145	40	1	733	1	SYBU	8	110587865	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3772813	110587865	35776157	350	1775										
DSCC1	79075	broad.mit.edu	37	chr8	120850597	120850597	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcaggtaaatcatctactttCagcaaaaatatgatttctgg	6	7	5	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:120850597C>T	ENST00000313655.4	-	8	1189	c.975G>A	c.(973-975)ctG>ctA	p.L325L		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	325					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)			CATCTACTTTCAGCAAAAATA	0.368																																						ENST00000313655.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9						c.(973-975)ctG>ctA		DNA replication and sister chromatid cohesion 1							111	113	112					8																	120850597		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.chr8:120850597C>T		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.975G>A	8.37:g.120850597C>T			Somatic					p.L325L	NM_024094.2	NP_076999.2	WXS	Illumina GAIIx	Phase_I	Q9BVC3	DCC1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		8	1189	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		325					Q969N5	Silent	SNP	ENST00000313655.4	37	c.975G>A	CCDS6330.1																																																																																				0.368	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094		45	150	0	0	0	1	0	45	150					T	120850597	C	T	120850597	2	4	21	1	0	0	0	0	0	0	0	1	4772	813	29	3		3	DSCC1	8	120850597	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	10262732	120850597	25513425	351	1776										
SNTB1	6641	broad.mit.edu	37	chr8	121561041	121561041	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gagttcagcagaattgtggcAaccctgtactatgctccttg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:121561041delA	ENST00000395601.3	-	6	1708	c.1294delT	c.(1294-1296)tgcfs	p.C432fs	SNTB1_ENST00000517992.1_Frame_Shift_Del_p.C432fs	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	432	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GAATTGTGGCAACCCTGTACT	0.507																																						ENST00000395601.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24						c.(1294-1296)gcfs		syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)							196	151	166					8																	121561041		2203	4300	6503	SO:0001589	frameshift_variant	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121561041delA	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.1294delT	8.37:g.121561041delA	ENSP00000378965:p.Cys432fs		Somatic				SNTB1_ENST00000517992.1_Frame_Shift_Del_p.C432fs	p.C432fs	NM_021021.3	NP_066301.1	WXS	Illumina GAIIx	Phase_I	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		6	1708	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		432			PH 2.		A8K9E0|O14912|Q4KMG8	Frame_Shift_Del	DEL	ENST00000395601.3	37	c.1294delT	CCDS6334.1																																																																																				0.507	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		8	112						8	112	---	---	---	---	-	121561041	A	-	121561041	7	5	21	1	0	1	0	1	0	0	0	0	14887	130	5	0	334	0	SNTB1	8	121561041	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	710444	121561041	24802981	352	1777										
ZHX1	11244	broad.mit.edu	37	chr8	124266662	124266662	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgtgtcactaaaccatttttTaatctctcctttcgtcaggc	5	11	3	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:124266662T>A	ENST00000522655.1	-	3	2065	c.1525A>T	c.(1525-1527)Aaa>Taa	p.K509*	ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000395571.3_Nonsense_Mutation_p.K509*|ZHX1_ENST00000297857.2_Nonsense_Mutation_p.K509*|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	509	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)			AACCATTTTTTAATCTCTCCT	0.348																																						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.(1525-1527)Aaa>Taa		zinc fingers and homeoboxes 1							119	122	121					8																	124266662		2203	4300	6503	SO:0001587	stop_gained	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.chr8:124266662T>A	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.1525A>T	8.37:g.124266662T>A	ENSP00000428821:p.Lys509*		Somatic				ZHX1_ENST00000297857.2_Nonsense_Mutation_p.K509*|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Nonsense_Mutation_p.K509*	p.K509*	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	2142	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		509			Required for interaction with NFYA.		Q8IWD8	Nonsense_Mutation	SNP	ENST00000522655.1	37	c.1525A>T	CCDS6342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	43|43	10.105237|10.105237	0.99337|0.99337	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655|ENST00000520474	.|.	.|.	.|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.103535|.	0.64402|.	D|.	0.000004|.	.|T	.|0.67192	.|0.2867	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71513	.|-0.4570	.|3	0.02654|.	T|.	1|.	-23.6888|-23.6888	15.2096|15.2096	0.73209|0.73209	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|F	509|193	.|.	ENSP00000297857:K509X|.	K|L	-|-	1|3	0|2	ZHX1|ZHX1	124335843|124335843	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.124000|6.124000	0.71620|0.71620	2.174000|2.174000	0.68829|0.68829	0.454000|0.454000	0.30748|0.30748	AAA|TTA		0.348	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			80	215	0	0	0	1	0	80	215					A	124266662	T	A	124266662	4	1	21	1	0	0	0	0	0	1	0	0	17690	1763	61	4	1100	4	ZHX1	8	124266662	Nonsense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2705621	124266662	22097360	353	1778										
ATAD2	29028	broad.mit.edu	37	chr8	124382144	124382144	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tctcttcttctccatcttctTcatcttcatcatcttcatca	0	15	12	0	rs150184958		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:124382144T>C	ENST00000287394.5	-	7	955	c.848A>G	c.(847-849)gAa>gGa	p.E283G	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	283	Asp-rich.				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)			tccatcttcttcatcttcatc	0.368																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(847-849)gAa>gGa		ATPase family, AAA domain containing 2		T	GLY/GLU	0,4406		0,0,2203	282	217	239		848	4.3	0.6	8	dbSNP_134	239	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ATAD2	NM_014109.3	98	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	benign	283/1391	124382144	3,13003	2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124382144T>C	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.848A>G	8.37:g.124382144T>C	ENSP00000287394:p.Glu283Gly		Somatic				ATAD2_ENST00000521903.1_5'UTR	p.E283G	NM_014109.3	NP_054828.2	WXS	Illumina GAIIx	Phase_I	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	955	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		283			Asp-rich.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.848A>G	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	T	8.882	0.951985	0.18431	0.0	3.49E-4	ENSG00000156802	ENST00000287394	T	0.08984	3.03	4.27	4.27	0.50696	.	1.535050	0.03153	N	0.168234	T	0.06735	0.0172	N	0.08118	0	0.80722	D	1	B;B	0.13145	0.006;0.007	B;B	0.11329	0.006;0.003	T	0.17806	-1.0357	10	0.31617	T	0.26	-0.3671	11.4367	0.50072	0.0:0.0:0.0:1.0	.	113;283	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	G	283	ENSP00000287394:E283G	ENSP00000287394:E283G	E	-	2	0	ATAD2	124451325	0.844000	0.29557	0.565000	0.28409	0.218000	0.24690	1.865000	0.39479	1.886000	0.54624	0.459000	0.35465	GAA		0.368	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		26	17	0	0	0	1	0	26	17					C	124382144	T	C	124382144	3	2	21	1	0	0	0	0	1	0	0	0	1071	1783	62	4	3412	4	ATAD2	8	124382144	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	115482	124382144	21981878	354	1779										
ATAD2	29028	broad.mit.edu	37	chr8	124382167	124382167	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcttcatcatcttcatcatcAtcatcatcatcatcatcgtc	1	14	12	0	rs149531312	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:124382167A>T	ENST00000287394.5	-	7	932	c.825T>A	c.(823-825)gaT>gaA	p.D275E	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	275	Asp-rich.				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)			cttcatcatcatcatcatcat	0.378													A|||	11	0.00219649	8e-04	0.0043	5008	,	,		17887	0.002		0.002	False		,,,				2504	0.0031					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.(823-825)gaT>gaA		ATPase family, AAA domain containing 2		A	GLU/ASP	10,4396	11.4+/-27.6	0,10,2193	257	196	216		825	-2.7	0.1	8	dbSNP_134	216	4,8596	3.7+/-12.6	0,4,4296	no	missense	ATAD2	NM_014109.3	45	0,14,6489	TT,TA,AA		0.0465,0.227,0.1076	benign	275/1391	124382167	14,12992	2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124382167A>T	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.825T>A	8.37:g.124382167A>T	ENSP00000287394:p.Asp275Glu		Somatic				ATAD2_ENST00000521903.1_5'UTR	p.D275E	NM_014109.3	NP_054828.2	WXS	Illumina GAIIx	Phase_I	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	932	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		275			Asp-rich.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.825T>A	CCDS6343.1	6	0.0027472527472527475	5	0.01016260162601626	0	0.0	1	0.0017482517482517483	0	0.0	A	0	-2.611228	0.00120	0.00227	4.65E-4	ENSG00000156802	ENST00000287394	T	0.25912	1.77	1.38	-2.69	0.06022	.	1.170220	0.05820	N	0.615542	T	0.08492	0.0211	L	0.29908	0.895	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.50398	-0.8833	10	0.02654	T	1	.	1.3801	0.02228	0.3901:0.0:0.2745:0.3354	.	105;275	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	E	275	ENSP00000287394:D275E	ENSP00000287394:D275E	D	-	3	2	ATAD2	124451348	0.985000	0.35326	0.093000	0.20910	0.064000	0.16182	-0.967000	0.03821	-0.205000	0.10219	0.402000	0.26972	GAT		0.378	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		17	18	0	0	0	1	0	17	18					T	124382167	A	T	124382167	3	4	21	1	0	0	0	0	1	0	0	0	1071	214	8	4	3435	4	ATAD2	8	124382167	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	23	124382167	21981855	355	1780										
FER1L6	654463	broad.mit.edu	37	chr8	125072512	125072512	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgccaacattcggccggtgcTgagcaaataccgagtggagg	14	10	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:125072512T>C	ENST00000522917.1	+	23	3172	c.2966T>C	c.(2965-2967)cTg>cCg	p.L989P	FER1L6_ENST00000399018.1_Missense_Mutation_p.L989P|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	989						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)			CGGCCGGTGCTGAGCAAATAC	0.587																																						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.(2965-2967)cTg>cCg		fer-1-like 6 (C. elegans)							83	91	89					8																	125072512		2203	4300	6503	SO:0001583	missense	654463					integral to membrane		g.chr8:125072512T>C	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.2966T>C	8.37:g.125072512T>C	ENSP00000428280:p.Leu989Pro		Somatic				FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.L989P	p.L989P	NM_001039112.2	NP_001034201.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		23	3172	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		989						Missense_Mutation	SNP	ENST00000522917.1	37	c.2966T>C	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.368883	0.82463	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81739	-1.53;-1.53	5.65	5.65	0.86999	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000009	D	0.91331	0.7266	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.93056	0.6470	10	0.87932	D	0	-8.6381	15.534	0.75986	0.0:0.0:0.0:1.0	.	989	Q2WGJ9	FR1L6_HUMAN	P	989	ENSP00000428280:L989P;ENSP00000381982:L989P	ENSP00000381982:L989P	L	+	2	0	FER1L6	125141693	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.528000	0.81941	2.163000	0.67991	0.533000	0.62120	CTG		0.587	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		118	54	0	0	0	1	0	118	54					C	125072512	T	C	125072512	3	2	21	1	0	0	0	0	1	0	0	0	5823	1580	55	4	3052	4	FER1L6	8	125072512	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	690345	125072512	21291510	356	1781										
SQLE	6713	broad.mit.edu	37	chr8	126011893	126011893	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggcttcttctgggccaaatCcccccctgaatcagaaaata							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:126011893delC	ENST00000265896.5	+	1	1146	c.248delC	c.(247-249)tccfs	p.S83fs	RP11-6D1.3_ENST00000523030.1_RNA|SQLE_ENST00000523430.1_Intron	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	83					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TGGGCCAAATCCCCCCCTGAA	0.547																																						ENST00000265896.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(247-249)tcfs		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						32	33	33					8																	126011893		1856	4117	5973	SO:0001589	frameshift_variant	6713				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	g.chr8:126011893delC	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"squalene monooxygenase"	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.248delC	8.37:g.126011893delC	ENSP00000265896:p.Ser83fs		Somatic				SQLE_ENST00000523430.1_Intron	p.S83fs	NM_003129.3	NP_003120.2	WXS	Illumina GAIIx	Phase_I	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		1	1146	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		83					Q9UEK6	Frame_Shift_Del	DEL	ENST00000265896.5	37	c.248delC	CCDS47918.1																																																																																				0.547	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129		38	31						38	31	---	---	---	---	-	126011893	C	-	126011893	7	5	21	1	0	1	0	1	0	0	0	0	15143	855	30	0	250	0	SQLE	8	126011893	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	939381	126011893	20352129	357	1782										
MYC	4609	broad.mit.edu	37	chr8	128750639	128750639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gagcgagctgcagcccccggCgcccagcgaggatatctgga	15	14	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:128750639C>T	ENST00000259523.6	+	2	1336	c.131C>T	c.(130-132)gCg>gTg	p.A44V	MYC_ENST00000377970.2_Missense_Mutation_p.A59V|MYC_ENST00000524013.1_Missense_Mutation_p.A58V			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	44					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	CAGCCCCCGGCGCCCAGCGAG	0.637	A59V(RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A59V(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377970.2	A59V(RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A59V(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	3		Dom	yes		8	8q24.12-q24.13	4609	"A, T"	v-myc myelocytomatosis viral oncogene homolog (avian)			"L, E"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"		"Burkitt lymphoma,  amplified in other cancers, B-CLL"		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(175-177)gCg>gTg		v-myc avian myelocytomatosis viral oncogene homolog							29	33	32					8																	128750639		2203	4300	6503	SO:0001583	missense	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128750639C>T		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.131C>T	8.37:g.128750639C>T	ENSP00000259523:p.Ala44Val		Somatic	OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_ENST00000259523.6_Missense_Mutation_p.A44V|MYC_ENST00000524013.1_Missense_Mutation_p.A58V	p.A59V	NM_002467.4	NP_002458.2	WXS	Illumina GAIIx	Phase_I	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	2	686	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	44		P -> A (in a Burkitt lymphoma sample).			A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000259523.6	37	c.176C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.26|14.26	2.482034|2.482034	0.44147|0.44147	.|.	.|.	ENSG00000136997|ENSG00000136997	ENST00000259523;ENST00000517291;ENST00000377970;ENST00000524013|ENST00000520751	T;T;T;T|.	0.26957|.	1.7;1.7;1.7;1.7|.	4.78|4.78	4.78|4.78	0.61160|0.61160	Transcription regulator Myc, N-terminal (1);|.	0.099217|.	0.64402|.	D|.	0.000001|.	T|T	0.79381|0.79381	0.4436|0.4436	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	T|T	0.82888|0.82888	-0.0234|-0.0234	10|6	0.72032|0.87932	D|D	0.01|0	-24.1944|-24.1944	17.3275|17.3275	0.87253|0.87253	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	44|.	P01106|.	MYC_HUMAN|.	V|C	44;58;59;58|33	ENSP00000259523:A44V;ENSP00000429441:A58V;ENSP00000367207:A59V;ENSP00000430235:A58V|.	ENSP00000259523:A44V|ENSP00000430226:R33C	A|R	+|+	2|1	0|0	MYC|MYC	128819821|128819821	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.794000|5.794000	0.69067|0.69067	2.654000|2.654000	0.90174|0.90174	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.637	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			88	35	0	0	0	1	0	88	35					T	128750639	C	T	128750639	3	4	21	1	0	0	0	0	1	0	0	0	10025	768	27	1	182	1	MYC	8	128750639	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2738746	128750639	17613383	358	1783										
TG	7038	broad.mit.edu	37	chr8	133910007	133910007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atgcgtttggaagttgggagCctgtgcagtgccacgctggg	17	8	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:133910007C>T	ENST00000220616.4	+	12	3155	c.3115C>T	c.(3115-3117)Cct>Tct	p.P1039S	TG_ENST00000377869.1_Missense_Mutation_p.P1039S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1039	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)		AAGTTGGGAGCCTGTGCAGTG	0.597																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(3115-3117)Cct>Tct		thyroglobulin							59	58	58					8																	133910007		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133910007C>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.3115C>T	8.37:g.133910007C>T	ENSP00000220616:p.Pro1039Ser		Somatic				TG_ENST00000377869.1_Missense_Mutation_p.P1039S	p.P1039S	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	3155	+	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)	1039			Thyroglobulin type-1 8.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.3115C>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764825	0.69878	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.67171	-0.25;-0.25	5.59	5.59	0.84812	Thyroglobulin type-1 (6);	0.956231	0.08701	N	0.906361	D	0.82651	0.5083	M	0.64404	1.975	0.49130	D	0.999756	D	0.89917	1.0	D	0.97110	1.0	T	0.78079	-0.2344	10	0.87932	D	0	.	18.5726	0.91142	0.0:1.0:0.0:0.0	.	1039	P01266	THYG_HUMAN	S	1039	ENSP00000367100:P1039S;ENSP00000220616:P1039S	ENSP00000220616:P1039S	P	+	1	0	TG	133979189	1.000000	0.71417	0.995000	0.50966	0.241000	0.25554	5.960000	0.70348	2.619000	0.88677	0.655000	0.94253	CCT		0.597	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		36	111	0	0	0	1	0	36	111					T	133910007	C	T	133910007	3	4	21	1	0	0	0	0	1	0	0	0	15828	739	26	3	3161	3	TG	8	133910007	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	5159368	133910007	12454015	359	1784										
TG	7038	broad.mit.edu	37	chr8	133923762	133923762	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atcccagtggcttctcttccTgacttacatgacattggtat	7	11	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:133923762T>C	ENST00000220616.4	+	19	4183	c.4143T>C	c.(4141-4143)ccT>ccC	p.P1381P	TG_ENST00000377869.1_Silent_p.P1381P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1381					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)		CTTCTCTTCCTGACTTACATG	0.473																																						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.(4141-4143)ccT>ccC		thyroglobulin							192	172	178					8																	133923762		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133923762T>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.4143T>C	8.37:g.133923762T>C			Somatic				TG_ENST00000377869.1_Silent_p.P1381P	p.P1381P	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)	19	4183	+	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)	1381					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.4143T>C	CCDS34944.1																																																																																				0.473	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		57	148	0	0	0	1	0	57	148					C	133923762	T	C	133923762	2	2	21	1	0	0	0	0	0	0	0	1	15828	1567	55	4		4	TG	8	133923762	Silent	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	13755	133923762	12440260	360	1785										
FAM135B	51059	broad.mit.edu	37	chr8	139189663	139189663	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggcctcagaaaaccttcggaCctgcagaataaaacaatgta	8	10	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:139189663C>T	ENST00000395297.1	-	11	1200	c.1030G>A	c.(1030-1032)Gtc>Atc	p.V344I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	344										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)			AACCTTCGGACCTGCAGAATA	0.373										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.e11-1		family with sequence similarity 135, member B							86	79	81					8																	139189663		1868	4102	5970	SO:0001630	splice_region_variant	51059							g.chr8:139189663C>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.1030-1G>A	8.37:g.139189663C>T		HNSCC(54;0.14)	Somatic					p.V344_splice	NM_015912.3	NP_056996.2	WXS	Illumina GAIIx	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		11	1200	-	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)		344					B5MDB3|O95879|Q2WGJ7|Q3KP46	Splice_Site	SNP	ENST00000395297.1	37	c.1029_splice	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873256	0.72180	.	.	ENSG00000147724	ENST00000395297	T	0.19669	2.13	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	T	0.47322	0.1439	M	0.73598	2.24	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.39375	-0.9617	10	0.49607	T	0.09	-19.2075	16.1375	0.81497	0.0:1.0:0.0:0.0	.	344	Q49AJ0	F135B_HUMAN	I	344	ENSP00000378710:V344I	ENSP00000276737:V344I	V	-	1	0	FAM135B	139258845	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.307000	0.78920	2.674000	0.91012	0.563000	0.77884	GTC		0.373	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	Missense_Mutation	13	26	0	0	0	1	0	13	26					T	139189663	C	T	139189663	5	4	21	1	0	0	0	0	0	0	1	0	5454	521	18	3	3230	3	FAM135B	8	139189663	Splice_Site	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	5265901	139189663	7174359	361	1786										
DENND3	22898	broad.mit.edu	37	chr8	142148219	142148219	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cctatggcgtggtggcccagTactaccggcccctgcatgta	12	14	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:142148219T>C	ENST00000262585.2	+	3	522	c.244T>C	c.(244-246)Tac>Cac	p.Y82H	DENND3_ENST00000424248.1_Missense_Mutation_p.Y82H|DENND3_ENST00000518347.1_Missense_Mutation_p.Y162H|DENND3_ENST00000519811.1_Missense_Mutation_p.Y162H	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	82	UDENN.				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)			GGTGGCCCAGTACTACCGGCC	0.512																																						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.(484-486)Tac>Cac		DENN/MADD domain containing 3							117	83	94					8																	142148219		2203	4299	6502	SO:0001583	missense	22898							g.chr8:142148219T>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.244T>C	8.37:g.142148219T>C	ENSP00000262585:p.Tyr82His		Somatic				DENND3_ENST00000518347.1_Missense_Mutation_p.Y162H|DENND3_ENST00000262585.2_Missense_Mutation_p.Y82H|DENND3_ENST00000424248.1_Missense_Mutation_p.Y82H	p.Y162H			WXS	Illumina GAIIx	Phase_I	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		3	554	+	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)		82			DENN.		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.484T>C	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.172518|4.172518	0.78452|0.78452	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058	.|T;T;T;T;T	.|0.55413	.|2.85;2.48;2.83;1.14;0.52	5.29|5.29	5.29|5.29	0.74685|0.74685	.|uDENN (2);	.|0.328412	.|0.35096	.|N	.|0.003455	T|T	0.71600|0.71600	0.3359|0.3359	M|M	0.71581|0.71581	2.175|2.175	0.41483|0.41483	D|D	0.988171|0.988171	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.91635	.|0.995;0.995;0.969;0.999	T|T	0.76002|0.76002	-0.3118|-0.3118	5|10	.|0.87932	.|D	.|0	-17.4957|-17.4957	15.208|15.208	0.73195|0.73195	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|162;82;162;162	.|E9PF32;A2RUS2;E5RHH2;E5RIR7	.|.;DEND3_HUMAN;.;.	A|H	138|95;162;82;82;162;162;162	.|ENSP00000262585:Y82H;ENSP00000410594:Y82H;ENSP00000428714:Y162H;ENSP00000429780:Y162H;ENSP00000430786:Y162H	.|ENSP00000262585:Y82H	V|Y	+|+	2|1	0|0	DENND3|DENND3	142217401|142217401	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	6.048000|6.048000	0.71046|0.71046	1.975000|1.975000	0.57531|0.57531	0.528000|0.528000	0.53228|0.53228	GTA|TAC		0.512	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		4	30	0	0	0	1	0	4	30					C	142148219	T	C	142148219	3	2	21	1	0	0	0	0	1	0	0	0	4434	1638	57	4	250	4	DENND3	8	142148219	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2958556	142148219	4215803	362	1787										
C8orf73	642475	broad.mit.edu	37	chr8	144649983	144649983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cacggcggctgcccggcgcaGggggtcctgtggactccgca	17	15	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144649983G>A	ENST00000398882.3	-	12	2096	c.1840C>T	c.(1840-1842)Ctg>Ttg	p.L614L	MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000532704.1_5'UTR	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	614																	GCCCGGCGCAGGGGGTCCTGT	0.701																																						ENST00000398882.3																			0											c.(1840-1842)Ctg>Ttg		maestro heat-like repeat family member 6							22	28	26					8																	144649983		1954	4126	6080	SO:0001819	synonymous_variant	642475							g.chr8:144649983G>A	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1840C>T	8.37:g.144649983G>A			Somatic				MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000532704.1_5'UTR	p.L614L	NM_001100878.1	NP_001094348.1	WXS	Illumina GAIIx	Phase_I					12	2096	-								A8MWB1	Silent	SNP	ENST00000398882.3	37	c.1840C>T	CCDS47928.1																																																																																				0.701	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		14	45	0	0	0	1	0	14	45					A	144649983	G	A	144649983	2	1	21	1	0	0	0	0	0	0	0	1	2437	991	35	3		3	C8orf73	8	144649983	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2501764	144649983	1714039	363	1788										
MAPK15	225689	broad.mit.edu	37	chr8	144800992	144800992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agggcggcctgctgcaggacGtccacgtgcgctccatcttc	13	15	1	0	rs371795375		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144800992G>A	ENST00000338033.4	+	5	453	c.334G>A	c.(334-336)Gtc>Atc	p.V112I	MAPK15_ENST00000395108.2_Missense_Mutation_p.V112I|RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395107.4_Missense_Mutation_p.V129I	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	112	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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)			GCTGCAGGACGTCCACGTGCG	0.692																																						ENST00000338033.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12						c.(334-336)Gtc>Atc		mitogen-activated protein kinase 15			ILE/VAL	0,4406		0,0,2203	23	26	25		334	-5	0	8		25	1,8597	1.2+/-3.3	0,1,4298	no	missense	MAPK15	NM_139021.2	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	112/545	144800992	1,13003	2203	4299	6502	SO:0001583	missense	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144800992G>A	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.334G>A	8.37:g.144800992G>A	ENSP00000337691:p.Val112Ile		Somatic				RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Missense_Mutation_p.V112I|MAPK15_ENST00000395107.4_Missense_Mutation_p.V129I	p.V112I	NM_139021.2	NP_620590.2	WXS	Illumina GAIIx	Phase_I	Q8TD08	MK15_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	453	+	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)		112			Protein kinase.		Q2TCF9|Q8N362	Missense_Mutation	SNP	ENST00000338033.4	37	c.334G>A	CCDS6409.2	.	.	.	.	.	.	.	.	.	.	g	3.753	-0.051281	0.07407	0.0	1.16E-4	ENSG00000181085	ENST00000338033;ENST00000395107;ENST00000395108	T;T;T	0.65364	-0.15;-0.15;-0.15	4.26	-5.01	0.02991	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.177441	0.48286	N	0.000197	T	0.25344	0.0616	N	0.02111	-0.68	0.20196	N	0.999924	B	0.13594	0.008	B	0.18263	0.021	T	0.34030	-0.9845	10	0.02654	T	1	.	13.3962	0.60853	0.7688:0.0:0.2312:0.0	.	112	Q8TD08	MK15_HUMAN	I	112;129;112	ENSP00000337691:V112I;ENSP00000378539:V129I;ENSP00000378540:V112I	ENSP00000337691:V112I	V	+	1	0	MAPK15	144872980	0.001000	0.12720	0.006000	0.13384	0.153000	0.21895	0.302000	0.19192	-1.021000	0.03350	-0.478000	0.04885	GTC		0.692	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		14	33	0	0	0	1	0	14	33					A	144800992	G	A	144800992	3	1	21	1	0	0	0	0	1	0	0	0	9286	1145	40	1	352	1	MAPK15	8	144800992	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	151009	144800992	1563030	364	1789										
EPPK1	83481	broad.mit.edu	37	chr8	144945055	144945055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggaggtacaggcccgtctcGgggtcacgcacacagcgctc	14	14	2	0	rs200117350	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144945055G>A	ENST00000525985.1	-	2	2438	c.2367C>T	c.(2365-2367)ccC>ccT	p.P789P				P58107	EPIPL_HUMAN	epiplakin 1	789						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)			GGCCCGTCTCGGGGTCACGCA	0.627																																						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.(2365-2367)ccC>ccT		epiplakin 1							59	70	66					8																	144945055		2121	4225	6346	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945055G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2367C>T	8.37:g.144945055G>A			Somatic					p.P789P			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	2438	-	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)		789					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.2367C>T																																																																																					0.627	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		48	142	0	0	0	1	0	48	142					A	144945055	G	A	144945055	2	1	21	1	0	0	0	0	0	0	0	1	5192	1103	39	1		1	EPPK1	8	144945055	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	144063	144945055	1418967	365	1790										
EPPK1	83481	broad.mit.edu	37	chr8	144947314	144947314	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atgctcctggcctggggcctGgggggcgtgccggctcccag							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144947314delG	ENST00000525985.1	-	2	179	c.108delC	c.(106-108)cccfs	p.P36fs				P58107	EPIPL_HUMAN	epiplakin 1	36						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)			CCTGGGGCCTGGGGGGCGTGC	0.697																																						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.(106-108)ccfs		epiplakin 1							20	27	25					8																	144947314		2091	4214	6305	SO:0001589	frameshift_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144947314delG	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.108delC	8.37:g.144947314delG	ENSP00000436337:p.Pro36fs		Somatic					p.P36fs			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	179	-	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)		36					Q76E58|Q9NSU9	Frame_Shift_Del	DEL	ENST00000525985.1	37	c.108delC																																																																																					0.697	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		38	123						38	123	---	---	---	---	-	144947314	G	-	144947314	7	5	21	1	0	1	0	1	0	0	0	0	5192	1335	47	0	7158	0	EPPK1	8	144947314	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2259	144947314	1416708	366	1791										
PLEC	5339	broad.mit.edu	37	chr8	144997961	144997961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cttctcttccgcctgcagccGcttctgggcggcctcctggg	12	17	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144997961G>A	ENST00000322810.4	-	31	6716	c.6547C>T	c.(6547-6549)Cgg>Tgg	p.R2183W	PLEC_ENST00000354589.3_Missense_Mutation_p.R2046W|PLEC_ENST00000356346.3_Missense_Mutation_p.R2032W|PLEC_ENST00000398774.2_Missense_Mutation_p.R2014W|PLEC_ENST00000436759.2_Missense_Mutation_p.R2073W|PLEC_ENST00000357649.2_Missense_Mutation_p.R2050W|PLEC_ENST00000345136.3_Missense_Mutation_p.R2046W|PLEC_ENST00000354958.2_Missense_Mutation_p.R2024W|PLEC_ENST00000527096.1_Missense_Mutation_p.R2069W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2183	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTGCAGCCGCTTCTGGGCG	0.701																																						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.(6547-6549)Cgg>Tgg		plectin							4	5	4					8																	144997961		1774	3656	5430	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.chr8:144997961G>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.6547C>T	8.37:g.144997961G>A	ENSP00000323856:p.Arg2183Trp		Somatic				PLEC_ENST00000356346.3_Missense_Mutation_p.R2032W|PLEC_ENST00000354589.3_Missense_Mutation_p.R2046W|PLEC_ENST00000398774.2_Missense_Mutation_p.R2014W|PLEC_ENST00000436759.2_Missense_Mutation_p.R2073W|PLEC_ENST00000527096.1_Missense_Mutation_p.R2069W|PLEC_ENST00000357649.2_Missense_Mutation_p.R2050W|PLEC_ENST00000345136.3_Missense_Mutation_p.R2046W|PLEC_ENST00000354958.2_Missense_Mutation_p.R2024W	p.R2183W	NM_201380.2	NP_958782.1	WXS	Illumina GAIIx	Phase_I	Q15149	PLEC_HUMAN			31	6716	-			2183			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.6547C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	8.363	0.833532	0.16820	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.80566	-1.36;-1.36;-1.37;-1.37;-1.38;-1.36;-1.33;-1.39;-1.33	4.31	4.31	0.51392	.	0.093595	0.45361	U	0.000362	T	0.79482	0.4453	N	0.22421	0.69	0.35419	D	0.793075	D;D;D;D;D;D;D;D	0.71674	0.998;0.998;0.998;0.997;0.998;0.998;0.998;0.998	P;P;P;P;P;P;P;P	0.59546	0.859;0.859;0.859;0.727;0.859;0.859;0.859;0.859	D	0.85048	0.0927	10	0.62326	D	0.03	.	11.9449	0.52922	0.0:0.0:0.8257:0.1742	.	2073;2032;2024;2183;2014;2046;2050;2046	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	W	2046;2050;2046;2014;2183;2024;2032;2073;2069	ENSP00000344848:R2046W;ENSP00000350277:R2050W;ENSP00000346602:R2046W;ENSP00000381756:R2014W;ENSP00000323856:R2183W;ENSP00000347044:R2024W;ENSP00000348702:R2032W;ENSP00000388180:R2073W;ENSP00000434583:R2069W	ENSP00000323856:R2183W	R	-	1	2	PLEC	145069949	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	1.811000	0.38942	2.112000	0.64535	0.448000	0.29417	CGG		0.701	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		5	19	0	0	0	1	0	5	19					A	144997961	G	A	144997961	3	1	21	1	0	0	0	0	1	0	0	0	12061	1086	38	1	7515	1	PLEC	8	144997961	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	50647	144997961	1366061	367	1792										
KIAA1432	57589	broad.mit.edu	37	chr9	5774180	5774180	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atggtcagccggaaagaggaGgacacagcccaagcagagga	15	9	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:5774180G>T	ENST00000414202.2	+	26	4397	c.4206G>T	c.(4204-4206)gaG>gaT	p.E1402D	KIAA1432_ENST00000449720.2_Missense_Mutation_p.E1286D|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E1323D	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GGAAAGAGGAGGACACAGCCC	0.547																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(4204-4206)gaG>gaT		KIAA1432							83	72	76					9																	5774180		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5774180G>T																												ENST00000414202.2:c.4206G>T	9.37:g.5774180G>T	ENSP00000416696:p.Glu1402Asp		Somatic				KIAA1432_ENST00000449720.2_Missense_Mutation_p.E1286D|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E1323D	p.E1402D	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	WXS	Illumina GAIIx	Phase_I	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	26	4397	+		Acute lymphoblastic leukemia(23;0.154)	1402						Missense_Mutation	SNP	ENST00000414202.2	37	c.4206G>T	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.06|12.06	1.823691|1.823691	0.32237|0.32237	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000414202;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	5.7|5.7	2.6|2.6	0.31112|0.31112	.|.	0.208574|.	0.49916|.	N|.	0.000128|.	T|.	0.49660|.	0.1570|.	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|.	0.36114|.	-0.9761|.	9|.	0.13470|.	T|.	0.59|.	-11.4343|-11.4343	12.5851|12.5851	0.56412|0.56412	0.0666:0.2364:0.697:0.0|0.0666:0.2364:0.697:0.0	.|.	1286;1402|.	B7ZM67;Q4ADV7|.	.;RIC1_HUMAN|.	D|X	1402;1323;1286|1294	.|.	ENSP00000416696:E1402D|.	E|G	+|+	3|1	2|0	KIAA1432|KIAA1432	5764180|5764180	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	1.088000|1.088000	0.30877|0.30877	0.738000|0.738000	0.32606|0.32606	0.462000|0.462000	0.41574|0.41574	GAG|GGA		0.547	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			32	50	1	0	1.99505e-19	1	2.19531e-19	32	50					T	5774180	G	T	5774180	3	4	21	1	0	0	0	0	1	0	0	0	8242	991	35	5	4141	5	KIAA1432	9	5774180	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08		5774180	135439251	368	1793										
PTPRD	5789	broad.mit.edu	37	chr9	8521547	8521547	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcttggtgggacacggcgaaCtggaacaaaacacaagggaa	13	8	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:8521547C>T	ENST00000381196.4	-	17	1235		c.e17-1		PTPRD_ENST00000356435.5_Splice_Site|PTPRD_ENST00000397606.3_Splice_Site|PTPRD_ENST00000397611.3_Splice_Site|PTPRD_ENST00000537002.1_Splice_Site|PTPRD_ENST00000360074.4_Splice_Site|PTPRD_ENST00000358503.5_Splice_Site|PTPRD_ENST00000355233.5_Splice_Site|PTPRD_ENST00000486161.1_Splice_Site|PTPRD_ENST00000397617.3_Splice_Site|PTPRD_ENST00000540109.1_Splice_Site	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D						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)		ACACGGCGAACTGGAACAAAA	0.438										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.e17-1		protein tyrosine phosphatase, receptor type, D							87	74	79					9																	8521547		2203	4300	6503	SO:0001630	splice_region_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8521547C>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.692-1G>A	9.37:g.8521547C>T		TSP Lung(15;0.13)	Somatic				PTPRD_ENST00000486161.1_Splice_Site|PTPRD_ENST00000356435.5_Splice_Site|PTPRD_ENST00000355233.5_Splice_Site|PTPRD_ENST00000397606.3_Splice_Site|PTPRD_ENST00000397611.3_Splice_Site|PTPRD_ENST00000397617.3_Splice_Site|PTPRD_ENST00000540109.1_Splice_Site|PTPRD_ENST00000360074.4_Splice_Site|PTPRD_ENST00000537002.1_Splice_Site|PTPRD_ENST00000358503.5_Splice_Site		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)	17	1235	-		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)						B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Splice_Site	SNP	ENST00000381196.4	37		CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790820	0.90367	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7917	0.96461	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRD	8511547	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.770000	0.85390	2.688000	0.91661	0.563000	0.77884	.		0.438	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		Intron	34	45	0	0	0	1	0	34	45					T	8521547	C	T	8521547	5	4	21	1	0	0	0	0	0	0	1	0	12814	579	20	3	5223	3	PTPRD	9	8521547	Splice_Site	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2747367	8521547	132691884	369	1794										
TYRP1	7306	broad.mit.edu	37	chr9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctcctttttattccaactctAcaaacagtttccgaaacaca					rs387906562|rs369807922		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.TN352fs	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	352					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)	p.N353fs*31(2)		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)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism																													ENST00000388918.5																			2	Deletion - Frameshift(2)	p.N353fs*31(2)	NS(1)|lung(1)	NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22	GRCh37	CD085016	TYRP1	D		c.(1054-1059)acfs		tyrosinase-related protein 1																																				SO:0001589	frameshift_variant	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.chr9:12702411_12702414delACAA	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.1054_1057delACAA	9.37:g.12702411_12702414delACAA	ENSP00000373570:p.Thr352fs		Somatic				TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|RP11-3L8.3_ENST00000417638.1_RNA	p.TN352fs	NM_000550.2	NP_000541.1	WXS	Illumina GAIIx	Phase_I	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	5	1183_1186	+		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)	352					P78468|P78469|Q13721|Q15679	Frame_Shift_Del	DEL	ENST00000388918.5	37	c.1054_1057delACAA	CCDS34990.1																																																																																				0.387	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		14	24						14	24	---	---	---	---	-	12702414	ACAA	-	12702411	7	5	21	1	0	1	0	1	0	0	0	0	16831	391	14	0	1068	0	TYRP1	9	12702411	Frame_Shift_Del	DEL	ACAA	TCGA-N7-A4Y0-01A-12D-A28R-08	4180864	12702411	128511020	370	1795										
ADAMTSL1	92949	broad.mit.edu	37	chr9	18829843	18829843	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccctctgccttctcacagatCccccccaagtccccacacag							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:18829843delC	ENST00000380548.4	+	23	4456	c.4117delC	c.(4117-4119)cccfs	p.P1374fs	ADAMTSL1_ENST00000380545.5_Frame_Shift_Del_p.P75fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1374						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)		TCTCACAGATCCCCCCCAAGT	0.567																																						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.(4117-4119)ccfs		ADAMTS-like 1							92	95	94					9																	18829843		2066	4195	6261	SO:0001589	frameshift_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18829843delC	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.4117delC	9.37:g.18829843delC	ENSP00000369921:p.Pro1374fs		Somatic				ADAMTSL1_ENST00000380545.5_Frame_Shift_Del_p.P75fs	p.P1374fs	NM_001040272.5	NP_001035362.3	WXS	Illumina GAIIx	Phase_I	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	23	4456	+			1374					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Frame_Shift_Del	DEL	ENST00000380548.4	37	c.4117delC	CCDS47954.1																																																																																				0.567	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			36	51						36	51	---	---	---	---	-	18829843	C	-	18829843	7	5	21	1	0	1	0	1	0	0	0	0	274	855	30	0	4211	0	ADAMTSL1	9	18829843	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	6127432	18829843	122383588	371	1796										
KIAA1797	54914	broad.mit.edu	37	chr9	20758097	20758097	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgtgtctttcagaaatcatcCtcatcctttgataactgtgc	6	10	4	2	rs143814736	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:20758097C>A	ENST00000380249.1	+	8	765	c.401C>A	c.(400-402)cCt>cAt	p.P134H	FOCAD_ENST00000338382.6_Missense_Mutation_p.P134H	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	134						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AGAAATCATCCTCATCCTTTG	0.433																																						ENST00000380249.1																			0											c.(400-402)cCt>cAt		focadhesin							112	100	104					9																	20758097		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20758097C>A	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.401C>A	9.37:g.20758097C>A	ENSP00000369599:p.Pro134His		Somatic				FOCAD_ENST00000338382.6_Missense_Mutation_p.P134H	p.P134H	NM_017794.3	NP_060264.3	WXS	Illumina GAIIx	Phase_I	Q5VW36	K1797_HUMAN			8	765	+			134					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.401C>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145877	0.57044	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.22336	1.96;1.96	5.37	4.38	0.52667	Domain of unknown function DUF3730 (1);	0.053540	0.85682	D	0.000000	T	0.18718	0.0449	N	0.24115	0.695	0.53688	D	0.999976	B	0.33477	0.413	B	0.38616	0.277	T	0.07635	-1.0762	10	0.54805	T	0.06	-0.404	14.8219	0.70080	0.1533:0.8467:0.0:0.0	.	134	Q5VW36	K1797_HUMAN	H	134	ENSP00000369599:P134H;ENSP00000344307:P134H	ENSP00000344307:P134H	P	+	2	0	KIAA1797	20748097	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.629000	0.54266	2.521000	0.84997	0.555000	0.69702	CCT		0.433	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		16	22	1	0	1.15088e-07	1	1.20157e-07	16	22					A	20758097	C	A	20758097	3	1	21	1	0	0	0	0	1	0	0	0	8267	681	24	5	419	5	KIAA1797	9	20758097	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1928254	20758097	120455334	372	1797										
IFNW1	3467	broad.mit.edu	37	chr9	21141170	21141170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgcagggctgctaattgcccCagcagattctccttctccca	8	15	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:21141170C>T	ENST00000380229.2	-	1	974	c.400G>A	c.(400-402)Ggg>Agg	p.G134R		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	134					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTAATTGCCCCAGCAGATTCT	0.527																																						ENST00000380229.2																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)	5						c.(400-402)Ggg>Agg		interferon, omega 1							83	77	79					9																	21141170		2203	4300	6503	SO:0001583	missense	3467				cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21141170C>T		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"Interferons"	5448	protein-coding gene	gene with protein product	"IFN-omega 1, interferon omega-1"	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.400G>A	9.37:g.21141170C>T	ENSP00000369578:p.Gly134Arg		Somatic					p.G134R	NM_002177.1	NP_002168.1	WXS	Illumina GAIIx	Phase_I	P05000	IFNW1_HUMAN		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	974	-			134					Q13168|Q5U802|Q5VWD0|Q7M4P5	Missense_Mutation	SNP	ENST00000380229.2	37	c.400G>A	CCDS6496.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.376956	0.42105	.	.	ENSG00000177047	ENST00000380229	T	0.03181	4.02	4.53	0.242	0.15498	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.673470	0.03718	N	0.251390	T	0.03608	0.0103	N	0.14661	0.345	0.09310	N	1	P	0.40534	0.72	B	0.43478	0.421	T	0.33007	-0.9885	10	0.87932	D	0	.	3.7502	0.08563	0.3558:0.2231:0.4211:0.0	.	134	P05000	IFNW1_HUMAN	R	134	ENSP00000369578:G134R	ENSP00000369578:G134R	G	-	1	0	IFNW1	21131170	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.279000	0.18771	0.159000	0.19401	0.460000	0.39030	GGG		0.527	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177		33	44	0	0	0	1	0	33	44					T	21141170	C	T	21141170	3	4	21	1	0	0	0	0	1	0	0	0	7561	594	21	3	191	3	IFNW1	9	21141170	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	383073	21141170	120072261	373	1798										
IFNW1	3467	broad.mit.edu	37	chr9	21141286	21141286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgttccaggcagcagaggagCgctctgtgtggaagaggctg	17	8	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:21141286C>T	ENST00000380229.2	-	1	858	c.284G>A	c.(283-285)cGc>cAc	p.R95H		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	95			R -> S (in dbSNP:rs2230055).		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGCAGAGGAGCGCTCTGTGTG	0.557																																						ENST00000380229.2																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)	5						c.(283-285)cGc>cAc		interferon, omega 1							89	86	87					9																	21141286		2203	4300	6503	SO:0001583	missense	3467				cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21141286C>T		CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"Interferons"	5448	protein-coding gene	gene with protein product	"IFN-omega 1, interferon omega-1"	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.284G>A	9.37:g.21141286C>T	ENSP00000369578:p.Arg95His		Somatic					p.R95H	NM_002177.1	NP_002168.1	WXS	Illumina GAIIx	Phase_I	P05000	IFNW1_HUMAN		GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	858	-			95		R -> S (in dbSNP:rs2230055).			Q13168|Q5U802|Q5VWD0|Q7M4P5	Missense_Mutation	SNP	ENST00000380229.2	37	c.284G>A	CCDS6496.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825542	0.32237	.	.	ENSG00000177047	ENST00000380229	T	0.03441	3.93	4.54	-6.97	0.01616	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.767260	0.02616	N	0.102690	T	0.02807	0.0084	L	0.37630	1.12	0.09310	N	1	B	0.26935	0.164	B	0.19666	0.026	T	0.39121	-0.9629	10	0.30078	T	0.28	.	3.0022	0.06017	0.1055:0.1575:0.2256:0.5113	.	95	P05000	IFNW1_HUMAN	H	95	ENSP00000369578:R95H	ENSP00000369578:R95H	R	-	2	0	IFNW1	21131286	0.000000	0.05858	0.000000	0.03702	0.540000	0.34992	-2.191000	0.01246	-1.121000	0.02949	-1.446000	0.01064	CGC		0.557	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177		42	64	0	0	0	1	0	42	64					T	21141286	C	T	21141286	3	4	21	1	0	0	0	0	1	0	0	0	7561	768	27	1	307	1	IFNW1	9	21141286	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	116	21141286	120072145	374	1799										
SMU1	55234	broad.mit.edu	37	chr9	33053232	33053232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acggtaatatctgtccctgcGgtgctgcccagggatttaaa	11	10	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:33053232G>A	ENST00000397149.3	-	10	1229	c.1179C>T	c.(1177-1179)acC>acT	p.T393T	SMU1_ENST00000536631.1_Silent_p.T232T	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	393						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)		CTGTCCCTGCGGTGCTGCCCA	0.398																																						ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(1177-1179)acC>acT		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)							127	117	121					9																	33053232		2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33053232G>A	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.1179C>T	9.37:g.33053232G>A			Somatic				SMU1_ENST00000536631.1_Silent_p.T232T	p.T393T	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)	10	1229	-			393					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.1179C>T	CCDS6534.1																																																																																				0.398	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		38	47	0	0	0	1	0	38	47					A	33053232	G	A	33053232	2	1	21	1	0	0	0	0	0	0	0	1	14832	1103	39	1		1	SMU1	9	33053232	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	11911946	33053232	108160199	375	1800										
NFX1	4799	broad.mit.edu	37	chr9	33294897	33294897	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atcccaggggagcaaaacccAaaaaagcaacacagtttgta							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:33294897delA	ENST00000379540.3	+	2	567	c.505delA	c.(505-507)aaafs	p.K170fs	NFX1_ENST00000318524.6_Frame_Shift_Del_p.K170fs|NFX1_ENST00000379521.4_Frame_Shift_Del_p.K170fs	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	170					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)		AGCAAAACCCAAAAAAGCAAC	0.483																																						ENST00000379540.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(505-507)aafs		nuclear transcription factor, X-box binding 1							80	81	81					9																	33294897		2203	4300	6503	SO:0001589	frameshift_variant	0				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33294897delA	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.505delA	9.37:g.33294897delA	ENSP00000368856:p.Lys170fs		Somatic				NFX1_ENST00000318524.6_Frame_Shift_Del_p.K170fs|NFX1_ENST00000379521.4_Frame_Shift_Del_p.K170fs	p.K170fs	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)	2	567	+			170					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Frame_Shift_Del	DEL	ENST00000379540.3	37	c.505delA	CCDS6538.1																																																																																				0.483	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			31	64						31	64	---	---	---	---	-	33294897	A	-	33294897	7	5	21	1	0	1	0	1	0	0	0	0	10396	131	5	0	511	0	NFX1	9	33294897	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	241665	33294897	107918534	376	1801										
KIAA1539	80256	broad.mit.edu	37	chr9	35105812	35105812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtccgagaagtcaaaggtcaCaaggaacatctttaccacag	9	10	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:35105812C>T	ENST00000378561.1	-	7	4385	c.1330G>A	c.(1330-1332)Gtg>Atg	p.V444M	FAM214B_ENST00000322813.5_Missense_Mutation_p.V444M|FAM214B_ENST00000603301.1_Missense_Mutation_p.V444M|FAM214B_ENST00000378554.2_Intron|FAM214B_ENST00000378566.1_Missense_Mutation_p.V139M|FAM214B_ENST00000378557.1_Missense_Mutation_p.V444M|STOML2_ENST00000356493.5_5'Flank|STOML2_ENST00000452248.2_5'Flank|FAM214B_ENST00000605244.1_Missense_Mutation_p.V444M|FAM214B_ENST00000488109.2_Missense_Mutation_p.V444M|FAM214B_ENST00000605392.1_5'Flank			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	444						nucleus (GO:0005634)											TCAAAGGTCACAAGGAACATC	0.547																																						ENST00000378561.1																			0											c.(1330-1332)Gtg>Atg		family with sequence similarity 214, member B							160	134	143					9																	35105812		2203	4300	6503	SO:0001583	missense	80256					nucleus		g.chr9:35105812C>T	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"KIAA1539"	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.1330G>A	9.37:g.35105812C>T	ENSP00000367823:p.Val444Met		Somatic				FAM214B_ENST00000488109.2_Missense_Mutation_p.V444M|FAM214B_ENST00000378566.1_Missense_Mutation_p.V139M|FAM214B_ENST00000603301.1_Missense_Mutation_p.V444M|FAM214B_ENST00000322813.5_Missense_Mutation_p.V444M|FAM214B_ENST00000605244.1_Missense_Mutation_p.V444M|FAM214B_ENST00000378557.1_Missense_Mutation_p.V444M|FAM214B_ENST00000378554.2_Intron	p.V444M			WXS	Illumina GAIIx	Phase_I	Q7L5A3	K1539_HUMAN			7	4385	-			444					B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	c.1330G>A	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879274	0.91740	.	.	ENSG00000005238	ENST00000378566;ENST00000322813;ENST00000378561;ENST00000378557	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80688	-0.1271	9	0.87932	D	0	-11.1528	19.0374	0.92985	0.0:1.0:0.0:0.0	.	444	Q7L5A3	K1539_HUMAN	M	139;444;444;444	.	ENSP00000319897:V444M	V	-	1	0	KIAA1539	35095812	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.285000	0.78660	2.831000	0.97527	0.561000	0.74099	GTG		0.547	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182		24	42	0	0	0	1	0	24	42					T	35105812	C	T	35105812	3	4	21	1	0	0	0	0	1	0	0	0	8251	478	17	3	294	3	KIAA1539	9	35105812	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1810915	35105812	106107619	377	1802										
RUSC2	9853	broad.mit.edu	37	chr9	35555086	35555086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccgagagccgaccagtccttCgctacagcaaggaacagagg	12	13	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:35555086C>T	ENST00000455600.1	+	3	2613	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	682						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)			ACCAGTCCTTCGCTACAGCAA	0.577																																						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.(2044-2046)Cgc>Tgc		RUN and SH3 domain containing 2							90	90	90					9																	35555086		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35555086C>T	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.2044C>T	9.37:g.35555086C>T	ENSP00000393922:p.Arg682Cys		Somatic					p.R682C	NM_001135999.1	NP_001129471.1	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	2613	+			682					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.2044C>T	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539488	0.85917	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.45276	0.9;0.9	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.49795	0.1578	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	P	0.57846	0.828	T	0.54873	-0.8228	10	0.87932	D	0	-9.8984	16.9888	0.86348	0.0:1.0:0.0:0.0	.	682	Q8N2Y8	RUSC2_HUMAN	C	682	ENSP00000355177:R682C;ENSP00000393922:R682C	ENSP00000355177:R682C	R	+	1	0	RUSC2	35545086	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.246000	0.65411	2.317000	0.78254	0.563000	0.77884	CGC		0.577	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		71	91	0	0	0	1	0	71	91					T	35555086	C	T	35555086	3	4	21	1	0	0	0	0	1	0	0	0	13766	884	31	1	2050	1	RUSC2	9	35555086	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	449274	35555086	105658345	378	1803										
FRMPD1	22844	broad.mit.edu	37	chr9	37740148	37740148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtactcgaacctctctctgaCaggcgcctggtgaaactggc	11	13	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:37740148C>T	ENST00000539465.1	+	15	2216	c.1623C>T	c.(1621-1623)gaC>gaT	p.D541D	FRMPD1_ENST00000541302.1_Silent_p.D410D|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Silent_p.D363D|FRMPD1_ENST00000377765.3_Silent_p.D541D			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	541						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)		CTCTCTCTGACAGGCGCCTGG	0.587																																						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.(1621-1623)gaC>gaT		FERM and PDZ domain containing 1							67	74	72					9																	37740148		2203	4300	6503	SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37740148C>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1623C>T	9.37:g.37740148C>T			Somatic				FRMPD1_ENST00000377765.3_Silent_p.D541D|FRMPD1_ENST00000536622.1_Silent_p.D363D|FRMPD1_ENST00000541302.1_Silent_p.D410D|RP11-613M10.9_ENST00000540557.1_Intron	p.D541D			WXS	Illumina GAIIx	Phase_I	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	2216	+			541					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.1623C>T	CCDS6612.1																																																																																				0.587	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		49	88	0	0	0	1	0	49	88					T	37740148	C	T	37740148	2	4	21	1	0	0	0	0	0	0	0	1	6065	477	17	3		3	FRMPD1	9	37740148	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2185062	37740148	103473283	379	1804										
ALDH1B1	219	broad.mit.edu	37	chr9	38395909	38395909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agtcagcaagaagaccttccCgacggtcaaccctaccaccg	8	16	2	2	rs144062423		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:38395909C>T	ENST00000377698.3	+	2	317	c.164C>T	c.(163-165)cCg>cTg	p.P55L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	55					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)		AAGACCTTCCCGACGGTCAAC	0.597													C|||	1	0.000199681	0	0	5008	,	,		19197	0		0.001	False		,,,				2504	0					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.(163-165)cCg>cTg		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)	C	LEU/PRO	0,4406		0,0,2203	97	89	92		164	4	0.7	9	dbSNP_134	92	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ALDH1B1	NM_000692.4	98	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	55/518	38395909	3,13003	2203	4300	6503	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38395909C>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.164C>T	9.37:g.38395909C>T	ENSP00000366927:p.Pro55Leu		Somatic					p.P55L	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	317	+			55					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.164C>T	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295648	0.23564	0.0	3.49E-4	ENSG00000137124	ENST00000377698	T	0.76448	-1.02	5.81	3.97	0.46021	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000005	T	0.76140	0.3946	M	0.80746	2.51	0.58432	D	0.999998	B	0.32203	0.36	B	0.26202	0.067	T	0.75706	-0.3224	10	0.87932	D	0	.	11.3921	0.49820	0.0:0.8637:0.0:0.1363	.	55	P30837	AL1B1_HUMAN	L	55	ENSP00000366927:P55L	ENSP00000366927:P55L	P	+	2	0	ALDH1B1	38385909	1.000000	0.71417	0.679000	0.29978	0.196000	0.23810	4.420000	0.59841	0.796000	0.33947	0.655000	0.94253	CCG		0.597	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			37	63	0	0	0	1	0	37	63					T	38395909	C	T	38395909	3	4	21	1	0	0	0	0	1	0	0	0	493	652	23	1	166	1	ALDH1B1	9	38395909	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	655761	38395909	102817522	380	1805										
FAM75A6	389730	broad.mit.edu	37	chr9	43627119	43627119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cttgcactttattctgcgatGcagggcaagctactccagtg	10	11	1	0	rs570868586		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:43627119G>A	ENST00000332857.6	-	4	1596	c.1568C>T	c.(1567-1569)gCa>gTa	p.A523V	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	523					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATTCTGCGATGCAGGGCAAGC	0.502																																						ENST00000332857.6																			0											c.(1567-1569)gCa>gTa		SPATA31 subfamily A, member 6							11	12	12					9																	43627119		609	1528	2137	SO:0001583	missense	389730							g.chr9:43627119G>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.1568C>T	9.37:g.43627119G>A	ENSP00000329825:p.Ala523Val		Somatic					p.A523V	NM_001145196.1	NP_001138668.1	WXS	Illumina GAIIx	Phase_I					4	1596	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1568C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382140	0.24944	.	.	ENSG00000185775	ENST00000332857	T	0.07327	3.2	2.35	0.176	0.15049	.	1.425510	0.04301	N	0.347364	T	0.14874	0.0359	L	0.53249	1.67	0.09310	N	1	P	0.41313	0.745	P	0.47915	0.561	T	0.30001	-0.9993	10	0.46703	T	0.11	.	6.5876	0.22630	0.0:0.0:0.4616:0.5384	.	523	Q5VVP1	F75A6_HUMAN	V	523	ENSP00000329825:A523V	ENSP00000329825:A523V	A	-	2	0	FAM75A6	43567115	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.330000	0.02675	0.057000	0.16193	0.383000	0.25322	GCA		0.502	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		150	208	0	0	0	1	0	150	208					A	43627119	G	A	43627119	3	1	21	1	0	0	0	0	1	0	0	0	5630	1319	46	3	2467	3	FAM75A6	9	43627119	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	5231210	43627119	97586312	381	1806										
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	11	9	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:70993145A>G	ENST00000396396.1	+	2	521	c.292A>G	c.(292-294)Atc>Gtc	p.I98V	PGM5_ENST00000396392.1_Missense_Mutation_p.I98V|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.I98V(3)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ACAGAATGGCATCTTGTCGAC	0.478																																						ENST00000396396.1																			3	Substitution - Missense(3)	p.I98V(3)	endometrium(3)	endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(292-294)Atc>Gtc		phosphoglucomutase 5							35	38	37					9																	70993145		2198	4289	6487	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:70993145A>G	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.292A>G	9.37:g.70993145A>G	ENSP00000379678:p.Ile98Val		Somatic				PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.I98V	p.I98V	NM_021965.3	NP_068800.2	WXS	Illumina GAIIx	Phase_I	Q15124	PGM5_HUMAN			2	521	+			98					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.292A>G	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	14.68	2.608357	0.46527	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	T;T;T	0.62498	0.02;0.02;0.02	4.37	4.37	0.52481	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.137251	0.48286	U	0.000197	T	0.73853	0.3640	M	0.88310	2.945	0.45502	D	0.998467	B	0.31227	0.314	P	0.45167	0.472	T	0.76953	-0.2768	10	0.72032	D	0.01	.	8.4592	0.32917	0.8259:0.0:0.0:0.1741	.	98	Q15124	PGM5_HUMAN	V	98;98;98;64	ENSP00000379678:I98V;ENSP00000379674:I98V;ENSP00000394864:I64V	ENSP00000366531:I98V	I	+	1	0	PGM5	70182965	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.606000	0.61126	1.730000	0.51580	0.445000	0.29226	ATC		0.478	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		5	70	0	0	0	1	0	5	70					G	70993145	A	G	70993145	3	3	21	1	0	0	0	0	1	0	0	0	11810	217	8	4	298	4	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	27366026	70993145	70220286	382	1807										
PIP5K1B	8395	broad.mit.edu	37	chr9	71491650	71491650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gactttagatttaagacataCgctccattagcattccgata	6	9	0	2	rs143726902	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:71491650C>T	ENST00000265382.3	+	6	563	c.258C>T	c.(256-258)taC>taT	p.Y86Y	PIP5K1B_ENST00000541509.1_Silent_p.Y86Y	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	86	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TTAAGACATACGCTCCATTAG	0.373																																						ENST00000265382.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(256-258)taC>taT		phosphatidylinositol-4-phosphate 5-kinase, type I, beta		C		9,4397	15.5+/-35.6	0,9,2194	121	121	121		258	-0.7	1	9	dbSNP_134	121	0,8600		0,0,4300	no	coding-synonymous	PIP5K1B	NM_003558.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		86/541	71491650	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71491650C>T	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.258C>T	9.37:g.71491650C>T			Somatic				PIP5K1B_ENST00000541509.1_Silent_p.Y86Y	p.Y86Y	NM_003558.2	NP_003549.1	WXS	Illumina GAIIx	Phase_I	O14986	PI51B_HUMAN		Lung(182;0.133)	6	563	+			86			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Silent	SNP	ENST00000265382.3	37	c.258C>T	CCDS6624.1																																																																																				0.373	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		28	36	0	0	0	1	0	28	36					T	71491650	C	T	71491650	2	4	21	1	0	0	0	0	0	0	0	1	11949	547	19	1		1	PIP5K1B	9	71491650	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	498505	71491650	69721781	383	1808										
ALDH1A1	216	broad.mit.edu	37	chr9	75543858	75543858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cagcccaacctgcacagtagCgcaatgttttgatgcagcct	9	13	0	1	rs188688581		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:75543858C>T	ENST00000297785.3	-	4	446	c.392G>A	c.(391-393)cGc>cAc	p.R131H	ALDH1A1_ENST00000482210.1_5'UTR|ALDH1A1_ENST00000376939.1_Missense_Mutation_p.R131H	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	131					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)	TGCACAGTAGCGCAATGTTTT	0.428													C|||	1	0.000199681	0	0	5008	,	,		16300	0.001		0	False		,,,				2504	0					ENST00000297785.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17						c.(391-393)cGc>cAc		aldehyde dehydrogenase 1 family, member A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						182	157	165					9																	75543858		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.chr9:75543858C>T	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.392G>A	9.37:g.75543858C>T	ENSP00000297785:p.Arg131His		Somatic				ALDH1A1_ENST00000482210.1_5'UTR|ALDH1A1_ENST00000376939.1_Missense_Mutation_p.R131H	p.R131H	NM_000689.4	NP_000680.2	WXS	Illumina GAIIx	Phase_I	P00352	AL1A1_HUMAN			4	446	-			131					O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	c.392G>A	CCDS6644.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	15.73	2.918558	0.52546	.	.	ENSG00000165092	ENST00000297785;ENST00000376939;ENST00000428593;ENST00000419959;ENST00000446946	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.9	0.893	0.19236	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.164532	0.42420	N	0.000704	T	0.71879	0.3392	M	0.78285	2.405	0.37928	D	0.931922	B	0.34181	0.44	B	0.23150	0.044	T	0.71748	-0.4499	10	0.87932	D	0	.	10.2488	0.43356	0.0:0.6715:0.0:0.3285	.	131	P00352	AL1A1_HUMAN	H	131;131;145;131;131	ENSP00000297785:R131H;ENSP00000366138:R131H;ENSP00000388026:R131H;ENSP00000401361:R131H	ENSP00000297785:R131H	R	-	2	0	ALDH1A1	74733678	1.000000	0.71417	0.864000	0.33941	0.602000	0.36980	2.469000	0.45110	0.118000	0.18165	-0.253000	0.11424	CGC		0.428	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			48	90	0	0	0	1	0	48	90					T	75543858	C	T	75543858	3	4	21	1	0	0	0	0	1	0	0	0	490	768	27	1	1153	1	ALDH1A1	9	75543858	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	4052208	75543858	65669573	384	1809										
ALDH1A1	216	broad.mit.edu	37	chr9	75545849	75545849	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gccaacttgtataatagtcgCcccctctcggaagcatccat							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:75545849delC	ENST00000297785.3	-	3	312	c.258delG	c.(256-258)gggfs	p.G86fs	ALDH1A1_ENST00000482210.1_5'UTR|ALDH1A1_ENST00000376939.1_Frame_Shift_Del_p.G86fs	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	86					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)	ATAATAGTCGCCCCCTCTCGG	0.498																																						ENST00000297785.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17						c.(256-258)ggfs		aldehyde dehydrogenase 1 family, member A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						97	96	97					9																	75545849		2203	4300	6503	SO:0001589	frameshift_variant	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75545849delC	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.258delG	9.37:g.75545849delC	ENSP00000297785:p.Gly86fs		Somatic				ALDH1A1_ENST00000482210.1_5'UTR|ALDH1A1_ENST00000376939.1_Frame_Shift_Del_p.G86fs	p.G86fs	NM_000689.4	NP_000680.2	WXS	Illumina GAIIx	Phase_I	P00352	AL1A1_HUMAN			3	312	-			86					O00768|Q5SYR1	Frame_Shift_Del	DEL	ENST00000297785.3	37	c.258delG	CCDS6644.1																																																																																				0.498	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			58	88						58	88	---	---	---	---	-	75545849	C	-	75545849	7	5	21	1	0	1	0	1	0	0	0	0	490	726	26	0	1291	0	ALDH1A1	9	75545849	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1991	75545849	65667582	385	1810										
GNAQ	2776	broad.mit.edu	37	chr9	80343579	80343579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gagccttgctttcctccattCggttctggaaaaaaaaaaaa	7	9	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:80343579C>T	ENST00000286548.4	-	6	962	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	GNAQ_ENST00000397476.3_Missense_Mutation_p.R45Q	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	247					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						TTCCTCCATTCGGTTCTGGAA	0.333			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"guanine nucleotide binding protein (G protein), q polypeptide"			E			uveal melanoma		0				NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(739-741)cGa>cAa		guanine nucleotide binding protein (G protein), q polypeptide							103	103	103					9																	80343579		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80343579C>T		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.740G>A	9.37:g.80343579C>T	ENSP00000286548:p.Arg247Gln		Somatic				GNAQ_ENST00000397476.3_Missense_Mutation_p.R45Q	p.R247Q	NM_002072.3	NP_002063.2	WXS	Illumina GAIIx	Phase_I	P50148	GNAQ_HUMAN			6	962	-			247					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.740G>A	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	C	36	5.718812	0.96839	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.92048	-2.96;-2.96	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.96059	0.8716	M	0.86268	2.805	0.80722	D	1	D	0.71674	0.998	P	0.58873	0.847	D	0.96020	0.9008	10	0.72032	D	0.01	.	20.1141	0.97919	0.0:1.0:0.0:0.0	.	247	P50148	GNAQ_HUMAN	Q	247;45	ENSP00000286548:R247Q;ENSP00000443197:R45Q	ENSP00000286548:R247Q	R	-	2	0	GNAQ	79533399	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.818000	0.86416	2.757000	0.94681	0.591000	0.81541	CGA		0.333	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		53	85	0	0	0	1	0	53	85					T	80343579	C	T	80343579	3	4	21	1	0	0	0	0	1	0	0	0	6517	884	31	1	347	1	GNAQ	9	80343579	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	4797730	80343579	60869852	386	1811										
FLJ46321	389763	broad.mit.edu	37	chr9	84607691	84607692	+	Frame_Shift_Ins	INS	-	-	G													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atgctttccatggagaatgtINSggggaattatcagggataca					rs34942699		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:84607691_84607692insG	ENST00000344803.2	+	4	2353_2354	c.2306_2307insG	c.(2305-2310)gtggggfs	p.VG769fs		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	769					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATGGAGAATGTGGGGAATTATC	0.48																																						ENST00000344803.2																			0											c.(2305-2307)gggfs		SPATA31 subfamily D, member 1																																				SO:0001589	frameshift_variant	389763							g.chr9:84607691_84607692insG		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.2310dupG	9.37:g.84607695_84607695dupG	ENSP00000341988:p.Val769fs		Somatic					p.G769fs	NM_001001670.2	NP_001001670.1	WXS	Illumina GAIIx	Phase_I					4	2353_2354	+									Frame_Shift_Ins	INS	ENST00000344803.2	37	c.2306_2307insG	CCDS47986.1																																																																																				0.48	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		48	48						48	48	---	---	---	---	G	84607692	-	G	84607691	7	5	21	1	0	1	1	0	0	0	0	0	5940	1696	59	0	2320	0	FLJ46321	9	84607691	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	4264112	84607691	56605740	387	1812										
SLC28A3	64078	broad.mit.edu	37	chr9	86900965	86900965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cagattcacagcgatgttggCcaccagggagatggaggagg	16	8	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:86900965C>T	ENST00000376238.4	-	13	1391	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Missense_Mutation_p.A379T	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	448					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	GCGATGTTGGCCACCAGGGAG	0.473																																					Ovarian(106;425 1539 34835 42413 43572)	ENST00000376238.4																			0				endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1342-1344)Gcc>Acc		solute carrier family 28 (concentrative nucleoside transporter), member 3							94	84	88					9																	86900965		2203	4300	6503	SO:0001583	missense	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86900965C>T	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1342G>A	9.37:g.86900965C>T	ENSP00000365413:p.Ala448Thr		Somatic				SLC28A3_ENST00000537648.1_Missense_Mutation_p.A379T|RP11-380F14.2_ENST00000419815.1_RNA	p.A448T	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	WXS	Illumina GAIIx	Phase_I	Q9HAS3	S28A3_HUMAN			13	1391	-			448					A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.1342G>A	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455089	0.84209	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.06687	3.27;3.27	5.88	5.88	0.94601	Na dependent nucleoside transporter, C-terminal (1);	0.105247	0.64402	D	0.000004	T	0.24928	0.0605	M	0.86097	2.795	0.80722	D	1	B	0.31318	0.319	B	0.41691	0.364	T	0.01175	-1.1428	10	0.40728	T	0.16	-17.8427	20.2405	0.98372	0.0:1.0:0.0:0.0	.	448	Q9HAS3	S28A3_HUMAN	T	448;379	ENSP00000365413:A448T;ENSP00000446438:A379T	ENSP00000365413:A448T	A	-	1	0	SLC28A3	86090785	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	7.786000	0.85741	2.797000	0.96272	0.561000	0.74099	GCC		0.473	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		16	19	0	0	0	1	0	16	19					T	86900965	C	T	86900965	3	4	21	1	0	0	0	0	1	0	0	0	14548	739	26	3	757	3	SLC28A3	9	86900965	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2293274	86900965	54312466	388	1813										
SPIN1	10927	broad.mit.edu	37	chr9	91083304	91083304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cagcgacatctcgaatcagcGatgcacacttggcagacaca	9	13	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:91083304G>A	ENST00000375859.3	+	5	651	c.373G>A	c.(373-375)Gat>Aat	p.D125N	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.D125N	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	125					chromatin modification (GO:0016568)|gamete generation (GO:0007276)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of Wnt signaling pathway (GO:0030177)|rRNA transcription (GO:0009303)|Wnt signaling pathway (GO:0016055)	nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle (GO:0005819)	methylated histone binding (GO:0035064)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						TCGAATCAGCGATGCACACTT	0.413																																						ENST00000375859.3																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(373-375)Gat>Aat		spindlin 1							127	119	122					9																	91083304		2171	4287	6458	SO:0001583	missense	10927				cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding	g.chr9:91083304G>A	AF317228	CCDS43843.1	9q22.1	2008-02-05	2007-01-03	2007-01-03	ENSG00000106723	ENSG00000106723			11243	protein-coding gene	gene with protein product		609936	"spindlin"	SPIN		16098913	Standard	NM_006717		Approved		uc004apy.3	Q9Y657	OTTHUMG00000020168	ENST00000375859.3:c.373G>A	9.37:g.91083304G>A	ENSP00000365019:p.Asp125Asn		Somatic				SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.D125N	p.D125N	NM_006717.2	NP_006708.2	WXS	Illumina GAIIx	Phase_I	Q9Y657	SPIN1_HUMAN			5	651	+			125					A8K0X6|B3KRQ4|Q7KZJ8|Q9GZT2|Q9H0N7	Missense_Mutation	SNP	ENST00000375859.3	37	c.373G>A	CCDS43843.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624312	0.87560	.	.	ENSG00000106723	ENST00000375859;ENST00000541629	T;T	0.50813	0.73;0.73	5.12	3.29	0.37713	.	0.143281	0.47852	D	0.000209	T	0.44138	0.1279	L	0.59436	1.845	0.53005	D	0.999964	D	0.58970	0.984	B	0.42361	0.385	T	0.48031	-0.9070	10	0.87932	D	0	-7.9616	11.0915	0.48119	0.1484:0.0:0.8516:0.0	.	125	Q9Y657	SPIN1_HUMAN	N	125	ENSP00000365019:D125N;ENSP00000441864:D125N	ENSP00000365019:D125N	D	+	1	0	SPIN1	90273124	1.000000	0.71417	0.754000	0.31244	0.980000	0.70556	9.155000	0.94700	0.750000	0.32877	0.655000	0.94253	GAT		0.413	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052967.1	NM_006717		23	31	0	0	0	1	0	23	31					A	91083304	G	A	91083304	3	1	21	1	0	0	0	0	1	0	0	0	15067	1058	37	1	387	1	SPIN1	9	91083304	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	4182339	91083304	50130127	389	1814										
SECISBP2	79048	broad.mit.edu	37	chr9	91964840	91964840	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agatccacagccgcagattcAgggagtgagtgagcccctgc	13	12	1	4			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:91964840A>G	ENST00000375807.3	+	13	1959	c.1888A>G	c.(1888-1890)Agg>Ggg	p.R630G	SECISBP2_ENST00000534113.2_Missense_Mutation_p.R562G|SECISBP2_ENST00000339901.4_Missense_Mutation_p.R557G	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	630					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						CCGCAGATTCAGGGAGTGAGT	0.567																																						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.(1888-1890)Agg>Ggg		SECIS binding protein 2							89	76	81					9																	91964840		2203	4300	6503	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91964840A>G	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1888A>G	9.37:g.91964840A>G	ENSP00000364965:p.Arg630Gly		Somatic				SECISBP2_ENST00000339901.4_Missense_Mutation_p.R557G|SECISBP2_ENST00000534113.2_Missense_Mutation_p.R562G	p.R630G	NM_024077.3	NP_076982.3	WXS	Illumina GAIIx	Phase_I	Q96T21	SEBP2_HUMAN			13	1959	+			630					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.1888A>G	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.670877	0.67814	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	D;D;D	0.81908	-1.5;-1.55;-1.54	4.73	2.35	0.29111	.	0.000000	0.85682	D	0.000000	D	0.89791	0.6817	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.991;0.997;0.994	D	0.88865	0.3329	10	0.87932	D	0	-23.1315	10.6156	0.45447	0.5795:0.4205:0.0:0.0	.	637;557;630	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	G	630;636;557;562	ENSP00000364965:R630G;ENSP00000364959:R557G;ENSP00000436650:R562G	ENSP00000364959:R557G	R	+	1	2	SECISBP2	91154660	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	1.073000	0.30691	0.298000	0.22638	-0.313000	0.08912	AGG		0.567	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		30	38	0	0	0	1	0	30	38					G	91964840	A	G	91964840	3	3	21	1	0	0	0	0	1	0	0	0	14021	179	7	4	1938	4	SECISBP2	9	91964840	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	881536	91964840	49248591	390	1815										
ROR2	4920	broad.mit.edu	37	chr9	94486999	94486999	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gatctgtgccacaaggtgcaCgaagtcggggggctccaggg	17	10	1	0	rs146067291	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:94486999C>T	ENST00000375708.3	-	9	1975	c.1777G>A	c.(1777-1779)Gtg>Atg	p.V593M	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.V453M	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	593	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)			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						ACAAGGTGCACGAAGTCGGGG	0.632																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1777-1779)Gtg>Atg		receptor tyrosine kinase-like orphan receptor 2		C	MET/VAL	0,4406		0,0,2203	64	58	60		1777	3.9	0.6	9	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	missense	ROR2	NM_004560.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	593/944	94486999	1,13005	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.chr9:94486999C>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.1777G>A	9.37:g.94486999C>T	ENSP00000364860:p.Val593Met		Somatic				ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.V453M	p.V593M	NM_004560.3	NP_004551.2	WXS	Illumina GAIIx	Phase_I	Q01974	ROR2_HUMAN			9	1975	-			593			Protein kinase.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.1777G>A	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	C	9.570	1.120721	0.20877	0.0	1.16E-4	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.83914	-1.78;-1.78	4.86	3.89	0.44902	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.259259	0.19537	N	0.111891	T	0.74816	0.3766	N	0.26092	0.79	0.48087	D	0.999586	D;P	0.60575	0.988;0.832	P;B	0.47573	0.55;0.199	T	0.75340	-0.3352	10	0.59425	D	0.04	.	7.3481	0.26674	0.2775:0.5915:0.131:0.0	.	593;453	Q01974;B1APY4	ROR2_HUMAN;.	M	453;593	ENSP00000364867:V453M;ENSP00000364860:V593M	ENSP00000364860:V593M	V	-	1	0	ROR2	93526820	1.000000	0.71417	0.579000	0.28588	0.024000	0.10985	2.025000	0.41059	2.526000	0.85167	0.561000	0.74099	GTG		0.632	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			20	29	0	0	0	1	0	20	29					T	94486999	C	T	94486999	3	4	21	1	0	0	0	0	1	0	0	0	13542	536	19	1	1058	1	ROR2	9	94486999	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2522159	94486999	46726432	391	1816										
PTCH1	5727	broad.mit.edu	37	chr9	98238411	98238411	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgtgagggccacgctggctcCtgtgcgcttcaggcactccc	13	16	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:98238411C>A	ENST00000331920.6	-	12	1932	c.1633G>T	c.(1633-1635)Gga>Tga	p.G545*	PTCH1_ENST00000375274.2_Nonsense_Mutation_p.G544*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.G479*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.G394*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.G394*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.G394*|PTCH1_ENST00000430669.2_Nonsense_Mutation_p.G479*	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	545	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACGCTGGCTCCTGTGCGCTTC	0.592																																						ENST00000430669.2																			0				NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(1435-1437)Gga>Tga		patched 1							70	52	58					9																	98238411		2203	4300	6503	SO:0001587	stop_gained	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98238411C>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1633G>T	9.37:g.98238411C>A	ENSP00000332353:p.Gly545*		Somatic				PTCH1_ENST00000437951.1_Nonsense_Mutation_p.G479*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.G544*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.G394*|PTCH1_ENST00000331920.6_Nonsense_Mutation_p.G545*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.G394*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.G394*	p.G479*			WXS	Illumina GAIIx	Phase_I	Q13635	PTC1_HUMAN			12	2020	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	545			SSD.		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Nonsense_Mutation	SNP	ENST00000331920.6	37	c.1435G>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	43	9.936196	0.99299	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.0088	19.0716	0.93140	0.0:1.0:0.0:0.0	.	.	.	.	X	545;479;394;394;479;394;544;210	.	ENSP00000332353:G545X	G	-	1	0	PTCH1	97278232	1.000000	0.71417	0.949000	0.38748	0.992000	0.81027	7.278000	0.78587	2.805000	0.96524	0.655000	0.94253	GGA		0.592	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		13	11	1	0	1.5842e-08	1	1.66388e-08	13	11					A	98238411	C	A	98238411	4	1	21	1	0	0	0	0	0	1	0	0	12742	690	24	5	2758	5	PTCH1	9	98238411	Nonsense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3751412	98238411	42975020	392	1817										
TSTD2	158427	broad.mit.edu	37	chr9	100367047	100367047	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgtaggacagagcatagcgtTcatcaaaaacaaacaacttc	7	9	2	1	rs544945853		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:100367047T>C	ENST00000341170.4	-	9	1596	c.1214A>G	c.(1213-1215)gAa>gGa	p.E405G	TSTD2_ENST00000354801.2_Missense_Mutation_p.E145G	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	405										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AGCATAGCGTTCATCAAAAAC	0.468													T|||	1	0.000199681	8e-04	0	5008	,	,		22508	0		0	False		,,,				2504	0					ENST00000341170.4																			0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(1213-1215)gAa>gGa		thiosulfate sulfurtransferase (rhodanese)-like domain containing 2							135	119	124					9																	100367047		2203	4300	6503	SO:0001583	missense	158427							g.chr9:100367047T>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.1214A>G	9.37:g.100367047T>C	ENSP00000342499:p.Glu405Gly		Somatic				TSTD2_ENST00000375172.2_Missense_Mutation_p.E179G|TSTD2_ENST00000354801.2_Missense_Mutation_p.E145G|TSTD2_ENST00000375165.1_Missense_Mutation_p.E145G	p.E405G	NM_139246.4	NP_640339.4	WXS	Illumina GAIIx	Phase_I	Q5T7W7	TSTD2_HUMAN			9	1596	-			405					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	ENST00000341170.4	37	c.1214A>G	CCDS6727.2	.	.	.	.	.	.	.	.	.	.	T	13.67	2.306230	0.40795	.	.	ENSG00000136925	ENST00000375172;ENST00000341170;ENST00000375165;ENST00000354801	T;T;T	0.32272	1.46;1.46;1.46	4.3	4.3	0.51218	Rhodanese-like (2);	0.165523	0.52532	D	0.000075	T	0.27241	0.0668	L	0.56280	1.765	0.40867	D	0.983886	B;B	0.10296	0.0;0.003	B;B	0.08055	0.001;0.003	T	0.11591	-1.0581	10	0.45353	T	0.12	-7.9182	8.3699	0.32408	0.0:0.0901:0.0:0.9099	.	179;405	B3KVC7;Q5T7W7	.;TSTD2_HUMAN	G	179;405;145;145	ENSP00000342499:E405G;ENSP00000364308:E145G;ENSP00000346856:E145G	ENSP00000342499:E405G	E	-	2	0	TSTD2	99406868	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	3.696000	0.54757	1.947000	0.56498	0.460000	0.39030	GAA		0.468	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		49	66	0	0	0	1	0	49	66					C	100367047	T	C	100367047	3	2	21	1	0	0	0	0	1	0	0	0	16690	1783	62	4	344	4	TSTD2	9	100367047	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2128636	100367047	40846384	393	1818										
TEX10	54881	broad.mit.edu	37	chr9	103108398	103108398	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tttagagagtttccacagaaGggaaataatattaagaactt	8	4	0	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:103108398G>T	ENST00000374902.4	-	4	1269	c.1093C>A	c.(1093-1095)Ctt>Att	p.L365I	TEX10_ENST00000537512.1_Missense_Mutation_p.L300I|TEX10_ENST00000535814.1_Missense_Mutation_p.L368I	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	365						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTCCACAGAAGGGAAATAATA	0.373																																						ENST00000374902.4																			0				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1093-1095)Ctt>Att		testis expressed 10							71	73	72					9																	103108398		2203	4299	6502	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103108398G>T	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1093C>A	9.37:g.103108398G>T	ENSP00000364037:p.Leu365Ile		Somatic				TEX10_ENST00000535814.1_Missense_Mutation_p.L368I|TEX10_ENST00000537512.1_Missense_Mutation_p.L300I	p.L365I	NM_017746.3	NP_060216.2	WXS	Illumina GAIIx	Phase_I	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	4	1269	-		Acute lymphoblastic leukemia(62;0.0527)	365					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.1093C>A	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912435	0.52439	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000429235;ENST00000537512	T;T;T	0.64991	-0.13;-0.13;-0.13	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73385	0.3580	M	0.66939	2.045	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.983;0.999;0.998;0.998;0.993	P;D;D;D;P	0.83275	0.795;0.991;0.996;0.99;0.884	T	0.74390	-0.3681	10	0.51188	T	0.08	-9.2419	7.1212	0.25446	0.2079:0.0:0.7921:0.0	.	300;368;233;233;365	B7Z9D5;B4DYV2;E7ERG2;B4DQR0;Q9NXF1	.;.;.;.;TEX10_HUMAN	I	368;365;233;10;300	ENSP00000444555:L368I;ENSP00000364037:L365I;ENSP00000438120:L300I	ENSP00000364037:L365I	L	-	1	0	TEX10	102148219	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.886000	0.48578	2.558000	0.86282	0.561000	0.74099	CTT		0.373	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		9	39	1	0	1.76689e-08	1	1.85133e-08	9	39					T	103108398	G	T	103108398	3	4	21	1	0	0	0	0	1	0	0	0	15787	1000	35	5	1744	5	TEX10	9	103108398	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2741351	103108398	38105033	394	1819										
C9orf84	158401	broad.mit.edu	37	chr9	114543240	114543240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aatcctccacaaagaaacttGctttccattggtccaagact	5	12	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:114543240G>A	ENST00000318737.4	-	2	163	c.35C>T	c.(34-36)gCa>gTa	p.A12V	C9orf84_ENST00000374287.3_Missense_Mutation_p.A12V|C9orf84_ENST00000374283.5_Missense_Mutation_p.A76V	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	12										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						AAAGAAACTTGCTTTCCATTG	0.353																																						ENST00000374287.3																			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.(34-36)gCa>gTa		chromosome 9 open reading frame 84							89	87	88					9																	114543240		2203	4300	6503	SO:0001583	missense	158401							g.chr9:114543240G>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.35C>T	9.37:g.114543240G>A	ENSP00000322108:p.Ala12Val		Somatic				C9orf84_ENST00000318737.4_Missense_Mutation_p.A12V|C9orf84_ENST00000374283.5_Missense_Mutation_p.A76V	p.A12V			WXS	Illumina GAIIx	Phase_I	Q5VXU9	CI084_HUMAN			4	295	-			12					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.35C>T	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992827	0.74703	.	.	ENSG00000165181	ENST00000374287;ENST00000318737;ENST00000374283	T;T;T	0.48836	3.54;3.54;0.8	4.52	4.52	0.55395	.	0.467868	0.16017	N	0.233515	T	0.52208	0.1720	L	0.27053	0.805	0.27999	N	0.935365	D;D	0.67145	0.996;0.974	P;P	0.62740	0.906;0.613	T	0.45220	-0.9276	10	0.52906	T	0.07	-5.7853	12.6334	0.56669	0.0:0.0:1.0:0.0	.	76;12	Q5VXU9-2;Q5VXU9	.;CI084_HUMAN	V	12;12;76	ENSP00000363405:A12V;ENSP00000322108:A12V;ENSP00000363401:A76V	ENSP00000322108:A12V	A	-	2	0	C9orf84	113583061	0.972000	0.33761	0.993000	0.49108	0.799000	0.45148	3.353000	0.52247	2.340000	0.79590	0.585000	0.79938	GCA		0.353	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		31	37	0	0	0	1	0	31	37					A	114543240	G	A	114543240	3	1	21	1	0	0	0	0	1	0	0	0	2502	1319	46	3	4536	3	C9orf84	9	114543240	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	11434842	114543240	26670191	395	1820										
UGCG	7357	broad.mit.edu	37	chr9	114695179	114695180	+	Frame_Shift_Ins	INS	-	-	T													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgaatccatgacaatatacaINStttttttgtctgcattatgg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:114695179_114695180insT	ENST00000374279.3	+	9	1537_1538	c.1087_1088insT	c.(1087-1089)attfs	p.I363fs	MIR4668_ENST00000582284.1_RNA	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	363					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)	p.I363V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	GACAATATACATTTTTTTGTCT	0.401																																						ENST00000374279.3																			1	Substitution - Missense(1)	p.I363V(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12						c.(1087-1089)tttfs		UDP-glucose ceramide glucosyltransferase	Miglustat(DB00419)																																			SO:0001589	frameshift_variant	7357				epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity	g.chr9:114695179_114695180insT	D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"Glycosyltransferase family 2 domain containing"	12524	protein-coding gene	gene with protein product	"glucosylceramide synthase", "ceramide glucosyltransferase"	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.1094dupT	9.37:g.114695186_114695186dupT	ENSP00000363397:p.Ile363fs		Somatic					p.F363fs	NM_003358.1	NP_003349.1	WXS	Illumina GAIIx	Phase_I	Q16739	CEGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.0433)	9	1537_1538	+			363					Q5T258	Frame_Shift_Ins	INS	ENST00000374279.3	37	c.1087_1088insT	CCDS6782.1																																																																																				0.401	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053661.1	NM_003358		19	119						19	119	---	---	---	---	T	114695180	-	T	114695179	7	5	21	1	0	1	1	0	0	0	0	0	16954	217	8	0	1121	0	UGCG	9	114695179	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	151939	114695179	26518252	396	1821										
RGS3	5998	broad.mit.edu	37	chr9	116356773	116356773	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aatgagtcccctggagccccTcccgcgggcaaggcagacaa	12	15	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:116356773T>C	ENST00000374140.2	+	23	3353	c.3144T>C	c.(3142-3144)ccT>ccC	p.P1048P	RGS3_ENST00000350696.5_Silent_p.P1048P|RGS3_ENST00000343817.5_Silent_p.P767P|RGS3_ENST00000462403.1_Silent_p.P161P|RGS3_ENST00000342620.5_Silent_p.P18P|RGS3_ENST00000374134.3_Silent_p.P369P|RGS3_ENST00000394646.3_Silent_p.P441P|RGS3_ENST00000462143.1_Silent_p.P369P	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1048					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						CTGGAGCCCCTCCCGCGGGCA	0.587																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3142-3144)ccT>ccC		regulator of G-protein signaling 3							56	67	64					9																	116356773		2203	4300	6503	SO:0001819	synonymous_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.chr9:116356773T>C	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.3144T>C	9.37:g.116356773T>C			Somatic				RGS3_ENST00000462403.1_Silent_p.P161P|RGS3_ENST00000350696.5_Silent_p.P1048P|RGS3_ENST00000394646.3_Silent_p.P441P|RGS3_ENST00000374134.3_Silent_p.P369P|RGS3_ENST00000462143.1_Silent_p.P369P|RGS3_ENST00000343817.5_Silent_p.P767P|RGS3_ENST00000342620.5_Silent_p.P18P	p.P1048P	NM_144488.4	NP_652759.3	WXS	Illumina GAIIx	Phase_I	P49796	RGS3_HUMAN			23	3353	+			1048					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	c.3144T>C	CCDS43869.1																																																																																				0.587	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		35	70	0	0	0	1	0	35	70					C	116356773	T	C	116356773	2	2	21	1	0	0	0	0	0	0	0	1	13321	1538	54	4		4	RGS3	9	116356773	Silent	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1661594	116356773	24856658	397	1822										
OR1L1	26737	broad.mit.edu	37	chr9	125424190	125424190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgtacttctttctaagcatcCtgtcttttgttgacatttgc	6	9	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:125424190C>T	ENST00000373686.1	+	1	346	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	OR1L1_ENST00000309623.1_Silent_p.L66L			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	116						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(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCTAAGCATCCTGTCTTTTGT	0.453																																						ENST00000373686.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						c.(346-348)Ctg>Ttg		olfactory receptor, family 1, subfamily L, member 1							159	151	154					9																	125424190		2203	4300	6503	SO:0001819	synonymous_variant	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424190C>T		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"GPCR / Class A : Olfactory receptors"	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.346C>T	9.37:g.125424190C>T			Somatic					p.L116L			WXS	Illumina GAIIx	Phase_I	Q8NH94	OR1L1_HUMAN			1	346	+			116					Q5T7Z3|Q6IFN2	Silent	SNP	ENST00000373686.1	37	c.346C>T																																																																																					0.453	OR1L1-201	KNOWN	basic	protein_coding	protein_coding				44	75	0	0	0	1	0	44	75					T	125424190	C	T	125424190	2	4	21	1	0	0	0	0	0	0	0	1	10972	680	24	3		3	OR1L1	9	125424190	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	9067417	125424190	15789241	398	1823										
SLC25A25	114789	broad.mit.edu	37	chr9	130860955	130860955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaagtccattttcaagctcaGtgtcttcatcccctcccagg	7	14	4	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:130860955G>A	ENST00000373064.5	+	1	373	c.110G>A	c.(109-111)aGt>aAt	p.S37N	SLC25A25_ENST00000432073.2_Intron|SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000433501.1_5'UTR|SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000373066.5_Intron	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	37					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TTCAAGCTCAGTGTCTTCATC	0.582																																						ENST00000373064.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						c.(109-111)aGt>aAt		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25							128	118	121					9																	130860955		2203	4300	6503	SO:0001583	missense	114789				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr9:130860955G>A	AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"Solute carriers", "EF-hand domain containing"	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.110G>A	9.37:g.130860955G>A	ENSP00000362155:p.Ser37Asn		Somatic				SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000433501.1_5'UTR|SLC25A25_ENST00000432073.2_Intron|SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000373066.5_Intron	p.S37N	NM_052901.4	NP_443133.2	WXS	Illumina GAIIx	Phase_I	Q6KCM7	SCMC2_HUMAN			1	373	+			37					Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	ENST00000373064.5	37	c.110G>A	CCDS6890.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736050	0.69189	.	.	ENSG00000148339	ENST00000373064	T	0.54866	0.55	5.37	5.37	0.77165	EF-hand-like domain (1);	.	.	.	.	T	0.40067	0.1102	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15292	-1.0442	9	0.21540	T	0.41	.	18.458	0.90728	0.0:0.0:1.0:0.0	.	37	Q6KCM7	SCMC2_HUMAN	N	37	ENSP00000362155:S37N	ENSP00000362155:S37N	S	+	2	0	SLC25A25	129900776	1.000000	0.71417	0.966000	0.40874	0.843000	0.47879	7.596000	0.82721	2.665000	0.90641	0.467000	0.42956	AGT		0.582	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054407.1	NM_052901		66	94	0	0	0	1	0	66	94					A	130860955	G	A	130860955	3	1	21	1	0	0	0	0	1	0	0	0	14503	1029	36	3	600	3	SLC25A25	9	130860955	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	5436765	130860955	10352476	399	1824										
LRRC8A	56262	broad.mit.edu	37	chr9	131670971	131670971	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccgacatcaaggagatcccgCtgtggatctatagcctgaag	11	11	2	2	rs368625725		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:131670971C>T	ENST00000259324.5	+	3	2051	c.1528C>T	c.(1528-1530)Ctg>Ttg	p.L510L	LRRC8A_ENST00000372600.4_Silent_p.L510L|LRRC8A_ENST00000372599.3_Silent_p.L510L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	510					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GGAGATCCCGCTGTGGATCTA	0.612																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(1528-1530)Ctg>Ttg		leucine rich repeat containing 8 family, member A		C	,,	2,4404	4.2+/-10.8	0,2,2201	37	35	35		1528,1528,1528	4.8	1	9		35	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	LRRC8A	NM_001127244.1,NM_001127245.1,NM_019594.3	,,	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	,,	510/811,510/811,510/811	131670971	2,13000	2203	4298	6501	SO:0001819	synonymous_variant	56262				pre-B cell differentiation	integral to membrane		g.chr9:131670971C>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1528C>T	9.37:g.131670971C>T			Somatic				LRRC8A_ENST00000372600.4_Silent_p.L510L|LRRC8A_ENST00000372599.3_Silent_p.L510L	p.L510L	NM_001127244.1	NP_001120716.1	WXS	Illumina GAIIx	Phase_I	Q8IWT6	LRC8A_HUMAN			3	2051	+			510					Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	c.1528C>T	CCDS35155.1																																																																																				0.612	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		24	28	0	0	0	1	0	24	28					T	131670971	C	T	131670971	2	4	21	1	0	0	0	0	0	0	0	1	9030	796	28	3		3	LRRC8A	9	131670971	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	810016	131670971	9542460	400	1825										
DOLK	22845	broad.mit.edu	37	chr9	131709514	131709514	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	actgcaaacactactgccgcCtctgccagcaccgatccact	6	18	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:131709514C>A	ENST00000372586.3	-	1	384	c.69G>T	c.(67-69)gaG>gaT	p.E23D	RP11-101E3.5_ENST00000482796.1_Intron|NUP188_ENST00000372577.2_5'Flank	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	23					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CTACTGCCGCCTCTGCCAGCA	0.662																																						ENST00000372586.3																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(67-69)gaG>gaT		dolichol kinase							38	43	41					9																	131709514		2203	4300	6503	SO:0001583	missense	22845				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	g.chr9:131709514C>A	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"dolichol kinase 1"	610746	"transmembrane protein 15"	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.69G>T	9.37:g.131709514C>A	ENSP00000361667:p.Glu23Asp		Somatic				RP11-101E3.5_ENST00000482796.1_Intron	p.E23D	NM_014908.3	NP_055723.1	WXS	Illumina GAIIx	Phase_I	Q9UPQ8	DOLK_HUMAN			1	384	-			23					Q5SRE6	Missense_Mutation	SNP	ENST00000372586.3	37	c.69G>T	CCDS6915.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.111217	0.56398	.	.	ENSG00000175283	ENST00000372586;ENST00000515348	D	0.84442	-1.85	5.12	3.14	0.36123	.	0.000000	0.64402	D	0.000002	D	0.89146	0.6632	L	0.57536	1.79	0.46749	D	0.999188	D	0.67145	0.996	D	0.75484	0.986	D	0.89211	0.3564	10	0.87932	D	0	-8.8581	10.0658	0.42303	0.0:0.7677:0.0:0.2323	.	23	Q9UPQ8	DOLK_HUMAN	D	23	ENSP00000361667:E23D	ENSP00000361667:E23D	E	-	3	2	DOLK	130749335	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.850000	0.39328	1.387000	0.46486	0.462000	0.41574	GAG		0.662	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		52	50	1	0	4.33383e-22	1	4.80502e-22	52	50					A	131709514	C	A	131709514	3	1	21	1	0	0	0	0	1	0	0	0	4705	680	24	5	1551	5	DOLK	9	131709514	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	38543	131709514	9503917	401	1826										
USP20	10868	broad.mit.edu	37	chr9	132630693	132630693	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcccgcggaggcccagccccCgtcaccacggtcctccagcc	11	22	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:132630693C>A	ENST00000315480.4	+	11	1258	c.1100C>A	c.(1099-1101)cCg>cAg	p.P367Q	USP20_ENST00000358355.1_Missense_Mutation_p.P367Q|USP20_ENST00000372429.3_Missense_Mutation_p.P367Q			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	367	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)				GCCCAGCCCCCGTCACCACGG	0.677																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(1099-1101)cCg>cAg		ubiquitin specific peptidase 20							25	29	28					9																	132630693		2091	4167	6258	SO:0001583	missense	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132630693C>A	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.1100C>A	9.37:g.132630693C>A	ENSP00000313811:p.Pro367Gln		Somatic				USP20_ENST00000372429.3_Missense_Mutation_p.P367Q|USP20_ENST00000358355.1_Missense_Mutation_p.P367Q	p.P367Q			WXS	Illumina GAIIx	Phase_I	Q9Y2K6	UBP20_HUMAN			11	1258	+		Ovarian(14;0.00556)	367					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.1100C>A	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	C	0.645	-0.811626	0.02798	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.16324	2.35;2.35;2.35	5.25	4.36	0.52297	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.885835	0.09896	N	0.741707	T	0.12646	0.0307	N	0.12961	0.28	0.33458	D	0.584545	B	0.21606	0.058	B	0.24701	0.055	T	0.14839	-1.0458	10	0.41790	T	0.15	.	11.4706	0.50266	0.0:0.9168:0.0:0.0832	.	367	Q9Y2K6	UBP20_HUMAN	Q	367	ENSP00000361506:P367Q;ENSP00000313811:P367Q;ENSP00000351122:P367Q	ENSP00000313811:P367Q	P	+	2	0	USP20	131670514	0.154000	0.22792	0.027000	0.17364	0.006000	0.05464	1.831000	0.39141	1.222000	0.43521	-0.254000	0.11334	CCG		0.677	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			33	62	1	0	4.74835e-14	1	5.09084e-14	33	62					A	132630693	C	A	132630693	3	1	21	1	0	0	0	0	1	0	0	0	17067	652	23	5	1134	5	USP20	9	132630693	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	921179	132630693	8582738	402	1827										
POMT1	10585	broad.mit.edu	37	chr9	134381807	134381807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caggttatttaggaggattcGatggcaattttttgtggaac	12	4	0	0	rs530211718		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:134381807G>A	ENST00000372228.3	+	4	426	c.247G>A	c.(247-249)Gat>Aat	p.D83N	POMT1_ENST00000419118.2_De_novo_Start_OutOfFrame|POMT1_ENST00000423007.1_Missense_Mutation_p.D83N|POMT1_ENST00000404875.2_De_novo_Start_OutOfFrame|POMT1_ENST00000354713.4_Missense_Mutation_p.R47Q|POMT1_ENST00000402686.3_Missense_Mutation_p.D83N|POMT1_ENST00000341012.7_Missense_Mutation_p.D29N|POMT1_ENST00000541219.1_De_novo_Start_InFrame	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	83					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)		AGGAGGATTCGATGGCAATTT	0.348													G|||	1	0.000199681	0	0	5008	,	,		19314	0.001		0	False		,,,				2504	0					ENST00000404875.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31								protein-O-mannosyltransferase 1							219	218	218					9																	134381807		2203	4300	6503	SO:0001583	missense	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134381807G>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.247G>A	9.37:g.134381807G>A	ENSP00000361302:p.Asp83Asn		Somatic				POMT1_ENST00000419118.2_De_novo_Start_OutOfFrame|POMT1_ENST00000402686.3_Missense_Mutation_p.D83N|POMT1_ENST00000372228.3_Missense_Mutation_p.D83N|POMT1_ENST00000354713.4_Missense_Mutation_p.R47Q|POMT1_ENST00000341012.7_Missense_Mutation_p.D29N|POMT1_ENST00000541219.1_De_novo_Start_InFrame|POMT1_ENST00000423007.1_Missense_Mutation_p.D83N		NM_001136114.1	NP_001129586.1	WXS	Illumina GAIIx	Phase_I	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	0	190	+		Myeloproliferative disorder(178;0.204)						B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Translation_Start_Site	SNP	ENST00000372228.3	37		CCDS6943.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.47|17.47	3.398675|3.398675	0.62177|0.62177	.|.	.|.	ENSG00000130714|ENSG00000130714	ENST00000423007;ENST00000341012;ENST00000372228;ENST00000402686;ENST00000418774;ENST00000448212|ENST00000354713	D;D;D;D;D;D|D	0.86297|0.81659	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1|-1.52	5.61|5.61	5.61|5.61	0.85477|0.85477	Glycosyl transferase, family 39 (1);|.	0.044730|.	0.85682|.	D|.	0.000000|.	T|T	0.72170|0.72170	0.3427|0.3427	L|L	0.35341|0.35341	1.055|1.055	0.80722|0.80722	D|D	1|1	D;P;P|B	0.53312|0.33528	0.959;0.921;0.772|0.416	B;B;B|B	0.43950|0.24974	0.364;0.437;0.38|0.057	T|T	0.71676|0.71676	-0.4521|-0.4521	10|9	0.17369|0.42905	T|T	0.5|0.14	-23.8907|-23.8907	18.6338|18.6338	0.91370|0.91370	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	83;83;83|47	B4DWD8;Q9Y6A1;Q9Y6A1-2|B4DTW4	.;POMT1_HUMAN;.|.	N|Q	83;29;83;83;83;29|47	ENSP00000404119:D83N;ENSP00000343034:D29N;ENSP00000361302:D83N;ENSP00000385797:D83N;ENSP00000390737:D83N;ENSP00000403736:D29N|ENSP00000346748:R47Q	ENSP00000343034:D29N|ENSP00000346748:R47Q	D|R	+|+	1|2	0|0	POMT1|POMT1	133371628|133371628	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.844000|0.844000	0.47949|0.47949	7.057000|7.057000	0.76669|0.76669	2.620000|2.620000	0.88729|0.88729	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.348	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		83	122	0	0	0	1	0	83	122					A	134381807	G	A	134381807	3	1	21	1	0	0	0	0	1	0	0	0	12254	1058	37	1	257	1	POMT1	9	134381807	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1751114	134381807	6831624	403	1828										
POMT1	10585	broad.mit.edu	37	chr9	134382768	134382768	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tttccagaatacagtagcaaCgtgcctgtgtggtccctgcg	11	11	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:134382768C>T	ENST00000372228.3	+	5	473	c.294C>T	c.(292-294)aaC>aaT	p.N98N	POMT1_ENST00000419118.2_Intron|POMT1_ENST00000423007.1_Silent_p.N98N|POMT1_ENST00000404875.2_5'UTR|POMT1_ENST00000354713.4_Silent_p.N68N|POMT1_ENST00000402686.3_Silent_p.N98N|POMT1_ENST00000341012.7_Silent_p.N44N|POMT1_ENST00000541219.1_Intron	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	98					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)		ACAGTAGCAACGTGCCTGTGT	0.557																																						ENST00000423007.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31						c.(292-294)aaC>aaT		protein-O-mannosyltransferase 1							167	157	160					9																	134382768		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.chr9:134382768C>T	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.294C>T	9.37:g.134382768C>T			Somatic				POMT1_ENST00000419118.2_Intron|POMT1_ENST00000402686.3_Silent_p.N98N|POMT1_ENST00000372228.3_Silent_p.N98N|POMT1_ENST00000354713.4_Silent_p.N68N|POMT1_ENST00000404875.2_5'UTR|POMT1_ENST00000341012.7_Silent_p.N44N|POMT1_ENST00000541219.1_Intron	p.N98N	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)	5	736	+		Myeloproliferative disorder(178;0.204)	98					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	c.294C>T	CCDS6943.1																																																																																				0.557	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		54	80	0	0	0	1	0	54	80					T	134382768	C	T	134382768	2	4	21	1	0	0	0	0	0	0	0	1	12254	535	19	1		1	POMT1	9	134382768	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	961	134382768	6830663	404	1829										
C9orf98	158067	broad.mit.edu	37	chr9	135702409	135702409	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acggttctggatttcagattCgggtggccagtcaaaggtgg	15	7	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:135702409C>T	ENST00000298545.3	-	8	1110	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	197	Adenylate kinase 1.|LID 1. {ECO:0000250}.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.E197K(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						ATTTCAGATTCGGGTGGCCAG	0.542																																						ENST00000298545.3																			2	Substitution - Missense(2)	p.E197K(2)	large_intestine(2)	NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						c.(589-591)Gaa>Aaa		adenylate kinase 8							166	160	162					9																	135702409		2203	4300	6503	SO:0001583	missense	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135702409C>T	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"Adenylate kinases"	26526	protein-coding gene	gene with protein product		615365	"chromosome 9 open reading frame 98"	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.589G>A	9.37:g.135702409C>T	ENSP00000298545:p.Glu197Lys		Somatic				AK8_ENST00000477396.1_5'UTR	p.E197K	NM_152572.2	NP_689785.1	WXS	Illumina GAIIx	Phase_I	Q96MA6	KAD8_HUMAN			8	1110	-			197					A8K821|Q8N9W9	Missense_Mutation	SNP	ENST00000298545.3	37	c.589G>A	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059349	0.55325	.	.	ENSG00000165695	ENST00000298545	T	0.66815	-0.23	5.34	5.34	0.76211	Adenylate kinase, active site lid domain (1);	0.161652	0.52532	D	0.000070	T	0.66177	0.2763	M	0.62266	1.93	0.35699	D	0.815498	P	0.47841	0.901	B	0.41894	0.369	T	0.73104	-0.4088	10	0.30078	T	0.28	-26.0053	18.0257	0.89268	0.0:1.0:0.0:0.0	.	197	Q96MA6	KAD8_HUMAN	K	197	ENSP00000298545:E197K	ENSP00000298545:E197K	E	-	1	0	AK8	134692230	0.952000	0.32445	0.050000	0.19076	0.735000	0.41995	2.319000	0.43788	2.497000	0.84241	0.455000	0.32223	GAA		0.542	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		105	145	0	0	0	1	0	105	145					T	135702409	C	T	135702409	3	4	21	1	0	0	0	0	1	0	0	0	2511	893	31	1	874	1	C9orf98	9	135702409	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1319641	135702409	5511022	405	1830										
DBH	1621	broad.mit.edu	37	chr9	136508685	136508685	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcaactactgccgccacgtgCtggccgcctgggccctgggt	13	16	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:136508685C>A	ENST00000393056.2	+	4	907	c.895C>A	c.(895-897)Ctg>Atg	p.L299M		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	299					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)	CCGCCACGTGCTGGCCGCCTG	0.682																																						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.(895-897)Ctg>Atg		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						42	45	44					9																	136508685		2203	4299	6502	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.chr9:136508685C>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.895C>A	9.37:g.136508685C>A	ENSP00000376776:p.Leu299Met		Somatic					p.L299M	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)	4	907	+			299					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.895C>A	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800949	0.70567	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.36157	1.27;1.27	4.83	3.92	0.45320	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.000000	0.85682	D	0.000000	T	0.32556	0.0833	L	0.53617	1.68	0.47905	D	0.999549	B	0.28801	0.223	B	0.30943	0.122	T	0.18241	-1.0343	10	0.45353	T	0.12	-18.7354	9.1606	0.37021	0.0:0.8292:0.0:0.1708	.	299	P09172	DOPO_HUMAN	M	299;236;236	ENSP00000376776:L299M;ENSP00000263611:L236M	ENSP00000263611:L236M	L	+	1	2	DBH	135498506	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.203000	0.58453	2.216000	0.71823	0.505000	0.49811	CTG		0.682	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		33	56	1	0	6.86731e-36	1	7.72132e-36	33	56					A	136508685	C	A	136508685	3	1	21	1	0	0	0	0	1	0	0	0	4252	796	28	5	909	5	DBH	9	136508685	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	806276	136508685	4704746	406	1831										
SARDH	1757	broad.mit.edu	37	chr9	136595269	136595269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gccgcaccccaaaatcatccGtccacacacgaatgccggtc	7	18	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:136595269G>A	ENST00000371872.4	-	5	988	c.731C>T	c.(730-732)aCg>aTg	p.T244M	SARDH_ENST00000439388.1_Missense_Mutation_p.T244M|SARDH_ENST00000371867.1_Missense_Mutation_p.T155M|SARDH_ENST00000298628.5_Missense_Mutation_p.T244M|SARDH_ENST00000422262.2_Missense_Mutation_p.T76M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	244					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AAAATCATCCGTCCACACACG	0.587																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(730-732)aCg>aTg		sarcosine dehydrogenase							93	87	89					9																	136595269		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136595269G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.731C>T	9.37:g.136595269G>A	ENSP00000360938:p.Thr244Met		Somatic				SARDH_ENST00000439388.1_Missense_Mutation_p.T244M|SARDH_ENST00000298628.5_Missense_Mutation_p.T244M|SARDH_ENST00000371867.1_Missense_Mutation_p.T155M|SARDH_ENST00000422262.2_Missense_Mutation_p.T76M	p.T244M	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)	5	988	-			244					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.731C>T	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180608	0.78677	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	5.29	5.29	0.74685	FAD dependent oxidoreductase (1);	0.217568	0.47852	D	0.000216	D	0.85478	0.5706	L	0.50333	1.59	0.45554	D	0.998509	D	0.58970	0.984	P	0.57911	0.829	D	0.85637	0.1274	10	0.49607	T	0.09	-20.4417	18.929	0.92556	0.0:0.0:1.0:0.0	.	244	Q9UL12	SARDH_HUMAN	M	244;244;76;244;244;244;155;222;244	ENSP00000360938:T244M;ENSP00000403084:T244M;ENSP00000415537:T76M;ENSP00000360933:T155M;ENSP00000298628:T244M	ENSP00000298628:T244M	T	-	2	0	SARDH	135585090	0.880000	0.30214	0.941000	0.38009	0.899000	0.52679	3.575000	0.53870	2.463000	0.83235	0.591000	0.81541	ACG		0.587	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			33	55	0	0	0	1	0	33	55					A	136595269	G	A	136595269	3	1	21	1	0	0	0	0	1	0	0	0	13856	1145	40	1	2093	1	SARDH	9	136595269	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	86584	136595269	4618162	407	1832										
VAV2	7410	broad.mit.edu	37	chr9	136633624	136633626	+	In_Frame_Del	DEL	CAC	CAC	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccgatgcggctgtagatcctCaccacgtcaccctcccgcag							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:136633624_136633626delCAC	ENST00000371850.3	-	29	2558_2560	c.2527_2529delGTG	c.(2527-2529)gtgdel	p.V843del	VAV2_ENST00000371851.1_In_Frame_Del_p.V833del|VAV2_ENST00000406606.3_In_Frame_Del_p.V804del	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	843	SH3 2. {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)		TGTAGATCCTCACCACGTCACCC	0.65																																						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.(2497-2499)del		vav 2 guanine nucleotide exchange factor																																				SO:0001651	inframe_deletion	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.chr9:136633624_136633626delCAC		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.2527_2529delGTG	9.37:g.136633627_136633629delCAC	ENSP00000360916:p.Val843del		Somatic				VAV2_ENST00000406606.3_In_Frame_Del_p.V804del|VAV2_ENST00000371850.3_In_Frame_Del_p.V843del	p.V833del			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)	27	2822_2824	-			843			SH3 2.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	In_Frame_Del	DEL	ENST00000371850.3	37	c.2497_2499delGTG	CCDS48053.1																																																																																				0.65	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			36	83						36	83	---	---	---	---	-	136633626	CAC	-	136633624	7	5	21	1	0	1	0	1	0	0	0	0	17147	813	29	0	115	0	VAV2	9	136633624	In_Frame_Del	DEL	CAC	TCGA-N7-A4Y0-01A-12D-A28R-08	38355	136633624	4579807	408	1833										
COL5A1	1289	broad.mit.edu	37	chr9	137687154	137687154	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gggcatcactgggaagcctgGccccaaggtatgtttttggc	14	10	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:137687154G>C	ENST00000371817.3	+	34	3206	c.2792G>C	c.(2791-2793)gGc>gCc	p.G931A		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	931	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGAAGCCTGGCCCCAAGGTA	0.602																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2791-2793)gGc>gCc		collagen, type V, alpha 1							62	64	63					9																	137687154		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137687154G>C	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2792G>C	9.37:g.137687154G>C	ENSP00000360882:p.Gly931Ala		Somatic					p.G931A	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	WXS	Illumina GAIIx	Phase_I	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	34	3206	+		Myeloproliferative disorder(178;0.0341)	931			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2792G>C	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.736898	0.69304	.	.	ENSG00000130635	ENST00000371817	D	0.97066	-4.23	4.22	4.22	0.49857	.	0.000000	0.64402	U	0.000001	D	0.98858	0.9614	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99793	1.1032	10	0.87932	D	0	.	16.5867	0.84729	0.0:0.0:1.0:0.0	.	931	P20908	CO5A1_HUMAN	A	931	ENSP00000360882:G931A	ENSP00000360882:G931A	G	+	2	0	COL5A1	136826975	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	9.169000	0.94788	1.904000	0.55121	0.297000	0.19635	GGC		0.602	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		43	78	0	0	0	1	0	43	78					C	137687154	G	C	137687154	3	2	21	1	0	0	0	0	1	0	0	0	3698	1203	42	5	2926	5	COL5A1	9	137687154	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1053530	137687154	3526277	409	1834										
OLFM1	10439	broad.mit.edu	37	chr9	138011985	138011985	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggccaccagatcctctacaaCgtgaccctcttccacgtcat	6	17	3	2	rs370742908		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:138011985C>T	ENST00000371793.3	+	6	1670	c.1419C>T	c.(1417-1419)aaC>aaT	p.N473N	OLFM1_ENST00000371796.3_Silent_p.N446N|OLFM1_ENST00000252854.4_Silent_p.N455N	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	473	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)		TCCTCTACAACGTGACCCTCT	0.572																																						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.(1363-1365)aaC>aaT		olfactomedin 1		C		0,4406		0,0,2203	112	97	102		1365	0.3	1	9		102	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OLFM1	NM_014279.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		455/468	138011985	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:138011985C>T	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.1419C>T	9.37:g.138011985C>T			Somatic				OLFM1_ENST00000371793.3_Silent_p.N473N|OLFM1_ENST00000371796.3_Silent_p.N446N	p.N455N	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	1552	+		Myeloproliferative disorder(178;0.0333)	473			Olfactomedin-like.		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Silent	SNP	ENST00000371793.3	37	c.1365C>T																																																																																					0.572	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		23	43	0	0	0	1	0	23	43					T	138011985	C	T	138011985	2	4	21	1	0	0	0	0	0	0	0	1	10861	535	19	1		1	OLFM1	9	138011985	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	324831	138011985	3201446	410	1835										
MRPS2	51116	broad.mit.edu	37	chr9	138392884	138392884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggttgggctttctcgggaaGgcgaccccccggcctgctcg	15	14	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:138392884G>A	ENST00000371785.1	+	3	293	c.84G>A	c.(82-84)aaG>aaA	p.K28K	C9orf116_ENST00000371789.3_5'Flank|RP11-426A6.5_ENST00000415062.1_RNA|C9orf116_ENST00000371791.1_Intron|C9orf116_ENST00000429260.2_5'Flank|MRPS2_ENST00000241600.5_Silent_p.K28K|MRPS2_ENST00000488610.1_3'UTR			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	28					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		TTCTCGGGAAGGCGACCCCCC	0.711																																						ENST00000371785.1																			0				large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6						c.(82-84)aaG>aaA		mitochondrial ribosomal protein S2							11	14	13					9																	138392884		2171	4254	6425	SO:0001819	synonymous_variant	51116				translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome	g.chr9:138392884G>A	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"Mitochondrial ribosomal proteins / small subunits"	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.84G>A	9.37:g.138392884G>A			Somatic				MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Silent_p.K28K|C9orf116_ENST00000371791.1_Intron	p.K28K			WXS	Illumina GAIIx	Phase_I	Q9Y399	RT02_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)	3	293	+			28					Q5T899|Q9BSQ4	Silent	SNP	ENST00000371785.1	37	c.84G>A	CCDS6990.1																																																																																				0.711	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054998.1			17	25	0	0	0	1	0	17	25					A	138392884	G	A	138392884	2	1	21	1	0	0	0	0	0	0	0	1	9840	991	35	3		3	MRPS2	9	138392884	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	380899	138392884	2820547	411	1836										
QSOX2	169714	broad.mit.edu	37	chr9	139107074	139107074	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acagtttccagagagaacacGggtaacccctcaactcagat							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:139107074delG	ENST00000358701.5	-	10	1323	c.1286delC	c.(1285-1287)ccgfs	p.P429fs		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	429	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GAGAGAACACGGGTAACCCCT	0.458																																						ENST00000358701.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1285-1287)cgfs		quiescin Q6 sulfhydryl oxidase 2							113	95	101					9																	139107074		2203	4300	6503	SO:0001589	frameshift_variant	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139107074delG	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"quiescin Q6-like 1"	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1286delC	9.37:g.139107074delG	ENSP00000351536:p.Pro429fs		Somatic					p.P429fs	NM_181701.3	NP_859052.3	WXS	Illumina GAIIx	Phase_I	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	10	1323	-		Myeloproliferative disorder(178;0.0511)	429			ERV/ALR sulfhydryl oxidase.		A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Frame_Shift_Del	DEL	ENST00000358701.5	37	c.1286delC	CCDS35178.1																																																																																				0.458	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		17	43						17	43	---	---	---	---	-	139107074	G	-	139107074	7	5	21	1	0	1	0	1	0	0	0	0	12899	1116	39	0	822	0	QSOX2	9	139107074	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	714190	139107074	2106357	412	1837										
SNAPC4	6621	broad.mit.edu	37	chr9	139273254	139273254	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agagatctggccggggcccaGggcaggggcttgggaagcag	20	9	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:139273254G>T	ENST00000298532.2	-	21	3393	c.3025C>A	c.(3025-3027)Ctg>Atg	p.L1009M		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCGGGGCCCAGGGCAGGGGCT	0.682																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(3025-3027)Ctg>Atg		small nuclear RNA activating complex, polypeptide 4, 190kDa							9	13	12					9																	139273254		2181	4278	6459	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139273254G>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.3025C>A	9.37:g.139273254G>T	ENSP00000298532:p.Leu1009Met		Somatic					p.L1009M	NM_003086.2	NP_003077.2	WXS	Illumina GAIIx	Phase_I	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	21	3393	-		Myeloproliferative disorder(178;0.0511)	1009			Pro-rich.			Missense_Mutation	SNP	ENST00000298532.2	37	c.3025C>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606886	0.28623	.	.	ENSG00000165684	ENST00000298532	T	0.25749	1.78	3.12	1.18	0.20946	.	6.235870	0.00669	U	0.000629	T	0.40979	0.1139	L	0.48642	1.525	0.09310	N	1	D	0.69078	0.997	D	0.63597	0.916	T	0.10917	-1.0609	10	0.35671	T	0.21	-0.1363	6.0572	0.19819	0.3967:0.0:0.6033:0.0	.	1009	Q5SXM2	SNPC4_HUMAN	M	1009	ENSP00000298532:L1009M	ENSP00000298532:L1009M	L	-	1	2	SNAPC4	138393075	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-0.174000	0.09839	0.066000	0.16515	0.462000	0.41574	CTG		0.682	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		11	21	1	0	0.00010058	1	0.000102688	11	21					T	139273254	G	T	139273254	3	4	21	1	0	0	0	0	1	0	0	0	14852	991	35	5	1392	5	SNAPC4	9	139273254	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	166180	139273254	1940177	413	1838										
NOTCH1	4851	broad.mit.edu	37	chr9	139418329	139418329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctgcaggcatagtctgccacGcctctgcggtccaccacgtg	11	16	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:139418329G>A	ENST00000277541.6	-	3	318	c.243C>T	c.(241-243)ggC>ggT	p.G81G	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	81	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGTCTGCCACGCCTCTGCGGT	0.697			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(241-243)ggC>ggT		notch 1							22	32	29					9																	139418329		2144	4240	6384	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139418329G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.243C>T	9.37:g.139418329G>A		HNSCC(8;0.001)	Somatic				NOTCH1_ENST00000491649.1_5'UTR	p.G81G	NM_017617.3	NP_060087.3	WXS	Illumina GAIIx	Phase_I	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	3	318	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	81			EGF-like 2.		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.243C>T	CCDS43905.1																																																																																				0.697	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		13	11	0	0	0	1	0	13	11					A	139418329	G	A	139418329	2	1	21	1	0	0	0	0	0	0	0	1	10556	1074	38	1		1	NOTCH1	9	139418329	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	145075	139418329	1795102	414	1839										
FBXW5	54461	broad.mit.edu	37	chr9	139836499	139836499	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	catggcggcaggggtgtaccGatctggtgtggggagtaggt	20	6	1	0	rs557711640		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:139836499G>A	ENST00000325285.3	-	6	1174	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	365					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGGGTGTACCGATCTGGTGTG	0.662													G|||	1	0.000199681	0	0	5008	,	,		16020	0		0	False		,,,				2504	0.001					ENST00000325285.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.e6+1		F-box and WD repeat domain containing 5							92	104	100					9																	139836499		2194	4298	6492	SO:0001630	splice_region_variant	54461						catalytic activity|protein binding	g.chr9:139836499G>A	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"F-boxes / WD-40 domains", "WD repeat domain containing"	13613	protein-coding gene	gene with protein product		609072	"F-box and WD-40 domain protein 5"				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1096+1C>T	9.37:g.139836499G>A			Somatic				FBXW5_ENST00000483559.1_5'UTR	p.I365_splice	NM_018998.3	NP_061871.1	WXS	Illumina GAIIx	Phase_I	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	6	1174	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	365					B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Splice_Site	SNP	ENST00000325285.3	37	c.1096_splice	CCDS7014.1																																																																																				0.662	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998	Silent	8	18	0	0	0	1	0	8	18					A	139836499	G	A	139836499	5	1	21	1	0	0	0	0	0	0	1	0	5776	1072	37	1	621	1	FBXW5	9	139836499	Splice_Site	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	418170	139836499	1376932	415	1840										
NPDC1	56654	broad.mit.edu	37	chr9	139935633	139935633	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccagtctgggctggggccggCccccgcctggggagggtgag							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:139935633delC	ENST00000371601.4	-	3	479	c.266delG	c.(265-267)ggcfs	p.G89fs	NPDC1_ENST00000488145.1_5'UTR|NPDC1_ENST00000371600.3_Frame_Shift_Del_p.G167fs	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	89						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)		CTGGGGCCGGCCCCCGCCTGG	0.687																																						ENST00000371600.3																			0				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(499-501)gcfs		neural proliferation, differentiation and control, 1							22	19	20					9																	139935633		2067	4086	6153	SO:0001589	frameshift_variant	56654					integral to membrane		g.chr9:139935633delC	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.266delG	9.37:g.139935633delC	ENSP00000360660:p.Gly89fs		Somatic				NPDC1_ENST00000371601.4_Frame_Shift_Del_p.G89fs|NPDC1_ENST00000488145.1_5'UTR	p.G167fs			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	1172	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	89			Pro/Ser/Thr-rich.		Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Frame_Shift_Del	DEL	ENST00000371601.4	37	c.500delG	CCDS7024.1																																																																																				0.687	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055182.1	NM_015392		4	3						4	3	---	---	---	---	-	139935633	C	-	139935633	7	5	21	1	0	1	0	1	0	0	0	0	10582	739	26	0	739	0	NPDC1	9	139935633	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	99134	139935633	1277798	416	1841										
EXD3	54932	broad.mit.edu	37	chr9	140243587	140243587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgggtgcggccggtgctgacGctttctgcaggccgggtggc	19	11	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:140243587G>A	ENST00000340951.4	-	16	2000	c.1805C>T	c.(1804-1806)gCg>gTg	p.A602V	EXD3_ENST00000342129.4_Missense_Mutation_p.A282V	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CGGTGCTGACGCTTTCTGCAG	0.667																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(1804-1806)gCg>gTg		exonuclease 3'-5' domain containing 3							17	22	20					9																	140243587		1980	4150	6130	SO:0001583	missense	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140243587G>A		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1805C>T	9.37:g.140243587G>A	ENSP00000340474:p.Ala602Val		Somatic				EXD3_ENST00000342129.4_Missense_Mutation_p.A282V	p.A602V	NM_017820.3	NP_060290.3	WXS	Illumina GAIIx	Phase_I	Q8N9H8	MUT7_HUMAN			16	2000	-			602					Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	c.1805C>T	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	g	2.150	-0.394607	0.04899	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.63913	-0.07;0.63	3.35	1.35	0.21983	.	2.216530	0.02315	U	0.072500	T	0.44286	0.1286	L	0.32530	0.975	0.09310	N	1	P;P	0.43477	0.808;0.48	B;B	0.29598	0.104;0.02	T	0.38757	-0.9646	10	0.31617	T	0.26	.	4.8371	0.13469	0.1322:0.223:0.6448:0.0	.	282;602	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	V	282;602	ENSP00000343705:A282V;ENSP00000340474:A602V	ENSP00000340474:A602V	A	-	2	0	EXD3	139363408	0.005000	0.15991	0.014000	0.15608	0.006000	0.05464	0.313000	0.19415	0.195000	0.20347	0.430000	0.28490	GCG		0.667	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		10	12	0	0	0	1	0	10	12					A	140243587	G	A	140243587	3	1	21	1	0	0	0	0	1	0	0	0	5301	1087	38	1	853	1	EXD3	9	140243587	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	307954	140243587	969844	417	1842										
LARP4B	23185	broad.mit.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agataagcagaattccaatgTttttttaagtacttctcggg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:890939delT	ENST00000316157.3	-	5	527	c.487delA	c.(487-489)acafs	p.T163fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	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)	p.T163P(1)		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						AATTCCAATGTTTTTTTAAGT	0.353																																						ENST00000316157.3																			1	Substitution - Missense(1)	p.T163P(1)	large_intestine(1)	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.(487-489)cafs		La ribonucleoprotein domain family, member 4B							127	120	122					10																	890939		2203	4300	6503	SO:0001589	frameshift_variant	23185						nucleotide binding|RNA binding	g.chr10:890939delT	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.487delA	10.37:g.890939delT	ENSP00000326128:p.Thr163fs		Somatic					p.T163fs	NM_015155.1	NP_055970.1	WXS	Illumina GAIIx	Phase_I	Q92615	LAR4B_HUMAN			5	527	-			163			HTH La-type RNA-binding.		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Frame_Shift_Del	DEL	ENST00000316157.3	37	c.487delA	CCDS31131.1																																																																																				0.353	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		52	64						52	64	---	---	---	---	-	890939	T	-	890939	7	5	21	1	0	1	0	1	0	0	0	0	8640	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08		890939	134643808	418	1843										
NET1	10276	broad.mit.edu	37	chr10	5494824	5494824	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttgctggatgtttttaggcaAtatatgaaatgtcccgaggt	11	5	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:5494824A>G	ENST00000355029.4	+	6	677	c.535A>G	c.(535-537)Ata>Gta	p.I179V	NET1_ENST00000380359.3_Missense_Mutation_p.I125V|NET1_ENST00000542715.1_5'UTR	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	179	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						TTTTTAGGCAATATATGAAAT	0.323																																						ENST00000355029.4																			0				breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(535-537)Ata>Gta		neuroepithelial cell transforming 1							93	96	95					10																	5494824		2203	4300	6503	SO:0001583	missense	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5494824A>G	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.535A>G	10.37:g.5494824A>G	ENSP00000347134:p.Ile179Val		Somatic				NET1_ENST00000380359.3_Missense_Mutation_p.I125V|NET1_ENST00000542715.1_5'UTR	p.I179V	NM_001047160.1	NP_001040625.1	WXS	Illumina GAIIx	Phase_I	Q7Z628	ARHG8_HUMAN			6	677	+			179			DH.		Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	c.535A>G	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582974	0.86748	.	.	ENSG00000173848	ENST00000355029;ENST00000380359	T;T	0.66099	-0.19;-0.19	6.07	6.07	0.98685	Dbl homology (DH) domain (5);	0.000000	0.46758	D	0.000267	T	0.81669	0.4871	M	0.87900	2.915	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.73708	0.981;0.981	D	0.84883	0.0832	10	0.87932	D	0	-21.0565	15.4529	0.75290	1.0:0.0:0.0:0.0	.	125;179	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	V	179;125	ENSP00000347134:I179V;ENSP00000369717:I125V	ENSP00000347134:I179V	I	+	1	0	NET1	5484824	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.268000	0.95675	2.326000	0.78906	0.533000	0.62120	ATA		0.323	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		9	73	0	0	0	1	0	9	73					G	5494824	A	G	5494824	3	3	21	1	0	0	0	0	1	0	0	0	10347	101	4	4	654	4	NET1	10	5494824	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	4603885	5494824	130039923	419	1844										
RBM17	84991	broad.mit.edu	37	chr10	6139070	6139070	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggagtggagaccagtgactcAaaaacagaaggctggtccaa							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:6139070delA	ENST00000446108.1	+	2	686	c.42delA	c.(40-42)tcafs	p.S14fs	RBM17_ENST00000379888.4_Frame_Shift_Del_p.S14fs	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	14					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						CCAGTGACTCAAAAACAGAAG	0.463																																						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.(40-42)tcfs		RNA binding motif protein 17							105	105	105					10																	6139070		2203	4300	6503	SO:0001589	frameshift_variant	84991				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr10:6139070delA	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.42delA	10.37:g.6139070delA	ENSP00000388638:p.Ser14fs		Somatic				RBM17_ENST00000379888.4_Frame_Shift_Del_p.S14fs	p.S14fs	NM_001145547.1	NP_001139019.1	WXS	Illumina GAIIx	Phase_I	Q96I25	SPF45_HUMAN			2	686	+			14					Q96GY6	Frame_Shift_Del	DEL	ENST00000446108.1	37	c.42delA	CCDS7077.1																																																																																				0.463	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905		54	127						54	127	---	---	---	---	-	6139070	A	-	6139070	7	5	21	1	0	1	0	1	0	0	0	0	13134	117	5	0	44	0	RBM17	10	6139070	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	644246	6139070	129395677	420	1845										
NUDT5	11164	broad.mit.edu	37	chr10	12214859	12214859	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttgacaagcctgggtccataCagaccgctgtggagagaagg	14	9	0	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:12214859C>T	ENST00000491614.1	-	7	787	c.392G>A	c.(391-393)tGt>tAt	p.C131Y	NUDT5_ENST00000378927.3_Missense_Mutation_p.C131Y|NUDT5_ENST00000378940.3_Missense_Mutation_p.C131Y|NUDT5_ENST00000378937.3_Missense_Mutation_p.C144Y|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000537776.1_Missense_Mutation_p.C131Y			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	131	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				TGGGTCCATACAGACCGCTGT	0.507																																						ENST00000491614.1																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(391-393)tGt>tAt		nudix (nucleoside diphosphate linked moiety X)-type motif 5							195	137	157					10																	12214859		2203	4300	6503	SO:0001583	missense	11164				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding	g.chr10:12214859C>T	AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"Nudix motif containing"	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.392G>A	10.37:g.12214859C>T	ENSP00000419628:p.Cys131Tyr		Somatic				NUDT5_ENST00000537776.1_Missense_Mutation_p.C131Y|NUDT5_ENST00000378940.3_Missense_Mutation_p.C131Y|NUDT5_ENST00000378927.3_Missense_Mutation_p.C131Y|NUDT5_ENST00000378937.3_Missense_Mutation_p.C144Y|NUDT5_ENST00000378952.3_5'UTR	p.C131Y			WXS	Illumina GAIIx	Phase_I	Q9UKK9	NUDT5_HUMAN			7	787	-		Renal(717;0.228)	131			Nudix hydrolase.		A8K516|Q6IAG0|Q9UH49	Missense_Mutation	SNP	ENST00000491614.1	37	c.392G>A	CCDS7089.1	.	.	.	.	.	.	.	.	.	.	C	7.050	0.564231	0.13498	.	.	ENSG00000165609	ENST00000491614;ENST00000378929;ENST00000378937;ENST00000537776;ENST00000378940;ENST00000378927	T;T;T;T;T	0.05199	3.48;3.48;3.48;3.48;3.48	5.78	5.78	0.91487	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.041338	0.85682	D	0.000000	T	0.07369	0.0186	N	0.01686	-0.76	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.72075	0.976;0.947	T	0.52997	-0.8500	10	0.06891	T	0.86	-8.3485	18.2009	0.89838	0.0:1.0:0.0:0.0	.	131;131	A6NCQ0;Q9UKK9	.;NUDT5_HUMAN	Y	131;131;144;131;131;131	ENSP00000419628:C131Y;ENSP00000368219:C144Y;ENSP00000445116:C131Y;ENSP00000368222:C131Y;ENSP00000368209:C131Y	ENSP00000368209:C131Y	C	-	2	0	NUDT5	12254865	1.000000	0.71417	0.950000	0.38849	0.131000	0.20780	6.102000	0.71486	2.729000	0.93468	0.650000	0.86243	TGT		0.507	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			17	25	0	0	0	1	0	17	25					T	12214859	C	T	12214859	3	4	21	1	0	0	0	0	1	0	0	0	10751	478	17	3	283	3	NUDT5	10	12214859	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	6075789	12214859	123319888	421	1846										
CUBN	8029	broad.mit.edu	37	chr10	17126304	17126304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gagaactgtcactctggcatTgcagctccacgtgggtgaag	13	10	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:17126304T>C	ENST00000377833.4	-	17	2332	c.2267A>G	c.(2266-2268)cAa>cGa	p.Q756R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	756	CUB 3. {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)	ACTCTGGCATTGCAGCTCCAC	0.443																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(2266-2268)cAa>cGa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						166	154	158					10																	17126304		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.chr10:17126304T>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2267A>G	10.37:g.17126304T>C	ENSP00000367064:p.Gln756Arg		Somatic					p.Q756R	NM_001081.3	NP_001072.2	WXS	Illumina GAIIx	Phase_I	O60494	CUBN_HUMAN			17	2332	-			756			CUB 3.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.2267A>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.013758	0.35511	.	.	ENSG00000107611	ENST00000377833	T	0.27890	1.64	5.69	4.35	0.52113	CUB (5);	0.156867	0.29515	N	0.011940	T	0.20210	0.0486	N	0.17082	0.46	0.80722	D	1	B	0.25390	0.125	B	0.27380	0.079	T	0.05131	-1.0904	10	0.72032	D	0.01	.	9.6375	0.39819	0.0:0.098:0.0:0.902	.	756	O60494	CUBN_HUMAN	R	756	ENSP00000367064:Q756R	ENSP00000367064:Q756R	Q	-	2	0	CUBN	17166310	1.000000	0.71417	0.776000	0.31678	0.234000	0.25298	4.527000	0.60573	0.981000	0.38548	0.533000	0.62120	CAA		0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		38	41	0	0	0	1	0	38	41					C	17126304	T	C	17126304	3	2	21	1	0	0	0	0	1	0	0	0	4053	1812	63	4	8808	4	CUBN	10	17126304	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	4911445	17126304	118408443	422	1847										
CACNB2	783	broad.mit.edu	37	chr10	18787305	18787305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caaagcccgttgcatttgcgGttcggacaaatgtcagctac	10	11	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:18787305G>A	ENST00000324631.7	+	4	415	c.355G>A	c.(355-357)Gtt>Att	p.V119I	CACNB2_ENST00000377329.4_Missense_Mutation_p.V65I|CACNB2_ENST00000377319.3_Missense_Mutation_p.V64I|CACNB2_ENST00000282343.8_Missense_Mutation_p.V91I|CACNB2_ENST00000377328.1_Missense_Mutation_p.V119I|CACNB2_ENST00000352115.6_Missense_Mutation_p.V119I|CACNB2_ENST00000396576.2_Missense_Mutation_p.V64I|CACNB2_ENST00000377331.2_Missense_Mutation_p.V91I|CACNB2_ENST00000377315.4_Missense_Mutation_p.V71I	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	119	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCATTTGCGGTTCGGACAAA	0.448																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(190-192)Gtt>Att		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						120	105	110					10																	18787305		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18787305G>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.355G>A	10.37:g.18787305G>A	ENSP00000320025:p.Val119Ile		Somatic				CACNB2_ENST00000377331.2_Missense_Mutation_p.V91I|CACNB2_ENST00000377319.3_Missense_Mutation_p.V64I|CACNB2_ENST00000377328.1_Missense_Mutation_p.V119I|CACNB2_ENST00000377329.4_Missense_Mutation_p.V65I|CACNB2_ENST00000352115.6_Missense_Mutation_p.V119I|CACNB2_ENST00000324631.7_Missense_Mutation_p.V119I|CACNB2_ENST00000377315.4_Missense_Mutation_p.V71I|CACNB2_ENST00000282343.8_Missense_Mutation_p.V91I	p.V64I	NM_000724.3	NP_000715.2	WXS	Illumina GAIIx	Phase_I	Q08289	CACB2_HUMAN			3	691	+			119					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.190G>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708156	0.89018	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;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;-2.31	5.73	5.73	0.89815	Src homology-3 domain (3);	0.000000	0.85682	D	0.000000	D	0.94991	0.8379	M	0.89840	3.065	0.80722	D	1	D;D;P;P;B;D;P;D;D;D;D;D;D;D;D;B	0.76494	0.998;0.994;0.874;0.587;0.283;0.994;0.52;0.997;0.96;0.992;0.999;0.999;0.96;0.999;0.997;0.283	D;D;D;P;P;D;P;D;D;D;D;D;D;D;D;P	0.81914	0.995;0.97;0.916;0.849;0.47;0.978;0.745;0.976;0.995;0.993;0.994;0.995;0.995;0.994;0.973;0.47	D	0.95095	0.8225	10	0.62326	D	0.03	-14.4168	19.8949	0.96954	0.0:0.0:1.0:0.0	.	71;71;65;65;91;119;71;65;65;75;64;91;91;119;119;119	B7Z1U5;B7Z2U3;Q5QJ99;Q6TME0;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	I	119;119;119;91;91;64;64;65;71	ENSP00000320025:V119I;ENSP00000344474:V119I;ENSP00000366545:V119I;ENSP00000282343:V91I;ENSP00000366548:V91I;ENSP00000379821:V64I;ENSP00000366536:V64I;ENSP00000366546:V65I;ENSP00000366532:V71I	ENSP00000282343:V91I	V	+	1	0	CACNB2	18827311	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.869000	0.99810	2.704000	0.92352	0.650000	0.86243	GTT		0.448	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		20	32	0	0	0	1	0	20	32					A	18787305	G	A	18787305	3	1	21	1	0	0	0	0	1	0	0	0	2555	1261	44	3	589	3	CACNB2	10	18787305	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1661001	18787305	116747442	423	1848										
KIAA1217	56243	broad.mit.edu	37	chr10	24831988	24831988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aactattcccaggaaactgtGcctaaggccagtttcggttt	9	10	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:24831988G>A	ENST00000376454.3	+	19	3819	c.3789G>A	c.(3787-3789)gtG>gtA	p.V1263V	KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376451.2_Silent_p.V946V	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1263					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGGAAACTGTGCCTAAGGCCA	0.383																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2836-2838)gtG>gtA		KIAA1217							36	37	37					10																	24831988		2201	4300	6501	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24831988G>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.3789G>A	10.37:g.24831988G>A			Somatic				KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376454.3_Silent_p.V1263V	p.V946V			WXS	Illumina GAIIx	Phase_I	Q5T5P2	SKT_HUMAN			14	3098	+			1263					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.2838G>A	CCDS31165.1																																																																																				0.383	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		36	29	0	0	0	1	0	36	29					A	24831988	G	A	24831988	2	1	21	1	0	0	0	0	0	0	0	1	8225	1306	46	3		3	KIAA1217	10	24831988	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	6044683	24831988	110702759	424	1849										
KIAA1217	56243	broad.mit.edu	37	chr10	24832391	24832391	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctgtccaggttctttccagtGgggaggtgcatgatattgtt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:24832391delG	ENST00000376454.3	+	19	4222	c.4192delG	c.(4192-4194)gggfs	p.G1398fs	KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376451.2_Frame_Shift_Del_p.G1081fs	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1398					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCTTTCCAGTGGGGAGGTGCA	0.458																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(3241-3243)ggfs		KIAA1217							92	91	92					10																	24832391		2203	4300	6503	SO:0001589	frameshift_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24832391delG	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.4192delG	10.37:g.24832391delG	ENSP00000365637:p.Gly1398fs		Somatic				KIAA1217_ENST00000376454.3_Frame_Shift_Del_p.G1398fs|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron	p.G1081fs			WXS	Illumina GAIIx	Phase_I	Q5T5P2	SKT_HUMAN			14	3501	+			1398					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Frame_Shift_Del	DEL	ENST00000376454.3	37	c.3241delG	CCDS31165.1																																																																																				0.458	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		41	54						41	54	---	---	---	---	-	24832391	G	-	24832391	7	5	21	1	0	1	0	1	0	0	0	0	8225	1348	47	0	4266	0	KIAA1217	10	24832391	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	403	24832391	110702356	425	1850										
ARHGAP21	57584	broad.mit.edu	37	chr10	24874838	24874838	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctgcccagtgtctcactttcTtttttggactcctctttagt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:24874838delT	ENST00000396432.2	-	26	4866	c.4380delA	c.(4378-4380)aaafs	p.K1460fs		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1459					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						TCTCACTTTCTTTTTTGGACT	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.(4378-4380)aafs		Rho GTPase activating protein 21							147	145	146					10																	24874838		2203	4297	6500	SO:0001589	frameshift_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874838delT	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.4380delA	10.37:g.24874838delT	ENSP00000379709:p.Lys1460fs		Somatic					p.K1460fs	NM_020824.3	NP_065875.3	WXS	Illumina GAIIx	Phase_I	Q5T5U3	RHG21_HUMAN			26	4866	-			1459					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Frame_Shift_Del	DEL	ENST00000396432.2	37	c.4380delA	CCDS7144.2																																																																																				0.393	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		70	129						70	129	---	---	---	---	-	24874838	T	-	24874838	7	5	21	1	0	1	0	1	0	0	0	0	871	1606	56	0	1500	0	ARHGAP21	10	24874838	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	42447	24874838	110659909	426	1851										
GPR158	57512	broad.mit.edu	37	chr10	25464418	25464418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctgggattgggagctgttggCgccagccgcgacccccaagg	16	13	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:25464418C>T	ENST00000376351.3	+	1	428	c.69C>T	c.(67-69)ggC>ggT	p.G23G	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	23					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						GAGCTGTTGGCGCCAGCCGCG	0.667																																						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.(67-69)ggC>ggT		G protein-coupled receptor 158							31	38	36					10																	25464418		2196	4285	6481	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25464418C>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.69C>T	10.37:g.25464418C>T			Somatic				GPR158-AS1_ENST00000449643.1_RNA	p.G23G	NM_020752.2	NP_065803.2	WXS	Illumina GAIIx	Phase_I	Q5T848	GP158_HUMAN			1	428	+			23					Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.69C>T	CCDS31166.1																																																																																				0.667	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		35	92	0	0	0	1	0	35	92					T	25464418	C	T	25464418	2	4	21	1	0	0	0	0	0	0	0	1	6671	755	27	1		1	GPR158	10	25464418	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	589580	25464418	110070329	427	1852										
GPR158	57512	broad.mit.edu	37	chr10	25861746	25861746	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cagatttcacttattggccaGgggaaaacatccgatcacct					rs138208272		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:25861746delG	ENST00000376351.3	+	7	2042	c.1683delG	c.(1681-1683)cagfs	p.Q561fs		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	561					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						TTATTGGCCAGGGGAAAACAT	0.453																																						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.(1681-1683)cafs		G protein-coupled receptor 158							192	143	159					10																	25861746		2203	4300	6503	SO:0001589	frameshift_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25861746delG	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.1683delG	10.37:g.25861746delG	ENSP00000365529:p.Gln561fs		Somatic					p.Q561fs	NM_020752.2	NP_065803.2	WXS	Illumina GAIIx	Phase_I	Q5T848	GP158_HUMAN			7	2042	+			561					Q6QR81|Q9ULT3	Frame_Shift_Del	DEL	ENST00000376351.3	37	c.1683delG	CCDS31166.1																																																																																				0.453	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		24	41						24	41	---	---	---	---	-	25861746	G	-	25861746	7	5	21	1	0	1	0	1	0	0	0	0	6671	991	35	0	1709	0	GPR158	10	25861746	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	397328	25861746	109673001	428	1853										
MYO3A	53904	broad.mit.edu	37	chr10	26436415	26436415	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agagacactcttcctactgaCattgtgctacttttgaggtc	8	10	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:26436415C>T	ENST00000265944.5	+	23	2728	c.2562C>T	c.(2560-2562)gaC>gaT	p.D854D	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	854	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTCCTACTGACATTGTGCTAC	0.393																																						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.(2560-2562)gaC>gaT		myosin IIIA							215	179	191					10																	26436415		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.chr10:26436415C>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.2562C>T	10.37:g.26436415C>T			Somatic				MYO3A_ENST00000543632.1_Intron	p.D854D	NM_017433.4	NP_059129.3	WXS	Illumina GAIIx	Phase_I	Q8NEV4	MYO3A_HUMAN			23	2728	+			854			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.2562C>T	CCDS7148.1																																																																																				0.393	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		34	75	0	0	0	1	0	34	75					T	26436415	C	T	26436415	2	4	21	1	0	0	0	0	0	0	0	1	10085	477	17	3		3	MYO3A	10	26436415	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	574669	26436415	109098332	429	1854										
ACBD5	91452	broad.mit.edu	37	chr10	27494154	27494154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtgggctgaggagcagtctgCaatgttgatgttgatgattt	15	4	1	4			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:27494154C>T	ENST00000375888.1	-	11	1519	c.1455G>A	c.(1453-1455)ttG>ttA	p.L485L	ACBD5_ENST00000375897.3_Silent_p.L299L|ACBD5_ENST00000375905.4_Silent_p.L441L|ACBD5_ENST00000375901.1_Silent_p.L367L|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000396271.3_Silent_p.L476L			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	485					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						GAGCAGTCTGCAATGTTGATG	0.313																																						ENST00000396271.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(1426-1428)ttG>ttA		acyl-CoA binding domain containing 5							135	136	135					10																	27494154		2203	4300	6503	SO:0001819	synonymous_variant	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27494154C>T	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.1455G>A	10.37:g.27494154C>T			Somatic				ACBD5_ENST00000375905.4_Silent_p.L441L|ACBD5_ENST00000375901.1_Silent_p.L367L|ACBD5_ENST00000375897.3_Silent_p.L299L|ACBD5_ENST00000375888.1_Silent_p.L485L|ACBD5_ENST00000476758.1_5'UTR	p.L476L	NM_145698.3	NP_663736.2	WXS	Illumina GAIIx	Phase_I	Q5T8D3	ACBD5_HUMAN			11	1554	-			485					B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Silent	SNP	ENST00000375888.1	37	c.1428G>A																																																																																					0.313	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		34	63	0	0	0	1	0	34	63					T	27494154	C	T	27494154	2	4	21	1	0	0	0	0	0	0	0	1	125	709	25	3		3	ACBD5	10	27494154	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1057739	27494154	108040593	430	1855										
PTCHD3	374308	broad.mit.edu	37	chr10	27702951	27702951	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atcgtccagcatcgacggccGggggggtgcatcgtccccct					rs570928509	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:27702951delG	ENST00000438700.3	-	1	346	c.229delC	c.(229-231)cggfs	p.R77fs		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	77					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						ATCGACGGCCGGGGGGGTGCA	0.716													?|GGGGGGG|GGGGGG|unsure	4	0.000798722	0.0023	0.0014	5008	,	,		10313	0		0	False		,,,				2504	0					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.(229-231)ggfs		patched domain containing 3				18,29,4159		0,0,18,2,25,2058	23	30	28			-4.6	0	10		28	14,53,8073		0,0,14,0,53,4003	no	codingComplex	PTCHD3	NM_001034842.3		0,0,32,2,78,6061	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8231,1.1175,0.9234			27702951	32,82,12232	2191	4279	6470	SO:0001589	frameshift_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702951delG	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.229delC	10.37:g.27702951delG	ENSP00000417658:p.Arg77fs		Somatic					p.R77fs	NM_001034842.3	NP_001030014.2	WXS	Illumina GAIIx	Phase_I	Q3KNS1	PTHD3_HUMAN			1	346	-			77					I3L499|Q6ZU28	Frame_Shift_Del	DEL	ENST00000438700.3	37	c.229delC	CCDS31173.1																																																																																				0.716	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		7	99						7	99	---	---	---	---	-	27702951	G	-	27702951	7	5	21	1	0	1	0	1	0	0	0	0	12746	1115	39	0	2090	0	PTCHD3	10	27702951	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	208797	27702951	107831796	431	1856										
SVIL	6840	broad.mit.edu	37	chr10	29812587	29812587	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tttagattccttatggctgtCtccttccctggctcggttca	8	12	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:29812587C>A	ENST00000355867.4	-	15	3708	c.2956G>T	c.(2956-2958)Gac>Tac	p.D986Y	SVIL_ENST00000375398.2_Missense_Mutation_p.D986Y|SVIL_ENST00000375400.3_Missense_Mutation_p.D560Y|SVIL_ENST00000535393.1_5'Flank	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	986					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTATGGCTGTCTCCTTCCCTG	0.532																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(2956-2958)Gac>Tac		supervillin							129	115	120					10																	29812587		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29812587C>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2956G>T	10.37:g.29812587C>A	ENSP00000348128:p.Asp986Tyr		Somatic				SVIL_ENST00000375400.3_Missense_Mutation_p.D560Y|SVIL_ENST00000355867.4_Missense_Mutation_p.D986Y	p.D986Y			WXS	Illumina GAIIx	Phase_I	O95425	SVIL_HUMAN			17	3405	-		Breast(68;0.103)	986					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.2956G>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918790	0.33908	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.13307	2.6;2.63;2.63	4.94	4.04	0.47022	.	0.502787	0.23571	N	0.046746	T	0.31857	0.0810	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.931	T	0.02161	-1.1203	9	.	.	.	-13.8177	9.8319	0.40948	0.0:0.9034:0.0:0.0966	.	560;986	O95425-2;O95425	.;SVIL_HUMAN	Y	560;986;986	ENSP00000364549:D560Y;ENSP00000364547:D986Y;ENSP00000348128:D986Y	.	D	-	1	0	SVIL	29852593	0.423000	0.25482	0.341000	0.25589	0.066000	0.16364	1.944000	0.40263	1.210000	0.43336	0.563000	0.77884	GAC		0.532	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			37	58	1	0	1.36161e-19	1	1.50017e-19	37	58					A	29812587	C	A	29812587	3	1	21	1	0	0	0	0	1	0	0	0	15436	913	32	2	3784	2	SVIL	10	29812587	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2109636	29812587	105722160	432	1857										
SVIL	6840	broad.mit.edu	37	chr10	29822253	29822253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgctggggaccctatcaaagGctgagtgctcagactgaaat	12	9	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:29822253G>A	ENST00000355867.4	-	8	1795	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V	SVIL_ENST00000375398.2_Missense_Mutation_p.A348V|SVIL_ENST00000375400.3_Intron	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	348					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCTATCAAAGGCTGAGTGCTC	0.572																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(1042-1044)gCc>gTc		supervillin							97	82	87					10																	29822253		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29822253G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1043C>T	10.37:g.29822253G>A	ENSP00000348128:p.Ala348Val		Somatic				SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.A348V	p.A348V			WXS	Illumina GAIIx	Phase_I	O95425	SVIL_HUMAN			10	1492	-		Breast(68;0.103)	348					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.1043C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224361	0.79576	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.51325	0.71;0.71	5.85	5.85	0.93711	.	0.080450	0.51477	D	0.000094	T	0.53465	0.1798	M	0.64997	1.995	0.80722	D	1	P	0.44690	0.841	B	0.43754	0.43	T	0.50668	-0.8801	9	.	.	.	-15.1175	20.1577	0.98120	0.0:0.0:1.0:0.0	.	348	O95425	SVIL_HUMAN	V	348	ENSP00000364547:A348V;ENSP00000348128:A348V	.	A	-	2	0	SVIL	29862259	1.000000	0.71417	0.977000	0.42913	0.740000	0.42216	4.938000	0.63519	2.767000	0.95098	0.655000	0.94253	GCC		0.572	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			50	41	0	0	0	1	0	50	41					A	29822253	G	A	29822253	3	1	21	1	0	0	0	0	1	0	0	0	15436	1203	42	3	5725	3	SVIL	10	29822253	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	9666	29822253	105712494	433	1858										
ZNF22	7570	broad.mit.edu	37	chr10	45499133	45499133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcagcatcgacggatccataCgggggaaaagccctacaaat	10	11	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:45499133C>T	ENST00000298299.3	+	2	910	c.317C>T	c.(316-318)aCg>aTg	p.T106M	C10orf25_ENST00000298298.1_5'Flank|CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	106					odontogenesis (GO:0042476)|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(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				CGGATCCATACGGGGGAAAAG	0.418																																						ENST00000298299.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8						c.(316-318)aCg>aTg		zinc finger protein 22							61	61	61					10																	45499133		2203	4300	6503	SO:0001583	missense	7570				odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding	g.chr10:45499133C>T	BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"Zinc fingers, C2H2-type"	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.317C>T	10.37:g.45499133C>T	ENSP00000298299:p.Thr106Met		Somatic				CEP164P1_ENST00000456938.2_RNA	p.T106M	NM_006963.4	NP_008894.2	WXS	Illumina GAIIx	Phase_I	P17026	ZNF22_HUMAN			2	910	+		Prostate(175;0.0352)|all_neural(218;0.202)	106					Q5T741|Q96FM4	Missense_Mutation	SNP	ENST00000298299.3	37	c.317C>T	CCDS7211.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362498	0.61403	.	.	ENSG00000165512	ENST00000298299	T	0.26373	1.74	5.02	4.11	0.48088	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000109	T	0.50939	0.1645	M	0.79693	2.465	0.44745	D	0.997741	D	0.89917	1.0	D	0.68943	0.961	T	0.58244	-0.7670	10	0.87932	D	0	-26.9195	13.2942	0.60288	0.0:0.8399:0.1601:0.0	.	106	P17026	ZNF22_HUMAN	M	106	ENSP00000298299:T106M	ENSP00000298299:T106M	T	+	2	0	ZNF22	44819139	0.998000	0.40836	0.265000	0.24526	0.708000	0.40852	3.907000	0.56348	1.310000	0.45006	-0.165000	0.13383	ACG		0.418	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047761.1	NM_006963		24	60	0	0	0	1	0	24	60					T	45499133	C	T	45499133	3	4	21	1	0	0	0	0	1	0	0	0	17789	536	19	1	319	1	ZNF22	10	45499133	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	15676880	45499133	90035614	434	1859										
PARG	8505	broad.mit.edu	37	chr10	51069693	51069693	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtaagtgacatgcaatcgtgTcaagggtttttcacatctac	9	8	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:51069693T>C	ENST00000402038.3	-	8	690	c.691A>G	c.(691-693)Aca>Gca	p.T231A		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	716	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)			endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGCAATCGTGTCAAGGGTTTT	0.358																																						ENST00000402038.3																			0				endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(691-693)Aca>Gca		poly (ADP-ribose) glycohydrolase							30	39	36					10																	51069693		692	1581	2273	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51069693T>C	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.691A>G	10.37:g.51069693T>C	ENSP00000384408:p.Thr231Ala		Somatic					p.T231A	NM_003631.2	NP_003622.2	WXS	Illumina GAIIx	Phase_I	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	8	690	-			716					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.691A>G		.	.	.	.	.	.	.	.	.	.	T	11.62	1.693385	0.30052	.	.	ENSG00000227345	ENST00000402038	.	.	.	4.75	4.75	0.60458	.	0.083859	0.46758	U	0.000274	T	0.40694	0.1127	L	0.47716	1.5	.	.	.	P;P;P;B;B;P	0.42735	0.51;0.788;0.698;0.412;0.412;0.788	B;P;B;B;B;P	0.45167	0.228;0.472;0.257;0.17;0.238;0.472	T	0.46789	-0.9166	8	0.08381	T	0.77	-3.7512	9.299	0.37833	0.205:0.0:0.0:0.7949	.	634;716;267;231;256;716	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	A	231	.	ENSP00000384408:T231A	T	-	1	0	PARG	50739699	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.335000	0.52105	1.762000	0.52044	0.379000	0.24179	ACA		0.358	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		8	8	0	0	0	1	0	8	8					C	51069693	T	C	51069693	3	2	21	1	0	0	0	0	1	0	0	0	11457	1667	58	4	812	4	PARG	10	51069693	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	5570560	51069693	84465054	435	1860										
ANK3	288	broad.mit.edu	37	chr10	61832912	61832912	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccttcacagtcctgtccaccCtatcttcatatatcaacttc	2	16	4	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:61832912C>A	ENST00000280772.2	-	37	7918	c.7727G>T	c.(7726-7728)aGg>aTg	p.R2576M	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)	2576					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						CCTGTCCACCCTATCTTCATA	0.423																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(7726-7728)aGg>aTg		ankyrin 3, node of Ranvier (ankyrin G)							127	117	120					10																	61832912		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61832912C>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7727G>T	10.37:g.61832912C>A	ENSP00000280772:p.Arg2576Met		Somatic				ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.R2576M	NM_020987.3	NP_066267.2	WXS	Illumina GAIIx	Phase_I	Q12955	ANK3_HUMAN			37	7918	-			2576					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.7727G>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430746	0.62844	.	.	ENSG00000151150	ENST00000280772	T	0.74526	-0.85	5.47	5.47	0.80525	.	0.000000	0.47093	D	0.000245	D	0.84946	0.5585	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85817	0.1383	10	0.72032	D	0.01	.	19.3349	0.94312	0.0:1.0:0.0:0.0	.	2576	Q12955	ANK3_HUMAN	M	2576	ENSP00000280772:R2576M	ENSP00000280772:R2576M	R	-	2	0	ANK3	61502918	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.810000	0.86072	2.564000	0.86499	0.462000	0.41574	AGG		0.423	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		37	104	1	0	6.53348e-20	1	7.20737e-20	37	104					A	61832912	C	A	61832912	3	1	21	1	0	0	0	0	1	0	0	0	622	681	24	5	5747	5	ANK3	10	61832912	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	10763219	61832912	73701835	436	1861										
RTKN2	219790	broad.mit.edu	37	chr10	63995969	63995969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggttatagaagattcttctGtacagcaactatacacttcc	6	9	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:63995969G>A	ENST00000373789.3	-	6	638	c.542C>T	c.(541-543)aCa>aTa	p.T181I	RTKN2_ENST00000395265.1_Missense_Mutation_p.T181I|RTKN2_ENST00000315289.2_5'UTR	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	181					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AGATTCTTCTGTACAGCAACT	0.348																																						ENST00000373789.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(541-543)aCa>aTa		rhotekin 2							109	95	99					10																	63995969		2203	4299	6502	SO:0001583	missense	219790				signal transduction	intracellular		g.chr10:63995969G>A	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.542C>T	10.37:g.63995969G>A	ENSP00000362894:p.Thr181Ile		Somatic				RTKN2_ENST00000315289.2_5'UTR|RTKN2_ENST00000395265.1_Missense_Mutation_p.T181I	p.T181I	NM_145307.2	NP_660350.2	WXS	Illumina GAIIx	Phase_I	Q8IZC4	RTKN2_HUMAN			6	638	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		181					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	c.542C>T	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	G	8.077	0.771548	0.16051	.	.	ENSG00000182010	ENST00000395265;ENST00000373789	T;T	0.47177	0.85;0.85	5.56	2.72	0.32119	.	0.710584	0.14359	N	0.324597	T	0.27629	0.0679	N	0.12182	0.205	0.20307	N	0.999917	B	0.09022	0.002	B	0.08055	0.003	T	0.17289	-1.0374	10	0.30854	T	0.27	-0.2127	8.9962	0.36055	0.3561:0.0:0.6439:0.0	.	181	Q8IZC4	RTKN2_HUMAN	I	181	ENSP00000378682:T181I;ENSP00000362894:T181I	ENSP00000362894:T181I	T	-	2	0	RTKN2	63665975	0.345000	0.24835	0.993000	0.49108	0.971000	0.66376	0.614000	0.24314	0.306000	0.22856	0.491000	0.48974	ACA		0.348	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		18	41	0	0	0	1	0	18	41					A	63995969	G	A	63995969	3	1	21	1	0	0	0	0	1	0	0	0	13738	1377	48	3	1315	3	RTKN2	10	63995969	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2163057	63995969	71538778	437	1862										
LRRTM3	347731	broad.mit.edu	37	chr10	68686815	68686815	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaaggcaaaatggtatattgTgaatctcagaaattacagga	10	4	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:68686815T>C	ENST00000361320.4	+	2	719	c.141T>C	c.(139-141)tgT>tgC	p.C47C	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	47	LRRNT.				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						TGGTATATTGTGAATCTCAGA	0.423																																						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.(139-141)tgT>tgC		leucine rich repeat transmembrane neuronal 3							126	127	127					10																	68686815		2203	4300	6503	SO:0001819	synonymous_variant	347731					integral to membrane		g.chr10:68686815T>C	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.141T>C	10.37:g.68686815T>C			Somatic				CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	p.C47C	NM_178011.3	NP_821079.3	WXS	Illumina GAIIx	Phase_I	Q86VH5	LRRT3_HUMAN			2	719	+			47			LRRNT.		A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	ENST00000361320.4	37	c.141T>C	CCDS7270.1																																																																																				0.423	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		20	70	0	0	0	1	0	20	70					C	68686815	T	C	68686815	2	2	21	1	0	0	0	0	0	0	0	1	9050	1702	59	4		4	LRRTM3	10	68686815	Silent	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	4690846	68686815	66847932	438	1863										
C10orf54	64115	broad.mit.edu	37	chr10	73511467	73511467	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tccggggcctggaggagacaGgggggtgctgggctccgaaa							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:73511467delG	ENST00000394957.3	-	6	914	c.856delC	c.(856-858)ctgfs	p.L286fs	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	286					BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GGAGGAGACAGGGGGGTGCTG	0.617																																						ENST00000394957.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(856-858)tgfs		chromosome 10 open reading frame 54							43	47	45					10																	73511467		2203	4300	6503	SO:0001589	frameshift_variant	64115					integral to membrane	receptor activity	g.chr10:73511467delG	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"Immunoglobulin superfamily / V-set domain containing"	30085	protein-coding gene	gene with protein product	"stress induced secreted protein 1"	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.856delC	10.37:g.73511467delG	ENSP00000378409:p.Leu286fs		Somatic				CDH23_ENST00000224721.6_Intron	p.L286fs	NM_022153.1	NP_071436.1	WXS	Illumina GAIIx	Phase_I	Q9H7M9	GI24_HUMAN			6	914	-			286					A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Frame_Shift_Del	DEL	ENST00000394957.3	37	c.856delC	CCDS31218.1																																																																																				0.617	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048548.1	NM_022153		29	72						29	72	---	---	---	---	-	73511467	G	-	73511467	7	5	21	1	0	1	0	1	0	0	0	0	1609	991	35	0	87	0	C10orf54	10	73511467	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	4824652	73511467	62023280	439	1864										
MYOZ1	58529	broad.mit.edu	37	chr10	75393728	75393728	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caggtcaatgccaagttccaTtttttgctgggggtcaaccc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:75393728delT	ENST00000359322.4	-	5	962	c.598delA	c.(598-600)atgfs	p.M200fs	RP11-464F9.22_ENST00000609434.1_lincRNA	NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CCAAGTTCCATTTTTTGCTGG	0.517																																						ENST00000359322.4																			0				central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12						c.(598-600)tgfs		myozenin 1							133	126	128					10																	75393728		2203	4300	6503	SO:0001589	frameshift_variant	58529				myofibril assembly	nucleus|pseudopodium	FATZ binding	g.chr10:75393728delT	AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"calsarcin-2"	605603	"myozenin"	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.598delA	10.37:g.75393728delT	ENSP00000352272:p.Met200fs		Somatic					p.M200fs	NM_021245.3	NP_067068.1	WXS	Illumina GAIIx	Phase_I	Q9NP98	MYOZ1_HUMAN			5	962	-	Prostate(51;0.0112)		200						Frame_Shift_Del	DEL	ENST00000359322.4	37	c.598delA	CCDS7330.1																																																																																				0.517	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1			47	141						47	141	---	---	---	---	-	75393728	T	-	75393728	7	5	21	1	0	1	0	1	0	0	0	0	10104	1493	52	0	309	0	MYOZ1	10	75393728	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1882261	75393728	60141019	440	1865										
KIAA0913	23053	broad.mit.edu	37	chr10	75550867	75550867	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cattgtgcgggagatgttcaAgcggagggacagcaatgctg	16	7	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:75550867A>G	ENST00000605216.1	+	8	1293	c.1076A>G	c.(1075-1077)aAg>aGg	p.K359R	ZSWIM8_ENST00000398706.2_Missense_Mutation_p.K359R|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.K359R|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.K359R|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.K359R	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	359							zinc ion binding (GO:0008270)										GAGATGTTCAAGCGGAGGGAC	0.607																																						ENST00000604729.1																			0											c.(1075-1077)aAg>aGg		zinc finger, SWIM-type containing 8							58	65	63					10																	75550867		2081	4206	6287	SO:0001583	missense	23053							g.chr10:75550867A>G	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.1076A>G	10.37:g.75550867A>G	ENSP00000474748:p.Lys359Arg		Somatic				ZSWIM8_ENST00000603114.1_Missense_Mutation_p.K359R|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.K359R|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.K359R|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.K359R	p.K359R			WXS	Illumina GAIIx	Phase_I					8	1373	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.1076A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.494|5.494	0.276233|0.276233	0.10403|0.10403	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000451629	T|.	0.72167|.	-0.63|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.184972|.	0.31673|.	U|.	0.007256|.	T|T	0.38134|0.38134	0.1029|0.1029	N|N	0.05306|0.05306	-0.075|-0.075	0.58432|0.58432	D|D	0.99999|0.99999	D;D;D|.	0.67145|.	0.996;0.996;0.996|.	D;D;D|.	0.76071|.	0.981;0.987;0.981|.	T|T	0.32929|0.32929	-0.9888|-0.9888	10|5	0.27082|.	T|.	0.32|.	-5.5838|-5.5838	15.5075|15.5075	0.75753|0.75753	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	359;359;359|.	A7E2V4;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.|.	R|G	359|162	ENSP00000381693:K359R|.	ENSP00000381693:K359R|.	K|S	+|+	2|1	0|0	KIAA0913|KIAA0913	75220873|75220873	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	8.701000|8.701000	0.91331|0.91331	2.250000|2.250000	0.74265|0.74265	0.482000|0.482000	0.46254|0.46254	AAG|AGC		0.607	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		23	65	0	0	0	1	0	23	65					G	75550867	A	G	75550867	3	3	21	1	0	0	0	0	1	0	0	0	8209	72	3	4	1106	4	KIAA0913	10	75550867	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	157139	75550867	59983880	441	1866										
DLG5	9231	broad.mit.edu	37	chr10	79552204	79552204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agcacagcattctcctagagCgggcaggctggaatccacag	12	12	1	1	rs148200124		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:79552204C>T	ENST00000372391.2	-	32	5759	c.5754G>A	c.(5752-5754)ccG>ccA	p.P1918P	DLG5_ENST00000372388.2_Silent_p.P1578P|DLG5_ENST00000459739.1_5'Flank|RP13-39P12.3_ENST00000601701.1_RNA|RP13-39P12.3_ENST00000434097.2_RNA	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1918					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)			TCTCCTAGAGCGGGCAGGCTG	0.532																																						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.(5752-5754)ccG>ccA		discs, large homolog 5 (Drosophila)							111	109	110					10																	79552204		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.chr10:79552204C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5754G>A	10.37:g.79552204C>T			Somatic				RP13-39P12.3_ENST00000434097.2_RNA|DLG5_ENST00000372388.2_Silent_p.P1578P	p.P1918P	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)		32	5759	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1918					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.5754G>A	CCDS7353.2																																																																																				0.532	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			69	148	0	0	0	1	0	69	148					T	79552204	C	T	79552204	2	4	21	1	0	0	0	0	0	0	0	1	4560	755	27	1		1	DLG5	10	79552204	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	4001337	79552204	55982543	442	1867										
PTEN	5728	broad.mit.edu	37	chr10	89692910	89692910	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aagctggaaagggacgaactGgtgtaatgatatgtgcatat	13	4	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:89692910G>A	ENST00000371953.3	+	5	1751	c.394G>A	c.(394-396)Ggt>Agt	p.G132S		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.G132S(3)|p.Y27fs*1(2)|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)		GGGACGAACTGGTGTAATGAT	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"		57	Whole gene deletion(37)|Deletion - Frameshift(11)|Unknown(5)|Substitution - Missense(3)|Deletion - In frame(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132S(3)|p.Y27fs*1(2)|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(13)|skin(6)|endometrium(5)|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.(394-396)Ggt>Agt		phosphatase and tensin homolog							137	128	131					10																	89692910		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.chr10:89692910G>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.394G>A	10.37:g.89692910G>A	ENSP00000361021:p.Gly132Ser	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic					p.G132S	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	1751	+		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.394G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937160	0.92458	.	.	ENSG00000171862	ENST00000371953	D	0.99541	-6.12	5.22	4.3	0.51218	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99718	0.9891	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97347	0.9961	9	.	.	.	-10.5526	15.1176	0.72416	0.0:0.0:0.8573:0.1427	.	132	P60484	PTEN_HUMAN	S	132	ENSP00000361021:G132S	.	G	+	1	0	PTEN	89682890	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.429000	0.97481	1.157000	0.42530	-0.182000	0.12963	GGT		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		122	79	0	0	0	1	0	122	79					A	89692910	G	A	89692910	3	1	21	1	0	0	0	0	1	0	0	0	12750	1348	47	3	412	3	PTEN	10	89692910	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	10140706	89692910	45841837	443	1868										
PTEN	5728	broad.mit.edu	37	chr10	89717674	89717675	+	Frame_Shift_Ins	INS	-	-	C													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccaattcaggacccacacgaINScgggaagacaagttcatgta							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:89717674_89717675insC	ENST00000371953.3	+	7	2056_2057	c.699_700insC	c.(700-702)cggfs	p.R234fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	234	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		R -> Q (in a patient with glioma and meningioma; not capable of inducing apoptosis; induced increased cell proliferation; led to high constitutive AKT1 activation which could not be increased further by stimulation with insulin).		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.R234fs*11(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R234fs*24(1)|p.G165_*404del(1)|p.?(1)|p.R234fs*10(1)|p.R233fs*10(1)|p.R234fs*27(1)|p.R234W(1)|p.R234fs*23(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R234fs*3(1)|p.R234fs*26(1)|p.R234fs*4(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)		GACCCACACGACGGGAAGACAA	0.416		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"		62	Whole gene deletion(37)|Deletion - Frameshift(10)|Insertion - Frameshift(6)|Complex - frameshift(6)|Deletion - In frame(1)|Unknown(1)|Substitution - Missense(1)	p.0?(37)|p.R55fs*1(5)|p.R234fs*11(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R234fs*24(1)|p.G165_*404del(1)|p.?(1)|p.R234fs*10(1)|p.R233fs*10(1)|p.R234fs*27(1)|p.R234W(1)|p.R234fs*23(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R234fs*3(1)|p.R234fs*26(1)|p.R234fs*4(1)	haematopoietic_and_lymphoid_tissue(16)|prostate(16)|central_nervous_system(10)|skin(6)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|vulva(1)|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.(697-702)cggggafs		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.chr10:89717674_89717675insC	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.700dupC	10.37:g.89717675_89717675dupC	ENSP00000361021:p.Arg234fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic				PTEN_ENST00000472832.1_3'UTR	p.RG233fs	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	2056_2057	+		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)	233			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.699_700insC	CCDS31238.1																																																																																				0.416	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		43	112						43	112	---	---	---	---	C	89717675	-	C	89717674	7	5	21	1	0	1	1	0	0	0	0	0	12750	262	10	0	725	0	PTEN	10	89717674	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	24764	89717674	45817073	444	1869										
IFIT1	3434	broad.mit.edu	37	chr10	91163163	91163163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccagtggtagaagaaacaatGcaagacatacatttccacta	7	9	0	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:91163163G>A	ENST00000371804.3	+	2	1298	c.1131G>A	c.(1129-1131)atG>atA	p.M377I	IFIT1_ENST00000546318.1_Missense_Mutation_p.M346I|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	377					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AAGAAACAATGCAAGACATAC	0.338																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(1036-1038)atG>atA		interferon-induced protein with tetratricopeptide repeats 1							43	44	43					10																	91163163		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.chr10:91163163G>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.1131G>A	10.37:g.91163163G>A	ENSP00000360869:p.Met377Ile		Somatic				IFIT1_ENST00000371804.3_Missense_Mutation_p.M377I|LIPA_ENST00000371837.1_Intron	p.M346I	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	2325	+			377					B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	c.1038G>A	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891148	0.52014	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.12879	2.64;2.64	5.62	2.7	0.31948	Tetratricopeptide-like helical (1);	2.105050	0.02994	N	0.147276	T	0.08268	0.0206	N	0.08118	0	0.20403	N	0.99991	B;B	0.17038	0.02;0.02	B;B	0.16289	0.015;0.015	T	0.28744	-1.0034	10	0.23302	T	0.38	.	6.7177	0.23312	0.3998:0.0:0.6002:0.0	.	377;377	Q5T7J1;P09914	.;IFIT1_HUMAN	I	377;346	ENSP00000360869:M377I;ENSP00000441968:M346I	ENSP00000360869:M377I	M	+	3	0	IFIT1	91153143	0.002000	0.14202	0.363000	0.25875	0.372000	0.29890	0.406000	0.21032	0.811000	0.34303	0.650000	0.86243	ATG		0.338	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		48	25	0	0	0	1	0	48	25					A	91163163	G	A	91163163	3	1	21	1	0	0	0	0	1	0	0	0	7530	1319	46	3	1137	3	IFIT1	10	91163163	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1445489	91163163	44371584	445	1870										
HECTD2	143279	broad.mit.edu	37	chr10	93221892	93221892	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	taacaccattgaagactctgGgattaatgctaaatttgtga	8	6	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:93221892G>T	ENST00000298068.5	+	5	645	c.551G>T	c.(550-552)gGg>gTg	p.G184V	HECTD2_ENST00000536715.1_5'Flank|HECTD2_ENST00000446394.1_Missense_Mutation_p.G184V|HECTD2_ENST00000371681.4_Missense_Mutation_p.G184V	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	184					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						GAAGACTCTGGGATTAATGCT	0.294																																					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.(550-552)gGg>gTg		HECT domain containing E3 ubiquitin protein ligase 2							204	203	203					10																	93221892		2203	4294	6497	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93221892G>T	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"HECT domain containing 2"			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.551G>T	10.37:g.93221892G>T	ENSP00000298068:p.Gly184Val		Somatic				HECTD2_ENST00000371681.4_Missense_Mutation_p.G184V|HECTD2_ENST00000298068.5_Missense_Mutation_p.G184V	p.G184V			WXS	Illumina GAIIx	Phase_I	Q5U5R9	HECD2_HUMAN			5	651	+			184					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.551G>T	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580007	0.65992	.	.	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.56776	1.04;0.44;1.02	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.70649	0.3248	L	0.59436	1.845	0.80722	D	1	P;D;D	0.76494	0.944;0.966;0.999	B;B;D	0.74023	0.277;0.368;0.982	T	0.72367	-0.4315	10	0.87932	D	0	.	19.1506	0.93487	0.0:0.0:1.0:0.0	.	184;184;184	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	V	184	ENSP00000401023:G184V;ENSP00000360746:G184V;ENSP00000298068:G184V	ENSP00000298068:G184V	G	+	2	0	HECTD2	93211872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.173000	0.89680	2.637000	0.89404	0.555000	0.69702	GGG		0.294	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			43	164	1	0	2.64894e-19	1	2.91118e-19	43	164					T	93221892	G	T	93221892	3	4	21	1	0	0	0	0	1	0	0	0	7049	1232	43	5	569	5	HECTD2	10	93221892	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2058729	93221892	42312855	446	1871										
KIF11	3832	broad.mit.edu	37	chr10	94408154	94408154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggtttgactaagcttaattgCtttctggaacaggatctgaa	10	6	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:94408154C>T	ENST00000260731.3	+	19	2823	c.2733C>T	c.(2731-2733)tgC>tgT	p.C911C		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	911					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						AGCTTAATTGCTTTCTGGAAC	0.299																																					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.(2731-2733)tgC>tgT		kinesin family member 11							69	68	69					10																	94408154		2203	4300	6503	SO:0001819	synonymous_variant	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.chr10:94408154C>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.2733C>T	10.37:g.94408154C>T			Somatic					p.C911C	NM_004523.3	NP_004514.2	WXS	Illumina GAIIx	Phase_I	P52732	KIF11_HUMAN			19	2823	+			911					A0AV49|B2RMV3|Q15716|Q5VWX0	Silent	SNP	ENST00000260731.3	37	c.2733C>T	CCDS7422.1																																																																																				0.299	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		30	94	0	0	0	1	0	30	94					T	94408154	C	T	94408154	2	4	21	1	0	0	0	0	0	0	0	1	8281	805	28	3		3	KIF11	10	94408154	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1186262	94408154	41126593	447	1872										
TBC1D12	23232	broad.mit.edu	37	chr10	96162514	96162514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggcgtcggcgctgtggagccGccggaggaggctgacgagga	21	10	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:96162514G>A	ENST00000225235.4	+	1	254	c.144G>A	c.(142-144)ccG>ccA	p.P48P		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	48							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CTGTGGAGCCGCCggaggagg	0.726																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.(142-144)ccG>ccA		TBC1 domain family, member 12							5	8	7					10																	96162514		1796	3811	5607	SO:0001819	synonymous_variant	23232					intracellular	Rab GTPase activator activity	g.chr10:96162514G>A	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.144G>A	10.37:g.96162514G>A			Somatic					p.P48P	NM_015188.1	NP_056003.1	WXS	Illumina GAIIx	Phase_I	O60347	TBC12_HUMAN			1	254	+		Colorectal(252;0.0429)	48					Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	c.144G>A	CCDS41553.1																																																																																				0.726	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			4	9	0	0	0	1	0	4	9					A	96162514	G	A	96162514	2	1	21	1	0	0	0	0	0	0	0	1	15616	1074	38	1		1	TBC1D12	10	96162514	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1754360	96162514	39372233	448	1873										
GOT1	2805	broad.mit.edu	37	chr10	101163312	101163312	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttggaccaagtaatccgcacGatcttctccatctgggaaag	9	11	3	0	rs200430334		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:101163312G>A	ENST00000370508.5	-	7	900	c.873C>T	c.(871-873)atC>atT	p.I291I	GOT1_ENST00000543866.1_Silent_p.I270I	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	291					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	TAATCCGCACGATCTTCTCCA	0.537																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(871-873)atC>atT		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	G		0,4406		0,0,2203	99	94	96		873	-7	0.8	10		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GOT1	NM_002079.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		291/414	101163312	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101163312G>A	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"aspartate aminotransferase 1", "aspartate transaminase 1"	138180	"glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.873C>T	10.37:g.101163312G>A			Somatic				GOT1_ENST00000543866.1_Silent_p.I270I	p.I291I	NM_002079.2	NP_002070.1	WXS	Illumina GAIIx	Phase_I	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	7	900	-		Ovarian(717;0.028)|Colorectal(252;0.234)	291					B2R6R7|B7Z7E9|Q5VW80	Silent	SNP	ENST00000370508.5	37	c.873C>T	CCDS7479.1																																																																																				0.537	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		93	67	0	0	0	1	0	93	67					A	101163312	G	A	101163312	2	1	21	1	0	0	0	0	0	0	0	1	6587	1048	37	1		1	GOT1	10	101163312	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	5000798	101163312	34371435	449	1874										
ACTR1A	10121	broad.mit.edu	37	chr10	104241927	104241927	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggggcccggaatcgggaaggAccaatctgcaggtaggaggg	19	8	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:104241927A>G	ENST00000369905.4	-	8	819	c.756T>C	c.(754-756)ggT>ggC	p.G252G	ACTR1A_ENST00000487599.1_Silent_p.G252G|ACTR1A_ENST00000446605.2_Silent_p.G205G|RP11-18I14.11_ENST00000608017.1_RNA|ACTR1A_ENST00000545684.1_Silent_p.G178G|ACTR1A_ENST00000470322.1_5'UTR	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	252					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|microtubule associated complex (GO:0005875)	ATP binding (GO:0005524)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		ATCGGGAAGGACCAATCTGCA	0.572																																						ENST00000369905.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13						c.(754-756)ggT>ggC		ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)							72	80	77					10																	104241927		2203	4300	6503	SO:0001819	synonymous_variant	10121				G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding	g.chr10:104241927A>G	X82206	CCDS7536.1	10q24	2008-07-08	2001-11-28		ENSG00000138107	ENSG00000138107			167	protein-coding gene	gene with protein product		605143	"ARP1 (actin-related protein 1, yeast) homolog A (centractin alpha)"			1528266	Standard	NM_005736		Approved	ARP1	uc001kvv.3	P61163	OTTHUMG00000018956	ENST00000369905.4:c.756T>C	10.37:g.104241927A>G			Somatic				ACTR1A_ENST00000487599.1_Silent_p.G252G|ACTR1A_ENST00000446605.2_Silent_p.G205G|ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000545684.1_Silent_p.G178G	p.G252G	NM_005736.3	NP_005727.1	WXS	Illumina GAIIx	Phase_I	P61163	ACTZ_HUMAN		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)	8	819	-		Colorectal(252;0.122)	252					B2R6B0|P42024	Silent	SNP	ENST00000369905.4	37	c.756T>C	CCDS7536.1																																																																																				0.572	ACTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050053.1			51	150	0	0	0	1	0	51	150					G	104241927	A	G	104241927	2	3	21	1	0	0	0	0	0	0	0	1	209	262	10	4		4	ACTR1A	10	104241927	Silent	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	3078615	104241927	31292820	450	1875										
C10orf79	80217	broad.mit.edu	37	chr10	105957717	105957717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caggtgtgataaagtcaattGcctgaaatttcccatcacaa	7	9	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:105957717G>A	ENST00000278064.2	-	9	1293	c.968C>T	c.(967-969)gCa>gTa	p.A323V	WDR96_ENST00000369720.1_Missense_Mutation_p.A323V|WDR96_ENST00000428666.1_Missense_Mutation_p.A393V|WDR96_ENST00000357060.3_Missense_Mutation_p.A392V																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						AAAGTCAATTGCCTGAAATTT	0.343																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(1174-1176)gCa>gTa		WD repeat domain 96							115	108	111					10																	105957717		2202	4300	6502	SO:0001583	missense	80217							g.chr10:105957717G>A																												ENST00000278064.2:c.968C>T	10.37:g.105957717G>A	ENSP00000278064:p.Ala323Val		Somatic				WDR96_ENST00000369720.1_Missense_Mutation_p.A323V|WDR96_ENST00000278064.2_Missense_Mutation_p.A323V|WDR96_ENST00000428666.1_Missense_Mutation_p.A393V	p.A392V	NM_025145.5	NP_079421.5	WXS	Illumina GAIIx	Phase_I	Q8NDM7	WDR96_HUMAN			9	1290	-			392						Missense_Mutation	SNP	ENST00000278064.2	37	c.1175C>T		.	.	.	.	.	.	.	.	.	.	G	16.39	3.110781	0.56398	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720	T;T;T;T	0.32272	1.49;1.49;1.49;1.46	5.88	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.161988	0.29438	N	0.012147	T	0.53867	0.1823	M	0.72894	2.215	0.36670	D	0.878442	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.964	T	0.59348	-0.7471	10	0.48119	T	0.1	.	14.4301	0.67243	0.0733:0.0:0.9267:0.0	.	393;392	B4DHB6;Q8NDM7	.;WDR96_HUMAN	V	392;393;323;323	ENSP00000349568:A392V;ENSP00000400289:A393V;ENSP00000278064:A323V;ENSP00000358734:A323V	ENSP00000278064:A323V	A	-	2	0	WDR96	105947707	1.000000	0.71417	0.655000	0.29622	0.104000	0.19210	3.877000	0.56123	2.788000	0.95919	0.650000	0.86243	GCA		0.343	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			38	27	0	0	0	1	0	38	27					A	105957717	G	A	105957717	3	1	21	1	0	0	0	0	1	0	0	0	1620	1319	46	3	3942	3	C10orf79	10	105957717	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1715790	105957717	29577030	451	1876										
C10orf79	80217	broad.mit.edu	37	chr10	105965735	105965735	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cattacaattccagaagccaGcacgccctccttctgatata	5	14	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:105965735G>T	ENST00000278064.2	-	7	1067	c.742C>A	c.(742-744)Ctg>Atg	p.L248M	WDR96_ENST00000369720.1_Missense_Mutation_p.L248M|WDR96_ENST00000428666.1_Missense_Mutation_p.L318M|WDR96_ENST00000369719.1_Missense_Mutation_p.L248M|WDR96_ENST00000357060.3_Missense_Mutation_p.L317M																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						CCAGAAGCCAGCACGCCCTCC	0.328																																						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.(949-951)Ctg>Atg		WD repeat domain 96							60	57	58					10																	105965735		2203	4298	6501	SO:0001583	missense	80217							g.chr10:105965735G>T																												ENST00000278064.2:c.742C>A	10.37:g.105965735G>T	ENSP00000278064:p.Leu248Met		Somatic				WDR96_ENST00000369719.1_Missense_Mutation_p.L248M|WDR96_ENST00000369720.1_Missense_Mutation_p.L248M|WDR96_ENST00000278064.2_Missense_Mutation_p.L248M|WDR96_ENST00000428666.1_Missense_Mutation_p.L318M	p.L317M	NM_025145.5	NP_079421.5	WXS	Illumina GAIIx	Phase_I	Q8NDM7	WDR96_HUMAN			7	1064	-			317						Missense_Mutation	SNP	ENST00000278064.2	37	c.949C>A		.	.	.	.	.	.	.	.	.	.	G	12.48	1.950923	0.34471	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720;ENST00000369719	T;T;T;T;T	0.73047	2.33;2.37;2.32;1.36;-0.71	4.43	-1.17	0.09648	WD40 repeat-like-containing domain (1);	0.835214	0.10056	N	0.721557	T	0.66228	0.2768	L	0.53249	1.67	0.09310	N	1	P;D;P	0.53151	0.951;0.958;0.94	P;P;P	0.51516	0.672;0.487;0.592	T	0.56420	-0.7982	10	0.52906	T	0.07	.	0.7045	0.00913	0.3159:0.1639:0.3523:0.1678	.	317;318;317	Q8NDM7-5;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	M	317;318;248;248;248	ENSP00000349568:L317M;ENSP00000400289:L318M;ENSP00000278064:L248M;ENSP00000358734:L248M;ENSP00000358733:L248M	ENSP00000278064:L248M	L	-	1	2	WDR96	105955725	0.001000	0.12720	0.058000	0.19502	0.790000	0.44656	-0.672000	0.05244	-0.186000	0.10533	-0.355000	0.07637	CTG		0.328	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			27	10	1	0	2.80507e-11	1	2.98188e-11	27	10					T	105965735	G	T	105965735	3	4	21	1	0	0	0	0	1	0	0	0	1620	962	34	5	4176	5	C10orf79	10	105965735	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	8018	105965735	29569012	452	1877										
CCDC147	159686	broad.mit.edu	37	chr10	106121801	106121801	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaaattgaaaaggcctggaaGatggtggactcagcctatga	13	6	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:106121801G>T	ENST00000369704.3	+	3	446	c.312G>T	c.(310-312)aaG>aaT	p.K104N	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		104						extracellular space (GO:0005615)				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)		AGGCCTGGAAGATGGTGGACT	0.448																																						ENST00000369704.3																			0				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.(310-312)aaG>aaT		coiled-coil domain containing 147							100	92	95					10																	106121801		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106121801G>T																												ENST00000369704.3:c.312G>T	10.37:g.106121801G>T	ENSP00000358718:p.Lys104Asn		Somatic				CCDC147_ENST00000312902.5_5'UTR	p.K104N	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)	3	446	+		Colorectal(252;0.103)|Breast(234;0.122)	104					D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.312G>T	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908709	0.72868	.	.	ENSG00000120051	ENST00000369704	T	0.37915	1.17	6.17	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.55593	0.1930	M	0.85373	2.75	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.57802	-0.7748	10	0.17832	T	0.49	-36.0124	7.0949	0.25305	0.284:0.0:0.716:0.0	.	104	Q5T655	CC147_HUMAN	N	104	ENSP00000358718:K104N	ENSP00000358718:K104N	K	+	3	2	CCDC147	106111791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.923000	0.56469	1.627000	0.50400	0.655000	0.94253	AAG		0.448	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			42	26	1	0	3.77016e-25	1	4.20665e-25	42	26					T	106121801	G	T	106121801	3	4	21	1	0	0	0	0	1	0	0	0	2783	933	33	2	322	2	CCDC147	10	106121801	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	156066	106121801	29412946	453	1878										
SORCS3	22986	broad.mit.edu	37	chr10	106976790	106976790	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcgaggacggcatcaagcacGtgtataagagtgcggggatc					rs369131118		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:106976790delG	ENST00000369701.3	+	19	2871	c.2644delG	c.(2644-2646)gtgfs	p.V882fs	SORCS3_ENST00000369699.4_Frame_Shift_Del_p.V168fs	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	882	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATCAAGCACGTGTATAAGAG	0.517																																					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.(2644-2646)tgfs		sortilin-related VPS10 domain containing receptor 3							179	138	152					10																	106976790		2203	4300	6503	SO:0001589	frameshift_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106976790delG	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.2644delG	10.37:g.106976790delG	ENSP00000358715:p.Val882fs		Somatic				SORCS3_ENST00000369699.4_Frame_Shift_Del_p.V168fs	p.V882fs	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)	19	2871	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	882			PKD.		Q5VXF9|Q9NQJ2	Frame_Shift_Del	DEL	ENST00000369701.3	37	c.2644delG	CCDS7558.1																																																																																				0.517	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		32	76						32	76	---	---	---	---	-	106976790	G	-	106976790	7	5	21	1	0	1	0	1	0	0	0	0	14947	1145	40	0	2718	0	SORCS3	10	106976790	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	854989	106976790	28557957	454	1879										
ADRA2A	150	broad.mit.edu	37	chr10	112837856	112837856	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggaacgggaccgaggcgccGgggggcggcgcccgggccac							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:112837856delG	ENST00000280155.2	+	1	1067	c.102delG	c.(100-102)ccgfs	p.P34fs		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	19					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)	p.G22fs*>430(1)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCGAggcgccggggggcggcg	0.726																																					Esophageal Squamous(173;605 2658 7278 49362)	ENST00000280155.2																			1	Insertion - Frameshift(1)	p.G22fs*>430(1)	large_intestine(1)	breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(100-102)ccfs		adrenoceptor alpha 2A	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)			15,4101		0,15,2043	8	9	9			3.7	1	10		8	36,7974		1,34,3970	no	frameshift	ADRA2A	NM_000681.3		1,49,6013	A1A1,A1R,RR		0.4494,0.3644,0.4206			112837856	51,12075	2149	4208	6357	SO:0001589	frameshift_variant	150				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	g.chr10:112837856delG	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"GPCR / Class A : Adrenoceptors : alpha"	281	protein-coding gene	gene with protein product	"alpha-2AAR subtype C10", " alpha-2A-adrenergic receptor"	104210	"adrenergic, alpha-2A-, receptor"	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.102delG	10.37:g.112837856delG	ENSP00000280155:p.Pro34fs		Somatic					p.P34fs	NM_000681.3	NP_000672.3	WXS	Illumina GAIIx	Phase_I	P08913	ADA2A_HUMAN		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	1	1067	+		Breast(234;0.0735)|Lung NSC(174;0.238)	19					B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Frame_Shift_Del	DEL	ENST00000280155.2	37	c.102delG	CCDS7569.2																																																																																				0.726	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		5	10						5	10	---	---	---	---	-	112837856	G	-	112837856	7	5	21	1	0	1	0	1	0	0	0	0	337	1103	39	0	104	0	ADRA2A	10	112837856	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	5861066	112837856	22696891	455	1880										
TCF7L2	6934	broad.mit.edu	37	chr10	114900983	114900984	+	Frame_Shift_Ins	INS	-	-	C													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cagcaccctcaccatgtccaINSccccctcacgcctcttatca							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:114900983_114900984insC	ENST00000355995.4	+	6	1100_1101	c.593_594insC	c.(592-597)caccccfs	p.HP198fs	TCF7L2_ENST00000369397.4_Frame_Shift_Ins_p.HP175fs|TCF7L2_ENST00000352065.5_Frame_Shift_Ins_p.HP175fs|TCF7L2_ENST00000369395.1_Frame_Shift_Ins_p.HP223fs|TCF7L2_ENST00000369389.1_5'Flank|TCF7L2_ENST00000355717.4_Frame_Shift_Ins_p.HP222fs|TCF7L2_ENST00000543371.1_Frame_Shift_Ins_p.HP198fs|TCF7L2_ENST00000545257.1_Frame_Shift_Ins_p.HP198fs|TCF7L2_ENST00000538897.1_Frame_Shift_Ins_p.HP198fs|TCF7L2_ENST00000536810.1_Frame_Shift_Ins_p.HP198fs|TCF7L2_ENST00000534894.1_Frame_Shift_Ins_p.HP198fs|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000349937.2_Frame_Shift_Ins_p.HP198fs			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	198	Pro-rich.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CACCATGTCCACCCCCTCACGC	0.569			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.(592-594)cccfs		transcription factor 7-like 2 (T-cell specific, HMG-box)																																				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.chr10:114900983_114900984insC	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.598dupC	10.37:g.114900988_114900988dupC	ENSP00000348274:p.His198fs		Somatic				TCF7L2_ENST00000349937.2_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000543371.1_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000352065.5_Frame_Shift_Ins_p.P175fs|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000355717.4_Frame_Shift_Ins_p.P222fs|TCF7L2_ENST00000536810.1_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000538897.1_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000369395.1_Frame_Shift_Ins_p.P223fs|TCF7L2_ENST00000534894.1_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000369397.4_Frame_Shift_Ins_p.P175fs|TCF7L2_ENST00000545257.1_Frame_Shift_Ins_p.P198fs	p.P198fs			WXS	Illumina GAIIx	Phase_I	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	6	1100_1101	+		Breast(234;0.058)|Colorectal(252;0.0615)	198			Pro-rich.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Frame_Shift_Ins	INS	ENST00000355995.4	37	c.593_594insC																																																																																					0.569	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		43	140						43	140	---	---	---	---	C	114900984	-	C	114900983	7	5	21	1	0	1	1	0	0	0	0	0	15713	159	6	0	760	0	TCF7L2	10	114900983	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	2063127	114900983	20633764	456	1881										
NRAP	4892	broad.mit.edu	37	chr10	115410306	115410306	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agtcctctgtgtatctcaccTgaaatgaaaaaacatgtgaa	7	8	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:115410306T>C	ENST00000359988.3	-	8	920		c.e8-2		NRAP_ENST00000369358.4_Splice_Site|NRAP_ENST00000360478.3_Splice_Site|NRAP_ENST00000369360.3_Splice_Site	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)		GTATCTCACCTGAAATGAAAA	0.458																																						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.e8-2		nebulin-related anchoring protein							111	94	100					10																	115410306		2203	4300	6503	SO:0001630	splice_region_variant	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115410306T>C		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.676-2A>G	10.37:g.115410306T>C			Somatic				NRAP_ENST00000369360.3_Splice_Site|NRAP_ENST00000359988.3_Splice_Site|NRAP_ENST00000360478.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	8	920	-		Colorectal(252;0.0233)|Breast(234;0.188)							Splice_Site	SNP	ENST00000359988.3	37		CCDS7579.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.819695	0.71028	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRAP	115400296	1.000000	0.71417	0.973000	0.42090	0.800000	0.45204	5.219000	0.65262	2.371000	0.80710	0.533000	0.62120	.		0.458	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	Intron	19	41	0	0	0	1	0	19	41					C	115410306	T	C	115410306	5	2	21	1	0	0	0	0	0	0	1	0	10647	1594	55	4	4658	4	NRAP	10	115410306	Splice_Site	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	509323	115410306	20124441	457	1882										
ATRNL1	26033	broad.mit.edu	37	chr10	117226764	117226765	+	Splice_Site	INS	-	-	A													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggtctgtcggttcaacaggtINSaaaaaaatgttgatgtcata							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:117226764_117226765insA	ENST00000355044.3	+	23	3622		c.e23+2		ATRNL1_ENST00000423111.2_Splice_Site|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1						G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTTCAACAGGTAAAAAAATGTT	0.287																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.e23+2		attractin-like 1																																				SO:0001630	splice_region_variant	26033					integral to membrane	sugar binding	g.chr10:117226764_117226765insA	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3496+2->A	10.37:g.117226771_117226771dupA			Somatic				ATRNL1_ENST00000423111.2_Splice_Site|ATRNL1_ENST00000303745.7_Intron		NM_207303.2	NP_997186.1	WXS	Illumina GAIIx	Phase_I	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	23	3622	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)						O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Splice_Site	INS	ENST00000355044.3	37		CCDS7592.1																																																																																				0.287	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	Intron	14	37						14	37	---	---	---	---	A	117226765	-	A	117226764	8	5	21	1	0	1	1	0	0	0	1	0	1207	1652	57	0	3588	0	ATRNL1	10	117226764	Splice_Site	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	1816458	117226764	18307983	458	1883										
RAB11FIP2	22841	broad.mit.edu	37	chr10	119768725	119768725	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	taccctgcagtggcatcaaaGgggttgctgtcctagaacag							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:119768725delG	ENST00000355624.3	-	5	1762	c.1323delC	c.(1321-1323)cccfs	p.P441fs	RAB11FIP2_ENST00000369199.3_Frame_Shift_Del_p.P461fs|RAB11FIP2_ENST00000476207.1_5'UTR	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	441	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.				establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TGGCATCAAAGGGGTTGCTGT	0.428																																						ENST00000355624.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(1321-1323)ccfs		RAB11 family interacting protein 2 (class I)							87	83	84					10																	119768725		2203	4299	6502	SO:0001589	frameshift_variant	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119768725delG	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1323delC	10.37:g.119768725delG	ENSP00000347839:p.Pro441fs		Somatic				RAB11FIP2_ENST00000476207.1_5'UTR|RAB11FIP2_ENST00000369199.3_Frame_Shift_Del_p.P461fs	p.P441fs	NM_014904.2	NP_055719.1	WXS	Illumina GAIIx	Phase_I	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	5	1762	-		Colorectal(252;0.235)	441			FIP-RBD.		A6NEI4|Q3I768|Q9Y2F0	Frame_Shift_Del	DEL	ENST00000355624.3	37	c.1323delC	CCDS7602.1																																																																																				0.428	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		11	155						11	155	---	---	---	---	-	119768725	G	-	119768725	7	5	21	1	0	1	0	1	0	0	0	0	12909	987	35	0	219	0	RAB11FIP2	10	119768725	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2541961	119768725	15766022	459	1884										
FGFR2	2263	broad.mit.edu	37	chr10	123279677	123279677	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggaggatgggccggtgaggcGatcgctctggtggagagagg	22	6	1	2	rs79184941|rs121918498|rs281865420		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:123279677G>C	ENST00000358487.5	-	7	1027	c.755C>G	c.(754-756)tCg>tGg	p.S252W	FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369060.4_Missense_Mutation_p.S252W|FGFR2_ENST00000356226.4_Missense_Mutation_p.S137W|FGFR2_ENST00000351936.6_Missense_Mutation_p.S252W|FGFR2_ENST00000357555.5_Missense_Mutation_p.S163W|FGFR2_ENST00000346997.2_Missense_Mutation_p.S252W|FGFR2_ENST00000360144.3_Missense_Mutation_p.S163W|FGFR2_ENST00000478859.1_Missense_Mutation_p.S24W|FGFR2_ENST00000457416.2_Missense_Mutation_p.S252W|FGFR2_ENST00000369056.1_Missense_Mutation_p.S252W|FGFR2_ENST00000369059.1_Missense_Mutation_p.S137W|FGFR2_ENST00000369061.4_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	252			S -> F (in APRS; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:9002682}.|S -> L (in CS). {ECO:0000269|PubMed:9002682}.|S -> W (in APRS and PS; common mutation). {ECO:0000269|PubMed:11781872, ECO:0000269|PubMed:7668257, ECO:0000269|PubMed:7719344, ECO:0000269|PubMed:9452027, ECO:0000269|PubMed:9677057, ECO:0000269|PubMed:9719378}.|SP -> FS (in PS).		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)	p.S252W(68)|p.S163W(13)		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)	CCGGTGAGGCGATCGCTCTGG	0.557	S252W(MFE280_ENDOMETRIUM)	5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5	S252W(MFE280_ENDOMETRIUM)	5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"Crouzon, Pfeiffer, and Apert syndromes"	E			"gastric. NSCLC, endometrial"		81	Substitution - Missense(81)	p.S252W(68)|p.S163W(13)	endometrium(81)	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	GRCh37	CM950458|CM970526	FGFR2	M	rs79184941	c.(754-756)tCg>tGg		fibroblast growth factor receptor 2	Palifermin(DB00039)						54	44	47					10																	123279677		2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123279677G>C	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.755C>G	10.37:g.123279677G>C	ENSP00000351276:p.Ser252Trp		Somatic				FGFR2_ENST00000369056.1_Missense_Mutation_p.S252W|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000369059.1_Missense_Mutation_p.S137W|FGFR2_ENST00000478859.1_Missense_Mutation_p.S24W|FGFR2_ENST00000457416.2_Missense_Mutation_p.S252W|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000356226.4_Missense_Mutation_p.S137W|FGFR2_ENST00000360144.3_Missense_Mutation_p.S163W|FGFR2_ENST00000351936.6_Missense_Mutation_p.S252W|FGFR2_ENST00000346997.2_Missense_Mutation_p.S252W|FGFR2_ENST00000357555.5_Missense_Mutation_p.S163W|FGFR2_ENST00000369060.4_Missense_Mutation_p.S252W	p.S252W	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)	7	1027	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	252		S -> F (in APRS; requires 2 nucleotide substitutions).|S -> L (in CS).|S -> W (in APRS and PS; common mutation).|SP -> FS (in PS).			B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.755C>G	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419975	0.83559	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	T;T;T;T;T;T;T;T;T;T;T;T	0.80909	-1.34;-1.36;-1.33;-1.43;-1.31;-1.36;-1.36;-1.36;-1.34;-1.35;-1.35;-1.33	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.92341	0.7570	M	0.91300	3.195	0.80722	A	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.989;0.994;1.0;1.0;1.0;0.998;1.0	D;D;D;P;D;D;D;D;D;D	0.87578	0.967;0.992;0.998;0.786;0.933;0.994;0.997;0.998;0.931;0.995	D	0.92850	0.6296	9	0.59425	D	0.04	.	20.0368	0.97565	0.0:0.0:1.0:0.0	.	271;137;252;271;252;163;137;271;163;252	D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;.;.	W	163;252;252;137;252;137;252;252;252;163;252;252;163	ENSP00000350166:S163W;ENSP00000351276:S252W;ENSP00000348559:S137W;ENSP00000358056:S252W;ENSP00000358055:S137W;ENSP00000263451:S252W;ENSP00000410294:S252W;ENSP00000309878:S252W;ENSP00000353262:S163W;ENSP00000358052:S252W;ENSP00000358054:S252W;ENSP00000337665:S163W	ENSP00000337665:S163W	S	-	2	0	FGFR2	123269667	1.000000	0.71417	0.457000	0.27056	0.735000	0.41995	9.860000	0.99555	2.735000	0.93741	0.563000	0.77884	TCG		0.557	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		12	27	0	0	0	1	0	12	27					C	123279677	G	C	123279677	3	2	21	1	0	0	0	0	1	0	0	0	5874	1059	37	2	2014	2	FGFR2	10	123279677	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3510952	123279677	12255070	460	1885										
FGFR2	2263	broad.mit.edu	37	chr10	123325123	123325123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atccttagtccaactgatcaCggcggcatctttcaacaggc	8	13	3	1	rs371714070		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:123325123C>T	ENST00000358487.5	-	3	477	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369060.4_Missense_Mutation_p.V69M|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000359354.2_Missense_Mutation_p.V69M|FGFR2_ENST00000351936.6_Missense_Mutation_p.V69M|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000346997.2_Missense_Mutation_p.V69M|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000457416.2_Missense_Mutation_p.V69M|FGFR2_ENST00000369056.1_Missense_Mutation_p.V69M|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000369061.4_Missense_Mutation_p.V69M	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	69	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)	CAACTGATCACGGCGGCATCT	0.552		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"Crouzon, Pfeiffer, and Apert syndromes"	E			"gastric. NSCLC, endometrial"		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(205-207)Gtg>Atg		fibroblast growth factor receptor 2	Palifermin(DB00039)	C	MET/VAL,MET/VAL,MET/VAL,,,MET/VAL,,,MET/VAL	0,4406		0,0,2203	157	137	144		205,205,205,,,205,,,205	1.6	0.6	10		144	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,intron,intron,missense,intron,intron,missense	FGFR2	NM_000141.4,NM_001144913.1,NM_001144914.1,NM_001144915.1,NM_001144916.1,NM_001144917.1,NM_001144918.1,NM_001144919.1,NM_022970.3	21,21,21,,,21,,,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,,,benign,,,benign	69/822,69/770,69/710,,,69/706,,,69/823	123325123	1,13005	2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123325123C>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.205G>A	10.37:g.123325123C>T	ENSP00000351276:p.Val69Met		Somatic				FGFR2_ENST00000369056.1_Missense_Mutation_p.V69M|FGFR2_ENST00000369061.4_Missense_Mutation_p.V69M|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000457416.2_Missense_Mutation_p.V69M|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000359354.2_Missense_Mutation_p.V69M|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000351936.6_Missense_Mutation_p.V69M|FGFR2_ENST00000346997.2_Missense_Mutation_p.V69M|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369060.4_Missense_Mutation_p.V69M	p.V69M	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	477	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	69			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	Missense_Mutation	SNP	ENST00000358487.5	37	c.205G>A	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975241	0.34848	0.0	1.16E-4	ENSG00000066468	ENST00000369062;ENST00000369061;ENST00000358487;ENST00000369060;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000369056;ENST00000369058;ENST00000359354	T;T;T;T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6	5.13	1.65	0.23941	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.655730	0.16763	N	0.200527	T	0.07683	0.0193	N	0.17312	0.475	0.24575	N	0.993904	B;B;B;B;B;B;B;B	0.15930	0.003;0.001;0.004;0.015;0.012;0.0;0.003;0.0	B;B;B;B;B;B;B;B	0.15484	0.008;0.002;0.013;0.01;0.003;0.007;0.008;0.003	T	0.30327	-0.9982	10	0.42905	T	0.14	.	6.4855	0.22087	0.0:0.3739:0.0:0.6261	.	88;88;69;88;69;69;88;69	D3DRD9;D3DRD4;B5A960;D3DRD5;P21802-18;P21802;D3DRE0;P21802-17	.;.;.;.;.;FGFR2_HUMAN;.;.	M	69	ENSP00000358057:V69M;ENSP00000351276:V69M;ENSP00000358056:V69M;ENSP00000263451:V69M;ENSP00000410294:V69M;ENSP00000309878:V69M;ENSP00000358052:V69M;ENSP00000358054:V69M;ENSP00000352309:V69M	ENSP00000263451:V69M	V	-	1	0	FGFR2	123315113	0.838000	0.29461	0.640000	0.29408	0.955000	0.61496	0.072000	0.14617	0.091000	0.17302	-0.323000	0.08544	GTG		0.552	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		81	157	0	0	0	1	0	81	157					T	123325123	C	T	123325123	3	4	21	1	0	0	0	0	1	0	0	0	5874	536	19	1	2580	1	FGFR2	10	123325123	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	45446	123325123	12209624	461	1886										
FAM53B	9679	broad.mit.edu	37	chr10	126311887	126311887	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcccaggggccccgcggtccCgccaggctgcagccggctcc	14	20	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:126311887C>A	ENST00000337318.3	-	5	1404	c.1193G>T	c.(1192-1194)cGg>cTg	p.R398L	FAM53B_ENST00000392754.3_Missense_Mutation_p.R398L|RP11-12J10.3_ENST00000494792.1_Intron	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	398										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)		CCCGCGGTCCCGCCAGGCTGC	0.672																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(1192-1194)cGg>cTg		family with sequence similarity 53, member B							24	27	26					10																	126311887		2193	4282	6475	SO:0001583	missense	9679							g.chr10:126311887C>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.1193G>T	10.37:g.126311887C>A	ENSP00000338532:p.Arg398Leu		Somatic				FAM53B_ENST00000392754.3_Missense_Mutation_p.R398L|RP11-12J10.3_ENST00000494792.1_Intron	p.R398L	NM_014661.3	NP_055476.3	WXS	Illumina GAIIx	Phase_I	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	5	1404	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	398					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.1193G>T	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741746	0.30865	.	.	ENSG00000189319	ENST00000337318;ENST00000392754	.	.	.	5.08	4.18	0.49190	.	0.371283	0.24766	N	0.035772	T	0.48484	0.1502	L	0.44542	1.39	0.80722	D	1	B	0.30281	0.275	B	0.28465	0.09	T	0.52260	-0.8599	9	0.72032	D	0.01	-23.0554	11.0667	0.47979	0.0:0.9148:0.0:0.0852	.	398	Q14153	FA53B_HUMAN	L	398	.	ENSP00000338532:R398L	R	-	2	0	FAM53B	126301877	0.105000	0.21958	1.000000	0.80357	0.065000	0.16274	0.365000	0.20348	1.367000	0.46095	-0.140000	0.14226	CGG		0.672	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		65	42	1	0	2.79145e-41	1	3.15884e-41	65	42					A	126311887	C	A	126311887	3	1	21	1	0	0	0	0	1	0	0	0	5588	652	23	5	79	5	FAM53B	10	126311887	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2986764	126311887	9222860	462	1887										
FAM53B	9679	broad.mit.edu	37	chr10	126312029	126312029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctcagggaccggggtcccagCgggggtcctgccccctgggc	17	16	1	0	rs200397847	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:126312029C>T	ENST00000337318.3	-	5	1262	c.1051G>A	c.(1051-1053)Gct>Act	p.A351T	FAM53B_ENST00000392754.3_Missense_Mutation_p.A351T|RP11-12J10.3_ENST00000494792.1_Intron	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	351										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)		GGGGTCCCAGCGGGGGTCCTG	0.706													C|||	4	0.000798722	0.003	0	5008	,	,		14896	0		0	False		,,,				2504	0					ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(1051-1053)Gct>Act		family with sequence similarity 53, member B		C	THR/ALA	5,4365		0,5,2180	10	11	11		1051	3.3	0.3	10		11	1,8519		0,1,4259	yes	missense	FAM53B	NM_014661.3	58	0,6,6439	TT,TC,CC		0.0117,0.1144,0.0465	probably-damaging	351/423	126312029	6,12884	2185	4260	6445	SO:0001583	missense	9679							g.chr10:126312029C>T	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.1051G>A	10.37:g.126312029C>T	ENSP00000338532:p.Ala351Thr		Somatic				FAM53B_ENST00000392754.3_Missense_Mutation_p.A351T|RP11-12J10.3_ENST00000494792.1_Intron	p.A351T	NM_014661.3	NP_055476.3	WXS	Illumina GAIIx	Phase_I	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	5	1262	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	351					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.1051G>A	CCDS7641.1	5	0.0022893772893772895	3	0.006097560975609756	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	C	16.78	3.216642	0.58452	0.001144	1.17E-4	ENSG00000189319	ENST00000337318;ENST00000392754	.	.	.	5.18	3.29	0.37713	.	0.308493	0.29830	N	0.011089	T	0.30448	0.0765	L	0.47716	1.5	0.19300	N	0.999971	B	0.18968	0.032	B	0.14578	0.011	T	0.31530	-0.9940	9	0.62326	D	0.03	-28.1662	8.4521	0.32877	0.0:0.7649:0.1538:0.0812	.	351	Q14153	FA53B_HUMAN	T	351	.	ENSP00000338532:A351T	A	-	1	0	FAM53B	126302019	0.990000	0.36364	0.255000	0.24374	0.889000	0.51656	2.982000	0.49337	0.737000	0.32582	-0.119000	0.15052	GCT		0.706	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		5	17	0	0	0	1	0	5	17					T	126312029	C	T	126312029	3	4	21	1	0	0	0	0	1	0	0	0	5588	768	27	1	221	1	FAM53B	10	126312029	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	142	126312029	9222718	463	1888										
JAKMIP3	282973	broad.mit.edu	37	chr10	133958682	133958682	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gacctggagaaggccctggcGgagcaggggcaggtgagcct	19	10	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:133958682G>A	ENST00000298622.4	+	11	1812	c.1674G>A	c.(1672-1674)gcG>gcA	p.A558A	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	558						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)		AGGCCCTGGCGGAGCAGGGGC	0.607																																						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.(1672-1674)gcG>gcA		Janus kinase and microtubule interacting protein 3							22	21	21					10																	133958682		2200	4295	6495	SO:0001819	synonymous_variant	282973							g.chr10:133958682G>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.1674G>A	10.37:g.133958682G>A			Somatic				JAKMIP3_ENST00000477275.1_3'UTR	p.A558A	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)	11	1812	+		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.1674G>A	CCDS44494.1																																																																																				0.607	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		11	29	0	0	0	1	0	11	29					A	133958682	G	A	133958682	2	1	21	1	0	0	0	0	0	0	0	1	7951	1103	39	1		1	JAKMIP3	10	133958682	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	7646653	133958682	1576065	464	1889										
PWWP2B	170394	broad.mit.edu	37	chr10	134218255	134218255	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gatgcagctggggtccagctCcccccctcctgcccgcgggg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:134218255delC	ENST00000305233.5	+	2	310	c.251delC	c.(250-252)tccfs	p.S84fs	PWWP2B_ENST00000368609.4_Frame_Shift_Del_p.S84fs	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	84										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGGTCCAGCTCCCCCCCTCCT	0.746																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(250-252)tcfs		PWWP domain containing 2B							30	34	33					10																	134218255		2127	4239	6366	SO:0001589	frameshift_variant	170394							g.chr10:134218255delC	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.251delC	10.37:g.134218255delC	ENSP00000306324:p.Ser84fs		Somatic				PWWP2B_ENST00000368609.4_Frame_Shift_Del_p.S84fs	p.S84fs	NM_138499.3	NP_612508.3	WXS	Illumina GAIIx	Phase_I	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	310	+		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)	84					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Frame_Shift_Del	DEL	ENST00000305233.5	37	c.251delC	CCDS7667.2																																																																																				0.746	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		7	123						7	123	---	---	---	---	-	134218255	C	-	134218255	7	5	21	1	0	1	0	1	0	0	0	0	12861	855	30	0	257	0	PWWP2B	10	134218255	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	259573	134218255	1316492	465	1890										
GPR123	84435	broad.mit.edu	37	chr10	134941910	134941910	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caccctggtcacctgtgtgtActtcctgggcacctacgtgc	10	15	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:134941910A>G	ENST00000392607.3	+	7	1014	c.578A>G	c.(577-579)tAc>tGc	p.Y193C	GPR123_ENST00000607359.1_Missense_Mutation_p.Y912C|GPR123_ENST00000392606.2_Missense_Mutation_p.Y96C	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	193					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)			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)		ACCTGTGTGTACTTCCTGGGC	0.701																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(2734-2736)tAc>tGc		G protein-coupled receptor 123							16	16	16					10																	134941910		2183	4266	6449	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134941910A>G	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.578A>G	10.37:g.134941910A>G	ENSP00000376384:p.Tyr193Cys		Somatic				GPR123_ENST00000392606.2_Missense_Mutation_p.Y96C|GPR123_ENST00000392607.3_Missense_Mutation_p.Y193C	p.Y912C			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	2735	+		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)	193					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.2735A>G	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	16.75	3.209780	0.58343	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.43294	0.95	4.75	4.75	0.60458	GPCR, family 2-like (1);	0.000000	0.53938	D	0.000048	T	0.66733	0.2819	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.998	T	0.72849	-0.4168	10	0.87932	D	0	-49.2731	12.4906	0.55897	1.0:0.0:0.0:0.0	.	193;912	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	C	912;193;97	ENSP00000376384:Y193C	ENSP00000357566:Y912C	Y	+	2	0	GPR123	134791900	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	6.808000	0.75206	1.910000	0.55303	0.402000	0.26972	TAC		0.701	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			20	22	0	0	0	1	0	20	22					G	134941910	A	G	134941910	3	3	21	1	0	0	0	0	1	0	0	0	6645	391	14	4	600	4	GPR123	10	134941910	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	723655	134941910	592837	466	1891										
RIC8A	60626	broad.mit.edu	37	chr11	214328	214328	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggagcagcagctctcctcggAccctgactcggaccctgact	11	16	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:214328A>G	ENST00000526104.1	+	10	2918	c.1574A>G	c.(1573-1575)gAc>gGc	p.D525G	RIC8A_ENST00000527696.1_Missense_Mutation_p.D519G|RIC8A_ENST00000325207.5_Missense_Mutation_p.D531G|RIC8A_ENST00000531541.1_3'UTR			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	525					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTCTCctcggaccctgactcg	0.597																																						ENST00000526104.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13						c.(1573-1575)gAc>gGc		RIC8 guanine nucleotide exchange factor A							80	63	69					11																	214328		2203	4300	6503	SO:0001583	missense	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:214328A>G	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.1574A>G	11.37:g.214328A>G	ENSP00000432008:p.Asp525Gly		Somatic				RIC8A_ENST00000531541.1_3'UTR|RIC8A_ENST00000527696.1_Missense_Mutation_p.D519G|RIC8A_ENST00000325207.5_Missense_Mutation_p.D531G	p.D525G			WXS	Illumina GAIIx	Phase_I	Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	10	2918	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	525					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	37	c.1574A>G		.	.	.	.	.	.	.	.	.	.	A	17.94	3.511009	0.64522	.	.	ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000527696	.	.	.	4.83	4.83	0.62350	.	0.117788	0.56097	D	0.000038	T	0.44726	0.1307	L	0.27053	0.805	0.53688	D	0.999974	P;P;P	0.42692	0.787;0.457;0.592	B;B;B	0.42771	0.397;0.174;0.397	T	0.51849	-0.8653	9	0.87932	D	0	-27.4938	14.268	0.66133	1.0:0.0:0.0:0.0	.	519;525;531	Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3	.;RIC8A_HUMAN;.	G	525;531;519	.	ENSP00000325941:D531G	D	+	2	0	RIC8A	204328	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	4.360000	0.59455	2.112000	0.64535	0.533000	0.62120	GAC		0.597	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		4	10	0	0	0	1	0	4	10					G	214328	A	G	214328	3	3	21	1	0	0	0	0	1	0	0	0	13370	275	10	4	1630	4	RIC8A	11	214328	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08		214328	134792188	467	1892										
RASSF7	8045	broad.mit.edu	37	chr11	563280	563280	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaccggggctgcgctgccacCgcccccacggcctgacaggg	15	18	0	1	rs566009663	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:563280C>A	ENST00000397583.3	+	4	1347	c.914C>A	c.(913-915)cCg>cAg	p.P305Q	RASSF7_ENST00000344375.4_Missense_Mutation_p.P305Q|C11orf35_ENST00000329451.3_5'Flank|MIR210HG_ENST00000500447.1_lincRNA|RASSF7_ENST00000454668.2_Missense_Mutation_p.P305Q|RASSF7_ENST00000431809.1_Missense_Mutation_p.P305Q|RASSF7_ENST00000397582.3_Missense_Mutation_p.P305Q	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	305	Pro-rich.				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)		GCGCTGCCACCGCCCCCACGG	0.682																																					Pancreas(184;1170 3913 7268)	ENST00000397583.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8						c.(913-915)cCg>cAg		Ras association (RalGDS/AF-6) domain family (N-terminal) member 7							20	22	21					11																	563280		2202	4299	6501	SO:0001583	missense	8045				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding	g.chr11:563280C>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.914C>A	11.37:g.563280C>A	ENSP00000380713:p.Pro305Gln		Somatic				RASSF7_ENST00000454668.2_Missense_Mutation_p.P305Q|RASSF7_ENST00000431809.1_Missense_Mutation_p.P305Q|RASSF7_ENST00000397582.3_Missense_Mutation_p.P305Q|RASSF7_ENST00000344375.4_Missense_Mutation_p.P305Q	p.P305Q	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)	4	1347	+		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)	305			Pro-rich.		G5E9N9|Q3KP41|Q3KP42	Missense_Mutation	SNP	ENST00000397583.3	37	c.914C>A	CCDS7702.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321104	0.60634	.	.	ENSG00000099849	ENST00000431809;ENST00000397582;ENST00000344375;ENST00000397583;ENST00000454668	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.48	3.07	2.15	0.27550	.	0.688144	0.13191	N	0.406743	T	0.31295	0.0792	L	0.51422	1.61	0.09310	N	0.999999	P;P;P	0.49862	0.873;0.929;0.873	P;P;P	0.49922	0.504;0.519;0.626	T	0.12066	-1.0562	10	0.12430	T	0.62	13.6336	7.8012	0.29176	0.0:0.79:0.0:0.21	.	305;305;305	G5E9N9;Q02833;Q02833-2	.;RASF7_HUMAN;.	Q	305	ENSP00000403068:P305Q;ENSP00000380712:P305Q;ENSP00000344226:P305Q;ENSP00000380713:P305Q;ENSP00000405606:P305Q	ENSP00000344226:P305Q	P	+	2	0	RASSF7	553280	0.000000	0.05858	0.002000	0.10522	0.331000	0.28603	0.209000	0.17435	0.496000	0.27904	0.462000	0.41574	CCG		0.682	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254972.2	NM_003475		7	14	1	0	2.0095e-06	1	2.08067e-06	7	14					A	563280	C	A	563280	3	1	21	1	0	0	0	0	1	0	0	0	13106	652	23	5	924	5	RASSF7	11	563280	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	348952	563280	134443236	468	1893										
MUC5B	727897	broad.mit.edu	37	chr11	1265997	1265997	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agcccagggacggcacgcacGcttccagtgtggatcagcac	13	14	1	0	rs551355085	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:1265997G>A	ENST00000529681.1	+	31	7945	c.7887G>A	c.(7885-7887)acG>acA	p.T2629T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T2632T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2629	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|RTL -> LTP (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T2608T(1)|p.T2629T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCACGCACGCTTCCAGTGT	0.637																																						ENST00000447027.1																			2	Substitution - coding silent(2)	p.T2608T(1)|p.T2629T(1)	lung(2)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(7894-7896)acG>acA		mucin 5B, oligomeric mucus/gel-forming							147	178	168					11																	1265997		2123	4233	6356	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1265997G>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.7887G>A	11.37:g.1265997G>A			Somatic				MUC5B_ENST00000529681.1_Silent_p.T2629T|RP11-532E4.2_ENST00000532061.2_RNA	p.T2632T			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	7954	+		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)	2629	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.7896G>A	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		57	79	0	0	0	1	0	57	79					A	1265997	G	A	1265997	2	1	21	1	0	0	0	0	0	0	0	1	9988	1074	38	1		1	MUC5B	11	1265997	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	702717	1265997	133740519	469	1894										
PHLDA2	7262	broad.mit.edu	37	chr11	2950201	2950201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgagggctcggagggtgcggCggccgcggcagccacggcgt	21	13	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:2950201C>T	ENST00000314222.4	-	1	484	c.394G>A	c.(394-396)Gcc>Acc	p.A132T		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	132	Poly-Ala.				apoptotic process (GO:0006915)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|regulation of gene expression (GO:0010468)|regulation of glycogen metabolic process (GO:0070873)	cytoplasm (GO:0005737)|membrane (GO:0016020)				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGGGTGCGGCGGCCGCGGCA	0.756																																						ENST00000314222.4																			0				central_nervous_system(1)	1						c.(394-396)Gcc>Acc		pleckstrin homology-like domain, family A, member 2							4	7	6					11																	2950201		1545	3235	4780	SO:0001583	missense	7262				apoptosis	cytoplasm|membrane		g.chr11:2950201C>T	AF035444	CCDS7741.1	11p15.4	2013-01-10	2003-09-26	2003-10-01	ENSG00000181649	ENSG00000181649		"Pleckstrin homology (PH) domain containing"	12385	protein-coding gene	gene with protein product		602131	"tumor suppressing subtransferable candidate 3"	TSSC3		9328465, 9403053	Standard	NM_003311		Approved	IPL, BWR1C, HLDA2	uc001lxa.1	Q53GA4	OTTHUMG00000010926	ENST00000314222.4:c.394G>A	11.37:g.2950201C>T	ENSP00000319231:p.Ala132Thr		Somatic					p.A132T	NM_003311.3	NP_003302.1	WXS	Illumina GAIIx	Phase_I	Q53GA4	PHLA2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	484	-		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	132			Poly-Ala.		O00496	Missense_Mutation	SNP	ENST00000314222.4	37	c.394G>A	CCDS7741.1	.	.	.	.	.	.	.	.	.	.	C	9.415	1.081429	0.20309	.	.	ENSG00000181649	ENST00000314222	T	0.76448	-1.02	1.01	-1.57	0.08506	.	4.813060	0.02303	U	0.071348	T	0.63010	0.2475	L	0.36672	1.1	0.09310	N	1	B	0.16166	0.016	B	0.08055	0.003	T	0.37686	-0.9695	10	0.09338	T	0.73	.	3.0448	0.06149	0.2992:0.4042:0.2967:0.0	.	132	Q53GA4	PHLA2_HUMAN	T	132	ENSP00000319231:A132T	ENSP00000319231:A132T	A	-	1	0	PHLDA2	2906777	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.033000	0.12246	-0.575000	0.05982	-0.823000	0.03104	GCC		0.756	PHLDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030116.1	NM_003311		6	2	0	0	0	1	0	6	2					T	2950201	C	T	2950201	3	4	21	1	0	0	0	0	1	0	0	0	11858	768	27	1	68	1	PHLDA2	11	2950201	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1684204	2950201	132056315	470	1895										
OR51A7	119687	broad.mit.edu	37	chr11	4928979	4928979	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggaccgctttcttgccattcAcaatcccttaagatacagtt	6	12	2	1	rs551503798		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:4928979A>G	ENST00000359350.4	+	1	380	c.380A>G	c.(379-381)cAc>cGc	p.H127R	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	127						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)		CTTGCCATTCACAATCCCTTA	0.403													A|||	1	0.000199681	0	0	5008	,	,		22237	0		0	False		,,,				2504	0.001					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.(379-381)cAc>cGc		olfactory receptor, family 51, subfamily A, member 7							100	96	98					11																	4928979		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4928979A>G	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.380A>G	11.37:g.4928979A>G	ENSP00000352305:p.His127Arg		Somatic				MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.H127R	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	380	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	127					Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.380A>G	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.473250	0.01044	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.19250	2.16	5.02	1.4	0.22301	GPCR, rhodopsin-like superfamily (1);	0.131624	0.34676	N	0.003770	T	0.07369	0.0186	N	0.02391	-0.57	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30475	-0.9977	10	0.37606	T	0.19	.	7.7903	0.29116	0.5884:0.0:0.4116:0.0	.	127	Q8NH64	O51A7_HUMAN	R	127;127;116	ENSP00000352305:H127R	ENSP00000352305:H127R	H	+	2	0	OR51A7	4885555	0.000000	0.05858	0.411000	0.26484	0.285000	0.27093	-0.394000	0.07296	0.395000	0.25257	-0.274000	0.10170	CAC		0.403	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		34	44	0	0	0	1	0	34	44					G	4928979	A	G	4928979	3	3	21	1	0	0	0	0	1	0	0	0	11097	159	6	4	382	4	OR51A7	11	4928979	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	1978778	4928979	130077537	471	1896										
FAM160A2	84067	broad.mit.edu	37	chr11	6238902	6238902	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccctcaggccatgatcctggCactccattgagctggggagg	13	13	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:6238902C>T	ENST00000449352.2	-	9	2177	c.1914G>A	c.(1912-1914)gtG>gtA	p.V638V	FAM160A2_ENST00000524416.1_Silent_p.V638V|FAM160A2_ENST00000265978.4_Silent_p.V652V|FAM160A2_ENST00000529360.1_5'Flank			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	638					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGATCCTGGCACTCCATTGA	0.672																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1954-1956)gtG>gtA		family with sequence similarity 160, member A2							34	36	35					11																	6238902		2201	4296	6497	SO:0001819	synonymous_variant	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6238902C>T		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1914G>A	11.37:g.6238902C>T			Somatic				FAM160A2_ENST00000524416.1_Silent_p.V638V|FAM160A2_ENST00000449352.2_Silent_p.V638V	p.V652V	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	WXS	Illumina GAIIx	Phase_I	Q8N612	F16A2_HUMAN			9	2314	-			638					Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	c.1956G>A	CCDS44530.1																																																																																				0.672	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		18	33	0	0	0	1	0	18	33					T	6238902	C	T	6238902	2	4	21	1	0	0	0	0	0	0	0	1	5474	697	25	3		3	FAM160A2	11	6238902	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1309923	6238902	128767614	472	1897										
TRIM3	10612	broad.mit.edu	37	chr11	6478961	6478961	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcgagctggcgctgcagggcCgccttgtgctgctccaccac	13	16	0	0	rs116462813		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:6478961C>T	ENST00000525074.1	-	4	874	c.480G>A	c.(478-480)gcG>gcA	p.A160A	TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_Silent_p.A160A|TRIM3_ENST00000536344.1_Silent_p.A41A|TRIM3_ENST00000359518.3_Silent_p.A160A|TRIM3_ENST00000537602.1_Silent_p.A160A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	160					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGCAGGGCCGCCTTGTGCT	0.687													C|||	1	0.000199681	0	0	5008	,	,		15672	0		0.001	False		,,,				2504	0				Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(478-480)gcG>gcA		tripartite motif containing 3							50	49	49					11																	6478961		2200	4296	6496	SO:0001819	synonymous_variant	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6478961C>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.480G>A	11.37:g.6478961C>T			Somatic				TRIM3_ENST00000536344.1_Silent_p.A41A|TRIM3_ENST00000537602.1_Silent_p.A160A|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_Silent_p.A160A|TRIM3_ENST00000359518.3_Silent_p.A160A	p.A160A	NM_001248006.1	NP_001234935.1	WXS	Illumina GAIIx	Phase_I	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	874	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	160					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	ENST00000525074.1	37	c.480G>A	CCDS7764.1																																																																																				0.687	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		39	61	0	0	0	1	0	39	61					T	6478961	C	T	6478961	2	4	21	1	0	0	0	0	0	0	0	1	16519	639	23	1		1	TRIM3	11	6478961	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	240059	6478961	128527555	473	1898										
FXC1	26515	broad.mit.edu	37	chr11	6503065	6503065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgcccagcttgcaccaccgaGctctggacgctgaggaggtg	14	13	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:6503065G>T	ENST00000254616.6	+	2	188	c.118G>T	c.(118-120)Gct>Tct	p.A40S	ARFIP2_ENST00000445086.2_5'Flank|ARFIP2_ENST00000525235.1_5'Flank|TIMM10B_ENST00000472836.1_Missense_Mutation_p.A40S|TIMM10B_ENST00000530751.1_Intron|ARFIP2_ENST00000254584.2_5'Flank|ARFIP2_ENST00000423813.2_5'Flank|ARFIP2_ENST00000396777.3_5'Flank	NM_012192.3	NP_036324.1	Q9Y5J6	T10B_HUMAN	translocase of inner mitochondrial membrane 10 homolog B (yeast)	40					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)	metal ion binding (GO:0046872)										GCACCACCGAGCTCTGGACGC	0.572																																						ENST00000254616.6																			0											c.(118-120)Gct>Tct		translocase of inner mitochondrial membrane 10 homolog B (yeast)							72	67	69					11																	6503065		2201	4296	6497	SO:0001583	missense	26515							g.chr11:6503065G>T	AF150105	CCDS7766.1	11p15.4	2012-12-07	2012-12-07	2012-12-07	ENSG00000132286	ENSG00000132286			4022	protein-coding gene	gene with protein product		607388	"fracture callus 1 (rat) homolog", "fracture callus 1 homolog (rat)"	FXC1		10552927	Standard	NM_012192		Approved	Tim9b, TIM10B	uc001mdn.4	Q9Y5J6	OTTHUMG00000133400	ENST00000254616.6:c.118G>T	11.37:g.6503065G>T	ENSP00000254616:p.Ala40Ser		Somatic				TIMM10B_ENST00000530751.1_Intron|TIMM10B_ENST00000472836.1_Missense_Mutation_p.A40S	p.A40S	NM_012192.3	NP_036324.1	WXS	Illumina GAIIx	Phase_I					2	188	+								Q96FF3	Missense_Mutation	SNP	ENST00000254616.6	37	c.118G>T	CCDS7766.1	.	.	.	.	.	.	.	.	.	.	G	7.655	0.683722	0.14907	.	.	ENSG00000132286	ENST00000254616;ENST00000533379	T;T	0.61627	0.09;0.09	5.82	2.91	0.33838	.	0.208527	0.49305	D	0.000143	T	0.21921	0.0528	N	0.01656	-0.775	0.80722	D	1	B	0.21905	0.062	B	0.23716	0.048	T	0.04307	-1.0961	10	0.08381	T	0.77	-14.3477	4.022	0.09670	0.1283:0.1308:0.606:0.1349	.	40	Q9Y5J6	TIM9B_HUMAN	S	40	ENSP00000254616:A40S;ENSP00000436948:A40S	ENSP00000254616:A40S	A	+	1	0	FXC1	6459641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.652000	0.54439	0.357000	0.24183	0.563000	0.77884	GCT		0.572	TIMM10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257257.2	NM_012192		29	42	1	0	2.12542e-12	1	2.26763e-12	29	42					T	6503065	G	T	6503065	3	4	21	1	0	0	0	0	1	0	0	0	6121	971	34	5	124	5	FXC1	11	6503065	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	24104	6503065	128503451	474	1899										
ST5	6764	broad.mit.edu	37	chr11	8720914	8720914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggtagagcaaggccaccaccGcgtgggagcagctggagagg	18	10	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:8720914G>A	ENST00000534127.1	-	18	3129	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	ST5_ENST00000530438.1_Missense_Mutation_p.A495V|ST5_ENST00000313726.6_Missense_Mutation_p.A915V|ST5_ENST00000357665.1_Missense_Mutation_p.A915V|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000526099.1_Missense_Mutation_p.A428V|ST5_ENST00000530991.1_Missense_Mutation_p.A387V|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526757.1_Missense_Mutation_p.A495V|ST5_ENST00000534278.1_Missense_Mutation_p.A106V	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	915	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)			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)		GGCCACCACCGCGTGGGAGCA	0.617																																						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.(2743-2745)gCg>gTg		suppression of tumorigenicity 5							44	47	46					11																	8720914		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8720914G>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.2744C>T	11.37:g.8720914G>A	ENSP00000433528:p.Ala915Val		Somatic				ST5_ENST00000526099.1_Missense_Mutation_p.A428V|ST5_ENST00000526757.1_Missense_Mutation_p.A495V|ST5_ENST00000534278.1_Missense_Mutation_p.A106V|ST5_ENST00000530438.1_Missense_Mutation_p.A495V|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.A915V|ST5_ENST00000357665.1_Missense_Mutation_p.A915V|ST5_ENST00000530991.1_Missense_Mutation_p.A387V	p.A915V	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)	18	3129	-			915			DENN.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.2744C>T	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320936	0.95682	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438;ENST00000533081	T;T;T;T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15	5.82	5.82	0.92795	DENN (3);	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	M	0.91249	3.19	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.998	P;D;D	0.70227	0.899;0.948;0.968	T	0.66176	-0.5989	10	0.87932	D	0	-10.7562	20.0852	0.97797	0.0:0.0:1.0:0.0	.	428;495;915	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	V	495;915;915;387;915;428;106;495;105	ENSP00000435097:A495V;ENSP00000433528:A915V;ENSP00000319678:A915V;ENSP00000432887:A387V;ENSP00000350294:A915V;ENSP00000436808:A428V;ENSP00000433349:A106V;ENSP00000436802:A495V;ENSP00000436067:A105V	ENSP00000319678:A915V	A	-	2	0	ST5	8677490	1.000000	0.71417	0.621000	0.29145	0.963000	0.63663	9.441000	0.97557	2.756000	0.94617	0.561000	0.74099	GCG		0.617	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		30	23	0	0	0	1	0	30	23					A	8720914	G	A	8720914	3	1	21	1	0	0	0	0	1	0	0	0	15235	1087	38	1	693	1	ST5	11	8720914	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2217849	8720914	126285602	475	1900										
IPO7	10527	broad.mit.edu	37	chr11	9452491	9452491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtgatgacaaagcagttactGctatgggaattctgaataca	10	6	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:9452491G>A	ENST00000379719.3	+	16	1964	c.1822G>A	c.(1822-1824)Gct>Act	p.A608T	CTD-2371O3.2_ENST00000531111.1_RNA|SNORA23_ENST00000365128.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	608					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)		AGCAGTTACTGCTATGGGAAT	0.363																																						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.(1822-1824)Gct>Act		importin 7							102	93	96					11																	9452491		2201	4295	6496	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.chr11:9452491G>A	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.1822G>A	11.37:g.9452491G>A	ENSP00000369042:p.Ala608Thr		Somatic				CTD-2371O3.2_ENST00000531111.1_RNA	p.A608T	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)	16	1964	+			608					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.1822G>A	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	36	5.672686	0.96754	.	.	ENSG00000205339	ENST00000379719	T	0.67523	-0.27	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85124	0.5625	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.86199	0.1617	10	0.49607	T	0.09	.	19.4518	0.94871	0.0:0.0:1.0:0.0	.	608	O95373	IPO7_HUMAN	T	608	ENSP00000369042:A608T	ENSP00000369042:A608T	A	+	1	0	IPO7	9409067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.615000	0.88500	0.650000	0.86243	GCT		0.363	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		25	27	0	0	0	1	0	25	27					A	9452491	G	A	9452491	3	1	21	1	0	0	0	0	1	0	0	0	7806	1319	46	3	1884	3	IPO7	11	9452491	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	731577	9452491	125554025	476	1901										
EIF4G2	1982	broad.mit.edu	37	chr11	10825100	10825100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggcactccaaatcctctcccAtatctttgagttggactctc	6	14	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:10825100A>G	ENST00000526148.1	-	9	1250	c.740T>C	c.(739-741)aTg>aCg	p.M247T	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.M247T|EIF4G2_ENST00000525995.1_5'Flank|EIF4G2_ENST00000525681.1_Missense_Mutation_p.M247T|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.M247T	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATCCTCTCCCATATCTTTGAG	0.423																																						ENST00000526148.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(739-741)aTg>aCg		eukaryotic translation initiation factor 4 gamma, 2							154	141	145					11																	10825100		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10825100A>G	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.740T>C	11.37:g.10825100A>G	ENSP00000433664:p.Met247Thr		Somatic				EIF4G2_ENST00000396525.2_Missense_Mutation_p.M247T|EIF4G2_ENST00000339995.5_Missense_Mutation_p.M247T|EIF4G2_ENST00000525681.1_Missense_Mutation_p.M247T	p.M247T	NM_001172705.1	NP_001166176.1	WXS	Illumina GAIIx	Phase_I	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	9	1250	-			247			MIF4G.			Missense_Mutation	SNP	ENST00000526148.1	37	c.740T>C	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123211	0.56613	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416;ENST00000532082	T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99	6.07	6.07	0.98685	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.13157	0.0319	N	0.08118	0	0.53688	D	0.999973	B;B;B	0.23735	0.074;0.09;0.09	B;B;B	0.26693	0.043;0.072;0.072	T	0.26430	-1.0103	9	0.20046	T	0.44	-8.5202	16.6406	0.85098	1.0:0.0:0.0:0.0	.	247;247;320	P78344-2;P78344;B4DZF2	.;IF4G2_HUMAN;.	T	247;247;247;247;320;247;247	ENSP00000433664:M247T;ENSP00000433371:M247T;ENSP00000340281:M247T;ENSP00000379778:M247T;ENSP00000431583:M247T;ENSP00000433121:M247T	ENSP00000340281:M247T	M	-	2	0	EIF4G2	10781676	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.268000	0.95675	2.326000	0.78906	0.533000	0.62120	ATG		0.423	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		29	51	0	0	0	1	0	29	51					G	10825100	A	G	10825100	3	3	21	1	0	0	0	0	1	0	0	0	5039	217	8	4	2039	4	EIF4G2	11	10825100	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	1372609	10825100	124181416	477	1902										
MICAL2	9645	broad.mit.edu	37	chr11	12246317	12246317	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gacctgaccacatcctggcgCagtgggttggccctgtgtgc	14	13	0	1	rs182608997	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:12246317C>T	ENST00000256194.4	+	13	1926	c.1638C>T	c.(1636-1638)cgC>cgT	p.R546R	MICAL2_ENST00000379612.3_Silent_p.R546R|MICAL2_ENST00000342902.5_Silent_p.R546R|MICAL2_ENST00000527546.1_Silent_p.R546R|MICAL2_ENST00000537344.1_Silent_p.R546R	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	546	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CATCCTGGCGCAGTGGGTTGG	0.637																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(1636-1638)cgC>cgT		microtubule associated monooxygenase, calponin and LIM domain containing 2							108	89	95					11																	12246317		2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12246317C>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1638C>T	11.37:g.12246317C>T			Somatic				MICAL2_ENST00000342902.5_Silent_p.R546R|MICAL2_ENST00000379612.3_Silent_p.R546R|MICAL2_ENST00000537344.1_Silent_p.R546R|MICAL2_ENST00000527546.1_Silent_p.R546R	p.R546R	NM_014632.2	NP_055447.1	WXS	Illumina GAIIx	Phase_I	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	13	1926	+			546			CH.		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.1638C>T	CCDS7809.1																																																																																				0.637	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		32	23	0	0	0	1	0	32	23					T	12246317	C	T	12246317	2	4	21	1	0	0	0	0	0	0	0	1	9579	697	25	3		3	MICAL2	11	12246317	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1421217	12246317	122760199	478	1903										
HPS5	11234	broad.mit.edu	37	chr11	18301454	18301454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cctgctgggaccagagaaacCgatcgcatttttcaagcatg	10	11	1	1	rs201017833		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:18301454C>T	ENST00000349215.3	-	23	3642	c.3365G>A	c.(3364-3366)cGg>cAg	p.R1122Q	HPS5_ENST00000352460.3_5'Flank|HPS5_ENST00000438420.2_Missense_Mutation_p.R1008Q|HPS5_ENST00000396253.3_Missense_Mutation_p.R1008Q|HPS5_ENST00000537258.1_3'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1122					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						CCAGAGAAACCGATCGCATTT	0.403									Hermansky-Pudlak syndrome				C|||	1	0.000199681	0	0	5008	,	,		21309	0.001		0	False		,,,				2504	0					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.(3022-3024)cGg>cAg		Hermansky-Pudlak syndrome 5							95	90	92					11																	18301454		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18301454C>T	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.3365G>A	11.37:g.18301454C>T	ENSP00000265967:p.Arg1122Gln		Somatic				HPS5_ENST00000537258.1_3'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.R1008Q|HPS5_ENST00000349215.3_Missense_Mutation_p.R1122Q	p.R1008Q	NM_007216.3	NP_009147.3	WXS	Illumina GAIIx	Phase_I	Q9UPZ3	HPS5_HUMAN			22	3485	-			1122					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.3023G>A	CCDS7836.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	24.4	4.526374	0.85600	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.59224	0.28;0.28;0.29	5.55	5.55	0.83447	.	0.058472	0.64402	D	0.000001	T	0.48714	0.1515	N	0.25647	0.755	0.80722	D	1	D	0.58970	0.984	P	0.44477	0.451	T	0.51779	-0.8662	10	0.49607	T	0.09	.	15.0033	0.71492	0.0:1.0:0.0:0.0	.	1122	Q9UPZ3	HPS5_HUMAN	Q	1008;1008;1122	ENSP00000379552:R1008Q;ENSP00000399590:R1008Q;ENSP00000265967:R1122Q	ENSP00000265967:R1122Q	R	-	2	0	HPS5	18258030	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.992000	0.63889	2.600000	0.87896	0.561000	0.74099	CGG		0.403	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		20	34	0	0	0	1	0	20	34					T	18301454	C	T	18301454	3	4	21	1	0	0	0	0	1	0	0	0	7351	652	23	1	28	1	HPS5	11	18301454	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	6055137	18301454	116705062	479	1904										
E2F8	79733	broad.mit.edu	37	chr11	19255993	19255993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctaggcttactatctgaggcGttgacaccaaaaacagcatc	8	11	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:19255993G>A	ENST00000527884.1	-	6	1074	c.842C>T	c.(841-843)aCg>aTg	p.T281M	E2F8_ENST00000250024.4_Missense_Mutation_p.T281M|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	281					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						TATCTGAGGCGTTGACACCAA	0.403																																						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.(841-843)aCg>aTg		E2F transcription factor 8							162	163	162					11																	19255993		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19255993G>A		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.842C>T	11.37:g.19255993G>A	ENSP00000434199:p.Thr281Met		Somatic				RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.T281M	p.T281M	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	WXS	Illumina GAIIx	Phase_I	A0AVK6	E2F8_HUMAN			6	1074	-			281					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.842C>T	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.080150	0.55753	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024	T;T	0.18502	2.21;2.21	5.37	5.37	0.77165	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.220215	0.46442	D	0.000297	T	0.28333	0.0700	L	0.27053	0.805	0.09310	N	0.999999	D	0.89917	1.0	D	0.73380	0.98	T	0.06427	-1.0827	10	0.66056	D	0.02	-3.4023	13.6524	0.62318	0.0:0.0:0.8452:0.1547	.	281	A0AVK6	E2F8_HUMAN	M	281	ENSP00000434199:T281M;ENSP00000250024:T281M	ENSP00000250024:T281M	T	-	2	0	E2F8	19212569	0.995000	0.38212	0.998000	0.56505	0.993000	0.82548	4.788000	0.62439	2.520000	0.84964	0.655000	0.94253	ACG		0.403	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		82	105	0	0	0	1	0	82	105					A	19255993	G	A	19255993	3	1	21	1	0	0	0	0	1	0	0	0	4875	1145	40	1	1793	1	E2F8	11	19255993	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	954539	19255993	115750523	480	1905										
LGR4	55366	broad.mit.edu	37	chr11	27406980	27406980	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caagtccttcaaaactgtccTcggggactgaggtaatatgg	11	9	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:27406980T>C	ENST00000379214.4	-	5	880	c.437A>G	c.(436-438)gAg>gGg	p.E146G	LGR4_ENST00000389858.4_Missense_Mutation_p.E122G|LGR4_ENST00000480977.2_Missense_Mutation_p.E98G	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	146					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AAAACTGTCCTCGGGGACTGA	0.473																																						ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(436-438)gAg>gGg		leucine-rich repeat containing G protein-coupled receptor 4							90	79	83					11																	27406980		2202	4299	6501	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27406980T>C	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.437A>G	11.37:g.27406980T>C	ENSP00000368516:p.Glu146Gly		Somatic				LGR4_ENST00000389858.4_Missense_Mutation_p.E122G|LGR4_ENST00000480977.2_Missense_Mutation_p.E98G	p.E146G	NM_018490.2	NP_060960.2	WXS	Illumina GAIIx	Phase_I	Q9BXB1	LGR4_HUMAN			5	880	-			146					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.437A>G	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.858911	0.91433	.	.	ENSG00000205213	ENST00000379214;ENST00000389858;ENST00000480977	T;T;T	0.58506	3.62;4.27;0.33	5.79	5.79	0.91817	.	0.171099	0.50627	D	0.000102	T	0.54631	0.1870	N	0.16862	0.45	0.48087	D	0.999588	P;P	0.46512	0.57;0.879	B;P	0.53760	0.363;0.734	T	0.52117	-0.8618	10	0.23891	T	0.37	.	16.1341	0.81471	0.0:0.0:0.0:1.0	.	122;146	G5E9B3;Q9BXB1	.;LGR4_HUMAN	G	146;122;98	ENSP00000368516:E146G;ENSP00000374508:E122G;ENSP00000431650:E98G	ENSP00000368516:E146G	E	-	2	0	LGR4	27363556	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.898000	0.63238	2.200000	0.70718	0.455000	0.32223	GAG		0.473	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		22	28	0	0	0	1	0	22	28					C	27406980	T	C	27406980	3	2	21	1	0	0	0	0	1	0	0	0	8765	1551	54	4	2474	4	LGR4	11	27406980	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	8150987	27406980	107599536	481	1906										
C11orf46	120534	broad.mit.edu	37	chr11	30354531	30354531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tacaaaaaatgcaaccgctgGttcagacaggtaggctaagt	10	8	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:30354531G>A	ENST00000282032.3	+	3	760	c.545G>A	c.(544-546)gGt>gAt	p.G182D		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	182						cytoplasm (GO:0005737)											GCAACCGCTGGTTCAGACAGG	0.378																																						ENST00000282032.3																			0											c.(544-546)gGt>gAt		ADP-ribosylation factor-like 14 effector protein							61	59	60					11																	30354531		2202	4299	6501	SO:0001583	missense	120534							g.chr11:30354531G>A	AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"chromosome 11 open reading frame 46"	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.545G>A	11.37:g.30354531G>A	ENSP00000282032:p.Gly182Asp		Somatic					p.G182D	NM_152316.1	NP_689529.1	WXS	Illumina GAIIx	Phase_I					3	760	+								Q5HYH9	Missense_Mutation	SNP	ENST00000282032.3	37	c.545G>A	CCDS7869.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314553	0.23908	.	.	ENSG00000152219	ENST00000282032	T	0.63096	-0.02	5.44	3.15	0.36227	.	0.565566	0.18930	N	0.127240	T	0.32224	0.0822	N	0.08118	0	0.23754	N	0.996935	B	0.11235	0.004	B	0.16289	0.015	T	0.11084	-1.0602	10	0.12430	T	0.62	-11.7683	2.8293	0.05495	0.2532:0.2795:0.4673:0.0	.	182	Q8N8R7	CK046_HUMAN	D	182	ENSP00000282032:G182D	ENSP00000282032:G182D	G	+	2	0	C11orf46	30311107	1.000000	0.71417	0.954000	0.39281	0.560000	0.35617	2.684000	0.46951	1.414000	0.47017	0.655000	0.94253	GGT		0.378	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1	NM_152316		26	33	0	0	0	1	0	26	33					A	30354531	G	A	30354531	3	1	21	1	0	0	0	0	1	0	0	0	1645	1261	44	3	551	3	C11orf46	11	30354531	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2947551	30354531	104651985	482	1907										
C11orf41	25758	broad.mit.edu	37	chr11	33581397	33581397	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcgccagcagcctcctcagcCagctctcggctgagctggtg	12	16	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:33581397C>T	ENST00000321505.4	+	6	3247	c.3067C>T	c.(3067-3069)Cag>Tag	p.Q1023*	KIAA1549L_ENST00000265654.5_Nonsense_Mutation_p.Q1029*|KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.Q1029*			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1023						integral component of membrane (GO:0016021)											CCTCCTCAGCCAGCTCTCGGC	0.597																																						ENST00000321505.4																			0											c.(3067-3069)Cag>Tag		KIAA1549-like							116	122	120					11																	33581397		2137	4234	6371	SO:0001587	stop_gained	25758							g.chr11:33581397C>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3067C>T	11.37:g.33581397C>T	ENSP00000315295:p.Gln1023*		Somatic				KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.Q1029*|KIAA1549L_ENST00000265654.5_Nonsense_Mutation_p.Q1029*	p.Q1023*			WXS	Illumina GAIIx	Phase_I					6	3247	+								B0QYU0	Nonsense_Mutation	SNP	ENST00000321505.4	37	c.3067C>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	44	10.708088	0.99454	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.45	5.45	0.79879	.	0.226336	0.48767	D	0.000178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.6182	15.1597	0.72775	0.0:0.8593:0.1407:0.0	.	.	.	.	X	1023;1029;1029;862	.	ENSP00000265654:Q1029X	Q	+	1	0	C11orf41	33537973	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.642000	0.67888	2.715000	0.92844	0.573000	0.79308	CAG		0.597	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		59	99	0	0	0	1	0	59	99					T	33581397	C	T	33581397	4	4	21	1	0	0	0	0	0	1	0	0	1642	595	21	3	3107	3	C11orf41	11	33581397	Nonsense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3226866	33581397	101425119	483	1908										
EHF	26298	broad.mit.edu	37	chr11	34668216	34668216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcctctacagcaacttgcagCatctgaagtggaacggtgac	10	11	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:34668216C>T	ENST00000533754.1	+	3	545	c.328C>T	c.(328-330)Cat>Tat	p.H110Y	EHF_ENST00000527935.1_Missense_Mutation_p.H110Y|EHF_ENST00000530286.1_Missense_Mutation_p.H110Y|EHF_ENST00000257831.3_Missense_Mutation_p.H110Y|EHF_ENST00000531728.1_Missense_Mutation_p.H110Y|EHF_ENST00000450654.2_Missense_Mutation_p.H110Y|EHF_ENST00000531794.1_Missense_Mutation_p.H132Y					ets homologous factor										NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			CAACTTGCAGCATCTGAAGTG	0.552																																						ENST00000257831.3																		NFIA/EHF(2)	0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17						c.(328-330)Cat>Tat		ets homologous factor							109	108	108					11																	34668216		2202	4298	6500	SO:0001583	missense	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34668216C>T	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"epithelium-specific ets factor 3", "ESE3 transcription factor"	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.328C>T	11.37:g.34668216C>T	ENSP00000435837:p.His110Tyr		Somatic				EHF_ENST00000530286.1_Missense_Mutation_p.H110Y|EHF_ENST00000531728.1_Missense_Mutation_p.H110Y|EHF_ENST00000527935.1_Missense_Mutation_p.H110Y|EHF_ENST00000531794.1_Missense_Mutation_p.H132Y|EHF_ENST00000533754.1_Missense_Mutation_p.H110Y|EHF_ENST00000450654.2_Missense_Mutation_p.H110Y	p.H110Y	NM_012153.5	NP_036285.2	WXS	Illumina GAIIx	Phase_I	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		3	449	+		all_hematologic(20;0.117)	110			PNT.			Missense_Mutation	SNP	ENST00000533754.1	37	c.328C>T	CCDS7894.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987820	0.74589	.	.	ENSG00000135373	ENST00000257831;ENST00000450654;ENST00000530286;ENST00000533754;ENST00000529527;ENST00000531728;ENST00000525253;ENST00000531794;ENST00000532302;ENST00000527935	T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.24	5.24	0.73138	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.324406	0.36740	N	0.002440	T	0.27134	0.0665	N	0.02539	-0.55	0.44030	D	0.99675	D;D;D	0.56521	0.976;0.962;0.969	P;D;P	0.66716	0.665;0.946;0.665	T	0.36040	-0.9764	9	.	.	.	.	13.7639	0.62983	0.1535:0.8465:0.0:0.0	.	132;110;110	E9PSB2;Q9NZC4-2;Q9NZC4	.;.;EHF_HUMAN	Y	110;110;110;110;110;110;110;132;110;110	ENSP00000257831:H110Y;ENSP00000399733:H110Y;ENSP00000433508:H110Y;ENSP00000435837:H110Y;ENSP00000432905:H110Y;ENSP00000436357:H110Y;ENSP00000434395:H110Y;ENSP00000435835:H132Y;ENSP00000432460:H110Y;ENSP00000436158:H110Y	.	H	+	1	0	EHF	34624792	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.698000	0.61789	2.454000	0.82982	0.555000	0.69702	CAT		0.552	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		97	140	0	0	0	1	0	97	140					T	34668216	C	T	34668216	3	4	21	1	0	0	0	0	1	0	0	0	4983	710	25	3	334	3	EHF	11	34668216	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1086819	34668216	100338300	484	1909										
MAPK8IP1	9479	broad.mit.edu	37	chr11	45924624	45924624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggaatatgaggaggccccgCggccccagccccctgcctgc	13	17	0	1	rs375735836		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:45924624C>T	ENST00000241014.2	+	5	1476	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	RP11-618K13.2_ENST00000533218.1_RNA|MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.R426W	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	436	Interaction with MAP3K7.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GGAGGCCCCGCGGCCCCAGCC	0.602																																						ENST00000395629.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24						c.(1276-1278)Cgg>Tgg		mitogen-activated protein kinase 8 interacting protein 1		C	TRP/ARG	1,4405		0,1,2202	27	31	30		1306	4	1	11		30	0,8598		0,0,4299	no	missense	MAPK8IP1	NM_005456.3	101	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	436/712	45924624	1,13003	2203	4299	6502	SO:0001583	missense	9479				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	g.chr11:45924624C>T		CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1306C>T	11.37:g.45924624C>T	ENSP00000241014:p.Arg436Trp		Somatic				MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.R436W	p.R426W			WXS	Illumina GAIIx	Phase_I	Q9UQF2	JIP1_HUMAN		GBM - Glioblastoma multiforme(35;0.231)	5	1606	+			436					D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	c.1276C>T	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774699	0.70107	2.27E-4	0.0	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.24151	1.87;1.87	4.98	4.04	0.47022	Src homology-3 domain (1);	0.435017	0.23241	N	0.050352	T	0.32346	0.0826	L	0.44542	1.39	0.37080	D	0.898946	D	0.64830	0.994	P	0.50192	0.634	T	0.41052	-0.9530	10	0.72032	D	0.01	-11.0426	15.2271	0.73359	0.0:0.8587:0.1412:0.0	.	436	Q9UQF2	JIP1_HUMAN	W	436;426	ENSP00000241014:R436W;ENSP00000378991:R426W	ENSP00000241014:R436W	R	+	1	2	MAPK8IP1	45881200	0.872000	0.30054	0.995000	0.50966	0.981000	0.71138	0.114000	0.15520	1.272000	0.44329	0.561000	0.74099	CGG		0.602	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456		18	32	0	0	0	1	0	18	32					T	45924624	C	T	45924624	3	4	21	1	0	0	0	0	1	0	0	0	9293	759	27	1	1324	1	MAPK8IP1	11	45924624	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	11256408	45924624	89081892	485	1910										
KIAA0652	9776	broad.mit.edu	37	chr11	46667538	46667538	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gatttcacttaagacttctgAggtaaggctatggccaggtt	11	7	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:46667538A>G	ENST00000434074.1	+	4	958	c.269A>G	c.(268-270)gAg>gGg	p.E90G	ATG13_ENST00000524625.1_Splice_Site_p.E90G|ATG13_ENST00000359513.4_Splice_Site_p.E90G|ATG13_ENST00000528494.1_Splice_Site_p.E90G|ATG13_ENST00000529655.1_Splice_Site_p.E90G|ATG13_ENST00000451945.1_Splice_Site_p.E90G|ATG13_ENST00000312040.4_Splice_Site_p.E90G|ATG13_ENST00000530500.1_Splice_Site_p.E11G|ATG13_ENST00000526508.1_Splice_Site_p.E90G	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	90					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						AAGACTTCTGAGGTAAGGCTA	0.502																																						ENST00000434074.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						c.e4+1		autophagy related 13							122	113	116					11																	46667538		2201	4299	6500	SO:0001630	splice_region_variant	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46667538A>G	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.270+1A>G	11.37:g.46667538A>G			Somatic				ATG13_ENST00000526508.1_Splice_Site_p.E90_splice|ATG13_ENST00000530500.1_Splice_Site_p.E11_splice|ATG13_ENST00000528494.1_Splice_Site_p.E90_splice|ATG13_ENST00000451945.1_Splice_Site_p.E90_splice|ATG13_ENST00000529655.1_Splice_Site_p.E90_splice|ATG13_ENST00000524625.1_Splice_Site_p.E90_splice|ATG13_ENST00000312040.4_Splice_Site_p.E90_splice|ATG13_ENST00000359513.4_Splice_Site_p.E90_splice	p.E90_splice	NM_001205120.1	NP_001192049.1	WXS	Illumina GAIIx	Phase_I	O75143	ATG13_HUMAN			4	958	+			90					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Splice_Site	SNP	ENST00000434074.1	37	c.270_splice	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.843312	0.91197	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000533325;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000526078	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.77226	0.4099	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.81914	0.99;0.988;0.995;0.983	T	0.78383	-0.2225	9	0.51188	T	0.08	-18.5147	15.6207	0.76805	1.0:0.0:0.0:0.0	.	11;90;90;90	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	G	90;90;90;90;90;90;11;90;90;90;90;90	.	ENSP00000310321:E90G	E	+	2	0	ATG13	46624114	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	9.249000	0.95470	2.086000	0.62901	0.460000	0.39030	GAG		0.502	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741	Missense_Mutation	25	31	0	0	0	1	0	25	31					G	46667538	A	G	46667538	5	3	21	1	0	0	0	0	0	0	1	0	8197	318	11	4	279	4	KIAA0652	11	46667538	Splice_Site	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	742914	46667538	88338978	486	1911										
ZNF408	79797	broad.mit.edu	37	chr11	46724534	46724534	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gctgttactttgctttgcagCttggtacaacggggcaggct	13	9	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:46724534C>T	ENST00000311764.2	+	4	623	c.393C>T	c.(391-393)agC>agT	p.S131S	ARHGAP1_ENST00000311956.4_5'Flank	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	131					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						TGCTTTGCAGCTTGGTACAAC	0.577																																					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.e4-1		zinc finger protein 408							83	76	79					11																	46724534		2201	4299	6500	SO:0001630	splice_region_variant	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46724534C>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.393-1C>T	11.37:g.46724534C>T			Somatic					p.S131_splice	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	WXS	Illumina GAIIx	Phase_I	Q9H9D4	ZN408_HUMAN			4	623	+			131						Splice_Site	SNP	ENST00000311764.2	37	c.392_splice	CCDS7923.1																																																																																				0.577	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741	Silent	30	39	0	0	0	1	0	30	39					T	46724534	C	T	46724534	5	4	21	1	0	0	0	0	0	0	1	0	17903	811	28	3	439	3	ZNF408	11	46724534	Splice_Site	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	56996	46724534	88281982	487	1912										
LRP4	4038	broad.mit.edu	37	chr11	46912011	46912011	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	catgctggaggcctcaatacGgggggtgttgccccagtctg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:46912011delG	ENST00000378623.1	-	14	1974	c.1732delC	c.(1732-1734)cgtfs	p.R578fs		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	578					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)		GCCTCAATACGGGGGGTGTTG	0.542											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(1732-1734)gtfs		low density lipoprotein receptor-related protein 4							38	37	37					11																	46912011		2201	4299	6500	SO:0001589	frameshift_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46912011delG	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.1732delC	11.37:g.46912011delG	ENSP00000367888:p.Arg578fs		Somatic	OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942		p.R578fs	NM_002334.3	NP_002325.2	WXS	Illumina GAIIx	Phase_I	O75096	LRP4_HUMAN		Lung(87;0.159)	14	1974	-			578					B2RN39|Q4AC85|Q5KTZ5	Frame_Shift_Del	DEL	ENST00000378623.1	37	c.1732delC	CCDS31478.1																																																																																				0.542	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		13	35						13	35	---	---	---	---	-	46912011	G	-	46912011	7	5	21	1	0	1	0	1	0	0	0	0	8968	1116	39	0	4085	0	LRP4	11	46912011	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	187477	46912011	88094505	488	1913										
PACSIN3	29763	broad.mit.edu	37	chr11	47200457	47200457	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gctctcaccctggggaccccGgggactggggtgggggtgcg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:47200457delG	ENST00000539589.1	-	9	1367	c.1025delC	c.(1024-1026)ccgfs	p.P342fs	ARFGAP2_ENST00000419701.2_5'Flank|ARFGAP2_ENST00000524782.1_5'Flank|PACSIN3_ENST00000298838.6_Frame_Shift_Del_p.P342fs|ARFGAP2_ENST00000319543.6_5'Flank|ARFGAP2_ENST00000395449.3_5'Flank|ARFGAP2_ENST00000426335.2_5'Flank	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	342					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						TGGGGACCCCGGGGACTGGGG	0.602																																						ENST00000539589.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						c.(1024-1026)cgfs		protein kinase C and casein kinase substrate in neurons 3							46	50	48					11																	47200457		2201	4298	6499	SO:0001589	frameshift_variant	29763				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	g.chr11:47200457delG	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"syndapin III"	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.1025delC	11.37:g.47200457delG	ENSP00000440945:p.Pro342fs		Somatic				PACSIN3_ENST00000298838.6_Frame_Shift_Del_p.P342fs	p.P342fs	NM_001184975.1	NP_001171904.1	WXS	Illumina GAIIx	Phase_I	Q9UKS6	PACN3_HUMAN			9	1367	-			342					A6NH84|Q9H331|Q9NWV9	Frame_Shift_Del	DEL	ENST00000539589.1	37	c.1025delC	CCDS31481.1																																																																																				0.602	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223		28	62						28	62	---	---	---	---	-	47200457	G	-	47200457	7	5	21	1	0	1	0	1	0	0	0	0	11385	1116	39	0	261	0	PACSIN3	11	47200457	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	288446	47200457	87806059	489	1914										
OR4C6	219432	broad.mit.edu	37	chr11	55432816	55432816	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agtctgaggtcacctatgtaTttttttcttaccttcttgtc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:55432816delT	ENST00000314259.3	+	1	203	c.174delT	c.(172-174)tatfs	p.Y58fs		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	58						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						CACCTATGTATTTTTTTCTTA	0.423																																						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.(172-174)tafs		olfactory receptor, family 4, subfamily C, member 6							296	260	272					11																	55432816		2200	4296	6496	SO:0001589	frameshift_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432816delT	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.174delT	11.37:g.55432816delT	ENSP00000324769:p.Tyr58fs		Somatic					p.Y58fs	NM_001004704.1	NP_001004704.1	WXS	Illumina GAIIx	Phase_I	Q8NH72	OR4C6_HUMAN			1	203	+			58					B2RP11|Q6IFD2	Frame_Shift_Del	DEL	ENST00000314259.3	37	c.174delT	CCDS31506.1																																																																																				0.423	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		57	92						57	92	---	---	---	---	-	55432816	T	-	55432816	7	5	21	1	0	1	0	1	0	0	0	0	11061	1500	52	0	176	0	OR4C6	11	55432816	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	8232359	55432816	79573700	490	1915										
OR8H3	390152	broad.mit.edu	37	chr11	55890694	55890694	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtgttttatactattgtgatTcccatgctgaatccactcat	6	9	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:55890694T>C	ENST00000313472.3	+	1	846	c.846T>C	c.(844-846)atT>atC	p.I282I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTATTGTGATTCCCATGCTGA	0.368																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(844-846)atT>atC		olfactory receptor, family 8, subfamily H, member 3							103	106	105					11																	55890694		2201	4296	6497	SO:0001819	synonymous_variant	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890694T>C	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.846T>C	11.37:g.55890694T>C			Somatic					p.I282I	NM_001005201.1	NP_001005201.1	WXS	Illumina GAIIx	Phase_I	Q8N146	OR8H3_HUMAN			1	846	+	Esophageal squamous(21;0.00693)		282					Q6IFB7	Silent	SNP	ENST00000313472.3	37	c.846T>C	CCDS31519.1																																																																																				0.368	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		46	69	0	0	0	1	0	46	69					C	55890694	T	C	55890694	2	2	21	1	0	0	0	0	0	0	0	1	11248	1771	62	4		4	OR8H3	11	55890694	Silent	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	457878	55890694	79115822	491	1916										
DTX4	23220	broad.mit.edu	37	chr11	58958609	58958609	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aaaaccccagaggaagtgctAaaaaaatatctacagaaagt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:58958609delA	ENST00000227451.3	+	5	1286	c.1182delA	c.(1180-1182)ctafs	p.L394fs	DTX4_ENST00000532982.1_Frame_Shift_Del_p.L288fs|DTX4_ENST00000531902.1_3'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	394					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K290fs*34(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				AGGAAGTGCTAAAAAAATATC	0.502																																						ENST00000227451.3																			1	Deletion - Frameshift(1)	p.K290fs*34(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1180-1182)ctfs		deltex homolog 4 (Drosophila)							38	37	37					11																	58958609		1886	4085	5971	SO:0001589	frameshift_variant	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58958609delA	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"RING-type (C3HC4) zinc fingers"	29151	protein-coding gene	gene with protein product			"deltex 4 homolog (Drosophila)", "deltex homolog 4 (Drosophila)"			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1182delA	11.37:g.58958609delA	ENSP00000227451:p.Leu394fs		Somatic				DTX4_ENST00000532982.1_Frame_Shift_Del_p.L288fs|DTX4_ENST00000531902.1_3'UTR	p.L394fs	NM_015177.1	NP_055992.1	WXS	Illumina GAIIx	Phase_I	Q9Y2E6	DTX4_HUMAN			5	1286	+		all_epithelial(135;0.125)	394					Q0VF38	Frame_Shift_Del	DEL	ENST00000227451.3	37	c.1182delA	CCDS44612.1																																																																																				0.502	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		5	5						5	5	---	---	---	---	-	58958609	A	-	58958609	7	5	21	1	0	1	0	1	0	0	0	0	4799	349	13	0	1200	0	DTX4	11	58958609	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	3067915	58958609	76047907	492	1917										
SLC15A3	51296	broad.mit.edu	37	chr11	60718781	60718781	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggcgccagcaggtaggaggcGcccaggaataccagcgcggc	17	13	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:60718781G>A	ENST00000227880.3	-	1	476	c.243C>T	c.(241-243)ggC>ggT	p.G81G		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	81					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GGTAGGAGGCGCCCAGGAATA	0.701																																						ENST00000227880.3																			0				central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						c.(241-243)ggC>ggT		solute carrier family 15 (oligopeptide transporter), member 3							6	4	5					11																	60718781		1829	3713	5542	SO:0001819	synonymous_variant	51296				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr11:60718781G>A	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"Solute carriers"	18068	protein-coding gene	gene with protein product		610408	"solute carrier family 15, member 3"			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.243C>T	11.37:g.60718781G>A			Somatic					p.G81G	NM_016582.2	NP_057666.1	WXS	Illumina GAIIx	Phase_I	Q8IY34	S15A3_HUMAN			1	476	-			81					Q9P2X9	Silent	SNP	ENST00000227880.3	37	c.243C>T	CCDS7998.1																																																																																				0.701	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		4	3	0	0	0	1	0	4	3					A	60718781	G	A	60718781	2	1	21	1	0	0	0	0	0	0	0	1	14415	1074	38	1		1	SLC15A3	11	60718781	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1760172	60718781	74287735	493	1918										
C11orf9	745	broad.mit.edu	37	chr11	61537778	61537778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccacgtgggagtgccctcccGcctggagcatccgcccccac	11	20	0	0	rs200370195		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:61537778G>A	ENST00000278836.5	+	5	617	c.521G>A	c.(520-522)cGc>cAc	p.R174H	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.R165H	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	174	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTGCCCTCCCGCCTGGAGCAT	0.677																																						ENST00000278836.5																			0											c.(520-522)cGc>cAc		myelin regulatory factor		G	HIS/ARG,HIS/ARG	0,4390		0,0,2195	18	16	17		521,494	3.9	1	11		17	5,8589		0,5,4292	yes	missense,missense	C11orf9	NM_001127392.1,NM_013279.2	29,29	0,5,6487	AA,AG,GG		0.0582,0.0,0.0385	probably-damaging,probably-damaging	174/1152,165/1112	61537778	5,12979	2195	4297	6492	SO:0001583	missense	745							g.chr11:61537778G>A		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.521G>A	11.37:g.61537778G>A	ENSP00000278836:p.Arg174His		Somatic				TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.R165H	p.R174H	NM_001127392.1	NP_001120864.1	WXS	Illumina GAIIx	Phase_I					5	617	+								O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.521G>A	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482094	0.84747	0.0	5.82E-4	ENSG00000124920	ENST00000278836;ENST00000265460	T;T	0.38560	1.13;1.15	3.89	3.89	0.44902	.	0.000000	0.64402	D	0.000002	T	0.50274	0.1606	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.959	T	0.53063	-0.8491	10	0.44086	T	0.13	-35.5312	17.1911	0.86879	0.0:0.0:1.0:0.0	.	165;174	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	H	174;165	ENSP00000278836:R174H;ENSP00000265460:R165H	ENSP00000265460:R165H	R	+	2	0	C11orf9	61294354	.	.	1.000000	0.80357	0.998000	0.95712	.	.	2.469000	0.83416	0.549000	0.68633	CGC		0.677	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		9	10	0	0	0	1	0	9	10					A	61537778	G	A	61537778	3	1	21	1	0	0	0	0	1	0	0	0	1673	1087	38	1	562	1	C11orf9	11	61537778	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	818997	61537778	73468738	494	1919										
AHNAK	79026	broad.mit.edu	37	chr11	62297595	62297595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tttgggaccttttagttttgCgtctggaccttcaatattca	8	8	3	0	rs139799392		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:62297595C>T	ENST00000378024.4	-	5	4568	c.4294G>A	c.(4294-4296)Gca>Aca	p.A1432T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1432					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)				TTTAGTTTTGCGTCTGGACCT	0.433																																						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.(4294-4296)Gca>Aca		AHNAK nucleoprotein		C	THR/ALA,	0,4404		0,0,2202	194	206	202		4294,	3.3	0	11	dbSNP_134	202	2,8596		0,2,4297	no	missense,intron	AHNAK	NM_001620.1,NM_024060.2	58,	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,	1432/5891,	62297595	2,13000	2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297595C>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.4294G>A	11.37:g.62297595C>T	ENSP00000367263:p.Ala1432Thr		Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.A1432T	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	4568	-		Melanoma(852;0.155)	1432					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.4294G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	N	6.010	0.370337	0.11352	0.0	2.33E-4	ENSG00000124942	ENST00000378024	T	0.00912	5.55	4.25	3.31	0.37934	.	.	.	.	.	T	0.00936	0.0031	L	0.35487	1.065	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.44832	-0.9302	9	0.08599	T	0.76	.	10.7716	0.46325	0.0:0.9065:0.0:0.0935	.	1432	Q09666	AHNK_HUMAN	T	1432	ENSP00000367263:A1432T	ENSP00000367263:A1432T	A	-	1	0	AHNAK	62054171	0.003000	0.15002	0.042000	0.18584	0.011000	0.07611	0.255000	0.18333	0.879000	0.35944	0.500000	0.49745	GCA		0.433	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		111	186	0	0	0	1	0	111	186					T	62297595	C	T	62297595	3	4	21	1	0	0	0	0	1	0	0	0	414	768	27	1	13498	1	AHNAK	11	62297595	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	759817	62297595	72708921	495	1920										
FLRT1	28992	broad.mit.edu	37	chr11	63884829	63884829	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gccagggccctgagaaggtcCggggcatggccatcaaggac	16	12	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:63884829C>T	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Missense_Mutation_p.R364W|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						TGAGAAGGTCCGGGGCATGGC	0.657																																						ENST00000246841.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(1090-1092)Cgg>Tgg		fibronectin leucine rich transmembrane protein 1							53	52	52					11																	63884829		2200	4296	6496	SO:0001627	intron_variant	23769				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr11:63884829C>T	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33881G>A	11.37:g.63884829C>T			Somatic				MACROD1_ENST00000255681.6_Intron	p.R364W	NM_013280.4	NP_037412.2	WXS	Illumina GAIIx	Phase_I	Q9NZU1	FLRT1_HUMAN			2	2133	+			336					Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.1090C>T	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866842	0.51588	.	.	ENSG00000126500	ENST00000246841	T	0.02656	4.21	5.4	4.48	0.54585	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.15998	0.0385	M	0.88704	2.975	0.51482	D	0.999925	D	0.89917	1.0	D	0.87578	0.998	T	0.00036	-1.2253	10	0.87932	D	0	-29.1867	9.0411	0.36319	0.1459:0.7742:0.0:0.0798	.	336	Q9NZU1	FLRT1_HUMAN	W	364	ENSP00000246841:R364W	ENSP00000246841:R364W	R	+	1	2	FLRT1	63641405	0.438000	0.25602	1.000000	0.80357	0.829000	0.46940	0.975000	0.29449	2.512000	0.84698	0.650000	0.86243	CGG		0.657	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		43	53	0	0	0	1	0	43	53					T	63884829	C	T	63884829	1	4	21	0	1	0	0	0	0	0	0	0	5946	643	23	1		1	FLRT1	11	63884829	Intron	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1587234	63884829	71121687	496	1921										
EHBP1L1	254102	broad.mit.edu	37	chr11	65351790	65351790	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccactggctaccgtggcgtcCgcatcaccaacttcaccaca	7	18	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:65351790C>T	ENST00000309295.4	+	10	3437	c.3172C>T	c.(3172-3174)Cgc>Tgc	p.R1058C		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1058	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					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						CCGTGGCGTCCGCATCACCAA	0.627																																						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.(3172-3174)Cgc>Tgc		EH domain binding protein 1-like 1							75	86	82					11																	65351790		2168	4264	6432	SO:0001583	missense	254102							g.chr11:65351790C>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.3172C>T	11.37:g.65351790C>T	ENSP00000312671:p.Arg1058Cys		Somatic					p.R1058C	NM_001099409.1	NP_001092879.1	WXS	Illumina GAIIx	Phase_I	Q8N3D4	EH1L1_HUMAN			10	3437	+			1058			CH.		Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.3172C>T	CCDS44649.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.04|14.04	2.418131|2.418131	0.42918|0.42918	.|.	.|.	ENSG00000173442|ENSG00000173442	ENST00000533465|ENST00000309295;ENST00000533237	.|D;D	.|0.95342	.|-3.68;-3.68	5.41|5.41	4.26|4.26	0.50523|0.50523	.|Calponin homology domain (5);	.|0.169844	.|0.38272	.|N	.|0.001754	D|D	0.90755|0.90755	0.7098|0.7098	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	.|P;B	.|0.35050	.|0.482;0.26	.|B;B	.|0.29267	.|0.1;0.057	D|D	0.86445|0.86445	0.1769|0.1769	5|10	.|0.22706	.|T	.|0.39	.|.	9.5246|9.5246	0.39156|0.39156	0.0:0.8634:0.0:0.1366|0.0:0.8634:0.0:0.1366	.|.	.|475;1058	.|E9PIH6;Q8N3D4	.|.;EH1L1_HUMAN	L|C	107|1058;475	.|ENSP00000312671:R1058C;ENSP00000431996:R475C	.|ENSP00000312671:R1058C	P|R	+|+	2|1	0|0	EHBP1L1|EHBP1L1	65108366|65108366	0.697000|0.697000	0.27767|0.27767	0.559000|0.559000	0.28332|0.28332	0.943000|0.943000	0.58893|0.58893	1.622000|1.622000	0.36997|0.36997	0.955000|0.955000	0.37878|0.37878	0.511000|0.511000	0.50034|0.50034	CCG|CGC		0.627	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		70	95	0	0	0	1	0	70	95					T	65351790	C	T	65351790	3	4	21	1	0	0	0	0	1	0	0	0	4978	652	23	1	3210	1	EHBP1L1	11	65351790	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1466961	65351790	69654726	497	1922										
PCNXL3	399909	broad.mit.edu	37	chr11	65402797	65402797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atgagggtgacccagcatggCgcagcgccatcctcagcaac	12	14	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:65402797C>T	ENST00000355703.3	+	31	5601	c.5062C>T	c.(5062-5064)Cgc>Tgc	p.R1688C	MIR4690_ENST00000578459.1_RNA|SIPA1_ENST00000534313.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1688						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCCAGCATGGCGCAGCGCCAT	0.612																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(5062-5064)Cgc>Tgc		pecanex-like 3 (Drosophila)							23	24	23					11																	65402797		2044	4175	6219	SO:0001583	missense	399909					integral to membrane		g.chr11:65402797C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5062C>T	11.37:g.65402797C>T	ENSP00000347931:p.Arg1688Cys		Somatic					p.R1688C	NM_032223.2	NP_115599.2	WXS	Illumina GAIIx	Phase_I	Q9H6A9	PCX3_HUMAN			31	5601	+			1688					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.5062C>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950631	0.73787	.	.	ENSG00000197136	ENST00000355703	T	0.52754	0.65	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	M	0.91406	3.205	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.76366	-0.2985	10	0.87932	D	0	.	9.0232	0.36213	0.2201:0.7799:0.0:0.0	.	575;1688	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	C	1688	ENSP00000347931:R1688C	ENSP00000347931:R1688C	R	+	1	0	PCNXL3	65159373	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.256000	0.51492	2.097000	0.63578	0.462000	0.41574	CGC		0.612	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		12	7	0	0	0	1	0	12	7					T	65402797	C	T	65402797	3	4	21	1	0	0	0	0	1	0	0	0	11602	768	27	1	5184	1	PCNXL3	11	65402797	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	51007	65402797	69603719	498	1923										
B3GNT1	11041	broad.mit.edu	37	chr11	66114163	66114163	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acaacccataatagaagggcCgcacctcgccaacctggtag	9	14	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:66114163C>A	ENST00000311181.4	-	1	1000	c.854G>T	c.(853-855)cGg>cTg	p.R285L	BRMS1_ENST00000425825.2_5'Flank|BRMS1_ENST00000359957.3_5'Flank|RP11-867G23.8_ENST00000531602.1_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	285					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						ATAGAAGGGCCGCACCTCGCC	0.632																																						ENST00000311181.4																			0				breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						c.(853-855)cGg>cTg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1							48	53	51					11																	66114163		2200	4295	6495	SO:0001583	missense	11041				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	g.chr11:66114163C>A	AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"Beta 3-glycosyltransferases"	15685	protein-coding gene	gene with protein product	"N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"	605517	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.854G>T	11.37:g.66114163C>A	ENSP00000309096:p.Arg285Leu		Somatic					p.R285L	NM_006876.2	NP_006867.1	WXS	Illumina GAIIx	Phase_I	O43505	B3GN1_HUMAN			1	1000	-			285					Q4TTN0	Missense_Mutation	SNP	ENST00000311181.4	37	c.854G>T	CCDS8136.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132771	0.56828	.	.	ENSG00000174684	ENST00000311181;ENST00000538757	T	0.21932	1.98	5.59	3.72	0.42706	.	0.128866	0.53938	D	0.000060	T	0.19805	0.0476	L	0.50333	1.59	0.80722	D	1	P	0.38597	0.639	B	0.41510	0.359	T	0.03025	-1.1081	10	0.11485	T	0.65	-25.4424	10.0177	0.42024	0.0:0.8352:0.0:0.1648	.	285	O43505	B3GN1_HUMAN	L	285;56	ENSP00000309096:R285L	ENSP00000309096:R285L	R	-	2	0	B3GNT1	65870739	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.540000	0.60664	0.729000	0.32403	0.563000	0.77884	CGG		0.632	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1	NM_006876		52	58	1	0	3.76525e-18	1	4.10201e-18	52	58					A	66114163	C	A	66114163	3	1	21	1	0	0	0	0	1	0	0	0	1256	652	23	5	401	5	B3GNT1	11	66114163	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	711366	66114163	68892353	499	1924										
PELI3	246330	broad.mit.edu	37	chr11	66241352	66241352	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tctcggtctgtgggaatgtgTacacattgcgggacagccgc	14	10	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:66241352T>C	ENST00000320740.7	+	7	956	c.796T>C	c.(796-798)Tac>Cac	p.Y266H	PELI3_ENST00000349459.6_Missense_Mutation_p.Y242H|PELI3_ENST00000531856.1_Intron|CTD-3074O7.5_ENST00000602951.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000524466.1_Missense_Mutation_p.Y266H|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	266					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						TGGGAATGTGTACACATTGCG	0.652																																						ENST00000349459.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						c.(724-726)Tac>Cac		pellino E3 ubiquitin protein ligase family member 3							51	55	54					11																	66241352		2200	4295	6495	SO:0001583	missense	246330					cytosol	protein binding	g.chr11:66241352T>C	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"Pellino homologs"	30010	protein-coding gene	gene with protein product		609827	"pellino homolog 3 (Drosophila)"			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.796T>C	11.37:g.66241352T>C	ENSP00000322532:p.Tyr266His		Somatic				PELI3_ENST00000524466.1_Missense_Mutation_p.Y266H|PELI3_ENST00000531856.1_Intron|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000320740.7_Missense_Mutation_p.Y266H	p.Y242H	NM_001098510.1	NP_001091980.1	WXS	Illumina GAIIx	Phase_I	Q8N2H9	PELI3_HUMAN			6	1008	+			266					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	ENST00000320740.7	37	c.724T>C	CCDS31615.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.534514	0.85812	.	.	ENSG00000174516	ENST00000349459;ENST00000320740;ENST00000524466;ENST00000526296;ENST00000528752	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	4.98	4.98	0.66077	.	0.071667	0.64402	D	0.000019	T	0.69717	0.3142	M	0.71581	2.175	0.43003	D	0.994524	D;D;D	0.76494	0.996;0.998;0.999	D;D;D	0.74348	0.956;0.982;0.983	T	0.74016	-0.3800	10	0.87932	D	0	-27.7046	12.9503	0.58397	0.0:0.0:0.0:1.0	.	242;266;266	Q8N2H9-2;Q8N2H9;Q8N2H9-4	.;PELI3_HUMAN;.	H	242;266;266;159;53	ENSP00000309848:Y242H;ENSP00000322532:Y266H;ENSP00000434677:Y266H;ENSP00000436722:Y159H;ENSP00000436161:Y53H	ENSP00000322532:Y266H	Y	+	1	0	PELI3	65997928	1.000000	0.71417	0.997000	0.53966	0.840000	0.47671	7.825000	0.86693	2.217000	0.71921	0.533000	0.62120	TAC		0.652	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		9	110	0	0	0	1	0	9	110					C	66241352	T	C	66241352	3	2	21	1	0	0	0	0	1	0	0	0	11732	1638	57	4	818	4	PELI3	11	66241352	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	127189	66241352	68765164	500	1925										
BBS1	582	broad.mit.edu	37	chr11	66298469	66298469	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgcttcctgtacaacgaggcGctctattccctgccccgggc	10	16	1	0	rs373397428		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:66298469G>A	ENST00000318312.7	+	15	1629	c.1578G>A	c.(1576-1578)gcG>gcA	p.A526A	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Silent_p.A429A|BBS1_ENST00000393994.2_Silent_p.A397A|CTD-3074O7.11_ENST00000419755.3_Silent_p.A563A	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	526					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						ACAACGAGGCGCTCTATTCCC	0.587									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	ENST00000419755.3																			0											c.(1687-1689)gcG>gcA				G		1,4399	2.1+/-5.4	0,1,2199	170	140	150		1578	-3.8	0.5	11		150	0,8590		0,0,4295	no	coding-synonymous	BBS1	NM_024649.4		0,1,6494	AA,AG,GG		0.0,0.0227,0.0077		526/594	66298469	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	0		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr11:66298469G>A	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1578G>A	11.37:g.66298469G>A			Somatic				BBS1_ENST00000455748.2_Silent_p.A429A|BBS1_ENST00000393994.2_Silent_p.A397A|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000318312.7_Silent_p.A526A	p.A563A			WXS	Illumina GAIIx	Phase_I					15	1767	+								Q32MM9|Q32MN0|Q96SN4	Silent	SNP	ENST00000318312.7	37	c.1689G>A	CCDS8142.1																																																																																				0.587	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			29	43	0	0	0	1	0	29	43					A	66298469	G	A	66298469	2	1	21	1	0	0	0	0	0	0	0	1	1335	1074	38	1		1	BBS1	11	66298469	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	57117	66298469	68708047	501	1926										
PITPNM1	9600	broad.mit.edu	37	chr11	67261432	67261432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggtagacaccaatgcccagcGcgcgttctgggggaactggg	16	11	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:67261432G>A	ENST00000534749.1	-	19	3157	c.2969C>T	c.(2968-2970)gCg>gTg	p.A990V	PITPNM1_ENST00000356404.3_Missense_Mutation_p.A990V|PITPNM1_ENST00000436757.2_Missense_Mutation_p.A989V|PITPNM1_ENST00000526450.1_5'UTR			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	990					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AATGCCCAGCGCGCGTTCTGG	0.682																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(2968-2970)gCg>gTg		phosphatidylinositol transfer protein, membrane-associated 1							37	34	35					11																	67261432		2196	4293	6489	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67261432G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"PYK2 N-terminal domain-interacting receptor 2", "retinal degeneration B alpha 1"	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2969C>T	11.37:g.67261432G>A	ENSP00000437286:p.Ala990Val		Somatic				PITPNM1_ENST00000534749.1_Missense_Mutation_p.A990V|PITPNM1_ENST00000436757.2_Missense_Mutation_p.A989V|PITPNM1_ENST00000526450.1_5'UTR	p.A990V	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	WXS	Illumina GAIIx	Phase_I	O00562	PITM1_HUMAN			20	3194	-			990					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.2969C>T	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	G	8.513	0.867060	0.17250	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.44083	0.93;0.93;0.93	4.02	4.02	0.46733	.	0.319862	0.21593	N	0.072078	T	0.27697	0.0681	L	0.38175	1.15	0.09310	N	1	P;P	0.44139	0.827;0.685	B;B	0.33750	0.169;0.06	T	0.15694	-1.0428	10	0.32370	T	0.25	-23.5603	11.2281	0.48897	0.0:0.1865:0.8135:0.0	.	989;990	O00562-2;O00562	.;PITM1_HUMAN	V	990;989;990	ENSP00000437286:A990V;ENSP00000398787:A989V;ENSP00000348772:A990V	ENSP00000348772:A990V	A	-	2	0	PITPNM1	67018008	0.000000	0.05858	0.365000	0.25901	0.037000	0.13140	1.094000	0.30951	1.966000	0.57179	0.305000	0.20034	GCG		0.682	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		28	21	0	0	0	1	0	28	21					A	67261432	G	A	67261432	3	1	21	1	0	0	0	0	1	0	0	0	11959	1087	38	1	785	1	PITPNM1	11	67261432	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	962963	67261432	67745084	502	1927										
ALDH3B1	221	broad.mit.edu	37	chr11	67790205	67790205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgggagaagcccctggccctGtacgccttctccaacagcag	11	16	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:67790205G>A	ENST00000539229.1	+	10	1202	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	RP5-901A4.1_ENST00000532296.1_RNA|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Silent_p.L362L|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000342456.6_Silent_p.L326L	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	364					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										CCCTGGCCCTGTACGCCTTCT	0.677																																						ENST00000539229.1																			0											c.(1084-1086)ctG>ctA		aldehyde dehydrogenase 3 family, member B1	NADH(DB00157)						81	81	81					11																	67790205		2200	4294	6494	SO:0001819	synonymous_variant	221				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67790205G>A	U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"Aldehyde dehydrogenases"	410	protein-coding gene	gene with protein product	"aldehyde dehydrogenase 7", "aldehyde dehydrogenase 3B1"	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.1086G>A	11.37:g.67790205G>A			Somatic				ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000342456.6_Silent_p.L326L|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Silent_p.L362L	p.L362L	NM_001161473.1	NP_001154945.1	WXS	Illumina GAIIx	Phase_I	P43353	AL3B1_HUMAN			10	1202	+			364					A3FMP9|Q53XL5|Q8N515|Q96CK8	Silent	SNP	ENST00000539229.1	37	c.1086G>A																																																																																					0.677	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000694		57	56	0	0	0	1	0	57	56					A	67790205	G	A	67790205	2	1	21	1	0	0	0	0	0	0	0	1	499	1364	48	3		3	ALDH3B1	11	67790205	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	528773	67790205	67216311	503	1928										
CCND1	595	broad.mit.edu	37	chr11	69466022	69466022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggtggacctggcttgcacacCcaccgacgtgcgggacgtgg	16	13	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:69466022C>T	ENST00000227507.2	+	5	1087	c.860C>T	c.(859-861)cCc>cTc	p.P287L	ORAOV1_ENST00000542515.1_5'Flank	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	287					canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.P287L(1)|p.P287H(1)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GCTTGCACACCCACCGACGTG	0.716			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	ENST00000227507.2				Dom	yes		11	11q13	595	T	cyclin D1			"L, E"	"IGH@, FSTL3"		"CLL, B-ALL, breast"		2	Substitution - Missense(2)	p.P287L(1)|p.P287H(1)	NS(1)|endometrium(1)	NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23						c.(859-861)cCc>cTc		cyclin D1	Arsenic trioxide(DB01169)						23	19	20					11																	69466022		2200	4292	6492	SO:0001583	missense	595				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	g.chr11:69466022C>T	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"parathyroid adenomatosis 1", "B-cell CLL/lymphoma 1", "G1/S-specific cyclin D1"	168461	"cyclin D1 (PRAD1: parathyroid adenomatosis 1)"	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.860C>T	11.37:g.69466022C>T	ENSP00000227507:p.Pro287Leu	Multiple Myeloma(6;0.086)	Somatic					p.P287L	NM_053056.2	NP_444284.1	WXS	Illumina GAIIx	Phase_I	P24385	CCND1_HUMAN	Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		5	1087	+	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		287					Q6LEF0	Missense_Mutation	SNP	ENST00000227507.2	37	c.860C>T	CCDS8191.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189827	0.94923	.	.	ENSG00000110092	ENST00000227507;ENST00000542897	T	0.17854	2.25	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57556	-0.7791	10	0.87932	D	0	.	19.5807	0.95467	0.0:1.0:0.0:0.0	.	287	P24385	CCND1_HUMAN	L	287;153	ENSP00000227507:P287L	ENSP00000227507:P287L	P	+	2	0	CCND1	69175203	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.406000	0.66357	2.623000	0.88846	0.655000	0.94253	CCC		0.716	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2	NM_053056		10	13	0	0	0	1	0	10	13					T	69466022	C	T	69466022	3	4	21	1	0	0	0	0	1	0	0	0	2918	623	22	3	878	3	CCND1	11	69466022	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1675817	69466022	65540494	504	1929										
INPPL1	3636	broad.mit.edu	37	chr11	71948748	71948748	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caggccccctggagctgcagCccccccggggactgccctcg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:71948748delC	ENST00000298229.2	+	26	3664	c.3460delC	c.(3460-3462)cccfs	p.P1155fs	INPPL1_ENST00000541756.1_Frame_Shift_Del_p.P913fs|PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000538751.1_Frame_Shift_Del_p.P913fs	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1155					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						GGAGCTGCAGCCCCCCCGGGG	0.697																																						ENST00000541756.1																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2734-2736)ccfs		inositol polyphosphate phosphatase-like 1							10	12	12					11																	71948748		2120	4190	6310	SO:0001589	frameshift_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71948748delC	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.3460delC	11.37:g.71948748delC	ENSP00000298229:p.Pro1155fs		Somatic				INPPL1_ENST00000298229.2_Frame_Shift_Del_p.P1155fs|INPPL1_ENST00000538751.1_Frame_Shift_Del_p.P913fs	p.P913fs			WXS	Illumina GAIIx	Phase_I	O15357	SHIP2_HUMAN			26	3664	+			1155					B2RTX5|Q13577|Q13578	Frame_Shift_Del	DEL	ENST00000298229.2	37	c.2734delC	CCDS8213.1																																																																																				0.697	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		12	35						12	35	---	---	---	---	-	71948748	C	-	71948748	7	5	21	1	0	1	0	1	0	0	0	0	7770	739	26	0	3562	0	INPPL1	11	71948748	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2482726	71948748	63057768	505	1930	8	2								
INPPL1	3636	broad.mit.edu	37	chr11	71948755	71948755	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cctggagctgcagcccccccGgggactgccctcggactatg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:71948755delG	ENST00000298229.2	+	26	3671	c.3467delG	c.(3466-3468)cggfs	p.R1156fs	INPPL1_ENST00000541756.1_Frame_Shift_Del_p.R914fs|PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000538751.1_Frame_Shift_Del_p.R914fs	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1156					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						CAGCCCCCCCGGGGACTGCCC	0.697																																						ENST00000541756.1																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2740-2742)cgfs		inositol polyphosphate phosphatase-like 1							10	12	11					11																	71948755		2129	4210	6339	SO:0001589	frameshift_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71948755delG	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.3467delG	11.37:g.71948755delG	ENSP00000298229:p.Arg1156fs		Somatic				INPPL1_ENST00000298229.2_Frame_Shift_Del_p.R1156fs|INPPL1_ENST00000538751.1_Frame_Shift_Del_p.R914fs	p.R914fs			WXS	Illumina GAIIx	Phase_I	O15357	SHIP2_HUMAN			26	3671	+			1156					B2RTX5|Q13577|Q13578	Frame_Shift_Del	DEL	ENST00000298229.2	37	c.2741delG	CCDS8213.1																																																																																				0.697	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		16	29						16	29	---	---	---	---	-	71948755	G	-	71948755	7	5	21	1	0	1	0	1	0	0	0	0	7770	1116	39	0	3569	0	INPPL1	11	71948755	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	7	71948755	63057761	506	1931	8	2								
RNF169	254225	broad.mit.edu	37	chr11	74547475	74547475	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aatggtgttctagttgagagCctaagtgaagagccacttcc	11	8	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:74547475C>G	ENST00000299563.4	+	6	1840	c.1827C>G	c.(1825-1827)agC>agG	p.S609R		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	609					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						TAGTTGAGAGCCTAAGTGAAG	0.423																																						ENST00000299563.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						c.(1825-1827)agC>agG		ring finger protein 169							80	75	76					11																	74547475		1905	4110	6015	SO:0001583	missense	254225						zinc ion binding	g.chr11:74547475C>G	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.1827C>G	11.37:g.74547475C>G	ENSP00000299563:p.Ser609Arg		Somatic					p.S609R	NM_001098638.1	NP_001092108.1	WXS	Illumina GAIIx	Phase_I	Q8NCN4	RN169_HUMAN			6	1840	+			609					Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	c.1827C>G	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	C	5.719	0.317169	0.10845	.	.	ENSG00000166439	ENST00000299563	T	0.44482	0.92	5.53	1.44	0.22558	.	0.806631	0.11772	N	0.531019	T	0.27098	0.0664	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.20672	-1.0268	10	0.25106	T	0.35	-3.7732	6.8254	0.23880	0.0:0.6356:0.1327:0.2317	.	609	Q8NCN4	RN169_HUMAN	R	609	ENSP00000299563:S609R	ENSP00000299563:S609R	S	+	3	2	RNF169	74225123	0.000000	0.05858	0.004000	0.12327	0.813000	0.45954	-0.018000	0.12568	0.370000	0.24538	0.655000	0.94253	AGC		0.423	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		35	65	0	0	0	1	0	35	65					G	74547475	C	G	74547475	3	3	21	1	0	0	0	0	1	0	0	0	13475	738	26	5	1849	5	RNF169	11	74547475	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2598720	74547475	60459041	507	1932										
XRRA1	254225	broad.mit.edu	37	chr11	74554923	74554923	+	IGR	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggagcctctgtaatgttccGgggatcccgcaagcgaatga							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:74554923delG	ENST00000299563.4	+	0	7823				XRRA1_ENST00000321448.8_Frame_Shift_Del_p.R426fs|XRRA1_ENST00000527087.1_Intron|RN7SL239P_ENST00000490061.2_RNA|XRRA1_ENST00000340360.6_Frame_Shift_Del_p.R701fs	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169						cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						GTAATGTTCCGGGGATCCCGC	0.557																																						ENST00000340360.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(2101-2103)ggfs		X-ray radiation resistance associated 1							85	92	90					11																	74554923		1931	4124	6055	SO:0001628	intergenic_variant	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74554923delG	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516		11.37:g.74554923delG			Somatic				XRRA1_ENST00000321448.8_Frame_Shift_Del_p.R426fs|XRRA1_ENST00000527087.1_Intron	p.R701fs	NM_182969.2	NP_892014.1	WXS	Illumina GAIIx	Phase_I	Q6P2D8	XRRA1_HUMAN			18	2432	-			701					Q6N015	Frame_Shift_Del	DEL	ENST00000299563.4	37	c.2101delC	CCDS41691.1																																																																																				0.557	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		11	14						11	14	---	---	---	---	-	74554923	G	-	74554923	6	5	21	0	1	1	0	1	0	0	0	0	17476	1115	39	0		0	XRRA1	11	74554923	IGR	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	7448	74554923	60451593	508	1933										
GRM5	2915	broad.mit.edu	37	chr11	88386450	88386450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcggtggtttgtttctggccGgagcttcagataataatcat	11	7	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:88386450G>A	ENST00000305447.4	-	3	1182	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	GRM5_ENST00000305432.5_Missense_Mutation_p.R345W|GRM5_ENST00000455756.2_Missense_Mutation_p.R345W|GRM5_ENST00000418177.2_Missense_Mutation_p.R345W|GRM5_ENST00000393297.1_Missense_Mutation_p.R345W	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	345					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)	GTTTCTGGCCGGAGCTTCAGA	0.458																																						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.(1033-1035)Cgg>Tgg		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						92	93	92					11																	88386450		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.chr11:88386450G>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.1033C>T	11.37:g.88386450G>A	ENSP00000306138:p.Arg345Trp		Somatic				GRM5_ENST00000455756.2_Missense_Mutation_p.R345W|GRM5_ENST00000305432.5_Missense_Mutation_p.R345W|GRM5_ENST00000393297.1_Missense_Mutation_p.R345W|GRM5_ENST00000305447.4_Missense_Mutation_p.R345W	p.R345W			WXS	Illumina GAIIx	Phase_I	P41594	GRM5_HUMAN			4	1400	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	345					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.1033C>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927964	0.92389	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.168413	0.53938	D	0.000049	D	0.86045	0.5839	L	0.39147	1.195	0.47441	D	0.999426	D;D	0.76494	0.998;0.999	P;P	0.57679	0.543;0.825	D	0.83734	0.0200	9	.	.	.	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	345;345	P41594-2;P41594	.;GRM5_HUMAN	W	345	ENSP00000402912:R345W;ENSP00000405690:R345W;ENSP00000305905:R345W;ENSP00000306138:R345W;ENSP00000376975:R345W	.	R	-	1	2	GRM5	88026098	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.596000	0.54024	2.789000	0.95967	0.591000	0.81541	CGG		0.458	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		46	47	0	0	0	1	0	46	47					A	88386450	G	A	88386450	3	1	21	1	0	0	0	0	1	0	0	0	6809	1115	39	1	2633	1	GRM5	11	88386450	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	13831527	88386450	46620066	509	1934										
FAT3	120114	broad.mit.edu	37	chr11	92624210	92624210	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gccatgagtgactacgagagCgtgggagagctcagcctcgc	15	11	1	4			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:92624210C>T	ENST00000298047.6	+	27	13718	c.13701C>T	c.(13699-13701)agC>agT	p.S4567S	FAT3_ENST00000525166.1_Silent_p.S4417S|FAT3_ENST00000533797.1_Silent_p.S870S|FAT3_ENST00000409404.2_Silent_p.S4535S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4567					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)				ACTACGAGAGCGTGGGAGAGC	0.527										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.(13699-13701)agC>agT		FAT atypical cadherin 3							41	44	43					11																	92624210		2088	4219	6307	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92624210C>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.13701C>T	11.37:g.92624210C>T		TCGA Ovarian(4;0.039)	Somatic				FAT3_ENST00000409404.2_Silent_p.S4535S|FAT3_ENST00000525166.1_Silent_p.S4417S|FAT3_ENST00000533797.1_Silent_p.S870S	p.S4567S			WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			27	13718	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4567					B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.13701C>T																																																																																					0.527	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		8	14	0	0	0	1	0	8	14					T	92624210	C	T	92624210	2	4	21	1	0	0	0	0	0	0	0	1	5699	767	27	1		1	FAT3	11	92624210	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	4237760	92624210	42382306	510	1935										
CEP57	9702	broad.mit.edu	37	chr11	95552024	95552026	+	In_Frame_Del	DEL	GAA	GAA	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agttggaagcaaaactccatGaagaagaacaggaaaggaaa					rs142615007		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:95552024_95552026delGAA	ENST00000325542.5	+	6	893_895	c.655_657delGAA	c.(655-657)gaadel	p.E221del	CEP57_ENST00000325486.5_In_Frame_Del_p.E221del|CEP57_ENST00000538658.1_In_Frame_Del_p.E221del|CEP57_ENST00000537677.1_In_Frame_Del_p.E194del|CEP57_ENST00000541150.1_In_Frame_Del_p.E212del	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	221	centrosome localization domain (CLD). {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)				AAAACTCCATGAAGAAGAACAGG	0.345									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.(655-657)del		centrosomal protein 57kDa																																				SO:0001651	inframe_deletion	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.chr11:95552024_95552026delGAA	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.655_657delGAA	11.37:g.95552030_95552032delGAA	ENSP00000317902:p.Glu221del		Somatic				CEP57_ENST00000537677.1_In_Frame_Del_p.E194del|CEP57_ENST00000325486.5_In_Frame_Del_p.E221del|CEP57_ENST00000541150.1_In_Frame_Del_p.E212del|CEP57_ENST00000538658.1_In_Frame_Del_p.E221del	p.E221del	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	WXS	Illumina GAIIx	Phase_I	Q86XR8	CEP57_HUMAN			6	893_895	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	221			centrosome localization domain (CLD) (By similarity).		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	In_Frame_Del	DEL	ENST00000325542.5	37	c.655_657delGAA	CCDS8304.1																																																																																				0.345	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		23	37						23	37	---	---	---	---	-	95552026	GAA	-	95552024	7	5	21	1	0	1	0	1	0	0	0	0	3258	1291	45	0	677	0	CEP57	11	95552024	In_Frame_Del	DEL	GAA	TCGA-N7-A4Y0-01A-12D-A28R-08	2927814	95552024	39454492	511	1936										
ATM	472	broad.mit.edu	37	chr11	108165727	108165727	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acttgaaggactaaaggatcTtcgaagacaactggaactac	9	8	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:108165727T>G	ENST00000452508.2	+	33	5039	c.4850T>G	c.(4849-4851)cTt>cGt	p.L1617R	ATM_ENST00000278616.4_Missense_Mutation_p.L1617R			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1617					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.E1612_Q1620>*(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)	CTAAAGGATCTTCGAAGACAA	0.358			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		1	Complex - deletion inframe(1)	p.E1612_Q1620>*(1)	haematopoietic_and_lymphoid_tissue(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(4849-4851)cTt>cGt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							157	157	157					11																	108165727		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.chr11:108165727T>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.4850T>G	11.37:g.108165727T>G	ENSP00000388058:p.Leu1617Arg	TSP Lung(14;0.12)	Somatic				ATM_ENST00000452508.2_Missense_Mutation_p.L1617R	p.L1617R	NM_000051.3	NP_000042.3	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)	32	5235	+		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)	1617					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.4850T>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.472672	0.84640	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.78816	-1.21;-1.21	5.55	5.55	0.83447	Armadillo-type fold (1);	0.063724	0.64402	D	0.000006	D	0.85111	0.5622	M	0.68952	2.095	0.52099	D	0.999941	D	0.60575	0.988	P	0.59703	0.862	D	0.86965	0.2094	10	0.87932	D	0	.	15.6825	0.77381	0.0:0.0:0.0:1.0	.	1617	Q13315	ATM_HUMAN	R	1617	ENSP00000278616:L1617R;ENSP00000388058:L1617R	ENSP00000278616:L1617R	L	+	2	0	ATM	107670937	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.079000	0.76829	2.097000	0.63578	0.528000	0.53228	CTT		0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		45	69	0	0	0	1	0	45	69					G	108165727	T	G	108165727	3	3	21	1	0	0	0	0	1	0	0	0	1109	1609	56	4	4972	4	ATM	11	108165727	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	12613703	108165727	26840789	512	1937										
C11orf65	160140	broad.mit.edu	37	chr11	108332220	108332220	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	actcacaaggaaacttttccAggcctgctgaatgactctgg	9	11	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:108332220A>G	ENST00000529391.1	-	1	76	c.67T>C	c.(67-69)Tgg>Cgg	p.W23R	C11orf65_ENST00000393084.1_Missense_Mutation_p.W23R|C11orf65_ENST00000525729.1_Missense_Mutation_p.W23R			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	23										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		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;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		AAACTTTTCCAGGCCTGCTGA	0.308																																						ENST00000525729.1																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10						c.(67-69)Tgg>Cgg		chromosome 11 open reading frame 65							74	83	80					11																	108332220		2201	4298	6499	SO:0001583	missense	160140							g.chr11:108332220A>G	BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.67T>C	11.37:g.108332220A>G	ENSP00000436400:p.Trp23Arg		Somatic				C11orf65_ENST00000393084.1_Missense_Mutation_p.W23R|C11orf65_ENST00000529391.1_Missense_Mutation_p.W23R	p.W23R			WXS	Illumina GAIIx	Phase_I	Q8NCR3	CK065_HUMAN		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	2	136	-		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)	23					B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	37	c.67T>C	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.458738	0.63401	.	.	ENSG00000166323	ENST00000525729;ENST00000529391;ENST00000393084;ENST00000533583	T;T;T	0.38560	1.13;1.13;1.13	4.36	4.36	0.52297	.	0.150689	0.47852	D	0.000202	T	0.59542	0.2201	M	0.65975	2.015	0.35032	D	0.75886	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71210	-0.4660	10	0.87932	D	0	-3.7866	10.2419	0.43316	1.0:0.0:0.0:0.0	.	23;23	B4DZU4;Q8NCR3	.;CK065_HUMAN	R	23	ENSP00000436400:W23R;ENSP00000376799:W23R;ENSP00000434500:W23R	ENSP00000376799:W23R	W	-	1	0	C11orf65	107837430	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.570000	0.53834	2.192000	0.70111	0.528000	0.53228	TGG		0.308	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3	NM_152587		63	83	0	0	0	1	0	63	83					G	108332220	A	G	108332220	3	3	21	1	0	0	0	0	1	0	0	0	1657	188	7	4	906	4	C11orf65	11	108332220	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	166493	108332220	26674296	513	1938										
APOA5	116519	broad.mit.edu	37	chr11	116661100	116661100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggaaagcctgaagtcgctggCgcacctcctcggagagcatc	13	13	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:116661100C>T	ENST00000227665.4	-	3	879	c.845G>A	c.(844-846)cGc>cAc	p.R282H	APOA5_ENST00000542499.1_Missense_Mutation_p.R282H|ZNF259_ENST00000227322.3_5'Flank			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	282					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		AAGTCGCTGGCGCACCTCCTC	0.652																																						ENST00000542499.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14						c.(844-846)cGc>cAc		apolipoprotein A-V							62	68	66					11																	116661100		2201	4296	6497	SO:0001583	missense	0				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661100C>T	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"Apolipoproteins"	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.845G>A	11.37:g.116661100C>T	ENSP00000227665:p.Arg282His		Somatic				APOA5_ENST00000227665.4_Missense_Mutation_p.R282H	p.R282H	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	WXS	Illumina GAIIx	Phase_I	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	4	917	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	282					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	c.845G>A	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	C	9.030	0.987065	0.18889	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	T;T	0.74526	-0.85;-0.85	4.75	1.64	0.23874	Apolipoprotein/apolipophorin (1);	0.174969	0.29028	N	0.013369	T	0.62036	0.2395	L	0.47716	1.5	0.21627	N	0.999611	B;B	0.18310	0.027;0.027	B;B	0.17722	0.019;0.008	T	0.54214	-0.8327	10	0.51188	T	0.08	-14.6449	5.1968	0.15243	0.0:0.5376:0.0:0.4624	.	279;282	B0YIW1;Q6Q788	.;APOA5_HUMAN	H	282	ENSP00000227665:R282H;ENSP00000445002:R282H	ENSP00000227665:R282H	R	-	2	0	APOA5	116166310	0.811000	0.29063	0.985000	0.45067	0.340000	0.28889	1.152000	0.31663	0.601000	0.29879	0.655000	0.94253	CGC		0.652	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			50	75	0	0	0	1	0	50	75					T	116661100	C	T	116661100	3	4	21	1	0	0	0	0	1	0	0	0	784	768	27	1	259	1	APOA5	11	116661100	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	8328880	116661100	18345416	514	1939										
TMPRSS13	84000	broad.mit.edu	37	chr11	117779388	117779388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcatagtcgtcctcctcatcGgtgtaattgctgttgatgat	9	9	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:117779388G>A	ENST00000430170.2	-	9	1308	c.1221C>T	c.(1219-1221)acC>acT	p.T407T	TMPRSS13_ENST00000445164.2_Silent_p.T407T|TMPRSS13_ENST00000526090.1_Silent_p.T407T|TMPRSS13_ENST00000528626.1_Silent_p.T372T|TMPRSS13_ENST00000524993.1_Silent_p.T407T	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	407	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CCTCCTCATCGGTGTAATTGC	0.617																																						ENST00000528626.1																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20						c.(1114-1116)acC>acT		transmembrane protease, serine 13							42	47	45					11																	117779388		2155	4255	6410	SO:0001819	synonymous_variant	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117779388G>A	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.1221C>T	11.37:g.117779388G>A			Somatic				TMPRSS13_ENST00000526090.1_Silent_p.T407T|TMPRSS13_ENST00000524993.1_Silent_p.T407T|TMPRSS13_ENST00000445164.2_Silent_p.T407T|TMPRSS13_ENST00000430170.2_Silent_p.T407T	p.T372T	NM_001206789.1	NP_001193718.1	WXS	Illumina GAIIx	Phase_I	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	8	1189	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	402			Peptidase S1.		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000430170.2	37	c.1116C>T	CCDS58185.1																																																																																				0.617	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		11	5	0	0	0	1	0	11	5					A	117779388	G	A	117779388	2	1	21	1	0	0	0	0	0	0	0	1	16260	1103	39	1		1	TMPRSS13	11	117779388	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1118288	117779388	17227128	515	1940										
NLRX1	79671	broad.mit.edu	37	chr11	119044561	119044561	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atccccttctcctgtgaggaCctgtcatccctgggccctgc	9	17	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:119044561C>T	ENST00000409109.1	+	5	1190	c.603C>T	c.(601-603)gaC>gaT	p.D201D	NLRX1_ENST00000292199.2_Silent_p.D201D|NLRX1_ENST00000525863.1_Silent_p.D201D|NLRX1_ENST00000409991.1_Silent_p.D201D|NLRX1_ENST00000409265.4_Silent_p.D201D	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	201	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCTGTGAGGACCTGTCATCCC	0.647																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(601-603)gaC>gaT		NLR family member X1							60	51	54					11																	119044561		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.chr11:119044561C>T	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.603C>T	11.37:g.119044561C>T			Somatic				NLRX1_ENST00000292199.2_Silent_p.D201D|NLRX1_ENST00000409991.1_Silent_p.D201D|NLRX1_ENST00000525863.1_Silent_p.D201D|NLRX1_ENST00000409265.4_Silent_p.D201D	p.D201D			WXS	Illumina GAIIx	Phase_I	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	5	1190	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	201			NACHT.|Required for interaction with MAVS.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	ENST00000409109.1	37	c.603C>T	CCDS8416.1																																																																																				0.647	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		26	45	0	0	0	1	0	26	45					T	119044561	C	T	119044561	2	4	21	1	0	0	0	0	0	0	0	1	10494	506	18	3		3	NLRX1	11	119044561	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1265173	119044561	15961955	516	1941										
OAF	220323	broad.mit.edu	37	chr11	120097673	120097673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgtggatgccatctacacccGccaggaggatgtccggttct	12	13	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:120097673G>A	ENST00000328965.4	+	3	1028	c.515G>A	c.(514-516)cGc>cAc	p.R172H	OAF_ENST00000531220.1_Missense_Mutation_p.R56H	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	172						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)		ATCTACACCCGCCAGGAGGAT	0.647																																						ENST00000328965.4																			0				kidney(1)|lung(5)	6						c.(514-516)cGc>cAc		OAF homolog (Drosophila)							43	38	39					11																	120097673		2203	4300	6503	SO:0001583	missense	220323							g.chr11:120097673G>A	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.515G>A	11.37:g.120097673G>A	ENSP00000332613:p.Arg172His		Somatic				OAF_ENST00000531220.1_Missense_Mutation_p.R56H	p.R172H	NM_178507.2	NP_848602.1	WXS	Illumina GAIIx	Phase_I	Q86UD1	OAF_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)	3	1028	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	172						Missense_Mutation	SNP	ENST00000328965.4	37	c.515G>A	CCDS8430.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229765	0.79688	.	.	ENSG00000184232	ENST00000328965;ENST00000531220	T;T	0.47177	0.85;0.85	5.3	4.39	0.52855	.	0.108226	0.64402	D	0.000008	T	0.68933	0.3055	M	0.80847	2.515	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.74210	-0.3739	10	0.87932	D	0	-20.0037	13.8657	0.63588	0.0738:0.0:0.9262:0.0	.	172	Q86UD1	OAF_HUMAN	H	172;56	ENSP00000332613:R172H;ENSP00000431865:R56H	ENSP00000332613:R172H	R	+	2	0	OAF	119602883	1.000000	0.71417	1.000000	0.80357	0.472000	0.32918	9.402000	0.97298	1.228000	0.43614	0.462000	0.41574	CGC		0.647	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	NM_178507		27	24	0	0	0	1	0	27	24					A	120097673	G	A	120097673	3	1	21	1	0	0	0	0	1	0	0	0	10807	1087	38	1	525	1	OAF	11	120097673	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1053112	120097673	14908843	517	1942										
TECTA	7007	broad.mit.edu	37	chr11	120983885	120983885	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gggacggcgagtggcggcgaCcccctgacaggtcttggtgg					rs562490470		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:120983885delC	ENST00000392793.1	+	5	862	c.591delC	c.(589-591)gacfs	p.D197fs	TECTA_ENST00000264037.2_Frame_Shift_Del_p.D197fs			O75443	TECTA_HUMAN	tectorin alpha	197	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.		D -> N (in DFNA12). {ECO:0000269|PubMed:21520338}.		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)		GTGGCGGCGACCCCCTGACAG	0.582											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(589-591)gafs		tectorin alpha							69	68	68					11																	120983885		2203	4299	6502	SO:0001589	frameshift_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120983885delC	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.591delC	11.37:g.120983885delC	ENSP00000376543:p.Asp197fs		Somatic	OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1508	TECTA_ENST00000264037.2_Frame_Shift_Del_p.D197fs	p.D197fs			WXS	Illumina GAIIx	Phase_I	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	5	862	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	197			NIDO.			Frame_Shift_Del	DEL	ENST00000392793.1	37	c.591delC	CCDS8434.1																																																																																				0.582	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		40	75						40	75	---	---	---	---	-	120983885	C	-	120983885	7	5	21	1	0	1	0	1	0	0	0	0	15762	506	18	0	605	0	TECTA	11	120983885	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	886212	120983885	14022631	518	1943										
EI24	9538	broad.mit.edu	37	chr11	125453541	125453541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaagttcccttcaccgcatcCgtcgcctgccaaactgaagg	9	15	1	1	rs371870792		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:125453541C>T	ENST00000278903.6	+	12	1225	c.983C>T	c.(982-984)cCg>cTg	p.P328L	EI24_ENST00000343678.4_3'UTR|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	329					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)		TCACCGCATCCGTCGCCTGCC	0.547																																						ENST00000278903.6																			0				large_intestine(1)|lung(9)|ovary(1)	11						c.(982-984)cCg>cTg		etoposide induced 2.4		C	,LEU/PRO	1,3863		0,1,1931	42	40	41		,985	5.2	0.5	11		41	0,8254		0,0,4127	no	utr-3,missense	EI24	NM_001007277.1,NM_004879.3	,98	0,1,6058	TT,TC,CC		0.0,0.0259,0.0083	,	,329/341	125453541	1,12117	1932	4127	6059	SO:0001583	missense	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125453541C>T	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.983C>T	11.37:g.125453541C>T	ENSP00000278903:p.Pro328Leu		Somatic				EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000343678.4_3'UTR	p.P328L	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)	12	1225	+	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)	329					A8K7D6|B4DKL6|Q9BUQ1	Missense_Mutation	SNP	ENST00000278903.6	37	c.983C>T		.	.	.	.	.	.	.	.	.	.	C	13.90	2.375888	0.42105	2.59E-4	0.0	ENSG00000149547	ENST00000278903	.	.	.	5.21	5.21	0.72293	.	0.450573	0.24980	N	0.034064	T	0.54481	0.1861	.	.	.	0.80722	D	1	B;B	0.27971	0.0;0.196	B;B	0.12156	0.0;0.007	T	0.52975	-0.8503	8	0.42905	T	0.14	.	18.3797	0.90446	0.0:1.0:0.0:0.0	.	315;329	B4DKL6;O14681	.;EI24_HUMAN	L	328	.	ENSP00000278903:P328L	P	+	2	0	EI24	124958751	0.985000	0.35326	0.452000	0.26994	0.957000	0.61999	3.073000	0.50057	2.440000	0.82611	0.655000	0.94253	CCG		0.547	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879		14	9	0	0	0	1	0	14	9					T	125453541	C	T	125453541	3	4	21	1	0	0	0	0	1	0	0	0	4987	652	23	1	1023	1	EI24	11	125453541	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	4469656	125453541	9552975	519	1944										
ARHGAP32	9743	broad.mit.edu	37	chr11	128843210	128843210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gagttgaggcttgctgtgcgGactcagctaatgctagcgcc	14	10	1	1	rs370318111		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:128843210G>A	ENST00000310343.9	-	21	3148	c.3149C>T	c.(3148-3150)tCc>tTc	p.S1050F	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S701F|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S701F	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1050					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						TTGCTGTGCGGACTCAGCTAA	0.512																																						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.(3148-3150)tCc>tTc		Rho GTPase activating protein 32							140	151	147					11																	128843210		2200	4297	6497	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.chr11:128843210G>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.3149C>T	11.37:g.128843210G>A	ENSP00000310561:p.Ser1050Phe		Somatic				ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S701F|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S701F	p.S1050F	NM_001142685.1	NP_001136157.1	WXS	Illumina GAIIx	Phase_I	A7KAX9	RHG32_HUMAN			21	3148	-			1050					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.3149C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146960	0.77888	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.19394	2.15;2.15;2.15	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.10989	-1.0606	10	0.66056	D	0.02	.	20.0027	0.97425	0.0:0.0:1.0:0.0	.	1050	A7KAX9	RHG32_HUMAN	F	1050;701;701	ENSP00000310561:S1050F;ENSP00000376425:S701F;ENSP00000432862:S701F	ENSP00000310561:S1050F	S	-	2	0	ARHGAP32	128348420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.993000	0.93524	2.733000	0.93635	0.655000	0.94253	TCC		0.512	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		79	114	0	0	0	1	0	79	114					A	128843210	G	A	128843210	3	1	21	1	0	0	0	0	1	0	0	0	881	1174	41	3	3122	3	ARHGAP32	11	128843210	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3389669	128843210	6163306	520	1945										
OPCML	4978	broad.mit.edu	37	chr11	132306088	132306088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaaagtcagagtggacatgcGgcctttgttttcaatcctca	10	9	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:132306088G>A	ENST00000331898.7	-	6	1407	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	OPCML_ENST00000541867.1_Missense_Mutation_p.R277C|OPCML_ENST00000374778.4_Missense_Mutation_p.R236C|OPCML_ENST00000524381.1_Missense_Mutation_p.R270C|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	277	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)		GTGGACATGCGGCCTTTGTTT	0.463																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(829-831)Cgc>Tgc		opioid binding protein/cell adhesion molecule-like							161	146	151					11																	132306088		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132306088G>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.829C>T	11.37:g.132306088G>A	ENSP00000330862:p.Arg277Cys		Somatic				OPCML_ENST00000524381.1_Missense_Mutation_p.R270C|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.R277C|OPCML_ENST00000374778.4_Missense_Mutation_p.R236C	p.R277C	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	1407	-	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)	277			Ig-like C2-type 3.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.829C>T	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781903	0.49891	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.306181	0.37669	N	0.001991	T	0.62307	0.2417	L	0.41824	1.3	0.47621	D	0.999478	B;B;B;B	0.20780	0.048;0.005;0.02;0.02	B;B;B;B	0.17098	0.017;0.01;0.017;0.017	T	0.55945	-0.8060	10	0.46703	T	0.11	-4.2775	19.8961	0.96958	0.0:0.0:1.0:0.0	.	277;270;276;277	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	C	277;270;236;244;277	ENSP00000330862:R277C;ENSP00000434750:R270C;ENSP00000363910:R236C;ENSP00000445496:R277C	ENSP00000330862:R277C	R	-	1	0	OPCML	131811298	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	5.548000	0.67255	2.803000	0.96430	0.650000	0.86243	CGC		0.463	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		29	62	0	0	0	1	0	29	62					A	132306088	G	A	132306088	3	1	21	1	0	0	0	0	1	0	0	0	10883	1116	39	1	216	1	OPCML	11	132306088	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3462878	132306088	2700428	521	1946										
WNT5B	81029	broad.mit.edu	37	chr12	1748922	1748922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgccatcagccgggcctgccGcgagggcgagctctccacct	13	18	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:1748922G>A	ENST00000397196.2	+	4	633	c.401G>A	c.(400-402)cGc>cAc	p.R134H	WNT5B_ENST00000310594.3_Missense_Mutation_p.R134H|WNT5B_ENST00000537031.1_Missense_Mutation_p.R134H|WNT5B_ENST00000542408.1_Intron	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	134				R -> S (in Ref. 1; AAG38659). {ECO:0000305}.	cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CGGGCCTGCCGCGAGGGCGAG	0.731																																						ENST00000397196.2																			0				skin(1)	1						c.(400-402)cGc>cAc		wingless-type MMTV integration site family, member 5B							10	13	12					12																	1748922		2169	4157	6326	SO:0001583	missense	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1748922G>A	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"Wingless-type MMTV integration sites"	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.401G>A	12.37:g.1748922G>A	ENSP00000380379:p.Arg134His		Somatic				WNT5B_ENST00000310594.3_Missense_Mutation_p.R134H|WNT5B_ENST00000542408.1_Intron|WNT5B_ENST00000537031.1_Missense_Mutation_p.R134H	p.R134H	NM_032642.2	NP_116031.1	WXS	Illumina GAIIx	Phase_I	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		4	633	+	Ovarian(42;0.107)		134	R -> S (in Ref. 1; AAG38659).				A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	c.401G>A	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878901	0.91740	.	.	ENSG00000111186	ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.88198	0.6372	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.89453	0.3731	9	.	.	.	.	16.3663	0.83325	0.0:0.0:1.0:0.0	.	134	Q9H1J7	WNT5B_HUMAN	H	134	ENSP00000445395:R134H;ENSP00000439312:R134H;ENSP00000308887:R134H;ENSP00000380379:R134H;ENSP00000442348:R134H	.	R	+	2	0	WNT5B	1619183	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	7.807000	0.86032	2.102000	0.63906	0.313000	0.20887	CGC		0.731	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			4	15	0	0	0	1	0	4	15					A	1748922	G	A	1748922	3	1	21	1	0	0	0	0	1	0	0	0	17407	1087	38	1	411	1	WNT5B	12	1748922	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08		1748922	132102973	522	1947										
CACNA1C	775	broad.mit.edu	37	chr12	2614074	2614074	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cactaatcatcatagggtcaTtttttgtacttaacttggtt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:2614074delT	ENST00000347598.4	+	8	1180	c.1180delT	c.(1180-1182)tttfs	p.F395fs	CACNA1C_ENST00000327702.7_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399644.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399629.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399637.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399638.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399649.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399597.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399655.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399591.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000344100.3_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399621.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399606.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399601.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399595.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000335762.5_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000402845.3_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000480911.1_Frame_Shift_Del_p.F395fs	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	395					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)	CATAGGGTCATTTTTTGTACT	0.403																																						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.(1180-1182)ttfs		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						116	114	114					12																	2614074		1916	4144	6060	SO:0001589	frameshift_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.chr12:2614074delT	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.1180delT	12.37:g.2614074delT	ENSP00000266376:p.Phe395fs		Somatic				CACNA1C_ENST00000399621.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399595.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399591.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399638.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000402845.3_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000480911.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000347598.4_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399644.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399601.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399629.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399597.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000335762.5_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000327702.7_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000344100.3_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399649.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399606.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399637.1_Frame_Shift_Del_p.F395fs	p.F395fs	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)	8	1445	+			395					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	Frame_Shift_Del	DEL	ENST00000347598.4	37	c.1180delT	CCDS44788.1																																																																																				0.403	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		18	26						18	26	---	---	---	---	-	2614074	T	-	2614074	7	5	21	1	0	1	0	1	0	0	0	0	2542	1493	52	0	1318	0	CACNA1C	12	2614074	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	865152	2614074	131237821	523	1948										
TSPAN9	10867	broad.mit.edu	37	chr12	3392257	3392257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cctcttccagcacatccaccGgactggtaagaagtacgacg	9	14	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:3392257G>A	ENST00000011898.5	+	9	856	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	TSPAN9_ENST00000537971.1_Missense_Mutation_p.R232Q	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	232						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			CACATCCACCGGACTGGTAAG	0.637																																						ENST00000011898.5																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11						c.(694-696)cGg>cAg		tetraspanin 9							82	68	72					12																	3392257		2203	4300	6503	SO:0001583	missense	10867					integral to plasma membrane|membrane fraction		g.chr12:3392257G>A	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"Tetraspanins"	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.695G>A	12.37:g.3392257G>A	ENSP00000011898:p.Arg232Gln		Somatic				TSPAN9_ENST00000537971.1_Missense_Mutation_p.R232Q	p.R232Q	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)		9	856	+			232					D3DUQ7|Q53FV2|Q6FGJ8	Missense_Mutation	SNP	ENST00000011898.5	37	c.695G>A	CCDS8520.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033320	0.93575	.	.	ENSG00000011105	ENST00000537971;ENST00000011898	T;T	0.41065	1.01;1.01	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.45296	0.1335	M	0.63169	1.94	0.80722	D	1	P	0.35844	0.524	B	0.37387	0.248	T	0.46693	-0.9173	10	0.49607	T	0.09	.	16.3568	0.83237	0.0:0.0:1.0:0.0	.	232	O75954	TSN9_HUMAN	Q	232	ENSP00000444799:R232Q;ENSP00000011898:R232Q	ENSP00000011898:R232Q	R	+	2	0	TSPAN9	3262518	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.739000	0.84976	2.443000	0.82685	0.644000	0.83932	CGG		0.637	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675		4	106	0	0	0	1	0	4	106					A	3392257	G	A	3392257	3	1	21	1	0	0	0	0	1	0	0	0	16669	1116	39	1	721	1	TSPAN9	12	3392257	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	778183	3392257	130459638	524	1949										
CHD4	1108	broad.mit.edu	37	chr12	6703716	6703716	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggtgtcagtgccctgagccCaggagaagcgcaaccaattc	12	12	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:6703716C>T	ENST00000357008.2	-	15	2385	c.2222G>A	c.(2221-2223)tGg>tAg	p.W741*	CHD4_ENST00000309577.6_Nonsense_Mutation_p.W741*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.W738*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.W734*	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	741	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						GCCCTGAGCCCAGGAGAAGCG	0.522																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(2221-2223)tGg>tAg		chromodomain helicase DNA binding protein 4							134	119	124					12																	6703716		2203	4300	6503	SO:0001587	stop_gained	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.chr12:6703716C>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.2222G>A	12.37:g.6703716C>T	ENSP00000349508:p.Trp741*		Somatic				CHD4_ENST00000357008.2_Nonsense_Mutation_p.W741*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.W738*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.W734*	p.W741*			WXS	Illumina GAIIx	Phase_I	Q14839	CHD4_HUMAN			15	2385	-			741			Helicase ATP-binding.		Q8IXZ5	Nonsense_Mutation	SNP	ENST00000357008.2	37	c.2222G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	41	8.794205	0.98956	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8675	0.92298	0.0:1.0:0.0:0.0	.	.	.	.	X	738;734;741;741;715	.	ENSP00000312419:W741X	W	-	2	0	CHD4	6573977	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.625000	0.83145	2.686000	0.91538	0.591000	0.81541	TGG		0.522	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		43	56	0	0	0	1	0	43	56					T	6703716	C	T	6703716	4	4	21	1	0	0	0	0	0	1	0	0	3329	595	21	3	3620	3	CHD4	12	6703716	Nonsense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3311459	6703716	127148179	525	1950										
LPCAT3	10162	broad.mit.edu	37	chr12	7090985	7090985	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cactcaccaatcagcttcaaAgtcagaacacaatgtggcat	6	12	4	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:7090985A>T	ENST00000261407.4	-	4	532	c.447T>A	c.(445-447)acT>acA	p.T149T	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'Flank	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	149					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TCAGCTTCAAAGTCAGAACAC	0.522																																						ENST00000261407.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						c.(445-447)acT>acA		lysophosphatidylcholine acyltransferase 3							179	147	158					12																	7090985		2203	4300	6503	SO:0001819	synonymous_variant	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7090985A>T	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.447T>A	12.37:g.7090985A>T			Somatic				U47924.19_ENST00000564245.1_RNA	p.T149T	NM_005768.5	NP_005759.4	WXS	Illumina GAIIx	Phase_I	Q6P1A2	MBOA5_HUMAN			4	532	-			149					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Silent	SNP	ENST00000261407.4	37	c.447T>A	CCDS8572.1																																																																																				0.522	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		5	81	0	0	0	1	0	5	81					T	7090985	A	T	7090985	2	4	21	1	0	0	0	0	0	0	0	1	8921	59	3	4		4	LPCAT3	12	7090985	Silent	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	387269	7090985	126760910	526	1951										
CLSTN3	9746	broad.mit.edu	37	chr12	7301617	7301617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tccctgaagtggagggctacGtggtcgtccttcagcctgac	13	12	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:7301617G>A	ENST00000266546.6	+	13	2347	c.1897G>A	c.(1897-1899)Gtg>Atg	p.V633M	CLSTN3_ENST00000537408.1_Missense_Mutation_p.V645M	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	633					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						GGAGGGCTACGTGGTCGTCCT	0.587																																						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.(1933-1935)Gtg>Atg		calsyntenin 3							93	71	79					12																	7301617		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7301617G>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.1897G>A	12.37:g.7301617G>A	ENSP00000266546:p.Val633Met		Somatic				CLSTN3_ENST00000266546.6_Missense_Mutation_p.V633M	p.V645M			WXS	Illumina GAIIx	Phase_I	Q9BQT9	CSTN3_HUMAN			12	2471	+			633					D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.1933G>A	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433046	0.83776	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.52983	0.64;0.64	5.56	4.64	0.57946	.	0.162026	0.41712	D	0.000834	T	0.58977	0.2160	M	0.68952	2.095	0.49582	D	0.9998	P;D	0.59357	0.813;0.985	B;P	0.56648	0.108;0.803	T	0.62732	-0.6792	10	0.87932	D	0	-22.7778	11.431	0.50041	0.0:0.1355:0.7237:0.1408	.	645;633	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	M	633;645	ENSP00000266546:V633M;ENSP00000440679:V645M	ENSP00000266546:V633M	V	+	1	0	CLSTN3	7192884	0.997000	0.39634	0.997000	0.53966	0.907000	0.53573	2.697000	0.47060	2.618000	0.88619	0.561000	0.74099	GTG		0.587	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		19	34	0	0	0	1	0	19	34					A	7301617	G	A	7301617	3	1	21	1	0	0	0	0	1	0	0	0	3565	1145	40	1	1947	1	CLSTN3	12	7301617	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	210632	7301617	126550278	527	1952										
LRP6	4040	broad.mit.edu	37	chr12	12334194	12334194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agatccatctataaatgaacGgcgtatggccctcacttcat	7	11	3	2	rs148238873	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:12334194G>A	ENST00000261349.4	-	6	1232	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	LRP6_ENST00000543091.1_Missense_Mutation_p.R386C	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	386	Beta-propeller 2.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATAAATGAACGGCGTATGGCC	0.463													G|||	2	0.000399361	0	0.0029	5008	,	,		20065	0		0	False		,,,				2504	0					ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(1156-1158)Cgt>Tgt		low density lipoprotein receptor-related protein 6		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	211	175	187		1156	5.8	1	12	dbSNP_134	187	0,8600		0,0,4300	yes	missense	LRP6	NM_002336.2	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	386/1614	12334194	2,13004	2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12334194G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1156C>T	12.37:g.12334194G>A	ENSP00000261349:p.Arg386Cys		Somatic				LRP6_ENST00000543091.1_Missense_Mutation_p.R386C	p.R386C	NM_002336.2	NP_002327.2	WXS	Illumina GAIIx	Phase_I	O75581	LRP6_HUMAN			6	1232	-		Prostate(47;0.0865)	386			Beta-propeller 2.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.1156C>T	CCDS8647.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	29.6	5.021975	0.93462	4.54E-4	0.0	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.96200	-3.94;-3.94	5.82	5.82	0.92795	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000006	D	0.97770	0.9268	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	D	0.96190	0.9137	10	0.72032	D	0.01	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	386;386	F5H7J9;O75581	.;LRP6_HUMAN	C	386	ENSP00000261349:R386C;ENSP00000442472:R386C	ENSP00000261349:R386C	R	-	1	0	LRP6	12225461	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.508000	0.73721	2.752000	0.94435	0.655000	0.94253	CGT		0.463	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			65	94	0	0	0	1	0	65	94					A	12334194	G	A	12334194	3	1	21	1	0	0	0	0	1	0	0	0	8971	1116	39	1	3757	1	LRP6	12	12334194	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	5032577	12334194	121517701	528	1953										
MANSC1	54682	broad.mit.edu	37	chr12	12483294	12483294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggttggagatttctgtaaaCggtatggtttctaagctgcc	12	6	2	1	rs146158847	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:12483294C>T	ENST00000535902.1	-	4	1526	c.963G>A	c.(961-963)ccG>ccA	p.P321P	MANSC1_ENST00000396349.3_Silent_p.P287P|MANSC1_ENST00000545735.1_Silent_p.P240P			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	321	Thr-rich.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TTTCTGTAAACGGTATGGTTT	0.458													C|||	20	0.00399361	0.0106	0.0086	5008	,	,		22640	0		0	False		,,,				2504	0					ENST00000535902.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23						c.(961-963)ccG>ccA		MANSC domain containing 1		C		26,4380	32.6+/-62.9	1,24,2178	130	122	124		963	-5.9	0	12	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MANSC1	NM_018050.2		1,25,6477	TT,TC,CC		0.0116,0.5901,0.2076		321/432	12483294	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	54682					integral to membrane		g.chr12:12483294C>T	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.963G>A	12.37:g.12483294C>T			Somatic				MANSC1_ENST00000545735.1_Silent_p.P240P|MANSC1_ENST00000396349.3_Silent_p.P287P	p.P321P			WXS	Illumina GAIIx	Phase_I	Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	4	1526	-		Prostate(47;0.0865)	321			Thr-rich.		Q8NEC1|Q9NW60	Silent	SNP	ENST00000535902.1	37	c.963G>A	CCDS8648.1																																																																																				0.458	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		44	87	0	0	0	1	0	44	87					T	12483294	C	T	12483294	2	4	21	1	0	0	0	0	0	0	0	1	9233	523	19	1		1	MANSC1	12	12483294	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	149100	12483294	121368601	529	1954										
GPRC5A	9052	broad.mit.edu	37	chr12	13061187	13061187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttttctgcaggtccagaatgGctacaacagtccctgatggt	10	10	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:13061187G>A	ENST00000014914.5	+	2	894	c.4G>A	c.(4-6)Gct>Act	p.A2T	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	2					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)	GTCCAGAATGGCTACAACAGT	0.473																																						ENST00000014914.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(4-6)Gct>Act		G protein-coupled receptor, family C, group 5, member A	Tretinoin(DB00755)						50	51	51					12																	13061187		2203	4300	6503	SO:0001583	missense	0					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	g.chr12:13061187G>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.4G>A	12.37:g.13061187G>A	ENSP00000014914:p.Ala2Thr		Somatic				GPRC5A_ENST00000542056.1_Intron	p.A2T	NM_003979.3	NP_003970.1	WXS	Illumina GAIIx	Phase_I	Q8NFJ5	RAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0708)	2	894	+		Prostate(47;0.141)	2					B3KV45|O95357	Missense_Mutation	SNP	ENST00000014914.5	37	c.4G>A	CCDS8657.1	.	.	.	.	.	.	.	.	.	.	G	2.952	-0.216564	0.06101	.	.	ENSG00000013588	ENST00000014914;ENST00000534831	T;T	0.17528	2.3;2.27	5.1	-10.2	0.00374	.	2.024010	0.02378	N	0.078546	T	0.06917	0.0176	N	0.14661	0.345	0.09310	N	0.999991	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.26018	-1.0115	10	0.02654	T	1	-8.4832	7.874	0.29582	0.5221:0.0:0.079:0.3989	.	2;2	Q8NFJ5;A8K556	RAI3_HUMAN;.	T	2	ENSP00000014914:A2T;ENSP00000441627:A2T	ENSP00000014914:A2T	A	+	1	0	GPRC5A	12952454	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-1.081000	0.03403	-3.228000	0.00210	-1.251000	0.01509	GCT		0.473	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1			23	25	0	0	0	1	0	23	25					A	13061187	G	A	13061187	3	1	21	1	0	0	0	0	1	0	0	0	6733	1203	42	3	6	3	GPRC5A	12	13061187	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	577893	13061187	120790708	530	1955										
PIK3C2G	5288	broad.mit.edu	37	chr12	18499635	18499635	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctaccagctaatcaatgtctActgtaacagcttttatgcag	6	10	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:18499635A>G	ENST00000266497.5	+	10	1528	c.1490A>G	c.(1489-1491)tAc>tGc	p.Y497C	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.Y497C|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.Y497C|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Y497C			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	497	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATCAATGTCTACTGTAACAGC	0.423																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(1489-1491)tAc>tGc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							177	178	178					12																	18499635		1929	4128	6057	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18499635A>G	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1490A>G	12.37:g.18499635A>G	ENSP00000266497:p.Tyr497Cys		Somatic				PIK3C2G_ENST00000535651.1_Missense_Mutation_p.Y497C|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Y497C|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.Y497C	p.Y497C	NM_004570.4	NP_004561.3	WXS	Illumina GAIIx	Phase_I	O75747	P3C2G_HUMAN			11	1606	+		Hepatocellular(102;0.194)	497					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.1490A>G	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.541816	0.45280	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.76316	0.55;-0.67;-0.67;-1.01	3.98	3.98	0.46160	Phosphoinositide 3-kinase, C2 (1);	0.852017	0.10310	N	0.690156	D	0.85470	0.5704	M	0.70275	2.135	0.20975	N	0.999817	D;D;D	0.65815	0.992;0.995;0.992	P;P;P	0.61201	0.77;0.885;0.77	T	0.74272	-0.3719	10	0.87932	D	0	-8.5075	11.5817	0.50896	1.0:0.0:0.0:0.0	.	496;497;497	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	C	497	ENSP00000443850:Y497C;ENSP00000404845:Y497C;ENSP00000266497:Y497C;ENSP00000445381:Y497C	ENSP00000266497:Y497C	Y	+	2	0	PIK3C2G	18390902	0.852000	0.29690	0.015000	0.15790	0.926000	0.56050	3.680000	0.54641	2.030000	0.59900	0.454000	0.30748	TAC		0.423	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		21	46	0	0	0	1	0	21	46					G	18499635	A	G	18499635	3	3	21	1	0	0	0	0	1	0	0	0	11920	391	14	4	1528	4	PIK3C2G	12	18499635	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	5438448	18499635	115352260	531	1956										
PLEKHA5	54477	broad.mit.edu	37	chr12	19427544	19427545	+	Frame_Shift_Ins	INS	-	-	A													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	accagagatccaaaacaatcINSaaaaaaacaaggaaatgagc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:19427544_19427545insA	ENST00000299275.6	+	10	928_929	c.922_923insA	c.(922-924)caafs	p.Q308fs	PLEKHA5_ENST00000429027.2_Frame_Shift_Ins_p.Q314fs|PLEKHA5_ENST00000355397.3_Frame_Shift_Ins_p.Q308fs|PLEKHA5_ENST00000359180.3_Frame_Shift_Ins_p.Q308fs|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000424268.1_Frame_Shift_Ins_p.Q200fs|PLEKHA5_ENST00000539256.1_Frame_Shift_Ins_p.Q66fs|PLEKHA5_ENST00000543806.1_Frame_Shift_Ins_p.Q200fs|PLEKHA5_ENST00000317589.4_Frame_Shift_Ins_p.Q308fs|PLEKHA5_ENST00000309364.4_Frame_Shift_Ins_p.Q308fs|PLEKHA5_ENST00000538714.1_Frame_Shift_Ins_p.Q308fs	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	308					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)					CCAAAACAATCAAAAAAACAAG	0.327																																					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.(922-924)aaafs		pleckstrin homology domain containing, family A member 5																																				SO:0001589	frameshift_variant	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19427544_19427545insA	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.929dupA	12.37:g.19427551_19427551dupA	ENSP00000299275:p.Gln308fs		Somatic				PLEKHA5_ENST00000317589.4_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000355397.3_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000299275.6_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000543806.1_Frame_Shift_Ins_p.K200fs|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000424268.1_Frame_Shift_Ins_p.K200fs|PLEKHA5_ENST00000429027.2_Frame_Shift_Ins_p.K314fs|PLEKHA5_ENST00000359180.3_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000309364.4_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000539256.1_Frame_Shift_Ins_p.K66fs	p.K308fs	NM_001143821.2	NP_001137293.2	WXS	Illumina GAIIx	Phase_I	Q9HAU0	PKHA5_HUMAN			10	926_927	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		308					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Frame_Shift_Ins	INS	ENST00000299275.6	37	c.922_923insA	CCDS8682.1																																																																																				0.327	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		23	29						23	29	---	---	---	---	A	19427545	-	A	19427544	7	5	21	1	0	1	1	0	0	0	0	0	12068	827	29	0	960	0	PLEKHA5	12	19427544	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	927909	19427544	114424351	532	1957										
SLCO1C1	53919	broad.mit.edu	37	chr12	20864412	20864412	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cagtcaattaccagtttcagTtatggaaaaatcaaaatcca	5	8	3	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:20864412T>C	ENST00000266509.2	+	5	865	c.497T>C	c.(496-498)gTt>gCt	p.V166A	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.V166A|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.V166A|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.V48A|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.V166A	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	166					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CCAGTTTCAGTTATGGAAAAA	0.343																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(496-498)gTt>gCt		solute carrier organic anion transporter family, member 1C1							112	112	112					12																	20864412		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20864412T>C	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.497T>C	12.37:g.20864412T>C	ENSP00000266509:p.Val166Ala		Somatic				SLCO1C1_ENST00000545102.1_Missense_Mutation_p.V48A|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.V166A|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.V166A|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.V166A	p.V166A			WXS	Illumina GAIIx	Phase_I	Q9NYB5	SO1C1_HUMAN			5	865	+	Esophageal squamous(101;0.149)		166					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.497T>C	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	T	0.681	-0.798305	0.02841	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.57752	1.25;0.38;1.25;1.25;1.25	4.41	2.02	0.26589	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.182910	0.05901	N	0.629968	T	0.29061	0.0722	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.12013	0.004;0.0;0.005;0.0	B;B;B;B	0.11329	0.006;0.002;0.005;0.002	T	0.19582	-1.0301	10	0.02654	T	1	.	6.9392	0.24483	0.0:0.3016:0.0:0.6984	.	48;166;166;166	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	A	166;166;166;166;48	ENSP00000444149:V166A;ENSP00000438665:V166A;ENSP00000266509:V166A;ENSP00000370964:V166A;ENSP00000444527:V48A	ENSP00000266509:V166A	V	+	2	0	SLCO1C1	20755679	0.002000	0.14202	0.001000	0.08648	0.022000	0.10575	0.464000	0.21988	0.236000	0.21180	0.533000	0.62120	GTT		0.343	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		24	40	0	0	0	1	0	24	40					C	20864412	T	C	20864412	3	2	21	1	0	0	0	0	1	0	0	0	14740	1725	60	4	511	4	SLCO1C1	12	20864412	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1436868	20864412	112987483	533	1958										
KIF21A	55605	broad.mit.edu	37	chr12	39745622	39745623	+	Frame_Shift_Ins	INS	-	-	T													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cttttcaacttctctaaatcINStttttttgctaggtctataa							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:39745622_39745623insT	ENST00000361418.5	-	11	1644_1645	c.1629_1630insA	c.(1627-1632)aaagatfs	p.D544fs	KIF21A_ENST00000395670.3_Frame_Shift_Ins_p.D544fs|KIF21A_ENST00000361961.3_Frame_Shift_Ins_p.D544fs|KIF21A_ENST00000541463.2_Frame_Shift_Ins_p.D544fs|KIF21A_ENST00000544797.2_Frame_Shift_Ins_p.D544fs			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	544					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)				TTCTCTAAATCTTTTTTTGCTA	0.337																																						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.(1627-1632)aaatttfs		kinesin family member 21A																																				SO:0001589	frameshift_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39745622_39745623insT	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.1630dupA	12.37:g.39745629_39745629dupT	ENSP00000354878:p.Asp544fs		Somatic				KIF21A_ENST00000541463.2_Frame_Shift_Ins_p.F544fs|KIF21A_ENST00000544797.2_Frame_Shift_Ins_p.F544fs|KIF21A_ENST00000361961.3_Frame_Shift_Ins_p.F544fs|KIF21A_ENST00000361418.5_Frame_Shift_Ins_p.F544fs	p.F544fs			WXS	Illumina GAIIx	Phase_I	Q7Z4S6	KI21A_HUMAN			11	2048_2049	-		Lung NSC(34;0.179)|all_lung(34;0.213)	544					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Frame_Shift_Ins	INS	ENST00000361418.5	37	c.1629_1630insA	CCDS53776.1																																																																																				0.337	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		32	44						32	44	---	---	---	---	T	39745623	-	T	39745622	7	5	21	1	0	1	1	0	0	0	0	0	8297	913	32	0	3506	0	KIF21A	12	39745622	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	18881210	39745622	94106273	534	1959										
PUS7L	83448	broad.mit.edu	37	chr12	44139886	44139886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cttccataattctctccctcAggtttgcagaatcatttatt	4	11	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:44139886A>G	ENST00000416848.2	-	4	1714	c.1226T>C	c.(1225-1227)cTg>cCg	p.L409P	PUS7L_ENST00000551923.1_Missense_Mutation_p.L409P|PUS7L_ENST00000344862.5_Missense_Mutation_p.L409P|PUS7L_ENST00000431332.3_Missense_Mutation_p.L96P	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	409					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)		TCTCTCCCTCAGGTTTGCAGA	0.338																																						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.(1225-1227)cTg>cCg		pseudouridylate synthase 7 homolog (S. cerevisiae)-like							42	41	42					12																	44139886		2202	4294	6496	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44139886A>G	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.1226T>C	12.37:g.44139886A>G	ENSP00000415899:p.Leu409Pro		Somatic				PUS7L_ENST00000431332.3_Missense_Mutation_p.L96P|PUS7L_ENST00000344862.5_Missense_Mutation_p.L409P|PUS7L_ENST00000551923.1_Missense_Mutation_p.L409P	p.L409P	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)	4	1714	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	409					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.1226T>C	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.088847	0.55968	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332;ENST00000550784;ENST00000547156	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	4.45	3.33	0.38152	Pseudouridine synthase, catalytic domain (1);	0.162334	0.42053	D	0.000770	T	0.52108	0.1714	M	0.63428	1.95	0.80722	D	1	D	0.63046	0.992	P	0.58077	0.832	T	0.54016	-0.8356	10	0.52906	T	0.07	-2.0775	9.8769	0.41209	0.9167:0.0:0.0833:0.0	.	409	Q9H0K6	PUS7L_HUMAN	P	409;409;409;96;96;96	ENSP00000415899:L409P;ENSP00000343081:L409P;ENSP00000447706:L409P;ENSP00000398497:L96P;ENSP00000449222:L96P;ENSP00000450341:L96P	ENSP00000343081:L409P	L	-	2	0	PUS7L	42426153	0.965000	0.33210	0.742000	0.31022	0.717000	0.41224	4.159000	0.58157	1.933000	0.56026	0.460000	0.39030	CTG		0.338	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		6	13	0	0	0	1	0	6	13					G	44139886	A	G	44139886	3	3	21	1	0	0	0	0	1	0	0	0	12849	188	7	4	903	4	PUS7L	12	44139886	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	4394264	44139886	89712009	535	1960										
HDAC7	51564	broad.mit.edu	37	chr12	48181527	48181527	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggtactcaggatcccccatGggggggtccagacctccagc					rs577738209		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:48181527delG	ENST00000427332.2	-	21	2460	c.2304delC	c.(2302-2304)cccfs	p.P768fs	HDAC7_ENST00000488927.1_5'Flank|HDAC7_ENST00000380610.4_Frame_Shift_Del_p.P824fs|HDAC7_ENST00000552960.1_Frame_Shift_Del_p.P790fs|HDAC7_ENST00000080059.7_Frame_Shift_Del_p.P807fs|HDAC7_ENST00000354334.3_Frame_Shift_Del_p.P770fs			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	768	Histone deacetylase.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GATCCCCCATGGGGGGGTCCA	0.622																																						ENST00000080059.7																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2419-2421)ccfs		histone deacetylase 7							26	28	27					12																	48181527		2202	4300	6502	SO:0001589	frameshift_variant	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48181527delG	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"histone deacetylase 7A"	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.2304delC	12.37:g.48181527delG	ENSP00000404394:p.Pro768fs		Somatic				HDAC7_ENST00000354334.3_Frame_Shift_Del_p.P770fs|HDAC7_ENST00000427332.2_Frame_Shift_Del_p.P768fs|HDAC7_ENST00000380610.4_Frame_Shift_Del_p.P824fs|HDAC7_ENST00000552960.1_Frame_Shift_Del_p.P790fs	p.P807fs	NM_015401.3	NP_056216.2	WXS	Illumina GAIIx	Phase_I	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	21	2420	-			768			Histone deacetylase.		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Frame_Shift_Del	DEL	ENST00000427332.2	37	c.2421delC																																																																																					0.622	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			11	9						11	9	---	---	---	---	-	48181527	G	-	48181527	7	5	21	1	0	1	0	1	0	0	0	0	7021	1335	47	0	578	0	HDAC7	12	48181527	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	4041641	48181527	85670368	536	1961										
ADCY6	112	broad.mit.edu	37	chr12	49176478	49176478	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggaggagcgtgtaggcgatgTagacaaagaacacagggcac	16	7	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:49176478T>C	ENST00000307885.4	-	1	1434	c.740A>G	c.(739-741)tAc>tGc	p.Y247C	ADCY6_ENST00000357869.3_Missense_Mutation_p.Y247C|ADCY6_ENST00000550422.1_Missense_Mutation_p.Y247C	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	247					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						GTAGGCGATGTAGACAAAGAA	0.662																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(739-741)tAc>tGc		adenylate cyclase 6							27	31	30					12																	49176478		2202	4297	6499	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49176478T>C		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.740A>G	12.37:g.49176478T>C	ENSP00000311405:p.Tyr247Cys		Somatic				ADCY6_ENST00000550422.1_Missense_Mutation_p.Y247C|ADCY6_ENST00000357869.3_Missense_Mutation_p.Y247C	p.Y247C	NM_015270.3	NP_056085.1	WXS	Illumina GAIIx	Phase_I	O43306	ADCY6_HUMAN			1	1434	-			247					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.740A>G	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176016	0.78564	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.23552	1.9;1.9;1.9	5.19	5.19	0.71726	.	0.156254	0.43919	D	0.000502	T	0.53562	0.1804	M	0.83483	2.645	0.58432	D	0.999991	D;D	0.89917	0.999;1.0	D;D	0.74023	0.978;0.982	T	0.60984	-0.7154	10	0.87932	D	0	.	14.0326	0.64624	0.0:0.0:0.0:1.0	.	247;247	O43306-2;O43306	.;ADCY6_HUMAN	C	247	ENSP00000350536:Y247C;ENSP00000446730:Y247C;ENSP00000311405:Y247C	ENSP00000311405:Y247C	Y	-	2	0	ADCY6	47462745	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.040000	0.89188	1.970000	0.57323	0.459000	0.35465	TAC		0.662	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		5	13	0	0	0	1	0	5	13					C	49176478	T	C	49176478	3	2	21	1	0	0	0	0	1	0	0	0	298	1638	57	4	2850	4	ADCY6	12	49176478	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	994951	49176478	84675417	537	1962										
DDN	23109	broad.mit.edu	37	chr12	49392006	49392006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcggccggtcccagcggcgtCgtggggcggtcccggcagaa	19	14	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:49392006C>T	ENST00000421952.2	-	2	674	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	218	Interaction with MAGI2.					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						CCAGCGGCGTCGTGGGGCGGT	0.716																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(652-654)cGa>cAa		dendrin							15	18	17					12																	49392006		2102	4139	6241	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49392006C>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.653G>A	12.37:g.49392006C>T	ENSP00000390590:p.Arg218Gln		Somatic					p.R218Q	NM_015086.1	NP_055901.2	WXS	Illumina GAIIx	Phase_I	O94850	DEND_HUMAN			2	674	-			218			Interaction with MAGI2.			Missense_Mutation	SNP	ENST00000421952.2	37	c.653G>A	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208511	0.58343	.	.	ENSG00000181418	ENST00000421952	T	0.59364	0.27	3.56	3.56	0.40772	.	0.000000	0.34932	N	0.003577	T	0.38374	0.1038	L	0.27053	0.805	0.33263	D	0.559944	P	0.50272	0.933	B	0.40825	0.341	T	0.49560	-0.8927	10	0.30854	T	0.27	-23.6925	7.0102	0.24857	0.0:0.8802:0.0:0.1198	.	218	O94850	DEND_HUMAN	Q	218	ENSP00000390590:R218Q	ENSP00000390590:R218Q	R	-	2	0	DDN	47678273	0.003000	0.15002	0.998000	0.56505	0.724000	0.41520	1.330000	0.33781	2.302000	0.77476	0.561000	0.74099	CGA		0.716	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			27	40	0	0	0	1	0	27	40					T	49392006	C	T	49392006	3	4	21	1	0	0	0	0	1	0	0	0	4335	884	31	1	1486	1	DDN	12	49392006	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	215528	49392006	84459889	538	1963										
MLL2	8085	broad.mit.edu	37	chr12	49421827	49421827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cccccttctttggctcagtgCctgcccgggcggggctctct	12	17	3	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:49421827C>T	ENST00000301067.7	-	46	14479	c.14480G>A	c.(14479-14481)gGc>gAc	p.G4827D		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4827					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)										TGGCTCAGTGCCTGCCCGGGC	0.607																																						ENST00000301067.7																			0											c.(14479-14481)gGc>gAc		lysine (K)-specific methyltransferase 2D							49	55	53					12																	49421827		2026	4176	6202	SO:0001583	missense	8085							g.chr12:49421827C>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.14480G>A	12.37:g.49421827C>T	ENSP00000301067:p.Gly4827Asp		Somatic					p.G4827D	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					46	14479	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.14480G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	9.690	1.151630	0.21371	.	.	ENSG00000167548	ENST00000301067	T	0.79940	-1.32	5.04	4.15	0.48705	.	0.392221	0.18930	N	0.127251	T	0.70824	0.3268	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.64002	-0.6509	10	0.87932	D	0	.	8.4935	0.33115	0.1526:0.7648:0.0:0.0825	.	4827	O14686	MLL2_HUMAN	D	4827	ENSP00000301067:G4827D	ENSP00000301067:G4827D	G	-	2	0	MLL2	47708094	0.391000	0.25221	0.970000	0.41538	0.827000	0.46813	2.440000	0.44855	1.276000	0.44395	-0.258000	0.10820	GGC		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			21	27	0	0	0	1	0	21	27					T	49421827	C	T	49421827	3	4	21	1	0	0	0	0	1	0	0	0	9630	739	26	3	2169	3	MLL2	12	49421827	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	29821	49421827	84430068	539	1964										
MLL2	8085	broad.mit.edu	37	chr12	49434073	49434074	+	Frame_Shift_Ins	INS	-	-	C													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcgggcagggctgctgggaaINSccccccagcccccagcgaag					rs10747559	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:49434073_49434074insC	ENST00000301067.7	-	31	7478_7479	c.7479_7480insG	c.(7477-7482)gggttcfs	p.F2494fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2494	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)										GCTGCTGGGAACCCCCCAGCCC	0.653																																						ENST00000301067.7																			0											c.(7477-7482)ggtcccfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49434073_49434074insC	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.7480dupG	12.37:g.49434079_49434079dupC	ENSP00000301067:p.Phe2494fs		Somatic					p.P2494fs	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					31	7478_7479	-								O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.7479_7480insG	CCDS44873.1																																																																																				0.653	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			25	64						25	64	---	---	---	---	C	49434074	-	C	49434073	7	5	21	1	0	1	1	0	0	0	0	0	9630	43	2	0	9229	0	MLL2	12	49434073	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	12246	49434073	84417822	540	1965										
MLL2	8085	broad.mit.edu	37	chr12	49440431	49440431	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccttggggacggtgagcagtGgggggtccaggcagtatgtg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:49440431delG	ENST00000301067.7	-	15	4378	c.4379delC	c.(4378-4380)ccafs	p.P1460fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1460	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGTGAGCAGTGGGGGGTCCAG	0.562																																						ENST00000301067.7																			0											c.(4378-4380)cafs		lysine (K)-specific methyltransferase 2D							95	101	99					12																	49440431		2046	4184	6230	SO:0001589	frameshift_variant	8085							g.chr12:49440431delG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4379delC	12.37:g.49440431delG	ENSP00000301067:p.Pro1460fs		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			52	123						52	123	---	---	---	---	-	49440431	G	-	49440431	7	5	21	1	0	1	0	1	0	0	0	0	9630	1348	47	0	12394	0	MLL2	12	49440431	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	6358	49440431	84411464	541	1966										
SCN8A	6334	broad.mit.edu	37	chr12	52200125	52200125	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccccaaccctattccgagtcAtccgattggcccgtattggg	9	15	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:52200125A>G	ENST00000354534.6	+	27	5033	c.4855A>G	c.(4855-4857)Atc>Gtc	p.I1619V	SCN8A_ENST00000545061.1_Missense_Mutation_p.I1578V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1619					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)	ATTCCGAGTCATCCGATTGGC	0.458																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(4855-4857)Atc>Gtc		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						164	171	169					12																	52200125		2020	4215	6235	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.chr12:52200125A>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.4855A>G	12.37:g.52200125A>G	ENSP00000346534:p.Ile1619Val		Somatic				SCN8A_ENST00000545061.1_Missense_Mutation_p.I1578V	p.I1619V	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	5033	+			1619					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.4855A>G	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.922470	0.52653	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.98362	-4.89;-4.89	5.31	5.31	0.75309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95875	0.8657	N	0.16201	0.385	0.80722	D	1	P	0.44578	0.838	P	0.47786	0.557	D	0.95530	0.8602	10	0.30854	T	0.27	.	15.7455	0.77936	1.0:0.0:0.0:0.0	.	1619	Q9UQD0	SCN8A_HUMAN	V	1619;1578	ENSP00000346534:I1619V;ENSP00000440360:I1578V	ENSP00000346534:I1619V	I	+	1	0	SCN8A	50486392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.139000	0.94554	2.367000	0.80283	0.528000	0.53228	ATC		0.458	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		88	116	0	0	0	1	0	88	116					G	52200125	A	G	52200125	3	3	21	1	0	0	0	0	1	0	0	0	13939	217	8	4	4957	4	SCN8A	12	52200125	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	2759694	52200125	81651770	542	1967										
NR4A1	3164	broad.mit.edu	37	chr12	52451181	52451181	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atcttctgctcaggcctggtGctacaccggctgcagtgtgc	12	13	3	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:52451181G>A	ENST00000243050.1	+	7	1721	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V	RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000550082.1_Silent_p.V482V|NR4A1_ENST00000545748.1_Silent_p.V523V|NR4A1_ENST00000394824.2_Silent_p.V469V|NR4A1_ENST00000360284.3_Silent_p.V482V|NR4A1_ENST00000394825.1_Silent_p.V469V	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	469					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CAGGCCTGGTGCTACACCGGC	0.602																																						ENST00000545748.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(1567-1569)gtG>gtA		nuclear receptor subfamily 4, group A, member 1							110	96	101					12																	52451181		2203	4300	6503	SO:0001819	synonymous_variant	0				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52451181G>A	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"Nuclear hormone receptors"	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1407G>A	12.37:g.52451181G>A			Somatic				NR4A1_ENST00000550082.1_Silent_p.V482V|NR4A1_ENST00000394825.1_Silent_p.V469V|NR4A1_ENST00000394824.2_Silent_p.V469V|NR4A1_ENST00000243050.1_Silent_p.V469V|NR4A1_ENST00000360284.3_Silent_p.V482V	p.V523V			WXS	Illumina GAIIx	Phase_I	P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	7	2564	+			469					B4DML7|Q15627|Q53Y00|Q6IBU8	Silent	SNP	ENST00000243050.1	37	c.1569G>A	CCDS8818.1																																																																																				0.602	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			30	49	0	0	0	1	0	30	49					A	52451181	G	A	52451181	2	1	21	1	0	0	0	0	0	0	0	1	10641	1306	46	3		3	NR4A1	12	52451181	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	251056	52451181	81400714	543	1968										
KRT76	51350	broad.mit.edu	37	chr12	53162616	53162616	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctggatgctgccagagctggAgcccattccactgtggctca	12	13	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:53162616A>T	ENST00000332411.2	-	9	1851	c.1798T>A	c.(1798-1800)Tcc>Acc	p.S600T		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	600	Tail.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCAGAGCTGGAGCCCATTCCA	0.622																																						ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1798-1800)Tcc>Acc		keratin 76							86	80	82					12																	53162616		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53162616A>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1798T>A	12.37:g.53162616A>T	ENSP00000330101:p.Ser600Thr		Somatic					p.S600T	NM_015848.4	NP_056932.2	WXS	Illumina GAIIx	Phase_I	Q01546	K22O_HUMAN			9	1851	-			600			Tail.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.1798T>A	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	A	8.868	0.948675	0.18356	.	.	ENSG00000185069	ENST00000332411	D	0.82433	-1.61	4.57	4.57	0.56435	.	1.061520	0.07450	N	0.898812	T	0.66896	0.2836	N	0.08118	0	0.19945	N	0.999948	P	0.37466	0.596	B	0.29077	0.098	T	0.56044	-0.8044	10	0.32370	T	0.25	.	11.9953	0.53198	1.0:0.0:0.0:0.0	.	600	Q01546	K22O_HUMAN	T	600	ENSP00000330101:S600T	ENSP00000330101:S600T	S	-	1	0	KRT76	51448883	0.000000	0.05858	0.727000	0.30756	0.271000	0.26615	0.413000	0.21148	1.843000	0.53566	0.460000	0.39030	TCC		0.622	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		25	47	0	0	0	1	0	25	47					T	53162616	A	T	53162616	3	4	21	1	0	0	0	0	1	0	0	0	8498	304	11	4	122	4	KRT76	12	53162616	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	711435	53162616	80689279	544	1969										
KRT4	3851	broad.mit.edu	37	chr12	53202570	53202570	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgctgtccaggtccaggttgCggttgttgtccatggaaagg	15	8	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:53202570C>T	ENST00000551956.1	-	5	1391	c.899G>A	c.(898-900)cGc>cAc	p.R300H	KRT4_ENST00000458244.2_Missense_Mutation_p.R280H|KRT4_ENST00000293774.4_Missense_Mutation_p.R374H			P19013	K2C4_HUMAN	keratin 4	314	Linker 12.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GTCCAGGTTGCGGTTGTTGTC	0.592																																					Pancreas(190;284 2995 41444 45903)	ENST00000293774.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						c.(1120-1122)cGc>cAc		keratin 4							109	98	101					12																	53202570		2203	4300	6503	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53202570C>T		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.899G>A	12.37:g.53202570C>T	ENSP00000448220:p.Arg300His		Somatic				KRT4_ENST00000458244.2_Missense_Mutation_p.R280H|KRT4_ENST00000551956.1_Missense_Mutation_p.R300H	p.R374H			WXS	Illumina GAIIx	Phase_I	B4DRS2	B4DRS2_HUMAN			5	1391	-			300					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.1121G>A	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	36	5.748052	0.96882	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.92752	-3.1;-2.22;-2.22	5.75	5.75	0.90469	Filament (1);	0.000000	0.47852	D	0.000219	D	0.96213	0.8765	M	0.80616	2.505	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	D	0.95922	0.8931	10	0.72032	D	0.01	.	20.3312	0.98718	0.0:1.0:0.0:0.0	.	314	P19013	K2C4_HUMAN	H	300;374;280	ENSP00000448220:R300H;ENSP00000293774:R374H;ENSP00000387904:R280H	ENSP00000293774:R374H	R	-	2	0	KRT4	51488837	1.000000	0.71417	0.970000	0.41538	0.907000	0.53573	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	CGC		0.592	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		31	47	0	0	0	1	0	31	47					T	53202570	C	T	53202570	3	4	21	1	0	0	0	0	1	0	0	0	8486	768	27	1	683	1	KRT4	12	53202570	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	39954	53202570	80649325	545	1970										
RNF41	10193	broad.mit.edu	37	chr12	56600292	56600293	+	Frame_Shift_Ins	INS	-	-	C													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggctcttgcaccatgtcatINScccccatgtgctggttctca							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:56600292_56600293insC	ENST00000345093.4	-	7	1261_1262	c.892_893insG	c.(892-894)gatfs	p.D298fs	RNF41_ENST00000394013.2_Frame_Shift_Ins_p.D227fs|RNF41_ENST00000552656.1_Frame_Shift_Ins_p.D298fs	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	298					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						CACCATGTCATCCCCCATGTGC	0.515											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000345093.4																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						c.(892-894)tgafs		ring finger protein 41																																				SO:0001589	frameshift_variant	10193				apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:56600292_56600293insC	AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"RING-type (C3HC4) zinc fingers"	18401	protein-coding gene	gene with protein product			"ring finger protein 41"				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.893dupG	12.37:g.56600297_56600297dupC	ENSP00000342755:p.Asp298fs		Somatic	OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1016	RNF41_ENST00000394013.2_Frame_Shift_Ins_p.*227fs|RNF41_ENST00000552656.1_Frame_Shift_Ins_p.*298fs	p.*298fs	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	WXS	Illumina GAIIx	Phase_I	Q9H4P4	RNF41_HUMAN			7	1261_1262	-			298					A6NFW0|B2RBT8|O75598	Frame_Shift_Ins	INS	ENST00000345093.4	37	c.892_893insG	CCDS8909.1																																																																																				0.515	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408525.1	NM_005785		128	143						128	143	---	---	---	---	C	56600293	-	C	56600292	7	5	21	1	0	1	1	0	0	0	0	0	13509	1435	50	0	64	0	RNF41	12	56600292	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	3397722	56600292	77251603	546	1971										
TSPAN31	6302	broad.mit.edu	37	chr12	58139606	58139606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccagcatccacatcatcggcGgagtcattgctgtgggagtc	12	12	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:58139606G>A	ENST00000257910.3	+	2	416	c.142G>A	c.(142-144)Gga>Aga	p.G48R	TSPAN31_ENST00000547992.1_Missense_Mutation_p.G48R|TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000547472.1_Intron	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31	48					positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CATCATCGGCGGAGTCATTGC	0.552																																						ENST00000547992.1																			0				endometrium(1)|kidney(1)|lung(5)	7						c.(142-144)Gga>Aga		tetraspanin 31							150	131	137					12																	58139606		2203	4300	6503	SO:0001583	missense	0				positive regulation of cell proliferation	integral to plasma membrane|membrane fraction		g.chr12:58139606G>A		CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"Tetraspanins"	10539	protein-coding gene	gene with protein product		181035	"sarcoma amplified sequence"	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999		ENST00000257910.3:c.142G>A	12.37:g.58139606G>A	ENSP00000257910:p.Gly48Arg		Somatic				TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000257910.3_Missense_Mutation_p.G48R|TSPAN31_ENST00000547472.1_Intron	p.G48R			WXS	Illumina GAIIx	Phase_I	Q12999	TSN31_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		2	274	+	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		48					O00577|Q53X76	Missense_Mutation	SNP	ENST00000257910.3	37	c.142G>A	CCDS8952.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145059	0.94603	.	.	ENSG00000135452	ENST00000257910;ENST00000547992	T	0.79247	-1.25	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.87696	0.6242	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.73380	0.881;0.98	D	0.85899	0.1433	10	0.25106	T	0.35	-7.1142	16.6554	0.85227	0.0:0.0:1.0:0.0	.	48;48	F8VS78;Q12999	.;TSN31_HUMAN	R	48	ENSP00000257910:G48R	ENSP00000257910:G48R	G	+	1	0	TSPAN31	56425873	1.000000	0.71417	0.990000	0.47175	0.896000	0.52359	9.192000	0.94947	2.539000	0.85634	0.460000	0.39030	GGA		0.552	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408778.1			33	95	0	0	0	1	0	33	95					A	58139606	G	A	58139606	3	1	21	1	0	0	0	0	1	0	0	0	16661	1117	39	1	148	1	TSPAN31	12	58139606	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1539314	58139606	75712289	547	1972										
MDM1	56890	broad.mit.edu	37	chr12	68724964	68724964	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aagactcggacaaataagacTttttccacaggaagttcctc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:68724964delT	ENST00000303145.7	-	2	142	c.56delA	c.(55-57)aagfs	p.K19fs	MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000430606.2_Frame_Shift_Del_p.K19fs|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000393543.3_Frame_Shift_Del_p.K19fs|RP11-81H14.2_ENST00000541707.1_lincRNA|MDM1_ENST00000411698.2_Frame_Shift_Del_p.K19fs	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	19					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CAAATAAGACTTTTTCCACAG	0.423																																						ENST00000303145.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33						c.(55-57)agfs		Mdm1 nuclear protein homolog (mouse)							124	126	125					12																	68724964		2203	4300	6503	SO:0001589	frameshift_variant	56890					nucleus		g.chr12:68724964delT	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.56delA	12.37:g.68724964delT	ENSP00000302537:p.Lys19fs		Somatic				MDM1_ENST00000393543.3_Frame_Shift_Del_p.K19fs|MDM1_ENST00000411698.2_Frame_Shift_Del_p.K19fs|MDM1_ENST00000430606.2_Frame_Shift_Del_p.K19fs|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000545724.1_5'UTR	p.K19fs	NM_017440.4	NP_059136.2	WXS	Illumina GAIIx	Phase_I	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	2	142	-			19					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Frame_Shift_Del	DEL	ENST00000303145.7	37	c.56delA	CCDS8983.1																																																																																				0.423	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		56	82						56	82	---	---	---	---	-	68724964	T	-	68724964	7	5	21	1	0	1	0	1	0	0	0	0	9421	1609	56	0	2311	0	MDM1	12	68724964	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	10585358	68724964	65126931	548	1973										
TRHDE	29953	broad.mit.edu	37	chr12	72666576	72666576	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcgatgggggaagacgacgcCgcgcttcgggctggcagcag	19	11	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:72666576C>T	ENST00000261180.4	+	1	114	c.18C>T	c.(16-18)gcC>gcT	p.A6A	TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	6					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						AAGACGACGCCGCGCTTCGGG	0.662																																						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.(16-18)gcC>gcT		thyrotropin-releasing hormone degrading enzyme							8	10	9					12																	72666576		2135	4181	6316	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72666576C>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.18C>T	12.37:g.72666576C>T			Somatic				TRHDE-AS1_ENST00000426250.3_RNA	p.A6A	NM_013381.2	NP_037513.1	WXS	Illumina GAIIx	Phase_I	Q9UKU6	TRHDE_HUMAN			1	114	+			6					A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.18C>T	CCDS9004.1																																																																																				0.662	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		11	10	0	0	0	1	0	11	10					T	72666576	C	T	72666576	2	4	21	1	0	0	0	0	0	0	0	1	16494	639	23	1		1	TRHDE	12	72666576	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3941612	72666576	61185319	549	1974										
MYF6	4618	broad.mit.edu	37	chr12	81102659	81102659	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgtcagcctcgagtagccttCgatgcctttcttccatcgtg	9	14	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:81102659C>T	ENST00000228641.3	+	3	871	c.649C>T	c.(649-651)Cga>Tga	p.R217*		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	217					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GAGTAGCCTTCGATGCCTTTC	0.527																																						ENST00000228641.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						c.(649-651)Cga>Tga		myogenic factor 6 (herculin)							171	148	156					12																	81102659		2203	4300	6503	SO:0001587	stop_gained	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81102659C>T		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.649C>T	12.37:g.81102659C>T	ENSP00000228641:p.Arg217*		Somatic					p.R217*	NM_002469.2	NP_002460.1	WXS	Illumina GAIIx	Phase_I	P23409	MYF6_HUMAN			3	871	+			217					B2R898|Q53X80|Q6FHI9	Nonsense_Mutation	SNP	ENST00000228641.3	37	c.649C>T	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	C	37	6.437397	0.97568	.	.	ENSG00000111046	ENST00000228641	.	.	.	5.6	5.6	0.85130	.	0.191189	0.46442	D	0.000289	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-17.1862	17.393	0.87437	0.0:1.0:0.0:0.0	.	.	.	.	X	217	.	ENSP00000228641:R217X	R	+	1	2	MYF6	79626790	0.959000	0.32827	0.985000	0.45067	0.981000	0.71138	5.048000	0.64238	2.638000	0.89438	0.591000	0.81541	CGA		0.527	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		58	51	0	0	0	1	0	58	51					T	81102659	C	T	81102659	4	4	21	1	0	0	0	0	0	1	0	0	10037	876	31	1	659	1	MYF6	12	81102659	Nonsense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	8436083	81102659	52749236	550	1975										
ANKS1B	56899	broad.mit.edu	37	chr12	99145154	99145154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acggacttgcgaatgctaacGcggggcttggggatgggttt	17	7	0	0	rs369534902		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:99145154G>A	ENST00000547776.2	-	25	3650	c.3651C>T	c.(3649-3651)cgC>cgT	p.R1217R	ANKS1B_ENST00000341752.7_Silent_p.R223R|ANKS1B_ENST00000546960.1_Silent_p.R443R|ANKS1B_ENST00000550693.2_Silent_p.R407R|ANKS1B_ENST00000549493.2_Silent_p.R467R|ANKS1B_ENST00000329257.7_Silent_p.R1217R|ANKS1B_ENST00000549025.2_Silent_p.R315R|ANKS1B_ENST00000546568.1_Silent_p.R383R|ANKS1B_ENST00000549558.2_Silent_p.R383R|ANKS1B_ENST00000332712.7_Silent_p.R407R|ANKS1B_ENST00000333732.7_Silent_p.R247R|ANKS1B_ENST00000547446.1_Silent_p.R352R|ANKS1B_ENST00000547010.1_Silent_p.R733R	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1217						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)		GAATGCTAACGCGGGGCTTGG	0.498																																						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.(3649-3651)cgC>cgT		ankyrin repeat and sterile alpha motif domain containing 1B							113	114	114					12																	99145154		1847	4084	5931	SO:0001819	synonymous_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99145154G>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.3651C>T	12.37:g.99145154G>A			Somatic				ANKS1B_ENST00000550693.2_Silent_p.R407R|ANKS1B_ENST00000549493.2_Silent_p.R467R|ANKS1B_ENST00000547446.1_Silent_p.R352R|ANKS1B_ENST00000549025.2_Silent_p.R315R|ANKS1B_ENST00000341752.7_Silent_p.R223R|ANKS1B_ENST00000549558.2_Silent_p.R383R|ANKS1B_ENST00000329257.7_Silent_p.R1217R|ANKS1B_ENST00000547010.1_Silent_p.R733R|ANKS1B_ENST00000333732.7_Silent_p.R247R|ANKS1B_ENST00000546568.1_Silent_p.R383R|ANKS1B_ENST00000546960.1_Silent_p.R443R|ANKS1B_ENST00000332712.7_Silent_p.R407R	p.R1217R	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	3650	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	1217					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	c.3651C>T	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509358	0.27036	.	.	ENSG00000185046	ENST00000550778	.	.	.	4.78	-7.75	0.01236	.	.	.	.	.	T	0.34658	0.0905	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42766	-0.9432	4	.	.	.	-6.6601	1.8357	0.03139	0.3073:0.0982:0.1189:0.4756	.	.	.	.	V	489	.	.	A	-	2	0	ANKS1B	97669285	0.000000	0.05858	0.926000	0.36857	0.998000	0.95712	-2.003000	0.01463	-1.086000	0.03084	0.561000	0.74099	GCG		0.498	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		18	32	0	0	0	1	0	18	32					A	99145154	G	A	99145154	2	1	21	1	0	0	0	0	0	0	0	1	689	1074	38	1		1	ANKS1B	12	99145154	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	18042495	99145154	34706741	551	1976										
SCYL2	55681	broad.mit.edu	37	chr12	100709497	100709497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cttggccctgtgtttaagcaGcaggagccaatccaggtatg	12	10	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:100709497G>A	ENST00000360820.2	+	9	1694	c.1257G>A	c.(1255-1257)caG>caA	p.Q419Q		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	419					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						TGTTTAAGCAGCAGGAGCCAA	0.338																																						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.(1255-1257)caG>caA		SCY1-like 2 (S. cerevisiae)							67	62	63					12																	100709497		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:100709497G>A	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.1257G>A	12.37:g.100709497G>A			Somatic					p.Q419Q	NM_017988.4	NP_060458.3	WXS	Illumina GAIIx	Phase_I	Q6P3W7	SCYL2_HUMAN			9	1694	+			419					A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	SNP	ENST00000360820.2	37	c.1257G>A	CCDS9076.1																																																																																				0.338	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		17	20	0	0	0	1	0	17	20					A	100709497	G	A	100709497	2	1	21	1	0	0	0	0	0	0	0	1	13963	962	34	3		3	SCYL2	12	100709497	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1564343	100709497	33142398	552	1977										
ANO4	121601	broad.mit.edu	37	chr12	101437381	101437381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtgataaatactgtccattcAtgaggctgtcagacagctgt	10	8	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:101437381A>G	ENST00000392977.3	+	13	1429	c.1219A>G	c.(1219-1221)Atg>Gtg	p.M407V	ANO4_ENST00000392979.3_Missense_Mutation_p.M372V|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	407					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						CTGTCCATTCATGAGGCTGTC	0.393										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.(1114-1116)Atg>Gtg		anoctamin 4							170	155	160					12																	101437381		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101437381A>G	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1219A>G	12.37:g.101437381A>G	ENSP00000376703:p.Met407Val	HNSCC(74;0.22)	Somatic				ANO4_ENST00000392977.3_Missense_Mutation_p.M407V|ANO4_ENST00000299222.9_5'UTR	p.M372V	NM_178826.3	NP_849148.2	WXS	Illumina GAIIx	Phase_I	Q32M45	ANO4_HUMAN			12	1475	+			407					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1114A>G		.	.	.	.	.	.	.	.	.	.	A	14.05	2.419224	0.42918	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.67865	-0.29;-0.29	5.33	5.33	0.75918	.	0.052219	0.85682	D	0.000000	T	0.59224	0.2178	L	0.29908	0.895	0.80722	D	1	B;B	0.22800	0.075;0.034	B;B	0.29524	0.103;0.048	T	0.59273	-0.7485	10	0.62326	D	0.03	.	15.5909	0.76526	1.0:0.0:0.0:0.0	.	407;372	Q32M45;Q32M45-2	ANO4_HUMAN;.	V	372;407	ENSP00000376705:M372V;ENSP00000376703:M407V	ENSP00000376703:M407V	M	+	1	0	ANO4	99961512	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.606000	0.46291	2.142000	0.66516	0.533000	0.62120	ATG		0.393	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		22	43	0	0	0	1	0	22	43					G	101437381	A	G	101437381	3	3	21	1	0	0	0	0	1	0	0	0	699	217	8	4	1156	4	ANO4	12	101437381	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	727884	101437381	32414514	553	1978										
UTP20	27340	broad.mit.edu	37	chr12	101768587	101768587	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgtggtttatttttggtagcGcttaaatagacaacttgctg	10	5	0	1	rs573079112		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:101768587G>A	ENST00000261637.4	+	55	7307	c.7133G>A	c.(7132-7134)cGc>cAc	p.R2378H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2378					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						TTTTGGTAGCGCTTAAATAGA	0.398																																						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.e55-1		UTP20, small subunit (SSU) processome component, homolog (yeast)							193	193	193					12																	101768587		2203	4300	6503	SO:0001630	splice_region_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.chr12:101768587G>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7132-1G>A	12.37:g.101768587G>A			Somatic					p.R2378_splice	NM_014503.2	NP_055318.2	WXS	Illumina GAIIx	Phase_I	O75691	UTP20_HUMAN			55	7307	+			2378					Q9H3H4	Splice_Site	SNP	ENST00000261637.4	37	c.7131_splice	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690508	0.48097	.	.	ENSG00000120800	ENST00000261637	T	0.66460	-0.21	6.04	4.24	0.50183	Armadillo-type fold (1);	0.408604	0.31612	N	0.007358	T	0.51907	0.1702	L	0.29908	0.895	0.09310	N	0.999992	B	0.06786	0.001	B	0.04013	0.001	T	0.43972	-0.9358	10	0.44086	T	0.13	-0.014	9.2178	0.37358	0.2227:0.0:0.7773:0.0	.	2378	O75691	UTP20_HUMAN	H	2378	ENSP00000261637:R2378H	ENSP00000261637:R2378H	R	+	2	0	UTP20	100292718	0.903000	0.30736	0.069000	0.20011	0.808000	0.45660	1.473000	0.35387	0.901000	0.36495	0.563000	0.77884	CGC		0.398	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	Missense_Mutation	44	99	0	0	0	1	0	44	99					A	101768587	G	A	101768587	5	1	21	1	0	0	0	0	0	0	1	0	17114	1101	38	1	7351	1	UTP20	12	101768587	Splice_Site	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	331206	101768587	32083308	554	1979										
NUP37	79023	broad.mit.edu	37	chr12	102468812	102468812	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aaatgatgaatttgaaactgGcttgccattttgccaggata	9	6	0	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:102468812G>A	ENST00000552283.1	-	9	973	c.834C>T	c.(832-834)agC>agT	p.S278S	NUP37_ENST00000251074.1_Silent_p.S278S|RP11-554E23.4_ENST00000552707.1_RNA			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	278					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						TTTGAAACTGGCTTGCCATTT	0.343																																						ENST00000552283.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						c.(832-834)agC>agT		nucleoporin 37kDa							90	83	85					12																	102468812		2203	4300	6503	SO:0001819	synonymous_variant	79023				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr12:102468812G>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.834C>T	12.37:g.102468812G>A			Somatic				NUP37_ENST00000251074.1_Silent_p.S278S	p.S278S			WXS	Illumina GAIIx	Phase_I	Q8NFH4	NUP37_HUMAN			9	973	-			278					Q9H644	Silent	SNP	ENST00000552283.1	37	c.834C>T	CCDS9089.1																																																																																				0.343	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		22	24	0	0	0	1	0	22	24					A	102468812	G	A	102468812	2	1	21	1	0	0	0	0	0	0	0	1	10773	1194	42	3		3	NUP37	12	102468812	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	700225	102468812	31383083	555	1980										
SLC41A2	84102	broad.mit.edu	37	chr12	105282851	105282851	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aaggcagttgccacactgctAgagcacagaagtatggaatg	12	8	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:105282851A>G	ENST00000258538.3	-	4	967	c.840T>C	c.(838-840)tcT>tcC	p.S280S		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	280					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						CCACACTGCTAGAGCACAGAA	0.388																																					Esophageal Squamous(195;176 2919 4272 35572)	ENST00000258538.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						c.(838-840)tcT>tcC		solute carrier family 41 (magnesium transporter), member 2							105	104	104					12																	105282851		2203	4300	6503	SO:0001819	synonymous_variant	84102					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr12:105282851A>G	BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"Solute carriers"	31045	protein-coding gene	gene with protein product		610802	"solute carrier family 41, member 2"				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.840T>C	12.37:g.105282851A>G			Somatic					p.S280S	NM_032148.3	NP_115524.3	WXS	Illumina GAIIx	Phase_I	Q96JW4	S41A2_HUMAN			4	967	-			280					Q3KP68|Q9H0E5	Silent	SNP	ENST00000258538.3	37	c.840T>C	CCDS9100.2	.	.	.	.	.	.	.	.	.	.	A	5.854	0.341712	0.11069	.	.	ENSG00000136052	ENST00000437220	.	.	.	5.55	-5.18	0.02840	.	.	.	.	.	T	0.61627	0.2362	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61237	-0.7103	4	.	.	.	-15.5932	13.2689	0.60150	0.3684:0.0827:0.5489:0.0	.	.	.	.	P	136	.	.	L	-	2	0	SLC41A2	103806981	0.270000	0.24152	0.881000	0.34555	0.791000	0.44710	-0.451000	0.06795	-1.323000	0.02275	-1.963000	0.00474	CTA		0.388	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3	NM_032148		45	56	0	0	0	1	0	45	56					G	105282851	A	G	105282851	2	3	21	1	0	0	0	0	0	0	0	1	14645	407	15	4		4	SLC41A2	12	105282851	Silent	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	2814039	105282851	28569044	556	1981										
C12orf51	283450	broad.mit.edu	37	chr12	112621993	112621993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggcttgaaagctgttacctCcacgactgcgaagcctttga	10	11	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:112621993C>T	ENST00000430131.2	-	60	10656	c.9511G>A	c.(9511-9513)Gag>Aag	p.E3171K	HECTD4_ENST00000550722.1_Missense_Mutation_p.E3447K|HECTD4_ENST00000377560.5_Missense_Mutation_p.E3421K			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3171					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)										GCTGTTACCTCCACGACTGCG	0.527																																						ENST00000550722.1																			0											c.(10339-10341)Gag>Aag		HECT domain containing E3 ubiquitin protein ligase 4							100	113	109					12																	112621993		1909	4116	6025	SO:0001583	missense	283450							g.chr12:112621993C>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.9511G>A	12.37:g.112621993C>T	ENSP00000404379:p.Glu3171Lys		Somatic				HECTD4_ENST00000430131.2_Missense_Mutation_p.E3171K|HECTD4_ENST00000377560.5_Missense_Mutation_p.E3421K	p.E3447K	NM_001109662.3	NP_001103132.3	WXS	Illumina GAIIx	Phase_I					61	10734	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.10339G>A		.	.	.	.	.	.	.	.	.	.	C	28.6	4.934498	0.92458	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.55234	0.53;0.54;0.53	5.4	5.4	0.78164	.	.	.	.	.	T	0.60209	0.2251	N	0.19112	0.55	0.58432	D	0.999999	P	0.52842	0.956	D	0.65010	0.931	T	0.65162	-0.6235	9	0.87932	D	0	.	19.5504	0.95315	0.0:1.0:0.0:0.0	.	3171	Q9Y4D8	K0614_HUMAN	K	3421;3171;3447	ENSP00000366783:E3421K;ENSP00000404379:E3171K;ENSP00000449784:E3447K	ENSP00000366783:E3421K	E	-	1	0	C12orf51	111106376	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.249000	0.78278	2.688000	0.91661	0.655000	0.94253	GAG		0.527	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		121	165	0	0	0	1	0	121	165					T	112621993	C	T	112621993	3	4	21	1	0	0	0	0	1	0	0	0	1698	864	30	3	2543	3	C12orf51	12	112621993	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	7339142	112621993	21229902	557	1982										
RFC5	5985	broad.mit.edu	37	chr12	118463610	118463610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctctttccagtggagacatgCgtagggctctgaacattttg	11	9	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:118463610C>T	ENST00000454402.2	+	7	758	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C	RFC5_ENST00000229043.3_Missense_Mutation_p.R129C|RFC5_ENST00000392542.2_Missense_Mutation_p.R193C	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	214					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGAGACATGCGTAGGGCTCT	0.423																																						ENST00000392542.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9						c.(577-579)Cgt>Tgt		replication factor C (activator 1) 5, 36.5kDa							138	131	133					12																	118463610		2203	4300	6503	SO:0001583	missense	5985				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding	g.chr12:118463610C>T		CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"ATPases / AAA-type"	9973	protein-coding gene	gene with protein product		600407	"replication factor C (activator 1) 5 (36.5kD)"			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.640C>T	12.37:g.118463610C>T	ENSP00000408295:p.Arg214Cys		Somatic				RFC5_ENST00000229043.3_Missense_Mutation_p.R129C|RFC5_ENST00000454402.2_Missense_Mutation_p.R214C	p.R193C	NM_181578.3	NP_853556.2	WXS	Illumina GAIIx	Phase_I	P40937	RFC5_HUMAN			8	1110	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		214					A8MZ62|B3KSX8	Missense_Mutation	SNP	ENST00000454402.2	37	c.577C>T	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978405	0.74360	.	.	ENSG00000111445	ENST00000229043;ENST00000454402;ENST00000392542	T;T;T	0.64803	0.09;0.33;-0.12	5.7	2.75	0.32379	.	0.052366	0.64402	D	0.000001	D	0.85894	0.5803	H	0.98866	4.355	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	0.87219	0.2252	10	0.87932	D	0	0.144	10.7592	0.46256	0.2439:0.6402:0.1159:0.0	.	193;228;214	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	C	129;214;193	ENSP00000229043:R129C;ENSP00000408295:R214C;ENSP00000376325:R193C	ENSP00000229043:R129C	R	+	1	0	RFC5	116947993	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.793000	0.62474	0.277000	0.22141	0.650000	0.86243	CGT		0.423	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		38	55	0	0	0	1	0	38	55					T	118463610	C	T	118463610	3	4	21	1	0	0	0	0	1	0	0	0	13263	768	27	1	672	1	RFC5	12	118463610	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	5841617	118463610	15388285	558	1983										
SUDS3	64426	broad.mit.edu	37	chr12	118814517	118814522	+	In_Frame_Del	DEL	GGCCCC	GGCCCC	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atgagtgccgcggggctgctGgccccggccccggcccaggc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:118814517_118814522delGGCCCC	ENST00000543473.1	+	1	333_338	c.21_26delGGCCCC	c.(19-27)ctggccccg>ctg	p.AP10del	RP11-131L12.2_ENST00000605329.1_lincRNA|SUDS3_ENST00000397564.2_In_Frame_Del_p.AP10del	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	10	Mediates interaction with USP17L2.				apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|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)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGGGCTGCTGGCCCCGGCCCCGGCC	0.743																																						ENST00000543473.1																			0				breast(1)|lung(1)	2						c.(19-27)ctg>ct		suppressor of defective silencing 3 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	64426				chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding	g.chr12:118814517_118814522delGGCCCC	AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"sin3A-associated protein, 45kDa"	608250	"suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.21_26delGGCCCC	12.37:g.118814523_118814528delGGCCCC	ENSP00000443988:p.Ala10_Pro11del		Somatic				SUDS3_ENST00000397564.2_In_Frame_Del_p.LAP7del	p.LAP7del	NM_022491.2	NP_071936.2	WXS	Illumina GAIIx	Phase_I	Q9H7L9	SDS3_HUMAN			1	333_338	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		7					Q4KMQ5|Q8N6H0|Q9H8D2	In_Frame_Del	DEL	ENST00000543473.1	37	c.21_26delGGCCCC	CCDS44993.1																																																																																				0.743	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401504.1	NM_022491		5	9						5	9	---	---	---	---	-	118814522	GGCCCC	-	118814517	7	5	21	1	0	1	0	1	0	0	0	0	15382	1335	47	0	23	0	SUDS3	12	118814517	In_Frame_Del	DEL	GGCCCC	TCGA-N7-A4Y0-01A-12D-A28R-08	350907	118814517	15037378	559	1984										
SRRM4	84530	broad.mit.edu	37	chr12	119592107	119592107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcgggagcgcgagcgagcgcGtcggagacgtcggtcctact	18	12	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:119592107G>A	ENST00000267260.4	+	12	1839	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	484	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						GAGCGAGCGCGTCGGAGACGT	0.682																																						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.(1450-1452)cGt>cAt		serine/arginine repetitive matrix 4							15	20	18					12																	119592107		1853	4090	5943	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119592107G>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.1451G>A	12.37:g.119592107G>A	ENSP00000267260:p.Arg484His		Somatic					p.R484H	NM_194286.3	NP_919262.2	WXS	Illumina GAIIx	Phase_I	A7MD48	SRRM4_HUMAN			12	1839	+			484			Arg-rich.|Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.1451G>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100449	0.94245	.	.	ENSG00000139767	ENST00000267260	T	0.49432	0.78	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	L	0.46157	1.445	0.33633	D	0.606319	P	0.50369	0.934	B	0.41813	0.367	T	0.59010	-0.7534	9	.	.	.	-4.4553	18.4529	0.90710	0.0:0.0:1.0:0.0	.	484	A7MD48	SRRM4_HUMAN	H	484	ENSP00000267260:R484H	.	R	+	2	0	SRRM4	118076490	0.763000	0.28462	0.023000	0.16930	0.973000	0.67179	3.747000	0.55134	2.364000	0.80123	0.655000	0.94253	CGT		0.682	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		8	20	0	0	0	1	0	8	20					A	119592107	G	A	119592107	3	1	21	1	0	0	0	0	1	0	0	0	15186	1145	40	1	1497	1	SRRM4	12	119592107	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	777590	119592107	14259788	560	1985										
CIT	11113	broad.mit.edu	37	chr12	120190012	120190012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gctgtagctctgtgagctggCgcttgagctccagtttctgc	13	11	2	2	rs553305582		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:120190012C>T	ENST00000261833.7	-	22	2673	c.2621G>A	c.(2620-2622)cGc>cAc	p.R874H	CIT_ENST00000392521.2_Missense_Mutation_p.R916H|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	874					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)		TGTGAGCTGGCGCTTGAGCTC	0.582													C|||	1	0.000199681	0	0	5008	,	,		20071	0.001		0	False		,,,				2504	0					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.(2746-2748)cGc>cAc		citron (rho-interacting, serine/threonine kinase 21)							32	31	31					12																	120190012		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.chr12:120190012C>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.2621G>A	12.37:g.120190012C>T	ENSP00000261833:p.Arg874His		Somatic				CIT_ENST00000261833.7_Missense_Mutation_p.R874H|CIT_ENST00000537607.1_5'UTR	p.R916H	NM_001206999.1	NP_001193928.1	WXS	Illumina GAIIx	Phase_I	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	23	2802	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	874					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.2747G>A	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.356920|5.356920	0.95854|0.95854	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.67345	.|-0.15;-0.26	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74268|0.74268	0.3694|0.3694	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.80764	.|0.965;0.987;0.994	T|T	0.76719|0.76719	-0.2856|-0.2856	5|10	.|0.62326	.|D	.|0.03	.|.	19.4389|19.4389	0.94809|0.94809	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|916;874;407	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	T|H	502|916;874	.|ENSP00000376306:R916H;ENSP00000261833:R874H	.|ENSP00000261833:R874H	A|R	-|-	1|2	0|0	CIT|CIT	118674395|118674395	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.895000|0.895000	0.52256|0.52256	5.877000|5.877000	0.69675|0.69675	2.597000|2.597000	0.87782|0.87782	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.582	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		19	17	0	0	0	1	0	19	17					T	120190012	C	T	120190012	3	4	21	1	0	0	0	0	1	0	0	0	3440	768	27	1	3566	1	CIT	12	120190012	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	597905	120190012	13661883	561	1986										
COX6A1	1337	broad.mit.edu	37	chr12	120878307	120878307	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctattccataaccctcatgtGaatccacttccaactggcta	4	14	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:120878307G>A	ENST00000229379.2	+	3	334	c.297G>A	c.(295-297)gtG>gtA	p.V99V	AL021546.6_ENST00000551806.1_Intron	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	99					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCCTCATGTGAATCCACTTC	0.458																																						ENST00000229379.2																			0											c.(295-297)gtG>gtA		cytochrome c oxidase subunit VIa polypeptide 1							59	51	54					12																	120878307		2203	4297	6500	SO:0001819	synonymous_variant	1337				respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity	g.chr12:120878307G>A	X15341	CCDS9197.1	12q24	2011-07-04			ENSG00000111775	ENSG00000111775	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2277	protein-coding gene	gene with protein product		602072		COX6A		9284905	Standard	NM_004373		Approved		uc001tyf.2	P12074	OTTHUMG00000047791	ENST00000229379.2:c.297G>A	12.37:g.120878307G>A			Somatic				AL021546.6_ENST00000551806.1_Intron	p.V99V	NM_004373.3	NP_004364.2	WXS	Illumina GAIIx	Phase_I	P12074	CX6A1_HUMAN			3	334	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		99					B2R500|O43714|Q32Q37	Silent	SNP	ENST00000229379.2	37	c.297G>A	CCDS9197.1																																																																																				0.458	COX6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108984.3	NM_004373		19	23	0	0	0	1	0	19	23					A	120878307	G	A	120878307	2	1	21	1	0	0	0	0	0	0	0	1	3776	1277	45	3		3	COX6A1	12	120878307	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	688295	120878307	12973588	562	1987										
ATP6V0A2	23545	broad.mit.edu	37	chr12	124228411	124228411	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccccactcggatccgcaccaAcaaattcaccgagggatttc	7	16	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:124228411A>G	ENST00000330342.3	+	10	1366	c.1118A>G	c.(1117-1119)aAc>aGc	p.N373S		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	373					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)		ATCCGCACCAACAAATTCACC	0.453																																						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.(1117-1119)aAc>aGc		ATPase, H+ transporting, lysosomal V0 subunit a2							120	120	120					12																	124228411		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.chr12:124228411A>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.1118A>G	12.37:g.124228411A>G	ENSP00000332247:p.Asn373Ser		Somatic					p.N373S	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)	10	1366	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		373					A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.1118A>G	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.271135	0.59649	.	.	ENSG00000185344	ENST00000330342;ENST00000504192	D;D	0.87491	-2.26;-2.26	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.91975	0.7458	M	0.86864	2.845	0.80722	D	1	P	0.39131	0.661	P	0.48227	0.571	D	0.93125	0.6528	10	0.87932	D	0	-37.8602	15.4018	0.74845	1.0:0.0:0.0:0.0	.	373	Q9Y487	VPP2_HUMAN	S	373;243	ENSP00000332247:N373S;ENSP00000443441:N243S	ENSP00000332247:N373S	N	+	2	0	ATP6V0A2	122794364	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	9.269000	0.95684	2.033000	0.60031	0.459000	0.35465	AAC		0.453	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		14	160	0	0	0	1	0	14	160					G	124228411	A	G	124228411	3	3	21	1	0	0	0	0	1	0	0	0	1169	43	2	4	1156	4	ATP6V0A2	12	124228411	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	3350104	124228411	9623484	563	1988										
DNAH10	196385	broad.mit.edu	37	chr12	124418011	124418011	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctccaccttgttcacacaagTgaccaagttccaggatgcag	8	13	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:124418011T>C	ENST00000409039.3	+	76	13101	c.13076T>C	c.(13075-13077)gTg>gCg	p.V4359A	CCDC92_ENST00000544798.1_Intron|RP11-380L11.3_ENST00000602292.1_RNA|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4359					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)		TTCACACAAGTGACCAAGTTC	0.592																																						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.(13075-13077)gTg>gCg		dynein, axonemal, heavy chain 10							53	55	54					12																	124418011		2004	4159	6163	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124418011T>C	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.13076T>C	12.37:g.124418011T>C	ENSP00000386770:p.Val4359Ala		Somatic				DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	p.V4359A	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)	76	13101	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4359					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.13076T>C	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	32	5.150942	0.94645	.	.	ENSG00000197653	ENST00000409039	T	0.12361	2.69	5.18	5.18	0.71444	Dynein heavy chain (1);	0.000000	0.64402	D	0.000001	T	0.48314	0.1493	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62854	-0.6766	10	0.87932	D	0	.	14.7089	0.69211	0.0:0.0:0.0:1.0	.	4359	Q8IVF4	DYH10_HUMAN	A	4359	ENSP00000386770:V4359A	ENSP00000386770:V4359A	V	+	2	0	DNAH10	122983964	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	7.846000	0.86887	1.955000	0.56771	0.459000	0.35465	GTG		0.592	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			53	52	0	0	0	1	0	53	52					C	124418011	T	C	124418011	3	2	21	1	0	0	0	0	1	0	0	0	4600	1696	59	4	13378	4	DNAH10	12	124418011	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	189600	124418011	9433884	564	1989										
UBC	7316	broad.mit.edu	37	chr12	125397363	125397363	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtcactcggctccacttcgaGagtgatggtcttaccagtca	10	12	3	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:125397363G>A	ENST00000536769.1	-	1	2531	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	UBC_ENST00000546120.1_Missense_Mutation_p.L243F|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000339647.5_Missense_Mutation_p.L319F|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	319	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)		TCCACTTCGAGAGTGATGGTC	0.517																																						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.(955-957)Ctc>Ttc		ubiquitin C							91	77	82					12																	125397363		2202	4282	6484	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.chr12:125397363G>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.955C>T	12.37:g.125397363G>A	ENSP00000441543:p.Leu319Phe		Somatic				UBC_ENST00000339647.5_Missense_Mutation_p.L319F|UBC_ENST00000546120.1_Missense_Mutation_p.L243F|UBC_ENST00000538617.1_Intron	p.L319F			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	2531	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		319			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.955C>T	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318810	0.23994	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.75050	-0.9;-0.9;-0.9	2.94	2.02	0.26589	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.38720	U	0.001586	T	0.82208	0.4987	M	0.73598	2.24	0.58432	D	0.999999	D;D;D	0.63046	0.982;0.992;0.982	D;D;D	0.70935	0.92;0.971;0.92	T	0.81195	-0.1043	10	0.87932	D	0	.	7.9978	0.30277	0.1302:0.0:0.8698:0.0	.	408;319;319	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	F	319;319;243;319;243	ENSP00000441543:L319F;ENSP00000344818:L319F;ENSP00000438394:L243F	ENSP00000344818:L319F	L	-	1	0	UBC	123963316	1.000000	0.71417	0.993000	0.49108	0.070000	0.16714	6.233000	0.72320	0.595000	0.29777	0.549000	0.68633	CTC		0.517	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		70	189	0	0	0	1	0	70	189					A	125397363	G	A	125397363	3	1	21	1	0	0	0	0	1	0	0	0	16857	942	33	3	1106	3	UBC	12	125397363	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	979352	125397363	8454532	565	1990										
RIMBP2	23504	broad.mit.edu	37	chr12	130926863	130926863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggacgttgtagctgctcaccGttccccatcctggtggcacc	11	15	1	0	rs370841973		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:130926863G>A	ENST00000261655.4	-	8	1146	c.983C>T	c.(982-984)aCg>aTg	p.T328M	RIMBP2_ENST00000535703.1_Missense_Mutation_p.T236M|RIMBP2_ENST00000536002.1_Missense_Mutation_p.T236M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	328	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCTGCTCACCGTTCCCCATCC	0.562																																						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.(982-984)aCg>aTg		RIMS binding protein 2			MET/THR	0,4406		0,0,2203	167	156	160		983	4.3	0.1	12		160	1,8599	1.2+/-3.3	0,1,4299	no	missense	RIMBP2	NM_015347.4	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	328/1053	130926863	1,13005	2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130926863G>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.983C>T	12.37:g.130926863G>A	ENSP00000261655:p.Thr328Met		Somatic				RIMBP2_ENST00000536002.1_Missense_Mutation_p.T236M|RIMBP2_ENST00000535703.1_Missense_Mutation_p.T236M	p.T328M	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)	8	1146	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	328			Fibronectin type-III 1.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.983C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	g	14.33	2.503611	0.44558	0.0	1.16E-4	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.54279	0.58;0.58;0.58	4.27	4.27	0.50696	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.263145	0.38436	N	0.001684	T	0.67951	0.2948	M	0.65975	2.015	0.09310	N	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.884;0.996	T	0.59386	-0.7464	10	0.48119	T	0.1	-18.3797	11.892	0.52635	0.0:0.0:0.8255:0.1745	.	236;328	O15034-2;O15034	.;RIMB2_HUMAN	M	328;236;236;236	ENSP00000261655:T328M;ENSP00000440347:T236M;ENSP00000439159:T236M	ENSP00000261655:T328M	T	-	2	0	RIMBP2	129492816	0.975000	0.34042	0.075000	0.20258	0.716000	0.41182	5.691000	0.68249	1.907000	0.55213	0.431000	0.28591	ACG		0.562	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		54	67	0	0	0	1	0	54	67					A	130926863	G	A	130926863	3	1	21	1	0	0	0	0	1	0	0	0	13378	1145	40	1	2223	1	RIMBP2	12	130926863	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	5529500	130926863	2925032	566	1991										
P2RX2	22953	broad.mit.edu	37	chr12	133196264	133196264	+	Splice_Site	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gccccctctttctgagcccaGgggggcagcgtgttcagcat							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:133196264delG	ENST00000389110.3	+	3	346		c.e3-1		P2RX2_ENST00000350048.5_Intron|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000348800.5_Splice_Site|P2RX2_ENST00000343948.4_Splice_Site	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						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)		TCTGAGCCCAGGGGGGCAGCG	0.756																																						ENST00000389110.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20						c.e3-1		purinergic receptor P2X, ligand-gated ion channel, 2							11	14	13					12																	133196264		2176	4268	6444	SO:0001630	splice_region_variant	0				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr12:133196264delG	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.310-1G>-	12.37:g.133196264delG			Somatic				P2RX2_ENST00000348800.5_Splice_Site|P2RX2_ENST00000350048.5_Intron|P2RX2_ENST00000343948.4_Splice_Site|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000449132.2_Intron		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)	3	346	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)						A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Splice_Site	DEL	ENST00000389110.3	37		CCDS31931.1																																																																																				0.756	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1		Intron	25	33						25	33	---	---	---	---	-	133196264	G	-	133196264	8	5	21	1	0	1	0	1	0	0	1	0	11349	1014	35	0	319	0	P2RX2	12	133196264	Splice_Site	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2269401	133196264	655631	567	1992										
SACS	26278	broad.mit.edu	37	chr13	23914022	23914022	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttctgaataaccatggaaatAtgatctgatgtcaactcctc	6	9	3	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:23914022A>G	ENST00000382292.3	-	9	4266	c.3993T>C	c.(3991-3993)caT>caC	p.H1331H	SACS_ENST00000382298.3_Silent_p.H1331H|SACS_ENST00000402364.1_Silent_p.H581H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1331					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)		CCATGGAAATATGATCTGATG	0.338																																						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.(3991-3993)caT>caC		spastic ataxia of Charlevoix-Saguenay (sacsin)							89	82	84					13																	23914022		2203	4300	6503	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914022A>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.3993T>C	13.37:g.23914022A>G			Somatic				SACS_ENST00000382292.3_Silent_p.H1331H|SACS_ENST00000402364.1_Silent_p.H581H	p.H1331H	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	4581	-		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)	1331					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.3993T>C	CCDS9300.2																																																																																				0.338	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		18	19	0	0	0	1	0	18	19					G	23914022	A	G	23914022	2	3	21	1	0	0	0	0	0	0	0	1	13819	446	16	4		4	SACS	13	23914022	Silent	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08		23914022	91255856	568	1993										
SACS	26278	broad.mit.edu	37	chr13	23915781	23915781	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcattacttccttgataagaCgtgcaaatcgttctggattt	7	8	2	2	rs143677534	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:23915781C>T	ENST00000382292.3	-	9	2507	c.2234G>A	c.(2233-2235)cGt>cAt	p.R745H	SACS_ENST00000382298.3_Missense_Mutation_p.R745H|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	745				RPCTQLQLLNPERFARLIKEV -> FLFDEDSNGKLKMVAV LITSC (in Ref. 4; BAC03486). {ECO:0000305}.	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)		CTTGATAAGACGTGCAAATCG	0.368																																						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.(2233-2235)cGt>cAt		spastic ataxia of Charlevoix-Saguenay (sacsin)		C	HIS/ARG	16,4382		0,16,2183	51	51	51		2234	6.1	1	13	dbSNP_134	51	0,8566		0,0,4283	yes	missense	SACS	NM_014363.4	29	0,16,6466	TT,TC,CC		0.0,0.3638,0.1234	probably-damaging	745/4580	23915781	16,12948	2199	4283	6482	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.chr13:23915781C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2234G>A	13.37:g.23915781C>T	ENSP00000371729:p.Arg745His		Somatic				SACS_ENST00000382292.3_Missense_Mutation_p.R745H|SACS_ENST00000402364.1_5'UTR	p.R745H	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	2822	-		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)	745	RPCTQLQLLNPERFARLIKEV -> FLFDEDSNGKLKMVAV LITSC (in Ref. 4; BAC03486).				O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.2234G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790973	0.90367	0.003638	0.0	ENSG00000151835	ENST00000382292;ENST00000382298	T;T	0.18960	2.18;2.18	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.46889	0.1416	M	0.70595	2.14	0.58432	D	0.99999	P;D	0.71674	0.921;0.998	B;P	0.61533	0.271;0.89	T	0.32107	-0.9919	10	0.72032	D	0.01	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	644;745	B2REB1;Q9NZJ4	.;SACS_HUMAN	H	745	ENSP00000371729:R745H;ENSP00000371735:R745H	ENSP00000371729:R745H	R	-	2	0	SACS	22813781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.878000	0.98634	0.650000	0.86243	CGT		0.368	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		20	30	0	0	0	1	0	20	30					T	23915781	C	T	23915781	3	4	21	1	0	0	0	0	1	0	0	0	13819	536	19	1	11509	1	SACS	13	23915781	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1759	23915781	91254097	569	1994										
SPATA13	221178	broad.mit.edu	37	chr13	24860369	24860369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cagctgatcagtgatggcaaCgtggtctgcgcagaagccct	13	11	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:24860369C>T	ENST00000382095.4	+	5	851	c.444C>T	c.(442-444)aaC>aaT	p.N148N	SPATA13_ENST00000343003.6_Silent_p.N92N|SPATA13_ENST00000409126.1_Silent_p.N70N|SPATA13_ENST00000382108.3_Silent_p.N773N|RP11-307N16.6_ENST00000382141.4_Silent_p.N651N|SPATA13_ENST00000399949.2_Silent_p.N70N|SPATA13_ENST00000424834.2_Silent_p.N773N	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	148	ABR (APC-binding region) domain.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GTGATGGCAACGTGGTCTGCG	0.587																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(2317-2319)aaC>aaT		spermatogenesis associated 13							128	118	121					13																	24860369		2203	4300	6503	SO:0001819	synonymous_variant	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24860369C>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.444C>T	13.37:g.24860369C>T			Somatic				SPATA13_ENST00000382095.4_Silent_p.N148N|SPATA13_ENST00000409126.1_Silent_p.N70N|SPATA13_ENST00000399949.2_Silent_p.N70N|SPATA13_ENST00000382108.3_Silent_p.N773N|SPATA13_ENST00000343003.6_Silent_p.N92N	p.N773N			WXS	Illumina GAIIx	Phase_I	Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	8	2792	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	148					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	37	c.2319C>T	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	C	0.656	-0.807490	0.02819	.	.	ENSG00000182957	ENST00000424834	.	.	.	5.25	-8.84	0.00803	.	.	.	.	.	T	0.63010	0.2475	.	.	.	0.39784	D	0.972346	.	.	.	.	.	.	T	0.70702	-0.4799	4	.	.	.	.	17.2468	0.87030	0.0:0.676:0.0:0.324	.	.	.	.	C	811	.	.	R	+	1	0	SPATA13	23758369	0.138000	0.22547	0.890000	0.34922	0.065000	0.16274	-0.394000	0.07296	-1.168000	0.02776	-1.202000	0.01658	CGT		0.587	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		57	81	0	0	0	1	0	57	81					T	24860369	C	T	24860369	2	4	21	1	0	0	0	0	0	0	0	1	15015	535	19	1		1	SPATA13	13	24860369	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	944588	24860369	90309509	570	1995										
ATP8A2	51761	broad.mit.edu	37	chr13	26116151	26116151	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcccaaccgccacctctatgActtcactggaaacttgaact	6	15	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:26116151A>G	ENST00000381655.2	+	9	888	c.746A>G	c.(745-747)gAc>gGc	p.D249G	ATP8A2_ENST00000255283.8_Missense_Mutation_p.D209G	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	209					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|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(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CACCTCTATGACTTCACTGGA	0.393																																						ENST00000381655.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(745-747)gAc>gGc		ATPase, aminophospholipid transporter, class I, type 8A, member 2							97	93	94					13																	26116151		1862	4102	5964	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26116151A>G	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.746A>G	13.37:g.26116151A>G	ENSP00000371070:p.Asp249Gly		Somatic				ATP8A2_ENST00000255283.8_Missense_Mutation_p.D209G	p.D249G	NM_016529.4	NP_057613.4	WXS	Illumina GAIIx	Phase_I	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	9	888	+		Breast(139;0.0201)|Lung SC(185;0.0225)	209					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.746A>G	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797242	0.70567	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.74737	-0.87;-0.87	5.51	5.51	0.81932	ATPase, P-type, ATPase-associated domain (1);	0.088702	0.85682	D	0.000000	T	0.67534	0.2903	L	0.29908	0.895	0.80722	D	1	P;P;P	0.45902	0.741;0.868;0.741	B;B;B	0.43052	0.403;0.406;0.403	T	0.71090	-0.4693	10	0.51188	T	0.08	.	15.9068	0.79436	1.0:0.0:0.0:0.0	.	209;209;209	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	G	249;209;29	ENSP00000371070:D249G;ENSP00000255283:D209G	ENSP00000255283:D209G	D	+	2	0	ATP8A2	25014151	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.339000	0.96797	2.218000	0.71995	0.523000	0.50628	GAC		0.393	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		28	33	0	0	0	1	0	28	33					G	26116151	A	G	26116151	3	3	21	1	0	0	0	0	1	0	0	0	1193	275	10	4	780	4	ATP8A2	13	26116151	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	1255782	26116151	89053727	571	1996										
RXFP2	122042	broad.mit.edu	37	chr13	32351561	32351561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atttcacagcgcttgtttacGggattaaattccttgttttt	7	7	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:32351561G>A	ENST00000298386.2	+	8	761	c.690G>A	c.(688-690)acG>acA	p.T230T	RXFP2_ENST00000380314.1_Silent_p.T230T	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	230					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GCTTGTTTACGGGATTAAATT	0.318																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(688-690)acG>acA		relaxin/insulin-like family peptide receptor 2							126	119	121					13																	32351561		2202	4298	6500	SO:0001819	synonymous_variant	122042					integral to membrane|plasma membrane		g.chr13:32351561G>A	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.690G>A	13.37:g.32351561G>A			Somatic				RXFP2_ENST00000380314.1_Silent_p.T230T	p.T230T	NM_130806.3	NP_570718.1	WXS	Illumina GAIIx	Phase_I	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	8	761	+		Lung SC(185;0.0262)	230					B1ALE9|Q3KU23	Silent	SNP	ENST00000298386.2	37	c.690G>A	CCDS9342.1																																																																																				0.318	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		6	13	0	0	0	1	0	6	13					A	32351561	G	A	32351561	2	1	21	1	0	0	0	0	0	0	0	1	13775	1103	39	1		1	RXFP2	13	32351561	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	6235410	32351561	82818317	572	1997										
NBEA	26960	broad.mit.edu	37	chr13	35624439	35624439	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aaaggagttggttactctgcTcattttgttggcaactgttt	10	6	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:35624439T>A	ENST00000400445.3	+	6	1413	c.879T>A	c.(877-879)gcT>gcA	p.A293A	NBEA_ENST00000540320.1_Silent_p.A293A|NBEA_ENST00000379939.2_Silent_p.A293A|NBEA_ENST00000310336.4_Silent_p.A293A	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	293					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTTACTCTGCTCATTTTGTTG	0.353																																						ENST00000400445.3																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(877-879)gcT>gcA		neurobeachin							73	63	66					13																	35624439		1828	4081	5909	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35624439T>A	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.879T>A	13.37:g.35624439T>A			Somatic				NBEA_ENST00000379939.2_Silent_p.A293A|NBEA_ENST00000310336.4_Silent_p.A293A|NBEA_ENST00000540320.1_Silent_p.A293A	p.A293A	NM_015678.4	NP_056493.3	WXS	Illumina GAIIx	Phase_I	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	6	1413	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	293					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.879T>A	CCDS45026.1																																																																																				0.353	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		8	8	0	0	0	1	0	8	8					A	35624439	T	A	35624439	2	1	21	1	0	0	0	0	0	0	0	1	10196	1538	54	4		4	NBEA	13	35624439	Silent	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	3272878	35624439	79545439	573	1998										
POSTN	10631	broad.mit.edu	37	chr13	38144790	38144790	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccatcaatgattttggtgtaTtttttaataattggctctaa							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:38144790delT	ENST00000379747.4	-	19	2313	c.2196delA	c.(2194-2196)aaafs	p.K732fs	POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000379749.4_Frame_Shift_Del_p.K732fs|POSTN_ENST00000379743.4_Frame_Shift_Del_p.K705fs|POSTN_ENST00000541179.1_Frame_Shift_Del_p.K705fs|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379742.4_Frame_Shift_Del_p.K675fs	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	732					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)		TTTTGGTGTATTTTTTAATAA	0.343																																						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.(2194-2196)aafs		periostin, osteoblast specific factor							185	174	178					13																	38144790		2203	4299	6502	SO:0001589	frameshift_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38144790delT	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.2196delA	13.37:g.38144790delT	ENSP00000369071:p.Lys732fs		Somatic				POSTN_ENST00000379749.4_Frame_Shift_Del_p.K732fs|POSTN_ENST00000379743.4_Frame_Shift_Del_p.K705fs|POSTN_ENST00000379742.4_Frame_Shift_Del_p.K675fs|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000541179.1_Frame_Shift_Del_p.K705fs	p.K732fs	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)	19	2313	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	732					B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Frame_Shift_Del	DEL	ENST00000379747.4	37	c.2196delA	CCDS9364.1																																																																																				0.343	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		32	63						32	63	---	---	---	---	-	38144790	T	-	38144790	7	5	21	1	0	1	0	1	0	0	0	0	12268	1490	52	0	334	0	POSTN	13	38144790	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2520351	38144790	77025088	574	1999										
ZC3H13	23091	broad.mit.edu	37	chr13	46543691	46543691	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atgcttttctttttctgtccTttttttggtgaaaatacttg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:46543691delT	ENST00000242848.4	-	14	3336	c.2988delA	c.(2986-2988)aaafs	p.K996fs	ZC3H13_ENST00000378921.2_5'UTR|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.K996fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	996	Lys-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTTTCTGTCCTTTTTTTGGTG	0.333																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(2986-2988)aafs		zinc finger CCCH-type containing 13							133	133	133					13																	46543691		2203	4300	6503	SO:0001589	frameshift_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46543691delT	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2988delA	13.37:g.46543691delT	ENSP00000242848:p.Lys996fs		Somatic				ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.K996fs|ZC3H13_ENST00000378921.2_5'UTR	p.K996fs			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	3336	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	996			Lys-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	ENST00000242848.4	37	c.2988delA																																																																																					0.333	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		8	73						8	73	---	---	---	---	-	46543691	T	-	46543691	7	5	21	1	0	1	0	1	0	0	0	0	17580	1606	56	0	1722	0	ZC3H13	13	46543691	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	8398901	46543691	68626187	575	2000										
DHRS12	79758	broad.mit.edu	37	chr13	52365373	52365373	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgcttgggatcagacaagtcCacaatgtgcagaaaaatgtt	10	7	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:52365373C>A	ENST00000444610.2	-	4	307	c.294G>T	c.(292-294)gtG>gtT	p.V98V	DHRS12_ENST00000218981.1_Silent_p.V49V|DHRS12_ENST00000280056.2_Silent_p.V49V|DHRS12_ENST00000490949.1_5'UTR	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	98							oxidoreductase activity (GO:0016491)			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		CAGACAAGTCCACAATGTGCA	0.299																																						ENST00000218981.1																			0				cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7						c.(145-147)gtG>gtT		dehydrogenase/reductase (SDR family) member 12							67	65	66					13																	52365373		2203	4300	6503	SO:0001819	synonymous_variant	79758						binding|oxidoreductase activity	g.chr13:52365373C>A	AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	25832	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 40C, member 1"					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.294G>T	13.37:g.52365373C>A			Somatic				DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000280056.2_Silent_p.V49V|DHRS12_ENST00000444610.2_Silent_p.V98V	p.V49V	NM_024705.2	NP_078981.1	WXS	Illumina GAIIx	Phase_I	A0PJE2	DHR12_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	3	258	-		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)	98					Q96GB2|Q9H8H1	Silent	SNP	ENST00000444610.2	37	c.147G>T	CCDS58292.1																																																																																				0.299	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045036.3	NM_024705		8	22	1	0	0.0477658	1	0.0479846	8	22					A	52365373	C	A	52365373	2	1	21	1	0	0	0	0	0	0	0	1	4490	581	21	5		5	DHRS12	13	52365373	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	5821682	52365373	62804505	576	2001										
NEK5	341676	broad.mit.edu	37	chr13	52676360	52676360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggagctcacgagaaaacccCggagatattggggcaaaatg	13	8	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:52676360C>T	ENST00000355568.4	-	10	817	c.678G>A	c.(676-678)ccG>ccA	p.P226P		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	226	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)		GAGAAAACCCCGGAGATATTG	0.423																																						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.(676-678)ccG>ccA		NIMA-related kinase 5							149	170	163					13																	52676360		2203	4300	6503	SO:0001819	synonymous_variant	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52676360C>T	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.678G>A	13.37:g.52676360C>T			Somatic					p.P226P	NM_199289.1	NP_954983.1	WXS	Illumina GAIIx	Phase_I	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	10	817	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	226			Protein kinase.		Q5TAP5	Silent	SNP	ENST00000355568.4	37	c.678G>A	CCDS31979.1																																																																																				0.423	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		112	151	0	0	0	1	0	112	151					T	52676360	C	T	52676360	2	4	21	1	0	0	0	0	0	0	0	1	10336	639	23	1		1	NEK5	13	52676360	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	310987	52676360	62493518	577	2002										
MYCBP2	23077	broad.mit.edu	37	chr13	77844149	77844149	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gagcataccctaaccaagacTttttttcttttctgtttcta							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:77844149delT	ENST00000544440.2	-	7	1141	c.1124delA	c.(1123-1125)aagfs	p.K375fs	MYCBP2_ENST00000357337.6_Frame_Shift_Del_p.K375fs|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Frame_Shift_Del_p.K413fs					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAACCAAGACTTTTTTTCTTT	0.289																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(1237-1239)agfs		MYC binding protein 2, E3 ubiquitin protein ligase							108	121	117					13																	77844149		2203	4295	6498	SO:0001589	frameshift_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77844149delT	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.1124delA	13.37:g.77844149delT	ENSP00000444596:p.Lys375fs		Somatic				MYCBP2_ENST00000544440.2_Frame_Shift_Del_p.K375fs|MYCBP2_ENST00000357337.6_Frame_Shift_Del_p.K375fs|MYCBP2_ENST00000360084.5_5'UTR	p.K413fs	NM_015057.4	NP_055872.4	WXS	Illumina GAIIx	Phase_I	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	7	1504	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	375						Frame_Shift_Del	DEL	ENST00000544440.2	37	c.1238delA																																																																																					0.289	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		60	99						60	99	---	---	---	---	-	77844149	T	-	77844149	7	5	21	1	0	1	0	1	0	0	0	0	10027	1609	56	0	13106	0	MYCBP2	13	77844149	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	25167789	77844149	37325729	578	2003										
COL4A2	1284	broad.mit.edu	37	chr13	111117897	111117897	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccctggagacgccggcttacCtggaccaccaggcttcctgg	12	16	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:111117897C>A	ENST00000360467.5	+	25	2228	c.1922C>A	c.(1921-1923)cCt>cAt	p.P641H	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	641	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)			GCCGGCTTACCTGGACCACCA	0.597																																						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.(1921-1923)cCt>cAt		collagen, type IV, alpha 2							32	37	35					13																	111117897		1866	4090	5956	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111117897C>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.1922C>A	13.37:g.111117897C>A	ENSP00000353654:p.Pro641His		Somatic					p.P641H	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)		25	2228	+	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)	641			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.1922C>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	5.747	0.322188	0.10900	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.96168	-3.93	4.82	1.79	0.24919	.	1.130710	0.06788	N	0.786527	D	0.93664	0.7976	M	0.66939	2.045	0.09310	N	1	P	0.39964	0.697	B	0.41691	0.364	D	0.86619	0.1878	10	0.66056	D	0.02	.	2.4361	0.04483	0.2871:0.2975:0.3203:0.0952	.	641	P08572	CO4A2_HUMAN	H	641	ENSP00000353654:P641H	ENSP00000257309:P641H	P	+	2	0	COL4A2	109915898	0.000000	0.05858	0.130000	0.21974	0.355000	0.29361	0.544000	0.23253	1.023000	0.39654	0.462000	0.41574	CCT		0.597	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		35	32	1	0	1.06647e-15	1	1.15184e-15	35	32					A	111117897	C	A	111117897	3	1	21	1	0	0	0	0	1	0	0	0	3692	681	24	5	2016	5	COL4A2	13	111117897	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	33273748	111117897	4051981	579	2004										
MCF2L	23263	broad.mit.edu	37	chr13	113729502	113729502	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gctgcaccgccgcctggagaCggtaggccgagccggacccc	15	17	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:113729502C>T	ENST00000375608.3	+	12	1455	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M	MCF2L_ENST00000375601.3_Splice_Site_p.T440M|MCF2L_ENST00000535094.2_Splice_Site_p.T436M|MCF2L_ENST00000375597.4_Splice_Site_p.T434M|MCF2L_ENST00000421756.1_Splice_Site_p.T440M|MCF2L_ENST00000397030.1_Splice_Site_p.T469M|MCF2L_ENST00000375604.2_Splice_Site_p.T493M|MCF2L_ENST00000442652.2_Splice_Site_p.T466M|MCF2L_ENST00000423482.2_Splice_Site_p.T434M|MCF2L_ENST00000434480.2_Splice_Site_p.T442M			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	466					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)				CGCCTGGAGACGGTAGGCCGA	0.687																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.e11+1		MCF.2 cell line derived transforming sequence-like							16	19	18					13																	113729502		2200	4297	6497	SO:0001630	splice_region_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.chr13:113729502C>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.1398+1C>T	13.37:g.113729502C>T			Somatic				MCF2L_ENST00000434480.2_Splice_Site_p.T442_splice|MCF2L_ENST00000442652.2_Splice_Site_p.T466_splice|MCF2L_ENST00000375597.4_Splice_Site_p.T434_splice|MCF2L_ENST00000421756.1_Splice_Site_p.T440_splice|MCF2L_ENST00000375608.3_Splice_Site_p.T466_splice|MCF2L_ENST00000375604.2_Splice_Site_p.T493_splice|MCF2L_ENST00000535094.2_Splice_Site_p.T436_splice|MCF2L_ENST00000375601.3_Splice_Site_p.T440_splice|MCF2L_ENST00000423482.2_Splice_Site_p.T434_splice	p.T469_splice			WXS	Illumina GAIIx	Phase_I	O15068	MCF2L_HUMAN			11	1443	+	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)	466					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Splice_Site	SNP	ENST00000375608.3	37	c.1407_splice		.	.	.	.	.	.	.	.	.	.	C	12.59	1.982394	0.34942	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	T;T;T;T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96	5.05	1.88	0.25563	.	0.288004	0.36815	N	0.002394	T	0.11239	0.0274	N	0.16478	0.41	0.42671	D	0.993518	B;B;B;B;B;B	0.23377	0.03;0.012;0.03;0.084;0.003;0.017	B;B;B;B;B;B	0.16722	0.01;0.01;0.016;0.007;0.01;0.007	T	0.10520	-1.0626	10	0.54805	T	0.06	.	6.8862	0.24202	0.5873:0.3167:0.0:0.0961	.	434;436;493;398;434;466	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	M	466;466;493;469;436;440;440;442;434;434;277	ENSP00000364758:T466M;ENSP00000401422:T466M;ENSP00000364754:T493M;ENSP00000380225:T469M;ENSP00000440374:T436M;ENSP00000397285:T440M;ENSP00000364751:T440M;ENSP00000407722:T442M;ENSP00000405639:T434M;ENSP00000364747:T434M	ENSP00000364747:T434M	T	+	2	0	MCF2L	112777503	1.000000	0.71417	0.996000	0.52242	0.691000	0.40173	1.997000	0.40786	0.493000	0.27837	0.555000	0.69702	ACG		0.687	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4		Missense_Mutation	11	14	0	0	0	1	0	11	14					T	113729502	C	T	113729502	5	4	21	1	0	0	0	0	0	0	1	0	9388	550	19	1	1615	1	MCF2L	13	113729502	Splice_Site	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2611605	113729502	1440376	580	2005										
OR4K13	390433	broad.mit.edu	37	chr14	20502375	20502375	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcaagtttaatcacaaggggAaggtcacagaaaaagctgtc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:20502375delA	ENST00000315693.2	-	1	544	c.543delT	c.(541-543)cttfs	p.L181fs	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCACAAGGGGAAGGTCACAGA	0.483																																						ENST00000315693.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24						c.(541-543)ctfs		olfactory receptor, family 4, subfamily K, member 13							132	124	127					14																	20502375		2203	4300	6503	SO:0001589	frameshift_variant	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502375delA		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"GPCR / Class A : Olfactory receptors"	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.543delT	14.37:g.20502375delA	ENSP00000319322:p.Leu181fs		Somatic					p.L181fs	NM_001004714.1	NP_001004714.1	WXS	Illumina GAIIx	Phase_I	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	544	-	all_cancers(95;0.00108)		181					Q6IF13	Frame_Shift_Del	DEL	ENST00000315693.2	37	c.543delT	CCDS32028.1																																																																																				0.483	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			29	71						29	71	---	---	---	---	-	20502375	A	-	20502375	7	5	21	1	0	1	0	1	0	0	0	0	11077	233	9	0	373	0	OR4K13	14	20502375	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08		20502375	86847165	581	2006										
OR4K13	390433	broad.mit.edu	37	chr14	20502395	20502395	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aaggtcacagaaaaagctgtCtataacattgggaccacaga	9	8	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:20502395C>A	ENST00000315693.2	-	1	524	c.523G>T	c.(523-525)Gac>Tac	p.D175Y	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAAAAGCTGTCTATAACATTG	0.473																																						ENST00000315693.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24						c.(523-525)Gac>Tac		olfactory receptor, family 4, subfamily K, member 13							138	130	133					14																	20502395		2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502395C>A		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"GPCR / Class A : Olfactory receptors"	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.523G>T	14.37:g.20502395C>A	ENSP00000319322:p.Asp175Tyr		Somatic					p.D175Y	NM_001004714.1	NP_001004714.1	WXS	Illumina GAIIx	Phase_I	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	524	-	all_cancers(95;0.00108)		175					Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.523G>T	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	7.726	0.698283	0.15106	.	.	ENSG00000176253	ENST00000315693	T	0.00193	8.58	3.61	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41194	U	0.000924	T	0.00468	0.0015	M	0.88570	2.965	0.09310	N	1	D	0.55172	0.97	P	0.60541	0.876	T	0.34775	-0.9815	10	0.87932	D	0	.	6.024	0.19644	0.0:0.6942:0.197:0.1087	.	175	Q8NH42	OR4KD_HUMAN	Y	175	ENSP00000319322:D175Y	ENSP00000319322:D175Y	D	-	1	0	OR4K13	19572235	0.000000	0.05858	0.297000	0.24988	0.056000	0.15407	-0.938000	0.03938	0.703000	0.31848	0.514000	0.50259	GAC		0.473	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			38	58	1	0	1.30998e-17	1	1.42185e-17	38	58					A	20502395	C	A	20502395	3	1	21	1	0	0	0	0	1	0	0	0	11077	913	32	2	393	2	OR4K13	14	20502395	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	20	20502395	86847145	582	2007										
MYH7	4625	broad.mit.edu	37	chr14	23887559	23887559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcctcctcgtactgctcccgCagcaggtcgcagtcatgccg	10	17	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:23887559C>T	ENST00000355349.3	-	30	4191	c.4029G>A	c.(4027-4029)ctG>ctA	p.L1343L	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1343					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)		ACTGCTCCCGCAGCAGGTCGC	0.657																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4027-4029)ctG>ctA		myosin, heavy chain 7, cardiac muscle, beta							48	45	46					14																	23887559		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.chr14:23887559C>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.4029G>A	14.37:g.23887559C>T			Somatic					p.L1343L	NM_000257.2	NP_000248.2	WXS	Illumina GAIIx	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4191	-	all_cancers(95;2.54e-05)		1343					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4029G>A	CCDS9601.1																																																																																				0.657	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		40	60	0	0	0	1	0	40	60					T	23887559	C	T	23887559	2	4	21	1	0	0	0	0	0	0	0	1	10048	697	25	3		3	MYH7	14	23887559	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3385164	23887559	83461981	583	2008										
AP1G2	8906	broad.mit.edu	37	chr14	24033540	24033540	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggtagacagttgggactattAcctaatgttcctgtcactgt	10	8	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:24033540A>G	ENST00000308724.5	-	9	1733		c.e9+1		RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Splice_Site|AP1G2_ENST00000556277.1_5'Flank	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit						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)		TGGGACTATTACCTAATGTTC	0.512																																						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.e9+1		adaptor-related protein complex 1, gamma 2 subunit							147	116	127					14																	24033540		2203	4300	6503	SO:0001630	splice_region_variant	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24033540A>G	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.977+1T>C	14.37:g.24033540A>G			Somatic				AP1G2_ENST00000397120.3_Splice_Site|RP11-66N24.3_ENST00000555968.1_RNA		NM_003917.2	NP_003908.1	WXS	Illumina GAIIx	Phase_I	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	9	1733	-	all_cancers(95;0.000251)							D3DS51|O75504	Splice_Site	SNP	ENST00000308724.5	37		CCDS9602.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447324	0.63178	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7655	0.51928	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AP1G2	23103380	1.000000	0.71417	0.998000	0.56505	0.830000	0.47004	7.795000	0.85887	1.872000	0.54250	0.455000	0.32223	.		0.512	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917	Intron	30	42	0	0	0	1	0	30	42					G	24033540	A	G	24033540	5	3	21	1	0	0	0	0	0	0	1	0	733	405	14	4	1430	4	AP1G2	14	24033540	Splice_Site	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	145981	24033540	83316000	584	2009										
RABGGTA	5875	broad.mit.edu	37	chr14	24734837	24734837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cctcttaggtgaggacgctgCtaactgaaggcagcagttca	12	10	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:24734837C>T	ENST00000399409.3	-	16	2171	c.1688G>A	c.(1687-1689)aGc>aAc	p.S563N	TGM1_ENST00000206765.6_5'Flank|TGM1_ENST00000544573.1_5'Flank|RABGGTA_ENST00000216840.6_Missense_Mutation_p.S563N|RABGGTA_ENST00000560777.1_Missense_Mutation_p.S172N	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	563					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)		GAGGACGCTGCTAACTGAAGG	0.582																																						ENST00000399409.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12						c.(1687-1689)aGc>aAc		Rab geranylgeranyltransferase, alpha subunit							39	42	41					14																	24734837		2022	4177	6199	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24734837C>T		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"Prenyltransferase alpha subunit repeat containing"	9795	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 3"	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.1688G>A	14.37:g.24734837C>T	ENSP00000382341:p.Ser563Asn		Somatic				RABGGTA_ENST00000560777.1_Missense_Mutation_p.S172N|RABGGTA_ENST00000216840.6_Missense_Mutation_p.S563N	p.S563N	NM_004581.5	NP_004572.3	WXS	Illumina GAIIx	Phase_I	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	16	2171	-			563					A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.1688G>A	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	C	0.585	-0.835252	0.02713	.	.	ENSG00000100949	ENST00000216840;ENST00000399409	T;T	0.48522	0.81;0.81	5.67	-2.72	0.05968	.	0.728833	0.14087	N	0.342322	T	0.16727	0.0402	N	0.04768	-0.165	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16748	-1.0392	10	0.15499	T	0.54	-2.142	1.717	0.02904	0.125:0.2312:0.2013:0.4425	.	563	Q92696	PGTA_HUMAN	N	563	ENSP00000216840:S563N;ENSP00000382341:S563N	ENSP00000216840:S563N	S	-	2	0	RABGGTA	23804677	0.003000	0.15002	0.334000	0.25495	0.034000	0.12701	0.015000	0.13355	-0.156000	0.11079	-0.369000	0.07265	AGC		0.582	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		26	19	0	0	0	1	0	26	19					T	24734837	C	T	24734837	3	4	21	1	0	0	0	0	1	0	0	0	12982	797	28	3	19	3	RABGGTA	14	24734837	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	701297	24734837	82614703	585	2010										
NYNRIN	57523	broad.mit.edu	37	chr14	24884026	24884026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgaccttgactcttcgctggCgtcagtgttcagggtggagt	14	10	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:24884026C>T	ENST00000382554.3	+	9	3389	c.3071C>T	c.(3070-3072)gCg>gTg	p.A1024V		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1024					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						TCTTCGCTGGCGTCAGTGTTC	0.627																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(3070-3072)gCg>gTg		NYN domain and retroviral integrase containing							99	130	119					14																	24884026		2195	4284	6479	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884026C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3071C>T	14.37:g.24884026C>T	ENSP00000371994:p.Ala1024Val		Somatic					p.A1024V	NM_025081.2	NP_079357.2	WXS	Illumina GAIIx	Phase_I	Q9P2P1	NYNRI_HUMAN			9	3389	+			1024					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.3071C>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148615	0.37923	.	.	ENSG00000205978	ENST00000382554	T	0.09445	2.98	4.36	-1.35	0.09114	.	.	.	.	.	T	0.04952	0.0133	N	0.16478	0.41	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43782	-0.9370	9	0.21014	T	0.42	.	2.6926	0.05125	0.3438:0.3207:0.0:0.3355	.	1024	Q9P2P1	NYNRI_HUMAN	V	1024	ENSP00000371994:A1024V	ENSP00000371994:A1024V	A	+	2	0	NYNRIN	23953866	0.067000	0.21026	0.000000	0.03702	0.276000	0.26787	0.350000	0.20079	-0.531000	0.06340	0.313000	0.20887	GCG		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			28	30	0	0	0	1	0	28	30					T	24884026	C	T	24884026	3	4	21	1	0	0	0	0	1	0	0	0	10805	768	27	1	3101	1	NYNRIN	14	24884026	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	149189	24884026	82465514	586	2011										
FOXG1	2290	broad.mit.edu	37	chr14	29237048	29237048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gccgccgttcagctacaacgCgctcatcatgatggccatcc	9	16	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:29237048C>T	ENST00000313071.4	+	1	762	c.563C>T	c.(562-564)gCg>gTg	p.A188V	RP11-966I7.1_ENST00000546560.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.A188V|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	188					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)		AGCTACAACGCGCTCATCATG	0.612																																						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.(562-564)gCg>gTg		forkhead box G1							38	39	39					14																	29237048		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237048C>T		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.563C>T	14.37:g.29237048C>T	ENSP00000339004:p.Ala188Val		Somatic				FOXG1_ENST00000313071.4_Missense_Mutation_p.A188V	p.A188V			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	932	+			188					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.563C>T	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658865	0.88154	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.95482	-3.72;-3.72	3.09	3.09	0.35607	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.96670	0.8913	L	0.59967	1.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96926	0.9677	10	0.87932	D	0	.	13.7386	0.62833	0.0:1.0:0.0:0.0	.	188	P55316	FOXG1_HUMAN	V	188	ENSP00000371975:A188V;ENSP00000339004:A188V	ENSP00000339004:A188V	A	+	2	0	FOXG1	28306799	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.534000	0.82004	1.265000	0.44215	0.298000	0.19748	GCG		0.612	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			16	29	0	0	0	1	0	16	29					T	29237048	C	T	29237048	3	4	21	1	0	0	0	0	1	0	0	0	6015	768	27	1	565	1	FOXG1	14	29237048	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	4353022	29237048	78112492	587	2012										
NKX2-1	7080	broad.mit.edu	37	chr14	36987157	36987157	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggccatgttcttgctcacgtCccccagcgagcccaggccgc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:36987157delC	ENST00000518149.1	-	3	1047	c.442delG	c.(442-444)gacfs	p.D148fs	NKX2-1_ENST00000498187.2_Frame_Shift_Del_p.D148fs|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000522719.2_Frame_Shift_Del_p.D148fs|NKX2-1_ENST00000354822.5_Frame_Shift_Del_p.D178fs|RP11-896J10.3_ENST00000521945.1_RNA			P43699	NKX21_HUMAN	NK2 homeobox 1	148					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|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 migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|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)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|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)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TTGCTCACGTCCCCCAGCGAG	0.687			A		NSCLC																																	ENST00000518149.1				Dom	yes		14	14q13	7080	A	NK2 homeobox 1			E			NSCLC		0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7						c.(442-444)acfs		NK2 homeobox 1							18	20	20					14																	36987157		2199	4295	6494	SO:0001589	frameshift_variant	7080				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding	g.chr14:36987157delC		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"Homeoboxes / ANTP class : NKL subclass"	11825	protein-coding gene	gene with protein product		600635	"benign chorea", "thyroid transcription factor 1"	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.442delG	14.37:g.36987157delC	ENSP00000428341:p.Asp148fs		Somatic				RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Frame_Shift_Del_p.D148fs|NKX2-1_ENST00000354822.5_Frame_Shift_Del_p.D178fs|NKX2-1_ENST00000522719.2_Frame_Shift_Del_p.D148fs	p.D148fs			WXS	Illumina GAIIx	Phase_I	P43699	NKX21_HUMAN	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	3	1047	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		148					D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Frame_Shift_Del	DEL	ENST00000518149.1	37	c.442delG	CCDS9659.1																																																																																				0.687	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	NM_003317		13	26						13	26	---	---	---	---	-	36987157	C	-	36987157	7	5	21	1	0	1	0	1	0	0	0	0	10458	855	30	0	677	0	NKX2-1	14	36987157	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	7750109	36987157	70362383	588	2013										
HIF1A	3091	broad.mit.edu	37	chr14	62207260	62207260	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atattgtttttatgtggataGtgatatggtcaatgaattca	9	2	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:62207260G>T	ENST00000337138.4	+	11	1839	c.1574G>T	c.(1573-1575)aGt>aTt	p.S525I	RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000394997.1_Missense_Mutation_p.S526I|HIF1A_ENST00000539097.1_Missense_Mutation_p.S549I|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.S525I|HIF1A_ENST00000557538.1_Missense_Mutation_p.S466I	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	525	ODD.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TATGTGGATAGTGATATGGTC	0.328																																						ENST00000394997.1																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23						c.(1576-1578)aGt>aTt		hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)							102	104	103					14																	62207260		2203	4299	6502	SO:0001583	missense	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62207260G>T	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.1574G>T	14.37:g.62207260G>T	ENSP00000338018:p.Ser525Ile		Somatic				HIF1A_ENST00000539097.1_Missense_Mutation_p.S549I|HIF1A_ENST00000337138.4_Missense_Mutation_p.S525I|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.S525I|HIF1A_ENST00000557538.1_Missense_Mutation_p.S466I|HIF1A-AS2_ENST00000554254.1_lincRNA	p.S526I			WXS	Illumina GAIIx	Phase_I	Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	11	1842	+			525			ODD.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	37	c.1577G>T	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808947	0.50421	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.55930	0.6;0.6;0.49;0.59;0.6	6.16	5.18	0.71444	.	0.483231	0.26349	N	0.024886	T	0.42494	0.1205	L	0.41824	1.3	0.41646	D	0.989109	B;B;B	0.19073	0.033;0.033;0.033	B;B;B	0.24394	0.053;0.022;0.022	T	0.41197	-0.9522	10	0.62326	D	0.03	.	7.5321	0.27689	0.1734:0.0:0.8266:0.0	.	526;525;525	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	I	276;466;525;526;525;466;549	ENSP00000338018:S525I;ENSP00000378446:S526I;ENSP00000323326:S525I;ENSP00000451696:S466I;ENSP00000437955:S549I	ENSP00000323326:S525I	S	+	2	0	HIF1A	61277013	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.315000	0.59172	2.937000	0.99478	0.650000	0.86243	AGT		0.328	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		28	31	1	0	5.61819e-17	1	6.0754e-17	28	31					T	62207260	G	T	62207260	3	4	21	1	0	0	0	0	1	0	0	0	7112	1029	36	5	1616	5	HIF1A	14	62207260	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	25220103	62207260	45142280	589	2014										
SNAPC1	6617	broad.mit.edu	37	chr14	62242911	62242911	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctcagcttgataaaggatgaTttttttgacaatattaagaa							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:62242911delT	ENST00000216294.4	+	5	737	c.633delT	c.(631-633)gatfs	p.D211fs	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	211	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)	p.D214fs*1(2)		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)		TAAAGGATGATTTTTTTGACA	0.358																																					NSCLC(27;223 907 37180 39193 46568)	ENST00000216294.4																			2	Insertion - Frameshift(2)	p.D214fs*1(2)	large_intestine(1)|ovary(1)	endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13						c.(631-633)gafs		small nuclear RNA activating complex, polypeptide 1, 43kDa							114	108	110					14																	62242911		2203	4300	6503	SO:0001589	frameshift_variant	6617				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr14:62242911delT	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.633delT	14.37:g.62242911delT	ENSP00000216294:p.Asp211fs		Somatic				RP11-618G20.1_ENST00000555937.1_RNA	p.D211fs	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)	5	737	+			211			SNAPC4-binding.			Frame_Shift_Del	DEL	ENST00000216294.4	37	c.633delT	CCDS9755.1																																																																																				0.358	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082		19	32						19	32	---	---	---	---	-	62242911	T	-	62242911	7	5	21	1	0	1	0	1	0	0	0	0	14849	1490	52	0	651	0	SNAPC1	14	62242911	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	35651	62242911	45106629	590	2015										
ZFYVE26	23503	broad.mit.edu	37	chr14	68215288	68215288	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggacaagggctgtggcccgTgagtgttcttgcttcacagc	14	10	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:68215288T>C	ENST00000347230.4	-	42	7623	c.7485A>G	c.(7483-7485)tcA>tcG	p.S2495S	RN7SL213P_ENST00000463482.2_RNA	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2495					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)		CTGTGGCCCGTGAGTGTTCTT	0.562																																						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.(7483-7485)tcA>tcG		zinc finger, FYVE domain containing 26							75	64	68					14																	68215288		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.chr14:68215288T>C	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.7485A>G	14.37:g.68215288T>C			Somatic					p.S2495S	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)	42	7623	-			2495					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.7485A>G	CCDS9788.1																																																																																				0.562	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		36	54	0	0	0	1	0	36	54					C	68215288	T	C	68215288	2	2	21	1	0	0	0	0	0	0	0	1	17683	1683	59	4		4	ZFYVE26	14	68215288	Silent	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	5972377	68215288	39134252	591	2016										
SLC39A9	55334	broad.mit.edu	37	chr14	69925096	69925096	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acagagcagtaaagaagcccTttcagaggtgaacgccacgg	12	10	1	4			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:69925096T>A	ENST00000336643.5	+	7	1388	c.710T>A	c.(709-711)cTt>cAt	p.L237H	SLC39A9_ENST00000556605.1_Intron|SLC39A9_ENST00000557046.1_Missense_Mutation_p.L214H|SLC39A9_ENST00000031146.4_Missense_Mutation_p.L171H|SLC39A9_ENST00000555245.1_3'UTR	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	237					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		AAAGAAGCCCTTTCAGAGGTG	0.468																																						ENST00000031146.4																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(511-513)cTt>cAt		solute carrier family 39, member 9							98	108	105					14																	69925096		2203	4300	6503	SO:0001583	missense	55334				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr14:69925096T>A		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"Solute carriers"	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.710T>A	14.37:g.69925096T>A	ENSP00000336887:p.Leu237His		Somatic				SLC39A9_ENST00000556605.1_Intron|SLC39A9_ENST00000336643.5_Missense_Mutation_p.L237H|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000557046.1_Missense_Mutation_p.L214H	p.L171H			WXS	Illumina GAIIx	Phase_I	Q9NUM3	S39A9_HUMAN		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	6	1190	+			237					G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	37	c.512T>A	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.568829	0.65765	.	.	ENSG00000029364	ENST00000336643;ENST00000557046	T;T	0.49432	0.78;0.78	5.29	5.29	0.74685	.	0.122813	0.56097	D	0.000029	T	0.44973	0.1319	L	0.52126	1.63	0.80722	D	1	B;B	0.17268	0.013;0.021	B;B	0.28305	0.088;0.031	T	0.32955	-0.9887	10	0.19147	T	0.46	-10.2688	15.2262	0.73354	0.0:0.0:0.0:1.0	.	214;237	Q9NUM3-2;Q9NUM3	.;S39A9_HUMAN	H	237;214	ENSP00000336887:L237H;ENSP00000451833:L214H	ENSP00000031146:L237H	L	+	2	0	SLC39A9	68994849	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.142000	0.71750	1.996000	0.58369	0.528000	0.53228	CTT		0.468	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		90	87	0	0	0	1	0	90	87					A	69925096	T	A	69925096	3	1	21	1	0	0	0	0	1	0	0	0	14640	1609	56	4	736	4	SLC39A9	14	69925096	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1709808	69925096	37424444	592	2017										
SFRS5	6430	broad.mit.edu	37	chr14	70235387	70235387	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atggaaaagaactctgtagtGaaaggtgagattcctgtgta	12	4	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:70235387G>A	ENST00000553521.1	+	4	1646	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	SRSF5_ENST00000553635.1_Missense_Mutation_p.E62K|SRSF5_ENST00000554021.1_Missense_Mutation_p.E65K|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000451983.2_Missense_Mutation_p.E65K|SRSF5_ENST00000555349.1_Missense_Mutation_p.E65K|SRSF5_ENST00000553548.1_Missense_Mutation_p.E65K|SRSF5_ENST00000557154.1_Missense_Mutation_p.E65K|SRSF5_ENST00000394366.2_Missense_Mutation_p.E65K			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	65	RRM 1. {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 splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						ACTCTGTAGTGAAAGGTGAGA	0.398																																						ENST00000553521.1																			0				large_intestine(1)|liver(1)	2						c.(193-195)Gaa>Aaa		serine/arginine-rich splicing factor 5							219	210	213					14																	70235387		2203	4300	6503	SO:0001583	missense	6430				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr14:70235387G>A	AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10787	protein-coding gene	gene with protein product	"SR splicing factor 5"	600914	"splicing factor, arginine/serine-rich 5"	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.193G>A	14.37:g.70235387G>A	ENSP00000452123:p.Glu65Lys		Somatic				SRSF5_ENST00000555349.1_Missense_Mutation_p.E65K|SRSF5_ENST00000554021.1_Missense_Mutation_p.E65K|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000553548.1_Missense_Mutation_p.E65K|SRSF5_ENST00000557154.1_Missense_Mutation_p.E65K|SRSF5_ENST00000394366.2_Missense_Mutation_p.E65K|SRSF5_ENST00000553635.1_Missense_Mutation_p.E62K|SRSF5_ENST00000451983.2_Missense_Mutation_p.E65K	p.E65K			WXS	Illumina GAIIx	Phase_I	Q13243	SRSF5_HUMAN			4	1646	+			65			RRM 1.		O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	ENST00000553521.1	37	c.193G>A	CCDS32109.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204866	0.79127	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000553548;ENST00000553369;ENST00000557154;ENST00000451983;ENST00000553635;ENST00000555349;ENST00000554021	T;T;T;T;T;T;T;T;T	0.72051	2.54;2.54;-0.62;-0.62;2.54;-0.62;2.54;-0.62;-0.62	5.95	5.05	0.67936	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.67477	0.2897	N	0.02368	-0.58	0.80722	D	1	P;P;D	0.76494	0.941;0.887;0.999	P;P;D	0.83275	0.889;0.733;0.996	T	0.79424	-0.1809	10	0.66056	D	0.02	.	17.059	0.86542	0.0:0.127:0.873:0.0	.	62;65;65	Q13243-3;Q6FGE0;Q13243	.;.;SRSF5_HUMAN	K	65;65;65;65;65;65;62;65;65	ENSP00000452123:E65K;ENSP00000377892:E65K;ENSP00000452400:E65K;ENSP00000452449:E65K;ENSP00000451088:E65K;ENSP00000402734:E65K;ENSP00000451391:E62K;ENSP00000452090:E65K;ENSP00000450918:E65K	ENSP00000377892:E65K	E	+	1	0	SRSF5	69305140	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	1.486000	0.48398	0.655000	0.94253	GAA		0.398	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412456.1	NM_001039465		62	82	0	0	0	1	0	62	82					A	70235387	G	A	70235387	3	1	21	1	0	0	0	0	1	0	0	0	14195	1291	45	3	199	3	SFRS5	14	70235387	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	310291	70235387	37114153	593	2018										
SIPA1L1	26037	broad.mit.edu	37	chr14	72054754	72054755	+	Frame_Shift_Ins	INS	-	-	C													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cagttatggctcctgtaggaINScccccccgaagtgaaggttc					rs12884638	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:72054754_72054755insC	ENST00000555818.1	+	2	513_514	c.165_166insC	c.(166-168)cccfs	p.P56fs	SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.P56fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.P56fs	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	56			P -> T (in dbSNP:rs12884638).		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)		CTCCTGTAGGACCCCCCCGAAG	0.535																																						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.(163-168)ggccccfs		signal-induced proliferation-associated 1 like 1																																				SO:0001589	frameshift_variant	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.chr14:72054754_72054755insC	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.172dupC	14.37:g.72054761_72054761dupC	ENSP00000450832:p.Pro56fs		Somatic				SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.GP55fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.GP55fs	p.GP55fs	NM_015556.1	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	513_514	+			55					J3KP19|O95321|Q9UDU4|Q9UNU4	Frame_Shift_Ins	INS	ENST00000555818.1	37	c.165_166insC	CCDS9807.1																																																																																				0.535	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		56	90						56	90	---	---	---	---	C	72054755	-	C	72054754	7	5	21	1	0	1	1	0	0	0	0	0	14344	262	10	0	167	0	SIPA1L1	14	72054754	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	1819367	72054754	35294786	594	2019										
RBM25	58517	broad.mit.edu	37	chr14	73577560	73577560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggaacaagaggctgagaggCgcaggcagccacaaataaag	14	8	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:73577560C>T	ENST00000261973.7	+	15	1999	c.1714C>T	c.(1714-1716)Cgc>Tgc	p.R572C	RBM25_ENST00000527432.1_Missense_Mutation_p.R572C|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	572	Glu-rich.|Necessary for nuclear speckle localization.			RRRQ -> EAQE (in Ref. 8; AAC41999). {ECO:0000305}.	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)		GGCTGAGAGGCGCAGGCAGCC	0.388																																						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.(1714-1716)Cgc>Tgc		RNA binding motif protein 25							30	31	31					14																	73577560		2203	4300	6503	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.chr14:73577560C>T	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.1714C>T	14.37:g.73577560C>T	ENSP00000261973:p.Arg572Cys		Somatic				RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.R572C	p.R572C	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)	15	1999	+			572	RRRQ -> EAQE (in Ref. 8; AAC41999).		Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	c.1714C>T	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.505900	0.64410	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.13778	2.56;2.56	5.44	5.44	0.79542	.	0.050467	0.85682	D	0.000000	T	0.15435	0.0372	L	0.44542	1.39	0.80722	D	1	D	0.63880	0.993	B	0.41135	0.348	T	0.01720	-1.1288	10	0.38643	T	0.18	.	19.2568	0.93949	0.0:1.0:0.0:0.0	.	572	P49756	RBM25_HUMAN	C	572	ENSP00000261973:R572C;ENSP00000431150:R572C	ENSP00000261973:R572C	R	+	1	0	RBM25	72647313	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.612000	0.67681	2.554000	0.86153	0.467000	0.42956	CGC		0.388	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		7	18	0	0	0	1	0	7	18					T	73577560	C	T	73577560	3	4	21	1	0	0	0	0	1	0	0	0	13140	768	27	1	1768	1	RBM25	14	73577560	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1522806	73577560	33771980	595	2020										
PSEN1	5663	broad.mit.edu	37	chr14	73637521	73637521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atagaatgacaatagagaacGgcaggagcacaacgacagac	11	8	0	4	rs63750592	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:73637521G>A	ENST00000324501.5	+	4	376	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	PSEN1_ENST00000357710.4_Missense_Mutation_p.R31Q|PSEN1_ENST00000557511.1_Missense_Mutation_p.R35Q|PSEN1_ENST00000553447.2_3'UTR|PSEN1_ENST00000394164.1_Missense_Mutation_p.R31Q|PSEN1_ENST00000261970.3_Missense_Mutation_p.R35Q|PSEN1_ENST00000344094.3_Missense_Mutation_p.R35Q|PSEN1_ENST00000406768.1_5'UTR|PSEN1_ENST00000394157.3_Missense_Mutation_p.R35Q	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	35					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		AATAGAGAACGGCAGGAGCAC	0.478																																						ENST00000324501.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18	GRCh37	CM004059	PSEN1	M	rs63750592	c.(103-105)cGg>cAg		presenilin 1		G	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	44	46	45	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	104,92	3.1	0.9	14	dbSNP_130	45	3,8597	3.7+/-12.6	0,3,4297	yes	missense,missense	PSEN1	NM_000021.3,NM_007318.2	43,43	0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384	benign,benign	35/468,31/464	73637521	5,13001	2203	4300	6503	SO:0001583	missense	5663				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|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|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	g.chr14:73637521G>A	AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"Alzheimer disease 3"	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.104G>A	14.37:g.73637521G>A	ENSP00000326366:p.Arg35Gln		Somatic				PSEN1_ENST00000394164.1_Missense_Mutation_p.R31Q|PSEN1_ENST00000406768.1_5'UTR|PSEN1_ENST00000557511.1_Missense_Mutation_p.R35Q|PSEN1_ENST00000344094.3_Missense_Mutation_p.R35Q|PSEN1_ENST00000261970.3_Missense_Mutation_p.R35Q|PSEN1_ENST00000394157.3_Missense_Mutation_p.R35Q|PSEN1_ENST00000357710.4_Missense_Mutation_p.R31Q|PSEN1_ENST00000553447.2_3'UTR	p.R35Q	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	WXS	Illumina GAIIx	Phase_I	P49768	PSN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)	4	376	+			35					B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	ENST00000324501.5	37	c.104G>A	CCDS9812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.524|8.524	0.869398|0.869398	0.17322|0.17322	4.54E-4|4.54E-4	3.49E-4|3.49E-4	ENSG00000080815|ENSG00000080815	ENST00000553447|ENST00000557356;ENST00000556864;ENST00000556533;ENST00000556951;ENST00000557293;ENST00000553719;ENST00000553599;ENST00000394157;ENST00000324501;ENST00000357710;ENST00000555254;ENST00000261970;ENST00000344094;ENST00000554131;ENST00000557037;ENST00000394164;ENST00000556066;ENST00000557511	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.99591	.|-5.36;-3.23;-3.06;-3.38;-5.69;-3.23;-6.24;-6.05;-6.04;-5.8;-6.04;-5.82;-3.78;-6.04;-6.04	4.91|4.91	3.09|3.09	0.35607|0.35607	.|.	.|0.280726	.|0.32444	.|N	.|0.006082	D|D	0.96558|0.96558	0.8877|0.8877	N|N	0.08118|0.08118	0|0	0.37907|0.37907	D|D	0.93122|0.93122	.|B;B;B	.|0.18166	.|0.026;0.0;0.024	.|B;B;B	.|0.12837	.|0.003;0.0;0.008	D|D	0.94911|0.94911	0.8065|0.8065	5|10	.|0.13108	.|T	.|0.6	-4.115|-4.115	9.1901|9.1901	0.37193|0.37193	0.1657:0.0:0.8343:0.0|0.1657:0.0:0.8343:0.0	rs63750592|rs63750592	.|31;35;35	.|P49768-2;P49768;P49768-4	.|.;PSN1_HUMAN;.	S|Q	74|31;31;31;31;35;31;31;35;35;31;35;35;35;35;31;31;31;35	.|ENSP00000451498:R31Q;ENSP00000452128:R31Q;ENSP00000450551:R31Q;ENSP00000451880:R35Q;ENSP00000451674:R31Q;ENSP00000452477:R31Q;ENSP00000377712:R35Q;ENSP00000326366:R35Q;ENSP00000350342:R31Q;ENSP00000450652:R35Q;ENSP00000261970:R35Q;ENSP00000339523:R35Q;ENSP00000451915:R35Q;ENSP00000377719:R31Q;ENSP00000451429:R35Q	.|ENSP00000261970:R35Q	G|R	+|+	1|2	0|0	PSEN1|PSEN1	72707274|72707274	1.000000|1.000000	0.71417|0.71417	0.891000|0.891000	0.34965|0.34965	0.551000|0.551000	0.35334|0.35334	3.740000|3.740000	0.55082|0.55082	0.664000|0.664000	0.31047|0.31047	-0.253000|-0.253000	0.11424|0.11424	GGC|CGG		0.478	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2			8	25	0	0	0	1	0	8	25					A	73637521	G	A	73637521	3	1	21	1	0	0	0	0	1	0	0	0	12662	1116	39	1	110	1	PSEN1	14	73637521	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	59961	73637521	33712019	596	2021										
C14orf43	91748	broad.mit.edu	37	chr14	74205773	74205773	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tctgggttcatatctgggttGggggggaaggggtagggtgc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:74205773delG	ENST00000286523.5	-	2	1721	c.939delC	c.(937-939)cccfs	p.P313fs	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_Frame_Shift_Del_p.P313fs	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	313	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TATCTGGGTTGGGGGGGAAGG	0.662																																						ENST00000286523.5																			0											c.(937-939)ccfs		ELM2 and Myb/SANT-like domain containing 1							21	22	22					14																	74205773		2203	4299	6502	SO:0001589	frameshift_variant	91748							g.chr14:74205773delG	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.939delC	14.37:g.74205773delG	ENSP00000286523:p.Pro313fs		Somatic				ELMSAN1_ENST00000394071.2_Frame_Shift_Del_p.P313fs	p.P313fs	NM_194278.3	NP_919254.2	WXS	Illumina GAIIx	Phase_I					2	1721	-								Q6PK13|Q6PK59|Q6ZS23	Frame_Shift_Del	DEL	ENST00000286523.5	37	c.939delC	CCDS9819.1																																																																																				0.662	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		16	20						16	20	---	---	---	---	-	74205773	G	-	74205773	7	5	21	1	0	1	0	1	0	0	0	0	1776	1335	47	0	2242	0	C14orf43	14	74205773	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	568252	74205773	33143767	597	2022										
YLPM1	56252	broad.mit.edu	37	chr14	75248388	75248388	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cattgccaccaccagtgatgCcccctgccctccctgctaca					rs201292705		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:75248388delC	ENST00000552421.1	+	4	1766	c.1642delC	c.(1642-1644)cccfs	p.P549fs	YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000325680.7_Frame_Shift_Del_p.P549fs			P49750	YLPM1_HUMAN	YLP motif containing 1	0					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)		ACCAGTGATGCCCCCTGCCCT	0.577																																						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.(1642-1644)ccfs		YLP motif containing 1							221	227	225					14																	75248388		2113	4205	6318	SO:0001589	frameshift_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75248388delC	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.1642delC	14.37:g.75248388delC	ENSP00000447921:p.Pro549fs		Somatic				YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Frame_Shift_Del_p.P549fs	p.P549fs	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)	4	1766	+			356					P49752|Q96I64|Q9P1V7	Frame_Shift_Del	DEL	ENST00000552421.1	37	c.1642delC																																																																																					0.577	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		26	357						26	357	---	---	---	---	-	75248388	C	-	75248388	7	5	21	1	0	1	0	1	0	0	0	0	17501	739	26	0	1656	0	YLPM1	14	75248388	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1042615	75248388	32101152	598	2023										
RPS6KL1	83694	broad.mit.edu	37	chr14	75388084	75388084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gggccagccggatctgcgtgGccgcatccaccagatagtca	13	14	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:75388084G>A	ENST00000555647.1	-	3	448	c.161C>T	c.(160-162)gCc>gTc	p.A54V	RPS6KL1_ENST00000554900.1_Intron|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.A54V|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.A54V|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.A54V			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	54						ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GATCTGCGTGGCCGCATCCAC	0.592																																						ENST00000555647.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(160-162)gCc>gTc		ribosomal protein S6 kinase-like 1							132	113	120					14																	75388084		2203	4300	6503	SO:0001583	missense	83694					ribosome	ATP binding|protein serine/threonine kinase activity	g.chr14:75388084G>A	BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.161C>T	14.37:g.75388084G>A	ENSP00000452027:p.Ala54Val		Somatic				RPS6KL1_ENST00000557413.1_Missense_Mutation_p.A54V|RPS6KL1_ENST00000554900.1_Intron|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.A54V|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.A54V	p.A54V			WXS	Illumina GAIIx	Phase_I	Q9Y6S9	RPKL1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00658)	3	448	-			54					A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	ENST00000555647.1	37	c.161C>T	CCDS9834.2	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904267	0.92035	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	4.16	4.16	0.48862	MIT (2);	0.000000	0.85682	D	0.000000	T	0.76076	0.3937	L	0.49126	1.545	0.80722	D	1	D;D;D	0.89917	1.0;0.988;1.0	D;D;D	0.85130	0.997;0.956;0.984	T	0.78620	-0.2133	10	0.87932	D	0	-16.0605	12.6923	0.56982	0.0:0.0:0.8347:0.1653	.	54;54;54	Q9Y6S9;Q9Y6S9-4;Q9Y6S9-2	RPKL1_HUMAN;.;.	V	54	ENSP00000452027:A54V;ENSP00000346644:A54V;ENSP00000450567:A54V;ENSP00000351086:A54V	ENSP00000346644:A54V	A	-	2	0	RPS6KL1	74457837	1.000000	0.71417	0.867000	0.34043	0.973000	0.67179	9.358000	0.97109	2.046000	0.60703	0.561000	0.74099	GCC		0.592	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413732.1			36	65	0	0	0	1	0	36	65					A	75388084	G	A	75388084	3	1	21	1	0	0	0	0	1	0	0	0	13674	1203	42	3	1504	3	RPS6KL1	14	75388084	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	139696	75388084	31961456	599	2024										
VIPAR	63894	broad.mit.edu	37	chr14	77920439	77920439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctcctcatcaccctttgtccGattcatctacagtgacagga	6	14	4	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:77920439G>A	ENST00000553888.1	-	2	517	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	VIPAS39_ENST00000448935.2_Missense_Mutation_p.R3W|VIPAS39_ENST00000556412.1_Missense_Mutation_p.R29W|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R3W|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R3W|VIPAS39_ENST00000557658.1_Missense_Mutation_p.R3W	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	3					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)											CCCTTTGTCCGATTCATCTAC	0.453																																						ENST00000553888.1																			0											c.(7-9)Cgg>Tgg		VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog							140	112	122					14																	77920439		2203	4300	6503	SO:0001583	missense	63894							g.chr14:77920439G>A	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"VPS33B interacting protein, apical-basolateral polarity regulator"	613401	"chromosome 14 open reading frame 133"	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.7C>T	14.37:g.77920439G>A	ENSP00000452181:p.Arg3Trp		Somatic				VIPAS39_ENST00000557658.1_Missense_Mutation_p.R3W|VIPAS39_ENST00000556412.1_Missense_Mutation_p.R29W|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R3W|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R3W|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R3W	p.R3W	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	WXS	Illumina GAIIx	Phase_I					2	517	-								B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.7C>T	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929860	0.73327	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412;ENST00000557466	T;T;T;T;T;T;T	0.80994	-1.27;-1.27;-1.24;-1.27;-1.33;-1.32;-1.44	5.21	4.29	0.51040	.	0.125513	0.51477	D	0.000089	D	0.82328	0.5013	L	0.40543	1.245	0.39592	D	0.969604	D;D	0.89917	0.999;1.0	P;P	0.60415	0.849;0.874	D	0.84444	0.0584	10	0.87932	D	0	-14.9193	11.2212	0.48855	0.0:0.0:0.5311:0.4689	.	3;3	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	W	3;3;3;3;3;29;3	ENSP00000339122:R3W;ENSP00000452181:R3W;ENSP00000313098:R3W;ENSP00000452191:R3W;ENSP00000404815:R3W;ENSP00000451857:R29W;ENSP00000452176:R3W	ENSP00000313098:R3W	R	-	1	2	VIPAR	76990192	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.413000	0.34725	1.357000	0.45904	0.655000	0.94253	CGG		0.453	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		29	28	0	0	0	1	0	29	28					A	77920439	G	A	77920439	3	1	21	1	0	0	0	0	1	0	0	0	17183	1057	37	1	1550	1	VIPAR	14	77920439	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2532355	77920439	29429101	600	2025										
CPSF2	53981	broad.mit.edu	37	chr14	92604647	92604647	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cacagattcattcaatgctaCatatgtacagcctagaagaa	6	9	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:92604647C>T	ENST00000298875.4	+	7	902	c.617C>T	c.(616-618)aCa>aTa	p.T206I		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	206					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)			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)		TTCAATGCTACATATGTACAG	0.333																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.(616-618)aCa>aTa		cleavage and polyadenylation specific factor 2, 100kDa							103	106	105					14																	92604647		2203	4300	6503	SO:0001583	missense	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.chr14:92604647C>T	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.617C>T	14.37:g.92604647C>T	ENSP00000298875:p.Thr206Ile		Somatic					p.T206I	NM_017437.2	NP_059133.1	WXS	Illumina GAIIx	Phase_I	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	7	902	+		all_cancers(154;0.0766)	206					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.617C>T	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495653	0.64186	.	.	ENSG00000165934	ENST00000298875	T	0.48522	0.81	5.74	5.74	0.90152	Beta-lactamase-like (1);	0.047580	0.85682	D	0.000000	T	0.46927	0.1418	L	0.48642	1.525	0.80722	D	1	B	0.14438	0.01	B	0.23275	0.045	T	0.27606	-1.0069	10	0.33940	T	0.23	.	19.9248	0.97099	0.0:1.0:0.0:0.0	.	206	Q9P2I0	CPSF2_HUMAN	I	206	ENSP00000298875:T206I	ENSP00000298875:T206I	T	+	2	0	CPSF2	91674400	1.000000	0.71417	0.980000	0.43619	0.980000	0.70556	5.897000	0.69831	2.683000	0.91414	0.655000	0.94253	ACA		0.333	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			4	63	0	0	0	1	0	4	63					T	92604647	C	T	92604647	3	4	21	1	0	0	0	0	1	0	0	0	3827	478	17	3	635	3	CPSF2	14	92604647	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	14684208	92604647	14744893	601	2026										
BEGAIN	57596	broad.mit.edu	37	chr14	101004877	101004877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cggggagccgggcggtccccGgcttggcccgcaggctccac	17	17	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:101004877G>A	ENST00000355173.2	-	7	1282	c.1211C>T	c.(1210-1212)cCg>cTg	p.P404L	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000443071.2_Missense_Mutation_p.P404L|BEGAIN_ENST00000556751.1_Missense_Mutation_p.P340L	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	404						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GGCGGTCCCCGGCTTGGCCCG	0.726																																					NSCLC(159;1889 2010 9965 27479 40101)	ENST00000556751.1																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(1018-1020)cCg>cTg		brain-enriched guanylate kinase-associated							5	7	6					14																	101004877		2065	4088	6153	SO:0001583	missense	57596					cytoplasm|membrane	protein binding	g.chr14:101004877G>A	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.1211C>T	14.37:g.101004877G>A	ENSP00000347301:p.Pro404Leu		Somatic				BEGAIN_ENST00000443071.2_Missense_Mutation_p.P404L|BEGAIN_ENST00000355173.2_Missense_Mutation_p.P404L	p.P340L			WXS	Illumina GAIIx	Phase_I	Q9BUH8	BEGIN_HUMAN			5	4423	-		Melanoma(154;0.212)	404					Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	c.1019C>T	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	G	8.239	0.806353	0.16467	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071	.	.	.	4.5	3.53	0.40419	.	0.325165	0.32372	N	0.006186	T	0.30510	0.0767	L	0.36672	1.1	0.40463	D	0.980262	P	0.47106	0.89	B	0.31337	0.128	T	0.31081	-0.9956	9	0.45353	T	0.12	.	11.7486	0.51835	0.0:0.4214:0.5786:0.0	.	404	Q9BUH8	BEGIN_HUMAN	L	404;340;404	.	ENSP00000347301:P404L	P	-	2	0	BEGAIN	100074630	0.925000	0.31364	0.893000	0.35052	0.045000	0.14185	1.981000	0.40628	2.053000	0.61076	0.455000	0.32223	CCG		0.726	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		9	8	0	0	0	1	0	9	8					A	101004877	G	A	101004877	3	1	21	1	0	0	0	0	1	0	0	0	1397	1116	39	1	574	1	BEGAIN	14	101004877	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	8400230	101004877	6344663	602	2027										
DYNC1H1	1778	broad.mit.edu	37	chr14	102506038	102506038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acattacctttgccatgctgCtggcaagaatcaaactgaag	8	10	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:102506038C>T	ENST00000360184.4	+	62	11823	c.11659C>T	c.(11659-11661)Ctg>Ttg	p.L3887L	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3887					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						TGCCATGCTGCTGGCAAGAAT	0.537																																						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.(11659-11661)Ctg>Ttg		dynein, cytoplasmic 1, heavy chain 1							120	111	114					14																	102506038		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.chr14:102506038C>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.11659C>T	14.37:g.102506038C>T			Somatic				RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	p.L3887L	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			62	11823	+			3887					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.11659C>T	CCDS9966.1																																																																																				0.537	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		62	67	0	0	0	1	0	62	67					T	102506038	C	T	102506038	2	4	21	1	0	0	0	0	0	0	0	1	4843	796	28	3		3	DYNC1H1	14	102506038	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1501161	102506038	4843502	603	2028										
CDC42BPB	9578	broad.mit.edu	37	chr14	103447224	103447224	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttttcccaatttagaccttcAaaaaacgcatgctttttgaa							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:103447224delA	ENST00000361246.2	-	8	1314	c.1026delT	c.(1024-1026)tttfs	p.F342fs		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.E343fs*1(1)		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)		TTAGACCTTCAAAAAACGCAT	0.458																																						ENST00000361246.2																			1	Insertion - Frameshift(1)	p.E343fs*1(1)	large_intestine(1)	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.(1024-1026)ttfs		CDC42 binding protein kinase beta (DMPK-like)							112	105	107					14																	103447224		2203	4300	6503	SO:0001589	frameshift_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.chr14:103447224delA	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.1026delT	14.37:g.103447224delA	ENSP00000355237:p.Phe342fs		Somatic					p.F342fs	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)	8	1314	-		Melanoma(154;0.155)	342			Protein kinase.			Frame_Shift_Del	DEL	ENST00000361246.2	37	c.1026delT	CCDS9978.1																																																																																				0.458	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		45	78						45	78	---	---	---	---	-	103447224	A	-	103447224	7	5	21	1	0	1	0	1	0	0	0	0	3075	127	5	0	4229	0	CDC42BPB	14	103447224	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	941186	103447224	3902316	604	2029										
CDC42BPB	9578	broad.mit.edu	37	chr14	103465909	103465909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agaagccggttacctgtgcaCgtaatgaagctgatggatgg	14	7	0	3	rs147856179		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:103465909C>T	ENST00000361246.2	-	5	877	c.589G>A	c.(589-591)Gtg>Atg	p.V197M		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)		TACCTGTGCACGTAATGAAGC	0.463													C|||	1	0.000199681	0	0	5008	,	,		20030	0		0.001	False		,,,				2504	0					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.(589-591)Gtg>Atg		CDC42 binding protein kinase beta (DMPK-like)							123	113	116					14																	103465909		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.chr14:103465909C>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.589G>A	14.37:g.103465909C>T	ENSP00000355237:p.Val197Met		Somatic					p.V197M	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)	5	877	-		Melanoma(154;0.155)	197			Protein kinase.			Missense_Mutation	SNP	ENST00000361246.2	37	c.589G>A	CCDS9978.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.70	3.876263	0.72180	.	.	ENSG00000198752	ENST00000361246	T	0.49720	0.77	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061993	0.64402	D	0.000004	T	0.69106	0.3074	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73142	-0.4076	10	0.87932	D	0	.	18.5862	0.91189	0.0:1.0:0.0:0.0	.	197	Q9Y5S2	MRCKB_HUMAN	M	197	ENSP00000355237:V197M	ENSP00000355237:V197M	V	-	1	0	CDC42BPB	102535662	1.000000	0.71417	0.994000	0.49952	0.871000	0.50021	4.816000	0.62642	2.465000	0.83290	0.655000	0.94253	GTG		0.463	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		41	78	0	0	0	1	0	41	78					T	103465909	C	T	103465909	3	4	21	1	0	0	0	0	1	0	0	0	3075	536	19	1	4678	1	CDC42BPB	14	103465909	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	18685	103465909	3883631	605	2030										
C14orf73	91828	broad.mit.edu	37	chr14	103573972	103573973	+	Frame_Shift_Del	DEL	CT	CT	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	accctgggccgcccaggagaCtctgcaggaggtgcaccggt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:103573972_103573973delCT	ENST00000380069.3	+	9	1782_1783	c.1706_1707delCT	c.(1705-1707)actfs	p.T569fs		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	569					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GCCCAGGAGACTCTGCAGGAGG	0.703																																						ENST00000380069.3																			0				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						c.(1705-1707)afs		exocyst complex component 3-like 4																																				SO:0001589	frameshift_variant	91828							g.chr14:103573972_103573973delCT	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.1706_1707delCT	14.37:g.103573974_103573975delCT	ENSP00000369409:p.Thr569fs		Somatic					p.T569fs	NM_001077594.1	NP_001071062.1	WXS	Illumina GAIIx	Phase_I	Q17RC7	EX3L4_HUMAN			9	1782_1783	+			569					Q14CR2	Frame_Shift_Del	DEL	ENST00000380069.3	37	c.1706_1707delCT	CCDS32163.1																																																																																				0.703	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		8	14						8	14	---	---	---	---	-	103573973	CT	-	103573972	7	5	21	1	0	1	0	1	0	0	0	0	1781	565	20	0	1740	0	C14orf73	14	103573972	Frame_Shift_Del	DEL	CT	TCGA-N7-A4Y0-01A-12D-A28R-08	108063	103573972	3775568	606	2031										
GPR132	29933	broad.mit.edu	37	chr14	105518408	105518408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gagaggcccagggaggcccaCggggcagtggtggtcactgg	20	10	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:105518408C>T	ENST00000329797.3	-	4	977	c.66G>A	c.(64-66)ccG>ccA	p.P22P	GPR132_ENST00000392585.2_Silent_p.P13P|GPR132_ENST00000539291.2_Silent_p.P22P|GPR132_ENST00000546679.1_5'UTR	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	22					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)		GGGAGGCCCACGGGGCAGTGG	0.622																																						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.(64-66)ccG>ccA		G protein-coupled receptor 132							56	63	61					14																	105518408		2203	4300	6503	SO:0001819	synonymous_variant	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518408C>T	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.66G>A	14.37:g.105518408C>T			Somatic				GPR132_ENST00000392585.2_Silent_p.P13P|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Silent_p.P22P	p.P22P	NM_013345.2	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	977	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	22					A8K7X7|B4E144|Q9BSU2	Silent	SNP	ENST00000329797.3	37	c.66G>A	CCDS9997.1																																																																																				0.622	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		65	70	0	0	0	1	0	65	70					T	105518408	C	T	105518408	2	4	21	1	0	0	0	0	0	0	0	1	6650	523	19	1		1	GPR132	14	105518408	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1944436	105518408	1831132	607	2032										
NUDT14	256281	broad.mit.edu	37	chr14	105643364	105643364	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttgaataagagaacggtcacGctgtgtacggggggaggggc	18	6	1	2	rs370941955		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:105643364G>A	ENST00000392568.2	-	3	219	c.126C>T	c.(124-126)agC>agT	p.S42S	RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	42	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GAACGGTCACGCTGTGTACGG	0.632										HNSCC(42;0.11)																												ENST00000392568.2																			0				cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14						c.e3-1		nudix (nucleoside diphosphate linked moiety X)-type motif 14		G		1,4387		0,1,2193	39	33	35		126	-2	1	14		35	0,8582		0,0,4291	no	coding-synonymous-near-splice	NUDT14	NM_177533.3		0,1,6484	AA,AG,GG		0.0,0.0228,0.0077		42/223	105643364	1,12969	2194	4291	6485	SO:0001630	splice_region_variant	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105643364G>A	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"Nudix motif containing"	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.126-1C>T	14.37:g.105643364G>A		HNSCC(42;0.11)	Somatic				RP11-44N21.4_ENST00000548203.1_RNA	p.S42_splice	NM_177533.4	NP_803877.2	WXS	Illumina GAIIx	Phase_I	O95848	NUD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	3	219	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	42			Nudix hydrolase.		Q86SJ8	Splice_Site	SNP	ENST00000392568.2	37	c.125_splice	CCDS10000.1																																																																																				0.632	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	NM_177533	Silent	16	18	0	0	0	1	0	16	18					A	105643364	G	A	105643364	5	1	21	1	0	0	0	0	0	0	1	0	10739	1101	38	1	554	1	NUDT14	14	105643364	Splice_Site	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	124956	105643364	1706176	608	2033										
MAGEL2	54551	broad.mit.edu	37	chr15	23889906	23889906	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccggagagacacttgcgaccTcagacacaactacgggcaga	11	13	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:23889906T>C	ENST00000532292.1	-	1	1269	c.1175A>G	c.(1174-1176)gAg>gGg	p.E392G		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	275	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				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)		ACTTGCGACCTCAGACACAAC	0.622																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1174-1176)gAg>gGg		MAGE-like 2							39	40	40					15																	23889906		1947	4149	6096	SO:0001583	missense	54551							g.chr15:23889906T>C	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.1175A>G	15.37:g.23889906T>C	ENSP00000433433:p.Glu392Gly		Somatic					p.E392G	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	1269	-		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.1175A>G		.	.	.	.	.	.	.	.	.	.	T	5.199	0.222166	0.09863	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.76	3.76	0.43208	.	.	.	.	.	T	0.44498	0.1296	L	0.53249	1.67	0.09310	N	0.999998	.	.	.	.	.	.	T	0.29119	-1.0022	5	.	.	.	.	9.1829	0.37152	0.0:0.0:0.0:1.0	.	.	.	.	G	424	.	.	R	-	1	2	MAGEL2	21440999	0.432000	0.25554	0.194000	0.23346	0.030000	0.12068	1.314000	0.33597	1.934000	0.56057	0.533000	0.62120	AGG		0.622	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		24	20	0	0	0	1	0	24	20					C	23889906	T	C	23889906	3	2	21	1	0	0	0	0	1	0	0	0	9198	1551	54	4	769	4	MAGEL2	15	23889906	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08		23889906	78641486	609	2034										
HERC2	8924	broad.mit.edu	37	chr15	28387443	28387443	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aagggccacagcaacacgggAggccatgcagtacctccgga	13	13	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:28387443A>G	ENST00000261609.7	-	76	11749	c.11641T>C	c.(11641-11643)Tcc>Ccc	p.S3881P		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)		GCAACACGGGAGGCCATGCAG	0.527																																						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.(11641-11643)Tcc>Ccc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							66	60	62					15																	28387443		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.chr15:28387443A>G	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.11641T>C	15.37:g.28387443A>G	ENSP00000261609:p.Ser3881Pro		Somatic					p.S3881P	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	11749	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3881						Missense_Mutation	SNP	ENST00000261609.7	37	c.11641T>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740053	0.89573	.	.	ENSG00000128731	ENST00000261609	T	0.39592	1.07	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.47192	0.1432	L	0.46157	1.445	0.80722	D	1	D	0.61697	0.99	P	0.49799	0.622	T	0.41645	-0.9497	10	0.44086	T	0.13	.	16.1087	0.81244	1.0:0.0:0.0:0.0	.	3881	O95714	HERC2_HUMAN	P	3881	ENSP00000261609:S3881P	ENSP00000261609:S3881P	S	-	1	0	HERC2	26061038	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.944000	0.92980	2.204000	0.70986	0.528000	0.53228	TCC		0.527	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		19	28	0	0	0	1	0	19	28					G	28387443	A	G	28387443	3	3	21	1	0	0	0	0	1	0	0	0	7067	304	11	4	2935	4	HERC2	15	28387443	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	4497537	28387443	74143949	610	2035										
ARHGAP11A	9824	broad.mit.edu	37	chr15	32916446	32916446	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttgcgggacttcttaagcagTtttttagggaactgccagag							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:32916446delT	ENST00000361627.3	+	4	1092	c.370delT	c.(370-372)tttfs	p.F125fs	ARHGAP11A_ENST00000565905.1_5'UTR|ARHGAP11A_ENST00000567348.1_Frame_Shift_Del_p.F125fs|ARHGAP11A_ENST00000563864.1_Frame_Shift_Del_p.F125fs|ARHGAP11A_ENST00000543522.1_5'UTR	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	125	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)			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)		TCTTAAGCAGTTTTTTAGGGA	0.398																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(370-372)ttfs		Rho GTPase activating protein 11A							27	28	28					15																	32916446		2199	4275	6474	SO:0001589	frameshift_variant	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32916446delT	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.370delT	15.37:g.32916446delT	ENSP00000355090:p.Phe125fs		Somatic				ARHGAP11A_ENST00000565905.1_5'UTR|ARHGAP11A_ENST00000543522.1_5'UTR|ARHGAP11A_ENST00000567348.1_Frame_Shift_Del_p.F125fs|ARHGAP11A_ENST00000563864.1_Frame_Shift_Del_p.F125fs	p.F125fs	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)	4	1092	+		all_lung(180;1.3e-11)	125			Rho-GAP.		B4DZN9|Q6PI96|Q9Y3S6	Frame_Shift_Del	DEL	ENST00000361627.3	37	c.370delT	CCDS10028.1																																																																																				0.398	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		22	19						22	19	---	---	---	---	-	32916446	T	-	32916446	7	5	21	1	0	1	0	1	0	0	0	0	863	1725	60	0	384	0	ARHGAP11A	15	32916446	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	4529003	32916446	69614946	611	2036										
C15orf24	56851	broad.mit.edu	37	chr15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agctctggacatcccccgatAgcagcagcagcagcaggacg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 24"	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del		Somatic				EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1	WXS	Illumina GAIIx	Phase_I					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		9	294						9	294	---	---	---	---	-	34393993	AGC	-	34393991	7	5	21	1	0	1	0	1	0	0	0	0	1788	420	15	0	698	0	C15orf24	15	34393991	In_Frame_Del	DEL	AGC	TCGA-N7-A4Y0-01A-12D-A28R-08	1477545	34393991	68137401	612	2037										
SLC12A6	9990	broad.mit.edu	37	chr15	34546772	34546772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atcactgtgaaagatggcagCtcgggggacgatatagacct	13	8	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:34546772C>A	ENST00000354181.3	-	9	1387	c.895G>T	c.(895-897)Gct>Tct	p.A299S	SLC12A6_ENST00000558589.1_Missense_Mutation_p.A290S|SLC12A6_ENST00000558667.1_Missense_Mutation_p.A299S|SLC12A6_ENST00000458406.2_Missense_Mutation_p.A240S|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000397707.2_Missense_Mutation_p.A284S|SLC12A6_ENST00000397702.2_Missense_Mutation_p.A240S|SLC12A6_ENST00000560611.1_Missense_Mutation_p.A299S|SLC12A6_ENST00000290209.5_Missense_Mutation_p.A248S|SLC12A6_ENST00000560164.1_Missense_Mutation_p.A111S|SLC12A6_ENST00000451844.2_Missense_Mutation_p.A111S			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	299					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)	AAGATGGCAGCTCGGGGGACG	0.388																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(895-897)Gct>Tct		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						88	84	85					15																	34546772		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34546772C>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.895G>T	15.37:g.34546772C>A	ENSP00000346112:p.Ala299Ser		Somatic				SLC12A6_ENST00000451844.2_Missense_Mutation_p.A111S|SLC12A6_ENST00000560164.1_Missense_Mutation_p.A111S|SLC12A6_ENST00000558589.1_Missense_Mutation_p.A290S|SLC12A6_ENST00000290209.5_Missense_Mutation_p.A248S|SLC12A6_ENST00000397707.2_Missense_Mutation_p.A284S|SLC12A6_ENST00000458406.2_Missense_Mutation_p.A240S|SLC12A6_ENST00000560611.1_Missense_Mutation_p.A299S|SLC12A6_ENST00000397702.2_Missense_Mutation_p.A240S|SLC12A6_ENST00000558667.1_Missense_Mutation_p.A299S	p.A299S			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)	9	1387	-		all_lung(180;2.78e-08)	299					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.895G>T	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901852	0.72754	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18;-5.18	4.99	4.99	0.66335	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98579	0.9525	M	0.76838	2.35	0.80722	D	1	B;P;P;B	0.51653	0.149;0.947;0.738;0.18	B;P;P;P	0.51806	0.13;0.68;0.491;0.489	D	0.99560	1.0968	10	0.66056	D	0.02	.	17.2164	0.86945	0.0:1.0:0.0:0.0	.	284;299;248;111	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	S	248;284;290;240;240;111	ENSP00000290209:A248S;ENSP00000380819:A284S;ENSP00000380814:A240S;ENSP00000387725:A240S;ENSP00000390199:A111S	ENSP00000290209:A248S	A	-	1	0	SLC12A6	32334064	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.798000	0.62510	2.577000	0.86979	0.655000	0.94253	GCT		0.388	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		31	52	1	0	1.06801e-11	1	1.13671e-11	31	52					A	34546772	C	A	34546772	3	1	21	1	0	0	0	0	1	0	0	0	14402	797	28	5	2629	5	SLC12A6	15	34546772	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	152781	34546772	67984620	613	2038										
ZNF770	54989	broad.mit.edu	37	chr15	35273866	35273866	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agacagggttgcccggtgctAccaggaataaaatcctgtga	12	9	0	2	rs151315389	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:35273866A>G	ENST00000356321.4	-	3	2114	c.1770T>C	c.(1768-1770)ggT>ggC	p.G590G		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	590					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)		GCCCGGTGCTACCAGGAATAA	0.438																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(1768-1770)ggT>ggC		zinc finger protein 770							116	118	117					15																	35273866		2201	4298	6499	SO:0001819	synonymous_variant	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35273866A>G	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.1770T>C	15.37:g.35273866A>G			Somatic					p.G590G	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	2114	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	590					Q6ZMZ6|Q9NWV2	Silent	SNP	ENST00000356321.4	37	c.1770T>C	CCDS10042.1																																																																																				0.438	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		77	95	0	0	0	1	0	77	95					G	35273866	A	G	35273866	2	3	21	1	0	0	0	0	0	0	0	1	18158	378	14	4		4	ZNF770	15	35273866	Silent	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	727094	35273866	67257526	614	2039										
RASGRP1	10125	broad.mit.edu	37	chr15	38795505	38795505	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctggacgtgtttgctaatggTttttggatcaggtttgggag							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:38795505delT	ENST00000310803.5	-	11	1573	c.1396delA	c.(1396-1398)accfs	p.T466fs	RASGRP1_ENST00000539159.1_Frame_Shift_Del_p.T418fs|RASGRP1_ENST00000561180.1_Frame_Shift_Del_p.T517fs|RP11-102L12.2_ENST00000560231.1_RNA|RASGRP1_ENST00000559830.1_Intron|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000450598.2_Intron	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	466					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TTGCTAATGGTTTTTGGATCA	0.443																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(1396-1398)ccfs		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							130	120	123					15																	38795505		1928	4128	6056	SO:0001589	frameshift_variant	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38795505delT	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1396delA	15.37:g.38795505delT	ENSP00000310244:p.Thr466fs		Somatic				RASGRP1_ENST00000450598.2_Intron|RASGRP1_ENST00000558164.1_Intron|RP11-102L12.2_ENST00000560231.1_RNA|RASGRP1_ENST00000559830.1_Intron|RASGRP1_ENST00000561180.1_Frame_Shift_Del_p.T517fs|RASGRP1_ENST00000539159.1_Frame_Shift_Del_p.T418fs	p.T466fs	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	WXS	Illumina GAIIx	Phase_I	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	11	1573	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	466					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Frame_Shift_Del	DEL	ENST00000310803.5	37	c.1396delA	CCDS45222.1																																																																																				0.443	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		12	16						12	16	---	---	---	---	-	38795505	T	-	38795505	7	5	21	1	0	1	0	1	0	0	0	0	13089	1725	60	0	1025	0	RASGRP1	15	38795505	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	3521639	38795505	63735887	615	2040										
BUB1B	701	broad.mit.edu	37	chr15	40502378	40502378	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tacaagttattctgggtggcGccaagaaactctgcagaatt	10	8	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:40502378G>A	ENST00000287598.6	+	18	2547	c.2352G>A	c.(2350-2352)gcG>gcA	p.A784A	BUB1B_ENST00000412359.3_Silent_p.A798A	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	784	Protein kinase.				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)		TCTGGGTGGCGCCAAGAAACT	0.338			"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.(2350-2352)gcG>gcA		BUB1 mitotic checkpoint serine/threonine kinase B							114	110	111					15																	40502378		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.chr15:40502378G>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.2352G>A	15.37:g.40502378G>A			Somatic				BUB1B_ENST00000412359.3_Silent_p.A798A	p.A784A	NM_001211.5	NP_001202.4	WXS	Illumina GAIIx	Phase_I	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	18	2547	+		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)	784			Protein kinase.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	c.2352G>A	CCDS10053.1																																																																																				0.338	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			36	37	0	0	0	1	0	36	37					A	40502378	G	A	40502378	2	1	21	1	0	0	0	0	0	0	0	1	1573	1074	38	1		1	BUB1B	15	40502378	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1706873	40502378	62029014	616	2041										
RPUSD2	27079	broad.mit.edu	37	chr15	40861959	40861959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttcgagggcggcctgcgtaaGgtgcggccctattactttga	14	10	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:40861959G>T	ENST00000315616.7	+	1	461	c.423G>T	c.(421-423)aaG>aaT	p.K141N	RPUSD2_ENST00000559271.1_Splice_Site_p.K141N	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	141					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		GCCTGCGTAAGGTGCGGCCCT	0.607																																						ENST00000315616.7																			0				kidney(4)|lung(4)|skin(3)	11						c.(421-423)aaG>aaT		RNA pseudouridylate synthase domain containing 2							35	29	31					15																	40861959		2203	4300	6503	SO:0001583	missense	27079				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr15:40861959G>T	AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"RNA pseudouridylate synthase domain containing"	24180	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 19"	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.423G>T	15.37:g.40861959G>T	ENSP00000323288:p.Lys141Asn		Somatic				RPUSD2_ENST00000559271.1_Splice_Site_p.K141_splice	p.K141N	NM_152260.1	NP_689473.1	WXS	Illumina GAIIx	Phase_I	Q8IZ73	RUSD2_HUMAN		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)	1	461	+		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	141					B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	ENST00000315616.7	37	c.423G>T	CCDS10061.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394655	0.83011	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.35789	1.29	5.93	1.77	0.24775	.	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.56019	-0.8048	10	0.72032	D	0.01	-22.2246	10.3951	0.44196	0.25:0.0:0.75:0.0	.	141	Q8IZ73	RUSD2_HUMAN	N	141;120	ENSP00000323288:K141N	ENSP00000323288:K141N	K	+	3	2	RPUSD2	38649251	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.918000	0.48829	0.053000	0.16036	-0.136000	0.14681	AAG		0.607	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2	NM_152260		3	19	1	0	0.004672	1	0.00472589	3	19					T	40861959	G	T	40861959	3	4	21	1	0	0	0	0	1	0	0	0	13682	991	35	5	425	5	RPUSD2	15	40861959	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	359581	40861959	61669433	617	2042										
ZFYVE19	84936	broad.mit.edu	37	chr15	41099853	41099853	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gctggctgcaggagagcgtcCggattccctgctctaggtcg	15	12	1	1	rs199645685		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:41099853C>G	ENST00000355341.4	+	1	567	c.66C>G	c.(64-66)tcC>tcG	p.S22S	ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000299173.10_Silent_p.S22S|ZFYVE19_ENST00000336455.5_Intron|DNAJC17_ENST00000220496.4_5'Flank	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	22					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGAGAGCGTCCGGATTCCCTG	0.692																																						ENST00000355341.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(64-66)tcC>tcG		zinc finger, FYVE domain containing 19							15	19	18					15																	41099853		2105	4188	6293	SO:0001819	synonymous_variant	84936						zinc ion binding	g.chr15:41099853C>G	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"Zinc fingers, FYVE domain containing"	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.66C>G	15.37:g.41099853C>G			Somatic				ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000299173.10_Silent_p.S22S|ZFYVE19_ENST00000336455.5_Intron	p.S22S	NM_001077268.1	NP_001070736.1	WXS	Illumina GAIIx	Phase_I	Q96K21	ZFY19_HUMAN		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	1	567	+		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	22					B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	c.66C>G	CCDS42025.1																																																																																				0.692	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1	NM_032850		11	16	0	0	0	1	0	11	16					G	41099853	C	G	41099853	2	3	21	1	0	0	0	0	0	0	0	1	17680	639	23	5		5	ZFYVE19	15	41099853	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	237894	41099853	61431539	618	2043										
SPTBN5	51332	broad.mit.edu	37	chr15	42162110	42162110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctgctccatgcgtcgctgcaGcactgcccacgcctgcgtca	10	18	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:42162110G>A	ENST00000320955.6	-	32	6009	c.5782C>T	c.(5782-5784)Ctg>Ttg	p.L1928L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1928					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)		CGTCGCTGCAGCACTGCCCAC	0.701																																						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.(5782-5784)Ctg>Ttg		spectrin, beta, non-erythrocytic 5							6	7	7					15																	42162110		2141	4216	6357	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42162110G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5782C>T	15.37:g.42162110G>A			Somatic					p.L1928L	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)	32	6009	-		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)	1928						Silent	SNP	ENST00000320955.6	37	c.5782C>T																																																																																					0.701	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		6	4	0	0	0	1	0	6	4					A	42162110	G	A	42162110	2	1	21	1	0	0	0	0	0	0	0	1	15137	962	34	3		3	SPTBN5	15	42162110	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1062257	42162110	60369282	619	2044										
ATP8B4	79895	broad.mit.edu	37	chr15	50152666	50152666	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cttttgagccttctgccaccGgcggatctggagagaaacag	12	11	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:50152666G>T	ENST00000284509.6	-	28	3445	c.3304C>A	c.(3304-3306)Cgg>Agg	p.R1102R	ATP8B4_ENST00000559829.1_Silent_p.R1102R	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1102						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)		TTCTGCCACCGGCGGATCTGG	0.502																																						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.(3304-3306)Cgg>Agg		ATPase, class I, type 8B, member 4							59	58	58					15																	50152666		2195	4293	6488	SO:0001819	synonymous_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50152666G>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3304C>A	15.37:g.50152666G>T			Somatic				ATP8B4_ENST00000559829.1_Silent_p.R1102R	p.R1102R	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)	28	3445	-		all_lung(180;0.00183)	1102					Q9H727	Silent	SNP	ENST00000284509.6	37	c.3304C>A	CCDS32238.1																																																																																				0.502	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		40	62	1	0	7.40236e-40	1	8.35505e-40	40	62					T	50152666	G	T	50152666	2	4	21	1	0	0	0	0	0	0	0	1	1197	1115	39	5		5	ATP8B4	15	50152666	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	7990556	50152666	52378726	620	2045										
KIAA1370	56204	broad.mit.edu	37	chr15	52905907	52905907	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tacattcatgtttggtagttActgggtaacaagactgtgct	10	6	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:52905907A>T	ENST00000261844.7	-	3	316	c.164T>A	c.(163-165)gTa>gAa	p.V55E	FAM214A_ENST00000546305.2_Missense_Mutation_p.V62E	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	55								p.V55E(1)									TTTGGTAGTTACTGGGTAACA	0.408																																						ENST00000261844.7																			1	Substitution - Missense(1)	p.V55E(1)	breast(1)								c.(163-165)gTa>gAa		family with sequence similarity 214, member A							126	121	123					15																	52905907		1917	4151	6068	SO:0001583	missense	56204							g.chr15:52905907A>T	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.164T>A	15.37:g.52905907A>T	ENSP00000261844:p.Val55Glu		Somatic				FAM214A_ENST00000546305.2_Missense_Mutation_p.V62E	p.V55E	NM_019600.2	NP_062546.2	WXS	Illumina GAIIx	Phase_I	Q32MH5	K1370_HUMAN			3	316	-			55					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.164T>A	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.543124	0.45280	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.31247	1.5;1.5	6.01	-2.48	0.06423	.	0.850867	0.10806	N	0.632141	T	0.17492	0.0420	L	0.38175	1.15	0.20638	N	0.999876	B;B	0.32071	0.355;0.242	B;B	0.32980	0.156;0.075	T	0.31696	-0.9934	10	0.02654	T	1	.	7.8916	0.29682	0.2259:0.4893:0.2848:0.0	.	62;55	F5H8G0;Q32MH5	.;K1370_HUMAN	E	55;55;54;62	ENSP00000261844:V55E;ENSP00000443598:V62E	ENSP00000261844:V55E	V	-	2	0	KIAA1370	50693199	0.437000	0.25593	0.251000	0.24312	0.998000	0.95712	0.505000	0.22642	-0.716000	0.04962	0.523000	0.50628	GTA		0.408	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		13	20	0	0	0	1	0	13	20					T	52905907	A	T	52905907	3	4	21	1	0	0	0	0	1	0	0	0	8235	391	14	4	3110	4	KIAA1370	15	52905907	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	2753241	52905907	49625485	621	2046										
UNC13C	440279	broad.mit.edu	37	chr15	54625988	54625988	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aactttcctgcaagcaatacTgaaagactgcaagacctgaa	7	10	0	4			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:54625988T>C	ENST00000260323.11	+	15	4518	c.4518T>C	c.(4516-4518)acT>acC	p.T1506T	UNC13C_ENST00000537900.1_Silent_p.T1504T|UNC13C_ENST00000545554.1_Silent_p.T1506T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1506					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)		CAAGCAATACTGAAAGACTGC	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.(4516-4518)acT>acC		unc-13 homolog C (C. elegans)							124	116	119					15																	54625988		1843	4077	5920	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54625988T>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4518T>C	15.37:g.54625988T>C			Somatic				UNC13C_ENST00000260323.11_Silent_p.T1506T|UNC13C_ENST00000537900.1_Silent_p.T1504T	p.T1506T			WXS	Illumina GAIIx	Phase_I	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	15	4518	+			1506					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.4518T>C	CCDS45264.1																																																																																				0.348	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		7	13	0	0	0	1	0	7	13					C	54625988	T	C	54625988	2	2	21	1	0	0	0	0	0	0	0	1	17001	1567	55	4		4	UNC13C	15	54625988	Silent	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1720081	54625988	47905404	622	2047										
ZNF280D	54816	broad.mit.edu	37	chr15	56970921	56970921	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	actgcaactgaaatggtgtgGgaaactgacggtagcagtgc	14	7	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:56970921G>T	ENST00000267807.7	-	11	1319	c.1103C>A	c.(1102-1104)cCc>cAc	p.P368H	ZNF280D_ENST00000559000.1_Missense_Mutation_p.P355H|ZNF280D_ENST00000396245.1_Missense_Mutation_p.P72H|ZNF280D_ENST00000559237.1_Missense_Mutation_p.P355H	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	368					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(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		AAATGGTGTGGGAAACTGACG	0.408																																						ENST00000559237.1																			0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(1063-1065)cCc>cAc		zinc finger protein 280D							250	204	220					15																	56970921		2192	4292	6484	SO:0001583	missense	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56970921G>T	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1103C>A	15.37:g.56970921G>T	ENSP00000267807:p.Pro368His		Somatic				ZNF280D_ENST00000396245.1_Missense_Mutation_p.P72H|ZNF280D_ENST00000559000.1_Missense_Mutation_p.P355H|ZNF280D_ENST00000267807.7_Missense_Mutation_p.P368H	p.P355H	NM_001002843.1	NP_001002843.1	WXS	Illumina GAIIx	Phase_I	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	10	1747	-			368					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	c.1064C>A	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926819	0.73327	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000260435;ENST00000396245	T;T	0.03441	3.93;4.41	5.23	5.23	0.72850	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.908185	0.09185	N	0.836875	T	0.16981	0.0408	L	0.52206	1.635	0.40514	D	0.980762	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.01018	-1.1479	10	0.87932	D	0	-3.6974	17.7713	0.88493	0.0:0.0:1.0:0.0	.	431;368	B4DHL1;Q6N043	.;Z280D_HUMAN	H	368;355;204;72	ENSP00000267807:P368H;ENSP00000379545:P72H	ENSP00000260435:P204H	P	-	2	0	ZNF280D	54758213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.251000	0.78297	2.426000	0.82243	0.557000	0.71058	CCC		0.408	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		33	48	1	0	6.84511e-11	1	7.26775e-11	33	48					T	56970921	G	T	56970921	3	4	21	1	0	0	0	0	1	0	0	0	17832	1232	43	5	1884	5	ZNF280D	15	56970921	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2344933	56970921	45560471	623	2048										
NARG2	79664	broad.mit.edu	37	chr15	60747588	60747588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gctatatcgtcctttgacagCtgcaactttataggcattga	8	9	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:60747588C>A	ENST00000261520.4	-	7	954	c.720G>T	c.(718-720)caG>caT	p.Q240H	NARG2_ENST00000561114.1_Missense_Mutation_p.Q240H|NARG2_ENST00000439632.1_Missense_Mutation_p.Q103H	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						CCTTTGACAGCTGCAACTTTA	0.333																																						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.(718-720)caG>caT		NMDA receptor regulated 2							181	162	169					15																	60747588		2202	4300	6502	SO:0001583	missense	79664					nucleus		g.chr15:60747588C>A																												ENST00000261520.4:c.720G>T	15.37:g.60747588C>A	ENSP00000261520:p.Gln240His		Somatic				NARG2_ENST00000561114.1_Missense_Mutation_p.Q240H|NARG2_ENST00000439632.1_Missense_Mutation_p.Q103H	p.Q240H	NM_024611.4	NP_078887.2	WXS	Illumina GAIIx	Phase_I	Q659A1	NARG2_HUMAN			7	954	-			240						Missense_Mutation	SNP	ENST00000261520.4	37	c.720G>T	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	C	8.991	0.977766	0.18812	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	4.37	0.0766	0.14404	.	0.583787	0.16312	N	0.219978	T	0.25717	0.0626	N	0.22421	0.69	0.25711	N	0.985484	P;P	0.39624	0.681;0.641	P;B	0.45138	0.471;0.275	T	0.12785	-1.0534	9	0.62326	D	0.03	0.0132	4.7564	0.13086	0.4198:0.4088:0.0:0.1714	.	103;240	G3V0H6;Q659A1	.;NARG2_HUMAN	H	240;103	.	ENSP00000261520:Q240H	Q	-	3	2	NARG2	58534880	0.832000	0.29368	0.901000	0.35422	0.069000	0.16628	-0.412000	0.07132	0.151000	0.19162	0.563000	0.77884	CAG		0.333	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			53	56	1	0	1.10885e-35	1	1.24515e-35	53	56					A	60747588	C	A	60747588	3	1	21	1	0	0	0	0	1	0	0	0	10178	796	28	5	2268	5	NARG2	15	60747588	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3776667	60747588	41783804	624	2049										
VPS13C	54832	broad.mit.edu	37	chr15	62174867	62174868	+	Frame_Shift_Ins	INS	-	-	A													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	attcaatctgaattcctgatINSaaaaagtctcgtttaatagg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:62174867_62174868insA	ENST00000261517.5	-	69	9624_9625	c.9551_9552insT	c.(9550-9552)ttafs	p.L3184fs	VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.L3141fs|VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.L3141fs|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.L3184fs	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						GAATTCCTGATAAAAAGTCTCG	0.371																																						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.(9550-9552)ttcfs		vacuolar protein sorting 13 homolog C (S. cerevisiae)																																				SO:0001589	frameshift_variant	54832				protein localization			g.chr15:62174867_62174868insA	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.9552dupT	15.37:g.62174872_62174872dupA	ENSP00000261517:p.Leu3184fs		Somatic				VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.F3141fs|VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.F3141fs|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.F3184fs	p.F3184fs	NM_020821.2	NP_065872.1	WXS	Illumina GAIIx	Phase_I	Q709C8	VP13C_HUMAN			69	9624_9625	-			3184						Frame_Shift_Ins	INS	ENST00000261517.5	37	c.9551_9552insT	CCDS32257.1																																																																																				0.371	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		35	49						35	49	---	---	---	---	A	62174868	-	A	62174867	7	5	21	1	0	1	1	0	0	0	0	0	17206	1403	49	0	1805	0	VPS13C	15	62174867	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	1427279	62174867	40356525	625	2050										
VPS13C	54832	broad.mit.edu	37	chr15	62201259	62201259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcaggtgcagatccctcatgGtaatcagaaaaagttatgac	10	8	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:62201259G>A	ENST00000261517.5	-	65	8983	c.8910C>T	c.(8908-8910)taC>taT	p.Y2970Y	VPS13C_ENST00000249837.3_Silent_p.Y2927Y|VPS13C_ENST00000395898.3_Silent_p.Y2927Y|VPS13C_ENST00000395896.4_Silent_p.Y2970Y	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						ATCCCTCATGGTAATCAGAAA	0.378																																						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.(8908-8910)taC>taT		vacuolar protein sorting 13 homolog C (S. cerevisiae)							155	143	147					15																	62201259		2203	4300	6503	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62201259G>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.8910C>T	15.37:g.62201259G>A			Somatic				VPS13C_ENST00000395898.3_Silent_p.Y2927Y|VPS13C_ENST00000249837.3_Silent_p.Y2927Y|VPS13C_ENST00000395896.4_Silent_p.Y2970Y	p.Y2970Y	NM_020821.2	NP_065872.1	WXS	Illumina GAIIx	Phase_I	Q709C8	VP13C_HUMAN			65	8983	-			2970						Silent	SNP	ENST00000261517.5	37	c.8910C>T	CCDS32257.1																																																																																				0.378	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		24	30	0	0	0	1	0	24	30					A	62201259	G	A	62201259	2	1	21	1	0	0	0	0	0	0	0	1	17206	1256	44	3		3	VPS13C	15	62201259	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	26392	62201259	40330133	626	2051										
USP3	9960	broad.mit.edu	37	chr15	63829242	63829242	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggtatgtgaatggccatgcAaaaaaacattatgaagatgc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:63829242delA	ENST00000380324.3	+	3	300	c.171delA	c.(169-171)gcafs	p.A57fs	USP3_ENST00000558285.1_Frame_Shift_Del_p.A40fs|USP3_ENST00000539772.1_Intron|USP3_ENST00000540797.1_Intron|USP3_ENST00000268049.7_Frame_Shift_Del_p.A35fs|USP3_ENST00000536001.1_Frame_Shift_Del_p.A57fs	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	57					DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		ATGGCCATGCAAAAAAACATT	0.299																																						ENST00000268049.7																			0				endometrium(3)|large_intestine(7)|lung(4)	14						c.(103-105)gcfs		ubiquitin specific peptidase 3							93	78	83					15																	63829242		2203	4299	6502	SO:0001589	frameshift_variant	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63829242delA	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"Ubiquitin-specific peptidases"	12626	protein-coding gene	gene with protein product		604728	"ubiquitin specific protease 3"			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.171delA	15.37:g.63829242delA	ENSP00000369681:p.Ala57fs		Somatic				USP3_ENST00000540797.1_Intron|USP3_ENST00000539772.1_Intron|USP3_ENST00000536001.1_Frame_Shift_Del_p.A57fs|USP3_ENST00000380324.3_Frame_Shift_Del_p.A57fs|USP3_ENST00000558285.1_Frame_Shift_Del_p.A40fs	p.A35fs			WXS	Illumina GAIIx	Phase_I	Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	4	429	+			57					B4DVU5|F5H1A6|Q8WVD0	Frame_Shift_Del	DEL	ENST00000380324.3	37	c.105delA	CCDS32265.1																																																																																				0.299	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			10	18						10	18	---	---	---	---	-	63829242	A	-	63829242	7	5	21	1	0	1	0	1	0	0	0	0	17075	117	5	0	181	0	USP3	15	63829242	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	1627983	63829242	38702150	627	2052										
PIF1	80119	broad.mit.edu	37	chr15	65110488	65110488	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cctcgaacccaactaccaccCctcgggcaccattcaccagg	6	20	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:65110488C>A	ENST00000268043.4	-	10	1590	c.1496G>T	c.(1495-1497)gGg>gTg	p.G499V	PIF1_ENST00000333425.6_Missense_Mutation_p.G499V|PIF1_ENST00000559239.1_Missense_Mutation_p.G499V					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						AACTACCACCCCTCGGGCACC	0.612																																						ENST00000268043.4																			0				kidney(1)|lung(1)	2						c.(1495-1497)gGg>gTg		PIF1 5'-to-3' DNA helicase							150	117	128					15																	65110488		2202	4299	6501	SO:0001583	missense	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65110488C>A	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"chromosome 15 open reading frame 20", "PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1496G>T	15.37:g.65110488C>A	ENSP00000268043:p.Gly499Val		Somatic				PIF1_ENST00000559239.1_Missense_Mutation_p.G499V|PIF1_ENST00000333425.6_Missense_Mutation_p.G499V	p.G499V			WXS	Illumina GAIIx	Phase_I	Q9H611	PIF1_HUMAN			10	1590	-			499			Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.			Missense_Mutation	SNP	ENST00000268043.4	37	c.1496G>T	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754963	0.89843	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.75938	-0.98;-0.98	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.90981	0.7164	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93775	0.7078	10	0.87932	D	0	-31.6424	16.7182	0.85402	0.0:1.0:0.0:0.0	.	499	Q9H611	PIF1_HUMAN	V	499	ENSP00000268043:G499V;ENSP00000328174:G499V	ENSP00000268043:G499V	G	-	2	0	PIF1	62897541	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.312000	0.78968	2.539000	0.85634	0.561000	0.74099	GGG		0.612	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		24	49	1	0	1.77063e-15	1	1.91002e-15	24	49					A	65110488	C	A	65110488	3	1	21	1	0	0	0	0	1	0	0	0	11892	623	22	5	445	5	PIF1	15	65110488	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1281246	65110488	37420904	628	2053										
MTFMT	123263	broad.mit.edu	37	chr15	65312544	65312544	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccttcactcaccgtaagtcgCcccctccattggctgctgcc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:65312544delC	ENST00000220058.4	-	5	725	c.712delG	c.(712-714)gcgfs	p.A238fs	MTFMT_ENST00000561025.1_5'Flank	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	238						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CCGTAAGTCGCCCCCTCCATT	0.408																																						ENST00000220058.4																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10						c.(712-714)cgfs		mitochondrial methionyl-tRNA formyltransferase	Tetrahydrofolic acid(DB00116)						36	40	39					15																	65312544		1974	4173	6147	SO:0001589	frameshift_variant	123263					mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity	g.chr15:65312544delC	AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.712delG	15.37:g.65312544delC	ENSP00000220058:p.Ala238fs		Somatic					p.A238fs	NM_139242.3	NP_640335.2	WXS	Illumina GAIIx	Phase_I	Q96DP5	FMT_HUMAN			5	725	-			238					B7Z734	Frame_Shift_Del	DEL	ENST00000220058.4	37	c.712delG	CCDS45280.1																																																																																				0.408	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		19	35						19	35	---	---	---	---	-	65312544	C	-	65312544	7	5	21	1	0	1	0	1	0	0	0	0	9933	739	26	0	477	0	MTFMT	15	65312544	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	202056	65312544	37218848	629	2054										
RAB11A	8766	broad.mit.edu	37	chr15	66170108	66170108	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttctgttttcagatattatcGtggagctgtaggtgccttat	10	6	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:66170108G>A	ENST00000261890.2	+	3	373	c.245G>A	c.(244-246)cGt>cAt	p.R82H	RAB11A_ENST00000565075.1_Missense_Mutation_p.R82H|RAB11A_ENST00000435304.2_Missense_Mutation_p.R82H|RAB11A_ENST00000564910.1_Intron|RAB11A_ENST00000569896.1_Missense_Mutation_p.R82H	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	82					cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						AGATATTATCGTGGAGCTGTA	0.358																																						ENST00000261890.2																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(244-246)cGt>cAt		RAB11A, member RAS oncogene family							96	91	93					15																	66170108		2201	4299	6500	SO:0001583	missense	8766				cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding	g.chr15:66170108G>A	X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"RAB, member RAS oncogene"	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.245G>A	15.37:g.66170108G>A	ENSP00000261890:p.Arg82His		Somatic				RAB11A_ENST00000435304.2_Missense_Mutation_p.R82H|RAB11A_ENST00000564910.1_Intron|RAB11A_ENST00000565075.1_Missense_Mutation_p.R82H|RAB11A_ENST00000569896.1_Missense_Mutation_p.R82H	p.R82H	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	WXS	Illumina GAIIx	Phase_I	P62491	RB11A_HUMAN			3	373	+			82					B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	Missense_Mutation	SNP	ENST00000261890.2	37	c.245G>A	CCDS10212.1	.	.	.	.	.	.	.	.	.	.	G	33	5.197708	0.94997	.	.	ENSG00000103769	ENST00000261890;ENST00000435304	D;D	0.82255	-1.59;-1.59	5.27	5.27	0.74061	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.86205	0.5877	M	0.72118	2.19	0.80722	D	1	P;D	0.59767	0.85;0.986	B;P	0.47891	0.199;0.56	D	0.88462	0.3056	10	0.87932	D	0	.	18.8814	0.92357	0.0:0.0:1.0:0.0	.	82;82	B4DT13;P62491	.;RB11A_HUMAN	H	82	ENSP00000261890:R82H;ENSP00000405767:R82H	ENSP00000261890:R82H	R	+	2	0	RAB11A	63957162	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.457000	0.83068	0.655000	0.94253	CGT		0.358	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256864.1			17	48	0	0	0	1	0	17	48					A	66170108	G	A	66170108	3	1	21	1	0	0	0	0	1	0	0	0	12906	1145	40	1	255	1	RAB11A	15	66170108	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	857564	66170108	36361284	630	2055										
CALML4	91860	broad.mit.edu	37	chr15	68486389	68486389	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggaagggtgatcttgtggatAaattcatcatacttcacttt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:68486389delA	ENST00000467889.1	-	5	739	c.555delT	c.(553-555)tttfs	p.F185fs	CALML4_ENST00000540479.1_Frame_Shift_Del_p.F109fs|CALML4_ENST00000395465.3_3'UTR|RP11-315D16.2_ENST00000562767.1_3'UTR|CALML4_ENST00000448060.2_Frame_Shift_Del_p.F138fs	NM_033429.2	NP_219501.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	185	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TCTTGTGGATAAATTCATCAT	0.403																																						ENST00000448060.2																			0				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(412-414)ttfs		calmodulin-like 4							125	105	112					15																	68486389		2200	4298	6498	SO:0001589	frameshift_variant	91860						calcium ion binding	g.chr15:68486389delA	AF308287	CCDS10226.2, CCDS42052.1, CCDS66808.1	15q22.31	2013-01-10			ENSG00000129007	ENSG00000129007		"EF-hand domain containing"	18445	protein-coding gene	gene with protein product							Standard	NM_033429		Approved	MGC4809, NY-BR-20	uc002arb.3	Q96GE6	OTTHUMG00000133287	ENST00000467889.1:c.555delT	15.37:g.68486389delA	ENSP00000419081:p.Phe185fs		Somatic				CALML4_ENST00000395465.3_3'UTR|RP11-315D16.2_ENST00000562767.1_3'UTR|CALML4_ENST00000467889.1_Frame_Shift_Del_p.F185fs|CALML4_ENST00000540479.1_Frame_Shift_Del_p.F109fs	p.F138fs	NM_001031733.2	NP_001026903.2	WXS	Illumina GAIIx	Phase_I	Q96GE6	CALL4_HUMAN			4	525	-			185			EF-hand 3.		B4DL15|F8W6Y4|Q6MZY3|Q6N048|Q9H286	Frame_Shift_Del	DEL	ENST00000467889.1	37	c.414delT	CCDS10226.2																																																																																				0.403	CALML4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257067.3	NM_033429		40	40						40	40	---	---	---	---	-	68486389	A	-	68486389	7	5	21	1	0	1	0	1	0	0	0	0	2590	359	13	0	39	0	CALML4	15	68486389	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	2316281	68486389	34045003	631	2056										
UACA	55075	broad.mit.edu	37	chr15	70959372	70959372	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	actacctctctagtctctaaTttttttaatgcttgtttagt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:70959372delT	ENST00000322954.6	-	16	3836	c.3651delA	c.(3649-3651)aaafs	p.K1217fs	UACA_ENST00000560441.1_Frame_Shift_Del_p.K1202fs|UACA_ENST00000539319.1_Frame_Shift_Del_p.K1108fs|UACA_ENST00000379983.2_Frame_Shift_Del_p.K1204fs	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1217					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						TAGTCTCTAATTTTTTTAATG	0.348																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(3649-3651)aafs		uveal autoantigen with coiled-coil domains and ankyrin repeats							97	96	97					15																	70959372		2199	4298	6497	SO:0001589	frameshift_variant	55075					cytoskeleton|extracellular region		g.chr15:70959372delT	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.3651delA	15.37:g.70959372delT	ENSP00000314556:p.Lys1217fs		Somatic				UACA_ENST00000539319.1_Frame_Shift_Del_p.K1108fs|UACA_ENST00000379983.2_Frame_Shift_Del_p.K1204fs|UACA_ENST00000560441.1_Frame_Shift_Del_p.K1202fs	p.K1217fs	NM_018003.2	NP_060473.2	WXS	Illumina GAIIx	Phase_I	Q9BZF9	UACA_HUMAN			16	3836	-			1217					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Frame_Shift_Del	DEL	ENST00000322954.6	37	c.3651delA	CCDS10235.1																																																																																				0.348	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			33	68						33	68	---	---	---	---	-	70959372	T	-	70959372	7	5	21	1	0	1	0	1	0	0	0	0	16839	1490	52	0	615	0	UACA	15	70959372	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2472983	70959372	31572020	632	2057										
ISLR2	57611	broad.mit.edu	37	chr15	74425609	74425609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcaccttcgacgcgcttagcGcgctgtcacacttgcaactc	9	16	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:74425609G>A	ENST00000361742.3	+	4	1283	c.514G>A	c.(514-516)Gcg>Acg	p.A172T	ISLR2_ENST00000565159.1_Missense_Mutation_p.A172T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Missense_Mutation_p.A172T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A172T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A172T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A172T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A172T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	172					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CGCGCTTAGCGCGCTGTCACA	0.667																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(514-516)Gcg>Acg		immunoglobulin superfamily containing leucine-rich repeat 2							56	63	61					15																	74425609		2198	4293	6491	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425609G>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.514G>A	15.37:g.74425609G>A	ENSP00000355402:p.Ala172Thr		Somatic				ISLR2_ENST00000435464.1_Missense_Mutation_p.A172T|ISLR2_ENST00000565159.1_Missense_Mutation_p.A172T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A172T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A172T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000445793.1_Missense_Mutation_p.A172T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A172T	p.A172T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	WXS	Illumina GAIIx	Phase_I	Q6UXK2	ISLR2_HUMAN			4	1283	+			172					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.514G>A	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338972	0.60963	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	4.46	3.45	0.39498	.	0.158495	0.42821	U	0.000650	T	0.55529	0.1926	L	0.35723	1.085	0.45979	D	0.998791	D	0.57899	0.981	P	0.52066	0.689	T	0.58792	-0.7574	10	0.54805	T	0.06	.	11.4853	0.50350	0.0:0.0:0.6426:0.3574	.	172	Q6UXK2	ISLR2_HUMAN	T	172	ENSP00000403244:A172T;ENSP00000355402:A172T;ENSP00000411443:A172T;ENSP00000411834:A172T;ENSP00000408872:A172T	ENSP00000355402:A172T	A	+	1	0	ISLR2	72212662	0.993000	0.37304	0.996000	0.52242	0.931000	0.56810	2.415000	0.44635	2.042000	0.60477	0.407000	0.27541	GCG		0.667	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		70	95	0	0	0	1	0	70	95					A	74425609	G	A	74425609	3	1	21	1	0	0	0	0	1	0	0	0	7868	1087	38	1	516	1	ISLR2	15	74425609	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3466237	74425609	28105783	633	2058										
CYP1A2	1544	broad.mit.edu	37	chr15	75042527	75042527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccctcaacaccttctccatcGcctctgacccagcttcctca	3	21	4	1	rs192799115	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:75042527G>A	ENST00000343932.4	+	2	511	c.448G>A	c.(448-450)Gcc>Acc	p.A150T		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	150					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.A150T(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	CTTCTCCATCGCCTCTGACCC	0.622													G|||	3	0.000599042	8e-04	0.0029	5008	,	,		19599	0		0	False		,,,				2504	0					ENST00000343932.4																			1	Substitution - Missense(1)	p.A150T(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(448-450)Gcc>Acc		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						118	116	117					15																	75042527		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042527G>A	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.448G>A	15.37:g.75042527G>A	ENSP00000342007:p.Ala150Thr		Somatic					p.A150T	NM_000761.3	NP_000752.2	WXS	Illumina GAIIx	Phase_I	P05177	CP1A2_HUMAN			2	511	+			150					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.448G>A	CCDS32293.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	15.69	2.906765	0.52333	.	.	ENSG00000140505	ENST00000343932	T	0.79554	-1.28	4.53	3.54	0.40534	.	0.248699	0.41001	D	0.000978	D	0.83815	0.5336	M	0.82132	2.575	0.29040	N	0.88516	D	0.61080	0.989	P	0.61874	0.895	T	0.79761	-0.1667	10	0.49607	T	0.09	.	12.5553	0.56250	0.0:0.0:0.7114:0.2886	.	150	P05177-2	.	T	150	ENSP00000342007:A150T	ENSP00000342007:A150T	A	+	1	0	CYP1A2	72829580	0.754000	0.28360	0.898000	0.35279	0.387000	0.30353	1.674000	0.37544	2.499000	0.84300	0.561000	0.74099	GCC		0.622	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		108	167	0	0	0	1	0	108	167					A	75042527	G	A	75042527	3	1	21	1	0	0	0	0	1	0	0	0	4152	1087	38	1	450	1	CYP1A2	15	75042527	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	616918	75042527	27488865	634	2059										
C15orf39	56905	broad.mit.edu	37	chr15	75498963	75498963	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctctggatggcaccttcttgCggggggtgccagctgagggg	18	10	2	1	rs548759069		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:75498963C>T	ENST00000360639.2	+	2	894	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	C15orf39_ENST00000394987.4_Missense_Mutation_p.R192W|C15orf39_ENST00000567617.1_Missense_Mutation_p.R192W			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	192						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CACCTTCTTGCGGGGGGTGCC	0.627													C|||	1	0.000199681	0	0	5008	,	,		13712	0.001		0	False		,,,				2504	0					ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(574-576)Cgg>Tgg		chromosome 15 open reading frame 39							37	41	40					15																	75498963		2197	4291	6488	SO:0001583	missense	56905							g.chr15:75498963C>T	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.574C>T	15.37:g.75498963C>T	ENSP00000353854:p.Arg192Trp		Somatic				C15orf39_ENST00000567617.1_Missense_Mutation_p.R192W|C15orf39_ENST00000394987.4_Missense_Mutation_p.R192W	p.R192W			WXS	Illumina GAIIx	Phase_I	Q6ZRI6	CO039_HUMAN			2	894	+			192					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.574C>T	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979601	0.34942	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.66460	-0.21;-0.21	5.13	1.88	0.25563	.	0.643074	0.13616	N	0.374763	T	0.67720	0.2923	L	0.57536	1.79	0.21355	N	0.999715	D	0.67145	0.996	P	0.50708	0.648	T	0.58544	-0.7618	10	0.87932	D	0	-2.3691	8.9497	0.35781	0.1563:0.5404:0.3033:0.0	.	192	Q6ZRI6	CO039_HUMAN	W	192	ENSP00000353854:R192W;ENSP00000378438:R192W	ENSP00000353854:R192W	R	+	1	2	C15orf39	73286016	0.053000	0.20554	0.667000	0.29798	0.866000	0.49608	1.305000	0.33493	0.499000	0.27970	0.561000	0.74099	CGG		0.627	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		48	62	0	0	0	1	0	48	62					T	75498963	C	T	75498963	3	4	21	1	0	0	0	0	1	0	0	0	1795	759	27	1	576	1	C15orf39	15	75498963	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	456436	75498963	27032429	635	2060										
ADAMTS7	11173	broad.mit.edu	37	chr15	79058095	79058095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggctgggtctcagggactctGtggctgttggcggggctgtc	19	9	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:79058095G>A	ENST00000388820.4	-	19	4368	c.4158C>T	c.(4156-4158)caC>caT	p.H1386H	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1386					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CAGGGACTCTGTGGCTGTTGG	0.682																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(4156-4158)caC>caT		ADAM metallopeptidase with thrombospondin type 1 motif, 7							20	26	24					15																	79058095		2156	4236	6392	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79058095G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4158C>T	15.37:g.79058095G>A			Somatic					p.H1386H	NM_014272.3	NP_055087.2	WXS	Illumina GAIIx	Phase_I	Q9UKP4	ATS7_HUMAN			19	4368	-			1386					Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.4158C>T	CCDS32303.1																																																																																				0.682	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		42	61	0	0	0	1	0	42	61					A	79058095	G	A	79058095	2	1	21	1	0	0	0	0	0	0	0	1	271	1368	48	3		3	ADAMTS7	15	79058095	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3559132	79058095	23473297	636	2061										
ALPK3	57538	broad.mit.edu	37	chr15	85383002	85383002	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aagggcattgtgtcctgctcAggggtcctggaggtgggcac	17	9	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:85383002A>G	ENST00000258888.5	+	5	1265	c.1098A>G	c.(1096-1098)tcA>tcG	p.S366S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	366	Ig-like 1.				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)			TGTCCTGCTCAGGGGTCCTGG	0.607																																						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.(1096-1098)tcA>tcG		alpha-kinase 3							77	69	72					15																	85383002		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85383002A>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.1098A>G	15.37:g.85383002A>G			Somatic					p.S366S	NM_020778.4	NP_065829.3	WXS	Illumina GAIIx	Phase_I	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	1265	+			366			Ig-like 1.		Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.1098A>G	CCDS10333.1																																																																																				0.607	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		44	64	0	0	0	1	0	44	64					G	85383002	A	G	85383002	2	3	21	1	0	0	0	0	0	0	0	1	546	175	7	4		4	ALPK3	15	85383002	Silent	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	6324907	85383002	17148390	637	2062										
KLHL25	64410	broad.mit.edu	37	chr15	86312497	86312497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acaggctgttgaagtcctcgCtctgcctcaccgtctcaaag	9	14	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:86312497C>T	ENST00000337975.5	-	2	819	c.545G>A	c.(544-546)aGc>aAc	p.S182N	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000536947.1_Missense_Mutation_p.S182N|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	182	BACK.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GAAGTCCTCGCTCTGCCTCAC	0.617																																						ENST00000337975.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(544-546)aGc>aAc		kelch-like family member 25							80	60	67					15																	86312497		2202	4299	6501	SO:0001583	missense	64410					cytoplasm		g.chr15:86312497C>T		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"Kelch-like", "BTB/POZ domain containing"	25732	protein-coding gene	gene with protein product	"ectodermal-neural cortex 2"		"kelch-like 25 (Drosophila)"				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.545G>A	15.37:g.86312497C>T	ENSP00000336800:p.Ser182Asn		Somatic				KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.S182N	p.S182N	NM_022480.3	NP_071925.2	WXS	Illumina GAIIx	Phase_I	Q9H0H3	ENC2_HUMAN			2	819	-			182					B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	c.545G>A	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	C	9.707	1.155916	0.21454	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.69926	-0.44;-0.44	5.03	5.03	0.67393	BTB/Kelch-associated (2);	0.229469	0.42964	D	0.000626	T	0.51890	0.1701	L	0.33189	0.99	0.37082	D	0.899048	B	0.02656	0.0	B	0.10450	0.005	T	0.50890	-0.8774	10	0.08179	T	0.78	.	13.15	0.59484	0.0:0.8396:0.1604:0.0	.	182	Q9H0H3	ENC2_HUMAN	N	182;151;182	ENSP00000336800:S182N;ENSP00000444739:S182N	ENSP00000336800:S182N	S	-	2	0	KLHL25	84113501	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.061000	0.57485	2.351000	0.79841	0.462000	0.41574	AGC		0.617	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		30	36	0	0	0	1	0	30	36					T	86312497	C	T	86312497	3	4	21	1	0	0	0	0	1	0	0	0	8389	797	28	3	1228	3	KLHL25	15	86312497	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	929495	86312497	16218895	638	2063										
MCTP2	55784	broad.mit.edu	37	chr15	94899379	94899379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gctttagtcctctttgatacGcaacctacggctctctgagt	8	12	2	2	rs142627007	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:94899379G>A	ENST00000357742.4	+	8	1019	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	MCTP2_ENST00000557742.1_5'UTR|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.R340H|MCTP2_ENST00000451018.3_Missense_Mutation_p.R340H	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	340					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)			TCTTTGATACGCAACCTACGG	0.388													G|||	32	0.00638978	0.0242	0	5008	,	,		16257	0		0	False		,,,				2504	0					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.(1018-1020)cGc>cAc		multiple C2 domains, transmembrane 2		G	HIS/ARG,,HIS/ARG	77,4317	69.2+/-107.0	0,77,2120	133	134	134		1019,,1019	5.8	1	15	dbSNP_134	134	0,8596		0,0,4298	yes	missense,utr-5,missense	MCTP2	NM_001159643.1,NM_001159644.1,NM_018349.3	29,,29	0,77,6418	AA,AG,GG		0.0,1.7524,0.5928	benign,,benign	340/824,,340/879	94899379	77,12913	2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94899379G>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.1019G>A	15.37:g.94899379G>A	ENSP00000350377:p.Arg340His		Somatic				MCTP2_ENST00000543482.1_Missense_Mutation_p.R340H|MCTP2_ENST00000557742.1_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.R340H|MCTP2_ENST00000331706.4_5'UTR	p.R340H	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)		8	1019	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		340					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.1019G>A	CCDS32338.1	19	0.0086996336996337	19	0.03861788617886179	0	0.0	0	0.0	0	0.0	G	24.9	4.583099	0.86748	0.017524	0.0	ENSG00000140563	ENST00000543482;ENST00000451018;ENST00000357742	T;T;T	0.73258	-0.73;-0.3;-0.13	5.77	5.77	0.91146	.	0.505681	0.23258	N	0.050167	T	0.25865	0.0630	N	0.14661	0.345	0.80722	D	1	D;P;P;P	0.54047	0.964;0.528;0.722;0.871	B;B;B;B	0.42163	0.378;0.042;0.045;0.097	T	0.48547	-0.9026	10	0.27785	T	0.31	.	19.6048	0.95576	0.0:0.0:1.0:0.0	.	340;340;340;340	F5H415;Q6DN12-2;Q6DN12;B7Z6H2	.;.;MCTP2_HUMAN;.	H	340	ENSP00000438521:R340H;ENSP00000395109:R340H;ENSP00000350377:R340H	ENSP00000350377:R340H	R	+	2	0	MCTP2	92700383	1.000000	0.71417	0.997000	0.53966	0.850000	0.48378	5.791000	0.69045	2.720000	0.93068	0.557000	0.71058	CGC		0.388	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		37	75	0	0	0	1	0	37	75					A	94899379	G	A	94899379	3	1	21	1	0	0	0	0	1	0	0	0	9410	1087	38	1	1049	1	MCTP2	15	94899379	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	8586882	94899379	7632013	639	2064										
C16orf73	254528	broad.mit.edu	37	chr16	1891830	1891830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cggatccttaccatctatttCgaactacttttgtagtttca	5	10	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:1891830C>T	ENST00000397344.3	-	11	1219	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	MEIOB_ENST00000325962.3_Missense_Mutation_p.R342Q|LA16c-429E7.1_ENST00000570247.1_RNA|MEIOB_ENST00000470044.1_Missense_Mutation_p.R135Q|MEIOB_ENST00000412554.2_Missense_Mutation_p.R342Q|MEIOB_ENST00000452149.2_Missense_Mutation_p.R342Q	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	342					double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)										CCATCTATTTCGAACTACTTT	0.313																																						ENST00000412554.2																			0											c.(1024-1026)cGa>cAa		meiosis specific with OB domains							117	96	103					16																	1891830		2198	4300	6498	SO:0001583	missense	254528							g.chr16:1891830C>T	BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 73"	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683	ENST00000397344.3:c.1025G>A	16.37:g.1891830C>T	ENSP00000380504:p.Arg342Gln		Somatic				MEIOB_ENST00000470044.1_Missense_Mutation_p.R135Q|MEIOB_ENST00000452149.2_Missense_Mutation_p.R342Q|MEIOB_ENST00000325962.3_Missense_Mutation_p.R342Q|MEIOB_ENST00000397344.3_Missense_Mutation_p.R342Q|LA16c-429E7.1_ENST00000570247.1_RNA	p.R342Q	NM_001163560.2	NP_001157032.1	WXS	Illumina GAIIx	Phase_I					11	1219	-								B1AK39|C9J0S1|Q96RY0	Missense_Mutation	SNP	ENST00000397344.3	37	c.1025G>A	CCDS10449.2	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812382	0.70912	.	.	ENSG00000162039	ENST00000412554;ENST00000452149;ENST00000325962;ENST00000397344	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.24	4.28	0.50868	.	0.406135	0.26879	N	0.022034	T	0.13586	0.0329	M	0.64997	1.995	0.47621	D	0.999478	P;D	0.56968	0.927;0.978	P;P	0.44860	0.462;0.462	T	0.15435	-1.0437	10	0.12430	T	0.62	.	12.8677	0.57948	0.0:0.9207:0.0:0.0793	.	342;342	C9J0S1;Q8N635	.;CP073_HUMAN	Q	342	ENSP00000390778:R342Q;ENSP00000391033:R342Q;ENSP00000314484:R342Q;ENSP00000380504:R342Q	ENSP00000314484:R342Q	R	-	2	0	C16orf73	1831831	1.000000	0.71417	0.982000	0.44146	0.915000	0.54546	3.509000	0.53386	1.564000	0.49628	0.650000	0.86243	CGA		0.313	MEIOB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250580.1	NM_152764		13	14	0	0	0	1	0	13	14					T	1891830	C	T	1891830	3	4	21	1	0	0	0	0	1	0	0	0	1834	884	31	1	406	1	C16orf73	16	1891830	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08		1891830	88462923	640	2065										
NOXO1	124056	broad.mit.edu	37	chr16	2030447	2030447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgtcgggctccgtgccacgcGctctgcagtcgccagcagcc	13	18	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2030447G>A	ENST00000397280.4	-	4	340	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	NOXO1_ENST00000356120.4_Missense_Mutation_p.R108C|AC005606.1_ENST00000598236.1_5'Flank|NOXO1_ENST00000566005.1_Missense_Mutation_p.R112C|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000354249.4_Missense_Mutation_p.R107C			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	113	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	CGTGCCACGCGCTCTGCAGTC	0.687																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)	ENST00000354249.4																			0				lung(2)	2						c.(319-321)Cgc>Tgc		NADPH oxidase organizer 1							21	29	26					16																	2030447		2193	4289	6482	SO:0001583	missense	0				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity	g.chr16:2030447G>A	AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.337C>T	16.37:g.2030447G>A	ENSP00000380450:p.Arg113Cys		Somatic				NOXO1_ENST00000566005.1_Missense_Mutation_p.R112C|NOXO1_ENST00000397280.4_Missense_Mutation_p.R113C|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000356120.4_Missense_Mutation_p.R108C	p.R107C	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	WXS	Illumina GAIIx	Phase_I	Q8NFA2	NOXO1_HUMAN			4	688	-			113			PX.		Q86YM1|Q8NFA3|Q96B73	Missense_Mutation	SNP	ENST00000397280.4	37	c.319C>T	CCDS42101.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704770	0.68615	.	.	ENSG00000196408	ENST00000354249;ENST00000356120;ENST00000397280	T;T;T	0.69175	-0.38;1.1;1.1	5.12	1.46	0.22682	Phox homologous domain (4);	1.753860	0.02721	N	0.114008	T	0.79070	0.4384	M	0.63843	1.955	0.09310	N	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.60886	0.81;0.81;0.81;0.88	T	0.62039	-0.6938	10	0.72032	D	0.01	-0.1472	11.6532	0.51301	0.0:0.0:0.3249:0.6751	.	112;107;108;113	Q8NFA2-2;Q8NFA2-4;Q8NFA2-3;Q8NFA2	.;.;.;NOXO1_HUMAN	C	107;108;113	ENSP00000346195:R107C;ENSP00000348435:R108C;ENSP00000380450:R113C	ENSP00000346195:R107C	R	-	1	0	NOXO1	1970448	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.408000	0.21065	0.440000	0.26502	0.561000	0.74099	CGC		0.687	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250612.1			34	52	0	0	0	1	0	34	52					A	2030447	G	A	2030447	3	1	21	1	0	0	0	0	1	0	0	0	10570	1087	38	1	813	1	NOXO1	16	2030447	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	138617	2030447	88324306	641	2066										
PKD1	5310	broad.mit.edu	37	chr16	2160364	2160364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	attgaaggtgcccacggagcGgaaggtgtaagagatggtag	17	5	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2160364G>A	ENST00000262304.4	-	15	5012	c.4804C>T	c.(4804-4806)Cgc>Tgc	p.R1602C	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.R1602C	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1602	PKD 11. {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						CCCACGGAGCGGAAGGTGTAA	0.612																																						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.(4804-4806)Cgc>Tgc		polycystic kidney disease 1 (autosomal dominant)							54	55	55					16																	2160364		2196	4298	6494	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.chr16:2160364G>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.4804C>T	16.37:g.2160364G>A	ENSP00000262304:p.Arg1602Cys		Somatic				PKD1_ENST00000423118.1_Missense_Mutation_p.R1602C	p.R1602C	NM_001009944.2	NP_001009944.2	WXS	Illumina GAIIx	Phase_I	P98161	PKD1_HUMAN			15	5012	-			1602			PKD 11.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4804C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	23.5	4.426502	0.83667	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.61510	0.1;0.1	5.12	5.12	0.69794	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	0.059097	0.64402	D	0.000002	T	0.68449	0.3002	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.71477	-0.4581	10	0.62326	D	0.03	.	18.5786	0.91163	0.0:0.0:1.0:0.0	.	1602;1602	P98161-3;P98161	.;PKD1_HUMAN	C	1602	ENSP00000262304:R1602C;ENSP00000399501:R1602C	ENSP00000262304:R1602C	R	-	1	0	PKD1	2100365	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.352000	0.79404	2.403000	0.81681	0.550000	0.68814	CGC		0.612	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			43	54	0	0	0	1	0	43	54					A	2160364	G	A	2160364	3	1	21	1	0	0	0	0	1	0	0	0	11972	1116	39	1	8235	1	PKD1	16	2160364	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	129917	2160364	88194389	642	2067										
E4F1	1877	broad.mit.edu	37	chr16	2282537	2282537	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctctgtggggcctccttccgCaccaagggctcactcatccg	10	17	3	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2282537C>T	ENST00000301727.4	+	5	738	c.690C>T	c.(688-690)cgC>cgT	p.R230R	E4F1_ENST00000565090.1_Silent_p.R230R|E4F1_ENST00000564139.1_Silent_p.R230R	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	230	Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.				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						CCTCCTTCCGCACCAAGGGCT	0.692																																						ENST00000301727.4																			0				ovary(1)	1						c.(688-690)cgC>cgT		E4F transcription factor 1							34	30	31					16																	2282537		2194	4299	6493	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.chr16:2282537C>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.690C>T	16.37:g.2282537C>T			Somatic				E4F1_ENST00000564139.1_Silent_p.R230R|E4F1_ENST00000565090.1_Silent_p.R230R	p.R230R	NM_004424.3	NP_004415.2	WXS	Illumina GAIIx	Phase_I	Q66K89	E4F1_HUMAN			5	738	+			230			Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.		A8K2R4|O00146	Silent	SNP	ENST00000301727.4	37	c.690C>T	CCDS32370.1																																																																																				0.692	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		12	29	0	0	0	1	0	12	29					T	2282537	C	T	2282537	2	4	21	1	0	0	0	0	0	0	0	1	4876	697	25	3		3	E4F1	16	2282537	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	122173	2282537	88072216	643	2068										
C16orf59	80178	broad.mit.edu	37	chr16	2511156	2511156	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccccaggcctggggcgggccTcagggaccagcaaatggccc	15	16	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2511156T>G	ENST00000361837.4	+	4	601	c.536T>G	c.(535-537)cTc>cGc	p.L179R	C16orf59_ENST00000563531.1_Missense_Mutation_p.L179R|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000483320.1_Missense_Mutation_p.L12R|C16orf59_ENST00000569496.1_Missense_Mutation_p.L179R	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	179										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GGGGCGGGCCTCAGGGACCAG	0.677																																						ENST00000569496.1																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(535-537)cTc>cGc		chromosome 16 open reading frame 59							11	13	13					16																	2511156		1875	4098	5973	SO:0001583	missense	80178							g.chr16:2511156T>G	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.536T>G	16.37:g.2511156T>G	ENSP00000355022:p.Leu179Arg		Somatic				C16orf59_ENST00000361837.4_Missense_Mutation_p.L179R|C16orf59_ENST00000563531.1_Missense_Mutation_p.L179R|C16orf59_ENST00000483320.1_Missense_Mutation_p.L12R	p.L179R			WXS	Illumina GAIIx	Phase_I	Q7L2K0	CP059_HUMAN			4	595	+		Ovarian(90;0.17)	179					B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	37	c.536T>G	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	T	10.45	1.352388	0.24512	.	.	ENSG00000162062	ENST00000361837	T	0.50001	0.76	4.02	-1.02	0.10135	.	0.369123	0.19886	N	0.103854	T	0.37544	0.1007	M	0.62723	1.935	0.09310	N	1	B;P;P;P	0.35348	0.356;0.496;0.496;0.496	B;B;B;B	0.38264	0.127;0.178;0.269;0.178	T	0.37361	-0.9709	10	0.72032	D	0.01	-0.9392	0.5474	0.00656	0.1718:0.1997:0.1779:0.4506	.	12;179;12;12	Q7L2K0-3;Q7L2K0;D3DU95;Q7L2K0-2	.;CP059_HUMAN;.;.	R	179	ENSP00000355022:L179R	ENSP00000355022:L179R	L	+	2	0	C16orf59	2451157	0.001000	0.12720	0.002000	0.10522	0.027000	0.11550	-0.455000	0.06762	-0.213000	0.10094	0.533000	0.62120	CTC		0.677	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		14	24	0	0	0	1	0	14	24					G	2511156	T	G	2511156	3	3	21	1	0	0	0	0	1	0	0	0	1825	1551	54	4	550	4	C16orf59	16	2511156	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	228619	2511156	87843597	644	2069										
NTN3	4917	broad.mit.edu	37	chr16	2522735	2522735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cggccatgcccgccgctgccGcttcaacatggagctgtacc	11	17	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2522735G>A	ENST00000293973.1	+	2	1165	c.962G>A	c.(961-963)cGc>cAc	p.R321H	TBC1D24_ENST00000567020.1_5'Flank|TBC1D24_ENST00000293970.5_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	321	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CGCCGCTGCCGCTTCAACATG	0.692																																						ENST00000293973.1																			0				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						c.(961-963)cGc>cAc		netrin 3							43	52	49					16																	2522735		2158	4240	6398	SO:0001583	missense	4917				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		g.chr16:2522735G>A	U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"Netrins"	8030	protein-coding gene	gene with protein product	"Netrin-3"	602349	"netrin 2 (chicken)-like", "netrin 2-like (chicken)"	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.962G>A	16.37:g.2522735G>A	ENSP00000293973:p.Arg321His		Somatic					p.R321H	NM_006181.2	NP_006172.1	WXS	Illumina GAIIx	Phase_I	O00634	NET3_HUMAN			2	1165	+			321			Laminin EGF-like 2.			Missense_Mutation	SNP	ENST00000293973.1	37	c.962G>A	CCDS10469.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482415	0.63962	.	.	ENSG00000162068	ENST00000293973	T	0.61274	0.12	4.52	4.52	0.55395	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	L	0.38531	1.155	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.56890	-0.7904	10	0.10636	T	0.68	.	14.7499	0.69516	0.0:0.0:1.0:0.0	.	321	O00634	NET3_HUMAN	H	321	ENSP00000293973:R321H	ENSP00000293973:R321H	R	+	2	0	NTN3	2462736	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	7.804000	0.85993	2.073000	0.62155	0.305000	0.20034	CGC		0.692	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250812.1	NM_006181		61	85	0	0	0	1	0	61	85					A	2522735	G	A	2522735	3	1	21	1	0	0	0	0	1	0	0	0	10710	1087	38	1	968	1	NTN3	16	2522735	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	11579	2522735	87832018	645	2070										
KREMEN2	79412	broad.mit.edu	37	chr16	3016379	3016379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gggcacccccagccctcagcGgccccagcggcacctccacg	11	22	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:3016379G>A	ENST00000303746.5	+	4	992	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	KREMEN2_ENST00000319500.6_Missense_Mutation_p.G139S|KREMEN2_ENST00000575885.1_Missense_Mutation_p.G139S|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000576565.1_5'Flank|PAQR4_ENST00000318782.8_5'Flank|PAQR4_ENST00000293978.8_5'Flank|KREMEN2_ENST00000575769.1_Missense_Mutation_p.G139S|KREMEN2_ENST00000571007.1_Missense_Mutation_p.G139S|KREMEN2_ENST00000572045.1_Missense_Mutation_p.G139S			Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	139	WSC. {ECO:0000255|PROSITE- ProRule:PRU00558, ECO:0000305}.				Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						AGCCCTCAGCGGCCCCAGCGG	0.642																																						ENST00000572045.1																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						c.(415-417)Ggc>Agc		kringle containing transmembrane protein 2							73	82	79					16																	3016379		2198	4300	6498	SO:0001583	missense	79412				Wnt receptor signaling pathway	integral to membrane		g.chr16:3016379G>A	BC003533	CCDS10483.1, CCDS10484.1, CCDS58412.1, CCDS58413.1	16p13.11	2008-08-04			ENSG00000131650	ENSG00000131650			18797	protein-coding gene	gene with protein product		609899				12050670	Standard	NM_172229		Approved	MGC10791, KRM2	uc002csg.3	Q8NCW0	OTTHUMG00000128976	ENST00000303746.5:c.415G>A	16.37:g.3016379G>A	ENSP00000304422:p.Gly139Ser		Somatic				KREMEN2_ENST00000575769.1_Missense_Mutation_p.G139S|KREMEN2_ENST00000575885.1_Missense_Mutation_p.G139S|KREMEN2_ENST00000319500.6_Missense_Mutation_p.G139S|KREMEN2_ENST00000571007.1_Missense_Mutation_p.G139S|KREMEN2_ENST00000303746.5_Missense_Mutation_p.G139S	p.G139S	NM_172229.2	NP_757384.1	WXS	Illumina GAIIx	Phase_I	Q8NCW0	KREM2_HUMAN			4	720	+			139			WSC.		B4DXF6|I3L2S2|Q8N2J4|Q8NCW1|Q96GL8|Q9BTP9	Missense_Mutation	SNP	ENST00000303746.5	37	c.415G>A	CCDS10483.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175533	0.78564	.	.	ENSG00000131650	ENST00000303746;ENST00000319500	T;T	0.55052	0.54;0.54	4.81	4.81	0.61882	Carbohydrate-binding WSC (2);	0.000000	0.45126	D	0.000383	T	0.71074	0.3297	M	0.72118	2.19	0.58432	D	0.999999	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;0.999;1.0	T	0.74022	-0.3798	10	0.56958	D	0.05	.	15.3843	0.74684	0.0:0.0:1.0:0.0	.	139;139;139;139;139;139	B4DXF6;Q53F67;Q8NCW0-2;Q8NCW0-4;Q8NCW0-3;Q8NCW0	.;.;.;.;.;KREM2_HUMAN	S	139	ENSP00000304422:G139S;ENSP00000322079:G139S	ENSP00000304422:G139S	G	+	1	0	KREMEN2	2956380	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.113000	0.71553	2.217000	0.71921	0.462000	0.41574	GGC		0.642	KREMEN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250964.2	NM_145347		60	96	0	0	0	1	0	60	96					A	3016379	G	A	3016379	3	1	21	1	0	0	0	0	1	0	0	0	8452	1116	39	1	429	1	KREMEN2	16	3016379	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	493644	3016379	87338374	646	2071										
ROGDI	79641	broad.mit.edu	37	chr16	4848176	4848176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtcggacggcagggcaggggCgaacatccgctgcgggaggc	20	11	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:4848176C>T	ENST00000322048.7	-	8	919	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	ROGDI_ENST00000586336.1_5'UTR|RP11-127I20.5_ENST00000592465.1_RNA	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)	181					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	intracellular (GO:0005622)|nucleus (GO:0005634)				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						AGGGCAGGGGCGAACATCCGC	0.652																																						ENST00000322048.7																			0				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						c.(541-543)Gcc>Acc		rogdi homolog (Drosophila)							64	48	54					16																	4848176		2196	4300	6496	SO:0001583	missense	79641					intracellular		g.chr16:4848176C>T	AK026039	CCDS10523.1	16p13.3	2014-09-17			ENSG00000067836	ENSG00000067836			29478	protein-coding gene	gene with protein product		614574				11230166	Standard	NM_024589		Approved	FLJ22386	uc002cxv.4	Q9GZN7	OTTHUMG00000129479	ENST00000322048.7:c.541G>A	16.37:g.4848176C>T	ENSP00000322832:p.Ala181Thr		Somatic				ROGDI_ENST00000586336.1_5'UTR	p.A181T	NM_024589.2	NP_078865.1	WXS	Illumina GAIIx	Phase_I	Q9GZN7	ROGDI_HUMAN			8	919	-			181					Q6IA00	Missense_Mutation	SNP	ENST00000322048.7	37	c.541G>A	CCDS10523.1	.	.	.	.	.	.	.	.	.	.	C	1.117	-0.656440	0.03480	.	.	ENSG00000067836	ENST00000322048	T	0.41400	1.0	4.66	4.66	0.58398	.	0.251843	0.37095	N	0.002254	T	0.17831	0.0428	N	0.04508	-0.205	0.33756	D	0.621187	B	0.11235	0.004	B	0.11329	0.006	T	0.23655	-1.0182	10	0.13108	T	0.6	-26.1951	7.2647	0.26224	0.0:0.8079:0.0:0.1921	.	181	Q9GZN7	ROGDI_HUMAN	T	181	ENSP00000322832:A181T	ENSP00000322832:A181T	A	-	1	0	ROGDI	4788177	1.000000	0.71417	0.781000	0.31783	0.303000	0.27691	2.058000	0.41374	2.139000	0.66308	0.491000	0.48974	GCC		0.652	ROGDI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251643.3	NM_024589		7	25	0	0	0	1	0	7	25					T	4848176	C	T	4848176	3	4	21	1	0	0	0	0	1	0	0	0	13535	768	27	1	338	1	ROGDI	16	4848176	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1831797	4848176	85506577	647	2072										
MKL2	57496	broad.mit.edu	37	chr16	14355246	14355246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tctcagcaccaccgcgccgaGcatgttctctgctgactttc	8	16	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:14355246G>A	ENST00000341243.5	+	15	3212	c.3212G>A	c.(3211-3213)aGc>aAc	p.S1071N	MKL2_ENST00000574045.1_Missense_Mutation_p.S1032N|MKL2_ENST00000571589.1_Missense_Mutation_p.S1082N|MKL2_ENST00000318282.5_Missense_Mutation_p.S1032N			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	1071					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						ACCGCGCCGAGCATGTTCTCT	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.(3244-3246)aGc>aAc		MKL/myocardin-like 2							70	69	69					16																	14355246		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.chr16:14355246G>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.3212G>A	16.37:g.14355246G>A	ENSP00000345841:p.Ser1071Asn		Somatic				MKL2_ENST00000318282.5_Missense_Mutation_p.S1032N|MKL2_ENST00000341243.5_Missense_Mutation_p.S1071N|MKL2_ENST00000574045.1_Missense_Mutation_p.S1032N	p.S1082N	NM_014048.3	NP_054767.3	WXS	Illumina GAIIx	Phase_I	Q9ULH7	MKL2_HUMAN			17	3417	+			1071					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.3245G>A		.	.	.	.	.	.	.	.	.	.	G	14.55	2.567638	0.45798	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.72	5.72	0.89469	.	0.053454	0.85682	D	0.000000	T	0.60560	0.2278	M	0.62266	1.93	0.32750	N	0.506594	P;P	0.46142	0.682;0.873	B;P	0.46452	0.326;0.517	T	0.71974	-0.4430	9	0.87932	D	0	-4.6611	18.8414	0.92186	0.0:0.0:1.0:0.0	.	1082;1032	B4DGT8;Q9ULH7-4	.;.	N	1032;1071	.	ENSP00000339086:S1032N	S	+	2	0	MKL2	14262747	0.999000	0.42202	0.044000	0.18714	0.023000	0.10783	7.048000	0.76606	2.698000	0.92095	0.591000	0.81541	AGC		0.507	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		35	45	0	0	0	1	0	35	45					A	14355246	G	A	14355246	3	1	21	1	0	0	0	0	1	0	0	0	9611	971	34	3	3153	3	MKL2	16	14355246	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	9507070	14355246	75999507	648	2073										
XYLT1	64131	broad.mit.edu	37	chr16	17228506	17228506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtacctgcagggtagttcccGtacaggtaatagtccagctg	12	10	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:17228506G>A	ENST00000261381.6	-	9	1935	c.1851C>T	c.(1849-1851)taC>taT	p.Y617Y	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	617					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						GGTAGTTCCCGTACAGGTAAT	0.572																																						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.(1849-1851)taC>taT		xylosyltransferase I							134	131	132					16																	17228506		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17228506G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1851C>T	16.37:g.17228506G>A			Somatic				CTD-2576D5.4_ENST00000567344.1_RNA	p.Y617Y	NM_022166.3	NP_071449.1	WXS	Illumina GAIIx	Phase_I	Q86Y38	XYLT1_HUMAN			9	1935	-			617					Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.1851C>T	CCDS10569.1																																																																																				0.572	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		84	108	0	0	0	1	0	84	108					A	17228506	G	A	17228506	2	1	21	1	0	0	0	0	0	0	0	1	17478	1140	40	1		1	XYLT1	16	17228506	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2873260	17228506	73126247	649	2074										
C16orf62	57020	broad.mit.edu	37	chr16	19710892	19710894	+	In_Frame_Del	DEL	CAA	CAA	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttggcccatggggacctacgCaacaacaagctcaaccagct							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:19710892_19710894delCAA	ENST00000251143.5	+	30	2727_2729	c.2715_2717delCAA	c.(2713-2718)cgcaac>cgc	p.N907del	C16orf62_ENST00000543152.1_In_Frame_Del_p.N656del|C16orf62_ENST00000438132.3_In_Frame_Del_p.N996del|C16orf62_ENST00000448695.1_In_Frame_Del_p.N757del|C16orf62_ENST00000417362.2_In_Frame_Del_p.N814del|C16orf62_ENST00000542263.1_In_Frame_Del_p.N903del			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	907						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGGACCTACGCAACAACAAGCTC	0.596																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(2980-2985)cgc>cg		chromosome 16 open reading frame 62																																				SO:0001651	inframe_deletion	57020					integral to membrane		g.chr16:19710892_19710894delCAA		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2715_2717delCAA	16.37:g.19710898_19710900delCAA	ENSP00000251143:p.Asn907del		Somatic				C16orf62_ENST00000543152.1_In_Frame_Del_p.RN654del|C16orf62_ENST00000542263.1_In_Frame_Del_p.RN901del|C16orf62_ENST00000448695.1_In_Frame_Del_p.RN755del|C16orf62_ENST00000417362.2_In_Frame_Del_p.RN812del|C16orf62_ENST00000251143.5_In_Frame_Del_p.RN905del	p.RN994del	NM_020314.5	NP_064710.4	WXS	Illumina GAIIx	Phase_I	Q7Z3J2	CP062_HUMAN			30	3030_3032	+			905					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	In_Frame_Del	DEL	ENST00000251143.5	37	c.2982_2984delCAA																																																																																					0.596	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		36	70						36	70	---	---	---	---	-	19710894	CAA	-	19710892	7	5	21	1	0	1	0	1	0	0	0	0	1827	697	25	0	2833	0	C16orf62	16	19710892	In_Frame_Del	DEL	CAA	TCGA-N7-A4Y0-01A-12D-A28R-08	2482386	19710892	70643861	650	2075										
GP2	2813	broad.mit.edu	37	chr16	20335435	20335435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atcgcacccctgggaccctgCtgagttctctgtgcttcgga	11	14	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:20335435C>T	ENST00000381362.4	-	3	314	c.238G>A	c.(238-240)Gca>Aca	p.A80T	GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000302555.5_Missense_Mutation_p.A80T|GP2_ENST00000573897.1_5'Flank	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	80					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						TGGGACCCTGCTGAGTTCTCT	0.572																																						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.(238-240)Gca>Aca		glycoprotein 2 (zymogen granule membrane)							69	62	64					16																	20335435		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20335435C>T	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.238G>A	16.37:g.20335435C>T	ENSP00000370767:p.Ala80Thr		Somatic				GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.A80T	p.A80T			WXS	Illumina GAIIx	Phase_I	P55259	GP2_HUMAN			3	387	-			80					A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.238G>A	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	7.528	0.658095	0.14645	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.98717	-5.09;-5.09	5.03	1.81	0.25067	.	.	.	.	.	D	0.92573	0.7641	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.15870	0.014;0.001	D	0.86042	0.1520	9	0.15499	T	0.54	0.7451	1.3208	0.02116	0.1787:0.4532:0.1727:0.1954	.	80;80	P55259-3;P55259	.;GP2_HUMAN	T	80	ENSP00000304044:A80T;ENSP00000370767:A80T	ENSP00000304044:A80T	A	-	1	0	GP2	20242936	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.020000	0.13466	0.693000	0.31634	-0.165000	0.13383	GCA		0.572	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		37	45	0	0	0	1	0	37	45					T	20335435	C	T	20335435	3	4	21	1	0	0	0	0	1	0	0	0	6590	797	28	3	1415	3	GP2	16	20335435	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	624543	20335435	70019318	651	2076										
DNAH3	55567	broad.mit.edu	37	chr16	20974801	20974801	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gatcaccatcttctccaatcCttgagagaacttccaagacc	5	14	3	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:20974801C>A	ENST00000261383.3	-	53	10404	c.10405G>T	c.(10405-10407)Gga>Tga	p.G3469*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3469					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)		TTCTCCAATCCTTGAGAGAAC	0.512																																						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.(10405-10407)Gga>Tga		dynein, axonemal, heavy chain 3							90	74	80					16																	20974801		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.chr16:20974801C>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.10405G>T	16.37:g.20974801C>A	ENSP00000261383:p.Gly3469*		Somatic				DNAH3_ENST00000415178.1_3'UTR	p.G3469*	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	10404	-			3469					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	c.10405G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	49	15.176001	0.99825	.	.	ENSG00000158486	ENST00000261383	.	.	.	5.39	3.39	0.38822	.	0.203178	0.41712	D	0.000824	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	12.1126	0.53848	0.0:0.8577:0.0:0.1423	.	.	.	.	X	3469	.	ENSP00000261383:G3469X	G	-	1	0	DNAH3	20882302	0.399000	0.25287	0.025000	0.17156	0.200000	0.23975	3.203000	0.51075	0.613000	0.30089	0.563000	0.77884	GGA		0.512	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		18	29	1	0	1.67942e-08	1	1.76178e-08	18	29					A	20974801	C	A	20974801	4	1	21	1	0	0	0	0	0	1	0	0	4605	690	24	5	1984	5	DNAH3	16	20974801	Nonsense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	639366	20974801	69379952	652	2077										
ERN2	10595	broad.mit.edu	37	chr16	23711986	23711986	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agcaaagtctgcaggtgccaGgggggtctcctgctgcttct							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:23711986delG	ENST00000457008.2	-	12	1281	c.1243delC	c.(1243-1245)ctgfs	p.L415fs	ERN2_ENST00000256797.4_Frame_Shift_Del_p.L515fs					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCAGGTGCCAGGGGGGTCTCC	0.627																																						ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(1543-1545)tgfs		endoplasmic reticulum to nucleus signaling 2				0,0,4264		0,0,0,0,0,2132	59	60	60			-0.9	0	16		61	1,2,8249		0,0,1,0,2,4123	no	codingComplex	ERN2	NM_033266.3		0,0,1,0,2,6255	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0364,0.0,0.024			23711986	1,2,12513	2197	4300	6497	SO:0001589	frameshift_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.chr16:23711986delG	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.1243delC	16.37:g.23711986delG	ENSP00000413812:p.Leu415fs		Somatic				ERN2_ENST00000457008.2_Frame_Shift_Del_p.L415fs	p.L515fs	NM_033266.3	NP_150296.3	WXS	Illumina GAIIx	Phase_I	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	13	1711	-			467						Frame_Shift_Del	DEL	ENST00000457008.2	37	c.1543delC																																																																																					0.627	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			38	64						38	64	---	---	---	---	-	23711986	G	-	23711986	7	5	21	1	0	1	0	1	0	0	0	0	5240	991	35	0	1421	0	ERN2	16	23711986	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2737185	23711986	66642767	653	2078										
GTF3C1	2975	broad.mit.edu	37	chr16	27475772	27475772	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cagcggtgtcttcaagagctGggggtggagatggggcctgg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:27475772delG	ENST00000356183.4	-	34	5756	c.5741delC	c.(5740-5742)ccafs	p.P1914fs	GTF3C1_ENST00000561623.1_Frame_Shift_Del_p.P1914fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1914					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						TTCAAGAGCTGGGGGTGGAGA	0.652																																						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.(5740-5742)cafs		general transcription factor IIIC, polypeptide 1, alpha 220kDa							80	90	86					16																	27475772		2197	4300	6497	SO:0001589	frameshift_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27475772delG	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.5741delC	16.37:g.27475772delG	ENSP00000348510:p.Pro1914fs		Somatic				GTF3C1_ENST00000561623.1_Frame_Shift_Del_p.P1914fs	p.P1914fs	NM_001520.3	NP_001511.2	WXS	Illumina GAIIx	Phase_I	Q12789	TF3C1_HUMAN			34	5756	-			1914					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Frame_Shift_Del	DEL	ENST00000356183.4	37	c.5741delC	CCDS32414.1																																																																																				0.652	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		88	169						88	169	---	---	---	---	-	27475772	G	-	27475772	7	5	21	1	0	1	0	1	0	0	0	0	6881	1348	47	0	604	0	GTF3C1	16	27475772	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3763786	27475772	62878981	654	2079										
ASPHD1	253982	broad.mit.edu	37	chr16	29912571	29912571	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctcacttccctgttcctctgGtactgctaccgcctgggctc	8	17	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:29912571G>A	ENST00000308748.5	+	1	531	c.279G>A	c.(277-279)tgG>tgA	p.W93*	SEZ6L2_ENST00000308713.5_5'Flank|SEZ6L2_ENST00000350527.3_5'Flank|SEZ6L2_ENST00000537485.1_5'Flank|ASPHD1_ENST00000483405.1_Intron|SEZ6L2_ENST00000346932.5_5'Flank	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	93					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TGTTCCTCTGGTACTGCTACC	0.682																																						ENST00000308748.5																			0				endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						c.(277-279)tgG>tgA		aspartate beta-hydroxylase domain containing 1							53	58	57					16																	29912571		2195	4299	6494	SO:0001587	stop_gained	253982				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr16:29912571G>A	AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.279G>A	16.37:g.29912571G>A	ENSP00000311447:p.Trp93*		Somatic				ASPHD1_ENST00000483405.1_Intron	p.W93*	NM_181718.3	NP_859069.2	WXS	Illumina GAIIx	Phase_I	Q5U4P2	ASPH1_HUMAN			1	531	+			93					A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Nonsense_Mutation	SNP	ENST00000308748.5	37	c.279G>A	CCDS10660.1	.	.	.	.	.	.	.	.	.	.	G	37	6.147614	0.97324	.	.	ENSG00000174939	ENST00000414952;ENST00000308748	.	.	.	4.81	3.83	0.44106	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.349	6.7722	0.23601	0.1873:0.0:0.8127:0.0	.	.	.	.	X	93	.	ENSP00000311447:W93X	W	+	3	0	ASPHD1	29820072	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.188000	0.72045	2.374000	0.81015	0.462000	0.41574	TGG		0.682	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255163.2	NM_181718		55	83	0	0	0	1	0	55	83					A	29912571	G	A	29912571	4	1	21	1	0	0	0	0	0	1	0	0	1054	1270	44	3	281	3	ASPHD1	16	29912571	Nonsense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2436799	29912571	60442182	655	2080										
CD2BP2	10421	broad.mit.edu	37	chr16	30364763	30364763	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgaacatgtccagggagggtGggggtgtgggattgtggggt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:30364763delG	ENST00000305596.3	-	5	909	c.734delC	c.(733-735)ccafs	p.P246fs	CD2BP2_ENST00000569466.1_Frame_Shift_Del_p.P246fs|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	246					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CAGGGAGGGTGGGGGTGTGGG	0.612																																						ENST00000305596.3																			0				breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(733-735)cafs		CD2 (cytoplasmic tail) binding protein 2							56	57	57					16																	30364763		2197	4300	6497	SO:0001589	frameshift_variant	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30364763delG	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 59"	604470	"CD2 antigen (cytoplasmic tail)-binding protein 2"			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.734delC	16.37:g.30364763delG	ENSP00000304903:p.Pro246fs		Somatic				CD2BP2_ENST00000569466.1_Frame_Shift_Del_p.P246fs	p.P246fs	NM_006110.2	NP_006101.1	WXS	Illumina GAIIx	Phase_I	O95400	CD2B2_HUMAN			5	909	-			246					B2RDX2|Q9ULP2	Frame_Shift_Del	DEL	ENST00000305596.3	37	c.734delC	CCDS10675.1																																																																																				0.612	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		35	75						35	75	---	---	---	---	-	30364763	G	-	30364763	7	5	21	1	0	1	0	1	0	0	0	0	2997	1348	47	0	303	0	CD2BP2	16	30364763	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	452192	30364763	59989990	656	2081										
ZNF785	146540	broad.mit.edu	37	chr16	30594122	30594122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgcgccggtgactgaggaggAgggaagaataggtgaagcgg	20	5	0	4			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:30594122A>G	ENST00000395216.2	-	3	1136	c.977T>C	c.(976-978)cTc>cCc	p.L326P	AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.L311P|AC002310.7_ENST00000492040.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						ACTGAGGAGGAGGGAAGAATA	0.647																																						ENST00000395216.2																			0				endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(976-978)cTc>cCc		zinc finger protein 785							53	60	58					16																	30594122		2197	4300	6497	SO:0001583	missense	146540				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30594122A>G	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"Zinc fingers, C2H2-type", "-"	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.977T>C	16.37:g.30594122A>G	ENSP00000378642:p.Leu326Pro		Somatic				AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.L311P	p.L326P	NM_152458.6	NP_689671.2	WXS	Illumina GAIIx	Phase_I	A8K8V0	ZN785_HUMAN			3	1136	-			326					O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000395216.2	37	c.977T>C	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	a	12.18	1.860408	0.32884	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	T;T	0.61158	0.13;0.13	3.7	-2.03	0.07365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50411	0.1614	L	0.45698	1.435	0.21386	N	0.999706	B;P;B	0.40515	0.03;0.719;0.05	B;P;B	0.48304	0.015;0.573;0.033	T	0.42865	-0.9426	9	0.30854	T	0.27	.	2.8737	0.05625	0.2659:0.4823:0.1029:0.149	.	291;326;311	B4DQL1;A8K8V0;A8K8V0-2	.;ZN785_HUMAN;.	P	311;291;326	ENSP00000420340:L311P;ENSP00000378642:L326P	ENSP00000378642:L326P	L	-	2	0	ZNF785	30501623	0.000000	0.05858	0.059000	0.19551	0.578000	0.36192	-1.370000	0.02575	-0.657000	0.05373	0.372000	0.22366	CTC		0.647	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		42	61	0	0	0	1	0	42	61					G	30594122	A	G	30594122	3	3	21	1	0	0	0	0	1	0	0	0	18172	304	11	4	244	4	ZNF785	16	30594122	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	229359	30594122	59760631	657	2082										
ITGAX	3687	broad.mit.edu	37	chr16	31382762	31382762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggtctctgagcagaccctggTacagtccaacatctgccttt	9	13	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:31382762T>C	ENST00000268296.4	+	16	2070	c.1949T>C	c.(1948-1950)gTa>gCa	p.V650A	ITGAX_ENST00000562522.1_Missense_Mutation_p.V650A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	650					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						CAGACCCTGGTACAGTCCAAC	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.(1948-1950)gTa>gCa		integrin, alpha X (complement component 3 receptor 4 subunit)							90	68	75					16																	31382762		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.chr16:31382762T>C	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.1949T>C	16.37:g.31382762T>C	ENSP00000268296:p.Val650Ala		Somatic				ITGAX_ENST00000562522.1_Missense_Mutation_p.V650A	p.V650A	NM_000887.3	NP_000878.2	WXS	Illumina GAIIx	Phase_I	P20702	ITAX_HUMAN			16	2070	+			650					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1949T>C	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	t	8.494	0.862729	0.17178	.	.	ENSG00000140678	ENST00000268296	T	0.50001	0.76	5.08	2.01	0.26516	Integrin alpha-2 (1);	.	.	.	.	T	0.20536	0.0494	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.18461	-1.0336	9	0.36615	T	0.2	.	6.4	0.21632	0.086:0.0:0.5904:0.3236	.	650	P20702	ITAX_HUMAN	A	650	ENSP00000268296:V650A	ENSP00000268296:V650A	V	+	2	0	ITGAX	31290263	0.238000	0.23825	0.001000	0.08648	0.000000	0.00434	0.786000	0.26844	0.245000	0.21373	-0.784000	0.03344	GTA		0.582	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		41	38	0	0	0	1	0	41	38					C	31382762	T	C	31382762	3	2	21	1	0	0	0	0	1	0	0	0	7898	1638	57	4	2011	4	ITGAX	16	31382762	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	788640	31382762	58971991	658	2083										
CNGB1	1258	broad.mit.edu	37	chr16	57918264	57918264	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccgggggctcggggggcgtcCggggcgcgggtgggtcggtg	26	10	0	0	rs543712958	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:57918264C>T	ENST00000251102.8	-	33	3620	c.3560G>A	c.(3559-3561)cGg>cAg	p.R1187Q	CNGB1_ENST00000564448.1_Missense_Mutation_p.R1181Q	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1187					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						GGGGGGCGTCCGGGGCGCGGG	0.741													C|||	9	0.00179712	0	0	5008	,	,		8868	0		0	False		,,,				2504	0.0092				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.(3541-3543)cGg>cAg		cyclic nucleotide gated channel beta 1							11	14	13					16																	57918264		1773	3907	5680	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57918264C>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.3560G>A	16.37:g.57918264C>T	ENSP00000251102:p.Arg1187Gln		Somatic				CNGB1_ENST00000251102.8_Missense_Mutation_p.R1187Q	p.R1181Q			WXS	Illumina GAIIx	Phase_I	Q14028	CNGB1_HUMAN			33	3602	-			1187					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.3542G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	1.992	-0.431459	0.04669	.	.	ENSG00000070729	ENST00000251102	D	0.96396	-4.0	2.74	-4.0	0.04057	.	1.022700	0.07867	N	0.967290	D	0.87034	0.6077	N	0.08118	0	0.18873	N	0.999983	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.78145	-0.2318	10	0.13853	T	0.58	.	5.7555	0.18170	0.0:0.313:0.2121:0.475	.	559;1187	Q14028-2;Q14028	.;CNGB1_HUMAN	Q	1187	ENSP00000251102:R1187Q	ENSP00000251102:R1187Q	R	-	2	0	CNGB1	56475765	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.720000	0.04969	-0.839000	0.04212	-2.538000	0.00180	CGG		0.741	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		19	35	0	0	0	1	0	19	35					T	57918264	C	T	57918264	3	4	21	1	0	0	0	0	1	0	0	0	3602	652	23	1	199	1	CNGB1	16	57918264	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	26535502	57918264	32436489	659	2084										
KIAA0895L	653319	broad.mit.edu	37	chr16	67212216	67212216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gagctgacggaaggacatgcGcgcggcgcggtggatggtgt	20	8	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67212216G>A	ENST00000290881.7	-	6	1965	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	KIAA0895L_ENST00000563831.2_5'UTR|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R347C|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R347C			Q68EN5	K895L_HUMAN	KIAA0895-like	347										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						AAGGACATGCGCGCGGCGCGG	0.682																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(1039-1041)Cgc>Tgc		KIAA0895-like							11	13	12					16																	67212216		2088	4210	6298	SO:0001583	missense	653319							g.chr16:67212216G>A	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.1039C>T	16.37:g.67212216G>A	ENSP00000290881:p.Arg347Cys		Somatic				KIAA0895L_ENST00000563831.2_5'UTR|KIAA0895L_ENST00000561679.1_Missense_Mutation_p.R192C|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R347C|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R347C	p.R347C			WXS	Illumina GAIIx	Phase_I	Q68EN5	K895L_HUMAN			6	1965	-			347					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	c.1039C>T	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058153	0.36277	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.73	1.6	0.23607	.	0.644929	0.17102	N	0.186949	T	0.22044	0.0531	L	0.34521	1.04	0.09310	N	1	D;B;B	0.54964	0.969;0.008;0.015	P;B;B	0.46975	0.533;0.009;0.003	T	0.11891	-1.0569	9	0.52906	T	0.07	-2.3956	1.7714	0.03012	0.1822:0.1615:0.4901:0.1662	.	347;347;192	Q68EN5-2;Q68EN5;Q68EN5-3	.;K895L_HUMAN;.	C	347	.	ENSP00000290881:R347C	R	-	1	0	KIAA0895L	65769717	0.010000	0.17322	0.002000	0.10522	0.842000	0.47809	1.791000	0.38744	0.281000	0.22233	-0.237000	0.12165	CGC		0.682	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		13	8	0	0	0	1	0	13	8					A	67212216	G	A	67212216	3	1	21	1	0	0	0	0	1	0	0	0	8207	1087	38	1	388	1	KIAA0895L	16	67212216	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	9293952	67212216	23142537	660	2085										
CTCF	10664	broad.mit.edu	37	chr16	67650654	67650654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	catcctttctctaggtactcGtcctcacaagtgcccagact	6	15	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67650654G>A	ENST00000264010.4	+	5	1403	c.959G>A	c.(958-960)cGt>cAt	p.R320H	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_5'UTR	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	320					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CTAGGTACTCGTCCTCACAAG	0.488																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(958-960)cGt>cAt		CCCTC-binding factor (zinc finger protein)							263	228	240					16																	67650654		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67650654G>A	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.959G>A	16.37:g.67650654G>A	ENSP00000264010:p.Arg320His		Somatic				CTCF_ENST00000401394.1_5'UTR	p.R320H	NM_006565.3	NP_006556.1	WXS	Illumina GAIIx	Phase_I	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	5	1403	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	320					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.959G>A	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052912	0.75960	.	.	ENSG00000102974	ENST00000264010	T	0.20332	2.08	4.89	4.89	0.63831	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.082997	0.51477	D	0.000085	T	0.50326	0.1609	M	0.85777	2.775	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.57911	-0.7729	10	0.62326	D	0.03	.	18.2991	0.90157	0.0:0.0:1.0:0.0	.	320	P49711	CTCF_HUMAN	H	320	ENSP00000264010:R320H	ENSP00000264010:R320H	R	+	2	0	CTCF	66208155	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.602000	0.82796	2.553000	0.86117	0.555000	0.69702	CGT		0.488	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		104	124	0	0	0	1	0	104	124					A	67650654	G	A	67650654	3	1	21	1	0	0	0	0	1	0	0	0	4002	1145	40	1	969	1	CTCF	16	67650654	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	438438	67650654	22704099	661	2086										
GFOD2	81577	broad.mit.edu	37	chr16	67709560	67709560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggaagaaacagaagtcatcgCtagtgacgtgccggatgcca	13	9	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67709560C>T	ENST00000268797.7	-	3	1001	c.656G>A	c.(655-657)aGc>aAc	p.S219N	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	219					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GAAGTCATCGCTAGTGACGTG	0.577																																						ENST00000268797.7																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(655-657)aGc>aAc		glucose-fructose oxidoreductase domain containing 2							80	69	73					16																	67709560		2198	4300	6498	SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709560C>T	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.656G>A	16.37:g.67709560C>T	ENSP00000268797:p.Ser219Asn		Somatic				GFOD2_ENST00000602377.1_5'UTR	p.S219N	NM_030819.3	NP_110446.3	WXS	Illumina GAIIx	Phase_I	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	1001	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	219					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	c.656G>A	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615240	0.87359	.	.	ENSG00000141098	ENST00000268797	T	0.42513	0.97	5.28	5.28	0.74379	.	0.124708	0.64402	D	0.000001	T	0.63792	0.2541	M	0.80422	2.495	0.45025	D	0.998045	P	0.51653	0.947	P	0.58820	0.846	T	0.62001	-0.6946	10	0.32370	T	0.25	-25.723	18.8749	0.92331	0.0:1.0:0.0:0.0	.	219	Q3B7J2	GFOD2_HUMAN	N	219	ENSP00000268797:S219N	ENSP00000268797:S219N	S	-	2	0	GFOD2	66267061	1.000000	0.71417	0.992000	0.48379	0.947000	0.59692	5.941000	0.70195	2.625000	0.88918	0.557000	0.71058	AGC		0.577	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		31	29	0	0	0	1	0	31	29					T	67709560	C	T	67709560	3	4	21	1	0	0	0	0	1	0	0	0	6352	797	28	3	505	3	GFOD2	16	67709560	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	58906	67709560	22645193	662	2087										
CENPT	80152	broad.mit.edu	37	chr16	67863714	67863714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cctgaagatgctcctggcccGtcagcctcagcagtcccctg	10	17	2	2	rs374799764		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67863714G>A	ENST00000562787.1	-	12	1688	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000219172.3_Silent_p.D380D|CENPT_ENST00000440851.2_Silent_p.D380D|CENPT_ENST00000564817.1_Intron	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	380	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)		CTCCTGGCCCGTCAGCCTCAG	0.612													G|||	1	0.000199681	0	0	5008	,	,		19142	0.001		0	False		,,,				2504	0					ENST00000562787.1																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(1138-1140)gaC>gaT		centromere protein T		G		2,4240		0,2,2119	150	161	157		1140	2.6	0	16		157	0,8474		0,0,4237	no	coding-synonymous	CENPT	NM_025082.3		0,2,6356	AA,AG,GG		0.0,0.0471,0.0157		380/562	67863714	2,12714	2121	4237	6358	SO:0001819	synonymous_variant	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67863714G>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.1140C>T	16.37:g.67863714G>A			Somatic				CENPT_ENST00000219172.3_Silent_p.D380D|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000440851.2_Silent_p.D380D	p.D380D	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)	12	1688	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	380					Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	ENST00000562787.1	37	c.1140C>T	CCDS42182.1																																																																																				0.612	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		72	82	0	0	0	1	0	72	82					A	67863714	G	A	67863714	2	1	21	1	0	0	0	0	0	0	0	1	3244	1136	40	1		1	CENPT	16	67863714	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	154154	67863714	22491039	663	2088										
SLC12A4	6560	broad.mit.edu	37	chr16	67985067	67985067	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tacagaagggaagaagatgcCgaccagcacggtgaaggatg	15	7	0	4			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67985067C>T	ENST00000316341.3	-	9	1413	c.1273G>A	c.(1273-1275)Ggc>Agc	p.G425S	SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000422611.2_Missense_Mutation_p.G427S|SLC12A4_ENST00000576616.1_Missense_Mutation_p.G425S|SLC12A4_ENST00000572037.1_Missense_Mutation_p.G377S|SLC12A4_ENST00000537830.2_Missense_Mutation_p.G419S|SLC12A4_ENST00000541864.2_Missense_Mutation_p.G394S|SLC12A4_ENST00000338335.3_Missense_Mutation_p.G425S	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	425					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)	AAGAAGATGCCGACCAGCACG	0.622																																						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.(1279-1281)Ggc>Agc		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						173	151	158					16																	67985067		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.chr16:67985067C>T		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.1273G>A	16.37:g.67985067C>T	ENSP00000318557:p.Gly425Ser		Somatic				SLC12A4_ENST00000576616.1_Missense_Mutation_p.G425S|SLC12A4_ENST00000338335.3_Missense_Mutation_p.G425S|SLC12A4_ENST00000541864.2_Missense_Mutation_p.G394S|SLC12A4_ENST00000537830.2_Missense_Mutation_p.G419S|SLC12A4_ENST00000572037.1_Missense_Mutation_p.G377S|SLC12A4_ENST00000316341.3_Missense_Mutation_p.G425S	p.G427S	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)	8	1318	-		Ovarian(137;0.192)	425					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.1279G>A	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289302	0.95517	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98	5.11	5.11	0.69529	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	L	0.60904	1.88	0.80722	D	1	P;D;D;D;D;D	0.89917	0.931;0.998;1.0;0.994;0.994;0.995	P;D;D;P;P;P	0.97110	0.638;0.925;1.0;0.823;0.823;0.889	D	0.99891	1.1135	10	0.72032	D	0.01	.	18.8996	0.92437	0.0:1.0:0.0:0.0	.	427;425;394;419;425;425	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	S	427;394;419;425;425	ENSP00000395983:G427S;ENSP00000438334:G394S;ENSP00000445962:G419S;ENSP00000343374:G425S;ENSP00000318557:G425S	ENSP00000318557:G425S	G	-	1	0	SLC12A4	66542568	1.000000	0.71417	0.986000	0.45419	0.903000	0.53119	6.035000	0.70940	2.541000	0.85698	0.561000	0.74099	GGC		0.622	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		72	108	0	0	0	1	0	72	108					T	67985067	C	T	67985067	3	4	21	1	0	0	0	0	1	0	0	0	14400	652	23	1	2048	1	SLC12A4	16	67985067	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	121353	67985067	22369686	664	2089										
NFAT5	10725	broad.mit.edu	37	chr16	69726657	69726657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtgaattgttttcttctcctCctgcagtttctggaaatgaa	8	8	3	2	rs369476982		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:69726657C>T	ENST00000354436.2	+	12	3193	c.2875C>T	c.(2875-2877)Cct>Tct	p.P959S	NFAT5_ENST00000567239.1_Missense_Mutation_p.P976S|NFAT5_ENST00000432919.1_Missense_Mutation_p.P977S|NFAT5_ENST00000566899.1_Missense_Mutation_p.P883S|NFAT5_ENST00000393742.2_Missense_Mutation_p.P883S|NFAT5_ENST00000349945.1_Missense_Mutation_p.P883S	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	959					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTCTTCTCCTCCTGCAGTTTC	0.448																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2647-2649)Cct>Tct		nuclear factor of activated T-cells 5, tonicity-responsive		C	SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO	0,4396		0,0,2198	124	106	112		2926,2875,2929,2647,2647	4.5	1	16		112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NFAT5	NM_001113178.2,NM_006599.3,NM_138713.3,NM_138714.3,NM_173214.2	74,74,74,74,74	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	976/1549,959/1532,977/1550,883/1456,883/1456	69726657	1,12995	2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726657C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2875C>T	16.37:g.69726657C>T	ENSP00000346420:p.Pro959Ser		Somatic				NFAT5_ENST00000393742.2_Missense_Mutation_p.P883S|NFAT5_ENST00000567239.1_Missense_Mutation_p.P976S|NFAT5_ENST00000354436.2_Missense_Mutation_p.P959S|NFAT5_ENST00000566899.1_Missense_Mutation_p.P883S|NFAT5_ENST00000432919.1_Missense_Mutation_p.P977S	p.P883S	NM_138714.3	NP_619728.2	WXS	Illumina GAIIx	Phase_I	O94916	NFAT5_HUMAN			14	4199	+			959			Poly-Gln.		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.2647C>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	6.409	0.443509	0.12164	0.0	1.16E-4	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.49	4.54	0.55810	.	0.192835	0.46758	D	0.000269	T	0.35335	0.0928	L	0.51422	1.61	0.38215	D	0.940595	B;B;B	0.18610	0.029;0.012;0.0	B;B;B	0.18871	0.023;0.009;0.001	T	0.22626	-1.0211	10	0.16420	T	0.52	-3.4444	12.1136	0.53854	0.0:0.9205:0.0:0.0795	.	976;959;977	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	S	977;976;883;959;883	ENSP00000396538:P977S;ENSP00000338806:P883S;ENSP00000346420:P959S;ENSP00000377343:P883S	ENSP00000338806:P883S	P	+	1	0	NFAT5	68284158	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	1.447000	0.35101	1.448000	0.47680	0.655000	0.94253	CCT		0.448	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		38	54	0	0	0	1	0	38	54					T	69726657	C	T	69726657	3	4	21	1	0	0	0	0	1	0	0	0	10369	855	30	3	2979	3	NFAT5	16	69726657	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1741590	69726657	20628096	665	2090										
PDPR	55066	broad.mit.edu	37	chr16	70190614	70190614	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cacaatttttctgaggacacGggggaagagcaagtggtgac							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:70190614delG	ENST00000288050.4	+	19	3429	c.2472delG	c.(2470-2472)acgfs	p.T824fs	RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000567046.1_Frame_Shift_Del_p.T182fs|PDPR_ENST00000398122.3_Frame_Shift_Del_p.T724fs|PDPR_ENST00000568530.1_Frame_Shift_Del_p.T824fs|PDPR_ENST00000542659.1_Frame_Shift_Del_p.T169fs|RP11-296I10.3_ENST00000502126.1_RNA	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	824					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)		CTGAGGACACGGGGGAAGAGC	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.(2470-2472)acfs		pyruvate dehydrogenase phosphatase regulatory subunit							131	149	143					16																	70190614		2070	4224	6294	SO:0001589	frameshift_variant	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70190614delG		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.2472delG	16.37:g.70190614delG	ENSP00000288050:p.Thr824fs		Somatic				PDPR_ENST00000398122.3_Frame_Shift_Del_p.T724fs|PDPR_ENST00000568530.1_Frame_Shift_Del_p.T824fs|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000542659.1_Frame_Shift_Del_p.T169fs|PDPR_ENST00000567046.1_Frame_Shift_Del_p.T182fs|PDPR_ENST00000562100.1_3'UTR	p.T824fs	NM_017990.3	NP_060460.4	WXS	Illumina GAIIx	Phase_I	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	19	3429	+			824					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Frame_Shift_Del	DEL	ENST00000288050.4	37	c.2472delG	CCDS45520.1																																																																																				0.557	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		26	122						26	122	---	---	---	---	-	70190614	G	-	70190614	7	5	21	1	0	1	0	1	0	0	0	0	11698	1103	39	0	2538	0	PDPR	16	70190614	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	463957	70190614	20164139	666	2091										
AARS	118460	broad.mit.edu	37	chr16	70288530	70288530	+	5'Flank	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaagccgcccctacctctccAaggtcagcgatctccctctg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:70288530delA	ENST00000435634.1	-	0	0				AARS_ENST00000564359.1_5'Flank|AARS_ENST00000261772.8_Frame_Shift_Del_p.L798fs	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)										CTACCTCTCCAAGGTCAGCGA	0.547																																						ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(2392-2394)ctfs		alanyl-tRNA synthetase	L-Alanine(DB00160)						145	107	120					16																	70288530		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.chr16:70288530delA	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.70288530delA	Exception_encountered		Somatic					p.L798fs	NM_001605.2	NP_001596.2	WXS	Illumina GAIIx	Phase_I	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	17	2537	-		Ovarian(137;0.0365)	798						Frame_Shift_Del	DEL	ENST00000435634.1	37	c.2394delT	CCDS10887.1																																																																																				0.547	EXOSC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268966.1	NM_058219		21	43						21	43	---	---	---	---	-	70288530	A	-	70288530	6	5	21	0	1	1	0	1	0	0	0	0	19	117	5	0		0	AARS	16	70288530	5'Flank	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	97916	70288530	20066223	667	2092										
MTSS1L	92154	broad.mit.edu	37	chr16	70698625	70698625	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctcaggccccgcgtcagcacCatggccaggtcactggcggc	13	17	3	0	rs139508787		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:70698625C>A	ENST00000338779.6	-	14	1621	c.1347G>T	c.(1345-1347)atG>atT	p.M449I	FLJ00418_ENST00000597002.1_De_novo_Start_InFrame	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	449					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						GCGTCAGCACCATGGCCAGGT	0.667																																						ENST00000338779.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						c.(1345-1347)atG>atT		metastasis suppressor 1-like							37	32	34					16																	70698625		2198	4300	6498	SO:0001583	missense	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70698625C>A		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"actin-bundling protein with BAIAP2 homology"					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1347G>T	16.37:g.70698625C>A	ENSP00000341171:p.Met449Ile		Somatic				FLJ00418_ENST00000597002.1_De_novo_Start_InFrame	p.M449I	NM_138383.2	NP_612392.1	WXS	Illumina GAIIx	Phase_I	Q765P7	MTSSL_HUMAN			14	1621	-			449					A6NJI7|Q9BUA8	Missense_Mutation	SNP	ENST00000338779.6	37	c.1347G>T	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789899	0.50102	.	.	ENSG00000132613	ENST00000338779	T	0.31247	1.5	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.33440	0.0863	M	0.63428	1.95	0.53005	D	0.999963	B	0.22909	0.077	B	0.23150	0.044	T	0.12218	-1.0556	10	0.21014	T	0.42	-30.4334	17.6541	0.88173	0.0:1.0:0.0:0.0	.	449	Q765P7	MTSSL_HUMAN	I	449	ENSP00000341171:M449I	ENSP00000341171:M449I	M	-	3	0	MTSS1L	69256126	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	6.061000	0.71148	2.245000	0.73994	0.462000	0.41574	ATG		0.667	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		10	19	1	0	6.40141e-05	1	6.54317e-05	10	19					A	70698625	C	A	70698625	3	1	21	1	0	0	0	0	1	0	0	0	9972	594	21	5	904	5	MTSS1L	16	70698625	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	410095	70698625	19656128	668	2093										
ZFHX3	463	broad.mit.edu	37	chr16	72822572	72822572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgcacctgtggttgctgctgCtgctgctgctgctggggggg	18	10	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:72822572C>T	ENST00000268489.5	-	10	10275	c.9603G>A	c.(9601-9603)caG>caA	p.Q3201Q	RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Silent_p.Q2287Q|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3201	Poly-Gln.				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)				gttgctgctgctgctgctgct	0.652																																						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.(9601-9603)caG>caA		zinc finger homeobox 3							59	68	65					16																	72822572		2197	4298	6495	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822572C>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.9603G>A	16.37:g.72822572C>T			Somatic				ZFHX3_ENST00000397992.5_Silent_p.Q2287Q	p.Q3201Q	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			10	10275	-		Ovarian(137;0.13)	3201			Poly-Gln.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.9603G>A	CCDS10908.1																																																																																				0.652	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		89	117	0	0	0	1	0	89	117					T	72822572	C	T	72822572	2	4	21	1	0	0	0	0	0	0	0	1	17649	796	28	3		3	ZFHX3	16	72822572	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2123947	72822572	17532181	669	2094										
CTRB1	1504	broad.mit.edu	37	chr16	75258615	75258615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcccacagggcgactctggcGgccccctggtctgccaaaag	12	16	2	0	rs375112297		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:75258615G>A	ENST00000361017.4	+	7	651	c.643G>A	c.(643-645)Ggc>Agc	p.G215S	RP11-331F4.4_ENST00000489723.1_RNA	NM_001906.4	NP_001897.4	P17538	CTRB1_HUMAN	chymotrypsinogen B1	215	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.166)	Aprotinin(DB06692)	CGACTCTGGCGGCCCCCTGGT	0.662													G|||	1	0.000199681	0	0	5008	,	,		16048	0		0.001	False		,,,				2504	0					ENST00000361017.4																			0				central_nervous_system(1)|lung(1)	2						c.(643-645)Ggc>Agc		chymotrypsinogen B1		G	SER/GLY	0,4396		0,0,2198	43	45	44		643	3.6	0.7	16		44	1,8599	1.2+/-3.3	0,1,4299	no	missense	CTRB1	NM_001906.4	56	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	215/264	75258615	1,12995	2198	4300	6498	SO:0001583	missense	1504							g.chr16:75258615G>A		CCDS32490.1	16q23.1	2008-02-05			ENSG00000168925	ENSG00000168925	3.4.21.1		2521	protein-coding gene	gene with protein product		118890		CTRB		2917002, 8186414	Standard	NM_001906		Approved		uc002fds.3	P17538	OTTHUMG00000159272	ENST00000361017.4:c.643G>A	16.37:g.75258615G>A	ENSP00000354294:p.Gly215Ser		Somatic					p.G215S	NM_001906.4	NP_001897.4	WXS	Illumina GAIIx	Phase_I				BRCA - Breast invasive adenocarcinoma(221;0.166)	7	651	+									Missense_Mutation	SNP	ENST00000361017.4	37	c.643G>A	CCDS32490.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035773	0.75617	0.0	1.16E-4	ENSG00000168925	ENST00000361017	D	0.95788	-3.81	4.57	3.62	0.41486	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	U	0.000001	D	0.97405	0.9151	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97631	1.0142	9	0.87932	D	0	.	12.1399	0.53993	0.0846:0.0:0.9154:0.0	.	215	P17538	CTRB1_HUMAN	S	215	ENSP00000354294:G215S	ENSP00000354294:G215S	G	+	1	0	CTRB1	73816116	1.000000	0.71417	0.709000	0.30452	0.507000	0.33981	6.418000	0.73341	1.142000	0.42291	0.462000	0.41574	GGC		0.662	CTRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354300.2	NM_001906		28	40	0	0	0	1	0	28	40					A	75258615	G	A	75258615	3	1	21	1	0	0	0	0	1	0	0	0	4027	1116	39	1	669	1	CTRB1	16	75258615	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2436043	75258615	15096138	670	2095										
CNTNAP4	85445	broad.mit.edu	37	chr16	76528916	76528916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgtggattagagggaaactgCattgattctcagtattactg	11	5	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:76528916C>T	ENST00000476707.1	+	13	2338	c.2199C>T	c.(2197-2199)tgC>tgT	p.C733C	CNTNAP4_ENST00000307431.8_Silent_p.C729C|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.C681C|CNTNAP4_ENST00000478060.1_Silent_p.C657C			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	730	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGGGAAACTGCATTGATTCTC	0.378																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(2185-2187)tgC>tgT		contactin associated protein-like 4							176	170	172					16																	76528916		2198	4300	6498	SO:0001819	synonymous_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76528916C>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2199C>T	16.37:g.76528916C>T			Somatic				CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.C733C|CNTNAP4_ENST00000478060.1_Silent_p.C657C|CNTNAP4_ENST00000377504.4_Silent_p.C681C	p.C729C	NM_033401.3	NP_207837.2	WXS	Illumina GAIIx	Phase_I	Q9C0A0	CNTP4_HUMAN			15	2572	+			730			Fibrinogen C-terminal.		E9PFZ6|Q86YZ7	Silent	SNP	ENST00000476707.1	37	c.2187C>T																																																																																					0.378	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		49	85	0	0	0	1	0	49	85					T	76528916	C	T	76528916	2	4	21	1	0	0	0	0	0	0	0	1	3651	718	25	3		3	CNTNAP4	16	76528916	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1270301	76528916	13825837	671	2096										
WWOX	51741	broad.mit.edu	37	chr16	78458772	78458772	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tattttatttttcaggcctcTtcatgtgcttgtgtgcaacg	8	8	3	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:78458772T>G	ENST00000566780.1	+	7	977	c.611T>G	c.(610-612)cTt>cGt	p.L204R	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.L204R|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	204	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)		TTCAGGCCTCTTCATGTGCTT	0.463																																						ENST00000566780.1																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(610-612)cTt>cGt		WW domain containing oxidoreductase							315	323	320					16																	78458772		1933	4133	6066	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.chr16:78458772T>G	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.611T>G	16.37:g.78458772T>G	ENSP00000457230:p.Leu204Arg		Somatic				WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.L204R|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron	p.L204R	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)	7	977	+		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)	204			Interaction with MAPT (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	c.611T>G	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.766119	0.49574	.	.	ENSG00000186153	ENST00000408984;ENST00000299644	D	0.91351	-2.83	5.35	5.35	0.76521	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.97417	0.9155	H	0.98866	4.355	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99107	1.0845	10	0.87932	D	0	.	15.3344	0.74241	0.0:0.0:0.0:1.0	.	204	Q9NZC7	WWOX_HUMAN	R	204;47	ENSP00000386161:L204R	ENSP00000299644:L47R	L	+	2	0	WWOX	77016273	1.000000	0.71417	0.998000	0.56505	0.441000	0.31987	7.694000	0.84235	2.006000	0.58801	0.533000	0.62120	CTT		0.463	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			31	337	0	0	0	1	0	31	337					G	78458772	T	G	78458772	3	3	21	1	0	0	0	0	1	0	0	0	17429	1609	56	4	699	4	WWOX	16	78458772	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1929856	78458772	11895981	672	2097										
ZDHHC7	55625	broad.mit.edu	37	chr16	85015539	85015539	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggcacttgtagatgacttccCcgggcttcagctgcaagctc	11	13	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:85015539C>A	ENST00000313732.4	-	4	729	c.377G>T	c.(376-378)gGg>gTg	p.G126V	ZDHHC7_ENST00000564466.1_Missense_Mutation_p.G163V|ZDHHC7_ENST00000569488.1_Intron	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	126					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	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)			large_intestine(6)|lung(4)	10						GATGACTTCCCCGGGCTTCAG	0.527																																						ENST00000313732.4																			0				large_intestine(6)|lung(4)	10						c.(376-378)gGg>gTg		zinc finger, DHHC-type containing 7							146	155	152					16																	85015539		2199	4300	6499	SO:0001583	missense	55625					integral to membrane	acyltransferase activity|protein binding|zinc ion binding	g.chr16:85015539C>A	AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"Zinc fingers, DHHC-type"	18459	protein-coding gene	gene with protein product	"Sertoli cell gene with zinc finger domain-&#946;"	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.377G>T	16.37:g.85015539C>A	ENSP00000315604:p.Gly126Val		Somatic				ZDHHC7_ENST00000569488.1_Intron|ZDHHC7_ENST00000564466.1_Missense_Mutation_p.G163V	p.G126V	NM_017740.2	NP_060210.2	WXS	Illumina GAIIx	Phase_I	Q9NXF8	ZDHC7_HUMAN			4	729	-			126					D3DUM1|Q8WV42|Q9NVD8	Missense_Mutation	SNP	ENST00000313732.4	37	c.377G>T	CCDS10950.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938259	0.92526	.	.	ENSG00000153786	ENST00000313732;ENST00000344861	T;T	0.35236	1.89;1.32	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.64843	0.2635	M	0.82517	2.595	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.72982	0.964;0.979	T	0.69650	-0.5088	10	0.87932	D	0	-23.4483	18.4162	0.90571	0.0:1.0:0.0:0.0	.	163;126	Q9NXF8-2;Q9NXF8	.;ZDHC7_HUMAN	V	126;163	ENSP00000315604:G126V;ENSP00000341681:G163V	ENSP00000315604:G126V	G	-	2	0	ZDHHC7	83573040	1.000000	0.71417	0.915000	0.36163	0.940000	0.58332	7.642000	0.83385	2.658000	0.90341	0.655000	0.94253	GGG		0.527	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269087.1	NM_017740		87	100	1	0	3.98749e-38	1	4.4949e-38	87	100					A	85015539	C	A	85015539	3	1	21	1	0	0	0	0	1	0	0	0	17635	623	22	5	569	5	ZDHHC7	16	85015539	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	6556767	85015539	5339214	673	2098										
KIAA0182	23199	broad.mit.edu	37	chr16	85682261	85682261	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cccatgggccctatcatcgtCccccctgggggccacagcgt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:85682261delC	ENST00000253458.7	+	3	506	c.330delC	c.(328-330)gtcfs	p.V110fs	GSE1_ENST00000405402.2_Frame_Shift_Del_p.V6fs|GSE1_ENST00000393243.1_Frame_Shift_Del_p.V37fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	110																	CTATCATCGTCCCCCCTGGGG	0.677																																						ENST00000253458.7																			0											c.(328-330)gtfs		Gse1 coiled-coil protein							70	73	72					16																	85682261		2198	4298	6496	SO:0001589	frameshift_variant	23199							g.chr16:85682261delC	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.330delC	16.37:g.85682261delC	ENSP00000253458:p.Val110fs		Somatic				GSE1_ENST00000405402.2_Frame_Shift_Del_p.V6fs|GSE1_ENST00000393243.1_Frame_Shift_Del_p.V37fs	p.V110fs	NM_014615.2	NP_055430.1	WXS	Illumina GAIIx	Phase_I					3	506	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Del	DEL	ENST00000253458.7	37	c.330delC	CCDS10952.1																																																																																				0.677	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		78	104						78	104	---	---	---	---	-	85682261	C	-	85682261	7	5	21	1	0	1	0	1	0	0	0	0	8168	842	30	0	340	0	KIAA0182	16	85682261	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	666722	85682261	4672492	674	2099										
ZCCHC14	23174	broad.mit.edu	37	chr16	87445609	87445609	+	Missense_Mutation	SNP	A	A	C													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gggggtgccgggggctgctgAtggtggtggtggtggtggtg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:87445609A>C	ENST00000268616.4	-	12	2524	c.2307T>G	c.(2305-2307)caT>caG	p.H769Q		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	769	His-rich.						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)		GGGGCTGCtgatggtggtggt	0.667																																						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.(2305-2307)caT>caG		zinc finger, CCHC domain containing 14							12	16	15					16																	87445609		2106	4131	6237	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87445609A>C	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.2307T>G	16.37:g.87445609A>C	ENSP00000268616:p.His769Gln		Somatic					p.H769Q	NM_015144.2	NP_055959.1	WXS	Illumina GAIIx	Phase_I	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	2524	-			769			His-rich.		D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.2307T>G	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.451956	0.26074	.	.	ENSG00000140948	ENST00000268616	T	0.18016	2.24	5.26	2.98	0.34508	.	0.087206	0.47852	D	0.000211	T	0.15609	0.0376	N	0.08118	0	0.29361	N	0.864673	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.11567	-1.0582	10	0.10902	T	0.67	-13.1541	6.7506	0.23485	0.6649:0.0:0.3351:0.0	.	769;769	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	Q	769	ENSP00000268616:H769Q	ENSP00000268616:H769Q	H	-	3	2	ZCCHC14	86003110	0.339000	0.24784	1.000000	0.80357	0.973000	0.67179	1.230000	0.32612	0.302000	0.22762	0.533000	0.62120	CAT		0.667	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		25	30	0	0	0	1	0	25	30					C	87445609	A	C	87445609	3	2	21	1	0	0	0	0	1	0	0	0	17598	330	12	4	550	4	ZCCHC14	16	87445609	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	1763348	87445609	2909144	675	2100	9	2								
ZCCHC14	23174	broad.mit.edu	37	chr16	87445612	87445612	+	Silent	SNP	G	G	A													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggtgccgggggctgctgatgGtggtggtggtggtggtggtt					rs370532179		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:87445612G>A	ENST00000268616.4	-	12	2521	c.2304C>T	c.(2302-2304)caC>caT	p.H768H		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	768	His-rich.						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)		GCTGCtgatggtggtggtggt	0.667													G|||	1	0.000199681	0	0	5008	,	,		9634	0.001		0	False		,,,				2504	0					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.(2302-2304)caC>caT		zinc finger, CCHC domain containing 14		G		1,4239		0,1,2119	13	17	15		2304	3.3	1	16		15	0,8292		0,0,4146	no	coding-synonymous	ZCCHC14	NM_015144.2		0,1,6265	AA,AG,GG		0.0,0.0236,0.0080		768/950	87445612	1,12531	2120	4146	6266	SO:0001819	synonymous_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87445612G>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.2304C>T	16.37:g.87445612G>A			Somatic					p.H768H	NM_015144.2	NP_055959.1	WXS	Illumina GAIIx	Phase_I	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	2521	-			768			His-rich.		D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	c.2304C>T	CCDS10961.1																																																																																				0.667	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		26	30	0	0	0	1	0	26	30					A	87445612	G	A	87445612	2	1	21	1	0	0	0	0	0	0	0	1	17598	1252	44	3		3	ZCCHC14	16	87445612	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3	87445612	2909141	676	2101	9	2								
KLHDC4	54758	broad.mit.edu	37	chr16	87788830	87788830	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cagcgcctcggaggtggactGgggatgtcaactttggtcca							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:87788830delG	ENST00000270583.5	-	4	397	c.339delC	c.(337-339)cccfs	p.P113fs	KLHDC4_ENST00000353170.5_Frame_Shift_Del_p.P56fs|KLHDC4_ENST00000347925.5_Frame_Shift_Del_p.P113fs	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	113										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GAGGTGGACTGGGGATGTCAA	0.512																																						ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(337-339)ccfs		kelch domain containing 4							208	190	196					16																	87788830		2198	4300	6498	SO:0001589	frameshift_variant	54758							g.chr16:87788830delG	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.339delC	16.37:g.87788830delG	ENSP00000270583:p.Pro113fs		Somatic				KLHDC4_ENST00000347925.5_Frame_Shift_Del_p.P113fs|KLHDC4_ENST00000353170.5_Frame_Shift_Del_p.P56fs	p.P113fs	NM_017566.3	NP_060036.2	WXS	Illumina GAIIx	Phase_I	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	4	397	-			113					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Frame_Shift_Del	DEL	ENST00000270583.5	37	c.339delC	CCDS10963.1																																																																																				0.512	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		33	48						33	48	---	---	---	---	-	87788830	G	-	87788830	7	5	21	1	0	1	0	1	0	0	0	0	8367	1335	47	0	1255	0	KLHDC4	16	87788830	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	343218	87788830	2565923	677	2102										
ZC3H18	124245	broad.mit.edu	37	chr16	88643557	88643557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgtggccgagagccctgaacGggatcctcactctccagagg	13	13	2	3	rs562706352		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:88643557G>A	ENST00000301011.5	+	2	226	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R9Q	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	9						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R9L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGCCCTGAACGGGATCCTCAC	0.547																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			1	Substitution - Missense(1)	p.R9L(1)	lung(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(25-27)cGg>cAg		zinc finger CCCH-type containing 18							41	43	42					16																	88643557		2198	4299	6497	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88643557G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.26G>A	16.37:g.88643557G>A	ENSP00000301011:p.Arg9Gln		Somatic				ZC3H18_ENST00000452588.2_Missense_Mutation_p.R9Q	p.R9Q	NM_144604.3	NP_653205.3	WXS	Illumina GAIIx	Phase_I	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	2	226	+			9					Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.26G>A	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	g	16.01	3.002777	0.54254	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.28895	1.62;1.59	5.57	2.51	0.30379	.	0.192205	0.47455	N	0.000236	T	0.20495	0.0493	L	0.44542	1.39	0.22199	N	0.999297	B;B;B	0.12013	0.005;0.001;0.005	B;B;B	0.08055	0.003;0.002;0.003	T	0.17653	-1.0362	10	0.35671	T	0.21	-6.6997	3.3428	0.07124	0.2011:0.1143:0.5604:0.1242	.	9;9;9	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	Q	9	ENSP00000301011:R9Q;ENSP00000416951:R9Q	ENSP00000289509:R9Q	R	+	2	0	ZC3H18	87171058	0.869000	0.29996	0.993000	0.49108	0.919000	0.55068	0.443000	0.21644	0.289000	0.22422	-0.215000	0.12644	CGG		0.547	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		25	44	0	0	0	1	0	25	44					A	88643557	G	A	88643557	3	1	21	1	0	0	0	0	1	0	0	0	17583	1116	39	1	28	1	ZC3H18	16	88643557	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	854727	88643557	1711196	678	2103										
SPG7	6687	broad.mit.edu	37	chr16	89598886	89598886	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctcaggcctcggcgctgcccGtgtgcggagcctctttaagg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:89598886delG	ENST00000268704.2	+	9	1181	c.1166delG	c.(1165-1167)cgtfs	p.R389fs	RNU7-117P_ENST00000516770.1_RNA|SPG7_ENST00000341316.2_Frame_Shift_Del_p.R389fs	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	389					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GGCGCTGCCCGTGTGCGGAGC	0.582																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1165-1167)ctfs		spastic paraplegia 7 (pure and complicated autosomal recessive)							34	40	38					16																	89598886		2187	4284	6471	SO:0001589	frameshift_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89598886delG	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1166delG	16.37:g.89598886delG	ENSP00000268704:p.Arg389fs		Somatic				SPG7_ENST00000341316.2_Frame_Shift_Del_p.R389fs	p.R389fs	NM_003119.2	NP_003110.1	WXS	Illumina GAIIx	Phase_I	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	9	1181	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	389					O75756|Q2TB70|Q58F00|Q96IB0	Frame_Shift_Del	DEL	ENST00000268704.2	37	c.1166delG	CCDS10977.1																																																																																				0.582	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		57	103						57	103	---	---	---	---	-	89598886	G	-	89598886	7	5	21	1	0	1	0	1	0	0	0	0	15059	1145	40	0	1200	0	SPG7	16	89598886	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	955329	89598886	755867	679	2104										
SPG7	6687	broad.mit.edu	37	chr16	89617001	89617001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gggctggatgctggagcacaCggaggccgtgatgaaggtgg	20	7	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:89617001C>T	ENST00000268704.2	+	13	1778	c.1763C>T	c.(1762-1764)aCg>aTg	p.T588M		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	588					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CTGGAGCACACGGAGGCCGTG	0.612																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1762-1764)aCg>aTg		spastic paraplegia 7 (pure and complicated autosomal recessive)							94	87	90					16																	89617001		2198	4300	6498	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89617001C>T	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"ATPases / AAA-type"	11237	protein-coding gene	gene with protein product	"paraplegin"	602783	"cell matrix adhesion regulator"	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1763C>T	16.37:g.89617001C>T	ENSP00000268704:p.Thr588Met		Somatic					p.T588M	NM_003119.2	NP_003110.1	WXS	Illumina GAIIx	Phase_I	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	13	1778	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	588					O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.1763C>T	CCDS10977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.422056|4.422056	0.83559|0.83559	.|.	.|.	ENSG00000197912|ENSG00000197912	ENST00000312613|ENST00000268704	.|D	.|0.83419	.|-1.72	5.84|5.84	4.88|4.88	0.63580|0.63580	.|Peptidase M41 (1);Peptidase M41, FtsH (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90539|0.90539	0.7035|0.7035	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.91731|0.91731	0.5396|0.5396	6|10	0.87932|0.87932	D|D	0|0	-28.2621|-28.2621	15.3163|15.3163	0.74081|0.74081	0.0:0.9324:0.0:0.0676|0.0:0.9324:0.0:0.0676	.|.	.|588	.|Q9UQ90	.|SPG7_HUMAN	W|M	180|588	.|ENSP00000268704:T588M	ENSP00000310320:R180W|ENSP00000268704:T588M	R|T	+|+	1|2	2|0	SPG7|SPG7	88144502|88144502	1.000000|1.000000	0.71417|0.71417	0.889000|0.889000	0.34880|0.34880	0.825000|0.825000	0.46686|0.46686	7.568000|7.568000	0.82369|0.82369	1.470000|1.470000	0.48102|0.48102	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.612	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		46	45	0	0	0	1	0	46	45					T	89617001	C	T	89617001	3	4	21	1	0	0	0	0	1	0	0	0	15059	536	19	1	1963	1	SPG7	16	89617001	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	18115	89617001	737752	680	2105										
MC1R	4157	broad.mit.edu	37	chr16	89985820	89985820	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcctcagcctggggctggtgAgcttggtggagaacgcgctg	17	10	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:89985820A>G	ENST00000555147.1	+	1	1534	c.154A>G	c.(154-156)Agc>Ggc	p.S52G	RP11-566K11.4_ENST00000554623.1_RNA|RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000556922.1_Missense_Mutation_p.S52G|MC1R_ENST00000555427.1_Missense_Mutation_p.S52G|TUBB3_ENST00000554444.1_5'Flank	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	52					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGGGCTGGTGAGCTTGGTGGA	0.642									Melanoma, Familial Clustering of																													ENST00000555427.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(154-156)Agc>Ggc		melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)							50	60	56					16																	89985820		2092	4221	6313	SO:0001583	missense	4157	Melanoma, Familial Clustering of	Familial Cancer Database					g.chr16:89985820A>G		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"GPCR / Class A : Melanocortin receptors"	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.154A>G	16.37:g.89985820A>G	ENSP00000451605:p.Ser52Gly		Somatic				MC1R_ENST00000555147.1_Missense_Mutation_p.S52G|TUBB3_ENST00000556922.1_Missense_Mutation_p.S52G	p.S52G			WXS	Illumina GAIIx	Phase_I				BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	2457	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)						Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Missense_Mutation	SNP	ENST00000555147.1	37	c.154A>G	CCDS56011.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912215	0.72983	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258839	ENST00000555427;ENST00000556922;ENST00000555147	T;T;T	0.27557	1.66;1.66;1.66	4.86	4.86	0.63082	.	0.000000	0.45361	U	0.000372	T	0.45637	0.1352	M	0.92026	3.265	0.52501	D	0.999959	P	0.36647	0.563	B	0.38264	0.269	T	0.54925	-0.8220	9	.	.	.	.	13.6337	0.62210	1.0:0.0:0.0:0.0	.	52	Q01726	MSHR_HUMAN	G	52	ENSP00000451760:S52G;ENSP00000451560:S52G;ENSP00000451605:S52G	.	S	+	1	0	MC1R;RP11-566K11.2	88513321	1.000000	0.71417	0.999000	0.59377	0.536000	0.34869	8.858000	0.92256	1.829000	0.53265	0.374000	0.22700	AGC		0.642	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		50	71	0	0	0	1	0	50	71					G	89985820	A	G	89985820	3	3	21	1	0	0	0	0	1	0	0	0	9372	304	11	4	156	4	MC1R	16	89985820	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	368819	89985820	368933	681	2106										
OR1A1	8383	broad.mit.edu	37	chr17	3119791	3119791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcatctacagtctgagaaatCgggacatgaaggctgccctg	11	10	3	2	rs371610534		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:3119791C>T	ENST00000304094.1	+	1	877	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R293W(2)		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						TCTGAGAAATCGGGACATGAA	0.468																																						ENST00000304094.1																			2	Substitution - Missense(2)	p.R293W(2)	large_intestine(1)|skin(1)	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.(877-879)Cgg>Tgg		olfactory receptor, family 1, subfamily A, member 1		C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	109	104	106		877	1.9	0.1	17		106	0,8600		0,0,4300	no	missense	OR1A1	NM_014565.2	101	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	293/310	3119791	3,13003	2203	4300	6503	SO:0001583	missense	8383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3119791C>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.877C>T	17.37:g.3119791C>T	ENSP00000305207:p.Arg293Trp		Somatic					p.R293W	NM_014565.2	NP_055380.2	WXS	Illumina GAIIx	Phase_I	Q9P1Q5	OR1A1_HUMAN			1	877	+			293					A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	37	c.877C>T	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	C	6.227	0.409970	0.11812	6.81E-4	0.0	ENSG00000172146	ENST00000304094	T	0.39997	1.05	5.05	1.9	0.25705	.	0.547245	0.15536	N	0.257203	T	0.44953	0.1318	M	0.78637	2.42	0.09310	N	1	B	0.21753	0.06	B	0.11329	0.006	T	0.46596	-0.9180	10	0.87932	D	0	.	13.0249	0.58808	0.552:0.448:0.0:0.0	.	293	Q9P1Q5	OR1A1_HUMAN	W	293	ENSP00000305207:R293W	ENSP00000305207:R293W	R	+	1	2	OR1A1	3066541	0.000000	0.05858	0.135000	0.22099	0.303000	0.27691	-1.829000	0.01701	0.287000	0.22375	-0.428000	0.05917	CGG		0.468	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		56	92	0	0	0	1	0	56	92					T	3119791	C	T	3119791	3	4	21	1	0	0	0	0	1	0	0	0	10958	875	31	1	879	1	OR1A1	17	3119791	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08		3119791	78075419	682	2107										
TRPV3	162514	broad.mit.edu	37	chr17	3438974	3438974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gggctgcgatgtccccctgcCgccgctcgatggcgatgttc	14	15	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:3438974C>T	ENST00000576742.1	-	7	998	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	TRPV3_ENST00000301365.4_Missense_Mutation_p.R226Q|TRPV3_ENST00000572519.1_Missense_Mutation_p.R226Q	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	226					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GTCCCCCTGCCGCCGCTCGAT	0.721																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(676-678)cGg>cAg		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						11	12	12					17																	3438974		2165	4262	6427	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3438974C>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.677G>A	17.37:g.3438974C>T	ENSP00000461518:p.Arg226Gln		Somatic				TRPV3_ENST00000576742.1_Missense_Mutation_p.R226Q|TRPV3_ENST00000572519.1_Missense_Mutation_p.R226Q	p.R226Q			WXS	Illumina GAIIx	Phase_I	Q8NET8	TRPV3_HUMAN			7	808	-			226					Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.677G>A	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	C	37	6.118186	0.97300	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	T	0.53206	0.63	5.03	5.03	0.67393	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	T	0.63177	0.2489	L	0.45228	1.405	0.48452	D	0.999653	B;D;D;D;D;D;D	0.89917	0.076;1.0;0.997;1.0;1.0;1.0;0.996	B;D;P;D;D;D;P	0.87578	0.018;0.992;0.818;0.996;0.996;0.998;0.722	T	0.65195	-0.6227	10	0.87932	D	0	-10.9786	18.2979	0.90153	0.0:1.0:0.0:0.0	.	210;210;226;210;226;226;226	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	Q	226;226;210	ENSP00000301365:R226Q	ENSP00000301365:R226Q	R	-	2	0	TRPV3	3385724	0.988000	0.35896	1.000000	0.80357	0.892000	0.51952	7.446000	0.80609	2.741000	0.93983	0.555000	0.69702	CGG		0.721	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		4	7	0	0	0	1	0	4	7					T	3438974	C	T	3438974	3	4	21	1	0	0	0	0	1	0	0	0	16612	652	23	1	1743	1	TRPV3	17	3438974	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	319183	3438974	77756236	683	2108										
UBE2G1	7326	broad.mit.edu	37	chr17	4200057	4200057	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaatttcattttaggaggtcGgaggggataatcttttggga	14	3	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:4200057G>A	ENST00000396981.2	-	3	367	c.202C>T	c.(202-204)Cga>Tga	p.R68*	UBE2G1_ENST00000572484.1_5'UTR	NM_003342.4	NP_003333.1	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	68					protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|ubiquitin-dependent protein catabolic process (GO:0006511)	extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)	p.R68R(1)		large_intestine(2)|lung(4)|skin(1)	7						TTAGGAGGTCGGAGGGGATAA	0.353																																						ENST00000396981.2																			1	Substitution - coding silent(1)	p.R68R(1)	lung(1)	large_intestine(2)|lung(4)|skin(1)	7						c.(202-204)Cga>Tga		ubiquitin-conjugating enzyme E2G 1							177	190	186					17																	4200057		2203	4300	6503	SO:0001587	stop_gained	7326				protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr17:4200057G>A	BC026288	CCDS32532.1	17p13.2	2014-05-30	2011-05-19		ENSG00000132388	ENSG00000132388		"Ubiquitin-conjugating enzymes E2"	12482	protein-coding gene	gene with protein product		601569	"ubiquitin-conjugating enzyme E2G 1 (homologous to C. elegans UBC7)", "ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, C. elegans)", "ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, yeast)"	UBE2G		8893823	Standard	NM_003342		Approved	UBC7	uc002fxs.3	P62253	OTTHUMG00000177826	ENST00000396981.2:c.202C>T	17.37:g.4200057G>A	ENSP00000380178:p.Arg68*		Somatic				UBE2G1_ENST00000572484.1_5'UTR	p.R68*	NM_003342.4	NP_003333.1	WXS	Illumina GAIIx	Phase_I	P62253	UB2G1_HUMAN			3	367	-			68					B2R7P2|D3DTK0|Q99462	Nonsense_Mutation	SNP	ENST00000396981.2	37	c.202C>T	CCDS32532.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157271	0.78114	.	.	ENSG00000132388	ENST00000396981	.	.	.	5.42	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-6.7478	13.1327	0.59391	0.0:0.0:0.7848:0.2152	.	.	.	.	X	68	.	ENSP00000380178:R68X	R	-	1	2	UBE2G1	4146806	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.422000	0.59854	2.715000	0.92844	0.655000	0.94253	CGA		0.353	UBE2G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439099.1	NM_003342		101	170	0	0	0	1	0	101	170					A	4200057	G	A	4200057	4	1	21	1	0	0	0	0	0	1	0	0	16871	1124	39	1	322	1	UBE2G1	17	4200057	Nonsense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	761083	4200057	76995153	684	2109										
ALOX15	246	broad.mit.edu	37	chr17	4534907	4534907	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggcgacgcttagatggccacActgttttccaccacgctggg	12	13	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:4534907A>G	ENST00000570836.1	-	15	2073	c.1977T>C	c.(1975-1977)agT>agC	p.S659S	ALOX15_ENST00000545513.1_Silent_p.S681S|ALOX15_ENST00000574640.1_Silent_p.S620S|ALOX15_ENST00000293761.3_Silent_p.S659S			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	659	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)		AGATGGCCACACTGTTTTCCA	0.577																																						ENST00000570836.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(1975-1977)agT>agC		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						124	109	114					17																	4534907		2203	4300	6503	SO:0001819	synonymous_variant	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4534907A>G	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.1977T>C	17.37:g.4534907A>G			Somatic				ALOX15_ENST00000545513.1_Silent_p.S681S|ALOX15_ENST00000293761.3_Silent_p.S659S|ALOX15_ENST00000574640.1_Silent_p.S620S	p.S659S			WXS	Illumina GAIIx	Phase_I	P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	15	2073	-			659			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Silent	SNP	ENST00000570836.1	37	c.1977T>C	CCDS11049.1																																																																																				0.577	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			40	59	0	0	0	1	0	40	59					G	4534907	A	G	4534907	2	3	21	1	0	0	0	0	0	0	0	1	538	156	6	4		4	ALOX15	17	4534907	Silent	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	334850	4534907	76660303	685	2110										
MINK1	1145	broad.mit.edu	37	chr17	4798393	4798393	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tagtgggtggagagggcactCggctcgaccagctgcagtac	16	10	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:4798393C>T	ENST00000293780.4	-	0	2455				MINK1_ENST00000355280.6_Missense_Mutation_p.R981W|MINK1_ENST00000453408.3_Missense_Mutation_p.R961W|MINK1_ENST00000347992.7_Missense_Mutation_p.R952W	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	AGAGGGCACTCGGCTCGACCA	0.597																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(2941-2943)Cgg>Tgg		misshapen-like kinase 1							382	354	363					17																	4798393		2037	4180	6217	SO:0001628	intergenic_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4798393C>T	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1966	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	100725	"cholinergic receptor, nicotinic, epsilon"			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4798393C>T			Somatic				MINK1_ENST00000453408.3_Missense_Mutation_p.R961W|MINK1_ENST00000347992.7_Missense_Mutation_p.R952W	p.R981W	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	WXS	Illumina GAIIx	Phase_I	Q8N4C8	MINK1_HUMAN			25	3137	+			981			Mediates interaction with RAP2A.		D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.2941C>T	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334658	0.81801	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.76839	-1.04;-1.03;-1.05	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.88235	0.6382	M	0.80982	2.52	0.58432	D	0.999995	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.76575	0.952;0.988;0.973;0.988	D	0.89539	0.3791	10	0.87932	D	0	.	16.0869	0.81060	0.0:1.0:0.0:0.0	.	944;961;981;952	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	W	981;961;952	ENSP00000347427:R981W;ENSP00000406487:R961W;ENSP00000269296:R952W	ENSP00000269296:R952W	R	+	1	2	MINK1	4739169	0.996000	0.38824	0.938000	0.37757	0.969000	0.65631	4.058000	0.57463	2.655000	0.90218	0.655000	0.94253	CGG		0.597	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			21	36	0	0	0	1	0	21	36					T	4798393	C	T	4798393	1	4	21	0	1	0	0	0	0	0	0	0	9596	875	31	1		1	MINK1	17	4798393	IGR	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	263486	4798393	76396817	686	2111										
SLC16A11	162515	broad.mit.edu	37	chr17	6946780	6946780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttatcgcgaaggctgcggccGccaccacccagccccagccc	10	20	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:6946780G>A	ENST00000308009.1	-	1	462	c.125C>T	c.(124-126)gCg>gTg	p.A42V	SLC16A11_ENST00000447225.1_Missense_Mutation_p.A18V	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	42					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GGCTGCGGCCGCCACCACCCA	0.697																																						ENST00000308009.1																			0				endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						c.(124-126)gCg>gTg		solute carrier family 16, member 11							8	11	10					17																	6946780		2148	4198	6346	SO:0001583	missense	162515					integral to membrane|plasma membrane	symporter activity	g.chr17:6946780G>A	AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"Solute carriers"	23093	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 11"	615765	"solute carrier family 16 (monocarboxylic acid transporters), member 11"				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.125C>T	17.37:g.6946780G>A	ENSP00000310490:p.Ala42Val		Somatic				SLC16A11_ENST00000447225.1_Missense_Mutation_p.A18V	p.A42V	NM_153357.1	NP_699188.1	WXS	Illumina GAIIx	Phase_I	Q8NCK7	MOT11_HUMAN			1	462	-			42						Missense_Mutation	SNP	ENST00000308009.1	37	c.125C>T	CCDS11086.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864269	0.32977	.	.	ENSG00000174326	ENST00000308009;ENST00000447225	T;T	0.10005	2.92;2.92	5.61	2.57	0.30868	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.127526	0.53938	N	0.000060	T	0.02012	0.0063	N	0.00456	-1.48	0.34847	D	0.741241	B	0.14438	0.01	B	0.15484	0.013	T	0.39187	-0.9626	10	0.02654	T	1	.	6.7487	0.23475	0.3472:0.0:0.6528:0.0	.	42	Q8NCK7	MOT11_HUMAN	V	42;18	ENSP00000310490:A42V;ENSP00000394449:A18V	ENSP00000310490:A42V	A	-	2	0	SLC16A11	6887504	0.996000	0.38824	0.996000	0.52242	0.941000	0.58515	2.927000	0.48900	0.750000	0.32877	-0.440000	0.05779	GCG		0.697	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	NM_153357		15	11	0	0	0	1	0	15	11					A	6946780	G	A	6946780	3	1	21	1	0	0	0	0	1	0	0	0	14419	1087	38	1	1306	1	SLC16A11	17	6946780	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2148387	6946780	74248430	687	2112										
TMEM102	284114	broad.mit.edu	37	chr17	7339922	7339922	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcgccggtgtctttggaaaaAtcgcctagtgacgtttcagc	12	10	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:7339922A>C	ENST00000323206.1	+	3	897	c.624A>C	c.(622-624)aaA>aaC	p.K208N	FGF11_ENST00000575235.1_5'Flank|RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.K208N|FGF11_ENST00000293829.4_5'Flank	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	208					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)				CTTTGGAAAAATCGCCTAGTG	0.552																																						ENST00000323206.1																			0				kidney(1)|lung(3)|skin(1)	5						c.(622-624)aaA>aaC		transmembrane protein 102							96	95	95					17																	7339922		2203	4300	6503	SO:0001583	missense	284114				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding	g.chr17:7339922A>C	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.624A>C	17.37:g.7339922A>C	ENSP00000315387:p.Lys208Asn		Somatic				TMEM102_ENST00000396568.1_Missense_Mutation_p.K208N|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA	p.K208N	NM_178518.2	NP_848613.1	WXS	Illumina GAIIx	Phase_I	Q8N9M5	TM102_HUMAN			3	897	+		Prostate(122;0.173)	208					D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	c.624A>C	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	A	7.898	0.733778	0.15574	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.47528	0.84;0.84	5.27	-3.01	0.05463	.	1.091740	0.06961	N	0.816438	T	0.27629	0.0679	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24225	-1.0166	10	0.44086	T	0.13	-7.9316	1.0765	0.01634	0.329:0.2832:0.2506:0.1373	.	208	Q8N9M5	TM102_HUMAN	N	208	ENSP00000315387:K208N;ENSP00000379815:K208N	ENSP00000315387:K208N	K	+	3	2	TMEM102	7280646	0.510000	0.26171	0.367000	0.25926	0.029000	0.11900	0.207000	0.17395	-0.196000	0.10366	-0.290000	0.09829	AAA		0.552	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518		59	78	0	0	0	1	0	59	78					C	7339922	A	C	7339922	3	2	21	1	0	0	0	0	1	0	0	0	16032	98	4	4	630	4	TMEM102	17	7339922	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	393142	7339922	73855288	688	2113										
MYH10	4628	broad.mit.edu	37	chr17	8448900	8448900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ataggtagcttttgccaatgCttctactgcaaaatctgcct	7	10	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:8448900C>T	ENST00000269243.4	-	12	1405	c.1267G>A	c.(1267-1269)Gca>Aca	p.A423T	MYH10_ENST00000360416.3_Missense_Mutation_p.A433T|MYH10_ENST00000396239.1_Missense_Mutation_p.A423T|MYH10_ENST00000379980.4_Missense_Mutation_p.A439T|RN7SL129P_ENST00000479993.2_RNA	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	423	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						TTTGCCAATGCTTCTACTGCA	0.398																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(1297-1299)Gca>Aca		myosin, heavy chain 10, non-muscle							86	88	87					17																	8448900		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.chr17:8448900C>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.1267G>A	17.37:g.8448900C>T	ENSP00000269243:p.Ala423Thr		Somatic				MYH10_ENST00000379980.4_Missense_Mutation_p.A439T|MYH10_ENST00000396239.1_Missense_Mutation_p.A423T|MYH10_ENST00000269243.4_Missense_Mutation_p.A423T	p.A433T	NM_001256012.1	NP_001242941.1	WXS	Illumina GAIIx	Phase_I	P35580	MYH10_HUMAN			13	1435	-			423			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.1297G>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	35	5.473879	0.96291	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58	5.0	5.0	0.66597	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96241	0.8774	H	0.94698	3.57	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.986;0.982;1.0	D	0.97056	0.9767	10	0.87932	D	0	.	18.844	0.92196	0.0:1.0:0.0:0.0	.	432;433;423	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	T	423;433;423;439	ENSP00000269243:A423T;ENSP00000353590:A433T;ENSP00000379539:A423T;ENSP00000369315:A439T	ENSP00000269243:A423T	A	-	1	0	MYH10	8389625	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.564000	0.82326	2.745000	0.94114	0.655000	0.94253	GCA		0.398	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			20	26	0	0	0	1	0	20	26					T	8448900	C	T	8448900	3	4	21	1	0	0	0	0	1	0	0	0	10039	797	28	3	4783	3	MYH10	17	8448900	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1108978	8448900	72746310	689	2114										
GLP2R	9340	broad.mit.edu	37	chr17	9763352	9763352	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttgaaggcctctacctccacAcgctgctggagcccacagtg	10	15	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:9763352A>G	ENST00000262441.5	+	7	1372	c.859A>G	c.(859-861)Acg>Gcg	p.T287A	GLP2R_ENST00000574745.1_Missense_Mutation_p.T107A	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	287					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)	CTACCTCCACACGCTGCTGGA	0.572																																						ENST00000262441.5																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(859-861)Acg>Gcg		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						80	70	74					17																	9763352		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.chr17:9763352A>G	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.859A>G	17.37:g.9763352A>G	ENSP00000262441:p.Thr287Ala		Somatic				GLP2R_ENST00000574745.1_Missense_Mutation_p.T107A	p.T287A	NM_004246.1	NP_004237.1	WXS	Illumina GAIIx	Phase_I	O95838	GLP2R_HUMAN			7	1372	+			287					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.859A>G	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	A	4.643	0.119618	0.08881	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.36520	1.25	5.34	-3.78	0.04333	GPCR, family 2-like (1);	1.422570	0.05107	N	0.488161	T	0.33294	0.0858	M	0.63843	1.955	0.09310	N	1	B	0.09022	0.002	B	0.21151	0.033	T	0.42327	-0.9458	10	0.44086	T	0.13	.	6.2668	0.20932	0.616:0.0:0.1077:0.2763	.	287	O95838	GLP2R_HUMAN	A	287;262;287	ENSP00000262441:T287A	ENSP00000262441:T287A	T	+	1	0	GLP2R	9704077	0.177000	0.23109	0.000000	0.03702	0.004000	0.04260	2.228000	0.42981	-0.424000	0.07382	-0.766000	0.03442	ACG		0.572	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			11	25	0	0	0	1	0	11	25					G	9763352	A	G	9763352	3	3	21	1	0	0	0	0	1	0	0	0	6461	159	6	4	885	4	GLP2R	17	9763352	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	1314452	9763352	71431858	690	2115										
MYH3	4621	broad.mit.edu	37	chr17	10555851	10555851	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aacttgggggggttcatggcGtacacatcctctggtttgac	13	9	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:10555851G>A	ENST00000583535.1	-	4	321	c.234C>T	c.(232-234)taC>taT	p.Y78Y	MYH3_ENST00000226209.7_Silent_p.Y78Y	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	78					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.Y78Y(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGTTCATGGCGTACACATCCT	0.468																																						ENST00000583535.1																			1	Substitution - coding silent(1)	p.Y78Y(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(232-234)taC>taT		myosin, heavy chain 3, skeletal muscle, embryonic							136	123	127					17																	10555851		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10555851G>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.234C>T	17.37:g.10555851G>A			Somatic				MYH3_ENST00000226209.7_Silent_p.Y78Y	p.Y78Y	NM_002470.3	NP_002461.2	WXS	Illumina GAIIx	Phase_I	P11055	MYH3_HUMAN			4	321	-			78			Myosin head-like.		Q15492	Silent	SNP	ENST00000583535.1	37	c.234C>T	CCDS11157.1																																																																																				0.468	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		45	51	0	0	0	1	0	45	51					A	10555851	G	A	10555851	2	1	21	1	0	0	0	0	0	0	0	1	10045	1140	40	1		1	MYH3	17	10555851	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	792499	10555851	70639359	691	2116										
DNAH9	1770	broad.mit.edu	37	chr17	11725897	11725897	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgtcagcctccgcttcttgcAgaacacagagggcattgagg	12	11	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:11725897A>C	ENST00000262442.4	+	47	9061	c.8993A>C	c.(8992-8994)cAg>cCg	p.Q2998P	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q2998P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2998	AAA 4. {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)		CGCTTCTTGCAGAACACAGAG	0.522																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(8992-8994)cAg>cCg		dynein, axonemal, heavy chain 9							109	106	107					17																	11725897		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.chr17:11725897A>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.8993A>C	17.37:g.11725897A>C	ENSP00000262442:p.Gln2998Pro		Somatic				DNAH9_ENST00000454412.2_Missense_Mutation_p.Q2998P	p.Q2998P	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)	47	9061	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2998			AAA 4 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.8993A>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843825	0.51164	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.46063	0.88;0.88	3.68	3.68	0.42216	Dynein heavy chain, P-loop containing D4 domain (1);	0.078928	0.52532	D	0.000078	T	0.54240	0.1846	M	0.73962	2.25	0.80722	D	1	P	0.48230	0.907	P	0.56865	0.808	T	0.54490	-0.8286	10	0.42905	T	0.14	.	8.0672	0.30667	0.8903:0.0:0.1097:0.0	.	2998	Q9NYC9	DYH9_HUMAN	P	2998;2998;1580	ENSP00000262442:Q2998P;ENSP00000414874:Q2998P	ENSP00000262442:Q2998P	Q	+	2	0	DNAH9	11666622	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	4.185000	0.58330	1.671000	0.50874	0.460000	0.39030	CAG		0.522	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		68	92	0	0	0	1	0	68	92					C	11725897	A	C	11725897	3	2	21	1	0	0	0	0	1	0	0	0	4610	188	7	4	9179	4	DNAH9	17	11725897	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	1170046	11725897	69469313	692	2117										
ELAC2	60528	broad.mit.edu	37	chr17	12897743	12897744	+	Splice_Site	DEL	TG	TG	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	actgaccggcctttgctaccTgtgtgtcttttccactgctt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:12897743_12897744delTG	ENST00000338034.4	-	22	2345_2346	c.2106_2107delCA	c.(2104-2109)cacagc>cagc	p.HS702fs	ELAC2_ENST00000426905.3_Splice_Site_p.HS662fs|ELAC2_ENST00000395962.2_Splice_Site_p.HS683fs	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	702					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CTTTGCTACCTGTGTGTCTTTT	0.564																																						ENST00000338034.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						c.e22+1		elaC ribonuclease Z 2																																				SO:0001630	splice_region_variant	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12897743_12897744delTG	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"tRNase Z (long form)"	605367	"elaC (E. coli) homolog 2", "elaC homolog 2 (E. coli)"			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.2108+1CA>-	17.37:g.12897747_12897748delTG			Somatic				ELAC2_ENST00000426905.3_Splice_Site_p.HS662_splice|ELAC2_ENST00000395962.2_Splice_Site_p.HS683_splice	p.HS702_splice	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	WXS	Illumina GAIIx	Phase_I	Q9BQ52	RNZ2_HUMAN			22	2345_2346	-			702					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Splice_Site	DEL	ENST00000338034.4	37	c.2108_splice	CCDS11164.1																																																																																				0.564	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5		Frame_Shift_Del	157	289						157	289	---	---	---	---	-	12897744	TG	-	12897743	8	5	21	1	0	1	0	1	0	0	1	0	5049	1594	55	0	385	0	ELAC2	17	12897743	Splice_Site	DEL	TG	TCGA-N7-A4Y0-01A-12D-A28R-08	1171846	12897743	68297467	693	2118										
CCDC144A	9720	broad.mit.edu	37	chr17	16593988	16593988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acagagctgcccggtcgggcGacgtccctggggtggagcac	17	13	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:16593988G>A	ENST00000360524.8	+	1	350	c.274G>A	c.(274-276)Gac>Aac	p.D92N	RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D92N|RNU6-405P_ENST00000516637.1_RNA|CCDC144A_ENST00000340621.5_Missense_Mutation_p.D92N|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000456009.1_Missense_Mutation_p.D92N|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D92N|CCDC144A_ENST00000443444.2_Missense_Mutation_p.D92N	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	92																	CCGGTCGGGCGACGTCCCTGG	0.642																																						ENST00000443444.2																			0											c.(274-276)Gac>Aac		coiled-coil domain containing 144A							105	115	111					17																	16593988		2203	4300	6503	SO:0001583	missense	9720							g.chr17:16593988G>A	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.274G>A	17.37:g.16593988G>A	ENSP00000353717:p.Asp92Asn		Somatic				CCDC144A_ENST00000360524.8_Missense_Mutation_p.D92N|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D92N|CCDC144A_ENST00000456009.1_Missense_Mutation_p.D92N|CCDC144A_ENST00000340621.5_Missense_Mutation_p.D92N|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D92N	p.D92N			WXS	Illumina GAIIx	Phase_I	A2RUR9	C144A_HUMAN			1	414	+			92					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.274G>A	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	7.191	0.591459	0.13812	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000436374;ENST00000399264;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83	0.542	-1.08	0.09936	.	.	.	.	.	T	0.10337	0.0253	L	0.29908	0.895	0.09310	N	1	P	0.36837	0.571	B	0.21360	0.034	T	0.30650	-0.9971	8	0.10636	T	0.68	.	.	.	.	.	92	A2RUR9	C144A_HUMAN	N	92	ENSP00000344740:D92N;ENSP00000382215:D92N;ENSP00000439262:D92N;ENSP00000440655:D92N;ENSP00000353717:D92N;ENSP00000394201:D92N;ENSP00000353685:D92N	ENSP00000344740:D92N	D	+	1	0	CCDC144A	16534713	0.638000	0.27225	0.001000	0.08648	0.009000	0.06853	-0.873000	0.04214	-0.490000	0.06707	-0.507000	0.04495	GAC		0.642	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			94	141	0	0	0	1	0	94	141					A	16593988	G	A	16593988	3	1	21	1	0	0	0	0	1	0	0	0	2779	1058	37	1	276	1	CCDC144A	17	16593988	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3696245	16593988	64601222	694	2119										
RAI1	10743	broad.mit.edu	37	chr17	17698653	17698653	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctgggcttccaggaggaggaCccccctggggagaaggtggc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:17698653delC	ENST00000353383.1	+	3	2860	c.2391delC	c.(2389-2391)gacfs	p.D797fs	RAI1_ENST00000261641.6_Frame_Shift_Del_p.D797fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	797					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGGAGGAGGACCCCCCTGGGG	0.667																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(2389-2391)gafs		retinoic acid induced 1							34	40	38					17																	17698653		2203	4300	6503	SO:0001589	frameshift_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17698653delC	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2391delC	17.37:g.17698653delC	ENSP00000323074:p.Asp797fs		Somatic				RAI1_ENST00000261641.6_Frame_Shift_Del_p.D797fs	p.D797fs	NM_030665.3	NP_109590.3	WXS	Illumina GAIIx	Phase_I	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	2860	+			797					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Frame_Shift_Del	DEL	ENST00000353383.1	37	c.2391delC	CCDS11188.1																																																																																				0.667	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		21	34						21	34	---	---	---	---	-	17698653	C	-	17698653	7	5	21	1	0	1	0	1	0	0	0	0	13022	506	18	0	2393	0	RAI1	17	17698653	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1104665	17698653	63496557	695	2120										
LGALS9	3965	broad.mit.edu	37	chr17	25976006	25976006	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agctgacccatgtgcagacaTaggcggcttcctggccctgg	13	13	0	2	rs201620769		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:25976006T>C	ENST00000395473.2	+	11	2534	c.1066T>C	c.(1066-1068)Tag>Cag	p.*356Q	LGALS9_ENST00000302228.5_Nonstop_Mutation_p.*324Q|LGALS9_ENST00000310394.5_Nonstop_Mutation_p.*312Q|LGALS9_ENST00000313648.6_3'UTR|LGALS9_ENST00000413914.2_3'UTR	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	0					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		TGTGCAGACATAGGCGGCTTC	0.627																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	ENST00000395473.2																			0				endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18						c.(1066-1068)Tag>Cag		lectin, galactoside-binding, soluble, 9							137	135	136					17																	25976006		2203	4300	6503	SO:0001578	stop_lost	3965				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	g.chr17:25976006T>C	AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"Lectins, galactoside-binding"	6570	protein-coding gene	gene with protein product	"galectin 9"	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.1066T>C	17.37:g.25976006T>C	ENSP00000378856:p.*356Glnext*183		Somatic				LGALS9_ENST00000413914.2_3'UTR|LGALS9_ENST00000313648.6_3'UTR|LGALS9_ENST00000310394.5_Nonstop_Mutation_p.*312Q|LGALS9_ENST00000302228.5_Nonstop_Mutation_p.*324Q	p.*356Q	NM_009587.2	NP_033665.1	WXS	Illumina GAIIx	Phase_I	O00182	LEG9_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	11	2534	+	Lung NSC(42;0.0103)		0					A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Nonstop_Mutation	SNP	ENST00000395473.2	37	c.1066T>C	CCDS11222.1	.	.	.	.	.	.	.	.	.	.	T	8.942	0.966049	0.18659	.	.	ENSG00000168961	ENST00000395473;ENST00000302228;ENST00000310394	.	.	.	3.82	3.82	0.43975	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8944	0.47015	0.0:0.0:0.0:1.0	.	.	.	.	Q	356;324;312	.	.	X	+	1	0	LGALS9	23000133	0.840000	0.29493	0.612000	0.29024	0.193000	0.23685	3.613000	0.54152	1.498000	0.48600	0.374000	0.22700	TAG		0.627	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1	NM_009587		72	121	0	0	0	1	0	72	121					C	25976006	T	C	25976006	4	2	21	1	0	0	0	0	0	0	0	0	8757	1419	49	4	1108	4	LGALS9	17	25976006	Nonstop_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	8277353	25976006	55219204	696	2121										
NLK	51701	broad.mit.edu	37	chr17	26519194	26519195	+	Frame_Shift_Del	DEL	CT	CT	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcagaaaggaaacagagtgcCtctctgcatcaaccctcagt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:26519194_26519195delCT	ENST00000407008.3	+	10	2202_2203	c.1484_1485delCT	c.(1483-1485)cctfs	p.P495fs		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	495	Required for homodimerization and kinase activation and localization to the nucleus. {ECO:0000250}.|Required for interaction with TAB2. {ECO:0000250}.				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)		AACAGAGTGCCTCTCTGCATCA	0.376																																						ENST00000407008.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14						c.(1483-1485)cfs		nemo-like kinase																																				SO:0001589	frameshift_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.chr17:26519194_26519195delCT	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.1484_1485delCT	17.37:g.26519198_26519199delCT	ENSP00000384625:p.Pro495fs		Somatic					p.P495fs	NM_016231.4	NP_057315.3	WXS	Illumina GAIIx	Phase_I	Q9UBE8	NLK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	10	2202_2203	+	all_lung(13;0.000343)|Lung NSC(42;0.00184)		495					B2RCX1|Q2PNI9|Q6P2A3	Frame_Shift_Del	DEL	ENST00000407008.3	37	c.1484_1485delCT	CCDS11224.2																																																																																				0.376	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255607.3	NM_016231		10	12						10	12	---	---	---	---	-	26519195	CT	-	26519194	7	5	21	1	0	1	0	1	0	0	0	0	10475	681	24	0	1522	0	NLK	17	26519194	Frame_Shift_Del	DEL	CT	TCGA-N7-A4Y0-01A-12D-A28R-08	543188	26519194	54676016	697	2122										
PROCA1	6830	broad.mit.edu	37	chr17	27031790	27031790	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtggcggacacagtcagaggCgaaagggtagatgatgtgcc	17	7	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:27031790C>T	ENST00000314616.6	+	0	6518				PROCA1_ENST00000301039.2_Missense_Mutation_p.A55T|PROCA1_ENST00000439862.3_Missense_Mutation_p.A57T|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)					CAGTCAGAGGCGAAAGGGTAG	0.592																																						ENST00000301039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16						c.(163-165)Gcc>Acc		protein interacting with cyclin A1							130	105	114					17																	27031790		2203	4300	6503	SO:0001628	intergenic_variant	147011				lipid catabolic process		calcium ion binding|phospholipase A2 activity	g.chr17:27031790C>T	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.27031790C>T			Somatic				PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000439862.3_Missense_Mutation_p.A57T	p.A55T	NM_152465.1	NP_689678.1	WXS	Illumina GAIIx	Phase_I	Q8NCQ7	PRCA1_HUMAN			2	356	-	Lung NSC(42;0.00431)		83					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.163G>A	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	2.382	-0.341870	0.05243	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329;ENST00000422880	T;T;T	0.29655	1.56;1.56;3.58	3.86	-4.24	0.03777	.	0.529018	0.20002	N	0.101305	T	0.11965	0.0291	N	0.17474	0.49	0.09310	N	0.999991	B;B	0.19706	0.038;0.038	B;B	0.06405	0.002;0.002	T	0.27739	-1.0065	10	0.14656	T	0.56	.	6.3287	0.21259	0.16:0.5506:0.0:0.2893	.	57;55	G5E9R8;Q8NCQ7-2	.;.	T	55;57;83;57	ENSP00000301039:A55T;ENSP00000411400:A57T;ENSP00000468747:A83T	ENSP00000301039:A55T	A	-	1	0	PROCA1	24055917	0.002000	0.14202	0.025000	0.17156	0.659000	0.38960	-1.994000	0.01474	-0.751000	0.04734	-0.302000	0.09304	GCC		0.592	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		31	44	0	0	0	1	0	31	44					T	27031790	C	T	27031790	1	4	21	0	1	0	0	0	0	0	0	0	12558	768	27	1		1	PROCA1	17	27031790	IGR	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	512596	27031790	54163420	698	2123										
ZNF207	7756	broad.mit.edu	37	chr17	30694992	30694992	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctacacttacaacaactagtGcaaccagtaagttgatccat	5	11	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:30694992G>A	ENST00000321233.6	+	9	1229	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T	ZNF207_ENST00000394670.4_Missense_Mutation_p.A375T|ZNF207_ENST00000341711.6_Missense_Mutation_p.A276T|ZNF207_ENST00000394673.2_Missense_Mutation_p.A344T|ZNF207_ENST00000342555.6_Missense_Mutation_p.A378T|ZNF207_ENST00000577908.1_Missense_Mutation_p.A375T	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	359	GLEBS.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AACAACTAGTGCAACCAGTAA	0.398																																						ENST00000394670.4																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(1123-1125)Gca>Aca		zinc finger protein 207							122	113	116					17																	30694992		2203	4300	6503	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30694992G>A	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.1075G>A	17.37:g.30694992G>A	ENSP00000322777:p.Ala359Thr		Somatic				ZNF207_ENST00000577908.1_Missense_Mutation_p.A375T|ZNF207_ENST00000394673.2_Missense_Mutation_p.A344T|ZNF207_ENST00000342555.6_Missense_Mutation_p.A378T|ZNF207_ENST00000341711.6_Missense_Mutation_p.A276T|ZNF207_ENST00000321233.6_Missense_Mutation_p.A359T	p.A375T	NM_001098507.1	NP_001091977.1	WXS	Illumina GAIIx	Phase_I	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		10	1292	+		Breast(31;0.116)|Ovarian(249;0.182)	359					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.1123G>A	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	G	36	5.621814	0.96660	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T;T;T	0.50813	0.76;0.85;0.73;0.8	5.91	5.91	0.95273	.	0.046454	0.85682	N	0.000000	T	0.64681	0.2620	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D	0.71674	0.996;0.996;0.996;0.996;0.998	D;D;D;D;D	0.78314	0.99;0.99;0.99;0.99;0.991	T	0.59043	-0.7528	10	0.40728	T	0.16	.	20.2956	0.98549	0.0:0.0:1.0:0.0	.	328;378;375;344;359	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	T	375;328;378;344;276;359	ENSP00000378165:A375T;ENSP00000322777:A344T;ENSP00000344913:A276T;ENSP00000340029:A359T	ENSP00000322777:A344T	A	+	1	0	ZNF207	27719105	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.805000	0.96524	0.460000	0.39030	GCA		0.398	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			37	62	0	0	0	1	0	37	62					A	30694992	G	A	30694992	3	1	21	1	0	0	0	0	1	0	0	0	17780	1319	46	3	1161	3	ZNF207	17	30694992	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3663202	30694992	50500218	699	2124										
SPACA3	124912	broad.mit.edu	37	chr17	31323957	31323957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgggatcttccagatcaacaGccggaggtggtgcagcaacc	13	12	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:31323957G>A	ENST00000269053.3	+	3	510	c.440G>A	c.(439-441)aGc>aAc	p.S147N	SPACA3_ENST00000580599.1_Missense_Mutation_p.S78N|SPACA3_ENST00000394638.1_Missense_Mutation_p.S44N|SPACA3_ENST00000394637.2_3'UTR	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	147					cell wall macromolecule catabolic process (GO:0016998)|defense response to Gram-positive bacterium (GO:0050830)|monocyte activation (GO:0042117)|peptidoglycan catabolic process (GO:0009253)|positive regulation of macrophage activation (GO:0043032)|positive regulation of phagocytosis (GO:0050766)|response to virus (GO:0009615)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|secretory granule (GO:0030141)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CAGATCAACAGCCGGAGGTGG	0.607																																						ENST00000580599.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18						c.(232-234)aGc>aAc		sperm acrosome associated 3							109	97	101					17																	31323957		2203	4300	6503	SO:0001583	missense	124912				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	g.chr17:31323957G>A	AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316			16260	protein-coding gene	gene with protein product	"cancer/testis antigen 54", "sperm lyzozyme-like acrosomal protein 1"	612749				12606493	Standard	NM_173847		Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000269053.3:c.440G>A	17.37:g.31323957G>A	ENSP00000269053:p.Ser147Asn		Somatic				SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000269053.3_Missense_Mutation_p.S147N|SPACA3_ENST00000394638.1_Missense_Mutation_p.S44N	p.S78N			WXS	Illumina GAIIx	Phase_I	Q8IXA5	SACA3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)		4	642	+			147					Q7Z4Y5	Missense_Mutation	SNP	ENST00000269053.3	37	c.233G>A	CCDS11275.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855731	0.51376	.	.	ENSG00000141316	ENST00000269053;ENST00000394638;ENST00000394637;ENST00000411740	T;T	0.78246	-1.16;-1.16	4.71	2.71	0.32032	Lysozyme-like domain (1);	0.058792	0.64402	N	0.000005	T	0.80778	0.4688	L	0.56769	1.78	0.26946	N	0.966133	P	0.47191	0.891	P	0.58780	0.845	T	0.71059	-0.4702	10	0.66056	D	0.02	-0.3464	7.0335	0.24980	0.2058:0.0:0.7942:0.0	.	147	Q8IXA5	SACA3_HUMAN	N	147;44;148;55	ENSP00000269053:S147N;ENSP00000378134:S44N	ENSP00000269053:S147N	S	+	2	0	SPACA3	28348070	1.000000	0.71417	0.867000	0.34043	0.541000	0.35023	5.970000	0.70431	1.203000	0.43233	0.297000	0.19635	AGC		0.607	SPACA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256380.1	NM_173847		61	72	0	0	0	1	0	61	72					A	31323957	G	A	31323957	3	1	21	1	0	0	0	0	1	0	0	0	14988	971	34	3	450	3	SPACA3	17	31323957	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	628965	31323957	49871253	700	2125										
ACCN1	40	broad.mit.edu	37	chr17	32483140	32483140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cttgaagttggccttctgccGcagggcctccagcacggagg	14	13	1	1	rs565904010		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:32483140G>A	ENST00000359872.6	-	1	1173	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	138					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.R138W(1)								Amiloride(DB00594)	GCCTTCTGCCGCAGGGCCTCC	0.592																																						ENST00000359872.6																			1	Substitution - Missense(1)	p.R138W(1)	prostate(1)								c.(412-414)Cgg>Tgg		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						88	96	93					17																	32483140		2135	4247	6382	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.chr17:32483140G>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.412C>T	17.37:g.32483140G>A	ENSP00000352934:p.Arg138Trp		Somatic					p.R138W	NM_001094.4	NP_001085.2	WXS	Illumina GAIIx	Phase_I	Q16515	ACCN1_HUMAN			1	1173	-			138					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.412C>T	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582413	0.46006	.	.	ENSG00000108684	ENST00000359872	T	0.64085	-0.08	4.96	-1.46	0.08800	.	.	.	.	.	T	0.72309	0.3444	M	0.76838	2.35	0.23769	N	0.996891	P	0.35527	0.507	P	0.48488	0.579	T	0.70920	-0.4741	9	0.59425	D	0.04	.	14.6773	0.68989	0.0:0.0:0.3391:0.6609	.	138	Q16515	ACCN1_HUMAN	W	138	ENSP00000352934:R138W	ENSP00000352934:R138W	R	-	1	2	ACCN1	29507253	0.993000	0.37304	1.000000	0.80357	0.956000	0.61745	2.890000	0.48609	-0.052000	0.13311	-0.274000	0.10170	CGG		0.592	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		50	73	0	0	0	1	0	50	73					A	32483140	G	A	32483140	3	1	21	1	0	0	0	0	1	0	0	0	128	1086	38	1	1878	1	ACCN1	17	32483140	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1159183	32483140	48712070	701	2126										
GAS2L2	246176	broad.mit.edu	37	chr17	34074161	34074161	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tatatgtcttccagtccacaGggggtggtgggctctgtgag	15	8	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:34074161G>T	ENST00000254466.6	-	5	986	c.959C>A	c.(958-960)cCt>cAt	p.P320H	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P304H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	320					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)		CCAGTCCACAGGGGGTGGTGG	0.652																																						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.(958-960)cCt>cAt		growth arrest-specific 2 like 2							92	99	97					17																	34074161		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34074161G>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.959C>A	17.37:g.34074161G>T	ENSP00000254466:p.Pro320His		Somatic				GAS2L2_ENST00000587565.1_Missense_Mutation_p.P304H	p.P320H	NM_139285.3	NP_644814.1	WXS	Illumina GAIIx	Phase_I	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	986	-		Ovarian(249;0.17)	320					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.959C>A	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826298	0.50739	.	.	ENSG00000132139	ENST00000254466	T	0.23754	1.89	5.1	5.1	0.69264	.	0.231405	0.35262	N	0.003335	T	0.36082	0.0954	L	0.50333	1.59	0.38893	D	0.957158	D	0.52996	0.957	P	0.51582	0.674	T	0.22243	-1.0222	10	0.87932	D	0	-3.6477	15.3692	0.74548	0.0:0.0:1.0:0.0	.	320	Q8NHY3	GA2L2_HUMAN	H	320	ENSP00000254466:P320H	ENSP00000254466:P320H	P	-	2	0	GAS2L2	31098274	1.000000	0.71417	0.329000	0.25429	0.124000	0.20399	5.728000	0.68531	2.644000	0.89710	0.561000	0.74099	CCT		0.652	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		70	98	1	0	4.79706e-38	1	5.40055e-38	70	98					T	34074161	G	T	34074161	3	4	21	1	0	0	0	0	1	0	0	0	6255	1000	35	5	1691	5	GAS2L2	17	34074161	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1591021	34074161	47121049	702	2127										
TAF15	8148	broad.mit.edu	37	chr17	34171886	34171886	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctatggaggagacagaagccGggggggctatggaggagacc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:34171886delG	ENST00000588240.1	+	15	1698	c.1583delG	c.(1582-1584)cggfs	p.R528fs	TAF15_ENST00000311979.3_Frame_Shift_Del_p.R525fs|TAF15_ENST00000592237.1_Frame_Shift_Del_p.G334fs	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gACAGAAGCCGGGGGGGCTAT	0.612			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"			"L, M"	"TEC, CHN1, ZNF384"		"extraskeletal myxoid chondrosarcomas, ALL"	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1582-1584)cgfs		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							72	78	76					17																	34171886		2203	4300	6503	SO:0001589	frameshift_variant	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171886delG	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.1583delG	17.37:g.34171886delG	ENSP00000466950:p.Arg528fs		Somatic				TAF15_ENST00000311979.3_Frame_Shift_Del_p.R525fs|TAF15_ENST00000592237.1_Frame_Shift_Del_p.G334fs	p.R528fs	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)	15	1698	+		Ovarian(249;0.17)	528			21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Frame_Shift_Del	DEL	ENST00000588240.1	37	c.1583delG	CCDS32623.1																																																																																				0.612	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		44	63						44	63	---	---	---	---	-	34171886	G	-	34171886	7	5	21	1	0	1	0	1	0	0	0	0	15533	1116	39	0	1641	0	TAF15	17	34171886	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	97725	34171886	47023324	703	2128										
GRB7	2886	broad.mit.edu	37	chr17	37899524	37899524	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttcgtcttccggaaaaacttCgccaagtacgaactgttcaa	7	11	2	0	rs145171655		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:37899524C>T	ENST00000309156.4	+	5	812	c.555C>T	c.(553-555)ttC>ttT	p.F185F	GRB7_ENST00000309185.3_Silent_p.F185F|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000445327.2_Silent_p.F208F|GRB7_ENST00000394209.2_Silent_p.F185F|GRB7_ENST00000394204.1_Silent_p.F185F|GRB7_ENST00000394211.3_Silent_p.F185F	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	185	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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)			GGAAAAACTTCGCCAAGTACG	0.617																																						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.(553-555)ttC>ttT		growth factor receptor-bound protein 7		C	,,,	0,4406		0,0,2203	88	85	86		555,624,555,555	0.3	1	17	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GRB7	NM_001030002.2,NM_001242442.1,NM_001242443.1,NM_005310.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	185/533,208/556,185/533,185/533	37899524	1,13005	2203	4300	6503	SO:0001819	synonymous_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.chr17:37899524C>T	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.555C>T	17.37:g.37899524C>T			Somatic				GRB7_ENST00000445327.2_Silent_p.F208F|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394209.2_Silent_p.F185F|GRB7_ENST00000394211.3_Silent_p.F185F|GRB7_ENST00000309185.3_Silent_p.F185F|GRB7_ENST00000394204.1_Silent_p.F185F	p.F185F	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)		5	812	+	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)		185			Ras-associating.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Silent	SNP	ENST00000309156.4	37	c.555C>T	CCDS11345.1																																																																																				0.617	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		50	51	0	0	0	1	0	50	51					T	37899524	C	T	37899524	2	4	21	1	0	0	0	0	0	0	0	1	6768	883	31	1		1	GRB7	17	37899524	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3727638	37899524	43295686	704	2129										
KRT222	125113	broad.mit.edu	37	chr17	38818272	38818272	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agcctcttcatctttgtccaTttttttgcttatgtcttctt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:38818272delT	ENST00000476049.1	-	2	162	c.121delA	c.(121-123)atgfs	p.M41fs	KRT222_ENST00000394052.3_Frame_Shift_Del_p.M41fs			Q8N1A0	KT222_HUMAN	keratin 222	41						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TCTTTGTCCATTTTTTTGCTT	0.428																																						ENST00000476049.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						c.(121-123)tgfs		keratin 222							129	122	124					17																	38818272		2203	4300	6503	SO:0001589	frameshift_variant	125113					intermediate filament	structural molecule activity	g.chr17:38818272delT	AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"-"	28695	protein-coding gene	gene with protein product			"keratin 222 pseudogene"	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.121delA	17.37:g.38818272delT	ENSP00000463483:p.Met41fs		Somatic				KRT222_ENST00000394052.3_Frame_Shift_Del_p.M41fs	p.M41fs			WXS	Illumina GAIIx	Phase_I	Q8N1A0	KT222_HUMAN			2	162	-			41					Q7Z368	Frame_Shift_Del	DEL	ENST00000476049.1	37	c.121delA	CCDS11371.1																																																																																				0.428	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000447539.1	NM_152349		65	97						65	97	---	---	---	---	-	38818272	T	-	38818272	7	5	21	1	0	1	0	1	0	0	0	0	8468	1493	52	0	786	0	KRT222	17	38818272	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	918748	38818272	42376938	705	2130										
TMEM106A	113277	broad.mit.edu	37	chr17	41369782	41369782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atgtggactgccgaggaaacGcatctgtgccccaccagctg	12	13	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:41369782G>A	ENST00000331615.3	+	9	988	c.751G>A	c.(751-753)Gca>Aca	p.A251T	LINC00854_ENST00000593624.1_RNA|TMEM106A_ENST00000536052.1_Missense_Mutation_p.A204T|LINC00854_ENST00000427995.1_RNA|LINC00854_ENST00000595400.1_RNA|TMEM106A_ENST00000588659.1_Missense_Mutation_p.A251T|TMEM106A_ENST00000541594.1_Missense_Mutation_p.A203T	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	251						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		CCGAGGAAACGCATCTGTGCC	0.577																																						ENST00000331615.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(751-753)Gca>Aca		transmembrane protein 106A							235	210	218					17																	41369782		2203	4296	6499	SO:0001583	missense	113277					integral to membrane		g.chr17:41369782G>A	AK056132	CCDS11462.1, CCDS74073.1	17q21.31	2012-01-23			ENSG00000184988	ENSG00000184988			28288	protein-coding gene	gene with protein product							Standard	XM_006721658		Approved	MGC20235	uc002idn.1	Q96A25		ENST00000331615.3:c.751G>A	17.37:g.41369782G>A	ENSP00000330774:p.Ala251Thr		Somatic				TMEM106A_ENST00000536052.1_Missense_Mutation_p.A204T|TMEM106A_ENST00000541594.1_Missense_Mutation_p.A203T|TMEM106A_ENST00000588659.1_Missense_Mutation_p.A251T|LINC00854_ENST00000427995.1_RNA	p.A251T	NM_145041.1	NP_659478.1	WXS	Illumina GAIIx	Phase_I	Q96A25	T106A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	9	988	+		Breast(137;0.0164)	251					A8K2X2|B7Z698	Missense_Mutation	SNP	ENST00000331615.3	37	c.751G>A	CCDS11462.1	.	.	.	.	.	.	.	.	.	.	G	2.756	-0.258914	0.05791	.	.	ENSG00000184988	ENST00000331615;ENST00000536052;ENST00000541594	T;T;T	0.18810	2.19;2.19;2.19	5.09	-4.74	0.03249	.	0.880759	0.09940	N	0.736024	T	0.04227	0.0117	N	0.01235	-0.94	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.31280	-0.9949	10	0.02654	T	1	-19.6005	4.397	0.11367	0.2474:0.0:0.3409:0.4116	.	204;203;251	B7Z779;B7Z698;Q96A25	.;.;T106A_HUMAN	T	251;204;203	ENSP00000330774:A251T;ENSP00000439835:A204T;ENSP00000439844:A203T	ENSP00000330774:A251T	A	+	1	0	TMEM106A	38725308	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.057000	0.11768	-1.290000	0.02372	-0.302000	0.09304	GCA		0.577	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453470.2	NM_145041		127	183	0	0	0	1	0	127	183					A	41369782	G	A	41369782	3	1	21	1	0	0	0	0	1	0	0	0	16035	1087	38	1	777	1	TMEM106A	17	41369782	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2551510	41369782	39825428	706	2131										
ATXN7L3	56970	broad.mit.edu	37	chr17	42272160	42272160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agggcccgagaaaataaatcCgtacggttcgcctctgctca	10	12	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:42272160C>T	ENST00000454077.2	-	10	733	c.734G>A	c.(733-735)cGg>cAg	p.R245Q	ATXN7L3_ENST00000593073.1_5'UTR|ATXN7L3_ENST00000389384.4_Missense_Mutation_p.R238Q	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AAAATAAATCCGTACGGTTCG	0.577																																						ENST00000389384.4																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(712-714)cGg>cAg		ataxin 7-like 3							29	33	32					17																	42272160		1999	4170	6169	SO:0001583	missense	56970				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding	g.chr17:42272160C>T	AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.734G>A	17.37:g.42272160C>T	ENSP00000397259:p.Arg245Gln		Somatic				ATXN7L3_ENST00000593073.1_5'UTR|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.R245Q	p.R238Q	NM_001098833.1	NP_001092303.1	WXS	Illumina GAIIx	Phase_I	Q14CW9	AT7L3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	10	1021	-		Breast(137;0.00765)|Prostate(33;0.0181)	238			SCA7.			Missense_Mutation	SNP	ENST00000454077.2	37	c.713G>A	CCDS45697.1	.	.	.	.	.	.	.	.	.	.	C	36	5.672548	0.96754	.	.	ENSG00000087152	ENST00000454077;ENST00000389384;ENST00000541672	.	.	.	4.51	4.51	0.55191	SCA7 domain (1);	0.060685	0.64402	D	0.000006	T	0.60728	0.2291	L	0.52905	1.665	0.46749	D	0.999181	D;D	0.56521	0.962;0.976	P;P	0.48334	0.555;0.574	T	0.67193	-0.5732	9	0.66056	D	0.02	.	16.1612	0.81712	0.0:1.0:0.0:0.0	.	238;245	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	Q	245;238;20	.	ENSP00000374035:R238Q	R	-	2	0	ATXN7L3	39627686	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.502000	0.66956	2.334000	0.79466	0.561000	0.74099	CGG		0.577	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1			12	21	0	0	0	1	0	12	21					T	42272160	C	T	42272160	3	4	21	1	0	0	0	0	1	0	0	0	1218	652	23	1	342	1	ATXN7L3	17	42272160	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	902378	42272160	38923050	707	2132										
ARHGAP27	201176	broad.mit.edu	37	chr17	43473179	43473179	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcagcgagcgcaccaagtcaCgcacacagcggctgcgccgg	14	16	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:43473179C>A	ENST00000428638.1	-	16	2422	c.2423G>T	c.(2422-2424)cGt>cTt	p.R808L	ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R781L|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R440L|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.R586L|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R467L|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R467L|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R786L			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	808	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CACCAAGTCACGCACACAGCG	0.692																																						ENST00000532038.1																			0				endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17						c.(1756-1758)cGt>cTt		Rho GTPase activating protein 27							11	13	13					17																	43473179		2183	4274	6457	SO:0001583	missense	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43473179C>A	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	31813	protein-coding gene	gene with protein product		610591	"SH3 domain containing 20"	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.2423G>T	17.37:g.43473179C>A	ENSP00000403323:p.Arg808Leu		Somatic				ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R467L|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R440L|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R808L|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R781L|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R786L|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R467L	p.R586L			WXS	Illumina GAIIx	Phase_I	Q6ZUM4	RHG27_HUMAN			15	1892	-	Renal(3;0.0405)		808			PH.		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	ENST00000428638.1	37	c.1757G>T		.	.	.	.	.	.	.	.	.	.	C	13.91	2.377395	0.42105	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09	4.77	3.8	0.43715	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.483859	0.21855	N	0.068114	T	0.29684	0.0741	L	0.58428	1.81	0.21878	N	0.999498	P;D	0.54964	0.815;0.969	B;P	0.52909	0.209;0.713	T	0.09596	-1.0667	10	0.87932	D	0	.	7.519	0.27616	0.0:0.8077:0.0:0.1923	.	781;808	F8WBX1;Q6ZUM4	.;RHG27_HUMAN	L	586;467;440;786;808;781;467	ENSP00000432762:R586L;ENSP00000366121:R467L;ENSP00000431591:R440L;ENSP00000433942:R786L;ENSP00000403323:R808L;ENSP00000409330:R781L;ENSP00000408235:R467L	ENSP00000366121:R467L	R	-	2	0	ARHGAP27	40828962	0.745000	0.28261	0.081000	0.20488	0.010000	0.07245	1.887000	0.39698	1.237000	0.43756	0.643000	0.83706	CGT		0.692	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		10	13	1	0	0.00621372	1	0.00627814	10	13					A	43473179	C	A	43473179	3	1	21	1	0	0	0	0	1	0	0	0	876	536	19	5	254	5	ARHGAP27	17	43473179	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1201019	43473179	37722031	708	2133										
ARHGAP27	201176	broad.mit.edu	37	chr17	43474152	43474152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cccacggggcccagggcgggCgcggctgccgcggggaaagg	21	14	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:43474152C>T	ENST00000428638.1	-	12	1955	c.1956G>A	c.(1954-1956)gcG>gcA	p.A652A	ARHGAP27_ENST00000442348.1_Silent_p.A625A|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000528384.1_Silent_p.A284A|ARHGAP27_ENST00000532038.1_Silent_p.A430A|ARHGAP27_ENST00000376922.2_Silent_p.A311A|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000455881.1_Silent_p.A311A|ARHGAP27_ENST00000532891.2_Silent_p.A630A			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	652					positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CCAGGGCGGGCGCGGCTGCCG	0.716																																						ENST00000532038.1																			0				endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17						c.(1288-1290)gcG>gcA		Rho GTPase activating protein 27							15	18	17					17																	43474152		2196	4284	6480	SO:0001819	synonymous_variant	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43474152C>T	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	31813	protein-coding gene	gene with protein product		610591	"SH3 domain containing 20"	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1956G>A	17.37:g.43474152C>T			Somatic				ARHGAP27_ENST00000455881.1_Silent_p.A311A|ARHGAP27_ENST00000528384.1_Silent_p.A284A|ARHGAP27_ENST00000428638.1_Silent_p.A652A|ARHGAP27_ENST00000442348.1_Silent_p.A625A|ARHGAP27_ENST00000532891.2_Silent_p.A630A|ARHGAP27_ENST00000376922.2_Silent_p.A311A	p.A430A			WXS	Illumina GAIIx	Phase_I	Q6ZUM4	RHG27_HUMAN			11	1425	-	Renal(3;0.0405)		652			WW 3.		A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Silent	SNP	ENST00000428638.1	37	c.1290G>A																																																																																					0.716	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		9	25	0	0	0	1	0	9	25					T	43474152	C	T	43474152	2	4	21	1	0	0	0	0	0	0	0	1	876	755	27	1		1	ARHGAP27	17	43474152	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	973	43474152	37721058	709	2134										
HOXB1	3211	broad.mit.edu	37	chr17	46607839	46607839	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cggtctgctcgttcccataaGggggatgctgcggaggatat							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:46607839delG	ENST00000239174.6	-	1	520	c.428delC	c.(427-429)cctfs	p.P143fs	HOXB1_ENST00000577092.1_Frame_Shift_Del_p.P143fs	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	143					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						GTTCCCATAAGGGGGATGCTG	0.617																																						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.(427-429)ctfs		homeobox B1							59	62	61					17																	46607839		2203	4300	6503	SO:0001589	frameshift_variant	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607839delG		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.428delC	17.37:g.46607839delG	ENSP00000355140:p.Pro143fs		Somatic				HOXB1_ENST00000577092.1_Frame_Shift_Del_p.P143fs	p.P143fs	NM_002144.3	NP_002135.2	WXS	Illumina GAIIx	Phase_I	P14653	HXB1_HUMAN			1	520	-			143					Q4VB03	Frame_Shift_Del	DEL	ENST00000239174.6	37	c.428delC	CCDS32675.1																																																																																				0.617	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			27	53						27	53	---	---	---	---	-	46607839	G	-	46607839	7	5	21	1	0	1	0	1	0	0	0	0	7308	1000	35	0	485	0	HOXB1	17	46607839	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3133687	46607839	34587371	710	2135										
B4GALNT2	124872	broad.mit.edu	37	chr17	47243577	47243577	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aacgaggagaccaagattgaGgtgctggtggatgtcctgga	16	6	0	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:47243577G>T	ENST00000300404.2	+	9	1295	c.1236G>T	c.(1234-1236)gaG>gaT	p.E412D	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.E352D|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.E326D	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	412					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCAAGATTGAGGTGCTGGTGG	0.502																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1234-1236)gaG>gaT		beta-1,4-N-acetyl-galactosaminyl transferase 2							121	103	109					17																	47243577		2203	4300	6503	SO:0001583	missense	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47243577G>T	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1236G>T	17.37:g.47243577G>T	ENSP00000300404:p.Glu412Asp		Somatic				B4GALNT2_ENST00000504681.1_Missense_Mutation_p.E326D|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.E352D	p.E412D	NM_153446.2	NP_703147.2	WXS	Illumina GAIIx	Phase_I	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		9	1295	+			412					B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.1236G>T	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562879	0.65538	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.68025	-0.3;-0.3;-0.3	5.8	2.59	0.31030	Glycosyl transferase, family 2 (1);	0.061106	0.64402	D	0.000006	T	0.71143	0.3305	M	0.70595	2.14	0.38536	D	0.94909	D;P	0.65815	0.995;0.898	P;P	0.57548	0.823;0.567	T	0.71879	-0.4459	10	0.62326	D	0.03	-40.4794	4.2843	0.10848	0.3227:0.1605:0.5168:0.0	.	352;412	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	D	326;352;412	ENSP00000425510:E326D;ENSP00000377022:E352D;ENSP00000300404:E412D	ENSP00000300404:E412D	E	+	3	2	B4GALNT2	44598576	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	2.271000	0.43364	0.795000	0.33922	0.655000	0.94253	GAG		0.502	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		31	38	1	0	5.77227e-19	1	6.33577e-19	31	38					T	47243577	G	T	47243577	3	4	21	1	0	0	0	0	1	0	0	0	1267	991	35	5	1288	5	B4GALNT2	17	47243577	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	635738	47243577	33951633	711	2136										
BCAS3	54828	broad.mit.edu	37	chr17	58767096	58767096	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aaaggagaaaatagtctgggTcagatttgaaaatgcagatt	11	3	2	4			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:58767096T>C	ENST00000390652.5	+	4	219	c.188T>C	c.(187-189)gTc>gCc	p.V63A	BCAS3_ENST00000588462.1_Missense_Mutation_p.V63A|BCAS3_ENST00000407086.3_Missense_Mutation_p.V63A|BCAS3_ENST00000408905.3_Missense_Mutation_p.V63A|BCAS3_ENST00000589222.1_Missense_Mutation_p.V63A	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ATAGTCTGGGTCAGATTTGAA	0.328																																						ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(187-189)gTc>gCc		breast carcinoma amplified sequence 3							135	138	137					17																	58767096		1804	4064	5868	SO:0001583	missense	54828					nucleus		g.chr17:58767096T>C	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.188T>C	17.37:g.58767096T>C	ENSP00000375067:p.Val63Ala		Somatic				BCAS3_ENST00000407086.3_Missense_Mutation_p.V63A|BCAS3_ENST00000408905.3_Missense_Mutation_p.V63A|BCAS3_ENST00000588462.1_Missense_Mutation_p.V63A|BCAS3_ENST00000390652.5_Missense_Mutation_p.V63A	p.V63A			WXS	Illumina GAIIx	Phase_I	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		4	256	+			63						Missense_Mutation	SNP	ENST00000390652.5	37	c.188T>C	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	T	6.138	0.393690	0.11638	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905	T;T;T	0.04049	3.72;3.72;3.72	5.14	5.14	0.70334	.	0.056498	0.64402	D	0.000001	T	0.02571	0.0078	N	0.11201	0.11	0.80722	D	1	B;B;B	0.32573	0.202;0.064;0.376	B;B;B	0.27887	0.039;0.028;0.084	T	0.36768	-0.9734	10	0.02654	T	1	.	14.6019	0.68447	0.0:0.0:0.0:1.0	.	63;63;63	Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;BCAS3_HUMAN;.	A	63	ENSP00000375067:V63A;ENSP00000385323:V63A;ENSP00000386173:V63A	ENSP00000375067:V63A	V	+	2	0	BCAS3	56121878	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.898000	0.69838	1.928000	0.55862	0.383000	0.25322	GTC		0.328	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		19	30	0	0	0	1	0	19	30					C	58767096	T	C	58767096	3	2	21	1	0	0	0	0	1	0	0	0	1352	1667	58	4	198	4	BCAS3	17	58767096	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	11523519	58767096	22428114	712	2137										
MED13	9969	broad.mit.edu	37	chr17	60059865	60059865	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atgttcagcagaggtagcccTgagagcttcaaaacgttttt	10	8	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:60059865T>C	ENST00000397786.2	-	16	3575	c.3499A>G	c.(3499-3501)Agg>Ggg	p.R1167G		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1167					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						GAGGTAGCCCTGAGAGCTTCA	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.(3499-3501)Agg>Ggg		mediator complex subunit 13							124	112	116					17																	60059865		1874	4113	5987	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.chr17:60059865T>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.3499A>G	17.37:g.60059865T>C	ENSP00000380888:p.Arg1167Gly		Somatic					p.R1167G	NM_005121.2	NP_005112.2	WXS	Illumina GAIIx	Phase_I	Q9UHV7	MED13_HUMAN			16	3575	-			1167					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.3499A>G	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.781575	0.49891	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74947	-0.89	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.83064	0.5173	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.82963	-0.0196	10	0.44086	T	0.13	-8.0014	12.6978	0.57014	0.0:0.0:0.1373:0.8627	.	1167	Q9UHV7	MED13_HUMAN	G	1167;1166	ENSP00000380888:R1167G	ENSP00000262436:R1166G	R	-	1	2	MED13	57414647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.816000	0.55658	2.224000	0.72417	0.528000	0.53228	AGG		0.348	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		43	55	0	0	0	1	0	43	55					C	60059865	T	C	60059865	3	2	21	1	0	0	0	0	1	0	0	0	9439	1579	55	4	3085	4	MED13	17	60059865	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1292769	60059865	21135345	713	2138										
ABCA6	23460	broad.mit.edu	37	chr17	67081776	67081776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcctcactacctctccagcaGttggctttgtgatcccagat	7	14	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:67081776G>A	ENST00000284425.2	-	31	4193	c.4019C>T	c.(4018-4020)aCt>aTt	p.T1340I	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1340	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTCTCCAGCAGTTGGCTTTGT	0.358																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(4018-4020)aCt>aTt		ATP-binding cassette, sub-family A (ABC1), member 6							96	85	88					17																	67081776		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67081776G>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4019C>T	17.37:g.67081776G>A	ENSP00000284425:p.Thr1340Ile		Somatic				ABCA6_ENST00000446604.2_5'UTR	p.T1340I	NM_080284.2	NP_525023.2	WXS	Illumina GAIIx	Phase_I	Q8N139	ABCA6_HUMAN			31	4193	-	Breast(10;5.65e-12)		1340			ABC transporter 2.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.4019C>T	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005626	0.54254	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.94330	-3.4	4.66	4.66	0.58398	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.135506	0.33916	N	0.004432	D	0.97714	0.9250	H	0.95679	3.705	0.80722	D	1	D	0.62365	0.991	D	0.79784	0.993	D	0.98792	1.0736	10	0.87932	D	0	.	17.0615	0.86548	0.0:0.0:1.0:0.0	.	1340	Q8N139	ABCA6_HUMAN	I	1340;200	ENSP00000284425:T1340I	ENSP00000284425:T1340I	T	-	2	0	ABCA6	64593371	1.000000	0.71417	0.979000	0.43373	0.149000	0.21700	8.424000	0.90267	2.576000	0.86940	0.650000	0.86243	ACT		0.358	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		13	15	0	0	0	1	0	13	15					A	67081776	G	A	67081776	3	1	21	1	0	0	0	0	1	0	0	0	36	1029	36	3	870	3	ABCA6	17	67081776	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	7021911	67081776	14113434	714	2139										
GPR142	350383	broad.mit.edu	37	chr17	72368690	72368690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acagccagagggcatggcggCgaagcctgtgatggagcctc	16	11	0	2	rs544945480		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:72368690C>T	ENST00000335666.4	+	4	1388	c.1340C>T	c.(1339-1341)gCg>gTg	p.A447V		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	447						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A447E(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GGCATGGCGGCGAAGCCTGTG	0.617													C|||	1	0.000199681	0	0	5008	,	,		17900	0		0.001	False		,,,				2504	0					ENST00000335666.4																			1	Substitution - Missense(1)	p.A447E(1)	lung(1)	central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(1339-1341)gCg>gTg		G protein-coupled receptor 142							28	27	28					17																	72368690		2198	4298	6496	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368690C>T	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.1340C>T	17.37:g.72368690C>T	ENSP00000335158:p.Ala447Val		Somatic					p.A447V	NM_181790.1	NP_861455.1	WXS	Illumina GAIIx	Phase_I	Q7Z601	GP142_HUMAN			4	1388	+			447					A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.1340C>T	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	C	7.376	0.627734	0.14257	.	.	ENSG00000257008	ENST00000335666	T	0.68181	-0.31	4.62	-9.23	0.00672	.	1.668210	0.03974	N	0.292270	T	0.46132	0.1377	N	0.11560	0.145	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.51795	-0.8660	10	0.25106	T	0.35	0.2383	16.5104	0.84283	0.0882:0.6856:0.0:0.2262	.	447;1409	Q7Z601;Q8NGB0	GP142_HUMAN;.	V	447	ENSP00000335158:A447V	ENSP00000335158:A447V	A	+	2	0	GPR142	69880285	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.636000	0.00867	-3.486000	0.00154	-1.060000	0.02296	GCG		0.617	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		14	28	0	0	0	1	0	14	28					T	72368690	C	T	72368690	3	4	21	1	0	0	0	0	1	0	0	0	6658	768	27	1	1354	1	GPR142	17	72368690	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	5286914	72368690	8826520	715	2140										
CD300A	11314	broad.mit.edu	37	chr17	72470735	72470735	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcaacaatcacaactgcattTccacctgtatcatccactac	2	15	3	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:72470735T>C	ENST00000360141.3	+	3	732	c.444T>C	c.(442-444)ttT>ttC	p.F148F	CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_Silent_p.F18F|CD300A_ENST00000392625.3_Silent_p.F35F|CD300A_ENST00000310828.5_Silent_p.F35F	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	148					cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CAACTGCATTTCCACCTGTAT	0.532																																						ENST00000360141.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						c.(442-444)ttT>ttC		CD300a molecule							223	162	183					17																	72470735		2203	4300	6503	SO:0001819	synonymous_variant	11314				cell adhesion	integral to membrane|plasma membrane	receptor activity	g.chr17:72470735T>C	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19319	protein-coding gene	gene with protein product		606790	"CD300a antigen"			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.444T>C	17.37:g.72470735T>C			Somatic				CD300A_ENST00000392625.3_Silent_p.F35F|CD300A_ENST00000310828.5_Silent_p.F35F|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_Silent_p.F18F	p.F148F	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	WXS	Illumina GAIIx	Phase_I	Q9UGN4	CLM8_HUMAN			3	732	+			148					A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Silent	SNP	ENST00000360141.3	37	c.444T>C	CCDS32720.1																																																																																				0.532	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		49	69	0	0	0	1	0	49	69					C	72470735	T	C	72470735	2	2	21	1	0	0	0	0	0	0	0	1	2998	1780	62	4		4	CD300A	17	72470735	Silent	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	102045	72470735	8724475	716	2141										
RHBDF2	79651	broad.mit.edu	37	chr17	74469406	74469406	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tattcccgggtggtgatctcAcagctaagggggtggtgagg	17	7	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:74469406A>G	ENST00000313080.4	-	16	2097	c.1824T>C	c.(1822-1824)tgT>tgC	p.C608C	RHBDF2_ENST00000389760.4_Silent_p.C579C|RHBDF2_ENST00000591885.1_Silent_p.C579C	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	608					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						TGGTGATCTCACAGCTAAGGG	0.597																																						ENST00000591885.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						c.(1735-1737)tgT>tgC		rhomboid 5 homolog 2 (Drosophila)							75	48	57					17																	74469406		2203	4300	6503	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.chr17:74469406A>G	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.1824T>C	17.37:g.74469406A>G			Somatic				RHBDF2_ENST00000389760.4_Silent_p.C579C|RHBDF2_ENST00000313080.4_Silent_p.C608C	p.C579C			WXS	Illumina GAIIx	Phase_I	Q6PJF5	RHDF2_HUMAN			16	2287	-			608					A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP	ENST00000313080.4	37	c.1737T>C	CCDS32743.1																																																																																				0.597	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		17	13	0	0	0	1	0	17	13					G	74469406	A	G	74469406	2	3	21	1	0	0	0	0	0	0	0	1	13335	157	6	4		4	RHBDF2	17	74469406	Silent	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	1998671	74469406	6725804	717	2142										
DNAH17	8632	broad.mit.edu	37	chr17	76425217	76425217	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cttaccttgtagtccaggttGggggggatctgaaagccggg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:76425217delG	ENST00000585328.1	-	76	12499	c.12375delC	c.(12373-12375)cccfs	p.P4125fs	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Frame_Shift_Del_p.P4124fs	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	4124					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)			AGTCCAGGTTGGGGGGGATCT	0.582																																						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.(12370-12372)ccfs		dynein, axonemal, heavy chain 17							80	86	84					17																	76425217		2203	4300	6503	SO:0001589	frameshift_variant	8632							g.chr17:76425217delG	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.12375delC	17.37:g.76425217delG	ENSP00000465516:p.Pro4125fs		Somatic				DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Frame_Shift_Del_p.P4125fs	p.P4124fs			WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		76	12496	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Frame_Shift_Del	DEL	ENST00000585328.1	37	c.12372delC																																																																																					0.582	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		42	132						42	132	---	---	---	---	-	76425217	G	-	76425217	7	5	21	1	0	1	0	1	0	0	0	0	4603	1335	47	0	1022	0	DNAH17	17	76425217	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1955811	76425217	4769993	718	2143										
CANT1	124583	broad.mit.edu	37	chr17	76989847	76989847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgccccgacgtggctcacagCgatgtcgccgaagtcagggg	15	14	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:76989847C>T	ENST00000302345.2	-	4	1485	c.991G>A	c.(991-993)Gct>Act	p.A331T	CANT1_ENST00000392446.5_Missense_Mutation_p.A331T|CANT1_ENST00000591773.1_Missense_Mutation_p.A331T	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	331					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)			TGGCTCACAGCGATGTCGCCG	0.657			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.(991-993)Gct>Act		calcium activated nucleotidase 1							66	54	58					17																	76989847		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.chr17:76989847C>T	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"Soluble Ca-Activated Nucleotidase, isozyme 1"	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.991G>A	17.37:g.76989847C>T	ENSP00000307674:p.Ala331Thr		Somatic				CANT1_ENST00000591773.1_Missense_Mutation_p.A331T|CANT1_ENST00000392446.5_Missense_Mutation_p.A331T	p.A331T	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)		4	1485	-			331					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.991G>A	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	C	4.669	0.124308	0.08931	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000339300	D;D	0.84800	-1.9;-1.9	5.26	-6.59	0.01830	.	1.103620	0.06787	N	0.786307	T	0.60301	0.2258	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51116	-0.8746	10	0.27082	T	0.32	-6.2785	8.505	0.33181	0.1433:0.3679:0.0:0.4888	.	331	Q8WVQ1	CANT1_HUMAN	T	331;331;280	ENSP00000307674:A331T;ENSP00000376241:A331T	ENSP00000307674:A331T	A	-	1	0	CANT1	74501442	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.783000	0.04638	-1.199000	0.02666	-1.130000	0.01982	GCT		0.657	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		28	39	0	0	0	1	0	28	39					T	76989847	C	T	76989847	3	4	21	1	0	0	0	0	1	0	0	0	2619	768	27	1	218	1	CANT1	17	76989847	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	564630	76989847	4205363	719	2144										
TBC1D16	125058	broad.mit.edu	37	chr17	77984212	77984212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gctgcaagcaggctgcgaggCtggctgggcaccatccaccc	14	15	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:77984212C>T	ENST00000310924.2	-	3	641	c.526G>A	c.(526-528)Gcc>Acc	p.A176T		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	176							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)			GGCTGCGAGGCTGGCTGGGCA	0.706																																					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.(526-528)Gcc>Acc		TBC1 domain family, member 16							21	24	23					17																	77984212		2197	4298	6495	SO:0001583	missense	125058					intracellular	Rab GTPase activator activity	g.chr17:77984212C>T	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.526G>A	17.37:g.77984212C>T	ENSP00000309794:p.Ala176Thr		Somatic					p.A176T	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)		3	641	-	all_neural(118;0.167)		176					B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	ENST00000310924.2	37	c.526G>A	CCDS11766.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.981891	0.00448	.	.	ENSG00000167291	ENST00000310924	T	0.08193	3.12	4.58	2.55	0.30701	.	2.611080	0.01179	N	0.007045	T	0.04543	0.0124	N	0.08118	0	0.25580	N	0.986801	B	0.02656	0.0	B	0.06405	0.002	T	0.37174	-0.9717	10	0.12103	T	0.63	-22.1405	3.4198	0.07389	0.2709:0.5086:0.0:0.2205	.	176	Q8TBP0	TBC16_HUMAN	T	176	ENSP00000309794:A176T	ENSP00000309794:A176T	A	-	1	0	TBC1D16	75598807	0.003000	0.15002	0.178000	0.23040	0.088000	0.18126	-0.060000	0.11712	0.893000	0.36288	0.591000	0.81541	GCC		0.706	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		6	27	0	0	0	1	0	6	27					T	77984212	C	T	77984212	3	4	21	1	0	0	0	0	1	0	0	0	15620	797	28	3	1817	3	TBC1D16	17	77984212	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	994365	77984212	3210998	720	2145										
ARL16	339231	broad.mit.edu	37	chr17	79650090	79650090	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	actggaccagatggggcccaTgcaccccccaagctcccgga	11	17	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:79650090T>C	ENST00000397498.4	-	3	357	c.259A>G	c.(259-261)Atg>Gtg	p.M87V	ARL16_ENST00000570561.1_Start_Codon_SNP_p.M1V|ARL16_ENST00000573392.1_Intron|HGS_ENST00000329138.4_5'Flank|ARL16_ENST00000576135.1_Start_Codon_SNP_p.M1V|ARL16_ENST00000574938.1_Intron	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	87					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)			ATGGGGCCCATGCACCCCCCA	0.488																																						ENST00000397498.4																			0				central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7						c.(259-261)Atg>Gtg		ADP-ribosylation factor-like 16							150	163	159					17																	79650090		1937	4123	6060	SO:0001583	missense	339231						GTP binding	g.chr17:79650090T>C		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.259A>G	17.37:g.79650090T>C	ENSP00000380635:p.Met87Val		Somatic				ARL16_ENST00000573392.1_Intron|ARL16_ENST00000574938.1_Intron|ARL16_ENST00000576135.1_Start_Codon_SNP_p.M1V|ARL16_ENST00000570561.1_Start_Codon_SNP_p.M1V	p.M87V	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)		3	357	-	all_neural(118;0.0878)|all_lung(278;0.23)		87						Missense_Mutation	SNP	ENST00000397498.4	37	c.259A>G	CCDS45813.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.904511	0.72868	.	.	ENSG00000214087	ENST00000397498	T	0.60920	0.15	4.91	3.8	0.43715	.	0.000000	0.85682	U	0.000000	T	0.69708	0.3141	M	0.64080	1.96	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.69480	-0.5134	10	0.87932	D	0	-21.8206	8.4977	0.33138	0.1732:0.0:0.0:0.8268	.	87	Q0P5N6	ARL16_HUMAN	V	87	ENSP00000380635:M87V	ENSP00000380635:M87V	M	-	1	0	ARL16	77260495	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.632000	0.61311	0.670000	0.31165	0.460000	0.39030	ATG		0.488	ARL16-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440514.1	XM_290777		22	207	0	0	0	1	0	22	207					C	79650090	T	C	79650090	3	2	21	1	0	0	0	0	1	0	0	0	932	1464	51	4	346	4	ARL16	17	79650090	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1665878	79650090	1545120	721	2146										
RAC3	5881	broad.mit.edu	37	chr17	79991680	79991680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cccgcccccagtgaagaagcCggggaagaagtgcaccgtct	13	14	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:79991680C>T	ENST00000306897.4	+	6	692	c.554C>T	c.(553-555)cCg>cTg	p.P185L	DCXR_ENST00000584318.1_5'Flank	NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	185					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)			GTGAAGAAGCCGGGGAAGAAG	0.652																																						ENST00000306897.4																			0				NS(1)|kidney(1)|skin(1)	3						c.(553-555)cCg>cTg		ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)							27	26	26					17																	79991680		2193	4295	6488	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.chr17:79991680C>T	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.554C>T	17.37:g.79991680C>T	ENSP00000304283:p.Pro185Leu		Somatic					p.P185L	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)		6	692	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		185					O14658|Q5U0M8	Missense_Mutation	SNP	ENST00000306897.4	37	c.554C>T	CCDS11798.1	.	.	.	.	.	.	.	.	.	.	c	10.58	1.389482	0.25118	.	.	ENSG00000169750	ENST00000306897	T	0.65178	-0.14	3.74	2.74	0.32292	.	0.385803	0.24671	N	0.036551	T	0.41926	0.1180	N	0.14661	0.345	0.46981	D	0.999278	B	0.06786	0.001	B	0.09377	0.004	T	0.14924	-1.0455	9	.	.	.	.	13.0013	0.58676	0.0:0.8361:0.1639:0.0	.	185	P60763	RAC3_HUMAN	L	185	ENSP00000304283:P185L	.	P	+	2	0	RAC3	77584969	0.998000	0.40836	0.233000	0.24025	0.338000	0.28826	3.233000	0.51311	0.741000	0.32674	0.586000	0.80456	CCG		0.652	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1			17	7	0	0	0	1	0	17	7					T	79991680	C	T	79991680	3	4	21	1	0	0	0	0	1	0	0	0	12991	652	23	1	576	1	RAC3	17	79991680	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	341590	79991680	1203530	722	2147										
FASN	2194	broad.mit.edu	37	chr17	80049428	80049428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gccaaaggagttgatgcccaCgttgccgccacggacgggca	14	13	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:80049428C>T	ENST00000306749.2	-	9	1380	c.1162G>A	c.(1162-1164)Gtg>Atg	p.V388M		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	388	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)			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)	TTGATGCCCACGTTGCCGCCA	0.682																																					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.(1162-1164)Gtg>Atg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						24	23	24					17																	80049428		2176	4279	6455	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.chr17:80049428C>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.1162G>A	17.37:g.80049428C>T	ENSP00000304592:p.Val388Met		Somatic					p.V388M	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)		9	1380	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		388			Beta-ketoacyl synthase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.1162G>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367791	0.82463	.	.	ENSG00000169710	ENST00000306749	T	0.29917	1.55	5.1	4.13	0.48395	Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	M	0.88640	2.97	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	T	0.66093	-0.6009	10	0.87932	D	0	-34.6406	11.3763	0.49730	0.0:0.8534:0.0:0.1466	.	388	P49327	FAS_HUMAN	M	388	ENSP00000304592:V388M	ENSP00000304592:V388M	V	-	1	0	FASN	77642717	0.981000	0.34729	0.980000	0.43619	0.928000	0.56348	2.585000	0.46111	2.381000	0.81170	0.484000	0.47621	GTG		0.682	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		10	9	0	0	0	1	0	10	9					T	80049428	C	T	80049428	3	4	21	1	0	0	0	0	1	0	0	0	5691	536	19	1	6513	1	FASN	17	80049428	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	57748	80049428	1145782	723	2148										
C17orf101	79701	broad.mit.edu	37	chr17	80356186	80356186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgaggtgtagtcgaaggagcCgtaggtcacctgagggcaga	17	8	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:80356186C>T	ENST00000313056.5	-	8	860	c.709G>A	c.(709-711)Ggc>Agc	p.G237S	RP13-20L14.4_ENST00000579188.1_RNA|OGFOD3_ENST00000329197.5_Missense_Mutation_p.G237S	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	237	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)										TCGAAGGAGCCGTAGGTCACC	0.572																																						ENST00000313056.5																			0											c.(709-711)Ggc>Agc		2-oxoglutarate and iron-dependent oxygenase domain containing 3							39	36	37					17																	80356186		2203	4300	6503	SO:0001583	missense	79701							g.chr17:80356186C>T	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 101"	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.709G>A	17.37:g.80356186C>T	ENSP00000320116:p.Gly237Ser		Somatic				OGFOD3_ENST00000329197.5_Missense_Mutation_p.G237S	p.G237S	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	WXS	Illumina GAIIx	Phase_I					8	860	-								C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	ENST00000313056.5	37	c.709G>A	CCDS11811.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716166	0.89205	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.58210	0.35;1.48	4.42	4.42	0.53409	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	L	0.42581	1.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.985	T	0.55952	-0.8059	10	0.15066	T	0.55	-33.6714	15.7584	0.78054	0.0:1.0:0.0:0.0	.	237;237	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	S	237	ENSP00000320116:G237S;ENSP00000330075:G237S	ENSP00000320116:G237S	G	-	1	0	C17orf101	77949475	1.000000	0.71417	0.972000	0.41901	0.971000	0.66376	5.165000	0.64959	2.247000	0.74100	0.491000	0.48974	GGC		0.572	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		15	31	0	0	0	1	0	15	31					T	80356186	C	T	80356186	3	4	21	1	0	0	0	0	1	0	0	0	1850	652	23	1	435	1	C17orf101	17	80356186	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	306758	80356186	839024	724	2149										
ZFP161	7541	broad.mit.edu	37	chr18	5290969	5290969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gggtaacctgcttcctttcaCtgtgcatattgttctcgtgc	9	11	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:5290969C>T	ENST00000357006.4	-	4	1576	c.1238G>A	c.(1237-1239)aGt>aAt	p.S413N	ZBTB14_ENST00000400143.3_Missense_Mutation_p.S413N	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	413					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)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										CTTCCTTTCACTGTGCATATT	0.532																																						ENST00000357006.4																			0											c.(1237-1239)aGt>aAt		zinc finger and BTB domain containing 14							203	152	169					18																	5290969		2203	4300	6503	SO:0001583	missense	7541							g.chr18:5290969C>T	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12860	protein-coding gene	gene with protein product		602126	"zinc finger protein 161 homolog (mouse)", "zinc finger protein 161", "ZFP161 zinc finger protein"	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.1238G>A	18.37:g.5290969C>T	ENSP00000349503:p.Ser413Asn		Somatic				ZBTB14_ENST00000400143.3_Missense_Mutation_p.S413N	p.S413N	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	WXS	Illumina GAIIx	Phase_I					4	1576	-								O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.1238G>A	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451887	0.26074	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.09255	3.0;3.0	5.92	5.05	0.67936	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.042245	0.85682	D	0.000000	T	0.09555	0.0235	N	0.24115	0.695	0.58432	D	0.999997	B	0.18461	0.028	B	0.12156	0.007	T	0.07986	-1.0744	10	0.62326	D	0.03	-16.3917	15.2015	0.73142	0.0:0.9325:0.0:0.0675	.	413	O43829	ZF161_HUMAN	N	413	ENSP00000349503:S413N;ENSP00000383009:S413N	ENSP00000349503:S413N	S	-	2	0	ZFP161	5280969	1.000000	0.71417	0.911000	0.35937	0.967000	0.64934	6.007000	0.70731	1.502000	0.48669	0.650000	0.86243	AGT		0.532	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		42	69	0	0	0	1	0	42	69					T	5290969	C	T	5290969	3	4	21	1	0	0	0	0	1	0	0	0	17655	565	20	3	115	3	ZFP161	18	5290969	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08		5290969	72786279	725	2150										
PTPRM	5797	broad.mit.edu	37	chr18	8114820	8114820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agactgtgtccaagtggccaCaaaaggtaggttgaaattgt	12	6	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:8114820C>T	ENST00000332175.8	+	13	3199	c.2162C>T	c.(2161-2163)aCa>aTa	p.T721I	PTPRM_ENST00000400053.4_Missense_Mutation_p.T659I|PTPRM_ENST00000444013.1_Missense_Mutation_p.T508I|PTPRM_ENST00000400060.4_Missense_Mutation_p.T721I|PTPRM_ENST00000580170.1_Missense_Mutation_p.T721I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	721					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)				CAAGTGGCCACAAAAGGTAGG	0.299																																						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.(2161-2163)aCa>aTa		protein tyrosine phosphatase, receptor type, M							64	68	67					18																	8114820		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.chr18:8114820C>T	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.2162C>T	18.37:g.8114820C>T	ENSP00000331418:p.Thr721Ile		Somatic				PTPRM_ENST00000400053.4_Missense_Mutation_p.T659I|PTPRM_ENST00000444013.1_Missense_Mutation_p.T508I|PTPRM_ENST00000400060.4_Missense_Mutation_p.T721I|PTPRM_ENST00000580170.1_Missense_Mutation_p.T721I	p.T721I	NM_002845.3	NP_002836.3	WXS	Illumina GAIIx	Phase_I	P28827	PTPRM_HUMAN			13	3199	+		Colorectal(10;0.234)	721					A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.2162C>T	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954037	0.92660	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.49720	1.12;1.1;0.93;0.77	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.70072	0.3182	M	0.70275	2.135	0.80722	D	1	P;D;D	0.71674	0.935;0.998;0.998	P;D;D	0.76071	0.598;0.987;0.987	T	0.66228	-0.5976	10	0.44086	T	0.13	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	508;721;721	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	I	721;721;659;508	ENSP00000331418:T721I;ENSP00000382933:T721I;ENSP00000382927:T659I;ENSP00000387608:T508I	ENSP00000331418:T721I	T	+	2	0	PTPRM	8104820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.884000	0.98904	0.655000	0.94253	ACA		0.299	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			19	15	0	0	0	1	0	19	15					T	8114820	C	T	8114820	3	4	21	1	0	0	0	0	1	0	0	0	12821	478	17	3	2212	3	PTPRM	18	8114820	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2823851	8114820	69962428	726	2151										
MC2R	4158	broad.mit.edu	37	chr18	13885199	13885199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggagaggacaaacagggagtCgatgatgtcatcggctgtgg	17	6	1	2	rs104894661		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:13885199C>T	ENST00000327606.3	-	2	499	c.319G>A	c.(319-321)Gac>Aac	p.D107N		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	107			D -> N (in GCCD1). {ECO:0000269|PubMed:8636348}.		G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AACAGGGAGTCGATGATGTCA	0.498																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30	GRCh37	CM960958	MC2R	M	rs104894661	c.(319-321)Gac>Aac		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)						121	86	98					18																	13885199		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13885199C>T		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.319G>A	18.37:g.13885199C>T	ENSP00000333821:p.Asp107Asn		Somatic					p.D107N	NM_000529.2	NP_000520.1	WXS	Illumina GAIIx	Phase_I	Q01718	ACTHR_HUMAN			2	499	-			107		D -> N (in GCCD1).			A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.319G>A	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964431	0.74131	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T;T	0.36520	2.15;1.25	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67335	0.2882	M	0.88640	2.97	0.51767	A	0.999935	D	0.89917	1.0	D	0.97110	1.0	T	0.75563	-0.3274	9	0.72032	D	0.01	.	18.0219	0.89257	0.0:1.0:0.0:0.0	.	107	Q01718	ACTHR_HUMAN	N	107	ENSP00000333821:D107N;ENSP00000382718:D107N	ENSP00000333821:D107N	D	-	1	0	MC2R	13875199	1.000000	0.71417	0.947000	0.38551	0.578000	0.36192	5.411000	0.66386	2.313000	0.78055	0.650000	0.86243	GAC		0.498	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			21	38	0	0	0	1	0	21	38					T	13885199	C	T	13885199	3	4	21	1	0	0	0	0	1	0	0	0	9373	884	31	1	578	1	MC2R	18	13885199	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	5770379	13885199	64192049	727	2152										
LAMA3	3909	broad.mit.edu	37	chr18	21484616	21484616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gccatcaaagcggccgaggaCgcagccaacagggctgccag	14	14	1	0	rs561294952		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:21484616C>T	ENST00000313654.9	+	51	6814	c.6573C>T	c.(6571-6573)gaC>gaT	p.D2191D	LAMA3_ENST00000399516.3_Silent_p.D2135D|LAMA3_ENST00000587184.1_Silent_p.D526D|LAMA3_ENST00000269217.6_Silent_p.D582D|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2191	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CGGCCGAGGACGCAGCCAACA	0.582													C|||	1	0.000199681	0	0	5008	,	,		14623	0		0.001	False		,,,				2504	0					ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(6571-6573)gaC>gaT		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						42	38	39					18																	21484616		2203	4299	6502	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.chr18:21484616C>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.6573C>T	18.37:g.21484616C>T			Somatic				LAMA3_ENST00000269217.6_Silent_p.D582D|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Silent_p.D2135D|LAMA3_ENST00000587184.1_Silent_p.D526D	p.D2191D	NM_198129.1	NP_937762.1	WXS	Illumina GAIIx	Phase_I	Q16787	LAMA3_HUMAN			51	6814	+	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)		2191			Domain II and I.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.6573C>T	CCDS42419.1																																																																																				0.582	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		14	17	0	0	0	1	0	14	17					T	21484616	C	T	21484616	2	4	21	1	0	0	0	0	0	0	0	1	8616	535	19	1		1	LAMA3	18	21484616	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	7599417	21484616	56592632	728	2153										
MAPRE2	10982	broad.mit.edu	37	chr18	32720278	32720278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggagggccacacagaagagcCggaagcagaggagcaagccc	16	11	0	3	rs553548164		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:32720278C>T	ENST00000300249.5	+	7	1109	c.929C>T	c.(928-930)cCg>cTg	p.P310L	MAPRE2_ENST00000413393.1_Missense_Mutation_p.P267L|MAPRE2_ENST00000436190.2_Missense_Mutation_p.P298L|MAPRE2_ENST00000589699.1_Missense_Mutation_p.P267L|MAPRE2_ENST00000538170.2_Missense_Mutation_p.P257L	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	310	DCTN1-binding.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						ACAGAAGAGCCGGAAGCAGAG	0.597													C|||	1	0.000199681	8e-04	0	5008	,	,		17697	0		0	False		,,,				2504	0					ENST00000436190.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(892-894)cCg>cTg		microtubule-associated protein, RP/EB family, member 2							78	86	83					18																	32720278		2201	4300	6501	SO:0001583	missense	10982				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding	g.chr18:32720278C>T	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"APC-binding protein EB1"	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.929C>T	18.37:g.32720278C>T	ENSP00000300249:p.Pro310Leu		Somatic				MAPRE2_ENST00000538170.2_Missense_Mutation_p.P257L|MAPRE2_ENST00000589699.1_Missense_Mutation_p.P267L|MAPRE2_ENST00000300249.5_Missense_Mutation_p.P310L|MAPRE2_ENST00000413393.1_Missense_Mutation_p.P267L	p.P298L	NM_001143827.2	NP_001137299.1	WXS	Illumina GAIIx	Phase_I	Q15555	MARE2_HUMAN			8	1167	+			310			APC-binding.|DCTN1-binding.|EB1 C-terminal.		B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	ENST00000300249.5	37	c.893C>T	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513876	0.27123	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.43688	0.96;0.95;0.96;0.94	5.42	2.24	0.28232	.	0.426342	0.26143	N	0.026096	T	0.27900	0.0687	N	0.22421	0.69	0.40164	D	0.977091	B;B;B	0.19583	0.012;0.007;0.037	B;B;B	0.12156	0.001;0.007;0.005	T	0.10613	-1.0622	10	0.28530	T	0.3	-1.0451	13.652	0.62316	0.3951:0.6049:0.0:0.0	.	298;257;310	E9PHR3;F5H1V8;Q15555	.;.;MARE2_HUMAN	L	267;298;310;257	ENSP00000396074:P267L;ENSP00000407723:P298L;ENSP00000300249:P310L;ENSP00000446343:P257L	ENSP00000300249:P310L	P	+	2	0	MAPRE2	30974276	0.950000	0.32346	0.987000	0.45799	0.996000	0.88848	2.022000	0.41030	1.206000	0.43276	0.563000	0.77884	CCG		0.597	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268		9	16	0	0	0	1	0	9	16					T	32720278	C	T	32720278	3	4	21	1	0	0	0	0	1	0	0	0	9304	652	23	1	1049	1	MAPRE2	18	32720278	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	11235662	32720278	45356970	729	2154										
MOCOS	55034	broad.mit.edu	37	chr18	33800116	33800116	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctgagtcagaagcaggaaccCcggctctgcctgatccagcc	11	15	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:33800116C>T	ENST00000261326.5	+	9	1917	c.1896C>T	c.(1894-1896)ccC>ccT	p.P632P		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGCAGGAACCCCGGCTCTGCC	0.532																																						ENST00000261326.5																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1894-1896)ccC>ccT		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						128	113	118					18																	33800116		2203	4300	6503	SO:0001819	synonymous_variant	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.chr18:33800116C>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.1896C>T	18.37:g.33800116C>T			Somatic					p.P632P	NM_017947.2	NP_060417.2	WXS	Illumina GAIIx	Phase_I	Q96EN8	MOCOS_HUMAN			9	1917	+			632						Silent	SNP	ENST00000261326.5	37	c.1896C>T	CCDS11919.1																																																																																				0.532	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			25	48	0	0	0	1	0	25	48					T	33800116	C	T	33800116	2	4	21	1	0	0	0	0	0	0	0	1	9698	610	22	3		3	MOCOS	18	33800116	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1079838	33800116	44277132	730	2155										
PIK3C3	5289	broad.mit.edu	37	chr18	39575909	39575909	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccggagtttaagaagtggacCttctgaccacgatctgaaac	10	10	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:39575909C>A	ENST00000262039.4	+	8	928	c.842C>A	c.(841-843)cCt>cAt	p.P281H	PIK3C3_ENST00000398870.3_Missense_Mutation_p.P218H	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	281					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						AGAAGTGGACCTTCTGACCAC	0.348										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.(841-843)cCt>cAt		phosphatidylinositol 3-kinase, catalytic subunit type 3							56	57	57					18																	39575909		2203	4299	6502	SO:0001583	missense	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.chr18:39575909C>A	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.842C>A	18.37:g.39575909C>A	ENSP00000262039:p.Pro281His	TSP Lung(28;0.18)	Somatic				PIK3C3_ENST00000398870.3_Missense_Mutation_p.P218H	p.P281H	NM_002647.2	NP_002638.2	WXS	Illumina GAIIx	Phase_I	Q8NEB9	PK3C3_HUMAN			8	928	+			281					Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.842C>A	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758676	0.69763	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.63580	-0.05;-0.05	5.45	5.45	0.79879	Phosphoinositide 3-kinase, accessory (PIK) domain (1);Armadillo-type fold (1);	0.049680	0.85682	D	0.000000	T	0.64249	0.2581	L	0.37850	1.14	0.80722	D	1	P;D	0.54397	0.939;0.966	P;P	0.51193	0.662;0.662	T	0.60732	-0.7205	9	.	.	.	.	19.6374	0.95740	0.0:1.0:0.0:0.0	.	218;281	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	H	281;218	ENSP00000262039:P281H;ENSP00000381845:P218H	.	P	+	2	0	PIK3C3	37829907	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.752000	0.85141	2.711000	0.92665	0.563000	0.77884	CCT		0.348	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		37	49	1	0	4.67007e-22	1	5.17127e-22	37	49					A	39575909	C	A	39575909	3	1	21	1	0	0	0	0	1	0	0	0	11921	681	24	5	872	5	PIK3C3	18	39575909	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	5775793	39575909	38501339	731	2156										
KIAA1632	57724	broad.mit.edu	37	chr18	43459143	43459143	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cttggataaccgaagcttatAaaaaaagtctgaaagccact							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:43459143delA	ENST00000282041.5	-	33	5738	c.5704delT	c.(5704-5706)tatfs	p.Y1902fs	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1902					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						CGAAGCTTATAAAAAAAGTCT	0.343																																						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.(5704-5706)atfs		ectopic P-granules autophagy protein 5 homolog (C. elegans)							67	65	66					18																	43459143		1802	4070	5872	SO:0001589	frameshift_variant	57724				autophagy			g.chr18:43459143delA	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.5704delT	18.37:g.43459143delA	ENSP00000282041:p.Tyr1902fs		Somatic				EPG5_ENST00000585906.1_5'UTR	p.Y1902fs	NM_020964.2	NP_066015.2	WXS	Illumina GAIIx	Phase_I	Q9HCE0	EPG5_HUMAN			33	5738	-			1902					A2BDF3|Q9H8C8	Frame_Shift_Del	DEL	ENST00000282041.5	37	c.5704delT	CCDS11926.2																																																																																				0.343	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		54	61						54	61	---	---	---	---	-	43459143	A	-	43459143	7	5	21	1	0	1	0	1	0	0	0	0	8258	362	13	0	2083	0	KIAA1632	18	43459143	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	3883234	43459143	34618105	732	2157										
RNF165	494470	broad.mit.edu	37	chr18	44036491	44036491	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctctcttccagacgcctaccCtgtatgcatctctttcacca	4	17	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:44036491C>A	ENST00000269439.7	+	8	984	c.933C>A	c.(931-933)ccC>ccA	p.P311P	RNF165_ENST00000543885.1_Silent_p.P119P	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	311							zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GACGCCTACCCTGTATGCATC	0.592																																						ENST00000269439.7																			0				NS(1)|large_intestine(4)|lung(6)	11						c.(931-933)ccC>ccA		ring finger protein 165							116	111	113					18																	44036491		2203	4300	6503	SO:0001819	synonymous_variant	494470						zinc ion binding	g.chr18:44036491C>A	BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"RING-type (C3HC4) zinc fingers"	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.933C>A	18.37:g.44036491C>A			Somatic				RNF165_ENST00000543885.1_Silent_p.P119P	p.P311P	NM_152470.2	NP_689683.2	WXS	Illumina GAIIx	Phase_I	Q6ZSG1	RN165_HUMAN		READ - Rectum adenocarcinoma(1;0.0873)	8	984	+			311					B3KVD1	Silent	SNP	ENST00000269439.7	37	c.933C>A	CCDS32823.1																																																																																				0.592	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470		52	70	1	0	1.17673e-23	1	1.30632e-23	52	70					A	44036491	C	A	44036491	2	1	21	1	0	0	0	0	0	0	0	1	13471	668	24	5		5	RNF165	18	44036491	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	577348	44036491	34040757	733	2158										
CXXC1	30827	broad.mit.edu	37	chr18	47811722	47811722	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gggaagtacttgtacgattcCtgtgccggcaggaggaaggc	16	8	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:47811722C>A	ENST00000285106.6	-	6	1354		c.e6-1		CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Splice_Site|CXXC1_ENST00000412036.2_Splice_Site	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TGTACGATTCCTGTGCCGGCA	0.672																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.e6-1		CXXC finger protein 1							37	39	38					18																	47811722		2203	4300	6503	SO:0001630	splice_region_variant	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.chr18:47811722C>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.640-1G>T	18.37:g.47811722C>A			Somatic				CXXC1_ENST00000412036.2_Splice_Site|CXXC1_ENST00000589940.1_Splice_Site		NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	WXS	Illumina GAIIx	Phase_I	Q9P0U4	CXXC1_HUMAN			6	1354	-								B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Splice_Site	SNP	ENST00000285106.6	37		CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906522	0.52333	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	.	.	.	3.85	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9623	0.53015	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CXXC1	46065720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.922000	0.56462	2.100000	0.63781	0.542000	0.68232	.		0.672	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593	Intron	25	42	1	0	2.44723e-14	1	2.62695e-14	25	42					A	47811722	C	A	47811722	5	1	21	1	0	0	0	0	0	0	1	0	4099	695	24	5	1383	5	CXXC1	18	47811722	Splice_Site	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3775231	47811722	30265526	734	2159										
TCF4	6925	broad.mit.edu	37	chr18	52896149	52896149	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcaggagcttggtctggggcTtgtcactcttgaggtggagc	16	8	4	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:52896149T>G	ENST00000356073.4	-	18	2407	c.1796A>C	c.(1795-1797)aAg>aCg	p.K599T	TCF4_ENST00000398339.1_Missense_Mutation_p.K705T|TCF4_ENST00000564999.1_Missense_Mutation_p.K599T|TCF4_ENST00000564228.1_Missense_Mutation_p.K528T|TCF4_ENST00000561992.1_Missense_Mutation_p.K469T|TCF4_ENST00000354452.3_Missense_Mutation_p.K603T|TCF4_ENST00000537856.3_Missense_Mutation_p.K469T|TCF4_ENST00000568740.1_Missense_Mutation_p.K574T|TCF4_ENST00000565018.2_Missense_Mutation_p.K603T|TCF4_ENST00000561831.3_Missense_Mutation_p.K439T|TCF4_ENST00000568673.1_Missense_Mutation_p.K579T|TCF4_ENST00000537578.1_Missense_Mutation_p.K579T|TCF4_ENST00000570177.2_Missense_Mutation_p.K469T|TCF4_ENST00000566286.1_Missense_Mutation_p.K596T|TCF4_ENST00000566279.1_Missense_Mutation_p.K543T|TCF4_ENST00000570287.2_Missense_Mutation_p.K439T|TCF4_ENST00000457482.3_Missense_Mutation_p.K443T|TCF4_ENST00000540999.1_Missense_Mutation_p.K575T|TCF4_ENST00000564403.2_Missense_Mutation_p.K609T|TCF4_ENST00000567880.1_Missense_Mutation_p.K539T|TCF4_ENST00000544241.2_Missense_Mutation_p.K532T|TCF4_ENST00000543082.1_Missense_Mutation_p.K557T	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	599	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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)		GGTCTGGGGCTTGTCACTCTT	0.617																																						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.(1807-1809)aAg>aCg		transcription factor 4							104	90	95					18																	52896149		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.chr18:52896149T>G	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.1796A>C	18.37:g.52896149T>G	ENSP00000348374:p.Lys599Thr		Somatic				TCF4_ENST00000561992.1_Missense_Mutation_p.K469T|TCF4_ENST00000561831.3_Missense_Mutation_p.K439T|TCF4_ENST00000398339.1_Missense_Mutation_p.K705T|TCF4_ENST00000537578.1_Missense_Mutation_p.K579T|TCF4_ENST00000565018.2_Missense_Mutation_p.K603T|TCF4_ENST00000540999.1_Missense_Mutation_p.K575T|TCF4_ENST00000566279.1_Missense_Mutation_p.K543T|TCF4_ENST00000537856.3_Missense_Mutation_p.K469T|TCF4_ENST00000457482.3_Missense_Mutation_p.K443T|TCF4_ENST00000567880.1_Missense_Mutation_p.K539T|TCF4_ENST00000564228.1_Missense_Mutation_p.K528T|TCF4_ENST00000568673.1_Missense_Mutation_p.K579T|TCF4_ENST00000568740.1_Missense_Mutation_p.K574T|TCF4_ENST00000356073.4_Missense_Mutation_p.K599T|TCF4_ENST00000570287.2_Missense_Mutation_p.K439T|TCF4_ENST00000564403.2_Missense_Mutation_p.K609T|TCF4_ENST00000570177.2_Missense_Mutation_p.K469T|TCF4_ENST00000544241.2_Missense_Mutation_p.K532T|TCF4_ENST00000564999.1_Missense_Mutation_p.K599T|TCF4_ENST00000566286.1_Missense_Mutation_p.K596T|TCF4_ENST00000543082.1_Missense_Mutation_p.K557T	p.K603T	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)	18	2419	-			599			Helix-loop-helix motif.		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.1808A>C	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.543536	0.86022	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	D;D;D;D;D;D;D;D;D	0.99232	-5.6;-5.6;-5.6;-5.6;-5.6;-5.6;-5.6;-5.6;-5.6	5.79	4.62	0.57501	Helix-loop-helix DNA-binding (5);	0.045522	0.85682	D	0.000000	D	0.99306	0.9757	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.995;0.97;0.987;0.991;0.998;0.998;0.989;0.998	D;D;D;D;D;D;D;D;D	0.83275	0.996;0.969;0.913;0.932;0.982;0.986;0.991;0.969;0.969	D	0.99338	1.0911	10	0.87932	D	0	-9.9618	10.7977	0.46470	0.0:0.0754:0.0:0.9246	.	579;603;439;705;599;557;532;443;596	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	T	603;443;599;557;575;579;532;469;705	ENSP00000346440:K603T;ENSP00000409447:K443T;ENSP00000348374:K599T;ENSP00000439656:K557T;ENSP00000445202:K575T;ENSP00000440731:K579T;ENSP00000441562:K532T;ENSP00000439827:K469T;ENSP00000381382:K705T	ENSP00000346440:K603T	K	-	2	0	TCF4	51047147	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	1.019000	0.39547	0.460000	0.39030	AAG		0.617	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		35	63	0	0	0	1	0	35	63					G	52896149	T	G	52896149	3	3	21	1	0	0	0	0	1	0	0	0	15710	1609	56	4	215	4	TCF4	18	52896149	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	5084427	52896149	25181099	735	2160										
CDH20	28316	broad.mit.edu	37	chr18	59221723	59221723	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggccaagctctacgaggccgAcatggacctgtgggcaccgc	14	14	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:59221723A>G	ENST00000262717.4	+	12	2599	c.2201A>G	c.(2200-2202)gAc>gGc	p.D734G	CDH20_ENST00000538374.1_Missense_Mutation_p.D734G|CDH20_ENST00000536675.2_Missense_Mutation_p.D734G			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	734					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)				TACGAGGCCGACATGGACCTG	0.647																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(2200-2202)gAc>gGc		cadherin 20, type 2							39	31	34					18																	59221723		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59221723A>G	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.2201A>G	18.37:g.59221723A>G	ENSP00000262717:p.Asp734Gly		Somatic				CDH20_ENST00000538374.1_Missense_Mutation_p.D734G|CDH20_ENST00000536675.2_Missense_Mutation_p.D734G	p.D734G			WXS	Illumina GAIIx	Phase_I	Q9HBT6	CAD20_HUMAN			12	2599	+		Colorectal(73;0.186)	734					Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.2201A>G	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586167	0.86851	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.81330	-1.48;-1.48;-1.48	5.78	5.78	0.91487	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.91492	0.7314	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93088	0.6497	10	0.87932	D	0	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	734	Q9HBT6	CAD20_HUMAN	G	734	ENSP00000444767:D734G;ENSP00000442226:D734G;ENSP00000262717:D734G	ENSP00000262717:D734G	D	+	2	0	CDH20	57372703	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.333000	0.79357	0.533000	0.62120	GAC		0.647	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		10	12	0	0	0	1	0	10	12					G	59221723	A	G	59221723	3	3	21	1	0	0	0	0	1	0	0	0	3108	275	10	4	2243	4	CDH20	18	59221723	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	6325574	59221723	18855525	736	2161										
CDH7	1005	broad.mit.edu	37	chr18	63525089	63525089	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acacagacttggagagatacTtcaatattgatgccaacagt	8	8	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:63525089T>G	ENST00000397968.2	+	8	1699	c.1273T>G	c.(1273-1275)Ttc>Gtc	p.F425V	CDH7_ENST00000536984.2_Missense_Mutation_p.F425V|CDH7_ENST00000323011.3_Missense_Mutation_p.F425V	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	425	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)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGAGAGATACTTCAATATTGA	0.388																																						ENST00000536984.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(1273-1275)Ttc>Gtc		cadherin 7, type 2							140	128	132					18																	63525089		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63525089T>G	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1273T>G	18.37:g.63525089T>G	ENSP00000381058:p.Phe425Val		Somatic				CDH7_ENST00000397968.2_Missense_Mutation_p.F425V|CDH7_ENST00000323011.3_Missense_Mutation_p.F425V	p.F425V			WXS	Illumina GAIIx	Phase_I	Q9ULB5	CADH7_HUMAN			8	1967	+		Esophageal squamous(42;0.129)	425			Cadherin 4.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1273T>G	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.383821	0.82792	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	D;D;D	0.83075	-1.68;-1.68;-1.68	4.42	4.42	0.53409	Cadherin (4);Cadherin-like (1);	0.130154	0.53938	D	0.000056	D	0.90748	0.7096	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.87578	0.969;0.998	D	0.92150	0.5727	10	0.87932	D	0	.	14.1166	0.65159	0.0:0.0:0.0:1.0	.	425;425	F5H5X9;Q9ULB5	.;CADH7_HUMAN	V	425	ENSP00000319166:F425V;ENSP00000443030:F425V;ENSP00000381058:F425V	ENSP00000319166:F425V	F	+	1	0	CDH7	61676069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.798000	0.85924	1.990000	0.58119	0.454000	0.30748	TTC		0.388	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		5	109	0	0	0	1	0	5	109					G	63525089	T	G	63525089	3	3	21	1	0	0	0	0	1	0	0	0	3117	1609	56	4	1299	4	CDH7	18	63525089	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	4303366	63525089	14552159	737	2162										
CDH7	1005	broad.mit.edu	37	chr18	63547798	63547798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctgcactgagaaacctcaacGtcatccgagacaccaagacc	7	15	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:63547798G>A	ENST00000397968.2	+	12	2452	c.2026G>A	c.(2026-2028)Gtc>Atc	p.V676I	CDH7_ENST00000323011.3_Missense_Mutation_p.V676I	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, 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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AAACCTCAACGTCATCCGAGA	0.483																																						ENST00000397968.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(2026-2028)Gtc>Atc		cadherin 7, type 2							74	75	75					18																	63547798		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547798G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.2026G>A	18.37:g.63547798G>A	ENSP00000381058:p.Val676Ile		Somatic				CDH7_ENST00000323011.3_Missense_Mutation_p.V676I	p.V676I	NM_004361.2	NP_004352.2	WXS	Illumina GAIIx	Phase_I	Q9ULB5	CADH7_HUMAN			12	2452	+		Esophageal squamous(42;0.129)	676					Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.2026G>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577278	0.28092	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	T;T	0.76578	-1.03;-1.03	5.61	4.73	0.59995	Cadherin, cytoplasmic domain (1);	0.515737	0.20048	N	0.100365	T	0.67002	0.2847	L	0.48642	1.525	0.29059	N	0.884049	B	0.06786	0.001	B	0.06405	0.002	T	0.56733	-0.7930	10	0.37606	T	0.19	.	5.3339	0.15947	0.273:0.0:0.727:0.0	.	676	Q9ULB5	CADH7_HUMAN	I	676	ENSP00000319166:V676I;ENSP00000381058:V676I	ENSP00000319166:V676I	V	+	1	0	CDH7	61698778	1.000000	0.71417	0.910000	0.35882	0.495000	0.33615	5.519000	0.67074	2.631000	0.89168	0.655000	0.94253	GTC		0.483	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		36	46	0	0	0	1	0	36	46					A	63547798	G	A	63547798	3	1	21	1	0	0	0	0	1	0	0	0	3117	1145	40	1	2068	1	CDH7	18	63547798	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	22709	63547798	14529450	738	2163										
PQLC1	80148	broad.mit.edu	37	chr18	77703350	77703350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgtaaaggagcggcgcctggCgttgagctcgttggccacac	15	11	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:77703350C>T	ENST00000397778.2	-	3	498	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	PQLC1_ENST00000409073.1_Missense_Mutation_p.A23T|PQLC1_ENST00000357575.4_Missense_Mutation_p.A106T|PQLC1_ENST00000590381.1_Missense_Mutation_p.A106T	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	106						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		CGGCGCCTGGCGTTGAGCTCG	0.582																																						ENST00000397778.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9						c.(316-318)Gcc>Acc		PQ loop repeat containing 1							121	120	120					18																	77703350		2203	4300	6503	SO:0001583	missense	80148					integral to membrane		g.chr18:77703350C>T	AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.316G>A	18.37:g.77703350C>T	ENSP00000380880:p.Ala106Thr		Somatic				PQLC1_ENST00000590381.1_Missense_Mutation_p.A106T|PQLC1_ENST00000409073.1_Missense_Mutation_p.A23T|PQLC1_ENST00000357575.4_Missense_Mutation_p.A106T	p.A106T	NM_025078.4	NP_079354.2	WXS	Illumina GAIIx	Phase_I	Q8N2U9	PQLC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)	3	498	-		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)	106					B7Z7D9|G5E989|Q9H6D0	Missense_Mutation	SNP	ENST00000397778.2	37	c.316G>A	CCDS12020.1	.	.	.	.	.	.	.	.	.	.	C	0.411	-0.913218	0.02415	.	.	ENSG00000122490	ENST00000397778;ENST00000409073;ENST00000357575;ENST00000351365	.	.	.	5.47	-10.1	0.00402	.	0.927161	0.09219	N	0.832209	T	0.08358	0.0208	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.16802	0.019;0.018;0.002	B;B;B	0.10450	0.002;0.005;0.002	T	0.19844	-1.0293	9	0.08179	T	0.78	-6.2462	5.3543	0.16053	0.0716:0.2406:0.4052:0.2826	.	106;106;106	B7Z7D9;Q8N2U9;G5E989	.;PQLC1_HUMAN;.	T	106;23;106;106	.	ENSP00000315627:A106T	A	-	1	0	PQLC1	75804338	0.852000	0.29690	0.000000	0.03702	0.010000	0.07245	-0.113000	0.10774	-1.819000	0.01216	-0.768000	0.03414	GCC		0.582	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256434.1	NM_025078		116	142	0	0	0	1	0	116	142					T	77703350	C	T	77703350	3	4	21	1	0	0	0	0	1	0	0	0	12430	768	27	1	515	1	PQLC1	18	77703350	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	14155552	77703350	373898	739	2164										
ABCA7	10347	broad.mit.edu	37	chr19	1046869	1046869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctggatctactccgtgacacTgacagtgaaggccgtggtgc	13	11	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:1046869T>C	ENST00000263094.6	+	14	1922	c.1691T>C	c.(1690-1692)cTg>cCg	p.L564P	ABCA7_ENST00000435683.2_Missense_Mutation_p.L426P|ABCA7_ENST00000433129.1_Missense_Mutation_p.L564P|ABCA7_ENST00000533574.1_Intron	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	564					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)		TCCGTGACACTGACAGTGAAG	0.687																																						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.(1690-1692)cTg>cCg		ATP-binding cassette, sub-family A (ABC1), member 7							23	22	22					19																	1046869		2167	4246	6413	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.chr19:1046869T>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.1691T>C	19.37:g.1046869T>C	ENSP00000263094:p.Leu564Pro		Somatic				ABCA7_ENST00000435683.2_Missense_Mutation_p.L426P|ABCA7_ENST00000433129.1_Missense_Mutation_p.L564P|ABCA7_ENST00000533574.1_Intron	p.L564P	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)	14	1922	+		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)	564					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1691T>C	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	t	21.6	4.174843	0.78564	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.90004	-2.6;-2.6	4.92	3.89	0.44902	.	.	.	.	.	D	0.92718	0.7685	M	0.75264	2.295	0.53688	D	0.999979	D;D	0.69078	0.997;0.997	D;D	0.71656	0.956;0.974	D	0.91847	0.5488	9	0.87932	D	0	.	8.8341	0.35102	0.0:0.0921:0.0:0.9079	.	426;564	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	P	564	ENSP00000263094:L564P;ENSP00000414062:L564P	ENSP00000263094:L564P	L	+	2	0	ABCA7	997869	1.000000	0.71417	0.994000	0.49952	0.918000	0.54935	4.067000	0.57527	0.720000	0.32209	0.454000	0.30748	CTG		0.687	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		4	2	0	0	0	1	0	4	2					C	1046869	T	C	1046869	3	2	21	1	0	0	0	0	1	0	0	0	37	1580	55	4	1741	4	ABCA7	19	1046869	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08		1046869	58082114	740	2165										
KLF16	83855	broad.mit.edu	37	chr19	1854672	1854672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggagaagcgcttctcgcccGtgtgcgtccggtggtggcgg	18	11	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:1854672G>A	ENST00000250916.4	-	2	615	c.545C>T	c.(544-546)aCg>aTg	p.T182M	CTB-31O20.6_ENST00000592884.1_RNA|KLF16_ENST00000592313.1_5'UTR	NM_031918.3	NP_114124.1	Q9BXK1	KLF16_HUMAN	Kruppel-like factor 16	182					dopamine receptor signaling pathway (GO:0007212)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)	1		Ovarian(11;1.78e-06)|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)		CTTCTCGCCCGTGTGCGTCCG	0.687																																						ENST00000250916.4																			0				lung(1)	1						c.(544-546)aCg>aTg		Kruppel-like factor 16							39	44	43					19																	1854672		2203	4299	6502	SO:0001583	missense	83855					nucleus	DNA binding|zinc ion binding	g.chr19:1854672G>A	AF327440	CCDS12075.1	19p13.3	2013-10-15			ENSG00000129911	ENSG00000129911		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16857	protein-coding gene	gene with protein product		606139				11438660	Standard	NM_031918		Approved	NSLP2, BTEB4, DRRF	uc002luc.3	Q9BXK1	OTTHUMG00000179994	ENST00000250916.4:c.545C>T	19.37:g.1854672G>A	ENSP00000250916:p.Thr182Met		Somatic				KLF16_ENST00000592313.1_5'UTR	p.T182M	NM_031918.3	NP_114124.1	WXS	Illumina GAIIx	Phase_I	Q9BXK1	KLF16_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	615	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	182						Missense_Mutation	SNP	ENST00000250916.4	37	c.545C>T	CCDS12075.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409466	0.83340	.	.	ENSG00000129911	ENST00000250916;ENST00000541015	T;T	0.26373	1.74;1.74	3.31	3.31	0.37934	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46983	0.1421	M	0.66560	2.04	0.45035	D	0.998058	D	0.89917	1.0	D	0.87578	0.998	T	0.50890	-0.8774	9	0.87932	D	0	.	12.1875	0.54247	0.0:0.0:1.0:0.0	.	182	Q9BXK1	KLF16_HUMAN	M	182	ENSP00000250916:T182M;ENSP00000439973:T182M	ENSP00000250916:T182M	T	-	2	0	KLF16	1805672	1.000000	0.71417	0.877000	0.34402	0.748000	0.42578	7.598000	0.82745	1.698000	0.51180	0.472000	0.43445	ACG		0.687	KLF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449214.1			34	44	0	0	0	1	0	34	44					A	1854672	G	A	1854672	3	1	21	1	0	0	0	0	1	0	0	0	8353	1145	40	1	217	1	KLF16	19	1854672	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	807803	1854672	57274311	741	2166										
KDM4B	23030	broad.mit.edu	37	chr19	5131092	5131092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctcctcttcccacagaggacGggaggggcaagctgcggcca	14	14	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:5131092G>A	ENST00000159111.4	+	12	1539	c.1321G>A	c.(1321-1323)Ggg>Agg	p.G441R	KDM4B_ENST00000536461.1_Missense_Mutation_p.G475R	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	441					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						CACAGAGGACGGGAGGGGCAA	0.652																																						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.(1321-1323)Ggg>Agg		lysine (K)-specific demethylase 4B							16	20	19					19																	5131092		2172	4284	6456	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.chr19:5131092G>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.1321G>A	19.37:g.5131092G>A	ENSP00000159111:p.Gly441Arg		Somatic				KDM4B_ENST00000536461.1_Missense_Mutation_p.G475R	p.G441R	NM_015015.2	NP_055830.1	WXS	Illumina GAIIx	Phase_I	O94953	KDM4B_HUMAN			12	1539	+			441					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.1321G>A	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290079	0.23478	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.18657	2.2;2.24	4.09	1.95	0.26073	.	1.406310	0.04489	N	0.379144	T	0.18800	0.0451	L	0.54323	1.7	0.09310	N	1	B;B	0.21381	0.055;0.033	B;B	0.16722	0.016;0.007	T	0.29119	-1.0022	10	0.16420	T	0.52	-24.7636	2.9343	0.05809	0.3287:0.0:0.4748:0.1965	.	475;441	F5GX28;O94953	.;KDM4B_HUMAN	R	441;475	ENSP00000159111:G441R;ENSP00000440495:G475R	ENSP00000159111:G441R	G	+	1	0	KDM4B	5082092	0.080000	0.21391	0.287000	0.24848	0.638000	0.38207	0.094000	0.15107	0.389000	0.25086	0.561000	0.74099	GGG		0.652	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		6	8	0	0	0	1	0	6	8					A	5131092	G	A	5131092	3	1	21	1	0	0	0	0	1	0	0	0	8138	1116	39	1	1359	1	KDM4B	19	5131092	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3276420	5131092	53997891	742	2167										
SAFB	6294	broad.mit.edu	37	chr19	5661692	5661692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggagcgcgaacgcatgcacGtggagcacgagcgcaggcgc	17	12	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:5661692G>A	ENST00000292123.5	+	15	2133	c.2026G>A	c.(2026-2028)Gtg>Atg	p.V676M	SAFB_ENST00000433404.1_Missense_Mutation_p.V506M|SAFB_ENST00000592224.1_Missense_Mutation_p.V675M|SAFB_ENST00000454510.1_Missense_Mutation_p.V607M|SAFB_ENST00000588852.1_Missense_Mutation_p.V676M|SAFB_ENST00000538656.1_Missense_Mutation_p.V518M	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	676	Arg-rich.|Glu-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		ACGCATGCACGTGGAGCACGA	0.711																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(2026-2028)Gtg>Atg		scaffold attachment factor B							15	18	17					19																	5661692		2196	4288	6484	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5661692G>A	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"RNA binding motif (RRM) containing"	10520	protein-coding gene	gene with protein product	"Hsp27 ERE-TATA binding protein"	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2026G>A	19.37:g.5661692G>A	ENSP00000292123:p.Val676Met		Somatic				SAFB_ENST00000538656.1_Missense_Mutation_p.V518M|SAFB_ENST00000454510.1_Missense_Mutation_p.V607M|SAFB_ENST00000433404.1_Missense_Mutation_p.V506M|SAFB_ENST00000592224.1_Missense_Mutation_p.V675M|SAFB_ENST00000588852.1_Missense_Mutation_p.V676M	p.V676M	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	WXS	Illumina GAIIx	Phase_I	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	15	2133	+			676			Arg-rich.|Glu-rich.|Interaction with POLR2A.|Interaction with SAFB2.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.2026G>A	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085553	0.55861	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.10668	2.85;3.01;2.85;2.85	5.38	2.84	0.33178	.	0.165534	0.29822	N	0.011108	T	0.17323	0.0416	M	0.66939	2.045	0.47819	D	0.999528	D;D;D;D;D;D;D	0.63880	0.987;0.987;0.993;0.987;0.987;0.987;0.987	P;P;P;P;P;P;P	0.54706	0.579;0.579;0.759;0.579;0.579;0.579;0.579	T	0.02983	-1.1086	10	0.66056	D	0.02	-24.0568	2.0583	0.03586	0.2594:0.0:0.4538:0.2868	.	475;518;607;675;676;676;675	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	M	607;571;506;676;518	ENSP00000415895:V607M;ENSP00000404545:V506M;ENSP00000292123:V676M;ENSP00000438880:V518M	ENSP00000292123:V676M	V	+	1	0	SAFB	5612692	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.146000	0.58072	1.374000	0.46228	0.455000	0.32223	GTG		0.711	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			12	19	0	0	0	1	0	12	19					A	5661692	G	A	5661692	3	1	21	1	0	0	0	0	1	0	0	0	13821	1145	40	1	2084	1	SAFB	19	5661692	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	530600	5661692	53467291	743	2168										
KHSRP	8570	broad.mit.edu	37	chr19	6417016	6417016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	accctgaggctctggaggagGtcgttgatgatccgggctgc	16	10	1	3	rs554880290	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:6417016G>A	ENST00000398148.3	-	12	1256	c.1164C>T	c.(1162-1164)gaC>gaT	p.D388D	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	388	Gly-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TCTGGAGGAGGTCGTTGATGA	0.642													G|||	2	0.000399361	0	0	5008	,	,		15175	0		0	False		,,,				2504	0.002				Colon(55;593 1006 2067 9135 22980)	ENST00000398148.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						c.(1162-1164)gaC>gaT		KH-type splicing regulatory protein							54	61	59					19																	6417016		1963	4141	6104	SO:0001819	synonymous_variant	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6417016G>A	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1164C>T	19.37:g.6417016G>A			Somatic					p.D388D	NM_003685.2	NP_003676.2	WXS	Illumina GAIIx	Phase_I	Q92945	FUBP2_HUMAN			12	1256	-			388			Gly-rich.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Silent	SNP	ENST00000398148.3	37	c.1164C>T	CCDS45936.1																																																																																				0.642	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			9	103	0	0	0	1	0	9	103					A	6417016	G	A	6417016	2	1	21	1	0	0	0	0	0	0	0	1	8160	1252	44	3		3	KHSRP	19	6417016	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	755324	6417016	52711967	744	2169										
PNPLA6	10908	broad.mit.edu	37	chr19	7623913	7623913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	catggctgaaatccagtcccGcctggcctacgtgtcctgtg	11	14	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:7623913G>A	ENST00000221249.6	+	31	3892	c.3461G>A	c.(3460-3462)cGc>cAc	p.R1154H	PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1192H|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1202H|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R1154H|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R1127H	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1193					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						ATCCAGTCCCGCCTGGCCTAC	0.607																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(3460-3462)cGc>cAc		patatin-like phospholipase domain containing 6							84	64	71					19																	7623913		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7623913G>A	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3461G>A	19.37:g.7623913G>A	ENSP00000221249:p.Arg1154His		Somatic				PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1192H|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R1127H|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1202H|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R1154H	p.R1154H	NM_006702.4	NP_006693.3	WXS	Illumina GAIIx	Phase_I	Q8IY17	PLPL6_HUMAN			31	3892	+			1193					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.3461G>A	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	g	29.0	4.971269	0.92919	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	4.78	4.78	0.61160	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.058982	0.64402	D	0.000001	T	0.67720	0.2923	M	0.91038	3.17	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.972;0.999;0.999	T	0.76708	-0.2860	10	0.87932	D	0	-26.932	15.3194	0.74109	0.0:0.0:1.0:0.0	.	1193;1127;1192;1154	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	H	1154;1127;1202;1154	ENSP00000221249:R1154H;ENSP00000443323:R1127H;ENSP00000407509:R1202H;ENSP00000394348:R1154H	ENSP00000221249:R1154H	R	+	2	0	PNPLA6	7529913	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.209000	0.71365	0.561000	0.74099	CGC		0.607	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		31	40	0	0	0	1	0	31	40					A	7623913	G	A	7623913	3	1	21	1	0	0	0	0	1	0	0	0	12178	1087	38	1	3719	1	PNPLA6	19	7623913	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1206897	7623913	51505070	745	2170										
MUC16	94025	broad.mit.edu	37	chr19	9062393	9062394	+	Frame_Shift_Del	DEL	TG	TG	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtcctcacgttggtcactgcTgtgtgtgtggaaggctgcat							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:9062393_9062394delTG	ENST00000397910.4	-	3	25255_25256	c.25052_25053delCA	c.(25051-25053)acafs	p.T8351fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8353	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						TGGTCACTGCTGTGTGTGTGGA	0.485																																						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.(25051-25053)afs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062393_9062394delTG	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.25052_25053delCA	19.37:g.9062401_9062402delTG	ENSP00000381008:p.Thr8351fs		Somatic					p.T8351fs	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	25255_25256	-			8353			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.25052_25053delCA	CCDS54212.1																																																																																				0.485	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		57	88						57	88	---	---	---	---	-	9062394	TG	-	9062393	7	5	21	1	0	1	0	1	0	0	0	0	9982	1567	55	0	18798	0	MUC16	19	9062393	Frame_Shift_Del	DEL	TG	TCGA-N7-A4Y0-01A-12D-A28R-08	1438480	9062393	50066590	746	2171										
OLFM2	93145	broad.mit.edu	37	chr19	9964925	9964925	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttgtagagcacctggtggccGttgttccaggtatagagggc	15	8	0	2	rs139281596		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:9964925G>A	ENST00000264833.4	-	6	1487	c.1302C>T	c.(1300-1302)aaC>aaT	p.N434N	OLFM2_ENST00000590841.1_Silent_p.N356N|AC008752.3_ENST00000582439.1_RNA	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	434	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CCTGGTGGCCGTTGTTCCAGG	0.602													G|||	1	0.000199681	0	0	5008	,	,		16058	0		0.001	False		,,,				2504	0					ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1300-1302)aaC>aaT		olfactomedin 2		G		1,4405	2.1+/-5.4	0,1,2202	94	82	86		1302	-2.2	1	19	dbSNP_134	86	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous	OLFM2	NM_058164.2		0,11,6492	AA,AG,GG		0.1163,0.0227,0.0846		434/455	9964925	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	93145					extracellular region		g.chr19:9964925G>A	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.1302C>T	19.37:g.9964925G>A			Somatic				OLFM2_ENST00000590841.1_Silent_p.N356N	p.N434N	NM_058164.2	NP_477512.1	WXS	Illumina GAIIx	Phase_I	O95897	NOE2_HUMAN			6	1487	-			434			Olfactomedin-like.		Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	c.1302C>T	CCDS12221.1																																																																																				0.602	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			52	61	0	0	0	1	0	52	61					A	9964925	G	A	9964925	2	1	21	1	0	0	0	0	0	0	0	1	10862	1136	40	1		1	OLFM2	19	9964925	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	902532	9964925	49164058	747	2172										
COL5A3	50509	broad.mit.edu	37	chr19	10078753	10078753	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gagccaatgggaccagggggAccctaggaaaaggacatcgg	16	9	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:10078753A>G	ENST00000264828.3	-	60	4402	c.4317T>C	c.(4315-4317)ggT>ggC	p.G1439G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1439	Collagen-like 6.|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)			GACCAGGGGGACCCTAGGAAA	0.582																																						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.(4315-4317)ggT>ggC		collagen, type V, alpha 3							49	46	47					19																	10078753		2203	4300	6503	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10078753A>G	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.4317T>C	19.37:g.10078753A>G			Somatic					p.G1439G	NM_015719.3	NP_056534.2	WXS	Illumina GAIIx	Phase_I	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		60	4402	-			1439			Triple-helical region.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.4317T>C	CCDS12222.1																																																																																				0.582	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		37	52	0	0	0	1	0	37	52					G	10078753	A	G	10078753	2	3	21	1	0	0	0	0	0	0	0	1	3700	262	10	4		4	COL5A3	19	10078753	Silent	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	113828	10078753	49050230	748	2173										
S1PR2	9294	broad.mit.edu	37	chr19	10335188	10335188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cttgaccttggcaatggccaCgtggcgctcaatggcgatgg	14	11	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:10335188C>T	ENST00000590320.1	-	2	504	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	132					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)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCAATGGCCACGTGGCGCTCA	0.637																																					Pancreas(194;229 3020 15179 45747)	ENST00000590320.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(394-396)Gtg>Atg		sphingosine-1-phosphate receptor 2							44	41	42					19																	10335188		2203	4300	6503	SO:0001583	missense	9294				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10335188C>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.394G>A	19.37:g.10335188C>T	ENSP00000466933:p.Val132Met		Somatic					p.V132M	NM_004230.3	NP_004221.3	WXS	Illumina GAIIx	Phase_I	O95136	S1PR2_HUMAN			2	504	-			132					Q86UN8	Missense_Mutation	SNP	ENST00000590320.1	37	c.394G>A	CCDS12229.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124120	0.56613	.	.	ENSG00000175898	ENST00000317726	.	.	.	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.144437	0.45606	D	0.000357	T	0.75125	0.3807	M	0.63208	1.945	0.46564	D	0.999105	D	0.71674	0.998	D	0.64237	0.923	T	0.72014	-0.4418	9	0.31617	T	0.26	.	18.0738	0.89421	0.0:1.0:0.0:0.0	.	132	O95136	S1PR2_HUMAN	M	132	.	ENSP00000322049:V132M	V	-	1	0	S1PR2	10196188	0.856000	0.29760	0.996000	0.52242	0.945000	0.59286	0.831000	0.27476	2.557000	0.86248	0.586000	0.80456	GTG		0.637	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		29	43	0	0	0	1	0	29	43					T	10335188	C	T	10335188	3	4	21	1	0	0	0	0	1	0	0	0	13809	536	19	1	671	1	S1PR2	19	10335188	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	256435	10335188	48793795	749	2174										
TSPAN16	26526	broad.mit.edu	37	chr19	11409591	11409591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cctcatcatggaagttacagCtgccacagtggtccttcttt	8	12	3	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:11409591C>T	ENST00000316737.1	+	3	461	c.311C>T	c.(310-312)gCt>gTt	p.A104V	TSPAN16_ENST00000590327.1_Missense_Mutation_p.A104V|CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Intron	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	104						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GAAGTTACAGCTGCCACAGTG	0.512																																						ENST00000316737.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						c.(310-312)gCt>gTt		tetraspanin 16							216	166	183					19																	11409591		2203	4300	6503	SO:0001583	missense	26526					integral to membrane		g.chr19:11409591C>T	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.311C>T	19.37:g.11409591C>T	ENSP00000319486:p.Ala104Val		Somatic				TSPAN16_ENST00000590327.1_Missense_Mutation_p.A104V|TSPAN16_ENST00000592955.1_Intron	p.A104V	NM_012466.2	NP_036598.1	WXS	Illumina GAIIx	Phase_I	Q9UKR8	TSN16_HUMAN			3	461	+			104					K7EN22|K7EPD8|Q8N6J7	Missense_Mutation	SNP	ENST00000316737.1	37	c.311C>T	CCDS12256.1	.	.	.	.	.	.	.	.	.	.	C	5.890	0.348272	0.11126	.	.	ENSG00000130167	ENST00000316737;ENST00000337994	T;T	0.79845	-1.31;-1.31	2.84	-2.26	0.06867	.	0.948528	0.08544	N	0.930118	T	0.68604	0.3019	L	0.41492	1.28	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.50215	-0.8854	10	0.21014	T	0.42	-2.3864	7.8486	0.29440	0.0:0.628:0.0:0.372	.	104	Q9UKR8	TSN16_HUMAN	V	104	ENSP00000319486:A104V;ENSP00000338759:A104V	ENSP00000319486:A104V	A	+	2	0	TSPAN16	11270591	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.462000	0.06704	-0.446000	0.07149	0.448000	0.29417	GCT		0.512	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453204.1	NM_012466		30	69	0	0	0	1	0	30	69					T	11409591	C	T	11409591	3	4	21	1	0	0	0	0	1	0	0	0	16655	797	28	3	321	3	TSPAN16	19	11409591	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1074403	11409591	47719392	750	2175										
ZNF433	163059	broad.mit.edu	37	chr19	12127235	12127235	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaggagagacagttgaaaggTtttttacagtatttacattt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:12127235delT	ENST00000344980.6	-	4	617	c.447delA	c.(445-447)aaafs	p.K149fs	CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000419886.2_Frame_Shift_Del_p.K114fs|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						AGTTGAAAGGTTTTTTACAGT	0.368																																						ENST00000419886.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						c.(340-342)aafs		zinc finger protein 433							122	127	126					19																	12127235		2127	4264	6391	SO:0001589	frameshift_variant	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12127235delT	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.447delA	19.37:g.12127235delT	ENSP00000339767:p.Lys149fs		Somatic				CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000344980.6_Frame_Shift_Del_p.K149fs|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA	p.K114fs			WXS	Illumina GAIIx	Phase_I	Q8N7K0	ZN433_HUMAN			5	633	-			149					Q86VX3	Frame_Shift_Del	DEL	ENST00000344980.6	37	c.342delA	CCDS45983.1																																																																																				0.368	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		61	89						61	89	---	---	---	---	-	12127235	T	-	12127235	7	5	21	1	0	1	0	1	0	0	0	0	17922	1722	60	0	1578	0	ZNF433	19	12127235	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	717644	12127235	47001748	751	2176										
TNPO2	30000	broad.mit.edu	37	chr19	12825886	12825886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgatgctgtgcatgtgggggAtgagcctgtcaatccgcact	14	9	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:12825886A>G	ENST00000592287.1	-	8	854	c.746T>C	c.(745-747)aTc>aCc	p.I249T	TNPO2_ENST00000441499.1_Missense_Mutation_p.I249T|TNPO2_ENST00000425528.1_Missense_Mutation_p.I249T|TNPO2_ENST00000588216.1_Missense_Mutation_p.I249T|TNPO2_ENST00000356861.5_Missense_Mutation_p.I249T|TNPO2_ENST00000450764.2_Missense_Mutation_p.I249T|TNPO2_ENST00000589956.1_Intron	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	249					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATGTGGGGGATGAGCCTGTC	0.642																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(745-747)aTc>aCc		transportin 2							61	66	64					19																	12825886		2131	4234	6365	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12825886A>G	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.746T>C	19.37:g.12825886A>G	ENSP00000468434:p.Ile249Thr		Somatic				TNPO2_ENST00000592287.1_Missense_Mutation_p.I249T|TNPO2_ENST00000441499.1_Missense_Mutation_p.I249T|TNPO2_ENST00000588216.1_Missense_Mutation_p.I249T|TNPO2_ENST00000356861.5_Missense_Mutation_p.I249T|TNPO2_ENST00000450764.2_Missense_Mutation_p.I249T|TNPO2_ENST00000589956.1_Intron	p.I249T			WXS	Illumina GAIIx	Phase_I	O14787	TNPO2_HUMAN			9	1103	-			249					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.746T>C	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.639515	0.47153	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.212422	0.48767	D	0.000177	T	0.64821	0.2633	M	0.65975	2.015	0.47584	D	0.999464	B;B	0.18610	0.029;0.0	B;B	0.14578	0.011;0.004	T	0.60885	-0.7174	10	0.29301	T	0.29	-6.5813	14.8144	0.70020	1.0:0.0:0.0:0.0	.	413;249	Q4LE60;O14787	.;TNPO2_HUMAN	T	413;249;249;249;249;249;249	ENSP00000407182:I249T;ENSP00000389648:I249T;ENSP00000397379:I249T;ENSP00000349321:I249T	ENSP00000349321:I249T	I	-	2	0	TNPO2	12686886	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.687000	0.91255	2.144000	0.66660	0.454000	0.30748	ATC		0.642	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		37	43	0	0	0	1	0	37	43					G	12825886	A	G	12825886	3	3	21	1	0	0	0	0	1	0	0	0	16351	333	12	4	2015	4	TNPO2	19	12825886	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	698651	12825886	46303097	752	2177										
MRI1	84245	broad.mit.edu	37	chr19	13879657	13879657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gctgtggtcgtgggagctgaCcgcgtggttgccaacggcga	18	10	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:13879657C>T	ENST00000040663.6	+	5	784	c.744C>T	c.(742-744)gaC>gaT	p.D248D	MRI1_ENST00000319545.8_Silent_p.D201D	NM_001031727.2	NP_001026897.1			methylthioribose-1-phosphate isomerase 1											breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TGGGAGCTGACCGCGTGGTTG	0.647																																						ENST00000319545.8																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						c.(601-603)gaC>gaT		methylthioribose-1-phosphate isomerase 1							57	47	51					19																	13879657		2203	4300	6503	SO:0001819	synonymous_variant	84245				L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity	g.chr19:13879657C>T		CCDS12297.1, CCDS32923.1	19p13.13	2013-05-29	2013-05-29			ENSG00000037757	5.3.1.23		28469	protein-coding gene	gene with protein product	"mediator of RhoA-dependent invasion", "S-methyl-5-thioribose-1-phosphate isomerase 1"	615105	"methylthioribose-1-phosphate isomerase homolog (S. cerevisiae)"			15215245, 19620624, 23124037	Standard	XR_244089		Approved	MGC3207, Ypr118w, mtnA, MRDI	uc002mxe.3	Q9BV20		ENST00000040663.6:c.744C>T	19.37:g.13879657C>T			Somatic				MRI1_ENST00000040663.6_Silent_p.D248D	p.D201D	NM_032285.2	NP_115661.1	WXS	Illumina GAIIx	Phase_I	Q9BV20	MTNA_HUMAN			5	660	+			248						Silent	SNP	ENST00000040663.6	37	c.603C>T	CCDS32923.1																																																																																				0.647	MRI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453424.1	NM_032285		10	29	0	0	0	1	0	10	29					T	13879657	C	T	13879657	2	4	21	1	0	0	0	0	0	0	0	1	9779	506	18	3		3	MRI1	19	13879657	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1053771	13879657	45249326	753	2178										
NOTCH3	4854	broad.mit.edu	37	chr19	15295220	15295220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	accatgagggccacagggtgCggggccagcacactcgtcca	14	14	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:15295220C>T	ENST00000263388.2	-	16	2527	c.2452G>A	c.(2452-2454)Gca>Aca	p.A818T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	818	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A818S(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCACAGGGTGCGGGGCCAGCA	0.612																																						ENST00000263388.2																			2	Substitution - Missense(2)	p.A818S(2)	lung(2)	breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(2452-2454)Gca>Aca		notch 3							74	62	66					19																	15295220		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15295220C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2452G>A	19.37:g.15295220C>T	ENSP00000263388:p.Ala818Thr		Somatic					p.A818T	NM_000435.2	NP_000426.2	WXS	Illumina GAIIx	Phase_I	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		16	2527	-			818			EGF-like 21; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.2452G>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	9.654	1.142237	0.21205	.	.	ENSG00000074181	ENST00000263388	T	0.66815	-0.23	4.66	-2.39	0.06602	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.350163	0.16457	N	0.213574	T	0.42471	0.1204	N	0.16790	0.44	0.09310	N	1	B	0.20550	0.046	B	0.22880	0.042	T	0.21211	-1.0252	10	0.40728	T	0.16	.	5.6489	0.17604	0.2715:0.4284:0.0:0.3001	.	818	Q9UM47	NOTC3_HUMAN	T	818	ENSP00000263388:A818T	ENSP00000263388:A818T	A	-	1	0	NOTCH3	15156220	0.876000	0.30132	0.381000	0.26106	0.269000	0.26545	0.971000	0.29396	-0.304000	0.08843	-1.433000	0.01084	GCA		0.612	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		23	50	0	0	0	1	0	23	50					T	15295220	C	T	15295220	3	4	21	1	0	0	0	0	1	0	0	0	10559	768	27	1	4585	1	NOTCH3	19	15295220	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1415563	15295220	43833763	754	2179										
RASAL3	64926	broad.mit.edu	37	chr19	15572069	15572069	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	atggccacgtggatgctgccCtcggagctagcacttcccac	11	15	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:15572069C>A	ENST00000343625.7	-	4	589	c.504G>T	c.(502-504)gaG>gaT	p.E168D		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	168					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GGATGCTGCCCTCGGAGCTAG	0.627																																						ENST00000343625.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						c.(502-504)gaG>gaT		RAS protein activator like 3							40	43	42					19																	15572069		1931	4130	6061	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15572069C>A		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.504G>T	19.37:g.15572069C>A	ENSP00000341905:p.Glu168Asp		Somatic					p.E168D	NM_022904.1	NP_075055.1	WXS	Illumina GAIIx	Phase_I	Q86YV0	RASL3_HUMAN			4	584	-			168					Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.504G>T	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	C	9.398	1.077284	0.20227	.	.	ENSG00000105122	ENST00000343625	T	0.29142	1.58	3.88	-2.39	0.06602	.	0.000000	0.32769	U	0.005677	T	0.24122	0.0584	L	0.56769	1.78	0.09310	N	1	P	0.34522	0.455	B	0.34138	0.176	T	0.13522	-1.0506	10	0.44086	T	0.13	.	8.1321	0.31033	0.0:0.5186:0.0:0.4814	.	168	Q86YV0	RASL3_HUMAN	D	168	ENSP00000341905:E168D	ENSP00000341905:E168D	E	-	3	2	RASAL3	15433069	0.000000	0.05858	0.012000	0.15200	0.290000	0.27261	-0.697000	0.05098	-0.513000	0.06496	0.462000	0.41574	GAG		0.627	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		13	21	1	0	9.31168e-06	1	9.57367e-06	13	21					A	15572069	C	A	15572069	3	1	21	1	0	0	0	0	1	0	0	0	13080	680	24	5	2591	5	RASAL3	19	15572069	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	276849	15572069	43556914	755	2180										
EPS15L1	58513	broad.mit.edu	37	chr19	16528892	16528892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggtctttgcttaacttccccGtttgcctcgtatcggccagg	10	13	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:16528892G>A	ENST00000248070.6	-	11	1113	c.974C>T	c.(973-975)aCg>aTg	p.T325M	EPS15L1_ENST00000594975.1_Missense_Mutation_p.T325M|EPS15L1_ENST00000597937.1_Missense_Mutation_p.T325M|EPS15L1_ENST00000455140.2_Missense_Mutation_p.T325M|EPS15L1_ENST00000535753.2_Missense_Mutation_p.T325M|EPS15L1_ENST00000602009.1_Missense_Mutation_p.T171M	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	325	EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TAACTTCCCCGTTTGCCTCGT	0.537											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000602009.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(511-513)aCg>aTg		epidermal growth factor receptor pathway substrate 15-like 1							190	137	155					19																	16528892		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16528892G>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.974C>T	19.37:g.16528892G>A	ENSP00000248070:p.Thr325Met		Somatic	OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	711	EPS15L1_ENST00000535753.2_Missense_Mutation_p.T325M|EPS15L1_ENST00000594975.1_Missense_Mutation_p.T325M|EPS15L1_ENST00000248070.6_Missense_Mutation_p.T325M|EPS15L1_ENST00000455140.2_Missense_Mutation_p.T325M|EPS15L1_ENST00000597937.1_Missense_Mutation_p.T325M	p.T171M			WXS	Illumina GAIIx	Phase_I	Q9UBC2	EP15R_HUMAN			5	1407	-			325			EF-hand.|EH 2.		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.512C>T	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801080	0.31869	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.29917	1.55;1.55;1.55	4.55	3.49	0.39957	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.221003	0.46442	N	0.000297	T	0.23094	0.0558	L	0.39633	1.23	0.38241	D	0.941316	B;B;B;B;B;B	0.33512	0.154;0.067;0.126;0.415;0.075;0.158	B;B;B;B;B;B	0.33121	0.082;0.067;0.12;0.158;0.072;0.092	T	0.11542	-1.0583	10	0.54805	T	0.06	.	7.2046	0.25899	0.2496:0.0:0.7504:0.0	.	325;325;324;325;325;325	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	M	325	ENSP00000393313:T325M;ENSP00000248070:T325M;ENSP00000440103:T325M	ENSP00000248070:T325M	T	-	2	0	EPS15L1	16389892	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.888000	0.28268	1.059000	0.40554	0.655000	0.94253	ACG		0.537	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		27	43	0	0	0	1	0	27	43					A	16528892	G	A	16528892	3	1	21	1	0	0	0	0	1	0	0	0	5195	1145	40	1	1672	1	EPS15L1	19	16528892	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	956823	16528892	42600091	756	2181										
CPAMD8	27151	broad.mit.edu	37	chr19	17108016	17108016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctgcacgggggtggagtcatCgaacgcgacctgctggctcc	15	13	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:17108016C>T	ENST00000443236.1	-	11	1172	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N	CPAMD8_ENST00000388925.4_Missense_Mutation_p.D334N	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	334						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						GTGGAGTCATCGAACGCGACC	0.642																																						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.(1141-1143)Gat>Aat		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							38	38	38					19																	17108016		1943	4094	6037	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17108016C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1141G>A	19.37:g.17108016C>T	ENSP00000402505:p.Asp381Asn		Somatic				CPAMD8_ENST00000388925.4_Missense_Mutation_p.D334N	p.D381N	NM_015692.2	NP_056507.2	WXS	Illumina GAIIx	Phase_I	Q8IZJ3	CPMD8_HUMAN			11	1172	-			334					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.1141G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	c	14.50	2.553805	0.45487	.	.	ENSG00000160111	ENST00000291440;ENST00000388925	T;T	0.51817	0.69;0.71	3.0	3.0	0.34707	.	0.000000	0.64402	D	0.000002	T	0.62208	0.2409	L	0.54965	1.715	0.45567	D	0.998512	D	0.89917	1.0	D	0.85130	0.997	T	0.65183	-0.6230	10	0.51188	T	0.08	.	14.3086	0.66400	0.0:1.0:0.0:0.0	.	334	Q8IZJ3	CPMD8_HUMAN	N	381;334	ENSP00000291440:D381N;ENSP00000373577:D334N	ENSP00000291440:D381N	D	-	1	0	CPAMD8	16969016	1.000000	0.71417	0.010000	0.14722	0.018000	0.09664	4.747000	0.62141	1.423000	0.47198	0.555000	0.69702	GAT		0.642	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		17	25	0	0	0	1	0	17	25					T	17108016	C	T	17108016	3	4	21	1	0	0	0	0	1	0	0	0	3797	884	31	1	4785	1	CPAMD8	19	17108016	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	579124	17108016	42020967	757	2182										
GLT25D1	79709	broad.mit.edu	37	chr19	17691986	17691986	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcccctcctcctccccccagGtccgagtacaaggcccactt	6	21	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:17691986G>A	ENST00000252599.4	+	12	1722	c.1602G>A	c.(1600-1602)gtG>gtA	p.V534V		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	534					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										CTCCCCCCAGGTCCGAGTACA	0.592																																						ENST00000252599.4																			0											c.e12-1		collagen beta(1-O)galactosyltransferase 1							212	214	213					19																	17691986		2203	4300	6503	SO:0001630	splice_region_variant	79709							g.chr19:17691986G>A	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1602-1G>A	19.37:g.17691986G>A			Somatic					p.V534_splice	NM_024656.2	NP_078932.2	WXS	Illumina GAIIx	Phase_I					12	1722	+								Q8NC64	Splice_Site	SNP	ENST00000252599.4	37	c.1601_splice	CCDS12363.1																																																																																				0.592	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656	Silent	172	270	0	0	0	1	0	172	270					A	17691986	G	A	17691986	5	1	21	1	0	0	0	0	0	0	1	0	6474	1275	44	3	1648	3	GLT25D1	19	17691986	Splice_Site	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	583970	17691986	41436997	758	2183										
MAP1S	55201	broad.mit.edu	37	chr19	17836817	17836817	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cccaactctgagggcctgtgCgaattcctggagtacgtggc	13	12	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:17836817C>T	ENST00000324096.4	+	5	775	c.624C>T	c.(622-624)tgC>tgT	p.C208C	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Silent_p.C182C|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	208	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						AGGGCCTGTGCGAATTCCTGG	0.716																																						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.(622-624)tgC>tgT		microtubule-associated protein 1S							23	24	24					19																	17836817		2201	4297	6498	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.chr19:17836817C>T	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.624C>T	19.37:g.17836817C>T			Somatic				MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.C182C	p.C208C	NM_018174.4	NP_060644.4	WXS	Illumina GAIIx	Phase_I	Q66K74	MAP1S_HUMAN			5	775	+			208			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.624C>T	CCDS32954.1																																																																																				0.716	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		13	15	0	0	0	1	0	13	15					T	17836817	C	T	17836817	2	4	21	1	0	0	0	0	0	0	0	1	9243	776	27	1		1	MAP1S	19	17836817	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	144831	17836817	41292166	759	2184										
JAK3	3718	broad.mit.edu	37	chr19	17955064	17955064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gctggccttggcagcctgcaCgcacaggtcctcagccaagt	12	15	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:17955064C>T	ENST00000527670.1	-	1	192	c.163G>A	c.(163-165)Gtg>Atg	p.V55M	JAK3_ENST00000534444.1_Missense_Mutation_p.V55M|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000458235.1_Missense_Mutation_p.V55M			P52333	JAK3_HUMAN	Janus kinase 3	55	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				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.V55L(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)	GCAGCCTGCACGCACAGGTCC	0.657		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 - Missense(2)	p.V55L(2)	lung(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.(163-165)Gtg>Atg		Janus kinase 3							15	17	17					19																	17955064		2200	4292	6492	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.chr19:17955064C>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.163G>A	19.37:g.17955064C>T	ENSP00000432511:p.Val55Met		Somatic				JAK3_ENST00000534444.1_Missense_Mutation_p.V55M|JAK3_ENST00000527670.1_Missense_Mutation_p.V55M|JAK3_ENST00000526008.1_5'UTR	p.V55M	NM_000215.3	NP_000206.2	WXS	Illumina GAIIx	Phase_I	P52333	JAK3_HUMAN			2	262	-			55			FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.163G>A	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310027	0.60414	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.76839	-1.05;-1.05;-1.05	5.28	4.24	0.50183	Band 4.1 domain (1);FERM domain (1);	0.291781	0.30752	N	0.008946	D	0.82481	0.5046	L	0.55481	1.735	0.35454	D	0.795949	D;D;D;P	0.89917	1.0;1.0;0.989;0.945	D;D;P;B	0.69479	0.964;0.964;0.606;0.194	D	0.86316	0.1689	10	0.87932	D	0	-24.4757	8.8494	0.35190	0.0:0.9002:0.0:0.0998	.	98;55;55;55	B4E2R5;B4DK43;P52333-2;P52333	.;.;.;JAK3_HUMAN	M	55	ENSP00000391676:V55M;ENSP00000432511:V55M;ENSP00000436421:V55M	ENSP00000413248:V55M	V	-	1	0	JAK3	17816064	0.976000	0.34144	0.724000	0.30704	0.983000	0.72400	2.785000	0.47782	2.452000	0.82932	0.655000	0.94253	GTG		0.657	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		8	11	0	0	0	1	0	8	11					T	17955064	C	T	17955064	3	4	21	1	0	0	0	0	1	0	0	0	7948	536	19	1	3303	1	JAK3	19	17955064	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	118247	17955064	41173919	760	2185										
KIAA1683	80726	broad.mit.edu	37	chr19	18378026	18378026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctccagttggcttggatgagCgtggctgcacgggcgtgcat	16	10	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:18378026C>T	ENST00000600328.3	-	3	517	c.324G>A	c.(322-324)acG>acA	p.T108T	KIAA1683_ENST00000392413.4_Silent_p.T108T|KIAA1683_ENST00000600359.3_Silent_p.T62T			Q9H0B3	K1683_HUMAN	KIAA1683	108	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.T108T(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTTGGATGAGCGTGGCTGCAC	0.637																																						ENST00000392413.3																			1	Substitution - coding silent(1)	p.T108T(1)	large_intestine(1)	breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(322-324)acG>acA		KIAA1683							70	68	69					19																	18378026		2203	4300	6503	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18378026C>T	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.324G>A	19.37:g.18378026C>T			Somatic				KIAA1683_ENST00000600328.2_Silent_p.T108T|KIAA1683_ENST00000600359.2_Silent_p.T62T	p.T108T	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	WXS	Illumina GAIIx	Phase_I	Q9H0B3	K1683_HUMAN			3	539	-			108			IQ 1.		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.324G>A	CCDS32958.1																																																																																				0.637	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			56	70	0	0	0	1	0	56	70					T	18378026	C	T	18378026	2	4	21	1	0	0	0	0	0	0	0	1	8260	755	27	1		1	KIAA1683	19	18378026	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	422962	18378026	40750957	761	2186										
ELL	8178	broad.mit.edu	37	chr19	18569071	18569073	+	In_Frame_Del	DEL	CTT	CTT	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tccgagtagccaggccagtcCttctgcacatccttgtacat							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:18569071_18569073delCTT	ENST00000262809.4	-	6	882_884	c.811_813delAAG	c.(811-813)aagdel	p.K271del	ELL_ENST00000596124.3_In_Frame_Del_p.K138del	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	271					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CAGGCCAGTCCTTCTGCACATCC	0.601			T	MLL	AL																																	ENST00000262809.4				Dom	yes		19	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)			L	MLL		AL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19						c.(811-813)del		elongation factor RNA polymerase II																																				SO:0001651	inframe_deletion	8178				positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	g.chr19:18569071_18569073delCTT	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23114	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 68"	600284	"chromosome 19 open reading frame 17"	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.811_813delAAG	19.37:g.18569071_18569073delCTT	ENSP00000262809:p.Lys271del		Somatic					p.K271del	NM_006532.3	NP_006523.1	WXS	Illumina GAIIx	Phase_I	P55199	ELL_HUMAN		GBM - Glioblastoma multiforme(1328;7.81e-07)	6	882_884	-			271						In_Frame_Del	DEL	ENST00000262809.4	37	c.811_813delAAG	CCDS12380.1																																																																																				0.601	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		30	50						30	50	---	---	---	---	-	18569073	CTT	-	18569071	7	5	21	1	0	1	0	1	0	0	0	0	5064	680	24	0	1080	0	ELL	19	18569071	In_Frame_Del	DEL	CTT	TCGA-N7-A4Y0-01A-12D-A28R-08	191045	18569071	40559912	762	2187										
SLC25A42	284439	broad.mit.edu	37	chr19	19218753	19218753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	catctcgagagaagaggggcTgaagactctctaccatggat	12	9	2	4			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:19218753T>C	ENST00000318596.7	+	7	699	c.548T>C	c.(547-549)cTg>cCg	p.L183P	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	183					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)			GAAGAGGGGCTGAAGACTCTC	0.562																																						ENST00000318596.7																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(547-549)cTg>cCg		solute carrier family 25, member 42							115	102	106					19																	19218753		2203	4300	6503	SO:0001583	missense	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19218753T>C		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.548T>C	19.37:g.19218753T>C	ENSP00000326693:p.Leu183Pro		Somatic				SLC25A42_ENST00000600275.1_3'UTR	p.L183P	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	699	+			183					D2T2J5|O14553|O43378	Missense_Mutation	SNP	ENST00000318596.7	37	c.548T>C	CCDS32966.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.503781	0.44558	.	.	ENSG00000181035	ENST00000318596	T	0.80738	-1.41	5.26	5.26	0.73747	Mitochondrial carrier domain (2);	0.073354	0.56097	D	0.000031	T	0.70116	0.3187	N	0.17631	0.505	0.80722	D	1	B	0.14012	0.009	B	0.21151	0.033	T	0.66814	-0.5828	10	0.49607	T	0.09	-11.0862	14.3496	0.66691	0.0:0.0:0.0:1.0	.	183	Q86VD7	S2542_HUMAN	P	183	ENSP00000326693:L183P	ENSP00000326693:L183P	L	+	2	0	SLC25A42	19079753	1.000000	0.71417	0.798000	0.32154	0.710000	0.40934	6.724000	0.74747	1.982000	0.57802	0.402000	0.26972	CTG		0.562	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		118	88	0	0	0	1	0	118	88					C	19218753	T	C	19218753	3	2	21	1	0	0	0	0	1	0	0	0	14522	1580	55	4	570	4	SLC25A42	19	19218753	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	649682	19218753	39910230	763	2188										
ANKRD27	84079	broad.mit.edu	37	chr19	33095253	33095253	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agcagaagcagctctaccacGaagacgtgcttttcaatcac	8	12	3	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:33095253G>A	ENST00000306065.4	-	25	2729	c.2571C>T	c.(2569-2571)ttC>ttT	p.F857F		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	857					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.F857F(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GCTCTACCACGAAGACGTGCT	0.557																																						ENST00000306065.4																			1	Substitution - coding silent(1)	p.F857F(1)	breast(1)	breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(2569-2571)ttC>ttT		ankyrin repeat domain 27 (VPS9 domain)							75	56	62					19																	33095253		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.chr19:33095253G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.2571C>T	19.37:g.33095253G>A			Somatic					p.F857F	NM_032139.2	NP_115515.2	WXS	Illumina GAIIx	Phase_I	Q96NW4	ANR27_HUMAN			25	2729	-	Esophageal squamous(110;0.137)		857					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.2571C>T	CCDS32986.1																																																																																				0.557	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		23	25	0	0	0	1	0	23	25					A	33095253	G	A	33095253	2	1	21	1	0	0	0	0	0	0	0	1	655	1049	37	1		1	ANKRD27	19	33095253	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	13876500	33095253	26033730	764	2189										
GRAMD1A	57655	broad.mit.edu	37	chr19	35500223	35500223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggcagccggaacttcatccGcaacagcaaggttggtgcaa	12	11	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:35500223G>A	ENST00000317991.5	+	2	401	c.209G>A	c.(208-210)cGc>cAc	p.R70H	GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R70H|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R157H|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R70H	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	70						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AACTTCATCCGCAACAGCAAG	0.622																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(469-471)cGc>cAc		GRAM domain containing 1A							42	50	48					19																	35500223		1974	4144	6118	SO:0001583	missense	57655					integral to membrane		g.chr19:35500223G>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"KIAA1533"	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.209G>A	19.37:g.35500223G>A	ENSP00000441032:p.Arg70His		Somatic				GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R70H|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R70H|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R70H	p.R157H			WXS	Illumina GAIIx	Phase_I	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	541	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		70			GRAM.		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	c.470G>A	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774953	0.49786	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	T;T	0.25912	1.79;1.77	4.67	4.67	0.58626	.	0.000000	0.56097	U	0.000028	T	0.31167	0.0788	N	0.19112	0.55	0.80722	D	1	D;B;D;D	0.89917	1.0;0.124;0.999;0.999	D;B;P;D	0.70227	0.968;0.007;0.898;0.965	T	0.05818	-1.0862	10	0.62326	D	0.03	.	8.6407	0.33974	0.1016:0.0:0.8984:0.0	.	70;70;70;157	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	H	157;70;70	ENSP00000441032:R70H;ENSP00000439267:R70H	ENSP00000441032:R70H	R	+	2	0	GRAMD1A	40192063	1.000000	0.71417	0.995000	0.50966	0.401000	0.30781	4.137000	0.58010	2.426000	0.82243	0.561000	0.74099	CGC		0.622	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		36	56	0	0	0	1	0	36	56					A	35500223	G	A	35500223	3	1	21	1	0	0	0	0	1	0	0	0	6756	1087	38	1	215	1	GRAMD1A	19	35500223	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2404970	35500223	23628760	765	2190										
MLL4	9757	broad.mit.edu	37	chr19	36229400	36229400	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caagttccccatcgaggatgCcagcaacaagctgccctgca							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:36229400delC	ENST00000222270.7	+	37	8090	c.8090delC	c.(8089-8091)gccfs	p.A2697fs	KMT2B_ENST00000420124.1_Frame_Shift_Del_p.A2697fs|IGFLR1_ENST00000587101.1_5'Flank|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2697					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)										ATCGAGGATGCCAGCAACAAG	0.617																																						ENST00000420124.1																			0											c.(8089-8091)gcfs									56	59	58					19																	36229400		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr19:36229400delC	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.8090delC	19.37:g.36229400delC	ENSP00000222270:p.Ala2697fs		Somatic				KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Frame_Shift_Del_p.A2697fs	p.A2697fs			WXS	Illumina GAIIx	Phase_I					37	8090	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	ENST00000222270.7	37	c.8090delC	CCDS46055.1																																																																																				0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		22	28						22	28	---	---	---	---	-	36229400	C	-	36229400	7	5	21	1	0	1	0	1	0	0	0	0	9632	739	26	0	8236	0	MLL4	19	36229400	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	729177	36229400	22899583	766	2191										
APLP1	333	broad.mit.edu	37	chr19	36365461	36365461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggtgtctggtgagcgacagcGcctggtggaaacccacgcca	15	12	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:36365461G>A	ENST00000221891.4	+	9	1304	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	APLP1_ENST00000537454.2_Missense_Mutation_p.R332H|APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000586861.1_Missense_Mutation_p.R365H	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	371					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)			GAGCGACAGCGCCTGGTGGAA	0.652																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(1111-1113)cGc>cAc		amyloid beta (A4) precursor-like protein 1							69	73	71					19																	36365461		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.chr19:36365461G>A	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1112G>A	19.37:g.36365461G>A	ENSP00000221891:p.Arg371His		Somatic				APLP1_ENST00000586861.1_Missense_Mutation_p.R365H|APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Missense_Mutation_p.R332H	p.R371H	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)		9	1304	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		371					O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.1112G>A	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977718	0.92982	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.51071	0.72;0.72	4.51	4.51	0.55191	Amyloidogenic glycoprotein, E2 domain (2);	0.139520	0.33496	N	0.004860	T	0.63283	0.2498	L	0.60455	1.87	0.58432	D	0.999998	D;D;D;D	0.89917	0.993;0.99;1.0;1.0	P;P;D;D	0.66716	0.722;0.75;0.91;0.946	T	0.67726	-0.5596	10	0.87932	D	0	-10.9544	14.718	0.69284	0.0:0.0:1.0:0.0	.	365;332;371;371	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	H	332;371	ENSP00000441501:R332H;ENSP00000221891:R371H	ENSP00000221891:R371H	R	+	2	0	APLP1	41057301	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.399000	0.52586	2.058000	0.61347	0.555000	0.69702	CGC		0.652	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		75	86	0	0	0	1	0	75	86					A	36365461	G	A	36365461	3	1	21	1	0	0	0	0	1	0	0	0	778	1087	38	1	1146	1	APLP1	19	36365461	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	136061	36365461	22763522	767	2192										
WDR62	284403	broad.mit.edu	37	chr19	36574054	36574054	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgggggagcgagaatgggacAcccatggacgtgaaagccgg	18	9	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:36574054A>G	ENST00000270301.7	+	11	1461	c.1461A>G	c.(1459-1461)acA>acG	p.T487T	WDR62_ENST00000401500.2_Silent_p.T487T			O43379	WDR62_HUMAN	WD repeat domain 62	487					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)			AGAATGGGACACCCATGGACG	0.602																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(1459-1461)acA>acG		WD repeat domain 62							57	51	53					19																	36574054		2203	4300	6503	SO:0001819	synonymous_variant	284403				cerebral cortex development	nucleus		g.chr19:36574054A>G	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.1461A>G	19.37:g.36574054A>G			Somatic				WDR62_ENST00000270301.7_Silent_p.T487T	p.T487T	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)		11	1496	+	Esophageal squamous(110;0.162)		487					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Silent	SNP	ENST00000270301.7	37	c.1461A>G	CCDS33001.1																																																																																				0.602	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		4	14	0	0	0	1	0	4	14					G	36574054	A	G	36574054	2	3	21	1	0	0	0	0	0	0	0	1	17328	146	6	4		4	WDR62	19	36574054	Silent	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	208593	36574054	22554929	768	2193										
ZNF260	339324	broad.mit.edu	37	chr19	37005246	37005246	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttcatagggtttctctcctgTatgaatattgtgatgtttaa	8	5	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:37005246T>C	ENST00000523638.1	-	3	2016	c.895A>G	c.(895-897)Aca>Gca	p.T299A	ZNF260_ENST00000593142.1_Missense_Mutation_p.T299A|ZNF260_ENST00000588993.1_Missense_Mutation_p.T299A|ZNF260_ENST00000592282.1_Missense_Mutation_p.T299A	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	299					multicellular organismal development (GO:0007275)|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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TTCTCTCCTGTATGAATATTG	0.353																																						ENST00000523638.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15						c.(895-897)Aca>Gca		zinc finger protein 260							136	129	132					19																	37005246		2203	4300	6503	SO:0001583	missense	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005246T>C	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"Zinc fingers, C2H2-type"	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.895A>G	19.37:g.37005246T>C	ENSP00000429803:p.Thr299Ala		Somatic				ZNF260_ENST00000588993.1_Missense_Mutation_p.T299A|ZNF260_ENST00000592282.1_Missense_Mutation_p.T299A|ZNF260_ENST00000593142.1_Missense_Mutation_p.T299A	p.T299A	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	WXS	Illumina GAIIx	Phase_I	Q3ZCT1	ZN260_HUMAN			3	2016	-	Esophageal squamous(110;0.162)		299					Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	37	c.895A>G	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118091	0.77323	.	.	ENSG00000254004	ENST00000523638	T	0.26518	1.73	4.54	4.54	0.55810	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38639	0.1048	M	0.64997	1.995	0.44736	D	0.997734	P	0.52316	0.952	P	0.52386	0.697	T	0.31613	-0.9937	9	0.72032	D	0.01	.	13.268	0.60146	0.0:0.0:0.0:1.0	.	299	Q3ZCT1	ZN260_HUMAN	A	299	ENSP00000429803:T299A	ENSP00000429803:T299A	T	-	1	0	ZNF260	41697086	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.013000	0.49582	2.019000	0.59389	0.459000	0.35465	ACA		0.353	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		53	50	0	0	0	1	0	53	50					C	37005246	T	C	37005246	3	2	21	1	0	0	0	0	1	0	0	0	17817	1638	57	4	347	4	ZNF260	19	37005246	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	431192	37005246	22123737	769	2194										
ZNF571	51276	broad.mit.edu	37	chr19	38056224	38056224	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agccacgaaaaaaggtcttcCcgcattctttacattcatag	6	11	3	0	rs367979710		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:38056224C>A	ENST00000328550.2	-	4	1205	c.1106G>T	c.(1105-1107)gGg>gTg	p.G369V	ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.G369V|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000451802.2_Missense_Mutation_p.G369V|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.G369V|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)			AAAGGTCTTCCCGCATTCTTT	0.393																																						ENST00000328550.2																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1105-1107)gGg>gTg		zinc finger protein 571							52	46	48					19																	38056224		2203	4299	6502	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056224C>A	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.1106G>T	19.37:g.38056224C>A	ENSP00000333660:p.Gly369Val		Somatic				ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.G369V|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.G369V|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.G369V|ZNF571-AS1_ENST00000589802.1_RNA	p.G369V			WXS	Illumina GAIIx	Phase_I	Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1205	-			369					Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.1106G>T	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630345	0.28978	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.58358	0.34;0.34;0.34	3.6	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.74928	0.3781	M	0.93720	3.45	0.39918	D	0.974113	D	0.89917	1.0	D	0.81914	0.995	T	0.77638	-0.2513	9	0.66056	D	0.02	.	8.7451	0.34580	0.0:0.7928:0.0:0.2072	.	369	Q7Z3V5	ZN571_HUMAN	V	369	ENSP00000333660:G369V;ENSP00000392638:G369V;ENSP00000351594:G369V	ENSP00000333660:G369V	G	-	2	0	ZNF571	42748064	0.200000	0.23398	0.028000	0.17463	0.197000	0.23852	0.810000	0.27183	0.692000	0.31613	0.313000	0.20887	GGG		0.393	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		15	30	1	0	2.31682e-05	1	2.37644e-05	15	30					A	38056224	C	A	38056224	3	1	21	1	0	0	0	0	1	0	0	0	18018	623	22	5	727	5	ZNF571	19	38056224	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1050978	38056224	21072759	770	2195										
PAK4	10298	broad.mit.edu	37	chr19	39664268	39664269	+	Frame_Shift_Ins	INS	-	-	C													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcagcggggggcctggccatINScccccagtcctcctcctcct							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:39664268_39664269insC	ENST00000593690.1	+	6	1143_1144	c.716_717insC	c.(715-720)atccccfs	p.IP239fs	PAK4_ENST00000321944.4_Frame_Shift_Ins_p.IP149fs|PAK4_ENST00000435673.2_Frame_Shift_Ins_p.IP239fs|PAK4_ENST00000360442.3_Frame_Shift_Ins_p.IP239fs|PAK4_ENST00000599386.1_Frame_Shift_Ins_p.IP86fs|PAK4_ENST00000599470.1_Frame_Shift_Ins_p.IP86fs|PAK4_ENST00000358301.3_Frame_Shift_Ins_p.IP239fs	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	239	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GGCCTGGCCATCCCCCAGTCCT	0.703																																						ENST00000599386.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13						c.(256-258)accfs		p21 protein (Cdc42/Rac)-activated kinase 4																																				SO:0001589	frameshift_variant	0				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39664268_39664269insC	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.721dupC	19.37:g.39664273_39664273dupC	ENSP00000469413:p.Ile239fs		Somatic				PAK4_ENST00000321944.4_Frame_Shift_Ins_p.T149fs|PAK4_ENST00000358301.3_Frame_Shift_Ins_p.T239fs|PAK4_ENST00000599470.1_Frame_Shift_Ins_p.T86fs|PAK4_ENST00000593690.1_Frame_Shift_Ins_p.T239fs|PAK4_ENST00000360442.3_Frame_Shift_Ins_p.T239fs|PAK4_ENST00000435673.2_Frame_Shift_Ins_p.T239fs	p.T86fs	NM_001014835.1	NP_001014835.1	WXS	Illumina GAIIx	Phase_I	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		4	438_439	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		239			Linker.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Frame_Shift_Ins	INS	ENST00000593690.1	37	c.257_258insC	CCDS12528.1																																																																																				0.703	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			19	17						19	17	---	---	---	---	C	39664269	-	C	39664268	7	5	21	1	0	1	1	0	0	0	0	0	11412	1435	50	0	726	0	PAK4	19	39664268	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	1608044	39664268	19464715	771	2196										
SUPT5H	6829	broad.mit.edu	37	chr19	39963560	39963560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccgtgcgcatctcccaggggCcctacaaaggtgacctgcga	12	15	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:39963560C>T	ENST00000599117.1	+	23	2513	c.2146C>T	c.(2146-2148)Ccc>Tcc	p.P716S	SUPT5H_ENST00000432763.2_Missense_Mutation_p.P716S|SUPT5H_ENST00000359191.6_Missense_Mutation_p.P712S|SUPT5H_ENST00000598725.1_Missense_Mutation_p.P716S|SUPT5H_ENST00000402194.2_Missense_Mutation_p.P712S			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	716	KOW 5.				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)			CTCCCAGGGGCCCTACAAAGG	0.682																																						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.(2146-2148)Ccc>Tcc		suppressor of Ty 5 homolog (S. cerevisiae)							40	41	40					19																	39963560		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.chr19:39963560C>T	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2146C>T	19.37:g.39963560C>T	ENSP00000470252:p.Pro716Ser		Somatic				SUPT5H_ENST00000402194.2_Missense_Mutation_p.P712S|SUPT5H_ENST00000432763.2_Missense_Mutation_p.P716S|SUPT5H_ENST00000598725.1_Missense_Mutation_p.P716S|SUPT5H_ENST00000359191.6_Missense_Mutation_p.P712S	p.P716S			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)		23	2513	+	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)		716			KOW 5.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.2146C>T	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085725	0.76642	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.59	4.59	0.56863	KOW (2);	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	L	0.53249	1.67	0.80722	D	1	P;D;P;P	0.89917	0.744;1.0;0.812;0.844	P;D;P;P	0.73708	0.644;0.981;0.607;0.728	T	0.74016	-0.3800	8	.	.	.	-16.8993	16.1699	0.81801	0.0:1.0:0.0:0.0	.	694;508;712;716	B4DZJ7;B4DJK4;O00267-2;O00267	.;.;.;SPT5H_HUMAN	S	716;712;694;716	.	.	P	+	1	0	SUPT5H	44655400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.623000	0.67757	2.093000	0.63338	0.557000	0.71058	CCC		0.682	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		23	41	0	0	0	1	0	23	41					T	39963560	C	T	39963560	3	4	21	1	0	0	0	0	1	0	0	0	15414	739	26	3	2228	3	SUPT5H	19	39963560	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	299292	39963560	19165423	772	2197										
DYRK1B	9149	broad.mit.edu	37	chr19	40316673	40316673	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaggcaggggcttgatgtgtCttgtggggcacatcaccccc	15	11	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:40316673C>T	ENST00000593685.1	-	11	2040	c.1572G>A	c.(1570-1572)aaG>aaA	p.K524K	DYRK1B_ENST00000430012.2_Silent_p.K484K|DYRK1B_ENST00000348817.3_Silent_p.K496K|DYRK1B_ENST00000597639.1_Silent_p.K496K|DYRK1B_ENST00000323039.5_Silent_p.K524K			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	524					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)			CTTGATGTGTCTTGTGGGGCA	0.642																																						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.(1570-1572)aaG>aaA		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							14	19	17					19																	40316673		2178	4267	6445	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316673C>T	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.1572G>A	19.37:g.40316673C>T			Somatic				DYRK1B_ENST00000430012.2_Silent_p.K484K|DYRK1B_ENST00000597639.1_Silent_p.K496K|DYRK1B_ENST00000348817.3_Silent_p.K496K|DYRK1B_ENST00000323039.5_Silent_p.K524K	p.K524K			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)		11	2040	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		524					O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.1572G>A	CCDS12543.1																																																																																				0.642	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		29	51	0	0	0	1	0	29	51					T	40316673	C	T	40316673	2	4	21	1	0	0	0	0	0	0	0	1	4857	912	32	3		3	DYRK1B	19	40316673	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	353113	40316673	18812310	773	2198										
FBL	2091	broad.mit.edu	37	chr19	40331278	40331278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acctcttcctcctcctccacCgccgccgccgcctccacctc	4	26	1	0	rs139541583		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:40331278C>T	ENST00000221801.3	-	2	273	c.160G>A	c.(160-162)Ggt>Agt	p.G54S	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	54	DMA/Gly-rich.				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)		cctcctccaccgccgccgccg	0.662																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(160-162)Ggt>Agt		fibrillarin		C	SER/GLY	2,4398		0,2,2198	18	21	20		160	0.5	0	19	dbSNP_134	20	3,8595		0,3,4296	yes	missense	FBL	NM_001436.3	56	0,5,6494	TT,TC,CC		0.0349,0.0455,0.0385	probably-damaging	54/322	40331278	5,12993	2200	4299	6499	SO:0001583	missense	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40331278C>T	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.160G>A	19.37:g.40331278C>T	ENSP00000221801:p.Gly54Ser		Somatic					p.G54S	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)	2	273	-	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)	54			DMA/Gly-rich.		B5BUE8|O75259|Q6IAT5|Q9UPI6	Missense_Mutation	SNP	ENST00000221801.3	37	c.160G>A	CCDS12545.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.605124	0.28623	4.55E-4	3.49E-4	ENSG00000105202	ENST00000221801	D	0.83419	-1.72	0.483	0.483	0.16820	.	0.718572	0.11327	N	0.575468	T	0.75686	0.3883	N	0.08118	0	0.09310	N	0.999996	D;D	0.67145	0.996;0.996	P;P	0.59703	0.862;0.862	T	0.65409	-0.6175	9	0.33141	T	0.24	.	.	.	.	.	54;54	B4DLD4;P22087	.;FBRL_HUMAN	S	54	ENSP00000221801:G54S	ENSP00000221801:G54S	G	-	1	0	FBL	45023118	0.098000	0.21812	0.004000	0.12327	0.080000	0.17528	2.099000	0.41767	0.502000	0.28037	0.505000	0.49811	GGT		0.662	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		17	17	0	0	0	1	0	17	17					T	40331278	C	T	40331278	3	4	21	1	0	0	0	0	1	0	0	0	5704	652	23	1	837	1	FBL	19	40331278	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	14605	40331278	18797705	774	2199										
SPTBN4	57731	broad.mit.edu	37	chr19	41000844	41000844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agaatttcaccaccagctggCgggatggcttggccttcaat	11	11	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:41000844C>T	ENST00000352632.3	+	6	714	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	SPTBN4_ENST00000344104.3_Missense_Mutation_p.R210W|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R210W|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R210W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R210W			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	210	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCAGCTGGCGGGATGGCTT	0.582																																						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.(628-630)Cgg>Tgg		spectrin, beta, non-erythrocytic 4							115	94	101					19																	41000844		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.chr19:41000844C>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.628C>T	19.37:g.41000844C>T	ENSP00000263373:p.Arg210Trp		Somatic				SPTBN4_ENST00000595535.1_Missense_Mutation_p.R210W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R210W|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R210W|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R210W	p.R210W			WXS	Illumina GAIIx	Phase_I	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		6	714	+			210			Actin-binding.|CH 2.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.628C>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	c	16.44	3.123740	0.56613	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	D;D;D	0.95554	-3.74;-3.74;-3.74	4.16	-1.53	0.08611	Calponin homology domain (5);	1811.780000	0.00919	U	0.002577	D	0.98554	0.9517	H	0.96576	3.845	0.80722	D	1	D;D	0.89917	1.0;0.998	P;D	0.64776	0.892;0.929	D	0.91127	0.4934	10	0.87932	D	0	.	13.92	0.63926	0.6835:0.3165:0.0:0.0	.	210;210	Q9H254;Q71S06	SPTN4_HUMAN;.	W	210	ENSP00000263373:R210W;ENSP00000340345:R210W;ENSP00000340741:R210W	ENSP00000340345:R210W	R	+	1	2	SPTBN4	45692684	1.000000	0.71417	0.991000	0.47740	0.560000	0.35617	2.245000	0.43133	-0.317000	0.08677	-0.343000	0.07986	CGG		0.582	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			20	36	0	0	0	1	0	20	36					T	41000844	C	T	41000844	3	4	21	1	0	0	0	0	1	0	0	0	15136	759	27	1	646	1	SPTBN4	19	41000844	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	669566	41000844	18128139	775	2200										
DMRTC2	63946	broad.mit.edu	37	chr19	42351810	42351810	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctccccacttttagggagcgCcgcagggtcatggctgccca	12	15	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:42351810C>T	ENST00000269945.3	+	3	282	c.231C>T	c.(229-231)cgC>cgT	p.R77R	DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Silent_p.R77R	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	77					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						TTAGGGAGCGCCGCAGGGTCA	0.602																																						ENST00000269945.3																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(229-231)cgC>cgT		DMRT-like family C2							37	35	36					19																	42351810		2203	4300	6503	SO:0001819	synonymous_variant	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42351810C>T	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.231C>T	19.37:g.42351810C>T			Somatic				DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Silent_p.R77R	p.R77R	NM_001040283.1	NP_001035373.1	WXS	Illumina GAIIx	Phase_I	Q8IXT2	DMRTD_HUMAN			3	282	+			77					Q8N6Q2|Q96M39|Q96SD4	Silent	SNP	ENST00000269945.3	37	c.231C>T	CCDS33034.1																																																																																				0.602	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		13	26	0	0	0	1	0	13	26					T	42351810	C	T	42351810	2	4	21	1	0	0	0	0	0	0	0	1	4593	726	26	3		3	DMRTC2	19	42351810	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1350966	42351810	16777173	776	2201										
XRCC1	7515	broad.mit.edu	37	chr19	44057626	44057626	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttggcgctctcatcctcctcCttcacacggaactggccaag	8	16	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:44057626C>A	ENST00000262887.5	-	6	1075	c.528G>T	c.(526-528)aaG>aaT	p.K176N	XRCC1_ENST00000543982.1_Missense_Mutation_p.K145N|L34079.3_ENST00000597119.1_RNA			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	176					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)				CATCCTCCTCCTTCACACGGA	0.597								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.(526-528)aaG>aaT	Other BER factors	X-ray repair complementing defective repair in Chinese hamster cells 1							95	87	90					19																	44057626		2203	4300	6503	SO:0001583	missense	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44057626C>A	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.528G>T	19.37:g.44057626C>A	ENSP00000262887:p.Lys176Asn		Somatic				XRCC1_ENST00000543982.1_Missense_Mutation_p.K145N|L34079.3_ENST00000597119.1_RNA	p.K176N			WXS	Illumina GAIIx	Phase_I	P18887	XRCC1_HUMAN			6	1075	-		Prostate(69;0.0153)	176					Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	c.528G>T	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676244	0.67928	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	T;T	0.03272	4.0;3.99	4.73	2.59	0.31030	.	0.000000	0.85682	D	0.000000	T	0.12817	0.0311	M	0.72894	2.215	0.58432	D	0.99999	D;P	0.76494	0.999;0.925	D;B	0.78314	0.991;0.446	T	0.02450	-1.1157	10	0.32370	T	0.25	-26.7247	8.7709	0.34731	0.0:0.8044:0.0:0.1956	.	145;176	F5H8D7;P18887	.;XRCC1_HUMAN	N	190;176;145;176	ENSP00000262887:K176N;ENSP00000443671:K145N	ENSP00000262887:K176N	K	-	3	2	XRCC1	48749466	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	0.988000	0.29616	0.664000	0.31047	0.655000	0.94253	AAG		0.597	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297		42	55	1	0	3.54561e-26	1	3.96114e-26	42	55					A	44057626	C	A	44057626	3	1	21	1	0	0	0	0	1	0	0	0	17467	680	24	5	1421	5	XRCC1	19	44057626	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1705816	44057626	15071357	777	2202										
BCL3	602	broad.mit.edu	37	chr19	45260667	45260667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agcgcggtgccgacatcgacGcagtggtgagcgtgcactag	16	11	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:45260667G>A	ENST00000164227.5	+	5	1052	c.808G>A	c.(808-810)Gca>Aca	p.A270T		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	270					antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CGACATCGACGCAGTGGTGAG	0.692			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		0				kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(808-810)Gca>Aca		B-cell CLL/lymphoma 3							19	15	16					19																	45260667		2199	4296	6495	SO:0001583	missense	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.chr19:45260667G>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.808G>A	19.37:g.45260667G>A	ENSP00000164227:p.Ala270Thr		Somatic					p.A270T	NM_005178.4	NP_005169.2	WXS	Illumina GAIIx	Phase_I	P20749	BCL3_HUMAN			5	1052	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	270						Missense_Mutation	SNP	ENST00000164227.5	37	c.808G>A	CCDS12642.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.65|17.65	3.442809|3.442809	0.63067|0.63067	.|.	.|.	ENSG00000069399|ENSG00000069399	ENST00000403534;ENST00000164227|ENST00000444487	T|.	0.66995|.	-0.24|.	4.71|4.71	3.65|3.65	0.41850|0.41850	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.47852|.	D|.	0.000201|.	T|T	0.55289|0.55289	0.1911|0.1911	L|L	0.42744|0.42744	1.35|1.35	0.37880|0.37880	D|D	0.930366|0.930366	D|.	0.76494|.	0.999|.	P|.	0.55260|.	0.772|.	T|T	0.55283|0.55283	-0.8165|-0.8165	10|5	0.56958|.	D|.	0.05|.	-16.8585|-16.8585	10.1693|10.1693	0.42900|0.42900	0.0:0.0:0.8007:0.1993|0.0:0.0:0.8007:0.1993	.|.	270|.	P20749|.	BCL3_HUMAN|.	T|H	230;270|153	ENSP00000164227:A270T|.	ENSP00000164227:A270T|.	A|R	+|+	1|2	0|0	BCL3|BCL3	49952507|49952507	0.929000|0.929000	0.31497|0.31497	0.989000|0.989000	0.46669|0.46669	0.355000|0.355000	0.29361|0.29361	4.208000|4.208000	0.58486|0.58486	0.957000|0.957000	0.37930|0.37930	0.305000|0.305000	0.20034|0.20034	GCA|CGC		0.692	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		3	8	0	0	0	1	0	3	8					A	45260667	G	A	45260667	3	1	21	1	0	0	0	0	1	0	0	0	1375	1087	38	1	826	1	BCL3	19	45260667	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1203041	45260667	13868316	778	2203										
NKPD1	284353	broad.mit.edu	37	chr19	45655971	45655971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tccccgcctgcgcctgcaccGccagcagctgcgcgctctcg	11	21	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:45655971G>A	ENST00000438936.2	-	3	1269	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	NKPD1_ENST00000589776.1_Missense_Mutation_p.A353V|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000317951.4_Missense_Mutation_p.A575V|NKPD1_ENST00000429338.1_Missense_Mutation_p.A353V			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	353	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CGCCTGCACCGCCAGCAGCTG	0.741																																						ENST00000317951.4																			0				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8						c.(1723-1725)gCg>gTg		NTPase, KAP family P-loop domain containing 1							4	5	5					19																	45655971		1805	3805	5610	SO:0001583	missense	284353							g.chr19:45655971G>A	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1058C>T	19.37:g.45655971G>A	ENSP00000401739:p.Ala353Val		Somatic				NKPD1_ENST00000589776.1_Missense_Mutation_p.A353V|NKPD1_ENST00000429338.1_Missense_Mutation_p.A353V|NKPD1_ENST00000438936.2_Missense_Mutation_p.A353V	p.A575V	NM_198478.3	NP_940880.3	WXS	Illumina GAIIx	Phase_I				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	1723	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	ENST00000438936.2	37	c.1724C>T		.	.	.	.	.	.	.	.	.	.	G	11.99	1.803312	0.31869	.	.	ENSG00000179846	ENST00000317951;ENST00000438936;ENST00000429338	T;T;T	0.46063	0.88;0.9;0.92	5.4	-1.43	0.08884	KAP P-loop (1);	0.877101	0.09938	N	0.736283	T	0.25195	0.0612	N	0.22421	0.69	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.25328	-1.0135	10	0.27785	T	0.31	-15.7388	8.1038	0.30874	0.0:0.3341:0.2311:0.4348	.	353	Q17RQ9	NKPD1_HUMAN	V	575;353;353	ENSP00000321976:A575V;ENSP00000401739:A353V;ENSP00000404706:A353V	ENSP00000321976:A575V	A	-	2	0	NKPD1	50347811	0.000000	0.05858	0.825000	0.32803	0.886000	0.51366	-1.059000	0.03479	0.236000	0.21180	0.462000	0.41574	GCG		0.741	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2	NM_198478		5	8	0	0	0	1	0	5	8					A	45655971	G	A	45655971	3	1	21	1	0	0	0	0	1	0	0	0	10455	1087	38	1	778	1	NKPD1	19	45655971	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	395304	45655971	13473012	779	2204										
DMPK	1760	broad.mit.edu	37	chr19	46283185	46283185	+	Intron	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agaaagggcactggagacaaGggggaaagccccaccctctg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:46283185delG	ENST00000291270.4	-	2	286				DMPK_ENST00000600757.1_Frame_Shift_Del_p.L45fs|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000458663.2_Intron|DMPK_ENST00000354227.5_Intron|DMPK_ENST00000447742.2_Intron|DMPK_ENST00000343373.4_Frame_Shift_Del_p.L45fs|AC011530.4_ENST00000593999.1_Intron	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase						cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CTGGAGACAAGGGGGAAAGCC	0.612																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(133-135)ttfs		dystrophia myotonica-protein kinase							73	81	78					19																	46283185		1327	2309	3636	SO:0001627	intron_variant	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46283185delG	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.161-58C>-	19.37:g.46283185delG			Somatic				DMPK_ENST00000291270.4_Intron|DMPK_ENST00000458663.2_Intron|DMPK_ENST00000447742.2_Intron|DMPK_ENST00000354227.5_Intron|AC011530.4_ENST00000593999.1_Intron|DMPK_ENST00000343373.4_Frame_Shift_Del_p.L45fs	p.L45fs			WXS	Illumina GAIIx	Phase_I	Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	1	820	-		Ovarian(192;0.0308)|all_neural(266;0.112)	45					E5KR08|Q16205|Q6P5Z6	Frame_Shift_Del	DEL	ENST00000291270.4	37	c.133delC	CCDS12674.1																																																																																				0.612	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		14	24						14	24	---	---	---	---	-	46283185	G	-	46283185	6	5	21	0	1	1	0	1	0	0	0	0	4586	1000	35	0		0	DMPK	19	46283185	Intron	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	627214	46283185	12845798	780	2205										
HIF3A	64344	broad.mit.edu	37	chr19	46815488	46815488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cctacgagtacatccacgcgCtggactccgatgcggtcagc	11	15	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:46815488C>T	ENST00000377670.4	+	7	872	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L	HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000600383.1_Silent_p.L212L|HIF3A_ENST00000300862.3_Silent_p.L279L|HIF3A_ENST00000244303.6_Silent_p.L212L|HIF3A_ENST00000472815.1_Silent_p.L212L|HIF3A_ENST00000420102.2_Silent_p.L230L|HIF3A_ENST00000339613.2_Silent_p.L225L	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	281	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CATCCACGCGCTGGACTCCGA	0.612																																						ENST00000339613.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(673-675)Ctg>Ttg		hypoxia inducible factor 3, alpha subunit							132	118	123					19																	46815488		2203	4300	6503	SO:0001819	synonymous_variant	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46815488C>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.841C>T	19.37:g.46815488C>T			Somatic				HIF3A_ENST00000300862.3_Silent_p.L279L|HIF3A_ENST00000244303.6_Silent_p.L212L|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000420102.2_Silent_p.L230L|HIF3A_ENST00000600383.1_Silent_p.L212L|HIF3A_ENST00000472815.1_Silent_p.L212L|HIF3A_ENST00000377670.4_Silent_p.L281L	p.L225L			WXS	Illumina GAIIx	Phase_I	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	7	928	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	281					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Silent	SNP	ENST00000377670.4	37	c.673C>T	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	5.378	0.254994	0.10185	.	.	ENSG00000124440	ENST00000472815	.	.	.	4.11	1.97	0.26223	.	.	.	.	.	T	0.59528	0.2200	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60777	-0.7196	5	0.72032	D	0.01	.	4.975	0.14136	0.0:0.6355:0.0:0.3645	.	.	.	.	V	253	.	ENSP00000434653:A253V	A	+	2	0	HIF3A	51507328	0.839000	0.29477	0.910000	0.35882	0.472000	0.32918	1.585000	0.36600	1.041000	0.40125	0.591000	0.81541	GCT		0.612	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			58	86	0	0	0	1	0	58	86					T	46815488	C	T	46815488	2	4	21	1	0	0	0	0	0	0	0	1	7114	796	28	3		3	HIF3A	19	46815488	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	532303	46815488	12313495	781	2206										
FKRP	79147	broad.mit.edu	37	chr19	47260141	47260141	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aagttcgggcccggggtcatCgagaacccccagtaccccaa	11	15	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:47260141C>T	ENST00000318584.5	+	4	1731	c.1434C>T	c.(1432-1434)atC>atT	p.I478I	FKRP_ENST00000391909.3_Silent_p.I478I|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	478					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CCGGGGTCATCGAGAACCCCC	0.637																																						ENST00000318584.5																			0				NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1432-1434)atC>atT		fukutin related protein							14	15	14					19																	47260141		2195	4287	6482	SO:0001819	synonymous_variant	79147					extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity	g.chr19:47260141C>T	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.1434C>T	19.37:g.47260141C>T			Somatic				FKRP_ENST00000391909.3_Silent_p.I478I|FKRP_ENST00000600646.1_Intron	p.I478I	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	WXS	Illumina GAIIx	Phase_I	Q9H9S5	FKRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	4	1731	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	478					A8K5G7	Silent	SNP	ENST00000318584.5	37	c.1434C>T	CCDS12691.1																																																																																				0.637	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		9	11	0	0	0	1	0	9	11					T	47260141	C	T	47260141	2	4	21	1	0	0	0	0	0	0	0	1	5925	874	31	1		1	FKRP	19	47260141	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	444653	47260141	11868842	782	2207										
ARHGAP35	2909	broad.mit.edu	37	chr19	47424741	47424741	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aacttgagatctttcacccaTtttttaaagatgtggtggaa							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:47424741delT	ENST00000404338.3	+	1	2809	c.2809delT	c.(2809-2811)tttfs	p.F938fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	938					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CTTTCACCCATTTTTTAAAGA	0.453																																						ENST00000404338.3																			0											c.(2809-2811)ttfs		Rho GTPase activating protein 35							102	102	102					19																	47424741		1876	4106	5982	SO:0001589	frameshift_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424741delT	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2809delT	19.37:g.47424741delT	ENSP00000385720:p.Phe938fs		Somatic					p.F938fs	NM_004491.4	NP_004482.4	WXS	Illumina GAIIx	Phase_I	Q9NRY4	RHG35_HUMAN			1	2809	+			938					A7E2A4|Q14452|Q9C0E1	Frame_Shift_Del	DEL	ENST00000404338.3	37	c.2809delT	CCDS46127.1																																																																																				0.453	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		77	118						77	118	---	---	---	---	-	47424741	T	-	47424741	7	5	21	1	0	1	0	1	0	0	0	0	6804	1493	52	0	2811	0	ARHGAP35	19	47424741	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	164600	47424741	11704242	783	2208										
DHX34	9704	broad.mit.edu	37	chr19	47856557	47856557	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggacagcccaagcacagcatCccagcgctggccgacctacc	10	18	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:47856557C>A	ENST00000328771.4	+	2	619	c.270C>A	c.(268-270)atC>atA	p.I90I		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	90					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)		AGCACAGCATCCCAGCGCTGG	0.587																																						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.(268-270)atC>atA		DEAH (Asp-Glu-Ala-His) box polypeptide 34							111	109	109					19																	47856557		2203	4300	6503	SO:0001819	synonymous_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47856557C>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.270C>A	19.37:g.47856557C>A			Somatic					p.I90I	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	619	+		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)	90					B4DMY8	Silent	SNP	ENST00000328771.4	37	c.270C>A	CCDS12700.1																																																																																				0.587	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		54	105	1	0	6.176e-18	1	6.71171e-18	54	105					A	47856557	C	A	47856557	2	1	21	1	0	0	0	0	0	0	0	1	4509	845	30	2		2	DHX34	19	47856557	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	431816	47856557	11272426	784	2209										
TMEM143	55260	broad.mit.edu	37	chr19	48848477	48848477	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gccagggtgtcctcagacagCggggagaagttggcctgggc	18	10	1	2	rs200070999		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:48848477C>T	ENST00000293261.3	-	4	820	c.504G>A	c.(502-504)ccG>ccA	p.P168P	TMEM143_ENST00000435956.3_Silent_p.P133P|TMEM143_ENST00000436660.2_Intron|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000541566.1_Silent_p.P58P	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	168					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)		CCTCAGACAGCGGGGAGAAGT	0.622													C|||	1	0.000199681	0	0.0014	5008	,	,		13931	0		0	False		,,,				2504	0					ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(502-504)ccG>ccA		transmembrane protein 143		C		0,4406		0,0,2203	94	91	92		504	-8.6	0	19		92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM143	NM_018273.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		168/460	48848477	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55260					integral to membrane|mitochondrion		g.chr19:48848477C>T	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.504G>A	19.37:g.48848477C>T			Somatic				TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000435956.3_Silent_p.P133P|TMEM143_ENST00000436660.2_Intron|TMEM143_ENST00000541566.1_Silent_p.P58P	p.P168P	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)	4	820	-		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)	168					A8K656|Q6UXY4|Q9NV49	Silent	SNP	ENST00000293261.3	37	c.504G>A	CCDS12716.1																																																																																				0.622	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		67	96	0	0	0	1	0	67	96					T	48848477	C	T	48848477	2	4	21	1	0	0	0	0	0	0	0	1	16072	755	27	1		1	TMEM143	19	48848477	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	991920	48848477	10280506	785	2210										
RASIP1	54922	broad.mit.edu	37	chr19	49232773	49232773	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tccacatagggagccggggaCcccccgcggccagacgagtt					rs370372473		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:49232773delC	ENST00000222145.4	-	5	1458	c.1254delG	c.(1252-1254)gggfs	p.G418fs	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	418					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		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;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GAGCCGGGGACCCCCCGCGGC	0.657																																						ENST00000222145.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21						c.(1252-1254)ggfs		Ras interacting protein 1							15	14	14					19																	49232773		2186	4285	6471	SO:0001589	frameshift_variant	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49232773delC	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1254delG	19.37:g.49232773delC	ENSP00000222145:p.Gly418fs		Somatic					p.G418fs	NM_017805.2	NP_060275.2	WXS	Illumina GAIIx	Phase_I	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	5	1458	-		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)	418					Q6U676	Frame_Shift_Del	DEL	ENST00000222145.4	37	c.1254delG	CCDS12731.1																																																																																				0.657	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		9	6						9	6	---	---	---	---	-	49232773	C	-	49232773	7	5	21	1	0	1	0	1	0	0	0	0	13093	494	18	0	1669	0	RASIP1	19	49232773	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	384296	49232773	9896210	786	2211										
CD37	951	broad.mit.edu	37	chr19	49841230	49841230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agaaaaccatccaaaagtacGgcaccaaccccgaggagacc	8	14	0	2	rs147415665		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:49841230G>A	ENST00000323906.4	+	5	532	c.391G>A	c.(391-393)Ggc>Agc	p.G131S	CD37_ENST00000535669.2_Missense_Mutation_p.G131S|CD37_ENST00000596426.1_3'UTR|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000426897.2_Missense_Mutation_p.G63S|CD37_ENST00000598095.1_Missense_Mutation_p.G63S	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	131					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)		CCAAAAGTACGGCACCAACCC	0.642																																						ENST00000535669.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11						c.(391-393)Ggc>Agc		CD37 molecule							112	101	105					19																	49841230		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr19:49841230G>A		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.391G>A	19.37:g.49841230G>A	ENSP00000325708:p.Gly131Ser		Somatic				CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000598095.1_Missense_Mutation_p.G63S|CD37_ENST00000323906.4_Missense_Mutation_p.G131S|CD37_ENST00000426897.2_Missense_Mutation_p.G63S|CD37_ENST00000596426.1_3'UTR	p.G131S			WXS	Illumina GAIIx	Phase_I	P11049	CD37_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)	5	505	+		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	131					B4DVC1|Q3KPF9	Missense_Mutation	SNP	ENST00000323906.4	37	c.391G>A	CCDS12760.1	.	.	.	.	.	.	.	.	.	.	g	5.912	0.352321	0.11182	.	.	ENSG00000104894	ENST00000323906;ENST00000426897;ENST00000535669	T;T;T	0.78595	-1.19;-1.19;-1.19	3.69	0.0683	0.14369	Tetraspanin, EC2 domain (1);	0.913828	0.09217	N	0.832386	T	0.59018	0.2163	N	0.12961	0.28	0.09310	N	1	B;P;P;P	0.40794	0.045;0.729;0.729;0.727	B;B;B;B	0.38562	0.053;0.195;0.195;0.276	T	0.40440	-0.9563	10	0.09084	T	0.74	.	12.1629	0.54113	0.0:0.6707:0.3293:0.0	.	63;131;131;131	B4DVC1;B7ZAN3;B4DW15;P11049	.;.;.;CD37_HUMAN	S	131;63;131	ENSP00000325708:G131S;ENSP00000413151:G63S;ENSP00000441037:G131S	ENSP00000325708:G131S	G	+	1	0	CD37	54533042	0.044000	0.20184	0.111000	0.21465	0.007000	0.05969	0.003000	0.13083	-0.088000	0.12506	-1.988000	0.00451	GGC		0.642	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1			22	33	0	0	0	1	0	22	33					A	49841230	G	A	49841230	3	1	21	1	0	0	0	0	1	0	0	0	3010	1116	39	1	409	1	CD37	19	49841230	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	608457	49841230	9287753	787	2212										
TEAD2	8463	broad.mit.edu	37	chr19	49845739	49845739	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gacgctgttcatcatgtatcGctcaggcagctgccgcaact	10	13	3	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:49845739G>A	ENST00000311227.2	-	11	1276	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	TEAD2_ENST00000598810.1_Nonsense_Mutation_p.R400*|TEAD2_ENST00000539846.1_Nonsense_Mutation_p.R268*|TEAD2_ENST00000601519.1_Nonsense_Mutation_p.R399*|CTC-301O7.4_ENST00000358234.4_lincRNA|TEAD2_ENST00000593945.1_Nonsense_Mutation_p.R400*|TEAD2_ENST00000377214.4_Nonsense_Mutation_p.R399*	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	396	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		ATCATGTATCGCTCAGGCAGC	0.602																																						ENST00000377214.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29						c.(1195-1197)Cga>Tga		TEA domain family member 2							69	64	66					19																	49845739		2203	4300	6503	SO:0001587	stop_gained	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49845739G>A	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.1186C>T	19.37:g.49845739G>A	ENSP00000310701:p.Arg396*		Somatic				TEAD2_ENST00000598810.1_Nonsense_Mutation_p.R400*|TEAD2_ENST00000539846.1_Nonsense_Mutation_p.R268*|TEAD2_ENST00000593945.1_Nonsense_Mutation_p.R400*|TEAD2_ENST00000601519.1_Nonsense_Mutation_p.R399*|TEAD2_ENST00000311227.2_Nonsense_Mutation_p.R396*	p.R399*			WXS	Illumina GAIIx	Phase_I	Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	10	1557	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	396			Transcriptional activation (Potential).		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Nonsense_Mutation	SNP	ENST00000311227.2	37	c.1195C>T	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097944	0.94197	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	.	.	.	3.9	1.73	0.24493	.	0.425959	0.20389	N	0.093297	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-17.671	4.0671	0.09866	0.208:0.0:0.6078:0.1843	.	.	.	.	X	396;399;268	.	ENSP00000310701:R396X	R	-	1	2	TEAD2	54537551	1.000000	0.71417	0.992000	0.48379	0.919000	0.55068	4.715000	0.61909	0.406000	0.25560	-0.888000	0.02935	CGA		0.602	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		41	54	0	0	0	1	0	41	54					A	49845739	G	A	49845739	4	1	21	1	0	0	0	0	0	1	0	0	15754	1095	38	1	165	1	TEAD2	19	49845739	Nonsense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	4509	49845739	9283244	788	2213										
FLT3LG	2323	broad.mit.edu	37	chr19	49982287	49982287	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaacttctcccggtgcctggAgctgcagtgtcagcccggta	13	13	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:49982287A>T	ENST00000594009.1	+	5	543	c.464A>T	c.(463-465)gAg>gTg	p.E155V	FLT3LG_ENST00000596435.1_Missense_Mutation_p.E137V|FLT3LG_ENST00000597551.1_Missense_Mutation_p.E155V|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000204637.2_Missense_Mutation_p.E73V|FLT3LG_ENST00000344019.3_Missense_Mutation_p.E155V|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000600429.1_Missense_Mutation_p.E155V|FLT3LG_ENST00000595510.1_Missense_Mutation_p.E73V	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	155					embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CGGTGCCTGGAGCTGCAGTGT	0.647																																						ENST00000595510.1																			0				large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(217-219)gAg>gTg		fms-related tyrosine kinase 3 ligand							20	20	20					19																	49982287		2203	4299	6502	SO:0001583	missense	0				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49982287A>T	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"Endogenous ligands"	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.464A>T	19.37:g.49982287A>T	ENSP00000469613:p.Glu155Val		Somatic				CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000204637.2_Missense_Mutation_p.E73V|FLT3LG_ENST00000600429.1_Missense_Mutation_p.E155V|FLT3LG_ENST00000344019.3_Missense_Mutation_p.E155V|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000596435.1_Missense_Mutation_p.E137V|FLT3LG_ENST00000597551.1_Missense_Mutation_p.E155V|FLT3LG_ENST00000594009.1_Missense_Mutation_p.E155V	p.E73V			WXS	Illumina GAIIx	Phase_I	P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	5	519	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	155					A0AVC2|B9EGH2|Q05C96	Missense_Mutation	SNP	ENST00000594009.1	37	c.218A>T	CCDS12767.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.689284	0.48097	.	.	ENSG00000090554	ENST00000204637;ENST00000344019	.	.	.	4.5	3.46	0.39613	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.134846	0.47852	U	0.000209	T	0.45816	0.1361	L	0.29908	0.895	0.31704	N	0.640414	D	0.76494	0.999	D	0.68943	0.961	T	0.52102	-0.8620	9	0.72032	D	0.01	-11.0888	7.077	0.25209	0.8868:0.0:0.1132:0.0	.	155	P49771	FLT3L_HUMAN	V	155	.	ENSP00000204637:E155V	E	+	2	0	FLT3LG	54674099	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	2.824000	0.48088	1.777000	0.52277	0.147000	0.16070	GAG		0.647	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1			8	11	0	0	0	1	0	8	11					T	49982287	A	T	49982287	3	4	21	1	0	0	0	0	1	0	0	0	5951	304	11	4	482	4	FLT3LG	19	49982287	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	136548	49982287	9146696	789	2214										
TBC1D17	79735	broad.mit.edu	37	chr19	50381767	50381767	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	taccctaggacaatgacgtcCtcctgcactgggctcctgta	9	14	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:50381767C>A	ENST00000221543.5	+	3	432	c.133C>A	c.(133-135)Ctc>Atc	p.L45I	AKT1S1_ENST00000391834.2_5'Flank|AKT1S1_ENST00000482622.1_5'Flank|AKT1S1_ENST00000391831.1_5'Flank|TBC1D17_ENST00000598789.1_3'UTR|AKT1S1_ENST00000391835.1_5'Flank|TBC1D17_ENST00000535102.2_Missense_Mutation_p.L12I|AKT1S1_ENST00000391832.3_5'Flank|AKT1S1_ENST00000344175.5_5'Flank	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	45					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)		CAATGACGTCCTCCTGCACTG	0.537																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(133-135)Ctc>Atc		TBC1 domain family, member 17							91	87	89					19																	50381767		2203	4300	6503	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50381767C>A	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.133C>A	19.37:g.50381767C>A	ENSP00000221543:p.Leu45Ile		Somatic				TBC1D17_ENST00000598789.1_3'UTR|TBC1D17_ENST00000535102.2_Missense_Mutation_p.L12I	p.L45I	NM_024682.2	NP_078958.2	WXS	Illumina GAIIx	Phase_I	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	3	432	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	45					B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.133C>A	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	C	5.414	0.261511	0.10239	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.28895	1.59;1.59	5.82	-1.06	0.10002	Domain of unknown function DUF3548 (1);	0.433182	0.25183	N	0.032503	T	0.10121	0.0248	N	0.10685	0.025	0.21933	N	0.999466	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.19976	-1.0289	10	0.15066	T	0.55	-15.933	2.5758	0.04806	0.2624:0.4641:0.1172:0.1563	.	12;45	F5H1W7;Q9HA65	.;TBC17_HUMAN	I	45;12	ENSP00000221543:L45I;ENSP00000446323:L12I	ENSP00000221543:L45I	L	+	1	0	TBC1D17	55073579	0.000000	0.05858	0.793000	0.32043	0.887000	0.51463	-1.610000	0.02064	0.073000	0.16731	0.561000	0.74099	CTC		0.537	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		36	36	1	0	6.1244e-12	1	6.52625e-12	36	36					A	50381767	C	A	50381767	3	1	21	1	0	0	0	0	1	0	0	0	15621	681	24	5	143	5	TBC1D17	19	50381767	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	399480	50381767	8747216	790	2215										
IL4I1	259307	broad.mit.edu	37	chr19	50393104	50393104	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctggccgtgtccgatgcaggCcccttccggctgttgatctt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:50393104delC	ENST00000391826.2	-	8	1669	c.1527delG	c.(1525-1527)gggfs	p.G509fs	IL4I1_ENST00000341114.3_Frame_Shift_Del_p.G531fs|MIR4750_ENST00000584564.1_RNA|IL4I1_ENST00000595948.1_Frame_Shift_Del_p.G531fs	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	509						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	CCGATGCAGGCCCCTTCCGGC	0.687																																						ENST00000595948.1																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1591-1593)ggfs		interleukin 4 induced 1							39	39	39					19																	50393104		2202	4298	6500	SO:0001589	frameshift_variant	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50393104delC	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.1527delG	19.37:g.50393104delC	ENSP00000375702:p.Gly509fs		Somatic				IL4I1_ENST00000391826.2_Frame_Shift_Del_p.G509fs|IL4I1_ENST00000341114.3_Frame_Shift_Del_p.G531fs	p.G531fs	NM_001258018.1	NP_001244947.1	WXS	Illumina GAIIx	Phase_I	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	10	2213	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	509					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Frame_Shift_Del	DEL	ENST00000391826.2	37	c.1593delG	CCDS12787.1																																																																																				0.687	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			31	33						31	33	---	---	---	---	-	50393104	C	-	50393104	7	5	21	1	0	1	0	1	0	0	0	0	7706	726	26	0	180	0	IL4I1	19	50393104	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	11337	50393104	8735879	791	2216										
FAM71E1	112703	broad.mit.edu	37	chr19	50979571	50979571	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggctttatgacgtcacacaaGagcgggctcctgatttgtga	12	9	1	4			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:50979571G>T	ENST00000600100.1	-	1	439	c.75C>A	c.(73-75)ctC>ctA	p.L25L	FAM71E1_ENST00000595790.1_Silent_p.L25L|EMC10_ENST00000598585.1_5'Flank|EMC10_ENST00000334976.6_5'Flank|EMC10_ENST00000376918.3_5'Flank			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	25										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)		CGTCACACAAGAGCGGGCTCC	0.662																																						ENST00000600100.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(73-75)ctC>ctA		family with sequence similarity 71, member E1							38	40	39					19																	50979571		2200	4293	6493	SO:0001819	synonymous_variant	112703							g.chr19:50979571G>T		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.75C>A	19.37:g.50979571G>T			Somatic				FAM71E1_ENST00000595790.1_Silent_p.L25L	p.L25L			WXS	Illumina GAIIx	Phase_I	Q6IPT2	F71E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)	1	439	-		all_neural(266;0.131)	25					Q96EJ5|Q9BSM9	Silent	SNP	ENST00000600100.1	37	c.75C>A																																																																																					0.662	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2			17	28	1	0	3.52763e-06	1	3.63969e-06	17	28					T	50979571	G	T	50979571	2	4	21	1	0	0	0	0	0	0	0	1	5619	929	33	2		2	FAM71E1	19	50979571	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	586467	50979571	8149412	792	2217										
SHANK1	50944	broad.mit.edu	37	chr19	51217078	51217078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gagtgccaggcagtgtcgggCgcatgcggccttatgcagtg	17	10	0	0	rs138468869		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:51217078C>T	ENST00000293441.1	-	5	787	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	SHANK1_ENST00000359082.3_Missense_Mutation_p.A257T|SHANK1_ENST00000391814.1_Missense_Mutation_p.A257T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	257					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)		CAGTGTCGGGCGCATGCGGCC	0.627																																						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.(769-771)Gcc>Acc		SH3 and multiple ankyrin repeat domains 1		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	40	46	44		769	4.5	0.8	19	dbSNP_134	44	0,8600		0,0,4300	no	missense	SHANK1	NM_016148.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	257/2162	51217078	1,13005	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.chr19:51217078C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.769G>A	19.37:g.51217078C>T	ENSP00000293441:p.Ala257Thr		Somatic				SHANK1_ENST00000391814.1_Missense_Mutation_p.A257T|SHANK1_ENST00000359082.3_Missense_Mutation_p.A257T	p.A257T	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)	5	787	-		all_neural(266;0.057)	257					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.769G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953638	0.73902	2.27E-4	0.0	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.65732	-0.17;-0.17;-0.17	4.52	4.52	0.55395	Ankyrin repeat-containing domain (4);	0.219503	0.27319	U	0.019910	T	0.50735	0.1633	N	0.21448	0.665	0.42134	D	0.991483	D	0.55172	0.97	P	0.46208	0.507	T	0.48410	-0.9038	10	0.30078	T	0.28	-7.9998	12.6343	0.56675	0.1665:0.8335:0.0:0.0	.	257	Q9Y566	SHAN1_HUMAN	T	257	ENSP00000293441:A257T;ENSP00000351984:A257T;ENSP00000375690:A257T	ENSP00000293441:A257T	A	-	1	0	SHANK1	55908890	0.438000	0.25602	0.803000	0.32268	0.974000	0.67602	1.021000	0.30040	2.459000	0.83118	0.561000	0.74099	GCC		0.627	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		42	56	0	0	0	1	0	42	56					T	51217078	C	T	51217078	3	4	21	1	0	0	0	0	1	0	0	0	14279	768	27	1	5792	1	SHANK1	19	51217078	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	237507	51217078	7911905	793	2218										
MBOAT7	79143	broad.mit.edu	37	chr19	54684567	54684567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acggggtaggccccaaagccGgcggcaatgcagccgcactc	14	15	0	0	rs370479065		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:54684567G>A	ENST00000245615.1	-	6	1257	c.777C>T	c.(775-777)gcC>gcT	p.A259A	MBOAT7_ENST00000391754.1_Silent_p.A259A|MBOAT7_ENST00000474910.1_5'Flank|MBOAT7_ENST00000431666.2_Silent_p.A186A|MBOAT7_ENST00000338624.6_Silent_p.A186A	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	259					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)					CCCCAAAGCCGGCGGCAATGC	0.711											OREG0003644	type=REGULATORY REGION|Gene=AK123290|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									NSCLC(97;826 2151 10470 22540)	ENST00000245615.1																			0				endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10						c.(775-777)gcC>gcT		membrane bound O-acyltransferase domain containing 7		G	,,,	1,4313		0,1,2156	9	11	10		558,777,558,777	-6.4	0.9	19		10	0,8466		0,0,4233	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MBOAT7	NM_001146056.1,NM_001146082.1,NM_001146083.1,NM_024298.3	,,,	0,1,6389	AA,AG,GG		0.0,0.0232,0.0078	,,,	186/400,259/345,186/400,259/473	54684567	1,12779	2157	4233	6390	SO:0001819	synonymous_variant	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54684567G>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.777C>T	19.37:g.54684567G>A			Somatic	OREG0003644	type=REGULATORY REGION|Gene=AK123290|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1002	MBOAT7_ENST00000338624.6_Silent_p.A186A|MBOAT7_ENST00000391754.1_Silent_p.A259A|MBOAT7_ENST00000431666.2_Silent_p.A186A	p.A259A	NM_024298.3	NP_077274.3	WXS	Illumina GAIIx	Phase_I	Q96N66	MBOA7_HUMAN			6	1257	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		259					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Silent	SNP	ENST00000245615.1	37	c.777C>T	CCDS12883.1																																																																																				0.711	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		6	8	0	0	0	1	0	6	8					A	54684567	G	A	54684567	2	1	21	1	0	0	0	0	0	0	0	1	9367	1103	39	1		1	MBOAT7	19	54684567	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3467489	54684567	4444416	794	2219										
NLRP2	55655	broad.mit.edu	37	chr19	55497518	55497518	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctttcgttctcttttccctaGgttcaaaaacatttccccag	4	13	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:55497518G>T	ENST00000543010.1	+	8	2344		c.e8-1		NLRP2_ENST00000391721.4_Splice_Site|NLRP2_ENST00000339757.7_Splice_Site|NLRP2_ENST00000537859.1_Splice_Site|NLRP2_ENST00000448584.2_Splice_Site|NLRP2_ENST00000263437.6_Splice_Site|NLRP2_ENST00000427260.2_Splice_Site|NLRP2_ENST00000538819.1_Splice_Site	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2						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)		CTTTTCCCTAGGTTCAAAAAC	0.423																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.e8-1		NLR family, pyrin domain containing 2							80	66	71					19																	55497518		2203	4300	6503	SO:0001630	splice_region_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55497518G>T	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.2202-1G>T	19.37:g.55497518G>T			Somatic				NLRP2_ENST00000537859.1_Splice_Site|NLRP2_ENST00000427260.2_Splice_Site|NLRP2_ENST00000339757.7_Splice_Site|NLRP2_ENST00000391721.4_Splice_Site|NLRP2_ENST00000538819.1_Splice_Site|NLRP2_ENST00000263437.6_Splice_Site|NLRP2_ENST00000448584.2_Splice_Site		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)	8	2344	+								B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Splice_Site	SNP	ENST00000543010.1	37		CCDS12913.1	.	.	.	.	.	.	.	.	.	.	g	9.131	1.011330	0.19277	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	.	.	.	2.55	2.55	0.30701	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8176	0.35004	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRP2	60189330	0.195000	0.23338	0.508000	0.27688	0.104000	0.19210	2.269000	0.43346	1.753000	0.51906	0.650000	0.86243	.		0.423	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	Intron	15	27	1	0	1.05317e-09	1	1.1155e-09	15	27					T	55497518	G	T	55497518	5	4	21	1	0	0	0	0	0	0	1	0	10486	1014	35	5	2227	5	NLRP2	19	55497518	Splice_Site	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	812951	55497518	3631465	795	2220										
NLRP9	338321	broad.mit.edu	37	chr19	56249561	56249561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgctttcctgggtaatgtttGtccagcagctttgctacatc	9	10	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:56249561G>A	ENST00000332836.2	-	1	207	c.180C>T	c.(178-180)gaC>gaT	p.D60D	RN7SKP109_ENST00000410592.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	60	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					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)		GGTAATGTTTGTCCAGCAGCT	0.468																																						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.(178-180)gaC>gaT		NLR family, pyrin domain containing 9							400	396	397					19																	56249561		2203	4300	6503	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56249561G>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.180C>T	19.37:g.56249561G>A			Somatic					p.D60D	NM_176820.2	NP_789790.2	WXS	Illumina GAIIx	Phase_I	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	1	207	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	60			DAPIN.		B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.180C>T	CCDS12934.1																																																																																				0.468	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		248	323	0	0	0	1	0	248	323					A	56249561	G	A	56249561	2	1	21	1	0	0	0	0	0	0	0	1	10493	1368	48	3		3	NLRP9	19	56249561	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	752043	56249561	2879422	796	2221										
ZNF671	79891	broad.mit.edu	37	chr19	58232447	58232447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	actcgtatggcctttctccaGtgtgaactgtctggtgttta	10	9	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:58232447G>A	ENST00000317398.6	-	4	1102	c.1007C>T	c.(1006-1008)aCt>aTt	p.T336I	ZNF671_ENST00000594803.1_5'Flank|ZNF671_ENST00000335820.3_Missense_Mutation_p.T238I|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		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)		CCTTTCTCCAGTGTGAACTGT	0.463																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1006-1008)aCt>aTt		zinc finger protein 671							96	91	92					19																	58232447		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232447G>A		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"Zinc fingers, C2H2-type", "-"	26279	protein-coding gene	gene with protein product	"hypothetical protein FLJ23506"					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1007C>T	19.37:g.58232447G>A	ENSP00000321848:p.Thr336Ile		Somatic				ZNF671_ENST00000335820.3_Missense_Mutation_p.T238I|AC003006.7_ENST00000599221.1_Intron	p.T336I	NM_024833.2	NP_079109.2	WXS	Illumina GAIIx	Phase_I	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1102	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	336					A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.1007C>T	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490341	0.64074	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.25749	1.78;1.78	1.88	0.772	0.18510	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42988	0.1227	M	0.67625	2.065	0.26980	N	0.96538	D	0.76494	0.999	D	0.66979	0.948	T	0.20538	-1.0272	9	0.87932	D	0	.	8.115	0.30937	0.0:0.2535:0.7465:0.0	.	336	Q8TAW3	ZN671_HUMAN	I	336;238	ENSP00000321848:T336I;ENSP00000338670:T238I	ENSP00000321848:T336I	T	-	2	0	ZNF671	62924259	0.912000	0.30974	0.942000	0.38095	0.983000	0.72400	1.438000	0.35002	0.334000	0.23590	0.467000	0.42956	ACT		0.463	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		32	83	0	0	0	1	0	32	83					A	58232447	G	A	58232447	3	1	21	1	0	0	0	0	1	0	0	0	18093	1029	36	3	601	3	ZNF671	19	58232447	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1982886	58232447	896536	797	2222										
ZSCAN18	65982	broad.mit.edu	37	chr19	58596656	58596656	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gatcggcaagggcgtccccaGggggcgcctccgtaggcagc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:58596656delG	ENST00000240727.6	-	7	1328	c.929delC	c.(928-930)cctfs	p.P310fs	ZSCAN18_ENST00000600404.1_Frame_Shift_Del_p.P366fs|ZSCAN18_ENST00000601144.1_Frame_Shift_Del_p.P310fs|ZSCAN18_ENST00000421612.2_Frame_Shift_Del_p.P174fs	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	310					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.P310fs*119(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCGTCCCCAGGGGGCGCCTC	0.746																																						ENST00000240727.6																			1	Deletion - Frameshift(1)	p.P310fs*119(1)	large_intestine(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(928-930)ctfs		zinc finger and SCAN domain containing 18							7	10	9					19																	58596656		1837	3758	5595	SO:0001589	frameshift_variant	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596656delG	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"-", "Zinc fingers, C2H2-type"	21037	protein-coding gene	gene with protein product			"zinc finger protein 447"	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.929delC	19.37:g.58596656delG	ENSP00000240727:p.Pro310fs		Somatic				ZSCAN18_ENST00000421612.2_Frame_Shift_Del_p.P174fs|ZSCAN18_ENST00000600404.1_Frame_Shift_Del_p.P366fs|ZSCAN18_ENST00000601144.1_Frame_Shift_Del_p.P310fs	p.P310fs	NM_023926.4	NP_076415.3	WXS	Illumina GAIIx	Phase_I	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1328	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	310					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Frame_Shift_Del	DEL	ENST00000240727.6	37	c.929delC	CCDS12971.1																																																																																				0.746	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		25	30						25	30	---	---	---	---	-	58596656	G	-	58596656	7	5	21	1	0	1	0	1	0	0	0	0	18245	1000	35	0	607	0	ZSCAN18	19	58596656	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	364209	58596656	532327	798	2223										
ZNF329	79673	broad.mit.edu	37	chr19	58640477	58640477	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tccatgaataacttccatggAatggttgaagccttttccac	7	10	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:58640477A>G	ENST00000598312.1	-	4	627	c.394T>C	c.(394-396)Tcc>Ccc	p.S132P	ZNF329_ENST00000358067.4_Missense_Mutation_p.S132P	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	132					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)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		ACTTCCATGGAATGGTTGAAG	0.423																																						ENST00000598312.1																			0				NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20						c.(394-396)Tcc>Ccc		zinc finger protein 329							110	107	108					19																	58640477		2203	4300	6503	SO:0001583	missense	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58640477A>G	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"Zinc fingers, C2H2-type"	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.394T>C	19.37:g.58640477A>G	ENSP00000470008:p.Ser132Pro		Somatic				ZNF329_ENST00000358067.4_Missense_Mutation_p.S132P	p.S132P	NM_024620.3	NP_078896.3	WXS	Illumina GAIIx	Phase_I	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	627	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	132					B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	c.394T>C	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	A	7.210	0.595203	0.13875	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.08720	3.06;3.06	4.58	3.57	0.40892	.	0.000000	0.45867	D	0.000326	T	0.12603	0.0306	M	0.78285	2.405	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.13495	-1.0507	10	0.62326	D	0.03	-9.33	9.9367	0.41556	0.9169:0.0:0.0831:0.0	.	132	Q86UD4	ZN329_HUMAN	P	132	ENSP00000350773:S132P;ENSP00000439527:S132P	ENSP00000350773:S132P	S	-	1	0	ZNF329	63332289	0.046000	0.20272	0.086000	0.20670	0.206000	0.24218	0.748000	0.26305	1.088000	0.41272	0.533000	0.62120	TCC		0.423	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		62	55	0	0	0	1	0	62	55					G	58640477	A	G	58640477	3	3	21	1	0	0	0	0	1	0	0	0	17862	246	9	4	1235	4	ZNF329	19	58640477	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	43821	58640477	488506	799	2224										
ZSCAN22	342945	broad.mit.edu	37	chr19	58850389	58850389	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgtgggaaagccttcagccaGagcacgcacctgactcaaca	10	13	2	2	rs140941763	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:58850389G>A	ENST00000329665.4	+	3	1320	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	391					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)		CCTTCAGCCAGAGCACGCACC	0.637																																						ENST00000329665.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.(1171-1173)caG>caA		zinc finger and SCAN domain containing 22		G		11,4395	17.9+/-39.9	0,11,2192	80	73	75		1173	1.6	1	19	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous	ZSCAN22	NM_181846.2		0,11,6492	AA,AG,GG		0.0,0.2497,0.0846		391/492	58850389	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850389G>A	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.1173G>A	19.37:g.58850389G>A			Somatic					p.Q391Q	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	1320	+		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)	391					Q15922|Q7Z3L8	Silent	SNP	ENST00000329665.4	37	c.1173G>A	CCDS12975.1																																																																																				0.637	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		46	64	0	0	0	1	0	46	64					A	58850389	G	A	58850389	2	1	21	1	0	0	0	0	0	0	0	1	18249	933	33	3		3	ZSCAN22	19	58850389	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	209912	58850389	278594	800	2225										
TRIB3	57761	broad.mit.edu	37	chr20	368784	368784	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtgggccccagcccagactgCccccctgcctgttgcccctg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:368784delC	ENST00000217233.3	+	2	683	c.130delC	c.(130-132)cccfs	p.P45fs	TRIB3_ENST00000422053.2_Frame_Shift_Del_p.P72fs|TRIB3_ENST00000485293.1_3'UTR	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	45	Interaction with DDIT3/CHOP.				cellular lipid metabolic process (GO:0044255)|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)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GCCCAGACTGCCCCCCTGCCT	0.627																																					Melanoma(101;421 2374 19538)	ENST00000217233.3																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21						c.(130-132)ccfs		tribbles pseudokinase 3				7,4257		1,5,2126	79	76	77			-4.4	0	20		77	14,8240		7,0,4120	no	frameshift	TRIB3	NM_021158.3		8,5,6246	A1A1,A1R,RR		0.1696,0.1642,0.1678			368784	21,12497	2203	4300	6503	SO:0001589	frameshift_variant	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:368784delC	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"chromosome 20 open reading frame 97", "tribbles homolog 3 (Drosophila)"	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.130delC	20.37:g.368784delC	ENSP00000217233:p.Pro45fs		Somatic				TRIB3_ENST00000422053.2_Frame_Shift_Del_p.P72fs|TRIB3_ENST00000485293.1_3'UTR	p.P45fs	NM_021158.3	NP_066981.2	WXS	Illumina GAIIx	Phase_I	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	2	683	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	45					Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Frame_Shift_Del	DEL	ENST00000217233.3	37	c.130delC	CCDS12997.1																																																																																				0.627	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		15	229						15	229	---	---	---	---	-	368784	C	-	368784	7	5	21	1	0	1	0	1	0	0	0	0	16499	739	26	0	132	0	TRIB3	20	368784	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08		368784	62656736	801	2226										
RBCK1	10616	broad.mit.edu	37	chr20	398171	398171	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cccctgctgttctctgcaggCtgtgggtgagcgtggaggat	16	10	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:398171C>G	ENST00000356286.5	+	3	874	c.169C>G	c.(169-171)Ctg>Gtg	p.L57V	RBCK1_ENST00000382181.2_5'UTR|RBCK1_ENST00000353660.3_Splice_Site_p.L15V	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	57	Interaction with IRF3.|Interaction with TAB2.|Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TCTCTGCAGGCTGTGGGTGAG	0.592																																						ENST00000356286.5																			0				kidney(1)|lung(4)	5						c.e3-1		RanBP-type and C3HC4-type zinc finger containing 1							62	53	56					20																	398171		2203	4300	6503	SO:0001630	splice_region_variant	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:398171C>G	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"RING-type (C3HC4) zinc fingers", "Zinc fingers, RAN-binding domain containing"	15864	protein-coding gene	gene with protein product	"heme-oxidized IRP2 ubiquitin ligase 1"	610924	"chromosome 20 open reading frame 18"	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.168-1C>G	20.37:g.398171C>G			Somatic				RBCK1_ENST00000353660.3_Splice_Site_p.L15_splice|RBCK1_ENST00000382181.2_5'UTR	p.L57_splice	NM_031229.2	NP_112506.2	WXS	Illumina GAIIx	Phase_I	Q9BYM8	HOIL1_HUMAN			3	874	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	57			Interaction with IRF3.|Interaction with TAB2.|Ubiquitin-like.		O95623|Q86SL2|Q96BS3|Q9BYM9	Splice_Site	SNP	ENST00000356286.5	37	c.167_splice	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	C	16.48	3.136193	0.56936	.	.	ENSG00000125826	ENST00000411647;ENST00000356286;ENST00000441733;ENST00000353660;ENST00000400244;ENST00000400243	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.12	4.15	0.48705	Ubiquitin supergroup (1);	0.000000	0.64402	D	0.000007	T	0.28400	0.0702	L	0.59436	1.845	0.80722	D	1	D;D;P	0.76494	0.957;0.999;0.911	P;D;B	0.65443	0.536;0.935;0.382	T	0.00503	-1.1701	10	0.72032	D	0.01	-11.8658	9.7734	0.40603	0.0:0.9039:0.0:0.0961	.	47;15;57	B4E0F5;Q9BYM8-3;Q9BYM8	.;.;HOIL1_HUMAN	V	57;57;56;15;57;98	ENSP00000415080:L57V;ENSP00000348632:L57V;ENSP00000387799:L56V;ENSP00000254960:L15V	ENSP00000254960:L15V	L	+	1	2	RBCK1	346171	0.998000	0.40836	1.000000	0.80357	0.719000	0.41307	0.419000	0.21247	2.653000	0.90120	0.557000	0.71058	CTG		0.592	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229	Missense_Mutation	17	58	0	0	0	1	0	17	58					G	398171	C	G	398171	5	3	21	1	0	0	0	0	0	0	1	0	13122	811	28	5	198	5	RBCK1	20	398171	Splice_Site	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	29387	398171	62627349	802	2227										
PRNP	5621	broad.mit.edu	37	chr20	4680506	4680506	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agcgcgtggttgagcagatgTgtatcacccagtacgagagg	15	8	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:4680506T>G	ENST00000379440.4	+	2	927	c.640T>G	c.(640-642)Tgt>Ggt	p.C214G	PRNP_ENST00000430350.2_Missense_Mutation_p.C214G	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TGAGCAGATGTGTATCACCCA	0.522																																						ENST00000379440.4																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						c.(640-642)Tgt>Ggt		prion protein	Tetracycline(DB00759)						155	131	140					20																	4680506		2203	4300	6503	SO:0001583	missense	5621				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	g.chr20:4680506T>G	M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"CD molecules"	9449	protein-coding gene	gene with protein product	"Creutzfeldt-Jakob disease", "Gerstmann-Strausler-Scheinker syndrome", "fatal familial insomnia", "p27-30"	176640	"prion protein (p27-30)"	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.640T>G	20.37:g.4680506T>G	ENSP00000368752:p.Cys214Gly		Somatic				PRNP_ENST00000430350.2_Missense_Mutation_p.C214G	p.C214G	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	WXS	Illumina GAIIx	Phase_I	P04156	PRIO_HUMAN			2	927	+			214			Interaction with GRB2, ERI3 and SYN1 (By similarity).			Missense_Mutation	SNP	ENST00000379440.4	37	c.640T>G	CCDS13080.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.421290	0.62622	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;D	0.99773	-6.72;-6.72;-6.72;-3.66	5.63	5.63	0.86233	Prion/Doppel protein, beta-ribbon domain (4);	0.000000	0.85682	D	0.000000	D	0.99715	0.9890	M	0.82517	2.595	0.58432	D	0.999999	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97358	0.9968	10	0.87932	D	0	-17.164	12.2259	0.54459	0.0:0.0:0.0:1.0	.	214;214;246	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	G	214;214;214;153;214	ENSP00000368752:C214G;ENSP00000399376:C214G;ENSP00000411599:C214G;ENSP00000415284:C214G	ENSP00000368752:C214G	C	+	1	0	PRNP	4628506	1.000000	0.71417	0.998000	0.56505	0.788000	0.44548	4.611000	0.61162	2.144000	0.66660	0.533000	0.62120	TGT		0.522	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		67	36	0	0	0	1	0	67	36					G	4680506	T	G	4680506	3	3	21	1	0	0	0	0	1	0	0	0	12556	1696	59	4	642	4	PRNP	20	4680506	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	4282335	4680506	58345014	803	2228										
BCL2L1	598	broad.mit.edu	37	chr20	30253853	30253853	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctggccctttcggctctcggCtgctgcattgttcccataga	10	14	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:30253853C>T	ENST00000307677.4	-	3	1011	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	BCL2L1_ENST00000376055.4_Missense_Mutation_p.A138T|BCL2L1_ENST00000376062.2_Missense_Mutation_p.A201T|BCL2L1_ENST00000420653.1_Missense_Mutation_p.A201T	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	201					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CGGCTCTCGGCTGCTGCATTG	0.557																																					Colon(51;693 1004 1401 20431 21026)	ENST00000307677.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(601-603)Gcc>Acc		BCL2-like 1							99	87	91					20																	30253853		2203	4300	6503	SO:0001583	missense	598				induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding	g.chr20:30253853C>T	Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	992	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 52"	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.601G>A	20.37:g.30253853C>T	ENSP00000302564:p.Ala201Thr		Somatic				BCL2L1_ENST00000420653.1_Missense_Mutation_p.A201T|BCL2L1_ENST00000376055.4_Missense_Mutation_p.A138T|BCL2L1_ENST00000376062.2_Missense_Mutation_p.A201T	p.A201T	NM_138578.1	NP_612815.1	WXS	Illumina GAIIx	Phase_I	Q07817	B2CL1_HUMAN	Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		3	1011	-	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		201					E1P5L6|Q5CZ89|Q5TE65|Q92976	Missense_Mutation	SNP	ENST00000307677.4	37	c.601G>A	CCDS13189.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153295	0.57259	.	.	ENSG00000171552	ENST00000376062;ENST00000376055;ENST00000307677;ENST00000420653;ENST00000450273	T;T;T;T;T	0.65549	3.51;-0.16;3.51;3.51;3.51	5.02	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	M	0.65975	2.015	0.52501	D	0.999956	B;B	0.32338	0.365;0.007	B;B	0.20577	0.03;0.009	T	0.60717	-0.7208	10	0.87932	D	0	0.4574	10.6189	0.45467	0.1916:0.8084:0.0:0.0	.	138;201	Q5TE63;Q07817	.;B2CL1_HUMAN	T	201;138;201;201;201	ENSP00000365230:A201T;ENSP00000365223:A138T;ENSP00000302564:A201T;ENSP00000405563:A201T;ENSP00000406203:A201T	ENSP00000302564:A201T	A	-	1	0	BCL2L1	29717514	1.000000	0.71417	0.958000	0.39756	0.974000	0.67602	5.848000	0.69458	1.308000	0.44962	0.555000	0.69702	GCC		0.557	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078575.1	NM_138578		38	110	0	0	0	1	0	38	110					T	30253853	C	T	30253853	3	4	21	1	0	0	0	0	1	0	0	0	1367	797	28	3	104	3	BCL2L1	20	30253853	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	25573347	30253853	32771667	804	2229										
E2F1	1869	broad.mit.edu	37	chr20	32267721	32267721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gctcagcagctccaggaagcGcttggtggtcagattcagtg	14	10	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:32267721G>A	ENST00000343380.5	-	3	551	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	138	Interaction with BIRC2/c-IAP1.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|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 (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|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)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						TCCAGGAAGCGCTTGGTGGTC	0.602																																						ENST00000343380.5																			0				NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(412-414)Cgc>Tgc		E2F transcription factor 1							87	83	84					20																	32267721		2203	4300	6503	SO:0001583	missense	1869				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr20:32267721G>A		CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.412C>T	20.37:g.32267721G>A	ENSP00000345571:p.Arg138Cys		Somatic					p.R138C	NM_005225.2	NP_005216.1	WXS	Illumina GAIIx	Phase_I	Q01094	E2F1_HUMAN			3	551	-			138					Q13143|Q92768	Missense_Mutation	SNP	ENST00000343380.5	37	c.412C>T	CCDS13224.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424553	0.83667	.	.	ENSG00000101412	ENST00000343380	T	0.10192	2.9	4.61	4.61	0.57282	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.40473	0.1118	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49214	-0.8963	10	0.87932	D	0	.	16.7324	0.85438	0.0:0.0:1.0:0.0	.	138	Q01094	E2F1_HUMAN	C	138	ENSP00000345571:R138C	ENSP00000345571:R138C	R	-	1	0	E2F1	31731382	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.513000	0.45494	2.550000	0.86006	0.462000	0.41574	CGC		0.602	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078731.2			32	60	0	0	0	1	0	32	60					A	32267721	G	A	32267721	3	1	21	1	0	0	0	0	1	0	0	0	4868	1087	38	1	921	1	E2F1	20	32267721	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2013868	32267721	30757799	805	2230										
C20orf117	140710	broad.mit.edu	37	chr20	35444375	35444376	+	Frame_Shift_Ins	INS	-	-	C													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggccaggcgtgcctcaggaINScccccacagccacctccatg					rs533506514		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:35444375_35444376insC	ENST00000357779.3	-	5	1081_1082	c.755_756insG	c.(754-756)ggtfs	p.G252fs	SOGA1_ENST00000279034.6_Frame_Shift_Ins_p.G252fs|SOGA1_ENST00000456801.2_Frame_Shift_Ins_p.G93fs|SOGA1_ENST00000237536.4_Frame_Shift_Ins_p.G490fs			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	252					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						GTGCCTCAGGACCCCCACAGCC	0.668																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(1468-1470)gccfs		suppressor of glucose, autophagy associated 1																																				SO:0001589	frameshift_variant	140710							g.chr20:35444375_35444376insC	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.756dupG	20.37:g.35444380_35444380dupC	ENSP00000350424:p.Gly252fs		Somatic				SOGA1_ENST00000456801.2_Frame_Shift_Ins_p.A93fs|SOGA1_ENST00000357779.3_Frame_Shift_Ins_p.A252fs|SOGA1_ENST00000279034.5_Frame_Shift_Ins_p.A252fs	p.A490fs	NM_080627.2	NP_542194.2	WXS	Illumina GAIIx	Phase_I	O94964	K0889_HUMAN			5	1810_1811	-			252					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Frame_Shift_Ins	INS	ENST00000357779.3	37	c.1469_1470insG																																																																																					0.668	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		17	35						17	35	---	---	---	---	C	35444376	-	C	35444375	7	5	21	1	0	1	1	0	0	0	0	0	2085	262	10	0	3621	0	C20orf117	20	35444375	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	3176654	35444375	27581145	806	2231										
PPP1R16B	26051	broad.mit.edu	37	chr20	37546949	37546949	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggggatgtctggaaggtgcaTgaggtgcctgactacagcat	16	7	1	2	rs201078949		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:37546949T>C	ENST00000299824.1	+	11	1533	c.1344T>C	c.(1342-1344)caT>caC	p.H448H	PPP1R16B_ENST00000373331.2_Silent_p.H406H	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	448					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GGAAGGTGCATGAGGTGCCTG	0.627																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1342-1344)caT>caC		protein phosphatase 1, regulatory subunit 16B							148	138	142					20																	37546949		2203	4300	6503	SO:0001819	synonymous_variant	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37546949T>C	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1344T>C	20.37:g.37546949T>C			Somatic				PPP1R16B_ENST00000373331.2_Silent_p.H406H	p.H448H	NM_015568.2	NP_056383.1	WXS	Illumina GAIIx	Phase_I	Q96T49	PP16B_HUMAN			11	1533	+		Myeloproliferative disorder(115;0.00878)	448					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	ENST00000299824.1	37	c.1344T>C	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	T	10.09	1.254256	0.22965	.	.	ENSG00000101445	ENST00000438192	.	.	.	5.3	-9.45	0.00600	.	.	.	.	.	T	0.56761	0.2007	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65656	-0.6115	4	.	.	.	.	13.3109	0.60380	0.0:0.7285:0.0854:0.1861	.	.	.	.	T	349	.	.	M	+	2	0	PPP1R16B	36980363	0.066000	0.20996	0.852000	0.33557	0.997000	0.91878	-1.013000	0.03645	-1.416000	0.02019	0.533000	0.62120	ATG		0.627	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		11	349	0	0	0	1	0	11	349					C	37546949	T	C	37546949	2	2	21	1	0	0	0	0	0	0	0	1	12378	1461	51	4		4	PPP1R16B	20	37546949	Silent	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2102574	37546949	25478571	807	2232										
PTPRT	11122	broad.mit.edu	37	chr20	40980772	40980772	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gacagggggcccaaagccctTtgctgtgctggccttgatgg	15	11	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:40980772T>C	ENST00000373187.1	-	10	1713	c.1714A>G	c.(1714-1716)Aag>Gag	p.K572E	PTPRT_ENST00000356100.2_Missense_Mutation_p.K572E|PTPRT_ENST00000373190.1_Missense_Mutation_p.K572E|PTPRT_ENST00000373184.1_Missense_Mutation_p.K572E|PTPRT_ENST00000373193.3_Missense_Mutation_p.K572E|PTPRT_ENST00000373198.4_Missense_Mutation_p.K572E|PTPRT_ENST00000373201.1_Missense_Mutation_p.K572E			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	572	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCAAAGCCCTTTGCTGTGCTG	0.517																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(1714-1716)Aag>Gag		protein tyrosine phosphatase, receptor type, T							82	86	85					20																	40980772		1932	4127	6059	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.chr20:40980772T>C	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.1714A>G	20.37:g.40980772T>C	ENSP00000362283:p.Lys572Glu		Somatic				PTPRT_ENST00000373187.1_Missense_Mutation_p.K572E|PTPRT_ENST00000373190.1_Missense_Mutation_p.K572E|PTPRT_ENST00000373193.3_Missense_Mutation_p.K572E|PTPRT_ENST00000373201.1_Missense_Mutation_p.K572E|PTPRT_ENST00000373184.1_Missense_Mutation_p.K572E|PTPRT_ENST00000356100.2_Missense_Mutation_p.K572E	p.K572E	NM_133170.3	NP_573400.3	WXS	Illumina GAIIx	Phase_I	O14522	PTPRT_HUMAN			10	1949	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	572			Fibronectin type-III 3.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1714A>G	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132604	0.77662	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.046691	0.85682	D	0.000000	T	0.68256	0.2981	M	0.88842	2.985	0.80722	D	1	P;P	0.47841	0.901;0.864	P;P	0.48141	0.568;0.507	T	0.73959	-0.3818	10	0.49607	T	0.09	.	16.5549	0.84482	0.0:0.0:0.0:1.0	.	572;572	O14522-1;O14522	.;PTPRT_HUMAN	E	572	ENSP00000362286:K572E;ENSP00000362283:K572E;ENSP00000362289:K572E;ENSP00000348408:K572E;ENSP00000362294:K572E;ENSP00000362280:K572E;ENSP00000362297:K572E	ENSP00000348408:K572E	K	-	1	0	PTPRT	40414186	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	8.040000	0.89188	2.310000	0.77875	0.450000	0.29827	AAG		0.517	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			48	101	0	0	0	1	0	48	101					C	40980772	T	C	40980772	3	2	21	1	0	0	0	0	1	0	0	0	12827	1850	64	4	2760	4	PTPRT	20	40980772	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	3433823	40980772	22044748	808	2233										
MYBL2	4605	broad.mit.edu	37	chr20	42333926	42333926	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctcgctgacatccaccccagTgtgcagccagaaggtggtgg	13	13	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:42333926T>C	ENST00000217026.4	+	9	1560	c.1433T>C	c.(1432-1434)gTg>gCg	p.V478A	MYBL2_ENST00000396863.4_Missense_Mutation_p.V454A	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	478					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCCACCCCAGTGTGCAGCCAG	0.557																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(1432-1434)gTg>gCg		v-myb avian myeloblastosis viral oncogene homolog-like 2							98	83	88					20																	42333926		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42333926T>C		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1433T>C	20.37:g.42333926T>C	ENSP00000217026:p.Val478Ala		Somatic				MYBL2_ENST00000396863.4_Missense_Mutation_p.V454A	p.V478A	NM_002466.2	NP_002457.1	WXS	Illumina GAIIx	Phase_I	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		9	1560	+		Myeloproliferative disorder(115;0.00452)	478					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.1433T>C	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.728269	0.69074	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.48522	0.81;0.81	4.48	4.48	0.54585	C-myb, C-terminal (1);	0.130152	0.51477	D	0.000088	T	0.50582	0.1624	M	0.78049	2.395	0.80722	D	1	P;P	0.50819	0.843;0.939	B;B	0.42495	0.384;0.389	T	0.58912	-0.7552	10	0.48119	T	0.1	-18.0449	13.0978	0.59202	0.0:0.0:0.0:1.0	.	454;478	F8W6N6;P10244	.;MYBB_HUMAN	A	454;478	ENSP00000380072:V454A;ENSP00000217026:V478A	ENSP00000217026:V478A	V	+	2	0	MYBL2	41767340	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.589000	0.82641	1.805000	0.52779	0.459000	0.35465	GTG		0.557	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		28	67	0	0	0	1	0	28	67					C	42333926	T	C	42333926	3	2	21	1	0	0	0	0	1	0	0	0	10019	1696	59	4	1467	4	MYBL2	20	42333926	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1353154	42333926	20691594	809	2234										
SEMG1	6406	broad.mit.edu	37	chr20	43837242	43837242	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggatctcatgggggattggAtattgtaattatagagcagg	14	3	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:43837242A>G	ENST00000372781.3	+	2	1361	c.1304A>G	c.(1303-1305)gAt>gGt	p.D435G	SEMG1_ENST00000244069.6_Missense_Mutation_p.D375G	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	435	Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGGGGATTGGATATTGTAATT	0.403																																						ENST00000372781.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(1303-1305)gAt>gGt		semenogelin I							126	115	119					20																	43837242		2203	4300	6503	SO:0001583	missense	6406							g.chr20:43837242A>G		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1304A>G	20.37:g.43837242A>G	ENSP00000361867:p.Asp435Gly		Somatic				SEMG1_ENST00000244069.6_Missense_Mutation_p.D375G	p.D435G	NM_003007.3	NP_002998.1	WXS	Illumina GAIIx	Phase_I					2	1361	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.1304A>G	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	a	0.142	-1.100567	0.01843	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.08008	3.14;3.14	1.47	-1.35	0.09114	.	.	.	.	.	T	0.04272	0.0118	L	0.43923	1.385	0.09310	N	1	B;B;P	0.36909	0.158;0.015;0.573	B;B;B	0.28305	0.025;0.006;0.088	T	0.38542	-0.9656	9	0.10636	T	0.68	.	1.437	0.02345	0.4489:0.0:0.2313:0.3199	.	375;435;375	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	G	375;435	ENSP00000244069:D375G;ENSP00000361867:D435G	ENSP00000244069:D375G	D	+	2	0	SEMG1	43270656	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.059000	0.11731	-0.423000	0.07394	0.455000	0.32223	GAT		0.403	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		121	90	0	0	0	1	0	121	90					G	43837242	A	G	43837242	3	3	21	1	0	0	0	0	1	0	0	0	14059	333	12	4	1310	4	SEMG1	20	43837242	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	1503316	43837242	19188278	810	2235										
MATN4	8785	broad.mit.edu	37	chr20	43933378	43933378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctcgaactcgaaagggcgcaCgctgcgggagctgtcaatca	13	12	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:43933378C>T	ENST00000372754.1	-	2	141	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	MATN4_ENST00000372756.1_Missense_Mutation_p.V45M|MATN4_ENST00000342716.4_Missense_Mutation_p.V45M|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000353917.5_Missense_Mutation_p.V45M|MATN4_ENST00000537548.1_Missense_Mutation_p.V45M|MATN4_ENST00000360607.6_Missense_Mutation_p.V45M|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000372751.4_Intron|RBPJL_ENST00000343694.3_5'Flank			O95460	MATN4_HUMAN	matrilin 4	45	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)				AAAGGGCGCACGCTGCGGGAG	0.632																																						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.(133-135)Gtg>Atg		matrilin 4							29	26	27					20																	43933378		2203	4296	6499	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43933378C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.133G>A	20.37:g.43933378C>T	ENSP00000361840:p.Val45Met		Somatic				MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.V45M|MATN4_ENST00000360607.5_Missense_Mutation_p.V45M|MATN4_ENST00000372756.1_Missense_Mutation_p.V45M|MATN4_ENST00000353917.5_Missense_Mutation_p.V45M|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.V45M	p.V45M			WXS	Illumina GAIIx	Phase_I	O95460	MATN4_HUMAN			4	377	-		Myeloproliferative disorder(115;0.0122)	45			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.133G>A		.	.	.	.	.	.	.	.	.	.	C	20.6	4.025058	0.75390	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	4.2	4.2	0.49525	.	0.000000	0.38111	N	0.001807	D	0.90672	0.7074	M	0.78285	2.405	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.973;1.0;0.999	D	0.92198	0.5765	10	0.87932	D	0	.	15.711	0.77626	0.0:1.0:0.0:0.0	.	45;45;45	A6NNA4;O95460-4;O95460-2	.;.;.	M	45	ENSP00000361840:V45M;ENSP00000361842:V45M;ENSP00000243983:V45M;ENSP00000353819:V45M;ENSP00000343164:V45M;ENSP00000440328:V45M	ENSP00000255132:V45M	V	-	1	0	MATN4	43366792	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.808000	0.69165	2.161000	0.67846	0.462000	0.41574	GTG		0.632	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			19	41	0	0	0	1	0	19	41					T	43933378	C	T	43933378	3	4	21	1	0	0	0	0	1	0	0	0	9345	536	19	1	1644	1	MATN4	20	43933378	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	96136	43933378	19092142	811	2236										
ZNFX1	57169	broad.mit.edu	37	chr20	47892343	47892343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gttggtatgggaattcctggGcctggcatccagatgaggtc	15	8	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:47892343G>A	ENST00000396105.1	-	2	280	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	ZFAS1_ENST00000326677.5_RNA|ZFAS1_ENST00000417721.1_RNA|ZNFX1_ENST00000371754.4_Missense_Mutation_p.P12S|ZNFX1_ENST00000371752.1_Missense_Mutation_p.P12S|ZFAS1_ENST00000371743.3_RNA|ZFAS1_ENST00000458653.1_RNA|ZFAS1_ENST00000428008.1_RNA|ZFAS1_ENST00000441722.1_RNA|ZFAS1_ENST00000450535.1_RNA	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	12							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)			GAATTCCTGGGCCTGGCATCC	0.423																																						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.(34-36)Ccc>Tcc		zinc finger, NFX1-type containing 1							186	156	166					20																	47892343		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47892343G>A	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.34C>T	20.37:g.47892343G>A	ENSP00000379412:p.Pro12Ser		Somatic				ZNFX1_ENST00000371752.1_Missense_Mutation_p.P12S|ZNFX1_ENST00000371754.4_Missense_Mutation_p.P12S	p.P12S	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)		2	280	-			12					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.34C>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529570	0.44969	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000537431;ENST00000371744	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.84	3.87	0.44632	.	0.455507	0.18916	N	0.127610	T	0.36054	0.0953	L	0.44542	1.39	0.30218	N	0.797049	B	0.26081	0.141	B	0.28553	0.091	T	0.39231	-0.9624	10	0.52906	T	0.07	-2.8354	10.7899	0.46426	0.0:0.1916:0.8084:0.0	.	12	Q9P2E3	ZNFX1_HUMAN	S	12	ENSP00000360819:P12S;ENSP00000360817:P12S;ENSP00000379412:P12S;ENSP00000360809:P12S	ENSP00000360809:P12S	P	-	1	0	ZNFX1	47325750	0.956000	0.32656	0.997000	0.53966	0.954000	0.61252	1.295000	0.33377	1.235000	0.43724	0.555000	0.69702	CCC		0.423	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		24	63	0	0	0	1	0	24	63					A	47892343	G	A	47892343	3	1	21	1	0	0	0	0	1	0	0	0	18220	1203	42	3	5774	3	ZNFX1	20	47892343	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3958965	47892343	15133177	812	2237										
ATP9A	10079	broad.mit.edu	37	chr20	50255979	50255979	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgccaggggtcctcagctgcAtggaagactggtctcggccc	14	14	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:50255979A>G	ENST00000338821.5	-	15	1835	c.1571T>C	c.(1570-1572)aTg>aCg	p.M524T	ATP9A_ENST00000311637.5_Missense_Mutation_p.M388T|ATP9A_ENST00000402822.1_Missense_Mutation_p.M403T	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	524					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						CCTCAGCTGCATGGAAGACTG	0.552											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(1570-1572)aTg>aCg		ATPase, class II, type 9A							142	116	125					20																	50255979		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.chr20:50255979A>G	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.1571T>C	20.37:g.50255979A>G	ENSP00000342481:p.Met524Thr		Somatic	OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	ATP9A_ENST00000402822.1_Missense_Mutation_p.M403T|ATP9A_ENST00000311637.5_Missense_Mutation_p.M388T	p.M524T	NM_006045.1	NP_006036.1	WXS	Illumina GAIIx	Phase_I	O75110	ATP9A_HUMAN			15	1835	-			524					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.1571T>C	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.036801	0.75617	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.62639	0.01;0.01;0.01	5.32	5.32	0.75619	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.035723	0.85682	D	0.000000	T	0.74816	0.3766	M	0.79614	2.46	0.80722	D	1	B;B	0.33940	0.065;0.433	B;P	0.47915	0.075;0.561	T	0.77795	-0.2454	10	0.87932	D	0	-32.2926	15.2837	0.73810	1.0:0.0:0.0:0.0	.	403;524	O75110-2;O75110	.;ATP9A_HUMAN	T	388;524;403	ENSP00000309086:M388T;ENSP00000342481:M524T;ENSP00000385875:M403T	ENSP00000309086:M388T	M	-	2	0	ATP9A	49689386	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.217000	0.95160	2.013000	0.59113	0.533000	0.62120	ATG		0.552	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		46	100	0	0	0	1	0	46	100					G	50255979	A	G	50255979	3	3	21	1	0	0	0	0	1	0	0	0	1198	217	8	4	1628	4	ATP9A	20	50255979	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	2363636	50255979	12769541	813	2238										
GNAS	2778	broad.mit.edu	37	chr20	57428472	57428472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cccagccgaagagatggagaCcgaaccgcctcacaacgagc	11	15	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:57428472C>T	ENST00000371100.4	+	1	704	c.152C>T	c.(151-153)aCc>aTc	p.T51I	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_5'Flank|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.T51I|GNAS_ENST00000371102.4_Missense_Mutation_p.T51I|GNAS_ENST00000371075.3_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAGATGGAGACCGAACCGCCT	0.652			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(151-153)aCc>aTc		GNAS complex locus							16	19	18					20																	57428472		1880	4106	5986	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57428472C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.152C>T	20.37:g.57428472C>T	ENSP00000360141:p.Thr51Ile	TSP Lung(22;0.16)	Somatic				GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.T51I|GNAS_ENST00000371102.4_Missense_Mutation_p.T51I|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000464624.2_3'UTR	p.T51I	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	WXS	Illumina GAIIx	Phase_I	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	704	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.152C>T	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905665	0.52333	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.90620	-2.7;-2.69	4.56	4.56	0.56223	.	.	.	.	.	D	0.87720	0.6248	L	0.51422	1.61	0.80722	D	1	P	0.48162	0.906	B	0.41036	0.346	D	0.89279	0.3610	9	0.72032	D	0.01	.	13.5289	0.61611	0.0:1.0:0.0:0.0	.	51	Q5JWF2	GNAS1_HUMAN	I	51	ENSP00000360141:T51I;ENSP00000360143:T51I	ENSP00000360140:T51I	T	+	2	0	GNAS	56861867	0.977000	0.34250	0.950000	0.38849	0.956000	0.61745	3.666000	0.54540	2.469000	0.83416	0.563000	0.77884	ACC		0.652	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		16	4	0	0	0	1	0	16	4					T	57428472	C	T	57428472	3	4	21	1	0	0	0	0	1	0	0	0	6518	507	18	3	896	3	GNAS	20	57428472	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	7172493	57428472	5597048	814	2239										
ZNF831	128611	broad.mit.edu	37	chr20	57767907	57767907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggaagtgcggccagagaagGctgaagatgttctcccagga	15	8	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:57767907G>A	ENST00000371030.2	+	1	1833	c.1833G>A	c.(1831-1833)agG>agA	p.R611R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	611							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)					GCCAGAGAAGGCTGAAGATGT	0.597																																						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.(1831-1833)agG>agA		zinc finger protein 831							52	61	58					20																	57767907		2070	4195	6265	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767907G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1833G>A	20.37:g.57767907G>A			Somatic					p.R611R	NM_178457.1	NP_848552.1	WXS	Illumina GAIIx	Phase_I	Q5JPB2	ZN831_HUMAN			1	1833	+	all_lung(29;0.0085)		611					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.1833G>A	CCDS42894.1																																																																																				0.597	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		46	141	0	0	0	1	0	46	141					A	57767907	G	A	57767907	2	1	21	1	0	0	0	0	0	0	0	1	18200	1194	42	3		3	ZNF831	20	57767907	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	339435	57767907	5257613	815	2240										
LAMA5	3911	broad.mit.edu	37	chr20	60927343	60927343	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgtgagtactcggtggtgcaGatggccgcgtcgtcccgtgt	16	11	0	2	rs531074826		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:60927343G>A	ENST00000252999.3	-	4	708	c.642C>T	c.(640-642)atC>atT	p.I214I	RP11-157P1.5_ENST00000478167.1_RNA|RP11-157P1.5_ENST00000487421.1_RNA|LAMA5_ENST00000370677.3_Silent_p.I214I|LAMA5_ENST00000370692.3_Silent_p.I214I|RP11-157P1.5_ENST00000456721.2_RNA|RP11-157P1.5_ENST00000477848.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	214	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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)			CGGTGGTGCAGATGGCCGCGT	0.697													g|||	1	0.000199681	0	0	5008	,	,		12451	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.(640-642)atC>atT		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						71	63	66					20																	60927343		2200	4295	6495	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60927343G>A	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.642C>T	20.37:g.60927343G>A			Somatic				LAMA5_ENST00000370692.3_Silent_p.I214I|LAMA5_ENST00000370677.3_Silent_p.I214I	p.I214I	NM_005560.3	NP_005551.3	WXS	Illumina GAIIx	Phase_I	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		4	708	-	Breast(26;1.57e-08)		214			Laminin N-terminal.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.642C>T	CCDS33502.1																																																																																				0.697	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		19	54	0	0	0	1	0	19	54					A	60927343	G	A	60927343	2	1	21	1	0	0	0	0	0	0	0	1	8618	932	33	3		3	LAMA5	20	60927343	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	3159436	60927343	2098177	816	2241										
PRIC285	85441	broad.mit.edu	37	chr20	62201882	62201882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agtggacggcaaacgtccagCtgtactgggtcttcctctcc	11	13	2	0	rs138005803		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:62201882C>T	ENST00000467148.1	-	3	614	c.545G>A	c.(544-546)aGc>aAc	p.S182N	HELZ2_ENST00000479540.1_5'UTR|HELZ2_ENST00000427522.2_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	182					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AAACGTCCAGCTGTACTGGGT	0.627													C|||	1	0.000199681	0	0	5008	,	,		15755	0		0.001	False		,,,				2504	0					ENST00000467148.1																			0											c.(544-546)aGc>aAc		helicase with zinc finger 2, transcriptional coactivator		C	ASN/SER	4,4400	8.1+/-20.4	0,4,2198	89	76	80		545	0.1	0.1	20	dbSNP_134	80	1,8597		0,1,4298	no	missense	PRIC285	NM_001037335.2	46	0,5,6496	TT,TC,CC		0.0116,0.0908,0.0385	benign	182/2650	62201882	5,12997	2202	4299	6501	SO:0001583	missense	85441							g.chr20:62201882C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.545G>A	20.37:g.62201882C>T	ENSP00000417401:p.Ser182Asn		Somatic				HELZ2_ENST00000479540.1_5'UTR	p.S182N	NM_001037335.2	NP_001032412.2	WXS	Illumina GAIIx	Phase_I					3	614	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.545G>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	0.682	-0.797856	0.02862	9.08E-4	1.16E-4	ENSG00000130589	ENST00000467148	T	0.02236	4.38	4.28	0.0516	0.14298	.	1.515840	0.03978	N	0.292737	T	0.03783	0.0107	L	0.56769	1.78	0.09310	N	1	B;B	0.24258	0.1;0.012	B;B	0.22152	0.038;0.004	T	0.45848	-0.9233	10	0.42905	T	0.14	-13.7404	7.4825	0.27413	0.0:0.493:0.0:0.507	.	182;182	Q4VXQ0;Q9BYK8	.;PR285_HUMAN	N	182	ENSP00000417401:S182N	ENSP00000417401:S182N	S	-	2	0	RP4-697K14.7	61672326	0.000000	0.05858	0.113000	0.21522	0.072000	0.16883	-0.731000	0.04909	-0.003000	0.14444	-0.259000	0.10710	AGC		0.627	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		49	32	0	0	0	1	0	49	32					T	62201882	C	T	62201882	3	4	21	1	0	0	0	0	1	0	0	0	12497	797	28	3	7495	3	PRIC285	20	62201882	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1274539	62201882	823638	817	2242										
GMEB2	26205	broad.mit.edu	37	chr20	62236098	62236098	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cctaggacggcttcctacctAacacggcttccttgagctgg	10	14	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:62236098A>G	ENST00000266068.1	-	2	705	c.227T>C	c.(226-228)tTa>tCa	p.L76S	GMEB2_ENST00000370069.1_Missense_Mutation_p.L25S|GMEB2_ENST00000370077.1_Missense_Mutation_p.L76S			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	76					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)			CTTCCTACCTAACACGGCTTC	0.572																																						ENST00000266068.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18						c.(226-228)tTa>tCa		glucocorticoid modulatory element binding protein 2							74	72	73					20																	62236098		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.chr20:62236098A>G	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.227T>C	20.37:g.62236098A>G	ENSP00000266068:p.Leu76Ser		Somatic				GMEB2_ENST00000370077.1_Missense_Mutation_p.L76S|GMEB2_ENST00000370069.1_Missense_Mutation_p.L25S	p.L76S			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)		2	705	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		76					E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	ENST00000266068.1	37	c.227T>C	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980967	0.53827	.	.	ENSG00000101216	ENST00000370069;ENST00000370077;ENST00000266068	T;T;T	0.64803	-0.12;0.44;0.44	4.87	4.87	0.63330	.	0.090745	0.46758	D	0.000270	T	0.49695	0.1572	N	0.08118	0	0.37206	D	0.904604	D	0.63880	0.993	P	0.53649	0.731	T	0.51284	-0.8725	10	0.08599	T	0.76	-8.4045	14.1277	0.65233	1.0:0.0:0.0:0.0	.	76	Q9UKD1	GMEB2_HUMAN	S	25;76;76	ENSP00000359086:L25S;ENSP00000359094:L76S;ENSP00000266068:L76S	ENSP00000266068:L76S	L	-	2	0	GMEB2	61706542	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.709000	0.68384	1.822000	0.53115	0.379000	0.24179	TTA		0.572	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1	NM_012384		23	128	0	0	0	1	0	23	128					G	62236098	A	G	62236098	3	3	21	1	0	0	0	0	1	0	0	0	6496	372	13	4	1397	4	GMEB2	20	62236098	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	34216	62236098	789422	818	2243										
TNFRSF6B	8771	broad.mit.edu	37	chr20	62328274	62328274	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agcggctggtgtgcgcccagTgccccccaggcacctttgtg	14	15	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:62328274T>A	ENST00000369996.1	+	1	254	c.154T>A	c.(154-156)Tgc>Agc	p.C52S	ARFRP1_ENST00000485858.1_5'Flank|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V1354E|RTEL1_ENST00000318100.4_Missense_Mutation_p.V1354E	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	52					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)			GTGCGCCCAGTGCCCCCCAGG	0.701																																						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.(4060-4062)gTg>gAg		regulator of telomere elongation helicase 1							15	19	17					20																	62328274		2172	4274	6446	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62328274T>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.154T>A	20.37:g.62328274T>A	ENSP00000359013:p.Cys52Ser		Somatic				TNFRSF6B_ENST00000369996.1_Missense_Mutation_p.C52S|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V1354E	p.V1354E			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)		36	4888	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		0						Missense_Mutation	SNP	ENST00000369996.1	37	c.4061T>A	CCDS13532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.9|21.9	4.213315|4.213315	0.79352|0.79352	.|.	.|.	ENSG00000243509|ENSG00000258366	ENST00000370006;ENST00000369996;ENST00000342852|ENST00000318100	D|D	0.99422|0.83250	-5.88|-1.7	4.06|4.06	2.89|2.89	0.33648|0.33648	TNFR/CD27/30/40/95 cysteine-rich region (1);|.	.|0.662303	.|0.11457	.|U	.|0.562105	D|D	0.88407|0.88407	0.6428|0.6428	M|M	0.81614|0.81614	2.55|2.55	0.36968|0.36968	D|D	0.893676|0.893676	D|.	0.89917|.	1.0|.	D|.	0.64410|.	0.925|.	D|D	0.86904|0.86904	0.2056|0.2056	9|8	0.87932|0.87932	D|D	0|0	-22.213|-22.213	10.1606|10.1606	0.42849|0.42849	0.0:0.0:0.1684:0.8316|0.0:0.0:0.1684:0.8316	.|.	52|.	O95407|.	TNF6B_HUMAN|.	S|E	52|1354	ENSP00000359013:C52S|ENSP00000322287:V1354E	ENSP00000342328:C52S|ENSP00000322287:V1354E	C|V	+|+	1|2	0|0	TNFRSF6B|AL353715.1	61798718|61798718	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.498000|0.498000	0.33706|0.33706	2.181000|2.181000	0.42547|0.42547	0.402000|0.402000	0.25451|0.25451	0.379000|0.379000	0.24179|0.24179	TGC|GTG		0.701	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			32	22	0	0	0	1	0	32	22					A	62328274	T	A	62328274	3	1	21	1	0	0	0	0	1	0	0	0	16313	1696	59	4	156	4	TNFRSF6B	20	62328274	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	92176	62328274	697246	819	2244										
UCKL1	54963	broad.mit.edu	37	chr20	62571740	62571740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggctcactcaccaggagcacGcgcactgccatcatggccgc	11	17	3	0	rs573146175	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:62571740G>A	ENST00000354216.6	-	13	1443	c.1401C>T	c.(1399-1401)cgC>cgT	p.R467R	UCKL1_ENST00000369892.3_Silent_p.R467R|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000358711.3_3'UTR|MIR1914_ENST00000607800.1_RNA|UCKL1_ENST00000369908.5_Silent_p.R452R	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	467					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCAGGAGCACGCGCACTGCCA	0.632													G|||	6	0.00119808	0	0	5008	,	,		16675	0		0	False		,,,				2504	0.0061					ENST00000369908.5																			0				endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1354-1356)cgC>cgT		uridine-cytidine kinase 1-like 1							56	51	52					20																	62571740		2196	4298	6494	SO:0001819	synonymous_variant	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62571740G>A	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"uridine kinase-like 1"	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1401C>T	20.37:g.62571740G>A			Somatic				UCKL1_ENST00000369892.3_Silent_p.R467R|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000354216.6_Silent_p.R467R	p.R452R	NM_001193379.1	NP_001180308.1	WXS	Illumina GAIIx	Phase_I	Q9NWZ5	UCKL1_HUMAN			13	1655	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		467					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	ENST00000354216.6	37	c.1356C>T	CCDS13547.1																																																																																				0.632	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		18	42	0	0	0	1	0	18	42					A	62571740	G	A	62571740	2	1	21	1	0	0	0	0	0	0	0	1	16940	1074	38	1		1	UCKL1	20	62571740	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	243466	62571740	453780	820	2245										
MYT1	4661	broad.mit.edu	37	chr20	62839359	62839359	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaggaggaggaggaagaggaGgaggaggaggatgaagaaga	23	0	0	4	rs573020004		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:62839359G>A	ENST00000328439.1	+	7	1174	c.810G>A	c.(808-810)gaG>gaA	p.E270E	MYT1_ENST00000536311.1_Silent_p.E270E|MYT1_ENST00000360149.4_Intron	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)			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)					aggaagaggaggaggaggagg	0.577													g|||	1	0.000199681	0	0	5008	,	,		13584	0		0	False		,,,				2504	0.001				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.(808-810)gaG>gaA		myelin transcription factor 1							20	20	20					20																	62839359		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.chr20:62839359G>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.810G>A	20.37:g.62839359G>A			Somatic				MYT1_ENST00000328439.1_Silent_p.E270E|MYT1_ENST00000360149.4_Intron	p.E270E			WXS	Illumina GAIIx	Phase_I	Q01538	MYT1_HUMAN			7	1174	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		270			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.810G>A	CCDS13558.1																																																																																				0.577	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		15	21	0	0	0	1	0	15	21					A	62839359	G	A	62839359	2	1	21	1	0	0	0	0	0	0	0	1	10115	991	35	3		3	MYT1	20	62839359	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	267619	62839359	186161	821	2246										
CHODL	140578	broad.mit.edu	37	chr21	19629084	19629084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tggagatgggcaaacatctgGtgcctgcccagatctctacc	11	12	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:19629084G>A	ENST00000299295.2	+	2	729	c.338G>A	c.(337-339)gGt>gAt	p.G113D	CHODL_ENST00000543733.1_Missense_Mutation_p.G94D|CHODL_ENST00000338326.3_Missense_Mutation_p.G72D|CHODL_ENST00000400128.1_Missense_Mutation_p.G72D|CHODL_ENST00000400131.1_Missense_Mutation_p.G72D|CHODL_ENST00000400127.1_Missense_Mutation_p.G72D|CHODL_ENST00000400135.1_Missense_Mutation_p.G72D	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	113	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		CAAACATCTGGTGCCTGCCCA	0.507																																						ENST00000299295.2																			0				kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(337-339)gGt>gAt		chondrolectin							100	105	104					21																	19629084		2203	4300	6503	SO:0001583	missense	140578				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	g.chr21:19629084G>A	AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"chromosome 21 open reading frame 68"	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.338G>A	21.37:g.19629084G>A	ENSP00000299295:p.Gly113Asp		Somatic				CHODL_ENST00000400127.1_Missense_Mutation_p.G72D|CHODL_ENST00000400131.1_Missense_Mutation_p.G72D|CHODL_ENST00000400135.1_Missense_Mutation_p.G72D|CHODL_ENST00000543733.1_Missense_Mutation_p.G94D|CHODL_ENST00000338326.3_Missense_Mutation_p.G72D|CHODL_ENST00000400128.1_Missense_Mutation_p.G72D	p.G113D	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	WXS	Illumina GAIIx	Phase_I	Q9H9P2	CHODL_HUMAN		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)	2	729	+		all_epithelial(11;0.21)	113			C-type lectin.		B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Missense_Mutation	SNP	ENST00000299295.2	37	c.338G>A	CCDS13570.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809042	0.70797	.	.	ENSG00000154645	ENST00000400128;ENST00000400131;ENST00000400135;ENST00000400127;ENST00000299295;ENST00000338326;ENST00000543733	T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24	5.69	5.69	0.88448	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.308331	0.39341	N	0.001392	T	0.32255	0.0823	L	0.58101	1.795	0.43647	D	0.996058	P;B;P	0.49961	0.801;0.051;0.93	P;B;P	0.52909	0.522;0.045;0.713	T	0.00380	-1.1776	9	.	.	.	-21.4045	18.8097	0.92053	0.0:0.0:1.0:0.0	.	113;94;72	Q9H9P2;B4DJB8;Q9H9P2-3	CHODL_HUMAN;.;.	D	72;72;72;72;113;72;94	ENSP00000382993:G72D;ENSP00000382996:G72D;ENSP00000383001:G72D;ENSP00000382992:G72D;ENSP00000299295:G113D;ENSP00000339975:G72D;ENSP00000443566:G94D	.	G	+	2	0	CHODL	18550955	0.773000	0.28580	1.000000	0.80357	0.966000	0.64601	3.513000	0.53414	2.679000	0.91253	0.650000	0.86243	GGT		0.507	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158232.1	NM_024944		45	61	0	0	0	1	0	45	61					A	19629084	G	A	19629084	3	1	21	1	0	0	0	0	1	0	0	0	3366	1261	44	3	344	3	CHODL	21	19629084	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08		19629084	28500811	822	2247										
KRTAP13-4	284827	broad.mit.edu	37	chr21	31802764	31802764	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgtcagaagacctgctgggaGcccgccagctgccagaaatc	12	13	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:31802764G>T	ENST00000334068.2	+	1	193	c.171G>T	c.(169-171)gaG>gaT	p.E57D		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	57	4 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CCTGCTGGGAGCCCGCCAGCT	0.617																																					NSCLC(196;2401 3038 18004 35753)	ENST00000334068.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						c.(169-171)gaG>gaT		keratin associated protein 13-4							59	59	59					21																	31802764		2203	4300	6503	SO:0001583	missense	284827					intermediate filament		g.chr21:31802764G>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.171G>T	21.37:g.31802764G>T	ENSP00000334834:p.Glu57Asp		Somatic					p.E57D	NM_181600.1	NP_853631.1	WXS	Illumina GAIIx	Phase_I	Q3LI77	KR134_HUMAN			1	193	+			57			4 X 10 AA approximate repeats.		A2RRL3	Missense_Mutation	SNP	ENST00000334068.2	37	c.171G>T	CCDS13592.1	.	.	.	.	.	.	.	.	.	.	-	12.30	1.897267	0.33535	.	.	ENSG00000186971	ENST00000334068	T	0.08458	3.09	4.95	3.12	0.35913	.	1.106130	0.07034	N	0.828890	T	0.16257	0.0391	M	0.82823	2.61	0.19945	N	0.99994	B	0.22746	0.074	B	0.24701	0.055	T	0.29458	-1.0011	10	0.56958	D	0.05	.	8.2375	0.31636	0.1904:0.0:0.8096:0.0	.	57	Q3LI77	KR134_HUMAN	D	57	ENSP00000334834:E57D	ENSP00000334834:E57D	E	+	3	2	KRTAP13-4	30724635	0.453000	0.25721	0.172000	0.22920	0.054000	0.15201	0.751000	0.26348	0.739000	0.32628	0.650000	0.86243	GAG		0.617	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			40	38	1	0	1.96642e-18	1	2.15299e-18	40	38					T	31802764	G	T	31802764	3	4	21	1	0	0	0	0	1	0	0	0	8534	962	34	5	173	5	KRTAP13-4	21	31802764	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	12173680	31802764	16327131	823	2248										
SFRS15	57466	broad.mit.edu	37	chr21	33068894	33068896	+	In_Frame_Del	DEL	GGA	GGA	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aaactaacaatggtgcctgtGgaggaggaggagaggcagca							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:33068894_33068896delGGA	ENST00000286835.7	-	8	1327_1329	c.945_947delTCC	c.(943-948)cctcca>cca	p.315_316PP>P	SCAF4_ENST00000434667.3_In_Frame_Del_p.300_301PP>P|SCAF4_ENST00000399804.1_In_Frame_Del_p.315_316PP>P	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	315	Poly-Pro.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGGTGCCTGTGGAGGAGGAGGAG	0.512																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(943-948)cca>cc		SR-related CTD-associated factor 4			,,	3,4261		0,3,2129					,,	0.8	1			48	3,8251		0,3,4124	no	coding,coding,coding	SCAF4	NM_020706.2,NM_001145445.1,NM_001145444.1	,,	0,6,6253	A1A1,A1R,RR		0.0363,0.0704,0.0479	,,	,,		6,12512				SO:0001651	inframe_deletion	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33068894_33068896delGGA	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.945_947delTCC	21.37:g.33068903_33068905delGGA	ENSP00000286835:p.Pro316del		Somatic				SCAF4_ENST00000434667.3_In_Frame_Del_p.PP300del|SCAF4_ENST00000399804.1_In_Frame_Del_p.PP315del	p.PP315del	NM_020706.2	NP_065757.1	WXS	Illumina GAIIx	Phase_I	O95104	SFR15_HUMAN			8	1327_1329	-			315			Poly-Pro.		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	In_Frame_Del	DEL	ENST00000286835.7	37	c.945_947delTCC	CCDS33537.1																																																																																				0.512	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		20	38						20	38	---	---	---	---	-	33068896	GGA	-	33068894	7	5	21	1	0	1	0	1	0	0	0	0	14186	1348	47	0	2548	0	SFRS15	21	33068894	In_Frame_Del	DEL	GGA	TCGA-N7-A4Y0-01A-12D-A28R-08	1266130	33068894	15061001	824	2249										
BRWD1	54014	broad.mit.edu	37	chr21	40574467	40574467	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttttaacctcttcggcttgaGgtttctggccaaacatatga	8	9	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:40574467G>T	ENST00000333229.2	-	38	4696	c.4369C>A	c.(4369-4371)Ctc>Atc	p.L1457I	BRWD1_ENST00000342449.3_Missense_Mutation_p.L1457I|BRWD1_ENST00000380800.3_Missense_Mutation_p.L1457I	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1457					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)				TTCGGCTTGAGGTTTCTGGCC	0.358																																					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.(4369-4371)Ctc>Atc		bromodomain and WD repeat domain containing 1							48	45	46					21																	40574467		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40574467G>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.4369C>A	21.37:g.40574467G>T	ENSP00000330753:p.Leu1457Ile		Somatic				BRWD1_ENST00000333229.2_Missense_Mutation_p.L1457I|BRWD1_ENST00000380800.3_Missense_Mutation_p.L1457I	p.L1457I	NM_033656.3	NP_387505.1	WXS	Illumina GAIIx	Phase_I	Q9NSI6	BRWD1_HUMAN			38	4447	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1457					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.4369C>A	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.067|4.067	0.010240|0.010240	0.07912|0.07912	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783|ENST00000424441	T;T;T|.	0.55234|.	0.53;0.56;0.63|.	5.27|5.27	-2.98|-2.98	0.05513|0.05513	.|.	1.667930|.	0.03055|.	N|.	0.155132|.	T|T	0.08088|0.08088	0.0202|0.0202	N|N	0.01482|0.01482	-0.84|-0.84	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B|.	0.06786|.	0.001;0.0;0.0|.	B;B;B|.	0.09377|.	0.004;0.001;0.0|.	T|T	0.35425|0.35425	-0.9789|-0.9789	10|5	0.21540|.	T|.	0.41|.	1.7109|1.7109	4.5014|4.5014	0.11865|0.11865	0.1047:0.423:0.3154:0.157|0.1047:0.423:0.3154:0.157	.|.	1457;1457;1457|.	Q9NSI6-3;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	I|H	1457;1457;1457;413|394	ENSP00000330753:L1457I;ENSP00000344333:L1457I;ENSP00000370178:L1457I|.	ENSP00000330753:L1457I|.	L|P	-|-	1|2	0|0	BRWD1|BRWD1	39496337|39496337	0.004000|0.004000	0.15560|0.15560	0.902000|0.902000	0.35471|0.35471	0.423000|0.423000	0.31445|0.31445	-0.677000|-0.677000	0.05215|0.05215	-0.188000|-0.188000	0.10499|0.10499	-0.262000|-0.262000	0.10625|0.10625	CTC|CCT		0.358	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		12	19	1	0	3.07112e-06	1	3.17614e-06	12	19					T	40574467	G	T	40574467	3	4	21	1	0	0	0	0	1	0	0	0	1527	1000	35	5	2852	5	BRWD1	21	40574467	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	7505573	40574467	7555428	825	2250										
TRPM2	7226	broad.mit.edu	37	chr21	45810891	45810891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cccgcagtgagatcttcatgGatgagtggcagtggaaggta	15	7	2	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:45810891G>A	ENST00000397928.1	+	10	1868	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	TRPM2_ENST00000300482.5_Missense_Mutation_p.D475N|TRPM2_ENST00000397932.2_Missense_Mutation_p.D475N|TRPM2_ENST00000300481.9_Missense_Mutation_p.D475N|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	475					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GATCTTCATGGATGAGTGGCA	0.582																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(1423-1425)Gat>Aat		transient receptor potential cation channel, subfamily M, member 2							137	128	131					21																	45810891		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45810891G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1423G>A	21.37:g.45810891G>A	ENSP00000381023:p.Asp475Asn		Somatic				TRPM2_ENST00000300481.9_Missense_Mutation_p.D475N|TRPM2_ENST00000397932.2_Missense_Mutation_p.D475N|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.D475N	p.D475N	NM_003307.3	NP_003298.1	WXS	Illumina GAIIx	Phase_I	O94759	TRPM2_HUMAN			10	1868	+			475					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1423G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362671	0.24684	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	4.6	4.6	0.57074	.	0.056585	0.64402	D	0.000001	T	0.26774	0.0655	L	0.36672	1.1	0.58432	D	0.999998	B;B	0.29766	0.256;0.256	B;B	0.25614	0.062;0.051	T	0.08351	-1.0726	10	0.06236	T	0.91	-25.0171	17.8022	0.88591	0.0:0.0:1.0:0.0	.	475;475	E9PGK7;O94759	.;TRPM2_HUMAN	N	475	ENSP00000300482:D475N;ENSP00000381023:D475N;ENSP00000300481:D475N;ENSP00000381026:D475N	ENSP00000300481:D475N	D	+	1	0	TRPM2	44635319	1.000000	0.71417	0.620000	0.29132	0.926000	0.56050	5.546000	0.67243	2.282000	0.76494	0.655000	0.94253	GAT		0.582	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		58	57	0	0	0	1	0	58	57					A	45810891	G	A	45810891	3	1	21	1	0	0	0	0	1	0	0	0	16601	1174	41	3	1461	3	TRPM2	21	45810891	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	5236424	45810891	2319004	826	2251										
KRTAP10-4	386672	broad.mit.edu	37	chr21	45994016	45994016	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aagcctgtgtgctgtgtgccCgtctgctgtggggattcttc	14	10	2	0	rs587723481	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:45994016C>A	ENST00000400374.3	+	1	411	c.381C>A	c.(379-381)ccC>ccA	p.P127P	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	127	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						GCTGTGTGCCCGTCTGCTGTG	0.647																																						ENST00000400374.3																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(379-381)ccC>ccA		keratin associated protein 10-4							178	158	165					21																	45994016		2202	4298	6500	SO:0001819	synonymous_variant	386672					keratin filament		g.chr21:45994016C>A	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.381C>A	21.37:g.45994016C>A			Somatic				TSPEAR_ENST00000323084.4_Intron	p.P127P	NM_198687.1	NP_941960.1	WXS	Illumina GAIIx	Phase_I	P60372	KR104_HUMAN			1	411	+			127			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Silent	SNP	ENST00000400374.3	37	c.381C>A	CCDS42957.1																																																																																				0.647	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		20	210	1	0	2.94398e-08	1	3.08099e-08	20	210					A	45994016	C	A	45994016	2	1	21	1	0	0	0	0	0	0	0	1	8520	639	23	5		5	KRTAP10-4	21	45994016	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	183125	45994016	2135879	827	2252										
MCM3AP	8888	broad.mit.edu	37	chr21	47662805	47662805	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tattttttcaaatcgtttttAaaaaaatacacacatatctg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:47662805delA	ENST00000397708.1	-	26	5591	c.5337delT	c.(5335-5337)tttfs	p.F1779fs	MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.F1779fs|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1779	Acetyltransferase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.K1780fs*5(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AATCGTTTTTAAAAAAATACA	0.433																																						ENST00000397708.1																			1	Insertion - Frameshift(1)	p.K1780fs*5(1)	ovary(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(5335-5337)ttfs		minichromosome maintenance complex component 3 associated protein							86	82	83					21																	47662805		2203	4300	6503	SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47662805delA	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.5337delT	21.37:g.47662805delA	ENSP00000380820:p.Phe1779fs		Somatic				MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.F1779fs|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA	p.F1779fs			WXS	Illumina GAIIx	Phase_I	O60318	MCM3A_HUMAN			26	5591	-	Breast(49;0.112)		1779					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Del	DEL	ENST00000397708.1	37	c.5337delT	CCDS13734.1																																																																																				0.433	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		45	75						45	75	---	---	---	---	-	47662805	A	-	47662805	7	5	21	1	0	1	0	1	0	0	0	0	9397	359	13	0	621	0	MCM3AP	21	47662805	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	1668789	47662805	467090	828	2253										
MICAL3	57553	broad.mit.edu	37	chr22	18364029	18364029	+	Intron	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggggaggagacagggtgatcActtttttggggcaggtccga	18	6	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:18364029A>T	ENST00000441493.2	-	16	2594				MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.V761E|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000429452.1_Missense_Mutation_p.V761E	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						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)		CAGGGTGATCACTTTTTTGGG	0.542																																						ENST00000429452.1																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(2281-2283)gTg>gAg		microtubule associated monooxygenase, calponin and LIM domain containing 3							158	155	156					22																	18364029		1568	3582	5150	SO:0001627	intron_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18364029A>T	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.2241+4614T>A	22.37:g.18364029A>T			Somatic				MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.V761E|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000207726.7_Intron	p.V761E	NM_001136004.1	NP_001129476.1	WXS	Illumina GAIIx	Phase_I	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	17	2634	-		all_epithelial(15;0.198)	1248					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.2282T>A	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.450922	0.26074	.	.	ENSG00000093100	ENST00000429452	T	0.68181	-0.31	5.56	5.56	0.83823	.	.	.	.	.	T	0.46405	0.1391	.	.	.	0.27971	N	0.9364	P	0.37781	0.608	B	0.37943	0.261	T	0.37126	-0.9719	8	0.02654	T	1	.	14.2835	0.66228	1.0:0.0:0.0:0.0	.	761	B2RXJ5	.	E	761	ENSP00000414846:V761E	ENSP00000414846:V761E	V	-	2	0	XXbac-B461K10.4	16744029	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.904000	0.63279	2.108000	0.64289	0.533000	0.62120	GTG		0.542	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			81	98	0	0	0	1	0	81	98					T	18364029	A	T	18364029	1	4	21	0	1	0	0	0	0	0	0	0	9580	159	6	4		4	MICAL3	22	18364029	Intron	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08		18364029	32940537	829	2254										
TUBA8	51807	broad.mit.edu	37	chr22	18609160	18609161	+	Frame_Shift_Del	DEL	CA	CA	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgcagggcttcctgattttcCacagttttggtgggggcact					rs572043266	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:18609160_18609161delCA	ENST00000330423.3	+	4	488_489	c.415_416delCA	c.(415-417)cacfs	p.H139fs	TUBA8_ENST00000316027.6_Frame_Shift_Del_p.H73fs	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	139					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CCTGATTTTCCACAGTTTTGGT	0.52														3	0.000599042	0	0	5008	,	,		17866	0		0.001	False		,,,				2504	0.002					ENST00000330423.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(415-417)cfs		tubulin, alpha 8																																				SO:0001589	frameshift_variant	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18609160_18609161delCA	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"Tubulins"	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.415_416delCA	22.37:g.18609162_18609163delCA	ENSP00000333326:p.His139fs		Somatic				TUBA8_ENST00000316027.6_Frame_Shift_Del_p.H73fs	p.H139fs	NM_018943.2	NP_061816.1	WXS	Illumina GAIIx	Phase_I	Q9NY65	TBA8_HUMAN			4	488_489	+			139					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Frame_Shift_Del	DEL	ENST00000330423.3	37	c.415_416delCA	CCDS13751.1																																																																																				0.52	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		65	135						65	135	---	---	---	---	-	18609161	CA	-	18609160	7	5	21	1	0	1	0	1	0	0	0	0	16765	594	21	0	429	0	TUBA8	22	18609160	Frame_Shift_Del	DEL	CA	TCGA-N7-A4Y0-01A-12D-A28R-08	245131	18609160	32695406	830	2255										
CLDN5	7122	broad.mit.edu	37	chr22	19511475	19511475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cacgcaggtggtgcactgcgCgcccgccagggtcacgaaga	15	14	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:19511475C>T	ENST00000406028.1	-	2	1619	c.559G>A	c.(559-561)Gcg>Acg	p.A187T	CLDN5_ENST00000403084.1_Missense_Mutation_p.A187T|CLDN5_ENST00000413119.2_Missense_Mutation_p.A187T			O00501	CLD5_HUMAN	claudin 5	102					calcium-independent cell-cell adhesion (GO:0016338)|myelination (GO:0042552)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					GTGCACTGCGCGCCCGCCAGG	0.736																																						ENST00000406028.1																			0				liver(1)|lung(2)|prostate(1)	4						c.(559-561)Gcg>Acg		claudin 5							7	8	8					22																	19511475		2165	4211	6376	SO:0001583	missense	7122				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr22:19511475C>T	AF000959	CCDS13763.2	22q11.21	2008-08-01	2008-08-01		ENSG00000184113	ENSG00000184113		"Claudins"	2047	protein-coding gene	gene with protein product		602101	"transmembrane protein deleted in velocardiofacial syndrome"	AWAL, TMVCF		9441748, 9192844	Standard	NM_003277		Approved	CPETRL1, BEC1	uc002zpu.2	O00501	OTTHUMG00000150441	ENST00000406028.1:c.559G>A	22.37:g.19511475C>T	ENSP00000385477:p.Ala187Thr		Somatic				CLDN5_ENST00000403084.1_Missense_Mutation_p.A187T|CLDN5_ENST00000413119.2_Missense_Mutation_p.A187T	p.A187T			WXS	Illumina GAIIx	Phase_I	O00501	CLD5_HUMAN			2	1619	-	Colorectal(54;0.0993)		102					B3KS11|Q53XW2|Q8WUW3	Missense_Mutation	SNP	ENST00000406028.1	37	c.559G>A	CCDS13763.2	.	.	.	.	.	.	.	.	.	.	C	36	5.785029	0.96937	.	.	ENSG00000184113	ENST00000406028;ENST00000403084;ENST00000413119	D;D;D	0.88664	-2.41;-2.41;-2.41	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.94503	0.8230	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.94767	0.7941	10	0.52906	T	0.07	.	17.184	0.86862	0.0:1.0:0.0:0.0	.	187	D3DX19	.	T	187	ENSP00000385477:A187T;ENSP00000384554:A187T;ENSP00000400612:A187T	ENSP00000384554:A187T	A	-	1	0	CLDN5	17891475	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.016000	0.57159	2.315000	0.78130	0.462000	0.41574	GCG		0.736	CLDN5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318122.3	NM_003277		8	8	0	0	0	1	0	8	8					T	19511475	C	T	19511475	3	4	21	1	0	0	0	0	1	0	0	0	3490	768	27	1	356	1	CLDN5	22	19511475	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	902315	19511475	31793091	831	2256										
GNB1L	54584	broad.mit.edu	37	chr22	19776481	19776481	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtgagttcatgagtcccacgCacctgtgagagttgggagag	15	8	1	4			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:19776481C>G	ENST00000329517.6	-	8	971	c.735G>C	c.(733-735)gtG>gtC	p.V245V	GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Silent_p.V245V	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	245					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					GAGTCCCACGCACCTGTGAGA	0.642																																						ENST00000329517.6																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12						c.(733-735)gtG>gtC		guanine nucleotide binding protein (G protein), beta polypeptide 1-like							51	55	54					22																	19776481		2202	4300	6502	SO:0001819	synonymous_variant	0				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19776481C>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.735G>C	22.37:g.19776481C>G			Somatic				GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Silent_p.V245V	p.V245V	NM_053004.2	NP_443730.1	WXS	Illumina GAIIx	Phase_I	Q9BYB4	GNB1L_HUMAN			8	971	-	Colorectal(54;0.0993)		245					Q9H2S2|Q9H4M4	Silent	SNP	ENST00000329517.6	37	c.735G>C	CCDS13768.1																																																																																				0.642	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			26	58	0	0	0	1	0	26	58					G	19776481	C	G	19776481	2	3	21	1	0	0	0	0	0	0	0	1	6524	697	25	5		5	GNB1L	22	19776481	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	265006	19776481	31528085	832	2257										
ARVCF	421	broad.mit.edu	37	chr22	19959451	19959451	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcctctcctgcagagctggcGccccgtggcctccgctccct	11	20	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:19959451G>A	ENST00000263207.3	-	18	3030	c.2739C>T	c.(2737-2739)ggC>ggT	p.G913G	ARVCF_ENST00000406259.1_Silent_p.G907G|ARVCF_ENST00000401994.1_Silent_p.G850G|ARVCF_ENST00000406522.1_Silent_p.G844G|ARVCF_ENST00000344269.3_Silent_p.G850G	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	913					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CAGAGCTGGCGCCCCGTGGCC	0.652																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(2737-2739)ggC>ggT		armadillo repeat gene deleted in velocardiofacial syndrome							81	75	77					22																	19959451		2203	4300	6503	SO:0001819	synonymous_variant	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19959451G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2739C>T	22.37:g.19959451G>A			Somatic				ARVCF_ENST00000344269.3_Silent_p.G850G|ARVCF_ENST00000406522.1_Silent_p.G844G|ARVCF_ENST00000406259.1_Silent_p.G907G|ARVCF_ENST00000401994.1_Silent_p.G850G	p.G913G	NM_001670.2	NP_001661.1	WXS	Illumina GAIIx	Phase_I	O00192	ARVC_HUMAN			18	3030	-	Colorectal(54;0.0993)		913					B7WNV2	Silent	SNP	ENST00000263207.3	37	c.2739C>T	CCDS13771.1																																																																																				0.652	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		22	40	0	0	0	1	0	22	40					A	19959451	G	A	19959451	2	1	21	1	0	0	0	0	0	0	0	1	1003	1074	38	1		1	ARVCF	22	19959451	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	182970	19959451	31345115	833	2258										
THAP7	80764	broad.mit.edu	37	chr22	21354970	21354970	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tctgagccggctgacttcagCggggccaggtgggtaactgt					rs426938	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:21354970delC	ENST00000215742.4	-	3	517	c.343delG	c.(343-345)gctfs	p.A115fs	THAP7-AS1_ENST00000429962.1_RNA|THAP7-AS1_ENST00000452284.1_RNA|THAP7_ENST00000399133.2_Frame_Shift_Del_p.A115fs|THAP7-AS1_ENST00000436079.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	115			A -> P (in dbSNP:rs426938). {ECO:0000269|PubMed:15461802, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.		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)	p.A115P(1)		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)			CTGACTTCAGCGGGGCCAGGT	0.602																																						ENST00000215742.4																			1	Substitution - Missense(1)	p.A115P(1)	stomach(1)	cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8						c.(343-345)ctfs		THAP domain containing 7							115	107	110					22																	21354970		2203	4300	6503	SO:0001589	frameshift_variant	80764				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding	g.chr22:21354970delC	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.343delG	22.37:g.21354970delC	ENSP00000215742:p.Ala115fs		Somatic				THAP7_ENST00000399133.2_Frame_Shift_Del_p.A115fs	p.A115fs	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	517	-	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)	115		A -> P (in dbSNP:rs426938).			B2RD97|D3DX40	Frame_Shift_Del	DEL	ENST00000215742.4	37	c.343delG	CCDS13787.1																																																																																				0.602	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1	NM_030573		85	120						85	120	---	---	---	---	-	21354970	C	-	21354970	7	5	21	1	0	1	0	1	0	0	0	0	15864	768	27	0	594	0	THAP7	22	21354970	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1395519	21354970	29949596	834	2259										
GGT5	2687	broad.mit.edu	37	chr22	24627387	24627387	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggataaagctgagaatggcaCcccctgcaggcggcggtggt							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:24627387delC	ENST00000327365.4	-	6	1282	c.866delG	c.(865-867)ggtfs	p.G289fs	GGT5_ENST00000263112.7_Frame_Shift_Del_p.G257fs|GGT5_ENST00000418439.2_Frame_Shift_Del_p.G212fs|GGT5_ENST00000398292.3_Frame_Shift_Del_p.G289fs	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	289					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GAGAATGGCACCCCCTGCAGG	0.677																																						ENST00000327365.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(865-867)gtfs		gamma-glutamyltransferase 5							17	15	16					22																	24627387		2155	4242	6397	SO:0001589	frameshift_variant	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24627387delC	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.866delG	22.37:g.24627387delC	ENSP00000330080:p.Gly289fs		Somatic				GGT5_ENST00000418439.2_Frame_Shift_Del_p.G212fs|GGT5_ENST00000263112.7_Frame_Shift_Del_p.G257fs|GGT5_ENST00000398292.3_Frame_Shift_Del_p.G289fs	p.G289fs	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	WXS	Illumina GAIIx	Phase_I	P36269	GGT5_HUMAN			6	1282	-			289					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Frame_Shift_Del	DEL	ENST00000327365.4	37	c.866delG	CCDS13825.1																																																																																				0.677	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		2	4						2	4	---	---	---	---	-	24627387	C	-	24627387	7	5	21	1	0	1	0	1	0	0	0	0	6370	507	18	0	925	0	GGT5	22	24627387	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3272417	24627387	26677179	835	2260										
CCDC157	550631	broad.mit.edu	37	chr22	30771603	30771603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggaggagaacgggcggctccAatcaatgctgtccaaaatcc	12	11	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:30771603A>G	ENST00000405659.1	+	10	2517	c.1808A>G	c.(1807-1809)cAa>cGa	p.Q603R	RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Missense_Mutation_p.Q603R			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	603										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GGGCGGCTCCAATCAATGCTG	0.617																																						ENST00000405659.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						c.(1807-1809)cAa>cGa		coiled-coil domain containing 157							61	57	58					22																	30771603		2203	4300	6503	SO:0001583	missense	550631							g.chr22:30771603A>G	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.1808A>G	22.37:g.30771603A>G	ENSP00000385357:p.Gln603Arg		Somatic				CCDC157_ENST00000338306.3_Missense_Mutation_p.Q603R|RP1-130H16.16_ENST00000332468.4_RNA	p.Q603R			WXS	Illumina GAIIx	Phase_I	Q569K6	CC157_HUMAN			10	2517	+			603					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.1808A>G	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	A	13.06	2.123854	0.37436	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.77098	-1.07;-1.07	5.24	-0.266	0.12942	.	0.663319	0.14655	N	0.306378	T	0.46698	0.1406	N	0.03050	-0.425	0.33183	D	0.549875	B	0.06786	0.001	B	0.08055	0.003	T	0.46721	-0.9171	10	0.07175	T	0.84	-9.254	8.2082	0.31467	0.3682:0.0:0.6318:0.0	.	603	Q569K6	CC157_HUMAN	R	603	ENSP00000385357:Q603R;ENSP00000343087:Q603R	ENSP00000343087:Q603R	Q	+	2	0	CCDC157	29101603	0.000000	0.05858	0.167000	0.22817	0.870000	0.49936	-0.093000	0.11111	-0.171000	0.10797	0.533000	0.62120	CAA		0.617	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		26	34	0	0	0	1	0	26	34					G	30771603	A	G	30771603	3	3	21	1	0	0	0	0	1	0	0	0	2791	130	5	4	1838	4	CCDC157	22	30771603	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	6144216	30771603	20532963	836	2261										
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31836101	31836101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gggaaccagagcctggaggaTgcagaactgtggagataaga	16	6	0	4			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:31836101T>C	ENST00000397525.1	-	19	2946	c.2723A>G	c.(2722-2724)cAt>cGt	p.H908R	EIF4ENIF1_ENST00000441289.1_5'Flank|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.H884R|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.H734R|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.H908R|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.H563R	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	908						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCCTGGAGGATGCAGAACTGT	0.512																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2722-2724)cAt>cGt		eukaryotic translation initiation factor 4E nuclear import factor 1							48	49	48					22																	31836101		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31836101T>C	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2723A>G	22.37:g.31836101T>C	ENSP00000380659:p.His908Arg		Somatic				EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.H563R|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.H884R|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.H734R|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.H908R	p.H908R	NM_001164501.1	NP_001157973.1	WXS	Illumina GAIIx	Phase_I	Q9NRA8	4ET_HUMAN			19	2946	-			908					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.2723A>G	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.523725	0.44866	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	T	0.52273	0.1724	L	0.45581	1.43	0.40281	D	0.978392	P;P;B;D	0.53885	0.651;0.651;0.003;0.963	B;B;B;P	0.46796	0.15;0.107;0.006;0.527	T	0.54118	-0.8341	9	0.40728	T	0.16	-16.2314	14.1353	0.65284	0.0:0.0:0.0:1.0	.	734;908;733;884	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	R	734;908;908;884;563	.	ENSP00000328103:H908R	H	-	2	0	EIF4ENIF1	30166101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.867000	0.48428	2.281000	0.76405	0.533000	0.62120	CAT		0.512	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		44	60	0	0	0	1	0	44	60					C	31836101	T	C	31836101	3	2	21	1	0	0	0	0	1	0	0	0	5037	1464	51	4	238	4	EIF4ENIF1	22	31836101	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1064498	31836101	19468465	837	2262										
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31838994	31838994	+	Frame_Shift_Del	DEL	T	T	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttactgtcaccaagagctgcTtttccagatgctggctcctc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:31838994delT	ENST00000397525.1	-	16	2383	c.2160delA	c.(2158-2160)aaafs	p.K720fs	EIF4ENIF1_ENST00000397523.1_Frame_Shift_Del_p.K696fs|EIF4ENIF1_ENST00000344710.5_Frame_Shift_Del_p.K546fs|EIF4ENIF1_ENST00000330125.5_Frame_Shift_Del_p.K720fs|EIF4ENIF1_ENST00000382180.2_Frame_Shift_Del_p.K375fs	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	720						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAAGAGCTGCTTTTCCAGATG	0.463																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2158-2160)aafs		eukaryotic translation initiation factor 4E nuclear import factor 1							179	156	163					22																	31838994		2203	4300	6503	SO:0001589	frameshift_variant	56478					nucleus	protein binding|protein transporter activity	g.chr22:31838994delT	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2160delA	22.37:g.31838994delT	ENSP00000380659:p.Lys720fs		Somatic				EIF4ENIF1_ENST00000344710.5_Frame_Shift_Del_p.K546fs|EIF4ENIF1_ENST00000397523.1_Frame_Shift_Del_p.K696fs|EIF4ENIF1_ENST00000330125.5_Frame_Shift_Del_p.K720fs|EIF4ENIF1_ENST00000382180.2_Frame_Shift_Del_p.K375fs	p.K720fs	NM_001164501.1	NP_001157973.1	WXS	Illumina GAIIx	Phase_I	Q9NRA8	4ET_HUMAN			16	2383	-			720					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Frame_Shift_Del	DEL	ENST00000397525.1	37	c.2160delA	CCDS13898.1																																																																																				0.463	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		74	82						74	82	---	---	---	---	-	31838994	T	-	31838994	7	5	21	1	0	1	0	1	0	0	0	0	5037	1606	56	0	813	0	EIF4ENIF1	22	31838994	Frame_Shift_Del	DEL	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2893	31838994	19465572	838	2263										
C22orf24	25775	broad.mit.edu	37	chr22	32330115	32330117	+	In_Frame_Del	DEL	AGA	AGA	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggctggctgtcaggactcggAgaagatgttgctaatgtaag							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:32330115_32330117delAGA	ENST00000248984.3	-	3	636_638	c.470_472delTCT	c.(469-474)ttctcc>tcc	p.F157del	C22orf24_ENST00000543051.1_In_Frame_Del_p.F224del|C22orf24_ENST00000486651.1_5'UTR	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN	chromosome 22 open reading frame 24	157						integral component of membrane (GO:0016021)				central_nervous_system(1)|urinary_tract(1)	2						CAGGACTCGGAGAAGATGTTGCT	0.571																																						ENST00000248984.3																			0				central_nervous_system(1)|urinary_tract(1)	2						c.(469-474)tcc>t		chromosome 22 open reading frame 24																																				SO:0001651	inframe_deletion	25775					integral to membrane		g.chr22:32330115_32330117delAGA		CCDS46693.1	22q12.1-q12.3	2004-05-05			ENSG00000128254	ENSG00000128254			23051	protein-coding gene	gene with protein product							Standard	XM_005261497		Approved	HSN44A4A	uc003aly.3	Q9Y442	OTTHUMG00000030834	ENST00000248984.3:c.470_472delTCT	22.37:g.32330118_32330120delAGA	ENSP00000248984:p.Phe157del		Somatic				C22orf24_ENST00000543051.1_In_Frame_Del_p.FS224del|C22orf24_ENST00000486651.1_5'UTR	p.FS157del	NM_015372.1	NP_056187.1	WXS	Illumina GAIIx	Phase_I	Q9Y442	CV024_HUMAN			3	636_638	-			157					B2RCT4|Q5K3R1	In_Frame_Del	DEL	ENST00000248984.3	37	c.470_472delTCT	CCDS46693.1																																																																																				0.571	C22orf24-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075722.2	NM_015372		13	21						13	21	---	---	---	---	-	32330117	AGA	-	32330115	7	5	21	1	0	1	0	1	0	0	0	0	2140	304	11	0	14	0	C22orf24	22	32330115	In_Frame_Del	DEL	AGA	TCGA-N7-A4Y0-01A-12D-A28R-08	491121	32330115	18974451	839	2264										
NPTXR	23467	broad.mit.edu	37	chr22	39222592	39222592	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccgggcactgagtaggagaaGggggtgccctggccggtgcc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:39222592delG	ENST00000333039.2	-	3	1134	c.1011delC	c.(1009-1011)cccfs	p.P337fs		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	337	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AGTAGGAGAAGGGGGTGCCCT	0.652																																					Pancreas(139;2521 3281 36965)	ENST00000333039.2																			0				central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1009-1011)ccfs		neuronal pentraxin receptor							68	65	66					22																	39222592		2203	4300	6503	SO:0001589	frameshift_variant	23467					integral to membrane	metal ion binding	g.chr22:39222592delG	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1011delC	22.37:g.39222592delG	ENSP00000327545:p.Pro337fs		Somatic					p.P337fs	NM_014293.3	NP_055108.2	WXS	Illumina GAIIx	Phase_I	O95502	NPTXR_HUMAN			3	1134	-	Melanoma(58;0.04)		337			Pentaxin.			Frame_Shift_Del	DEL	ENST00000333039.2	37	c.1011delC	CCDS33647.1																																																																																				0.652	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293		68	107						68	107	---	---	---	---	-	39222592	G	-	39222592	7	5	21	1	0	1	0	1	0	0	0	0	10613	987	35	0	503	0	NPTXR	22	39222592	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	6892477	39222592	12081974	840	2265										
APOBEC3F	200316	broad.mit.edu	37	chr22	39441204	39441204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgagtcaggcaggggcccgcGtgaagattatggacgatgaa	16	7	1	4	rs199693357		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:39441204G>A	ENST00000308521.5	+	3	787	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	144					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)					AGGGGCCCGCGTGAAGATTAT	0.597													G|||	1	0.000199681	0	0	5008	,	,		16780	0		0.001	False		,,,				2504	0					ENST00000308521.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16						c.(430-432)Gtg>Atg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F		G	MET/VAL	0,4406		0,0,2203	43	45	45		430	-2.6	0	22		45	3,8597		0,3,4297	yes	missense	APOBEC3F	NM_145298.5	21	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	144/374	39441204	3,13003	2203	4300	6503	SO:0001583	missense	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.chr22:39441204G>A	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.430G>A	22.37:g.39441204G>A	ENSP00000309749:p.Val144Met		Somatic				APOBEC3G_ENST00000452957.2_Intron	p.V144M	NM_145298.5	NP_660341.2	WXS	Illumina GAIIx	Phase_I	Q9HC16	ABC3G_HUMAN			3	787	+	Melanoma(58;0.04)		149					B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	ENST00000308521.5	37	c.430G>A	CCDS33648.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	6.110	0.388635	0.11581	0.0	3.49E-4	ENSG00000128394	ENST00000308521	T	0.69685	-0.42	2.27	-2.57	0.06248	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.62295	0.2416	N	0.25380	0.74	0.09310	N	0.999997	D	0.76494	0.999	D	0.70487	0.969	T	0.55976	-0.8055	9	0.13470	T	0.59	.	7.1346	0.25521	0.1303:0.5839:0.2857:0.0	.	144	Q8IUX4	ABC3F_HUMAN	M	144	ENSP00000309749:V144M	ENSP00000309749:V144M	V	+	1	0	APOBEC3F	37771150	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.480000	0.06559	-0.367000	0.08052	0.400000	0.26472	GTG		0.597	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		36	51	0	0	0	1	0	36	51					A	39441204	G	A	39441204	3	1	21	1	0	0	0	0	1	0	0	0	793	1145	40	1	579	1	APOBEC3F	22	39441204	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	218612	39441204	11863362	841	2266										
MGAT3	4248	broad.mit.edu	37	chr22	39883622	39883622	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctgccgcccagcaaggcggcCgaggagctccaccgggtgga	16	15	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:39883622C>T	ENST00000341184.6	+	2	485	c.270C>T	c.(268-270)gcC>gcT	p.A90A		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	90					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCAAGGCGGCCGAGGAGCTCC	0.701																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(268-270)gcC>gcT		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							20	25	23					22																	39883622		2191	4280	6471	SO:0001819	synonymous_variant	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883622C>T	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.270C>T	22.37:g.39883622C>T			Somatic					p.A90A	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	WXS	Illumina GAIIx	Phase_I	Q09327	MGAT3_HUMAN			2	485	+	Melanoma(58;0.04)		90					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	c.270C>T	CCDS13994.2																																																																																				0.701	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		36	57	0	0	0	1	0	36	57					T	39883622	C	T	39883622	2	4	21	1	0	0	0	0	0	0	0	1	9553	639	23	1		1	MGAT3	22	39883622	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	442418	39883622	11420944	842	2267										
L3MBTL2	83746	broad.mit.edu	37	chr22	41612173	41612173	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cgaccaaaaaagccaaagtcCtgcacaaggctgcctggtct	9	13	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:41612173C>A	ENST00000216237.5	+	4	585	c.427C>A	c.(427-429)Ctg>Atg	p.L143M	L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	143					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						AGCCAAAGTCCTGCACAAGGC	0.557																																						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.(427-429)Ctg>Atg		l(3)mbt-like 2 (Drosophila)							65	54	58					22																	41612173		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.chr22:41612173C>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.427C>A	22.37:g.41612173C>A	ENSP00000216237:p.Leu143Met		Somatic				RP4-756G23.5_ENST00000451176.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000441316.1_RNA	p.L143M	NM_031488.4	NP_113676.2	WXS	Illumina GAIIx	Phase_I	Q969R5	LMBL2_HUMAN			4	585	+			143					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.427C>A	CCDS14011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.70|18.70	3.680411|3.680411	0.68042|0.68042	.|.	.|.	ENSG00000100395|ENSG00000100395	ENST00000216237|ENST00000449635	T|.	0.22336|.	1.96|.	5.67|5.67	3.58|3.58	0.41010|0.41010	.|.	0.267324|.	0.32987|.	N|.	0.005410|.	T|T	0.63450|0.63450	0.2512|0.2512	M|M	0.65975|0.65975	2.015|2.015	0.35220|0.35220	D|D	0.775925|0.775925	D;D|.	0.76494|.	0.999;0.997|.	D;D|.	0.87578|.	0.998;0.96|.	T|T	0.70769|0.70769	-0.4782|-0.4782	10|5	0.48119|.	T|.	0.1|.	.|.	10.001|10.001	0.41929|0.41929	0.0:0.7863:0.0:0.2137|0.0:0.7863:0.0:0.2137	.|.	143;143|.	Q969R5-3;Q969R5|.	.;LMBL2_HUMAN|.	M|H	143|90	ENSP00000216237:L143M|.	ENSP00000216237:L143M|.	L|P	+|+	1|2	2|0	L3MBTL2|L3MBTL2	39942119|39942119	0.917000|0.917000	0.31117|0.31117	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	1.497000|1.497000	0.35649|0.35649	1.376000|1.376000	0.46267|0.46267	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.557	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		13	25	1	0	5.50884e-06	1	5.67048e-06	13	25					A	41612173	C	A	41612173	3	1	21	1	0	0	0	0	1	0	0	0	8601	680	24	5	441	5	L3MBTL2	22	41612173	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1728551	41612173	9692393	843	2268										
RANGAP1	5905	broad.mit.edu	37	chr22	41654017	41654017	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caggttgatgacccgcagcaGggggttgacagcgaaagcct	15	10	0	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:41654017G>A	ENST00000455915.2	-	6	2178	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	RANGAP1_ENST00000356244.3_Silent_p.L237L|RANGAP1_ENST00000405486.1_Silent_p.L237L|RANGAP1_ENST00000407260.4_Silent_p.L182L			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	237					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCCGCAGCAGGGGGTTGACA	0.627																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(709-711)Ctg>Ttg		Ran GTPase activating protein 1							85	79	81					22																	41654017		2203	4300	6503	SO:0001819	synonymous_variant	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41654017G>A	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"segregation distorter homolog (Drosophila)"	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.709C>T	22.37:g.41654017G>A			Somatic				RANGAP1_ENST00000356244.3_Silent_p.L237L|RANGAP1_ENST00000405486.1_Silent_p.L237L|RANGAP1_ENST00000407260.4_Silent_p.L182L	p.L237L			WXS	Illumina GAIIx	Phase_I	P46060	RAGP1_HUMAN			6	2178	-			237					Q96JJ2	Silent	SNP	ENST00000455915.2	37	c.709C>T	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	G	3.647	-0.072377	0.07228	.	.	ENSG00000100401	ENST00000446258	T	0.53857	0.6	5.57	3.49	0.39957	.	.	.	.	.	T	0.53753	0.1816	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46830	-0.9163	5	.	.	.	-10.9765	8.7072	0.34363	0.2879:0.0:0.7121:0.0	.	.	.	.	L	132	ENSP00000393407:P132L	.	P	-	2	0	RANGAP1	39983963	0.125000	0.22332	1.000000	0.80357	0.321000	0.28281	0.463000	0.21972	0.720000	0.32209	-0.258000	0.10820	CCT		0.627	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		35	36	0	0	0	1	0	35	36					A	41654017	G	A	41654017	2	1	21	1	0	0	0	0	0	0	0	1	13048	991	35	3		3	RANGAP1	22	41654017	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	41844	41654017	9650549	844	2269										
TOB2	10766	broad.mit.edu	37	chr22	41833282	41833282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccccaaacaggtctgcccggCgccggggcagcttgttgtac	13	15	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:41833282C>T	ENST00000327492.3	-	2	774	c.68G>A	c.(67-69)cGc>cAc	p.R23H		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	23					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GTCTGCCCGGCGCCGGGGCAG	0.542																																						ENST00000327492.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(67-69)cGc>cAc		transducer of ERBB2, 2							35	40	39					22																	41833282		2203	4300	6503	SO:0001583	missense	10766				female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus		g.chr22:41833282C>T	D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.68G>A	22.37:g.41833282C>T	ENSP00000331305:p.Arg23His		Somatic					p.R23H	NM_016272.3	NP_057356.1	WXS	Illumina GAIIx	Phase_I	Q14106	TOB2_HUMAN			2	774	-			23					Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Missense_Mutation	SNP	ENST00000327492.3	37	c.68G>A	CCDS14015.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304949	0.60305	.	.	ENSG00000183864	ENST00000327492;ENST00000434408	T	0.52754	0.65	5.92	4.91	0.64330	Anti-proliferative protein (2);	0.000000	0.85682	D	0.000000	T	0.51483	0.1677	M	0.77103	2.36	0.80722	D	1	B	0.24882	0.113	B	0.20184	0.028	T	0.55528	-0.8127	10	0.87932	D	0	.	15.0674	0.72008	0.0:0.9322:0.0:0.0678	.	23	Q14106	TOB2_HUMAN	H	23	ENSP00000331305:R23H	ENSP00000331305:R23H	R	-	2	0	TOB2	40163228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	1.529000	0.49120	0.655000	0.94253	CGC		0.542	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1	NM_016272		39	38	0	0	0	1	0	39	38					T	41833282	C	T	41833282	3	4	21	1	0	0	0	0	1	0	0	0	16363	768	27	1	970	1	TOB2	22	41833282	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	179265	41833282	9471284	845	2270										
TCF20	6942	broad.mit.edu	37	chr22	42606139	42606139	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggctgcataatcttggggatAaaaaggtccaaagaggtcac							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:42606139delA	ENST00000359486.3	-	1	5309	c.5173delT	c.(5173-5175)tatfs	p.Y1725fs	TCF20_ENST00000404876.1_Frame_Shift_Del_p.Y26fs|TCF20_ENST00000335626.4_Frame_Shift_Del_p.Y1725fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1725					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						TCTTGGGGATAAAAAGGTCCA	0.502																																						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.(5173-5175)atfs		transcription factor 20 (AR1)							79	80	80					22																	42606139		2203	4300	6503	SO:0001589	frameshift_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42606139delA	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.5173delT	22.37:g.42606139delA	ENSP00000352463:p.Tyr1725fs		Somatic				TCF20_ENST00000335626.4_Frame_Shift_Del_p.Y1725fs|TCF20_ENST00000404876.1_Frame_Shift_Del_p.Y26fs	p.Y1725fs	NM_005650.1	NP_005641.1	WXS	Illumina GAIIx	Phase_I	Q9UGU0	TCF20_HUMAN			1	5309	-			1725					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Del	DEL	ENST00000359486.3	37	c.5173delT	CCDS14033.1																																																																																				0.502	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		59	78						59	78	---	---	---	---	-	42606139	A	-	42606139	7	5	21	1	0	1	0	1	0	0	0	0	15705	362	13	0	747	0	TCF20	22	42606139	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	772857	42606139	8698427	846	2271										
TTLL12	23170	broad.mit.edu	37	chr22	43570304	43570304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	agccagggtgggccctcgggGccacctgcccggcgcgcgat	17	16	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:43570304G>A	ENST00000216129.6	-	8	1203	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	TTLL12_ENST00000494035.1_5'Flank|TTLL12_ENST00000484118.1_5'UTR	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	380	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GGCCCTCGGGGCCACCTGCCC	0.657																																						ENST00000216129.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(1138-1140)ggC>ggT		tubulin tyrosine ligase-like family, member 12							48	55	52					22																	43570304		2202	4299	6501	SO:0001819	synonymous_variant	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43570304G>A	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1140C>T	22.37:g.43570304G>A			Somatic					p.G380G	NM_015140.3	NP_055955.1	WXS	Illumina GAIIx	Phase_I	Q14166	TTL12_HUMAN			8	1203	-		Ovarian(80;0.221)|Glioma(61;0.222)	380			TTL.		Q20WK5|Q9UGU3	Silent	SNP	ENST00000216129.6	37	c.1140C>T	CCDS14047.1																																																																																				0.657	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		67	124	0	0	0	1	0	67	124					A	43570304	G	A	43570304	2	1	21	1	0	0	0	0	0	0	0	1	16740	1190	42	3		3	TTLL12	22	43570304	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	964165	43570304	7734262	847	2272										
KIAA1644	85352	broad.mit.edu	37	chr22	44681537	44681537	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gaccttgcagatgtcgtagtTcattgccgagtaatacaaaa	9	8	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:44681537T>C	ENST00000381176.4	-	4	502	c.370A>G	c.(370-372)Aac>Gac	p.N124D		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	124						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				ATGTCGTAGTTCATTGCCGAG	0.557																																						ENST00000381176.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(370-372)Aac>Gac		KIAA1644							176	171	173					22																	44681537		2047	4209	6256	SO:0001583	missense	85352					integral to membrane		g.chr22:44681537T>C	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.370A>G	22.37:g.44681537T>C	ENSP00000370568:p.Asn124Asp		Somatic					p.N124D	NM_001099294.1	NP_001092764.1	WXS	Illumina GAIIx	Phase_I	Q3SXP7	K1644_HUMAN			4	502	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	124					A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	ENST00000381176.4	37	c.370A>G	CCDS43025.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.757220	0.89843	.	.	ENSG00000138944	ENST00000381176	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.61198	0.2328	L	0.32530	0.975	0.38678	D	0.952464	D	0.76494	0.999	D	0.83275	0.996	T	0.70483	-0.4859	8	0.56958	D	0.05	-28.6518	12.5508	0.56225	0.0:0.0:0.0:1.0	.	124	Q3SXP7	K1644_HUMAN	D	124	.	ENSP00000370568:N124D	N	-	1	0	KIAA1644	43012870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.135000	0.77276	1.900000	0.55004	0.459000	0.35465	AAC		0.557	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		26	266	0	0	0	1	0	26	266					C	44681537	T	C	44681537	3	2	21	1	0	0	0	0	1	0	0	0	8259	1783	62	4	237	4	KIAA1644	22	44681537	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1111233	44681537	6623029	848	2273										
IL17REL	400935	broad.mit.edu	37	chr22	50436618	50436618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcttacggcagccggcccccGgccccgggcgccagcacagg	15	19	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:50436618G>A	ENST00000389983.2	-	10	986	c.722C>T	c.(721-723)cCg>cTg	p.P241L	IL17REL_ENST00000341280.5_Missense_Mutation_p.P241L	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	241										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)		gccggcccccggccccgggcg	0.682																																						ENST00000389983.2																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(721-723)cCg>cTg		interleukin 17 receptor E-like							28	36	33					22																	50436618		2200	4292	6492	SO:0001583	missense	400935							g.chr22:50436618G>A	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.722C>T	22.37:g.50436618G>A	ENSP00000374633:p.Pro241Leu		Somatic				IL17REL_ENST00000341280.5_Missense_Mutation_p.P241L	p.P241L	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)	10	986	-		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)	241					A6NCN4|A6PVC1	Missense_Mutation	SNP	ENST00000389983.2	37	c.722C>T	CCDS33679.1	.	.	.	.	.	.	.	.	.	.	G	2.251	-0.371605	0.05034	.	.	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.13420	2.59;2.59	3.05	1.91	0.25777	.	0.807764	0.10782	U	0.634719	T	0.10337	0.0253	L	0.43152	1.355	0.09310	N	1	B	0.27971	0.196	B	0.16722	0.016	T	0.22243	-1.0222	10	0.52906	T	0.07	.	4.3762	0.11272	0.2037:0.0:0.7963:0.0	.	241	Q6ZVW7	I17EL_HUMAN	L	241	ENSP00000374633:P241L;ENSP00000342520:P241L	ENSP00000342520:P241L	P	-	2	0	IL17REL	48778745	0.031000	0.19500	0.008000	0.14137	0.004000	0.04260	1.429000	0.34903	1.543000	0.49345	0.561000	0.74099	CCG		0.682	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		47	51	0	0	0	1	0	47	51					A	50436618	G	A	50436618	3	1	21	1	0	0	0	0	1	0	0	0	7653	1116	39	1	308	1	IL17REL	22	50436618	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	5755081	50436618	867948	849	2274										
TTLL8	164714	broad.mit.edu	37	chr22	50488585	50488585	+	Frame_Shift_Del	DEL	A	A	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	catccggaatgaccttgggcAaaaagtggaacttcttctct							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:50488585delA	ENST00000266182.6	-	2	142	c.143delT	c.(142-144)ttgfs	p.L48fs	TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Frame_Shift_Del_p.L48fs			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	84					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)		GACCTTGGGCAAAAAGTGGAA	0.572																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(142-144)tgfs		tubulin tyrosine ligase-like family, member 8							51	55	54					22																	50488585		2057	4180	6237	SO:0001589	frameshift_variant	164714							g.chr22:50488585delA			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.143delT	22.37:g.50488585delA	ENSP00000266182:p.Leu48fs		Somatic				TTLL8_ENST00000440475.1_Frame_Shift_Del_p.L48fs|TTLL8_ENST00000477219.1_5'UTR	p.L48fs			WXS	Illumina GAIIx	Phase_I				READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	2	142	-		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	Frame_Shift_Del	DEL	ENST00000266182.6	37	c.143delT																																																																																					0.572	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		20	20						20	20	---	---	---	---	-	50488585	A	-	50488585	7	5	21	1	0	1	0	1	0	0	0	0	16748	131	5	0	2412	0	TTLL8	22	50488585	Frame_Shift_Del	DEL	A	TCGA-N7-A4Y0-01A-12D-A28R-08	51967	50488585	815981	850	2275										
MAPK8IP2	23542	broad.mit.edu	37	chr22	51043378	51043378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccagcgaggaggaggcgggcGcggcgctgctaggcggcggt	22	11	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:51043378G>A	ENST00000399908.2	+	3	1569	c.853G>A	c.(853-855)Gcg>Acg	p.A285T	MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.A256T|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.A285T|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.A171T|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.A550T	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	551	Necessary for interaction with FGF13.|Ser-rich.				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	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)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGAGGCGGGCGCGGCGCTGCT	0.682																																						ENST00000399908.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(853-855)Gcg>Acg		mitogen-activated protein kinase 8 interacting protein 2							13	17	16					22																	51043378		2126	4151	6277	SO:0001583	missense	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51043378G>A	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"islet-brain 2", "JNK-interacting protein 2"	607755	"PRKM8 interacting protein-like"	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.853G>A	22.37:g.51043378G>A	ENSP00000382792:p.Ala285Thr		Somatic				MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.A285T|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.A171T|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.A550T|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.A256T	p.A285T	NM_016431.3	NP_057515.1	WXS	Illumina GAIIx	Phase_I	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	1569	+		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)	551			Ser-rich.		Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000399908.2	37	c.853G>A		.	.	.	.	.	.	.	.	.	.	G	7.634	0.679442	0.14907	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T	0.45276	2.23;0.9;1.26;2.23;2.22	4.73	-0.428	0.12306	Src homology-3 domain (1);	0.927800	0.09079	N	0.851581	T	0.16342	0.0393	.	.	.	0.09310	N	1	B;B	0.32382	0.368;0.019	B;B	0.22753	0.041;0.002	T	0.17167	-1.0378	9	0.12103	T	0.63	-33.3025	2.9468	0.05848	0.0864:0.2793:0.3508:0.2836	.	523;551	E7EQG6;Q13387	.;JIP2_HUMAN	T	285;550;171;285;256	ENSP00000382796:A285T;ENSP00000330572:A550T;ENSP00000340015:A171T;ENSP00000382792:A285T;ENSP00000008876:A256T	ENSP00000008876:A256T	A	+	1	0	MAPK8IP2	49390244	0.007000	0.16637	0.000000	0.03702	0.026000	0.11368	0.345000	0.19979	0.046000	0.15833	-0.379000	0.06801	GCG		0.682	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2	NM_012324		22	20	0	0	0	1	0	22	20					A	51043378	G	A	51043378	3	1	21	1	0	0	0	0	1	0	0	0	9294	1074	38	1	1758	1	MAPK8IP2	22	51043378	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	554793	51043378	261188	851	2276										
ARSA	410	broad.mit.edu	37	chr22	51065756	51065757	+	Frame_Shift_Ins	INS	-	-	C													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcacctcctccaggggcaggINScccccccgggagctgggcac					rs74315455		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:51065756_51065757insC	ENST00000547307.1	-	2	701_702	c.296_297insG	c.(295-297)ggcfs	p.G99fs	ARSA_ENST00000547805.1_Frame_Shift_Ins_p.G99fs|ARSA_ENST00000216124.5_Frame_Shift_Ins_p.G101fs|ARSA_ENST00000395619.3_Frame_Shift_Ins_p.G101fs|ARSA_ENST00000453344.2_Frame_Shift_Ins_p.G15fs|ARSA_ENST00000395621.3_Frame_Shift_Ins_p.G101fs|ARSA_ENST00000356098.5_Frame_Shift_Ins_p.G101fs			P15289	ARSA_HUMAN	arylsulfatase A	99			G -> D (in MLD; adult type; dbSNP:rs74315455). {ECO:0000269|PubMed:1673291, ECO:0000269|PubMed:21265945}.|G -> V (in MLD; late-infantile form; dbSNP:rs74315455). {ECO:0000269|PubMed:10477432}.		autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|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)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	CCAGGGGCAGGCCCCCCCGGGA	0.718																																						ENST00000547307.1																			0				endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9	GRCh37	CI090050|CM910050|CM990175	ARSA	I|M	rs74315455	c.(295-297)gctfs		arylsulfatase A	Micafungin(DB01141)																																			SO:0001589	frameshift_variant	410					lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	g.chr22:51065756_51065757insC	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"Arylsulfatase family"	713	protein-coding gene	gene with protein product	"metachromatic leucodystrophy"	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.297dupG	22.37:g.51065763_51065763dupC	ENSP00000448440:p.Gly99fs		Somatic				ARSA_ENST00000395619.3_Frame_Shift_Ins_p.A101fs|ARSA_ENST00000216124.5_Frame_Shift_Ins_p.A101fs|ARSA_ENST00000356098.5_Frame_Shift_Ins_p.A101fs|ARSA_ENST00000453344.2_Frame_Shift_Ins_p.A15fs|ARSA_ENST00000547805.1_Frame_Shift_Ins_p.A99fs|ARSA_ENST00000395621.3_Frame_Shift_Ins_p.A101fs	p.A99fs			WXS	Illumina GAIIx	Phase_I	P15289	ARSA_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	701_702	-		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)	99		G -> D (in MLD; adult type).|G -> V (in MLD; late-infantile form).			B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Frame_Shift_Ins	INS	ENST00000547307.1	37	c.296_297insG																																																																																					0.718	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		8	9						8	9	---	---	---	---	C	51065757	-	C	51065756	7	5	21	1	0	1	1	0	0	0	0	0	987	1190	42	0	1254	0	ARSA	22	51065756	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	22378	51065756	238810	852	2277										
ACR	49	broad.mit.edu	37	chr22	51178329	51178330	+	Frame_Shift_Ins	INS	-	-	C													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tcattgggccgggctgcctgINSccccactttaaggcaggcct							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:51178329_51178330insC	ENST00000216139.5	+	3	529_530	c.489_490insC	c.(490-492)cccfs	p.P164fs	AC000036.4_ENST00000449652.1_RNA|AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000529621.1_Frame_Shift_Ins_p.P164fs	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	164	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)		CGGGCTGCCTGCCCCACTTTAA	0.579																																						ENST00000216139.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(487-492)ctcccafs		acrosin																																				SO:0001589	frameshift_variant	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.chr22:51178329_51178330insC	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.493dupC	22.37:g.51178333_51178333dupC	ENSP00000216139:p.Pro164fs		Somatic				ACR_ENST00000529621.1_Frame_Shift_Ins_p.LP163fs	p.LP163fs	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	529_530	+		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)	163			Peptidase S1.		Q6ICK2	Frame_Shift_Ins	INS	ENST00000216139.5	37	c.489_490insC	CCDS14101.1																																																																																				0.579	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097		68	93						68	93	---	---	---	---	C	51178330	-	C	51178329	7	5	21	1	0	1	1	0	0	0	0	0	169	1306	46	0	499	0	ACR	22	51178329	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y0-01A-12D-A28R-08	112573	51178329	126237	853	2278										
PLCXD1	55344	broad.mit.edu	37	chrX	215973	215973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcttcgtcagtgacgtcatcGcgctcaatcagaagctgctg	11	12	4	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:215973G>A	ENST00000381657.2	+	7	1457	c.943G>A	c.(943-945)Gcg>Acg	p.A315T	PLCXD1_ENST00000381663.3_Missense_Mutation_p.A315T|PLCXD1_ENST00000399012.1_Missense_Mutation_p.A315T	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	315					lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGACGTCATCGCGCTCAATCA	0.617																																						ENST00000381657.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(943-945)Gcg>Acg		phosphatidylinositol-specific phospholipase C, X domain containing 1							85	75	79					X																	215973		2203	4296	6499	SO:0001583	missense	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:215973G>A	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"Pseudoautosomal regions / PAR1"	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.943G>A	X.37:g.215973G>A	ENSP00000371073:p.Ala315Thr		Somatic				PLCXD1_ENST00000399012.1_Missense_Mutation_p.A315T|PLCXD1_ENST00000381663.3_Missense_Mutation_p.A315T	p.A315T	NM_018390.3	NP_060860.1	WXS	Illumina GAIIx	Phase_I	Q9NUJ7	PLCX1_HUMAN			7	1457	+		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)	315					A2BH51|A2BH52	Missense_Mutation	SNP	ENST00000381657.2	37	c.943G>A	CCDS14103.1	.	.	.	.	.	.	.	.	.	.	.	0.047	-1.261865	0.01445	.	.	ENSG00000182378	ENST00000399012;ENST00000381657;ENST00000381663	.	.	.	1.77	-0.998	0.10212	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	1.373920	0.04362	N	0.357570	T	0.18299	0.0439	.	.	.	0.09310	N	1	B	0.24768	0.111	B	0.14023	0.01	T	0.12993	-1.0526	8	0.19147	T	0.46	-7.8793	3.748	0.08555	0.2741:0.2401:0.4857:0.0	.	315	Q9NUJ7	PLCX1_HUMAN	T	315	.	ENSP00000371073:A315T	A	+	1	0	PLCXD1	155973	0.001000	0.12720	0.697000	0.30258	0.022000	0.10575	0.464000	0.21988	-0.055000	0.13244	0.181000	0.17075	GCG		0.617	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		26	35	0	0	0	1	0	26	35					A	215973	G	A	215973	3	1	21	1	0	0	0	0	1	0	0	0	12050	1087	38	1	965	1	PLCXD1	23	215973	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08		215973	155054587	854	2279										
SLC25A6	293	broad.mit.edu	37	chrX	1508427	1508427	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	actgcgtgtgcttgtccacgCcccccaggaagatctgcttg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:1508427delC	ENST00000381401.5	-	2	1019	c.305delG	c.(304-306)ggcfs	p.G102fs	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	102					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CTTGTCCACGCCCCCCAGGAA	0.607																																						ENST00000381401.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(304-306)gcfs		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)						206	203	204					X																	1508427		2203	4296	6499	SO:0001589	frameshift_variant	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508427delC	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"Pseudoautosomal regions / PAR1", "Solute carriers"	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.305delG	X.37:g.1508427delC	ENSP00000370808:p.Gly102fs		Somatic				SLC25A6_ENST00000475167.1_5'UTR	p.G102fs	NM_001636.3	NP_001627.2	WXS	Illumina GAIIx	Phase_I	P12236	ADT3_HUMAN			2	1019	-		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)	102					Q96C49	Frame_Shift_Del	DEL	ENST00000381401.5	37	c.305delG	CCDS14114.1																																																																																				0.607	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		101	189						101	189	---	---	---	---	-	1508427	C	-	1508427	7	5	21	1	0	1	0	1	0	0	0	0	14528	739	26	0	603	0	SLC25A6	23	1508427	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	1292454	1508427	153762133	855	2280										
ARSD	414	broad.mit.edu	37	chrX	2828698	2828698	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtccccgatgtccacaactcAcctttgtaaattccgttcca	5	15	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:2828698A>G	ENST00000381154.1	-	7	1211		c.e7+1		ARSD_ENST00000217890.6_5'Flank	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D						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)				TCCACAACTCACCTTTGTAAA	0.453																																						ENST00000381154.1																			0				large_intestine(3)|lung(3)	6						c.e7+1		arylsulfatase D							346	269	295					X																	2828698		2203	4300	6503	SO:0001630	splice_region_variant	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2828698A>G	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.1135+1T>C	X.37:g.2828698A>G			Somatic						NM_001669.3	NP_001660.2	WXS	Illumina GAIIx	Phase_I	P51689	ARSD_HUMAN			7	1211	-		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)						Q9UHJ8	Splice_Site	SNP	ENST00000381154.1	37		CCDS35196.1	.	.	.	.	.	.	.	.	.	.	A	8.360	0.832846	0.16820	.	.	ENSG00000006756	ENST00000381154	.	.	.	3.3	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1677	0.48552	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARSD	2838698	1.000000	0.71417	0.011000	0.14972	0.133000	0.20885	7.045000	0.76585	1.051000	0.40369	0.352000	0.21897	.		0.453	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1		Intron	18	236	0	0	0	1	0	18	236					G	2828698	A	G	2828698	5	3	21	1	0	0	0	0	0	0	1	0	989	173	6	4	660	4	ARSD	23	2828698	Splice_Site	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	1320271	2828698	152441862	856	2281										
ARSE	415	broad.mit.edu	37	chrX	2854881	2854883	+	In_Frame_Del	DEL	AGA	AGA	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctgtccccaggagcaagggcAgaaggtcttggccgtcaatc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:2854881_2854883delAGA	ENST00000381134.3	-	10	1377_1379	c.1311_1313delTCT	c.(1309-1314)cttctg>ctg	p.437_438LL>L	ARSE_ENST00000545496.1_In_Frame_Del_p.462_463LL>L|ARSE_ENST00000540563.1_In_Frame_Del_p.392_393LL>L	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	437					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)				GAGCAAGGGCAGAAGGTCTTGGC	0.562																																						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.(1384-1389)ctg>ct		arylsulfatase E (chondrodysplasia punctata 1)																																				SO:0001651	inframe_deletion	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2854881_2854883delAGA	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.1311_1313delTCT	X.37:g.2854881_2854883delAGA	ENSP00000370526:p.Leu438del		Somatic				ARSE_ENST00000540563.1_In_Frame_Del_p.LL392del|ARSE_ENST00000381134.3_In_Frame_Del_p.LL437del	p.LL462del			WXS	Illumina GAIIx	Phase_I	P51690	ARSE_HUMAN			11	1677_1679	-		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)	437					Q53FT2|Q53FU8	In_Frame_Del	DEL	ENST00000381134.3	37	c.1386_1388delTCT	CCDS14122.1																																																																																				0.562	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		20	25						20	25	---	---	---	---	-	2854883	AGA	-	2854881	7	5	21	1	0	1	0	1	0	0	0	0	990	188	7	0	464	0	ARSE	23	2854881	In_Frame_Del	DEL	AGA	TCGA-N7-A4Y0-01A-12D-A28R-08	26183	2854881	152415679	857	2282										
CLCN4	1183	broad.mit.edu	37	chrX	10153098	10153098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caatgcgggagcgatgagtgGctctggaaacctgatggatt	15	7	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:10153098G>A	ENST00000380833.4	+	3	417	c.26G>A	c.(25-27)gGc>gAc	p.G9D	CLCN4_ENST00000421085.2_Intron|CLCN4_ENST00000380829.1_Missense_Mutation_p.G9D	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	9					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						GCGATGAGTGGCTCTGGAAAC	0.517																																					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.(25-27)gGc>gAc		chloride channel, voltage-sensitive 4							181	141	154					X																	10153098		2203	4300	6503	SO:0001583	missense	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10153098G>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.26G>A	X.37:g.10153098G>A	ENSP00000370213:p.Gly9Asp		Somatic				CLCN4_ENST00000380829.1_Missense_Mutation_p.G9D|CLCN4_ENST00000421085.2_Intron	p.G9D	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	WXS	Illumina GAIIx	Phase_I	P51793	CLCN4_HUMAN			3	417	+			9					A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.26G>A	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274389	0.59649	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000454850	D;D;D	0.91464	-2.44;-2.83;-2.85	5.04	0.874	0.19124	.	0.162163	0.53938	D	0.000045	D	0.86377	0.5918	L	0.59436	1.845	0.80722	D	1	P	0.48640	0.913	B	0.35182	0.197	D	0.83588	0.0121	10	0.51188	T	0.08	-10.8965	16.3364	0.83064	0.0:0.5128:0.4872:0.0	.	9	P51793	CLCN4_HUMAN	D	9	ENSP00000370213:G9D;ENSP00000370209:G9D;ENSP00000403064:G9D	ENSP00000370209:G9D	G	+	2	0	CLCN4	10113098	1.000000	0.71417	0.977000	0.42913	0.984000	0.73092	3.849000	0.55910	-0.175000	0.10725	0.594000	0.82650	GGC		0.517	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			5	107	0	0	0	1	0	5	107					A	10153098	G	A	10153098	3	1	21	1	0	0	0	0	1	0	0	0	3467	1203	42	3	28	3	CLCN4	23	10153098	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	7298217	10153098	145117462	858	2283										
FRMPD4	9758	broad.mit.edu	37	chrX	12693029	12693029	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgtcattcagccttaccctgTaagtgttctgtgaataaaag	8	8	3	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:12693029T>C	ENST00000380682.1	+	5	974		c.e5+2			NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4						positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCTTACCCTGTAAGTGTTCTG	0.393																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.e5+2		FERM and PDZ domain containing 4							188	164	172					X																	12693029		2203	4300	6503	SO:0001630	splice_region_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12693029T>C	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.468+2T>C	X.37:g.12693029T>C			Somatic						NM_014728.3	NP_055543.2	WXS	Illumina GAIIx	Phase_I	Q14CM0	FRPD4_HUMAN			5	974	+								A8K0X9|O15032	Splice_Site	SNP	ENST00000380682.1	37		CCDS35201.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.998927	0.74818	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.778	0.57459	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRMPD4	12602950	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	6.814000	0.75236	1.767000	0.52121	0.486000	0.48141	.		0.393	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	Intron	5	114	0	0	0	1	0	5	114					C	12693029	T	C	12693029	5	2	21	1	0	0	0	0	0	0	1	0	6067	1652	57	4	488	4	FRMPD4	23	12693029	Splice_Site	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2539931	12693029	142577531	859	2284										
ARX	170302	broad.mit.edu	37	chrX	25031207	25031207	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cctcgccgtccttgccctcaGcgtcttccgggtgcagcagc	11	18	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:25031207G>T	ENST00000379044.4	-	2	1115	c.905C>A	c.(904-906)gCt>gAt	p.A302D		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	302					axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			kidney(1)|large_intestine(2)|lung(1)	4						CTTGCCCTCAGCGTCTTCCGG	0.697																																						ENST00000379044.4																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(904-906)gCt>gAt		aristaless related homeobox							25	19	21					X																	25031207		2201	4299	6500	SO:0001583	missense	170302					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:25031207G>T	AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"Homeoboxes / PRD class"	18060	protein-coding gene	gene with protein product	"cancer/testis antigen 121"	300382	"mental retardation, X-linked 54", "mental retardation, X-linked 43", "mental retardation, X-linked 36", "mental retardation, X-linked 29", "mental retardation, X-linked 32", "mental retardation, X-linked 33", "mental retardation, X-linked 38", "mental retardation, X-linked 87", "mental retardation, X-linked 76"	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.905C>A	X.37:g.25031207G>T	ENSP00000368332:p.Ala302Asp		Somatic					p.A302D	NM_139058.2	NP_620689.1	WXS	Illumina GAIIx	Phase_I	Q96QS3	ARX_HUMAN			2	1115	-			302						Missense_Mutation	SNP	ENST00000379044.4	37	c.905C>A	CCDS14215.1	.	.	.	.	.	.	.	.	.	.	g	8.194	0.796739	0.16327	.	.	ENSG00000004848	ENST00000379044	D	0.90788	-2.73	3.83	2.91	0.33838	.	0.286850	0.31335	N	0.007837	T	0.79930	0.4531	N	0.14661	0.345	0.42547	D	0.993092	B	0.18610	0.029	B	0.12837	0.008	T	0.74674	-0.3586	10	0.38643	T	0.18	.	8.3394	0.32235	0.0:0.2826:0.5671:0.1503	.	302	Q96QS3	ARX_HUMAN	D	302	ENSP00000368332:A302D	ENSP00000368332:A302D	A	-	2	0	ARX	24941128	0.989000	0.36119	0.981000	0.43875	0.575000	0.36095	2.324000	0.43831	1.518000	0.48934	0.141000	0.15989	GCT		0.697	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056109.1			5	7	1	0	0.0215528	1	0.0217012	5	7					T	25031207	G	T	25031207	3	4	21	1	0	0	0	0	1	0	0	0	1004	971	34	5	799	5	ARX	23	25031207	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	12338178	25031207	130239353	860	2285										
CXorf21	80231	broad.mit.edu	37	chrX	30578299	30578299	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ataaacttgccagatgatttGcagctcacgtagagacttct	8	9	2	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:30578299G>T	ENST00000378962.3	-	3	496	c.174C>A	c.(172-174)tgC>tgA	p.C58*		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	58										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CAGATGATTTGCAGCTCACGT	0.468																																						ENST00000378962.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						c.(172-174)tgC>tgA		chromosome X open reading frame 21							176	158	164					X																	30578299		2202	4300	6502	SO:0001587	stop_gained	80231							g.chrX:30578299G>T	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.174C>A	X.37:g.30578299G>T	ENSP00000368245:p.Cys58*		Somatic					p.C58*	NM_025159.2	NP_079435.1	WXS	Illumina GAIIx	Phase_I	Q9HAI6	CX021_HUMAN			3	496	-			58						Nonsense_Mutation	SNP	ENST00000378962.3	37	c.174C>A	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	G	34	5.357774	0.95854	.	.	ENSG00000120280	ENST00000378962	.	.	.	4.95	3.18	0.36537	.	0.165190	0.43110	D	0.000612	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7406	7.5607	0.27849	0.3419:0.0:0.6581:0.0	.	.	.	.	X	58	.	ENSP00000368245:C58X	C	-	3	2	CXorf21	30488220	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	2.157000	0.42320	0.594000	0.29761	0.544000	0.68410	TGC		0.468	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		101	134	1	0	1.61169e-53	1	1.82852e-53	101	134					T	30578299	G	T	30578299	4	4	21	1	0	0	0	0	0	1	0	0	4103	1311	46	5	735	5	CXorf21	23	30578299	Nonsense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	5547092	30578299	124692261	861	2286										
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp		Somatic					p.N648D	NM_001013736.2	NP_001013758.1	WXS	Illumina GAIIx	Phase_I	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		7	169	0	0	0	1	0	7	169					G	37028425	A	G	37028425	3	3	21	1	0	0	0	0	1	0	0	0	5579	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	6450126	37028425	118242135	862	2287										
RBM10	8241	broad.mit.edu	37	chrX	47030467	47030469	+	In_Frame_Del	DEL	GGC	GGC	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gggctccgagactcagcgtaGgcggcggcggcggcacaggc							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:47030467_47030469delGGC	ENST00000377604.3	+	4	984_986	c.242_244delGGC	c.(241-246)aggcgg>agg	p.81_82RR>R	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	81	Poly-Arg.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.R85delR(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACTCAGCGTAGGCGGCGGCGGCG	0.68																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			1	Deletion - In frame(1)	p.R85delR(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(241-246)agg>a		RNA binding motif protein 10			,,,,	44,3546		4,27,9,1518,483					,,,,	3.8	1			15	76,6190		7,32,30,2270,1618	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	11,59,39,3788,2101	A1A1,A1R,A1,RR,R		1.2129,1.2256,1.2175	,,,,	,,,,		120,9736				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030467_47030469delGGC	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.242_244delGGC	X.37:g.47030476_47030478delGGC	ENSP00000366829:p.Arg85del		Somatic				RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron	p.RR83del	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	WXS	Illumina GAIIx	Phase_I	P98175	RBM10_HUMAN			4	984_986	+			83			Poly-Arg.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.242_244delGGC	CCDS14274.1																																																																																				0.68	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		26	40						26	40	---	---	---	---	-	47030469	GGC	-	47030467	7	5	21	1	0	1	0	1	0	0	0	0	13126	1000	35	0	252	0	RBM10	23	47030467	In_Frame_Del	DEL	GGC	TCGA-N7-A4Y0-01A-12D-A28R-08	10002042	47030467	108240093	863	2288										
CDK16	5127	broad.mit.edu	37	chrX	47085770	47085770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccccagaacctgctcatcaaCgagaggggagagctcaagct	11	13	3	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:47085770C>T	ENST00000357227.4	+	9	1309	c.885C>T	c.(883-885)aaC>aaT	p.N295N	CDK16_ENST00000518022.1_Silent_p.N295N|CDK16_ENST00000276052.6_Silent_p.N369N|CDK16_ENST00000457458.2_Silent_p.N301N	NM_006201.4	NP_006192.1	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				exocytosis (GO:0006887)|growth hormone secretion (GO:0030252)|neuron projection development (GO:0031175)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|spermatogenesis (GO:0007283)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						TGCTCATCAACGAGAGGGGAG	0.587																																						ENST00000457458.2																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						c.(901-903)aaC>aaT		cyclin-dependent kinase 16							97	78	84					X																	47085770		2203	4300	6503	SO:0001819	synonymous_variant	5127						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chrX:47085770C>T		CCDS14276.1, CCDS48101.1, CCDS55408.1	Xp11	2011-11-08	2009-12-16	2009-12-16	ENSG00000102225	ENSG00000102225		"Cyclin-dependent kinases"	8749	protein-coding gene	gene with protein product	"serine/threonine-protein kinase"	311550	"PCTAIRE protein kinase 1"	PCTK1		1437147, 19884882	Standard	NM_033018		Approved	PCTAIRE, PCTAIRE1, PCTGAIRE, FLJ16665	uc011mll.2	Q00536	OTTHUMG00000021438	ENST00000357227.4:c.885C>T	X.37:g.47085770C>T			Somatic				CDK16_ENST00000357227.4_Silent_p.N295N|CDK16_ENST00000518022.1_Silent_p.N295N|CDK16_ENST00000276052.6_Silent_p.N369N	p.N301N	NM_033018.3	NP_148978.2	WXS	Illumina GAIIx	Phase_I	Q00536	CDK16_HUMAN			9	1323	+			295			Protein kinase.		A8K280|B7Z7C8|J3KN74|J3KQP7	Silent	SNP	ENST00000357227.4	37	c.903C>T	CCDS14276.1																																																																																				0.587	CDK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056406.2	NM_006201		17	20	0	0	0	1	0	17	20					T	47085770	C	T	47085770	2	4	21	1	0	0	0	0	0	0	0	1	3134	535	19	1		1	CDK16	23	47085770	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	55303	47085770	108184790	864	2289										
SSX5	6758	broad.mit.edu	37	chrX	48047159	48047159	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggtccaggcatgtttcccccTtttgggtcctatgatggaga	12	10	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:48047159T>C	ENST00000376923.1	-	6	474	c.475A>G	c.(475-477)Agg>Ggg	p.R159G	SSX5_ENST00000347757.1_Missense_Mutation_p.R159G|SSX5_ENST00000311798.1_Missense_Mutation_p.R200G			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	159					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						TGTTTCCCCCTTTTGGGTCCT	0.478																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(598-600)Agg>Ggg		synovial sarcoma, X breakpoint 5							224	205	212					X																	48047159		2203	4297	6500	SO:0001583	missense	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48047159T>C	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.475A>G	X.37:g.48047159T>C	ENSP00000366122:p.Arg159Gly		Somatic				SSX5_ENST00000347757.1_Missense_Mutation_p.R159G|SSX5_ENST00000376923.1_Missense_Mutation_p.R159G	p.R200G	NM_021015.3	NP_066295.3	WXS	Illumina GAIIx	Phase_I	O60225	SSX5_HUMAN			8	650	-			159					Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	c.598A>G	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	12.62	1.993787	0.35131	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757;ENST00000403001	T;T;T;T	0.38887	2.66;2.66;2.66;1.11	1.67	-3.19	0.05171	SSXRD motif (1);	1.395230	0.05263	N	0.516005	T	0.47229	0.1434	L	0.47716	1.5	0.09310	N	1	D;P	0.56287	0.975;0.765	P;P	0.60286	0.872;0.615	T	0.45745	-0.9240	10	0.72032	D	0.01	.	2.8173	0.05459	0.0:0.2136:0.401:0.3854	.	159;200	O60225;O60225-2	SSX5_HUMAN;.	G	200;159;159;99	ENSP00000312415:R200G;ENSP00000366122:R159G;ENSP00000290558:R159G;ENSP00000385051:R99G	ENSP00000312415:R200G	R	-	1	2	SSX5	47932103	0.000000	0.05858	0.000000	0.03702	0.287000	0.27160	-0.059000	0.11731	-0.596000	0.05821	0.151000	0.16131	AGG		0.478	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		129	202	0	0	0	1	0	129	202					C	48047159	T	C	48047159	3	2	21	1	0	0	0	0	1	0	0	0	15223	1608	56	4	95	4	SSX5	23	48047159	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	961389	48047159	107223401	865	2290										
GATA1	2623	broad.mit.edu	37	chrX	48652397	48652397	+	Frame_Shift_Del	DEL	C	C	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcttcaggcctgacactgggCcccccaggtactgcccatct							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:48652397delC	ENST00000376670.3	+	6	1179	c.1068delC	c.(1066-1068)ggcfs	p.G356fs	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	356					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)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TGACACTGGGCCCCCCAGGTA	0.647			"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		0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						c.(1066-1068)ggfs		GATA binding protein 1 (globin transcription factor 1)							36	33	34					X																	48652397		2203	4299	6502	SO:0001589	frameshift_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:48652397delC	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.1068delC	X.37:g.48652397delC	ENSP00000365858:p.Gly356fs		Somatic				GATA1_ENST00000376665.3_Intron	p.G356fs	NM_002049.3	NP_002040.1	WXS	Illumina GAIIx	Phase_I	P15976	GATA1_HUMAN			6	1179	+			356					Q96GB8	Frame_Shift_Del	DEL	ENST00000376670.3	37	c.1068delC	CCDS14305.1																																																																																				0.647	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		7	15						7	15	---	---	---	---	-	48652397	C	-	48652397	7	5	21	1	0	1	0	1	0	0	0	0	6261	726	26	0	1086	0	GATA1	23	48652397	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y0-01A-12D-A28R-08	605238	48652397	106618163	866	2291										
CCNB3	85417	broad.mit.edu	37	chrX	50085296	50085296	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgcaagaaggataagttacaActccttggtgccactgcctt	9	10	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:50085296A>G	ENST00000376042.1	+	9	3910	c.3612A>G	c.(3610-3612)caA>caG	p.Q1204Q	CCNB3_ENST00000376038.1_Silent_p.Q100Q|CCNB3_ENST00000276014.7_Silent_p.Q1204Q|CCNB3_ENST00000348603.2_Silent_p.Q100Q			Q8WWL7	CCNB3_HUMAN	cyclin B3	1204					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATAAGTTACAACTCCTTGGTG	0.468																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(3610-3612)caA>caG		cyclin B3							191	145	160					X																	50085296		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50085296A>G	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3612A>G	X.37:g.50085296A>G			Somatic				CCNB3_ENST00000348603.2_Silent_p.Q100Q|CCNB3_ENST00000376038.1_Silent_p.Q100Q|CCNB3_ENST00000276014.7_Silent_p.Q1204Q	p.Q1204Q			WXS	Illumina GAIIx	Phase_I	Q8WWL7	CCNB3_HUMAN			9	3910	+	Ovarian(276;0.236)		1204					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.3612A>G	CCDS14331.1																																																																																				0.468	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			43	62	0	0	0	1	0	43	62					G	50085296	A	G	50085296	2	3	21	1	0	0	0	0	0	0	0	1	2916	40	2	4		4	CCNB3	23	50085296	Silent	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	1432899	50085296	105185264	867	2292										
BMP15	9210	broad.mit.edu	37	chrX	50659512	50659512	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cctcctgtgtcccgtataagTatgttccaattagtgtcctt	7	11	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:50659512T>C	ENST00000252677.3	+	2	1084	c.1084T>C	c.(1084-1086)Tat>Cat	p.Y362H		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	362					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCCGTATAAGTATGTTCCAAT	0.463																																						ENST00000252677.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(1084-1086)Tat>Cat		bone morphogenetic protein 15							94	85	88					X																	50659512		2203	4299	6502	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659512T>C	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"Bone morphogenetic proteins"	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.1084T>C	X.37:g.50659512T>C	ENSP00000252677:p.Tyr362His		Somatic					p.Y362H	NM_005448.2	NP_005439.2	WXS	Illumina GAIIx	Phase_I	O95972	BMP15_HUMAN			2	1084	+	Ovarian(276;0.236)		362					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.1084T>C	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	t	13.51	2.258501	0.39896	.	.	ENSG00000130385	ENST00000252677	D	0.84730	-1.89	5.58	5.58	0.84498	Transforming growth factor-beta, C-terminal (3);	0.118587	0.64402	N	0.000015	D	0.93161	0.7822	M	0.90483	3.12	0.50039	D	0.999846	D	0.89917	1.0	D	0.79784	0.993	D	0.94222	0.7468	10	0.87932	D	0	.	12.5724	0.56344	0.0:0.0:0.0:1.0	.	362	O95972	BMP15_HUMAN	H	362	ENSP00000252677:Y362H	ENSP00000252677:Y362H	Y	+	1	0	BMP15	50676252	1.000000	0.71417	0.972000	0.41901	0.018000	0.09664	6.173000	0.71937	1.876000	0.54355	0.481000	0.45027	TAT		0.463	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		45	60	0	0	0	1	0	45	60					C	50659512	T	C	50659512	3	2	21	1	0	0	0	0	1	0	0	0	1458	1638	57	4	1090	4	BMP15	23	50659512	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	574216	50659512	104611048	868	2293										
TSPYL2	64061	broad.mit.edu	37	chrX	53111865	53111865	+	Frame_Shift_Del	DEL	G	G	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	acaggtgctggccgatatgaGgggggtgggactgggccccg							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:53111865delG	ENST00000375442.4	+	1	317	c.185delG	c.(184-186)aggfs	p.R62fs		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	62	Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GCCGATATGAGGGGGGTGGGA	0.726																																						ENST00000375442.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						c.(184-186)agfs		TSPY-like 2							2	3	3					X																	53111865		1636	3469	5105	SO:0001589	frameshift_variant	64061				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding	g.chrX:53111865delG	AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.185delG	X.37:g.53111865delG	ENSP00000364591:p.Arg62fs		Somatic					p.R62fs	NM_022117.3	NP_071400.1	WXS	Illumina GAIIx	Phase_I	Q9H2G4	TSYL2_HUMAN			1	317	+			62			Pro-rich.		O94799|Q96DG7|Q9BZW6	Frame_Shift_Del	DEL	ENST00000375442.4	37	c.185delG	CCDS14350.1																																																																																				0.726	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056718.1	NM_022117		6	11						6	11	---	---	---	---	-	53111865	G	-	53111865	7	5	21	1	0	1	0	1	0	0	0	0	16675	1000	35	0	187	0	TSPYL2	23	53111865	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y0-01A-12D-A28R-08	2452353	53111865	102158695	869	2294										
KDM5C	8242	broad.mit.edu	37	chrX	53247577	53247577	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gttcagtttcactctcgtctGggcctgaagaagaaatggct	11	9	4	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:53247577G>T	ENST00000375401.3	-	3	764	c.232C>A	c.(232-234)Cag>Aag	p.Q78K	KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q78K|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q78K|KDM5C_ENST00000375383.3_Intron	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	78					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ACTCTCGTCTGGGCCTGAAGA	0.512			"N, F, S"		clear cell renal carcinoma																																	ENST00000375401.3				Rec	yes		X	Xp11.22-p11.21	8242	"N, F, S"	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(232-234)Cag>Aag		lysine (K)-specific demethylase 5C							84	73	76					X																	53247577		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53247577G>T	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.232C>A	X.37:g.53247577G>T	ENSP00000364550:p.Gln78Lys		Somatic				KDM5C_ENST00000375379.3_Missense_Mutation_p.Q78K|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q78K|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375383.3_Intron	p.Q78K	NM_004187.3	NP_004178.2	WXS	Illumina GAIIx	Phase_I	P41229	KDM5C_HUMAN			3	764	-			78					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.232C>A	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556879	0.27827	.	.	ENSG00000126012	ENST00000375401;ENST00000404049;ENST00000375379	T;T;T	0.62639	0.01;0.01;0.01	4.78	4.78	0.61160	ARID/BRIGHT DNA-binding domain (3);	0.057528	0.64402	D	0.000002	T	0.45135	0.1327	N	0.16368	0.405	0.80722	D	1	B;B	0.28128	0.201;0.045	B;B	0.34824	0.19;0.054	T	0.34179	-0.9839	10	0.13108	T	0.6	-22.2769	10.5479	0.45070	0.0:0.1918:0.8081:0.0	.	78;78	B0QZ44;P41229	.;KDM5C_HUMAN	K	78	ENSP00000364550:Q78K;ENSP00000385394:Q78K;ENSP00000364528:Q78K	ENSP00000364528:Q78K	Q	-	1	0	KDM5C	53264302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.438000	0.59961	2.093000	0.63338	0.529000	0.55759	CAG		0.512	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		24	48	1	0	2.49675e-24	1	2.77874e-24	24	48					T	53247577	G	T	53247577	3	4	21	1	0	0	0	0	1	0	0	0	8144	1357	47	5	4644	5	KDM5C	23	53247577	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	135712	53247577	102022983	870	2295										
TRO	7216	broad.mit.edu	37	chrX	54948702	54948702	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggataggagaaatgactacgGatatagggtgcctctatttc	12	6	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:54948702G>T	ENST00000173898.7	+	2	135	c.23G>T	c.(22-24)gGa>gTa	p.G8V	TRO_ENST00000375041.2_Missense_Mutation_p.G8V|TRO_ENST00000420798.2_Intron|TRO_ENST00000484031.1_3'UTR|TRO_ENST00000375022.4_Missense_Mutation_p.G8V|TRO_ENST00000399736.1_Missense_Mutation_p.G8V|TRO_ENST00000319167.8_Missense_Mutation_p.G8V	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	8					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AATGACTACGGATATAGGGTG	0.532																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(22-24)gGa>gTa		trophinin							125	113	117					X																	54948702		1961	4132	6093	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54948702G>T	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.23G>T	X.37:g.54948702G>T	ENSP00000173898:p.Gly8Val		Somatic				TRO_ENST00000420798.2_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G8V|TRO_ENST00000319167.8_Missense_Mutation_p.G8V|TRO_ENST00000375022.4_Missense_Mutation_p.G8V|TRO_ENST00000399736.1_Missense_Mutation_p.G8V|TRO_ENST00000484031.1_3'UTR	p.G8V	NM_001039705.1	NP_001034794.1	WXS	Illumina GAIIx	Phase_I	Q12816	TROP_HUMAN			2	135	+			8					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.23G>T	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	9.702	1.154803	0.21371	.	.	ENSG00000067445	ENST00000442098;ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000431115;ENST00000375041;ENST00000440759;ENST00000416704	T;T;T;T;T;T;T;T;T	0.58358	0.34;3.32;3.12;3.12;2.13;1.36;3.6;0.36;0.36	3.15	1.3	0.21679	.	.	.	.	.	T	0.41119	0.1145	N	0.19112	0.55	0.09310	N	1	P;P;P;D	0.54964	0.937;0.61;0.917;0.969	B;B;B;P	0.50352	0.403;0.094;0.278;0.638	T	0.20042	-1.0287	9	0.51188	T	0.08	.	4.5173	0.11940	0.3475:0.0:0.6525:0.0	.	8;8;8;8	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	V	8	ENSP00000404645:G8V;ENSP00000173898:G8V;ENSP00000318278:G8V;ENSP00000364162:G8V;ENSP00000382641:G8V;ENSP00000407996:G8V;ENSP00000364181:G8V;ENSP00000406574:G8V;ENSP00000404767:G8V	ENSP00000173898:G8V	G	+	2	0	TRO	54965427	0.017000	0.18338	0.001000	0.08648	0.121000	0.20230	1.653000	0.37323	0.197000	0.20387	0.513000	0.50165	GGA		0.532	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		8	11	1	0	1.12685e-05	1	1.1572e-05	8	11					T	54948702	G	T	54948702	3	4	21	1	0	0	0	0	1	0	0	0	16589	1174	41	2	25	2	TRO	23	54948702	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1701125	54948702	100321858	871	2296										
FAAH2	158584	broad.mit.edu	37	chrX	57337042	57337042	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ttaggtttgaggaagcgatgAaggaggctcatgctgtagat	15	4	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:57337042A>G	ENST00000374900.4	+	3	412	c.292A>G	c.(292-294)Aag>Gag	p.K98E		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	98				K -> R (in Ref. 1; BAB71007). {ECO:0000305}.		integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GGAAGCGATGAAGGAGGCTCA	0.393										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(292-294)Aag>Gag		fatty acid amide hydrolase 2							84	73	77					X																	57337042		2203	4300	6503	SO:0001583	missense	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57337042A>G	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"amidase domain containing"	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.292A>G	X.37:g.57337042A>G	ENSP00000364035:p.Lys98Glu	HNSCC(52;0.14)	Somatic					p.K98E	NM_174912.3	NP_777572.2	WXS	Illumina GAIIx	Phase_I	Q6GMR7	FAAH2_HUMAN			3	412	+			98	K -> R (in Ref. 1; BAB71007).				Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	c.292A>G	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	A	0.022	-1.416722	0.01136	.	.	ENSG00000165591	ENST00000374900	T	0.61627	0.09	2.34	-0.451	0.12214	Amidase signature domain (2);	0.165187	0.40469	U	0.001093	T	0.16171	0.0389	N	0.00801	-1.175	0.23776	N	0.996875	B	0.10296	0.003	B	0.14023	0.01	T	0.28839	-1.0031	10	0.08179	T	0.78	.	2.1746	0.03859	0.4478:0.3263:0.2259:0.0	.	98	Q6GMR7	FAAH2_HUMAN	E	98	ENSP00000364035:K98E	ENSP00000364035:K98E	K	+	1	0	FAAH2	57353767	0.457000	0.25752	0.842000	0.33263	0.160000	0.22226	0.374000	0.20501	0.736000	0.32559	0.339000	0.21740	AAG		0.393	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		20	30	0	0	0	1	0	20	30					G	57337042	A	G	57337042	3	3	21	1	0	0	0	0	1	0	0	0	5359	247	9	4	302	4	FAAH2	23	57337042	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	2388340	57337042	97933518	872	2297										
HDAC8	55869	broad.mit.edu	37	chrX	71787851	71787851	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tatagctgctgcatagtcaaAtatcccttcagtggctgggc	10	10	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:71787851A>T	ENST00000373573.3	-	4	666	c.325T>A	c.(325-327)Ttt>Att	p.F109I	HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373561.4_Missense_Mutation_p.F109I|HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373556.3_Missense_Mutation_p.F109I|HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000439122.2_Missense_Mutation_p.F109I|HDAC8_ENST00000373571.1_Missense_Mutation_p.F109I|HDAC8_ENST00000373560.2_Missense_Mutation_p.F109I|HDAC8_ENST00000373554.1_Missense_Mutation_p.F109I	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	109	Histone deacetylase.				chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	GCATAGTCAAATATCCCTTCA	0.478																																						ENST00000439122.2																			0				breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10						c.(325-327)Ttt>Att		histone deacetylase 8	Vorinostat(DB02546)						95	74	81					X																	71787851		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:71787851A>T	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.325T>A	X.37:g.71787851A>T	ENSP00000362674:p.Phe109Ile		Somatic				HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373561.4_Missense_Mutation_p.F109I|HDAC8_ENST00000373554.1_Missense_Mutation_p.F109I|HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373556.3_Missense_Mutation_p.F109I|HDAC8_ENST00000373573.3_Missense_Mutation_p.F109I|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373571.1_Missense_Mutation_p.F109I|HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373560.2_Missense_Mutation_p.F109I	p.F109I	NM_001166419.1	NP_001159891.1	WXS	Illumina GAIIx	Phase_I	Q9BY41	HDAC8_HUMAN			4	611	-	Renal(35;0.156)		109			Histone deacetylase.		A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Missense_Mutation	SNP	ENST00000373573.3	37	c.325T>A	CCDS14420.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.287372	0.80803	.	.	ENSG00000147099	ENST00000373573;ENST00000415409;ENST00000373571;ENST00000439122;ENST00000373560;ENST00000373561;ENST00000421523;ENST00000373556;ENST00000373554	T;T;T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	4.89	4.89	0.63831	Histone deacetylase domain (2);	0.153373	0.64402	D	0.000013	T	0.76814	0.4040	M	0.78916	2.43	0.49389	D	0.999781	P;P	0.44260	0.83;0.692	B;B	0.43916	0.436;0.27	T	0.80759	-0.1239	10	0.87932	D	0	-5.5933	11.8609	0.52465	1.0:0.0:0.0:0.0	.	109;109	B4DV22;Q9BY41	.;HDAC8_HUMAN	I	109;109;109;109;109;109;70;109;109	ENSP00000362674:F109I;ENSP00000396424:F109I;ENSP00000362672:F109I;ENSP00000414486:F109I;ENSP00000362661:F109I;ENSP00000362662:F109I;ENSP00000398997:F70I;ENSP00000362657:F109I;ENSP00000362655:F109I	ENSP00000362655:F109I	F	-	1	0	HDAC8	71704576	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.079000	0.94032	1.880000	0.54463	0.441000	0.28932	TTT		0.478	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		34	64	0	0	0	1	0	34	64					T	71787851	A	T	71787851	3	4	21	1	0	0	0	0	1	0	0	0	7022	101	4	4	926	4	HDAC8	23	71787851	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	14450809	71787851	83482709	873	2298										
SLC16A2	6567	broad.mit.edu	37	chrX	73740968	73740968	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tccataccagctccttcaccAggtaaggctaagagttggtg	10	11	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:73740968A>G	ENST00000587091.1	+	2	751	c.574A>G	c.(574-576)Agc>Ggc	p.S192G	SLC16A2_ENST00000276033.5_Splice_Site_p.S266G	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	192					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	CTCCTTCACCAGGTAAGGCTA	0.517																																						ENST00000276033.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21						c.e2+1		solute carrier family 16, member 2 (thyroid hormone transporter)	Pyruvic acid(DB00119)						87	79	81					X																	73740968		2203	4300	6503	SO:0001630	splice_region_variant	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73740968A>G		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"Solute carriers"	10923	protein-coding gene	gene with protein product		300095	"solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)", "Allan-Herndon-Dudley syndrome", "solute carrier family 16 (monocarboxylic acid transporters), member 2", "mental retardation, X-linked 22", "solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.575+1A>G	X.37:g.73740968A>G			Somatic				SLC16A2_ENST00000587091.1_Splice_Site_p.S192_splice	p.S266_splice			WXS	Illumina GAIIx	Phase_I	P36021	MOT8_HUMAN			2	962	+			192					Q7Z797	Splice_Site	SNP	ENST00000587091.1	37	c.797_splice	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	A	17.50	3.406213	0.62288	.	.	ENSG00000147100	ENST00000276033	T	0.37752	1.18	5.7	5.7	0.88788	Major facilitator superfamily domain, general substrate transporter (1);	0.133804	0.64402	D	0.000002	T	0.40040	0.1101	L	0.54323	1.7	0.32758	N	0.505526	B	0.24721	0.11	B	0.32393	0.145	T	0.54098	-0.8344	10	0.66056	D	0.02	.	14.6051	0.68472	1.0:0.0:0.0:0.0	.	192	P36021	MOT8_HUMAN	G	266	ENSP00000276033:S266G	ENSP00000276033:S266G	S	+	1	0	SLC16A2	73657693	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.161000	0.77505	1.909000	0.55274	0.483000	0.47432	AGC		0.517	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3		Missense_Mutation	50	56	0	0	0	1	0	50	56					G	73740968	A	G	73740968	5	3	21	1	0	0	0	0	0	0	1	0	14423	202	7	4	802	4	SLC16A2	23	73740968	Splice_Site	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	1953117	73740968	81529592	874	2299										
KIAA2022	340533	broad.mit.edu	37	chrX	73960123	73960123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tttttatcaaagaaggtagaGcgagagtcctcgttataacc	9	7	1	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:73960123G>A	ENST00000055682.6	-	3	4880	c.4269C>T	c.(4267-4269)cgC>cgT	p.R1423R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1423					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						AGAAGGTAGAGCGAGAGTCCT	0.443																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(4267-4269)cgC>cgT		KIAA2022							199	166	177					X																	73960123		2203	4300	6503	SO:0001819	synonymous_variant	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:73960123G>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.4269C>T	X.37:g.73960123G>A			Somatic				KIAA2022_ENST00000055682.5_Silent_p.R1423R	p.R1423R			WXS	Illumina GAIIx	Phase_I	Q5QGS0	K2022_HUMAN			3	4920	-			1423					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.4269C>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	1.579	-0.532140	0.04112	.	.	ENSG00000050030	ENST00000424929	.	.	.	5.36	-0.976	0.10286	.	.	.	.	.	T	0.23766	0.0575	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27806	-1.0063	4	.	.	.	9.7036	5.024	0.14376	0.2659:0.0:0.505:0.2291	.	.	.	.	F	25	.	.	L	-	1	0	KIAA2022	73876848	0.996000	0.38824	0.015000	0.15790	0.917000	0.54804	0.602000	0.24134	-0.409000	0.07553	-0.245000	0.11935	CTC		0.443	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		59	73	0	0	0	1	0	59	73					A	73960123	G	A	73960123	2	1	21	1	0	0	0	0	0	0	0	1	8278	958	34	3		3	KIAA2022	23	73960123	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	219155	73960123	81310437	875	2300										
MAGEE1	57692	broad.mit.edu	37	chrX	75649801	75649801	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gccccaagaccctatggaacAgaacgtagctgagctgttgc	11	12	0	3			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:75649801A>C	ENST00000361470.2	+	1	1756	c.1478A>C	c.(1477-1479)cAg>cCg	p.Q493P		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	493	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTATGGAACAGAACGTAGCT	0.493																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(1477-1479)cAg>cCg		melanoma antigen family E, 1							61	57	59					X																	75649801		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649801A>C	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1478A>C	X.37:g.75649801A>C	ENSP00000354912:p.Gln493Pro		Somatic					p.Q493P	NM_020932.2	NP_065983.1	WXS	Illumina GAIIx	Phase_I	Q9HCI5	MAGE1_HUMAN			1	1756	+			493			MAGE 1.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1478A>C	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	A	6.108	0.388275	0.11581	.	.	ENSG00000198934	ENST00000361470	T	0.03272	3.99	2.13	0.955	0.19602	.	.	.	.	.	T	0.03053	0.0090	L	0.52011	1.625	0.21184	N	0.999767	P	0.49783	0.928	B	0.34536	0.185	T	0.44065	-0.9352	9	0.59425	D	0.04	.	3.396	0.07305	0.7778:0.0:0.2222:0.0	.	493	Q9HCI5	MAGE1_HUMAN	P	493	ENSP00000354912:Q493P	ENSP00000354912:Q493P	Q	+	2	0	MAGEE1	75566205	0.858000	0.29795	0.449000	0.26957	0.518000	0.34316	0.716000	0.25836	0.166000	0.19597	0.481000	0.45027	CAG		0.493	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		38	43	0	0	0	1	0	38	43					C	75649801	A	C	75649801	3	2	21	1	0	0	0	0	1	0	0	0	9194	188	7	4	1480	4	MAGEE1	23	75649801	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	1689678	75649801	79620759	876	2301										
ATRX	546	broad.mit.edu	37	chrX	76889125	76889125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	catccaattcaaagcagtatTaagaggacaaaccactaacg	6	10	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:76889125T>C	ENST00000373344.5	-	18	5099	c.4885A>G	c.(4885-4887)Aat>Gat	p.N1629D	ATRX_ENST00000395603.3_Missense_Mutation_p.N1591D|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1629	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						AAAGCAGTATTAAGAGGACAA	0.343			"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.(4885-4887)Aat>Gat		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						48	45	46					X																	76889125		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:76889125T>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.4885A>G	X.37:g.76889125T>C	ENSP00000362441:p.Asn1629Asp		Somatic				ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.N1591D	p.N1629D	NM_000489.3	NP_000480.2	WXS	Illumina GAIIx	Phase_I	P46100	ATRX_HUMAN			18	5099	-			1629			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4885A>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	19.45	3.830111	0.71258	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92965	-3.14;-3.14	5.76	5.76	0.90799	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.96688	0.8919	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.986;0.998	D	0.97362	0.9970	10	0.72032	D	0.01	-18.0699	14.9947	0.71421	0.0:0.0:0.0:1.0	.	1591;1629	P46100-4;P46100	.;ATRX_HUMAN	D	1629;1591	ENSP00000362441:N1629D;ENSP00000378967:N1591D	ENSP00000362441:N1629D	N	-	1	0	ATRX	76775781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.673000	0.83973	1.924000	0.55735	0.481000	0.45027	AAT		0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		26	41	0	0	0	1	0	26	41					C	76889125	T	C	76889125	3	2	21	1	0	0	0	0	1	0	0	0	1208	1754	61	4	2665	4	ATRX	23	76889125	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	1239324	76889125	78381435	877	2302										
BRWD3	254065	broad.mit.edu	37	chrX	79973119	79973119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	accaccactcttctgctccaCgccatgagatctctttcagt	5	16	4	1	rs369118921		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:79973119C>T	ENST00000373275.4	-	19	2400	c.2184G>A	c.(2182-2184)gcG>gcA	p.A728A	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	728					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						TTCTGCTCCACGCCATGAGAT	0.393																																						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.(2182-2184)gcG>gcA		bromodomain and WD repeat domain containing 3		C		0,3835		0,0,1632,571	186	160	169		2184	-3.3	1	X		169	3,6725		0,3,2425,1872	no	coding-synonymous	BRWD3	NM_153252.4		0,3,4057,2443	TT,TC,CC,C		0.0446,0.0,0.0284		728/1803	79973119	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	254065							g.chrX:79973119C>T		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.2184G>A	X.37:g.79973119C>T			Somatic				BRWD3_ENST00000473691.1_5'UTR	p.A728A	NM_153252.4	NP_694984.4	WXS	Illumina GAIIx	Phase_I	Q6RI45	BRWD3_HUMAN			19	2400	-			728					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.2184G>A	CCDS14447.1																																																																																				0.393	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		56	88	0	0	0	1	0	56	88					T	79973119	C	T	79973119	2	4	21	1	0	0	0	0	0	0	0	1	1528	523	19	1		1	BRWD3	23	79973119	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	3083994	79973119	75297441	878	2303										
CYLC1	1538	broad.mit.edu	37	chrX	83129489	83129489	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aagactacattcaatgaaaaAggggaaaaagcaagtacagg	10	5	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:83129489A>G	ENST00000329312.4	+	4	1810	c.1773A>G	c.(1771-1773)aaA>aaG	p.K591K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	591					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TCAATGAAAAAGGGGAAAAAG	0.418																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1771-1773)aaA>aaG		cylicin, basic protein of sperm head cytoskeleton 1							67	59	61					X																	83129489		2202	4299	6501	SO:0001819	synonymous_variant	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129489A>G	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1773A>G	X.37:g.83129489A>G			Somatic					p.K591K	NM_021118.1	NP_066941.1	WXS	Illumina GAIIx	Phase_I	P35663	CYLC1_HUMAN			4	1810	+			591					A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	c.1773A>G	CCDS35341.1																																																																																				0.418	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		32	25	0	0	0	1	0	32	25					G	83129489	A	G	83129489	2	3	21	1	0	0	0	0	0	0	0	1	4143	69	3	4		4	CYLC1	23	83129489	Silent	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	3156370	83129489	72141071	879	2304										
RPA4	29935	broad.mit.edu	37	chrX	96139445	96139445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ctaaggtccgaattcaggacGttgtaccgtgtaatgtgaac	11	8	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:96139445G>A	ENST00000373040.3	+	1	539	c.136G>A	c.(136-138)Gtt>Att	p.V46I	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	46					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						AATTCAGGACGTTGTACCGTG	0.498								Other identified genes with known or suspected DNA repair function																														ENST00000373040.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						c.(136-138)Gtt>Att	Other identified genes with known or suspected DNA repair function	replication protein A4, 30kDa							150	122	131					X																	96139445		2203	4300	6503	SO:0001583	missense	29935				DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	g.chrX:96139445G>A	U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.136G>A	X.37:g.96139445G>A	ENSP00000362131:p.Val46Ile		Somatic				DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000324765.8_Intron	p.V46I	NM_013347.4	NP_037479.1	WXS	Illumina GAIIx	Phase_I	Q13156	RFA4_HUMAN			1	539	+			46					Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	37	c.136G>A	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.664129	0.00765	.	.	ENSG00000204086	ENST00000373040	T	0.40476	1.03	3.57	-7.14	0.01527	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.09818	0.0241	N	0.00729	-1.24	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.33752	-0.9856	9	0.02654	T	1	-25.7425	10.1898	0.43019	0.1977:0.1444:0.6579:0.0	.	46	Q13156	RFA4_HUMAN	I	46	ENSP00000362131:V46I	ENSP00000362131:V46I	V	+	1	0	RPA4	96026101	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.468000	0.06656	-1.981000	0.00989	-1.203000	0.01651	GTT		0.498	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347		38	40	0	0	0	1	0	38	40					A	96139445	G	A	96139445	3	1	21	1	0	0	0	0	1	0	0	0	13554	1145	40	1	138	1	RPA4	23	96139445	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	13009956	96139445	59131115	880	2305										
ARMCX2	9823	broad.mit.edu	37	chrX	100911796	100911796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ccccagtgtgagccccagggGttgctttcttggcagctgat	13	12	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:100911796G>A	ENST00000328766.5	-	5	1232	c.779C>T	c.(778-780)aCc>aTc	p.T260I	ARMCX2_ENST00000356824.4_Missense_Mutation_p.T260I|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.T260I	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	260	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						AGCCCCAGGGGTTGCTTTCTT	0.602																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(778-780)aCc>aTc		armadillo repeat containing, X-linked 2							82	79	80					X																	100911796		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911796G>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.779C>T	X.37:g.100911796G>A	ENSP00000331662:p.Thr260Ile		Somatic				ARMCX2_ENST00000330154.2_Missense_Mutation_p.T260I|ARMCX2_ENST00000356824.4_Missense_Mutation_p.T260I	p.T260I	NM_014782.5	NP_055597.1	WXS	Illumina GAIIx	Phase_I	Q7L311	ARMX2_HUMAN			5	1232	-			260			Ala-rich.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.779C>T	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	G	5.614	0.298079	0.10622	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.36520	1.25;1.25;1.25	4.43	4.43	0.53597	.	0.241583	0.23049	N	0.052518	T	0.23289	0.0563	N	0.14661	0.345	0.09310	N	1	B	0.26400	0.148	B	0.24269	0.052	T	0.15694	-1.0428	10	0.38643	T	0.18	-3.6275	14.1741	0.65529	0.0:0.0:1.0:0.0	.	260	Q7L311	ARMX2_HUMAN	I	260	ENSP00000331662:T260I;ENSP00000328631:T260I;ENSP00000349281:T260I	ENSP00000331662:T260I	T	-	2	0	ARMCX2	100798452	0.859000	0.29813	0.096000	0.21009	0.090000	0.18270	2.578000	0.46051	2.139000	0.66308	0.544000	0.68410	ACC		0.602	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		47	102	0	0	0	1	0	47	102					A	100911796	G	A	100911796	3	1	21	1	0	0	0	0	1	0	0	0	960	1261	44	3	1123	3	ARMCX2	23	100911796	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	4772351	100911796	54358764	881	2306										
MCART6	401612	broad.mit.edu	37	chrX	103349203	103349203	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcccacaggcttggcatgttCtgccatccaatatgggactg	11	12	1	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:103349203C>A	ENST00000357421.4	-	2	918	c.738G>T	c.(736-738)caG>caT	p.Q246H		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	246					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											TTGGCATGTTCTGCCATCCAA	0.527																																						ENST00000357421.4																			0											c.(736-738)caG>caT		solute carrier family 25, member 53							52	44	47					X																	103349203		2203	4300	6503	SO:0001583	missense	401612				transport	integral to membrane|mitochondrial inner membrane		g.chrX:103349203C>A		CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"Solute carriers"	31894	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 6"	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.738G>T	X.37:g.103349203C>A	ENSP00000361681:p.Gln246His		Somatic					p.Q246H	NM_001012755.3	NP_001012773.2	WXS	Illumina GAIIx	Phase_I	Q5H9E4	MCAR6_HUMAN			2	918	-			246					B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	c.738G>T	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	c	11.88	1.769682	0.31320	.	.	ENSG00000176274	ENST00000357421	T	0.79454	-1.27	4.18	2.36	0.29203	Mitochondrial carrier domain (2);	0.212173	0.40818	N	0.001012	T	0.63558	0.2521	L	0.36672	1.1	0.33508	D	0.590717	B	0.02656	0.0	B	0.04013	0.001	T	0.60475	-0.7256	10	0.46703	T	0.11	-25.0101	5.1419	0.14963	0.0:0.6719:0.2069:0.1212	.	246	Q5H9E4	MCAR6_HUMAN	H	246	ENSP00000361681:Q246H	ENSP00000361681:Q246H	Q	-	3	2	MCART6	103235859	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.878000	0.28126	0.346000	0.23899	0.594000	0.82650	CAG		0.527	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755		24	48	1	0	1.22574e-08	1	1.28894e-08	24	48					A	103349203	C	A	103349203	3	1	21	1	0	0	0	0	1	0	0	0	9380	912	32	2	189	2	MCART6	23	103349203	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2437407	103349203	51921357	882	2307										
ESX1	80712	broad.mit.edu	37	chrX	103495020	103495020	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggtggcagaggcgccatgggCggcccgggtggcagaggcgc	22	11	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:103495020C>T	ENST00000372588.4	-	4	1193	c.1110G>A	c.(1108-1110)ccG>ccA	p.P370P		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	370	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)	p.P370P(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCGCCATGGGCGGCCCGGGTG	0.697																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			1	Substitution - coding silent(1)	p.P370P(1)	lung(1)	endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(1108-1110)ccG>ccA		ESX homeobox 1							24	23	23					X																	103495020		2203	4300	6503	SO:0001819	synonymous_variant	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495020C>T	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.1110G>A	X.37:g.103495020C>T			Somatic					p.P370P	NM_153448.3	NP_703149.1	WXS	Illumina GAIIx	Phase_I	Q8N693	ESX1_HUMAN			4	1193	-			370			15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.		B0QYU3|Q7Z6K7	Silent	SNP	ENST00000372588.4	37	c.1110G>A	CCDS14516.1																																																																																				0.697	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		27	37	0	0	0	1	0	27	37					T	103495020	C	T	103495020	2	4	21	1	0	0	0	0	0	0	0	1	5265	755	27	1		1	ESX1	23	103495020	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	145817	103495020	51775540	883	2308										
MORC4	79710	broad.mit.edu	37	chrX	106184836	106184836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	ggagatagctgacgtggataCgtagccgcgtaagctttgcc	14	9	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:106184836C>T	ENST00000355610.4	-	17	2961	c.2687G>A	c.(2686-2688)cGt>cAt	p.R896H	MORC4_ENST00000255495.7_Silent_p.T883T|MORC4_ENST00000535534.1_Silent_p.T631T	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	896						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GACGTGGATACGTAGCCGCGT	0.498																																						ENST00000355610.4																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(2686-2688)cGt>cAt		MORC family CW-type zinc finger 4							128	99	108					X																	106184836		2203	4300	6503	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106184836C>T	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 2", "zinc finger, CW type with coiled-coil domain 2"	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.2687G>A	X.37:g.106184836C>T	ENSP00000347821:p.Arg896His		Somatic				MORC4_ENST00000255495.7_Silent_p.T883T|MORC4_ENST00000535534.1_Silent_p.T631T	p.R896H	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	WXS	Illumina GAIIx	Phase_I	Q8TE76	MORC4_HUMAN			17	2961	-			896					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.2687G>A	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	c	18.04	3.533849	0.64972	.	.	ENSG00000133131	ENST00000355610	T	0.44881	0.91	5.07	5.07	0.68467	.	0.000000	0.56097	D	0.000025	T	0.60560	0.2278	M	0.68593	2.085	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.64659	-0.6355	10	0.87932	D	0	-7.103	12.9085	0.58166	0.0:1.0:0.0:0.0	.	896	Q8TE76	MORC4_HUMAN	H	896	ENSP00000347821:R896H	ENSP00000347821:R896H	R	-	2	0	MORC4	106071492	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.264000	0.58859	2.104000	0.64026	0.431000	0.28591	CGT		0.498	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		19	38	0	0	0	1	0	19	38					T	106184836	C	T	106184836	3	4	21	1	0	0	0	0	1	0	0	0	9713	536	19	1	130	1	MORC4	23	106184836	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2689816	106184836	49085724	884	2309										
RBM41	55285	broad.mit.edu	37	chrX	106332030	106332030	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cttggtaaaaactttccaggTtgttcatgggatcacctttg	9	8	2	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:106332030T>C	ENST00000372479.3	-	5	593	c.563A>G	c.(562-564)aAc>aGc	p.N188S	RBM41_ENST00000203616.8_Missense_Mutation_p.N212S|RBM41_ENST00000372487.1_Missense_Mutation_p.N188S	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	188							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						ACTTTCCAGGTTGTTCATGGG	0.408																																						ENST00000372487.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(562-564)aAc>aGc		RNA binding motif protein 41							90	81	84					X																	106332030		2203	4300	6503	SO:0001583	missense	55285						nucleotide binding|RNA binding	g.chrX:106332030T>C	BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"RNA binding motif (RRM) containing"	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.563A>G	X.37:g.106332030T>C	ENSP00000361557:p.Asn188Ser		Somatic				RBM41_ENST00000372479.3_Missense_Mutation_p.N188S|RBM41_ENST00000203616.8_Missense_Mutation_p.N212S	p.N188S	NM_001171080.1	NP_001164551.1	WXS	Illumina GAIIx	Phase_I	Q96IZ5	RBM41_HUMAN			5	589	-			188					Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Missense_Mutation	SNP	ENST00000372479.3	37	c.563A>G	CCDS14526.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.789836	0.31685	.	.	ENSG00000089682	ENST00000372487;ENST00000372479;ENST00000203616	T;T	0.23552	1.9;1.94	6.07	6.07	0.98685	.	0.230651	0.45126	D	0.000387	T	0.16128	0.0388	N	0.14661	0.345	0.32017	N	0.601328	B	0.24533	0.105	B	0.15870	0.014	T	0.10359	-1.0633	10	0.54805	T	0.06	.	11.7407	0.51790	0.0:0.0:0.0:1.0	.	188	Q96IZ5	RBM41_HUMAN	S	188;188;212	ENSP00000361565:N188S;ENSP00000361557:N188S	ENSP00000203616:N212S	N	-	2	0	RBM41	106218686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.667000	0.61561	2.046000	0.60703	0.486000	0.48141	AAC		0.408	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1	NM_018301		31	45	0	0	0	1	0	31	45					C	106332030	T	C	106332030	3	2	21	1	0	0	0	0	1	0	0	0	13150	1725	60	4	699	4	RBM41	23	106332030	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	147194	106332030	48938530	885	2310										
COL4A6	1288	broad.mit.edu	37	chrX	107420159	107420159	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggcctggatttccaggaagGccttttagccctggcagccc	12	13	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:107420159G>A	ENST00000372216.4	-	28	2701	c.2601C>T	c.(2599-2601)ggC>ggT	p.G867G	COL4A6_ENST00000545689.1_Silent_p.G866G|COL4A6_ENST00000538570.1_Silent_p.G866G|COL4A6_ENST00000334504.7_Silent_p.G866G|COL4A6_ENST00000394872.2_Silent_p.G867G	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	867	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTCCAGGAAGGCCTTTTAGCC	0.532									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000334504.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(2596-2598)ggC>ggT		collagen, type IV, alpha 6							140	138	139					X																	107420159		2203	4300	6503	SO:0001819	synonymous_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107420159G>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2601C>T	X.37:g.107420159G>A			Somatic				COL4A6_ENST00000372216.4_Silent_p.G867G|COL4A6_ENST00000545689.1_Silent_p.G866G|COL4A6_ENST00000394872.2_Silent_p.G867G|COL4A6_ENST00000538570.1_Silent_p.G866G	p.G866G	NM_033641.2	NP_378667.1	WXS	Illumina GAIIx	Phase_I	Q14031	CO4A6_HUMAN			28	2831	-			867			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.2598C>T	CCDS14541.1																																																																																				0.532	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			89	164	0	0	0	1	0	89	164					A	107420159	G	A	107420159	2	1	21	1	0	0	0	0	0	0	0	1	3697	1190	42	3		3	COL4A6	23	107420159	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	1088129	107420159	47850401	886	2311										
RGAG1	57529	broad.mit.edu	37	chrX	109694816	109694816	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgaagtaatgtccacaccgcTactgtcagtcccagatgctg	9	12	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:109694816T>C	ENST00000465301.2	+	3	1217	c.971T>C	c.(970-972)cTa>cCa	p.L324P	RGAG1_ENST00000540313.1_Missense_Mutation_p.L324P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	324										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TCCACACCGCTACTGTCAGTC	0.502																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(970-972)cTa>cCa		retrotransposon gag domain containing 1							258	236	244					X																	109694816		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694816T>C	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.971T>C	X.37:g.109694816T>C	ENSP00000419786:p.Leu324Pro		Somatic				RGAG1_ENST00000540313.1_Missense_Mutation_p.L324P	p.L324P	NM_020769.2	NP_065820.1	WXS	Illumina GAIIx	Phase_I	Q8NET4	RGAG1_HUMAN			3	1217	+			324					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.971T>C	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.801390	0.50315	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.60171	0.21;0.21	4.42	2.0	0.26442	.	0.272394	0.19739	N	0.107173	T	0.55226	0.1907	L	0.29908	0.895	0.20489	N	0.999897	D	0.67145	0.996	D	0.64410	0.925	T	0.40308	-0.9570	9	.	.	.	-2.9105	4.3244	0.11032	0.1785:0.1019:0.0:0.7196	.	324	Q8NET4	RGAG1_HUMAN	P	324	ENSP00000419786:L324P;ENSP00000441452:L324P	.	L	+	2	0	RGAG1	109581472	0.002000	0.14202	0.000000	0.03702	0.371000	0.29859	1.055000	0.30467	0.293000	0.22520	0.486000	0.48141	CTA		0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		36	364	0	0	0	1	0	36	364					C	109694816	T	C	109694816	3	2	21	1	0	0	0	0	1	0	0	0	13289	1522	53	4	973	4	RGAG1	23	109694816	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	2274657	109694816	45575744	887	2312										
LUZP4	51213	broad.mit.edu	37	chrX	114536597	114536597	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gagttagaagggacaaatgcTgaagaagaaaagaataaaag	12	2	0	5			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:114536597T>C	ENST00000371920.3	+	2	139	c.132T>C	c.(130-132)gcT>gcC	p.A44A	LUZP4_ENST00000451986.2_Missense_Mutation_p.L2P	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	44						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GGACAAATGCTGAAGAAGAAA	0.333																																						ENST00000451986.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						c.(4-6)cTg>cCg		leucine zipper protein 4							117	110	112					X																	114536597		2203	4300	6503	SO:0001819	synonymous_variant	51213					nucleus		g.chrX:114536597T>C	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.132T>C	X.37:g.114536597T>C			Somatic				LUZP4_ENST00000371920.3_Silent_p.A44A	p.L2P			WXS	Illumina GAIIx	Phase_I	Q9P127	LUZP4_HUMAN			2	165	+			0					B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	c.5T>C	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	T	2.264	-0.368486	0.05069	.	.	ENSG00000102021	ENST00000451986	T	0.58210	0.35	2.73	1.51	0.23008	.	.	.	.	.	T	0.63058	0.2479	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.66351	0.943	T	0.50482	-0.8823	8	0.87932	D	0	.	4.5125	0.11919	0.2933:0.0:0.0:0.7066	.	2	B3KSD6	.	P	2	ENSP00000411212:L2P	ENSP00000411212:L2P	L	+	2	0	LUZP4	114442853	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.284000	0.18864	0.327000	0.23409	0.356000	0.21956	CTG		0.333	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		52	94	0	0	0	1	0	52	94					C	114536597	T	C	114536597	2	2	21	1	0	0	0	0	0	0	0	1	9097	1567	55	4		4	LUZP4	23	114536597	Silent	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	4841781	114536597	40733963	888	2313										
FRMD7	90167	broad.mit.edu	37	chrX	131212901	131212903	+	In_Frame_Del	DEL	TCC	TCC	-													0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgtcacctccaatgcagaatTcctcctcctactctccagca							TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:131212901_131212903delTCC	ENST00000298542.4	-	12	1317_1319	c.1142_1144delGGA	c.(1141-1146)aggaat>aat	p.R381del	FRMD7_ENST00000370879.1_In_Frame_Del_p.R261del|FRMD7_ENST00000464296.1_In_Frame_Del_p.R366del	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	381					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)					aatgcagaattcctcctcctact	0.498																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1141-1146)aat>a		FERM domain containing 7																																				SO:0001651	inframe_deletion	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212901_131212903delTCC	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.1142_1144delGGA	X.37:g.131212907_131212909delTCC	ENSP00000298542:p.Arg381del		Somatic				FRMD7_ENST00000370879.1_In_Frame_Del_p.RN261del|FRMD7_ENST00000464296.1_In_Frame_Del_p.RN366del	p.RN381del	NM_194277.2	NP_919253.1	WXS	Illumina GAIIx	Phase_I	Q6ZUT3	FRMD7_HUMAN			12	1317_1319	-	Acute lymphoblastic leukemia(192;0.000127)		381					C0LLJ3|Q5JX99	In_Frame_Del	DEL	ENST00000298542.4	37	c.1142_1144delGGA	CCDS35397.1																																																																																				0.498	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		12	298						12	298	---	---	---	---	-	131212903	TCC	-	131212901	7	5	21	1	0	1	0	1	0	0	0	0	6063	1783	62	0	1004	0	FRMD7	23	131212901	In_Frame_Del	DEL	TCC	TCGA-N7-A4Y0-01A-12D-A28R-08	16676304	131212901	24057659	889	2314										
RBMX	27316	broad.mit.edu	37	chrX	135960091	135960091	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tacccatgtgtcctccccgtGagggaggtcccctggttcct	11	15	0	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:135960091G>A	ENST00000320676.7	-	4	525	c.371C>T	c.(370-372)tCa>tTa	p.S124L	SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000565438.1_5'UTR|RBMX_ENST00000562646.1_Missense_Mutation_p.S124L|RBMX_ENST00000570135.1_Intron|RBMX_ENST00000431446.3_Intron	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	124					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)					TCCTCCCCGTGAGGGAGGTCC	0.547																																						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.(370-372)tCa>tTa		RNA binding motif protein, X-linked							74	70	71					X																	135960091		2203	4300	6503	SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135960091G>A		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.371C>T	X.37:g.135960091G>A	ENSP00000359645:p.Ser124Leu		Somatic				RBMX_ENST00000320676.7_Missense_Mutation_p.S124L|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Intron|RBMX_ENST00000565438.1_5'UTR	p.S124L			WXS	Illumina GAIIx	Phase_I	P38159	HNRPG_HUMAN			4	525	-	Acute lymphoblastic leukemia(192;0.000127)		124					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.371C>T	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.117753	0.77323	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	T	0.77489	-1.1	5.65	5.65	0.86999	.	0.418941	0.22152	U	0.063918	D	0.87981	0.6315	M	0.82323	2.585	0.80722	D	1	P;D	0.54601	0.939;0.967	P;P	0.60789	0.637;0.879	D	0.89535	0.3788	10	0.87932	D	0	.	16.9816	0.86329	0.0:0.0:1.0:0.0	.	124;111	P38159;Q8N8Y7	HNRPG_HUMAN;.	L	124;111	ENSP00000359645:S124L	ENSP00000359645:S124L	S	-	2	0	RBMX	135787757	1.000000	0.71417	0.878000	0.34440	0.990000	0.78478	7.967000	0.87967	2.388000	0.81334	0.504000	0.49776	TCA		0.547	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		36	52	0	0	0	1	0	36	52					A	135960091	G	A	135960091	3	1	21	1	0	0	0	0	1	0	0	0	13166	1294	45	3	883	3	RBMX	23	135960091	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	4747190	135960091	19310469	890	2315										
ATP11C	286410	broad.mit.edu	37	chrX	138882232	138882232	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aacttacctggcaacagcctCaagactattactgtagatat	6	10	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:138882232C>A	ENST00000327569.3	-	8	804	c.706G>T	c.(706-708)Gag>Tag	p.E236*	ATP11C_ENST00000370557.1_Nonsense_Mutation_p.E233*|ATP11C_ENST00000359686.2_Nonsense_Mutation_p.E236*|ATP11C_ENST00000361648.2_Nonsense_Mutation_p.E236*|ATP11C_ENST00000370543.1_Nonsense_Mutation_p.E236*|ATP11C_ENST00000460773.1_5'Flank	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	236					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GCAACAGCCTCAAGACTATTA	0.368																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(697-699)Gag>Tag		ATPase, class VI, type 11C							73	68	70					X																	138882232		2203	4300	6503	SO:0001587	stop_gained	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138882232C>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.706G>T	X.37:g.138882232C>A	ENSP00000332756:p.Glu236*		Somatic				ATP11C_ENST00000359686.2_Nonsense_Mutation_p.E236*|ATP11C_ENST00000361648.2_Nonsense_Mutation_p.E236*|ATP11C_ENST00000370543.1_Nonsense_Mutation_p.E236*|ATP11C_ENST00000327569.3_Nonsense_Mutation_p.E236*	p.E233*			WXS	Illumina GAIIx	Phase_I	Q8NB49	AT11C_HUMAN			8	1724	-	Acute lymphoblastic leukemia(192;0.000127)		236					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Nonsense_Mutation	SNP	ENST00000327569.3	37	c.697G>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	38	7.213490	0.98139	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	.	.	.	5.88	5.02	0.67125	.	0.482216	0.24178	N	0.040828	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	13.1366	0.59413	0.0:0.9219:0.0:0.0781	.	.	.	.	X	233;236;236;236;236	.	ENSP00000332756:E236X	E	-	1	0	ATP11C	138709898	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	5.048000	0.64238	1.233000	0.43693	0.600000	0.82982	GAG		0.368	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		35	68	1	0	2.40579e-17	1	2.60801e-17	35	68					A	138882232	C	A	138882232	4	1	21	1	0	0	0	0	0	1	0	0	1121	835	29	2	2847	2	ATP11C	23	138882232	Nonsense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	2922141	138882232	16388328	891	2316										
PASD1	139135	broad.mit.edu	37	chrX	150840935	150840935	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gctgcaagagcagccactgaAgcataatgtcatcgtgggga	13	9	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:150840935A>C	ENST00000370357.4	+	14	1963	c.1718A>C	c.(1717-1719)aAg>aCg	p.K573T		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	573						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)					cagccactgaagcaTAATGTC	0.522																																						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.(1717-1719)aAg>aCg		PAS domain containing 1							128	95	106					X																	150840935		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150840935A>C	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.1718A>C	X.37:g.150840935A>C	ENSP00000359382:p.Lys573Thr		Somatic					p.K573T	NM_173493.2	NP_775764.2	WXS	Illumina GAIIx	Phase_I	Q8IV76	PASD1_HUMAN			14	1963	+	Acute lymphoblastic leukemia(192;6.56e-05)		573					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.1718A>C	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	A	11.04	1.522970	0.27211	.	.	ENSG00000166049	ENST00000370357	T	0.19669	2.13	1.88	-0.819	0.10829	.	.	.	.	.	T	0.12561	0.0305	N	0.24115	0.695	0.09310	N	1	P	0.34977	0.478	B	0.38020	0.263	T	0.25676	-1.0125	9	0.66056	D	0.02	.	2.3355	0.04246	0.4959:0.3038:0.2003:0.0	.	573	Q8IV76	PASD1_HUMAN	T	573	ENSP00000359382:K573T	ENSP00000359382:K573T	K	+	2	0	PASD1	150591591	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.652000	0.05366	-0.271000	0.09272	-0.441000	0.05720	AAG		0.522	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		31	39	0	0	0	1	0	31	39					C	150840935	A	C	150840935	3	2	21	1	0	0	0	0	1	0	0	0	11480	72	3	4	1768	4	PASD1	23	150840935	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	11958703	150840935	4429625	892	2317										
GABRE	2564	broad.mit.edu	37	chrX	151123932	151123932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	cagagcgcagaagcagaagaCgaagcagatggcgatataga	14	7	0	6			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:151123932C>T	ENST00000370328.3	-	8	1098	c.1045G>A	c.(1045-1047)Gtc>Atc	p.V349I	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.V349I	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	349					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)	AAGCAGAAGACGAAGCAGATG	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.(1045-1047)Gtc>Atc		gamma-aminobutyric acid (GABA) A receptor, epsilon							135	117	123					X																	151123932		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:151123932C>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.1045G>A	X.37:g.151123932C>T	ENSP00000359353:p.Val349Ile		Somatic				GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.V349I	p.V349I			WXS	Illumina GAIIx	Phase_I	P78334	GBRE_HUMAN			8	1098	-	Acute lymphoblastic leukemia(192;6.56e-05)		349					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.1045G>A	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.353262	0.01256	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.86627	-2.15;-2.15	5.78	-4.0	0.04057	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.784002	0.11159	N	0.593227	T	0.71517	0.3349	N	0.21194	0.64	0.58432	D	0.999995	B	0.29115	0.233	B	0.20384	0.029	T	0.47947	-0.9077	10	0.31617	T	0.26	.	5.7442	0.18110	0.2429:0.1827:0.0:0.5744	.	349	P78334	GBRE_HUMAN	I	349	ENSP00000359353:V349I;ENSP00000359350:V349I	ENSP00000359350:V349I	V	-	1	0	GABRE	150874588	0.215000	0.23574	0.040000	0.18447	0.051000	0.14879	-0.408000	0.07169	-0.929000	0.03757	-0.191000	0.12829	GTC		0.488	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		57	60	0	0	0	1	0	57	60					T	151123932	C	T	151123932	3	4	21	1	0	0	0	0	1	0	0	0	6178	536	19	1	483	1	GABRE	23	151123932	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	282997	151123932	4146628	893	2318										
MAGEA12	4111	broad.mit.edu	37	chrX	151900216	151900216	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	aggaggcctgtcttgggcacGatctgattgtcgcccagcag	14	11	2	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:151900216G>A	ENST00000357916.4	-	2	740	c.585C>T	c.(583-585)atC>atT	p.I195I	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.I195I|MAGEA12_ENST00000393900.3_Silent_p.I195I	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	195	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.I195I(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGGCACGATCTGATTGT	0.577																																						ENST00000393900.3																			1	Substitution - coding silent(1)	p.I195I(1)	lung(1)	breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(583-585)atC>atT		melanoma antigen family A, 12							150	143	145					X																	151900216		2203	4300	6503	SO:0001819	synonymous_variant	4111							g.chrX:151900216G>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"cancer/testis antigen family 1, member 12"	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.585C>T	X.37:g.151900216G>A			Somatic				MAGEA12_ENST00000393869.3_Silent_p.I195I|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Silent_p.I195I	p.I195I	NM_001166386.1	NP_001159858.1	WXS	Illumina GAIIx	Phase_I	P43365	MAGAC_HUMAN			3	938	-	Acute lymphoblastic leukemia(192;6.56e-05)		195			MAGE.		Q9NSD3	Silent	SNP	ENST00000357916.4	37	c.585C>T	CCDS14710.1																																																																																				0.577	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		99	136	0	0	0	1	0	99	136					A	151900216	G	A	151900216	2	1	21	1	0	0	0	0	0	0	0	1	9175	1048	37	1		1	MAGEA12	23	151900216	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	776284	151900216	3370344	894	2319										
CETN2	1069	broad.mit.edu	37	chrX	151997817	151997817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caaagcccagggccctcattGccacctataaagaaaacagg	8	13	1	1			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:151997817G>A	ENST00000370277.3	-	3	233	c.167C>T	c.(166-168)gCa>gTa	p.A56V	NSDHL_ENST00000370274.3_5'Flank|NSDHL_ENST00000440023.1_5'Flank|CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	56	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)|regulation of cytokinesis (GO:0032465)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|intracellular (GO:0005622)|photoreceptor connecting cilium (GO:0032391)|XPC complex (GO:0071942)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCTCATTGCCACCTATAA	0.393								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000370277.3																			0				breast(1)|lung(4)|prostate(1)|skin(1)	7						c.(166-168)gCa>gTa	Direct reversal of damage;Nucleotide excision repair (NER)	centrin, EF-hand protein, 2							53	50	51					X																	151997817		2203	4300	6503	SO:0001583	missense	1069				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chrX:151997817G>A	X72964	CCDS14716.1	Xq28	2013-01-10			ENSG00000147400	ENSG00000147400		"EF-hand domain containing"	1867	protein-coding gene	gene with protein product		300006		CALT		7713520, 8597638	Standard	NM_004344		Approved	CEN2	uc004fgq.3	P41208	OTTHUMG00000024246	ENST00000370277.3:c.167C>T	X.37:g.151997817G>A	ENSP00000359300:p.Ala56Val		Somatic				CETN2_ENST00000493482.1_5'UTR	p.A56V	NM_004344.1	NP_004335.1	WXS	Illumina GAIIx	Phase_I	P41208	CETN2_HUMAN			3	233	-	Acute lymphoblastic leukemia(192;6.56e-05)		56			EF-hand 1.		B2R4T4|Q53XW1	Missense_Mutation	SNP	ENST00000370277.3	37	c.167C>T	CCDS14716.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181948	0.78677	.	.	ENSG00000147400	ENST00000370277	T	0.71698	-0.59	5.43	3.67	0.42095	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.56077	0.1961	N	0.25789	0.76	0.80722	D	1	B	0.33528	0.416	B	0.37731	0.257	T	0.41197	-0.9522	10	0.17369	T	0.5	.	9.2533	0.37568	0.1808:0.0:0.8192:0.0	.	56	P41208	CETN2_HUMAN	V	56	ENSP00000359300:A56V	ENSP00000359300:A56V	A	-	2	0	CETN2	151748473	1.000000	0.71417	0.953000	0.39169	0.981000	0.71138	7.822000	0.86651	0.490000	0.27771	0.600000	0.82982	GCA		0.393	CETN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061197.1	NM_004344		15	41	0	0	0	1	0	15	41					A	151997817	G	A	151997817	3	1	21	1	0	0	0	0	1	0	0	0	3277	1319	46	3	363	3	CETN2	23	151997817	Missense_Mutation	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	97601	151997817	3272743	895	2320										
SLC6A8	6535	broad.mit.edu	37	chrX	152960290	152960290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gccctgtcctccatgctgtgCgtgccgctgcacctcctggg	12	17	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:152960290C>T	ENST00000253122.5	+	12	2189	c.1713C>T	c.(1711-1713)tgC>tgT	p.C571C	SLC6A8_ENST00000430077.2_Silent_p.C456C|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	571					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CCATGCTGTGCGTGCCGCTGC	0.662																																						ENST00000253122.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(1711-1713)tgC>tgT		solute carrier family 6 (neurotransmitter transporter), member 8	Creatine(DB00148)						36	30	32					X																	152960290		2202	4298	6500	SO:0001819	synonymous_variant	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152960290C>T		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"Solute carriers"	11055	protein-coding gene	gene with protein product	"creatine transporter"	300036	"solute carrier family 6 (neurotransmitter transporter, creatine), member 8"			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1713C>T	X.37:g.152960290C>T			Somatic				SLC6A8_ENST00000430077.2_Silent_p.C456C|SLC6A8_ENST00000485324.1_3'UTR	p.C571C	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	WXS	Illumina GAIIx	Phase_I	P48029	SC6A8_HUMAN			12	2189	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		571					B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	37	c.1713C>T	CCDS14726.1																																																																																				0.662	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			11	19	0	0	0	1	0	11	19					T	152960290	C	T	152960290	2	4	21	1	0	0	0	0	0	0	0	1	14705	776	27	1		1	SLC6A8	23	152960290	Silent	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	962473	152960290	2310270	896	2321										
L1CAM	3897	broad.mit.edu	37	chrX	153129471	153129471	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	gcaggagggagcctcacgcgGcctgagggtgagacaccagc	17	12	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153129471G>A	ENST00000370060.1	-	26	3513	c.3324C>T	c.(3322-3324)ggC>ggT	p.G1108G	L1CAM_ENST00000370057.3_Splice_Site_p.G1108G|L1CAM_ENST00000543994.1_Splice_Site_p.G1110G|L1CAM_ENST00000370055.1_Splice_Site_p.G1103G|L1CAM_ENST00000361699.4_Splice_Site_p.G1108G|L1CAM_ENST00000361981.3_Splice_Site_p.G1103G|L1CAM_ENST00000538883.1_Splice_Site_p.G1110G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1108	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)					GCCTCACGCGGCCTGAGGGTG	0.637																																						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.e26-1		L1 cell adhesion molecule							50	43	45					X																	153129471		2203	4297	6500	SO:0001630	splice_region_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153129471G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3323-1C>T	X.37:g.153129471G>A			Somatic				L1CAM_ENST00000543994.1_Splice_Site_p.G1110_splice|L1CAM_ENST00000538883.1_Splice_Site_p.G1110_splice|L1CAM_ENST00000361699.4_Splice_Site_p.G1108_splice|L1CAM_ENST00000370055.1_Splice_Site_p.G1103_splice|L1CAM_ENST00000370057.3_Splice_Site_p.G1108_splice|L1CAM_ENST00000361981.3_Splice_Site_p.G1103_splice	p.G1108_splice	NM_001278116.1	NP_001265045.1	WXS	Illumina GAIIx	Phase_I	P32004	L1CAM_HUMAN			26	3513	-	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)		1108			Fibronectin type-III 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Splice_Site	SNP	ENST00000370060.1	37	c.3322_splice	CCDS14733.1																																																																																				0.637	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003	Silent	23	37	0	0	0	1	0	23	37					A	153129471	G	A	153129471	5	1	21	1	0	0	0	0	0	0	1	0	8597	1217	42	3	465	3	L1CAM	23	153129471	Splice_Site	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	169181	153129471	2141089	897	2322										
ARHGAP4	393	broad.mit.edu	37	chrX	153179298	153179298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgggctctgggcagaatctcGtcccgcagctccatttcaac	10	14	3	1	rs368446618		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153179298G>A	ENST00000350060.5	-	8	1109	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	ARHGAP4_ENST00000370028.3_Silent_p.D396D|ARHGAP4_ENST00000393721.1_Silent_p.D178D|ARHGAP4_ENST00000537206.1_Silent_p.D333D|ARHGAP4_ENST00000467421.1_5'Flank|ARHGAP4_ENST00000370016.1_Silent_p.D335D	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	356					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAATCTCGTCCCGCAGCT	0.652																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1186-1188)gaC>gaT		Rho GTPase activating protein 4							51	43	46					X																	153179298		2203	4300	6503	SO:0001819	synonymous_variant	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153179298G>A	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1068C>T	X.37:g.153179298G>A			Somatic				ARHGAP4_ENST00000537206.1_Silent_p.D333D|ARHGAP4_ENST00000350060.5_Silent_p.D356D|ARHGAP4_ENST00000370016.1_Silent_p.D335D|ARHGAP4_ENST00000393721.1_Silent_p.D178D	p.D396D	NM_001164741.1	NP_001158213.1	WXS	Illumina GAIIx	Phase_I	P98171	RHG04_HUMAN			9	1245	-	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)		356					Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	c.1188C>T	CCDS14736.1																																																																																				0.652	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		23	37	0	0	0	1	0	23	37					A	153179298	G	A	153179298	2	1	21	1	0	0	0	0	0	0	0	1	885	1136	40	1		1	ARHGAP4	23	153179298	Silent	SNP	G	TCGA-N7-A4Y0-01A-12D-A28R-08	49827	153179298	2091262	898	2323										
NAA10	8260	broad.mit.edu	37	chrX	153196294	153196294	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tagtatttgggctccacttcActgatcctgggggcagaggg	14	9	1	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153196294A>T	ENST00000464845.1	-	7	711	c.393T>A	c.(391-393)agT>agA	p.S131R	NAA10_ENST00000370015.4_Missense_Mutation_p.S131R|NAA10_ENST00000393712.3_Missense_Mutation_p.S131R|NAA10_ENST00000393710.3_5'Flank|NAA10_ENST00000370009.1_Missense_Mutation_p.S116R	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	131	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				DNA packaging (GO:0006323)|internal protein amino acid acetylation (GO:0006475)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleolus (GO:0005730)|nucleus (GO:0005634)	N-acetyltransferase activity (GO:0008080)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GCTCCACTTCACTGATCCTGG	0.587																																					Ovarian(94;1099 1433 38814 45882 51063)	ENST00000464845.1																			0				breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						c.(391-393)agT>agA		N(alpha)-acetyltransferase 10, NatA catalytic subunit							141	120	127					X																	153196294		2203	4300	6503	SO:0001583	missense	8260				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chrX:153196294A>T	BC000308	CCDS14737.1, CCDS59179.1	Xq28	2010-05-07	2010-01-14	2010-01-14	ENSG00000102030	ENSG00000102030	2.3.1.88	"N(alpha)-acetyltransferase subunits"	18704	protein-coding gene	gene with protein product		300013	"ARD1 homolog, N-acetyltransferase (S. cerevisiae)", "ARD1 homolog A, N-acetyltransferase (S. cerevisiae)"	ARD1, ARD1A		7981673, 19660095	Standard	NM_003491		Approved	DXS707, TE2	uc004fjm.2	P41227	OTTHUMG00000024225	ENST00000464845.1:c.393T>A	X.37:g.153196294A>T	ENSP00000417763:p.Ser131Arg		Somatic				NAA10_ENST00000370009.1_Missense_Mutation_p.S116R|NAA10_ENST00000393712.3_Missense_Mutation_p.S131R|NAA10_ENST00000370015.4_Missense_Mutation_p.S131R	p.S131R	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	WXS	Illumina GAIIx	Phase_I	P41227	NAA10_HUMAN			7	711	-			131			N-acetyltransferase.		A6NM98	Missense_Mutation	SNP	ENST00000464845.1	37	c.393T>A	CCDS14737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.18|11.18	1.563372|1.563372	0.27915|0.27915	.|.	.|.	ENSG00000102030|ENSG00000102030	ENST00000464845;ENST00000370015;ENST00000393712;ENST00000370009;ENST00000370011;ENST00000432089|ENST00000545734	T;T;T;T;T;T|.	0.54675|.	1.59;1.59;1.59;0.56;0.56;1.59|.	4.41|4.41	-2.93|-2.93	0.05598|0.05598	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);|.	0.045298|.	0.85682|.	N|.	0.000000|.	T|T	0.39655|0.39655	0.1086|0.1086	L|L	0.31065|0.31065	0.9|0.9	0.54753|0.54753	D|D	0.999985|0.999985	B;B|.	0.15719|.	0.014;0.002|.	B;B|.	0.17098|.	0.017;0.017|.	T|T	0.36986|0.36986	-0.9725|-0.9725	10|6	0.32370|0.02654	T|T	0.25|1	-23.6553|-23.6553	11.4164|11.4164	0.49954|0.49954	0.5971:0.0:0.4029:0.0|0.5971:0.0:0.4029:0.0	.|.	116;131|.	A6NM98;P41227|.	.;NAA10_HUMAN|.	R|E	131;131;131;116;110;125|116	ENSP00000417763:S131R;ENSP00000359032:S131R;ENSP00000377315:S131R;ENSP00000359026:S116R;ENSP00000359028:S110R;ENSP00000413668:S125R|.	ENSP00000359026:S116R|ENSP00000438074:V116E	S|V	-|-	3|2	2|0	NAA10|NAA10	152849488|152849488	0.506000|0.506000	0.26139|0.26139	0.967000|0.967000	0.41034|0.41034	0.960000|0.960000	0.62799|0.62799	-0.177000|-0.177000	0.09796|0.09796	-0.675000|-0.675000	0.05246|0.05246	-0.469000|-0.469000	0.05056|0.05056	AGT|GTG		0.587	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061108.2	NM_003491		64	98	0	0	0	1	0	64	98					T	153196294	A	T	153196294	3	4	21	1	0	0	0	0	1	0	0	0	10125	156	6	4	322	4	NAA10	23	153196294	Missense_Mutation	SNP	A	TCGA-N7-A4Y0-01A-12D-A28R-08	16996	153196294	2074266	899	2324										
FLNA	2316	broad.mit.edu	37	chrX	153588429	153588429	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	caggttccacctgcagcttgCtggggaagttgggcacgggc	16	11	0	0			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153588429C>A	ENST00000369850.3	-	22	3970	c.3734G>T	c.(3733-3735)aGc>aTc	p.S1245I	FLNA_ENST00000360319.4_Missense_Mutation_p.S1245I|FLNA_ENST00000344736.4_Missense_Mutation_p.S1245I|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000422373.1_Missense_Mutation_p.S1245I	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1245					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCAGCTTGCTGGGGAAGTT	0.632																																						ENST00000422373.1																			0				breast(6)	6						c.(3733-3735)aGc>aTc		filamin A, alpha							31	35	34					X																	153588429		2019	4137	6156	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588429C>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.3734G>T	X.37:g.153588429C>A	ENSP00000358866:p.Ser1245Ile		Somatic				FLNA_ENST00000369850.3_Missense_Mutation_p.S1245I|FLNA_ENST00000344736.4_Missense_Mutation_p.S1245I|FLNA_ENST00000360319.4_Missense_Mutation_p.S1245I	p.S1245I	NM_001456.3	NP_001447.2	WXS	Illumina GAIIx	Phase_I	P21333	FLNA_HUMAN			22	3982	-	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)		1245					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3734G>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	9.725	1.160686	0.21538	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.76	4.93	4.93	0.64822	Immunoglobulin-like fold (1);	0.116572	0.56097	D	0.000023	T	0.81541	0.4844	N	0.10874	0.06	0.80722	D	1	B;B	0.31274	0.317;0.018	B;B	0.35550	0.205;0.055	T	0.78465	-0.2193	10	0.14252	T	0.57	.	14.0354	0.64642	0.0:0.8404:0.1596:0.0	.	1245;1245	P21333-2;P21333	.;FLNA_HUMAN	I	1245;1218;1245;1245;1245	ENSP00000353467:S1245I;ENSP00000416926:S1245I;ENSP00000358866:S1245I;ENSP00000358863:S1245I	ENSP00000358863:S1245I	S	-	2	0	FLNA	153241623	0.002000	0.14202	1.000000	0.80357	0.979000	0.70002	0.541000	0.23207	2.046000	0.60703	0.529000	0.55759	AGC		0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			47	58	1	0	2.56175e-15	1	2.76001e-15	47	58					A	153588429	C	A	153588429	3	1	21	1	0	0	0	0	1	0	0	0	5941	797	28	5	4317	5	FLNA	23	153588429	Missense_Mutation	SNP	C	TCGA-N7-A4Y0-01A-12D-A28R-08	392135	153588429	1682131	900	2325										
G6PD	2539	broad.mit.edu	37	chrX	153762334	153762334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0122358175750834	11	1	0.213682128730672	0	0.221347855321907	0.000125622205711194	0.00238682190851269	0	tgaggataacgcaggcgatgTtgtcccggttccagatgggg	16	8	0	2			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153762334T>C	ENST00000393564.2	-	7	798	c.686A>G	c.(685-687)aAc>aGc	p.N229S	G6PD_ENST00000393562.2_Missense_Mutation_p.N259S|G6PD_ENST00000369620.2_Missense_Mutation_p.N229S|G6PD_ENST00000497281.1_5'Flank	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	229					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGGCGATGTTGTCCCGGTT	0.587																																						ENST00000393562.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18						c.(775-777)aAc>aGc		glucose-6-phosphate dehydrogenase							94	74	81					X																	153762334		2203	4300	6503	SO:0001583	missense	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153762334T>C	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.686A>G	X.37:g.153762334T>C	ENSP00000377194:p.Asn229Ser		Somatic				G6PD_ENST00000369620.2_Missense_Mutation_p.N229S|G6PD_ENST00000393564.2_Missense_Mutation_p.N229S	p.N259S	NM_000402.3	NP_000393.4	WXS	Illumina GAIIx	Phase_I	P11413	G6PD_HUMAN			7	1159	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		229					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	c.776A>G	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.280482	0.23392	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.98234	-4.81;-4.81;-4.81;-4.81;-4.81;-4.81	5.51	4.34	0.51931	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.094927	0.64402	D	0.000001	D	0.93674	0.7979	N	0.16790	0.44	0.44469	D	0.997409	B;B	0.26363	0.147;0.121	B;B	0.22152	0.038;0.023	D	0.89158	0.3528	10	0.27082	T	0.32	.	8.6755	0.34176	0.0:0.0916:0.0:0.9083	.	229;259	P11413;P11413-3	G6PD_HUMAN;.	S	259;229;229;229;230;230;229	ENSP00000377192:N259S;ENSP00000377194:N229S;ENSP00000358633:N229S;ENSP00000395599:N230S;ENSP00000400648:N230S;ENSP00000394690:N229S	ENSP00000291567:N229S	N	-	2	0	G6PD	153415528	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	3.471000	0.53107	0.724000	0.32296	-0.537000	0.04273	AAC		0.587	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		39	69	0	0	0	1	0	39	69					C	153762334	T	C	153762334	3	2	21	1	0	0	0	0	1	0	0	0	6154	1725	60	4	889	4	G6PD	23	153762334	Missense_Mutation	SNP	T	TCGA-N7-A4Y0-01A-12D-A28R-08	173905	153762334	1508226	901	2326										
CASZ1	54897	broad.mit.edu	37	chr1	10711029	10711029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	cacagtcaggtctagactgcGgtcctgggaggcttcgtggg	16	10	2	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr1:10711029G>A	ENST00000377022.3	-	12	3102	c.2785C>T	c.(2785-2787)Cgc>Tgc	p.R929C	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.R929C	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	929					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)		TCTAGACTGCGGTCCTGGGAG	0.711																																						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.(2785-2787)Cgc>Tgc		castor zinc finger 1							13	18	16					1																	10711029		2194	4290	6484	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10711029G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2785C>T	1.37:g.10711029G>A	ENSP00000366221:p.Arg929Cys		Somatic				CASZ1_ENST00000344008.5_Missense_Mutation_p.R929C|RP4-734G22.3_ENST00000606802.1_RNA	p.R929C	NM_001079843.1	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)	12	3102	-	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)	929					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.2785C>T	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957245	0.73902	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	5.04	5.04	0.67666	.	0.241746	0.43416	D	0.000562	T	0.60945	0.2308	N	0.24115	0.695	0.47994	D	0.999563	D;D	0.76494	0.999;0.998	P;P	0.59056	0.851;0.731	T	0.66480	-0.5913	9	0.87932	D	0	-34.8153	16.9563	0.86260	0.0:0.0:1.0:0.0	.	929;929	Q86V15-2;Q86V15	.;CASZ1_HUMAN	C	929	.	ENSP00000339445:R929C	R	-	1	0	CASZ1	10633616	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	6.049000	0.71053	2.503000	0.84419	0.591000	0.81541	CGC		0.711	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		8	19	0	0	0	1	0	8	19					A	10711029	G	A	10711029	3	1	22	1	0	0	0	0	1	0	0	0	2687	1116	39	1	2538	1	CASZ1	1	10711029	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08		10711029	238539592	1	2327										
PAX7	5081	broad.mit.edu	37	chr1	19018402	19018402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	tacccagacatatacacccgCgaggagctggcgcagaggac	12	13	0	2	rs148641282		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr1:19018402C>T	ENST00000375375.3	+	5	1339	c.741C>T	c.(739-741)cgC>cgT	p.R247R	PAX7_ENST00000400661.3_Silent_p.R245R|PAX7_ENST00000420770.2_Silent_p.R247R	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	247					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|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 cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	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)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TATACACCCGCGAGGAGCTGG	0.607			T	FOXO1A	alveolar rhabdomyosarcoma																																	ENST00000420770.2				Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31						c.(739-741)cgC>cgT		paired box 7							42	38	39					1																	19018402		2202	4299	6501	SO:0001819	synonymous_variant	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19018402C>T	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"Paired boxes", "Homeoboxes / PRD class"	8621	protein-coding gene	gene with protein product		167410	"paired box gene 7"			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.741C>T	1.37:g.19018402C>T			Somatic				PAX7_ENST00000375375.3_Silent_p.R247R|PAX7_ENST00000400661.3_Silent_p.R245R	p.R247R	NM_001135254.1	NP_001128726.1	WXS	Illumina GAIIx	Phase_I	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	5	824	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	247					E9PFV9|Q0VA99|Q2PJS5	Silent	SNP	ENST00000375375.3	37	c.741C>T	CCDS186.1																																																																																				0.607	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		13	20	0	0	0	1	0	13	20					T	19018402	C	T	19018402	2	4	22	1	0	0	0	0	0	0	0	1	11493	755	27	1		1	PAX7	1	19018402	Silent	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	8307373	19018402	230232219	2	2328										
KCNC4	3749	broad.mit.edu	37	chr1	110754451	110754451	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	gcctacgtgctcaactactaCcgcaccggcaagctgcactg	9	16	1	0			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr1:110754451C>T	ENST00000369787.3	+	1	357	c.330C>T	c.(328-330)taC>taT	p.Y110Y	KCNC4_ENST00000413138.3_Silent_p.Y110Y|KCNC4_ENST00000438661.2_Silent_p.Y110Y|KCNC4-AS1_ENST00000455967.1_RNA	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	110					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)		TCAACTACTACCGCACCGGCA	0.677																																						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.(328-330)taC>taT		potassium voltage-gated channel, Shaw-related subfamily, member 4							39	45	43					1																	110754451		2203	4299	6502	SO:0001819	synonymous_variant	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110754451C>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.330C>T	1.37:g.110754451C>T			Somatic				KCNC4_ENST00000438661.2_Silent_p.Y110Y|KCNC4_ENST00000413138.3_Silent_p.Y110Y	p.Y110Y	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)	1	357	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	110					Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	37	c.330C>T	CCDS821.1																																																																																				0.677	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		23	26	0	0	0	1	0	23	26					T	110754451	C	T	110754451	2	4	22	1	0	0	0	0	0	0	0	1	8026	518	18	3		3	KCNC4	1	110754451	Silent	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	91736049	110754451	138496170	3	2329										
RC3H1	149041	broad.mit.edu	37	chr1	173907982	173907982	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	aggaggctgatattctcttgTgtcaaggctgatccatttgg	12	7	2	2	rs184786158		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr1:173907982T>C	ENST00000367696.2	-	20	3630	c.3279A>G	c.(3277-3279)acA>acG	p.T1093T	RC3H1_ENST00000367694.2_Silent_p.T1085T|RC3H1_ENST00000258349.4_Silent_p.T1093T			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1093					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						TATTCTCTTGTGTCAAGGCTG	0.413													T|||	1	0.000199681	8e-04	0	5008	,	,		17425	0		0	False		,,,				2504	0					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.(3277-3279)acA>acG		ring finger and CCCH-type domains 1							117	112	114					1																	173907982		2203	4300	6503	SO:0001819	synonymous_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.chr1:173907982T>C	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.3279A>G	1.37:g.173907982T>C			Somatic				RC3H1_ENST00000367694.2_Silent_p.T1085T|RC3H1_ENST00000258349.4_Silent_p.T1093T	p.T1093T			WXS	Illumina GAIIx	Phase_I	Q5TC82	RC3H1_HUMAN			20	3630	-			1093					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Silent	SNP	ENST00000367696.2	37	c.3279A>G	CCDS30940.1																																																																																				0.413	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		17	19	0	0	0	1	0	17	19					C	173907982	T	C	173907982	2	2	22	1	0	0	0	0	0	0	0	1	13181	1683	59	4		4	RC3H1	1	173907982	Silent	SNP	T	TCGA-N7-A4Y5-01A-12D-A28R-08	63153531	173907982	75342639	4	2330										
FAM5C	339479	broad.mit.edu	37	chr1	190067523	190067523	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	agaggttcatagtaaatgctCtcattaccattgggaccatt	8	8	2	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr1:190067523C>T	ENST00000367462.3	-	8	2157	c.1926G>A	c.(1924-1926)gaG>gaA	p.E642E	BRINP3_ENST00000534846.1_Silent_p.E540E	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	642					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)											AGTAAATGCTCTCATTACCAT	0.418																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1924-1926)gaG>gaA									165	173	170					1																	190067523		2203	4300	6503	SO:0001819	synonymous_variant	0					extracellular region		g.chr1:190067523C>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.1926G>A	1.37:g.190067523C>T			Somatic				FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.E540E	p.E642E	NM_199051.1	NP_950252.1	WXS	Illumina GAIIx	Phase_I	Q76B58	FAM5C_HUMAN			8	2157	-	Prostate(682;0.198)		642					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1926G>A	CCDS1373.1																																																																																				0.418	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		101	5	0	0	0	1	0	101	5					T	190067523	C	T	190067523	2	4	22	1	0	0	0	0	0	0	0	1	5602	912	32	3		3	FAM5C	1	190067523	Silent	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	16159541	190067523	59183098	5	2331										
OBSCN	84033	broad.mit.edu	37	chr1	228511259	228511259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	gcgtctaccgctgcctggccGagaacagcatgggtgtctcc	13	14	2	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr1:228511259G>A	ENST00000422127.1	+	56	15648	c.15604G>A	c.(15604-15606)Gag>Aag	p.E5202K	OBSCN_ENST00000366709.4_Missense_Mutation_p.E2321K|OBSCN_ENST00000570156.2_Missense_Mutation_p.E6159K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E2836K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E5202K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5202	Ig-like 49.				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)				CTGCCTGGCCGAGAACAGCAT	0.582																																						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.(18475-18477)Gag>Aag		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							68	71	70					1																	228511259		2175	4275	6450	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.chr1:228511259G>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.15604G>A	1.37:g.228511259G>A	ENSP00000409493:p.Glu5202Lys		Somatic				OBSCN_ENST00000422127.1_Missense_Mutation_p.E5202K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E2836K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E5202K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E2321K	p.E6159K	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			67	18549	+		Prostate(94;0.0405)	5202			Ig-like 53.		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.18475G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790493	0.90367	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.41	5.41	0.78517	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72606	0.3481	N	0.20610	0.595	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.74503	-0.3644	10	0.51188	T	0.08	.	19.3855	0.94554	0.0:0.0:1.0:0.0	.	5202;5202	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	5202;5202;2836;2321	ENSP00000284548:E5202K;ENSP00000409493:E5202K;ENSP00000355668:E2836K;ENSP00000355670:E2321K	ENSP00000284548:E5202K	E	+	1	0	OBSCN	226577882	1.000000	0.71417	0.969000	0.41365	0.024000	0.10985	9.587000	0.98229	2.808000	0.96608	0.655000	0.94253	GAG		0.582	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		21	22	0	0	0	1	0	21	22					A	228511259	G	A	228511259	3	1	22	1	0	0	0	0	1	0	0	0	10821	1059	37	1	15822	1	OBSCN	1	228511259	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08	38443736	228511259	20739362	6	2332										
SLC8A1	6546	broad.mit.edu	37	chr2	40342516	40342516	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	ggcccacccagctcacctccGatttctggcctccgccgata	8	19	2	0	rs373502373		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:40342516G>A	ENST00000403092.1	-	11	2832	c.2799C>T	c.(2797-2799)atC>atT	p.I933I	SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.I897I|SLC8A1_ENST00000542024.1_Silent_p.I897I|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.I897I|SLC8A1_ENST00000406785.2_Silent_p.I897I|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.I925I|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.I928I|SLC8A1_ENST00000332839.4_Silent_p.I933I|SLC8A1_ENST00000406391.2_Silent_p.I897I|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.I928I|SLC8A1-AS1_ENST00000599740.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	933					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)	GCTCACCTCCGATTTCTGGCC	0.547																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2689-2691)atC>atT		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						65	64	64					2																	40342516		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40342516G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2799C>T	2.37:g.40342516G>A			Somatic				SLC8A1_ENST00000403092.1_Silent_p.I933I|SLC8A1_ENST00000402441.1_Silent_p.I897I|SLC8A1_ENST00000408028.2_Silent_p.I925I|SLC8A1_ENST00000406391.2_Silent_p.I897I|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.I928I|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.I897I|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.I933I|SLC8A1_ENST00000542756.1_Silent_p.I928I|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.I897I|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA	p.I897I			WXS	Illumina GAIIx	Phase_I	P32418	NAC1_HUMAN			8	2880	-			933					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.2691C>T	CCDS1806.1																																																																																				0.547	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		21	49	0	0	0	1	0	21	49					A	40342516	G	A	40342516	2	1	22	1	0	0	0	0	0	0	0	1	14721	1048	37	1		1	SLC8A1	2	40342516	Silent	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08		40342516	202856857	7	2333										
POLR1A	25885	broad.mit.edu	37	chr2	86302260	86302260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	gctcagggctgtgcggctgcCgtcctcattgatgaccatgg	14	12	2	2			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:86302260C>T	ENST00000263857.6	-	12	1882	c.1504G>A	c.(1504-1506)Ggc>Agc	p.G502S	POLR1A_ENST00000409681.1_Missense_Mutation_p.G502S			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	502					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						GTGCGGCTGCCGTCCTCATTG	0.627																																						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.(1504-1506)Ggc>Agc		polymerase (RNA) I polypeptide A, 194kDa							34	37	36					2																	86302260		2032	4196	6228	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.chr2:86302260C>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.1504G>A	2.37:g.86302260C>T	ENSP00000263857:p.Gly502Ser		Somatic				POLR1A_ENST00000409681.1_Missense_Mutation_p.G502S	p.G502S			WXS	Illumina GAIIx	Phase_I	O95602	RPA1_HUMAN			12	1882	-			502					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.1504G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728773	0.89390	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.72282	-0.64;-0.64	5.01	5.01	0.66863	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.097001	0.64402	D	0.000001	D	0.85159	0.5633	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87125	0.2193	10	0.87932	D	0	-25.0626	18.1227	0.89577	0.0:1.0:0.0:0.0	.	502	O95602	RPA1_HUMAN	S	502	ENSP00000263857:G502S;ENSP00000386300:G502S	ENSP00000263857:G502S	G	-	1	0	POLR1A	86155771	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.245000	0.78237	2.606000	0.88127	0.655000	0.94253	GGC		0.627	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		12	7	0	0	0	1	0	12	7					T	86302260	C	T	86302260	3	4	22	1	0	0	0	0	1	0	0	0	12218	652	23	1	3750	1	POLR1A	2	86302260	Missense_Mutation	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	45959744	86302260	156897113	8	2334										
TMEM131	23505	broad.mit.edu	37	chr2	98429149	98429149	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	aaataaaatattacttgcttCtgtagcactcagtactccaa	4	9	2	0			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:98429149C>G	ENST00000186436.5	-	16	1909	c.1681G>C	c.(1681-1683)Gaa>Caa	p.E561Q		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	561						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						TTACTTGCTTCTGTAGCACTC	0.308																																						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.(1681-1683)Gaa>Caa		transmembrane protein 131							62	62	62					2																	98429149		1803	4063	5866	SO:0001583	missense	23505					integral to membrane		g.chr2:98429149C>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.1681G>C	2.37:g.98429149C>G	ENSP00000186436:p.Glu561Gln		Somatic					p.E561Q	NM_015348.1	NP_056163.1	WXS	Illumina GAIIx	Phase_I	Q92545	TM131_HUMAN			16	1909	-			561						Missense_Mutation	SNP	ENST00000186436.5	37	c.1681G>C	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680192	0.88542	.	.	ENSG00000075568	ENST00000186436	T	0.34072	1.38	5.57	5.57	0.84162	.	0.145182	0.64402	D	0.000009	T	0.50667	0.1629	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	T	0.28650	-1.0037	10	0.33141	T	0.24	-23.438	18.0982	0.89497	0.0:1.0:0.0:0.0	.	561	Q92545	TM131_HUMAN	Q	561	ENSP00000186436:E561Q	ENSP00000186436:E561Q	E	-	1	0	TMEM131	97795581	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.540000	0.73861	2.785000	0.95823	0.591000	0.81541	GAA		0.308	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		10	18	0	0	0	1	0	10	18					G	98429149	C	G	98429149	3	3	22	1	0	0	0	0	1	0	0	0	16059	922	32	2	4074	2	TMEM131	2	98429149	Missense_Mutation	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	12126889	98429149	144770224	9	2335										
CHST10	9486	broad.mit.edu	37	chr2	101011979	101011979	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	agctgttctcaccgcttctgAatttctgcatcactgaagga	8	11	4	2			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:101011979A>G	ENST00000264249.3	-	6	910	c.525T>C	c.(523-525)atT>atC	p.I175I	CHST10_ENST00000409701.1_Silent_p.I175I|CHST10_ENST00000542617.1_Silent_p.I223I	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	175					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						ACCGCTTCTGAATTTCTGCAT	0.507																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(523-525)atT>atC		carbohydrate sulfotransferase 10							80	77	78					2																	101011979		2203	4300	6503	SO:0001819	synonymous_variant	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101011979A>G	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"Sulfotransferases, membrane-bound"	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.525T>C	2.37:g.101011979A>G			Somatic				CHST10_ENST00000542617.1_Silent_p.I223I|CHST10_ENST00000409701.1_Silent_p.I175I	p.I175I	NM_004854.4	NP_004845.1	WXS	Illumina GAIIx	Phase_I	O43529	CHSTA_HUMAN			6	910	-			175					Q53T18	Silent	SNP	ENST00000264249.3	37	c.525T>C	CCDS2047.1																																																																																				0.507	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		18	35	0	0	0	1	0	18	35					G	101011979	A	G	101011979	2	3	22	1	0	0	0	0	0	0	0	1	3400	242	9	4		4	CHST10	2	101011979	Silent	SNP	A	TCGA-N7-A4Y5-01A-12D-A28R-08	2582830	101011979	142187394	10	2336										
MYO7B	4648	broad.mit.edu	37	chr2	128350403	128350403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	gctgtgcctgcggcagctgcGatactcgggcatgatggaga	16	10	0	2			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:128350403G>A	ENST00000409816.2	+	16	2059	c.2027G>A	c.(2026-2028)cGa>cAa	p.R676Q	MYO7B_ENST00000389524.4_Missense_Mutation_p.R676Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.R676Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	676	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)		CGGCAGCTGCGATACTCGGGC	0.667																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2026-2028)cGa>cAa		myosin VIIB							21	30	27					2																	128350403		2058	4186	6244	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128350403G>A		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.2027G>A	2.37:g.128350403G>A	ENSP00000386461:p.Arg676Gln		Somatic				MYO7B_ENST00000409816.2_Missense_Mutation_p.R676Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.R676Q	p.R676Q			WXS	Illumina GAIIx	Phase_I	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	17	2080	+	Colorectal(110;0.1)		676			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.2027G>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	G	34	5.355052	0.95854	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87412	-2.25;-2.25;-2.25	4.93	4.05	0.47172	Myosin head, motor domain (2);	0.064020	0.64402	D	0.000005	D	0.87422	0.6173	M	0.80616	2.505	0.58432	D	0.999997	D	0.54047	0.964	P	0.44897	0.463	D	0.87519	0.2445	10	0.66056	D	0.02	.	9.6805	0.40067	0.1596:0.0:0.8404:0.0	.	676	Q6PIF6	MYO7B_HUMAN	Q	676	ENSP00000374175:R676Q;ENSP00000415090:R676Q;ENSP00000386461:R676Q	ENSP00000374175:R676Q	R	+	2	0	MYO7B	128066873	1.000000	0.71417	0.981000	0.43875	0.987000	0.75469	4.888000	0.63164	1.209000	0.43321	0.655000	0.94253	CGA		0.667	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		5	14	0	0	0	1	0	5	14					A	128350403	G	A	128350403	3	1	22	1	0	0	0	0	1	0	0	0	10092	1058	37	1	2089	1	MYO7B	2	128350403	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08	27338424	128350403	114848970	11	2337										
MGAT5	4249	broad.mit.edu	37	chr2	135012115	135012115	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	gaaagcagctccatgctgcgCgagcagatcctggacctcag	12	13	1	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:135012115C>T	ENST00000409645.1	+	2	393	c.141C>T	c.(139-141)cgC>cgT	p.R47R	MGAT5_ENST00000281923.2_Silent_p.R47R|MGAT5_ENST00000468758.1_3'UTR			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	47					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)		CCATGCTGCGCGAGCAGATCC	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.(139-141)cgC>cgT		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							109	100	103					2																	135012115		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.chr2:135012115C>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.141C>T	2.37:g.135012115C>T			Somatic				MGAT5_ENST00000468758.1_3'UTR|MGAT5_ENST00000281923.2_Silent_p.R47R	p.R47R			WXS	Illumina GAIIx	Phase_I	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	2	393	+			47					D3DP70	Silent	SNP	ENST00000409645.1	37	c.141C>T	CCDS2171.1																																																																																				0.512	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		19	39	0	0	0	1	0	19	39					T	135012115	C	T	135012115	2	4	22	1	0	0	0	0	0	0	0	1	9557	755	27	1		1	MGAT5	2	135012115	Silent	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	6661712	135012115	108187258	12	2338										
ITGA6	3655	broad.mit.edu	37	chr2	173355990	173355990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	tgtgtgaacatcagatgcccGctgcgggggctggacagcaa	15	10	1	2	rs34599583	byFrequency	TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:173355990G>A	ENST00000264106.6	+	23	3140	c.2937G>A	c.(2935-2937)ccG>ccA	p.P979P	ITGA6_ENST00000409080.1_Silent_p.P940P|ITGA6_ENST00000264107.7_Silent_p.P940P|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000375221.2_Silent_p.P979P|ITGA6_ENST00000409532.1_Silent_p.P821P|ITGA6_ENST00000343713.4_Silent_p.P935P			P23229	ITA6_HUMAN	integrin, alpha 6	979					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)			TCAGATGCCCGCTGCGGGGGC	0.483													g|||	42	0.00838658	0.031	0.0014	5008	,	,		19255	0		0	False		,,,				2504	0					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.(2935-2937)ccG>ccA		integrin, alpha 6		A	,	98,4308	79.9+/-118.3	0,98,2105	132	138	136		2820,2820	-10	0.1	2	dbSNP_126	136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ITGA6	NM_000210.2,NM_001079818.1	,	0,99,6404	AA,AG,GG		0.0116,2.2242,0.7612	,	940/1074,940/1092	173355990	99,12907	2203	4300	6503	SO:0001819	synonymous_variant	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173355990G>A		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2937G>A	2.37:g.173355990G>A			Somatic				AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Silent_p.P979P|ITGA6_ENST00000409532.1_Silent_p.P821P|ITGA6_ENST00000409080.1_Silent_p.P940P|ITGA6_ENST00000264107.7_Silent_p.P940P|ITGA6_ENST00000343713.4_Silent_p.P935P	p.P979P			WXS	Illumina GAIIx	Phase_I	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		23	3140	+			979					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37	c.2937G>A																																																																																					0.483	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				44	100	0	0	0	1	0	44	100					A	173355990	G	A	173355990	2	1	22	1	0	0	0	0	0	0	0	1	7889	1074	38	1		1	ITGA6	2	173355990	Silent	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08	38343875	173355990	69843383	13	2339										
MYO1B	4430	broad.mit.edu	37	chr2	192227005	192227005	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	attcaatagataaacttaagCttgagagggatttcagcagg	10	5	2	2			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:192227005C>G	ENST00000392318.3	+	9	920	c.673C>G	c.(673-675)Ctt>Gtt	p.L225V	MYO1B_ENST00000304164.4_Missense_Mutation_p.L225V|MYO1B_ENST00000392316.1_Missense_Mutation_p.L225V|MYO1B_ENST00000339514.4_Missense_Mutation_p.L225V	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	225	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TAAACTTAAGCTTGAGAGGGA	0.383																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(673-675)Ctt>Gtt		myosin IB							110	109	110					2																	192227005		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192227005C>G	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.673C>G	2.37:g.192227005C>G	ENSP00000376132:p.Leu225Val		Somatic				MYO1B_ENST00000339514.4_Missense_Mutation_p.L225V|MYO1B_ENST00000392316.1_Missense_Mutation_p.L225V|MYO1B_ENST00000304164.4_Missense_Mutation_p.L225V	p.L225V	NM_001130158.1	NP_001123630.1	WXS	Illumina GAIIx	Phase_I	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		9	920	+			225			Myosin head-like.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.673C>G	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999316	0.74818	.	.	ENSG00000128641	ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000451437;ENST00000392316	D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53;-3.53	5.8	5.8	0.92144	Myosin head, motor domain (2);	0.000000	0.64402	D	0.000001	D	0.97204	0.9086	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97128	0.9816	10	0.56958	D	0.05	.	18.2511	0.90004	0.0:1.0:0.0:0.0	.	225;225	O43795;O43795-2	MYO1B_HUMAN;.	V	225	ENSP00000341903:L225V;ENSP00000376132:L225V;ENSP00000306382:L225V;ENSP00000388140:L225V;ENSP00000376130:L225V	ENSP00000306382:L225V	L	+	1	0	MYO1B	191935250	1.000000	0.71417	0.983000	0.44433	0.902000	0.53008	2.814000	0.48010	2.744000	0.94065	0.655000	0.94253	CTT		0.383	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		19	25	0	0	0	1	0	19	25					G	192227005	C	G	192227005	3	3	22	1	0	0	0	0	1	0	0	0	10078	797	28	5	703	5	MYO1B	2	192227005	Missense_Mutation	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	18871015	192227005	50972368	14	2340										
ABCA12	26154	broad.mit.edu	37	chr2	215876784	215876784	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	tgtgccagaagccatctgatTgagaatctcttttagtctta	8	8	3	3			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:215876784T>G	ENST00000272895.7	-	16	2251	c.2032A>C	c.(2032-2034)Aat>Cat	p.N678H	ABCA12_ENST00000389661.4_Missense_Mutation_p.N360H	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	678					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GCCATCTGATTGAGAATCTCT	0.403																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(2032-2034)Aat>Cat		ATP-binding cassette, sub-family A (ABC1), member 12							235	225	229					2																	215876784		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215876784T>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2032A>C	2.37:g.215876784T>G	ENSP00000272895:p.Asn678His		Somatic				ABCA12_ENST00000389661.4_Missense_Mutation_p.N360H	p.N678H	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)	16	2251	-		Renal(323;0.127)	678					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.2032A>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.264204	0.39995	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.88509	-2.39;-2.39	5.58	5.58	0.84498	.	0.438330	0.22002	N	0.066000	T	0.80116	0.4564	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.003;0.006	T	0.75039	-0.3458	10	0.38643	T	0.18	.	12.1399	0.53993	0.0:0.0:0.0:1.0	.	678;360	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	H	678;360	ENSP00000272895:N678H;ENSP00000374312:N360H	ENSP00000272895:N678H	N	-	1	0	ABCA12	215585029	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.149000	0.42244	2.121000	0.65114	0.533000	0.62120	AAT		0.403	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		28	79	0	0	0	1	0	28	79					G	215876784	T	G	215876784	3	3	22	1	0	0	0	0	1	0	0	0	30	1812	63	4	5907	4	ABCA12	2	215876784	Missense_Mutation	SNP	T	TCGA-N7-A4Y5-01A-12D-A28R-08	23649779	215876784	27322589	15	2341										
ECEL1	9427	broad.mit.edu	37	chr2	233346218	233346218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	ggcaggtgggggtctcacccGctggttgtagacagtgaagt	17	8	1	2			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:233346218G>A	ENST00000304546.1	-	14	2197	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	ECEL1_ENST00000409941.1_Missense_Mutation_p.R661W	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	663					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGTCTCACCCGCTGGTTGTAG	0.622																																						ENST00000304546.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1987-1989)Cgg>Tgg		endothelin converting enzyme-like 1							45	45	45					2																	233346218		2202	4300	6502	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233346218G>A	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1987C>T	2.37:g.233346218G>A	ENSP00000302051:p.Arg663Trp		Somatic				ECEL1_ENST00000409941.1_Missense_Mutation_p.R661W	p.R663W	NM_004826.2	NP_004817.2	WXS	Illumina GAIIx	Phase_I	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	14	2197	-		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)	663					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1987C>T	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915669	0.73098	.	.	ENSG00000171551	ENST00000411860;ENST00000304546;ENST00000409941	D;D;D	0.90732	-1.71;-2.72;-2.72	5.21	4.32	0.51571	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.052706	0.64402	D	0.000001	D	0.94251	0.8154	M	0.75884	2.315	0.53005	D	0.999965	D;D	0.76494	0.997;0.999	P;D	0.68353	0.766;0.957	D	0.93931	0.7214	10	0.46703	T	0.11	-33.0649	13.9204	0.63928	0.0:0.0:0.5619:0.4381	.	661;663	O95672-2;O95672	.;ECEL1_HUMAN	W	78;663;661	ENSP00000412683:R78W;ENSP00000302051:R663W;ENSP00000386333:R661W	ENSP00000302051:R663W	R	-	1	2	ECEL1	233054462	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.364000	0.52328	1.317000	0.45149	0.558000	0.71614	CGG		0.622	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826		10	15	0	0	0	1	0	10	15					A	233346218	G	A	233346218	3	1	22	1	0	0	0	0	1	0	0	0	4893	1086	38	1	360	1	ECEL1	2	233346218	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08	17469434	233346218	9853155	16	2342										
LRRFIP1	9208	broad.mit.edu	37	chr2	238643971	238643971	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	ggggcagcacctccggctccCgtgctgtaaggcgctttcgg	15	14	0	0			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:238643971C>G	ENST00000392000.4	+	5	366				LRRFIP1_ENST00000308482.9_Missense_Mutation_p.R184G|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000244815.5_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1						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)		CTCCGGCTCCCGTGCTGTAAG	0.652																																						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.(550-552)Cgt>Ggt		leucine rich repeat (in FLII) interacting protein 1							43	43	43					2																	238643971		1568	3582	5150	SO:0001627	intron_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.chr2:238643971C>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.250-13036C>G	2.37:g.238643971C>G			Somatic				LRRFIP1_ENST00000392000.4_Intron|LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron	p.R184G	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)	10	619	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	55					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	c.550C>G	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418385	0.25552	.	.	ENSG00000124831	ENST00000308482;ENST00000391999	T	0.42900	0.96	4.98	0.359	0.16088	.	.	.	.	.	T	0.23492	0.0568	N	0.19112	0.55	0.09310	N	1	B	0.28055	0.199	B	0.25759	0.063	T	0.17531	-1.0366	9	0.52906	T	0.07	.	3.98	0.09490	0.161:0.5419:0.0:0.2971	.	184	E9PGZ2	.	G	184;174	ENSP00000310109:R184G	ENSP00000310109:R184G	R	+	1	0	LRRFIP1	238308710	0.002000	0.14202	0.001000	0.08648	0.367000	0.29736	0.730000	0.26043	-0.174000	0.10743	0.655000	0.94253	CGT		0.652	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		5	19	0	0	0	1	0	5	19					G	238643971	C	G	238643971	1	3	22	0	1	0	0	0	0	0	0	0	9036	652	23	5		5	LRRFIP1	2	238643971	Intron	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	5297753	238643971	4555402	17	2343										
UQCRC1	7384	broad.mit.edu	37	chr3	48646687	48646687	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	cggcacgaactggagcgcctGagcgaaggttgccgtactcc	14	13	0	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr3:48646687G>C	ENST00000203407.5	-	2	534	c.118C>G	c.(118-120)Cag>Gag	p.Q40E	UQCRC1_ENST00000493806.1_5'Flank	NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	40					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)			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)		TGGAGCGCCTGAGCGAAGGTT	0.667																																					NSCLC(81;1112 1427 27031 32409 45529)	ENST00000203407.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(118-120)Cag>Gag		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)						29	29	29					3																	48646687		2199	4297	6496	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48646687G>C	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.118C>G	3.37:g.48646687G>C	ENSP00000203407:p.Gln40Glu		Somatic					p.Q40E	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)	2	534	-			40					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.118C>G	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798342	0.70567	.	.	ENSG00000010256	ENST00000203407	T	0.12147	2.71	5.05	4.17	0.49024	.	0.055973	0.64402	D	0.000001	T	0.13798	0.0334	M	0.72894	2.215	0.49389	D	0.999786	P	0.39576	0.679	B	0.31016	0.123	T	0.08086	-1.0739	10	0.11182	T	0.66	-20.8386	14.5364	0.67963	0.0:0.1473:0.8527:0.0	.	40	P31930	QCR1_HUMAN	E	40	ENSP00000203407:Q40E	ENSP00000203407:Q40E	Q	-	1	0	UQCRC1	48621691	1.000000	0.71417	0.995000	0.50966	0.717000	0.41224	6.834000	0.75339	1.116000	0.41820	-0.302000	0.09304	CAG		0.667	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		35	1	0	0	0	1	0	35	1					C	48646687	G	C	48646687	3	2	22	1	0	0	0	0	1	0	0	0	17034	1299	45	2	1372	2	UQCRC1	3	48646687	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08		48646687	149375743	18	2344										
CELSR3	1951	broad.mit.edu	37	chr3	48681080	48681081	+	Frame_Shift_Del	DEL	CA	CA	-													0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	agccaggaggcactgaccagCagaagcagcaggaaggagct							TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr3:48681080_48681081delCA	ENST00000164024.4	-	28	8475_8476	c.8195_8196delTG	c.(8194-8196)ctgfs	p.L2733fs	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Frame_Shift_Del_p.L2738fs	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2733					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACTGACCAGCAGAAGCAGCAG	0.599																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(8209-8211)cfs		cadherin, EGF LAG seven-pass G-type receptor 3																																				SO:0001589	frameshift_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48681080_48681081delCA	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8195_8196delTG	3.37:g.48681080_48681081delCA	ENSP00000164024:p.Leu2733fs		Somatic				CELSR3_ENST00000164024.4_Frame_Shift_Del_p.L2733fs	p.L2738fs			WXS	Illumina GAIIx	Phase_I	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	29	8490_8491	-			2733					O75092	Frame_Shift_Del	DEL	ENST00000164024.4	37	c.8210_8211delTG	CCDS2775.1																																																																																				0.599	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		2	4						2	4	---	---	---	---	-	48681081	CA	-	48681080	7	5	22	1	0	1	0	1	0	0	0	0	3225	697	25	0	1774	0	CELSR3	3	48681080	Frame_Shift_Del	DEL	CA	TCGA-N7-A4Y5-01A-12D-A28R-08	34393	48681080	149341350	19	2345										
PIK3CA	5290	broad.mit.edu	37	chr3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	tctctctgaaatcactgagcAggagaaagattttctatgga	9	7	4	4	rs397517201		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		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.Q546R(30)|p.Q546P(18)|p.Q546L(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	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)	ATCACTGAGCAGGAGAAAGAT	0.363		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"		53	Substitution - Missense(53)	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)	endometrium(18)|breast(17)|large_intestine(10)|central_nervous_system(3)|prostate(2)|upper_aerodigestive_tract(1)|stomach(1)|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.(1636-1638)cAg>cGg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61	61	61					3																	178936095		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.chr3:178936095A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1637A>G	3.37:g.178936095A>G	ENSP00000263967:p.Gln546Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.Q546R	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	1794	+	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.1637A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332178	0.81801	.	.	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	0.75657	0.3879	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	T	0.76782	-0.2832	10	0.52906	T	0.07	-14.2064	16.1026	0.81194	1.0:0.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	R	546	ENSP00000263967:Q546R	ENSP00000263967:Q546R	Q	+	2	0	PIK3CA	180418789	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	CAG		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			32	18	0	0	0	1	0	32	18					G	178936095	A	G	178936095	3	3	22	1	0	0	0	0	1	0	0	0	11922	188	7	4	1671	4	PIK3CA	3	178936095	Missense_Mutation	SNP	A	TCGA-N7-A4Y5-01A-12D-A28R-08	130255015	178936095	19086335	20	2346										
ATP11B	23200	broad.mit.edu	37	chr3	182597349	182597349	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	gaccagcctatctcttgcacTcagggagcatgaaaaactat	8	11	2	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr3:182597349T>G	ENST00000323116.5	+	20	2578	c.2318T>G	c.(2317-2319)cTc>cGc	p.L773R		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	773					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)			TCTCTTGCACTCAGGGAGCAT	0.378																																						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.(2317-2319)cTc>cGc		ATPase, class VI, type 11B							98	98	98					3																	182597349		2203	4300	6503	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.chr3:182597349T>G	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.2318T>G	3.37:g.182597349T>G	ENSP00000321195:p.Leu773Arg		Somatic					p.L773R	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)		20	2578	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		773					Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.2318T>G	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.5|22.5	4.298979|4.298979	0.81025|0.81025	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000323116;ENST00000482070|ENST00000498086	D;T|.	0.93076|.	-3.16;2.53|.	4.78|4.78	4.78|4.78	0.61160|0.61160	HAD-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87430|0.87430	0.6175|0.6175	H|H	0.97131|0.97131	3.945|3.945	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.998|.	D|D	0.91623|0.91623	0.5312|0.5312	10|5	0.87932|.	D|.	0|.	.|.	14.466|14.466	0.67485|0.67485	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	347;773|.	B3KSJ2;Q9Y2G3|.	.;AT11B_HUMAN|.	R|A	773;8|574	ENSP00000321195:L773R;ENSP00000417124:L8R|.	ENSP00000321195:L773R|.	L|S	+|+	2|1	0|0	ATP11B|ATP11B	184080043|184080043	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.473000|7.473000	0.81007|0.81007	2.002000|2.002000	0.58637|0.58637	0.477000|0.477000	0.44152|0.44152	CTC|TCA		0.378	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		45	24	0	0	0	1	0	45	24					G	182597349	T	G	182597349	3	3	22	1	0	0	0	0	1	0	0	0	1120	1551	54	4	2396	4	ATP11B	3	182597349	Missense_Mutation	SNP	T	TCGA-N7-A4Y5-01A-12D-A28R-08	3661254	182597349	15425081	21	2347										
SH3TC1	54436	broad.mit.edu	37	chr4	8229382	8229382	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	cctgcagctggcgctgcggcGggcggtgggtggccagagcc	20	13	0	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr4:8229382G>C	ENST00000245105.3	+	12	2028	c.1961G>C	c.(1960-1962)cGg>cCg	p.R654P	SH3TC1_ENST00000539824.1_Missense_Mutation_p.R578P	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	654										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCGCTGCGGCGGGCGGTGGGT	0.726																																					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.(1732-1734)cGg>cCg		SH3 domain and tetratricopeptide repeats 1							10	12	11					4																	8229382		1946	3823	5769	SO:0001583	missense	54436						binding	g.chr4:8229382G>C	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1961G>C	4.37:g.8229382G>C	ENSP00000245105:p.Arg654Pro		Somatic				SH3TC1_ENST00000245105.3_Missense_Mutation_p.R654P	p.R578P			WXS	Illumina GAIIx	Phase_I	Q8TE82	S3TC1_HUMAN			12	2107	+			654					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.1733G>C	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415951	0.25552	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.76316	-0.45;-1.01	4.16	2.11	0.27256	Tetratricopeptide-like helical (1);	0.539872	0.18409	N	0.142116	T	0.76758	0.4032	L	0.50333	1.59	0.23563	N	0.997408	P	0.49635	0.926	P	0.53912	0.737	T	0.65475	-0.6159	10	0.54805	T	0.06	-6.9886	5.6646	0.17689	0.0861:0.1268:0.6404:0.1466	.	654	Q8TE82	S3TC1_HUMAN	P	392;654;578;483	ENSP00000245105:R654P;ENSP00000441045:R578P	ENSP00000245105:R654P	R	+	2	0	SH3TC1	8280282	0.983000	0.35010	0.109000	0.21407	0.050000	0.14768	1.793000	0.38764	0.751000	0.32900	0.556000	0.70494	CGG		0.726	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		19	15	0	0	0	1	0	19	15					C	8229382	G	C	8229382	3	2	22	1	0	0	0	0	1	0	0	0	14276	1116	39	5	2003	5	SH3TC1	4	8229382	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08		8229382	182924894	22	2348										
PRSS12	8492	broad.mit.edu	37	chr4	119237434	119237434	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	tctgtaatatacctccaagcGaccctcatggctgcctttcc	6	15	2	0	rs139059047		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr4:119237434G>C	ENST00000296498.3	-	6	1477	c.1195C>G	c.(1195-1197)Cgc>Ggc	p.R399G		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	399	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				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						ACCTCCAAGCGACCCTCATGG	0.458																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1195-1197)Cgc>Ggc		protease, serine, 12 (neurotrypsin, motopsin)							109	98	101					4																	119237434		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119237434G>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.1195C>G	4.37:g.119237434G>C	ENSP00000296498:p.Arg399Gly		Somatic					p.R399G	NM_003619.3	NP_003610.2	WXS	Illumina GAIIx	Phase_I	P56730	NETR_HUMAN			6	1477	-			399			SRCR 3.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.1195C>G	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740042	0.89573	.	.	ENSG00000164099	ENST00000296498	T	0.36340	1.26	6.16	6.16	0.99307	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.093383	0.64402	D	0.000001	T	0.76941	0.4058	H	0.97806	4.08	0.54753	D	0.999989	D	0.89917	1.0	D	0.78314	0.991	D	0.84407	0.0563	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	399	P56730	NETR_HUMAN	G	399	ENSP00000296498:R399G	ENSP00000296498:R399G	R	-	1	0	PRSS12	119456882	1.000000	0.71417	0.973000	0.42090	0.944000	0.59088	5.222000	0.65277	2.937000	0.99478	0.650000	0.86243	CGC		0.458	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			14	23	0	0	0	1	0	14	23					C	119237434	G	C	119237434	3	2	22	1	0	0	0	0	1	0	0	0	12627	1058	37	2	1464	2	PRSS12	4	119237434	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08	111008052	119237434	71916842	23	2349										
SPATA5	166378	broad.mit.edu	37	chr4	123855466	123855466	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	cagctaagccagttagatctGgaggatacccagatcccaac	9	12	1	2			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr4:123855466G>T	ENST00000274008.4	+	5	789	c.720G>T	c.(718-720)ctG>ctT	p.L240L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	240					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						AGTTAGATCTGGAGGATACCC	0.428																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(718-720)ctG>ctT		spermatogenesis associated 5							91	86	88					4																	123855466		2203	4300	6503	SO:0001819	synonymous_variant	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123855466G>T	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.720G>T	4.37:g.123855466G>T			Somatic				SPATA5_ENST00000422835.2_3'UTR	p.L240L	NM_145207.2	NP_660208.2	WXS	Illumina GAIIx	Phase_I	Q8NB90	SPAT5_HUMAN			5	789	+			240					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	ENST00000274008.4	37	c.720G>T	CCDS3730.1																																																																																				0.428	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		23	29	1	0	1.50039e-11	1	1.60507e-11	23	29					T	123855466	G	T	123855466	2	4	22	1	0	0	0	0	0	0	0	1	15026	1335	47	5		5	SPATA5	4	123855466	Silent	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08	4618032	123855466	67298810	24	2350										
ODZ3	55714	broad.mit.edu	37	chr4	183600828	183600828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	cctccccccagtatgacttcGtggagctcctggatggcagc	11	15	0	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr4:183600828G>A	ENST00000511685.1	+	8	1459	c.1336G>A	c.(1336-1338)Gtg>Atg	p.V446M	TENM3_ENST00000406950.2_Missense_Mutation_p.V446M			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	446					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)										GTATGACTTCGTGGAGCTCCT	0.532																																						ENST00000511685.1																			0											c.(1336-1338)Gtg>Atg		teneurin transmembrane protein 3							53	55	54					4																	183600828		1907	4110	6017	SO:0001583	missense	55714							g.chr4:183600828G>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.1336G>A	4.37:g.183600828G>A	ENSP00000424226:p.Val446Met		Somatic				TENM3_ENST00000406950.2_Missense_Mutation_p.V446M	p.V446M			WXS	Illumina GAIIx	Phase_I					8	1459	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.1336G>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555431	0.45487	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.34072	1.38;1.38	5.52	5.52	0.82312	.	.	.	.	.	T	0.41488	0.1161	L	0.42529	1.33	0.58432	D	0.999994	D	0.76494	0.999	P	0.49799	0.622	T	0.03863	-1.0997	9	0.20046	T	0.44	.	19.6296	0.95694	0.0:0.0:1.0:0.0	.	446	Q9P273	TEN3_HUMAN	M	446	ENSP00000424226:V446M;ENSP00000385276:V446M	ENSP00000385276:V446M	V	+	1	0	ODZ3	183837822	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.860000	0.86993	2.873000	0.98535	0.563000	0.77884	GTG		0.532	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			12	27	0	0	0	1	0	12	27					A	183600828	G	A	183600828	3	1	22	1	0	0	0	0	1	0	0	0	10845	1145	40	1	1362	1	ODZ3	4	183600828	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08	59745362	183600828	7553448	25	2351										
NPR3	4883	broad.mit.edu	37	chr5	32712485	32712485	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	caccactggagccgcgctgcActggtctacagcgacgacaa	11	15	1	0	rs536801135		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr5:32712485A>C	ENST00000265074.8	+	1	946	c.603A>C	c.(601-603)gcA>gcC	p.A201A	NPR3_ENST00000415167.2_Silent_p.A201A|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	201					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)	GCCGCGCTGCACTGGTCTACA	0.632																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(601-603)gcA>gcC		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						44	51	49					5																	32712485		2093	4207	6300	SO:0001819	synonymous_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32712485A>C		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.603A>C	5.37:g.32712485A>C			Somatic				NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Silent_p.A201A|NPR3_ENST00000415685.2_Intron	p.A201A	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	WXS	Illumina GAIIx	Phase_I	P17342	ANPRC_HUMAN			1	946	+			201					A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	c.603A>C	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	A	0.949	-0.706984	0.03230	.	.	ENSG00000113389	ENST00000507141	.	.	.	4.89	-0.49	0.12049	.	.	.	.	.	T	0.44414	0.1292	.	.	.	0.40880	D	0.983988	.	.	.	.	.	.	T	0.29701	-1.0003	4	.	.	.	-7.2564	4.7272	0.12946	0.153:0.2169:0.5329:0.0973	.	.	.	.	P	17	.	.	T	+	1	0	NPR3	32748242	0.043000	0.20138	0.228000	0.23943	0.243000	0.25628	0.159000	0.16442	0.014000	0.14944	-1.066000	0.02275	ACT		0.632	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		26	133	0	0	0	1	0	26	133					C	32712485	A	C	32712485	2	2	22	1	0	0	0	0	0	0	0	1	10605	146	6	4		4	NPR3	5	32712485	Silent	SNP	A	TCGA-N7-A4Y5-01A-12D-A28R-08		32712485	148202775	26	2352										
FGF10	2255	broad.mit.edu	37	chr5	44305205	44305205	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	aatgccacatacatttgcctCccattatgctgccagttaaa	5	12	0	0			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr5:44305205C>A	ENST00000264664.4	-	3	633	c.519G>T	c.(517-519)ggG>ggT	p.G173G		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	173					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)					ACATTTGCCTCCCATTATGCT	0.413																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(517-519)ggG>ggT		fibroblast growth factor 10							278	240	253					5																	44305205		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:44305205C>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.519G>T	5.37:g.44305205C>A			Somatic					p.G173G	NM_004465.1	NP_004456.1	WXS	Illumina GAIIx	Phase_I	O15520	FGF10_HUMAN			3	633	-	Lung NSC(6;1.12e-06)		173					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Silent	SNP	ENST00000264664.4	37	c.519G>T	CCDS3950.1																																																																																				0.413	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		30	129	1	0	4.40665e-25	1	4.76955e-25	30	129					A	44305205	C	A	44305205	2	1	22	1	0	0	0	0	0	0	0	1	5847	842	30	2		2	FGF10	5	44305205	Silent	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	11592720	44305205	136610055	27	2353										
PDE4D	5144	broad.mit.edu	37	chr5	58289244	58289244	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	tgacacttgatttccagaccGactcatttcagagagatggg	10	9	2	5			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr5:58289244G>C	ENST00000340635.6	-	7	1145	c.970C>G	c.(970-972)Cgg>Ggg	p.R324G	PDE4D_ENST00000358923.6_Missense_Mutation_p.R22G|PDE4D_ENST00000546160.1_Missense_Mutation_p.R263G|PDE4D_ENST00000405755.2_Missense_Mutation_p.R202G|PDE4D_ENST00000317118.8_Missense_Mutation_p.R33G|PDE4D_ENST00000507116.1_Missense_Mutation_p.R260G|PDE4D_ENST00000503258.1_Missense_Mutation_p.R194G|PDE4D_ENST00000502484.2_Missense_Mutation_p.R263G|PDE4D_ENST00000360047.5_Missense_Mutation_p.R188G	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	324					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TTTCCAGACCGACTCATTTCA	0.318																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(970-972)Cgg>Ggg		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						82	80	81					5																	58289244		1813	4078	5891	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58289244G>C		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.970C>G	5.37:g.58289244G>C	ENSP00000345502:p.Arg324Gly		Somatic				PDE4D_ENST00000503258.1_Missense_Mutation_p.R194G|PDE4D_ENST00000507116.1_Missense_Mutation_p.R260G|PDE4D_ENST00000360047.5_Missense_Mutation_p.R188G|PDE4D_ENST00000317118.8_Missense_Mutation_p.R33G|PDE4D_ENST00000502484.2_Missense_Mutation_p.R263G|PDE4D_ENST00000546160.1_Missense_Mutation_p.R263G|PDE4D_ENST00000405755.2_Missense_Mutation_p.R202G|PDE4D_ENST00000358923.6_Missense_Mutation_p.R22G	p.R324G	NM_001104631.1	NP_001098101.1	WXS	Illumina GAIIx	Phase_I	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	7	1145	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	324					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.970C>G	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206099	0.79127	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	T;T;T;T;T;T;T;T;T;T	0.69175	-0.37;-0.35;-0.37;-0.28;-0.3;-0.35;-0.35;-0.37;-0.37;-0.38	5.06	4.18	0.49190	.	0.000000	0.85682	D	0.000000	D	0.84678	0.5525	M	0.92412	3.305	0.58432	D	0.99999	D;D;D;D;D;D;P;P	0.67145	0.992;0.987;0.992;0.996;0.996;0.992;0.862;0.928	D;D;D;D;D;D;P;P	0.72982	0.979;0.953;0.979;0.969;0.969;0.979;0.607;0.702	D	0.88287	0.2940	10	0.72032	D	0.01	.	13.6911	0.62547	0.0:0.0:0.7057:0.2943	.	263;324;260;187;202;194;99;33	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	G	324;193;188;260;22;33;194;202;263;263;22	ENSP00000345502:R324G;ENSP00000353152:R188G;ENSP00000424852:R260G;ENSP00000351800:R22G;ENSP00000321739:R33G;ENSP00000425605:R194G;ENSP00000384806:R202G;ENSP00000423094:R263G;ENSP00000442734:R263G;ENSP00000421013:R22G	ENSP00000321739:R33G	R	-	1	2	PDE4D	58325001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.455000	0.60075	1.341000	0.45600	0.557000	0.71058	CGG		0.318	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			10	16	0	0	0	1	0	10	16					C	58289244	G	C	58289244	3	2	22	1	0	0	0	0	1	0	0	0	11651	1057	37	2	1495	2	PDE4D	5	58289244	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08	13984039	58289244	122626016	28	2354										
FBN2	2201	broad.mit.edu	37	chr5	127670459	127670459	+	Frame_Shift_Del	DEL	G	G	-													0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	tgagtaacccagctgacagtGgcaaatgaaggatccctttg							TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr5:127670459delG	ENST00000508053.1	-	37	5025	c.4051delC	c.(4051-4053)cacfs	p.H1351fs	FBN2_ENST00000507835.1_Frame_Shift_Del_p.H201fs|FBN2_ENST00000262464.4_Frame_Shift_Del_p.H1351fs|FBN2_ENST00000508989.1_Frame_Shift_Del_p.H1318fs			P35556	FBN2_HUMAN	fibrillin 2	1351	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)		AGCTGACAGTGGCAAATGAAG	0.398																																						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.(4051-4053)acfs		fibrillin 2							153	135	141					5																	127670459		2203	4300	6503	SO:0001589	frameshift_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.chr5:127670459delG	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.4051delC	5.37:g.127670459delG	ENSP00000424571:p.His1351fs		Somatic				FBN2_ENST00000507835.1_Frame_Shift_Del_p.H201fs|FBN2_ENST00000508989.1_Frame_Shift_Del_p.H1318fs|FBN2_ENST00000262464.4_Frame_Shift_Del_p.H1351fs	p.H1351fs			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	5025	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1351			EGF-like 21; calcium-binding.		B4DU01|Q59ES6	Frame_Shift_Del	DEL	ENST00000508053.1	37	c.4051delC	CCDS34222.1																																																																																				0.398	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		26	32						26	32	---	---	---	---	-	127670459	G	-	127670459	7	5	22	1	0	1	0	1	0	0	0	0	5711	1348	47	0	4827	0	FBN2	5	127670459	Frame_Shift_Del	DEL	G	TCGA-N7-A4Y5-01A-12D-A28R-08	69381215	127670459	53244801	29	2355										
PCDHA2	56146	broad.mit.edu	37	chr5	140174613	140174613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	tgctctcgcttctgctcctcGcagcctgggaggtggggagc	15	13	2	0			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr5:140174613G>A	ENST00000526136.1	+	1	64	c.64G>A	c.(64-66)Gca>Aca	p.A22T	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A22T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A22T	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	22					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)			TCTGCTCCTCGCAGCCTGGGA	0.622																																						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.(64-66)Gca>Aca									31	38	36					5																	140174613		2202	4300	6502	SO:0001583	missense	0							g.chr5:140174613G>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.64G>A	5.37:g.140174613G>A	ENSP00000431748:p.Ala22Thr		Somatic				PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A22T|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A22T	p.A22T	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	64	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.64G>A	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	0.636	-0.815280	0.02776	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52057	0.75;0.68;0.72	3.8	0.762	0.18454	Cadherin (1);	0.447550	0.16181	N	0.225838	T	0.23688	0.0573	N	0.21142	0.635	0.09310	N	1	B;B;B	0.20887	0.049;0.013;0.022	B;B;B	0.19148	0.02;0.024;0.02	T	0.17715	-1.0360	10	0.08381	T	0.77	.	3.5441	0.07821	0.2715:0.0:0.4233:0.3052	.	22;22;22	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	22	ENSP00000430584:A22T;ENSP00000367372:A22T;ENSP00000431748:A22T	ENSP00000367372:A22T	A	+	1	0	PCDHA2	140154797	0.000000	0.05858	0.133000	0.22050	0.005000	0.04900	-1.503000	0.02277	0.320000	0.23234	-1.324000	0.01287	GCA		0.622	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		30	30	0	0	0	1	0	30	30					A	140174613	G	A	140174613	3	1	22	1	0	0	0	0	1	0	0	0	11533	1087	38	1	66	1	PCDHA2	5	140174613	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08	12504154	140174613	40740647	30	2356										
PCDHB6	56130	broad.mit.edu	37	chr5	140531787	140531787	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	ggacaatggcgagcctccgcGctcggccaccgccacgctgc	13	18	0	0			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr5:140531787G>C	ENST00000231136.1	+	1	1949	c.1949G>C	c.(1948-1950)cGc>cCc	p.R650P	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R514P	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	650	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCCTCCGCGCTCGGCCACC	0.701																																						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.(1948-1950)cGc>cCc									20	23	22					5																	140531787		2040	4024	6064	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531787G>C	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.1949G>C	5.37:g.140531787G>C	ENSP00000231136:p.Arg650Pro		Somatic				PCDHB6_ENST00000543635.1_Missense_Mutation_p.R514P	p.R650P	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	1949	+			650			Cadherin 6.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1949G>C	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	8.617	0.890522	0.17613	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.54071	0.59;0.59	4.51	0.322	0.15888	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.63698	0.2533	M	0.68952	2.095	0.30215	N	0.79735	P	0.50943	0.94	P	0.61477	0.889	T	0.61143	-0.7122	9	0.59425	D	0.04	.	8.7426	0.34567	0.1173:0.0:0.4959:0.3869	.	650	Q9Y5E3	PCDB6_HUMAN	P	514;650	ENSP00000438466:R514P;ENSP00000231136:R650P	ENSP00000231136:R650P	R	+	2	0	PCDHB6	140511971	0.001000	0.12720	0.882000	0.34594	0.013000	0.08279	0.708000	0.25719	-0.131000	0.11578	-0.410000	0.06199	CGC		0.701	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		43	40	0	0	0	1	0	43	40					C	140531787	G	C	140531787	3	2	22	1	0	0	0	0	1	0	0	0	11555	1087	38	5	1951	5	PCDHB6	5	140531787	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08	357174	140531787	40383473	31	2357										
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100294	27100295	+	Frame_Shift_Ins	INS	-	-	T													0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	gttgtaatgcgccaggcgggINSaagcctcacctgcgatgcgc							TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr6:27100294_27100295insT	ENST00000607124.1	-	1	234_235	c.235_236insA	c.(235-237)tccfs	p.S79fs	HIST1H2BJ_ENST00000339812.2_Frame_Shift_Ins_p.S79fs|HIST1H2BJ_ENST00000541790.1_Frame_Shift_Ins_p.S79fs|HIST1H2AG_ENST00000359193.2_5'Flank			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	79					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)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CGCCAGGCGGGAAGCCTCACCT	0.604																																						ENST00000607124.1																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						c.(235-237)ccgfs		histone cluster 1, H2bj																																				SO:0001589	frameshift_variant	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100294_27100295insT	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"Histones / Replication-dependent"	4761	protein-coding gene	gene with protein product		615044	"H2B histone family, member R", "histone 1, H2bj"	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.235_236insA	6.37:g.27100294_27100295insT	ENSP00000476136:p.Ser79fs		Somatic				HIST1H2BJ_ENST00000541790.1_Frame_Shift_Ins_p.P79fs|HIST1H2BJ_ENST00000339812.2_Frame_Shift_Ins_p.P79fs	p.P79fs			WXS	Illumina GAIIx	Phase_I	P06899	H2B1J_HUMAN			1	234_235	-			79					B2R4J4|O60816	Frame_Shift_Ins	INS	ENST00000607124.1	37	c.235_236insA	CCDS4618.1																																																																																				0.604	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		118	76						118	76	---	---	---	---	T	27100295	-	T	27100294	7	5	22	1	0	1	1	0	0	0	0	0	7158	1174	41	0	148	0	HIST1H2BJ	6	27100294	Frame_Shift_Ins	INS	-	TCGA-N7-A4Y5-01A-12D-A28R-08		27100294	144014773	32	2358										
OPRM1	4988	broad.mit.edu	37	chr6	154360937	154360937	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	gtgtgcgtggtggggctcttCggaaacttcctggtcatgta	15	8	2	0			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr6:154360937C>T	ENST00000330432.7	+	1	495	c.258C>T	c.(256-258)ttC>ttT	p.F86F	OPRM1_ENST00000435918.2_Silent_p.F86F|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000452687.2_Silent_p.F86F|OPRM1_ENST00000419506.2_Silent_p.F86F|OPRM1_ENST00000414028.2_Silent_p.F86F|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000434900.2_Silent_p.F179F|OPRM1_ENST00000360422.4_Silent_p.F86F|OPRM1_ENST00000524163.1_Silent_p.F86F|OPRM1_ENST00000428397.2_Silent_p.F86F|OPRM1_ENST00000229768.5_Silent_p.F86F|OPRM1_ENST00000337049.4_Silent_p.F86F	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	86					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGGGGCTCTTCGGAAACTTCC	0.592																																						ENST00000414028.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(256-258)ttC>ttT		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						77	79	78					6																	154360937		2001	4173	6174	SO:0001819	synonymous_variant	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154360937C>T	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.258C>T	6.37:g.154360937C>T			Somatic				OPRM1_ENST00000337049.4_Silent_p.F86F|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000419506.2_Silent_p.F86F|OPRM1_ENST00000435918.2_Silent_p.F86F|OPRM1_ENST00000360422.4_Silent_p.F86F|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000330432.7_Silent_p.F86F|OPRM1_ENST00000434900.2_Silent_p.F179F|OPRM1_ENST00000524163.1_Silent_p.F86F|OPRM1_ENST00000452687.2_Silent_p.F86F|OPRM1_ENST00000428397.2_Silent_p.F86F|OPRM1_ENST00000229768.5_Silent_p.F86F|OPRM1_ENST00000518759.1_Intron	p.F86F	NM_001145284.2	NP_001138756.1	WXS	Illumina GAIIx	Phase_I	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	1	308	+		Ovarian(120;0.196)	86					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Silent	SNP	ENST00000330432.7	37	c.258C>T	CCDS55070.1																																																																																				0.592	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		21	52	0	0	0	1	0	21	52					T	154360937	C	T	154360937	2	4	22	1	0	0	0	0	0	0	0	1	10896	883	31	1		1	OPRM1	6	154360937	Silent	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	127260643	154360937	16754130	33	2359										
DNAH11	8701	broad.mit.edu	37	chr7	21789392	21789392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	ttctagatgagagcttcctcGtgctgattaatgacttgctg	10	8	1	4	rs72657369		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr7:21789392G>A	ENST00000409508.3	+	53	8801	c.8770G>A	c.(8770-8772)Gtg>Atg	p.V2924M	DNAH11_ENST00000328843.6_Missense_Mutation_p.V2931M	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2931	AAA 4. {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						GAGCTTCCTCGTGCTGATTAA	0.428									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.(8791-8793)Gtg>Atg		dynein, axonemal, heavy chain 11		G	MET/VAL	0,3982		0,0,1991	112	108	110		8792	3.9	1	7	dbSNP_130	110	2,8390		0,2,4194	no	missense	DNAH11	NM_003777.3	21	0,2,6185	AA,AG,GG		0.0238,0.0,0.0162	probably-damaging	2931/4524	21789392	2,12372	1991	4196	6187	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.chr7:21789392G>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.8770G>A	7.37:g.21789392G>A	ENSP00000475939:p.Val2924Met		Somatic				DNAH11_ENST00000409508.3_Missense_Mutation_p.V2924M	p.V2931M			WXS	Illumina GAIIx	Phase_I	Q96DT5	DYH11_HUMAN			54	8822	+			2931			AAA 4 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.8791G>A		.	.	.	.	.	.	.	.	.	.	G	14.29	2.490627	0.44249	0.0	2.38E-4	ENSG00000105877	ENST00000328843	T	0.39997	1.05	5.73	3.94	0.45596	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.110082	0.64402	N	0.000009	T	0.39545	0.1082	.	.	.	0.46044	D	0.99883	B	0.32160	0.358	B	0.32393	0.145	T	0.09930	-1.0652	9	0.44086	T	0.13	.	16.7889	0.85582	0.0893:0.0:0.9107:0.0	.	2931	Q96DT5	DYH11_HUMAN	M	2931	ENSP00000330671:V2931M	ENSP00000330671:V2931M	V	+	1	0	DNAH11	21755917	1.000000	0.71417	0.962000	0.40283	0.598000	0.36846	5.649000	0.67936	0.378000	0.24764	-1.736000	0.00690	GTG		0.428	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		21	17	0	0	0	1	0	21	17					A	21789392	G	A	21789392	3	1	22	1	0	0	0	0	1	0	0	0	4601	1145	40	1	9002	1	DNAH11	7	21789392	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08		21789392	137349271	34	2360										
ZNF107	51427	broad.mit.edu	37	chr7	64167232	64167232	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	ggcataagataattcatactGaagagaaacccaacaaatgt	7	7	1	3			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr7:64167232G>A	ENST00000395391.1	+	4	1925	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	ZNF107_ENST00000423627.1_Missense_Mutation_p.E184K|ZNF107_ENST00000344930.3_Missense_Mutation_p.E184K			Q9UII5	ZN107_HUMAN	zinc finger protein 107	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AATTCATACTGAAGAGAAACC	0.368																																						ENST00000395391.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(550-552)Gaa>Aaa		zinc finger protein 107							34	36	35					7																	64167232		2201	4298	6499	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64167232G>A	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.550G>A	7.37:g.64167232G>A	ENSP00000378789:p.Glu184Lys		Somatic				ZNF107_ENST00000344930.3_Missense_Mutation_p.E184K|ZNF107_ENST00000423627.1_Missense_Mutation_p.E184K	p.E184K			WXS	Illumina GAIIx	Phase_I	Q9UII5	ZN107_HUMAN			4	1925	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	184						Missense_Mutation	SNP	ENST00000395391.1	37	c.550G>A	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	14.93	2.681445	0.47991	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.15834	2.39;2.39;2.39	1.38	1.38	0.22167	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10680	0.0261	L	0.37850	1.14	0.28096	N	0.931608	P	0.36048	0.534	B	0.26517	0.07	T	0.17745	-1.0359	8	.	.	.	.	8.2014	0.31428	0.0:0.0:1.0:0.0	.	184	Q9UII5	ZN107_HUMAN	K	184	ENSP00000343443:E184K;ENSP00000400037:E184K;ENSP00000378789:E184K	.	E	+	1	0	ZNF107	63804667	0.992000	0.36948	0.018000	0.16275	0.081000	0.17604	2.937000	0.48979	0.712000	0.32039	0.448000	0.29417	GAA		0.368	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		11	21	0	0	0	1	0	11	21					A	64167232	G	A	64167232	3	1	22	1	0	0	0	0	1	0	0	0	17730	1291	45	3	556	3	ZNF107	7	64167232	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08	42377840	64167232	94971431	35	2361										
STEAP4	79689	broad.mit.edu	37	chr7	87912423	87912423	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	atccattggagtaagtccaaGattacgaacaatatccatca	6	9	1	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr7:87912423G>A	ENST00000380079.4	-	3	618	c.517C>T	c.(517-519)Ctt>Ttt	p.L173F	AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.L173F|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	173					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GTAAGTCCAAGATTACGAACA	0.388																																						ENST00000380079.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15						c.(517-519)Ctt>Ttt		STEAP family member 4							82	79	80					7																	87912423		1907	4132	6039	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87912423G>A	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"tumor necrosis factor, alpha-induced protein 9"	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.517C>T	7.37:g.87912423G>A	ENSP00000369419:p.Leu173Phe		Somatic				AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.L173F|AC003991.3_ENST00000434733.1_RNA	p.L173F	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	WXS	Illumina GAIIx	Phase_I	Q687X5	STEA4_HUMAN			3	618	-	Esophageal squamous(14;0.00802)		173					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.517C>T	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102784	0.56183	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	T;T	0.19669	2.13;2.13	5.98	5.98	0.97165	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	M	0.67953	2.075	0.52099	D	0.999942	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.13953	-1.0490	10	0.46703	T	0.11	-12.0725	15.2004	0.73132	0.0:0.0:0.8592:0.1408	.	173;173	C9JS50;Q687X5	.;STEA4_HUMAN	F	173	ENSP00000369419:L173F;ENSP00000394399:L173F	ENSP00000369419:L173F	L	-	1	0	STEAP4	87750359	1.000000	0.71417	0.967000	0.41034	0.371000	0.29859	3.297000	0.51810	2.838000	0.97847	0.591000	0.81541	CTT		0.388	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		18	20	0	0	0	1	0	18	20					A	87912423	G	A	87912423	3	1	22	1	0	0	0	0	1	0	0	0	15295	942	33	3	874	3	STEAP4	7	87912423	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08	23745191	87912423	71226240	36	2362										
EPHB6	2051	broad.mit.edu	37	chr7	142562260	142562260	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	ttctcctacacctgccctgcCgtgctccgatcctttgcttc	6	18	1	0	rs148221019	byFrequency	TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr7:142562260C>A	ENST00000392957.2	+	7	1489	c.702C>A	c.(700-702)gcC>gcA	p.A234A	EPHB6_ENST00000442129.1_Silent_p.A234A|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	234	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTGCCCTGCCGTGCTCCGAT	0.667																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(700-702)gcC>gcA		EPH receptor B6							65	74	71					7																	142562260		2199	4294	6493	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142562260C>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.702C>A	7.37:g.142562260C>A			Somatic				EPHB6_ENST00000442129.1_Silent_p.A234A|EPHB6_ENST00000411471.2_Intron	p.A234A	NM_004445.3	NP_004436.2	WXS	Illumina GAIIx	Phase_I	O15197	EPHB6_HUMAN			7	1489	+	Melanoma(164;0.059)		234			Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.702C>A	CCDS5873.2																																																																																				0.667	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			41	78	1	0	9.73076e-26	1	1.06575e-25	41	78					A	142562260	C	A	142562260	2	1	22	1	0	0	0	0	0	0	0	1	5180	639	23	5		5	EPHB6	7	142562260	Silent	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	54649837	142562260	16576403	37	2363										
XKR4	114786	broad.mit.edu	37	chr8	56270402	56270402	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	gctggtcctgcagctctgcaTtatcgtacagactcatagct	9	12	2	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr8:56270402T>G	ENST00000327381.6	+	2	1071	c.971T>G	c.(970-972)aTt>aGt	p.I324S		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	324						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGCTCTGCATTATCGTACAG	0.453																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(970-972)aTt>aGt		XK, Kell blood group complex subunit-related family, member 4							120	104	110					8																	56270402		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56270402T>G	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.971T>G	8.37:g.56270402T>G	ENSP00000328326:p.Ile324Ser		Somatic					p.I324S	NM_052898.1	NP_443130.1	WXS	Illumina GAIIx	Phase_I	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		2	1071	+			324					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.971T>G	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890310	0.72524	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.74106	-0.81	5.96	5.96	0.96718	.	0.048098	0.85682	D	0.000000	D	0.85712	0.5760	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86965	0.2094	10	0.72032	D	0.01	-4.2836	16.4447	0.83919	0.0:0.0:0.0:1.0	.	324	Q5GH76	XKR4_HUMAN	S	324	ENSP00000328326:I324S	ENSP00000328326:I324S	I	+	2	0	XKR4	56432956	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	8.040000	0.89188	2.284000	0.76573	0.528000	0.53228	ATT		0.453	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		12	76	0	0	0	1	0	12	76					G	56270402	T	G	56270402	3	3	22	1	0	0	0	0	1	0	0	0	17448	1493	52	4	977	4	XKR4	8	56270402	Missense_Mutation	SNP	T	TCGA-N7-A4Y5-01A-12D-A28R-08		56270402	90093620	38	2364										
GPR20	2843	broad.mit.edu	37	chr8	142367311	142367311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	tgagcaggagctgcatggccCgcacgcggcgctggcgaccc	16	15	0	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr8:142367311C>T	ENST00000377741.3	-	2	803	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	238					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CTGCATGGCCCGCACGCGGCG	0.667																																						ENST00000377741.3																			0				NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15						c.(712-714)cGg>cAg		G protein-coupled receptor 20							17	14	15					8																	142367311		2178	4277	6455	SO:0001583	missense	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367311C>T	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.713G>A	8.37:g.142367311C>T	ENSP00000366970:p.Arg238Gln		Somatic					p.R238Q	NM_005293.2	NP_005284.2	WXS	Illumina GAIIx	Phase_I	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	803	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		238					Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	c.713G>A	CCDS34949.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853971	0.71719	.	.	ENSG00000204882	ENST00000377741	T	0.40225	1.04	4.77	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.179093	0.36066	U	0.002817	T	0.41465	0.1160	L	0.54908	1.71	0.27378	N	0.955491	D	0.54772	0.968	P	0.47162	0.54	T	0.38779	-0.9645	10	0.72032	D	0.01	-27.1861	7.7726	0.29017	0.0:0.7354:0.0:0.2646	.	238	Q99678	GPR20_HUMAN	Q	238	ENSP00000366970:R238Q	ENSP00000366970:R238Q	R	-	2	0	GPR20	142436493	0.924000	0.31332	0.994000	0.49952	0.910000	0.53928	2.540000	0.45727	1.000000	0.39049	0.462000	0.41574	CGG		0.667	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		3	23	0	0	0	1	0	3	23					T	142367311	C	T	142367311	3	4	22	1	0	0	0	0	1	0	0	0	6688	652	23	1	367	1	GPR20	8	142367311	Missense_Mutation	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	86096909	142367311	3996711	39	2365										
EPPK1	83481	broad.mit.edu	37	chr8	144940592	144940592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	ccaccgacagcctcaggttgCgcacggggtcgatgacgaag	14	13	1	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr8:144940592C>T	ENST00000525985.1	-	2	6901	c.6830G>A	c.(6829-6831)cGc>cAc	p.R2277H				P58107	EPIPL_HUMAN	epiplakin 1	2277						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)			CCTCAGGTTGCGCACGGGGTC	0.726																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6829-6831)cGc>cAc		epiplakin 1							52	48	49					8																	144940592		2162	4234	6396	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940592C>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.6830G>A	8.37:g.144940592C>T	ENSP00000436337:p.Arg2277His		Somatic					p.R2277H			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	6901	-	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)		2277					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6830G>A		.	.	.	.	.	.	.	.	.	.	C	14.51	2.558039	0.45590	.	.	ENSG00000227184	ENST00000525985	T	0.73047	-0.71	4.63	-0.861	0.10676	.	.	.	.	.	T	0.50633	0.1627	N	0.12182	0.205	0.21740	N	0.999565	B	0.19445	0.036	B	0.26094	0.066	T	0.38993	-0.9635	9	0.39692	T	0.17	.	9.0307	0.36258	0.0:0.3929:0.0:0.6071	.	2277	E9PPU0	.	H	2277	ENSP00000436337:R2277H	ENSP00000436337:R2277H	R	-	2	0	EPPK1	145012580	0.000000	0.05858	0.041000	0.18516	0.997000	0.91878	-0.986000	0.03747	-0.395000	0.07715	0.586000	0.80456	CGC		0.726	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		13	263	0	0	0	1	0	13	263					T	144940592	C	T	144940592	3	4	22	1	0	0	0	0	1	0	0	0	5192	768	27	1	436	1	EPPK1	8	144940592	Missense_Mutation	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	2573281	144940592	1423430	40	2366										
MFSD3	113655	broad.mit.edu	37	chr8	145735980	145735980	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	catttcccacccccatcccaGgaaactgctgcctctgttga	6	17	1	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr8:145735980G>A	ENST00000301327.4	+	3	1090		c.e3-1		RECQL4_ENST00000532237.1_5'Flank|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCCCATCCCAGGAAACTGCTG	0.637																																						ENST00000301327.4																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8						c.e3-1		major facilitator superfamily domain containing 3							102	114	110					8																	145735980		2203	4300	6503	SO:0001630	splice_region_variant	113655				transmembrane transport	integral to membrane		g.chr8:145735980G>A		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.831-1G>A	8.37:g.145735980G>A			Somatic						NM_138431.1	NP_612440.1	WXS	Illumina GAIIx	Phase_I	Q96ES6	MFSD3_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	1090	+	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)								Splice_Site	SNP	ENST00000301327.4	37		CCDS6431.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456404	0.26161	.	.	ENSG00000167700	ENST00000301327	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2986	0.66331	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MFSD3	145706788	0.993000	0.37304	0.902000	0.35471	0.024000	0.10985	2.582000	0.46085	2.444000	0.82710	0.561000	0.74099	.		0.637	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431	Intron	164	158	0	0	0	1	0	164	158					A	145735980	G	A	145735980	5	1	22	1	0	0	0	0	0	0	1	0	9541	1014	35	3	840	3	MFSD3	8	145735980	Splice_Site	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08	795388	145735980	628042	41	2367										
ANGPTL2	23452	broad.mit.edu	37	chr9	129853995	129853995	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	agggtggtgaactgcttgccGttgtgccatgtaaaggagtc	15	7	0	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr9:129853995G>A	ENST00000373425.3	-	4	1853	c.1236C>T	c.(1234-1236)aaC>aaT	p.N412N	RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Silent_p.N110N|RALGPS1_ENST00000394022.3_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	412	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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						ACTGCTTGCCGTTGTGCCATG	0.537																																						ENST00000373425.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(1234-1236)aaC>aaT		angiopoietin-like 2							209	202	205					9																	129853995		2203	4300	6503	SO:0001819	synonymous_variant	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129853995G>A	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.1236C>T	9.37:g.129853995G>A			Somatic				RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000373417.1_Silent_p.N110N	p.N412N	NM_012098.2	NP_036230.1	WXS	Illumina GAIIx	Phase_I	Q9UKU9	ANGL2_HUMAN			4	1853	-			412			Fibrinogen C-terminal.		Q5JT58|Q8NCH7	Silent	SNP	ENST00000373425.3	37	c.1236C>T	CCDS6868.1																																																																																				0.537	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		99	94	0	0	0	1	0	99	94					A	129853995	G	A	129853995	2	1	22	1	0	0	0	0	0	0	0	1	614	1136	40	1		1	ANGPTL2	9	129853995	Silent	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08		129853995	11359436	42	2368										
OR51A7	119687	broad.mit.edu	37	chr11	4929145	4929145	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	cactcatactgtcttcatcaGgataccatgaagctggcctg	8	12	4	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr11:4929145G>C	ENST00000359350.4	+	1	546	c.546G>C	c.(544-546)caG>caC	p.Q182H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	182						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)		GTCTTCATCAGGATACCATGA	0.403																																						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.(544-546)caG>caC		olfactory receptor, family 51, subfamily A, member 7							183	154	163					11																	4929145		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4929145G>C	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.546G>C	11.37:g.4929145G>C	ENSP00000352305:p.Gln182His		Somatic				MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.Q182H	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	546	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	182					Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.546G>C	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881912	0.33255	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.36878	1.23	5.02	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.155531	0.30185	N	0.010212	T	0.40196	0.1107	M	0.81682	2.555	0.22591	N	0.998951	B	0.34399	0.452	B	0.37346	0.247	T	0.36578	-0.9742	10	0.62326	D	0.03	.	9.1967	0.37233	0.3068:0.0:0.6932:0.0	.	182	Q8NH64	O51A7_HUMAN	H	182;182;171	ENSP00000352305:Q182H	ENSP00000352305:Q182H	Q	+	3	2	OR51A7	4885721	0.000000	0.05858	0.998000	0.56505	0.988000	0.76386	-0.546000	0.06062	0.035000	0.15519	-0.140000	0.14226	CAG		0.403	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		21	41	0	0	0	1	0	21	41					C	4929145	G	C	4929145	3	2	22	1	0	0	0	0	1	0	0	0	11097	991	35	5	548	5	OR51A7	11	4929145	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08		4929145	130077371	43	2369										
OR9Q2	219957	broad.mit.edu	37	chr11	57958846	57958846	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	tatctatagcctgagaaacaAggaggtaaaagaggccacta	10	7	1	2			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr11:57958846A>G	ENST00000311591.3	+	1	941	c.884A>G	c.(883-885)aAg>aGg	p.K295R		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)				CTGAGAAACAAGGAGGTAAAA	0.498																																						ENST00000311591.3																			0				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.(883-885)aAg>aGg		olfactory receptor, family 9, subfamily Q, member 2							65	69	68					11																	57958846		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958846A>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.884A>G	11.37:g.57958846A>G	ENSP00000308714:p.Lys295Arg		Somatic					p.K295R	NM_001005283.2	NP_001005283.1	WXS	Illumina GAIIx	Phase_I	Q8NGE9	OR9Q2_HUMAN			1	941	+		Breast(21;0.0589)	295						Missense_Mutation	SNP	ENST00000311591.3	37	c.884A>G	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	A	9.847	1.192641	0.21954	.	.	ENSG00000186513	ENST00000311591	T	0.41065	1.01	5.09	3.98	0.46160	.	0.000000	0.48286	D	0.000195	T	0.23886	0.0578	N	0.13198	0.31	0.09310	N	1	B	0.20887	0.049	B	0.19666	0.026	T	0.10636	-1.0621	10	0.59425	D	0.04	-17.0462	6.8443	0.23980	0.787:0.0:0.213:0.0	.	295	Q8NGE9	OR9Q2_HUMAN	R	295	ENSP00000308714:K295R	ENSP00000308714:K295R	K	+	2	0	OR9Q2	57715422	0.352000	0.24895	0.774000	0.31636	0.390000	0.30446	1.465000	0.35299	2.255000	0.74692	0.533000	0.62120	AAG		0.498	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		32	49	0	0	0	1	0	32	49					G	57958846	A	G	57958846	3	3	22	1	0	0	0	0	1	0	0	0	11265	72	3	4	886	4	OR9Q2	11	57958846	Missense_Mutation	SNP	A	TCGA-N7-A4Y5-01A-12D-A28R-08	53029701	57958846	77047670	44	2370										
NRXN2	9379	broad.mit.edu	37	chr11	64453157	64453157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	acccggacgtcgtgccaggcGttgtcgttgaacttgccatt	12	12	0	1	rs201527514		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr11:64453157G>A	ENST00000377551.1	-	5	1324	c.1113C>T	c.(1111-1113)aaC>aaT	p.N371N	NRXN2_ENST00000265459.6_Silent_p.N371N|NRXN2_ENST00000409571.1_Silent_p.N371N|NRXN2_ENST00000377559.3_Silent_p.N347N			Q9P2S2	NRX2A_HUMAN	neurexin 2	371	Laminin G-like 2. {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						CGTGCCAGGCGTTGTCGTTGA	0.592													G|||	1	0.000199681	0	0	5008	,	,		19869	0		0.001	False		,,,				2504	0					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.(1111-1113)aaC>aaT		neurexin 2							148	139	142					11																	64453157		2201	4297	6498	SO:0001819	synonymous_variant	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64453157G>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.1113C>T	11.37:g.64453157G>A			Somatic				NRXN2_ENST00000377551.1_Silent_p.N371N|NRXN2_ENST00000377559.3_Silent_p.N347N|NRXN2_ENST00000409571.1_Silent_p.N371N	p.N371N	NM_015080.3	NP_055895.1	WXS	Illumina GAIIx	Phase_I	Q9P2S2	NRX2A_HUMAN			6	1574	-			371			Laminin G-like 2.		A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	c.1113C>T	CCDS8077.1	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	9.111|9.111	1.006530|1.006530	0.19199|0.19199	.|.	.|.	ENSG00000110076|ENSG00000110076	ENST00000437746|ENST00000417749	.|.	.|.	.|.	4.0|4.0	2.05|2.05	0.26809|0.26809	.|.	.|.	.|.	.|.	.|.	T|T	0.56558|0.56558	0.1993|0.1993	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51124|0.51124	-0.8745|-0.8745	4|4	.|.	.|.	.|.	.|.	8.614|8.614	0.33820|0.33820	0.2139:0.0:0.7861:0.0|0.2139:0.0:0.7861:0.0	.|.	.|.	.|.	.|.	C|M	161|132	.|.	.|.	R|T	-|-	1|2	0|0	NRXN2|NRXN2	64209733|64209733	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	0.920000|0.920000	0.28705|0.28705	0.806000|0.806000	0.34183|0.34183	0.467000|0.467000	0.42956|0.42956	CGC|ACG		0.592	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		62	65	0	0	0	1	0	62	65					A	64453157	G	A	64453157	2	1	22	1	0	0	0	0	0	0	0	1	10675	1136	40	1		1	NRXN2	11	64453157	Silent	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08	6494311	64453157	70553359	45	2371										
MOGAT2	80168	broad.mit.edu	37	chr11	75439191	75439191	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	ggctcgccctgacacacgggTatcaagcctctgggaagagc	13	13	2	2			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr11:75439191T>C	ENST00000198801.5	+	4	720		c.e4+2		MOGAT2_ENST00000526712.1_Splice_Site	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2						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)					GACACACGGGTATCAAGCCTC	0.547																																						ENST00000526712.1																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.e3+2		monoacylglycerol O-acyltransferase 2							26	23	24					11																	75439191		2200	4293	6493	SO:0001630	splice_region_variant	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75439191T>C	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.650+2T>C	11.37:g.75439191T>C			Somatic				MOGAT2_ENST00000198801.5_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q3SYC2	MOGT2_HUMAN			3	1177	+	Ovarian(111;0.103)							A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Splice_Site	SNP	ENST00000198801.5	37		CCDS8240.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.629771	0.87660	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.335	0.66584	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MOGAT2	75116839	1.000000	0.71417	0.971000	0.41717	0.945000	0.59286	7.568000	0.82369	2.271000	0.75665	0.459000	0.35465	.		0.547	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098	Intron	15	3	0	0	0	1	0	15	3					C	75439191	T	C	75439191	5	2	22	1	0	0	0	0	0	0	1	0	9704	1652	57	4	666	4	MOGAT2	11	75439191	Splice_Site	SNP	T	TCGA-N7-A4Y5-01A-12D-A28R-08	10986034	75439191	59567325	46	2372										
CRTAM	56253	broad.mit.edu	37	chr11	122726442	122726442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	tgaaactgatgggaagaaatGtaatactaccagcactctca	8	8	1	3			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr11:122726442G>A	ENST00000227348.4	+	5	577	c.530G>A	c.(529-531)tGt>tAt	p.C177Y		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		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;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGGAAGAAATGTAATACTACC	0.413																																						ENST00000227348.4																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19						c.(529-531)tGt>tAt		cytotoxic and regulatory T cell molecule							112	108	109					11																	122726442		2202	4299	6501	SO:0001583	missense	56253				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	g.chr11:122726442G>A	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	24313	protein-coding gene	gene with protein product	"class I MHC restricted T cell associated molecule"	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.530G>A	11.37:g.122726442G>A	ENSP00000227348:p.Cys177Tyr		Somatic					p.C177Y	NM_019604.2	NP_062550.2	WXS	Illumina GAIIx	Phase_I	O95727	CRTAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	5	577	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	177			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000227348.4	37	c.530G>A	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	G	6.466	0.454122	0.12283	.	.	ENSG00000109943	ENST00000227348	T	0.09817	2.94	4.86	1.9	0.25705	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.491146	0.24388	N	0.038957	T	0.16685	0.0401	M	0.62723	1.935	0.09310	N	0.999997	D	0.57257	0.979	P	0.61477	0.889	T	0.11641	-1.0579	10	0.02654	T	1	.	5.6441	0.17580	0.2527:0.1563:0.591:0.0	.	177	O95727	CRTAM_HUMAN	Y	177	ENSP00000227348:C177Y	ENSP00000227348:C177Y	C	+	2	0	CRTAM	122231652	0.776000	0.28616	0.001000	0.08648	0.477000	0.33069	1.379000	0.34340	0.188000	0.20168	0.462000	0.41574	TGT		0.413	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604		16	25	0	0	0	1	0	16	25					A	122726442	G	A	122726442	3	1	22	1	0	0	0	0	1	0	0	0	3899	1377	48	3	548	3	CRTAM	11	122726442	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08	47287251	122726442	12280074	47	2373										
VWA5A	4013	broad.mit.edu	37	chr11	124006949	124006949	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	tccccagaacagactgtcatCtttaggggtcagagattaat	9	9	3	3			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr11:124006949C>G	ENST00000456829.2	+	13	1724	c.1473C>G	c.(1471-1473)atC>atG	p.I491M	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.I491M	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	491								p.I491I(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						AGACTGTCATCTTTAGGGGTC	0.493																																						ENST00000456829.2																			1	Substitution - coding silent(1)	p.I491I(1)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1471-1473)atC>atG		von Willebrand factor A domain containing 5A							115	106	109					11																	124006949		2201	4299	6500	SO:0001583	missense	4013							g.chr11:124006949C>G	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1473C>G	11.37:g.124006949C>G	ENSP00000407726:p.Ile491Met		Somatic				VWA5A_ENST00000392748.1_Missense_Mutation_p.I491M|VWA5A_ENST00000360334.4_Intron	p.I491M	NM_001130142.1	NP_001123614.1	WXS	Illumina GAIIx	Phase_I	O00534	VMA5A_HUMAN			13	1724	+			491					Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.1473C>G	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874173	0.33069	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.04970	3.52;3.52	5.35	3.49	0.39957	.	0.298040	0.34959	N	0.003548	T	0.11707	0.0285	M	0.80847	2.515	0.80722	D	1	P	0.45078	0.85	B	0.42163	0.378	T	0.01715	-1.1289	10	0.66056	D	0.02	-17.7334	9.8694	0.41164	0.0:0.8316:0.0:0.1684	.	491	O00534	VMA5A_HUMAN	M	491	ENSP00000407726:I491M;ENSP00000376504:I491M	ENSP00000376504:I491M	I	+	3	3	VWA5A	123512159	0.997000	0.39634	0.216000	0.23742	0.320000	0.28249	0.310000	0.19356	0.643000	0.30638	-0.143000	0.13931	ATC		0.493	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		26	39	0	0	0	1	0	26	39					G	124006949	C	G	124006949	3	3	22	1	0	0	0	0	1	0	0	0	17257	903	32	2	1519	2	VWA5A	11	124006949	Missense_Mutation	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	1280507	124006949	10999567	48	2374										
MLL2	8085	broad.mit.edu	37	chr12	49445979	49445979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	gaggagactcctcaggcggcGgagagaggggcgattcctcc	17	11	1	2			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr12:49445979G>A	ENST00000301067.7	-	10	1486	c.1487C>T	c.(1486-1488)cCg>cTg	p.P496L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	496	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTCAGGCGGCGGAGAGAGGGG	0.617																																						ENST00000301067.7																			0											c.(1486-1488)cCg>cTg		lysine (K)-specific methyltransferase 2D							61	69	67					12																	49445979		2065	4197	6262	SO:0001583	missense	8085							g.chr12:49445979G>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.1487C>T	12.37:g.49445979G>A	ENSP00000301067:p.Pro496Leu		Somatic					p.P496L	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					10	1486	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.1487C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	6.981	0.551113	0.13374	.	.	ENSG00000167548	ENST00000301067	T	0.78126	-1.15	4.33	3.43	0.39272	.	.	.	.	.	T	0.54464	0.1860	N	0.08118	0	0.35165	D	0.771019	P	0.35011	0.48	B	0.24006	0.05	T	0.67883	-0.5555	9	0.87932	D	0	.	9.9567	0.41671	0.1035:0.0:0.8965:0.0	.	496	O14686	MLL2_HUMAN	L	496	ENSP00000301067:P496L	ENSP00000301067:P496L	P	-	2	0	MLL2	47732246	0.997000	0.39634	0.924000	0.36721	0.210000	0.24377	2.691000	0.47010	2.401000	0.81631	0.462000	0.41574	CCG		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			20	78	0	0	0	1	0	20	78					A	49445979	G	A	49445979	3	1	22	1	0	0	0	0	1	0	0	0	9630	1116	39	1	15306	1	MLL2	12	49445979	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08		49445979	84405916	49	2375										
KIF5A	3798	broad.mit.edu	37	chr12	57972082	57972082	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	ccaaaagcagaagatttcctTtcttgagaacaacctggaac	7	10	1	3			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr12:57972082T>G	ENST00000455537.2	+	23	2769	c.2495T>G	c.(2494-2496)tTt>tGt	p.F832C	KIF5A_ENST00000286452.5_Missense_Mutation_p.F743C	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	832					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						AAGATTTCCTTTCTTGAGAAC	0.478																																						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.(2494-2496)tTt>tGt		kinesin family member 5A							83	81	82					12																	57972082		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57972082T>G	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.2495T>G	12.37:g.57972082T>G	ENSP00000408979:p.Phe832Cys		Somatic				KIF5A_ENST00000286452.5_Missense_Mutation_p.F743C	p.F832C	NM_004984.2	NP_004975.2	WXS	Illumina GAIIx	Phase_I	Q12840	KIF5A_HUMAN			23	2769	+			832					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.2495T>G	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430535	0.83776	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.88975	-2.45;-2.45	5.15	5.15	0.70609	.	0.056012	0.64402	D	0.000001	D	0.95223	0.8451	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96001	0.8993	10	0.87932	D	0	.	14.4593	0.67438	0.0:0.0:0.0:1.0	.	743;832	B7Z2M7;Q12840	.;KIF5A_HUMAN	C	832;743	ENSP00000408979:F832C;ENSP00000286452:F743C	ENSP00000286452:F743C	F	+	2	0	KIF5A	56258349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.864000	0.87037	2.313000	0.78055	0.456000	0.33151	TTT		0.478	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		41	113	0	0	0	1	0	41	113					G	57972082	T	G	57972082	3	3	22	1	0	0	0	0	1	0	0	0	8314	1841	64	4	2585	4	KIF5A	12	57972082	Missense_Mutation	SNP	T	TCGA-N7-A4Y5-01A-12D-A28R-08	8526103	57972082	75879813	50	2376										
KIAA1033	23325	broad.mit.edu	37	chr12	105543428	105543428	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	cagtttttgaaaaagaagttCtatatatttagccaatttat	5	4	1	2			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr12:105543428C>T	ENST00000332180.5	+	25	2637	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F		NM_015275.1	NP_056090.1			KIAA1033									p.F850L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAAAGAAGTTCTATATATTTA	0.234																																						ENST00000332180.5																			1	Substitution - Missense(1)	p.F850L(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2548-2550)ttC>ttT		KIAA1033							51	52	52					12																	105543428		1777	4026	5803	SO:0001819	synonymous_variant	23325				endosome transport	WASH complex		g.chr12:105543428C>T	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2550C>T	12.37:g.105543428C>T			Somatic					p.F850F	NM_015275.1	NP_056090.1	WXS	Illumina GAIIx	Phase_I	Q2M389	WAHS7_HUMAN			25	2637	+			850						Silent	SNP	ENST00000332180.5	37	c.2550C>T	CCDS41826.1																																																																																				0.234	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		21	24	0	0	0	1	0	21	24					T	105543428	C	T	105543428	2	4	22	1	0	0	0	0	0	0	0	1	8215	912	32	3		3	KIAA1033	12	105543428	Silent	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	47571346	105543428	28308467	51	2377										
SACS	26278	broad.mit.edu	37	chr13	23908318	23908318	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	tgcaaaattgtctttccactTtgtgcaacttttggtcttat	6	8	2	0			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr13:23908318T>C	ENST00000382292.3	-	9	9970	c.9697A>G	c.(9697-9699)Aag>Gag	p.K3233E	SACS_ENST00000382298.3_Missense_Mutation_p.K3233E|SACS_ENST00000402364.1_Missense_Mutation_p.K2483E			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3233					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)		TCTTTCCACTTTGTGCAACTT	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.(9697-9699)Aag>Gag		spastic ataxia of Charlevoix-Saguenay (sacsin)							90	87	88					13																	23908318		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.chr13:23908318T>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.9697A>G	13.37:g.23908318T>C	ENSP00000371729:p.Lys3233Glu		Somatic				SACS_ENST00000382292.3_Missense_Mutation_p.K3233E|SACS_ENST00000402364.1_Missense_Mutation_p.K2483E	p.K3233E	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	10285	-		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)	3233					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.9697A>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	10.46	1.357195	0.24598	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86865	-2.03;-2.18;-2.03	5.31	4.16	0.48862	.	0.107627	0.64402	D	0.000009	T	0.75064	0.3799	N	0.11560	0.145	0.29872	N	0.826723	B	0.18741	0.03	B	0.18561	0.022	T	0.69117	-0.5230	10	0.46703	T	0.11	.	11.4549	0.50176	0.0:0.0:0.325:0.6749	.	3233	Q9NZJ4	SACS_HUMAN	E	3233;2483;3233	ENSP00000371729:K3233E;ENSP00000385844:K2483E;ENSP00000371735:K3233E	ENSP00000371729:K3233E	K	-	1	0	SACS	22806318	1.000000	0.71417	0.657000	0.29651	0.694000	0.40290	4.258000	0.58822	0.974000	0.38366	0.454000	0.30748	AAG		0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		22	40	0	0	0	1	0	22	40					C	23908318	T	C	23908318	3	2	22	1	0	0	0	0	1	0	0	0	13819	1850	64	4	4046	4	SACS	13	23908318	Missense_Mutation	SNP	T	TCGA-N7-A4Y5-01A-12D-A28R-08		23908318	91261560	52	2378										
B3GALTL	145173	broad.mit.edu	37	chr13	31835102	31835102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	ggaatggtttttgggaaaagCattacatgatgaagaagcta	12	3	0	3			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr13:31835102C>T	ENST00000343307.4	+	7	628	c.479C>T	c.(478-480)gCa>gTa	p.A160V	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	160					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TTGGGAAAAGCATTACATGAT	0.348																																						ENST00000343307.4																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(478-480)gCa>gTa		beta 1,3-galactosyltransferase-like							95	97	96					13																	31835102		2203	4300	6503	SO:0001583	missense	145173				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr13:31835102C>T	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"Beta 3-glycosyltransferases"	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.479C>T	13.37:g.31835102C>T	ENSP00000343002:p.Ala160Val		Somatic				B3GALTL_ENST00000461652.2_3'UTR	p.A160V	NM_194318.3	NP_919299.3	WXS	Illumina GAIIx	Phase_I	Q6Y288	B3GLT_HUMAN		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)	7	628	+		Lung SC(185;0.0257)	160					A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	ENST00000343307.4	37	c.479C>T	CCDS9341.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799702	0.90538	.	.	ENSG00000187676	ENST00000343307	T	0.63255	-0.03	5.38	5.38	0.77491	.	0.055303	0.64402	D	0.000001	T	0.79902	0.4526	M	0.79258	2.445	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	T	0.82165	-0.0592	10	0.72032	D	0.01	-24.1151	19.1358	0.93428	0.0:1.0:0.0:0.0	.	160	Q6Y288	B3GLT_HUMAN	V	160	ENSP00000343002:A160V	ENSP00000343002:A160V	A	+	2	0	B3GALTL	30733102	1.000000	0.71417	0.971000	0.41717	0.993000	0.82548	5.414000	0.66405	2.523000	0.85059	0.650000	0.86243	GCA		0.348	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		7	8	0	0	0	1	0	7	8					T	31835102	C	T	31835102	3	4	22	1	0	0	0	0	1	0	0	0	1252	710	25	3	505	3	B3GALTL	13	31835102	Missense_Mutation	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	7926784	31835102	83334776	53	2379										
OR4K2	390431	broad.mit.edu	37	chr14	20344949	20344949	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	tctgtggtccctatgaggtaGacagctttttctgtgacctt	10	9	2	3			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr14:20344949G>T	ENST00000298642.2	+	1	559	c.523G>T	c.(523-525)Gac>Tac	p.D175Y		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	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(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)		CTATGAGGTAGACAGCTTTTT	0.458																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(523-525)Gac>Tac		olfactory receptor, family 4, subfamily K, member 2							432	425	427					14																	20344949		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344949G>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"GPCR / Class A : Olfactory receptors"	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.523G>T	14.37:g.20344949G>T	ENSP00000298642:p.Asp175Tyr		Somatic					p.D175Y	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	559	+	all_cancers(95;0.00108)		175					B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.523G>T	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	9.760	1.169799	0.21621	.	.	ENSG00000165762	ENST00000298642	T	0.00193	8.58	5.12	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.120078	0.36740	N	0.002435	T	0.00412	0.0013	M	0.85373	2.75	0.09310	N	1	B	0.25772	0.134	B	0.40565	0.333	T	0.05989	-1.0852	10	0.87932	D	0	.	12.0283	0.53384	0.0:0.3351:0.6649:0.0	.	175	Q8NGD2	OR4K2_HUMAN	Y	175	ENSP00000298642:D175Y	ENSP00000298642:D175Y	D	+	1	0	OR4K2	19414789	0.000000	0.05858	0.795000	0.32087	0.632000	0.37999	-0.216000	0.09266	1.370000	0.46153	0.563000	0.77884	GAC		0.458	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			124	229	1	0	1.77382e-44	1	1.96616e-44	124	229					T	20344949	G	T	20344949	3	4	22	1	0	0	0	0	1	0	0	0	11081	942	33	2	525	2	OR4K2	14	20344949	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08		20344949	87004591	54	2380										
LRP10	26020	broad.mit.edu	37	chr14	23345059	23345059	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	tggtcgtggcttcaatgccaCctaccatgtgcggggctatt	12	11	1	0			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr14:23345059C>G	ENST00000359591.4	+	5	1593	c.902C>G	c.(901-903)aCc>aGc	p.T301S	LRP10_ENST00000546834.1_Missense_Mutation_p.T301S	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	301	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)		TTCAATGCCACCTACCATGTG	0.582																																						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.(901-903)aCc>aGc		low density lipoprotein receptor-related protein 10							93	80	84					14																	23345059		2203	4300	6503	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23345059C>G	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.902C>G	14.37:g.23345059C>G	ENSP00000352601:p.Thr301Ser		Somatic				LRP10_ENST00000546834.1_Missense_Mutation_p.T301S	p.T301S	NM_014045.3	NP_054764.2	WXS	Illumina GAIIx	Phase_I	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	5	1593	+	all_cancers(95;4.69e-05)		301			CUB 2.		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.902C>G	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.155855|4.155855	0.78114|0.78114	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000551466|ENST00000359591;ENST00000546834	.|T;T	.|0.18016	.|2.24;2.24	5.97|5.97	5.97|5.97	0.96955|0.96955	.|CUB (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37237|0.37237	0.0996|0.0996	L|L	0.45352|0.45352	1.415|1.415	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.00875|0.00875	-1.1531|-1.1531	5|10	.|0.51188	.|T	.|0.08	-28.3679|-28.3679	19.1994|19.1994	0.93704|0.93704	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|301	.|Q7Z4F1	.|LRP10_HUMAN	Q|S	202|301	.|ENSP00000352601:T301S;ENSP00000447559:T301S	.|ENSP00000352601:T301S	H|T	+|+	3|2	2|0	LRP10|LRP10	22414899|22414899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	7.294000|7.294000	0.78760|0.78760	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	CAC|ACC		0.582	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			24	39	0	0	0	1	0	24	39					G	23345059	C	G	23345059	3	3	22	1	0	0	0	0	1	0	0	0	8961	507	18	5	920	5	LRP10	14	23345059	Missense_Mutation	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	3000110	23345059	84004481	55	2381										
OR2C1	4993	broad.mit.edu	37	chr16	3406726	3406726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	agctatgggtatctgcttccGgccaagaacagcaaacagga	11	10	1	1	rs376908052		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr16:3406726G>A	ENST00000304936.2	+	1	838	c.786G>A	c.(784-786)ccG>ccA	p.P262P		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	262					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ATCTGCTTCCGGCCAAGAACA	0.552																																						ENST00000304936.2																			0				kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(784-786)ccG>ccA		olfactory receptor, family 2, subfamily C, member 1				0,4394		0,0,2197	117	98	105		786	-1.5	0.8	16		105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR2C1	NM_012368.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		262/313	3406726	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	4993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3406726G>A	AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"GPCR / Class A : Olfactory receptors"	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.786G>A	16.37:g.3406726G>A			Somatic					p.P262P	NM_012368.2	NP_036500.2	WXS	Illumina GAIIx	Phase_I	O95371	OR2C1_HUMAN			1	838	+			262					A0AVA4|Q6IF34|Q6IF55	Silent	SNP	ENST00000304936.2	37	c.786G>A	CCDS10502.1																																																																																				0.552	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3			15	38	0	0	0	1	0	15	38					A	3406726	G	A	3406726	2	1	22	1	0	0	0	0	0	0	0	1	11001	1103	39	1		1	OR2C1	16	3406726	Silent	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08		3406726	86948027	56	2382										
TRADD	8717	broad.mit.edu	37	chr16	67189313	67189313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	atgcaactcaaacagcgctcCtcgtccgccagcaaagcgtc	8	16	1	0			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr16:67189313C>T	ENST00000345057.4	-	3	864	c.396G>A	c.(394-396)gaG>gaA	p.E132E	TRADD_ENST00000486556.1_Silent_p.E72E|TRADD_ENST00000566104.1_5'Flank	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	132					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic process (GO:0043065)|positive regulation of hair follicle development (GO:0051798)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|nucleus (GO:0005634)|receptor complex (GO:0043235)	binding, bridging (GO:0060090)|death domain binding (GO:0070513)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AACAGCGCTCCTCGTCCGCCA	0.711																																						ENST00000345057.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11						c.(394-396)gaG>gaA		TNFRSF1A-associated via death domain							8	10	10					16																	67189313		2050	4104	6154	SO:0001819	synonymous_variant	8717				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	g.chr16:67189313C>T	L41690	CCDS10829.1	16q22	2008-07-28			ENSG00000102871	ENSG00000102871			12030	protein-coding gene	gene with protein product		603500				7758105	Standard	NM_003789		Approved	Hs.89862	uc002eri.1	Q15628	OTTHUMG00000137519	ENST00000345057.4:c.396G>A	16.37:g.67189313C>T			Somatic				TRADD_ENST00000486556.1_Silent_p.E72E	p.E132E	NM_003789.3	NP_003780.1	WXS	Illumina GAIIx	Phase_I	Q15628	TRADD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	3	864	-		Ovarian(137;0.0563)	132					B2RDS3|B3KQZ9|Q52NZ1	Silent	SNP	ENST00000345057.4	37	c.396G>A	CCDS10829.1																																																																																				0.711	TRADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268841.2			19	1	0	0	0	1	0	19	1					T	67189313	C	T	67189313	2	4	22	1	0	0	0	0	0	0	0	1	16451	680	24	3		3	TRADD	16	67189313	Silent	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	63782587	67189313	23165440	57	2383										
NLRP1	22861	broad.mit.edu	37	chr17	5485302	5485302	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	cagcactgctgtggatgtggGggcgttgggtgactcctggc	18	9	0	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr17:5485302G>C	ENST00000572272.1	-	3	528	c.529C>G	c.(529-531)Ccc>Gcc	p.P177A	NLRP1_ENST00000577119.1_Missense_Mutation_p.P177A|NLRP1_ENST00000269280.4_Missense_Mutation_p.P177A|NLRP1_ENST00000354411.3_Missense_Mutation_p.P177A|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.P177A|NLRP1_ENST00000345221.3_Missense_Mutation_p.P177A			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	177					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)				GTGGATGTGGGGGCGTTGGGT	0.597																																						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.(529-531)Ccc>Gcc		NLR family, pyrin domain containing 1							48	53	52					17																	5485302		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.chr17:5485302G>C	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.529C>G	17.37:g.5485302G>C	ENSP00000460475:p.Pro177Ala		Somatic				NLRP1_ENST00000572272.1_Missense_Mutation_p.P177A|NLRP1_ENST00000262467.5_Missense_Mutation_p.P177A|NLRP1_ENST00000269280.4_Missense_Mutation_p.P177A|NLRP1_ENST00000354411.3_Missense_Mutation_p.P177A|NLRP1_ENST00000577119.1_Missense_Mutation_p.P177A|NLRP1_ENST00000571307.1_5'UTR	p.P177A	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			3	1083	-		Colorectal(1115;3.48e-05)	177					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.529C>G	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028476	0.35797	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	2.95	1.97	0.26223	.	.	.	.	.	T	0.49304	0.1549	L	0.29908	0.895	0.09310	N	1	P;P;P;P;P	0.52061	0.95;0.95;0.916;0.95;0.916	P;P;B;P;B	0.46339	0.513;0.513;0.314;0.513;0.314	T	0.29882	-0.9997	9	0.31617	T	0.26	.	5.9982	0.19505	0.1463:0.0:0.8537:0.0	.	177;177;177;177;177	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	A	177	ENSP00000442029:P177A;ENSP00000262467:P177A;ENSP00000269280:P177A;ENSP00000346390:P177A;ENSP00000324366:P177A	ENSP00000262467:P177A	P	-	1	0	NLRP1	5426026	0.285000	0.24296	0.006000	0.13384	0.049000	0.14656	2.958000	0.49145	0.792000	0.33850	-0.258000	0.10820	CCC		0.597	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		18	24	0	0	0	1	0	18	24					C	5485302	G	C	5485302	3	2	22	1	0	0	0	0	1	0	0	0	10480	1232	43	5	4027	5	NLRP1	17	5485302	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08		5485302	75709908	58	2384										
TP53	7157	broad.mit.edu	37	chr17	7577569	7577569	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	gcccatgcaggaactgttacAcatgtagttgtagtggatgg	13	7	0	0			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr17:7577569A>G	ENST00000269305.4	-	7	901	c.712T>C	c.(712-714)Tgt>Cgt	p.C238R	TP53_ENST00000455263.2_Missense_Mutation_p.C238R|TP53_ENST00000420246.2_Missense_Mutation_p.C238R|TP53_ENST00000359597.4_Missense_Mutation_p.C238R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C238R|TP53_ENST00000413465.2_Missense_Mutation_p.C238R	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching 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.C238R(14)|p.C238S(12)|p.0?(8)|p.?(5)|p.C238G(4)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.C238fs*2(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.C145G(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.M237fs*1(1)|p.C238fs*9(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)	GAACTGTTACACATGTAGTTG	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"		60	Substitution - Missense(31)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.C238R(14)|p.C238S(12)|p.0?(8)|p.?(5)|p.C238G(4)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.C238fs*2(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.C145G(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.M237fs*1(1)|p.C238fs*9(1)	ovary(11)|liver(7)|biliary_tract(6)|bone(5)|upper_aerodigestive_tract(4)|large_intestine(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|lung(2)|skin(2)|prostate(2)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|oesophagus(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM025271|CM056070	TP53	M		c.(712-714)Tgt>Cgt	Other conserved DNA damage response genes	tumor protein p53							131	103	112					17																	7577569		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.chr17:7577569A>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.712T>C	17.37:g.7577569A>G	ENSP00000269305:p.Cys238Arg	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.C238R|TP53_ENST00000413465.2_Missense_Mutation_p.C238R|TP53_ENST00000359597.4_Missense_Mutation_p.C238R|TP53_ENST00000445888.2_Missense_Mutation_p.C238R|TP53_ENST00000455263.2_Missense_Mutation_p.C238R	p.C238R	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	844	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.712T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.062565	0.76187	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	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	0.99971	0.9990	M	0.92970	3.365	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	0.95386	0.8477	10	0.87932	D	0	-18.536	11.6823	0.51466	1.0:0.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	R	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238R;ENSP00000352610:C238R;ENSP00000269305:C238R;ENSP00000398846:C238R;ENSP00000391127:C238R;ENSP00000391478:C238R;ENSP00000425104:C106R;ENSP00000423862:C145R	ENSP00000269305:C238R	C	-	1	0	TP53	7518294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.021000	0.93673	2.074000	0.62210	0.379000	0.24179	TGT		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		41	6	0	0	0	1	0	41	6					G	7577569	A	G	7577569	3	3	22	1	0	0	0	0	1	0	0	0	16396	159	6	4	578	4	TP53	17	7577569	Missense_Mutation	SNP	A	TCGA-N7-A4Y5-01A-12D-A28R-08	2092267	7577569	73617641	59	2385										
TMEM97	27346	broad.mit.edu	37	chr17	26652535	26652535	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	gttttctttttcagtttagaAacctgctgaagtggtatgct	9	6	2	2			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr17:26652535A>C	ENST00000226230.6	+	2	278	c.133A>C	c.(133-135)Aac>Cac	p.N45H	TMEM97_ENST00000583381.1_5'UTR|TMEM97_ENST00000582113.1_Missense_Mutation_p.N45H|TMEM97_ENST00000336687.6_5'UTR	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	45					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCAGTTTAGAAACCTGCTGAA	0.468																																						ENST00000226230.6																			0				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(133-135)Aac>Cac		transmembrane protein 97							124	124	124					17																	26652535		1879	4117	5996	SO:0001583	missense	27346				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	g.chr17:26652535A>C	BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.133A>C	17.37:g.26652535A>C	ENSP00000226230:p.Asn45His		Somatic				TMEM97_ENST00000582113.1_Missense_Mutation_p.N45H|TMEM97_ENST00000336687.6_5'UTR|TMEM97_ENST00000583381.1_5'UTR	p.N45H	NM_014573.2	NP_055388.2	WXS	Illumina GAIIx	Phase_I	Q5BJF2	TMM97_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	278	+	all_lung(13;0.000238)|Lung NSC(42;0.000789)		45					B4DS02|Q07823	Missense_Mutation	SNP	ENST00000226230.6	37	c.133A>C	CCDS11226.2	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470269	0.84533	.	.	ENSG00000109084	ENST00000226230	.	.	.	5.78	4.68	0.58851	.	0.221856	0.53938	D	0.000058	T	0.55513	0.1925	M	0.63843	1.955	0.80722	D	1	D	0.54601	0.967	P	0.53954	0.738	T	0.58907	-0.7553	9	0.45353	T	0.12	-20.3045	3.9189	0.09234	0.7292:0.0:0.2708:0.0	.	45	Q5BJF2	TMM97_HUMAN	H	45	.	ENSP00000226230:N45H	N	+	1	0	TMEM97	23676662	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.214000	0.58527	2.207000	0.71202	0.460000	0.39030	AAC		0.468	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	NM_014573		53	27	0	0	0	1	0	53	27					C	26652535	A	C	26652535	3	2	22	1	0	0	0	0	1	0	0	0	16239	14	1	4	139	4	TMEM97	17	26652535	Missense_Mutation	SNP	A	TCGA-N7-A4Y5-01A-12D-A28R-08	19074966	26652535	54542675	60	2386										
RNF43	54894	broad.mit.edu	37	chr17	56434921	56434921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	cagaaggcccctccccaggtGgatgtggttccaggggctgg	16	12	0	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr17:56434921G>A	ENST00000584437.1	-	8	4171	c.2216C>T	c.(2215-2217)cCa>cTa	p.P739L	RNF43_ENST00000577625.1_Missense_Mutation_p.P612L|RNF43_ENST00000407977.2_Missense_Mutation_p.P739L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.P612L|RNF43_ENST00000577716.1_Missense_Mutation_p.P739L|RNF43_ENST00000500597.2_Missense_Mutation_p.P698L|RNF43_ENST00000583753.1_Missense_Mutation_p.P698L			Q68DV7	RNF43_HUMAN	ring finger protein 43	739	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCCCCAGGTGGATGTGGTTC	0.607																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(2215-2217)cCa>cTa		ring finger protein 43							78	79	79					17																	56434921		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56434921G>A		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.2216C>T	17.37:g.56434921G>A	ENSP00000463069:p.Pro739Leu		Somatic				RNF43_ENST00000583753.1_Missense_Mutation_p.P698L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Missense_Mutation_p.P612L|RNF43_ENST00000407977.2_Missense_Mutation_p.P739L|RNF43_ENST00000500597.2_Missense_Mutation_p.P698L|RNF43_ENST00000577716.1_Missense_Mutation_p.P739L|RNF43_ENST00000581868.1_Missense_Mutation_p.P612L	p.P739L			WXS	Illumina GAIIx	Phase_I	Q68DV7	RNF43_HUMAN			8	4171	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		739			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.2216C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	3.096	-0.185768	0.06340	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.06768	3.42;3.26	5.71	1.29	0.21616	.	0.248081	0.28977	N	0.013521	T	0.02807	0.0084	N	0.12746	0.255	0.09310	N	1	B;B;B	0.11235	0.0;0.004;0.0	B;B;B	0.11329	0.003;0.006;0.001	T	0.42666	-0.9438	10	0.02654	T	1	-9.5573	1.4958	0.02466	0.188:0.1702:0.4664:0.1755	.	698;739;739	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	L	739;698	ENSP00000385328:P739L;ENSP00000441969:P698L	ENSP00000385328:P739L	P	-	2	0	RNF43	53789920	0.143000	0.22626	0.314000	0.25224	0.282000	0.26991	0.687000	0.25407	0.274000	0.22072	0.511000	0.50034	CCA		0.607	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		44	83	0	0	0	1	0	44	83					A	56434921	G	A	56434921	3	1	22	1	0	0	0	0	1	0	0	0	13510	1348	47	3	143	3	RNF43	17	56434921	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08	29782386	56434921	24760289	61	2387										
MBD1	4152	broad.mit.edu	37	chr18	47799975	47799975	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	agctgcaacagggcccggcaCctgcacaggactgcttgcgc	13	15	0	0			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr18:47799975C>G	ENST00000591416.1	-	12	1836	c.1405G>C	c.(1405-1407)Gtg>Ctg	p.V469L	MBD1_ENST00000436910.1_Missense_Mutation_p.V446L|MBD1_ENST00000457839.2_Missense_Mutation_p.V494L|MBD1_ENST00000398495.2_Missense_Mutation_p.V438L|MBD1_ENST00000398488.1_Missense_Mutation_p.V413L|MBD1_ENST00000590208.1_Missense_Mutation_p.V469L|MBD1_ENST00000424334.2_Missense_Mutation_p.V520L|MBD1_ENST00000347968.3_Missense_Mutation_p.V413L|MBD1_ENST00000398493.1_Missense_Mutation_p.V413L|MBD1_ENST00000585595.1_Missense_Mutation_p.V494L|MBD1_ENST00000585672.1_Missense_Mutation_p.V419L|MBD1_ENST00000587605.1_Missense_Mutation_p.V413L|MBD1_ENST00000269471.5_Missense_Mutation_p.V446L|MBD1_ENST00000269468.5_Missense_Mutation_p.V469L|MBD1_ENST00000591535.1_Missense_Mutation_p.V446L|MBD1_ENST00000382948.5_Missense_Mutation_p.V469L|MBD1_ENST00000588937.1_Missense_Mutation_p.V446L|MBD1_ENST00000349085.2_Missense_Mutation_p.V413L|MBD1_ENST00000353909.3_Missense_Mutation_p.V420L|MBD1_ENST00000339998.6_Missense_Mutation_p.V469L			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	469					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						GGGCCCGGCACCTGCACAGGA	0.642																																						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.(1405-1407)Gtg>Ctg		methyl-CpG binding domain protein 1							39	39	39					18																	47799975		2203	4300	6503	SO:0001583	missense	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47799975C>G	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.1405G>C	18.37:g.47799975C>G	ENSP00000467017:p.Val469Leu		Somatic				MBD1_ENST00000339998.6_Missense_Mutation_p.V469L|MBD1_ENST00000398493.1_Missense_Mutation_p.V413L|MBD1_ENST00000398488.1_Missense_Mutation_p.V413L|MBD1_ENST00000585672.1_Missense_Mutation_p.V419L|MBD1_ENST00000587605.1_Missense_Mutation_p.V413L|MBD1_ENST00000269468.5_Missense_Mutation_p.V469L|MBD1_ENST00000585595.1_Missense_Mutation_p.V494L|MBD1_ENST00000269471.5_Missense_Mutation_p.V446L|MBD1_ENST00000457839.2_Missense_Mutation_p.V494L|MBD1_ENST00000436910.1_Missense_Mutation_p.V446L|MBD1_ENST00000424334.2_Missense_Mutation_p.V520L|MBD1_ENST00000588937.1_Missense_Mutation_p.V446L|MBD1_ENST00000398495.2_Missense_Mutation_p.V438L|MBD1_ENST00000382948.5_Missense_Mutation_p.V469L|MBD1_ENST00000353909.3_Missense_Mutation_p.V420L|MBD1_ENST00000349085.2_Missense_Mutation_p.V413L|MBD1_ENST00000591535.1_Missense_Mutation_p.V446L|MBD1_ENST00000347968.3_Missense_Mutation_p.V413L|MBD1_ENST00000590208.1_Missense_Mutation_p.V469L	p.V469L			WXS	Illumina GAIIx	Phase_I	Q9UIS9	MBD1_HUMAN			12	1836	-			469					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.1405G>C	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348449	0.41599	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D	0.96427	-3.9;-3.92;-4.01;-3.9;-3.98;-3.98;-3.99;-3.93;-3.92;-3.9;-3.98;-4.01	4.45	3.56	0.40772	.	0.264692	0.27522	N	0.018981	D	0.95401	0.8507	L	0.27053	0.805	0.27535	N	0.950989	P;P;B;B;P;P;B;D;B;B;B;B	0.53312	0.836;0.955;0.384;0.158;0.832;0.898;0.25;0.959;0.158;0.373;0.158;0.373	B;D;B;B;B;B;B;D;B;B;B;B	0.67103	0.245;0.946;0.207;0.156;0.426;0.426;0.184;0.949;0.156;0.297;0.156;0.297	D	0.89875	0.4026	10	0.54805	T	0.06	-6.1302	8.9585	0.35832	0.0:0.8984:0.0:0.1016	.	413;520;446;469;469;446;420;413;469;413;494;413	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	L	469;420;413;469;413;446;446;520;469;469;494;413;413	ENSP00000372407:V469L;ENSP00000269469:V420L;ENSP00000342531:V413L;ENSP00000269468:V469L;ENSP00000285102:V413L;ENSP00000409561:V446L;ENSP00000269471:V446L;ENSP00000408846:V520L;ENSP00000339546:V469L;ENSP00000405268:V494L;ENSP00000381506:V413L;ENSP00000381502:V413L	ENSP00000269468:V469L	V	-	1	0	MBD1	46053973	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	1.806000	0.38892	1.439000	0.47511	0.561000	0.74099	GTG		0.642	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		21	20	0	0	0	1	0	21	20					G	47799975	C	G	47799975	3	3	22	1	0	0	0	0	1	0	0	0	9351	507	18	5	626	5	MBD1	18	47799975	Missense_Mutation	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08		47799975	30277273	62	2388										
ICAM4	3386	broad.mit.edu	37	chr19	10398002	10398002	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	ttaccagctgctcgacgtgaGggcctggagctccctcgcgc	13	15	0	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr19:10398002G>C	ENST00000380770.3	+	1	360	c.314G>C	c.(313-315)aGg>aCg	p.R105T	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_Missense_Mutation_p.R105T|ICAM5_ENST00000221980.4_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_Missense_Mutation_p.R105T	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	105	Ig-like C2-type 1.				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)			CTCGACGTGAGGGCCTGGAGC	0.667																																						ENST00000393717.2																			0				breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7						c.(313-315)aGg>aCg		intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)							23	24	23					19																	10398002		2203	4300	6503	SO:0001583	missense	3386				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding	g.chr19:10398002G>C	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.314G>C	19.37:g.10398002G>C	ENSP00000370147:p.Arg105Thr		Somatic				CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Missense_Mutation_p.R105T|ICAM4_ENST00000340992.4_Missense_Mutation_p.R105T	p.R105T	NM_022377.3	NP_071772.1	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)		1	323	+			105			Ig-like C2-type 1.		A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Missense_Mutation	SNP	ENST00000380770.3	37	c.314G>C	CCDS12232.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159732	0.38119	.	.	ENSG00000105371	ENST00000340992;ENST00000380770;ENST00000393717	T;T;T	0.12569	2.67;2.67;2.67	4.18	3.11	0.35812	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.270367	0.31257	N	0.007969	T	0.09247	0.0228	L	0.34521	1.04	0.29345	N	0.865727	P;P;B	0.42785	0.75;0.79;0.43	B;B;B	0.38954	0.187;0.285;0.286	T	0.12811	-1.0533	10	0.15499	T	0.54	-10.0181	9.5824	0.39495	0.0:0.214:0.786:0.0	.	105;105;105	Q14773-2;Q14773;Q9BWR0	.;ICAM4_HUMAN;.	T	105	ENSP00000342114:R105T;ENSP00000370147:R105T;ENSP00000377320:R105T	ENSP00000342114:R105T	R	+	2	0	ICAM4	10259002	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	1.246000	0.32803	0.933000	0.37291	0.491000	0.48974	AGG		0.667	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544		10	29	0	0	0	1	0	10	29					C	10398002	G	C	10398002	3	2	22	1	0	0	0	0	1	0	0	0	7491	1000	35	5	316	5	ICAM4	19	10398002	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08		10398002	48730981	63	2389										
ARHGAP35	2909	broad.mit.edu	37	chr19	47491244	47491249	+	Splice_Site	DEL	AGGACT	AGGACT	-													0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	gaccctgcctgtttctcctcAggactgagcacggaaggcat							TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr19:47491244_47491249delAGGACT	ENST00000404338.3	+	3	3826_3830	c.3826_3830delAGGACT	c.(3826-3831)aggact>t	p.RT1276del		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1276	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.G1276V(4)|p.?(2)									GTTTCTCCTCAGGACTGAGCACGGAA	0.558																																						ENST00000404338.3																			6	Substitution - Missense(4)|Unknown(2)	p.G1276V(4)|p.?(2)	lung(4)|kidney(2)								c.e3-1		Rho GTPase activating protein 35																																				SO:0001630	splice_region_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47491244_47491249delAGGACT	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.3827-1AGGACT>-	19.37:g.47491244_47491249delAGGACT			Somatic					p.1276_splice	NM_004491.4	NP_004482.4	WXS	Illumina GAIIx	Phase_I	Q9NRY4	RHG35_HUMAN			3	3826_3830	+			1276			Rho-GAP.		A7E2A4|Q14452|Q9C0E1	Splice_Site	DEL	ENST00000404338.3	37	c.3826_splice	CCDS46127.1																																																																																				0.558	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491	In_Frame_Del	14	9						14	9	---	---	---	---	-	47491249	AGGACT	-	47491244	8	5	22	1	0	1	0	1	0	0	1	0	6804	202	7	0	3835	0	ARHGAP35	19	47491244	Splice_Site	DEL	AGGACT	TCGA-N7-A4Y5-01A-12D-A28R-08	37093242	47491244	11637739	64	2390										
ZNF324B	388569	broad.mit.edu	37	chr19	58965695	58965695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	accctggccaggaacacctaCgggaggctcaactctggtga	12	13	2	1	rs148369158	byFrequency	TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr19:58965695C>T	ENST00000336614.4	+	3	329	c.222C>T	c.(220-222)taC>taT	p.Y74Y	ZNF324B_ENST00000545523.1_Silent_p.Y74Y|ZNF324B_ENST00000391696.1_5'UTR|ZNF324B_ENST00000594214.1_Silent_p.Y74Y	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	74					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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		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)		GGAACACCTACGGGAGGCTCA	0.577													C|||	2	0.000399361	8e-04	0	5008	,	,		21632	0		0.001	False		,,,				2504	0					ENST00000336614.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(220-222)taC>taT		zinc finger protein 324B		C		0,4406		0,0,2203	91	80	83		222	-5.5	0	19	dbSNP_134	83	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ZNF324B	NM_207395.2		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384		74/545	58965695	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58965695C>T	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"Zinc fingers, C2H2-type", "-"	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.222C>T	19.37:g.58965695C>T			Somatic				ZNF324B_ENST00000545523.1_Silent_p.Y74Y|ZNF324B_ENST00000391696.1_5'UTR|ZNF324B_ENST00000594214.1_Silent_p.Y74Y	p.Y74Y	NM_207395.2	NP_997278.2	WXS	Illumina GAIIx	Phase_I	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	329	+		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)	74					B2RTZ6|Q6ZMX8|Q6ZS42	Silent	SNP	ENST00000336614.4	37	c.222C>T	CCDS33138.1																																																																																				0.577	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		18	55	0	0	0	1	0	18	55					T	58965695	C	T	58965695	2	4	22	1	0	0	0	0	0	0	0	1	17860	547	19	1		1	ZNF324B	19	58965695	Silent	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	11474451	58965695	163288	65	2391										
PLCB4	5332	broad.mit.edu	37	chr20	9343593	9343593	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	cacaacttcagggccaacaaCgtcagtccaatgacatgcct	7	14	2	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr20:9343593C>T	ENST00000378493.1	+	5	435	c.420C>T	c.(418-420)aaC>aaT	p.N140N	PLCB4_ENST00000278655.4_Silent_p.N140N|PLCB4_ENST00000414679.2_Silent_p.N140N|PLCB4_ENST00000334005.3_Silent_p.N140N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.N140N|PLCB4_ENST00000378501.2_Silent_p.N140N			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	140					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						GGGCCAACAACGTCAGTCCAA	0.413																																						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.(418-420)aaC>aaT		phospholipase C, beta 4							178	155	163					20																	9343593		2203	4300	6503	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9343593C>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.420C>T	20.37:g.9343593C>T			Somatic				PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Silent_p.N140N|PLCB4_ENST00000378493.1_Silent_p.N140N|PLCB4_ENST00000334005.3_Silent_p.N140N|PLCB4_ENST00000378473.3_Silent_p.N140N|PLCB4_ENST00000278655.4_Silent_p.N140N	p.N140N	NM_000933.3	NP_000924.3	WXS	Illumina GAIIx	Phase_I	Q15147	PLCB4_HUMAN			5	435	+			140					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.420C>T	CCDS13105.1																																																																																				0.413	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			8	7	0	0	0	1	0	8	7					T	9343593	C	T	9343593	2	4	22	1	0	0	0	0	0	0	0	1	12039	535	19	1		1	PLCB4	20	9343593	Silent	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08		9343593	53681927	66	2392										
PYGB	5834	broad.mit.edu	37	chr20	25277119	25277119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	atctggggtgtggagccctcCgacctgcagatcccgccccc	12	17	1	1	rs141315124	byFrequency	TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr20:25277119C>T	ENST00000216962.4	+	20	2603	c.2493C>T	c.(2491-2493)tcC>tcT	p.S831S	ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	831					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						TGGAGCCCTCCGACCTGCAGA	0.612													C|||	2	0.000399361	8e-04	0	5008	,	,		16832	0		0.001	False		,,,				2504	0					ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(2491-2493)tcC>tcT		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)	C	,	4,4402	8.1+/-20.4	0,4,2199	85	69	75		2493,	-9.6	0.2	20	dbSNP_134	75	16,8584	11.9+/-42.8	0,16,4284	no	coding-synonymous,intron	PYGB,ABHD12	NM_002862.3,NM_015600.4	,	0,20,6483	TT,TC,CC		0.186,0.0908,0.1538	,	831/844,	25277119	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25277119C>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.2493C>T	20.37:g.25277119C>T			Somatic				PYGB_ENST00000471359.1_3'UTR|ABHD12_ENST00000376542.3_Intron	p.S831S	NM_002862.3	NP_002853.2	WXS	Illumina GAIIx	Phase_I	P11216	PYGB_HUMAN			20	2603	+			831					Q96AK1|Q9NPX8	Silent	SNP	ENST00000216962.4	37	c.2493C>T	CCDS13171.1																																																																																				0.612	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		39	33	0	0	0	1	0	39	33					T	25277119	C	T	25277119	2	4	22	1	0	0	0	0	0	0	0	1	12875	639	23	1		1	PYGB	20	25277119	Silent	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	15933526	25277119	37748401	67	2393										
DYNLRB1	83658	broad.mit.edu	37	chr20	33122480	33122480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	ccccaccaccacccagtatgCcagcctcatgcacagcttca	5	20	2	0			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr20:33122480C>T	ENST00000357156.2	+	3	178	c.128C>T	c.(127-129)gCc>gTc	p.A43V	DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000374846.3_Missense_Mutation_p.A95V|DYNLRB1_ENST00000417166.2_Missense_Mutation_p.A43V	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	43					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(1)	3						ACCCAGTATGCCAGCCTCATG	0.572																																						ENST00000417166.2																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(127-129)gCc>gTc		dynein, light chain, roadblock-type 1							129	96	107					20																	33122480		2203	4300	6503	SO:0001583	missense	83658				microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity	g.chr20:33122480C>T	AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"Cytoplasmic dyneins"	15468	protein-coding gene	gene with protein product	"roadblock domain containing 1"	607167	"dynein, cytoplasmic, light polypeptide 2A"	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.128C>T	20.37:g.33122480C>T	ENSP00000349679:p.Ala43Val		Somatic				DYNLRB1_ENST00000374846.3_Missense_Mutation_p.A95V|DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000357156.2_Missense_Mutation_p.A43V	p.A43V			WXS	Illumina GAIIx	Phase_I	Q9NP97	DLRB1_HUMAN			3	161	+			43					B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Missense_Mutation	SNP	ENST00000357156.2	37	c.128C>T	CCDS13235.1	.	.	.	.	.	.	.	.	.	.	C	33	5.240464	0.95240	.	.	ENSG00000125971	ENST00000357156;ENST00000417166;ENST00000374846	T;T;T	0.41758	0.99;0.99;0.99	5.06	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.58821	0.2149	.	.	.	0.80722	D	1	D;P	0.60575	0.988;0.933	P;P	0.61722	0.893;0.718	T	0.61652	-0.7019	9	0.48119	T	0.1	-20.9901	13.3753	0.60734	0.0:0.9234:0.0:0.0766	.	43;43	B4DFR2;Q9NP97	.;DLRB1_HUMAN	V	43;43;95	ENSP00000349679:A43V;ENSP00000409090:A43V;ENSP00000363979:A95V	ENSP00000349679:A43V	A	+	2	0	DYNLRB1	32586141	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.638000	0.83328	1.371000	0.46172	0.655000	0.94253	GCC		0.572	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078791.1	NM_014183		4	119	0	0	0	1	0	4	119					T	33122480	C	T	33122480	3	4	22	1	0	0	0	0	1	0	0	0	4852	739	26	3	138	3	DYNLRB1	20	33122480	Missense_Mutation	SNP	C	TCGA-N7-A4Y5-01A-12D-A28R-08	7845361	33122480	29903040	68	2394										
DSCR6	53820	broad.mit.edu	37	chr21	38390374	38390374	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.101449275362319	7	1	1.26621756487026	1.73652694610778	1.05244057339866	1	1	0	gggaggtcggcaggaaaatgGcccagggggaaagggcagag	21	6	0	1			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr21:38390374G>C	ENST00000329553.2	+	4	650	c.440G>C	c.(439-441)gGc>gCc	p.G147A	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	147					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											CAGGAAAATGGCCCAGGGGGA	0.632																																						ENST00000329553.2																			0											c.(439-441)gGc>gCc		ripply transcriptional repressor 3							42	41	42					21																	38390374		2203	4300	6503	SO:0001583	missense	53820							g.chr21:38390374G>C	AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"Down syndrome critical region gene 6", "ripply3 homolog (zebrafish)"	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.440G>C	21.37:g.38390374G>C	ENSP00000331734:p.Gly147Ala		Somatic				RIPPLY3_ENST00000485272.1_3'UTR	p.G147A	NM_018962.2	NP_061835.1	WXS	Illumina GAIIx	Phase_I					4	650	+									Missense_Mutation	SNP	ENST00000329553.2	37	c.440G>C	CCDS13648.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236341	0.22626	.	.	ENSG00000183145	ENST00000329553	.	.	.	4.56	1.74	0.24563	.	2.253090	0.01732	N	0.028916	T	0.29223	0.0727	N	0.24115	0.695	0.09310	N	1	B	0.25904	0.137	B	0.23419	0.046	T	0.15065	-1.0450	9	0.16420	T	0.52	-1.0593	6.189	0.20513	0.3102:0.0:0.6898:0.0	.	147	P57055	DSCR6_HUMAN	A	147	.	ENSP00000331734:G147A	G	+	2	0	DSCR6	37312244	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.332000	0.19751	0.650000	0.30769	-0.316000	0.08728	GGC		0.632	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1			16	17	0	0	0	1	0	16	17					C	38390374	G	C	38390374	3	2	22	1	0	0	0	0	1	0	0	0	4775	1203	42	5	454	5	DSCR6	21	38390374	Missense_Mutation	SNP	G	TCGA-N7-A4Y5-01A-12D-A28R-08		38390374	9739521	69	2395										
DVL1	1855	broad.mit.edu	37	chr1	1273765	1273765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	cgtacttccgggcctcccgcCgctccttgaagccctccacg	9	20	0	1			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:1273765C>T	ENST00000378888.5	-	13	1675	c.1391G>A	c.(1390-1392)cGg>cAg	p.R464Q	DVL1_ENST00000378891.5_Missense_Mutation_p.R439Q			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	464	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCCTCCCGCCGCTCCTTGAA	0.657																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(1390-1392)cGg>cAg		dishevelled segment polarity protein 1							38	37	37					1																	1273765		2202	4294	6496	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1273765C>T	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1391G>A	1.37:g.1273765C>T	ENSP00000368166:p.Arg464Gln		Somatic				DVL1_ENST00000378891.5_Missense_Mutation_p.R439Q	p.R464Q			WXS	Illumina GAIIx	Phase_I	O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	13	1675	-	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)	464			DEP.		Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.1391G>A		.	.	.	.	.	.	.	.	.	.	C	20.4	3.986210	0.74589	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000263743	T;T	0.41065	1.01;1.01	3.48	3.48	0.39840	DEP domain (6);Winged helix-turn-helix transcription repressor DNA-binding (2);	0.125321	0.47093	D	0.000247	T	0.71048	0.3294	M	0.92507	3.315	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.73380	0.966;0.942;0.98;0.977	T	0.81147	-0.1065	10	0.87932	D	0	.	15.5841	0.76468	0.0:1.0:0.0:0.0	.	122;464;439;439	G3XA93;O14640;P54792;O14640-2	.;DVL1_HUMAN;DVL1L_HUMAN;.	Q	439;464;122	ENSP00000368169:R439Q;ENSP00000368166:R464Q	ENSP00000263743:R122Q	R	-	2	0	DVL1	1263628	1.000000	0.71417	0.718000	0.30602	0.858000	0.48976	7.494000	0.81503	1.962000	0.57031	0.449000	0.29647	CGG		0.657	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		20	41	0	0	0	1	0	20	41					T	1273765	C	T	1273765	3	4	23	1	0	0	0	0	1	0	0	0	4837	652	23	1	708	1	DVL1	1	1273765	Missense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08		1273765	247976856	1	2396										
SRM	6723	broad.mit.edu	37	chr1	11115122	11115122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	gctgtgtcagcggctgcaccGgctcctggaagttcgtgctc	14	13	1	0			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:11115122G>A	ENST00000376957.2	-	7	865	c.785C>T	c.(784-786)cCg>cTg	p.P262L		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	262					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CGGCTGCACCGGCTCCTGGAA	0.602																																						ENST00000376957.2																			0				large_intestine(1)|lung(1)|urinary_tract(1)	3						c.(784-786)cCg>cTg		spermidine synthase	S-Adenosylmethionine(DB00118)|Spermine(DB00127)						33	37	35					1																	11115122		2203	4298	6501	SO:0001583	missense	6723				spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity	g.chr1:11115122G>A	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.785C>T	1.37:g.11115122G>A	ENSP00000366156:p.Pro262Leu		Somatic					p.P262L	NM_003132.2	NP_003123.2	WXS	Illumina GAIIx	Phase_I	P19623	SPEE_HUMAN	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	7	865	-	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)	262					B1AKP9|Q15511	Missense_Mutation	SNP	ENST00000376957.2	37	c.785C>T	CCDS125.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897562	0.72639	.	.	ENSG00000116649	ENST00000376957	T	0.74737	-0.87	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.89656	0.6778	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92093	0.5682	10	0.87932	D	0	.	17.9035	0.88912	0.0:0.0:1.0:0.0	.	262	P19623	SPEE_HUMAN	L	262	ENSP00000366156:P262L	ENSP00000366156:P262L	P	-	2	0	SRM	11037709	1.000000	0.71417	0.947000	0.38551	0.254000	0.26022	7.294000	0.78760	2.461000	0.83175	0.561000	0.74099	CCG		0.602	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132		30	62	0	0	0	1	0	30	62					A	11115122	G	A	11115122	3	1	23	1	0	0	0	0	1	0	0	0	15166	1116	39	1	131	1	SRM	1	11115122	Missense_Mutation	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08	9841357	11115122	238135499	2	2397										
SRRM1	10250	broad.mit.edu	37	chr1	24998725	24998725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	tgatttagaaaagcacctgcGtgaaaaggccctgagatcaa	10	8	1	4			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:24998725G>A	ENST00000323848.9	+	17	2978	c.2663G>A	c.(2662-2664)cGt>cAt	p.R888H	SRRM1_ENST00000374389.4_Missense_Mutation_p.R897H|SRRM1_ENST00000447431.2_Missense_Mutation_p.R900H	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	888					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AAGCACCTGCGTGAAAAGGCC	0.413																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(2662-2664)cGt>cAt		serine/arginine repetitive matrix 1							49	49	49					1																	24998725		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24998725G>A	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2663G>A	1.37:g.24998725G>A	ENSP00000326261:p.Arg888His		Somatic				SRRM1_ENST00000374389.4_Missense_Mutation_p.R897H|SRRM1_ENST00000447431.2_Missense_Mutation_p.R900H	p.R888H	NM_005839.3	NP_005830.2	WXS	Illumina GAIIx	Phase_I	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	17	2978	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	888					O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.2663G>A	CCDS255.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820174	0.71028	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.69926	-0.41;-0.41;-0.44	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000013	T	0.78310	0.4263	L	0.42245	1.32	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.98	T	0.79105	-0.1940	10	0.87932	D	0	.	19.9617	0.97254	0.0:0.0:1.0:0.0	.	900;888	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	H	888;900;897	ENSP00000326261:R888H;ENSP00000391430:R900H;ENSP00000363510:R897H	ENSP00000326261:R888H	R	+	2	0	SRRM1	24871312	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.651000	0.83577	2.722000	0.93159	0.650000	0.86243	CGT		0.413	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		14	12	0	0	0	1	0	14	12					A	24998725	G	A	24998725	3	1	23	1	0	0	0	0	1	0	0	0	15183	1145	40	1	2729	1	SRRM1	1	24998725	Missense_Mutation	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08	13883603	24998725	224251896	3	2398										
PTPRF	5792	broad.mit.edu	37	chr1	44057543	44057543	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	ggacaccaggatccagctctCgtggctgctgccccctcagg	12	16	2	0	rs200072533		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:44057543C>A	ENST00000359947.4	+	10	1932	c.1592C>A	c.(1591-1593)tCg>tAg	p.S531*	PTPRF_ENST00000372414.3_Nonsense_Mutation_p.S531*|PTPRF_ENST00000438120.1_Nonsense_Mutation_p.S531*|PTPRF_ENST00000422171.2_De_novo_Start_OutOfFrame|PTPRF_ENST00000372413.3_Nonsense_Mutation_p.S531*	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	531	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCCAGCTCTCGTGGCTGCTG	0.632																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(1591-1593)tCg>tAg		protein tyrosine phosphatase, receptor type, F							39	35	36					1																	44057543		2203	4300	6503	SO:0001587	stop_gained	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44057543C>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1592C>A	1.37:g.44057543C>A	ENSP00000353030:p.Ser531*		Somatic				PTPRF_ENST00000438120.1_Nonsense_Mutation_p.S531*|PTPRF_ENST00000372413.3_Nonsense_Mutation_p.S531*|PTPRF_ENST00000372414.3_Nonsense_Mutation_p.S531*|PTPRF_ENST00000422171.2_De_novo_Start_OutOfFrame	p.S531*	NM_002840.3	NP_002831.2	WXS	Illumina GAIIx	Phase_I	P10586	PTPRF_HUMAN			10	1932	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	531			Fibronectin type-III 3.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Nonsense_Mutation	SNP	ENST00000359947.4	37	c.1592C>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.819626|5.819626	0.96982|0.96982	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413	.|.	.|.	.|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	.|0.000000	.|0.30060	.|N	.|0.010506	T|.	0.47135|.	0.1429|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34403|.	-0.9830|.	4|.	.|0.02654	.|T	.|1	.|.	19.0931|19.0931	0.93235|0.93235	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	S|X	188|531	.|.	.|ENSP00000353030:S531X	R|S	+|+	1|2	0|0	PTPRF|PTPRF	43830130|43830130	1.000000|1.000000	0.71417|0.71417	0.819000|0.819000	0.32651|0.32651	0.965000|0.965000	0.64279|0.64279	7.781000|7.781000	0.85668|0.85668	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	CGT|TCG		0.632	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			36	37	1	0	3.33393e-15	1	3.70437e-15	36	37					A	44057543	C	A	44057543	4	1	23	1	0	0	0	0	0	1	0	0	12816	893	31	2	1622	2	PTPRF	1	44057543	Nonsense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08	19058818	44057543	205193078	4	2399										
NRD1	4898	broad.mit.edu	37	chr1	52272573	52272573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	ggcaatcgaaagccttcaacGtaaagtccgtggctaataaa	9	9	1	0			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:52272573G>A	ENST00000354831.7	-	20	2396	c.2207C>T	c.(2206-2208)aCg>aTg	p.T736M	NRD1_ENST00000544028.1_Missense_Mutation_p.T536M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.T604M|NRD1_ENST00000352171.7_Missense_Mutation_p.T668M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	667					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						AGCCTTCAACGTAAAGTCCGT	0.373																																						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.(2206-2208)aCg>aTg		nardilysin (N-arginine dibasic convertase)							111	111	111					1																	52272573		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.chr1:52272573G>A	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.2207C>T	1.37:g.52272573G>A	ENSP00000346890:p.Thr736Met		Somatic				NRD1_ENST00000352171.7_Missense_Mutation_p.T668M|NRD1_ENST00000539524.1_Missense_Mutation_p.T604M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.T536M	p.T736M	NM_002525.2	NP_002516.2	WXS	Illumina GAIIx	Phase_I	O43847	NRDC_HUMAN			20	2396	-			667					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.2207C>T	CCDS559.1	.	.	.	.	.	.	.	.	.	.	G	6.518	0.463744	0.12402	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.1	2.01	0.26516	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.222182	0.47093	N	0.000260	T	0.24122	0.0584	M	0.74647	2.275	0.44702	D	0.997694	P;B;B	0.35780	0.52;0.198;0.198	B;B;B	0.26614	0.071;0.032;0.032	T	0.03795	-1.1003	10	0.41790	T	0.15	-0.2231	10.2689	0.43470	0.2059:0.0:0.7941:0.0	.	668;667;736	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	M	668;736;604;668;536	ENSP00000262679:T668M;ENSP00000346890:T736M;ENSP00000444416:T604M;ENSP00000442262:T536M	ENSP00000262679:T668M	T	-	2	0	NRD1	52045161	0.991000	0.36638	0.275000	0.24674	0.087000	0.18053	3.724000	0.54962	0.106000	0.17784	-0.237000	0.12165	ACG		0.373	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		20	67	0	0	0	1	0	20	67					A	52272573	G	A	52272573	3	1	23	1	0	0	0	0	1	0	0	0	10654	1145	40	1	1508	1	NRD1	1	52272573	Missense_Mutation	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08	8215030	52272573	196978048	5	2400										
PDE4DIP	9659	broad.mit.edu	37	chr1	144931280	144931280	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	tcctggatctgatcctcattCtccacccagcactcaaaccc	4	18	4	1			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:144931280C>T	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313431.9_Silent_p.E143E|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000529945.1_Silent_p.E143E			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)		GATCCTCATTCTCCACCCAGC	0.582			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.(427-429)gaG>gaA		phosphodiesterase 4D interacting protein							144	142	142					1																	144931280		2203	4300	6503	SO:0001627	intron_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144931280C>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.637-7459G>A	1.37:g.144931280C>T			Somatic				PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Silent_p.E143E	p.E143E			WXS	Illumina GAIIx	Phase_I	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	868	-			0		K -> E (in dbSNP:rs1747958).			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.429G>A	CCDS30824.1																																																																																				0.582	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		67	209	0	0	0	1	0	67	209					T	144931280	C	T	144931280	1	4	23	0	1	0	0	0	0	0	0	0	11652	912	32	3		3	PDE4DIP	1	144931280	Intron	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08	92658707	144931280	104319341	6	2401										
LRRN2	10446	broad.mit.edu	37	chr1	204588977	204588977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	cagtccacagtggtagcctcGcggtaggacgagcggggcgt	17	11	0	0			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:204588977G>A	ENST00000367175.1	-	1	2356	c.144C>T	c.(142-144)cgC>cgT	p.R48R	LRRN2_ENST00000367177.3_Silent_p.R48R|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Silent_p.R48R			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	48	LRRNT.				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)			TGGTAGCCTCGCGGTAGGACG	0.657																																						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.(142-144)cgC>cgT		leucine rich repeat neuronal 2							40	39	40					1																	204588977		2203	4300	6503	SO:0001819	synonymous_variant	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204588977G>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.144C>T	1.37:g.204588977G>A			Somatic				LRRN2_ENST00000367177.3_Silent_p.R48R|LRRN2_ENST00000367176.3_Silent_p.R48R	p.R48R			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	2356	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		48			LRRNT.		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	ENST00000367175.1	37	c.144C>T	CCDS1448.1																																																																																				0.657	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		23	77	0	0	0	1	0	23	77					A	204588977	G	A	204588977	2	1	23	1	0	0	0	0	0	0	0	1	9044	1074	38	1		1	LRRN2	1	204588977	Silent	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08	59657697	204588977	44661644	7	2402										
ACTA1	58	broad.mit.edu	37	chr1	229568733	229568733	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	tctgcggaggggcagcctgaCctggtgtcgggggcggccca	19	12	1	1			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:229568733C>A	ENST00000366684.3	-	2	232		c.e2+1		ACTA1_ENST00000366683.2_Splice_Site	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle						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)				GGCAGCCTGACCTGGTGTCGG	0.721																																						ENST00000366684.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28						c.e2+1		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						18	22	21					1																	229568733		2196	4293	6489	SO:0001630	splice_region_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.chr1:229568733C>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.129+1G>T	1.37:g.229568733C>A			Somatic				ACTA1_ENST00000366683.2_Splice_Site		NM_001100.3	NP_001091.1	WXS	Illumina GAIIx	Phase_I	P68133	ACTS_HUMAN			2	232	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)						P02568|P99020|Q5T8M9	Splice_Site	SNP	ENST00000366684.3	37		CCDS1578.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328950	0.60743	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3928	0.83545	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACTA1	227635356	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	7.292000	0.78731	2.395000	0.81488	0.655000	0.94253	.		0.721	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100	Intron	20	61	1	0	8.10497e-08	1	8.78852e-08	20	61					A	229568733	C	A	229568733	5	1	23	1	0	0	0	0	0	0	1	0	191	521	18	5	1027	5	ACTA1	1	229568733	Splice_Site	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08	24979756	229568733	19681888	8	2403										
CHRM3	1131	broad.mit.edu	37	chr1	240070975	240070975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	ggtcttcatcgctttcttaaCgggcatcctggccttggtga	11	11	3	1			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:240070975C>T	ENST00000255380.4	+	5	1003	c.224C>T	c.(223-225)aCg>aTg	p.T75M		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	75					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)	GCTTTCTTAACGGGCATCCTG	0.507																																						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.(223-225)aCg>aTg		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)						142	121	128					1																	240070975		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.chr1:240070975C>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.224C>T	1.37:g.240070975C>T	ENSP00000255380:p.Thr75Met		Somatic					p.T75M	NM_000740.2	NP_000731.1	WXS	Illumina GAIIx	Phase_I	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1003	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	75					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.224C>T	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447152	0.63178	.	.	ENSG00000133019	ENST00000255380;ENST00000448020	T;T	0.36520	2.07;1.25	5.6	5.6	0.85130	.	0.162045	0.53938	D	0.000056	T	0.56455	0.1986	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.56703	-0.7935	10	0.87932	D	0	-16.7682	15.4634	0.75377	0.0:0.862:0.138:0.0	.	75	P20309	ACM3_HUMAN	M	75	ENSP00000255380:T75M;ENSP00000404764:T75M	ENSP00000255380:T75M	T	+	2	0	CHRM3	238137598	1.000000	0.71417	0.136000	0.22124	0.992000	0.81027	5.966000	0.70395	2.788000	0.95919	0.650000	0.86243	ACG		0.507	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		23	71	0	0	0	1	0	23	71					T	240070975	C	T	240070975	3	4	23	1	0	0	0	0	1	0	0	0	3380	536	19	1	226	1	CHRM3	1	240070975	Missense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08	10502242	240070975	9179646	9	2404										
CCDC104	112942	broad.mit.edu	37	chr2	55771473	55771473	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	ctaaacagatacaaaatatgGagcagaaaggaaaacccact	7	8	0	2			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr2:55771473G>C	ENST00000349456.4	+	9	1043	c.895G>C	c.(895-897)Gag>Cag	p.E299Q	CCDC104_ENST00000407816.3_Missense_Mutation_p.E270Q|CCDC104_ENST00000339012.3_Missense_Mutation_p.E324Q			Q96G28	CFA36_HUMAN		299										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACAAAATATGGAGCAGAAAGG	0.398																																						ENST00000349456.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14						c.(895-897)Gag>Cag		coiled-coil domain containing 104							75	75	75					2																	55771473		2203	4300	6503	SO:0001583	missense	112942							g.chr2:55771473G>C																												ENST00000349456.4:c.895G>C	2.37:g.55771473G>C	ENSP00000295117:p.Glu299Gln		Somatic				CCDC104_ENST00000407816.3_Missense_Mutation_p.E270Q|CCDC104_ENST00000339012.3_Missense_Mutation_p.E324Q	p.E299Q			WXS	Illumina GAIIx	Phase_I	Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		9	1043	+			299					Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	c.895G>C	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095947	0.56075	.	.	ENSG00000163001	ENST00000339012;ENST00000349456;ENST00000407816	T;T;T	0.18960	2.18;2.2;2.19	5.69	5.69	0.88448	.	0.108661	0.64402	D	0.000014	T	0.43986	0.1272	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.946;0.982	T	0.05517	-1.0880	10	0.35671	T	0.21	.	18.5943	0.91225	0.0:0.0:1.0:0.0	.	299;324	Q96G28;Q96G28-2	CC104_HUMAN;.	Q	324;299;270	ENSP00000342699:E324Q;ENSP00000295117:E299Q;ENSP00000385376:E270Q	ENSP00000342699:E324Q	E	+	1	0	CCDC104	55624977	1.000000	0.71417	0.859000	0.33776	0.662000	0.39071	6.309000	0.72825	2.668000	0.90789	0.650000	0.86243	GAG		0.398	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			35	47	0	0	0	1	0	35	47					C	55771473	G	C	55771473	3	2	23	1	0	0	0	0	1	0	0	0	2741	1175	41	2	929	2	CCDC104	2	55771473	Missense_Mutation	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08		55771473	187427900	10	2405										
IL1R2	7850	broad.mit.edu	37	chr2	102632493	102632493	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	tcacccgtgacaaaactgacGtgaagattcaatggtacaag	9	9	2	4	rs529315850		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr2:102632493G>C	ENST00000332549.3	+	4	722	c.493G>C	c.(493-495)Gtg>Ctg	p.V165L	IL1R2_ENST00000393414.2_Missense_Mutation_p.V165L|IL1R2_ENST00000441002.1_Missense_Mutation_p.V165L	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	165	Ig-like C2-type 2.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						CAAAACTGACGTGAAGATTCA	0.373																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(493-495)Gtg>Ctg		interleukin 1 receptor, type II	Anakinra(DB00026)						62	59	60					2																	102632493		2203	4300	6503	SO:0001583	missense	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102632493G>C	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.493G>C	2.37:g.102632493G>C	ENSP00000330959:p.Val165Leu		Somatic				IL1R2_ENST00000441002.1_Missense_Mutation_p.V165L|IL1R2_ENST00000393414.2_Missense_Mutation_p.V165L	p.V165L	NM_004633.3	NP_004624.1	WXS	Illumina GAIIx	Phase_I	P27930	IL1R2_HUMAN			4	722	+			165			Ig-like C2-type 2.		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	c.493G>C	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	G	8.692	0.907653	0.17833	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.53	-11.1	0.00147	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.398540	0.04271	N	0.342070	T	0.49643	0.1569	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35276	-0.9795	10	0.10902	T	0.67	.	2.4708	0.04564	0.2547:0.3935:0.1081:0.2437	.	165	P27930	IL1R2_HUMAN	L	165	ENSP00000330959:V165L;ENSP00000377066:V165L;ENSP00000408415:V165L;ENSP00000414611:V165L	ENSP00000330959:V165L	V	+	1	0	IL1R2	101998925	0.000000	0.05858	0.000000	0.03702	0.983000	0.72400	-2.840000	0.00738	-2.238000	0.00712	-0.165000	0.13383	GTG		0.373	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		11	40	0	0	0	1	0	11	40					C	102632493	G	C	102632493	3	2	23	1	0	0	0	0	1	0	0	0	7668	1145	40	5	503	5	IL1R2	2	102632493	Missense_Mutation	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08	46861020	102632493	140566880	11	2406										
GCC2	9648	broad.mit.edu	37	chr2	109104168	109104168	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	gttataggcagaacaagctaCtgtaacctctgaattcgaga	9	8	1	3			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr2:109104168C>A	ENST00000309863.6	+	17	4658	c.3944C>A	c.(3943-3945)aCt>aAt	p.T1315N		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1315					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						GAACAAGCTACTGTAACCTCT	0.348																																						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.(3943-3945)aCt>aAt		GRIP and coiled-coil domain containing 2							87	94	92					2																	109104168		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.chr2:109104168C>A	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.3944C>A	2.37:g.109104168C>A	ENSP00000307939:p.Thr1315Asn		Somatic					p.T1315N	NM_181453.3	NP_852118.1	WXS	Illumina GAIIx	Phase_I	Q8IWJ2	GCC2_HUMAN			17	4658	+			1315					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.3944C>A	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456263	0.43634	.	.	ENSG00000135968	ENST00000309863	T	0.29917	1.55	5.91	5.91	0.95273	.	0.298850	0.36778	N	0.002408	T	0.24509	0.0594	N	0.19112	0.55	0.09310	N	0.999994	B	0.14438	0.01	B	0.09377	0.004	T	0.09058	-1.0692	10	0.28530	T	0.3	.	20.2956	0.98549	0.0:1.0:0.0:0.0	.	1315	Q8IWJ2	GCC2_HUMAN	N	1315	ENSP00000307939:T1315N	ENSP00000307939:T1315N	T	+	2	0	GCC2	108470600	0.982000	0.34865	0.672000	0.29872	0.656000	0.38851	6.051000	0.71072	2.805000	0.96524	0.460000	0.39030	ACT		0.348	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		5	127	1	0	0.000602214	1	0.000615901	5	127					A	109104168	C	A	109104168	3	1	23	1	0	0	0	0	1	0	0	0	6294	565	20	5	4010	5	GCC2	2	109104168	Missense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08	6471675	109104168	134095205	12	2407										
LAMB2	3913	broad.mit.edu	37	chr3	49167320	49167320	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	gagcccaaagaagccatcacGgcattgctggcagcgagtgc	13	12	1	1			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:49167320G>C	ENST00000418109.1	-	11	1521	c.1357C>G	c.(1357-1359)Cgt>Ggt	p.R453G	LAMB2_ENST00000305544.4_Missense_Mutation_p.R453G	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	453	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AAGCCATCACGGCATTGCTGG	0.582																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(1357-1359)Cgt>Ggt		laminin, beta 2 (laminin S)							152	140	144					3																	49167320		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49167320G>C		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1357C>G	3.37:g.49167320G>C	ENSP00000388325:p.Arg453Gly		Somatic				LAMB2_ENST00000305544.4_Missense_Mutation_p.R453G	p.R453G	NM_002292.3	NP_002283.3	WXS	Illumina GAIIx	Phase_I	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	11	1521	-			453			Laminin EGF-like 3.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.1357C>G	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828135	0.71143	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.61980	0.06;0.06	5.56	4.61	0.57282	EGF-like, laminin (4);	0.185133	0.45361	D	0.000365	T	0.68787	0.3039	M	0.70842	2.15	0.35469	D	0.797214	P	0.46064	0.872	P	0.48488	0.579	T	0.79063	-0.1957	10	0.56958	D	0.05	.	15.0543	0.71901	0.0:0.0:0.7769:0.2231	.	453	P55268	LAMB2_HUMAN	G	453	ENSP00000388325:R453G;ENSP00000307156:R453G	ENSP00000307156:R453G	R	-	1	0	LAMB2	49142324	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	1.741000	0.38238	2.601000	0.87937	0.655000	0.94253	CGT		0.582	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		5	165	0	0	0	1	0	5	165					C	49167320	G	C	49167320	3	2	23	1	0	0	0	0	1	0	0	0	8620	1116	39	5	4131	5	LAMB2	3	49167320	Missense_Mutation	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08		49167320	148855110	13	2408										
BSN	8927	broad.mit.edu	37	chr3	49694637	49694637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	aggagcagtgggaggccagcCgtagtggcatcaagaagcgg	18	8	1	1	rs150764510		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:49694637C>T	ENST00000296452.4	+	5	7762	c.7648C>T	c.(7648-7650)Cgt>Tgt	p.R2550C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2550					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)		GGAGGCCAGCCGTAGTGGCAT	0.627													C|||	1	0.000199681	0	0	5008	,	,		20919	0		0.001	False		,,,				2504	0					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.(7648-7650)Cgt>Tgt		bassoon presynaptic cytomatrix protein							49	46	47					3																	49694637		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49694637C>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.7648C>T	3.37:g.49694637C>T	ENSP00000296452:p.Arg2550Cys		Somatic					p.R2550C	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	7762	+			2550					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.7648C>T	CCDS2800.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	5.229	0.227797	0.09916	.	.	ENSG00000164061	ENST00000296452	T	0.21361	2.01	5.58	4.63	0.57726	.	0.105189	0.64402	D	0.000011	T	0.36524	0.0970	L	0.53249	1.67	0.44123	D	0.9969	D	0.89917	1.0	P	0.59221	0.854	T	0.07009	-1.0795	10	0.66056	D	0.02	-16.962	14.3823	0.66919	0.2284:0.7716:0.0:0.0	.	2550	Q9UPA5	BSN_HUMAN	C	2550	ENSP00000296452:R2550C	ENSP00000296452:R2550C	R	+	1	0	BSN	49669641	0.141000	0.22595	0.983000	0.44433	0.662000	0.39071	0.672000	0.25187	2.640000	0.89533	0.561000	0.74099	CGT		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		23	30	0	0	0	1	0	23	30					T	49694637	C	T	49694637	3	4	23	1	0	0	0	0	1	0	0	0	1532	652	23	1	7666	1	BSN	3	49694637	Missense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08	527317	49694637	148327793	14	2409										
OR5K1	26339	broad.mit.edu	37	chr3	98189040	98189041	+	Frame_Shift_Del	DEL	AA	AA	-													0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	catcttctcaggttcagttcAagtctttaccataggtagtg							TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:98189040_98189041delAA	ENST00000332650.5	+	1	717_718	c.620_621delAA	c.(619-621)caafs	p.Q207fs		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	207						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(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTTCAGTTCAAGTCTTTACCA	0.342																																						ENST00000332650.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(619-621)cfs		olfactory receptor, family 5, subfamily K, member 1																																				SO:0001589	frameshift_variant	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98189040_98189041delAA	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"GPCR / Class A : Olfactory receptors"	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.620_621delAA	3.37:g.98189040_98189041delAA	ENSP00000373193:p.Gln207fs		Somatic					p.Q207fs	NM_001004736.2	NP_001004736.2	WXS	Illumina GAIIx	Phase_I	Q8NHB7	OR5K1_HUMAN			1	717_718	+			207					B9EGY5|Q6IF46	Frame_Shift_Del	DEL	ENST00000332650.5	37	c.620_621delAA	CCDS43115.1																																																																																				0.342	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			46	70						46	70	---	---	---	---	-	98189041	AA	-	98189040	7	5	23	1	0	1	0	1	0	0	0	0	11175	130	5	0	622	0	OR5K1	3	98189040	Frame_Shift_Del	DEL	AA	TCGA-N7-A4Y8-01A-11D-A28R-08	48494403	98189040	99833390	15	2410										
TRPC1	7220	broad.mit.edu	37	chr3	142443429	142443429	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	cggccctgtacccgagcacgGacctctcgggcgcctcctcc	11	20	1	0			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:142443429G>T	ENST00000476941.1	+	1	514	c.28G>T	c.(28-30)Gac>Tac	p.D10Y	TRPC1_ENST00000273482.6_Missense_Mutation_p.D10Y	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	10					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CCCGAGCACGGACCTCTCGGG	0.716																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(28-30)Gac>Tac		transient receptor potential cation channel, subfamily C, member 1							40	38	38					3																	142443429		2200	4298	6498	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142443429G>T	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.28G>T	3.37:g.142443429G>T	ENSP00000419313:p.Asp10Tyr		Somatic				TRPC1_ENST00000476941.1_Missense_Mutation_p.D10Y	p.D10Y	NM_003304.4	NP_003295.1	WXS	Illumina GAIIx	Phase_I	P48995	TRPC1_HUMAN			1	419	+			10					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.28G>T	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259029	0.80246	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.79653	-0.95;-1.29	4.17	3.27	0.37495	.	16.793400	0.00166	N	0.000000	T	0.79828	0.4513	N	0.08118	0	0.80722	D	1	D;D	0.55172	0.97;0.969	P;P	0.57548	0.67;0.823	T	0.66968	-0.5789	10	0.72032	D	0.01	0.0115	11.7461	0.51821	0.0:0.0:0.823:0.177	.	10;10	P48995;P48995-2	TRPC1_HUMAN;.	Y	10	ENSP00000419313:D10Y;ENSP00000273482:D10Y	ENSP00000273482:D10Y	D	+	1	0	TRPC1	143926119	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	6.058000	0.71126	0.841000	0.35020	0.430000	0.28490	GAC		0.716	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		9	21	1	0	0.0477658	1	0.0477658	9	21					T	142443429	G	T	142443429	3	4	23	1	0	0	0	0	1	0	0	0	16593	1174	41	2	30	2	TRPC1	3	142443429	Missense_Mutation	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08	44254389	142443429	55579001	16	2411										
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	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	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			13	36	0	0	0	1	0	13	36					A	178936091	G	A	178936091	3	1	23	1	0	0	0	0	1	0	0	0	11922	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08	36492662	178936091	19086339	17	2412										
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.H1047R	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	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			10	77	0	0	0	1	0	10	77					G	178952085	A	G	178952085	3	3	23	1	0	0	0	0	1	0	0	0	11922	217	8	4	3218	4	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-N7-A4Y8-01A-11D-A28R-08	15994	178952085	19070345	18	2413										
ZNF518B	85460	broad.mit.edu	37	chr4	10445064	10445064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	acattgcctttgtatttattTattaccttcatcacattggt	4	8	2	0			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:10445064T>C	ENST00000326756.3	-	3	3327	c.2889A>G	c.(2887-2889)atA>atG	p.I963M		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	963					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						TGTATTTATTTATTACCTTCA	0.458																																						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.(2887-2889)atA>atG		zinc finger protein 518B							100	98	99					4																	10445064		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445064T>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.2889A>G	4.37:g.10445064T>C	ENSP00000317614:p.Ile963Met		Somatic					p.I963M	NM_053042.2	NP_444270.2	WXS	Illumina GAIIx	Phase_I	Q9C0D4	Z518B_HUMAN			3	3327	-			963					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2889A>G	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624444	0.66901	.	.	ENSG00000178163	ENST00000326756	T	0.03065	4.06	6.16	0.0422	0.14216	.	0.114878	0.56097	D	0.000021	T	0.15739	0.0379	L	0.57536	1.79	0.28282	N	0.923941	D	0.76494	0.999	D	0.71184	0.972	T	0.31024	-0.9958	10	0.87932	D	0	-24.8403	22.8508	0.99977	0.0:0.0:0.865:0.135	.	963	Q9C0D4	Z518B_HUMAN	M	963	ENSP00000317614:I963M	ENSP00000317614:I963M	I	-	3	3	ZNF518B	10054162	0.291000	0.24352	0.983000	0.44433	0.992000	0.81027	-0.546000	0.06062	-0.023000	0.13963	0.528000	0.53228	ATA		0.458	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		4	77	0	0	0	1	0	4	77					C	10445064	T	C	10445064	3	2	23	1	0	0	0	0	1	0	0	0	17978	1744	61	4	339	4	ZNF518B	4	10445064	Missense_Mutation	SNP	T	TCGA-N7-A4Y8-01A-11D-A28R-08		10445064	180709212	19	2414										
LPHN3	23284	broad.mit.edu	37	chr4	62845387	62845387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	cttcacattttgctttttccGggggctccagagtgaccgta	10	11	1	2			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:62845387G>A	ENST00000514591.1	+	17	3037	c.2708G>A	c.(2707-2709)cGg>cAg	p.R903Q	LPHN3_ENST00000504896.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000512091.2_Missense_Mutation_p.R903Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R903Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	890					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						TGCTTTTTCCGGGGGCTCCAG	0.493																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2707-2709)cGg>cAg		latrophilin 3							227	228	227					4																	62845387		2036	4209	6245	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62845387G>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.2708G>A	4.37:g.62845387G>A	ENSP00000422533:p.Arg903Gln		Somatic				LPHN3_ENST00000514157.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R903Q	p.R903Q			WXS	Illumina GAIIx	Phase_I	Q9HAR2	LPHN3_HUMAN			17	3455	+			890					E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2708G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	35	5.502636	0.96371	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.5	5.5	0.81552	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.77552	0.4147	M	0.87827	2.91	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.99	T	0.81441	-0.0931	10	0.87932	D	0	.	19.0068	0.92854	0.0:0.0:1.0:0.0	.	903;890;903	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	Q	903;903;971;971;903;903;890;903;971;971;971;903;903;903;971;971;903	ENSP00000423388:R903Q;ENSP00000422533:R903Q;ENSP00000423787:R971Q;ENSP00000425033:R971Q;ENSP00000424120:R903Q;ENSP00000439831:R903Q;ENSP00000421476:R971Q;ENSP00000424030:R971Q;ENSP00000421372:R971Q;ENSP00000425201:R903Q;ENSP00000423434:R903Q;ENSP00000421627:R903Q;ENSP00000420931:R971Q;ENSP00000425884:R971Q;ENSP00000424258:R903Q	ENSP00000280009:R903Q	R	+	2	0	LPHN3	62527982	1.000000	0.71417	0.982000	0.44146	0.985000	0.73830	7.956000	0.87863	2.580000	0.87095	0.467000	0.42956	CGG		0.493	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			76	75	0	0	0	1	0	76	75					A	62845387	G	A	62845387	3	1	23	1	0	0	0	0	1	0	0	0	8926	1116	39	1	2766	1	LPHN3	4	62845387	Missense_Mutation	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08	52400323	62845387	128308889	20	2415										
FBXW7	55294	broad.mit.edu	37	chr4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	ttcatgaagatgcatacaacGcacagtggaagtatgcccat	9	9	1	2			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		99	Substitution - Missense(98)|Unknown(1)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(41)|large_intestine(27)|endometrium(20)|stomach(6)|biliary_tract(4)|pancreas(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1393-1395)Cgt>Tgt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							260	223	235					4																	153249385		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249385G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1393C>T	4.37:g.153249385G>A	ENSP00000281708:p.Arg465Cys		Somatic				FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C	p.R465C	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			9	2622	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	465		R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1393C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909959	0.92107	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.05	6.05	0.98169	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	0.67287	0.2877	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.67130	-0.5748	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:0.0:1.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	465;347;385;289	ENSP00000281708:R465C;ENSP00000296555:R347C;ENSP00000263981:R385C;ENSP00000377528:R289C	ENSP00000263981:R385C	R	-	1	0	FBXW7	153468835	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CGT		0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			31	68	0	0	0	1	0	31	68					A	153249385	G	A	153249385	3	1	23	1	0	0	0	0	1	0	0	0	5777	1087	38	1	746	1	FBXW7	4	153249385	Missense_Mutation	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08	90403998	153249385	37904891	21	2416										
NPY2R	4887	broad.mit.edu	37	chr4	156135433	156135433	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	cttacctataccttaatgggGgagtggaaaatgggtcctgt	12	7	0	0			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:156135433G>A	ENST00000329476.3	+	2	831	c.342G>A	c.(340-342)ggG>ggA	p.G114G	NPY2R_ENST00000506608.1_Silent_p.G114G	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	114					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)	CCTTAATGGGGGAGTGGAAAA	0.507																																						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.(340-342)ggG>ggA		neuropeptide Y receptor Y2							70	71	71					4																	156135433		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:156135433G>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.342G>A	4.37:g.156135433G>A			Somatic				NPY2R_ENST00000506608.1_Silent_p.G114G	p.G114G	NM_000910.2	NP_000901.1	WXS	Illumina GAIIx	Phase_I	P49146	NPY2R_HUMAN			2	831	+	all_hematologic(180;0.24)	Renal(120;0.0854)	114					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP	ENST00000329476.3	37	c.342G>A	CCDS3791.1																																																																																				0.507	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910		20	19	0	0	0	1	0	20	19					A	156135433	G	A	156135433	2	1	23	1	0	0	0	0	0	0	0	1	10618	1219	43	3		3	NPY2R	4	156135433	Silent	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08	2886048	156135433	35018843	22	2417										
IRF2	3660	broad.mit.edu	37	chr4	185340713	185340715	+	In_Frame_Del	DEL	TCT	TCT	-													0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	catccaggggatctgaaaaaTcttcttttcctgaaaaaaaa							TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:185340713_185340715delTCT	ENST00000393593.3	-	3	302_304	c.95_97delAGA	c.(94-99)aagatt>att	p.K32del	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	32					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ATCTGAAAAATCTTCTTTTCCTG	0.414																																						ENST00000393593.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.(94-99)att>a		interferon regulatory factor 2																																				SO:0001651	inframe_deletion	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185340713_185340715delTCT		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.95_97delAGA	4.37:g.185340716_185340718delTCT	ENSP00000377218:p.Lys32del		Somatic				IRF2_ENST00000512020.1_5'UTR	p.KI32del	NM_002199.3	NP_002190.2	WXS	Illumina GAIIx	Phase_I	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	3	302_304	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	32					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	In_Frame_Del	DEL	ENST00000393593.3	37	c.95_97delAGA	CCDS3835.1																																																																																				0.414	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			8	26						8	26	---	---	---	---	-	185340715	TCT	-	185340713	7	5	23	1	0	1	0	1	0	0	0	0	7837	1435	50	0	980	0	IRF2	4	185340713	In_Frame_Del	DEL	TCT	TCGA-N7-A4Y8-01A-11D-A28R-08	29205280	185340713	5813563	23	2418										
ITGA1	3672	broad.mit.edu	37	chr5	52193289	52193289	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	attttcctatgttatagccaCagctgaccagtcagcagctt	7	11	1	1			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr5:52193289C>T	ENST00000282588.6	+	10	1552	c.1094C>T	c.(1093-1095)aCa>aTa	p.T365I		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	365					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)				GTTATAGCCACAGCTGACCAG	0.393																																						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.(1093-1095)aCa>aTa		integrin, alpha 1							85	80	82					5																	52193289		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.chr5:52193289C>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.1094C>T	5.37:g.52193289C>T	ENSP00000282588:p.Thr365Ile		Somatic					p.T365I	NM_181501.1	NP_852478.1	WXS	Illumina GAIIx	Phase_I	P56199	ITA1_HUMAN			10	1552	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	365					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.1094C>T	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946664	0.92593	.	.	ENSG00000213949	ENST00000282588	T	0.71579	-0.58	6.16	6.16	0.99307	.	0.051300	0.85682	D	0.000000	D	0.84547	0.5496	M	0.79258	2.445	0.80722	D	1	D	0.71674	0.998	P	0.62813	0.907	D	0.84576	0.0658	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	365	P56199	ITA1_HUMAN	I	365	ENSP00000282588:T365I	ENSP00000282588:T365I	T	+	2	0	ITGA1	52229046	1.000000	0.71417	0.877000	0.34402	0.918000	0.54935	7.373000	0.79623	2.937000	0.99478	0.650000	0.86243	ACA		0.393	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		6	6	0	0	0	1	0	6	6					T	52193289	C	T	52193289	3	4	23	1	0	0	0	0	1	0	0	0	7881	478	17	3	1132	3	ITGA1	5	52193289	Missense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08		52193289	128721971	24	2419										
TMEM173	340061	broad.mit.edu	37	chr5	138860776	138860776	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	gaggatgttcagtgcctgcgAgaggcccaggagggcaagca	17	9	1	1			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr5:138860776A>T	ENST00000330794.4	-	4	712	c.379T>A	c.(379-381)Tcg>Acg	p.S127T	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	127					activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGTGCCTGCGAGAGGCCCAGG	0.622																																						ENST00000330794.4																			0				endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(379-381)Tcg>Acg		transmembrane protein 173							64	67	66					5																	138860776		2203	4300	6503	SO:0001583	missense	340061				activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding	g.chr5:138860776A>T		CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.379T>A	5.37:g.138860776A>T	ENSP00000331288:p.Ser127Thr		Somatic				TMEM173_ENST00000511850.1_5'UTR	p.S127T	NM_198282.2	NP_938023.1	WXS	Illumina GAIIx	Phase_I	Q86WV6	TM173_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	712	-			127					A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Missense_Mutation	SNP	ENST00000330794.4	37	c.379T>A	CCDS4215.1	.	.	.	.	.	.	.	.	.	.	A	8.028	0.761200	0.15914	.	.	ENSG00000184584	ENST00000330794;ENST00000510817	T;T	0.22945	1.93;1.93	5.58	4.37	0.52481	.	0.653916	0.15490	N	0.259620	T	0.17831	0.0428	L	0.48362	1.52	0.23356	N	0.997847	P	0.37276	0.589	B	0.30316	0.114	T	0.10847	-1.0612	10	0.08381	T	0.77	-3.2247	11.2383	0.48953	0.8474:0.1526:0.0:0.0	.	127	Q86WV6	TM173_HUMAN	T	127	ENSP00000331288:S127T;ENSP00000427455:S127T	ENSP00000331288:S127T	S	-	1	0	TMEM173	138840960	0.566000	0.26618	0.865000	0.33974	0.005000	0.04900	2.084000	0.41625	2.120000	0.65058	0.459000	0.35465	TCG		0.622	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	NM_198282		36	42	0	0	0	1	0	36	42					T	138860776	A	T	138860776	3	4	23	1	0	0	0	0	1	0	0	0	16104	304	11	4	780	4	TMEM173	5	138860776	Missense_Mutation	SNP	A	TCGA-N7-A4Y8-01A-11D-A28R-08	86667487	138860776	42054484	25	2420										
PCDHA12	56137	broad.mit.edu	37	chr5	140257222	140257222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	gctgctgtacactgcgctgcGttgctcagcgccgcccaccg	12	17	1	0			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr5:140257222G>A	ENST00000398631.2	+	1	2165	c.2165G>A	c.(2164-2166)cGt>cAt	p.R722H	PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	722					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)			ACTGCGCTGCGTTGCTCAGCG	0.657																																					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.(2164-2166)cGt>cAt									32	31	31					5																	140257222		2203	4299	6502	SO:0001583	missense	0							g.chr5:140257222G>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.2165G>A	5.37:g.140257222G>A	ENSP00000381628:p.Arg722His		Somatic				PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	p.R722H	NM_018903.2|NM_031864.1	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	2165	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.2165G>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835945	0.32421	.	.	ENSG00000251664	ENST00000398631	T	0.17528	2.27	4.94	4.07	0.47477	.	.	.	.	.	T	0.38799	0.1054	H	0.96015	3.755	0.25729	N	0.98528	D;P	0.56746	0.977;0.79	P;B	0.47118	0.538;0.16	T	0.50792	-0.8786	9	0.87932	D	0	.	8.8107	0.34965	0.2208:0.0:0.7792:0.0	.	722;722	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	H	722	ENSP00000381628:R722H	ENSP00000381628:R722H	R	+	2	0	PCDHA12	140237406	0.013000	0.17824	0.807000	0.32361	0.083000	0.17756	1.139000	0.31504	1.072000	0.40860	0.655000	0.94253	CGT		0.657	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		31	43	0	0	0	1	0	31	43					A	140257222	G	A	140257222	3	1	23	1	0	0	0	0	1	0	0	0	11531	1145	40	1	2167	1	PCDHA12	5	140257222	Missense_Mutation	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08	1396446	140257222	40658038	26	2421										
GEMIN5	25929	broad.mit.edu	37	chr5	154299598	154299598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	actaagcttccagggattatGctgtaagacaatcccttctc	7	11	1	1			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr5:154299598G>A	ENST00000285873.7	-	11	1603	c.1528C>T	c.(1528-1530)Cat>Tat	p.H510Y		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	510					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGGGATTATGCTGTAAGACA	0.413																																						ENST00000285873.7																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1528-1530)Cat>Tat		gem (nuclear organelle) associated protein 5							170	145	154					5																	154299598		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154299598G>A	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"WD repeat domain containing"	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.1528C>T	5.37:g.154299598G>A	ENSP00000285873:p.His510Tyr		Somatic					p.H510Y	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	WXS	Illumina GAIIx	Phase_I	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	1603	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	510					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.1528C>T	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551527	0.86127	.	.	ENSG00000082516	ENST00000285873	T	0.03772	3.81	5.67	4.79	0.61399	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.18964	0.0455	M	0.64997	1.995	0.58432	D	0.999997	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.00525	-1.1689	10	0.49607	T	0.09	-14.8143	16.1725	0.81828	0.0:0.0:0.8655:0.1345	.	509;510	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	Y	510	ENSP00000285873:H510Y	ENSP00000285873:H510Y	H	-	1	0	GEMIN5	154279791	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.071000	0.93980	1.491000	0.48482	0.585000	0.79938	CAT		0.413	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			16	16	0	0	0	1	0	16	16					A	154299598	G	A	154299598	3	1	23	1	0	0	0	0	1	0	0	0	6339	1319	46	3	3070	3	GEMIN5	5	154299598	Missense_Mutation	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08	14042376	154299598	26615662	27	2422										
NUP153	9972	broad.mit.edu	37	chr6	17637615	17637615	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	tccaggtttcggtgtttcacAggctacacattttattgctt	8	9	1	0	rs564828480		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:17637615A>C	ENST00000262077.2	-	16	2232	c.2233T>G	c.(2233-2235)Tgt>Ggt	p.C745G	NUP153_ENST00000537253.1_Missense_Mutation_p.C776G	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	745					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGTGTTTCACAGGCTACACAT	0.443																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(2233-2235)Tgt>Ggt		nucleoporin 153kDa							190	186	187					6																	17637615		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17637615A>C	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2233T>G	6.37:g.17637615A>C	ENSP00000262077:p.Cys745Gly		Somatic				NUP153_ENST00000537253.1_Missense_Mutation_p.C776G	p.C745G	NM_005124.2	NP_005115.2	WXS	Illumina GAIIx	Phase_I	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		16	2232	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	745					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.2233T>G	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.244339	0.79912	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	D;D	0.99795	-6.78;-6.78	6.11	6.11	0.99139	Zinc finger, RanBP2-type (4);	0.000000	0.56097	D	0.000021	D	0.99871	0.9939	H	0.95079	3.62	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	0.96468	0.9346	10	0.87932	D	0	-14.3692	16.7021	0.85357	1.0:0.0:0.0:0.0	.	776;725;745	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	G	745;725;776	ENSP00000262077:C745G;ENSP00000444029:C776G	ENSP00000262077:C745G	C	-	1	0	NUP153	17745594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.923000	0.92808	2.343000	0.79666	0.533000	0.62120	TGT		0.443	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			42	116	0	0	0	1	0	42	116					C	17637615	A	C	17637615	3	2	23	1	0	0	0	0	1	0	0	0	10764	188	7	4	2222	4	NUP153	6	17637615	Missense_Mutation	SNP	A	TCGA-N7-A4Y8-01A-11D-A28R-08		17637615	153477452	28	2423										
HLA-E	3133	broad.mit.edu	37	chr6	30457613	30457613	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	cccagttcgtgcgcttcgacAacgacgccgcgagtccgagg	13	15	0	0			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:30457613A>G	ENST00000376630.4	+	2	240	c.175A>G	c.(175-177)Aac>Gac	p.N59D		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	59	Alpha-1.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						GCGCTTCGACAACGACGCCGC	0.672																																						ENST00000376630.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						c.(175-177)Aac>Gac		major histocompatibility complex, class I, E							60	65	63					6																	30457613		1510	2707	4217	SO:0001583	missense	3133				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:30457613A>G	M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.175A>G	6.37:g.30457613A>G	ENSP00000365817:p.Asn59Asp		Somatic					p.N59D	NM_005516.5	NP_005507.3	WXS	Illumina GAIIx	Phase_I	P13747	HLAE_HUMAN			2	240	+			59			Alpha-1.		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP	ENST00000376630.4	37	c.175A>G	CCDS34379.1	.	.	.	.	.	.	.	.	.	.	.	15.51	2.856384	0.51376	.	.	ENSG00000204592	ENST00000376630	T	0.00010	9.45	1.67	1.67	0.24075	.	0.377447	0.18534	U	0.138420	T	0.00039	0.0001	L	0.28192	0.835	0.21984	N	0.999438	B;B	0.33528	0.416;0.177	B;B	0.38712	0.28;0.156	T	0.00018	-1.2373	10	0.87932	D	0	.	5.384	0.16208	1.0:0.0:0.0:0.0	.	100;59	E7ENN9;Q6DU44	.;.	D	59	ENSP00000365817:N59D	ENSP00000365817:N59D	N	+	1	0	HLA-E	30565592	0.994000	0.37717	0.984000	0.44739	0.099000	0.18886	0.758000	0.26447	1.016000	0.39470	0.379000	0.24179	AAC		0.672	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516		32	87	0	0	0	1	0	32	87					G	30457613	A	G	30457613	3	3	23	1	0	0	0	0	1	0	0	0	7219	130	5	4	181	4	HLA-E	6	30457613	Missense_Mutation	SNP	A	TCGA-N7-A4Y8-01A-11D-A28R-08	12819998	30457613	140657454	29	2424										
DEFB112	245915	broad.mit.edu	37	chr6	50011295	50011295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	tgcatggatttcttcaatgaCgtgagtctttagggtaccat	10	7	3	2			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:50011295C>T	ENST00000322246.4	-	2	334	c.335G>A	c.(334-336)cGt>cAt	p.R112H		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	112					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TCTTCAATGACGTGAGTCTTT	0.403																																						ENST00000322246.4																			0				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(334-336)cGt>cAt		defensin, beta 112							91	78	83					6																	50011295		2203	4300	6503	SO:0001583	missense	245915				defense response to bacterium	extracellular region		g.chr6:50011295C>T	DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"Defensins, beta"	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.335G>A	6.37:g.50011295C>T	ENSP00000319126:p.Arg112His		Somatic					p.R112H	NM_001037498.1	NP_001032587.1	WXS	Illumina GAIIx	Phase_I	Q30KQ8	DB112_HUMAN			2	334	-	Lung NSC(77;0.042)		112					Q8NET0	Missense_Mutation	SNP	ENST00000322246.4	37	c.335G>A	CCDS34476.1	.	.	.	.	.	.	.	.	.	.	C	4.988	0.183551	0.09495	.	.	ENSG00000180872	ENST00000322246	.	.	.	1.47	-1.84	0.07809	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39921	-0.9590	8	0.21540	T	0.41	8.8214	2.6867	0.05109	0.0:0.3633:0.2581:0.3787	.	112	Q30KQ8	DB112_HUMAN	H	112	.	ENSP00000319126:R112H	R	-	2	0	DEFB112	50119254	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.238000	0.08977	-0.657000	0.05373	-0.242000	0.12053	CGT		0.403	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359672.1	NM_001037498		10	15	0	0	0	1	0	10	15					T	50011295	C	T	50011295	3	4	23	1	0	0	0	0	1	0	0	0	4403	536	19	1	9	1	DEFB112	6	50011295	Missense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08	19553682	50011295	121103772	30	2425										
AKD1	221264	broad.mit.edu	37	chr6	109815251	109815251	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	aaaaaggggaacttgggcttTaagcatcccgctgcattcat	10	9	1	0			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:109815251T>C	ENST00000424296.2	-	40	5542	c.5466A>G	c.(5464-5466)ttA>ttG	p.L1822L	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1822					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)										ACTTGGGCTTTAAGCATCCCG	0.363																																						ENST00000424296.2																			0											c.(5464-5466)ttA>ttG		adenylate kinase 9							69	73	72					6																	109815251		2203	4300	6503	SO:0001819	synonymous_variant	221264							g.chr6:109815251T>C	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.5466A>G	6.37:g.109815251T>C			Somatic				RP5-919F19.5_ENST00000423747.1_RNA	p.L1822L	NM_001145128.2	NP_001138600.2	WXS	Illumina GAIIx	Phase_I					40	5542	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	37	c.5466A>G	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	T	7.624	0.677481	0.14841	.	.	ENSG00000155085	ENST00000490722	.	.	.	5.07	1.38	0.22167	.	.	.	.	.	T	0.30448	0.0765	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.14062	-1.0486	4	.	.	.	.	4.3371	0.11092	0.138:0.2759:0.0:0.586	.	.	.	.	E	223	.	.	K	-	1	0	AKD1	109921944	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	0.966000	0.29331	0.348000	0.23949	-0.256000	0.11100	AAA		0.363	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		15	28	0	0	0	1	0	15	28					C	109815251	T	C	109815251	2	2	23	1	0	0	0	0	0	0	0	1	460	1751	61	4		4	AKD1	6	109815251	Silent	SNP	T	TCGA-N7-A4Y8-01A-11D-A28R-08	59803956	109815251	61299816	31	2426										
TBP	6908	broad.mit.edu	37	chr6	170871040	170871040	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	cagcagcagcagcagcagcaAcagcaacagcagcagcagca	11	14	0	0	rs71815788|rs55736770	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:170871040A>G	ENST00000392092.2	+	3	495	c.216A>G	c.(214-216)caA>caG	p.Q72Q	TBP_ENST00000230354.6_Silent_p.Q72Q|TBP_ENST00000540980.1_Silent_p.Q52Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	72	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcaacagcaacagc	0.567																																						ENST00000392092.2																			3	Deletion - In frame(3)	p.Q72del(3)	ovary(1)|prostate(1)|breast(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(214-216)caA>caG		TATA box binding protein							12	14	13					6																	170871040		1995	3894	5889	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871040A>G	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.216A>G	6.37:g.170871040A>G			Somatic				TBP_ENST00000230354.6_Silent_p.Q72Q|TBP_ENST00000540980.1_Silent_p.Q52Q	p.Q72Q	NM_003194.4	NP_003185.1	WXS	Illumina GAIIx	Phase_I	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	495	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	72			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.216A>G	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	79	0	0	0	1	0	4	79					G	170871040	A	G	170871040	2	3	23	1	0	0	0	0	0	0	0	1	15659	40	2	4		4	TBP	6	170871040	Silent	SNP	A	TCGA-N7-A4Y8-01A-11D-A28R-08	61055789	170871040	244027	32	2427										
ELN	2006	broad.mit.edu	37	chr7	73470684	73470684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	ccggctttggtgtcggagtcGgaggtatccctggagtcgca	16	10	0	0	rs375116795		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:73470684G>A	ENST00000252034.7	+	20	1633	c.1234G>A	c.(1234-1236)Gga>Aga	p.G412R	ELN_ENST00000414324.1_Missense_Mutation_p.G407R|ELN_ENST00000445912.1_Missense_Mutation_p.G412R|ELN_ENST00000358929.4_Missense_Mutation_p.G412R|ELN_ENST00000380575.4_Missense_Mutation_p.G402R|ELN_ENST00000357036.5_Missense_Mutation_p.G417R|ELN_ENST00000380584.4_Missense_Mutation_p.G398R|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000380562.4_Missense_Mutation_p.G412R|ELN_ENST00000429192.1_Missense_Mutation_p.G417R|ELN_ENST00000320399.6_Missense_Mutation_p.G412R|ELN_ENST00000320492.7_Missense_Mutation_p.G376R|ELN_ENST00000380576.5_Missense_Mutation_p.G412R|ELN_ENST00000380553.4_Missense_Mutation_p.G295R|ELN_ENST00000458204.1_Missense_Mutation_p.G402R	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)				TGTCGGAGTCGGAGGTATCCC	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.(1234-1236)Gga>Aga		elastin	Rofecoxib(DB00533)	G	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	113	116	115		1234,1204,1249,1249,1234	1.4	0.1	7		115	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	ELN	NM_000501.2,NM_001081752.1,NM_001081753.1,NM_001081754.1,NM_001081755.1	125,125,125,125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	412/725,402/678,417/693,417/712,412/706	73470684	1,13005	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.chr7:73470684G>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.1234G>A	7.37:g.73470684G>A	ENSP00000252034:p.Gly412Arg		Somatic				ELN_ENST00000414324.1_Missense_Mutation_p.G407R|ELN_ENST00000380553.4_Missense_Mutation_p.G295R|ELN_ENST00000380562.4_Missense_Mutation_p.G412R|ELN_ENST00000380575.4_Missense_Mutation_p.G402R|ELN_ENST00000380576.5_Missense_Mutation_p.G412R|ELN_ENST00000380584.4_Missense_Mutation_p.G398R|ELN_ENST00000358929.4_Missense_Mutation_p.G412R|ELN_ENST00000357036.5_Missense_Mutation_p.G417R|ELN_ENST00000320399.6_Missense_Mutation_p.G412R|ELN_ENST00000320492.7_Missense_Mutation_p.G376R|ELN_ENST00000429192.1_Missense_Mutation_p.G417R|ELN_ENST00000458204.1_Missense_Mutation_p.G402R|ELN_ENST00000445912.1_Missense_Mutation_p.G412R|ELN_ENST00000466878.1_3'UTR	p.G412R	NM_000501.2	NP_000492.2	WXS	Illumina GAIIx	Phase_I	P15502	ELN_HUMAN			20	1633	+		Lung NSC(55;0.159)	412			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1234G>A	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619382	0.28801	0.0	1.16E-4	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46063	0.9;0.94;1.26;1.17;1.21;0.94;1.1;1.21;0.98;0.91;1.15;0.88;1.0;0.89	1.37	1.37	0.22104	.	.	.	.	.	T	0.46983	0.1421	.	.	.	0.18873	N	0.999989	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.78314	0.991;0.991;0.991;0.991;0.991;0.991;0.991;0.991;0.991;0.991;0.991;0.991;0.991;0.991	T	0.35375	-0.9791	8	0.14252	T	0.57	-0.2172	5.7639	0.18215	0.0:0.0:1.0:0.0	.	412;381;376;407;402;412;402;417;417;412;295;368;398;412	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.;.	R	412;412;412;376;407;412;402;398;402;417;417;381;295;412;412	ENSP00000389857:G412R;ENSP00000252034:G412R;ENSP00000351807:G412R;ENSP00000315607:G376R;ENSP00000392575:G407R;ENSP00000369936:G412R;ENSP00000369949:G402R;ENSP00000369958:G398R;ENSP00000403162:G402R;ENSP00000349540:G417R;ENSP00000391129:G417R;ENSP00000369926:G295R;ENSP00000369950:G412R;ENSP00000313565:G412R	ENSP00000252034:G412R	G	+	1	0	ELN	73108620	0.929000	0.31497	0.124000	0.21820	0.158000	0.22134	2.417000	0.44653	0.513000	0.28278	0.306000	0.20318	GGA		0.637	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		51	118	0	0	0	1	0	51	118					A	73470684	G	A	73470684	3	1	23	1	0	0	0	0	1	0	0	0	5073	1117	39	1	1327	1	ELN	7	73470684	Missense_Mutation	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08		73470684	85667979	33	2428										
RBM28	55131	broad.mit.edu	37	chr7	127958088	127958088	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	tgctcgtgctcttggaactcCgcaaaggcgtagcccaggga	13	12	1	0			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:127958088C>T	ENST00000223073.2	-	15	1749	c.1635G>A	c.(1633-1635)gcG>gcA	p.A545A	RBM28_ENST00000481788.1_Intron|RBM28_ENST00000415472.2_Silent_p.A404A	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	545	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTTGGAACTCCGCAAAGGCGT	0.512																																						ENST00000223073.1																			0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1633-1635)gcG>gcA		RNA binding motif protein 28							93	80	85					7																	127958088		2203	4300	6503	SO:0001819	synonymous_variant	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127958088C>T	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1635G>A	7.37:g.127958088C>T			Somatic				RBM28_ENST00000481788.1_Intron|RBM28_ENST00000415472.2_Silent_p.A404A	p.A545A	NM_018077.2	NP_060547.2	WXS	Illumina GAIIx	Phase_I	Q9NW13	RBM28_HUMAN			15	1749	-			545			RRM 4.		A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Silent	SNP	ENST00000223073.2	37	c.1635G>A	CCDS5801.1																																																																																				0.512	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		15	28	0	0	0	1	0	15	28					T	127958088	C	T	127958088	2	4	23	1	0	0	0	0	0	0	0	1	13143	639	23	1		1	RBM28	7	127958088	Silent	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08	54487404	127958088	31180575	34	2429										
PDIA4	9601	broad.mit.edu	37	chr7	148701262	148701262	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	tgacgggtcccttgttgttcTtgggcactggctgggatttg	15	8	1	1			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:148701262T>G	ENST00000286091.4	-	10	1794	c.1562A>C	c.(1561-1563)aAg>aCg	p.K521T		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	521	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CTTGTTGTTCTTGGGCACTGG	0.562																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(1561-1563)aAg>aCg		protein disulfide isomerase family A, member 4							153	143	146					7																	148701262		2203	4300	6503	SO:0001583	missense	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148701262T>G	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1562A>C	7.37:g.148701262T>G	ENSP00000286091:p.Lys521Thr		Somatic					p.K521T	NM_004911.4	NP_004902.1	WXS	Illumina GAIIx	Phase_I	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		10	1794	-	Melanoma(164;0.15)		521			Thioredoxin 3.		A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	c.1562A>C	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.272202	0.80469	.	.	ENSG00000155660	ENST00000286091	T	0.14516	2.5	5.8	3.35	0.38373	Thioredoxin-like fold (3);	0.044623	0.85682	D	0.000000	T	0.20373	0.0490	L	0.28344	0.845	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.01432	-1.1356	10	0.48119	T	0.1	.	8.5649	0.33534	0.0:0.0674:0.1305:0.8021	.	521	P13667	PDIA4_HUMAN	T	521	ENSP00000286091:K521T	ENSP00000286091:K521T	K	-	2	0	PDIA4	148332195	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.763000	0.62257	1.034000	0.39945	0.528000	0.53228	AAG		0.562	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		5	174	0	0	0	1	0	5	174					G	148701262	T	G	148701262	3	3	23	1	0	0	0	0	1	0	0	0	11679	1609	56	4	379	4	PDIA4	7	148701262	Missense_Mutation	SNP	T	TCGA-N7-A4Y8-01A-11D-A28R-08	20743174	148701262	10437401	35	2430										
PDIA4	9601	broad.mit.edu	37	chr7	148702238	148702238	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	cagccacgggctcaccttttTtgaaagcagtgacaaactcg	9	12	1	2			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:148702238T>C	ENST00000286091.4	-	9	1749	c.1517A>G	c.(1516-1518)aAa>aGa	p.K506R		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	506	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CTCACCTTTTTTGAAAGCAGT	0.607																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(1516-1518)aAa>aGa		protein disulfide isomerase family A, member 4							112	112	112					7																	148702238		2203	4300	6503	SO:0001583	missense	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148702238T>C	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1517A>G	7.37:g.148702238T>C	ENSP00000286091:p.Lys506Arg		Somatic					p.K506R	NM_004911.4	NP_004902.1	WXS	Illumina GAIIx	Phase_I	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		9	1749	-	Melanoma(164;0.15)		506			Thioredoxin 3.		A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	c.1517A>G	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.211391	0.39102	.	.	ENSG00000155660	ENST00000286091	T	0.18657	2.2	5.57	5.57	0.84162	Thioredoxin-like fold (3);	0.043393	0.85682	D	0.000000	T	0.16642	0.0400	N	0.25380	0.74	0.80722	D	1	B	0.29646	0.253	B	0.29267	0.1	T	0.07214	-1.0784	10	0.23302	T	0.38	.	15.7239	0.77736	0.0:0.0:0.0:1.0	.	506	P13667	PDIA4_HUMAN	R	506	ENSP00000286091:K506R	ENSP00000286091:K506R	K	-	2	0	PDIA4	148333171	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.756000	0.85195	2.116000	0.64780	0.533000	0.62120	AAA		0.607	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		62	162	0	0	0	1	0	62	162					C	148702238	T	C	148702238	3	2	23	1	0	0	0	0	1	0	0	0	11679	1841	64	4	428	4	PDIA4	7	148702238	Missense_Mutation	SNP	T	TCGA-N7-A4Y8-01A-11D-A28R-08	976	148702238	10436425	36	2431										
SSPO	23145	broad.mit.edu	37	chr7	149497429	149497429	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	gcagtgtggccccggccagaCgccctgtgaggtgctgggct	17	13	0	2	rs376922559	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:149497429C>T	ENST00000378016.2	+	0	7187							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)			CCCGGCCAGACGCCCTGTGAG	0.687													C|||	2	0.000399361	8e-04	0	5008	,	,		16791	0.001		0	False		,,,				2504	0					ENST00000378016.2																			0													SCO-spondin		C		3,4305		0,3,2151	20	27	24		7191	0.7	0.1	7		24	0,8502		0,0,4251	no	coding-notMod3	SSPO	NM_198455.2		0,3,6402	TT,TC,CC		0.0,0.0696,0.0234			149497429	3,12807	2154	4251	6405			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149497429C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149497429C>T			Somatic								WXS	Illumina GAIIx	Phase_I	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	7187	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				10	19	0	0	0	1	0	10	19					T	149497429	C	T	149497429	1	4	23	0	1	0	0	0	0	0	0	0	15204	536	19	1		1	SSPO	7	149497429	RNA	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08	795191	149497429	9641234	37	2432										
NRG1	3084	broad.mit.edu	37	chr8	32616940	32616940	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	cactccactactgtcacccaGactcctagccacaggtatga	6	16	1	2			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr8:32616940G>T	ENST00000405005.3	+	10	1047	c.1047G>T	c.(1045-1047)caG>caT	p.Q349H	NRG1_ENST00000523079.1_Missense_Mutation_p.Q346H|NRG1_ENST00000539990.1_Missense_Mutation_p.Q192H|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287845.5_Missense_Mutation_p.Q320H|NRG1_ENST00000521670.1_Missense_Mutation_p.Q349H|NRG1_ENST00000338921.4_Missense_Mutation_p.Q357H|NRG1_ENST00000519301.1_Missense_Mutation_p.Q299H|NRG1_ENST00000287842.3_Missense_Mutation_p.Q346H|NRG1_ENST00000356819.4_Missense_Mutation_p.Q354H			Q02297	NRG1_HUMAN	neuregulin 1	349					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTGTCACCCAGACTCCTAGCC	0.448																																						ENST00000338921.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(1069-1071)caG>caT		neuregulin 1							108	95	100					8																	32616940		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32616940G>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1047G>T	8.37:g.32616940G>T	ENSP00000384620:p.Gln349His		Somatic				NRG1_ENST00000521670.1_Missense_Mutation_p.Q349H|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000405005.2_Missense_Mutation_p.Q349H|NRG1_ENST00000287845.5_Missense_Mutation_p.Q320H|NRG1_ENST00000287840.5_Missense_Mutation_p.Q349H|NRG1_ENST00000287842.3_Missense_Mutation_p.Q346H|NRG1_ENST00000539990.1_Missense_Mutation_p.Q192H|NRG1_ENST00000519301.1_Missense_Mutation_p.Q299H|NRG1_ENST00000523079.1_Missense_Mutation_p.Q346H|NRG1_ENST00000356819.4_Missense_Mutation_p.Q354H	p.Q357H			WXS	Illumina GAIIx	Phase_I	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	11	1588	+		Breast(100;0.203)	349					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.1071G>T	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598515	0.28445	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000521670;ENST00000539990	T;T;T;T;T;T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16	6.16	5.29	0.74685	Neuregulin 1-related, C-terminal (1);	0.114155	0.64402	D	0.000011	T	0.56277	0.1974	N	0.11927	0.2	0.54753	D	0.999981	D;B;B;B;B;B;B;B;B;B;B	0.67145	0.996;0.085;0.211;0.019;0.024;0.211;0.002;0.01;0.03;0.019;0.285	D;B;B;B;B;B;B;B;B;B;B	0.85130	0.997;0.147;0.147;0.03;0.05;0.147;0.003;0.03;0.075;0.03;0.155	T	0.55082	-0.8196	10	0.22109	T	0.4	-0.0215	11.4983	0.50422	0.1363:0.0:0.8637:0.0	.	192;195;346;320;354;345;357;346;349;354;349	B7Z1E3;B7Z1D7;E9PHH4;F8W9E3;Q7RTW4;B0FYA9;Q02297-2;Q02297-7;Q02297;Q02297-6;Q02297-3	.;.;.;.;.;.;.;.;NRG1_HUMAN;.;.	H	316;299;422;346;357;354;349;320;346;349;349;192	ENSP00000430053:Q316H;ENSP00000429582:Q299H;ENSP00000429067:Q422H;ENSP00000430120:Q346H;ENSP00000343395:Q357H;ENSP00000349275:Q354H;ENSP00000287840:Q349H;ENSP00000287845:Q320H;ENSP00000287842:Q346H;ENSP00000384620:Q349H;ENSP00000428828:Q349H;ENSP00000439276:Q192H	ENSP00000287840:Q349H	Q	+	3	2	NRG1	32736482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.191000	0.42640	1.617000	0.50277	0.650000	0.86243	CAG		0.448	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			20	66	1	0	9.7654e-05	1	0.000102196	20	66					T	32616940	G	T	32616940	3	4	23	1	0	0	0	0	1	0	0	0	10656	933	33	2	2681	2	NRG1	8	32616940	Missense_Mutation	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08		32616940	113747082	38	2433										
SLC7A13	157724	broad.mit.edu	37	chr8	87229900	87229900	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	tgactattaagtgtattaaaTagcaaaggcagctggccctc	9	8	0	1			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr8:87229900T>G	ENST00000297524.3	-	3	1081	c.978A>C	c.(976-978)ctA>ctC	p.L326L	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Silent_p.L317L	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	326						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GTGTATTAAATAGCAAAGGCA	0.358																																						ENST00000297524.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(976-978)ctA>ctC		solute carrier family 7 (anionic amino acid transporter), member 13							89	100	96					8																	87229900		2203	4300	6503	SO:0001819	synonymous_variant	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87229900T>G	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.978A>C	8.37:g.87229900T>G			Somatic				SLC7A13_ENST00000419776.2_Silent_p.L317L|SLC7A13_ENST00000520624.1_5'UTR	p.L326L	NM_138817.2	NP_620172.2	WXS	Illumina GAIIx	Phase_I	Q8TCU3	S7A13_HUMAN			3	1081	-			326					Q05C37|Q08AH9|Q96N84	Silent	SNP	ENST00000297524.3	37	c.978A>C	CCDS34917.1																																																																																				0.358	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		6	146	0	0	0	1	0	6	146					G	87229900	T	G	87229900	2	3	23	1	0	0	0	0	0	0	0	1	14710	1393	49	4		4	SLC7A13	8	87229900	Silent	SNP	T	TCGA-N7-A4Y8-01A-11D-A28R-08	54612960	87229900	59134122	39	2434										
SYBU	55638	broad.mit.edu	37	chr8	110590123	110590123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	tggagtcggcgctcagattcCttcagcttggttttgaggtg	14	8	2	2			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr8:110590123C>T	ENST00000422135.1	-	7	1373	c.858G>A	c.(856-858)aaG>aaA	p.K286K	SYBU_ENST00000433638.1_Silent_p.K286K|SYBU_ENST00000276646.9_Silent_p.K286K|SYBU_ENST00000424158.2_Silent_p.K291K|SYBU_ENST00000399066.3_Silent_p.K283K|SYBU_ENST00000532779.1_Silent_p.K218K|SYBU_ENST00000533065.1_Silent_p.K167K|SYBU_ENST00000529690.1_Silent_p.K156K|SYBU_ENST00000440310.1_Silent_p.K286K|SYBU_ENST00000533895.1_Silent_p.K285K|SYBU_ENST00000528331.1_Silent_p.K167K|SYBU_ENST00000446070.2_Silent_p.K285K|SYBU_ENST00000533171.1_Silent_p.K286K|SYBU_ENST00000419099.1_Silent_p.K285K|SYBU_ENST00000529175.1_Silent_p.K80K|SYBU_ENST00000528647.1_Silent_p.K285K|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000408908.2_Silent_p.K286K|SYBU_ENST00000408889.3_Silent_p.K167K	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	286	Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GCTCAGATTCCTTCAGCTTGG	0.478																																						ENST00000399066.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.(847-849)aaG>aaA		syntabulin (syntaxin-interacting)							181	178	179					8																	110590123		2016	4190	6206	SO:0001819	synonymous_variant	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110590123C>T	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.858G>A	8.37:g.110590123C>T			Somatic				SYBU_ENST00000532779.1_Silent_p.K218K|SYBU_ENST00000529690.1_Silent_p.K156K|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000424158.2_Silent_p.K291K|SYBU_ENST00000433638.1_Silent_p.K286K|SYBU_ENST00000408908.2_Silent_p.K286K|SYBU_ENST00000440310.1_Silent_p.K286K|SYBU_ENST00000528331.1_Silent_p.K167K|SYBU_ENST00000408889.3_Silent_p.K167K|SYBU_ENST00000533895.1_Silent_p.K285K|SYBU_ENST00000533065.1_Silent_p.K167K|SYBU_ENST00000446070.2_Silent_p.K285K|SYBU_ENST00000533171.1_Silent_p.K286K|SYBU_ENST00000276646.9_Silent_p.K286K|SYBU_ENST00000529175.1_Silent_p.K80K|SYBU_ENST00000528647.1_Silent_p.K285K|SYBU_ENST00000422135.1_Silent_p.K286K|SYBU_ENST00000419099.1_Silent_p.K285K	p.K283K	NM_001099756.1	NP_001093226.1	WXS	Illumina GAIIx	Phase_I	Q9NX95	SYBU_HUMAN			5	1576	-			286			Sufficient for interaction with KIF5B.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Silent	SNP	ENST00000422135.1	37	c.849G>A	CCDS47912.1																																																																																				0.478	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		48	122	0	0	0	1	0	48	122					T	110590123	C	T	110590123	2	4	23	1	0	0	0	0	0	0	0	1	15442	680	24	3		3	SYBU	8	110590123	Silent	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08	23360223	110590123	35773899	40	2435										
ZNF251	90987	broad.mit.edu	37	chr8	145948368	145948368	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	cagtgtgacttctctggtgtCtacttaggtctgaattatat	9	7	3	2			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr8:145948368C>T	ENST00000292562.7	-	5	952	c.677G>A	c.(676-678)aGa>aAa	p.R226K	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTCTGGTGTCTACTTAGGTC	0.428																																						ENST00000292562.7																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17						c.(676-678)aGa>aAa		zinc finger protein 251							57	61	60					8																	145948368		2046	4208	6254	SO:0001583	missense	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145948368C>T	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.677G>A	8.37:g.145948368C>T	ENSP00000292562:p.Arg226Lys		Somatic				ZNF251_ENST00000524394.1_Intron	p.R226K	NM_138367.1	NP_612376.1	WXS	Illumina GAIIx	Phase_I	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	952	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		226					Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.677G>A	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	C	3.268	-0.149700	0.06585	.	.	ENSG00000198169	ENST00000292562	T	0.07114	3.22	2.27	2.27	0.28462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.14661	0.345	0.09310	N	1	B	0.21688	0.059	B	0.26517	0.07	T	0.40887	-0.9539	9	0.02654	T	1	-9.9663	8.7774	0.34769	0.0:0.7645:0.2355:0.0	.	226	Q9BRH9	ZN251_HUMAN	K	226	ENSP00000292562:R226K	ENSP00000292562:R226K	R	-	2	0	ZNF251	145919177	0.000000	0.05858	0.012000	0.15200	0.869000	0.49853	-1.503000	0.02277	1.552000	0.49463	0.563000	0.77884	AGA		0.428	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		51	51	0	0	0	1	0	51	51					T	145948368	C	T	145948368	3	4	23	1	0	0	0	0	1	0	0	0	17811	913	32	3	1342	3	ZNF251	8	145948368	Missense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08	35358245	145948368	415654	41	2436										
COL15A1	1306	broad.mit.edu	37	chr9	101748168	101748168	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	catcctctactacacggagcCaggctcccatgtgtcccaag	8	16	1	0			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:101748168C>G	ENST00000375001.3	+	3	845	c.422C>G	c.(421-423)cCa>cGa	p.P141R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	141	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			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)				TACACGGAGCCAGGCTCCCAT	0.607																																						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.(421-423)cCa>cGa		collagen, type XV, alpha 1							103	96	98					9																	101748168		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101748168C>G	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.422C>G	9.37:g.101748168C>G	ENSP00000364140:p.Pro141Arg		Somatic					p.P141R	NM_001855.3	NP_001846.3	WXS	Illumina GAIIx	Phase_I	P39059	COFA1_HUMAN			3	845	+		Acute lymphoblastic leukemia(62;0.0562)	141			TSP N-terminal.		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.422C>G	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996797	0.35226	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.73047	-0.71	5.25	4.36	0.52297	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.115312	0.56097	D	0.000024	T	0.71626	0.3362	M	0.73598	2.24	0.51012	D	0.999901	B;B	0.22003	0.025;0.063	B;B	0.30316	0.038;0.114	T	0.71341	-0.4622	10	0.56958	D	0.05	-13.6882	12.17	0.54152	0.0:0.9157:0.0:0.0843	.	141;111	P39059;B3KTP7	COFA1_HUMAN;.	R	141;111	ENSP00000364140:P141R	ENSP00000364140:P141R	P	+	2	0	COL15A1	100787989	0.994000	0.37717	0.938000	0.37757	0.264000	0.26372	3.223000	0.51231	1.349000	0.45751	-0.143000	0.13931	CCA		0.607	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		11	86	0	0	0	1	0	11	86					G	101748168	C	G	101748168	3	3	23	1	0	0	0	0	1	0	0	0	3674	594	21	5	432	5	COL15A1	9	101748168	Missense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08		101748168	39465263	42	2437										
SLC44A1	23446	broad.mit.edu	37	chr9	108118561	108118569	+	In_Frame_Del	DEL	CCCTGATCA	CCCTGATCA	-													0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	ctatgccaagtttgcagaggCcctgatcacctttgtcagtg					rs41306484	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:108118561_108118569delCCCTGATCA	ENST00000374720.3	+	6	816_824	c.569_577delCCCTGATCA	c.(568-579)gccctgatcacc>gcc	p.LIT191del	SLC44A1_ENST00000343170.7_5'UTR|SLC44A1_ENST00000374724.1_In_Frame_Del_p.LIT191del|SLC44A1_ENST00000374723.1_In_Frame_Del_p.LIT191del	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	191					choline transport (GO:0015871)|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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TTTGCAGAGGCCCTGATCACCTTTGTCAG	0.407																																						ENST00000374720.3																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(568-579)gcc>g		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)																																			SO:0001651	inframe_deletion	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108118561_108118569delCCCTGATCA	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.569_577delCCCTGATCA	9.37:g.108118561_108118569delCCCTGATCA	ENSP00000363852:p.Leu191_Thr193del		Somatic				SLC44A1_ENST00000374723.1_In_Frame_Del_p.ALIT190del|SLC44A1_ENST00000374724.1_In_Frame_Del_p.ALIT190del|SLC44A1_ENST00000343170.7_5'UTR	p.ALIT190del	NM_080546.3	NP_536856.2	WXS	Illumina GAIIx	Phase_I	Q8WWI5	CTL1_HUMAN			6	816_824	+			190					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	In_Frame_Del	DEL	ENST00000374720.3	37	c.569_577delCCCTGATCA	CCDS6763.1																																																																																				0.407	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		9	40						9	40	---	---	---	---	-	108118569	CCCTGATCA	-	108118561	7	5	23	1	0	1	0	1	0	0	0	0	14650	739	26	0	591	0	SLC44A1	9	108118561	In_Frame_Del	DEL	CCCTGATCA	TCGA-N7-A4Y8-01A-11D-A28R-08	6370393	108118561	33094870	43	2438										
CDK5RAP2	55755	broad.mit.edu	37	chr9	123169430	123169430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	gagtgctgctggtttcgatgCtcctttctagttgcaagcgc	12	10	1	0	rs199902405		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:123169430C>T	ENST00000349780.4	-	32	5002	c.4823G>A	c.(4822-4824)aGc>aAc	p.S1608N	CDK5RAP2_ENST00000360190.4_Intron|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1576N|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1567N	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1608					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						GGTTTCGATGCTCCTTTCTAG	0.602																																						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.(4822-4824)aGc>aAc		CDK5 regulatory subunit associated protein 2							103	84	90					9																	123169430		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.chr9:123169430C>T	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4823G>A	9.37:g.123169430C>T	ENSP00000343818:p.Ser1608Asn		Somatic				CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1567N|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1576N|CDK5RAP2_ENST00000360190.4_Intron	p.S1608N	NM_018249.4	NP_060719.4	WXS	Illumina GAIIx	Phase_I	Q96SN8	CK5P2_HUMAN			32	5002	-			1608					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.4823G>A	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969955	0.53614	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T	0.51817	2.53;2.51;2.51;1.26;0.69	5.44	4.53	0.55603	.	0.097482	0.45867	D	0.000329	T	0.66479	0.2793	M	0.78637	2.42	0.27074	N	0.963257	D;D;D;D	0.76494	0.989;0.999;0.998;0.996	P;D;P;P	0.63283	0.801;0.913;0.82;0.876	T	0.64441	-0.6407	10	0.72032	D	0.01	.	14.1548	0.65410	0.0:0.8498:0.1501:0.0	.	618;1576;1608;1002	Q5JTU8;Q96SN8-2;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	N	1576;1567;1608;1002;618;1380	ENSP00000354065:S1576N;ENSP00000352258:S1567N;ENSP00000343818:S1608N;ENSP00000400395:S1002N;ENSP00000409941:S618N	ENSP00000341695:S1380N	S	-	2	0	CDK5RAP2	122209251	1.000000	0.71417	0.979000	0.43373	0.167000	0.22549	5.992000	0.70609	1.268000	0.44264	0.655000	0.94253	AGC		0.602	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		25	38	0	0	0	1	0	25	38					T	123169430	C	T	123169430	3	4	23	1	0	0	0	0	1	0	0	0	3148	797	28	3	886	3	CDK5RAP2	9	123169430	Missense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08	15050869	123169430	18044001	44	2439										
PRRX2	51450	broad.mit.edu	37	chr9	132481518	132481518	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	caacctccgcaggtgagtgtCccagcccggggcgcggtagc	15	15	0	1			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:132481518C>T	ENST00000372469.4	+	2	495	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S	RP11-483H20.6_ENST00000440413.1_RNA	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	90				P -> S (in Ref. 5; AAB39864). {ECO:0000305}.	artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|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)			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				AGGTGAGTGTCCCAGCCCGGG	0.657																																						ENST00000372469.4																			0				lung(2)|pancreas(1)	3						c.(268-270)Ccc>Tcc		paired related homeobox 2							13	16	15					9																	132481518		2178	4288	6466	SO:0001583	missense	51450					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:132481518C>T	AF061970	CCDS6926.1	9q34.11	2011-06-20			ENSG00000167157	ENSG00000167157		"Homeoboxes / PRD class"	21338	protein-coding gene	gene with protein product		604675				11063257	Standard	NM_016307		Approved	PRX2, PMX2	uc004byh.3	Q99811	OTTHUMG00000020790	ENST00000372469.4:c.268C>T	9.37:g.132481518C>T	ENSP00000361547:p.Pro90Ser		Somatic					p.P90S	NM_016307.3	NP_057391.1	WXS	Illumina GAIIx	Phase_I	Q99811	PRRX2_HUMAN			2	495	+		Ovarian(14;0.00556)	90	P -> S (in Ref. 5; AAB39864).				Q5SZB5|Q9UIB3	Missense_Mutation	SNP	ENST00000372469.4	37	c.268C>T	CCDS6926.1	.	.	.	.	.	.	.	.	.	.	C	8.569	0.879537	0.17467	.	.	ENSG00000167157	ENST00000372469	D	0.89681	-2.55	4.41	4.41	0.53225	Homeodomain-related (1);	0.300464	0.31312	N	0.007868	T	0.80518	0.4638	N	0.24115	0.695	0.43025	D	0.994584	B	0.29909	0.261	B	0.29353	0.101	T	0.76862	-0.2802	10	0.09338	T	0.73	.	16.1532	0.81636	0.0:1.0:0.0:0.0	.	90	Q99811	PRRX2_HUMAN	S	90	ENSP00000361547:P90S	ENSP00000361547:P90S	P	+	1	0	PRRX2	131521339	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	3.081000	0.50120	2.302000	0.77476	0.462000	0.41574	CCC		0.657	PRRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054598.2	NM_016307		9	7	0	0	0	1	0	9	7					T	132481518	C	T	132481518	3	4	23	1	0	0	0	0	1	0	0	0	12625	855	30	3	274	3	PRRX2	9	132481518	Missense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08	9312088	132481518	8731913	45	2440										
CEL	1056	broad.mit.edu	37	chr9	135946988	135946988	+	Frame_Shift_Del	DEL	C	C	-													0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	gcccacgggtgactccggggCcccccccgtgacccccacgg							TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:135946988delC	ENST00000372080.4	+	11	2124	c.2108delC	c.(2107-2109)gccfs	p.A703fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.A634fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	700	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GACTCCGGGGCCCCCCCCGTG	0.821																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(2107-2109)gcfs		carboxyl ester lipase				23,22,1847		4,0,15,6,10,911	2	3	3			1.6	0	9		3	60,92,4474		6,0,48,20,52,2187	no	codingComplex	CEL	NM_001807.3		10,0,63,26,62,3098	A1A1,A1A2,A1R,A2A2,A2R,RR		3.2858,2.3784,3.0224			135946988	83,114,6321	1105	2639	3744	SO:0001589	frameshift_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135946988delC	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.2108delC	9.37:g.135946988delC	ENSP00000361151:p.Ala703fs		Somatic				CEL_ENST00000351304.7_Frame_Shift_Del_p.A634fs	p.A703fs	NM_001807.3	NP_001798.2	WXS	Illumina GAIIx	Phase_I	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	11	2124	+			700			17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Del	DEL	ENST00000372080.4	37	c.2108delC	CCDS43896.1																																																																																				0.821	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			3	4						3	4	---	---	---	---	-	135946988	C	-	135946988	7	5	23	1	0	1	0	1	0	0	0	0	3211	739	26	0	2150	0	CEL	9	135946988	Frame_Shift_Del	DEL	C	TCGA-N7-A4Y8-01A-11D-A28R-08	3465470	135946988	5266443	46	2441										
BMS1	9790	broad.mit.edu	37	chr10	43317508	43317508	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	caaattttggggttcctgttAgcctgattttcggatagctg	11	7	0	1			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr10:43317508A>G	ENST00000374518.5	+	19	3072		c.e19-1			NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						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						GGTTCCTGTTAGCCTGATTTT	0.308																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.e19-1		BMS1 ribosome biogenesis factor							63	91	81					10																	43317508		1322	2261	3583	SO:0001630	splice_region_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43317508A>G	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.3010-1A>G	10.37:g.43317508A>G			Somatic						NM_014753.3	NP_055568.3	WXS	Illumina GAIIx	Phase_I	Q14692	BMS1_HUMAN			19	3072	+								Q5QPT5|Q86XJ9	Splice_Site	SNP	ENST00000374518.5	37		CCDS7199.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359805	0.24598	.	.	ENSG00000165733	ENST00000374518	.	.	.	4.03	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2635	0.60120	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BMS1	42637514	1.000000	0.71417	0.864000	0.33941	0.076000	0.17211	8.745000	0.91600	1.586000	0.49944	0.254000	0.18369	.		0.308	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	Intron	16	57	0	0	0	1	0	16	57					G	43317508	A	G	43317508	5	3	23	1	0	0	0	0	0	0	1	0	1472	434	15	4	3078	4	BMS1	10	43317508	Splice_Site	SNP	A	TCGA-N7-A4Y8-01A-11D-A28R-08		43317508	92217239	47	2442										
MUC5B	727897	broad.mit.edu	37	chr11	1268462	1268462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	acccccagtgccgaacaccaCggccaccacacacgggcggt	10	19	0	0	rs201116040	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:1268462C>T	ENST00000529681.1	+	31	10410	c.10352C>T	c.(10351-10353)aCg>aTg	p.T3451M	MUC5B_ENST00000447027.1_Missense_Mutation_p.T3454M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3451	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGAACACCACGGCCACCACA	0.687													-|||	17	0.00339457	0.0098	0	5008	,	,		21241	0.002		0	False		,,,				2504	0.002					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10360-10362)aCg>aTg		mucin 5B, oligomeric mucus/gel-forming		C	MET/THR	15,4225		0,15,2105	69	104	92		10352	-4.6	0	11		92	0,8432		0,0,4216	no	missense	MUC5B	NM_002458.2	81	0,15,6321	TT,TC,CC		0.0,0.3538,0.1184	benign	3451/5763	1268462	15,12657	2120	4216	6336	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268462C>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.10352C>T	11.37:g.1268462C>T	ENSP00000436812:p.Thr3451Met		Somatic				MUC5B_ENST00000529681.1_Missense_Mutation_p.T3451M|RP11-532E4.2_ENST00000532061.2_RNA	p.T3454M			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	10419	+		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)	3451	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.10361C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	1.141	-0.649408	0.03506	0.003538	0.0	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20332	2.08;2.26	2.31	-4.63	0.03359	.	.	.	.	.	T	0.12220	0.0297	L	0.46157	1.445	0.09310	N	1	P;B	0.44429	0.835;0.141	B;B	0.36608	0.229;0.007	T	0.02567	-1.1140	9	0.87932	D	0	.	0.588	0.00723	0.3699:0.2126:0.2262:0.1913	.	3979;3454	A7Y9J9;E9PBJ0	.;.	M	3451;3454;3423;3356	ENSP00000436812:T3451M;ENSP00000415793:T3454M	ENSP00000343037:T3423M	T	+	2	0	MUC5B	1225038	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.343000	0.19944	-2.380000	0.00594	-0.698000	0.03680	ACG		0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		11	55	0	0	0	1	0	11	55					T	1268462	C	T	1268462	3	4	23	1	0	0	0	0	1	0	0	0	9988	536	19	1	10483	1	MUC5B	11	1268462	Missense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08		1268462	133738054	48	2443										
TH	7054	broad.mit.edu	37	chr11	2186489	2186489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	tgtccttggcgtcactgaagCtctcagacacgaagtagact	10	11	2	3			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:2186489C>T	ENST00000381178.1	-	13	1418	c.1400G>A	c.(1399-1401)aGc>aAc	p.S467N	TH_ENST00000333684.5_Missense_Mutation_p.S346N|TH_ENST00000381175.1_Missense_Mutation_p.S463N|TH_ENST00000352909.3_Missense_Mutation_p.S436N	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	467					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GTCACTGAAGCTCTCAGACAC	0.622																																						ENST00000381178.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11						c.(1399-1401)aGc>aAc		tyrosine hydroxylase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						121	107	112					11																	2186489		2202	4299	6501	SO:0001583	missense	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2186489C>T	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.1400G>A	11.37:g.2186489C>T	ENSP00000370571:p.Ser467Asn		Somatic				TH_ENST00000381175.1_Missense_Mutation_p.S463N|TH_ENST00000333684.5_Missense_Mutation_p.S346N|TH_ENST00000352909.3_Missense_Mutation_p.S436N	p.S467N	NM_199292.2	NP_954986.2	WXS	Illumina GAIIx	Phase_I	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	13	1418	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	467					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	c.1400G>A	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564957	0.45694	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.99748	-6.62;-6.62;-6.62;-6.62	3.66	3.66	0.41972	Aromatic amino acid hydroxylase, C-terminal (4);	0.041393	0.85682	D	0.000000	D	0.99248	0.9738	L	0.56199	1.76	0.38249	D	0.941553	D;B;B;B;B;B	0.56521	0.976;0.064;0.183;0.033;0.04;0.033	P;B;B;B;B;B	0.52793	0.709;0.127;0.172;0.019;0.032;0.019	D	0.99113	1.0847	10	0.56958	D	0.05	-16.3007	15.2129	0.73241	0.0:1.0:0.0:0.0	.	440;346;342;436;467;463	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	N	467;463;436;346	ENSP00000370571:S467N;ENSP00000370567:S463N;ENSP00000325951:S436N;ENSP00000328814:S346N	ENSP00000328814:S346N	S	-	2	0	TH	2143065	1.000000	0.71417	0.670000	0.29842	0.311000	0.27955	4.646000	0.61411	1.995000	0.58328	0.491000	0.48974	AGC		0.622	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		6	85	0	0	0	1	0	6	85					T	2186489	C	T	2186489	3	4	23	1	0	0	0	0	1	0	0	0	15853	797	28	3	194	3	TH	11	2186489	Missense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08	918027	2186489	132820027	49	2444										
OR4C12	283093	broad.mit.edu	37	chr11	50003749	50003749	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	gtgttctgcataggcttgagCcatacacccattaaaggaga	10	9	1	2			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:50003749C>A	ENST00000335238.4	-	1	322	c.289G>T	c.(289-291)Gct>Tct	p.A97S		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	97						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						TAGGCTTGAGCCATACACCCA	0.423																																						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.(289-291)Gct>Tct		olfactory receptor, family 4, subfamily C, member 12							123	122	122					11																	50003749		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003749C>A	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.289G>T	11.37:g.50003749C>A	ENSP00000334418:p.Ala97Ser		Somatic					p.A97S	NM_001005270.2	NP_001005270.1	WXS	Illumina GAIIx	Phase_I	Q96R67	OR4CC_HUMAN			1	322	-			97					B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.289G>T	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	12.50	1.955548	0.34471	.	.	ENSG00000221954	ENST00000335238	T	0.01359	4.98	3.31	-1.17	0.09648	GPCR, rhodopsin-like superfamily (1);	0.343346	0.20750	U	0.086366	T	0.01092	0.0036	N	0.21097	0.63	0.24368	N	0.994842	B	0.12013	0.005	B	0.12156	0.007	T	0.45101	-0.9284	10	0.41790	T	0.15	.	7.3395	0.26630	0.0:0.3029:0.0:0.6971	.	97	Q96R67	OR4CC_HUMAN	S	97	ENSP00000334418:A97S	ENSP00000334418:A97S	A	-	1	0	OR4C12	49960325	0.000000	0.05858	0.975000	0.42487	0.968000	0.65278	-0.237000	0.08990	-0.086000	0.12550	0.398000	0.26397	GCT		0.423	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		32	83	1	0	3.99451e-17	1	4.49382e-17	32	83					A	50003749	C	A	50003749	3	1	23	1	0	0	0	0	1	0	0	0	11055	739	26	5	644	5	OR4C12	11	50003749	Missense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08	47817260	50003749	85002767	50	2445										
YPEL4	219539	broad.mit.edu	37	chr11	57413796	57413796	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	ccagcccagtgtggttttgcAgctctcacagaaaatgtcag	10	11	2	1			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:57413796A>G	ENST00000524669.1	-	4	2990	c.268T>C	c.(268-270)Tgc>Cgc	p.C90R	YPEL4_ENST00000300022.3_Missense_Mutation_p.C90R|YPEL4_ENST00000531442.1_5'Flank|AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000544993.1_Missense_Mutation_p.C90R|YPEL4_ENST00000534711.1_Missense_Mutation_p.C90R			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)	90						nucleus (GO:0005634)				lung(2)|skin(1)	3						GTGGTTTTGCAGCTCTCACAG	0.557																																						ENST00000524669.1																			0				lung(2)|skin(1)	3						c.(268-270)Tgc>Cgc		yippee-like 4 (Drosophila)							90	82	85					11																	57413796		2201	4296	6497	SO:0001583	missense	219539					nucleolus		g.chr11:57413796A>G	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.268T>C	11.37:g.57413796A>G	ENSP00000432648:p.Cys90Arg		Somatic				YPEL4_ENST00000544993.1_Missense_Mutation_p.C90R|YPEL4_ENST00000534711.1_Missense_Mutation_p.C90R|YPEL4_ENST00000300022.3_Missense_Mutation_p.C90R|AP000662.4_ENST00000530595.1_RNA	p.C90R			WXS	Illumina GAIIx	Phase_I	Q96NS1	YPEL4_HUMAN			4	2990	-			90					B3KW92|Q2M3U7|Q65Z98	Missense_Mutation	SNP	ENST00000524669.1	37	c.268T>C	CCDS7963.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.632798	0.87660	.	.	ENSG00000166793	ENST00000524669;ENST00000300022;ENST00000544993;ENST00000534711	.	.	.	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	D	0.87989	0.6317	H	0.97540	4.025	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.92200	0.5767	9	0.87932	D	0	-12.3792	14.9918	0.71393	1.0:0.0:0.0:0.0	.	90	Q96NS1	YPEL4_HUMAN	R	90	.	ENSP00000300022:C90R	C	-	1	0	YPEL4	57170372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.043000	0.93799	2.026000	0.59711	0.454000	0.30748	TGC		0.557	YPEL4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393370.1	NM_145008		16	25	0	0	0	1	0	16	25					G	57413796	A	G	57413796	3	3	23	1	0	0	0	0	1	0	0	0	17507	188	7	4	123	4	YPEL4	11	57413796	Missense_Mutation	SNP	A	TCGA-N7-A4Y8-01A-11D-A28R-08	7410047	57413796	77592720	51	2446										
SCYL1	57410	broad.mit.edu	37	chr11	65302778	65302778	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	cactttgcacggctacaggcCaaggatgaacagggccccat	11	13	0	1			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:65302778C>T	ENST00000270176.5	+	10	1388	c.1311C>T	c.(1309-1311)gcC>gcT	p.A437A	SCYL1_ENST00000533862.1_Silent_p.A437A|SCYL1_ENST00000524944.1_Silent_p.A437A|SCYL1_ENST00000525364.1_Silent_p.A437A|SCYL1_ENST00000420247.2_Silent_p.A437A|SCYL1_ENST00000527009.1_Silent_p.A294A|SCYL1_ENST00000279270.6_Silent_p.A437A	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	437					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						GGCTACAGGCCAAGGATGAAC	0.577																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1309-1311)gcC>gcT		SCY1-like 1 (S. cerevisiae)							121	127	125					11																	65302778		2163	4256	6419	SO:0001819	synonymous_variant	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65302778C>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.1311C>T	11.37:g.65302778C>T			Somatic				SCYL1_ENST00000270176.5_Silent_p.A437A|SCYL1_ENST00000525364.1_Silent_p.A437A|SCYL1_ENST00000533862.1_Silent_p.A437A|SCYL1_ENST00000279270.6_Silent_p.A437A|SCYL1_ENST00000420247.2_Silent_p.A437A|SCYL1_ENST00000527630.1_Silent_p.A437A|SCYL1_ENST00000527009.1_Silent_p.A294A	p.A437A			WXS	Illumina GAIIx	Phase_I	Q96KG9	NTKL_HUMAN			10	1344	+			437					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	ENST00000270176.5	37	c.1311C>T	CCDS41672.1																																																																																				0.577	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		58	255	0	0	0	1	0	58	255					T	65302778	C	T	65302778	2	4	23	1	0	0	0	0	0	0	0	1	13962	581	21	3		3	SCYL1	11	65302778	Silent	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08	7888982	65302778	69703738	52	2447										
MOGAT2	80168	broad.mit.edu	37	chr11	75438615	75438615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	cttcgatcttccccggtatcCgcccccatctgatgatgctg	8	16	2	2	rs142019515	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:75438615C>T	ENST00000198801.5	+	3	476	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	MOGAT2_ENST00000526712.1_Missense_Mutation_p.R54C	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	136					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)					CCCCGGTATCCGCCCCCATCT	0.572																																						ENST00000526712.1																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(160-162)Cgc>Tgc		monoacylglycerol O-acyltransferase 2		C	CYS/ARG	7,4393	12.9+/-30.5	0,7,2193	124	115	118		406	3.9	0.8	11	dbSNP_134	118	0,8586		0,0,4293	yes	missense	MOGAT2	NM_025098.2	180	0,7,6486	TT,TC,CC		0.0,0.1591,0.0539	probably-damaging	136/335	75438615	7,12979	2200	4293	6493	SO:0001583	missense	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75438615C>T	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.406C>T	11.37:g.75438615C>T	ENSP00000198801:p.Arg136Cys		Somatic				MOGAT2_ENST00000198801.5_Missense_Mutation_p.R136C	p.R54C			WXS	Illumina GAIIx	Phase_I	Q3SYC2	MOGT2_HUMAN			2	933	+	Ovarian(111;0.103)		136					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	c.160C>T	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375629	0.42105	0.001591	0.0	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.19669	2.13;2.13	5.77	3.92	0.45320	.	0.242299	0.42053	N	0.000774	T	0.31104	0.0786	M	0.92604	3.325	0.54753	D	0.999988	B;B	0.17268	0.002;0.021	B;B	0.16722	0.005;0.016	T	0.19353	-1.0308	10	0.56958	D	0.05	-1.339	5.3876	0.16226	0.2443:0.5994:0.0:0.1563	.	136;136	Q3SYC2;Q3SYC2-3	MOGT2_HUMAN;.	C	136;54	ENSP00000198801:R136C;ENSP00000436283:R54C	ENSP00000198801:R136C	R	+	1	0	MOGAT2	75116263	0.056000	0.20664	0.844000	0.33320	0.591000	0.36615	0.794000	0.26958	0.796000	0.33947	0.655000	0.94253	CGC		0.572	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		148	58	0	0	0	1	0	148	58					T	75438615	C	T	75438615	3	4	23	1	0	0	0	0	1	0	0	0	9704	652	23	1	416	1	MOGAT2	11	75438615	Missense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08	10135837	75438615	59567901	53	2448										
IFFO1	25900	broad.mit.edu	37	chr12	6664977	6664977	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	agggtcttgagcacgttgatGttggagcccaggtcattgcg	15	8	2	2			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:6664977G>A	ENST00000396840.2	-	1	260	c.219C>T	c.(217-219)aaC>aaT	p.N73N	IFFO1_ENST00000356896.4_Silent_p.N73N|NOP2_ENST00000542015.1_5'Flank|IFFO1_ENST00000336604.4_Silent_p.N73N			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	73						intermediate filament (GO:0005882)		p.N73K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GCACGTTGATGTTGGAGCCCA	0.706																																						ENST00000336604.4																			1	Substitution - Missense(1)	p.N73K(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(217-219)aaC>aaT		intermediate filament family orphan 1							50	53	52					12																	6664977		2203	4300	6503	SO:0001819	synonymous_variant	25900					intermediate filament		g.chr12:6664977G>A	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"Intermediate filament family orphans"	24970	protein-coding gene	gene with protein product		610495	"intermediate filament family orphan"	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.219C>T	12.37:g.6664977G>A			Somatic				IFFO1_ENST00000396840.2_Silent_p.N73N|IFFO1_ENST00000356896.4_Silent_p.N73N	p.N73N	NM_080730.4	NP_542768.2	WXS	Illumina GAIIx	Phase_I	Q0D2I5	IFFO1_HUMAN			1	260	-			73					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	ENST00000396840.2	37	c.219C>T																																																																																					0.706	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		14	63	0	0	0	1	0	14	63					A	6664977	G	A	6664977	2	1	23	1	0	0	0	0	0	0	0	1	7519	1368	48	3		3	IFFO1	12	6664977	Silent	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08		6664977	127186918	54	2449										
GPRC5D	55507	broad.mit.edu	37	chr12	13103268	13103268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	atgccccatggcccctcggcGtcacagagaagaaaatagtc	10	13	1	2	rs183273006		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:13103268G>A	ENST00000228887.1	-	1	50	c.51C>T	c.(49-51)gaC>gaT	p.D17D	GPRC5D_ENST00000396333.3_Silent_p.D17D|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000538231.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GCCCCTCGGCGTCACAGAGAA	0.507																																						ENST00000228887.1																			0				kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(49-51)gaC>gaT		G protein-coupled receptor, family C, group 5, member D							100	94	96					12																	13103268		2203	4300	6503	SO:0001819	synonymous_variant	55507					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:13103268G>A	AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"GPCR / Class C : Orphans"	13310	protein-coding gene	gene with protein product		607437	"G protein-coupled receptor, family C, group 5, member D"				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.51C>T	12.37:g.13103268G>A			Somatic				GPRC5D_ENST00000396333.3_Silent_p.D17D|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA	p.D17D	NM_018654.1	NP_061124.1	WXS	Illumina GAIIx	Phase_I	Q9NZD1	GPC5D_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	1	50	-		Prostate(47;0.183)	17					Q3KNV3|Q7Z5J9|Q8TDS6	Silent	SNP	ENST00000228887.1	37	c.51C>T	CCDS8658.1																																																																																				0.507	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1			33	95	0	0	0	1	0	33	95					A	13103268	G	A	13103268	2	1	23	1	0	0	0	0	0	0	0	1	6736	1136	40	1		1	GPRC5D	12	13103268	Silent	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08	6438291	13103268	120748627	55	2450										
ERGIC2	51290	broad.mit.edu	37	chr12	29494102	29494102	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	ggaggtgttaatgtgtattaTtttctaaaagaggtaagtgg	13	1	1	1			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:29494102T>C	ENST00000360150.4	-	14	1196	c.1121A>G	c.(1120-1122)aAt>aGt	p.N374S		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	374				N -> S (in Ref. 4; BAD96519). {ECO:0000305}.	vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					ATGTGTATTATTTTCTAAAAG	0.318																																						ENST00000360150.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(1120-1122)aAt>aGt		ERGIC and golgi 2	Arsenic trioxide(DB01169)						67	61	62					12																	29494102		1808	4086	5894	SO:0001583	missense	51290				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus		g.chr12:29494102T>C	AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.1121A>G	12.37:g.29494102T>C	ENSP00000353270:p.Asn374Ser		Somatic					p.N374S	NM_016570.2	NP_057654.2	WXS	Illumina GAIIx	Phase_I	Q96RQ1	ERGI2_HUMAN			14	1196	-	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)		374	N -> S (in Ref. 4; BAD96519).				A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Missense_Mutation	SNP	ENST00000360150.4	37	c.1121A>G	CCDS41765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.50|15.50	2.851978|2.851978	0.51270|0.51270	.|.	.|.	ENSG00000087502|ENSG00000087502	ENST00000551467|ENST00000360150;ENST00000201023	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.193565	.|0.40908	.|D	.|0.000996	T|T	0.41534|0.41534	0.1163|0.1163	L|L	0.27053|0.27053	0.805|0.805	0.31399|0.31399	N|N	0.676925|0.676925	.|B	.|0.13594	.|0.008	.|B	.|0.12156	.|0.007	T|T	0.48592|0.48592	-0.9022|-0.9022	5|9	.|0.54805	.|T	.|0.06	.|.	13.0163|13.0163	0.58759|0.58759	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|374	.|Q96RQ1	.|ERGI2_HUMAN	V|S	206|374;382	.|.	.|ENSP00000201023:N382S	I|N	-|-	1|2	0|0	ERGIC2|ERGIC2	29385369|29385369	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.992000|0.992000	0.81027|0.81027	4.709000|4.709000	0.61867|0.61867	2.323000|2.323000	0.78572|0.78572	0.528000|0.528000	0.53228|0.53228	ATA|AAT		0.318	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1	NM_016570		3	12	0	0	0	1	0	3	12					C	29494102	T	C	29494102	3	2	23	1	0	0	0	0	1	0	0	0	5226	1493	52	4	16	4	ERGIC2	12	29494102	Missense_Mutation	SNP	T	TCGA-N7-A4Y8-01A-11D-A28R-08	16390834	29494102	104357793	56	2451										
OVCH1	341350	broad.mit.edu	37	chr12	29624754	29624754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	caattgcacacagtgggctgCggtcagaatccacactgggt	12	11	1	1	rs189201759		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:29624754C>T	ENST00000318184.5	-	16	1836	c.1837G>A	c.(1837-1839)Gca>Aca	p.A613T	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	613	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)					CAGTGGGCTGCGGTCAGAATC	0.493													C|||	1	0.000199681	0	0	5008	,	,		18244	0		0.001	False		,,,				2504	0					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.(1837-1839)Gca>Aca		ovochymase 1		C	THR/ALA	0,3986		0,0,1993	56	58	57		1837	2.1	0.4	12		57	4,8346		0,4,4171	yes	missense	OVCH1	NM_183378.2	58	0,4,6164	TT,TC,CC		0.0479,0.0,0.0324	probably-damaging	613/1135	29624754	4,12332	1993	4175	6168	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29624754C>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.1837G>A	12.37:g.29624754C>T	ENSP00000326708:p.Ala613Thr		Somatic				OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	p.A613T	NM_183378.2	NP_899234.2	WXS	Illumina GAIIx	Phase_I	Q7RTY7	OVCH1_HUMAN			16	1836	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		613			Peptidase S1 2.			Missense_Mutation	SNP	ENST00000318184.5	37	c.1837G>A		3	0.0013736263736263737	0	0.0	0	0.0	1	0.0017482517482517483	2	0.002638522427440633	C	24.4	4.525671	0.85600	0.0	4.79E-4	ENSG00000187950	ENST00000318184	D	0.95238	-3.65	2.06	2.06	0.26882	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.97331	0.9127	M	0.91818	3.245	0.41967	D	0.990731	D	0.89917	1.0	D	0.87578	0.998	D	0.97556	1.0095	9	0.87932	D	0	.	11.6663	0.51376	0.0:1.0:0.0:0.0	.	613	Q7RTY7	OVCH1_HUMAN	T	613	ENSP00000326708:A613T	ENSP00000326708:A613T	A	-	1	0	OVCH1	29516021	0.992000	0.36948	0.429000	0.26710	0.815000	0.46073	1.709000	0.37909	1.484000	0.48361	0.591000	0.81541	GCA		0.493	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		4	25	0	0	0	1	0	4	25					T	29624754	C	T	29624754	3	4	23	1	0	0	0	0	1	0	0	0	11332	768	27	1	1619	1	OVCH1	12	29624754	Missense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08	130652	29624754	104227141	57	2452										
ERBB3	2065	broad.mit.edu	37	chr12	56482341	56482341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	ccctagataactttgtggtgGatcaaacatcctgtgtcagg	10	9	2	1			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:56482341G>T	ENST00000267101.3	+	8	1329	c.889G>T	c.(889-891)Gat>Tat	p.D297Y	ERBB3_ENST00000415288.2_Missense_Mutation_p.D238Y|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	297					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.D297Y(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTTTGTGGTGGATCAAACATC	0.512																																						ENST00000267101.3																			1	Substitution - Missense(1)	p.D297Y(1)	breast(1)	central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(889-891)Gat>Tat		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							214	207	209					12																	56482341		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.chr12:56482341G>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.889G>T	12.37:g.56482341G>T	ENSP00000267101:p.Asp297Tyr		Somatic				ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.D238Y	p.D297Y	NM_001982.3	NP_001973.2	WXS	Illumina GAIIx	Phase_I	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		8	1329	+			297					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.889G>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070538	0.76301	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	D;D	0.84516	-1.86;-1.86	5.2	5.2	0.72013	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000003	D	0.90659	0.7070	L	0.53671	1.685	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.91282	0.5052	10	0.87932	D	0	.	17.6771	0.88233	0.0:0.0:1.0:0.0	.	297	P21860	ERBB3_HUMAN	Y	297;297;238	ENSP00000267101:D297Y;ENSP00000408340:D238Y	ENSP00000267101:D297Y	D	+	1	0	ERBB3	54768608	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	9.173000	0.94815	2.706000	0.92434	0.563000	0.77884	GAT		0.512	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			76	191	1	0	5.94106e-25	1	6.7683e-25	76	191					T	56482341	G	T	56482341	3	4	23	1	0	0	0	0	1	0	0	0	5210	1174	41	2	1050	2	ERBB3	12	56482341	Missense_Mutation	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08	26857587	56482341	77369554	58	2453										
ACADS	35	broad.mit.edu	37	chr12	121174898	121174898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	cgccatggaggagatcagccGtggctgcgcctccaccggag	15	14	1	1			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:121174898G>A	ENST00000242592.4	+	3	471	c.320G>A	c.(319-321)cGt>cAt	p.R107H	ACADS_ENST00000411593.2_Missense_Mutation_p.R107H	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	107			R -> C (in ACADSD).		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)	GAGATCAGCCGTGGCTGCGCC	0.672																																						ENST00000242592.4																			0				central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14						c.(319-321)cGt>cAt		acyl-CoA dehydrogenase, C-2 to C-3 short chain	NADH(DB00157)						32	31	31					12																	121174898		2199	4300	6499	SO:0001583	missense	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121174898G>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.320G>A	12.37:g.121174898G>A	ENSP00000242592:p.Arg107His		Somatic				ACADS_ENST00000411593.2_Missense_Mutation_p.R107H	p.R107H	NM_000017.2	NP_000008.1	WXS	Illumina GAIIx	Phase_I	P16219	ACADS_HUMAN			3	471	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	107		R -> C (in ACADSD).			P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.320G>A	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289062	0.95517	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.99816	-6.91;-6.91	4.86	4.86	0.63082	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.968;0.968	D	0.96215	0.9156	10	0.87932	D	0	.	18.3462	0.90322	0.0:0.0:1.0:0.0	.	107;107;107	E9PE82;E5KSD5;P16219	.;.;ACADS_HUMAN	H	107	ENSP00000242592:R107H;ENSP00000401045:R107H	ENSP00000242592:R107H	R	+	2	0	ACADS	119659281	1.000000	0.71417	0.993000	0.49108	0.802000	0.45316	9.672000	0.98629	2.381000	0.81170	0.563000	0.77884	CGT		0.672	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017		3	1	0	0	0	1	0	3	1					A	121174898	G	A	121174898	3	1	23	1	0	0	0	0	1	0	0	0	114	1145	40	1	330	1	ACADS	12	121174898	Missense_Mutation	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08	64692557	121174898	12676997	59	2454										
C13orf23	80209	broad.mit.edu	37	chr13	39603503	39603503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	cacttctgttggctggacagCcaccattttctgttgatata	8	10	2	1			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr13:39603503C>T	ENST00000352251.3	-	4	1023	c.190G>A	c.(190-192)Gct>Act	p.A64T	PROSER1_ENST00000350125.3_Missense_Mutation_p.A42T	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	64																	GGCTGGACAGCCACCATTTTC	0.318																																						ENST00000352251.3																			0											c.(190-192)Gct>Act		proline and serine rich 1							72	70	71					13																	39603503		1801	4069	5870	SO:0001583	missense	80209							g.chr13:39603503C>T	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.190G>A	13.37:g.39603503C>T	ENSP00000332034:p.Ala64Thr		Somatic				PROSER1_ENST00000350125.3_Missense_Mutation_p.A42T	p.A64T	NM_025138.3	NP_079414.3	WXS	Illumina GAIIx	Phase_I	Q86XN7	CM023_HUMAN			4	1023	-			64					A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.190G>A	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518563	0.85495	.	.	ENSG00000120685	ENST00000352251;ENST00000350125;ENST00000436678;ENST00000418503	T;T	0.44881	1.18;0.91	5.19	5.19	0.71726	.	.	.	.	.	T	0.50222	0.1603	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.995	T	0.45175	-0.9279	8	.	.	.	-19.3017	16.2088	0.82144	0.0:1.0:0.0:0.0	.	42;64	A6NJ97;Q86XN7	.;PRSR1_HUMAN	T	64;42;43;42	ENSP00000332034:A64T;ENSP00000339123:A42T	.	A	-	1	0	PROSER1	38501503	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.061000	0.76699	2.402000	0.81655	0.491000	0.48974	GCT		0.318	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		21	33	0	0	0	1	0	21	33					T	39603503	C	T	39603503	3	4	23	1	0	0	0	0	1	0	0	0	1723	739	26	3	2684	3	C13orf23	13	39603503	Missense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08		39603503	75566375	60	2455										
SLC15A1	6564	broad.mit.edu	37	chr13	99362129	99362129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	agtcaaacttacgattttccCggacatagttgttgcctgca	8	10	1	0	rs532061967		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr13:99362129C>T	ENST00000376503.5	-	12	992	c.937G>A	c.(937-939)Ggg>Agg	p.G313R		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	313					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ACGATTTTCCCGGACATAGTT	0.368													C|||	1	0.000199681	8e-04	0	5008	,	,		21393	0		0	False		,,,				2504	0					ENST00000376503.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(937-939)Ggg>Agg		solute carrier family 15 (oligopeptide transporter), member 1	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						109	108	108					13																	99362129		2203	4300	6503	SO:0001583	missense	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99362129C>T	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.937G>A	13.37:g.99362129C>T	ENSP00000365686:p.Gly313Arg		Somatic					p.G313R	NM_005073.3	NP_005064.1	WXS	Illumina GAIIx	Phase_I	P46059	S15A1_HUMAN			12	992	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		313					Q5VW82	Missense_Mutation	SNP	ENST00000376503.5	37	c.937G>A	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488691	0.64074	.	.	ENSG00000088386	ENST00000376503	T	0.04454	3.62	5.37	5.37	0.77165	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00033	-1.2270	10	0.56958	D	0.05	-19.9778	17.2541	0.87050	0.0:1.0:0.0:0.0	.	313	P46059	S15A1_HUMAN	R	313	ENSP00000365686:G313R	ENSP00000365686:G313R	G	-	1	0	SLC15A1	98160130	1.000000	0.71417	0.708000	0.30435	0.286000	0.27126	6.970000	0.76099	2.667000	0.90743	0.561000	0.74099	GGG		0.368	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073		42	65	0	0	0	1	0	42	65					T	99362129	C	T	99362129	3	4	23	1	0	0	0	0	1	0	0	0	14413	652	23	1	1237	1	SLC15A1	13	99362129	Missense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08	59758626	99362129	15807749	61	2456										
FAM161B	145483	broad.mit.edu	37	chr14	74407730	74407730	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	agagaacgactccttggcagGggtgtagctggtggctgtgg	18	7	0	1			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr14:74407730G>A	ENST00000534936.1	-	5	1404	c.1299C>T	c.(1297-1299)ccC>ccT	p.P433P	RP5-1021I20.5_ENST00000555916.1_RNA|FAM161B_ENST00000286544.3_Silent_p.P496P			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	433										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TCCTTGGCAGGGGTGTAGCTG	0.478																																						ENST00000286544.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						c.(1486-1488)ccC>ccT		family with sequence similarity 161, member B							113	102	106					14																	74407730		2203	4300	6503	SO:0001819	synonymous_variant	145483							g.chr14:74407730G>A	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 44"	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.1299C>T	14.37:g.74407730G>A			Somatic				FAM161B_ENST00000534936.1_Silent_p.P433P	p.P496P	NM_152445.2	NP_689658.2	WXS	Illumina GAIIx	Phase_I					5	1686	-								B7Z882|J3KNA2	Silent	SNP	ENST00000534936.1	37	c.1488C>T																																																																																					0.478	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445		24	73	0	0	0	1	0	24	73					A	74407730	G	A	74407730	2	1	23	1	0	0	0	0	0	0	0	1	5478	1219	43	3		3	FAM161B	14	74407730	Silent	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08		74407730	32941810	62	2457										
ITPKA	3706	broad.mit.edu	37	chr15	41794651	41794651	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	agactacgcgaagccgagagCaggtgcttcgcgtctttgaa	13	10	1	3			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr15:41794651C>G	ENST00000260386.5	+	5	1113	c.1060C>G	c.(1060-1062)Cag>Gag	p.Q354E		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	354					actin cytoskeleton organization (GO:0030036)|dendritic spine maintenance (GO:0097062)|inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|positive regulation of dendritic spine morphogenesis (GO:0061003)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendritic spine (GO:0043197)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			kidney(1)|lung(3)|skin(1)	5		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;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AAGCCGAGAGCAGGTGCTTCG	0.617																																						ENST00000260386.5																			0				kidney(1)|lung(3)|skin(1)	5						c.(1060-1062)Cag>Gag		inositol-trisphosphate 3-kinase A							68	71	70					15																	41794651		2203	4300	6503	SO:0001583	missense	3706				signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr15:41794651C>G	X54938	CCDS10076.1	15q15.1	2011-04-28	2011-04-28		ENSG00000137825	ENSG00000137825	2.7.1.127		6178	protein-coding gene	gene with protein product		147521	"inositol 1,4,5-trisphosphate 3-kinase A"			1330886, 2175886	Standard	NM_002220		Approved	IP3KA, IP3-3KA	uc001znz.3	P23677	OTTHUMG00000130343	ENST00000260386.5:c.1060C>G	15.37:g.41794651C>G	ENSP00000260386:p.Gln354Glu		Somatic					p.Q354E	NM_002220.2	NP_002211.1	WXS	Illumina GAIIx	Phase_I	P23677	IP3KA_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	5	1113	+		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)	354					Q8TAN3	Missense_Mutation	SNP	ENST00000260386.5	37	c.1060C>G	CCDS10076.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.540478	0.45176	.	.	ENSG00000137825	ENST00000425927;ENST00000260386	T;T	0.13538	2.58;2.58	4.8	4.8	0.61643	.	0.117980	0.56097	D	0.000022	T	0.11965	0.0291	L	0.38531	1.155	0.49582	D	0.999804	B	0.30889	0.299	B	0.24701	0.055	T	0.08186	-1.0734	10	0.35671	T	0.21	-0.7184	15.1673	0.72840	0.0:1.0:0.0:0.0	.	354	P23677	IP3KA_HUMAN	E	249;354	ENSP00000396560:Q249E;ENSP00000260386:Q354E	ENSP00000260386:Q354E	Q	+	1	0	ITPKA	39581943	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.578000	0.53892	2.497000	0.84241	0.655000	0.94253	CAG		0.617	ITPKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252695.3	NM_002220		28	43	0	0	0	1	0	28	43					G	41794651	C	G	41794651	3	3	23	1	0	0	0	0	1	0	0	0	7926	711	25	5	1078	5	ITPKA	15	41794651	Missense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08		41794651	60736741	63	2458										
NOMO1	23420	broad.mit.edu	37	chr16	14980689	14980689	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	cttggccagtccctgttcttCcatttccccccactgctcag	6	18	2	0			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr16:14980689C>T	ENST00000287667.7	+	28	3465	c.3294C>T	c.(3292-3294)ttC>ttT	p.F1098F		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1098						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CCCTGTTCTTCCATTTCCCCC	0.473																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3292-3294)ttC>ttT		NODAL modulator 1							150	145	147					16																	14980689		2197	4300	6497	SO:0001819	synonymous_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14980689C>T	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3294C>T	16.37:g.14980689C>T			Somatic					p.F1098F	NM_014287.3	NP_055102.3	WXS	Illumina GAIIx	Phase_I	Q15155	NOMO1_HUMAN			28	3465	+			1098					P78421|Q8IW21|Q96DG0	Silent	SNP	ENST00000287667.7	37	c.3294C>T	CCDS10556.1																																																																																				0.473	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			37	64	0	0	0	1	0	37	64					T	14980689	C	T	14980689	2	4	23	1	0	0	0	0	0	0	0	1	10540	854	30	3		3	NOMO1	16	14980689	Silent	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08		14980689	75374064	64	2459										
C16orf88	400506	broad.mit.edu	37	chr16	19718345	19718345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	gtacttccagctcatggcccGgtcgtagtcccgctgcagat	11	14	1	1	rs199817759	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr16:19718345G>A	ENST00000219837.7	-	5	1342	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_Missense_Mutation_p.R101W	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	422	Interaction with ZNF106. {ECO:0000250}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CTCATGGCCCGGTCGTAGTCC	0.612													G|||	44	0.00878594	0.0015	0	5008	,	,		15624	0		0	False		,,,				2504	0.0429					ENST00000219837.7																			0											c.(1264-1266)Cgg>Tgg		lysine-rich nucleolar protein 1		G	TRP/ARG	3,3757		0,3,1877	69	75	73		1264	2.1	1	16		73	11,8189		0,11,4089	yes	missense	C16orf88	NM_001012991.2	101	0,14,5966	AA,AG,GG		0.1341,0.0798,0.1171	probably-damaging	422/459	19718345	14,11946	1880	4100	5980	SO:0001583	missense	400506							g.chr16:19718345G>A	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.1264C>T	16.37:g.19718345G>A	ENSP00000219837:p.Arg422Trp		Somatic				KNOP1_ENST00000568230.1_Missense_Mutation_p.R101W|AC002550.5_ENST00000565916.1_RNA	p.R422W	NM_001012991.2	NP_001013009.2	WXS	Illumina GAIIx	Phase_I					5	1342	-								O43328|Q5FWF3	Missense_Mutation	SNP	ENST00000219837.7	37	c.1264C>T	CCDS42127.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155217	0.78114	7.98E-4	0.001341	ENSG00000103550	ENST00000219837	T	0.28069	1.63	5.4	2.11	0.27256	.	1.015940	0.07886	N	0.970402	T	0.50360	0.1611	M	0.66939	2.045	0.40393	D	0.979561	D	0.89917	1.0	D	0.74674	0.984	T	0.40664	-0.9551	9	.	.	.	-4.3788	7.3305	0.26580	0.089:0.0:0.3539:0.5571	.	422	Q1ED39	CP088_HUMAN	W	422	ENSP00000219837:R422W	.	R	-	1	2	C16orf88	19625846	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	1.833000	0.39161	0.636000	0.30508	0.563000	0.77884	CGG		0.612	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		4	112	0	0	0	1	0	4	112					A	19718345	G	A	19718345	3	1	23	1	0	0	0	0	1	0	0	0	1843	1115	39	1	116	1	C16orf88	16	19718345	Missense_Mutation	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08	4737656	19718345	70636408	65	2460										
TP53	7157	broad.mit.edu	37	chr17	7577565	7577565	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	tgccgcccatgcaggaactgTtacacatgtagttgtagtgg	12	9	0	0			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr17:7577565T>C	ENST00000269305.4	-	7	905	c.716A>G	c.(715-717)aAc>aGc	p.N239S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.N239S|TP53_ENST00000413465.2_Missense_Mutation_p.N239S|TP53_ENST00000445888.2_Missense_Mutation_p.N239S|TP53_ENST00000420246.2_Missense_Mutation_p.N239S|TP53_ENST00000455263.2_Missense_Mutation_p.N239S	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.N239S(28)|p.0?(8)|p.?(5)|p.N239T(4)|p.M237_N239delMCN(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.N239fs*25(2)|p.N239_S240delNS(2)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.N239I(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.N239fs*>48(1)|p.N146fs*>10(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)	GCAGGAACTGTTACACATGTA	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"		76	Substitution - Missense(36)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Insertion - Frameshift(4)|Substitution - Nonsense(1)|Insertion - In frame(1)|Complex - frameshift(1)|Complex - deletion inframe(1)	p.N239S(28)|p.0?(8)|p.?(5)|p.N239T(4)|p.M237_N239delMCN(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.N239fs*25(2)|p.N239_S240delNS(2)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.N239I(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.N239fs*>48(1)|p.N146fs*>10(1)|p.N239_C242del(1)	biliary_tract(10)|urinary_tract(6)|lung(6)|ovary(6)|upper_aerodigestive_tract(5)|haematopoietic_and_lymphoid_tissue(5)|oesophagus(5)|breast(5)|bone(5)|central_nervous_system(4)|large_intestine(4)|endometrium(4)|kidney(4)|stomach(3)|thyroid(1)|soft_tissue(1)|liver(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(715-717)aAc>aGc	Other conserved DNA damage response genes	tumor protein p53							135	105	115					17																	7577565		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.chr17:7577565T>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.716A>G	17.37:g.7577565T>C	ENSP00000269305:p.Asn239Ser	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.N239S|TP53_ENST00000359597.4_Missense_Mutation_p.N239S|TP53_ENST00000413465.2_Missense_Mutation_p.N239S|TP53_ENST00000445888.2_Missense_Mutation_p.N239S|TP53_ENST00000455263.2_Missense_Mutation_p.N239S	p.N239S	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	848	-		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.716A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.565663	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99760	-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	M	0.87381	2.88	0.58432	D	0.999991	D;B;D;D;D;D	0.89917	0.988;0.31;0.999;0.98;0.99;1.0	P;B;D;P;P;D	0.87578	0.826;0.104;0.981;0.815;0.891;0.998	D	0.97237	0.9888	10	0.87932	D	0	-35.9081	12.3101	0.54924	0.0:0.0:0.0:1.0	.	239;239;146;239;239;239	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	239;239;239;239;239;239;228;146;107;146	ENSP00000410739:N239S;ENSP00000352610:N239S;ENSP00000269305:N239S;ENSP00000398846:N239S;ENSP00000391127:N239S;ENSP00000391478:N239S;ENSP00000425104:N107S;ENSP00000423862:N146S	ENSP00000269305:N239S	N	-	2	0	TP53	7518290	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		59	4	0	0	0	1	0	59	4					C	7577565	T	C	7577565	3	2	23	1	0	0	0	0	1	0	0	0	16396	1725	60	4	574	4	TP53	17	7577565	Missense_Mutation	SNP	T	TCGA-N7-A4Y8-01A-11D-A28R-08		7577565	73617645	66	2461										
CRLF1	9244	broad.mit.edu	37	chr19	18707437	18707437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	taggagggtgctcaccactgCggggagtggaggcggctgtg	20	8	1	0			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr19:18707437C>T	ENST00000392386.3	-	6	1212	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	CRLF1_ENST00000594325.1_5'Flank	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	340	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> C (in CISS1). {ECO:0000269|PubMed:24488861}.		negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CTCACCACTGCGGGGAGTGGA	0.552																																						ENST00000392386.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(1018-1020)cGc>cAc		cytokine receptor-like factor 1							21	25	24					19																	18707437		2201	4299	6500	SO:0001583	missense	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18707437C>T	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"Fibronectin type III domain containing"	2364	protein-coding gene	gene with protein product	"cold-induced sweating syndrome"	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.1019G>A	19.37:g.18707437C>T	ENSP00000376188:p.Arg340His		Somatic					p.R340H	NM_004750.4	NP_004741.1	WXS	Illumina GAIIx	Phase_I	O75462	CRLF1_HUMAN			6	1212	-			340					Q9UHH5	Missense_Mutation	SNP	ENST00000392386.3	37	c.1019G>A	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844209	0.32606	.	.	ENSG00000006016	ENST00000392386	T	0.81247	-1.47	4.98	4.98	0.66077	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.184484	0.26560	N	0.023697	T	0.57681	0.2070	N	0.01576	-0.805	0.31506	N	0.664169	B	0.16166	0.016	B	0.06405	0.002	T	0.56956	-0.7893	10	0.25751	T	0.34	-40.9263	16.1059	0.81220	0.0:1.0:0.0:0.0	.	340	O75462	CRLF1_HUMAN	H	340	ENSP00000376188:R340H	ENSP00000376188:R340H	R	-	2	0	CRLF1	18568437	0.883000	0.30277	0.978000	0.43139	0.876000	0.50452	2.358000	0.44134	2.501000	0.84356	0.555000	0.69702	CGC		0.552	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			13	32	0	0	0	1	0	13	32					T	18707437	C	T	18707437	3	4	23	1	0	0	0	0	1	0	0	0	3888	768	27	1	265	1	CRLF1	19	18707437	Missense_Mutation	SNP	C	TCGA-N7-A4Y8-01A-11D-A28R-08		18707437	40421546	67	2462										
PLXNB2	23654	broad.mit.edu	37	chr22	50719352	50719360	+	In_Frame_Del	DEL	TGCCGGCCT	TGCCGGCCT	-													0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	cttgtagtccagcacggggaTgccggcctcgtgcacgtcgt					rs199976514		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr22:50719352_50719360delTGCCGGCCT	ENST00000449103.1	-	24	3946_3954	c.3806_3814delAGGCCGGCA	c.(3805-3816)gaggccggcatc>gtc	p.1269_1272EAGI>V	PLXNB2_ENST00000359337.4_In_Frame_Del_p.1269_1272EAGI>V|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1269					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)		AGCACGGGGATGCCGGCCTCGTGCACGTC	0.646																																						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.(3805-3816)gtc>g		plexin B2																																				SO:0001651	inframe_deletion	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50719352_50719360delTGCCGGCCT		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.3806_3814delAGGCCGGCA	22.37:g.50719352_50719360delTGCCGGCCT	ENSP00000409171:p.Glu1269_Ile1272delinsVal		Somatic				PLXNB2_ENST00000359337.4_In_Frame_Del_p.EAGI1269del	p.EAGI1269del			WXS	Illumina GAIIx	Phase_I	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	24	3946_3954	-		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)	1269					A6QRH0|Q7KZU3|Q9BSU7	In_Frame_Del	DEL	ENST00000449103.1	37	c.3806_3814delAGGCCGGCA	CCDS43035.1																																																																																				0.646	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		24	5						24	5	---	---	---	---	-	50719360	TGCCGGCCT	-	50719352	7	5	23	1	0	1	0	1	0	0	0	0	12133	1464	51	0	1758	0	PLXNB2	22	50719352	In_Frame_Del	DEL	TGCCGGCCT	TCGA-N7-A4Y8-01A-11D-A28R-08		50719352	585214	68	2463										
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	19	5	1	2	rs143435240		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A			Somatic				NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	WXS	Illumina GAIIx	Phase_I	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	38	0	0	0	1	0	3	38					A	51076024	G	A	51076024	2	1	23	1	0	0	0	0	0	0	0	1	10735	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-N7-A4Y8-01A-11D-A28R-08		51076024	104194536	69	2464										
HTATSF1	27336	broad.mit.edu	37	chrX	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-													0.0428571428571429	3	1	0.686126704089816	0	0.776406533575318	0.142857142857143	0.605042016806723	0	agggagaatatgatgcctcaAagaagaagaagaagtgcaaa							TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chrX:135585048_135585050delAAG	ENST00000218364.4	+	5	856_858	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.K232del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				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)					TGATGCCTCAAAGAAGAAGAAGA	0.335																																						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.(682-684)del		HIV-1 Tat specific factor 1																																				SO:0001651	inframe_deletion	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:135585048_135585050delAAG	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.682_684delAAG	X.37:g.135585057_135585059delAAG	ENSP00000218364:p.Lys232del		Somatic				HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	p.K232del	NM_001163280.1	NP_001156752.1	WXS	Illumina GAIIx	Phase_I	O43719	HTSF1_HUMAN			6	1104_1106	+	Acute lymphoblastic leukemia(192;0.000127)		232			Poly-Lys.		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	ENST00000218364.4	37	c.682_684delAAG	CCDS14657.1																																																																																				0.335	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		7	90						7	90	---	---	---	---	-	135585050	AAG	-	135585048	7	5	23	1	0	1	0	1	0	0	0	0	7442	15	1	0	700	0	HTATSF1	23	135585048	In_Frame_Del	DEL	AAG	TCGA-N7-A4Y8-01A-11D-A28R-08	84509024	135585048	19685512	70	2465										
USP1	7398	broad.mit.edu	37	chr1	62908931	62908931	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	caggctagttttctcttaaaTccagagaaatatactgatga	7	7	1	3			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr1:62908931T>A	ENST00000339950.4	+	5	1313	c.498T>A	c.(496-498)aaT>aaA	p.N166K	USP1_ENST00000371146.1_Missense_Mutation_p.N166K	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	166	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)		TTCTCTTAAATCCAGAGAAAT	0.368																																					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.(496-498)aaT>aaA		ubiquitin specific peptidase 1							87	87	87					1																	62908931		2203	4300	6503	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.chr1:62908931T>A		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.498T>A	1.37:g.62908931T>A	ENSP00000343526:p.Asn166Lys		Somatic				USP1_ENST00000371146.1_Missense_Mutation_p.N166K	p.N166K	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)	5	1313	+		all_neural(321;0.0281)	166					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	c.498T>A	CCDS621.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146038	0.77888	.	.	ENSG00000162607	ENST00000452143;ENST00000371146;ENST00000339950	T;T;T	0.49139	0.79;0.79;0.79	5.55	3.13	0.36017	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.55641	0.1933	L	0.52573	1.65	0.51767	D	0.999936	D	0.65815	0.995	D	0.65443	0.935	T	0.52601	-0.8554	10	0.41790	T	0.15	-22.8829	8.2542	0.31746	0.0:0.2842:0.0:0.7158	.	166	O94782	UBP1_HUMAN	K	166	ENSP00000403662:N166K;ENSP00000360188:N166K;ENSP00000343526:N166K	ENSP00000343526:N166K	N	+	3	2	USP1	62681519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.025000	0.30090	1.082000	0.41137	0.533000	0.62120	AAT		0.368	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		30	37	0	0	0	1	0	30	37					A	62908931	T	A	62908931	3	1	24	1	0	0	0	0	1	0	0	0	17055	1432	50	4	512	4	USP1	1	62908931	Missense_Mutation	SNP	T	TCGA-N7-A59B-01A-11D-A28R-08		62908931	186341690	1	2466										
USP1	7398	broad.mit.edu	37	chr1	62910418	62910418	+	Frame_Shift_Del	DEL	C	C	-													0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	tttatttatagggaactcaaCcctatgtatgaaggatatct							TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr1:62910418delC	ENST00000339950.4	+	6	1382	c.567delC	c.(565-567)aacfs	p.N189fs	USP1_ENST00000371146.1_Frame_Shift_Del_p.N189fs	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	189	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)		GGGAACTCAACCCTATGTATG	0.303																																					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.(565-567)aafs		ubiquitin specific peptidase 1							51	57	55					1																	62910418		2203	4300	6503	SO:0001589	frameshift_variant	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.chr1:62910418delC		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.567delC	1.37:g.62910418delC	ENSP00000343526:p.Asn189fs		Somatic				USP1_ENST00000371146.1_Frame_Shift_Del_p.N189fs	p.N189fs	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	1382	+		all_neural(321;0.0281)	189					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Frame_Shift_Del	DEL	ENST00000339950.4	37	c.567delC	CCDS621.1																																																																																				0.303	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		27	39						27	39	---	---	---	---	-	62910418	C	-	62910418	7	5	24	1	0	1	0	1	0	0	0	0	17055	506	18	0	585	0	USP1	1	62910418	Frame_Shift_Del	DEL	C	TCGA-N7-A59B-01A-11D-A28R-08	1487	62910418	186340203	2	2467										
ASPM	259266	broad.mit.edu	37	chr1	197071386	197071386	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	tagcagccctgtgcatctctCgcatccttttccttatcatc	5	15	2	0			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr1:197071386C>A	ENST00000367409.4	-	18	7251	c.6995G>T	c.(6994-6996)cGa>cTa	p.R2332L	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2332	IQ 22. {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)				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						GTGCATCTCTCGCATCCTTTT	0.403																																						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.(6994-6996)cGa>cTa		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							144	135	138					1																	197071386		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197071386C>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.6995G>T	1.37:g.197071386C>A	ENSP00000356379:p.Arg2332Leu		Somatic				ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.R2332L	NM_018136.4	NP_060606.3	WXS	Illumina GAIIx	Phase_I	Q8IZT6	ASPM_HUMAN			18	7251	-			2332			IQ 22.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.6995G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	c	12.44	1.937789	0.34189	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.72725	-0.68	4.33	-0.951	0.10369	.	0.624337	0.14751	N	0.300618	T	0.73961	0.3654	L	0.55481	1.735	0.09310	N	1	D;P	0.61697	0.99;0.944	D;P	0.70716	0.97;0.84	T	0.64377	-0.6422	10	0.17369	T	0.5	.	8.6355	0.33945	0.0:0.3592:0.0:0.6408	.	318;2332	E7EQ84;Q8IZT6	.;ASPM_HUMAN	L	2332;318	ENSP00000356379:R2332L	ENSP00000356376:R318L	R	-	2	0	ASPM	195338009	0.000000	0.05858	0.000000	0.03702	0.934000	0.57294	-0.231000	0.09069	-0.256000	0.09473	-0.496000	0.04628	CGA		0.403	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		40	44	1	0	5.43694e-19	1	6.37434e-19	40	44					A	197071386	C	A	197071386	3	1	24	1	0	0	0	0	1	0	0	0	1056	884	31	2	3482	2	ASPM	1	197071386	Missense_Mutation	SNP	C	TCGA-N7-A59B-01A-11D-A28R-08	134160968	197071386	52179235	3	2468										
C1orf106	55765	broad.mit.edu	37	chr1	200881172	200881172	+	Frame_Shift_Del	DEL	C	C	-													0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	gcacgcctccggagcacccgCccccactcactggaccgcca					rs296521	byFrequency	TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr1:200881172delC	ENST00000367342.4	+	9	2006	c.1806delC	c.(1804-1806)cgcfs	p.R602fs	C1orf106_ENST00000465162.1_3'UTR|C1orf106_ENST00000413687.2_Frame_Shift_Del_p.R517fs	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	602										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GGAGCACCCGCCCCCACTCAC	0.716																																						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.(1804-1806)cgfs		chromosome 1 open reading frame 106							2	4	3					1																	200881172		1537	3096	4633	SO:0001589	frameshift_variant	55765							g.chr1:200881172delC	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.1806delC	1.37:g.200881172delC	ENSP00000356311:p.Arg602fs		Somatic				C1orf106_ENST00000413687.2_Frame_Shift_Del_p.R517fs|C1orf106_ENST00000465162.1_3'UTR	p.R602fs	NM_018265.3	NP_060735.3	WXS	Illumina GAIIx	Phase_I	Q3KP66	CA106_HUMAN			9	2006	+			602					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Frame_Shift_Del	DEL	ENST00000367342.4	37	c.1806delC																																																																																					0.716	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		2	4						2	4	---	---	---	---	-	200881172	C	-	200881172	7	5	24	1	0	1	0	1	0	0	0	0	1982	726	26	0	1840	0	C1orf106	1	200881172	Frame_Shift_Del	DEL	C	TCGA-N7-A59B-01A-11D-A28R-08	3809786	200881172	48369449	4	2469										
CABC1	56997	broad.mit.edu	37	chr1	227174205	227174205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	tcatcctgggggaggccttcGcctctgatgagccttttgat	12	11	2	3			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr1:227174205G>A	ENST00000366779.1	+	20	4482	c.1711G>A	c.(1711-1713)Gcc>Acc	p.A571T	ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000433743.2_Missense_Mutation_p.A245T|ADCK3_ENST00000458507.2_Missense_Mutation_p.A292T|ADCK3_ENST00000366778.1_Missense_Mutation_p.A519T|ADCK3_ENST00000366777.3_Missense_Mutation_p.A571T			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	571					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						GGAGGCCTTCGCCTCTGATGA	0.592																																						ENST00000366779.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(1711-1713)Gcc>Acc		aarF domain containing kinase 3							96	94	95					1																	227174205		2203	4300	6503	SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227174205G>A	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"coenzyme Q8 homolog (yeast)"	606980	"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1711G>A	1.37:g.227174205G>A	ENSP00000355741:p.Ala571Thr		Somatic				ADCK3_ENST00000366775.1_Missense_Mutation_p.A416T|ADCK3_ENST00000458507.2_Missense_Mutation_p.A292T|ADCK3_ENST00000433743.2_Missense_Mutation_p.A245T|ADCK3_ENST00000366777.3_Missense_Mutation_p.A571T|ADCK3_ENST00000366776.1_Missense_Mutation_p.A496T|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366778.1_Missense_Mutation_p.A519T	p.A571T			WXS	Illumina GAIIx	Phase_I	Q8NI60	ADCK3_HUMAN			20	4482	+			571					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	c.1711G>A	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748000	0.49257	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743;ENST00000433743	T;T;T;T;T;T;T	0.75154	-0.8;-0.77;-0.8;-0.91;-0.5;-0.89;-0.79	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.76162	0.3949	M	0.76574	2.34	0.58432	D	0.999997	P;P	0.48640	0.786;0.913	B;B	0.42995	0.155;0.404	T	0.73372	-0.4003	10	0.14656	T	0.56	-25.023	20.2079	0.98282	0.0:0.0:1.0:0.0	.	245;571	E7EVZ8;Q8NI60	.;ADCK3_HUMAN	T	571;519;571;496;292;416;522;245	ENSP00000355741:A571T;ENSP00000355740:A519T;ENSP00000355739:A571T;ENSP00000355738:A496T;ENSP00000403704:A292T;ENSP00000355737:A416T;ENSP00000404550:A245T	ENSP00000355737:A416T	A	+	1	0	ADCK3	225240828	0.998000	0.40836	1.000000	0.80357	0.772000	0.43724	2.632000	0.46511	2.781000	0.95711	0.655000	0.94253	GCC		0.592	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		32	41	0	0	0	1	0	32	41					A	227174205	G	A	227174205	3	1	24	1	0	0	0	0	1	0	0	0	2529	1087	38	1	1765	1	CABC1	1	227174205	Missense_Mutation	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08	26293033	227174205	22076416	5	2470										
MYT1L	23040	broad.mit.edu	37	chr2	1946857	1946859	+	In_Frame_Del	DEL	CTC	CTC	-													0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	tcctcatcctcctcctcgatCtcctcctcctcctcccggtc							TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr2:1946857_1946859delCTC	ENST00000399161.2	-	9	1147_1149	c.400_402delGAG	c.(400-402)gagdel	p.E134del	MYT1L_ENST00000428368.2_In_Frame_Del_p.E134del	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	134	Asp/Glu-rich.				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)		cctcctcgatctcctcctcctcc	0.576																																						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.(400-402)del		myelin transcription factor 1-like				33,3907		4,25,1941						0	0			94	58,7582		7,44,3769	no	coding	MYT1L	NM_015025.2		11,69,5710	A1A1,A1R,RR		0.7592,0.8376,0.7858				91,11489				SO:0001651	inframe_deletion	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1946857_1946859delCTC	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.400_402delGAG	2.37:g.1946866_1946868delCTC	ENSP00000382114:p.Glu134del		Somatic				MYT1L_ENST00000428368.2_In_Frame_Del_p.E134del	p.E134del	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)	9	1147_1149	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	134			Asp/Glu-rich.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	In_Frame_Del	DEL	ENST00000399161.2	37	c.400_402delGAG																																																																																					0.576	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		4	4						4	4	---	---	---	---	-	1946859	CTC	-	1946857	7	5	24	1	0	1	0	1	0	0	0	0	10116	912	32	0	3220	0	MYT1L	2	1946857	In_Frame_Del	DEL	CTC	TCGA-N7-A59B-01A-11D-A28R-08		1946857	241252516	6	2471										
ROCK2	9475	broad.mit.edu	37	chr2	11426743	11426743	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	gccttcatctgtagacctctGatttttttcacaattttctc	4	11	5	2			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr2:11426743G>C	ENST00000315872.6	-	3	694	c.246C>G	c.(244-246)atC>atG	p.I82M	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	82					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)		GTAGACCTCTGATTTTTTTCA	0.279																																						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.(244-246)atC>atG		Rho-associated, coiled-coil containing protein kinase 2							181	167	171					2																	11426743		1818	4084	5902	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.chr2:11426743G>C	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.246C>G	2.37:g.11426743G>C	ENSP00000317985:p.Ile82Met		Somatic				ROCK2_ENST00000462366.1_5'UTR	p.I82M	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)	3	694	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		82					Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.246C>G	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714074	0.30413	.	.	ENSG00000134318	ENST00000315872	T	0.64085	-0.08	4.61	1.75	0.24633	Protein kinase-like domain (1);	0.119410	0.53938	D	0.000041	T	0.57784	0.2077	M	0.67700	2.07	0.39739	D	0.971729	B	0.16802	0.019	B	0.21917	0.037	T	0.58747	-0.7582	10	0.62326	D	0.03	.	9.8226	0.40891	0.2538:0.0:0.7462:0.0	.	82	O75116	ROCK2_HUMAN	M	82	ENSP00000317985:I82M	ENSP00000261535:I82M	I	-	3	3	ROCK2	11344194	0.915000	0.31059	1.000000	0.80357	0.995000	0.86356	-0.018000	0.12568	0.494000	0.27859	-0.136000	0.14681	ATC		0.279	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			42	196	0	0	0	1	0	42	196					C	11426743	G	C	11426743	3	2	24	1	0	0	0	0	1	0	0	0	13533	1280	45	2	4044	2	ROCK2	2	11426743	Missense_Mutation	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08	9479886	11426743	231772630	7	2472										
TTC27	55622	broad.mit.edu	37	chr2	33036105	33036105	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	tttaaggtccttaaaattctAgtcagggcagtgattgatgg	11	5	2	2			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr2:33036105A>T	ENST00000317907.4	+	17	2244	c.2013A>T	c.(2011-2013)ctA>ctT	p.L671L		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	671										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TTAAAATTCTAGTCAGGGCAG	0.403																																						ENST00000317907.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2011-2013)ctA>ctT		tetratricopeptide repeat domain 27							92	89	90					2																	33036105		2203	4300	6503	SO:0001819	synonymous_variant	55622						protein binding	g.chr2:33036105A>T	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"Tetratricopeptide (TTC) repeat domain containing"	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.2013A>T	2.37:g.33036105A>T			Somatic					p.L671L	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	WXS	Illumina GAIIx	Phase_I	Q6P3X3	TTC27_HUMAN			17	2244	+			671					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Silent	SNP	ENST00000317907.4	37	c.2013A>T	CCDS33176.1																																																																																				0.403	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		34	80	0	0	0	1	0	34	80					T	33036105	A	T	33036105	2	4	24	1	0	0	0	0	0	0	0	1	16710	407	15	4		4	TTC27	2	33036105	Silent	SNP	A	TCGA-N7-A59B-01A-11D-A28R-08	21609362	33036105	210163268	8	2473										
GPR45	11250	broad.mit.edu	37	chr2	105859066	105859066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	cgggcctgcggcgcctgcagCggcagcaacaggtcagcgtg	17	14	1	0	rs112504064		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr2:105859066C>T	ENST00000258456.1	+	1	867	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GCGCCTGCAGCGGCAGCAACA	0.652																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(751-753)Cgg>Tgg		G protein-coupled receptor 45		C	TRP/ARG	0,4406		0,0,2203	92	99	97		751	3.2	0.5	2	dbSNP_132	97	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR45	NM_007227.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	251/373	105859066	1,13005	2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859066C>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"GPCR / Class A : Orphans"	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.751C>T	2.37:g.105859066C>T	ENSP00000258456:p.Arg251Trp		Somatic					p.R251W	NM_007227.3	NP_009158.3	WXS	Illumina GAIIx	Phase_I	Q9Y5Y3	GPR45_HUMAN			1	867	+			251					Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.751C>T	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213620	0.58452	0.0	1.16E-4	ENSG00000135973	ENST00000258456	T	0.75589	-0.95	5.1	3.21	0.36854	GPCR, rhodopsin-like superfamily (1);	0.070228	0.53938	D	0.000041	D	0.86997	0.6068	M	0.88640	2.97	0.41755	D	0.989689	D	0.89917	1.0	D	0.77557	0.99	D	0.89462	0.3737	10	0.87932	D	0	-18.0026	13.1584	0.59531	0.5291:0.4709:0.0:0.0	.	251	Q9Y5Y3	GPR45_HUMAN	W	251	ENSP00000258456:R251W	ENSP00000258456:R251W	R	+	1	2	GPR45	105225498	1.000000	0.71417	0.538000	0.28064	0.795000	0.44927	1.583000	0.36579	1.136000	0.42199	0.462000	0.41574	CGG		0.652	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		82	77	0	0	0	1	0	82	77					T	105859066	C	T	105859066	3	4	24	1	0	0	0	0	1	0	0	0	6704	759	27	1	753	1	GPR45	2	105859066	Missense_Mutation	SNP	C	TCGA-N7-A59B-01A-11D-A28R-08	72822961	105859066	137340307	9	2474										
DZIP3	9666	broad.mit.edu	37	chr3	108373036	108373036	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	gcagttgaggaaagaacaagCaaatccacactcagtcagta	9	9	2	2			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr3:108373036C>A	ENST00000361582.3	+	19	2308	c.2078C>A	c.(2077-2079)gCa>gAa	p.A693E	DZIP3_ENST00000463306.1_Missense_Mutation_p.A693E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	693					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAAGAACAAGCAAATCCACAC	0.373																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(2077-2079)gCa>gAa		DAZ interacting zinc finger protein 3							148	130	136					3																	108373036		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108373036C>A	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.2078C>A	3.37:g.108373036C>A	ENSP00000355028:p.Ala693Glu		Somatic				DZIP3_ENST00000463306.1_Missense_Mutation_p.A693E	p.A693E	NM_014648.3	NP_055463.1	WXS	Illumina GAIIx	Phase_I	Q86Y13	DZIP3_HUMAN			19	2308	+			693					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.2078C>A	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	8.126	0.781979	0.16189	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.30182	1.54;1.54	4.81	-4.14	0.03892	.	1.626760	0.03459	N	0.211999	T	0.15869	0.0382	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19128	-1.0315	10	0.02654	T	1	0.4939	0.4428	0.00489	0.2614:0.1864:0.1562:0.396	.	311;693	D3DN61;Q86Y13	.;DZIP3_HUMAN	E	693	ENSP00000355028:A693E;ENSP00000419981:A693E	ENSP00000355028:A693E	A	+	2	0	DZIP3	109855726	0.011000	0.17503	0.009000	0.14445	0.775000	0.43874	-1.083000	0.03397	-0.691000	0.05135	0.585000	0.79938	GCA		0.373	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		36	59	1	0	6.05902e-23	1	7.2283e-23	36	59					A	108373036	C	A	108373036	3	1	24	1	0	0	0	0	1	0	0	0	4867	710	25	5	2148	5	DZIP3	3	108373036	Missense_Mutation	SNP	C	TCGA-N7-A59B-01A-11D-A28R-08		108373036	89649394	10	2475										
PIK3CA	5290	broad.mit.edu	37	chr3	178916930	178916930	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	aaaagtaattgaaccagtagGcaaccgtgaagaaaagatcc	9	7	0	4			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr3:178916930G>T	ENST00000263967.3	+	2	474	c.317G>T	c.(316-318)gGc>gTc	p.G106V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	106			G -> V (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity).		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.G106V(6)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.G106A(1)|p.E103_G106>D(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)	GAACCAGTAGGCAACCGTGAA	0.348		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"		12	Substitution - Missense(7)|Deletion - In frame(4)|Complex - deletion inframe(1)	p.G106V(6)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.G106A(1)|p.E103_G106>D(1)	lung(4)|large_intestine(3)|breast(3)|endometrium(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.(316-318)gGc>gTc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							90	86	87					3																	178916930		1825	4072	5897	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.chr3:178916930G>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.317G>T	3.37:g.178916930G>T	ENSP00000263967:p.Gly106Val	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.G106V	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)		2	474	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		106		G -> V (in cancer; shows an increase in lipid kinase activity).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.317G>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216426	0.79352	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74421	0.67;-0.84	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.86928	0.6051	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86624	0.1881	9	.	.	.	-7.432	19.4271	0.94746	0.0:0.0:1.0:0.0	.	106	P42336	PK3CA_HUMAN	V	106	ENSP00000263967:G106V;ENSP00000417479:G106V	.	G	+	2	0	PIK3CA	180399624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.563000	0.82314	2.584000	0.87258	0.555000	0.69702	GGC		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			102	38	1	0	3.37413e-40	1	4.09715e-40	102	38					T	178916930	G	T	178916930	3	4	24	1	0	0	0	0	1	0	0	0	11922	1203	42	5	319	5	PIK3CA	3	178916930	Missense_Mutation	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08	70543894	178916930	19105500	11	2476										
RNASEN	29102	broad.mit.edu	37	chr5	31464365	31464365	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	gacagacatcagaacggatgCcagttttccagaatccttgg	10	10	1	3			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr5:31464365C>A	ENST00000511367.2	-	19	2796	c.2552G>T	c.(2551-2553)gGc>gTc	p.G851V	DROSHA_ENST00000344624.3_Missense_Mutation_p.G851V|DROSHA_ENST00000513349.1_Missense_Mutation_p.G814V|DROSHA_ENST00000442743.1_Missense_Mutation_p.G814V	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	851	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGAACGGATGCCAGTTTTCCA	0.428																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(2551-2553)gGc>gTc		drosha, ribonuclease type III							102	100	100					5																	31464365		1889	4121	6010	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31464365C>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2552G>T	5.37:g.31464365C>A	ENSP00000425979:p.Gly851Val		Somatic				DROSHA_ENST00000442743.1_Missense_Mutation_p.G814V|DROSHA_ENST00000344624.3_Missense_Mutation_p.G851V|DROSHA_ENST00000513349.1_Missense_Mutation_p.G814V	p.G851V	NM_013235.4	NP_037367.3	WXS	Illumina GAIIx	Phase_I	Q9NRR4	RNC_HUMAN			19	2796	-			851			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.2552G>T	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045946	0.93685	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;D;D	0.82255	-0.94;-0.94;-1.59;-1.59	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.91529	0.7325	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91470	0.5196	10	0.87932	D	0	-15.8368	20.3248	0.98698	0.0:1.0:0.0:0.0	.	814;851	E7EMP9;Q9NRR4	.;RNC_HUMAN	V	851;851;814;814;776;807	ENSP00000425979:G851V;ENSP00000339845:G851V;ENSP00000409335:G814V;ENSP00000424161:G814V	ENSP00000265075:G776V	G	-	2	0	DROSHA	31500122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.360000	0.79487	2.818000	0.97014	0.655000	0.94253	GGC		0.428	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		13	27	1	0	3.45872e-05	1	3.79343e-05	13	27					A	31464365	C	A	31464365	3	1	24	1	0	0	0	0	1	0	0	0	13432	739	26	5	1640	5	RNASEN	5	31464365	Missense_Mutation	SNP	C	TCGA-N7-A59B-01A-11D-A28R-08		31464365	149450895	12	2477										
NPM1	4869	broad.mit.edu	37	chr5	170819814	170819814	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	cctggaggtggtagcaaggtTccacaggtagagatggcaat	15	7	0	1			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr5:170819814T>A	ENST00000296930.5	+	5	754	c.453T>A	c.(451-453)gtT>gtA	p.V151V	NPM1_ENST00000393820.2_Silent_p.V151V|NPM1_ENST00000351986.6_Silent_p.V151V|NPM1_ENST00000517671.1_Silent_p.V151V	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	151	Required for interaction with SENP3.				cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTAGCAAGGTTCCACAGGTAG	0.408			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	ENST00000296930.5				Dom	yes		5	5q35	4869	"T, F "	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"			L	"ALK, RARA, MLF1"		"NHL, APL, AML"	NPM1/ALK(632)	0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269						c.(451-453)gtT>gtA		nucleophosmin (nucleolar phosphoprotein B23, numatrin)							142	168	159					5																	170819814		2202	4300	6502	SO:0001819	synonymous_variant	4869				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	g.chr5:170819814T>A	M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.453T>A	5.37:g.170819814T>A			Somatic				NPM1_ENST00000393820.2_Silent_p.V151V|NPM1_ENST00000351986.6_Silent_p.V151V|NPM1_ENST00000517671.1_Silent_p.V151V	p.V151V	NM_002520.6	NP_002511.1	WXS	Illumina GAIIx	Phase_I	P06748	NPM_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	754	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	151			Required for interaction with SENP3.		A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Silent	SNP	ENST00000296930.5	37	c.453T>A	CCDS4376.1																																																																																				0.408	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252858.2	NM_002520		37	64	0	0	0	1	0	37	64					A	170819814	T	A	170819814	2	1	24	1	0	0	0	0	0	0	0	1	10596	1770	62	4		4	NPM1	5	170819814	Silent	SNP	T	TCGA-N7-A59B-01A-11D-A28R-08	139355449	170819814	10095446	13	2478										
C5orf41	153222	broad.mit.edu	37	chr5	172513552	172513552	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	tcggggatgcctttcgaagcCacaccttttcggaacaaact	9	12	0	0			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr5:172513552C>G	ENST00000296953.2	+	3	377	c.58C>G	c.(58-60)Cac>Gac	p.H20D	CREBRF_ENST00000540014.1_Missense_Mutation_p.H20D|CREBRF_ENST00000522692.1_Missense_Mutation_p.H20D|CREBRF_ENST00000520420.1_Missense_Mutation_p.H20D	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	20					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTTTCGAAGCCACACCTTTTC	0.408																																						ENST00000540014.1																			0											c.(58-60)Cac>Gac		CREB3 regulatory factor							150	140	143					5																	172513552		2203	4300	6503	SO:0001583	missense	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172513552C>G	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"luman/CREB3 recruitment factor"		"chromosome 5 open reading frame 41"	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.58C>G	5.37:g.172513552C>G	ENSP00000296953:p.His20Asp		Somatic				CREBRF_ENST00000520420.1_Missense_Mutation_p.H20D|CREBRF_ENST00000296953.2_Missense_Mutation_p.H20D|CREBRF_ENST00000522692.1_Missense_Mutation_p.H20D	p.H20D			WXS	Illumina GAIIx	Phase_I	Q8IUR6	CE041_HUMAN			3	377	+			20					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	c.58C>G	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377604	0.42105	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000523161;ENST00000538538;ENST00000393776	T;T	0.44083	0.93;0.93	5.77	5.77	0.91146	.	0.099522	0.64402	D	0.000001	T	0.34395	0.0896	N	0.14661	0.345	0.48288	D	0.999629	P;P	0.35982	0.531;0.531	B;B	0.38500	0.106;0.275	T	0.13926	-1.0491	10	0.45353	T	0.12	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	20;20	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	D	20	ENSP00000296953:H20D;ENSP00000440075:H20D	ENSP00000296953:H20D	H	+	1	0	C5orf41	172446158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.314000	0.65804	2.885000	0.99019	0.655000	0.94253	CAC		0.408	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607		50	27	0	0	0	1	0	50	27					G	172513552	C	G	172513552	3	3	24	1	0	0	0	0	1	0	0	0	2302	594	21	5	64	5	C5orf41	5	172513552	Missense_Mutation	SNP	C	TCGA-N7-A59B-01A-11D-A28R-08	1693738	172513552	8401708	14	2479										
BTN3A3	10384	broad.mit.edu	37	chr6	26448652	26448652	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	aagaaatgggatacgctgcaAcagagcaagaaataagccta	10	7	0	3			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr6:26448652A>G	ENST00000244519.2	+	6	1135	c.892A>G	c.(892-894)Aca>Gca	p.T298A	BTN3A3_ENST00000339789.4_Missense_Mutation_p.T256A|BTN3A3_ENST00000361232.3_Missense_Mutation_p.T256A	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	298					T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ATACGCTGCAACAGAGCAAGA	0.498																																						ENST00000244519.2																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(892-894)Aca>Gca		butyrophilin, subfamily 3, member A3							70	74	73					6																	26448652		2203	4300	6503	SO:0001583	missense	10384					integral to membrane		g.chr6:26448652A>G	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.892A>G	6.37:g.26448652A>G	ENSP00000244519:p.Thr298Ala		Somatic				BTN3A3_ENST00000339789.4_Missense_Mutation_p.T256A|BTN3A3_ENST00000361232.3_Missense_Mutation_p.T256A	p.T298A	NM_006994.4	NP_008925.1	WXS	Illumina GAIIx	Phase_I	O00478	BT3A3_HUMAN			6	1135	+			298					B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.892A>G	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.622505	0.00820	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232	T;T;T	0.36340	1.33;1.26;1.26	1.42	0.148	0.14843	.	.	.	.	.	T	0.03520	0.0101	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.41645	-0.9497	9	0.15066	T	0.55	.	1.5211	0.02516	0.4914:0.0:0.2005:0.3081	.	256;298	E9PCP5;O00478	.;BT3A3_HUMAN	A	298;256;256	ENSP00000244519:T298A;ENSP00000344968:T256A;ENSP00000355238:T256A	ENSP00000244519:T298A	T	+	1	0	BTN3A3	26556631	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.001000	0.12947	0.027000	0.15297	-0.757000	0.03467	ACA		0.498	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		23	39	0	0	0	1	0	23	39					G	26448652	A	G	26448652	3	3	24	1	0	0	0	0	1	0	0	0	1566	43	2	4	906	4	BTN3A3	6	26448652	Missense_Mutation	SNP	A	TCGA-N7-A59B-01A-11D-A28R-08		26448652	144666415	15	2480										
ZKSCAN3	80317	broad.mit.edu	37	chr6	28333707	28333707	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	tgaacatcacagaatccacaCtggggagaagccgtatcagt	10	10	2	3			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr6:28333707C>A	ENST00000377255.3	+	7	1559	c.1262C>A	c.(1261-1263)aCt>aAt	p.T421N	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.T273N|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.T421N	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	421					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AGAATCCACACTGGGGAGAAG	0.502																																						ENST00000377255.3																			0				kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						c.(1261-1263)aCt>aAt		zinc finger with KRAB and SCAN domains 3							59	62	61					6																	28333707		2203	4300	6503	SO:0001583	missense	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28333707C>A	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"Zinc fingers, C2H2-type", "-", "-", "-"	13853	protein-coding gene	gene with protein product		612791	"zinc finger protein 306", "zinc finger protein 309"	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.1262C>A	6.37:g.28333707C>A	ENSP00000366465:p.Thr421Asn		Somatic				ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.T273N|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.T421N	p.T421N	NM_001242894.1	NP_001229823.1	WXS	Illumina GAIIx	Phase_I	Q9BRR0	ZKSC3_HUMAN			7	1559	+			421					B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	c.1262C>A	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	23.4	4.416706	0.83449	.	.	ENSG00000189298	ENST00000252211;ENST00000341464;ENST00000377255	T;T;T	0.26067	1.76;1.76;1.76	3.97	3.97	0.46021	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34454	0.0898	M	0.75615	2.305	0.41910	D	0.990467	D	0.58268	0.982	P	0.55161	0.77	T	0.34900	-0.9810	9	0.72032	D	0.01	.	14.9853	0.71342	0.0:1.0:0.0:0.0	.	421	Q9BRR0	ZKSC3_HUMAN	N	421;273;421	ENSP00000252211:T421N;ENSP00000341883:T273N;ENSP00000366465:T421N	ENSP00000252211:T421N	T	+	2	0	ZKSCAN3	28441686	0.966000	0.33281	0.982000	0.44146	0.983000	0.72400	2.311000	0.43717	2.047000	0.60756	0.655000	0.94253	ACT		0.502	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		34	21	1	0	8.16721e-17	1	9.41305e-17	34	21					A	28333707	C	A	28333707	3	1	24	1	0	0	0	0	1	0	0	0	17703	565	20	5	1280	5	ZKSCAN3	6	28333707	Missense_Mutation	SNP	C	TCGA-N7-A59B-01A-11D-A28R-08	1885055	28333707	142781360	16	2481										
SNRPC	6631	broad.mit.edu	37	chr6	34725706	34725706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	caggttttattgtgactactGcgatacatacctcacccatg	7	11	1	1			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr6:34725706G>A	ENST00000244520.5	+	2	164	c.26G>A	c.(25-27)tGc>tAc	p.C9Y	SNRPC_ENST00000374017.3_Missense_Mutation_p.C30Y|SNRPC_ENST00000374018.1_Intron|SNRPC_ENST00000474635.1_3'UTR	NM_003093.2	NP_003084.1			small nuclear ribonucleoprotein polypeptide C											endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						TGTGACTACTGCGATACATAC	0.368																																					NSCLC(131;576 1831 5287 11175 13324)	ENST00000374017.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						c.(88-90)tGc>tAc		small nuclear ribonucleoprotein polypeptide C							231	212	218					6																	34725706		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.chr6:34725706G>A		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.26G>A	6.37:g.34725706G>A	ENSP00000244520:p.Cys9Tyr		Somatic				SNRPC_ENST00000244520.5_Missense_Mutation_p.C9Y|SNRPC_ENST00000374018.1_Intron|SNRPC_ENST00000474635.1_3'UTR	p.C30Y			WXS	Illumina GAIIx	Phase_I	P09234	RU1C_HUMAN			1	376	+			9						Missense_Mutation	SNP	ENST00000244520.5	37	c.89G>A	CCDS34436.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597232	0.87055	.	.	ENSG00000124562	ENST00000244520;ENST00000374017	.	.	.	5.54	4.68	0.58851	Zinc finger, U1-C type (1);Zinc finger, U1-type (1);Zinc finger, C2H2-type matrin (1);	0.000000	0.85682	D	0.000000	T	0.82111	0.4966	H	0.96048	3.76	0.80722	D	1	D	0.63880	0.993	P	0.59761	0.863	D	0.87994	0.2751	9	0.72032	D	0.01	.	14.0305	0.64613	0.0724:0.0:0.9276:0.0	.	9	P09234	RU1C_HUMAN	Y	9;30	.	ENSP00000244520:C9Y	C	+	2	0	SNRPC	34833684	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.284000	0.89912	1.584000	0.49913	0.655000	0.94253	TGC		0.368	SNRPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040255.1	NM_003093		20	40	0	0	0	1	0	20	40					A	34725706	G	A	34725706	3	1	24	1	0	0	0	0	1	0	0	0	14878	1319	46	3	32	3	SNRPC	6	34725706	Missense_Mutation	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08	6391999	34725706	136389361	17	2482										
CREB5	9586	broad.mit.edu	37	chr7	28610154	28610154	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	cttccaccaaccgccagatcGggtaaggagccctccttggc	10	16	0	1	rs573930655		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr7:28610154G>C	ENST00000357727.2	+	5	853	c.463G>C	c.(463-465)Ggg>Cgg	p.G155R	CREB5_ENST00000409603.1_Splice_Site_p.G122R|CREB5_ENST00000396300.2_Splice_Site_p.G148R|CREB5_ENST00000396299.2_Splice_Site_p.G122R	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	155					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						CCGCCAGATCGGGTAAGGAGC	0.572																																						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.e5+1		cAMP responsive element binding protein 5							79	71	74					7																	28610154		2203	4300	6503	SO:0001630	splice_region_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.chr7:28610154G>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.464+1G>C	7.37:g.28610154G>C			Somatic				CREB5_ENST00000409603.1_Splice_Site_p.G122_splice|CREB5_ENST00000396299.2_Splice_Site_p.G122_splice|CREB5_ENST00000396300.2_Splice_Site_p.G148_splice	p.G155_splice	NM_182898.2	NP_878901.2	WXS	Illumina GAIIx	Phase_I	Q02930	CREB5_HUMAN			5	853	+			155					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Splice_Site	SNP	ENST00000357727.2	37	c.464_splice	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320378	0.41096	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603	T;T;T;T	0.65916	-0.18;-0.17;-0.17;-0.18	5.45	5.45	0.79879	.	0.093819	0.64402	N	0.000001	T	0.78792	0.4339	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75728	-0.3216	10	0.32370	T	0.25	-14.9604	19.2936	0.94112	0.0:0.0:1.0:0.0	.	155	Q02930	CREB5_HUMAN	R	122;155;148;122	ENSP00000379593:G122R;ENSP00000350359:G155R;ENSP00000379594:G148R;ENSP00000387197:G122R	ENSP00000350359:G155R	G	+	1	0	CREB5	28576679	1.000000	0.71417	0.981000	0.43875	0.715000	0.41141	9.110000	0.94302	2.583000	0.87209	0.650000	0.86243	GGG		0.572	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904	Missense_Mutation	40	22	0	0	0	1	0	40	22					C	28610154	G	C	28610154	5	2	24	1	0	0	0	0	0	0	1	0	3862	1130	39	5	481	5	CREB5	7	28610154	Splice_Site	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08		28610154	130528509	18	2483										
C7orf43	55262	broad.mit.edu	37	chr7	99755809	99755809	+	Frame_Shift_Del	DEL	G	G	-													0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	ccccaggatcccctccccctGggggctccgaatcctggtcg							TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr7:99755809delG	ENST00000316937.3	-	1	499	c.314delC	c.(313-315)ccafs	p.P105fs	C7orf43_ENST00000394035.2_5'Flank|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000457641.1_5'Flank|C7orf43_ENST00000498638.1_5'Flank	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	105	Gly-rich.									breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCTCCCCCTGGGGGCTCCGA	0.756																																						ENST00000316937.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10						c.(313-315)cafs		chromosome 7 open reading frame 43							3	5	4					7																	99755809		1487	3219	4706	SO:0001589	frameshift_variant	55262							g.chr7:99755809delG		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.314delC	7.37:g.99755809delG	ENSP00000324741:p.Pro105fs		Somatic					p.P105fs	NM_018275.3	NP_060745.3	WXS	Illumina GAIIx	Phase_I	Q8WVR3	CG043_HUMAN			1	499	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		105			Gly-rich.		A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Frame_Shift_Del	DEL	ENST00000316937.3	37	c.314delC	CCDS5687.1																																																																																				0.756	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275		2	4						2	4	---	---	---	---	-	99755809	G	-	99755809	7	5	24	1	0	1	0	1	0	0	0	0	2395	1348	47	0	1472	0	C7orf43	7	99755809	Frame_Shift_Del	DEL	G	TCGA-N7-A59B-01A-11D-A28R-08	71145655	99755809	59382854	19	2484										
TBXAS1	6916	broad.mit.edu	37	chr7	139715631	139715631	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	caccatgaccctgagcactgGccaagcccggagaccttcaa	9	16	1	3			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr7:139715631G>A	ENST00000336425.5	+	15	1724	c.1335G>A	c.(1333-1335)tgG>tgA	p.W445*	TBXAS1_ENST00000263552.6_Nonsense_Mutation_p.W446*|TBXAS1_ENST00000411653.1_Nonsense_Mutation_p.W445*|TBXAS1_ENST00000425687.1_Nonsense_Mutation_p.W378*|TBXAS1_ENST00000416849.2_Nonsense_Mutation_p.W492*|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000414508.2_Nonsense_Mutation_p.W446*|TBXAS1_ENST00000458722.1_Nonsense_Mutation_p.W491*|TBXAS1_ENST00000448866.1_Nonsense_Mutation_p.W445*|TBXAS1_ENST00000436047.2_Nonsense_Mutation_p.W446*			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	445					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)	CTGAGCACTGGCCAAGCCCGG	0.597																																						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.(1336-1338)tgG>tgA		thromboxane A synthase 1 (platelet)							55	54	54					7																	139715631		2203	4300	6503	SO:0001587	stop_gained	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.chr7:139715631G>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	ENST00000336425.5:c.1335G>A	7.37:g.139715631G>A	ENSP00000338087:p.Trp445*		Somatic				TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000416849.2_Nonsense_Mutation_p.W492*|TBXAS1_ENST00000425687.1_Nonsense_Mutation_p.W378*|TBXAS1_ENST00000458722.1_Nonsense_Mutation_p.W491*|TBXAS1_ENST00000448866.1_Nonsense_Mutation_p.W445*|TBXAS1_ENST00000336425.5_Nonsense_Mutation_p.W445*|TBXAS1_ENST00000414508.2_Nonsense_Mutation_p.W446*|TBXAS1_ENST00000411653.1_Nonsense_Mutation_p.W445*|TBXAS1_ENST00000436047.2_Nonsense_Mutation_p.W446*	p.W446*	NM_001130966.2	NP_001124438.1	WXS	Illumina GAIIx	Phase_I	P24557	THAS_HUMAN			15	1876	+	Melanoma(164;0.0142)		445					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Nonsense_Mutation	SNP	ENST00000336425.5	37	c.1338G>A		.	.	.	.	.	.	.	.	.	.	G	37	6.358160	0.97502	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	.	.	.	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0207	0.71630	0.0:0.0:1.0:0.0	.	.	.	.	X	378;446;445;492;446;446;445;491;445	.	ENSP00000263552:W446X	W	+	3	0	TBXAS1	139362100	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	8.057000	0.89457	2.061000	0.61500	0.462000	0.41574	TGG		0.597	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			19	43	0	0	0	1	0	19	43					A	139715631	G	A	139715631	4	1	24	1	0	0	0	0	0	1	0	0	15679	1212	42	3	1522	3	TBXAS1	7	139715631	Nonsense_Mutation	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08	39959822	139715631	19423032	20	2485										
MGAM	8972	broad.mit.edu	37	chr7	141756660	141756660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	ccagcccctgcctgccttgaCataccgcaccacagggggag	11	17	0	1			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr7:141756660C>T	ENST00000549489.2	+	30	3706	c.3611C>T	c.(3610-3612)aCa>aTa	p.T1204I	MGAM_ENST00000475668.2_Missense_Mutation_p.T1204I	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1204	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)	CCTGCCTTGACATACCGCACC	0.517																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3610-3612)aCa>aTa		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						83	81	81					7																	141756660		1954	4155	6109	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.chr7:141756660C>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.3611C>T	7.37:g.141756660C>T	ENSP00000447378:p.Thr1204Ile		Somatic				MGAM_ENST00000549489.2_Missense_Mutation_p.T1204I	p.T1204I			WXS	Illumina GAIIx	Phase_I	O43451	MGA_HUMAN			30	3665	+	Melanoma(164;0.0272)		1204			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3611C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.588013	0.66105	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.86164	-2.08	4.17	4.17	0.49024	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.37095	N	0.002247	D	0.93625	0.7964	M	0.84683	2.71	0.48288	D	0.999624	D	0.76494	0.999	D	0.77004	0.989	D	0.94820	0.7986	10	0.87932	D	0	.	15.2099	0.73214	0.0:1.0:0.0:0.0	.	1204	O43451	MGA_HUMAN	I	1204;1204;1081	ENSP00000447378:T1204I	ENSP00000316431:T1081I	T	+	2	0	MGAM	141403129	1.000000	0.71417	0.965000	0.40720	0.603000	0.37013	7.716000	0.84723	1.857000	0.53885	0.313000	0.20887	ACA		0.517	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			9	28	0	0	0	1	0	9	28					T	141756660	C	T	141756660	3	4	24	1	0	0	0	0	1	0	0	0	9550	478	17	3	3725	3	MGAM	7	141756660	Missense_Mutation	SNP	C	TCGA-N7-A59B-01A-11D-A28R-08	2041029	141756660	17382003	21	2486										
KCNH2	3757	broad.mit.edu	37	chr7	150648140	150648140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	cagcatctgtgtgtggtagcGggctgtgcccgagtacagcc	15	11	1	0			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr7:150648140G>A	ENST00000262186.5	-	8	2415	c.2014C>T	c.(2014-2016)Cgc>Tgc	p.R672C	KCNH2_ENST00000430723.3_Missense_Mutation_p.R672C|KCNH2_ENST00000392968.2_Missense_Mutation_p.R576C|KCNH2_ENST00000330883.4_Missense_Mutation_p.R332C	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	672			Missing (in LQT2). {ECO:0000269|PubMed:15840476}.		cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GTGTGGTAGCGGGCTGTGCCC	0.652																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1726-1728)Cgc>Tgc		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						72	61	65					7																	150648140		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150648140G>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2014C>T	7.37:g.150648140G>A	ENSP00000262186:p.Arg672Cys		Somatic				KCNH2_ENST00000262186.5_Missense_Mutation_p.R672C|KCNH2_ENST00000330883.4_Missense_Mutation_p.R332C|KCNH2_ENST00000430723.3_Missense_Mutation_p.R672C	p.R576C			WXS	Illumina GAIIx	Phase_I	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	2846	-	all_neural(206;0.219)		672					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.1726C>T	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882095	0.72294	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15	4.36	4.36	0.52297	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	M	0.91510	3.215	0.54753	D	0.999981	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;1.0;0.993;0.999;0.988	D	0.98528	1.0626	10	0.87932	D	0	.	10.087	0.42423	0.0:0.0:0.7993:0.2007	.	576;672;332;672;332	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	C	332;576;672;332;672	ENSP00000328531:R332C;ENSP00000376695:R576C;ENSP00000262186:R672C;ENSP00000387657:R672C	ENSP00000262186:R672C	R	-	1	0	KCNH2	150279073	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	6.503000	0.73699	2.126000	0.65437	0.313000	0.20887	CGC		0.652	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		18	35	0	0	0	1	0	18	35					A	150648140	G	A	150648140	3	1	24	1	0	0	0	0	1	0	0	0	8041	1116	39	1	1766	1	KCNH2	7	150648140	Missense_Mutation	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08	8891480	150648140	8490523	22	2487										
HTRA4	203100	broad.mit.edu	37	chr8	38834215	38834215	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	tgaagctgttgtcaaggataTtgaccttaaattggatcttg	10	5	2	2			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr8:38834215T>C	ENST00000302495.4	+	3	828	c.728T>C	c.(727-729)aTt>aCt	p.I243T		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	243	Serine protease.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GTCAAGGATATTGACCTTAAA	0.433																																						ENST00000302495.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11						c.(727-729)aTt>aCt		HtrA serine peptidase 4							110	102	105					8																	38834215		2203	4300	6503	SO:0001583	missense	203100				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr8:38834215T>C	AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.728T>C	8.37:g.38834215T>C	ENSP00000305919:p.Ile243Thr		Somatic					p.I243T	NM_153692.3	NP_710159.1	WXS	Illumina GAIIx	Phase_I	P83105	HTRA4_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		3	828	+		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	243			Serine protease.		Q542Z4|Q6PF13	Missense_Mutation	SNP	ENST00000302495.4	37	c.728T>C	CCDS6110.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.669975	0.67814	.	.	ENSG00000169495	ENST00000302495	D	0.88354	-2.37	5.38	5.38	0.77491	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.267415	0.31697	N	0.007215	D	0.85309	0.5667	N	0.05177	-0.1	0.45822	D	0.998699	P	0.51933	0.949	P	0.57009	0.811	D	0.87157	0.2212	10	0.41790	T	0.15	-10.0831	14.3719	0.66846	0.0:0.0:0.0:1.0	.	243	P83105	HTRA4_HUMAN	T	243	ENSP00000305919:I243T	ENSP00000305919:I243T	I	+	2	0	HTRA4	38953372	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	4.967000	0.63722	2.057000	0.61298	0.454000	0.30748	ATT		0.433	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		21	25	0	0	0	1	0	21	25					C	38834215	T	C	38834215	3	2	24	1	0	0	0	0	1	0	0	0	7465	1493	52	4	738	4	HTRA4	8	38834215	Missense_Mutation	SNP	T	TCGA-N7-A59B-01A-11D-A28R-08		38834215	107529807	23	2488										
FER1L6	654463	broad.mit.edu	37	chr8	125082754	125082754	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	attcaacaattttgaagactGggtgaaaacttttgagctct	8	6	2	4			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr8:125082754G>A	ENST00000522917.1	+	30	4087	c.3881G>A	c.(3880-3882)tGg>tAg	p.W1294*	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.W1294*	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1294						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)			TTTGAAGACTGGGTGAAAACT	0.418																																						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.(3880-3882)tGg>tAg		fer-1-like 6 (C. elegans)							179	168	172					8																	125082754		1844	4082	5926	SO:0001587	stop_gained	654463					integral to membrane		g.chr8:125082754G>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.3881G>A	8.37:g.125082754G>A	ENSP00000428280:p.Trp1294*		Somatic				FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.W1294*	p.W1294*	NM_001039112.2	NP_001034201.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		30	4087	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1294						Nonsense_Mutation	SNP	ENST00000522917.1	37	c.3881G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	45	11.765625	0.99600	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5392	20.017	0.97481	0.0:0.0:1.0:0.0	.	.	.	.	X	1294	.	ENSP00000381982:W1294X	W	+	2	0	FER1L6	125151935	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.773000	0.98989	2.832000	0.97577	0.655000	0.94253	TGG		0.418	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		16	88	0	0	0	1	0	16	88					A	125082754	G	A	125082754	4	1	24	1	0	0	0	0	0	1	0	0	5823	1357	47	3	3995	3	FER1L6	8	125082754	Nonsense_Mutation	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08	86248539	125082754	21281268	24	2489										
UNC13B	10497	broad.mit.edu	37	chr9	35381192	35381192	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	aagtagccccataccacgtgCagtatacatgtctccatgag	8	12	1	1			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr9:35381192C>T	ENST00000378495.3	+	18	2446	c.2224C>T	c.(2224-2226)Cag>Tag	p.Q742*	UNC13B_ENST00000396787.1_Nonsense_Mutation_p.Q754*|UNC13B_ENST00000378496.4_Nonsense_Mutation_p.Q742*	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	742					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)			ATACCACGTGCAGTATACATG	0.537																																						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.(2224-2226)Cag>Tag		unc-13 homolog B (C. elegans)							93	78	84					9																	35381192		2203	4300	6503	SO:0001587	stop_gained	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35381192C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2224C>T	9.37:g.35381192C>T	ENSP00000367756:p.Gln742*		Somatic				UNC13B_ENST00000396787.1_Nonsense_Mutation_p.Q754*|UNC13B_ENST00000378496.4_Nonsense_Mutation_p.Q742*	p.Q742*	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)		18	2446	+	all_epithelial(49;0.212)		742					Q5VYM8	Nonsense_Mutation	SNP	ENST00000378495.3	37	c.2224C>T	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	38	6.719155	0.97788	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	.	.	.	5.63	3.63	0.41609	.	0.048893	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.039	12.1334	0.53957	0.1355:0.7341:0.1304:0.0	.	.	.	.	X	754;742;742;329	.	ENSP00000367756:Q742X	Q	+	1	0	UNC13B	35371192	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	6.039000	0.70972	1.335000	0.45486	0.585000	0.79938	CAG		0.537	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		18	31	0	0	0	1	0	18	31					T	35381192	C	T	35381192	4	4	24	1	0	0	0	0	0	1	0	0	17000	711	25	3	2294	3	UNC13B	9	35381192	Nonsense_Mutation	SNP	C	TCGA-N7-A59B-01A-11D-A28R-08		35381192	105832239	25	2490										
OR13C8	138802	broad.mit.edu	37	chr9	107331463	107331463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	tgtaatatggaaaggaccaaCgattccacgtcgacagaatt	9	8	0	1			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr9:107331463C>T	ENST00000335040.1	+	1	15	c.15C>T	c.(13-15)aaC>aaT	p.N5N		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	5						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)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AAAGGACCAACGATTCCACGT	0.408																																						ENST00000335040.1																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(13-15)aaC>aaT		olfactory receptor, family 13, subfamily C, member 8							95	97	96					9																	107331463		2203	4300	6503	SO:0001819	synonymous_variant	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331463C>T		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.15C>T	9.37:g.107331463C>T			Somatic					p.N5N	NM_001004483.1	NP_001004483.1	WXS	Illumina GAIIx	Phase_I	Q8NGS7	O13C8_HUMAN			1	15	+			5					Q5VVG0|Q96R44	Silent	SNP	ENST00000335040.1	37	c.15C>T	CCDS35090.1																																																																																				0.408	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			50	5	0	0	0	1	0	50	5					T	107331463	C	T	107331463	2	4	24	1	0	0	0	0	0	0	0	1	10947	535	19	1		1	OR13C8	9	107331463	Silent	SNP	C	TCGA-N7-A59B-01A-11D-A28R-08	71950271	107331463	33881968	26	2491										
SORCS3	22986	broad.mit.edu	37	chr10	107015549	107015549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	gtcattgtgtatgtcacacaGctgacgttaggtgagtgcca	12	8	2	2			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr10:107015549G>A	ENST00000369701.3	+	24	3554	c.3327G>A	c.(3325-3327)caG>caA	p.Q1109Q		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1109					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)		ATGTCACACAGCTGACGTTAG	0.443																																					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.(3325-3327)caG>caA		sortilin-related VPS10 domain containing receptor 3							101	88	92					10																	107015549		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107015549G>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.3327G>A	10.37:g.107015549G>A			Somatic					p.Q1109Q	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)	24	3554	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1109					Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.3327G>A	CCDS7558.1																																																																																				0.443	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		27	34	0	0	0	1	0	27	34					A	107015549	G	A	107015549	2	1	24	1	0	0	0	0	0	0	0	1	14947	962	34	3		3	SORCS3	10	107015549	Silent	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08		107015549	28519198	27	2492										
C10orf137	26098	broad.mit.edu	37	chr10	127414264	127414266	+	In_Frame_Del	DEL	GGA	GGA	-													0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	tggccagtatcaatggtgatGgagccgctcagcctgtctca							TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr10:127414264_127414266delGGA	ENST00000356792.4	+	6	881_883	c.649_651delGGA	c.(649-651)ggadel	p.G217del	C10orf137_ENST00000337623.3_In_Frame_Del_p.G217del	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		217					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)				CAATGGTGATGGAGCCGCTCAGC	0.448																																						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.(649-651)del		chromosome 10 open reading frame 137																																				SO:0001651	inframe_deletion	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127414264_127414266delGGA																												ENST00000356792.4:c.649_651delGGA	10.37:g.127414264_127414266delGGA	ENSP00000349244:p.Gly217del		Somatic				C10orf137_ENST00000356792.4_In_Frame_Del_p.G217del	p.G217del	NM_015608.2	NP_056423.2	WXS	Illumina GAIIx	Phase_I	Q3B7T1	EDRF1_HUMAN			6	754_756	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	217					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	In_Frame_Del	DEL	ENST00000356792.4	37	c.649_651delGGA	CCDS55733.1																																																																																				0.448	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			21	31						21	31	---	---	---	---	-	127414266	GGA	-	127414264	7	5	24	1	0	1	0	1	0	0	0	0	1596	1349	47	0	671	0	C10orf137	10	127414264	In_Frame_Del	DEL	GGA	TCGA-N7-A59B-01A-11D-A28R-08	20398715	127414264	8120483	28	2493										
PHRF1	57661	broad.mit.edu	37	chr11	587405	587405	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	cattcagagaccaggccgtgGggacgccggagaactgtgcc	15	12	1	2			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr11:587405G>C	ENST00000264555.5	+	4	489	c.361G>C	c.(361-363)Ggg>Cgg	p.G121R	PHRF1_ENST00000413872.2_Missense_Mutation_p.G120R|PHRF1_ENST00000416188.2_Missense_Mutation_p.G121R|PHRF1_ENST00000533464.1_Missense_Mutation_p.G117R	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	121					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCAGGCCGTGGGGACGCCGGA	0.552																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(361-363)Ggg>Cgg		PHD and ring finger domains 1							122	131	128					11																	587405		2107	4205	6312	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:587405G>C	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.361G>C	11.37:g.587405G>C	ENSP00000264555:p.Gly121Arg		Somatic				PHRF1_ENST00000416188.2_Missense_Mutation_p.G121R|PHRF1_ENST00000533464.1_Missense_Mutation_p.G117R|PHRF1_ENST00000413872.2_Missense_Mutation_p.G120R	p.G121R	NM_020901.2	NP_065952.2	WXS	Illumina GAIIx	Phase_I	Q9P1Y6	PHRF1_HUMAN			4	489	+			121					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.361G>C		.	.	.	.	.	.	.	.	.	.	G	17.99	3.522268	0.64747	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	4.81	4.81	0.61882	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.39083	N	0.001464	T	0.67420	0.2891	N	0.10707	0.03	0.58432	D	0.999993	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	0.76321	-0.3002	10	0.87932	D	0	-37.5602	16.643	0.85134	0.0:0.0:1.0:0.0	.	117;120;121;121	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	R	121;120;121;117	ENSP00000264555:G121R;ENSP00000388589:G120R;ENSP00000410626:G121R;ENSP00000431870:G117R	ENSP00000264555:G121R	G	+	1	0	PHRF1	577405	1.000000	0.71417	0.994000	0.49952	0.049000	0.14656	9.381000	0.97205	2.208000	0.71279	0.561000	0.74099	GGG		0.552	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		16	54	0	0	0	1	0	16	54					C	587405	G	C	587405	3	2	24	1	0	0	0	0	1	0	0	0	11870	1232	43	5	371	5	PHRF1	11	587405	Missense_Mutation	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08		587405	134419111	29	2494										
SLC15A3	51296	broad.mit.edu	37	chr11	60707095	60707095	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	ggtggatgtagtgtaagcgcTccatctccaggactcctggt	13	10	1	0			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr11:60707095T>A	ENST00000227880.3	-	6	1525	c.1292A>T	c.(1291-1293)gAg>gTg	p.E431V		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	431					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GTGTAAGCGCTCCATCTCCAG	0.592																																						ENST00000227880.3																			0				central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						c.(1291-1293)gAg>gTg		solute carrier family 15 (oligopeptide transporter), member 3							113	73	87					11																	60707095		2203	4299	6502	SO:0001583	missense	51296				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr11:60707095T>A	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"Solute carriers"	18068	protein-coding gene	gene with protein product		610408	"solute carrier family 15, member 3"			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.1292A>T	11.37:g.60707095T>A	ENSP00000227880:p.Glu431Val		Somatic					p.E431V	NM_016582.2	NP_057666.1	WXS	Illumina GAIIx	Phase_I	Q8IY34	S15A3_HUMAN			6	1525	-			431					Q9P2X9	Missense_Mutation	SNP	ENST00000227880.3	37	c.1292A>T	CCDS7998.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.28|14.28	2.487998|2.487998	0.44249|0.44249	.|.	.|.	ENSG00000110446|ENSG00000110446	ENST00000227880|ENST00000537307	T|.	0.04317|.	3.65|.	4.62|4.62	4.62|4.62	0.57501|0.57501	Major facilitator superfamily domain, general substrate transporter (1);|.	0.599027|.	0.15907|.	N|.	0.238767|.	T|T	0.40297|0.40297	0.1111|0.1111	L|L	0.29908|0.29908	0.895|0.895	0.32980|0.32980	D|D	0.523528|0.523528	P|P	0.51147|0.47484	0.942|0.896	P|P	0.52386|0.45610	0.697|0.487	T|T	0.50668|0.50668	-0.8801|-0.8801	10|7	0.72032|.	D|.	0.01|.	-10.9456|-10.9456	11.9318|11.9318	0.52851|0.52851	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	431|375	Q8IY34|F5H1C8	S15A3_HUMAN|.	V|C	431|97	ENSP00000227880:E431V|.	ENSP00000227880:E431V|.	E|S	-|-	2|1	0|0	SLC15A3|SLC15A3	60463671|60463671	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.942000|0.942000	0.58702|0.58702	4.958000|4.958000	0.63660|0.63660	2.072000|2.072000	0.62099|0.62099	0.459000|0.459000	0.35465|0.35465	GAG|AGC		0.592	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1	NM_016582		14	30	0	0	0	1	0	14	30					A	60707095	T	A	60707095	3	1	24	1	0	0	0	0	1	0	0	0	14415	1551	54	4	465	4	SLC15A3	11	60707095	Missense_Mutation	SNP	T	TCGA-N7-A59B-01A-11D-A28R-08	60119690	60707095	74299421	30	2495										
C12orf64	283310	broad.mit.edu	37	chr12	80660253	80660253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	gtggtgtgccagaagggcatGctgtaccatcactgttcctc	12	11	1	1			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr12:80660253G>A	ENST00000547103.1	+	20	2226	c.2220G>A	c.(2218-2220)atG>atA	p.M740I	OTOGL_ENST00000458043.2_Missense_Mutation_p.M740I			Q3ZCN5	OTOGL_HUMAN	otogelin-like	740	TIL 2.				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						AGAAGGGCATGCTGTACCATC	0.483																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(2218-2220)atG>atA		otogelin-like							112	110	111					12																	80660253		2100	4230	6330	SO:0001583	missense	283310							g.chr12:80660253G>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2220G>A	12.37:g.80660253G>A	ENSP00000447211:p.Met740Ile		Somatic				OTOGL_ENST00000547103.1_Missense_Mutation_p.M740I	p.M740I	NM_173591.3	NP_775862.3	WXS	Illumina GAIIx	Phase_I					20	2226	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.2220G>A		.	.	.	.	.	.	.	.	.	.	G	22.3	4.274529	0.80580	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	D;D	0.90620	-2.7;-2.7	5.78	5.78	0.91487	.	.	.	.	.	D	0.95940	0.8678	M	0.88377	2.95	0.58432	D	0.999999	.	.	.	.	.	.	D	0.95218	0.8331	7	0.45353	T	0.12	.	19.9987	0.97401	0.0:0.0:1.0:0.0	.	.	.	.	I	740	ENSP00000447211:M740I;ENSP00000400895:M740I	ENSP00000400895:M740I	M	+	3	0	OTOGL	79184384	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.094000	0.94168	2.738000	0.93877	0.591000	0.81541	ATG		0.483	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		4	22	0	0	0	1	0	4	22					A	80660253	G	A	80660253	3	1	24	1	0	0	0	0	1	0	0	0	1709	1319	46	3	2298	3	C12orf64	12	80660253	Missense_Mutation	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08		80660253	53191642	31	2496										
RNF113B	140432	broad.mit.edu	37	chr13	98829047	98829047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	ctcaggtagctgtggattccCcggtagatgtggtcgtgctc	14	10	1	1			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr13:98829047C>T	ENST00000267291.6	-	1	472	c.444G>A	c.(442-444)cgG>cgA	p.R148R	FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	148							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)			TGTGGATTCCCCGGTAGATGT	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.(442-444)cgG>cgA		ring finger protein 113B							98	83	88					13																	98829047		2203	4300	6503	SO:0001819	synonymous_variant	140432						nucleic acid binding|zinc ion binding	g.chr13:98829047C>T	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.444G>A	13.37:g.98829047C>T			Somatic				FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron	p.R148R	NM_178861.4	NP_849192.1	WXS	Illumina GAIIx	Phase_I	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	472	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		148					Q8WWF9|Q96QY9	Silent	SNP	ENST00000267291.6	37	c.444G>A	CCDS9486.1																																																																																				0.647	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		11	51	0	0	0	1	0	11	51					T	98829047	C	T	98829047	2	4	24	1	0	0	0	0	0	0	0	1	13443	610	22	3		3	RNF113B	13	98829047	Silent	SNP	C	TCGA-N7-A59B-01A-11D-A28R-08		98829047	16340831	32	2497										
LIG4	3981	broad.mit.edu	37	chr13	108861426	108861426	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	tggtacaaagcttttggtctTaaaacattctaaaagccatg	7	7	2	0			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr13:108861426T>C	ENST00000356922.4	-	2	2463	c.2191A>G	c.(2191-2193)Aag>Gag	p.K731E	LIG4_ENST00000405925.1_Missense_Mutation_p.K731E|LIG4_ENST00000442234.1_Missense_Mutation_p.K731E	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	731	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)			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)					CTTTTGGTCTTAAAACATTCT	0.383								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2191-2193)Aag>Gag	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							75	71	72					13																	108861426		2203	4299	6502	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861426T>C	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.2191A>G	13.37:g.108861426T>C	ENSP00000349393:p.Lys731Glu		Somatic				LIG4_ENST00000405925.1_Missense_Mutation_p.K731E|LIG4_ENST00000442234.1_Missense_Mutation_p.K731E	p.K731E	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	WXS	Illumina GAIIx	Phase_I	P49917	DNLI4_HUMAN			2	2463	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		731			BRCT 1.		Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.2191A>G	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	1.030	-0.682057	0.03353	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.11495	2.77;2.77;2.77	5.83	-2.51	0.06365	BRCT (3);	0.567187	0.19841	N	0.104851	T	0.03095	0.0091	N	0.04636	-0.2	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43734	-0.9373	10	0.06365	T	0.9	.	7.3281	0.26567	0.0:0.3507:0.3939:0.2555	.	731	P49917	DNLI4_HUMAN	E	731	ENSP00000385955:K731E;ENSP00000402030:K731E;ENSP00000349393:K731E	ENSP00000349393:K731E	K	-	1	0	LIG4	107659427	0.574000	0.26684	0.066000	0.19879	0.969000	0.65631	0.408000	0.21065	-0.364000	0.08088	0.440000	0.28878	AAG		0.383	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		26	45	0	0	0	1	0	26	45					C	108861426	T	C	108861426	3	2	24	1	0	0	0	0	1	0	0	0	8792	1763	61	4	548	4	LIG4	13	108861426	Missense_Mutation	SNP	T	TCGA-N7-A59B-01A-11D-A28R-08	10032379	108861426	6308452	33	2498										
MYH7	4625	broad.mit.edu	37	chr14	23886383	23886383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	ctgcaggtttttgttctcccGcttgaaggtctccagatgtt	10	10	2	2	rs45544633		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr14:23886383G>A	ENST00000355349.3	-	32	4660	c.4498C>T	c.(4498-4500)Cgg>Tgg	p.R1500W	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1500			R -> P (in MPD1). {ECO:0000269|PubMed:15322983}.		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.R1500W(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)		TTGTTCTCCCGCTTGAAGGTC	0.597																																						ENST00000355349.3																			1	Substitution - Missense(1)	p.R1500W(1)	kidney(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	GRCh37	CM045547	MYH7	M	rs45544633	c.(4498-4500)Cgg>Tgg		myosin, heavy chain 7, cardiac muscle, beta							123	131	128					14																	23886383		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.chr14:23886383G>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.4498C>T	14.37:g.23886383G>A	ENSP00000347507:p.Arg1500Trp		Somatic					p.R1500W	NM_000257.2	NP_000248.2	WXS	Illumina GAIIx	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	32	4660	-	all_cancers(95;2.54e-05)		1500		R -> P (in MPD1).			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4498C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859274	0.71834	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.84146	-1.81	5.27	0.846	0.18955	Myosin tail (1);	.	.	.	.	D	0.94922	0.8358	H	0.98027	4.13	0.52501	D	0.999954	D	0.89917	1.0	D	0.97110	1.0	D	0.96193	0.9139	9	0.87932	D	0	.	15.4495	0.75262	0.0:0.0:0.3848:0.6152	rs45544633	1500	P12883	MYH7_HUMAN	W	1500;1505	ENSP00000347507:R1500W	ENSP00000347507:R1500W	R	-	1	2	MYH7	22956223	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.354000	0.20146	0.316000	0.23135	0.591000	0.81541	CGG		0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		90	8	0	0	0	1	0	90	8					A	23886383	G	A	23886383	3	1	24	1	0	0	0	0	1	0	0	0	10048	1086	38	1	1345	1	MYH7	14	23886383	Missense_Mutation	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08		23886383	83463157	34	2499										
USP10	9100	broad.mit.edu	37	chr16	84778803	84778803	+	Frame_Shift_Del	DEL	C	C	-													0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	cggcagtgacaccaggactgCagggcagccagaggggggcc							TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr16:84778803delC	ENST00000219473.7	+	4	829	c.716delC	c.(715-717)gcafs	p.A239fs	USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Frame_Shift_Del_p.A243fs	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	239					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						ACCAGGACTGCAGGGCAGCCA	0.627																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(715-717)gafs		ubiquitin specific peptidase 10							14	15	15					16																	84778803		1863	4077	5940	SO:0001589	frameshift_variant	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84778803delC	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.716delC	16.37:g.84778803delC	ENSP00000219473:p.Ala239fs		Somatic				USP10_ENST00000570191.1_Frame_Shift_Del_p.A243fs|USP10_ENST00000562743.1_3'UTR	p.A239fs	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	WXS	Illumina GAIIx	Phase_I	Q14694	UBP10_HUMAN			4	829	+			239					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Frame_Shift_Del	DEL	ENST00000219473.7	37	c.716delC	CCDS45537.1																																																																																				0.627	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			19	3						19	3	---	---	---	---	-	84778803	C	-	84778803	7	5	24	1	0	1	0	1	0	0	0	0	17056	710	25	0	730	0	USP10	16	84778803	Frame_Shift_Del	DEL	C	TCGA-N7-A59B-01A-11D-A28R-08		84778803	5575950	35	2500										
TP53	7157	broad.mit.edu	37	chr17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	gacgcgggtgccgggcggggGtgtggaatcaacccacagct	18	11	1	0	rs28934874|rs137852790|rs137852791		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr17:7578479G>A	ENST00000269305.4	-	5	640	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000420246.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)	CCGGGCGGGGGTGTGGAATCA	0.612		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"		156	Substitution - Missense(107)|Deletion - Frameshift(23)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Unknown(5)	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)	upper_aerodigestive_tract(20)|large_intestine(17)|ovary(16)|lung(15)|oesophagus(12)|endometrium(11)|stomach(9)|breast(9)|central_nervous_system(7)|liver(7)|skin(7)|haematopoietic_and_lymphoid_tissue(5)|soft_tissue(4)|urinary_tract(4)|prostate(4)|bone(4)|vulva(2)|pancreas(2)|biliary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM012662|CM941326	TP53	M	rs28934874	c.(451-453)Ccc>Tcc	Other conserved DNA damage response genes	tumor protein p53							55	55	55					17																	7578479		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.chr17:7578479G>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.451C>T	17.37:g.7578479G>A	ENSP00000269305:p.Pro151Ser	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.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S	p.P151S	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	583	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	151		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (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.451C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460739	0.63513	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	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);	0.110207	0.64402	D	0.000007	D	0.99894	0.9949	M	0.87038	2.855	0.54753	D	0.999985	D;P;P;P;D;P;D	0.89917	0.99;0.941;0.92;0.835;0.98;0.953;1.0	P;P;P;P;P;P;D	0.97110	0.793;0.749;0.814;0.652;0.837;0.837;1.0	D	0.96419	0.9310	10	0.87932	D	0	-14.1156	17.4784	0.87667	0.0:0.0:1.0:0.0	rs28934874	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151S;ENSP00000352610:P151S;ENSP00000269305:P151S;ENSP00000398846:P151S;ENSP00000391127:P151S;ENSP00000391478:P151S;ENSP00000425104:P19S;ENSP00000423862:P58S;ENSP00000424104:P151S	ENSP00000269305:P151S	P	-	1	0	TP53	7519204	1.000000	0.71417	0.971000	0.41717	0.067000	0.16453	7.823000	0.86660	2.804000	0.96469	0.655000	0.94253	CCC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	4	0	0	0	1	0	25	4					A	7578479	G	A	7578479	3	1	24	1	0	0	0	0	1	0	0	0	16396	1261	44	3	847	3	TP53	17	7578479	Missense_Mutation	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08		7578479	73616731	36	2501										
UBB	7314	broad.mit.edu	37	chr17	16285416	16285416	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	tacaacatccagaaggagtcGaccctgcacctggtcctgcg	10	14	0	1	rs146449749		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr17:16285416G>T	ENST00000395837.1	+	2	376	c.195G>T	c.(193-195)tcG>tcT	p.S65S	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.S65S|UBB_ENST00000302182.3_Silent_p.S65S|UBB_ENST00000535788.1_Silent_p.S65S|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	65	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)				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)		AGAAGGAGTCGACCCTGCACC	0.562																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(193-195)tcG>tcT		ubiquitin B							72	71	72					17																	16285416		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285416G>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.195G>T	17.37:g.16285416G>T			Somatic				UBB_ENST00000578649.1_Intron|UBB_ENST00000395837.1_Silent_p.S65S|UBB_ENST00000535788.1_Silent_p.S65S|UBB_ENST00000395839.1_Silent_p.S65S	p.S65S	NM_018955.2	NP_061828.1	WXS	Illumina GAIIx	Phase_I	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	587	+			65			Ubiquitin-like 1.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.195G>T	CCDS11177.1																																																																																				0.562	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		4	125	1	0	0.014758	1	0.0149783	4	125					T	16285416	G	T	16285416	2	4	24	1	0	0	0	0	0	0	0	1	16856	1045	37	2		2	UBB	17	16285416	Silent	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08	8706937	16285416	64909794	37	2502										
TNRC6C	57690	broad.mit.edu	37	chr17	76045946	76045946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	caattctgggttcagtcaggGgaatggagacactgtgaact	13	7	3	2			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr17:76045946G>A	ENST00000588061.1	+	5	1530	c.803G>A	c.(802-804)gGg>gAg	p.G268E	TNRC6C_ENST00000588847.1_Missense_Mutation_p.G268E|TNRC6C_ENST00000301624.4_Missense_Mutation_p.G268E|TNRC6C_ENST00000335749.4_Missense_Mutation_p.G268E|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G268E|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G268E			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	268	Gly-rich.|Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TTCAGTCAGGGGAATGGAGAC	0.493																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(802-804)gGg>gAg		trinucleotide repeat containing 6C							65	65	65					17																	76045946		1968	4163	6131	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76045946G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.803G>A	17.37:g.76045946G>A	ENSP00000468647:p.Gly268Glu		Somatic				TNRC6C_ENST00000301624.4_Missense_Mutation_p.G268E|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G268E|TNRC6C_ENST00000588061.1_Missense_Mutation_p.G268E|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G268E|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G268E	p.G268E	NM_001142640.1	NP_001136112.1	WXS	Illumina GAIIx	Phase_I	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	1372	+			268			Gly-rich.|Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.803G>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891255	0.33442	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.13778	2.57;2.56;2.56;2.57	5.36	5.36	0.76844	.	0.319423	0.33650	N	0.004693	T	0.10680	0.0261	N	0.22421	0.69	0.46901	D	0.999246	B;B;B	0.27997	0.197;0.082;0.125	B;B;B	0.30716	0.119;0.039;0.056	T	0.18618	-1.0331	10	0.30854	T	0.27	-11.5365	12.5715	0.56339	0.0752:0.0:0.9248:0.0	.	268;268;268	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	E	268	ENSP00000336783:G268E;ENSP00000301624:G268E;ENSP00000440310:G268E;ENSP00000442421:G268E	ENSP00000301624:G268E	G	+	2	0	TNRC6C	73557541	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.978000	0.56881	2.782000	0.95742	0.655000	0.94253	GGG		0.493	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		30	115	0	0	0	1	0	30	115					A	76045946	G	A	76045946	3	1	24	1	0	0	0	0	1	0	0	0	16357	1232	43	3	805	3	TNRC6C	17	76045946	Missense_Mutation	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08	59760530	76045946	5149264	38	2503										
FHOD3	80206	broad.mit.edu	37	chr18	34297864	34297864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	cgacatcctcaccaacaaacGgttcatgcttgacatgctgt	7	13	2	1			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr18:34297864G>A	ENST00000359247.4	+	15	2027	c.2027G>A	c.(2026-2028)cGg>cAg	p.R676Q	FHOD3_ENST00000592128.1_5'Flank|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Missense_Mutation_p.R655Q|FHOD3_ENST00000257209.4_Missense_Mutation_p.R693Q|FHOD3_ENST00000590592.1_Missense_Mutation_p.R868Q	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	676					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACCAACAAACGGTTCATGCTT	0.542																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(2077-2079)cGg>cAg		formin homology 2 domain containing 3							124	105	112					18																	34297864		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34297864G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2027G>A	18.37:g.34297864G>A	ENSP00000352186:p.Arg676Gln		Somatic				FHOD3_ENST00000445677.1_Missense_Mutation_p.R655Q|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000359247.4_Missense_Mutation_p.R676Q|FHOD3_ENST00000590592.1_Missense_Mutation_p.R868Q	p.R693Q	NM_025135.2	NP_079411.2	WXS	Illumina GAIIx	Phase_I	Q2V2M9	FHOD3_HUMAN			16	2200	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	676					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.2078G>A		.	.	.	.	.	.	.	.	.	.	G	19.85	3.903283	0.72754	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.34072	1.38;1.38;1.38	5.24	5.24	0.73138	.	0.249780	0.40469	N	0.001093	T	0.56455	0.1986	M	0.67953	2.075	0.45704	D	0.998611	D;D;D	0.71674	0.974;0.998;0.991	P;D;P	0.68765	0.455;0.96;0.594	T	0.52939	-0.8508	10	0.34782	T	0.22	.	15.5657	0.76290	0.0:0.0:1.0:0.0	.	655;676;693	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	Q	693;676;655	ENSP00000257209:R693Q;ENSP00000352186:R676Q;ENSP00000411430:R655Q	ENSP00000257209:R693Q	R	+	2	0	FHOD3	32551862	1.000000	0.71417	0.988000	0.46212	0.964000	0.63967	6.394000	0.73223	2.458000	0.83093	0.455000	0.32223	CGG		0.542	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		49	59	0	0	0	1	0	49	59					A	34297864	G	A	34297864	3	1	24	1	0	0	0	0	1	0	0	0	5891	1116	39	1	2140	1	FHOD3	18	34297864	Missense_Mutation	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08		34297864	43779384	39	2504										
SAFB2	9667	broad.mit.edu	37	chr19	5594052	5594066	+	In_Frame_Del	DEL	CGCTCCCGCTCCATG	CGCTCCCGCTCCATG	-													0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	gcatgcgctcgcgctccagcCgctcccgctccatgcgctcc					rs568647516|rs548751633	byFrequency	TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:5594052_5594066delCGCTCCCGCTCCATG	ENST00000252542.4	-	15	2307_2321	c.2043_2057delCATGGAGCGGGAGCG	c.(2041-2058)cgcatggagcgggagcgg>cgg	p.681_686RMERER>R		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	681	Arg-rich.|Glu-rich.|Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GCGCTCCAGCCGCTCCCGCTCCATGCGCTCCCGCT	0.716																																					Ovarian(127;888 1728 23957 44128 52668)	ENST00000252542.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2041-2058)cgg>cg		scaffold attachment factor B2																																				SO:0001651	inframe_deletion	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5594052_5594066delCGCTCCCGCTCCATG	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"RNA binding motif (RRM) containing"	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2043_2057delCATGGAGCGGGAGCG	19.37:g.5594052_5594066delCGCTCCCGCTCCATG	ENSP00000252542:p.Arg681_Glu685del		Somatic					p.RMERER681del	NM_014649.2	NP_055464.1	WXS	Illumina GAIIx	Phase_I	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	15	2307_2321	-			681			Arg-rich.|Glu-rich.|Interacts with SAFB1.		B4DKG3|Q8TB13	In_Frame_Del	DEL	ENST00000252542.4	37	c.2043_2057delCATGGAGCGGGAGCG	CCDS32879.1																																																																																				0.716	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		14	11						14	11	---	---	---	---	-	5594066	CGCTCCCGCTCCATG	-	5594052	7	5	24	1	0	1	0	1	0	0	0	0	13822	652	23	0	832	0	SAFB2	19	5594052	In_Frame_Del	DEL	CGCTCCCGCTCCATG	TCGA-N7-A59B-01A-11D-A28R-08		5594052	53534931	40	2505										
ZNF358	140467	broad.mit.edu	37	chr19	7585559	7585559	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	ctgccggatcccagctccaaAcccctccccggctccagatc	7	21	0	1			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:7585559A>G	ENST00000597229.1	+	2	1601	c.1431A>G	c.(1429-1431)aaA>aaG	p.K477K	CTD-2207O23.11_ENST00000602083.1_RNA|MCOLN1_ENST00000264079.6_5'Flank|ZNF358_ENST00000394341.2_Silent_p.K477K	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	477					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						ccagctccaaacccctccccg	0.682																																						ENST00000597229.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(1429-1431)aaA>aaG		zinc finger protein 358							36	36	36					19																	7585559		2200	4298	6498	SO:0001819	synonymous_variant	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.chr19:7585559A>G	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.1431A>G	19.37:g.7585559A>G			Somatic				ZNF358_ENST00000394341.2_Silent_p.K477K	p.K477K	NM_018083.4	NP_060553.4	WXS	Illumina GAIIx	Phase_I	Q9NW07	ZN358_HUMAN			2	1601	+			477					Q9BTM7	Silent	SNP	ENST00000597229.1	37	c.1431A>G	CCDS32890.2																																																																																				0.682	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			12	27	0	0	0	1	0	12	27					G	7585559	A	G	7585559	2	3	24	1	0	0	0	0	0	0	0	1	17882	40	2	4		4	ZNF358	19	7585559	Silent	SNP	A	TCGA-N7-A59B-01A-11D-A28R-08	1991507	7585559	51543424	41	2506										
ZNF799	90576	broad.mit.edu	37	chr19	12501523	12501523	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	gtgaaggctttaccacattgTtgacactcatagggtttctc	9	9	2	2			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:12501523T>C	ENST00000430385.3	-	4	1889	c.1689A>G	c.(1687-1689)caA>caG	p.Q563Q	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Silent_p.Q531Q	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	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)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TACCACATTGTTGACACTCAT	0.413																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1591-1593)caA>caG		zinc finger protein 799							126	125	125					19																	12501523		2203	4299	6502	SO:0001819	synonymous_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501523T>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.1689A>G	19.37:g.12501523T>C			Somatic				CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.Q563Q	p.Q531Q			WXS	Illumina GAIIx	Phase_I	Q96GE5	ZN799_HUMAN			4	2342	-			563						Silent	SNP	ENST00000430385.3	37	c.1593A>G	CCDS45989.1																																																																																				0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		17	116	0	0	0	1	0	17	116					C	12501523	T	C	12501523	2	2	24	1	0	0	0	0	0	0	0	1	18181	1722	60	4		4	ZNF799	19	12501523	Silent	SNP	T	TCGA-N7-A59B-01A-11D-A28R-08	4915964	12501523	46627460	42	2507										
KIAA1683	80726	broad.mit.edu	37	chr19	18376865	18376865	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	gttatcatggctggcaggcgGgtctggggtgagggcttggt	20	6	2	1			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:18376865G>C	ENST00000600328.3	-	3	1678	c.1485C>G	c.(1483-1485)acC>acG	p.T495T	KIAA1683_ENST00000392413.4_Silent_p.T495T|KIAA1683_ENST00000600359.3_Silent_p.T449T			Q9H0B3	K1683_HUMAN	KIAA1683	495						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTGGCAGGCGGGTCTGGGGTG	0.572																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1483-1485)acC>acG		KIAA1683							65	66	65					19																	18376865		2203	4300	6503	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18376865G>C	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1485C>G	19.37:g.18376865G>C			Somatic				KIAA1683_ENST00000600328.2_Silent_p.T495T|KIAA1683_ENST00000600359.2_Silent_p.T449T	p.T495T	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	WXS	Illumina GAIIx	Phase_I	Q9H0B3	K1683_HUMAN			3	1700	-			495					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.1485C>G	CCDS32958.1																																																																																				0.572	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			100	56	0	0	0	1	0	100	56					C	18376865	G	C	18376865	2	2	24	1	0	0	0	0	0	0	0	1	8260	1219	43	5		5	KIAA1683	19	18376865	Silent	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08	5875342	18376865	40752118	43	2508										
LRP3	4037	broad.mit.edu	37	chr19	33687683	33687683	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	gcagtgcggttcctgccttaGgtaagtaagcactttctctc	10	11	1	0			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:33687683G>C	ENST00000253193.7	+	2	323	c.121G>C	c.(121-123)Gcg>Ccg	p.A41P		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	41					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TCCTGCCTTAGGTAAGTAAGC	0.552																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.e2+1		low density lipoprotein receptor-related protein 3							211	169	183					19																	33687683		2203	4300	6503	SO:0001630	splice_region_variant	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33687683G>C	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.121+1G>C	19.37:g.33687683G>C			Somatic				LRP3_ENST00000592484.1_3'UTR	p.A41_splice	NM_002333.3	NP_002324.2	WXS	Illumina GAIIx	Phase_I	O75074	LRP3_HUMAN			2	323	+	Esophageal squamous(110;0.137)		41					B3KQD6|B4DKF2	Splice_Site	SNP	ENST00000253193.7	37	c.121_splice	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053444	0.75960	.	.	ENSG00000130881	ENST00000253193	D	0.87887	-2.31	4.38	4.38	0.52667	CUB (1);	0.131508	0.50627	D	0.000114	D	0.82715	0.5097	N	0.08118	0	0.80722	D	1	D	0.61697	0.99	P	0.56398	0.797	D	0.85719	0.1324	10	0.62326	D	0.03	-18.0146	12.4446	0.55643	0.0:0.0:1.0:0.0	.	41	O75074	LRP3_HUMAN	P	41	ENSP00000253193:A41P	ENSP00000253193:A41P	A	+	1	0	LRP3	38379523	1.000000	0.71417	0.998000	0.56505	0.855000	0.48748	5.533000	0.67160	1.982000	0.57802	0.561000	0.74099	GCG		0.552	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4		Missense_Mutation	35	55	0	0	0	1	0	35	55					C	33687683	G	C	33687683	5	2	24	1	0	0	0	0	0	0	1	0	8967	1014	35	5	127	5	LRP3	19	33687683	Splice_Site	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08	15310818	33687683	25441300	44	2509										
THAP8	199745	broad.mit.edu	37	chr19	36526381	36526381	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	gtgtccaggagctccggcttGgcatccactgtggcaggtgc	15	12	0	0			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:36526381G>T	ENST00000292894.1	-	4	1330	c.786C>A	c.(784-786)gcC>gcA	p.A262A	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_5'Flank|THAP8_ENST00000538849.1_Silent_p.A117A|CLIP3_ENST00000360535.4_5'Flank	NM_152658.2	NP_689871.1	Q8NA92	THAP8_HUMAN	THAP domain containing 8	262							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCTCCGGCTTGGCATCCACTG	0.537																																						ENST00000292894.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8						c.(784-786)gcC>gcA		THAP domain containing 8							89	83	85					19																	36526381		2203	4300	6503	SO:0001819	synonymous_variant	199745						DNA binding|metal ion binding	g.chr19:36526381G>T	AK057453	CCDS33000.1	19q13.13	2013-01-25			ENSG00000161277	ENSG00000161277		"THAP (C2CH-type zinc finger) domain containing"	23191	protein-coding gene	gene with protein product		612536				12575992	Standard	NM_152658		Approved	FLJ32891	uc002oda.1	Q8NA92	OTTHUMG00000048138	ENST00000292894.1:c.786C>A	19.37:g.36526381G>T			Somatic				AC002116.7_ENST00000586962.1_RNA|THAP8_ENST00000538849.1_Silent_p.A117A	p.A262A	NM_152658.2	NP_689871.1	WXS	Illumina GAIIx	Phase_I	Q8NA92	THAP8_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		4	1330	-	Esophageal squamous(110;0.162)		262					Q0P5Z7|Q96M21	Silent	SNP	ENST00000292894.1	37	c.786C>A	CCDS33000.1																																																																																				0.537	THAP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379036.1	NM_152658		16	69	1	0	3.45872e-05	1	3.79343e-05	16	69					T	36526381	G	T	36526381	2	4	24	1	0	0	0	0	0	0	0	1	15865	1335	47	5		5	THAP8	19	36526381	Silent	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08	2838698	36526381	22602602	45	2510										
PAK4	10298	broad.mit.edu	37	chr19	39660328	39660328	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	tggcagagcctgatcgaggaGtcggctcgccggcccaagcc	15	14	0	2			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:39660328G>C	ENST00000593690.1	+	4	562	c.135G>C	c.(133-135)gaG>gaC	p.E45D	PAK4_ENST00000599386.1_Missense_Mutation_p.E45D|PAK4_ENST00000358301.3_Missense_Mutation_p.E45D|PAK4_ENST00000599470.1_Missense_Mutation_p.E45D|PAK4_ENST00000435673.2_Missense_Mutation_p.E45D|PAK4_ENST00000360442.3_Missense_Mutation_p.E45D|PAK4_ENST00000321944.4_Missense_Mutation_p.E45D	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	45	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			TGATCGAGGAGTCGGCTCGCC	0.706																																						ENST00000599386.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13						c.(133-135)gaG>gaC		p21 protein (Cdc42/Rac)-activated kinase 4							33	37	36					19																	39660328		2201	4298	6499	SO:0001583	missense	0				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39660328G>C	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.135G>C	19.37:g.39660328G>C	ENSP00000469413:p.Glu45Asp		Somatic				PAK4_ENST00000360442.3_Missense_Mutation_p.E45D|PAK4_ENST00000358301.3_Missense_Mutation_p.E45D|PAK4_ENST00000321944.4_Missense_Mutation_p.E45D|PAK4_ENST00000593690.1_Missense_Mutation_p.E45D|PAK4_ENST00000599470.1_Missense_Mutation_p.E45D|PAK4_ENST00000435673.2_Missense_Mutation_p.E45D	p.E45D	NM_001014835.1	NP_001014835.1	WXS	Illumina GAIIx	Phase_I	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		3	316	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		45			Linker.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	37	c.135G>C	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980114	0.34942	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000435673;ENST00000360442	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	3.83	2.74	0.32292	PAK-box/P21-Rho-binding (2);	0.068787	0.56097	D	0.000025	T	0.71508	0.3348	N	0.05510	-0.035	0.32838	D	0.505018	B;B;B	0.22276	0.067;0.001;0.001	B;B;B	0.32342	0.144;0.003;0.004	T	0.71547	-0.4560	10	0.40728	T	0.16	.	9.8016	0.40768	0.1069:0.0:0.8931:0.0	.	45;45;45	O96013-4;O96013-3;O96013	.;.;PAK4_HUMAN	D	45	ENSP00000351049:E45D;ENSP00000326864:E45D;ENSP00000392753:E45D;ENSP00000353625:E45D	ENSP00000326864:E45D	E	+	3	2	PAK4	44352168	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.336000	0.33850	0.903000	0.36546	0.550000	0.68814	GAG		0.706	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			28	9	0	0	0	1	0	28	9					C	39660328	G	C	39660328	3	2	24	1	0	0	0	0	1	0	0	0	11412	1020	36	5	137	5	PAK4	19	39660328	Missense_Mutation	SNP	G	TCGA-N7-A59B-01A-11D-A28R-08	3133947	39660328	19468655	46	2511										
ZNF284	342909	broad.mit.edu	37	chr19	44591382	44591382	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	gaggcgcttgaatctagataTgattttatcattatttttaa	7	4	2	3			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:44591382T>G	ENST00000421176.3	+	5	1967	c.1751T>G	c.(1750-1752)aTg>aGg	p.M584R	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	584					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)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AATCTAGATATGATTTTATCA	0.338																																						ENST00000421176.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(1750-1752)aTg>aGg		zinc finger protein 284							19	21	21					19																	44591382		2173	4285	6458	SO:0001583	missense	342909				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44591382T>G	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"Zinc fingers, C2H2-type", "-"	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.1751T>G	19.37:g.44591382T>G	ENSP00000411032:p.Met584Arg		Somatic				ZNF223_ENST00000591793.1_3'UTR	p.M584R	NM_001037813.2	NP_001032902.1	WXS	Illumina GAIIx	Phase_I	Q2VY69	ZN284_HUMAN			5	1967	+		Prostate(69;0.0435)	584					Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	c.1751T>G	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.597273	0.28445	.	.	ENSG00000186026	ENST00000421176	T	0.04758	3.56	0.421	0.421	0.16451	.	.	.	.	.	T	0.01124	0.0037	N	0.00960	-1.095	0.09310	N	1	P	0.44195	0.828	B	0.30251	0.113	T	0.41680	-0.9495	8	0.14252	T	0.57	.	.	.	.	.	584	Q2VY69	ZN284_HUMAN	R	584	ENSP00000411032:M584R	ENSP00000411032:M584R	M	+	2	0	ZNF284	49283222	0.019000	0.18553	0.531000	0.27976	0.570000	0.35934	1.673000	0.37534	0.383000	0.24910	0.374000	0.22700	ATG		0.338	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813		17	18	0	0	0	1	0	17	18					G	44591382	T	G	44591382	3	3	24	1	0	0	0	0	1	0	0	0	17836	1464	51	4	1765	4	ZNF284	19	44591382	Missense_Mutation	SNP	T	TCGA-N7-A59B-01A-11D-A28R-08	4931054	44591382	14537601	47	2512										
LILRB5	10990	broad.mit.edu	37	chr19	54760423	54760423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	tctcatagtagcagcggtatCgccctgcactgtcatacacc	8	14	2	0			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:54760423C>T	ENST00000316219.5	-	3	391	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	LILRB5_ENST00000345866.6_Missense_Mutation_p.R95Q|LILRB5_ENST00000449561.2_Missense_Mutation_p.R95Q|LILRB5_ENST00000450632.1_Missense_Mutation_p.R95Q	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	95	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)		GCAGCGGTATCGCCCTGCACT	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.(283-285)cGa>cAa		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							204	194	198					19																	54760423		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760423C>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.284G>A	19.37:g.54760423C>T	ENSP00000320390:p.Arg95Gln		Somatic				LILRB5_ENST00000449561.2_Missense_Mutation_p.R95Q|LILRB5_ENST00000316219.5_Missense_Mutation_p.R95Q|LILRB5_ENST00000345866.6_Missense_Mutation_p.R95Q	p.R95Q			WXS	Illumina GAIIx	Phase_I	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	361	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		95			Ig-like C2-type 1.		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.284G>A	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577711	0.45902	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	3.29	-6.58	0.01836	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.602610	0.04238	N	0.336390	T	0.12518	0.0304	N	0.26162	0.8	0.09310	N	1	D;D;P;D;D	0.67145	0.996;0.993;0.945;0.991;0.992	P;P;B;B;P	0.55713	0.626;0.558;0.074;0.421;0.782	T	0.19128	-1.0315	10	0.25106	T	0.35	.	2.3099	0.04184	0.1413:0.4069:0.284:0.1679	.	95;86;95;95;95	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	Q	95	ENSP00000320390:R95Q;ENSP00000414225:R95Q;ENSP00000406478:R95Q;ENSP00000263430:R95Q	ENSP00000320390:R95Q	R	-	2	0	LILRB5	59452235	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.803000	0.00362	-1.693000	0.01427	-1.588000	0.00846	CGA		0.627	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			111	135	0	0	0	1	0	111	135					T	54760423	C	T	54760423	3	4	24	1	0	0	0	0	1	0	0	0	8803	884	31	1	1535	1	LILRB5	19	54760423	Missense_Mutation	SNP	C	TCGA-N7-A59B-01A-11D-A28R-08	10169041	54760423	4368560	48	2513										
DNMT3B	1789	broad.mit.edu	37	chr20	31381340	31381340	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	tgttttgttttcccctcaaaAgtggttaataagtcgaaggt	9	6	1	0			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr20:31381340A>G	ENST00000328111.2	+	10	1387		c.e10-1		DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000344505.4_Intron|DNMT3B_ENST00000353855.2_Intron|DNMT3B_ENST00000201963.3_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000456297.2_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta						C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						tcccctcaaaagtggttaata	0.388																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.e10-1		DNA (cytosine-5-)-methyltransferase 3 beta							123	105	111					20																	31381340		2203	4300	6503	SO:0001630	splice_region_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31381340A>G		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1067-1A>G	20.37:g.31381340A>G			Somatic				DNMT3B_ENST00000344505.4_Intron|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000201963.3_Intron|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000353855.2_Intron|DNMT3B_ENST00000443239.3_Intron		NM_006892.3	NP_008823.1	WXS	Illumina GAIIx	Phase_I	Q9UBC3	DNM3B_HUMAN			10	1387	+								A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Splice_Site	SNP	ENST00000328111.2	37		CCDS13205.1																																																																																				0.388	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	Intron	14	21	0	0	0	1	0	14	21					G	31381340	A	G	31381340	5	3	24	1	0	0	0	0	0	0	1	0	4679	86	3	4	1139	4	DNMT3B	20	31381340	Splice_Site	SNP	A	TCGA-N7-A59B-01A-11D-A28R-08		31381340	31644180	49	2514										
RS1	6247	broad.mit.edu	37	chrX	18660259	18660259	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	tgaaccgtggaggtgcggtcCgagttgccatagaagaccta	14	9	0	3			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chrX:18660259C>T	ENST00000379984.3	-	6	580	c.540G>A	c.(538-540)tcG>tcA	p.S180S	RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	180	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	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)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					AGGTGCGGTCCGAGTTGCCAT	0.587																																						ENST00000379984.3																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15						c.(538-540)tcG>tcA		retinoschisin 1							80	70	73					X																	18660259		2203	4300	6503	SO:0001819	synonymous_variant	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18660259C>T	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"retinoschisis (X-linked, juvenile) 1"	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.540G>A	X.37:g.18660259C>T			Somatic				CDKL5_ENST00000379996.3_Intron|CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR	p.S180S	NM_000330.3	NP_000321.1	WXS	Illumina GAIIx	Phase_I	O15537	XLRS1_HUMAN			6	580	-	Hepatocellular(33;0.183)		180			F5/8 type C.		Q0QD39	Silent	SNP	ENST00000379984.3	37	c.540G>A	CCDS14187.1																																																																																				0.587	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			48	40	0	0	0	1	0	48	40					T	18660259	C	T	18660259	2	4	24	1	0	0	0	0	0	0	0	1	13708	639	23	1		1	RS1	23	18660259	Silent	SNP	C	TCGA-N7-A59B-01A-11D-A28R-08		18660259	136610301	50	2515										
UBA1	7317	broad.mit.edu	37	chrX	47060923	47060923	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	ggatgaggcccgacacgggtTtgagagcggggactttgtct	17	8	1	2			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chrX:47060923T>C	ENST00000335972.6	+	8	908	c.725T>C	c.(724-726)tTt>tCt	p.F242S	UBA1_ENST00000377351.4_Missense_Mutation_p.F242S	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	242	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CGACACGGGTTTGAGAGCGGG	0.547																																						ENST00000335972.6																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(724-726)tTt>tCt		ubiquitin-like modifier activating enzyme 1							37	32	33					X																	47060923		2203	4300	6503	SO:0001583	missense	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47060923T>C	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.725T>C	X.37:g.47060923T>C	ENSP00000338413:p.Phe242Ser		Somatic				UBA1_ENST00000377351.4_Missense_Mutation_p.F242S	p.F242S	NM_003334.3	NP_003325.2	WXS	Illumina GAIIx	Phase_I	P22314	UBA1_HUMAN			8	908	+			242			2 approximate repeats.		Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	c.725T>C	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.591141	0.66219	.	.	ENSG00000130985	ENST00000377351;ENST00000412206;ENST00000442035;ENST00000335972	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.74	4.74	0.60224	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	M	0.92923	3.36	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.72676	-0.4221	10	0.87932	D	0	-15.6029	12.5211	0.56060	0.0:0.0:0.0:1.0	.	242	P22314	UBA1_HUMAN	S	242;242;256;242	ENSP00000366568:F242S;ENSP00000415033:F242S;ENSP00000389583:F256S;ENSP00000338413:F242S	ENSP00000338413:F242S	F	+	2	0	UBA1	46945867	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	7.770000	0.85390	1.871000	0.54225	0.414000	0.27820	TTT		0.547	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		11	31	0	0	0	1	0	11	31					C	47060923	T	C	47060923	3	2	24	1	0	0	0	0	1	0	0	0	16842	1841	64	4	751	4	UBA1	23	47060923	Missense_Mutation	SNP	T	TCGA-N7-A59B-01A-11D-A28R-08	28400664	47060923	108209637	51	2516										
PGAM4	441531	broad.mit.edu	37	chrX	77224931	77224931	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	atcaatggcatctagcactgTccagagggtccggatcactc	10	12	3	1			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chrX:77224931T>A	ENST00000458128.1	-	1	204	c.205A>T	c.(205-207)Aca>Tca	p.T69S	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	69					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						TCTAGCACTGTCCAGAGGGTC	0.577																																						ENST00000458128.1																			0				endometrium(2)|lung(4)	6						c.(205-207)Aca>Tca		phosphoglycerate mutase family member 4							71	68	69					X																	77224931		2203	4295	6498	SO:0001583	missense	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224931T>A	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"phosphoglycerate mutase family 4"			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.205A>T	X.37:g.77224931T>A	ENSP00000412189:p.Thr69Ser		Somatic				ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	p.T69S	NM_001029891.2	NP_001025062.1	WXS	Illumina GAIIx	Phase_I	Q8N0Y7	PGAM4_HUMAN			1	204	-			69					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	ENST00000458128.1	37	c.205A>T	CCDS35338.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.457582	0.26161	.	.	ENSG00000226784	ENST00000458128	T	0.80123	-1.34	0.119	0.119	0.14685	Histidine phosphatase superfamily, clade-1 (2);	0.313869	0.30575	N	0.009331	T	0.69637	0.3133	L	0.39020	1.185	0.25740	N	0.985171	B	0.21225	0.053	B	0.36335	0.222	T	0.55742	-0.8093	9	.	.	.	-17.421	4.7185	0.12906	0.0:3.0E-4:0.0:0.9997	.	69	Q8N0Y7	PGAM4_HUMAN	S	69	ENSP00000412189:T69S	.	T	-	1	0	PGAM4	77111587	0.389000	0.25205	0.960000	0.40013	0.961000	0.63080	0.364000	0.20325	0.221000	0.20879	0.218000	0.17770	ACA		0.577	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		90	112	0	0	0	1	0	90	112					A	77224931	T	A	77224931	3	1	24	1	0	0	0	0	1	0	0	0	11784	1667	58	4	563	4	PGAM4	23	77224931	Missense_Mutation	SNP	T	TCGA-N7-A59B-01A-11D-A28R-08	30164008	77224931	78045629	52	2517										
GPRASP1	9737	broad.mit.edu	37	chrX	101912152	101912152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	tcaggaatctttgcttcagcCtgatcagcctagtcctgagt	9	11	4	2			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chrX:101912152C>T	ENST00000361600.5	+	5	4112	c.3311C>T	c.(3310-3312)cCt>cTt	p.P1104L	GPRASP1_ENST00000537097.1_Missense_Mutation_p.P1104L|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.P1104L|GPRASP1_ENST00000415986.1_Missense_Mutation_p.P1104L	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1104	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGCTTCAGCCTGATCAGCCT	0.488																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3310-3312)cCt>cTt		G protein-coupled receptor associated sorting protein 1							136	127	130					X																	101912152		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101912152C>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3311C>T	X.37:g.101912152C>T	ENSP00000355146:p.Pro1104Leu		Somatic				RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.P1104L|GPRASP1_ENST00000415986.1_Missense_Mutation_p.P1104L|GPRASP1_ENST00000361600.5_Missense_Mutation_p.P1104L	p.P1104L	NM_001184727.1	NP_001171656.1	WXS	Illumina GAIIx	Phase_I	Q5JY77	GASP1_HUMAN			6	4124	+			1104			OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.3311C>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	C	7.423	0.637147	0.14386	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	2.03	2.03	0.26663	.	.	.	.	.	T	0.09992	0.0245	L	0.34521	1.04	0.09310	N	1	D	0.59357	0.985	P	0.50537	0.643	T	0.21245	-1.0251	9	0.59425	D	0.04	.	6.9269	0.24419	0.0:1.0:0.0:0.0	.	1104	Q5JY77	GASP1_HUMAN	L	1104	ENSP00000393691:P1104L;ENSP00000409420:P1104L;ENSP00000355146:P1104L;ENSP00000445683:P1104L	ENSP00000355146:P1104L	P	+	2	0	GPRASP1	101798808	0.001000	0.12720	0.180000	0.23079	0.615000	0.37417	0.980000	0.29513	1.315000	0.45114	0.284000	0.19432	CCT		0.488	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		101	93	0	0	0	1	0	101	93					T	101912152	C	T	101912152	3	4	24	1	0	0	0	0	1	0	0	0	6731	681	24	3	3313	3	GPRASP1	23	101912152	Missense_Mutation	SNP	C	TCGA-N7-A59B-01A-11D-A28R-08	24687221	101912152	53358408	53	2518										
PNMA5	114824	broad.mit.edu	37	chrX	152159976	152159976	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0185185185185185	1	1	0.289918414918415	1.07683982683983	0	1	1	0	tggcattgtcttccctcctgAacattctccctaggaccctg	7	15	2	1			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chrX:152159976A>T	ENST00000439251.1	-	2	605	c.167T>A	c.(166-168)tTc>tAc	p.F56Y	PNMA5_ENST00000535214.1_Missense_Mutation_p.F56Y|PNMA5_ENST00000361887.5_Missense_Mutation_p.F56Y|PNMA5_ENST00000452693.1_Missense_Mutation_p.F56Y	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	56					positive regulation of apoptotic process (GO:0043065)					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)					ttccctcctgaacattctccc	0.522																																						ENST00000439251.1																			0				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.(166-168)tTc>tAc		paraneoplastic Ma antigen family member 5							152	130	137					X																	152159976		2203	4300	6503	SO:0001583	missense	114824				apoptosis			g.chrX:152159976A>T	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.167T>A	X.37:g.152159976A>T	ENSP00000388850:p.Phe56Tyr		Somatic				PNMA5_ENST00000361887.5_Missense_Mutation_p.F56Y|PNMA5_ENST00000452693.1_Missense_Mutation_p.F56Y|PNMA5_ENST00000535214.1_Missense_Mutation_p.F56Y	p.F56Y	NM_001103150.1	NP_001096620.1	WXS	Illumina GAIIx	Phase_I	Q96PV4	PNMA5_HUMAN			2	605	-	Acute lymphoblastic leukemia(192;6.56e-05)		56					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.167T>A	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.451844	0.63290	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693;ENST00000437210	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	3.04	3.04	0.35103	.	.	.	.	.	T	0.49338	0.1551	M	0.83118	2.625	0.28095	N	0.931667	P	0.44776	0.843	P	0.55577	0.779	T	0.43228	-0.9404	9	0.87932	D	0	-7.5807	6.9873	0.24735	1.0:0.0:0.0:0.0	.	56	Q96PV4	PNMA5_HUMAN	Y	56	ENSP00000354834:F56Y;ENSP00000445775:F56Y;ENSP00000388850:F56Y;ENSP00000392342:F56Y;ENSP00000391130:F56Y	ENSP00000354834:F56Y	F	-	2	0	PNMA5	151910632	0.999000	0.42202	0.183000	0.23137	0.791000	0.44710	3.639000	0.54339	1.456000	0.47831	0.430000	0.28490	TTC		0.522	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		56	99	0	0	0	1	0	56	99					T	152159976	A	T	152159976	3	4	24	1	0	0	0	0	1	0	0	0	12165	246	9	4	1183	4	PNMA5	23	152159976	Missense_Mutation	SNP	A	TCGA-N7-A59B-01A-11D-A28R-08	50247824	152159976	3110584	54	2519										
CLCNKA	1187	broad.mit.edu	37	chr1	16357051	16357051	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	tagtgcatgcactgcccgtgCtgatggcggtgctggcagcc	15	12	0	1			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:16357051C>G	ENST00000331433.4	+	15	1523	c.1504C>G	c.(1504-1506)Ctg>Gtg	p.L502V	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.L459V|CLCNKA_ENST00000375692.1_Missense_Mutation_p.L502V|CLCNKA_ENST00000420078.1_Missense_Mutation_p.L502V			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	502					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ACTGCCCGTGCTGATGGCGGT	0.617																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1504-1506)Ctg>Gtg		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						45	40	42					1																	16357051		2203	4297	6500	SO:0001583	missense	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16357051C>G		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1504C>G	1.37:g.16357051C>G	ENSP00000332771:p.Leu502Val		Somatic				CLCNKA_ENST00000439316.2_Missense_Mutation_p.L459V|CLCNKA_ENST00000420078.1_Missense_Mutation_p.L502V|CLCNKA_ENST00000331433.4_Missense_Mutation_p.L502V|CLCNKA_ENST00000464764.1_3'UTR	p.L502V			WXS	Illumina GAIIx	Phase_I	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	16	1632	+		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)	502					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.1504C>G	CCDS167.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383746	0.42308	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	3.89	2.97	0.34412	Chloride channel, core (2);	0.072326	0.56097	D	0.000025	D	0.93739	0.7999	L	0.50919	1.6	0.47819	D	0.999522	P;P;P;P	0.52061	0.95;0.857;0.857;0.857	P;P;P;P	0.55303	0.773;0.597;0.597;0.597	D	0.92222	0.5785	10	0.59425	D	0.04	.	7.3645	0.26766	0.0:0.7289:0.1711:0.1	.	238;459;502;502	B4DE56;E7EPH6;Q5T5Q4;P51800	.;.;.;CLCKA_HUMAN	V	502;502;459;502	ENSP00000364844:L502V;ENSP00000410353:L502V;ENSP00000414445:L459V;ENSP00000332771:L502V	ENSP00000332771:L502V	L	+	1	2	CLCNKA	16229638	0.000000	0.05858	1.000000	0.80357	0.484000	0.33280	-0.766000	0.04725	0.973000	0.38340	0.313000	0.20887	CTG		0.617	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			14	78	0	0	0	1	0	14	78					G	16357051	C	G	16357051	3	3	25	1	0	0	0	0	1	0	0	0	3471	796	28	5	1558	5	CLCNKA	1	16357051	Missense_Mutation	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08		16357051	232893570	1	2520										
PCSK9	255738	broad.mit.edu	37	chr1	55512217	55512217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	ccttgaagttgccccatgtcGactacatcgaggaggactcc	10	13	0	1			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:55512217G>A	ENST00000302118.5	+	3	711	c.421G>A	c.(421-423)Gac>Aac	p.D141N	PCSK9_ENST00000452118.2_Missense_Mutation_p.D141N|PCSK9_ENST00000543384.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	141					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GCCCCATGTCGACTACATCGA	0.602																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(421-423)Gac>Aac		proprotein convertase subtilisin/kexin type 9							96	97	96					1																	55512217		2203	4300	6503	SO:0001583	missense	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55512217G>A	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.421G>A	1.37:g.55512217G>A	ENSP00000303208:p.Asp141Asn		Somatic				PCSK9_ENST00000543384.1_Intron|PCSK9_ENST00000452118.2_Missense_Mutation_p.D141N	p.D141N	NM_174936.3	NP_777596.2	WXS	Illumina GAIIx	Phase_I	Q8NBP7	PCSK9_HUMAN			3	711	+			141					A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	c.421G>A	CCDS603.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950807	0.34471	.	.	ENSG00000169174	ENST00000302118;ENST00000452118	T;T	0.72505	-0.66;-0.66	4.73	-1.29	0.09288	Proteinase inhibitor, propeptide (1);Proteinase inhibitor I9, subtilisin propeptide (1);	0.545520	0.16955	N	0.192711	T	0.56702	0.2003	L	0.52573	1.65	0.29736	N	0.837496	P	0.49447	0.924	B	0.38296	0.27	T	0.57470	-0.7806	10	0.56958	D	0.05	-6.3274	8.0311	0.30465	0.1477:0.3988:0.4535:0.0	.	141	Q8NBP7	PCSK9_HUMAN	N	141	ENSP00000303208:D141N;ENSP00000401598:D141N	ENSP00000303208:D141N	D	+	1	0	PCSK9	55284805	0.358000	0.24947	0.023000	0.16930	0.494000	0.33585	1.067000	0.30616	-0.223000	0.09943	0.561000	0.74099	GAC		0.602	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		33	48	0	0	0	1	0	33	48					A	55512217	G	A	55512217	3	1	25	1	0	0	0	0	1	0	0	0	11615	1058	37	1	431	1	PCSK9	1	55512217	Missense_Mutation	SNP	G	TCGA-N8-A4PI-01A-21D-A28R-08	39155166	55512217	193738404	2	2521										
SYDE2	84144	broad.mit.edu	37	chr1	85656053	85656053	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	ataccaaggtcatcatcctcAggaatgggattgtaccatat	8	9	3	0			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:85656053A>G	ENST00000341460.5	-	2	1177	c.1128T>C	c.(1126-1128)ccT>ccC	p.P376P		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	376					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)		CATCATCCTCAGGAATGGGAT	0.418																																						ENST00000341460.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(1126-1128)ccT>ccC		synapse defective 1, Rho GTPase, homolog 2 (C. elegans)							79	78	78					1																	85656053		2067	4208	6275	SO:0001819	synonymous_variant	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85656053A>G	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.1128T>C	1.37:g.85656053A>G			Somatic					p.P376P	NM_032184.1	NP_115560.1	WXS	Illumina GAIIx	Phase_I	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	2	1177	-			376					Q5VT96|Q8NDB8|Q9H8A6	Silent	SNP	ENST00000341460.5	37	c.1128T>C	CCDS44169.1																																																																																				0.418	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			8	16	0	0	0	1	0	8	16					G	85656053	A	G	85656053	2	3	25	1	0	0	0	0	0	0	0	1	15451	175	7	4		4	SYDE2	1	85656053	Silent	SNP	A	TCGA-N8-A4PI-01A-21D-A28R-08	30143836	85656053	163594568	3	2522										
PTGFRN	5738	broad.mit.edu	37	chr1	117491980	117491980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	ggctcccgcgtgttggcgcgGcttgaccgtgattccctggt	15	13	0	2			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:117491980G>A	ENST00000393203.2	+	4	1146	c.999G>A	c.(997-999)cgG>cgA	p.R333R		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	333	Ig-like C2-type 3.				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)		TGTTGGCGCGGCTTGACCGTG	0.577																																						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.(997-999)cgG>cgA		prostaglandin F2 receptor inhibitor							109	90	97					1																	117491980		2203	4300	6503	SO:0001819	synonymous_variant	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117491980G>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.999G>A	1.37:g.117491980G>A			Somatic					p.R333R	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)	4	1146	+	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)	333			Ig-like C2-type 3.		Q5VVU9|Q8N2K6	Silent	SNP	ENST00000393203.2	37	c.999G>A	CCDS890.1																																																																																				0.577	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		42	54	0	0	0	1	0	42	54					A	117491980	G	A	117491980	2	1	25	1	0	0	0	0	0	0	0	1	12763	1190	42	3		3	PTGFRN	1	117491980	Silent	SNP	G	TCGA-N8-A4PI-01A-21D-A28R-08	31835927	117491980	131758641	4	2523										
CD1B	910	broad.mit.edu	37	chr1	158298715	158298715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	accacccacaactcaccggcGcctcatataccataatgcaa	4	17	2	0	rs202176904		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:158298715G>A	ENST00000368168.3	-	5	1083	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	326					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACTCACCGGCGCCTCATATAC	0.378																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(976-978)Cgc>Tgc		CD1b molecule							83	83	83					1																	158298715		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.chr1:158298715G>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.976C>T	1.37:g.158298715G>A	ENSP00000357150:p.Arg326Cys		Somatic					p.R326C	NM_001764.2	NP_001755.1	WXS	Illumina GAIIx	Phase_I	P29016	CD1B_HUMAN			5	1083	-	all_hematologic(112;0.0378)		326					Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.976C>T	CCDS1176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.19|14.19	2.460146|2.460146	0.43736|0.43736	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000451207|ENST00000368168	.|T	.|0.01584	.|4.75	4.26|4.26	4.26|4.26	0.50523|0.50523	.|.	.|0.166929	.|0.29046	.|N	.|0.013314	T|T	0.03827|0.03827	0.0108|0.0108	M|M	0.79011|0.79011	2.435|2.435	0.09310|0.09310	N|N	1|1	.|B;D	.|0.89917	.|0.214;1.0	.|B;P	.|0.60886	.|0.037;0.88	T|T	0.16512|0.16512	-1.0400|-1.0400	5|10	.|0.51188	.|T	.|0.08	.|.	12.3598|12.3598	0.55197|0.55197	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|326;271	.|P29016;P29016-2	.|CD1B_HUMAN;.	V|C	238|326	.|ENSP00000357150:R326C	.|ENSP00000357150:R326C	A|R	-|-	2|1	0|0	CD1B|CD1B	156565339|156565339	0.005000|0.005000	0.15991|0.15991	0.083000|0.083000	0.20561|0.20561	0.470000|0.470000	0.32858|0.32858	1.700000|1.700000	0.37815|0.37815	2.365000|2.365000	0.80145|0.80145	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.378	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		13	40	0	0	0	1	0	13	40					A	158298715	G	A	158298715	3	1	25	1	0	0	0	0	1	0	0	0	2977	1087	38	1	33	1	CD1B	1	158298715	Missense_Mutation	SNP	G	TCGA-N8-A4PI-01A-21D-A28R-08	40806735	158298715	90951906	5	2524										
CR1	1378	broad.mit.edu	37	chr1	207679361	207679361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	gaatgccgccctggttattcCggaagaccgttttctatcat	9	11	2	1	rs142605009	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:207679361C>T	ENST00000367049.4	+	2	234	c.234C>T	c.(232-234)tcC>tcT	p.S78S	CR1_ENST00000367053.1_Silent_p.S78S|CR1_ENST00000367052.1_Silent_p.S78S|CR1_ENST00000367051.1_Silent_p.S78S|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Silent_p.S78S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	78	Sushi 1. {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						CTGGTTATTCCGGAAGACCGT	0.483													T|||	4	0.000798722	0	0.0029	5008	,	,		18695	0		0.002	False		,,,				2504	0					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.(232-234)tcC>tcT		complement component (3b/4b) receptor 1 (Knops blood group)		T	,	0,3674		0,0,1837	165	153	156		234,234	-8.3	0	1	dbSNP_134	156	3,8153		0,3,4075	no	coding-synonymous,coding-synonymous	CR1	NM_000573.3,NM_000651.4	,	0,3,5912	TT,TC,CC		0.0368,0.0,0.0254	,	78/2040,78/2490	207679361	3,11827	1837	4078	5915	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207679361C>T	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.234C>T	1.37:g.207679361C>T			Somatic				CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367053.1_Silent_p.S78S|CR1_ENST00000367051.1_Silent_p.S78S|CR1_ENST00000367052.1_Silent_p.S78S|CR1_ENST00000400960.2_Silent_p.S78S	p.S78S	NM_000651.4	NP_000642.3	WXS	Illumina GAIIx	Phase_I	P17927	CR1_HUMAN			2	234	+			78			Sushi 1.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.234C>T	CCDS44308.1	4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	T	3.533	-0.095346	0.07010	0.0	3.68E-4	ENSG00000203710	ENST00000529814	.	.	.	4.13	-8.26	0.01021	.	.	.	.	.	T	0.11024	0.0269	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.11591	-1.0581	4	.	.	.	.	1.5099	0.02494	0.1693:0.3336:0.1682:0.3289	.	.	.	.	L	54	.	.	P	+	2	0	CR1	205745984	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.212000	0.00273	-2.903000	0.00311	-3.477000	0.00034	CCG		0.483	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		15	132	0	0	0	1	0	15	132					T	207679361	C	T	207679361	2	4	25	1	0	0	0	0	0	0	0	1	3842	639	23	1		1	CR1	1	207679361	Silent	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08	49380646	207679361	41571260	6	2525										
C2orf16	84226	broad.mit.edu	37	chr2	27801239	27801239	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	ccagggccatcccttcaaatCgtaaaatctgaggagttagc	9	11	2	1			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:27801239C>T	ENST00000408964.2	+	1	1851	c.1800C>T	c.(1798-1800)atC>atT	p.I600I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	600						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)					CCCTTCAAATCGTAAAATCTG	0.393																																						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.(1798-1800)atC>atT		chromosome 2 open reading frame 16							56	52	53					2																	27801239		1849	4088	5937	SO:0001819	synonymous_variant	84226							g.chr2:27801239C>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.1800C>T	2.37:g.27801239C>T			Somatic					p.I600I	NM_032266.3	NP_115642.3	WXS	Illumina GAIIx	Phase_I	Q68DN1	CB016_HUMAN			1	1851	+	Acute lymphoblastic leukemia(172;0.155)		600					B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.1800C>T	CCDS42666.1																																																																																				0.393	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		12	17	0	0	0	1	0	12	17					T	27801239	C	T	27801239	2	4	25	1	0	0	0	0	0	0	0	1	2159	874	31	1		1	C2orf16	2	27801239	Silent	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08		27801239	215398134	7	2526										
SMEK2	57223	broad.mit.edu	37	chr2	55792098	55792098	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	atttagtcttcaatcctttgAatgtctgaacatattcaatc	4	8	4	2			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:55792098A>T	ENST00000345102.5	-	14	2316	c.2015T>A	c.(2014-2016)tTc>tAc	p.F672Y	SMEK2_ENST00000272313.5_Missense_Mutation_p.F587Y|SNORA12_ENST00000390873.1_RNA|SMEK2_ENST00000407823.3_Missense_Mutation_p.F640Y	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	672					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)			CAATCCTTTGAATGTCTGAAC	0.313																																						ENST00000272313.5																			0				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(1759-1761)tTc>tAc		SMEK homolog 2, suppressor of mek1 (Dictyostelium)							150	143	145					2																	55792098		2200	4298	6498	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55792098A>T	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.2015T>A	2.37:g.55792098A>T	ENSP00000339769:p.Phe672Tyr		Somatic				SMEK2_ENST00000345102.5_Missense_Mutation_p.F672Y|SMEK2_ENST00000407823.3_Missense_Mutation_p.F640Y	p.F587Y	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)		12	2087	-			672					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.1760T>A	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.920258	0.92249	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.41400	1.0;1.0;1.0	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	M	0.84846	2.72	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	0.91635	0.999;0.985;0.996;0.994;0.988	T	0.74668	-0.3588	10	0.87932	D	0	-7.5493	14.926	0.70878	1.0:0.0:0.0:0.0	.	640;672;587;672;106	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9;Q5MIZ7-5	.;P4R3B_HUMAN;.;.;.	Y	587;640;672	ENSP00000272313:F587Y;ENSP00000385912:F640Y;ENSP00000339769:F672Y	ENSP00000272313:F587Y	F	-	2	0	SMEK2	55645602	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.308000	0.96247	2.018000	0.59344	0.533000	0.62120	TTC		0.313	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		6	15	0	0	0	1	0	6	15					T	55792098	A	T	55792098	3	4	25	1	0	0	0	0	1	0	0	0	14809	246	9	4	550	4	SMEK2	2	55792098	Missense_Mutation	SNP	A	TCGA-N8-A4PI-01A-21D-A28R-08	27990859	55792098	187407275	8	2527										
ALMS1	7840	broad.mit.edu	37	chr2	73613273	73613273	+	Frame_Shift_Del	DEL	C	C	-													0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	ggattttgcctccgctgtcgCccccgcagcaccgctactcg							TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:73613273delC	ENST00000264448.6	+	1	388	c.277delC	c.(277-279)cccfs	p.P94fs	ALMS1_ENST00000377715.1_Frame_Shift_Del_p.P94fs|ALMS1_ENST00000409009.1_Frame_Shift_Del_p.P94fs	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	94					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						TCCGCTGTCGCCCCCGCAGCA	0.701																																						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.(277-279)ccfs		Alstrom syndrome 1							7	10	9					2																	73613273		1876	4009	5885	SO:0001589	frameshift_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73613273delC	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.277delC	2.37:g.73613273delC	ENSP00000264448:p.Pro94fs		Somatic				ALMS1_ENST00000377715.1_Frame_Shift_Del_p.P94fs|ALMS1_ENST00000409009.1_Frame_Shift_Del_p.P94fs	p.P94fs	NM_015120.4	NP_055935.4	WXS	Illumina GAIIx	Phase_I	Q8TCU4	ALMS1_HUMAN			1	388	+			94					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Frame_Shift_Del	DEL	ENST00000264448.6	37	c.277delC	CCDS42697.1																																																																																				0.701	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		2	4						2	4	---	---	---	---	-	73613273	C	-	73613273	7	5	25	1	0	1	0	1	0	0	0	0	535	739	26	0	279	0	ALMS1	2	73613273	Frame_Shift_Del	DEL	C	TCGA-N8-A4PI-01A-21D-A28R-08	17821175	73613273	169586100	9	2528										
LIPT1	51601	broad.mit.edu	37	chr2	99778887	99778887	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	caaaagatttgaccttttacTtgatggacagtttaaaatct	6	6	1	3			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:99778887T>C	ENST00000393473.2	+	3	691	c.467T>C	c.(466-468)cTt>cCt	p.L156P	LIPT1_ENST00000393471.2_Missense_Mutation_p.L156P|LIPT1_ENST00000340066.1_Missense_Mutation_p.L156P|LIPT1_ENST00000393477.3_Missense_Mutation_p.L156P|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393474.3_Missense_Mutation_p.L156P	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	156	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				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)	GACCTTTTACTTGATGGACAG	0.413																																					GBM(84;665 1268 21657 25485 30647)	ENST00000393477.3																			0				large_intestine(6)|lung(1)	7						c.(466-468)cTt>cCt		lipoyltransferase 1	Lipoic Acid(DB00166)						102	95	98					2																	99778887		2203	4300	6503	SO:0001583	missense	51601				lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity	g.chr2:99778887T>C	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.467T>C	2.37:g.99778887T>C	ENSP00000377115:p.Leu156Pro		Somatic				MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Missense_Mutation_p.L156P|LIPT1_ENST00000393473.2_Missense_Mutation_p.L156P|LIPT1_ENST00000393474.3_Missense_Mutation_p.L156P|LIPT1_ENST00000340066.1_Missense_Mutation_p.L156P	p.L156P	NM_145197.2	NP_660198.1	WXS	Illumina GAIIx	Phase_I	Q9Y234	LIPT_HUMAN			4	819	+			156					Q4ZFZ1	Missense_Mutation	SNP	ENST00000393473.2	37	c.467T>C	CCDS2039.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.847017	0.71603	.	.	ENSG00000144182	ENST00000393473;ENST00000393477;ENST00000393474;ENST00000340066;ENST00000393471;ENST00000434566	D;D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51;-3.51	5.07	5.07	0.68467	Biotin/lipoate A/B protein ligase (1);	0.000000	0.64402	D	0.000001	D	0.97458	0.9168	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98266	1.0501	10	0.87932	D	0	-13.6363	14.1595	0.65438	0.0:0.0:0.0:1.0	.	156	Q9Y234	LIPT_HUMAN	P	156	ENSP00000377115:L156P;ENSP00000377118:L156P;ENSP00000377116:L156P;ENSP00000342071:L156P;ENSP00000377114:L156P;ENSP00000393591:L156P	ENSP00000342071:L156P	L	+	2	0	LIPT1	99145319	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.819000	0.86621	2.129000	0.65627	0.528000	0.53228	CTT		0.413	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253128.1	NM_015929		10	58	0	0	0	1	0	10	58					C	99778887	T	C	99778887	3	2	25	1	0	0	0	0	1	0	0	0	8838	1609	56	4	469	4	LIPT1	2	99778887	Missense_Mutation	SNP	T	TCGA-N8-A4PI-01A-21D-A28R-08	26165614	99778887	143420486	10	2529										
ARPP21	10777	broad.mit.edu	37	chr3	35778809	35778809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	tccccgcagccccaacagcaGgtccagccaccgcagccaca	8	21	0	0			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:35778809G>A	ENST00000187397.4	+	16	2055	c.1599G>A	c.(1597-1599)caG>caA	p.Q533Q	ARPP21_ENST00000417925.1_Silent_p.Q499Q|ARPP21_ENST00000337271.5_Silent_p.Q479Q|ARPP21_ENST00000458225.1_Silent_p.Q499Q|ARPP21_ENST00000444190.1_Silent_p.Q479Q	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	533	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCCAACAGCAGGTCCAGCCAC	0.647																																						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.(1597-1599)caG>caA		cAMP-regulated phosphoprotein, 21kDa							26	29	28					3																	35778809		2198	4286	6484	SO:0001819	synonymous_variant	10777					cytoplasm	nucleic acid binding	g.chr3:35778809G>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1599G>A	3.37:g.35778809G>A			Somatic				ARPP21_ENST00000458225.1_Silent_p.Q499Q|ARPP21_ENST00000337271.5_Silent_p.Q479Q|ARPP21_ENST00000417925.1_Silent_p.Q499Q|ARPP21_ENST00000444190.1_Silent_p.Q479Q	p.Q533Q	NM_016300.4	NP_057384.2	WXS	Illumina GAIIx	Phase_I	Q9UBL0	ARP21_HUMAN			16	2055	+			533			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Silent	SNP	ENST00000187397.4	37	c.1599G>A	CCDS2661.1																																																																																				0.647	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		21	30	0	0	0	1	0	21	30					A	35778809	G	A	35778809	2	1	25	1	0	0	0	0	0	0	0	1	978	991	35	3		3	ARPP21	3	35778809	Silent	SNP	G	TCGA-N8-A4PI-01A-21D-A28R-08		35778809	162243621	11	2530										
MYRIP	25924	broad.mit.edu	37	chr3	40286039	40286039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	gcactgatgagacccatctgGcggatctggaggaccaggtg	15	10	2	2			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:40286039G>A	ENST00000302541.6	+	13	2545	c.2203G>A	c.(2203-2205)Gcg>Acg	p.A735T	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.A548T|MYRIP_ENST00000396217.3_Missense_Mutation_p.A646T|MYRIP_ENST00000425621.1_Missense_Mutation_p.A670T|MYRIP_ENST00000444716.1_Missense_Mutation_p.A735T	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	735	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GACCCATCTGGCGGATCTGGA	0.607																																						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.(2203-2205)Gcg>Acg		myosin VIIA and Rab interacting protein							60	57	58					3																	40286039		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40286039G>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.2203G>A	3.37:g.40286039G>A	ENSP00000301972:p.Ala735Thr		Somatic				MYRIP_ENST00000425621.1_Missense_Mutation_p.A670T|MYRIP_ENST00000396217.3_Missense_Mutation_p.A646T|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.A548T|MYRIP_ENST00000444716.1_Missense_Mutation_p.A735T	p.A735T	NM_015460.2	NP_056275.2	WXS	Illumina GAIIx	Phase_I	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	13	2545	+			735			Actin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.2203G>A	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143611	0.94603	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	5.54	4.67	0.58626	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.057956	0.64402	D	0.000002	T	0.55162	0.1903	M	0.62723	1.935	0.45015	D	0.998031	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.87578	0.997;0.998;0.99	T	0.54879	-0.8227	9	.	.	.	.	12.4508	0.55677	0.0817:0.0:0.9183:0.0	.	646;670;735	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	T	735;735;670;646;548	ENSP00000398665:A735T;ENSP00000301972:A735T;ENSP00000389323:A670T;ENSP00000379519:A646T;ENSP00000438297:A548T	.	A	+	1	0	MYRIP	40261043	1.000000	0.71417	0.974000	0.42286	0.997000	0.91878	9.318000	0.96334	1.483000	0.48342	0.655000	0.94253	GCG		0.607	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		23	24	0	0	0	1	0	23	24					A	40286039	G	A	40286039	3	1	25	1	0	0	0	0	1	0	0	0	10109	1203	42	3	2249	3	MYRIP	3	40286039	Missense_Mutation	SNP	G	TCGA-N8-A4PI-01A-21D-A28R-08	4507230	40286039	157736391	12	2531										
PTPN23	25930	broad.mit.edu	37	chr3	47452431	47452431	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	ccctcagcctccccatccccCactggcatatggtcctgccc	6	22	1	0			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:47452431C>G	ENST00000265562.4	+	20	3220	c.3143C>G	c.(3142-3144)cCa>cGa	p.P1048R	PTPN23_ENST00000431726.1_Missense_Mutation_p.P922R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1048	His.|Pro-rich.				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)		CCCCATCCCCCACTGGCATAT	0.672																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(3142-3144)cCa>cGa		protein tyrosine phosphatase, non-receptor type 23							25	29	28					3																	47452431		2203	4298	6501	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47452431C>G	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.3143C>G	3.37:g.47452431C>G	ENSP00000265562:p.Pro1048Arg		Somatic				PTPN23_ENST00000431726.1_Missense_Mutation_p.P922R	p.P1048R	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)	20	3220	+			1048			His.|Pro-rich.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.3143C>G	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	2.943	-0.218442	0.06101	.	.	ENSG00000076201	ENST00000265562	T	0.02863	4.13	4.48	3.59	0.41128	.	1.497460	0.03868	N	0.275161	T	0.02649	0.0080	N	0.14661	0.345	0.29515	N	0.853959	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42481	-0.9449	10	0.10902	T	0.67	-2.9851	11.4144	0.49943	0.3243:0.6757:0.0:0.0	.	922;1048	B4DST5;Q9H3S7	.;PTN23_HUMAN	R	1048	ENSP00000265562:P1048R	ENSP00000265562:P1048R	P	+	2	0	PTPN23	47427435	0.000000	0.05858	0.198000	0.23420	0.032000	0.12392	0.212000	0.17497	1.063000	0.40649	0.563000	0.77884	CCA		0.672	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		24	28	0	0	0	1	0	24	28					G	47452431	C	G	47452431	3	3	25	1	0	0	0	0	1	0	0	0	12803	594	21	5	3221	5	PTPN23	3	47452431	Missense_Mutation	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08	7166392	47452431	150569999	13	2532										
POLQ	10721	broad.mit.edu	37	chr3	121260219	121260219	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	gaggtagtatttcttctcttTagccacagaaacaaagggaa	9	7	2	1			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:121260219T>A	ENST00000264233.5	-	3	579	c.451A>T	c.(451-453)Aaa>Taa	p.K151*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	151	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTCTTCTCTTTAGCCACAGAA	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.(451-453)Aaa>Taa	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							112	128	122					3																	121260219		2203	4300	6503	SO:0001587	stop_gained	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.chr3:121260219T>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.451A>T	3.37:g.121260219T>A	ENSP00000264233:p.Lys151*		Somatic					p.K151*	NM_199420.3	NP_955452.3	WXS	Illumina GAIIx	Phase_I	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	3	579	-			151			Helicase ATP-binding.		O95160|Q6VMB5	Nonsense_Mutation	SNP	ENST00000264233.5	37	c.451A>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	T	39	7.364750	0.98238	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	.	.	.	5.74	5.74	0.90152	.	0.226724	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0476	0.80731	0.0:0.0:0.0:1.0	.	.	.	.	X	151;286	.	ENSP00000264233:K151X	K	-	1	0	POLQ	122742909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.649000	0.83500	2.190000	0.69967	0.460000	0.39030	AAA		0.358	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		47	54	0	0	0	1	0	47	54					A	121260219	T	A	121260219	4	1	25	1	0	0	0	0	0	1	0	0	12217	1763	61	4	7433	4	POLQ	3	121260219	Nonsense_Mutation	SNP	T	TCGA-N8-A4PI-01A-21D-A28R-08	73807788	121260219	76762211	14	2533										
ILDR1	286676	broad.mit.edu	37	chr3	121724124	121724124	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	gatcttgcgctgccggtaatCtacccccagcacgggctcat	10	15	3	0			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:121724124C>T	ENST00000344209.5	-	3	472	c.346G>A	c.(346-348)Gat>Aat	p.D116N	ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Missense_Mutation_p.D116N|ILDR1_ENST00000462014.1_Missense_Mutation_p.D128N|ILDR1_ENST00000273691.3_Missense_Mutation_p.D116N	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	116	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)		TGCCGGTAATCTACCCCCAGC	0.652																																						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.(346-348)Gat>Aat		immunoglobulin-like domain containing receptor 1							39	38	38					3																	121724124		2203	4300	6503	SO:0001583	missense	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121724124C>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.346G>A	3.37:g.121724124C>T	ENSP00000345667:p.Asp116Asn		Somatic				ILDR1_ENST00000344209.5_Missense_Mutation_p.D116N|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.D128N|ILDR1_ENST00000393631.1_Missense_Mutation_p.D116N	p.D116N	NM_175924.3	NP_787120.1	WXS	Illumina GAIIx	Phase_I	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	451	-			116			Ig-like V-type.		Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	c.346G>A	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530610	0.85706	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.63	5.63	0.86233	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.087482	0.85682	D	0.000000	T	0.63474	0.2514	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.71656	0.974;0.922;0.964;0.974	T	0.58847	-0.7564	10	0.36615	T	0.2	-18.4019	17.5361	0.87832	0.0:1.0:0.0:0.0	.	116;116;116;128	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	N	116;116;116;128	ENSP00000273691:D116N;ENSP00000345667:D116N;ENSP00000377251:D116N;ENSP00000419414:D128N	ENSP00000273691:D116N	D	-	1	0	ILDR1	123206814	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.442000	0.80503	2.802000	0.96397	0.563000	0.77884	GAT		0.652	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		13	26	0	0	0	1	0	13	26					T	121724124	C	T	121724124	3	4	25	1	0	0	0	0	1	0	0	0	7718	913	32	3	1182	3	ILDR1	3	121724124	Missense_Mutation	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08	463905	121724124	76298306	15	2534										
STAG1	10274	broad.mit.edu	37	chr3	136323151	136323151	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	aataaaaacttaaaatttacCtgcattgcacttttccccag	3	10	0	0			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:136323151C>T	ENST00000383202.2	-	4	553	c.297G>A	c.(295-297)caG>caA	p.Q99Q	STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000236698.5_Splice_Site_p.Q99Q|STAG1_ENST00000480733.1_Splice_Site_p.Q99Q	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	99					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						TAAAATTTACCTGCATTGCAC	0.403																																						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.e4+1		stromal antigen 1							136	133	134					3																	136323151		2203	4300	6503	SO:0001630	splice_region_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136323151C>T	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.297+1G>A	3.37:g.136323151C>T			Somatic				STAG1_ENST00000236698.5_Splice_Site_p.Q99_splice|STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000480733.1_Splice_Site_p.Q99_splice	p.Q99_splice	NM_005862.2	NP_005853.2	WXS	Illumina GAIIx	Phase_I	Q8WVM7	STAG1_HUMAN			4	553	-			99					O00539|Q6P275	Splice_Site	SNP	ENST00000383202.2	37	c.297_splice	CCDS3090.1																																																																																				0.403	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862	Silent	43	48	0	0	0	1	0	43	48					T	136323151	C	T	136323151	5	4	25	1	0	0	0	0	0	0	1	0	15257	695	24	3	3603	3	STAG1	3	136323151	Splice_Site	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08	14599027	136323151	61699279	16	2535										
SLAIN2	57606	broad.mit.edu	37	chr4	48385799	48385799	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	tatgcaacctcaggcttcagCcagtaagtatccttcttatg	7	11	3	0			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:48385799C>A	ENST00000264313.6	+	6	1776	c.1358C>A	c.(1357-1359)gCc>gAc	p.A453D	SLAIN2_ENST00000512093.1_Missense_Mutation_p.A260D	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	453					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						CAGGCTTCAGCCAGTAAGTAT	0.353																																						ENST00000264313.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						c.(1357-1359)gCc>gAc		SLAIN motif family, member 2							65	62	63					4																	48385799		1852	4096	5948	SO:0001583	missense	57606					centrosome		g.chr4:48385799C>A	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.1358C>A	4.37:g.48385799C>A	ENSP00000264313:p.Ala453Asp		Somatic				SLAIN2_ENST00000512093.1_Missense_Mutation_p.A260D	p.A453D	NM_020846.1	NP_065897.1	WXS	Illumina GAIIx	Phase_I	Q9P270	SLAI2_HUMAN			6	1776	+			453					A8K4P1|Q8N5R3	Missense_Mutation	SNP	ENST00000264313.6	37	c.1358C>A	CCDS47051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.599438|4.599438	0.87055|0.87055	.|.	.|.	ENSG00000109171|ENSG00000109171	ENST00000264313;ENST00000512093|ENST00000510595	.|.	.|.	.|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	0.790707|.	0.11400|.	N|.	0.567925|.	T|T	0.74114|0.74114	0.3674|0.3674	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999994|0.999994	D;P|.	0.53619|.	0.961;0.944|.	P;P|.	0.50617|.	0.483;0.646|.	T|T	0.76756|0.76756	-0.2842|-0.2842	9|6	0.10636|0.87932	T|D	0.68|0	-7.6078|-7.6078	18.912|18.912	0.92489|0.92489	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	123;453|.	Q9H705;Q9P270|.	.;SLAI2_HUMAN|.	D|R	453;260|35	.|.	ENSP00000264313:A453D|ENSP00000424473:S35R	A|S	+|+	2|3	0|2	SLAIN2|SLAIN2	48080556|48080556	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	6.924000|6.924000	0.75823|0.75823	2.525000|2.525000	0.85131|0.85131	0.561000|0.561000	0.74099|0.74099	GCC|AGC		0.353	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4	NM_020846		6	12	1	0	0.00116845	1	0.00118269	6	12					A	48385799	C	A	48385799	3	1	25	1	0	0	0	0	1	0	0	0	14381	739	26	5	1380	5	SLAIN2	4	48385799	Missense_Mutation	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08		48385799	142768477	17	2536										
EPHA5	2044	broad.mit.edu	37	chr4	66356251	66356251	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	tttcaggccgctttgccgggGaaggtacctgacatgaccgc	13	12	1	2			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:66356251G>A	ENST00000273854.3	-	5	1846	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.P416S|EPHA5_ENST00000511294.1_Missense_Mutation_p.P416S	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	416	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTTTGCCGGGGAAGGTACCTG	0.498										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1246-1248)Ccc>Tcc		EPH receptor A5							121	95	104					4																	66356251		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.chr4:66356251G>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1246C>T	4.37:g.66356251G>A	ENSP00000273854:p.Pro416Ser	TSP Lung(17;0.13)	Somatic				EPHA5_ENST00000511294.1_Missense_Mutation_p.P416S|EPHA5_ENST00000354839.4_Missense_Mutation_p.P416S|EPHA5_ENST00000432638.2_Intron	p.P416S	NM_004439.5	NP_004430.4	WXS	Illumina GAIIx	Phase_I	P54756	EPHA5_HUMAN			5	1846	-			416			Fibronectin type-III 1.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1246C>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090422	0.94149	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.56103	0.48;0.48;0.48	6.08	6.08	0.98989	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000009	T	0.81019	0.4736	M	0.92507	3.315	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;D;D;D	0.97110	1.0;0.951;0.999;1.0	D	0.84022	0.0354	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	416;416;416;416	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	S	416	ENSP00000273854:P416S;ENSP00000346899:P416S;ENSP00000427638:P416S	ENSP00000273854:P416S	P	-	1	0	EPHA5	66038846	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	CCC		0.498	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		10	42	0	0	0	1	0	10	42					A	66356251	G	A	66356251	3	1	25	1	0	0	0	0	1	0	0	0	5172	1174	41	3	1923	3	EPHA5	4	66356251	Missense_Mutation	SNP	G	TCGA-N8-A4PI-01A-21D-A28R-08	17970452	66356251	124798025	18	2537										
USP53	54532	broad.mit.edu	37	chr4	120213506	120213506	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	atttcagatcacatgtacatGaagacaatggaaagttattt	7	5	2	3			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:120213506G>A	ENST00000274030.6	+	19	3541	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	USP53_ENST00000450251.1_Missense_Mutation_p.E788K	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						ACATGTACATGAAGACAATGG	0.328																																						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.(2362-2364)Gaa>Aaa		ubiquitin specific peptidase 53							50	45	47					4																	120213506		1844	4094	5938	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120213506G>A	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.2362G>A	4.37:g.120213506G>A	ENSP00000274030:p.Glu788Lys		Somatic				USP53_ENST00000274030.6_Missense_Mutation_p.E788K	p.E788K			WXS	Illumina GAIIx	Phase_I	Q70EK8	UBP53_HUMAN			15	2906	+			788						Missense_Mutation	SNP	ENST00000274030.6	37	c.2362G>A	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269020	0.59540	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.52526	0.66;0.66	5.76	5.76	0.90799	.	0.501216	0.21447	N	0.074400	T	0.56156	0.1966	M	0.61703	1.905	0.36516	D	0.86988	P	0.52463	0.953	P	0.47603	0.551	T	0.65693	-0.6106	10	0.72032	D	0.01	-24.7808	18.5232	0.90962	0.0:0.0:1.0:0.0	.	788	Q70EK8	UBP53_HUMAN	K	788	ENSP00000274030:E788K;ENSP00000409906:E788K	ENSP00000274030:E788K	E	+	1	0	USP53	120432954	0.999000	0.42202	0.119000	0.21687	0.225000	0.24961	4.259000	0.58828	2.880000	0.98712	0.650000	0.86243	GAA		0.328	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		11	12	0	0	0	1	0	11	12					A	120213506	G	A	120213506	3	1	25	1	0	0	0	0	1	0	0	0	17099	1291	45	3	2420	3	USP53	4	120213506	Missense_Mutation	SNP	G	TCGA-N8-A4PI-01A-21D-A28R-08	53857255	120213506	70940770	19	2538										
FBXW7	55294	broad.mit.edu	37	chr4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	ttcatgaagatgcatacaacGcacagtggaagtatgcccat	9	9	1	2			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		99	Substitution - Missense(98)|Unknown(1)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(41)|large_intestine(27)|endometrium(20)|stomach(6)|biliary_tract(4)|pancreas(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1393-1395)Cgt>Tgt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							260	223	235					4																	153249385		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249385G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1393C>T	4.37:g.153249385G>A	ENSP00000281708:p.Arg465Cys		Somatic				FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C	p.R465C	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			9	2622	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	465		R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1393C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909959	0.92107	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.05	6.05	0.98169	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	0.67287	0.2877	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.67130	-0.5748	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:0.0:1.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	465;347;385;289	ENSP00000281708:R465C;ENSP00000296555:R347C;ENSP00000263981:R385C;ENSP00000377528:R289C	ENSP00000263981:R385C	R	-	1	0	FBXW7	153468835	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CGT		0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			55	71	0	0	0	1	0	55	71					A	153249385	G	A	153249385	3	1	25	1	0	0	0	0	1	0	0	0	5777	1087	38	1	746	1	FBXW7	4	153249385	Missense_Mutation	SNP	G	TCGA-N8-A4PI-01A-21D-A28R-08	33035879	153249385	37904891	20	2539										
DNAH5	1767	broad.mit.edu	37	chr5	13865875	13865875	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	acagtttctatgacactgttGtacagagtatatattttctg	7	6	2	2			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:13865875G>T	ENST00000265104.4	-	27	4361	c.4257C>A	c.(4255-4257)taC>taA	p.Y1419*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1419	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)					TGACACTGTTGTACAGAGTAT	0.353									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(4255-4257)taC>taA		dynein, axonemal, heavy chain 5							55	57	57					5																	13865875		2203	4299	6502	SO:0001587	stop_gained	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.chr5:13865875G>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.4257C>A	5.37:g.13865875G>T	ENSP00000265104:p.Tyr1419*		Somatic				CTB-51A17.1_ENST00000503244.1_RNA	p.Y1419*	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			27	4361	-	Lung NSC(4;0.00476)		1419			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.4257C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	45	11.718028	0.99594	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.9	3.04	0.35103	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1935	0.43041	0.3034:0.0:0.6966:0.0	.	.	.	.	X	1419	.	ENSP00000265104:Y1419X	Y	-	3	2	DNAH5	13918875	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.847000	0.55895	0.784000	0.33661	0.650000	0.86243	TAC		0.353	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		21	19	1	0	8.10497e-08	1	8.62452e-08	21	19					T	13865875	G	T	13865875	4	4	25	1	0	0	0	0	0	1	0	0	4606	1372	48	5	9829	5	DNAH5	5	13865875	Nonsense_Mutation	SNP	G	TCGA-N8-A4PI-01A-21D-A28R-08		13865875	167049385	21	2540										
PIK3R1	5295	broad.mit.edu	37	chr5	67589269	67589270	+	Frame_Shift_Ins	INS	-	-	T													0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	tagctcagtataatcccaaaINSttggatgtgaaattacttta							TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:67589269_67589270insT	ENST00000521381.1	+	10	1873_1874	c.1257_1258insT	c.(1258-1260)ttgfs	p.L420fs	PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.L420fs|PIK3R1_ENST00000523872.1_Frame_Shift_Ins_p.L57fs|PIK3R1_ENST00000336483.5_Frame_Shift_Ins_p.L150fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.L420fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.L420fs|PIK3R1_ENST00000320694.8_Frame_Shift_Ins_p.L120fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	420	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	ATAATCCCAAATTGGATGTGAA	0.347			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1255-1260)aatggafs		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001589	frameshift_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589269_67589270insT	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1259dupT	5.37:g.67589271_67589271dupT	ENSP00000428056:p.Leu420fs	TCGA GBM(4;<1E-08)	Somatic				PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.G420fs|PIK3R1_ENST00000523872.1_Frame_Shift_Ins_p.G57fs|PIK3R1_ENST00000336483.5_Frame_Shift_Ins_p.G150fs|PIK3R1_ENST00000320694.8_Frame_Shift_Ins_p.G120fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.G420fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.G420fs	p.G420fs	NM_181523.2	NP_852664.1	WXS	Illumina GAIIx	Phase_I	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1873_1874	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	420			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Ins	INS	ENST00000521381.1	37	c.1257_1258insT	CCDS3993.1																																																																																				0.347	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		12	14						12	14	---	---	---	---	T	67589270	-	T	67589269	7	5	25	1	0	1	1	0	0	0	0	0	11927	98	4	0	1421	0	PIK3R1	5	67589269	Frame_Shift_Ins	INS	-	TCGA-N8-A4PI-01A-21D-A28R-08	53723394	67589269	113325991	22	2541										
PIK3R1	5295	broad.mit.edu	37	chr5	67589588	67589620	+	In_Frame_Del	DEL	GAATATAACACTCAGTTTCAAGAAAAAAGTCGA	GAATATAACACTCAGTTTCAAGAAAAAAGTCGA	-													0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	ctgtagggaaaaaattacatGaatataacactcagtttcaa					rs17852841		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:67589588_67589620delGAATATAACACTCAGTTTCAAGAAAAAAGTCGA	ENST00000521381.1	+	11	1967_1999	c.1351_1383delGAATATAACACTCAGTTTCAAGAAAAAAGTCGA	c.(1351-1383)gaatataacactcagtttcaagaaaaaagtcgadel	p.EYNTQFQEKSR451del	PIK3R1_ENST00000274335.5_In_Frame_Del_p.EYNTQFQEKSR451del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EYNTQFQEKSR88del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EYNTQFQEKSR181del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.EYNTQFQEKSR451del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.EYNTQFQEKSR451del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.EYNTQFQEKSR151del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	451			E -> K (in dbSNP:rs17852841). {ECO:0000269|PubMed:15489334}.		B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.N453_T454insN(3)|p.H450_E451del(2)|p.Y452_Q455>SGGSRIK(1)|p.Y152N(1)|p.F456_R461>S(1)|p.E451_Y452delEY(1)|p.T454_Q455>Q(1)|p.T454I(1)|p.E462_R465delEYDR(1)|p.Y452N(1)|p.R461*(1)|p.Q187P(1)|p.Q157P(1)|p.453_454insN(1)|p.K459del(1)|p.K459_S460>N(1)|p.?(1)|p.Q457P(1)|p.Q457_R461del(1)|p.S460fs*5(1)|p.T454_D464del(1)|p.G446_Y452>VI(1)|p.E458*(1)|p.0?(1)|p.K459E(1)|p.Q455K(1)|p.F456_R461del(1)|p.Y182N(1)|p.E451_Y452del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AAAATTACATGAATATAACACTCAGTTTCAAGAAAAAAGTCGAGAATATGATA	0.27			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		32	Deletion - In frame(9)|Substitution - Missense(9)|Complex - deletion inframe(5)|Insertion - In frame(4)|Substitution - Nonsense(2)|Unknown(1)|Whole gene deletion(1)|Insertion - Frameshift(1)	p.N453_T454insN(3)|p.H450_E451del(2)|p.Y452_Q455>SGGSRIK(1)|p.Y152N(1)|p.F456_R461>S(1)|p.E451_Y452delEY(1)|p.T454_Q455>Q(1)|p.T454I(1)|p.E462_R465delEYDR(1)|p.Y452N(1)|p.R461*(1)|p.Q187P(1)|p.Q157P(1)|p.453_454insN(1)|p.K459del(1)|p.K459_S460>N(1)|p.?(1)|p.Q457P(1)|p.Q457_R461del(1)|p.S460fs*5(1)|p.T454_D464del(1)|p.G446_Y452>VI(1)|p.E458*(1)|p.0?(1)|p.K459E(1)|p.Q455K(1)|p.F456_R461del(1)|p.Y182N(1)|p.E451_Y452del(1)	endometrium(14)|central_nervous_system(5)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1351-1383)del		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589588_67589620delGAATATAACACTCAGTTTCAAGAAAAAAGTCGA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1351_1383delGAATATAACACTCAGTTTCAAGAAAAAAGTCGA	5.37:g.67589588_67589620delGAATATAACACTCAGTTTCAAGAAAAAAGTCGA	ENSP00000428056:p.Glu451_Arg461del	TCGA GBM(4;<1E-08)	Somatic				PIK3R1_ENST00000274335.5_In_Frame_Del_p.EYNTQFQEKSR451del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EYNTQFQEKSR88del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EYNTQFQEKSR181del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.EYNTQFQEKSR151del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.EYNTQFQEKSR451del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.EYNTQFQEKSR451del	p.EYNTQFQEKSR451del	NM_181523.2	NP_852664.1	WXS	Illumina GAIIx	Phase_I	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	1967_1999	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	451		E -> K (in dbSNP:rs17852841).			B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1351_1383delGAATATAACACTCAGTTTCAAGAAAAAAGTCGA	CCDS3993.1																																																																																				0.27	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		7	32						7	32	---	---	---	---	-	67589620	GAATATAACACTCAGTTTCAAGAAAAAAGTCGA	-	67589588	7	5	25	1	0	1	0	1	0	0	0	0	11927	1291	45	0	1519	0	PIK3R1	5	67589588	In_Frame_Del	DEL	GAATATAACACTCAGTTTCAAGAAAAAAGTCGA	TCGA-N8-A4PI-01A-21D-A28R-08	319	67589588	113325672	23	2542										
F12	2161	broad.mit.edu	37	chr5	176832137	176832137	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	gcttgctcagttctataccaTatctcattcttgtggaaaaa	6	9	4	0			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:176832137T>C	ENST00000253496.3	-	6	495	c.447A>G	c.(445-447)atA>atG	p.I149M	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	149	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	TTCTATACCATATCTCATTCT	0.552									Hereditary Angioedema																													ENST00000253496.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12						c.(445-447)atA>atG		coagulation factor XII (Hageman factor)							64	66	66					5																	176832137		2203	4300	6503	SO:0001583	missense	2161	Hereditary Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176832137T>C	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.447A>G	5.37:g.176832137T>C	ENSP00000253496:p.Ile149Met		Somatic					p.I149M	NM_000505.3	NP_000496.2	WXS	Illumina GAIIx	Phase_I	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	495	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	149			Fibronectin type-I.		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.447A>G	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	T	5.414	0.261503	0.10239	.	.	ENSG00000131187	ENST00000253496	T	0.43688	0.94	5.86	-8.32	0.00996	Fibronectin, type I (4);	1.030140	0.07709	N	0.941689	T	0.23054	0.0557	L	0.40543	1.245	0.09310	N	0.999998	B	0.26002	0.139	B	0.21917	0.037	T	0.29305	-1.0016	10	0.45353	T	0.12	.	1.2123	0.01907	0.3255:0.3302:0.1455:0.1988	.	149	P00748	FA12_HUMAN	M	149	ENSP00000253496:I149M	ENSP00000253496:I149M	I	-	3	3	F12	176764743	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.164000	0.03135	-0.926000	0.03770	-0.290000	0.09829	ATA		0.552	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			18	35	0	0	0	1	0	18	35					C	176832137	T	C	176832137	3	2	25	1	0	0	0	0	1	0	0	0	5341	1396	49	4	1436	4	F12	5	176832137	Missense_Mutation	SNP	T	TCGA-N8-A4PI-01A-21D-A28R-08	109242549	176832137	4083123	24	2543										
FAM153A	285596	broad.mit.edu	37	chr5	177156485	177156485	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	gaggaaagaagacgactttaCcatgtgaacccctgtggctt	11	9	0	3			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:177156485C>G	ENST00000440605.3	-	16	986		c.e16+1		FAM153A_ENST00000510276.1_Splice_Site|FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Intron	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A											kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACGACTTTACCATGTGAACC	0.443																																						ENST00000440605.3																			0				kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11						c.e16+1		family with sequence similarity 153, member A							43	48	47					5																	177156485		2176	4276	6452	SO:0001630	splice_region_variant	285596							g.chr5:177156485C>G	AB018295	CCDS34305.1	5q35.3	2010-05-12			ENSG00000170074	ENSG00000170074			29940	protein-coding gene	gene with protein product	"NY REN 7 antigen"					10508479, 9872452	Standard	NM_173663		Approved	NY-REN-7	uc003mic.3	Q9UHL3	OTTHUMG00000163394	ENST00000440605.3:c.702+1G>C	5.37:g.177156485C>G			Somatic				FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000510276.1_Splice_Site|FAM153A_ENST00000513554.1_Intron		NM_173663.3	NP_775934.3	WXS	Illumina GAIIx	Phase_I	Q9UHL3	F153A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	986	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)						A8K0F3|O94852	Splice_Site	SNP	ENST00000440605.3	37		CCDS34305.1	.	.	.	.	.	.	.	.	.	.	N	3.747	-0.052459	0.07362	.	.	ENSG00000170074	ENST00000440977;ENST00000510276;ENST00000440605	.	.	.	1.04	1.04	0.20106	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5733	0.17208	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM153A	177089091	0.135000	0.22499	0.002000	0.10522	0.005000	0.04900	0.771000	0.26633	0.911000	0.36747	0.372000	0.22366	.		0.443	FAM153A-022	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417242.1	NM_173663	Intron	28	124	0	0	0	1	0	28	124					G	177156485	C	G	177156485	5	3	25	1	0	0	0	0	0	0	1	0	5465	521	18	5	249	5	FAM153A	5	177156485	Splice_Site	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08	324348	177156485	3758775	25	2544										
HIST1H2AB	8335	broad.mit.edu	37	chr6	26033580	26033580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	gatgcgggtcttcttgttgtCgcgggccgcattgcccgcca	14	13	2	0			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr6:26033580C>T	ENST00000259791.2	-	1	216	c.217G>A	c.(217-219)Gac>Aac	p.D73N	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	73						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TTCTTGTTGTCGCGGGCCGCA	0.647																																						ENST00000259791.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(217-219)Gac>Aac		histone cluster 1, H2ab							59	62	61					6																	26033580		2203	4300	6503	SO:0001583	missense	8335				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26033580C>T	X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"Histones / Replication-dependent"	4734	protein-coding gene	gene with protein product		602795	"H2A histone family, member M", "histone 1, H2ab"	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.217G>A	6.37:g.26033580C>T	ENSP00000259791:p.Asp73Asn		Somatic					p.D73N	NM_003513.2	NP_003504.2	WXS	Illumina GAIIx	Phase_I	P04908	H2A1B_HUMAN			1	216	-			73					P28001|Q76P63	Missense_Mutation	SNP	ENST00000259791.2	37	c.217G>A	CCDS4574.1	.	.	.	.	.	.	.	.	.	.	c	28.5	4.922564	0.92319	.	.	ENSG00000137259	ENST00000259791	T	0.67345	-0.26	5.35	5.35	0.76521	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.37136	U	0.002231	T	0.80884	0.4709	.	.	.	0.45227	D	0.998232	D	0.89917	1.0	D	0.91635	0.999	T	0.82754	-0.0301	9	0.72032	D	0.01	.	18.4224	0.90595	0.0:1.0:0.0:0.0	.	73	P04908	H2A1B_HUMAN	N	73	ENSP00000259791:D73N	ENSP00000259791:D73N	D	-	1	0	HIST1H2AB	26141559	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.701000	0.84566	2.648000	0.89879	0.561000	0.74099	GAC		0.647	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040082.1	NM_003513		54	54	0	0	0	1	0	54	54					T	26033580	C	T	26033580	3	4	25	1	0	0	0	0	1	0	0	0	7138	884	31	1	179	1	HIST1H2AB	6	26033580	Missense_Mutation	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08		26033580	145081487	26	2545										
CNOT4	4850	broad.mit.edu	37	chr7	135080618	135080618	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	aaaccaggtggtggtgaaggCgtatcactgttagatatctg	13	6	2	2			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr7:135080618C>T	ENST00000315544.5	-	9	1176	c.897G>A	c.(895-897)acG>acA	p.T299T	CNOT4_ENST00000423368.2_Silent_p.T299T|CNOT4_ENST00000414802.1_Silent_p.T299T|CNOT4_ENST00000428680.2_Silent_p.T296T|CNOT4_ENST00000541284.1_Silent_p.T299T|CNOT4_ENST00000356162.4_Silent_p.T299T|CNOT4_ENST00000451834.1_Silent_p.T296T|CNOT4_ENST00000361528.4_Silent_p.T296T	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	299					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						GTGGTGAAGGCGTATCACTGT	0.368																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(886-888)acG>acA		CCR4-NOT transcription complex, subunit 4							174	158	163					7																	135080618		1896	4114	6010	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.chr7:135080618C>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	ENST00000315544.5:c.897G>A	7.37:g.135080618C>T			Somatic				CNOT4_ENST00000361528.4_Silent_p.T296T|CNOT4_ENST00000414802.1_Silent_p.T299T|CNOT4_ENST00000423368.2_Silent_p.T299T|CNOT4_ENST00000451834.1_Silent_p.T296T|CNOT4_ENST00000541284.1_Silent_p.T299T|CNOT4_ENST00000315544.5_Silent_p.T299T|CNOT4_ENST00000356162.4_Silent_p.T299T	p.T296T	NM_001008225.2	NP_001008226.1	WXS	Illumina GAIIx	Phase_I	O95628	CNOT4_HUMAN			9	1167	-			299					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000315544.5	37	c.888G>A	CCDS55166.1																																																																																				0.368	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		12	33	0	0	0	1	0	12	33					T	135080618	C	T	135080618	2	4	25	1	0	0	0	0	0	0	0	1	3623	755	27	1		1	CNOT4	7	135080618	Silent	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08		135080618	24058045	27	2546										
GIMAP4	55303	broad.mit.edu	37	chr7	150269308	150269308	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	agtgcaacaggaaacagcatCcttggccggaaagtgtttca	11	9	1	0			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr7:150269308C>T	ENST00000255945.2	+	3	325	c.150C>T	c.(148-150)atC>atT	p.I50I	GIMAP4_ENST00000461940.1_Silent_p.I64I|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	50	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.I50>?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAACAGCATCCTTGGCCGGA	0.478																																						ENST00000255945.2																			1	Complex(1)	p.I50>?(1)	skin(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(148-150)atC>atT		GTPase, IMAP family member 4							90	88	89					7																	150269308		2203	4300	6503	SO:0001819	synonymous_variant	55303						GTP binding	g.chr7:150269308C>T	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"GTPases, IMAP"	21872	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 1"	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.150C>T	7.37:g.150269308C>T			Somatic				GIMAP4_ENST00000461940.1_Silent_p.I64I|GIMAP4_ENST00000494750.1_3'UTR	p.I50I	NM_018326.2	NP_060796.1	WXS	Illumina GAIIx	Phase_I	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	325	+			50						Silent	SNP	ENST00000255945.2	37	c.150C>T	CCDS5904.1																																																																																				0.478	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		19	29	0	0	0	1	0	19	29					T	150269308	C	T	150269308	2	4	25	1	0	0	0	0	0	0	0	1	6389	845	30	3		3	GIMAP4	7	150269308	Silent	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08	15188690	150269308	8869355	28	2547										
ARHGEF10	9639	broad.mit.edu	37	chr8	1871979	1871979	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	tttacagctgtgttcaatacGttcacccctgccatcaagga	7	12	3	0	rs533238205		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr8:1871979G>A	ENST00000398564.1	+	21	2502	c.2502G>A	c.(2500-2502)acG>acA	p.T834T	ARHGEF10_ENST00000518288.1_Silent_p.T833T|ARHGEF10_ENST00000349830.3_Silent_p.T809T|ARHGEF10_ENST00000520359.1_Silent_p.T771T|ARHGEF10_ENST00000262112.6_Silent_p.T834T			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	834					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGTTCAATACGTTCACCCCTG	0.517																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(2497-2499)acG>acA		Rho guanine nucleotide exchange factor (GEF) 10							141	109	120					8																	1871979		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1871979G>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.2502G>A	8.37:g.1871979G>A			Somatic				ARHGEF10_ENST00000349830.3_Silent_p.T809T|ARHGEF10_ENST00000520359.1_Silent_p.T771T|ARHGEF10_ENST00000262112.6_Silent_p.T834T|ARHGEF10_ENST00000398564.1_Silent_p.T834T	p.T833T			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)	22	2662	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	834					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.2499G>A																																																																																					0.517	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				15	62	0	0	0	1	0	15	62					A	1871979	G	A	1871979	2	1	25	1	0	0	0	0	0	0	0	1	894	1132	40	1		1	ARHGEF10	8	1871979	Silent	SNP	G	TCGA-N8-A4PI-01A-21D-A28R-08		1871979	144492043	29	2548										
CYP7B1	9420	broad.mit.edu	37	chr8	65527731	65527731	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	cgcagaagataatacattgcCcagaacatagttggaatagt	9	7	0	3			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr8:65527731C>T	ENST00000310193.3	-	4	1082	c.909G>A	c.(907-909)tgG>tgA	p.W303*	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	303					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)			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)				AATACATTGCCCAGAACATAG	0.443																																						ENST00000310193.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(907-909)tgG>tgA		cytochrome P450, family 7, subfamily B, polypeptide 1							91	83	86					8																	65527731		2203	4300	6503	SO:0001587	stop_gained	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.chr8:65527731C>T	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.909G>A	8.37:g.65527731C>T	ENSP00000310721:p.Trp303*		Somatic				CYP7B1_ENST00000523954.1_5'UTR	p.W303*	NM_004820.3	NP_004811.1	WXS	Illumina GAIIx	Phase_I	O75881	CP7B1_HUMAN			4	1082	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	303					B2RN07|Q9UNF5	Nonsense_Mutation	SNP	ENST00000310193.3	37	c.909G>A	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	38	7.169508	0.98111	.	.	ENSG00000172817	ENST00000310193	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7769	20.3539	0.98825	0.0:1.0:0.0:0.0	.	.	.	.	X	303	.	ENSP00000310721:W303X	W	-	3	0	CYP7B1	65690285	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	4.938000	0.63519	2.826000	0.97356	0.655000	0.94253	TGG		0.443	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			4	41	0	0	0	1	0	4	41					T	65527731	C	T	65527731	4	4	25	1	0	0	0	0	0	1	0	0	4199	624	22	3	623	3	CYP7B1	8	65527731	Nonsense_Mutation	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08	63655752	65527731	80836291	30	2549										
SMARCA2	6595	broad.mit.edu	37	chr9	2039779	2039779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	caacaacagcagcagcaacaGcagcagcagcagcagcagca	10	14	0	0	rs376509101|rs62639301	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:2039779G>A	ENST00000382203.1	+	4	878	c.669G>A	c.(667-669)caG>caA	p.Q223Q	SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000382194.1_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|RP11-264I13.2_ENST00000426860.1_RNA			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	223	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.642																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)caG>caA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							10	13	12					9																	2039779		2187	4260	6447	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039779G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.669G>A	9.37:g.2039779G>A			Somatic				SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000382194.1_Silent_p.Q223Q	p.Q223Q			WXS	Illumina GAIIx	Phase_I	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	223			Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.669G>A	CCDS34977.1																																																																																				0.642	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		4	29	0	0	0	1	0	4	29					A	2039779	G	A	2039779	2	1	25	1	0	0	0	0	0	0	0	1	14784	962	34	3		3	SMARCA2	9	2039779	Silent	SNP	G	TCGA-N8-A4PI-01A-21D-A28R-08		2039779	139173652	31	2550										
CDK20	23552	broad.mit.edu	37	chr9	90584735	90584735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	cagacttgagggtttggggtGcccaagatgcgaagcacata	14	8	0	3	rs113461285		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:90584735G>A	ENST00000325303.8	-	6	968	c.663C>T	c.(661-663)ggC>ggT	p.G221G	CDK20_ENST00000605159.1_Silent_p.G200G|CDK20_ENST00000375871.4_Intron|CDK20_ENST00000336654.5_Silent_p.G213G|CDK20_ENST00000375883.3_Silent_p.G200G	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						GGTTTGGGGTGCCCAAGATGC	0.577																																						ENST00000375883.3																			0				skin(1)	1						c.(598-600)ggC>ggT		cyclin-dependent kinase 20							99	96	97					9																	90584735		2203	4300	6503	SO:0001819	synonymous_variant	23552				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr9:90584735G>A	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.663C>T	9.37:g.90584735G>A			Somatic				CDK20_ENST00000325303.8_Silent_p.G221G|CDK20_ENST00000605159.1_Silent_p.G200G|CDK20_ENST00000375871.4_Intron|CDK20_ENST00000336654.5_Silent_p.G213G	p.G200G	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	WXS	Illumina GAIIx	Phase_I	Q8IZL9	CDK20_HUMAN			5	906	-			221			Protein kinase.		A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Silent	SNP	ENST00000325303.8	37	c.600C>T	CCDS35060.1																																																																																				0.577	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214996.1	NM_012119		43	50	0	0	0	1	0	43	50					A	90584735	G	A	90584735	2	1	25	1	0	0	0	0	0	0	0	1	3139	1306	46	3		3	CDK20	9	90584735	Silent	SNP	G	TCGA-N8-A4PI-01A-21D-A28R-08	88544956	90584735	50628696	32	2551										
C9orf86	55684	broad.mit.edu	37	chr9	139726296	139726296	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	ccggacgacgtgcgtgacttCatcgacaacctggacaggtg	13	12	1	1			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:139726296C>A	ENST00000311502.7	+	6	818	c.582C>A	c.(580-582)ttC>ttA	p.F194L	RABL6_ENST00000371671.4_Missense_Mutation_p.F194L|RABL6_ENST00000371663.4_Missense_Mutation_p.F194L|RABL6_ENST00000432842.2_Missense_Mutation_p.F156L|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000357466.2_Missense_Mutation_p.F194L|MIR4292_ENST00000585012.1_RNA|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000371675.3_Missense_Mutation_p.F79L			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	194	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										TGCGTGACTTCATCGACAACC	0.672																																						ENST00000371675.3																			0											c.(235-237)ttC>ttA		RAB, member RAS oncogene family-like 6							46	50	49					9																	139726296		2117	4221	6338	SO:0001583	missense	55684							g.chr9:139726296C>A	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"Rab-like protein 1", "partner of ARF"	610615	"chromosome 9 open reading frame 86"	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.582C>A	9.37:g.139726296C>A	ENSP00000311134:p.Phe194Leu		Somatic				RABL6_ENST00000357466.2_Missense_Mutation_p.F194L|RABL6_ENST00000311502.7_Missense_Mutation_p.F194L|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000432842.2_Missense_Mutation_p.F156L|RABL6_ENST00000371663.4_Missense_Mutation_p.F194L|RABL6_ENST00000371671.4_Missense_Mutation_p.F194L	p.F79L			WXS	Illumina GAIIx	Phase_I					6	1122	+								A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	37	c.237C>A	CCDS48058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.76|12.76	2.033720|2.033720	0.35893|0.35893	.|.	.|.	ENSG00000196642|ENSG00000196642	ENST00000371673;ENST00000371663;ENST00000371671;ENST00000311502;ENST00000357466;ENST00000432842;ENST00000371675|ENST00000436380;ENST00000425121	T;T;T;T;T|.	0.64803|.	-0.12;-0.1;0.82;0.93;-0.07|.	4.33|4.33	2.41|2.41	0.29592|0.29592	.|.	0.237683|.	0.35615|.	N|.	0.003090|.	T|T	0.41766|0.41766	0.1173|0.1173	N|N	0.21240|0.21240	0.645|0.645	0.43462|0.43462	D|D	0.995666|0.995666	B;B;B;B;B|.	0.17667|.	0.023;0.0;0.0;0.0;0.001|.	B;B;B;B;B|.	0.20955|.	0.032;0.002;0.002;0.001;0.002|.	T|T	0.14587|0.14587	-1.0467|-1.0467	10|5	0.44086|.	T|.	0.13|.	-5.9988|-5.9988	10.4059|10.4059	0.44256|0.44256	0.0:0.8254:0.0:0.1746|0.0:0.8254:0.0:0.1746	.|.	194;194;194;194;194|.	A8QVZ8;C6K8I5;Q3YEC7-2;Q3YEC7;C6K8I4|.	.;.;.;PARF_HUMAN;.|.	L|N	194;194;194;194;194;156;79|151;105	ENSP00000360727:F194L;ENSP00000311134:F194L;ENSP00000350056:F194L;ENSP00000414081:F156L;ENSP00000360740:F79L|.	ENSP00000311134:F194L|.	F|H	+|+	3|1	2|0	C9orf86|C9orf86	138846117|138846117	1.000000|1.000000	0.71417|0.71417	0.836000|0.836000	0.33094|0.33094	0.802000|0.802000	0.45316|0.45316	0.731000|0.731000	0.26058|0.26058	0.935000|0.935000	0.37341|0.37341	0.313000|0.313000	0.20887|0.20887	TTC|CAT		0.672	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		12	16	1	0	4.3838e-07	1	4.60577e-07	12	16					A	139726296	C	A	139726296	3	1	25	1	0	0	0	0	1	0	0	0	2504	825	29	2	604	2	C9orf86	9	139726296	Missense_Mutation	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08	49141561	139726296	1487135	33	2552										
PTEN	5728	broad.mit.edu	37	chr10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	actgtaaagctggaaagggaCgaactggtgtaatgatatgt	13	4	0	1	rs121913292|rs121909224		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr10:89692904C>T	ENST00000371953.3	+	5	1745	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		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.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(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)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	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	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	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"		224	Substitution - Missense(102)|Substitution - Nonsense(63)|Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(2)|Substitution - coding silent(1)	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)	endometrium(125)|central_nervous_system(37)|prostate(21)|ovary(10)|lung(9)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|breast(3)|cervix(2)|large_intestine(2)|soft_tissue(2)|thyroid(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	CM971273	PTEN	M	rs121909224	c.(388-390)Cga>Tga		phosphatase and tensin homolog							141	131	134					10																	89692904		2203	4300	6503	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.chr10:89692904C>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.388C>T	10.37:g.89692904C>T	ENSP00000361021:p.Arg130*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic					p.R130*	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	1745	+		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)	130		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.388C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.299622	0.99789	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.7685	18.7776	0.91918	0.0:1.0:0.0:0.0	.	.	.	.	X	130	.	.	R	+	1	2	PTEN	89682884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.527000	0.67123	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		39	10	0	0	0	1	0	39	10					T	89692904	C	T	89692904	4	4	25	1	0	0	0	0	0	1	0	0	12750	528	19	1	406	1	PTEN	10	89692904	Nonsense_Mutation	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08		89692904	45841843	34	2553										
DMBT1	1755	broad.mit.edu	37	chr10	124339330	124339330	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	atgatgtgcgctgctcaggaCatgagtcctacctgtggagc	13	10	1	2	rs568492430	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr10:124339330C>A	ENST00000338354.3	+	10	1022	c.916C>A	c.(916-918)Cat>Aat	p.H306N	DMBT1_ENST00000344338.3_Missense_Mutation_p.H306N|DMBT1_ENST00000368955.3_Missense_Mutation_p.H306N|DMBT1_ENST00000368956.2_Missense_Mutation_p.H306N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.H306N|DMBT1_ENST00000368909.3_Missense_Mutation_p.H306N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	306	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGCTCAGGACATGAGTCCTA	0.607													C|||	10	0.00199681	8e-04	0	5008	,	,		18345	0		0.005	False		,,,				2504	0.0041				Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(916-918)Cat>Aat		deleted in malignant brain tumors 1							63	64	64					10																	124339330		1890	4107	5997	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.chr10:124339330C>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.916C>A	10.37:g.124339330C>A	ENSP00000342210:p.His306Asn		Somatic				DMBT1_ENST00000368955.3_Missense_Mutation_p.H306N|DMBT1_ENST00000344338.3_Missense_Mutation_p.H306N|DMBT1_ENST00000368956.2_Missense_Mutation_p.H306N|DMBT1_ENST00000330163.4_Missense_Mutation_p.H306N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.H306N	p.H306N	NM_007329.2	NP_015568.2	WXS	Illumina GAIIx	Phase_I	Q9UGM3	DMBT1_HUMAN			10	1022	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	306			SRCR 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.916C>A		.	.	.	.	.	.	.	.	.	.	C	0.004	-2.271520	0.00257	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	3.94	-0.991	0.10235	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.17238	0.0414	N	0.00493	-1.44	0.09310	N	0.999999	B;B;B;D;B	0.55385	0.002;0.001;0.0;0.971;0.132	B;B;B;P;B	0.58077	0.004;0.003;0.001;0.832;0.18	T	0.06023	-1.0850	9	0.18710	T	0.47	.	0.6102	0.00760	0.366:0.1629:0.122:0.3491	.	306;306;306;306;306	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	N	306	ENSP00000342210:H306N;ENSP00000343175:H306N;ENSP00000327747:H306N;ENSP00000357905:H306N;ENSP00000357951:H306N;ENSP00000357952:H306N	ENSP00000331522:H306N	H	+	1	0	DMBT1	124329320	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.900000	0.01599	-0.010000	0.14271	0.430000	0.28490	CAT		0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		6	127	1	0	0.00307968	1	0.00307968	6	127					A	124339330	C	A	124339330	3	1	25	1	0	0	0	0	1	0	0	0	4579	478	17	5	954	5	DMBT1	10	124339330	Missense_Mutation	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08	34646426	124339330	11195417	35	2554										
DGKZ	8525	broad.mit.edu	37	chr11	46397946	46397946	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	cccaagtggtgcttcctggaCggtgagtctactcccagggt	13	12	1	1	rs146211585	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:46397946C>T	ENST00000454345.1	+	24	2849	c.2724C>T	c.(2722-2724)gaC>gaT	p.D908D	DGKZ_ENST00000528615.1_Splice_Site_p.D498D|DGKZ_ENST00000527911.1_Splice_Site_p.D720D|DGKZ_ENST00000318201.8_Splice_Site_p.D697D|DGKZ_ENST00000456247.2_Splice_Site_p.D719D|DGKZ_ENST00000421244.2_Splice_Site_p.D720D|DGKZ_ENST00000543978.1_Splice_Site_p.D72D|DGKZ_ENST00000343674.6_Splice_Site_p.D736D|DGKZ_ENST00000395574.3_Splice_Site_p.D686D|DGKZ_ENST00000532868.2_Splice_Site_p.D724D|MIR4688_ENST00000577966.1_RNA	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	908					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)		GCTTCCTGGACGGTGAGTCTA	0.612																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.e24+1		diacylglycerol kinase, zeta		C	,,,,,,	2,4402	4.2+/-10.8	0,2,2200	134	143	139		2724,2160,2157,2091,2160,2208,2172	-5.6	0.9	11	dbSNP_134	139	1,8597	1.2+/-3.3	0,1,4298	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	DGKZ	NM_001105540.1,NM_001199266.1,NM_001199267.1,NM_001199268.1,NM_003646.3,NM_201532.2,NM_201533.3	,,,,,,	0,3,6498	TT,TC,CC		0.0116,0.0454,0.0231	,,,,,,	908/1118,720/935,719/929,697/907,720/930,736/946,724/934	46397946	3,12999	2202	4299	6501	SO:0001630	splice_region_variant	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46397946C>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"diacylglycerol kinase, zeta 104kDa"			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2725+1C>T	11.37:g.46397946C>T			Somatic				DGKZ_ENST00000318201.8_Splice_Site_p.D697_splice|DGKZ_ENST00000343674.6_Splice_Site_p.D736_splice|DGKZ_ENST00000532868.2_Splice_Site_p.D724_splice|DGKZ_ENST00000395574.3_Splice_Site_p.D686_splice|DGKZ_ENST00000456247.2_Splice_Site_p.D719_splice|DGKZ_ENST00000528615.1_Splice_Site_p.D498_splice|DGKZ_ENST00000543978.1_Splice_Site_p.D72_splice|DGKZ_ENST00000421244.2_Splice_Site_p.D720_splice|DGKZ_ENST00000527911.1_Splice_Site_p.D720_splice	p.D908_splice	NM_001105540.1	NP_001099010.1	WXS	Illumina GAIIx	Phase_I	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	24	2849	+			908					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Splice_Site	SNP	ENST00000454345.1	37	c.2725_splice	CCDS41640.1																																																																																				0.612	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540	Silent	38	103	0	0	0	1	0	38	103					T	46397946	C	T	46397946	5	4	25	1	0	0	0	0	0	0	1	0	4476	550	19	1	3261	1	DGKZ	11	46397946	Splice_Site	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08		46397946	88608570	36	2555										
OR4C3	256144	broad.mit.edu	37	chr11	48347283	48347283	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	gagatgcaaagccctctccaCctgtggagcccacttcattg	9	14	2	1	rs201864172	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:48347283C>G	ENST00000319856.4	+	1	812	c.791C>G	c.(790-792)aCc>aGc	p.T264S		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	237						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						GCCCTCTCCACCTGTGGAGCC	0.458																																						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.(790-792)aCc>aGc		olfactory receptor, family 4, subfamily C, member 3							279	238	252					11																	48347283		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347283C>G	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.791C>G	11.37:g.48347283C>G	ENSP00000321419:p.Thr264Ser		Somatic					p.T264S	NM_001004702.1	NP_001004702.1	WXS	Illumina GAIIx	Phase_I	Q8NH37	OR4C3_HUMAN			1	812	+			237					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.791C>G	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261816	0.80358	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.40476	1.03	5.88	5.88	0.94601	GPCR, rhodopsin-like superfamily (1);	0.118204	0.38492	N	0.001669	T	0.72293	0.3442	H	0.96805	3.885	0.46609	D	0.999121	P	0.42296	0.775	P	0.51999	0.687	T	0.80099	-0.1524	10	0.66056	D	0.02	.	17.8871	0.88858	0.0:1.0:0.0:0.0	.	237	Q8NH37	OR4C3_HUMAN	S	264;127	ENSP00000321419:T264S	ENSP00000321419:T264S	T	+	2	0	OR4C3	48303859	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	5.800000	0.69108	2.829000	0.97493	0.549000	0.68633	ACC		0.458	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		46	39	0	0	0	1	0	46	39					G	48347283	C	G	48347283	3	3	25	1	0	0	0	0	1	0	0	0	11059	507	18	5	793	5	OR4C3	11	48347283	Missense_Mutation	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08	1949337	48347283	86659233	37	2556										
FAM111A	63901	broad.mit.edu	37	chr11	58920290	58920290	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	ggattgttcattttaacttgTcggcatgtaatagatagcat	9	5	1	1			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:58920290T>G	ENST00000528737.1	+	5	3967	c.1149T>G	c.(1147-1149)tgT>tgG	p.C383W	FAM111A_ENST00000533703.1_Missense_Mutation_p.C383W|FAM111A_ENST00000361723.3_Missense_Mutation_p.C383W|FAM111A_ENST00000531147.1_Missense_Mutation_p.C383W|FAM111A_ENST00000420244.1_Missense_Mutation_p.C383W			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	383	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TTTTAACTTGTCGGCATGTAA	0.428																																						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.(1147-1149)tgT>tgG		family with sequence similarity 111, member A							141	139	140					11																	58920290		2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920290T>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.1149T>G	11.37:g.58920290T>G	ENSP00000434435:p.Cys383Trp		Somatic				FAM111A_ENST00000361723.3_Missense_Mutation_p.C383W|FAM111A_ENST00000420244.1_Missense_Mutation_p.C383W|FAM111A_ENST00000531147.1_Missense_Mutation_p.C383W|FAM111A_ENST00000533703.1_Missense_Mutation_p.C383W	p.C383W			WXS	Illumina GAIIx	Phase_I	Q96PZ2	F111A_HUMAN			5	3967	+		all_epithelial(135;0.139)	383					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.1149T>G	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.137283	0.56936	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45	5.73	2.09	0.27110	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.183305	0.48286	D	0.000188	D	0.92087	0.7492	M	0.78049	2.395	0.41594	D	0.98881	D	0.89917	1.0	D	0.91635	0.999	D	0.88894	0.3348	10	0.87932	D	0	-20.7052	3.6444	0.08178	0.1549:0.2552:0.0:0.5899	.	383	Q96PZ2	F111A_HUMAN	W	383	ENSP00000434435:C383W;ENSP00000406683:C383W;ENSP00000355264:C383W;ENSP00000433154:C383W;ENSP00000431631:C383W	ENSP00000355264:C383W	C	+	3	2	FAM111A	58676866	0.051000	0.20477	0.052000	0.19188	0.895000	0.52256	0.057000	0.14279	0.161000	0.19458	0.533000	0.62120	TGT		0.428	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		14	86	0	0	0	1	0	14	86					G	58920290	T	G	58920290	3	3	25	1	0	0	0	0	1	0	0	0	5404	1673	58	4	1155	4	FAM111A	11	58920290	Missense_Mutation	SNP	T	TCGA-N8-A4PI-01A-21D-A28R-08	10573007	58920290	76086226	38	2557										
AHNAK	79026	broad.mit.edu	37	chr11	62292206	62292206	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	ctttcattttagggcctttaAgattgaggtccaaatcaggc	9	8	2	2			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:62292206A>G	ENST00000378024.4	-	5	9957	c.9683T>C	c.(9682-9684)cTt>cCt	p.L3228P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3228					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)				AGGGCCTTTAAGATTGAGGTC	0.408																																						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.(9682-9684)cTt>cCt		AHNAK nucleoprotein							138	136	137					11																	62292206		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62292206A>G	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.9683T>C	11.37:g.62292206A>G	ENSP00000367263:p.Leu3228Pro		Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.L3228P	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	9957	-		Melanoma(852;0.155)	3228					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.9683T>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	14.83	2.651388	0.47362	.	.	ENSG00000124942	ENST00000378024	T	0.02085	4.46	4.32	4.32	0.51571	.	0.000000	0.24686	U	0.036428	T	0.17066	0.0410	H	0.94620	3.56	0.58432	D	0.999999	D	0.76494	0.999	D	0.68192	0.956	T	0.04664	-1.0935	10	0.45353	T	0.12	-23.0631	13.1503	0.59486	1.0:0.0:0.0:0.0	.	3228	Q09666	AHNK_HUMAN	P	3228	ENSP00000367263:L3228P	ENSP00000367263:L3228P	L	-	2	0	AHNAK	62048782	0.951000	0.32395	0.450000	0.26969	0.590000	0.36582	8.734000	0.91543	1.587000	0.49959	0.254000	0.18369	CTT		0.408	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		99	68	0	0	0	1	0	99	68					G	62292206	A	G	62292206	3	3	25	1	0	0	0	0	1	0	0	0	414	72	3	4	8109	4	AHNAK	11	62292206	Missense_Mutation	SNP	A	TCGA-N8-A4PI-01A-21D-A28R-08	3371916	62292206	72714310	39	2558										
NTM	50863	broad.mit.edu	37	chr11	132180094	132180094	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	gaagcctcagcagtcccctcAgcagaattccagtggtacaa	9	13	2	1			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:132180094A>C	ENST00000374786.1	+	5	1229	c.750A>C	c.(748-750)tcA>tcC	p.S250S	NTM_ENST00000374791.3_Silent_p.S250S|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000427481.2_Silent_p.S241S|NTM_ENST00000539799.1_Silent_p.S250S|NTM_ENST00000374784.1_Silent_p.S250S|NTM_ENST00000425719.2_Silent_p.S250S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	250	Ig-like C2-type 3.				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						CAGTCCCCTCAGCAGAATTCC	0.507																																						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.(748-750)tcA>tcC		neurotrimin							164	162	163					11																	132180094		2201	4297	6498	SO:0001819	synonymous_variant	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132180094A>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.750A>C	11.37:g.132180094A>C			Somatic				NTM_ENST00000374791.3_Silent_p.S250S|NTM_ENST00000374784.1_Silent_p.S250S|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Silent_p.S250S|NTM_ENST00000427481.2_Silent_p.S241S|NTM_ENST00000539799.1_Silent_p.S250S	p.S250S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	WXS	Illumina GAIIx	Phase_I	Q9P121	NTRI_HUMAN			5	1229	+			250			Ig-like C2-type 3.		A0MTT2|Q6UXJ3|Q86VJ9	Silent	SNP	ENST00000374786.1	37	c.750A>C	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.426470	0.25726	.	.	ENSG00000182667	ENST00000457381	.	.	.	6.07	-12.1	0.00011	.	.	.	.	.	T	0.30572	0.0769	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39354	-0.9618	4	.	.	.	-6.1816	1.6251	0.02721	0.1934:0.3485:0.1776:0.2805	.	.	.	.	P	2	.	.	Q	+	2	0	NTM	131685304	0.000000	0.05858	0.498000	0.27564	0.995000	0.86356	-4.949000	0.00167	-2.158000	0.00788	0.533000	0.62120	CAG		0.507	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		76	78	0	0	0	1	0	76	78					C	132180094	A	C	132180094	2	2	25	1	0	0	0	0	0	0	0	1	10708	175	7	4		4	NTM	11	132180094	Silent	SNP	A	TCGA-N8-A4PI-01A-21D-A28R-08	69887888	132180094	2826422	40	2559										
CHD4	1108	broad.mit.edu	37	chr12	6697558	6697558	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	ggcccccagctcgagtggaaAgcaagaagcagaactgctga	13	11	0	3			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:6697558A>G	ENST00000357008.2	-	23	3534	c.3371T>C	c.(3370-3372)cTt>cCt	p.L1124P	CHD4_ENST00000540960.1_5'Flank|CHD4_ENST00000544040.1_Missense_Mutation_p.L1117P|CHD4_ENST00000309577.6_Missense_Mutation_p.L1124P|CHD4_ENST00000544484.1_Missense_Mutation_p.L1121P	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1124	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						TCGAGTGGAAAGCAAGAAGCA	0.428																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(3370-3372)cTt>cCt		chromodomain helicase DNA binding protein 4							70	69	69					12																	6697558		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.chr12:6697558A>G	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.3371T>C	12.37:g.6697558A>G	ENSP00000349508:p.Leu1124Pro		Somatic				CHD4_ENST00000544040.1_Missense_Mutation_p.L1117P|CHD4_ENST00000544484.1_Missense_Mutation_p.L1121P|CHD4_ENST00000357008.2_Missense_Mutation_p.L1124P	p.L1124P			WXS	Illumina GAIIx	Phase_I	Q14839	CHD4_HUMAN			23	3534	-			1124			Helicase C-terminal.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3371T>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735287	0.69189	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.77	5.77	0.91146	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93822	0.8024	H	0.99705	4.715	0.80722	D	1	D;D;D	0.89917	0.976;1.0;0.999	P;D;D	0.97110	0.867;1.0;0.998	D	0.96583	0.9432	10	0.87932	D	0	.	15.7622	0.78091	1.0:0.0:0.0:0.0	.	1124;1124;1117	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	P	1121;1117;1124;1124;1098	ENSP00000440392:L1121P;ENSP00000440542:L1117P;ENSP00000312419:L1124P;ENSP00000349508:L1124P	ENSP00000312419:L1124P	L	-	2	0	CHD4	6567819	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.204000	0.95041	2.206000	0.71126	0.358000	0.22013	CTT		0.428	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		17	54	0	0	0	1	0	17	54					G	6697558	A	G	6697558	3	3	25	1	0	0	0	0	1	0	0	0	3329	72	3	4	2439	4	CHD4	12	6697558	Missense_Mutation	SNP	A	TCGA-N8-A4PI-01A-21D-A28R-08		6697558	127154337	41	2560										
CHD4	1108	broad.mit.edu	37	chr12	6710697	6710697	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	ttttggcagcaatgaggggtCtggtggagaaatgcacaaga	15	5	1	3			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:6710697C>T	ENST00000357008.2	-	6	721		c.e6-1		CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000309577.6_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)			central_nervous_system(2)	2						AATGAGGGGTCTGGTGGAGAA	0.438																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.e6-1		chromodomain helicase DNA binding protein 4							206	232	223					12																	6710697		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.chr12:6710697C>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.558-1G>A	12.37:g.6710697C>T			Somatic				CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000357008.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q14839	CHD4_HUMAN			6	721	-								Q8IXZ5	Splice_Site	SNP	ENST00000357008.2	37		CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633444	0.67015	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2084	0.98285	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD4	6580958	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.445000	0.80570	2.774000	0.95407	0.650000	0.86243	.		0.438	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	Intron	130	125	0	0	0	1	0	130	125					T	6710697	C	T	6710697	5	4	25	1	0	0	0	0	0	0	1	0	3329	927	32	3	5321	3	CHD4	12	6710697	Splice_Site	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08	13139	6710697	127141198	42	2561										
CBX5	23468	broad.mit.edu	37	chr12	54645939	54645939	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	tcaccctccttcatcttcttAtactttttcataaattcaga	1	12	6	1			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:54645939A>T	ENST00000439541.2	-	3	335	c.210T>A	c.(208-210)taT>taA	p.Y70*	CBX5_ENST00000209875.4_Nonsense_Mutation_p.Y70*|CBX5_ENST00000550411.1_Nonsense_Mutation_p.Y70*	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	70	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				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						TCATCTTCTTATACTTTTTCA	0.363																																					Colon(153;588 2459 18334 48613)	ENST00000209875.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						c.(208-210)taT>taA		chromobox homolog 5							100	103	102					12																	54645939		2203	4300	6503	SO:0001587	stop_gained	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.chr12:54645939A>T	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.210T>A	12.37:g.54645939A>T	ENSP00000401009:p.Tyr70*		Somatic				CBX5_ENST00000550411.1_Nonsense_Mutation_p.Y70*|CBX5_ENST00000439541.2_Nonsense_Mutation_p.Y70*	p.Y70*	NM_012117.2	NP_036249.1	WXS	Illumina GAIIx	Phase_I	P45973	CBX5_HUMAN			3	346	-			70			Chromo 1.		B2R8T9	Nonsense_Mutation	SNP	ENST00000439541.2	37	c.210T>A	CCDS8875.1	.	.	.	.	.	.	.	.	.	.	A	34	5.357352	0.95854	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411;ENST00000552562	.	.	.	5.22	1.5	0.22942	.	0.122271	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-8.6843	6.9904	0.24751	0.656:0.0:0.344:0.0	.	.	.	.	X	70	.	ENSP00000209875:Y70X	Y	-	3	2	CBX5	52932206	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.616000	0.36933	0.482000	0.27582	0.533000	0.62120	TAT		0.363	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117		14	59	0	0	0	1	0	14	59					T	54645939	A	T	54645939	4	4	25	1	0	0	0	0	0	1	0	0	2723	456	16	4	377	4	CBX5	12	54645939	Nonsense_Mutation	SNP	A	TCGA-N8-A4PI-01A-21D-A28R-08	47935242	54645939	79205956	43	2562										
NOVA1	4857	broad.mit.edu	37	chr14	26949251	26949251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	gactggttctgtcttggccaCattttggggcatttctcgaa	11	9	3	0			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr14:26949251C>T	ENST00000344429.5	-	3	382	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	NOVA1_ENST00000267422.7_Missense_Mutation_p.V5M|NOVA1_ENST00000539517.2_Missense_Mutation_p.V127M|NOVA1_ENST00000547619.1_Missense_Mutation_p.V127M|NOVA1_ENST00000465357.2_Missense_Mutation_p.V127M|NOVA1_ENST00000574031.1_Missense_Mutation_p.V127M	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	130					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)		GTCTTGGCCACATTTTGGGGC	0.438																																						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.(379-381)Gtg>Atg		neuro-oncological ventral antigen 1							197	163	174					14																	26949251		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26949251C>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.379G>A	14.37:g.26949251C>T	ENSP00000342387:p.Val127Met		Somatic				NOVA1_ENST00000344429.5_Missense_Mutation_p.V127M|NOVA1_ENST00000547619.1_Missense_Mutation_p.V127M|NOVA1_ENST00000465357.2_Missense_Mutation_p.V127M|NOVA1_ENST00000574031.1_Missense_Mutation_p.V127M|NOVA1_ENST00000267422.7_Missense_Mutation_p.V5M	p.V127M	NM_002515.2	NP_002506.2	WXS	Illumina GAIIx	Phase_I	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	3	696	-			130					A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000344429.5	37	c.379G>A	CCDS9635.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666487	0.29604	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476;ENST00000549146;ENST00000549571;ENST00000344429;ENST00000547619	T;T;T;T;T;T;T;T;T	0.47869	1.47;1.49;1.57;1.46;1.41;0.94;0.93;0.86;0.83	5.71	5.71	0.89125	.	0.229939	0.30252	N	0.010046	T	0.32376	0.0827	N	0.08118	0	0.50813	D	0.999892	B;B;P;P	0.49447	0.156;0.149;0.553;0.924	B;B;B;B	0.41764	0.064;0.053;0.146;0.366	T	0.12319	-1.0552	10	0.23302	T	0.38	-26.7679	19.8535	0.96748	0.0:1.0:0.0:0.0	.	127;130;127;127	P51513-2;P51513;D3DS81;P51513-4	.;NOVA1_HUMAN;.;.	M	127;127;5;86;5;5;90;127;127	ENSP00000447391:V127M;ENSP00000438875:V127M;ENSP00000267422:V5M;ENSP00000408914:V86M;ENSP00000299472:V5M;ENSP00000449113:V5M;ENSP00000449185:V90M;ENSP00000342387:V127M;ENSP00000448157:V127M	ENSP00000267422:V5M	V	-	1	0	NOVA1	26019091	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.997000	0.57016	2.686000	0.91538	0.585000	0.79938	GTG		0.438	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491		13	48	0	0	0	1	0	13	48					T	26949251	C	T	26949251	3	4	25	1	0	0	0	0	1	0	0	0	10563	478	17	3	1187	3	NOVA1	14	26949251	Missense_Mutation	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08		26949251	80400289	44	2563										
ARHGAP5	394	broad.mit.edu	37	chr14	32562648	32562648	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	tgtattctttatctcagtatCatcggcaaactgaggtcttt	7	8	4	1			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr14:32562648C>A	ENST00000345122.3	+	2	3088	c.2773C>A	c.(2773-2775)Cat>Aat	p.H925N	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H925N|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H925N|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H925N|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	925					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)		ATCTCAGTATCATCGGCAAAC	0.323																																					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.(2773-2775)Cat>Aat		Rho GTPase activating protein 5							86	81	83					14																	32562648		2203	4299	6502	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32562648C>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.2773C>A	14.37:g.32562648C>A	ENSP00000371897:p.His925Asn		Somatic				ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H925N|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H925N|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H925N	p.H925N	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	3088	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		925					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.2773C>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.761335	0.49468	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.16981	0.0408	L	0.36672	1.1	0.80722	D	1	P;P	0.50443	0.935;0.893	P;P	0.55391	0.775;0.601	T	0.01472	-1.1346	10	0.25106	T	0.35	.	20.1225	0.97967	0.0:1.0:0.0:0.0	.	925;925	Q13017-2;Q13017	.;RHG05_HUMAN	N	925	ENSP00000452222:H925N;ENSP00000441692:H925N;ENSP00000371897:H925N;ENSP00000393307:H925N	ENSP00000371897:H925N	H	+	1	0	ARHGAP5	31632399	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.831000	0.97527	0.650000	0.86243	CAT		0.323	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		21	17	1	0	3.62473e-10	1	3.95859e-10	21	17					A	32562648	C	A	32562648	3	1	25	1	0	0	0	0	1	0	0	0	886	826	29	2	2775	2	ARHGAP5	14	32562648	Missense_Mutation	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08	5613397	32562648	74786892	45	2564										
PRPF8	10594	broad.mit.edu	37	chr17	1563260	1563260	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	attgtctccttttgtactgtCtcaatttccagtgcatcaag	6	10	3	0			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:1563260C>T	ENST00000572621.1	-	30	5086	c.4821G>A	c.(4819-4821)gaG>gaA	p.E1607E	PRPF8_ENST00000304992.6_Silent_p.E1607E			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1607	Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTTGTACTGTCTCAATTTCCA	0.413																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4819-4821)gaG>gaA		pre-mRNA processing factor 8							172	143	153					17																	1563260		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1563260C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4821G>A	17.37:g.1563260C>T			Somatic				PRPF8_ENST00000304992.6_Silent_p.E1607E	p.E1607E			WXS	Illumina GAIIx	Phase_I	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	30	5086	-			1607					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.4821G>A	CCDS11010.1																																																																																				0.413	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			10	106	0	0	0	1	0	10	106					T	1563260	C	T	1563260	2	4	25	1	0	0	0	0	0	0	0	1	12587	912	32	3		3	PRPF8	17	1563260	Silent	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08		1563260	79631950	46	2565										
TP53	7157	broad.mit.edu	37	chr17	7577498	7577498	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	gggtggcaagtggctcctgaCctggagtcttccagtgtgat	15	9	1	2			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:7577498C>T	ENST00000269305.4	-	7	972		c.e7+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(29)|p.0?(8)|p.E258fs*71(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)	TGGCTCCTGACCTGGAGTCTT	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"		38	Unknown(29)|Whole gene deletion(8)|Deletion - Frameshift(1)	p.?(29)|p.0?(8)|p.E258fs*71(1)	breast(5)|ovary(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|large_intestine(2)|oesophagus(2)|peritoneum(1)|biliary_tract(1)|liver(1)|urinary_tract(1)|salivary_gland(1)|lung(1)|skin(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.e7+1	Other conserved DNA damage response genes	tumor protein p53							121	85	97					17																	7577498		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.chr17:7577498C>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.782+1G>A	17.37:g.7577498C>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_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_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)	7	915	-		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	12.61	1.989137	0.35131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.688	0.69062	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518223	1.000000	0.71417	0.987000	0.45799	0.147000	0.21601	3.111000	0.50360	2.406000	0.81754	0.462000	0.41574	.		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	27	55	0	0	0	1	0	27	55					T	7577498	C	T	7577498	5	4	25	1	0	0	0	0	0	0	1	0	16396	521	18	3	507	3	TP53	17	7577498	Splice_Site	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08	6014238	7577498	73617712	47	2566										
TP53	7157	broad.mit.edu	37	chr17	7578382	7578382	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	gctgctcaccatcgctatctGagcagcgctcatggtggggg	14	12	3	1			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:7578382G>C	ENST00000269305.4	-	5	737	c.548C>G	c.(547-549)tCa>tGa	p.S183*	TP53_ENST00000413465.2_Nonsense_Mutation_p.S183*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Nonsense_Mutation_p.S183*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S183*|TP53_ENST00000420246.2_Nonsense_Mutation_p.S183*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S183*	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	183	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S183*(29)|p.0?(8)|p.H178_S183delHHERCS(3)|p.R174fs*24(3)|p.?(2)|p.S183L(2)|p.S51*(2)|p.S90*(2)|p.V173fs*59(2)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.H46_S51delHHERCS(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.D184fs*4(1)|p.R42fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATCGCTATCTGAGCAGCGCTC	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"		61	Substitution - Nonsense(33)|Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)|Substitution - Missense(2)|Insertion - In frame(1)	p.S183*(29)|p.0?(8)|p.H178_S183delHHERCS(3)|p.R174fs*24(3)|p.?(2)|p.S183L(2)|p.S51*(2)|p.S90*(2)|p.V173fs*59(2)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.H46_S51delHHERCS(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.D184fs*4(1)|p.R42fs*24(1)	lung(14)|upper_aerodigestive_tract(10)|large_intestine(9)|urinary_tract(7)|central_nervous_system(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|stomach(1)|oesophagus(1)|prostate(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.(547-549)tCa>tGa	Other conserved DNA damage response genes	tumor protein p53							47	46	47					17																	7578382		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578382G>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.548C>G	17.37:g.7578382G>C	ENSP00000269305:p.Ser183*	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_Nonsense_Mutation_p.S183*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S183*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Nonsense_Mutation_p.S183*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S183*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S183*	p.S183*	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	680	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	183		S -> L (in sporadic cancers; somatic mutation).|S -> P (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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.548C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279499	0.59758	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.47	4.49	0.54785	.	0.792587	0.11610	N	0.546873	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-5.9105	8.094	0.30818	0.084:0.1611:0.7549:0.0	.	.	.	.	X	183;183;183;183;183;183;172;90;51;90;51	.	ENSP00000269305:S183X	S	-	2	0	TP53	7519107	0.001000	0.12720	0.516000	0.27786	0.577000	0.36160	0.920000	0.28705	1.440000	0.47531	0.563000	0.77884	TCA		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		48	40	0	0	0	1	0	48	40					C	7578382	G	C	7578382	4	2	25	1	0	0	0	0	0	1	0	0	16396	1294	45	2	750	2	TP53	17	7578382	Nonsense_Mutation	SNP	G	TCGA-N8-A4PI-01A-21D-A28R-08	884	7578382	73616828	48	2567										
MAPK7	5598	broad.mit.edu	37	chr17	19284178	19284178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	tgaacatcagtacttcatgaCtgagtatgtggccacgcgct	10	10	2	3			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:19284178C>A	ENST00000308406.5	+	4	1042	c.656C>A	c.(655-657)aCt>aAt	p.T219N	MAPK7_ENST00000395604.3_Missense_Mutation_p.T219N|B9D1_ENST00000477478.2_5'Flank|B9D1_ENST00000468679.3_5'Flank|MAPK7_ENST00000395602.4_Missense_Mutation_p.T219N|MAPK7_ENST00000571657.1_Intron|MFAP4_ENST00000574313.2_5'Flank|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000299612.7_Missense_Mutation_p.T80N	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	219	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|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 transforming growth factor beta stimulus (GO:0071560)|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 cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TACTTCATGACTGAGTATGTG	0.527																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(655-657)aCt>aAt		mitogen-activated protein kinase 7							100	85	90					17																	19284178		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|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	ATP binding|MAP kinase activity|protein binding	g.chr17:19284178C>A	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.656C>A	17.37:g.19284178C>A	ENSP00000311005:p.Thr219Asn		Somatic				MAPK7_ENST00000395604.3_Missense_Mutation_p.T219N|MAPK7_ENST00000299612.7_Missense_Mutation_p.T80N|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.T219N	p.T219N	NM_139033.2	NP_620602.2	WXS	Illumina GAIIx	Phase_I	Q13164	MK07_HUMAN			4	1042	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		219			Necessary for oligomerization (By similarity).|Protein kinase.		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.656C>A	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907779	0.72868	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000443215;ENST00000395604;ENST00000395602	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	4.74	4.74	0.60224	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	0.84160	0.5411	M	0.88512	2.96	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	D	0.87589	0.2489	10	0.87932	D	0	-24.6645	15.5975	0.76599	0.0:1.0:0.0:0.0	.	219	Q13164	MK07_HUMAN	N	219;80;219;219;219	ENSP00000311005:T219N;ENSP00000299612:T80N;ENSP00000412902:T219N;ENSP00000378968:T219N;ENSP00000378966:T219N	ENSP00000299612:T80N	T	+	2	0	MAPK7	19224771	1.000000	0.71417	0.954000	0.39281	0.774000	0.43823	7.592000	0.82676	2.335000	0.79485	0.561000	0.74099	ACT		0.527	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		4	71	1	0	0.00024832	1	0.000257632	4	71					A	19284178	C	A	19284178	3	1	25	1	0	0	0	0	1	0	0	0	9291	565	20	5	666	5	MAPK7	17	19284178	Missense_Mutation	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08	11705796	19284178	61911032	49	2568										
WNT9B	7484	broad.mit.edu	37	chr17	44953734	44953734	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	gccaggtgctgaaactgcgcTatgactcggctgtcaaggtg	14	10	1	2			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:44953734T>A	ENST00000290015.2	+	4	777	c.724T>A	c.(724-726)Tat>Aat	p.Y242N	WNT9B_ENST00000393461.2_Missense_Mutation_p.Y242N	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	242					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GAAACTGCGCTATGACTCGGC	0.647																																						ENST00000393461.2																			0				large_intestine(2)|lung(8)	10						c.(724-726)Tat>Aat		wingless-type MMTV integration site family, member 9B							74	65	68					17																	44953734		2203	4300	6503	SO:0001583	missense	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44953734T>A	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"Wingless-type MMTV integration sites"	12779	protein-coding gene	gene with protein product		602864	"wingless-type MMTV integration site family, member 15"	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.724T>A	17.37:g.44953734T>A	ENSP00000290015:p.Tyr242Asn		Somatic				WNT9B_ENST00000290015.2_Missense_Mutation_p.Y242N	p.Y242N			WXS	Illumina GAIIx	Phase_I	O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		4	777	+			242					Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	c.724T>A	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.845141	0.71603	.	.	ENSG00000158955	ENST00000376843;ENST00000393461;ENST00000290015	D;D	0.83075	-1.68;-1.68	4.56	3.47	0.39725	.	0.065224	0.64402	D	0.000005	D	0.92244	0.7540	H	0.97291	3.975	0.80722	D	1	D;P	0.58268	0.982;0.918	P;P	0.58077	0.832;0.694	D	0.92664	0.6144	10	0.87932	D	0	.	10.2124	0.43150	0.0:0.0787:0.0:0.9213	.	242;242	E7EPC3;O14905	.;WNT9B_HUMAN	N	236;242;242	ENSP00000377105:Y242N;ENSP00000290015:Y242N	ENSP00000290015:Y242N	Y	+	1	0	WNT9B	42308733	1.000000	0.71417	0.990000	0.47175	0.530000	0.34684	6.132000	0.71676	0.784000	0.33661	0.459000	0.35465	TAT		0.647	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		37	46	0	0	0	1	0	37	46					A	44953734	T	A	44953734	3	1	25	1	0	0	0	0	1	0	0	0	17414	1522	53	4	738	4	WNT9B	17	44953734	Missense_Mutation	SNP	T	TCGA-N8-A4PI-01A-21D-A28R-08	25669556	44953734	36241476	50	2569										
SOX9	6662	broad.mit.edu	37	chr17	70120195	70120195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	cagcgaacgcacatcaagacGgagcagctgagccccagcca	11	15	1	2			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:70120195G>A	ENST00000245479.2	+	3	1569	c.1197G>A	c.(1195-1197)acG>acA	p.T399T		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	399					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)			ACATCAAGACGGAGCAGCTGA	0.682																																					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.(1195-1197)acG>acA		SRY (sex determining region Y)-box 9							148	139	142					17																	70120195		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:70120195G>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.1197G>A	17.37:g.70120195G>A			Somatic					p.T399T	NM_000346.3	NP_000337.1	WXS	Illumina GAIIx	Phase_I	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		3	1569	+		Colorectal(1115;0.245)	399					Q53Y80	Silent	SNP	ENST00000245479.2	37	c.1197G>A	CCDS11689.1																																																																																				0.682	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		10	175	0	0	0	1	0	10	175					A	70120195	G	A	70120195	2	1	25	1	0	0	0	0	0	0	0	1	14973	1103	39	1		1	SOX9	17	70120195	Silent	SNP	G	TCGA-N8-A4PI-01A-21D-A28R-08	25166461	70120195	11075015	51	2570										
MAPK4	5596	broad.mit.edu	37	chr18	48190668	48190668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	acatggagaccgacctggcaCgcctgctggagcagggcacg	15	13	0	1	rs186595195		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr18:48190668C>T	ENST00000400384.2	+	2	1376	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	MAPK4_ENST00000592595.1_Missense_Mutation_p.R114C|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.R114C	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.R114C(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CGACCTGGCACGCCTGCTGGA	0.612													C|||	1	0.000199681	8e-04	0	5008	,	,		19036	0		0	False		,,,				2504	0					ENST00000400384.2																			1	Substitution - Missense(1)	p.R114C(1)	skin(1)	lung(4)|skin(3)|upper_aerodigestive_tract(1)	8						c.(340-342)Cgc>Tgc		mitogen-activated protein kinase 4							68	70	69					18																	48190668		2198	4296	6494	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48190668C>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"Mitogen-activated protein kinase cascade / Kinases"	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.340C>T	18.37:g.48190668C>T	ENSP00000383234:p.Arg114Cys		Somatic				MAPK4_ENST00000587823.1_Intron|MAPK4_ENST00000592595.1_Missense_Mutation_p.R114C|MAPK4_ENST00000588540.1_Missense_Mutation_p.R114C|MAPK4_ENST00000540640.1_Intron	p.R114C	NM_002747.3	NP_002738.2	WXS	Illumina GAIIx	Phase_I	P31152	MK04_HUMAN		Colorectal(21;0.156)	2	1376	+		Colorectal(6;0.0297)	114			Protein kinase.		A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.340C>T	CCDS42437.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	14.13	2.443101	0.43326	.	.	ENSG00000141639	ENST00000400384	T	0.45276	0.9	5.87	3.1	0.35709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.374522	0.26522	N	0.023911	T	0.41026	0.1141	M	0.73430	2.235	0.41683	D	0.989308	B;B	0.18863	0.031;0.031	B;B	0.19391	0.025;0.025	T	0.27226	-1.0080	10	0.51188	T	0.08	-13.1557	7.513	0.27585	0.1353:0.7181:0.0:0.1466	.	114;114	Q0VG04;P31152	.;MK04_HUMAN	C	114	ENSP00000383234:R114C	ENSP00000383234:R114C	R	+	1	0	MAPK4	46444666	0.980000	0.34600	0.006000	0.13384	0.992000	0.81027	2.624000	0.46444	0.381000	0.24851	-0.215000	0.12644	CGC		0.612	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		44	55	0	0	0	1	0	44	55					T	48190668	C	T	48190668	3	4	25	1	0	0	0	0	1	0	0	0	9289	536	19	1	342	1	MAPK4	18	48190668	Missense_Mutation	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08		48190668	29886580	52	2571										
VPS4B	9525	broad.mit.edu	37	chr18	61067363	61067363	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	cttgaaccacagagagaatcAatttcatcaatgaagataat	6	7	3	5			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr18:61067363A>C	ENST00000238497.5	-	7	911	c.708T>G	c.(706-708)atT>atG	p.I236M	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	236					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						AGAGAGAATCAATTTCATCAA	0.343																																						ENST00000238497.5																			0				breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(706-708)atT>atG		vacuolar protein sorting 4 homolog B (S. cerevisiae)							76	79	78					18																	61067363		2203	4300	6503	SO:0001583	missense	9525				cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	g.chr18:61067363A>C	AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"ATPases / AAA-type"	10895	protein-coding gene	gene with protein product		609983	"suppressor of K+ transport defect 1", "vacuolar protein sorting 4B (yeast)"	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.708T>G	18.37:g.61067363A>C	ENSP00000238497:p.Ile236Met		Somatic				VPS4B_ENST00000591383.1_5'UTR	p.I236M	NM_004869.3	NP_004860.2	WXS	Illumina GAIIx	Phase_I	O75351	VPS4B_HUMAN			7	911	-			236					Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	c.708T>G	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.821309	0.71028	.	.	ENSG00000119541	ENST00000238497	D	0.97016	-4.21	5.84	1.04	0.20106	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97766	0.9267	M	0.89478	3.035	0.80722	D	1	B;B;B	0.31879	0.344;0.344;0.064	P;P;P	0.57776	0.827;0.827;0.719	D	0.96700	0.9517	10	0.87932	D	0	-23.4089	5.0916	0.14711	0.5641:0.0:0.2813:0.1546	.	236;236;236	A8K5D8;A8K4G7;O75351	.;.;VPS4B_HUMAN	M	236	ENSP00000238497:I236M	ENSP00000238497:I236M	I	-	3	3	VPS4B	59218343	0.453000	0.25721	1.000000	0.80357	0.983000	0.72400	-0.203000	0.09438	0.480000	0.27534	0.482000	0.46254	ATT		0.343	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869		26	26	0	0	0	1	0	26	26					C	61067363	A	C	61067363	3	2	25	1	0	0	0	0	1	0	0	0	17228	126	5	4	646	4	VPS4B	18	61067363	Missense_Mutation	SNP	A	TCGA-N8-A4PI-01A-21D-A28R-08	12876695	61067363	17009885	53	2572										
ZNF77	58492	broad.mit.edu	37	chr19	2934121	2934121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	gttctcgaagagacgagtaaCaagtgaacgcttttccgcaa	10	9	1	2			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:2934121C>T	ENST00000314531.4	-	4	1096	c.1004G>A	c.(1003-1005)tGt>tAt	p.C335Y		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACGAGTAACAAGTGAACGC	0.488																																						ENST00000314531.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1003-1005)tGt>tAt		zinc finger protein 77							122	108	113					19																	2934121		2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2934121C>T	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"Zinc fingers, C2H2-type", "-"	13150	protein-coding gene	gene with protein product		194551	"zinc finger protein 77 (pT1)"			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1004G>A	19.37:g.2934121C>T	ENSP00000319053:p.Cys335Tyr		Somatic					p.C335Y	NM_021217.2	NP_067040.1	WXS	Illumina GAIIx	Phase_I	Q15935	ZNF77_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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1096	-			335					Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.1004G>A	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	C	1.129	-0.652879	0.03480	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.06371	3.31	3.03	-2.5	0.06384	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01765	0.0056	N	0.04320	-0.23	0.09310	N	1	B	0.18166	0.026	B	0.11329	0.006	T	0.45731	-0.9241	9	0.02654	T	1	.	0.3467	0.00342	0.1925:0.2583:0.1902:0.359	.	335	Q15935	ZNF77_HUMAN	Y	129;335	ENSP00000319053:C335Y	ENSP00000319053:C335Y	C	-	2	0	ZNF77	2885121	0.000000	0.05858	0.000000	0.03702	0.784000	0.44337	-2.550000	0.00929	0.014000	0.14944	0.491000	0.48974	TGT		0.488	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		26	7	0	0	0	1	0	26	7					T	2934121	C	T	2934121	3	4	25	1	0	0	0	0	1	0	0	0	18157	478	17	3	637	3	ZNF77	19	2934121	Missense_Mutation	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08		2934121	56194862	54	2573										
KDM4B	23030	broad.mit.edu	37	chr19	5137981	5137981	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	ctgccctcccaggtggatccAcgtgatctgtgccatcgcag	11	15	1	1			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:5137981A>C	ENST00000159111.4	+	18	2668	c.2450A>C	c.(2449-2451)cAc>cCc	p.H817P	KDM4B_ENST00000536461.1_Missense_Mutation_p.H851P	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	817					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						AGGTGGATCCACGTGATCTGT	0.672																																						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.(2449-2451)cAc>cCc		lysine (K)-specific demethylase 4B							48	42	44					19																	5137981		2202	4298	6500	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.chr19:5137981A>C	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.2450A>C	19.37:g.5137981A>C	ENSP00000159111:p.His817Pro		Somatic				KDM4B_ENST00000536461.1_Missense_Mutation_p.H851P	p.H817P	NM_015015.2	NP_055830.1	WXS	Illumina GAIIx	Phase_I	O94953	KDM4B_HUMAN			18	2668	+			817					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.2450A>C	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	A	33	5.277021	0.95459	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.42131	0.98;0.98	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.75867	0.3908	H	0.97635	4.045	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.87578	0.997;0.998	D	0.84873	0.0826	10	0.87932	D	0	-41.5844	13.7464	0.62879	1.0:0.0:0.0:0.0	.	851;817	F5GX28;O94953	.;KDM4B_HUMAN	P	817;851	ENSP00000159111:H817P;ENSP00000440495:H851P	ENSP00000159111:H817P	H	+	2	0	KDM4B	5088981	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	8.862000	0.92283	1.666000	0.50821	0.459000	0.35465	CAC		0.672	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		5	13	0	0	0	1	0	5	13					C	5137981	A	C	5137981	3	2	25	1	0	0	0	0	1	0	0	0	8138	159	6	4	2512	4	KDM4B	19	5137981	Missense_Mutation	SNP	A	TCGA-N8-A4PI-01A-21D-A28R-08	2203860	5137981	53991002	55	2574										
RYR1	6261	broad.mit.edu	37	chr19	38976497	38976497	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	tccatgctctctgaatacatCgtgcccctcacgcctgagac	7	16	2	2			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:38976497C>T	ENST00000359596.3	+	34	5202	c.5202C>T	c.(5200-5202)atC>atT	p.I1734I	RYR1_ENST00000355481.4_Silent_p.I1734I|RYR1_ENST00000360985.3_Silent_p.I1734I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1734	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTGAATACATCGTGCCCCTCA	0.632																																						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.(5200-5202)atC>atT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						72	72	72					19																	38976497		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.chr19:38976497C>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.5202C>T	19.37:g.38976497C>T			Somatic				RYR1_ENST00000360985.3_Silent_p.I1734I|RYR1_ENST00000359596.3_Silent_p.I1734I	p.I1734I	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	5333	+	all_cancers(60;7.91e-06)		1734			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.5202C>T	CCDS33011.1																																																																																				0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			48	56	0	0	0	1	0	48	56					T	38976497	C	T	38976497	2	4	25	1	0	0	0	0	0	0	0	1	13783	874	31	1		1	RYR1	19	38976497	Silent	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08	33838516	38976497	20152486	56	2575										
ZNF667	63934	broad.mit.edu	37	chr19	56953959	56953959	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	ttcttccctgaatgccctttCttaggttttactaggactga	7	10	2	2			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:56953959C>G	ENST00000504904.3	-	7	1124	c.405G>C	c.(403-405)aaG>aaC	p.K135N	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.K263N|ZNF667_ENST00000292069.6_Missense_Mutation_p.K135N			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AATGCCCTTTCTTAGGTTTTA	0.393																																						ENST00000504904.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(403-405)aaG>aaC		zinc finger protein 667							100	106	104					19																	56953959		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953959C>G		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.405G>C	19.37:g.56953959C>G	ENSP00000439402:p.Lys135Asn		Somatic				ZNF667_ENST00000292069.6_Missense_Mutation_p.K135N|ZNF667_ENST00000342634.3_Missense_Mutation_p.K263N|ZNF667_ENST00000591790.1_3'UTR	p.K135N			WXS	Illumina GAIIx	Phase_I	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	7	1124	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	135					B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.405G>C	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	C	3.751	-0.051568	0.07362	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000360227	T;T;T	0.12361	2.69;2.69;2.69	4.98	2.85	0.33270	.	0.511373	0.16535	N	0.210198	T	0.12817	0.0311	L	0.39898	1.24	0.09310	N	1	P;B	0.43542	0.81;0.175	B;B	0.44224	0.444;0.227	T	0.12708	-1.0537	10	0.72032	D	0.01	-3.33	5.2763	0.15651	0.0:0.6512:0.1672:0.1816	.	263;135	E7EPS0;Q5HYK9	.;ZN667_HUMAN	N	263;135;135;9	ENSP00000344699:K263N;ENSP00000439402:K135N;ENSP00000292069:K135N	ENSP00000292069:K135N	K	-	3	2	ZNF667	61645771	0.002000	0.14202	0.002000	0.10522	0.000000	0.00434	0.903000	0.28475	0.701000	0.31803	-0.225000	0.12378	AAG		0.393	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		47	50	0	0	0	1	0	47	50					G	56953959	C	G	56953959	3	3	25	1	0	0	0	0	1	0	0	0	18089	912	32	2	1431	2	ZNF667	19	56953959	Missense_Mutation	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08	17977462	56953959	2175024	57	2576										
SYCP2	10388	broad.mit.edu	37	chr20	58448922	58448922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	cattctcaccaaaaacagtgGtcgtggaattggtgaacaac	9	9	1	1			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr20:58448922G>A	ENST00000357552.3	-	35	3769	c.3544C>T	c.(3544-3546)Cca>Tca	p.P1182S	SYCP2_ENST00000371001.2_Missense_Mutation_p.P1182S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1182					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)			AAAAACAGTGGTCGTGGAATT	0.338																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3544-3546)Cca>Tca		synaptonemal complex protein 2							113	96	102					20																	58448922		2203	4300	6503	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58448922G>A	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3544C>T	20.37:g.58448922G>A	ENSP00000350162:p.Pro1182Ser		Somatic				SYCP2_ENST00000371001.2_Missense_Mutation_p.P1182S	p.P1182S			WXS	Illumina GAIIx	Phase_I	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		35	3769	-	all_lung(29;0.00344)		1182					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.3544C>T	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.565770	0.00134	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.12984	2.63;2.63	4.92	-1.17	0.09648	.	1.047900	0.07478	N	0.903389	T	0.04363	0.0120	N	0.03608	-0.345	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.40308	-0.9570	10	0.02654	T	1	0.4225	5.4462	0.16537	0.3514:0.4506:0.1981:0.0	.	1182	Q9BX26	SYCP2_HUMAN	S	1182	ENSP00000360040:P1182S;ENSP00000350162:P1182S	ENSP00000350162:P1182S	P	-	1	0	SYCP2	57882317	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.200000	0.17257	-0.262000	0.09392	-0.251000	0.11542	CCA		0.338	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		9	27	0	0	0	1	0	9	27					A	58448922	G	A	58448922	3	1	25	1	0	0	0	0	1	0	0	0	15447	1261	44	3	1092	3	SYCP2	20	58448922	Missense_Mutation	SNP	G	TCGA-N8-A4PI-01A-21D-A28R-08		58448922	4576598	58	2577										
COL6A2	1292	broad.mit.edu	37	chr21	47552223	47552223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	cgtggcggggcccggaggcaCgcagagctgtccttcgtgtt	17	12	0	1	rs368164391		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr21:47552223C>T	ENST00000300527.4	+	28	2921	c.2817C>T	c.(2815-2817)caC>caT	p.H939H		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	939	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCCGGAGGCACGCAGAGCTGT	0.657																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2815-2817)caC>caT		collagen, type VI, alpha 2		C		0,4402		0,0,2201	33	35	34		2817	2.3	0.9	21		34	2,8596	1.2+/-3.3	0,2,4297	no	coding-synonymous	COL6A2	NM_001849.3		0,2,6498	TT,TC,CC		0.0233,0.0,0.0154		939/1020	47552223	2,12998	2201	4299	6500	SO:0001819	synonymous_variant	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47552223C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2817C>T	21.37:g.47552223C>T			Somatic					p.H939H	NM_001849.3	NP_001840.3	WXS	Illumina GAIIx	Phase_I	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	2921	+	Breast(49;0.245)		939			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.2817C>T	CCDS13728.1																																																																																				0.657	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			13	17	0	0	0	1	0	13	17					T	47552223	C	T	47552223	2	4	25	1	0	0	0	0	0	0	0	1	3702	535	19	1		1	COL6A2	21	47552223	Silent	SNP	C	TCGA-N8-A4PI-01A-21D-A28R-08		47552223	577672	59	2578										
RPS6KA3	6197	broad.mit.edu	37	chrX	20185863	20185863	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	acatactttccatcatcataTacctataaatttcaacatca	0	11	4	0			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chrX:20185863T>C	ENST00000379565.3	-	17	1653	c.1446A>G	c.(1444-1446)gtA>gtG	p.V482V	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000544447.1_Silent_p.V454V|RPS6KA3_ENST00000379548.4_Silent_p.V452V|RPS6KA3_ENST00000540702.1_Silent_p.V453V	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	482	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)	CATCATCATATACCTATAAAT	0.274																																						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.(1444-1446)gtA>gtG		ribosomal protein S6 kinase, 90kDa, polypeptide 3							105	114	111					X																	20185863		2203	4298	6501	SO:0001819	synonymous_variant	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20185863T>C	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.1446A>G	X.37:g.20185863T>C			Somatic				RPS6KA3_ENST00000544447.1_Silent_p.V454V|RPS6KA3_ENST00000379548.4_Silent_p.V452V|RPS6KA3_ENST00000540702.1_Silent_p.V453V|RPS6KA3_ENST00000479809.1_5'UTR	p.V482V	NM_004586.2	NP_004577.1	WXS	Illumina GAIIx	Phase_I	P51812	KS6A3_HUMAN			17	1653	-			482			Protein kinase 2.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Silent	SNP	ENST00000379565.3	37	c.1446A>G	CCDS14197.1																																																																																				0.274	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		3	44	0	0	0	1	0	3	44					C	20185863	T	C	20185863	2	2	25	1	0	0	0	0	0	0	0	1	13667	1393	49	4		4	RPS6KA3	23	20185863	Silent	SNP	T	TCGA-N8-A4PI-01A-21D-A28R-08		20185863	135084697	60	2579										
LONRF3	79836	broad.mit.edu	37	chrX	118109480	118109480	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0983606557377049	6	1	1.14377098992484	2.35108481262327	0.910097346821913	0.608391608391609	1	0	cccagcgcgagcgtcgcaacTccggcacgagggcaaccgac	13	17	0	0			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chrX:118109480T>G	ENST00000371628.3	+	1	768	c.737T>G	c.(736-738)cTc>cGc	p.L246R	LONRF3_ENST00000422289.2_5'Flank|LONRF3_ENST00000304778.7_Missense_Mutation_p.L246R	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	246							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GCGTCGCAACTCCGGCACGAG	0.687																																						ENST00000365713.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(736-738)cTc>cGc		LON peptidase N-terminal domain and ring finger 3							15	11	13					X																	118109480		2177	4247	6424	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118109480T>G	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.737T>G	X.37:g.118109480T>G	ENSP00000360690:p.Leu246Arg		Somatic				LONRF3_ENST00000304778.7_Missense_Mutation_p.L246R|LONRF3_ENST00000371628.3_Missense_Mutation_p.L246R	p.L246R			WXS	Illumina GAIIx	Phase_I	Q496Y0	LONF3_HUMAN			1	900	+			246					Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.737T>G	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.778554	0.70107	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628	T;T;T	0.64085	-0.08;-0.08;-0.08	4.26	4.26	0.50523	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000006	T	0.73682	0.3618	M	0.74647	2.275	0.80722	D	1	D;P	0.55385	0.971;0.919	P;P	0.58266	0.737;0.836	T	0.77501	-0.2564	10	0.72032	D	0.01	-9.6567	12.0456	0.53477	0.0:0.0:0.0:1.0	.	246;246	Q496Y0-2;Q496Y0	.;LONF3_HUMAN	R	246	ENSP00000360691:L246R;ENSP00000307732:L246R;ENSP00000360690:L246R	ENSP00000307732:L246R	L	+	2	0	LONRF3	117993508	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.280000	0.72626	1.702000	0.51228	0.430000	0.28490	CTC		0.687	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		10	0	0	0	0	1	0	10	0					G	118109480	T	G	118109480	3	3	25	1	0	0	0	0	1	0	0	0	8905	1551	54	4	739	4	LONRF3	23	118109480	Missense_Mutation	SNP	T	TCGA-N8-A4PI-01A-21D-A28R-08	97923617	118109480	37161080	61	2580										
USP48	84196	broad.mit.edu	37	chr1	22073590	22073590	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	cacataaggctccatatccaAaatttctgagaagccaatgt	6	10	1	1	rs370510874		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:22073590A>G	ENST00000308271.9	-	8	1609	c.961T>C	c.(961-963)Ttg>Ctg	p.L321L	USP48_ENST00000400301.1_Silent_p.L321L|USP48_ENST00000421625.2_Silent_p.L321L|USP48_ENST00000529637.1_Silent_p.L321L	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	321	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)		TCCATATCCAAAATTTCTGAG	0.328																																						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.(961-963)Ttg>Ctg		ubiquitin specific peptidase 48							84	83	83					1																	22073590		2203	4300	6503	SO:0001819	synonymous_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22073590A>G	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.961T>C	1.37:g.22073590A>G			Somatic				USP48_ENST00000421625.2_Silent_p.L321L|USP48_ENST00000529637.1_Silent_p.L321L|USP48_ENST00000400301.1_Silent_p.L321L	p.L321L	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)	8	1609	-		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)	321					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	c.961T>C	CCDS30623.1																																																																																				0.328	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		4	12	0	0	0	1	0	4	12					G	22073590	A	G	22073590	2	3	26	1	0	0	0	0	0	0	0	1	17094	11	1	4		4	USP48	1	22073590	Silent	SNP	A	TCGA-N8-A4PL-01A-11D-A28R-08		22073590	227177031	1	2581										
LYPLA2	11313	broad.mit.edu	37	chr1	24119221	24119226	+	In_Frame_Del	DEL	GTGTCT	GTGTCT	-													0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	tgctcaccgatgctgccaccGtgtctggagctgagcgggaa							TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:24119221_24119226delGTGTCT	ENST00000374514.3	+	2	356_361	c.49_54delGTGTCT	c.(49-54)gtgtctdel	p.VS17del	LYPLA2_ENST00000374503.3_In_Frame_Del_p.VS17del|LYPLA2_ENST00000374502.3_In_Frame_Del_p.VS17del|LYPLA2_ENST00000374505.2_In_Frame_Del_p.VS17del|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374501.1_5'Flank|LYPLA2_ENST00000400061.1_In_Frame_Del_p.VS17del	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	17					fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TGCTGCCACCGTGTCTGGAGCTGAGC	0.65																																						ENST00000374514.3																			0				endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(49-54)del		lysophospholipase II																																				SO:0001651	inframe_deletion	11313				fatty acid metabolic process	cytoplasm	hydrolase activity	g.chr1:24119221_24119226delGTGTCT	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961	ENST00000374514.3:c.49_54delGTGTCT	1.37:g.24119221_24119226delGTGTCT	ENSP00000363638:p.Val17_Ser18del		Somatic				LYPLA2_ENST00000400061.1_In_Frame_Del_p.VS17del|LYPLA2_ENST00000374502.3_In_Frame_Del_p.VS17del|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374503.3_In_Frame_Del_p.VS17del|LYPLA2_ENST00000374505.2_In_Frame_Del_p.VS17del	p.VS17del	NM_007260.2	NP_009191.1	WXS	Illumina GAIIx	Phase_I	O95372	LYPA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	2	356_361	+		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	17					Q7Z4Z2	In_Frame_Del	DEL	ENST00000374514.3	37	c.49_54delGTGTCT	CCDS241.1																																																																																				0.65	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			20	73						20	73	---	---	---	---	-	24119226	GTGTCT	-	24119221	7	5	26	1	0	1	0	1	0	0	0	0	9126	1145	40	0	51	0	LYPLA2	1	24119221	In_Frame_Del	DEL	GTGTCT	TCGA-N8-A4PL-01A-11D-A28R-08	2045631	24119221	225131400	2	2582										
CYP4Z1	199974	broad.mit.edu	37	chr1	47533227	47533227	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	gctgctgatcctcctctgcaTgtctctgctgctgtttcagg	10	13	3	1			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:47533227T>A	ENST00000334194.3	+	1	68	c.65T>A	c.(64-66)aTg>aAg	p.M22K		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	22						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						CTCCTCTGCATGTCTCTGCTG	0.552																																						ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(64-66)aTg>aAg		cytochrome P450, family 4, subfamily Z, polypeptide 1							73	67	69					1																	47533227		2203	4297	6500	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47533227T>A	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.65T>A	1.37:g.47533227T>A	ENSP00000334246:p.Met22Lys		Somatic					p.M22K	NM_178134.2	NP_835235.1	WXS	Illumina GAIIx	Phase_I	Q86W10	CP4Z1_HUMAN			1	68	+			22					Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.65T>A	CCDS545.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326672	0.24080	.	.	ENSG00000186160	ENST00000334194	T	0.69685	-0.42	3.29	2.08	0.27032	.	0.261397	0.24463	U	0.038313	T	0.36799	0.0980	N	0.08118	0	0.09310	N	1	P	0.37061	0.58	B	0.29524	0.103	T	0.32824	-0.9892	10	0.66056	D	0.02	.	5.3635	0.16101	0.0:0.1455:0.0:0.8545	.	22	Q86W10	CP4Z1_HUMAN	K	22	ENSP00000334246:M22K	ENSP00000334246:M22K	M	+	2	0	CYP4Z1	47305814	0.016000	0.18221	0.152000	0.22495	0.074000	0.17049	2.259000	0.43259	1.348000	0.45733	0.378000	0.23410	ATG		0.552	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		21	19	0	0	0	1	0	21	19					A	47533227	T	A	47533227	3	1	26	1	0	0	0	0	1	0	0	0	4196	1464	51	4	67	4	CYP4Z1	1	47533227	Missense_Mutation	SNP	T	TCGA-N8-A4PL-01A-11D-A28R-08	23414006	47533227	201717394	3	2583										
PIP5K1A	8394	broad.mit.edu	37	chr1	151205104	151205104	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	ctattctatgtgtccagcgaCgatgagttcattattaagac	8	8	2	2	rs587724514		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:151205104C>T	ENST00000368888.4	+	7	986	c.564C>T	c.(562-564)gaC>gaT	p.D188D	PIP5K1A_ENST00000441902.2_Silent_p.D176D|PIP5K1A_ENST00000414290.2_5'Flank|PIP5K1A_ENST00000368890.4_Silent_p.D175D|PIP5K1A_ENST00000409426.1_Silent_p.D176D	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	188	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)			TGTCCAGCGACGATGAGTTCA	0.473													C|||	1	0.000199681	0	0	5008	,	,		19839	0		0	False		,,,				2504	0.001				Pancreas(80;36 1443 2325 16095 21302)	ENST00000409426.1																			0				breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5						c.(526-528)gaC>gaT		phosphatidylinositol-4-phosphate 5-kinase, type I, alpha							101	93	96					1																	151205104		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:151205104C>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.564C>T	1.37:g.151205104C>T			Somatic				PIP5K1A_ENST00000368890.4_Silent_p.D175D|PIP5K1A_ENST00000368888.4_Silent_p.D188D|PIP5K1A_ENST00000441902.2_Silent_p.D176D	p.D176D			WXS	Illumina GAIIx	Phase_I	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	973	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		188			PIPK.		A8K4Q0|B4DIN0|Q99754|Q99756	Silent	SNP	ENST00000368888.4	37	c.528C>T	CCDS44219.1																																																																																				0.473	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		11	42	0	0	0	1	0	11	42					T	151205104	C	T	151205104	2	4	26	1	0	0	0	0	0	0	0	1	11948	535	19	1		1	PIP5K1A	1	151205104	Silent	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	103671877	151205104	98045517	4	2584										
ARHGAP30	257106	broad.mit.edu	37	chr1	161017791	161017791	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	cttgagcctcagtcctttggCggtcccgggctagggccaca	13	14	1	1	rs140467510		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:161017791C>T	ENST00000368013.3	-	12	3340	c.3020G>A	c.(3019-3021)cGc>cAc	p.R1007H	USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R796H|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R830H|USF1_ENST00000435396.1_5'Flank	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	1007					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGTCCTTTGGCGGTCCCGGGC	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		18109	0		0	False		,,,				2504	0					ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(3019-3021)cGc>cAc		Rho GTPase activating protein 30		C	HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	64	69	67		3020,2387	5	1	1	dbSNP_134	67	0,8600		0,0,4300	yes	missense,missense	ARHGAP30	NM_001025598.1,NM_181720.2	29,29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging,probably-damaging	1007/1102,796/891	161017791	3,13003	2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161017791C>T	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.3020G>A	1.37:g.161017791C>T	ENSP00000356992:p.Arg1007His		Somatic				ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R796H|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R830H	p.R1007H	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)		12	3340	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		1007					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.3020G>A	CCDS30918.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.4	4.141414	0.77775	6.81E-4	0.0	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.54279	1.9;2.05;0.58	4.96	4.96	0.65561	.	0.000000	0.41001	D	0.000974	T	0.64972	0.2647	M	0.69823	2.125	0.33200	D	0.551982	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.70475	-0.4861	10	0.87932	D	0	.	15.6999	0.77535	0.0:1.0:0.0:0.0	.	1007;796	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	H	796;1007;830	ENSP00000356995:R796H;ENSP00000356992:R1007H;ENSP00000356994:R830H	ENSP00000356992:R1007H	R	-	2	0	ARHGAP30	159284415	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	2.980000	0.49321	2.284000	0.76573	0.455000	0.32223	CGC		0.582	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		4	105	0	0	0	1	0	4	105					T	161017791	C	T	161017791	3	4	26	1	0	0	0	0	1	0	0	0	879	768	27	1	289	1	ARHGAP30	1	161017791	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	9812687	161017791	88232830	5	2585										
ARHGAP30	257106	broad.mit.edu	37	chr1	161019440	161019440	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	agtcgtctgggcctgagtctGccaggggacttgaggctgga	17	9	2	2			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:161019440G>T	ENST00000368013.3	-	11	1780	c.1460C>A	c.(1459-1461)gCa>gAa	p.A487E	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.A487E|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.A310E	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	487					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCCTGAGTCTGCCAGGGGACT	0.557																																						ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1459-1461)gCa>gAa		Rho GTPase activating protein 30							65	68	67					1																	161019440		2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161019440G>T	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.1460C>A	1.37:g.161019440G>T	ENSP00000356992:p.Ala487Glu		Somatic				ARHGAP30_ENST00000368016.3_Missense_Mutation_p.A487E|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.A310E	p.A487E	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)		11	1780	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		487					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.1460C>A	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	G	8.999	0.979744	0.18812	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	T;T;T	0.30182	3.09;3.07;1.54	4.88	1.81	0.25067	.	0.403399	0.21256	N	0.077543	T	0.05318	0.0141	L	0.46157	1.445	0.25170	N	0.990289	B;B	0.32829	0.022;0.386	B;B	0.28011	0.006;0.085	T	0.39396	-0.9616	10	0.02654	T	1	.	3.9637	0.09421	0.2773:0.0:0.5412:0.1815	.	487;487	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	E	487;487;339;310	ENSP00000356995:A487E;ENSP00000356992:A487E;ENSP00000356994:A310E	ENSP00000356992:A487E	A	-	2	0	ARHGAP30	159286064	0.502000	0.26107	0.993000	0.49108	0.620000	0.37586	0.336000	0.19823	0.533000	0.28675	0.555000	0.69702	GCA		0.557	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		18	83	1	0	1.33834e-09	1	1.4454e-09	18	83					T	161019440	G	T	161019440	3	4	26	1	0	0	0	0	1	0	0	0	879	1319	46	5	1853	5	ARHGAP30	1	161019440	Missense_Mutation	SNP	G	TCGA-N8-A4PL-01A-11D-A28R-08	1649	161019440	88231181	6	2586										
IVNS1ABP	10625	broad.mit.edu	37	chr1	185268857	185268857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	ctcaccattaagaacagccaCtccagctcctcgcctagcca	5	18	1	1			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:185268857C>T	ENST00000367498.3	-	14	2282	c.1660G>A	c.(1660-1662)Gtg>Atg	p.V554M	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.V336M	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	554					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AGAACAGCCACTCCAGCTCCT	0.418																																						ENST00000367498.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(1660-1662)Gtg>Atg		influenza virus NS1A binding protein							125	127	126					1																	185268857		2203	4300	6503	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185268857C>T	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"Kelch-like", "BTB/POZ domain containing"	16951	protein-coding gene	gene with protein product	"kelch-like family member 39"	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1660G>A	1.37:g.185268857C>T	ENSP00000356468:p.Val554Met		Somatic				IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.V336M	p.V554M	NM_006469.4	NP_006460.2	WXS	Illumina GAIIx	Phase_I	Q9Y6Y0	NS1BP_HUMAN			14	2282	-			554					A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.1660G>A	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649822	0.67358	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	T;T	0.79033	-1.23;-1.23	5.5	5.5	0.81552	Galactose oxidase, beta-propeller (1);	0.053641	0.64402	D	0.000001	D	0.85418	0.5692	L	0.56769	1.78	0.80722	D	1	P;D;P	0.58268	0.696;0.982;0.908	B;P;P	0.60012	0.214;0.867;0.676	D	0.86232	0.1638	10	0.87932	D	0	.	19.7622	0.96325	0.0:1.0:0.0:0.0	.	336;255;554	A8MVR0;Q6MZF3;Q9Y6Y0	.;.;NS1BP_HUMAN	M	554;336	ENSP00000356468:V554M;ENSP00000375864:V336M	ENSP00000356468:V554M	V	-	1	0	IVNS1ABP	183535480	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	5.694000	0.68272	2.732000	0.93576	0.650000	0.86243	GTG		0.418	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		25	99	0	0	0	1	0	25	99					T	185268857	C	T	185268857	3	4	26	1	0	0	0	0	1	0	0	0	7939	565	20	3	276	3	IVNS1ABP	1	185268857	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	24249417	185268857	63981764	7	2587										
LGR6	59352	broad.mit.edu	37	chr1	202245457	202245457	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	cctagatgccaacctcatctCcctggtcccggagaggagct	10	15	2	2			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:202245457C>G	ENST00000367278.3	+	5	541	c.452C>G	c.(451-453)tCc>tGc	p.S151C	LGR6_ENST00000255432.7_Missense_Mutation_p.S99C|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Intron	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	151					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AACCTCATCTCCCTGGTCCCG	0.617																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(451-453)tCc>tGc		leucine-rich repeat containing G protein-coupled receptor 6							66	63	64					1																	202245457		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202245457C>G	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.452C>G	1.37:g.202245457C>G	ENSP00000356247:p.Ser151Cys		Somatic				LGR6_ENST00000255432.7_Missense_Mutation_p.S99C|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Intron	p.S151C	NM_001017403.1	NP_001017403.1	WXS	Illumina GAIIx	Phase_I	Q9HBX8	LGR6_HUMAN			5	541	+			151					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.452C>G	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926965	0.73327	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000367277;ENST00000423542	T;T;T	0.27256	3.43;3.43;1.68	5.07	5.07	0.68467	.	0.127040	0.56097	D	0.000033	T	0.51568	0.1682	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.976;0.992	T	0.54153	-0.8336	10	0.66056	D	0.02	.	14.2701	0.66147	0.0:0.8513:0.1487:0.0	.	99;151	Q9HBX8-2;Q9HBX8	.;LGR6_HUMAN	C	151;99;77;77	ENSP00000356247:S151C;ENSP00000255432:S99C;ENSP00000402284:S77C	ENSP00000255432:S99C	S	+	2	0	LGR6	200512080	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	3.006000	0.49529	2.632000	0.89209	0.637000	0.83480	TCC		0.617	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		12	47	0	0	0	1	0	12	47					G	202245457	C	G	202245457	3	3	26	1	0	0	0	0	1	0	0	0	8767	855	30	2	617	2	LGR6	1	202245457	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	16976600	202245457	47005164	8	2588										
USH2A	7399	broad.mit.edu	37	chr1	216246463	216246463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	aaaaggctggagaccaccctCgtaaacactctgctcttttc	7	13	2	1	rs529355834		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:216246463C>T	ENST00000307340.3	-	28	6138	c.5752G>A	c.(5752-5754)Gag>Aag	p.E1918K	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.E1918K|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1918	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGACCACCCTCGTAAACACTC	0.478										HNSCC(13;0.011)			C|||	1	0.000199681	0	0	5008	,	,		17998	0		0	False		,,,				2504	0.001					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.(5752-5754)Gag>Aag		Usher syndrome 2A (autosomal recessive, mild)							84	76	79					1																	216246463		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.chr1:216246463C>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.5752G>A	1.37:g.216246463C>T	ENSP00000305941:p.Glu1918Lys	HNSCC(13;0.011)	Somatic				RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.E1918K|RP11-22M7.2_ENST00000446411.1_RNA	p.E1918K			WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	28	6138	-			1918			Fibronectin type-III 5.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5752G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885996	0.91814	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.39056	1.1;1.1	5.76	5.76	0.90799	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.146825	0.30850	N	0.008749	T	0.39172	0.1068	L	0.57536	1.79	0.53005	D	0.999968	P	0.48640	0.913	B	0.34038	0.174	T	0.37911	-0.9685	10	0.36615	T	0.2	.	19.9857	0.97347	0.0:1.0:0.0:0.0	.	1918	O75445	USH2A_HUMAN	K	1918	ENSP00000305941:E1918K;ENSP00000355910:E1918K	ENSP00000305941:E1918K	E	-	1	0	USH2A	214313086	1.000000	0.71417	0.123000	0.21794	0.901000	0.52897	5.233000	0.65337	2.706000	0.92434	0.655000	0.94253	GAG		0.478	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		14	16	0	0	0	1	0	14	16					T	216246463	C	T	216246463	3	4	26	1	0	0	0	0	1	0	0	0	17051	893	31	1	10036	1	USH2A	1	216246463	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	14001006	216246463	33004158	9	2589										
POTEF	728378	broad.mit.edu	37	chr2	130832627	130832627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	ttagggttcagggtggcctcGgtcagcaggacggggtgctc	18	9	2	0	rs566969052		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr2:130832627G>A	ENST00000409914.2	-	17	2817	c.2418C>T	c.(2416-2418)acC>acT	p.T806T	POTEF_ENST00000357462.5_Silent_p.T806T	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	806	Actin-like.				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						GGGTGGCCTCGGTCAGCAGGA	0.587													.|||	1	0.000199681	0	0	5008	,	,		21008	0		0	False		,,,				2504	0.001					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.(2416-2418)acC>acT		POTE ankyrin domain family, member F							122	131	128					2																	130832627		2203	4300	6503	SO:0001819	synonymous_variant	728378					cell cortex	ATP binding	g.chr2:130832627G>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.2418C>T	2.37:g.130832627G>A			Somatic				POTEF_ENST00000409914.2_Silent_p.T806T	p.T806T			WXS	Illumina GAIIx	Phase_I	A5A3E0	POTEF_HUMAN			15	2511	-			806			Actin-like.		A6NC34	Silent	SNP	ENST00000409914.2	37	c.2418C>T	CCDS46409.1																																																																																				0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		33	221	0	0	0	1	0	33	221					A	130832627	G	A	130832627	2	1	26	1	0	0	0	0	0	0	0	1	12274	1103	39	1		1	POTEF	2	130832627	Silent	SNP	G	TCGA-N8-A4PL-01A-11D-A28R-08		130832627	112366746	10	2590										
OSBPL6	114880	broad.mit.edu	37	chr2	179213992	179213992	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	tcaccagttcgcttgcattcCtccaaccccaacctttgtgc	5	17	1	0			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr2:179213992C>A	ENST00000190611.4	+	12	1405	c.1029C>A	c.(1027-1029)tcC>tcA	p.S343S	OSBPL6_ENST00000359685.3_Silent_p.S343S|OSBPL6_ENST00000357080.4_Silent_p.S312S|OSBPL6_ENST00000409045.3_Silent_p.S312S|OSBPL6_ENST00000409631.1_Silent_p.S343S|OSBPL6_ENST00000392505.2_Silent_p.S368S|OSBPL6_ENST00000315022.2_Silent_p.S347S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	343					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GCTTGCATTCCTCCAACCCCA	0.438																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1027-1029)tcC>tcA		oxysterol binding protein-like 6							259	247	251					2																	179213992		2203	4300	6503	SO:0001819	synonymous_variant	114880				lipid transport		lipid binding	g.chr2:179213992C>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1029C>A	2.37:g.179213992C>A			Somatic				OSBPL6_ENST00000409631.1_Silent_p.S343S|OSBPL6_ENST00000409045.3_Silent_p.S312S|OSBPL6_ENST00000392505.2_Silent_p.S368S|OSBPL6_ENST00000359685.3_Silent_p.S343S|OSBPL6_ENST00000357080.4_Silent_p.S312S|OSBPL6_ENST00000315022.2_Silent_p.S347S	p.S343S	NM_032523.3	NP_115912.1	WXS	Illumina GAIIx	Phase_I	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		12	1405	+			343					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	c.1029C>A	CCDS2277.1																																																																																				0.438	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		70	82	1	0	2.47556e-37	1	2.82423e-37	70	82					A	179213992	C	A	179213992	2	1	26	1	0	0	0	0	0	0	0	1	11290	668	24	5		5	OSBPL6	2	179213992	Silent	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	48381365	179213992	63985381	11	2591										
TTLL4	9654	broad.mit.edu	37	chr2	219612366	219612366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	gcggcagcaagtttgacctgCggatctatgtttatgtcact	11	9	2	1			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr2:219612366C>T	ENST00000392102.1	+	11	2636	c.2296C>T	c.(2296-2298)Cgg>Tgg	p.R766W	TTLL4_ENST00000258398.4_Missense_Mutation_p.R766W|TTLL4_ENST00000442769.1_Missense_Mutation_p.R702W|TTLL4_ENST00000457313.1_Missense_Mutation_p.R601W	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	766	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				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)		GTTTGACCTGCGGATCTATGT	0.498																																					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.(2296-2298)Cgg>Tgg		tubulin tyrosine ligase-like family, member 4							162	145	151					2																	219612366		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219612366C>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.2296C>T	2.37:g.219612366C>T	ENSP00000375951:p.Arg766Trp		Somatic				TTLL4_ENST00000258398.4_Missense_Mutation_p.R766W|TTLL4_ENST00000442769.1_Missense_Mutation_p.R702W|TTLL4_ENST00000457313.1_Missense_Mutation_p.R601W	p.R766W	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)	11	2636	+		Renal(207;0.0915)	766			TTL.		A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.2296C>T	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528634	0.85706	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.73009	0.3532	H	0.99487	4.59	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	0.83954	0.0318	10	0.87932	D	0	.	13.5799	0.61896	0.1654:0.8346:0.0:0.0	.	601;702;766	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	W	601;766;702;766	ENSP00000393332:R601W;ENSP00000375951:R766W;ENSP00000396555:R702W;ENSP00000258398:R766W	ENSP00000258398:R766W	R	+	1	2	TTLL4	219320610	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.053000	0.41326	2.746000	0.94184	0.655000	0.94253	CGG		0.498	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		19	73	0	0	0	1	0	19	73					T	219612366	C	T	219612366	3	4	26	1	0	0	0	0	1	0	0	0	16744	759	27	1	2330	1	TTLL4	2	219612366	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	40398374	219612366	23587007	12	2592										
CAND2	23066	broad.mit.edu	37	chr3	12858734	12858734	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	gcaggccctggtagggacccGtcccccgtgtgtggactatg	15	13	0	0			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr3:12858734G>C	ENST00000456430.2	+	10	2344	c.2303G>C	c.(2302-2304)cGt>cCt	p.R768P	CAND2_ENST00000295989.5_Missense_Mutation_p.R675P	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	768					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						GTAGGGACCCGTCCCCCGTGT	0.637																																					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.(2302-2304)cGt>cCt		cullin-associated and neddylation-dissociated 2 (putative)							38	42	41					3																	12858734		2049	4189	6238	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858734G>C		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.2303G>C	3.37:g.12858734G>C	ENSP00000387641:p.Arg768Pro		Somatic				CAND2_ENST00000295989.5_Missense_Mutation_p.R675P	p.R768P	NM_001162499.1	NP_001155971.1	WXS	Illumina GAIIx	Phase_I	O75155	CAND2_HUMAN			10	2344	+			768					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.2303G>C	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	7.789	0.711073	0.15239	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.50277	0.75;0.75	4.67	3.79	0.43588	Armadillo-like helical (1);Armadillo-type fold (1);	0.321794	0.28376	N	0.015575	T	0.37461	0.1004	L	0.40543	1.245	0.20403	N	0.999909	B;P	0.35456	0.0;0.502	B;B	0.38921	0.001;0.285	T	0.17561	-1.0365	10	0.30854	T	0.27	-18.2514	7.375	0.26823	0.2016:0.0:0.7984:0.0	.	768;675	O75155;O75155-2	CAND2_HUMAN;.	P	675;768	ENSP00000295989:R675P;ENSP00000387641:R768P	ENSP00000295989:R675P	R	+	2	0	CAND2	12833734	0.000000	0.05858	0.788000	0.31933	0.953000	0.61014	0.898000	0.28404	1.068000	0.40764	0.511000	0.50034	CGT		0.637	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		16	26	0	0	0	1	0	16	26					C	12858734	G	C	12858734	3	2	26	1	0	0	0	0	1	0	0	0	2618	1145	40	5	2341	5	CAND2	3	12858734	Missense_Mutation	SNP	G	TCGA-N8-A4PL-01A-11D-A28R-08		12858734	185163696	13	2593										
SLMAP	7871	broad.mit.edu	37	chr3	57882247	57882247	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	tttcttggtagaaaatcagaCaagagcaaaagaatctgatt	8	5	3	5			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr3:57882247C>G	ENST00000428312.1	+	14	1413	c.1319C>G	c.(1318-1320)aCa>aGa	p.T440R	SLMAP_ENST00000449503.2_Missense_Mutation_p.T402R|SLMAP_ENST00000295952.3_Missense_Mutation_p.T423R|SLMAP_ENST00000495364.1_5'UTR|SLMAP_ENST00000383718.3_Missense_Mutation_p.T436R|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000494088.1_5'UTR|SLMAP_ENST00000295951.3_Missense_Mutation_p.T423R|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000442599.2_5'UTR			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	440					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				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)		GAAAATCAGACAAGAGCAAAA	0.318																																						ENST00000383718.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18						c.(1306-1308)aCa>aGa		sarcolemma associated protein							45	48	47					3																	57882247		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.chr3:57882247C>G	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.1319C>G	3.37:g.57882247C>G	ENSP00000398661:p.Thr440Arg		Somatic				SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000449503.2_Missense_Mutation_p.T402R|SLMAP_ENST00000494088.1_5'UTR|SLMAP_ENST00000295951.3_Missense_Mutation_p.T423R|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000295952.3_Missense_Mutation_p.T423R|SLMAP_ENST00000495364.1_5'UTR|SLMAP_ENST00000442599.2_5'UTR|SLMAP_ENST00000428312.1_Missense_Mutation_p.T440R	p.T436R			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)	14	1405	+			440					Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	ENST00000428312.1	37	c.1307C>G		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.94|11.94|11.94	1.788336|1.788336|1.788336	0.31593|0.31593|0.31593	.|.|.	.|.|.	ENSG00000163681|ENSG00000163681|ENSG00000163681	ENST00000416658;ENST00000438794|ENST00000417128|ENST00000295951;ENST00000295952;ENST00000383718;ENST00000428312;ENST00000449503;ENST00000537224;ENST00000465203	.|.|T;T;T;T;T	.|.|0.43688	.|.|1.54;1.54;0.94;1.55;1.53	6.08|6.08|6.08	6.08|6.08|6.08	0.98989|0.98989|0.98989	.|.|.	.|.|0.370103	.|.|0.33916	.|.|N	.|.|0.004432	T|T|T	0.36193|0.36193|0.36193	0.0958|0.0958|0.0958	N|N|N	0.22421|0.22421|0.22421	0.69|0.69|0.69	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B;B;B;B;B	.|.|0.31383	.|.|0.127;0.041;0.042;0.321;0.178	.|.|B;B;B;B;B	.|.|0.37015	.|.|0.239;0.043;0.037;0.124;0.162	T|T|T	0.08006|0.08006|0.08006	-1.0743|-1.0743|-1.0743	5|5|10	.|.|0.13108	.|.|T	.|.|0.6	-2.5233|-2.5233|-2.5233	20.6721|20.6721|20.6721	0.99693|0.99693|0.99693	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|34;402;440;423;436	.|.|Q14BN4-4;Q14BN4-2;Q14BN4;Q14BN4-3;Q14BN4-6	.|.|.;.;SLMAP_HUMAN;.;.	E|E|R	47;18|24|423;423;436;440;402;34;147	.|.|ENSP00000295951:T423R;ENSP00000295952:T423R;ENSP00000373224:T436R;ENSP00000398661:T440R;ENSP00000412945:T402R	.|.|ENSP00000295951:T423R	D|Q|T	+|+|+	3|1|2	2|0|0	SLMAP|SLMAP|SLMAP	57857287|57857287|57857287	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.926000|0.926000|0.926000	0.56050|0.56050|0.56050	4.358000|4.358000|4.358000	0.59442|0.59442|0.59442	2.894000|2.894000|2.894000	0.99253|0.99253|0.99253	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAC|CAA|ACA		0.318	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		2	2	0	0	0	1	0	2	2					G	57882247	C	G	57882247	3	3	26	1	0	0	0	0	1	0	0	0	14764	478	17	5	1318	5	SLMAP	3	57882247	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	45023513	57882247	140140183	14	2594										
DOK7	285489	broad.mit.edu	37	chr4	3475359	3475359	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	cggatccgctatgcgctcggCgagggtgagtgacgggggcc	19	11	0	2	rs377367035		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr4:3475359C>T	ENST00000340083.5	+	3	392	c.327C>T	c.(325-327)ggC>ggT	p.G109G	DOK7_ENST00000389653.2_Silent_p.G109G|DOK7_ENST00000507039.1_Silent_p.G109G	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	109	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		G -> C (in LGM; results in a significant reduction of AChR clusters). {ECO:0000269|PubMed:22661499}.		neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ATGCGCTCGGCGAGGGTGAGT	0.706																																						ENST00000340083.5																			0				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5						c.(325-327)ggC>ggT		docking protein 7		C	,	0,3918		0,0,1959	14	15	15		327,327	-1.8	0.8	4		15	1,8229		0,1,4114	no	coding-synonymous,coding-synonymous	DOK7	NM_001164673.1,NM_173660.4	,	0,1,6073	TT,TC,CC		0.0122,0.0,0.0082	,	109/256,109/505	3475359	1,12147	1959	4115	6074	SO:0001819	synonymous_variant	285489				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding	g.chr4:3475359C>T	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"chromosome 4 open reading frame 25"	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.327C>T	4.37:g.3475359C>T			Somatic				DOK7_ENST00000389653.2_Silent_p.G109G|DOK7_ENST00000507039.1_Silent_p.G109G	p.G109G	NM_173660.4	NP_775931.3	WXS	Illumina GAIIx	Phase_I	Q18PE1	DOK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	3	392	+			109			IRS-type PTB.|PH.		A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Silent	SNP	ENST00000340083.5	37	c.327C>T	CCDS3370.2																																																																																				0.706	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		4	4	0	0	0	1	0	4	4					T	3475359	C	T	3475359	2	4	26	1	0	0	0	0	0	0	0	1	4704	755	27	1		1	DOK7	4	3475359	Silent	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08		3475359	187678917	15	2595										
JAKMIP1	152789	broad.mit.edu	37	chr4	6064099	6064099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	tcctggagcagggcgtaggcGcgttgcagggcctggtactc	17	11	0	0	rs149678000		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr4:6064099G>A	ENST00000282924.5	-	10	1985	c.1500C>T	c.(1498-1500)cgC>cgT	p.R500R	JAKMIP1_ENST00000457227.2_5'Flank|JAKMIP1_ENST00000410077.2_Silent_p.R335R|JAKMIP1_ENST00000409831.1_Silent_p.R500R|JAKMIP1_ENST00000409371.3_Silent_p.R315R|JAKMIP1_ENST00000409021.3_Silent_p.R500R	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	500	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGCGTAGGCGCGTTGCAGGG	0.642													G|||	1	0.000199681	0	0	5008	,	,		14934	0		0.001	False		,,,				2504	0					ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1498-1500)cgC>cgT		janus kinase and microtubule interacting protein 1		G	,	1,4399		0,1,2199	40	46	44		1500,1500	-4.8	0.9	4	dbSNP_134	44	2,8588		0,2,4293	no	coding-synonymous,coding-synonymous	JAKMIP1	NM_001099433.1,NM_144720.3	,	0,3,6492	AA,AG,GG		0.0233,0.0227,0.0231	,	500/832,500/627	6064099	3,12987	2200	4295	6495	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6064099G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1500C>T	4.37:g.6064099G>A			Somatic				JAKMIP1_ENST00000409831.1_Silent_p.R500R|JAKMIP1_ENST00000409371.3_Silent_p.R315R|JAKMIP1_ENST00000282924.5_Silent_p.R500R|JAKMIP1_ENST00000410077.2_Silent_p.R335R	p.R500R	NM_001099433.1	NP_001092903.1	WXS	Illumina GAIIx	Phase_I	Q96N16	JKIP1_HUMAN			10	1949	-			500			Mediates interaction with TYK2 and GABBR1.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	37	c.1500C>T	CCDS3385.1																																																																																				0.642	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		20	22	0	0	0	1	0	20	22					A	6064099	G	A	6064099	2	1	26	1	0	0	0	0	0	0	0	1	7949	1074	38	1		1	JAKMIP1	4	6064099	Silent	SNP	G	TCGA-N8-A4PL-01A-11D-A28R-08	2588740	6064099	185090177	16	2596										
KCNIP4	80333	broad.mit.edu	37	chr4	20760463	20760463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	cctccctgtggaaagaactgCgagtaaatctctttgaaggt	10	9	1	2			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr4:20760463C>T	ENST00000382152.2	-	4	506	c.339G>A	c.(337-339)tcG>tcA	p.S113S	KCNIP4_ENST00000382150.4_Silent_p.S92S|KCNIP4_ENST00000382148.3_Silent_p.S88S|KCNIP4_ENST00000509207.1_Silent_p.S51S|KCNIP4_ENST00000447367.2_Silent_p.S79S|KCNIP4_ENST00000359001.5_Silent_p.S51S|KCNIP4_ENST00000382149.4_5'UTR	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	113	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GAAAGAACTGCGAGTAAATCT	0.378																																						ENST00000382148.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(262-264)tcG>tcA		Kv channel interacting protein 4							120	121	121					4																	20760463		2203	4300	6503	SO:0001819	synonymous_variant	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20760463C>T	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"EF-hand domain containing"	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.339G>A	4.37:g.20760463C>T			Somatic				KCNIP4_ENST00000447367.2_Silent_p.S79S|KCNIP4_ENST00000359001.5_Silent_p.S51S|KCNIP4_ENST00000509207.1_Silent_p.S51S|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382150.4_Silent_p.S92S|KCNIP4_ENST00000382152.2_Silent_p.S113S	p.S88S	NM_001035003.1	NP_001030175.1	WXS	Illumina GAIIx	Phase_I	Q6PIL6	KCIP4_HUMAN			3	600	-		Breast(46;0.134)	113			EF-hand 1; degenerate.		Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Silent	SNP	ENST00000382152.2	37	c.264G>A	CCDS43216.1																																																																																				0.378	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		9	35	0	0	0	1	0	9	35					T	20760463	C	T	20760463	2	4	26	1	0	0	0	0	0	0	0	1	8051	755	27	1		1	KCNIP4	4	20760463	Silent	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	14696364	20760463	170393813	17	2597										
FAT4	79633	broad.mit.edu	37	chr4	126329626	126329626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	ggtagcagccattttagccaCggatgatgactctggtgtga	13	8	1	3	rs141773516		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr4:126329626C>T	ENST00000394329.3	+	4	5610	c.5597C>T	c.(5596-5598)aCg>aTg	p.T1866M	FAT4_ENST00000335110.5_Missense_Mutation_p.T164M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1866	Cadherin 18. {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						ATTTTAGCCACGGATGATGAC	0.328													C|||	1	0.000199681	0	0	5008	,	,		15360	0		0.001	False		,,,				2504	0					ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(5596-5598)aCg>aTg		FAT atypical cadherin 4		C	MET/THR	4,4400	8.1+/-20.4	0,4,2198	102	105	104		5597	5	1	4	dbSNP_134	104	0,8600		0,0,4300	yes	missense	FAT4	NM_024582.4	81	0,4,6498	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	1866/4982	126329626	4,13000	2202	4300	6502	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126329626C>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.5597C>T	4.37:g.126329626C>T	ENSP00000377862:p.Thr1866Met		Somatic				FAT4_ENST00000335110.5_Missense_Mutation_p.T164M	p.T1866M	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			4	5610	+			1866			Cadherin 18.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.5597C>T	CCDS3732.3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.97	3.518816	0.64634	9.08E-4	0.0	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.02552	4.25;4.25	5.03	5.03	0.67393	Cadherin (4);Cadherin-like (1);	0.000000	0.35262	U	0.003333	T	0.23330	0.0564	M	0.93763	3.455	0.49582	D	0.999809	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.977	T	0.18808	-1.0325	10	0.51188	T	0.08	.	18.3766	0.90437	0.0:1.0:0.0:0.0	.	164;1866	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	M	1866;164	ENSP00000377862:T1866M;ENSP00000335169:T164M	ENSP00000335169:T164M	T	+	2	0	FAT4	126549076	0.997000	0.39634	0.998000	0.56505	0.893000	0.52053	3.018000	0.49625	2.337000	0.79520	0.591000	0.81541	ACG		0.328	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		21	42	0	0	0	1	0	21	42					T	126329626	C	T	126329626	3	4	26	1	0	0	0	0	1	0	0	0	5700	536	19	1	5611	1	FAT4	4	126329626	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	105569163	126329626	64824650	18	2598										
PCDHB2	56133	broad.mit.edu	37	chr5	140475626	140475626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	tggaccgggagaccagatccGaatacaacatcaccatcacc	8	14	2	2			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr5:140475626G>A	ENST00000194155.4	+	1	1400	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCAGATCCGAATACAACAT	0.517																																						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.(1252-1254)Gaa>Aaa									135	125	128					5																	140475626		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475626G>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1252G>A	5.37:g.140475626G>A	ENSP00000194155:p.Glu418Lys		Somatic					p.E418K	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	1400	+			418			Cadherin 4.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1252G>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	9.118	1.008182	0.19199	.	.	ENSG00000112852	ENST00000194155	T	0.01705	4.68	5.11	2.22	0.28083	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02688	0.0081	M	0.66378	2.025	0.24947	N	0.991818	P	0.35656	0.514	B	0.34931	0.192	T	0.39035	-0.9633	9	0.59425	D	0.04	.	5.2867	0.15706	0.0746:0.2754:0.5155:0.1345	.	418	Q9Y5E7	PCDB2_HUMAN	K	418	ENSP00000194155:E418K	ENSP00000194155:E418K	E	+	1	0	PCDHB2	140455810	0.000000	0.05858	0.165000	0.22776	0.025000	0.11179	0.146000	0.16180	0.223000	0.20920	0.650000	0.86243	GAA		0.517	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		20	68	0	0	0	1	0	20	68					A	140475626	G	A	140475626	3	1	26	1	0	0	0	0	1	0	0	0	11551	1059	37	1	1254	1	PCDHB2	5	140475626	Missense_Mutation	SNP	G	TCGA-N8-A4PL-01A-11D-A28R-08		140475626	40439634	19	2599										
ARAP3	64411	broad.mit.edu	37	chr5	141052393	141052393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	cacgcagctccagcatgcccGtgcggaggggtcggggtggt	18	12	0	0	rs189760075	byFrequency	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr5:141052393G>A	ENST00000239440.4	-	8	1258	c.1193C>T	c.(1192-1194)aCg>aTg	p.T398M	ARAP3_ENST00000508305.1_Missense_Mutation_p.T320M|ARAP3_ENST00000513878.1_Missense_Mutation_p.T60M	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	398	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CAGCATGCCCGTGCGGAGGGG	0.672													G|||	2	0.000399361	8e-04	0	5008	,	,		10522	0		0.001	False		,,,				2504	0					ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1192-1194)aCg>aTg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3		G	MET/THR	1,4391		0,1,2195	25	25	25		1193	4.3	0.9	5		25	2,8588		0,2,4293	yes	missense	ARAP3	NM_022481.5	81	0,3,6488	AA,AG,GG		0.0233,0.0228,0.0231	probably-damaging	398/1545	141052393	3,12979	2196	4295	6491	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141052393G>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.1193C>T	5.37:g.141052393G>A	ENSP00000239440:p.Thr398Met		Somatic				ARAP3_ENST00000508305.1_Missense_Mutation_p.T320M|ARAP3_ENST00000513878.1_Missense_Mutation_p.T60M	p.T398M	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			8	1258	-			398			PH 2.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1193C>T	CCDS4266.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.05	2.717011	0.48622	2.28E-4	2.33E-4	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000513878;ENST00000504448	T;T;T;T	0.14640	2.49;3.18;3.03;2.7	4.35	4.35	0.52113	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.524808	0.21057	N	0.080884	T	0.17450	0.0419	N	0.22421	0.69	0.32816	D	0.502129	D;D;D	0.76494	0.998;0.999;0.998	P;P;P	0.60117	0.835;0.869;0.743	T	0.06643	-1.0815	10	0.34782	T	0.22	.	9.5746	0.39450	0.0995:0.0:0.9005:0.0	.	60;320;398	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	M	317;320;398;60;398	ENSP00000421826:T320M;ENSP00000239440:T398M;ENSP00000421468:T60M;ENSP00000421148:T398M	ENSP00000239440:T398M	T	-	2	0	ARAP3	141032577	0.998000	0.40836	0.931000	0.37212	0.810000	0.45777	2.841000	0.48223	2.247000	0.74100	0.462000	0.41574	ACG		0.672	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		15	12	0	0	0	1	0	15	12					A	141052393	G	A	141052393	3	1	26	1	0	0	0	0	1	0	0	0	840	1145	40	1	3545	1	ARAP3	5	141052393	Missense_Mutation	SNP	G	TCGA-N8-A4PL-01A-11D-A28R-08	576767	141052393	39862867	20	2600										
GM2A	2760	broad.mit.edu	37	chr5	150646988	150646988	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	cgtctgggctgcatcaagatCgctgcctctctaaagggcat	11	12	3	1			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr5:150646988C>T	ENST00000357164.3	+	4	883	c.558C>T	c.(556-558)atC>atT	p.I186I		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	186					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|learning or memory (GO:0007611)|lipid storage (GO:0019915)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	apical cortex (GO:0045179)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|mitochondrion (GO:0005739)	beta-N-acetylhexosaminidase activity (GO:0004563)|lipid transporter activity (GO:0005319)|phospholipase activator activity (GO:0016004)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATCAAGATCGCTGCCTCTC	0.557																																						ENST00000357164.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8						c.(556-558)atC>atT		GM2 ganglioside activator							96	91	93					5																	150646988		2203	4300	6503	SO:0001819	synonymous_variant	2760					lysosome|nucleolus	sphingolipid activator protein activity	g.chr5:150646988C>T		CCDS4313.1	5q33.1	2010-03-17	2004-05-20		ENSG00000196743	ENSG00000196743			4367	protein-coding gene	gene with protein product	"cerebroside sulfate activator protein", "sphingolipid activator protein 3"	613109	"GM2 ganglioside activator protein"			115863, 1915857	Standard	NM_000405		Approved	SAP-3	uc003ltr.4	P17900	OTTHUMG00000130124	ENST00000357164.3:c.558C>T	5.37:g.150646988C>T			Somatic					p.I186I	NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	WXS	Illumina GAIIx	Phase_I	P17900	SAP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	883	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	186					B2R699|D3DQH6|Q14426|Q14428|Q6LBL5	Silent	SNP	ENST00000357164.3	37	c.558C>T	CCDS4313.1																																																																																				0.557	GM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252432.1	NM_000405		8	34	0	0	0	1	0	8	34					T	150646988	C	T	150646988	2	4	26	1	0	0	0	0	0	0	0	1	6492	874	31	1		1	GM2A	5	150646988	Silent	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	9594595	150646988	30268272	21	2601										
GPLD1	2822	broad.mit.edu	37	chr6	24473848	24473848	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	aaatgtaaataaacagtaccAaaatcaccagccgaatgagc	6	9	1	1			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr6:24473848A>G	ENST00000230036.1	-	6	599	c.489T>C	c.(487-489)ttT>ttC	p.F163F	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	163					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AAACAGTACCAAAATCACCAG	0.353																																						ENST00000230036.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.e6+1		glycosylphosphatidylinositol specific phospholipase D1							68	67	68					6																	24473848		2203	4300	6503	SO:0001630	splice_region_variant	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24473848A>G	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.490+1T>C	6.37:g.24473848A>G			Somatic				GPLD1_ENST00000474784.1_5'UTR	p.F163_splice	NM_001503.3	NP_001494.2	WXS	Illumina GAIIx	Phase_I	P80108	PHLD_HUMAN			6	599	-			163					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Splice_Site	SNP	ENST00000230036.1	37	c.490_splice	CCDS4553.1																																																																																				0.353	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503	Silent	13	17	0	0	0	1	0	13	17					G	24473848	A	G	24473848	5	3	26	1	0	0	0	0	0	0	1	0	6622	144	5	4	2154	4	GPLD1	6	24473848	Splice_Site	SNP	A	TCGA-N8-A4PL-01A-11D-A28R-08		24473848	146641219	22	2602										
OR2W1	26692	broad.mit.edu	37	chr6	29012269	29012269	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	cgctggcttgcttttgacttCgttctcagcacagctttggc	10	12	1	1	rs144276666		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr6:29012269C>T	ENST00000377175.1	-	1	748	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T228T(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTTTTGACTTCGTTCTCAGCA	0.393																																						ENST00000377175.1																			1	Substitution - coding silent(1)	p.T228T(1)	skin(1)	endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						c.(682-684)acG>acA		olfactory receptor, family 2, subfamily W, member 1							140	137	138					6																	29012269		1511	2709	4220	SO:0001819	synonymous_variant	26692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29012269C>T	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"GPCR / Class A : Olfactory receptors"	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.684G>A	6.37:g.29012269C>T			Somatic					p.T228T	NM_030903.3	NP_112165.1	WXS	Illumina GAIIx	Phase_I	Q9Y3N9	OR2W1_HUMAN			1	748	-			228					B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Silent	SNP	ENST00000377175.1	37	c.684G>A	CCDS4656.1																																																																																				0.393	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			26	63	0	0	0	1	0	26	63					T	29012269	C	T	29012269	2	4	26	1	0	0	0	0	0	0	0	1	11041	871	31	1		1	OR2W1	6	29012269	Silent	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	4538421	29012269	142102798	23	2603										
DHX16	8449	broad.mit.edu	37	chr6	30639046	30639046	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	ttttctaccactgcctttcgTggtacctgtcagtagagggg	11	10	2	1			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr6:30639046T>C	ENST00000376442.3	-	2	408	c.213A>G	c.(211-213)ccA>ccG	p.P71P		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	71					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						CTGCCTTTCGTGGTACCTGTC	0.512																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(211-213)ccA>ccG		DEAH (Asp-Glu-Ala-His) box polypeptide 16							197	243	226					6																	30639046		1510	2707	4217	SO:0001819	synonymous_variant	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30639046T>C	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.213A>G	6.37:g.30639046T>C			Somatic					p.P71P	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	WXS	Illumina GAIIx	Phase_I	O60231	DHX16_HUMAN			2	408	-			71					O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	ENST00000376442.3	37	c.213A>G	CCDS4685.1																																																																																				0.512	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		8	243	0	0	0	1	0	8	243					C	30639046	T	C	30639046	2	2	26	1	0	0	0	0	0	0	0	1	4504	1683	59	4		4	DHX16	6	30639046	Silent	SNP	T	TCGA-N8-A4PL-01A-11D-A28R-08	1626777	30639046	140476021	24	2604										
CUL9	23113	broad.mit.edu	37	chr6	43164458	43164458	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	caccacactctgggagaccaGattataacccaagagctgag	9	12	1	4			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr6:43164458G>T	ENST00000252050.4	+	11	2745	c.2661G>T	c.(2659-2661)caG>caT	p.Q887H	CUL9_ENST00000372647.2_Missense_Mutation_p.Q887H|CUL9_ENST00000354495.3_Missense_Mutation_p.Q777H	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	887					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						TGGGAGACCAGATTATAACCC	0.517																																						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.(2659-2661)caG>caT		cullin 9							199	178	185					6																	43164458		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.chr6:43164458G>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2661G>T	6.37:g.43164458G>T	ENSP00000252050:p.Gln887His		Somatic				CUL9_ENST00000372647.2_Missense_Mutation_p.Q887H|CUL9_ENST00000354495.3_Missense_Mutation_p.Q777H	p.Q887H	NM_015089.2	NP_055904.1	WXS	Illumina GAIIx	Phase_I	Q8IWT3	CUL9_HUMAN			11	2745	+			887					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.2661G>T	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383816	0.42308	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.78126	-1.15;-1.15;-1.07	5.61	3.56	0.40772	Armadillo-type fold (1);	0.060739	0.64402	N	0.000003	T	0.52645	0.1747	L	0.46157	1.445	0.40296	D	0.978553	B;B;B	0.20671	0.047;0.001;0.001	B;B;B	0.19946	0.027;0.001;0.001	T	0.59679	-0.7409	10	0.62326	D	0.03	-3.9384	3.9431	0.09336	0.1358:0.0:0.6262:0.238	.	777;887;887	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	H	887;777;887	ENSP00000252050:Q887H;ENSP00000346490:Q777H;ENSP00000361730:Q887H	ENSP00000252050:Q887H	Q	+	3	2	CUL9	43272436	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.042000	0.41222	1.370000	0.46153	0.655000	0.94253	CAG		0.517	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		4	99	1	0	0.150653	1	0.150653	4	99					T	43164458	G	T	43164458	3	4	26	1	0	0	0	0	1	0	0	0	4063	933	33	2	2699	2	CUL9	6	43164458	Missense_Mutation	SNP	G	TCGA-N8-A4PL-01A-11D-A28R-08	12525412	43164458	127950609	25	2605										
AARS2	57505	broad.mit.edu	37	chr6	44272877	44272877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	ggcgctgcagctccccaagcGcatggacatcaagccacaat	10	15	1	0			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr6:44272877G>A	ENST00000244571.4	-	11	1495	c.1493C>T	c.(1492-1494)gCg>gTg	p.A498V	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTCCCCAAGCGCATGGACATC	0.607											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(1492-1494)gCg>gTg		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						93	79	84					6																	44272877		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44272877G>A	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1493C>T	6.37:g.44272877G>A	ENSP00000244571:p.Ala498Val		Somatic	OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	TMEM151B_ENST00000438774.2_Intron	p.A498V	NM_020745.3	NP_065796.1	WXS	Illumina GAIIx	Phase_I	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	1495	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		498						Missense_Mutation	SNP	ENST00000244571.4	37	c.1493C>T	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451372	0.43531	.	.	ENSG00000124608	ENST00000244571	T	0.72942	-0.7	5.01	5.01	0.66863	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.303789	0.35555	N	0.003127	T	0.52725	0.1752	L	0.34521	1.04	0.32636	N	0.521373	P	0.46912	0.886	B	0.41412	0.356	T	0.62530	-0.6835	10	0.62326	D	0.03	-23.862	18.3304	0.90267	0.0:0.0:1.0:0.0	.	498	Q5JTZ9	SYAM_HUMAN	V	498	ENSP00000244571:A498V	ENSP00000244571:A498V	A	-	2	0	AARS2	44380855	0.938000	0.31826	0.197000	0.23402	0.193000	0.23685	3.770000	0.55310	2.329000	0.79093	0.609000	0.83330	GCG		0.607	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		25	71	0	0	0	1	0	25	71					A	44272877	G	A	44272877	3	1	26	1	0	0	0	0	1	0	0	0	20	1087	38	1	1512	1	AARS2	6	44272877	Missense_Mutation	SNP	G	TCGA-N8-A4PL-01A-11D-A28R-08	1108419	44272877	126842190	26	2606										
HUS1	3364	broad.mit.edu	37	chr7	48016344	48016344	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	tacatcaggatctgggaccaCcggttcttgtaagtccttcc	9	12	3	0			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr7:48016344C>A	ENST00000258774.5	-	4	471	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L	HUS1_ENST00000432325.1_Missense_Mutation_p.V129L	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	150					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				TCTGGGACCACCGGTTCTTGT	0.458								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)	ENST00000258774.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13						c.(448-450)Gtg>Ttg	Direct reversal of damage;Other conserved DNA damage response genes	HUS1 checkpoint homolog (S. pombe)							188	172	177					7																	48016344		2203	4300	6503	SO:0001583	missense	3364				DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding	g.chr7:48016344C>A	Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"hus1+-like protein"	603760	"HUS1 (S. pombe) checkpoint homolog"			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.448G>T	7.37:g.48016344C>A	ENSP00000258774:p.Val150Leu		Somatic				HUS1_ENST00000432325.1_Missense_Mutation_p.V129L	p.V150L	NM_004507.3	NP_004498.1	WXS	Illumina GAIIx	Phase_I	O60921	HUS1_HUMAN			4	471	-		Breast(660;0.00139)	150					B4DFI9	Missense_Mutation	SNP	ENST00000258774.5	37	c.448G>T	CCDS34635.1	.	.	.	.	.	.	.	.	.	.	C	9.430	1.085202	0.20390	.	.	ENSG00000136273	ENST00000258774;ENST00000432325;ENST00000432627;ENST00000446009	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.03	-3.0	0.05480	.	0.813112	0.11078	N	0.602118	T	0.05868	0.0153	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.39078	-0.9631	10	0.27785	T	0.31	-9.1903	6.2572	0.20879	0.1437:0.1815:0.0:0.6748	.	150	O60921	HUS1_HUMAN	L	150;129;129;129	ENSP00000258774:V150L;ENSP00000416588:V129L;ENSP00000404855:V129L;ENSP00000398806:V129L	ENSP00000258774:V150L	V	-	1	0	HUS1	47982869	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.354000	0.20146	-0.717000	0.04955	-0.254000	0.11334	GTG		0.458	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507		24	50	1	0	8.24728e-16	1	9.1511e-16	24	50					A	48016344	C	A	48016344	3	1	26	1	0	0	0	0	1	0	0	0	7468	507	18	5	414	5	HUS1	7	48016344	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08		48016344	111122319	27	2607										
FKBP6	8468	broad.mit.edu	37	chr7	72744195	72744195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	gctgggccttctgagcatgcGgagaggagagctggccaggt	18	9	1	3	rs3950376		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr7:72744195G>A	ENST00000252037.4	+	4	377	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q|TRIM50_ENST00000333149.2_5'Flank|FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q|TRIM50_ENST00000493498.1_5'Flank	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	103	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.			R -> Q (in Ref. 2; AAP97324). {ECO:0000305}.	cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R103Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGAGCATGCGGAGAGGAGAG	0.537																																						ENST00000252037.4																			1	Substitution - Missense(1)	p.R103Q(1)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16						c.(307-309)cGg>cAg		FK506 binding protein 6, 36kDa							131	112	118					7																	72744195		2203	4300	6503	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72744195G>A	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"FK506 binding protein 6 (36kD)", "peptidylprolyl cis-trans isomerase", "rotamase", "immunophilin FKBP36"	604839	"FK506-binding protein 6 (36kD)"			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.308G>A	7.37:g.72744195G>A	ENSP00000252037:p.Arg103Gln		Somatic				FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q|FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q	p.R103Q	NM_003602.3	NP_003593.3	WXS	Illumina GAIIx	Phase_I	O75344	FKBP6_HUMAN			4	377	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	103			PPIase FKBP-type.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.308G>A	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538247	0.45176	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	4.52	4.52	0.55395	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.229081	0.39985	N	0.001216	T	0.64702	0.2622	N	0.12502	0.225	0.36640	D	0.876817	B;B	0.33073	0.396;0.023	B;B	0.16289	0.009;0.015	T	0.66512	-0.5905	10	0.19147	T	0.46	-20.1574	7.1478	0.25593	0.1919:0.0:0.8081:0.0	rs3950376	98;103	O75344-2;O75344	.;FKBP6_HUMAN	Q	98;98;73;103	ENSP00000416277:R98Q;ENSP00000402360:R98Q;ENSP00000394952:R73Q;ENSP00000252037:R103Q	ENSP00000252037:R103Q	R	+	2	0	FKBP6	72382131	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.794000	0.47853	2.101000	0.63845	0.485000	0.47835	CGG		0.537	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		3	27	0	0	0	1	0	3	27					A	72744195	G	A	72744195	3	1	26	1	0	0	0	0	1	0	0	0	5920	1116	39	1	368	1	FKBP6	7	72744195	Missense_Mutation	SNP	G	TCGA-N8-A4PL-01A-11D-A28R-08	24727851	72744195	86394468	28	2608										
SLCO5A1	81796	broad.mit.edu	37	chr8	70744166	70744166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	agtccttcggacaggccggaGgctccaaagtggcggtggag	17	10	0	0			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr8:70744166G>A	ENST00000260126.4	-	2	1449	c.743C>T	c.(742-744)cCt>cTt	p.P248L	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P248L|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P248L|RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	248						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)			ACAGGCCGGAGGCTCCAAAGT	0.572																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(742-744)cCt>cTt		solute carrier organic anion transporter family, member 5A1							48	54	52					8																	70744166		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744166G>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.743C>T	8.37:g.70744166G>A	ENSP00000260126:p.Pro248Leu		Somatic				SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P248L|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P248L	p.P248L	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	1449	-	Breast(64;0.0654)		248					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.743C>T	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	G	9.704	1.155308	0.21454	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.40476	1.03;1.03;1.03	5.61	5.61	0.85477	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	11.650000	0.01656	N	0.024855	T	0.41003	0.1140	N	0.21240	0.645	0.21220	N	0.999757	B;B;B;B	0.32365	0.367;0.171;0.367;0.317	B;B;B;B	0.33568	0.166;0.035;0.119;0.104	T	0.52578	-0.8557	10	0.17832	T	0.49	.	19.6355	0.95731	0.0:0.0:1.0:0.0	.	248;248;248;248	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	L	248	ENSP00000260126:P248L;ENSP00000434422:P248L;ENSP00000431611:P248L	ENSP00000260126:P248L	P	-	2	0	SLCO5A1	70906720	0.998000	0.40836	0.547000	0.28179	0.293000	0.27360	5.921000	0.70028	2.646000	0.89796	0.561000	0.74099	CCT		0.572	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		29	15	0	0	0	1	0	29	15					A	70744166	G	A	70744166	3	1	26	1	0	0	0	0	1	0	0	0	14746	1000	35	3	1839	3	SLCO5A1	8	70744166	Missense_Mutation	SNP	G	TCGA-N8-A4PL-01A-11D-A28R-08		70744166	75619856	29	2609										
SLC26A7	115111	broad.mit.edu	37	chr8	92346559	92346559	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	ttgaaaacatcaagtctgtgCgactggaagcattgctttta	9	7	2	1	rs200934477		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr8:92346559C>A	ENST00000276609.3	+	6	918	c.679C>A	c.(679-681)Cga>Aga	p.R227R	SLC26A7_ENST00000523719.1_Silent_p.R227R|SLC26A7_ENST00000309536.2_Silent_p.R227R	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAAGTCTGTGCGACTGGAAGC	0.328													C|||	1	0.000199681	0	0	5008	,	,		18693	0		0.001	False		,,,				2504	0					ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(679-681)Cga>Aga		solute carrier family 26 (anion exchanger), member 7							155	145	148					8																	92346559		2202	4300	6502	SO:0001819	synonymous_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92346559C>A	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.679C>A	8.37:g.92346559C>A			Somatic				SLC26A7_ENST00000523719.1_Silent_p.R227R|SLC26A7_ENST00000309536.2_Silent_p.R227R	p.R227R	NM_052832.2	NP_439897.1	WXS	Illumina GAIIx	Phase_I	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		6	918	+			227						Silent	SNP	ENST00000276609.3	37	c.679C>A	CCDS6254.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	5.329	0.246038	0.10077	.	.	ENSG00000147606	ENST00000520818	.	.	.	5.58	2.74	0.32292	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6212	0.68584	0.5057:0.4943:0.0:0.0	.	.	.	.	X	94	.	.	C	+	3	2	SLC26A7	92415735	0.001000	0.12720	0.037000	0.18230	0.976000	0.68499	0.857000	0.27831	0.358000	0.24211	-0.152000	0.13540	TGC		0.328	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			7	22	1	0	0.000274275	1	0.000288523	7	22					A	92346559	C	A	92346559	2	1	26	1	0	0	0	0	0	0	0	1	14537	760	27	5		5	SLC26A7	8	92346559	Silent	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	21602393	92346559	54017463	30	2610										
GEM	2669	broad.mit.edu	37	chr8	95262747	95262747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	gccctcaaacagctccttcaCgttgtgctggacagctgcag	10	14	2	0	rs370285889		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr8:95262747C>T	ENST00000297596.2	-	5	946	c.682G>A	c.(682-684)Gtg>Atg	p.V228M	GEM_ENST00000396194.2_Missense_Mutation_p.V228M	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	228					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			AGCTCCTTCACGTTGTGCTGG	0.562																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	ENST00000297596.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(682-684)Gtg>Atg		GTP binding protein overexpressed in skeletal muscle		C	MET/VAL,MET/VAL	0,4406		0,0,2203	62	56	58		682,682	5.6	1	8		58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GEM	NM_005261.3,NM_181702.2	21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	228/297,228/297	95262747	1,13005	2203	4300	6503	SO:0001583	missense	2669				cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	g.chr8:95262747C>T		CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"kinase-inducible Ras-like protein"	600164	"GTP-binding protein overexpressed in skeletal muscle"			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.682G>A	8.37:g.95262747C>T	ENSP00000297596:p.Val228Met		Somatic				GEM_ENST00000396194.2_Missense_Mutation_p.V228M	p.V228M	NM_005261.3	NP_005252.1	WXS	Illumina GAIIx	Phase_I	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		5	946	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	228					B2RA31	Missense_Mutation	SNP	ENST00000297596.2	37	c.682G>A	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868896	0.51588	0.0	1.16E-4	ENSG00000164949	ENST00000396194;ENST00000297596	D;D	0.82344	-1.6;-1.6	5.6	5.6	0.85130	Small GTP-binding protein domain (1);	0.058600	0.64402	D	0.000002	D	0.95595	0.8568	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97136	0.9821	10	0.87932	D	0	.	19.9659	0.97266	0.0:1.0:0.0:0.0	.	228	P55040	GEM_HUMAN	M	228	ENSP00000379497:V228M;ENSP00000297596:V228M	ENSP00000297596:V228M	V	-	1	0	GEM	95331923	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	5.730000	0.68546	2.802000	0.96397	0.650000	0.86243	GTG		0.562	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702		8	36	0	0	0	1	0	8	36					T	95262747	C	T	95262747	3	4	26	1	0	0	0	0	1	0	0	0	6337	536	19	1	212	1	GEM	8	95262747	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	2916188	95262747	51101275	31	2611										
DENND3	22898	broad.mit.edu	37	chr8	142175305	142175305	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	gtcttagacacctacatgttCcattcttttcttaaagcccg	5	12	3	1			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr8:142175305C>T	ENST00000262585.2	+	11	1508	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	DENND3_ENST00000519811.1_Silent_p.F490F|DENND3_ENST00000424248.1_Silent_p.F358F	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	410	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				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)			CCTACATGTTCCATTCTTTTC	0.567																																						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.(1468-1470)ttC>ttT		DENN/MADD domain containing 3							166	164	165					8																	142175305		2203	4300	6503	SO:0001819	synonymous_variant	22898							g.chr8:142175305C>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1230C>T	8.37:g.142175305C>T			Somatic				DENND3_ENST00000262585.2_Silent_p.F410F|DENND3_ENST00000424248.1_Silent_p.F358F	p.F490F			WXS	Illumina GAIIx	Phase_I	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		11	1540	+	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)		410					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	c.1470C>T	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	8.447	0.852204	0.17106	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.42	0.127	0.14727	.	.	.	.	.	T	0.57548	0.2061	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52155	-0.8613	4	.	.	.	-23.4166	9.9694	0.41745	0.0:0.4647:0.0:0.5353	.	.	.	.	S	415	.	.	P	+	1	0	DENND3	142244487	0.993000	0.37304	0.987000	0.45799	0.726000	0.41606	0.247000	0.18179	0.103000	0.17682	-0.367000	0.07326	CCA		0.567	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		44	51	0	0	0	1	0	44	51					T	142175305	C	T	142175305	2	4	26	1	0	0	0	0	0	0	0	1	4434	854	30	3		3	DENND3	8	142175305	Silent	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	46912558	142175305	4188717	32	2612										
ADAMTSL1	92949	broad.mit.edu	37	chr9	18635979	18635979	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	caattccctatggaagtagaCatattcgccttgtcttaaaa	6	9	1	1			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr9:18635979C>A	ENST00000380548.4	+	6	979	c.640C>A	c.(640-642)Cat>Aat	p.H214N	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.H214N|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.H214N|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.H214N	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	214						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)		TGGAAGTAGACATATTCGCCT	0.348																																						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.(640-642)Cat>Aat		ADAMTS-like 1							238	221	227					9																	18635979		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18635979C>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.640C>A	9.37:g.18635979C>A	ENSP00000369921:p.His214Asn		Somatic				ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.H214N|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.H214N|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.H214N	p.H214N	NM_001040272.5	NP_001035362.3	WXS	Illumina GAIIx	Phase_I	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	6	979	+			214					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.640C>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285885	0.59867	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	T;T;T;T	0.61158	0.13;0.73;0.73;0.73	6.08	6.08	0.98989	.	.	.	.	.	T	0.39036	0.1063	N	0.13235	0.315	0.80722	D	1	P;B	0.38922	0.651;0.008	B;B	0.30401	0.115;0.02	T	0.30327	-0.9982	9	0.12103	T	0.63	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	214;214	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	N	214	ENSP00000369921:H214N;ENSP00000327887:H214N;ENSP00000369940:H214N;ENSP00000276935:H214N	ENSP00000276935:H214N	H	+	1	0	ADAMTSL1	18625979	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	5.099000	0.64554	2.894000	0.99253	0.655000	0.94253	CAT		0.348	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			28	20	1	0	1.32181e-22	1	1.48704e-22	28	20					A	18635979	C	A	18635979	3	1	26	1	0	0	0	0	1	0	0	0	274	478	17	5	662	5	ADAMTSL1	9	18635979	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08		18635979	122577452	33	2613										
DNLZ	728489	broad.mit.edu	37	chr9	139257510	139257510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	ggtggttctggcagccggggCaggtcacaatgaccacgcct	15	12	2	1			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr9:139257510C>T	ENST00000371738.3	-	2	373	c.299G>A	c.(298-300)tGc>tAc	p.C100Y	DNLZ_ENST00000371739.3_Intron|CARD9_ENST00000460290.1_5'Flank	NM_001080849.1	NP_001074318.1	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	100						mitochondrion (GO:0005739)	zinc ion binding (GO:0008270)			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		GCAGCCGGGGCAGGTCACAAT	0.617																																						ENST00000371738.3																			0				central_nervous_system(1)|prostate(1)	2						c.(298-300)tGc>tAc		DNL-type zinc finger							128	109	115					9																	139257510		2203	4300	6503	SO:0001583	missense	728489						metal ion binding	g.chr9:139257510C>T	AL592301	CCDS35179.1	9q34.3	2013-01-10	2007-12-18	2007-12-18	ENSG00000213221	ENSG00000213221		"Zinc fingers"	33879	protein-coding gene	gene with protein product	"translocase of inner mitochondrial membrane 15 homolog (yeast)", "HSP70 escort protein"		"chromosome 9 open reading frame 151"	C9orf151		21530495, 22162012	Standard	NM_001080849		Approved	RP11-413M3.2, ZIM17, bA413M3.2, TIMM15, HEP	uc004chf.2	Q5SXM8	OTTHUMG00000020931	ENST00000371738.3:c.299G>A	9.37:g.139257510C>T	ENSP00000360803:p.Cys100Tyr		Somatic				DNLZ_ENST00000371739.3_Intron	p.C100Y	NM_001080849.1	NP_001074318.1	WXS	Illumina GAIIx	Phase_I	Q5SXM8	DNLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)	2	373	-		Myeloproliferative disorder(178;0.0821)	100					B2RUX5|B9EJE1	Missense_Mutation	SNP	ENST00000371738.3	37	c.299G>A	CCDS35179.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258733	0.59321	.	.	ENSG00000213221	ENST00000371738	T	0.73789	-0.78	5.06	4.15	0.48705	Zinc finger, DNL-type (2);	0.000000	0.85682	U	0.000000	D	0.90769	0.7102	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93651	0.6973	10	0.87932	D	0	-19.0794	14.6504	0.68792	0.0:0.8537:0.1463:0.0	.	100	Q5SXM8	DNLZ_HUMAN	Y	100	ENSP00000360803:C100Y	ENSP00000360803:C100Y	C	-	2	0	DNLZ	138377331	1.000000	0.71417	0.965000	0.40720	0.214000	0.24535	7.353000	0.79414	1.113000	0.41760	0.462000	0.41574	TGC		0.617	DNLZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055075.2	NM_001080849		32	56	0	0	0	1	0	32	56					T	139257510	C	T	139257510	3	4	26	1	0	0	0	0	1	0	0	0	4671	710	25	3	245	3	DNLZ	9	139257510	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	120621531	139257510	1955921	34	2614										
KIF11	3832	broad.mit.edu	37	chr10	94369210	94369210	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	gatgaagtctatcaaattttAgaaaagggggcagcaaaaag	11	4	2	2			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr10:94369210A>C	ENST00000260731.3	+	6	732	c.642A>C	c.(640-642)ttA>ttC	p.L214F		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	214	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCAAATTTTAGAAAAGGGGG	0.373																																					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.(640-642)ttA>ttC		kinesin family member 11							203	226	218					10																	94369210		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.chr10:94369210A>C	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"Kinesins"	6388	protein-coding gene	gene with protein product		148760	"kinesin-like 1"	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.642A>C	10.37:g.94369210A>C	ENSP00000260731:p.Leu214Phe		Somatic					p.L214F	NM_004523.3	NP_004514.2	WXS	Illumina GAIIx	Phase_I	P52732	KIF11_HUMAN			6	732	+			214			Kinesin-motor.		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.642A>C	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713105	0.68730	.	.	ENSG00000138160	ENST00000260731	T	0.80909	-1.43	5.54	1.6	0.23607	Kinesin, motor domain (4);	0.000000	0.64402	D	0.000001	D	0.86961	0.6059	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85176	0.1001	10	0.87932	D	0	.	9.2024	0.37268	0.3652:0.0:0.6348:0.0	.	214	P52732	KIF11_HUMAN	F	214	ENSP00000260731:L214F	ENSP00000260731:L214F	L	+	3	2	KIF11	94359190	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.240000	0.32731	0.131000	0.18576	-0.248000	0.11899	TTA		0.373	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		16	185	0	0	0	1	0	16	185					C	94369210	A	C	94369210	3	2	26	1	0	0	0	0	1	0	0	0	8281	417	15	4	664	4	KIF11	10	94369210	Missense_Mutation	SNP	A	TCGA-N8-A4PL-01A-11D-A28R-08		94369210	41165537	35	2615										
FAM160A2	84067	broad.mit.edu	37	chr11	6236077	6236077	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	accagccccgtcagcaggaaGttgacatagacggagttctg	12	11	2	2			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:6236077G>T	ENST00000449352.2	-	10	2543	c.2280C>A	c.(2278-2280)aaC>aaA	p.N760K	FAM160A2_ENST00000265978.4_Missense_Mutation_p.N774K|FAM160A2_ENST00000529360.1_5'UTR			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	760					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCAGCAGGAAGTTGACATAGA	0.597																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2320-2322)aaC>aaA		family with sequence similarity 160, member A2							56	46	49					11																	6236077		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6236077G>T		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2280C>A	11.37:g.6236077G>T	ENSP00000416918:p.Asn760Lys		Somatic				FAM160A2_ENST00000449352.2_Missense_Mutation_p.N760K|FAM160A2_ENST00000529360.1_5'UTR	p.N774K	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	WXS	Illumina GAIIx	Phase_I	Q8N612	F16A2_HUMAN			10	2680	-			760					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.2322C>A	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	g	23.3	4.402590	0.83230	.	.	ENSG00000051009	ENST00000449352;ENST00000265978	T;T	0.33438	1.47;1.41	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.80847	2.515	0.80722	D	1	D;D	0.64830	0.989;0.994	P;P	0.60345	0.749;0.873	T	0.62765	-0.6785	10	0.87932	D	0	-9.9884	16.8551	0.86004	0.0:0.0:1.0:0.0	.	760;774	Q8N612;Q8N612-2	F16A2_HUMAN;.	K	760;774	ENSP00000416918:N760K;ENSP00000265978:N774K	ENSP00000265978:N774K	N	-	3	2	FAM160A2	6192653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.586000	0.82596	2.462000	0.83206	0.550000	0.68814	AAC		0.597	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		21	1	1	0	1.50039e-11	1	1.64232e-11	21	1					T	6236077	G	T	6236077	3	4	26	1	0	0	0	0	1	0	0	0	5474	1020	36	5	650	5	FAM160A2	11	6236077	Missense_Mutation	SNP	G	TCGA-N8-A4PL-01A-11D-A28R-08		6236077	128770439	36	2616										
ARNTL	406	broad.mit.edu	37	chr11	13393792	13393792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	aagatggggctggatgaagaCaacgaaccagacaatgaggg	15	6	0	5			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:13393792C>T	ENST00000403290.1	+	13	1258	c.903C>T	c.(901-903)gaC>gaT	p.D301D	ARNTL_ENST00000403482.3_Silent_p.D299D|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000389708.3_Silent_p.D301D|ARNTL_ENST00000401424.1_Silent_p.D258D|ARNTL_ENST00000361003.4_Intron|ARNTL_ENST00000396441.3_Silent_p.D300D|ARNTL_ENST00000403510.3_Silent_p.D257D|ARNTL_ENST00000389707.4_Silent_p.D300D			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	301					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|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)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|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)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TGGATGAAGACAACGAACCAG	0.498																																						ENST00000389708.3																			0				breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20						c.(901-903)gaC>gaT		aryl hydrocarbon receptor nuclear translocator-like							100	87	91					11																	13393792		2200	4294	6494	SO:0001819	synonymous_variant	406				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr11:13393792C>T	D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"Basic helix-loop-helix proteins"	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.903C>T	11.37:g.13393792C>T			Somatic				ARNTL_ENST00000401424.1_Silent_p.D258D|ARNTL_ENST00000396441.3_Silent_p.D300D|ARNTL_ENST00000403290.1_Silent_p.D301D|ARNTL_ENST00000403482.3_Silent_p.D299D|ARNTL_ENST00000361003.4_Intron|ARNTL_ENST00000403510.3_Silent_p.D257D|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000389707.4_Silent_p.D300D	p.D301D			WXS	Illumina GAIIx	Phase_I	O00327	BMAL1_HUMAN		Epithelial(150;0.0243)	13	1258	+			301					A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Silent	SNP	ENST00000403290.1	37	c.903C>T																																																																																					0.498	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178		35	2	0	0	0	1	0	35	2					T	13393792	C	T	13393792	2	4	26	1	0	0	0	0	0	0	0	1	967	477	17	3		3	ARNTL	11	13393792	Silent	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	7157715	13393792	121612724	37	2617										
TSG101	7251	broad.mit.edu	37	chr11	18503375	18503375	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	agagcagaactgagttcttcAtccttctttttcaaaagttc	6	9	4	3			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:18503375A>T	ENST00000251968.3	-	9	1300	c.885T>A	c.(883-885)gaT>gaA	p.D295E	TSG101_ENST00000536719.1_Missense_Mutation_p.D295E|TSG101_ENST00000357193.3_Missense_Mutation_p.D190E	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	295					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						TGAGTTCTTCATCCTTCTTTT	0.363																																					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.(883-885)gaT>gaA		tumor susceptibility 101							116	115	115					11																	18503375		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18503375A>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.885T>A	11.37:g.18503375A>T	ENSP00000251968:p.Asp295Glu		Somatic				TSG101_ENST00000251968.3_Missense_Mutation_p.D295E|TSG101_ENST00000357193.3_Missense_Mutation_p.D190E	p.D295E			WXS	Illumina GAIIx	Phase_I	Q99816	TS101_HUMAN			9	1019	-			295					Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.885T>A	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	A	4.988	0.183522	0.09495	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.20200	2.09;2.09;2.09	5.97	2.47	0.30058	.	0.000000	0.85682	D	0.000000	T	0.11410	0.0278	L	0.31157	0.91	0.44685	D	0.997674	B	0.06786	0.001	B	0.06405	0.002	T	0.18085	-1.0348	10	0.02654	T	1	-6.8777	8.9239	0.35628	0.7218:0.0:0.2781:0.0	.	295	Q99816	TS101_HUMAN	E	295;295;190	ENSP00000438471:D295E;ENSP00000251968:D295E;ENSP00000349721:D190E	ENSP00000251968:D295E	D	-	3	2	TSG101	18459951	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.085000	0.30840	0.511000	0.28236	-0.250000	0.11733	GAT		0.363	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		10	8	0	0	0	1	0	10	8					T	18503375	A	T	18503375	3	4	26	1	0	0	0	0	1	0	0	0	16631	214	8	4	295	4	TSG101	11	18503375	Missense_Mutation	SNP	A	TCGA-N8-A4PL-01A-11D-A28R-08	5109583	18503375	116503141	38	2618										
OR5M8	219484	broad.mit.edu	37	chr11	56258788	56258788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	agaggagaatttgtaattccCggcgactggtcagtcccagg	13	9	1	2	rs574852072	byFrequency	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:56258788C>T	ENST00000327216.2	-	1	83	c.59G>A	c.(58-60)cGg>cAg	p.R20Q		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	20						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)					TTGTAATTCCCGGCGACTGGT	0.483													C|||	4	0.000798722	0	0.0014	5008	,	,		19178	0		0	False		,,,				2504	0.0031					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.(58-60)cGg>cAg		olfactory receptor, family 5, subfamily M, member 8							80	85	83					11																	56258788		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258788C>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.59G>A	11.37:g.56258788C>T	ENSP00000323354:p.Arg20Gln		Somatic					p.R20Q	NM_001005282.1	NP_001005282.1	WXS	Illumina GAIIx	Phase_I	Q8NGP6	OR5M8_HUMAN			1	83	-	Esophageal squamous(21;0.00352)		20					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.59G>A	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	C	8.855	0.945463	0.18356	.	.	ENSG00000181371	ENST00000327216	T	0.00433	7.43	4.13	-7.18	0.01505	.	1.292630	0.06259	U	0.693636	T	0.00144	0.0004	N	0.03154	-0.405	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.36915	-0.9728	10	0.39692	T	0.17	0.1659	3.5083	0.07699	0.209:0.2522:0.4222:0.1166	.	20	Q8NGP6	OR5M8_HUMAN	Q	20	ENSP00000323354:R20Q	ENSP00000323354:R20Q	R	-	2	0	OR5M8	56015364	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.691000	0.00198	-1.486000	0.01851	-1.292000	0.01352	CGG		0.483	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		58	5	0	0	0	1	0	58	5					T	56258788	C	T	56258788	3	4	26	1	0	0	0	0	1	0	0	0	11185	652	23	1	880	1	OR5M8	11	56258788	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	37755413	56258788	78747728	39	2619										
AHNAK	79026	broad.mit.edu	37	chr11	62300151	62300151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	accccctttcactttaggtgCggccacatttaagtctactt	6	13	2	0	rs138061218		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:62300151C>T	ENST00000378024.4	-	5	2012	c.1738G>A	c.(1738-1740)Gca>Aca	p.A580T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	580					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)				ACTTTAGGTGCGGCCACATTT	0.507													C|||	1	0.000199681	0	0	5008	,	,		18311	0		0.001	False		,,,				2504	0					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.(1738-1740)Gca>Aca		AHNAK nucleoprotein		C	THR/ALA,	0,4404		0,0,2202	68	70	69		1738,	3.7	0	11	dbSNP_134	69	1,8597	1.2+/-3.3	0,1,4298	no	missense,intron	AHNAK	NM_001620.1,NM_024060.2	58,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign,	580/5891,	62300151	1,13001	2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62300151C>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.1738G>A	11.37:g.62300151C>T	ENSP00000367263:p.Ala580Thr		Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.A580T	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	2012	-		Melanoma(852;0.155)	580					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.1738G>A	CCDS31584.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	2.021	-0.424712	0.04734	0.0	1.16E-4	ENSG00000124942	ENST00000378024	T	0.00737	5.76	5.52	3.65	0.41850	.	1.004800	0.08030	N	0.993358	T	0.01222	0.0040	L	0.52126	1.63	0.09310	N	1	B	0.18310	0.027	B	0.19666	0.026	T	0.53788	-0.8389	10	0.13470	T	0.59	-10.4798	12.4296	0.55567	0.0:0.8497:0.0:0.1503	.	580	Q09666	AHNK_HUMAN	T	580	ENSP00000367263:A580T	ENSP00000367263:A580T	A	-	1	0	AHNAK	62056727	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	0.876000	0.28092	0.309000	0.22966	-1.164000	0.01763	GCA		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		30	4	0	0	0	1	0	30	4					T	62300151	C	T	62300151	3	4	26	1	0	0	0	0	1	0	0	0	414	768	27	1	16054	1	AHNAK	11	62300151	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	6041363	62300151	72706365	40	2620										
B3GAT1	27087	broad.mit.edu	37	chr11	134253812	134253812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	gcagcaggcgcgcggtcagcGgcgtccggcgcggcgcatcc	18	16	1	0			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:134253812G>A	ENST00000524765.1	-	3	4927	c.383C>T	c.(382-384)cCg>cTg	p.P128L	B3GAT1_ENST00000392580.1_Missense_Mutation_p.P128L|B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000312527.4_Missense_Mutation_p.P128L|B3GAT1_ENST00000537389.1_Missense_Mutation_p.P141L			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	128					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)		CGCGGTCAGCGGCGTCCGGCG	0.716																																						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.(382-384)cCg>cTg		beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)							23	22	22					11																	134253812		2175	4210	6385	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134253812G>A	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.383C>T	11.37:g.134253812G>A	ENSP00000433847:p.Pro128Leu		Somatic				B3GAT1_ENST00000537389.1_Missense_Mutation_p.P141L|B3GAT1_ENST00000312527.4_Missense_Mutation_p.P128L|B3GAT1_ENST00000392580.1_Missense_Mutation_p.P128L	p.P128L			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	4927	-	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)	128					Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.383C>T	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188527	0.57909	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.39	1.38	0.22167	.	0.153660	0.64402	N	0.000012	T	0.47985	0.1475	L	0.36672	1.1	0.80722	D	1	B;B	0.17268	0.017;0.021	B;B	0.26202	0.064;0.067	T	0.29640	-1.0005	10	0.40728	T	0.16	-15.2404	6.9611	0.24597	0.2103:0.1263:0.6633:0.0	.	141;128	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	L	128;128;128;141	ENSP00000376359:P128L;ENSP00000307875:P128L;ENSP00000433847:P128L;ENSP00000445983:P141L	ENSP00000307875:P128L	P	-	2	0	B3GAT1	133759022	0.460000	0.25776	0.024000	0.17045	0.828000	0.46876	2.366000	0.44204	0.250000	0.21479	0.561000	0.74099	CCG		0.716	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		8	4	0	0	0	1	0	8	4					A	134253812	G	A	134253812	3	1	26	1	0	0	0	0	1	0	0	0	1253	1116	39	1	633	1	B3GAT1	11	134253812	Missense_Mutation	SNP	G	TCGA-N8-A4PL-01A-11D-A28R-08	71953661	134253812	752704	41	2621										
GAPDH	2597	broad.mit.edu	37	chr12	6646101	6646101	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	cataggcgagatccctccaaAatcaagtggggcgatgctgg	13	10	1	1			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:6646101A>C	ENST00000229239.5	+	5	918	c.252A>C	c.(250-252)aaA>aaC	p.K84N	GAPDH_ENST00000396856.1_Missense_Mutation_p.K9N|GAPDH_ENST00000396858.1_Missense_Mutation_p.K42N|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396861.1_Missense_Mutation_p.K84N|GAPDH_ENST00000396859.1_Missense_Mutation_p.K84N	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	84	Interaction with WARS.				carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						ATCCCTCCAAAATCAAGTGGG	0.607																																						ENST00000229239.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						c.(250-252)aaA>aaC		glyceraldehyde-3-phosphate dehydrogenase	NADH(DB00157)						109	120	116					12																	6646101		2203	4300	6503	SO:0001583	missense	2597				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	g.chr12:6646101A>C	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.252A>C	12.37:g.6646101A>C	ENSP00000229239:p.Lys84Asn		Somatic				GAPDH_ENST00000396858.1_Missense_Mutation_p.K42N|GAPDH_ENST00000396856.1_Missense_Mutation_p.K9N|GAPDH_ENST00000396859.1_Missense_Mutation_p.K84N|GAPDH_ENST00000396861.1_Missense_Mutation_p.K84N	p.K84N	NM_002046.4	NP_002037.2	WXS	Illumina GAIIx	Phase_I	P04406	G3P_HUMAN			5	918	+			84			Interaction with WARS.		E7EUT4|P00354|Q53X65	Missense_Mutation	SNP	ENST00000229239.5	37	c.252A>C	CCDS8549.1	.	.	.	.	.	.	.	.	.	.	A	6.319	0.426944	0.11987	.	.	ENSG00000111640	ENST00000229239;ENST00000450282;ENST00000396856;ENST00000396861;ENST00000396859;ENST00000396858	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	4.55	2.61	0.31194	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.166361	0.51477	N	0.000086	T	0.13756	0.0333	N	0.01410	-0.885	0.38711	D	0.953212	D;D;D;B;B	0.54207	0.965;0.965;0.965;0.0;0.0	P;P;P;B;B	0.49047	0.599;0.599;0.599;0.001;0.001	T	0.20874	-1.0262	10	0.02654	T	1	.	8.9296	0.35661	0.1615:0.7574:0.0:0.0811	.	42;59;84;9;84	E7EUT4;Q0QET7;Q2TSD0;E7EUT5;P04406	.;.;.;.;G3P_HUMAN	N	84;84;9;84;84;42	ENSP00000229239:K84N;ENSP00000380065:K9N;ENSP00000380070:K84N;ENSP00000380068:K84N;ENSP00000380067:K42N	ENSP00000229239:K84N	K	+	3	2	GAPDH	6516362	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.104000	0.50306	1.067000	0.40740	0.459000	0.35465	AAA		0.607	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046		148	161	0	0	0	1	0	148	161					C	6646101	A	C	6646101	3	2	26	1	0	0	0	0	1	0	0	0	6244	11	1	4	266	4	GAPDH	12	6646101	Missense_Mutation	SNP	A	TCGA-N8-A4PL-01A-11D-A28R-08		6646101	127205794	42	2622										
NOP2	4839	broad.mit.edu	37	chr12	6666174	6666174	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	accatctaagatagcagcagCtggctgttgcccctggactg	11	12	1	1			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:6666174C>G	ENST00000322166.5	-	16	2545	c.2424G>C	c.(2422-2424)caG>caC	p.Q808H	IFFO1_ENST00000396840.2_5'Flank|NOP2_ENST00000542015.1_5'Flank|NOP2_ENST00000382421.3_Missense_Mutation_p.Q841H|IFFO1_ENST00000356896.4_5'Flank|NOP2_ENST00000541778.1_Missense_Mutation_p.Q804H|NOP2_ENST00000545200.1_3'UTR|IFFO1_ENST00000336604.4_5'Flank|NOP2_ENST00000537442.1_Missense_Mutation_p.Q808H|NOP2_ENST00000399466.2_Missense_Mutation_p.Q804H	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	808					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ATAGCAGCAGCTGGCTGTTGC	0.567																																						ENST00000541778.1																			0				breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(2410-2412)caG>caC		NOP2 nucleolar protein							49	51	50					12																	6666174		1922	4133	6055	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6666174C>G		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"NOP2/Sun domain containing"	7867	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 1"	164031	"nucleolar protein 1 (120kD)", "nucleolar protein 1, 120kDa", "nucleolar protein 2 homolog (yeast)", "NOP2 nucleolar protein homolog (yeast)"	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.2424G>C	12.37:g.6666174C>G	ENSP00000313272:p.Gln808His		Somatic				NOP2_ENST00000399466.2_Missense_Mutation_p.Q804H|NOP2_ENST00000322166.5_Missense_Mutation_p.Q808H|NOP2_ENST00000537442.1_Missense_Mutation_p.Q808H|NOP2_ENST00000382421.3_Missense_Mutation_p.Q841H|NOP2_ENST00000545200.1_3'UTR	p.Q804H			WXS	Illumina GAIIx	Phase_I	P46087	NOP2_HUMAN			16	2900	-			808					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.2412G>C	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	C	9.210	1.030672	0.19512	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	4.0	2.12	0.27331	.	.	.	.	.	T	0.15869	0.0382	L	0.59436	1.845	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.10450	0.001;0.005	T	0.23797	-1.0178	9	0.41790	T	0.15	.	4.7279	0.12950	0.2308:0.6568:0.0:0.1123	.	808;804	P46087;P46087-2	NOP2_HUMAN;.	H	808;841;804;808;804	ENSP00000444437:Q808H;ENSP00000371858:Q841H;ENSP00000382392:Q804H;ENSP00000313272:Q808H;ENSP00000443150:Q804H	ENSP00000313272:Q808H	Q	-	3	2	NOP2	6536435	0.000000	0.05858	0.014000	0.15608	0.011000	0.07611	-0.421000	0.07053	0.611000	0.30052	0.561000	0.74099	CAG		0.567	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		37	35	0	0	0	1	0	37	35					G	6666174	C	G	6666174	3	3	26	1	0	0	0	0	1	0	0	0	10547	796	28	5	18	5	NOP2	12	6666174	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	20073	6666174	127185721	43	2623										
PTPN6	5777	broad.mit.edu	37	chr12	7064144	7064145	+	In_Frame_Ins	INS	-	-	GGTCAT													0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	ctcagggtcacccacatcaaINSggtcatgtgcgaggtaaggc							TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:7064144_7064145insGGTCAT	ENST00000318974.9	+	4	747_748	c.503_504insGGTCAT	c.(502-507)aaggtc>aaGGTCATggtc	p.169_170insMV	PTPN6_ENST00000456013.1_In_Frame_Ins_p.169_170insMV|PTPN6_ENST00000399448.1_In_Frame_Ins_p.171_172insMV|PTPN6_ENST00000447931.2_In_Frame_Ins_p.130_131insMV	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	169	SH2 2. {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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ACCCACATCAAGGTCATGTGCG	0.653																																						ENST00000456013.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(502-504)agt>aGGTCATgt		protein tyrosine phosphatase, non-receptor type 6																																				SO:0001652	inframe_insertion	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.chr12:7064144_7064145insGGTCAT		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.504_509dupGGTCAT	12.37:g.7064145_7064150dupGGTCAT	ENSP00000326010:p.Val169_Met170insMetVal		Somatic				PTPN6_ENST00000447931.2_In_Frame_Ins_p.129_129S>RSC|PTPN6_ENST00000399448.1_In_Frame_Ins_p.170_170S>RSC|PTPN6_ENST00000318974.9_In_Frame_Ins_p.168_168S>RSC	p.168_168S>RSC	NM_080549.3	NP_536859.1	WXS	Illumina GAIIx	Phase_I	P29350	PTN6_HUMAN			4	745_746	+			168			SH2 2.		A8K306|G3V0F8|Q969V8|Q9UK67	In_Frame_Ins	INS	ENST00000318974.9	37	c.503_504insGGTCAT	CCDS44820.1																																																																																				0.653	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		41	77						41	77	---	---	---	---	GGTCAT	7064145	-	GGTCAT	7064144	7	5	26	1	0	1	1	0	0	0	0	0	12807	72	3	0	535	0	PTPN6	12	7064144	In_Frame_Ins	INS	-	TCGA-N8-A4PL-01A-11D-A28R-08	397970	7064144	126787751	44	2624										
AEBP2	121536	broad.mit.edu	37	chr12	19615449	19615449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	tttcttcttttgtagcataaGcagtactataatggatgtag	8	5	2	0			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:19615449G>A	ENST00000398864.3	+	2	703	c.677G>A	c.(676-678)aGc>aAc	p.S226N	AEBP2_ENST00000541908.1_5'UTR|AEBP2_ENST00000360995.4_Missense_Mutation_p.S10N|AEBP2_ENST00000266508.9_Missense_Mutation_p.S226N	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	226	Interaction with RBBP4.|Ser-rich.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					TGTAGCATAAGCAGTACTATA	0.333																																						ENST00000266508.9																			0				ovary(1)	1						c.(676-678)aGc>aAc		AE binding protein 2							49	43	45					12																	19615449		1862	4102	5964	SO:0001583	missense	121536				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding	g.chr12:19615449G>A		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.677G>A	12.37:g.19615449G>A	ENSP00000381840:p.Ser226Asn		Somatic				AEBP2_ENST00000541908.1_5'UTR|AEBP2_ENST00000360995.4_Missense_Mutation_p.S10N|AEBP2_ENST00000398864.3_Missense_Mutation_p.S226N	p.S226N	NM_153207.4	NP_694939.2	WXS	Illumina GAIIx	Phase_I	Q6ZN18	AEBP2_HUMAN			2	678	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)		226			Interaction with RBBP4.|Ser-rich.		Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP	ENST00000398864.3	37	c.677G>A	CCDS44841.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900116	0.52227	.	.	ENSG00000139154	ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995	D;D;T	0.91740	-2.9;-2.9;-0.32	5.55	5.55	0.83447	.	.	.	.	.	D	0.86707	0.5997	L	0.27053	0.805	0.53688	D	0.999972	B	0.29188	0.236	B	0.20767	0.031	T	0.82508	-0.0422	9	0.22706	T	0.39	-1.7625	19.6941	0.96016	0.0:0.0:1.0:0.0	.	226	Q6ZN18	AEBP2_HUMAN	N	226;160;226;10	ENSP00000381840:S226N;ENSP00000266508:S226N;ENSP00000354267:S10N	ENSP00000266508:S226N	S	+	2	0	AEBP2	19506716	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.409000	0.80053	2.885000	0.99019	0.655000	0.94253	AGC		0.333	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207		7	11	0	0	0	1	0	7	11					A	19615449	G	A	19615449	3	1	26	1	0	0	0	0	1	0	0	0	350	971	34	3	683	3	AEBP2	12	19615449	Missense_Mutation	SNP	G	TCGA-N8-A4PL-01A-11D-A28R-08	12551305	19615449	114236446	45	2625										
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:25398284C>G	ENST00000256078.4	-	2	98	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000311936.3_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gCt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>C	12.37:g.25398284C>G	ENSP00000256078:p.Gly12Ala	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic				KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A	p.G12A	NM_004985.3	NP_004976.2	WXS	Illumina GAIIx	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996285	0.93167	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.74546	2.27	0.80722	D	1	P;P	0.52842	0.898;0.956	P;P	0.55303	0.658;0.773	D	0.87064	0.2155	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	A	12	ENSP00000308495:G12A;ENSP00000452512:G12A;ENSP00000256078:G12A;ENSP00000451856:G12A	ENSP00000256078:G12A	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		9	1	0	0	0	1	0	9	1					G	25398284	C	G	25398284	3	3	26	1	0	0	0	0	1	0	0	0	8447	507	18	5	671	5	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	5782835	25398284	108453611	46	2626										
PCDH9	5101	broad.mit.edu	37	chr13	67802394	67802394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	ccagtctgtagacaaggctgGcgctggtccctgtggcagca	14	12	1	1			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr13:67802394G>A	ENST00000377865.2	-	1	313	c.179C>T	c.(178-180)gCc>gTc	p.A60V	PCDH9_ENST00000544246.1_Missense_Mutation_p.A60V|PCDH9_ENST00000377861.3_Missense_Mutation_p.A60V|PCDH9_ENST00000456367.1_Missense_Mutation_p.A60V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A60V			Q9HC56	PCDH9_HUMAN	protocadherin 9	60	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		GACAAGGCTGGCGCTGGTCCC	0.458																																						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.(178-180)gCc>gTc		protocadherin 9							78	77	77					13																	67802394		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802394G>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.179C>T	13.37:g.67802394G>A	ENSP00000367096:p.Ala60Val		Somatic				PCDH9_ENST00000456367.1_Missense_Mutation_p.A60V|PCDH9_ENST00000377861.3_Missense_Mutation_p.A60V|PCDH9_ENST00000377865.2_Missense_Mutation_p.A60V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A60V	p.A60V	NM_203487.2	NP_982354.1	WXS	Illumina GAIIx	Phase_I	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	870	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	60			Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.179C>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.602487	0.28534	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	5.82	5.82	0.92795	Cadherin, N-terminal (1);Cadherin (3);	0.207220	0.51477	D	0.000089	T	0.21022	0.0506	L	0.39245	1.2	0.41096	D	0.985637	B;B;B;B	0.20368	0.018;0.044;0.004;0.018	B;B;B;B	0.25987	0.027;0.039;0.023;0.065	T	0.02774	-1.1112	10	0.66056	D	0.02	.	20.1012	0.97876	0.0:0.0:1.0:0.0	.	60;60;60;60	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	V	60	ENSP00000442186:A60V;ENSP00000367096:A60V;ENSP00000401699:A60V;ENSP00000332060:A60V;ENSP00000367092:A60V	ENSP00000332060:A60V	A	-	2	0	PCDH9	66700395	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	5.659000	0.68010	2.754000	0.94517	0.650000	0.86243	GCC		0.458	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		18	51	0	0	0	1	0	18	51					A	67802394	G	A	67802394	3	1	26	1	0	0	0	0	1	0	0	0	11527	1203	42	3	3550	3	PCDH9	13	67802394	Missense_Mutation	SNP	G	TCGA-N8-A4PL-01A-11D-A28R-08		67802394	47367484	47	2627										
MYO16	23026	broad.mit.edu	37	chr13	109793236	109793236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	gcagccggaggggtcgagccCgctgtccccgcagtactcca	14	16	0	0			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr13:109793236C>T	ENST00000357550.2	+	31	4651	c.4610C>T	c.(4609-4611)cCg>cTg	p.P1537L	MYO16_ENST00000356711.2_Missense_Mutation_p.P1537L	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)			GGGTCGAGCCCGCTGTCCCCG	0.716																																						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.(4609-4611)cCg>cTg		myosin XVI							17	21	19					13																	109793236		2190	4288	6478	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.chr13:109793236C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.4610C>T	13.37:g.109793236C>T	ENSP00000350160:p.Pro1537Leu		Somatic				MYO16_ENST00000357550.2_Missense_Mutation_p.P1537L	p.P1537L	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)		32	4736	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1537			Pro-rich.			Missense_Mutation	SNP	ENST00000357550.2	37	c.4610C>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215180	0.58452	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.48836	0.8;0.8	4.8	4.8	0.61643	.	0.000000	0.40469	U	0.001095	T	0.66107	0.2756	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66333	-0.5950	9	.	.	.	.	16.8616	0.86020	0.0:1.0:0.0:0.0	.	1537	Q9Y6X6	MYO16_HUMAN	L	1537	ENSP00000349145:P1537L;ENSP00000350160:P1537L	.	P	+	2	0	MYO16	108591237	1.000000	0.71417	0.060000	0.19600	0.007000	0.05969	7.212000	0.77941	2.227000	0.72691	0.467000	0.42956	CCG		0.716	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		5	16	0	0	0	1	0	5	16					T	109793236	C	T	109793236	3	4	26	1	0	0	0	0	1	0	0	0	10073	652	23	1	4732	1	MYO16	13	109793236	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	41990842	109793236	5376642	48	2628										
OR4K2	390431	broad.mit.edu	37	chr14	20344723	20344723	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	tcttttgatggctgccttacCcagatattctttctccacct	5	13	3	2			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr14:20344723C>A	ENST00000298642.2	+	1	333	c.297C>A	c.(295-297)acC>acA	p.T99T		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	99						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)		GCTGCCTTACCCAGATATTCT	0.413																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(295-297)acC>acA		olfactory receptor, family 4, subfamily K, member 2							198	203	201					14																	20344723		2203	4300	6503	SO:0001819	synonymous_variant	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344723C>A		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.297C>A	14.37:g.20344723C>A			Somatic					p.T99T	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	333	+	all_cancers(95;0.00108)		99					B2RNK8|Q6IFA5	Silent	SNP	ENST00000298642.2	37	c.297C>A	CCDS32023.1																																																																																				0.413	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			6	152	1	0	3.59834e-05	1	3.83507e-05	6	152					A	20344723	C	A	20344723	2	1	26	1	0	0	0	0	0	0	0	1	11081	610	22	5		5	OR4K2	14	20344723	Silent	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08		20344723	87004817	49	2629										
TINF2	26277	broad.mit.edu	37	chr14	24709663	24709663	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	ggcaagtcaactgggttctcCttcagagcccttccccccag	9	16	3	1			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr14:24709663C>T	ENST00000267415.7	-	6	1364	c.1023G>A	c.(1021-1023)aaG>aaA	p.K341K	TINF2_ENST00000538777.1_Silent_p.K127K|TINF2_ENST00000540705.1_Silent_p.K306K|TINF2_ENST00000399423.4_Silent_p.K341K|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000558510.1_5'Flank	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	341					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CTGGGTTCTCCTTCAGAGCCC	0.532									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																													ENST00000399423.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7						c.(1021-1023)aaG>aaA		TERF1 (TRF1)-interacting nuclear factor 2							65	65	65					14																	24709663		1975	4163	6138	SO:0001819	synonymous_variant	26277	Congenital Dyskeratosis;Ataxia Pancytopenia syndrome	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding	g.chr14:24709663C>T	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.1023G>A	14.37:g.24709663C>T			Somatic				TINF2_ENST00000538777.1_Silent_p.K127K|TINF2_ENST00000540705.1_Silent_p.K306K|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000267415.7_Silent_p.K341K	p.K341K	NM_012461.2	NP_036593.2	WXS	Illumina GAIIx	Phase_I	Q9BSI4	TINF2_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	6	1353	-			341					B3W5Q7|Q9H904|Q9UHC2	Silent	SNP	ENST00000267415.7	37	c.1023G>A	CCDS41936.1																																																																																				0.532	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			16	14	0	0	0	1	0	16	14					T	24709663	C	T	24709663	2	4	26	1	0	0	0	0	0	0	0	1	15938	680	24	3		3	TINF2	14	24709663	Silent	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	4364940	24709663	82639877	50	2630										
PPL	5493	broad.mit.edu	37	chr16	4949275	4949275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	aggttgcggtcactccagtcGtactgcatgcggcccttggc	13	13	1	0	rs140083031		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr16:4949275G>A	ENST00000345988.2	-	7	806	c.717C>T	c.(715-717)taC>taT	p.Y239Y	PPL_ENST00000590782.2_Silent_p.Y237Y	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	239					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CACTCCAGTCGTACTGCATGC	0.657													G|||	1	0.000199681	8e-04	0	5008	,	,		15491	0		0	False		,,,				2504	0					ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(715-717)taC>taT		periplakin		G		4,4390	8.1+/-20.4	0,4,2193	56	45	49		717	-5.8	0.9	16	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous	PPL	NM_002705.4		0,4,6493	AA,AG,GG		0.0,0.091,0.0308		239/1757	4949275	4,12990	2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4949275G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.717C>T	16.37:g.4949275G>A			Somatic				PPL_ENST00000590782.2_Silent_p.Y237Y	p.Y239Y	NM_002705.4	NP_002696.3	WXS	Illumina GAIIx	Phase_I	O60437	PEPL_HUMAN			7	806	-			239					O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.717C>T	CCDS10526.1																																																																																				0.657	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		15	32	0	0	0	1	0	15	32					A	4949275	G	A	4949275	2	1	26	1	0	0	0	0	0	0	0	1	12346	1140	40	1		1	PPL	16	4949275	Silent	SNP	G	TCGA-N8-A4PL-01A-11D-A28R-08		4949275	85405478	51	2631										
ZFHX3	463	broad.mit.edu	37	chr16	72821810	72821810	+	Frame_Shift_Del	DEL	G	G	-													0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	tgcacctttggaacaatgaaGgggtcgtagagggagtccgc					rs370543300		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr16:72821810delG	ENST00000268489.5	-	10	11037	c.10365delC	c.(10363-10365)cccfs	p.P3455fs	RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.P2541fs|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3455					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)				GAACAATGAAGGGGTCGTAGA	0.582																																						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.(10363-10365)ccfs		zinc finger homeobox 3							89	90	90					16																	72821810		2198	4300	6498	SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821810delG	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.10365delC	16.37:g.72821810delG	ENSP00000268489:p.Pro3455fs		Somatic				ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.P2541fs	p.P3455fs	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			10	11037	-		Ovarian(137;0.13)	3455					D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	c.10365delC	CCDS10908.1																																																																																				0.582	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		52	13						52	13	---	---	---	---	-	72821810	G	-	72821810	7	5	26	1	0	1	0	1	0	0	0	0	17649	987	35	0	750	0	ZFHX3	16	72821810	Frame_Shift_Del	DEL	G	TCGA-N8-A4PL-01A-11D-A28R-08	67872535	72821810	17532943	52	2632										
ALOX12	239	broad.mit.edu	37	chr17	6900279	6900279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	cagggccctggagcctgcgcGgaggtggccttcccgtgcta	16	14	0	0			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:6900279G>A	ENST00000251535.6	+	2	323	c.270G>A	c.(268-270)gcG>gcA	p.A90A	RP11-589P10.5_ENST00000573222.1_lincRNA|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	90	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|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 endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						GAGCCTGCGCGGAGGTGGCCT	0.701																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(268-270)gcG>gcA		arachidonate 12-lipoxygenase							32	24	27					17																	6900279		2200	4297	6497	SO:0001819	synonymous_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6900279G>A	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"Arachidonate lipoxygenases"	429	protein-coding gene	gene with protein product	"platelet 12-LOX"	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.270G>A	17.37:g.6900279G>A			Somatic				AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA	p.A90A	NM_000697.2	NP_000688.2	WXS	Illumina GAIIx	Phase_I	P18054	LOX12_HUMAN			2	323	+			90			PLAT.		O95569|Q6ISF8|Q9UQM4	Silent	SNP	ENST00000251535.6	37	c.270G>A	CCDS11084.1																																																																																				0.701	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			5	11	0	0	0	1	0	5	11					A	6900279	G	A	6900279	2	1	26	1	0	0	0	0	0	0	0	1	536	1103	39	1		1	ALOX12	17	6900279	Silent	SNP	G	TCGA-N8-A4PL-01A-11D-A28R-08		6900279	74294931	53	2633										
TP53	7157	broad.mit.edu	37	chr17	7578203	7578203	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	cggctcatagggcaccaccaCactatgtcgaaaagtgtttc	9	12	1	0			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:7578203C>A	ENST00000269305.4	-	6	835	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	TP53_ENST00000420246.2_Missense_Mutation_p.V216L|TP53_ENST00000359597.4_Missense_Mutation_p.V216L|TP53_ENST00000445888.2_Missense_Mutation_p.V216L|TP53_ENST00000455263.2_Missense_Mutation_p.V216L|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.V216L	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	216	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 sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|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.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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)	GGCACCACCACACTATGTCGA	0.537		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"		113	Substitution - Missense(74)|Deletion - In frame(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Complex - deletion inframe(2)|Insertion - In frame(1)	p.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(1)	breast(17)|lung(14)|haematopoietic_and_lymphoid_tissue(12)|ovary(12)|upper_aerodigestive_tract(10)|large_intestine(9)|oesophagus(9)|biliary_tract(5)|central_nervous_system(5)|bone(5)|stomach(4)|liver(4)|pancreas(3)|soft_tissue(2)|urinary_tract(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	CX952222	TP53	X		c.(646-648)Gtg>Ttg	Other conserved DNA damage response genes	tumor protein p53							123	111	115					17																	7578203		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.chr17:7578203C>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.646G>T	17.37:g.7578203C>A	ENSP00000269305:p.Val216Leu	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.V216L|TP53_ENST00000359597.4_Missense_Mutation_p.V216L|TP53_ENST00000413465.2_Missense_Mutation_p.V216L|TP53_ENST00000445888.2_Missense_Mutation_p.V216L|TP53_ENST00000269305.4_Missense_Mutation_p.V216L|TP53_ENST00000574684.1_Intron	p.V216L	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	778	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	216		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 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.646G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221273	0.95139	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99853	-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18	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);	0.000000	0.85682	D	0.000000	D	0.99846	0.9929	M	0.79926	2.475	0.80722	D	1	D;D;P;D;D;D;D	0.89917	0.999;0.996;0.539;0.999;0.997;0.997;1.0	D;D;P;D;D;D;D	0.91635	0.997;0.999;0.574;0.998;0.999;0.998;0.996	D	0.96590	0.9437	10	0.87932	D	0	-12.2832	16.7921	0.85592	0.0:1.0:0.0:0.0	.	177;216;216;123;216;216;216	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	216;216;216;216;216;216;205;123;84;123;84	ENSP00000410739:V216L;ENSP00000352610:V216L;ENSP00000269305:V216L;ENSP00000398846:V216L;ENSP00000391127:V216L;ENSP00000391478:V216L;ENSP00000425104:V84L;ENSP00000423862:V123L	ENSP00000269305:V216L	V	-	1	0	TP53	7518928	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GTG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	30	1	0	0.00074312	1	0.000771702	17	30					A	7578203	C	A	7578203	3	1	26	1	0	0	0	0	1	0	0	0	16396	478	17	5	648	5	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	677924	7578203	73617007	54	2634										
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	14	13	3	1			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	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	179	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 sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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"		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|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						c.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							47	47	47					17																	7578394		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.chr17:7578394T>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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	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.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	p.H179R	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	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		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 sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	18	0	0	0	1	0	22	18					C	7578394	T	C	7578394	3	2	26	1	0	0	0	0	1	0	0	0	16396	1464	51	4	762	4	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-N8-A4PL-01A-11D-A28R-08	191	7578394	73616816	55	2635										
MYH8	4626	broad.mit.edu	37	chr17	10304252	10304252	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	tcatcttcaattttgcttatCaaattgctgatttcaaattc	3	8	5	1			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:10304252C>T	ENST00000403437.2	-	26	3373	c.3279G>A	c.(3277-3279)ttG>ttA	p.L1093L	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	1093					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						TTTTGCTTATCAAATTGCTGA	0.333									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.(3277-3279)ttG>ttA		myosin, heavy chain 8, skeletal muscle, perinatal							70	67	68					17																	10304252		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.chr17:10304252C>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.3279G>A	17.37:g.10304252C>T			Somatic				CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.L1093L	NM_002472.2	NP_002463.2	WXS	Illumina GAIIx	Phase_I	P13535	MYH8_HUMAN			26	3373	-			1093					Q14910	Silent	SNP	ENST00000403437.2	37	c.3279G>A	CCDS11153.1																																																																																				0.333	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		5	15	0	0	0	1	0	5	15					T	10304252	C	T	10304252	2	4	26	1	0	0	0	0	0	0	0	1	10050	825	29	3		3	MYH8	17	10304252	Silent	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	2725858	10304252	70890958	56	2636										
ZNF286B	729288	broad.mit.edu	37	chr17	18565523	18565523	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	tagggtttctctccagtgtgAattctctgatgttgaacaag	10	7	2	3			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:18565523A>C	ENST00000545289.1	-	5	1546	c.1296T>G	c.(1294-1296)atT>atG	p.I432M	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						CTCCAGTGTGAATTCTCTGAT	0.388																																						ENST00000545289.1																			0				endometrium(1)|lung(1)	2						c.(1294-1296)atT>atG		zinc finger protein 286B							70	76	74					17																	18565523		692	1591	2283	SO:0001583	missense	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18565523A>C		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"Zinc fingers, C2H2-type"	33241	protein-coding gene	gene with protein product	"zinc finger protein 590"		"zinc finger protein 286-like", "zinc finger 286C pseudogene"	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1296T>G	17.37:g.18565523A>C	ENSP00000461413:p.Ile432Met		Somatic					p.I432M	NM_001145045.1	NP_001138517.1	WXS	Illumina GAIIx	Phase_I	P0CG31	Z286B_HUMAN			5	1546	-			432						Missense_Mutation	SNP	ENST00000545289.1	37	c.1296T>G	CCDS58523.1																																																																																				0.388	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		19	24	0	0	0	1	0	19	24					C	18565523	A	C	18565523	3	2	26	1	0	0	0	0	1	0	0	0	17839	242	9	4	276	4	ZNF286B	17	18565523	Missense_Mutation	SNP	A	TCGA-N8-A4PL-01A-11D-A28R-08	8261271	18565523	62629687	57	2637										
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	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	ttcttactttgtagtcaccaAtgctgctcattgcaatgtat	6	9	3	0	rs144122311	byFrequency	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:67008130A>G	ENST00000340001.4	-	23	3345	c.3134T>C	c.(3133-3135)aTt>aCt	p.I1045T	ABCA9_ENST00000370732.2_Missense_Mutation_p.I1045T|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_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-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Missense_Mutation_p.I1045T|ABCA9_ENST00000453985.2_Missense_Mutation_p.I1045T	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		21	16	0	0	0	1	0	21	16					G	67008130	A	G	67008130	3	3	26	1	0	0	0	0	1	0	0	0	39	101	4	4	1808	4	ABCA9	17	67008130	Missense_Mutation	SNP	A	TCGA-N8-A4PL-01A-11D-A28R-08	48442607	67008130	14187080	58	2638										
SDK2	54549	broad.mit.edu	37	chr17	71346393	71346393	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	tacctggtgtacaggccgttCtttcggcagaaagagttctt	11	9	2	2			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:71346393C>G	ENST00000392650.3	-	43	6021	c.6021G>C	c.(6019-6021)aaG>aaC	p.K2007N	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.K1988N	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2007					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACAGGCCGTTCTTTCGGCAGA	0.612																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(6019-6021)aaG>aaC		sidekick cell adhesion molecule 2							57	46	50					17																	71346393		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71346393C>G	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6021G>C	17.37:g.71346393C>G	ENSP00000376421:p.Lys2007Asn		Somatic				SDK2_ENST00000388726.3_Missense_Mutation_p.K1988N|SDK2_ENST00000410094.1_5'UTR	p.K2007N	NM_001144952.1	NP_001138424.1	WXS	Illumina GAIIx	Phase_I	Q58EX2	SDK2_HUMAN			43	6021	-			2007					A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.6021G>C	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336478	0.60963	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.61980	0.08;0.06;1.32	5.53	3.55	0.40652	.	0.000000	0.85682	D	0.000000	T	0.70011	0.3175	L	0.53249	1.67	0.46564	D	0.999103	D;P	0.71674	0.998;0.729	D;B	0.65233	0.933;0.32	T	0.69946	-0.5007	10	0.72032	D	0.01	.	8.9789	0.35953	0.0:0.7732:0.0:0.2268	.	2007;1988	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	N	1631;2007;1988;1164;2007;348	ENSP00000376421:K2007N;ENSP00000373378:K1988N;ENSP00000407098:K1164N	ENSP00000324967:K2007N	K	-	3	2	SDK2	68857988	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	1.124000	0.31320	0.713000	0.32060	0.650000	0.86243	AAG		0.612	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		4	10	0	0	0	1	0	4	10					G	71346393	C	G	71346393	3	3	26	1	0	0	0	0	1	0	0	0	13984	912	32	2	509	2	SDK2	17	71346393	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	4338263	71346393	9848817	59	2639										
EXOC7	23265	broad.mit.edu	37	chr17	74079821	74079821	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	cgggttcttggtgaagggcaCgctgccaaacctgaggaggc	16	10	1	2			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:74079821C>T	ENST00000335146.7	-	20	2169	c.2116G>A	c.(2116-2118)Gtg>Atg	p.V706M	EXOC7_ENST00000589210.1_Missense_Mutation_p.V655M|EXOC7_ENST00000332065.5_Missense_Mutation_p.V624M|EXOC7_ENST00000411744.2_Missense_Mutation_p.V647M|EXOC7_ENST00000467929.2_Missense_Mutation_p.V627M|EXOC7_ENST00000405575.4_Missense_Mutation_p.V664M|EXOC7_ENST00000591724.1_5'Flank|EXOC7_ENST00000607838.1_Missense_Mutation_p.V678M			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	706					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GTGAAGGGCACGCTGCCAAAC	0.612																																						ENST00000607838.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(2032-2034)Gtg>Atg		exocyst complex component 7							119	92	101					17																	74079821		2203	4300	6503	SO:0001583	missense	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74079821C>T	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.2116G>A	17.37:g.74079821C>T	ENSP00000334100:p.Val706Met		Somatic				EXOC7_ENST00000411744.2_Missense_Mutation_p.V647M|EXOC7_ENST00000467929.2_Missense_Mutation_p.V627M|EXOC7_ENST00000332065.5_Missense_Mutation_p.V624M|EXOC7_ENST00000405575.4_Missense_Mutation_p.V664M|EXOC7_ENST00000589210.1_Missense_Mutation_p.V655M|EXOC7_ENST00000335146.7_Missense_Mutation_p.V706M	p.V678M	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	WXS	Illumina GAIIx	Phase_I	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		20	2126	-			706					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	c.2032G>A	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	c	11.03	1.518467	0.27211	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744	.	.	.	4.67	4.67	0.58626	Cullin repeat-like-containing domain (1);	0.064517	0.64402	D	0.000009	T	0.73273	0.3566	L	0.46741	1.465	0.80722	D	1	P;P;D;B;P;P;P	0.67145	0.565;0.57;0.996;0.337;0.865;0.871;0.913	B;B;D;B;B;B;B	0.69479	0.132;0.099;0.964;0.067;0.155;0.31;0.303	T	0.74639	-0.3598	9	0.51188	T	0.08	-21.454	17.759	0.88459	0.0:1.0:0.0:0.0	.	647;678;627;592;706;624;655	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;EXOC7_HUMAN;.;.	M	624;544;678;706;655;592;647	.	ENSP00000333806:V624M	V	-	1	0	EXOC7	71591416	1.000000	0.71417	0.996000	0.52242	0.073000	0.16967	3.563000	0.53784	2.427000	0.82271	0.556000	0.70494	GTG		0.612	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		41	9	0	0	0	1	0	41	9					T	74079821	C	T	74079821	3	4	26	1	0	0	0	0	1	0	0	0	5312	536	19	1	95	1	EXOC7	17	74079821	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	2733428	74079821	7115389	60	2640										
KDM4B	23030	broad.mit.edu	37	chr19	5119803	5119805	+	In_Frame_Del	DEL	GAG	GAG	-													0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	ctgggccggaggttgaccccGaggaggaggaggaggagccg					rs147027017		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr19:5119803_5119805delGAG	ENST00000159111.4	+	11	1473_1475	c.1255_1257delGAG	c.(1255-1257)gagdel	p.E424del	KDM4B_ENST00000536461.1_In_Frame_Del_p.E458del	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	424					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						GGTTGACCCCGAGGAGGAGGAGG	0.709																																						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.(1255-1257)del		lysine (K)-specific demethylase 4B				64,3356		3,58,1649						-8.8	0.3		dbSNP_134	10	119,6617		9,101,3258	no	coding	KDM4B	NM_015015.2		12,159,4907	A1A1,A1R,RR		1.7666,1.8713,1.8019				183,9973				SO:0001651	inframe_deletion	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.chr19:5119803_5119805delGAG	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.1255_1257delGAG	19.37:g.5119812_5119814delGAG	ENSP00000159111:p.Glu424del		Somatic				KDM4B_ENST00000536461.1_In_Frame_Del_p.E458del	p.E424del	NM_015015.2	NP_055830.1	WXS	Illumina GAIIx	Phase_I	O94953	KDM4B_HUMAN			11	1473_1475	+			424					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	In_Frame_Del	DEL	ENST00000159111.4	37	c.1255_1257delGAG	CCDS12138.1																																																																																				0.709	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		2	4						2	4	---	---	---	---	-	5119805	GAG	-	5119803	7	5	26	1	0	1	0	1	0	0	0	0	8138	1059	37	0	1289	0	KDM4B	19	5119803	In_Frame_Del	DEL	GAG	TCGA-N8-A4PL-01A-11D-A28R-08		5119803	54009180	61	2641										
CYP4F3	4051	broad.mit.edu	37	chr19	15760898	15760898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	atgccgtcatccaggagcggCgccgcaccctccctagccag	11	18	1	0	rs374257337		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr19:15760898C>T	ENST00000221307.8	+	7	870	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	CYP4F3_ENST00000585846.1_Missense_Mutation_p.R275C|CYP4F3_ENST00000586182.2_Missense_Mutation_p.R275C|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R275C	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	275					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						CCAGGAGCGGCGCCGCACCCT	0.572																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(823-825)Cgc>Tgc		cytochrome P450, family 4, subfamily F, polypeptide 3		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	106	96	99		823,823,823	4	0.6	19		99	1,8599		0,1,4299	no	missense,missense,missense	CYP4F3	NM_001199209.1,NM_001199208.1,NM_000896.2	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	275/521,275/521,275/521	15760898	1,13005	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.chr19:15760898C>T	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.823C>T	19.37:g.15760898C>T	ENSP00000221307:p.Arg275Cys		Somatic				CYP4F3_ENST00000585846.1_Missense_Mutation_p.R275C|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000586182.1_Missense_Mutation_p.R275C|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R275C	p.R275C	NM_000896.2	NP_000887.2	WXS	Illumina GAIIx	Phase_I	Q08477	CP4F3_HUMAN			7	871	+			275					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.823C>T	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	13.01	2.109451	0.37242	0.0	1.16E-4	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.71698	-0.59	3.99	3.99	0.46301	.	0.411149	0.18055	U	0.153135	T	0.79458	0.4449	H	0.95187	3.635	0.30928	N	0.727244	B;B	0.31153	0.31;0.122	B;B	0.36418	0.224;0.224	T	0.82041	-0.0654	10	0.72032	D	0.01	.	9.1108	0.36725	0.2186:0.7813:0.0:0.0	.	275;275	B7Z8Z3;Q08477	.;CP4F3_HUMAN	C	202;275	ENSP00000221307:R275C	ENSP00000221307:R275C	R	+	1	0	CYP4F3	15621898	0.816000	0.29132	0.642000	0.29436	0.800000	0.45204	2.058000	0.41374	1.783000	0.52377	0.313000	0.20887	CGC		0.572	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		48	53	0	0	0	1	0	48	53					T	15760898	C	T	15760898	3	4	26	1	0	0	0	0	1	0	0	0	4192	768	27	1	845	1	CYP4F3	19	15760898	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	10641095	15760898	43368085	62	2642										
ZNF296	162979	broad.mit.edu	37	chr19	45575175	45575175	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	ctgacttgggcatctttttgGgtgatgccttctggctgttt	12	8	2	2			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr19:45575175G>C	ENST00000303809.2	-	3	1326	c.1112C>G	c.(1111-1113)cCc>cGc	p.P371R		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	371					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CATCTTTTTGGGTGATGCCTT	0.612																																						ENST00000303809.2																			0				breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						c.(1111-1113)cCc>cGc		zinc finger protein 296							89	90	90					19																	45575175		2203	4300	6503	SO:0001583	missense	162979				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:45575175G>C	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"Zinc fingers, C2H2-type"	15981	protein-coding gene	gene with protein product		613226	"zinc finger protein 342"	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.1112C>G	19.37:g.45575175G>C	ENSP00000302770:p.Pro371Arg		Somatic					p.P371R	NM_145288.1	NP_660331.1	WXS	Illumina GAIIx	Phase_I	Q8WUU4	ZN296_HUMAN			3	1326	-			371						Missense_Mutation	SNP	ENST00000303809.2	37	c.1112C>G	CCDS12653.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887009	0.33348	.	.	ENSG00000170684	ENST00000303809;ENST00000545481	T	0.06218	3.33	5.11	2.87	0.33458	.	0.297383	0.24722	N	0.036138	T	0.12561	0.0305	L	0.29908	0.895	0.24219	N	0.995444	D	0.89917	1.0	D	0.85130	0.997	T	0.03761	-1.1006	10	0.49607	T	0.09	-14.7647	9.2868	0.37762	0.0871:0.1508:0.7622:0.0	.	371	Q8WUU4	ZN296_HUMAN	R	371;347	ENSP00000302770:P371R	ENSP00000302770:P371R	P	-	2	0	ZNF296	50267015	0.007000	0.16637	0.488000	0.27440	0.181000	0.23173	0.146000	0.16180	1.232000	0.43678	0.563000	0.77884	CCC		0.612	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288		5	217	0	0	0	1	0	5	217					C	45575175	G	C	45575175	3	2	26	1	0	0	0	0	1	0	0	0	17843	1232	43	5	319	5	ZNF296	19	45575175	Missense_Mutation	SNP	G	TCGA-N8-A4PL-01A-11D-A28R-08	29814277	45575175	13553808	63	2643										
PPP2R1A	5518	broad.mit.edu	37	chr19	52715971	52715971	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	cctgtgctcagatgacacccCcatggtgcggcgggccgcag	14	15	1	2			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr19:52715971C>G	ENST00000322088.6	+	5	594	c.536C>G	c.(535-537)cCc>cGc	p.P179R	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.P179R(21)|p.P179L(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		26	Substitution - Missense(26)	p.P179R(21)|p.P179L(5)	endometrium(25)|ovary(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(535-537)cCc>cGc		protein phosphatase 2, regulatory subunit A, alpha							61	52	55					19																	52715971		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715971C>G		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.536C>G	19.37:g.52715971C>G	ENSP00000324804:p.Pro179Arg		Somatic				PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R	p.P179R	NM_014225.5	NP_055040.2	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	594	+			179			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.536C>G	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457832	0.84317	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.16597	2.33;2.33	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.092820	0.45867	D	0.000326	T	0.55226	0.1907	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.995	T	0.70695	-0.4801	10	0.87932	D	0	-22.0504	15.1189	0.72426	0.0:1.0:0.0:0.0	.	124;179;179	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	R	169;99;179;124	ENSP00000324804:P179R;ENSP00000415067:P124R	ENSP00000324804:P179R	P	+	2	0	PPP2R1A	57407783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.760000	0.74939	2.503000	0.84419	0.655000	0.94253	CCC		0.612	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		19	34	0	0	0	1	0	19	34					G	52715971	C	G	52715971	3	3	26	1	0	0	0	0	1	0	0	0	12394	623	22	5	554	5	PPP2R1A	19	52715971	Missense_Mutation	SNP	C	TCGA-N8-A4PL-01A-11D-A28R-08	7140796	52715971	6413012	64	2644										
PEG3	5178	broad.mit.edu	37	chr19	57326398	57326398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	tacagaatgtgtgtactcccGactgtcaaccaggcacttcc	8	13	1	1			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr19:57326398G>A	ENST00000326441.9	-	10	3775	c.3412C>T	c.(3412-3414)Cgg>Tgg	p.R1138W	PEG3_ENST00000598410.1_Missense_Mutation_p.R1014W|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R1138W|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R1012W|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1138					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)		GTGTACTCCCGACTGTCAACC	0.483																																						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.(3412-3414)Cgg>Tgg		paternally expressed 3							170	152	158					19																	57326398		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.chr19:57326398G>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.3412C>T	19.37:g.57326398G>A	ENSP00000326581:p.Arg1138Trp		Somatic				PEG3_ENST00000593695.1_Missense_Mutation_p.R1012W|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R1014W|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R1138W|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron	p.R1138W	NM_006210.2	NP_006201.1	WXS	Illumina GAIIx	Phase_I	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	3775	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1138					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3412C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910985	0.52439	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02787	4.16;4.16	4.33	-1.8	0.07907	.	0.610593	0.15015	N	0.285325	T	0.04679	0.0127	L	0.27053	0.805	.	.	.	D;D;D	0.89917	0.997;0.999;1.0	P;P;D	0.66847	0.727;0.893;0.947	T	0.36114	-0.9761	9	0.72032	D	0.01	-9.5391	3.4377	0.07452	0.2604:0.0:0.2943:0.4453	.	1014;1138;1073	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	W	1138	ENSP00000326581:R1138W;ENSP00000403051:R1138W	ENSP00000326581:R1138W	R	-	1	2	ZIM2	62018210	0.000000	0.05858	0.000000	0.03702	0.981000	0.71138	-0.416000	0.07097	-0.153000	0.11137	0.655000	0.94253	CGG		0.483	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			44	66	0	0	0	1	0	44	66					A	57326398	G	A	57326398	3	1	26	1	0	0	0	0	1	0	0	0	11729	1057	37	1	1358	1	PEG3	19	57326398	Missense_Mutation	SNP	G	TCGA-N8-A4PL-01A-11D-A28R-08	4610427	57326398	1802585	65	2645										
SMC1A	8243	broad.mit.edu	37	chrX	53432289	53432289	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0454545454545455	3	1	0.550564784053156	0.986428571428571	0.450938775510204	1	1	0	ccccaccagagatcactcctGacttctggaatagggttcca	8	14	2	2			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chrX:53432289G>A	ENST00000322213.4	-	12	2073	c.1946C>T	c.(1945-1947)tCa>tTa	p.S649L	SMC1A_ENST00000375340.6_Missense_Mutation_p.S415L	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	649	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GATCACTCCTGACTTCTGGAA	0.532																																						ENST00000322213.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(1945-1947)tCa>tTa		structural maintenance of chromosomes 1A							48	41	44					X																	53432289		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53432289G>A	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1946C>T	X.37:g.53432289G>A	ENSP00000323421:p.Ser649Leu		Somatic				SMC1A_ENST00000375340.6_Missense_Mutation_p.S415L	p.S649L	NM_006306.2	NP_006297.2	WXS	Illumina GAIIx	Phase_I	Q14683	SMC1A_HUMAN			12	2073	-			649			Flexible hinge.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.1946C>T	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758257	0.89843	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;D	0.87650	-2.28;-2.28	4.74	4.74	0.60224	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.94870	0.8342	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.993;0.995;0.999	D	0.96026	0.9013	10	0.87932	D	0	.	15.8863	0.79251	0.0:0.0:1.0:0.0	.	415;627;649	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	L	649;415	ENSP00000323421:S649L;ENSP00000364489:S415L	ENSP00000323421:S649L	S	-	2	0	SMC1A	53449014	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.349000	0.97066	2.353000	0.79882	0.529000	0.55759	TCA		0.532	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		3	0	0	0	0	1	0	3	0					A	53432289	G	A	53432289	3	1	26	1	0	0	0	0	1	0	0	0	14796	1294	45	3	1811	3	SMC1A	23	53432289	Missense_Mutation	SNP	G	TCGA-N8-A4PL-01A-11D-A28R-08		53432289	101838271	66	2646										
PTCHD2	57540	broad.mit.edu	37	chr1	11589625	11589625	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	ctccacaggaagctgtacttCgcccagtcccacaagccccc	7	19	0	0			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:11589625C>T	ENST00000294484.6	+	14	2949	c.2811C>T	c.(2809-2811)ttC>ttT	p.F937F	PTCHD2_ENST00000389575.3_Silent_p.F937F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	937					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCTGTACTTCGCCCAGTCCC	0.652																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(2809-2811)ttC>ttT		patched domain containing 2							55	62	60					1																	11589625		2025	4181	6206	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11589625C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2811C>T	1.37:g.11589625C>T			Somatic				PTCHD2_ENST00000389575.3_Silent_p.F937F	p.F937F	NM_020780.1	NP_065831.1	WXS	Illumina GAIIx	Phase_I	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	14	2949	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	937					Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.2811C>T	CCDS41247.1																																																																																				0.652	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		39	106	0	0	0	1	0	39	106					T	11589625	C	T	11589625	2	4	27	1	0	0	0	0	0	0	0	1	12745	883	31	1		1	PTCHD2	1	11589625	Silent	SNP	C	TCGA-N8-A4PM-01A-11D-A28R-08		11589625	237660996	1	2647										
KIAA2013	90231	broad.mit.edu	37	chr1	11985518	11985518	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	gcggccaccaccaccaggtgCaccaacccagtgggcgtagg	13	16	0	0			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:11985518C>A	ENST00000376572.3	-	1	962	c.777G>T	c.(775-777)gtG>gtT	p.V259V	KIAA2013_ENST00000376576.3_Silent_p.V259V	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	259						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;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)		CCACCAGGTGCACCAACCCAG	0.647																																						ENST00000376572.3																			0				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7						c.(775-777)gtG>gtT		KIAA2013							10	10	10					1																	11985518		2187	4243	6430	SO:0001819	synonymous_variant	90231					integral to membrane		g.chr1:11985518C>A	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.777G>T	1.37:g.11985518C>A			Somatic				KIAA2013_ENST00000376576.3_Silent_p.V259V	p.V259V	NM_138346.2	NP_612355.1	WXS	Illumina GAIIx	Phase_I	Q8IYS2	K2013_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	962	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	259					Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Silent	SNP	ENST00000376572.3	37	c.777G>T	CCDS141.1																																																																																				0.647	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		20	16	1	0	3.51602e-12	1	3.7141e-12	20	16					A	11985518	C	A	11985518	2	1	27	1	0	0	0	0	0	0	0	1	8276	697	25	5		5	KIAA2013	1	11985518	Silent	SNP	C	TCGA-N8-A4PM-01A-11D-A28R-08	395893	11985518	237265103	2	2648										
INADL	10207	broad.mit.edu	37	chr1	62586895	62586895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	gcagctgtcatccctccttcGctcctgtcatcactggcctg	8	17	3	0			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:62586895G>A	ENST00000371158.2	+	38	5047	c.4933G>A	c.(4933-4935)Gct>Act	p.A1645T	INADL_ENST00000472512.1_3'UTR	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1645					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						TCCCTCCTTCGCTCCTGTCAT	0.507																																						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.(4933-4935)Gct>Act		InaD-like (Drosophila)							105	114	111					1																	62586895		2080	4218	6298	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62586895G>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4933G>A	1.37:g.62586895G>A	ENSP00000360200:p.Ala1645Thr		Somatic				INADL_ENST00000472512.1_3'UTR	p.A1645T	NM_176877.2	NP_795352.2	WXS	Illumina GAIIx	Phase_I	Q8NI35	INADL_HUMAN			38	5047	+			1645					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.4933G>A	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504592	0.26949	.	.	ENSG00000132849	ENST00000371158	T	0.11277	2.79	5.93	3.04	0.35103	PDZ/DHR/GLGF (1);	0.470343	0.21602	N	0.071940	T	0.05273	0.0140	N	0.14661	0.345	0.19300	N	0.999974	B	0.13145	0.007	B	0.09377	0.004	T	0.42882	-0.9425	10	0.13470	T	0.59	.	7.183	0.25784	0.1489:0.1403:0.7108:0.0	.	1645	Q8NI35	INADL_HUMAN	T	1645	ENSP00000360200:A1645T	ENSP00000360200:A1645T	A	+	1	0	INADL	62359483	0.016000	0.18221	0.002000	0.10522	0.004000	0.04260	1.421000	0.34815	0.843000	0.35070	0.655000	0.94253	GCT		0.507	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		49	53	0	0	0	1	0	49	53					A	62586895	G	A	62586895	3	1	27	1	0	0	0	0	1	0	0	0	7740	1087	38	1	5079	1	INADL	1	62586895	Missense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08	50601377	62586895	186663726	3	2649										
GJA8	2703	broad.mit.edu	37	chr1	147380635	147380635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	tgcctctgtaccgctgcagcCggtggccctgccccaatgtg	12	16	1	0	rs201445539		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:147380635C>T	ENST00000369235.1	+	1	553	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	GJA8_ENST00000240986.4_Missense_Mutation_p.R185W			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	185					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGCTGCAGCCGGTGGCCCTG	0.567																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(553-555)Cgg>Tgg		gap junction protein, alpha 8, 50kDa							103	94	97					1																	147380635		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380635C>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.553C>T	1.37:g.147380635C>T	ENSP00000358238:p.Arg185Trp		Somatic				GJA8_ENST00000369235.1_Missense_Mutation_p.R185W	p.R185W	NM_005267.4	NP_005258.2	WXS	Illumina GAIIx	Phase_I	P48165	CXA8_HUMAN			2	606	+	all_hematologic(923;0.0276)		185					A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.553C>T	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	c	16.27	3.076020	0.55646	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.95980	-3.87;-3.87	4.89	2.97	0.34412	Gap junction protein, cysteine-rich domain (1);Connexin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97845	0.9292	H	0.94886	3.595	0.51482	D	0.999922	D	0.89917	1.0	D	0.87578	0.998	D	0.98329	1.0532	10	0.87932	D	0	.	13.3305	0.60483	0.5685:0.4315:0.0:0.0	.	185	P48165	CXA8_HUMAN	W	185	ENSP00000240986:R185W;ENSP00000358238:R185W	ENSP00000240986:R185W	R	+	1	2	GJA8	145847259	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	1.462000	0.35266	0.421000	0.25980	0.313000	0.20887	CGG		0.567	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		6	140	0	0	0	1	0	6	140					T	147380635	C	T	147380635	3	4	27	1	0	0	0	0	1	0	0	0	6413	643	23	1	555	1	GJA8	1	147380635	Missense_Mutation	SNP	C	TCGA-N8-A4PM-01A-11D-A28R-08	84793740	147380635	101869986	4	2650										
TDRD10	126668	broad.mit.edu	37	chr1	154493952	154493952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	atccagcagcctcgggccccGctggtatgtcttctggcctt	11	15	2	0			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:154493952G>A	ENST00000368480.3	+	6	451	c.366G>A	c.(364-366)ccG>ccA	p.P122P	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Silent_p.P122P			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	122							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTCGGGCCCCGCTGGTATGTC	0.527																																						ENST00000368482.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(364-366)ccG>ccA		tudor domain containing 10							119	129	125					1																	154493952		2203	4300	6503	SO:0001819	synonymous_variant	126668						nucleotide binding|RNA binding	g.chr1:154493952G>A	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"Tudor domain containing", "RNA binding motif (RRM) containing"	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.366G>A	1.37:g.154493952G>A			Somatic				TDRD10_ENST00000368480.3_Silent_p.P122P|TDRD10_ENST00000479937.1_3'UTR	p.P122P	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	WXS	Illumina GAIIx	Phase_I	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	1204	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		122					A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Silent	SNP	ENST00000368480.3	37	c.366G>A	CCDS41406.1																																																																																				0.527	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		91	103	0	0	0	1	0	91	103					A	154493952	G	A	154493952	2	1	27	1	0	0	0	0	0	0	0	1	15746	1074	38	1		1	TDRD10	1	154493952	Silent	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08	7113317	154493952	94756669	5	2651										
IL1RL2	8808	broad.mit.edu	37	chr2	102805588	102805588	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	atactttcagcaagccagccTtttgcttttaattgtacatt	5	9	1	0			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr2:102805588T>C	ENST00000264257.2	+	3	237	c.111T>C	c.(109-111)ccT>ccC	p.P37P	IL1RL2_ENST00000539491.1_Silent_p.P37P|IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000481806.1_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	37	Ig-like C2-type 1.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CAAGCCAGCCTTTTGCTTTTA	0.343																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(109-111)ccT>ccC		interleukin 1 receptor-like 2							85	84	85					2																	102805588		2203	4300	6503	SO:0001819	synonymous_variant	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102805588T>C	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.111T>C	2.37:g.102805588T>C			Somatic				IL1RL2_ENST00000539491.1_Silent_p.P37P|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000441515.2_Intron	p.P37P	NM_003854.2	NP_003845.2	WXS	Illumina GAIIx	Phase_I	Q9HB29	ILRL2_HUMAN			3	237	+			37			Ig-like C2-type 1.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	ENST00000264257.2	37	c.111T>C	CCDS2056.1																																																																																				0.343	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		18	24	0	0	0	1	0	18	24					C	102805588	T	C	102805588	2	2	27	1	0	0	0	0	0	0	0	1	7673	1596	56	4		4	IL1RL2	2	102805588	Silent	SNP	T	TCGA-N8-A4PM-01A-11D-A28R-08		102805588	140393785	6	2652										
CCDC141	285025	broad.mit.edu	37	chr2	179702420	179702420	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	cttcaggtcttgtggtagtcGctcttcccctgttccattga	9	12	3	1	rs143765782	byFrequency	TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr2:179702420G>A	ENST00000420890.2	-	23	3643	c.3526C>T	c.(3526-3528)Cga>Tga	p.R1176*	CCDC141_ENST00000295723.5_Nonsense_Mutation_p.R601*|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1176										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)			TGTGGTAGTCGCTCTTCCCCT	0.483																																						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.(3526-3528)Cga>Tga		coiled-coil domain containing 141		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	86	86	86		3526	0.4	0	2	dbSNP_134	86	3,8597	3.0+/-9.4	0,3,4297	yes	stop-gained	CCDC141	NM_173648.3		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		1176/1531	179702420	4,13002	2203	4300	6503	SO:0001587	stop_gained	285025						protein binding	g.chr2:179702420G>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.3526C>T	2.37:g.179702420G>A	ENSP00000395995:p.Arg1176*		Somatic				CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Nonsense_Mutation_p.R601*	p.R1176*	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	3643	-			601					H7C0P1|J3KNW6|Q8N8H3	Nonsense_Mutation	SNP	ENST00000420890.2	37	c.3526C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.454400	0.98296	2.27E-4	3.49E-4	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	.	.	.	5.57	0.424	0.16468	.	1.161330	0.06400	N	0.718730	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-0.0065	1.8743	0.03215	0.1314:0.2841:0.2806:0.304	.	.	.	.	X	1176;620;601	.	ENSP00000295723:R601X	R	-	1	2	CCDC141	179410665	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.367000	0.20382	-0.002000	0.14469	-0.321000	0.08615	CGA		0.483	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		36	54	0	0	0	1	0	36	54					A	179702420	G	A	179702420	4	1	27	1	0	0	0	0	0	1	0	0	2777	1095	38	1	830	1	CCDC141	2	179702420	Nonsense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08	76896832	179702420	63496953	7	2653										
ZDBF2	57683	broad.mit.edu	37	chr2	207175965	207175965	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	tgtctttttacgtcatagatAtcagtccaggagcgcttttc	8	9	3	1			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr2:207175965A>T	ENST00000374423.3	+	5	7099	c.6713A>T	c.(6712-6714)tAt>tTt	p.Y2238F		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2238							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						CGTCATAGATATCAGTCCAGG	0.373																																						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.(6712-6714)tAt>tTt		zinc finger, DBF-type containing 2							36	37	36					2																	207175965		1818	4076	5894	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207175965A>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.6713A>T	2.37:g.207175965A>T	ENSP00000363545:p.Tyr2238Phe		Somatic					p.Y2238F	NM_020923.1	NP_065974.1	WXS	Illumina GAIIx	Phase_I	Q9HCK1	ZDBF2_HUMAN			5	7099	+			2238					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.6713A>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.681997	0.29872	.	.	ENSG00000204186	ENST00000374423	T	0.51071	0.72	5.46	3.02	0.34903	.	.	.	.	.	T	0.33000	0.0848	L	0.36672	1.1	0.09310	N	1	B	0.28055	0.199	B	0.25405	0.06	T	0.19679	-1.0298	9	0.29301	T	0.29	.	5.3533	0.16047	0.7264:0.0:0.1439:0.1297	.	2238	Q9HCK1	ZDBF2_HUMAN	F	2238	ENSP00000363545:Y2238F	ENSP00000363545:Y2238F	Y	+	2	0	ZDBF2	206884210	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.143000	0.16115	0.417000	0.25871	-0.274000	0.10170	TAT		0.373	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		12	17	0	0	0	1	0	12	17					T	207175965	A	T	207175965	3	4	27	1	0	0	0	0	1	0	0	0	17614	449	16	4	6723	4	ZDBF2	2	207175965	Missense_Mutation	SNP	A	TCGA-N8-A4PM-01A-11D-A28R-08	27473545	207175965	36023408	8	2654										
ALCAM	214	broad.mit.edu	37	chr3	105260603	105260603	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	ttgcttcaacagctatcacaGttcactgtaagtcacctact	5	12	4	0			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr3:105260603G>T	ENST00000306107.5	+	8	1485	c.985G>T	c.(985-987)Gtt>Ttt	p.V329F	ALCAM_ENST00000472644.2_Missense_Mutation_p.V329F|ALCAM_ENST00000486979.2_Missense_Mutation_p.V278F|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	329					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						AGCTATCACAGTTCACTGTAA	0.393																																						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.(985-987)Gtt>Ttt		activated leukocyte cell adhesion molecule							135	113	120					3																	105260603		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105260603G>T	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.985G>T	3.37:g.105260603G>T	ENSP00000305988:p.Val329Phe		Somatic				ALCAM_ENST00000486979.2_Missense_Mutation_p.V278F|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.V329F	p.V329F	NM_001627.3	NP_001618.2	WXS	Illumina GAIIx	Phase_I	Q13740	CD166_HUMAN			8	1485	+			329					B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.985G>T	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249447	0.80024	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979	T;T;T	0.35789	1.29;1.29;1.29	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65026	0.2652	M	0.88640	2.97	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.65874	0.939;0.939	T	0.69694	-0.5076	10	0.72032	D	0.01	-17.6733	14.9567	0.71120	0.0674:0.0:0.9326:0.0	.	329;329	B4DTU0;Q13740	.;CD166_HUMAN	F	329;329;278	ENSP00000305988:V329F;ENSP00000419236:V329F;ENSP00000418213:V278F	ENSP00000305988:V329F	V	+	1	0	ALCAM	106743293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.995000	0.57001	2.941000	0.99782	0.655000	0.94253	GTT		0.393	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		31	17	1	0	8.16721e-17	1	9.1424e-17	31	17					T	105260603	G	T	105260603	3	4	27	1	0	0	0	0	1	0	0	0	487	1029	36	5	1015	5	ALCAM	3	105260603	Missense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08		105260603	92761827	9	2655										
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.H1047R	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	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			38	38	0	0	0	1	0	38	38					G	178952085	A	G	178952085	3	3	27	1	0	0	0	0	1	0	0	0	11922	217	8	4	3218	4	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-N8-A4PM-01A-11D-A28R-08	73691482	178952085	19070345	10	2656										
UBXN7	26043	broad.mit.edu	37	chr3	196094903	196094903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	tcctaattatacttactgaaCgggcacattttttgggggga	10	7	0	1			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr3:196094903C>T	ENST00000296328.4	-	8	904	c.830G>A	c.(829-831)cGt>cAt	p.R277H	UBXN7_ENST00000428095.1_Missense_Mutation_p.R115H|UBXN7_ENST00000535858.1_Missense_Mutation_p.R129H	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	277						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						ACTTACTGAACGGGCACATTT	0.383																																						ENST00000296328.4																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(829-831)cGt>cAt		UBX domain protein 7							149	137	140					3																	196094903		1852	4093	5945	SO:0001583	missense	26043						protein binding	g.chr3:196094903C>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.830G>A	3.37:g.196094903C>T	ENSP00000296328:p.Arg277His		Somatic				UBXN7_ENST00000428095.1_Missense_Mutation_p.R115H|UBXN7_ENST00000535858.1_Missense_Mutation_p.R129H	p.R277H	NM_015562.1	NP_056377.1	WXS	Illumina GAIIx	Phase_I	O94888	UBXN7_HUMAN			8	904	-			277					D3DXB3|Q6ZP77|Q86X20|Q8N327	Missense_Mutation	SNP	ENST00000296328.4	37	c.830G>A	CCDS43191.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499491	0.85176	.	.	ENSG00000163960	ENST00000296328;ENST00000428095;ENST00000535858	.	.	.	5.29	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.63283	0.913	T	0.61686	-0.7012	9	0.38643	T	0.18	-9.8923	14.207	0.65741	0.0:0.9282:0.0:0.0718	.	277	O94888	UBXN7_HUMAN	H	277;115;129	.	ENSP00000296328:R277H	R	-	2	0	UBXN7	197579300	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.658000	0.74407	1.451000	0.47736	-0.150000	0.13652	CGT		0.383	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		34	31	0	0	0	1	0	34	31					T	196094903	C	T	196094903	3	4	27	1	0	0	0	0	1	0	0	0	16933	536	19	1	655	1	UBXN7	3	196094903	Missense_Mutation	SNP	C	TCGA-N8-A4PM-01A-11D-A28R-08	17142818	196094903	1927527	11	2657										
RGS12	6002	broad.mit.edu	37	chr4	3432185	3432185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	caacagagcagatgaccaacGtgggctgctaaggaaggaag	14	8	0	3	rs375895098		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr4:3432185G>A	ENST00000344733.5	+	17	4521	c.3617G>A	c.(3616-3618)cGt>cAt	p.R1206H	RGS12_ENST00000336727.3_Missense_Mutation_p.R1206H|RGS12_ENST00000306648.7_Missense_Mutation_p.V553M|RGS12_ENST00000382788.3_Missense_Mutation_p.R1206H|RGS12_ENST00000338806.4_Missense_Mutation_p.R558H|RGS12_ENST00000538395.1_Missense_Mutation_p.V497M	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1206	GoLoco. {ECO:0000255|PROSITE- ProRule:PRU00097}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATGACCAACGTGGGCTGCTA	0.493																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3616-3618)cGt>cAt		regulator of G-protein signaling 12		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	136	110	119		3617,1673,3617	4.8	1	4		119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RGS12	NM_002926.3,NM_198227.1,NM_198229.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1206/1377,558/800,1206/1448	3432185	1,13005	2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3432185G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3617G>A	4.37:g.3432185G>A	ENSP00000339381:p.Arg1206His		Somatic				RGS12_ENST00000306648.7_Missense_Mutation_p.V553M|RGS12_ENST00000338806.4_Missense_Mutation_p.R558H|RGS12_ENST00000382788.3_Missense_Mutation_p.R1206H|RGS12_ENST00000344733.5_Missense_Mutation_p.R1206H|RGS12_ENST00000538395.1_Missense_Mutation_p.V497M	p.R1206H	NM_002926.3	NP_002917.1	WXS	Illumina GAIIx	Phase_I	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	17	4521	+			1206			GoLoco.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.3617G>A	CCDS3366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.13|18.13	3.554848|3.554848	0.65425|0.65425	0.0|0.0	1.16E-4|1.16E-4	ENSG00000159788|ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000338806|ENST00000306648;ENST00000538395	T;T;T;T|T;T	0.80123|0.38722	-0.65;-0.68;-0.68;-1.34|1.12;1.19	4.76|4.76	4.76|4.76	0.60689|0.60689	GoLoco motif (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45915|0.45915	0.1366|0.1366	M|M	0.74647|0.74647	2.275|2.275	0.36793|0.36793	D|D	0.884963|0.884963	D;D;D;D|P;P	0.89917|0.43024	1.0;1.0;1.0;1.0|0.798;0.798	D;D;D;D|B;B	0.97110|0.38327	1.0;1.0;1.0;1.0|0.128;0.271	T|T	0.62742|0.62742	-0.6790|-0.6790	10|9	0.87932|0.52906	D|T	0|0.07	-24.5127|-24.5127	16.7743|16.7743	0.85547|0.85547	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	548;558;1206;1206|497;553	O14924-2;O14924-3;O14924;O14924-4|B7Z764;Q8WX95	.;.;RGS12_HUMAN;.|.;.	H|M	1206;1206;1206;558|553;497	ENSP00000339381:R1206H;ENSP00000338509:R1206H;ENSP00000372238:R1206H;ENSP00000342133:R558H|ENSP00000304459:V553M;ENSP00000438888:V497M	ENSP00000338509:R1206H|ENSP00000304459:V553M	R|V	+|+	2|1	0|0	RGS12|RGS12	3401983|3401983	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.405000|9.405000	0.97313|0.97313	2.193000|2.193000	0.70182|0.70182	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.493	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		33	84	0	0	0	1	0	33	84					A	3432185	G	A	3432185	3	1	27	1	0	0	0	0	1	0	0	0	13310	1145	40	1	3737	1	RGS12	4	3432185	Missense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08		3432185	187722091	12	2658										
FBXW7	55294	broad.mit.edu	37	chr4	153244092	153244092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	ggtttcttcagtcccattccGactcccaactgcacacacca	5	17	2	0			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr4:153244092G>A	ENST00000281708.4	-	12	3294	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W	FBXW7_ENST00000393956.3_Missense_Mutation_p.R513W|FBXW7_ENST00000603548.1_Missense_Mutation_p.R689W|FBXW7_ENST00000603841.1_Missense_Mutation_p.R689W|FBXW7_ENST00000263981.5_Missense_Mutation_p.R609W|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000296555.5_Missense_Mutation_p.R571W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	689					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R689W(10)|p.R450W(3)|p.R609W(3)|p.R571W(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTCCCATTCCGACTCCCAACT	0.478			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		18	Substitution - Missense(17)|Unknown(1)	p.R689W(10)|p.R450W(3)|p.R609W(3)|p.R571W(1)|p.?(1)	large_intestine(11)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(2065-2067)Cgg>Tgg		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							172	167	168					4																	153244092		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153244092G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.2065C>T	4.37:g.153244092G>A	ENSP00000281708:p.Arg689Trp		Somatic				FBXW7_ENST00000263981.5_Missense_Mutation_p.R609W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R513W|FBXW7_ENST00000296555.5_Missense_Mutation_p.R571W|FBXW7_ENST00000603841.1_Missense_Mutation_p.R689W|FBXW7_ENST00000603548.1_Missense_Mutation_p.R689W	p.R689W	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			12	3294	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	689					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.2065C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475565	0.26511	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.82923	2.615	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	0.53892	-0.8374	10	0.87932	D	0	-15.04	14.5904	0.68359	0.0:0.0:0.854:0.146	.	513;689;571;609	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	W	689;571;609;513	ENSP00000281708:R689W;ENSP00000296555:R571W;ENSP00000263981:R609W;ENSP00000377528:R513W	ENSP00000263981:R609W	R	-	1	2	FBXW7	153463542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.906000	0.56340	2.681000	0.91329	0.655000	0.94253	CGG		0.478	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			60	69	0	0	0	1	0	60	69					A	153244092	G	A	153244092	3	1	27	1	0	0	0	0	1	0	0	0	5777	1057	37	1	62	1	FBXW7	4	153244092	Missense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08	149811907	153244092	37910184	13	2659										
ADAMTS16	170690	broad.mit.edu	37	chr5	5200325	5200325	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	gtcccctacattggcaggacGcaatggagtcttctcctggt	11	12	2	0	rs199521777		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:5200325G>A	ENST00000274181.7	+	9	1532	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R465H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	465	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						TTGGCAGGACGCAATGGAGTC	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.(1393-1395)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							88	92	91					5																	5200325		1972	4176	6148	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5200325G>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.1394G>A	5.37:g.5200325G>A	ENSP00000274181:p.Arg465His		Somatic				ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R465H	p.R465H	NM_139056.2	NP_620687.2	WXS	Illumina GAIIx	Phase_I	Q8TE57	ATS16_HUMAN			9	1532	+			465			Peptidase M12B.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1394G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953792	0.34471	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.03772	3.81;3.81	4.76	3.62	0.41486	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.064020	0.64402	D	0.000012	T	0.01387	0.0045	N	0.01209	-0.955	0.39383	D	0.966283	B;B;B	0.14438	0.01;0.006;0.007	B;B;B	0.13407	0.005;0.005;0.009	T	0.48779	-0.9005	10	0.10111	T	0.7	.	4.1754	0.10349	0.3298:0.0:0.6702:0.0	.	465;465;465	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	H	465	ENSP00000274181:R465H;ENSP00000421631:R465H	ENSP00000274181:R465H	R	+	2	0	ADAMTS16	5253325	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	4.056000	0.57448	2.347000	0.79759	0.655000	0.94253	CGC		0.483	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		31	17	0	0	0	1	0	31	17					A	5200325	G	A	5200325	3	1	27	1	0	0	0	0	1	0	0	0	261	1087	38	1	1428	1	ADAMTS16	5	5200325	Missense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08		5200325	175714935	14	2660										
ADAMTS12	81792	broad.mit.edu	37	chr5	33658404	33658404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	gtgagacaggcccagggtctCgcaggggcgattgaaaccag	16	10	1	2	rs367793699		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:33658404C>T	ENST00000504830.1	-	7	1410	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E359K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	359	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						CCCAGGGTCTCGCAGGGGCGA	0.498										HNSCC(64;0.19)			C|||	1	0.000199681	8e-04	0	5008	,	,		19101	0		0	False		,,,				2504	0					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.(1075-1077)Gag>Aag		ADAM metallopeptidase with thrombospondin type 1 motif, 12		C	LYS/GLU	0,4406		0,0,2203	127	129	128		1075	6.2	1	5		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS12	NM_030955.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	359/1595	33658404	1,13005	2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33658404C>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.1075G>A	5.37:g.33658404C>T	ENSP00000422554:p.Glu359Lys	HNSCC(64;0.19)	Somatic				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E359K|ADAMTS12_ENST00000504582.1_5'UTR	p.E359K	NM_030955.2	NP_112217.2	WXS	Illumina GAIIx	Phase_I	P58397	ATS12_HUMAN			7	1410	-			359			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1075G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	36	5.756516	0.96898	0.0	1.16E-4	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.86366	-2.11;-2.11	6.17	6.17	0.99709	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.044361	0.85682	D	0.000000	D	0.93334	0.7875	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.969;0.997	D	0.92414	0.5940	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	359;359	P58397-3;P58397	.;ATS12_HUMAN	K	359	ENSP00000422554:E359K;ENSP00000344847:E359K	ENSP00000344847:E359K	E	-	1	0	ADAMTS12	33694161	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAG		0.498	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		6	108	0	0	0	1	0	6	108					T	33658404	C	T	33658404	3	4	27	1	0	0	0	0	1	0	0	0	257	893	31	1	3781	1	ADAMTS12	5	33658404	Missense_Mutation	SNP	C	TCGA-N8-A4PM-01A-11D-A28R-08	28458079	33658404	147256856	15	2661										
ERBB2IP	55914	broad.mit.edu	37	chr5	65370850	65370850	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	agatacttcatgtttttcttAgatgcctttgagtaatggac	8	6	2	3			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:65370850A>G	ENST00000284037.5	+	23	4145		c.e23-1		ERBB2IP_ENST00000380938.2_Splice_Site|ERBB2IP_ENST00000416865.2_Splice_Site|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000380939.2_Splice_Site|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000511297.1_Splice_Site|ERBB2IP_ENST00000380936.1_Splice_Site|ERBB2IP_ENST00000380943.2_Splice_Site|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000506030.1_Splice_Site	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein						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)		TGTTTTTCTTAGATGCCTTTG	0.398																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.e23-1		erbb2 interacting protein							49	52	51					5																	65370850		2202	4300	6502	SO:0001630	splice_region_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65370850A>G		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.3757-1A>G	5.37:g.65370850A>G			Somatic				ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380938.2_Splice_Site|ERBB2IP_ENST00000380939.2_Splice_Site|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000511297.1_Splice_Site|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000416865.2_Splice_Site|ERBB2IP_ENST00000506030.1_Splice_Site|ERBB2IP_ENST00000380936.1_Splice_Site|ERBB2IP_ENST00000380943.2_Splice_Site		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)	23	4145	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)						A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Splice_Site	SNP	ENST00000284037.5	37		CCDS58953.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.953048	0.73902	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000512354	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3492	0.83195	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERBB2IP	65406606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.546000	0.90661	2.266000	0.75297	0.528000	0.53228	.		0.398	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	Intron	30	18	0	0	0	1	0	30	18					G	65370850	A	G	65370850	5	3	27	1	0	0	0	0	0	0	1	0	5209	434	15	4	3710	4	ERBB2IP	5	65370850	Splice_Site	SNP	A	TCGA-N8-A4PM-01A-11D-A28R-08	31712446	65370850	115544410	16	2662										
PCDHA6	56142	broad.mit.edu	37	chr5	140209120	140209120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	tcacggtgtctgcgcgagacGcggacgcgcaggagaacgcg	17	12	2	2			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:140209120G>A	ENST00000529310.1	+	1	1558	c.1444G>A	c.(1444-1446)Gcg>Acg	p.A482T	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A482T|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGAGACGCGGACGCGCA	0.657																																						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.(1444-1446)Gcg>Acg									48	55	52					5																	140209120		2202	4297	6499	SO:0001583	missense	0							g.chr5:140209120G>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.1444G>A	5.37:g.140209120G>A	ENSP00000433378:p.Ala482Thr		Somatic				PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A482T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.A482T	NM_018909.2|NM_031848.1|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	1558	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1444G>A	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	4.116	0.019741	0.08006	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01787	4.64;4.64	3.72	1.73	0.24493	Cadherin (4);Cadherin-like (1);	0.226336	0.21629	U	0.071513	T	0.03608	0.0103	M	0.75085	2.285	0.09310	N	1	B;B;B	0.31611	0.155;0.331;0.32	B;B;B	0.36885	0.148;0.235;0.117	T	0.18967	-1.0320	10	0.66056	D	0.02	.	8.9766	0.35939	0.0:0.1376:0.5817:0.2807	.	482;482;482	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	T	482	ENSP00000433378:A482T;ENSP00000434113:A482T	ENSP00000434113:A482T	A	+	1	0	PCDHA6	140189304	0.000000	0.05858	1.000000	0.80357	0.027000	0.11550	-0.387000	0.07361	0.903000	0.36546	-0.652000	0.03908	GCG		0.657	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		67	88	0	0	0	1	0	67	88					A	140209120	G	A	140209120	3	1	27	1	0	0	0	0	1	0	0	0	11537	1087	38	1	1446	1	PCDHA6	5	140209120	Missense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08	74838270	140209120	40706140	17	2663										
PCDHA7	56141	broad.mit.edu	37	chr5	140215891	140215891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	cgagccctagatgagacggaCgcaccgcgccaccgccttct	11	17	1	2			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:140215891C>T	ENST00000525929.1	+	1	1923	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.D641D|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	641	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)|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)			ATGAGACGGACGCACCGCGCC	0.662																																					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.(1921-1923)gaC>gaT									77	80	79					5																	140215891		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140215891C>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.1923C>T	5.37:g.140215891C>T			Somatic				PCDHA7_ENST00000378125.3_Silent_p.D641D|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.D641D	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	1923	+								O75282	Silent	SNP	ENST00000525929.1	37	c.1923C>T	CCDS54918.1																																																																																				0.662	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		30	117	0	0	0	1	0	30	117					T	140215891	C	T	140215891	2	4	27	1	0	0	0	0	0	0	0	1	11538	535	19	1		1	PCDHA7	5	140215891	Silent	SNP	C	TCGA-N8-A4PM-01A-11D-A28R-08	6771	140215891	40699369	18	2664										
HLA-C	3107	broad.mit.edu	37	chr6	31237836	31237836	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	gccagcaacgatgcccatgaTggggatggtgggctgggaag	18	8	0	1	rs281860578		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr6:31237836T>C	ENST00000376228.5	-	5	936	c.922A>G	c.(922-924)Atc>Gtc	p.I308V	HLA-C_ENST00000383329.3_Missense_Mutation_p.I308V	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	308	Connecting peptide.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						ATGCCCATGATGGGGATGGTG	0.612																																						ENST00000383329.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						c.(922-924)Atc>Gtc		major histocompatibility complex, class I, C							44	44	44					6																	31237836		2198	4295	6493	SO:0001583	missense	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31237836T>C	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.922A>G	6.37:g.31237836T>C	ENSP00000365402:p.Ile308Val		Somatic				HLA-C_ENST00000376228.5_Missense_Mutation_p.I308V	p.I308V			WXS	Illumina GAIIx	Phase_I	Q9TNN7	1C05_HUMAN			5	936	-			308			Connecting peptide.		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	c.922A>G	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	.	4.273	0.049833	0.08243	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	T;T	0.00768	5.72;5.74	2.67	0.0835	0.14433	Immunoglobulin-like fold (1);	.	.	.	.	T	0.00440	0.0014	L	0.53617	1.68	0.09310	N	1	B;B;B;P	0.35908	0.343;0.343;0.343;0.527	B;B;B;B	0.41946	0.158;0.112;0.158;0.371	T	0.45571	-0.9252	9	0.87932	D	0	.	2.8857	0.05660	0.0:0.1529:0.2649:0.5822	.	308;308;308;308	A2AEA4;A6H578;A2AEA2;P10321	.;.;.;1C07_HUMAN	V	308;308;308;345	ENSP00000365402:I308V;ENSP00000372819:I308V	ENSP00000365402:I308V	I	-	1	0	HLA-C	31345815	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	0.119000	0.15626	0.025000	0.15241	0.248000	0.18094	ATC		0.612	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		14	48	0	0	0	1	0	14	48					C	31237836	T	C	31237836	3	2	27	1	0	0	0	0	1	0	0	0	7206	1464	51	4	194	4	HLA-C	6	31237836	Missense_Mutation	SNP	T	TCGA-N8-A4PM-01A-11D-A28R-08		31237836	139877231	19	2665										
LRRC4	64101	broad.mit.edu	37	chr7	127670673	127670674	+	Frame_Shift_Ins	INS	-	-	A													0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	aggtgtggtggtgcacagttINSacctgccacaagagcttcat					rs201810875		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr7:127670673_127670674insA	ENST00000249363.3	-	2	277_278	c.20_21insT	c.(19-21)gtafs	p.V7fs	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	7					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGTGCACAGTTACCTGCCACAA	0.574																																						ENST00000249363.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26						c.(19-21)gacfs		leucine rich repeat containing 4																																				SO:0001589	frameshift_variant	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127670673_127670674insA	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"Immunoglobulin superfamily / I-set domain containing"	15586	protein-coding gene	gene with protein product		610486	"leucine-rich repeat-containing 4"			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.21dupT	7.37:g.127670674_127670674dupA	ENSP00000249363:p.Val7fs		Somatic				SND1_ENST00000354725.3_Intron	p.D7fs	NM_022143.4	NP_071426.1	WXS	Illumina GAIIx	Phase_I	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	277_278	-			7					A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Frame_Shift_Ins	INS	ENST00000249363.3	37	c.20_21insT	CCDS5799.1																																																																																				0.574	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		23	101						23	101	---	---	---	---	A	127670674	-	A	127670673	7	5	27	1	0	1	1	0	0	0	0	0	9006	1741	61	0	1944	0	LRRC4	7	127670673	Frame_Shift_Ins	INS	-	TCGA-N8-A4PM-01A-11D-A28R-08		127670673	31467990	20	2666										
TSPAN33	340348	broad.mit.edu	37	chr7	128806668	128806668	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	ggactggtctcagaacatgtAtttcaactgctcagaagaca	9	9	3	3			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr7:128806668A>T	ENST00000289407.4	+	6	618	c.509A>T	c.(508-510)tAt>tTt	p.Y170F	RP11-286H14.6_ENST00000498745.1_RNA|Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	170					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CAGAACATGTATTTCAACTGC	0.527																																						ENST00000289407.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(508-510)tAt>tTt		tetraspanin 33							270	241	251					7																	128806668		2203	4300	6503	SO:0001583	missense	340348					integral to membrane		g.chr7:128806668A>T		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"Tetraspanins"	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.509A>T	7.37:g.128806668A>T	ENSP00000289407:p.Tyr170Phe		Somatic					p.Y170F	NM_178562.3	NP_848657.1	WXS	Illumina GAIIx	Phase_I	Q86UF1	TSN33_HUMAN			6	618	+			170						Missense_Mutation	SNP	ENST00000289407.4	37	c.509A>T	CCDS5810.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.908417	0.92107	.	.	ENSG00000158457	ENST00000289407	T	0.79454	-1.27	5.79	5.79	0.91817	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.86636	0.5980	M	0.70842	2.15	0.80722	D	1	D	0.64830	0.994	D	0.72982	0.979	D	0.87391	0.2363	10	0.56958	D	0.05	-18.3869	14.0849	0.64949	1.0:0.0:0.0:0.0	.	170	Q86UF1	TSN33_HUMAN	F	170	ENSP00000289407:Y170F	ENSP00000289407:Y170F	Y	+	2	0	TSPAN33	128593904	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.796000	0.91877	2.208000	0.71279	0.533000	0.62120	TAT		0.527	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		103	73	0	0	0	1	0	103	73					T	128806668	A	T	128806668	3	4	27	1	0	0	0	0	1	0	0	0	16663	449	16	4	531	4	TSPAN33	7	128806668	Missense_Mutation	SNP	A	TCGA-N8-A4PM-01A-11D-A28R-08	1135995	128806668	30331995	21	2667										
KEL	3792	broad.mit.edu	37	chr7	142641781	142641781	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	ttcatccagggaaggtttctGaggcgagtgatgagggcatc	15	7	2	3			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr7:142641781G>A	ENST00000355265.2	-	12	1836	c.1362C>T	c.(1360-1362)ctC>ctT	p.L454L	KEL_ENST00000479768.2_5'Flank	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	454					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAAGGTTTCTGAGGCGAGTGA	0.602																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1360-1362)ctC>ctT		Kell blood group, metallo-endopeptidase							79	69	72					7																	142641781		2203	4300	6503	SO:0001819	synonymous_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142641781G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1362C>T	7.37:g.142641781G>A			Somatic					p.L454L	NM_000420.2	NP_000411.1	WXS	Illumina GAIIx	Phase_I	P23276	KELL_HUMAN			12	1836	-	Melanoma(164;0.059)		454					B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	c.1362C>T	CCDS34766.1																																																																																				0.602	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		8	21	0	0	0	1	0	8	21					A	142641781	G	A	142641781	2	1	27	1	0	0	0	0	0	0	0	1	8151	1277	45	3		3	KEL	7	142641781	Silent	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08	13835113	142641781	16496882	22	2668										
CCDC107	203260	broad.mit.edu	37	chr9	35660818	35660818	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	atccacgagctgctgcaagaTagcaagccggacaaggatat	11	10	0	1	rs533224381	byFrequency	TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr9:35660818T>C	ENST00000426546.2	+	5	552	c.486T>C	c.(484-486)gaT>gaC	p.D162D	ARHGEF39_ENST00000343259.3_3'UTR|RMRP_ENST00000602361.1_lincRNA|ARHGEF39_ENST00000378387.3_3'UTR|CCDC107_ENST00000327351.2_Nonstop_Mutation_p.*156Q|CCDC107_ENST00000378407.3_3'UTR|CCDC107_ENST00000378409.3_Silent_p.D162D|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378406.1_3'UTR|CCDC107_ENST00000421582.2_3'UTR|ARHGEF39_ENST00000490970.1_5'Flank	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	162						integral component of membrane (GO:0016021)				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCTGCAAGATAGCAAGCCGG	0.537													T|||	6	0.00119808	0	0	5008	,	,		20299	0		0	False		,,,				2504	0.0061					ENST00000327351.2																			0				endometrium(1)|lung(3)|skin(1)	5						c.(466-468)Tag>Cag		coiled-coil domain containing 107							126	136	132					9																	35660818		2203	4300	6503	SO:0001819	synonymous_variant	203260					integral to membrane		g.chr9:35660818T>C	AK075523	CCDS6583.1, CCDS56573.1, CCDS56574.1, CCDS56575.1	9q13.3	2008-02-05			ENSG00000159884	ENSG00000159884			28465	protein-coding gene	gene with protein product						12477932	Standard	NM_174923		Approved	MGC31967	uc011lox.2	Q8WV48	OTTHUMG00000019868	ENST00000426546.2:c.486T>C	9.37:g.35660818T>C			Somatic				ARHGEF39_ENST00000378387.3_3'UTR|CCDC107_ENST00000378406.1_3'UTR|CCDC107_ENST00000421582.2_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378407.3_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000426546.2_Silent_p.D162D|CCDC107_ENST00000378409.3_Silent_p.D162D	p.*156Q			WXS	Illumina GAIIx	Phase_I	Q8WV48	CC107_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	529	+	all_epithelial(49;0.217)		0					A6XND6|Q5T4R5|Q5T4R8|Q5T4R9|Q86VB6|Q8N2E4	Nonstop_Mutation	SNP	ENST00000426546.2	37	c.466T>C	CCDS6583.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.677291	0.00102	.	.	ENSG00000159884	ENST00000327351	.	.	.	5.23	-10.5	0.00291	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.3059	9.0245	0.36220	0.078:0.1288:0.6554:0.1377	.	.	.	.	Q	156	.	.	X	+	1	0	CCDC107	35650818	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.435000	0.02423	-2.476000	0.00526	-2.337000	0.00247	TAG		0.537	CCDC107-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052325.1	NM_174923		107	149	0	0	0	1	0	107	149					C	35660818	T	C	35660818	2	2	27	1	0	0	0	0	0	0	0	1	2744	1403	49	4		4	CCDC107	9	35660818	Silent	SNP	T	TCGA-N8-A4PM-01A-11D-A28R-08		35660818	105552613	23	2669										
ZCCHC6	79670	broad.mit.edu	37	chr9	88938512	88938512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	ctgagttttcagggtggacaCtgatgtgttcatttcccatt	10	8	2	2			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr9:88938512C>T	ENST00000375963.3	-	13	2325	c.2153G>A	c.(2152-2154)aGt>aAt	p.S718N	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.S718N|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.S7N|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.S595N	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	718					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						AGGGTGGACACTGATGTGTTC	0.413																																						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.(19-21)aGt>aAt		zinc finger, CCHC domain containing 6							149	142	144					9																	88938512		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88938512C>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.2153G>A	9.37:g.88938512C>T	ENSP00000365130:p.Ser718Asn		Somatic				ZCCHC6_ENST00000375963.3_Missense_Mutation_p.S718N|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.S718N|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.S595N	p.S7N			WXS	Illumina GAIIx	Phase_I	Q5VYS8	TUT7_HUMAN			14	2444	-			718					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.20G>A	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	6.375	0.437221	0.12104	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375963	T;T;T;T	0.55413	0.52;0.95;0.95;0.95	5.42	1.15	0.20763	.	1.081970	0.06890	N	0.804111	T	0.34193	0.0889	N	0.14661	0.345	0.09310	N	1	B;B	0.24823	0.023;0.112	B;B	0.21151	0.033;0.016	T	0.27806	-1.0063	10	0.48119	T	0.1	-16.5661	6.7885	0.23687	0.1195:0.5711:0.2431:0.0663	.	595;718	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	N	7;595;718;718	ENSP00000277141:S7N;ENSP00000365127:S595N;ENSP00000365128:S718N;ENSP00000365130:S718N	ENSP00000277141:S7N	S	-	2	0	ZCCHC6	88128332	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	0.031000	0.13710	0.366000	0.24427	0.650000	0.86243	AGT		0.413	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		22	68	0	0	0	1	0	22	68					T	88938512	C	T	88938512	3	4	27	1	0	0	0	0	1	0	0	0	17607	565	20	3	2394	3	ZCCHC6	9	88938512	Missense_Mutation	SNP	C	TCGA-N8-A4PM-01A-11D-A28R-08	53277694	88938512	52274919	24	2670										
AGAP4	119016	broad.mit.edu	37	chr10	46322004	46322004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	cacacagtgggcgttcccacGcatgttttggatcgactgca	11	12	0	0			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:46322004G>A	ENST00000448048.2	-	7	1476	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	AGAP4_ENST00000430779.2_5'Flank	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	451	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(1)|lung(1)|ovary(1)	3						GCGTTCCCACGCATGTTTTGG	0.557																																						ENST00000448048.2																			0				central_nervous_system(1)|lung(1)|ovary(1)	3						c.(1351-1353)Cgt>Tgt		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4							15	15	15					10																	46322004		1934	3719	5653	SO:0001583	missense	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46322004G>A	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23459	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 1", "ArfGAP with GTPase domain, ankyrin repeat and PH domain 8", "centaurin, gamma-like family, member 5"	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.1351C>T	10.37:g.46322004G>A	ENSP00000392513:p.Arg451Cys		Somatic					p.R451C	NM_133446.2	NP_597703.2	WXS	Illumina GAIIx	Phase_I	Q96P64	AGAP4_HUMAN			7	1476	-			451			Arf-GAP.			Missense_Mutation	SNP	ENST00000448048.2	37	c.1351C>T	CCDS7215.1	.	.	.	.	.	.	.	.	.	.	g	10.06	1.247951	0.22880	.	.	ENSG00000188234	ENST00000448048;ENST00000342551	T	0.43688	0.94	.	.	.	.	0.159903	0.39210	N	0.001428	T	0.51092	0.1654	M	0.69358	2.11	0.39653	D	0.970497	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.98;0.964;0.99	T	0.51601	-0.8685	9	0.66056	D	0.02	.	4.5974	0.12336	0.3343:0.0:0.6657:0.0	.	474;519;451	C9JRW4;Q5VTM2;Q96P64	.;AGAP9_HUMAN;AGAP4_HUMAN	C	451;227	ENSP00000392513:R451C	ENSP00000343438:R227C	R	-	1	0	AGAP4	45642010	0.000000	0.05858	0.032000	0.17829	0.033000	0.12548	0.097000	0.15168	-1.657000	0.01492	-1.643000	0.00768	CGT		0.557	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		26	149	0	0	0	1	0	26	149					A	46322004	G	A	46322004	3	1	27	1	0	0	0	0	1	0	0	0	370	1087	38	1	644	1	AGAP4	10	46322004	Missense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08		46322004	89212743	25	2671										
CAMK2G	818	broad.mit.edu	37	chr10	75597241	75597241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	cttaccttgacaccgccatcCgacttcttgttcaataggct	6	14	2	1			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:75597241C>T	ENST00000444854.2	-	6	496	c.376G>A	c.(376-378)Gga>Aga	p.G126R	CAMK2G_ENST00000423381.1_Silent_p.S346S|CAMK2G_ENST00000372765.1_Silent_p.S346S|CAMK2G_ENST00000394762.2_Silent_p.S325S|CAMK2G_ENST00000322635.3_Silent_p.S346S|CAMK2G_ENST00000351293.3_Silent_p.S325S|CAMK2G_ENST00000322680.3_Silent_p.S325S|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000305762.7_Silent_p.S325S			Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	CACCGCCATCCGACTTCTTGT	0.522																																						ENST00000444854.2																			0				kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15						c.(376-378)Gga>Aga		calcium/calmodulin-dependent protein kinase II gamma							229	218	222					10																	75597241		2203	4300	6503	SO:0001583	missense	818				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:75597241C>T	U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000444854.2:c.376G>A	10.37:g.75597241C>T	ENSP00000399680:p.Gly126Arg		Somatic				CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000322680.3_Silent_p.S325S|CAMK2G_ENST00000423381.1_Silent_p.S346S|CAMK2G_ENST00000394762.2_Silent_p.S325S|CAMK2G_ENST00000372765.1_Silent_p.S346S|CAMK2G_ENST00000351293.3_Silent_p.S325S|CAMK2G_ENST00000322635.3_Silent_p.S346S|CAMK2G_ENST00000305762.7_Silent_p.S325S	p.G126R			WXS	Illumina GAIIx	Phase_I	Q13555	KCC2G_HUMAN			6	496	-	Prostate(51;0.0112)		0			Protein kinase.		O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Missense_Mutation	SNP	ENST00000444854.2	37	c.376G>A		.	.	.	.	.	.	.	.	.	.	C	10.14	1.267172	0.23136	.	.	ENSG00000148660	ENST00000441192;ENST00000444854	T	0.72282	-0.64	5.99	-10.9	0.00192	.	.	.	.	.	T	0.45034	0.1322	.	.	.	0.20196	N	0.999925	.	.	.	.	.	.	T	0.23762	-1.0179	5	.	.	.	.	3.5582	0.07871	0.1623:0.3836:0.0819:0.3723	.	.	.	.	R	104;126	ENSP00000399680:G126R	.	G	-	1	0	CAMK2G	75267247	0.000000	0.05858	0.734000	0.30879	0.884000	0.51177	-3.471000	0.00460	-1.703000	0.01409	-0.982000	0.02568	GGA		0.522	CAMK2G-204	KNOWN	basic	protein_coding	protein_coding		NM_172169		134	102	0	0	0	1	0	134	102					T	75597241	C	T	75597241	3	4	27	1	0	0	0	0	1	0	0	0	2604	639	23	1	764	1	CAMK2G	10	75597241	Missense_Mutation	SNP	C	TCGA-N8-A4PM-01A-11D-A28R-08	29275237	75597241	59937506	26	2672										
C10orf58	84293	broad.mit.edu	37	chr10	82187209	82187209	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	tggaaacctggaaggagaagGcttcatccttgggggagttt	15	6	1	1	rs142605674		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:82187209G>T	ENST00000372181.1	+	4	1003	c.533G>T	c.(532-534)gGc>gTc	p.G178V	FAM213A_ENST00000372188.1_Missense_Mutation_p.G178V|FAM213A_ENST00000372187.5_Missense_Mutation_p.G178V|FAM213A_ENST00000372185.1_Missense_Mutation_p.G167V	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	178					oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)										GAAGGAGAAGGCTTCATCCTT	0.507																																						ENST00000372181.1																			0											c.(532-534)gGc>gTc		family with sequence similarity 213, member A		G	VAL/GLY	1,4405	2.1+/-5.4	0,1,2202	123	105	111		533	6	1	10	dbSNP_134	111	0,8600		0,0,4300	no	missense	C10orf58	NM_032333.4	109	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	178/230	82187209	1,13005	2203	4300	6503	SO:0001583	missense	84293					extracellular region		g.chr10:82187209G>T	AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"		"chromosome 10 open reading frame 58"	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.533G>T	10.37:g.82187209G>T	ENSP00000361254:p.Gly178Val		Somatic				FAM213A_ENST00000372187.5_Missense_Mutation_p.G178V|FAM213A_ENST00000372185.1_Missense_Mutation_p.G167V|FAM213A_ENST00000372188.1_Missense_Mutation_p.G178V	p.G178V	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	WXS	Illumina GAIIx	Phase_I	Q9BRX8	CJ058_HUMAN			4	1003	+			178					B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Missense_Mutation	SNP	ENST00000372181.1	37	c.533G>T	CCDS7368.1	.	.	.	.	.	.	.	.	.	.	G	32	5.105552	0.94245	2.27E-4	0.0	ENSG00000122378	ENST00000372188;ENST00000372187;ENST00000372185;ENST00000372181	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67810	-0.5574	10	0.31617	T	0.26	0.2543	17.9177	0.88957	0.0:0.0:1.0:0.0	.	178	Q9BRX8	PAMM_HUMAN	V	178;178;167;178	ENSP00000361262:G178V;ENSP00000361261:G178V;ENSP00000361259:G167V;ENSP00000361254:G178V	ENSP00000361254:G178V	G	+	2	0	C10orf58	82177189	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.447000	0.97595	2.828000	0.97474	0.655000	0.94253	GGC		0.507	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2			13	31	1	0	0.00136819	1	0.00138668	13	31					T	82187209	G	T	82187209	3	4	27	1	0	0	0	0	1	0	0	0	1612	1203	42	5	547	5	C10orf58	10	82187209	Missense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08	6589968	82187209	53347538	27	2673										
TACC2	10579	broad.mit.edu	37	chr10	123844141	123844141	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	gagcagggaaggattgggaaGaatggagtctttcctgactt	15	5	1	2			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:123844141G>T	ENST00000369005.1	+	4	2466	c.2126G>T	c.(2125-2127)aGa>aTa	p.R709I	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.R709I|TACC2_ENST00000453444.2_Missense_Mutation_p.R709I|TACC2_ENST00000515603.1_Missense_Mutation_p.R709I|TACC2_ENST00000515273.1_Missense_Mutation_p.R709I|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	709					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)				GGATTGGGAAGAATGGAGTCT	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.(2125-2127)aGa>aTa		transforming, acidic coiled-coil containing protein 2							48	53	51					10																	123844141		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844141G>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.2126G>T	10.37:g.123844141G>T	ENSP00000358001:p.Arg709Ile		Somatic				TACC2_ENST00000515603.1_Missense_Mutation_p.R709I|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.R709I|TACC2_ENST00000453444.2_Missense_Mutation_p.R709I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.R709I	p.R709I	NM_206862.2	NP_996744.2	WXS	Illumina GAIIx	Phase_I	O95359	TACC2_HUMAN			4	2466	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	709					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.2126G>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836653	0.50951	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03745	3.87;3.83;3.82;3.87;3.83	4.59	0.122	0.14702	.	1.377760	0.05162	N	0.497932	T	0.02727	0.0082	L	0.29908	0.895	0.09310	N	1	P;P;P	0.42620	0.785;0.785;0.785	B;B;B	0.34452	0.183;0.183;0.183	T	0.35624	-0.9781	10	0.66056	D	0.02	1.9328	1.3978	0.02264	0.1924:0.3096:0.3321:0.1659	.	709;709;709	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	I	709;709;709;709;709;699	ENSP00000358001:R709I;ENSP00000424467:R709I;ENSP00000427618:R709I;ENSP00000334280:R709I;ENSP00000395048:R709I	ENSP00000334280:R709I	R	+	2	0	TACC2	123834131	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	-0.128000	0.10531	-0.291000	0.09012	0.561000	0.74099	AGA		0.527	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			31	20	1	0	3.80469e-20	1	4.32352e-20	31	20					T	123844141	G	T	123844141	3	4	27	1	0	0	0	0	1	0	0	0	15517	942	33	2	2136	2	TACC2	10	123844141	Missense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08	41656932	123844141	11690606	28	2674										
CYP2E1	1571	broad.mit.edu	37	chr10	135346210	135346210	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	ctctagctttacaataatttTcccagctttctacactactt	2	12	2	0			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:135346210T>C	ENST00000463117.2	+	7	935	c.663T>C	c.(661-663)ttT>ttC	p.F221F	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Silent_p.F221F			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	221					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ACAATAATTTTCCCAGCTTTC	0.378									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000463117.2																			0				NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(661-663)ttT>ttC		cytochrome P450, family 2, subfamily E, polypeptide 1	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						133	148	143					10																	135346210		2203	4300	6503	SO:0001819	synonymous_variant	1571	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135346210T>C	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"Cytochrome P450s"	2631	protein-coding gene	gene with protein product		124040	"cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.663T>C	10.37:g.135346210T>C			Somatic				CYP2E1_ENST00000252945.3_Silent_p.F221F|SPRN_ENST00000541506.1_Intron	p.F221F			WXS	Illumina GAIIx	Phase_I	P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	7	935	+		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)	221					Q5VZD5|Q6NWT9|Q9UK47	Silent	SNP	ENST00000463117.2	37	c.663T>C	CCDS7686.1																																																																																				0.378	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		5	154	0	0	0	1	0	5	154					C	135346210	T	C	135346210	2	2	27	1	0	0	0	0	0	0	0	1	4172	1780	62	4		4	CYP2E1	10	135346210	Silent	SNP	T	TCGA-N8-A4PM-01A-11D-A28R-08	11502069	135346210	188537	29	2675										
DEPDC7	91614	broad.mit.edu	37	chr11	33047304	33047304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	agtgaaaaaacgaaggcaccGtttaaaacgacataatgact	8	7	0	2	rs552446140		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:33047304G>A	ENST00000241051.3	+	2	265	c.173G>A	c.(172-174)cGt>cAt	p.R58H	DEPDC7_ENST00000311388.3_Missense_Mutation_p.R49H	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	58	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						CGAAGGCACCGTTTAAAACGA	0.393													G|||	1	0.000199681	8e-04	0	5008	,	,		21326	0		0	False		,,,				2504	0					ENST00000311388.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(145-147)cGt>cAt		DEP domain containing 7							179	169	172					11																	33047304		1909	4129	6038	SO:0001583	missense	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33047304G>A		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.173G>A	11.37:g.33047304G>A	ENSP00000241051:p.Arg58His		Somatic				DEPDC7_ENST00000241051.3_Missense_Mutation_p.R58H	p.R49H	NM_139160.2	NP_631899.2	WXS	Illumina GAIIx	Phase_I	Q96QD5	DEPD7_HUMAN			2	522	+			58			DEP.		G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	c.146G>A	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	G	5.727	0.318651	0.10845	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.11604	2.76;2.76	6.04	2.32	0.28847	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.188665	0.56097	N	0.000030	T	0.02533	0.0077	N	0.00746	-1.225	0.26132	N	0.980408	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	0.46498	-0.9187	10	0.02654	T	1	-5.4554	9.5903	0.39541	0.8025:0.0:0.1975:0.0	.	58;58;49;58	B4DJ78;B4DH51;G5E941;Q96QD5	.;.;.;DEPD7_HUMAN	H	58;49	ENSP00000241051:R58H;ENSP00000308971:R49H	ENSP00000241051:R58H	R	+	2	0	DEPDC7	33003880	1.000000	0.71417	0.704000	0.30370	0.976000	0.68499	5.045000	0.64220	0.182000	0.20032	-0.459000	0.05422	CGT		0.393	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		57	42	0	0	0	1	0	57	42					A	33047304	G	A	33047304	3	1	27	1	0	0	0	0	1	0	0	0	4446	1145	40	1	229	1	DEPDC7	11	33047304	Missense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08		33047304	101959212	30	2676										
OR4A16	81327	broad.mit.edu	37	chr11	55110833	55110833	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	ctactattggcagcccctccTtgggctccctaatgtacttc	7	15	0	0			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:55110833T>C	ENST00000314721.2	+	1	207	c.157T>C	c.(157-159)Ttg>Ctg	p.L53L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L53V(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						CAGCCCCTCCTTGGGCTCCCT	0.408																																						ENST00000314721.2																			1	Substitution - Missense(1)	p.L53V(1)	lung(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.(157-159)Ttg>Ctg		olfactory receptor, family 4, subfamily A, member 16							124	120	121					11																	55110833		2201	4296	6497	SO:0001819	synonymous_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110833T>C	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.157T>C	11.37:g.55110833T>C			Somatic					p.L53L	NM_001005274.1	NP_001005274.1	WXS	Illumina GAIIx	Phase_I	Q8NH70	O4A16_HUMAN			1	207	+			53					Q6IFL3	Silent	SNP	ENST00000314721.2	37	c.157T>C	CCDS31499.1																																																																																				0.408	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		29	103	0	0	0	1	0	29	103					C	55110833	T	C	55110833	2	2	27	1	0	0	0	0	0	0	0	1	11050	1606	56	4		4	OR4A16	11	55110833	Silent	SNP	T	TCGA-N8-A4PM-01A-11D-A28R-08	22063529	55110833	79895683	31	2677										
AHNAK	79026	broad.mit.edu	37	chr11	62293943	62293943	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	ggccctctcctttgaagccaGgcatgctgaactttggcatt	10	12	1	2			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:62293943G>T	ENST00000378024.4	-	5	8220	c.7946C>A	c.(7945-7947)cCt>cAt	p.P2649H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2649					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)				TTTGAAGCCAGGCATGCTGAA	0.527																																						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.(7945-7947)cCt>cAt		AHNAK nucleoprotein							187	188	188					11																	62293943		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62293943G>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.7946C>A	11.37:g.62293943G>T	ENSP00000367263:p.Pro2649His		Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P2649H	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	8220	-		Melanoma(852;0.155)	2649					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7946C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	17.92	3.505910	0.64410	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.03035	4.07	4.31	4.31	0.51392	.	.	.	.	.	T	0.29126	0.0724	H	0.95470	3.675	0.29387	N	0.862907	D	0.89917	1.0	D	0.91635	0.999	T	0.43877	-0.9364	9	0.87932	D	0	-4.8802	16.4116	0.83717	0.0:0.0:1.0:0.0	.	2649	Q09666	AHNK_HUMAN	H	738;2649	ENSP00000367263:P2649H	ENSP00000244934:P738H	P	-	2	0	AHNAK	62050519	.	.	1.000000	0.80357	0.978000	0.69477	.	.	1.950000	0.56595	0.479000	0.44913	CCT		0.527	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		49	240	1	0	7.88023e-25	1	9.09257e-25	49	240					T	62293943	G	T	62293943	3	4	27	1	0	0	0	0	1	0	0	0	414	1000	35	5	9846	5	AHNAK	11	62293943	Missense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08	7183110	62293943	72712573	32	2678										
CCDC88B	283234	broad.mit.edu	37	chr11	64111779	64111779	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	tgtggagacacaggagtcccCggagaaggctggccgtagat	16	9	0	3	rs201313417	byFrequency	TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:64111779C>A	ENST00000356786.5	+	14	1810	c.1766C>A	c.(1765-1767)cCg>cAg	p.P589Q	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	589						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGGAGTCCCCGGAGAAGGCT	0.647																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1765-1767)cCg>cAg		coiled-coil domain containing 88B							35	40	38					11																	64111779		2201	4297	6498	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64111779C>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1766C>A	11.37:g.64111779C>A	ENSP00000349238:p.Pro589Gln		Somatic				CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	p.P589Q	NM_032251.5	NP_115627.6	WXS	Illumina GAIIx	Phase_I	A6NC98	CC88B_HUMAN			14	1810	+			589					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.1766C>A	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	N	9.658	1.143492	0.21205	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.21734	1.99	3.78	-7.36	0.01417	.	.	.	.	.	T	0.08044	0.0201	N	0.19112	0.55	0.09310	N	0.999999	P;B;P	0.44776	0.843;0.337;0.843	B;B;B	0.40134	0.32;0.054;0.32	T	0.26258	-1.0108	9	0.13853	T	0.58	.	2.523	0.04684	0.1325:0.392:0.2684:0.2072	.	589;238;589	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	Q	589	ENSP00000349238:P589Q	ENSP00000349238:P589Q	P	+	2	0	CCDC88B	63868355	0.000000	0.05858	0.000000	0.03702	0.414000	0.31173	-1.592000	0.02098	-0.927000	0.03766	-0.714000	0.03626	CCG		0.647	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		47	51	1	0	6.4771e-29	1	7.71083e-29	47	51					A	64111779	C	A	64111779	3	1	27	1	0	0	0	0	1	0	0	0	2866	652	23	5	1820	5	CCDC88B	11	64111779	Missense_Mutation	SNP	C	TCGA-N8-A4PM-01A-11D-A28R-08	1817836	64111779	70894737	33	2679										
CATSPER1	117144	broad.mit.edu	37	chr11	65792758	65792758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	gcggattgtgctggaggaccGagtcatgctgtgagccgagc	17	9	1	1	rs200189507	byFrequency	TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:65792758G>A	ENST00000312106.5	-	1	1230	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	365					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						CTGGAGGACCGAGTCATGCTG	0.567													G|||	2	0.000399361	0.0015	0	5008	,	,		19342	0		0	False		,,,				2504	0					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.(1093-1095)Cgg>Tgg		cation channel, sperm associated 1							131	107	115					11																	65792758		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65792758G>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.1093C>T	11.37:g.65792758G>A	ENSP00000309052:p.Arg365Trp		Somatic					p.R365W	NM_053054.3	NP_444282.3	WXS	Illumina GAIIx	Phase_I	Q8NEC5	CTSR1_HUMAN			1	1230	-			365					Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.1093C>T	CCDS8127.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.49	2.550826	0.45383	.	.	ENSG00000175294	ENST00000312106	D	0.97575	-4.44	2.63	2.63	0.31362	.	.	.	.	.	D	0.96358	0.8812	L	0.53249	1.67	0.09310	N	1	D	0.69078	0.997	P	0.53490	0.727	D	0.90815	0.4704	9	0.62326	D	0.03	-0.9363	8.9264	0.35643	0.0:0.0:1.0:0.0	.	365	Q8NEC5	CTSR1_HUMAN	W	365	ENSP00000309052:R365W	ENSP00000309052:R365W	R	-	1	2	CATSPER1	65549334	0.002000	0.14202	0.002000	0.10522	0.008000	0.06430	0.788000	0.26872	1.799000	0.52666	0.460000	0.39030	CGG		0.567	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		34	40	0	0	0	1	0	34	40					A	65792758	G	A	65792758	3	1	27	1	0	0	0	0	1	0	0	0	2689	1057	37	1	1297	1	CATSPER1	11	65792758	Missense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08	1680979	65792758	69213758	34	2680										
C11orf30	56946	broad.mit.edu	37	chr11	76234280	76234280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	aaagactacaggaaaaggaaCgaccattcaaggcctcccgg	10	11	1	1			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:76234280C>T	ENST00000529032.1	+	11	1766	c.1766C>T	c.(1765-1767)aCg>aTg	p.T589M	C11orf30_ENST00000334736.3_Missense_Mutation_p.T589M|C11orf30_ENST00000525919.1_Missense_Mutation_p.T590M|C11orf30_ENST00000524767.1_Missense_Mutation_p.T604M|C11orf30_ENST00000524490.1_Missense_Mutation_p.T505M|C11orf30_ENST00000533248.1_Missense_Mutation_p.T603M|C11orf30_ENST00000525038.1_Missense_Mutation_p.T604M|C11orf30_ENST00000343878.3_Missense_Mutation_p.T589M			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	589	Thr-rich.				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						GGAAAAGGAACGACCATTCAA	0.438																																						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.(1765-1767)aCg>aTg		chromosome 11 open reading frame 30							110	101	104					11																	76234280		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76234280C>T	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.1766C>T	11.37:g.76234280C>T	ENSP00000432327:p.Thr589Met		Somatic				C11orf30_ENST00000334736.3_Missense_Mutation_p.T589M|C11orf30_ENST00000524767.1_Missense_Mutation_p.T604M|C11orf30_ENST00000343878.3_Missense_Mutation_p.T589M|C11orf30_ENST00000525919.1_Missense_Mutation_p.T590M|C11orf30_ENST00000524490.1_Missense_Mutation_p.T505M|C11orf30_ENST00000525038.1_Missense_Mutation_p.T604M|C11orf30_ENST00000533248.1_Missense_Mutation_p.T603M	p.T589M			WXS	Illumina GAIIx	Phase_I	Q7Z589	EMSY_HUMAN			11	1766	+			589			Thr-rich.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.1766C>T	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000463	0.74818	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.43	5.43	0.79202	.	0.096393	0.64402	D	0.000001	T	0.62356	0.2421	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999	P;P;P;P;P;P	0.57846	0.828;0.762;0.762;0.826;0.828;0.826	T	0.63664	-0.6586	9	0.48119	T	0.1	-4.2025	19.2358	0.93858	0.0:1.0:0.0:0.0	.	603;604;604;590;505;589	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	M	505;589;589;604;603;590;604;589	.	ENSP00000334130:T589M	T	+	2	0	C11orf30	75911928	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.554000	0.86153	0.655000	0.94253	ACG		0.438	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		35	40	0	0	0	1	0	35	40					T	76234280	C	T	76234280	3	4	27	1	0	0	0	0	1	0	0	0	1638	536	19	1	1808	1	C11orf30	11	76234280	Missense_Mutation	SNP	C	TCGA-N8-A4PM-01A-11D-A28R-08	10441522	76234280	58772236	35	2681										
CTSC	1075	broad.mit.edu	37	chr11	88027241	88027241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	cacactcatcagttcctctgCggatccggaagtagccattc	8	14	3	0			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:88027241C>T	ENST00000227266.5	-	7	1439	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	442					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)				AGTTCCTCTGCGGATCCGGAA	0.498																																						ENST00000227266.5																			0				large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22						c.(1324-1326)cGc>cAc		cathepsin C							84	77	80					11																	88027241		2201	4299	6500	SO:0001583	missense	1075				immune response	lysosome	cysteine-type endopeptidase activity	g.chr11:88027241C>T	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.1325G>A	11.37:g.88027241C>T	ENSP00000227266:p.Arg442His		Somatic					p.R442H	NM_001814.4	NP_001805.3	WXS	Illumina GAIIx	Phase_I	P53634	CATC_HUMAN			7	1439	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	442					A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	ENST00000227266.5	37	c.1325G>A	CCDS8282.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609178	0.87258	.	.	ENSG00000109861	ENST00000393302;ENST00000227266	D	0.84223	-1.82	5.97	1.67	0.24075	Peptidase C1A, papain C-terminal (2);	0.094127	0.85682	D	0.000000	D	0.89808	0.6822	M	0.67517	2.055	0.80722	D	1	D;D	0.89917	0.999;1.0	D;P	0.65233	0.933;0.881	D	0.88794	0.3280	9	.	.	.	.	15.6124	0.76737	0.4648:0.5352:0.0:0.0	.	425;442	B4DJQ8;P53634	.;CATC_HUMAN	H	425;442	ENSP00000227266:R442H	.	R	-	2	0	CTSC	87666889	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	2.189000	0.42621	0.360000	0.24265	0.655000	0.94253	CGC		0.498	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		36	46	0	0	0	1	0	36	46					T	88027241	C	T	88027241	3	4	27	1	0	0	0	0	1	0	0	0	4033	768	27	1	70	1	CTSC	11	88027241	Missense_Mutation	SNP	C	TCGA-N8-A4PM-01A-11D-A28R-08	11792961	88027241	46979275	36	2682										
FAT3	120114	broad.mit.edu	37	chr11	92531160	92531160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	ctgcaattgtgcgcatttccGtcaccatgtctgacaattct	7	12	3	1	rs374952944		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:92531160G>A	ENST00000298047.6	+	9	4998	c.4981G>A	c.(4981-4983)Gtc>Atc	p.V1661I	FAT3_ENST00000525166.1_Missense_Mutation_p.V1511I|FAT3_ENST00000409404.2_Missense_Mutation_p.V1661I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1661	Cadherin 15. {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)				GCGCATTTCCGTCACCATGTC	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.(4981-4983)Gtc>Atc		FAT atypical cadherin 3		G	ILE/VAL	1,3983		0,1,1991	107	106	106		4981	4.9	1	11		106	2,8322		0,2,4160	no	missense	FAT3	NM_001008781.2	29	0,3,6151	AA,AG,GG		0.024,0.0251,0.0244	benign	1661/4558	92531160	3,12305	1992	4162	6154	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531160G>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.4981G>A	11.37:g.92531160G>A	ENSP00000298047:p.Val1661Ile	TCGA Ovarian(4;0.039)	Somatic				FAT3_ENST00000409404.2_Missense_Mutation_p.V1661I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1511I	p.V1661I			WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			9	4998	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1661			Cadherin 15.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4981G>A		.	.	.	.	.	.	.	.	.	.	G	14.66	2.602742	0.46423	2.51E-4	2.4E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.61510	0.1;0.1;0.1	5.83	4.91	0.64330	.	.	.	.	.	T	0.46171	0.1379	L	0.46741	1.465	0.80722	D	1	B	0.19706	0.038	B	0.12156	0.007	T	0.33954	-0.9848	9	0.17832	T	0.49	.	9.0225	0.36209	0.0748:0.0:0.7781:0.1471	.	1661	Q8TDW7-3	.	I	1661;1661;1511	ENSP00000298047:V1661I;ENSP00000387040:V1661I;ENSP00000432586:V1511I	ENSP00000298047:V1661I	V	+	1	0	FAT3	92170808	1.000000	0.71417	0.996000	0.52242	0.938000	0.57974	4.721000	0.61951	1.452000	0.47756	0.591000	0.81541	GTC		0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		22	66	0	0	0	1	0	22	66					A	92531160	G	A	92531160	3	1	27	1	0	0	0	0	1	0	0	0	5699	1145	40	1	5015	1	FAT3	11	92531160	Missense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08	4503919	92531160	42475356	37	2683										
CHD4	1108	broad.mit.edu	37	chr12	6700638	6700638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	tccttctctctcaccattgaAgcggtcaatggcctcttgcc	7	15	4	1			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr12:6700638A>G	ENST00000357008.2	-	22	3497	c.3334T>C	c.(3334-3336)Ttc>Ctc	p.F1112L	CHD4_ENST00000544040.1_Missense_Mutation_p.F1105L|CHD4_ENST00000544484.1_Missense_Mutation_p.F1109L|CHD4_ENST00000309577.6_Missense_Mutation_p.F1112L	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1112	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						TCACCATTGAAGCGGTCAATG	0.433																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(3334-3336)Ttc>Ctc		chromodomain helicase DNA binding protein 4							148	126	133					12																	6700638		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.chr12:6700638A>G	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.3334T>C	12.37:g.6700638A>G	ENSP00000349508:p.Phe1112Leu		Somatic				CHD4_ENST00000357008.2_Missense_Mutation_p.F1112L|CHD4_ENST00000544484.1_Missense_Mutation_p.F1109L|CHD4_ENST00000544040.1_Missense_Mutation_p.F1105L	p.F1112L			WXS	Illumina GAIIx	Phase_I	Q14839	CHD4_HUMAN			22	3497	-			1112			Helicase C-terminal.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3334T>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172337	0.78452	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.15	5.15	0.70609	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95950	0.8681	H	0.94503	3.545	0.80722	D	1	D;D;P	0.76494	0.992;0.999;0.954	D;D;D	0.85130	0.984;0.997;0.943	D	0.97134	0.9820	10	0.87932	D	0	.	14.9841	0.71332	1.0:0.0:0.0:0.0	.	1112;1112;1105	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	L	1109;1105;1112;1112;1086	ENSP00000440392:F1109L;ENSP00000440542:F1105L;ENSP00000312419:F1112L;ENSP00000349508:F1112L	ENSP00000312419:F1112L	F	-	1	0	CHD4	6570899	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.117000	0.94347	1.951000	0.56629	0.533000	0.62120	TTC		0.433	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		32	33	0	0	0	1	0	32	33					G	6700638	A	G	6700638	3	3	27	1	0	0	0	0	1	0	0	0	3329	72	3	4	2480	4	CHD4	12	6700638	Missense_Mutation	SNP	A	TCGA-N8-A4PM-01A-11D-A28R-08		6700638	127151257	38	2684										
RARG	5916	broad.mit.edu	37	chr12	53606944	53606944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	gtagggctggctgggccgccGgcgccgggcgtacagcctca	18	14	1	0	rs143739684		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr12:53606944G>A	ENST00000425354.2	-	9	1589	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	RARG_ENST00000543726.1_Missense_Mutation_p.R346W|RARG_ENST00000394426.1_Missense_Mutation_p.R368W|RARG_ENST00000338561.5_Missense_Mutation_p.R357W|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.R296W	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	368	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	CTGGGCCGCCGGCGCCGGGCG	0.602											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1102-1104)Cgg>Tgg		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	49	48	48		1102,1069	3.5	1	12	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RARG	NM_000966.5,NM_001042728.2	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	368/455,357/444	53606944	1,13005	2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53606944G>A	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"Nuclear hormone receptors"	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.1102C>T	12.37:g.53606944G>A	ENSP00000388510:p.Arg368Trp		Somatic	OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_ENST00000327550.3_Missense_Mutation_p.R296W|RARG_ENST00000338561.5_Missense_Mutation_p.R357W|RARG_ENST00000543726.1_Missense_Mutation_p.R346W|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.R368W	p.R368W	NM_000966.5	NP_000957.1	WXS	Illumina GAIIx	Phase_I	P13631	RARG_HUMAN			9	1589	-			368			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.1102C>T	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378683	0.82682	0.0	1.16E-4	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726	D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14	5.42	3.48	0.39840	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97996	0.9340	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;0.998;1.0	D	0.98083	1.0405	10	0.87932	D	0	.	9.3046	0.37867	0.0776:0.0:0.7781:0.1443	.	346;368;357	B7Z4F1;P13631;F1D8P1	.;RARG_HUMAN;.	W	368;368;296;357;346	ENSP00000388510:R368W;ENSP00000377947:R368W;ENSP00000332695:R296W;ENSP00000343698:R357W;ENSP00000444335:R346W	ENSP00000332695:R296W	R	-	1	2	RARG	51893211	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	3.268000	0.51585	1.439000	0.47511	-0.251000	0.11542	CGG		0.602	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		44	58	0	0	0	1	0	44	58					A	53606944	G	A	53606944	3	1	27	1	0	0	0	0	1	0	0	0	13069	1115	39	1	270	1	RARG	12	53606944	Missense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08	46906306	53606944	80244951	39	2685										
MYF5	4617	broad.mit.edu	37	chr12	81111292	81111292	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	aactactatagcctgccgggAcagagctgctcggagcccac	11	14	0	1			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr12:81111292A>T	ENST00000228644.3	+	1	602	c.450A>T	c.(448-450)ggA>ggT	p.G150G		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	150					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						GCCTGCCGGGACAGAGCTGCT	0.557																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(448-450)ggA>ggT		myogenic factor 5							122	131	128					12																	81111292		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.chr12:81111292A>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.450A>T	12.37:g.81111292A>T			Somatic					p.G150G	NM_005593.2	NP_005584.2	WXS	Illumina GAIIx	Phase_I	P13349	MYF5_HUMAN			1	602	+			150					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.450A>T	CCDS9020.1																																																																																				0.557	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		93	137	0	0	0	1	0	93	137					T	81111292	A	T	81111292	2	4	27	1	0	0	0	0	0	0	0	1	10036	262	10	4		4	MYF5	12	81111292	Silent	SNP	A	TCGA-N8-A4PM-01A-11D-A28R-08	27504348	81111292	52740603	40	2686										
DCLK1	9201	broad.mit.edu	37	chr13	36686233	36686233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	gcttcctttggcagtggccaGtgaagacactgcccgagaag	13	11	0	3			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr13:36686233G>A	ENST00000360631.3	-	3	707	c.496C>T	c.(496-498)Ctg>Ttg	p.L166L	DCLK1_ENST00000379892.4_Silent_p.L166L|DCLK1_ENST00000255448.4_Silent_p.L166L			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	166					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)		GCAGTGGCCAGTGAAGACACT	0.537																																						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.(496-498)Ctg>Ttg		doublecortin-like kinase 1							89	88	89					13																	36686233		2203	4300	6503	SO:0001819	synonymous_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36686233G>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.496C>T	13.37:g.36686233G>A			Somatic				DCLK1_ENST00000379892.4_Silent_p.L166L|DCLK1_ENST00000360631.3_Silent_p.L166L	p.L166L	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)	3	707	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	166					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.496C>T																																																																																					0.537	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		58	58	0	0	0	1	0	58	58					A	36686233	G	A	36686233	2	1	27	1	0	0	0	0	0	0	0	1	4293	1020	36	3		3	DCLK1	13	36686233	Silent	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08		36686233	78483645	41	2687										
OXGR1	27199	broad.mit.edu	37	chr13	97639792	97639792	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	agcagatctgtgcaggccagGttcagcataatgatggtgct	13	8	2	2			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr13:97639792G>A	ENST00000298440.1	-	4	465	c.222C>T	c.(220-222)aaC>aaT	p.N74N	OXGR1_ENST00000543457.1_Silent_p.N74N	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	74					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)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TGCAGGCCAGGTTCAGCATAA	0.458																																						ENST00000298440.1																			0				NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(220-222)aaC>aaT		oxoglutarate (alpha-ketoglutarate) receptor 1							108	100	103					13																	97639792		2203	4300	6503	SO:0001819	synonymous_variant	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639792G>A	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"GPCR / Class A : Orphans"	4531	protein-coding gene	gene with protein product	"2-oxoglutarate receptor 1", "alpha-ketoglutarate receptor 1"	606922	"G protein-coupled receptor 80"	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.222C>T	13.37:g.97639792G>A			Somatic				OXGR1_ENST00000543457.1_Silent_p.N74N	p.N74N	NM_080818.3	NP_543008.3	WXS	Illumina GAIIx	Phase_I	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	465	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		74					Q5T5A7|Q86TL1	Silent	SNP	ENST00000298440.1	37	c.222C>T	CCDS9482.1																																																																																				0.458	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		34	40	0	0	0	1	0	34	40					A	97639792	G	A	97639792	2	1	27	1	0	0	0	0	0	0	0	1	11341	1252	44	3		3	OXGR1	13	97639792	Silent	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08	60953559	97639792	17530086	42	2688										
TMTC4	84899	broad.mit.edu	37	chr13	101315367	101315367	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	catgaggacagagatgccacTgtgcaggaggatgttgacca	14	8	0	3			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr13:101315367T>C	ENST00000376234.3	-	4	535	c.346A>G	c.(346-348)Agt>Ggt	p.S116G	TMTC4_ENST00000342624.5_Missense_Mutation_p.S135G|TMTC4_ENST00000328767.5_Intron	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	116						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)					GAGATGCCACTGTGCAGGAGG	0.597																																						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.(403-405)Agt>Ggt		transmembrane and tetratricopeptide repeat containing 4							80	85	83					13																	101315367		2139	4241	6380	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101315367T>C		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.346A>G	13.37:g.101315367T>C	ENSP00000365408:p.Ser116Gly		Somatic				TMTC4_ENST00000376234.3_Missense_Mutation_p.S116G|TMTC4_ENST00000328767.5_Intron	p.S135G	NM_032813.2	NP_116202.2	WXS	Illumina GAIIx	Phase_I	Q5T4D3	TMTC4_HUMAN			5	661	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		116					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.403A>G	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	T	2.354	-0.348073	0.05208	.	.	ENSG00000125247	ENST00000376234;ENST00000342624	D;D	0.94046	-3.34;-3.34	4.91	-4.47	0.03525	.	0.420899	0.29558	N	0.011802	T	0.77405	0.4125	N	0.05078	-0.115	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.69405	-0.5154	10	0.14252	T	0.57	.	5.5916	0.17303	0.3228:0.2374:0.0:0.4398	.	116;135	Q5T4D3;Q5T4D3-3	TMTC4_HUMAN;.	G	116;135	ENSP00000365408:S116G;ENSP00000343871:S135G	ENSP00000343871:S135G	S	-	1	0	TMTC4	100113368	0.000000	0.05858	0.000000	0.03702	0.287000	0.27160	-0.177000	0.09796	-0.781000	0.04548	-1.044000	0.02363	AGT		0.597	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		49	138	0	0	0	1	0	49	138					C	101315367	T	C	101315367	3	2	27	1	0	0	0	0	1	0	0	0	16278	1580	55	4	1939	4	TMTC4	13	101315367	Missense_Mutation	SNP	T	TCGA-N8-A4PM-01A-11D-A28R-08	3675575	101315367	13854511	43	2689										
F10	2159	broad.mit.edu	37	chr13	113777240	113777240	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	cctgctgctcggggaaagtcGtaagtgcccctcgcccttca	11	15	1	0			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr13:113777240G>A	ENST00000375559.3	+	1	108		c.e1+1		F10_ENST00000483537.1_Splice_Site|F10_ENST00000375551.3_Splice_Site|F10_ENST00000409306.1_Splice_Site	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X						blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	GGGGAAAGTCGTAAGTGCCCC	0.662																																						ENST00000375559.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	GRCh37	CS054887	F10	S		c.e1+1		coagulation factor X	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						61	43	49					13																	113777240		2202	4300	6502	SO:0001630	splice_region_variant	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113777240G>A		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.70+1G>A	13.37:g.113777240G>A			Somatic				F10_ENST00000483537.1_Splice_Site|F10_ENST00000409306.1_Splice_Site|F10_ENST00000375551.3_Splice_Site		NM_000504.3	NP_000495.1	WXS	Illumina GAIIx	Phase_I	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		1	108	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)						Q14340	Splice_Site	SNP	ENST00000375559.3	37		CCDS9530.1	.	.	.	.	.	.	.	.	.	.	G	8.514	0.867200	0.17250	.	.	ENSG00000126218	ENST00000409306;ENST00000375551;ENST00000375559	.	.	.	3.91	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.494	0.61414	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	F10	112825241	0.988000	0.35896	0.790000	0.31976	0.012000	0.07955	2.990000	0.49401	2.117000	0.64856	0.467000	0.42956	.		0.662	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3		Intron	35	19	0	0	0	1	0	35	19					A	113777240	G	A	113777240	5	1	27	1	0	0	0	0	0	0	1	0	5338	1159	40	1	73	1	F10	13	113777240	Splice_Site	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08	12461873	113777240	1392638	44	2690										
MYH7	4625	broad.mit.edu	37	chr14	23885021	23885021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	tcgttggcacggactgcatcGtccagctgaatctgggtgtc	13	11	1	1	rs374289523		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr14:23885021G>A	ENST00000355349.3	-	35	5136	c.4974C>T	c.(4972-4974)gaC>gaT	p.D1658D	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	1658					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)		GGACTGCATCGTCCAGCTGAA	0.612																																						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.(4972-4974)gaC>gaT		myosin, heavy chain 7, cardiac muscle, beta		G		0,4406		0,0,2203	71	57	62		4974	-6.3	0.8	14		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYH7	NM_000257.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1658/1936	23885021	1,13005	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.chr14:23885021G>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.4974C>T	14.37:g.23885021G>A			Somatic					p.D1658D	NM_000257.2	NP_000248.2	WXS	Illumina GAIIx	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	35	5136	-	all_cancers(95;2.54e-05)		1658					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4974C>T	CCDS9601.1																																																																																				0.612	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		28	32	0	0	0	1	0	28	32					A	23885021	G	A	23885021	2	1	27	1	0	0	0	0	0	0	0	1	10048	1136	40	1		1	MYH7	14	23885021	Silent	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08		23885021	83464519	45	2691										
ZFP36L1	677	broad.mit.edu	37	chr14	69257046	69257073	+	Frame_Shift_Del	DEL	TCACCCTTGAGGCTGCTGAGGAGCTGGT	TCACCCTTGAGGCTGCTGAGGAGCTGGT	-													0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	agctcagagcgggggctggcTcacccttgaggctgctgagg							TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr14:69257046_69257073delTCACCCTTGAGGCTGCTGAGGAGCTGGT	ENST00000439696.2	-	2	495_522	c.194_221delACCAGCTCCTCAGCAGCCTCAAGGGTGA	c.(193-222)aaccagctcctcagcagcctcaagggtgagfs	p.NQLLSSLKGE65fs	ZFP36L1_ENST00000336440.3_Frame_Shift_Del_p.NQLLSSLKGE65fs|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	65					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)		GGGGGCTGGCTCACCCTTGAGGCTGCTGAGGAGCTGGTTCTGGTGGAA	0.689											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.(193-222)agfs		ZFP36 ring finger protein-like 1																																				SO:0001589	frameshift_variant	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69257046_69257073delTCACCCTTGAGGCTGCTGAGGAGCTGGT	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.194_221delACCAGCTCCTCAGCAGCCTCAAGGGTGA	14.37:g.69257046_69257073delTCACCCTTGAGGCTGCTGAGGAGCTGGT	ENSP00000388402:p.Asn65fs		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_Frame_Shift_Del_p.NQLLSSLKGE65fs	p.NQLLSSLKGE65fs	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	495_522	-			65					Q13851	Frame_Shift_Del	DEL	ENST00000439696.2	37	c.194_221delACCAGCTCCTCAGCAGCCTCAAGGGTGA	CCDS9791.1																																																																																				0.689	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			20	43						20	43	---	---	---	---	-	69257073	TCACCCTTGAGGCTGCTGAGGAGCTGGT	-	69257046	7	5	27	1	0	1	0	1	0	0	0	0	17661	1551	54	0	799	0	ZFP36L1	14	69257046	Frame_Shift_Del	DEL	TCACCCTTGAGGCTGCTGAGGAGCTGGT	TCGA-N8-A4PM-01A-11D-A28R-08	45372025	69257046	38092494	46	2692										
TTC7B	145567	broad.mit.edu	37	chr14	91142978	91142978	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	tcactcttgtgttcaggtatCctgctcagcacagcgtcccg	9	14	4	0	rs559075706		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr14:91142978C>A	ENST00000328459.6	-	9	1162	c.1041G>T	c.(1039-1041)agG>agT	p.R347S	TTC7B_ENST00000357056.2_Missense_Mutation_p.R347S|RP11-661G16.1_ENST00000554967.1_RNA	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	347										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GTTCAGGTATCCTGCTCAGCA	0.527																																						ENST00000357056.2																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36						c.(1039-1041)agG>agT		tetratricopeptide repeat domain 7B							151	119	130					14																	91142978		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91142978C>A	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1041G>T	14.37:g.91142978C>A	ENSP00000336127:p.Arg347Ser		Somatic				TTC7B_ENST00000328459.6_Missense_Mutation_p.R347S	p.R347S			WXS	Illumina GAIIx	Phase_I	Q86TV6	TTC7B_HUMAN			9	1162	-		Melanoma(154;0.222)	347					Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.1041G>T	CCDS32140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.38|16.38	3.107675|3.107675	0.56291|0.56291	.|.	.|.	ENSG00000165914|ENSG00000165914	ENST00000554462|ENST00000555768;ENST00000357056;ENST00000328459;ENST00000540938	.|T;T	.|0.45276	.|1.59;0.9	5.15|5.15	3.31|3.31	0.37934|0.37934	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60457|0.60457	0.2270|0.2270	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	.|D	.|0.57899	.|0.981	.|D	.|0.69824	.|0.966	T|T	0.59742|0.59742	-0.7397|-0.7397	5|10	.|0.59425	.|D	.|0.04	-11.154|-11.154	8.6711|8.6711	0.34152|0.34152	0.0:0.7027:0.0:0.2973|0.0:0.7027:0.0:0.2973	.|.	.|347	.|Q86TV6	.|TTC7B_HUMAN	Y|S	17|245;347;347;89	.|ENSP00000349564:R347S;ENSP00000336127:R347S	.|ENSP00000336127:R347S	D|R	-|-	1|3	0|2	TTC7B|TTC7B	90212731|90212731	0.998000|0.998000	0.40836|0.40836	0.982000|0.982000	0.44146|0.44146	0.562000|0.562000	0.35680|0.35680	0.535000|0.535000	0.23114|0.23114	0.554000|0.554000	0.29061|0.29061	0.563000|0.563000	0.77884|0.77884	GAT|AGG		0.527	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			58	70	1	0	7.50695e-29	1	8.79721e-29	58	70					A	91142978	C	A	91142978	3	1	27	1	0	0	0	0	1	0	0	0	16728	854	30	2	1538	2	TTC7B	14	91142978	Missense_Mutation	SNP	C	TCGA-N8-A4PM-01A-11D-A28R-08	21885932	91142978	16206562	47	2693										
NIPA2	81614	broad.mit.edu	37	chr15	23006811	23006811	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	aggacccaccacgaagattaAtatcaaggccacaatgacca	7	12	1	2			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:23006811A>G	ENST00000337451.3	-	8	1105	c.493T>C	c.(493-495)Tta>Cta	p.L165L	NIPA2_ENST00000398013.3_Silent_p.L165L|NIPA2_ENST00000359727.4_Silent_p.L146L|NIPA2_ENST00000398014.2_Silent_p.L165L|NIPA2_ENST00000539711.2_Silent_p.L146L	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	165						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			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)		ACGAAGATTAATATCAAGGCC	0.448																																						ENST00000337451.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15						c.(493-495)Tta>Cta		non imprinted in Prader-Willi/Angelman syndrome 2							66	59	61					15																	23006811		2203	4300	6503	SO:0001819	synonymous_variant	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23006811A>G	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.493T>C	15.37:g.23006811A>G			Somatic				NIPA2_ENST00000359727.4_Silent_p.L146L|NIPA2_ENST00000398014.2_Silent_p.L165L|NIPA2_ENST00000398013.3_Silent_p.L165L|NIPA2_ENST00000539711.2_Silent_p.L146L	p.L165L	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	1105	-		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)	165					F8W7Y8|Q96F03|Q9BVS2	Silent	SNP	ENST00000337451.3	37	c.493T>C	CCDS10010.1																																																																																				0.448	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		13	43	0	0	0	1	0	13	43					G	23006811	A	G	23006811	2	3	27	1	0	0	0	0	0	0	0	1	10432	98	4	4		4	NIPA2	15	23006811	Silent	SNP	A	TCGA-N8-A4PM-01A-11D-A28R-08		23006811	79524581	48	2694										
NDN	4692	broad.mit.edu	37	chr15	23931940	23931940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	gggcgaggatgaggctggtgCgccggaggatgctcctgcac	19	10	0	1			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:23931940C>T	ENST00000331837.4	-	1	510	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	142	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R142H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		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;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GAGGCTGGTGCGCCGGAGGAT	0.587									Prader-Willi syndrome																													ENST00000331837.4																			1	Substitution - Missense(1)	p.R142H(1)	breast(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(424-426)cGc>cAc		necdin, melanoma antigen (MAGE) family member							51	51	51					15																	23931940		2203	4300	6503	SO:0001583	missense	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931940C>T	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.425G>A	15.37:g.23931940C>T	ENSP00000332643:p.Arg142His		Somatic					p.R142H	NM_002487.2	NP_002478.1	WXS	Illumina GAIIx	Phase_I	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	510	-		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)	142			MAGE.		B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.425G>A	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894953	0.72639	.	.	ENSG00000182636	ENST00000331837	T	0.06142	3.34	3.87	2.94	0.34122	.	0.061594	0.64402	D	0.000008	T	0.12689	0.0308	L	0.46741	1.465	0.40577	D	0.981358	D	0.56746	0.977	P	0.58620	0.842	T	0.01739	-1.1284	10	0.87932	D	0	.	7.934	0.29918	0.0:0.8799:0.0:0.1201	.	142	Q99608	NECD_HUMAN	H	142	ENSP00000332643:R142H	ENSP00000332643:R142H	R	-	2	0	NDN	21483033	1.000000	0.71417	0.956000	0.39512	0.974000	0.67602	3.387000	0.52501	0.926000	0.37118	0.561000	0.74099	CGC		0.587	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		21	16	0	0	0	1	0	21	16					T	23931940	C	T	23931940	3	4	27	1	0	0	0	0	1	0	0	0	10256	768	27	1	544	1	NDN	15	23931940	Missense_Mutation	SNP	C	TCGA-N8-A4PM-01A-11D-A28R-08	925129	23931940	78599452	49	2695										
HERC1	8925	broad.mit.edu	37	chr15	64021494	64021494	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	ctttgagcaaatttgcagaaCgtgaataaatatctgtggca	9	6	1	3			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:64021494C>T	ENST00000443617.2	-	16	3182	c.3095G>A	c.(3094-3096)cGt>cAt	p.R1032H		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1032					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						ATTTGCAGAACGTGAATAAAT	0.343																																						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.(3094-3096)cGt>cAt		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							42	39	40					15																	64021494		1842	4099	5941	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64021494C>T	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.3095G>A	15.37:g.64021494C>T	ENSP00000390158:p.Arg1032His		Somatic					p.R1032H	NM_003922.3	NP_003913.3	WXS	Illumina GAIIx	Phase_I	Q15751	HERC1_HUMAN			16	3182	-			1032					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.3095G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260767	0.95368	.	.	ENSG00000103657	ENST00000443617	T	0.68765	-0.35	5.6	5.6	0.85130	.	0.000000	0.85682	U	0.000000	T	0.73908	0.3647	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.70081	-0.4970	10	0.28530	T	0.3	.	19.6131	0.95618	0.0:1.0:0.0:0.0	.	1032	Q15751	HERC1_HUMAN	H	1032	ENSP00000390158:R1032H	ENSP00000390158:R1032H	R	-	2	0	HERC1	61808547	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.652000	0.90054	0.561000	0.74099	CGT		0.343	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		5	19	0	0	0	1	0	5	19					T	64021494	C	T	64021494	3	4	27	1	0	0	0	0	1	0	0	0	7066	536	19	1	11742	1	HERC1	15	64021494	Missense_Mutation	SNP	C	TCGA-N8-A4PM-01A-11D-A28R-08	40089554	64021494	38509898	50	2696										
SH3GL3	6457	broad.mit.edu	37	chr15	84257518	84257518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	caccacctctgtagtgaagaCgacaggtaagttgaccattc	9	11	1	3			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:84257518C>A	ENST00000427482.2	+	8	1139	c.833C>A	c.(832-834)aCg>aAg	p.T278K	SH3GL3_ENST00000434347.1_Missense_Mutation_p.T286K|SH3GL3_ENST00000535412.1_Missense_Mutation_p.T278K|SH3GL3_ENST00000324537.5_Missense_Mutation_p.T286K	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	278					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GTAGTGAAGACGACAGGTAAG	0.443																																						ENST00000324537.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(856-858)aCg>aAg		SH3-domain GRB2-like 3							123	89	101					15																	84257518		2203	4300	6503	SO:0001583	missense	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84257518C>A	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.833C>A	15.37:g.84257518C>A	ENSP00000391372:p.Thr278Lys		Somatic				SH3GL3_ENST00000535412.1_Missense_Mutation_p.T278K|SH3GL3_ENST00000434347.1_Missense_Mutation_p.T286K|SH3GL3_ENST00000427482.2_Missense_Mutation_p.T278K	p.T286K			WXS	Illumina GAIIx	Phase_I	Q99963	SH3G3_HUMAN			11	1349	+			278			SH3.		O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	c.857C>A	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	C	1.128	-0.653178	0.03480	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T	0.18502	2.24;2.21;2.21	4.34	3.41	0.39046	.	1.045340	0.07470	N	0.902044	T	0.15478	0.0373	L	0.44542	1.39	0.09310	N	1	B;B;B	0.23891	0.093;0.046;0.045	B;B;B	0.29942	0.033;0.051;0.109	T	0.39981	-0.9587	10	0.07175	T	0.84	-27.4946	8.7017	0.34329	0.0:0.8959:0.0:0.1041	.	278;278;286	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	K	278;278;286;286	ENSP00000391372:T278K;ENSP00000320092:T286K;ENSP00000397871:T286K	ENSP00000320092:T286K	T	+	2	0	SH3GL3	82048522	0.186000	0.23225	0.006000	0.13384	0.024000	0.10985	0.819000	0.27308	1.387000	0.46486	0.655000	0.94253	ACG		0.443	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		20	13	1	0	2.94398e-08	1	3.02464e-08	20	13					A	84257518	C	A	84257518	3	1	27	1	0	0	0	0	1	0	0	0	14267	536	19	5	863	5	SH3GL3	15	84257518	Missense_Mutation	SNP	C	TCGA-N8-A4PM-01A-11D-A28R-08	20236024	84257518	18273874	51	2697										
RLTPR	146206	broad.mit.edu	37	chr16	67680200	67680200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	ccatcaagaaggtcttccctCgctcgacccttgggtgaggc	11	14	2	2			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr16:67680200C>T	ENST00000334583.6	+	5	689	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	RLTPR_ENST00000545661.1_Missense_Mutation_p.R121C	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	121					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)		GGTCTTCCCTCGCTCGACCCT	0.637																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(361-363)Cgc>Tgc		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							46	52	50					16																	67680200		2071	4212	6283	SO:0001583	missense	146206							g.chr16:67680200C>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.361C>T	16.37:g.67680200C>T	ENSP00000334958:p.Arg121Cys		Somatic				RLTPR_ENST00000545661.1_Missense_Mutation_p.R121C	p.R121C	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)	5	689	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	121					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.361C>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	9.173	1.021681	0.19433	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.13778	2.56;2.56	4.87	0.43	0.16515	.	0.471745	0.22416	N	0.060357	T	0.05686	0.0149	N	0.08118	0	0.09310	N	0.999994	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.29518	-1.0009	10	0.52906	T	0.07	-20.0258	5.0204	0.14358	0.0:0.5062:0.208:0.2859	.	121;121	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	C	121	ENSP00000334958:R121C;ENSP00000441481:R121C	ENSP00000334958:R121C	R	+	1	0	RLTPR	66237701	0.763000	0.28462	0.790000	0.31976	0.424000	0.31475	0.858000	0.27845	0.270000	0.21984	-0.254000	0.11334	CGC		0.637	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		14	27	0	0	0	1	0	14	27					T	67680200	C	T	67680200	3	4	27	1	0	0	0	0	1	0	0	0	13409	884	31	1	379	1	RLTPR	16	67680200	Missense_Mutation	SNP	C	TCGA-N8-A4PM-01A-11D-A28R-08		67680200	22674553	52	2698										
ABR	29	broad.mit.edu	37	chr17	915093	915093	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	ctcccagactcactggcatcGaagacggccttgagcgcctg	11	15	1	3			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr17:915093G>T	ENST00000302538.5	-	19	2240	c.2094C>A	c.(2092-2094)ttC>ttA	p.F698L	ABR_ENST00000574437.1_Missense_Mutation_p.F652L|ABR_ENST00000291107.2_Missense_Mutation_p.F661L|ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Missense_Mutation_p.F149L|ABR_ENST00000544583.2_Missense_Mutation_p.F652L|ABR_ENST00000536794.2_Missense_Mutation_p.F480L	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	698	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CACTGGCATCGAAGACGGCCT	0.647																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1954-1956)ttC>ttA		active BCR-related							151	116	128					17																	915093		2203	4300	6503	SO:0001583	missense	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:915093G>T	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2094C>A	17.37:g.915093G>T	ENSP00000303909:p.Phe698Leu		Somatic				ABR_ENST00000291107.2_Missense_Mutation_p.F661L|ABR_ENST00000302538.5_Missense_Mutation_p.F698L|ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Missense_Mutation_p.F149L|ABR_ENST00000536794.2_Missense_Mutation_p.F480L|ABR_ENST00000574437.1_Missense_Mutation_p.F652L	p.F652L	NM_001159746.2	NP_001153218.1	WXS	Illumina GAIIx	Phase_I	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	19	2555	-			698			Rho-GAP.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.1956C>A	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962637	0.53400	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210;ENST00000382259	T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08	5.75	-5.41	0.02648	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.057000	0.64402	N	0.000001	T	0.19685	0.0473	L	0.45137	1.4	0.37504	D	0.916861	B;B;B;B;P;B	0.37708	0.202;0.015;0.032;0.002;0.606;0.357	B;B;B;B;P;B	0.45998	0.23;0.013;0.017;0.002;0.5;0.383	T	0.07443	-1.0772	10	0.66056	D	0.02	.	9.7605	0.40530	0.397:0.1121:0.4909:0.0	.	480;149;306;661;608;698	B7Z683;F5H3S2;Q6ZT60;Q12979-2;B7Z2X0;Q12979	.;.;.;.;.;ABR_HUMAN	L	698;652;661;480;149;307	ENSP00000303909:F698L;ENSP00000442048:F652L;ENSP00000291107:F661L;ENSP00000437429:F480L;ENSP00000445198:F149L	ENSP00000291107:F661L	F	-	3	2	ABR	861843	0.004000	0.15560	0.915000	0.36163	0.837000	0.47467	-0.703000	0.05063	-1.097000	0.03042	-1.003000	0.02500	TTC		0.647	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			15	22	1	0	3.35478e-16	1	3.70012e-16	15	22					T	915093	G	T	915093	3	4	27	1	0	0	0	0	1	0	0	0	99	1049	37	2	505	2	ABR	17	915093	Missense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08		915093	80280117	53	2699										
TP53	7157	broad.mit.edu	37	chr17	7579324	7579325	+	Frame_Shift_Del	DEL	AG	AG	-													0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	caactgaccgtgcaagtcacAgacttggctgtcccagaatg							TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr17:7579324_7579325delAG	ENST00000269305.4	-	4	551_552	c.362_363delCT	c.(361-363)tctfs	p.S121fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.S121fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S121fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S121fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.S121fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.S121fs	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	121	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> F (in sporadic cancers; somatic mutation).		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.G59fs*23(3)|p.S121fs*27(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.S121fs*2(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.S121F(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)	TGCAAGTCACAGACTTGGCTGT	0.559		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		22	Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(2)|Substitution - Missense(1)	p.0?(8)|p.G59fs*23(3)|p.S121fs*27(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.S121fs*2(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.S121F(1)	upper_aerodigestive_tract(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|lung(3)|breast(3)|central_nervous_system(2)|stomach(1)|urinary_tract(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.(361-363)tfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579324_7579325delAG	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.362_363delCT	17.37:g.7579324_7579325delAG	ENSP00000269305:p.Ser121fs	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.S121fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S121fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S121fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S121fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S121fs	p.S121fs	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	494_495	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	121		S -> F (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.362_363delCT	CCDS11118.1																																																																																				0.559	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		69	9						69	9	---	---	---	---	-	7579325	AG	-	7579324	7	5	27	1	0	1	0	1	0	0	0	0	16396	175	7	0	939	0	TP53	17	7579324	Frame_Shift_Del	DEL	AG	TCGA-N8-A4PM-01A-11D-A28R-08	6664231	7579324	73615886	54	2700										
FZD2	2535	broad.mit.edu	37	chr17	42636256	42636256	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	gacggcgacctgctgagcggCgtgtgcttcgtaggcctcaa	15	12	1	1			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr17:42636256C>G	ENST00000315323.3	+	1	1332	c.1200C>G	c.(1198-1200)ggC>ggG	p.G400G		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	400					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)			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)		TGCTGAGCGGCGTGTGCTTCG	0.662																																						ENST00000315323.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1198-1200)ggC>ggG		frizzled family receptor 2							70	70	70					17																	42636256		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.chr17:42636256C>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.1200C>G	17.37:g.42636256C>G			Somatic					p.G400G	NM_001466.3	NP_001457.1	WXS	Illumina GAIIx	Phase_I	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1332	+		Prostate(33;0.0181)	400					Q0VG82	Silent	SNP	ENST00000315323.3	37	c.1200C>G	CCDS11484.1																																																																																				0.662	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		84	8	0	0	0	1	0	84	8					G	42636256	C	G	42636256	2	3	27	1	0	0	0	0	0	0	0	1	6138	755	27	5		5	FZD2	17	42636256	Silent	SNP	C	TCGA-N8-A4PM-01A-11D-A28R-08	35056932	42636256	38558954	55	2701										
COLEC12	81035	broad.mit.edu	37	chr18	321700	321700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	cgcaaatgaagttattgacgTcttcacattggaaatcgttc	8	8	2	2			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr18:321700T>C	ENST00000400256.3	-	9	2378	c.2171A>G	c.(2170-2172)gAc>gGc	p.D724G	RP11-720L2.4_ENST00000580756.1_lincRNA	NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	724	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)				GTTATTGACGTCTTCACATTG	0.502																																						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.(2170-2172)gAc>gGc		collectin sub-family member 12							293	290	291					18																	321700		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.chr18:321700T>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.2171A>G	18.37:g.321700T>C	ENSP00000383115:p.Asp724Gly		Somatic					p.D724G	NM_130386.2	NP_569057.1	WXS	Illumina GAIIx	Phase_I	Q5KU26	COL12_HUMAN			9	2378	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	724			C-type lectin.		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.2171A>G	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518104	0.85495	.	.	ENSG00000158270	ENST00000400256	T	0.19394	2.15	5.68	5.68	0.88126	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.105878	0.64402	D	0.000007	T	0.30135	0.0755	L	0.46741	1.465	0.58432	D	0.999999	P	0.38250	0.624	P	0.45660	0.489	T	0.03008	-1.1083	10	0.72032	D	0.01	-13.8595	15.9259	0.79615	0.0:0.0:0.0:1.0	.	724	Q5KU26	COL12_HUMAN	G	724	ENSP00000383115:D724G	ENSP00000383115:D724G	D	-	2	0	COLEC12	311700	1.000000	0.71417	0.961000	0.40146	0.892000	0.51952	7.443000	0.80521	2.161000	0.67846	0.460000	0.39030	GAC		0.502	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			6	295	0	0	0	1	0	6	295					C	321700	T	C	321700	3	2	27	1	0	0	0	0	1	0	0	0	3714	1667	58	4	65	4	COLEC12	18	321700	Missense_Mutation	SNP	T	TCGA-N8-A4PM-01A-11D-A28R-08		321700	77755548	56	2702										
LAMA1	284217	broad.mit.edu	37	chr18	6965302	6965302	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	cctaccttgcttccggtttcGctggaaggcaattttgtacc	9	12	0	0	rs542213899		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr18:6965302G>A	ENST00000389658.3	-	50	7273	c.7180C>T	c.(7180-7182)Cga>Tga	p.R2394*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2394	Laminin G-like 2. {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)				TTCCGGTTTCGCTGGAAGGCA	0.443													G|||	1	0.000199681	8e-04	0	5008	,	,		18945	0		0	False		,,,				2504	0					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.(7180-7182)Cga>Tga		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						133	124	127					18																	6965302		2203	4300	6503	SO:0001587	stop_gained	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6965302G>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.7180C>T	18.37:g.6965302G>A	ENSP00000374309:p.Arg2394*		Somatic					p.R2394*	NM_005559.3	NP_005550.2	WXS	Illumina GAIIx	Phase_I	P25391	LAMA1_HUMAN			50	7273	-		Colorectal(10;0.172)	2394			Laminin G-like 2.			Nonsense_Mutation	SNP	ENST00000389658.3	37	c.7180C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	49	15.016997	0.99819	.	.	ENSG00000101680	ENST00000389658	.	.	.	6.17	-3.6	0.04570	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	21.0564	0.99945	0.0:0.0:0.2505:0.7495	.	.	.	.	X	2394	.	ENSP00000374309:R2394X	R	-	1	2	LAMA1	6955302	0.999000	0.42202	0.892000	0.35008	0.952000	0.60782	0.487000	0.22356	-1.158000	0.02811	0.655000	0.94253	CGA		0.443	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		50	42	0	0	0	1	0	50	42					A	6965302	G	A	6965302	4	1	27	1	0	0	0	0	0	1	0	0	8614	1095	38	1	2103	1	LAMA1	18	6965302	Nonsense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08	6643602	6965302	71111946	57	2703										
ANKRD12	23253	broad.mit.edu	37	chr18	9281098	9281098	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	ttccccttgttgatgttaacGacgactttgaattgactcct	7	10	0	3			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr18:9281098G>T	ENST00000262126.4	+	13	6403	c.6163G>T	c.(6163-6165)Gac>Tac	p.D2055Y	ANKRD12_ENST00000400020.3_Missense_Mutation_p.D2032Y|ANKRD12_ENST00000383440.2_Missense_Mutation_p.D2032Y	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	2055						cytoplasm (GO:0005737)|nucleus (GO:0005634)				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						TGATGTTAACGACGACTTTGA	0.408																																						ENST00000383440.2																			0				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.(6094-6096)Gac>Tac		ankyrin repeat domain 12							160	151	154					18																	9281098		2203	4300	6503	SO:0001583	missense	23253					nucleus		g.chr18:9281098G>T	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.6163G>T	18.37:g.9281098G>T	ENSP00000262126:p.Asp2055Tyr		Somatic				ANKRD12_ENST00000400020.3_Missense_Mutation_p.D2032Y|ANKRD12_ENST00000262126.3_Missense_Mutation_p.D2055Y	p.D2032Y	NM_001083625.2	NP_001077094.1	WXS	Illumina GAIIx	Phase_I	Q6UB98	ANR12_HUMAN			12	6351	+			2055					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.6094G>T	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.888317	0.72524	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.75821	-0.96;-0.97	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.86401	0.5924	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87165	0.2217	10	0.87932	D	0	-21.2976	19.6028	0.95570	0.0:0.0:1.0:0.0	.	2032;2055	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	Y	2032;2055	ENSP00000372932:D2032Y;ENSP00000262126:D2055Y	ENSP00000262126:D2055Y	D	+	1	0	ANKRD12	9271098	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.648000	0.89879	0.591000	0.81541	GAC		0.408	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		44	64	1	0	3.76604e-16	1	4.09352e-16	44	64					T	9281098	G	T	9281098	3	4	27	1	0	0	0	0	1	0	0	0	640	1058	37	2	6209	2	ANKRD12	18	9281098	Missense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08	2315796	9281098	68796150	58	2704										
CLEC17A	388512	broad.mit.edu	37	chr19	14707736	14707736	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	gtctggaggtcctggctgctGccagaagaggtggatggtgt	18	7	1	2			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr19:14707736G>T	ENST00000417570.1	+	9	532	c.494G>T	c.(493-495)tGc>tTc	p.C165F	CLEC17A_ENST00000547437.1_Missense_Mutation_p.C165F|CLEC17A_ENST00000397439.2_Missense_Mutation_p.C148F	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	165						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										CCTGGCTGCTGCCAGAAGAGG	0.572																																						ENST00000547437.1																			0											c.(493-495)tGc>tTc		C-type lectin domain family 17, member A							79	87	84					19																	14707736		2116	4237	6353	SO:0001583	missense	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14707736G>T	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"C-type lectin domain containing"	34520	protein-coding gene	gene with protein product	"prolectin"					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.494G>T	19.37:g.14707736G>T	ENSP00000393719:p.Cys165Phe		Somatic				CLEC17A_ENST00000397439.2_Missense_Mutation_p.C148F|CLEC17A_ENST00000417570.1_Missense_Mutation_p.C165F	p.C165F	NM_207390.3	NP_997273.3	WXS	Illumina GAIIx	Phase_I	Q6ZS10	CL17A_HUMAN			9	571	+			165					A8MX68|B2RTX0|B7ZMM4	Missense_Mutation	SNP	ENST00000417570.1	37	c.494G>T	CCDS56087.1	.	.	.	.	.	.	.	.	.	.	G	0.234	-1.018562	0.02078	.	.	ENSG00000187912	ENST00000547437;ENST00000397439;ENST00000417570	T;T;T	0.62788	0.0;0.0;0.0	3.39	-0.254	0.12992	.	0.722608	0.11449	N	0.562977	T	0.36110	0.0955	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.17268	0.021;0.002;0.003;0.009	B;B;B;B	0.11329	0.006;0.003;0.001;0.004	T	0.16928	-1.0386	10	0.12103	T	0.63	-17.6469	2.0758	0.03623	0.3733:0.0:0.3765:0.2502	.	165;165;165;165	Q6ZS10-2;Q6ZS10-3;Q6ZS10;F8W1T8	.;.;CL17A_HUMAN;.	F	165;148;165	ENSP00000450065:C165F;ENSP00000380581:C148F;ENSP00000393719:C165F	ENSP00000341620:C165F	C	+	2	0	CLEC17A	14568736	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.477000	0.06583	-0.107000	0.12088	0.644000	0.83932	TGC		0.572	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		7	6	1	0	0.00198382	1	0.00198382	7	6					T	14707736	G	T	14707736	3	4	27	1	0	0	0	0	1	0	0	0	3503	1319	46	5	473	5	CLEC17A	19	14707736	Missense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08		14707736	44421247	59	2705										
TGFB1	7040	broad.mit.edu	37	chr19	41848131	41848131	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	cacaggagcagtgggcgctaAggcgaaagccctcaatttcc	12	12	1	0			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr19:41848131A>C	ENST00000221930.5	-	4	1522	c.656T>G	c.(655-657)cTt>cGt	p.L219R		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	219	Arm domain. {ECO:0000250}.				active induction of host immune response by virus (GO:0046732)|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002460)|aging (GO:0007568)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|branch elongation involved in mammary gland duct branching (GO:0060751)|cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|cellular calcium ion homeostasis (GO:0006874)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation (GO:0002062)|common-partner SMAD protein phosphorylation (GO:0007182)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|defense response to fungus, incompatible interaction (GO:0009817)|digestive tract development (GO:0048565)|embryo development (GO:0009790)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|evasion or tolerance of host defenses by virus (GO:0019049)|extracellular matrix assembly (GO:0085029)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|germ cell migration (GO:0008354)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymph node development (GO:0048535)|macrophage derived foam cell differentiation (GO:0010742)|mammary gland branching involved in thelarche (GO:0060744)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|modulation by virus of host morphology or physiology (GO:0019048)|mononuclear cell proliferation (GO:0032943)|myelination (GO:0042552)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA replication (GO:0008156)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of ossification (GO:0030279)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of T cell proliferation (GO:0042130)|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)|organ regeneration (GO:0031100)|ossification involved in bone remodeling (GO:0043932)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|phosphate-containing compound metabolic process (GO:0006796)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NAD+ ADP-ribosyltransferase activity (GO:1901666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of odontogenesis (GO:0042482)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein export from nucleus (GO:0006611)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|receptor catabolic process (GO:0032801)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of binding (GO:0051098)|regulation of blood vessel remodeling (GO:0060312)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of cartilage development (GO:0061035)|regulation of cell migration (GO:0030334)|regulation of DNA binding (GO:0051101)|regulation of miRNA metabolic process (GO:2000628)|regulation of protein import into nucleus (GO:0042306)|regulation of sodium ion transport (GO:0002028)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulatory T cell differentiation (GO:0045066)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|response to radiation (GO:0009314)|response to vitamin D (GO:0033280)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|T cell homeostasis (GO:0043029)|tolerance induction to self antigen (GO:0002513)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|viral life cycle (GO:0019058)	axon (GO:0030424)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	antigen binding (GO:0003823)|cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	GTGGGCGCTAAGGCGAAAGCC	0.592																																						ENST00000221930.5																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(655-657)cTt>cGt		transforming growth factor, beta 1	Hyaluronidase(DB00070)						80	66	71					19																	41848131		2203	4300	6503	SO:0001583	missense	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.chr19:41848131A>C	X02812	CCDS33031.1	19q13.1	2014-01-30	2007-02-16			ENSG00000105329		"Endogenous ligands"	11766	protein-coding gene	gene with protein product	"Camurati-Engelmann disease", "prepro-transforming growth factor beta-1"	190180		TGFB, DPD1		10631145, 10843814	Standard	NM_000660		Approved	CED, TGFbeta	uc002oqh.2	P01137		ENST00000221930.5:c.656T>G	19.37:g.41848131A>C	ENSP00000221930:p.Leu219Arg		Somatic					p.L219R	NM_000660.4	NP_000651.3	WXS	Illumina GAIIx	Phase_I	P01137	TGFB1_HUMAN			4	1522	-			219					A8K792|Q9UCG4	Missense_Mutation	SNP	ENST00000221930.5	37	c.656T>G	CCDS33031.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987023	0.74589	.	.	ENSG00000105329	ENST00000221930	T	0.72167	-0.63	5.0	5.0	0.66597	Transforming growth factor-beta, N-terminal (1);	0.219455	0.39083	N	0.001480	T	0.80783	0.4689	M	0.64997	1.995	0.47698	D	0.999496	D	0.71674	0.998	D	0.73380	0.98	T	0.82733	-0.0311	10	0.87932	D	0	-12.713	12.377	0.55285	1.0:0.0:0.0:0.0	.	219	P01137	TGFB1_HUMAN	R	219	ENSP00000221930:L219R	ENSP00000221930:L219R	L	-	2	0	TGFB1	46539971	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.649000	0.61433	2.112000	0.64535	0.454000	0.30748	CTT		0.592	TGFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463500.2			20	14	0	0	0	1	0	20	14					C	41848131	A	C	41848131	3	2	27	1	0	0	0	0	1	0	0	0	15831	72	3	4	532	4	TGFB1	19	41848131	Missense_Mutation	SNP	A	TCGA-N8-A4PM-01A-11D-A28R-08	27140395	41848131	17280852	60	2706										
ARHGAP35	2909	broad.mit.edu	37	chr19	47423882	47423882	+	Frame_Shift_Del	DEL	T	T	-													0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	gtcaggcttcctgtgaactcTttccagacgccaacatttca							TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr19:47423882delT	ENST00000404338.3	+	1	1950	c.1950delT	c.(1948-1950)tctfs	p.S650fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	650					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CTGTGAACTCTTTCCAGACGC	0.438																																						ENST00000404338.3																			0											c.(1948-1950)tcfs		Rho GTPase activating protein 35							70	71	70					19																	47423882		1889	4127	6016	SO:0001589	frameshift_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47423882delT	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1950delT	19.37:g.47423882delT	ENSP00000385720:p.Ser650fs		Somatic					p.S650fs	NM_004491.4	NP_004482.4	WXS	Illumina GAIIx	Phase_I	Q9NRY4	RHG35_HUMAN			1	1950	+			650					A7E2A4|Q14452|Q9C0E1	Frame_Shift_Del	DEL	ENST00000404338.3	37	c.1950delT	CCDS46127.1																																																																																				0.438	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		49	59						49	59	---	---	---	---	-	47423882	T	-	47423882	7	5	27	1	0	1	0	1	0	0	0	0	6804	1596	56	0	1952	0	ARHGAP35	19	47423882	Frame_Shift_Del	DEL	T	TCGA-N8-A4PM-01A-11D-A28R-08	5575751	47423882	11705101	61	2707										
KDELR1	10945	broad.mit.edu	37	chr19	48894581	48894582	+	Frame_Shift_Ins	INS	-	-	G													0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	caagatgatggcgaggaggtINSgggagaggtctcccaggaat							TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr19:48894581_48894582insG	ENST00000330720.2	-	1	228_229	c.34_35insC	c.(34-36)cacfs	p.H12fs	KDELR1_ENST00000597017.1_5'Flank	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	12					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		GGCGAGGAGGTGGGAGAGGTCT	0.663											OREG0025606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330720.2																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(34-36)cctfs		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1																																				SO:0001589	frameshift_variant	10945				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity	g.chr19:48894581_48894582insG	X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.35dupC	19.37:g.48894584_48894584dupG	ENSP00000329471:p.His12fs		Somatic	OREG0025606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	958		p.P12fs	NM_006801.2	NP_006792.1	WXS	Illumina GAIIx	Phase_I	P24390	ERD21_HUMAN		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)	1	228_229	-		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)	12					B2R6N4|Q54A39|Q8NBW7	Frame_Shift_Ins	INS	ENST00000330720.2	37	c.34_35insC	CCDS12718.1																																																																																				0.663	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465708.1			5	3						5	3	---	---	---	---	G	48894582	-	G	48894581	7	5	27	1	0	1	1	0	0	0	0	0	8128	1696	59	0	623	0	KDELR1	19	48894581	Frame_Shift_Ins	INS	-	TCGA-N8-A4PM-01A-11D-A28R-08	1470699	48894581	10234402	62	2708										
NLRP8	126205	broad.mit.edu	37	chr19	56466006	56466006	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	tacttaccatgtctgcttctGcccaaaagaccccagggtag	8	13	2	1			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr19:56466006G>A	ENST00000291971.3	+	3	653	c.582G>A	c.(580-582)ctG>ctA	p.L194L	NLRP8_ENST00000590542.1_Silent_p.L194L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	194					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)		GTCTGCTTCTGCCCAAAAGAC	0.522																																						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.(580-582)ctG>ctA		NLR family, pyrin domain containing 8							96	87	90					19																	56466006		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56466006G>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.582G>A	19.37:g.56466006G>A			Somatic				NLRP8_ENST00000590542.1_Silent_p.L194L	p.L194L	NM_176811.2	NP_789781.2	WXS	Illumina GAIIx	Phase_I	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	653	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	194					Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.582G>A	CCDS12937.1																																																																																				0.522	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		56	46	0	0	0	1	0	56	46					A	56466006	G	A	56466006	2	1	27	1	0	0	0	0	0	0	0	1	10492	1306	46	3		3	NLRP8	19	56466006	Silent	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08	7571425	56466006	2662977	63	2709										
TPX2	22974	broad.mit.edu	37	chr20	30354424	30354424	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	aacaatccattccgtcaaatGcttgttcttccctggaagtt	6	11	2	0			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr20:30354424G>T	ENST00000300403.6	+	5	823	c.295G>T	c.(295-297)Gct>Tct	p.A99S	TPX2_ENST00000340513.4_Missense_Mutation_p.A99S	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	99					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)			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)			TCCGTCAAATGCTTGTTCTTC	0.428																																						ENST00000340513.4																			0				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.(295-297)Gct>Tct		TPX2, microtubule-associated							136	132	133					20																	30354424		2203	4300	6503	SO:0001583	missense	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.chr20:30354424G>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.295G>T	20.37:g.30354424G>T	ENSP00000300403:p.Ala99Ser		Somatic				TPX2_ENST00000300403.6_Missense_Mutation_p.A99S	p.A99S			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)		5	823	+			99					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.295G>T	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.534322	0.00942	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.30981	1.51	4.79	-0.78	0.10969	.	1.134480	0.06489	N	0.734275	T	0.14056	0.0340	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.28202	-1.0051	10	0.09084	T	0.74	0.3304	3.8854	0.09096	0.3582:0.0:0.4836:0.1583	.	99;99	Q96RR5;Q9ULW0	.;TPX2_HUMAN	S	99	ENSP00000341145:A99S	ENSP00000300403:A99S	A	+	1	0	TPX2	29818085	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	-0.410000	0.07151	-0.168000	0.10853	-0.140000	0.14226	GCT		0.428	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			41	112	1	0	1.47197e-15	1	1.57711e-15	41	112					T	30354424	G	T	30354424	3	4	27	1	0	0	0	0	1	0	0	0	16447	1319	46	5	305	5	TPX2	20	30354424	Missense_Mutation	SNP	G	TCGA-N8-A4PM-01A-11D-A28R-08		30354424	32671096	64	2710										
ARR3	407	broad.mit.edu	37	chrX	69489951	69489951	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0153846153846154	1	1	0.254584057131828	0	0.262539808917197	1	1	0	tctgtccttctctccacagaCggtgttgtcctggttgatcc	9	13	2	2			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chrX:69489951C>T	ENST00000307959.8	+	5	153	c.102C>T	c.(100-102)gaC>gaT	p.D34D	ARR3_ENST00000374495.3_Splice_Site_p.D34D	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	34					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TCTCCACAGACGGTGTTGTCC	0.433																																						ENST00000374495.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						c.e5-1		arrestin 3, retinal (X-arrestin)							204	159	175					X																	69489951		2203	4300	6503	SO:0001630	splice_region_variant	407				signal transduction|visual perception	cytoplasm|soluble fraction		g.chrX:69489951C>T		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"arrestin 4"	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.101-1C>T	X.37:g.69489951C>T			Somatic				ARR3_ENST00000307959.8_Splice_Site_p.D34_splice	p.D34_splice			WXS	Illumina GAIIx	Phase_I	P36575	ARRC_HUMAN			5	200	+			34					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Splice_Site	SNP	ENST00000307959.8	37	c.100_splice	CCDS14399.1																																																																																				0.433	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312	Silent	24	4	0	0	0	1	0	24	4					T	69489951	C	T	69489951	5	4	27	1	0	0	0	0	0	0	1	0	979	550	19	1	116	1	ARR3	23	69489951	Splice_Site	SNP	C	TCGA-N8-A4PM-01A-11D-A28R-08		69489951	85780609	65	2711										
HMGCL	3155	broad.mit.edu	37	chr1	24147025	24147025	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	cattttgtagtccatctcggGgaccaacttccacaattttc	6	12	1	0			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:24147025G>C	ENST00000374490.3	-	2	162	c.119C>G	c.(118-120)cCc>cGc	p.P40R	HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Missense_Mutation_p.P40R|HMGCL_ENST00000374483.4_Missense_Mutation_p.P15R	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	40					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)		TCCATCTCGGGGACCAACTTC	0.393																																						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.(43-45)cCc>cGc		3-hydroxymethyl-3-methylglutaryl-CoA lyase							164	144	151					1																	24147025		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.chr1:24147025G>C	BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"hydroxymethylglutaricaciduria"	613898	"3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.119C>G	1.37:g.24147025G>C	ENSP00000363614:p.Pro40Arg		Somatic				HMGCL_ENST00000374490.3_Missense_Mutation_p.P40R|HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Missense_Mutation_p.P40R	p.P15R			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)	3	715	-		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)	40					B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Missense_Mutation	SNP	ENST00000374490.3	37	c.44C>G	CCDS243.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.858774|4.858774	0.91433|0.91433	.|.	.|.	ENSG00000117305|ENSG00000117305	ENST00000235958|ENST00000374490;ENST00000436439;ENST00000374483;ENST00000543166	D|D;D;D	0.98617|0.98701	-5.03|-4.86;-5.08;-4.86	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (1);	0.139699|0.139699	0.64402|0.64402	N|D	0.000002|0.000002	D|D	0.97745|0.97745	0.9260|0.9260	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|P;D;D;D	.|0.89917	.|0.875;1.0;1.0;1.0	.|P;D;D;D	.|0.83275	.|0.894;0.996;0.996;0.996	D|D	0.99884|0.99884	1.1118|1.1118	8|10	0.38643|0.87932	T|D	0.18|0	-40.4961|-40.4961	17.8928|17.8928	0.88877|0.88877	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|40;40;15;40	.|B4DUP4;Q6IBC0;B1AK13;P35914	.|.;.;.;HMGCL_HUMAN	A|R	36|40;40;15;15	ENSP00000235958:P36A|ENSP00000363614:P40R;ENSP00000389281:P40R;ENSP00000363607:P15R	ENSP00000235958:P36A|ENSP00000363607:P15R	P|P	-|-	1|2	0|0	HMGCL|HMGCL	24019612|24019612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.891000|8.891000	0.92485|0.92485	2.759000|2.759000	0.94783|0.94783	0.558000|0.558000	0.71614|0.71614	CCC|CCC		0.393	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191		18	46	0	0	0	1	0	18	46					C	24147025	G	C	24147025	3	2	28	1	0	0	0	0	1	0	0	0	7238	1232	43	5	890	5	HMGCL	1	24147025	Missense_Mutation	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08		24147025	225103596	1	2712										
RHD	6007	broad.mit.edu	37	chr1	25627530	25627530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	tgccaaagcctctacccgagGgaacggaggataaagatcag	12	10	2	1			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:25627530G>A	ENST00000328664.4	+	4	735	c.580G>A	c.(580-582)Gga>Aga	p.G194R	RHD_ENST00000568195.1_Missense_Mutation_p.G194R|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000454452.2_Missense_Mutation_p.G194R|RHD_ENST00000417538.2_Missense_Mutation_p.G194R|RHD_ENST00000357542.4_Missense_Mutation_p.G194R|RHD_ENST00000423810.2_Missense_Mutation_p.G194R|RHD_ENST00000342055.5_Missense_Mutation_p.G194R	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	194						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTACCCGAGGGAACGGAGGA	0.532																																						ENST00000328664.4																			0				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14						c.(580-582)Gga>Aga		Rh blood group, D antigen							220	151	176					1																	25627530		2120	3739	5859	SO:0001583	missense	6007					integral to plasma membrane		g.chr1:25627530G>A	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"CD molecules", "Blood group antigens"	10009	protein-coding gene	gene with protein product		111680	"Rhesus blood group, D antigen", "Rh blood group, D antigen"	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.580G>A	1.37:g.25627530G>A	ENSP00000331871:p.Gly194Arg		Somatic				RHD_ENST00000342055.5_Missense_Mutation_p.G194R|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000417538.2_Missense_Mutation_p.G194R|RHD_ENST00000568195.1_Missense_Mutation_p.G194R|RHD_ENST00000454452.2_Missense_Mutation_p.G194R|RHD_ENST00000423810.2_Missense_Mutation_p.G194R|RHD_ENST00000357542.4_Missense_Mutation_p.G194R	p.G194R	NM_016124.3	NP_057208.2	WXS	Illumina GAIIx	Phase_I	Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	4	735	+		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)	194					Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	ENST00000328664.4	37	c.580G>A	CCDS262.1	.	.	.	.	.	.	.	.	.	.	.	11.07	1.529449	0.27387	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88	3.95	-0.576	0.11731	Ammonium transporter AmtB-like (3);	2.755210	0.00966	N	0.003178	T	0.31104	0.0786	N	0.24115	0.695	0.09310	N	1	B;B;D;B;B;B;B;B	0.65815	0.001;0.003;0.995;0.009;0.0;0.026;0.012;0.0	B;B;D;B;B;B;B;B	0.63283	0.008;0.014;0.913;0.021;0.005;0.01;0.021;0.005	T	0.39663	-0.9603	10	0.15066	T	0.55	15.1871	7.404	0.26981	0.4603:0.0:0.5397:0.0	.	194;194;194;194;194;194;194;194	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	R	194	ENSP00000331871:G194R;ENSP00000413849:G194R;ENSP00000339577:G194R;ENSP00000350150:G194R;ENSP00000396420:G194R;ENSP00000399640:G194R	ENSP00000331871:G194R	G	+	1	0	RHD	25500117	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.746000	0.04829	-0.050000	0.13356	0.393000	0.25936	GGA		0.532	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		48	46	0	0	0	1	0	48	46					A	25627530	G	A	25627530	3	1	28	1	0	0	0	0	1	0	0	0	13342	1233	43	3	594	3	RHD	1	25627530	Missense_Mutation	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08	1480505	25627530	223623091	2	2713										
FNDC5	252995	broad.mit.edu	37	chr1	33333378	33333378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	ccacatgaacaggaccacgaCgatgatcagcacctcgcctg	9	15	1	2	rs189231805		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:33333378C>T	ENST00000373471.3	-	4	541	c.475G>A	c.(475-477)Gtc>Atc	p.V159I	FNDC5_ENST00000496770.1_Missense_Mutation_p.V84I|FNDC5_ENST00000609187.1_Missense_Mutation_p.V84I	NM_001171940.1|NM_153756.2	NP_001165411.2|NP_715637.2	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	159					positive regulation of brown fat cell differentiation (GO:0090336)|response to muscle activity (GO:0014850)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGGACCACGACGATGATCAGC	0.552													C|||	1	0.000199681	0	0	5008	,	,		18559	0.001		0	False		,,,				2504	0					ENST00000373471.3																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(250-252)Gtc>Atc		fibronectin type III domain containing 5		C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	201	160	174		250,250,250	4.2	0.3	1		174	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	FNDC5	NM_001171940.1,NM_001171941.1,NM_153756.2	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	84/107,84/154,84/138	33333378	2,13004	2203	4300	6503	SO:0001583	missense	252995					integral to membrane|peroxisomal membrane		g.chr1:33333378C>T	AK092102	CCDS369.1, CCDS369.2, CCDS65483.1	1p34.3	2013-10-16			ENSG00000160097	ENSG00000160097		"Fibronectin type III domain containing"	20240	protein-coding gene	gene with protein product	"irisin"	611906				12384288, 22237023, 24120943	Standard	NM_153756		Approved	FRCP2	uc001bwg.3	Q8NAU1	OTTHUMG00000004015	ENST00000373471.3:c.475G>A	1.37:g.33333378C>T	ENSP00000362570:p.Val159Ile		Somatic					p.V84I	NM_001171940.1|NM_153756.2	NP_001165411.1|NP_715637.1	WXS	Illumina GAIIx	Phase_I	Q8NAU1	FNDC5_HUMAN			4	541	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	143			Fibronectin type-III.		A6NMC9|D3DPQ6|Q6P6D9|Q7Z676	Missense_Mutation	SNP	ENST00000373471.3	37	c.250G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.10	3.762296	0.69763	0.0	2.33E-4	ENSG00000160097	ENST00000373470;ENST00000373471	.	.	.	5.13	4.21	0.49690	.	0.128612	0.52532	N	0.000071	T	0.52419	0.1733	L	0.61218	1.895	0.51233	D	0.99991	B;B	0.33919	0.057;0.432	B;B	0.26094	0.012;0.066	T	0.57860	-0.7738	9	0.62326	D	0.03	-13.0377	13.6584	0.62352	0.0:0.9252:0.0:0.0748	.	84;143	Q8NAU1-3;Q8NAU1	.;FNDC5_HUMAN	I	84	.	ENSP00000362569:V84I	V	-	1	0	FNDC5	33105965	1.000000	0.71417	0.306000	0.25113	0.975000	0.68041	7.245000	0.78237	1.305000	0.44909	0.655000	0.94253	GTC		0.552	FNDC5-001	KNOWN	non_ATG_start|basic	protein_coding	protein_coding	OTTHUMT00000011467.3	NM_153756		37	23	0	0	0	1	0	37	23					T	33333378	C	T	33333378	3	4	28	1	0	0	0	0	1	0	0	0	5980	536	19	1	248	1	FNDC5	1	33333378	Missense_Mutation	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08	7705848	33333378	215917243	3	2714										
MRPL37	51253	broad.mit.edu	37	chr1	54681910	54681910	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	tgtttcaactgaataccacaGacctggactgtaacgagggt	10	9	1	2			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:54681910G>A	ENST00000360840.5	+	6	1164	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	MRPL37_ENST00000336230.6_Missense_Mutation_p.D232N|MRPL37_ENST00000605337.1_Missense_Mutation_p.D363N	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	363					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GAATACCACAGACCTGGACTG	0.512																																						ENST00000605337.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						c.(1087-1089)Gac>Aac		mitochondrial ribosomal protein L37							153	128	137					1																	54681910		2203	4300	6503	SO:0001583	missense	51253				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:54681910G>A	AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"Mitochondrial ribosomal proteins / large subunits"	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.1087G>A	1.37:g.54681910G>A	ENSP00000354086:p.Asp363Asn		Somatic				MRPL37_ENST00000336230.6_Missense_Mutation_p.D232N|MRPL37_ENST00000360840.5_Missense_Mutation_p.D363N	p.D363N			WXS	Illumina GAIIx	Phase_I	Q9BZE1	RM37_HUMAN			6	1135	+			363					Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	ENST00000360840.5	37	c.1087G>A	CCDS589.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753999	0.49362	.	.	ENSG00000116221	ENST00000360840;ENST00000329505;ENST00000336230	T;T	0.16743	2.32;2.32	5.38	5.38	0.77491	.	0.196852	0.52532	D	0.000079	T	0.22437	0.0541	L	0.52206	1.635	0.58432	D	0.999995	P;P;B	0.45531	0.86;0.549;0.426	B;B;B	0.43950	0.437;0.263;0.207	T	0.01553	-1.1326	10	0.22109	T	0.4	-10.7773	19.1228	0.93371	0.0:0.0:1.0:0.0	.	232;300;363	A6NHR2;E9PB99;Q9BZE1	.;.;RM37_HUMAN	N	363;300;232	ENSP00000354086:D363N;ENSP00000338526:D232N	ENSP00000328799:D300N	D	+	1	0	MRPL37	54454498	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	6.328000	0.72915	2.504000	0.84457	0.455000	0.32223	GAC		0.512	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491		30	49	0	0	0	1	0	30	49					A	54681910	G	A	54681910	3	1	28	1	0	0	0	0	1	0	0	0	9809	942	33	3	1109	3	MRPL37	1	54681910	Missense_Mutation	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08	21348532	54681910	194568711	4	2715										
SPTA1	6708	broad.mit.edu	37	chr1	158621165	158621165	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	agccttagttacctgccggaTttgagctccttctggtgtta	10	10	1	1			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:158621165T>A	ENST00000368147.4	-	24	3649	c.3469A>T	c.(3469-3471)Atc>Ttc	p.I1157F		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1157					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)					ACCTGCCGGATTTGAGCTCCT	0.453																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3469-3471)Atc>Ttc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							198	197	197					1																	158621165		1880	4109	5989	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.chr1:158621165T>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.3469A>T	1.37:g.158621165T>A	ENSP00000357129:p.Ile1157Phe		Somatic				SPTA1_ENST00000368147.3_Missense_Mutation_p.I1157F	p.I1157F	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			24	3649	-	all_hematologic(112;0.0378)		1157					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3469A>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.503487	0.44558	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50277	0.75;0.75	4.66	3.51	0.40186	.	.	.	.	.	T	0.39306	0.1073	M	0.82517	2.595	0.32074	N	0.594051	B	0.34255	0.445	P	0.46940	0.532	T	0.45264	-0.9273	9	0.10902	T	0.67	.	8.5306	0.33333	0.0:0.0:0.1957:0.8043	.	1157	P02549	SPTA1_HUMAN	F	1157	ENSP00000357130:I1157F;ENSP00000357129:I1157F	ENSP00000357129:I1157F	I	-	1	0	SPTA1	156887789	0.610000	0.26983	0.066000	0.19879	0.424000	0.31475	0.792000	0.26929	0.896000	0.36366	0.533000	0.62120	ATC		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		87	134	0	0	0	1	0	87	134					A	158621165	T	A	158621165	3	1	28	1	0	0	0	0	1	0	0	0	15131	1493	52	4	3906	4	SPTA1	1	158621165	Missense_Mutation	SNP	T	TCGA-N8-A4PN-01A-11D-A28R-08	103939255	158621165	90629456	5	2716										
DNM3	26052	broad.mit.edu	37	chr1	171958171	171958172	+	Frame_Shift_Ins	INS	-	-	A													0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	tatcgagtatcagatcagagINSaaatgattatgcagttcatc							TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:171958171_171958172insA	ENST00000355305.5	+	4	629_630	c.472_473insA	c.(472-474)gaafs	p.E158fs	DNM3_ENST00000520906.1_Frame_Shift_Ins_p.E158fs|DNM3_ENST00000358155.4_Frame_Shift_Ins_p.E158fs|DNM3_ENST00000367731.1_Frame_Shift_Ins_p.E158fs|DNM3_ENST00000367733.2_Frame_Shift_Ins_p.E158fs			Q9UQ16	DYN3_HUMAN	dynamin 3	158	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCAGATCAGAGAAATGATTATG	0.426																																						ENST00000358155.4																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(472-474)aatfs		dynamin 3																																				SO:0001589	frameshift_variant	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:171958171_171958172insA	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"Pleckstrin homology (PH) domain containing"	29125	protein-coding gene	gene with protein product	"Dyna III"	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.475dupA	1.37:g.171958174_171958174dupA	ENSP00000347457:p.Glu158fs		Somatic				DNM3_ENST00000367733.2_Frame_Shift_Ins_p.N158fs|DNM3_ENST00000367731.1_Frame_Shift_Ins_p.N158fs|DNM3_ENST00000520906.1_Frame_Shift_Ins_p.N158fs|DNM3_ENST00000355305.5_Frame_Shift_Ins_p.N158fs	p.N158fs	NM_015569.3	NP_056384.2	WXS	Illumina GAIIx	Phase_I	Q9UQ16	DYN3_HUMAN			4	648_649	+			158					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Frame_Shift_Ins	INS	ENST00000355305.5	37	c.472_473insA																																																																																					0.426	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		22	19						22	19	---	---	---	---	A	171958172	-	A	171958171	7	5	28	1	0	1	1	0	0	0	0	0	4675	943	33	0	486	0	DNM3	1	171958171	Frame_Shift_Ins	INS	-	TCGA-N8-A4PN-01A-11D-A28R-08	13337006	171958171	77292450	6	2717										
USH2A	7399	broad.mit.edu	37	chr1	216390848	216390848	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	ggcctgtgaccaagtgacagGtttcattcaaggctcctgag	12	10	2	3			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:216390848G>A	ENST00000307340.3	-	15	3424	c.3038C>T	c.(3037-3039)aCc>aTc	p.T1013I	USH2A_ENST00000366942.3_Missense_Mutation_p.T1013I|USH2A_ENST00000366943.2_Missense_Mutation_p.T1013I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1013	Laminin EGF-like 10. {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)		CAAGTGACAGGTTTCATTCAA	0.398										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(3037-3039)aCc>aTc		Usher syndrome 2A (autosomal recessive, mild)							81	75	77					1																	216390848		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.chr1:216390848G>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.3038C>T	1.37:g.216390848G>A	ENSP00000305941:p.Thr1013Ile	HNSCC(13;0.011)	Somatic				USH2A_ENST00000307340.3_Missense_Mutation_p.T1013I|USH2A_ENST00000366942.3_Missense_Mutation_p.T1013I	p.T1013I			WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	15	3424	-			1013			Laminin EGF-like 10.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3038C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490146	0.64074	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.62232	0.04;0.04;0.04	5.22	3.12	0.35913	EGF-like, laminin (3);	0.176607	0.26272	U	0.025324	T	0.66005	0.2746	L	0.28649	0.875	0.37872	D	0.930108	B;D	0.60160	0.292;0.987	B;P	0.61592	0.234;0.891	T	0.70048	-0.4979	10	0.38643	T	0.18	.	16.4698	0.84109	0.0:0.3675:0.6325:0.0	.	1013;1013	O75445-2;O75445	.;USH2A_HUMAN	I	1013	ENSP00000305941:T1013I;ENSP00000355910:T1013I;ENSP00000355909:T1013I	ENSP00000305941:T1013I	T	-	2	0	USH2A	214457471	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.136000	0.50554	1.136000	0.42199	0.591000	0.81541	ACC		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		26	26	0	0	0	1	0	26	26					A	216390848	G	A	216390848	3	1	28	1	0	0	0	0	1	0	0	0	17051	1261	44	3	12816	3	USH2A	1	216390848	Missense_Mutation	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08	44432677	216390848	32859773	7	2718										
RYR2	6262	broad.mit.edu	37	chr1	237886488	237886488	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	aagacttaccaaacaggactGatgatacctcagatccagag	8	10	1	5			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:237886488G>T	ENST00000366574.2	+	74	10932	c.10615G>T	c.(10615-10617)Gat>Tat	p.D3539Y	RYR2_ENST00000542537.1_Missense_Mutation_p.D3523Y|RYR2_ENST00000360064.6_Missense_Mutation_p.D3537Y|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3539					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)			AAACAGGACTGATGATACCTC	0.398																																						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.(10615-10617)Gat>Tat		ryanodine receptor 2 (cardiac)							183	172	175					1																	237886488		1868	4100	5968	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.chr1:237886488G>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.10615G>T	1.37:g.237886488G>T	ENSP00000355533:p.Asp3539Tyr		Somatic				RYR2_ENST00000360064.6_Missense_Mutation_p.D3537Y|RYR2_ENST00000542537.1_Missense_Mutation_p.D3523Y	p.D3539Y	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		74	10932	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3539					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10615G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093054	0.56075	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96651	-4.08;-4.05;-4.08	5.9	4.99	0.66335	.	0.167461	0.36482	N	0.002579	D	0.92916	0.7746	N	0.08118	0	0.80722	D	1	P	0.39480	0.675	P	0.46049	0.502	D	0.94130	0.7387	10	0.87932	D	0	-11.2112	15.3396	0.74284	0.067:0.0:0.933:0.0	.	3539	Q92736	RYR2_HUMAN	Y	3539;3537;3523;494	ENSP00000355533:D3539Y;ENSP00000353174:D3537Y;ENSP00000443798:D3523Y	ENSP00000353174:D3537Y	D	+	1	0	RYR2	235953111	1.000000	0.71417	0.431000	0.26735	0.975000	0.68041	9.539000	0.98076	1.509000	0.48786	0.455000	0.32223	GAT		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		31	98	1	0	7.35883e-32	1	8.00814e-32	31	98					T	237886488	G	T	237886488	3	4	28	1	0	0	0	0	1	0	0	0	13784	1290	45	2	10909	2	RYR2	1	237886488	Missense_Mutation	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08	21495640	237886488	11364133	8	2719										
DCTN1	1639	broad.mit.edu	37	chr2	74604816	74604816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	cagaagaatcaggtgtctctGgggaagtagtatctgctcca	12	8	3	2			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr2:74604816G>A	ENST00000361874.3	-	3	634	c.317C>T	c.(316-318)cCa>cTa	p.P106L	DCTN1_ENST00000407639.2_5'Flank|DCTN1_ENST00000394003.3_Missense_Mutation_p.P106L|DCTN1_ENST00000409868.1_Missense_Mutation_p.P89L|DCTN1_ENST00000409240.1_Missense_Mutation_p.P89L|DCTN1_ENST00000409438.1_5'Flank|DCTN1_ENST00000409567.3_Missense_Mutation_p.P106L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	106					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AGGTGTCTCTGGGGAAGTAGT	0.463																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(316-318)cCa>cTa		dynactin 1							150	152	152					2																	74604816		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74604816G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.317C>T	2.37:g.74604816G>A	ENSP00000354791:p.Pro106Leu		Somatic				DCTN1_ENST00000409567.3_Missense_Mutation_p.P106L|DCTN1_ENST00000409240.1_Missense_Mutation_p.P89L|DCTN1_ENST00000394003.3_Missense_Mutation_p.P106L|DCTN1_ENST00000409868.1_Missense_Mutation_p.P89L	p.P106L	NM_004082.4	NP_004073.2	WXS	Illumina GAIIx	Phase_I	Q14203	DCTN1_HUMAN			3	634	-			106					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.317C>T	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	33	5.287549	0.95517	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000409240;ENST00000409868;ENST00000409567;ENST00000458655;ENST00000454119;ENST00000417090	T;T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.17	5.17	0.71159	Cytoskeleton-associated protein, Gly-rich domain (1);	0.000000	0.42964	D	0.000631	T	0.78654	0.4317	N	0.24115	0.695	0.80722	D	1	D;B;D;D	0.89917	1.0;0.013;1.0;0.993	D;B;D;P	0.87578	0.998;0.035;0.994;0.838	T	0.79032	-0.1969	10	0.44086	T	0.13	-4.5159	17.5724	0.87939	0.0:0.0:1.0:0.0	.	106;89;106;106	E9PGE1;E9PFS5;Q14203;A8MY36	.;.;DCTN1_HUMAN;.	L	106;106;89;89;89;106;113;89;110	ENSP00000354791:P106L;ENSP00000377571:P106L;ENSP00000386406:P89L;ENSP00000387327:P89L;ENSP00000386843:P106L;ENSP00000414315:P113L;ENSP00000404038:P89L;ENSP00000402509:P110L	ENSP00000354791:P106L	P	-	2	0	DCTN1	74458324	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.112000	0.94314	2.680000	0.91292	0.655000	0.94253	CCA		0.463	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		21	100	0	0	0	1	0	21	100					A	74604816	G	A	74604816	3	1	28	1	0	0	0	0	1	0	0	0	4308	1348	47	3	3651	3	DCTN1	2	74604816	Missense_Mutation	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08		74604816	168594557	9	2720										
YSK4	80122	broad.mit.edu	37	chr2	135745259	135745259	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	ttctgaatgctgggtttcttGgaacttgcttggaatggtac	12	6	2	1			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr2:135745259G>A	ENST00000375845.3	-	7	1213	c.1183C>T	c.(1183-1185)Caa>Taa	p.Q395*	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.Q282*|MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.Q412*|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	395							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TGGGTTTCTTGGAACTTGCTT	0.343																																						ENST00000375845.3																			0											c.(1183-1185)Caa>Taa		mitogen-activated protein kinase kinase kinase 19							93	93	93					2																	135745259		2203	4299	6502	SO:0001587	stop_gained	80122							g.chr2:135745259G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1183C>T	2.37:g.135745259G>A	ENSP00000365005:p.Gln395*		Somatic				MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.Q282*|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.Q412*	p.Q395*	NM_025052.3	NP_079328.3	WXS	Illumina GAIIx	Phase_I					7	1213	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Nonsense_Mutation	SNP	ENST00000375845.3	37	c.1183C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345867	0.61073	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	.	.	.	4.57	4.57	0.56435	.	0.990465	0.08190	N	0.984005	.	.	.	.	.	.	0.21553	N	0.999642	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	5.18	0.15156	0.1068:0.0:0.686:0.2072	.	.	.	.	X	395;282;412	.	ENSP00000351140:Q282X	Q	-	1	0	YSK4	135461729	0.516000	0.26218	0.724000	0.30704	0.238000	0.25445	1.476000	0.35420	2.356000	0.79943	0.460000	0.39030	CAA		0.343	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		19	72	0	0	0	1	0	19	72					A	135745259	G	A	135745259	4	1	28	1	0	0	0	0	0	1	0	0	17510	1357	47	3	2819	3	YSK4	2	135745259	Nonsense_Mutation	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08	61140443	135745259	107454114	10	2721										
COL3A1	1281	broad.mit.edu	37	chr2	189854844	189854844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	agaatcaggtagacccggacGacctggagagcgaggattgc	15	9	1	3			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr2:189854844G>A	ENST00000304636.3	+	9	883	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	COL3A1_ENST00000317840.5_Missense_Mutation_p.R238Q	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	238	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)	AGACCCGGACGACCTGGAGAG	0.388																																						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.(712-714)cGa>cAa		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						69	72	71					2																	189854844		2202	4300	6502	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.chr2:189854844G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.713G>A	2.37:g.189854844G>A	ENSP00000304408:p.Arg238Gln		Somatic				COL3A1_ENST00000317840.5_Missense_Mutation_p.R238Q	p.R238Q	NM_000090.3	NP_000081.1	WXS	Illumina GAIIx	Phase_I	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		9	883	+			238			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.713G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892385	0.72524	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.93811	-3.29;-3.29	5.68	5.68	0.88126	.	0.000000	0.42420	D	0.000707	D	0.93028	0.7781	N	0.20685	0.6	0.42985	D	0.994475	D	0.64830	0.994	D	0.63192	0.912	D	0.90303	0.4331	10	0.17369	T	0.5	.	20.1553	0.98111	0.0:0.0:1.0:0.0	.	238	P02461	CO3A1_HUMAN	Q	238	ENSP00000304408:R238Q;ENSP00000315243:R238Q	ENSP00000304408:R238Q	R	+	2	0	COL3A1	189563089	0.998000	0.40836	0.982000	0.44146	0.937000	0.57800	4.929000	0.63455	2.838000	0.97847	0.591000	0.81541	CGA		0.388	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		13	29	0	0	0	1	0	13	29					A	189854844	G	A	189854844	3	1	28	1	0	0	0	0	1	0	0	0	3690	1058	37	1	747	1	COL3A1	2	189854844	Missense_Mutation	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08	54109585	189854844	53344529	11	2722										
MAP2	4133	broad.mit.edu	37	chr2	210557510	210557510	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	ctcagccagagacaactaaaActtaccctgataaaaaggac	6	11	1	2			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr2:210557510A>C	ENST00000360351.4	+	7	1122	c.616A>C	c.(616-618)Act>Cct	p.T206P	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.T202P|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	206					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)	GACAACTAAAACTTACCCTGA	0.458																																					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.(616-618)Act>Cct		microtubule-associated protein 2	Estramustine(DB01196)						85	82	83					2																	210557510		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.chr2:210557510A>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.616A>C	2.37:g.210557510A>C	ENSP00000353508:p.Thr206Pro		Somatic				MAP2_ENST00000447185.1_Missense_Mutation_p.T202P|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	p.T206P	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	1122	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	206					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.616A>C	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.857779	0.51376	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.28895	3.08;1.59;3.08	5.98	4.83	0.62350	.	0.633748	0.15642	N	0.251827	T	0.31451	0.0797	L	0.56769	1.78	0.09310	N	1	P;P	0.40875	0.731;0.612	P;B	0.44359	0.447;0.261	T	0.45629	-0.9248	10	0.87932	D	0	0.3931	1.8291	0.03127	0.581:0.1394:0.1461:0.1335	.	202;206	P11137-3;P11137	.;MAP2_HUMAN	P	206;288;202	ENSP00000353508:T206P;ENSP00000409969:T288P;ENSP00000392164:T202P	ENSP00000353508:T206P	T	+	1	0	MAP2	210265755	0.008000	0.16893	0.005000	0.12908	0.028000	0.11728	0.686000	0.25392	1.088000	0.41272	-0.256000	0.11100	ACT		0.458	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		20	39	0	0	0	1	0	20	39					C	210557510	A	C	210557510	3	2	28	1	0	0	0	0	1	0	0	0	9244	43	2	4	630	4	MAP2	2	210557510	Missense_Mutation	SNP	A	TCGA-N8-A4PN-01A-11D-A28R-08	20702666	210557510	32641863	12	2723										
ARPP21	10777	broad.mit.edu	37	chr3	35729358	35729358	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	aacctctgaaaaacccaagaTcagaatgttatcaaaaggtg	7	8	3	3			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:35729358T>C	ENST00000187397.4	+	6	845	c.389T>C	c.(388-390)aTc>aCc	p.I130T	ARPP21_ENST00000337271.5_Missense_Mutation_p.I130T|ARPP21_ENST00000417925.1_Missense_Mutation_p.I130T|ARPP21_ENST00000458225.1_Missense_Mutation_p.I130T|ARPP21_ENST00000444190.1_Missense_Mutation_p.I130T	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	130					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						AAACCCAAGATCAGAATGTTA	0.338																																						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.(388-390)aTc>aCc		cAMP-regulated phosphoprotein, 21kDa							109	117	114					3																	35729358		2203	4299	6502	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35729358T>C	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.389T>C	3.37:g.35729358T>C	ENSP00000187397:p.Ile130Thr		Somatic				ARPP21_ENST00000417925.1_Missense_Mutation_p.I130T|ARPP21_ENST00000458225.1_Missense_Mutation_p.I130T|ARPP21_ENST00000444190.1_Missense_Mutation_p.I130T|ARPP21_ENST00000337271.5_Missense_Mutation_p.I130T	p.I130T	NM_016300.4	NP_057384.2	WXS	Illumina GAIIx	Phase_I	Q9UBL0	ARP21_HUMAN			6	845	+			130					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.389T>C	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	T	7.550	0.662435	0.14645	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.21932	2.01;1.98;1.98;1.99;2.01	5.69	3.18	0.36537	.	0.330675	0.29558	N	0.011817	T	0.09949	0.0244	N	0.14661	0.345	0.34858	D	0.742297	B;B;B	0.22146	0.063;0.065;0.029	B;B;B	0.18871	0.023;0.01;0.015	T	0.17561	-1.0365	9	.	.	.	-21.4555	6.9146	0.24354	0.1349:0.0757:0.0:0.7894	.	130;130;130	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	T	130	ENSP00000414351:I130T;ENSP00000337792:I130T;ENSP00000405276:I130T;ENSP00000187397:I130T;ENSP00000412326:I130T	.	I	+	2	0	ARPP21	35704362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.634000	0.46528	2.167000	0.68274	0.477000	0.44152	ATC		0.338	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		69	99	0	0	0	1	0	69	99					C	35729358	T	C	35729358	3	2	28	1	0	0	0	0	1	0	0	0	978	1435	50	4	416	4	ARPP21	3	35729358	Missense_Mutation	SNP	T	TCGA-N8-A4PN-01A-11D-A28R-08		35729358	162293072	13	2724										
PLCD1	5333	broad.mit.edu	37	chr3	38050773	38050773	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	caggcctcacctgattcttgGagcagtcgaagggcacggtt	13	11	2	1			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:38050773G>A	ENST00000334661.4	-	10	1818	c.1596C>T	c.(1594-1596)ctC>ctT	p.L532L	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Silent_p.L553L	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	532	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CTGATTCTTGGAGCAGTCGAA	0.612																																						ENST00000463876.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.(1657-1659)ctC>ctT		phospholipase C, delta 1							75	80	78					3																	38050773		2203	4300	6503	SO:0001819	synonymous_variant	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38050773G>A		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1596C>T	3.37:g.38050773G>A			Somatic				PLCD1_ENST00000334661.4_Silent_p.L532L	p.L553L	NM_001130964.1	NP_001124436.1	WXS	Illumina GAIIx	Phase_I	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	10	2012	-			532			PI-PLC Y-box.		B3KR14|Q86VN8	Silent	SNP	ENST00000334661.4	37	c.1659C>T	CCDS2671.1																																																																																				0.612	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			27	126	0	0	0	1	0	27	126					A	38050773	G	A	38050773	2	1	28	1	0	0	0	0	0	0	0	1	12040	1161	41	3		3	PLCD1	3	38050773	Silent	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08	2321415	38050773	159971657	14	2725										
COL7A1	1294	broad.mit.edu	37	chr3	48613108	48613108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	agtcccccttggggcctcgaCgccgttcgggcacaggcagg	15	15	0	0	rs182669506	byFrequency	TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:48613108C>T	ENST00000328333.8	-	72	6037	c.5930G>A	c.(5929-5931)cGt>cAt	p.R1977H	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1945H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1977	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)		GGGGCCTCGACGCCGTTCGGG	0.652																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(5929-5931)cGt>cAt		collagen, type VII, alpha 1							50	51	50					3																	48613108		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48613108C>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.5930G>A	3.37:g.48613108C>T	ENSP00000332371:p.Arg1977His		Somatic				COL7A1_ENST00000454817.1_Missense_Mutation_p.R1945H	p.R1977H	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)	72	6037	-			1977			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.5930G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613179	0.28712	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.85861	-2.04;-2.02	4.64	1.74	0.24563	.	0.751302	0.10781	N	0.634869	T	0.81631	0.4863	M	0.69823	2.125	0.09310	N	1	P	0.36837	0.571	B	0.35114	0.196	T	0.69807	-0.5045	10	0.42905	T	0.14	.	6.6248	0.22823	0.2253:0.6214:0.0:0.1533	.	1977	Q02388	CO7A1_HUMAN	H	1977;1945	ENSP00000332371:R1977H;ENSP00000412569:R1945H	ENSP00000332371:R1977H	R	-	2	0	COL7A1	48588112	0.000000	0.05858	0.069000	0.20011	0.198000	0.23893	-0.137000	0.10389	0.573000	0.29400	0.655000	0.94253	CGT		0.652	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		23	90	0	0	0	1	0	23	90					T	48613108	C	T	48613108	3	4	28	1	0	0	0	0	1	0	0	0	3706	536	19	1	3092	1	COL7A1	3	48613108	Missense_Mutation	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08	10562335	48613108	149409322	15	2726										
ARHGEF3	50650	broad.mit.edu	37	chr3	56779411	56779411	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	ggaaatcctggactcggtgaTcttgctttttgtggtccagc	12	9	1	1			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:56779411T>C	ENST00000296315.3	-	7	860	c.692A>G	c.(691-693)gAt>gGt	p.D231G	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.D237G|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.D237G|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.D202G|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.D231G|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.D263G	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	231	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GACTCGGTGATCTTGCTTTTT	0.483																																						ENST00000413728.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25						c.(709-711)gAt>gGt		Rho guanine nucleotide exchange factor (GEF) 3							168	177	174					3																	56779411		2203	4300	6503	SO:0001583	missense	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56779411T>C	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"Rho guanine nucleotide exchange factors"	683	protein-coding gene	gene with protein product	"exchange factor found in platelets and leukemic and neuronal tissues, XPLN", "RhoGEF protein"	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.692A>G	3.37:g.56779411T>C	ENSP00000296315:p.Asp231Gly		Somatic				ARHGEF3_ENST00000338458.4_Missense_Mutation_p.D263G|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.D231G|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.D231G|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.D237G|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.D202G	p.D237G	NM_001128616.1	NP_001122088.1	WXS	Illumina GAIIx	Phase_I	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	7	1253	-			231			DH.		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	c.710A>G	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.776842	0.90195	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.85	5.85	0.93711	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	M	0.83953	2.67	0.80722	D	1	D;P;P;D;P;D;D	0.63880	0.993;0.955;0.944;0.987;0.944;0.987;0.983	D;P;P;P;P;D;P	0.67231	0.95;0.849;0.765;0.903;0.78;0.927;0.88	T	0.64537	-0.6384	10	0.72032	D	0.01	-11.1914	16.5479	0.84454	0.0:0.0:0.0:1.0	.	237;202;29;231;263;231;237	E9PG37;E7EU49;Q9NR81-4;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;.;ARHG3_HUMAN;.	G	231;263;237;237;202;231	ENSP00000296315:D231G;ENSP00000341071:D263G;ENSP00000410922:D237G;ENSP00000420420:D237G;ENSP00000418826:D202G;ENSP00000417986:D231G	ENSP00000296315:D231G	D	-	2	0	ARHGEF3	56754451	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAT		0.483	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		131	313	0	0	0	1	0	131	313					C	56779411	T	C	56779411	3	2	28	1	0	0	0	0	1	0	0	0	904	1435	50	4	904	4	ARHGEF3	3	56779411	Missense_Mutation	SNP	T	TCGA-N8-A4PN-01A-11D-A28R-08	8166303	56779411	141243019	16	2727										
MAGI1	9223	broad.mit.edu	37	chr3	65425585	65425585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	tgctgctgctgctgctgctgCtgctgttgctgctgctgttg	14	11	0	0	rs374381483		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:65425585C>T	ENST00000497477.2	-	9	1238	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000330909.8_Silent_p.Q413Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	413	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgctgttgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(1237-1239)caG>caA		membrane associated guanylate kinase, WW and PDZ domain containing 1							58	58	58					3																	65425585		2194	4275	6469	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425585C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1239G>A	3.37:g.65425585C>T			Somatic	OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q413Q	p.Q413Q	NM_015520.1	NP_056335.1	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)	9	1238	-		Lung NSC(201;0.0016)	413			Poly-Gln.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1239G>A		.	.	.	.	.	.	.	.	.	.	c	3.068	-0.191851	0.06299	.	.	ENSG00000151276	ENST00000460329	.	.	.	3.77	0.926	0.19430	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.40284	D	0.978435	.	.	.	.	.	.	T	0.25537	-1.0129	4	.	.	.	.	1.7198	0.02909	0.14:0.458:0.1372:0.2649	.	.	.	.	N	294	.	.	S	-	2	0	MAGI1	65400625	0.998000	0.40836	0.281000	0.24762	0.028000	0.11728	0.481000	0.22260	0.070000	0.16634	-0.142000	0.14014	AGC		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		4	159	0	0	0	1	0	4	159					T	65425585	C	T	65425585	2	4	28	1	0	0	0	0	0	0	0	1	9199	796	28	3		3	MAGI1	3	65425585	Silent	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08	8646174	65425585	132596845	17	2728										
SPATA16	83893	broad.mit.edu	37	chr3	172835309	172835309	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	tctaaatcattgctttgtttTtctttgatgccctttgtcat	5	8	4	1			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:172835309T>A	ENST00000351008.3	-	2	396	c.213A>T	c.(211-213)gaA>gaT	p.E71D		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	71					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)			TGCTTTGTTTTTCTTTGATGC	0.368																																						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.(211-213)gaA>gaT		spermatogenesis associated 16							350	331	338					3																	172835309		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172835309T>A	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.213A>T	3.37:g.172835309T>A	ENSP00000341765:p.Glu71Asp		Somatic					p.E71D	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	396	-	Ovarian(172;0.00319)|Breast(254;0.197)		71					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.213A>T	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974821	0.53720	.	.	ENSG00000144962	ENST00000351008	T	0.23147	1.92	5.27	2.86	0.33363	.	0.000000	0.56097	D	0.000037	T	0.24198	0.0586	L	0.29908	0.895	0.30443	N	0.775987	P	0.49559	0.925	P	0.49597	0.616	T	0.09796	-1.0658	10	0.87932	D	0	-14.3152	8.5244	0.33296	0.0:0.1575:0.0:0.8425	.	71	Q9BXB7	SPT16_HUMAN	D	71	ENSP00000341765:E71D	ENSP00000341765:E71D	E	-	3	2	SPATA16	174318003	0.833000	0.29383	1.000000	0.80357	0.993000	0.82548	-0.396000	0.07278	0.836000	0.34901	-0.280000	0.10049	GAA		0.368	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		29	210	0	0	0	1	0	29	210					A	172835309	T	A	172835309	3	1	28	1	0	0	0	0	1	0	0	0	15016	1838	64	4	1536	4	SPATA16	3	172835309	Missense_Mutation	SNP	T	TCGA-N8-A4PN-01A-11D-A28R-08	107409724	172835309	25187121	18	2729										
LRRC15	131578	broad.mit.edu	37	chr3	194081584	194081584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	tcattgagttcagtgatgtgCgtgttgaggatctgcaggct	14	6	3	3	rs370128213		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:194081584C>T	ENST00000347624.3	-	2	274	c.189G>A	c.(187-189)acG>acA	p.T63T	LRRC15_ENST00000439944.2_Silent_p.T69T|LRRC15_ENST00000428839.1_Silent_p.T69T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	63					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)		CAGTGATGTGCGTGTTGAGGA	0.612													C|||	1	0.000199681	0	0	5008	,	,		21958	0.001		0	False		,,,				2504	0					ENST00000347624.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(187-189)acG>acA		leucine rich repeat containing 15		C	,	1,4405	2.1+/-5.4	0,1,2202	89	66	74		207,189	-10.1	0	3		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LRRC15	NM_001135057.2,NM_130830.4	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	69/588,63/582	194081584	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	131578					integral to membrane		g.chr3:194081584C>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.189G>A	3.37:g.194081584C>T			Somatic				LRRC15_ENST00000428839.1_Silent_p.T69T|LRRC15_ENST00000439944.2_Silent_p.T69T	p.T63T	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	274	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		63					Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	c.189G>A	CCDS3306.1																																																																																				0.612	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			27	60	0	0	0	1	0	27	60					T	194081584	C	T	194081584	2	4	28	1	0	0	0	0	0	0	0	1	8979	755	27	1		1	LRRC15	3	194081584	Silent	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08	21246275	194081584	3940846	19	2730										
OTOP1	133060	broad.mit.edu	37	chr4	4204203	4204203	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	atgttcccaaaacccagagtGatgagccgttccttgtgctc	9	12	0	3			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:4204203G>C	ENST00000296358.4	-	4	726	c.702C>G	c.(700-702)atC>atG	p.I234M		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	234					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AACCCAGAGTGATGAGCCGTT	0.517																																						ENST00000296358.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(700-702)atC>atG		otopetrin 1							133	115	121					4																	4204203		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4204203G>C	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.702C>G	4.37:g.4204203G>C	ENSP00000296358:p.Ile234Met		Somatic					p.I234M	NM_177998.1	NP_819056.1	WXS	Illumina GAIIx	Phase_I	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	4	726	-			234					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.702C>G	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	5.080	0.200503	0.09652	.	.	ENSG00000163982	ENST00000296358	T	0.08634	3.07	5.28	2.41	0.29592	.	0.292428	0.36932	N	0.002322	T	0.04048	0.0113	N	0.08118	0	0.43885	D	0.996508	P	0.35684	0.515	B	0.33392	0.163	T	0.50346	-0.8839	10	0.51188	T	0.08	.	8.8831	0.35387	0.1311:0.2683:0.6006:0.0	.	234	Q7RTM1	OTOP1_HUMAN	M	234	ENSP00000296358:I234M	ENSP00000296358:I234M	I	-	3	3	OTOP1	4255104	0.985000	0.35326	0.897000	0.35233	0.184000	0.23303	0.205000	0.17356	1.196000	0.43129	0.603000	0.83216	ATC		0.517	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		29	78	0	0	0	1	0	29	78					C	4204203	G	C	4204203	3	2	28	1	0	0	0	0	1	0	0	0	11314	1280	45	2	1148	2	OTOP1	4	4204203	Missense_Mutation	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08		4204203	186950073	20	2731										
HELQ	113510	broad.mit.edu	37	chr4	84348767	84348767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	cactgtgaaaccagatcataGggggttgttaggtagattag	13	5	1	3			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:84348767G>A	ENST00000295488.3	-	13	2787	c.2625C>T	c.(2623-2625)ccC>ccT	p.P875P	HELQ_ENST00000510985.1_Silent_p.P808P	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	875					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						CCAGATCATAGGGGGTTGTTA	0.373								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.(2623-2625)ccC>ccT	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like							104	103	103					4																	84348767		2203	4300	6503	SO:0001819	synonymous_variant	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84348767G>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.2625C>T	4.37:g.84348767G>A			Somatic				HELQ_ENST00000510985.1_Silent_p.P808P	p.P875P	NM_133636.2	NP_598375.2	WXS	Illumina GAIIx	Phase_I	Q8TDG4	HELQ_HUMAN			13	2787	-			875					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	ENST00000295488.3	37	c.2625C>T	CCDS3603.1																																																																																				0.373	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		59	40	0	0	0	1	0	59	40					A	84348767	G	A	84348767	2	1	28	1	0	0	0	0	0	0	0	1	7056	987	35	3		3	HELQ	4	84348767	Silent	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08	80144564	84348767	106805509	21	2732										
ANXA5	308	broad.mit.edu	37	chr4	122590823	122590823	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	ttcctgatgttaaacagatcAatctcactcctggaaaccat	5	11	2	2			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:122590823A>C	ENST00000296511.5	-	12	1122	c.837T>G	c.(835-837)atT>atG	p.I279M	ANXA5_ENST00000515017.1_Missense_Mutation_p.I179M|ANXA5_ENST00000501272.2_Missense_Mutation_p.I219M	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	279				I -> T (in Ref. 13; AAH18671). {ECO:0000305}.	blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						TAAACAGATCAATCTCACTCC	0.358																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	ENST00000296511.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(835-837)atT>atG		annexin A5							105	108	107					4																	122590823		2203	4300	6503	SO:0001583	missense	308				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr4:122590823A>C	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"Annexins"	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.837T>G	4.37:g.122590823A>C	ENSP00000296511:p.Ile279Met		Somatic				ANXA5_ENST00000515017.1_Missense_Mutation_p.I179M|ANXA5_ENST00000501272.2_Missense_Mutation_p.I219M	p.I279M	NM_001154.3	NP_001145.1	WXS	Illumina GAIIx	Phase_I	P08758	ANXA5_HUMAN			12	1122	-			279	I -> T (in Ref. 13; AAH18671).				D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Missense_Mutation	SNP	ENST00000296511.5	37	c.837T>G	CCDS3720.1	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447632	0.63178	.	.	ENSG00000164111	ENST00000296511;ENST00000501272;ENST00000515017	T;T;T	0.13307	2.6;2.6;2.6	6.06	-9.46	0.00597	Annexin repeat, conserved site (1);	0.274183	0.41712	D	0.000824	T	0.15825	0.0381	M	0.74881	2.28	0.28819	N	0.897815	P;B;P	0.34815	0.47;0.249;0.458	B;B;B	0.42738	0.323;0.37;0.396	T	0.14980	-1.0453	10	0.72032	D	0.01	.	10.0258	0.42070	0.2873:0.0804:0.5529:0.0793	.	179;219;279	D6RBE9;D6RBL5;P08758	.;.;ANXA5_HUMAN	M	279;219;179	ENSP00000296511:I279M;ENSP00000424106:I219M;ENSP00000424199:I179M	ENSP00000296511:I279M	I	-	3	3	ANXA5	122810273	0.236000	0.23804	0.678000	0.29963	0.931000	0.56810	-0.434000	0.06939	-1.108000	0.03000	0.533000	0.62120	ATT		0.358	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154		24	52	0	0	0	1	0	24	52					C	122590823	A	C	122590823	3	2	28	1	0	0	0	0	1	0	0	0	721	126	5	4	133	4	ANXA5	4	122590823	Missense_Mutation	SNP	A	TCGA-N8-A4PN-01A-11D-A28R-08	38242056	122590823	68563453	22	2733										
ANKRD50	57182	broad.mit.edu	37	chr4	125591785	125591785	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	ttgtgaagctaatatgaaagGgattcgtccatcattgtcaa	9	6	2	2			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:125591785G>T	ENST00000504087.1	-	4	3684	c.2647C>A	c.(2647-2649)Cct>Act	p.P883T	ANKRD50_ENST00000515641.1_Missense_Mutation_p.P704T	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	883										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						AATATGAAAGGGATTCGTCCA	0.373																																						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.(2647-2649)Cct>Act		ankyrin repeat domain 50							151	149	150					4																	125591785		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125591785G>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.2647C>A	4.37:g.125591785G>T	ENSP00000425658:p.Pro883Thr		Somatic				ANKRD50_ENST00000515641.1_Missense_Mutation_p.P704T	p.P883T	NM_020337.2	NP_065070.1	WXS	Illumina GAIIx	Phase_I	Q9ULJ7	ANR50_HUMAN			4	3684	-			883					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.2647C>A	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.727167	0.30593	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.79940	-1.32;-1.32	5.13	4.29	0.51040	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	H	0.95470	3.675	0.52099	D	0.999949	P	0.42375	0.778	P	0.51101	0.659	D	0.90865	0.4741	10	0.87932	D	0	.	10.3212	0.43767	0.0736:0.1351:0.7913:0.0	.	883	Q9ULJ7	ANR50_HUMAN	T	883;704	ENSP00000425658:P883T;ENSP00000425355:P704T	ENSP00000425658:P883T	P	-	1	0	ANKRD50	125811235	1.000000	0.71417	0.490000	0.27465	0.991000	0.79684	5.973000	0.70456	1.391000	0.46566	0.561000	0.74099	CCT		0.373	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		24	90	1	0	6.44725e-10	1	6.81567e-10	24	90					T	125591785	G	T	125591785	3	4	28	1	0	0	0	0	1	0	0	0	677	1232	43	5	1646	5	ANKRD50	4	125591785	Missense_Mutation	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08	3000962	125591785	65562491	23	2734										
NR3C2	4306	broad.mit.edu	37	chr4	149356963	149356963	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	tcccgcaatgtactggatccAgcagaggtgccagaagcagt	12	11	0	2			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:149356963A>G	ENST00000358102.3	-	2	1412	c.1050T>C	c.(1048-1050)gcT>gcC	p.A350A	NR3C2_ENST00000512865.1_Silent_p.A350A|NR3C2_ENST00000511528.1_Silent_p.A350A|NR3C2_ENST00000344721.4_Silent_p.A350A|NR3C2_ENST00000355292.3_Silent_p.A350A	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	350	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TACTGGATCCAGCAGAGGTGC	0.522																																					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.(1048-1050)gcT>gcC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						100	96	97					4																	149356963		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149356963A>G	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.1050T>C	4.37:g.149356963A>G			Somatic				NR3C2_ENST00000512865.1_Silent_p.A350A|NR3C2_ENST00000511528.1_Silent_p.A350A|NR3C2_ENST00000358102.3_Silent_p.A350A|NR3C2_ENST00000344721.4_Silent_p.A350A|NR3C2_ENST00000342437.4_Silent_p.A350A	p.A350A			WXS	Illumina GAIIx	Phase_I	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	1412	-	all_hematologic(180;0.151)		350			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.1050T>C	CCDS3772.1																																																																																				0.522	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			25	67	0	0	0	1	0	25	67					G	149356963	A	G	149356963	2	3	28	1	0	0	0	0	0	0	0	1	10640	175	7	4		4	NR3C2	4	149356963	Silent	SNP	A	TCGA-N8-A4PN-01A-11D-A28R-08	23765178	149356963	41797313	24	2735										
FBXW7	55294	broad.mit.edu	37	chr4	153250867	153250867	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	cttttaaagtgttgtcatcaGaaccactaactattcggtta	6	8	2	1			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:153250867G>A	ENST00000281708.4	-	8	2422	c.1193C>T	c.(1192-1194)tCt>tTt	p.S398F	FBXW7_ENST00000393956.3_Missense_Mutation_p.S222F|FBXW7_ENST00000263981.5_Missense_Mutation_p.S318F|FBXW7_ENST00000296555.5_Missense_Mutation_p.S280F|FBXW7_ENST00000603841.1_Missense_Mutation_p.S398F|FBXW7_ENST00000603548.1_Missense_Mutation_p.S398F	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	398					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTTGTCATCAGAACCACTAAC	0.358			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1192-1194)tCt>tTt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							117	106	109					4																	153250867		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153250867G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1193C>T	4.37:g.153250867G>A	ENSP00000281708:p.Ser398Phe		Somatic				FBXW7_ENST00000603548.1_Missense_Mutation_p.S398F|FBXW7_ENST00000603841.1_Missense_Mutation_p.S398F|FBXW7_ENST00000393956.3_Missense_Mutation_p.S222F|FBXW7_ENST00000263981.5_Missense_Mutation_p.S318F|FBXW7_ENST00000296555.5_Missense_Mutation_p.S280F	p.S398F	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			8	2422	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	398					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1193C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707795	0.89018	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	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	0.91418	0.7292	H	0.96208	3.785	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;0.998;0.998	D	0.92746	0.6212	10	0.62326	D	0.03	-12.127	20.5373	0.99239	0.0:0.0:1.0:0.0	.	222;398;280;318	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	F	398;280;318;222	ENSP00000281708:S398F;ENSP00000296555:S280F;ENSP00000263981:S318F;ENSP00000377528:S222F	ENSP00000263981:S318F	S	-	2	0	FBXW7	153470317	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.865000	0.99609	2.857000	0.98124	0.650000	0.86243	TCT		0.358	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			59	28	0	0	0	1	0	59	28					A	153250867	G	A	153250867	3	1	28	1	0	0	0	0	1	0	0	0	5777	942	33	3	950	3	FBXW7	4	153250867	Missense_Mutation	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08	3893904	153250867	37903409	25	2736										
PIK3R1	5295	broad.mit.edu	37	chr5	67589585	67589586	+	In_Frame_Ins	INS	-	-	ATG													0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	agctgtagggaaaaaattacINSatgaatataacactcagttt							TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr5:67589585_67589586insATG	ENST00000521381.1	+	11	1964_1965	c.1348_1349insATG	c.(1348-1350)cat>cATGat	p.450_451insD	PIK3R1_ENST00000320694.8_In_Frame_Ins_p.150_151insD|PIK3R1_ENST00000396611.1_In_Frame_Ins_p.450_451insD|PIK3R1_ENST00000336483.5_In_Frame_Ins_p.180_181insD|PIK3R1_ENST00000523872.1_In_Frame_Ins_p.87_88insD|PIK3R1_ENST00000521657.1_In_Frame_Ins_p.450_451insD|PIK3R1_ENST00000274335.5_In_Frame_Ins_p.450_451insD	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	450			E -> K (in dbSNP:rs17852841). {ECO:0000269|PubMed:15489334}.		B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.H450_E451del(2)|p.G446_Y452>VI(1)|p.0?(1)|p.?(1)|p.E451_Y452delEY(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GAAAAAATTACATGAATATAAC	0.282			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		6	Deletion - In frame(3)|Whole gene deletion(1)|Complex - deletion inframe(1)|Unknown(1)	p.H450_E451del(2)|p.G446_Y452>VI(1)|p.0?(1)|p.?(1)|p.E451_Y452delEY(1)	large_intestine(2)|central_nervous_system(2)|lung(1)|endometrium(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1348-1350)tga>ATGtga		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001652	inframe_insertion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589585_67589586insATG	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1349_1351dupATG	5.37:g.67589586_67589588dupATG	ENSP00000428056:p.His450_Glu451insAsp	TCGA GBM(4;<1E-08)	Somatic				PIK3R1_ENST00000521657.1_In_Frame_Ins_p.449_450insM|PIK3R1_ENST00000274335.5_In_Frame_Ins_p.449_450insM|PIK3R1_ENST00000320694.8_In_Frame_Ins_p.149_150insM|PIK3R1_ENST00000396611.1_In_Frame_Ins_p.449_450insM|PIK3R1_ENST00000523872.1_In_Frame_Ins_p.86_87insM|PIK3R1_ENST00000336483.5_In_Frame_Ins_p.179_180insM	p.449_450insM	NM_181523.2	NP_852664.1	WXS	Illumina GAIIx	Phase_I	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	1964_1965	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	449					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Ins	INS	ENST00000521381.1	37	c.1348_1349insATG	CCDS3993.1																																																																																				0.282	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		24	21						24	21	---	---	---	---	ATG	67589586	-	ATG	67589585	7	5	28	1	0	1	1	0	0	0	0	0	11927	478	17	0	1516	0	PIK3R1	5	67589585	In_Frame_Ins	INS	-	TCGA-N8-A4PN-01A-11D-A28R-08		67589585	113325675	26	2737										
C5orf40	408263	broad.mit.edu	37	chr5	156769995	156769995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	atctctggagttcttgcgtgGcatttccaccagggggagcc	13	11	2	0			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr5:156769995G>A	ENST00000312349.4	-	2	737	c.550C>T	c.(550-552)Cca>Tca	p.P184S	CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	184						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TTCTTGCGTGGCATTTCCACC	0.632											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000312349.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(550-552)Cca>Tca		fibronectin type III domain containing 9							75	79	78					5																	156769995		2203	4300	6503	SO:0001583	missense	408263					integral to membrane		g.chr5:156769995G>A	BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"Fibronectin type III domain containing"	33547	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 40"	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.550C>T	5.37:g.156769995G>A	ENSP00000310594:p.Pro184Ser		Somatic	OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1781	CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000522463.1_Intron	p.P184S	NM_001001343.3	NP_001001343.2	WXS	Illumina GAIIx	Phase_I	Q8TBE3	FNDC9_HUMAN			2	737	-			184					A8K0Y6	Missense_Mutation	SNP	ENST00000312349.4	37	c.550C>T	CCDS4337.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084072	0.55861	.	.	ENSG00000172568	ENST00000312349	T	0.61859	0.07	5.08	5.08	0.68730	.	0.335374	0.24422	N	0.038674	T	0.47340	0.1440	N	0.19112	0.55	0.30785	N	0.741546	B	0.30634	0.288	B	0.36244	0.22	T	0.53788	-0.8389	10	0.37606	T	0.19	-6.0236	15.6411	0.77001	0.0:0.0:1.0:0.0	.	184	Q8TBE3	FNDC9_HUMAN	S	184	ENSP00000310594:P184S	ENSP00000310594:P184S	P	-	1	0	FNDC9	156702573	0.957000	0.32711	0.977000	0.42913	0.454000	0.32378	4.434000	0.59935	2.369000	0.80426	0.491000	0.48974	CCA		0.632	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252573.2	NM_001001343		4	101	0	0	0	1	0	4	101					A	156769995	G	A	156769995	3	1	28	1	0	0	0	0	1	0	0	0	2301	1203	42	3	128	3	C5orf40	5	156769995	Missense_Mutation	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08	89180410	156769995	24145265	27	2738										
ODZ2	57451	broad.mit.edu	37	chr5	167379743	167379743	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	gatccacgccccggccccagCgcccaatgacctggccacca	9	21	0	1			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr5:167379743C>A	ENST00000518659.1	+	4	902	c.863C>A	c.(862-864)gCg>gAg	p.A288E	CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000545108.1_Missense_Mutation_p.A288E|TENM2_ENST00000403607.2_Missense_Mutation_p.A121E|TENM2_ENST00000520394.1_Missense_Mutation_p.A97E|TENM2_ENST00000519204.1_Missense_Mutation_p.A167E|TENM2_ENST00000520393.1_3'UTR	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	288	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CCGGCCCCAGCGCCCAATGAC	0.622																																						ENST00000519204.1																			0											c.(499-501)gCg>gAg		teneurin transmembrane protein 2							54	64	60					5																	167379743		2191	4278	6469	SO:0001583	missense	57451							g.chr5:167379743C>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.863C>A	5.37:g.167379743C>A	ENSP00000429430:p.Ala288Glu		Somatic				TENM2_ENST00000520394.1_Missense_Mutation_p.A97E|TENM2_ENST00000403607.2_Missense_Mutation_p.A121E|TENM2_ENST00000518659.1_Missense_Mutation_p.A288E|TENM2_ENST00000545108.1_Missense_Mutation_p.A288E|CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000520393.1_3'UTR	p.A167E			WXS	Illumina GAIIx	Phase_I					3	618	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.500C>A		.	.	.	.	.	.	.	.	.	.	C	13.01	2.108157	0.37242	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.34	4.47	0.54385	Teneurin intracellular, N-terminal (2);	0.199312	0.42821	D	0.000643	T	0.51126	0.1656	L	0.50333	1.59	0.44635	D	0.997616	P;D;P	0.63046	0.929;0.992;0.913	P;P;B	0.56216	0.644;0.794;0.434	T	0.49542	-0.8929	10	0.41790	T	0.15	.	13.9883	0.64350	0.0:0.9267:0.0:0.0733	.	288;97;167	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	E	288;288;167;97;121	ENSP00000429430:A288E;ENSP00000438635:A288E;ENSP00000428964:A167E;ENSP00000427874:A97E;ENSP00000384905:A121E	ENSP00000384905:A121E	A	+	2	0	ODZ2	167312321	0.999000	0.42202	0.144000	0.22314	0.004000	0.04260	3.879000	0.56138	1.258000	0.44101	-0.379000	0.06801	GCG		0.622	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		6	15	1	0	0.00116845	1	0.0012009	6	15					A	167379743	C	A	167379743	3	1	28	1	0	0	0	0	1	0	0	0	10844	768	27	5	877	5	ODZ2	5	167379743	Missense_Mutation	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08	10609748	167379743	13535517	28	2739										
COL11A2	1302	broad.mit.edu	37	chr6	33135298	33135298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	cttccccggggcacctatagCgccaggatctccctgaaaca	9	16	1	1			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr6:33135298C>T	ENST00000374708.4	-	54	4027	c.3769G>A	c.(3769-3771)Gct>Act	p.A1257T	COL11A2_ENST00000374713.1_Missense_Mutation_p.A1296T|COL11A2_ENST00000361917.1_Missense_Mutation_p.A1236T|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000341947.2_Missense_Mutation_p.A1343T|COL11A2_ENST00000395197.1_Missense_Mutation_p.A1283T|COL11A2_ENST00000374714.1_Missense_Mutation_p.A1317T|COL11A2_ENST00000357486.1_Missense_Mutation_p.A1322T|COL11A2_ENST00000374712.1_Missense_Mutation_p.A1262T	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1343	Triple-helical region.			T -> Q (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 7; AAA52034). {ECO:0000305}.	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						GCACCTATAGCGCCAGGATCT	0.652																																					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.(4027-4029)Gct>Act		collagen, type XI, alpha 2							29	28	29					6																	33135298		1508	2708	4216	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.chr6:33135298C>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.3769G>A	6.37:g.33135298C>T	ENSP00000363840:p.Ala1257Thr		Somatic				COL11A2_ENST00000374714.1_Missense_Mutation_p.A1317T|COL11A2_ENST00000357486.1_Missense_Mutation_p.A1322T|COL11A2_ENST00000361917.1_Missense_Mutation_p.A1236T|COL11A2_ENST00000395197.1_Missense_Mutation_p.A1283T|COL11A2_ENST00000374708.4_Missense_Mutation_p.A1257T|COL11A2_ENST00000374712.1_Missense_Mutation_p.A1262T|COL11A2_ENST00000374713.1_Missense_Mutation_p.A1296T|COL11A2_ENST00000477772.1_Intron	p.A1343T	NM_080680.2	NP_542411.2	WXS	Illumina GAIIx	Phase_I	P13942	COBA2_HUMAN			56	4254	-			1343			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.4027G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	7.487	0.649819	0.14516	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.94330	-3.27;-3.4;-3.4;-3.4;-3.4;-3.27;-3.4;-3.4	4.09	3.19	0.36642	.	0.213209	0.38720	N	0.001586	T	0.72382	0.3453	N	0.12663	0.25	0.46901	D	0.999246	P;P;P	0.36768	0.472;0.472;0.569	B;B;B	0.29077	0.098;0.098;0.045	T	0.72197	-0.4363	10	0.18276	T	0.48	.	10.7468	0.46185	0.1913:0.8087:0.0:0.0	.	1236;1257;1343	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	T	1257;1343;1322;1317;1296;1283;1262;1236	ENSP00000363840:A1257T;ENSP00000339915:A1343T;ENSP00000350079:A1322T;ENSP00000363846:A1317T;ENSP00000363845:A1296T;ENSP00000378623:A1283T;ENSP00000363844:A1262T;ENSP00000355123:A1236T	ENSP00000339915:A1343T	A	-	1	0	COL11A2	33243276	0.745000	0.28261	0.998000	0.56505	0.053000	0.15095	0.728000	0.26013	0.895000	0.36342	0.442000	0.29010	GCT		0.652	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			20	25	0	0	0	1	0	20	25					T	33135298	C	T	33135298	3	4	28	1	0	0	0	0	1	0	0	0	3670	768	27	1	1227	1	COL11A2	6	33135298	Missense_Mutation	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08		33135298	137979769	29	2740										
PGM3	5238	broad.mit.edu	37	chr6	83896756	83896756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	gacctcctagaacagtcacaCcatctattacagattgtgaa	6	11	2	3	rs80024877		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr6:83896756C>T	ENST00000283977.4	-	3	311	c.185G>A	c.(184-186)gGt>gAt	p.G62D	PGM3_ENST00000506587.1_Missense_Mutation_p.G171D|PGM3_ENST00000512866.1_Missense_Mutation_p.G143D|PGM3_ENST00000513973.1_Missense_Mutation_p.G143D					phosphoglucomutase 3											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)		AACAGTCACACCATCTATTAC	0.343																																						ENST00000513973.1																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(427-429)gGt>gAt		phosphoglucomutase 3							76	71	73					6																	83896756		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.chr6:83896756C>T	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.185G>A	6.37:g.83896756C>T	ENSP00000283977:p.Gly62Asp		Somatic				PGM3_ENST00000506587.1_Missense_Mutation_p.G171D|PGM3_ENST00000512866.1_Missense_Mutation_p.G143D|PGM3_ENST00000283977.4_Missense_Mutation_p.G62D	p.G143D	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)	4	544	-		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)	143						Missense_Mutation	SNP	ENST00000283977.4	37	c.428G>A		.	.	.	.	.	.	.	.	.	.	C	18.86	3.712693	0.68730	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000283977;ENST00000506587;ENST00000510258;ENST00000507554	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.24	4.97	4.97	0.65823	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	0.87406	0.6169	H	0.97340	3.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92148	0.5726	10	0.87932	D	0	-28.2816	18.2646	0.90049	0.0:1.0:0.0:0.0	.	171;171;143	E9PF86;B4DX94;O95394	.;.;AGM1_HUMAN	D	143;143;62;171;62;143	ENSP00000424874:G143D;ENSP00000421565:G143D;ENSP00000283977:G62D;ENSP00000425809:G171D;ENSP00000427420:G62D;ENSP00000425558:G143D	ENSP00000283977:G62D	G	-	2	0	PGM3	83953475	1.000000	0.71417	0.823000	0.32752	0.194000	0.23727	7.304000	0.78882	2.297000	0.77311	0.655000	0.94253	GGT		0.343	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000366385.2	NM_015599		10	13	0	0	0	1	0	10	13					T	83896756	C	T	83896756	3	4	28	1	0	0	0	0	1	0	0	0	11809	507	18	3	1240	3	PGM3	6	83896756	Missense_Mutation	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08	50761458	83896756	87218311	30	2741										
MLLT4	4301	broad.mit.edu	37	chr6	168344722	168344722	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	cacccttctcaatcagccatCccccatgatgcagagaagta	6	15	2	2			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr6:168344722C>G	ENST00000447894.2	+	25	3320	c.3320C>G	c.(3319-3321)tCc>tGc	p.S1107C	MLLT4_ENST00000400822.3_Missense_Mutation_p.S1106C|MLLT4_ENST00000344191.4_Missense_Mutation_p.S1107C|MLLT4_ENST00000351017.4_Missense_Mutation_p.S1114C|MLLT4_ENST00000392108.3_Missense_Mutation_p.S1107C|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000366806.2_Missense_Mutation_p.S1107C|MLLT4_ENST00000392112.1_Missense_Mutation_p.S1090C			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1107					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)		AATCAGCCATCCCCCATGATG	0.517			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.(3319-3321)tCc>tGc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							100	87	92					6																	168344722		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168344722C>G	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.3320C>G	6.37:g.168344722C>G	ENSP00000404595:p.Ser1107Cys		Somatic				MLLT4_ENST00000344191.4_Missense_Mutation_p.S1107C|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000351017.4_Missense_Mutation_p.S1114C|MLLT4_ENST00000447894.2_Missense_Mutation_p.S1107C|MLLT4_ENST00000400822.3_Missense_Mutation_p.S1106C|MLLT4_ENST00000392112.1_Missense_Mutation_p.S1090C|MLLT4_ENST00000392108.3_Missense_Mutation_p.S1107C	p.S1107C			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)	26	3462	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1107					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.3320C>G		.	.	.	.	.	.	.	.	.	.	C	19.19	3.779609	0.70107	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.06371	3.5;3.4;3.51;3.49;3.31;3.4;3.4	4.92	4.92	0.64577	.	0.146713	0.45867	D	0.000331	T	0.18002	0.0432	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.78314	0.971;0.983;0.991;0.991	T	0.01345	-1.1379	10	0.87932	D	0	-9.3819	18.1291	0.89596	0.0:1.0:0.0:0.0	.	1107;1106;1107;1091	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	C	1107;1114;1107;1107;1090;1107;1106;1107	ENSP00000341118:S1107C;ENSP00000252692:S1114C;ENSP00000375956:S1107C;ENSP00000355771:S1107C;ENSP00000375960:S1090C;ENSP00000383623:S1106C;ENSP00000404595:S1107C	ENSP00000345834:S1107C	S	+	2	0	MLLT4	168087571	1.000000	0.71417	0.316000	0.25252	0.993000	0.82548	5.729000	0.68538	2.254000	0.74563	0.655000	0.94253	TCC		0.517	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		14	52	0	0	0	1	0	14	52					G	168344722	C	G	168344722	3	3	28	1	0	0	0	0	1	0	0	0	9638	855	30	2	3418	2	MLLT4	6	168344722	Missense_Mutation	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08	84447966	168344722	2770345	31	2742										
MCM4	4173	broad.mit.edu	37	chr8	48873764	48873764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	cggcgtggaagggccaccccCgcccagacgcgtgagtcccc	14	18	0	2			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr8:48873764C>T	ENST00000262105.2	+	1	269	c.60C>T	c.(58-60)ccC>ccT	p.P20P	PRKDC_ENST00000338368.3_5'Flank|PRKDC_ENST00000523565.1_5'Flank|PRKDC_ENST00000314191.2_5'Flank|MCM4_ENST00000523944.1_Silent_p.P20P	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	20					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GGGCCACCCCCGCCCAGACGC	0.771																																						ENST00000262105.2																			0				biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(58-60)ccC>ccT		minichromosome maintenance complex component 4							3	4	4					8																	48873764		1623	3503	5126	SO:0001819	synonymous_variant	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.chr8:48873764C>T		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.60C>T	8.37:g.48873764C>T			Somatic				MCM4_ENST00000523944.1_Silent_p.P20P	p.P20P	NM_005914.3	NP_005905.2	WXS	Illumina GAIIx	Phase_I	P33991	MCM4_HUMAN			1	269	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	20					Q8NEH1|Q99658	Silent	SNP	ENST00000262105.2	37	c.60C>T	CCDS6143.1																																																																																				0.771	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		5	0	0	0	0	1	0	5	0					T	48873764	C	T	48873764	2	4	28	1	0	0	0	0	0	0	0	1	9398	639	23	1		1	MCM4	8	48873764	Silent	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08		48873764	97490258	32	2743										
PPAPDC2	403313	broad.mit.edu	37	chr9	4662430	4662432	+	In_Frame_Del	DEL	AGC	AGC	-													0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	cgctgggcgtctccgcttcgAgcagcagcagcagccccggc							TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr9:4662430_4662432delAGC	ENST00000381883.2	+	1	133_135	c.55_57delAGC	c.(55-57)agcdel	p.S23del	SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000381895.5_Intron|SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000223517.5_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	23						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		CTCCGCTTCGAGCAGCAGCAGCA	0.729											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(187;1057 3809 8526)	ENST00000381883.2																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(55-57)del		phosphatidic acid phosphatase type 2 domain containing 2			,	10,2400		2,6,1197					,	-7.1	0			3	30,5308		2,26,2641	no	coding,intron	C9orf68,PPAPDC2	NM_203453.2,NM_001039395.3	,	4,32,3838	A1A1,A1R,RR		0.562,0.4149,0.5163	,	,		40,7708				SO:0001651	inframe_deletion	403313					integral to membrane	hydrolase activity	g.chr9:4662430_4662432delAGC	AK128369	CCDS34981.1	9p24	2010-04-23			ENSG00000205808	ENSG00000205808			23682	protein-coding gene	gene with protein product	"polyisoprenoid diphosphate phosphatase type 1"	611666				16464866	Standard	NM_203453		Approved	FLJ90191, FLJ46512, PDP1	uc003zin.4	Q8IY26	OTTHUMG00000019466	ENST00000381883.2:c.55_57delAGC	9.37:g.4662439_4662441delAGC	ENSP00000371307:p.Ser23del		Somatic	OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620	SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000381895.5_Intron	p.S23del	NM_203453.3	NP_982278.3	WXS	Illumina GAIIx	Phase_I	Q8IY26	PPAC2_HUMAN		GBM - Glioblastoma multiforme(50;0.026)	1	133_135	+	all_hematologic(13;0.137)	Breast(48;0.238)	23					B3KY05|Q5JVJ6|Q8NCK9	In_Frame_Del	DEL	ENST00000381883.2	37	c.55_57delAGC	CCDS34981.1																																																																																				0.729	PPAPDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051567.1	NM_203453		2	4						2	4	---	---	---	---	-	4662432	AGC	-	4662430	7	5	28	1	0	1	0	1	0	0	0	0	12304	304	11	0	57	0	PPAPDC2	9	4662430	In_Frame_Del	DEL	AGC	TCGA-N8-A4PN-01A-11D-A28R-08		4662430	136551001	33	2744										
TRPM6	140803	broad.mit.edu	37	chr9	77407599	77407599	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	ctcatagactttcctggtccAcggaaggtgttggtgcccac	11	12	1	1			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr9:77407599A>C	ENST00000360774.1	-	19	2716	c.2479T>G	c.(2479-2481)Tgg>Ggg	p.W827G	TRPM6_ENST00000361255.3_Missense_Mutation_p.W822G|TRPM6_ENST00000449912.2_Missense_Mutation_p.W822G|TRPM6_ENST00000451710.3_Missense_Mutation_p.W827G|TRPM6_ENST00000376864.4_Missense_Mutation_p.W827G|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	827					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						TTCCTGGTCCACGGAAGGTGT	0.388																																						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.(2479-2481)Tgg>Ggg		transient receptor potential cation channel, subfamily M, member 6							142	122	129					9																	77407599		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.chr9:77407599A>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.2479T>G	9.37:g.77407599A>C	ENSP00000354006:p.Trp827Gly		Somatic				TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.W827G|TRPM6_ENST00000449912.2_Missense_Mutation_p.W822G|TRPM6_ENST00000376864.4_Missense_Mutation_p.W827G|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.W822G	p.W827G			WXS	Illumina GAIIx	Phase_I	Q9BX84	TRPM6_HUMAN			19	2716	-			827					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.2479T>G	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	0.908	-0.719955	0.03182	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	5.88	3.35	0.38373	.	0.421933	0.29321	N	0.012484	T	0.40171	0.1106	N	0.14661	0.345	0.28898	N	0.893468	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.29119	-1.0022	10	0.54805	T	0.06	.	6.5016	0.22172	0.5864:0.2092:0.0:0.2044	.	827;822	Q9BX84;Q9BX84-3	TRPM6_HUMAN;.	G	827;827;822;822;827;490;490	ENSP00000354006:W827G;ENSP00000407341:W827G;ENSP00000396672:W822G;ENSP00000354962:W822G;ENSP00000366060:W827G	ENSP00000309693:W490G	W	-	1	0	TRPM6	76597419	0.000000	0.05858	0.992000	0.48379	0.134000	0.20937	0.551000	0.23361	2.253000	0.74438	0.519000	0.50382	TGG		0.388	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		20	24	0	0	0	1	0	20	24					C	77407599	A	C	77407599	3	2	28	1	0	0	0	0	1	0	0	0	16605	159	6	4	3673	4	TRPM6	9	77407599	Missense_Mutation	SNP	A	TCGA-N8-A4PN-01A-11D-A28R-08	72745169	77407599	63805832	34	2745										
NET1	10276	broad.mit.edu	37	chr10	5471142	5471142	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	ttttcttttagaaaagaaaaCgcagagagaaagatgatgat	9	3	1	7			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr10:5471142C>G	ENST00000355029.4	+	3	347	c.205C>G	c.(205-207)Cgc>Ggc	p.R69G	NET1_ENST00000542715.1_5'UTR	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	69	Necessary for nuclear localization. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R69C(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GAAAAGAAAACGCAGAGAGAA	0.323																																						ENST00000355029.4																			1	Substitution - Missense(1)	p.R69C(1)	endometrium(1)	breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(205-207)Cgc>Ggc		neuroepithelial cell transforming 1							90	87	88					10																	5471142		1814	4074	5888	SO:0001583	missense	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5471142C>G	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.205C>G	10.37:g.5471142C>G	ENSP00000347134:p.Arg69Gly		Somatic				NET1_ENST00000542715.1_5'UTR	p.R69G	NM_001047160.1	NP_001040625.1	WXS	Illumina GAIIx	Phase_I	Q7Z628	ARHG8_HUMAN			3	347	+			69			Necessary for nuclear localization (By similarity).		Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	c.205C>G	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183441	0.57800	.	.	ENSG00000173848	ENST00000355029	T	0.14391	2.51	5.46	5.46	0.80206	.	0.000000	0.32901	N	0.005505	T	0.19127	0.0459	M	0.74881	2.28	0.80722	D	1	P	0.46621	0.881	B	0.38225	0.268	T	0.02781	-1.1111	10	0.87932	D	0	-13.1557	14.8097	0.69985	0.0:1.0:0.0:0.0	.	69	Q7Z628	ARHG8_HUMAN	G	69	ENSP00000347134:R69G	ENSP00000347134:R69G	R	+	1	0	NET1	5461142	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.319000	0.43788	2.577000	0.86979	0.650000	0.86243	CGC		0.323	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		6	113	0	0	0	1	0	6	113					G	5471142	C	G	5471142	3	3	28	1	0	0	0	0	1	0	0	0	10347	536	19	5	215	5	NET1	10	5471142	Missense_Mutation	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08		5471142	130063605	35	2746										
CUBN	8029	broad.mit.edu	37	chr10	17130272	17130272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	caatccagacacaatctcttCctgggggatagtttccagga	9	11	1	1	rs386833770		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr10:17130272C>T	ENST00000377833.4	-	15	1903	c.1838G>A	c.(1837-1839)gGa>gAa	p.G613E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	613	CUB 2. {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)	ACAATCTCTTCCTGGGGGATA	0.443																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(1837-1839)gGa>gAa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						93	85	88					10																	17130272		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.chr10:17130272C>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.1838G>A	10.37:g.17130272C>T	ENSP00000367064:p.Gly613Glu		Somatic					p.G613E	NM_001081.3	NP_001072.2	WXS	Illumina GAIIx	Phase_I	O60494	CUBN_HUMAN			15	1903	-			613			CUB 2.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1838G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657693	0.67586	.	.	ENSG00000107611	ENST00000377833	T	0.29655	1.56	5.14	5.14	0.70334	CUB (5);	0.179663	0.27841	N	0.017634	T	0.31136	0.0787	L	0.45422	1.42	0.80722	D	1	P	0.48998	0.918	P	0.49953	0.627	T	0.02093	-1.1215	10	0.34782	T	0.22	.	6.5595	0.22479	0.0:0.7874:0.0:0.2126	.	613	O60494	CUBN_HUMAN	E	613	ENSP00000367064:G613E	ENSP00000367064:G613E	G	-	2	0	CUBN	17170278	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.982000	0.49337	2.676000	0.91093	0.655000	0.94253	GGA		0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		6	56	0	0	0	1	0	6	56					T	17130272	C	T	17130272	3	4	28	1	0	0	0	0	1	0	0	0	4053	855	30	3	9245	3	CUBN	10	17130272	Missense_Mutation	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08	11659130	17130272	118404475	36	2747										
CHST3	9469	broad.mit.edu	37	chr10	73767358	73767358	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	ctcggccctggtgtaccgcgAcgtgctcaagcagctcttcc	11	16	2	0			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr10:73767358A>T	ENST00000373115.4	+	3	1006	c.569A>T	c.(568-570)gAc>gTc	p.D190V		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	190					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						GTGTACCGCGACGTGCTCAAG	0.652																																						ENST00000373115.4																			0				endometrium(1)|lung(5)	6						c.(568-570)gAc>gTc		carbohydrate (chondroitin 6) sulfotransferase 3							21	22	22					10																	73767358		2202	4299	6501	SO:0001583	missense	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73767358A>T	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"Sulfotransferases, membrane-bound"	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.569A>T	10.37:g.73767358A>T	ENSP00000362207:p.Asp190Val		Somatic					p.D190V	NM_004273.4	NP_004264.2	WXS	Illumina GAIIx	Phase_I	Q7LGC8	CHST3_HUMAN			3	1006	+			190					O75099|Q52M30	Missense_Mutation	SNP	ENST00000373115.4	37	c.569A>T	CCDS7312.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473640	0.84640	.	.	ENSG00000122863	ENST00000373115	D	0.83755	-1.76	5.68	5.68	0.88126	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.91754	0.7392	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92994	0.6417	10	0.87932	D	0	-48.4182	15.1166	0.72407	1.0:0.0:0.0:0.0	.	190	Q7LGC8	CHST3_HUMAN	V	190	ENSP00000362207:D190V	ENSP00000362207:D190V	D	+	2	0	CHST3	73437364	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.461000	0.80834	2.179000	0.69175	0.459000	0.35465	GAC		0.652	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		5	26	0	0	0	1	0	5	26					T	73767358	A	T	73767358	3	4	28	1	0	0	0	0	1	0	0	0	3407	275	10	4	575	4	CHST3	10	73767358	Missense_Mutation	SNP	A	TCGA-N8-A4PN-01A-11D-A28R-08	56637086	73767358	61767389	37	2748										
TCF7L2	6934	broad.mit.edu	37	chr10	114919686	114919686	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	tgaactcattcagacctgagCgctcctaagaaatgccgagc	9	12	2	4			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr10:114919686C>T	ENST00000355995.4	+	14	1884	c.1377C>T	c.(1375-1377)agC>agT	p.S459S	TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000545257.1_Intron|TCF7L2_ENST00000538897.1_Intron|TCF7L2_ENST00000369397.4_Silent_p.S436S|TCF7L2_ENST00000369386.1_Silent_p.S85S|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000542695.1_Silent_p.S175S|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000352065.5_Silent_p.S436S|TCF7L2_ENST00000534894.1_Silent_p.S459S|TCF7L2_ENST00000536810.1_Silent_p.S442S			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	459	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)		CAGACCTGAGCGCTCCTAAGA	0.542			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.(1375-1377)agC>agT		transcription factor 7-like 2 (T-cell specific, HMG-box)							68	63	65					10																	114919686		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.chr10:114919686C>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.1377C>T	10.37:g.114919686C>T			Somatic				TCF7L2_ENST00000534894.1_Silent_p.S459S|TCF7L2_ENST00000536810.1_Silent_p.S442S|TCF7L2_ENST00000369397.4_Silent_p.S436S|TCF7L2_ENST00000538897.1_Intron|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000369386.1_Silent_p.S85S|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000545257.1_Intron|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000352065.5_Silent_p.S436S|TCF7L2_ENST00000542695.1_Silent_p.S175S|TCF7L2_ENST00000543371.1_Intron	p.S459S			WXS	Illumina GAIIx	Phase_I	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	14	1884	+		Breast(234;0.058)|Colorectal(252;0.0615)	459			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	Silent	SNP	ENST00000355995.4	37	c.1377C>T																																																																																					0.542	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		23	21	0	0	0	1	0	23	21					T	114919686	C	T	114919686	2	4	28	1	0	0	0	0	0	0	0	1	15713	767	27	1		1	TCF7L2	10	114919686	Silent	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08	41152328	114919686	20615061	38	2749										
OR5AS1	219447	broad.mit.edu	37	chr11	55798810	55798810	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	atgctctcaaaaagctattaGaaagaattggatattcaaat	6	5	2	2			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr11:55798810G>T	ENST00000313555.1	+	1	916	c.916G>T	c.(916-918)Gaa>Taa	p.E306*		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	306						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)					AAAGCTATTAGAAAGAATTGG	0.308																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(916-918)Gaa>Taa		olfactory receptor, family 5, subfamily AS, member 1							45	53	50					11																	55798810		2199	4294	6493	SO:0001587	stop_gained	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798810G>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.916G>T	11.37:g.55798810G>T	ENSP00000324111:p.Glu306*		Somatic					p.E306*	NM_001001921.1	NP_001001921.1	WXS	Illumina GAIIx	Phase_I	Q8N127	O5AS1_HUMAN			1	916	+	Esophageal squamous(21;0.00693)		306					Q6IFB8	Nonsense_Mutation	SNP	ENST00000313555.1	37	c.916G>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244008	0.39697	.	.	ENSG00000181785	ENST00000313555	.	.	.	4.76	3.85	0.44370	.	0.807846	0.10030	U	0.724919	.	.	.	.	.	.	0.33580	D	0.599775	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	7.3733	0.26815	0.2013:0.0:0.7987:0.0	.	.	.	.	X	306	.	ENSP00000324111:E306X	E	+	1	0	OR5AS1	55555386	0.064000	0.20934	0.022000	0.16811	0.245000	0.25701	0.647000	0.24812	0.994000	0.38892	0.579000	0.79373	GAA		0.308	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		12	45	1	0	3.07112e-06	1	3.20088e-06	12	45					T	55798810	G	T	55798810	4	4	28	1	0	0	0	0	0	1	0	0	11155	943	33	2	918	2	OR5AS1	11	55798810	Nonsense_Mutation	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08		55798810	79207706	39	2750										
SHANK2	22941	broad.mit.edu	37	chr11	70505948	70505948	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	cctacctcaatcaagaagtcCccggtccttagtccggcttg	8	15	2	1			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr11:70505948C>G	ENST00000423696.2	-	7	945	c.909G>C	c.(907-909)ggG>ggC	p.G303G	SHANK2_ENST00000409530.1_Silent_p.G93G|SHANK2_ENST00000449116.2_Silent_p.G94G|SHANK2_ENST00000338508.4_Silent_p.G683G|SHANK2_ENST00000449833.2_Silent_p.G94G|SHANK2_ENST00000409161.1_Silent_p.G93G|SHANK2_ENST00000357171.3_Silent_p.G94G			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	303	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)			TCAAGAAGTCCCCGGTCCTTA	0.587																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(2047-2049)ggG>ggC		SH3 and multiple ankyrin repeat domains 2							126	104	112					11																	70505948		2200	4294	6494	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70505948C>G	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.909G>C	11.37:g.70505948C>G			Somatic				SHANK2_ENST00000449833.2_Silent_p.G94G|SHANK2_ENST00000449116.2_Silent_p.G94G|SHANK2_ENST00000423696.2_Silent_p.G303G|SHANK2_ENST00000409530.1_Silent_p.G93G|SHANK2_ENST00000409161.1_Silent_p.G93G|SHANK2_ENST00000357171.3_Silent_p.G94G	p.G683G			WXS	Illumina GAIIx	Phase_I	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		23	2048	-			303					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.2049G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.280|8.280	0.815311|0.815311	0.16607|0.16607	.|.	.|.	ENSG00000162105|ENSG00000162105	ENST00000426687|ENST00000412252	T|T	0.59083|0.59364	0.29|0.27	5.0|5.0	-1.22|-1.22	0.09494|0.09494	.|.	0.169530|0.169530	0.51477|0.51477	D|D	0.000090|0.000090	T|T	0.53948|0.53948	0.1828|0.1828	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52548|0.52548	-0.8561|-0.8561	7|7	0.62326|0.87932	D|D	0.03|0	.|.	2.6085|2.6085	0.04884|0.04884	0.1222:0.4253:0.121:0.3315|0.1222:0.4253:0.121:0.3315	.|.	.|.	.|.	.|.	A|R	92|93	ENSP00000391570:G92A|ENSP00000414876:G93R	ENSP00000391570:G92A|ENSP00000414876:G93R	G|G	-|-	2|1	0|0	SHANK2|SHANK2	70183596|70183596	0.609000|0.609000	0.26975|0.26975	0.963000|0.963000	0.40424|0.40424	0.822000|0.822000	0.46500|0.46500	-0.263000|-0.263000	0.08670|0.08670	0.146000|0.146000	0.19002|0.19002	-0.140000|-0.140000	0.14226|0.14226	GGG|GGA		0.587	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		16	83	0	0	0	1	0	16	83					G	70505948	C	G	70505948	2	3	28	1	0	0	0	0	0	0	0	1	14280	610	22	5		5	SHANK2	11	70505948	Silent	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08	14707138	70505948	64500568	40	2751										
RAB38	23682	broad.mit.edu	37	chr11	87882875	87882875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	ttcaaaccatcctacgaaacCgtgctccttgcagaactggt	7	13	1	1	rs143951992	byFrequency	TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr11:87882875C>T	ENST00000243662.6	-	2	533	c.451G>A	c.(451-453)Ggt>Agt	p.G151S		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	151					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)				CCTACGAAACCGTGCTCCTTG	0.413													C|||	2	0.000399361	0.0015	0	5008	,	,		21749	0		0	False		,,,				2504	0					ENST00000243662.6																			0				large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(451-453)Ggt>Agt		RAB38, member RAS oncogene family		C	SER/GLY	4,4398	8.1+/-20.4	0,4,2197	152	125	134		451	5.5	1	11	dbSNP_134	134	0,8598		0,0,4299	yes	missense	RAB38	NM_022337.2	56	0,4,6496	TT,TC,CC		0.0,0.0909,0.0308	possibly-damaging	151/212	87882875	4,12996	2201	4299	6500	SO:0001583	missense	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87882875C>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.451G>A	11.37:g.87882875C>T	ENSP00000243662:p.Gly151Ser		Somatic					p.G151S	NM_022337.2	NP_071732.1	WXS	Illumina GAIIx	Phase_I	P57729	RAB38_HUMAN			2	533	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	151					Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.451G>A	CCDS8281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.7|29.7	5.031588|5.031588	0.93575|0.93575	9.09E-4|9.09E-4	0.0|0.0	ENSG00000123892|ENSG00000123892	ENST00000243662|ENST00000526372	D|.	0.81821|.	-1.54|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73877|0.73877	0.3643|0.3643	M|M	0.62088|0.62088	1.915|1.915	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.63793|.	0.918|.	T|T	0.71500|0.71500	-0.4574|-0.4574	9|5	.|.	.|.	.|.	-4.6492|-4.6492	19.3324|19.3324	0.94297|0.94297	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	151|.	P57729|.	RAB38_HUMAN|.	S|Q	151|149	ENSP00000243662:G151S|.	.|.	G|R	-|-	1|2	0|0	RAB38|RAB38	87522523|87522523	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.763000|0.763000	0.43281|0.43281	7.395000|7.395000	0.79876|0.79876	2.571000|2.571000	0.86741|0.86741	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.413	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			22	109	0	0	0	1	0	22	109					T	87882875	C	T	87882875	3	4	28	1	0	0	0	0	1	0	0	0	12943	652	23	1	192	1	RAB38	11	87882875	Missense_Mutation	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08	17376927	87882875	47123641	41	2752										
ADAMTS8	11095	broad.mit.edu	37	chr11	130289058	130289058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	cagtgtaagccccccattgtCggacacctctgggccccatt	9	16	1	0			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr11:130289058C>T	ENST00000257359.6	-	2	1556	c.850G>A	c.(850-852)Gac>Aac	p.D284N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	284	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCCCCATTGTCGGACACCTCT	0.552																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(850-852)Gac>Aac		ADAM metallopeptidase with thrombospondin type 1 motif, 8							152	160	157					11																	130289058		1980	4171	6151	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130289058C>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.850G>A	11.37:g.130289058C>T	ENSP00000257359:p.Asp284Asn		Somatic					p.D284N	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)	2	1556	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	284			Peptidase M12B.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.850G>A	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876548	0.33162	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	D	0.86627	-2.15	5.62	4.68	0.58851	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.173127	0.64402	D	0.000007	T	0.79805	0.4509	L	0.31420	0.93	0.38909	D	0.957488	P	0.34757	0.467	B	0.30855	0.121	T	0.77760	-0.2467	10	0.25751	T	0.34	.	16.3103	0.82865	0.0:0.8675:0.1325:0.0	.	284	Q9UP79	ATS8_HUMAN	N	284;313	ENSP00000257359:D284N	ENSP00000257359:D284N	D	-	1	0	ADAMTS8	129794268	0.947000	0.32204	0.793000	0.32043	0.544000	0.35116	1.907000	0.39897	1.308000	0.44962	0.655000	0.94253	GAC		0.552	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		63	336	0	0	0	1	0	63	336					T	130289058	C	T	130289058	3	4	28	1	0	0	0	0	1	0	0	0	272	884	31	1	1851	1	ADAMTS8	11	130289058	Missense_Mutation	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08	42406183	130289058	4717458	42	2753										
LRRK2	120892	broad.mit.edu	37	chr12	40760879	40760879	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	aaggtacacaaaagcagaaaGgtaacatttagaaggatact	9	5	0	2			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr12:40760879G>A	ENST00000298910.7	+	50	7520	c.7462G>A	c.(7462-7464)Gag>Aag	p.E2488K		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2488					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)				AAAGCAGAAAGGTAACATTTA	0.318																																						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.e50+1		leucine-rich repeat kinase 2							73	75	74					12																	40760879		2203	4298	6501	SO:0001630	splice_region_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40760879G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7462+1G>A	12.37:g.40760879G>A			Somatic					p.E2488_splice	NM_198578.3	NP_940980.3	WXS	Illumina GAIIx	Phase_I	Q5S007	LRRK2_HUMAN			50	7520	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2488					A6NJU2|Q6ZS50|Q8NCX9	Splice_Site	SNP	ENST00000298910.7	37	c.7462_splice	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557798	0.27827	.	.	ENSG00000188906	ENST00000298910	T	0.72835	-0.69	5.58	5.58	0.84498	WD40 repeat-like-containing domain (1);	0.113231	0.64402	D	0.000010	T	0.66107	0.2756	L	0.60455	1.87	0.36541	D	0.871319	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.66991	-0.5783	10	0.42905	T	0.14	.	12.1013	0.53785	0.0:0.0:0.8286:0.1714	.	2488;2488	Q17RV3;Q5S007	.;LRRK2_HUMAN	K	2488	ENSP00000298910:E2488K	ENSP00000298910:E2488K	E	+	1	0	LRRK2	39047146	1.000000	0.71417	0.994000	0.49952	0.040000	0.13550	5.380000	0.66202	2.620000	0.88729	0.491000	0.48974	GAG		0.318	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	Missense_Mutation	18	32	0	0	0	1	0	18	32					A	40760879	G	A	40760879	5	1	28	1	0	0	0	0	0	0	1	0	9042	1014	35	3	7660	3	LRRK2	12	40760879	Splice_Site	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08		40760879	93091016	43	2754										
PUS7L	83448	broad.mit.edu	37	chr12	44124455	44124455	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	atgtcatggtaccactgcccTactttgttcttcgggtactg	9	11	2	0			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr12:44124455T>C	ENST00000416848.2	-	9	2318	c.1830A>G	c.(1828-1830)gtA>gtG	p.V610V	PUS7L_ENST00000551923.1_Silent_p.V610V|PUS7L_ENST00000431332.3_Silent_p.V297V|PUS7L_ENST00000344862.5_Silent_p.V610V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	610	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				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)		ACCACTGCCCTACTTTGTTCT	0.383																																						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.(1828-1830)gtA>gtG		pseudouridylate synthase 7 homolog (S. cerevisiae)-like							115	108	110					12																	44124455		2203	4300	6503	SO:0001819	synonymous_variant	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44124455T>C	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.1830A>G	12.37:g.44124455T>C			Somatic				PUS7L_ENST00000551923.1_Silent_p.V610V|PUS7L_ENST00000344862.5_Silent_p.V610V|PUS7L_ENST00000431332.3_Silent_p.V297V	p.V610V	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)	9	2318	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	610			TRUD.		B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Silent	SNP	ENST00000416848.2	37	c.1830A>G	CCDS8743.1																																																																																				0.383	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		30	33	0	0	0	1	0	30	33					C	44124455	T	C	44124455	2	2	28	1	0	0	0	0	0	0	0	1	12849	1509	53	4		4	PUS7L	12	44124455	Silent	SNP	T	TCGA-N8-A4PN-01A-11D-A28R-08	3363576	44124455	89727440	44	2755										
APAF1	317	broad.mit.edu	37	chr12	99106175	99106175	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	gttgcttaagtccacatcttCagtacattgcatttggagat	8	8	2	1			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr12:99106175C>T	ENST00000551964.1	+	21	3656	c.2920C>T	c.(2920-2922)Cag>Tag	p.Q974*	APAF1_ENST00000547045.1_Nonsense_Mutation_p.Q931*|APAF1_ENST00000359972.2_Nonsense_Mutation_p.Q920*|APAF1_ENST00000550527.1_Nonsense_Mutation_p.Q963*|APAF1_ENST00000339433.3_Nonsense_Mutation_p.Q931*|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000549007.1_Nonsense_Mutation_p.Q931*|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000357310.1_Nonsense_Mutation_p.Q931*	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	974					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCCACATCTTCAGTACATTGC	0.348																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(2791-2793)Cag>Tag		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						118	106	110					12																	99106175		2203	4300	6503	SO:0001587	stop_gained	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.chr12:99106175C>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.2920C>T	12.37:g.99106175C>T	ENSP00000448165:p.Gln974*		Somatic				APAF1_ENST00000547045.1_Nonsense_Mutation_p.Q931*|APAF1_ENST00000359972.2_Nonsense_Mutation_p.Q920*|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Nonsense_Mutation_p.Q963*|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Nonsense_Mutation_p.Q931*|APAF1_ENST00000551964.1_Nonsense_Mutation_p.Q974*|APAF1_ENST00000549007.1_Nonsense_Mutation_p.Q931*	p.Q931*	NM_181868.1	NP_863658.1	WXS	Illumina GAIIx	Phase_I	O14727	APAF_HUMAN			20	3368	+			974					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Nonsense_Mutation	SNP	ENST00000551964.1	37	c.2791C>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	C	41	8.753346	0.98941	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	.	.	.	5.7	3.73	0.42828	.	0.543609	0.21909	N	0.067327	.	.	.	.	.	.	0.37599	D	0.920494	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2401	8.0586	0.30619	0.2685:0.5913:0.1402:0.0	.	.	.	.	X	974;920;931;931;963;931;931	.	ENSP00000341830:Q931X	Q	+	1	0	APAF1	97630306	0.997000	0.39634	0.998000	0.56505	0.236000	0.25371	0.356000	0.20181	1.365000	0.46057	0.650000	0.86243	CAG		0.348	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		16	14	0	0	0	1	0	16	14					T	99106175	C	T	99106175	4	4	28	1	0	0	0	0	0	1	0	0	755	827	29	3	2998	3	APAF1	12	99106175	Nonsense_Mutation	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08	54981720	99106175	34745720	45	2756										
SLC10A2	6555	broad.mit.edu	37	chr13	103698525	103698525	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	cctccatttgccttataaaaCgatgactctggctccgttcc	6	14	1	1	rs201571450	byFrequency	TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr13:103698525C>T	ENST00000245312.3	-	6	1601	c.1005G>A	c.(1003-1005)tcG>tcA	p.S335S		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	335					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)	CCTTATAAAACGATGACTCTG	0.368													C|||	2	0.000399361	0	0	5008	,	,		16631	0.002		0	False		,,,				2504	0					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.(1003-1005)tcG>tcA		solute carrier family 10 (sodium/bile acid cotransporter), member 2							153	128	137					13																	103698525		2203	4300	6503	SO:0001819	synonymous_variant	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103698525C>T	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"Solute carriers"	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.1005G>A	13.37:g.103698525C>T			Somatic					p.S335S	NM_000452.2	NP_000443.1	WXS	Illumina GAIIx	Phase_I	Q12908	NTCP2_HUMAN			6	1601	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		335					A1L4F4|Q13839	Silent	SNP	ENST00000245312.3	37	c.1005G>A	CCDS9506.1																																																																																				0.368	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			24	30	0	0	0	1	0	24	30					T	103698525	C	T	103698525	2	4	28	1	0	0	0	0	0	0	0	1	14389	523	19	1		1	SLC10A2	13	103698525	Silent	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08		103698525	11471353	46	2757										
STRC	161497	broad.mit.edu	37	chr15	43896265	43896265	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	tcttggcagcaagctgtggcTccctacacagctgtccaact	9	14	1	0			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr15:43896265T>C	ENST00000450892.2	-	22	4381	c.4304A>G	c.(4303-4305)gAg>gGg	p.E1435G	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Missense_Mutation_p.E662G	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1435					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)		AAGCTGTGGCTCCCTACACAG	0.557																																						ENST00000450892.2																			0				skin(4)	4						c.(4303-4305)gAg>gGg		stereocilin							42	41	42					15																	43896265		2200	4298	6498	SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43896265T>C	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.4304A>G	15.37:g.43896265T>C	ENSP00000401513:p.Glu1435Gly		Somatic				STRC_ENST00000541030.1_Missense_Mutation_p.E662G	p.E1435G	NM_153700.2	NP_714544.1	WXS	Illumina GAIIx	Phase_I	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	22	4381	-		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)	1435						Missense_Mutation	SNP	ENST00000450892.2	37	c.4304A>G	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.598909	0.00857	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.77229	-1.07;-1.08	5.6	2.04	0.26737	.	0.895753	0.09511	N	0.792309	T	0.54224	0.1845	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.36261	-0.9755	9	0.07990	T	0.79	0.3255	4.6195	0.12442	0.0:0.5088:0.1533:0.3379	.	662;1435	F5GXA4;Q7RTU9	.;STRC_HUMAN	G	1435;1435;662	ENSP00000401513:E1435G;ENSP00000440413:E662G	ENSP00000299992:E1435G	E	-	2	0	STRC	41683557	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	0.803000	0.27083	-0.042000	0.13535	-1.071000	0.02255	GAG		0.557	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		6	20	0	0	0	1	0	6	20					C	43896265	T	C	43896265	3	2	28	1	0	0	0	0	1	0	0	0	15343	1551	54	4	1055	4	STRC	15	43896265	Missense_Mutation	SNP	T	TCGA-N8-A4PN-01A-11D-A28R-08		43896265	58635127	47	2758										
CYP1A1	1543	broad.mit.edu	37	chr15	75014760	75014760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	tgggtttccagagccaaccaCctccccgaaattattattca	6	13	1	1			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr15:75014760C>T	ENST00000379727.3	-	2	877	c.679G>A	c.(679-681)Gtg>Atg	p.V227M	CYP1A1_ENST00000564596.1_De_novo_Start_InFrame|CYP1A1_ENST00000395048.2_Missense_Mutation_p.V227M|CYP1A1_ENST00000395049.4_Missense_Mutation_p.V227M|CYP1A1_ENST00000567032.1_Missense_Mutation_p.V227M			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	227					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	GAGCCAACCACCTCCCCGAAA	0.493									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(679-681)Gtg>Atg		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)						92	95	94					15																	75014760		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.chr15:75014760C>T	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"Cytochrome P450s"	2595	protein-coding gene	gene with protein product		108330	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.679G>A	15.37:g.75014760C>T	ENSP00000369050:p.Val227Met		Somatic				CYP1A1_ENST00000564596.1_De_novo_Start_InFrame|CYP1A1_ENST00000395049.4_Missense_Mutation_p.V227M|CYP1A1_ENST00000395048.2_Missense_Mutation_p.V227M|CYP1A1_ENST00000567032.1_Missense_Mutation_p.V227M	p.V227M			WXS	Illumina GAIIx	Phase_I	P04798	CP1A1_HUMAN			2	877	-			227					A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	ENST00000379727.3	37	c.679G>A	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	C	6.598	0.478656	0.12521	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049	T;T;T	0.69175	-0.38;-0.38;-0.38	5.0	-1.99	0.07457	.	0.486760	0.23045	N	0.052580	T	0.59101	0.2169	M	0.74647	2.275	0.09310	N	1	B;B	0.29341	0.146;0.242	B;B	0.32762	0.152;0.152	T	0.54200	-0.8329	10	0.52906	T	0.07	.	4.5538	0.12126	0.2379:0.4907:0.0:0.2713	.	227;227	E7EMT5;P04798	.;CP1A1_HUMAN	M	227	ENSP00000369050:V227M;ENSP00000378488:V227M;ENSP00000378489:V227M	ENSP00000369050:V227M	V	-	1	0	CYP1A1	72801813	0.002000	0.14202	0.039000	0.18376	0.172000	0.22775	0.844000	0.27654	-0.334000	0.08463	-0.300000	0.09419	GTG		0.493	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		20	119	0	0	0	1	0	20	119					T	75014760	C	T	75014760	3	4	28	1	0	0	0	0	1	0	0	0	4151	507	18	3	883	3	CYP1A1	15	75014760	Missense_Mutation	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08	31118495	75014760	27516632	48	2759										
EEF2K	29904	broad.mit.edu	37	chr16	22278135	22278135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	tgggcgagctggaggccatcGtgggcctgggactcatgtac	17	10	1	0			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr16:22278135G>A	ENST00000263026.5	+	15	2176	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	568					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GGAGGCCATCGTGGGCCTGGG	0.652																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(1702-1704)Gtg>Atg		eukaryotic elongation factor-2 kinase							105	82	90					16																	22278135		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22278135G>A	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1702G>A	16.37:g.22278135G>A	ENSP00000263026:p.Val568Met		Somatic					p.V568M	NM_013302.3	NP_037434.1	WXS	Illumina GAIIx	Phase_I	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	15	2176	+			568					Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.1702G>A	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131829	0.77662	.	.	ENSG00000103319	ENST00000263026	T	0.55588	0.51	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);	0.053927	0.85682	D	0.000000	T	0.51041	0.1651	L	0.45581	1.43	0.58432	D	0.999999	P	0.46578	0.88	P	0.44561	0.453	T	0.54695	-0.8255	10	0.72032	D	0.01	-18.8095	13.4767	0.61312	0.0712:0.0:0.9288:0.0	.	568	O00418	EF2K_HUMAN	M	568	ENSP00000263026:V568M	ENSP00000263026:V568M	V	+	1	0	EEF2K	22185636	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.690000	0.84178	2.806000	0.96561	0.655000	0.94253	GTG		0.652	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		18	64	0	0	0	1	0	18	64					A	22278135	G	A	22278135	3	1	28	1	0	0	0	0	1	0	0	0	4932	1145	40	1	1756	1	EEF2K	16	22278135	Missense_Mutation	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08		22278135	68076618	49	2760										
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	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	ttccttccactcggataagaTgctgaggaggggccagacct	12	11	0	3			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_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_ENST00000269305.4_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_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		41	7	0	0	0	1	0	41	7					C	7578271	T	C	7578271	3	2	28	1	0	0	0	0	1	0	0	0	16396	1464	51	4	716	4	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-N8-A4PN-01A-11D-A28R-08		7578271	73616939	50	2761										
CLUL1	27098	broad.mit.edu	37	chr18	641365	641365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	ctctgcacacagaattagacGaggcgatcaggttggtcaat	11	9	3	2	rs527661052		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr18:641365G>A	ENST00000400606.2	+	7	1178	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	CLUL1_ENST00000338387.7_Missense_Mutation_p.E345K|CLUL1_ENST00000540035.1_Missense_Mutation_p.E397K|C18orf56_ENST00000585033.1_3'UTR|CLUL1_ENST00000579494.1_Missense_Mutation_p.E345K|CLUL1_ENST00000581619.1_Missense_Mutation_p.E370K	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	345					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						AGAATTAGACGAGGCGATCAG	0.488													G|||	1	0.000199681	0	0	5008	,	,		19726	0		0	False		,,,				2504	0.001					ENST00000581619.1																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						c.(1108-1110)Gag>Aag		clusterin-like 1 (retinal)							132	120	124					18																	641365		1981	4179	6160	SO:0001583	missense	27098				cell death	extracellular region		g.chr18:641365G>A	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.1033G>A	18.37:g.641365G>A	ENSP00000383449:p.Glu345Lys		Somatic				CLUL1_ENST00000400606.2_Missense_Mutation_p.E345K|CLUL1_ENST00000540035.1_Missense_Mutation_p.E397K|C18orf56_ENST00000585033.1_3'UTR|CLUL1_ENST00000579494.1_Missense_Mutation_p.E345K|CLUL1_ENST00000338387.7_Missense_Mutation_p.E345K	p.E370K			WXS	Illumina GAIIx	Phase_I	Q15846	CLUL1_HUMAN			7	1955	+			345					A0FDN7	Missense_Mutation	SNP	ENST00000400606.2	37	c.1108G>A	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041143	0.55003	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.25579	1.79;1.79;1.79	5.59	4.72	0.59763	Clusterin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	M	0.68952	2.095	0.80722	D	1	P;P	0.51351	0.944;0.944	B;B	0.43274	0.243;0.414	T	0.09100	-1.0690	10	0.44086	T	0.13	-17.3714	12.7351	0.57218	0.0762:0.0:0.9238:0.0	.	397;345	F5GWQ8;Q15846	.;CLUL1_HUMAN	K	345;397;345	ENSP00000383449:E345K;ENSP00000441726:E397K;ENSP00000341128:E345K	ENSP00000341128:E345K	E	+	1	0	CLUL1	631365	1.000000	0.71417	0.837000	0.33122	0.011000	0.07611	3.674000	0.54598	1.367000	0.46095	0.563000	0.77884	GAG		0.488	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			28	30	0	0	0	1	0	28	30					A	641365	G	A	641365	3	1	28	1	0	0	0	0	1	0	0	0	3572	1059	37	1	1055	1	CLUL1	18	641365	Missense_Mutation	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08		641365	77435883	51	2762										
TCEB3C	162699	broad.mit.edu	37	chr18	44555262	44555262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	cgagtacaccggcatcttagCgttcactctgcgtccaggga	11	13	3	0	rs541677478		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr18:44555262C>T	ENST00000330682.2	-	1	1187	c.952G>A	c.(952-954)Gct>Act	p.A318T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	318	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGCATCTTAGCGTTCACTCTG	0.652																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(952-954)Gct>Act		transcription elongation factor B polypeptide 3C (elongin A3)							193	203	199					18																	44555262		1901	3717	5618	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555262C>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"elongin A3"					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.952G>A	18.37:g.44555262C>T	ENSP00000328232:p.Ala318Thr		Somatic				KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	p.A318T	NM_145653.3	NP_663628.2	WXS	Illumina GAIIx	Phase_I	Q8NG57	ELOA3_HUMAN			1	1187	-			318			Activation domain (By similarity).			Missense_Mutation	SNP	ENST00000330682.2	37	c.952G>A	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	c	7.348	0.622273	0.14193	.	.	ENSG00000183791	ENST00000330682	T	0.11712	2.75	1.1	-2.21	0.06973	.	0.437986	0.19287	N	0.118005	T	0.04724	0.0128	L	0.28274	0.84	0.09310	N	1	B	0.29232	0.238	B	0.12156	0.007	T	0.25813	-1.0121	10	0.44086	T	0.13	-10.3348	1.8769	0.03220	0.3863:0.332:0.0:0.2817	.	318	Q8NG57	ELOA3_HUMAN	T	318	ENSP00000328232:A318T	ENSP00000328232:A318T	A	-	1	0	TCEB3C	42809260	0.993000	0.37304	0.001000	0.08648	0.003000	0.03518	1.618000	0.36954	-0.811000	0.04369	-0.515000	0.04445	GCT		0.652	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		35	328	0	0	0	1	0	35	328					T	44555262	C	T	44555262	3	4	28	1	0	0	0	0	1	0	0	0	15698	768	27	1	2335	1	TCEB3C	18	44555262	Missense_Mutation	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08	43913897	44555262	33521986	52	2763										
PHLPP1	23239	broad.mit.edu	37	chr18	60609112	60609112	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	acacccccatttgaagatccTtcacatggcctataaccgac	5	15	1	2			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr18:60609112T>A	ENST00000262719.5	+	11	3356	c.3122T>A	c.(3121-3123)cTt>cAt	p.L1041H	PHLPP1_ENST00000400316.4_Missense_Mutation_p.L529H			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1041					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|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)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TTGAAGATCCTTCACATGGCC	0.408																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(1585-1587)cTt>cAt		PH domain and leucine rich repeat protein phosphatase 1							68	65	66					18																	60609112		1876	4111	5987	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60609112T>A	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3122T>A	18.37:g.60609112T>A	ENSP00000262719:p.Leu1041His		Somatic				PHLPP1_ENST00000262719.5_Missense_Mutation_p.L1041H	p.L529H	NM_194449.3	NP_919431.2	WXS	Illumina GAIIx	Phase_I	O60346	PHLP1_HUMAN			11	3367	+			1041					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.1586T>A	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	T	26.1	4.706504	0.89018	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	D;D	0.81908	-1.55;-1.55	4.91	4.91	0.64330	.	.	.	.	.	D	0.94391	0.8196	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96351	0.9258	9	0.87932	D	0	-11.5588	14.7109	0.69232	0.0:0.0:0.0:1.0	.	1041	O60346	PHLP1_HUMAN	H	529;1041	ENSP00000383170:L529H;ENSP00000262719:L1041H	ENSP00000262719:L1041H	L	+	2	0	PHLPP1	58760092	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	7.653000	0.83643	2.056000	0.61249	0.477000	0.44152	CTT		0.408	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		20	18	0	0	0	1	0	20	18					A	60609112	T	A	60609112	3	1	28	1	0	0	0	0	1	0	0	0	11863	1609	56	4	3164	4	PHLPP1	18	60609112	Missense_Mutation	SNP	T	TCGA-N8-A4PN-01A-11D-A28R-08	16053850	60609112	17468136	53	2764										
C19orf6	91304	broad.mit.edu	37	chr19	1011423	1011423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	agatggcgtcatactggtccGcgagccacacgatgaggatg	14	10	1	2			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr19:1011423G>A	ENST00000356663.3	-	9	1281	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V	TMEM259_ENST00000333175.5_Missense_Mutation_p.A387V	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	387						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											ATACTGGTCCGCGAGCCACAC	0.652																																						ENST00000356663.3																			0											c.(1159-1161)gCg>gTg		transmembrane protein 259							58	42	47					19																	1011423		2157	4259	6416	SO:0001583	missense	91304							g.chr19:1011423G>A	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.1160C>T	19.37:g.1011423G>A	ENSP00000349087:p.Ala387Val		Somatic				TMEM259_ENST00000333175.5_Missense_Mutation_p.A387V	p.A387V	NM_001033026.1	NP_001028198.1	WXS	Illumina GAIIx	Phase_I					9	1281	-								O60392|Q8NF79|Q96H30	Missense_Mutation	SNP	ENST00000356663.3	37	c.1160C>T	CCDS32862.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641675	0.87859	.	.	ENSG00000182087	ENST00000356663;ENST00000333175	.	.	.	3.81	3.81	0.43845	.	0.000000	0.85682	U	0.000000	T	0.79263	0.4416	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.83355	-0.0001	9	0.87932	D	0	-10.5383	14.7309	0.69379	0.0:0.0:1.0:0.0	.	387;387	Q4ZIN3-2;Q4ZIN3	.;MBRL_HUMAN	V	387	.	ENSP00000331423:A387V	A	-	2	0	C19orf6	962423	1.000000	0.71417	0.960000	0.40013	0.762000	0.43233	9.040000	0.93783	1.683000	0.51011	0.450000	0.29827	GCG		0.652	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		3	4	0	0	0	1	0	3	4					A	1011423	G	A	1011423	3	1	28	1	0	0	0	0	1	0	0	0	1943	1087	38	1	714	1	C19orf6	19	1011423	Missense_Mutation	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08		1011423	58117560	54	2765										
MUC16	94025	broad.mit.edu	37	chr19	9012504	9012504	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	tgcagccagagtacagaaggCcgacactggtgttcttgaac	12	10	1	3			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr19:9012504C>A	ENST00000397910.4	-	35	38905	c.38702G>T	c.(38701-38703)gGc>gTc	p.G12901V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12903	SEA 6. {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						GTACAGAAGGCCGACACTGGT	0.537																																						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.(38701-38703)gGc>gTc		mucin 16, cell surface associated							208	180	189					19																	9012504		2046	4188	6234	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9012504C>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.38702G>T	19.37:g.9012504C>A	ENSP00000381008:p.Gly12901Val		Somatic					p.G12901V	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			35	38905	-			12903			SEA 6.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38702G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.92	1.487376	0.26686	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.39056	1.1	2.95	2.95	0.34219	.	.	.	.	.	T	0.66218	0.2767	M	0.88310	2.945	.	.	.	D	0.89917	1.0	D	0.77004	0.989	T	0.77670	-0.2501	8	0.87932	D	0	-0.8845	10.003	0.41940	0.0:1.0:0.0:0.0	.	12901	B5ME49	.	V	12901;54	ENSP00000381008:G12901V	ENSP00000381008:G12901V	G	-	2	0	MUC16	8873504	0.006000	0.16342	0.005000	0.12908	0.007000	0.05969	2.238000	0.43070	1.594000	0.50039	0.313000	0.20887	GGC		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		40	106	1	0	4.14481e-20	1	4.44516e-20	40	106					A	9012504	C	A	9012504	3	1	28	1	0	0	0	0	1	0	0	0	9982	739	26	5	5021	5	MUC16	19	9012504	Missense_Mutation	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08	8001081	9012504	50116479	55	2766										
ACTN4	81	broad.mit.edu	37	chr19	39198795	39198795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	cttcaatgccctgatccaccGgcacagaccagagctgattg	9	14	1	4			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr19:39198795G>A	ENST00000252699.2	+	6	687	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	204	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)			CTGATCCACCGGCACAGACCA	0.567																																					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.(610-612)cGg>cAg		actinin, alpha 4							210	142	165					19																	39198795		2203	4300	6503	SO:0001583	missense	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.chr19:39198795G>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.611G>A	19.37:g.39198795G>A	ENSP00000252699:p.Arg204Gln		Somatic				ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Intron	p.R204Q	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)		6	687	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		204			Actin-binding.|CH 2.		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.611G>A	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	G	37	6.059815	0.97246	.	.	ENSG00000130402	ENST00000252699;ENST00000445727	D	0.94793	-3.52	5.08	5.08	0.68730	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.96237	0.8773	M	0.87547	2.89	0.80722	D	1	P;P	0.51537	0.931;0.946	P;P	0.49502	0.613;0.518	D	0.96884	0.9648	10	0.87932	D	0	.	17.7647	0.88475	0.0:0.0:1.0:0.0	.	204;204	E7EV83;O43707	.;ACTN4_HUMAN	Q	204	ENSP00000252699:R204Q	ENSP00000252699:R204Q	R	+	2	0	ACTN4	43890635	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.790000	0.85794	2.804000	0.96469	0.462000	0.41574	CGG		0.567	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			42	93	0	0	0	1	0	42	93					A	39198795	G	A	39198795	3	1	28	1	0	0	0	0	1	0	0	0	207	1116	39	1	633	1	ACTN4	19	39198795	Missense_Mutation	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08	30186291	39198795	19930188	56	2767										
PPP2R1A	5518	broad.mit.edu	37	chr19	52715982	52715982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	atgacacccccatggtgcggCgggccgcagcctccaagctg	13	16	0	1			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr19:52715982C>T	ENST00000322088.6	+	5	605	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128W|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4W	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R183W(22)|p.R183G(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CATGGTGCGGCGGGCCGCAGC	0.617			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		24	Substitution - Missense(24)	p.R183W(22)|p.R183G(2)	ovary(16)|endometrium(4)|large_intestine(3)|pancreas(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(547-549)Cgg>Tgg		protein phosphatase 2, regulatory subunit A, alpha							69	57	61					19																	52715982		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715982C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.547C>T	19.37:g.52715982C>T	ENSP00000324804:p.Arg183Trp		Somatic				PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128W|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4W	p.R183W	NM_014225.5	NP_055040.2	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	605	+			183			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.547C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360081	0.82353	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06528	3.29;3.29	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.114427	0.37136	N	0.002231	T	0.34193	0.0889	H	0.96333	3.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	T	0.40459	-0.9562	10	0.87932	D	0	-15.4468	10.2034	0.43099	0.1981:0.8019:0.0:0.0	.	128;183;183	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	W	173;103;183;128	ENSP00000324804:R183W;ENSP00000415067:R128W	ENSP00000324804:R183W	R	+	1	2	PPP2R1A	57407794	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.933000	0.63484	2.503000	0.84419	0.655000	0.94253	CGG		0.617	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		32	68	0	0	0	1	0	32	68					T	52715982	C	T	52715982	3	4	28	1	0	0	0	0	1	0	0	0	12394	759	27	1	565	1	PPP2R1A	19	52715982	Missense_Mutation	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08	13517187	52715982	6413001	57	2768										
NKAIN4	128414	broad.mit.edu	37	chr20	61875393	61875393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	cacagctgtcctcttcctccGtaaacacgctgaccacctgg	7	17	1	1	rs141841184		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr20:61875393G>A	ENST00000370316.3	-	5	604	c.515C>T	c.(514-516)aCg>aTg	p.T172M	NKAIN4_ENST00000370307.2_Missense_Mutation_p.T110M|NKAIN4_ENST00000370313.1_Missense_Mutation_p.T110M|NKAIN4_ENST00000466885.1_5'UTR	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					CTCTTCCTCCGTAAACACGCT	0.637																																						ENST00000370316.3																			0				endometrium(2)|lung(1)|ovary(1)	4						c.(514-516)aCg>aTg		Na+/K+ transporting ATPase interacting 4		G	MET/THR	0,4406		0,0,2203	79	68	72		515	2.9	0.1	20	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	NKAIN4	NM_152864.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	172/209	61875393	1,13005	2203	4300	6503	SO:0001583	missense	128414					integral to membrane|plasma membrane		g.chr20:61875393G>A	BC041812	CCDS13514.1	20q13.33	2007-10-04	2007-10-04	2007-10-04	ENSG00000101198	ENSG00000101198		"Na+/K+ transporting ATPase interacting"	16191	protein-coding gene	gene with protein product		612873	"chromosome 20 open reading frame 58"	C20orf58		17606467	Standard	NM_152864		Approved	bA261N11.2, FAM77A	uc002yek.3	Q8IVV8	OTTHUMG00000032959	ENST00000370316.3:c.515C>T	20.37:g.61875393G>A	ENSP00000359340:p.Thr172Met		Somatic				NKAIN4_ENST00000370313.1_Missense_Mutation_p.T110M|NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370307.2_Missense_Mutation_p.T110M	p.T172M	NM_152864.3	NP_690603.3	WXS	Illumina GAIIx	Phase_I	Q8IVV8	NKAI4_HUMAN			5	604	-	all_cancers(38;2.72e-09)		172					Q4VXQ6|Q9BQU8|Q9BQU9	Missense_Mutation	SNP	ENST00000370316.3	37	c.515C>T	CCDS13514.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.995|8.995	0.978640|0.978640	0.18812|0.18812	0.0|0.0	1.16E-4|1.16E-4	ENSG00000101198|ENSG00000101198	ENST00000370317|ENST00000370313;ENST00000370316;ENST00000370307	T|T;T;T	0.24151|0.14391	1.87|2.51;2.51;2.51	3.88|3.88	2.92|2.92	0.33932|0.33932	.|.	.|0.000000	.|0.64402	.|U	.|0.000002	T|T	0.14442|0.14442	0.0349|0.0349	L|L	0.59912|0.59912	1.85|1.85	0.27442|0.27442	N|N	0.953696|0.953696	.|D	.|0.53151	.|0.958	.|P	.|0.44477	.|0.451	T|T	0.09378|0.09378	-1.0677|-1.0677	7|10	0.87932|0.38643	D|T	0|0.18	-7.0E-4|-7.0E-4	6.9384|6.9384	0.24478|0.24478	0.2181:0.0:0.7819:0.0|0.2181:0.0:0.7819:0.0	.|.	.|172	.|Q8IVV8	.|NKAI4_HUMAN	W|M	127|110;172;110	ENSP00000359341:R127W|ENSP00000359336:T110M;ENSP00000359340:T172M;ENSP00000359330:T110M	ENSP00000359341:R127W|ENSP00000359330:T110M	R|T	-|-	1|2	2|0	NKAIN4|NKAIN4	61345838|61345838	0.082000|0.082000	0.21442|0.21442	0.070000|0.070000	0.20053|0.20053	0.018000|0.018000	0.09664|0.09664	1.544000|1.544000	0.36158|0.36158	0.613000|0.613000	0.30089|0.30089	0.397000|0.397000	0.26171|0.26171	CGG|ACG		0.637	NKAIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080117.3	NM_152864		4	45	0	0	0	1	0	4	45					A	61875393	G	A	61875393	3	1	28	1	0	0	0	0	1	0	0	0	10447	1145	40	1	123	1	NKAIN4	20	61875393	Missense_Mutation	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08		61875393	1150127	58	2769										
MCHR1	2847	broad.mit.edu	37	chr22	41077056	41077056	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	atcgggaactccacggtcatCttcgcggtcgtgaagaagtc	12	11	2	2			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr22:41077056C>T	ENST00000249016.4	+	2	1089	c.393C>T	c.(391-393)atC>atT	p.I131I	MCHR1_ENST00000381433.2_Silent_p.I131I|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	131					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CCACGGTCATCTTCGCGGTCG	0.557																																						ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(391-393)atC>atT		melanin-concentrating hormone receptor 1							168	134	145					22																	41077056		2203	4300	6503	SO:0001819	synonymous_variant	0				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077056C>T		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"GPCR / Class A : MCH receptors"	4479	protein-coding gene	gene with protein product		601751	"G protein-coupled receptor 24"	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.393C>T	22.37:g.41077056C>T			Somatic				MCHR1_ENST00000381433.2_Silent_p.I131I|MCHR1_ENST00000498400.1_3'UTR	p.I131I	NM_005297.3	NP_005288.3	WXS	Illumina GAIIx	Phase_I	Q99705	MCHR1_HUMAN			2	1089	+			131					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Silent	SNP	ENST00000249016.4	37	c.393C>T	CCDS14004.1																																																																																				0.557	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		21	58	0	0	0	1	0	21	58					T	41077056	C	T	41077056	2	4	28	1	0	0	0	0	0	0	0	1	9391	903	32	3		3	MCHR1	22	41077056	Silent	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08		41077056	10227510	59	2770										
SCML1	6322	broad.mit.edu	37	chrX	17770059	17770059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	acagatcctcttgcattatgCcctcttgtcgacctcttcag	6	14	4	1			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chrX:17770059C>T	ENST00000380041.3	+	7	1156	c.828C>T	c.(826-828)tgC>tgT	p.C276C	SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380043.3_Silent_p.C249C	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	276	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTGCATTATGCCCTCTTGTCG	0.448																																						ENST00000380043.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10						c.(745-747)tgC>tgT		sex comb on midleg-like 1 (Drosophila)							377	317	337					X																	17770059		2203	4300	6503	SO:0001819	synonymous_variant	6322				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:17770059C>T		CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"Sterile alpha motif (SAM) domain containing"	10580	protein-coding gene	gene with protein product		300227	"sex comb on midleg (Drosophila)-like 1"			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.828C>T	X.37:g.17770059C>T			Somatic				SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C	p.C249C	NM_006746.4	NP_006737.2	WXS	Illumina GAIIx	Phase_I	Q9UN30	SCML1_HUMAN			6	1075	+	Hepatocellular(33;0.183)		276					B0FZN6|B2RA08|Q5H968|Q5H969	Silent	SNP	ENST00000380041.3	37	c.747C>T	CCDS35210.1																																																																																				0.448	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746		5	406	0	0	0	1	0	5	406					T	17770059	C	T	17770059	2	4	28	1	0	0	0	0	0	0	0	1	13924	747	26	3		3	SCML1	23	17770059	Silent	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08		17770059	137500501	60	2771										
MAGEB2	4113	broad.mit.edu	37	chrX	30236898	30236898	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	gagcctcagagagccccaacCactgccgctgctgcggctgc	12	17	1	1			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chrX:30236898C>A	ENST00000378988.4	+	2	302	c.201C>A	c.(199-201)acC>acA	p.T67T		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	67										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GAGCCCCAACCACTGCCGCTG	0.562																																						ENST00000378988.4																			0				breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						c.(199-201)acC>acA		melanoma antigen family B, 2							12	11	11					X																	30236898		2187	4269	6456	SO:0001819	synonymous_variant	4113						protein binding	g.chrX:30236898C>A	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 6", "melanoma-associated antigen B2", "cancer/testis antigen family 3, member 2"	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.201C>A	X.37:g.30236898C>A			Somatic					p.T67T	NM_002364.4	NP_002355.2	WXS	Illumina GAIIx	Phase_I	O15479	MAGB2_HUMAN			2	302	+			67					O75860	Silent	SNP	ENST00000378988.4	37	c.201C>A	CCDS14219.1																																																																																				0.562	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		5	9	1	0	0.014758	1	0.014758	5	9					A	30236898	C	A	30236898	2	1	28	1	0	0	0	0	0	0	0	1	9185	581	21	5		5	MAGEB2	23	30236898	Silent	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08	12466839	30236898	125033662	61	2772										
KDM6A	7403	broad.mit.edu	37	chrX	44922731	44922731	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	taatgggccaacagctgactCatcactgcctacaaactcag	7	13	3	1			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chrX:44922731C>T	ENST00000377967.4	+	16	1633	c.1592C>T	c.(1591-1593)tCa>tTa	p.S531L	KDM6A_ENST00000543216.1_Missense_Mutation_p.S452L|KDM6A_ENST00000536777.1_Missense_Mutation_p.S486L|KDM6A_ENST00000382899.4_Missense_Mutation_p.S538L	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	531	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						ACAGCTGACTCATCACTGCCT	0.522			"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.(1591-1593)tCa>tTa		lysine (K)-specific demethylase 6A							79	64	69					X																	44922731		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:44922731C>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.1592C>T	X.37:g.44922731C>T	ENSP00000367203:p.Ser531Leu		Somatic				KDM6A_ENST00000543216.1_Missense_Mutation_p.S452L|KDM6A_ENST00000382899.4_Missense_Mutation_p.S538L|KDM6A_ENST00000536777.1_Missense_Mutation_p.S486L	p.S531L	NM_021140.2	NP_066963.2	WXS	Illumina GAIIx	Phase_I	O15550	KDM6A_HUMAN			16	1633	+			531					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.1592C>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.388771|4.388771	0.82902|0.82902	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000451692|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688	.|T;T;T;T	.|0.19669	.|2.13;2.15;2.17;2.16	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	.|0.127596	.|0.56097	.|D	.|0.000036	T|T	0.44644|0.44644	0.1303|0.1303	M|M	0.62723|0.62723	1.935|1.935	0.51767|0.51767	D|D	0.99993|0.99993	.|B;D;P;P;B;B	.|0.63046	.|0.164;0.992;0.917;0.928;0.099;0.104	.|B;D;P;P;B;B	.|0.71656	.|0.055;0.974;0.687;0.597;0.081;0.036	T|T	0.33137|0.33137	-0.9880|-0.9880	5|10	.|0.48119	.|T	.|0.1	-5.2936|-5.2936	17.7676|17.7676	0.88483|0.88483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|170;538;486;583;497;531	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.|.;.;.;.;.;KDM6A_HUMAN	Y|L	161|228;531;486;538;452;124	.|ENSP00000367203:S531L;ENSP00000437405:S486L;ENSP00000372355:S538L;ENSP00000443078:S452L	.|ENSP00000334340:S228L	H|S	+|+	1|2	0|0	KDM6A|KDM6A	44807675|44807675	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	3.589000|3.589000	0.53972|0.53972	2.213000|2.213000	0.71641|0.71641	0.513000|0.513000	0.50165|0.50165	CAT|TCA		0.522	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		29	32	0	0	0	1	0	29	32					T	44922731	C	T	44922731	3	4	28	1	0	0	0	0	1	0	0	0	8146	838	29	3	1654	3	KDM6A	23	44922731	Missense_Mutation	SNP	C	TCGA-N8-A4PN-01A-11D-A28R-08	14685833	44922731	110347829	62	2773										
FAM123B	139285	broad.mit.edu	37	chrX	63410058	63410058	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0952380952380952	6	1	1.01325556733828	1.38478260869565	0.961654589371981	0.118881118881119	0.605042016806723	0	gctctgggaggcctgtggctGgaggttatagcaagggccca	17	9	1	0			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chrX:63410058G>A	ENST00000330258.3	-	2	3381	c.3109C>T	c.(3109-3111)Cag>Tag	p.Q1037*	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	1037	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GCCTGTGGCTGGAGGTTATAG	0.597																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(3109-3111)Cag>Tag		APC membrane recruitment protein 1							27	33	31					X																	63410058		2060	4183	6243	SO:0001587	stop_gained	139285							g.chrX:63410058G>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.3109C>T	X.37:g.63410058G>A	ENSP00000329117:p.Gln1037*		Somatic				AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	p.Q1037*	NM_152424.3	NP_689637.3	WXS	Illumina GAIIx	Phase_I					2	3381	-								A2IB86|Q8N885	Nonsense_Mutation	SNP	ENST00000330258.3	37	c.3109C>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	39	7.395706	0.98258	.	.	ENSG00000184675	ENST00000330258	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.29723	N	0.838525	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.4416	10.1914	0.43028	0.0:0.1969:0.8031:0.0	.	.	.	.	X	1037	.	.	Q	-	1	0	FAM123B	63326783	0.467000	0.25831	0.181000	0.23098	0.170000	0.22686	1.545000	0.36169	2.349000	0.79799	0.529000	0.55759	CAG		0.597	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		3	21	0	0	0	1	0	3	21					A	63410058	G	A	63410058	4	1	28	1	0	0	0	0	0	1	0	0	5428	1357	47	3	302	3	FAM123B	23	63410058	Nonsense_Mutation	SNP	G	TCGA-N8-A4PN-01A-11D-A28R-08	18487327	63410058	91860502	63	2774										
CHD5	26038	broad.mit.edu	37	chr1	6209463	6209463	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	ggtctgtctcatagccgtcaCcatcatcaactagggtaggg	11	11	5	0			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:6209463C>G	ENST00000262450.3	-	8	1103	c.1004G>C	c.(1003-1005)gGt>gCt	p.G335A	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)		ATAGCCGTCACCATCATCAAC	0.582																																						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.(1003-1005)gGt>gCt		chromodomain helicase DNA binding protein 5							117	84	95					1																	6209463		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.chr1:6209463C>G	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.1004G>C	1.37:g.6209463C>G	ENSP00000262450:p.Gly335Ala		Somatic				CHD5_ENST00000378021.1_5'UTR	p.G335A	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)	8	1103	-	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)	335					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.1004G>C	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816044	0.32145	.	.	ENSG00000116254	ENST00000262450	D	0.84589	-1.87	4.03	4.03	0.46877	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	U	0.000002	T	0.79405	0.4440	L	0.58101	1.795	0.80722	D	1	B	0.32918	0.39	B	0.24541	0.054	T	0.76940	-0.2773	10	0.22706	T	0.39	-9.5779	13.2234	0.59901	0.0:0.8392:0.1608:0.0	.	335	Q8TDI0	CHD5_HUMAN	A	335	ENSP00000262450:G335A	ENSP00000262450:G335A	G	-	2	0	CHD5	6132050	1.000000	0.71417	0.992000	0.48379	0.873000	0.50193	4.676000	0.61627	1.995000	0.58328	0.313000	0.20887	GGT		0.582	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		15	21	0	0	0	1	0	15	21					G	6209463	C	G	6209463	3	3	29	1	0	0	0	0	1	0	0	0	3330	507	18	5	4996	5	CHD5	1	6209463	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08		6209463	243041158	1	2775										
C1orf38	9473	broad.mit.edu	37	chr1	28209315	28209315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	tggtgagcctagactctgagCctgggatgtgctttgagatc	14	8	1	4			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:28209315C>T	ENST00000373921.3	+	4	1484	c.1480C>T	c.(1480-1482)Cct>Tct	p.P494S	THEMIS2_ENST00000328928.7_Missense_Mutation_p.P365S|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	494	CABIT 2.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGACTCTGAGCCTGGGATGTG	0.617																																						ENST00000373921.3																			0											c.(1480-1482)Cct>Tct		thymocyte selection associated family member 2							119	115	116					1																	28209315		2082	4210	6292	SO:0001583	missense	9473							g.chr1:28209315C>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.1480C>T	1.37:g.28209315C>T	ENSP00000363031:p.Pro494Ser		Somatic				THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Missense_Mutation_p.P365S	p.P494S	NM_001105556.1	NP_001099026.1	WXS	Illumina GAIIx	Phase_I					4	1484	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.1480C>T	CCDS41290.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272254	0.59649	.	.	ENSG00000130775	ENST00000328928;ENST00000373921	T;T	0.13307	2.6;2.6	4.98	4.05	0.47172	.	0.049114	0.85682	D	0.000000	T	0.41096	0.1144	M	0.83483	2.645	0.33039	D	0.531134	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.999;0.998;0.949	T	0.62397	-0.6863	10	0.87932	D	0	-9.8281	15.2854	0.73826	0.0:0.8589:0.1411:0.0	.	365;298;494	Q5TEJ8-5;Q5TEJ8-6;Q5TEJ8	.;.;THMS2_HUMAN	S	365;494	ENSP00000329862:P365S;ENSP00000363031:P494S	ENSP00000329862:P365S	P	+	1	0	C1orf38	28081902	0.954000	0.32549	0.156000	0.22583	0.736000	0.42039	2.720000	0.47252	1.224000	0.43551	-0.315000	0.08773	CCT		0.617	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		30	59	0	0	0	1	0	30	59					T	28209315	C	T	28209315	3	4	29	1	0	0	0	0	1	0	0	0	2041	739	26	3	1494	3	C1orf38	1	28209315	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	21999852	28209315	221041306	2	2776										
PDE4DIP	9659	broad.mit.edu	37	chr1	144855783	144855783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	tgtgggtgcttggcagggccGctctccagaacatggtgagg	17	9	1	2			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:144855783G>A	ENST00000369354.3	-	41	6959	c.6770C>T	c.(6769-6771)gCg>gTg	p.A2257V	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2393V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2342V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2257V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2151V|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2257					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.A2257V(2)		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)		TGGCAGGGCCGCTCTCCAGAA	0.572			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)	p.A2257V(2)	lung(2)	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.(7177-7179)gCg>gTg		phosphodiesterase 4D interacting protein							55	51	53					1																	144855783		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144855783G>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.6770C>T	1.37:g.144855783G>A	ENSP00000358360:p.Ala2257Val		Somatic				PDE4DIP_ENST00000369354.3_Missense_Mutation_p.A2257V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2257V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2151V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2342V	p.A2393V			WXS	Illumina GAIIx	Phase_I	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	44	7216	-			2257					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.7178C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	34	5.357869	0.95854	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01821	4.62;4.67;4.67;4.74;4.67	4.87	3.95	0.45737	.	.	.	.	.	T	0.01156	0.0038	L	0.38733	1.17	0.80722	D	1	D;D	0.69078	0.975;0.997	P;P	0.50049	0.505;0.629	T	0.72808	-0.4181	9	0.18276	T	0.48	.	10.2192	0.43188	0.0976:0.0:0.9024:0.0	.	2151;2257	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	V	2151;2257;2257;2342;2393	ENSP00000327209:A2151V;ENSP00000358360:A2257V;ENSP00000358363:A2257V;ENSP00000435654:A2342V;ENSP00000358366:A2393V	ENSP00000327209:A2151V	A	-	2	0	PDE4DIP	143567140	1.000000	0.71417	0.459000	0.27081	0.667000	0.39255	4.730000	0.62015	2.262000	0.75019	0.549000	0.68633	GCG		0.572	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		6	69	0	0	0	1	0	6	69					A	144855783	G	A	144855783	3	1	29	1	0	0	0	0	1	0	0	0	11652	1087	38	1	286	1	PDE4DIP	1	144855783	Missense_Mutation	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	116646468	144855783	104394838	3	2777										
PDE4DIP	9659	broad.mit.edu	37	chr1	145015930	145015930	+	Frame_Shift_Del	DEL	T	T	-													0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	atgctctcaaggaatatgtcTgcacaaacgggaccttttca							TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:145015930delT	ENST00000530740.1	-	3	409	c.371delA	c.(370-372)cagfs	p.Q124fs	PDE4DIP_ENST00000369359.4_Frame_Shift_Del_p.Q124fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.Q53fs|PDE4DIP_ENST00000369348.3_Frame_Shift_Del_p.Q124fs|RP11-326G21.1_ENST00000610119.1_RNA|PDE4DIP_ENST00000493130.2_Frame_Shift_Del_p.Q53fs|PDE4DIP_ENST00000478649.2_Frame_Shift_Del_p.Q53fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAATATGTCTGCACAAACGG	0.453			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.(370-372)cgfs		phosphodiesterase 4D interacting protein							361	410	394					1																	145015930		2203	4300	6503	SO:0001589	frameshift_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145015930delT	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.371delA	1.37:g.145015930delT	ENSP00000435654:p.Gln124fs		Somatic				PDE4DIP_ENST00000369348.3_Frame_Shift_Del_p.Q124fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.Q124fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.Q53fs|PDE4DIP_ENST00000493130.2_Frame_Shift_Del_p.Q53fs|PDE4DIP_ENST00000478649.2_Frame_Shift_Del_p.Q53fs	p.Q124fs			WXS	Illumina GAIIx	Phase_I	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	3	409	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Frame_Shift_Del	DEL	ENST00000530740.1	37	c.371delA																																																																																					0.453	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		19	657						19	657	---	---	---	---	-	145015930	T	-	145015930	7	5	29	1	0	1	0	1	0	0	0	0	11652	1580	55	0	8433	0	PDE4DIP	1	145015930	Frame_Shift_Del	DEL	T	TCGA-N8-A4PO-01A-11D-A28R-08	160147	145015930	104234691	4	2778										
ITGA10	8515	broad.mit.edu	37	chr1	145538291	145538291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	cctacatccaatatgagcccCacctcctgttctctaggtat	5	15	1	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:145538291C>T	ENST00000369304.3	+	23	2993	c.2818C>T	c.(2818-2820)Cac>Tac	p.H940Y	ITGA10_ENST00000538811.1_Missense_Mutation_p.H809Y|ITGA10_ENST00000539363.1_Missense_Mutation_p.H797Y	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	940					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)					ATATGAGCCCCACCTCCTGTT	0.552																																						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.(2818-2820)Cac>Tac		integrin, alpha 10							156	126	136					1																	145538291		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145538291C>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.2818C>T	1.37:g.145538291C>T	ENSP00000358310:p.His940Tyr		Somatic				ITGA10_ENST00000539363.1_Missense_Mutation_p.H797Y|ITGA10_ENST00000538811.1_Missense_Mutation_p.H809Y	p.H940Y	NM_003637.3	NP_003628.2	WXS	Illumina GAIIx	Phase_I	O75578	ITA10_HUMAN			23	2993	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		940					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.2818C>T	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	9.515	1.106691	0.20714	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.43688	0.94;0.94;0.94	5.8	4.87	0.63330	Integrin alpha-2 (1);	0.287888	0.33110	N	0.005279	T	0.21062	0.0507	L	0.29908	0.895	0.32885	D	0.511106	B;B;P;B	0.37122	0.013;0.451;0.583;0.288	B;B;B;B	0.40038	0.026;0.212;0.185;0.317	T	0.12604	-1.0541	10	0.52906	T	0.07	.	11.3652	0.49668	0.0:0.7674:0.2326:0.0	.	906;809;797;940	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	Y	940;906;797;809	ENSP00000358310:H940Y;ENSP00000439894:H797Y;ENSP00000440011:H809Y	ENSP00000358310:H940Y	H	+	1	0	ITGA10	144249648	1.000000	0.71417	0.855000	0.33649	0.087000	0.18053	4.294000	0.59043	2.755000	0.94549	0.655000	0.94253	CAC		0.552	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		47	122	0	0	0	1	0	47	122					T	145538291	C	T	145538291	3	4	29	1	0	0	0	0	1	0	0	0	7882	594	21	3	2908	3	ITGA10	1	145538291	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	522361	145538291	103712330	5	2779										
ARHGEF2	9181	broad.mit.edu	37	chr1	155920676	155920676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	tgcggggaggctgcgccgccGaggatccacaggtctgcggg	19	12	1	0			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:155920676G>A	ENST00000361247.4	-	20	2746	c.2647C>T	c.(2647-2649)Cgg>Tgg	p.R883W	ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R882W|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R884W|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R928W|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R855W|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R855W	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	883					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)					CTGCGCCGCCGAGGATCCACA	0.677																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(2563-2565)Cgg>Tgg		Rho/Rac guanine nucleotide exchange factor (GEF) 2							34	39	37					1																	155920676		2194	4267	6461	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.chr1:155920676G>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.2647C>T	1.37:g.155920676G>A	ENSP00000354837:p.Arg883Trp		Somatic				ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R884W|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R855W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R882W|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R883W	p.R855W			WXS	Illumina GAIIx	Phase_I	Q92974	ARHG2_HUMAN			24	3033	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		883					D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.2563C>T	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032161	0.35893	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.71817	-0.59;-0.48;-0.49;-0.59;-0.6	5.27	2.3	0.28687	.	0.000000	0.43919	D	0.000518	T	0.59689	0.2212	N	0.19112	0.55	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74023	0.948;0.948;0.977;0.982	T	0.60687	-0.7214	10	0.62326	D	0.03	-31.316	12.5934	0.56454	0.0:0.0:0.5671:0.4329	.	927;883;882;884	D3DVA5;Q92974;Q92974-2;Q5VY93	.;ARHG2_HUMAN;.;.	W	855;883;884;855;882	ENSP00000315325:R855W;ENSP00000354837:R883W;ENSP00000357298:R884W;ENSP00000357299:R855W;ENSP00000314787:R882W	ENSP00000314787:R882W	R	-	1	2	ARHGEF2	154187300	0.566000	0.26618	0.025000	0.17156	0.917000	0.54804	0.759000	0.26461	0.332000	0.23536	-0.182000	0.12963	CGG		0.677	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		36	151	0	0	0	1	0	36	151					A	155920676	G	A	155920676	3	1	29	1	0	0	0	0	1	0	0	0	903	1057	37	1	325	1	ARHGEF2	1	155920676	Missense_Mutation	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	10382385	155920676	93329945	6	2780										
LRRN2	10446	broad.mit.edu	37	chr1	204588892	204588892	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	acggacaatgctgttgctctGcaggagcagggtctgtgtgc	15	9	2	0			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:204588892G>A	ENST00000367175.1	-	1	2441	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367177.3_Nonsense_Mutation_p.Q77*|LRRN2_ENST00000367176.3_Nonsense_Mutation_p.Q77*			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	77					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)			CTGTTGCTCTGCAGGAGCAGG	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.(229-231)Cag>Tag		leucine rich repeat neuronal 2							66	63	64					1																	204588892		2203	4300	6503	SO:0001587	stop_gained	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204588892G>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.229C>T	1.37:g.204588892G>A	ENSP00000356143:p.Gln77*		Somatic				LRRN2_ENST00000367176.3_Nonsense_Mutation_p.Q77*|LRRN2_ENST00000367177.3_Nonsense_Mutation_p.Q77*	p.Q77*			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	2441	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		77					B2R624|Q5T0Y0|Q6UXM0|Q8N182	Nonsense_Mutation	SNP	ENST00000367175.1	37	c.229C>T	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	G	40	8.426355	0.98806	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	.	.	.	5.67	5.67	0.87782	.	0.000000	0.40469	N	0.001081	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4225	0.94727	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000356143:Q77X	Q	-	1	0	LRRN2	202855515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.866000	0.99616	2.684000	0.91462	0.650000	0.86243	CAG		0.617	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		5	94	0	0	0	1	0	5	94					A	204588892	G	A	204588892	4	1	29	1	0	0	0	0	0	1	0	0	9044	1328	46	3	1916	3	LRRN2	1	204588892	Nonsense_Mutation	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	48668216	204588892	44661729	7	2781										
RYR2	6262	broad.mit.edu	37	chr1	237586402	237586402	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	ttttcattaggtggagtggaAgccacataagatggggacag	14	5	1	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:237586402A>T	ENST00000366574.2	+	12	1176	c.859A>T	c.(859-861)Agc>Tgc	p.S287C	RYR2_ENST00000360064.6_Missense_Mutation_p.S285C|RYR2_ENST00000542537.1_Missense_Mutation_p.S271C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	287	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.S285G(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)			GTGGAGTGGAAGCCACATAAG	0.423																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.S285G(1)	kidney(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.(859-861)Agc>Tgc		ryanodine receptor 2 (cardiac)							153	149	151					1																	237586402		1929	4134	6063	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.chr1:237586402A>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.859A>T	1.37:g.237586402A>T	ENSP00000355533:p.Ser287Cys		Somatic				RYR2_ENST00000360064.6_Missense_Mutation_p.S285C|RYR2_ENST00000542537.1_Missense_Mutation_p.S271C	p.S287C	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		12	1176	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	287			MIR 4.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.859A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.693117	0.88735	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91894	-2.93;-2.93;-2.93	5.42	5.42	0.78866	MIR motif (2);MIR (2);	0.126896	0.49305	D	0.000154	D	0.95815	0.8638	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.96309	0.9227	10	0.72032	D	0.01	.	15.4489	0.75257	1.0:0.0:0.0:0.0	.	287	Q92736	RYR2_HUMAN	C	287;285;271	ENSP00000355533:S287C;ENSP00000353174:S285C;ENSP00000443798:S271C	ENSP00000353174:S285C	S	+	1	0	RYR2	235653025	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.442000	0.80503	2.054000	0.61138	0.533000	0.62120	AGC		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	131	0	0	0	1	0	4	131					T	237586402	A	T	237586402	3	4	29	1	0	0	0	0	1	0	0	0	13784	72	3	4	905	4	RYR2	1	237586402	Missense_Mutation	SNP	A	TCGA-N8-A4PO-01A-11D-A28R-08	32997510	237586402	11664219	8	2782										
RYR2	6262	broad.mit.edu	37	chr1	237870323	237870323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	agaaactcatggaagaaatcGtggaattagccgagtccggc	12	8	1	2	rs371147744		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:237870323G>A	ENST00000366574.2	+	68	9972	c.9655G>A	c.(9655-9657)Gtg>Atg	p.V3219M	RYR2_ENST00000360064.6_Missense_Mutation_p.V3217M|RYR2_ENST00000542537.1_Missense_Mutation_p.V3203M|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3219					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)			GGAAGAAATCGTGGAATTAGC	0.448																																						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.(9655-9657)Gtg>Atg		ryanodine receptor 2 (cardiac)		G	MET/VAL	0,3898		0,0,1949	130	128	129		9655	3.8	1	1		129	1,8321		0,1,4160	no	missense	RYR2	NM_001035.2	21	0,1,6109	AA,AG,GG		0.012,0.0,0.0082	possibly-damaging	3219/4968	237870323	1,12219	1949	4161	6110	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.chr1:237870323G>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.9655G>A	1.37:g.237870323G>A	ENSP00000355533:p.Val3219Met		Somatic				RYR2_ENST00000360064.6_Missense_Mutation_p.V3217M|RYR2_ENST00000542537.1_Missense_Mutation_p.V3203M	p.V3219M	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		68	9972	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3219					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9655G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181611	0.38511	0.0	1.2E-4	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	D;D;D	0.88124	-2.34;-2.34;-2.34	5.72	3.82	0.43975	.	0.212399	0.29707	N	0.011414	T	0.73289	0.3568	N	0.22421	0.69	0.80722	D	1	P	0.38440	0.631	B	0.26517	0.07	T	0.73616	-0.3926	10	0.49607	T	0.09	-16.5975	8.5719	0.33574	0.2322:0.0:0.7678:0.0	.	3219	Q92736	RYR2_HUMAN	M	3219;3217;3203;174;214	ENSP00000355533:V3219M;ENSP00000353174:V3217M;ENSP00000443798:V3203M	ENSP00000353174:V3217M	V	+	1	0	RYR2	235936946	0.971000	0.33674	0.978000	0.43139	0.978000	0.69477	1.848000	0.39309	1.397000	0.46682	0.650000	0.86243	GTG		0.448	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		19	161	0	0	0	1	0	19	161					A	237870323	G	A	237870323	3	1	29	1	0	0	0	0	1	0	0	0	13784	1145	40	1	9925	1	RYR2	1	237870323	Missense_Mutation	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	283921	237870323	11380298	9	2783										
C2orf16	84226	broad.mit.edu	37	chr2	27803080	27803080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	ttccaagagtcctacttccaCaatagatttgcagtctgggc	8	11	1	2			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:27803080C>T	ENST00000408964.2	+	1	3692	c.3641C>T	c.(3640-3642)aCa>aTa	p.T1214I	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1214						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)					CCTACTTCCACAATAGATTTG	0.463																																						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.(3640-3642)aCa>aTa		chromosome 2 open reading frame 16							109	108	108					2																	27803080		1894	4115	6009	SO:0001583	missense	84226							g.chr2:27803080C>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.3641C>T	2.37:g.27803080C>T	ENSP00000386190:p.Thr1214Ile		Somatic					p.T1214I	NM_032266.3	NP_115642.3	WXS	Illumina GAIIx	Phase_I	Q68DN1	CB016_HUMAN			1	3692	+	Acute lymphoblastic leukemia(172;0.155)		1214					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.3641C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	9.804	1.181227	0.21787	.	.	ENSG00000221843	ENST00000408964	T	0.06294	3.32	5.19	2.12	0.27331	.	.	.	.	.	T	0.09247	0.0228	N	0.24115	0.695	0.09310	N	1	D	0.65815	0.995	P	0.61592	0.891	T	0.26430	-1.0103	9	0.56958	D	0.05	.	4.0443	0.09766	0.165:0.5808:0.1604:0.0938	.	1214	Q68DN1	CB016_HUMAN	I	1214	ENSP00000386190:T1214I	ENSP00000386190:T1214I	T	+	2	0	C2orf16	27656584	0.004000	0.15560	0.016000	0.15963	0.060000	0.15804	0.329000	0.19698	1.110000	0.41699	0.467000	0.42956	ACA		0.463	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		34	67	0	0	0	1	0	34	67					T	27803080	C	T	27803080	3	4	29	1	0	0	0	0	1	0	0	0	2159	478	17	3	3643	3	C2orf16	2	27803080	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08		27803080	215396293	10	2784										
ALK	238	broad.mit.edu	37	chr2	29450452	29450452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	gaagctaccttttaaagctgGggtgtacaggatgcccagtg	13	8	0	0			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:29450452G>A	ENST00000389048.3	-	17	3808	c.2902C>T	c.(2902-2904)Cca>Tca	p.P968S	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	968					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)	TTTAAAGCTGGGGTGTACAGG	0.517			"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.(2902-2904)Cca>Tca		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						179	169	172					2																	29450452		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.chr2:29450452G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2902C>T	2.37:g.29450452G>A	ENSP00000373700:p.Pro968Ser		Somatic				ALK_ENST00000431873.1_Intron	p.P968S	NM_004304.4	NP_004295.2	WXS	Illumina GAIIx	Phase_I	Q9UM73	ALK_HUMAN			17	3808	-	Acute lymphoblastic leukemia(172;0.155)		968					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.2902C>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006943	0.54361	.	.	ENSG00000171094	ENST00000389048	T	0.75704	-0.96	5.0	5.0	0.66597	.	0.000000	0.45867	U	0.000332	T	0.68559	0.3014	L	0.44542	1.39	0.80722	D	1	B	0.28470	0.213	B	0.28385	0.089	T	0.64833	-0.6314	9	.	.	.	.	18.2971	0.90150	0.0:0.0:1.0:0.0	.	968	Q9UM73	ALK_HUMAN	S	968	ENSP00000373700:P968S	.	P	-	1	0	ALK	29303956	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.507000	0.53371	2.319000	0.78375	0.561000	0.74099	CCA		0.517	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		17	113	0	0	0	1	0	17	113					A	29450452	G	A	29450452	3	1	29	1	0	0	0	0	1	0	0	0	525	1232	43	3	2012	3	ALK	2	29450452	Missense_Mutation	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	1647372	29450452	213748921	11	2785										
SFTPB	6439	broad.mit.edu	37	chr2	85890855	85890855	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	ccagctggggcagcatgcggCccagcagcgtgtcgagcagg	17	13	0	0			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:85890855C>A	ENST00000519937.2	-	7	807	c.788G>T	c.(787-789)gGc>gTc	p.G263V	SFTPB_ENST00000409383.1_Missense_Mutation_p.G275V|SFTPB_ENST00000342375.3_Missense_Mutation_p.G263V|SFTPB_ENST00000393822.3_Missense_Mutation_p.G275V			P07988	PSPB_HUMAN	surfactant protein B	263	Saposin B-type 2. {ECO:0000255|PROSITE- ProRule:PRU00415}.				organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CAGCATGCGGCCCAGCAGCGT	0.682																																						ENST00000393822.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						c.(823-825)gGc>gTc		surfactant protein B							25	26	25					2																	85890855		2199	4295	6494	SO:0001583	missense	6439				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		g.chr2:85890855C>A	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"surfactant, pulmonary-associated protein B"	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.788G>T	2.37:g.85890855C>A	ENSP00000428719:p.Gly263Val		Somatic				SFTPB_ENST00000409383.1_Missense_Mutation_p.G275V|SFTPB_ENST00000342375.3_Missense_Mutation_p.G263V|SFTPB_ENST00000519937.2_Missense_Mutation_p.G263V	p.G275V			WXS	Illumina GAIIx	Phase_I	P07988	PSPB_HUMAN			8	923	-			263			Saposin B-type 2.		Q96R04	Missense_Mutation	SNP	ENST00000519937.2	37	c.824G>T		.	.	.	.	.	.	.	.	.	.	C	14.68	2.608241	0.46527	.	.	ENSG00000168878	ENST00000519937;ENST00000393822;ENST00000342375;ENST00000409383;ENST00000441838	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.34	3.53	0.40419	Saposin-like (2);Saposin-like type B, 2 (1);Saposin B (2);	0.000000	0.56097	D	0.000040	D	0.85366	0.5680	L	0.42245	1.32	0.50813	D	0.999898	P;D	0.52996	0.911;0.957	P;P	0.58577	0.572;0.841	T	0.81865	-0.0736	10	0.36615	T	0.2	-6.5071	8.6387	0.33964	0.0:0.8211:0.0:0.1789	.	275;263	D6W5L6;P07988	.;PSPB_HUMAN	V	265;275;263;275;231	ENSP00000428719:G265V;ENSP00000377409:G275V;ENSP00000345161:G263V;ENSP00000386346:G275V	ENSP00000345161:G263V	G	-	2	0	SFTPB	85744366	0.994000	0.37717	0.982000	0.44146	0.392000	0.30506	0.735000	0.26115	0.629000	0.30376	0.561000	0.74099	GGC		0.682	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843		3	20	1	0	1	1	1	3	20					A	85890855	C	A	85890855	3	1	29	1	0	0	0	0	1	0	0	0	14206	739	26	5	373	5	SFTPB	2	85890855	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	56440403	85890855	157308518	12	2786										
PROM2	150696	broad.mit.edu	37	chr2	95954317	95954317	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	aagacctccaaatacttccgTcctatccggaaacgcctcag	6	15	1	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:95954317T>C	ENST00000317620.9	+	22	2554	c.2421T>C	c.(2419-2421)cgT>cgC	p.R807R	PROM2_ENST00000542147.1_Silent_p.R758R|PROM2_ENST00000403131.2_Silent_p.R807R|PROM2_ENST00000317668.4_Silent_p.R807R	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	807					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)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AATACTTCCGTCCTATCCGGA	0.602																																						ENST00000317620.9																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(2419-2421)cgT>cgC		prominin 2							140	109	119					2																	95954317		2203	4300	6503	SO:0001819	synonymous_variant	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95954317T>C	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.2421T>C	2.37:g.95954317T>C			Somatic				PROM2_ENST00000317668.4_Silent_p.R807R|PROM2_ENST00000403131.2_Silent_p.R807R|PROM2_ENST00000542147.1_Silent_p.R758R	p.R807R	NM_001165978.1	NP_001159450.1	WXS	Illumina GAIIx	Phase_I	Q8N271	PROM2_HUMAN			22	2554	+			807					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	ENST00000317620.9	37	c.2421T>C	CCDS2012.1																																																																																				0.602	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		6	127	0	0	0	1	0	6	127					C	95954317	T	C	95954317	2	2	29	1	0	0	0	0	0	0	0	1	12568	1654	58	4		4	PROM2	2	95954317	Silent	SNP	T	TCGA-N8-A4PO-01A-11D-A28R-08	10063462	95954317	147245056	13	2787										
ANKAR	150709	broad.mit.edu	37	chr2	190606164	190606164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	gctctgctatcatttgtactCgggaatagaagaggtaaaaa	10	6	2	2			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:190606164C>T	ENST00000520309.1	+	20	3885	c.3797C>T	c.(3796-3798)tCg>tTg	p.S1266L	ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.S1266L|ANKAR_ENST00000431575.2_Missense_Mutation_p.S1195L	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1266						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CATTTGTACTCGGGAATAGAA	0.358																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(3796-3798)tCg>tTg		ankyrin and armadillo repeat containing							55	55	55					2																	190606164		2203	4299	6502	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190606164C>T	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3797C>T	2.37:g.190606164C>T	ENSP00000427882:p.Ser1266Leu		Somatic				ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.S1266L|ANKAR_ENST00000431575.2_Missense_Mutation_p.S1195L	p.S1266L	NM_144708.3	NP_653309.3	WXS	Illumina GAIIx	Phase_I	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		20	3885	+			1266					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.3797C>T	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890583	0.33348	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000431575;ENST00000374838	T;T;T	0.05025	3.51;3.51;3.51	5.54	5.54	0.83059	.	0.325052	0.25055	N	0.033499	T	0.14056	0.0340	M	0.72894	2.215	0.80722	D	1	D	0.58620	0.983	P	0.47402	0.546	T	0.00215	-1.1911	10	0.87932	D	0	-9.6389	13.929	0.63981	0.0:0.8474:0.1526:0.0	.	342	E9PHS9	.	L	1266;1266;1195;342	ENSP00000427882:S1266L;ENSP00000313513:S1266L;ENSP00000393043:S1195L	ENSP00000313513:S1266L	S	+	2	0	ANKAR	190314409	0.980000	0.34600	0.949000	0.38748	0.211000	0.24417	3.417000	0.52714	2.606000	0.88127	0.585000	0.79938	TCG		0.358	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		38	18	0	0	0	1	0	38	18					T	190606164	C	T	190606164	3	4	29	1	0	0	0	0	1	0	0	0	623	893	31	1	3871	1	ANKAR	2	190606164	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	94651847	190606164	52593209	14	2788										
PRR23B	389151	broad.mit.edu	37	chr3	138739287	138739287	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	caccaggtcgacgtcgtccaGgggcacacgcagggcacagc	14	15	0	0			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:138739287G>C	ENST00000329447.5	-	1	481	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	73										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACGTCGTCCAGGGGCACACGC	0.701																																						ENST00000329447.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(217-219)Ctg>Gtg		proline rich 23B							23	21	22					3																	138739287		2201	4295	6496	SO:0001583	missense	389151							g.chr3:138739287G>C	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.217C>G	3.37:g.138739287G>C	ENSP00000328768:p.Leu73Val		Somatic				MRPS22_ENST00000495075.1_Intron	p.L73V	NM_001013650.2	NP_001013672.1	WXS	Illumina GAIIx	Phase_I	Q6ZRT6	PR23B_HUMAN			1	481	-			73					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.217C>G	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.498961	0.44455	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.15	2.25	0.28309	.	0.978923	0.08299	N	0.967274	T	0.53045	0.1772	M	0.66939	2.045	0.09310	N	1	P	0.51240	0.943	P	0.53912	0.737	T	0.38845	-0.9642	9	0.72032	D	0.01	.	7.5473	0.27775	0.0:0.0:0.7446:0.2554	.	73	Q6ZRT6	PR23B_HUMAN	V	73	.	ENSP00000328768:L73V	L	-	1	2	PRR23B	140221977	0.027000	0.19231	0.019000	0.16419	0.157000	0.22087	1.636000	0.37144	0.863000	0.35553	0.491000	0.48974	CTG		0.701	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		6	58	0	0	0	1	0	6	58					C	138739287	G	C	138739287	3	2	29	1	0	0	0	0	1	0	0	0	12607	991	35	5	584	5	PRR23B	3	138739287	Missense_Mutation	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08		138739287	59283143	15	2789										
ATP11B	23200	broad.mit.edu	37	chr3	182559896	182559896	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	atgatcataacccaacaaatGgaagaaattgtaaggtaaga	8	5	1	3			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:182559896G>T	ENST00000323116.5	+	8	950	c.690G>T	c.(688-690)atG>atT	p.M230I	ATP11B_ENST00000482794.1_3'UTR	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	230					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)			CCCAACAAATGGAAGAAATTG	0.318																																						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.(688-690)atG>atT		ATPase, class VI, type 11B							98	103	101					3																	182559896		2203	4300	6503	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.chr3:182559896G>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.690G>T	3.37:g.182559896G>T	ENSP00000321195:p.Met230Ile		Somatic				ATP11B_ENST00000482794.1_3'UTR	p.M230I	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)		8	950	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		230					Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.690G>T	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.34|12.34	1.907862|1.907862	0.33721|0.33721	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000323116|ENST00000498086	T|.	0.61859|.	0.07|.	5.72|5.72	5.72|5.72	0.89469|0.89469	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);|.	0.245034|.	0.49916|.	D|.	0.000123|.	T|T	0.42539|0.42539	0.1207|0.1207	N|N	0.13098|0.13098	0.295|0.295	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.29458|0.29458	-1.0011|-1.0011	10|5	0.29301|.	T|.	0.29|.	.|.	13.7674|13.7674	0.63004|0.63004	0.0:0.0:0.7787:0.2213|0.0:0.0:0.7787:0.2213	.|.	230|.	Q9Y2G3|.	AT11B_HUMAN|.	I|L	230|31	ENSP00000321195:M230I|.	ENSP00000321195:M230I|.	M|W	+|+	3|2	0|0	ATP11B|ATP11B	184042590|184042590	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	1.488000|1.488000	0.35551|0.35551	2.710000|2.710000	0.92621|0.92621	0.585000|0.585000	0.79938|0.79938	ATG|TGG		0.318	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		4	36	1	0	1	1	1	4	36					T	182559896	G	T	182559896	3	4	29	1	0	0	0	0	1	0	0	0	1120	1348	47	5	720	5	ATP11B	3	182559896	Missense_Mutation	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	43820609	182559896	15462534	16	2790										
ATP13A4	84239	broad.mit.edu	37	chr3	193188759	193188759	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	atctccaggcaccaggacgcGtgattccagctcttgaactc	9	14	2	2	rs371143653		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:193188759G>T	ENST00000342695.4	-	9	1154	c.832C>A	c.(832-834)Cgc>Agc	p.R278S	ATP13A4_ENST00000392443.3_Missense_Mutation_p.R278S|ATP13A4_ENST00000295548.3_Missense_Mutation_p.R278S	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	278						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)		ACCAGGACGCGTGATTCCAGC	0.443																																						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.(832-834)Cgc>Agc		ATPase type 13A4							145	143	144					3																	193188759		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193188759G>T	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.832C>A	3.37:g.193188759G>T	ENSP00000339182:p.Arg278Ser		Somatic				ATP13A4_ENST00000295548.3_Missense_Mutation_p.R278S|ATP13A4_ENST00000392443.3_Missense_Mutation_p.R278S	p.R278S	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)	9	1154	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		278					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.832C>A	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732415	0.48939	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	D;D;D	0.90385	-2.66;-2.66;-2.66	5.44	3.62	0.41486	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.502926	0.20156	N	0.098060	D	0.86797	0.6019	N	0.21617	0.685	0.09310	N	0.999993	P;P	0.42785	0.79;0.726	P;P	0.53912	0.693;0.737	T	0.75895	-0.3156	10	0.05833	T	0.94	-16.1724	10.7777	0.46358	0.1538:0.0:0.8462:0.0	.	278;278	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	S	278	ENSP00000376238:R278S;ENSP00000339182:R278S;ENSP00000295548:R278S	ENSP00000295548:R278S	R	-	1	0	ATP13A4	194671453	0.006000	0.16342	0.835000	0.33067	0.271000	0.26615	1.203000	0.32284	1.281000	0.44480	0.650000	0.86243	CGC		0.443	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		29	220	1	0	1.13719e-10	1	1.29086e-10	29	220					T	193188759	G	T	193188759	3	4	29	1	0	0	0	0	1	0	0	0	1126	1145	40	5	2846	5	ATP13A4	3	193188759	Missense_Mutation	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	10628863	193188759	4833671	17	2791										
NR3C2	4306	broad.mit.edu	37	chr4	149357868	149357868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	aatagcaccggaaacacagcTtacgttgacaatctccatgt	7	11	1	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr4:149357868T>C	ENST00000358102.3	-	2	507	c.145A>G	c.(145-147)Agc>Ggc	p.S49G	NR3C2_ENST00000512865.1_Missense_Mutation_p.S49G|NR3C2_ENST00000511528.1_Missense_Mutation_p.S49G|NR3C2_ENST00000355292.3_Missense_Mutation_p.S49G|NR3C2_ENST00000344721.4_Missense_Mutation_p.S49G	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	49	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GAAACACAGCTTACGTTGACA	0.483																																					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.(145-147)Agc>Ggc		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						161	154	156					4																	149357868		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149357868T>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.145A>G	4.37:g.149357868T>C	ENSP00000350815:p.Ser49Gly		Somatic				NR3C2_ENST00000512865.1_Missense_Mutation_p.S49G|NR3C2_ENST00000511528.1_Missense_Mutation_p.S49G|NR3C2_ENST00000358102.3_Missense_Mutation_p.S49G|NR3C2_ENST00000344721.4_Missense_Mutation_p.S49G|NR3C2_ENST00000342437.4_Missense_Mutation_p.S49G	p.S49G			WXS	Illumina GAIIx	Phase_I	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	507	-	all_hematologic(180;0.151)		49			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.145A>G	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.322285	0.41096	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.91945	-2.93;-2.94;-2.93;-2.56;-2.53;-2.94	5.92	4.73	0.59995	.	0.080241	0.85682	D	0.000000	D	0.87402	0.6168	L	0.40543	1.245	0.41304	D	0.987065	B;B	0.24368	0.089;0.102	B;B	0.20577	0.03;0.021	T	0.82210	-0.0570	9	.	.	.	.	13.3209	0.60432	0.0:0.0:0.132:0.868	.	49;49	B0ZBF5;B0ZBF6	.;.	G	49	ENSP00000341390:S49G;ENSP00000347441:S49G;ENSP00000350815:S49G;ENSP00000423510:S49G;ENSP00000343907:S49G;ENSP00000421481:S49G	.	S	-	1	0	NR3C2	149577318	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	5.947000	0.70242	1.054000	0.40438	0.533000	0.62120	AGC		0.483	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			19	44	0	0	0	1	0	19	44					C	149357868	T	C	149357868	3	2	29	1	0	0	0	0	1	0	0	0	10640	1609	56	4	2841	4	NR3C2	4	149357868	Missense_Mutation	SNP	T	TCGA-N8-A4PO-01A-11D-A28R-08		149357868	41796408	18	2792										
SLC12A7	10723	broad.mit.edu	37	chr5	1075524	1075524	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	ttgtagatgcagccagcgatGagcatggcggacagcgcgta	15	9	0	2	rs137990661		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:1075524G>A	ENST00000264930.5	-	15	1972	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	643					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)	AGCCAGCGATGAGCATGGCGG	0.637													G|||	1	0.000199681	0	0	5008	,	,		19454	0		0.001	False		,,,				2504	0					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1927-1929)ctC>ctT		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	G		2,4402	6.2+/-15.9	0,2,2200	67	60	63		1929	1.3	1	5	dbSNP_134	63	19,8581	14.0+/-48.4	0,19,4281	no	coding-synonymous	SLC12A7	NM_006598.2		0,21,6481	AA,AG,GG		0.2209,0.0454,0.1615		643/1084	1075524	21,12983	2202	4300	6502	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1075524G>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.1929C>T	5.37:g.1075524G>A			Somatic					p.L643L	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)		15	1972	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		643					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.1929C>T	CCDS34129.1																																																																																				0.637	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		30	62	0	0	0	1	0	30	62					A	1075524	G	A	1075524	2	1	29	1	0	0	0	0	0	0	0	1	14403	1277	45	3		3	SLC12A7	5	1075524	Silent	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08		1075524	179839736	19	2793										
TRIO	7204	broad.mit.edu	37	chr5	14487604	14487604	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	ccaatcgagtaccagaggaaCcacagcgggggcggcggcgg	17	12	0	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:14487604C>G	ENST00000344204.4	+	48	6891	c.6867C>G	c.(6865-6867)aaC>aaG	p.N2289K	TRIO_ENST00000344135.5_5'Flank|TRIO_ENST00000537187.1_Missense_Mutation_p.N2289K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2289					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)					ACCAGAGGAACCACAgcgggg	0.746																																						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.(6865-6867)aaC>aaG		trio Rho guanine nucleotide exchange factor							12	13	13					5																	14487604		2121	4078	6199	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.chr5:14487604C>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.6867C>G	5.37:g.14487604C>G	ENSP00000339299:p.Asn2289Lys		Somatic				TRIO_ENST00000537187.1_Missense_Mutation_p.N2289K	p.N2289K	NM_007118.2	NP_009049.2	WXS	Illumina GAIIx	Phase_I	O75962	TRIO_HUMAN			48	6891	+	Lung NSC(4;0.000742)		2289					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.6867C>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	6.199	0.404960	0.11754	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.70399	-0.48;-0.48	5.1	5.1	0.69264	Pleckstrin homology-type (1);	0.099776	0.64402	D	0.000002	T	0.41026	0.1141	N	0.04686	-0.185	0.43426	D	0.99558	B;P	0.43750	0.078;0.816	B;B	0.34093	0.054;0.175	T	0.51172	-0.8739	10	0.07644	T	0.81	.	11.954	0.52970	0.0:0.9206:0.0:0.0794	.	2289;2289	O75962-5;O75962	.;TRIO_HUMAN	K	2289;2289;1976	ENSP00000339299:N2289K;ENSP00000446348:N2289K	ENSP00000339299:N2289K	N	+	3	2	TRIO	14540604	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.600000	0.46240	2.371000	0.80710	0.555000	0.69702	AAC		0.746	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		4	36	0	0	0	1	0	4	36					G	14487604	C	G	14487604	3	3	29	1	0	0	0	0	1	0	0	0	16567	506	18	5	7057	5	TRIO	5	14487604	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	13412080	14487604	166427656	20	2794										
HEATR7B2	133558	broad.mit.edu	37	chr5	40998212	40998212	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	gggtttgcaaagcagcctcaGctgctctctggacactaata	10	11	2	0			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:40998212G>C	ENST00000399564.4	-	42	5150	c.4700C>G	c.(4699-4701)gCt>gGt	p.A1567G	MROH2B_ENST00000506092.2_Missense_Mutation_p.A1122G	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1567																	AGCAGCCTCAGCTGCTCTCTG	0.468																																						ENST00000399564.4																			0											c.(4699-4701)gCt>gGt		maestro heat-like repeat family member 2B							189	179	182					5																	40998212		1919	4140	6059	SO:0001583	missense	133558							g.chr5:40998212G>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.4700C>G	5.37:g.40998212G>C	ENSP00000382476:p.Ala1567Gly		Somatic				MROH2B_ENST00000506092.2_Missense_Mutation_p.A1122G	p.A1567G	NM_173489.4	NP_775760.3	WXS	Illumina GAIIx	Phase_I					42	5150	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.4700C>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830636	0.71258	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.73789	-0.78;-0.78	4.66	4.66	0.58398	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.47852	D	0.000215	D	0.83589	0.5287	M	0.72118	2.19	0.44234	D	0.997076	D	0.64830	0.994	D	0.68039	0.955	D	0.85075	0.0942	10	0.72032	D	0.01	.	13.2229	0.59899	0.0:0.0:1.0:0.0	.	1567	Q7Z745	HTRB2_HUMAN	G	1122;1272;1567	ENSP00000441504:A1122G;ENSP00000382476:A1567G	ENSP00000296803:A1272G	A	-	2	0	HEATR7B2	41033969	0.991000	0.36638	0.968000	0.41197	0.834000	0.47266	4.177000	0.58276	2.587000	0.87381	0.655000	0.94253	GCT		0.468	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		35	224	0	0	0	1	0	35	224					C	40998212	G	C	40998212	3	2	29	1	0	0	0	0	1	0	0	0	7044	971	34	5	61	5	HEATR7B2	5	40998212	Missense_Mutation	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	26510608	40998212	139917048	21	2795										
SLCO4C1	353189	broad.mit.edu	37	chr5	101576467	101576467	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	tattcccaaggctagggaccGttgtctgtgattaacacacc	9	11	1	1	rs374536178		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:101576467G>T	ENST00000310954.6	-	11	2117	c.1831C>A	c.(1831-1833)Cgg>Agg	p.R611R		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCTAGGGACCGTTGTCTGTGA	0.338																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1831-1833)Cgg>Agg		solute carrier organic anion transporter family, member 4C1							131	140	137					5																	101576467		2203	4298	6501	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101576467G>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1831C>A	5.37:g.101576467G>T			Somatic					p.R611R	NM_180991.4	NP_851322.3	WXS	Illumina GAIIx	Phase_I	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	11	2117	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	611						Silent	SNP	ENST00000310954.6	37	c.1831C>A	CCDS34205.1																																																																																				0.338	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		26	30	1	0	2.61193e-14	1	3.07573e-14	26	30					T	101576467	G	T	101576467	2	4	29	1	0	0	0	0	0	0	0	1	14745	1144	40	5		5	SLCO4C1	5	101576467	Silent	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	60578255	101576467	79338793	22	2796										
SLC27A6	28965	broad.mit.edu	37	chr5	128362947	128362947	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	tttaagaagggagatgtttaCcttaatactggagacttaat	9	4	0	3			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:128362947C>G	ENST00000262462.4	+	7	2387	c.1377C>G	c.(1375-1377)taC>taG	p.Y459*	SLC27A6_ENST00000506176.1_Nonsense_Mutation_p.Y459*|SLC27A6_ENST00000395266.1_Nonsense_Mutation_p.Y459*			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	459					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAGATGTTTACCTTAATACTG	0.388																																						ENST00000262462.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(1375-1377)taC>taG		solute carrier family 27 (fatty acid transporter), member 6							130	122	125					5																	128362947		2203	4300	6503	SO:0001587	stop_gained	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.chr5:128362947C>G	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.1377C>G	5.37:g.128362947C>G	ENSP00000262462:p.Tyr459*		Somatic				SLC27A6_ENST00000395266.1_Nonsense_Mutation_p.Y459*|SLC27A6_ENST00000506176.1_Nonsense_Mutation_p.Y459*	p.Y459*			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	2387	+		all_cancers(142;0.0483)|Prostate(80;0.055)	459					Q6IAM5|Q7Z6E6|Q86YF6	Nonsense_Mutation	SNP	ENST00000262462.4	37	c.1377C>G	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	39	7.361020	0.98235	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	.	.	.	4.52	1.77	0.24775	.	0.057208	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.1616	2.8398	0.05525	0.1963:0.4044:0.0:0.3992	.	.	.	.	X	459	.	.	Y	+	3	2	SLC27A6	128390846	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	1.718000	0.38001	0.404000	0.25506	0.460000	0.39030	TAC		0.388	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031		21	60	0	0	0	1	0	21	60					G	128362947	C	G	128362947	4	3	29	1	0	0	0	0	0	1	0	0	14545	518	18	5	1403	5	SLC27A6	5	128362947	Nonsense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	26786480	128362947	52552313	23	2797										
CDYL	9425	broad.mit.edu	37	chr6	4892429	4892429	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	cctgagaaactggaccccgtCgagcagggtcaggaggacac	14	12	1	1	rs145508163		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:4892429C>T	ENST00000328908.5	+	4	800	c.669C>T	c.(667-669)gtC>gtT	p.V223V	CDYL_ENST00000472453.1_Intron|CDYL_ENST00000397588.3_Silent_p.V169V|CDYL_ENST00000449732.2_Silent_p.V37V|CDYL_ENST00000343762.5_Silent_p.V37V			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	223	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)		TGGACCCCGTCGAGCAGGGTC	0.617																																						ENST00000328908.5																			0				breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30						c.(667-669)gtC>gtT		chromodomain protein, Y-like		C	,,	0,4406		0,0,2203	46	52	50		111,111,507	-8.5	0	6	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CDYL	NM_001143970.1,NM_001143971.1,NM_004824.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	37/413,37/413,169/545	4892429	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4892429C>T	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"CDY-like, autosomal", "testis-specific chromodomain Y-like protein"	603778	"chromodomain protein, Y chromosome-like"			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.669C>T	6.37:g.4892429C>T			Somatic				CDYL_ENST00000343762.5_Silent_p.V37V|CDYL_ENST00000449732.2_Silent_p.V37V|CDYL_ENST00000397588.3_Silent_p.V169V|CDYL_ENST00000472453.1_Intron	p.V223V			WXS	Illumina GAIIx	Phase_I	Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	4	800	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	223					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	ENST00000328908.5	37	c.669C>T																																																																																					0.617	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		4	97	0	0	0	1	0	4	97					T	4892429	C	T	4892429	2	4	29	1	0	0	0	0	0	0	0	1	3187	871	31	1		1	CDYL	6	4892429	Silent	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08		4892429	166222638	24	2798										
KDM1B	221656	broad.mit.edu	37	chr6	18215312	18215312	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	aggaccctggatgacaaacaGgtgctgcagcagtgcatggc	14	10	0	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:18215312G>C	ENST00000297792.5	+	16	1665	c.1488G>C	c.(1486-1488)caG>caC	p.Q496H	KDM1B_ENST00000546309.2_Missense_Mutation_p.Q19H|KDM1B_ENST00000397244.1_Missense_Mutation_p.Q497H|KDM1B_ENST00000388870.2_Missense_Mutation_p.Q729H			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	728					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						ATGACAAACAGGTGCTGCAGC	0.577																																						ENST00000388870.2																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(2185-2187)caG>caC		lysine (K)-specific demethylase 1B							72	67	68					6																	18215312		2203	4300	6503	SO:0001583	missense	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18215312G>C	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1488G>C	6.37:g.18215312G>C	ENSP00000297792:p.Gln496His		Somatic				KDM1B_ENST00000397244.1_Missense_Mutation_p.Q497H|KDM1B_ENST00000546309.2_Missense_Mutation_p.Q19H|KDM1B_ENST00000297792.5_Missense_Mutation_p.Q496H	p.Q729H			WXS	Illumina GAIIx	Phase_I	Q8NB78	KDM1B_HUMAN			20	2428	+			728					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	c.2187G>C	CCDS34343.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.30|18.30	3.594665|3.594665	0.66219|0.66219	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000546309;ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869|ENST00000449850	D;D;D;D|.	0.92858|.	-3.12;-3.12;-3.12;-3.12|.	5.99|5.99	5.12|5.12	0.69794|0.69794	Amine oxidase (1);|.	0.110104|.	0.64402|.	D|.	0.000007|.	T|T	0.59473|0.59473	0.2196|0.2196	M|M	0.76838|0.76838	2.35|2.35	0.48341|0.48341	D|D	0.999636|0.999636	P;D;D|.	0.76494|.	0.953;0.973;0.999|.	P;P;D|.	0.71184|.	0.796;0.878;0.972|.	T|T	0.62973|0.62973	-0.6740|-0.6740	10|5	0.56958|.	D|.	0.05|.	-8.328|-8.328	8.1416|8.1416	0.31086|0.31086	0.2351:0.0:0.7649:0.0|0.2351:0.0:0.7649:0.0	.|.	545;728;496|.	A2A2C4;Q8NB78;A2A2C6|.	.;KDM1B_HUMAN;.|.	H|T	19;729;497;496;726|546	ENSP00000442670:Q19H;ENSP00000373522:Q729H;ENSP00000380419:Q497H;ENSP00000297792:Q496H|.	ENSP00000297792:Q496H|.	Q|R	+|+	3|2	2|0	KDM1B|KDM1B	18323291|18323291	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.908000|0.908000	0.53690|0.53690	2.383000|2.383000	0.44354|0.44354	2.844000|2.844000	0.97970|0.97970	0.650000|0.650000	0.86243|0.86243	CAG|AGG		0.577	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		7	56	0	0	0	1	0	7	56					C	18215312	G	C	18215312	3	2	29	1	0	0	0	0	1	0	0	0	8132	991	35	5	1542	5	KDM1B	6	18215312	Missense_Mutation	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	13322883	18215312	152899755	25	2799										
KIFC1	3833	broad.mit.edu	37	chr6	33371611	33371611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	tgcagaactaaaacggtgccGtgagaggactcaaacgttgg	13	8	1	2	rs146314962		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:33371611G>A	ENST00000428849.2	+	6	911	c.461G>A	c.(460-462)cGt>cAt	p.R154H	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	154					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						AAACGGTGCCGTGAGAGGACT	0.552																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(460-462)cGt>cAt		kinesin family member C1							102	98	99					6																	33371611		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.chr6:33371611G>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.461G>A	6.37:g.33371611G>A	ENSP00000393963:p.Arg154His		Somatic				KIFC1_ENST00000486695.1_3'UTR	p.R154H	NM_002263.3	NP_002254.2	WXS	Illumina GAIIx	Phase_I	Q9BW19	KIFC1_HUMAN			6	911	+			154					O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.461G>A	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792419	0.50102	.	.	ENSG00000237649	ENST00000428849;ENST00000450504	T	0.79247	-1.25	5.34	2.39	0.29439	.	0.254626	0.40818	N	0.001011	T	0.57932	0.2087	L	0.34521	1.04	0.31921	N	0.613471	D;D	0.65815	0.995;0.981	P;P	0.51135	0.66;0.66	T	0.57613	-0.7781	10	0.46703	T	0.11	0.2185	5.9511	0.19246	0.389:0.0:0.611:0.0	.	146;154	B4E063;Q9BW19	.;KIFC1_HUMAN	H	154;195	ENSP00000393963:R154H	ENSP00000393963:R154H	R	+	2	0	KIFC1	33479589	0.998000	0.40836	0.951000	0.38953	0.222000	0.24845	2.580000	0.46068	0.827000	0.34685	0.563000	0.77884	CGT		0.552	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		14	203	0	0	0	1	0	14	203					A	33371611	G	A	33371611	3	1	29	1	0	0	0	0	1	0	0	0	8321	1145	40	1	483	1	KIFC1	6	33371611	Missense_Mutation	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	15156299	33371611	137743456	26	2800										
HCRTR2	3062	broad.mit.edu	37	chr6	55113469	55113469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	tgtggaagaaccaccacatgAggacggtaaccaactacttc	9	11	0	2			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:55113469A>G	ENST00000370862.3	+	2	592	c.256A>G	c.(256-258)Agg>Ggg	p.R86G		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	86					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)			CCACCACATGAGGACGGTAAC	0.448																																						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.(256-258)Agg>Ggg		hypocretin (orexin) receptor 2							195	173	181					6																	55113469		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113469A>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.256A>G	6.37:g.55113469A>G	ENSP00000359899:p.Arg86Gly		Somatic					p.R86G	NM_001526.3	NP_001517.2	WXS	Illumina GAIIx	Phase_I	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	592	+	Lung NSC(77;0.107)|Renal(3;0.122)		86					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.256A>G	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.799130	0.70567	.	.	ENSG00000137252	ENST00000370862	T	0.45276	0.9	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.78311	-0.2253	10	0.87932	D	0	.	12.0126	0.53297	0.8455:0.1545:0.0:0.0	.	86;86	Q548Y0;O43614	.;OX2R_HUMAN	G	86	ENSP00000359899:R86G	ENSP00000359899:R86G	R	+	1	2	HCRTR2	55221428	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.150000	0.50662	1.992000	0.58205	0.528000	0.53228	AGG		0.448	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			17	125	0	0	0	1	0	17	125					G	55113469	A	G	55113469	3	3	29	1	0	0	0	0	1	0	0	0	7011	295	11	4	262	4	HCRTR2	6	55113469	Missense_Mutation	SNP	A	TCGA-N8-A4PO-01A-11D-A28R-08	21741858	55113469	116001598	27	2801										
PHF3	23469	broad.mit.edu	37	chr6	64394337	64394337	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	gatggattagattctaagcaTaagtgtaataatccgggaga	11	4	1	2			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:64394337T>C	ENST00000262043.3	+	4	1054	c.714T>C	c.(712-714)caT>caC	p.H238H	PHF3_ENST00000509330.1_Silent_p.H238H|PHF3_ENST00000393387.1_Silent_p.H238H			Q92576	PHF3_HUMAN	PHD finger protein 3	238					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)			ATTCTAAGCATAAGTGTAATA	0.348																																					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.(712-714)caT>caC		PHD finger protein 3							111	102	105					6																	64394337		2203	4300	6503	SO:0001819	synonymous_variant	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394337T>C	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.714T>C	6.37:g.64394337T>C			Somatic				PHF3_ENST00000509330.1_Silent_p.H238H|PHF3_ENST00000393387.1_Silent_p.H238H	p.H238H			WXS	Illumina GAIIx	Phase_I	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	1054	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		238					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	ENST00000262043.3	37	c.714T>C	CCDS4966.1																																																																																				0.348	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			4	122	0	0	0	1	0	4	122					C	64394337	T	C	64394337	2	2	29	1	0	0	0	0	0	0	0	1	11845	1403	49	4		4	PHF3	6	64394337	Silent	SNP	T	TCGA-N8-A4PO-01A-11D-A28R-08	9280868	64394337	106720730	28	2802										
LYRM2	57226	broad.mit.edu	37	chr6	90348404	90348404	+	Frame_Shift_Del	DEL	A	A	-													0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	ccggtacctgctttaacgttAgcgtcgctgggggtaagcgg							TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:90348404delA	ENST00000523377.1	-	1	68	c.32delT	c.(31-33)ctafs	p.L11fs	LYRM2_ENST00000520318.1_Frame_Shift_Del_p.L11fs|LYRM2_ENST00000520441.1_Frame_Shift_Del_p.L11fs|LYRM2_ENST00000517396.1_5'Flank	NM_020466.4	NP_065199.1	Q9NU23	LYRM2_HUMAN	LYR motif containing 2	11						mitochondrion (GO:0005739)				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0131)		CTTTAACGTTAGCGTCGCTGG	0.632																																						ENST00000523377.1																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(31-33)cafs		LYR motif containing 2							98	97	97					6																	90348404		2203	4300	6503	SO:0001589	frameshift_variant	57226							g.chr6:90348404delA	BC009782	CCDS5023.1	6q15	2006-09-19			ENSG00000083099	ENSG00000083099		"LYR motif containing"	25229	protein-coding gene	gene with protein product						12477932	Standard	NM_020466		Approved	DJ122O8.2	uc003pnm.3	Q9NU23	OTTHUMG00000015203	ENST00000523377.1:c.32delT	6.37:g.90348404delA	ENSP00000430025:p.Leu11fs		Somatic				LYRM2_ENST00000520441.1_Frame_Shift_Del_p.L11fs|LYRM2_ENST00000520318.1_Frame_Shift_Del_p.L11fs	p.L11fs	NM_020466.4	NP_065199.1	WXS	Illumina GAIIx	Phase_I	Q9NU23	LYRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0131)	1	68	-		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)	11					B2R4U2|E1P517	Frame_Shift_Del	DEL	ENST00000523377.1	37	c.32delT	CCDS5023.1																																																																																				0.632	LYRM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041498.2	NM_020466		11	404						11	404	---	---	---	---	-	90348404	A	-	90348404	7	5	29	1	0	1	0	1	0	0	0	0	9129	420	15	0	246	0	LYRM2	6	90348404	Frame_Shift_Del	DEL	A	TCGA-N8-A4PO-01A-11D-A28R-08	25954067	90348404	80766663	29	2803										
ULBP2	80328	broad.mit.edu	37	chr6	150267593	150267593	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	tggcagttcagtttcgatggGcagatcttcctcctctttga	10	10	3	2	rs532592146		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:150267593G>A	ENST00000367351.3	+	3	508	c.435G>A	c.(433-435)ggG>ggA	p.G145G		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	145	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GTTTCGATGGGCAGATCTTCC	0.507													N|||	1	0.000199681	0	0	5008	,	,		19815	0		0.001	False		,,,				2504	0					ENST00000367351.3																			0				breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10						c.(433-435)ggG>ggA		UL16 binding protein 2							245	221	229					6																	150267593		2203	4300	6503	SO:0001819	synonymous_variant	80328				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity	g.chr6:150267593G>A	AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.435G>A	6.37:g.150267593G>A			Somatic					p.G145G	NM_025217.2	NP_079493.1	WXS	Illumina GAIIx	Phase_I	Q9BZM5	N2DL2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	508	+		Ovarian(120;0.0907)	145			MHC class I alpha-2 like.		Q5VUN4	Silent	SNP	ENST00000367351.3	37	c.435G>A	CCDS5222.1																																																																																				0.507	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042669.1			105	123	0	0	0	1	0	105	123					A	150267593	G	A	150267593	2	1	29	1	0	0	0	0	0	0	0	1	16988	1190	42	3		3	ULBP2	6	150267593	Silent	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	59919189	150267593	20847474	30	2804										
ULBP2	80328	broad.mit.edu	37	chr6	150267643	150267643	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	gagaatgtggacaacggttcAtcctggagccagaaagatga	13	7	1	4			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:150267643A>C	ENST00000367351.3	+	3	558	c.485A>C	c.(484-486)cAt>cCt	p.H162P		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	162	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		ACAACGGTTCATCCTGGAGCC	0.473																																						ENST00000367351.3																			0				breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10						c.(484-486)cAt>cCt		UL16 binding protein 2							231	213	219					6																	150267643		2203	4300	6503	SO:0001583	missense	80328				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity	g.chr6:150267643A>C	AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.485A>C	6.37:g.150267643A>C	ENSP00000356320:p.His162Pro		Somatic					p.H162P	NM_025217.2	NP_079493.1	WXS	Illumina GAIIx	Phase_I	Q9BZM5	N2DL2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	558	+		Ovarian(120;0.0907)	162			MHC class I alpha-2 like.		Q5VUN4	Missense_Mutation	SNP	ENST00000367351.3	37	c.485A>C	CCDS5222.1	.	.	.	.	.	.	.	.	.	.	-	13.78	2.339123	0.41398	.	.	ENSG00000131015	ENST00000367351	T	0.06849	3.25	2.26	-3.71	0.04424	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	0.06188	0.0160	M	0.79258	2.445	0.09310	N	1	P;P	0.43662	0.684;0.814	P;P	0.51266	0.514;0.664	T	0.12400	-1.0549	9	0.66056	D	0.02	.	2.2935	0.04144	0.4008:0.0:0.1533:0.4459	.	162;162	B4DSS7;Q9BZM5	.;N2DL2_HUMAN	P	162	ENSP00000356320:H162P	ENSP00000356320:H162P	H	+	2	0	ULBP2	150309336	0.000000	0.05858	0.000000	0.03702	0.352000	0.29268	-1.125000	0.03257	-0.839000	0.04212	0.155000	0.16302	CAT		0.473	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042669.1			32	182	0	0	0	1	0	32	182					C	150267643	A	C	150267643	3	2	29	1	0	0	0	0	1	0	0	0	16988	217	8	4	495	4	ULBP2	6	150267643	Missense_Mutation	SNP	A	TCGA-N8-A4PO-01A-11D-A28R-08	50	150267643	20847424	31	2805										
MAP3K4	4216	broad.mit.edu	37	chr6	161529829	161529829	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	aggaaactgcagacgaattgAaaatattcgaaggcatcaaa	9	6	1	2			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:161529829A>C	ENST00000392142.4	+	22	4322	c.4174A>C	c.(4174-4176)Aaa>Caa	p.K1392Q	MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1342Q|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1338Q|MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1388Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1392	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)		AGACGAATTGAAAATATTCGA	0.408																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(4174-4176)Aaa>Caa		mitogen-activated protein kinase kinase kinase 4							165	160	162					6																	161529829		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.chr6:161529829A>C	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.4174A>C	6.37:g.161529829A>C	ENSP00000375986:p.Lys1392Gln		Somatic				MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1338Q|MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1342Q|MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1388Q	p.K1392Q	NM_005922.2	NP_005913.2	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	4322	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1392			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.4174A>C	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.895464	0.72639	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	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	0.40297	0.1111	L	0.37466	1.105	0.58432	D	0.999998	B;B;B;B	0.17268	0.021;0.004;0.007;0.02	B;B;B;B	0.27170	0.055;0.006;0.019;0.077	T	0.47995	-0.9073	10	0.56958	D	0.05	-14.6896	12.6724	0.56874	1.0:0.0:0.0:0.0	.	1388;328;1342;1392	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	Q	1342;1392;1342;1388;1338	ENSP00000355886:K1342Q;ENSP00000375986:K1392Q;ENSP00000355887:K1388Q;ENSP00000297332:K1338Q	ENSP00000297332:K1338Q	K	+	1	0	MAP3K4	161449819	1.000000	0.71417	0.774000	0.31636	0.753000	0.42808	9.245000	0.95431	1.800000	0.52685	0.528000	0.53228	AAA		0.408	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			82	77	0	0	0	1	0	82	77					C	161529829	A	C	161529829	3	2	29	1	0	0	0	0	1	0	0	0	9261	247	9	4	4260	4	MAP3K4	6	161529829	Missense_Mutation	SNP	A	TCGA-N8-A4PO-01A-11D-A28R-08	11262186	161529829	9585238	32	2806										
EEPD1	80820	broad.mit.edu	37	chr7	36194058	36194058	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	gaatcaggagcggctcaacaTcaacactgccacggaggagg	13	11	3	0			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr7:36194058T>G	ENST00000242108.4	+	2	843	c.125T>G	c.(124-126)aTc>aGc	p.I42S	EEPD1_ENST00000534978.1_Missense_Mutation_p.I42S	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	42	HhH.				DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CGGCTCAACATCAACACTGCC	0.597																																						ENST00000242108.4																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						c.(124-126)aTc>aGc		endonuclease/exonuclease/phosphatase family domain containing 1							119	117	117					7																	36194058		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36194058T>G	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.125T>G	7.37:g.36194058T>G	ENSP00000242108:p.Ile42Ser		Somatic				EEPD1_ENST00000534978.1_Missense_Mutation_p.I42S	p.I42S	NM_030636.2	NP_085139.2	WXS	Illumina GAIIx	Phase_I	Q7L9B9	EEPD1_HUMAN			2	843	+			42			HhH.		Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.125T>G	CCDS34619.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.194270	0.78902	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.35421	1.31;1.31	5.72	5.72	0.89469	RuvA domain 2-like (1);Competence protein ComEA, helix-hairpin-helix domain (1);	0.049142	0.85682	D	0.000000	T	0.65933	0.2739	M	0.92169	3.28	0.80722	D	1	D	0.58970	0.984	P	0.59288	0.855	T	0.75836	-0.3177	10	0.87932	D	0	-35.1937	15.9957	0.80237	0.0:0.0:0.0:1.0	.	42	Q7L9B9	EEPD1_HUMAN	S	42	ENSP00000242108:I42S;ENSP00000442692:I42S	ENSP00000242108:I42S	I	+	2	0	EEPD1	36160583	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.191000	0.72063	2.174000	0.68829	0.459000	0.35465	ATC		0.597	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		80	61	0	0	0	1	0	80	61					G	36194058	T	G	36194058	3	3	29	1	0	0	0	0	1	0	0	0	4934	1435	50	4	127	4	EEPD1	7	36194058	Missense_Mutation	SNP	T	TCGA-N8-A4PO-01A-11D-A28R-08		36194058	122944605	33	2807										
ZAN	7455	broad.mit.edu	37	chr7	100355878	100355878	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	gaacattgccgctgctggccCggcagtcgggtcgagtgcca	15	13	0	0			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr7:100355878C>T	ENST00000348028.3	+	0	3528				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGCTGGCCCGGCAGTCGGG	0.587																																						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)							35	39	38					7																	100355878		2070	4214	6284			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100355878C>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.100355878C>T			Somatic				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	WXS	Illumina GAIIx	Phase_I	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3511	+	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																																																																																						0.587	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		10	36	0	0	0	1	0	10	36					T	100355878	C	T	100355878	1	4	29	0	1	0	0	0	0	0	0	0	17528	639	23	1		1	ZAN	7	100355878	RNA	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	64161820	100355878	58782785	34	2808										
NCAPG2	54892	broad.mit.edu	37	chr7	158468184	158468184	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	cttaccttaaagacagaacaAcgaacatcagctgagctcgt	7	11	1	3			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr7:158468184A>G	ENST00000409423.1	-	13	1483	c.1311T>C	c.(1309-1311)cgT>cgC	p.R437R	NCAPG2_ENST00000356309.3_Silent_p.R437R|NCAPG2_ENST00000449727.2_Silent_p.R437R|NCAPG2_ENST00000409339.3_Silent_p.R437R|NCAPG2_ENST00000275830.10_Silent_p.R229R	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	437					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AGACAGAACAACGAACATCAG	0.348																																						ENST00000409339.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(1309-1311)cgT>cgC		non-SMC condensin II complex, subunit G2							54	50	51					7																	158468184		1841	4094	5935	SO:0001819	synonymous_variant	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158468184A>G	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.1311T>C	7.37:g.158468184A>G			Somatic				NCAPG2_ENST00000356309.3_Silent_p.R437R|NCAPG2_ENST00000449727.2_Silent_p.R437R|NCAPG2_ENST00000275830.10_Silent_p.R229R|NCAPG2_ENST00000409423.1_Silent_p.R437R	p.R437R			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)	12	1424	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	437					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	c.1311T>C	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	A	3.363	-0.130015	0.06753	.	.	ENSG00000146918	ENST00000441982	.	.	.	5.45	-1.12	0.09808	.	.	.	.	.	T	0.42517	0.1206	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27157	-1.0082	4	.	.	.	-17.8407	3.0199	0.06072	0.2433:0.222:0.4185:0.1161	.	.	.	.	A	239	.	.	V	-	2	0	NCAPG2	158160945	0.186000	0.23225	0.983000	0.44433	0.314000	0.28054	-0.491000	0.06474	-0.139000	0.11414	-0.297000	0.09499	GTT		0.348	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		12	22	0	0	0	1	0	12	22					G	158468184	A	G	158468184	2	3	29	1	0	0	0	0	0	0	0	1	10217	30	2	4		4	NCAPG2	7	158468184	Silent	SNP	A	TCGA-N8-A4PO-01A-11D-A28R-08	58112306	158468184	670479	35	2809										
CSMD1	64478	broad.mit.edu	37	chr8	3216672	3216672	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	atgaaagcgtgtgaccacctAcccacacaccttggcagagg	10	13	0	3			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:3216672A>C	ENST00000520002.1	-	22	3863		c.e22+1		CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000602723.1_Splice_Site|CSMD1_ENST00000400186.3_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000539096.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							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)		GTGACCACCTACCCACACACC	0.587																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.e22+1		CUB and Sushi multiple domains 1							65	67	66					8																	3216672		2203	4300	6503	SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:3216672A>C			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.3307+1T>G	8.37:g.3216672A>C			Somatic				CSMD1_ENST00000602723.1_Splice_Site|CSMD1_ENST00000539096.1_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000520002.1_Splice_Site|CSMD1_ENST00000400186.3_Splice_Site				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)	22	3863	-		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)						Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	ENST00000520002.1	37			.	.	.	.	.	.	.	.	.	.	a	25.5	4.647367	0.87958	.	.	ENSG00000183117	ENST00000335551;ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2175	0.73281	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD1	3204079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.088000	0.94132	1.986000	0.57962	0.449000	0.29647	.		0.587	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Intron	9	29	0	0	0	1	0	9	29					C	3216672	A	C	3216672	5	2	29	1	0	0	0	0	0	0	1	0	3946	405	14	4	7588	4	CSMD1	8	3216672	Splice_Site	SNP	A	TCGA-N8-A4PO-01A-11D-A28R-08		3216672	143147350	36	2810										
DDHD2	23259	broad.mit.edu	37	chr8	38095663	38095663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	gattggggttcaacacccacGgagcagggtcgaccaagaac	13	11	1	1	rs149994413	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:38095663G>A	ENST00000397166.2	+	5	1083	c.558G>A	c.(556-558)acG>acA	p.T186T	DDHD2_ENST00000520272.2_Silent_p.T186T	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	186			T -> M (in dbSNP:rs2306899). {ECO:0000269|PubMed:9872452}.		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)			CAACACCCACGGAGCAGGGTC	0.408																																						ENST00000397166.2																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(556-558)acG>acA		DDHD domain containing 2		G	,,	0,4406		0,0,2203	213	193	200		558,558,558	-10.3	0.2	8	dbSNP_134	200	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	DDHD2	NM_001164232.1,NM_001164234.1,NM_015214.2	,,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,,	186/712,186/228,186/712	38095663	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38095663G>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.558G>A	8.37:g.38095663G>A			Somatic				DDHD2_ENST00000520272.2_Silent_p.T186T	p.T186T	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)		5	1083	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	186		T -> M (in dbSNP:rs2306899).			B3KWV2|B3KXB5|Q9H8X7	Silent	SNP	ENST00000397166.2	37	c.558G>A	CCDS34883.1																																																																																				0.408	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		20	7	0	0	0	1	0	20	7					A	38095663	G	A	38095663	2	1	29	1	0	0	0	0	0	0	0	1	4329	1103	39	1		1	DDHD2	8	38095663	Silent	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	34878991	38095663	108268359	37	2811										
PCMTD1	115294	broad.mit.edu	37	chr8	52773451	52773451	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	aaatatccggttccacttccCaggttaagaaaagacaatcc	6	11	0	2			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:52773451C>A	ENST00000360540.5	-	3	667	c.261G>T	c.(259-261)ctG>ctT	p.L87L	PCMTD1_ENST00000521344.1_Silent_p.L87L|PCMTD1_ENST00000522514.1_Silent_p.L87L|PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000519559.1_Intron	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	87						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTCCACTTCCCAGGTTAAGAA	0.333																																						ENST00000360540.5																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(259-261)ctG>ctT		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1							82	78	79					8																	52773451		2203	4300	6503	SO:0001819	synonymous_variant	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52773451C>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.261G>T	8.37:g.52773451C>A			Somatic				PCMTD1_ENST00000521344.1_Silent_p.L87L|PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000519559.1_Intron|PCMTD1_ENST00000522514.1_Silent_p.L87L	p.L87L	NM_052937.2	NP_443169.2	WXS	Illumina GAIIx	Phase_I	Q96MG8	PCMD1_HUMAN			3	667	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	87					Q96FK9	Silent	SNP	ENST00000360540.5	37	c.261G>T	CCDS6148.1																																																																																				0.333	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		28	84	1	0	4.74835e-14	1	5.48892e-14	28	84					A	52773451	C	A	52773451	2	1	29	1	0	0	0	0	0	0	0	1	11595	581	21	5		5	PCMTD1	8	52773451	Silent	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	14677788	52773451	93590571	38	2812										
ARMC1	55156	broad.mit.edu	37	chr8	66525567	66525567	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	attgagctttccttcgacgtGaattcatctcattaaaacta	5	9	2	2			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:66525567G>T	ENST00000276569.3	-	4	621	c.377C>A	c.(376-378)tCa>tAa	p.S126*	ARMC1_ENST00000458464.2_Intron|ARMC1_ENST00000523384.1_5'Flank	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	126					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			CCTTCGACGTGAATTCATCTC	0.398																																						ENST00000276569.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14						c.(376-378)tCa>tAa		armadillo repeat containing 1							150	140	143					8																	66525567		2203	4300	6503	SO:0001587	stop_gained	55156				metal ion transport		metal ion binding	g.chr8:66525567G>T	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"Armadillo repeat containing"	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.377C>A	8.37:g.66525567G>T	ENSP00000276569:p.Ser126*		Somatic				ARMC1_ENST00000458464.2_Intron	p.S126*	NM_018120.4	NP_060590.1	WXS	Illumina GAIIx	Phase_I	Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		4	621	-			126					B4E2W7|Q9H018|Q9H820	Nonsense_Mutation	SNP	ENST00000276569.3	37	c.377C>A	CCDS6181.1	.	.	.	.	.	.	.	.	.	.	G	38	6.922103	0.97936	.	.	ENSG00000104442	ENST00000276569;ENST00000518908	.	.	.	6.02	6.02	0.97574	.	0.052578	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1533	0.81636	0.0:0.0:0.8588:0.1412	.	.	.	.	X	126	.	ENSP00000276569:S126X	S	-	2	0	ARMC1	66688121	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.210000	0.77924	2.865000	0.98341	0.655000	0.94253	TCA		0.398	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		27	100	1	0	4.7796e-09	1	5.37705e-09	27	100					T	66525567	G	T	66525567	4	4	29	1	0	0	0	0	0	1	0	0	949	1294	45	2	487	2	ARMC1	8	66525567	Nonsense_Mutation	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	13752116	66525567	79838455	39	2813										
CPA6	57094	broad.mit.edu	37	chr8	68397009	68397009	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	tctcatggctgggtcactctTatatgttagaagagcctaaa	9	8	3	2			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:68397009T>G	ENST00000297770.4	-	7	867	c.652A>C	c.(652-654)Aag>Cag	p.K218Q	CPA6_ENST00000518549.1_Missense_Mutation_p.K218Q|CPA6_ENST00000297769.4_Missense_Mutation_p.K70Q	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	218						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GGGTCACTCTTATATGTTAGA	0.353																																						ENST00000297770.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26						c.(652-654)Aag>Cag		carboxypeptidase A6							80	71	74					8																	68397009		2203	4300	6503	SO:0001583	missense	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68397009T>G	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.652A>C	8.37:g.68397009T>G	ENSP00000297770:p.Lys218Gln		Somatic				CPA6_ENST00000518549.1_Missense_Mutation_p.K218Q|CPA6_ENST00000297769.4_Missense_Mutation_p.K70Q	p.K218Q	NM_020361.4	NP_065094.3	WXS	Illumina GAIIx	Phase_I	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		7	867	-			218					Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	c.652A>C	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.483405	0.26598	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	T;T;T	0.30714	1.52;1.52;3.91	5.25	1.45	0.22620	Peptidase M14, carboxypeptidase A (2);	0.176985	0.50627	D	0.000101	T	0.19087	0.0458	N	0.20401	0.57	0.24052	N	0.99605	B;B;B	0.13594	0.005;0.008;0.001	B;B;B	0.10450	0.005;0.004;0.002	T	0.18745	-1.0327	10	0.35671	T	0.21	.	12.5306	0.56113	0.0:0.0:0.6542:0.3458	.	218;70;218	Q8N4T0-2;Q8N4T0-3;Q8N4T0	.;.;CBPA6_HUMAN	Q	70;218;218	ENSP00000297769:K70Q;ENSP00000297770:K218Q;ENSP00000431112:K218Q	ENSP00000297769:K70Q	K	-	1	0	CPA6	68559563	1.000000	0.71417	0.326000	0.25389	0.650000	0.38633	2.212000	0.42835	0.388000	0.25054	-0.332000	0.08345	AAG		0.353	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		7	87	0	0	0	1	0	7	87					G	68397009	T	G	68397009	3	3	29	1	0	0	0	0	1	0	0	0	3796	1763	61	4	681	4	CPA6	8	68397009	Missense_Mutation	SNP	T	TCGA-N8-A4PO-01A-11D-A28R-08	1871442	68397009	77967013	40	2814										
SLC10A5	347051	broad.mit.edu	37	chr8	82606605	82606605	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	ccaaaagcttgcgcctcaggCaatgccacaatctgagacaa	8	13	2	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:82606605C>G	ENST00000518568.1	-	1	1804	c.603G>C	c.(601-603)ttG>ttC	p.L201F		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	201						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GCGCCTCAGGCAATGCCACAA	0.478																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(601-603)ttG>ttC		solute carrier family 10, member 5							81	87	85					8																	82606605		2203	4300	6503	SO:0001583	missense	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606605C>G		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"Solute carriers"	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.603G>C	8.37:g.82606605C>G	ENSP00000428612:p.Leu201Phe		Somatic					p.L201F	NM_001010893.2	NP_001010893.1	WXS	Illumina GAIIx	Phase_I	Q5PT55	NTCP5_HUMAN			1	1804	-			201					B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	c.603G>C	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102842	0.37145	.	.	ENSG00000253598	ENST00000518568	T	0.13657	2.57	6.1	1.88	0.25563	.	0.000000	0.43416	D	0.000561	T	0.30510	0.0767	M	0.79258	2.445	0.32190	N	0.579214	D	0.89917	1.0	D	0.91635	0.999	T	0.31110	-0.9955	10	0.66056	D	0.02	-13.8705	4.1417	0.10196	0.0:0.4339:0.168:0.3981	.	201	Q5PT55	NTCP5_HUMAN	F	201	ENSP00000428612:L201F	ENSP00000428612:L201F	L	-	3	2	SLC10A5	82769160	1.000000	0.71417	0.381000	0.26106	0.223000	0.24884	0.896000	0.28377	0.476000	0.27440	-0.145000	0.13849	TTG		0.478	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		10	301	0	0	0	1	0	10	301					G	82606605	C	G	82606605	3	3	29	1	0	0	0	0	1	0	0	0	14392	709	25	5	715	5	SLC10A5	8	82606605	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	14209596	82606605	63757417	41	2815										
CCNE2	9134	broad.mit.edu	37	chr8	95900250	95900250	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	caacataaatctatcaaaaaAgtcttgtgcaagataaaatg	5	6	3	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:95900250A>T	ENST00000520509.1	-	7	757	c.505T>A	c.(505-507)Ttt>Att	p.F169I	CCNE2_ENST00000396133.3_Missense_Mutation_p.F169I|RP11-347C18.5_ENST00000605911.1_RNA|CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000308108.4_Missense_Mutation_p.F169I			O96020	CCNE2_HUMAN	cyclin E2	169					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)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CTATCAAAAAAGTCTTGTGCA	0.294																																						ENST00000520509.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11						c.(505-507)Ttt>Att		cyclin E2							62	67	65					8																	95900250		2200	4271	6471	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.chr8:95900250A>T	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.505T>A	8.37:g.95900250A>T	ENSP00000429089:p.Phe169Ile		Somatic				CCNE2_ENST00000308108.4_Missense_Mutation_p.F169I|CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000396133.3_Missense_Mutation_p.F169I	p.F169I			WXS	Illumina GAIIx	Phase_I	O96020	CCNE2_HUMAN			7	757	-	Breast(36;8.75e-07)		169					O95439	Missense_Mutation	SNP	ENST00000520509.1	37	c.505T>A	CCDS6264.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.554609	0.86231	.	.	ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133	T;T;T	0.10005	2.92;2.92;2.92	5.89	5.89	0.94794	Cyclin, N-terminal (2);Cyclin-like (3);	0.092655	0.85682	D	0.000000	T	0.07863	0.0197	N	0.11341	0.13	0.58432	D	0.999997	P;P	0.47841	0.901;0.816	P;B	0.46389	0.515;0.255	T	0.14008	-1.0488	10	0.02654	T	1	.	16.3158	0.82923	1.0:0.0:0.0:0.0	.	169;169	Q8WUE3;O96020	.;CCNE2_HUMAN	I	169;169;61;169	ENSP00000429089:F169I;ENSP00000309181:F169I;ENSP00000379437:F169I	ENSP00000309181:F169I	F	-	1	0	CCNE2	95969426	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.265000	0.78442	2.254000	0.74563	0.533000	0.62120	TTT		0.294	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		58	21	0	0	0	1	0	58	21					T	95900250	A	T	95900250	3	4	29	1	0	0	0	0	1	0	0	0	2923	72	3	4	733	4	CCNE2	8	95900250	Missense_Mutation	SNP	A	TCGA-N8-A4PO-01A-11D-A28R-08	13293645	95900250	50463772	42	2816										
PTP4A3	11156	broad.mit.edu	37	chr8	142432356	142432356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	gcgccatggctcggatgaacCgcccggccccggtggaggtg	17	14	0	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:142432356C>T	ENST00000521578.1	+	2	961	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	PTP4A3_ENST00000520105.1_Missense_Mutation_p.R6C|PTP4A3_ENST00000329397.1_Missense_Mutation_p.R6C|PTP4A3_ENST00000524028.1_Missense_Mutation_p.R6C|PTP4A3_ENST00000349124.1_Missense_Mutation_p.R6C			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	6					peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			TCGGATGAACCGCCCGGCCCC	0.642																																						ENST00000520105.1																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(16-18)Cgc>Tgc		protein tyrosine phosphatase type IVA, member 3							72	74	73					8																	142432356		2202	4300	6502	SO:0001583	missense	11156					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:142432356C>T	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365		ENST00000521578.1:c.16C>T	8.37:g.142432356C>T	ENSP00000428976:p.Arg6Cys		Somatic				PTP4A3_ENST00000524028.1_Missense_Mutation_p.R6C|PTP4A3_ENST00000349124.1_Missense_Mutation_p.R6C|PTP4A3_ENST00000329397.1_Missense_Mutation_p.R6C|PTP4A3_ENST00000521578.1_Missense_Mutation_p.R6C	p.R6C			WXS	Illumina GAIIx	Phase_I	O75365	TP4A3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0474)		2	959	+	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		6					Q8IVN5|Q99849|Q9BTW5	Missense_Mutation	SNP	ENST00000521578.1	37	c.16C>T	CCDS6383.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165876	0.78339	.	.	ENSG00000184489	ENST00000521578;ENST00000520105;ENST00000523147;ENST00000329397;ENST00000349124;ENST00000524028	D;T;D;T	0.95518	-3.73;0.77;-3.73;0.77	4.89	4.89	0.63831	.	0.059882	0.64402	D	0.000002	D	0.96204	0.8762	L	0.60067	1.865	0.80722	D	1	D;B	0.76494	0.999;0.037	P;B	0.56700	0.804;0.038	D	0.96466	0.9345	10	0.59425	D	0.04	-61.103	16.6165	0.84917	0.0:1.0:0.0:0.0	.	6;6	O75365-2;O75365	.;TP4A3_HUMAN	C	6	ENSP00000428976:R6C;ENSP00000428758:R6C;ENSP00000332274:R6C;ENSP00000331730:R6C	ENSP00000332274:R6C	R	+	1	0	PTP4A3	142501538	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	2.886000	0.48578	2.268000	0.75426	0.491000	0.48974	CGC		0.642	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1	NM_032611		32	186	0	0	0	1	0	32	186					T	142432356	C	T	142432356	3	4	29	1	0	0	0	0	1	0	0	0	12785	652	23	1	18	1	PTP4A3	8	142432356	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	46532106	142432356	3931666	43	2817										
TRPM6	140803	broad.mit.edu	37	chr9	77415320	77415320	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	ctccagttcctgagttcataCgtcaacagcgtcatggccat	8	13	3	1	rs201934592		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:77415320C>G	ENST00000360774.1	-	17	2325	c.2088G>C	c.(2086-2088)acG>acC	p.T696T	TRPM6_ENST00000361255.3_Silent_p.T691T|TRPM6_ENST00000449912.2_Silent_p.T691T|TRPM6_ENST00000451710.3_Silent_p.T696T|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.T696T|TRPM6_ENST00000376872.3_Intron|RN7SKP47_ENST00000365347.1_RNA	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	696					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						TGAGTTCATACGTCAACAGCG	0.512																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(2086-2088)acG>acC		transient receptor potential cation channel, subfamily M, member 6							133	108	117					9																	77415320		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.chr9:77415320C>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.2088G>C	9.37:g.77415320C>G			Somatic				TRPM6_ENST00000361255.3_Silent_p.T691T|TRPM6_ENST00000360774.1_Silent_p.T696T|TRPM6_ENST00000449912.2_Silent_p.T691T|TRPM6_ENST00000376864.4_Silent_p.T696T|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron	p.T696T			WXS	Illumina GAIIx	Phase_I	Q9BX84	TRPM6_HUMAN			17	2325	-			696					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.2088G>C	CCDS6647.1																																																																																				0.512	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		12	34	0	0	0	1	0	12	34					G	77415320	C	G	77415320	2	3	29	1	0	0	0	0	0	0	0	1	16605	523	19	5		5	TRPM6	9	77415320	Silent	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08		77415320	63798111	44	2818										
TRIM14	9830	broad.mit.edu	37	chr9	100862412	100862412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	atctgagttcagtgaatttcCccttcagccaggttttactt	7	10	3	2			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:100862412C>T	ENST00000341469.2	-	3	347	c.338G>A	c.(337-339)gGg>gAg	p.G113E	TRIM14_ENST00000375098.3_Missense_Mutation_p.G113E|TRIM14_ENST00000342043.3_Missense_Mutation_p.G113E	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	113					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AGTGAATTTCCCCTTCAGCCA	0.428																																					Colon(14;460 597 13826 51781)	ENST00000341469.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9						c.(337-339)gGg>gAg		tripartite motif containing 14							107	100	102					9																	100862412		2203	4300	6503	SO:0001583	missense	9830					cytoplasm|intracellular	zinc ion binding	g.chr9:100862412C>T	AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"Tripartite motif containing / Tripartite motif containing"	16283	protein-coding gene	gene with protein product		606556	"tripartite motif-containing 14"			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.338G>A	9.37:g.100862412C>T	ENSP00000344208:p.Gly113Glu		Somatic				TRIM14_ENST00000342043.3_Missense_Mutation_p.G113E|TRIM14_ENST00000375098.3_Missense_Mutation_p.G113E	p.G113E	NM_014788.2	NP_055603.2	WXS	Illumina GAIIx	Phase_I	Q14142	TRI14_HUMAN			3	347	-		Acute lymphoblastic leukemia(62;0.0559)	113					A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Missense_Mutation	SNP	ENST00000341469.2	37	c.338G>A	CCDS6734.1	.	.	.	.	.	.	.	.	.	.	C	4.587	0.109138	0.08780	.	.	ENSG00000106785	ENST00000375098;ENST00000341469;ENST00000342043;ENST00000375084;ENST00000375092	T;T;T	0.54279	0.58;0.58;0.58	5.25	-1.76	0.08006	.	0.539399	0.17846	N	0.160036	T	0.30135	0.0755	L	0.35723	1.085	0.09310	N	0.999995	B;B;B	0.18461	0.004;0.007;0.028	B;B;B	0.19148	0.011;0.008;0.024	T	0.30966	-0.9960	10	0.06365	T	0.9	.	5.0218	0.14365	0.1395:0.3743:0.0:0.4863	.	113;113;113	Q14142-2;Q548W9;Q14142	.;.;TRI14_HUMAN	E	113	ENSP00000364239:G113E;ENSP00000344208:G113E;ENSP00000343990:G113E	ENSP00000344208:G113E	G	-	2	0	TRIM14	99902233	0.000000	0.05858	0.003000	0.11579	0.547000	0.35210	-0.810000	0.04505	-0.546000	0.06216	-0.136000	0.14681	GGG		0.428	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1	NM_014788		14	20	0	0	0	1	0	14	20					T	100862412	C	T	100862412	3	4	29	1	0	0	0	0	1	0	0	0	16504	623	22	3	1006	3	TRIM14	9	100862412	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	23447092	100862412	40351019	45	2819										
NR4A3	8013	broad.mit.edu	37	chr9	102595040	102595040	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	gcccagtagacaagagacgtCgaaaccgatgtcagtactgt	11	10	1	2			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:102595040C>T	ENST00000395097.2	+	4	1750	c.1021C>T	c.(1021-1023)Cga>Tga	p.R341*	NR4A3_ENST00000330847.1_Nonsense_Mutation_p.R352*|NR4A3_ENST00000338488.4_Nonsense_Mutation_p.R341*	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	341					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)				CAAGAGACGTCGAAACCGATG	0.368			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.(1054-1056)Cga>Tga		nuclear receptor subfamily 4, group A, member 3							131	125	127					9																	102595040		2203	4300	6503	SO:0001587	stop_gained	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102595040C>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.1021C>T	9.37:g.102595040C>T	ENSP00000378531:p.Arg341*		Somatic				NR4A3_ENST00000395097.2_Nonsense_Mutation_p.R341*|NR4A3_ENST00000338488.4_Nonsense_Mutation_p.R341*	p.R352*			WXS	Illumina GAIIx	Phase_I	Q92570	NR4A3_HUMAN			3	1098	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	341					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Nonsense_Mutation	SNP	ENST00000395097.2	37	c.1054C>T	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871283	0.91587	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000395096;ENST00000330847	.	.	.	5.6	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8375	0.63419	0.2786:0.7214:0.0:0.0	.	.	.	.	X	341;341;165;352	.	ENSP00000333122:R352X	R	+	1	2	NR4A3	101634861	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.910000	0.48766	1.477000	0.48234	-0.188000	0.12872	CGA		0.368	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			44	5	0	0	0	1	0	44	5					T	102595040	C	T	102595040	4	4	29	1	0	0	0	0	0	1	0	0	10643	876	31	1	1064	1	NR4A3	9	102595040	Nonsense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	1732628	102595040	38618391	46	2820										
SMC2	10592	broad.mit.edu	37	chr9	106874060	106874060	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	gtcaaatgatggcctgtaaaAatgatataagtaaagctcag	9	5	2	2			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:106874060A>G	ENST00000286398.7	+	10	1507	c.1219A>G	c.(1219-1221)Aat>Gat	p.N407D	SMC2_ENST00000374793.3_Missense_Mutation_p.N407D|SMC2_ENST00000374787.3_Missense_Mutation_p.N407D|SMC2_ENST00000303219.8_Missense_Mutation_p.N407D	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	407					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						GGCCTGTAAAAATGATATAAG	0.418																																						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.(1219-1221)Aat>Gat		structural maintenance of chromosomes 2							73	74	74					9																	106874060		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.chr9:106874060A>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.1219A>G	9.37:g.106874060A>G	ENSP00000286398:p.Asn407Asp		Somatic				SMC2_ENST00000374793.3_Missense_Mutation_p.N407D|SMC2_ENST00000374787.3_Missense_Mutation_p.N407D|SMC2_ENST00000303219.8_Missense_Mutation_p.N407D	p.N407D	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			10	1507	+			407					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.1219A>G	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.585095	0.66105	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.80123	-1.23;-1.23;-1.34;-1.23	5.65	5.65	0.86999	RecF/RecN/SMC (1);	0.086125	0.85682	D	0.000000	T	0.77778	0.4181	L	0.51914	1.62	0.46149	D	0.99889	P;P;P	0.42010	0.514;0.664;0.768	B;B;B	0.41988	0.326;0.326;0.372	T	0.76979	-0.2758	10	0.33940	T	0.23	-23.3256	14.7251	0.69339	1.0:0.0:0.0:0.0	.	407;407;407	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	D	407	ENSP00000286398:N407D;ENSP00000363925:N407D;ENSP00000306152:N407D;ENSP00000363919:N407D	ENSP00000286398:N407D	N	+	1	0	SMC2	105913881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.130000	0.77235	2.158000	0.67659	0.528000	0.53228	AAT		0.418	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			25	1	0	0	0	1	0	25	1					G	106874060	A	G	106874060	3	3	29	1	0	0	0	0	1	0	0	0	14798	14	1	4	1253	4	SMC2	9	106874060	Missense_Mutation	SNP	A	TCGA-N8-A4PO-01A-11D-A28R-08	4279020	106874060	34339371	47	2821										
HSPA5	3309	broad.mit.edu	37	chr9	128003021	128003021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	cacgtgcggccgatgagccgCttggcgtcaaagaccgtgtt	14	12	1	2			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:128003021C>T	ENST00000324460.6	-	2	491	c.288G>A	c.(286-288)aaG>aaA	p.K96K	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	96					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)	CGATGAGCCGCTTGGCGTCAA	0.567										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.(286-288)aaG>aaA		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)						108	110	109					9																	128003021		2203	4300	6503	SO:0001819	synonymous_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.chr9:128003021C>T		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.288G>A	9.37:g.128003021C>T		Prostate(1;0.17)	Somatic					p.K96K	NM_005347.4	NP_005338.1	WXS	Illumina GAIIx	Phase_I	P11021	GRP78_HUMAN			2	491	-			96					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Silent	SNP	ENST00000324460.6	37	c.288G>A	CCDS6863.1																																																																																				0.567	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			34	63	0	0	0	1	0	34	63					T	128003021	C	T	128003021	2	4	29	1	0	0	0	0	0	0	0	1	7423	796	28	3		3	HSPA5	9	128003021	Silent	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	21128961	128003021	13210410	48	2822										
DNAJB12	54788	broad.mit.edu	37	chr10	74096299	74096299	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	cactctgctgcttctccttcCagcagttgttccggaggttg	10	13	2	0			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:74096299C>T	ENST00000444643.2	-	7	1321	c.989G>A	c.(988-990)tGg>tAg	p.W330*	DNAJB12_ENST00000394903.2_Nonsense_Mutation_p.W364*|DNAJB12_ENST00000461919.1_Nonsense_Mutation_p.W125*|DNAJB12_ENST00000338820.3_Nonsense_Mutation_p.W364*			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	330						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						CTTCTCCTTCCAGCAGTTGTT	0.562																																						ENST00000338820.3																			0				endometrium(1)|large_intestine(2)|skin(1)	4						c.(1090-1092)tGg>tAg		DnaJ (Hsp40) homolog, subfamily B, member 12							141	130	134					10																	74096299		2203	4300	6503	SO:0001587	stop_gained	54788				protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr10:74096299C>T	AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"Heat shock proteins / DNAJ (HSP40)"	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.989G>A	10.37:g.74096299C>T	ENSP00000403313:p.Trp330*		Somatic				DNAJB12_ENST00000444643.2_Nonsense_Mutation_p.W330*|DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000394903.2_Nonsense_Mutation_p.W364*	p.W364*	NM_001002762.2	NP_001002762.2	WXS	Illumina GAIIx	Phase_I	Q9NXW2	DJB12_HUMAN			7	1240	-			330					B7Z7I3|Q9H6H0	Nonsense_Mutation	SNP	ENST00000444643.2	37	c.1091G>A		.	.	.	.	.	.	.	.	.	.	C	39	7.493958	0.98319	.	.	ENSG00000148719	ENST00000338820;ENST00000394903;ENST00000444643	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.3754	20.3214	0.98679	0.0:1.0:0.0:0.0	.	.	.	.	X	364;364;330	.	ENSP00000345575:W364X	W	-	2	0	DNAJB12	73766305	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.804000	0.96469	0.655000	0.94253	TGG		0.562	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048581.2			43	101	0	0	0	1	0	43	101					T	74096299	C	T	74096299	4	4	29	1	0	0	0	0	0	1	0	0	4619	595	21	3	146	3	DNAJB12	10	74096299	Nonsense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08		74096299	61438448	49	2823										
KCNMA1	3778	broad.mit.edu	37	chr10	78709043	78709043	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	catcaccaggttccggaggcCgatcagggctgagctgacgt	14	12	2	2			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:78709043C>A	ENST00000286628.8	-	22	2565	c.2566G>T	c.(2566-2568)Ggc>Tgc	p.G856C	KCNMA1_ENST00000404857.1_Missense_Mutation_p.G839C|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G798C|KCNMA1_ENST00000286627.5_Missense_Mutation_p.G798C|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G856C|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G860C|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G798C|RP11-443A13.5_ENST00000608791.1_RNA|RP11-443A13.5_ENST00000598613.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G859C|RP11-443A13.5_ENST00000600782.1_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	856	Segment S9.				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)			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)	TTCCGGAGGCCGATCAGGGCT	0.557																																						ENST00000286627.5																			0				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.(2392-2394)Ggc>Tgc		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)						78	71	73					10																	78709043		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.chr10:78709043C>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.2566G>T	10.37:g.78709043C>A	ENSP00000286628:p.Gly856Cys		Somatic				KCNMA1_ENST00000406533.3_Missense_Mutation_p.G860C|KCNMA1_ENST00000286628.8_Missense_Mutation_p.G856C|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G798C|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G856C|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G798C|KCNMA1_ENST00000404857.1_Missense_Mutation_p.G839C|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G859C	p.G798C	NM_002247.3	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)		21	3344	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		856					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.2392G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.143714|5.143714	0.94603|0.94603	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208	T;T;T;T;T;T;T;T;T|.	0.54675|.	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56|.	5.63|5.63	5.63|5.63	0.86233|0.86233	NAD(P)-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81451|0.81451	0.4825|0.4825	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	T|T	0.80564|0.80564	-0.1326|-0.1326	10|5	0.87932|.	D|.	0|.	-12.8217|-12.8217	20.0442|20.0442	0.97604|0.97604	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	827;801;839;856;798;609;859;798|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	C|L	798;735;791;830;793;798;798;830;860;859;839;609|786;505	ENSP00000361517:G798C;ENSP00000361485:G735C;ENSP00000361514:G791C;ENSP00000396608:G830C;ENSP00000361520:G798C;ENSP00000286627:G798C;ENSP00000385552:G860C;ENSP00000346321:G859C;ENSP00000385806:G839C|.	ENSP00000286627:G798C|.	G|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78379049|78379049	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.776000|7.776000	0.85560|0.85560	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.557	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		7	78	1	0	8.12818e-05	1	8.98378e-05	7	78					A	78709043	C	A	78709043	3	1	29	1	0	0	0	0	1	0	0	0	8082	652	23	5	1201	5	KCNMA1	10	78709043	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	4612744	78709043	56825704	50	2824										
SLC18A2	6571	broad.mit.edu	37	chr10	119027213	119027213	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	gcaaaaaacatttatggactCatagctccgaactttggagt	8	8	1	0			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:119027213C>A	ENST00000298472.5	+	13	1295	c.1152C>A	c.(1150-1152)ctC>ctA	p.L384L	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	384					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)	TTTATGGACTCATAGCTCCGA	0.373																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(1150-1152)ctC>ctA		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						96	91	92					10																	119027213		2203	4300	6503	SO:0001819	synonymous_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119027213C>A	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.1152C>A	10.37:g.119027213C>A			Somatic				SLC18A2_ENST00000497497.1_3'UTR	p.L384L	NM_003054.4	NP_003045.2	WXS	Illumina GAIIx	Phase_I	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	13	1295	+		Colorectal(252;0.19)	384					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	c.1152C>A	CCDS7599.1																																																																																				0.373	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		3	10	1	0	1	1	1	3	10					A	119027213	C	A	119027213	2	1	29	1	0	0	0	0	0	0	0	1	14441	813	29	2		2	SLC18A2	10	119027213	Silent	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	40318170	119027213	16507534	51	2825										
CDHR5	53841	broad.mit.edu	37	chr11	617618	617618	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	gctgcggggggctcaggggcAccgcctggggaggcagggcc	22	12	1	0			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:617618A>G	ENST00000358353.3	-	16	2593	c.2271T>C	c.(2269-2271)ggT>ggC	p.G757G	IRF7_ENST00000397562.3_5'Flank|IRF7_ENST00000348655.6_5'Flank|IRF7_ENST00000397566.1_5'Flank|IRF7_ENST00000525445.1_5'Flank|IRF7_ENST00000397570.1_5'Flank|CDHR5_ENST00000397542.2_Silent_p.G757G|CDHR5_ENST00000349570.7_Silent_p.G563G|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000330243.5_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	757					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GCTCAGGGGCACCGCCTGGGG	0.776																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(2269-2271)ggT>ggC		cadherin-related family member 5							5	7	6					11																	617618		2035	4054	6089	SO:0001819	synonymous_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:617618A>G	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.2271T>C	11.37:g.617618A>G			Somatic				CDHR5_ENST00000397542.2_Silent_p.G757G|CDHR5_ENST00000349570.7_Silent_p.G563G	p.G757G			WXS	Illumina GAIIx	Phase_I	Q9HBB8	CDHR5_HUMAN			16	2593	-			757					C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	c.2271T>C	CCDS7707.1																																																																																				0.776	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		3	18	0	0	0	1	0	3	18					G	617618	A	G	617618	2	3	29	1	0	0	0	0	0	0	0	1	3124	146	6	4		4	CDHR5	11	617618	Silent	SNP	A	TCGA-N8-A4PO-01A-11D-A28R-08		617618	134388898	52	2826										
OR4A47	403253	broad.mit.edu	37	chr11	48511046	48511046	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	cagaaagggaggcaaaaagcCctctcaacctgcagttccca	9	13	1	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:48511046C>A	ENST00000446524.1	+	1	778	c.702C>A	c.(700-702)gcC>gcA	p.A234A		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GGCAAAAAGCCCTCTCAACCT	0.433																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(700-702)gcC>gcA		olfactory receptor, family 4, subfamily A, member 47							145	140	142					11																	48511046		2201	4298	6499	SO:0001819	synonymous_variant	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511046C>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.702C>A	11.37:g.48511046C>A			Somatic					p.A234A	NM_001005512.2	NP_001005512.2	WXS	Illumina GAIIx	Phase_I	Q6IF82	O4A47_HUMAN			1	778	+			234						Silent	SNP	ENST00000446524.1	37	c.702C>A	CCDS31490.1																																																																																				0.433	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		12	166	1	0	0.000978159	1	0.0010534	12	166					A	48511046	C	A	48511046	2	1	29	1	0	0	0	0	0	0	0	1	11051	610	22	5		5	OR4A47	11	48511046	Silent	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	47893428	48511046	86495470	53	2827										
P2RX3	5024	broad.mit.edu	37	chr11	57114099	57114099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	gtaaccaaggtgaagggctcCggactctacgccaacagagt	12	11	1	2	rs199590234	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:57114099C>T	ENST00000263314.2	+	2	235	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	67					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						TGAAGGGCTCCGGACTCTACG	0.557													C|||	3	0.000599042	0	0	5008	,	,		21376	0.001		0	False		,,,				2504	0.002					ENST00000263314.2																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						c.(199-201)tcC>tcT		purinergic receptor P2X, ligand-gated ion channel, 3		C		0,4402		0,0,2201	142	100	114		201	-4.1	0.9	11		114	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous	P2RX3	NM_002559.3		0,2,6495	TT,TC,CC		0.0233,0.0,0.0154		67/398	57114099	2,12992	2201	4296	6497	SO:0001819	synonymous_variant	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57114099C>T	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.201C>T	11.37:g.57114099C>T			Somatic					p.S67S	NM_002559.3	NP_002550.2	WXS	Illumina GAIIx	Phase_I	P56373	P2RX3_HUMAN			2	235	+			67					Q6DK37|Q9UQB6	Silent	SNP	ENST00000263314.2	37	c.201C>T	CCDS7953.1																																																																																				0.557	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		4	65	0	0	0	1	0	4	65					T	57114099	C	T	57114099	2	4	29	1	0	0	0	0	0	0	0	1	11350	639	23	1		1	P2RX3	11	57114099	Silent	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	8603053	57114099	77892417	54	2828										
FCHSD2	9873	broad.mit.edu	37	chr11	72552578	72552578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	gggctgctgggaggctggtcGtacaacggcagtggaggcag	20	8	0	0			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:72552578G>A	ENST00000409418.4	-	18	2360	c.1977C>T	c.(1975-1977)taC>taT	p.Y659Y	ATG16L2_ENST00000534905.1_Intron|FCHSD2_ENST00000409263.1_Silent_p.Y20Y|FCHSD2_ENST00000311172.7_Silent_p.Y603Y|FCHSD2_ENST00000409314.1_Silent_p.Y683Y|FCHSD2_ENST00000458644.2_Silent_p.Y523Y	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	659										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GAGGCTGGTCGTACAACGGCA	0.617																																						ENST00000409314.1																			0				endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22						c.(2047-2049)taC>taT		FCH and double SH3 domains 2							50	42	44					11																	72552578		2200	4293	6493	SO:0001819	synonymous_variant	9873						protein binding	g.chr11:72552578G>A	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"SH3 multiple domains 3"	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.1977C>T	11.37:g.72552578G>A			Somatic				FCHSD2_ENST00000311172.7_Silent_p.Y603Y|ATG16L2_ENST00000534905.1_Intron|FCHSD2_ENST00000409418.4_Silent_p.Y659Y|FCHSD2_ENST00000409263.1_Silent_p.Y20Y|FCHSD2_ENST00000458644.2_Silent_p.Y523Y	p.Y683Y			WXS	Illumina GAIIx	Phase_I	O94868	FCSD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.3e-05)		19	2217	-			659					B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Silent	SNP	ENST00000409418.4	37	c.2049C>T	CCDS8218.2																																																																																				0.617	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824		12	4	0	0	0	1	0	12	4					A	72552578	G	A	72552578	2	1	29	1	0	0	0	0	0	0	0	1	5798	1140	40	1		1	FCHSD2	11	72552578	Silent	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	15438479	72552578	62453938	55	2829										
RNF214	257160	broad.mit.edu	37	chr11	117152658	117152658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	ccagtccctctctggctcctCggatgcccttctccattggg	9	17	2	0	rs375077963		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:117152658C>T	ENST00000531452.1	+	11	1430	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	RNF214_ENST00000530849.1_Missense_Mutation_p.R307W|RNF214_ENST00000300650.4_Missense_Mutation_p.R462W|RNF214_ENST00000524917.1_Intron|RNF214_ENST00000531287.1_Missense_Mutation_p.R307W	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	462	Pro-rich.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TCTGGCTCCTCGGATGCCCTT	0.527																																						ENST00000530849.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(919-921)Cgg>Tgg		ring finger protein 214		C	TRP/ARG,TRP/ARG	1,3979		0,1,1989	189	189	189		1384,1384	5.7	1	11		189	0,8316		0,0,4158	no	missense,missense	RNF214	NM_001077239.1,NM_207343.2	101,101	0,1,6147	TT,TC,CC		0.0,0.0251,0.0081	probably-damaging,probably-damaging	462/704,462/704	117152658	1,12295	1990	4158	6148	SO:0001583	missense	257160						zinc ion binding	g.chr11:117152658C>T	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"RING-type (C3HC4) zinc fingers"	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1384C>T	11.37:g.117152658C>T	ENSP00000431643:p.Arg462Trp		Somatic				RNF214_ENST00000531287.1_Missense_Mutation_p.R307W|RNF214_ENST00000531452.1_Missense_Mutation_p.R462W|RNF214_ENST00000300650.4_Missense_Mutation_p.R462W|RNF214_ENST00000524917.1_Intron	p.R307W			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)	10	929	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	462					B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	c.919C>T	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130436	0.77549	2.51E-4	0.0	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650;ENST00000534709	T;T;T;T	0.48522	0.81;1.09;1.09;1.09	5.67	5.67	0.87782	.	0.152498	0.44688	D	0.000427	T	0.65154	0.2664	L	0.57536	1.79	0.37286	D	0.908069	D;D	0.89917	1.0;1.0	D;D	0.79108	0.988;0.992	T	0.70245	-0.4925	10	0.66056	D	0.02	-7.4599	15.2311	0.73390	0.1408:0.8592:0.0:0.0	.	307;462	B4DTD1;Q8ND24	.;RN214_HUMAN	W	307;462;307;462;14	ENSP00000435361:R307W;ENSP00000431643:R462W;ENSP00000432903:R307W;ENSP00000300650:R462W	ENSP00000300650:R462W	R	+	1	2	RNF214	116657868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.017000	0.29989	2.676000	0.91093	0.561000	0.74099	CGG		0.527	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239		72	113	0	0	0	1	0	72	113					T	117152658	C	T	117152658	3	4	29	1	0	0	0	0	1	0	0	0	13493	875	31	1	1422	1	RNF214	11	117152658	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	44600080	117152658	17853858	56	2830										
RAPGEF3	10411	broad.mit.edu	37	chr12	48132985	48132985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	agagcttggcgagggccagtCggtatacccggtggttccat	15	10	0	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:48132985C>T	ENST00000449771.2	-	24	2490	c.2402G>A	c.(2401-2403)cGa>cAa	p.R801Q	RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.R801Q|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.R759Q|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.R759Q|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.R692Q|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.R759Q			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	801	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GAGGGCCAGTCGGTATACCCG	0.597																																						ENST00000405493.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25						c.(2275-2277)cGa>cAa		Rap guanine nucleotide exchange factor (GEF) 3							124	90	102					12																	48132985		2203	4300	6503	SO:0001583	missense	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48132985C>T	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.2402G>A	12.37:g.48132985C>T	ENSP00000395708:p.Arg801Gln		Somatic				RAPGEF3_ENST00000449771.2_Missense_Mutation_p.R801Q|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.R692Q|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.R801Q|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.R759Q|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.R759Q	p.R759Q	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	WXS	Illumina GAIIx	Phase_I	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	24	2485	-	Lung SC(27;0.192)		759					A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	c.2276G>A	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	C	35	5.515679	0.96402	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	4.66	4.66	0.58398	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	D	0.88043	0.6331	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92991	0.6415	10	0.87932	D	0	.	16.6507	0.85188	0.0:1.0:0.0:0.0	.	801	O95398	RPGF3_HUMAN	Q	759;801;448;759;759;759;801;746;692	ENSP00000384521:R759Q;ENSP00000395708:R801Q;ENSP00000448619:R759Q;ENSP00000171000:R759Q;ENSP00000373864:R801Q;ENSP00000448480:R692Q	ENSP00000171000:R759Q	R	-	2	0	RAPGEF3	46419252	0.976000	0.34144	0.992000	0.48379	0.981000	0.71138	7.180000	0.77674	2.579000	0.87056	0.561000	0.74099	CGA		0.597	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		16	60	0	0	0	1	0	16	60					T	48132985	C	T	48132985	3	4	29	1	0	0	0	0	1	0	0	0	13060	884	31	1	389	1	RAPGEF3	12	48132985	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08		48132985	85718910	57	2831										
MLL2	8085	broad.mit.edu	37	chr12	49442982	49442982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	cacgaggccggcgtcttcctGggaaactgctgctgcgaccc	13	15	1	0			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:49442982G>A	ENST00000301067.7	-	12	3925	c.3926C>T	c.(3925-3927)cCa>cTa	p.P1309L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1309	Arg-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)										GCGTCTTCCTGGGAAACTGCT	0.547																																						ENST00000301067.7																			0											c.(3925-3927)cCa>cTa		lysine (K)-specific methyltransferase 2D							35	36	36					12																	49442982		1977	4144	6121	SO:0001583	missense	8085							g.chr12:49442982G>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.3926C>T	12.37:g.49442982G>A	ENSP00000301067:p.Pro1309Leu		Somatic					p.P1309L	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					12	3925	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.3926C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022958	0.54683	.	.	ENSG00000167548	ENST00000301067	D	0.82255	-1.59	5.78	5.78	0.91487	.	0.000000	0.35040	N	0.003486	D	0.90038	0.6889	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90326	0.4348	10	0.87932	D	0	.	18.7857	0.91954	0.0:0.0:1.0:0.0	.	1309	O14686	MLL2_HUMAN	L	1309	ENSP00000301067:P1309L	ENSP00000301067:P1309L	P	-	2	0	MLL2	47729249	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.570000	0.98174	2.740000	0.93945	0.313000	0.20887	CCA		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			8	13	0	0	0	1	0	8	13					A	49442982	G	A	49442982	3	1	29	1	0	0	0	0	1	0	0	0	9630	1348	47	3	12859	3	MLL2	12	49442982	Missense_Mutation	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	1309997	49442982	84408913	58	2832										
GPR182	11318	broad.mit.edu	37	chr12	57389633	57389633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	cttttgaaacgtacagcaccTgggccctggcggtggccctg	13	13	0	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:57389633T>C	ENST00000300098.1	+	2	859	c.640T>C	c.(640-642)Tgg>Cgg	p.W214R	RP11-474N8.5_ENST00000556850.1_RNA|HBCBP_ENST00000600202.1_5'Flank	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	214					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GTACAGCACCTGGGCCCTGGC	0.632																																						ENST00000300098.1																			0				endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						c.(640-642)Tgg>Cgg		G protein-coupled receptor 182							31	27	28					12																	57389633		2203	4298	6501	SO:0001583	missense	11318					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:57389633T>C	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"GPCR / Class A : Orphans"	13708	protein-coding gene	gene with protein product		605307	"adrenomedullin receptor"	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.640T>C	12.37:g.57389633T>C	ENSP00000300098:p.Trp214Arg		Somatic					p.W214R	NM_007264.3	NP_009195.1	WXS	Illumina GAIIx	Phase_I	O15218	GP182_HUMAN			2	859	+			214						Missense_Mutation	SNP	ENST00000300098.1	37	c.640T>C	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.773610	0.31411	.	.	ENSG00000166856	ENST00000300098	T	0.37915	1.17	3.89	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	M	0.78456	2.415	0.40848	D	0.983727	D	0.89917	1.0	D	0.97110	1.0	T	0.57562	-0.7790	10	0.87932	D	0	.	7.8646	0.29530	0.1854:0.0:0.0:0.8146	.	214	O15218	GP182_HUMAN	R	214	ENSP00000300098:W214R	ENSP00000300098:W214R	W	+	1	0	GPR182	55675900	1.000000	0.71417	0.280000	0.24747	0.169000	0.22640	7.757000	0.85209	0.628000	0.30357	0.459000	0.35465	TGG		0.632	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		17	26	0	0	0	1	0	17	26					C	57389633	T	C	57389633	3	2	29	1	0	0	0	0	1	0	0	0	6685	1580	55	4	642	4	GPR182	12	57389633	Missense_Mutation	SNP	T	TCGA-N8-A4PO-01A-11D-A28R-08	7946651	57389633	76462262	59	2833										
TBK1	29110	broad.mit.edu	37	chr12	64873902	64873902	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	tgtttcttgcagtctttctcGgtaagtatggtgtacctaat	9	7	3	0	rs56196591	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:64873902G>A	ENST00000331710.5	+	7	1151	c.812G>A	c.(811-813)cGg>cAg	p.R271Q		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> Q (in dbSNP:rs56196591). {ECO:0000269|PubMed:17344846}.		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)		AGTCTTTCTCGGTAAGTATGG	0.398													G|||	2	0.000399361	0.0015	0	5008	,	,		19265	0		0	False		,,,				2504	0					ENST00000331710.5																			0				breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20						c.e7+1		TANK-binding kinase 1		G	GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	179	170	173		812	2.8	0.9	12	dbSNP_129	173	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice	TBK1	NM_013254.3	43	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	benign	271/730	64873902	6,13000	2203	4300	6503	SO:0001630	splice_region_variant	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.chr12:64873902G>A	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.812+1G>A	12.37:g.64873902G>A			Somatic					p.R271_splice	NM_013254.3	NP_037386.1	WXS	Illumina GAIIx	Phase_I	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	7	1151	+			271		R -> Q (in dbSNP:rs56196591).	Protein kinase.		A8K4S4|Q8IYV3|Q9NUJ5	Splice_Site	SNP	ENST00000331710.5	37	c.812_splice	CCDS8968.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.019	0.371830	0.11409	0.001135	1.16E-4	ENSG00000183735	ENST00000331710	T	0.39592	1.07	4.71	2.85	0.33270	Protein kinase, catalytic domain (1);	0.286036	0.37393	N	0.002108	T	0.15825	0.0381	N	0.04335	-0.225	0.31808	N	0.627498	B	0.02656	0.0	B	0.01281	0.0	T	0.10894	-1.0610	9	.	.	.	-6.1395	3.3565	0.07171	0.3493:0.0:0.4721:0.1786	rs56196591	271	Q9UHD2	TBK1_HUMAN	Q	271	ENSP00000329967:R271Q	.	R	+	2	0	TBK1	63160169	1.000000	0.71417	0.918000	0.36340	0.442000	0.32017	1.227000	0.32576	0.518000	0.28383	0.585000	0.79938	CGG		0.398	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254	Missense_Mutation	14	36	0	0	0	1	0	14	36					A	64873902	G	A	64873902	5	1	29	1	0	0	0	0	0	0	1	0	15652	1130	39	1	834	1	TBK1	12	64873902	Splice_Site	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	7484269	64873902	68977993	60	2834										
USP30	84749	broad.mit.edu	37	chr12	109494590	109494590	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	ttacagaaagaaagaagcgtAgaaaaggtaagaatgagaac	11	3	0	6			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:109494590A>C	ENST00000257548.5	+	2	280	c.187A>C	c.(187-189)Aga>Cga	p.R63R	USP30-AS1_ENST00000478808.2_RNA|USP30_ENST00000392784.2_Silent_p.R32R	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	63					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						AAAGAAGCGTAGAAAAGGTAA	0.423																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(187-189)Aga>Cga		ubiquitin specific peptidase 30							112	118	116					12																	109494590		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.chr12:109494590A>C	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.187A>C	12.37:g.109494590A>C			Somatic				USP30_ENST00000392784.2_Silent_p.R32R	p.R63R	NM_032663.3	NP_116052.2	WXS	Illumina GAIIx	Phase_I	Q70CQ3	UBP30_HUMAN			2	280	+			63					Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	ENST00000257548.5	37	c.187A>C	CCDS9123.2																																																																																				0.423	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		16	55	0	0	0	1	0	16	55					C	109494590	A	C	109494590	2	2	29	1	0	0	0	0	0	0	0	1	17076	412	15	4		4	USP30	12	109494590	Silent	SNP	A	TCGA-N8-A4PO-01A-11D-A28R-08	44620688	109494590	24357305	61	2835										
TMEM132B	114795	broad.mit.edu	37	chr12	126138685	126138685	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	taatcctagtgacctcacagTgacctcaagggggctaacgg	11	11	2	2			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:126138685T>C	ENST00000299308.3	+	9	2674	c.2666T>C	c.(2665-2667)gTg>gCg	p.V889A	TMEM132B_ENST00000535886.1_Missense_Mutation_p.V401A	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	889						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GACCTCACAGTGACCTCAAGG	0.507																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2665-2667)gTg>gCg		transmembrane protein 132B							78	75	76					12																	126138685		1977	4161	6138	SO:0001583	missense	114795					integral to membrane		g.chr12:126138685T>C	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.2666T>C	12.37:g.126138685T>C	ENSP00000299308:p.Val889Ala		Somatic				TMEM132B_ENST00000535886.1_Missense_Mutation_p.V401A	p.V889A	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)	9	2674	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		889					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2666T>C	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	T	9.527	1.109710	0.20714	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.12984	2.63;2.63	5.43	5.43	0.79202	.	0.356772	0.23777	N	0.044678	T	0.11750	0.0286	L	0.34521	1.04	0.27899	N	0.939031	B	0.23249	0.082	B	0.28011	0.085	T	0.17319	-1.0373	10	0.25751	T	0.34	.	10.6992	0.45918	0.1424:0.0:0.0:0.8576	.	889	Q14DG7	T132B_HUMAN	A	889;401	ENSP00000299308:V889A;ENSP00000440436:V401A	ENSP00000299308:V889A	V	+	2	0	TMEM132B	124704638	1.000000	0.71417	0.770000	0.31555	0.814000	0.46013	4.077000	0.57598	2.057000	0.61298	0.533000	0.62120	GTG		0.507	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		8	92	0	0	0	1	0	8	92					C	126138685	T	C	126138685	3	2	29	1	0	0	0	0	1	0	0	0	16061	1696	59	4	2700	4	TMEM132B	12	126138685	Missense_Mutation	SNP	T	TCGA-N8-A4PO-01A-11D-A28R-08	16644095	126138685	7713210	62	2836										
COG6	57511	broad.mit.edu	37	chr13	40297490	40297490	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	atcgaagcacatttggacacActtataaatgagcaagcctc	7	10	0	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr13:40297490A>C	ENST00000455146.3	+	16	1655	c.1605A>C	c.(1603-1605)acA>acC	p.T535T	COG6_ENST00000416691.1_Silent_p.T535T	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	535					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)		ATTTGGACACACTTATAAATG	0.368																																						ENST00000416691.1																			0				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13						c.(1603-1605)acA>acC		component of oligomeric golgi complex 6							111	105	107					13																	40297490		2203	4299	6502	SO:0001819	synonymous_variant	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40297490A>C	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"Components of oligomeric golgi complex"	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.1605A>C	13.37:g.40297490A>C			Somatic				COG6_ENST00000455146.3_Silent_p.T535T	p.T535T	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)	16	1705	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	535					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Silent	SNP	ENST00000455146.3	37	c.1605A>C	CCDS9370.1																																																																																				0.368	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			14	17	0	0	0	1	0	14	17					C	40297490	A	C	40297490	2	2	29	1	0	0	0	0	0	0	0	1	3664	146	6	4		4	COG6	13	40297490	Silent	SNP	A	TCGA-N8-A4PO-01A-11D-A28R-08		40297490	74872388	63	2837										
STXBP6	29091	broad.mit.edu	37	chr14	25325252	25325252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	tgcatttttctgacgctgtgCtggctacccactggtcaaaa	9	11	2	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr14:25325252C>T	ENST00000323944.5	-	4	792	c.341G>A	c.(340-342)aGc>aAc	p.S114N	STXBP6_ENST00000546511.1_Missense_Mutation_p.S114N|STXBP6_ENST00000550887.1_Missense_Mutation_p.S114N|STXBP6_ENST00000396700.1_Missense_Mutation_p.S114N|STXBP6_ENST00000358326.2_Missense_Mutation_p.S114N|STXBP6_ENST00000419632.2_Missense_Mutation_p.S114N|STXBP6_ENST00000548724.1_Missense_Mutation_p.S114N			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	114					negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		TGACGCTGTGCTGGCTACCCA	0.423																																						ENST00000323944.5																			0				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7						c.(340-342)aGc>aAc		syntaxin binding protein 6 (amisyn)							125	106	112					14																	25325252		2203	4300	6503	SO:0001583	missense	0				vesicle-mediated transport	cytoplasm|integral to membrane		g.chr14:25325252C>T	AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952			19666	protein-coding gene	gene with protein product		607958				12145319	Standard	NM_014178		Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.341G>A	14.37:g.25325252C>T	ENSP00000324302:p.Ser114Asn		Somatic				STXBP6_ENST00000546511.1_Missense_Mutation_p.S114N|STXBP6_ENST00000550887.1_Missense_Mutation_p.S114N|STXBP6_ENST00000548724.1_Missense_Mutation_p.S114N|STXBP6_ENST00000419632.2_Missense_Mutation_p.S114N|STXBP6_ENST00000358326.2_Missense_Mutation_p.S114N|STXBP6_ENST00000396700.1_Missense_Mutation_p.S114N	p.S114N			WXS	Illumina GAIIx	Phase_I	Q8NFX7	STXB6_HUMAN		GBM - Glioblastoma multiforme(265;0.0296)	4	792	-			114					D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Missense_Mutation	SNP	ENST00000323944.5	37	c.341G>A	CCDS9634.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211227	0.58343	.	.	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000358326	.	.	.	5.18	5.18	0.71444	.	0.127751	0.64402	D	0.000001	T	0.59059	0.2166	L	0.58101	1.795	0.42714	D	0.99365	B	0.14438	0.01	B	0.04013	0.001	T	0.55704	-0.8099	9	0.30078	T	0.28	-14.5844	16.1802	0.81892	0.0:1.0:0.0:0.0	.	114	Q8NFX7	STXB6_HUMAN	N	114	.	ENSP00000324302:S114N	S	-	2	0	STXBP6	24395092	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.936000	0.63506	2.422000	0.82143	0.585000	0.79938	AGC		0.423	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1			4	57	0	0	0	1	0	4	57					T	25325252	C	T	25325252	3	4	29	1	0	0	0	0	1	0	0	0	15373	797	28	3	303	3	STXBP6	14	25325252	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08		25325252	82024288	64	2838										
SAV1	60485	broad.mit.edu	37	chr14	51132202	51132202	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	catgaggtgttctttgaattGgagttctaaggaaactctgg	12	5	3	2			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr14:51132202G>C	ENST00000324679.4	-	2	593	c.230C>G	c.(229-231)cCa>cGa	p.P77R	RP11-248J18.2_ENST00000602954.1_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	77					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)					TCTTTGAATTGGAGTTCTAAG	0.393																																						ENST00000324679.4																			0				breast(1)|kidney(2)|lung(2)|prostate(1)	6						c.(229-231)cCa>cGa		salvador homolog 1 (Drosophila)							51	43	46					14																	51132202		2203	4299	6502	SO:0001583	missense	60485				hippo signaling cascade	cytoplasm|nucleus	identical protein binding	g.chr14:51132202G>C	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.230C>G	14.37:g.51132202G>C	ENSP00000324729:p.Pro77Arg		Somatic					p.P77R	NM_021818.3	NP_068590.1	WXS	Illumina GAIIx	Phase_I	Q9H4B6	SAV1_HUMAN			2	593	-	all_epithelial(31;0.000611)|Breast(41;0.0333)		77					A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Missense_Mutation	SNP	ENST00000324679.4	37	c.230C>G	CCDS9701.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722349	0.48728	.	.	ENSG00000151748	ENST00000555720;ENST00000324679;ENST00000535862	T;T	0.45668	0.89;1.03	5.14	4.24	0.50183	.	0.165659	0.53938	D	0.000045	T	0.30293	0.0760	L	0.27053	0.805	0.45318	D	0.998317	B	0.13145	0.007	B	0.08055	0.003	T	0.12041	-1.0563	10	0.54805	T	0.06	-2.4612	12.1311	0.53944	0.0826:0.0:0.9174:0.0	.	77	Q9H4B6	SAV1_HUMAN	R	9;77;44	ENSP00000451492:P9R;ENSP00000324729:P77R	ENSP00000324729:P77R	P	-	2	0	SAV1	50201952	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.301000	0.72782	2.397000	0.81536	0.563000	0.77884	CCA		0.393	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			5	12	0	0	0	1	0	5	12					C	51132202	G	C	51132202	3	2	29	1	0	0	0	0	1	0	0	0	13871	1348	47	5	937	5	SAV1	14	51132202	Missense_Mutation	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	25806950	51132202	56217338	65	2839										
MEIS2	4212	broad.mit.edu	37	chr15	37390250	37390250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	catgacattggggtgcggggCgtgcgcgccgtagtgctgtg	19	9	0	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr15:37390250C>T	ENST00000561208.1	-	2	581	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	MEIS2_ENST00000382766.2_Missense_Mutation_p.A55T|MEIS2_ENST00000557796.2_Missense_Mutation_p.A42T|MEIS2_ENST00000340545.5_Missense_Mutation_p.A42T|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000338564.5_Missense_Mutation_p.A55T|MEIS2_ENST00000559085.1_Missense_Mutation_p.A42T|MEIS2_ENST00000559561.1_Missense_Mutation_p.A55T|MEIS2_ENST00000424352.2_Missense_Mutation_p.A55T|MEIS2_ENST00000444725.1_Missense_Mutation_p.A55T|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000219869.9_5'UTR			O14770	MEIS2_HUMAN	Meis homeobox 2	55					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)		GGGTGCGGGGCGTGCGCGCCG	0.667																																						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.(163-165)Gcc>Acc		Meis homeobox 2							58	59	59					15																	37390250		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.chr15:37390250C>T	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.163G>A	15.37:g.37390250C>T	ENSP00000453793:p.Ala55Thr		Somatic				MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.A55T|MEIS2_ENST00000340545.5_Missense_Mutation_p.A42T|MEIS2_ENST00000444725.1_Missense_Mutation_p.A55T|MEIS2_ENST00000424352.2_Missense_Mutation_p.A55T|MEIS2_ENST00000559561.1_Missense_Mutation_p.A55T|MEIS2_ENST00000561208.1_Missense_Mutation_p.A55T|MEIS2_ENST00000557796.2_Missense_Mutation_p.A42T|MEIS2_ENST00000559085.1_Missense_Mutation_p.A42T|MEIS2_ENST00000219869.9_5'UTR	p.A55T	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)	3	609	-		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)	55					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.163G>A	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277035	0.59758	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	N	0.14661	0.345	0.58432	D	0.999999	B;B;B;B;P;B	0.38863	0.003;0.005;0.006;0.005;0.65;0.003	B;B;B;B;B;B	0.32583	0.002;0.006;0.008;0.002;0.148;0.001	T	0.06935	-1.0799	10	0.10111	T	0.7	-7.3411	19.0381	0.92987	0.0:1.0:0.0:0.0	.	42;55;55;55;55;42	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP98	.;.;MEIS2_HUMAN;.;.;.	T	55;55;55;55;55;42;42	ENSP00000326296:A55T;ENSP00000341400:A55T;ENSP00000372216:A55T;ENSP00000404185:A55T;ENSP00000391887:A55T;ENSP00000339549:A42T	ENSP00000326296:A55T	A	-	1	0	MEIS2	35177542	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.684000	0.68197	2.568000	0.86640	0.655000	0.94253	GCC		0.667	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		36	7	0	0	0	1	0	36	7					T	37390250	C	T	37390250	3	4	29	1	0	0	0	0	1	0	0	0	9477	768	27	1	1377	1	MEIS2	15	37390250	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08		37390250	65141142	66	2840										
RHCG	51458	broad.mit.edu	37	chr15	90026330	90026330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	aaggagaatgaactcattcaCagcgaagagggtcacttgga	12	7	3	3			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr15:90026330C>T	ENST00000268122.4	-	3	558	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	RHCG_ENST00000544600.1_Missense_Mutation_p.V164M	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	164					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AACTCATTCACAGCGAAGAGG	0.542																																						ENST00000268122.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(490-492)Gtg>Atg		Rh family, C glycoprotein							68	52	57					15																	90026330		2200	4299	6499	SO:0001583	missense	51458				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr15:90026330C>T	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"Solute carriers"	18140	protein-coding gene	gene with protein product		605381	"chromosome 15 open reading frame 6", "Rhesus blood group, C glycoprotein"	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.490G>A	15.37:g.90026330C>T	ENSP00000268122:p.Val164Met		Somatic				RHCG_ENST00000544600.1_Missense_Mutation_p.V164M	p.V164M	NM_016321.1	NP_057405.1	WXS	Illumina GAIIx	Phase_I	Q9UBD6	RHCG_HUMAN			3	558	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		164					A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	37	c.490G>A	CCDS10351.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993998	0.54041	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.22336	1.96;1.96	5.47	3.56	0.40772	Ammonium transporter AmtB-like (3);	0.304748	0.35466	N	0.003192	T	0.45236	0.1332	M	0.92833	3.35	0.58432	D	0.999998	P;P	0.37158	0.585;0.585	P;P	0.48770	0.589;0.589	T	0.46289	-0.9202	9	.	.	.	-11.608	11.0751	0.48027	0.0:0.8008:0.1291:0.0701	.	164;164	A8K4D4;Q9UBD6	.;RHCG_HUMAN	M	164;164;155	ENSP00000438123:V164M;ENSP00000268122:V164M	.	V	-	1	0	RHCG	87827334	0.999000	0.42202	0.194000	0.23346	0.420000	0.31355	4.076000	0.57591	0.655000	0.30866	0.655000	0.94253	GTG		0.542	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		4	7	0	0	0	1	0	4	7					T	90026330	C	T	90026330	3	4	29	1	0	0	0	0	1	0	0	0	13341	478	17	3	981	3	RHCG	15	90026330	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	52636080	90026330	12505062	67	2841										
MMP25	64386	broad.mit.edu	37	chr16	3107185	3107185	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	taccgcctgtctcaggatgaCcgcgatggcctgcagcaact	11	14	1	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr16:3107185C>G	ENST00000336577.4	+	5	1050	c.813C>G	c.(811-813)gaC>gaG	p.D271E	RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000597579.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	275					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)	CTCAGGATGACCGCGATGGCC	0.642																																					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.(811-813)gaC>gaG		matrix metallopeptidase 25							122	126	125					16																	3107185		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.chr16:3107185C>G	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.813C>G	16.37:g.3107185C>G	ENSP00000337816:p.Asp271Glu		Somatic				RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA	p.D271E	NM_022468.4	NP_071913.1	WXS	Illumina GAIIx	Phase_I	Q9NPA2	MMP25_HUMAN			5	1050	+			271					Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000336577.4	37	c.813C>G	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	c	15.32	2.799633	0.50208	.	.	ENSG00000008516	ENST00000336577	T	0.58652	0.32	4.67	3.71	0.42584	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.51477	D	0.000095	T	0.78616	0.4311	M	0.93375	3.41	0.44330	D	0.997218	D	0.89917	1.0	D	0.97110	1.0	T	0.79603	-0.1735	10	0.87932	D	0	.	7.1047	0.25356	0.0:0.7952:0.0:0.2048	.	271	Q9NPA2	MMP25_HUMAN	E	271	ENSP00000337816:D271E	ENSP00000337816:D271E	D	+	3	2	MMP25	3047186	0.196000	0.23350	0.962000	0.40283	0.058000	0.15608	0.779000	0.26746	0.971000	0.38288	0.306000	0.20318	GAC		0.642	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		16	225	0	0	0	1	0	16	225					G	3107185	C	G	3107185	3	3	29	1	0	0	0	0	1	0	0	0	9671	506	18	5	831	5	MMP25	16	3107185	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08		3107185	87247568	68	2842										
COQ7	10229	broad.mit.edu	37	chr16	19079036	19079036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	ccgcctttggcggctgcgccCgggggcccggcggtccctct	16	18	1	0	rs529955941	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr16:19079036C>T	ENST00000321998.5	+	1	116	c.50C>T	c.(49-51)cCg>cTg	p.P17L	RP11-626G11.5_ENST00000571934.1_RNA|RP11-626G11.5_ENST00000576433.1_RNA|RP11-626G11.1_ENST00000565802.1_lincRNA|RP11-626G11.5_ENST00000567047.1_RNA|COQ7_ENST00000568985.1_Missense_Mutation_p.P17L|COQ7_ENST00000544894.2_5'Flank|COQ7_ENST00000569127.1_5'Flank|RP11-626G11.5_ENST00000568971.1_RNA	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	17					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						cggctgcgcccgggggcccgg	0.627													C|||	9	0.00179712	0	0	5008	,	,		10625	0.0089		0	False		,,,				2504	0					ENST00000321998.5																			0				breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						c.(49-51)cCg>cTg		coenzyme Q7 homolog, ubiquinone (yeast)							12	14	14					16																	19079036		2141	4233	6374	SO:0001583	missense	10229				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding	g.chr16:19079036C>T	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.50C>T	16.37:g.19079036C>T	ENSP00000322316:p.Pro17Leu		Somatic				COQ7_ENST00000568985.1_Missense_Mutation_p.P17L	p.P17L	NM_016138.4	NP_057222.2	WXS	Illumina GAIIx	Phase_I	Q99807	COQ7_HUMAN			1	116	+			17					B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Missense_Mutation	SNP	ENST00000321998.5	37	c.50C>T	CCDS10574.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044315	0.36085	.	.	ENSG00000167186	ENST00000321998	T	0.41758	0.99	4.57	-0.629	0.11533	.	1.757380	0.02734	N	0.115418	T	0.20659	0.0497	N	0.08118	0	0.21147	N	0.999778	B	0.02656	0.0	B	0.01281	0.0	T	0.09885	-1.0654	10	0.15499	T	0.54	-10.6372	3.5677	0.07905	0.1692:0.4625:0.0:0.3684	.	17	Q99807	COQ7_HUMAN	L	17	ENSP00000322316:P17L	ENSP00000322316:P17L	P	+	2	0	COQ7	18986537	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.039000	0.03550	-0.054000	0.13266	-0.824000	0.03097	CCG		0.627	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254275.3	NM_016138		9	44	0	0	0	1	0	9	44					T	19079036	C	T	19079036	3	4	29	1	0	0	0	0	1	0	0	0	3752	652	23	1	52	1	COQ7	16	19079036	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	15971851	19079036	71275717	69	2843										
SYT17	51760	broad.mit.edu	37	chr16	19195202	19195202	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	caggacatggcgcactccaaCccctacgtcaagatctgtct	8	15	3	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr16:19195202C>A	ENST00000355377.2	+	5	1082	c.684C>A	c.(682-684)aaC>aaA	p.N228K	SYT17_ENST00000568115.1_Missense_Mutation_p.N167K|SYT17_ENST00000562034.1_Missense_Mutation_p.N167K|SYT17_ENST00000562711.2_Missense_Mutation_p.N224K	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	228	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						CGCACTCCAACCCCTACGTCA	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.(499-501)aaC>aaA		synaptotagmin XVII							129	120	123					16																	19195202		2197	4300	6497	SO:0001583	missense	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19195202C>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.684C>A	16.37:g.19195202C>A	ENSP00000347538:p.Asn228Lys		Somatic				SYT17_ENST00000355377.2_Missense_Mutation_p.N228K|SYT17_ENST00000568115.1_Missense_Mutation_p.N167K|SYT17_ENST00000562711.2_Missense_Mutation_p.N224K	p.N167K			WXS	Illumina GAIIx	Phase_I	Q9BSW7	SYT17_HUMAN			3	4299	+			228					O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	c.501C>A	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	c	26.5	4.740276	0.89573	.	.	ENSG00000103528	ENST00000355377	T	0.08370	3.1	5.65	4.7	0.59300	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000002	T	0.24774	0.0601	M	0.85630	2.765	0.80722	D	1	P;P	0.44044	0.825;0.718	P;P	0.55667	0.781;0.781	T	0.00343	-1.1802	10	0.87932	D	0	.	8.6021	0.33751	0.0:0.7856:0.0:0.2144	.	228;167	Q9BSW7;B4DJB2	SYT17_HUMAN;.	K	228	ENSP00000347538:N228K	ENSP00000347538:N228K	N	+	3	2	SYT17	19102703	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.173000	0.42472	2.661000	0.90470	0.558000	0.71614	AAC		0.612	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		29	303	1	0	4.74835e-14	1	5.48892e-14	29	303					A	19195202	C	A	19195202	3	1	29	1	0	0	0	0	1	0	0	0	15488	506	18	5	702	5	SYT17	16	19195202	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	116166	19195202	71159551	70	2844										
RAP1GAP2	23108	broad.mit.edu	37	chr17	2911416	2911416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	agtttgagaatggaggccacGgggggttcctggagtctttt	16	6	1	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:2911416G>A	ENST00000254695.8	+	17	1561	c.1471G>A	c.(1471-1473)Ggg>Agg	p.G491R	RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.G476R|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.G472R|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.G491R	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	491					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						TGGAGGCCACGGGGGGTTCCT	0.582																																						ENST00000254695.8																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(1471-1473)Ggg>Agg		RAP1 GTPase activating protein 2							82	87	85					17																	2911416		1941	4127	6068	SO:0001583	missense	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2911416G>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.1471G>A	17.37:g.2911416G>A	ENSP00000254695:p.Gly491Arg		Somatic				RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.G491R|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.G472R|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.G476R	p.G491R	NM_015085.4	NP_055900.4	WXS	Illumina GAIIx	Phase_I	Q684P5	RPGP2_HUMAN			17	1561	+			491					B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	c.1471G>A	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102430	0.94245	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.92199	-2.91;-2.99;-2.88;-2.91	5.41	5.41	0.78517	.	0.151515	0.64402	N	0.000016	D	0.96349	0.8809	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96621	0.9459	10	0.66056	D	0.02	-17.7504	18.1748	0.89758	0.0:0.0:1.0:0.0	.	476;491	Q684P5-2;Q684P5	.;RPGP2_HUMAN	R	491;476;472;491	ENSP00000254695:G491R;ENSP00000389824:G476R;ENSP00000439688:G472R;ENSP00000444890:G491R	ENSP00000254695:G491R	G	+	1	0	RAP1GAP2	2858166	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	9.869000	0.99810	2.528000	0.85240	0.462000	0.41574	GGG		0.582	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			10	64	0	0	0	1	0	10	64					A	2911416	G	A	2911416	3	1	29	1	0	0	0	0	1	0	0	0	13053	1116	39	1	1537	1	RAP1GAP2	17	2911416	Missense_Mutation	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08		2911416	78283794	71	2845										
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	p.R248Q	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	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		50	7	0	0	0	1	0	50	7					T	7577538	C	T	7577538	3	4	29	1	0	0	0	0	1	0	0	0	16396	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	4666122	7577538	73617672	72	2846										
DNAH9	1770	broad.mit.edu	37	chr17	11651054	11651054	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	tgatgagctctttggcatcaTcaatccagccacaggagaat	9	10	3	3			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:11651054T>A	ENST00000262442.4	+	32	6649	c.6581T>A	c.(6580-6582)aTc>aAc	p.I2194N	DNAH9_ENST00000454412.2_Missense_Mutation_p.I2194N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2194	AAA 2. {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)		TTTGGCATCATCAATCCAGCC	0.527																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(6580-6582)aTc>aAc		dynein, axonemal, heavy chain 9							61	57	58					17																	11651054		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.chr17:11651054T>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.6581T>A	17.37:g.11651054T>A	ENSP00000262442:p.Ile2194Asn		Somatic				DNAH9_ENST00000454412.2_Missense_Mutation_p.I2194N	p.I2194N	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)	32	6649	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2194			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6581T>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.154593	0.78114	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.56941	0.43;0.43	4.5	4.5	0.54988	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.062980	0.64402	D	0.000009	T	0.72661	0.3488	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.77752	-0.2470	10	0.87932	D	0	.	13.9979	0.64414	0.0:0.0:0.0:1.0	.	2194	Q9NYC9	DYH9_HUMAN	N	2194;2194;776	ENSP00000262442:I2194N;ENSP00000414874:I2194N	ENSP00000262442:I2194N	I	+	2	0	DNAH9	11591779	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.789000	0.85783	1.902000	0.55061	0.455000	0.32223	ATC		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		26	34	0	0	0	1	0	26	34					A	11651054	T	A	11651054	3	1	29	1	0	0	0	0	1	0	0	0	4610	1435	50	4	6707	4	DNAH9	17	11651054	Missense_Mutation	SNP	T	TCGA-N8-A4PO-01A-11D-A28R-08	4073516	11651054	69544156	73	2847										
ZSWIM7	125150	broad.mit.edu	37	chr17	15884460	15884460	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	tactggaacttccaaggaccTacaaagaaaggatagatggg	11	7	0	2			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:15884460T>A	ENST00000399277.1	-	4	299		c.e4-2		ZSWIM7_ENST00000472495.1_Splice_Site|ZSWIM7_ENST00000486655.1_Intron|ZSWIM7_ENST00000399280.2_Splice_Site	NM_001042697.1|NM_001042698.1	NP_001036162.1|NP_001036163.1	Q19AV6	ZSWM7_HUMAN	zinc finger, SWIM-type containing 7						double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	zinc ion binding (GO:0008270)			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0827)		TCCAAGGACCTACAAAGAAAG	0.423																																						ENST00000399277.1																			0				upper_aerodigestive_tract(1)	1						c.e4-2		zinc finger, SWIM-type containing 7							94	89	90					17																	15884460		1927	4144	6071	SO:0001630	splice_region_variant	125150				DNA recombination|DNA repair	nucleus	zinc ion binding	g.chr17:15884460T>A	AK093384	CCDS42266.1	17p11.2	2014-02-12			ENSG00000214941	ENSG00000214941		"Zinc fingers, SWIM-type"	26993	protein-coding gene	gene with protein product	"SWIM domain containing Srs2 interacting protein 1"	614535				16710300	Standard	NM_001042698		Approved	SWS1	uc002gpf.3	Q19AV6	OTTHUMG00000059308	ENST00000399277.1:c.202-2A>T	17.37:g.15884460T>A			Somatic				ZSWIM7_ENST00000486655.1_Intron|ZSWIM7_ENST00000472495.1_Splice_Site|ZSWIM7_ENST00000399280.2_Splice_Site		NM_001042697.1|NM_001042698.1	NP_001036162.1|NP_001036163.1	WXS	Illumina GAIIx	Phase_I	Q19AV6	ZSWM7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0827)	4	299	-									Splice_Site	SNP	ENST00000399277.1	37		CCDS42266.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598488	0.46318	.	.	ENSG00000214941	ENST00000399277;ENST00000472495	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1404	0.72607	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZSWIM7	15825185	1.000000	0.71417	0.990000	0.47175	0.352000	0.29268	6.849000	0.75414	2.180000	0.69256	0.482000	0.46254	.		0.423	ZSWIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131736.1	NM_001042697	Intron	10	25	0	0	0	1	0	10	25					A	15884460	T	A	15884460	5	1	29	1	0	0	0	0	0	0	1	0	18260	1536	53	4	230	4	ZSWIM7	17	15884460	Splice_Site	SNP	T	TCGA-N8-A4PO-01A-11D-A28R-08	4233406	15884460	65310750	74	2848										
CHAD	1101	broad.mit.edu	37	chr17	48545806	48545806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	aggtagaggtaggtcagctcGgtcaggtcgtcgaaggcacc	16	9	2	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:48545806G>A	ENST00000508540.1	-	1	521	c.369C>T	c.(367-369)acC>acT	p.T123T	ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron|CHAD_ENST00000258969.4_Silent_p.T123T	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	123					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGGTCAGCTCGGTCAGGTCGT	0.602																																						ENST00000508540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15						c.(367-369)acC>acT		chondroadherin							73	60	65					17																	48545806		2203	4300	6503	SO:0001819	synonymous_variant	1101				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr17:48545806G>A	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1909	protein-coding gene	gene with protein product	"chondroadherin proteoglycan"	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.369C>T	17.37:g.48545806G>A			Somatic				ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron|CHAD_ENST00000258969.4_Silent_p.T123T|ACSF2_ENST00000300441.4_Intron	p.T123T	NM_001267.2	NP_001258.2	WXS	Illumina GAIIx	Phase_I	O15335	CHAD_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		1	521	-	Breast(11;1.93e-18)		123					A8K812|Q6GTU0|Q96RJ5	Silent	SNP	ENST00000508540.1	37	c.369C>T	CCDS11568.1																																																																																				0.602	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		7	147	0	0	0	1	0	7	147					A	48545806	G	A	48545806	2	1	29	1	0	0	0	0	0	0	0	1	3312	1103	39	1		1	CHAD	17	48545806	Silent	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	32661346	48545806	32649404	75	2849										
C17orf70	80233	broad.mit.edu	37	chr17	79514331	79514331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	ggacacggtcacgggcaggtCgagcccgccgttctcaccag	14	15	2	0			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:79514331C>T	ENST00000327787.8	-	5	1823	c.1777G>A	c.(1777-1779)Gac>Aac	p.D593N	C17orf70_ENST00000425898.2_Missense_Mutation_p.D242N|C17orf70_ENST00000537152.1_Missense_Mutation_p.D442N			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	593					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D442N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACGGGCAGGTCGAGCCCGCCG	0.682																																						ENST00000537152.1																			1	Substitution - Missense(1)	p.D442N(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1324-1326)Gac>Aac		chromosome 17 open reading frame 70							31	31	31					17																	79514331		2202	4290	6492	SO:0001583	missense	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79514331C>T	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1777G>A	17.37:g.79514331C>T	ENSP00000333283:p.Asp593Asn		Somatic				C17orf70_ENST00000327787.8_Missense_Mutation_p.D593N|C17orf70_ENST00000425898.2_Missense_Mutation_p.D242N	p.D442N	NM_025161.5	NP_079437.5	WXS	Illumina GAIIx	Phase_I	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		5	1849	-	all_neural(118;0.0878)|Melanoma(429;0.242)		593					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	c.1324G>A	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166769	0.38217	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000537152	T;T;T	0.33865	1.39;1.39;1.39	4.49	2.51	0.30379	.	0.325435	0.29093	N	0.013164	T	0.29556	0.0737	M	0.63428	1.95	0.19775	N	0.999959	B;P	0.38745	0.389;0.645	B;B	0.30572	0.039;0.117	T	0.14839	-1.0458	10	0.48119	T	0.1	.	9.3926	0.38383	0.0:0.8235:0.0:0.1765	.	593;242	Q0VG06;E7EVV8	FP100_HUMAN;.	N	593;242;442	ENSP00000333283:D593N;ENSP00000399674:D242N;ENSP00000440151:D442N	ENSP00000333283:D593N	D	-	1	0	C17orf70	77124784	0.481000	0.25941	0.157000	0.22605	0.161000	0.22273	1.164000	0.31810	0.532000	0.28657	0.561000	0.74099	GAC		0.682	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		31	80	0	0	0	1	0	31	80					T	79514331	C	T	79514331	3	4	29	1	0	0	0	0	1	0	0	0	1879	884	31	1	888	1	C17orf70	17	79514331	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	30968525	79514331	1680879	76	2850										
DNM2	1785	broad.mit.edu	37	chr19	10906831	10906831	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	gtctgaaatgtgtcgacctgGttatccaggagctaatcaat	10	8	2	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:10906831G>C	ENST00000355667.6	+	10	1371	c.1291G>C	c.(1291-1293)Gtt>Ctt	p.V431L	DNM2_ENST00000408974.4_Intron|DNM2_ENST00000585892.1_Missense_Mutation_p.V431L|DNM2_ENST00000359692.6_Missense_Mutation_p.V431L|DNM2_ENST00000389253.4_Intron|DNM2_ENST00000314646.5_Intron	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	431					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)			TGTCGACCTGGTTATCCAGGA	0.532			"F, N, Splice, Mis, O"		ETP ALL																																	ENST00000359692.6				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.(1291-1293)Gtt>Ctt		dynamin 2							171	154	160					19																	10906831		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.chr19:10906831G>C		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.1291G>C	19.37:g.10906831G>C	ENSP00000347890:p.Val431Leu		Somatic				DNM2_ENST00000389253.4_Intron|DNM2_ENST00000408974.4_Intron|DNM2_ENST00000585892.1_Missense_Mutation_p.V431L|DNM2_ENST00000355667.6_Missense_Mutation_p.V431L|DNM2_ENST00000314646.5_Intron	p.V431L	NM_004945.3	NP_004936.2	WXS	Illumina GAIIx	Phase_I	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		10	1441	+			431					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1291G>C	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836030	0.91117	.	.	ENSG00000079805	ENST00000355667;ENST00000359692	D;D	0.82255	-1.59;-1.59	4.59	4.59	0.56863	Dynamin central domain (1);Pleckstrin homology-type (1);	.	.	.	.	D	0.94525	0.8237	H	0.97829	4.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.99	D	0.96760	0.9560	9	0.87932	D	0	.	16.1837	0.81929	0.0:0.0:1.0:0.0	.	25;431;431	Q8N1K8;P50570-2;P50570	.;.;DYN2_HUMAN	L	431	ENSP00000347890:V431L;ENSP00000352721:V431L	ENSP00000347890:V431L	V	+	1	0	DNM2	10767831	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.830000	0.99415	2.102000	0.63906	0.561000	0.74099	GTT		0.532	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		38	133	0	0	0	1	0	38	133					C	10906831	G	C	10906831	3	2	29	1	0	0	0	0	1	0	0	0	4674	1261	44	5	1329	5	DNM2	19	10906831	Missense_Mutation	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08		10906831	48222152	77	2851										
DCAF15	90379	broad.mit.edu	37	chr19	14070448	14070448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	ggtgactgatcttcgtggccGcaacctgcggcccatgcggg	15	13	1	2			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:14070448G>A	ENST00000254337.6	+	8	1295	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	425					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CTTCGTGGCCGCAACCTGCGG	0.697											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(1273-1275)cGc>cAc		DDB1 and CUL4 associated factor 15							56	61	59					19																	14070448		2203	4300	6503	SO:0001583	missense	90379							g.chr19:14070448G>A	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"DDB1 and CUL4 associated factors"	25095	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 72"	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1274G>A	19.37:g.14070448G>A	ENSP00000254337:p.Arg425His		Somatic	OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692		p.R425H	NM_138353.2	NP_612362.2	WXS	Illumina GAIIx	Phase_I	Q66K64	DCA15_HUMAN			8	1295	+			425					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.1274G>A	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	g	22.9	4.352853	0.82132	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.87	4.87	0.63330	.	0.164291	0.41097	D	0.000959	T	0.53077	0.1774	L	0.29908	0.895	0.37544	D	0.918445	D	0.76494	0.999	P	0.57152	0.814	T	0.61471	-0.7056	9	0.72032	D	0.01	-22.1225	10.4616	0.44583	0.0919:0.0:0.9081:0.0	.	425	Q66K64	DCA15_HUMAN	H	425	.	ENSP00000254337:R425H	R	+	2	0	DCAF15	13931448	1.000000	0.71417	0.982000	0.44146	0.923000	0.55619	3.545000	0.53648	2.253000	0.74438	0.561000	0.74099	CGC		0.697	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		5	255	0	0	0	1	0	5	255					A	14070448	G	A	14070448	3	1	29	1	0	0	0	0	1	0	0	0	4269	1087	38	1	1304	1	DCAF15	19	14070448	Missense_Mutation	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	3163617	14070448	45058535	78	2852										
JAK3	3718	broad.mit.edu	37	chr19	17943399	17943399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	ctttgaggatctgaatctccCgctgaaagtccctctgctgg	10	12	3	3	rs376945173		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:17943399C>T	ENST00000527670.1	-	18	2638	c.2609G>A	c.(2608-2610)cGg>cAg	p.R870Q	JAK3_ENST00000458235.1_Missense_Mutation_p.R870Q|JAK3_ENST00000534444.1_Missense_Mutation_p.R870Q			P52333	JAK3_HUMAN	Janus kinase 3	870	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)	CTGAATCTCCCGCTGAAAGTC	0.577		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								C|||	0	0	0	0	5008	,	,		20140	0		0	False		,,,				2504	0					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.(2608-2610)cGg>cAg		Janus kinase 3		C	GLN/ARG	0,4406		0,0,2203	104	89	94		2609	4.5	1	19		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	JAK3	NM_000215.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	870/1125	17943399	1,13005	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.chr19:17943399C>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.2609G>A	19.37:g.17943399C>T	ENSP00000432511:p.Arg870Gln		Somatic				JAK3_ENST00000527670.1_Missense_Mutation_p.R870Q|JAK3_ENST00000534444.1_Missense_Mutation_p.R870Q	p.R870Q	NM_000215.3	NP_000206.2	WXS	Illumina GAIIx	Phase_I	P52333	JAK3_HUMAN			19	2708	-			870			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.2609G>A	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173509	0.78452	0.0	1.16E-4	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	D;D;D	0.82619	-1.63;-1.63;-1.63	4.52	4.52	0.55395	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.124032	0.51477	D	0.000094	D	0.82866	0.5130	N	0.16016	0.355	0.53005	D	0.99996	D;D	0.89917	1.0;0.995	D;P	0.70935	0.971;0.766	D	0.84670	0.0711	10	0.49607	T	0.09	-36.2842	15.1136	0.72380	0.0:1.0:0.0:0.0	.	870;870	P52333-2;P52333	.;JAK3_HUMAN	Q	870	ENSP00000391676:R870Q;ENSP00000432511:R870Q;ENSP00000436421:R870Q	ENSP00000391676:R870Q	R	-	2	0	JAK3	17804399	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.303000	0.59098	2.510000	0.84645	0.549000	0.68633	CGG		0.577	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		34	148	0	0	0	1	0	34	148					T	17943399	C	T	17943399	3	4	29	1	0	0	0	0	1	0	0	0	7948	652	23	1	789	1	JAK3	19	17943399	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	3872951	17943399	41185584	79	2853										
KIRREL2	84063	broad.mit.edu	37	chr19	36357197	36357197	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	ctaccttctatgacttcaacCcacacctgggcatggtcccc	6	17	2	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:36357197C>G	ENST00000360202.5	+	15	2128	c.1930C>G	c.(1930-1932)Cca>Gca	p.P644A	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Intron|APLP1_ENST00000221891.4_5'Flank|KIRREL2_ENST00000592409.1_Missense_Mutation_p.P609A|KIRREL2_ENST00000347900.6_Intron|APLP1_ENST00000537454.2_5'Flank	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	644	Pro-rich.				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)			TGACTTCAACCCACACCTGGG	0.622																																						ENST00000360202.5																			0				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						c.(1930-1932)Cca>Gca		kin of IRRE like 2 (Drosophila)							73	76	75					19																	36357197		2203	4300	6503	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36357197C>G	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		ENST00000360202.5:c.1930C>G	19.37:g.36357197C>G	ENSP00000353331:p.Pro644Ala		Somatic				KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.P624A|KIRREL2_ENST00000592409.1_Missense_Mutation_p.P609A|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Intron	p.P644A	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	WXS	Illumina GAIIx	Phase_I	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		15	2128	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		644			Pro-rich.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.1930C>G	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	C	3.597	-0.082300	0.07141	.	.	ENSG00000126259	ENST00000360202;ENST00000341658;ENST00000270294	T	0.63913	-0.07	5.1	-2.84	0.05751	.	0.307206	0.23635	N	0.046085	T	0.33089	0.0851	N	0.19112	0.55	0.09310	N	0.999998	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.10450	0.002;0.005;0.002	T	0.06391	-1.0829	9	.	.	.	-1.0441	1.0879	0.01657	0.1446:0.3172:0.2825:0.2557	.	644;624;644	F1T0I2;Q6UWL6-4;Q6UWL6	.;.;KIRR2_HUMAN	A	644;624;155	ENSP00000353331:P644A	.	P	+	1	0	KIRREL2	41049037	0.031000	0.19500	0.064000	0.19789	0.821000	0.46438	0.023000	0.13533	-0.303000	0.08856	0.561000	0.74099	CCA		0.622	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		6	141	0	0	0	1	0	6	141					G	36357197	C	G	36357197	3	3	29	1	0	0	0	0	1	0	0	0	8334	623	22	5	1988	5	KIRREL2	19	36357197	Missense_Mutation	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	18413798	36357197	22771786	80	2854										
CYP2F1	1572	broad.mit.edu	37	chr19	41622201	41622201	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	ctgcctccgggacccagaccCctctcaatcctgggaaacct	8	18	1	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:41622201C>A	ENST00000331105.2	+	2	180	c.108C>A	c.(106-108)ccC>ccA	p.P36P		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	36					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GACCCAGACCCCTCTCAATCC	0.547																																						ENST00000331105.2																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(106-108)ccC>ccA		cytochrome P450, family 2, subfamily F, polypeptide 1							192	189	190					19																	41622201		2203	4300	6503	SO:0001819	synonymous_variant	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41622201C>A	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.108C>A	19.37:g.41622201C>A			Somatic					p.P36P	NM_000774.3	NP_000765.2	WXS	Illumina GAIIx	Phase_I	P24903	CP2F1_HUMAN			2	180	+			36					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	c.108C>A	CCDS12572.1																																																																																				0.547	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			100	247	1	0	1.21964e-59	1	1.44976e-59	100	247					A	41622201	C	A	41622201	2	1	29	1	0	0	0	0	0	0	0	1	4173	610	22	5		5	CYP2F1	19	41622201	Silent	SNP	C	TCGA-N8-A4PO-01A-11D-A28R-08	5265004	41622201	17506782	81	2855										
GPR4	2828	broad.mit.edu	37	chr19	46094975	46094975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	atcaggtagacgcccagctcGttgcgctgttgcacctggcg	13	13	1	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:46094975G>A	ENST00000323040.4	-	2	1094	c.150C>T	c.(148-150)aaC>aaT	p.N50N	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	50					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCGTTGCGCTGTT	0.617																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(148-150)aaC>aaT		G protein-coupled receptor 4							87	70	76					19																	46094975		2203	4300	6503	SO:0001819	synonymous_variant	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094975G>A	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.150C>T	19.37:g.46094975G>A			Somatic				OPA3_ENST00000544371.1_Intron	p.N50N	NM_005282.2	NP_005273.1	WXS	Illumina GAIIx	Phase_I	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1094	-			50					A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	c.150C>T	CCDS12669.1																																																																																				0.617	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		4	131	0	0	0	1	0	4	131					A	46094975	G	A	46094975	2	1	29	1	0	0	0	0	0	0	0	1	6702	1136	40	1		1	GPR4	19	46094975	Silent	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08	4472774	46094975	13034008	82	2856										
KIR3DL1	3811	broad.mit.edu	37	chr19	55331426	55331426	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	tgttactcacaccccctatcAgttgtcagctcccagtgatc	6	15	3	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:55331426A>T	ENST00000391728.4	+	4	647	c.614A>T	c.(613-615)cAg>cTg	p.Q205L	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.Q205L|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.Q205L|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.Q110L|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.Q205L|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.Q205L	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	205					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)		ACCCCCTATCAGTTGTCAGCT	0.522																																						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.(613-615)cAg>cTg		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							137	117	124					19																	55331426		2183	4143	6326	SO:0001583	missense	3811							g.chr19:55331426A>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.614A>T	19.37:g.55331426A>T	ENSP00000375608:p.Gln205Leu		Somatic				KIR3DL1_ENST00000538269.1_Missense_Mutation_p.Q205L|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.Q205L|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.Q205L|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.Q110L|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.Q205L	p.Q205L	NM_013289.2	NP_037421.2	WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(193;0.0192)	4	647	+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.614A>T	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	8.185	0.794672	0.16327	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.00664	5.92;5.92;5.92;5.92;5.92;5.92	1.44	1.44	0.22558	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.053180	0.03581	U	0.230236	T	0.00906	0.0030	N	0.20574	0.59	0.09310	N	1	B;B;P;B	0.44344	0.006;0.001;0.833;0.001	B;B;P;B	0.45232	0.003;0.006;0.474;0.001	T	0.47032	-0.9148	10	0.25106	T	0.35	.	5.0308	0.14409	1.0:0.0:0.0:0.0	.	205;110;205;205	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	L	205;205;205;183;205;205;110	ENSP00000384528:Q205L;ENSP00000443350:Q205L;ENSP00000442355:Q205L;ENSP00000375608:Q205L;ENSP00000326868:Q205L;ENSP00000350901:Q110L	ENSP00000326868:Q205L	Q	+	2	0	KIR3DL1	60023238	0.011000	0.17503	0.006000	0.13384	0.003000	0.03518	-0.190000	0.09615	0.939000	0.37446	0.155000	0.16302	CAG		0.522	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		27	173	0	0	0	1	0	27	173					T	55331426	A	T	55331426	3	4	29	1	0	0	0	0	1	0	0	0	8329	188	7	4	628	4	KIR3DL1	19	55331426	Missense_Mutation	SNP	A	TCGA-N8-A4PO-01A-11D-A28R-08	9236451	55331426	3797557	83	2857										
ZNF470	388566	broad.mit.edu	37	chr19	57089133	57089133	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	ctctgacagtacatcagagaAttcatacaggagagaaacct	8	9	3	3			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:57089133A>T	ENST00000330619.8	+	6	2022	c.1336A>T	c.(1336-1338)Att>Ttt	p.I446F	ZNF470_ENST00000391709.3_Missense_Mutation_p.I446F|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ACATCAGAGAATTCATACAGG	0.418																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1336-1338)Att>Ttt		zinc finger protein 470							80	83	82					19																	57089133		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089133A>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1336A>T	19.37:g.57089133A>T	ENSP00000333223:p.Ile446Phe		Somatic				ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.I446F	p.I446F	NM_001001668.3	NP_001001668.3	WXS	Illumina GAIIx	Phase_I	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2022	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	446					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1336A>T	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.307467	0.40795	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.00760	5.73;5.73	4.26	3.19	0.36642	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01661	0.0053	M	0.74647	2.275	0.22171	N	0.999316	P	0.48998	0.918	P	0.46629	0.522	T	0.47182	-0.9137	9	0.72032	D	0.01	.	5.0617	0.14560	0.7103:0.1796:0.1101:0.0	.	446	Q6ECI4	ZN470_HUMAN	F	446	ENSP00000375590:I446F;ENSP00000333223:I446F	ENSP00000333223:I446F	I	+	1	0	ZNF470	61780945	0.000000	0.05858	0.927000	0.36925	0.725000	0.41563	0.596000	0.24044	0.647000	0.30713	-0.417000	0.06048	ATT		0.418	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		5	109	0	0	0	1	0	5	109					T	57089133	A	T	57089133	3	4	29	1	0	0	0	0	1	0	0	0	17944	101	4	4	1350	4	ZNF470	19	57089133	Missense_Mutation	SNP	A	TCGA-N8-A4PO-01A-11D-A28R-08	1757707	57089133	2039850	84	2858										
CDH26	60437	broad.mit.edu	37	chr20	58571629	58571629	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	aacagaacaagatcctcatgAaacctctgatatgggtgagc	9	9	2	5			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr20:58571629A>C	ENST00000244047.5	+	13	2199				CDH26_ENST00000348616.4_Intron|CDH26_ENST00000350849.6_Missense_Mutation_p.K2Q|CDH26_ENST00000244049.3_Missense_Mutation_p.K2Q|CDH26_ENST00000497614.1_Intron			Q8IXH8	CAD26_HUMAN	cadherin 26						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GATCCTCATGAAACCTCTGAT	0.413																																						ENST00000350849.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(4-6)Aaa>Caa		cadherin 26							253	224	234					20																	58571629		2203	4300	6503	SO:0001627	intron_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58571629A>C	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1889-57A>C	20.37:g.58571629A>C			Somatic				CDH26_ENST00000244049.3_Missense_Mutation_p.K2Q|CDH26_ENST00000348616.4_Intron|CDH26_ENST00000497614.1_Intron|CDH26_ENST00000244047.5_Intron	p.K2Q	NM_021810.4	NP_068582.2	WXS	Illumina GAIIx	Phase_I	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		1	201	+	all_lung(29;0.00963)		0					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.4A>C		.	.	.	.	.	.	.	.	.	.	A	8.427	0.847731	0.17034	.	.	ENSG00000124215	ENST00000244049;ENST00000350849;ENST00000456106	.	.	.	3.59	-2.25	0.06888	.	.	.	.	.	T	0.22282	0.0537	.	.	.	0.09310	N	1	P;B	0.36712	0.566;0.395	B;B	0.33121	0.158;0.158	T	0.13575	-1.0504	7	0.87932	D	0	.	4.516	0.11935	0.5104:0.1655:0.324:0.0	.	2;2	Q8IXH8-5;Q8IXH8-2	.;.	Q	2	.	ENSP00000244049:K2Q	K	+	1	0	CDH26	58005024	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.813000	0.04491	-0.597000	0.05813	-0.313000	0.08912	AAA		0.413	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		5	153	0	0	0	1	0	5	153					C	58571629	A	C	58571629	1	2	29	0	1	0	0	0	0	0	0	0	3112	247	9	4		4	CDH26	20	58571629	Intron	SNP	A	TCGA-N8-A4PO-01A-11D-A28R-08		58571629	4453891	85	2859										
PRDM15	63977	broad.mit.edu	37	chr21	43243763	43243763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	ggtgtacttcttgtcgccgtGggtgagcaggtgcttgttca	15	8	2	1			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr21:43243763G>A	ENST00000269844.3	-	21	2880	c.2770C>T	c.(2770-2772)Cac>Tac	p.H924Y	PRDM15_ENST00000422911.1_Missense_Mutation_p.H615Y|PRDM15_ENST00000398548.1_Missense_Mutation_p.H595Y|PRDM15_ENST00000447207.2_Missense_Mutation_p.H558Y|PRDM15_ENST00000538201.1_Missense_Mutation_p.H578Y	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	924					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						TTGTCGCCGTGGGTGAGCAGG	0.607																																						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.(1843-1845)Cac>Tac		PR domain containing 15							88	64	72					21																	43243763		2198	4287	6485	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43243763G>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.2770C>T	21.37:g.43243763G>A	ENSP00000269844:p.His924Tyr		Somatic				PRDM15_ENST00000538201.1_Missense_Mutation_p.H578Y|PRDM15_ENST00000398548.1_Missense_Mutation_p.H595Y|PRDM15_ENST00000269844.3_Missense_Mutation_p.H924Y|PRDM15_ENST00000447207.2_Missense_Mutation_p.H558Y	p.H615Y			WXS	Illumina GAIIx	Phase_I	P57071	PRD15_HUMAN			15	1944	-			924					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.1843C>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	g	29.0	4.972263	0.92919	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	4.99	4.99	0.66335	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91168	0.7218	M	0.79475	2.455	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.83275	0.996;0.992;0.996	D	0.92281	0.5833	9	0.87932	D	0	-35.6435	17.6069	0.88040	0.0:0.0:1.0:0.0	.	924;615;595	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Y	615;595;578;558;924	ENSP00000408592:H615Y;ENSP00000381556:H595Y;ENSP00000444044:H578Y;ENSP00000390245:H558Y;ENSP00000269844:H924Y	ENSP00000269844:H924Y	H	-	1	0	PRDM15	42116832	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.412000	0.97347	2.470000	0.83445	0.556000	0.70494	CAC		0.607	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		4	8	0	0	0	1	0	4	8					A	43243763	G	A	43243763	3	1	29	1	0	0	0	0	1	0	0	0	12468	1348	47	3	1797	3	PRDM15	21	43243763	Missense_Mutation	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08		43243763	4886132	86	2860										
OGT	8473	broad.mit.edu	37	chrX	70784520	70784520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0114942528735632	1	1	0.152205882352941	0	0.199038461538462	1	1	0	taaccacccgttctcagtacGggttaccagaagatgccatc	8	13	1	2			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chrX:70784520G>A	ENST00000373719.3	+	19	2723	c.2506G>A	c.(2506-2508)Ggg>Agg	p.G836R	OGT_ENST00000373701.3_Missense_Mutation_p.G826R	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	836					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)			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)					TTCTCAGTACGGGTTACCAGA	0.398																																						ENST00000373719.3																			0				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.(2506-2508)Ggg>Agg		O-linked N-acetylglucosamine (GlcNAc) transferase							129	105	113					X																	70784520		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:70784520G>A	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.2506G>A	X.37:g.70784520G>A	ENSP00000362824:p.Gly836Arg		Somatic				OGT_ENST00000373701.3_Missense_Mutation_p.G826R	p.G836R	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	WXS	Illumina GAIIx	Phase_I	O15294	OGT1_HUMAN			19	2723	+	Renal(35;0.156)		836					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.2506G>A	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209146	0.39003	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.16897	2.31;2.31	5.15	5.15	0.70609	.	0.096996	0.64402	D	0.000001	T	0.27731	0.0682	M	0.79693	2.465	0.80722	D	1	P;B;P	0.40431	0.713;0.327;0.717	B;B;B	0.38296	0.182;0.044;0.27	T	0.18903	-1.0322	10	0.59425	D	0.04	.	18.0587	0.89370	0.0:0.0:1.0:0.0	.	710;826;836	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	R	836;826	ENSP00000362824:G836R;ENSP00000362805:G826R	ENSP00000362805:G826R	G	+	1	0	OGT	70701245	1.000000	0.71417	0.966000	0.40874	0.042000	0.13812	9.778000	0.99011	2.288000	0.76882	0.544000	0.68410	GGG		0.398	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		12	16	0	0	0	1	0	12	16					A	70784520	G	A	70784520	3	1	29	1	0	0	0	0	1	0	0	0	10856	1116	39	1	2580	1	OGT	23	70784520	Missense_Mutation	SNP	G	TCGA-N8-A4PO-01A-11D-A28R-08		70784520	84486040	87	2861										
CELA2B	51032	broad.mit.edu	37	chr1	15812530	15812530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ctgggggtgatggcgtgataTgcacctgcaacgtgagtacc	15	9	0	3			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:15812530T>C	ENST00000375910.3	+	6	653	c.628T>C	c.(628-630)Tgc>Cgc	p.C210R		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	210	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						TGGCGTGATATGCACCTGCAA	0.562																																						ENST00000375910.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(628-630)Tgc>Cgc		chymotrypsin-like elastase family, member 2B							164	163	163					1																	15812530		2203	4300	6503	SO:0001583	missense	51032				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15812530T>C		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"pancreatic elastase IIB"	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.628T>C	1.37:g.15812530T>C	ENSP00000365075:p.Cys210Arg		Somatic					p.C210R	NM_015849.2	NP_056933.2	WXS	Illumina GAIIx	Phase_I	P08218	CEL2B_HUMAN			6	653	+			210			Peptidase S1.		Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	c.628T>C	CCDS30605.1	.	.	.	.	.	.	.	.	.	.	T	4.091	0.014874	0.07959	.	.	ENSG00000215704	ENST00000375910	D	0.92495	-3.05	4.25	0.127	0.14727	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.108239	0.40554	U	0.001062	T	0.77519	0.4142	N	0.01874	-0.695	0.39421	D	0.966918	B	0.13594	0.008	B	0.14023	0.01	T	0.65936	-0.6047	10	0.87932	D	0	.	9.8845	0.41253	0.0:0.0:0.5332:0.4668	.	210	P08218	CEL2B_HUMAN	R	210	ENSP00000365075:C210R	ENSP00000365075:C210R	C	+	1	0	CELA2B	15685117	1.000000	0.71417	0.121000	0.21740	0.001000	0.01503	2.806000	0.47947	-0.193000	0.10415	-0.703000	0.03666	TGC		0.562	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		55	173	0	0	0	1	0	55	173					C	15812530	T	C	15812530	3	2	30	1	0	0	0	0	1	0	0	0	3214	1464	51	4	650	4	CELA2B	1	15812530	Missense_Mutation	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08		15812530	233438091	1	2862										
CLCNKA	1187	broad.mit.edu	37	chr1	16356552	16356552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ttaccaatcccatcatgcccGgggggtatgctctggcaggt	12	12	2	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:16356552G>A	ENST00000331433.4	+	14	1409	c.1390G>A	c.(1390-1392)Ggg>Agg	p.G464R	CLCNKA_ENST00000420078.1_Missense_Mutation_p.G464R|CLCNKA_ENST00000375692.1_Missense_Mutation_p.G464R|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G421R			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	464					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.Y466fs*25(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CATCATGCCCGGGGGGTATGC	0.657																																						ENST00000375692.1																			1	Insertion - Frameshift(1)	p.Y466fs*25(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1390-1392)Ggg>Agg		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						44	39	40					1																	16356552		2203	4299	6502	SO:0001583	missense	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16356552G>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"Ion channels / Chloride channels : Voltage-sensitive"	2026	protein-coding gene	gene with protein product		602024	"chloride channel Ka"			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1390G>A	1.37:g.16356552G>A	ENSP00000332771:p.Gly464Arg		Somatic				CLCNKA_ENST00000420078.1_Missense_Mutation_p.G464R|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G421R|CLCNKA_ENST00000331433.4_Missense_Mutation_p.G464R	p.G464R			WXS	Illumina GAIIx	Phase_I	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	15	1518	+		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)	464					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.1390G>A	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735735	0.49045	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63	3.3	3.3	0.37823	Chloride channel, core (2);	0.168039	0.52532	D	0.000070	D	0.97321	0.9124	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.999	D	0.97752	1.0215	10	0.87932	D	0	.	12.4254	0.55544	0.0:0.0:1.0:0.0	.	200;421;464;464	B4DE56;E7EPH6;Q5T5Q4;P51800	.;.;.;CLCKA_HUMAN	R	464;464;421;464	ENSP00000364844:G464R;ENSP00000410353:G464R;ENSP00000414445:G421R;ENSP00000332771:G464R	ENSP00000332771:G464R	G	+	1	0	CLCNKA	16229139	1.000000	0.71417	0.239000	0.24122	0.003000	0.03518	7.358000	0.79466	1.821000	0.53095	0.313000	0.20887	GGG		0.657	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			4	38	0	0	0	1	0	4	38					A	16356552	G	A	16356552	3	1	30	1	0	0	0	0	1	0	0	0	3471	1116	39	1	1440	1	CLCNKA	1	16356552	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	544022	16356552	232894069	2	2863										
WNT4	54361	broad.mit.edu	37	chr1	22456324	22456324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	cctctgagatgctccccaccGacgacagcttggccaggtac	10	16	1	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:22456324G>A	ENST00000290167.6	-	2	141	c.98C>T	c.(97-99)tCg>tTg	p.S33L	WNT4_ENST00000542383.1_5'UTR	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	33					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GCTCCCCACCGACGACAGCTT	0.627																																						ENST00000290167.6																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8						c.(97-99)tCg>tTg		wingless-type MMTV integration site family, member 4							145	140	141					1																	22456324		2203	4300	6503	SO:0001583	missense	54361				adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity	g.chr1:22456324G>A	AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"Wingless-type MMTV integration sites", "Endogenous ligands"	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.98C>T	1.37:g.22456324G>A	ENSP00000290167:p.Ser33Leu		Somatic				WNT4_ENST00000542383.1_5'UTR	p.S33L	NM_030761.4	NP_110388.2	WXS	Illumina GAIIx	Phase_I	P56705	WNT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	2	141	-		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	33					B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Missense_Mutation	SNP	ENST00000290167.6	37	c.98C>T	CCDS223.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821611	0.90873	.	.	ENSG00000162552	ENST00000290167;ENST00000374655	T	0.77358	-1.09	5.22	5.22	0.72569	.	0.751807	0.12807	N	0.437493	T	0.73682	0.3618	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	P	0.54499	0.754	T	0.77723	-0.2481	10	0.56958	D	0.05	.	17.3419	0.87299	0.0:0.0:1.0:0.0	.	33	P56705	WNT4_HUMAN	L	33	ENSP00000290167:S33L	ENSP00000290167:S33L	S	-	2	0	WNT4	22328911	1.000000	0.71417	0.141000	0.22245	0.750000	0.42670	7.676000	0.84012	2.429000	0.82318	0.561000	0.74099	TCG		0.627	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2			40	174	0	0	0	1	0	40	174					A	22456324	G	A	22456324	3	1	30	1	0	0	0	0	1	0	0	0	17405	1059	37	1	973	1	WNT4	1	22456324	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	6099772	22456324	226794297	3	2864										
PAQR7	164091	broad.mit.edu	37	chr1	26190027	26190027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gaagaggggcagggcgtgtgGgtctccccagaagtccacgg	18	10	1	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:26190027G>T	ENST00000374296.3	-	2	970	c.304C>A	c.(304-306)Cca>Aca	p.P102T	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	102					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCGTGTGGGTCTCCCCAG	0.612																																					Esophageal Squamous(111;1206 1556 18433 19151 38418)	ENST00000374296.3																			0				breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(304-306)Cca>Aca		progestin and adipoQ receptor family member VII							50	54	53					1																	26190027		2203	4300	6503	SO:0001583	missense	164091				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr1:26190027G>T		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"membrane progestin receptor alpha"	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.304C>A	1.37:g.26190027G>T	ENSP00000363414:p.Pro102Thr		Somatic					p.P102T	NM_178422.5	NP_848509.1	WXS	Illumina GAIIx	Phase_I	Q86WK9	MPRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)	2	970	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	102					A2A2D3|Q5XKF9|Q86VE4	Missense_Mutation	SNP	ENST00000374296.3	37	c.304C>A	CCDS267.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642257	0.47153	.	.	ENSG00000182749	ENST00000374296	T	0.27720	1.65	4.75	2.8	0.32819	.	0.062735	0.64402	N	0.000003	T	0.42314	0.1197	L	0.53249	1.67	0.42364	D	0.992423	D	0.76494	0.999	D	0.68765	0.96	T	0.20773	-1.0265	10	0.20519	T	0.43	-8.9399	8.6452	0.34000	0.0:0.1488:0.5442:0.307	.	102	Q86WK9	MPRA_HUMAN	T	102	ENSP00000363414:P102T	ENSP00000363414:P102T	P	-	1	0	PAQR7	26062614	1.000000	0.71417	0.944000	0.38274	0.959000	0.62525	4.108000	0.57817	0.671000	0.31185	0.655000	0.94253	CCA		0.612	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422		22	93	1	0	3.62473e-10	1	3.93072e-10	22	93					T	26190027	G	T	26190027	3	4	30	1	0	0	0	0	1	0	0	0	11449	1232	43	5	740	5	PAQR7	1	26190027	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	3733703	26190027	223060594	4	2865										
HIVEP3	59269	broad.mit.edu	37	chr1	42050036	42050036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gatggaagcgtgggaaggaaGgagctggctctgaggatgga	20	4	1	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:42050036G>A	ENST00000372583.1	-	4	1318	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F	HIVEP3_ENST00000372584.1_Missense_Mutation_p.L145F|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L145F|HIVEP3_ENST00000429157.2_Missense_Mutation_p.L145F	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	145					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)				TGGGAAGGAAGGAGCTGGCTC	0.612																																						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.(433-435)Ctt>Ttt		human immunodeficiency virus type I enhancer binding protein 3							86	92	90					1																	42050036		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050036G>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.433C>T	1.37:g.42050036G>A	ENSP00000361664:p.Leu145Phe		Somatic				HIVEP3_ENST00000429157.2_Missense_Mutation_p.L145F|HIVEP3_ENST00000372583.1_Missense_Mutation_p.L145F|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L145F	p.L145F	NM_001127714.2	NP_001121186.1	WXS	Illumina GAIIx	Phase_I	Q5T1R4	ZEP3_HUMAN			3	1447	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	145					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.433C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286146	0.40394	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.08282	3.12;3.11;3.11;3.12	4.81	4.81	0.61882	.	0.000000	0.44097	D	0.000486	T	0.13457	0.0326	L	0.27053	0.805	0.31163	N	0.704147	D;D	0.76494	0.998;0.999	D;D	0.75484	0.984;0.986	T	0.04840	-1.0923	10	0.28530	T	0.3	-5.963	7.3906	0.26907	0.1464:0.0:0.8536:0.0	.	145;145	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	F	145	ENSP00000361665:L145F;ENSP00000361664:L145F;ENSP00000247584:L145F;ENSP00000410828:L145F	ENSP00000247584:L145F	L	-	1	0	HIVEP3	41822623	1.000000	0.71417	0.998000	0.56505	0.690000	0.40134	1.198000	0.32223	2.484000	0.83849	0.563000	0.77884	CTT		0.612	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		40	177	0	0	0	1	0	40	177					A	42050036	G	A	42050036	3	1	30	1	0	0	0	0	1	0	0	0	7197	1000	35	3	6811	3	HIVEP3	1	42050036	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	15860009	42050036	207200585	5	2866										
EPS15	2060	broad.mit.edu	37	chr1	51868137	51868137	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	aggatcagactggaaaaaatCcaagtttgtatctgcaactg	9	7	2	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:51868137C>A	ENST00000371733.3	-	18	1948	c.1852G>T	c.(1852-1854)Gat>Tat	p.D618Y	EPS15_ENST00000493793.1_5'Flank|EPS15_ENST00000396122.4_Missense_Mutation_p.D295Y|EPS15_ENST00000371730.2_Missense_Mutation_p.D484Y	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	618	15 X 3 AA repeats of D-P-F.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TGGAAAAAATCCAAGTTTGTA	0.269			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.(1852-1854)Gat>Tat		epidermal growth factor receptor pathway substrate 15							62	66	65					1																	51868137		2203	4298	6501	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51868137C>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.1852G>T	1.37:g.51868137C>A	ENSP00000360798:p.Asp618Tyr		Somatic				EPS15_ENST00000371730.2_Missense_Mutation_p.D484Y|EPS15_ENST00000396122.4_Missense_Mutation_p.D295Y	p.D618Y	NM_001981.2	NP_001972.1	WXS	Illumina GAIIx	Phase_I	P42566	EPS15_HUMAN			18	1948	-			618			15 X 3 AA repeats of D-P-F.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.1852G>T	CCDS557.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212168	0.58452	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.18502	2.21;2.21;2.21	5.96	5.04	0.67666	.	.	.	.	.	T	0.20251	0.0487	M	0.68952	2.095	0.80722	D	1	P;B;B	0.39480	0.675;0.321;0.057	B;B;B	0.31191	0.111;0.125;0.06	T	0.04140	-1.0974	9	0.72032	D	0.01	.	16.7637	0.85519	0.1298:0.8702:0.0:0.0	.	484;618;304	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	Y	484;618;295	ENSP00000360795:D484Y;ENSP00000360798:D618Y;ENSP00000379428:D295Y	ENSP00000360795:D484Y	D	-	1	0	EPS15	51640725	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.702000	0.61817	1.505000	0.48720	0.585000	0.79938	GAT		0.269	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		22	88	1	0	7.16444e-05	1	7.52491e-05	22	88					A	51868137	C	A	51868137	3	1	30	1	0	0	0	0	1	0	0	0	5194	855	30	2	870	2	EPS15	1	51868137	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	9818101	51868137	197382484	6	2867										
C1orf87	127795	broad.mit.edu	37	chr1	60520989	60520989	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	cacatcatctggattatcagTggtttgctgatcagtgaagt	10	7	4	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:60520989T>C	ENST00000371201.3	-	3	336	c.229A>G	c.(229-231)Act>Gct	p.T77A	C1orf87_ENST00000450089.2_Missense_Mutation_p.T77A	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	77							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						GGATTATCAGTGGTTTGCTGA	0.423																																					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.(229-231)Act>Gct		chromosome 1 open reading frame 87							375	333	348					1																	60520989		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60520989T>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.229A>G	1.37:g.60520989T>C	ENSP00000360244:p.Thr77Ala		Somatic				C1orf87_ENST00000450089.2_Missense_Mutation_p.T77A	p.T77A	NM_152377.2	NP_689590.1	WXS	Illumina GAIIx	Phase_I	Q8N0U7	CA087_HUMAN			3	336	-			77					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.229A>G	CCDS614.1	.	.	.	.	.	.	.	.	.	.	T	9.734	1.163039	0.21538	.	.	ENSG00000162598	ENST00000371201;ENST00000450089	T	0.17370	2.28	4.92	2.57	0.30868	.	0.710534	0.12831	N	0.435647	T	0.08492	0.0211	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41502	-0.9505	10	0.15499	T	0.54	-0.0281	6.2079	0.20613	0.0:0.2123:0.0:0.7877	.	77	Q8N0U7	CA087_HUMAN	A	77	ENSP00000360244:T77A	ENSP00000360244:T77A	T	-	1	0	C1orf87	60293577	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	0.586000	0.23894	0.437000	0.26423	0.482000	0.46254	ACT		0.423	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		46	136	0	0	0	1	0	46	136					C	60520989	T	C	60520989	3	2	30	1	0	0	0	0	1	0	0	0	2066	1696	59	4	1451	4	C1orf87	1	60520989	Missense_Mutation	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08	8652852	60520989	188729632	7	2868										
ADAM30	11085	broad.mit.edu	37	chr1	120438214	120438234	+	In_Frame_Del	DEL	TGTATCCTCATACGAACATCT	TGTATCCTCATACGAACATCT	-													0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	atacttcaagagcctttaagTgtatcctcatacgaacatct					rs371890150		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:120438214_120438234delTGTATCCTCATACGAACATCT	ENST00000369400.1	-	1	884_904	c.726_746delAGATGTTCGTATGAGGATACA	c.(724-747)caagatgttcgtatgaggatacac>cac	p.QDVRMRI242del		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	242	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AGCCTTTAAGTGTATCCTCATACGAACATCTTGAAAGTAGG	0.344																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(724-747)cac>ca		ADAM metallopeptidase domain 30																																				SO:0001651	inframe_deletion	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438214_120438234delTGTATCCTCATACGAACATCT	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.726_746delAGATGTTCGTATGAGGATACA	1.37:g.120438214_120438234delTGTATCCTCATACGAACATCT	ENSP00000358407:p.Gln242_Ile248del		Somatic					p.QDVRMRIH242del	NM_021794.3	NP_068566.2	WXS	Illumina GAIIx	Phase_I	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	884_904	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	242			Peptidase M12B.		A8K8W8|Q5T3X6|Q9UKF1	In_Frame_Del	DEL	ENST00000369400.1	37	c.726_746delAGATGTTCGTATGAGGATACA	CCDS907.1																																																																																				0.344	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		7	46						7	46	---	---	---	---	-	120438234	TGTATCCTCATACGAACATCT	-	120438214	7	5	30	1	0	1	0	1	0	0	0	0	248	1696	59	0	1630	0	ADAM30	1	120438214	In_Frame_Del	DEL	TGTATCCTCATACGAACATCT	TCGA-N8-A4PP-01A-11D-A28R-08	59917225	120438214	128812407	8	2869										
VPS72	6944	broad.mit.edu	37	chr1	151156886	151156886	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	acagtggggcccctttcgccGtcttgactggccctgcctct	11	16	2	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:151156886G>C	ENST00000354473.4	-	4	505	c.469C>G	c.(469-471)Cgg>Ggg	p.R157G	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	157					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	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)			CCCTTTCGCCGTCTTGACTGG	0.557																																					Pancreas(109;1131 2287 3209 24201)	ENST00000354473.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(469-471)Cgg>Ggg		vacuolar protein sorting 72 homolog (S. cerevisiae)							90	93	92					1																	151156886		2203	4300	6503	SO:0001583	missense	6944				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:151156886G>C	D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"transcription factor-like 1", "vacuolar protein sorting 72 (yeast)"	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.469C>G	1.37:g.151156886G>C	ENSP00000346464:p.Arg157Gly		Somatic				VPS72_ENST00000496809.1_5'UTR	p.R157G	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	WXS	Illumina GAIIx	Phase_I	Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		4	505	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		157					A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Missense_Mutation	SNP	ENST00000354473.4	37	c.469C>G	CCDS59201.1	.	.	.	.	.	.	.	.	.	.	.	13.71	2.319782	0.41096	.	.	ENSG00000163159	ENST00000368892;ENST00000354473	.	.	.	6.16	0.615	0.17608	.	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	M	0.74647	2.275	0.58432	D	0.999996	B	0.15719	0.014	B	0.15484	0.013	T	0.44651	-0.9314	9	0.38643	T	0.18	-1.3249	12.438	0.55610	0.0:0.1054:0.3303:0.5643	.	157	Q15906	VPS72_HUMAN	G	157	.	ENSP00000346464:R157G	R	-	1	2	VPS72	149423510	1.000000	0.71417	0.966000	0.40874	0.620000	0.37586	1.731000	0.38135	0.118000	0.18165	-0.188000	0.12872	CGG		0.557	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000034394.3	NM_005997		19	338	0	0	0	1	0	19	338					C	151156886	G	C	151156886	3	2	30	1	0	0	0	0	1	0	0	0	17232	1144	40	5	637	5	VPS72	1	151156886	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	30718672	151156886	98093735	9	2870										
HRNR	388697	broad.mit.edu	37	chr1	152191669	152191669	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tgcccaaaaccagaagcctgGcctgagccagactcataatg	9	13	1	3			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:152191669G>A	ENST00000368801.2	-	3	2511	c.2436C>T	c.(2434-2436)ggC>ggT	p.G812G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	812					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)			CAGAAGCCTGGCCTGAGCCAG	0.572																																						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.(2434-2436)ggC>ggT		hornerin							65	71	69					1																	152191669		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191669G>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.2436C>T	1.37:g.152191669G>A			Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G812G	NM_001009931.1	NP_001009931.1	WXS	Illumina GAIIx	Phase_I	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2511	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		812					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.2436C>T	CCDS30859.1																																																																																				0.572	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		35	230	0	0	0	1	0	35	230					A	152191669	G	A	152191669	2	1	30	1	0	0	0	0	0	0	0	1	7368	1190	42	3		3	HRNR	1	152191669	Silent	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	1034783	152191669	97058952	10	2871										
KPRP	448834	broad.mit.edu	37	chr1	152733337	152733337	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	cacgcccgcgtcctctaccaCgacaactttcagaaccttgt	6	17	2	1	rs375076533		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:152733337C>T	ENST00000606109.1	+	1	1301	c.1273C>T	c.(1273-1275)Cga>Tga	p.R425*	KPRP_ENST00000368773.1_Nonsense_Mutation_p.R425*			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	425	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R425*(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCTACCACGACAACTTTC	0.577																																						ENST00000368773.1																			1	Substitution - Nonsense(1)	p.R425*(1)	prostate(1)	NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1273-1275)Cga>Tga		keratinocyte proline-rich protein							185	193	191					1																	152733337		2203	4300	6503	SO:0001587	stop_gained	448834					cytoplasm		g.chr1:152733337C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1273C>T	1.37:g.152733337C>T	ENSP00000475216:p.Arg425*		Somatic				KPRP_ENST00000606109.1_Nonsense_Mutation_p.R425*	p.R425*	NM_001025231.1	NP_001020402.1	WXS	Illumina GAIIx	Phase_I	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1331	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		425			Pro-rich.			Nonsense_Mutation	SNP	ENST00000606109.1	37	c.1273C>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803517	0.70682	.	.	ENSG00000203786	ENST00000368773	.	.	.	4.88	-0.933	0.10431	.	0.150400	0.30695	N	0.009069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.1198	10.2759	0.43510	0.634:0.2465:0.1195:0.0	.	.	.	.	X	425	.	ENSP00000357762:R425X	R	+	1	2	KPRP	150999961	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.431000	0.02432	-0.222000	0.09958	-0.704000	0.03662	CGA		0.577	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		121	265	0	0	0	1	0	121	265					T	152733337	C	T	152733337	4	4	30	1	0	0	0	0	0	1	0	0	8445	528	19	1	1275	1	KPRP	1	152733337	Nonsense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	541668	152733337	96517284	11	2872										
LCE1A	353131	broad.mit.edu	37	chr1	152799971	152799971	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gtcctgccagcagagccagcAgcagtgccagccccctccca	10	19	0	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:152799971A>G	ENST00000335123.2	+	1	23	c.23A>G	c.(22-24)cAg>cGg	p.Q8R		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	8	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGCCAGCAGCAGTGCCAG	0.617																																						ENST00000335123.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8						c.(22-24)cAg>cGg		late cornified envelope 1A							51	62	58					1																	152799971		2203	4300	6503	SO:0001583	missense	353131				keratinization			g.chr1:152799971A>G		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.23A>G	1.37:g.152799971A>G	ENSP00000334869:p.Gln8Arg		Somatic					p.Q8R	NM_178348.2	NP_848125.1	WXS	Illumina GAIIx	Phase_I	Q5T7P2	LCE1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	23	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		8			Cys-rich.			Missense_Mutation	SNP	ENST00000335123.2	37	c.23A>G	CCDS1028.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.405217	0.25378	.	.	ENSG00000186844	ENST00000368766;ENST00000335123	T;T	0.03772	3.81;3.81	4.18	1.66	0.24008	.	0.000000	0.33753	N	0.004599	T	0.05777	0.0151	M	0.84948	2.725	0.22610	N	0.998934	D	0.56968	0.978	P	0.50754	0.649	T	0.10660	-1.0620	10	0.87932	D	0	.	8.3146	0.32093	0.6055:0.3945:0.0:0.0	.	8	Q5T7P2	LCE1A_HUMAN	R	8	ENSP00000357755:Q8R;ENSP00000334869:Q8R	ENSP00000334869:Q8R	Q	+	2	0	LCE1A	151066595	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.727000	0.47311	0.202000	0.20498	0.460000	0.39030	CAG		0.617	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		20	319	0	0	0	1	0	20	319					G	152799971	A	G	152799971	3	3	30	1	0	0	0	0	1	0	0	0	8668	188	7	4	25	4	LCE1A	1	152799971	Missense_Mutation	SNP	A	TCGA-N8-A4PP-01A-11D-A28R-08	66634	152799971	96450650	12	2873										
NPR1	4881	broad.mit.edu	37	chr1	153659705	153659705	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tttctacacaatggggctatCtgttcccatgggaacctcaa	8	11	3	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:153659705C>G	ENST00000368680.3	+	13	2437	c.1965C>G	c.(1963-1965)atC>atG	p.I655M		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	655	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ATGGGGCTATCTGTTCCCATG	0.562																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1963-1965)atC>atG		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						138	122	127					1																	153659705		2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153659705C>G	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1965C>G	1.37:g.153659705C>G	ENSP00000357669:p.Ile655Met		Somatic					p.I655M	NM_000906.3	NP_000897.3	WXS	Illumina GAIIx	Phase_I	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		13	2437	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		655			Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.1965C>G	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214129	0.39102	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.61980	0.06	4.43	2.08	0.27032	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	M	0.86178	2.8	0.80722	D	1	P;P	0.51351	0.925;0.944	P;D	0.62955	0.803;0.909	T	0.68678	-0.5345	10	0.72032	D	0.01	.	6.36	0.21422	0.0:0.2387:0.0:0.7613	.	134;655	B7Z4Y7;P16066	.;ANPRA_HUMAN	M	655;134	ENSP00000357669:I655M	ENSP00000357669:I655M	I	+	3	3	NPR1	151926329	0.281000	0.24258	1.000000	0.80357	0.710000	0.40934	-0.185000	0.09684	0.329000	0.23460	-0.391000	0.06502	ATC		0.562	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		58	137	0	0	0	1	0	58	137					G	153659705	C	G	153659705	3	3	30	1	0	0	0	0	1	0	0	0	10603	903	32	2	2015	2	NPR1	1	153659705	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	859734	153659705	95590916	13	2874										
NPR1	4881	broad.mit.edu	37	chr1	153660533	153660533	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tacccccccaatacagagatCatcgagcgggtgactcgggg	12	13	1	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:153660533C>A	ENST00000368680.3	+	15	2725	c.2253C>A	c.(2251-2253)atC>atA	p.I751I		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	751	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ATACAGAGATCATCGAGCGGG	0.657																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2251-2253)atC>atA		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						40	41	41					1																	153660533		2203	4299	6502	SO:0001819	synonymous_variant	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153660533C>A	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2253C>A	1.37:g.153660533C>A			Somatic					p.I751I	NM_000906.3	NP_000897.3	WXS	Illumina GAIIx	Phase_I	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		15	2725	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		751			Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	c.2253C>A	CCDS1051.1																																																																																				0.657	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		62	108	1	0	3.07281e-33	1	3.6138e-33	62	108					A	153660533	C	A	153660533	2	1	30	1	0	0	0	0	0	0	0	1	10603	816	29	2		2	NPR1	1	153660533	Silent	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	828	153660533	95590088	14	2875										
C1orf66	51093	broad.mit.edu	37	chr1	156702121	156702121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ctggccctgaagtccacggcGtgtgccctggcctttacccg	12	16	0	1	rs548109086		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:156702121G>A	ENST00000368216.4	+	3	915	c.285G>A	c.(283-285)gcG>gcA	p.A95A	RRNAD1_ENST00000368218.4_Silent_p.A95A|RRNAD1_ENST00000524343.1_Missense_Mutation_p.V54M|RRNAD1_ENST00000476229.1_5'UTR	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	95						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						AGTCCACGGCGTGTGCCCTGG	0.592													G|||	1	0.000199681	0	0	5008	,	,		17069	0		0	False		,,,				2504	0.001					ENST00000524343.1																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(160-162)Gtg>Atg		ribosomal RNA adenine dimethylase domain containing 1							57	61	60					1																	156702121		2203	4300	6503	SO:0001819	synonymous_variant	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156702121G>A	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 66"	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.285G>A	1.37:g.156702121G>A			Somatic				RRNAD1_ENST00000368218.4_Silent_p.A95A|RRNAD1_ENST00000476229.1_5'UTR|RRNAD1_ENST00000368216.4_Silent_p.A95A	p.V54M			WXS	Illumina GAIIx	Phase_I	Q96FB5	RRNAD_HUMAN			2	305	+			0					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	c.160G>A	CCDS1154.1	.	.	.	.	.	.	.	.	.	.	G	1.720	-0.496822	0.04291	.	.	ENSG00000143303	ENST00000524343	.	.	.	4.63	1.72	0.24424	.	.	.	.	.	T	0.35711	0.0941	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36016	-0.9765	5	0.56958	D	0.05	-13.9837	2.1208	0.03725	0.1579:0.509:0.1548:0.1782	.	.	.	.	M	54	.	ENSP00000429389:V54M	V	+	1	0	RRNAD1	154968745	0.013000	0.17824	0.523000	0.27875	0.162000	0.22319	-0.752000	0.04797	0.192000	0.20272	-0.228000	0.12330	GTG		0.592	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		17	48	0	0	0	1	0	17	48					A	156702121	G	A	156702121	2	1	30	1	0	0	0	0	0	0	0	1	2058	1132	40	1		1	C1orf66	1	156702121	Silent	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	3041588	156702121	92548500	15	2876										
OR10Z1	128368	broad.mit.edu	37	chr1	158576730	158576730	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tagttattttccacctctcaTtctgcagctcccatgaaatc	4	13	2	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:158576730T>G	ENST00000361284.1	+	1	502	c.502T>G	c.(502-504)Ttc>Gtc	p.F168V		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCACCTCTCATTCTGCAGCTC	0.498																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(502-504)Ttc>Gtc		olfactory receptor, family 10, subfamily Z, member 1							114	106	109					1																	158576730		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576730T>G	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.502T>G	1.37:g.158576730T>G	ENSP00000354707:p.Phe168Val		Somatic					p.F168V	NM_001004478.1	NP_001004478.1	WXS	Illumina GAIIx	Phase_I	Q8NGY1	O10Z1_HUMAN			1	502	+	all_hematologic(112;0.0378)		168					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.502T>G	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.200503	0.58126	.	.	ENSG00000198967	ENST00000539185;ENST00000361284	T	0.00145	8.67	5.36	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000604	T	0.00300	0.0009	M	0.94101	3.495	0.22639	N	0.9989	D	0.89917	1.0	D	0.80764	0.994	T	0.12116	-1.0560	10	0.87932	D	0	.	10.5606	0.45144	0.0:0.0769:0.0:0.9231	.	168	Q8NGY1	O10Z1_HUMAN	V	8;168	ENSP00000354707:F168V	ENSP00000354707:F168V	F	+	1	0	OR10Z1	156843354	0.018000	0.18449	0.740000	0.30986	0.864000	0.49448	1.994000	0.40757	1.044000	0.40200	0.533000	0.62120	TTC		0.498	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		27	107	0	0	0	1	0	27	107					G	158576730	T	G	158576730	3	3	30	1	0	0	0	0	1	0	0	0	10932	1493	52	4	504	4	OR10Z1	1	158576730	Missense_Mutation	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08	1874609	158576730	90673891	16	2877										
GPR52	9293	broad.mit.edu	37	chr1	174417869	174417872	+	Frame_Shift_Del	DEL	TTGT	TTGT	-													0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tgcctattttactggctttaTtgtttgtttactttatgctc							TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:174417869_174417872delTTGT	ENST00000367685.2	+	1	658_661	c.620_623delTTGT	c.(619-624)attgttfs	p.IV207fs	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	207					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						ACTGGCTTTATTGTTTGTTTACTT	0.431																																					Ovarian(92;924 1390 1930 16467 40583)	ENST00000367685.2																			0				breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						c.(619-624)atfs		G protein-coupled receptor 52																																				SO:0001589	frameshift_variant	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417869_174417872delTTGT	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"GPCR / Class A : Orphans"	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.620_623delTTGT	1.37:g.174417873_174417876delTTGT	ENSP00000356658:p.Ile207fs		Somatic				RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron	p.IV207fs	NM_005684.4	NP_005675.3	WXS	Illumina GAIIx	Phase_I	Q9Y2T5	GPR52_HUMAN			1	658_661	+			207					O75654|Q4VBL6|Q6ISM0	Frame_Shift_Del	DEL	ENST00000367685.2	37	c.620_623delTTGT	CCDS30941.1																																																																																				0.431	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		33	242						33	242	---	---	---	---	-	174417872	TTGT	-	174417869	7	5	30	1	0	1	0	1	0	0	0	0	6706	1493	52	0	622	0	GPR52	1	174417869	Frame_Shift_Del	DEL	TTGT	TCGA-N8-A4PP-01A-11D-A28R-08	15841139	174417869	74832752	17	2878										
ASTN1	460	broad.mit.edu	37	chr1	176915124	176915124	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gaatggttgttgtaaccaaaGaacatctccccaaagagggt	10	8	1	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:176915124G>T	ENST00000367654.3	-	13	2422	c.2211C>A	c.(2209-2211)ttC>ttA	p.F737L	ASTN1_ENST00000424564.2_Missense_Mutation_p.F729L|ASTN1_ENST00000361833.2_Missense_Mutation_p.F729L|ASTN1_ENST00000367657.3_Missense_Mutation_p.F729L|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	737					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						TGTAACCAAAGAACATCTCCC	0.498																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(2209-2211)ttC>ttA		astrotactin 1							122	122	122					1																	176915124		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176915124G>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.2211C>A	1.37:g.176915124G>T	ENSP00000356626:p.Phe737Leu		Somatic				ASTN1_ENST00000361833.2_Missense_Mutation_p.F729L|ASTN1_ENST00000367657.3_Missense_Mutation_p.F729L|ASTN1_ENST00000424564.2_Missense_Mutation_p.F729L|ASTN1_ENST00000281881.3_5'UTR	p.F737L			WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			13	2224	-			737					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2211C>A		.	.	.	.	.	.	.	.	.	.	G	10.82	1.458254	0.26161	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.11063	2.81;3.23;3.23;2.81	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.10981	0.0268	N	0.04880	-0.145	0.58432	D	0.999997	D;P;P	0.56035	0.974;0.954;0.954	D;D;D	0.70487	0.969;0.943;0.943	T	0.19160	-1.0314	10	0.02654	T	1	-33.8887	11.9089	0.52727	0.0805:0.0:0.9195:0.0	.	737;729;729	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	L	729;729;737;729;729	ENSP00000356629:F729L;ENSP00000354536:F729L;ENSP00000356626:F737L;ENSP00000395041:F729L	ENSP00000354536:F729L	F	-	3	2	ASTN1	175181747	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.440000	0.44855	2.467000	0.83353	0.655000	0.94253	TTC		0.498	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		5	133	1	0	0.014758	1	0.0148469	5	133					T	176915124	G	T	176915124	3	4	30	1	0	0	0	0	1	0	0	0	1064	933	33	2	1745	2	ASTN1	1	176915124	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	2497255	176915124	72335497	18	2879										
FAM5B	57795	broad.mit.edu	37	chr1	177199126	177199126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ttggctgtctcagccacggcGgctgctgtggtccccgagca	14	14	1	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:177199126G>A	ENST00000361539.4	+	2	426	c.114G>A	c.(112-114)gcG>gcA	p.A38A		NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	38					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											CAGCCACGGCGGCTGCTGTGG	0.692																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(112-114)gcG>gcA									27	31	30					1																	177199126		2203	4299	6502	SO:0001819	synonymous_variant	0					extracellular region		g.chr1:177199126G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.114G>A	1.37:g.177199126G>A			Somatic					p.A38A	NM_021165.2	NP_066988.1	WXS	Illumina GAIIx	Phase_I	Q9C0B6	FAM5B_HUMAN			2	426	+			38					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	37	c.114G>A	CCDS1320.1																																																																																				0.692	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		33	46	0	0	0	1	0	33	46					A	177199126	G	A	177199126	2	1	30	1	0	0	0	0	0	0	0	1	5601	1103	39	1		1	FAM5B	1	177199126	Silent	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	284002	177199126	72051495	19	2880										
GLT25D2	23127	broad.mit.edu	37	chr1	183944241	183944241	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ctgtttttaccagaatgtagTctgaccatttttccctcgca	6	11	1	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:183944241T>C	ENST00000361927.4	-	3	853	c.482A>G	c.(481-483)gAc>gGc	p.D161G	COLGALT2_ENST00000546159.1_Missense_Mutation_p.D161G	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	161					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										CAGAATGTAGTCTGACCATTT	0.448																																						ENST00000361927.4																			0											c.(481-483)gAc>gGc		collagen beta(1-O)galactosyltransferase 2							130	124	126					1																	183944241		2203	4300	6503	SO:0001583	missense	23127							g.chr1:183944241T>C	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 17", "glycosyltransferase 25 domain containing 2"	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.482A>G	1.37:g.183944241T>C	ENSP00000354960:p.Asp161Gly		Somatic				COLGALT2_ENST00000546159.1_Missense_Mutation_p.D161G	p.D161G	NM_015101.2	NP_055916.1	WXS	Illumina GAIIx	Phase_I					3	853	-								O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	c.482A>G	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.873407	0.91664	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	T;T	0.66815	-0.23;-0.23	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.85669	0.5750	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89276	0.3608	10	0.72032	D	0.01	.	15.386	0.74703	0.0:0.0:0.0:1.0	.	161;161	F5H3T5;Q8IYK4	.;GT252_HUMAN	G	161	ENSP00000439112:D161G;ENSP00000354960:D161G	ENSP00000354960:D161G	D	-	2	0	GLT25D2	182210864	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.745000	0.85046	2.089000	0.63090	0.528000	0.53228	GAC		0.448	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		29	45	0	0	0	1	0	29	45					C	183944241	T	C	183944241	3	2	30	1	0	0	0	0	1	0	0	0	6475	1667	58	4	1438	4	GLT25D2	1	183944241	Missense_Mutation	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08	6745115	183944241	65306380	20	2881										
DISP1	84976	broad.mit.edu	37	chr1	223116295	223116295	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	cccagcagctcacacccaaaGaagcaacaagaacaaaagtg	7	13	1	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:223116295G>C	ENST00000284476.6	+	2	294	c.130G>C	c.(130-132)Gaa>Caa	p.E44Q	DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Missense_Mutation_p.E44Q	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	44					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)		CACACCCAAAGAAGCAACAAG	0.507																																						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.(130-132)Gaa>Caa		dispatched homolog 1 (Drosophila)							162	146	152					1																	223116295		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.chr1:223116295G>C	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.130G>C	1.37:g.223116295G>C	ENSP00000284476:p.Glu44Gln		Somatic				DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Missense_Mutation_p.E44Q	p.E44Q	NM_032890.3	NP_116279.2	WXS	Illumina GAIIx	Phase_I	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	2	294	+			44					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.130G>C	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839716	0.71488	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.93076	0.65;-3.16	5.77	5.77	0.91146	.	0.299519	0.30820	N	0.008804	D	0.93618	0.7962	M	0.65975	2.015	0.44149	D	0.99694	P	0.43633	0.813	B	0.42798	0.398	D	0.93966	0.7245	10	0.72032	D	0.01	-13.085	19.9831	0.97336	0.0:0.0:1.0:0.0	.	44	Q96F81	DISP1_HUMAN	Q	44	ENSP00000355848:E44Q;ENSP00000284476:E44Q	ENSP00000284476:E44Q	E	+	1	0	DISP1	221182918	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.159000	0.77483	2.728000	0.93425	0.650000	0.86243	GAA		0.507	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		15	57	0	0	0	1	0	15	57					C	223116295	G	C	223116295	3	2	30	1	0	0	0	0	1	0	0	0	4541	943	33	2	132	2	DISP1	1	223116295	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	39172054	223116295	26134326	21	2882										
LEFTY1	10637	broad.mit.edu	37	chr1	226075635	226075635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tcctggaagagccgcagcacGgcctgcaccagctcgctgtt	12	15	0	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:226075635G>A	ENST00000272134.5	-	2	427	c.348C>T	c.(346-348)gcC>gcT	p.A116A	RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.R225C|LEFTY1_ENST00000492457.1_5'UTR	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	116					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					GCCGCAGCACGGCCTGCACCA	0.736																																						ENST00000432920.2																			0											c.(673-675)Cgt>Tgt									2	4	3					1																	226075635		1433	3298	4731	SO:0001819	synonymous_variant	0							g.chr1:226075635G>A	AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"left-right determination, factor B"	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.348C>T	1.37:g.226075635G>A			Somatic				LEFTY1_ENST00000272134.5_Silent_p.A116A|LEFTY1_ENST00000492457.1_5'UTR	p.R225C			WXS	Illumina GAIIx	Phase_I					6	840	-								B2R7U0|Q53H67|Q5TE94	Missense_Mutation	SNP	ENST00000272134.5	37	c.673C>T	CCDS1548.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943517	0.34283	.	.	ENSG00000255835	ENST00000432920	T	0.80214	-1.35	3.47	-2.13	0.07144	.	.	.	.	.	T	0.68201	0.2975	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.54833	-0.8234	8	0.87932	D	0	.	4.9625	0.14074	0.5283:0.1586:0.3131:0.0	.	225	E7EUD8	.	C	225	ENSP00000414068:R225C	ENSP00000414068:R225C	R	-	1	0	RP4-559A3.7	224142258	0.027000	0.19231	0.980000	0.43619	0.476000	0.33039	-1.283000	0.02796	-0.386000	0.07821	0.313000	0.20887	CGT		0.736	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		3	11	0	0	0	1	0	3	11					A	226075635	G	A	226075635	2	1	30	1	0	0	0	0	0	0	0	1	8724	1103	39	1		1	LEFTY1	1	226075635	Silent	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	2959340	226075635	23174986	22	2883										
MYT1L	23040	broad.mit.edu	37	chr2	1926933	1926933	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tgccgaggtttaacaatgacTtggccaccagttcatcgtaa	9	10	1	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:1926933T>G	ENST00000399161.2	-	10	1355	c.608A>C	c.(607-609)aAg>aCg	p.K203T	MYT1L_ENST00000428368.2_Missense_Mutation_p.K203T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	203					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)		TAACAATGACTTGGCCACCAG	0.423																																						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.(607-609)aAg>aCg		myelin transcription factor 1-like							111	103	106					2																	1926933		1942	4164	6106	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926933T>G	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.608A>C	2.37:g.1926933T>G	ENSP00000382114:p.Lys203Thr		Somatic				MYT1L_ENST00000428368.2_Missense_Mutation_p.K203T	p.K203T	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	1355	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	203					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.608A>C		.	.	.	.	.	.	.	.	.	.	T	17.19	3.327144	0.60743	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.53206	0.63;0.63	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	T	0.58629	-0.7603	10	0.44086	T	0.13	-59.5166	16.3721	0.83368	0.0:0.0:0.0:1.0	.	203;203	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	T	203;151;203	ENSP00000382114:K203T;ENSP00000396103:K203T	ENSP00000295067:K151T	K	-	2	0	MYT1L	1905940	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	7.961000	0.87903	2.257000	0.74773	0.533000	0.62120	AAG		0.423	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		4	33	0	0	0	1	0	4	33					G	1926933	T	G	1926933	3	3	30	1	0	0	0	0	1	0	0	0	10116	1609	56	4	3010	4	MYT1L	2	1926933	Missense_Mutation	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08		1926933	241272440	23	2884										
SPTBN1	6711	broad.mit.edu	37	chr2	54858342	54858342	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gatgaagaccaccctgaaaaAccgagaggcctccctgggag	12	12	0	4			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:54858342A>C	ENST00000356805.4	+	16	3439	c.3158A>C	c.(3157-3159)aAc>aCc	p.N1053T	SPTBN1_ENST00000333896.5_Missense_Mutation_p.N1040T	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1053					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)			ACCCTGAAAAACCGAGAGGCC	0.632																																						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.(3118-3120)aAc>aCc		spectrin, beta, non-erythrocytic 1							69	83	78					2																	54858342		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54858342A>C		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.3158A>C	2.37:g.54858342A>C	ENSP00000349259:p.Asn1053Thr		Somatic				SPTBN1_ENST00000356805.4_Missense_Mutation_p.N1053T	p.N1040T	NM_178313.2	NP_842565.2	WXS	Illumina GAIIx	Phase_I	Q01082	SPTB2_HUMAN	Lung(47;0.24)		15	3504	+			1053					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.3119A>C	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.911198	0.33721	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.47869	0.83;0.83	5.56	5.56	0.83823	.	0.196537	0.52532	D	0.000067	T	0.38931	0.1059	L	0.31065	0.9	0.48632	D	0.999685	B;B	0.18741	0.009;0.03	B;B	0.22152	0.022;0.038	T	0.14420	-1.0473	10	0.32370	T	0.25	.	15.727	0.77770	1.0:0.0:0.0:0.0	.	1040;1053	Q01082-3;Q01082	.;SPTB2_HUMAN	T	1053;1040	ENSP00000349259:N1053T;ENSP00000334156:N1040T	ENSP00000334156:N1040T	N	+	2	0	SPTBN1	54711846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.096000	0.57734	2.118000	0.64928	0.533000	0.62120	AAC		0.632	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			5	129	0	0	0	1	0	5	129					C	54858342	A	C	54858342	3	2	30	1	0	0	0	0	1	0	0	0	15134	43	2	4	3329	4	SPTBN1	2	54858342	Missense_Mutation	SNP	A	TCGA-N8-A4PP-01A-11D-A28R-08	52931409	54858342	188341031	24	2885										
ACTR3	10096	broad.mit.edu	37	chr2	114691916	114691916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	taggagaacggacgttgaccGgtacggtaatagacagtgga	15	6	0	3			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:114691916G>A	ENST00000263238.2	+	6	813	c.493G>A	c.(493-495)Ggt>Agt	p.G165S	ACTR3_ENST00000535589.2_Missense_Mutation_p.G114S|ACTR3_ENST00000536059.1_Missense_Mutation_p.G103S	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	165					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						GACGTTGACCGGTACGGTAAT	0.418																																						ENST00000263238.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						c.(493-495)Ggt>Agt		ARP3 actin-related protein 3 homolog (yeast)							264	239	248					2																	114691916		2203	4300	6503	SO:0001583	missense	10096				cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding	g.chr2:114691916G>A	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.493G>A	2.37:g.114691916G>A	ENSP00000263238:p.Gly165Ser		Somatic				ACTR3_ENST00000536059.1_Missense_Mutation_p.G103S|ACTR3_ENST00000535589.2_Missense_Mutation_p.G114S	p.G165S	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	WXS	Illumina GAIIx	Phase_I	P61158	ARP3_HUMAN			6	813	+			165					P32391|Q53QM2	Missense_Mutation	SNP	ENST00000263238.2	37	c.493G>A	CCDS33277.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380691	0.95945	.	.	ENSG00000115091	ENST00000263238;ENST00000536059;ENST00000544784;ENST00000535589	T;T;T	0.12039	2.72;2.72;2.72	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.40815	0.1132	M	0.91717	3.235	0.80722	D	1	P;D	0.61080	0.953;0.989	B;P	0.54372	0.397;0.75	T	0.55655	-0.8107	10	0.87932	D	0	-8.8788	18.4376	0.90652	0.0:0.0:1.0:0.0	.	103;165	F5H3P5;P61158	.;ARP3_HUMAN	S	165;103;36;114	ENSP00000263238:G165S;ENSP00000445257:G103S;ENSP00000444987:G114S	ENSP00000263238:G165S	G	+	1	0	ACTR3	114408386	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	9.581000	0.98210	2.592000	0.87571	0.585000	0.79938	GGT		0.418	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331366.2	NM_005721		86	117	0	0	0	1	0	86	117					A	114691916	G	A	114691916	3	1	30	1	0	0	0	0	1	0	0	0	212	1116	39	1	515	1	ACTR3	2	114691916	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	59833574	114691916	128507457	25	2886										
DPP10	57628	broad.mit.edu	37	chr2	116594298	116594298	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gcttgaaagaagaaaatataTtaataattcatggaactgct	7	4	1	3			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:116594298T>G	ENST00000410059.1	+	24	2638	c.2158T>G	c.(2158-2160)Tta>Gta	p.L720V	DPP10_ENST00000409163.1_Missense_Mutation_p.L670V|DPP10_ENST00000393147.2_Missense_Mutation_p.L724V|DPP10_ENST00000310323.8_Missense_Mutation_p.L713V	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	720						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						AGAAAATATATTAATAATTCA	0.338																																						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.(2158-2160)Tta>Gta		dipeptidyl-peptidase 10 (non-functional)							83	101	95					2																	116594298		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116594298T>G	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.2158T>G	2.37:g.116594298T>G	ENSP00000386565:p.Leu720Val		Somatic				DPP10_ENST00000409163.1_Missense_Mutation_p.L670V|DPP10_ENST00000310323.8_Missense_Mutation_p.L713V|DPP10_ENST00000393147.2_Missense_Mutation_p.L724V	p.L720V	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	WXS	Illumina GAIIx	Phase_I	Q8N608	DPP10_HUMAN			24	2638	+			720					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.2158T>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.214419	0.58452	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.15	4.0	0.46444	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.150651	0.45361	D	0.000378	T	0.67078	0.2855	M	0.87038	2.855	0.47905	D	0.999545	D;P;D;D	0.76494	0.999;0.731;0.999;0.999	D;P;D;D	0.72982	0.964;0.449;0.979;0.979	T	0.68473	-0.5399	10	0.87932	D	0	-25.5718	5.721	0.17986	0.0:0.2794:0.0:0.7206	.	713;724;716;720	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	V	720;670;724;713	ENSP00000386565:L720V;ENSP00000387038:L670V;ENSP00000376855:L724V;ENSP00000309066:L713V	ENSP00000309066:L713V	L	+	1	2	DPP10	116310768	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.385000	0.20685	0.988000	0.38734	0.459000	0.35465	TTA		0.338	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		24	108	0	0	0	1	0	24	108					G	116594298	T	G	116594298	3	3	30	1	0	0	0	0	1	0	0	0	4729	1490	52	4	2423	4	DPP10	2	116594298	Missense_Mutation	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08	1902382	116594298	126605075	26	2887										
HOXD10	3236	broad.mit.edu	37	chr2	176982219	176982219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tctcccaggtggagagccccGaggccaaaggcggccttccc	13	16	1	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:176982219G>A	ENST00000249501.4	+	1	913	c.658G>A	c.(658-660)Gag>Aag	p.E220K	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	220					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)		GGAGAGCCCCGAGGCCAAAGG	0.622																																						ENST00000249501.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(658-660)Gag>Aag		homeobox D10							22	27	25					2																	176982219		2195	4284	6479	SO:0001583	missense	3236					nucleus	sequence-specific DNA binding	g.chr2:176982219G>A		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"Homeoboxes / ANTP class : HOXL subclass"	5133	protein-coding gene	gene with protein product		142984	"homeo box D10"	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.658G>A	2.37:g.176982219G>A	ENSP00000249501:p.Glu220Lys		Somatic				HOXD10_ENST00000490088.2_Intron	p.E220K	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	913	+			220					Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	c.658G>A	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648129	0.47258	.	.	ENSG00000128710	ENST00000249501	D	0.93307	-3.2	5.9	5.9	0.94986	.	0.231325	0.48767	D	0.000161	D	0.93051	0.7788	M	0.73962	2.25	0.58432	D	0.999996	B	0.22080	0.064	B	0.16722	0.016	D	0.89074	0.3471	10	0.26408	T	0.33	.	20.4349	0.99088	0.0:0.0:1.0:0.0	.	220	P28358	HXD10_HUMAN	K	220	ENSP00000249501:E220K	ENSP00000249501:E220K	E	+	1	0	HOXD10	176690465	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.092000	0.94157	2.839000	0.97877	0.644000	0.83932	GAG		0.622	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			13	67	0	0	0	1	0	13	67					A	176982219	G	A	176982219	3	1	30	1	0	0	0	0	1	0	0	0	7328	1059	37	1	660	1	HOXD10	2	176982219	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	60387921	176982219	66217154	27	2888										
HOXD9	3235	broad.mit.edu	37	chr2	176987826	176987826	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	cccctggccgcctctgcctcCgagcccggccgctacgtgcg	12	21	1	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:176987826C>T	ENST00000249499.6	+	1	739	c.330C>T	c.(328-330)tcC>tcT	p.S110S	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	110					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|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)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CCTCTGCCTCCGAGCCCGGCC	0.796																																					GBM(47;924 952 7959 9248 12176)	ENST00000249499.6																			0				endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10						c.(328-330)tcC>tcT		homeobox D9							3	4	4					2																	176987826		1402	2760	4162	SO:0001819	synonymous_variant	3235					nucleus	sequence-specific DNA binding	g.chr2:176987826C>T		CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"Homeoboxes / ANTP class : HOXL subclass"	5140	protein-coding gene	gene with protein product		142982	"homeo box D9"	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.330C>T	2.37:g.176987826C>T			Somatic				HOXD-AS2_ENST00000440016.2_RNA	p.S110S	NM_014213.3	NP_055028.3	WXS	Illumina GAIIx	Phase_I	P28356	HXD9_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	739	+			110					Q86ST1	Silent	SNP	ENST00000249499.6	37	c.330C>T	CCDS2267.2																																																																																				0.796	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4			6	10	0	0	0	1	0	6	10					T	176987826	C	T	176987826	2	4	30	1	0	0	0	0	0	0	0	1	7335	639	23	1		1	HOXD9	2	176987826	Silent	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	5607	176987826	66211547	28	2889										
TTN	7273	broad.mit.edu	37	chr2	179615491	179615491	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gtgtaccaaaagattcgctgGcatgtggtgtaatagcttga	12	6	0	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:179615491G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.A3879D|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_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)			AGATTCGCTGGCATGTGGTGT	0.358																																						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.(11635-11637)gCc>gAc		titin							81	78	79					2																	179615491		2202	4299	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615491G>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.10360+2359C>A	2.37:g.179615491G>T			Somatic				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron	p.A3879D	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	11858	-			9701					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.11636C>A		.	.	.	.	.	.	.	.	.	.	G	11.36	1.616829	0.28801	.	.	ENSG00000155657	ENST00000360870	T	0.57752	0.38	5.55	2.6	0.31112	.	.	.	.	.	T	0.25531	0.0621	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21827	-1.0234	9	0.11794	T	0.64	.	4.3698	0.11242	0.2128:0.0:0.4963:0.2908	.	3879	Q8WZ42-6	.	D	3879	ENSP00000354117:A3879D	ENSP00000354117:A3879D	A	-	2	0	TTN	179323736	0.000000	0.05858	0.013000	0.15412	0.285000	0.27093	0.262000	0.18460	0.741000	0.32674	0.655000	0.94253	GCC		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	40	1	0	9.31168e-06	1	9.90478e-06	13	40					T	179615491	G	T	179615491	1	4	30	0	1	0	0	0	0	0	0	0	16750	1203	42	5		5	TTN	2	179615491	Intron	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	2627665	179615491	63583882	29	2890										
STAT1	6772	broad.mit.edu	37	chr2	191848434	191848434	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ccgctcgggagctggctgacGttggagatcaccacaacggg	15	12	1	2	rs150942324		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:191848434G>C	ENST00000361099.3	-	17	1767	c.1380C>G	c.(1378-1380)aaC>aaG	p.N460K	STAT1_ENST00000409465.1_Missense_Mutation_p.N460K|STAT1_ENST00000392323.2_Missense_Mutation_p.N462K|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.N460K	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	460					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)			GCTGGCTGACGTTGGAGATCA	0.507																																						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.(1378-1380)aaC>aaG		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						100	94	96					2																	191848434		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.chr2:191848434G>C		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.1380C>G	2.37:g.191848434G>C	ENSP00000354394:p.Asn460Lys		Somatic				STAT1_ENST00000392322.3_Missense_Mutation_p.N460K|STAT1_ENST00000392323.2_Missense_Mutation_p.N462K|STAT1_ENST00000409465.1_Missense_Mutation_p.N460K|STAT1_ENST00000540176.1_3'UTR	p.N460K	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)		17	1767	-			460					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.1380C>G	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637962	0.67130	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.19	-1.5	0.08691	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.080973	0.85682	D	0.000000	D	0.93400	0.7895	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.81914	0.917;0.995	D	0.92136	0.5716	10	0.87932	D	0	-39.885	12.0885	0.53710	0.5642:0.0:0.4358:0.0	.	460;460	P42224-2;P42224	.;STAT1_HUMAN	K	460;460;460;462	ENSP00000354394:N460K;ENSP00000386244:N460K;ENSP00000376136:N460K;ENSP00000376137:N462K	ENSP00000354394:N460K	N	-	3	2	STAT1	191556679	0.002000	0.14202	0.984000	0.44739	0.971000	0.66376	-1.409000	0.02483	-0.393000	0.07739	-0.140000	0.14226	AAC		0.507	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		21	122	0	0	0	1	0	21	122					C	191848434	G	C	191848434	3	2	30	1	0	0	0	0	1	0	0	0	15279	1136	40	5	912	5	STAT1	2	191848434	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	12232943	191848434	51350939	30	2891										
TRIP12	9320	broad.mit.edu	37	chr2	230667108	230667108	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	atggatcccgatccattcgtAcatgcctttggtggacttgt	10	10	0	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:230667108A>G	ENST00000283943.5	-	20	3019	c.2841T>C	c.(2839-2841)tgT>tgC	p.C947C	TRIP12_ENST00000389044.4_Silent_p.C995C|TRIP12_ENST00000389045.3_Silent_p.C677C|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	947					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)		ATCCATTCGTACATGCCTTTG	0.473																																						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.(2839-2841)tgT>tgC		thyroid hormone receptor interactor 12							147	130	136					2																	230667108		2203	4300	6503	SO:0001819	synonymous_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230667108A>G	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.2841T>C	2.37:g.230667108A>G			Somatic				TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Silent_p.C677C|TRIP12_ENST00000389044.4_Silent_p.C995C	p.C947C	NM_004238.1	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)	20	3019	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	947					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	c.2841T>C	CCDS33391.1																																																																																				0.473	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		10	89	0	0	0	1	0	10	89					G	230667108	A	G	230667108	2	3	30	1	0	0	0	0	0	0	0	1	16571	389	14	4		4	TRIP12	2	230667108	Silent	SNP	A	TCGA-N8-A4PP-01A-11D-A28R-08	38818674	230667108	12532265	31	2892										
UGT1A4	54657	broad.mit.edu	37	chr2	234628129	234628129	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ctctaccctctggccctgtcCtacatttgccatactttttc	4	16	2	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:234628129C>A	ENST00000373409.3	+	1	706	c.663C>A	c.(661-663)tcC>tcA	p.S221S	UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	221					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)	TGGCCCTGTCCTACATTTGCC	0.463																																					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.(661-663)tcC>tcA									235	219	224					2																	234628129		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr2:234628129C>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.663C>A	2.37:g.234628129C>A			Somatic				UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	p.S221S	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	706	+		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.663C>A	CCDS33405.1																																																																																				0.463	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		28	183	1	0	2.48779e-11	1	2.71544e-11	28	183					A	234628129	C	A	234628129	2	1	30	1	0	0	0	0	0	0	0	1	16962	668	24	5		5	UGT1A4	2	234628129	Silent	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	3961021	234628129	8571244	32	2893										
BRPF1	7862	broad.mit.edu	37	chr3	9786709	9786709	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	aagacttaccagccaatggcTtcagcggtggaaaccaacca	9	12	1	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:9786709T>G	ENST00000457855.1	+	9	2931	c.2920T>G	c.(2920-2922)Ttc>Gtc	p.F974V	BRPF1_ENST00000383829.2_Missense_Mutation_p.F980V|BRPF1_ENST00000424362.1_Missense_Mutation_p.F973V|BRPF1_ENST00000433861.2_Missense_Mutation_p.F879V|BRPF1_ENST00000302054.3_Missense_Mutation_p.F974V			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	974	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)					AGCCAATGGCTTCAGCGGTGG	0.527																																						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.(2938-2940)Ttc>Gtc		bromodomain and PHD finger containing, 1							99	86	90					3																	9786709		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.chr3:9786709T>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.2920T>G	3.37:g.9786709T>G	ENSP00000410210:p.Phe974Val		Somatic				BRPF1_ENST00000457855.1_Missense_Mutation_p.F974V|BRPF1_ENST00000433861.2_Missense_Mutation_p.F879V|BRPF1_ENST00000302054.3_Missense_Mutation_p.F974V|BRPF1_ENST00000424362.1_Missense_Mutation_p.F973V	p.F980V	NM_001003694.1	NP_001003694.1	WXS	Illumina GAIIx	Phase_I	P55201	BRPF1_HUMAN			10	3342	+	Medulloblastoma(99;0.227)		974			Required for RUNX1 and RUNX2 transcriptional activation.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.2938T>G	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.791691	0.50102	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.17370	2.34;2.28;3.67;2.28;2.28	5.62	5.62	0.85841	.	0.119478	0.64402	D	0.000010	T	0.37972	0.1023	M	0.68593	2.085	0.80722	D	1	D;B;B;B	0.57899	0.981;0.034;0.034;0.02	D;B;B;B	0.66351	0.943;0.017;0.027;0.011	T	0.06215	-1.0839	10	0.25106	T	0.35	.	15.827	0.78718	0.0:0.0:0.0:1.0	.	879;973;980;974	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	V	879;973;980;974;974	ENSP00000402485:F879V;ENSP00000398863:F973V;ENSP00000373340:F980V;ENSP00000306297:F974V;ENSP00000410210:F974V	ENSP00000306297:F974V	F	+	1	0	BRPF1	9761709	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.662000	0.83803	2.129000	0.65627	0.533000	0.62120	TTC		0.527	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		24	76	0	0	0	1	0	24	76					G	9786709	T	G	9786709	3	3	30	1	0	0	0	0	1	0	0	0	1522	1609	56	4	2972	4	BRPF1	3	9786709	Missense_Mutation	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08		9786709	188235721	33	2894										
TRANK1	9881	broad.mit.edu	37	chr3	36874297	36874297	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ttgcaaaggccatacatatcTgtagacaaaatataatcaat	5	7	2	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:36874297T>G	ENST00000429976.2	-	21	6892	c.6645A>C	c.(6643-6645)acA>acC	p.T2215T	TRANK1_ENST00000428977.2_Silent_p.T1665T|TRANK1_ENST00000301807.6_Silent_p.T1665T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2215							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						CATACATATCTGTAGACAAAA	0.388																																						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.(6643-6645)acA>acC		tetratricopeptide repeat and ankyrin repeat containing 1							73	71	72					3																	36874297		1826	4073	5899	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36874297T>G	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6645A>C	3.37:g.36874297T>G			Somatic				TRANK1_ENST00000428977.2_Silent_p.T1665T|TRANK1_ENST00000301807.6_Silent_p.T1665T	p.T2215T			WXS	Illumina GAIIx	Phase_I	O15050	TRNK1_HUMAN			21	6892	-			2215					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.6645A>C	CCDS46789.2																																																																																				0.388	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		19	52	0	0	0	1	0	19	52					G	36874297	T	G	36874297	2	3	30	1	0	0	0	0	0	0	0	1	16469	1567	55	4		4	TRANK1	3	36874297	Silent	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08	27087588	36874297	161148133	34	2895										
DRD3	1814	broad.mit.edu	37	chr3	113850128	113850128	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ggactcagggaattccgagtCttctcctctcttttcaactc	7	13	5	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:113850128C>G	ENST00000460779.1	-	7	1132	c.843G>C	c.(841-843)aaG>aaC	p.K281N	DRD3_ENST00000383673.2_Missense_Mutation_p.K281N|DRD3_ENST00000467632.1_Missense_Mutation_p.K281N|DRD3_ENST00000295881.7_Missense_Mutation_p.K281N	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	281					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)	AATTCCGAGTCTTCTCCTCTC	0.522																																						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.(841-843)aaG>aaC		dopamine receptor D3	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						196	200	199					3																	113850128		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.chr3:113850128C>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.843G>C	3.37:g.113850128C>G	ENSP00000419402:p.Lys281Asn		Somatic				DRD3_ENST00000460779.1_Missense_Mutation_p.K281N|DRD3_ENST00000467632.1_Missense_Mutation_p.K281N|DRD3_ENST00000295881.7_Missense_Mutation_p.K281N	p.K281N	NM_000796.3	NP_000787.2	WXS	Illumina GAIIx	Phase_I	P35462	DRD3_HUMAN			6	1273	-			281					A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.843G>C	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	C	1.499	-0.552573	0.03996	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	5.52	1.68	0.24146	GPCR, rhodopsin-like superfamily (1);	0.690014	0.15020	N	0.285022	T	0.51024	0.1650	N	0.25825	0.765	0.09310	N	1	B;B;B;B	0.14012	0.009;0.0;0.0;0.004	B;B;B;B	0.21546	0.035;0.016;0.016;0.012	T	0.30679	-0.9970	10	0.20046	T	0.44	.	4.4273	0.11509	0.0:0.408:0.3095:0.2826	.	281;281;281;281	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	N	281	ENSP00000419402:K281N;ENSP00000420662:K281N;ENSP00000373169:K281N;ENSP00000295881:K281N	ENSP00000281274:K281N	K	-	3	2	DRD3	115332818	0.000000	0.05858	0.053000	0.19242	0.040000	0.13550	-0.023000	0.12456	0.122000	0.18314	-0.181000	0.13052	AAG		0.522	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		82	164	0	0	0	1	0	82	164					G	113850128	C	G	113850128	3	3	30	1	0	0	0	0	1	0	0	0	4760	912	32	2	367	2	DRD3	3	113850128	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	76975831	113850128	84172302	35	2896										
ATP11B	23200	broad.mit.edu	37	chr3	182584220	182584220	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gatgaaaaggctctagtagaAgctgctgcaaggtaatttag	12	5	1	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:182584220A>G	ENST00000323116.5	+	14	1868	c.1608A>G	c.(1606-1608)gaA>gaG	p.E536E		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	536					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)			CTCTAGTAGAAGCTGCTGCAA	0.378																																						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.(1606-1608)gaA>gaG		ATPase, class VI, type 11B							77	77	77					3																	182584220		2203	4300	6503	SO:0001819	synonymous_variant	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182584220A>G	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.1608A>G	3.37:g.182584220A>G			Somatic					p.E536E	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)		14	1868	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		536					Q96FN1|Q9UKK7	Silent	SNP	ENST00000323116.5	37	c.1608A>G	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	A	1.534	-0.543518	0.04053	.	.	ENSG00000058063	ENST00000498086	.	.	.	5.28	1.18	0.20946	.	.	.	.	.	T	0.57858	0.2082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51988	-0.8635	4	.	.	.	.	9.7536	0.40490	0.7736:0.0:0.2264:0.0	.	.	.	.	R	337	.	.	K	+	2	0	ATP11B	184066914	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	2.724000	0.47285	0.315000	0.23110	0.477000	0.44152	AAG		0.378	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		33	77	0	0	0	1	0	33	77					G	182584220	A	G	182584220	2	3	30	1	0	0	0	0	0	0	0	1	1120	69	3	4		4	ATP11B	3	182584220	Silent	SNP	A	TCGA-N8-A4PP-01A-11D-A28R-08	68734092	182584220	15438210	36	2897										
ATP13A4	84239	broad.mit.edu	37	chr3	193188757	193188757	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	aaatctccaggcaccaggacGcgtgattccagctcttgaac	9	13	2	2	rs376879092		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:193188757G>A	ENST00000342695.4	-	9	1156	c.834C>T	c.(832-834)cgC>cgT	p.R278R	ATP13A4_ENST00000392443.3_Silent_p.R278R|ATP13A4_ENST00000295548.3_Silent_p.R278R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	278						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)		GCACCAGGACGCGTGATTCCA	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.(832-834)cgC>cgT		ATPase type 13A4		G		0,4406		0,0,2203	148	146	147		834	2.7	0.8	3		147	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP13A4	NM_032279.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		278/1197	193188757	1,13005	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.chr3:193188757G>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.834C>T	3.37:g.193188757G>A			Somatic				ATP13A4_ENST00000392443.3_Silent_p.R278R|ATP13A4_ENST00000295548.3_Silent_p.R278R	p.R278R	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)	9	1156	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		278					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.834C>T	CCDS3304.2																																																																																				0.448	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		50	253	0	0	0	1	0	50	253					A	193188757	G	A	193188757	2	1	30	1	0	0	0	0	0	0	0	1	1126	1074	38	1		1	ATP13A4	3	193188757	Silent	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	10604537	193188757	4833673	37	2898										
GNRHR	2798	broad.mit.edu	37	chr4	68619733	68619733	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	cagagtaactctccagcataCcattggactgtaatgttcca	7	11	1	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr4:68619733C>G	ENST00000226413.4	-	1	345	c.321G>C	c.(319-321)tgG>tgC	p.W107C	GNRHR_ENST00000420975.2_Missense_Mutation_p.W107C|UBA6-AS1_ENST00000502758.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	107					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	CTCCAGCATACCATTGGACTG	0.473																																						ENST00000226413.4																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13						c.(319-321)tgG>tgC		gonadotropin-releasing hormone receptor	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						109	103	105					4																	68619733		2203	4300	6503	SO:0001583	missense	0				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68619733C>G		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"GPCR / Class A : Gonadotropin-releasing hormone receptors"	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.321G>C	4.37:g.68619733C>G	ENSP00000226413:p.Trp107Cys		Somatic				GNRHR_ENST00000420975.2_Missense_Mutation_p.W107C|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000502758.1_RNA	p.W107C	NM_000406.2	NP_000397.1	WXS	Illumina GAIIx	Phase_I	P30968	GNRHR_HUMAN			1	345	-			107					O75793|Q14D13|Q92644	Missense_Mutation	SNP	ENST00000226413.4	37	c.321G>C	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561871	0.45590	.	.	ENSG00000109163	ENST00000226413;ENST00000420975	T;T	0.77877	-1.13;-1.13	6.03	6.03	0.97812	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	D	0.89966	0.6868	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90785	0.4682	10	0.87932	D	0	-7.531	18.0507	0.89347	0.0:1.0:0.0:0.0	.	107;107	P30968;P30968-2	GNRHR_HUMAN;.	C	107	ENSP00000226413:W107C;ENSP00000397561:W107C	ENSP00000226413:W107C	W	-	3	0	GNRHR	68302328	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	7.560000	0.82277	2.861000	0.98227	0.655000	0.94253	TGG		0.473	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			15	61	0	0	0	1	0	15	61					G	68619733	C	G	68619733	3	3	30	1	0	0	0	0	1	0	0	0	6557	508	18	5	677	5	GNRHR	4	68619733	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08		68619733	122534543	38	2899										
HNRNPD	3184	broad.mit.edu	37	chr4	83279884	83279884	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gaaaggccaccaacaaaaatTtttttaaccggctcttttgt	6	9	1	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr4:83279884T>A	ENST00000313899.7	-	4	826	c.549A>T	c.(547-549)aaA>aaT	p.K183N	HNRNPD_ENST00000541060.1_Missense_Mutation_p.K29N|HNRNPD_ENST00000543098.1_Missense_Mutation_p.K131N|HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000353341.4_Missense_Mutation_p.K183N|HNRNPD_ENST00000352301.4_Missense_Mutation_p.K164N	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	183	RRM 2. {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						CAACAAAAATTTTTTTAACCG	0.368																																						ENST00000313899.7																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(547-549)aaA>aaT		heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)							68	73	71					4																	83279884		2203	4300	6503	SO:0001583	missense	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.chr4:83279884T>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.549A>T	4.37:g.83279884T>A	ENSP00000313199:p.Lys183Asn		Somatic				HNRNPD_ENST00000353341.4_Missense_Mutation_p.K183N|HNRNPD_ENST00000541060.1_Missense_Mutation_p.K29N|HNRNPD_ENST00000543098.1_Missense_Mutation_p.K131N|HNRNPD_ENST00000352301.4_Missense_Mutation_p.K164N	p.K183N	NM_031370.2	NP_112738.1	WXS	Illumina GAIIx	Phase_I	Q14103	HNRPD_HUMAN			4	826	-			183			RRM 2.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP	ENST00000313899.7	37	c.549A>T	CCDS3592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.89|18.89	3.720539|3.720539	0.68959|0.68959	.|.	.|.	ENSG00000138668|ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000541060;ENST00000509263;ENST00000507010;ENST00000515432|ENST00000514671	D;D;D;D;D;D;D;D|.	0.92965|.	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14|.	5.76|5.76	4.58|4.58	0.56647|0.56647	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);|.	0.042034|.	0.85682|.	D|.	0.000000|.	T|T	0.64394|0.64394	0.2594|0.2594	M|M	0.74881|0.74881	2.28|2.28	0.58432|0.58432	D|D	0.999995|0.999995	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|T	0.63686|0.63686	-0.6581|-0.6581	10|5	0.87932|.	D|.	0|.	.|.	6.561|6.561	0.22485|0.22485	0.0:0.2801:0.0:0.7199|0.0:0.2801:0.0:0.7199	.|.	164;183;164;183|.	Q14103-4;Q14103-3;Q14103-2;Q14103|.	.;.;.;HNRPD_HUMAN|.	N|Y	183;183;164;131;158;29;116;183;85|87	ENSP00000313199:K183N;ENSP00000313327:K183N;ENSP00000305860:K164N;ENSP00000439380:K131N;ENSP00000437416:K29N;ENSP00000420926:K116N;ENSP00000421952:K183N;ENSP00000426666:K85N|.	ENSP00000307544:K158N|.	K|N	-|-	3|1	2|0	HNRNPD|HNRNPD	83498908|83498908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.798000|0.798000	0.45092|0.45092	2.993000|2.993000	0.49425|0.49425	1.116000|1.116000	0.41820|0.41820	-0.263000|-0.263000	0.10527|0.10527	AAA|AAT		0.368	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		19	70	0	0	0	1	0	19	70					A	83279884	T	A	83279884	3	1	30	1	0	0	0	0	1	0	0	0	7273	1838	64	4	538	4	HNRNPD	4	83279884	Missense_Mutation	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08	14660151	83279884	107874392	39	2900										
ENPP6	133121	broad.mit.edu	37	chr4	185074851	185074851	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ggtggtggggtcccacatgtAgttcccgatcatctgatgga	14	9	2	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr4:185074851A>C	ENST00000296741.2	-	2	418	c.277T>G	c.(277-279)Tac>Gac	p.Y93D		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	93					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TCCCACATGTAGTTCCCGATC	0.473																																						ENST00000296741.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15						c.(277-279)Tac>Gac		ectonucleotide pyrophosphatase/phosphodiesterase 6							137	123	128					4																	185074851		2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185074851A>C	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.277T>G	4.37:g.185074851A>C	ENSP00000296741:p.Tyr93Asp		Somatic					p.Y93D	NM_153343.3	NP_699174.1	WXS	Illumina GAIIx	Phase_I	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	2	418	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	93					Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.277T>G	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.470855	0.63625	.	.	ENSG00000164303	ENST00000296741;ENST00000512353	T;T	0.71341	-0.56;-0.56	5.44	3.01	0.34805	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.109909	0.64402	D	0.000004	T	0.71525	0.3350	L	0.37750	1.13	0.58432	D	0.99999	D	0.76494	0.999	D	0.70935	0.971	T	0.64411	-0.6414	10	0.13853	T	0.58	-16.5322	9.7427	0.40429	0.8626:0.0:0.1374:0.0	.	93	Q6UWR7	ENPP6_HUMAN	D	93;5	ENSP00000296741:Y93D;ENSP00000423497:Y5D	ENSP00000296741:Y93D	Y	-	1	0	ENPP6	185311845	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.174000	0.77620	0.385000	0.24970	-0.899000	0.02877	TAC		0.473	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		10	35	0	0	0	1	0	10	35					C	185074851	A	C	185074851	3	2	30	1	0	0	0	0	1	0	0	0	5136	420	15	4	1073	4	ENPP6	4	185074851	Missense_Mutation	SNP	A	TCGA-N8-A4PP-01A-11D-A28R-08	101794967	185074851	6079425	40	2901										
FASTKD3	79072	broad.mit.edu	37	chr5	7863053	7863053	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	agaatccacaggggtctccaGggaacagcatggggtaagaa	14	8	1	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:7863053G>C	ENST00000264669.5	-	4	1718	c.1582C>G	c.(1582-1584)Ctg>Gtg	p.L528V	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	528					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGGTCTCCAGGGAACAGCAT	0.378																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1582-1584)Ctg>Gtg		FAST kinase domains 3							142	157	152					5																	7863053		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7863053G>C	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1582C>G	5.37:g.7863053G>C	ENSP00000264669:p.Leu528Val		Somatic				FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	p.L528V	NM_024091.3	NP_076996.2	WXS	Illumina GAIIx	Phase_I	Q14CZ7	FAKD3_HUMAN			4	1718	-			528					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.1582C>G	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.715840	0.30413	.	.	ENSG00000124279	ENST00000264669	T	0.43294	0.95	5.65	1.8	0.24995	FAST kinase-like protein, subdomain 2 (1);	0.161551	0.42172	D	0.000759	T	0.33469	0.0864	M	0.63843	1.955	0.41687	D	0.989329	B	0.30763	0.294	B	0.31016	0.123	T	0.07385	-1.0775	10	0.13108	T	0.6	-7.861	7.5771	0.27942	0.1262:0.0:0.6363:0.2375	.	528	Q14CZ7	FAKD3_HUMAN	V	528	ENSP00000264669:L528V	ENSP00000264669:L528V	L	-	1	2	FASTKD3	7916053	0.768000	0.28519	0.983000	0.44433	0.826000	0.46750	0.561000	0.23515	0.145000	0.18977	-0.152000	0.13540	CTG		0.378	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		71	167	0	0	0	1	0	71	167					C	7863053	G	C	7863053	3	2	30	1	0	0	0	0	1	0	0	0	5695	991	35	5	422	5	FASTKD3	5	7863053	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08		7863053	173052207	41	2902										
ZNF622	90441	broad.mit.edu	37	chr5	16463618	16463618	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tttaatcagtcccttaatatCtgaaagatattctatatcag	4	7	4	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:16463618C>G	ENST00000308683.2	-	2	985	c.859G>C	c.(859-861)Gat>Cat	p.D287H		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	287					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCCTTAATATCTGAAAGATAT	0.368																																						ENST00000308683.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(859-861)Gat>Cat		zinc finger protein 622							72	78	76					5																	16463618		2203	4300	6503	SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16463618C>G	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.859G>C	5.37:g.16463618C>G	ENSP00000310042:p.Asp287His		Somatic					p.D287H	NM_033414.2	NP_219482.1	WXS	Illumina GAIIx	Phase_I	Q969S3	ZN622_HUMAN			2	985	-			287						Missense_Mutation	SNP	ENST00000308683.2	37	c.859G>C	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651640	0.88056	.	.	ENSG00000173545	ENST00000308683	T	0.48201	0.82	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.77452	0.4132	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81462	-0.0922	10	0.87932	D	0	2.5812	20.2664	0.98460	0.0:1.0:0.0:0.0	.	287	Q969S3	ZN622_HUMAN	H	287	ENSP00000310042:D287H	ENSP00000310042:D287H	D	-	1	0	ZNF622	16516618	1.000000	0.71417	0.727000	0.30756	0.984000	0.73092	7.227000	0.78070	2.786000	0.95864	0.561000	0.74099	GAT		0.368	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		15	84	0	0	0	1	0	15	84					G	16463618	C	G	16463618	3	3	30	1	0	0	0	0	1	0	0	0	18061	913	32	2	594	2	ZNF622	5	16463618	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	8600565	16463618	164451642	42	2903										
RASA1	5921	broad.mit.edu	37	chr5	86668014	86668014	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	caataaacgccttcgtcaggTgaagcttaattttcttggat	8	8	2	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:86668014T>C	ENST00000274376.6	+	13	2340		c.e13+2		RASA1_ENST00000512763.1_Splice_Site|RASA1_ENST00000456692.2_Splice_Site|RASA1_ENST00000506290.1_Splice_Site	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1						blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTTCGTCAGGTGAAGCTTAAT	0.363																																						ENST00000456692.2																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.e13+2		RAS p21 protein activator (GTPase activating protein) 1							78	79	79					5																	86668014		2203	4300	6503	SO:0001630	splice_region_variant	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86668014T>C		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1776+2T>C	5.37:g.86668014T>C			Somatic				RASA1_ENST00000506290.1_Splice_Site|RASA1_ENST00000512763.1_Splice_Site|RASA1_ENST00000274376.6_Splice_Site		NM_022650.2	NP_072179.1	WXS	Illumina GAIIx	Phase_I	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	13	1360	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)						B2R6W3|Q9UDI1	Splice_Site	SNP	ENST00000274376.6	37		CCDS34200.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.509617	0.85282	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2111	0.73225	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RASA1	86703770	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	7.518000	0.81795	1.993000	0.58246	0.455000	0.32223	.		0.363	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890	Intron	10	17	0	0	0	1	0	10	17					C	86668014	T	C	86668014	5	2	30	1	0	0	0	0	0	0	1	0	13075	1710	59	4	1840	4	RASA1	5	86668014	Splice_Site	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08	70204396	86668014	94247246	43	2904										
PJA2	9867	broad.mit.edu	37	chr5	108680479	108680479	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ctagctggtggattggccacCtcaacatccactgcaagaga	10	12	1	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:108680479C>G	ENST00000361189.2	-	8	2045	c.1806G>C	c.(1804-1806)gaG>gaC	p.E602D	PJA2_ENST00000361557.3_Missense_Mutation_p.E602D	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	602	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		GATTGGCCACCTCAACATCCA	0.408																																						ENST00000361189.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1804-1806)gaG>gaC		praja ring finger 2, E3 ubiquitin protein ligase							120	121	121					5																	108680479		2202	4300	6502	SO:0001583	missense	9867				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	g.chr5:108680479C>G	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"RING-type (C3HC4) zinc fingers"	17481	protein-coding gene	gene with protein product			"ring finger protein 131", "praja ring finger 2"	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.1806G>C	5.37:g.108680479C>G	ENSP00000354775:p.Glu602Asp		Somatic				PJA2_ENST00000361557.3_Missense_Mutation_p.E602D	p.E602D	NM_014819.4	NP_055634.3	WXS	Illumina GAIIx	Phase_I	O43164	PJA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	8	2045	-		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)	602			Interaction with PRKAR1A, PRKAR2A and PRKAR2B.		A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	c.1806G>C	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976287	0.74360	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.11821	2.74;2.74	5.98	1.86	0.25419	.	0.074724	0.53938	D	0.000042	T	0.10465	0.0256	N	0.19112	0.55	0.34743	D	0.730956	P	0.36647	0.563	B	0.43331	0.416	T	0.21930	-1.0231	10	0.56958	D	0.05	-16.4297	6.3813	0.21536	0.1261:0.5197:0.0:0.3542	.	602	O43164	PJA2_HUMAN	D	602	ENSP00000354775:E602D;ENSP00000355284:E602D	ENSP00000354775:E602D	E	-	3	2	PJA2	108708378	0.925000	0.31364	1.000000	0.80357	0.995000	0.86356	0.426000	0.21363	0.442000	0.26555	0.591000	0.81541	GAG		0.408	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		9	87	0	0	0	1	0	9	87					G	108680479	C	G	108680479	3	3	30	1	0	0	0	0	1	0	0	0	11971	680	24	5	332	5	PJA2	5	108680479	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	22012465	108680479	72234781	44	2905										
PPIC	5480	broad.mit.edu	37	chr5	122365082	122365082	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	caatcacaattctgccaacaTctttgtctccaatcctcaca	2	15	5	0	rs45449493	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:122365082T>C	ENST00000306442.4	-	2	264	c.149A>G	c.(148-150)gAt>gGt	p.D50G		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	50	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)	TCTGCCAACATCTTTGTCTCC	0.398																																					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.(148-150)gAt>gGt		peptidylprolyl isomerase C (cyclophilin C)	L-Proline(DB00172)						121	121	121					5																	122365082		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.chr5:122365082T>C	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.149A>G	5.37:g.122365082T>C	ENSP00000303057:p.Asp50Gly		Somatic					p.D50G	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)	2	264	-		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	50			PPIase cyclophilin-type.		A4LBB5	Missense_Mutation	SNP	ENST00000306442.4	37	c.149A>G	CCDS4133.1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883824	0.72410	.	.	ENSG00000168938	ENST00000306442	T	0.35973	1.28	5.9	5.9	0.94986	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.199169	0.51477	D	0.000084	T	0.48696	0.1514	L	0.37507	1.11	0.80722	D	1	D;B	0.71674	0.998;0.072	P;B	0.61477	0.889;0.152	T	0.48969	-0.8987	10	0.72032	D	0.01	.	16.3318	0.83023	0.0:0.0:0.0:1.0	.	50;50	B4E200;P45877	.;PPIC_HUMAN	G	50	ENSP00000303057:D50G	ENSP00000303057:D50G	D	-	2	0	PPIC	122392981	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.698000	0.84413	2.248000	0.74166	0.460000	0.39030	GAT		0.398	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	NM_000943		10	69	0	0	0	1	0	10	69					C	122365082	T	C	122365082	3	2	30	1	0	0	0	0	1	0	0	0	12332	1435	50	4	505	4	PPIC	5	122365082	Missense_Mutation	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08	13684603	122365082	58550178	45	2906										
PCDHA9	9752	broad.mit.edu	37	chr5	140229832	140229832	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	agcgagatggtgctgcggtcGgtgggcgccggcgtagtggt	21	8	0	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:140229832G>A	ENST00000532602.1	+	1	2785	c.1752G>A	c.(1750-1752)tcG>tcA	p.S584S	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.S584S|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	584					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)			TGCTGCGGTCGGTGGGCGCCG	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.(1750-1752)tcG>tcA									52	59	56					5																	140229832		2196	4268	6464	SO:0001819	synonymous_variant	0							g.chr5:140229832G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1752G>A	5.37:g.140229832G>A			Somatic				PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.S584S|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.S584S	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	2476	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1752G>A	CCDS54920.1																																																																																				0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		58	130	0	0	0	1	0	58	130					A	140229832	G	A	140229832	2	1	30	1	0	0	0	0	0	0	0	1	11540	1103	39	1		1	PCDHA9	5	140229832	Silent	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	17864750	140229832	40685428	46	2907										
PDGFRB	5159	broad.mit.edu	37	chr5	149503887	149503887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gactcatgatcttcagctccGacataagggcttgcttctca	8	12	4	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:149503887G>A	ENST00000261799.4	-	14	2418	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	650	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCAGCTCCGACATAAGGGC	0.637			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(1948-1950)tCg>tTg		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						92	72	79					5																	149503887		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149503887G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1949C>T	5.37:g.149503887G>A	ENSP00000261799:p.Ser650Leu		Somatic					p.S650L	NM_002609.3	NP_002600.1	WXS	Illumina GAIIx	Phase_I	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	2418	-		all_hematologic(541;0.224)	650			Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.1949C>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	35	5.590431	0.96590	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.83591	-1.74	5.18	5.18	0.71444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45361	D	0.000363	D	0.89273	0.6668	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90297	0.4327	10	0.87932	D	0	.	18.685	0.91560	0.0:0.0:1.0:0.0	.	650;650	A8KAM8;P09619	.;PGFRB_HUMAN	L	650;320	ENSP00000261799:S650L	ENSP00000261799:S650L	S	-	2	0	PDGFRB	149484080	1.000000	0.71417	0.968000	0.41197	0.953000	0.61014	7.876000	0.87215	2.397000	0.81536	0.462000	0.41574	TCG		0.637	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		18	59	0	0	0	1	0	18	59					A	149503887	G	A	149503887	3	1	30	1	0	0	0	0	1	0	0	0	11671	1059	37	1	1411	1	PDGFRB	5	149503887	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	9274055	149503887	31411373	47	2908										
SH3PXD2B	285590	broad.mit.edu	37	chr5	171849420	171849420	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	cagagacctcaaatccttacCtggaggtcaaaaaacttgct	7	11	2	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:171849420C>T	ENST00000311601.5	-	2	326	c.156G>A	c.(154-156)caG>caA	p.Q52Q	SH3PXD2B_ENST00000519643.1_Splice_Site_p.Q52Q	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	52	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)			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)			AAATCCTTACCTGGAGGTCAA	0.498																																						ENST00000311601.5																			0				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.e2+1		SH3 and PX domains 2B							37	35	36					5																	171849420		2203	4299	6502	SO:0001630	splice_region_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.chr5:171849420C>T	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.156+1G>A	5.37:g.171849420C>T			Somatic				SH3PXD2B_ENST00000519643.1_Splice_Site_p.Q52_splice	p.Q52_splice	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)		2	326	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	52			PX.		B6F0V2|Q9P2Q1	Splice_Site	SNP	ENST00000311601.5	37	c.156_splice	CCDS34291.1																																																																																				0.498	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963	Silent	4	15	0	0	0	1	0	4	15					T	171849420	C	T	171849420	5	4	30	1	0	0	0	0	0	0	1	0	14272	695	24	3	2627	3	SH3PXD2B	5	171849420	Splice_Site	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	22345533	171849420	9065840	48	2909										
NRN1	51299	broad.mit.edu	37	chr6	6002646	6002646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gcgggtagttggccatgctgTcgcccagcttgagcaaacag	14	11	0	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:6002646T>C	ENST00000244766.2	-	2	357	c.140A>G	c.(139-141)gAc>gGc	p.D47G	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	47					nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		GGCCATGCTGTCGCCCAGCTT	0.612																																						ENST00000244766.2																			0				endometrium(2)|large_intestine(2)|lung(4)	8						c.(139-141)gAc>gGc		neuritin 1							156	132	140					6																	6002646		2203	4300	6503	SO:0001583	missense	51299					anchored to membrane|plasma membrane		g.chr6:6002646T>C	AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.140A>G	6.37:g.6002646T>C	ENSP00000244766:p.Asp47Gly		Somatic				NRN1_ENST00000495850.1_5'UTR	p.D47G	NM_016588.2	NP_057672.1	WXS	Illumina GAIIx	Phase_I	Q9NPD7	NRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.00415)	2	357	-	Ovarian(93;0.0816)	all_hematologic(90;0.151)	47					B2RA93|Q7Z4Y1	Missense_Mutation	SNP	ENST00000244766.2	37	c.140A>G	CCDS4495.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.327165	0.60743	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.24	4.24	0.50183	.	0.061505	0.64402	D	0.000005	T	0.45054	0.1323	M	0.61703	1.905	0.47949	D	0.999552	B	0.25609	0.13	B	0.23574	0.047	T	0.56823	-0.7915	9	0.72032	D	0.01	-8.6127	11.209	0.48786	0.0:0.0:0.0:1.0	.	47	Q9NPD7	NRN1_HUMAN	G	47	.	ENSP00000244766:D47G	D	-	2	0	NRN1	5947645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.904000	0.63279	1.773000	0.52216	0.379000	0.24179	GAC		0.612	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1			33	146	0	0	0	1	0	33	146					C	6002646	T	C	6002646	3	2	30	1	0	0	0	0	1	0	0	0	10667	1667	58	4	296	4	NRN1	6	6002646	Missense_Mutation	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08		6002646	165112421	49	2910										
TDRD6	221400	broad.mit.edu	37	chr6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A													0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tcttaactggtataatccagINSaaaaaaaaatgataagagct					rs145334816		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4549-4551)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs		Somatic				TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	p.K1517fs	NM_001168359.1	NP_001161831.1	WXS	Illumina GAIIx	Phase_I	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4803_4804	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		7	73						7	73	---	---	---	---	A	46660415	-	A	46660414	7	5	30	1	0	1	1	0	0	0	0	0	15749	943	33	0	4551	0	TDRD6	6	46660414	Frame_Shift_Ins	INS	-	TCGA-N8-A4PP-01A-11D-A28R-08	40657768	46660414	124454653	50	2911										
RRAGD	58528	broad.mit.edu	37	chr6	90121645	90121647	+	In_Frame_Del	DEL	TCC	TCC	-													0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ccgctagccccaccagctcaTcctcctcctcctcctcctcc							TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:90121645_90121647delTCC	ENST00000369415.4	-	1	342_344	c.66_68delGGA	c.(64-69)gaggat>gat	p.E22del	RRAGD_ENST00000492783.1_5'Flank|RRAGD_ENST00000359203.3_5'UTR	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CACCAGctcatcctcctcctcct	0.754																																						ENST00000369415.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(64-69)gat>ga		Ras-related GTP binding D				97,9,3788		4,0,89,2,5,1847						0.6	1			17	184,8,7442		9,0,166,1,6,3635	no	codingComplex	RRAGD	NM_021244.4		13,0,255,3,11,5482	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5151,2.7221,2.585				281,17,11230				SO:0001651	inframe_deletion	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90121645_90121647delTCC	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.66_68delGGA	6.37:g.90121654_90121656delTCC	ENSP00000358423:p.Glu22del		Somatic				RRAGD_ENST00000359203.2_5'UTR	p.ED22del	NM_021244.4	NP_067067.1	WXS	Illumina GAIIx	Phase_I	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	1	342_344	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	22						In_Frame_Del	DEL	ENST00000369415.4	37	c.66_68delGGA	CCDS5022.1																																																																																				0.754	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		3	4						3	4	---	---	---	---	-	90121647	TCC	-	90121645	7	5	30	1	0	1	0	1	0	0	0	0	13690	1435	50	0	1162	0	RRAGD	6	90121645	In_Frame_Del	DEL	TCC	TCGA-N8-A4PP-01A-11D-A28R-08	43461231	90121645	80993422	51	2912										
EPB41L2	2037	broad.mit.edu	37	chr6	131199330	131199330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tgtggattccataaaattgcGcttgagttcactaatgctag	9	7	1	1	rs374441396		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:131199330G>A	ENST00000337057.3	-	14	2138	c.1957C>T	c.(1957-1959)Cgc>Tgc	p.R653C	EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R653C|EPB41L2_ENST00000530757.1_Missense_Mutation_p.R52C|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.R31C|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	653	Spectrin--actin-binding.				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)		ATAAAATTGCGCTTGAGTTCA	0.458																																						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.(1957-1959)Cgc>Tgc		erythrocyte membrane protein band 4.1-like 2		G	,,,,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	205	172	183		,,,,1957	5.7	1	6		183	0,8600		0,0,4300	no	intron,intron,intron,intron,missense	EPB41L2	NM_001135554.1,NM_001135555.2,NM_001199388.1,NM_001199389.1,NM_001431.3	,,,,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,probably-damaging	,,,,653/1006	131199330	1,13005	2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131199330G>A	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.1957C>T	6.37:g.131199330G>A	ENSP00000338481:p.Arg653Cys		Somatic				EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000530757.1_Missense_Mutation_p.R52C|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R653C|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.R31C|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527659.1_Intron	p.R653C	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)	14	2138	-	Breast(56;0.0639)		653			Spectrin--actin-binding.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.1957C>T	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.437709|4.437709	0.83885|0.83885	2.27E-4|2.27E-4	0.0|0.0	ENSG00000079819|ENSG00000079819	ENST00000456097|ENST00000337057;ENST00000530757;ENST00000368128;ENST00000524581;ENST00000527017;ENST00000527423;ENST00000525198	.|D;D;D;D;T	.|0.89196	.|-2.48;-1.86;-2.48;-2.02;1.8	5.74|5.74	5.74|5.74	0.90152|0.90152	.|SAB (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94231|0.94231	0.8148|0.8148	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.975;0.999	D|D	0.93859|0.93859	0.7152|0.7152	5|10	.|0.62326	.|D	.|0.03	.|.	19.9254|19.9254	0.97100|0.97100	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|653;31	.|O43491;Q6R5J7	.|E41L2_HUMAN;.	V|C	143|653;52;653;31;31;52;31	.|ENSP00000338481:R653C;ENSP00000436349:R52C;ENSP00000357110:R653C;ENSP00000437207:R31C;ENSP00000437295:R52C	.|ENSP00000338481:R653C	A|R	-|-	2|1	0|0	EPB41L2|EPB41L2	131241023|131241023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.014000|6.014000	0.70784|0.70784	2.710000|2.710000	0.92621|0.92621	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.458	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			20	28	0	0	0	1	0	20	28					A	131199330	G	A	131199330	3	1	30	1	0	0	0	0	1	0	0	0	5155	1087	38	1	1084	1	EPB41L2	6	131199330	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	41077685	131199330	39915737	52	2913										
RAET1E	135250	broad.mit.edu	37	chr6	150210552	150210552	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	agtgatcgcagtctccctttGagagcttcctgaaatacttt	8	10	1	3			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:150210552G>T	ENST00000357183.4	-	3	686	c.554C>A	c.(553-555)tCa>tAa	p.S185*	RAET1E-AS1_ENST00000446954.2_RNA|RAET1E_ENST00000532335.1_Nonsense_Mutation_p.S185*|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000529948.1_Nonsense_Mutation_p.S185*|RAET1E_ENST00000367363.3_Nonsense_Mutation_p.S149*	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	185	MHC class I alpha-2 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)		GTCTCCCTTTGAGAGCTTCCT	0.493																																						ENST00000532335.1																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10						c.(553-555)tCa>tAa		retinoic acid early transcript 1E							140	133	135					6																	150210552		2203	4300	6503	SO:0001587	stop_gained	135250				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150210552G>T	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.554C>A	6.37:g.150210552G>T	ENSP00000349709:p.Ser185*		Somatic				RAET1E_ENST00000367363.3_Nonsense_Mutation_p.S149*|RAET1E_ENST00000357183.4_Nonsense_Mutation_p.S185*|RAET1E_ENST00000529948.1_Nonsense_Mutation_p.S185*|RP11-244K5.1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA	p.S185*	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)	4	900	-		Ovarian(120;0.0907)	185			MHC class I alpha-2 like.		A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Nonsense_Mutation	SNP	ENST00000357183.4	37	c.554C>A	CCDS5221.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997759	0.35226	.	.	ENSG00000164520	ENST00000532335;ENST00000357183;ENST00000367363;ENST00000529948	.	.	.	3.81	2.94	0.34122	.	0.794643	0.10697	N	0.644518	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2001	7.7309	0.28786	0.115:0.0:0.885:0.0	.	.	.	.	X	185;185;149;185	.	ENSP00000349709:S185X	S	-	2	0	RAET1E	150252245	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	0.922000	0.28734	1.190000	0.43042	0.585000	0.79938	TCA		0.493	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		43	45	1	0	1.8453e-21	1	2.12527e-21	43	45					T	150210552	G	T	150210552	4	4	30	1	0	0	0	0	0	1	0	0	13014	1294	45	2	245	2	RAET1E	6	150210552	Nonsense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	19011222	150210552	20904515	53	2914										
GET4	51608	broad.mit.edu	37	chr7	933563	933563	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	accgcataggacagctgttcTtcggcgtcccgcccaagcag	11	15	1	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:933563T>G	ENST00000265857.3	+	8	944	c.850T>G	c.(850-852)Ttc>Gtc	p.F284V	GET4_ENST00000407192.1_Missense_Mutation_p.F231V	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	284					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACAGCTGTTCTTCGGCGTCCC	0.692																																						ENST00000407192.1																			0				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(691-693)Ttc>Gtc		golgi to ER traffic protein 4 homolog (S. cerevisiae)							49	45	46					7																	933563		2202	4299	6501	SO:0001583	missense	51608				tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding	g.chr7:933563T>G	AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"CGI-20 protein", "conserved edge protein", "transmembrane domain recognition complex, 35kDa"	612056	"chromosome 7 open reading frame 20"	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.850T>G	7.37:g.933563T>G	ENSP00000265857:p.Phe284Val		Somatic				GET4_ENST00000265857.3_Missense_Mutation_p.F284V	p.F231V			WXS	Illumina GAIIx	Phase_I	Q7L5D6	GET4_HUMAN			7	3208	+			284					A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Missense_Mutation	SNP	ENST00000265857.3	37	c.691T>G	CCDS5317.1	.	.	.	.	.	.	.	.	.	.	t	20.2	3.942696	0.73672	.	.	ENSG00000239857	ENST00000265857;ENST00000407192	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.84042	0.5385	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87512	0.2440	9	0.87932	D	0	-34.951	14.6269	0.68626	0.0:0.0:0.0:1.0	.	284	Q7L5D6	GET4_HUMAN	V	284;231	.	ENSP00000265857:F284V	F	+	1	0	GET4	900089	1.000000	0.71417	0.990000	0.47175	0.008000	0.06430	7.415000	0.80131	1.860000	0.53959	0.398000	0.26397	TTC		0.692	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000231930.1	NM_015949		12	34	0	0	0	1	0	12	34					G	933563	T	G	933563	3	3	30	1	0	0	0	0	1	0	0	0	6344	1609	56	4	880	4	GET4	7	933563	Missense_Mutation	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08		933563	158205100	54	2915										
MIOS	54468	broad.mit.edu	37	chr7	7625282	7625282	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tgcaggagatctgaatctcaAtgtggtagcaatggctttat	11	6	2	2	rs370610296		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:7625282A>G	ENST00000340080.4	+	7	2085	c.1664A>G	c.(1663-1665)aAt>aGt	p.N555S	MIOS_ENST00000405785.1_Missense_Mutation_p.N555S	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	555						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						CTGAATCTCAATGTGGTAGCA	0.368																																						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.(1663-1665)aAt>aGt		missing oocyte, meiosis regulator, homolog (Drosophila)		A	SER/ASN	0,3688		0,0,1844	139	130	133		1664	5.4	1	7		133	1,8185		0,1,4092	no	missense	MIOS	NM_019005.3	46	0,1,5936	GG,GA,AA		0.0122,0.0,0.0084	benign	555/876	7625282	1,11873	1844	4093	5937	SO:0001583	missense	54468							g.chr7:7625282A>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.1664A>G	7.37:g.7625282A>G	ENSP00000339881:p.Asn555Ser		Somatic				MIOS_ENST00000405785.1_Missense_Mutation_p.N555S	p.N555S	NM_019005.3	NP_061878.3	WXS	Illumina GAIIx	Phase_I	Q9NXC5	MIO_HUMAN			7	2085	+			555					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.1664A>G	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.491305	0.64074	0.0	1.22E-4	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.41758	0.99;0.99	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.29908	0.895	0.80722	D	1	B	0.28820	0.224	B	0.32805	0.153	T	0.08994	-1.0695	10	0.08599	T	0.76	-29.3548	15.832	0.78760	1.0:0.0:0.0:0.0	.	555	Q9NXC5	MIO_HUMAN	S	555	ENSP00000339881:N555S;ENSP00000384088:N555S	ENSP00000339881:N555S	N	+	2	0	MIOS	7591807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.084000	0.76866	2.197000	0.70478	0.533000	0.62120	AAT		0.368	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		53	66	0	0	0	1	0	53	66					G	7625282	A	G	7625282	3	3	30	1	0	0	0	0	1	0	0	0	9598	101	4	4	1678	4	MIOS	7	7625282	Missense_Mutation	SNP	A	TCGA-N8-A4PP-01A-11D-A28R-08	6691719	7625282	151513381	55	2916										
AMPH	273	broad.mit.edu	37	chr7	38431442	38431442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gctggtgcagaaggcgtgggCtgagggtcctggataggctt	19	7	0	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:38431442C>T	ENST00000356264.2	-	19	2000	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	AMPH_ENST00000428293.2_Silent_p.Q553Q|AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000325590.5_Silent_p.Q553Q	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	595					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AAGGCGTGGGCTGAGGGTCCT	0.632																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1783-1785)caG>caA		amphiphysin							54	50	51					7																	38431442		2203	4300	6503	SO:0001819	synonymous_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38431442C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1785G>A	7.37:g.38431442C>T			Somatic				AMPH_ENST00000428293.2_Silent_p.Q553Q|AMPH_ENST00000325590.5_Silent_p.Q553Q	p.Q595Q	NM_001635.3	NP_001626.1	WXS	Illumina GAIIx	Phase_I	P49418	AMPH_HUMAN			19	2000	-			595					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	c.1785G>A	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	6.045	0.376576	0.11466	.	.	ENSG00000078053	ENST00000441628	.	.	.	5.32	3.33	0.38152	.	.	.	.	.	T	0.61375	0.2342	.	.	.	0.44570	D	0.997536	.	.	.	.	.	.	T	0.56159	-0.8025	4	.	.	.	-3.1787	10.6677	0.45741	0.0:0.7719:0.0:0.2281	.	.	.	.	T	478	.	.	A	-	1	0	AMPH	38397967	0.213000	0.23551	0.055000	0.19348	0.064000	0.16182	0.519000	0.22862	0.512000	0.28257	0.591000	0.81541	GCC		0.632	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		20	74	0	0	0	1	0	20	74					T	38431442	C	T	38431442	2	4	30	1	0	0	0	0	0	0	0	1	588	796	28	3		3	AMPH	7	38431442	Silent	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	30806160	38431442	120707221	56	2917										
ABCA13	154664	broad.mit.edu	37	chr7	48319344	48319344	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tttcagccactttttgagatTttcattaaagcaaccaccgg	6	10	2	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:48319344T>C	ENST00000435803.1	+	18	8577	c.8553T>C	c.(8551-8553)atT>atC	p.I2851I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2851					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						TTTTTGAGATTTTCATTAAAG	0.348																																						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.(8551-8553)atT>atC		ATP-binding cassette, sub-family A (ABC1), member 13							94	96	95					7																	48319344		1808	4080	5888	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48319344T>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.8553T>C	7.37:g.48319344T>C			Somatic					p.I2851I	NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	Q86UQ4	ABCAD_HUMAN			18	8577	+			2851					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.8553T>C	CCDS47584.1																																																																																				0.348	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		24	94	0	0	0	1	0	24	94					C	48319344	T	C	48319344	2	2	30	1	0	0	0	0	0	0	0	1	31	1829	64	4		4	ABCA13	7	48319344	Silent	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08	9887902	48319344	110819319	57	2918										
CACNA2D1	781	broad.mit.edu	37	chr7	81591249	81591249	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ctaatacaccactgaatgatTtactgtcgttatcgaagaaa	6	8	0	3			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:81591249T>C	ENST00000356253.5	-	36	3218	c.2963A>G	c.(2962-2964)aAa>aGa	p.K988R	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.K188R|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.K976R			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	988					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)	ACTGAATGATTTACTGTCGTT	0.388																																						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.(2926-2928)aAa>aGa		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						126	115	119					7																	81591249		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81591249T>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.2963A>G	7.37:g.81591249T>C	ENSP00000348589:p.Lys988Arg		Somatic				CACNA2D1_ENST00000535308.1_Missense_Mutation_p.K188R|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.K988R	p.K976R	NM_000722.2	NP_000713.2	WXS	Illumina GAIIx	Phase_I	P54289	CA2D1_HUMAN			36	3265	-			988					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2927A>G		.	.	.	.	.	.	.	.	.	.	T	11.68	1.711702	0.30322	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.69806	-0.43;-0.43;-0.43	5.19	5.19	0.71726	.	0.097959	0.64402	D	0.000001	T	0.49457	0.1558	N	0.22421	0.69	0.25631	N	0.986304	B;B	0.20261	0.043;0.007	B;B	0.18871	0.023;0.011	T	0.32929	-0.9888	10	0.25106	T	0.35	-27.0485	9.8558	0.41084	0.0:0.0773:0.0:0.9227	.	188;976	B7Z658;P54289-2	.;.	R	976;995;988;188	ENSP00000349320:K976R;ENSP00000348589:K988R;ENSP00000443124:K188R	ENSP00000284088:K995R	K	-	2	0	CACNA2D1	81429185	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.247000	0.43151	2.093000	0.63338	0.529000	0.55759	AAA		0.388	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				4	65	0	0	0	1	0	4	65					C	81591249	T	C	81591249	3	2	30	1	0	0	0	0	1	0	0	0	2550	1841	64	4	364	4	CACNA2D1	7	81591249	Missense_Mutation	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08	33271905	81591249	77547414	58	2919										
PCLO	27445	broad.mit.edu	37	chr7	82784272	82784272	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gctgcagaggttttccagatCctgtttggcttactggtttt	11	8	0	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:82784272C>G	ENST00000333891.9	-	2	2022	c.1685G>C	c.(1684-1686)gGa>gCa	p.G562A	PCLO_ENST00000423517.2_Missense_Mutation_p.G562A	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						TTTTCCAGATCCTGTTTGGCT	0.522																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1684-1686)gGa>gCa		piccolo presynaptic cytomatrix protein							313	312	313					7																	82784272		1990	4170	6160	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.chr7:82784272C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1685G>C	7.37:g.82784272C>G	ENSP00000334319:p.Gly562Ala		Somatic				PCLO_ENST00000333891.8_Missense_Mutation_p.G562A	p.G562A	NM_014510.2	NP_055325.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			2	2022	-			508			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1685G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	5.542	0.284918	0.10513	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17213	2.29;2.29	5.6	0.948	0.19561	.	.	.	.	.	T	0.09247	0.0228	N	0.24115	0.695	0.22779	N	0.998742	B;B	0.10296	0.003;0.003	B;B	0.09377	0.003;0.004	T	0.35943	-0.9768	9	0.87932	D	0	.	0.2159	0.00162	0.2444:0.2805:0.1548:0.3202	.	562;562	Q9Y6V0-5;Q9Y6V0-6	.;.	A	508;562;562	ENSP00000334319:G562A;ENSP00000388393:G562A	ENSP00000334319:G562A	G	-	2	0	PCLO	82622208	0.027000	0.19231	0.808000	0.32385	0.065000	0.16274	0.204000	0.17335	0.625000	0.30304	0.650000	0.86243	GGA		0.522	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		22	456	0	0	0	1	0	22	456					G	82784272	C	G	82784272	3	3	30	1	0	0	0	0	1	0	0	0	11592	855	30	2	13856	2	PCLO	7	82784272	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	1193023	82784272	76354391	59	2920										
MUC17	140453	broad.mit.edu	37	chr7	100683137	100683137	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	aaacaagtactccattaactAgtatgcctgtcaaccacacg	5	12	1	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:100683137A>T	ENST00000306151.4	+	3	8504	c.8440A>T	c.(8440-8442)Agt>Tgt	p.S2814C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2814	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)					TCCATTAACTAGTATGCCTGT	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.(8440-8442)Agt>Tgt		mucin 17, cell surface associated							242	246	245					7																	100683137		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683137A>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.8440A>T	7.37:g.100683137A>T	ENSP00000302716:p.Ser2814Cys		Somatic					p.S2814C	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	8504	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2814			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8440A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	5.421	0.262807	0.10294	.	.	ENSG00000169876	ENST00000306151	T	0.02421	4.3	0.679	-1.36	0.09085	.	.	.	.	.	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	1	D	0.63046	0.992	P	0.60117	0.869	T	0.39014	-0.9634	9	0.56958	D	0.05	.	1.3865	0.02241	0.3981:0.0:0.2707:0.3311	.	2814	Q685J3	MUC17_HUMAN	C	2814	ENSP00000302716:S2814C	ENSP00000302716:S2814C	S	+	1	0	MUC17	100469857	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.056000	0.03489	-0.573000	0.05998	0.113000	0.15668	AGT		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		137	520	0	0	0	1	0	137	520					T	100683137	A	T	100683137	3	4	30	1	0	0	0	0	1	0	0	0	9983	420	15	4	8450	4	MUC17	7	100683137	Missense_Mutation	SNP	A	TCGA-N8-A4PP-01A-11D-A28R-08	17898865	100683137	58455526	60	2921										
PIK3CG	5294	broad.mit.edu	37	chr7	106508093	106508093	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	atgaagccgcgcagtgctgcGgccagcctgtcctccatgga	13	14	0	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:106508093G>A	ENST00000359195.3	+	2	397	c.87G>A	c.(85-87)gcG>gcA	p.A29A	PIK3CG_ENST00000440650.2_Silent_p.A29A|PIK3CG_ENST00000496166.1_Silent_p.A29A	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	29					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCAGTGCTGCGGCCAGCCTGT	0.637																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(85-87)gcG>gcA		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							42	47	46					7																	106508093		2203	4296	6499	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508093G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.87G>A	7.37:g.106508093G>A			Somatic				PIK3CG_ENST00000496166.1_Silent_p.A29A|PIK3CG_ENST00000440650.2_Silent_p.A29A	p.A29A	NM_002649.2	NP_002640.2	WXS	Illumina GAIIx	Phase_I	P48736	PK3CG_HUMAN			2	397	+			29					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.87G>A	CCDS5739.1																																																																																				0.637	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			19	140	0	0	0	1	0	19	140					A	106508093	G	A	106508093	2	1	30	1	0	0	0	0	0	0	0	1	11925	1103	39	1		1	PIK3CG	7	106508093	Silent	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	5824956	106508093	52630570	61	2922										
TBXAS1	6916	broad.mit.edu	37	chr7	139717541	139717550	+	Frame_Shift_Del	DEL	TGCCTCGGGG	TGCCTCGGGG	-													0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tcggggccggcccacggagcTgcctcggggtgcgtctaggg					rs199422116		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:139717541_139717550delTGCCTCGGGG	ENST00000336425.5	+	16	1824_1833	c.1435_1444delTGCCTCGGGG	c.(1435-1446)tgcctcggggtgfs	p.CLGV479fs	TBXAS1_ENST00000416849.2_Frame_Shift_Del_p.CLGV526fs|TBXAS1_ENST00000411653.1_Intron|TBXAS1_ENST00000436047.2_Frame_Shift_Del_p.CLGV480fs|TBXAS1_ENST00000425687.1_Frame_Shift_Del_p.CLGV412fs|TBXAS1_ENST00000458722.1_Frame_Shift_Del_p.CLGV525fs|TBXAS1_ENST00000263552.6_Frame_Shift_Del_p.CLGV480fs|TBXAS1_ENST00000448866.1_Frame_Shift_Del_p.CLGV479fs|TBXAS1_ENST00000414508.2_Intron			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	479					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)	CCCACGGAGCTGCCTCGGGGTGCGTCTAGG	0.681																																						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	GRCh37	CM080566	TBXAS1	M		c.(1438-1449)tgfs		thromboxane A synthase 1 (platelet)																																				SO:0001589	frameshift_variant	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.chr7:139717541_139717550delTGCCTCGGGG	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	ENST00000336425.5:c.1435_1444delTGCCTCGGGG	7.37:g.139717541_139717550delTGCCTCGGGG	ENSP00000338087:p.Cys479fs		Somatic				TBXAS1_ENST00000458722.1_Frame_Shift_Del_p.CLGV525fs|TBXAS1_ENST00000411653.1_Intron|TBXAS1_ENST00000336425.5_Frame_Shift_Del_p.CLGV479fs|TBXAS1_ENST00000436047.2_Frame_Shift_Del_p.CLGV480fs|TBXAS1_ENST00000425687.1_Frame_Shift_Del_p.CLGV412fs|TBXAS1_ENST00000448866.1_Frame_Shift_Del_p.CLGV479fs|TBXAS1_ENST00000414508.2_Intron|TBXAS1_ENST00000416849.2_Frame_Shift_Del_p.CLGV526fs	p.CLGV480fs	NM_001130966.2	NP_001124438.1	WXS	Illumina GAIIx	Phase_I	P24557	THAS_HUMAN			16	1976_1985	+	Melanoma(164;0.0142)		479					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Frame_Shift_Del	DEL	ENST00000336425.5	37	c.1438_1447delTGCCTCGGGG																																																																																					0.681	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			13	111						13	111	---	---	---	---	-	139717550	TGCCTCGGGG	-	139717541	7	5	30	1	0	1	0	1	0	0	0	0	15679	1580	55	0	1626	0	TBXAS1	7	139717541	Frame_Shift_Del	DEL	TGCCTCGGGG	TCGA-N8-A4PP-01A-11D-A28R-08	33209448	139717541	19421122	62	2923										
PLAG1	5324	broad.mit.edu	37	chr8	57079313	57079313	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	aactgaacggatatttgaaaGaaaggtggtgagagggatga	15	2	0	5			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr8:57079313G>T	ENST00000316981.3	-	5	1471	c.992C>A	c.(991-993)tCt>tAt	p.S331Y	PLAG1_ENST00000423799.2_Missense_Mutation_p.S249Y|PLAG1_ENST00000429357.2_Missense_Mutation_p.S331Y	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	331	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			ATATTTGAAAGAAAGGTGGTG	0.418			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma																																	ENST00000316981.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"TCEA1, LIFR, CTNNB1, CHCHD7"		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(991-993)tCt>tAt		pleiomorphic adenoma gene 1							140	143	142					8																	57079313		2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079313G>T	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"Zinc fingers, C2H2-type"	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.992C>A	8.37:g.57079313G>T	ENSP00000325546:p.Ser331Tyr		Somatic				PLAG1_ENST00000429357.2_Missense_Mutation_p.S331Y|PLAG1_ENST00000423799.2_Missense_Mutation_p.S249Y	p.S331Y	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	WXS	Illumina GAIIx	Phase_I	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		5	1471	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	331			Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.992C>A	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742663	0.49151	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.12672	2.66;3.33;2.66	5.77	5.77	0.91146	.	0.158909	0.56097	D	0.000021	T	0.19167	0.0460	L	0.40543	1.245	0.58432	D	0.999998	D	0.56968	0.978	P	0.45881	0.496	T	0.00241	-1.1886	10	0.62326	D	0.03	-8.3133	19.9828	0.97334	0.0:0.0:1.0:0.0	.	331	Q6DJT9	PLAG1_HUMAN	Y	331;249;331	ENSP00000325546:S331Y;ENSP00000404067:S249Y;ENSP00000416537:S331Y	ENSP00000325546:S331Y	S	-	2	0	PLAG1	57241867	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	9.476000	0.97823	2.718000	0.92993	0.460000	0.39030	TCT		0.418	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		33	262	1	0	9.78485e-24	1	1.13477e-23	33	262					T	57079313	G	T	57079313	3	4	30	1	0	0	0	0	1	0	0	0	12027	942	33	2	514	2	PLAG1	8	57079313	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08		57079313	89284709	63	2924										
ZFHX4	79776	broad.mit.edu	37	chr8	77767179	77767179	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gtgggtccagcacagtctcaTaaacggtgtccgttttgccg	12	11	1	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr8:77767179T>C	ENST00000521891.2	+	10	8470	c.8022T>C	c.(8020-8022)caT>caC	p.H2674H	ZFHX4_ENST00000518282.1_Silent_p.H2648H|ZFHX4_ENST00000050961.6_Silent_p.H2629H|ZFHX4_ENST00000455469.2_Silent_p.H2629H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2629					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)			CACAGTCTCATAAACGGTGTC	0.542										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.(8020-8022)caT>caC		zinc finger homeobox 4							59	60	60					8																	77767179		1938	4148	6086	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767179T>C		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.8022T>C	8.37:g.77767179T>C		HNSCC(33;0.089)	Somatic				ZFHX4_ENST00000455469.2_Silent_p.H2629H|ZFHX4_ENST00000050961.6_Silent_p.H2629H|ZFHX4_ENST00000518282.1_Silent_p.H2648H	p.H2674H	NM_024721.4	NP_078997.4	WXS	Illumina GAIIx	Phase_I	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8470	+			2629					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.8022T>C	CCDS47878.2																																																																																				0.542	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		23	96	0	0	0	1	0	23	96					C	77767179	T	C	77767179	2	2	30	1	0	0	0	0	0	0	0	1	17650	1403	49	4		4	ZFHX4	8	77767179	Silent	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08	20687866	77767179	68596843	64	2925										
C9orf84	158401	broad.mit.edu	37	chr9	114467555	114467555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tagcagctgaagtatgtctgGagtattaagaagtccttcag	11	6	2	2	rs561422391	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr9:114467555G>A	ENST00000318737.4	-	19	2763	c.2635C>T	c.(2635-2637)Cca>Tca	p.P879S	C9orf84_ENST00000394779.3_Missense_Mutation_p.P840S|C9orf84_ENST00000394777.4_Missense_Mutation_p.P805S|C9orf84_ENST00000374287.3_Missense_Mutation_p.P879S	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	879										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						AGTATGTCTGGAGTATTAAGA	0.338																																						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.(2518-2520)Cca>Tca		chromosome 9 open reading frame 84							55	61	59					9																	114467555		2203	4297	6500	SO:0001583	missense	158401							g.chr9:114467555G>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.2635C>T	9.37:g.114467555G>A	ENSP00000322108:p.Pro879Ser		Somatic				C9orf84_ENST00000394777.4_Missense_Mutation_p.P805S|C9orf84_ENST00000318737.4_Missense_Mutation_p.P879S|C9orf84_ENST00000374287.3_Missense_Mutation_p.P879S	p.P840S	NM_001080551.1	NP_001074020.1	WXS	Illumina GAIIx	Phase_I	Q5VXU9	CI084_HUMAN			17	2762	-			879					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.2518C>T	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322479	0.60634	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.04809	3.55;3.59;3.56;3.56	4.74	3.81	0.43845	.	0.176108	0.27437	N	0.019365	T	0.11836	0.0288	L	0.34521	1.04	0.34444	D	0.699916	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.941;0.999;0.998	T	0.16660	-1.0395	10	0.40728	T	0.16	-6.2124	11.9402	0.52896	0.0:0.0:0.8257:0.1743	.	805;879;840	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	S	840;805;493;879;879	ENSP00000378259:P840S;ENSP00000378257:P805S;ENSP00000363405:P879S;ENSP00000322108:P879S	ENSP00000322108:P879S	P	-	1	0	C9orf84	113507376	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	3.325000	0.52030	0.903000	0.36546	0.650000	0.86243	CCA		0.338	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		7	41	0	0	0	1	0	7	41					A	114467555	G	A	114467555	3	1	30	1	0	0	0	0	1	0	0	0	2502	1174	41	3	1731	3	C9orf84	9	114467555	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08		114467555	26745876	65	2926										
DAB2IP	153090	broad.mit.edu	37	chr9	124535481	124535481	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ggcccggtgagctggcacggCgacagatgtcactgactgaa	15	11	1	4			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr9:124535481C>G	ENST00000408936.3	+	12	2856	c.2674C>G	c.(2674-2676)Cga>Gga	p.R892G	DAB2IP_ENST00000309989.1_Missense_Mutation_p.R768G|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R864G			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	892	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GCTGGCACGGCGACAGATGTC	0.677																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2674-2676)Cga>Gga		DAB2 interacting protein							11	12	11					9																	124535481		2176	4284	6460	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124535481C>G	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2674C>G	9.37:g.124535481C>G	ENSP00000386183:p.Arg892Gly		Somatic				DAB2IP_ENST00000309989.1_Missense_Mutation_p.R768G|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R864G	p.R892G			WXS	Illumina GAIIx	Phase_I	Q5VWQ8	DAB2P_HUMAN			12	2856	+			892					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.2674C>G		.	.	.	.	.	.	.	.	.	.	C	17.34	3.365809	0.61513	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	4.48	2.47	0.30058	.	0.000000	0.52532	D	0.000074	T	0.36552	0.0971	M	0.80422	2.495	0.47905	D	0.999547	D;B	0.69078	0.997;0.023	D;B	0.81914	0.995;0.066	T	0.14587	-1.0467	10	0.72032	D	0.01	.	11.854	0.52427	0.3292:0.6708:0.0:0.0	.	892;864	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	G	864;892;801;768	ENSP00000259371:R864G;ENSP00000386183:R892G;ENSP00000362887:R801G;ENSP00000310827:R768G	ENSP00000259371:R864G	R	+	1	2	DAB2IP	123575302	0.677000	0.27577	0.998000	0.56505	0.947000	0.59692	0.385000	0.20685	0.353000	0.24079	0.305000	0.20034	CGA		0.677	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		3	7	0	0	0	1	0	3	7					G	124535481	C	G	124535481	3	3	30	1	0	0	0	0	1	0	0	0	4221	760	27	5	2636	5	DAB2IP	9	124535481	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	10067926	124535481	16677950	66	2927										
COL5A1	1289	broad.mit.edu	37	chr9	137620521	137620521	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gcaattcgctttcagtacacGgaaggagacggcgagggtga	15	8	1	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr9:137620521G>T	ENST00000371817.3	+	6	1206	c.792G>T	c.(790-792)acG>acT	p.T264T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	264	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTCAGTACACGGAAGGAGACG	0.612																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(790-792)acG>acT		collagen, type V, alpha 1							119	124	122					9																	137620521		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137620521G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.792G>T	9.37:g.137620521G>T			Somatic					p.T264T	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	WXS	Illumina GAIIx	Phase_I	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	6	1206	+		Myeloproliferative disorder(178;0.0341)	264			Nonhelical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.792G>T	CCDS6982.1																																																																																				0.612	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		36	155	1	0	1.06647e-15	1	1.20338e-15	36	155					T	137620521	G	T	137620521	2	4	30	1	0	0	0	0	0	0	0	1	3698	1103	39	5		5	COL5A1	9	137620521	Silent	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	13085040	137620521	3592910	67	2928										
ITIH5	80760	broad.mit.edu	37	chr10	7605313	7605313	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tggctgggccctgcagggtcTtctgtgagtctggcatcctg	15	11	3	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:7605313T>C	ENST00000256861.6	-	14	2640	c.2562A>G	c.(2560-2562)gaA>gaG	p.E854E	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Silent_p.E640E|ITIH5_ENST00000446830.2_Silent_p.E636E	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	854					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGCAGGGTCTTCTGTGAGTC	0.567																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(2560-2562)gaA>gaG		inter-alpha-trypsin inhibitor heavy chain family, member 5							57	55	56					10																	7605313		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7605313T>C			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2562A>G	10.37:g.7605313T>C			Somatic				ITIH5_ENST00000446830.2_Silent_p.E636E|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Silent_p.E640E	p.E854E	NM_030569.6	NP_085046.5	WXS	Illumina GAIIx	Phase_I	Q86UX2	ITIH5_HUMAN			14	2640	-			854					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.2562A>G																																																																																					0.567	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		5	45	0	0	0	1	0	5	45					C	7605313	T	C	7605313	2	2	30	1	0	0	0	0	0	0	0	1	7916	1606	56	4		4	ITIH5	10	7605313	Silent	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08		7605313	127929434	68	2929										
ITGB1	3688	broad.mit.edu	37	chr10	33200429	33200429	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	cacatctcacacgtttgcccTtgaaacttcggatctgtaca	6	13	2	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:33200429T>A	ENST00000396033.2	-	13	2013	c.1878A>T	c.(1876-1878)caA>caT	p.Q626H	ITGB1_ENST00000374956.4_Missense_Mutation_p.Q626H|ITGB1_ENST00000302278.3_Missense_Mutation_p.Q626H|ITGB1_ENST00000423113.1_Missense_Mutation_p.Q626H	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	626	Cysteine-rich tandem repeats.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	ACGTTTGCCCTTGAAACTTCG	0.468																																						ENST00000396033.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1876-1878)caA>caT		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)							116	107	110					10																	33200429		2203	4297	6500	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33200429T>A	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"CD molecules", "Integrins"	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1878A>T	10.37:g.33200429T>A	ENSP00000379350:p.Gln626His		Somatic				ITGB1_ENST00000374956.4_Missense_Mutation_p.Q626H|ITGB1_ENST00000423113.1_Missense_Mutation_p.Q626H|ITGB1_ENST00000302278.3_Missense_Mutation_p.Q626H	p.Q626H	NM_133376.2	NP_596867.1	WXS	Illumina GAIIx	Phase_I	P05556	ITB1_HUMAN			13	2013	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	626			Cysteine-rich tandem repeats.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.1878A>T	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.493091	0.64186	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.62	-2.96	0.05547	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	T	0.60932	0.2307	M	0.76433	2.335	0.54753	D	0.999983	D;D;D;D;D	0.69078	0.995;0.993;0.992;0.993;0.997	D;D;D;P;D	0.69307	0.963;0.963;0.953;0.816;0.954	T	0.61362	-0.7078	10	0.17832	T	0.49	.	8.9556	0.35816	0.1018:0.4549:0.0:0.4433	.	626;626;626;626;626	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	H	626	ENSP00000379350:Q626H;ENSP00000388694:Q626H;ENSP00000303351:Q626H;ENSP00000364094:Q626H	ENSP00000303351:Q626H	Q	-	3	2	ITGB1	33240435	0.870000	0.30015	0.802000	0.32245	0.662000	0.39071	-0.031000	0.12287	-0.715000	0.04968	0.533000	0.62120	CAA		0.468	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		28	144	0	0	0	1	0	28	144					A	33200429	T	A	33200429	3	1	30	1	0	0	0	0	1	0	0	0	7899	1606	56	4	772	4	ITGB1	10	33200429	Missense_Mutation	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08	25595116	33200429	102334318	69	2930										
ZNF37A	7587	broad.mit.edu	37	chr10	38406502	38406502	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tggcatcagaaaattaaaaaTtgggaacaatcttttgaata	7	4	2	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:38406502T>G	ENST00000361085.5	+	7	768	c.423T>G	c.(421-423)aaT>aaG	p.N141K	ZNF37A_ENST00000351773.3_Missense_Mutation_p.N141K	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AAATTAAAAATTGGGAACAAT	0.358																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(421-423)aaT>aaG		zinc finger protein 37A							54	60	58					10																	38406502		2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38406502T>G	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"Zinc fingers, C2H2-type", "-"	13102	protein-coding gene	gene with protein product			"zinc finger protein 37a (KOX 21)"			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.423T>G	10.37:g.38406502T>G	ENSP00000354377:p.Asn141Lys		Somatic				ZNF37A_ENST00000361085.4_Missense_Mutation_p.N141K	p.N141K	NM_001007094.2	NP_001007095.1	WXS	Illumina GAIIx	Phase_I	P17032	ZN37A_HUMAN			8	1253	+			141					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.423T>G	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	T	3.243	-0.154966	0.06544	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.14893	2.47;2.47	2.57	1.44	0.22558	.	.	.	.	.	T	0.12050	0.0293	L	0.37750	1.13	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.24261	-1.0165	9	0.54805	T	0.06	.	3.7788	0.08671	0.0:0.1857:0.0:0.8143	.	141	P17032	ZN37A_HUMAN	K	141	ENSP00000329141:N141K;ENSP00000354377:N141K	ENSP00000329141:N141K	N	+	3	2	ZNF37A	38446508	0.000000	0.05858	0.007000	0.13788	0.202000	0.24057	-3.093000	0.00608	1.178000	0.42870	0.482000	0.46254	AAT		0.358	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		23	87	0	0	0	1	0	23	87					G	38406502	T	G	38406502	3	3	30	1	0	0	0	0	1	0	0	0	17887	1490	52	4	437	4	ZNF37A	10	38406502	Missense_Mutation	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08	5206073	38406502	97128245	70	2931										
C10orf53	282966	broad.mit.edu	37	chr10	50901855	50901855	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	atggacatgaggtcatcctaGagaagatagaagactggaat	12	5	1	5			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:50901855G>T	ENST00000374111.3	+	2	145	c.133G>T	c.(133-135)Gag>Tag	p.E45*	C10orf53_ENST00000535836.1_Nonsense_Mutation_p.E45*|CHAT_ENST00000455728.2_3'UTR|C10orf53_ENST00000374112.3_Nonsense_Mutation_p.E45*|C10orf53_ENST00000374113.3_Nonsense_Mutation_p.E45*	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	45										endometrium(1)|lung(6)	7		all_neural(218;0.107)				GGTCATCCTAGAGAAGATAGA	0.473																																						ENST00000374113.3																			0				endometrium(1)|lung(6)	7						c.(133-135)Gag>Tag		chromosome 10 open reading frame 53							165	149	154					10																	50901855		2203	4300	6503	SO:0001587	stop_gained	282966							g.chr10:50901855G>T	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.133G>T	10.37:g.50901855G>T	ENSP00000363225:p.Glu45*		Somatic				C10orf53_ENST00000535836.1_Nonsense_Mutation_p.E45*|C10orf53_ENST00000374112.3_Nonsense_Mutation_p.E45*|C10orf53_ENST00000374111.3_Nonsense_Mutation_p.E45*|CHAT_ENST00000455728.2_3'UTR	p.E45*			WXS	Illumina GAIIx	Phase_I	Q8N6V4	CJ053_HUMAN			2	180	+		all_neural(218;0.107)	45					A6NI81|A6NLE0|B9ZVK6	Nonsense_Mutation	SNP	ENST00000374111.3	37	c.133G>T	CCDS41521.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001285	0.54254	.	.	ENSG00000178645	ENST00000374113;ENST00000374111;ENST00000374112;ENST00000535836	.	.	.	5.74	2.64	0.31445	.	0.220807	0.26272	U	0.025338	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-16.5486	12.2377	0.54524	0.0707:0.2396:0.6897:0.0	.	.	.	.	X	45	.	ENSP00000363225:E45X	E	+	1	0	C10orf53	50571861	1.000000	0.71417	0.841000	0.33234	0.780000	0.44128	2.839000	0.48207	0.760000	0.33108	0.655000	0.94253	GAG		0.473	C10orf53-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048005.1	NM_182554		7	66	1	0	2.0095e-06	1	2.15119e-06	7	66					T	50901855	G	T	50901855	4	4	30	1	0	0	0	0	0	1	0	0	1608	943	33	2	139	2	C10orf53	10	50901855	Nonsense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	12495353	50901855	84632892	71	2932										
CCDC6	8030	broad.mit.edu	37	chr10	61666143	61666143	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	cgagctgctgctgttgccccCcgccccgtccgtgtcgctct	11	19	1	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:61666143C>G	ENST00000263102.6	-	1	271	c.40G>C	c.(40-42)Ggg>Cgg	p.G14R		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	14						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CTGTTGCCCCCCGCCCCGTCC	0.776			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(40-42)Ggg>Cgg		coiled-coil domain containing 6							6	8	7					10																	61666143		1638	3484	5122	SO:0001583	missense	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61666143C>G	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"	601985	"DNA segment on chromosome 10 (unique) 170"	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.40G>C	10.37:g.61666143C>G	ENSP00000263102:p.Gly14Arg		Somatic					p.G14R	NM_005436.4	NP_005427.2	WXS	Illumina GAIIx	Phase_I	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	1	271	-			14					Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	c.40G>C	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048248	0.93740	.	.	ENSG00000108091	ENST00000263102	D	0.96365	-3.99	4.31	4.31	0.51392	.	0.283001	0.33419	N	0.004926	D	0.96741	0.8936	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97210	0.9870	10	0.87932	D	0	-17.2075	14.6998	0.69147	0.0:1.0:0.0:0.0	.	14	Q16204	CCDC6_HUMAN	R	14	ENSP00000263102:G14R	ENSP00000263102:G14R	G	-	1	0	CCDC6	61336149	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.656000	0.61483	2.397000	0.81536	0.655000	0.94253	GGG		0.776	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		7	27	0	0	0	1	0	7	27					G	61666143	C	G	61666143	3	3	30	1	0	0	0	0	1	0	0	0	2832	623	22	5	1420	5	CCDC6	10	61666143	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	10764288	61666143	73868604	72	2933										
PPRC1	23082	broad.mit.edu	37	chr10	103900434	103900434	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gacccaccaaagaccatcatCcctgaagtcaaagaggttgt	8	12	2	3			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:103900434C>A	ENST00000278070.2	+	5	2208	c.2169C>A	c.(2167-2169)atC>atA	p.I723I	PPRC1_ENST00000413464.2_Silent_p.I723I|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	723					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)		AGACCATCATCCCTGAAGTCA	0.537																																						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.(2167-2169)atC>atA		peroxisome proliferator-activated receptor gamma, coactivator-related 1							92	91	91					10																	103900434		2203	4300	6503	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103900434C>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2169C>A	10.37:g.103900434C>A			Somatic				PPRC1_ENST00000413464.2_Silent_p.I723I	p.I723I	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)	5	2208	+		Colorectal(252;0.122)	723					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.2169C>A	CCDS7529.1																																																																																				0.537	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		22	146	1	0	7.45023e-12	1	8.23965e-12	22	146					A	103900434	C	A	103900434	2	1	30	1	0	0	0	0	0	0	0	1	12422	845	30	2		2	PPRC1	10	103900434	Silent	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	42234291	103900434	31634313	73	2934										
SORCS1	114815	broad.mit.edu	37	chr10	108366950	108366950	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	caggtcatcagttgacctttTgttttctccagctggatcct	8	11	3	1	rs144896133		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:108366950T>A	ENST00000263054.6	-	23	3146	c.3139A>T	c.(3139-3141)Aaa>Taa	p.K1047*	SORCS1_ENST00000369698.1_Nonsense_Mutation_p.K582*|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Nonsense_Mutation_p.K1047*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1047					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)		GTTGACCTTTTGTTTTCTCCA	0.522																																						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.(3139-3141)Aaa>Taa		sortilin-related VPS10 domain containing receptor 1							100	96	97					10																	108366950		2203	4300	6503	SO:0001587	stop_gained	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108366950T>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3139A>T	10.37:g.108366950T>A	ENSP00000263054:p.Lys1047*		Somatic				SORCS1_ENST00000344440.6_Nonsense_Mutation_p.K1047*|SORCS1_ENST00000369698.1_Nonsense_Mutation_p.K582*|SORCS1_ENST00000478809.2_5'UTR	p.K1047*	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)	23	3146	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1047					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Nonsense_Mutation	SNP	ENST00000263054.6	37	c.3139A>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	T	42	9.435519	0.99171	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	.	.	.	5.81	5.81	0.92471	.	0.468602	0.24542	N	0.037638	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.5589	15.8133	0.78581	0.0:0.0:0.0:1.0	.	.	.	.	X	582;1047;1047	.	.	K	-	1	0	SORCS1	108356940	0.977000	0.34250	0.981000	0.43875	0.486000	0.33341	1.367000	0.34204	2.216000	0.71823	0.533000	0.62120	AAA		0.522	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		18	42	0	0	0	1	0	18	42					A	108366950	T	A	108366950	4	1	30	1	0	0	0	0	0	1	0	0	14945	1821	63	4	617	4	SORCS1	10	108366950	Nonsense_Mutation	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08	4466516	108366950	27167797	74	2935										
DUSP5	1847	broad.mit.edu	37	chr10	112266691	112266692	+	Splice_Site	INS	-	-	G													0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gtcctttgtccctgcatccaINSgggtggcccagttgaaatcc							TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:112266691_112266692insG	ENST00000369583.3	+	3	812		c.e3-1		DUSP5_ENST00000468749.1_Splice_Site	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5						endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	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)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CCCTGCATCCAGGGTGGCCCAG	0.48																																						ENST00000369583.3																			0				kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13						c.e3-1		dual specificity phosphatase 5																																				SO:0001630	splice_region_variant	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112266691_112266692insG	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.529-1->G	10.37:g.112266694_112266694dupG			Somatic				DUSP5_ENST00000468749.1_Splice_Site		NM_004419.3	NP_004410.3	WXS	Illumina GAIIx	Phase_I	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	3	812	+		Breast(234;0.0848)						Q12997|Q5T603	Splice_Site	INS	ENST00000369583.3	37		CCDS7566.1																																																																																				0.48	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419	Intron	8	302						8	302	---	---	---	---	G	112266692	-	G	112266691	8	5	30	1	0	1	1	0	0	0	1	0	4830	202	7	0	537	0	DUSP5	10	112266691	Splice_Site	INS	-	TCGA-N8-A4PP-01A-11D-A28R-08	3899741	112266691	23268056	75	2936										
PDCD4	27250	broad.mit.edu	37	chr10	112650324	112650324	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ttctctgtagagctgctctgGataaggctaccgtgcttctg	11	10	3	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:112650324G>T	ENST00000280154.7	+	8	1160	c.886G>T	c.(886-888)Gat>Tat	p.D296Y	PDCD4_ENST00000393104.2_Missense_Mutation_p.D285Y|PDCD4_ENST00000481353.1_3'UTR	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	296					apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AGCTGCTCTGGATAAGGCTAC	0.408																																					Ovarian(115;1498 1603 9363 40056 40885)	ENST00000393104.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13						c.(853-855)Gat>Tat		programmed cell death 4 (neoplastic transformation inhibitor)							141	143	143					10																	112650324		2203	4300	6503	SO:0001583	missense	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112650324G>T	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"nuclear antigen H731"	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.886G>T	10.37:g.112650324G>T	ENSP00000280154:p.Asp296Tyr		Somatic				PDCD4_ENST00000280154.7_Missense_Mutation_p.D296Y|PDCD4_ENST00000481353.1_3'UTR	p.D285Y	NM_145341.3	NP_663314.1	WXS	Illumina GAIIx	Phase_I	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	9	1213	+		Breast(234;0.0848)|Lung NSC(174;0.238)	296					B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	c.853G>T	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571577	0.65765	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.41400	1.0;1.0	5.34	4.43	0.53597	Armadillo-type fold (1);	0.044847	0.85682	D	0.000000	T	0.46328	0.1387	M	0.70595	2.14	0.80722	D	1	P;P;P	0.49783	0.781;0.781;0.928	B;B;B	0.44133	0.321;0.321;0.442	T	0.55386	-0.8149	10	0.72032	D	0.01	-9.8168	13.4182	0.60980	0.0758:0.0:0.9242:0.0	.	282;296;285	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	Y	296;285	ENSP00000280154:D296Y;ENSP00000376816:D285Y	ENSP00000280154:D296Y	D	+	1	0	PDCD4	112640314	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.356000	0.73046	2.496000	0.84212	0.650000	0.86243	GAT		0.408	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456		10	69	1	0	3.86212e-05	1	4.08211e-05	10	69					T	112650324	G	T	112650324	3	4	30	1	0	0	0	0	1	0	0	0	11630	1174	41	2	926	2	PDCD4	10	112650324	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	383633	112650324	22884423	76	2937										
TACC2	10579	broad.mit.edu	37	chr10	123844255	123844255	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	cacattggaaataaggaagaTgggcagctgtgatggggagg	17	4	0	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:123844255T>C	ENST00000369005.1	+	4	2580	c.2240T>C	c.(2239-2241)aTg>aCg	p.M747T	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.M747T|TACC2_ENST00000515603.1_Missense_Mutation_p.M747T|TACC2_ENST00000515273.1_Missense_Mutation_p.M747T|TACC2_ENST00000453444.2_Missense_Mutation_p.M747T|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	747					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)				ATAAGGAAGATGGGCAGCTGT	0.542																																						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.(2239-2241)aTg>aCg		transforming, acidic coiled-coil containing protein 2							68	79	76					10																	123844255		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844255T>C	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2240T>C	10.37:g.123844255T>C	ENSP00000358001:p.Met747Thr		Somatic				TACC2_ENST00000515603.1_Missense_Mutation_p.M747T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.M747T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.M747T|TACC2_ENST00000334433.3_Missense_Mutation_p.M747T	p.M747T	NM_206862.2	NP_996744.2	WXS	Illumina GAIIx	Phase_I	O95359	TACC2_HUMAN			4	2580	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	747					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.2240T>C	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.844237	0.00568	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.02863	4.14;4.13;4.13;4.14;4.13	4.41	0.0721	0.14385	.	2.793500	0.01583	N	0.021176	T	0.02267	0.0070	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.43310	-0.9399	10	0.32370	T	0.25	.	3.978	0.09483	0.0:0.3747:0.1833:0.442	.	747;747;747	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	T	747;747;747;747;747;737	ENSP00000358001:M747T;ENSP00000424467:M747T;ENSP00000427618:M747T;ENSP00000334280:M747T;ENSP00000395048:M747T	ENSP00000334280:M747T	M	+	2	0	TACC2	123834245	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	0.224000	0.17738	0.006000	0.14734	-0.366000	0.07423	ATG		0.542	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			25	156	0	0	0	1	0	25	156					C	123844255	T	C	123844255	3	2	30	1	0	0	0	0	1	0	0	0	15517	1464	51	4	2250	4	TACC2	10	123844255	Missense_Mutation	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08	11193931	123844255	11690492	77	2938										
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	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tcatggctccaaactcttctTgtcctgctgtatccaaaact	5	13	3	0	rs113954997		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:14316390T>A	ENST00000256196.4	-	3	528	c.215A>T	c.(214-216)cAa>cTa	p.Q72L	RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000545643.1_Missense_Mutation_p.Q78L|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000529237.1_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_ENST00000534746.1_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L	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		88	91	0	0	0	1	0	88	91					A	14316390	T	A	14316390	3	1	30	1	0	0	0	0	1	0	0	0	13692	1812	63	4	415	4	RRAS2	11	14316390	Missense_Mutation	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08		14316390	120690126	78	2939										
PAMR1	25891	broad.mit.edu	37	chr11	35454241	35454241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tgtcgttcttgaagccagggCtcctcacgtctgccaggaca	11	13	3	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:35454241C>T	ENST00000378880.2	-	11	2271	c.1826G>A	c.(1825-1827)aGc>aAc	p.S609N	PAMR1_ENST00000532848.1_Missense_Mutation_p.S569N|PAMR1_ENST00000378878.3_Missense_Mutation_p.S498N|PAMR1_ENST00000278360.3_Missense_Mutation_p.S626N	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	609	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						GAAGCCAGGGCTCCTCACGTC	0.607																																						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.(1825-1827)aGc>aAc		peptidase domain containing associated with muscle regeneration 1							83	67	73					11																	35454241		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35454241C>T		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1826G>A	11.37:g.35454241C>T	ENSP00000368158:p.Ser609Asn		Somatic				PAMR1_ENST00000532848.1_Missense_Mutation_p.S569N|PAMR1_ENST00000278360.3_Missense_Mutation_p.S626N|PAMR1_ENST00000378878.3_Missense_Mutation_p.S498N	p.S609N	NM_001001991.1	NP_001001991.1	WXS	Illumina GAIIx	Phase_I	Q6UXH9	PAMR1_HUMAN			11	2271	-			609			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.1826G>A	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	C	9.915	1.210590	0.22289	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11	5.47	1.23	0.21249	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.428825	0.27223	N	0.020350	T	0.81498	0.4835	N	0.25031	0.7	0.33677	D	0.611638	P;B;B	0.34462	0.454;0.042;0.0	B;B;B	0.24974	0.057;0.037;0.002	T	0.81245	-0.1020	10	0.87932	D	0	.	6.098	0.20031	0.0:0.24:0.5158:0.2442	.	498;609;626	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	N	626;609;498;569;586	ENSP00000278360:S626N;ENSP00000368158:S609N;ENSP00000368156:S498N;ENSP00000433868:S569N;ENSP00000432591:S586N	ENSP00000278360:S626N	S	-	2	0	PAMR1	35410817	1.000000	0.71417	0.997000	0.53966	0.800000	0.45204	1.000000	0.29770	0.681000	0.31386	0.561000	0.74099	AGC		0.607	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		11	43	0	0	0	1	0	11	43					T	35454241	C	T	35454241	3	4	30	1	0	0	0	0	1	0	0	0	11422	797	28	3	340	3	PAMR1	11	35454241	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	21137851	35454241	99552275	79	2940										
OR9G4	283189	broad.mit.edu	37	chr11	56510657	56510657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	cacaccaagcaggactttttCgtagaccctggtgtttgtac	9	11	0	1	rs147669235		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:56510657C>T	ENST00000302957.3	-	1	630	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E211K(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						AGGACTTTTTCGTAGACCCTG	0.438													C|||	1	0.000199681	8e-04	0	5008	,	,		22670	0		0	False		,,,				2504	0					ENST00000302957.3																			1	Substitution - Missense(1)	p.E211K(1)	large_intestine(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.(631-633)Gaa>Aaa		olfactory receptor, family 9, subfamily G, member 4		C	LYS/GLU	0,4402		0,0,2201	79	73	75		631	4.8	0.4	11	dbSNP_134	75	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR9G4	NM_001005284.1	56	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	211/328	56510657	1,12993	2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510657C>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.631G>A	11.37:g.56510657C>T	ENSP00000307515:p.Glu211Lys		Somatic					p.E211K	NM_001005284.1	NP_001005284.1	WXS	Illumina GAIIx	Phase_I	Q8NGQ1	OR9G4_HUMAN			1	630	-			211					Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.631G>A	CCDS31537.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.11	2.138289	0.37728	0.0	1.16E-4	ENSG00000172457	ENST00000302957	T	0.00207	8.55	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.186375	0.25717	N	0.028767	T	0.00356	0.0011	M	0.73372	2.23	0.09310	N	0.999998	D	0.61697	0.99	P	0.48952	0.596	T	0.60271	-0.7296	10	0.56958	D	0.05	-12.4199	16.8673	0.86033	0.0:1.0:0.0:0.0	.	211	Q8NGQ1	OR9G4_HUMAN	K	211	ENSP00000307515:E211K	ENSP00000307515:E211K	E	-	1	0	OR9G4	56267233	0.000000	0.05858	0.378000	0.26068	0.062000	0.15995	0.360000	0.20250	2.636000	0.89361	0.643000	0.83706	GAA		0.438	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		14	58	0	0	0	1	0	14	58					T	56510657	C	T	56510657	3	4	30	1	0	0	0	0	1	0	0	0	11260	893	31	1	355	1	OR9G4	11	56510657	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	21056416	56510657	78495859	80	2941										
DAGLA	747	broad.mit.edu	37	chr11	61511823	61511823	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tccttcccgctcagctcctcGggtgagctcatggacctgac	10	16	2	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:61511823G>C	ENST00000257215.5	+	20	3107	c.2991G>C	c.(2989-2991)tcG>tcC	p.S997S	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	997					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)		TCAGCTCCTCGGGTGAGCTCA	0.677																																						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.(2989-2991)tcG>tcC		diacylglycerol lipase, alpha							51	56	54					11																	61511823		2202	4299	6501	SO:0001819	synonymous_variant	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511823G>C	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.2991G>C	11.37:g.61511823G>C			Somatic					p.S997S	NM_006133.2	NP_006124.1	WXS	Illumina GAIIx	Phase_I	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	3107	+			997					A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	c.2991G>C	CCDS31578.1																																																																																				0.677	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		23	90	0	0	0	1	0	23	90					C	61511823	G	C	61511823	2	2	30	1	0	0	0	0	0	0	0	1	4228	1103	39	5		5	DAGLA	11	61511823	Silent	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	5001166	61511823	73494693	81	2942										
CWF19L2	143884	broad.mit.edu	37	chr11	107205621	107205621	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	acttacagactttctgatatCttttgaagagagatctatca	6	7	4	5			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:107205621C>A	ENST00000282251.5	-	16	2452	c.2425G>T	c.(2425-2427)Gat>Tat	p.D809Y		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	809							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTTCTGATATCTTTTGAAGAG	0.333																																						ENST00000282251.5																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(2425-2427)Gat>Tat		CWF19-like 2, cell cycle control (S. pombe)							100	109	106					11																	107205621		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107205621C>A	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2425G>T	11.37:g.107205621C>A	ENSP00000282251:p.Asp809Tyr		Somatic					p.D809Y	NM_152434.2	NP_689647.2	WXS	Illumina GAIIx	Phase_I	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	16	2452	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	809					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.2425G>T	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867543	0.72065	.	.	ENSG00000152404	ENST00000282251;ENST00000409771	T	0.29142	1.58	5.24	5.24	0.73138	Cwf19-like protein, C-terminal domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.64997	-0.6275	10	0.56958	D	0.05	-22.1509	17.8169	0.88637	0.0:1.0:0.0:0.0	.	809	Q2TBE0	C19L2_HUMAN	Y	809;67	ENSP00000282251:D809Y	ENSP00000282251:D809Y	D	-	1	0	CWF19L2	106710831	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	4.923000	0.63412	2.438000	0.82558	0.655000	0.94253	GAT		0.333	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		31	43	1	0	8.88839e-20	1	1.01669e-19	31	43					A	107205621	C	A	107205621	3	1	30	1	0	0	0	0	1	0	0	0	4074	913	32	2	271	2	CWF19L2	11	107205621	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	45693798	107205621	27800895	82	2943										
TMPRSS5	80975	broad.mit.edu	37	chr11	113567582	113567582	+	Frame_Shift_Del	DEL	G	G	-													0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	cagcctcagtagtcctacctGggctgccacgcctcctccag							TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:113567582delG	ENST00000299882.5	-	6	724	c.576delC	c.(574-576)cccfs	p.P192fs	TMPRSS5_ENST00000544634.1_Frame_Shift_Del_p.P192fs|TMPRSS5_ENST00000544476.1_Frame_Shift_Del_p.P148fs|TMPRSS5_ENST00000536856.1_5'UTR|TMPRSS5_ENST00000545579.1_Frame_Shift_Del_p.P183fs|TMPRSS5_ENST00000540540.1_5'UTR|TMPRSS5_ENST00000538955.1_Frame_Shift_Del_p.P148fs	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	192	SRCR.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		AGTCCTACCTGGGCTGCCACG	0.547																																						ENST00000299882.5																			0				endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						c.(574-576)ccfs		transmembrane protease, serine 5							51	55	54					11																	113567582		1984	4157	6141	SO:0001589	frameshift_variant	80975				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:113567582delG	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"Serine peptidases / Transmembrane"	14908	protein-coding gene	gene with protein product	"spinesin"	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.576delC	11.37:g.113567582delG	ENSP00000299882:p.Pro192fs		Somatic				TMPRSS5_ENST00000545579.1_Frame_Shift_Del_p.P183fs|TMPRSS5_ENST00000536856.1_5'UTR|TMPRSS5_ENST00000544634.1_Frame_Shift_Del_p.P192fs|TMPRSS5_ENST00000540540.1_5'UTR|TMPRSS5_ENST00000538955.1_Frame_Shift_Del_p.P148fs|TMPRSS5_ENST00000544476.1_Frame_Shift_Del_p.P148fs	p.P192fs	NM_030770.2	NP_110397.2	WXS	Illumina GAIIx	Phase_I	Q9H3S3	TMPS5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)	6	724	-		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	192			SRCR.			Frame_Shift_Del	DEL	ENST00000299882.5	37	c.576delC	CCDS44735.1																																																																																				0.547	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	NM_030770		2	4						2	4	---	---	---	---	-	113567582	G	-	113567582	7	5	30	1	0	1	0	1	0	0	0	0	16265	1335	47	0	829	0	TMPRSS5	11	113567582	Frame_Shift_Del	DEL	G	TCGA-N8-A4PP-01A-11D-A28R-08	6361961	113567582	21438934	83	2944										
TBCEL	219899	broad.mit.edu	37	chr11	120925929	120925929	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ctggataccctcgtcctggcCaacaatcatttgaatgctat	7	12	1	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:120925929C>A	ENST00000529397.1	+	5	724	c.624C>A	c.(622-624)gcC>gcA	p.A208A	TBCEL_ENST00000422003.2_Silent_p.A208A	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	208						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TCGTCCTGGCCAACAATCATT	0.438																																						ENST00000422003.2																		TECTA/TBCEL(2)	0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(622-624)gcC>gcA		tubulin folding cofactor E-like							102	90	94					11																	120925929		2203	4299	6502	SO:0001819	synonymous_variant	219899					cytoplasm|cytoskeleton		g.chr11:120925929C>A	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"leucine rich repeat containing 35", "tubulin-specific chaperone e-like"	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.624C>A	11.37:g.120925929C>A			Somatic				TBCEL_ENST00000529397.1_Silent_p.A208A	p.A208A	NM_152715.3	NP_689928.3	WXS	Illumina GAIIx	Phase_I	Q5QJ74	TBCEL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)	5	812	+		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	208					Q0VAN6	Silent	SNP	ENST00000529397.1	37	c.624C>A	CCDS31692.1																																																																																				0.438	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715		9	43	1	0	0.000274275	1	0.000286275	9	43					A	120925929	C	A	120925929	2	1	30	1	0	0	0	0	0	0	0	1	15650	581	21	5		5	TBCEL	11	120925929	Silent	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	7358347	120925929	14080587	84	2945										
OR8D1	283159	broad.mit.edu	37	chr11	124180410	124180410	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tgtattcttctttcctaggaAgttcaccagcattttgggag	9	8	3	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:124180410A>C	ENST00000357821.2	-	1	323	c.253T>G	c.(253-255)Ttc>Gtc	p.F85V		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TTTCCTAGGAAGTTCACCAGC	0.468																																						ENST00000357821.2																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(253-255)Ttc>Gtc		olfactory receptor, family 8, subfamily D, member 1							68	65	66					11																	124180410		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180410A>C	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.253T>G	11.37:g.124180410A>C	ENSP00000350474:p.Phe85Val		Somatic					p.F85V	NM_001002917.1	NP_001002917.1	WXS	Illumina GAIIx	Phase_I	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	323	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	85					B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.253T>G	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	a	11.96	1.795604	0.31777	.	.	ENSG00000196341	ENST00000357821	T	0.00940	5.52	4.29	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38837	U	0.001551	T	0.04634	0.0126	M	0.89030	3	0.09310	N	1	D	0.69078	0.997	D	0.63488	0.915	T	0.07328	-1.0778	10	0.87932	D	0	.	6.7823	0.23652	0.7623:0.1514:0.0863:0.0	.	85	Q8WZ84	OR8D1_HUMAN	V	85	ENSP00000350474:F85V	ENSP00000350474:F85V	F	-	1	0	OR8D1	123685620	0.042000	0.20092	0.967000	0.41034	0.630000	0.37929	0.975000	0.29449	1.813000	0.52934	0.416000	0.27883	TTC		0.468	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		16	44	0	0	0	1	0	16	44					C	124180410	A	C	124180410	3	2	30	1	0	0	0	0	1	0	0	0	11240	72	3	4	676	4	OR8D1	11	124180410	Missense_Mutation	SNP	A	TCGA-N8-A4PP-01A-11D-A28R-08	3254481	124180410	10826106	85	2946										
IRAK4	51135	broad.mit.edu	37	chr12	44165125	44165125	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ggtgatcttgtggatcttttGatccaaaatgaattttttgc	9	5	2	3			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:44165125G>C	ENST00000448290.2	+	3	335	c.264G>C	c.(262-264)ttG>ttC	p.L88F	IRAK4_ENST00000431837.1_Intron|IRAK4_ENST00000551736.1_Missense_Mutation_p.L88F|IRAK4_ENST00000440781.2_Intron	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	88	Death.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TGGATCTTTTGATCCAAAATG	0.418																																						ENST00000448290.2																			0											c.(262-264)ttG>ttC		interleukin-1 receptor-associated kinase 4							95	91	92					12																	44165125		2203	4300	6503	SO:0001583	missense	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44165125G>C	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.264G>C	12.37:g.44165125G>C	ENSP00000390651:p.Leu88Phe		Somatic				IRAK4_ENST00000551736.1_Missense_Mutation_p.L88F|IRAK4_ENST00000440781.2_Intron|IRAK4_ENST00000431837.1_Intron	p.L88F	NM_016123.3	NP_057207.2	WXS	Illumina GAIIx	Phase_I	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	3	335	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	88			Death.		Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	c.264G>C	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780764	0.90195	.	.	ENSG00000198001	ENST00000550616;ENST00000448290;ENST00000551736;ENST00000356669	T;T;T	0.76709	-1.04;-1.04;-1.04	6.16	5.27	0.74061	DEATH-like (2);	0.000000	0.85682	D	0.000000	D	0.88533	0.6462	M	0.86651	2.83	0.80722	D	1	D	0.71674	0.998	D	0.64877	0.93	D	0.89196	0.3554	10	0.56958	D	0.05	-12.0328	15.9802	0.80102	0.0651:0.0:0.9349:0.0	.	88	Q9NWZ3	IRAK4_HUMAN	F	88	ENSP00000446571:L88F;ENSP00000390651:L88F;ENSP00000446490:L88F	ENSP00000349096:L88F	L	+	3	2	IRAK4	42451392	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	3.085000	0.50151	2.937000	0.99478	0.650000	0.86243	TTG		0.418	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			11	51	0	0	0	1	0	11	51					C	44165125	G	C	44165125	3	2	30	1	0	0	0	0	1	0	0	0	7834	1281	45	2	270	2	IRAK4	12	44165125	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08		44165125	89686770	86	2947										
SENP1	29843	broad.mit.edu	37	chr12	48468234	48468234	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tctggggtataagaagatagGgaatatacactgtgggacag	14	4	1	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:48468234G>T	ENST00000004980.5	-	8	1291	c.813C>A	c.(811-813)tcC>tcA	p.S271S	SENP1_ENST00000549518.1_Silent_p.S271S|SENP1_ENST00000549595.1_Silent_p.S271S|SENP1_ENST00000551330.1_Silent_p.S271S|SENP1_ENST00000448372.1_Silent_p.S271S|SENP1_ENST00000339976.6_3'UTR			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	271					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AAGAAGATAGGGAATATACAC	0.433																																						ENST00000004980.5																			0				large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7						c.(811-813)tcC>tcA		SUMO1/sentrin specific peptidase 1							141	133	136					12																	48468234		1919	4137	6056	SO:0001819	synonymous_variant	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48468234G>T	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"SUMO1/sentrin specific protease 1"			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.813C>A	12.37:g.48468234G>T			Somatic				SENP1_ENST00000549595.1_Silent_p.S271S|SENP1_ENST00000551330.1_Silent_p.S271S|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Silent_p.S271S|SENP1_ENST00000549518.1_Silent_p.S271S	p.S271S			WXS	Illumina GAIIx	Phase_I	Q9P0U3	SENP1_HUMAN			8	1291	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	271					A8K7P5|Q86XC8	Silent	SNP	ENST00000004980.5	37	c.813C>A	CCDS44868.2																																																																																				0.433	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		21	125	1	0	3.51602e-12	1	3.9145e-12	21	125					T	48468234	G	T	48468234	2	4	30	1	0	0	0	0	0	0	0	1	14061	1219	43	5		5	SENP1	12	48468234	Silent	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	4303109	48468234	85383661	87	2948										
KRT18	3875	broad.mit.edu	37	chr12	53343316	53343316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ggagcacttggagaagaaggGaccccaggtcagagactgga	16	8	1	3			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:53343316G>A	ENST00000388835.3	+	1	569	c.359G>A	c.(358-360)gGa>gAa	p.G120E	KRT18_ENST00000388837.2_Missense_Mutation_p.G120E|KRT18_ENST00000550600.1_Missense_Mutation_p.G120E|KRT8_ENST00000552551.1_5'UTR|KRT8_ENST00000549198.1_5'UTR|KRT8_ENST00000546897.1_Intron|AC107016.2_ENST00000581256.1_RNA	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	120	Interaction with TRADD.|Linker 1.|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						GAGAAGAAGGGACCCCAGGTC	0.587																																						ENST00000550600.1																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						c.(358-360)gGa>gAa		keratin 18							31	37	35					12																	53343316		2185	4290	6475	SO:0001583	missense	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.chr12:53343316G>A		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.359G>A	12.37:g.53343316G>A	ENSP00000373487:p.Gly120Glu		Somatic				KRT8_ENST00000546897.1_Intron|KRT18_ENST00000388835.3_Missense_Mutation_p.G120E|KRT8_ENST00000552551.1_5'UTR|KRT8_ENST00000549198.1_5'UTR|KRT18_ENST00000388837.2_Missense_Mutation_p.G120E	p.G120E			WXS	Illumina GAIIx	Phase_I	P05783	K1C18_HUMAN			2	413	+			120			Interaction with TRADD.|Linker 1.|Necessary for interaction with PNN.|Rod.		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	ENST00000388835.3	37	c.359G>A	CCDS31809.1	.	.	.	.	.	.	.	.	.	.	g	25.3	4.621968	0.87460	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.88201	-2.35;-2.35;-2.35	3.63	3.63	0.41609	Filament (1);	0.000000	0.52532	D	0.000076	D	0.90103	0.6908	M	0.66378	2.025	0.80722	D	1	P;P	0.45212	0.853;0.595	P;P	0.53549	0.527;0.729	D	0.86737	0.1952	10	0.11182	T	0.66	.	13.5664	0.61822	0.0:0.0:1.0:0.0	.	120;120	F8VZY9;P05783	.;K1C18_HUMAN	E	120	ENSP00000373489:G120E;ENSP00000447278:G120E;ENSP00000373487:G120E	ENSP00000373487:G120E	G	+	2	0	KRT18	51629583	1.000000	0.71417	0.971000	0.41717	0.992000	0.81027	3.953000	0.56699	2.329000	0.79093	0.561000	0.74099	GGA		0.587	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		21	84	0	0	0	1	0	21	84					A	53343316	G	A	53343316	3	1	30	1	0	0	0	0	1	0	0	0	8464	1174	41	3	361	3	KRT18	12	53343316	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	4875082	53343316	80508579	88	2949										
SMARCC2	6601	broad.mit.edu	37	chr12	56568509	56568509	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	agatactcttgggggttcagTcggtaagtgtcaatcataaa	11	6	4	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:56568509T>G	ENST00000267064.4	-	16	1508	c.1422A>C	c.(1420-1422)cgA>cgC	p.R474R	SMARCC2_ENST00000550164.1_Silent_p.R474R|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Silent_p.R474R|SMARCC2_ENST00000394023.3_Silent_p.R474R	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	474	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				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)			GGGGGTTCAGTCGGTAAGTGT	0.468																																						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.(1420-1422)cgA>cgC		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							124	125	125					12																	56568509		2203	4300	6503	SO:0001819	synonymous_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56568509T>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.1422A>C	12.37:g.56568509T>G			Somatic				RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Silent_p.R474R|SMARCC2_ENST00000550164.1_Silent_p.R474R|SMARCC2_ENST00000267064.4_Silent_p.R474R	p.R474R	NM_001130420.1	NP_001123892.1	WXS	Illumina GAIIx	Phase_I	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		16	1527	-			474			SWIRM.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	ENST00000267064.4	37	c.1422A>C	CCDS8907.1																																																																																				0.468	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			14	147	0	0	0	1	0	14	147					G	56568509	T	G	56568509	2	3	30	1	0	0	0	0	0	0	0	1	14791	1654	58	4		4	SMARCC2	12	56568509	Silent	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08	3225193	56568509	77283386	89	2950										
GEFT	115557	broad.mit.edu	37	chr12	58010124	58010124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ccagaccaacagcctggggcGgccaagagggcctggagtgg	17	12	0	2	rs116051216		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:58010124G>A	ENST00000286494.4	+	14	1938	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q	AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.R532Q|AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	493	Sufficient to bind activated GNAQ.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R493Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						AGCCTGGGGCGGCCAAGAGGG	0.592													G|||	1	0.000199681	8e-04	0	5008	,	,		17880	0		0	False		,,,				2504	0					ENST00000286494.4																			1	Substitution - Missense(1)	p.R493Q(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1477-1479)cGg>cAg		Rho guanine nucleotide exchange factor (GEF) 25		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	62	66	65		1595,1478	4.8	1	12	dbSNP_132	65	0,8600		0,0,4300	no	missense,missense	ARHGEF25	NM_001111270.1,NM_182947.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	532/620,493/581	58010124	1,13005	2203	4300	6503	SO:0001583	missense	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58010124G>A		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"Rho guanine nucleotide exchange factors"	30275	protein-coding gene	gene with protein product	"RAC/CDC42 exchange factor"	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1478G>A	12.37:g.58010124G>A	ENSP00000286494:p.Arg493Gln		Somatic				AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.R532Q	p.R493Q	NM_182947.3	NP_891992.2	WXS	Illumina GAIIx	Phase_I	Q86VW2	ARHGP_HUMAN			14	1938	+			493			Sufficient to bind activated GNAQ.		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	c.1478G>A	CCDS8947.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	20.3	3.974957	0.74360	2.27E-4	0.0	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.21734	1.99;1.99	4.77	4.77	0.60923	Pleckstrin homology-type (1);	0.000000	0.34067	N	0.004298	T	0.39200	0.1069	L	0.50333	1.59	0.47183	D	0.999344	D;D	0.76494	0.999;0.994	D;D	0.77557	0.99;0.921	T	0.05801	-1.0863	10	0.54805	T	0.06	.	13.5047	0.61477	0.0:0.0:1.0:0.0	.	532;493	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	Q	532;493	ENSP00000335560:R532Q;ENSP00000286494:R493Q	ENSP00000286494:R493Q	R	+	2	0	ARHGEF25	56296391	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	4.786000	0.62425	2.655000	0.90218	0.650000	0.86243	CGG		0.592	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		47	66	0	0	0	1	0	47	66					A	58010124	G	A	58010124	3	1	30	1	0	0	0	0	1	0	0	0	6336	1116	39	1	1754	1	GEFT	12	58010124	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	1441615	58010124	75841771	90	2951										
AVIL	10677	broad.mit.edu	37	chr12	58197161	58197161	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	acgagactggacatctaggaTttcctgctgaagtctgcaat	10	9	2	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:58197161T>C	ENST00000257861.3	-	15	2261	c.1831A>G	c.(1831-1833)Atc>Gtc	p.I611V	RNU6-1083P_ENST00000384022.1_RNA|RP11-571M6.17_ENST00000602802.1_lincRNA|AVIL_ENST00000550083.1_5'UTR|AVIL_ENST00000537081.1_Missense_Mutation_p.I604V|TSFM_ENST00000548851.1_Intron	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	611	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					ACATCTAGGATTTCCTGCTGA	0.433											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(1810-1812)Atc>Gtc		advillin							172	157	162					12																	58197161		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58197161T>C	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1831A>G	12.37:g.58197161T>C	ENSP00000257861:p.Ile611Val		Somatic	OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1029	AVIL_ENST00000550083.1_5'UTR|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.I611V	p.I604V			WXS	Illumina GAIIx	Phase_I	O75366	AVIL_HUMAN			15	1809	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		611			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.1810A>G	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.665049	0.00107	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.41065	1.01;1.01	5.13	1.31	0.21738	.	1.014360	0.07872	N	0.968100	T	0.15262	0.0368	N	0.01228	-0.945	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25467	-1.0131	10	0.10902	T	0.67	-2.4849	8.7132	0.34395	0.0:0.4638:0.0:0.5362	.	604;611	O75366-2;O75366	.;AVIL_HUMAN	V	604;611	ENSP00000443207:I604V;ENSP00000257861:I611V	ENSP00000257861:I611V	I	-	1	0	AVIL	56483428	0.001000	0.12720	0.131000	0.22000	0.007000	0.05969	0.548000	0.23314	0.263000	0.21812	0.459000	0.35465	ATC		0.433	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		20	155	0	0	0	1	0	20	155					C	58197161	T	C	58197161	3	2	30	1	0	0	0	0	1	0	0	0	1227	1493	52	4	648	4	AVIL	12	58197161	Missense_Mutation	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08	187037	58197161	75654734	91	2952										
MYF6	4618	broad.mit.edu	37	chr12	81101831	81101831	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	aggctaaagaaaatcaacgaGgccttcgaggcactgaagcg	12	9	1	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:81101831G>C	ENST00000228641.3	+	1	555	c.333G>C	c.(331-333)gaG>gaC	p.E111D		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	111	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AAATCAACGAGGCCTTCGAGG	0.587																																						ENST00000228641.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						c.(331-333)gaG>gaC		myogenic factor 6 (herculin)							51	56	54					12																	81101831		2203	4300	6503	SO:0001583	missense	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101831G>C		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.333G>C	12.37:g.81101831G>C	ENSP00000228641:p.Glu111Asp		Somatic					p.E111D	NM_002469.2	NP_002460.1	WXS	Illumina GAIIx	Phase_I	P23409	MYF6_HUMAN			1	555	+			111			Helix-loop-helix motif.		B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	c.333G>C	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467463	0.63625	.	.	ENSG00000111046	ENST00000228641	D	0.97688	-4.49	5.62	3.75	0.43078	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.96396	0.8824	N	0.16567	0.415	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95287	0.8391	10	0.48119	T	0.1	-12.0805	8.79	0.34845	0.3109:0.0:0.6891:0.0	.	111	P23409	MYF6_HUMAN	D	111	ENSP00000228641:E111D	ENSP00000228641:E111D	E	+	3	2	MYF6	79625962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.946000	0.29069	1.360000	0.45960	0.655000	0.94253	GAG		0.587	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		6	73	0	0	0	1	0	6	73					C	81101831	G	C	81101831	3	2	30	1	0	0	0	0	1	0	0	0	10037	991	35	5	335	5	MYF6	12	81101831	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	22904670	81101831	52750064	92	2953										
ASCL1	429	broad.mit.edu	37	chr12	103352601	103352601	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ggcgtcctgtcgcccaccatCtcccccaactactccaacga	6	20	1	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:103352601C>A	ENST00000266744.3	+	1	1138	c.579C>A	c.(577-579)atC>atA	p.I193I		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	193					adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						CGCCCACCATCTCCCCCAACT	0.672																																						ENST00000266744.3																			0				NS(3)|large_intestine(1)|lung(1)	5						c.(577-579)atC>atA		achaete-scute family bHLH transcription factor 1							36	39	38					12																	103352601		2203	4299	6502	SO:0001819	synonymous_variant	429				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr12:103352601C>A	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"Basic helix-loop-helix proteins"	738	protein-coding gene	gene with protein product		100790	"achaete-scute complex (Drosophila) homolog-like 1", "achaete-scute complex-like 1 (Drosophila)", "achaete-scute complex homolog 1 (Drosophila)"			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.579C>A	12.37:g.103352601C>A			Somatic					p.I193I	NM_004316.3	NP_004307.2	WXS	Illumina GAIIx	Phase_I	P50553	ASCL1_HUMAN			1	1138	+			193					A8K3C4|Q9BQ30	Silent	SNP	ENST00000266744.3	37	c.579C>A	CCDS31886.1																																																																																				0.672	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406707.1			17	52	1	0	1.99824e-07	1	2.15294e-07	17	52					A	103352601	C	A	103352601	2	1	30	1	0	0	0	0	0	0	0	1	1034	903	32	2		2	ASCL1	12	103352601	Silent	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	22250770	103352601	30499294	93	2954										
KIAA1033	23325	broad.mit.edu	37	chr12	105558018	105558018	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gcaacagaatgtacagtcagCcagtcaagatgaaaaactct	8	9	3	3			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:105558018C>G	ENST00000332180.5	+	31	3374	c.3287C>G	c.(3286-3288)gCc>gGc	p.A1096G	KIAA1033_ENST00000547171.1_3'UTR	NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GTACAGTCAGCCAGTCAAGAT	0.433																																						ENST00000332180.5																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3286-3288)gCc>gGc		KIAA1033							105	100	102					12																	105558018		1875	4113	5988	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105558018C>G	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.3287C>G	12.37:g.105558018C>G	ENSP00000328062:p.Ala1096Gly		Somatic				KIAA1033_ENST00000547171.1_3'UTR	p.A1096G	NM_015275.1	NP_056090.1	WXS	Illumina GAIIx	Phase_I	Q2M389	WAHS7_HUMAN			31	3374	+			1096						Missense_Mutation	SNP	ENST00000332180.5	37	c.3287C>G	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	C	6.375	0.437211	0.12104	.	.	ENSG00000136051	ENST00000332180	T	0.77358	-1.09	5.93	5.93	0.95920	.	0.555000	0.21166	N	0.079065	T	0.46502	0.1396	N	0.01109	-1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31475	-0.9942	10	0.09843	T	0.71	.	10.2863	0.43568	0.1349:0.7962:0.0:0.0689	.	1097;1096	B7ZKT9;Q2M389	.;WASH7_HUMAN	G	1096	ENSP00000328062:A1096G	ENSP00000328062:A1096G	A	+	2	0	KIAA1033	104082148	0.004000	0.15560	0.019000	0.16419	0.547000	0.35210	2.064000	0.41432	2.826000	0.97356	0.655000	0.94253	GCC		0.433	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		7	32	0	0	0	1	0	7	32					G	105558018	C	G	105558018	3	3	30	1	0	0	0	0	1	0	0	0	8215	739	26	5	3409	5	KIAA1033	12	105558018	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	2205417	105558018	28293877	94	2955										
RPL21	6144	broad.mit.edu	37	chr13	27827919	27827919	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	cagtaattcgccaaaatgacGaacacaaagggaaagaggag	11	7	0	2	rs112351536	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:27827919G>A	ENST00000311549.6	+	2	295	c.6G>A	c.(4-6)acG>acA	p.T2T	RPL21_ENST00000326092.4_Silent_p.T2T|RPL21_ENST00000272274.4_Silent_p.T2T|SNORD102_ENST00000384769.1_RNA|RPL21_ENST00000319826.4_Silent_p.T2T|SNORA27_ENST00000384323.1_RNA	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	ribosomal protein L21	2					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		CCAAAATGACGAACACAAAGG	0.418																																						ENST00000311549.6																			0				large_intestine(1)|lung(1)	2						c.(4-6)acG>acA		ribosomal protein L21		G		1,4405	2.1+/-5.4	0,1,2202	63	60	61		6	1.5	1	13	dbSNP_132	61	0,8600		0,0,4300	no	coding-synonymous	RPL21	NM_000982.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2/161	27827919	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6144				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr13:27827919G>A	AB007176	CCDS9320.1	13q12.2	2008-07-18			ENSG00000122026	ENSG00000122026		"L ribosomal proteins"	10313	protein-coding gene	gene with protein product	"60S ribosomal protein L21"	603636				3459254, 7772601	Standard	NM_000982		Approved	L21, FLJ27458, MGC71252, MGC104274, MGC104275, DKFZp686C06101	uc001ura.3	P46778	OTTHUMG00000016630	ENST00000311549.6:c.6G>A	13.37:g.27827919G>A			Somatic				RPL21_ENST00000319826.4_Silent_p.T2T|RPL21_ENST00000326092.4_Silent_p.T2T|RPL21_ENST00000272274.4_Silent_p.T2T	p.T2T	NM_000982.3	NP_000973.2	WXS	Illumina GAIIx	Phase_I	P46778	RL21_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)	2	295	+		Lung SC(185;0.0156)	2					Q16699	Silent	SNP	ENST00000311549.6	37	c.6G>A	CCDS9320.1																																																																																				0.418	RPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044270.1	NM_000982		8	39	0	0	0	1	0	8	39					A	27827919	G	A	27827919	2	1	30	1	0	0	0	0	0	0	0	1	13582	1045	37	1		1	RPL21	13	27827919	Silent	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08		27827919	87341959	95	2956										
FLT1	2321	broad.mit.edu	37	chr13	28931761	28931761	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gctttgcagtgatagacaccTtcatcctcttctgtgactct	7	12	4	3			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:28931761T>C	ENST00000282397.4	-	15	2429	c.2178A>G	c.(2176-2178)gaA>gaG	p.E726E		NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	726	Ig-like C2-type 7.				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)	GATAGACACCTTCATCCTCTT	0.453																																						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.(2176-2178)gaA>gaG		fms-related tyrosine kinase 1	Sunitinib(DB01268)						211	194	200					13																	28931761		2203	4300	6503	SO:0001819	synonymous_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28931761T>C	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.2178A>G	13.37:g.28931761T>C			Somatic					p.E726E	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)	15	2429	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	726			Ig-like C2-type 7.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.2178A>G	CCDS9330.1																																																																																				0.453	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			20	71	0	0	0	1	0	20	71					C	28931761	T	C	28931761	2	2	30	1	0	0	0	0	0	0	0	1	5949	1606	56	4		4	FLT1	13	28931761	Silent	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08	1103842	28931761	86238117	96	2957										
C13orf36	400120	broad.mit.edu	37	chr13	37269482	37269482	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gctggaagttctttcaccaaTttggaagtctgcagcatttc	9	9	3	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:37269482T>C	ENST00000315190.3	+	2	713	c.267T>C	c.(265-267)aaT>aaC	p.N89N		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	89						integral component of membrane (GO:0016021)											CTTTCACCAATTTGGAAGTCT	0.453																																						ENST00000315190.3																			0											c.(265-267)aaT>aaC		serine-rich and transmembrane domain containing 1							92	94	93					13																	37269482		2203	4300	6503	SO:0001819	synonymous_variant	400120					integral to membrane		g.chr13:37269482T>C		CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 36"	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.267T>C	13.37:g.37269482T>C			Somatic					p.N89N	NM_203451.2	NP_982276.2	WXS	Illumina GAIIx	Phase_I	A2A2V5	CM036_HUMAN			2	713	+			89					Q8N469	Silent	SNP	ENST00000315190.3	37	c.267T>C	CCDS9358.1																																																																																				0.453	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2	NM_203451		23	66	0	0	0	1	0	23	66					C	37269482	T	C	37269482	2	2	30	1	0	0	0	0	0	0	0	1	1732	1490	52	4		4	C13orf36	13	37269482	Silent	SNP	T	TCGA-N8-A4PP-01A-11D-A28R-08	8337721	37269482	77900396	97	2958										
KIAA0564	23078	broad.mit.edu	37	chr13	42293839	42293839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gtaggaatcaaagtcaaacaCatttcgaactacactggaga	8	8	2	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:42293839C>T	ENST00000379310.3	-	26	3072	c.3004G>A	c.(3004-3006)Gtg>Atg	p.V1002M	VWA8_ENST00000281496.6_Missense_Mutation_p.V1002M	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1002						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										AAGTCAAACACATTTCGAACT	0.343																																						ENST00000379310.3																			0											c.(3004-3006)Gtg>Atg		von Willebrand factor A domain containing 8							147	128	135					13																	42293839		2203	4300	6503	SO:0001583	missense	23078							g.chr13:42293839C>T	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3004G>A	13.37:g.42293839C>T	ENSP00000368612:p.Val1002Met		Somatic				VWA8_ENST00000281496.6_Missense_Mutation_p.V1002M	p.V1002M	NM_015058.1	NP_055873.1	WXS	Illumina GAIIx	Phase_I					26	3072	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.3004G>A	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926164	0.92319	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.26223	1.75;1.92	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67681	-0.5608	10	0.87932	D	0	.	19.5547	0.95338	0.0:1.0:0.0:0.0	.	1002	A3KMH1	K0564_HUMAN	M	906;1002;1002	ENSP00000368612:V1002M;ENSP00000281496:V1002M	ENSP00000251030:V906M	V	-	1	0	KIAA0564	41191839	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.744000	0.85034	2.694000	0.91930	0.585000	0.79938	GTG		0.343	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		5	21	0	0	0	1	0	5	21					T	42293839	C	T	42293839	3	4	30	1	0	0	0	0	1	0	0	0	8194	478	17	3	2797	3	KIAA0564	13	42293839	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	5024357	42293839	72876039	98	2959										
EDNRB	1910	broad.mit.edu	37	chr13	78475270	78475270	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	acaggtcattagtgtataaaAaaatgcagtgatggccaatg	10	5	1	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:78475270A>C	ENST00000334286.5	-	4	1110	c.874T>G	c.(874-876)Ttt>Gtt	p.F292V	EDNRB_ENST00000377211.4_Missense_Mutation_p.F382V|EDNRB_ENST00000446573.1_Missense_Mutation_p.F292V	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	292			F -> L (in WS4A). {ECO:0000269|PubMed:12189494}.		aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	AGTGTATAAAAAAATGCAGTG	0.338																																						ENST00000377211.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42	GRCh37	CM021581	EDNRB	M		c.(1144-1146)Ttt>Gtt		endothelin receptor type B	Bosentan(DB00559)						81	85	84					13																	78475270		2203	4300	6503	SO:0001583	missense	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78475270A>C	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"GPCR / Class A : Endothelin receptors"	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.874T>G	13.37:g.78475270A>C	ENSP00000335311:p.Phe292Val		Somatic				EDNRB_ENST00000446573.1_Missense_Mutation_p.F292V|EDNRB_ENST00000334286.5_Missense_Mutation_p.F292V	p.F382V	NM_001201397.1	NP_001188326.1	WXS	Illumina GAIIx	Phase_I	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	5	1296	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	292					A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	c.1144T>G	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336916	0.60963	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.37411	1.2;1.2;1.2	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	M	0.67397	2.05	0.80722	D	1	D;B;D	0.71674	0.998;0.198;0.997	D;B;D	0.77557	0.99;0.171;0.989	T	0.62959	-0.6743	10	0.87932	D	0	-7.5758	15.7059	0.77580	1.0:0.0:0.0:0.0	.	292;382;292	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	V	382;292;292	ENSP00000366416:F382V;ENSP00000403401:F292V;ENSP00000335311:F292V	ENSP00000335311:F292V	F	-	1	0	EDNRB	77373271	1.000000	0.71417	0.911000	0.35937	0.121000	0.20230	8.927000	0.92846	2.126000	0.65437	0.459000	0.35465	TTT		0.338	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			4	34	0	0	0	1	0	4	34					C	78475270	A	C	78475270	3	2	30	1	0	0	0	0	1	0	0	0	4922	14	1	4	591	4	EDNRB	13	78475270	Missense_Mutation	SNP	A	TCGA-N8-A4PP-01A-11D-A28R-08	36181431	78475270	36694608	99	2960										
APEX1	328	broad.mit.edu	37	chr14	20925652	20925652	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gatcactgtcctatcaccctAtacctagcactgtgacacca	5	15	2	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr14:20925652A>T	ENST00000216714.3	+	5	1210	c.942A>T	c.(940-942)ctA>ctT	p.L314L	APEX1_ENST00000557054.1_3'UTR|OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000398030.4_Silent_p.L314L|APEX1_ENST00000555414.1_Silent_p.L314L|OSGEP_ENST00000556252.1_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	314	Mitochondrial targeting sequence (MTS).				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)	CTATCACCCTATACCTAGCAC	0.473								Other BER factors																														ENST00000216714.3																			0				breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9						c.(940-942)ctA>ctT	Other BER factors	APEX nuclease (multifunctional DNA repair enzyme) 1	Lucanthone(DB04967)						142	129	134					14																	20925652		2203	4300	6503	SO:0001819	synonymous_variant	328				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity	g.chr14:20925652A>T	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	ENST00000216714.3:c.942A>T	14.37:g.20925652A>T			Somatic				APEX1_ENST00000555414.1_Silent_p.L314L|APEX1_ENST00000398030.4_Silent_p.L314L|APEX1_ENST00000557054.1_3'UTR	p.L314L	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	WXS	Illumina GAIIx	Phase_I	P27695	APEX1_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	5	1210	+	all_cancers(95;0.00123)	all_lung(585;0.235)	314			Mitochondrial targeting sequence (MTS).		Q969L5|Q99775	Silent	SNP	ENST00000216714.3	37	c.942A>T	CCDS9550.1																																																																																				0.473	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		12	154	0	0	0	1	0	12	154					T	20925652	A	T	20925652	2	4	30	1	0	0	0	0	0	0	0	1	769	436	16	4		4	APEX1	14	20925652	Silent	SNP	A	TCGA-N8-A4PP-01A-11D-A28R-08		20925652	86423888	100	2961										
OTUD7A	161725	broad.mit.edu	37	chr15	31776314	31776314	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gcgcgctcgtcaggtagtagCcgatcatctcctcgtggaac	12	13	3	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr15:31776314C>A	ENST00000307050.4	-	11	2056	c.1964G>T	c.(1963-1965)gGc>gTc	p.G655V	OTUD7A_ENST00000382902.1_Missense_Mutation_p.G662V	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	655					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)		CAGGTAGTAGCCGATCATCTC	0.721																																						ENST00000382902.1																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1984-1986)gGc>gTc		OTU domain containing 7A							14	14	14					15																	31776314		2159	4230	6389	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31776314C>A	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.1964G>T	15.37:g.31776314C>A	ENSP00000305926:p.Gly655Val		Somatic				OTUD7A_ENST00000307050.4_Missense_Mutation_p.G655V	p.G662V			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	2077	-		all_lung(180;1.6e-09)	655					Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1985G>T	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953846	0.53293	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.30182	1.54;1.54	4.19	3.24	0.37175	.	0.359775	0.35096	N	0.003443	T	0.23330	0.0564	L	0.29908	0.895	0.58432	D	0.999996	P;B	0.36535	0.557;0.421	B;B	0.36766	0.232;0.116	T	0.02705	-1.1121	10	0.38643	T	0.18	-9.3957	13.04	0.58893	0.1626:0.8374:0.0:0.0	.	662;655	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	V	655;662	ENSP00000305926:G655V;ENSP00000372358:G662V	ENSP00000305926:G655V	G	-	2	0	OTUD7A	29563606	1.000000	0.71417	0.863000	0.33907	0.976000	0.68499	5.275000	0.65575	0.699000	0.31761	0.401000	0.26515	GGC		0.721	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		4	15	1	0	0.00116845	1	0.00120451	4	15					A	31776314	C	A	31776314	3	1	30	1	0	0	0	0	1	0	0	0	11327	739	26	5	820	5	OTUD7A	15	31776314	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08		31776314	70755078	101	2962										
MMP25	64386	broad.mit.edu	37	chr16	3107137	3107137	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tccattatgaggcccttctaCcagggtccggtgggcgaccc	12	14	1	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:3107137C>A	ENST00000336577.4	+	5	1002	c.765C>A	c.(763-765)taC>taA	p.Y255*	RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000597579.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	262					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)	GGCCCTTCTACCAGGGTCCGG	0.642																																					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.(763-765)taC>taA		matrix metallopeptidase 25							111	115	114					16																	3107137		2197	4300	6497	SO:0001587	stop_gained	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3107137C>A	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.765C>A	16.37:g.3107137C>A	ENSP00000337816:p.Tyr255*		Somatic				RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA	p.Y255*	NM_022468.4	NP_071913.1	WXS	Illumina GAIIx	Phase_I	Q9NPA2	MMP25_HUMAN			5	1002	+			255					Q96F04|Q96TE2	Nonsense_Mutation	SNP	ENST00000336577.4	37	c.765C>A	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	c	24.1	4.488610	0.84854	.	.	ENSG00000008516	ENST00000336577	.	.	.	4.48	3.53	0.40419	.	0.159728	0.29501	N	0.011969	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9076	0.24317	0.0:0.7887:0.0:0.2113	.	.	.	.	X	255	.	ENSP00000337816:Y255X	Y	+	3	2	MMP25	3047138	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	2.614000	0.46359	0.882000	0.36016	0.306000	0.20318	TAC		0.642	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		66	164	1	0	3.57465e-26	1	4.17459e-26	66	164					A	3107137	C	A	3107137	4	1	30	1	0	0	0	0	0	1	0	0	9671	518	18	5	783	5	MMP25	16	3107137	Nonsense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08		3107137	87247616	102	2963										
CREBBP	1387	broad.mit.edu	37	chr16	3820578	3820578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	cagagaggcttaccggtgtgCcaggaggctgggcgtgcaca	17	10	0	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:3820578C>T	ENST00000262367.5	-	14	3682	c.2873G>A	c.(2872-2874)gGc>gAc	p.G958D	CREBBP_ENST00000382070.3_Missense_Mutation_p.G920D	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	958					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)		TACCGGTGTGCCAGGAGGCTG	0.577			"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.(2872-2874)gGc>gAc		CREB binding protein							135	164	154					16																	3820578		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.chr16:3820578C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2873G>A	16.37:g.3820578C>T	ENSP00000262367:p.Gly958Asp		Somatic				CREBBP_ENST00000382070.3_Missense_Mutation_p.G920D	p.G958D	NM_004380.2	NP_004371.2	WXS	Illumina GAIIx	Phase_I	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	14	3682	-		Ovarian(90;0.0266)	958					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.2873G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814066	0.50527	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83163	-1.69;-1.6	5.87	5.87	0.94306	.	0.069282	0.64402	D	0.000012	T	0.79381	0.4436	L	0.48642	1.525	0.58432	D	0.999998	B;B	0.24483	0.104;0.104	B;B	0.30029	0.11;0.06	T	0.72050	-0.4407	10	0.14656	T	0.56	-15.7121	16.7906	0.85589	0.0:0.8715:0.1285:0.0	.	988;958	Q4LE28;Q92793	.;CBP_HUMAN	D	958;988;920	ENSP00000262367:G958D;ENSP00000371502:G920D	ENSP00000262367:G958D	G	-	2	0	CREBBP	3760579	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.125000	0.57931	2.941000	0.99782	0.655000	0.94253	GGC		0.577	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		5	297	0	0	0	1	0	5	297					T	3820578	C	T	3820578	3	4	30	1	0	0	0	0	1	0	0	0	3863	739	26	3	4527	3	CREBBP	16	3820578	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	713441	3820578	86534175	103	2964										
RBBP6	5930	broad.mit.edu	37	chr16	24581363	24581363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	agaaggactattccaaagatGtcaaatcagaaaagctaaca	7	7	2	3			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:24581363G>A	ENST00000319715.4	+	17	3784	c.3352G>A	c.(3352-3354)Gtc>Atc	p.V1118I	RBBP6_ENST00000348022.2_Missense_Mutation_p.V1084I|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1118	Interaction with RB1. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTCCAAAGATGTCAAATCAGA	0.363																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(3352-3354)Gtc>Atc		retinoblastoma binding protein 6							37	38	37					16																	24581363		2197	4299	6496	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24581363G>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3352G>A	16.37:g.24581363G>A	ENSP00000317872:p.Val1118Ile		Somatic				RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.V1084I	p.V1118I	NM_006910.4	NP_008841.2	WXS	Illumina GAIIx	Phase_I	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	3784	+			1118			Interaction with RB1 (By similarity).		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.3352G>A	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	9.798	1.179805	0.21787	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.15017	2.47;2.46	5.66	-1.29	0.09288	.	0.915776	0.09281	N	0.823695	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.36407	-0.9749	10	0.35671	T	0.21	0.0407	4.3053	0.10944	0.352:0.0:0.4249:0.223	.	1084;1118	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	I	1118;1084	ENSP00000317872:V1118I;ENSP00000316291:V1084I	ENSP00000317872:V1118I	V	+	1	0	RBBP6	24488864	0.079000	0.21365	0.783000	0.31826	0.997000	0.91878	-0.184000	0.09698	-0.143000	0.11334	0.655000	0.94253	GTC		0.363	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		5	19	0	0	0	1	0	5	19					A	24581363	G	A	24581363	3	1	30	1	0	0	0	0	1	0	0	0	13118	1377	48	3	3472	3	RBBP6	16	24581363	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	20760785	24581363	65773390	104	2965										
SIAH1	6477	broad.mit.edu	37	chr16	48395562	48395562	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	aagctgtgcaatgctggtgtCaaagactagacagtcgctat	11	8	1	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:48395562C>G	ENST00000380006.2	-	1	2231	c.778G>C	c.(778-780)Gac>Cac	p.D260H	SIAH1_ENST00000394725.2_Missense_Mutation_p.D260H|LONP2_ENST00000564259.1_3'UTR|SIAH1_ENST00000356721.3_Missense_Mutation_p.D291H			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	260	SBD.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				ATGCTGGTGTCAAAGACTAGA	0.418																																						ENST00000380006.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7						c.(778-780)Gac>Cac		siah E3 ubiquitin protein ligase 1							65	58	61					16																	48395562		2200	4300	6500	SO:0001583	missense	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48395562C>G	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"seven in absentia homolog 1 (Drosophila)"			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.778G>C	16.37:g.48395562C>G	ENSP00000369343:p.Asp260His		Somatic				SIAH1_ENST00000394725.2_Missense_Mutation_p.D260H|SIAH1_ENST00000356721.3_Missense_Mutation_p.D291H|LONP2_ENST00000564259.1_3'UTR	p.D260H			WXS	Illumina GAIIx	Phase_I	Q8IUQ4	SIAH1_HUMAN			1	2231	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	260			SBD.		A0FKF3|O43269|Q49A58|Q92880	Missense_Mutation	SNP	ENST00000380006.2	37	c.778G>C	CCDS10735.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954957	0.73902	.	.	ENSG00000196470	ENST00000356721;ENST00000394725;ENST00000380006	T;T	0.26957	1.7;1.7	5.85	5.85	0.93711	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	U	0.000000	T	0.56834	0.2012	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56226	-0.8014	10	0.52906	T	0.07	-20.2348	20.1634	0.98142	0.0:1.0:0.0:0.0	.	260;291	Q8IUQ4;Q8IUQ4-2	SIAH1_HUMAN;.	H	291;260;276	ENSP00000349156:D291H;ENSP00000378214:D260H	ENSP00000349156:D291H	D	-	1	0	SIAH1	46953063	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.818000	0.86416	2.773000	0.95371	0.655000	0.94253	GAC		0.418	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			11	30	0	0	0	1	0	11	30					G	48395562	C	G	48395562	3	3	30	1	0	0	0	0	1	0	0	0	14314	826	29	2	74	2	SIAH1	16	48395562	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	23814199	48395562	41959191	105	2966										
SLC12A3	6559	broad.mit.edu	37	chr16	56918049	56918049	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	atcatgttcctcctcacctgGtgggcggccctcatcgccat	9	16	3	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:56918049G>C	ENST00000563236.1	+	14	1783	c.1758G>C	c.(1756-1758)tgG>tgC	p.W586C	SLC12A3_ENST00000438926.2_Missense_Mutation_p.W586C|SLC12A3_ENST00000566786.1_Missense_Mutation_p.W585C|SLC12A3_ENST00000262502.5_Missense_Mutation_p.W585C			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	586					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCTCACCTGGTGGGCGGCCC	0.602																																						ENST00000438926.2																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1756-1758)tgG>tgC		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						173	141	152					16																	56918049		2198	4300	6498	SO:0001583	missense	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56918049G>C		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1758G>C	16.37:g.56918049G>C	ENSP00000456149:p.Trp586Cys		Somatic				SLC12A3_ENST00000566786.1_Missense_Mutation_p.W585C|SLC12A3_ENST00000262502.5_Missense_Mutation_p.W585C|SLC12A3_ENST00000563236.1_Missense_Mutation_p.W586C	p.W586C	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	WXS	Illumina GAIIx	Phase_I	P55017	S12A3_HUMAN			14	1787	+			586					A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.1758G>C	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215128	0.79352	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	D	0.98792	-5.14	5.04	5.04	0.67666	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	H	0.96048	3.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.976;0.997;0.994	D	0.98268	1.0502	10	0.87932	D	0	.	18.381	0.90451	0.0:0.0:1.0:0.0	.	585;586;586	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	C	585;586	ENSP00000262502:W586C	ENSP00000262502:W586C	W	+	3	0	SLC12A3	55475550	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.686000	0.98664	2.335000	0.79485	0.462000	0.41574	TGG		0.602	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			10	63	0	0	0	1	0	10	63					C	56918049	G	C	56918049	3	2	30	1	0	0	0	0	1	0	0	0	14399	1270	44	5	1812	5	SLC12A3	16	56918049	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	8522487	56918049	33436704	106	2967										
GPR97	222487	broad.mit.edu	37	chr16	57717867	57717867	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ttcccgggagaggttcaagtCagaagatgccccaaagatcc	11	11	2	4			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:57717867C>G	ENST00000333493.4	+	9	1066	c.905C>G	c.(904-906)tCa>tGa	p.S302*	GPR97_ENST00000450388.3_Nonsense_Mutation_p.S182*|GPR97_ENST00000327655.6_Nonsense_Mutation_p.S92*|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	302					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						AGGTTCAAGTCAGAAGATGCC	0.597																																						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.(904-906)tCa>tGa		G protein-coupled receptor 97							66	68	67					16																	57717867		2198	4300	6498	SO:0001587	stop_gained	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57717867C>G	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.905C>G	16.37:g.57717867C>G	ENSP00000332900:p.Ser302*		Somatic				GPR97_ENST00000327655.6_Nonsense_Mutation_p.S92*|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Nonsense_Mutation_p.S182*	p.S302*	NM_170776.4	NP_740746.4	WXS	Illumina GAIIx	Phase_I	Q86Y34	GPR97_HUMAN			9	1066	+			302					Q6ZMF4|Q86SL9|Q8IZF1	Nonsense_Mutation	SNP	ENST00000333493.4	37	c.905C>G	CCDS10786.1	.	.	.	.	.	.	.	.	.	.	C	38	6.819974	0.97861	.	.	ENSG00000182885	ENST00000333493;ENST00000327655;ENST00000450388	.	.	.	4.99	3.97	0.46021	.	0.287902	0.24985	N	0.034030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.8883	0.24214	0.2927:0.6222:0.0:0.0851	.	.	.	.	X	302;92;182	.	ENSP00000331199:S92X	S	+	2	0	GPR97	56275368	0.997000	0.39634	0.999000	0.59377	0.991000	0.79684	3.623000	0.54224	2.307000	0.77673	0.591000	0.81541	TCA		0.597	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		13	49	0	0	0	1	0	13	49					G	57717867	C	G	57717867	4	3	30	1	0	0	0	0	0	1	0	0	6729	838	29	2	939	2	GPR97	16	57717867	Nonsense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	799818	57717867	32636886	107	2968										
ZFP90	146198	broad.mit.edu	37	chr16	68597927	68597927	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gcccatccctttataaacatAtgaggattcataagagaggc	8	9	1	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:68597927A>G	ENST00000570495.1	+	5	1529	c.1237A>G	c.(1237-1239)Atg>Gtg	p.M413V	ZFP90_ENST00000398253.2_Missense_Mutation_p.M413V|ZFP90_ENST00000563169.2_Missense_Mutation_p.M413V			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	413					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	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(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TTATAAACATATGAGGATTCA	0.428																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1237-1239)Atg>Gtg		ZFP90 zinc finger protein							59	59	59					16																	68597927		1997	4179	6176	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68597927A>G	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"Zinc fingers, C2H2-type", "-"	23329	protein-coding gene	gene with protein product		609451	"zinc finger protein 90 homolog (mouse)"			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1237A>G	16.37:g.68597927A>G	ENSP00000460547:p.Met413Val		Somatic				ZFP90_ENST00000563169.2_Missense_Mutation_p.M413V|ZFP90_ENST00000398253.2_Missense_Mutation_p.M413V|RP11-615I2.7_ENST00000571720.1_RNA	p.M413V			WXS	Illumina GAIIx	Phase_I	Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	1529	+		Ovarian(137;0.192)	413					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.1237A>G	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.725302	0.30593	.	.	ENSG00000184939	ENST00000398253	T	0.08984	3.03	5.85	2.19	0.27852	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06690	0.0171	L	0.39245	1.2	0.24101	N	0.99587	B	0.27229	0.172	B	0.22386	0.039	T	0.33574	-0.9863	9	0.72032	D	0.01	-9.4439	3.2104	0.06680	0.6361:0.1453:0.0788:0.1398	.	413	Q8TF47	ZFP90_HUMAN	V	413	ENSP00000381304:M413V	ENSP00000381304:M413V	M	+	1	0	ZFP90	67155428	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	1.815000	0.38981	1.111000	0.41721	0.533000	0.62120	ATG		0.428	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		13	67	0	0	0	1	0	13	67					G	68597927	A	G	68597927	3	3	30	1	0	0	0	0	1	0	0	0	17669	449	16	4	1251	4	ZFP90	16	68597927	Missense_Mutation	SNP	A	TCGA-N8-A4PP-01A-11D-A28R-08	10880060	68597927	21756826	108	2969										
PDPR	55066	broad.mit.edu	37	chr16	70187451	70187451	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	cacgcccctggaatgtggacGagagtctcgggtgaaattag	14	9	1	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:70187451G>T	ENST00000288050.4	+	18	3167	c.2210G>T	c.(2209-2211)cGa>cTa	p.R737L	RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000567046.1_Missense_Mutation_p.R95L|PDPR_ENST00000542659.1_Missense_Mutation_p.R82L|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000568530.1_Missense_Mutation_p.R737L|PDPR_ENST00000398122.3_Missense_Mutation_p.R637L	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	737					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)		GAATGTGGACGAGAGTCTCGG	0.473																																						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.(2209-2211)cGa>cTa		pyruvate dehydrogenase phosphatase regulatory subunit							64	67	66					16																	70187451		1916	4139	6055	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.chr16:70187451G>T		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.2210G>T	16.37:g.70187451G>T	ENSP00000288050:p.Arg737Leu		Somatic				PDPR_ENST00000542659.1_Missense_Mutation_p.R82L|PDPR_ENST00000568530.1_Missense_Mutation_p.R737L|PDPR_ENST00000567046.1_Missense_Mutation_p.R95L|PDPR_ENST00000398122.3_Missense_Mutation_p.R637L|PDPR_ENST00000562100.1_Intron	p.R737L	NM_017990.3	NP_060460.4	WXS	Illumina GAIIx	Phase_I	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	18	3167	+			737					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.2210G>T	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893381	0.72524	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000542659	T;T;T	0.78364	-1.17;-1.17;-1.17	6.04	6.04	0.98038	.	0.125624	0.56097	D	0.000031	T	0.63698	0.2533	N	0.17082	0.46	0.80722	D	1	B	0.11235	0.004	B	0.17722	0.019	T	0.60326	-0.7285	10	0.02654	T	1	.	19.5674	0.95401	0.0:0.0:1.0:0.0	.	737	Q8NCN5	PDPR_HUMAN	L	737;637;82	ENSP00000288050:R737L;ENSP00000381190:R637L;ENSP00000441690:R82L	ENSP00000288050:R737L	R	+	2	0	PDPR	68744952	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.793000	0.99091	2.873000	0.98535	0.561000	0.74099	CGA		0.473	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		3	23	1	0	0.00909568	1	0.00920593	3	23					T	70187451	G	T	70187451	3	4	30	1	0	0	0	0	1	0	0	0	11698	1058	37	2	2272	2	PDPR	16	70187451	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	1589524	70187451	20167302	109	2970										
SLC16A11	162515	broad.mit.edu	37	chr17	6946803	6946803	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	accacccagccccagcccccAtccgggggtccggcgggctg	13	20	0	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:6946803A>G	ENST00000308009.1	-	1	439	c.102T>C	c.(100-102)gaT>gaC	p.D34D	SLC16A11_ENST00000447225.1_Silent_p.D10D	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	34					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						CCCAGCCCCCATCCGGGGGTC	0.706																																						ENST00000308009.1																			0				endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						c.(100-102)gaT>gaC		solute carrier family 16, member 11							7	10	9					17																	6946803		2089	4109	6198	SO:0001819	synonymous_variant	162515					integral to membrane|plasma membrane	symporter activity	g.chr17:6946803A>G	AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"Solute carriers"	23093	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 11"	615765	"solute carrier family 16 (monocarboxylic acid transporters), member 11"				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.102T>C	17.37:g.6946803A>G			Somatic				SLC16A11_ENST00000447225.1_Silent_p.D10D	p.D34D	NM_153357.1	NP_699188.1	WXS	Illumina GAIIx	Phase_I	Q8NCK7	MOT11_HUMAN			1	439	-			34						Silent	SNP	ENST00000308009.1	37	c.102T>C	CCDS11086.1																																																																																				0.706	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	NM_153357		6	26	0	0	0	1	0	6	26					G	6946803	A	G	6946803	2	3	30	1	0	0	0	0	0	0	0	1	14419	214	8	4		4	SLC16A11	17	6946803	Silent	SNP	A	TCGA-N8-A4PP-01A-11D-A28R-08		6946803	74248407	110	2971										
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	16	11	1	1	rs397516437|rs121912651		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(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	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151	112	125					17																	7577539		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.chr17:7577539G>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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	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.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	p.R248W	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	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.92507	3.315	0.58432	A	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;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		35	33	0	0	0	1	0	35	33					A	7577539	G	A	7577539	3	1	30	1	0	0	0	0	1	0	0	0	16396	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	630736	7577539	73617671	111	2972										
C17orf59	54785	broad.mit.edu	37	chr17	8092945	8092945	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gccaccgcacgcctcgctcaGcccgtccaggctgcggctgt	12	19	1	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:8092945G>A	ENST00000389017.4	-	1	619	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	MIR3676_ENST00000579470.1_RNA	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	172										large_intestine(2)|lung(3)|urinary_tract(1)	6						GCCTCGCTCAGCCCGTCCAGG	0.736																																						ENST00000389017.4																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.(514-516)Ctg>Ttg		chromosome 17 open reading frame 59							10	12	11					17																	8092945		2168	4230	6398	SO:0001819	synonymous_variant	54785							g.chr17:8092945G>A	BC018880	CCDS11133.2	17p13.1	2005-12-16			ENSG00000196544	ENSG00000196544			25939	protein-coding gene	gene with protein product						12477932	Standard	NM_017622		Approved	FLJ20014	uc010vut.2	Q96GS4	OTTHUMG00000153930	ENST00000389017.4:c.514C>T	17.37:g.8092945G>A			Somatic					p.L172L	NM_017622.2	NP_060092.2	WXS	Illumina GAIIx	Phase_I	Q96GS4	CQ059_HUMAN			1	619	-			172					Q53HS4|Q9NXW8	Silent	SNP	ENST00000389017.4	37	c.514C>T	CCDS11133.2																																																																																				0.736	C17orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333072.1	NM_017622		12	28	0	0	0	1	0	12	28					A	8092945	G	A	8092945	2	1	30	1	0	0	0	0	0	0	0	1	1869	962	34	3		3	C17orf59	17	8092945	Silent	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	515406	8092945	73102265	112	2973										
CCL13	6357	broad.mit.edu	37	chr17	32685137	32685137	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	cctgggccggaaagctcacaCcctgaagacttgaactctgc	10	14	2	3			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:32685137C>G	ENST00000225844.2	+	3	359	c.284C>G	c.(283-285)aCc>aGc	p.T95S		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	95				AHTLKT -> LTP (in Ref. 12; CAB01111). {ECO:0000305}.	cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				AAAGCTCACACCCTGAAGACT	0.483																																						ENST00000225844.2																			0				large_intestine(1)|prostate(1)	2						c.(283-285)aCc>aGc		chemokine (C-C motif) ligand 13							65	62	63					17																	32685137		2203	4300	6503	SO:0001583	missense	6357				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity	g.chr17:32685137C>G	AJ001634	CCDS11281.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000181374	ENSG00000181374		"Chemokine ligands", "Endogenous ligands"	10611	protein-coding gene	gene with protein product		601391	"small inducible cytokine subfamily A (Cys-Cys), member 13"	SCYA13		8661057	Standard	NM_005408		Approved	MCP-4, NCC-1, SCYL1, CKb10, MGC17134	uc002hic.3	Q99616	OTTHUMG00000132890	ENST00000225844.2:c.284C>G	17.37:g.32685137C>G	ENSP00000225844:p.Thr95Ser		Somatic					p.T95S	NM_005408.2	NP_005399.1	WXS	Illumina GAIIx	Phase_I	Q99616	CCL13_HUMAN			3	359	+		Ovarian(249;0.0443)|Breast(31;0.151)	95	AHTLKT -> LTP (in Ref. 12; CAB01111).				O95689|Q6ICQ6	Missense_Mutation	SNP	ENST00000225844.2	37	c.284C>G	CCDS11281.1	.	.	.	.	.	.	.	.	.	.	C	7.526	0.657604	0.14645	.	.	ENSG00000181374	ENST00000225844	T	0.03920	3.76	4.37	3.38	0.38709	Chemokine interleukin-8-like domain (1);	.	.	.	.	T	0.04679	0.0127	.	.	.	0.09310	N	1	B	0.26744	0.158	B	0.28553	0.091	T	0.32481	-0.9905	8	0.44086	T	0.13	.	8.7013	0.34327	0.0:0.8876:0.0:0.1124	.	95	Q99616	CCL13_HUMAN	S	95	ENSP00000225844:T95S	ENSP00000225844:T95S	T	+	2	0	CCL13	29709250	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.464000	0.00996	1.972000	0.57404	0.561000	0.74099	ACC		0.483	CCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256389.1	NM_005408		11	51	0	0	0	1	0	11	51					G	32685137	C	G	32685137	3	3	30	1	0	0	0	0	1	0	0	0	2886	507	18	5	294	5	CCL13	17	32685137	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	24592192	32685137	48510073	113	2974										
KRT37	8688	broad.mit.edu	37	chr17	39580586	39580586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gggcagacagaggctggggcGgcccaggggagtcgacccca	19	12	0	2	rs539645480		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:39580586G>A	ENST00000225550.3	-	1	189	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	64	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				AGGCTGGGGCGGCCCAGGGGA	0.642																																						ENST00000225550.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(190-192)Cgc>Tgc		keratin 37							40	40	40					17																	39580586		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39580586G>A	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"-", "Intermediate filaments type I, keratins (acidic)"	6455	protein-coding gene	gene with protein product		604541	"keratin, hair, acidic, 7"	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.190C>T	17.37:g.39580586G>A	ENSP00000225550:p.Arg64Cys		Somatic				AC003958.2_ENST00000432258.1_RNA	p.R64C	NM_003770.4	NP_003761.3	WXS	Illumina GAIIx	Phase_I	O76014	KRT37_HUMAN			1	189	-		Breast(137;0.000496)	64			Head.			Missense_Mutation	SNP	ENST00000225550.3	37	c.190C>T	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	15.90	2.970335	0.53614	.	.	ENSG00000108417	ENST00000225550	D	0.82893	-1.66	4.31	-1.92	0.07618	.	0.343196	0.20920	N	0.083299	T	0.80639	0.4661	M	0.69358	2.11	0.20821	N	0.999847	D	0.76494	0.999	P	0.53689	0.732	T	0.71567	-0.4554	10	0.87932	D	0	.	0.4151	0.00447	0.2425:0.1393:0.2611:0.3571	.	64	O76014	KRT37_HUMAN	C	64	ENSP00000225550:R64C	ENSP00000225550:R64C	R	-	1	0	KRT37	36834112	0.000000	0.05858	0.159000	0.22649	0.899000	0.52679	-2.685000	0.00834	-0.578000	0.05959	0.655000	0.94253	CGC		0.642	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		4	97	0	0	0	1	0	4	97					A	39580586	G	A	39580586	3	1	30	1	0	0	0	0	1	0	0	0	8483	1116	39	1	1187	1	KRT37	17	39580586	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	6895449	39580586	41614624	114	2975										
CYTH1	9267	broad.mit.edu	37	chr17	76694918	76694918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ttacccggaggagctcctccGgcaggtctcccccatcattg	10	16	2	0	rs375897965		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:76694918G>A	ENST00000446868.3	-	8	753	c.683C>T	c.(682-684)cCg>cTg	p.P228L	CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000591455.1_Missense_Mutation_p.P228L|CYTH1_ENST00000585509.1_Missense_Mutation_p.P169L|CYTH1_ENST00000361101.4_Missense_Mutation_p.P228L|CYTH1_ENST00000589297.1_Missense_Mutation_p.P169L|RNU6-638P_ENST00000516582.1_RNA			Q15438	CYH1_HUMAN	cytohesin 1	228					establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						GAGCTCCTCCGGCAGGTCTCC	0.483																																						ENST00000589297.1																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						c.(505-507)cCg>cTg		cytohesin 1		G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	162	165	164		683,683	5.3	1	17		164	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CYTH1	NM_004762.2,NM_017456.2	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	228/399,228/398	76694918	1,13005	2203	4300	6503	SO:0001583	missense	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76694918G>A	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"Pleckstrin homology (PH) domain containing"	9501	protein-coding gene	gene with protein product		182115	"pleckstrin homology, Sec7 and coiled-coil domains 1"	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.683C>T	17.37:g.76694918G>A	ENSP00000389095:p.Pro228Leu		Somatic				CYTH1_ENST00000591455.1_Missense_Mutation_p.P228L|CYTH1_ENST00000585509.1_Missense_Mutation_p.P169L|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Missense_Mutation_p.P228L|CYTH1_ENST00000361101.4_Missense_Mutation_p.P228L	p.P169L			WXS	Illumina GAIIx	Phase_I	Q15438	CYH1_HUMAN			8	1198	-			228			SEC7.		A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37	c.506C>T		.	.	.	.	.	.	.	.	.	.	G	28.2	4.895274	0.91962	0.0	1.16E-4	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000392453	T;T	0.35973	1.28;1.28	5.33	5.33	0.75918	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.049013	0.85682	D	0.000000	T	0.71151	0.3306	H	0.96518	3.835	0.80722	D	1	D;D	0.69078	0.994;0.997	P;P	0.61592	0.891;0.884	T	0.81949	-0.0699	10	0.72032	D	0.01	.	19.026	0.92932	0.0:0.0:1.0:0.0	.	228;228	Q15438;Q15438-2	CYH1_HUMAN;.	L	228;228;169;169;228;65	ENSP00000389095:P228L;ENSP00000354398:P228L	ENSP00000262763:P228L	P	-	2	0	CYTH1	74206513	1.000000	0.71417	0.999000	0.59377	0.712000	0.41017	9.726000	0.98782	2.465000	0.83290	0.655000	0.94253	CCG		0.483	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762		75	194	0	0	0	1	0	75	194					A	76694918	G	A	76694918	3	1	30	1	0	0	0	0	1	0	0	0	4205	1116	39	1	537	1	CYTH1	17	76694918	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	37114332	76694918	4500292	115	2976										
NAPG	8774	broad.mit.edu	37	chr18	10540013	10540013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	aaaatgttgatccagagaagGctgtacagttatatcaacag	9	6	1	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr18:10540013G>A	ENST00000322897.6	+	7	466	c.397G>A	c.(397-399)Gct>Act	p.A133T	NAPG_ENST00000542979.1_Missense_Mutation_p.A51T	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	133					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						TCCAGAGAAGGCTGTACAGTT	0.289																																						ENST00000322897.6																			0				large_intestine(2)|lung(2)	4						c.(397-399)Gct>Act		N-ethylmaleimide-sensitive factor attachment protein, gamma							38	35	36					18																	10540013		1809	4076	5885	SO:0001583	missense	8774				cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	g.chr18:10540013G>A	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"gamma SNAP"	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.397G>A	18.37:g.10540013G>A	ENSP00000324628:p.Ala133Thr		Somatic				NAPG_ENST00000542979.1_Missense_Mutation_p.A51T	p.A133T	NM_003826.2	NP_003817.1	WXS	Illumina GAIIx	Phase_I	Q99747	SNAG_HUMAN			7	466	+			133					B4DFC9|Q9BUV1	Missense_Mutation	SNP	ENST00000322897.6	37	c.397G>A	CCDS45827.1	.	.	.	.	.	.	.	.	.	.	G	33	5.267972	0.95429	.	.	ENSG00000134265	ENST00000322897;ENST00000542979	D;D	0.93019	-3.15;-3.15	5.82	5.82	0.92795	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.97040	0.9033	M	0.87381	2.88	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	D	0.97103	0.9799	10	0.72032	D	0.01	-6.4568	20.1041	0.97884	0.0:0.0:1.0:0.0	.	133	Q99747	SNAG_HUMAN	T	133;51	ENSP00000324628:A133T;ENSP00000442849:A51T	ENSP00000324628:A133T	A	+	1	0	NAPG	10530013	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	8.932000	0.92897	2.755000	0.94549	0.555000	0.69702	GCT		0.289	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826		6	11	0	0	0	1	0	6	11					A	10540013	G	A	10540013	3	1	30	1	0	0	0	0	1	0	0	0	10173	1203	42	3	423	3	NAPG	18	10540013	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08		10540013	67537235	116	2977										
ACTL9	284382	broad.mit.edu	37	chr19	8807988	8807988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	gagcgcgcagcagctctgccCggaagcgaccctcgaagccg	14	16	1	0			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:8807988C>T	ENST00000324436.3	-	1	1184	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	355						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGCTCTGCCCGGAAGCGACC	0.652																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(1063-1065)cGg>cAg		actin-like 9							21	24	23					19																	8807988		2197	4293	6490	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8807988C>T		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1064G>A	19.37:g.8807988C>T	ENSP00000316674:p.Arg355Gln		Somatic					p.R355Q	NM_178525.3	NP_848620.2	WXS	Illumina GAIIx	Phase_I	Q8TC94	ACTL9_HUMAN			1	1184	-			355					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.1064G>A	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	c	0.007	-1.985040	0.00443	.	.	ENSG00000181786	ENST00000324436	D	0.93859	-3.3	4.58	-1.68	0.08212	.	1.841930	0.03779	N	0.260963	T	0.79405	0.4440	N	0.02334	-0.595	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.75317	-0.3360	10	0.02654	T	1	.	7.4842	0.27423	0.0:0.5162:0.1114:0.3724	.	355	Q8TC94	ACTL9_HUMAN	Q	355	ENSP00000316674:R355Q	ENSP00000316674:R355Q	R	-	2	0	ACTL9	8668988	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	-0.042000	0.12063	-0.180000	0.10637	-1.634000	0.00779	CGG		0.652	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		26	72	0	0	0	1	0	26	72					T	8807988	C	T	8807988	3	4	30	1	0	0	0	0	1	0	0	0	203	652	23	1	190	1	ACTL9	19	8807988	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08		8807988	50320995	117	2978										
MUC16	94025	broad.mit.edu	37	chr19	9064668	9064668	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	agatgtcttgtgacattgtgGactgctcagggcctgacatg	13	8	2	3			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:9064668G>C	ENST00000397910.4	-	3	22981	c.22778C>G	c.(22777-22779)tCc>tGc	p.S7593C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7595	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						TGACATTGTGGACTGCTCAGG	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.(22777-22779)tCc>tGc		mucin 16, cell surface associated							110	106	107					19																	9064668		2017	4182	6199	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064668G>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.22778C>G	19.37:g.9064668G>C	ENSP00000381008:p.Ser7593Cys		Somatic					p.S7593C	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	22981	-			7595			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.22778C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	3.659	-0.069942	0.07228	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	2.81	-5.62	0.02481	.	.	.	.	.	T	0.02571	0.0078	L	0.29908	0.895	.	.	.	P	0.50156	0.932	P	0.47162	0.54	T	0.08638	-1.0712	8	0.87932	D	0	.	1.9771	0.03418	0.4608:0.1306:0.2769:0.1317	.	7593	B5ME49	.	C	7593	ENSP00000381008:S7593C	ENSP00000381008:S7593C	S	-	2	0	MUC16	8925668	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.386000	0.07370	-2.004000	0.00961	-1.243000	0.01532	TCC		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	88	0	0	0	1	0	14	88					C	9064668	G	C	9064668	3	2	30	1	0	0	0	0	1	0	0	0	9982	1174	41	2	21073	2	MUC16	19	9064668	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	256680	9064668	50064315	118	2979										
CCDC159	126075	broad.mit.edu	37	chr19	11462749	11462749	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	acagaagcgcaggaggatgaGatctcagagaacttggtgaa	14	6	1	4			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:11462749G>A	ENST00000588790.1	+	9	954	c.507G>A	c.(505-507)gaG>gaA	p.E169E	CCDC159_ENST00000458408.1_Silent_p.E169E			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	284										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						AGGAGGATGAGATCTCAGAGA	0.582																																						ENST00000588790.1																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(505-507)gaG>gaA		coiled-coil domain containing 159							66	69	68					19																	11462749		1948	4132	6080	SO:0001819	synonymous_variant	126075							g.chr19:11462749G>A	BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.507G>A	19.37:g.11462749G>A			Somatic				CCDC159_ENST00000458408.1_Silent_p.E169E	p.E169E			WXS	Illumina GAIIx	Phase_I	P0C7I6	CC159_HUMAN			9	954	+			284					B4DEG3|B4DWR8|B4E133|B7ZAM4	Silent	SNP	ENST00000588790.1	37	c.507G>A	CCDS45976.1																																																																																				0.582	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458761.1	NM_001080503		11	61	0	0	0	1	0	11	61					A	11462749	G	A	11462749	2	1	30	1	0	0	0	0	0	0	0	1	2793	933	33	3		3	CCDC159	19	11462749	Silent	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	2398081	11462749	47666234	119	2980										
FARSA	2193	broad.mit.edu	37	chr19	13039265	13039265	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	aagttatcagtcggcatctcGgtgaacctggtgggagacac	13	9	2	2	rs369553087		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:13039265G>T	ENST00000314606.4	-	7	750	c.732C>A	c.(730-732)acC>acA	p.T244T	FARSA_ENST00000423140.2_Silent_p.T213T|CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000588025.1_Silent_p.T284T	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	244					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TCGGCATCTCGGTGAACCTGG	0.607																																						ENST00000588025.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20						c.(850-852)acC>acA		phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)						93	91	92					19																	13039265		2203	4300	6503	SO:0001819	synonymous_variant	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13039265G>T	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.732C>A	19.37:g.13039265G>T			Somatic				FARSA_ENST00000314606.4_Silent_p.T244T|FARSA_ENST00000423140.2_Silent_p.T213T	p.T284T			WXS	Illumina GAIIx	Phase_I	Q9Y285	SYFA_HUMAN			8	992	-			244					B4E363|Q9NSD8|Q9Y4W8	Silent	SNP	ENST00000314606.4	37	c.852C>A	CCDS12287.1																																																																																				0.607	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		25	62	1	0	1.42536e-11	1	1.56602e-11	25	62					T	13039265	G	T	13039265	2	4	30	1	0	0	0	0	0	0	0	1	5687	1103	39	5		5	FARSA	19	13039265	Silent	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	1576516	13039265	46089718	120	2981										
LPHN1	22859	broad.mit.edu	37	chr19	14261831	14261831	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ggccaccagggctggcgggcGcgaggtgtagtagatttcgg	19	9	0	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:14261831G>C	ENST00000340736.6	-	24	4576	c.4279C>G	c.(4279-4281)Cgc>Ggc	p.R1427G	LPHN1_ENST00000361434.3_Missense_Mutation_p.R1422G|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1427					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						GCTGGCGGGCGCGAGGTGTAG	0.731																																						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.(4279-4281)Cgc>Ggc		latrophilin 1							4	6	5					19																	14261831		1940	3954	5894	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14261831G>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.4279C>G	19.37:g.14261831G>C	ENSP00000340688:p.Arg1427Gly		Somatic				LPHN1_ENST00000361434.3_Missense_Mutation_p.R1422G|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	p.R1427G	NM_001008701.2	NP_001008701.1	WXS	Illumina GAIIx	Phase_I	O94910	LPHN1_HUMAN			24	4576	-			1427					Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.4279C>G	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	G	2.012	-0.426865	0.04701	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.69561	-0.41;-0.41	3.94	3.94	0.45596	GPCR, family 2, latrophilin, C-terminal (1);	0.069907	0.56097	D	0.000021	T	0.40909	0.1136	N	0.03115	-0.41	0.40767	D	0.983052	B;B	0.10296	0.003;0.003	B;B	0.14023	0.006;0.01	T	0.33701	-0.9858	10	0.38643	T	0.18	.	9.7104	0.40243	0.0:0.2129:0.7871:0.0	.	1422;1427	O94910-2;O94910	.;LPHN1_HUMAN	G	1427;1422	ENSP00000340688:R1427G;ENSP00000355328:R1422G	ENSP00000340688:R1427G	R	-	1	0	LPHN1	14122831	0.992000	0.36948	0.983000	0.44433	0.572000	0.35998	2.487000	0.45268	1.764000	0.52075	0.205000	0.17691	CGC		0.731	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		3	12	0	0	0	1	0	3	12					C	14261831	G	C	14261831	3	2	30	1	0	0	0	0	1	0	0	0	8924	1087	38	5	149	5	LPHN1	19	14261831	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	1222566	14261831	44867152	121	2982										
CYP4F2	8529	broad.mit.edu	37	chr19	15990171	15990171	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	cttacctgggccctgccgagAagggaataaaagccagaggt	13	10	0	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:15990171A>C	ENST00000221700.6	-	12	1477	c.1382T>G	c.(1381-1383)tTc>tGc	p.F461C		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCCTGCCGAGAAGGGAATAAA	0.577																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1381-1383)tTc>tGc		cytochrome P450, family 4, subfamily F, polypeptide 2							143	147	145					19																	15990171		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.chr19:15990171A>C	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.1382T>G	19.37:g.15990171A>C	ENSP00000221700:p.Phe461Cys		Somatic				CYP4F2_ENST00000592328.1_Missense_Mutation_p.F461C	p.F461C	NM_001082.3	NP_001073.3	WXS	Illumina GAIIx	Phase_I	P78329	CP4F2_HUMAN			12	1477	-			461						Missense_Mutation	SNP	ENST00000221700.6	37	c.1382T>G	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	a	15.46	2.839388	0.51057	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	D	0.96365	-3.99	3.05	2.02	0.26589	Cytochrome P450, conserved site (1);	0.000000	0.64402	U	0.000002	D	0.98532	0.9510	H	0.98525	4.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96726	0.9536	10	0.87932	D	0	.	6.4196	0.21736	0.8707:0.0:0.1293:0.0	.	461	P78329	CP4F2_HUMAN	C	461;312	ENSP00000221700:F461C	ENSP00000221700:F461C	F	-	2	0	CYP4F2	15851171	1.000000	0.71417	0.981000	0.43875	0.870000	0.49936	4.952000	0.63618	0.365000	0.24400	0.402000	0.26972	TTC		0.577	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		7	328	0	0	0	1	0	7	328					C	15990171	A	C	15990171	3	2	30	1	0	0	0	0	1	0	0	0	4190	246	9	4	188	4	CYP4F2	19	15990171	Missense_Mutation	SNP	A	TCGA-N8-A4PP-01A-11D-A28R-08	1728340	15990171	43138812	122	2983										
NOVA2	4858	broad.mit.edu	37	chr19	46443289	46443289	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ttggagatctggatgcgagcGcccgtcagctcctggtactc	13	12	2	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:46443289G>T	ENST00000263257.5	-	4	1505	c.1311C>A	c.(1309-1311)ggC>ggA	p.G437G		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	437	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)	p.G437G(1)		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)		GGATGCGAGCGCCCGTCAGCT	0.662																																						ENST00000263257.5																			1	Substitution - coding silent(1)	p.G437G(1)	lung(1)	endometrium(3)|large_intestine(5)|lung(13)	21						c.(1309-1311)ggC>ggA		neuro-oncological ventral antigen 2							106	109	108					19																	46443289		2203	4300	6503	SO:0001819	synonymous_variant	4858					nucleus	RNA binding	g.chr19:46443289G>T	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"neuro-oncological ventral antigen 3"	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.1311C>A	19.37:g.46443289G>T			Somatic					p.G437G	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	1505	-		all_neural(266;0.113)|Ovarian(192;0.127)	437			KH 3.		O43267|Q9UEA1	Silent	SNP	ENST00000263257.5	37	c.1311C>A	CCDS12679.1																																																																																				0.662	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		41	159	1	0	3.76604e-16	1	4.27842e-16	41	159					T	46443289	G	T	46443289	2	4	30	1	0	0	0	0	0	0	0	1	10564	1074	38	5		5	NOVA2	19	46443289	Silent	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08	30453118	46443289	12685694	123	2984										
PPP2R1A	5518	broad.mit.edu	37	chr19	52716323	52716323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ccaggccgctgaagacaagtCctggcgcgtccgctacatgg	13	14	0	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:52716323C>T	ENST00000322088.6	+	6	825	c.767C>T	c.(766-768)tCc>tTc	p.S256F	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S201F|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S77F	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	256	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.S256F(11)|p.S256Y(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GAAGACAAGTCCTGGCGCGTC	0.617			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		16	Substitution - Missense(16)	p.S256F(11)|p.S256Y(5)	endometrium(15)|ovary(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(766-768)tCc>tTc		protein phosphatase 2, regulatory subunit A, alpha							43	39	41					19																	52716323		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52716323C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.767C>T	19.37:g.52716323C>T	ENSP00000324804:p.Ser256Phe		Somatic				PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S77F|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S201F	p.S256F	NM_014225.5	NP_055040.2	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	6	825	+			256			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.767C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643837	0.87859	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.37058	1.22;1.22	4.48	4.48	0.54585	Armadillo-like helical (1);Armadillo-type fold (1);	0.105490	0.41001	D	0.000967	T	0.69753	0.3146	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.79401	-0.1819	10	0.87932	D	0	-23.4629	15.0763	0.72080	0.0:1.0:0.0:0.0	.	201;256;256	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	F	246;176;256;201	ENSP00000324804:S256F;ENSP00000415067:S201F	ENSP00000324804:S256F	S	+	2	0	PPP2R1A	57408135	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.017000	0.64047	2.490000	0.84030	0.655000	0.94253	TCC		0.617	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		13	38	0	0	0	1	0	13	38					T	52716323	C	T	52716323	3	4	30	1	0	0	0	0	1	0	0	0	12394	855	30	3	789	3	PPP2R1A	19	52716323	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	6273034	52716323	6412660	124	2985										
ZFP28	140612	broad.mit.edu	37	chr19	57065752	57065752	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tcatactggagagaaaccttAcaaatgtgatgtatgtcaca	8	7	2	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:57065752A>T	ENST00000301318.3	+	8	1669	c.1598A>T	c.(1597-1599)tAc>tTc	p.Y533F	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	533					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)		GAGAAACCTTACAAATGTGAT	0.418																																					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.(1597-1599)tAc>tTc		ZFP28 zinc finger protein							59	54	56					19																	57065752		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57065752A>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.1598A>T	19.37:g.57065752A>T	ENSP00000301318:p.Tyr533Phe		Somatic				AC007228.11_ENST00000596587.1_RNA	p.Y533F	NM_020828.1	NP_065879.1	WXS	Illumina GAIIx	Phase_I	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	1669	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	533					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.1598A>T	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.288030	0.40494	.	.	ENSG00000196867	ENST00000301318	T	0.18338	2.22	4.3	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41712	D	0.000838	T	0.17662	0.0424	N	0.03000	-0.44	0.80722	D	1	D	0.58970	0.984	D	0.77557	0.99	T	0.36553	-0.9743	10	0.36615	T	0.2	.	12.8473	0.57837	1.0:0.0:0.0:0.0	.	533	Q8NHY6	ZFP28_HUMAN	F	533	ENSP00000301318:Y533F	ENSP00000301318:Y533F	Y	+	2	0	ZFP28	61757564	0.019000	0.18553	0.998000	0.56505	0.998000	0.95712	0.788000	0.26872	1.935000	0.56089	0.528000	0.53228	TAC		0.418	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		5	41	0	0	0	1	0	5	41					T	57065752	A	T	57065752	3	4	30	1	0	0	0	0	1	0	0	0	17657	391	14	4	1628	4	ZFP28	19	57065752	Missense_Mutation	SNP	A	TCGA-N8-A4PP-01A-11D-A28R-08	4349429	57065752	2063231	125	2986										
UQCC	55245	broad.mit.edu	37	chr20	33971845	33971845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	cactgataattctcaccttaCgtgtggtgtgatacttccta	7	10	1	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr20:33971845C>T	ENST00000374385.5	-	3	398	c.221G>A	c.(220-222)cGt>cAt	p.R74H	UQCC1_ENST00000374380.2_Intron|UQCC1_ENST00000359226.2_Missense_Mutation_p.R74H|UQCC1_ENST00000349714.5_Missense_Mutation_p.R74H|UQCC1_ENST00000374384.2_Missense_Mutation_p.R74H|UQCC1_ENST00000397554.1_Missense_Mutation_p.R74H|UQCC1_ENST00000407996.2_Splice_Site|UQCC1_ENST00000491125.1_5'UTR|UQCC1_ENST00000397556.3_Intron|UQCC1_ENST00000540457.1_Intron|UQCC1_ENST00000374377.5_Intron|UQCC1_ENST00000542501.1_Missense_Mutation_p.R74H	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	74						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											TCTCACCTTACGTGTGGTGTG	0.433																																						ENST00000397554.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17						c.(220-222)cGt>cAt									174	140	151					20																	33971845		2203	4300	6503	SO:0001583	missense	0					cytoplasmic membrane-bounded vesicle		g.chr20:33971845C>T	AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"Mitochondrial respiratory chain complex assembly factors"	15891	protein-coding gene	gene with protein product	"Basic FGF-repressed Zic-binding protein", "cytochrome B protein synthesis 3 homolog (S. cerevisiae)"	611797	"chromosome 20 open reading frame 44", "ubiquinol-cytochrome c reductase complex chaperone"	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.221G>A	20.37:g.33971845C>T	ENSP00000363506:p.Arg74His		Somatic				UQCC_ENST00000397556.3_Intron|UQCC_ENST00000374384.2_Missense_Mutation_p.R74H|UQCC_ENST00000359226.2_Missense_Mutation_p.R74H|UQCC_ENST00000349714.5_Missense_Mutation_p.R74H|UQCC_ENST00000542501.1_Missense_Mutation_p.R74H|UQCC_ENST00000374385.5_Missense_Mutation_p.R74H|UQCC_ENST00000407996.2_Splice_Site|UQCC_ENST00000374380.2_Intron|UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000540457.1_Intron|UQCC_ENST00000374377.5_Intron	p.R74H			WXS	Illumina GAIIx	Phase_I	Q9NVA1	UQCC_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		3	231	-			74					B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	ENST00000374385.5	37	c.221G>A	CCDS13252.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.916|4.916	0.170268|0.170268	0.09339|0.09339	.|.	.|.	ENSG00000101019|ENSG00000101019	ENST00000407996|ENST00000349714;ENST00000359226;ENST00000374384;ENST00000374385;ENST00000542501;ENST00000438533;ENST00000397554	.|D;D;D;D;D;D;D	.|0.86497	.|-2.13;-2.13;-2.13;-2.13;-2.13;-2.13;-2.13	5.02|5.02	-3.04|-3.04	0.05412|0.05412	.|.	.|0.767476	.|0.12669	.|N	.|0.448911	.|T	.|0.57548	.|0.2061	N|N	0.01048|0.01048	-1.04|-1.04	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.13145	.|0.0;0.007;0.0;0.0	.|B;B;B;B	.|0.06405	.|0.0;0.002;0.001;0.001	.|T	.|0.53899	.|-0.8373	.|10	.|0.37606	.|T	.|0.19	.|-3.5732	1.74|1.74	0.02950|0.02950	0.152:0.3653:0.1568:0.3259|0.152:0.3653:0.1568:0.3259	.|.	.|74;74;74;74	.|B7ZBG3;B1AKV2;B7ZBG4;Q9NVA1	.|.;.;.;UQCC_HUMAN	.|H	-1|74;74;74;74;74;88;74	.|ENSP00000335364:R74H;ENSP00000352161:R74H;ENSP00000363505:R74H;ENSP00000363506:R74H;ENSP00000445059:R74H;ENSP00000398531:R88H;ENSP00000380686:R74H	.|ENSP00000335364:R74H	.|R	-|-	.|2	.|0	UQCC|UQCC	33435259|33435259	0.961000|0.961000	0.32948|0.32948	0.722000|0.722000	0.30670|0.30670	0.356000|0.356000	0.29392|0.29392	0.124000|0.124000	0.15728|0.15728	-0.152000|-0.152000	0.11156|0.11156	-0.238000|-0.238000	0.12139|0.12139	.|CGT		0.433	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078866.1	NM_018244		8	24	0	0	0	1	0	8	24					T	33971845	C	T	33971845	3	4	30	1	0	0	0	0	1	0	0	0	17030	536	19	1	710	1	UQCC	20	33971845	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08		33971845	29053675	126	2987										
TSHZ2	128553	broad.mit.edu	37	chr20	51871857	51871857	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tgtgggaaagaaagtccccaCgaagaggcctcatctttcag	11	10	3	2	rs143642849		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr20:51871857C>G	ENST00000371497.5	+	2	2747	c.1860C>G	c.(1858-1860)caC>caG	p.H620Q	TSHZ2_ENST00000603338.2_Missense_Mutation_p.H617Q|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.H617Q	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	620					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)			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)			AAAGTCCCCACGAAGAGGCCT	0.517																																						ENST00000371497.5																			0				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.(1858-1860)caC>caG		teashirt zinc finger homeobox 2							78	81	80					20																	51871857		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.chr20:51871857C>G	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.1860C>G	20.37:g.51871857C>G	ENSP00000360552:p.His620Gln		Somatic				TSHZ2_ENST00000603338.2_Missense_Mutation_p.H617Q|TSHZ2_ENST00000329613.6_Missense_Mutation_p.H617Q	p.H620Q	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	2747	+			620					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1860C>G	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.500776	0.00010	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.37235	1.21;1.21	5.24	-10.5	0.00291	.	0.716345	0.14341	N	0.325745	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39702	-0.9601	10	0.13108	T	0.6	-2.6116	2.2664	0.04079	0.1387:0.2486:0.2228:0.3899	.	620	Q9NRE2	TSH2_HUMAN	Q	620;617;146	ENSP00000360552:H620Q;ENSP00000333114:H617Q	ENSP00000333114:H617Q	H	+	3	2	TSHZ2	51305264	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-5.005000	0.00161	-5.748000	0.00010	-2.228000	0.00293	CAC		0.517	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		35	113	0	0	0	1	0	35	113					G	51871857	C	G	51871857	3	3	30	1	0	0	0	0	1	0	0	0	16639	535	19	5	1866	5	TSHZ2	20	51871857	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08	17900012	51871857	11153663	127	2988										
SON	6651	broad.mit.edu	37	chr21	34926321	34926321	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	tgcaggagaaactctatcttCtactggtccttttgctctgg	9	10	4	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr21:34926321C>T	ENST00000356577.4	+	3	5259	c.4784C>T	c.(4783-4785)tCt>tTt	p.S1595F	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.S1595F|SON_ENST00000300278.4_Missense_Mutation_p.S1595F|SON_ENST00000290239.6_Missense_Mutation_p.S1595F	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1595					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						ACTCTATCTTCTACTGGTCCT	0.413																																						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.(4783-4785)tCt>tTt		SON DNA binding protein							72	76	75					21																	34926321		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.chr21:34926321C>T	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.4784C>T	21.37:g.34926321C>T	ENSP00000348984:p.Ser1595Phe		Somatic				SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.S1595F|SON_ENST00000381679.4_Missense_Mutation_p.S1595F|SON_ENST00000300278.4_Missense_Mutation_p.S1595F	p.S1595F	NM_138927.1	NP_620305.1	WXS	Illumina GAIIx	Phase_I	P18583	SON_HUMAN			3	5259	+			1595					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.4784C>T	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	1.909	-0.451098	0.04572	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.15487	2.64;2.62;2.6;2.42	4.87	1.95	0.26073	.	0.708385	0.12886	N	0.430978	T	0.32041	0.0816	L	0.50333	1.59	0.09310	N	1	P;P;P;P;D	0.71674	0.545;0.553;0.545;0.799;0.998	B;B;B;B;D	0.77004	0.206;0.102;0.136;0.206;0.989	T	0.08638	-1.0712	10	0.87932	D	0	.	8.0973	0.30835	0.1711:0.4979:0.331:0.0	.	1595;1595;1276;1595;1595	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	F	1595	ENSP00000348984:S1595F;ENSP00000290239:S1595F;ENSP00000300278:S1595F;ENSP00000371095:S1595F	ENSP00000290239:S1595F	S	+	2	0	SON	33848191	0.833000	0.29383	0.044000	0.18714	0.180000	0.23129	3.492000	0.53259	0.215000	0.20761	0.491000	0.48974	TCT		0.413	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		26	64	0	0	0	1	0	26	64					T	34926321	C	T	34926321	3	4	30	1	0	0	0	0	1	0	0	0	14941	913	32	3	4794	3	SON	21	34926321	Missense_Mutation	SNP	C	TCGA-N8-A4PP-01A-11D-A28R-08		34926321	13203574	128	2989										
PIWIL3	440822	broad.mit.edu	37	chr22	25153946	25153946	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	ggtcttgaaaaactccaccaAtccttctctcctgcaagggc	7	14	2	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr22:25153946A>G	ENST00000332271.5	-	4	700	c.284T>C	c.(283-285)aTt>aCt	p.I95T	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000527701.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	95					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						AACTCCACCAATCCTTCTCTC	0.438																																						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.(283-285)aTt>aCt		piwi-like RNA-mediated gene silencing 3							208	214	212					22																	25153946		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.chr22:25153946A>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.284T>C	22.37:g.25153946A>G	ENSP00000330031:p.Ile95Thr		Somatic				PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000533313.1_5'UTR	p.I95T	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	WXS	Illumina GAIIx	Phase_I	Q7Z3Z3	PIWL3_HUMAN			4	700	-			95						Missense_Mutation	SNP	ENST00000332271.5	37	c.284T>C	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	A	4.161	0.028407	0.08054	.	.	ENSG00000184571	ENST00000332271	T	0.04156	3.69	1.79	-3.58	0.04597	.	45.696700	0.00829	U	0.001641	T	0.04048	0.0113	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.19331	0.004;0.035	B;B	0.12837	0.003;0.008	T	0.41233	-0.9520	10	0.12766	T	0.61	5.6334	7.6642	0.28421	0.2013:0.6629:0.1358:0.0	.	95;95	B4DYF7;Q7Z3Z3	.;PIWL3_HUMAN	T	95	ENSP00000330031:I95T	ENSP00000330031:I95T	I	-	2	0	PIWIL3	23483946	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-1.062000	0.03468	-1.370000	0.02144	0.254000	0.18369	ATT		0.438	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		86	155	0	0	0	1	0	86	155					G	25153946	A	G	25153946	3	3	30	1	0	0	0	0	1	0	0	0	11968	101	4	4	2436	4	PIWIL3	22	25153946	Missense_Mutation	SNP	A	TCGA-N8-A4PP-01A-11D-A28R-08		25153946	26150620	129	2990										
XPNPEP3	63929	broad.mit.edu	37	chr22	41320470	41320470	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	cctctgcagcctgggatggtAatcacaattgagcccggtaa	11	11	2	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr22:41320470A>C	ENST00000357137.4	+	9	1425	c.1341A>C	c.(1339-1341)gtA>gtC	p.V447V	XPNPEP3_ENST00000544094.1_Silent_p.V424V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	447					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						CTGGGATGGTAATCACAATTG	0.473																																					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.(1339-1341)gtA>gtC		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							134	105	115					22																	41320470		2203	4300	6503	SO:0001819	synonymous_variant	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41320470A>C		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.1341A>C	22.37:g.41320470A>C			Somatic				XPNPEP3_ENST00000544094.1_Silent_p.V424V	p.V447V	NM_022098.3	NP_071381.1	WXS	Illumina GAIIx	Phase_I	Q9NQH7	XPP3_HUMAN			9	1425	+			447					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Silent	SNP	ENST00000357137.4	37	c.1341A>C	CCDS14007.1																																																																																				0.473	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		9	31	0	0	0	1	0	9	31					C	41320470	A	C	41320470	2	2	30	1	0	0	0	0	0	0	0	1	17459	349	13	4		4	XPNPEP3	22	41320470	Silent	SNP	A	TCGA-N8-A4PP-01A-11D-A28R-08	16166524	41320470	9984096	130	2991										
TLR7	51284	broad.mit.edu	37	chrX	12903969	12903969	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	aaaaacaacatgtgcatcaaGaggctgcagattaaacccag	8	9	1	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrX:12903969G>T	ENST00000380659.3	+	3	481	c.342G>T	c.(340-342)aaG>aaT	p.K114N		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	114					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TGTGCATCAAGAGGCTGCAGA	0.478																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(340-342)aaG>aaT		toll-like receptor 7	Imiquimod(DB00724)						106	103	104					X																	12903969		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12903969G>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.342G>T	X.37:g.12903969G>T	ENSP00000370034:p.Lys114Asn		Somatic					p.K114N	NM_016562.3	NP_057646.1	WXS	Illumina GAIIx	Phase_I	Q9NYK1	TLR7_HUMAN			3	481	+			114					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.342G>T	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	0.488	-0.876802	0.02550	.	.	ENSG00000196664	ENST00000380659	T	0.32988	1.43	5.78	2.64	0.31445	.	0.896444	0.09509	N	0.792653	T	0.20455	0.0492	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36432	-0.9748	10	0.19590	T	0.45	.	1.7503	0.02970	0.3274:0.1259:0.4149:0.1318	.	114	Q9NYK1	TLR7_HUMAN	N	114	ENSP00000370034:K114N	ENSP00000370034:K114N	K	+	3	2	TLR7	12813890	0.005000	0.15991	0.000000	0.03702	0.029000	0.11900	0.100000	0.15231	0.076000	0.16826	0.589000	0.80489	AAG		0.478	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		39	80	1	0	9.62906e-15	1	1.07923e-14	39	80					T	12903969	G	T	12903969	3	4	30	1	0	0	0	0	1	0	0	0	15971	933	33	2	348	2	TLR7	23	12903969	Missense_Mutation	SNP	G	TCGA-N8-A4PP-01A-11D-A28R-08		12903969	142366591	131	2992										
PHKA2	5256	broad.mit.edu	37	chrX	18972448	18972448	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	aggccatgcccaggccccacAcggccaggatactgtagatg	12	14	0	1			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrX:18972448A>C	ENST00000379942.4	-	2	826	c.161T>G	c.(160-162)gTg>gGg	p.V54G		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	54					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CAGGCCCCACACGGCCAGGAT	0.567																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(160-162)gTg>gGg		phosphorylase kinase, alpha 2 (liver)							126	89	101					X																	18972448		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18972448A>C		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.161T>G	X.37:g.18972448A>C	ENSP00000369274:p.Val54Gly		Somatic					p.V54G	NM_000292.2	NP_000283.1	WXS	Illumina GAIIx	Phase_I	P46019	KPB2_HUMAN			2	826	-	Hepatocellular(33;0.183)		54					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.161T>G	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	A	30	5.057400	0.93846	.	.	ENSG00000044446	ENST00000379942	D	0.93019	-3.15	5.65	5.65	0.86999	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.97451	0.9166	M	0.93197	3.39	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	D	0.98415	1.0574	10	0.87932	D	0	-19.1455	14.9145	0.70785	1.0:0.0:0.0:0.0	.	54	P46019	KPB2_HUMAN	G	54	ENSP00000369274:V54G	ENSP00000369274:V54G	V	-	2	0	PHKA2	18882369	1.000000	0.71417	0.981000	0.43875	0.928000	0.56348	9.284000	0.95882	1.904000	0.55121	0.486000	0.48141	GTG		0.567	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		27	47	0	0	0	1	0	27	47					C	18972448	A	C	18972448	3	2	30	1	0	0	0	0	1	0	0	0	11853	159	6	4	3674	4	PHKA2	23	18972448	Missense_Mutation	SNP	A	TCGA-N8-A4PP-01A-11D-A28R-08	6068479	18972448	136298112	132	2993										
NSDHL	50814	broad.mit.edu	37	chrX	152037350	152037350	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0676691729323308	9	1	1.05789473684211	2.14645308924485	0.38122332859175	0.117538005190953	0.605042016806723	0	atttcacatcaccaatgatgAgcccatccctttctggacat	5	13	3	2			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrX:152037350A>C	ENST00000370274.3	+	8	1006	c.812A>C	c.(811-813)gAg>gCg	p.E271A	NSDHL_ENST00000440023.1_Missense_Mutation_p.E271A	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	271					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)					ACCAATGATGAGCCCATCCCT	0.532																																						ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(811-813)gAg>gCg		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						213	194	200					X																	152037350		2203	4300	6503	SO:0001583	missense	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:152037350A>C	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.812A>C	X.37:g.152037350A>C	ENSP00000359297:p.Glu271Ala		Somatic				NSDHL_ENST00000440023.1_Missense_Mutation_p.E271A	p.E271A	NM_015922.2	NP_057006.1	WXS	Illumina GAIIx	Phase_I	Q15738	NSDHL_HUMAN			8	1006	+	Acute lymphoblastic leukemia(192;6.56e-05)		271					D3DWT6|O00344	Missense_Mutation	SNP	ENST00000370274.3	37	c.812A>C	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.166080	0.78339	.	.	ENSG00000147383	ENST00000370274;ENST00000440023	D;D	0.84516	-1.86;-1.86	4.4	4.4	0.53042	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.051362	0.85682	D	0.000000	D	0.90235	0.6947	M	0.72118	2.19	0.53688	D	0.999978	D	0.89917	1.0	D	0.69479	0.964	D	0.90657	0.4587	10	0.62326	D	0.03	-2.6147	11.1388	0.48390	1.0:0.0:0.0:0.0	.	271	Q15738	NSDHL_HUMAN	A	271	ENSP00000359297:E271A;ENSP00000391854:E271A	ENSP00000359297:E271A	E	+	2	0	NSDHL	151788006	1.000000	0.71417	0.844000	0.33320	0.931000	0.56810	9.216000	0.95154	1.704000	0.51252	0.441000	0.28932	GAG		0.532	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		22	217	0	0	0	1	0	22	217					C	152037350	A	C	152037350	3	2	30	1	0	0	0	0	1	0	0	0	10679	304	11	4	838	4	NSDHL	23	152037350	Missense_Mutation	SNP	A	TCGA-N8-A4PP-01A-11D-A28R-08	133064902	152037350	3233210	133	2994										
MEGF6	1953	broad.mit.edu	37	chr1	3418372	3418372	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	acactcacctgcctcacagtCttccccagtcctccccggcg	6	21	3	0			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:3418372C>A	ENST00000356575.4	-	18	2528	c.2302G>T	c.(2302-2304)Gac>Tac	p.D768Y	MEGF6_ENST00000294599.4_Missense_Mutation_p.D663Y	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	768	EGF-like 12. {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)		GCCTCACAGTCTTCCCCAGTC	0.711																																					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.(2302-2304)Gac>Tac		multiple EGF-like-domains 6							23	32	29					1																	3418372		2016	4159	6175	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3418372C>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.2302G>T	1.37:g.3418372C>A	ENSP00000348982:p.Asp768Tyr		Somatic				MEGF6_ENST00000294599.4_Missense_Mutation_p.D663Y	p.D768Y	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)	18	2528	-	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)	768			EGF-like 12.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.2302G>T	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	5.945	0.358315	0.11239	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.63417	-0.04;-0.04	3.58	3.58	0.41010	EGF-like, laminin (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.453467	0.22657	U	0.057252	T	0.60881	0.2303	L	0.39898	1.24	0.22866	N	0.998638	P;D	0.53151	0.93;0.958	P;P	0.54544	0.598;0.755	T	0.49881	-0.8892	10	0.32370	T	0.25	-33.53	8.7919	0.34857	0.0:0.8911:0.0:0.1089	.	768;663	O75095;O75095-2	MEGF6_HUMAN;.	Y	663;768	ENSP00000294599:D663Y;ENSP00000348982:D768Y	ENSP00000294599:D663Y	D	-	1	0	MEGF6	3408232	0.021000	0.18746	0.826000	0.32828	0.013000	0.08279	1.724000	0.38064	1.686000	0.51046	0.455000	0.32223	GAC		0.711	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		12	22	1	0	6.40141e-05	1	6.90348e-05	12	22					A	3418372	C	A	3418372	3	1	31	1	0	0	0	0	1	0	0	0	9471	913	32	2	2403	2	MEGF6	1	3418372	Missense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08		3418372	245832249	1	2995										
RAB42	115273	broad.mit.edu	37	chr1	28920318	28920318	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	ggcaccaggaggtcatggccActcagggcccggacaaggtc	15	13	2	0			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:28920318A>T	ENST00000373826.3	+	2	313	c.7A>T	c.(7-9)Act>Tct	p.T3S	TAF12_ENST00000471683.1_Intron|RAB42_ENST00000465518.1_3'UTR	NM_152304.1	NP_689517.1	Q8N4Z0	RAB42_HUMAN	RAB42, member RAS oncogene family	3					small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCATGGCCACTCAGGGCCC	0.577																																						ENST00000373826.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(7-9)Act>Tct		RAB42, member RAS oncogene family							6	6	6					1																	28920318		2170	4214	6384	SO:0001583	missense	115273				small GTPase mediated signal transduction	membrane	GTP binding	g.chr1:28920318A>T	BC033175	CCDS325.1	1p35.3	2014-02-12	2006-04-28		ENSG00000188060	ENSG00000188060		"RAB, member RAS oncogene"	28702	protein-coding gene	gene with protein product			"RAB42, member RAS homolog family"				Standard	NM_152304		Approved	MGC45806	uc001bqv.3	Q8N4Z0	OTTHUMG00000003656	ENST00000373826.3:c.7A>T	1.37:g.28920318A>T	ENSP00000362932:p.Thr3Ser		Somatic				TAF12_ENST00000471683.1_Intron|RAB42_ENST00000465518.1_3'UTR	p.T3S	NM_152304.1	NP_689517.1	WXS	Illumina GAIIx	Phase_I	Q8N4Z0	RAB42_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)	2	313	+		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	3					B2R5G2	Missense_Mutation	SNP	ENST00000373826.3	37	c.7A>T	CCDS325.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.338176	0.41398	.	.	ENSG00000188060	ENST00000373826	T	0.79247	-1.25	5.56	4.44	0.53790	.	0.284083	0.25631	N	0.029352	T	0.49762	0.1576	N	0.03930	-0.32	0.26432	N	0.975923	B	0.28233	0.204	B	0.30105	0.111	T	0.32640	-0.9899	10	0.20519	T	0.43	.	3.4652	0.07548	0.6276:0.2367:0.1357:0.0	.	3	Q8N4Z0	RAB42_HUMAN	S	3	ENSP00000362932:T3S	ENSP00000362932:T3S	T	+	1	0	RAB42	28792905	0.001000	0.12720	0.997000	0.53966	0.609000	0.37215	0.919000	0.28692	2.112000	0.64535	0.459000	0.35465	ACT		0.577	RAB42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010371.1	NM_152304		7	6	0	0	0	1	0	7	6					T	28920318	A	T	28920318	3	4	31	1	0	0	0	0	1	0	0	0	12959	159	6	4	9	4	RAB42	1	28920318	Missense_Mutation	SNP	A	TCGA-N8-A4PQ-01A-11D-A28R-08	25501946	28920318	220330303	2	2996										
TMEM125	128218	broad.mit.edu	37	chr1	43738488	43738488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	gtggtggtcccagcagccgcGgcgctcggcgctctgcttcg	16	15	1	0	rs200069787	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:43738488G>A	ENST00000432792.2	+	4	665	c.95G>A	c.(94-96)cGg>cAg	p.R32Q	TMEM125_ENST00000439858.1_Missense_Mutation_p.R32Q			Q96AQ2	TM125_HUMAN	transmembrane protein 125	32						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGCAGCCGCGGCGCTCGGCG	0.711													G|||	3	0.000599042	0.0023	0	5008	,	,		14457	0		0	False		,,,				2504	0					ENST00000432792.2																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(94-96)cGg>cAg		transmembrane protein 125		G	GLN/ARG	4,4316		0,4,2156	8	10	9		95	4.9	0.9	1		9	0,8424		0,0,4212	yes	missense	TMEM125	NM_144626.2	43	0,4,6368	AA,AG,GG		0.0,0.0926,0.0314	probably-damaging	32/220	43738488	4,12740	2160	4212	6372	SO:0001583	missense	128218					integral to membrane		g.chr1:43738488G>A	BC016858	CCDS480.1	1p34.2	2006-02-16			ENSG00000179178	ENSG00000179178			28275	protein-coding gene	gene with protein product							Standard	NM_144626		Approved	MGC17299	uc021oml.1	Q96AQ2	OTTHUMG00000007288	ENST00000432792.2:c.95G>A	1.37:g.43738488G>A	ENSP00000429275:p.Arg32Gln		Somatic				TMEM125_ENST00000439858.1_Missense_Mutation_p.R32Q	p.R32Q			WXS	Illumina GAIIx	Phase_I	Q96AQ2	TM125_HUMAN			4	665	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	32					D3DPX1	Missense_Mutation	SNP	ENST00000432792.2	37	c.95G>A	CCDS480.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650715	0.67472	9.26E-4	0.0	ENSG00000179178	ENST00000439858;ENST00000432792	T;T	0.46819	0.86;0.86	4.9	4.9	0.64082	.	0.396731	0.24806	N	0.035453	T	0.52901	0.1763	L	0.46157	1.445	0.21290	N	0.999732	D	0.76494	0.999	P	0.60345	0.873	T	0.46569	-0.9182	10	0.45353	T	0.12	.	7.2772	0.26292	0.0931:0.0:0.7376:0.1693	.	32	Q96AQ2	TM125_HUMAN	Q	32	ENSP00000429775:R32Q;ENSP00000429275:R32Q	ENSP00000429275:R32Q	R	+	2	0	TMEM125	43511075	0.253000	0.23982	0.893000	0.35052	0.647000	0.38526	2.421000	0.44688	2.247000	0.74100	0.462000	0.41574	CGG		0.711	TMEM125-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019032.2	NM_144626		3	13	0	0	0	1	0	3	13					A	43738488	G	A	43738488	3	1	31	1	0	0	0	0	1	0	0	0	16052	1116	39	1	97	1	TMEM125	1	43738488	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	14818170	43738488	205512133	3	2997										
C1orf177	163747	broad.mit.edu	37	chr1	55277787	55277787	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	acatatgtggcacgatccgtCggcacccgcggcccctatga	11	15	0	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:55277787C>A	ENST00000371273.3	+	6	702	c.687C>A	c.(685-687)gtC>gtA	p.V229V	C1orf177_ENST00000358193.3_Silent_p.V229V	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	229										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CACGATCCGTCGGCACCCGCG	0.587																																						ENST00000358193.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(685-687)gtC>gtA		chromosome 1 open reading frame 177							98	95	96					1																	55277787		2203	4300	6503	SO:0001819	synonymous_variant	163747							g.chr1:55277787C>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.687C>A	1.37:g.55277787C>A			Somatic				C1orf177_ENST00000371273.3_Silent_p.V229V	p.V229V	NM_152607.2	NP_689820.2	WXS	Illumina GAIIx	Phase_I	Q3ZCV2	CA177_HUMAN			6	741	+			229					B7WPL2|Q8N7Y9	Silent	SNP	ENST00000371273.3	37	c.687C>A	CCDS44153.1																																																																																				0.587	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		20	67	1	0	5.03518e-11	1	5.76948e-11	20	67					A	55277787	C	A	55277787	2	1	31	1	0	0	0	0	0	0	0	1	2019	871	31	2		2	C1orf177	1	55277787	Silent	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	11539299	55277787	193972834	4	2998										
CD1D	912	broad.mit.edu	37	chr1	158152703	158152703	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	ggctgtcccgtggccccagtCctggccctggccgtctgctg	14	17	1	0			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:158152703C>A	ENST00000368171.3	+	5	1142	c.643C>A	c.(643-645)Cct>Act	p.P215T		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	215	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGGCCCCAGTCCTGGCCCTGG	0.592																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(643-645)Cct>Act		CD1d molecule							80	81	81					1																	158152703		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152703C>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.643C>A	1.37:g.158152703C>A	ENSP00000357153:p.Pro215Thr		Somatic					p.P215T	NM_001766.3	NP_001757.1	WXS	Illumina GAIIx	Phase_I	P15813	CD1D_HUMAN			5	1142	+	all_hematologic(112;0.0378)		215			Ig-like.		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.643C>A	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.868225	0.51588	.	.	ENSG00000158473	ENST00000368171	T	0.12984	2.63	5.18	2.16	0.27623	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);	0.137270	0.34110	N	0.004245	T	0.18676	0.0448	M	0.87097	2.86	0.09310	N	1	D	0.58268	0.982	P	0.60473	0.875	T	0.03555	-1.1025	10	0.59425	D	0.04	-11.0479	5.6194	0.17450	0.0:0.6424:0.1676:0.19	.	215	P15813	CD1D_HUMAN	T	215	ENSP00000357153:P215T	ENSP00000357153:P215T	P	+	1	0	CD1D	156419327	0.001000	0.12720	0.385000	0.26158	0.960000	0.62799	0.744000	0.26245	0.643000	0.30638	0.655000	0.94253	CCT		0.592	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		20	65	1	0	1.01871e-10	1	1.15524e-10	20	65					A	158152703	C	A	158152703	3	1	31	1	0	0	0	0	1	0	0	0	2979	855	30	2	657	2	CD1D	1	158152703	Missense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	102874916	158152703	91097918	5	2999										
OR10J5	127385	broad.mit.edu	37	chr1	159505384	159505384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	accagctgggcacatagtccCttgctcatgatgacagtgta	10	11	1	2	rs551006359	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:159505384C>T	ENST00000334857.2	-	1	458	c.414G>A	c.(412-414)aaG>aaA	p.K138K		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CACATAGTCCCTTGCTCATGA	0.502																																						ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(412-414)aaG>aaA		olfactory receptor, family 10, subfamily J, member 5							138	106	117					1																	159505384		2203	4300	6503	SO:0001819	synonymous_variant	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505384C>T		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.414G>A	1.37:g.159505384C>T			Somatic					p.K138K	NM_001004469.1	NP_001004469.1	WXS	Illumina GAIIx	Phase_I	Q8NHC4	O10J5_HUMAN			1	458	-	all_hematologic(112;0.0429)		138					B9EH35|Q6IFH2	Silent	SNP	ENST00000334857.2	37	c.414G>A	CCDS30910.1																																																																																				0.502	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		4	85	0	0	0	1	0	4	85					T	159505384	C	T	159505384	2	4	31	1	0	0	0	0	0	0	0	1	10921	680	24	3		3	OR10J5	1	159505384	Silent	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	1352681	159505384	89745237	6	3000										
CD34	947	broad.mit.edu	37	chr1	208070903	208070903	+	Frame_Shift_Del	DEL	A	A	-													0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	tttcacttctctgatgcctgAacatttgatttctgcctgta							TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:208070903delA	ENST00000310833.7	-	4	853	c.532delT	c.(532-534)tcafs	p.S178fs	CD34_ENST00000485761.1_5'UTR|CD34_ENST00000356522.4_Frame_Shift_Del_p.S178fs|CD34_ENST00000537704.1_Frame_Shift_Del_p.S43fs	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	178					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						CTGATGCCTGAACATTTGATT	0.418																																						ENST00000356522.4																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						c.(532-534)cafs		CD34 molecule							54	46	48					1																	208070903		2193	4284	6477	SO:0001589	frameshift_variant	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208070903delA	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.532delT	1.37:g.208070903delA	ENSP00000310036:p.Ser178fs		Somatic				CD34_ENST00000310833.7_Frame_Shift_Del_p.S178fs|CD34_ENST00000537704.1_Frame_Shift_Del_p.S43fs|CD34_ENST00000485761.1_5'UTR	p.S178fs	NM_001773.2	NP_001764.1	WXS	Illumina GAIIx	Phase_I	P28906	CD34_HUMAN			4	853	-			178					A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Frame_Shift_Del	DEL	ENST00000310833.7	37	c.532delT	CCDS31011.1																																																																																				0.418	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		2	4						2	4	---	---	---	---	-	208070903	A	-	208070903	7	5	31	1	0	1	0	1	0	0	0	0	3008	246	9	0	664	0	CD34	1	208070903	Frame_Shift_Del	DEL	A	TCGA-N8-A4PQ-01A-11D-A28R-08	48565519	208070903	41179718	7	3001										
MTR	4548	broad.mit.edu	37	chr1	237016332	237016332	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	aacttctgcagctctgtgaaGatctcatctggaataaagac	8	9	4	3			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:237016332G>T	ENST00000366577.5	+	18	2291	c.1897G>T	c.(1897-1899)Gat>Tat	p.D633Y	MTR_ENST00000535889.1_Missense_Mutation_p.D633Y	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	633					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)	GCTCTGTGAAGATCTCATCTG	0.438																																						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.(1897-1899)Gat>Tat		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						128	126	127					1																	237016332		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.chr1:237016332G>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.1897G>T	1.37:g.237016332G>T	ENSP00000355536:p.Asp633Tyr		Somatic				MTR_ENST00000535889.1_Missense_Mutation_p.D633Y	p.D633Y	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)	18	2291	+	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)	633					A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.1897G>T	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298221	0.81025	.	.	ENSG00000116984	ENST00000366577;ENST00000535889;ENST00000366576	D;D;D	0.88586	-2.4;-2.4;-2.4	5.43	5.43	0.79202	Dihydropteroate synthase-like (1);Pterin-binding (1);	0.046744	0.85682	D	0.000000	D	0.95389	0.8503	M	0.93978	3.48	0.47698	D	0.999496	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.964	D	0.95805	0.8836	10	0.87932	D	0	-22.7568	13.1191	0.59316	0.0826:0.0:0.9174:0.0	.	633;633	B7ZLW7;Q99707	.;METH_HUMAN	Y	633;633;187	ENSP00000355536:D633Y;ENSP00000441845:D633Y;ENSP00000355535:D187Y	ENSP00000355535:D187Y	D	+	1	0	MTR	235082955	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.431000	0.66507	2.830000	0.97506	0.655000	0.94253	GAT		0.438	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		14	46	1	0	0.000219431	1	0.000232091	14	46					T	237016332	G	T	237016332	3	4	31	1	0	0	0	0	1	0	0	0	9967	942	33	2	1967	2	MTR	1	237016332	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	28945429	237016332	12234289	8	3002										
FAM49A	81553	broad.mit.edu	37	chr2	16742751	16742751	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	ttgttgatgcggttgcgactGattgttcttctgtagtagct	12	6	2	2			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr2:16742751G>T	ENST00000381323.3	-	7	706	c.486C>A	c.(484-486)atC>atA	p.I162I	FAM49A_ENST00000355549.2_Silent_p.I162I|FAM49A_ENST00000406434.1_Silent_p.I162I	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	162						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GGTTGCGACTGATTGTTCTTC	0.493																																						ENST00000381323.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23						c.(484-486)atC>atA		family with sequence similarity 49, member A							149	128	135					2																	16742751		2203	4300	6503	SO:0001819	synonymous_variant	81553					intracellular		g.chr2:16742751G>T	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.486C>A	2.37:g.16742751G>T			Somatic				FAM49A_ENST00000406434.1_Silent_p.I162I|FAM49A_ENST00000355549.2_Silent_p.I162I	p.I162I	NM_030797.3	NP_110424.1	WXS	Illumina GAIIx	Phase_I	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)		7	706	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		162					B3KNZ1|Q53QW2	Silent	SNP	ENST00000381323.3	37	c.486C>A	CCDS1688.1																																																																																				0.493	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797		9	42	1	0	0.000978159	1	0.00100558	9	42					T	16742751	G	T	16742751	2	4	31	1	0	0	0	0	0	0	0	1	5583	1280	45	2		2	FAM49A	2	16742751	Silent	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08		16742751	226456622	9	3003										
RDH14	57665	broad.mit.edu	37	chr2	18736500	18736500	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	cttcactgatatcccagagtTttcttgcaacagattcatcc	5	12	3	3			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr2:18736500T>G	ENST00000381249.3	-	2	1075	c.968A>C	c.(967-969)aAa>aCa	p.K323T	RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1	Q9HBH5	RDH14_HUMAN	retinol dehydrogenase 14 (all-trans/9-cis/11-cis)	323					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)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)				Vitamin A(DB00162)	ATCCCAGAGTTTTCTTGCAAC	0.413																																						ENST00000381249.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(967-969)aAa>aCa		retinol dehydrogenase 14 (all-trans/9-cis/11-cis)							151	149	150					2																	18736500		2203	4300	6503	SO:0001583	missense	57665							g.chr2:18736500T>G	AF237952	CCDS1693.1	2p24.2	2011-09-14	2006-05-09		ENSG00000240857	ENSG00000240857	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19979	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 4"		"retinol dehydrogenase 14 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_020905		Approved	PAN2, SDR7C4		Q9HBH5	OTTHUMG00000090705	ENST00000381249.3:c.968A>C	2.37:g.18736500T>G	ENSP00000370648:p.Lys323Thr		Somatic				RDH14_ENST00000468071.1_5'UTR	p.K323T	NM_020905.3	NP_065956.1	WXS	Illumina GAIIx	Phase_I					2	1075	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)								Missense_Mutation	SNP	ENST00000381249.3	37	c.968A>C	CCDS1693.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.687200	0.68157	.	.	ENSG00000240857	ENST00000381249	T	0.63913	-0.07	5.82	5.82	0.92795	NAD(P)-binding domain (1);	.	.	.	.	T	0.76828	0.4042	M	0.82132	2.575	0.48135	D	0.999598	D	0.67145	0.996	P	0.57324	0.818	T	0.79472	-0.1789	9	0.52906	T	0.07	.	16.1742	0.81840	0.0:0.0:0.0:1.0	.	323	Q9HBH5	RDH14_HUMAN	T	323	ENSP00000370648:K323T	ENSP00000370648:K323T	K	-	2	0	RDH14	18599981	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.966000	0.56795	2.223000	0.72356	0.482000	0.46254	AAA		0.413	RDH14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207394.1			33	71	0	0	0	1	0	33	71					G	18736500	T	G	18736500	3	3	31	1	0	0	0	0	1	0	0	0	13208	1841	64	4	46	4	RDH14	2	18736500	Missense_Mutation	SNP	T	TCGA-N8-A4PQ-01A-11D-A28R-08	1993749	18736500	224462873	10	3004										
WDR43	23160	broad.mit.edu	37	chr2	29158461	29158461	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	cccctgcatactattattccGttgttacaagaggtaactga	7	10	0	2			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr2:29158461G>A	ENST00000407426.3	+	12	1568	c.1512G>A	c.(1510-1512)ccG>ccA	p.P504P		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	504						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					CTATTATTCCGTTGTTACAAG	0.323																																						ENST00000407426.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20						c.(1510-1512)ccG>ccA		WD repeat domain 43							109	100	103					2																	29158461		1835	4081	5916	SO:0001819	synonymous_variant	23160					nucleolus		g.chr2:29158461G>A	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.1512G>A	2.37:g.29158461G>A			Somatic					p.P504P	NM_015131.1	NP_055946.1	WXS	Illumina GAIIx	Phase_I	Q15061	WDR43_HUMAN			12	1568	+	Acute lymphoblastic leukemia(172;0.155)		504					Q15395|Q92577	Silent	SNP	ENST00000407426.3	37	c.1512G>A	CCDS46251.1	.	.	.	.	.	.	.	.	.	.	G	2.738	-0.262934	0.05754	.	.	ENSG00000163811	ENST00000446643	.	.	.	5.53	-1.65	0.08291	.	.	.	.	.	T	0.39462	0.1079	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30238	-0.9985	4	.	.	.	-13.307	1.2759	0.02030	0.4047:0.2509:0.2229:0.1215	.	.	.	.	H	56	.	.	R	+	2	0	WDR43	29011965	0.315000	0.24571	0.991000	0.47740	0.322000	0.28314	-0.247000	0.08866	-0.091000	0.12440	-0.340000	0.08031	CGT		0.323	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		12	31	0	0	0	1	0	12	31					A	29158461	G	A	29158461	2	1	31	1	0	0	0	0	0	0	0	1	17310	1132	40	1		1	WDR43	2	29158461	Silent	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	10421961	29158461	214040912	11	3005										
DYSF	8291	broad.mit.edu	37	chr2	71780304	71780304	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	ctccaccactcagtacagccGtgcagtctttgacggtgagg	11	13	2	2	rs150417363		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr2:71780304G>C	ENST00000258104.3	+	20	2193	c.1916G>C	c.(1915-1917)cGt>cCt	p.R639P	DYSF_ENST00000409366.1_Missense_Mutation_p.R640P|DYSF_ENST00000409744.1_Missense_Mutation_p.R626P|DYSF_ENST00000394120.2_Missense_Mutation_p.R640P|DYSF_ENST00000409762.1_Missense_Mutation_p.R656P|DYSF_ENST00000409651.1_Missense_Mutation_p.R671P|DYSF_ENST00000410041.1_Missense_Mutation_p.R657P|DYSF_ENST00000410020.3_Missense_Mutation_p.R657P|DYSF_ENST00000409582.3_Missense_Mutation_p.R656P|DYSF_ENST00000413539.2_Missense_Mutation_p.R670P|DYSF_ENST00000429174.2_Missense_Mutation_p.R639P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	639					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						CAGTACAGCCGTGCAGTCTTT	0.582																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(1915-1917)cGt>cCt		dysferlin							100	86	91					2																	71780304		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71780304G>C	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.1916G>C	2.37:g.71780304G>C	ENSP00000258104:p.Arg639Pro		Somatic				DYSF_ENST00000394120.2_Missense_Mutation_p.R640P|DYSF_ENST00000409366.1_Missense_Mutation_p.R640P|DYSF_ENST00000429174.2_Missense_Mutation_p.R639P|DYSF_ENST00000409744.1_Missense_Mutation_p.R626P|DYSF_ENST00000413539.2_Missense_Mutation_p.R670P|DYSF_ENST00000410020.3_Missense_Mutation_p.R657P|DYSF_ENST00000409762.1_Missense_Mutation_p.R656P|DYSF_ENST00000410041.1_Missense_Mutation_p.R657P|DYSF_ENST00000409582.3_Missense_Mutation_p.R656P|DYSF_ENST00000409651.1_Missense_Mutation_p.R671P	p.R639P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	WXS	Illumina GAIIx	Phase_I	O75923	DYSF_HUMAN			20	2193	+			639					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.1916G>C	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342047	0.81911	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83250	-1.69;-1.7;-1.7;-1.69;-1.7;-1.69;-1.69;-1.7;-1.69;-1.69;-1.69	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.85877	0.5799	L	0.28694	0.88	0.58432	D	0.999998	D;D;D;D;D;D;D;B;D;P;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.178;1.0;0.511;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;B;D;B;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.991;0.987;0.991;0.156;1.0;0.362;0.992;1.0;1.0;0.999	D	0.84504	0.0618	10	0.32370	T	0.25	-30.4078	16.4751	0.84130	0.0:0.0:1.0:0.0	.	671;657;640;626;657;626;656;625;670;656;639;625;640;639	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	P	670;656;656;639;639;671;640;626;640;657;657	ENSP00000407046:R670P;ENSP00000387137:R656P;ENSP00000386547:R656P;ENSP00000398305:R639P;ENSP00000258104:R639P;ENSP00000386683:R671P;ENSP00000377678:R640P;ENSP00000386285:R626P;ENSP00000386512:R640P;ENSP00000386881:R657P;ENSP00000386617:R657P	ENSP00000258104:R639P	R	+	2	0	DYSF	71633812	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	7.934000	0.87649	2.488000	0.83962	0.655000	0.94253	CGT		0.582	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		10	113	0	0	0	1	0	10	113					C	71780304	G	C	71780304	3	2	31	1	0	0	0	0	1	0	0	0	4861	1145	40	5	2186	5	DYSF	2	71780304	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	42621843	71780304	171419069	12	3006										
CNTN4	152330	broad.mit.edu	37	chr3	3076369	3076369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	acgaaatcacagataccactGctcagctctcctggagaccc	7	15	3	2			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr3:3076369G>A	ENST00000397461.1	+	16	2221	c.1837G>A	c.(1837-1839)Gct>Act	p.A613T	CNTN4_ENST00000427331.1_Missense_Mutation_p.A613T|CNTN4_ENST00000397459.2_Missense_Mutation_p.A285T|CNTN4_ENST00000448906.2_Missense_Mutation_p.A285T|CNTN4_ENST00000418658.1_Missense_Mutation_p.A613T|CNTN4_ENST00000358480.3_Missense_Mutation_p.A394T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	613	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGATACCACTGCTCAGCTCTC	0.552																																						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.(1837-1839)Gct>Act		contactin 4							100	82	88					3																	3076369		2203	4300	6503	SO:0001583	missense	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.chr3:3076369G>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.1837G>A	3.37:g.3076369G>A	ENSP00000380602:p.Ala613Thr		Somatic				CNTN4_ENST00000427331.1_Missense_Mutation_p.A613T|CNTN4_ENST00000418658.1_Missense_Mutation_p.A613T|CNTN4_ENST00000397459.2_Missense_Mutation_p.A285T|CNTN4_ENST00000448906.2_Missense_Mutation_p.A285T|CNTN4_ENST00000358480.3_Missense_Mutation_p.A394T	p.A613T	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)	16	2221	+		Ovarian(110;0.156)	613			Fibronectin type-III 1.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.1837G>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090610	0.94149	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49	4.27	4.27	0.50696	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76814	0.4040	M	0.90082	3.085	0.80722	D	1	D;P;D	0.69078	0.963;0.952;0.997	P;P;D	0.69479	0.835;0.869;0.964	T	0.83178	-0.0090	10	0.62326	D	0.03	.	17.0894	0.86618	0.0:0.0:1.0:0.0	.	612;613;613	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	T	613;613;613;394;285;285	ENSP00000396010:A613T;ENSP00000380602:A613T;ENSP00000413642:A613T;ENSP00000351267:A394T;ENSP00000380600:A285T;ENSP00000392077:A285T	ENSP00000351267:A394T	A	+	1	0	CNTN4	3051369	1.000000	0.71417	0.980000	0.43619	0.974000	0.67602	7.660000	0.83776	2.086000	0.62901	0.563000	0.77884	GCT		0.552	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			25	38	0	0	0	1	0	25	38					A	3076369	G	A	3076369	3	1	31	1	0	0	0	0	1	0	0	0	3645	1319	46	3	1891	3	CNTN4	3	3076369	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08		3076369	194946061	13	3007										
ZNF167	55888	broad.mit.edu	37	chr3	44611529	44611529	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	ggggtggttcctggggcagcAgagactggagatgtttgtga	19	5	0	3			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr3:44611529A>T	ENST00000273320.3	+	6	1356	c.927A>T	c.(925-927)gcA>gcT	p.A309A	RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Silent_p.A309A	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	309					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)										CTGGGGCAGCAGAGACTGGAG	0.438																																						ENST00000273320.3																			0											c.(925-927)gcA>gcT		zinc finger with KRAB and SCAN domains 7							117	125	122					3																	44611529		2203	4300	6503	SO:0001819	synonymous_variant	55888							g.chr3:44611529A>T	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.927A>T	3.37:g.44611529A>T			Somatic				ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Silent_p.A309A|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron	p.A309A	NM_018651.2	NP_061121.2	WXS	Illumina GAIIx	Phase_I					6	1356	+								A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Silent	SNP	ENST00000273320.3	37	c.927A>T	CCDS2715.1																																																																																				0.438	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		28	116	0	0	0	1	0	28	116					T	44611529	A	T	44611529	2	4	31	1	0	0	0	0	0	0	0	1	17756	175	7	4		4	ZNF167	3	44611529	Silent	SNP	A	TCGA-N8-A4PQ-01A-11D-A28R-08	41535160	44611529	153410901	14	3008										
CNTN3	5067	broad.mit.edu	37	chr3	74411041	74411041	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	ttttctggacatcaaaatacCtttcatgctcctgcacgctc	5	13	3	0			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr3:74411041C>T	ENST00000263665.6	-	10	1391	c.1364G>A	c.(1363-1365)aGa>aAa	p.R455K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	455	Ig-like C2-type 5.				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)		ATCAAAATACCTTTCATGCTC	0.448																																						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.e10+1		contactin 3 (plasmacytoma associated)							68	65	66					3																	74411041		2203	4300	6503	SO:0001630	splice_region_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74411041C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1364+1G>A	3.37:g.74411041C>T			Somatic					p.R455_splice	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)	10	1391	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	455			Ig-like C2-type 5.		B9EK50|Q9H039	Splice_Site	SNP	ENST00000263665.6	37	c.1364_splice	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135484	0.77662	.	.	ENSG00000113805	ENST00000263665	T	0.37752	1.18	5.41	5.41	0.78517	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.69823	2.125	0.80722	D	1	D	0.54207	0.965	D	0.63877	0.919	T	0.55866	-0.8073	9	.	.	.	.	17.3543	0.87331	0.0:1.0:0.0:0.0	.	455	Q9P232	CNTN3_HUMAN	K	455	ENSP00000263665:R455K	.	R	-	2	0	CNTN3	74493731	1.000000	0.71417	0.998000	0.56505	0.134000	0.20937	6.647000	0.74354	2.697000	0.92050	0.591000	0.81541	AGA		0.448	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	Missense_Mutation	27	21	0	0	0	1	0	27	21					T	74411041	C	T	74411041	5	4	31	1	0	0	0	0	0	0	1	0	3644	695	24	3	1774	3	CNTN3	3	74411041	Splice_Site	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	29799512	74411041	123611389	15	3009										
UGDH	7358	broad.mit.edu	37	chr4	39506922	39506922	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	tttgttccctaggtacttttGgatcatatatatgtagatgt	8	5	1	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr4:39506922G>C	ENST00000316423.6	-	9	1448	c.1106C>G	c.(1105-1107)cCa>cGa	p.P369R	UGDH_ENST00000506179.1_Missense_Mutation_p.P369R|UGDH_ENST00000501493.2_Missense_Mutation_p.P302R|UGDH_ENST00000507089.1_Missense_Mutation_p.P272R	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	369					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						AGGTACTTTTGGATCATATAT	0.348																																						ENST00000316423.6																			0				breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						c.(1105-1107)cCa>cGa		UDP-glucose 6-dehydrogenase	NADH(DB00157)						109	108	108					4																	39506922		2203	4300	6503	SO:0001583	missense	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39506922G>C	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"UDP-glucose dehydrogenase"			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.1106C>G	4.37:g.39506922G>C	ENSP00000319501:p.Pro369Arg		Somatic				UGDH_ENST00000507089.1_Missense_Mutation_p.P272R|UGDH_ENST00000506179.1_Missense_Mutation_p.P369R|UGDH_ENST00000501493.2_Missense_Mutation_p.P302R	p.P369R	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	WXS	Illumina GAIIx	Phase_I	O60701	UGDH_HUMAN			9	1448	-			369					B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	c.1106C>G	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717256	0.89205	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000507089	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	6.03	6.03	0.97812	UDP-glucose/GDP-mannose dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	H	0.97983	4.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98968	1.0800	10	0.87932	D	0	0.6395	19.5548	0.95338	0.0:0.0:1.0:0.0	.	302;369	B3KUU2;O60701	.;UGDH_HUMAN	R	369;302;369;272	ENSP00000319501:P369R;ENSP00000422909:P302R;ENSP00000421757:P369R;ENSP00000426560:P272R	ENSP00000319501:P369R	P	-	2	0	UGDH	39183317	1.000000	0.71417	0.967000	0.41034	0.991000	0.79684	9.128000	0.94424	2.854000	0.98071	0.655000	0.94253	CCA		0.348	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		11	37	0	0	0	1	0	11	37					C	39506922	G	C	39506922	3	2	31	1	0	0	0	0	1	0	0	0	16955	1348	47	5	394	5	UGDH	4	39506922	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08		39506922	151647354	16	3010										
GRXCR1	389207	broad.mit.edu	37	chr4	42895339	42895339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	gccacggaaagtccggtttcGgatcgcgtcctctcacagtg	12	13	1	0			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr4:42895339G>A	ENST00000399770.2	+	1	56	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	19					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						GTCCGGTTTCGGATCGCGTCC	0.512																																						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.(55-57)cGg>cAg		glutaredoxin, cysteine rich 1							112	120	117					4																	42895339		2020	4179	6199	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.chr4:42895339G>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.56G>A	4.37:g.42895339G>A	ENSP00000382670:p.Arg19Gln		Somatic					p.R19Q	NM_001080476.2	NP_001073945.1	WXS	Illumina GAIIx	Phase_I	A8MXD5	GRCR1_HUMAN			1	56	+			19						Missense_Mutation	SNP	ENST00000399770.2	37	c.56G>A	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940679	0.92526	.	.	ENSG00000215203	ENST00000399770	T	0.35048	1.33	5.63	5.63	0.86233	.	0.000000	0.85682	U	0.000000	T	0.57533	0.2060	L	0.55481	1.735	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.56013	-0.8049	10	0.56958	D	0.05	-26.429	18.6831	0.91554	0.0:0.0:1.0:0.0	.	19	A8MXD5	GRCR1_HUMAN	Q	19	ENSP00000382670:R19Q	ENSP00000382670:R19Q	R	+	2	0	GRXCR1	42590096	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	9.470000	0.97683	2.649000	0.89929	0.650000	0.86243	CGG		0.512	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		19	105	0	0	0	1	0	19	105					A	42895339	G	A	42895339	3	1	31	1	0	0	0	0	1	0	0	0	6821	1116	39	1	58	1	GRXCR1	4	42895339	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	3388417	42895339	148258937	17	3011										
KIAA1211	57482	broad.mit.edu	37	chr4	57193840	57193840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	cgactcggctcccccagcgcCgctggtaaaagaagtcacca	10	16	1	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr4:57193840C>T	ENST00000504228.1	+	9	3677	c.3572C>T	c.(3571-3573)cCg>cTg	p.P1191L	KIAA1211_ENST00000541073.1_Missense_Mutation_p.P1184L|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P1191L			Q6ZU35	K1211_HUMAN	KIAA1211	1191										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)					CCCCCAGCGCCGCTGGTAAAA	0.483																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(3571-3573)cCg>cTg		KIAA1211							93	97	95					4																	57193840		1821	4084	5905	SO:0001583	missense	57482							g.chr4:57193840C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3572C>T	4.37:g.57193840C>T	ENSP00000423366:p.Pro1191Leu		Somatic				KIAA1211_ENST00000541073.1_Missense_Mutation_p.P1184L|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P1191L	p.P1191L			WXS	Illumina GAIIx	Phase_I	Q6ZU35	K1211_HUMAN			9	3677	+	Glioma(25;0.08)|all_neural(26;0.101)		1191					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.3572C>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352556	0.61293	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.75154	-0.91;-0.91;-0.91	5.59	5.59	0.84812	.	.	.	.	.	D	0.83931	0.5361	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.63957	0.92;0.92	D	0.85029	0.0916	9	0.87932	D	0	-9.3173	19.5815	0.95469	0.0:1.0:0.0:0.0	.	1184;1191	F5H1N7;Q6ZU35	.;K1211_HUMAN	L	1191;1191;1184	ENSP00000264229:P1191L;ENSP00000423366:P1191L;ENSP00000444006:P1184L	ENSP00000264229:P1191L	P	+	2	0	KIAA1211	56888597	1.000000	0.71417	0.053000	0.19242	0.015000	0.08874	7.487000	0.81328	2.620000	0.88729	0.655000	0.94253	CCG		0.483	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		61	76	0	0	0	1	0	61	76					T	57193840	C	T	57193840	3	4	31	1	0	0	0	0	1	0	0	0	8224	652	23	1	3602	1	KIAA1211	4	57193840	Missense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	14298501	57193840	133960436	18	3012										
SRP72	6731	broad.mit.edu	37	chr4	57333819	57333820	+	Frame_Shift_Ins	INS	-	-	G													0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	agatggcgagcggcggcagcINSgggggggtgtcagtacctgc					rs17524437	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr4:57333819_57333820insG	ENST00000342756.5	+	1	739_740	c.18_19insG	c.(19-21)gggfs	p.G7fs	SRP72_ENST00000504757.1_Frame_Shift_Ins_p.G7fs|SRP72_ENST00000510663.1_Frame_Shift_Ins_p.G7fs	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	7					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GCGGCGGCAGCGGGGGGGTGTC	0.639																																						ENST00000342756.5																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22						c.(16-21)agggggfs		signal recognition particle 72kDa																																				SO:0001589	frameshift_variant	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57333819_57333820insG	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.25dupG	4.37:g.57333826_57333826dupG	ENSP00000342181:p.Gly7fs		Somatic				SRP72_ENST00000504757.1_Frame_Shift_Ins_p.RG6fs|SRP72_ENST00000510663.1_Frame_Shift_Ins_p.RG6fs	p.RG6fs	NM_006947.3	NP_008878.3	WXS	Illumina GAIIx	Phase_I	O76094	SRP72_HUMAN			1	739_740	+	Glioma(25;0.08)|all_neural(26;0.101)		6					G5E9Z8|Q7Z3C0	Frame_Shift_Ins	INS	ENST00000342756.5	37	c.18_19insG	CCDS3506.1																																																																																				0.639	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			10	21						10	21	---	---	---	---	G	57333820	-	G	57333819	7	5	31	1	0	1	1	0	0	0	0	0	15172	767	27	0	20	0	SRP72	4	57333819	Frame_Shift_Ins	INS	-	TCGA-N8-A4PQ-01A-11D-A28R-08	139979	57333819	133820457	19	3013										
ANXA10	11199	broad.mit.edu	37	chr4	169049237	169049237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	cattgattttcccaccaggtGcaaggaaccatcttcccagc	7	14	1	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr4:169049237G>A	ENST00000359299.3	+	2	207	c.21G>A	c.(19-21)gtG>gtA	p.V7V		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	7						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CCCACCAGGTGCAAGGAACCA	0.433																																						ENST00000359299.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16						c.(19-21)gtG>gtA		annexin A10							108	105	106					4																	169049237		2203	4300	6503	SO:0001819	synonymous_variant	11199						calcium ion binding|calcium-dependent phospholipid binding	g.chr4:169049237G>A	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"Annexins"	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.21G>A	4.37:g.169049237G>A			Somatic					p.V7V	NM_007193.4	NP_009124.2	WXS	Illumina GAIIx	Phase_I	Q9UJ72	ANX10_HUMAN		GBM - Glioblastoma multiforme(119;0.0325)	2	207	+		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	7					Q96IQ5|Q9UJV4	Silent	SNP	ENST00000359299.3	37	c.21G>A	CCDS34096.1																																																																																				0.433	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193		10	15	0	0	0	1	0	10	15					A	169049237	G	A	169049237	2	1	31	1	0	0	0	0	0	0	0	1	715	1306	46	3		3	ANXA10	4	169049237	Silent	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	111715418	169049237	22105039	20	3014										
TAS2R1	50834	broad.mit.edu	37	chr5	9630016	9630016	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	caagaaagaaggagatccagCggagccatttttctgtgctt	11	8	1	3			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr5:9630016C>T	ENST00000382492.2	-	1	447	c.129G>A	c.(127-129)ccG>ccA	p.P43P	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	43					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)			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						GGAGATCCAGCGGAGCCATTT	0.378																																						ENST00000382492.2																			0				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.(127-129)ccG>ccA		taste receptor, type 2, member 1							55	59	58					5																	9630016		2202	4300	6502	SO:0001819	synonymous_variant	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9630016C>T	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.129G>A	5.37:g.9630016C>T			Somatic				CTD-2001E22.1_ENST00000504182.2_RNA	p.P43P	NM_019599.2	NP_062545.1	WXS	Illumina GAIIx	Phase_I	Q9NYW7	TA2R1_HUMAN			1	447	-			43					Q646G8	Silent	SNP	ENST00000382492.2	37	c.129G>A	CCDS3876.1																																																																																				0.378	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			8	72	0	0	0	1	0	8	72					T	9630016	C	T	9630016	2	4	31	1	0	0	0	0	0	0	0	1	15580	755	27	1		1	TAS2R1	5	9630016	Silent	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08		9630016	171285244	21	3015										
CDH9	1007	broad.mit.edu	37	chr5	26886102	26886102	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	atctacaatggtgaaattcgGattgagagtaaattctggca	10	5	2	2			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr5:26886102G>C	ENST00000231021.4	-	10	1775	c.1603C>G	c.(1603-1605)Ccg>Gcg	p.P535A		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P535T(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTGAAATTCGGATTGAGAGTA	0.318																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			1	Substitution - Missense(1)	p.P535T(1)	lung(1)	breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1603-1605)Ccg>Gcg		cadherin 9, type 2 (T1-cadherin)							66	75	72					5																	26886102		2202	4300	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26886102G>C	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.1603C>G	5.37:g.26886102G>C	ENSP00000231021:p.Pro535Ala		Somatic					p.P535A	NM_016279.3	NP_057363.3	WXS	Illumina GAIIx	Phase_I	Q9ULB4	CADH9_HUMAN			10	1775	-			535			Cadherin 5.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1603C>G	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661890	0.47572	.	.	ENSG00000113100	ENST00000231021	T	0.50548	0.74	5.76	4.88	0.63580	Cadherin (4);Cadherin-like (1);	0.105582	0.64402	N	0.000004	T	0.45756	0.1358	L	0.55834	1.745	0.58432	D	0.999994	B;B	0.19935	0.01;0.04	B;B	0.26864	0.05;0.074	T	0.33240	-0.9876	9	.	.	.	.	15.3422	0.74306	0.0:0.1404:0.8596:0.0	.	128;535	B4DFP0;Q9ULB4	.;CADH9_HUMAN	A	535	ENSP00000231021:P535A	.	P	-	1	0	CDH9	26921859	1.000000	0.71417	0.833000	0.33012	0.922000	0.55478	6.548000	0.73896	1.406000	0.46857	0.467000	0.42956	CCG		0.318	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		4	94	0	0	0	1	0	4	94					C	26886102	G	C	26886102	3	2	31	1	0	0	0	0	1	0	0	0	3119	1174	41	2	778	2	CDH9	5	26886102	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	17256086	26886102	154029158	22	3016										
LNPEP	4012	broad.mit.edu	37	chr5	96360368	96360368	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	agcacttgccagctcagaggAtgtgcggaagctttactggt	13	9	1	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr5:96360368A>G	ENST00000231368.5	+	15	3397	c.2705A>G	c.(2704-2706)gAt>gGt	p.D902G	LNPEP_ENST00000395770.3_Missense_Mutation_p.D888G	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	902					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGCTCAGAGGATGTGCGGAAG	0.408																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(2704-2706)gAt>gGt		leucyl/cystinyl aminopeptidase							58	55	56					5																	96360368		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96360368A>G	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2705A>G	5.37:g.96360368A>G	ENSP00000231368:p.Asp902Gly		Somatic				LNPEP_ENST00000395770.3_Missense_Mutation_p.D888G	p.D902G	NM_005575.2	NP_005566.2	WXS	Illumina GAIIx	Phase_I	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	15	3397	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	902					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.2705A>G	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994848	0.54041	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.08370	3.1;3.1	5.96	5.96	0.96718	.	0.040620	0.85682	D	0.000000	T	0.23094	0.0558	M	0.62723	1.935	0.80722	D	1	B	0.32939	0.391	P	0.49012	0.598	T	0.00636	-1.1633	10	0.66056	D	0.02	.	16.1099	0.81255	1.0:0.0:0.0:0.0	.	902	Q9UIQ6	LCAP_HUMAN	G	902;888	ENSP00000231368:D902G;ENSP00000379117:D888G	ENSP00000231368:D902G	D	+	2	0	LNPEP	96386124	1.000000	0.71417	0.986000	0.45419	0.093000	0.18481	7.924000	0.87555	2.285000	0.76669	0.533000	0.62120	GAT		0.408	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		11	20	0	0	0	1	0	11	20					G	96360368	A	G	96360368	3	3	31	1	0	0	0	0	1	0	0	0	8873	333	12	4	2763	4	LNPEP	5	96360368	Missense_Mutation	SNP	A	TCGA-N8-A4PQ-01A-11D-A28R-08	69474266	96360368	84554892	23	3017										
MATR3	9782	broad.mit.edu	37	chr5	138643467	138643467	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	tttggtctgtctgctagagaCttagatgaactgagtcgtta	11	6	2	4			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr5:138643467C>G	ENST00000394805.3	+	2	698	c.363C>G	c.(361-363)gaC>gaG	p.D121E	MATR3_ENST00000502929.1_Missense_Mutation_p.D121E|MATR3_ENST00000510056.1_Missense_Mutation_p.D121E|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000394800.2_Missense_Mutation_p.D121E|MATR3_ENST00000509990.1_Missense_Mutation_p.D121E|MATR3_ENST00000361059.2_Missense_Mutation_p.D121E	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	121					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)			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)			CTGCTAGAGACTTAGATGAAC	0.463																																						ENST00000394800.2																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(361-363)gaC>gaG		matrin 3							63	59	60					5																	138643467		2203	4300	6503	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138643467C>G	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.363C>G	5.37:g.138643467C>G	ENSP00000378284:p.Asp121Glu		Somatic				MATR3_ENST00000361059.2_Missense_Mutation_p.D121E|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000510056.1_Missense_Mutation_p.D121E|MATR3_ENST00000509990.1_Missense_Mutation_p.D121E|MATR3_ENST00000394805.3_Missense_Mutation_p.D121E|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000502929.1_Missense_Mutation_p.D121E|MATR3_ENST00000504203.1_Intron	p.D121E			WXS	Illumina GAIIx	Phase_I	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	912	+			121					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.363C>G	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160557	0.57368	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000504045;ENST00000510056	D;D;D;D;D;D;D	0.90788	-2.63;-2.63;-2.61;-2.61;-2.63;-2.73;-2.71	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.91805	0.7407	L	0.32530	0.975	0.45490	D	0.998452	D;P;D	0.58970	0.984;0.841;0.984	D;P;D	0.67548	0.952;0.846;0.952	D	0.92198	0.5765	10	0.87932	D	0	-9.0925	13.1451	0.59456	0.0:0.9268:0.0:0.0732	.	121;121;121	D6REM6;A8MXP9;P43243	.;.;MATR3_HUMAN	E	121	ENSP00000423533:D121E;ENSP00000354346:D121E;ENSP00000422319:D121E;ENSP00000378279:D121E;ENSP00000378284:D121E;ENSP00000423290:D121E;ENSP00000426743:D121E	ENSP00000354346:D121E	D	+	3	2	MATR3	138671366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.250000	0.51445	2.706000	0.92434	0.585000	0.79938	GAC		0.463	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		9	52	0	0	0	1	0	9	52					G	138643467	C	G	138643467	3	3	31	1	0	0	0	0	1	0	0	0	9346	564	20	5	365	5	MATR3	5	138643467	Missense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	42283099	138643467	42271793	24	3018										
GABRA1	2554	broad.mit.edu	37	chr5	161318010	161318010	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	acagtgattctctcacaagtCtccttctggctcaacagaga	7	12	5	2			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr5:161318010C>G	ENST00000428797.2	+	9	1165	c.810C>G	c.(808-810)gtC>gtG	p.V270V	GABRA1_ENST00000444819.1_Silent_p.V270V|GABRA1_ENST00000420560.1_Silent_p.V270V|GABRA1_ENST00000437025.2_Silent_p.V270V|GABRA1_ENST00000023897.6_Silent_p.V270V|GABRA1_ENST00000393943.4_Silent_p.V270V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	270					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|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)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCTCACAAGTCTCCTTCTGGC	0.408																																						ENST00000428797.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(808-810)gtC>gtG		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						133	127	129					5																	161318010		2203	4300	6503	SO:0001819	synonymous_variant	2554				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.chr5:161318010C>G		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.810C>G	5.37:g.161318010C>G			Somatic				GABRA1_ENST00000023897.6_Silent_p.V270V|GABRA1_ENST00000437025.2_Silent_p.V270V|GABRA1_ENST00000420560.1_Silent_p.V270V|GABRA1_ENST00000444819.1_Silent_p.V270V|GABRA1_ENST00000393943.4_Silent_p.V270V	p.V270V	NM_001127643.1	NP_001121115.1	WXS	Illumina GAIIx	Phase_I	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	9	1165	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	270					D3DQK6|Q8N629	Silent	SNP	ENST00000428797.2	37	c.810C>G	CCDS4357.1																																																																																				0.408	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		61	10	0	0	0	1	0	61	10					G	161318010	C	G	161318010	2	3	31	1	0	0	0	0	0	0	0	1	6168	900	32	2		2	GABRA1	5	161318010	Silent	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	22674543	161318010	19597250	25	3019										
SERPINB9	5272	broad.mit.edu	37	chr6	2893765	2893765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	tctgcatcaattgagctaccCggcaacaactcttcaatttt	5	12	4	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr6:2893765C>T	ENST00000380698.4	-	5	536	c.447G>A	c.(445-447)ccG>ccA	p.P149P		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	149					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TTGAGCTACCCGGCAACAACT	0.393																																						ENST00000380698.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15						c.(445-447)ccG>ccA		serpin peptidase inhibitor, clade B (ovalbumin), member 9							114	111	112					6																	2893765		2203	4300	6503	SO:0001819	synonymous_variant	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2893765C>T	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"Serine (or cysteine) peptidase inhibitors"	8955	protein-coding gene	gene with protein product		601799	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.447G>A	6.37:g.2893765C>T			Somatic					p.P149P	NM_004155.5	NP_004146.1	WXS	Illumina GAIIx	Phase_I	P50453	SPB9_HUMAN			5	536	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	149					B2RBW3|Q5TD03	Silent	SNP	ENST00000380698.4	37	c.447G>A	CCDS4478.1																																																																																				0.393	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			39	13	0	0	0	1	0	39	13					T	2893765	C	T	2893765	2	4	31	1	0	0	0	0	0	0	0	1	14123	639	23	1		1	SERPINB9	6	2893765	Silent	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08		2893765	168221302	26	3020										
BTNL2	56244	broad.mit.edu	37	chr6	32362585	32362585	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	atgctgatggaacaagtgacGtccacagcggagatgtttgt	13	7	0	3			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr6:32362585G>T	ENST00000374993.1	-	6	1295	c.1296C>A	c.(1294-1296)gaC>gaA	p.D432E	BTNL2_ENST00000544175.1_Missense_Mutation_p.D155E|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000540315.1_Missense_Mutation_p.D222E|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000414363.1_Missense_Mutation_p.D222E|BTNL2_ENST00000454136.3_Missense_Mutation_p.D432E|BTNL2_ENST00000374995.3_Missense_Mutation_p.D338E	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	432						integral component of membrane (GO:0016021)		p.D432D(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						AACAAGTGACGTCCACAGCGG	0.498																																						ENST00000454136.3																			1	Substitution - coding silent(1)	p.D432D(1)	lung(1)	central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(1294-1296)gaC>gaA		butyrophilin-like 2 (MHC class II associated)							180	173	175					6																	32362585		2203	4300	6503	SO:0001583	missense	56244					integral to membrane		g.chr6:32362585G>T	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.1296C>A	6.37:g.32362585G>T	ENSP00000364132:p.Asp432Glu		Somatic				BTNL2_ENST00000374993.1_Missense_Mutation_p.D432E|BTNL2_ENST00000414363.1_Missense_Mutation_p.D222E|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000544175.1_Missense_Mutation_p.D155E|BTNL2_ENST00000540315.1_Missense_Mutation_p.D222E|BTNL2_ENST00000374995.3_Missense_Mutation_p.D338E	p.D432E			WXS	Illumina GAIIx	Phase_I	Q9UIR0	BTNL2_HUMAN			6	1300	-			432					A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.1296C>A		.	.	.	.	.	.	.	.	.	.	g	13.28	2.190378	0.38707	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000414363;ENST00000374993;ENST00000540315;ENST00000544175	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84	4.93	-7.83	0.01201	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.417329	0.20501	N	0.091095	T	0.34193	0.0889	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.31752	0.338;0.327	B;B	0.37650	0.182;0.255	T	0.48210	-0.9055	10	0.72032	D	0.01	.	9.2494	0.37547	0.2891:0.1376:0.5734:0.0	.	222;432	Q9UIR0-4;Q9UIR0	.;BTNL2_HUMAN	E	432;338;222;432;222;155	ENSP00000364134:D338E;ENSP00000390512:D222E;ENSP00000364132:D432E;ENSP00000444714:D222E;ENSP00000443364:D155E	ENSP00000364132:D432E	D	-	3	2	BTNL2	32470563	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-0.547000	0.06055	-1.543000	0.01723	-0.357000	0.07601	GAC		0.498	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		14	78	1	0	7.93312e-07	1	8.81458e-07	14	78					T	32362585	G	T	32362585	3	4	31	1	0	0	0	0	1	0	0	0	1567	1136	40	5	75	5	BTNL2	6	32362585	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	29468820	32362585	138752482	27	3021										
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	13	13	0	0	rs575896136	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RP1-244F24.1_ENST00000606796.1_RNA	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0	5008	,	,		7675	0.002		0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G			Somatic				RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q	p.Q65Q	NM_001024630.3	NP_001019801.3	WXS	Illumina GAIIx	Phase_I	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	36	0	0	0	1	0	3	36					G	45390466	A	G	45390466	2	3	31	1	0	0	0	0	0	0	0	1	13763	40	2	4		4	RUNX2	6	45390466	Silent	SNP	A	TCGA-N8-A4PQ-01A-11D-A28R-08	13027881	45390466	125724601	28	3022										
C6orf138	442213	broad.mit.edu	37	chr6	47847228	47847228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	tccattcattataatgttcaCggaggaagtgctgaatgaag	10	6	2	2	rs369189426		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr6:47847228C>T	ENST00000339488.4	-	3	1385	c.1352G>A	c.(1351-1353)cGt>cAt	p.R451H		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	451						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										ATAATGTTCACGGAGGAAGTG	0.448																																						ENST00000339488.4																			0											c.(1351-1353)cGt>cAt		patched domain containing 4		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	131	118	122		1352	4.8	0.9	6		122	0,8600		0,0,4300	no	missense	C6orf138	NM_001013732.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	451/847	47847228	1,13005	2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847228C>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.1352G>A	6.37:g.47847228C>T	ENSP00000341914:p.Arg451His		Somatic					p.R451H	NM_001013732.3	NP_001013754.3	WXS	Illumina GAIIx	Phase_I	Q6ZW05	CF138_HUMAN			3	1385	-			451					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.1352G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488849	0.44249	2.27E-4	0.0	ENSG00000244694	ENST00000339488	D	0.86164	-2.08	5.63	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.79167	0.4400	M	0.65498	2.005	0.80722	D	1	P	0.45986	0.87	B	0.36335	0.222	T	0.82778	-0.0289	10	0.72032	D	0.01	.	14.3884	0.66961	0.0:0.9293:0.0:0.0707	.	451	Q6ZW05	CF138_HUMAN	H	451	ENSP00000341914:R451H	ENSP00000341914:R451H	R	-	2	0	C6orf138	47955187	1.000000	0.71417	0.949000	0.38748	0.990000	0.78478	4.678000	0.61641	1.400000	0.46741	0.650000	0.86243	CGT		0.448	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		12	30	0	0	0	1	0	12	30					T	47847228	C	T	47847228	3	4	31	1	0	0	0	0	1	0	0	0	2334	536	19	1	1192	1	C6orf138	6	47847228	Missense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	2456762	47847228	123267839	29	3023										
HIVEP2	3097	broad.mit.edu	37	chr6	143091566	143091566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	gagaaagcattcgcttgctaCctcccagggtggccacgctg	12	13	0	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr6:143091566C>T	ENST00000367604.1	-	4	4949	c.4310G>A	c.(4309-4311)gGt>gAt	p.G1437D	HIVEP2_ENST00000367603.2_Missense_Mutation_p.G1437D|HIVEP2_ENST00000012134.2_Missense_Mutation_p.G1437D			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1437					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)		TCGCTTGCTACCTCCCAGGGT	0.512																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(4309-4311)gGt>gAt		human immunodeficiency virus type I enhancer binding protein 2							101	102	101					6																	143091566		1975	4172	6147	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143091566C>T	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.4310G>A	6.37:g.143091566C>T	ENSP00000356576:p.Gly1437Asp		Somatic				HIVEP2_ENST00000367604.1_Missense_Mutation_p.G1437D|HIVEP2_ENST00000012134.2_Missense_Mutation_p.G1437D	p.G1437D	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	5052	-			1437					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.4310G>A	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498157	0.64186	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.04970	3.52;3.52;3.52	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.20536	0.0494	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.00470	-1.1720	10	0.87932	D	0	-17.5026	20.0826	0.97783	0.0:1.0:0.0:0.0	.	1437	P31629	ZEP2_HUMAN	D	1437	ENSP00000356576:G1437D;ENSP00000356575:G1437D;ENSP00000012134:G1437D	ENSP00000012134:G1437D	G	-	2	0	HIVEP2	143133259	0.999000	0.42202	0.979000	0.43373	0.993000	0.82548	3.939000	0.56591	2.746000	0.94184	0.655000	0.94253	GGT		0.512	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			26	33	0	0	0	1	0	26	33					T	143091566	C	T	143091566	3	4	31	1	0	0	0	0	1	0	0	0	7196	507	18	3	3054	3	HIVEP2	6	143091566	Missense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	95244338	143091566	28023501	30	3024										
USP42	84132	broad.mit.edu	37	chr7	6175578	6175578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	atgtttgtcatcaatgagatGcggcgtaagtattaactatt	9	5	2	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr7:6175578G>A	ENST00000306177.5	+	4	707	c.549G>A	c.(547-549)atG>atA	p.M183I		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	183	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)		TCAATGAGATGCGGCGTAAGT	0.348																																						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.(547-549)atG>atA		ubiquitin specific peptidase 42							115	102	106					7																	6175578		1848	4093	5941	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6175578G>A	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.549G>A	7.37:g.6175578G>A	ENSP00000301962:p.Met183Ile		Somatic					p.M183I	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)	4	707	+		Ovarian(82;0.0423)	183					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.549G>A	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948670	0.53186	.	.	ENSG00000106346	ENST00000306177;ENST00000465073;ENST00000426246	T;T;T	0.25579	1.79;1.79;1.79	5.19	3.26	0.37387	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.082650	0.52532	D	0.000062	T	0.12902	0.0313	N	0.03930	-0.32	0.34585	D	0.714837	B;B;B	0.33777	0.371;0.425;0.425	B;B;B	0.40256	0.217;0.324;0.324	T	0.09907	-1.0653	10	0.62326	D	0.03	.	7.2796	0.26304	0.0:0.2533:0.4817:0.265	.	183;183;183	Q9H9J4-2;Q9H9J4;A4D2N6	.;UBP42_HUMAN;.	I	183;116;29	ENSP00000301962:M183I;ENSP00000430568:M116I;ENSP00000408217:M29I	ENSP00000301962:M183I	M	+	3	0	USP42	6142104	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.781000	0.26774	2.578000	0.87016	0.467000	0.42956	ATG		0.348	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		8	12	0	0	0	1	0	8	12					A	6175578	G	A	6175578	3	1	31	1	0	0	0	0	1	0	0	0	17088	1319	46	3	559	3	USP42	7	6175578	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08		6175578	152963085	31	3025										
KDELR2	11014	broad.mit.edu	37	chr7	6509337	6509337	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	atcgtaggttgccttaaattTcaggtagatcaggtacactg	10	7	2	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr7:6509337T>G	ENST00000258739.4	-	3	425	c.241A>C	c.(241-243)Aaa>Caa	p.K81Q	KDELR2_ENST00000490996.1_Missense_Mutation_p.K81Q|KDELR2_ENST00000463747.1_Intron|DAGLB_ENST00000436575.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	81					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GCCTTAAATTTCAGGTAGATC	0.443																																						ENST00000258739.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(241-243)Aaa>Caa		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2							94	89	91					7																	6509337		2203	4300	6503	SO:0001583	missense	0				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity	g.chr7:6509337T>G	X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.241A>C	7.37:g.6509337T>G	ENSP00000258739:p.Lys81Gln		Somatic				KDELR2_ENST00000490996.1_Missense_Mutation_p.K81Q|DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron	p.K81Q	NM_006854.3	NP_006845.1	WXS	Illumina GAIIx	Phase_I	P33947	ERD22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	425	-		Ovarian(82;0.0776)	81					A4D2P4|Q6IPC5|Q96E30	Missense_Mutation	SNP	ENST00000258739.4	37	c.241A>C	CCDS5351.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.028109	0.93518	.	.	ENSG00000136240	ENST00000258739;ENST00000490996	T	0.50001	0.76	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.73249	0.3563	M	0.90252	3.1	0.80722	D	1	D;P	0.61697	0.99;0.828	D;P	0.67548	0.952;0.58	T	0.77480	-0.2572	10	0.45353	T	0.12	-15.9206	16.1331	0.81458	0.0:0.0:0.0:1.0	.	81;81	P33947-2;P33947	.;ERD22_HUMAN	Q	81	ENSP00000258739:K81Q	ENSP00000258739:K81Q	K	-	1	0	KDELR2	6475862	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.950000	0.87804	2.268000	0.75426	0.455000	0.32223	AAA		0.443	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059424.2			21	66	0	0	0	1	0	21	66					G	6509337	T	G	6509337	3	3	31	1	0	0	0	0	1	0	0	0	8129	1792	62	4	584	4	KDELR2	7	6509337	Missense_Mutation	SNP	T	TCGA-N8-A4PQ-01A-11D-A28R-08	333759	6509337	152629326	32	3026										
FZD1	8321	broad.mit.edu	37	chr7	90895680	90895680	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	ggcttcgtgctggcgcccctCttcgtgtacctgtttatcgg	12	13	1	0			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr7:90895680C>G	ENST00000287934.2	+	1	1898	c.1485C>G	c.(1483-1485)ctC>ctG	p.L495L		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	495					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGGCGCCCCTCTTCGTGTACC	0.622																																						ENST00000287934.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1483-1485)ctC>ctG		frizzled family receptor 1							182	162	168					7																	90895680		2203	4300	6503	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895680C>G	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1485C>G	7.37:g.90895680C>G			Somatic					p.L495L	NM_003505.1	NP_003496.1	WXS	Illumina GAIIx	Phase_I	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1898	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		495					A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.1485C>G	CCDS5620.1																																																																																				0.622	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		74	100	0	0	0	1	0	74	100					G	90895680	C	G	90895680	2	3	31	1	0	0	0	0	0	0	0	1	6136	900	32	2		2	FZD1	7	90895680	Silent	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	84386343	90895680	68242983	33	3027										
CPA4	51200	broad.mit.edu	37	chr7	129950692	129950692	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	cccacgccaattcggaagtgGaggtgaaatcagtggtagat	13	8	1	2			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr7:129950692G>C	ENST00000222482.4	+	9	887	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	CPA4_ENST00000493259.1_Missense_Mutation_p.E183Q|CPA4_ENST00000445470.2_Missense_Mutation_p.E254Q	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	287					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TTCGGAAGTGGAGGTGAAATC	0.493																																						ENST00000222482.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(859-861)Gag>Cag		carboxypeptidase A4							115	109	111					7																	129950692		2203	4300	6503	SO:0001583	missense	51200				histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129950692G>C	AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"carboxypeptidase A3"	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.859G>C	7.37:g.129950692G>C	ENSP00000222482:p.Glu287Gln		Somatic				CPA4_ENST00000493259.1_Missense_Mutation_p.E183Q|CPA4_ENST00000445470.2_Missense_Mutation_p.E254Q	p.E287Q	NM_016352.3	NP_057436.2	WXS	Illumina GAIIx	Phase_I	Q9UI42	CBPA4_HUMAN			9	887	+	Melanoma(18;0.0435)		287					B7Z576|Q86UY9	Missense_Mutation	SNP	ENST00000222482.4	37	c.859G>C	CCDS5818.1	.	.	.	.	.	.	.	.	.	.	G	34	5.365207	0.95877	.	.	ENSG00000128510	ENST00000445470;ENST00000222482;ENST00000538687;ENST00000493259	T;T;T	0.20069	2.1;2.1;2.1	6.07	6.07	0.98685	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	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	T	0.78425	-0.2209	10	0.87932	D	0	.	19.6321	0.95713	0.0:0.0:1.0:0.0	.	254;287	B7Z576;Q9UI42	.;CBPA4_HUMAN	Q	254;287;92;183	ENSP00000412947:E254Q;ENSP00000222482:E287Q;ENSP00000419660:E183Q	ENSP00000222482:E287Q	E	+	1	0	CPA4	129737928	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.525000	0.98039	2.884000	0.98904	0.655000	0.94253	GAG		0.493	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		26	71	0	0	0	1	0	26	71					C	129950692	G	C	129950692	3	2	31	1	0	0	0	0	1	0	0	0	3794	1175	41	2	893	2	CPA4	7	129950692	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	39055012	129950692	29187971	34	3028										
TRHR	7201	broad.mit.edu	37	chr8	110131681	110131681	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	gaggtatcctttagccaaagTtgattcatgaattagaagaa	9	5	1	4			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr8:110131681T>A	ENST00000518632.1	+	3	1545	c.1194T>A	c.(1192-1194)agT>agA	p.S398R	TRHR_ENST00000311762.2_Missense_Mutation_p.S398R			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	398					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTAGCCAAAGTTGATTCATGA	0.403																																						ENST00000518632.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(1192-1194)agT>agA		thyrotropin-releasing hormone receptor							53	54	54					8																	110131681		2203	4299	6502	SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110131681T>A		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.1194T>A	8.37:g.110131681T>A	ENSP00000430711:p.Ser398Arg		Somatic				TRHR_ENST00000311762.2_Missense_Mutation_p.S398R	p.S398R			WXS	Illumina GAIIx	Phase_I	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		3	1545	+			398					Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.1194T>A	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.648031	0.47258	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.66460	-0.21;-0.21	5.56	-2.17	0.07059	.	0.543305	0.21464	N	0.074109	T	0.49609	0.1567	L	0.29908	0.895	0.25695	N	0.985646	B	0.19583	0.037	B	0.20384	0.029	T	0.44922	-0.9296	10	0.54805	T	0.06	.	10.8084	0.46531	0.0:0.5945:0.0:0.4055	.	398	P34981	TRFR_HUMAN	R	398	ENSP00000430711:S398R;ENSP00000309818:S398R	ENSP00000309818:S398R	S	+	3	2	TRHR	110200857	0.964000	0.33143	0.991000	0.47740	0.960000	0.62799	0.051000	0.14141	-0.276000	0.09206	-0.334000	0.08254	AGT		0.403	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			12	80	0	0	0	1	0	12	80					A	110131681	T	A	110131681	3	1	31	1	0	0	0	0	1	0	0	0	16495	1722	60	4	1200	4	TRHR	8	110131681	Missense_Mutation	SNP	T	TCGA-N8-A4PQ-01A-11D-A28R-08		110131681	36232341	35	3029										
CYP11B2	1585	broad.mit.edu	37	chr8	143996607	143996607	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	aacctctgcacggccttgggCgacagcacatctgggttcag	12	13	3	0			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr8:143996607C>A	ENST00000323110.2	-	3	452	c.450G>T	c.(448-450)tcG>tcT	p.S150S		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	150					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)	CGGCCTTGGGCGACAGCACAT	0.637									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.(448-450)tcG>tcT		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)						61	51	54					8																	143996607		2203	4300	6503	SO:0001819	synonymous_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.chr8:143996607C>A	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.450G>T	8.37:g.143996607C>A			Somatic					p.S150S	NM_000498.3	NP_000489.3	WXS	Illumina GAIIx	Phase_I	P19099	C11B2_HUMAN			3	452	-	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)		150					B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	c.450G>T	CCDS6393.1																																																																																				0.637	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			7	71	1	0	8.12818e-05	1	8.68059e-05	7	71					A	143996607	C	A	143996607	2	1	31	1	0	0	0	0	0	0	0	1	4148	755	27	5		5	CYP11B2	8	143996607	Silent	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	33864926	143996607	2367415	36	3030										
PTPRD	5789	broad.mit.edu	37	chr9	8331734	8331734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	cttactgttcgggactggccGtcctttagaaggaaagccac	11	11	0	1	rs143526425	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr9:8331734G>A	ENST00000381196.4	-	41	5925	c.5382C>T	c.(5380-5382)gaC>gaT	p.D1794D	PTPRD_ENST00000537002.1_Silent_p.D1384D|PTPRD_ENST00000360074.4_Silent_p.D1781D|PTPRD_ENST00000358503.5_Silent_p.D1772D|PTPRD_ENST00000355233.5_Silent_p.D1388D|PTPRD_ENST00000486161.1_Silent_p.D1387D|PTPRD_ENST00000397617.3_Silent_p.D1387D|PTPRD_ENST00000540109.1_Silent_p.D1794D|PTPRD_ENST00000356435.5_Silent_p.D1794D|PTPRD_ENST00000397606.3_Silent_p.D1387D|PTPRD_ENST00000397611.3_Silent_p.D1384D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1794	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGGACTGGCCGTCCTTTAGAA	0.512										TSP Lung(15;0.13)			G|||	4	0.000798722	0.003	0	5008	,	,		16318	0		0	False		,,,				2504	0					ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(5380-5382)gaC>gaT		protein tyrosine phosphatase, receptor type, D		G	,,,,,	10,4396	16.8+/-37.8	0,10,2193	70	68	69		4152,4161,5382,4161,4164,4134	1.5	1	9	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRD	NM_001040712.2,NM_001171025.1,NM_002839.3,NM_130391.3,NM_130392.3,NM_130393.3	,,,,,	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	,,,,,	1384/1503,1387/1506,1794/1913,1387/1506,1388/1507,1378/1497	8331734	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8331734G>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.5382C>T	9.37:g.8331734G>A		TSP Lung(15;0.13)	Somatic				PTPRD_ENST00000355233.5_Silent_p.D1388D|PTPRD_ENST00000397606.3_Silent_p.D1387D|PTPRD_ENST00000537002.1_Silent_p.D1384D|PTPRD_ENST00000397611.3_Silent_p.D1384D|PTPRD_ENST00000358503.5_Silent_p.D1772D|PTPRD_ENST00000540109.1_Silent_p.D1794D|PTPRD_ENST00000360074.4_Silent_p.D1781D|PTPRD_ENST00000397617.3_Silent_p.D1387D|PTPRD_ENST00000486161.1_Silent_p.D1387D|PTPRD_ENST00000356435.5_Silent_p.D1794D	p.D1794D	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)	41	5925	-		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)	1794			Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.5382C>T	CCDS43786.1																																																																																				0.512	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			13	32	0	0	0	1	0	13	32					A	8331734	G	A	8331734	2	1	31	1	0	0	0	0	0	0	0	1	12814	1136	40	1		1	PTPRD	9	8331734	Silent	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08		8331734	132881697	37	3031										
KIAA1045	23349	broad.mit.edu	37	chr9	34978096	34978096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	agcgcagccattcacctgaaGcccccaggatagcatggagc	11	14	1	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr9:34978096G>A	ENST00000242315.3	+	8	1273	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Silent_p.K397K	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	397							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)			TTCACCTGAAGCCCCCAGGAT	0.557																																						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.(1189-1191)aaG>aaA		KIAA1045							98	101	100					9																	34978096		2036	4174	6210	SO:0001819	synonymous_variant	23349						calcium ion binding	g.chr9:34978096G>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.1191G>A	9.37:g.34978096G>A			Somatic				KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Silent_p.K397K	p.K397K	NM_015297.1	NP_056112.1	WXS	Illumina GAIIx	Phase_I	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		8	1273	+			397					B7Z253|Q58FE9|Q5T662	Silent	SNP	ENST00000242315.3	37	c.1191G>A	CCDS43796.1																																																																																				0.557	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		14	78	0	0	0	1	0	14	78					A	34978096	G	A	34978096	2	1	31	1	0	0	0	0	0	0	0	1	8216	962	34	3		3	KIAA1045	9	34978096	Silent	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	26646362	34978096	106235335	38	3032										
LARP4B	23185	broad.mit.edu	37	chr10	909780	909780	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	tcctgcgggtctggcaatgcGgcattctcatggccctggtc	13	13	2	0			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr10:909780G>A	ENST00000316157.3	-	4	373	c.333C>T	c.(331-333)gcC>gcT	p.A111A		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	111					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						CTGGCAATGCGGCATTCTCAT	0.507																																						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.(331-333)gcC>gcT		La ribonucleoprotein domain family, member 4B							99	96	97					10																	909780		2203	4300	6503	SO:0001819	synonymous_variant	23185						nucleotide binding|RNA binding	g.chr10:909780G>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.333C>T	10.37:g.909780G>A			Somatic					p.A111A	NM_015155.1	NP_055970.1	WXS	Illumina GAIIx	Phase_I	Q92615	LAR4B_HUMAN			4	373	-			111					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Silent	SNP	ENST00000316157.3	37	c.333C>T	CCDS31131.1																																																																																				0.507	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		49	48	0	0	0	1	0	49	48					A	909780	G	A	909780	2	1	31	1	0	0	0	0	0	0	0	1	8640	1103	39	1		1	LARP4B	10	909780	Silent	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08		909780	134624967	39	3033										
AKR1E2	83592	broad.mit.edu	37	chr10	4877922	4877922	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	actttccttctgcctctcacAtcctcgagtgcaggacttgc	7	15	2	0			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr10:4877922A>T	ENST00000298375.7	+	4	451	c.380A>T	c.(379-381)cAt>cTt	p.H127L	AKR1E2_ENST00000532248.1_Missense_Mutation_p.H127L|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Missense_Mutation_p.H127L|AKR1E2_ENST00000334019.4_Missense_Mutation_p.H127L	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	127						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TGCCTCTCACATCCTCGAGTG	0.512																																					NSCLC(43;343 1097 20371 28813 45509)	ENST00000298375.7																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						c.(379-381)cAt>cTt		aldo-keto reductase family 1, member E2							118	90	99					10																	4877922		2203	4300	6503	SO:0001583	missense	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4877922A>T	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"Aldo-keto reductases"	23437	protein-coding gene	gene with protein product			"aldo-keto reductase family 1, member C-like 2"	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.380A>T	10.37:g.4877922A>T	ENSP00000298375:p.His127Leu		Somatic				AKR1E2_ENST00000345253.5_Missense_Mutation_p.H127L|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000532248.1_Missense_Mutation_p.H127L|AKR1E2_ENST00000334019.4_Missense_Mutation_p.H127L	p.H127L	NM_001040177.1	NP_001035267.1	WXS	Illumina GAIIx	Phase_I	Q96JD6	AKCL2_HUMAN			4	451	+			127					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Missense_Mutation	SNP	ENST00000298375.7	37	c.380A>T	CCDS31134.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542749	0.45280	.	.	ENSG00000165568	ENST00000462718;ENST00000533295;ENST00000298375;ENST00000532248;ENST00000334019;ENST00000345253	T;T;T;T;T	0.30182	2.13;1.54;1.83;1.93;2.3	4.12	4.12	0.48240	NADP-dependent oxidoreductase domain (3);	2.153450	0.02304	N	0.071467	T	0.30978	0.0782	N	0.02539	-0.55	0.30370	N	0.782996	D;B;B;B;B	0.89917	1.0;0.056;0.056;0.069;0.056	D;B;B;B;B	0.97110	1.0;0.021;0.021;0.036;0.021	T	0.51268	-0.8727	10	0.13470	T	0.59	.	9.7991	0.40753	1.0:0.0:0.0:0.0	.	88;127;127;127;127	B7Z7K2;Q96JD6-5;Q96JD6-2;Q96JD6;Q96JD6-3	.;.;.;AKCL2_HUMAN;.	L	23;131;127;127;127;127	ENSP00000435436:H131L;ENSP00000298375:H127L;ENSP00000432947:H127L;ENSP00000335034:H127L;ENSP00000335603:H127L	ENSP00000298375:H127L	H	+	2	0	AKR1E2	4867922	1.000000	0.71417	0.342000	0.25602	0.032000	0.12392	4.487000	0.60293	2.081000	0.62600	0.459000	0.35465	CAT		0.512	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436		4	55	0	0	0	1	0	4	55					T	4877922	A	T	4877922	3	4	31	1	0	0	0	0	1	0	0	0	474	217	8	4	394	4	AKR1E2	10	4877922	Missense_Mutation	SNP	A	TCGA-N8-A4PQ-01A-11D-A28R-08	3968142	4877922	130656825	40	3034										
MARCH8	220972	broad.mit.edu	37	chr10	45954693	45954693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	tgatcttcctgcgctcgctgGacgtcatctgcaacttctcc	8	15	4	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr10:45954693G>A	ENST00000319836.3	-	6	1195	c.446C>T	c.(445-447)tCc>tTc	p.S149F	MARCH8_ENST00000395771.3_Missense_Mutation_p.S149F|MARCH8_ENST00000395769.2_Missense_Mutation_p.S149F|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000453424.2_Missense_Mutation_p.S431F	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	149					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						GCGCTCGCTGGACGTCATCTG	0.532																																					NSCLC(102;658 1594 2173 16344 34808)	ENST00000453424.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						c.(1291-1293)tCc>tTc		membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase							184	144	158					10																	45954693		2203	4300	6503	SO:0001583	missense	220972					cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr10:45954693G>A	AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	23356	protein-coding gene	gene with protein product		613335	"c-mir, cellular modulator of immune recognition", "membrane-associated ring finger (C3HC4) 8"	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.446C>T	10.37:g.45954693G>A	ENSP00000317087:p.Ser149Phe		Somatic				MARCH8_ENST00000395769.2_Missense_Mutation_p.S149F|MARCH8_ENST00000319836.3_Missense_Mutation_p.S149F|MARCH8_ENST00000395771.3_Missense_Mutation_p.S149F|MARCH8_ENST00000476962.1_5'UTR	p.S431F			WXS	Illumina GAIIx	Phase_I	Q5T0T0	MARH8_HUMAN			7	1553	-			149					B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	c.1292C>T	CCDS7213.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503913	0.44558	.	.	ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769	T;T;T	0.12255	2.7;2.7;2.7	5.9	2.96	0.34315	.	0.555807	0.21103	N	0.080128	T	0.11922	0.0290	L	0.32530	0.975	0.26011	N	0.981993	B;B	0.33073	0.396;0.239	B;B	0.35859	0.212;0.212	T	0.12863	-1.0531	10	0.44086	T	0.13	-12.9337	10.9602	0.47381	0.0:0.2633:0.6001:0.1366	.	149;313	Q5T0T0;Q5JQ16	MARH8_HUMAN;.	F	149	ENSP00000379118:S149F;ENSP00000317087:S149F;ENSP00000379116:S149F	ENSP00000317087:S149F	S	-	2	0	MARCH8	45274699	1.000000	0.71417	0.178000	0.23040	0.543000	0.35085	4.881000	0.63114	0.367000	0.24454	0.655000	0.94253	TCC		0.532	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		17	96	0	0	0	1	0	17	96					A	45954693	G	A	45954693	3	1	31	1	0	0	0	0	1	0	0	0	9316	1174	41	3	437	3	MARCH8	10	45954693	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	41076771	45954693	89580054	41	3035										
SYT15	83849	broad.mit.edu	37	chr10	46964009	46964009	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	tggttcatcagagacactttGacaaacacacctagggaacg	9	10	2	2			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr10:46964009G>C	ENST00000374321.4	-	7	1020	c.954C>G	c.(952-954)gtC>gtG	p.V318V	SYT15_ENST00000449358.2_5'Flank|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Silent_p.V318V|SYT15_ENST00000374323.4_Silent_p.V371V|SYT15_ENST00000374325.3_Silent_p.V318V	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	318	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GAGACACTTTGACAAACACAC	0.562																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(1111-1113)gtC>gtG		synaptotagmin XV							103	105	104					10																	46964009		2078	4209	6287	SO:0001819	synonymous_variant	83849					integral to membrane|plasma membrane		g.chr10:46964009G>C	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.954C>G	10.37:g.46964009G>C			Somatic				SYT15_ENST00000374325.3_Silent_p.V318V|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Silent_p.V318V|SYT15_ENST00000503753.1_Silent_p.V318V	p.V371V			WXS	Illumina GAIIx	Phase_I	Q9BQS2	SYT15_HUMAN			6	1700	-			318			C2 2.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	ENST00000374321.4	37	c.1113C>G	CCDS44376.1																																																																																				0.562	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		19	152	0	0	0	1	0	19	152					C	46964009	G	C	46964009	2	2	31	1	0	0	0	0	0	0	0	1	15486	1277	45	2		2	SYT15	10	46964009	Silent	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	1009316	46964009	88570738	42	3036										
MKI67	4288	broad.mit.edu	37	chr10	129905829	129905829	+	Silent	SNP	T	T	C													0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	ttgatgcttttatcctcaccTcctggtactttatctgtgtg							TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr10:129905829T>C	ENST00000368654.3	-	13	4650	c.4275A>G	c.(4273-4275)ggA>ggG	p.G1425G	MKI67_ENST00000368653.3_Silent_p.G1065G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1425	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)				TATCCTCACCTCCTGGTACTT	0.483																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4273-4275)ggA>ggG		marker of proliferation Ki-67							280	262	268					10																	129905829		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905829T>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.4275A>G	10.37:g.129905829T>C			Somatic				MKI67_ENST00000368653.3_Silent_p.G1065G	p.G1425G	NM_002417.4	NP_002408.3	WXS	Illumina GAIIx	Phase_I	P46013	KI67_HUMAN			13	4650	-		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)	1425			16 X 122 AA approximate repeats.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.4275A>G	CCDS7659.1																																																																																				0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		5	241	0	0	0	1	0	5	241					C	129905829	T	C	129905829	2	2	31	1	0	0	0	0	0	0	0	1	9607	1538	54	4		4	MKI67	10	129905829	Silent	SNP	T	TCGA-N8-A4PQ-01A-11D-A28R-08	82941820	129905829	5628918	43	3037	10	2								
MKI67	4288	broad.mit.edu	37	chr10	129905831	129905831	+	Missense_Mutation	SNP	C	C	T													0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	gatgcttttatcctcacctcCtggtactttatctgtgtgtg							TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr10:129905831C>T	ENST00000368654.3	-	13	4648	c.4273G>A	c.(4273-4275)Gga>Aga	p.G1425R	MKI67_ENST00000368653.3_Missense_Mutation_p.G1065R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1425	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)				TCCTCACCTCCTGGTACTTTA	0.478																																						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.(4273-4275)Gga>Aga		marker of proliferation Ki-67							282	264	270					10																	129905831		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905831C>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.4273G>A	10.37:g.129905831C>T	ENSP00000357643:p.Gly1425Arg		Somatic				MKI67_ENST00000368653.3_Missense_Mutation_p.G1065R	p.G1425R	NM_002417.4	NP_002408.3	WXS	Illumina GAIIx	Phase_I	P46013	KI67_HUMAN			13	4648	-		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)	1425			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.4273G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332097	0.24167	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02085	4.46;4.46	4.02	0.749	0.18381	.	.	.	.	.	T	0.03695	0.0105	L	0.55481	1.735	0.09310	N	1	B;P;P	0.50272	0.006;0.933;0.863	B;P;P	0.45794	0.004;0.493;0.454	T	0.43278	-0.9401	9	0.16896	T	0.51	.	12.2873	0.54798	0.0:0.4925:0.5075:0.0	.	1424;1065;1425	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	R	1425;1065;1424	ENSP00000357643:G1425R;ENSP00000357642:G1065R	ENSP00000357642:G1065R	G	-	1	0	MKI67	129795821	0.009000	0.17119	0.000000	0.03702	0.015000	0.08874	0.738000	0.26158	0.058000	0.16222	0.561000	0.74099	GGA		0.478	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		6	246	0	0	0	1	0	6	246					T	129905831	C	T	129905831	3	4	31	1	0	0	0	0	1	0	0	0	9607	690	24	3	5509	3	MKI67	10	129905831	Missense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	2	129905831	5628916	44	3038	10	2								
PPP2R2D	55844	broad.mit.edu	37	chr10	133758848	133758848	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	gaggagctgaccgaagtcatCactgcagccgagttccaccc	11	14	2	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr10:133758848C>A	ENST00000422256.2	+	4	509	c.24C>A	c.(22-24)atC>atA	p.I8I	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	235	Poly-Gly.				exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CCGAAGTCATCACTGCAGCCG	0.562																																						ENST00000422256.2																			0				endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(22-24)atC>atA		protein phosphatase 2, regulatory subunit B, delta							127	129	128					10																	133758848		2203	4300	6503	SO:0001819	synonymous_variant	55844				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr10:133758848C>A	AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	23732	protein-coding gene	gene with protein product	"PP2A subunit B isoform delta"	613992	"protein phosphatase 2, regulatory subunit B, delta isoform"			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.24C>A	10.37:g.133758848C>A			Somatic				PPP2R2D_ENST00000470416.1_3'UTR	p.I8I			WXS	Illumina GAIIx	Phase_I	Q66LE6	2ABD_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)	4	509	+		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)	235			Poly-Gly.		A8KAK0|Q5SQJ2|Q9P1Y7	Silent	SNP	ENST00000422256.2	37	c.24C>A																																																																																					0.562	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_018461		15	97	1	0	2.31682e-05	1	2.5485e-05	15	97					A	133758848	C	A	133758848	2	1	31	1	0	0	0	0	0	0	0	1	12399	816	29	2		2	PPP2R2D	10	133758848	Silent	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	3853017	133758848	1775899	45	3039										
OR10A6	390093	broad.mit.edu	37	chr11	7950117	7950117	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	gtcaccagataaataaccagGaaagccacaaagagctgccc	8	12	1	2			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr11:7950117G>A	ENST00000309838.2	-	1	92	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	31						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)		AAATAACCAGGAAAGCCACAA	0.448																																						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.(91-93)ttC>ttT		olfactory receptor, family 10, subfamily A, member 6							71	73	72					11																	7950117		2201	4296	6497	SO:0001819	synonymous_variant	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7950117G>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.93C>T	11.37:g.7950117G>A			Somatic					p.F31F	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	92	-			31					Q6IF59	Silent	SNP	ENST00000309838.2	37	c.93C>T	CCDS31420.1																																																																																				0.448	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		86	26	0	0	0	1	0	86	26					A	7950117	G	A	7950117	2	1	31	1	0	0	0	0	0	0	0	1	10903	1165	41	3		3	OR10A6	11	7950117	Silent	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08		7950117	127056399	46	3040										
OR5D14	219436	broad.mit.edu	37	chr11	55563417	55563417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	tgaccgctttgtggccatctGcaatcctctgctttatacag	8	12	2	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr11:55563417G>A	ENST00000335605.1	+	1	386	c.386G>A	c.(385-387)tGc>tAc	p.C129Y		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTGGCCATCTGCAATCCTCTG	0.532																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(385-387)tGc>tAc		olfactory receptor, family 5, subfamily D, member 14							104	90	95					11																	55563417		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563417G>A	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.386G>A	11.37:g.55563417G>A	ENSP00000334456:p.Cys129Tyr		Somatic					p.C129Y	NM_001004735.1	NP_001004735.1	WXS	Illumina GAIIx	Phase_I	Q8NGL3	OR5DE_HUMAN			1	386	+		all_epithelial(135;0.196)	129					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.386G>A	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	g	17.83	3.484966	0.63962	.	.	ENSG00000186113	ENST00000335605	T	0.07216	3.21	5.08	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.262007	0.26609	N	0.023425	T	0.25044	0.0608	M	0.87180	2.865	0.46222	D	0.998932	D	0.56287	0.975	P	0.54924	0.764	T	0.03034	-1.1080	10	0.72032	D	0.01	-10.4559	11.702	0.51577	0.0864:0.0:0.9136:0.0	.	129	Q8NGL3	OR5DE_HUMAN	Y	129	ENSP00000334456:C129Y	ENSP00000334456:C129Y	C	+	2	0	OR5D14	55319993	1.000000	0.71417	0.825000	0.32803	0.561000	0.35649	5.909000	0.69923	2.363000	0.80096	0.643000	0.83706	TGC		0.532	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		7	50	0	0	0	1	0	7	50					A	55563417	G	A	55563417	3	1	31	1	0	0	0	0	1	0	0	0	11164	1319	46	3	388	3	OR5D14	11	55563417	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	47613300	55563417	79443099	47	3041										
SLC43A1	8501	broad.mit.edu	37	chr11	57281459	57281459	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	gtgctggaatagaagccctcGttcttcagaatgatcaacag	10	9	3	3			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr11:57281459G>C	ENST00000278426.3	-	2	481	c.126C>G	c.(124-126)aaC>aaG	p.N42K	SLC43A1_ENST00000528450.1_Missense_Mutation_p.N42K	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGAAGCCCTCGTTCTTCAGAA	0.597																																						ENST00000278426.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(124-126)aaC>aaG		solute carrier family 43 (amino acid system L transporter), member 1							42	37	39					11																	57281459		2201	4296	6497	SO:0001583	missense	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57281459G>C	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"Solute carriers"	9225	protein-coding gene	gene with protein product		603733	"prostate cancer overexpressed gene 1"	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.126C>G	11.37:g.57281459G>C	ENSP00000278426:p.Asn42Lys		Somatic				SLC43A1_ENST00000528450.1_Missense_Mutation_p.N42K	p.N42K	NM_003627.5	NP_003618.1	WXS	Illumina GAIIx	Phase_I	O75387	LAT3_HUMAN			2	481	-			42						Missense_Mutation	SNP	ENST00000278426.3	37	c.126C>G	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	G	0.040	-1.288941	0.01387	.	.	ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000533066;ENST00000533263	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.23	-10.5	0.00291	Major facilitator superfamily domain, general substrate transporter (1);	1.210410	0.05437	N	0.546938	T	0.11750	0.0286	N	0.03000	-0.44	0.19300	N	0.999979	B	0.02656	0.0	B	0.04013	0.001	T	0.07214	-1.0784	10	0.02654	T	1	-7.0E-4	5.727	0.18018	0.2619:0.099:0.4779:0.1613	.	42	O75387	LAT3_HUMAN	K	42	ENSP00000278426:N42K;ENSP00000435673:N42K;ENSP00000435647:N42K;ENSP00000435486:N42K	ENSP00000278426:N42K	N	-	3	2	SLC43A1	57038035	0.000000	0.05858	0.042000	0.18584	0.612000	0.37316	-4.009000	0.00314	-2.921000	0.00304	-1.331000	0.01271	AAC		0.597	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627		19	3	0	0	0	1	0	19	3					C	57281459	G	C	57281459	3	2	31	1	0	0	0	0	1	0	0	0	14647	1136	40	5	1609	5	SLC43A1	11	57281459	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	1718042	57281459	77725057	48	3042										
B4GALNT3	283358	broad.mit.edu	37	chr12	667810	667810	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	gaggctgcattgtggggccaCcccccagtggcctgagggtg	17	12	0	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:667810C>G	ENST00000266383.5	+	18	2757	c.2744C>G	c.(2743-2745)aCc>aGc	p.T915S		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	915					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)			TGTGGGGCCACCCCCCAGTGG	0.567																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2743-2745)aCc>aGc		beta-1,4-N-acetyl-galactosaminyl transferase 3							88	73	78					12																	667810		2203	4299	6502	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:667810C>G	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.2744C>G	12.37:g.667810C>G	ENSP00000266383:p.Thr915Ser		Somatic					p.T915S	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	2757	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		915					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.2744C>G	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	8.062	0.768287	0.15983	.	.	ENSG00000139044	ENST00000266383	T	0.14766	2.48	4.69	4.69	0.59074	.	0.054502	0.64402	D	0.000001	T	0.11024	0.0269	N	0.11698	0.16	0.53688	D	0.999972	P	0.40578	0.722	P	0.46585	0.521	T	0.02909	-1.1095	10	0.02654	T	1	-25.2651	17.9954	0.89182	0.0:1.0:0.0:0.0	.	915	Q6L9W6	B4GN3_HUMAN	S	915	ENSP00000266383:T915S	ENSP00000266383:T915S	T	+	2	0	B4GALNT3	538071	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.005000	0.70716	2.300000	0.77407	0.455000	0.32223	ACC		0.567	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		9	30	0	0	0	1	0	9	30					G	667810	C	G	667810	3	3	31	1	0	0	0	0	1	0	0	0	1268	507	18	5	2814	5	B4GALNT3	12	667810	Missense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08		667810	133184085	49	3043										
ZNF384	171017	broad.mit.edu	37	chr12	6787485	6787485	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	gggtcgatgctaccttcttgGagaggtcagggacaacctgc	14	10	2	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:6787485G>C	ENST00000396801.3	-	6	701	c.494C>G	c.(493-495)tCc>tGc	p.S165C	ZNF384_ENST00000355772.4_Missense_Mutation_p.S110C|ZNF384_ENST00000361959.3_Missense_Mutation_p.S165C|ZNF384_ENST00000396799.2_Missense_Mutation_p.S165C|ZNF384_ENST00000319770.3_Missense_Mutation_p.S149C|ZNF384_ENST00000396795.1_Missense_Mutation_p.S165C	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	165					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						TACCTTCTTGGAGAGGTCAGG	0.607			T	"EWSR1, TAF15 "	ALL																																	ENST00000396795.1				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	"EWSR1, TAF15 "		ALL	EWSR1/ZNF384(4)	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						c.(493-495)tCc>tGc		zinc finger protein 384							60	56	57					12																	6787485		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6787485G>C	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.494C>G	12.37:g.6787485G>C	ENSP00000380019:p.Ser165Cys		Somatic				ZNF384_ENST00000319770.3_Missense_Mutation_p.S149C|ZNF384_ENST00000396799.2_Missense_Mutation_p.S165C|ZNF384_ENST00000396801.3_Missense_Mutation_p.S165C|ZNF384_ENST00000361959.3_Missense_Mutation_p.S165C|ZNF384_ENST00000355772.4_Missense_Mutation_p.S110C	p.S165C			WXS	Illumina GAIIx	Phase_I	Q8TF68	ZN384_HUMAN			5	991	-			165					O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.494C>G	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914328	0.72983	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799;ENST00000417772;ENST00000436774;ENST00000542796;ENST00000540915;ENST00000535485	T;T;T;T;T;T;T	0.09255	3.08;3.05;3.0;3.0;3.08;3.05;3.42	5.47	5.47	0.80525	.	0.253853	0.32287	N	0.006303	T	0.17238	0.0414	N	0.14661	0.345	0.49687	D	0.999815	D;D;D;D;D	0.69078	0.997;0.964;0.995;0.986;0.995	P;D;P;P;P	0.63703	0.864;0.917;0.871;0.794;0.794	T	0.10109	-1.0644	10	0.38643	T	0.18	-11.2475	17.4978	0.87723	0.0:0.0:1.0:0.0	.	165;165;110;149;165	Q8TF68;E9PHB3;Q8TF68-3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.;.	C	149;165;165;165;110;165;165;149;149;165;149	ENSP00000321650:S149C;ENSP00000380013:S165C;ENSP00000380019:S165C;ENSP00000354592:S165C;ENSP00000348018:S110C;ENSP00000380017:S165C;ENSP00000412911:S149C	ENSP00000321650:S149C	S	-	2	0	ZNF384	6657746	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.091000	0.71406	2.560000	0.86352	0.591000	0.81541	TCC		0.607	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			24	20	0	0	0	1	0	24	20					C	6787485	G	C	6787485	3	2	31	1	0	0	0	0	1	0	0	0	17890	1174	41	2	1263	2	ZNF384	12	6787485	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	6119675	6787485	127064410	50	3044										
SCN8A	6334	broad.mit.edu	37	chr12	52139791	52139791	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	gacagaatcaacagtataatGagtgttgttacaaatacact	7	6	1	2			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:52139791G>A	ENST00000354534.6	+	13	2281	c.2103G>A	c.(2101-2103)atG>atA	p.M701I	SCN8A_ENST00000545061.1_Missense_Mutation_p.M701I|SCN8A_ENST00000550891.1_Missense_Mutation_p.M701I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	701					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)	ACAGTATAATGAGTGTTGTTA	0.403																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2101-2103)atG>atA		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						113	111	112					12																	52139791		1875	4099	5974	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.chr12:52139791G>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.2103G>A	12.37:g.52139791G>A	ENSP00000346534:p.Met701Ile		Somatic				SCN8A_ENST00000545061.1_Missense_Mutation_p.M701I|SCN8A_ENST00000550891.1_Missense_Mutation_p.M701I	p.M701I	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)	13	2281	+			701					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.2103G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370140	0.61624	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.95656	-3.73;-3.77;-3.74;-3.6	5.18	4.29	0.51040	.	0.135433	0.64402	D	0.000004	D	0.91640	0.7358	N	0.22421	0.69	0.52099	D	0.999946	B;B;B;B	0.33299	0.407;0.002;0.015;0.066	B;B;B;B	0.37144	0.242;0.002;0.006;0.03	D	0.91292	0.5060	10	0.56958	D	0.05	.	13.9073	0.63843	0.0729:0.0:0.9271:0.0	.	701;712;701;701	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	I	701;701;701;701;614	ENSP00000448415:M701I;ENSP00000346534:M701I;ENSP00000440360:M701I;ENSP00000347255:M701I	ENSP00000346534:M701I	M	+	3	0	SCN8A	50426058	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.427000	0.59888	1.545000	0.49373	0.655000	0.94253	ATG		0.403	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		22	19	0	0	0	1	0	22	19					A	52139791	G	A	52139791	3	1	31	1	0	0	0	0	1	0	0	0	13939	1290	45	3	2149	3	SCN8A	12	52139791	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	45352306	52139791	81712104	51	3045										
NCKAP1L	3071	broad.mit.edu	37	chr12	54914489	54914489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	tctctgcagctttcatcttcGtatctttgagaagatgtttg	8	8	4	2	rs184942472		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:54914489G>A	ENST00000293373.6	+	17	1716	c.1637G>A	c.(1636-1638)cGt>cAt	p.R546H	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R496H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	546					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						TTTCATCTTCGTATCTTTGAG	0.393													G|||	1	0.000199681	0	0	5008	,	,		20830	0.001		0	False		,,,				2504	0					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.(1636-1638)cGt>cAt		NCK-associated protein 1-like							295	259	272					12																	54914489		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.chr12:54914489G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1637G>A	12.37:g.54914489G>A	ENSP00000293373:p.Arg546His		Somatic				NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R496H	p.R546H	NM_005337.4	NP_005328.2	WXS	Illumina GAIIx	Phase_I	P55160	NCKPL_HUMAN			17	1716	+			546					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1637G>A	CCDS31813.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	26.4	4.737083	0.89482	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.33865	1.39;1.39	5.5	5.5	0.81552	.	0.052976	0.85682	D	0.000000	T	0.41143	0.1146	M	0.71581	2.175	0.54753	D	0.999983	B	0.33379	0.41	B	0.30646	0.118	T	0.40905	-0.9538	10	0.62326	D	0.03	-13.2191	17.2611	0.87070	0.0:0.0:1.0:0.0	.	546	P55160	NCKPL_HUMAN	H	546;496	ENSP00000293373:R546H;ENSP00000445596:R496H	ENSP00000293373:R546H	R	+	2	0	NCKAP1L	53200756	1.000000	0.71417	0.963000	0.40424	0.981000	0.71138	7.643000	0.83403	2.755000	0.94549	0.555000	0.69702	CGT		0.393	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		35	75	0	0	0	1	0	35	75					A	54914489	G	A	54914489	3	1	31	1	0	0	0	0	1	0	0	0	10231	1145	40	1	1703	1	NCKAP1L	12	54914489	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	2774698	54914489	78937406	52	3046										
PPFIA2	8499	broad.mit.edu	37	chr12	81657012	81657012	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	aatgcaaaactactgtaccaTctgttgtcatttttcttgac	5	9	3	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:81657012T>A	ENST00000549396.1	-	31	3873	c.3713A>T	c.(3712-3714)gAt>gTt	p.D1238V	PPFIA2_ENST00000552948.1_Missense_Mutation_p.D1217V|PPFIA2_ENST00000550584.2_Missense_Mutation_p.D1238V|PPFIA2_ENST00000541017.1_Missense_Mutation_p.D424V|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D1226V|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.D1085V|PPFIA2_ENST00000548586.1_Missense_Mutation_p.D1232V|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D1133V|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D1137V|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D1223V|PPFIA2_ENST00000541570.2_Missense_Mutation_p.D774V	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1238					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TACTGTACCATCTGTTGTCAT	0.398																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(3712-3714)gAt>gTt		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							109	100	103					12																	81657012		1898	4132	6030	SO:0001583	missense	8499							g.chr12:81657012T>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3713A>T	12.37:g.81657012T>A	ENSP00000450337:p.Asp1238Val		Somatic				PPFIA2_ENST00000548586.1_Missense_Mutation_p.D1232V|PPFIA2_ENST00000541570.2_Missense_Mutation_p.D774V|PPFIA2_ENST00000549396.1_Missense_Mutation_p.D1238V|PPFIA2_ENST00000550359.2_Missense_Mutation_p.D1085V|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D1133V|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Missense_Mutation_p.D424V|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D1137V|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D1217V|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D1226V|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D1223V	p.D1238V	NM_001220473.1	NP_001207402.1	WXS	Illumina GAIIx	Phase_I	B7Z663	B7Z663_HUMAN			30	4008	-			1137					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.3713A>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.959155	0.53400	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.33438	2.16;2.07;1.77;1.41;1.83;2.08;2.16;1.84;2.16	5.08	5.08	0.68730	.	0.117723	0.56097	D	0.000031	T	0.26810	0.0656	L	0.34521	1.04	0.80722	D	1	B	0.28713	0.22	B	0.28139	0.086	T	0.08680	-1.0710	10	0.87932	D	0	-15.4729	14.8422	0.70233	0.0:0.0:0.0:1.0	.	1238	O75334	LIPA2_HUMAN	V	1238;1223;774;424;1137;1251;1226;1232;1133;1217	ENSP00000450337:D1238V;ENSP00000450298:D1223V;ENSP00000438337:D774V;ENSP00000445532:D424V;ENSP00000385093:D1137V;ENSP00000327416:D1226V;ENSP00000449338:D1232V;ENSP00000388373:D1133V;ENSP00000447868:D1217V	ENSP00000327416:D1226V	D	-	2	0	PPFIA2	80181143	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.610000	0.82949	1.923000	0.55706	0.528000	0.53228	GAT		0.398	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			3	5	0	0	0	1	0	3	5					A	81657012	T	A	81657012	3	1	31	1	0	0	0	0	1	0	0	0	12319	1435	50	4	68	4	PPFIA2	12	81657012	Missense_Mutation	SNP	T	TCGA-N8-A4PQ-01A-11D-A28R-08	26742523	81657012	52194883	53	3047										
STAB2	55576	broad.mit.edu	37	chr12	104155079	104155079	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	cctcttctcatttccctagaCggagaccaggtttgttgatg	9	11	2	3	rs529403514		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:104155079C>T	ENST00000388887.2	+	66	7454	c.7250C>T	c.(7249-7251)aCg>aTg	p.T2417M	RP11-341G23.4_ENST00000551299.1_RNA|RP11-341G23.4_ENST00000550029.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.T2417M(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTTCCCTAGACGGAGACCAGG	0.512																																						ENST00000388887.2																			1	Substitution - Missense(1)	p.T2417M(1)	ovary(1)	NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.e66-1		stabilin 2							143	123	130					12																	104155079		2203	4300	6503	SO:0001630	splice_region_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.chr12:104155079C>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.7249-1C>T	12.37:g.104155079C>T			Somatic				RP11-341G23.4_ENST00000551299.1_RNA	p.T2417_splice	NM_017564.9	NP_060034.9	WXS	Illumina GAIIx	Phase_I	Q8WWQ8	STAB2_HUMAN			66	7454	+			2417			FAS1 7.			Splice_Site	SNP	ENST00000388887.2	37	c.7248_splice	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	4.164	0.028883	0.08054	.	.	ENSG00000136011	ENST00000388887	D	0.90676	-2.71	3.45	2.26	0.28386	FAS1 domain (4);	1.025530	0.07768	U	0.951213	D	0.83580	0.5285	L	0.29908	0.895	0.27552	N	0.950459	B	0.27380	0.177	B	0.19391	0.025	T	0.71417	-0.4599	10	0.46703	T	0.11	.	6.6327	0.22865	0.4311:0.4749:0.094:0.0	.	2417	Q8WWQ8	STAB2_HUMAN	M	2417	ENSP00000373539:T2417M	ENSP00000373539:T2417M	T	+	2	0	STAB2	102679209	0.100000	0.21855	0.884000	0.34674	0.300000	0.27592	0.113000	0.15499	0.229000	0.21039	-0.266000	0.10368	ACG		0.512	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		Missense_Mutation	7	33	0	0	0	1	0	7	33					T	104155079	C	T	104155079	5	4	31	1	0	0	0	0	0	0	1	0	15253	550	19	1	7512	1	STAB2	12	104155079	Splice_Site	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	22498067	104155079	29696816	54	3048										
MPHOSPH9	10198	broad.mit.edu	37	chr12	123703047	123703047	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	cccatgatgttatagcattaCtatttaagaagagaaaacca	6	7	0	3			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:123703047C>A	ENST00000606320.1	-	6	1079		c.e6-1		MPHOSPH9_ENST00000392425.3_Splice_Site|MPHOSPH9_ENST00000302349.5_Splice_Site|MPHOSPH9_ENST00000541076.2_Splice_Site			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9							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)		TATAGCATTACTATTTAAGAA	0.398																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.e6-1		M-phase phosphoprotein 9							165	151	156					12																	123703047		2203	4300	6503	SO:0001630	splice_region_variant	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123703047C>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.873-1G>T	12.37:g.123703047C>A			Somatic				MPHOSPH9_ENST00000541076.2_Splice_Site|MPHOSPH9_ENST00000302349.5_Splice_Site|MPHOSPH9_ENST00000392425.3_Splice_Site				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)	6	1079	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)							A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Splice_Site	SNP	ENST00000606320.1	37			.	.	.	.	.	.	.	.	.	.	C	13.44	2.238865	0.39598	.	.	ENSG00000051825;ENSG00000051825;ENSG00000257076;ENSG00000257076	ENST00000302349;ENST00000541076;ENST00000539336;ENST00000537854	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0755	0.80965	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MPHOSPH9;RP11-546D6.2	122269000	0.993000	0.37304	0.116000	0.21606	0.189000	0.23516	1.430000	0.34914	2.397000	0.81536	0.555000	0.69702	.		0.398	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2		Intron	9	75	1	0	0.000673444	1	0.000698857	9	75					A	123703047	C	A	123703047	5	1	31	1	0	0	0	0	0	0	1	0	9737	579	20	5	2755	5	MPHOSPH9	12	123703047	Splice_Site	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	19547968	123703047	10148848	55	3049										
LHFP	10186	broad.mit.edu	37	chr13	40175117	40175117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	gtgcagatcctccattctgcGctggggatgccctggaagga	14	11	1	1	rs200795995	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr13:40175117G>A	ENST00000379589.3	-	2	699	c.237C>T	c.(235-237)agC>agT	p.S79S	LHFP_ENST00000495922.1_5'Flank	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	79						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)		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)		TCCATTCTGCGCTGGGGATGC	0.597			T	HMGA2	lipoma								G|||	2	0.000399361	0	0	5008	,	,		19516	0.002		0	False		,,,				2504	0					ENST00000379589.3				Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13						c.(235-237)agC>agT		lipoma HMGIC fusion partner							170	150	157					13																	40175117		2203	4300	6503	SO:0001819	synonymous_variant	10186					integral to membrane	DNA binding	g.chr13:40175117G>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.237C>T	13.37:g.40175117G>A			Somatic					p.S79S	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	699	-		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)	79					B2R7M2|Q53FC0|Q96SH5	Silent	SNP	ENST00000379589.3	37	c.237C>T	CCDS9369.1																																																																																				0.597	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		144	47	0	0	0	1	0	144	47					A	40175117	G	A	40175117	2	1	31	1	0	0	0	0	0	0	0	1	8772	1078	38	1		1	LHFP	13	40175117	Silent	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08		40175117	74994761	56	3050										
C14orf49	161176	broad.mit.edu	37	chr14	95921744	95921744	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	ctccagtgtgccaccagctcGtcctcggtccccgctttcgc	9	19	0	0			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr14:95921744G>A	ENST00000334258.5	-	5	1121	c.1107C>T	c.(1105-1107)gaC>gaT	p.D369D	SYNE3_ENST00000553340.1_Silent_p.D369D|SYNE3_ENST00000557275.1_Silent_p.D369D|SYNE3_ENST00000554873.1_Silent_p.D126D	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	369					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						CCACCAGCTCGTCCTCGGTCC	0.642																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(1105-1107)gaC>gaT		spectrin repeat containing, nuclear envelope family member 3							32	35	34					14																	95921744		2203	4300	6503	SO:0001819	synonymous_variant	161176							g.chr14:95921744G>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.1107C>T	14.37:g.95921744G>A			Somatic				SYNE3_ENST00000554873.1_Silent_p.D126D|SYNE3_ENST00000557275.1_Silent_p.D369D|SYNE3_ENST00000553340.1_Silent_p.D369D	p.D369D	NM_152592.3	NP_689805.3	WXS	Illumina GAIIx	Phase_I					5	1121	-								A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.1107C>T	CCDS9935.1																																																																																				0.642	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		8	29	0	0	0	1	0	8	29					A	95921744	G	A	95921744	2	1	31	1	0	0	0	0	0	0	0	1	1778	1136	40	1		1	C14orf49	14	95921744	Silent	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08		95921744	11427796	57	3051										
WDR72	256764	broad.mit.edu	37	chr15	53889416	53889416	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	tgacgggtatctttcccaaaCtcttcatgtgttgttgaact	8	9	3	2			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr15:53889416C>A	ENST00000396328.1	-	18	3247	c.3008G>T	c.(3007-3009)aGt>aTt	p.S1003I	WDR72_ENST00000557913.1_Missense_Mutation_p.S1000I|WDR72_ENST00000360509.5_Missense_Mutation_p.S1003I|WDR72_ENST00000559418.1_Missense_Mutation_p.S1013I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1003										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)		CTTTCCCAAACTCTTCATGTG	0.388																																						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.(3007-3009)aGt>aTt		WD repeat domain 72							232	210	218					15																	53889416		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53889416C>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.3008G>T	15.37:g.53889416C>A	ENSP00000379619:p.Ser1003Ile		Somatic				WDR72_ENST00000557913.1_Missense_Mutation_p.S1000I|WDR72_ENST00000360509.5_Missense_Mutation_p.S1003I|WDR72_ENST00000559418.1_Missense_Mutation_p.S1013I	p.S1003I	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)	18	3247	-			1003					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.3008G>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461699	0.26248	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.38077	1.16;1.16	6.04	2.05	0.26809	.	0.507607	0.21027	N	0.081412	T	0.20170	0.0485	L	0.29908	0.895	0.09310	N	1	P	0.35383	0.498	B	0.27500	0.08	T	0.13388	-1.0511	10	0.66056	D	0.02	.	5.2309	0.15422	0.0801:0.3357:0.466:0.1183	.	1003	Q3MJ13	WDR72_HUMAN	I	1003	ENSP00000379619:S1003I;ENSP00000353699:S1003I	ENSP00000353699:S1003I	S	-	2	0	WDR72	51676708	0.964000	0.33143	0.003000	0.11579	0.553000	0.35397	1.033000	0.30191	0.130000	0.18549	-0.344000	0.07964	AGT		0.388	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		15	67	1	0	5.01169e-05	1	5.45828e-05	15	67					A	53889416	C	A	53889416	3	1	31	1	0	0	0	0	1	0	0	0	17337	565	20	5	312	5	WDR72	15	53889416	Missense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08		53889416	48641976	58	3052										
RHCG	51458	broad.mit.edu	37	chr15	90023572	90023572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	ggttgcgtcggtagaggatcCgggtcactgtgagcccaaag	16	9	1	2	rs149510924		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr15:90023572C>T	ENST00000268122.4	-	4	658	c.590G>A	c.(589-591)cGg>cAg	p.R197Q	RHCG_ENST00000544600.1_Missense_Mutation_p.R197Q	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	197					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.R197L(1)|p.R197Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GTAGAGGATCCGGGTCACTGT	0.557													C|||	1	0.000199681	8e-04	0	5008	,	,		21444	0		0	False		,,,				2504	0					ENST00000268122.4																			2	Substitution - Missense(2)	p.R197L(1)|p.R197Q(1)	lung(1)|endometrium(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(589-591)cGg>cAg		Rh family, C glycoprotein							222	202	209					15																	90023572		2200	4299	6499	SO:0001583	missense	51458				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr15:90023572C>T	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"Solute carriers"	18140	protein-coding gene	gene with protein product		605381	"chromosome 15 open reading frame 6", "Rhesus blood group, C glycoprotein"	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.590G>A	15.37:g.90023572C>T	ENSP00000268122:p.Arg197Gln		Somatic				RHCG_ENST00000544600.1_Missense_Mutation_p.R197Q	p.R197Q	NM_016321.1	NP_057405.1	WXS	Illumina GAIIx	Phase_I	Q9UBD6	RHCG_HUMAN			4	658	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		197					A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	37	c.590G>A	CCDS10351.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.19	3.053694	0.55218	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.22336	1.96;1.96	5.45	4.54	0.55810	Ammonium transporter AmtB-like (3);	0.179356	0.53938	D	0.000054	T	0.24624	0.0597	M	0.84948	2.725	0.42316	D	0.992239	P;P	0.39060	0.657;0.657	B;B	0.29663	0.105;0.105	T	0.10847	-1.0612	9	.	.	.	-6.7371	10.5513	0.45090	0.0:0.7942:0.1335:0.0723	.	197;197	A8K4D4;Q9UBD6	.;RHCG_HUMAN	Q	197;197;188	ENSP00000438123:R197Q;ENSP00000268122:R197Q	.	R	-	2	0	RHCG	87824576	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.028000	0.57246	1.323000	0.45263	0.456000	0.33151	CGG		0.557	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321		56	26	0	0	0	1	0	56	26					T	90023572	C	T	90023572	3	4	31	1	0	0	0	0	1	0	0	0	13341	652	23	1	877	1	RHCG	15	90023572	Missense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	36134156	90023572	12507820	59	3053										
HBA1	3039	broad.mit.edu	37	chr16	227404	227404	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	accgtgctgacctccaaataCcgttaagctggagcctcggt	10	13	0	1	rs121913128		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr16:227404C>A	ENST00000320868.5	+	3	460	c.423C>A	c.(421-423)taC>taA	p.Y141*	HBA1_ENST00000397797.1_Nonsense_Mutation_p.Y109*|Y_RNA_ENST00000384514.1_RNA	NM_000558.3	NP_000549.1	P69905	HBA_HUMAN	hemoglobin, alpha 1	141			Y -> H (in Rouen/Ethiopia; O(2) affinity up). {ECO:0000269|PubMed:1428951}.		bicarbonate transport (GO:0015701)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of cell death (GO:0010942)|protein heterooligomerization (GO:0051291)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			lung(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Iron Dextran(DB00893)|Mefloquine(DB00358)	CCTCCAAATACCGTTAAGCTG	0.647											OREG0003687	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000320868.5																			0				lung(1)	1						c.(421-423)taC>taA		hemoglobin, alpha 1	Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)						50	43	46					16																	227404		2203	4300	6503	SO:0001587	stop_gained	3039				hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding	g.chr16:227404C>A	AF349571	CCDS10399.1	16p13.3	2014-05-19			ENSG00000206172	ENSG00000206172			4823	protein-coding gene	gene with protein product		141800				1975428, 2649166	Standard	NM_000558		Approved	HBA-T3	uc002cfx.1	P69905	OTTHUMG00000060138	ENST00000320868.5:c.423C>A	16.37:g.227404C>A	ENSP00000322421:p.Tyr141*		Somatic	OREG0003687	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	586	HBA1_ENST00000397797.1_Nonsense_Mutation_p.Y109*	p.Y141*	NM_000558.3	NP_000549.1	WXS	Illumina GAIIx	Phase_I	P69905	HBA_HUMAN			3	460	+		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	141		Y -> H (in Rouen/Ethiopia; O(2) affinity up).			P01922|Q1HDT5|Q3MIF5|Q53F97|Q96KF1|Q9NYR7|Q9UCM0	Nonsense_Mutation	SNP	ENST00000320868.5	37	c.423C>A	CCDS10399.1	.	.	.	.	.	.	.	.	.	.	c	11.05	1.525657	0.27299	.	.	ENSG00000206172	ENST00000320868;ENST00000397797	.	.	.	3.94	1.48	0.22813	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.29676	N	0.842056	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-45.8768	6.9625	0.24605	0.0:0.7357:0.0:0.2643	.	.	.	.	X	141;109	.	ENSP00000322421:Y141X	Y	+	3	2	HBA1	167404	1.000000	0.71417	0.007000	0.13788	0.957000	0.61999	1.145000	0.31577	0.083000	0.17047	0.556000	0.70494	TAC		0.647	HBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133459.1	NM_000558		5	17	1	0	0.000602214	1	0.000630891	5	17					A	227404	C	A	227404	4	1	31	1	0	0	0	0	0	1	0	0	6985	518	18	5	433	5	HBA1	16	227404	Nonsense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08		227404	90127349	60	3054										
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67	58	61					17																	7577120		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.chr17:7577120C>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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	p.R273H	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	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	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.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	8	0	0	0	1	0	24	8					T	7577120	C	T	7577120	3	4	31	1	0	0	0	0	1	0	0	0	16396	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08		7577120	73618090	61	3055										
KDM6B	23135	broad.mit.edu	37	chr17	7751444	7751444	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	gcctccagcccctccttcctCctgccaccaaaatacctcag	4	21	1	0			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:7751444C>T	ENST00000448097.2	+	11	2169	c.1838C>T	c.(1837-1839)tCc>tTc	p.S613F	KDM6B_ENST00000254846.5_Missense_Mutation_p.S613F			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	613	Pro-rich.				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						CCTCCTTCCTCCTGCCACCAA	0.677																																						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.(1837-1839)tCc>tTc		lysine (K)-specific demethylase 6B							27	37	33					17																	7751444		2180	4265	6445	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.chr17:7751444C>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.1838C>T	17.37:g.7751444C>T	ENSP00000412513:p.Ser613Phe		Somatic				KDM6B_ENST00000448097.2_Missense_Mutation_p.S613F	p.S613F	NM_001080424.1	NP_001073893.1	WXS	Illumina GAIIx	Phase_I	O15054	KDM6B_HUMAN			11	2227	+			613			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.1838C>T		.	.	.	.	.	.	.	.	.	.	C	10.38	1.333481	0.24167	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.12774	2.65;2.65	4.36	4.36	0.52297	.	0.125717	0.34853	N	0.003636	T	0.13500	0.0327	N	0.14661	0.345	0.27194	N	0.960343	P	0.49090	0.919	P	0.49276	0.605	T	0.04961	-1.0915	10	0.87932	D	0	-17.7918	14.7714	0.69681	0.0:1.0:0.0:0.0	.	613	O15054-1	.	F	613	ENSP00000254846:S613F;ENSP00000412513:S613F	ENSP00000254846:S613F	S	+	2	0	KDM6B	7692169	0.993000	0.37304	1.000000	0.80357	0.962000	0.63368	4.065000	0.57513	2.440000	0.82611	0.491000	0.48974	TCC		0.677	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		5	89	0	0	0	1	0	5	89					T	7751444	C	T	7751444	3	4	31	1	0	0	0	0	1	0	0	0	8147	855	30	3	1868	3	KDM6B	17	7751444	Missense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	174324	7751444	73443766	62	3056										
KCNJ12	3768	broad.mit.edu	37	chr17	21319329	21319329	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	cgcaagagccacattgtggaGgcccatgtgcgcgcgcagct	14	13	0	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:21319329G>A	ENST00000583088.1	+	3	1570	c.675G>A	c.(673-675)gaG>gaA	p.E225E	KCNJ12_ENST00000331718.5_Silent_p.E225E	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	225					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)	ACATTGTGGAGGCCCATGTGC	0.642										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.(673-675)gaG>gaA		potassium inwardly-rectifying channel, subfamily J, member 12							86	70	75					17																	21319329		2203	4300	6503	SO:0001819	synonymous_variant	3768							g.chr17:21319329G>A	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.675G>A	17.37:g.21319329G>A		Prostate(3;0.18)	Somatic				KCNJ12_ENST00000331718.5_Silent_p.E225E	p.E225E	NM_021012.4	NP_066292.2	WXS	Illumina GAIIx	Phase_I				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1570	+								O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.675G>A	CCDS11219.1																																																																																				0.642	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		4	84	0	0	0	1	0	4	84					A	21319329	G	A	21319329	2	1	31	1	0	0	0	0	0	0	0	1	8055	991	35	3		3	KCNJ12	17	21319329	Silent	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	13567885	21319329	59875881	63	3057										
CCR7	1236	broad.mit.edu	37	chr17	38711153	38711153	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	aacttgacgccgatgaaggcGtacaagaaagggttgacgca	13	8	0	4	rs577434759		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:38711153G>A	ENST00000246657.2	-	3	1040	c.978C>T	c.(976-978)taC>taT	p.Y326Y	CCR7_ENST00000579344.1_Silent_p.Y320Y	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	326					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CGATGAAGGCGTACAAGAAAG	0.587													g|||	1	0.000199681	8e-04	0	5008	,	,		23147	0		0	False		,,,				2504	0					ENST00000246657.2																			0				breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(976-978)taC>taT		chemokine (C-C motif) receptor 7							170	138	149					17																	38711153		2203	4300	6503	SO:0001819	synonymous_variant	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711153G>A		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.978C>T	17.37:g.38711153G>A			Somatic				CCR7_ENST00000579344.1_Silent_p.Y320Y	p.Y326Y	NM_001838.3	NP_001829.1	WXS	Illumina GAIIx	Phase_I	P32248	CCR7_HUMAN			3	1040	-		Breast(137;0.000496)	326						Silent	SNP	ENST00000246657.2	37	c.978C>T	CCDS11369.1																																																																																				0.587	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			14	45	0	0	0	1	0	14	45					A	38711153	G	A	38711153	2	1	31	1	0	0	0	0	0	0	0	1	2948	1140	40	1		1	CCR7	17	38711153	Silent	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	17391824	38711153	42484057	64	3058										
PYY	5697	broad.mit.edu	37	chr17	42030806	42030806	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	taggcagacgagcagggccaGaagcactgtggtcaaggcgg	17	9	1	2			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:42030806G>C	ENST00000360085.2	-	5	586	c.46C>G	c.(46-48)Ctg>Gtg	p.L16V	PYY_ENST00000592796.1_Missense_Mutation_p.L16V	NM_004160.4	NP_004151	P10082	PYY_HUMAN	peptide YY	16					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|digestion (GO:0007586)|eating behavior (GO:0042755)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(1)|ovary(1)	2		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGCAGGGCCAGAAGCACTGTG	0.662																																						ENST00000360085.2																			0				endometrium(1)|ovary(1)	2						c.(46-48)Ctg>Gtg		peptide YY							28	26	26					17																	42030806		2202	4300	6502	SO:0001583	missense	5697				cell proliferation|cell-cell signaling|cellular component movement|cytoskeleton organization|digestion|G-protein coupled receptor protein signaling pathway	soluble fraction		g.chr17:42030806G>C		CCDS32662.1	17q21.1	2013-02-28				ENSG00000131096		"Endogenous ligands"	9748	protein-coding gene	gene with protein product	"prepro-PYY"	600781				7782089	Standard	NM_004160		Approved	PYY1	uc002ieq.3	P10082		ENST00000360085.2:c.46C>G	17.37:g.42030806G>C	ENSP00000353198:p.Leu16Val		Somatic				PYY_ENST00000592796.1_Missense_Mutation_p.L16V	p.L16V	NM_004160.4	NP_004151.3	WXS	Illumina GAIIx	Phase_I	P10082	PYY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	5	586	-		Breast(137;0.00314)|Prostate(33;0.0724)	16					Q5U5Q6|Q6FGH8	Missense_Mutation	SNP	ENST00000360085.2	37	c.46C>G	CCDS32662.1	.	.	.	.	.	.	.	.	.	.	.	14.83	2.651490	0.47362	.	.	ENSG00000131096	ENST00000360085	T	0.21543	2.0	4.73	3.75	0.43078	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.43632	D	0.99602	B	0.22909	0.077	B	0.23150	0.044	T	0.03268	-1.1054	8	0.45353	T	0.12	-0.0588	10.9836	0.47510	0.0:0.1893:0.8107:0.0	.	16	P10082	PYY_HUMAN	V	16	ENSP00000353198:L16V	ENSP00000353198:L16V	L	-	1	2	PYY	39386332	1.000000	0.71417	0.987000	0.45799	0.071000	0.16799	5.638000	0.67861	0.966000	0.38159	-0.326000	0.08463	CTG		0.662	PYY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000457658.1	NM_004160		4	22	0	0	0	1	0	4	22					C	42030806	G	C	42030806	3	2	31	1	0	0	0	0	1	0	0	0	12883	933	33	2	259	2	PYY	17	42030806	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	3319653	42030806	39164404	65	3059										
TTLL6	284076	broad.mit.edu	37	chr17	46847315	46847315	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	taagtgtggaggggtctgctGcttcttgcatttaaaggata	13	5	2	0			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:46847315G>A	ENST00000393382.3	-	14	2326	c.2185C>T	c.(2185-2187)Cag>Tag	p.Q729*	TTLL6_ENST00000433608.2_Nonsense_Mutation_p.Q422*	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						GGGGTCTGCTGCTTCTTGCAT	0.502																																						ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(2185-2187)Cag>Tag		tubulin tyrosine ligase-like family, member 6							80	82	81					17																	46847315		2203	4300	6503	SO:0001587	stop_gained	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46847315G>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.2185C>T	17.37:g.46847315G>A	ENSP00000377043:p.Gln729*		Somatic				TTLL6_ENST00000433608.2_Nonsense_Mutation_p.Q422*	p.Q729*	NM_001130918.1	NP_001124390.1	WXS	Illumina GAIIx	Phase_I	Q8N841	TTLL6_HUMAN			14	2326	-			681						Nonsense_Mutation	SNP	ENST00000393382.3	37	c.2185C>T	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	G	33	5.221674	0.95139	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	4.48	3.51	0.40186	.	7739.210000	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	8.7123	0.34391	0.1036:0.0:0.8964:0.0	.	.	.	.	X	729;422;407;681	.	ENSP00000302547:Q422X	Q	-	1	0	TTLL6	44202314	0.051000	0.20477	0.010000	0.14722	0.004000	0.04260	2.395000	0.44459	1.250000	0.43966	-0.150000	0.13652	CAG		0.502	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		11	105	0	0	0	1	0	11	105					A	46847315	G	A	46847315	4	1	31	1	0	0	0	0	0	1	0	0	16746	1328	46	3	498	3	TTLL6	17	46847315	Nonsense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	4816509	46847315	34347895	66	3060										
TTLL6	284076	broad.mit.edu	37	chr17	46847428	46847428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	agattgagagttgggtggtgGattctggggtggtttctacg	18	3	2	2			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:46847428G>A	ENST00000393382.3	-	14	2213	c.2072C>T	c.(2071-2073)tCc>tTc	p.S691F	TTLL6_ENST00000433608.2_Missense_Mutation_p.S384F	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						TTGGGTGGTGGATTCTGGGGT	0.498																																						ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(2071-2073)tCc>tTc		tubulin tyrosine ligase-like family, member 6							67	74	72					17																	46847428		2202	4300	6502	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46847428G>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.2072C>T	17.37:g.46847428G>A	ENSP00000377043:p.Ser691Phe		Somatic				TTLL6_ENST00000433608.2_Missense_Mutation_p.S384F	p.S691F	NM_001130918.1	NP_001124390.1	WXS	Illumina GAIIx	Phase_I	Q8N841	TTLL6_HUMAN			14	2213	-			643						Missense_Mutation	SNP	ENST00000393382.3	37	c.2072C>T	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	G	9.377	1.071928	0.20147	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	4.27	1.04	0.20106	.	7739.210000	0.00166	N	0.000000	T	0.45337	0.1337	L	0.56769	1.78	0.09310	N	1	B;B	0.14012	0.003;0.009	B;B	0.16722	0.003;0.016	T	0.20874	-1.0262	9	0.49607	T	0.09	.	4.1536	0.10249	0.1998:0.0:0.6198:0.1804	.	643;384	Q8N841;G5E937	TTLL6_HUMAN;.	F	691;384;369;643	.	ENSP00000302547:S384F	S	-	2	0	TTLL6	44202427	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.073000	0.14640	0.174000	0.19809	0.591000	0.81541	TCC		0.498	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		11	88	0	0	0	1	0	11	88					A	46847428	G	A	46847428	3	1	31	1	0	0	0	0	1	0	0	0	16746	1174	41	3	611	3	TTLL6	17	46847428	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	113	46847428	34347782	67	3061										
KIF2B	84643	broad.mit.edu	37	chr17	51901710	51901710	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	cctgaagtcaggacggataaTgcatggcaagttttccctcg	11	10	1	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:51901710T>G	ENST00000268919.4	+	1	1472	c.1316T>G	c.(1315-1317)aTg>aGg	p.M439R		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	439	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			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						GGACGGATAATGCATGGCAAG	0.507																																						ENST00000268919.4																			0				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.(1315-1317)aTg>aGg		kinesin family member 2B							70	59	63					17																	51901710		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.chr17:51901710T>G	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.1316T>G	17.37:g.51901710T>G	ENSP00000268919:p.Met439Arg		Somatic					p.M439R	NM_032559.4	NP_115948.4	WXS	Illumina GAIIx	Phase_I	Q8N4N8	KIF2B_HUMAN			1	1472	+			439			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1316T>G	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.634678	0.29068	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74209	-0.82	5.73	5.73	0.89815	Kinesin, motor domain (4);	0.471047	0.15550	N	0.256472	T	0.53417	0.1795	N	0.02357	-0.585	0.34580	D	0.714407	B	0.02656	0.0	B	0.01281	0.0	T	0.59397	-0.7462	10	0.44086	T	0.13	.	15.5002	0.75691	0.0:0.0:0.0:1.0	.	439	Q8N4N8	KIF2B_HUMAN	R	439;327	ENSP00000268919:M439R	ENSP00000268919:M439R	M	+	2	0	KIF2B	49256709	1.000000	0.71417	0.692000	0.30179	0.142000	0.21351	6.234000	0.72326	2.302000	0.77476	0.533000	0.62120	ATG		0.507	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		10	42	0	0	0	1	0	10	42					G	51901710	T	G	51901710	3	3	31	1	0	0	0	0	1	0	0	0	8307	1464	51	4	1318	4	KIF2B	17	51901710	Missense_Mutation	SNP	T	TCGA-N8-A4PQ-01A-11D-A28R-08	5054282	51901710	29293500	68	3062										
TEX2	55852	broad.mit.edu	37	chr17	62272447	62272447	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	tcatagttgtaaatctcattCatccatccctgatgaagaaa	5	9	3	3			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:62272447C>A	ENST00000583097.1	-	3	1825	c.1653G>T	c.(1651-1653)atG>atT	p.M551I	TEX2_ENST00000258991.3_Missense_Mutation_p.M551I|TEX2_ENST00000584379.1_Missense_Mutation_p.M551I			Q8IWB9	TEX2_HUMAN	testis expressed 2	551					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AAATCTCATTCATCCATCCCT	0.383																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1651-1653)atG>atT		testis expressed 2							67	60	63					17																	62272447		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62272447C>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1653G>T	17.37:g.62272447C>A	ENSP00000462665:p.Met551Ile		Somatic				TEX2_ENST00000583097.1_Missense_Mutation_p.M551I|TEX2_ENST00000584379.1_Missense_Mutation_p.M551I	p.M551I			WXS	Illumina GAIIx	Phase_I	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	3	1737	-			551					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.1653G>T		.	.	.	.	.	.	.	.	.	.	C	16.58	3.162809	0.57368	.	.	ENSG00000136478	ENST00000258991	T	0.57107	0.42	6.07	6.07	0.98685	Pleckstrin homology domain (1);	0.038568	0.85682	D	0.000000	T	0.74574	0.3734	M	0.77313	2.365	0.80722	D	1	D;D	0.62365	0.991;0.99	D;D	0.66497	0.944;0.943	T	0.75181	-0.3408	10	0.72032	D	0.01	-23.4724	20.6593	0.99626	0.0:1.0:0.0:0.0	.	551;551	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	I	551	ENSP00000258991:M551I	ENSP00000258991:M551I	M	-	3	0	TEX2	59626179	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.381000	0.79718	2.885000	0.99019	0.655000	0.94253	ATG		0.383	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		6	56	1	0	5.9392e-07	1	6.66645e-07	6	56					A	62272447	C	A	62272447	3	1	31	1	0	0	0	0	1	0	0	0	15796	826	29	2	1791	2	TEX2	17	62272447	Missense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	10370737	62272447	18922763	69	3063										
SGSH	6448	broad.mit.edu	37	chr17	78184304	78184304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	agagagcttctcctccaggaCgccgtcgggggcgcacaccc	13	16	1	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:78184304C>T	ENST00000326317.6	-	8	1542	c.1456G>A	c.(1456-1458)Gtc>Atc	p.V486I	SGSH_ENST00000534910.1_Missense_Mutation_p.V283I	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	486			V -> F (in MPS3A). {ECO:0000269|PubMed:11182930}.		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)			TCCTCCAGGACGCCGTCGGGG	0.652																																						ENST00000326317.6																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	GRCh37	CM002403	SGSH	M		c.(1456-1458)Gtc>Atc		N-sulfoglucosamine sulfohydrolase							24	27	26					17																	78184304		2198	4299	6497	SO:0001583	missense	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78184304C>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.1456G>A	17.37:g.78184304C>T	ENSP00000314606:p.Val486Ile		Somatic				SGSH_ENST00000534910.1_Missense_Mutation_p.V283I	p.V486I	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)		8	1542	-	all_neural(118;0.0952)		486		V -> F (in MPS3A).			A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	c.1456G>A	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001851	0.93227	.	.	ENSG00000181523	ENST00000326317;ENST00000534910	D;D	0.82167	-1.58;-1.58	4.89	4.89	0.63831	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.92126	0.7504	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92813	0.6266	10	0.49607	T	0.09	-45.5809	17.6367	0.88124	0.0:1.0:0.0:0.0	.	486	P51688	SPHM_HUMAN	I	486;283	ENSP00000314606:V486I;ENSP00000437778:V283I	ENSP00000314606:V486I	V	-	1	0	SGSH	75798899	1.000000	0.71417	0.903000	0.35520	0.866000	0.49608	4.781000	0.62389	2.240000	0.73641	0.555000	0.69702	GTC		0.652	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		5	15	0	0	0	1	0	5	15					T	78184304	C	T	78184304	3	4	31	1	0	0	0	0	1	0	0	0	14236	536	19	1	56	1	SGSH	17	78184304	Missense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	15911857	78184304	3010906	70	3064										
ZNF792	126375	broad.mit.edu	37	chr19	35448925	35448925	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	cttgtagttgacagcgccctGataaggtctgttctcagagc	11	10	2	3			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr19:35448925G>C	ENST00000404801.1	-	4	2220	c.1834C>G	c.(1834-1836)Cag>Gag	p.Q612E	ZNF792_ENST00000605484.1_Missense_Mutation_p.Q545E	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	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)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACAGCGCCCTGATAAGGTCTG	0.488																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(1834-1836)Cag>Gag		zinc finger protein 792							97	74	82					19																	35448925		2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35448925G>C	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"Zinc fingers, C2H2-type", "-"	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1834C>G	19.37:g.35448925G>C	ENSP00000385099:p.Gln612Glu		Somatic				ZNF792_ENST00000605484.1_Missense_Mutation_p.Q545E	p.Q612E	NM_175872.4	NP_787068.3	WXS	Illumina GAIIx	Phase_I	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	2220	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		612					B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.1834C>G	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.262793	0.00262	.	.	ENSG00000180884	ENST00000404801	T	0.05855	3.38	2.35	-2.77	0.05877	.	.	.	.	.	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43702	-0.9375	9	0.35671	T	0.21	.	4.9345	0.13934	0.0:0.4498:0.327:0.2233	.	612	Q3KQV3	ZN792_HUMAN	E	612	ENSP00000385099:Q612E	ENSP00000385099:Q612E	Q	-	1	0	ZNF792	40140765	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.674000	0.01949	-0.530000	0.06349	-0.226000	0.12346	CAG		0.488	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		10	17	0	0	0	1	0	10	17					C	35448925	G	C	35448925	3	2	31	1	0	0	0	0	1	0	0	0	18179	1299	45	2	68	2	ZNF792	19	35448925	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08		35448925	23680058	71	3065										
MAG	4099	broad.mit.edu	37	chr19	35791110	35791110	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	catcgagggctcccacgtgaGcctgctctgtggggctgaca	14	13	1	2			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr19:35791110G>T	ENST00000392213.3	+	6	932	c.773G>T	c.(772-774)aGc>aTc	p.S258I	MAG_ENST00000361922.4_Missense_Mutation_p.S258I|MAG_ENST00000537831.2_Missense_Mutation_p.S233I	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	258	Ig-like C2-type 2.				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)			TCCCACGTGAGCCTGCTCTGT	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.(772-774)aGc>aTc		myelin associated glycoprotein							21	20	20					19																	35791110		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.chr19:35791110G>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.773G>T	19.37:g.35791110G>T	ENSP00000376048:p.Ser258Ile		Somatic				MAG_ENST00000392213.3_Missense_Mutation_p.S258I|MAG_ENST00000537831.2_Missense_Mutation_p.S233I	p.S258I	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)		6	923	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	258			Ig-like C2-type 2.		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.773G>T	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	g	6.458	0.452597	0.12283	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.68181	-0.31;-0.31;-0.31	4.31	3.28	0.37604	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.444524	0.25654	N	0.029191	T	0.46833	0.1413	L	0.37561	1.115	0.27440	N	0.953747	B;B;P	0.35656	0.259;0.043;0.514	B;B;B	0.28553	0.066;0.023;0.091	T	0.35375	-0.9791	10	0.32370	T	0.25	.	4.9506	0.14011	0.1087:0.0:0.6816:0.2097	.	295;258;258	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	I	295;258;258;233	ENSP00000355234:S258I;ENSP00000376048:S258I;ENSP00000440695:S233I	ENSP00000262624:S295I	S	+	2	0	MAG	40482950	1.000000	0.71417	0.859000	0.33776	0.067000	0.16453	2.542000	0.45744	1.031000	0.39867	0.457000	0.33378	AGC		0.677	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		7	9	1	0	0.00198382	1	0.00202056	7	9					T	35791110	G	T	35791110	3	4	31	1	0	0	0	0	1	0	0	0	9171	971	34	5	787	5	MAG	19	35791110	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	342185	35791110	23337873	72	3066										
SAMD4B	55095	broad.mit.edu	37	chr19	39868449	39868449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	acatccccagccagtttacaCgggtgatgggcaaaggtgag	13	10	0	2			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr19:39868449C>T	ENST00000314471.6	+	10	2464	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	SAMD4B_ENST00000598913.1_Missense_Mutation_p.R477W|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	477					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)			CCAGTTTACACGGGTGATGGG	0.592																																						ENST00000314471.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15						c.(1429-1431)Cgg>Tgg		sterile alpha motif domain containing 4B							32	32	32					19																	39868449		2196	4283	6479	SO:0001583	missense	55095						protein binding	g.chr19:39868449C>T		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.1429C>T	19.37:g.39868449C>T	ENSP00000317224:p.Arg477Trp		Somatic				SAMD4B_ENST00000598913.1_Missense_Mutation_p.R477W|SAMD4B_ENST00000596368.1_Intron	p.R477W	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)		10	2464	+	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)		477					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.1429C>T	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895525	0.72639	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	4.72	4.72	0.59763	Smaug, pseudo-HEAT analogous topology (1);	0.000000	0.85682	D	0.000000	T	0.75140	0.3809	M	0.72894	2.215	0.48185	D	0.999601	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.77427	-0.2592	9	0.87932	D	0	.	10.2994	0.43644	0.1966:0.8034:0.0:0.0	.	477;477	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	W	477	.	ENSP00000317224:R477W	R	+	1	2	SAMD4B	44560289	0.986000	0.35501	1.000000	0.80357	0.996000	0.88848	1.280000	0.33202	2.449000	0.82847	0.467000	0.42956	CGG		0.592	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		21	51	0	0	0	1	0	21	51					T	39868449	C	T	39868449	3	4	31	1	0	0	0	0	1	0	0	0	13837	527	19	1	1451	1	SAMD4B	19	39868449	Missense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	4077339	39868449	19260534	73	3067										
FCGBP	8857	broad.mit.edu	37	chr19	40374023	40374023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	gctgtgttcctggcacaccaCgactttacccacatggcacg	9	15	0	0	rs561293450	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr19:40374023C>T	ENST00000221347.6	-	26	12062	c.12055G>A	c.(12055-12057)Gtg>Atg	p.V4019M	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4019	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGCACACCACGACTTTACCC	0.642													C|||	36	0.0071885	0.0121	0.0029	5008	,	,		23567	0.004		0.0119	False		,,,				2504	0.002					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.(12055-12057)Gtg>Atg		Fc fragment of IgG binding protein							13	14	13					19																	40374023		2141	4205	6346	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40374023C>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.12055G>A	19.37:g.40374023C>T	ENSP00000221347:p.Val4019Met		Somatic					p.V4019M	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)		26	12062	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4019			Cys-rich.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12055G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	6.436	0.448534	0.12223	.	.	ENSG00000090920	ENST00000221347	T	0.06608	3.28	2.99	-5.98	0.02220	von Willebrand factor, type C (1);	.	.	.	.	T	0.03520	0.0101	L	0.31476	0.935	0.09310	N	1	B	0.29766	0.256	B	0.14578	0.011	T	0.30060	-0.9991	9	0.34782	T	0.22	.	6.2908	0.21059	0.0:0.3427:0.2739:0.3834	.	4019	Q9Y6R7	FCGBP_HUMAN	M	4019	ENSP00000221347:V4019M	ENSP00000221347:V4019M	V	-	1	0	FCGBP	45065863	0.000000	0.05858	0.010000	0.14722	0.077000	0.17291	-1.245000	0.02899	-1.918000	0.01072	-0.680000	0.03767	GTG		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		3	18	0	0	0	1	0	3	18					T	40374023	C	T	40374023	3	4	31	1	0	0	0	0	1	0	0	0	5786	536	19	1	4206	1	FCGBP	19	40374023	Missense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	505574	40374023	18754960	74	3068										
LRRC4B	94030	broad.mit.edu	37	chr19	51022478	51022478	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	tcgatggggttgttccgcagCcagagctcccgcagcttgga	14	12	0	1			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr19:51022478C>T	ENST00000599957.1	-	3	689	c.492G>A	c.(490-492)tgG>tgA	p.W164*	LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.W164*			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	164					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGTTCCGCAGCCAGAGCTCCC	0.652																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(490-492)tgG>tgA		leucine rich repeat containing 4B							58	64	62					19																	51022478		2202	4300	6502	SO:0001587	stop_gained	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51022478C>T	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.492G>A	19.37:g.51022478C>T	ENSP00000471502:p.Trp164*		Somatic				LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.W164*	p.W164*			WXS	Illumina GAIIx	Phase_I	Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	689	-		all_neural(266;0.131)	164					Q3ZCQ4|Q58F20	Nonsense_Mutation	SNP	ENST00000599957.1	37	c.492G>A	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	C	35	5.503246	0.96371	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	.	.	.	3.96	3.96	0.45880	.	0.000000	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	13.9104	0.63864	0.0:1.0:0.0:0.0	.	.	.	.	X	164	.	ENSP00000373853:W164X	W	-	3	0	LRRC4B	55714290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.645000	0.83430	2.235000	0.73313	0.491000	0.48974	TGG		0.652	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		40	53	0	0	0	1	0	40	53					T	51022478	C	T	51022478	4	4	31	1	0	0	0	0	0	1	0	0	9016	740	26	3	1653	3	LRRC4B	19	51022478	Nonsense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	10648455	51022478	8106505	75	3069										
PROKR2	128674	broad.mit.edu	37	chr20	5282948	5282948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	acacagtggggaagaagtcaCgaacgatggtgaaaccgtag	14	7	1	2			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr20:5282948C>T	ENST00000217270.3	-	2	892	c.893G>A	c.(892-894)cGt>cAt	p.R298H	PROKR2_ENST00000546004.1_Missense_Mutation_p.R298H	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	298					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						GAAGAAGTCACGAACGATGGT	0.562										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.(892-894)cGt>cAt		prokineticin receptor 2							160	119	133					20																	5282948		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5282948C>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.893G>A	20.37:g.5282948C>T	ENSP00000217270:p.Arg298His	HNSCC(71;0.22)	Somatic				PROKR2_ENST00000217270.3_Missense_Mutation_p.R298H	p.R298H			WXS	Illumina GAIIx	Phase_I	Q8NFJ6	PKR2_HUMAN			3	1139	-			298					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.893G>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842118	0.91197	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.72505	-0.66;-0.66	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82356	0.5019	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79162	-0.1917	10	0.13108	T	0.6	.	15.9064	0.79433	0.0:1.0:0.0:0.0	.	298	Q8NFJ6	PKR2_HUMAN	H	298	ENSP00000440790:R298H;ENSP00000217270:R298H	ENSP00000217270:R298H	R	-	2	0	PROKR2	5230948	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.346000	0.79347	2.370000	0.80446	0.655000	0.94253	CGT		0.562	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		42	22	0	0	0	1	0	42	22					T	5282948	C	T	5282948	3	4	31	1	0	0	0	0	1	0	0	0	12565	536	19	1	264	1	PROKR2	20	5282948	Missense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08		5282948	57742572	76	3070										
SSTR4	6754	broad.mit.edu	37	chr20	23016994	23016994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	tgaccagccttgatgccaccGtcaaccacgtgtcccttatc	7	16	1	2	rs563434094		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr20:23016994G>A	ENST00000255008.3	+	1	938	c.874G>A	c.(874-876)Gtc>Atc	p.V292I	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	292					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGATGCCACCGTCAACCACGT	0.567													G|||	1	0.000199681	0	0	5008	,	,		18575	0		0	False		,,,				2504	0.001				Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(874-876)Gtc>Atc		somatostatin receptor 4							207	207	207					20																	23016994		2203	4300	6503	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016994G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.874G>A	20.37:g.23016994G>A	ENSP00000255008:p.Val292Ile		Somatic				RP4-753D10.3_ENST00000440921.1_RNA	p.V292I	NM_001052.2	NP_001043.2	WXS	Illumina GAIIx	Phase_I	P31391	SSR4_HUMAN			1	938	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		292					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.874G>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	0.554	-0.848060	0.02651	.	.	ENSG00000132671	ENST00000255008	T	0.37058	1.22	3.36	-1.03	0.10102	GPCR, rhodopsin-like superfamily (1);	0.356618	0.22175	N	0.063583	T	0.19565	0.0470	N	0.21324	0.655	0.09310	N	1	B	0.18610	0.029	B	0.17098	0.017	T	0.14615	-1.0466	10	0.29301	T	0.29	.	7.6428	0.28303	0.5113:0.0:0.4887:0.0	.	292	P31391	SSR4_HUMAN	I	292	ENSP00000255008:V292I	ENSP00000255008:V292I	V	+	1	0	SSTR4	22964994	0.006000	0.16342	0.176000	0.23000	0.176000	0.22953	0.357000	0.20199	-0.449000	0.07117	-0.742000	0.03525	GTC		0.567	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			46	21	0	0	0	1	0	46	21					A	23016994	G	A	23016994	3	1	31	1	0	0	0	0	1	0	0	0	15215	1145	40	1	876	1	SSTR4	20	23016994	Missense_Mutation	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	17734046	23016994	40008526	77	3071										
NFATC2	4773	broad.mit.edu	37	chr20	50139907	50139907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	gccacaggggggtacccagcCggggagccgtggtcctgggg	20	12	0	0			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr20:50139907C>T	ENST00000396009.3	-	2	1092	c.873G>A	c.(871-873)ccG>ccA	p.P291P	NFATC2_ENST00000610033.1_Silent_p.P72P|NFATC2_ENST00000609943.1_Silent_p.P271P|NFATC2_ENST00000609507.1_Silent_p.P72P|NFATC2_ENST00000371564.3_Silent_p.P291P|NFATC2_ENST00000414705.1_Silent_p.P271P	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	291					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)					GGTACCCAGCCGGGGAGCCGT	0.697																																						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.(871-873)ccG>ccA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							8	10	9					20																	50139907		2126	4183	6309	SO:0001819	synonymous_variant	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.chr20:50139907C>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.873G>A	20.37:g.50139907C>T			Somatic				NFATC2_ENST00000414705.1_Silent_p.P271P|NFATC2_ENST00000396009.3_Silent_p.P291P	p.P291P	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	WXS	Illumina GAIIx	Phase_I	Q13469	NFAC2_HUMAN			2	1092	-	Hepatocellular(150;0.248)		291					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.873G>A	CCDS13437.1																																																																																				0.697	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		16	17	0	0	0	1	0	16	17					T	50139907	C	T	50139907	2	4	31	1	0	0	0	0	0	0	0	1	10371	639	23	1		1	NFATC2	20	50139907	Silent	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	27122913	50139907	12885613	78	3072										
SS18L1	26039	broad.mit.edu	37	chr20	60736500	60736500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	tgttgcctgcagccgcccacGcagaacatgaacctgggccc	11	16	0	2			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr20:60736500G>A	ENST00000331758.3	+	4	266	c.240G>A	c.(238-240)acG>acA	p.T80T	SS18L1_ENST00000421564.1_Silent_p.T80T|SS18L1_ENST00000370848.4_Silent_p.T83T	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	80	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1. {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)			AGCCGCCCACGCAGAACATGA	0.622			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.(238-240)acG>acA		synovial sarcoma translocation gene on chromosome 18-like 1							30	36	34					20																	60736500		2203	4299	6502	SO:0001819	synonymous_variant	26039				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore		g.chr20:60736500G>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.240G>A	20.37:g.60736500G>A			Somatic				SS18L1_ENST00000421564.1_Silent_p.T80T|SS18L1_ENST00000370848.4_Silent_p.T83T	p.T80T	NM_198935.1	NP_945173.1	WXS	Illumina GAIIx	Phase_I	O75177	CREST_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		4	266	+	Breast(26;3.97e-09)		80			N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Silent	SNP	ENST00000331758.3	37	c.240G>A	CCDS13491.1																																																																																				0.622	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			27	52	0	0	0	1	0	27	52					A	60736500	G	A	60736500	2	1	31	1	0	0	0	0	0	0	0	1	15191	1074	38	1		1	SS18L1	20	60736500	Silent	SNP	G	TCGA-N8-A4PQ-01A-11D-A28R-08	10596593	60736500	2289020	79	3073										
SHOX	6473	broad.mit.edu	37	chrX	601571	601571	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	ccaaggtttggttccagaacCggagagccaagtgccgcaaa	12	11	0	2			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chrX:601571C>A	ENST00000554971.1	+	3	593	c.502C>A	c.(502-504)Cgg>Agg	p.R168R	SHOX_ENST00000381575.1_Silent_p.R168R|SHOX_ENST00000381578.1_Silent_p.R168R|SHOX_ENST00000334060.3_Silent_p.R168R			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)			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)				GTTCCAGAACCGGAGAGCCAA	0.592																																					Ovarian(95;18 1419 12424 14056 28266)	ENST00000381578.1																			0				endometrium(3)|lung(9)|prostate(1)	13	GRCh37	CM042777	SHOX	M	rs137852557	c.(502-504)Cgg>Agg		short stature homeobox							150	160	156					X																	601571		2203	4296	6499	SO:0001819	synonymous_variant	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:601571C>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.502C>A	X.37:g.601571C>A			Somatic				SHOX_ENST00000334060.3_Silent_p.R168R|SHOX_ENST00000554971.1_Silent_p.R168R|SHOX_ENST00000381575.1_Silent_p.R168R	p.R168R	NM_000451.3	NP_000442.1	WXS	Illumina GAIIx	Phase_I	O15266	SHOX_HUMAN			4	1193	+		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	Silent	SNP	ENST00000554971.1	37	c.502C>A	CCDS14107.1																																																																																				0.592	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		5	74	1	0	0.0215528	1	0.0217505	5	74					A	601571	C	A	601571	2	1	31	1	0	0	0	0	0	0	0	1	14303	643	23	5		5	SHOX	23	601571	Silent	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08		601571	154668989	80	3074										
FOXR2	139628	broad.mit.edu	37	chrX	55650343	55650343	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.075	6	1	0.858747447243022	2.86249149081007	0.190832766054005	0.148606811145511	0.605042016806723	0	ctcagaagaggagacccagtCctgatggagatggtcctccc	12	12	1	5	rs142979047	byFrequency	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chrX:55650343C>A	ENST00000339140.3	+	1	511	c.199C>A	c.(199-201)Cct>Act	p.P67T		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	67					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						GAGACCCAGTCCTGATGGAGA	0.552																																						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.(199-201)Cct>Act		forkhead box R2							88	80	83					X																	55650343		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:55650343C>A	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.199C>A	X.37:g.55650343C>A	ENSP00000427329:p.Pro67Thr		Somatic					p.P67T	NM_198451.3	NP_940853.1	WXS	Illumina GAIIx	Phase_I	Q6PJQ5	FOXR2_HUMAN			1	511	+			67						Missense_Mutation	SNP	ENST00000339140.3	37	c.199C>A	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	C	9.328	1.059750	0.19987	.	.	ENSG00000189299	ENST00000339140	D	0.93953	-3.32	3.56	0.516	0.17019	.	14.661200	0.00166	U	0.000005	D	0.90363	0.6984	L	0.58810	1.83	0.09310	N	1	B	0.33883	0.43	B	0.30105	0.111	T	0.76777	-0.2834	10	0.52906	T	0.07	.	3.5049	0.07686	0.4439:0.422:0.0:0.1341	.	67	Q6PJQ5	FOXR2_HUMAN	T	67	ENSP00000427329:P67T	ENSP00000427329:P67T	P	+	1	0	FOXR2	55667068	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.952000	0.03881	-0.013000	0.14199	0.600000	0.82982	CCT		0.552	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		25	36	1	0	1.1804e-14	1	1.36677e-14	25	36					A	55650343	C	A	55650343	3	1	31	1	0	0	0	0	1	0	0	0	6040	855	30	2	201	2	FOXR2	23	55650343	Missense_Mutation	SNP	C	TCGA-N8-A4PQ-01A-11D-A28R-08	55048772	55650343	99620217	81	3075										
PEX14	5195	broad.mit.edu	37	chr1	10659423	10659423	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	acctcatatctcagccatacAgtaagtcacccgctcaaact	4	15	4	0			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:10659423A>G	ENST00000356607.4	+	4	378	c.298A>G	c.(298-300)Agt>Ggt	p.S100G	PEX14_ENST00000538836.1_Splice_Site_p.S36G	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	100					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGCCATACAGTAAGTCACC	0.557																																						ENST00000356607.4																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13						c.e4+1		peroxisomal biogenesis factor 14							95	86	89					1																	10659423		2203	4300	6503	SO:0001630	splice_region_variant	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10659423A>G	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.298+1A>G	1.37:g.10659423A>G			Somatic				PEX14_ENST00000538836.1_Splice_Site_p.S36_splice	p.S100_splice	NM_004565.2	NP_004556.1	WXS	Illumina GAIIx	Phase_I	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	4	378	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	100					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Splice_Site	SNP	ENST00000356607.4	37	c.298_splice	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134690	0.56828	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.47869	0.83;1.8	5.81	5.81	0.92471	Peroxisome membrane anchor protein Pex14p, N-terminal (1);	0.129503	0.64402	D	0.000001	T	0.50701	0.1631	M	0.65498	2.005	0.58432	D	0.999999	B	0.28128	0.201	B	0.31946	0.138	T	0.47522	-0.9111	10	0.36615	T	0.2	.	16.1713	0.81820	1.0:0.0:0.0:0.0	.	100	O75381	PEX14_HUMAN	G	100;36	ENSP00000349016:S100G;ENSP00000444877:S36G	ENSP00000349016:S100G	S	+	1	0	PEX14	10582010	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.118000	0.89577	2.221000	0.72209	0.528000	0.53228	AGT		0.557	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1		Missense_Mutation	16	74	0	0	0	1	0	16	74					G	10659423	A	G	10659423	5	3	32	1	0	0	0	0	0	0	1	0	11751	202	7	4	312	4	PEX14	1	10659423	Splice_Site	SNP	A	TCGA-N8-A56S-01A-11D-A28R-08		10659423	238591198	1	3076										
PRAMEF10	343071	broad.mit.edu	37	chr1	12952782	12952782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	gaagtccactttctcagatgGccatgagccacagttagggc	11	11	1	2			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:12952782G>A	ENST00000235347.4	-	4	1469	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	464					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)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCAGATGGCCATGAGCCA	0.517																																						ENST00000235347.4																			0				NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(1390-1392)Cca>Tca		PRAME family member 10							51	55	53					1																	12952782		2022	4201	6223	SO:0001583	missense	343071							g.chr1:12952782G>A	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"-"	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.1390C>T	1.37:g.12952782G>A	ENSP00000235347:p.Pro464Ser		Somatic					p.P464S	NM_001039361.3	NP_001034450.2	WXS	Illumina GAIIx	Phase_I	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1469	-	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)	464					Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	c.1390C>T	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	g	7.435	0.639440	0.14386	.	.	ENSG00000187545	ENST00000235347	T	0.01228	5.14	1.02	-1.13	0.09775	.	9.680830	0.00166	N	0.000000	T	0.01558	0.0050	L	0.29908	0.895	0.09310	N	1	P	0.38395	0.629	B	0.40506	0.331	T	0.44982	-0.9292	10	0.16420	T	0.52	.	4.4268	0.11507	0.0:0.0:0.5329:0.4671	.	464	O60809	PRA10_HUMAN	S	464	ENSP00000235347:P464S	ENSP00000235347:P464S	P	-	1	0	PRAMEF10	12875369	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-0.399000	0.07250	-0.275000	0.09219	0.194000	0.17425	CCA		0.517	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		30	7	0	0	0	1	0	30	7					A	12952782	G	A	12952782	3	1	32	1	0	0	0	0	1	0	0	0	12438	1203	42	3	38	3	PRAMEF10	1	12952782	Missense_Mutation	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08	2293359	12952782	236297839	2	3077										
DAB1	1600	broad.mit.edu	37	chr1	57535038	57535038	+	Frame_Shift_Del	DEL	A	A	-													0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	caagcaattttatacctgatAaatgttttcttccgtttcgg							TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:57535038delA	ENST00000371231.1	-	7	692	c.658delT	c.(658-660)tatfs	p.Y220fs	DAB1_ENST00000371234.4_Frame_Shift_Del_p.Y220fs|DAB1_ENST00000371236.2_Frame_Shift_Del_p.Y220fs|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_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)atfs		Dab, reelin signal transducer, homolog 1 (Drosophila)							167	151	157					1																	57535038		2203	4300	6503	SO:0001589	frameshift_variant	1600				cell differentiation|nervous system development			g.chr1:57535038delA	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.658delT	1.37:g.57535038delA	ENSP00000360275:p.Tyr220fs		Somatic				DAB1_ENST00000371234.4_Frame_Shift_Del_p.Y220fs|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371231.1_Frame_Shift_Del_p.Y220fs|DAB1_ENST00000485760.1_5'UTR	p.Y220fs			WXS	Illumina GAIIx	Phase_I	O75553	DAB1_HUMAN			8	921	-			220					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Frame_Shift_Del	DEL	ENST00000371231.1	37	c.658delT																																																																																					0.423	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		47	43						47	43	---	---	---	---	-	57535038	A	-	57535038	7	5	32	1	0	1	0	1	0	0	0	0	4219	362	13	0	1037	0	DAB1	1	57535038	Frame_Shift_Del	DEL	A	TCGA-N8-A56S-01A-11D-A28R-08	44582256	57535038	191715583	3	3078										
CAD	790	broad.mit.edu	37	chr2	27449457	27449457	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	cctggccagtaaggccacagGttatccactggcttatgtgg	12	11	0	0			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:27449457G>T	ENST00000403525.1	+	13	2051	c.1907G>T	c.(1906-1908)gGt>gTt	p.G636V	CAD_ENST00000264705.4_Missense_Mutation_p.G699V			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)					AAGGCCACAGGTTATCCACTG	0.522																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(2095-2097)gGt>gTt		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						80	79	80					2																	27449457		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.chr2:27449457G>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.1907G>T	2.37:g.27449457G>T	ENSP00000384510:p.Gly636Val		Somatic				CAD_ENST00000403525.1_Missense_Mutation_p.G636V	p.G699V	NM_004341.3	NP_004332.2	WXS	Illumina GAIIx	Phase_I	P27708	PYR1_HUMAN			14	2258	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		699			ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.2096G>T		.	.	.	.	.	.	.	.	.	.	G	18.71	3.681768	0.68042	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.99567	-6.18;-6.18	5.06	5.06	0.68205	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);	0.049855	0.85682	N	0.000000	D	0.99869	0.9938	H	0.99906	4.925	0.80722	D	1	D;B	0.89917	1.0;0.293	D;B	0.97110	1.0;0.212	D	0.96048	0.9029	10	0.87932	D	0	-2.1107	17.0413	0.86490	0.0:0.0:1.0:0.0	.	636;699	F8VPD4;P27708	.;PYR1_HUMAN	V	699;636	ENSP00000264705:G699V;ENSP00000384510:G636V	ENSP00000264705:G699V	G	+	2	0	CAD	27302961	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.305000	0.96197	2.358000	0.79984	0.485000	0.47835	GGT		0.522	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			34	43	1	0	1.45844e-13	1	1.6782e-13	34	43					T	27449457	G	T	27449457	3	4	32	1	0	0	0	0	1	0	0	0	2567	1261	44	5	2150	5	CAD	2	27449457	Missense_Mutation	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08		27449457	215749916	4	3079										
MPV17	4358	broad.mit.edu	37	chr2	27535950	27535950	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	ctccaccagctgctgtgagaTaatgtcacccaggcccatca	8	15	2	1			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:27535950T>C	ENST00000380044.1	-	3	152	c.97A>G	c.(97-99)Atc>Gtc	p.I33V	MPV17_ENST00000402722.1_Intron|MPV17_ENST00000403262.2_Missense_Mutation_p.I33V|MPV17_ENST00000405983.1_Missense_Mutation_p.I48V|MPV17_ENST00000233545.2_Missense_Mutation_p.I33V|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000402310.1_Missense_Mutation_p.I33V|MPV17_ENST00000405076.1_Missense_Mutation_p.I33V	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	33					cellular response to reactive oxygen species (GO:0034614)|glomerular basement membrane development (GO:0032836)|homeostatic process (GO:0042592)|inner ear development (GO:0048839)|mitochondrial genome maintenance (GO:0000002)|reactive oxygen species metabolic process (GO:0072593)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGTGAGATAATGTCACCC	0.592																																						ENST00000380044.1																			0				lung(4)	4						c.(97-99)Atc>Gtc		MpV17 mitochondrial inner membrane protein							91	91	91					2																	27535950		2203	4300	6503	SO:0001583	missense	4358				cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane		g.chr2:27535950T>C		CCDS1748.1	2p23.3	2008-02-05	2006-05-12		ENSG00000115204	ENSG00000115204			7224	protein-coding gene	gene with protein product	"glomerulosclerosis"	137960	"MpV17 transgene, murine homolog, glomerulosclerosis"			8281143, 16582910	Standard	XM_005264326		Approved	SYM1	uc002rjs.3	P39210	OTTHUMG00000097074	ENST00000380044.1:c.97A>G	2.37:g.27535950T>C	ENSP00000369383:p.Ile33Val		Somatic				MPV17_ENST00000405076.1_Missense_Mutation_p.I33V|MPV17_ENST00000233545.2_Missense_Mutation_p.I33V|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000402310.1_Missense_Mutation_p.I33V|MPV17_ENST00000405983.1_Missense_Mutation_p.I48V|MPV17_ENST00000402722.1_Intron|MPV17_ENST00000403262.2_Missense_Mutation_p.I33V	p.I33V	NM_002437.4	NP_002428.1	WXS	Illumina GAIIx	Phase_I	P39210	MPV17_HUMAN			3	152	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		33					D6W555|Q53SY2|Q96B08	Missense_Mutation	SNP	ENST00000380044.1	37	c.97A>G	CCDS1748.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.610295	0.28712	.	.	ENSG00000115204	ENST00000402310;ENST00000233545;ENST00000380044;ENST00000405983;ENST00000405076;ENST00000403262;ENST00000428910	D;D;D;D;D;D;D	0.91407	-2.06;-2.49;-2.49;-2.45;-2.84;-2.01;-1.89	5.37	4.22	0.49857	.	0.058685	0.64402	N	0.000003	D	0.84197	0.5419	L	0.41710	1.295	0.80722	D	1	B;B	0.24043	0.002;0.096	B;B	0.25884	0.007;0.064	T	0.76780	-0.2833	10	0.25106	T	0.35	.	7.6469	0.28325	0.0:0.0931:0.0:0.9069	.	33;33	P39210;B5MC53	MPV17_HUMAN;.	V	33;33;33;48;33;33;7	ENSP00000383955:I33V;ENSP00000233545:I33V;ENSP00000369383:I33V;ENSP00000384586:I48V;ENSP00000385175:I33V;ENSP00000385671:I33V;ENSP00000405235:I7V	ENSP00000233545:I33V	I	-	1	0	MPV17	27389454	0.997000	0.39634	0.798000	0.32154	0.993000	0.82548	2.089000	0.41672	1.067000	0.40740	0.496000	0.49642	ATC		0.592	MPV17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214193.1	NM_002437		37	55	0	0	0	1	0	37	55					C	27535950	T	C	27535950	3	2	32	1	0	0	0	0	1	0	0	0	9754	1406	49	4	457	4	MPV17	2	27535950	Missense_Mutation	SNP	T	TCGA-N8-A56S-01A-11D-A28R-08	86493	27535950	215663423	5	3080										
GCC2	9648	broad.mit.edu	37	chr2	109087815	109087815	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	ggttcaaatgaaagttctctCtgaagacaaagaagtattgt	9	5	3	4			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:109087815C>G	ENST00000309863.6	+	6	2744	c.2030C>G	c.(2029-2031)tCt>tGt	p.S677C		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	677					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						AAAGTTCTCTCTGAAGACAAA	0.333																																						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.(2029-2031)tCt>tGt		GRIP and coiled-coil domain containing 2							94	114	107					2																	109087815		2202	4298	6500	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.chr2:109087815C>G	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.2030C>G	2.37:g.109087815C>G	ENSP00000307939:p.Ser677Cys		Somatic					p.S677C	NM_181453.3	NP_852118.1	WXS	Illumina GAIIx	Phase_I	Q8IWJ2	GCC2_HUMAN			6	2744	+			677					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.2030C>G	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	C	0.189	-1.054751	0.01965	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.33216	1.42	5.62	2.78	0.32641	.	0.801903	0.11797	N	0.528527	T	0.26159	0.0638	L	0.57536	1.79	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.36817	-0.9732	10	0.66056	D	0.02	.	1.7594	0.02989	0.3133:0.3705:0.1926:0.1236	.	677	Q8IWJ2	GCC2_HUMAN	C	677;640;422	ENSP00000307939:S677C	ENSP00000307939:S677C	S	+	2	0	GCC2	108454247	0.000000	0.05858	0.040000	0.18447	0.069000	0.16628	-0.032000	0.12266	0.808000	0.34231	0.650000	0.86243	TCT		0.333	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		57	99	0	0	0	1	0	57	99					G	109087815	C	G	109087815	3	3	32	1	0	0	0	0	1	0	0	0	6294	913	32	2	2052	2	GCC2	2	109087815	Missense_Mutation	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08	81551865	109087815	134111558	6	3081										
TTN	7273	broad.mit.edu	37	chr2	179411904	179411904	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	cacccaaagaattgtattacGttctttcttctcaacccagt	4	12	3	1	rs541040798	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:179411904G>A	ENST00000591111.1	-	290	89649	c.89425C>T	c.(89425-89427)Cgt>Tgt	p.R29809C	RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28882C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22385C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R31450C|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22510C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22577C|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29809	Fibronectin type-III 117. {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.R22510C(1)|p.R28880C(1)|p.R28882C(1)|p.R22577C(1)|p.R22385C(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)			ATTGTATTACGTTCTTTCTTC	0.423													G|||	2	0.000399361	0	0	5008	,	,		18672	0		0	False		,,,				2504	0.002					ENST00000589042.1																			5	Substitution - Missense(5)	p.R22510C(1)|p.R28880C(1)|p.R28882C(1)|p.R22577C(1)|p.R22385C(1)	urinary_tract(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.(94348-94350)Cgt>Tgt		titin							268	266	266					2																	179411904		1914	4127	6041	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411904G>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.89425C>T	2.37:g.179411904G>A	ENSP00000465570:p.Arg29809Cys		Somatic				TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28882C|TTN_ENST00000342175.6_Missense_Mutation_p.R22577C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29809C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22510C|TTN_ENST00000460472.2_Missense_Mutation_p.R22385C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA	p.R31450C	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)		340	94572	-			29809			Fibronectin type-III 129.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.94348C>T		.	.	.	.	.	.	.	.	.	.	G	14.20	2.465124	0.43839	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	6.03	5.15	0.70609	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73729	0.3624	M	0.86502	2.82	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.67231	0.95;0.95;0.95;0.95	T	0.78833	-0.2048	9	0.87932	D	0	.	12.345	0.55116	0.0:0.1285:0.7377:0.1338	.	22385;22510;22577;29809	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	28882;22385;22577;22510;22382	ENSP00000343764:R28882C;ENSP00000434586:R22385C;ENSP00000340554:R22577C;ENSP00000352154:R22510C	ENSP00000340554:R22577C	R	-	1	0	TTN	179120150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.351000	0.59398	1.549000	0.49425	0.655000	0.94253	CGT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		95	135	0	0	0	1	0	95	135					A	179411904	G	A	179411904	3	1	32	1	0	0	0	0	1	0	0	0	16750	1145	40	1	13723	1	TTN	2	179411904	Missense_Mutation	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08	70324089	179411904	63787469	7	3082										
NBEAL2	23218	broad.mit.edu	37	chr3	47050735	47050735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	agcagccagttcgcgcggaaGctgtggcggtcctcgcggcg	17	13	0	0			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr3:47050735G>A	ENST00000450053.3	+	54	8369	c.8190G>A	c.(8188-8190)aaG>aaA	p.K2730K	NBEAL2_ENST00000383740.2_Silent_p.K979K|NBEAL2_ENST00000292309.5_Silent_p.K2546K	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2730					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)		TCGCGCGGAAGCTGTGGCGGT	0.697																																						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.(8188-8190)aaG>aaA		neurobeachin-like 2							12	16	15					3																	47050735		2003	4144	6147	SO:0001819	synonymous_variant	23218						binding	g.chr3:47050735G>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.8190G>A	3.37:g.47050735G>A			Somatic				NBEAL2_ENST00000383740.2_Silent_p.K979K|NBEAL2_ENST00000292309.5_Silent_p.K2546K	p.K2730K	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)	54	8369	+		Acute lymphoblastic leukemia(5;0.0534)	2730					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.8190G>A	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.72|11.72	1.721413|1.721413	0.30503|0.30503	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000443829|ENST00000416683	.|.	.|.	.|.	4.98|4.98	1.93|1.93	0.25924|0.25924	.|.	.|.	.|.	.|.	.|.	T|T	0.45135|0.45135	0.1327|0.1327	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.32428|0.32428	-0.9907|-0.9907	4|4	.|.	.|.	.|.	.|.	3.6735|3.6735	0.08283|0.08283	0.281:0.0:0.5427:0.1763|0.281:0.0:0.5427:0.1763	.|.	.|.	.|.	.|.	T|N	1069|2018	.|.	.|.	A|S	+|+	1|2	0|0	NBEAL2|NBEAL2	47025739|47025739	0.952000|0.952000	0.32445|0.32445	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.066000|1.066000	0.30604|0.30604	1.086000|1.086000	0.41228|0.41228	0.561000|0.561000	0.74099|0.74099	GCT|AGC		0.697	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		6	5	0	0	0	1	0	6	5					A	47050735	G	A	47050735	2	1	32	1	0	0	0	0	0	0	0	1	10198	962	34	3		3	NBEAL2	3	47050735	Silent	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08		47050735	150971695	8	3083										
LPP	4026	broad.mit.edu	37	chr3	188327559	188327559	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	gaaccctcctgggatgtatcCagtcactggtcccaagaaga	10	12	1	2	rs200693649		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr3:188327559C>G	ENST00000312675.4	+	6	1286	c.1040C>G	c.(1039-1041)cCa>cGa	p.P347R	LPP_ENST00000448637.1_Missense_Mutation_p.P347R|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Missense_Mutation_p.P347R	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	347	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)		GGGATGTATCCAGTCACTGGT	0.522			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.(1039-1041)cCa>cGa		LIM domain containing preferred translocation partner in lipoma							42	42	42					3																	188327559		2203	4298	6501	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188327559C>G	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1040C>G	3.37:g.188327559C>G	ENSP00000318089:p.Pro347Arg		Somatic				LPP_ENST00000543006.1_Missense_Mutation_p.P347R|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Missense_Mutation_p.P347R	p.P347R	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	1286	+	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)	347			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.1040C>G	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	C	5.808	0.333335	0.11013	.	.	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	T;T;T;T	0.54675	1.91;0.56;0.56;1.5	6.17	3.12	0.35913	.	0.583430	0.17202	N	0.183091	T	0.45696	0.1355	L	0.47716	1.5	0.21355	N	0.999715	B;B	0.28584	0.216;0.121	B;B	0.34242	0.178;0.075	T	0.30650	-0.9971	10	0.10902	T	0.67	.	13.6839	0.62504	0.4634:0.5366:0.0:0.0	.	347;347	C9JUT4;Q93052	.;LPP_HUMAN	R	347;347;347;184	ENSP00000393602:P347R;ENSP00000318089:P347R;ENSP00000438891:P347R;ENSP00000393008:P184R	ENSP00000318089:P347R	P	+	2	0	LPP	189810253	0.570000	0.26651	0.580000	0.28601	0.288000	0.27193	0.978000	0.29488	1.584000	0.49913	0.655000	0.94253	CCA		0.522	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		33	56	0	0	0	1	0	33	56					G	188327559	C	G	188327559	3	3	32	1	0	0	0	0	1	0	0	0	8932	594	21	5	1054	5	LPP	3	188327559	Missense_Mutation	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08	141276824	188327559	9694871	9	3084										
RFC1	5981	broad.mit.edu	37	chr4	39304717	39304718	+	Frame_Shift_Del	DEL	TC	TC	-													0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	cctcattgcctgccatgccaTctacttcatccatgatgaga							TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr4:39304717_39304718delTC	ENST00000381897.1	-	16	2300_2301	c.2167_2168delGA	c.(2167-2169)gatfs	p.D723fs	RFC1_ENST00000349703.2_Frame_Shift_Del_p.D722fs	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	723					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCCATGCCATCTACTTCATCC	0.416																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(2167-2169)tfs		replication factor C (activator 1) 1, 145kDa																																				SO:0001589	frameshift_variant	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39304717_39304718delTC	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2167_2168delGA	4.37:g.39304717_39304718delTC	ENSP00000371321:p.Asp723fs		Somatic				RFC1_ENST00000349703.2_Frame_Shift_Del_p.D722fs	p.D723fs	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	WXS	Illumina GAIIx	Phase_I	P35251	RFC1_HUMAN			16	2300_2301	-			723					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Frame_Shift_Del	DEL	ENST00000381897.1	37	c.2167_2168delGA	CCDS56329.1																																																																																				0.416	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		16	30						16	30	---	---	---	---	-	39304718	TC	-	39304717	7	5	32	1	0	1	0	1	0	0	0	0	13259	1435	50	0	1318	0	RFC1	4	39304717	Frame_Shift_Del	DEL	TC	TCGA-N8-A56S-01A-11D-A28R-08		39304717	151849559	10	3085										
AGXT2	64902	broad.mit.edu	37	chr5	35035360	35035360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	tgtctatgttgtttgagtgcGccctggccatcagcatggcc	12	11	2	1	rs201921000	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:35035360G>A	ENST00000231420.6	-	5	748	c.548C>T	c.(547-549)gCg>gTg	p.A183V	AC010368.1_ENST00000390793.2_RNA	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	183					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	GTTTGAGTGCGCCCTGGCCAT	0.433													G|||	5	0.000998403	0	0	5008	,	,		19356	0.004		0	False		,,,				2504	0.001					ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(547-549)gCg>gTg		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						134	144	140					5																	35035360		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35035360G>A	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.548C>T	5.37:g.35035360G>A	ENSP00000231420:p.Ala183Val		Somatic					p.A183V	NM_031900.3	NP_114106.1	WXS	Illumina GAIIx	Phase_I	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	5	748	-	all_lung(31;4.52e-05)		183					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.548C>T	CCDS3908.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	14.02	2.412076	0.42817	.	.	ENSG00000113492	ENST00000231420	T	0.20881	2.04	6.06	4.2	0.49525	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.311274	0.34750	N	0.003716	T	0.08268	0.0206	N	0.21373	0.66	0.28699	N	0.904155	B;P;B	0.37663	0.046;0.604;0.262	B;B;B	0.25140	0.036;0.058;0.041	T	0.12426	-1.0548	10	0.15499	T	0.54	-17.4416	3.6635	0.08247	0.2193:0.2685:0.5122:0.0	.	91;183;183	B7Z3M3;E9PDL7;Q9BYV1	.;.;AGT2_HUMAN	V	183	ENSP00000231420:A183V	ENSP00000231420:A183V	A	-	2	0	AGXT2	35071117	0.987000	0.35691	0.980000	0.43619	0.471000	0.32888	4.062000	0.57492	2.871000	0.98454	0.655000	0.94253	GCG		0.433	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		19	80	0	0	0	1	0	19	80					A	35035360	G	A	35035360	3	1	32	1	0	0	0	0	1	0	0	0	405	1087	38	1	1036	1	AGXT2	5	35035360	Missense_Mutation	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08		35035360	145879900	11	3086										
NNT	23530	broad.mit.edu	37	chr5	43675666	43675666	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	ggaggctatggcaccacttcAacagctggtggaaaacccat	11	11	1	0			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:43675666A>C	ENST00000264663.5	+	18	2909	c.2688A>C	c.(2686-2688)tcA>tcC	p.S896S	NNT_ENST00000512996.2_Silent_p.S765S|NNT_ENST00000344920.4_Silent_p.S896S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	896					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)					GCACCACTTCAACAGCTGGTG	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.(2686-2688)tcA>tcC		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						95	88	90					5																	43675666		2203	4300	6503	SO:0001819	synonymous_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43675666A>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.2688A>C	5.37:g.43675666A>C			Somatic				NNT_ENST00000344920.4_Silent_p.S896S|NNT_ENST00000512996.2_Silent_p.S765S	p.S896S	NM_012343.3	NP_036475.3	WXS	Illumina GAIIx	Phase_I	Q13423	NNTM_HUMAN			18	2909	+	Lung NSC(6;2.58e-06)		896					Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	c.2688A>C	CCDS3949.1																																																																																				0.403	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		21	44	0	0	0	1	0	21	44					C	43675666	A	C	43675666	2	2	32	1	0	0	0	0	0	0	0	1	10519	117	5	4		4	NNT	5	43675666	Silent	SNP	A	TCGA-N8-A56S-01A-11D-A28R-08	8640306	43675666	137239594	12	3087										
MAP3K1	4214	broad.mit.edu	37	chr5	56178633	56178643	+	Frame_Shift_Del	DEL	CCCCATAGTTC	CCCCATAGTTC	-													0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	tcagcgtctcaggatgccctCcccatagttcctcagctgca					rs368673262		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:56178633_56178643delCCCCATAGTTC	ENST00000399503.3	+	14	3606_3616	c.3606_3616delCCCCATAGTTC	c.(3604-3618)ctccccatagttcctfs	p.PIVP1203fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1203					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGGATGCCCTCCCCATAGTTCCTCAGCTGCA	0.417																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(3604-3618)ctctfs		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56178633_56178643delCCCCATAGTTC	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3606_3616delCCCCATAGTTC	5.37:g.56178633_56178643delCCCCATAGTTC	ENSP00000382423:p.Pro1203fs		Somatic					p.LPIVP1202fs	NM_005921.1	NP_005912.1	WXS	Illumina GAIIx	Phase_I	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	3606_3616	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1202						Frame_Shift_Del	DEL	ENST00000399503.3	37	c.3606_3616delCCCCATAGTTC	CCDS43318.1																																																																																				0.417	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		18	32						18	32	---	---	---	---	-	56178643	CCCCATAGTTC	-	56178633	7	5	32	1	0	1	0	1	0	0	0	0	9252	842	30	0	3660	0	MAP3K1	5	56178633	Frame_Shift_Del	DEL	CCCCATAGTTC	TCGA-N8-A56S-01A-11D-A28R-08	12502967	56178633	124736627	13	3088										
PCDHA4	56144	broad.mit.edu	37	chr5	140188315	140188315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	tttcggtgcatgcggagagcGgcaaggtgtacgcgctgcag	17	9	0	1			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:140188315G>A	ENST00000530339.1	+	1	1543	c.1543G>A	c.(1543-1545)Ggc>Agc	p.G515S	PCDHA4_ENST00000356878.4_Missense_Mutation_p.G515S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G515S	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	515	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGAGAGCGGCAAGGTGTA	0.677																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1543-1545)Ggc>Agc									72	75	74					5																	140188315		2203	4300	6503	SO:0001583	missense	0							g.chr5:140188315G>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.1543G>A	5.37:g.140188315G>A	ENSP00000435300:p.Gly515Ser		Somatic				PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G515S|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G515S|PCDHA1_ENST00000394633.3_Intron	p.G515S	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	1543	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1543G>A	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	28.3	4.909888	0.92107	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	D;D;D	0.91407	-2.84;-2.84;-2.84	4.18	4.18	0.49190	Cadherin (5);Cadherin-like (1);	0.000000	0.36374	U	0.002630	D	0.97105	0.9054	H	0.97758	4.07	0.48571	D	0.999671	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.991;1.0;0.999	D	0.99026	1.0819	10	0.87932	D	0	.	16.9395	0.86213	0.0:0.0:1.0:0.0	.	515;515;515	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	S	515	ENSP00000423470:G515S;ENSP00000349344:G515S;ENSP00000435300:G515S	ENSP00000349344:G515S	G	+	1	0	PCDHA4	140168499	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.045000	0.71020	2.072000	0.62099	0.580000	0.79431	GGC		0.677	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		128	96	0	0	0	1	0	128	96					A	140188315	G	A	140188315	3	1	32	1	0	0	0	0	1	0	0	0	11535	1116	39	1	1545	1	PCDHA4	5	140188315	Missense_Mutation	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08	84009682	140188315	40726945	14	3089										
FAM71B	153745	broad.mit.edu	37	chr5	156589885	156589885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	atgcggaccggtgggaagacGctttctgattcttgtccccc	12	12	2	2	rs201677910		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:156589885G>A	ENST00000302938.4	-	2	1486	c.1391C>T	c.(1390-1392)gCg>gTg	p.A464V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	464						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)			GTGGGAAGACGCTTTCTGATT	0.512																																						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.(1390-1392)gCg>gTg		family with sequence similarity 71, member B							197	184	189					5																	156589885		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589885G>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1391C>T	5.37:g.156589885G>A	ENSP00000305596:p.Ala464Val		Somatic					p.A464V	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	1486	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	464					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1391C>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841831	0.51057	.	.	ENSG00000170613	ENST00000302938	T	0.17854	2.25	4.64	4.64	0.57946	.	1.325710	0.05504	N	0.558966	T	0.13798	0.0334	N	0.22421	0.69	0.22142	N	0.999337	B	0.32128	0.357	B	0.17979	0.02	T	0.13791	-1.0496	10	0.40728	T	0.16	-0.1825	13.7477	0.62885	0.0:0.0:1.0:0.0	.	464	Q8TC56	FA71B_HUMAN	V	464	ENSP00000305596:A464V	ENSP00000305596:A464V	A	-	2	0	FAM71B	156522463	0.173000	0.23056	0.908000	0.35775	0.038000	0.13279	2.586000	0.46119	2.500000	0.84329	0.655000	0.94253	GCG		0.512	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		94	72	0	0	0	1	0	94	72					A	156589885	G	A	156589885	3	1	32	1	0	0	0	0	1	0	0	0	5616	1087	38	1	430	1	FAM71B	5	156589885	Missense_Mutation	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08	16401570	156589885	24325375	15	3090										
CDHR2	54825	broad.mit.edu	37	chr5	176016580	176016580	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	ggctgcagttctccacaccgAaggaggaggtgggcgccaac	15	12	1	0			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:176016580A>G	ENST00000510636.1	+	24	3443	c.3169A>G	c.(3169-3171)Aag>Gag	p.K1057E	CDHR2_ENST00000506348.1_Missense_Mutation_p.K1057E|CDHR2_ENST00000261944.5_Missense_Mutation_p.K1057E	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1057	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						CTCCACACCGAAGGAGGAGGT	0.647																																						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.(3169-3171)Aag>Gag		cadherin-related family member 2							40	44	43					5																	176016580		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.chr5:176016580A>G	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.3169A>G	5.37:g.176016580A>G	ENSP00000424565:p.Lys1057Glu		Somatic				CDHR2_ENST00000261944.5_Missense_Mutation_p.K1057E|CDHR2_ENST00000506348.1_Missense_Mutation_p.K1057E	p.K1057E	NM_001171976.1	NP_001165447.1	WXS	Illumina GAIIx	Phase_I	Q9BYE9	CDHR2_HUMAN			24	3443	+			1057			Cadherin 9.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.3169A>G	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	a	6.866	0.529115	0.13127	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.54866	0.55;0.55;0.55	4.84	3.71	0.42584	Cadherin (1);	.	.	.	.	T	0.35537	0.0935	L	0.51422	1.61	0.09310	N	1	B	0.20368	0.044	B	0.19148	0.024	T	0.44019	-0.9355	9	0.02654	T	1	-28.9372	1.5785	0.02629	0.5024:0.0:0.2002:0.2973	.	1057	Q9BYE9	CDHR2_HUMAN	E	1057	ENSP00000424565:K1057E;ENSP00000261944:K1057E;ENSP00000421078:K1057E	ENSP00000261944:K1057E	K	+	1	0	CDHR2	175949186	0.991000	0.36638	0.477000	0.27303	0.002000	0.02628	3.046000	0.49846	1.821000	0.53095	0.444000	0.29173	AAG		0.647	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		16	46	0	0	0	1	0	16	46					G	176016580	A	G	176016580	3	3	32	1	0	0	0	0	1	0	0	0	3121	247	9	4	3259	4	CDHR2	5	176016580	Missense_Mutation	SNP	A	TCGA-N8-A56S-01A-11D-A28R-08	19426695	176016580	4898680	16	3091										
BAT2	7916	broad.mit.edu	37	chr6	31599134	31599134	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	ggagactgcacagctgacggGgccagaagcaggccgaaagc	16	11	0	3			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr6:31599134G>A	ENST00000376033.2	+	16	2918	c.2684G>A	c.(2683-2685)gGg>gAg	p.G895E	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G895E	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	895	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAGCTGACGGGGCCAGAAGCA	0.667																																						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.(2683-2685)gGg>gAg		proline-rich coiled-coil 2A							32	27	29					6																	31599134		1509	2709	4218	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31599134G>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.2684G>A	6.37:g.31599134G>A	ENSP00000365201:p.Gly895Glu		Somatic				PRRC2A_ENST00000376007.4_Missense_Mutation_p.G895E	p.G895E	NM_004638.3	NP_004629.3	WXS	Illumina GAIIx	Phase_I	P48634	PRC2A_HUMAN			16	2918	+			895			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.2684G>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348501	0.24426	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01527	4.8;4.8	4.93	4.93	0.64822	.	0.000000	0.56097	D	0.000038	T	0.02119	0.0066	N	0.19112	0.55	0.44201	D	0.997028	D	0.71674	0.998	D	0.64687	0.928	T	0.63620	-0.6596	10	0.87932	D	0	-15.6032	12.7047	0.57054	0.0:0.0:0.8346:0.1653	.	895	P48634	PRC2A_HUMAN	E	895;884;895;895;120	ENSP00000365175:G895E;ENSP00000365201:G895E	ENSP00000365175:G895E	G	+	2	0	PRRC2A	31707113	0.903000	0.30736	0.997000	0.53966	0.930000	0.56654	1.503000	0.35715	2.566000	0.86566	0.561000	0.74099	GGG		0.667	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		21	28	0	0	0	1	0	21	28					A	31599134	G	A	31599134	3	1	32	1	0	0	0	0	1	0	0	0	1319	1232	43	3	2742	3	BAT2	6	31599134	Missense_Mutation	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08		31599134	139515933	17	3092										
PRSS35	167681	broad.mit.edu	37	chr6	84234378	84234378	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	tgcctctggattcacgggaaCgatgccaattgtgcttacgg	12	10	2	0	rs370535612		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr6:84234378C>T	ENST00000369700.3	+	2	1395	c.1218C>T	c.(1216-1218)aaC>aaT	p.N406N	PRSS35_ENST00000536636.1_Silent_p.N406N	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	406	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TTCACGGGAACGATGCCAATT	0.498																																						ENST00000536636.1																			0				breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1216-1218)aaC>aaT		protease, serine, 35		C	,	0,4406		0,0,2203	57	40	46		1218,1218	0.3	0	6		46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PRSS35	NM_001170423.1,NM_153362.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	406/414,406/414	84234378	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84234378C>T	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1218C>T	6.37:g.84234378C>T			Somatic				PRSS35_ENST00000369700.3_Silent_p.N406N	p.N406N	NM_001170423.1	NP_001163894.1	WXS	Illumina GAIIx	Phase_I	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	3	1563	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	406			Peptidase S1.		A8K7B3|Q9BQP6	Silent	SNP	ENST00000369700.3	37	c.1218C>T	CCDS4999.1																																																																																				0.498	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		21	24	0	0	0	1	0	21	24					T	84234378	C	T	84234378	2	4	32	1	0	0	0	0	0	0	0	1	12636	535	19	1		1	PRSS35	6	84234378	Silent	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08	52635244	84234378	86880689	18	3093										
C6orf70	55780	broad.mit.edu	37	chr6	170176736	170176736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	ggaaaggacgctgcggtctcGccagcggcagaactacctgc	14	13	1	1			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr6:170176736G>A	ENST00000366773.3	+	16	1739	c.1706G>A	c.(1705-1707)cGc>cAc	p.R569H	ERMARD_ENST00000418781.3_Intron|ERMARD_ENST00000366772.2_Intron|ERMARD_ENST00000588451.1_Missense_Mutation_p.R433H|ERMARD_ENST00000392095.4_Missense_Mutation_p.R443H	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	569					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											CTGCGGTCTCGCCAGCGGCAG	0.597																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(1297-1299)cGc>cAc									82	74	77					6																	170176736		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr6:170176736G>A	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1706G>A	6.37:g.170176736G>A	ENSP00000355735:p.Arg569His		Somatic				C6orf70_ENST00000418781.3_Intron|C6orf70_ENST00000366773.3_Missense_Mutation_p.R569H|C6orf70_ENST00000366772.2_Intron|C6orf70_ENST00000392095.4_Missense_Mutation_p.R443H	p.R433H			WXS	Illumina GAIIx	Phase_I	Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	15	1811	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	569					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.1298G>A	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411067	0.83340	.	.	ENSG00000130023	ENST00000366773;ENST00000392095;ENST00000366771	T;T	0.73469	-0.74;-0.75	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000006	D	0.84924	0.5580	M	0.78637	2.42	0.40002	D	0.97517	D	0.89917	1.0	D	0.73708	0.981	D	0.86282	0.1668	10	0.87932	D	0	.	19.1519	0.93493	0.0:0.0:1.0:0.0	.	569	Q5T6L9	CF070_HUMAN	H	569;443;217	ENSP00000355735:R569H;ENSP00000375945:R443H	ENSP00000355733:R217H	R	+	2	0	C6orf70	169918661	0.993000	0.37304	0.976000	0.42696	0.591000	0.36615	5.839000	0.69395	2.694000	0.91930	0.558000	0.71614	CGC		0.597	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		19	29	0	0	0	1	0	19	29					A	170176736	G	A	170176736	3	1	32	1	0	0	0	0	1	0	0	0	2372	1087	38	1	1768	1	C6orf70	6	170176736	Missense_Mutation	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08	85942358	170176736	938331	19	3094										
CARD11	84433	broad.mit.edu	37	chr7	2953022	2953022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	tgaagagcacgggccggcggCgctcgcagtagaaggcgcgt	18	11	0	3	rs141681466		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr7:2953022C>T	ENST00000396946.4	-	22	3321	c.2918G>A	c.(2917-2919)cGc>cAc	p.R973H		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	973	Guanylate kinase-like.				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)		GGGCCGGCGGCGCTCGCAGTA	0.647			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(2917-2919)cGc>cAc		caspase recruitment domain family, member 11							65	60	62					7																	2953022		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.chr7:2953022C>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.2918G>A	7.37:g.2953022C>T	ENSP00000380150:p.Arg973His		Somatic					p.R973H	NM_032415.4	NP_115791.3	WXS	Illumina GAIIx	Phase_I	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	22	3321	-		Ovarian(82;0.0115)	973			Guanylate kinase-like.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.2918G>A	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414827	0.42817	.	.	ENSG00000198286	ENST00000396946	T	0.33216	1.42	4.36	3.47	0.39725	.	0.069182	0.52532	D	0.000070	T	0.19287	0.0463	L	0.27053	0.805	0.51233	D	0.999915	B	0.17038	0.02	B	0.14578	0.011	T	0.05582	-1.0876	10	0.35671	T	0.21	-31.1095	8.2371	0.31634	0.0:0.8208:0.0:0.1792	.	973	Q9BXL7	CAR11_HUMAN	H	973	ENSP00000380150:R973H	ENSP00000380150:R973H	R	-	2	0	CARD11	2919548	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	1.319000	0.33655	1.985000	0.57927	0.484000	0.47621	CGC		0.647	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		49	71	0	0	0	1	0	49	71					T	2953022	C	T	2953022	3	4	32	1	0	0	0	0	1	0	0	0	2647	768	27	1	562	1	CARD11	7	2953022	Missense_Mutation	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08		2953022	156185641	20	3095										
HOXA13	3209	broad.mit.edu	37	chr7	27237844	27237844	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	gtggttttcagtttgttgatGacttttttctctttaaccct	7	7	2	2			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr7:27237844G>A	ENST00000222753.4	-	2	1168	c.1140C>T	c.(1138-1140)gtC>gtT	p.V380V	HOTTIP_ENST00000421733.1_RNA|HOXA13_ENST00000518136.3_5'Flank|HOTTIP_ENST00000472494.1_RNA|HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000521028.2_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	380					artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|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)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GTTTGTTGATGACTTTTTTCT	0.423			T	NUP98	AML																																	ENST00000222753.4				Dom	yes		7	7p15-p14.2	3209	T	homeo box A13			L	NUP98		AML		0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						c.(1138-1140)gtC>gtT		homeobox A13							199	206	204					7																	27237844		2203	4300	6503	SO:0001819	synonymous_variant	3209				skeletal system development	nucleus	sequence-specific DNA binding	g.chr7:27237844G>A		CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"Homeoboxes / ANTP class : HOXL subclass"	5102	protein-coding gene	gene with protein product		142959	"homeo box A13"	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.1140C>T	7.37:g.27237844G>A			Somatic					p.V380V	NM_000522.4	NP_000513.2	WXS	Illumina GAIIx	Phase_I	P31271	HXA13_HUMAN			2	1168	-			380					A4D188|O43371	Silent	SNP	ENST00000222753.4	37	c.1140C>T	CCDS5412.1																																																																																				0.423	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3			71	106	0	0	0	1	0	71	106					A	27237844	G	A	27237844	2	1	32	1	0	0	0	0	0	0	0	1	7300	1277	45	3		3	HOXA13	7	27237844	Silent	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08	24284822	27237844	131900819	21	3096										
CAMK2B	816	broad.mit.edu	37	chr7	44268464	44268464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	ccccgctgagagggggccctCggcttctggggttcctgaac	15	14	1	2	rs374476287		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr7:44268464C>T	ENST00000395749.2	-	19	1475	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000502837.2_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	467					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AGGGGGCCCTCGGCTTCTGGG	0.652																																						ENST00000395749.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						c.(1399-1401)Gag>Aag		calcium/calmodulin-dependent protein kinase II beta			LYS/GLU,,,,,,,	0,4206		0,0,2103	7	8	8		1399,,,,,,,	4.1	1	7		8	1,8299		0,1,4149	no	missense,intron,intron,intron,intron,intron,intron,intron	CAMK2B	NM_001220.4,NM_172078.2,NM_172079.2,NM_172080.2,NM_172081.2,NM_172082.2,NM_172083.2,NM_172084.2	56,,,,,,,	0,1,6252	TT,TC,CC		0.012,0.0,0.0080	benign,,,,,,,	467/667,,,,,,,	44268464	1,12505	2103	4150	6253	SO:0001583	missense	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44268464C>T	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"CaM-kinase II beta chain", "calcium/calmodulin-dependent protein kinase type II beta chain", "CaM kinase II beta subunit", "proline rich calmodulin-dependent protein kinase"	607707	"calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1399G>A	7.37:g.44268464C>T	ENSP00000379098:p.Glu467Lys		Somatic				CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000457475.1_Intron	p.E467K	NM_001220.4	NP_001211.3	WXS	Illumina GAIIx	Phase_I	Q13554	KCC2B_HUMAN			19	1475	-			467					A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	ENST00000395749.2	37	c.1399G>A	CCDS5483.1	.	.	.	.	.	.	.	.	.	.	c	13.19	2.162229	0.38217	0.0	1.2E-4	ENSG00000058404	ENST00000395749	T	0.66815	-0.23	5.0	4.12	0.48240	Protein kinase-like domain (1);	.	.	.	.	T	0.42854	0.1221	N	0.19112	0.55	0.80722	D	1	B;P	0.34587	0.012;0.458	B;B	0.25614	0.007;0.062	T	0.40664	-0.9551	9	0.07482	T	0.82	.	11.7416	0.51796	0.0:0.9122:0.0:0.0878	.	467;467	Q13554;A4D2J9	KCC2B_HUMAN;.	K	467	ENSP00000379098:E467K	ENSP00000379098:E467K	E	-	1	0	CAMK2B	44234989	0.993000	0.37304	0.970000	0.41538	0.953000	0.61014	-0.130000	0.10498	2.296000	0.77279	0.558000	0.71614	GAG		0.652	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		16	27	0	0	0	1	0	16	27					T	44268464	C	T	44268464	3	4	32	1	0	0	0	0	1	0	0	0	2602	893	31	1	621	1	CAMK2B	7	44268464	Missense_Mutation	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08	17030620	44268464	114870199	22	3097										
AKR1B15	441282	broad.mit.edu	37	chr7	134260173	134260173	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	gtattcctttctatgataggCcatggaggagctggtggacg	14	7	1	1			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr7:134260173C>A	ENST00000457545.2	+	7	775	c.515C>A	c.(514-516)gCc>gAc	p.A172D	AKR1B15_ENST00000423958.1_Splice_Site_p.A144D	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	172							oxidoreductase activity (GO:0016491)	p.A190V(1)|p.A144V(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CTATGATAGGCCATGGAGGAG	0.517																																						ENST00000457545.2																			2	Substitution - Missense(2)	p.A190V(1)|p.A144V(1)	lung(2)	endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						c.e7-1		aldo-keto reductase family 1, member B15							52	55	54					7																	134260173		2203	4300	6503	SO:0001630	splice_region_variant	441282						oxidoreductase activity	g.chr7:134260173C>A		CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.514-1C>A	7.37:g.134260173C>A			Somatic				AKR1B15_ENST00000423958.1_Splice_Site_p.A144_splice	p.A172_splice	NM_001080538.2	NP_001074007.2	WXS	Illumina GAIIx	Phase_I	C9JRZ8	AK1BF_HUMAN			7	775	+			172					C9J3V2	Splice_Site	SNP	ENST00000457545.2	37	c.513_splice	CCDS47715.2	.	.	.	.	.	.	.	.	.	.	-	14.37	2.514320	0.44763	.	.	ENSG00000227471	ENST00000457545;ENST00000423958	T;T	0.24908	1.83;1.83	3.49	-2.29	0.06805	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.34048	0.0884	M	0.88570	2.965	0.39754	D	0.97192	P;P	0.39847	0.56;0.691	B;P	0.45998	0.282;0.5	T	0.34976	-0.9807	9	0.87932	D	0	.	1.1217	0.01726	0.1388:0.3179:0.2727:0.2706	.	144;172	C9JRZ8-2;C9JRZ8	.;AK1BF_HUMAN	D	172;144	ENSP00000389289:A172D;ENSP00000397009:A144D	ENSP00000397009:A144D	A	+	2	0	AKR1B15	133910713	0.000000	0.05858	0.757000	0.31301	0.555000	0.35460	-1.980000	0.01492	-0.972000	0.03559	-0.300000	0.09419	GCC		0.517	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339726.2		Missense_Mutation	6	48	1	0	5.9392e-07	1	6.6519e-07	6	48					A	134260173	C	A	134260173	5	1	32	1	0	0	0	0	0	0	1	0	468	753	26	5	533	5	AKR1B15	7	134260173	Splice_Site	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08	89991709	134260173	24878490	23	3098										
CHD7	55636	broad.mit.edu	37	chr8	61774882	61774882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	ggtgcctgttgtcaataaacGaaatgggaagaaggtaaacg	13	5	1	1			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr8:61774882G>A	ENST00000423902.2	+	36	8437	c.7958G>A	c.(7957-7959)cGa>cAa	p.R2653Q	CHD7_ENST00000524602.1_Missense_Mutation_p.R604Q	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2653			R -> Q. {ECO:0000269|PubMed:22461308, ECO:0000269|PubMed:22462537}.		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)			GTCAATAAACGAAATGGGAAG	0.398																																						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.(7957-7959)cGa>cAa		chromodomain helicase DNA binding protein 7							45	41	42					8																	61774882		1867	4096	5963	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.chr8:61774882G>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.7958G>A	8.37:g.61774882G>A	ENSP00000392028:p.Arg2653Gln		Somatic				CHD7_ENST00000524602.1_Missense_Mutation_p.R604Q	p.R2653Q	NM_017780.3	NP_060250.2	WXS	Illumina GAIIx	Phase_I	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		36	8437	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2653					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.7958G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215587	0.95104	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602	T;T	0.46063	0.88;0.88	5.56	5.56	0.83823	BRK domain (2);	0.000000	0.64402	D	0.000003	T	0.58366	0.2117	L	0.41236	1.265	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.56685	-0.7938	10	0.51188	T	0.08	-8.4774	19.6009	0.95561	0.0:0.0:1.0:0.0	.	2653	Q9P2D1	CHD7_HUMAN	Q	2653;2653;604	ENSP00000392028:R2653Q;ENSP00000437061:R604Q	ENSP00000307304:R2653Q	R	+	2	0	CHD7	61937436	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.865000	0.99609	2.632000	0.89209	0.650000	0.86243	CGA		0.398	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		4	14	0	0	0	1	0	4	14					A	61774882	G	A	61774882	3	1	32	1	0	0	0	0	1	0	0	0	3332	1058	37	1	8096	1	CHD7	8	61774882	Missense_Mutation	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08		61774882	84589140	24	3099										
ZER1	10444	broad.mit.edu	37	chr9	131515492	131515492	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	gatgtggtcgtcggacaggtCcatgttgtagaggacgaggg	18	6	0	1			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr9:131515492C>A	ENST00000291900.2	-	4	1103	c.697G>T	c.(697-699)Gac>Tac	p.D233Y	ZER1_ENST00000494461.1_5'Flank	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	233					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TCGGACAGGTCCATGTTGTAG	0.642																																						ENST00000291900.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(697-699)Gac>Tac		zyg-11 related, cell cycle regulator							44	28	34					9																	131515492		2203	4297	6500	SO:0001583	missense	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131515492C>A	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"ZYG11 cell cycle regulator family"	30960	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 60", "zyg-11 homolog B (C. elegans)-like", "zer-1 homolog (C. elegans)"	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.697G>T	9.37:g.131515492C>A	ENSP00000291900:p.Asp233Tyr		Somatic					p.D233Y	NM_006336.2	NP_006327.2	WXS	Illumina GAIIx	Phase_I	Q7Z7L7	ZER1_HUMAN			4	1103	-			233					O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	c.697G>T	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108932	0.77096	.	.	ENSG00000160445	ENST00000291900	T	0.17691	2.26	5.08	5.08	0.68730	.	0.097634	0.64402	D	0.000002	T	0.21387	0.0515	L	0.36672	1.1	0.58432	D	0.999999	D	0.55385	0.971	P	0.47299	0.543	T	0.00735	-1.1588	10	0.62326	D	0.03	-43.3254	17.6438	0.88144	0.0:1.0:0.0:0.0	.	233	Q7Z7L7	ZER1_HUMAN	Y	233	ENSP00000291900:D233Y	ENSP00000291900:D233Y	D	-	1	0	ZER1	130555313	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	5.411000	0.66386	2.652000	0.90054	0.655000	0.94253	GAC		0.642	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		11	3	1	0	3.07112e-06	1	3.39439e-06	11	3					A	131515492	C	A	131515492	3	1	32	1	0	0	0	0	1	0	0	0	17640	855	30	2	1655	2	ZER1	9	131515492	Missense_Mutation	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08		131515492	9697939	25	3100										
CACNA1B	774	broad.mit.edu	37	chr9	140773541	140773541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	gatcctggccaccatcatcgCcaactgcatcgtgctggccc	9	17	1	0			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr9:140773541C>T	ENST00000371372.1	+	2	465	c.320C>T	c.(319-321)gCc>gTc	p.A107V	CACNA1B_ENST00000371355.4_Missense_Mutation_p.A107V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A107V|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A107V|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A107V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	107					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)	ACCATCATCGCCAACTGCATC	0.647																																						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.(319-321)gCc>gTc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						48	55	52					9																	140773541		2160	4264	6424	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.chr9:140773541C>T	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.320C>T	9.37:g.140773541C>T	ENSP00000360423:p.Ala107Val		Somatic				CACNA1B_ENST00000371355.4_Missense_Mutation_p.A107V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A107V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A107V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A107V|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277549.5_5'UTR	p.A107V	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)	2	465	+	all_cancers(76;0.166)		107					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.320C>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892060	0.72524	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	4.52	3.6	0.41247	.	0.148151	0.45126	D	0.000397	T	0.64692	0.2621	M	0.75264	2.295	0.80722	D	1	D	0.58268	0.982	P	0.53760	0.734	T	0.70443	-0.4870	10	0.72032	D	0.01	.	14.4278	0.67227	0.0:0.8515:0.1485:0.0	.	107	B1AQK6	.	V	107	ENSP00000360423:A107V;ENSP00000277551:A107V;ENSP00000360414:A107V;ENSP00000360408:A107V;ENSP00000360406:A107V	ENSP00000277551:A107V	A	+	2	0	CACNA1B	139893362	1.000000	0.71417	1.000000	0.80357	0.320000	0.28249	7.500000	0.81588	0.869000	0.35703	-0.305000	0.09177	GCC		0.647	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		8	39	0	0	0	1	0	8	39					T	140773541	C	T	140773541	3	4	32	1	0	0	0	0	1	0	0	0	2541	739	26	3	326	3	CACNA1B	9	140773541	Missense_Mutation	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08	9258049	140773541	439890	26	3101										
ASB13	79754	broad.mit.edu	37	chr10	5693326	5693326	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	gtcgatgttgcgagcatccaCctcacgggaggaagaaacaa	12	10	1	1			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:5693326C>T	ENST00000357700.6	-	3	258	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	ASB13_ENST00000479033.1_Intron	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	78					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		CGAGCATCCACCTCACGGGAG	0.567																																						ENST00000357700.6																			0				NS(1)|endometrium(3)|lung(3)|ovary(1)	8						c.e3-1		ankyrin repeat and SOCS box containing 13							35	27	30					10																	5693326		2203	4299	6502	SO:0001630	splice_region_variant	79754				intracellular signal transduction		protein binding	g.chr10:5693326C>T	AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"Ankyrin repeat domain containing"	19765	protein-coding gene	gene with protein product		615055	"ankyrin repeat and SOCS box-containing 13"			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.232-1G>A	10.37:g.5693326C>T			Somatic				ASB13_ENST00000479033.1_Intron	p.V78_splice	NM_024701.3	NP_078977.2	WXS	Illumina GAIIx	Phase_I	Q8WXK3	ASB13_HUMAN		GBM - Glioblastoma multiforme(2;9.59e-09)	3	258	-			78					A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Splice_Site	SNP	ENST00000357700.6	37	c.231_splice	CCDS7070.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632455	0.67015	.	.	ENSG00000196372	ENST00000357700	T	0.57907	0.37	4.31	4.31	0.51392	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.76863	0.4047	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.82717	-0.0319	10	0.66056	D	0.02	-9.3438	16.7241	0.85417	0.0:1.0:0.0:0.0	.	78;78	Q8WXK3-2;Q8WXK3	.;ASB13_HUMAN	M	78	ENSP00000350331:V78M	ENSP00000350331:V78M	V	-	1	0	ASB13	5733332	1.000000	0.71417	0.999000	0.59377	0.356000	0.29392	7.275000	0.78548	2.111000	0.64477	0.561000	0.74099	GTG		0.567	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046564.1		Missense_Mutation	14	18	0	0	0	1	0	14	18					T	5693326	C	T	5693326	5	4	32	1	0	0	0	0	0	0	1	0	1017	521	18	3	620	3	ASB13	10	5693326	Splice_Site	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08		5693326	129841421	27	3102										
OGDHL	55753	broad.mit.edu	37	chr10	50955098	50955098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	cttgccctgggcatctccacGgtagaactgctctgcctttg	10	14	2	1			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:50955098G>A	ENST00000374103.4	-	9	1229	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	OGDHL_ENST00000432695.1_Missense_Mutation_p.R173C|OGDHL_ENST00000419399.1_Missense_Mutation_p.R325C	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	382					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCATCTCCACGGTAGAACTGC	0.642																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1144-1146)Cgt>Tgt		oxoglutarate dehydrogenase-like							185	162	170					10																	50955098		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50955098G>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1144C>T	10.37:g.50955098G>A	ENSP00000363216:p.Arg382Cys		Somatic				OGDHL_ENST00000419399.1_Missense_Mutation_p.R325C|OGDHL_ENST00000432695.1_Missense_Mutation_p.R173C	p.R382C	NM_018245.2	NP_060715.2	WXS	Illumina GAIIx	Phase_I	Q9ULD0	OGDHL_HUMAN			9	1229	-			382					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1144C>T	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343451	0.41498	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.15256	2.44;2.44;3.32	5.97	5.97	0.96955	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	T	0.22859	0.0552	L	0.53561	1.675	0.80722	D	1	B;B;B	0.24823	0.043;0.024;0.112	B;B;B	0.26969	0.03;0.021;0.075	T	0.01771	-1.1277	10	0.33141	T	0.24	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	325;173;382	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	C	382;325;173	ENSP00000363216:R382C;ENSP00000401356:R325C;ENSP00000390240:R173C	ENSP00000363216:R382C	R	-	1	0	OGDHL	50625104	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	2.464000	0.45067	2.837000	0.97791	0.655000	0.94253	CGT		0.642	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		44	76	0	0	0	1	0	44	76					A	50955098	G	A	50955098	3	1	32	1	0	0	0	0	1	0	0	0	10849	1116	39	1	1948	1	OGDHL	10	50955098	Missense_Mutation	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08	45261772	50955098	84579649	28	3103										
ZRANB1	54764	broad.mit.edu	37	chr10	126672148	126672148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	aaatgatggctatggcaaccGaggtgctggtgctaatctca	12	8	1	1			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:126672148G>A	ENST00000359653.4	+	8	2170	c.1799G>A	c.(1798-1800)cGa>cAa	p.R600Q		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	600	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)		TATGGCAACCGAGGTGCTGGT	0.468																																						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.(1798-1800)cGa>cAa		zinc finger, RAN-binding domain containing 1							150	124	133					10																	126672148		2203	4300	6503	SO:0001583	missense	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.chr10:126672148G>A	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.1799G>A	10.37:g.126672148G>A	ENSP00000352676:p.Arg600Gln		Somatic					p.R600Q	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	2170	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	600			TRAF-binding.		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	c.1799G>A	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446693	0.84101	.	.	ENSG00000019995	ENST00000359653	T	0.18502	2.21	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	L	0.44542	1.39	0.80722	D	1	D	0.63880	0.993	P	0.47299	0.543	T	0.01839	-1.1263	10	0.13470	T	0.59	-35.6471	19.5944	0.95530	0.0:0.0:1.0:0.0	.	600	Q9UGI0	ZRAN1_HUMAN	Q	600	ENSP00000352676:R600Q	ENSP00000352676:R600Q	R	+	2	0	ZRANB1	126662138	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.263000	0.95617	2.868000	0.98415	0.555000	0.69702	CGA		0.468	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		24	44	0	0	0	1	0	24	44					A	126672148	G	A	126672148	3	1	32	1	0	0	0	0	1	0	0	0	18237	1058	37	1	1829	1	ZRANB1	10	126672148	Missense_Mutation	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08	75717050	126672148	8862599	29	3104										
GYLTL1B	120071	broad.mit.edu	37	chr11	45948052	45948052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	aacaagcatgtggaattcttCcgcaatttctacctgacctt	6	11	2	1	rs142831797		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr11:45948052C>A	ENST00000531526.1	+	9	1179	c.1068C>A	c.(1066-1068)ttC>ttA	p.F356L	GYLTL1B_ENST00000325468.5_Missense_Mutation_p.F356L|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.F356L|GYLTL1B_ENST00000389968.3_Missense_Mutation_p.F83L|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.F325L|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.F325L	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	356					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		TGGAATTCTTCCGCAATTTCT	0.582																																						ENST00000531526.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1066-1068)ttC>ttA		glycosyltransferase-like 1B							96	99	98					11																	45948052		2203	4299	6502	SO:0001583	missense	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45948052C>A		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"Glycosyltransferase family 8 domain containing"	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1068C>A	11.37:g.45948052C>A	ENSP00000432869:p.Phe356Leu		Somatic				GYLTL1B_ENST00000325468.5_Missense_Mutation_p.F356L|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.F325L|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.F356L|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.F325L|GYLTL1B_ENST00000389968.3_Missense_Mutation_p.F83L	p.F356L	NM_152312.3	NP_689525.3	WXS	Illumina GAIIx	Phase_I	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	9	1179	+			356					A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	c.1068C>A	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122771	0.94429	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000389968;ENST00000325468;ENST00000536139;ENST00000534410	T;T;T;D;T;T	0.82619	1.74;1.74;1.74;-1.63;1.74;1.74	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.91456	0.7303	M	0.81239	2.535	0.80722	D	1	D;P;B	0.76494	0.999;0.691;0.353	D;P;B	0.71184	0.972;0.566;0.347	D	0.90361	0.4373	10	0.41790	T	0.15	-31.367	19.8052	0.96529	0.0:1.0:0.0:0.0	.	325;325;356	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	L	325;356;356;83;356;325;17	ENSP00000431932:F325L;ENSP00000432869:F356L;ENSP00000385235:F356L;ENSP00000374618:F83L;ENSP00000324570:F356L;ENSP00000445044:F325L	ENSP00000324570:F356L	F	+	3	2	GYLTL1B	45904628	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.644000	0.61397	2.688000	0.91661	0.561000	0.74099	TTC		0.582	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		36	5	1	0	9.17885e-22	1	1.08595e-21	36	5					A	45948052	C	A	45948052	3	1	32	1	0	0	0	0	1	0	0	0	6916	854	30	2	1098	2	GYLTL1B	11	45948052	Missense_Mutation	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08		45948052	89058464	30	3105										
STX3	6809	broad.mit.edu	37	chr11	59559673	59559673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	gcagcaaagggcgaatccagCggcagctcgaaattagtatg	13	9	0	0			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr11:59559673C>T	ENST00000337979.4	+	6	998	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	STX3_ENST00000437946.2_Missense_Mutation_p.R54W|STX3_ENST00000300150.7_Missense_Mutation_p.R120W|STX3_ENST00000529177.1_Missense_Mutation_p.R151W|STX3_ENST00000535361.1_Missense_Mutation_p.R151W	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	151					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						GCGAATCCAGCGGCAGCTCGA	0.527																																						ENST00000535361.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						c.(451-453)Cgg>Tgg		syntaxin 3							120	101	107					11																	59559673		2201	4295	6496	SO:0001583	missense	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.chr11:59559673C>T	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.451C>T	11.37:g.59559673C>T	ENSP00000338562:p.Arg151Trp		Somatic				STX3_ENST00000337979.4_Missense_Mutation_p.R151W|STX3_ENST00000437946.2_Missense_Mutation_p.R54W|STX3_ENST00000529177.1_Missense_Mutation_p.R151W|STX3_ENST00000300150.7_Missense_Mutation_p.R120W	p.R151W			WXS	Illumina GAIIx	Phase_I	Q13277	STX3_HUMAN			6	998	+			151					B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	ENST00000337979.4	37	c.451C>T	CCDS7975.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937970	0.73557	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000437946;ENST00000529177;ENST00000528805	T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48	5.3	3.13	0.36017	t-SNARE (1);	0.049790	0.85682	D	0.000000	T	0.64283	0.2584	M	0.93550	3.43	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.75986	-0.3124	10	0.87932	D	0	-16.78	14.1987	0.65688	0.2823:0.7177:0.0:0.0	.	54;151;151;151	E7ET77;B4DME0;Q13277-2;Q13277	.;.;.;STX3_HUMAN	W	120;151;151;54;151;103	ENSP00000300150:R120W;ENSP00000338562:R151W;ENSP00000441649:R151W;ENSP00000393536:R54W;ENSP00000433248:R151W;ENSP00000431386:R103W	ENSP00000300150:R120W	R	+	1	2	STX3	59316249	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.565000	0.45939	1.160000	0.42584	0.650000	0.86243	CGG		0.527	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177		17	37	0	0	0	1	0	17	37					T	59559673	C	T	59559673	3	4	32	1	0	0	0	0	1	0	0	0	15361	759	27	1	473	1	STX3	11	59559673	Missense_Mutation	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08	13611621	59559673	75446843	31	3106										
ANO2	57101	broad.mit.edu	37	chr12	6031879	6031879	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	gcccggggacctggcatcttGagacactgctgtccatgttt	12	12	1	1			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:6031879G>A	ENST00000356134.5	-	2	173	c.102C>T	c.(100-102)ctC>ctT	p.L34L	ANO2_ENST00000546188.1_Silent_p.L34L|ANO2_ENST00000327087.8_Silent_p.L34L	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	38					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						CTGGCATCTTGAGACACTGCT	0.662																																						ENST00000546188.1																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(100-102)ctC>ctT		anoctamin 2							22	25	24					12																	6031879		1892	4114	6006	SO:0001819	synonymous_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:6031879G>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.102C>T	12.37:g.6031879G>A			Somatic				ANO2_ENST00000327087.8_Silent_p.L34L|ANO2_ENST00000356134.5_Silent_p.L34L	p.L34L			WXS	Illumina GAIIx	Phase_I	Q9NQ90	ANO2_HUMAN			2	173	-			38					C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.102C>T																																																																																					0.662	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		6	6	0	0	0	1	0	6	6					A	6031879	G	A	6031879	2	1	32	1	0	0	0	0	0	0	0	1	697	1277	45	3		3	ANO2	12	6031879	Silent	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08		6031879	127820016	32	3107										
VWF	7450	broad.mit.edu	37	chr12	6101114	6101114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	tggtccccacaggagctcacGttgccatcacagtgccgggg	13	14	2	0	rs149847513		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:6101114G>A	ENST00000261405.5	-	38	6923	c.6669C>T	c.(6667-6669)aaC>aaT	p.N2223N		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2223	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)	AGGAGCTCACGTTGCCATCAC	0.552													G|||	1	0.000199681	0	0	5008	,	,		22121	0.001		0	False		,,,				2504	0					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.(6667-6669)aaC>aaT		von Willebrand factor	Antihemophilic Factor(DB00025)						111	86	94					12																	6101114		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.chr12:6101114G>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.6669C>T	12.37:g.6101114G>A			Somatic					p.N2223N	NM_000552.3	NP_000543.2	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			38	6923	-			2223			E2.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.6669C>T	CCDS8539.1																																																																																				0.552	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		24	28	0	0	0	1	0	24	28					A	6101114	G	A	6101114	2	1	32	1	0	0	0	0	0	0	0	1	17261	1136	40	1		1	VWF	12	6101114	Silent	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08	69235	6101114	127750781	33	3108										
C12orf34	84915	broad.mit.edu	37	chr12	110206636	110206636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	accgccgccccagccactgcGtgcctacagtgggagcacgg	13	17	0	0	rs200880090	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:110206636G>A	ENST00000538780.1	+	3	1618	c.902G>A	c.(901-903)cGt>cAt	p.R301H	FAM222A-AS1_ENST00000541460.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.R301H|FAM222A-AS1_ENST00000541723.1_RNA	NM_032829.2	NP_116218.2	Q5U5X8	F222A_HUMAN	family with sequence similarity 222, member A	301																	CAGCCACTGCGTGCCTACAGT	0.711													G|||	2	0.000399361	0	0.0014	5008	,	,		14309	0		0	False		,,,				2504	0.001					ENST00000538780.1																			0											c.(901-903)cGt>cAt		family with sequence similarity 222, member A							6	7	6					12																	110206636		2116	4143	6259	SO:0001583	missense	84915							g.chr12:110206636G>A	AK027627	CCDS9133.1	12q24.11	2012-04-27	2012-04-27	2012-04-27	ENSG00000139438	ENSG00000139438			25915	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 34"	C12orf34		12477932	Standard	NM_032829		Approved	FLJ14721	uc001tpd.2	Q5U5X8	OTTHUMG00000169260	ENST00000538780.1:c.902G>A	12.37:g.110206636G>A	ENSP00000443292:p.Arg301His		Somatic				FAM222A_ENST00000358906.3_Missense_Mutation_p.R301H|FAM222A-AS1_ENST00000541460.1_RNA|FAM222A-AS1_ENST00000541723.1_RNA	p.R301H	NM_032829.2	NP_116218.2	WXS	Illumina GAIIx	Phase_I	Q5U5X8	CL034_HUMAN			3	1618	+			301					Q8NCD5|Q96SP6	Missense_Mutation	SNP	ENST00000538780.1	37	c.902G>A	CCDS9133.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.75	3.466879	0.63625	.	.	ENSG00000139438	ENST00000538780;ENST00000358906	T;T	0.32023	1.47;1.47	4.63	2.62	0.31277	.	0.134538	0.49305	D	0.000146	T	0.46756	0.1409	M	0.69823	2.125	0.51233	D	0.999912	D	0.64830	0.994	P	0.56474	0.799	T	0.54214	-0.8327	10	0.72032	D	0.01	-21.5315	13.2964	0.60298	0.0:0.3029:0.6971:0.0	.	301	Q5U5X8	CL034_HUMAN	H	301	ENSP00000443292:R301H;ENSP00000351783:R301H	ENSP00000351783:R301H	R	+	2	0	C12orf34	108691019	0.988000	0.35896	0.088000	0.20740	0.680000	0.39746	5.400000	0.66320	0.932000	0.37266	0.491000	0.48974	CGT		0.711	FAM222A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403175.1	NM_032829		6	7	0	0	0	1	0	6	7					A	110206636	G	A	110206636	3	1	32	1	0	0	0	0	1	0	0	0	1683	1145	40	1	908	1	C12orf34	12	110206636	Missense_Mutation	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08	104105522	110206636	23645259	34	3109										
TRPV4	59341	broad.mit.edu	37	chr12	110234489	110234489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	tcctcatccgtcacctcccgCcggatgatgtgctgaaagat	9	14	2	3			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:110234489C>T	ENST00000418703.2	-	6	1267	c.1173G>A	c.(1171-1173)cgG>cgA	p.R391R	TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000536838.1_Silent_p.R357R|TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000541794.1_Silent_p.R344R|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000392719.2_Silent_p.R344R|TRPV4_ENST00000261740.2_Silent_p.R391R	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	391					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCACCTCCCGCCGGATGATGT	0.622																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1171-1173)cgG>cgA		transient receptor potential cation channel, subfamily V, member 4							82	71	75					12																	110234489		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:110234489C>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.1173G>A	12.37:g.110234489C>T			Somatic				TRPV4_ENST00000541794.1_Silent_p.R344R|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000536838.1_Silent_p.R357R|TRPV4_ENST00000392719.2_Silent_p.R344R|TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000261740.2_Silent_p.R391R	p.R391R	NM_001177431.1	NP_001170902.1	WXS	Illumina GAIIx	Phase_I	Q9HBA0	TRPV4_HUMAN			6	1267	-			391					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.1173G>A	CCDS9134.1																																																																																				0.622	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		28	43	0	0	0	1	0	28	43					T	110234489	C	T	110234489	2	4	32	1	0	0	0	0	0	0	0	1	16613	726	26	3		3	TRPV4	12	110234489	Silent	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08	27853	110234489	23617406	35	3110										
NID2	22795	broad.mit.edu	37	chr14	52521021	52521021	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	tggaaagcccacactccaggGatccccaggttgcttagtct	10	13	1	0			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr14:52521021G>T	ENST00000216286.5	-	4	785	c.786C>A	c.(784-786)atC>atA	p.I262I	NID2_ENST00000541773.1_Silent_p.I209I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	262	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				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)					ACACTCCAGGGATCCCCAGGT	0.483																																						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.(784-786)atC>atA		nidogen 2 (osteonidogen)							48	47	47					14																	52521021		2203	4300	6503	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52521021G>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.786C>A	14.37:g.52521021G>T			Somatic				NID2_ENST00000541773.1_Silent_p.I209I	p.I262I	NM_007361.3	NP_031387.3	WXS	Illumina GAIIx	Phase_I	Q14112	NID2_HUMAN			4	785	-	Breast(41;0.0639)|all_epithelial(31;0.123)		262			NIDO.		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.786C>A	CCDS9706.1																																																																																				0.483	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			24	5	1	0	3.6726e-16	1	4.2847e-16	24	5					T	52521021	G	T	52521021	2	4	32	1	0	0	0	0	0	0	0	1	10424	1164	41	2		2	NID2	14	52521021	Silent	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08		52521021	54828519	36	3111										
ARHGAP11A	9824	broad.mit.edu	37	chr15	32928766	32928766	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	tgaccaaagagactttggtgAaagttcaaaaagcgttttct	9	6	2	3			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:32928766A>G	ENST00000361627.3	+	12	2514	c.1792A>G	c.(1792-1794)Aaa>Gaa	p.K598E	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.K409E|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.K409E	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	598					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(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)		GACTTTGGTGAAAGTTCAAAA	0.373																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1792-1794)Aaa>Gaa		Rho GTPase activating protein 11A							71	76	74					15																	32928766		2199	4300	6499	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32928766A>G	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.1792A>G	15.37:g.32928766A>G	ENSP00000355090:p.Lys598Glu		Somatic				ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.K409E|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.K409E	p.K598E	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)	12	2514	+		all_lung(180;1.3e-11)	598					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.1792A>G	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	23.7	4.450708	0.84101	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.15017	2.46	5.56	5.56	0.83823	.	0.096800	0.45126	D	0.000391	T	0.32315	0.0825	M	0.72118	2.19	0.42626	D	0.993368	D	0.62365	0.991	P	0.51016	0.656	T	0.14008	-1.0488	10	0.87932	D	0	.	15.7026	0.77552	1.0:0.0:0.0:0.0	.	598	Q6P4F7	RHGBA_HUMAN	E	598;409	ENSP00000355090:K598E	ENSP00000355090:K598E	K	+	1	0	ARHGAP11A	30716058	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	7.246000	0.78247	2.104000	0.64026	0.445000	0.29226	AAA		0.373	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		17	25	0	0	0	1	0	17	25					G	32928766	A	G	32928766	3	3	32	1	0	0	0	0	1	0	0	0	863	247	9	4	1861	4	ARHGAP11A	15	32928766	Missense_Mutation	SNP	A	TCGA-N8-A56S-01A-11D-A28R-08		32928766	69602626	37	3112										
DUOX2	50506	broad.mit.edu	37	chr15	45391874	45391874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	acgtactggccaggacaacaGcagccatggcgatccagcgg	13	13	0	0			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:45391874G>A	ENST00000603300.1	-	25	3603	c.3401C>T	c.(3400-3402)gCt>gTt	p.A1134V	DUOX2_ENST00000389039.6_Missense_Mutation_p.A1134V	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1134	Ferric oxidoreductase.|Interaction with TXNDC11. {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)		CAGGACAACAGCAGCCATGGC	0.557																																						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.(3400-3402)gCt>gTt		dual oxidase 2							82	73	76					15																	45391874		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.chr15:45391874G>A	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.3401C>T	15.37:g.45391874G>A	ENSP00000475084:p.Ala1134Val		Somatic				DUOX2_ENST00000603300.1_Missense_Mutation_p.A1134V	p.A1134V			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)	25	3786	-		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)	1134			Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.3401C>T	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	34	5.348185	0.95807	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.58	5.58	0.84498	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	T	0.71821	0.3385	L	0.38838	1.175	0.80722	D	1	D	0.58970	0.984	D	0.69479	0.964	T	0.70795	-0.4775	9	0.45353	T	0.12	-1.3995	18.5619	0.91102	0.0:0.0:1.0:0.0	.	1134	Q9NRD8	DUOX2_HUMAN	V	1134	.	ENSP00000373691:A1134V	A	-	2	0	DUOX2	43179166	1.000000	0.71417	0.718000	0.30602	0.972000	0.66771	9.824000	0.99380	2.647000	0.89833	0.467000	0.42956	GCT		0.557	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		38	63	0	0	0	1	0	38	63					A	45391874	G	A	45391874	3	1	32	1	0	0	0	0	1	0	0	0	4803	971	34	3	1285	3	DUOX2	15	45391874	Missense_Mutation	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08	12463108	45391874	57139518	38	3113										
CHRNB4	1143	broad.mit.edu	37	chr15	78923451	78923451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	cgatgtcaggcaaccagatgCgctttgcagggatcctcagg	13	11	2	1	rs149832833		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:78923451C>T	ENST00000261751.3	-	4	437	c.326G>A	c.(325-327)cGc>cAc	p.R109H	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'UTR|CHRNB4_ENST00000412074.2_Missense_Mutation_p.R109H	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	109					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)	CAACCAGATGCGCTTTGCAGG	0.592													C|||	1	0.000199681	8e-04	0	5008	,	,		22259	0		0	False		,,,				2504	0					ENST00000261751.3																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(325-327)cGc>cAc		cholinergic receptor, nicotinic, beta 4 (neuronal)		C	HIS/ARG	2,4390	4.2+/-10.8	0,2,2194	134	104	114		326	5.1	0.6	15	dbSNP_134	114	0,8586		0,0,4293	no	missense	CHRNB4	NM_000750.3	29	0,2,6487	TT,TC,CC		0.0,0.0455,0.0154	benign	109/499	78923451	2,12976	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.chr15:78923451C>T	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.326G>A	15.37:g.78923451C>T	ENSP00000261751:p.Arg109His		Somatic				CHRNB4_ENST00000412074.2_Missense_Mutation_p.R109H|CHRNB4_ENST00000560511.1_5'UTR	p.R109H	NM_000750.3	NP_000741.1	WXS	Illumina GAIIx	Phase_I	P30926	ACHB4_HUMAN			4	437	-			109					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.326G>A	CCDS10306.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.478	-0.881405	0.02530	4.55E-4	0.0	ENSG00000117971	ENST00000261751;ENST00000412074	T;T	0.79845	-1.31;-1.31	5.12	5.12	0.69794	Neurotransmitter-gated ion-channel ligand-binding (3);	0.127714	0.53938	D	0.000051	T	0.44664	0.1304	N	0.01352	-0.895	0.29368	N	0.864221	B;B	0.31625	0.332;0.004	B;B	0.23275	0.045;0.006	T	0.53725	-0.8398	10	0.02654	T	1	.	6.6891	0.23161	0.0:0.7795:0.0:0.2205	.	109;109	E9PHE8;P30926	.;ACHB4_HUMAN	H	109	ENSP00000261751:R109H;ENSP00000416386:R109H	ENSP00000261751:R109H	R	-	2	0	CHRNB4	76710506	0.992000	0.36948	0.597000	0.28824	0.243000	0.25628	2.447000	0.44917	2.405000	0.81733	0.650000	0.86243	CGC		0.592	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			4	104	0	0	0	1	0	4	104					T	78923451	C	T	78923451	3	4	32	1	0	0	0	0	1	0	0	0	3395	768	27	1	1182	1	CHRNB4	15	78923451	Missense_Mutation	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08	33531577	78923451	23607941	39	3114										
IRX6	79190	broad.mit.edu	37	chr16	55362885	55362885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	agaagctgacttcctctcggCggagacaggcagccctaggt	13	12	1	3			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr16:55362885C>T	ENST00000290552.7	+	5	2327	c.995C>T	c.(994-996)gCg>gTg	p.A332V	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	332					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						TTCCTCTCGGCGGAGACAGGC	0.632																																						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.(994-996)gCg>gTg		iroquois homeobox 6							42	43	43					16																	55362885		2197	4297	6494	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362885C>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.995C>T	16.37:g.55362885C>T	ENSP00000290552:p.Ala332Val		Somatic				RP11-26L20.3_ENST00000558730.2_RNA	p.A332V	NM_024335.2	NP_077311.2	WXS	Illumina GAIIx	Phase_I	P78412	IRX6_HUMAN			5	2327	+			332					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.995C>T	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	C	7.929	0.740215	0.15642	.	.	ENSG00000159387	ENST00000290552	D	0.89939	-2.59	4.87	-0.927	0.10451	.	0.549745	0.18763	N	0.131829	T	0.76821	0.4041	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.62798	-0.6778	10	0.40728	T	0.16	-0.9676	4.5009	0.11863	0.2383:0.4966:0.0:0.2651	.	332	P78412	IRX6_HUMAN	V	332	ENSP00000290552:A332V	ENSP00000290552:A332V	A	+	2	0	IRX6	53920386	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.111000	0.15458	-0.003000	0.14444	-0.410000	0.06199	GCG		0.632	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		5	75	0	0	0	1	0	5	75					T	55362885	C	T	55362885	3	4	32	1	0	0	0	0	1	0	0	0	7857	768	27	1	1013	1	IRX6	16	55362885	Missense_Mutation	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08		55362885	34991868	40	3115										
RSPRY1	89970	broad.mit.edu	37	chr16	57238722	57238722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	tatctgccgagatgacagtgGaacagatgacagtgttgaca	12	7	1	5			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr16:57238722G>A	ENST00000537866.1	+	2	1025	c.152G>A	c.(151-153)gGa>gAa	p.G51E	RSPRY1_ENST00000394420.4_Missense_Mutation_p.G51E			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	51						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GATGACAGTGGAACAGATGAC	0.552																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(151-153)gGa>gAa		ring finger and SPRY domain containing 1							158	151	153					16																	57238722		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57238722G>A	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.152G>A	16.37:g.57238722G>A	ENSP00000443176:p.Gly51Glu		Somatic				RSPRY1_ENST00000394420.4_Missense_Mutation_p.G51E	p.G51E			WXS	Illumina GAIIx	Phase_I	Q96DX4	RSPRY_HUMAN			2	1025	+			51					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.152G>A	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605147	0.46423	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.84800	-1.9;-1.9	4.74	4.74	0.60224	.	0.173367	0.52532	D	0.000078	D	0.85080	0.5615	L	0.36672	1.1	0.58432	D	0.999993	P;B	0.52061	0.95;0.295	P;B	0.52066	0.689;0.068	D	0.83541	0.0096	10	0.31617	T	0.26	.	18.2918	0.90133	0.0:0.0:1.0:0.0	.	51;51	Q96DX4-2;Q96DX4	.;RSPRY_HUMAN	E	51	ENSP00000377942:G51E;ENSP00000443176:G51E	ENSP00000377942:G51E	G	+	2	0	RSPRY1	55796223	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.521000	0.73778	2.630000	0.89119	0.655000	0.94253	GGA		0.552	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		93	103	0	0	0	1	0	93	103					A	57238722	G	A	57238722	3	1	32	1	0	0	0	0	1	0	0	0	13728	1174	41	3	154	3	RSPRY1	16	57238722	Missense_Mutation	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08	1875837	57238722	33116031	41	3116										
POLR2A	5430	broad.mit.edu	37	chr17	7417153	7417153	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	cccagagtataccccaacctCtcccaagtactcacctacca	3	19	2	1			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:7417153C>T	ENST00000322644.6	+	29	5969	c.5570C>T	c.(5569-5571)tCt>tTt	p.S1857F		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1857	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				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)				ACCCCAACCTCTCCCAAGTAC	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.(5569-5571)tCt>tTt		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							246	254	251					17																	7417153		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7417153C>T			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.5570C>T	17.37:g.7417153C>T	ENSP00000314949:p.Ser1857Phe		Somatic					p.S1857F	NM_000937.4	NP_000928.1	WXS	Illumina GAIIx	Phase_I	P24928	RPB1_HUMAN			29	5969	+		Prostate(122;0.173)	1857			52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.5570C>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976145	0.53720	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.72394	-0.65	3.64	3.64	0.41730	.	0.274712	0.22387	U	0.060738	D	0.86875	0.6038	H	0.96269	3.795	0.80722	D	1	P	0.43826	0.818	P	0.55965	0.788	D	0.91056	0.4882	10	0.87932	D	0	.	14.674	0.68964	0.0:1.0:0.0:0.0	.	1857	P24928	RPB1_HUMAN	F	1813;742;1857	ENSP00000314949:S1857F	ENSP00000314949:S1857F	S	+	2	0	SLC35G6	7357877	0.118000	0.22208	0.894000	0.35097	0.652000	0.38707	2.369000	0.44231	2.042000	0.60477	0.298000	0.19748	TCT		0.567	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		104	154	0	0	0	1	0	104	154					T	7417153	C	T	7417153	3	4	32	1	0	0	0	0	1	0	0	0	12223	913	32	3	5684	3	POLR2A	17	7417153	Missense_Mutation	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08		7417153	73778057	42	3117										
TP53	7157	broad.mit.edu	37	chr17	7579389	7579389	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	gctgccctggtaggttttctGggaagggacagaagatgaca	15	7	1	3			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:7579389G>A	ENST00000269305.4	-	4	487	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	TP53_ENST00000420246.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q100*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q100*	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	100	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		Q -> 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.Q100*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(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)	TAGGTTTTCTGGGAAGGGACA	0.652		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		30	Substitution - Nonsense(12)|Deletion - Frameshift(10)|Whole gene deletion(8)	p.Q100*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)	upper_aerodigestive_tract(6)|lung(4)|ovary(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|adrenal_gland(2)|central_nervous_system(2)|skin(2)|stomach(1)|breast(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.(298-300)Cag>Tag	Other conserved DNA damage response genes	tumor protein p53							50	52	51					17																	7579389		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7579389G>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.298C>T	17.37:g.7579389G>A	ENSP00000269305:p.Gln100*	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_Nonsense_Mutation_p.Q100*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q100*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q100*	p.Q100*	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	430	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	100		Q -> R (in a sporadic cancer; somatic mutation).	Interaction with HIPK1 (By similarity).|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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.298C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710371	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.75	3.76	0.43208	.	0.315497	0.32386	N	0.006178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-9.4011	8.082	0.30750	0.0:0.1753:0.6433:0.1814	.	.	.	.	X	100	.	ENSP00000269305:Q100X	Q	-	1	0	TP53	7520114	0.357000	0.24938	0.127000	0.21898	0.611000	0.37282	3.263000	0.51546	1.327000	0.45338	0.655000	0.94253	CAG		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		71	24	0	0	0	1	0	71	24					A	7579389	G	A	7579389	4	1	32	1	0	0	0	0	0	1	0	0	16396	1357	47	3	1004	3	TP53	17	7579389	Nonsense_Mutation	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08	162236	7579389	73615821	43	3118										
BPTF	2186	broad.mit.edu	37	chr17	65916138	65916138	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	taaatcaccatagaaacatcCgaaactgaaatcacaacaac	3	11	2	2			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:65916138C>T	ENST00000321892.4	+	15	5875	c.5814C>T	c.(5812-5814)tcC>tcT	p.S1938S	BPTF_ENST00000424123.3_Silent_p.S1799S|BPTF_ENST00000335221.5_Silent_p.S1938S|BPTF_ENST00000306378.6_Silent_p.S1812S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1938					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)			TAGAAACATCCGAAACTGAAA	0.343																																						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.(5812-5814)tcC>tcT		bromodomain PHD finger transcription factor							109	111	111					17																	65916138		2203	4300	6503	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65916138C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5814C>T	17.37:g.65916138C>T			Somatic				BPTF_ENST00000335221.5_Silent_p.S1938S|BPTF_ENST00000424123.3_Silent_p.S1799S|BPTF_ENST00000306378.6_Silent_p.S1812S	p.S1938S			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)		15	5875	+	all_cancers(12;6e-11)		1938					Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.5814C>T																																																																																					0.343	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		42	14	0	0	0	1	0	42	14					T	65916138	C	T	65916138	2	4	32	1	0	0	0	0	0	0	0	1	1497	639	23	1		1	BPTF	17	65916138	Silent	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08	58336749	65916138	15279072	44	3119										
HGS	9146	broad.mit.edu	37	chr17	79653378	79653378	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	aattccatcaagaagaaagtCaacgacaagaacccacacgt	6	11	2	3			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:79653378C>T	ENST00000329138.4	+	3	294	c.159C>T	c.(157-159)gtC>gtT	p.V53V	ARL16_ENST00000573392.1_5'Flank|ARL16_ENST00000574938.1_5'Flank|ARL16_ENST00000397498.4_5'Flank|ARL16_ENST00000570561.1_5'Flank|ARL16_ENST00000576135.1_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	53	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)			AGAAGAAAGTCAACGACAAGA	0.478																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(157-159)gtC>gtT		hepatocyte growth factor-regulated tyrosine kinase substrate							135	113	120					17																	79653378		2202	4300	6502	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.chr17:79653378C>T	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.159C>T	17.37:g.79653378C>T			Somatic					p.V53V	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)		3	294	+	all_neural(118;0.0878)|all_lung(278;0.23)		53			VHS.		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.159C>T	CCDS11784.1																																																																																				0.478	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		62	12	0	0	0	1	0	62	12					T	79653378	C	T	79653378	2	4	32	1	0	0	0	0	0	0	0	1	7096	813	29	3		3	HGS	17	79653378	Silent	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08	13737240	79653378	1541832	45	3120										
ZSWIM4	65249	broad.mit.edu	37	chr19	13941049	13941049	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	tgcagaactggtattccttaTtcacaccagtggaggcggct	11	10	1	1			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr19:13941049T>C	ENST00000254323.2	+	13	2344	c.2155T>C	c.(2155-2157)Ttc>Ctc	p.F719L	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.F553L	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	719							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GTATTCCTTATTCACACCAGT	0.602																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2155-2157)Ttc>Ctc		zinc finger, SWIM-type containing 4							72	71	71					19																	13941049		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13941049T>C	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2155T>C	19.37:g.13941049T>C	ENSP00000254323:p.Phe719Leu		Somatic				ZSWIM4_ENST00000440752.2_Missense_Mutation_p.F553L	p.F719L	NM_023072.2	NP_075560.2	WXS	Illumina GAIIx	Phase_I	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2344	+			719						Missense_Mutation	SNP	ENST00000254323.2	37	c.2155T>C	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.340244	0.60963	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.49432	0.83;0.78	4.16	4.16	0.48862	.	0.000000	0.64402	D	0.000009	T	0.65249	0.2673	M	0.72353	2.195	0.51012	D	0.999901	D;D	0.76494	0.99;0.999	D;D	0.83275	0.979;0.996	T	0.68507	-0.5390	10	0.72032	D	0.01	-14.3196	11.1426	0.48411	0.0:0.0:0.0:1.0	.	553;719	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	L	719;553	ENSP00000254323:F719L;ENSP00000405278:F553L	ENSP00000254323:F719L	F	+	1	0	ZSWIM4	13802049	1.000000	0.71417	0.484000	0.27391	0.406000	0.30931	7.704000	0.84595	1.513000	0.48852	0.402000	0.26972	TTC		0.602	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		34	11	0	0	0	1	0	34	11					C	13941049	T	C	13941049	3	2	32	1	0	0	0	0	1	0	0	0	18258	1493	52	4	2205	4	ZSWIM4	19	13941049	Missense_Mutation	SNP	T	TCGA-N8-A56S-01A-11D-A28R-08		13941049	45187934	46	3121										
NWD1	284434	broad.mit.edu	37	chr19	16872832	16872832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	gagcgctacctgtcaggatcCgagagagccaagaggcatgg	15	10	1	2	rs544074252		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr19:16872832C>T	ENST00000552788.1	+	6	2016	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	NWD1_ENST00000549814.1_Silent_p.S672S|NWD1_ENST00000523826.1_Silent_p.S466S|NWD1_ENST00000524140.2_Silent_p.S672S|NWD1_ENST00000339803.6_Silent_p.S537S|NWD1_ENST00000379808.3_Silent_p.S672S			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	672							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						TGTCAGGATCCGAGAGAGCCA	0.577																																						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.(2014-2016)tcC>tcT		NACHT and WD repeat domain containing 1							103	78	86					19																	16872832		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16872832C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2016C>T	19.37:g.16872832C>T			Somatic				NWD1_ENST00000379808.3_Silent_p.S672S|NWD1_ENST00000552788.1_Silent_p.S672S|NWD1_ENST00000523826.1_Silent_p.S466S|NWD1_ENST00000339803.6_Silent_p.S537S|NWD1_ENST00000549814.1_Silent_p.S672S	p.S672S	NM_001007525.3	NP_001007526.3	WXS	Illumina GAIIx	Phase_I	Q149M9	NWD1_HUMAN			8	2434	+			672					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.2016C>T																																																																																					0.577	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		13	38	0	0	0	1	0	13	38					T	16872832	C	T	16872832	2	4	32	1	0	0	0	0	0	0	0	1	10790	639	23	1		1	NWD1	19	16872832	Silent	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08	2931783	16872832	42256151	47	3122										
LPIN3	64900	broad.mit.edu	37	chr20	39981249	39981249	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	tctgcctctgtgcccagagaAattcaaccagcacagcgtct	8	14	4	1			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr20:39981249A>T	ENST00000373257.3	+	10	1458	c.1367A>T	c.(1366-1368)aAa>aTa	p.K456I		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	456					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|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)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TGCCCAGAGAAATTCAACCAG	0.567																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1366-1368)aAa>aTa		lipin 3							153	165	161					20																	39981249		2203	4300	6503	SO:0001583	missense	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39981249A>T	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1367A>T	20.37:g.39981249A>T	ENSP00000362354:p.Lys456Ile		Somatic					p.K456I	NM_022896.1	NP_075047.1	WXS	Illumina GAIIx	Phase_I	Q9BQK8	LPIN3_HUMAN			10	1458	+		Myeloproliferative disorder(115;0.000739)	456					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	c.1367A>T	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.037850	0.54896	.	.	ENSG00000132793	ENST00000373257;ENST00000373259	D	0.81659	-1.52	4.98	3.87	0.44632	.	0.186071	0.44285	D	0.000468	D	0.83797	0.5332	M	0.66939	2.045	0.48571	D	0.999673	P;B	0.40050	0.7;0.082	P;B	0.54270	0.747;0.025	T	0.82343	-0.0504	9	.	.	.	-20.1409	7.5258	0.27653	0.828:0.0:0.172:0.0	.	457;456	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	I	456;120	ENSP00000362354:K456I	.	K	+	2	0	LPIN3	39414663	0.999000	0.42202	1.000000	0.80357	0.250000	0.25880	2.125000	0.42016	1.877000	0.54381	0.460000	0.39030	AAA		0.567	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		14	594	0	0	0	1	0	14	594					T	39981249	A	T	39981249	3	4	32	1	0	0	0	0	1	0	0	0	8929	14	1	4	1401	4	LPIN3	20	39981249	Missense_Mutation	SNP	A	TCGA-N8-A56S-01A-11D-A28R-08		39981249	23044271	48	3123										
LAMA5	3911	broad.mit.edu	37	chr20	60885521	60885521	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	gggaagaacaggcccgcctcCagggggcccaagatgcaggg	17	12	0	2			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr20:60885521C>A	ENST00000252999.3	-	76	10620	c.10554G>T	c.(10552-10554)ctG>ctT	p.L3518L	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3518					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)			GGCCCGCCTCCAGGGGGCCCA	0.682																																						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.(10552-10554)ctG>ctT		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						18	24	22					20																	60885521		2144	4212	6356	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60885521C>A	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.10554G>T	20.37:g.60885521C>A			Somatic					p.L3518L	NM_005560.3	NP_005551.3	WXS	Illumina GAIIx	Phase_I	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		76	10620	-	Breast(26;1.57e-08)		3518					Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.10554G>T	CCDS33502.1																																																																																				0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		22	72	1	0	7.41877e-09	1	8.42131e-09	22	72					A	60885521	C	A	60885521	2	1	32	1	0	0	0	0	0	0	0	1	8618	581	21	5		5	LAMA5	20	60885521	Silent	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08	20904272	60885521	2139999	49	3124										
U2AF1	7307	broad.mit.edu	37	chr21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	tcggtttattgtgcaaccgaGagcacctgtctccatgacga	10	11	1	2	rs371769427		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"CLL, MDS"																																	ENST00000291552.4				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"CLL, MDS"		57	Substitution - Missense(57)	p.S34F(45)|p.S34Y(12)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(100-102)tCt>tTt		U2 small nuclear RNA auxiliary factor 1		G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67	64	65		101,101,	5.5	1	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44524456G>A	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe		Somatic				U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR	p.S34F	NM_006758.2	NP_006749.1	WXS	Illumina GAIIx	Phase_I	Q01081	U2AF1_HUMAN			2	193	-			34					Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.101C>T	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		11	30	0	0	0	1	0	11	30					A	44524456	G	A	44524456	3	1	32	1	0	0	0	0	1	0	0	0	16836	942	33	3	720	3	U2AF1	21	44524456	Missense_Mutation	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08		44524456	3605439	50	3125										
CSF2RB	1439	broad.mit.edu	37	chr22	37325831	37325831	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	gcaagtggagcccagaggttTgctgggactcccagccaggt	15	11	0	1			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr22:37325831T>C	ENST00000403662.3	+	6	922	c.700T>C	c.(700-702)Tgc>Cgc	p.C234R	CSF2RB_ENST00000262825.5_Missense_Mutation_p.C234R|CSF2RB_ENST00000406230.1_Missense_Mutation_p.C234R|CSF2RB_ENST00000536485.1_Missense_Mutation_p.C175R			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	234	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCAGAGGTTTGCTGGGACTC	0.657																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(700-702)Tgc>Cgc		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						20	22	21					22																	37325831		2203	4299	6502	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37325831T>C	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.700T>C	22.37:g.37325831T>C	ENSP00000384053:p.Cys234Arg		Somatic				CSF2RB_ENST00000403662.3_Missense_Mutation_p.C234R|CSF2RB_ENST00000406230.1_Missense_Mutation_p.C234R|CSF2RB_ENST00000536485.1_Missense_Mutation_p.C175R	p.C234R	NM_000395.2	NP_000386.1	WXS	Illumina GAIIx	Phase_I	P32927	IL3RB_HUMAN			6	917	+			234					Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.700T>C	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	T	0.328	-0.957964	0.02267	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	5.37	-2.15	0.07102	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.819720	0.02677	N	0.109164	T	0.35566	0.0936	N	0.01705	-0.755	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19289	-1.0310	10	0.23891	T	0.37	-2.3012	3.5044	0.07685	0.3617:0.3104:0.0:0.3279	.	234;234	P32927-2;P32927	.;IL3RB_HUMAN	R	234;234;234;234;154;175	ENSP00000384053:C234R;ENSP00000262825:C234R;ENSP00000385271:C234R;ENSP00000393585:C154R;ENSP00000440003:C175R	ENSP00000262825:C234R	C	+	1	0	CSF2RB	35655777	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.223000	0.02962	0.055000	0.16094	-0.801000	0.03215	TGC		0.657	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		18	19	0	0	0	1	0	18	19					C	37325831	T	C	37325831	3	2	32	1	0	0	0	0	1	0	0	0	3937	1812	63	4	718	4	CSF2RB	22	37325831	Missense_Mutation	SNP	T	TCGA-N8-A56S-01A-11D-A28R-08		37325831	13978735	51	3126										
ASB9	140462	broad.mit.edu	37	chrX	15272961	15272961	+	Missense_Mutation	SNP	C	C	A													0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	gccgtgatgatgttcacagcCcacccctgaaggaggggaaa							TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:15272961C>A	ENST00000380488.4	-	3	453	c.180G>T	c.(178-180)tgG>tgT	p.W60C	ASB9_ENST00000380483.3_Missense_Mutation_p.W60C|ASB9_ENST00000380485.3_Missense_Mutation_p.W60C|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000546332.1_Missense_Mutation_p.W60C	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	60					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					TGTTCACAGCCCACCCCTGAA	0.502																																						ENST00000546332.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(178-180)tgG>tgT		ankyrin repeat and SOCS box containing 9							97	92	94					X																	15272961		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15272961C>A	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"Ankyrin repeat domain containing"	17184	protein-coding gene	gene with protein product		300890	"ankyrin repeat and SOCS box-containing 9"			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.180G>T	X.37:g.15272961C>A	ENSP00000369855:p.Trp60Cys		Somatic				ASB9_ENST00000380483.3_Missense_Mutation_p.W60C|ASB9_ENST00000380488.4_Missense_Mutation_p.W60C|ASB9_ENST00000380485.3_Missense_Mutation_p.W60C|ASB9_ENST00000473862.1_5'UTR	p.W60C	NM_001168531.1	NP_001162003.1	WXS	Illumina GAIIx	Phase_I	Q96DX5	ASB9_HUMAN			4	663	-	Hepatocellular(33;0.183)		60					A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.180G>T	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648226	0.29336	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.64085	-0.03;-0.08;-0.08;-0.08	5.93	4.99	0.66335	Ankyrin repeat-containing domain (3);	0.546525	0.21448	N	0.074376	T	0.39036	0.1063	N	0.01168	-0.975	0.23227	N	0.998088	P;B;P;B	0.50943	0.879;0.194;0.94;0.437	P;B;P;B	0.52159	0.606;0.121;0.691;0.394	T	0.18587	-1.0332	9	.	.	.	-19.3766	6.9979	0.24793	0.297:0.5723:0.1307:0.0	.	60;60;60;60	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	C	60	ENSP00000369850:W60C;ENSP00000369852:W60C;ENSP00000369855:W60C;ENSP00000438943:W60C	.	W	-	3	0	ASB9	15182882	0.818000	0.29161	0.976000	0.42696	0.264000	0.26372	2.522000	0.45572	2.494000	0.84150	0.600000	0.82982	TGG		0.502	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			5	123	1	0	0.014758	1	0.0149358	5	123					A	15272961	C	A	15272961	3	1	32	1	0	0	0	0	1	0	0	0	1030	624	22	5	753	5	ASB9	23	15272961	Missense_Mutation	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08		15272961	139997599	52	3127	11	2								
ASB9	140462	broad.mit.edu	37	chrX	15272962	15272962	+	Missense_Mutation	SNP	C	C	A													0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	ccgtgatgatgttcacagccCacccctgaaggaggggaaac							TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:15272962C>A	ENST00000380488.4	-	3	452	c.179G>T	c.(178-180)tGg>tTg	p.W60L	ASB9_ENST00000380483.3_Missense_Mutation_p.W60L|ASB9_ENST00000380485.3_Missense_Mutation_p.W60L|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000546332.1_Missense_Mutation_p.W60L	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	60					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GTTCACAGCCCACCCCTGAAG	0.502																																						ENST00000546332.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(178-180)tGg>tTg		ankyrin repeat and SOCS box containing 9							96	91	93					X																	15272962		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15272962C>A	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"Ankyrin repeat domain containing"	17184	protein-coding gene	gene with protein product		300890	"ankyrin repeat and SOCS box-containing 9"			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.179G>T	X.37:g.15272962C>A	ENSP00000369855:p.Trp60Leu		Somatic				ASB9_ENST00000380483.3_Missense_Mutation_p.W60L|ASB9_ENST00000380488.4_Missense_Mutation_p.W60L|ASB9_ENST00000380485.3_Missense_Mutation_p.W60L|ASB9_ENST00000473862.1_5'UTR	p.W60L	NM_001168531.1	NP_001162003.1	WXS	Illumina GAIIx	Phase_I	Q96DX5	ASB9_HUMAN			4	662	-	Hepatocellular(33;0.183)		60					A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.179G>T	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	C	8.080	0.772125	0.16051	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.63417	-0.04;0.02;0.02;0.02	5.93	4.89	0.63831	Ankyrin repeat-containing domain (3);	0.546525	0.21448	N	0.074376	T	0.31670	0.0804	N	0.01424	-0.875	0.09310	N	0.999999	B;B;B;B	0.28470	0.213;0.094;0.061;0.004	B;B;B;B	0.30855	0.075;0.121;0.042;0.019	T	0.19451	-1.0305	9	.	.	.	-19.3766	9.3677	0.38234	0.0:0.7724:0.0:0.2276	.	60;60;60;60	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	L	60	ENSP00000369850:W60L;ENSP00000369852:W60L;ENSP00000369855:W60L;ENSP00000438943:W60L	.	W	-	2	0	ASB9	15182883	0.818000	0.29161	0.994000	0.49952	0.313000	0.28021	0.658000	0.24979	2.494000	0.84150	0.600000	0.82982	TGG		0.502	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			5	122	1	0	0.014758	1	0.0149358	5	122					A	15272962	C	A	15272962	3	1	32	1	0	0	0	0	1	0	0	0	1030	595	21	5	754	5	ASB9	23	15272962	Missense_Mutation	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08	1	15272962	139997598	53	3128	11	2								
NHS	4810	broad.mit.edu	37	chrX	17710478	17710478	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	accggagccggagcgatcgcCgagagcaaagagcagctgcc	15	13	0	2			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:17710478C>T	ENST00000380060.3	+	3	1080	c.742C>T	c.(742-744)Cga>Tga	p.R248*	NHS_ENST00000398097.3_Nonsense_Mutation_p.R71*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	248	WAVE homology domain (WHD).				cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GAGCGATCGCCGAGAGCAAAG	0.532																																						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	GRCh37	CM085588	NHS	M		c.(742-744)Cga>Tga		Nance-Horan syndrome (congenital cataracts and dental anomalies)							91	82	85					X																	17710478		2203	4300	6503	SO:0001587	stop_gained	4810					nucleus		g.chrX:17710478C>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.742C>T	X.37:g.17710478C>T	ENSP00000369400:p.Arg248*		Somatic				NHS_ENST00000398097.3_Nonsense_Mutation_p.R71*	p.R248*	NM_198270.2	NP_938011.1	WXS	Illumina GAIIx	Phase_I	Q6T4R5	NHS_HUMAN			3	1080	+	Hepatocellular(33;0.183)		248					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Nonsense_Mutation	SNP	ENST00000380060.3	37	c.742C>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	39	7.821517	0.98507	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	.	.	.	5.55	1.44	0.22558	.	0.103067	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8183	8.9864	0.35997	0.5501:0.322:0.1279:0.0	.	.	.	.	X	248;71;69	.	ENSP00000369397:R69X	R	+	1	2	NHS	17620399	0.283000	0.24277	0.307000	0.25127	0.954000	0.61252	0.078000	0.14761	0.230000	0.21059	0.600000	0.82982	CGA		0.532	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		33	62	0	0	0	1	0	33	62					T	17710478	C	T	17710478	4	4	32	1	0	0	0	0	0	1	0	0	10420	644	23	1	790	1	NHS	23	17710478	Nonsense_Mutation	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08	2437516	17710478	137560082	54	3129										
MAGEB1	4112	broad.mit.edu	37	chrX	30268692	30268692	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	agacccagggtctcaaggttGctcacgccactgcagcagag	12	13	2	2	rs2856741		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:30268692G>T	ENST00000378981.3	+	4	403	c.82G>T	c.(82-84)Gct>Tct	p.A28S	MAGEB1_ENST00000397548.2_Missense_Mutation_p.A28S|MAGEB1_ENST00000397550.1_Missense_Mutation_p.A28S	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	28				A -> R (in Ref. 1; CAA57889). {ECO:0000305}.						NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TCTCAAGGTTGCTCACGCCAC	0.602																																						ENST00000378981.3																			0				NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(82-84)Gct>Tct		melanoma antigen family B, 1							46	34	38					X																	30268692		2202	4299	6501	SO:0001583	missense	4112							g.chrX:30268692G>T		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 10", "cancer/testis antigen family 3, member 1"	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.82G>T	X.37:g.30268692G>T	ENSP00000368264:p.Ala28Ser		Somatic				MAGEB1_ENST00000397548.2_Missense_Mutation_p.A28S|MAGEB1_ENST00000397550.1_Missense_Mutation_p.A28S	p.A28S	NM_002363.4	NP_002354.2	WXS	Illumina GAIIx	Phase_I	P43366	MAGB1_HUMAN			4	403	+			28	A -> R (in Ref. 1; CAA57889).				B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.82G>T	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930978	0.52866	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.06608	3.28;3.28;3.28	3.99	2.16	0.27623	Melanoma associated antigen, MAGE, N-terminal (1);	0.488839	0.19491	N	0.112996	T	0.20659	0.0497	M	0.88031	2.925	0.09310	N	0.999998	D	0.58970	0.984	P	0.61070	0.883	T	0.06092	-1.0846	10	0.56958	D	0.05	.	4.7215	0.12920	0.1246:0.2178:0.6577:0.0	.	28	P43366	MAGB1_HUMAN	S	28	ENSP00000368264:A28S;ENSP00000380683:A28S;ENSP00000380681:A28S	ENSP00000368264:A28S	A	+	1	0	MAGEB1	30178613	0.378000	0.25114	0.227000	0.23927	0.006000	0.05464	0.777000	0.26718	0.443000	0.26582	0.600000	0.82982	GCT		0.602	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		7	24	1	0	0.00198382	1	0.00210938	7	24					T	30268692	G	T	30268692	3	4	32	1	0	0	0	0	1	0	0	0	9181	1319	46	5	84	5	MAGEB1	23	30268692	Missense_Mutation	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08	12558214	30268692	125001868	55	3130										
CLCN5	1184	broad.mit.edu	37	chrX	49845343	49845343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	tctcttgtcaaggtgtttgcGccttatgcctgtggctctgg	12	10	3	0	rs140312372	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:49845343G>A	ENST00000307367.2	+	5	777	c.486G>A	c.(484-486)gcG>gcA	p.A162A	CLCN5_ENST00000376091.3_Silent_p.A232A|CLCN5_ENST00000376088.3_Silent_p.A232A|CLCN5_ENST00000376108.3_Silent_p.A162A			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	162					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)					AGGTGTTTGCGCCTTATGCCT	0.408																																						ENST00000376088.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(694-696)gcG>gcA		chloride channel, voltage-sensitive 5		G	,,	1,3834		0,0,1,1632,570	191	146	161		486,696,696	-6.9	0.8	X	dbSNP_134	161	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous,coding-synonymous	CLCN5	NM_000084.2,NM_001127898.1,NM_001127899.1	,,	0,0,2,4060,2441	AA,AG,A,GG,G		0.0149,0.0261,0.0189	,,	162/747,232/817,232/817	49845343	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49845343G>A	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	ENST00000307367.2:c.486G>A	X.37:g.49845343G>A			Somatic				CLCN5_ENST00000376091.3_Silent_p.A232A|CLCN5_ENST00000376108.3_Silent_p.A162A|CLCN5_ENST00000307367.2_Silent_p.A162A	p.A232A	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	WXS	Illumina GAIIx	Phase_I	P51795	CLCN5_HUMAN			8	1337	+	Ovarian(276;0.236)		162					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Silent	SNP	ENST00000307367.2	37	c.696G>A	CCDS14328.1																																																																																				0.408	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			20	43	0	0	0	1	0	20	43					A	49845343	G	A	49845343	2	1	32	1	0	0	0	0	0	0	0	1	3468	1074	38	1		1	CLCN5	23	49845343	Silent	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08	19576651	49845343	105425217	56	3131										
FAM123B	139285	broad.mit.edu	37	chrX	63411431	63411431	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	gggcacgtgcctcctgggccTcaagctgctcccgccgaagc	13	17	1	0			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:63411431T>A	ENST00000330258.3	-	2	2008	c.1736A>T	c.(1735-1737)gAg>gTg	p.E579V	AMER1_ENST00000374869.3_Missense_Mutation_p.E579V|AMER1_ENST00000403336.1_Missense_Mutation_p.E579V	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	579					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CTCCTGGGCCTCAAGCTGCTC	0.612																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(1735-1737)gAg>gTg		APC membrane recruitment protein 1							55	53	54					X																	63411431		2203	4300	6503	SO:0001583	missense	139285							g.chrX:63411431T>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1736A>T	X.37:g.63411431T>A	ENSP00000329117:p.Glu579Val		Somatic				AMER1_ENST00000403336.1_Missense_Mutation_p.E579V|AMER1_ENST00000374869.3_Missense_Mutation_p.E579V	p.E579V	NM_152424.3	NP_689637.3	WXS	Illumina GAIIx	Phase_I					2	2008	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.1736A>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	T	11.88	1.770721	0.31320	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.52295	0.75;0.67;0.75	4.68	4.68	0.58851	.	0.000000	0.56097	D	0.000035	T	0.64450	0.2599	M	0.65498	2.005	0.40785	D	0.983209	D	0.89917	1.0	D	0.83275	0.996	T	0.68390	-0.5421	10	0.66056	D	0.02	-17.0786	11.0928	0.48125	0.0:0.0:0.0:1.0	.	579	Q5JTC6	F123B_HUMAN	V	579	ENSP00000364003:E579V;ENSP00000329117:E579V;ENSP00000384722:E579V	ENSP00000329117:E579V	E	-	2	0	FAM123B	63328156	1.000000	0.71417	0.956000	0.39512	0.188000	0.23474	2.083000	0.41615	2.053000	0.61076	0.486000	0.48141	GAG		0.612	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		4	83	0	0	0	1	0	4	83					A	63411431	T	A	63411431	3	1	32	1	0	0	0	0	1	0	0	0	5428	1551	54	4	1675	4	FAM123B	23	63411431	Missense_Mutation	SNP	T	TCGA-N8-A56S-01A-11D-A28R-08	13566088	63411431	91859129	57	3132										
ODZ1	10178	broad.mit.edu	37	chrX	123838998	123838998	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	aaaggtgcttcgaggaagagGcctgggagggggcgagtaca	19	6	0	1	rs138121113		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:123838998G>T	ENST00000371130.3	-	5	943	c.880C>A	c.(880-882)Cct>Act	p.P294T	TENM1_ENST00000422452.2_Missense_Mutation_p.P294T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	294	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)										CGAGGAAGAGGCCTGGGAGGG	0.522																																						ENST00000422452.2																			0											c.(880-882)Cct>Act		teneurin transmembrane protein 1							144	133	136					X																	123838998		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123838998G>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.880C>A	X.37:g.123838998G>T	ENSP00000360171:p.Pro294Thr		Somatic				TENM1_ENST00000371130.3_Missense_Mutation_p.P294T	p.P294T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina GAIIx	Phase_I					5	943	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.880C>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378137	0.82682	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.33438	1.41;1.41	5.39	5.39	0.77823	Teneurin intracellular, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.55784	0.1942	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.984;0.989	T	0.54774	-0.8243	10	0.46703	T	0.11	.	18.4435	0.90676	0.0:0.0:1.0:0.0	.	294;294;294	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	T	294	ENSP00000360171:P294T;ENSP00000403954:P294T	ENSP00000360171:P294T	P	-	1	0	ODZ1	123666679	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.767000	0.98960	2.384000	0.81235	0.523000	0.50628	CCT		0.522	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		10	193	1	0	0.00829132	1	0.00870588	10	193					T	123838998	G	T	123838998	3	4	32	1	0	0	0	0	1	0	0	0	10843	1203	42	5	7430	5	ODZ1	23	123838998	Missense_Mutation	SNP	G	TCGA-N8-A56S-01A-11D-A28R-08	60427567	123838998	31431562	58	3133										
MAGEC1	9947	broad.mit.edu	37	chrX	140993983	140993983	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	gtacttttgagggttttgccCagtcttctctccagattcct	8	11	2	2			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:140993983C>A	ENST00000285879.4	+	4	1079	c.793C>A	c.(793-795)Cag>Aag	p.Q265K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	265								p.Q265K(1)		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)					GGGTTTTGCCCAGTCTTCTCT	0.488										HNSCC(15;0.026)																												ENST00000285879.4																			1	Substitution - Missense(1)	p.Q265K(1)	lung(1)	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.(793-795)Cag>Aag		melanoma antigen family C, 1							79	62	68					X																	140993983		2081	3795	5876	SO:0001583	missense	9947						protein binding	g.chrX:140993983C>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.793C>A	X.37:g.140993983C>A	ENSP00000285879:p.Gln265Lys	HNSCC(15;0.026)	Somatic				MAGEC1_ENST00000406005.2_Intron	p.Q265K	NM_005462.4	NP_005453.2	WXS	Illumina GAIIx	Phase_I	O60732	MAGC1_HUMAN			4	1079	+	Acute lymphoblastic leukemia(192;6.56e-05)		265					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.793C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	N	0.134	-1.109795	0.01813	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.17054	4.45;2.3	.	.	.	.	.	.	.	.	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.32534	-0.9903	8	0.72032	D	0.01	.	2.6709	0.05067	0.0:0.517:0.0:0.483	.	265	O60732	MAGC1_HUMAN	K	265;67;66	ENSP00000285879:Q265K;ENSP00000359542:Q67K	ENSP00000285879:Q265K	Q	+	1	0	MAGEC1	140821649	0.001000	0.12720	0.018000	0.16275	0.018000	0.09664	0.088000	0.14979	0.148000	0.19059	0.150000	0.16122	CAG		0.488	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		5	164	1	0	0.014758	1	0.0149358	5	164					A	140993983	C	A	140993983	3	1	32	1	0	0	0	0	1	0	0	0	9189	595	21	5	799	5	MAGEC1	23	140993983	Missense_Mutation	SNP	C	TCGA-N8-A56S-01A-11D-A28R-08	17154985	140993983	14276577	59	3134										
SLITRK2	84631	broad.mit.edu	37	chrX	144906237	144906237	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	tattgctgagcgagtcaaggAacttcccagcgcaggcctag	12	11	1	1			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:144906237A>G	ENST00000370490.1	+	1	6549	c.2294A>G	c.(2293-2295)gAa>gGa	p.E765G	SLITRK2_ENST00000428560.2_Missense_Mutation_p.E765G|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E765G|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E765G|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E765G			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	765					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)					CGAGTCAAGGAACTTCCCAGC	0.478																																						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.(2293-2295)gAa>gGa		SLIT and NTRK-like family, member 2							157	142	147					X																	144906237		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144906237A>G	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.2294A>G	X.37:g.144906237A>G	ENSP00000359521:p.Glu765Gly		Somatic				SLITRK2_ENST00000447897.2_Missense_Mutation_p.E765G|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E765G|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E765G|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E765G	p.E765G			WXS	Illumina GAIIx	Phase_I	Q9H156	SLIK2_HUMAN			1	6549	+	Acute lymphoblastic leukemia(192;6.56e-05)		765					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.2294A>G	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.680738	0.47886	.	.	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.52	5.52	0.82312	.	0.117591	0.56097	D	0.000024	T	0.45736	0.1357	L	0.44542	1.39	0.50313	D	0.999864	B	0.09022	0.002	B	0.06405	0.002	T	0.38457	-0.9660	10	0.51188	T	0.08	-9.3067	12.4949	0.55923	1.0:0.0:0.0:0.0	.	765	Q9H156	SLIK2_HUMAN	G	765	ENSP00000411681:E765G;ENSP00000359521:E765G;ENSP00000397015:E765G;ENSP00000407347:E765G;ENSP00000412010:E765G	ENSP00000359521:E765G	E	+	2	0	SLITRK2	144713929	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	7.161000	0.77505	1.856000	0.53863	0.486000	0.48141	GAA		0.478	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		20	267	0	0	0	1	0	20	267					G	144906237	A	G	144906237	3	3	32	1	0	0	0	0	1	0	0	0	14758	246	9	4	2296	4	SLITRK2	23	144906237	Missense_Mutation	SNP	A	TCGA-N8-A56S-01A-11D-A28R-08	3912254	144906237	10364323	60	3135										
SRPK3	26576	broad.mit.edu	37	chrX	153050878	153050883	+	In_Frame_Del	DEL	CACAGT	CACAGT	-													0.1	6	1	1.45833333333333	4.375	1.28676470588235	0.0800865800865801	0.605042016806723	0	gtggcccctagagcaggccaCacagttcagcgcctttctgc					rs376315195		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:153050878_153050883delCACAGT	ENST00000370101.3	+	15	1653_1658	c.1607_1612delCACAGT	c.(1606-1614)acacagttc>atc	p.536_538TQF>I	SRPK3_ENST00000393786.3_In_Frame_Del_p.502_504TQF>I|SRPK3_ENST00000489426.1_In_Frame_Del_p.603_605TQF>I|SRPK3_ENST00000370100.1_In_Frame_Del_p.461_463TQF>I|SRPK3_ENST00000370104.1_In_Frame_Del_p.535_537TQF>I|SRPK3_ENST00000370108.3_In_Frame_Del_p.503_505TQF>I|IDH3G_ENST00000497043.1_5'Flank	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	536	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)					GAGCAGGCCACACAGTTCAGCGCCTT	0.626																																					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.(1807-1815)atc>a		SRSF protein kinase 3																																				SO:0001651	inframe_deletion	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153050878_153050883delCACAGT	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.1607_1612delCACAGT	X.37:g.153050878_153050883delCACAGT	ENSP00000359119:p.Thr536_Phe538delinsIle		Somatic				SRPK3_ENST00000393786.3_In_Frame_Del_p.TQF502del|SRPK3_ENST00000370101.3_In_Frame_Del_p.TQF536del|SRPK3_ENST00000370100.1_In_Frame_Del_p.TQF461del|SRPK3_ENST00000370104.1_In_Frame_Del_p.TQF535del|SRPK3_ENST00000370108.3_In_Frame_Del_p.TQF503del	p.TQF603del			WXS	Illumina GAIIx	Phase_I	Q9UPE1	SRPK3_HUMAN			21	4174_4179	+	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)		536					Q13583|Q4F970|Q562F5|Q9UM62	In_Frame_Del	DEL	ENST00000370101.3	37	c.1808_1813delCACAGT	CCDS35441.1																																																																																				0.626	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370		49	97						49	97	---	---	---	---	-	153050883	CACAGT	-	153050878	7	5	32	1	0	1	0	1	0	0	0	0	15176	478	17	0	1665	0	SRPK3	23	153050878	In_Frame_Del	DEL	CACAGT	TCGA-N8-A56S-01A-11D-A28R-08	8144641	153050878	2219682	61	3136										
FCN3	8547	broad.mit.edu	37	chr1	27697155	27697155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	cctcaccgaggaggcggaagGtcgcatagtgggcgaaagta	16	9	1	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:27697155G>T	ENST00000270879.4	-	7	595	c.590C>A	c.(589-591)aCc>aAc	p.T197N	FCN3_ENST00000354982.2_Missense_Mutation_p.T186N	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	197	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)		GAGGCGGAAGGTCGCATAGTG	0.577																																						ENST00000270879.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7						c.(589-591)aCc>aAc		ficolin (collagen/fibrinogen domain containing) 3							150	150	150					1																	27697155		2203	4300	6503	SO:0001583	missense	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27697155G>T	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.590C>A	1.37:g.27697155G>T	ENSP00000270879:p.Thr197Asn		Somatic				FCN3_ENST00000354982.2_Missense_Mutation_p.T186N	p.T197N	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)	7	595	-		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)	197			Fibrinogen C-terminal.		Q6IBJ5|Q8WW86	Missense_Mutation	SNP	ENST00000270879.4	37	c.590C>A	CCDS300.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825832	0.32237	.	.	ENSG00000142748	ENST00000270879;ENST00000354982;ENST00000498393	T;T	0.76578	-1.03;-1.03	4.62	1.25	0.21368	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	2.066920	0.02623	N	0.103407	T	0.61862	0.2381	N	0.05554	-0.025	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.12156	0.007;0.006	T	0.50825	-0.8782	10	0.30854	T	0.27	.	9.1783	0.37125	0.0:0.3501:0.5086:0.1412	.	186;197	Q6UXM4;O75636	.;FCN3_HUMAN	N	197;186;75	ENSP00000270879:T197N;ENSP00000347077:T186N	ENSP00000270879:T197N	T	-	2	0	FCN3	27569742	0.074000	0.21230	0.011000	0.14972	0.478000	0.33099	1.212000	0.32394	0.580000	0.29522	0.558000	0.71614	ACC		0.577	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			5	120	1	0	0.0215528	1	0.0221627	5	120					T	27697155	G	T	27697155	3	4	33	1	0	0	0	0	1	0	0	0	5801	1261	44	5	317	5	FCN3	1	27697155	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08		27697155	221553466	1	3137										
NTRK1	4914	broad.mit.edu	37	chr1	156843598	156843598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	cggcagccaatgagaccgtgCggcacgggtgtctgcgcctc	15	14	1	1	rs375878564		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:156843598C>T	ENST00000524377.1	+	8	1065	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	NTRK1_ENST00000392302.2_Missense_Mutation_p.R312W|NTRK1_ENST00000368196.3_Missense_Mutation_p.R342W|NTRK1_ENST00000358660.3_Missense_Mutation_p.R342W	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	342	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			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)	TGAGACCGTGCGGCACGGGTG	0.632			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																												ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"neurotrophic tyrosine kinase, receptor, type 1"			E	"TPM3, TPR, TFG"		papillary thyroid		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.(1024-1026)Cgg>Tgg		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)	C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	56	40	45		934,1024,1024	5.2	1	1		45	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	NTRK1	NM_001007792.1,NM_001012331.1,NM_002529.3	101,101,101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	312/761,342/791,342/797	156843598	1,13003	2203	4299	6502	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156843598C>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1024C>T	1.37:g.156843598C>T	ENSP00000431418:p.Arg342Trp	TSP Lung(10;0.080)	Somatic				NTRK1_ENST00000524377.1_Missense_Mutation_p.R342W|NTRK1_ENST00000392302.2_Missense_Mutation_p.R312W|NTRK1_ENST00000358660.3_Missense_Mutation_p.R342W	p.R342W	NM_001012331.1	NP_001012331.1	WXS	Illumina GAIIx	Phase_I	P04629	NTRK1_HUMAN			8	1144	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		342			Ig-like C2-type 2.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1024C>T	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205314	0.39003	0.0	1.16E-4	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	6.17	5.19	0.71726	Immunoglobulin-like fold (1);	0.119055	0.37955	N	0.001861	T	0.37156	0.0993	L	0.58101	1.795	0.09310	N	1	D;D;D;D	0.89917	0.997;1.0;0.999;1.0	P;P;P;P	0.62560	0.881;0.764;0.719;0.904	T	0.08371	-1.0725	10	0.45353	T	0.12	.	15.3558	0.74425	0.2106:0.7894:0.0:0.0	.	342;342;342;312	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	W	312;342;342;342	ENSP00000376120:R312W;ENSP00000357179:R342W;ENSP00000431418:R342W;ENSP00000351486:R342W	ENSP00000351486:R342W	R	+	1	2	NTRK1	155110222	0.000000	0.05858	0.963000	0.40424	0.306000	0.27790	0.183000	0.16919	2.941000	0.99782	0.655000	0.94253	CGG		0.632	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		23	17	0	0	0	1	0	23	17					T	156843598	C	T	156843598	3	4	33	1	0	0	0	0	1	0	0	0	10715	759	27	1	1184	1	NTRK1	1	156843598	Missense_Mutation	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08	129146443	156843598	92407023	2	3138										
SLC9A11	284525	broad.mit.edu	37	chr1	173506126	173506126	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ttgctgcaccaattaatatcCgggctgcctctatttcaaga	7	11	2	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:173506126C>A	ENST00000367714.3	-	14	2032	c.1610G>T	c.(1609-1611)cGg>cTg	p.R537L	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.R435L	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	537					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AATTAATATCCGGGCTGCCTC	0.308																																						ENST00000367714.3																			0											c.(1609-1611)cGg>cTg		solute carrier family 9, member C2 (putative)							145	148	147					1																	173506126		2203	4297	6500	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173506126C>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.1610G>T	1.37:g.173506126C>A	ENSP00000356687:p.Arg537Leu		Somatic				SLC9C2_ENST00000536496.1_Missense_Mutation_p.R435L|SLC9C2_ENST00000466087.1_5'UTR	p.R537L	NM_178527.3	NP_848622.2	WXS	Illumina GAIIx	Phase_I	Q5TAH2	S9A11_HUMAN			14	2032	-			537					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.1610G>T	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063160	0.76187	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.24723	1.84;1.84	5.52	5.52	0.82312	.	0.000000	0.52532	D	0.000079	T	0.35128	0.0921	L	0.60455	1.87	0.30260	N	0.79325	D	0.89917	1.0	D	0.73380	0.98	T	0.09862	-1.0655	10	0.44086	T	0.13	-16.7085	14.9302	0.70908	0.0:1.0:0.0:0.0	.	537	Q5TAH2	S9A11_HUMAN	L	537;435	ENSP00000356687:R537L;ENSP00000445437:R435L	ENSP00000356687:R537L	R	-	2	0	SLC9A11	171772749	0.982000	0.34865	1.000000	0.80357	0.862000	0.49288	0.968000	0.29357	2.591000	0.87537	0.508000	0.49915	CGG		0.308	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		24	132	1	0	6.32553e-13	1	7.18211e-13	24	132					A	173506126	C	A	173506126	3	1	33	1	0	0	0	0	1	0	0	0	14726	652	23	5	1824	5	SLC9A11	1	173506126	Missense_Mutation	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08	16662528	173506126	75744495	3	3139										
FAM5B	57795	broad.mit.edu	37	chr1	177247778	177247778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	atctcccagttctgggccatGgacaccagccttcagcaccg	9	16	3	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:177247778G>A	ENST00000361539.4	+	7	1404	c.1092G>A	c.(1090-1092)atG>atA	p.M364I	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	364					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											TCTGGGCCATGGACACCAGCC	0.567																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(1090-1092)atG>atA									139	146	144					1																	177247778		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:177247778G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1092G>A	1.37:g.177247778G>A	ENSP00000354481:p.Met364Ile		Somatic				FAM5B_ENST00000478325.1_3'UTR	p.M364I	NM_021165.2	NP_066988.1	WXS	Illumina GAIIx	Phase_I	Q9C0B6	FAM5B_HUMAN			7	1404	+			364					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1092G>A	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968361	0.53614	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.14022	2.54	5.39	5.39	0.77823	.	0.484707	0.26045	N	0.026662	T	0.16896	0.0406	L	0.48642	1.525	0.49130	D	0.999755	B;B;B	0.17268	0.003;0.021;0.002	B;B;B	0.23419	0.007;0.046;0.004	T	0.03795	-1.1003	10	0.29301	T	0.29	-8.8917	18.7504	0.91812	0.0:0.0:1.0:0.0	.	114;259;364	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	I	114;364	ENSP00000354481:M364I	ENSP00000354481:M364I	M	+	3	0	FAM5B	175514401	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.455000	0.60075	2.528000	0.85240	0.655000	0.94253	ATG		0.567	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		15	579	0	0	0	1	0	15	579					A	177247778	G	A	177247778	3	1	33	1	0	0	0	0	1	0	0	0	5601	1348	47	3	1114	3	FAM5B	1	177247778	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	3741652	177247778	72002843	4	3140										
CRB1	23418	broad.mit.edu	37	chr1	197411423	197411423	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	gcgagcgctgcgaggtggacGtaagcagcctctccttttat	13	11	1	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:197411423G>T	ENST00000367400.3	+	11	4140		c.e11+1		CRB1_ENST00000535699.1_Splice_Site|CRB1_ENST00000367397.1_3'UTR|CRB1_ENST00000544212.1_Splice_Site|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000538660.1_Splice_Site|CRB1_ENST00000367399.2_Splice_Site	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated						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						CGAGGTGGACGTAAGCAGCCT	0.478																																						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	CS040833	CRB1	S		c.e11+1		crumbs homolog 1 (Drosophila)							198	182	187					1																	197411423		2203	4300	6503	SO:0001630	splice_region_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.chr1:197411423G>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.4005+1G>T	1.37:g.197411423G>T			Somatic				RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000544212.1_Splice_Site|CRB1_ENST00000538660.1_Splice_Site|CRB1_ENST00000367399.2_Splice_Site|CRB1_ENST00000535699.1_Splice_Site|CRB1_ENST00000367397.1_3'UTR		NM_201253.2	NP_957705.1	WXS	Illumina GAIIx	Phase_I	P82279	CRUM1_HUMAN			11	4140	+								A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Splice_Site	SNP	ENST00000367400.3	37		CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590390	0.86851	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000448952	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6189	0.95647	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRB1	195678046	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.916000	0.87491	2.629000	0.89072	0.591000	0.81541	.		0.478	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	Intron	9	196	1	0	0.000274275	1	0.000296	9	196					T	197411423	G	T	197411423	5	4	33	1	0	0	0	0	0	0	1	0	3850	1159	40	5	4048	5	CRB1	1	197411423	Splice_Site	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	20163645	197411423	51839198	5	3141										
CACNA1S	779	broad.mit.edu	37	chr1	201047049	201047049	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ggaggcggatgcagcggagcAcggagatgcccaggggtgtc	20	9	0	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:201047049A>G	ENST00000362061.3	-	11	1803	c.1577T>C	c.(1576-1578)gTg>gCg	p.V526A	CACNA1S_ENST00000367338.3_Missense_Mutation_p.V526A	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	526					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)	GCAGCGGAGCACGGAGATGCC	0.627																																						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.(1576-1578)gTg>gCg		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						66	53	57					1																	201047049		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.chr1:201047049A>G	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.1577T>C	1.37:g.201047049A>G	ENSP00000355192:p.Val526Ala		Somatic				CACNA1S_ENST00000367338.3_Missense_Mutation_p.V526A	p.V526A	NM_000069.2	NP_000060.2	WXS	Illumina GAIIx	Phase_I	Q13698	CAC1S_HUMAN			11	1803	-			526					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1577T>C	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.615533	0.87359	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98512	-4.97;-4.97	4.67	4.67	0.58626	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98513	0.9504	M	0.67517	2.055	0.53005	D	0.999966	D	0.61697	0.99	D	0.68483	0.958	D	0.99712	1.1007	10	0.87932	D	0	.	14.3741	0.66862	1.0:0.0:0.0:0.0	.	526	Q13698	CAC1S_HUMAN	A	526	ENSP00000355192:V526A;ENSP00000356307:V526A	ENSP00000355192:V526A	V	-	2	0	CACNA1S	199313672	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.303000	0.96183	1.860000	0.53959	0.519000	0.50382	GTG		0.627	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		5	91	0	0	0	1	0	5	91					G	201047049	A	G	201047049	3	3	33	1	0	0	0	0	1	0	0	0	2549	159	6	4	4180	4	CACNA1S	1	201047049	Missense_Mutation	SNP	A	TCGA-N9-A4PZ-01A-22D-A28R-08	3635626	201047049	48203572	6	3142										
ADIPOR1	51094	broad.mit.edu	37	chr1	202915580	202915580	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	cactcaccaagcagatgggtCcagatgttgccagtttctgt	10	11	2	2			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:202915580C>T	ENST00000340990.5	-	4	715	c.417G>A	c.(415-417)tgG>tgA	p.W139*	ADIPOR1_ENST00000367254.3_Nonsense_Mutation_p.W139*|ADIPOR1_ENST00000436244.1_Nonsense_Mutation_p.W139*	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	139					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GCAGATGGGTCCAGATGTTGC	0.478																																						ENST00000340990.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16						c.(415-417)tgG>tgA		adiponectin receptor 1							144	131	136					1																	202915580		2203	4300	6503	SO:0001587	stop_gained	51094				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202915580C>T		CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"GPCR / Unclassified : Adiponectin receptors"	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.417G>A	1.37:g.202915580C>T	ENSP00000341785:p.Trp139*		Somatic				ADIPOR1_ENST00000367254.3_Nonsense_Mutation_p.W139*|ADIPOR1_ENST00000436244.1_Nonsense_Mutation_p.W139*	p.W139*	NM_015999.4	NP_057083.2	WXS	Illumina GAIIx	Phase_I	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		4	715	-			139					B3KMB0|Q53HS7|Q53YY6|Q9Y360	Nonsense_Mutation	SNP	ENST00000340990.5	37	c.417G>A	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	C	39	7.587930	0.98374	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000367254;ENST00000426229	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	.	.	.	X	139	.	ENSP00000341785:W139X	W	-	3	0	ADIPOR1	201182203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TGG		0.478	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2	NM_015999		34	145	0	0	0	1	0	34	145					T	202915580	C	T	202915580	4	4	33	1	0	0	0	0	0	1	0	0	318	856	30	3	730	3	ADIPOR1	1	202915580	Nonsense_Mutation	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08	1868531	202915580	46335041	7	3143										
GALNT2	2590	broad.mit.edu	37	chr1	230415077	230415077	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	acagatcgagggcaactccaAgctgaggcacgtgggcagca	14	11	0	2			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:230415077A>C	ENST00000366672.4	+	16	1661	c.1589A>C	c.(1588-1590)aAg>aCg	p.K530T	GALNT2_ENST00000543760.1_Missense_Mutation_p.K492T|GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.3_ENST00000414640.1_RNA	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	530	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGCAACTCCAAGCTGAGGCAC	0.582																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(1588-1590)aAg>aCg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							68	62	64					1																	230415077		2203	4300	6503	SO:0001583	missense	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.chr1:230415077A>C	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.1589A>C	1.37:g.230415077A>C	ENSP00000355632:p.Lys530Thr		Somatic				GALNT2_ENST00000543760.1_Missense_Mutation_p.K492T|GALNT2_ENST00000485438.1_3'UTR	p.K530T	NM_004481.3	NP_004472.1	WXS	Illumina GAIIx	Phase_I	Q10471	GALT2_HUMAN			16	1661	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	530			Ricin B-type lectin.		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.1589A>C	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.133795	0.37630	.	.	ENSG00000143641	ENST00000543760;ENST00000366672	T;T	0.25749	1.78;1.78	5.45	4.32	0.51571	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.16171	0.0389	N	0.02985	-0.445	0.80722	D	1	P;P	0.41450	0.75;0.457	P;B	0.49047	0.599;0.319	T	0.16600	-1.0397	10	0.21014	T	0.42	.	11.287	0.49228	0.9282:0.0:0.0718:0.0	.	530;492	Q10471;G3V1S6	GALT2_HUMAN;.	T	492;530	ENSP00000445017:K492T;ENSP00000355632:K530T	ENSP00000355632:K530T	K	+	2	0	GALNT2	228481700	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.477000	0.81069	0.914000	0.36822	0.402000	0.26972	AAG		0.582	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		33	40	0	0	0	1	0	33	40					C	230415077	A	C	230415077	3	2	33	1	0	0	0	0	1	0	0	0	6221	72	3	4	1651	4	GALNT2	1	230415077	Missense_Mutation	SNP	A	TCGA-N9-A4PZ-01A-22D-A28R-08	27499497	230415077	18835544	8	3144										
TTC30B	150737	broad.mit.edu	37	chr2	178416032	178416032	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ggatgttatcataatgcttcTtgactatgggttcatagaaa	9	5	3	2			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr2:178416032T>C	ENST00000408939.3	-	1	1710	c.1460A>G	c.(1459-1461)aAg>aGg	p.K487R		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	487					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			ATAATGCTTCTTGACTATGGG	0.383																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1459-1461)aAg>aGg		tetratricopeptide repeat domain 30B							79	81	80					2																	178416032		2168	4251	6419	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416032T>C	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1460A>G	2.37:g.178416032T>C	ENSP00000386181:p.Lys487Arg		Somatic					p.K487R	NM_152517.2	NP_689730.2	WXS	Illumina GAIIx	Phase_I	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	1710	-			487					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.1460A>G	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	T	8.828	0.939271	0.18281	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.65364	-0.15	4.75	4.75	0.60458	Tetratricopeptide-like helical (1);	0.043364	0.85682	D	0.000000	T	0.61185	0.2327	M	0.75085	2.285	0.58432	D	0.999995	B	0.27823	0.19	B	0.26614	0.071	T	0.59606	-0.7423	10	0.22109	T	0.4	.	14.7035	0.69171	0.0:0.0:0.0:1.0	.	487	Q8N4P2	TT30B_HUMAN	R	440;487	ENSP00000386181:K487R	ENSP00000386181:K487R	K	-	2	0	TTC30B	178124278	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.077000	0.57598	2.125000	0.65367	0.533000	0.62120	AAG		0.383	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		23	84	0	0	0	1	0	23	84					C	178416032	T	C	178416032	3	2	33	1	0	0	0	0	1	0	0	0	16714	1609	56	4	541	4	TTC30B	2	178416032	Missense_Mutation	SNP	T	TCGA-N9-A4PZ-01A-22D-A28R-08		178416032	64783341	9	3145										
ILKAP	80895	broad.mit.edu	37	chr2	239103471	239103471	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	tcagtactgctggccggaggGaggtcatcaaagagcagggg	17	8	3	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr2:239103471G>A	ENST00000254654.3	-	2	271	c.96C>T	c.(94-96)ctC>ctT	p.L32L	ILKAP_ENST00000490837.1_5'UTR	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	32					protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TGGCCGGAGGGAGGTCATCAA	0.473																																						ENST00000254654.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(94-96)ctC>ctT		integrin-linked kinase-associated serine/threonine phosphatase							114	107	109					2																	239103471		2203	4300	6503	SO:0001819	synonymous_variant	80895					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding	g.chr2:239103471G>A	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.96C>T	2.37:g.239103471G>A			Somatic				ILKAP_ENST00000490837.1_5'UTR	p.L32L	NM_030768.2	NP_110395.1	WXS	Illumina GAIIx	Phase_I	Q9H0C8	ILKAP_HUMAN		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)	2	271	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	32					B3KM39	Silent	SNP	ENST00000254654.3	37	c.96C>T	CCDS2526.1																																																																																				0.473	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		13	39	0	0	0	1	0	13	39					A	239103471	G	A	239103471	2	1	33	1	0	0	0	0	0	0	0	1	7723	1161	41	3		3	ILKAP	2	239103471	Silent	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	60687439	239103471	4095902	10	3146										
PASK	23178	broad.mit.edu	37	chr2	242062240	242062240	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ctgtacttttgggagtactcGccctcacaggccgccaaccc	9	16	1	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr2:242062240G>A	ENST00000405260.1	-	12	3677	c.2979C>T	c.(2977-2979)ggC>ggT	p.G993G	PASK_ENST00000544142.1_Silent_p.G807G|PASK_ENST00000539818.1_Silent_p.G777G|PASK_ENST00000403638.3_Silent_p.G993G|PASK_ENST00000234040.4_Silent_p.G993G|PASK_ENST00000358649.4_Silent_p.G993G	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	993					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)		GGGAGTACTCGCCCTCACAGG	0.587																																						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.(2977-2979)ggC>ggT		PAS domain containing serine/threonine kinase							76	79	78					2																	242062240		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242062240G>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.2979C>T	2.37:g.242062240G>A			Somatic				PASK_ENST00000539818.1_Silent_p.G777G|PASK_ENST00000405260.1_Silent_p.G993G|PASK_ENST00000544142.1_Silent_p.G807G|PASK_ENST00000234040.4_Silent_p.G993G|PASK_ENST00000358649.4_Silent_p.G993G	p.G993G	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)	12	3070	-		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)	993					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.2979C>T	CCDS2545.1																																																																																				0.587	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		26	71	0	0	0	1	0	26	71					A	242062240	G	A	242062240	2	1	33	1	0	0	0	0	0	0	0	1	11481	1074	38	1		1	PASK	2	242062240	Silent	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	2958769	242062240	1137133	11	3147										
ROBO2	6092	broad.mit.edu	37	chr3	77595594	77595594	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	cccacagccagctgttttttGgcagaaagaaggcagccagg	12	11	0	2			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr3:77595594G>A	ENST00000461745.1	+	7	1940	c.1040G>A	c.(1039-1041)tGg>tAg	p.W347*	ROBO2_ENST00000332191.8_Nonsense_Mutation_p.W347*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.W363*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	347	Ig-like C2-type 4.				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)		GCTGTTTTTTGGCAGAAAGAA	0.478																																						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.(1039-1041)tGg>tAg		roundabout, axon guidance receptor, homolog 2 (Drosophila)							188	185	186					3																	77595594		1888	4131	6019	SO:0001587	stop_gained	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77595594G>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.1040G>A	3.37:g.77595594G>A	ENSP00000417164:p.Trp347*		Somatic				ROBO2_ENST00000332191.8_Nonsense_Mutation_p.W347*|ROBO2_ENST00000487694.3_Nonsense_Mutation_p.W363*	p.W347*	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)	7	1940	+			347			Ig-like C2-type 4.		O43608|Q19AB4|Q19AB5	Nonsense_Mutation	SNP	ENST00000461745.1	37	c.1040G>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	37	6.100213	0.97281	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	.	.	.	5.76	5.76	0.90799	.	0.000000	0.43579	D	0.000553	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9699	0.97282	0.0:0.0:1.0:0.0	.	.	.	.	X	363;363;367;347;347;68	.	ENSP00000327536:W347X	W	+	2	0	ROBO2	77678284	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	9.869000	0.99810	2.730000	0.93505	0.591000	0.81541	TGG		0.478	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		27	179	0	0	0	1	0	27	179					A	77595594	G	A	77595594	4	1	33	1	0	0	0	0	0	1	0	0	13529	1357	47	3	1068	3	ROBO2	3	77595594	Nonsense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08		77595594	120426836	12	3148										
CASR	846	broad.mit.edu	37	chr3	122003445	122003445	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	gcaccgcagctcacgctttcAaggtggctgcccgggccacg	13	16	2	0	rs193922437		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr3:122003445A>C	ENST00000490131.1	+	7	3016	c.2644A>C	c.(2644-2646)Aag>Cag	p.K882Q	CASR_ENST00000498619.1_Missense_Mutation_p.K892Q|CASR_ENST00000296154.5_Missense_Mutation_p.K882Q|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	882	Interaction with RNF19A.				anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCACGCTTTCAAGGTGGCTGC	0.622																																						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.(2674-2676)Aag>Cag		calcium-sensing receptor	Cinacalcet(DB01012)						36	36	36					3																	122003445		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.chr3:122003445A>C	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.2644A>C	3.37:g.122003445A>C	ENSP00000418685:p.Lys882Gln		Somatic				CASR_ENST00000296154.5_Missense_Mutation_p.K882Q|CASR_ENST00000490131.1_Missense_Mutation_p.K882Q	p.K892Q	NM_001178065.1	NP_001171536.1	WXS	Illumina GAIIx	Phase_I	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3112	+			882			Interaction with RNF19A.		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2674A>C	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.586560	0.66105	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89552	-2.52;-2.53;-2.52	5.89	5.89	0.94794	.	0.048036	0.85682	D	0.000000	D	0.85596	0.5733	L	0.34521	1.04	0.58432	D	0.999993	P;P	0.49090	0.919;0.919	P;P	0.45343	0.477;0.477	D	0.84674	0.0713	10	0.30854	T	0.27	.	15.4934	0.75629	1.0:0.0:0.0:0.0	.	892;882	E7ENE0;P41180	.;CASR_HUMAN	Q	882;892;882	ENSP00000418685:K882Q;ENSP00000420194:K892Q;ENSP00000296154:K882Q	ENSP00000296154:K882Q	K	+	1	0	CASR	123486135	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.157000	0.94714	2.254000	0.74563	0.459000	0.35465	AAG		0.622	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		28	37	0	0	0	1	0	28	37					C	122003445	A	C	122003445	3	2	33	1	0	0	0	0	1	0	0	0	2684	131	5	4	2696	4	CASR	3	122003445	Missense_Mutation	SNP	A	TCGA-N9-A4PZ-01A-22D-A28R-08	44407851	122003445	76018985	13	3149										
PIK3CA	5290	broad.mit.edu	37	chr3	178916957	178916957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	tgaagaaaagatcctcaatcGagaaattggtatgatacaat	8	5	1	5	rs200018596		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr3:178916957G>T	ENST00000263967.3	+	2	501	c.344G>T	c.(343-345)cGa>cTa	p.R115L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	115					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.R115L(3)		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)	ATCCTCAATCGAGAAATTGGT	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"		3	Substitution - Missense(3)	p.R115L(3)	endometrium(2)|upper_aerodigestive_tract(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.(343-345)cGa>cTa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							71	67	69					3																	178916957		1815	4070	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.chr3:178916957G>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.344G>T	3.37:g.178916957G>T	ENSP00000263967:p.Arg115Leu	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.R115L	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)		2	501	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		115					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.344G>T	CCDS43171.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.05	3.536439	0.65085	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.72282	0.9;-0.64	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	L	0.34521	1.04	0.80722	D	1	P	0.42785	0.79	B	0.34180	0.177	T	0.60021	-0.7344	9	.	.	.	-14.1086	19.4271	0.94746	0.0:0.0:1.0:0.0	.	115	P42336	PK3CA_HUMAN	L	115	ENSP00000263967:R115L;ENSP00000417479:R115L	.	R	+	2	0	PIK3CA	180399651	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.289000	0.96061	2.584000	0.87258	0.555000	0.69702	CGA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			26	36	1	0	1.1804e-14	1	1.36876e-14	26	36					T	178916957	G	T	178916957	3	4	33	1	0	0	0	0	1	0	0	0	11922	1058	37	2	346	2	PIK3CA	3	178916957	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	56913512	178916957	19105473	14	3150										
PCYT1A	5130	broad.mit.edu	37	chr3	195974349	195974349	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	cgctcattctcgttcatcacCgtgaagcctttgaagttgtg	9	11	4	2			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr3:195974349C>T	ENST00000292823.2	-	6	547	c.375G>A	c.(373-375)acG>acA	p.T125T	PCYT1A_ENST00000431016.1_Silent_p.T125T|PCYT1A_ENST00000419333.1_Silent_p.T125T|PCYT1A_ENST00000491544.1_5'UTR	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	125					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	CGTTCATCACCGTGAAGCCTT	0.537																																						ENST00000292823.2																			0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(373-375)acG>acA		phosphate cytidylyltransferase 1, choline, alpha	Choline(DB00122)						201	160	174					3																	195974349		2203	4300	6503	SO:0001819	synonymous_variant	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195974349C>T	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"phosphate cytidylyltransferase 1, choline, alpha isoform"	123695	"phosphate cytidylyltransferase 1, choline, alpha isoform"	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.375G>A	3.37:g.195974349C>T			Somatic				PCYT1A_ENST00000419333.1_Silent_p.T125T|PCYT1A_ENST00000431016.1_Silent_p.T125T|PCYT1A_ENST00000491544.1_5'UTR	p.T125T	NM_005017.2	NP_005008.2	WXS	Illumina GAIIx	Phase_I	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	6	547	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		125			Catalytic (Potential).		A9LYK9|D3DXB1|Q86Y88	Silent	SNP	ENST00000292823.2	37	c.375G>A	CCDS3315.1																																																																																				0.537	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		30	106	0	0	0	1	0	30	106					T	195974349	C	T	195974349	2	4	33	1	0	0	0	0	0	0	0	1	11619	639	23	1		1	PCYT1A	3	195974349	Silent	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08	17057392	195974349	2048081	15	3151										
CCDC158	339965	broad.mit.edu	37	chr4	77290771	77290771	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	tccttctcccttttgtgtagAtcagcctaaaaaaagagagg	8	9	2	2			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr4:77290771A>G	ENST00000388914.3	-	10	1307	c.1155T>C	c.(1153-1155)gaT>gaC	p.D385D		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	385										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						TTTTGTGTAGATCAGCCTAAA	0.408																																						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.(1153-1155)gaT>gaC		coiled-coil domain containing 158							73	72	72					4																	77290771		1924	4132	6056	SO:0001819	synonymous_variant	339965							g.chr4:77290771A>G	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.1155T>C	4.37:g.77290771A>G			Somatic					p.D385D	NM_001042784.1	NP_001036249.1	WXS	Illumina GAIIx	Phase_I	Q5M9N0	CD158_HUMAN			10	1307	-			385					Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	c.1155T>C	CCDS43242.1																																																																																				0.408	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		4	60	0	0	0	1	0	4	60					G	77290771	A	G	77290771	2	3	33	1	0	0	0	0	0	0	0	1	2792	330	12	4		4	CCDC158	4	77290771	Silent	SNP	A	TCGA-N9-A4PZ-01A-22D-A28R-08		77290771	113863505	16	3152										
PRDM8	56978	broad.mit.edu	37	chr4	81123237	81123237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	gaccacgggggcggcggcggCggtggcaaagaccagcagca	19	12	0	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr4:81123237C>T	ENST00000504452.1	+	8	1460	c.621C>T	c.(619-621)ggC>ggT	p.G207G	PRDM8_ENST00000339711.4_Silent_p.G207G|PRDM8_ENST00000415738.2_Silent_p.G207G			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	207	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcggcggcggcggtggcaaag	0.657											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(619-621)ggC>ggT		PR domain containing 8							24	31	29					4																	81123237		2009	4173	6182	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123237C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.621C>T	4.37:g.81123237C>T			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.G207G|PRDM8_ENST00000415738.2_Silent_p.G207G	p.G207G	NM_020226.3	NP_064611.3	WXS	Illumina GAIIx	Phase_I	Q9NQV8	PRDM8_HUMAN			10	1852	+			207			Gly-rich.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.621C>T	CCDS43243.1																																																																																				0.657	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			5	88	0	0	0	1	0	5	88					T	81123237	C	T	81123237	2	4	33	1	0	0	0	0	0	0	0	1	12474	755	27	1		1	PRDM8	4	81123237	Silent	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08	3832466	81123237	110031039	17	3153										
C5orf38	153571	broad.mit.edu	37	chr5	2752842	2752842	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	acgggcaggagctcaggttgGcgccgccggtgcagtgggca	19	11	1	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr5:2752842G>T	ENST00000334000.3	+	2	424	c.307G>T	c.(307-309)Gcg>Tcg	p.A103S	IRX2_ENST00000302057.5_5'Flank|IRX2_ENST00000382611.6_5'Flank|C5orf38_ENST00000457752.2_Intron|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000515640.1_Missense_Mutation_p.A103S|C5orf38_ENST00000397835.4_Missense_Mutation_p.A103S|C5orf38_ENST00000505778.1_Missense_Mutation_p.A103S	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	103						extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GCTCAGGTTGGCGCCGCCGGT	0.637																																						ENST00000515640.1																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(307-309)Gcg>Tcg		chromosome 5 open reading frame 38							52	57	56					5																	2752842		2203	4300	6503	SO:0001583	missense	153571					extracellular region		g.chr5:2752842G>T	AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"coordinated expression to IRX2", "IRX2 neighbor"	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.307G>T	5.37:g.2752842G>T	ENSP00000334267:p.Ala103Ser		Somatic				C5orf38_ENST00000505778.1_Missense_Mutation_p.A103S|C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000334000.3_Missense_Mutation_p.A103S|C5orf38_ENST00000397835.4_Missense_Mutation_p.A103S|IRX2_ENST00000502957.1_5'UTR	p.A103S			WXS	Illumina GAIIx	Phase_I	Q86SI9	CEI_HUMAN		GBM - Glioblastoma multiforme(108;0.205)	2	326	+			103						Missense_Mutation	SNP	ENST00000334000.3	37	c.307G>T	CCDS34131.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645885	0.29246	.	.	ENSG00000186493	ENST00000397835;ENST00000334000;ENST00000505778;ENST00000515640	.	.	.	1.98	1.06	0.20224	.	.	.	.	.	T	0.12817	0.0311	N	0.08118	0	0.09310	N	1	P	0.44344	0.833	B	0.35182	0.197	T	0.11991	-1.0565	8	0.87932	D	0	.	6.2371	0.20768	0.0:0.3185:0.6815:0.0	.	103	Q86SI9	CEI_HUMAN	S	103	.	ENSP00000334267:A103S	A	+	1	0	C5orf38	2805842	0.077000	0.21312	0.002000	0.10522	0.029000	0.11900	1.824000	0.39072	0.372000	0.24591	0.313000	0.20887	GCG		0.637	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	NM_178569		58	63	1	0	1.64591e-14	1	1.88847e-14	58	63					T	2752842	G	T	2752842	3	4	33	1	0	0	0	0	1	0	0	0	2298	1203	42	5	313	5	C5orf38	5	2752842	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08		2752842	178162418	18	3154										
PRLR	5618	broad.mit.edu	37	chr5	35084594	35084594	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	atgtaagtcacgtccacataAagttcatccgagaaactgct	7	10	2	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr5:35084594A>C	ENST00000382002.5	-	5	777	c.351T>G	c.(349-351)ctT>ctG	p.L117L	PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000231423.3_Silent_p.L117L|PRLR_ENST00000348262.3_Silent_p.L117L|PRLR_ENST00000397391.3_Silent_p.L46L|PRLR_ENST00000310101.5_Silent_p.L117L|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000513753.1_Silent_p.L117L|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000542609.1_Silent_p.L117L	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	117	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)	CGTCCACATAAAGTTCATCCG	0.453																																						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.(349-351)ctT>ctG		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						227	212	217					5																	35084594		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:35084594A>C		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.351T>G	5.37:g.35084594A>C			Somatic				PRLR_ENST00000231423.3_Silent_p.L117L|PRLR_ENST00000348262.3_Silent_p.L117L|PRLR_ENST00000310101.5_Silent_p.L117L|PRLR_ENST00000397391.3_Silent_p.L46L|PRLR_ENST00000513753.1_Silent_p.L117L|PRLR_ENST00000542609.1_Silent_p.L117L|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000509934.1_5'UTR	p.L117L	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	777	-	all_lung(31;3.83e-05)		117			Fibronectin type-III 1.		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Silent	SNP	ENST00000382002.5	37	c.351T>G	CCDS3909.1																																																																																				0.453	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			4	190	0	0	0	1	0	4	190					C	35084594	A	C	35084594	2	2	33	1	0	0	0	0	0	0	0	1	12543	1	1	4		4	PRLR	5	35084594	Silent	SNP	A	TCGA-N9-A4PZ-01A-22D-A28R-08	32331752	35084594	145830666	19	3155										
ZFYVE16	9765	broad.mit.edu	37	chr5	79734554	79734554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	aacccagcacagcagataccGttgttccaatcacttgtgct	7	13	1	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr5:79734554G>A	ENST00000338008.5	+	3	2230	c.2050G>A	c.(2050-2052)Gtt>Att	p.V684I	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.V684I|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.V684I	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	684					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)		AGCAGATACCGTTGTTCCAAT	0.398																																					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.(2050-2052)Gtt>Att		zinc finger, FYVE domain containing 16							102	96	98					5																	79734554		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.chr5:79734554G>A	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"Zinc fingers, FYVE domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20756	protein-coding gene	gene with protein product	"endofin", "protein phosphatase 1, regulatory subunit 69"	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2050G>A	5.37:g.79734554G>A	ENSP00000337159:p.Val684Ile		Somatic				ZFYVE16_ENST00000505560.1_Missense_Mutation_p.V684I|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.V684I	p.V684I	NM_014733.3	NP_055548.3	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	2230	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	684					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.2050G>A	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.391585	0.01185	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.37915	1.17;1.17;1.17	5.82	-5.41	0.02648	.	1.404810	0.04333	N	0.352745	T	0.17323	0.0416	N	0.03608	-0.345	0.09310	N	1	B;B	0.15473	0.013;0.001	B;B	0.06405	0.002;0.001	T	0.33007	-0.9885	10	0.11794	T	0.64	0.4197	16.6318	0.85035	0.3898:0.0:0.6102:0.0	.	684;684	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	I	684	ENSP00000337159:V684I;ENSP00000423663:V684I;ENSP00000426848:V684I	ENSP00000337159:V684I	V	+	1	0	ZFYVE16	79770310	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.856000	0.04290	-0.845000	0.04179	-0.806000	0.03193	GTT		0.398	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		11	77	0	0	0	1	0	11	77					A	79734554	G	A	79734554	3	1	33	1	0	0	0	0	1	0	0	0	17679	1145	40	1	2056	1	ZFYVE16	5	79734554	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	44649960	79734554	101180706	20	3156										
ARSK	153642	broad.mit.edu	37	chr5	94891003	94891003	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	atgctactgctgtgggtgtcGgtggtcgcagccttggcgct	16	10	0	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr5:94891003G>C	ENST00000380009.4	+	1	226	c.21G>C	c.(19-21)tcG>tcC	p.S7S	TTC37_ENST00000358746.2_5'Flank|ARSK_ENST00000504763.1_Silent_p.S7S	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	7					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TGTGGGTGTCGGTGGTCGCAG	0.692																																						ENST00000380009.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16						c.(19-21)tcG>tcC		arylsulfatase family, member K							19	23	22					5																	94891003		2201	4294	6495	SO:0001819	synonymous_variant	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94891003G>C		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.21G>C	5.37:g.94891003G>C			Somatic				ARSK_ENST00000504763.1_Silent_p.S7S	p.S7S	NM_198150.2	NP_937793.1	WXS	Illumina GAIIx	Phase_I	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	1	226	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	7					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Silent	SNP	ENST00000380009.4	37	c.21G>C	CCDS4073.1																																																																																				0.692	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		3	11	0	0	0	1	0	3	11					C	94891003	G	C	94891003	2	2	33	1	0	0	0	0	0	0	0	1	996	1103	39	5		5	ARSK	5	94891003	Silent	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	15156449	94891003	86024257	21	3157										
PCDHGA7	56108	broad.mit.edu	37	chr5	140764737	140764737	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	cagacctattcccatgaggtCtccctcaccgcggactctcg	8	17	3	2			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr5:140764737C>G	ENST00000518325.1	+	1	2271	c.2271C>G	c.(2269-2271)gtC>gtG	p.V757V	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	757					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCATGAGGTCTCCCTCACCG	0.562																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(2269-2271)gtC>gtG									91	98	96					5																	140764737		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140764737C>G	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"Cadherins / Protocadherins : Clustered"	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2271C>G	5.37:g.140764737C>G			Somatic				PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.V757V	NM_018920.2	NP_061743.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2271	+								B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.2271C>G	CCDS54927.1																																																																																				0.562	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		90	33	0	0	0	1	0	90	33					G	140764737	C	G	140764737	2	3	33	1	0	0	0	0	0	0	0	1	11568	900	32	2		2	PCDHGA7	5	140764737	Silent	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08	45873734	140764737	40150523	22	3158										
FIG4	9896	broad.mit.edu	37	chr6	110081456	110081456	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	tttaatttttgataaaggaaCgagagaaaagaaagcatgaa	9	2	0	4	rs377357931		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr6:110081456C>G	ENST00000230124.3	+	11	1265	c.1141C>G	c.(1141-1143)Cga>Gga	p.R381G	FIG4_ENST00000441478.2_Missense_Mutation_p.R104G	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	381	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GATAAAGGAACGAGAGAAAAG	0.333																																						ENST00000230124.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32						c.(1141-1143)Cga>Gga		FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)							98	85	89					6																	110081456		2203	4300	6503	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110081456C>G	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1141C>G	6.37:g.110081456C>G	ENSP00000230124:p.Arg381Gly		Somatic				FIG4_ENST00000441478.2_Missense_Mutation_p.R104G	p.R381G	NM_014845.5	NP_055660.1	WXS	Illumina GAIIx	Phase_I	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	11	1265	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	381			SAC.		Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.1141C>G	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564115	0.45694	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	T;T	0.54675	1.72;0.56	5.61	1.52	0.23074	Synaptojanin, N-terminal (2);	0.204013	0.42682	D	0.000680	T	0.61073	0.2318	M	0.72624	2.21	0.52501	D	0.99995	D;D	0.89917	0.979;1.0	P;D	0.76575	0.711;0.988	T	0.67209	-0.5728	10	0.62326	D	0.03	-13.163	15.4033	0.74858	0.4862:0.5138:0.0:0.0	.	104;381	F5H8L9;Q92562	.;FIG4_HUMAN	G	104;381	ENSP00000399443:R104G;ENSP00000230124:R381G	ENSP00000230124:R381G	R	+	1	2	FIG4	110188149	1.000000	0.71417	0.993000	0.49108	0.338000	0.28826	3.119000	0.50422	-0.023000	0.13963	-0.457000	0.05445	CGA		0.333	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		11	44	0	0	0	1	0	11	44					G	110081456	C	G	110081456	3	3	33	1	0	0	0	0	1	0	0	0	5896	528	19	5	1183	5	FIG4	6	110081456	Missense_Mutation	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08		110081456	61033611	23	3159										
REV3L	5980	broad.mit.edu	37	chr6	111694285	111694285	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	gaacacagaaagaatccattAttgagttagaccgagttgtt	9	6	0	4			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr6:111694285A>G	ENST00000358835.3	-	14	5727	c.5273T>C	c.(5272-5274)aTa>aCa	p.I1758T	REV3L_ENST00000368805.1_Missense_Mutation_p.I1758T|REV3L_ENST00000435970.1_Missense_Mutation_p.I1680T|REV3L_ENST00000368802.3_Missense_Mutation_p.I1758T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1758					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGAATCCATTATTGAGTTAGA	0.393								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5038-5040)aTa>aCa	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							217	206	210					6																	111694285		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111694285A>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5273T>C	6.37:g.111694285A>G	ENSP00000351697:p.Ile1758Thr		Somatic				REV3L_ENST00000368802.3_Missense_Mutation_p.I1758T|REV3L_ENST00000358835.3_Missense_Mutation_p.I1758T|REV3L_ENST00000368805.1_Missense_Mutation_p.I1758T	p.I1680T			WXS	Illumina GAIIx	Phase_I	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	5855	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1758					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5039T>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	A	10.41	1.341395	0.24339	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01705	4.78;4.78;4.78;4.68	5.93	5.93	0.95920	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000002	T	0.01421	0.0046	L	0.56769	1.78	0.30626	N	0.757941	P	0.48764	0.915	P	0.47827	0.558	T	0.54255	-0.8321	10	0.20519	T	0.43	-7.1652	9.9564	0.41668	0.925:0.0:0.0749:0.0	.	1758	O60673	DPOLZ_HUMAN	T	1758;1758;1758;1680	ENSP00000357792:I1758T;ENSP00000357795:I1758T;ENSP00000351697:I1758T;ENSP00000402003:I1680T	ENSP00000351697:I1758T	I	-	2	0	REV3L	111800978	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.518000	0.45537	2.263000	0.75096	0.533000	0.62120	ATA		0.393	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		5	195	0	0	0	1	0	5	195					G	111694285	A	G	111694285	3	3	33	1	0	0	0	0	1	0	0	0	13255	449	16	4	4199	4	REV3L	6	111694285	Missense_Mutation	SNP	A	TCGA-N9-A4PZ-01A-22D-A28R-08	1612829	111694285	59420782	24	3160										
TULP4	56995	broad.mit.edu	37	chr6	158923248	158923248	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	cccaccacagcagcacccccGccccctctgccgcccccaca	5	27	1	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr6:158923248G>C	ENST00000367097.3	+	13	3910	c.2553G>C	c.(2551-2553)ccG>ccC	p.P851P	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	851					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)		CAGCACCCCCGCCCCCTCTGC	0.657																																						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.(2551-2553)ccG>ccC		tubby like protein 4							5	6	6					6																	158923248		2080	4109	6189	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923248G>C		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.2553G>C	6.37:g.158923248G>C			Somatic				TULP4_ENST00000367094.2_Intron	p.P851P	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)	13	3910	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	851					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.2553G>C	CCDS34561.1																																																																																				0.657	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		5	17	0	0	0	1	0	5	17					C	158923248	G	C	158923248	2	2	33	1	0	0	0	0	0	0	0	1	16791	1074	38	5		5	TULP4	6	158923248	Silent	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	47228963	158923248	12191819	25	3161										
C7orf50	84310	broad.mit.edu	37	chr7	1167007	1167007	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	gtcacttcaggaacttttctCttctgttttgccatcctgca	6	12	4	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:1167007C>A	ENST00000397098.3	-	2	941	c.15G>T	c.(13-15)aaG>aaT	p.K5N	C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Missense_Mutation_p.K5N|C7orf50_ENST00000397100.2_Missense_Mutation_p.K5N			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	5							poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		GAACTTTTCTCTTCTGTTTTG	0.443																																						ENST00000397098.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(13-15)aaG>aaT		chromosome 7 open reading frame 50							61	53	56					7																	1167007		2203	4300	6503	SO:0001583	missense	84310						protein binding	g.chr7:1167007C>A	BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.15G>T	7.37:g.1167007C>A	ENSP00000380286:p.Lys5Asn		Somatic				C7orf50_ENST00000397100.2_Missense_Mutation_p.K5N|C7orf50_ENST00000357429.6_Missense_Mutation_p.K5N|C7orf50_ENST00000488073.1_5'UTR	p.K5N			WXS	Illumina GAIIx	Phase_I	Q9BRJ6	CG050_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)	2	941	-		Ovarian(82;0.0779)	5						Missense_Mutation	SNP	ENST00000397098.3	37	c.15G>T	CCDS5320.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165725	0.38217	.	.	ENSG00000146540	ENST00000397100;ENST00000397098;ENST00000357429;ENST00000491163	.	.	.	3.68	1.82	0.25136	.	0.069851	0.53938	D	0.000047	T	0.15089	0.0364	L	0.27053	0.805	0.27268	N	0.958433	P	0.43094	0.799	B	0.33750	0.169	T	0.13926	-1.0491	9	0.56958	D	0.05	-16.775	5.0652	0.14578	0.0:0.668:0.2143:0.1177	.	5	Q9BRJ6	CG050_HUMAN	N	5	.	ENSP00000350011:K5N	K	-	3	2	C7orf50	1133533	1.000000	0.71417	0.998000	0.56505	0.807000	0.45602	0.777000	0.26718	0.522000	0.28464	0.655000	0.94253	AAG		0.443	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322817.3	NM_032350		4	3	1	0	0.150653	1	0.152048	4	3					A	1167007	C	A	1167007	3	1	33	1	0	0	0	0	1	0	0	0	2401	912	32	2	585	2	C7orf50	7	1167007	Missense_Mutation	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08		1167007	157971656	26	3162										
NPY	4852	broad.mit.edu	37	chr7	24324969	24324969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ctccaagccggacaacccggGcgaggacgcaccagcggagg	15	15	0	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:24324969G>A	ENST00000407573.1	+	3	400	c.110G>A	c.(109-111)gGc>gAc	p.G37D	NPY_ENST00000242152.2_Missense_Mutation_p.G37D|NPY_ENST00000405982.1_Missense_Mutation_p.G37D			P01303	NPY_HUMAN	neuropeptide Y	37					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GACAACCCGGGCGAGGACGCA	0.672																																						ENST00000407573.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						c.(109-111)gGc>gAc		neuropeptide Y							78	61	67					7																	24324969		2203	4300	6503	SO:0001583	missense	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24324969G>A	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"Endogenous ligands"	7955	protein-coding gene	gene with protein product	"prepro-neuropeptide Y"	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.110G>A	7.37:g.24324969G>A	ENSP00000384364:p.Gly37Asp		Somatic				NPY_ENST00000405982.1_Missense_Mutation_p.G37D|NPY_ENST00000242152.2_Missense_Mutation_p.G37D	p.G37D			WXS	Illumina GAIIx	Phase_I	P01303	NPY_HUMAN			3	400	+			37						Missense_Mutation	SNP	ENST00000407573.1	37	c.110G>A	CCDS5387.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264546	0.95399	.	.	ENSG00000122585	ENST00000242152;ENST00000407573;ENST00000405982	T;T;T	0.58797	0.31;0.31;0.31	5.86	5.86	0.93980	.	0.045543	0.85682	D	0.000000	T	0.79137	0.4395	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.80500	-0.1355	9	0.87932	D	0	-21.214	20.1986	0.98248	0.0:0.0:1.0:0.0	.	37	P01303	NPY_HUMAN	D	37	ENSP00000242152:G37D;ENSP00000384364:G37D;ENSP00000385282:G37D	ENSP00000242152:G37D	G	+	2	0	NPY	24291494	1.000000	0.71417	0.651000	0.29564	0.820000	0.46376	7.838000	0.86804	2.781000	0.95711	0.650000	0.86243	GGC		0.672	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		16	28	0	0	0	1	0	16	28					A	24324969	G	A	24324969	3	1	33	1	0	0	0	0	1	0	0	0	10616	1203	42	3	112	3	NPY	7	24324969	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	23157962	24324969	134813694	27	3163										
URGCP	55665	broad.mit.edu	37	chr7	43918018	43918018	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	gagatttctgtcaagagcttAaactgcagccagtgagaccc	10	10	2	3			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:43918018A>C	ENST00000453200.1	-	6	1537	c.1044T>G	c.(1042-1044)ttT>ttG	p.F348L	URGCP_ENST00000336086.6_Missense_Mutation_p.F305L|URGCP_ENST00000223341.7_Missense_Mutation_p.F305L|URGCP_ENST00000402306.3_Missense_Mutation_p.F339L|URGCP_ENST00000443736.1_Missense_Mutation_p.F305L|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Missense_Mutation_p.F305L			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	348					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCAAGAGCTTAAACTGCAGCC	0.463																																						ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(913-915)ttT>ttG		upregulator of cell proliferation							78	77	77					7																	43918018		1921	4145	6066	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43918018A>C		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.1044T>G	7.37:g.43918018A>C	ENSP00000396918:p.Phe348Leu		Somatic				URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.F305L|URGCP_ENST00000402306.3_Missense_Mutation_p.F339L|URGCP_ENST00000447717.3_Missense_Mutation_p.F305L|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Missense_Mutation_p.F348L|URGCP_ENST00000223341.7_Missense_Mutation_p.F305L	p.F305L			WXS	Illumina GAIIx	Phase_I	Q8TCY9	URGCP_HUMAN			4	3151	-			348					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.915T>G	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991860	0.54041	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.08458	3.1;3.1;3.1;3.1;3.09;3.1	5.48	-4.22	0.03800	.	0.111036	0.64402	D	0.000011	T	0.08133	0.0203	L	0.46670	1.46	0.24985	N	0.991572	P;P	0.42518	0.782;0.782	B;B	0.40375	0.327;0.327	T	0.07158	-1.0787	10	0.38643	T	0.18	-21.1107	15.4264	0.75055	0.2878:0.0:0.7122:0.0	.	339;348	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	L	305;305;339;305;348;305	ENSP00000223341:F305L;ENSP00000336872:F305L;ENSP00000384955:F339L;ENSP00000392136:F305L;ENSP00000396918:F348L;ENSP00000402803:F305L	ENSP00000223341:F305L	F	-	3	2	URGCP	43884543	0.023000	0.18921	0.959000	0.39883	0.988000	0.76386	-0.725000	0.04942	-0.817000	0.04335	-0.326000	0.08463	TTT		0.463	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		48	65	0	0	0	1	0	48	65					C	43918018	A	C	43918018	3	2	33	1	0	0	0	0	1	0	0	0	17041	359	13	4	1755	4	URGCP	7	43918018	Missense_Mutation	SNP	A	TCGA-N9-A4PZ-01A-22D-A28R-08	19593049	43918018	115220645	28	3164										
PPP1R3A	5506	broad.mit.edu	37	chr7	113518383	113518383	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	attagttgacactgaaatttCagtatgatgtttggaaaaag	9	3	1	3			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:113518383C>T	ENST00000284601.3	-	4	2832	c.2764G>A	c.(2764-2766)Gaa>Aaa	p.E922K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	922					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						ACTGAAATTTCAGTATGATGT	0.378																																						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.(2764-2766)Gaa>Aaa		protein phosphatase 1, regulatory subunit 3A							100	101	101					7																	113518383		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518383C>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.2764G>A	7.37:g.113518383C>T	ENSP00000284601:p.Glu922Lys		Somatic					p.E922K	NM_002711.3	NP_002702.2	WXS	Illumina GAIIx	Phase_I	Q16821	PPR3A_HUMAN			4	2832	-			922					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2764G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.121011	0.00031	.	.	ENSG00000154415	ENST00000284601	T	0.12569	2.67	5.52	1.87	0.25490	.	0.729502	0.13058	N	0.417090	T	0.03564	0.0102	N	0.01742	-0.745	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43829	-0.9367	10	0.02654	T	1	-4.7676	4.83	0.13435	0.0:0.2363:0.1493:0.6144	.	922	Q16821	PPR3A_HUMAN	K	922	ENSP00000284601:E922K	ENSP00000284601:E922K	E	-	1	0	PPP1R3A	113305619	0.605000	0.26941	0.002000	0.10522	0.001000	0.01503	0.642000	0.24735	0.072000	0.16694	-0.312000	0.09012	GAA		0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		41	71	0	0	0	1	0	41	71					T	113518383	C	T	113518383	3	4	33	1	0	0	0	0	1	0	0	0	12383	835	29	3	608	3	PPP1R3A	7	113518383	Missense_Mutation	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08	69600365	113518383	45620280	29	3165										
PTPRZ1	5803	broad.mit.edu	37	chr7	121652768	121652768	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	aattagttctacaatgttgcAtctcattgtatcaaattctg	5	7	4	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:121652768A>G	ENST00000393386.2	+	12	4079	c.3668A>G	c.(3667-3669)cAt>cGt	p.H1223R	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1223					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACAATGTTGCATCTCATTGTA	0.398																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(3667-3669)cAt>cGt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							165	164	164					7																	121652768		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652768A>G	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.3668A>G	7.37:g.121652768A>G	ENSP00000377047:p.His1223Arg		Somatic				PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	p.H1223R	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	WXS	Illumina GAIIx	Phase_I	P23471	PTPRZ_HUMAN			12	4079	+			1223					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.3668A>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	8.991	0.977670	0.18812	.	.	ENSG00000106278	ENST00000393386	T	0.44083	0.93	5.51	4.33	0.51752	.	0.340415	0.25503	N	0.030232	T	0.40719	0.1128	M	0.62723	1.935	0.80722	D	1	P	0.46395	0.877	B	0.41860	0.368	T	0.30090	-0.9990	10	0.54805	T	0.06	.	9.4398	0.38661	0.7174:0.0:0.0:0.2826	.	1223	P23471	PTPRZ_HUMAN	R	1223	ENSP00000377047:H1223R	ENSP00000377047:H1223R	H	+	2	0	PTPRZ1	121440004	1.000000	0.71417	0.953000	0.39169	0.434000	0.31775	1.926000	0.40084	0.877000	0.35895	0.454000	0.30748	CAT		0.398	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		5	140	0	0	0	1	0	5	140					G	121652768	A	G	121652768	3	3	33	1	0	0	0	0	1	0	0	0	12829	217	8	4	3714	4	PTPRZ1	7	121652768	Missense_Mutation	SNP	A	TCGA-N9-A4PZ-01A-22D-A28R-08	8134385	121652768	37485895	30	3166										
MGAM	8972	broad.mit.edu	37	chr7	141736743	141736743	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	tcttcttccgtgctcacagcCgaggggacacggtggccagg	14	13	3	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:141736743C>T	ENST00000549489.2	+	18	2292	c.2197C>T	c.(2197-2199)Cga>Tga	p.R733*	MGAM_ENST00000475668.2_Nonsense_Mutation_p.R733*	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	733	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCTCACAGCCGAGGGGACAC	0.468																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(2197-2199)Cga>Tga		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						197	200	199					7																	141736743		2013	4175	6188	SO:0001587	stop_gained	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.chr7:141736743C>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.2197C>T	7.37:g.141736743C>T	ENSP00000447378:p.Arg733*		Somatic				MGAM_ENST00000549489.2_Nonsense_Mutation_p.R733*	p.R733*			WXS	Illumina GAIIx	Phase_I	O43451	MGA_HUMAN			18	2251	+	Melanoma(164;0.0272)		733			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000549489.2	37	c.2197C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	41	8.545062	0.98857	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	.	.	.	5.81	3.85	0.44370	.	0.278577	0.25520	N	0.030113	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	9.4382	0.38653	0.2853:0.5762:0.1385:0.0	.	.	.	.	X	733;733;610	.	ENSP00000316431:R610X	R	+	1	2	MGAM	141383212	0.002000	0.14202	0.998000	0.56505	0.977000	0.68977	0.876000	0.28092	1.409000	0.46915	0.650000	0.86243	CGA		0.468	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			53	193	0	0	0	1	0	53	193					T	141736743	C	T	141736743	4	4	33	1	0	0	0	0	0	1	0	0	9550	644	23	1	2263	1	MGAM	7	141736743	Nonsense_Mutation	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08	20083975	141736743	17401920	31	3167										
ZNF282	8427	broad.mit.edu	37	chr7	148895722	148895722	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	agagcaagtgggccgtgctgGggaccctgctgcaggagtac	17	10	0	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:148895722G>T	ENST00000262085.3	+	2	568	c.463G>T	c.(463-465)Ggg>Tgg	p.G155W	ZNF282_ENST00000479907.1_Missense_Mutation_p.G155W	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	155					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)		GGCCGTGCTGGGGACCCTGCT	0.647																																						ENST00000262085.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(463-465)Ggg>Tgg		zinc finger protein 282							56	63	61					7																	148895722		2203	4300	6503	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148895722G>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.463G>T	7.37:g.148895722G>T	ENSP00000262085:p.Gly155Trp		Somatic				ZNF282_ENST00000479907.1_Missense_Mutation_p.G155W	p.G155W	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)	2	568	+	Melanoma(164;0.15)		155					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.463G>T	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884489	0.51908	.	.	ENSG00000170265	ENST00000430197;ENST00000262085;ENST00000479907	T;T	0.26223	1.75;1.75	4.26	4.26	0.50523	.	0.000000	0.43416	D	0.000568	T	0.46639	0.1403	M	0.62723	1.935	0.41513	D	0.988353	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	T	0.49331	-0.8951	10	0.87932	D	0	-32.9566	12.5196	0.56052	0.0:0.0:1.0:0.0	.	155;106;127;155	B4DRI5;Q86YG2;Q7Z2V4;Q9UDV7	.;.;.;ZN282_HUMAN	W	70;155;155	ENSP00000262085:G155W;ENSP00000418840:G155W	ENSP00000262085:G155W	G	+	1	0	ZNF282	148526655	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	5.688000	0.68227	2.096000	0.63516	0.313000	0.20887	GGG		0.647	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		5	185	1	0	0.014758	1	0.0154675	5	185					T	148895722	G	T	148895722	3	4	33	1	0	0	0	0	1	0	0	0	17834	1232	43	5	469	5	ZNF282	7	148895722	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	7158979	148895722	10242941	32	3168										
DOCK5	80005	broad.mit.edu	37	chr8	25258522	25258522	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	aagccgctgcatgagcggttGtcttcttgcttccgggaact	12	11	2	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr8:25258522G>T	ENST00000276440.7	+	47	4910	c.4866G>T	c.(4864-4866)ttG>ttT	p.L1622F		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1622	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ATGAGCGGTTGTCTTCTTGCT	0.483																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4864-4866)ttG>ttT		dedicator of cytokinesis 5							164	170	168					8																	25258522		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25258522G>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4866G>T	8.37:g.25258522G>T	ENSP00000276440:p.Leu1622Phe		Somatic					p.L1622F	NM_024940.6	NP_079216.4	WXS	Illumina GAIIx	Phase_I	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	47	4910	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1622			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.4866G>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867638	0.51588	.	.	ENSG00000147459	ENST00000276440	T	0.28454	1.61	5.88	5.0	0.66597	.	0.080263	0.50627	D	0.000102	T	0.38585	0.1046	M	0.76328	2.33	0.54753	D	0.999989	B	0.23540	0.087	B	0.33690	0.168	T	0.26052	-1.0114	10	0.46703	T	0.11	.	11.1537	0.48476	0.0707:0.1286:0.8007:0.0	.	1622	Q9H7D0	DOCK5_HUMAN	F	1622	ENSP00000276440:L1622F	ENSP00000276440:L1622F	L	+	3	2	DOCK5	25314439	1.000000	0.71417	0.849000	0.33467	0.958000	0.62258	2.718000	0.47236	1.462000	0.47948	0.655000	0.94253	TTG		0.483	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		6	140	1	0	0.00116845	1	0.00124863	6	140					T	25258522	G	T	25258522	3	4	33	1	0	0	0	0	1	0	0	0	4692	1368	48	5	5052	5	DOCK5	8	25258522	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08		25258522	121105500	33	3169										
WHSC1L1	54904	broad.mit.edu	37	chr8	38178629	38178629	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ttctttggcacaacctcagtGgatttctctgattcagaacg	8	10	4	2			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr8:38178629G>T	ENST00000317025.8	-	8	2287	c.1770C>A	c.(1768-1770)tcC>tcA	p.S590S	WHSC1L1_ENST00000316985.3_Silent_p.S590S|WHSC1L1_ENST00000433384.2_Silent_p.S590S|WHSC1L1_ENST00000527502.1_Silent_p.S590S|WHSC1L1_ENST00000525081.1_5'Flank	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	590					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)			CAACCTCAGTGGATTTCTCTG	0.358			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.(1768-1770)tcC>tcA		Wolf-Hirschhorn syndrome candidate 1-like 1							176	162	166					8																	38178629		2202	4300	6502	SO:0001819	synonymous_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38178629G>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.1770C>A	8.37:g.38178629G>T			Somatic				WHSC1L1_ENST00000527502.1_Silent_p.S590S|WHSC1L1_ENST00000316985.3_Silent_p.S590S|WHSC1L1_ENST00000433384.2_Silent_p.S590S	p.S590S	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)		8	2287	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	590					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	ENST00000317025.8	37	c.1770C>A	CCDS43729.1																																																																																				0.358	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		22	37	1	0	1.10513e-12	1	1.24185e-12	22	37					T	38178629	G	T	38178629	2	4	33	1	0	0	0	0	0	0	0	1	17378	1335	47	5		5	WHSC1L1	8	38178629	Silent	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	12920107	38178629	108185393	34	3170										
PKHD1L1	93035	broad.mit.edu	37	chr8	110467013	110467013	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	taccttgcatggtcacctgcGatctcctgagctccctgtct	8	15	3	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr8:110467013G>C	ENST00000378402.5	+	45	6910	c.6806G>C	c.(6805-6807)cGa>cCa	p.R2269P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2269	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTCACCTGCGATCTCCTGAG	0.493										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.(6805-6807)cGa>cCa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							126	124	125					8																	110467013		2043	4198	6241	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110467013G>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.6806G>C	8.37:g.110467013G>C	ENSP00000367655:p.Arg2269Pro	HNSCC(38;0.096)	Somatic					p.R2269P	NM_177531.4	NP_803875.2	WXS	Illumina GAIIx	Phase_I	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		45	6910	+			2269			G8 1.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.6806G>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885024	0.91814	.	.	ENSG00000205038	ENST00000378402	D	0.89196	-2.48	5.66	5.66	0.87406	G8 domain (2);	0.000000	0.85682	D	0.000000	D	0.92227	0.7535	L	0.47016	1.485	0.43137	D	0.994885	D	0.60575	0.988	D	0.66497	0.944	D	0.92422	0.5946	10	0.62326	D	0.03	.	17.6144	0.88064	0.0:0.0:1.0:0.0	.	2269	Q86WI1	PKHL1_HUMAN	P	2269	ENSP00000367655:R2269P	ENSP00000367655:R2269P	R	+	2	0	PKHD1L1	110536189	1.000000	0.71417	0.892000	0.35008	0.893000	0.52053	8.076000	0.89503	2.832000	0.97577	0.655000	0.94253	CGA		0.493	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		34	42	0	0	0	1	0	34	42					C	110467013	G	C	110467013	3	2	33	1	0	0	0	0	1	0	0	0	11981	1058	37	2	6984	2	PKHD1L1	8	110467013	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	72288384	110467013	35897009	35	3171										
DMRT3	58524	broad.mit.edu	37	chr9	990202	990202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ccgtggaggaagggggatacGctgtccagaaaaacggaggc	17	8	0	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr9:990202G>A	ENST00000190165.2	+	2	654	c.616G>A	c.(616-618)Gct>Act	p.A206T		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	206					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A206T(1)|p.A69T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGGGGGATACGCTGTCCAGAA	0.597																																						ENST00000190165.2																			2	Substitution - Missense(2)	p.A206T(1)|p.A69T(1)	endometrium(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(616-618)Gct>Act		doublesex and mab-3 related transcription factor 3							53	60	58					9																	990202		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990202G>A	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.616G>A	9.37:g.990202G>A	ENSP00000190165:p.Ala206Thr		Somatic					p.A206T	NM_021240.2	NP_067063.1	WXS	Illumina GAIIx	Phase_I	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	654	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	206					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.616G>A	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	G	3.226	-0.158493	0.06544	.	.	ENSG00000064218	ENST00000190165;ENST00000417254	T;T	0.31247	1.5;1.5	4.83	1.92	0.25849	.	0.561550	0.19667	N	0.108847	T	0.23806	0.0576	L	0.60455	1.87	0.09310	N	1	B	0.28880	0.226	B	0.19148	0.024	T	0.13899	-1.0492	10	0.33141	T	0.24	-8.6698	6.5479	0.22416	0.1529:0.2782:0.569:0.0	.	206	Q9NQL9	DMRT3_HUMAN	T	206;69	ENSP00000190165:A206T;ENSP00000387472:A69T	ENSP00000190165:A206T	A	+	1	0	DMRT3	980202	0.992000	0.36948	0.001000	0.08648	0.012000	0.07955	2.213000	0.42844	0.107000	0.17824	-0.232000	0.12228	GCT		0.597	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		12	109	0	0	0	1	0	12	109					A	990202	G	A	990202	3	1	33	1	0	0	0	0	1	0	0	0	4589	1087	38	1	622	1	DMRT3	9	990202	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08		990202	140223229	36	3172										
TRPM6	140803	broad.mit.edu	37	chr9	77377523	77377523	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	agacagtttctgctgaaaaaGgaactcgctttagattagag	10	6	1	4			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr9:77377523G>C	ENST00000360774.1	-	26	4301	c.4064C>G	c.(4063-4065)cCt>cGt	p.P1355R	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.P1350R|TRPM6_ENST00000449912.2_Missense_Mutation_p.P1350R|TRPM6_ENST00000451710.3_Missense_Mutation_p.P1355R|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.P1355R	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1355					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						TGCTGAAAAAGGAACTCGCTT	0.478																																						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.(4063-4065)cCt>cGt		transient receptor potential cation channel, subfamily M, member 6							151	156	154					9																	77377523		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.chr9:77377523G>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.4064C>G	9.37:g.77377523G>C	ENSP00000354006:p.Pro1355Arg		Somatic				TRPM6_ENST00000449912.2_Missense_Mutation_p.P1350R|TRPM6_ENST00000360774.1_Missense_Mutation_p.P1355R|TRPM6_ENST00000376864.4_Missense_Mutation_p.P1355R|TRPM6_ENST00000361255.3_Missense_Mutation_p.P1350R|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron	p.P1355R			WXS	Illumina GAIIx	Phase_I	Q9BX84	TRPM6_HUMAN			26	4301	-			1355					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4064C>G	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904842	0.92035	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.55760	0.59;0.59;0.59;0.59;0.5	5.49	4.6	0.57074	.	0.775938	0.12667	N	0.449108	T	0.52175	0.1718	L	0.32530	0.975	0.25233	N	0.989811	P;P;P	0.46512	0.808;0.879;0.879	B;P;P	0.48921	0.391;0.595;0.595	T	0.46748	-0.9169	10	0.62326	D	0.03	.	13.3697	0.60707	0.0747:0.0:0.9253:0.0	.	1355;1350;1350	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	R	1355;1355;1350;1350;1355;1018;1018	ENSP00000354006:P1355R;ENSP00000407341:P1355R;ENSP00000396672:P1350R;ENSP00000354962:P1350R;ENSP00000366060:P1355R	ENSP00000309693:P1018R	P	-	2	0	TRPM6	76567343	0.998000	0.40836	0.888000	0.34837	0.863000	0.49368	7.222000	0.78025	1.562000	0.49601	0.655000	0.94253	CCT		0.478	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		6	144	0	0	0	1	0	6	144					C	77377523	G	C	77377523	3	2	33	1	0	0	0	0	1	0	0	0	16605	1000	35	5	2060	5	TRPM6	9	77377523	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	76387321	77377523	63835908	37	3173										
TPRN	286262	broad.mit.edu	37	chr9	140086700	140086700	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ccccccagcgctccactcccCcgcatctcaccatggcctcc	5	25	1	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr9:140086700C>T	ENST00000409012.4	-	3	2160				TPRN_ENST00000541945.1_5'Flank|TPRN_ENST00000321773.2_Missense_Mutation_p.G634E	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin						sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CTCCACTCCCCCGCATCTCAC	0.662																																						ENST00000321773.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						c.(1900-1902)gGg>gAg		taperin							44	51	48					9																	140086700		2203	4300	6503	SO:0001627	intron_variant	286262				sensory perception of sound	stereocilium		g.chr9:140086700C>T	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"chromosome 9 open reading frame 75", "deafness, autosomal recessive 79"	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.2073+10G>A	9.37:g.140086700C>T			Somatic				TPRN_ENST00000409012.4_Intron	p.G634E			WXS	Illumina GAIIx	Phase_I	Q4KMQ1	TPRN_HUMAN			3	1900	-			691					B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	ENST00000409012.4	37	c.1901G>A	CCDS56594.1	.	.	.	.	.	.	.	.	.	.	C	7.571	0.666686	0.14710	.	.	ENSG00000176058	ENST00000333046;ENST00000321773	.	.	.	2.13	1.22	0.21188	.	.	.	.	.	T	0.36276	0.0961	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31420	-0.9944	5	0.52906	T	0.07	.	4.6844	0.12750	0.0:0.8094:0.0:0.1906	.	.	.	.	E	493;634	.	ENSP00000313704:G634E	G	-	2	0	TPRN	139206521	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.516000	0.06282	0.447000	0.26695	0.462000	0.41574	GGG		0.662	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		53	57	0	0	0	1	0	53	57					T	140086700	C	T	140086700	1	4	33	0	1	0	0	0	0	0	0	0	16436	623	22	3		3	TPRN	9	140086700	Intron	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08	62709177	140086700	1126731	38	3174										
INPP5F	79892	broad.mit.edu	37	chr10	121586918	121586918	+	IGR	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	aatcaacagaacagacacctTctcggccatcgcaattagat	6	12	2	3	rs140846782		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr10:121586918T>A	ENST00000360003.3	-	0	4113				INPP5F_ENST00000361976.2_Missense_Mutation_p.S1009T|INPP5F_ENST00000369080.3_Missense_Mutation_p.S399T	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						ACAGACACCTTCTCGGCCATC	0.453																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(3025-3027)Tct>Act		inositol polyphosphate-5-phosphatase F							128	121	123					10																	121586918		2203	4300	6503	SO:0001628	intergenic_variant	22876						phosphoric ester hydrolase activity	g.chr10:121586918T>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121586918T>A			Somatic				INPP5F_ENST00000369080.3_Missense_Mutation_p.S399T	p.S1009T	NM_014937.3	NP_055752.1	WXS	Illumina GAIIx	Phase_I	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	20	3191	+		Lung NSC(174;0.109)|all_lung(145;0.142)	1009					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.3025T>A	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	T	6.962	0.547446	0.13312	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.50813	1.0;0.73	5.92	2.18	0.27775	.	0.300827	0.38548	N	0.001647	T	0.38746	0.1052	L	0.50333	1.59	0.80722	D	1	B;B	0.32245	0.361;0.181	B;B	0.32864	0.154;0.051	T	0.14144	-1.0483	10	0.36615	T	0.2	-4.6361	9.238	0.37477	0.0:0.2673:0.0:0.7327	.	399;1009	Q5W135;Q9Y2H2	.;SAC2_HUMAN	T	1009;399	ENSP00000354519:S1009T;ENSP00000358076:S399T	ENSP00000354519:S1009T	S	+	1	0	INPP5F	121576908	1.000000	0.71417	0.243000	0.24186	0.117000	0.20001	2.371000	0.44248	0.463000	0.27118	0.533000	0.62120	TCT		0.453	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		32	68	0	0	0	1	0	32	68					A	121586918	T	A	121586918	1	1	33	0	1	0	0	0	0	0	0	0	7767	1783	62	4		4	INPP5F	10	121586918	IGR	SNP	T	TCGA-N9-A4PZ-01A-22D-A28R-08		121586918	13947829	39	3175										
OR51T1	401665	broad.mit.edu	37	chr11	4903359	4903359	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	tgttgatctatgtctgaccaTtacgacccttcccactgtgc	7	13	2	2			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr11:4903359T>C	ENST00000322049.1	+	1	230	c.230T>C	c.(229-231)aTt>aCt	p.I77T	OR51T1_ENST00000380378.1_Missense_Mutation_p.I104T|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTCTGACCATTACGACCCTT	0.443																																						ENST00000380378.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(310-312)aTt>aCt		olfactory receptor, family 51, subfamily T, member 1							209	188	195					11																	4903359		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903359T>C	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.230T>C	11.37:g.4903359T>C	ENSP00000322679:p.Ile77Thr		Somatic				MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.I77T	p.I104T	NM_001004759.1	NP_001004759.1	WXS	Illumina GAIIx	Phase_I	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	311	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	77					Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.311T>C		.	.	.	.	.	.	.	.	.	.	T	9.858	1.195606	0.22037	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.01745	4.66;4.66	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.505935	0.16515	N	0.211079	T	0.01387	0.0045	N	0.05031	-0.125	0.09310	N	1	P	0.43231	0.801	B	0.43990	0.438	T	0.53180	-0.8475	10	0.49607	T	0.09	.	6.7498	0.23482	0.0:0.1039:0.0:0.8961	.	77	Q8NGJ9	O51T1_HUMAN	T	104;77	ENSP00000369738:I104T;ENSP00000322679:I77T	ENSP00000322679:I77T	I	+	2	0	OR51T1	4859935	0.000000	0.05858	0.642000	0.29436	0.627000	0.37826	0.954000	0.29175	1.923000	0.55706	0.397000	0.26171	ATT		0.443	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		20	20	0	0	0	1	0	20	20					C	4903359	T	C	4903359	3	2	33	1	0	0	0	0	1	0	0	0	11115	1493	52	4	313	4	OR51T1	11	4903359	Missense_Mutation	SNP	T	TCGA-N9-A4PZ-01A-22D-A28R-08		4903359	130103157	40	3176										
KIRREL3	84623	broad.mit.edu	37	chr11	126305176	126305176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	tccgtacctgcttccagcccGgctcccgacttcatttccga	7	18	1	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr11:126305176G>A	ENST00000525144.2	-	13	1824	c.1575C>T	c.(1573-1575)gcC>gcT	p.A525A	KIRREL3_ENST00000416561.2_Intron|KIRREL3_ENST00000529097.2_Intron|KIRREL3_ENST00000525704.2_Silent_p.A525A	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	525					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CTTCCAGCCCGGCTCCCGACT	0.607																																						ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(1573-1575)gcC>gcT		kin of IRRE like 3 (Drosophila)							67	74	72					11																	126305176		1898	4107	6005	SO:0001819	synonymous_variant	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126305176G>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1575C>T	11.37:g.126305176G>A			Somatic				KIRREL3_ENST00000416561.2_Intron|KIRREL3_ENST00000529097.2_Intron|KIRREL3_ENST00000525704.2_Silent_p.A525A	p.A525A	NM_032531.3	NP_115920.1	WXS	Illumina GAIIx	Phase_I	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	13	1824	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	525					Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	c.1575C>T	CCDS53723.1																																																																																				0.607	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		32	5	0	0	0	1	0	32	5					A	126305176	G	A	126305176	2	1	33	1	0	0	0	0	0	0	0	1	8335	1103	39	1		1	KIRREL3	11	126305176	Silent	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	121401817	126305176	8701340	41	3177										
TIMELESS	8914	broad.mit.edu	37	chr12	56817131	56817131	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ctgacagctgaaaaagtaggGcttccattttgaggtcatgg	12	7	1	3			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr12:56817131G>C	ENST00000553532.1	-	18	2369	c.2219C>G	c.(2218-2220)gCc>gGc	p.A740G	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Missense_Mutation_p.A739G					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AAAAAGTAGGGCTTCCATTTT	0.502																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(2215-2217)gCc>gGc		timeless circadian clock							152	141	144					12																	56817131		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.chr12:56817131G>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.2219C>G	12.37:g.56817131G>C	ENSP00000450607:p.Ala740Gly		Somatic				TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.A740G	p.A739G	NM_003920.3	NP_003911.2	WXS	Illumina GAIIx	Phase_I	Q9UNS1	TIM_HUMAN			18	2370	-			740						Missense_Mutation	SNP	ENST00000553532.1	37	c.2216C>G	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768237	0.49680	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.12039	2.72;2.72	5.61	5.61	0.85477	Timeless C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.15003	0.0362	L	0.38838	1.175	0.80722	D	1	B	0.29955	0.263	B	0.33392	0.163	T	0.07121	-1.0789	10	0.24483	T	0.36	-14.5641	18.7819	0.91937	0.0:0.0:1.0:0.0	.	740	Q9UNS1	TIM_HUMAN	G	739;740	ENSP00000229201:A739G;ENSP00000450607:A740G	ENSP00000229201:A740G	A	-	2	0	TIMELESS	55103398	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.200000	0.65158	2.815000	0.96918	0.561000	0.74099	GCC		0.502	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		28	82	0	0	0	1	0	28	82					C	56817131	G	C	56817131	3	2	33	1	0	0	0	0	1	0	0	0	15919	1203	42	5	1455	5	TIMELESS	12	56817131	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08		56817131	77034764	42	3178										
SLC5A8	160728	broad.mit.edu	37	chr12	101561910	101561910	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ggaaccaaaatgcccaaagcGaacaggcccataagtggtcc	10	12	0	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr12:101561910G>A	ENST00000536262.2	-	11	1842	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGCCCAAAGCGAACAGGCCCA	0.398																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1282-1284)ttC>ttT		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							99	83	88					12																	101561910		2203	4300	6503	SO:0001819	synonymous_variant	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101561910G>A	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.1284C>T	12.37:g.101561910G>A			Somatic					p.F428F	NM_145913.3	NP_666018.3	WXS	Illumina GAIIx	Phase_I	Q8N695	SC5A8_HUMAN			11	1842	-			428						Silent	SNP	ENST00000536262.2	37	c.1284C>T	CCDS9080.1																																																																																				0.398	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		4	16	0	0	0	1	0	4	16					A	101561910	G	A	101561910	2	1	33	1	0	0	0	0	0	0	0	1	14686	1049	37	1		1	SLC5A8	12	101561910	Silent	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	44744779	101561910	32289985	43	3179										
KNTC1	9735	broad.mit.edu	37	chr12	123075167	123075167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	cctgtaggtatttaattgtcGcttggtagatcttgacctgg	11	7	1	2	rs199554625		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr12:123075167G>A	ENST00000333479.7	+	41	4190	c.4013G>A	c.(4012-4014)cGc>cAc	p.R1338H	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1338					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTTAATTGTCGCTTGGTAGAT	0.368													G|||	1	0.000199681	8e-04	0	5008	,	,		16024	0		0	False		,,,				2504	0					ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(4012-4014)cGc>cAc		kinetochore associated 1							220	202	208					12																	123075167		1841	4097	5938	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123075167G>A		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4013G>A	12.37:g.123075167G>A	ENSP00000328236:p.Arg1338His		Somatic				KNTC1_ENST00000450485.2_Intron	p.R1338H	NM_014708.4	NP_055523.1	WXS	Illumina GAIIx	Phase_I	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	41	4190	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1338					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.4013G>A	CCDS45002.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	20.1	3.932228	0.73442	.	.	ENSG00000184445	ENST00000333479	T	0.16897	2.31	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	M	0.66939	2.045	0.80722	D	1	D	0.58620	0.983	B	0.41988	0.372	T	0.01626	-1.1309	10	0.45353	T	0.12	-11.638	13.8554	0.63524	0.0731:0.0:0.9269:0.0	.	1338	P50748	KNTC1_HUMAN	H	1338	ENSP00000328236:R1338H	ENSP00000328236:R1338H	R	+	2	0	KNTC1	121641120	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.322000	0.59215	2.650000	0.89964	0.585000	0.79938	CGC		0.368	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			5	124	0	0	0	1	0	5	124					A	123075167	G	A	123075167	3	1	33	1	0	0	0	0	1	0	0	0	8437	1087	38	1	4171	1	KNTC1	12	123075167	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	21513257	123075167	10776728	44	3180										
ABCB9	23457	broad.mit.edu	37	chr12	123435080	123435080	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	gatgacgatgccatcaatggCgcggcccgtgtagtagggca	15	10	1	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr12:123435080C>A	ENST00000542678.1	-	3	3472	c.634G>T	c.(634-636)Gcc>Tcc	p.A212S	ABCB9_ENST00000442833.2_Missense_Mutation_p.A212S|ABCB9_ENST00000442028.2_Missense_Mutation_p.A212S|ABCB9_ENST00000540285.1_Missense_Mutation_p.A212S|ABCB9_ENST00000344275.7_Missense_Mutation_p.A212S|ABCB9_ENST00000392439.3_Missense_Mutation_p.A212S|ABCB9_ENST00000280560.8_Missense_Mutation_p.A212S|ABCB9_ENST00000346530.5_Missense_Mutation_p.A212S			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	212	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)	p.A212T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CCATCAATGGCGCGGCCCGTG	0.632																																					Ovarian(49;786 1333 9175 38236)	ENST00000542678.1																			1	Substitution - Missense(1)	p.A212T(1)	ovary(1)	central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(634-636)Gcc>Tcc		ATP-binding cassette, sub-family B (MDR/TAP), member 9							106	79	88					12																	123435080		2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123435080C>A	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"ATP binding cassette transporters / subfamily B"	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.634G>T	12.37:g.123435080C>A	ENSP00000440288:p.Ala212Ser		Somatic				ABCB9_ENST00000346530.5_Missense_Mutation_p.A212S|ABCB9_ENST00000442028.2_Missense_Mutation_p.A212S|ABCB9_ENST00000344275.7_Missense_Mutation_p.A212S|ABCB9_ENST00000540285.1_Missense_Mutation_p.A212S|ABCB9_ENST00000280560.8_Missense_Mutation_p.A212S|ABCB9_ENST00000392439.3_Missense_Mutation_p.A212S|ABCB9_ENST00000442833.2_Missense_Mutation_p.A212S	p.A212S			WXS	Illumina GAIIx	Phase_I	Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	3	3472	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		212			ABC transmembrane type-1.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.634G>T	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552603	0.65425	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028	D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.6	5.6	0.85130	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.053759	0.64402	D	0.000001	D	0.89255	0.6663	L	0.34521	1.04	0.44780	D	0.997783	P;P;B;P	0.44195	0.673;0.643;0.271;0.828	P;B;B;P	0.49953	0.574;0.413;0.113;0.627	D	0.90198	0.4255	10	0.87932	D	0	-40.4307	19.6116	0.95608	0.0:1.0:0.0:0.0	.	212;212;212;212	B4E2J0;Q9NP78-3;Q9NP78-2;Q9NP78	.;.;.;ABCB9_HUMAN	S	212	ENSP00000280560:A212S;ENSP00000441734:A212S;ENSP00000280559:A212S;ENSP00000376234:A212S;ENSP00000440288:A212S;ENSP00000394898:A212S	ENSP00000280560:A212S	A	-	1	0	ABCB9	122001033	1.000000	0.71417	0.970000	0.41538	0.713000	0.41058	4.721000	0.61951	2.651000	0.90000	0.561000	0.74099	GCC		0.632	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		3	45	1	0	0.115264	1	0.117418	3	45					A	123435080	C	A	123435080	3	1	33	1	0	0	0	0	1	0	0	0	48	768	27	5	1706	5	ABCB9	12	123435080	Missense_Mutation	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08	359913	123435080	10416815	45	3181										
PITPNM2	57605	broad.mit.edu	37	chr12	123494604	123494604	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ctcgttgtggggcacagggtCtttgacaatgtcgatgaagt	14	7	1	2			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr12:123494604C>A	ENST00000542749.1	-	4	499	c.436G>T	c.(436-438)Gac>Tac	p.D146Y	PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_Missense_Mutation_p.D146Y|MIR4304_ENST00000580964.1_RNA|PITPNM2_ENST00000320201.4_Missense_Mutation_p.D146Y|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Missense_Mutation_p.D146Y			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	146					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GGCACAGGGTCTTTGACAATG	0.567																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(436-438)Gac>Tac		phosphatidylinositol transfer protein, membrane-associated 2							86	87	87					12																	123494604		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123494604C>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.436G>T	12.37:g.123494604C>A	ENSP00000437611:p.Asp146Tyr		Somatic				PITPNM2_ENST00000546049.1_Missense_Mutation_p.D146Y|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Missense_Mutation_p.D146Y|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Missense_Mutation_p.D146Y	p.D146Y			WXS	Illumina GAIIx	Phase_I	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	5	641	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		146					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.436G>T	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718813	0.89205	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000542749	T;T;T	0.50813	0.73;0.73;0.73	5.18	5.18	0.71444	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79873	0.4521	H	0.96365	3.81	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	0.86484	0.1793	10	0.87932	D	0	-41.025	19.0591	0.93080	0.0:1.0:0.0:0.0	.	146;146;146	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	Y	146	ENSP00000280562:D146Y;ENSP00000322218:D146Y;ENSP00000437611:D146Y	ENSP00000280562:D146Y	D	-	1	0	PITPNM2	122060557	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.609000	0.82925	2.597000	0.87782	0.655000	0.94253	GAC		0.567	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		62	54	1	0	7.92265e-33	1	9.48976e-33	62	54					A	123494604	C	A	123494604	3	1	33	1	0	0	0	0	1	0	0	0	11960	913	32	2	3697	2	PITPNM2	12	123494604	Missense_Mutation	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08	59524	123494604	10357291	46	3182										
MTUS2	23281	broad.mit.edu	37	chr13	29600313	29600313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	cctggaccctcaaagtggccGctcagaagcacgggaaagca	12	13	2	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr13:29600313G>A	ENST00000431530.3	+	1	1566	c.1508G>A	c.(1507-1509)cGc>cAc	p.R503H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	493						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						CAAAGTGGCCGCTCAGAAGCA	0.498																																						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.(1507-1509)cGc>cAc		microtubule associated tumor suppressor candidate 2							80	85	83					13																	29600313		1972	4143	6115	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600313G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1508G>A	13.37:g.29600313G>A	ENSP00000392057:p.Arg503His		Somatic					p.R503H	NM_001033602.2	NP_001028774.2	WXS	Illumina GAIIx	Phase_I	Q5JR59	MTUS2_HUMAN			1	1566	+			493					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1508G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	11.19	1.565259	0.27915	.	.	ENSG00000132938	ENST00000431530	T	0.11712	2.75	5.92	-0.372	0.12520	.	1.333950	0.04700	N	0.415575	T	0.05547	0.0146	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41070	-0.9529	9	.	.	.	.	6.3083	0.21151	0.4874:0.1275:0.385:0.0	.	493	Q5JR59	MTUS2_HUMAN	H	503	ENSP00000392057:R503H	.	R	+	2	0	MTUS2	28498313	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.279000	0.08479	-0.121000	0.11787	-0.136000	0.14681	CGC		0.498	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		21	11	0	0	0	1	0	21	11					A	29600313	G	A	29600313	3	1	33	1	0	0	0	0	1	0	0	0	9975	1087	38	1	1510	1	MTUS2	13	29600313	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08		29600313	85569565	47	3183										
DAAM1	23002	broad.mit.edu	37	chr14	59826213	59826213	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	gcgagatattcctcaagctgCgaaagtaaagtaagtactta	9	7	1	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr14:59826213C>A	ENST00000395125.1	+	21	2677	c.2654C>A	c.(2653-2655)gCg>gAg	p.A885E	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.A875E|DAAM1_ENST00000351081.1_Missense_Mutation_p.A885E	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	885	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)		CCTCAAGCTGCGAAAGTAAAG	0.378																																						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.(2653-2655)gCg>gAg		dishevelled associated activator of morphogenesis 1							83	71	75					14																	59826213		2202	4299	6501	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59826213C>A	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.2654C>A	14.37:g.59826213C>A	ENSP00000378557:p.Ala885Glu		Somatic				DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.A875E|DAAM1_ENST00000351081.1_Missense_Mutation_p.A885E	p.A885E	NM_014992.2	NP_055807.1	WXS	Illumina GAIIx	Phase_I	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	21	2677	+			885			FH2.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.2654C>A	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	32	5.108702	0.94292	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.21932	1.98;1.98;1.98	5.69	5.69	0.88448	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.60340	0.2261	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.68334	-0.5436	10	0.56958	D	0.05	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	875;885	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	E	875;885;854;885	ENSP00000354162:A875E;ENSP00000247170:A885E;ENSP00000378557:A885E	ENSP00000247170:A885E	A	+	2	0	DAAM1	58895966	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.982000	0.70532	2.840000	0.97914	0.655000	0.94253	GCG		0.378	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		6	13	1	0	3.59834e-05	1	3.92219e-05	6	13					A	59826213	C	A	59826213	3	1	33	1	0	0	0	0	1	0	0	0	4217	768	27	5	2736	5	DAAM1	14	59826213	Missense_Mutation	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08		59826213	47523327	48	3184										
IQGAP1	8826	broad.mit.edu	37	chr15	90931626	90931626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	cgtggcccggccgcactatgGctgtgagtgcggggctccgc	17	14	0	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr15:90931626G>A	ENST00000268182.5	+	1	177	c.53G>A	c.(52-54)gGc>gAc	p.G18D	IQGAP1_ENST00000560738.1_Missense_Mutation_p.G18D	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	18					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)			CCGCACTATGGCTGTGAGTGC	0.716																																						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.(52-54)gGc>gAc		IQ motif containing GTPase activating protein 1																																				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.chr15:90931626G>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.53G>A	15.37:g.90931626G>A	ENSP00000268182:p.Gly18Asp		Somatic				IQGAP1_ENST00000560738.1_Missense_Mutation_p.G18D	p.G18D	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)		1	177	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		18					A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.53G>A	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	3.949	-0.012670	0.07727	.	.	ENSG00000140575	ENST00000268182	T	0.02656	4.21	3.51	2.59	0.31030	.	0.165435	0.43110	D	0.000615	T	0.07098	0.0180	M	0.61703	1.905	0.25416	N	0.988317	D	0.58970	0.984	P	0.54924	0.764	T	0.10730	-1.0617	10	0.66056	D	0.02	-8.051	6.5677	0.22521	0.1369:0.0:0.8631:0.0	.	18	P46940	IQGA1_HUMAN	D	18	ENSP00000268182:G18D	ENSP00000268182:G18D	G	+	2	0	IQGAP1	88732630	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	4.801000	0.62532	0.682000	0.31407	0.313000	0.20887	GGC		0.716	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		4	9	0	0	0	1	0	4	9					A	90931626	G	A	90931626	3	1	33	1	0	0	0	0	1	0	0	0	7823	1203	42	3	55	3	IQGAP1	15	90931626	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08		90931626	11599766	49	3185										
SSTR5	6755	broad.mit.edu	37	chr16	1129080	1129080	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ggtgctgcgcttcgccaagaTgaagaccgtcaccaacatct	10	13	2	3			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:1129080T>C	ENST00000293897.4	+	1	300	c.212T>C	c.(211-213)aTg>aCg	p.M71T	SSTR5_ENST00000397547.2_Missense_Mutation_p.M71T|SSTR5_ENST00000562758.1_Missense_Mutation_p.M71T|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	71					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TTCGCCAAGATGAAGACCGTC	0.647																																						ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(211-213)aTg>aCg		somatostatin receptor 5	Octreotide(DB00104)						92	67	75					16																	1129080		2192	4293	6485	SO:0001583	missense	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129080T>C	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.212T>C	16.37:g.1129080T>C	ENSP00000293897:p.Met71Thr		Somatic				SSTR5_ENST00000562758.1_Missense_Mutation_p.M71T|SSTR5_ENST00000397547.2_Missense_Mutation_p.M71T	p.M71T	NM_001053.3	NP_001044.1	WXS	Illumina GAIIx	Phase_I	P35346	SSR5_HUMAN			1	300	+		Hepatocellular(780;0.00369)	71					P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.212T>C	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	T	7.050	0.564344	0.13498	.	.	ENSG00000162009	ENST00000397547;ENST00000293897;ENST00000539762	T;T	0.19806	2.12;2.12	4.86	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.048643	0.85682	D	0.000000	T	0.27454	0.0674	M	0.80183	2.485	0.47698	D	0.999494	B	0.13145	0.007	B	0.21151	0.033	T	0.05818	-1.0862	10	0.56958	D	0.05	.	9.8067	0.40797	0.0:0.0827:0.0:0.9173	.	71	P35346	SSR5_HUMAN	T	71	ENSP00000380680:M71T;ENSP00000293897:M71T	ENSP00000293897:M71T	M	+	2	0	SSTR5	1069081	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	3.054000	0.49908	0.707000	0.31934	-0.589000	0.04120	ATG		0.647	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			15	22	0	0	0	1	0	15	22					C	1129080	T	C	1129080	3	2	33	1	0	0	0	0	1	0	0	0	15216	1464	51	4	214	4	SSTR5	16	1129080	Missense_Mutation	SNP	T	TCGA-N9-A4PZ-01A-22D-A28R-08		1129080	89225673	50	3186										
RNF151	146310	broad.mit.edu	37	chr16	2018541	2018541	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ggcctgccccaacgagggctGcacctcgcaggtgccgcgtg	15	16	0	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:2018541G>T	ENST00000569714.1	+	4	361	c.353G>T	c.(352-354)tGc>tTc	p.C118F	RNF151_ENST00000569210.2_3'UTR|RNF151_ENST00000321392.3_Missense_Mutation_p.C117F	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	118					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2						AACGAGGGCTGCACCTCGCAG	0.697																																						ENST00000569714.1																			0				kidney(1)|lung(1)	2						c.(352-354)tGc>tTc		ring finger protein 151							14	15	15					16																	2018541		2021	4158	6179	SO:0001583	missense	146310				cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2018541G>T	BC029501	CCDS58405.1	16p13.3	2013-01-09			ENSG00000179580	ENSG00000179580		"RING-type (C3HC4) zinc fingers"	23235	protein-coding gene	gene with protein product						12477932	Standard	NM_174903		Approved		uc002cnt.1	Q2KHN1	OTTHUMG00000176852	ENST00000569714.1:c.353G>T	16.37:g.2018541G>T	ENSP00000456566:p.Cys118Phe		Somatic				RNF151_ENST00000321392.3_Missense_Mutation_p.C117F|RNF151_ENST00000569210.2_3'UTR	p.C118F	NM_174903.4	NP_777563.2	WXS	Illumina GAIIx	Phase_I	Q2KHN1	RN151_HUMAN			4	361	+			118					Q8NHS5	Missense_Mutation	SNP	ENST00000569714.1	37	c.353G>T	CCDS58405.1	.	.	.	.	.	.	.	.	.	.	g	16.39	3.110152	0.56398	.	.	ENSG00000179580	ENST00000321392	D	0.95137	-3.62	5.25	5.25	0.73442	Zinc finger, TRAF-type (1);TRAF-like (1);Seven In Absentia Homolog-type (1);Zinc finger, SIAH-type (1);	0.000000	0.85682	D	0.000000	D	0.97244	0.9099	M	0.87180	2.865	0.58432	D	0.999999	D	0.71674	0.998	D	0.68765	0.96	D	0.97810	1.0250	10	0.87932	D	0	-19.2379	14.3602	0.66766	0.0:0.0:1.0:0.0	.	118	Q2KHN1	RN151_HUMAN	F	117	ENSP00000325794:C117F	ENSP00000325794:C117F	C	+	2	0	RNF151	1958542	1.000000	0.71417	0.980000	0.43619	0.267000	0.26476	5.376000	0.66178	2.457000	0.83068	0.655000	0.94253	TGC		0.697	RNF151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434030.1	NM_174903		3	19	1	0	0.004672	1	0.00494416	3	19					T	2018541	G	T	2018541	3	4	33	1	0	0	0	0	1	0	0	0	13467	1319	46	5	367	5	RNF151	16	2018541	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	889461	2018541	88336212	51	3187										
FLYWCH1	84256	broad.mit.edu	37	chr16	2983818	2983818	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ctggggagaaggtgtattggAcctgccgggaccaggcccgc	17	11	0	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:2983818A>C	ENST00000253928.9	+	6	1756	c.1351A>C	c.(1351-1353)Acc>Ccc	p.T451P	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.T451P|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.T450P			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	451						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						GGTGTATTGGACCTGCCGGGA	0.692																																						ENST00000399667.2																			0				kidney(1)|lung(3)	4						c.(1351-1353)Acc>Ccc		FLYWCH-type zinc finger 1							14	19	17					16																	2983818		1914	4090	6004	SO:0001583	missense	84256					nucleus	DNA binding|metal ion binding	g.chr16:2983818A>C	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"Zinc fingers"	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1351A>C	16.37:g.2983818A>C	ENSP00000253928:p.Thr451Pro		Somatic				FLYWCH1_ENST00000253928.9_Missense_Mutation_p.T451P|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.T450P	p.T451P			WXS	Illumina GAIIx	Phase_I	Q4VC44	FWCH1_HUMAN			6	1714	+			451					D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37	c.1351A>C		.	.	.	.	.	.	.	.	.	.	A	13.64	2.298727	0.40694	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	3.64	3.64	0.41730	Zinc finger, FLYWCH-type (1);	.	.	.	.	T	0.56514	0.1990	L	0.40543	1.245	0.30391	N	0.78095	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.87578	0.996;0.992;0.998	T	0.53704	-0.8401	8	0.54805	T	0.06	.	8.9563	0.35820	1.0:0.0:0.0:0.0	.	451;451;450	Q4VC44-3;Q4VC44;Q4VC44-2	.;FWCH1_HUMAN;.	P	451;451;450	.	ENSP00000253928:T451P	T	+	1	0	FLYWCH1	2923819	0.982000	0.34865	0.998000	0.56505	0.220000	0.24768	2.685000	0.46959	1.884000	0.54569	0.379000	0.24179	ACC		0.692	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		4	12	0	0	0	1	0	4	12					C	2983818	A	C	2983818	3	2	33	1	0	0	0	0	1	0	0	0	5955	275	10	4	1362	4	FLYWCH1	16	2983818	Missense_Mutation	SNP	A	TCGA-N9-A4PZ-01A-22D-A28R-08	965277	2983818	87370935	52	3188										
ZNF174	7727	broad.mit.edu	37	chr16	3452156	3452156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ctgccgccagagcttcagacGcttttgttatcaagaggtgt	11	10	2	3			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:3452156G>A	ENST00000268655.4	+	1	737	c.152G>A	c.(151-153)cGc>cAc	p.R51H	ZSCAN32_ENST00000396852.4_5'Flank|ZSCAN32_ENST00000573830.1_5'Flank|ZNF174_ENST00000572544.1_Missense_Mutation_p.R51H|ZNF174_ENST00000575752.1_Missense_Mutation_p.R51H|ZSCAN32_ENST00000304926.3_5'Flank|ZSCAN32_ENST00000439568.2_5'Flank|ZSCAN32_ENST00000422427.2_5'Flank|ZNF174_ENST00000571936.1_Missense_Mutation_p.R51H|ZNF174_ENST00000344823.5_Missense_Mutation_p.R51H	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	51					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						AGCTTCAGACGCTTTTGTTAT	0.547																																						ENST00000268655.4																			0				endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						c.(151-153)cGc>cAc		zinc finger protein 174							122	139	133					16																	3452156		2197	4300	6497	SO:0001583	missense	7727				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:3452156G>A	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"-", "Zinc fingers, C2H2-type"	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.152G>A	16.37:g.3452156G>A	ENSP00000268655:p.Arg51His		Somatic				ZNF174_ENST00000575752.1_Missense_Mutation_p.R51H|ZNF174_ENST00000571936.1_Missense_Mutation_p.R51H|ZNF174_ENST00000344823.5_Missense_Mutation_p.R51H|ZNF174_ENST00000572544.1_Missense_Mutation_p.R51H|LA16c-306E5.2_ENST00000575785.1_RNA	p.R51H	NM_003450.2	NP_003441.1	WXS	Illumina GAIIx	Phase_I	Q15697	ZN174_HUMAN			1	737	+			51					Q53Y68|Q9BQ34	Missense_Mutation	SNP	ENST00000268655.4	37	c.152G>A	CCDS10504.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336213	0.41398	.	.	ENSG00000103343	ENST00000344823;ENST00000268655	T;T	0.04234	3.67;3.67	4.5	-2.28	0.06826	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.721167	0.12187	N	0.491535	T	0.01940	0.0061	N	0.02765	-0.5	0.22918	N	0.998567	B;B;B	0.14805	0.002;0.011;0.002	B;B;B	0.06405	0.001;0.001;0.002	T	0.47407	-0.9120	10	0.23891	T	0.37	.	9.0403	0.36314	0.6662:0.0:0.3338:0.0	.	51;51;51	Q15697;Q15697-2;Q8IZN5	ZN174_HUMAN;.;.	H	51	ENSP00000339781:R51H;ENSP00000268655:R51H	ENSP00000268655:R51H	R	+	2	0	ZNF174	3392157	0.000000	0.05858	0.419000	0.26584	0.966000	0.64601	-0.266000	0.08631	-0.376000	0.07943	0.655000	0.94253	CGC		0.547	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450		8	388	0	0	0	1	0	8	388					A	3452156	G	A	3452156	3	1	33	1	0	0	0	0	1	0	0	0	17759	1087	38	1	154	1	ZNF174	16	3452156	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	468338	3452156	86902597	53	3189										
C16orf90	646174	broad.mit.edu	37	chr16	3543946	3543946	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	gagcctagaaggactaggctGggggagggcacccttgtctg	17	9	1	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:3543946G>A	ENST00000437192.3	-	3	444	c.442C>T	c.(442-444)Cag>Tag	p.Q148*	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	138										large_intestine(1)	1						GGACTAGGCTGGGGGAGGGCA	0.627																																						ENST00000437192.3																			0				large_intestine(1)	1						c.(442-444)Cag>Tag		chromosome 16 open reading frame 90							23	25	24					16																	3543946		1893	4100	5993	SO:0001587	stop_gained	646174							g.chr16:3543946G>A		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.442C>T	16.37:g.3543946G>A	ENSP00000401335:p.Gln148*		Somatic				LA16c-306E5.3_ENST00000574423.2_RNA	p.Q148*	NM_001080524.1	NP_001073993.1	WXS	Illumina GAIIx	Phase_I	A8MZG2	CP090_HUMAN			3	444	-			138						Nonsense_Mutation	SNP	ENST00000437192.3	37	c.442C>T	CCDS45397.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.38|16.38	3.106644|3.106644	0.56291|0.56291	.|.	.|.	ENSG00000215131|ENSG00000215131	ENST00000399645|ENST00000437192	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.649769	.|0.11656	.|U	.|0.542337	T|.	0.74665|.	0.3746|.	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999993|0.999993	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.72686|.	-0.4218|.	5|.	0.51188|0.62326	T|D	0.08|0.03	-3.1405|-3.1405	15.0163|15.0163	0.71588|0.71588	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	156|148	.|.	ENSP00000382553:P156L|ENSP00000401335:Q148X	P|Q	-|-	2|1	0|0	C16orf90|C16orf90	3483947|3483947	1.000000|1.000000	0.71417|0.71417	0.877000|0.877000	0.34402|0.34402	0.417000|0.417000	0.31264|0.31264	4.711000|4.711000	0.61881|0.61881	2.621000|2.621000	0.88768|0.88768	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.627	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		6	13	0	0	0	1	0	6	13					A	3543946	G	A	3543946	4	1	33	1	0	0	0	0	0	1	0	0	1845	1357	47	3	110	3	C16orf90	16	3543946	Nonsense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	91790	3543946	86810807	54	3190										
LOC100132247	100132247	broad.mit.edu	37	chr16	22546256	22546256	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	gcagatgataatatcaagacAcctgccgagcgtctgcgggg	13	10	2	3			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:22546256A>T	ENST00000517539.1	+	8	2027	c.1952A>T	c.(1951-1953)cAc>cTc	p.H651L	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000424340.1_Missense_Mutation_p.H651L			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	651	Pro-rich.					integral component of membrane (GO:0016021)											ATATCAAGACACCTGCCGAGC	0.577																																						ENST00000424340.1																			0											c.(1951-1953)cAc>cTc		nuclear pore complex interacting protein family, member B5							2	4	3					16																	22546256		560	1308	1868	SO:0001583	missense	100132247							g.chr16:22546256A>T		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1952A>T	16.37:g.22546256A>T	ENSP00000430633:p.His651Leu		Somatic				NPIPB5_ENST00000517539.1_Missense_Mutation_p.H651L|NPIPB5_ENST00000415654.1_3'UTR	p.H651L	NM_001135865.1	NP_001129337.1	WXS	Illumina GAIIx	Phase_I					7	2231	+								B4DK13	Missense_Mutation	SNP	ENST00000517539.1	37	c.1952A>T	CCDS45443.1	.	.	.	.	.	.	.	.	.	.	.	7.949	0.744493	0.15710	.	.	ENSG00000243716	ENST00000424340;ENST00000342168;ENST00000457705;ENST00000503072;ENST00000517539	T;T	0.20463	2.07;2.07	.	.	.	.	.	.	.	.	T	0.10208	0.0250	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.38351	-0.9665	4	0.08837	T	0.75	.	.	.	.	.	644;651	F5GWX0;A8MRT5	.;K220L_HUMAN	L	651;644;408;529;651	ENSP00000440703:H651L;ENSP00000430633:H651L	ENSP00000441680:H644L	H	+	2	0	RP11-368J21.2	22453757	0.056000	0.20664	.	.	.	.	0.072000	0.14617	.	.	.	.	CAC		0.577	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		6	162	0	0	0	1	0	6	162					T	22546256	A	T	22546256	3	4	33	1	0	0	0	0	1	0	0	0	8877	159	6	4	1978	4	LOC100132247	16	22546256	Missense_Mutation	SNP	A	TCGA-N9-A4PZ-01A-22D-A28R-08	19002310	22546256	67808497	55	3191										
ZNF267	10308	broad.mit.edu	37	chr16	31927691	31927691	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	tcatacctcactacacatcgGagaagtcatagtggagagag	10	9	3	2			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:31927691G>T	ENST00000300870.10	+	4	2330	c.2121G>T	c.(2119-2121)cgG>cgT	p.R707R		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	707					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)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CTACACATCGGAGAAGTCATA	0.438																																						ENST00000300870.10																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(2119-2121)cgG>cgT		zinc finger protein 267							95	87	90					16																	31927691		2197	4300	6497	SO:0001819	synonymous_variant	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31927691G>T	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.2121G>T	16.37:g.31927691G>T			Somatic				RP11-170L3.8_ENST00000575471.1_RNA	p.R707R	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	WXS	Illumina GAIIx	Phase_I	Q14586	ZN267_HUMAN			4	2330	+			707					A0JNZ9|Q8NE41|Q9NRJ0	Silent	SNP	ENST00000300870.10	37	c.2121G>T	CCDS32440.1																																																																																				0.438	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		25	17	1	0	1.1804e-14	1	1.36876e-14	25	17					T	31927691	G	T	31927691	2	4	33	1	0	0	0	0	0	0	0	1	17821	1161	41	2		2	ZNF267	16	31927691	Silent	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	9381435	31927691	58427062	56	3192										
LRRC36	55282	broad.mit.edu	37	chr16	67400946	67400946	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	gacactactcgcctcgtcagTccacagtccgatccccagag	8	17	1	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:67400946T>C	ENST00000329956.6	+	8	800	c.781T>C	c.(781-783)Tcc>Ccc	p.S261P	LRRC36_ENST00000563189.1_Missense_Mutation_p.S140P|LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000435835.3_Missense_Mutation_p.S140P|LRRC36_ENST00000541146.1_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	261										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)		GCCTCGTCAGTCCACAGTCCG	0.433																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(781-783)Tcc>Ccc		leucine rich repeat containing 36							90	93	92					16																	67400946		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67400946T>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.781T>C	16.37:g.67400946T>C	ENSP00000329943:p.Ser261Pro		Somatic				LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000435835.3_Missense_Mutation_p.S140P|LRRC36_ENST00000563189.1_Missense_Mutation_p.S140P|LRRC36_ENST00000290940.7_5'UTR	p.S261P	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)	8	800	+		Ovarian(137;0.192)	261					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.781T>C	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.500924	0.64298	.	.	ENSG00000159708	ENST00000329956;ENST00000435835	T;T	0.45668	2.62;0.89	6.16	1.31	0.21738	.	0.930222	0.09269	N	0.825450	T	0.48187	0.1486	L	0.50333	1.59	0.28637	N	0.907347	B;D;B	0.63880	0.007;0.993;0.003	B;P;B	0.61201	0.016;0.885;0.004	T	0.36286	-0.9754	10	0.45353	T	0.12	0.8452	2.1037	0.03686	0.2695:0.0745:0.1405:0.5156	.	140;140;261	B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;LRC36_HUMAN	P	261;140	ENSP00000329943:S261P;ENSP00000411122:S140P	ENSP00000329943:S261P	S	+	1	0	LRRC36	65958447	0.413000	0.25400	0.265000	0.24526	0.902000	0.53008	0.170000	0.16663	-0.051000	0.13334	-0.297000	0.09499	TCC		0.433	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		5	102	0	0	0	1	0	5	102					C	67400946	T	C	67400946	3	2	33	1	0	0	0	0	1	0	0	0	8999	1667	58	4	839	4	LRRC36	16	67400946	Missense_Mutation	SNP	T	TCGA-N9-A4PZ-01A-22D-A28R-08	35473255	67400946	22953807	57	3193										
SLC7A6	9057	broad.mit.edu	37	chr16	68308894	68308894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ttgtgtgggccattggtgggCtcttctctgttgtgggtgcc	16	8	2	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:68308894C>T	ENST00000566454.1	+	4	534	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	SLC7A6_ENST00000219343.6_Missense_Mutation_p.L89F	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CATTGGTGGGCTCTTCTCTGT	0.552																																						ENST00000566454.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16						c.(265-267)Ctc>Ttc		solute carrier family 7 (amino acid transporter light chain, y+L system), member 6							141	141	141					16																	68308894		2198	4300	6498	SO:0001583	missense	9057				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity	g.chr16:68308894C>T	D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"Solute carriers"	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.265C>T	16.37:g.68308894C>T	ENSP00000455064:p.Leu89Phe		Somatic				SLC7A6_ENST00000219343.6_Missense_Mutation_p.L89F	p.L89F	NM_001076785.2	NP_001070253.1	WXS	Illumina GAIIx	Phase_I	Q92536	YLAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)	4	534	+		Ovarian(137;0.0563)	89						Missense_Mutation	SNP	ENST00000566454.1	37	c.265C>T	CCDS32470.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.788301	0.49997	.	.	ENSG00000103064	ENST00000219343;ENST00000379152	D;D	0.90069	-2.61;-2.61	5.69	3.62	0.41486	Amino acid permease domain (1);	0.172900	0.51477	D	0.000085	D	0.84511	0.5488	L	0.56340	1.77	0.36825	D	0.886594	B	0.21309	0.054	B	0.27262	0.078	T	0.82273	-0.0539	10	0.46703	T	0.11	.	6.2146	0.20648	0.2932:0.6128:0.0:0.0941	.	89	Q92536	YLAT2_HUMAN	F	89	ENSP00000219343:L89F;ENSP00000368448:L89F	ENSP00000219343:L89F	L	+	1	0	SLC7A6	66866395	0.940000	0.31905	1.000000	0.80357	0.998000	0.95712	0.592000	0.23984	1.407000	0.46875	0.650000	0.86243	CTC		0.552	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432466.1	NM_003983		4	97	0	0	0	1	0	4	97					T	68308894	C	T	68308894	3	4	33	1	0	0	0	0	1	0	0	0	14716	797	28	3	267	3	SLC7A6	16	68308894	Missense_Mutation	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08	907948	68308894	22045859	58	3194										
ZFP90	146198	broad.mit.edu	37	chr16	68597568	68597568	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	atgtggaaaggccttcaggcAtagctcatctcttggtcagc	11	10	4	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:68597568A>G	ENST00000570495.1	+	5	1170	c.878A>G	c.(877-879)cAt>cGt	p.H293R	ZFP90_ENST00000398253.2_Missense_Mutation_p.H293R|ZFP90_ENST00000563169.2_Missense_Mutation_p.H293R			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	293					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	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(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GCCTTCAGGCATAGCTCATCT	0.488																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(877-879)cAt>cGt		ZFP90 zinc finger protein							84	93	90					16																	68597568		2184	4292	6476	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68597568A>G	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"Zinc fingers, C2H2-type", "-"	23329	protein-coding gene	gene with protein product		609451	"zinc finger protein 90 homolog (mouse)"			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.878A>G	16.37:g.68597568A>G	ENSP00000460547:p.His293Arg		Somatic				ZFP90_ENST00000563169.2_Missense_Mutation_p.H293R|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Missense_Mutation_p.H293R	p.H293R			WXS	Illumina GAIIx	Phase_I	Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	1170	+		Ovarian(137;0.192)	293					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.878A>G	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.890446	0.33348	.	.	ENSG00000184939	ENST00000398253	T	0.17691	2.26	6.16	5.08	0.68730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06735	0.0172	N	0.02539	-0.55	0.09310	N	0.999999	P	0.40360	0.714	B	0.37091	0.241	T	0.18147	-1.0346	9	0.20046	T	0.44	-11.2938	9.8846	0.41253	0.9214:0.0:0.0786:0.0	.	293	Q8TF47	ZFP90_HUMAN	R	293	ENSP00000381304:H293R	ENSP00000381304:H293R	H	+	2	0	ZFP90	67155069	0.000000	0.05858	0.998000	0.56505	0.994000	0.84299	0.899000	0.28417	2.367000	0.80283	0.528000	0.53228	CAT		0.488	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		54	30	0	0	0	1	0	54	30					G	68597568	A	G	68597568	3	3	33	1	0	0	0	0	1	0	0	0	17669	217	8	4	892	4	ZFP90	16	68597568	Missense_Mutation	SNP	A	TCGA-N9-A4PZ-01A-22D-A28R-08	288674	68597568	21757185	59	3195										
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	p.R248Q	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	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		36	5	0	0	0	1	0	36	5					T	7577538	C	T	7577538	3	4	33	1	0	0	0	0	1	0	0	0	16396	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08		7577538	73617672	60	3196										
TBX2	6909	broad.mit.edu	37	chr17	59485535	59485535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	cagctgccgccgccgcagccGccggctccctctcccggagc	12	22	1	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr17:59485535G>A	ENST00000240328.3	+	7	2088	c.1807G>A	c.(1807-1809)Gcc>Acc	p.A603T	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	603	Ala-rich.				aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						cgccgcagccgccgGCTCCCT	0.701																																					GBM(3;187 253 11467 14965 23079)	ENST00000240328.3																			0				endometrium(1)|lung(7)|ovary(1)	9						c.(1807-1809)Gcc>Acc		T-box 2							15	18	17					17																	59485535		2181	4279	6460	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59485535G>A	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"T-boxes"	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1807G>A	17.37:g.59485535G>A	ENSP00000240328:p.Ala603Thr		Somatic				RP11-332H18.4_ENST00000592009.1_RNA	p.A603T	NM_005994.3	NP_005985.3	WXS	Illumina GAIIx	Phase_I	Q13207	TBX2_HUMAN			7	2088	+			603			Ala-rich.		Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.1807G>A	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081018	0.36758	.	.	ENSG00000121068	ENST00000240328	D	0.86694	-2.16	5.01	5.01	0.66863	.	0.377447	0.30020	N	0.010616	T	0.79787	0.4506	N	0.24115	0.695	0.39906	D	0.973969	P	0.52842	0.956	B	0.39299	0.296	D	0.84356	0.0535	10	0.62326	D	0.03	.	17.061	0.86547	0.0:0.0:1.0:0.0	.	603	Q13207	TBX2_HUMAN	T	603	ENSP00000240328:A603T	ENSP00000240328:A603T	A	+	1	0	TBX2	56840317	1.000000	0.71417	0.538000	0.28064	0.126000	0.20510	4.077000	0.57598	2.608000	0.88229	0.655000	0.94253	GCC		0.701	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		5	59	0	0	0	1	0	5	59					A	59485535	G	A	59485535	3	1	33	1	0	0	0	0	1	0	0	0	15670	1087	38	1	1833	1	TBX2	17	59485535	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	51907997	59485535	21709675	61	3197										
SDK2	54549	broad.mit.edu	37	chr17	71344825	71344825	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	tatttggtgacatcctcatcCgagtagtgcaggctgcctgg	12	10	1	1	rs150319493	byFrequency	TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr17:71344825C>G	ENST00000392650.3	-	44	6078	c.6078G>C	c.(6076-6078)tcG>tcC	p.S2026S	SDK2_ENST00000388726.3_Silent_p.S2007S|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2026					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CATCCTCATCCGAGTAGTGCA	0.642																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(6076-6078)tcG>tcC		sidekick cell adhesion molecule 2							62	57	59					17																	71344825		2203	4300	6503	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71344825C>G	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6078G>C	17.37:g.71344825C>G			Somatic				SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.S2007S	p.S2026S	NM_001144952.1	NP_001138424.1	WXS	Illumina GAIIx	Phase_I	Q58EX2	SDK2_HUMAN			44	6078	-			2026					A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.6078G>C	CCDS45769.1																																																																																				0.642	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		4	56	0	0	0	1	0	4	56					G	71344825	C	G	71344825	2	3	33	1	0	0	0	0	0	0	0	1	13984	639	23	5		5	SDK2	17	71344825	Silent	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08	11859290	71344825	9850385	62	3198										
ZNF750	79755	broad.mit.edu	37	chr17	80788321	80788321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	tgctcctcgctgctgtccacCgcgcatgcgtctggagcctc	11	17	1	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr17:80788321C>T	ENST00000269394.3	-	3	2702	c.1869G>A	c.(1867-1869)gcG>gcA	p.A623A	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Silent_p.A224A	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	623					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)			TGCTGTCCACCGCGCATGCGT	0.711																																						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.(1867-1869)gcG>gcA		zinc finger protein 750							28	30	29					17																	80788321		2201	4299	6500	SO:0001819	synonymous_variant	79755					intracellular	zinc ion binding	g.chr17:80788321C>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.1869G>A	17.37:g.80788321C>T			Somatic				TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Silent_p.A224A	p.A623A	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	2702	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	623					Q9H899	Silent	SNP	ENST00000269394.3	37	c.1869G>A	CCDS11819.1																																																																																				0.711	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		17	58	0	0	0	1	0	17	58					T	80788321	C	T	80788321	2	4	33	1	0	0	0	0	0	0	0	1	18147	639	23	1		1	ZNF750	17	80788321	Silent	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08	9443496	80788321	406889	63	3199										
ABCA7	10347	broad.mit.edu	37	chr19	1044627	1044627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ggcagcccagacctggaggcCgggaccacatggaggccctg	16	14	0	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:1044627C>T	ENST00000263094.6	+	11	1330	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	ABCA7_ENST00000433129.1_Missense_Mutation_p.R367W|ABCA7_ENST00000435683.2_Missense_Mutation_p.R229W	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	367					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)		ACCTGGAGGCCGGGACCACAT	0.657																																						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.(1099-1101)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 7							61	73	69					19																	1044627		2203	4300	6503	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.chr19:1044627C>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.1099C>T	19.37:g.1044627C>T	ENSP00000263094:p.Arg367Trp		Somatic				ABCA7_ENST00000435683.2_Missense_Mutation_p.R229W|ABCA7_ENST00000433129.1_Missense_Mutation_p.R367W	p.R367W	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)	11	1330	+		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)	367					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1099C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809527	0.50421	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86562	-2.14;-2.14	2.79	-2.88	0.05682	.	.	.	.	.	T	0.68586	0.3017	N	0.00661	-1.28	0.09310	N	1	D;P	0.56521	0.976;0.927	P;P	0.54924	0.764;0.586	T	0.62558	-0.6829	9	0.66056	D	0.02	.	1.2685	0.02016	0.3782:0.309:0.1862:0.1266	.	229;367	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	W	367	ENSP00000263094:R367W;ENSP00000414062:R367W	ENSP00000263094:R367W	R	+	1	2	ABCA7	995627	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.421000	0.07053	-0.456000	0.07043	0.455000	0.32223	CGG		0.657	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		21	21	0	0	0	1	0	21	21					T	1044627	C	T	1044627	3	4	33	1	0	0	0	0	1	0	0	0	37	643	23	1	1137	1	ABCA7	19	1044627	Missense_Mutation	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08		1044627	58084356	64	3200										
ARHGEF18	23370	broad.mit.edu	37	chr19	7516088	7516088	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ggcgtgcaggagtgcattctCctggttacacaacgcataac	11	11	1	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:7516088C>T	ENST00000359920.6	+	6	1480	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.S367F|ARHGEF18_ENST00000319670.9_Silent_p.L251L	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	409	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGTGCATTCTCCTGGTTACAC	0.542																																						ENST00000593531.1																			0											c.(1099-1101)tCc>tTc									121	96	104					19																	7516088		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:7516088C>T	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1227C>T	19.37:g.7516088C>T			Somatic				ARHGEF18_ENST00000319670.9_Silent_p.L251L|ARHGEF18_ENST00000359920.6_Silent_p.L409L	p.S367F			WXS	Illumina GAIIx	Phase_I					9	1100	+								A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.1100C>T	CCDS45946.1																																																																																				0.542	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		16	14	0	0	0	1	0	16	14					T	7516088	C	T	7516088	2	4	33	1	0	0	0	0	0	0	0	1	901	842	30	3		3	ARHGEF18	19	7516088	Silent	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08	6471461	7516088	51612895	65	3201										
MYO1F	4542	broad.mit.edu	37	chr19	8609289	8609289	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	agtgtctggtctgctcccccGcccgtggcgtgcatggtggc	15	14	2	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:8609289G>A	ENST00000338257.8	-	14	1683	c.1416C>T	c.(1414-1416)ggC>ggT	p.G472G	AC092316.2_ENST00000581156.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	472	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						CTGCTCCCCCGCCCGTGGCGT	0.667																																						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.(1414-1416)ggC>ggT		myosin IF							22	29	26					19																	8609289		2088	4209	6297	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8609289G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1416C>T	19.37:g.8609289G>A			Somatic					p.G472G	NM_012335.3	NP_036467.2	WXS	Illumina GAIIx	Phase_I	O00160	MYO1F_HUMAN			14	1683	-			472			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.1416C>T	CCDS42494.1																																																																																				0.667	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			13	19	0	0	0	1	0	13	19					A	8609289	G	A	8609289	2	1	33	1	0	0	0	0	0	0	0	1	10082	1074	38	1		1	MYO1F	19	8609289	Silent	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	1093201	8609289	50519694	66	3202										
ZNF676	163223	broad.mit.edu	37	chr19	22375867	22375867	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ttcatattccagggctctttTccttgctccagaaaaatgat	6	10	2	2			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:22375867T>C	ENST00000397121.2	-	2	398	c.81A>G	c.(79-81)ggA>ggG	p.G27G		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.		G -> E (in dbSNP:rs8104929).		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)				AGGGCTCTTTTCCTTGCTCCA	0.403																																						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.(79-81)ggA>ggG		zinc finger protein 676							99	120	113					19																	22375867		1511	2709	4220	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22375867T>C	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.81A>G	19.37:g.22375867T>C			Somatic					p.G27G	NM_001001411.2	NP_001001411.2	WXS	Illumina GAIIx	Phase_I	Q8N7Q3	ZN676_HUMAN			2	398	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	27		G -> E (in dbSNP:rs8104929).	KRAB.		A8MVX5	Silent	SNP	ENST00000397121.2	37	c.81A>G	CCDS42539.1																																																																																				0.403	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		4	104	0	0	0	1	0	4	104					C	22375867	T	C	22375867	2	2	33	1	0	0	0	0	0	0	0	1	18098	1770	62	4		4	ZNF676	19	22375867	Silent	SNP	T	TCGA-N9-A4PZ-01A-22D-A28R-08	13766578	22375867	36753116	67	3203										
ATP4A	495	broad.mit.edu	37	chr19	36047934	36047934	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	tggaaagttcatggcctctaCgtcgaaggcatagccaggcg	13	10	2	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:36047934C>G	ENST00000262623.3	-	12	1778	c.1750G>C	c.(1750-1752)Gta>Cta	p.V584L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	584					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)	ATGGCCTCTACGTCGAAGGCA	0.592																																						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.(1750-1752)Gta>Cta		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						79	74	76					19																	36047934		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36047934C>G		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.1750G>C	19.37:g.36047934C>G	ENSP00000262623:p.Val584Leu		Somatic					p.V584L	NM_000704.2	NP_000695.2	WXS	Illumina GAIIx	Phase_I	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		12	1778	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		584					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.1750G>C	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657276	0.29425	.	.	ENSG00000105675	ENST00000262623	T	0.78481	-1.18	5.14	1.79	0.24919	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.377447	0.20327	N	0.094509	T	0.57227	0.2039	N	0.13198	0.31	0.32177	N	0.580833	B	0.15930	0.015	B	0.28232	0.087	T	0.57568	-0.7789	10	0.66056	D	0.02	.	1.608	0.02687	0.1704:0.4806:0.1647:0.1843	.	584	P20648	ATP4A_HUMAN	L	584	ENSP00000262623:V584L	ENSP00000262623:V584L	V	-	1	0	ATP4A	40739774	0.767000	0.28508	0.891000	0.34965	0.168000	0.22595	0.052000	0.14163	1.399000	0.46721	0.591000	0.81541	GTA		0.592	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		41	149	0	0	0	1	0	41	149					G	36047934	C	G	36047934	3	3	33	1	0	0	0	0	1	0	0	0	1145	536	19	5	1401	5	ATP4A	19	36047934	Missense_Mutation	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08	13672067	36047934	23081049	68	3204										
PRODH2	58510	broad.mit.edu	37	chr19	36297437	36297437	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	cacctcgtaccagcttcactCcgaaggccaggccggccctg	10	18	1	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:36297437C>A	ENST00000301175.3	-	8	1141	c.1124G>T	c.(1123-1125)gGa>gTa	p.G375V		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	375					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			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)			CAGCTTCACTCCGAAGGCCAG	0.622																																						ENST00000301175.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1123-1125)gGa>gTa		proline dehydrogenase (oxidase) 2							117	106	110					19																	36297437		2203	4300	6503	SO:0001583	missense	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36297437C>A	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.1124G>T	19.37:g.36297437C>A	ENSP00000301175:p.Gly375Val		Somatic					p.G375V	NM_021232.1	NP_067055.1	WXS	Illumina GAIIx	Phase_I	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		8	1141	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		375						Missense_Mutation	SNP	ENST00000301175.3	37	c.1124G>T	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137616	0.56936	.	.	ENSG00000250799	ENST00000301175	T	0.36157	1.27	4.96	4.96	0.65561	Proline dehydrogenase (1);	.	.	.	.	T	0.70360	0.3215	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79553	-0.1756	9	0.87932	D	0	.	15.7333	0.77822	0.0:1.0:0.0:0.0	.	375	Q9UF12	PROD2_HUMAN	V	375	ENSP00000301175:G375V	ENSP00000301175:G375V	G	-	2	0	PRODH2	40989277	0.997000	0.39634	0.833000	0.33012	0.025000	0.11179	4.563000	0.60823	2.567000	0.86603	0.591000	0.81541	GGA		0.622	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		81	223	1	0	7.81431e-29	1	9.25826e-29	81	223					A	36297437	C	A	36297437	3	1	33	1	0	0	0	0	1	0	0	0	12561	855	30	2	502	2	PRODH2	19	36297437	Missense_Mutation	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08	249503	36297437	22831546	69	3205										
FCGBP	8857	broad.mit.edu	37	chr19	40411752	40411752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	gccacgttctcctgcaggacGgcaaaccgatgcaggccagg	13	14	1	0	rs368041735		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:40411752G>A	ENST00000221347.6	-	7	3883	c.3876C>T	c.(3874-3876)gcC>gcT	p.A1292A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1292	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTGCAGGACGGCAAACCGAT	0.632																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(3874-3876)gcC>gcT		Fc fragment of IgG binding protein		G		1,4403	2.1+/-5.4	0,1,2201	52	51	51		3876	-9.1	0	19		51	0,8552		0,0,4276	no	coding-synonymous	FCGBP	NM_003890.2		0,1,6477	AA,AG,GG		0.0,0.0227,0.0077		1292/5406	40411752	1,12955	2202	4276	6478	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40411752G>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.3876C>T	19.37:g.40411752G>A			Somatic					p.A1292A	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)		7	3883	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1292			VWFD 3.		O95784	Silent	SNP	ENST00000221347.6	37	c.3876C>T	CCDS12546.1																																																																																				0.632	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		75	137	0	0	0	1	0	75	137					A	40411752	G	A	40411752	2	1	33	1	0	0	0	0	0	0	0	1	5786	1103	39	1		1	FCGBP	19	40411752	Silent	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	4114315	40411752	18717231	70	3206										
IRF2BP1	26145	broad.mit.edu	37	chr19	46388153	46388153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	agcatcgtggaacatctggcGagccactgccaggacgccgg	14	13	1	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:46388153G>A	ENST00000302165.3	-	1	1223	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	294					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)		AACATCTGGCGAGCCACTGCC	0.592																																						ENST00000302165.3																			0				cervix(1)|kidney(1)|lung(2)	4						c.(880-882)Cgc>Tgc		interferon regulatory factor 2 binding protein 1							39	45	43					19																	46388153		2203	4300	6503	SO:0001583	missense	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46388153G>A	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.880C>T	19.37:g.46388153G>A	ENSP00000307265:p.Arg294Cys		Somatic					p.R294C	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	1223	-		all_neural(266;0.113)|Ovarian(192;0.127)	294					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	ENST00000302165.3	37	c.880C>T	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002226	0.54254	.	.	ENSG00000170604	ENST00000302165	T	0.21361	2.01	4.66	4.66	0.58398	.	0.177690	0.30840	N	0.008767	T	0.17959	0.0431	L	0.40543	1.245	0.44061	D	0.996808	B	0.09022	0.002	B	0.04013	0.001	T	0.03576	-1.1023	10	0.87932	D	0	.	10.186	0.42998	0.0:0.0:0.8015:0.1984	.	294	Q8IU81	I2BP1_HUMAN	C	294	ENSP00000307265:R294C	ENSP00000307265:R294C	R	-	1	0	IRF2BP1	51079993	0.998000	0.40836	0.998000	0.56505	0.922000	0.55478	2.832000	0.48152	2.406000	0.81754	0.555000	0.69702	CGC		0.592	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		5	167	0	0	0	1	0	5	167					A	46388153	G	A	46388153	3	1	33	1	0	0	0	0	1	0	0	0	7838	1058	37	1	878	1	IRF2BP1	19	46388153	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	5976401	46388153	12740830	71	3207										
TRPM4	54795	broad.mit.edu	37	chr19	49671542	49671542	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	tggattgtcactgggggtctGcacacgggcatcggccggca	16	11	2	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:49671542G>T	ENST00000252826.5	+	5	600	c.474G>T	c.(472-474)ctG>ctT	p.L158L	TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Silent_p.L158L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	158					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)		CTGGGGGTCTGCACACGGGCA	0.607																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(472-474)ctG>ctT		transient receptor potential cation channel, subfamily M, member 4							95	95	95					19																	49671542		2203	4300	6503	SO:0001819	synonymous_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.chr19:49671542G>T	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.474G>T	19.37:g.49671542G>T			Somatic				TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Silent_p.L158L	p.L158L	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)	5	600	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	158					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	ENST00000252826.5	37	c.474G>T	CCDS33073.1																																																																																				0.607	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		11	233	1	0	0.0167234	1	0.0173605	11	233					T	49671542	G	T	49671542	2	4	33	1	0	0	0	0	0	0	0	1	16603	1306	46	5		5	TRPM4	19	49671542	Silent	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	3283389	49671542	9457441	72	3208										
TMX4	56255	broad.mit.edu	37	chr20	7963214	7963214	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	ttgaatcatctttttcctccTccgcatcctgcaactgttca	4	14	3	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr20:7963214T>C	ENST00000246024.2	-	8	949	c.734A>G	c.(733-735)gAg>gGg	p.E245G		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	245	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						tttttcctcctcCGCATCCTG	0.423																																						ENST00000246024.2																			0				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						c.(733-735)gAg>gGg		thioredoxin-related transmembrane protein 4							89	70	76					20																	7963214		2203	4300	6503	SO:0001583	missense	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7963214T>C		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"Protein disulfide isomerases"	25237	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 14"		"thioredoxin domain containing 13"	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.734A>G	20.37:g.7963214T>C	ENSP00000246024:p.Glu245Gly		Somatic					p.E245G	NM_021156.2	NP_066979.2	WXS	Illumina GAIIx	Phase_I	Q9H1E5	TMX4_HUMAN			8	949	-			245			Glu-rich.		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	c.734A>G	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096956	0.76870	.	.	ENSG00000125827	ENST00000246024	T	0.11821	2.74	5.84	5.84	0.93424	.	0.408400	0.25604	N	0.029538	T	0.34687	0.0906	M	0.65975	2.015	0.46901	D	0.999244	D	0.89917	1.0	D	0.80764	0.994	T	0.03673	-1.1014	10	0.56958	D	0.05	-10.4814	12.6028	0.56506	0.0:0.0:0.0:1.0	.	245	Q9H1E5	TMX4_HUMAN	G	245	ENSP00000246024:E245G	ENSP00000246024:E245G	E	-	2	0	TMX4	7911214	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.560000	0.53763	2.230000	0.72887	0.455000	0.32223	GAG		0.423	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		9	25	0	0	0	1	0	9	25					C	7963214	T	C	7963214	3	2	33	1	0	0	0	0	1	0	0	0	16284	1551	54	4	319	4	TMX4	20	7963214	Missense_Mutation	SNP	T	TCGA-N9-A4PZ-01A-22D-A28R-08		7963214	55062306	73	3209										
SYCP2	10388	broad.mit.edu	37	chr20	58489063	58489063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	caagcatgccatttacaaggTtgagaaatatcctgcaatcc	7	10	0	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr20:58489063T>C	ENST00000357552.3	-	12	1022	c.797A>G	c.(796-798)aAc>aGc	p.N266S	SYCP2_ENST00000371001.2_Missense_Mutation_p.N266S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	266					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)			ATTTACAAGGTTGAGAAATAT	0.299																																						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.(796-798)aAc>aGc		synaptonemal complex protein 2							57	55	56					20																	58489063		2201	4298	6499	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58489063T>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.797A>G	20.37:g.58489063T>C	ENSP00000350162:p.Asn266Ser		Somatic				SYCP2_ENST00000371001.2_Missense_Mutation_p.N266S	p.N266S			WXS	Illumina GAIIx	Phase_I	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		12	1022	-	all_lung(29;0.00344)		266					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.797A>G	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961124	0.74016	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.04502	3.61;3.61;3.61	4.91	4.91	0.64330	.	0.084737	0.50627	D	0.000116	T	0.21881	0.0527	M	0.81497	2.545	0.39473	D	0.967758	D;D	0.69078	0.997;0.997	P;D	0.68353	0.894;0.957	T	0.02132	-1.1208	10	0.72032	D	0.01	-16.877	14.8546	0.70326	0.0:0.0:0.0:1.0	.	266;266	A2A341;Q9BX26	.;SYCP2_HUMAN	S	266	ENSP00000360040:N266S;ENSP00000350162:N266S;ENSP00000402456:N266S	ENSP00000350162:N266S	N	-	2	0	SYCP2	57922458	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.499000	0.81566	1.968000	0.57251	0.533000	0.62120	AAC		0.299	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		4	17	0	0	0	1	0	4	17					C	58489063	T	C	58489063	3	2	33	1	0	0	0	0	1	0	0	0	15447	1725	60	4	3931	4	SYCP2	20	58489063	Missense_Mutation	SNP	T	TCGA-N9-A4PZ-01A-22D-A28R-08	50525849	58489063	4536457	74	3210										
SLC17A9	63910	broad.mit.edu	37	chr20	61588851	61588851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	cctggggctccatcacggccGtcaccccactgctcgcccac	9	21	2	0	rs201271567	byFrequency	TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr20:61588851G>A	ENST00000370351.4	+	3	447	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	SLC17A9_ENST00000370349.3_Missense_Mutation_p.V100I|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	106					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						CATCACGGCCGTCACCCCACT	0.632													G|||	6	0.00119808	0.0045	0	5008	,	,		23148	0		0	False		,,,				2504	0					ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(298-300)Gtc>Atc		solute carrier family 17 (vesicular nucleotide transporter), member 9		G	ILE/VAL	14,4278		0,14,2132	74	80	78		316	-1	0.1	20		78	0,8498		0,0,4249	yes	missense	SLC17A9	NM_022082.3	29	0,14,6381	AA,AG,GG		0.0,0.3262,0.1095	benign	106/437	61588851	14,12776	2146	4249	6395	SO:0001583	missense	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61588851G>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.316G>A	20.37:g.61588851G>A	ENSP00000359376:p.Val106Ile		Somatic				SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.V106I	p.V100I			WXS	Illumina GAIIx	Phase_I	Q9BYT1	S17A9_HUMAN			4	502	+			106					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	c.298G>A	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	G	0.163	-1.079002	0.01903	0.003262	0.0	ENSG00000101194	ENST00000370351;ENST00000370349;ENST00000411611	T;T;T	0.58358	0.34;0.34;0.34	4.57	-0.993	0.10228	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.436617	0.26642	N	0.023242	T	0.26521	0.0648	N	0.11698	0.16	0.09310	N	0.999996	B;B;B	0.19331	0.035;0.002;0.004	B;B;B	0.16289	0.015;0.005;0.003	T	0.09400	-1.0676	10	0.34782	T	0.22	.	5.8912	0.18915	0.4031:0.2227:0.3742:0.0	.	126;106;100	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	I	106;100;126	ENSP00000359376:V106I;ENSP00000359374:V100I;ENSP00000388215:V126I	ENSP00000359374:V100I	V	+	1	0	SLC17A9	61059296	0.043000	0.20138	0.066000	0.19879	0.009000	0.06853	0.289000	0.18957	-0.116000	0.11893	-0.921000	0.02739	GTC		0.632	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		6	81	0	0	0	1	0	6	81					A	61588851	G	A	61588851	3	1	33	1	0	0	0	0	1	0	0	0	14439	1145	40	1	326	1	SLC17A9	20	61588851	Missense_Mutation	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	3099788	61588851	1436669	75	3211										
ZNF280B	140883	broad.mit.edu	37	chr22	22842866	22842866	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	tgctgtccatagtaaaagtcActaagtaacacaatgggatt	8	7	1	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr22:22842866A>G	ENST00000406426.1	-	4	1600	c.858T>C	c.(856-858)agT>agC	p.S286S	ZNF280B_ENST00000360412.2_Silent_p.S286S			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AGTAAAAGTCACTAAGTAACA	0.383																																						ENST00000360412.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(856-858)agT>agC		zinc finger protein 280B							121	113	115					22																	22842866		2203	4300	6503	SO:0001819	synonymous_variant	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842866A>G	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"zinc finger protein 279", "suppressor of hairy wing homolog 2 (Drosophila)"	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.858T>C	22.37:g.22842866A>G			Somatic				ZNF280B_ENST00000406426.1_Silent_p.S286S	p.S286S	NM_080764.2	NP_542942.1	WXS	Illumina GAIIx	Phase_I	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	1633	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	286						Silent	SNP	ENST00000406426.1	37	c.858T>C	CCDS13799.1																																																																																				0.383	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		4	81	0	0	0	1	0	4	81					G	22842866	A	G	22842866	2	3	33	1	0	0	0	0	0	0	0	1	17830	156	6	4		4	ZNF280B	22	22842866	Silent	SNP	A	TCGA-N9-A4PZ-01A-22D-A28R-08		22842866	28461700	76	3212										
KLHL34	257240	broad.mit.edu	37	chrX	21674488	21674488	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	cccgagatgtacacaacaccGcggtccccgacggcccccgc	10	20	0	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chrX:21674488G>A	ENST00000379499.2	-	1	1960	c.1419C>T	c.(1417-1419)cgC>cgT	p.R473R		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	473						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						ACACAACACCGCGGTCCCCGA	0.701																																						ENST00000379499.2																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(1417-1419)cgC>cgT		kelch-like family member 34							14	10	11					X																	21674488		2179	4251	6430	SO:0001819	synonymous_variant	257240							g.chrX:21674488G>A	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1419C>T	X.37:g.21674488G>A			Somatic					p.R473R	NM_153270.1	NP_695002.1	WXS	Illumina GAIIx	Phase_I	Q8N239	KLH34_HUMAN			1	1960	-			473						Silent	SNP	ENST00000379499.2	37	c.1419C>T	CCDS14199.1																																																																																				0.701	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		13	7	0	0	0	1	0	13	7					A	21674488	G	A	21674488	2	1	33	1	0	0	0	0	0	0	0	1	8396	1074	38	1		1	KLHL34	23	21674488	Silent	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08		21674488	133596072	77	3213										
MAGEB2	4113	broad.mit.edu	37	chrX	30236701	30236701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	tggtttacccagccatcatgCctcgtggtcagaagagtaag	11	10	2	2			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chrX:30236701C>T	ENST00000378988.4	+	2	105	c.4C>T	c.(4-6)Cct>Tct	p.P2S		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	2										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AGCCATCATGCCTCGTGGTCA	0.527																																						ENST00000378988.4																			0				breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						c.(4-6)Cct>Tct		melanoma antigen family B, 2							39	38	39					X																	30236701		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30236701C>T	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 6", "melanoma-associated antigen B2", "cancer/testis antigen family 3, member 2"	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.4C>T	X.37:g.30236701C>T	ENSP00000368273:p.Pro2Ser		Somatic					p.P2S	NM_002364.4	NP_002355.2	WXS	Illumina GAIIx	Phase_I	O15479	MAGB2_HUMAN			2	105	+			2					O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.4C>T	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419732	0.62622	.	.	ENSG00000099399	ENST00000378988	T	0.05447	3.44	3.43	2.52	0.30459	.	0.461000	0.22242	N	0.062661	T	0.18635	0.0447	M	0.72479	2.2	0.27499	N	0.952051	D	0.89917	1.0	D	0.97110	1.0	T	0.01814	-1.1268	10	0.45353	T	0.12	.	6.9911	0.24755	0.2706:0.7294:0.0:0.0	.	2	O15479	MAGB2_HUMAN	S	2	ENSP00000368273:P2S	ENSP00000368273:P2S	P	+	1	0	MAGEB2	30146622	1.000000	0.71417	0.982000	0.44146	0.321000	0.28281	2.786000	0.47790	0.778000	0.33520	0.513000	0.50165	CCT		0.527	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		6	38	0	0	0	1	0	6	38					T	30236701	C	T	30236701	3	4	33	1	0	0	0	0	1	0	0	0	9185	739	26	3	6	3	MAGEB2	23	30236701	Missense_Mutation	SNP	C	TCGA-N9-A4PZ-01A-22D-A28R-08	8562213	30236701	125033859	78	3214										
UBA1	7317	broad.mit.edu	37	chrX	47074220	47074220	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	gagattgtgagccgtgtgtcGaagcgaaagctgggccgcca	16	9	0	2			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chrX:47074220G>A	ENST00000335972.6	+	26	3252	c.3069G>A	c.(3067-3069)tcG>tcA	p.S1023S	UBA1_ENST00000377269.3_Silent_p.S471S|UBA1_ENST00000377351.4_Silent_p.S1023S	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	1023					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCCGTGTGTCGAAGCGAAAGC	0.602																																						ENST00000335972.6																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(3067-3069)tcG>tcA		ubiquitin-like modifier activating enzyme 1							86	62	70					X																	47074220		2203	4300	6503	SO:0001819	synonymous_variant	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47074220G>A	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.3069G>A	X.37:g.47074220G>A			Somatic				UBA1_ENST00000377351.4_Silent_p.S1023S|UBA1_ENST00000377269.3_Silent_p.S471S	p.S1023S	NM_003334.3	NP_003325.2	WXS	Illumina GAIIx	Phase_I	P22314	UBA1_HUMAN			26	3252	+			1023					Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	c.3069G>A	CCDS14275.1																																																																																				0.602	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		7	215	0	0	0	1	0	7	215					A	47074220	G	A	47074220	2	1	33	1	0	0	0	0	0	0	0	1	16842	1045	37	1		1	UBA1	23	47074220	Silent	SNP	G	TCGA-N9-A4PZ-01A-22D-A28R-08	16837519	47074220	108196340	79	3215										
MED12	9968	broad.mit.edu	37	chrX	70360623	70360623	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	cagcaacagcagcaacagcaAcagcagcagcagcagcaaca	9	14	0	0			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chrX:70360623A>G	ENST00000374080.3	+	42	6215	c.6183A>G	c.(6181-6183)caA>caG	p.Q2061Q	MED12_ENST00000333646.6_Silent_p.Q2064Q|MED12_ENST00000374102.1_Silent_p.Q2060Q|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2061	Gln-rich.				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)					agcaacagcaacagcagcagc	0.602			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6190-6192)caA>caG		mediator complex subunit 12							30	34	32					X																	70360623		2127	4118	6245	SO:0001819	synonymous_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360623A>G	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.6183A>G	X.37:g.70360623A>G			Somatic				MED12_ENST00000374080.3_Silent_p.Q2061Q|MED12_ENST00000374102.1_Silent_p.Q2060Q|MED12_ENST00000478889.1_3'UTR	p.Q2064Q	NM_005120.2	NP_005111.2	WXS	Illumina GAIIx	Phase_I	Q93074	MED12_HUMAN			42	6391	+	Renal(35;0.156)		2061			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	c.6192A>G	CCDS43970.1																																																																																				0.602	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		4	110	0	0	0	1	0	4	110					G	70360623	A	G	70360623	2	3	33	1	0	0	0	0	0	0	0	1	9437	40	2	4		4	MED12	23	70360623	Silent	SNP	A	TCGA-N9-A4PZ-01A-22D-A28R-08	23286403	70360623	84909937	80	3216										
ZNF711	7552	broad.mit.edu	37	chrX	84526455	84526455	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	tcgtccttctgagctcaaaaAgcatagtgatatccataagg	8	9	2	2			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chrX:84526455A>T	ENST00000373165.3	+	9	2213	c.1907A>T	c.(1906-1908)aAg>aTg	p.K636M	ZNF711_ENST00000276123.3_Missense_Mutation_p.K636M|ZNF711_ENST00000395402.1_Missense_Mutation_p.K644M|ZNF711_ENST00000542798.1_Missense_Mutation_p.K478M|ZNF711_ENST00000360700.4_Missense_Mutation_p.K682M	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	636					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GAGCTCAAAAAGCATAGTGAT	0.403																																						ENST00000360700.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						c.(2044-2046)aAg>aTg		zinc finger protein 711							78	62	68					X																	84526455		2203	4300	6503	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84526455A>T	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1907A>T	X.37:g.84526455A>T	ENSP00000362260:p.Lys636Met		Somatic				ZNF711_ENST00000373165.3_Missense_Mutation_p.K636M|ZNF711_ENST00000276123.3_Missense_Mutation_p.K636M|ZNF711_ENST00000395402.1_Missense_Mutation_p.K644M|ZNF711_ENST00000542798.1_Missense_Mutation_p.K478M	p.K682M			WXS	Illumina GAIIx	Phase_I	Q9Y462	ZN711_HUMAN			10	2931	+			636	RCK -> GCT (in Ref. 4; CAA39837).				B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.2045A>T	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.851980	0.51270	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	5.5	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.45606	D	0.000342	T	0.29256	0.0728	L	0.33093	0.98	0.46654	D	0.999148	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.979	T	0.01488	-1.1342	10	0.72032	D	0.01	-11.9286	11.0095	0.47654	0.8584:0.0:0.0:0.1416	.	682;636	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	M	644;636;636;682;478	ENSP00000378798:K644M;ENSP00000362260:K636M;ENSP00000276123:K636M;ENSP00000353922:K682M;ENSP00000442071:K478M	ENSP00000276123:K636M	K	+	2	0	ZNF711	84413111	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.339000	0.96797	0.696000	0.31696	0.417000	0.27973	AAG		0.403	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		7	45	0	0	0	1	0	7	45					T	84526455	A	T	84526455	3	4	33	1	0	0	0	0	1	0	0	0	18131	72	3	4	1933	4	ZNF711	23	84526455	Missense_Mutation	SNP	A	TCGA-N9-A4PZ-01A-22D-A28R-08	14165832	84526455	70744105	81	3217										
F9	2158	broad.mit.edu	37	chrX	138642950	138642950	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	2	1	0.414857268819575	0.991047919957873	0.262336214106496	1	1	0	tgtggaggctctatcgttaaTgaaaaatggattgtaactgc	11	5	1	1			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chrX:138642950T>G	ENST00000218099.2	+	7	781	c.774T>G	c.(772-774)aaT>aaG	p.N258K	F9_ENST00000394090.2_Missense_Mutation_p.N220K	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	258	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	CTATCGTTAATGAAAAATGGA	0.353																																						ENST00000218099.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CM940576	F9	M		c.(772-774)aaT>aaG		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						232	208	217					X																	138642950		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138642950T>G	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.774T>G	X.37:g.138642950T>G	ENSP00000218099:p.Asn258Lys		Somatic				F9_ENST00000394090.2_Missense_Mutation_p.N220K	p.N258K	NM_000133.3	NP_000124.1	WXS	Illumina GAIIx	Phase_I	P00740	FA9_HUMAN			7	781	+	Acute lymphoblastic leukemia(192;0.000127)		258			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.774T>G	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180412	0.57800	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.93426	-3.22;-3.22	5.84	4.69	0.59074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.042501	0.85682	D	0.000000	D	0.94719	0.8296	L	0.54965	1.715	0.43603	D	0.995968	D;P	0.89917	1.0;0.928	D;P	0.85130	0.997;0.618	D	0.94391	0.7614	10	0.72032	D	0.01	.	8.3484	0.32288	0.0:0.0923:0.0:0.9077	.	220;258	Q5FBE1;P00740	.;FA9_HUMAN	K	258;220	ENSP00000218099:N258K;ENSP00000377650:N220K	ENSP00000218099:N258K	N	+	3	2	F9	138470616	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	0.666000	0.25097	1.962000	0.57031	0.441000	0.28932	AAT		0.353	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			4	108	0	0	0	1	0	4	108					G	138642950	T	G	138642950	3	3	33	1	0	0	0	0	1	0	0	0	5356	1461	51	4	800	4	F9	23	138642950	Missense_Mutation	SNP	T	TCGA-N9-A4PZ-01A-22D-A28R-08	54116495	138642950	16627610	82	3218										
AMY2A	279	broad.mit.edu	37	chr1	104160643	104160643	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ttggtgggaaagataccaacCagttagctataaattatgca	9	6	0	1			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr1:104160643C>A	ENST00000414303.2	+	2	300	c.236C>A	c.(235-237)cCa>cAa	p.P79Q		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	79					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	AGATACCAACCAGTTAGCTAT	0.353																																						ENST00000414303.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(235-237)cCa>cAa		amylase, alpha 2A (pancreatic)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)						156	145	149					1																	104160643		2201	4278	6479	SO:0001583	missense	279				carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	g.chr1:104160643C>A	BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"amylase, alpha 2A; pancreatic"	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.236C>A	1.37:g.104160643C>A	ENSP00000397582:p.Pro79Gln		Somatic					p.P79Q	NM_000699.2	NP_000690.1	WXS	Illumina GAIIx	Phase_I	P04746	AMYP_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	2	300	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	79					B9EJG1|Q9UBH3	Missense_Mutation	SNP	ENST00000414303.2	37	c.236C>A	CCDS783.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.932390	0.73442	.	.	ENSG00000243480	ENST00000414303;ENST00000393932	D	0.98264	-4.83	3.47	3.47	0.39725	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	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98059	1.0392	10	0.87932	D	0	.	15.0729	0.72053	0.0:1.0:0.0:0.0	.	79;79	B9EJG1;P04746	.;AMYP_HUMAN	Q	79	ENSP00000397582:P79Q	ENSP00000377509:P79Q	P	+	2	0	AMY2A	103962166	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	7.359000	0.79477	1.927000	0.55829	0.455000	0.32223	CCA		0.353	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	NM_000699		23	230	1	0	2.21704e-12	1	2.45218e-12	23	230					A	104160643	C	A	104160643	3	1	34	1	0	0	0	0	1	0	0	0	594	594	21	5	242	5	AMY2A	1	104160643	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08		104160643	145089978	1	3219										
PI4KB	5298	broad.mit.edu	37	chr1	151271532	151271532	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ttgatccaaaggggcactcgCtcctgttcccaaatggactg	10	12	0	1	rs587716849		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr1:151271532C>A	ENST00000368873.1	-	9	1935	c.1767G>T	c.(1765-1767)gaG>gaT	p.E589D	PI4KB_ENST00000368872.1_Missense_Mutation_p.E574D|PI4KB_ENST00000271657.5_Missense_Mutation_p.E601D|PI4KB_ENST00000368874.4_Missense_Mutation_p.E574D|PI4KB_ENST00000368875.2_Missense_Mutation_p.E601D|RN7SL444P_ENST00000578948.1_RNA|PI4KB_ENST00000529142.1_Missense_Mutation_p.E257D			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	589	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269, ECO:0000305}.				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)			GGGGCACTCGCTCCTGTTCCC	0.473																																					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.(1801-1803)gaG>gaT		phosphatidylinositol 4-kinase, catalytic, beta							89	82	84					1																	151271532		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.chr1:151271532C>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.1767G>T	1.37:g.151271532C>A	ENSP00000357867:p.Glu589Asp		Somatic				PI4KB_ENST00000368872.1_Missense_Mutation_p.E574D|PI4KB_ENST00000368873.1_Missense_Mutation_p.E589D|PI4KB_ENST00000368874.4_Missense_Mutation_p.E574D|PI4KB_ENST00000529142.1_Missense_Mutation_p.E257D|PI4KB_ENST00000271657.5_Missense_Mutation_p.E601D	p.E601D	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)		10	2383	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		589			PI3K/PI4K.		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.1803G>T		.	.	.	.	.	.	.	.	.	.	C	24.2	4.500803	0.85176	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872	T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.98	2.77	0.32553	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.047466	0.85682	D	0.000000	T	0.82006	0.4943	M	0.77820	2.39	0.80722	D	1	P;D;D	0.89917	0.947;1.0;1.0	P;D;D	0.85130	0.823;0.997;0.997	T	0.82904	-0.0226	10	0.66056	D	0.02	-19.7071	9.4239	0.38567	0.0:0.7384:0.0:0.2616	.	589;574;257	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	D	574;601;601;589;257;574	ENSP00000357868:E574D;ENSP00000357869:E601D;ENSP00000271657:E601D;ENSP00000357867:E589D;ENSP00000433149:E257D;ENSP00000357866:E574D	ENSP00000271657:E601D	E	-	3	2	PI4KB	149538156	0.993000	0.37304	1.000000	0.80357	0.999000	0.98932	0.436000	0.21526	0.693000	0.31634	0.650000	0.86243	GAG		0.473	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		31	87	1	0	1.88708e-17	1	2.22189e-17	31	87					A	151271532	C	A	151271532	3	1	34	1	0	0	0	0	1	0	0	0	11883	796	28	5	699	5	PI4KB	1	151271532	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08	47110889	151271532	97979089	2	3220										
TOR3A	64222	broad.mit.edu	37	chr1	179064258	179064258	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	aagagacactggatgaaataGcccagatgatggtgtatgtc	12	6	0	4	rs78309022		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr1:179064258G>T	ENST00000367627.3	+	6	1851	c.1099G>T	c.(1099-1101)Gcc>Tcc	p.A367S	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	367					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						GGATGAAATAGCCCAGATGAT	0.512																																						ENST00000367627.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(1099-1101)Gcc>Tcc		torsin family 3, member A							176	170	172					1																	179064258		2203	4300	6503	SO:0001583	missense	64222				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding	g.chr1:179064258G>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.1099G>T	1.37:g.179064258G>T	ENSP00000356599:p.Ala367Ser		Somatic				TOR3A_ENST00000352445.6_Intron	p.A367S	NM_022371.3	NP_071766.2	WXS	Illumina GAIIx	Phase_I	Q9H497	TOR3A_HUMAN			6	1851	+			367					B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	c.1099G>T	CCDS1329.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092262	0.76756	.	.	ENSG00000186283	ENST00000367627	T	0.65364	-0.15	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.83834	0.5340	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85606	0.1255	10	0.59425	D	0.04	-27.0947	19.2867	0.94077	0.0:0.0:1.0:0.0	.	367	Q9H497	TOR3A_HUMAN	S	367	ENSP00000356599:A367S	ENSP00000356599:A367S	A	+	1	0	TOR3A	177330881	1.000000	0.71417	0.815000	0.32552	0.071000	0.16799	9.476000	0.97823	2.793000	0.96121	0.655000	0.94253	GCC		0.512	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		5	231	1	0	1.23904e-05	1	1.29214e-05	5	231					T	179064258	G	T	179064258	3	4	34	1	0	0	0	0	1	0	0	0	16391	971	34	5	1121	5	TOR3A	1	179064258	Missense_Mutation	SNP	G	TCGA-N9-A4Q1-01A-11D-A28R-08	27792726	179064258	70186363	3	3221										
OR2M2	391194	broad.mit.edu	37	chr1	248344089	248344089	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ggcccacatctgatcactccCcaacgcaggacaagatggtg	10	14	2	2			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr1:248344089C>G	ENST00000359682.2	+	1	802	c.802C>G	c.(802-804)Cca>Gca	p.P268A		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	268						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)			TGATCACTCCCCAACGCAGGA	0.502																																						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.(802-804)Cca>Gca		olfactory receptor, family 2, subfamily M, member 2							216	192	200					1																	248344089		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344089C>G	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.802C>G	1.37:g.248344089C>G	ENSP00000352710:p.Pro268Ala		Somatic					p.P268A	NM_001004688.1	NP_001004688.1	WXS	Illumina GAIIx	Phase_I	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	802	+	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)		268					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.802C>G	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	3.268	-0.149688	0.06585	.	.	ENSG00000198601	ENST00000359682	T	0.00193	8.58	2.03	-4.06	0.03986	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.35793	1.09	0.09310	N	1	B	0.22541	0.071	B	0.33690	0.168	T	0.27606	-1.0069	9	0.49607	T	0.09	.	1.073	0.01626	0.1348:0.239:0.2703:0.3559	.	268	Q96R28	OR2M2_HUMAN	A	268	ENSP00000352710:P268A	ENSP00000352710:P268A	P	+	1	0	OR2M2	246410712	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.722000	0.00102	-1.415000	0.02022	-1.573000	0.00871	CCA		0.502	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		101	138	0	0	0	1	0	101	138					G	248344089	C	G	248344089	3	3	34	1	0	0	0	0	1	0	0	0	11019	623	22	5	804	5	OR2M2	1	248344089	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08	69279831	248344089	906532	4	3222										
OR2T4	127074	broad.mit.edu	37	chr1	248525481	248525481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	catcaccatgaccttcccctTccgtggatcccgggagattc	8	16	1	2			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr1:248525481T>C	ENST00000366475.1	+	1	599	c.599T>C	c.(598-600)tTc>tCc	p.F200S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	200						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)			ACCTTCCCCTTCCGTGGATCC	0.493																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(598-600)tTc>tCc		olfactory receptor, family 2, subfamily T, member 4							216	197	203					1																	248525481		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525481T>C	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.599T>C	1.37:g.248525481T>C	ENSP00000355431:p.Phe200Ser		Somatic					p.F200S	NM_001004696.1	NP_001004696.1	WXS	Illumina GAIIx	Phase_I	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	599	+	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)		200					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.599T>C	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.952939	0.34471	.	.	ENSG00000196944	ENST00000366475	T	0.00202	8.56	3.61	1.0	0.19881	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000170	T	0.00580	0.0019	M	0.93241	3.395	0.26258	N	0.978618	D	0.71674	0.998	D	0.74674	0.984	T	0.40776	-0.9545	10	0.72032	D	0.01	.	5.0722	0.14613	0.1591:0.0942:0.0:0.7467	.	200	Q8NH00	OR2T4_HUMAN	S	200	ENSP00000355431:F200S	ENSP00000355431:F200S	F	+	2	0	OR2T4	246592104	0.003000	0.15002	0.175000	0.22980	0.315000	0.28087	-0.047000	0.11963	0.291000	0.22468	0.477000	0.44152	TTC		0.493	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		65	183	0	0	0	1	0	65	183					C	248525481	T	C	248525481	3	2	34	1	0	0	0	0	1	0	0	0	11036	1783	62	4	601	4	OR2T4	1	248525481	Missense_Mutation	SNP	T	TCGA-N9-A4Q1-01A-11D-A28R-08	181392	248525481	725140	5	3223										
NEB	4703	broad.mit.edu	37	chr2	152432754	152432754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	aaggttcaccacaggcgtccGatagacactgtcacaaaaga	9	11	2	2	rs368167657		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr2:152432754G>A	ENST00000172853.10	-	78	11863	c.11716C>T	c.(11716-11718)Cgg>Tgg	p.R3906W	NEB_ENST00000604864.1_Missense_Mutation_p.R5607W|NEB_ENST00000397345.3_Missense_Mutation_p.R5607W|NEB_ENST00000427231.2_Missense_Mutation_p.R5607W|NEB_ENST00000409198.1_Missense_Mutation_p.R3906W|NEB_ENST00000603639.1_Missense_Mutation_p.R5607W			P20929	NEBU_HUMAN	nebulin	3906					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)		ACAGGCGTCCGATAGACACTG	0.448																																						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.(16819-16821)Cgg>Tgg		nebulin		G	TRP/ARG,TRP/ARG,TRP/ARG	0,3788		0,0,1894	75	78	77		16819,16819,11716	4	1	2		77	1,8241		0,1,4120	no	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	101,101,101	0,1,6014	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging,probably-damaging,probably-damaging	5607/8526,5607/8526,3906/6670	152432754	1,12029	1894	4121	6015	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.chr2:152432754G>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.11716C>T	2.37:g.152432754G>A	ENSP00000172853:p.Arg3906Trp		Somatic				NEB_ENST00000409198.1_Missense_Mutation_p.R3906W|NEB_ENST00000172853.10_Missense_Mutation_p.R3906W|NEB_ENST00000427231.2_Missense_Mutation_p.R5607W|NEB_ENST00000603639.1_Missense_Mutation_p.R5607W|NEB_ENST00000604864.1_Missense_Mutation_p.R5607W	p.R5607W	NM_001164508.1	NP_001157980.1	WXS	Illumina GAIIx	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	106	17021	-			5618					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.16819C>T		.	.	.	.	.	.	.	.	.	.	G	22.1	4.250405	0.80024	0.0	1.21E-4	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000413693;ENST00000172853	T;T;T;T;T	0.19532	2.49;2.66;2.66;2.14;2.48	5.9	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.58092	-0.7697	10	0.87932	D	0	.	15.3625	0.74492	0.0:0.0:0.7461:0.2539	.	3906;337	P20929;Q14215	NEBU_HUMAN;.	W	3906;5607;5607;337;3906	ENSP00000386259:R3906W;ENSP00000380505:R5607W;ENSP00000416578:R5607W;ENSP00000410961:R337W;ENSP00000172853:R3906W	ENSP00000172853:R3906W	R	-	1	2	NEB	152141000	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	5.349000	0.66010	1.469000	0.48083	0.563000	0.77884	CGG		0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		51	25	0	0	0	1	0	51	25					A	152432754	G	A	152432754	3	1	34	1	0	0	0	0	1	0	0	0	10311	1057	37	1	9175	1	NEB	2	152432754	Missense_Mutation	SNP	G	TCGA-N9-A4Q1-01A-11D-A28R-08		152432754	90766619	6	3224										
FAP	2191	broad.mit.edu	37	chr2	163099498	163099498	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ctccaaatacgatttttaccCaagtctacataaaataaaga	3	9	1	1			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr2:163099498C>G	ENST00000188790.4	-	2	218	c.11G>C	c.(10-12)tGg>tCg	p.W4S	FAP_ENST00000443424.1_Missense_Mutation_p.W4S|FAP_ENST00000493182.1_5'Flank	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GATTTTTACCCAAGTCTACAT	0.388																																						ENST00000188790.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(10-12)tGg>tCg		fibroblast activation protein, alpha							83	71	75					2																	163099498		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163099498C>G	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.11G>C	2.37:g.163099498C>G	ENSP00000188790:p.Trp4Ser		Somatic				FAP_ENST00000443424.1_Missense_Mutation_p.W4S	p.W4S	NM_004460.2	NP_004451.2	WXS	Illumina GAIIx	Phase_I	Q12884	SEPR_HUMAN			2	218	-			4						Missense_Mutation	SNP	ENST00000188790.4	37	c.11G>C	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	0.105	-1.146652	0.01714	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.18810	2.19;2.28	5.92	5.04	0.67666	.	0.676503	0.14742	N	0.301087	T	0.20981	0.0505	L	0.57536	1.79	0.51233	D	0.999911	B;B;B	0.29253	0.239;0.239;0.239	B;B;B	0.24006	0.05;0.05;0.05	T	0.02471	-1.1154	10	0.33141	T	0.24	-5.9336	9.9339	0.41539	0.0:0.7886:0.1394:0.072	.	4;4;4	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	S	4	ENSP00000188790:W4S;ENSP00000411391:W4S	ENSP00000188790:W4S	W	-	2	0	FAP	162807744	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	3.194000	0.51005	1.514000	0.48869	-0.172000	0.13284	TGG		0.388	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			4	11	0	0	0	1	0	4	11					G	163099498	C	G	163099498	3	3	34	1	0	0	0	0	1	0	0	0	5681	595	21	5	2371	5	FAP	2	163099498	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08	10666744	163099498	80099875	7	3225										
NCKAP1	10787	broad.mit.edu	37	chr2	183866921	183866921	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ttgccttcctttcttcaattCgagacagcagtatcattagt	6	10	3	1			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr2:183866921C>G	ENST00000361354.4	-	5	818	c.446G>C	c.(445-447)cGa>cCa	p.R149P	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R155P	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	149					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.R155Q(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)			TTCTTCAATTCGAGACAGCAG	0.313																																						ENST00000360982.2																			1	Substitution - Missense(1)	p.R155Q(1)	large_intestine(1)	breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(463-465)cGa>cCa		NCK-associated protein 1							115	116	116					2																	183866921		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183866921C>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.446G>C	2.37:g.183866921C>G	ENSP00000355348:p.Arg149Pro		Somatic				NCKAP1_ENST00000361354.3_Missense_Mutation_p.R149P	p.R155P	NM_205842.1	NP_995314.1	WXS	Illumina GAIIx	Phase_I	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		6	1222	-			149					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.464G>C	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348601	0.82132	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.39787	1.06;1.06	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.69931	0.3166	M	0.87547	2.89	0.80722	D	1	D;D	0.65815	0.989;0.995	D;P	0.66084	0.941;0.902	T	0.74785	-0.3547	10	0.72032	D	0.01	-7.3816	19.6582	0.95853	0.0:1.0:0.0:0.0	.	149;155	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	P	149;155	ENSP00000355348:R149P;ENSP00000354251:R155P	ENSP00000354251:R155P	R	-	2	0	NCKAP1	183575166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.678000	0.84035	2.725000	0.93324	0.655000	0.94253	CGA		0.313	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		5	35	0	0	0	1	0	5	35					G	183866921	C	G	183866921	3	3	34	1	0	0	0	0	1	0	0	0	10230	884	31	2	3048	2	NCKAP1	2	183866921	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08	20767423	183866921	59332452	8	3226										
OR5H2	79310	broad.mit.edu	37	chr3	98002239	98002239	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ttcatgaagtccttatattcAgattaaccttctgcaattct	4	9	4	2			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:98002239A>C	ENST00000355273.2	+	1	508	c.508A>C	c.(508-510)Aga>Cga	p.R170R	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	170						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(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CCTTATATTCAGATTAACCTT	0.328																																						ENST00000355273.2																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(508-510)Aga>Cga		olfactory receptor, family 5, subfamily H, member 2							96	93	94					3																	98002239		2203	4300	6503	SO:0001819	synonymous_variant	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98002239A>C		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"GPCR / Class A : Olfactory receptors"	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.508A>C	3.37:g.98002239A>C			Somatic				RP11-325B23.2_ENST00000508616.1_lincRNA	p.R170R	NM_001005482.1	NP_001005482.1	WXS	Illumina GAIIx	Phase_I	Q8NGV7	OR5H2_HUMAN			1	508	+			170					Q6IF87	Silent	SNP	ENST00000355273.2	37	c.508A>C	CCDS33801.1																																																																																				0.328	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			25	60	0	0	0	1	0	25	60					C	98002239	A	C	98002239	2	2	34	1	0	0	0	0	0	0	0	1	11171	180	7	4		4	OR5H2	3	98002239	Silent	SNP	A	TCGA-N9-A4Q1-01A-11D-A28R-08		98002239	100020191	9	3227										
ALCAM	214	broad.mit.edu	37	chr3	105260569	105260570	+	Frame_Shift_Ins	INS	-	-	A													0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	acaagtgttccctgatagacINSaaaaaaagcatgattgcttc							TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:105260569_105260570insA	ENST00000306107.5	+	8	1451_1452	c.951_952insA	c.(952-954)aaafs	p.K318fs	ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Frame_Shift_Ins_p.K267fs|ALCAM_ENST00000472644.2_Frame_Shift_Ins_p.K318fs|ALCAM_ENST00000389927.4_Intron	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	318	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						CCCTGATAGACAAAAAAAGCAT	0.426																																						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.(949-954)gaaaaafs		activated leukocyte cell adhesion molecule																																				SO:0001589	frameshift_variant	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105260569_105260570insA	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.958dupA	3.37:g.105260576_105260576dupA	ENSP00000305988:p.Lys318fs		Somatic				ALCAM_ENST00000472644.2_Frame_Shift_Ins_p.EK317fs|ALCAM_ENST00000486979.2_Frame_Shift_Ins_p.EK266fs|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000481337.1_3'UTR	p.EK317fs	NM_001627.3	NP_001618.2	WXS	Illumina GAIIx	Phase_I	Q13740	CD166_HUMAN			8	1451_1452	+			317			Ig-like C2-type 1.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Frame_Shift_Ins	INS	ENST00000306107.5	37	c.951_952insA	CCDS33810.1																																																																																				0.426	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		30	40						30	40	---	---	---	---	A	105260570	-	A	105260569	7	5	34	1	0	1	1	0	0	0	0	0	487	477	17	0	981	0	ALCAM	3	105260569	Frame_Shift_Ins	INS	-	TCGA-N9-A4Q1-01A-11D-A28R-08	7258330	105260569	92761861	10	3228										
STXBP5L	9515	broad.mit.edu	37	chr3	121100275	121100275	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	tgactctaccatctctccttGtctgttcgttggaaccagtc	7	13	3	1			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:121100275G>T	ENST00000273666.6	+	23	2826	c.2555G>T	c.(2554-2556)tGt>tTt	p.C852F	STXBP5L_ENST00000471454.1_Missense_Mutation_p.C828F|STXBP5L_ENST00000492541.1_Missense_Mutation_p.C852F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.C828F|STXBP5L_ENST00000497029.1_Missense_Mutation_p.C826F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	852					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATCTCTCCTTGTCTGTTCGTT	0.408																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2554-2556)tGt>tTt		syntaxin binding protein 5-like							188	177	181					3																	121100275		1897	4124	6021	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121100275G>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2555G>T	3.37:g.121100275G>T	ENSP00000273666:p.Cys852Phe		Somatic				STXBP5L_ENST00000492541.1_Missense_Mutation_p.C852F|STXBP5L_ENST00000497029.1_Missense_Mutation_p.C826F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.C828F|STXBP5L_ENST00000471454.1_Missense_Mutation_p.C828F	p.C852F	NM_014980.2	NP_055795.1	WXS	Illumina GAIIx	Phase_I	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	23	2826	+			852					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2555G>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647006	0.87958	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.1	5.1	0.69264	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69061	0.3069	M	0.82923	2.615	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.73911	-0.3833	10	0.87932	D	0	-14.623	18.7084	0.91646	0.0:0.0:1.0:0.0	.	828;852	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	F	852;828;828;826;852;795	ENSP00000273666:C852F;ENSP00000420019:C828F;ENSP00000419627:C828F;ENSP00000420287:C826F;ENSP00000420666:C852F;ENSP00000420167:C795F	ENSP00000273666:C852F	C	+	2	0	STXBP5L	122582965	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.369000	0.97156	2.660000	0.90430	0.650000	0.86243	TGT		0.408	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			55	83	1	0	2.30037e-20	1	2.7529e-20	55	83					T	121100275	G	T	121100275	3	4	34	1	0	0	0	0	1	0	0	0	15372	1377	48	5	2641	5	STXBP5L	3	121100275	Missense_Mutation	SNP	G	TCGA-N9-A4Q1-01A-11D-A28R-08	15839706	121100275	76922155	11	3229										
NCK1	4690	broad.mit.edu	37	chr3	136667191	136667191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ctgtctactgcattgggcagCgtaaattcagcaccatggaa	10	10	2	0			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:136667191C>T	ENST00000481752.1	+	4	1194	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	NCK1_ENST00000288986.2_Missense_Mutation_p.R344C|IL20RB_ENST00000484501.1_Intron|NCK1_ENST00000469404.1_Missense_Mutation_p.R280C			P16333	NCK1_HUMAN	NCK adaptor protein 1	344	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|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 translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CATTGGGCAGCGTAAATTCAG	0.348																																						ENST00000469404.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(838-840)Cgt>Tgt		NCK adaptor protein 1							97	93	94					3																	136667191		2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136667191C>T	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"SH2 domain containing"	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.1030C>T	3.37:g.136667191C>T	ENSP00000417273:p.Arg344Cys		Somatic				NCK1_ENST00000481752.1_Missense_Mutation_p.R344C|IL20RB_ENST00000484501.1_Intron|NCK1_ENST00000288986.2_Missense_Mutation_p.R344C	p.R280C	NM_001190796.1	NP_001177725.1	WXS	Illumina GAIIx	Phase_I	P16333	NCK1_HUMAN			3	929	+			344					B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.838C>T	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198929	0.79015	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000469404;ENST00000467911	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.81	4.93	0.64822	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.73621	0.3610	M	0.87097	2.86	0.80722	D	1	D;P	0.53151	0.958;0.939	P;P	0.50537	0.635;0.643	T	0.79279	-0.1869	10	0.87932	D	0	.	13.1657	0.59569	0.0:0.9208:0.0:0.0792	.	280;344	B7Z751;P16333	.;NCK1_HUMAN	C	344;344;280;147	ENSP00000288986:R344C;ENSP00000417273:R344C;ENSP00000419631:R280C;ENSP00000418060:R147C	ENSP00000288986:R344C	R	+	1	0	NCK1	138149881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.752000	0.68728	2.756000	0.94617	0.655000	0.94253	CGT		0.348	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		19	32	0	0	0	1	0	19	32					T	136667191	C	T	136667191	3	4	34	1	0	0	0	0	1	0	0	0	10228	768	27	1	1040	1	NCK1	3	136667191	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08	15566916	136667191	61355239	12	3230										
CP	1356	broad.mit.edu	37	chr3	148916171	148916171	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	tacctgtctcccatttgcatGtaaacttcctttcttgcata	4	12	2	0			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:148916171G>T	ENST00000264613.6	-	9	1958	c.1696C>A	c.(1696-1698)Cat>Aat	p.H566N	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	566	F5/8 type A 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCATTTGCATGTAAACTTCCT	0.353																																						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.(1696-1698)Cat>Aat		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						91	85	87					3																	148916171		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148916171G>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.1696C>A	3.37:g.148916171G>T	ENSP00000264613:p.His566Asn		Somatic				CP_ENST00000462336.1_5'UTR	p.H566N	NM_000096.3	NP_000087.1	WXS	Illumina GAIIx	Phase_I	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		9	1958	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	566			F5/8 type A 2.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.1696C>A	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	G	3.504	-0.101108	0.06967	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.98531	-4.98;-4.98	5.46	2.45	0.29901	Cupredoxin (2);	0.748493	0.12540	N	0.459977	D	0.89515	0.6737	N	0.00538	-1.39	0.09310	N	1	B;B;B;B	0.16396	0.004;0.008;0.004;0.017	B;B;B;B	0.17979	0.02;0.02;0.02;0.02	T	0.82076	-0.0636	10	0.11794	T	0.64	-2.6697	11.3177	0.49401	0.0:0.2485:0.6238:0.1278	.	566;566;566;566	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	N	566;349	ENSP00000264613:H566N;ENSP00000420545:H349N	ENSP00000264613:H566N	H	-	1	0	CP	150398861	0.000000	0.05858	0.953000	0.39169	0.996000	0.88848	0.058000	0.14301	1.252000	0.44001	0.650000	0.86243	CAT		0.353	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		6	48	1	0	2.0095e-06	1	2.12599e-06	6	48					T	148916171	G	T	148916171	3	4	34	1	0	0	0	0	1	0	0	0	3789	1377	48	5	1545	5	CP	3	148916171	Missense_Mutation	SNP	G	TCGA-N9-A4Q1-01A-11D-A28R-08	12248980	148916171	49106259	13	3231										
SI	6476	broad.mit.edu	37	chr3	164741472	164741472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	tttagttggaggtcagctgtTatacccatggatgaatagcg	12	6	1	1			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:164741472T>C	ENST00000264382.3	-	26	3047	c.2985A>G	c.(2983-2985)atA>atG	p.I995M		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	995	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			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)	GGTCAGCTGTTATACCCATGG	0.403										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.(2983-2985)atA>atG		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						135	128	131					3																	164741472		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164741472T>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.2985A>G	3.37:g.164741472T>C	ENSP00000264382:p.Ile995Met	HNSCC(35;0.089)	Somatic					p.I995M	NM_001041.3	NP_001032.2	WXS	Illumina GAIIx	Phase_I	P14410	SUIS_HUMAN			26	3047	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	995			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2985A>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	7.993	0.753807	0.15778	.	.	ENSG00000090402	ENST00000264382	D	0.85702	-2.02	5.53	-1.66	0.08265	Glycoside hydrolase-type carbohydrate-binding (1);	0.815275	0.11189	N	0.590110	T	0.74230	0.3689	L	0.42581	1.335	0.09310	N	1	B	0.18863	0.031	B	0.19391	0.025	T	0.59096	-0.7518	10	0.35671	T	0.21	.	2.5407	0.04725	0.1146:0.1306:0.3174:0.4374	.	995	P14410	SUIS_HUMAN	M	995	ENSP00000264382:I995M	ENSP00000264382:I995M	I	-	3	3	SI	166224166	0.363000	0.24989	0.104000	0.21259	0.033000	0.12548	-0.610000	0.05629	-0.075000	0.12798	-0.438000	0.05819	ATA		0.403	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		7	61	0	0	0	1	0	7	61					C	164741472	T	C	164741472	3	2	34	1	0	0	0	0	1	0	0	0	14312	1744	61	4	2590	4	SI	3	164741472	Missense_Mutation	SNP	T	TCGA-N9-A4Q1-01A-11D-A28R-08	15825301	164741472	33280958	14	3232										
MCF2L2	23101	broad.mit.edu	37	chr3	183041097	183041097	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ccgggtcagttggcttttgtCgatgtagccgtgaaggtcag	15	8	2	1			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:183041097C>A	ENST00000328913.3	-	6	826	c.529G>T	c.(529-531)Gac>Tac	p.D177Y	MCF2L2_ENST00000473233.1_Missense_Mutation_p.D177Y|MCF2L2_ENST00000447025.2_Missense_Mutation_p.D177Y|MCF2L2_ENST00000414362.2_Missense_Mutation_p.D177Y	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	177	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)			TGGCTTTTGTCGATGTAGCCG	0.423																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(529-531)Gac>Tac		MCF.2 cell line derived transforming sequence-like 2							113	115	114					3																	183041097		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183041097C>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.529G>T	3.37:g.183041097C>A	ENSP00000328118:p.Asp177Tyr		Somatic				MCF2L2_ENST00000414362.2_Missense_Mutation_p.D177Y|MCF2L2_ENST00000473233.1_Missense_Mutation_p.D177Y|MCF2L2_ENST00000447025.2_Missense_Mutation_p.D177Y	p.D177Y	NM_015078.2	NP_055893.2	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)		6	826	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		177			CRAL-TRIO.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.529G>T	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797290	0.90538	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.56	5.56	0.83823	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.052694	0.64402	D	0.000001	D	0.82912	0.5140	M	0.89353	3.025	0.54753	D	0.999982	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.992;0.995;0.982	D	0.85956	0.1467	10	0.87932	D	0	.	18.2738	0.90077	0.0:1.0:0.0:0.0	.	177;177;177	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	Y	177	ENSP00000328118:D177Y;ENSP00000420070:D177Y;ENSP00000388190:D177Y;ENSP00000414131:D177Y	ENSP00000328118:D177Y	D	-	1	0	MCF2L2	184523791	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.610000	0.67668	2.610000	0.88304	0.655000	0.94253	GAC		0.423	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		21	174	1	0	1.55795e-14	1	1.77703e-14	21	174					A	183041097	C	A	183041097	3	1	34	1	0	0	0	0	1	0	0	0	9389	884	31	2	2915	2	MCF2L2	3	183041097	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08	18299625	183041097	14981333	15	3233										
RFC4	5984	broad.mit.edu	37	chr3	186510374	186510374	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	cttgaagcggaattttgaacAtctagaggtcaggggttcaa	12	6	3	3			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:186510374A>G	ENST00000392481.2	-	7	861	c.580T>C	c.(580-582)Tgt>Cgt	p.C194R	RFC4_ENST00000296273.2_Missense_Mutation_p.C194R|RFC4_ENST00000433496.1_Missense_Mutation_p.C194R	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	194					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)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		AATTTTGAACATCTAGAGGTC	0.363																																						ENST00000392481.2																			0				breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(580-582)Tgt>Cgt		replication factor C (activator 1) 4, 37kDa							87	95	92					3																	186510374		2203	4300	6503	SO:0001583	missense	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|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.chr3:186510374A>G		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"ATPases / AAA-type"	9972	protein-coding gene	gene with protein product	"A1 37 kDa subunit", "activator 1 37 kDa subunit", "RFC 37 kDa subunit"	102577	"replication factor C (activator 1) 4 (37kD)"			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.580T>C	3.37:g.186510374A>G	ENSP00000376272:p.Cys194Arg		Somatic				RFC4_ENST00000296273.2_Missense_Mutation_p.C194R|RFC4_ENST00000433496.1_Missense_Mutation_p.C194R	p.C194R	NM_181573.2	NP_853551.1	WXS	Illumina GAIIx	Phase_I	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	7	861	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		194					B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	c.580T>C	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.679477	0.88542	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000418288	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.65	5.65	0.86999	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	H	0.98525	4.255	0.80722	D	1	P;D	0.60575	0.945;0.988	P;P	0.61070	0.679;0.883	D	0.86816	0.2001	10	0.87932	D	0	-17.9697	14.1241	0.65208	1.0:0.0:0.0:0.0	.	194;194	B4DM41;P35249	.;RFC4_HUMAN	R	194	ENSP00000399769:C194R;ENSP00000376272:C194R;ENSP00000296273:C194R;ENSP00000411300:C194R	ENSP00000296273:C194R	C	-	1	0	RFC4	187993068	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.265000	0.95647	2.279000	0.76181	0.533000	0.62120	TGT		0.363	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		20	240	0	0	0	1	0	20	240					G	186510374	A	G	186510374	3	3	34	1	0	0	0	0	1	0	0	0	13262	217	8	4	531	4	RFC4	3	186510374	Missense_Mutation	SNP	A	TCGA-N9-A4Q1-01A-11D-A28R-08	3469277	186510374	11512056	16	3234										
ZNF518B	85460	broad.mit.edu	37	chr4	10446750	10446750	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	actgtcagtgactttgttttTtctgcagaaagtactttttc	7	7	2	2			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr4:10446750T>G	ENST00000326756.3	-	3	1641	c.1203A>C	c.(1201-1203)gaA>gaC	p.E401D		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	401					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						ACTTTGTTTTTTCTGCAGAAA	0.378																																						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.(1201-1203)gaA>gaC		zinc finger protein 518B							166	168	167					4																	10446750		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10446750T>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.1203A>C	4.37:g.10446750T>G	ENSP00000317614:p.Glu401Asp		Somatic					p.E401D	NM_053042.2	NP_444270.2	WXS	Illumina GAIIx	Phase_I	Q9C0D4	Z518B_HUMAN			3	1641	-			401					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.1203A>C	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.392969	0.42410	.	.	ENSG00000178163	ENST00000326756	T	0.01787	4.64	6.07	-12.1	0.00011	.	0.659654	0.13728	N	0.366882	T	0.00936	0.0031	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.37126	-0.9719	10	0.17832	T	0.49	-12.7606	4.9274	0.13900	0.1891:0.4593:0.14:0.2115	.	401	Q9C0D4	Z518B_HUMAN	D	401	ENSP00000317614:E401D	ENSP00000317614:E401D	E	-	3	2	ZNF518B	10055848	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.044000	0.12023	-3.266000	0.00200	-1.119000	0.02030	GAA		0.378	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		8	151	0	0	0	1	0	8	151					G	10446750	T	G	10446750	3	3	34	1	0	0	0	0	1	0	0	0	17978	1838	64	4	2025	4	ZNF518B	4	10446750	Missense_Mutation	SNP	T	TCGA-N9-A4Q1-01A-11D-A28R-08		10446750	180707526	17	3235										
TMPRSS11F	389208	broad.mit.edu	37	chr4	68956262	68956262	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	attctttcaatctgatgactCctttctataaactctcttga	3	10	5	3			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr4:68956262C>G	ENST00000356291.2	-	3	320	c.261G>C	c.(259-261)agG>agC	p.R87S		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	87	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TCTGATGACTCCTTTCTATAA	0.294																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(259-261)agG>agC		transmembrane protease, serine 11F							73	75	74					4																	68956262		2203	4296	6499	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68956262C>G	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.261G>C	4.37:g.68956262C>G	ENSP00000348639:p.Arg87Ser		Somatic					p.R87S	NM_207407.2	NP_997290.2	WXS	Illumina GAIIx	Phase_I	Q6ZWK6	TM11F_HUMAN			3	320	-			87			SEA.		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.261G>C	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487506	0.26686	.	.	ENSG00000198092	ENST00000356291	T	0.38240	1.15	5.56	-4.47	0.03525	SEA (3);	0.000000	0.64402	D	0.000017	T	0.32645	0.0836	L	0.57536	1.79	0.30715	N	0.748916	P	0.35468	0.503	B	0.37833	0.259	T	0.36601	-0.9741	10	0.87932	D	0	.	13.506	0.61483	0.0:0.2498:0.0:0.7502	.	87	Q6ZWK6	TM11F_HUMAN	S	87	ENSP00000348639:R87S	ENSP00000348639:R87S	R	-	3	2	TMPRSS11F	68638857	0.872000	0.30054	0.916000	0.36221	0.276000	0.26787	-0.534000	0.06150	-0.968000	0.03578	-0.806000	0.03193	AGG		0.294	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		4	18	0	0	0	1	0	4	18					G	68956262	C	G	68956262	3	3	34	1	0	0	0	0	1	0	0	0	16258	854	30	2	1087	2	TMPRSS11F	4	68956262	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08	58509512	68956262	122198014	18	3236										
SCLT1	132320	broad.mit.edu	37	chr4	129867279	129867279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	cttccagttttctgtaatcaCtctcatttcctctgccttca	3	14	5	0			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr4:129867279C>T	ENST00000281142.5	-	16	1825	c.1322G>A	c.(1321-1323)aGt>aAt	p.S441N	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	441			S -> C (in dbSNP:rs10028124). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.		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						TCTGTAATCACTCTCATTTCC	0.348																																						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.(1321-1323)aGt>aAt		sodium channel and clathrin linker 1							98	91	93					4																	129867279		2202	4298	6500	SO:0001583	missense	132320					centrosome		g.chr4:129867279C>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.1322G>A	4.37:g.129867279C>T	ENSP00000281142:p.Ser441Asn		Somatic				SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron	p.S441N	NM_144643.2	NP_653244.2	WXS	Illumina GAIIx	Phase_I	Q96NL6	SCLT1_HUMAN			16	1825	-			441		S -> C (in dbSNP:rs10028124).			A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.1322G>A	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	C	4.241	0.043612	0.08196	.	.	ENSG00000151466	ENST00000281142	T	0.29142	1.58	4.39	0.33	0.15929	.	0.681258	0.15234	N	0.273277	T	0.16599	0.0399	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.11567	-1.0582	9	.	.	.	-0.2858	9.0246	0.36220	0.0:0.5524:0.0:0.4476	.	441	Q96NL6	SCLT1_HUMAN	N	441	ENSP00000281142:S441N	.	S	-	2	0	SCLT1	130086729	0.022000	0.18835	0.998000	0.56505	0.715000	0.41141	-0.205000	0.09411	0.032000	0.15435	-1.031000	0.02408	AGT		0.348	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		9	5	0	0	0	1	0	9	5					T	129867279	C	T	129867279	3	4	34	1	0	0	0	0	1	0	0	0	13921	565	20	3	768	3	SCLT1	4	129867279	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08	60911017	129867279	61286997	19	3237										
FAM50B	26240	broad.mit.edu	37	chr6	3850736	3850736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	tcctggagctgcgctccgccGgcgtggagcagctcatgttc	14	14	1	0			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr6:3850736G>A	ENST00000380274.1	+	1	1117	c.691G>A	c.(691-693)Ggc>Agc	p.G231S	FAM50B_ENST00000380272.3_Missense_Mutation_p.G231S			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	231						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)				GCGCTCCGCCGGCGTGGAGCA	0.657																																						ENST00000380274.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(691-693)Ggc>Agc		family with sequence similarity 50, member B							54	50	52					6																	3850736		2203	4300	6503	SO:0001583	missense	26240					nucleus		g.chr6:3850736G>A	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.691G>A	6.37:g.3850736G>A	ENSP00000369627:p.Gly231Ser		Somatic				FAM50B_ENST00000380272.3_Missense_Mutation_p.G231S	p.G231S			WXS	Illumina GAIIx	Phase_I	Q9Y247	FA50B_HUMAN			1	1117	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	231					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.691G>A	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	G	3.595	-0.082736	0.07141	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.34	1.58	0.23477	.	0.058355	0.64402	D	0.000002	T	0.09247	0.0228	N	0.11651	0.15	0.39088	D	0.961046	B	0.18610	0.029	B	0.14578	0.011	T	0.34675	-0.9819	9	0.02654	T	1	-27.9402	7.9166	0.29822	0.2806:0.0:0.7194:0.0	.	231	Q9Y247	FA50B_HUMAN	S	231	.	ENSP00000369625:G231S	G	+	1	0	FAM50B	3795735	0.999000	0.42202	0.205000	0.23548	0.990000	0.78478	2.940000	0.49003	0.219000	0.20840	0.555000	0.69702	GGC		0.657	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		85	77	0	0	0	1	0	85	77					A	3850736	G	A	3850736	3	1	34	1	0	0	0	0	1	0	0	0	5586	1116	39	1	693	1	FAM50B	6	3850736	Missense_Mutation	SNP	G	TCGA-N9-A4Q1-01A-11D-A28R-08		3850736	167264331	20	3238										
CAP2	10486	broad.mit.edu	37	chr6	17556635	17556635	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	tcaagacagcatgggatggaTccaagttaatcactgaacct	9	9	2	2			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr6:17556635T>G	ENST00000229922.2	+	13	1928	c.1396T>G	c.(1396-1398)Tcc>Gcc	p.S466A	CAP2_ENST00000489374.1_Missense_Mutation_p.S354A|CAP2_ENST00000465994.1_Missense_Mutation_p.S402A|CAP2_ENST00000493172.1_Missense_Mutation_p.S206A|CAP2_ENST00000378990.2_Missense_Mutation_p.S440A	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	466					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ATGGGATGGATCCAAGTTAAT	0.403																																						ENST00000229922.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(1396-1398)Tcc>Gcc		CAP, adenylate cyclase-associated protein, 2 (yeast)							133	121	125					6																	17556635		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17556635T>G	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.1396T>G	6.37:g.17556635T>G	ENSP00000229922:p.Ser466Ala		Somatic				CAP2_ENST00000378990.2_Missense_Mutation_p.S440A|CAP2_ENST00000465994.1_Missense_Mutation_p.S402A|CAP2_ENST00000493172.1_Missense_Mutation_p.S206A|CAP2_ENST00000489374.1_Missense_Mutation_p.S354A	p.S466A	NM_006366.2	NP_006357.1	WXS	Illumina GAIIx	Phase_I	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		13	1928	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	466					B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.1396T>G	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567400	0.45694	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000489374;ENST00000378990;ENST00000493172;ENST00000465994	T;T;T;T	0.08008	3.14;3.14;3.15;3.14	5.93	4.75	0.60458	Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);Adenylate cyclase-associated CAP, C-terminal (2);	0.049802	0.85682	N	0.000000	T	0.05547	0.0146	M	0.68952	2.095	0.48901	D	0.999722	B;B;B;B;B	0.20368	0.044;0.008;0.013;0.002;0.02	B;B;B;B;B	0.22753	0.036;0.011;0.036;0.012;0.041	T	0.06643	-1.0815	10	0.41790	T	0.15	-13.7544	13.3917	0.60827	0.0:0.0:0.1314:0.8686	.	206;354;402;440;466	B7Z214;B7Z385;B7Z1C4;E9PDI2;P40123	.;.;.;.;CAP2_HUMAN	A	466;383;354;440;206;402	ENSP00000229922:S466A;ENSP00000417705:S354A;ENSP00000368275:S440A;ENSP00000418604:S402A	ENSP00000229922:S466A	S	+	1	0	CAP2	17664614	0.948000	0.32251	1.000000	0.80357	0.993000	0.82548	0.746000	0.26275	1.055000	0.40461	0.529000	0.55759	TCC		0.403	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			32	39	0	0	0	1	0	32	39					G	17556635	T	G	17556635	3	3	34	1	0	0	0	0	1	0	0	0	2622	1435	50	4	1442	4	CAP2	6	17556635	Missense_Mutation	SNP	T	TCGA-N9-A4Q1-01A-11D-A28R-08	13705899	17556635	153558432	21	3239										
C6orf167	253714	broad.mit.edu	37	chr6	97681791	97681791	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	acaattgcaatgtttggctcCcagaaatcacaaagtgtcaa	7	9	2	1			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr6:97681791C>A	ENST00000275053.4	-	12	1513	c.1248G>T	c.(1246-1248)tgG>tgT	p.W416C	MMS22L_ENST00000369251.2_Intron	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	416					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTTTGGCTCCCAGAAATCAC	0.323																																						ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1246-1248)tgG>tgT		MMS22-like, DNA repair protein							91	92	92					6																	97681791		2202	4299	6501	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97681791C>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1248G>T	6.37:g.97681791C>A	ENSP00000275053:p.Trp416Cys		Somatic				MMS22L_ENST00000369251.2_Intron	p.W416C	NM_198468.2	NP_940870.2	WXS	Illumina GAIIx	Phase_I	Q6ZRQ5	MMS22_HUMAN			12	1513	-			416					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.1248G>T	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513109	0.85389	.	.	ENSG00000146263	ENST00000275053;ENST00000510018	T;T	0.38401	1.14;1.14	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.58352	0.2116	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62402	-0.6862	10	0.87932	D	0	-6.2304	19.5153	0.95160	0.0:1.0:0.0:0.0	.	416	Q6ZRQ5	MMS22_HUMAN	C	416;304	ENSP00000275053:W416C;ENSP00000427288:W304C	ENSP00000275053:W416C	W	-	3	0	MMS22L	97788512	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.737000	0.74816	2.686000	0.91538	0.655000	0.94253	TGG		0.323	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		28	20	1	0	5.61819e-17	1	6.50996e-17	28	20					A	97681791	C	A	97681791	3	1	34	1	0	0	0	0	1	0	0	0	2344	624	22	5	2539	5	C6orf167	6	97681791	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08	80125156	97681791	73433276	22	3240										
SDK1	221935	broad.mit.edu	37	chr7	4119118	4119118	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ttcctggtgccccatccaacCtggtcatttccaacatcagc	6	16	2	0			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr7:4119118C>A	ENST00000404826.2	+	22	3365	c.3226C>A	c.(3226-3228)Ctg>Atg	p.L1076M	SDK1_ENST00000389531.3_Missense_Mutation_p.L1076M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1076	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)		CCCATCCAACCTGGTCATTTC	0.547																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(3226-3228)Ctg>Atg		sidekick cell adhesion molecule 1							192	183	186					7																	4119118		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4119118C>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3226C>A	7.37:g.4119118C>A	ENSP00000385899:p.Leu1076Met		Somatic				SDK1_ENST00000389531.3_Missense_Mutation_p.L1076M	p.L1076M	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	3365	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1076			Fibronectin type-III 5.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.3226C>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458577	0.63401	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.65178	-0.14;-0.14	5.08	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000050	T	0.80864	0.4705	M	0.91406	3.205	0.45366	D	0.998359	B;D	0.55605	0.443;0.972	B;P	0.61874	0.302;0.895	D	0.84756	0.0759	10	0.66056	D	0.02	.	12.8772	0.57998	0.0:0.9216:0.0:0.0784	.	1076;1076	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	M	1076	ENSP00000385899:L1076M;ENSP00000374182:L1076M	ENSP00000374182:L1076M	L	+	1	2	SDK1	4085644	0.434000	0.25570	0.995000	0.50966	0.904000	0.53231	1.004000	0.29822	2.359000	0.80004	0.655000	0.94253	CTG		0.547	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		90	20	1	0	1.11079e-38	1	1.35147e-38	90	20					A	4119118	C	A	4119118	3	1	34	1	0	0	0	0	1	0	0	0	13983	680	24	5	3312	5	SDK1	7	4119118	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08		4119118	155019545	23	3241										
AMPH	273	broad.mit.edu	37	chr7	38457436	38457436	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ggtgctcaccactgcctcctCcactggctcctcagcccgag	9	19	2	0			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr7:38457436C>G	ENST00000356264.2	-	17	1602	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q	AMPH_ENST00000471913.1_Intron|AMPH_ENST00000428293.2_Intron|AMPH_ENST00000325590.5_Intron	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	463					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACTGCCTCCTCCACTGGCTCC	0.602																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1387-1389)Gag>Cag		amphiphysin							125	99	108					7																	38457436		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38457436C>G		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1387G>C	7.37:g.38457436C>G	ENSP00000348602:p.Glu463Gln		Somatic				AMPH_ENST00000428293.2_Intron|AMPH_ENST00000471913.1_Intron|AMPH_ENST00000325590.5_Intron	p.E463Q	NM_001635.3	NP_001626.1	WXS	Illumina GAIIx	Phase_I	P49418	AMPH_HUMAN			17	1602	-			463					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1387G>C	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399087	0.42512	.	.	ENSG00000078053	ENST00000356264	T	0.61158	0.13	5.01	4.09	0.47781	.	.	.	.	.	T	0.36963	0.0986	N	0.08118	0	0.80722	D	1	B	0.24721	0.11	B	0.16722	0.016	T	0.27839	-1.0062	9	0.41790	T	0.15	-2.7857	13.7411	0.62849	0.0:0.8467:0.1533:0.0	.	463	P49418	AMPH_HUMAN	Q	463	ENSP00000348602:E463Q	ENSP00000348602:E463Q	E	-	1	0	AMPH	38423961	0.847000	0.29606	0.990000	0.47175	0.929000	0.56500	1.153000	0.31676	2.315000	0.78130	0.609000	0.83330	GAG		0.602	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		26	30	0	0	0	1	0	26	30					G	38457436	C	G	38457436	3	3	34	1	0	0	0	0	1	0	0	0	588	864	30	2	720	2	AMPH	7	38457436	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08	34338318	38457436	120681227	24	3242										
ADCK2	90956	broad.mit.edu	37	chr7	140373825	140373825	+	Frame_Shift_Del	DEL	T	T	-													0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	gactgacagcgtccagagacTtggcagggcctcctgtctgc							TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr7:140373825delT	ENST00000072869.4	+	1	873	c.695delT	c.(694-696)cttfs	p.L232fs	ADCK2_ENST00000476491.1_Frame_Shift_Del_p.L232fs	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	232	Protein kinase.					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)					GTCCAGAGACTTGGCAGGGCC	0.582																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(694-696)ctfs		aarF domain containing kinase 2							58	64	62					7																	140373825		2203	4300	6503	SO:0001589	frameshift_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140373825delT	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.695delT	7.37:g.140373825delT	ENSP00000072869:p.Leu232fs		Somatic				ADCK2_ENST00000476491.1_Frame_Shift_Del_p.L232fs	p.L232fs	NM_052853.3	NP_443085.2	WXS	Illumina GAIIx	Phase_I	Q7Z695	ADCK2_HUMAN			1	873	+	Melanoma(164;0.00956)		232			Protein kinase.		Q96CN6|Q9Y6T5	Frame_Shift_Del	DEL	ENST00000072869.4	37	c.695delT	CCDS5861.1																																																																																				0.582	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		40	119						40	119	---	---	---	---	-	140373825	T	-	140373825	7	5	34	1	0	1	0	1	0	0	0	0	289	1609	56	0	697	0	ADCK2	7	140373825	Frame_Shift_Del	DEL	T	TCGA-N9-A4Q1-01A-11D-A28R-08	101916389	140373825	18764838	25	3243										
ZC3H3	23144	broad.mit.edu	37	chr8	144620650	144620650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ttcgacaggtcacaaccagcGaggcctcccgggcctgcctg	12	16	1	0			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr8:144620650G>A	ENST00000262577.5	-	2	918	c.887C>T	c.(886-888)tCg>tTg	p.S296L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	296					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)			CACAACCAGCGAGGCCTCCCG	0.627																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(886-888)tCg>tTg		zinc finger CCCH-type containing 3							74	83	80					8																	144620650		2203	4300	6503	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.chr8:144620650G>A	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.887C>T	8.37:g.144620650G>A	ENSP00000262577:p.Ser296Leu		Somatic					p.S296L	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	918	-	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)		296					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.887C>T	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265602	0.23136	.	.	ENSG00000014164	ENST00000262577	T	0.03663	3.85	5.49	2.64	0.31445	.	0.499853	0.16947	N	0.193060	T	0.05868	0.0153	M	0.69823	2.125	0.09310	N	1	B	0.26041	0.14	B	0.17722	0.019	T	0.19549	-1.0302	10	0.87932	D	0	-1.4625	8.9366	0.35704	0.1351:0.1224:0.7425:0.0	.	296	Q8IXZ2	ZC3H3_HUMAN	L	296	ENSP00000262577:S296L	ENSP00000262577:S296L	S	-	2	0	ZC3H3	144691793	0.002000	0.14202	0.002000	0.10522	0.027000	0.11550	0.776000	0.26704	0.698000	0.31739	0.655000	0.94253	TCG		0.627	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		50	98	0	0	0	1	0	50	98					A	144620650	G	A	144620650	3	1	34	1	0	0	0	0	1	0	0	0	17584	1059	37	1	2003	1	ZC3H3	8	144620650	Missense_Mutation	SNP	G	TCGA-N9-A4Q1-01A-11D-A28R-08		144620650	1743372	26	3244										
HEPHL1	341208	broad.mit.edu	37	chr11	93797646	93797646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	attcagttgacaagaaagatGctgttttccagaggagtaac	10	6	1	4			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr11:93797646G>A	ENST00000315765.9	+	4	786	c.778G>A	c.(778-780)Gct>Act	p.A260T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	260	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAAGAAAGATGCTGTTTTCCA	0.378																																						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.(778-780)Gct>Act		hephaestin-like 1							114	102	106					11																	93797646		1870	4100	5970	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93797646G>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.778G>A	11.37:g.93797646G>A	ENSP00000313699:p.Ala260Thr		Somatic					p.A260T	NM_001098672.1	NP_001092142.1	WXS	Illumina GAIIx	Phase_I	Q6MZM0	HPHL1_HUMAN			4	786	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	260			Plastocyanin-like 2.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.778G>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019294	0.54576	.	.	ENSG00000181333	ENST00000315765	D	0.99793	-6.77	4.98	4.98	0.66077	Cupredoxin (2);	0.260967	0.36555	N	0.002531	D	0.99058	0.9677	L	0.47016	1.485	0.31963	N	0.608169	B	0.29232	0.238	B	0.33196	0.159	D	0.99986	1.3221	10	0.21014	T	0.42	.	18.2757	0.90083	0.0:0.0:1.0:0.0	.	260	Q6MZM0	HPHL1_HUMAN	T	260	ENSP00000313699:A260T	ENSP00000313699:A260T	A	+	1	0	HEPHL1	93437294	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.825000	0.55730	2.314000	0.78098	0.655000	0.94253	GCT		0.378	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		21	3	0	0	0	1	0	21	3					A	93797646	G	A	93797646	3	1	34	1	0	0	0	0	1	0	0	0	7064	1319	46	3	792	3	HEPHL1	11	93797646	Missense_Mutation	SNP	G	TCGA-N9-A4Q1-01A-11D-A28R-08		93797646	41208870	27	3245										
PLEKHG6	55200	broad.mit.edu	37	chr12	6436668	6436670	+	In_Frame_Del	DEL	CTC	CTC	-													0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ccaccctcccgacccccaagCtcctcaacgccgaagcgccc							TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr12:6436668_6436670delCTC	ENST00000396988.3	+	15	2149_2151	c.1919_1921delCTC	c.(1918-1923)gctcct>gct	p.P641del	PLEKHG6_ENST00000011684.7_In_Frame_Del_p.P641del|PLEKHG6_ENST00000304581.8_In_Frame_Del_p.P171del|PLEKHG6_ENST00000449001.2_In_Frame_Del_p.P609del	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	641						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GACCCCCAAGCTCCTCAACGCCG	0.64																																						ENST00000449001.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						c.(1822-1827)gct>g		pleckstrin homology domain containing, family G (with RhoGef domain) member 6																																				SO:0001651	inframe_deletion	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6436668_6436670delCTC	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1919_1921delCTC	12.37:g.6436671_6436673delCTC	ENSP00000380185:p.Pro641del		Somatic				PLEKHG6_ENST00000304581.8_In_Frame_Del_p.AP170del|PLEKHG6_ENST00000396988.3_In_Frame_Del_p.AP640del|PLEKHG6_ENST00000011684.7_In_Frame_Del_p.AP640del	p.AP608del	NM_001144857.1	NP_001138329.1	WXS	Illumina GAIIx	Phase_I	Q3KR16	PKHG6_HUMAN			14	2317_2319	+			640					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	In_Frame_Del	DEL	ENST00000396988.3	37	c.1823_1825delCTC	CCDS8541.1																																																																																				0.64	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		50	48						50	48	---	---	---	---	-	6436670	CTC	-	6436668	7	5	34	1	0	1	0	1	0	0	0	0	12083	797	28	0	2019	0	PLEKHG6	12	6436668	In_Frame_Del	DEL	CTC	TCGA-N9-A4Q1-01A-11D-A28R-08		6436668	127415227	28	3246										
SOX5	6660	broad.mit.edu	37	chr12	23699267	23699268	+	Frame_Shift_Ins	INS	-	-	T													0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	accatcagaatctccactcaINSgattgaaatccatcattgca							TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr12:23699267_23699268insT	ENST00000451604.2	-	12	1680_1681	c.1579_1580insA	c.(1579-1581)ctgfs	p.L527fs	SOX5_ENST00000546136.1_Frame_Shift_Ins_p.L514fs|SOX5_ENST00000545921.1_Frame_Shift_Ins_p.L517fs|SOX5_ENST00000309359.1_Frame_Shift_Ins_p.L514fs|SOX5_ENST00000381381.2_Frame_Shift_Ins_p.L406fs|SOX5_ENST00000396007.2_Frame_Shift_Ins_p.L141fs|SOX5_ENST00000541536.1_Frame_Shift_Ins_p.L406fs|SOX5_ENST00000537393.1_Frame_Shift_Ins_p.L492fs			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	527					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ATCTCCACTCAGATTGAAATCC	0.337																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(1540-1542)gagfs		SRY (sex determining region Y)-box 5																																				SO:0001589	frameshift_variant	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23699267_23699268insT	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1579_1580insA	12.37:g.23699267_23699268insT	ENSP00000398273:p.Leu527fs		Somatic				SOX5_ENST00000541536.1_Frame_Shift_Ins_p.E406fs|SOX5_ENST00000545921.1_Frame_Shift_Ins_p.E517fs|SOX5_ENST00000451604.2_Frame_Shift_Ins_p.E527fs|SOX5_ENST00000381381.2_Frame_Shift_Ins_p.E406fs|SOX5_ENST00000396007.2_Frame_Shift_Ins_p.E141fs|SOX5_ENST00000537393.1_Frame_Shift_Ins_p.E492fs|SOX5_ENST00000309359.1_Frame_Shift_Ins_p.E514fs	p.E514fs			WXS	Illumina GAIIx	Phase_I	P35711	SOX5_HUMAN			11	1542_1543	-			527	E -> Q (in Ref. 4; AAB49537).				B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Frame_Shift_Ins	INS	ENST00000451604.2	37	c.1540_1541insA	CCDS8699.1																																																																																				0.337	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		33	43						33	43	---	---	---	---	T	23699268	-	T	23699267	7	5	34	1	0	1	1	0	0	0	0	0	14969	188	7	0	727	0	SOX5	12	23699267	Frame_Shift_Ins	INS	-	TCGA-N9-A4Q1-01A-11D-A28R-08	17262599	23699267	110152628	29	3247										
KIF21A	55605	broad.mit.edu	37	chr12	39735322	39735322	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	agtacctttttcatctgattCagaatctgattcatcagaac	5	9	6	4			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr12:39735322C>A	ENST00000361418.5	-	14	1921	c.1906G>T	c.(1906-1908)Gaa>Taa	p.E636*	KIF21A_ENST00000541463.2_Nonsense_Mutation_p.E623*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.E623*|KIF21A_ENST00000395670.3_Nonsense_Mutation_p.E636*|KIF21A_ENST00000544797.2_Nonsense_Mutation_p.E623*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	636					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)				TCATCTGATTCAGAATCTGAT	0.388																																						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.(1906-1908)Gaa>Taa		kinesin family member 21A							117	114	115					12																	39735322		2203	4300	6503	SO:0001587	stop_gained	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39735322C>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1906G>T	12.37:g.39735322C>A	ENSP00000354878:p.Glu636*		Somatic				KIF21A_ENST00000544797.2_Nonsense_Mutation_p.E623*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.E623*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.E623*|KIF21A_ENST00000361418.5_Nonsense_Mutation_p.E636*	p.E636*			WXS	Illumina GAIIx	Phase_I	Q7Z4S6	KI21A_HUMAN			14	2325	-		Lung NSC(34;0.179)|all_lung(34;0.213)	636					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Nonsense_Mutation	SNP	ENST00000361418.5	37	c.1906G>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	41	8.547841	0.98859	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	.	.	.	5.68	5.68	0.88126	.	0.122142	0.36167	N	0.002754	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.7873	0.96444	0.0:1.0:0.0:0.0	.	.	.	.	X	623;636;636;623;636;623	.	ENSP00000344501:E636X	E	-	1	0	KIF21A	38021589	1.000000	0.71417	0.890000	0.34922	0.867000	0.49689	6.779000	0.75057	2.673000	0.90976	0.655000	0.94253	GAA		0.388	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		17	19	1	0	3.41278e-10	1	3.7184e-10	17	19					A	39735322	C	A	39735322	4	1	34	1	0	0	0	0	0	1	0	0	8297	835	29	2	3218	2	KIF21A	12	39735322	Nonsense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08	16036055	39735322	94116573	30	3248										
C12orf48	55010	broad.mit.edu	37	chr12	102590065	102590066	+	In_Frame_Ins	INS	-	-	ATA													0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ttaactcagttttttagactINSataaatttgtgtcttatatg							TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr12:102590065_102590066insATA	ENST00000358383.5	+	11	1781_1782	c.1736_1737insATA	c.(1735-1740)ctataa>ctATAataa	p.580_581ins*	PARPBP_ENST00000392911.2_In_Frame_Ins_p.499_500ins*|PARPBP_ENST00000543784.1_3'UTR|PARPBP_ENST00000378128.3_3'UTR|PARPBP_ENST00000327680.2_In_Frame_Ins_p.499_500ins*|PARPBP_ENST00000535811.1_3'UTR|PARPBP_ENST00000541394.1_In_Frame_Ins_p.657_658ins*			Q9NWS1	PARI_HUMAN	PARP1 binding protein	0					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						TTTTTTAGACTATAAATTTGTG	0.312																																						ENST00000327680.2																			0				endometrium(1)|lung(8)|urinary_tract(2)	11						c.(1492-1494)cta>cATAta		PARP1 binding protein																																				SO:0001652	inframe_insertion	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102590065_102590066insATA	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"PARP-1 binding protein"	613687	"chromosome 12 open reading frame 48"	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1737_1739dupATA	12.37:g.102590066_102590068dupATA	Exception_encountered		Somatic				PARPBP_ENST00000543784.1_3'UTR|PARPBP_ENST00000541394.1_In_Frame_Ins_p.656_656L>HI|PARPBP_ENST00000535811.1_3'UTR|PARPBP_ENST00000392911.2_In_Frame_Ins_p.498_498L>HI|PARPBP_ENST00000358383.5_In_Frame_Ins_p.579_579L>HI|PARPBP_ENST00000378128.3_3'UTR	p.498_498L>HI	NM_017915.3	NP_060385.3	WXS	Illumina GAIIx	Phase_I	Q9NWS1	PR1BP_HUMAN			12	1956_1957	+			579					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	In_Frame_Ins	INS	ENST00000358383.5	37	c.1493_1494insATA	CCDS9090.2																																																																																				0.312	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		30	35						30	35	---	---	---	---	ATA	102590066	-	ATA	102590065	7	5	34	1	0	1	1	0	0	0	0	0	1694	1522	53	0	1527	0	C12orf48	12	102590065	In_Frame_Ins	INS	-	TCGA-N9-A4Q1-01A-11D-A28R-08	62854743	102590065	31261830	31	3249										
ZC3H13	23091	broad.mit.edu	37	chr13	46553965	46553965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	aacctctctctctgttgtcaCgacggtctcgctctccatgt	7	15	5	0			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr13:46553965C>T	ENST00000242848.4	-	11	2243	c.1895G>A	c.(1894-1896)cGt>cAt	p.R632H	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R632H			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	632	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)		TCTGTTGTCACGACGGTCTCG	0.373																																					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.(1894-1896)cGt>cAt		zinc finger CCCH-type containing 13							153	144	147					13																	46553965		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46553965C>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.1895G>A	13.37:g.46553965C>T	ENSP00000242848:p.Arg632His		Somatic				ZC3H13_ENST00000282007.3_Missense_Mutation_p.R632H	p.R632H			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	2243	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	632			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1895G>A		.	.	.	.	.	.	.	.	.	.	C	16.56	3.157907	0.57368	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.34859	2.36;1.34	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000004	T	0.53222	0.1783	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.29640	-1.0005	10	0.32370	T	0.25	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	632;632	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	H	632;632;448	ENSP00000242848:R632H;ENSP00000282007:R632H	ENSP00000242848:R632H	R	-	2	0	ZC3H13	45451966	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.104000	0.71498	2.937000	0.99478	0.650000	0.86243	CGT		0.373	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		16	103	0	0	0	1	0	16	103					T	46553965	C	T	46553965	3	4	34	1	0	0	0	0	1	0	0	0	17580	536	19	1	2827	1	ZC3H13	13	46553965	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08		46553965	68615913	32	3250										
RNASEH2B	79621	broad.mit.edu	37	chr13	51530513	51530513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	gaaaaatagcaaaatgactgCagctcagaaggctttggcta	10	7	1	2			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr13:51530513C>T	ENST00000336617.3	+	11	1241	c.842C>T	c.(841-843)gCa>gTa	p.A281V	RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	281					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		AAAATGACTGCAGCTCAGAAG	0.289																																						ENST00000336617.3																			0				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(841-843)gCa>gTa		ribonuclease H2, subunit B							33	35	34					13																	51530513		2199	4296	6495	SO:0001583	missense	79621				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr13:51530513C>T	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"deleted in lymphocytic leukemia 8", "Aicardi-Goutieres syndrome 2"	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.842C>T	13.37:g.51530513C>T	ENSP00000337623:p.Ala281Val		Somatic				RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR	p.A281V	NM_024570.3	NP_078846.2	WXS	Illumina GAIIx	Phase_I	Q5TBB1	RNH2B_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	11	1241	+		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	281					G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Missense_Mutation	SNP	ENST00000336617.3	37	c.842C>T	CCDS9425.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982439	0.93044	.	.	ENSG00000136104	ENST00000336617;ENST00000539292	D	0.96491	-4.03	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.98065	0.9362	M	0.85299	2.745	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	D	0.97412	1.0003	10	0.33940	T	0.23	-17.2736	17.3475	0.87313	0.0:1.0:0.0:0.0	.	281	Q5TBB1	RNH2B_HUMAN	V	281	ENSP00000337623:A281V	ENSP00000337623:A281V	A	+	2	0	RNASEH2B	50428514	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.743000	0.68655	2.871000	0.98454	0.655000	0.94253	GCA		0.289	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570		4	1	0	0	0	1	0	4	1					T	51530513	C	T	51530513	3	4	34	1	0	0	0	0	1	0	0	0	13428	710	25	3	884	3	RNASEH2B	13	51530513	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08	4976548	51530513	63639365	33	3251										
KLF5	688	broad.mit.edu	37	chr13	73636638	73636638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	cacaacaggccacttactttCccccgtcaccaccaagctca	4	19	2	0			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr13:73636638C>T	ENST00000377687.4	+	2	1437	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.P210S	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	301			P -> S (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P301S(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CACTTACTTTCCCCCGTCACC	0.512																																						ENST00000377687.4																			1	Substitution - Missense(1)	p.P301S(1)	large_intestine(1)	breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(901-903)Ccc>Tcc		Kruppel-like factor 5 (intestinal)							123	101	108					13																	73636638		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636638C>T	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.901C>T	13.37:g.73636638C>T	ENSP00000366915:p.Pro301Ser		Somatic				KLF5_ENST00000539231.1_Missense_Mutation_p.P210S|KLF5_ENST00000477333.1_3'UTR	p.P301S	NM_001730.3	NP_001721.2	WXS	Illumina GAIIx	Phase_I	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	1437	+		Prostate(6;0.00187)|Breast(118;0.0735)	301		P -> S (in a colorectal cancer sample; somatic mutation).			L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.901C>T	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991245	0.74703	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.10668	3.05;2.85	5.92	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.05733	-1.0867	10	0.59425	D	0.04	.	15.2891	0.73852	0.0:0.9328:0.0:0.0672	.	301	Q13887	KLF5_HUMAN	S	210;301;281	ENSP00000440407:P210S;ENSP00000366915:P301S	ENSP00000366915:P301S	P	+	1	0	KLF5	72534639	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.338000	0.79269	1.503000	0.48686	0.555000	0.69702	CCC		0.512	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			28	19	0	0	0	1	0	28	19					T	73636638	C	T	73636638	3	4	34	1	0	0	0	0	1	0	0	0	8358	855	30	3	907	3	KLF5	13	73636638	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08	22106125	73636638	41533240	34	3252										
COL4A1	1282	broad.mit.edu	37	chr13	110835578	110835578	+	Frame_Shift_Del	DEL	G	G	-													0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ccggcagtccttctgctccaGgggggcctggtaaaggaaca							TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr13:110835578delG	ENST00000375820.4	-	27	2064	c.1943delC	c.(1942-1944)cctfs	p.P648fs		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	648	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)			TTCTGCTCCAGGGGGGCCTGG	0.527																																						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.(1942-1944)ctfs		collagen, type IV, alpha 1							25	27	26					13																	110835578		2203	4300	6503	SO:0001589	frameshift_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110835578delG	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.1943delC	13.37:g.110835578delG	ENSP00000364979:p.Pro648fs		Somatic					p.P648fs	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)		27	2064	-	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)	648			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Frame_Shift_Del	DEL	ENST00000375820.4	37	c.1943delC	CCDS9511.1																																																																																				0.527	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			2	4						2	4	---	---	---	---	-	110835578	G	-	110835578	7	5	34	1	0	1	0	1	0	0	0	0	3691	1000	35	0	3170	0	COL4A1	13	110835578	Frame_Shift_Del	DEL	G	TCGA-N9-A4Q1-01A-11D-A28R-08	37198940	110835578	4334300	35	3253										
HOMEZ	57594	broad.mit.edu	37	chr14	23746240	23746240	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ttttgagcaggtgttcattgCtgtctagctcactggtctgg	12	8	4	1			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr14:23746240C>G	ENST00000357460.5	-	2	361	c.197G>C	c.(196-198)aGc>aCc	p.S66T	HOMEZ_ENST00000431326.2_Missense_Mutation_p.S68T|HOMEZ_ENST00000561013.1_Missense_Mutation_p.S68T	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTGTTCATTGCTGTCTAGCTC	0.537																																						ENST00000357460.5																			0				endometrium(5)|lung(7)	12						c.(196-198)aGc>aCc		homeobox and leucine zipper encoding							168	164	165					14																	23746240		2077	4209	6286	SO:0001583	missense	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23746240C>G	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.197G>C	14.37:g.23746240C>G	ENSP00000350049:p.Ser66Thr		Somatic				HOMEZ_ENST00000431326.2_Missense_Mutation_p.S68T|HOMEZ_ENST00000561013.1_Missense_Mutation_p.S68T	p.S66T	NM_020834.2	NP_065885.2	WXS	Illumina GAIIx	Phase_I	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	361	-	all_cancers(95;5.54e-06)		66					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	c.197G>C	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	C	3.280	-0.147172	0.06627	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.23348	1.92;1.91	6.17	3.26	0.37387	Homeobox (1);Homeodomain-like (1);	0.872484	0.10229	N	0.699983	T	0.16428	0.0395	N	0.24115	0.695	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.13407	0.009;0.004	T	0.30937	-0.9961	10	0.20046	T	0.44	2.9071	8.0631	0.30644	0.0:0.5874:0.0:0.4126	.	68;66	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	T	66;68	ENSP00000350049:S66T;ENSP00000406579:S68T	ENSP00000350049:S66T	S	-	2	0	HOMEZ	22816080	0.076000	0.21285	0.672000	0.29872	0.986000	0.74619	0.409000	0.21082	0.859000	0.35456	0.655000	0.94253	AGC		0.537	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		18	60	0	0	0	1	0	18	60					G	23746240	C	G	23746240	3	3	34	1	0	0	0	0	1	0	0	0	7290	797	28	5	1459	5	HOMEZ	14	23746240	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08		23746240	83603300	36	3254										
RALGAPA1	253959	broad.mit.edu	37	chr14	36128374	36128374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	cagagggctcatctcttgccGagcttaatacagttttgatt	9	9	2	2			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr14:36128374G>A	ENST00000389698.3	-	27	4229	c.3839C>T	c.(3838-3840)tCg>tTg	p.S1280L	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.S1327L|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S1293L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S1280L	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1280					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						ATCTCTTGCCGAGCTTAATAC	0.353																																						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.(3979-3981)tCg>tTg		Ral GTPase activating protein, alpha subunit 1 (catalytic)							64	61	62					14																	36128374		2202	4300	6502	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36128374G>A	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.3839C>T	14.37:g.36128374G>A	ENSP00000374348:p.Ser1280Leu		Somatic				RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S1293L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S1280L|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S1280L	p.S1327L			WXS	Illumina GAIIx	Phase_I	Q6GYQ0	RGPA1_HUMAN			28	4370	-			1280			Minimal domain that binds to TCF3/E12 (By similarity).		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.3980C>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	35	5.502594	0.96371	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	5.81	5.81	0.92471	.	0.059343	0.64402	D	0.000001	T	0.74876	0.3774	L	0.58101	1.795	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;0.995;0.999;0.99	D;P;D;P	0.83275	0.996;0.782;0.932;0.534	T	0.74153	-0.3757	10	0.56958	D	0.05	-11.2172	20.0762	0.97745	0.0:0.0:1.0:0.0	.	1327;1293;1280;1280	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	L	1280;1280;1280;1327;1293;1327	ENSP00000374348:S1280L;ENSP00000302647:S1280L;ENSP00000258840:S1327L;ENSP00000371803:S1293L;ENSP00000451877:S1327L	ENSP00000258840:S1327L	S	-	2	0	RALGAPA1	35198125	1.000000	0.71417	0.971000	0.41717	0.994000	0.84299	8.435000	0.90297	2.756000	0.94617	0.655000	0.94253	TCG		0.353	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		12	3	0	0	0	1	0	12	3					A	36128374	G	A	36128374	3	1	34	1	0	0	0	0	1	0	0	0	13028	1059	37	1	2480	1	RALGAPA1	14	36128374	Missense_Mutation	SNP	G	TCGA-N9-A4Q1-01A-11D-A28R-08	12382134	36128374	71221166	37	3255										
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	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ttccttccactcggataagaTgctgaggaggggccagacct	12	11	0	3			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|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	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_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R	p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	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		52	4	0	0	0	1	0	52	4					C	7578271	T	C	7578271	3	2	34	1	0	0	0	0	1	0	0	0	16396	1464	51	4	716	4	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-N9-A4Q1-01A-11D-A28R-08		7578271	73616939	38	3256										
ABCA9	10350	broad.mit.edu	37	chr17	67022537	67022537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ccttaaatggtagcctatgcCccatttcttcttaaggaaca	6	11	2	0			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr17:67022537C>T	ENST00000340001.4	-	16	2333	c.2122G>A	c.(2122-2124)Ggc>Agc	p.G708S	ABCA9_ENST00000370732.2_Missense_Mutation_p.G708S|ABCA9_ENST00000453985.2_Missense_Mutation_p.G708S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	708	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TAGCCTATGCCCCATTTCTTC	0.423																																						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.(2122-2124)Ggc>Agc		ATP-binding cassette, sub-family A (ABC1), member 9							284	270	275					17																	67022537		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67022537C>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.2122G>A	17.37:g.67022537C>T	ENSP00000342216:p.Gly708Ser		Somatic				ABCA9_ENST00000370732.2_Missense_Mutation_p.G708S|ABCA9_ENST00000453985.2_Missense_Mutation_p.G708S	p.G708S	NM_080283.3	NP_525022.2	WXS	Illumina GAIIx	Phase_I	Q8IUA7	ABCA9_HUMAN			16	2333	-	Breast(10;1.47e-12)		708			ABC transporter 1.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.2122G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166603	0.78339	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.71341	-0.56;-0.56	5.43	5.43	0.79202	ABC transporter-like (1);	0.000000	0.49305	D	0.000147	D	0.91192	0.7225	H	0.99182	4.46	0.80722	D	1	D;D	0.76494	0.999;0.973	D;D	0.72075	0.976;0.931	D	0.94531	0.7736	10	0.72032	D	0.01	.	18.1756	0.89760	0.0:1.0:0.0:0.0	.	708;708	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	S	708;691;708;703	ENSP00000342216:G708S;ENSP00000359767:G708S	ENSP00000342216:G708S	G	-	1	0	ABCA9	64534132	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	7.140000	0.77322	2.713000	0.92767	0.655000	0.94253	GGC		0.423	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		299	22	0	0	0	1	0	299	22					T	67022537	C	T	67022537	3	4	34	1	0	0	0	0	1	0	0	0	39	623	22	3	2848	3	ABCA9	17	67022537	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08	59444266	67022537	14172673	39	3257										
ITGB4	3691	broad.mit.edu	37	chr17	73732658	73732658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ccgccaagatccacccgggcCtctgcgaggacctacgctcc	10	19	1	1			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr17:73732658C>T	ENST00000200181.3	+	16	2060	c.1873C>T	c.(1873-1875)Ctc>Ttc	p.L625F	ITGB4_ENST00000339591.3_Missense_Mutation_p.L625F|ITGB4_ENST00000579662.1_Missense_Mutation_p.L625F|ITGB4_ENST00000450894.3_Missense_Mutation_p.L625F|ITGB4_ENST00000449880.2_Missense_Mutation_p.L625F|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	625				IHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDEL KRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHK KK -> STRASARTYAPACSARRGAPARRRGARVRNATSRS RWWTSLREARRWWCAAPSGTRMTTAPTATPWKVTAPLGPTA LSWCTRRR (in Ref. 5; CAB61345). {ECO:0000305}.	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)			CCACCCGGGCCTCTGCGAGGA	0.657																																						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.(1873-1875)Ctc>Ttc		integrin, beta 4							40	37	38					17																	73732658		2202	4298	6500	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.chr17:73732658C>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.1873C>T	17.37:g.73732658C>T	ENSP00000200181:p.Leu625Phe		Somatic				ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.L625F|ITGB4_ENST00000450894.3_Missense_Mutation_p.L625F|ITGB4_ENST00000579662.1_Missense_Mutation_p.L625F|ITGB4_ENST00000449880.2_Missense_Mutation_p.L625F	p.L625F	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)		16	2060	+	all_cancers(13;1.5e-07)		625	IHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDEL KRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHK KK -> STRASARTYAPACSARRGAPARRRGARVRNATSRS RWWTSLREARRWWCAAPSGTRMTTAPTATPWKVTAPLGPTA LSWCTRRR (in Ref. 5; CAB61345).				A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.1873C>T	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	7.644	0.681453	0.14907	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.92752	-3.1;-3.1;-3.1	4.64	3.58	0.41010	Integrin beta subunit, tail (1);	0.342879	0.27126	N	0.020815	D	0.89160	0.6636	L	0.36672	1.1	0.27968	N	0.936528	P;P;P;P;P	0.48503	0.82;0.82;0.887;0.813;0.911	B;B;P;B;B	0.45232	0.372;0.333;0.474;0.372;0.372	D	0.85289	0.1066	10	0.59425	D	0.04	.	15.0532	0.71891	0.0:0.7484:0.2516:0.0	.	585;625;625;625;625	B4E3N0;P16144-5;P16144-3;A0AVL6;P16144	.;.;.;.;ITB4_HUMAN	F	541;625;625;625	ENSP00000200181:L625F;ENSP00000344079:L625F;ENSP00000400217:L625F	ENSP00000200181:L625F	L	+	1	0	ITGB4	71244253	0.812000	0.29077	1.000000	0.80357	0.306000	0.27790	0.981000	0.29526	2.098000	0.63641	0.563000	0.77884	CTC		0.657	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			12	42	0	0	0	1	0	12	42					T	73732658	C	T	73732658	3	4	34	1	0	0	0	0	1	0	0	0	7906	681	24	3	1931	3	ITGB4	17	73732658	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08	6710121	73732658	7462552	40	3258										
HNRNPL	3191	broad.mit.edu	37	chr19	39330769	39330769	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ccatataagcagaagacattGaagactcggtcacagttcat	8	9	2	4	rs267605470		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr19:39330769G>A	ENST00000221419.5	-	8	1566	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F	HNRNPL_ENST00000600873.1_Silent_p.F267F|AC104534.3_ENST00000594769.1_Missense_Mutation_p.S17L	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	400	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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.F267F(1)|p.F400F(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)			AGAAGACATTGAAGACTCGGT	0.577																																						ENST00000594769.1																			2	Substitution - coding silent(2)	p.F267F(1)|p.F400F(1)	lung(2)								c.(49-51)tCa>tTa									48	52	51					19																	39330769		2185	4269	6454	SO:0001819	synonymous_variant	0							g.chr19:39330769G>A	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.1200C>T	19.37:g.39330769G>A			Somatic				HNRNPL_ENST00000600873.1_Silent_p.F267F|HNRNPL_ENST00000221419.5_Silent_p.F400F	p.S17L			WXS	Illumina GAIIx	Phase_I					1	49	-								A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	37	c.50C>T	CCDS33015.1																																																																																				0.577	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			44	9	0	0	0	1	0	44	9					A	39330769	G	A	39330769	2	1	34	1	0	0	0	0	0	0	0	1	7279	1281	45	3		3	HNRNPL	19	39330769	Silent	SNP	G	TCGA-N9-A4Q1-01A-11D-A28R-08		39330769	19798214	41	3259										
NCOA6	23054	broad.mit.edu	37	chr20	33328602	33328602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	aatttggccaattttgtccaCttttcctttgcccttactag	5	11	0	0			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr20:33328602C>T	ENST00000374796.2	-	12	8028	c.5458G>A	c.(5458-5460)Gtg>Atg	p.V1820M	NCOA6_ENST00000359003.2_Missense_Mutation_p.V1820M			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1820	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						ATTTTGTCCACTTTTCCTTTG	0.468																																						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.(5458-5460)Gtg>Atg		nuclear receptor coactivator 6							101	102	102					20																	33328602		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.chr20:33328602C>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.5458G>A	20.37:g.33328602C>T	ENSP00000363929:p.Val1820Met		Somatic				NCOA6_ENST00000359003.2_Missense_Mutation_p.V1820M	p.V1820M			WXS	Illumina GAIIx	Phase_I	Q14686	NCOA6_HUMAN			12	8028	-			1820			EP300/CRSP3-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.5458G>A	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939531	0.73557	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.26067	1.76;1.76	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000004	T	0.24661	0.0598	L	0.27053	0.805	0.39207	D	0.963244	P	0.50272	0.933	P	0.45577	0.486	T	0.01266	-1.1401	10	0.45353	T	0.12	-10.003	16.1979	0.82043	0.0:0.8673:0.1327:0.0	.	1820	Q14686	NCOA6_HUMAN	M	1820	ENSP00000363929:V1820M;ENSP00000351894:V1820M	ENSP00000351894:V1820M	V	-	1	0	NCOA6	32792263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.215000	0.58534	2.941000	0.99782	0.655000	0.94253	GTG		0.468	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		62	46	0	0	0	1	0	62	46					T	33328602	C	T	33328602	3	4	34	1	0	0	0	0	1	0	0	0	10242	565	20	3	753	3	NCOA6	20	33328602	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08		33328602	29696918	42	3260										
CTNNBL1	56259	broad.mit.edu	37	chr20	36488358	36488358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ccgaggaggagttctacctcCggcgcctggatgcggggctc	16	13	1	0			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr20:36488358C>T	ENST00000361383.6	+	14	1567	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	CTNNBL1_ENST00000373473.1_Missense_Mutation_p.R297W|CTNNBL1_ENST00000405275.2_Missense_Mutation_p.R457W|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.R232W|CTNNBL1_ENST00000473857.1_3'UTR	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	484					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GTTCTACCTCCGGCGCCTGGA	0.537																																					Ovarian(184;582 2038 3273 4106 42608)	ENST00000405275.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28						c.(1369-1371)Cgg>Tgg		catenin, beta like 1							52	49	50					20																	36488358		2203	4300	6503	SO:0001583	missense	56259				apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding	g.chr20:36488358C>T	AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"nuclear associated protein"	611537	"chromosome 20 open reading frame 33"	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1450C>T	20.37:g.36488358C>T	ENSP00000355050:p.Arg484Trp		Somatic				CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.R297W|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.R484W|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.R232W	p.R457W			WXS	Illumina GAIIx	Phase_I	Q8WYA6	CTBL1_HUMAN			15	1612	+		Myeloproliferative disorder(115;0.00878)	484					B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	ENST00000361383.6	37	c.1369C>T	CCDS13298.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201021	0.94997	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	T;T;T;T	0.50548	0.74;0.74;0.76;0.76	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.72309	0.3444	M	0.86953	2.85	0.80722	D	1	D;D	0.76494	0.99;0.999	P;D	0.64595	0.677;0.927	T	0.78290	-0.2261	10	0.87932	D	0	-17.015	17.9128	0.88939	0.0:1.0:0.0:0.0	.	484;297	Q8WYA6;Q8WYA6-2	CTBL1_HUMAN;.	W	484;457;297;232	ENSP00000355050:R484W;ENSP00000384355:R457W;ENSP00000362572:R297W;ENSP00000362568:R232W	ENSP00000355050:R484W	R	+	1	2	CTNNBL1	35921772	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.721000	0.61951	2.463000	0.83235	0.561000	0.74099	CGG		0.537	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		30	16	0	0	0	1	0	30	16					T	36488358	C	T	36488358	3	4	34	1	0	0	0	0	1	0	0	0	4020	643	23	1	1504	1	CTNNBL1	20	36488358	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08	3159756	36488358	26537162	43	3261										
SALL4	57167	broad.mit.edu	37	chr20	50407647	50407647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	tatggggtcaggtacagagaGtgcataggggatgccattgc	16	6	1	1			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr20:50407647G>A	ENST00000217086.4	-	2	1486	c.1375C>T	c.(1375-1377)Ctc>Ttc	p.L459F	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	459					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGTACAGAGAGTGCATAGGGG	0.537																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1375-1377)Ctc>Ttc		spalt-like transcription factor 4																																				SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407647G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1375C>T	20.37:g.50407647G>A	ENSP00000217086:p.Leu459Phe		Somatic				SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	p.L459F	NM_020436.3	NP_065169.1	WXS	Illumina GAIIx	Phase_I	Q9UJQ4	SALL4_HUMAN			2	1486	-			459					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.1375C>T	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435324	0.25813	.	.	ENSG00000101115	ENST00000217086	T	0.09911	2.93	5.28	3.15	0.36227	.	0.000000	0.39341	N	0.001381	T	0.09642	0.0237	L	0.55481	1.735	0.45284	D	0.998281	P	0.38195	0.622	B	0.34991	0.193	T	0.12142	-1.0559	10	0.38643	T	0.18	-17.9298	6.7486	0.23475	0.0:0.138:0.5392:0.3228	.	459	Q9UJQ4	SALL4_HUMAN	F	459	ENSP00000217086:L459F	ENSP00000217086:L459F	L	-	1	0	SALL4	49841054	0.455000	0.25736	0.044000	0.18714	0.511000	0.34104	2.099000	0.41767	1.202000	0.43218	0.650000	0.86243	CTC		0.537	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			33	77	0	0	0	1	0	33	77					A	50407647	G	A	50407647	3	1	34	1	0	0	0	0	1	0	0	0	13828	1029	36	3	1798	3	SALL4	20	50407647	Missense_Mutation	SNP	G	TCGA-N9-A4Q1-01A-11D-A28R-08	13919289	50407647	12617873	44	3262										
DSCAM	1826	broad.mit.edu	37	chr21	41741044	41741044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	acctgatacaaaaagtctggCgctgttgctctgcctcgtct	9	12	3	1			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr21:41741044C>T	ENST00000400454.1	-	4	1114	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	213	Ig-like C2-type 2.				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)				AAAAGTCTGGCGCTGTTGCTC	0.428																																					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.(637-639)Gcc>Acc		Down syndrome cell adhesion molecule							86	87	87					21																	41741044		1926	4138	6064	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41741044C>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.637G>A	21.37:g.41741044C>T	ENSP00000383303:p.Ala213Thr		Somatic					p.A213T	NM_001389.3	NP_001380.2	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			4	1114	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	213			Ig-like C2-type 2.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.637G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	36	5.626471	0.96671	.	.	ENSG00000171587	ENST00000400454	T	0.12255	2.7	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	M	0.74546	2.27	0.53688	D	0.999971	D	0.89917	1.0	D	0.69654	0.965	T	0.02417	-1.1162	10	0.49607	T	0.09	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	213	O60469	DSCAM_HUMAN	T	213	ENSP00000383303:A213T	ENSP00000383303:A213T	A	-	1	0	DSCAM	40662914	1.000000	0.71417	0.769000	0.31535	0.950000	0.60333	7.670000	0.83925	2.885000	0.99019	0.655000	0.94253	GCC		0.428	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		28	38	0	0	0	1	0	28	38					T	41741044	C	T	41741044	3	4	34	1	0	0	0	0	1	0	0	0	4770	768	27	1	5521	1	DSCAM	21	41741044	Missense_Mutation	SNP	C	TCGA-N9-A4Q1-01A-11D-A28R-08		41741044	6388851	45	3263										
HDX	139324	broad.mit.edu	37	chrX	83724416	83724416	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0217391304347826	1	1	0.251529790660225	0	0.340305010893246	1	1	0	ctgtatataccagttacaatGacatcattattggcagatgt	7	7	1	2			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chrX:83724416G>T	ENST00000297977.5	-	3	426	c.315C>A	c.(313-315)gtC>gtA	p.V105V	HDX_ENST00000506585.2_Silent_p.V47V|HDX_ENST00000373177.2_Silent_p.V105V	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	105						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CAGTTACAATGACATCATTAT	0.413																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(313-315)gtC>gtA		highly divergent homeobox							172	147	156					X																	83724416		2203	4300	6503	SO:0001819	synonymous_variant	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724416G>T	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.315C>A	X.37:g.83724416G>T			Somatic				HDX_ENST00000506585.2_Silent_p.V47V|HDX_ENST00000373177.2_Silent_p.V105V	p.V105V	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	WXS	Illumina GAIIx	Phase_I	Q7Z353	HDX_HUMAN			3	426	-			105					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	c.315C>A	CCDS35342.1																																																																																				0.413	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		22	9	1	0	2.37509e-13	1	2.66741e-13	22	9					T	83724416	G	T	83724416	2	4	34	1	0	0	0	0	0	0	0	1	7035	1277	45	2		2	HDX	23	83724416	Silent	SNP	G	TCGA-N9-A4Q1-01A-11D-A28R-08		83724416	71546144	46	3264										
TGFBR3	7049	broad.mit.edu	37	chr1	92178081	92178081	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	ggcaaatcccagttcttgttCagccttagtaacagatacct	7	11	2	1			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:92178081C>A	ENST00000525962.1	-	12	1946	c.1885G>T	c.(1885-1887)Gaa>Taa	p.E629*	TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.E628*|TGFBR3_ENST00000212355.4_Nonsense_Mutation_p.E629*			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	629	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)			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)		AGTTCTTGTTCAGCCTTAGTA	0.383																																						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.(1885-1887)Gaa>Taa		transforming growth factor, beta receptor III							92	89	90					1																	92178081		2203	4300	6503	SO:0001587	stop_gained	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.chr1:92178081C>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1885G>T	1.37:g.92178081C>A	ENSP00000436127:p.Glu629*		Somatic				TGFBR3_ENST00000525962.1_Nonsense_Mutation_p.E629*|TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.E628*	p.E629*	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)	13	2350	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	629			ZP.		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Nonsense_Mutation	SNP	ENST00000525962.1	37	c.1885G>T	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	41	8.532768	0.98852	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	.	.	.	6.16	6.16	0.99307	.	0.201156	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.4457	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	629;628;629;628	.	.	E	-	1	0	TGFBR3	91950669	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.454000	0.52986	2.937000	0.99478	0.650000	0.86243	GAA		0.383	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		11	34	1	0	0.00010058	1	0.000102176	11	34					A	92178081	C	A	92178081	4	1	35	1	0	0	0	0	0	1	0	0	15838	835	29	2	690	2	TGFBR3	1	92178081	Nonsense_Mutation	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08		92178081	157072540	1	3265										
FLG	2312	broad.mit.edu	37	chr1	152284630	152284630	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	aggaagcttcatggtgacgtGaccctgagtgcctggagccg	15	10	1	3	rs560401203		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:152284630G>A	ENST00000368799.1	-	3	2767	c.2732C>T	c.(2731-2733)tCa>tTa	p.S911L	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	911	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)			ATGGTGACGTGACCCTGAGTG	0.572									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2731-2733)tCa>tTa		filaggrin							387	365	373					1																	152284630		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.chr1:152284630G>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.2732C>T	1.37:g.152284630G>A	ENSP00000357789:p.Ser911Leu		Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S911L	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2767	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		911			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2732C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	6.474	0.455615	0.12283	.	.	ENSG00000143631	ENST00000368799	T	0.05925	3.37	2.14	2.14	0.27477	.	.	.	.	.	T	0.07593	0.0191	M	0.78916	2.43	0.09310	N	1	D	0.59767	0.986	P	0.55222	0.771	T	0.16129	-1.0413	9	0.42905	T	0.14	.	7.4119	0.27021	0.0:0.0:1.0:0.0	.	911	P20930	FILA_HUMAN	L	911	ENSP00000357789:S911L	ENSP00000357789:S911L	S	-	2	0	FLG	150551254	0.045000	0.20229	0.001000	0.08648	0.006000	0.05464	2.706000	0.47135	1.005000	0.39183	0.479000	0.44913	TCA		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		131	492	0	0	0	1	0	131	492					A	152284630	G	A	152284630	3	1	35	1	0	0	0	0	1	0	0	0	5930	1294	45	3	9457	3	FLG	1	152284630	Missense_Mutation	SNP	G	TCGA-N9-A4Q3-01A-11D-A28R-08	60106549	152284630	96965991	2	3266										
PPOX	5498	broad.mit.edu	37	chr1	161138253	161138253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	agccatggacagtctctgccGtggagtgtttgcaggcaaca	13	10	1	0	rs41270025		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:161138253G>A	ENST00000367999.4	+	6	769	c.503G>A	c.(502-504)cGt>cAt	p.R168H	PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.R168H|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000432542.2_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	168			R -> C (in VP; strongly decreases enzyme activity; does not affect mitochondrial protein targeting and localization). {ECO:0000269|PubMed:8673113, ECO:0000269|PubMed:8817334}.|R -> H (in VP; strongly decreases enzyme activity). {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)			AGTCTCTGCCGTGGAGTGTTT	0.512																																						ENST00000367999.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	GRCh37	CM992655	PPOX	M	rs41270025	c.(502-504)cGt>cAt		protoporphyrinogen oxidase							148	132	137					1																	161138253		2203	4300	6503	SO:0001583	missense	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161138253G>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.503G>A	1.37:g.161138253G>A	ENSP00000356978:p.Arg168His		Somatic				PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.R168H|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron	p.R168H	NM_001122764.1	NP_001116236.1	WXS	Illumina GAIIx	Phase_I	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		6	769	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		168		R -> C.			D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	c.503G>A	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730578	0.89390	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935	D;D	0.92647	-3.08;-3.08	5.23	5.23	0.72850	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.90089	0.6904	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	0.979;1.0;1.0	P;D;D	0.97110	0.768;1.0;1.0	D	0.86385	0.1732	10	0.09084	T	0.74	7.6261	17.7413	0.88407	0.0:0.0:1.0:0.0	.	135;6;168	B4DY76;B3KT30;P50336	.;.;PPOX_HUMAN	H	168;168;135	ENSP00000343943:R168H;ENSP00000356978:R168H	ENSP00000343943:R168H	R	+	2	0	PPOX	159404877	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	8.085000	0.89518	2.701000	0.92244	0.650000	0.86243	CGT		0.512	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		65	69	0	0	0	1	0	65	69					A	161138253	G	A	161138253	3	1	35	1	0	0	0	0	1	0	0	0	12360	1145	40	1	521	1	PPOX	1	161138253	Missense_Mutation	SNP	G	TCGA-N9-A4Q3-01A-11D-A28R-08	8853623	161138253	88112368	3	3267										
TMEM63A	9725	broad.mit.edu	37	chr1	226065190	226065190	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	tttggccgagttgtagcaatAggagtcgttgggccggtccc	15	9	0	0			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:226065190A>C	ENST00000366835.3	-	3	361	c.91T>G	c.(91-93)Tat>Gat	p.Y31D		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	31					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)					TTGTAGCAATAGGAGTCGTTG	0.612											OREG0014291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(91-93)Tat>Gat		transmembrane protein 63A							100	83	89					1																	226065190		2203	4300	6503	SO:0001583	missense	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226065190A>C		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.91T>G	1.37:g.226065190A>C	ENSP00000355800:p.Tyr31Asp		Somatic	OREG0014291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2309		p.Y31D	NM_014698.2	NP_055513.2	WXS	Illumina GAIIx	Phase_I	O94886	TM63A_HUMAN			3	361	-	Breast(184;0.197)		31					Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP	ENST00000366835.3	37	c.91T>G	CCDS31042.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.901077	0.52227	.	.	ENSG00000196187	ENST00000366835;ENST00000436966	T;T	0.27256	1.68;1.68	5.55	5.55	0.83447	.	0.157942	0.56097	D	0.000035	T	0.25754	0.0627	L	0.52126	1.63	0.80722	D	1	B;B	0.29085	0.232;0.232	B;B	0.30029	0.11;0.11	T	0.03453	-1.1035	10	0.33141	T	0.24	-35.6597	13.2193	0.59877	1.0:0.0:0.0:0.0	.	31;31	B3KMR6;O94886	.;TM63A_HUMAN	D	31	ENSP00000355800:Y31D;ENSP00000409002:Y31D	ENSP00000355800:Y31D	Y	-	1	0	TMEM63A	224131813	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	5.620000	0.67736	2.107000	0.64212	0.459000	0.35465	TAT		0.612	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		17	22	0	0	0	1	0	17	22					C	226065190	A	C	226065190	3	2	35	1	0	0	0	0	1	0	0	0	16205	420	15	4	2420	4	TMEM63A	1	226065190	Missense_Mutation	SNP	A	TCGA-N9-A4Q3-01A-11D-A28R-08	64926937	226065190	23185431	4	3268										
KIF26B	55083	broad.mit.edu	37	chr1	245530500	245530500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	ccttggggtcagcaatggggCggaaaagaagagcgggtccc	17	9	1	2	rs200909835		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:245530500C>T	ENST00000407071.2	+	3	1270	c.830C>T	c.(829-831)gCg>gTg	p.A277V	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	277					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)			AGCAATGGGGCGGAAAAGAAG	0.617																																						ENST00000407071.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(829-831)gCg>gTg		kinesin family member 26B		C	VAL/ALA	0,4022		0,0,2011	31	42	38		830	3.9	0.6	1		38	1,8335		0,1,4167	yes	missense	KIF26B	NM_018012.3	64	0,1,6178	TT,TC,CC		0.012,0.0,0.0081	benign	277/2109	245530500	1,12357	2011	4168	6179	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245530500C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.830C>T	1.37:g.245530500C>T	ENSP00000385545:p.Ala277Val		Somatic				KIF26B_ENST00000479506.1_3'UTR	p.A277V	NM_018012.3	NP_060482.2	WXS	Illumina GAIIx	Phase_I	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		3	1270	+	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)		277					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.830C>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364296	0.24684	0.0	1.2E-4	ENSG00000162849	ENST00000407071	T	0.78126	-1.15	5.75	3.9	0.45041	.	0.134018	0.52532	D	0.000061	T	0.50463	0.1617	N	0.11560	0.145	0.54753	D	0.999987	B;B	0.13594	0.008;0.008	B;B	0.10450	0.004;0.005	T	0.38866	-0.9641	10	0.06099	T	0.92	.	4.1457	0.10215	0.1588:0.5584:0.0:0.2827	.	277;277	B4DF75;Q2KJY2	.;KI26B_HUMAN	V	277	ENSP00000385545:A277V	ENSP00000385545:A277V	A	+	2	0	KIF26B	243597123	0.916000	0.31088	0.567000	0.28434	0.871000	0.50021	1.615000	0.36922	0.789000	0.33779	0.655000	0.94253	GCG		0.617	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		7	13	0	0	0	1	0	7	13					T	245530500	C	T	245530500	3	4	35	1	0	0	0	0	1	0	0	0	8304	768	27	1	840	1	KIF26B	1	245530500	Missense_Mutation	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08	19465310	245530500	3720121	5	3269										
KIAA1310	55683	broad.mit.edu	37	chr2	97271234	97271234	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	ctctccttcctctggtggttCtgatgaaatgggaactaaga	10	9	3	3			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr2:97271234C>G	ENST00000431828.1	-	15	1832	c.1756G>C	c.(1756-1758)Gaa>Caa	p.E586Q	KANSL3_ENST00000440133.1_Missense_Mutation_p.E406Q|KANSL3_ENST00000599854.1_Missense_Mutation_p.E499Q|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Missense_Mutation_p.E499Q			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	612					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)											TCTGGTGGTTCTGATGAAATG	0.498																																						ENST00000599854.1																			0											c.(1495-1497)Gaa>Caa		KAT8 regulatory NSL complex subunit 3							101	100	100					2																	97271234		1980	4163	6143	SO:0001583	missense	55683							g.chr2:97271234C>G	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"KIAA1310"	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1756G>C	2.37:g.97271234C>G	ENSP00000396749:p.Glu586Gln		Somatic				KANSL3_ENST00000441706.2_Missense_Mutation_p.E499Q|KANSL3_ENST00000440133.1_Missense_Mutation_p.E406Q|KANSL3_ENST00000431828.1_Missense_Mutation_p.E586Q|KANSL3_ENST00000487070.1_5'UTR	p.E499Q	NM_001115016.2	NP_001108488.1	WXS	Illumina GAIIx	Phase_I	Q9P2N6	K1310_HUMAN			15	1962	-			612					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	c.1495G>C	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137067	0.56936	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759	T;T	0.49139	0.79;0.82	5.89	5.89	0.94794	.	0.114991	0.64402	D	0.000016	T	0.34106	0.0886	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.34290	0.003;0.241;0.005;0.447	B;B;B;B	0.31812	0.002;0.136;0.003;0.136	T	0.09952	-1.0651	10	0.20046	T	0.44	.	17.7556	0.88447	0.0:1.0:0.0:0.0	.	380;586;499;474	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	Q	499;474;586;499;406;380	ENSP00000396749:E586Q;ENSP00000406207:E406Q	ENSP00000346144:E499Q	E	-	1	0	KIAA1310	96634961	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.202000	0.65169	2.793000	0.96121	0.655000	0.94253	GAA		0.498	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		87	52	0	0	0	1	0	87	52					G	97271234	C	G	97271234	3	3	35	1	0	0	0	0	1	0	0	0	8231	922	32	2	908	2	KIAA1310	2	97271234	Missense_Mutation	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08		97271234	145928139	6	3270										
IWS1	55677	broad.mit.edu	37	chr2	128262839	128262839	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	ctgaggtttaggaagctcctCactttcagaatcactcattc	7	11	4	2			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr2:128262839C>T	ENST00000295321.4	-	3	899	c.640G>A	c.(640-642)Gag>Aag	p.E214K	IWS1_ENST00000455721.2_Missense_Mutation_p.E221K|IWS1_ENST00000486662.1_5'UTR|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	214	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)		GGAAGCTCCTCACTTTCAGAA	0.507																																						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.(640-642)Gag>Aag		IWS1 homolog (S. cerevisiae)							136	142	140					2																	128262839		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262839C>T	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.640G>A	2.37:g.128262839C>T	ENSP00000295321:p.Glu214Lys		Somatic				IWS1_ENST00000455721.2_Missense_Mutation_p.E221K|IWS1_ENST00000486662.1_5'UTR|AC010976.2_ENST00000599001.1_RNA	p.E214K	NM_017969.2	NP_060439.2	WXS	Illumina GAIIx	Phase_I	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	899	-	Colorectal(110;0.1)		214			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.640G>A	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.540567	0.45280	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721;ENST00000409725	T;T	0.44881	1.08;0.91	5.7	5.7	0.88788	.	0.055261	0.64402	D	0.000002	T	0.44008	0.1273	M	0.62723	1.935	0.43652	D	0.996063	P	0.42871	0.792	B	0.37731	0.257	T	0.38950	-0.9637	10	0.36615	T	0.2	-19.6295	19.4171	0.94706	0.0:1.0:0.0:0.0	.	214	Q96ST2	IWS1_HUMAN	K	214;167;221;219	ENSP00000295321:E214K;ENSP00000399245:E221K	ENSP00000295321:E214K	E	-	1	0	IWS1	127979309	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	6.223000	0.72257	2.676000	0.91093	0.591000	0.81541	GAG		0.507	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		50	110	0	0	0	1	0	50	110					T	128262839	C	T	128262839	3	4	35	1	0	0	0	0	1	0	0	0	7940	835	29	3	1867	3	IWS1	2	128262839	Missense_Mutation	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08	30991605	128262839	114936534	7	3271										
LRP2	4036	broad.mit.edu	37	chr2	170058203	170058203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	caccattgcagataaactcaCgaggtatgcaccttctgtta	7	11	2	1	rs552943504		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr2:170058203C>T	ENST00000263816.3	-	44	8672	c.8387G>A	c.(8386-8388)cGt>cAt	p.R2796H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2796	LDL-receptor class A 18. {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)"	GATAAACTCACGAGGTATGCA	0.433																																						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.(8386-8388)cGt>cAt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						171	153	159					2																	170058203		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.chr2:170058203C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8387G>A	2.37:g.170058203C>T	ENSP00000263816:p.Arg2796His		Somatic					p.R2796H	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)	44	8672	-			2796			LDL-receptor class A 18.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8387G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032360	0.35893	.	.	ENSG00000081479	ENST00000263816	D	0.95622	-3.76	5.92	0.695	0.18070	.	0.622966	0.17896	N	0.158355	D	0.92021	0.7472	L	0.39147	1.195	0.18873	N	0.999984	D	0.62365	0.991	P	0.49332	0.607	D	0.85132	0.0975	10	0.45353	T	0.12	.	4.1323	0.10154	0.445:0.3647:0.0657:0.1246	.	2796	P98164	LRP2_HUMAN	H	2796	ENSP00000263816:R2796H	ENSP00000263816:R2796H	R	-	2	0	LRP2	169766449	0.720000	0.27996	0.001000	0.08648	0.387000	0.30353	1.486000	0.35530	-0.110000	0.12022	-1.051000	0.02340	CGT		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		38	30	0	0	0	1	0	38	30					T	170058203	C	T	170058203	3	4	35	1	0	0	0	0	1	0	0	0	8965	536	19	1	5724	1	LRP2	2	170058203	Missense_Mutation	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08	41795364	170058203	73141170	8	3272										
EVX2	344191	broad.mit.edu	37	chr2	176944857	176944857	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	atctggtgagcggagcctcgTccctctggtccggcgggctc	15	14	2	1			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr2:176944857T>A	ENST00000308618.4	-	3	1545	c.1409A>T	c.(1408-1410)gAc>gTc	p.D470V		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	470					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CGGAGCCTCGTCCCTCTGGTC	0.726																																						ENST00000308618.4																			0				kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16						c.(1408-1410)gAc>gTc		even-skipped homeobox 2							7	8	8					2																	176944857		2137	4195	6332	SO:0001583	missense	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176944857T>A		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"Homeoboxes / ANTP class : HOXL subclass"	3507	protein-coding gene	gene with protein product		142991	"eve, even-skipped homeobox homolog 2 (Drosophila)"			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.1409A>T	2.37:g.176944857T>A	ENSP00000312385:p.Asp470Val		Somatic					p.D470V	NM_001080458.1	NP_001073927.1	WXS	Illumina GAIIx	Phase_I	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	3	1545	-			470						Missense_Mutation	SNP	ENST00000308618.4	37	c.1409A>T	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.464006	0.63513	.	.	ENSG00000174279	ENST00000308618	D	0.91945	-2.94	2.87	2.87	0.33458	.	0.188385	0.44688	D	0.000426	D	0.82806	0.5117	N	0.14661	0.345	0.58432	D	0.999999	B	0.34015	0.435	B	0.29524	0.103	T	0.83320	-0.0018	10	0.87932	D	0	.	11.3275	0.49456	0.0:0.0:0.0:1.0	.	470	Q03828	EVX2_HUMAN	V	470	ENSP00000312385:D470V	ENSP00000312385:D470V	D	-	2	0	EVX2	176653103	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.126000	0.77201	1.318000	0.45170	0.383000	0.25322	GAC		0.726	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			4	2	0	0	0	1	0	4	2					A	176944857	T	A	176944857	3	1	35	1	0	0	0	0	1	0	0	0	5297	1667	58	4	23	4	EVX2	2	176944857	Missense_Mutation	SNP	T	TCGA-N9-A4Q3-01A-11D-A28R-08	6886654	176944857	66254516	9	3273										
MLH1	4292	broad.mit.edu	37	chr3	37067374	37067374	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	gcagggctaggcagcaagatGaggagatgcttgaactccca	14	9	0	4			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr3:37067374G>A	ENST00000231790.2	+	12	1501	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	MLH1_ENST00000458205.2_Missense_Mutation_p.E188K|MLH1_ENST00000536378.1_Missense_Mutation_p.E188K|MLH1_ENST00000539477.1_Missense_Mutation_p.E188K|MLH1_ENST00000455445.2_Missense_Mutation_p.E188K|MLH1_ENST00000435176.1_Missense_Mutation_p.E331K	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	429	Interaction with EXO1.				ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GCAGCAAGATGAGGAGATGCT	0.517		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	"D, Mis, N, F, S"	E.coli MutL homolog gene			"E, O"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						c.(1285-1287)Gag>Aag	Mismatch excision repair (MMR)	mutL homolog 1							87	91	90					3																	37067374		2203	4300	6503	SO:0001583	missense	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37067374G>A	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)", "mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1285G>A	3.37:g.37067374G>A	ENSP00000231790:p.Glu429Lys		Somatic				MLH1_ENST00000435176.1_Missense_Mutation_p.E331K|MLH1_ENST00000536378.1_Missense_Mutation_p.E188K|MLH1_ENST00000455445.2_Missense_Mutation_p.E188K|MLH1_ENST00000539477.1_Missense_Mutation_p.E188K|MLH1_ENST00000458205.2_Missense_Mutation_p.E188K	p.E429K	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	WXS	Illumina GAIIx	Phase_I	P40692	MLH1_HUMAN			12	1501	+			429			Interaction with EXO1.		B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.1285G>A	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.216|9.216	1.032273|1.032273	0.19590|0.19590	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000383761;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378|ENST00000456676	D;D;D;D;D;D|.	0.89196|.	-2.48;-2.48;-2.48;-2.48;-2.48;-2.48|.	4.98|4.98	3.16|3.16	0.36331|0.36331	.|.	0.230384|.	0.41823|.	N|.	0.000809|.	T|T	0.23688|0.23688	0.0573|0.0573	N|N	0.22421|0.22421	0.69|0.69	0.27313|0.27313	N|N	0.957243|0.957243	B;B;B;B;B;B|.	0.22983|.	0.004;0.045;0.078;0.045;0.004;0.004|.	B;B;B;B;B;B|.	0.18263|.	0.003;0.021;0.021;0.021;0.003;0.013|.	T|T	0.18808|0.18808	-1.0325|-1.0325	10|5	0.09843|.	T|.	0.71|.	-13.6046|-13.6046	5.3974|5.3974	0.16276|0.16276	0.0732:0.262:0.5298:0.1349|0.0732:0.262:0.5298:0.1349	.|.	331;331;188;188;429;429|.	E9PCU2;B4DQ11;B7Z821;B4DI13;Q53GX1;P40692|.	.;.;.;.;.;MLH1_HUMAN|.	K|I	429;293;188;188;188;331;188|420	ENSP00000231790:E429K;ENSP00000402667:E188K;ENSP00000443665:E188K;ENSP00000398272:E188K;ENSP00000402564:E331K;ENSP00000444286:E188K|.	ENSP00000231790:E429K|.	E|M	+|+	1|3	0|0	MLH1|MLH1	37042378|37042378	0.991000|0.991000	0.36638|0.36638	0.969000|0.969000	0.41365|0.41365	0.954000|0.954000	0.61252|0.61252	0.841000|0.841000	0.27613|0.27613	0.777000|0.777000	0.33496|0.33496	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.517	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		6	150	0	0	0	1	0	6	150					A	37067374	G	A	37067374	3	1	35	1	0	0	0	0	1	0	0	0	9626	1291	45	3	1331	3	MLH1	3	37067374	Missense_Mutation	SNP	G	TCGA-N9-A4Q3-01A-11D-A28R-08		37067374	160955056	10	3274										
PROS1	5627	broad.mit.edu	37	chr3	93603724	93603724	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	tccagcttcgtatacatccaTctagacgagggttaatctaa	7	10	2	1			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr3:93603724T>C	ENST00000394236.3	-	12	1656	c.1340A>G	c.(1339-1341)gAt>gGt	p.D447G	PROS1_ENST00000407433.1_Missense_Mutation_p.D316G	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	447	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)	TATACATCCATCTAGACGAGG	0.343																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(1339-1341)gAt>gGt		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						50	46	47					3																	93603724		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.chr3:93603724T>C		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.1340A>G	3.37:g.93603724T>C	ENSP00000377783:p.Asp447Gly		Somatic				PROS1_ENST00000407433.1_Missense_Mutation_p.D316G	p.D447G	NM_000313.3	NP_000304.2	WXS	Illumina GAIIx	Phase_I	P07225	PROS_HUMAN			12	1656	-			447			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1340A>G	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805648	0.70682	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.76709	-1.04;-1.04	3.78	3.78	0.43462	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	0.88724	0.6514	M	0.89478	3.035	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.90548	0.4507	10	0.87932	D	0	.	12.357	0.55182	0.0:0.0:0.0:1.0	.	447	P07225	PROS_HUMAN	G	447;316	ENSP00000377783:D447G;ENSP00000385794:D316G	ENSP00000377783:D447G	D	-	2	0	PROS1	95086414	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.519000	0.81809	1.589000	0.49982	0.459000	0.35465	GAT		0.343	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		10	27	0	0	0	1	0	10	27					C	93603724	T	C	93603724	3	2	35	1	0	0	0	0	1	0	0	0	12570	1435	50	4	706	4	PROS1	3	93603724	Missense_Mutation	SNP	T	TCGA-N9-A4Q3-01A-11D-A28R-08	56536350	93603724	104418706	11	3275										
GPR128	84873	broad.mit.edu	37	chr3	100364805	100364805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	atagattacaccaagacatgCggctttgtagtttatcaaaa	7	7	1	2			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr3:100364805C>T	ENST00000273352.3	+	9	1231	c.963C>T	c.(961-963)tgC>tgT	p.C321C	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Silent_p.C26C	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	321					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						CCAAGACATGCGGCTTTGTAG	0.308																																					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.(961-963)tgC>tgT		G protein-coupled receptor 128							71	67	68					3																	100364805		2202	4299	6501	SO:0001819	synonymous_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100364805C>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.963C>T	3.37:g.100364805C>T			Somatic				GPR128_ENST00000475887.1_Silent_p.C26C	p.C321C	NM_032787.2	NP_116176.2	WXS	Illumina GAIIx	Phase_I	Q96K78	GP128_HUMAN			9	1231	+			321					Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	c.963C>T	CCDS2938.1																																																																																				0.308	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			13	20	0	0	0	1	0	13	20					T	100364805	C	T	100364805	2	4	35	1	0	0	0	0	0	0	0	1	6649	776	27	1		1	GPR128	3	100364805	Silent	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08	6761081	100364805	97657625	12	3276										
ATR	545	broad.mit.edu	37	chr3	142168367	142168367	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	acatgtccttcaatagataaCggcagtcctgtcactctatt	6	11	3	1	rs371176601		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr3:142168367C>T	ENST00000350721.4	-	47	7960	c.7839G>A	c.(7837-7839)ccG>ccA	p.P2613P	ATR_ENST00000383101.3_Silent_p.P2549P|XRN1_ENST00000465074.1_5'Flank|XRN1_ENST00000544157.1_5'Flank|XRN1_ENST00000392981.2_5'Flank|XRN1_ENST00000463916.1_5'Flank|XRN1_ENST00000264951.4_5'Flank	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2613	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				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						CAATAGATAACGGCAGTCCTG	0.398								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.(7837-7839)ccG>ccA	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related		C		1,4405	2.1+/-5.4	0,1,2202	125	113	117		7839	-10.9	0.5	3		117	0,8600		0,0,4300	no	coding-synonymous	ATR	NM_001184.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		2613/2645	142168367	1,13005	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.chr3:142168367C>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.7839G>A	3.37:g.142168367C>T			Somatic				ATR_ENST00000383101.3_Silent_p.P2549P	p.P2613P	NM_001184.3	NP_001175.2	WXS	Illumina GAIIx	Phase_I	Q13535	ATR_HUMAN			47	7960	-			2613			FATC.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.7839G>A	CCDS3124.1																																																																																				0.398	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		19	18	0	0	0	1	0	19	18					T	142168367	C	T	142168367	2	4	35	1	0	0	0	0	0	0	0	1	1204	523	19	1		1	ATR	3	142168367	Silent	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08	41803562	142168367	55854063	13	3277										
LMBRD2	92255	broad.mit.edu	37	chr5	36118007	36118007	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	ccatggtcgcaaaagacattCccagtaccattctagaagac	7	12	1	3			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr5:36118007C>A	ENST00000296603.4	-	10	1594	c.1132G>T	c.(1132-1134)Gaa>Taa	p.E378*		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	378						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAGACATTCCCAGTACCAT	0.358																																						ENST00000296603.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1132-1134)Gaa>Taa		LMBR1 domain containing 2							94	85	88					5																	36118007		2203	4300	6503	SO:0001587	stop_gained	92255					integral to membrane		g.chr5:36118007C>A		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.1132G>T	5.37:g.36118007C>A	ENSP00000296603:p.Glu378*		Somatic					p.E378*	NM_001007527.1	NP_001007528.1	WXS	Illumina GAIIx	Phase_I	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1594	-	all_lung(31;0.000146)		378					B3KRB6|Q9NTC7	Nonsense_Mutation	SNP	ENST00000296603.4	37	c.1132G>T	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	C	43	9.840219	0.99276	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-17.1482	19.2418	0.93887	0.0:1.0:0.0:0.0	.	.	.	.	X	378;272	.	ENSP00000296603:E378X	E	-	1	0	LMBRD2	36153764	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.541000	0.85698	0.650000	0.86243	GAA		0.358	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		22	7	1	0	6.33239e-15	1	6.98746e-15	22	7					A	36118007	C	A	36118007	4	1	35	1	0	0	0	0	0	1	0	0	8852	864	30	2	991	2	LMBRD2	5	36118007	Nonsense_Mutation	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08		36118007	144797253	14	3278										
RANBP17	64901	broad.mit.edu	37	chr5	170648770	170648770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	tatatttcttagatcccagcGtttgaattttgatgtatcat	6	6	2	3	rs201284839		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr5:170648770G>A	ENST00000523189.1	+	22	2512	c.2348G>A	c.(2347-2349)cGt>cAt	p.R783H	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	783					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)			AGATCCCAGCGTTTGAATTTT	0.328			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.(2347-2349)cGt>cAt		RAN binding protein 17		G	HIS/ARG	0,4404		0,0,2202	97	94	95		2348	5.8	1	5		95	1,8595	1.2+/-3.3	0,1,4297	yes	missense	RANBP17	NM_022897.3	29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	783/1089	170648770	1,12999	2202	4298	6500	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170648770G>A	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2348G>A	5.37:g.170648770G>A	ENSP00000427975:p.Arg783His		Somatic				RANBP17_ENST00000521759.1_3'UTR	p.R783H	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)		22	2512	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	783					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.2348G>A	CCDS34287.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.4	4.279619	0.80692	0.0	1.16E-4	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.53206	0.63	5.85	5.85	0.93711	Armadillo-type fold (1);	0.100897	0.44483	D	0.000448	T	0.75744	0.3891	M	0.93854	3.465	0.38764	D	0.954382	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82448	-0.0452	10	0.62326	D	0.03	-10.9111	13.5768	0.61879	0.0734:0.0:0.9266:0.0	.	783;783	Q546R4;Q9H2T7	.;RBP17_HUMAN	H	783;213	ENSP00000427975:R783H	ENSP00000427975:R783H	R	+	2	0	RANBP17	170581375	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.367000	0.73099	2.773000	0.95371	0.655000	0.94253	CGT		0.328	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		3	30	0	0	0	1	0	3	30					A	170648770	G	A	170648770	3	1	35	1	0	0	0	0	1	0	0	0	13042	1145	40	1	2434	1	RANBP17	5	170648770	Missense_Mutation	SNP	G	TCGA-N9-A4Q3-01A-11D-A28R-08	134530763	170648770	10266490	15	3279										
DGKB	1607	broad.mit.edu	37	chr7	14517813	14517813	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	tgaatttctctgggtgttttTctctcatgatgtggaatctg	10	6	4	2			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr7:14517813T>C	ENST00000403951.2	-	21	2230	c.1811A>G	c.(1810-1812)gAa>gGa	p.E604G	DGKB_ENST00000402815.1_Missense_Mutation_p.E603G|DGKB_ENST00000399322.3_Missense_Mutation_p.E604G|DGKB_ENST00000406247.3_Missense_Mutation_p.E604G|DGKB_ENST00000407950.1_Missense_Mutation_p.E596G|DGKB_ENST00000258767.5_Missense_Mutation_p.E604G|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.E585G			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	604					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TGGGTGTTTTTCTCTCATGAT	0.343																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1810-1812)gAa>gGa		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						101	91	94					7																	14517813		1825	4103	5928	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14517813T>C	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1811A>G	7.37:g.14517813T>C	ENSP00000385780:p.Glu604Gly		Somatic				DGKB_ENST00000402815.1_Missense_Mutation_p.E603G|DGKB_ENST00000399322.3_Missense_Mutation_p.E604G|DGKB_ENST00000444700.2_Missense_Mutation_p.E585G|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.E604G|DGKB_ENST00000407950.1_Missense_Mutation_p.E596G|DGKB_ENST00000406247.3_Missense_Mutation_p.E604G	p.E604G			WXS	Illumina GAIIx	Phase_I	Q9Y6T7	DGKB_HUMAN			21	2230	-			604					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1811A>G	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.613283	0.87359	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	6.07	6.07	0.98685	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.67627	0.2913	M	0.89715	3.055	0.51012	D	0.999901	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;0.996;0.999	T	0.74864	-0.3519	10	0.87932	D	0	.	15.2061	0.73180	0.0:0.0:0.0:1.0	.	603;585;604;604	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	G	604;604;604;603;596;585;604	ENSP00000385780:E604G;ENSP00000382260:E604G;ENSP00000258767:E604G;ENSP00000384909:E603G;ENSP00000385031:E596G;ENSP00000388451:E585G;ENSP00000386066:E604G	ENSP00000258767:E604G	E	-	2	0	DGKB	14484338	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.532000	0.73825	2.330000	0.79161	0.477000	0.44152	GAA		0.343	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		4	5	0	0	0	1	0	4	5					C	14517813	T	C	14517813	3	2	35	1	0	0	0	0	1	0	0	0	4468	1783	62	4	642	4	DGKB	7	14517813	Missense_Mutation	SNP	T	TCGA-N9-A4Q3-01A-11D-A28R-08		14517813	144620850	16	3280										
FERD3L	222894	broad.mit.edu	37	chr7	19184612	19184612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	caaacgtgggcaccttcctcCgcagctggtcaaaggcctcg	11	15	1	0			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr7:19184612C>T	ENST00000275461.3	-	1	432	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	125	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CACCTTCCTCCGCAGCTGGTC	0.587																																						ENST00000275461.3																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						c.(373-375)cGg>cAg		Fer3-like bHLH transcription factor							117	91	100					7																	19184612		2203	4300	6503	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184612C>T	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.374G>A	7.37:g.19184612C>T	ENSP00000275461:p.Arg125Gln		Somatic				AC003986.5_ENST00000452700.1_RNA	p.R125Q	NM_152898.2	NP_690862.1	WXS	Illumina GAIIx	Phase_I	Q96RJ6	FER3L_HUMAN			1	432	-			125			Helix-loop-helix motif.		Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.374G>A	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	C	36	5.692697	0.96793	.	.	ENSG00000146618	ENST00000275461	D	0.98531	-4.98	5.66	5.66	0.87406	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99070	0.9681	M	0.85099	2.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99771	1.1024	10	0.87932	D	0	-15.8053	19.751	0.96268	0.0:1.0:0.0:0.0	.	125	Q96RJ6	FER3L_HUMAN	Q	125	ENSP00000275461:R125Q	ENSP00000275461:R125Q	R	-	2	0	FERD3L	19151137	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.818000	0.86416	2.693000	0.91896	0.650000	0.86243	CGG		0.587	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			27	20	0	0	0	1	0	27	20					T	19184612	C	T	19184612	3	4	35	1	0	0	0	0	1	0	0	0	5824	652	23	1	130	1	FERD3L	7	19184612	Missense_Mutation	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08	4666799	19184612	139954051	17	3281										
CLIP2	7461	broad.mit.edu	37	chr7	73811495	73811495	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	gccgtgaggtacacaaggctGagtggcggatcaaggagcag	17	8	1	2			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr7:73811495G>C	ENST00000395060.1	+	13	2812	c.2812G>C	c.(2812-2814)Gag>Cag	p.E938Q	CLIP2_ENST00000361545.5_Missense_Mutation_p.E903Q|CLIP2_ENST00000223398.6_Missense_Mutation_p.E938Q			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	938						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						ACACAAGGCTGAGTGGCGGAT	0.637																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(2812-2814)Gag>Cag		CAP-GLY domain containing linker protein 2							100	91	94					7																	73811495		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73811495G>C	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2812G>C	7.37:g.73811495G>C	ENSP00000378500:p.Glu938Gln		Somatic				CLIP2_ENST00000395060.1_Missense_Mutation_p.E938Q|CLIP2_ENST00000361545.5_Missense_Mutation_p.E903Q	p.E938Q	NM_003388.4	NP_003379.3	WXS	Illumina GAIIx	Phase_I	Q9UDT6	CLIP2_HUMAN			14	3139	+			938					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.2812G>C	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515461	0.85389	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.70749	-0.47;-0.51;-0.47	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.76371	0.3978	L	0.29908	0.895	0.54753	D	0.999981	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.79055	-0.1960	10	0.56958	D	0.05	-30.5801	15.8489	0.78912	0.0:0.0:1.0:0.0	.	903;938	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	Q	938;938;903;938	ENSP00000223398:E938Q;ENSP00000355151:E903Q;ENSP00000378500:E938Q	ENSP00000223398:E938Q	E	+	1	0	CLIP2	73449431	1.000000	0.71417	0.994000	0.49952	0.871000	0.50021	8.970000	0.93415	2.081000	0.62600	0.561000	0.74099	GAG		0.637	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		13	101	0	0	0	1	0	13	101					C	73811495	G	C	73811495	3	2	35	1	0	0	0	0	1	0	0	0	3535	1291	45	2	2862	2	CLIP2	7	73811495	Missense_Mutation	SNP	G	TCGA-N9-A4Q3-01A-11D-A28R-08	54626883	73811495	85327168	18	3282										
FER1L6	654463	broad.mit.edu	37	chr8	124985750	124985750	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	ggggaccgtgtacaaccaacCtggtaagaaaacatcacctc	9	12	1	1			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr8:124985750C>G	ENST00000522917.1	+	7	730	c.524C>G	c.(523-525)cCt>cGt	p.P175R	FER1L6_ENST00000399018.1_Missense_Mutation_p.P175R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	175						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)			TACAACCAACCTGGTAAGAAA	0.468																																						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.(523-525)cCt>cGt		fer-1-like 6 (C. elegans)							160	162	162					8																	124985750		1960	4157	6117	SO:0001583	missense	654463					integral to membrane		g.chr8:124985750C>G	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.524C>G	8.37:g.124985750C>G	ENSP00000428280:p.Pro175Arg		Somatic				FER1L6_ENST00000399018.1_Missense_Mutation_p.P175R	p.P175R	NM_001039112.2	NP_001034201.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		7	730	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		175						Missense_Mutation	SNP	ENST00000522917.1	37	c.524C>G	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829502	0.71258	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.84223	-1.82;-1.82	5.89	5.89	0.94794	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);FerIin domain (1);	0.000000	0.64402	U	0.000002	D	0.94056	0.8095	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94280	0.7519	10	0.87932	D	0	.	20.2576	0.98430	0.0:1.0:0.0:0.0	.	175	Q2WGJ9	FR1L6_HUMAN	R	175	ENSP00000428280:P175R;ENSP00000381982:P175R	ENSP00000381982:P175R	P	+	2	0	FER1L6	125054931	1.000000	0.71417	0.998000	0.56505	0.278000	0.26855	7.562000	0.82300	2.783000	0.95769	0.655000	0.94253	CCT		0.468	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		6	33	0	0	0	1	0	6	33					G	124985750	C	G	124985750	3	3	35	1	0	0	0	0	1	0	0	0	5823	681	24	5	546	5	FER1L6	8	124985750	Missense_Mutation	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08		124985750	21378272	19	3283										
CYP26A1	1592	broad.mit.edu	37	chr10	94836425	94836425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	cccagttccaggagggtttcGggttgctctgaagacttttg	13	9	1	2			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr10:94836425G>A	ENST00000224356.4	+	6	1169	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	CYP26A1_ENST00000371531.1_Missense_Mutation_p.R306Q|CYP26A1_ENST00000394139.1_Missense_Mutation_p.R306Q	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	375					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	GGAGGGTTTCGGGTTGCTCTG	0.403																																						ENST00000371531.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(916-918)cGg>cAg		cytochrome P450, family 26, subfamily A, polypeptide 1							85	87	86					10																	94836425		2203	4300	6503	SO:0001583	missense	0				negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94836425G>A	AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"Cytochrome P450s"	2603	protein-coding gene	gene with protein product		602239	"cytochrome P450, subfamily XXVIA, polypeptide 1"			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.1124G>A	10.37:g.94836425G>A	ENSP00000224356:p.Arg375Gln		Somatic				CYP26A1_ENST00000224356.4_Missense_Mutation_p.R375Q|CYP26A1_ENST00000394139.1_Missense_Mutation_p.R306Q	p.R306Q	NM_057157.2	NP_476498.1	WXS	Illumina GAIIx	Phase_I	O43174	CP26A_HUMAN			6	1295	+		Colorectal(252;0.122)	375					B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	c.917G>A	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556942	0.86231	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.80824	-1.42;-1.42;-1.42	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.92704	0.7681	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94646	0.7835	10	0.87932	D	0	-18.2743	18.1981	0.89829	0.0:0.0:1.0:0.0	.	306;375	B3KNI4;O43174	.;CP26A_HUMAN	Q	306;375;306	ENSP00000360586:R306Q;ENSP00000224356:R375Q;ENSP00000377695:R306Q	ENSP00000224356:R375Q	R	+	2	0	CYP26A1	94826415	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.069000	0.93967	2.528000	0.85240	0.555000	0.69702	CGG		0.403	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3			15	40	0	0	0	1	0	15	40					A	94836425	G	A	94836425	3	1	35	1	0	0	0	0	1	0	0	0	4157	1116	39	1	1146	1	CYP26A1	10	94836425	Missense_Mutation	SNP	G	TCGA-N9-A4Q3-01A-11D-A28R-08		94836425	40698322	20	3284										
IGHMBP2	3508	broad.mit.edu	37	chr11	68700847	68700847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	gagggtggtgcggacactgaCggtgcagtaccgcatgcacc	16	11	0	1	rs373649545		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr11:68700847C>T	ENST00000255078.3	+	9	1427	c.1316C>T	c.(1315-1317)aCg>aTg	p.T439M		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	439					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGGACACTGACGGTGCAGTAC	0.642																																						ENST00000255078.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1315-1317)aCg>aTg		immunoglobulin mu binding protein 2		C	MET/THR	0,4400		0,0,2200	88	57	67		1316	1.9	0	11		67	1,8587	1.2+/-3.3	0,1,4293	no	missense	IGHMBP2	NM_002180.2	81	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	439/994	68700847	1,12987	2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68700847C>T	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1316C>T	11.37:g.68700847C>T	ENSP00000255078:p.Thr439Met		Somatic					p.T439M	NM_002180.2	NP_002171.2	WXS	Illumina GAIIx	Phase_I	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		9	1427	+			439					A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.1316C>T	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316441	0.40996	0.0	1.16E-4	ENSG00000132740	ENST00000255078	D	0.92752	-3.1	4.92	1.92	0.25849	DEAD-like helicase (1);	0.058989	0.64402	D	0.000002	D	0.94785	0.8316	M	0.92317	3.295	0.80722	D	1	D	0.60160	0.987	P	0.52424	0.698	D	0.93494	0.6838	10	0.62326	D	0.03	-8.8132	10.4923	0.44758	0.1409:0.5872:0.2719:0.0	.	439	P38935	SMBP2_HUMAN	M	439	ENSP00000255078:T439M	ENSP00000255078:T439M	T	+	2	0	IGHMBP2	68457423	0.996000	0.38824	0.018000	0.16275	0.013000	0.08279	3.473000	0.53122	0.107000	0.17824	-0.181000	0.13052	ACG		0.642	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		5	14	0	0	0	1	0	5	14					T	68700847	C	T	68700847	3	4	35	1	0	0	0	0	1	0	0	0	7600	536	19	1	1350	1	IGHMBP2	11	68700847	Missense_Mutation	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08		68700847	66305669	21	3285										
SERPINH1	871	broad.mit.edu	37	chr11	75282848	75282848	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	acacctggctgggctgggccTgactgaggccattgacaaga	14	11	0	4			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr11:75282848T>G	ENST00000524558.1	+	5	2412	c.977T>G	c.(976-978)cTg>cGg	p.L326R	SERPINH1_ENST00000533603.1_Missense_Mutation_p.L326R|SERPINH1_ENST00000525876.1_Missense_Mutation_p.L109R|SERPINH1_ENST00000358171.3_Missense_Mutation_p.L326R			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	326					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GGGCTGGGCCTGACTGAGGCC	0.597																																						ENST00000524558.1																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15						c.(976-978)cTg>cGg		serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)							51	41	45					11																	75282848		2200	4293	6493	SO:0001583	missense	871				regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	g.chr11:75282848T>G	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"Serine (or cysteine) peptidase inhibitors"	1546	protein-coding gene	gene with protein product		600943	"serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2", "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.977T>G	11.37:g.75282848T>G	ENSP00000434412:p.Leu326Arg		Somatic				SERPINH1_ENST00000525876.1_Missense_Mutation_p.L109R|SERPINH1_ENST00000358171.3_Missense_Mutation_p.L326R|SERPINH1_ENST00000533603.1_Missense_Mutation_p.L326R	p.L326R			WXS	Illumina GAIIx	Phase_I	P50454	SERPH_HUMAN			5	2412	+	Ovarian(111;0.11)		326					B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Missense_Mutation	SNP	ENST00000524558.1	37	c.977T>G	CCDS8239.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615038	0.87359	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000421448;ENST00000524558;ENST00000525876	D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08	5.27	5.27	0.74061	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.93154	0.7820	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93953	0.7233	10	0.87932	D	0	.	13.431	0.61055	0.0:0.0:0.0:1.0	.	326	P50454	SERPH_HUMAN	R	326;326;305;326;109	ENSP00000434657:L326R;ENSP00000350894:L326R;ENSP00000434412:L326R;ENSP00000433532:L109R	ENSP00000350894:L326R	L	+	2	0	SERPINH1	74960496	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.117000	0.64856	0.459000	0.35465	CTG		0.597	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		23	17	0	0	0	1	0	23	17					G	75282848	T	G	75282848	3	3	35	1	0	0	0	0	1	0	0	0	14132	1580	55	4	991	4	SERPINH1	11	75282848	Missense_Mutation	SNP	T	TCGA-N9-A4Q3-01A-11D-A28R-08	6582001	75282848	59723668	22	3286										
VWF	7450	broad.mit.edu	37	chr12	6105256	6105256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	gccttgctccagggctgcagGcaccattatggagaatcacc	11	13	1	1			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr12:6105256G>A	ENST00000261405.5	-	35	6229	c.5975C>T	c.(5974-5976)gCc>gTc	p.A1992V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1992	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)	AGGGCTGCAGGCACCATTATG	0.522																																						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.(5974-5976)gCc>gTc		von Willebrand factor	Antihemophilic Factor(DB00025)						50	45	46					12																	6105256		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.chr12:6105256G>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.5975C>T	12.37:g.6105256G>A	ENSP00000261405:p.Ala1992Val		Somatic					p.A1992V	NM_000552.3	NP_000543.2	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			35	6229	-			1992			VWFD 4.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.5975C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	5.644	0.303559	0.10678	.	.	ENSG00000110799	ENST00000261405	T	0.59502	0.26	5.55	3.4	0.38934	von Willebrand factor, type D domain (3);	0.380247	0.19260	N	0.118708	T	0.41719	0.1171	L	0.38531	1.155	0.58432	D	0.999997	B	0.15141	0.012	B	0.15052	0.012	T	0.18147	-1.0346	10	0.17832	T	0.49	.	7.3476	0.26672	0.1638:0.0:0.6962:0.1399	.	1992	P04275	VWF_HUMAN	V	1992	ENSP00000261405:A1992V	ENSP00000261405:A1992V	A	-	2	0	VWF	5975517	0.969000	0.33509	0.937000	0.37676	0.170000	0.22686	1.466000	0.35310	1.346000	0.45694	0.655000	0.94253	GCC		0.522	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		4	63	0	0	0	1	0	4	63					A	6105256	G	A	6105256	3	1	35	1	0	0	0	0	1	0	0	0	17261	1203	42	3	2538	3	VWF	12	6105256	Missense_Mutation	SNP	G	TCGA-N9-A4Q3-01A-11D-A28R-08		6105256	127746639	23	3287										
DPPA3	359787	broad.mit.edu	37	chr12	7867853	7867853	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	tcaacgctagtagcgaatctGtttcccctctatcggaagct	8	12	3	0	rs200485546		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr12:7867853G>T	ENST00000345088.2	+	2	274	c.157G>T	c.(157-159)Gtt>Ttt	p.V53F		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	53					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TAGCGAATCTGTTTCCCCTCT	0.468																																						ENST00000345088.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8						c.(157-159)Gtt>Ttt		developmental pluripotency associated 3							76	78	77					12																	7867853		2203	4300	6503	SO:0001583	missense	359787					cytoplasm|nucleus		g.chr12:7867853G>T	AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.157G>T	12.37:g.7867853G>T	ENSP00000339250:p.Val53Phe		Somatic					p.V53F	NM_199286.2	NP_954980.1	WXS	Illumina GAIIx	Phase_I	Q6W0C5	DPPA3_HUMAN		Kidney(36;0.0887)	2	274	+			53					Q0P5U3|Q6JZS6	Missense_Mutation	SNP	ENST00000345088.2	37	c.157G>T	CCDS8582.1	.	.	.	.	.	.	.	.	.	.	G	6.212	0.407305	0.11754	.	.	ENSG00000187569	ENST00000345088	T	0.46451	0.87	2.48	-1.72	0.08107	.	.	.	.	.	T	0.17534	0.0421	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.17961	-1.0352	9	0.66056	D	0.02	0.3498	0.4508	0.00501	0.1972:0.3416:0.1983:0.2628	.	53	Q6W0C5	DPPA3_HUMAN	F	53	ENSP00000339250:V53F	ENSP00000339250:V53F	V	+	1	0	DPPA3	7759120	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.349000	0.07731	-0.452000	0.07087	-1.277000	0.01392	GTT		0.468	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286		28	98	1	0	4.87955e-14	1	5.29308e-14	28	98					T	7867853	G	T	7867853	3	4	35	1	0	0	0	0	1	0	0	0	4737	1377	48	5	163	5	DPPA3	12	7867853	Missense_Mutation	SNP	G	TCGA-N9-A4Q3-01A-11D-A28R-08	1762597	7867853	125984042	24	3288										
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	WXS	Illumina GAIIx	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		9	7	1	0	3.86212e-05	1	3.9867e-05	9	7					A	25398284	C	A	25398284	3	1	35	1	0	0	0	0	1	0	0	0	8447	507	18	5	671	5	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08	17530431	25398284	108453611	25	3289										
FNDC3A	22862	broad.mit.edu	37	chr13	49772644	49772644	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	taagctgaaatggggagaagGaactccaaagacattgtcaa	11	6	1	3			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr13:49772644G>T	ENST00000492622.2	+	23	3226	c.2921G>T	c.(2920-2922)gGa>gTa	p.G974V	FNDC3A_ENST00000541916.1_Missense_Mutation_p.G974V|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G918V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	974	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGGGGAGAAGGAACTCCAAAG	0.403																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(2920-2922)gGa>gTa		fibronectin type III domain containing 3A							129	116	121					13																	49772644		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49772644G>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.2921G>T	13.37:g.49772644G>T	ENSP00000417257:p.Gly974Val		Somatic				FNDC3A_ENST00000541916.1_Missense_Mutation_p.G974V|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G918V	p.G974V	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)	23	3226	+		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)	974			Fibronectin type-III 8.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.2921G>T	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746113	0.69418	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.56103	0.48;0.48;0.48	6.06	6.06	0.98353	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.59293	0.2183	M	0.66378	2.025	0.80722	D	1	P;P	0.45531	0.86;0.621	B;P	0.44897	0.43;0.463	T	0.56257	-0.8009	10	0.34782	T	0.22	-9.8051	19.6279	0.95687	0.0:0.0:1.0:0.0	.	918;974	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	V	974;910;974;918	ENSP00000417257:G974V;ENSP00000441831:G974V;ENSP00000381362:G918V	ENSP00000338579:G910V	G	+	2	0	FNDC3A	48670645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.880000	0.98712	0.650000	0.86243	GGA		0.403	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		21	50	1	0	1.87028e-06	1	1.96226e-06	21	50					T	49772644	G	T	49772644	3	4	35	1	0	0	0	0	1	0	0	0	5977	1174	41	2	3018	2	FNDC3A	13	49772644	Missense_Mutation	SNP	G	TCGA-N9-A4Q3-01A-11D-A28R-08		49772644	65397234	26	3290										
PIBF1	10464	broad.mit.edu	37	chr13	73357694	73357694	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	attagtttagaaacaacagtTcctacggatgatatttcctc	6	8	0	2			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr13:73357694T>C	ENST00000326291.6	+	2	425	c.87T>C	c.(85-87)gtT>gtC	p.V29V	DIS3_ENST00000377780.4_5'Flank|DIS3_ENST00000475871.1_5'Flank|DIS3_ENST00000377767.4_5'Flank|DIS3_ENST00000545453.1_5'Flank	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	29						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)		AAACAACAGTTCCTACGGATG	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.(85-87)gtT>gtC		progesterone immunomodulatory binding factor 1							79	83	82					13																	73357694		2203	4300	6503	SO:0001819	synonymous_variant	10464					centrosome		g.chr13:73357694T>C	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.87T>C	13.37:g.73357694T>C			Somatic					p.V29V	NM_006346.2	NP_006337.2	WXS	Illumina GAIIx	Phase_I	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	2	425	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	29					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Silent	SNP	ENST00000326291.6	37	c.87T>C	CCDS31991.1																																																																																				0.348	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		16	74	0	0	0	1	0	16	74					C	73357694	T	C	73357694	2	2	35	1	0	0	0	0	0	0	0	1	11888	1770	62	4		4	PIBF1	13	73357694	Silent	SNP	T	TCGA-N9-A4Q3-01A-11D-A28R-08	23585050	73357694	41812184	27	3291										
CDC42BPB	9578	broad.mit.edu	37	chr14	103418917	103418917	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	gtagggctggagaaggacttGatgctgaactggtgagcttt	16	5	0	4			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr14:103418917G>C	ENST00000361246.2	-	24	3378	c.3090C>G	c.(3088-3090)atC>atG	p.I1030M		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)		AGAAGGACTTGATGCTGAACT	0.547																																						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.(3088-3090)atC>atG		CDC42 binding protein kinase beta (DMPK-like)							132	113	119					14																	103418917		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.chr14:103418917G>C	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.3090C>G	14.37:g.103418917G>C	ENSP00000355237:p.Ile1030Met		Somatic					p.I1030M	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)	24	3378	-		Melanoma(154;0.155)	1030						Missense_Mutation	SNP	ENST00000361246.2	37	c.3090C>G	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798327	0.70567	.	.	ENSG00000198752	ENST00000361246;ENST00000541396	D	0.92805	-3.11	5.63	5.63	0.86233	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.046857	0.85682	D	0.000000	D	0.92280	0.7551	N	0.25789	0.76	0.80722	D	1	P;B	0.36633	0.562;0.363	P;P	0.53988	0.739;0.653	D	0.92312	0.5858	10	0.72032	D	0.01	.	14.8408	0.70223	0.0:0.0:0.8562:0.1438	.	1030;1030	A9JR72;Q9Y5S2	.;MRCKB_HUMAN	M	1030;141	ENSP00000355237:I1030M	ENSP00000355237:I1030M	I	-	3	3	CDC42BPB	102488670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.695000	0.54749	2.815000	0.96918	0.561000	0.74099	ATC		0.547	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		7	16	0	0	0	1	0	7	16					C	103418917	G	C	103418917	3	2	35	1	0	0	0	0	1	0	0	0	3075	1280	45	2	2101	2	CDC42BPB	14	103418917	Missense_Mutation	SNP	G	TCGA-N9-A4Q3-01A-11D-A28R-08		103418917	3930623	28	3292										
TP53	7157	broad.mit.edu	37	chr17	7579591	7579591	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	gcttgggacggcaagggggaCtgtagatgggtgaaaagagc	19	5	0	3			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:7579591C>G	ENST00000269305.4	-	4	286		c.e4-1		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|TP53_ENST00000413465.2_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.?(8)|p.0?(8)|p.L35fs*10(3)|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)	GCAAGGGGGACTGTAGATGGG	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	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(1)	bone(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|pancreas(3)|upper_aerodigestive_tract(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(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	GRCh37	CS971912	TP53	S		c.e4-1	Other conserved DNA damage response genes	tumor protein p53							141	137	138					17																	7579591		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.chr17:7579591C>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.97-1G>C	17.37:g.7579591C>G		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_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_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	.	.	.	.	.	.	.	.	.	.	C	6.036	0.374935	0.11409	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	2.49	2.49	0.30216	.	.	.	.	.	.	.	.	.	.	.	0.40870	D	0.9839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6143	0.33822	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520316	0.879000	0.30193	0.021000	0.16686	0.027000	0.11550	1.937000	0.40193	1.730000	0.51580	0.561000	0.74099	.		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	54	18	0	0	0	1	0	54	18					G	7579591	C	G	7579591	5	3	35	1	0	0	0	0	0	0	1	0	16396	579	20	5	1206	5	TP53	17	7579591	Splice_Site	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08		7579591	73615619	29	3293										
PSMD11	5717	broad.mit.edu	37	chr17	30806375	30806375	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	gaatctgatccgagtcattgAgcctttttccagagtacagg	10	9	2	3	rs1803015		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:30806375A>G	ENST00000261712.3	+	10	1282	c.1019A>G	c.(1018-1020)gAg>gGg	p.E340G	PSMD11_ENST00000457654.2_Missense_Mutation_p.E340G	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	340	PCI.				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 assembly (GO:0043248)|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)|stem cell differentiation (GO:0048863)|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)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			CGAGTCATTGAGCCTTTTTCC	0.507																																					Ovarian(130;1038 1716 9294 11987 19279)	ENST00000261712.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(1018-1020)gAg>gGg		proteasome (prosome, macropain) 26S subunit, non-ATPase, 11							124	120	122					17																	30806375		2203	4300	6503	SO:0001583	missense	5717				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	protein binding	g.chr17:30806375A>G	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"Proteasome (prosome, macropain) subunits"	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.1019A>G	17.37:g.30806375A>G	ENSP00000261712:p.Glu340Gly		Somatic				PSMD11_ENST00000457654.2_Missense_Mutation_p.E340G	p.E340G	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	WXS	Illumina GAIIx	Phase_I	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		10	1282	+		Breast(31;0.159)|Ovarian(249;0.182)	340			PCI.		A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	c.1019A>G	CCDS11272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.6|25.6	4.652195|4.652195	0.88056|0.88056	.|.	.|.	ENSG00000108671|ENSG00000108671	ENST00000261712|ENST00000457654	T|.	0.32753|.	1.44|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86920|.	0.6049|.	H|H	0.96269|0.96269	3.795|3.795	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|.	0.90627|.	0.4564|.	10|.	0.87932|.	D|.	0|.	-10.6125|-10.6125	13.4494|13.4494	0.61161|0.61161	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	rs1803015|rs1803015	340|.	O00231|.	PSD11_HUMAN|.	G|W	340|77	ENSP00000261712:E340G|.	ENSP00000261712:E340G|.	E|X	+|+	2|3	0|0	PSMD11|PSMD11	27830488|27830488	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.984000|0.984000	0.73092|0.73092	9.139000|9.139000	0.94554|0.94554	2.279000|2.279000	0.76181|0.76181	0.459000|0.459000	0.35465|0.35465	GAG|TGA		0.507	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815		76	8	0	0	0	1	0	76	8					G	30806375	A	G	30806375	3	3	35	1	0	0	0	0	1	0	0	0	12706	304	11	4	1057	4	PSMD11	17	30806375	Missense_Mutation	SNP	A	TCGA-N9-A4Q3-01A-11D-A28R-08	23226784	30806375	50388835	30	3294										
KRT33B	3884	broad.mit.edu	37	chr17	39521743	39521743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	acctggttcaggtccacagcGggagcagcgtccacctccac	11	16	1	0			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:39521743G>A	ENST00000251646.3	-	4	700	c.651C>T	c.(649-651)ccC>ccT	p.P217P		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	217	Linker 12.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GGTCCACAGCGGGAGCAGCGT	0.562																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(649-651)ccC>ccT		keratin 33B							70	67	68					17																	39521743		2191	4300	6491	SO:0001819	synonymous_variant	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521743G>A	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.651C>T	17.37:g.39521743G>A			Somatic					p.P217P	NM_002279.4	NP_002270.1	WXS	Illumina GAIIx	Phase_I	Q14525	KT33B_HUMAN			4	700	-		Breast(137;0.000496)	217			Linker 12.|Rod.		O76010	Silent	SNP	ENST00000251646.3	37	c.651C>T	CCDS11389.1																																																																																				0.562	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		5	40	0	0	0	1	0	5	40					A	39521743	G	A	39521743	2	1	35	1	0	0	0	0	0	0	0	1	8479	1103	39	1		1	KRT33B	17	39521743	Silent	SNP	G	TCGA-N9-A4Q3-01A-11D-A28R-08	8715368	39521743	41673467	31	3295										
MPO	4353	broad.mit.edu	37	chr17	56355451	56355451	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	cggggcaagccgggcaggagCggaagaacgggatgcagtcg	20	9	0	1			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:56355451C>A	ENST00000225275.3	-	7	1117	c.941G>T	c.(940-942)cGc>cTc	p.R314L	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000340482.3_Missense_Mutation_p.R346L	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	314					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)	CGGGCAGGAGCGGAAGAACGG	0.622																																						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.(1036-1038)cGc>cTc		myeloperoxidase	Cefdinir(DB00535)						96	88	91					17																	56355451		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.chr17:56355451C>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.941G>T	17.37:g.56355451C>A	ENSP00000225275:p.Arg314Leu		Somatic				MPO_ENST00000225275.3_Missense_Mutation_p.R314L|MPO_ENST00000578493.1_5'UTR	p.R346L			WXS	Illumina GAIIx	Phase_I	P05164	PERM_HUMAN			6	1213	-			314					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1037G>T	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459559	0.96240	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	D;D	0.84660	-1.88;-1.88	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.95726	0.8610	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.97518	1.0071	10	0.87932	D	0	-24.6902	18.0012	0.89198	0.0:1.0:0.0:0.0	.	314	P05164	PERM_HUMAN	L	346;314	ENSP00000344419:R346L;ENSP00000225275:R314L	ENSP00000225275:R314L	R	-	2	0	MPO	53710450	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.046000	0.71029	2.518000	0.84900	0.561000	0.74099	CGC		0.622	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			75	4	1	0	3.83446e-41	1	4.38224e-41	75	4					A	56355451	C	A	56355451	3	1	35	1	0	0	0	0	1	0	0	0	9741	768	27	5	1320	5	MPO	17	56355451	Missense_Mutation	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08	16833708	56355451	24839759	32	3296										
PITPNC1	26207	broad.mit.edu	37	chr17	65688807	65688807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	tccccctgctgccttcttccGtccgcagtgcgccttctagt	8	18	2	0			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:65688807G>A	ENST00000581322.1	+	9	802	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	PITPNC1_ENST00000335257.6_Missense_Mutation_p.V268I|PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	268					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)	p.V268I(2)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GCCTTCTTCCGTCCGCAGTGC	0.557																																						ENST00000335257.6																			2	Substitution - Missense(2)	p.V268I(2)	prostate(1)|lung(1)	breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17						c.(802-804)Gtc>Atc		phosphatidylinositol transfer protein, cytoplasmic 1							121	127	125					17																	65688807		1991	4162	6153	SO:0001583	missense	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65688807G>A	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.802G>A	17.37:g.65688807G>A	ENSP00000464006:p.Val268Ile		Somatic				PITPNC1_ENST00000581322.1_Missense_Mutation_p.V268I|PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR	p.V268I			WXS	Illumina GAIIx	Phase_I	Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		9	1149	+	all_cancers(12;3.03e-10)		268					A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	ENST00000581322.1	37	c.802G>A	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	G	8.254	0.809691	0.16537	.	.	ENSG00000154217	ENST00000335257	T	0.44083	0.93	5.75	3.59	0.41128	.	0.222920	0.47455	D	0.000223	T	0.16811	0.0404	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05257	-1.0896	10	0.34782	T	0.22	-1.2887	4.3035	0.10935	0.3704:0.0:0.6296:0.0	.	268	Q9UKF7	PITC1_HUMAN	I	268	ENSP00000335618:V268I	ENSP00000335618:V268I	V	+	1	0	PITPNC1	63119269	1.000000	0.71417	0.882000	0.34594	0.097000	0.18754	4.034000	0.57289	1.451000	0.47736	-0.136000	0.14681	GTC		0.557	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417		102	15	0	0	0	1	0	102	15					A	65688807	G	A	65688807	3	1	35	1	0	0	0	0	1	0	0	0	11958	1145	40	1	959	1	PITPNC1	17	65688807	Missense_Mutation	SNP	G	TCGA-N9-A4Q3-01A-11D-A28R-08	9333356	65688807	15506403	33	3297										
EMR1	2015	broad.mit.edu	37	chr19	6919630	6919630	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	atgagcgcttcttcaaagacCaccaggctcccttgaccacc	7	16	2	3			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:6919630C>A	ENST00000312053.4	+	13	1529	c.1492C>A	c.(1492-1494)Cac>Aac	p.H498N	EMR1_ENST00000381404.4_Missense_Mutation_p.H446N|EMR1_ENST00000250572.8_Missense_Mutation_p.H498N|EMR1_ENST00000381407.5_Missense_Mutation_p.H357N|EMR1_ENST00000450315.3_Missense_Mutation_p.H321N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	498	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTTCAAAGACCACCAGGCTCC	0.483																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(1492-1494)Cac>Aac		egf-like module containing, mucin-like, hormone receptor-like 1							138	126	130					19																	6919630		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6919630C>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1492C>A	19.37:g.6919630C>A	ENSP00000311545:p.His498Asn		Somatic				EMR1_ENST00000250572.8_Missense_Mutation_p.H498N|EMR1_ENST00000450315.3_Missense_Mutation_p.H321N|EMR1_ENST00000381407.5_Missense_Mutation_p.H357N|EMR1_ENST00000381404.4_Missense_Mutation_p.H446N	p.H498N	NM_001974.4	NP_001965.3	WXS	Illumina GAIIx	Phase_I	Q14246	EMR1_HUMAN			13	1529	+	all_hematologic(4;0.166)		498			Ser/Thr-rich.		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.1492C>A	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	C	2.917	-0.224076	0.06061	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.77098	-1.04;-1.07;-1.07;0.11;0.44	3.99	-0.831	0.10789	.	.	.	.	.	T	0.59418	0.2192	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.29805	0.204;0.05;0.257;0.167;0.167	B;B;B;B;B	0.26864	0.046;0.029;0.074;0.034;0.034	T	0.41161	-0.9524	9	0.17369	T	0.5	.	3.2259	0.06731	0.3617:0.431:0.0:0.2073	.	321;357;498;446;498	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	N	498;498;446;498;357;321	ENSP00000311545:H498N;ENSP00000370811:H446N;ENSP00000250572:H498N;ENSP00000370814:H357N;ENSP00000405974:H321N	ENSP00000250572:H498N	H	+	1	0	EMR1	6870630	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.398000	0.07259	-0.127000	0.11661	0.491000	0.48974	CAC		0.483	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			27	57	1	0	8.24728e-16	1	9.26011e-16	27	57					A	6919630	C	A	6919630	3	1	35	1	0	0	0	0	1	0	0	0	5106	594	21	5	1542	5	EMR1	19	6919630	Missense_Mutation	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08		6919630	52209353	34	3298										
PRAM1	4670	broad.mit.edu	37	chr19	8555521	8555521	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	agcatctcctcattgctggtGaactcgatcacctccaggat	8	13	3	1			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:8555521G>A	ENST00000325495.4	+	0	2494				PRAM1_ENST00000423345.4_Silent_p.F621F|PRAM1_ENST00000255612.3_Silent_p.F620F	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						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						CATTGCTGGTGAACTCGATCA	0.662																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(1861-1863)ttC>ttT		PML-RARA regulated adaptor molecule 1							17	21	20					19																	8555521		2004	4159	6163	SO:0001628	intergenic_variant	84106						lipid binding|protein binding	g.chr19:8555521G>A	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		19.37:g.8555521G>A			Somatic				PRAM1_ENST00000255612.3_Silent_p.F620F	p.F621F			WXS	Illumina GAIIx	Phase_I	Q96QH2	PRAM_HUMAN			7	2383	-			669					Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Silent	SNP	ENST00000325495.4	37	c.1863C>T	CCDS12203.1																																																																																				0.662	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			4	25	0	0	0	1	0	4	25					A	8555521	G	A	8555521	1	1	35	0	1	0	0	0	0	0	0	0	12435	1281	45	3		3	PRAM1	19	8555521	IGR	SNP	G	TCGA-N9-A4Q3-01A-11D-A28R-08	1635891	8555521	50573462	35	3299										
PRAM1	84106	broad.mit.edu	37	chr19	8564555	8564555	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	ttagctcaggctgggagaacTtcttcagtttaccaaactca	8	10	4	1			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:8564555T>A	ENST00000423345.4	-	2	657	c.137A>T	c.(136-138)aAg>aTg	p.K46M	PRAM1_ENST00000255612.3_Missense_Mutation_p.K46M			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	46	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTGGGAGAACTTCTTCAGTTT	0.592																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(136-138)aAg>aTg		PML-RARA regulated adaptor molecule 1							48	56	54					19																	8564555		1995	4162	6157	SO:0001583	missense	84106						lipid binding|protein binding	g.chr19:8564555T>A	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.137A>T	19.37:g.8564555T>A	ENSP00000408342:p.Lys46Met		Somatic				PRAM1_ENST00000255612.3_Missense_Mutation_p.K46M	p.K46M			WXS	Illumina GAIIx	Phase_I	Q96QH2	PRAM_HUMAN			2	657	-			46			Pro-rich.		Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	c.137A>T	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	T	13.11	2.139791	0.37728	.	.	ENSG00000133246	ENST00000255612;ENST00000423345;ENST00000536152	T;T	0.24908	1.83;1.83	4.92	2.68	0.31781	.	0.000000	0.44285	D	0.000479	T	0.43122	0.1233	M	0.76328	2.33	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.15122	-1.0448	10	0.72032	D	0.01	.	4.1689	0.10320	0.0:0.1072:0.211:0.6817	.	46;46	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	M	46;46;1	ENSP00000255612:K46M;ENSP00000408342:K46M	ENSP00000255612:K46M	K	-	2	0	PRAM1	8470555	0.259000	0.24043	0.983000	0.44433	0.095000	0.18619	0.754000	0.26390	1.974000	0.57490	0.482000	0.46254	AAG		0.592	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		21	133	0	0	0	1	0	21	133					A	8564555	T	A	8564555	3	1	35	1	0	0	0	0	1	0	0	0	12435	1609	56	4	1908	4	PRAM1	19	8564555	Missense_Mutation	SNP	T	TCGA-N9-A4Q3-01A-11D-A28R-08	9034	8564555	50564428	36	3300										
CCDC130	81576	broad.mit.edu	37	chr19	13873409	13873409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	tctcctctcctctagcctacGaggacaagcagaaactcaag	7	14	4	1	rs574415490		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:13873409G>A	ENST00000586600.1	+	11	1221	c.718G>A	c.(718-720)Gag>Aag	p.E240K	CCDC130_ENST00000587019.1_3'UTR|MRI1_ENST00000040663.6_5'Flank|MRI1_ENST00000319545.8_5'Flank|CCDC130_ENST00000221554.8_Missense_Mutation_p.E240K			P13994	CC130_HUMAN	coiled-coil domain containing 130	240					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			TCTAGCCTACGAGGACAAGCA	0.632													G|||	1	0.000199681	0	0	5008	,	,		15824	0		0	False		,,,				2504	0.001					ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(718-720)Gag>Aag		coiled-coil domain containing 130							33	35	34					19																	13873409		2202	4299	6501	SO:0001583	missense	81576				response to virus		protein binding	g.chr19:13873409G>A	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.718G>A	19.37:g.13873409G>A	ENSP00000465776:p.Glu240Lys		Somatic				CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Missense_Mutation_p.E240K	p.E240K			WXS	Illumina GAIIx	Phase_I	P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		11	1221	+			240					Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	c.718G>A	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158073	0.57368	.	.	ENSG00000104957	ENST00000221554	T	0.33654	1.4	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.40694	0.1127	L	0.58669	1.825	0.80722	D	1	P;P	0.51933	0.949;0.91	B;P	0.45856	0.301;0.495	T	0.17501	-1.0367	10	0.26408	T	0.33	-21.7476	16.3434	0.83110	0.0:0.0:1.0:0.0	.	240;240	B3KUZ1;P13994	.;CC130_HUMAN	K	240	ENSP00000221554:E240K	ENSP00000221554:E240K	E	+	1	0	CCDC130	13734409	1.000000	0.71417	0.981000	0.43875	0.241000	0.25554	8.247000	0.89830	2.470000	0.83445	0.561000	0.74099	GAG		0.632	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		14	15	0	0	0	1	0	14	15					A	13873409	G	A	13873409	3	1	35	1	0	0	0	0	1	0	0	0	2768	1059	37	1	752	1	CCDC130	19	13873409	Missense_Mutation	SNP	G	TCGA-N9-A4Q3-01A-11D-A28R-08	5308854	13873409	45255574	37	3301										
NDUFA13	51079	broad.mit.edu	37	chr19	19627058	19627058	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	tactgcgagtatggcggcgtCaaaggtgaagcaggacatgc	15	8	1	1			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:19627058C>T	ENST00000507754.4	+	1	495	c.11C>T	c.(10-12)tCa>tTa	p.S4L	NDUFA13_ENST00000252576.5_Missense_Mutation_p.S87L|NDUFA13_ENST00000512771.3_Missense_Mutation_p.S4L|NDUFA13_ENST00000503283.1_Missense_Mutation_p.S4L|NDUFA13_ENST00000428459.2_Missense_Mutation_p.S4L|TSSK6_ENST00000585580.3_5'Flank|TSSK6_ENST00000360913.3_5'Flank|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.S4L|YJEFN3_ENST00000608404.1_Missense_Mutation_p.S4L|CTC-260F20.3_ENST00000586674.1_3'UTR			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	4					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						ATGGCGGCGTCAAAGGTGAAG	0.612																																						ENST00000555938.1																			0											c.(10-12)tCa>tTa									45	49	47					19																	19627058		2203	4300	6503	SO:0001583	missense	0							g.chr19:19627058C>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.11C>T	19.37:g.19627058C>T	ENSP00000423673:p.Ser4Leu		Somatic				NDUFA13_ENST00000503283.1_Missense_Mutation_p.S4L|NDUFA13_ENST00000252576.5_Missense_Mutation_p.S87L|NDUFA13_ENST00000428459.2_Missense_Mutation_p.S4L|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000507754.3_Missense_Mutation_p.S4L	p.S4L			WXS	Illumina GAIIx	Phase_I					1	23	+								B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.11C>T	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044976	0.75846	.	.	ENSG00000186010;ENSG00000186010;ENSG00000250067;ENSG00000258674	ENST00000507754;ENST00000252576;ENST00000553705;ENST00000555938	T;T;T	0.77750	-1.12;-1.12;-1.12	5.3	5.3	0.74995	.	0.065229	0.64402	D	0.000007	T	0.70727	0.3257	L	0.49778	1.585	0.29617	N	0.846495	P;B;B	0.38922	0.651;0.015;0.036	B;B;B	0.33392	0.163;0.029;0.05	T	0.68845	-0.5301	10	0.26408	T	0.33	.	16.5154	0.84299	0.0:1.0:0.0:0.0	.	4;4;4	E7ENQ6;B4DF76;Q9P0J0	.;.;NDUAD_HUMAN	L	4;87;4;4	ENSP00000423673:S4L;ENSP00000252576:S87L;ENSP00000452549:S4L	ENSP00000252576:S87L	S	+	2	0	YJEFN3;NDUFA13;CTC-260F20.3	19488058	0.999000	0.42202	1.000000	0.80357	0.568000	0.35870	2.666000	0.46799	2.504000	0.84457	0.650000	0.86243	TCA		0.612	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		21	51	0	0	0	1	0	21	51					T	19627058	C	T	19627058	3	4	35	1	0	0	0	0	1	0	0	0	10272	838	29	3	13	3	NDUFA13	19	19627058	Missense_Mutation	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08	5753649	19627058	39501925	38	3302										
CCDC123	84902	broad.mit.edu	37	chr19	33414440	33414440	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	actcgcatcctaaacattctCatttcctcctgaaataaaat	2	12	1	1			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:33414440C>T	ENST00000305768.5	-	12	1261	c.1173G>A	c.(1171-1173)atG>atA	p.M391I		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	391					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						TAAACATTCTCATTTCCTCCT	0.388																																						ENST00000305768.4																			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.(1171-1173)atG>atA		centrosomal protein 89kDa							195	178	183					19																	33414440		2202	4300	6502	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33414440C>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.1173G>A	19.37:g.33414440C>T	ENSP00000306105:p.Met391Ile		Somatic					p.M391I	NM_032816.3	NP_116205.3	WXS	Illumina GAIIx	Phase_I	Q96ST8	CEP89_HUMAN			12	1261	-			391					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.1173G>A	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088368	0.36855	.	.	ENSG00000121289	ENST00000305768	T	0.43294	0.95	5.12	5.12	0.69794	.	0.327147	0.38663	N	0.001602	T	0.35038	0.0918	L	0.39633	1.23	0.80722	D	1	B;B	0.19073	0.019;0.033	B;B	0.17979	0.02;0.02	T	0.10359	-1.0633	10	0.20046	T	0.44	-10.6997	15.5662	0.76294	0.0:1.0:0.0:0.0	.	144;391	Q96ST8-2;Q96ST8	.;CEP89_HUMAN	I	391	ENSP00000306105:M391I	ENSP00000306105:M391I	M	-	3	0	CEP89	38106280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.928000	0.56506	2.408000	0.81797	0.650000	0.86243	ATG		0.388	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		42	282	0	0	0	1	0	42	282					T	33414440	C	T	33414440	3	4	35	1	0	0	0	0	1	0	0	0	2761	826	29	3	1210	3	CCDC123	19	33414440	Missense_Mutation	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08	13787382	33414440	25714543	39	3303										
PPP2R1A	5518	broad.mit.edu	37	chr19	52715971	52715971	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	cctgtgctcagatgacacccCcatggtgcggcgggccgcag	14	15	1	2			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:52715971C>G	ENST00000322088.6	+	5	594	c.536C>G	c.(535-537)cCc>cGc	p.P179R	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R|PPP2R1A_ENST00000462990.1_5'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.P179R(21)|p.P179L(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		26	Substitution - Missense(26)	p.P179R(21)|p.P179L(5)	endometrium(25)|ovary(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(535-537)cCc>cGc		protein phosphatase 2, regulatory subunit A, alpha							61	52	55					19																	52715971		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715971C>G		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.536C>G	19.37:g.52715971C>G	ENSP00000324804:p.Pro179Arg		Somatic				PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R	p.P179R	NM_014225.5	NP_055040.2	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	594	+			179			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.536C>G	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457832	0.84317	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.16597	2.33;2.33	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.092820	0.45867	D	0.000326	T	0.55226	0.1907	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.995	T	0.70695	-0.4801	10	0.87932	D	0	-22.0504	15.1189	0.72426	0.0:1.0:0.0:0.0	.	124;179;179	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	R	169;99;179;124	ENSP00000324804:P179R;ENSP00000415067:P124R	ENSP00000324804:P179R	P	+	2	0	PPP2R1A	57407783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.760000	0.74939	2.503000	0.84419	0.655000	0.94253	CCC		0.612	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		37	42	0	0	0	1	0	37	42					G	52715971	C	G	52715971	3	3	35	1	0	0	0	0	1	0	0	0	12394	623	22	5	554	5	PPP2R1A	19	52715971	Missense_Mutation	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08	19301531	52715971	6413012	40	3304										
TCF15	6939	broad.mit.edu	37	chr20	590483	590483	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	cacggctgcccgtcgtcggcCgagtcgcccagcagcagcac	13	18	0	0			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr20:590483C>T	ENST00000246080.3	-	1	559	c.399G>A	c.(397-399)tcG>tcA	p.S133S		NM_004609.3	NP_004600.2	Q12870	TCF15_HUMAN	transcription factor 15 (basic helix-loop-helix)	133					death (GO:0016265)|ear development (GO:0043583)|eating behavior (GO:0042755)|establishment of epithelial cell apical/basal polarity (GO:0045198)|mesenchymal to epithelial transition (GO:0060231)|mesoderm development (GO:0007498)|muscle organ morphogenesis (GO:0048644)|neuromuscular process controlling posture (GO:0050884)|paraxial mesoderm development (GO:0048339)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression involved in extracellular matrix organization (GO:1901311)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|lung(2)|prostate(1)	4		Breast(17;0.231)				CGTCGTCGGCCGAGTCGCCCA	0.741																																						ENST00000246080.3																			0				autonomic_ganglia(1)|lung(2)|prostate(1)	4						c.(397-399)tcG>tcA		transcription factor 15 (basic helix-loop-helix)							16	15	15					20																	590483		2192	4282	6474	SO:0001819	synonymous_variant	6939				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:590483C>T		CCDS33432.1	20p13	2013-05-21			ENSG00000125878	ENSG00000125878		"Basic helix-loop-helix proteins"	11627	protein-coding gene	gene with protein product		601010				8825648, 8041747	Standard	NM_004609		Approved	EC2, PARAXIS, bHLHa40	uc002wdz.3	Q12870	OTTHUMG00000031640	ENST00000246080.3:c.399G>A	20.37:g.590483C>T			Somatic					p.S133S	NM_004609.3	NP_004600.2	WXS	Illumina GAIIx	Phase_I	Q12870	TCF15_HUMAN			1	559	-		Breast(17;0.231)	133					Q9NQQ1	Silent	SNP	ENST00000246080.3	37	c.399G>A	CCDS33432.1																																																																																				0.741	TCF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077475.2	NM_004609		7	6	0	0	0	1	0	7	6					T	590483	C	T	590483	2	4	35	1	0	0	0	0	0	0	0	1	15703	639	23	1		1	TCF15	20	590483	Silent	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08		590483	62435037	41	3305										
DSN1	79980	broad.mit.edu	37	chr20	35399395	35399409	+	In_Frame_Del	DEL	TGAAGGGACTTCGAC	TGAAGGGACTTCGAC	-													0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	attgttcttgaggagacaaaTgaagggacttcgactgaagt					rs563758920		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr20:35399395_35399409delTGAAGGGACTTCGAC	ENST00000426836.1	-	3	594_608	c.222_236delGTCGAAGTCCCTTCA	c.(220-237)cagtcgaagtcccttcat>cat	p.QSKSL74del	DSN1_ENST00000373734.4_Intron|DSN1_ENST00000448110.2_In_Frame_Del_p.QSKSL58del|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373750.4_In_Frame_Del_p.QSKSL74del|DSN1_ENST00000373745.3_In_Frame_Del_p.QSKSL74del	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	74					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				AGGAGACAAATGAAGGGACTTCGACTGAAGTCTTT	0.498																																						ENST00000426836.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(220-237)cat>ca		DSN1, MIS12 kinetochore complex component																																				SO:0001651	inframe_deletion	79980				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr20:35399395_35399409delTGAAGGGACTTCGAC	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.222_236delGTCGAAGTCCCTTCA	20.37:g.35399395_35399409delTGAAGGGACTTCGAC	ENSP00000389810:p.Gln74_Leu78del		Somatic				DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373745.3_In_Frame_Del_p.QSKSLH74del|DSN1_ENST00000373750.4_In_Frame_Del_p.QSKSLH74del|DSN1_ENST00000448110.1_In_Frame_Del_p.QSKSLH58del	p.QSKSLH74del	NM_001145316.1	NP_001138788.1	WXS	Illumina GAIIx	Phase_I	Q9H410	DSN1_HUMAN			3	594_608	-		Myeloproliferative disorder(115;0.00874)	74					B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	In_Frame_Del	DEL	ENST00000426836.1	37	c.222_236delGTCGAAGTCCCTTCA	CCDS13286.1																																																																																				0.498	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		45	141						45	141	---	---	---	---	-	35399409	TGAAGGGACTTCGAC	-	35399395	7	5	35	1	0	1	0	1	0	0	0	0	4782	1464	51	0	870	0	DSN1	20	35399395	In_Frame_Del	DEL	TGAAGGGACTTCGAC	TCGA-N9-A4Q3-01A-11D-A28R-08	34808912	35399395	27626125	42	3306										
MXRA5	25878	broad.mit.edu	37	chrX	3235472	3235472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	gcggatctgggtaccgtcccCgagcacccagcgcacgctgg	14	16	1	0			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrX:3235472C>T	ENST00000217939.6	-	6	6404	c.6250G>A	c.(6250-6252)Ggg>Agg	p.G2084R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2084	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)				GTACCGTCCCCGAGCACCCAG	0.642																																						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.(6250-6252)Ggg>Agg		matrix-remodelling associated 5							25	23	24					X																	3235472		2185	4272	6457	SO:0001583	missense	25878					extracellular region		g.chrX:3235472C>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.6250G>A	X.37:g.3235472C>T	ENSP00000217939:p.Gly2084Arg		Somatic					p.G2084R	NM_015419.3	NP_056234.2	WXS	Illumina GAIIx	Phase_I	Q9NR99	MXRA5_HUMAN			6	6404	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2084			Ig-like C2-type 5.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6250G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	0.514	-0.865153	0.02590	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66638	-0.22	3.63	-7.26	0.01466	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.174370	0.01532	N	0.018867	T	0.32823	0.0842	N	0.01505	-0.83	0.09310	N	1	B	0.17268	0.021	B	0.14023	0.01	T	0.39722	-0.9600	10	0.21540	T	0.41	.	4.6789	0.12725	0.5247:0.1009:0.2942:0.0803	.	2084	Q9NR99	MXRA5_HUMAN	R	2084	ENSP00000217939:G2084R	ENSP00000217939:G2084R	G	-	1	0	MXRA5	3245472	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.486000	0.22340	-3.382000	0.00175	-0.325000	0.08501	GGG		0.642	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		13	10	0	0	0	1	0	13	10					T	3235472	C	T	3235472	3	4	35	1	0	0	0	0	1	0	0	0	10012	652	23	1	2244	1	MXRA5	23	3235472	Missense_Mutation	SNP	C	TCGA-N9-A4Q3-01A-11D-A28R-08		3235472	152035088	43	3307										
KAL1	3730	broad.mit.edu	37	chrX	8553429	8553429	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	tcagtcagttgaactcgctcGtctgtggtctgaggggacat	13	9	4	2	rs188939998		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrX:8553429G>A	ENST00000262648.3	-	6	884	c.735C>T	c.(733-735)gaC>gaT	p.D245D		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	245	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)	p.D245D(1)		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						GAACTCGCTCGTCTGTGGTCT	0.488													G|||	2	0.000529801	0	0.0014	3775	,	,		14329	0.001		0	False		,,,				2504	0					ENST00000262648.3																			1	Substitution - coding silent(1)	p.D245D(1)	breast(1)	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.(733-735)gaC>gaT		Kallmann syndrome 1 sequence							186	130	149					X																	8553429		2203	4300	6503	SO:0001819	synonymous_variant	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:8553429G>A		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.735C>T	X.37:g.8553429G>A			Somatic					p.D245D	NM_000216.2	NP_000207.2	WXS	Illumina GAIIx	Phase_I	P23352	KALM_HUMAN			6	884	-			245			Fibronectin type-III 1.		B2RPF8	Silent	SNP	ENST00000262648.3	37	c.735C>T	CCDS14130.1																																																																																				0.488	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		36	39	0	0	0	1	0	36	39					A	8553429	G	A	8553429	2	1	35	1	0	0	0	0	0	0	0	1	7983	1136	40	1		1	KAL1	23	8553429	Silent	SNP	G	TCGA-N9-A4Q3-01A-11D-A28R-08	5317957	8553429	146717131	44	3308										
FANCB	2187	broad.mit.edu	37	chrX	14862842	14862843	+	Frame_Shift_Ins	INS	-	-	A													0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	tggaatgctgcaagaagtgcINSaaaaagatcttccatgtgct							TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrX:14862842_14862843insA	ENST00000324138.3	-	8	2100_2101	c.1947_1948insT	c.(1945-1950)tttgcafs	p.A650fs	FANCB_ENST00000398334.1_Frame_Shift_Ins_p.A650fs	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	650					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)					GCAAGAAGTGCAAAAAGATCTT	0.347								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.(1945-1950)ttcactfs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B																																				SO:0001589	frameshift_variant	2187	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14862842_14862843insA	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.1948dupT	X.37:g.14862847_14862847dupA	ENSP00000326819:p.Ala650fs		Somatic				FANCB_ENST00000324138.3_Frame_Shift_Ins_p.T650fs	p.T650fs	NM_001018113.1	NP_001018123.1	WXS	Illumina GAIIx	Phase_I	Q8NB91	FANCB_HUMAN			9	2214_2215	-	Hepatocellular(33;0.183)		650					B2RMZ4|Q7Z2U2|Q86XG1	Frame_Shift_Ins	INS	ENST00000324138.3	37	c.1947_1948insT	CCDS14161.1																																																																																				0.347	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		16	87						16	87	---	---	---	---	A	14862843	-	A	14862842	7	5	35	1	0	1	1	0	0	0	0	0	5671	710	25	0	639	0	FANCB	23	14862842	Frame_Shift_Ins	INS	-	TCGA-N9-A4Q3-01A-11D-A28R-08	6309413	14862842	140407718	45	3309										
USP9X	8239	broad.mit.edu	37	chrX	41055894	41055895	+	Frame_Shift_Ins	INS	-	-	A													0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	ggcgactactttactcttttINSaagacaccttcttaattacg							TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrX:41055894_41055895insA	ENST00000324545.8	+	28	4769_4770	c.4136_4137insA	c.(4135-4140)ttaagafs	p.R1380fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.R1380fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1380					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						TTTACTCTTTTAAGACACCTTC	0.347																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(4135-4137)tagfs		ubiquitin specific peptidase 9, X-linked																																				SO:0001589	frameshift_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41055894_41055895insA	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.4138dupA	X.37:g.41055896_41055896dupA	ENSP00000316357:p.Arg1380fs		Somatic				USP9X_ENST00000378308.2_Frame_Shift_Ins_p.*1379fs	p.*1379fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	WXS	Illumina GAIIx	Phase_I	Q93008	USP9X_HUMAN			28	4769_4770	+			1379					O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	ENST00000324545.8	37	c.4136_4137insA	CCDS43930.1																																																																																				0.347	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		14	42						14	42	---	---	---	---	A	41055895	-	A	41055894	7	5	35	1	0	1	1	0	0	0	0	0	17105	1764	61	0	4242	0	USP9X	23	41055894	Frame_Shift_Ins	INS	-	TCGA-N9-A4Q3-01A-11D-A28R-08	26193052	41055894	114214666	46	3310										
AIFM1	9131	broad.mit.edu	37	chrX	129299534	129299534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.191489361702128	9	0.323067046434308	2.20892494929006	3.55882352941176	1.85677749360614	0.369849964277209	1	0	gggtcagtcacctgggagccGgttcctctgcctcgggcttc	14	14	3	0			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrX:129299534G>A	ENST00000287295.3	-	1	327	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	AIFM1_ENST00000535724.1_5'UTR|AIFM1_ENST00000346424.2_Missense_Mutation_p.R33W|AIFM1_ENST00000319908.3_Missense_Mutation_p.R33W	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	33					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CCTGGGAGCCGGTTCCTCTGC	0.672																																						ENST00000287295.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(97-99)Cgg>Tgg		apoptosis-inducing factor, mitochondrion-associated, 1							48	32	37					X																	129299534		2199	4291	6490	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129299534G>A	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.97C>T	X.37:g.129299534G>A	ENSP00000287295:p.Arg33Trp		Somatic				AIFM1_ENST00000535724.1_5'UTR|AIFM1_ENST00000346424.2_Missense_Mutation_p.R33W|AIFM1_ENST00000319908.3_Missense_Mutation_p.R33W	p.R33W	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	WXS	Illumina GAIIx	Phase_I	O95831	AIFM1_HUMAN			1	327	-			33					A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.97C>T	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421499	0.83559	.	.	ENSG00000156709	ENST00000346424;ENST00000319908;ENST00000287295	T;T;T	0.52057	0.68;0.98;0.98	4.67	4.67	0.58626	.	0.163432	0.53938	D	0.000048	T	0.57681	0.2070	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.76494	0.999;0.991;0.999;0.998	P;B;P;P	0.59221	0.818;0.272;0.854;0.784	T	0.61461	-0.7058	10	0.87932	D	0	-3.9738	11.8814	0.52578	0.0:0.0:1.0:0.0	.	33;33;33;33	Q1L6K6;O95831-2;O95831-3;O95831	.;.;.;AIFM1_HUMAN	W	33	ENSP00000316320:R33W;ENSP00000315122:R33W;ENSP00000287295:R33W	ENSP00000287295:R33W	R	-	1	2	AIFM1	129127215	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.010000	0.49559	2.289000	0.77006	0.600000	0.82982	CGG		0.672	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			4	8	0	0	0	1	0	4	8					A	129299534	G	A	129299534	3	1	35	1	0	0	0	0	1	0	0	0	426	1115	39	1	1955	1	AIFM1	23	129299534	Missense_Mutation	SNP	G	TCGA-N9-A4Q3-01A-11D-A28R-08	88243640	129299534	25971026	47	3311										
SDC3	9672	broad.mit.edu	37	chr1	31347424	31347424	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	attgtggtcaggaaggtctcTggagttggggtctgcagaga	17	5	3	1			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr1:31347424T>C	ENST00000339394.6	-	4	1056	c.882A>G	c.(880-882)ccA>ccG	p.P294P	SDC3_ENST00000471567.1_5'Flank|SDC3_ENST00000336798.7_Silent_p.P236P	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	294	Ser/Thr-rich (mucin-like).				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAGGTCTCTGGAGTTGGGG	0.597																																						ENST00000336798.7																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(706-708)ccA>ccG		syndecan 3							93	88	90					1																	31347424		2203	4300	6503	SO:0001819	synonymous_variant	9672					integral to membrane	cytoskeletal protein binding	g.chr1:31347424T>C	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"Proteoglycans / Cell Surface : Syndecans"	10660	protein-coding gene	gene with protein product	"syndecan proteoglycan 3"	186357	"syndecan 3 (N-syndecan)"			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.882A>G	1.37:g.31347424T>C			Somatic				SDC3_ENST00000339394.6_Silent_p.P294P	p.P236P			WXS	Illumina GAIIx	Phase_I	O75056	SDC3_HUMAN		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)	2	2200	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	294			Ser/Thr-rich (mucin-like).		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Silent	SNP	ENST00000339394.6	37	c.708A>G	CCDS30661.1																																																																																				0.597	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		69	64	0	0	0	1	0	69	64					C	31347424	T	C	31347424	2	2	36	1	0	0	0	0	0	0	0	1	13968	1567	55	4		4	SDC3	1	31347424	Silent	SNP	T	TCGA-N9-A4Q4-01A-11D-A28R-08		31347424	217903197	1	3312										
PUM1	9698	broad.mit.edu	37	chr1	31439111	31439111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	tgctccatttgctgaagctgCggctgctgcaacagctatga	11	11	0	2			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr1:31439111C>T	ENST00000257075.5	-	13	1897	c.1804G>A	c.(1804-1806)Gca>Aca	p.A602T	PUM1_ENST00000373747.3_Missense_Mutation_p.A603T|PUM1_ENST00000423018.2_Missense_Mutation_p.A458T|PUM1_ENST00000424085.2_Missense_Mutation_p.A360T|PUM1_ENST00000373742.2_Missense_Mutation_p.A543T|PUM1_ENST00000426105.2_Missense_Mutation_p.A602T|PUM1_ENST00000490546.1_5'UTR|SNORD85_ENST00000363311.1_RNA|PUM1_ENST00000440538.2_Intron|PUM1_ENST00000373741.4_Missense_Mutation_p.A638T	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	602	Ala-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GCTGAAGCTGCGGCTGCTGCA	0.473																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1807-1809)Gca>Aca		pumilio RNA-binding family member 1							53	54	54					1																	31439111		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31439111C>T	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1804G>A	1.37:g.31439111C>T	ENSP00000257075:p.Ala602Thr		Somatic				PUM1_ENST00000373742.2_Missense_Mutation_p.A543T|PUM1_ENST00000257075.5_Missense_Mutation_p.A602T|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000440538.2_Intron|PUM1_ENST00000426105.2_Missense_Mutation_p.A602T|PUM1_ENST00000424085.2_Missense_Mutation_p.A360T|PUM1_ENST00000423018.2_Missense_Mutation_p.A458T|PUM1_ENST00000373741.4_Missense_Mutation_p.A638T	p.A603T	NM_001020658.1	NP_001018494.1	WXS	Illumina GAIIx	Phase_I	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	13	1906	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	602			Ala-rich.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.1807G>A	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.289188|4.289188	0.80914|0.80914	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000373741;ENST00000423018;ENST00000373742|ENST00000525843;ENST00000498419	T;T;T;T;T;T;T|.	0.19532|.	2.18;2.15;2.39;2.41;2.41;2.39;2.14|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76004|0.76004	0.3927|0.3927	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.71674|.	0.998;0.99;0.997;0.998;0.997;0.998;0.994|.	P;P;P;P;P;P;B|.	0.56398|.	0.797;0.603;0.797;0.691;0.797;0.691;0.382|.	T|T	0.72141|0.72141	-0.4380|-0.4380	10|5	0.40728|.	T|.	0.16|.	-8.0038|-8.0038	20.3932|20.3932	0.98965|0.98965	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	543;458;638;602;602;603;602|.	B4DG92;E7EWT3;Q5T1Z8;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.	.;.;.;PUM1_HUMAN;.;.;.|.	T|H	360;602;603;340;602;638;458;543|619;313	ENSP00000400141:A360T;ENSP00000257075:A602T;ENSP00000362852:A603T;ENSP00000391723:A602T;ENSP00000362846:A638T;ENSP00000399440:A458T;ENSP00000362847:A543T|.	ENSP00000257075:A602T|.	A|R	-|-	1|2	0|0	PUM1|PUM1	31211698|31211698	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.996000|0.996000	0.88848|0.88848	7.487000|7.487000	0.81328|0.81328	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.473	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			26	65	0	0	0	1	0	26	65					T	31439111	C	T	31439111	3	4	36	1	0	0	0	0	1	0	0	0	12840	768	27	1	1802	1	PUM1	1	31439111	Missense_Mutation	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08	91687	31439111	217811510	2	3313										
YARS	8565	broad.mit.edu	37	chr1	33245093	33245093	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	agcagagcctgccggagggtCcagaggttcaacctggcggt	16	11	1	2			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr1:33245093C>A	ENST00000373477.4	-	12	2274	c.1366G>T	c.(1366-1368)Gac>Tac	p.D456Y	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	456	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	GCCGGAGGGTCCAGAGGTTCA	0.542																																						ENST00000373477.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15						c.(1366-1368)Gac>Tac		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						77	75	75					1																	33245093		2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33245093C>A	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	12840	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 1, cytoplasmic"	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1366G>T	1.37:g.33245093C>A	ENSP00000362576:p.Asp456Tyr		Somatic				YARS_ENST00000469100.1_5'UTR	p.D456Y	NM_003680.3	NP_003671.1	WXS	Illumina GAIIx	Phase_I	P54577	SYYC_HUMAN			12	2274	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	456			tRNA-binding.		B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.1366G>T	CCDS368.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027977	0.93518	.	.	ENSG00000134684	ENST00000373477	T	0.73258	-0.73	5.65	5.65	0.86999	Nucleic acid-binding, OB-fold-like (1);tRNA-binding domain (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.84206	0.5421	M	0.73430	2.235	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	D	0.84516	0.0625	10	0.62326	D	0.03	-25.3858	20.1259	0.97981	0.0:1.0:0.0:0.0	.	456	P54577	SYYC_HUMAN	Y	456	ENSP00000362576:D456Y	ENSP00000362576:D456Y	D	-	1	0	YARS	33017680	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.783000	0.85696	2.835000	0.97688	0.650000	0.86243	GAC		0.542	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		49	39	1	0	2.64894e-19	1	3.21657e-19	49	39					A	33245093	C	A	33245093	3	1	36	1	0	0	0	0	1	0	0	0	17482	855	30	2	228	2	YARS	1	33245093	Missense_Mutation	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08	1805982	33245093	216005528	3	3314										
OR6K2	81448	broad.mit.edu	37	chr1	158670014	158670014	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	caaacacagcaacttaaagtCagttgggtacatagcttggg	10	8	1	0			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr1:158670014C>A	ENST00000359610.2	-	1	472	c.429G>T	c.(427-429)ctG>ctT	p.L143L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AACTTAAAGTCAGTTGGGTAC	0.463																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(427-429)ctG>ctT		olfactory receptor, family 6, subfamily K, member 2							120	106	111					1																	158670014		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158670014C>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.429G>T	1.37:g.158670014C>A			Somatic					p.L143L	NM_001005279.1	NP_001005279.1	WXS	Illumina GAIIx	Phase_I	Q8NGY2	OR6K2_HUMAN			1	472	-	all_hematologic(112;0.0378)		143					B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.429G>T	CCDS30902.1																																																																																				0.463	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		29	75	1	0	2.65835e-16	1	3.11668e-16	29	75					A	158670014	C	A	158670014	2	1	36	1	0	0	0	0	0	0	0	1	11211	813	29	2		2	OR6K2	1	158670014	Silent	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08	125424921	158670014	90580607	4	3315										
PLXNA2	5362	broad.mit.edu	37	chr1	208315676	208315677	+	Frame_Shift_Ins	INS	-	-	TC													0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	tggatgttagcacttacctgINStctctcagacatgacgtaca							TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr1:208315676_208315677insTC	ENST00000367033.3	-	4	2260_2261	c.1503_1504insGA	c.(1501-1506)agacagfs	p.Q502fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	502	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCACTTACCTGTCTCTCAGACA	0.49																																						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.(1501-1506)agaggtfs		plexin A2																																				SO:0001589	frameshift_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208315676_208315677insTC	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.1502_1503dupGA	1.37:g.208315681_208315682dupTC	ENSP00000356000:p.Gln502fs		Somatic					p.G502fs	NM_025179.3	NP_079455.3	WXS	Illumina GAIIx	Phase_I	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	4	2260_2261	-			502			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Frame_Shift_Ins	INS	ENST00000367033.3	37	c.1503_1504insGA	CCDS31013.1																																																																																				0.49	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		17	72						17	72	---	---	---	---	TC	208315677	-	TC	208315676	7	5	36	1	0	1	1	0	0	0	0	0	12129	1386	48	0	4296	0	PLXNA2	1	208315676	Frame_Shift_Ins	INS	-	TCGA-N9-A4Q4-01A-11D-A28R-08	49645662	208315676	40934945	5	3316										
OR2M5	127059	broad.mit.edu	37	chr1	248308944	248308944	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	gatgctgtagcgacattttcCttctcctactgtgggtctcg	10	11	2	0			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr1:248308944C>A	ENST00000366476.1	+	1	495	c.495C>A	c.(493-495)tcC>tcA	p.S165S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	165						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)			CGACATTTTCCTTCTCCTACT	0.448																																						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.(493-495)tcC>tcA		olfactory receptor, family 2, subfamily M, member 5							277	261	266					1																	248308944		2203	4300	6503	SO:0001819	synonymous_variant	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308944C>A		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.495C>A	1.37:g.248308944C>A			Somatic					p.S165S	NM_001004690.1	NP_001004690.1	WXS	Illumina GAIIx	Phase_I	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	495	+	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)		165						Silent	SNP	ENST00000366476.1	37	c.495C>A	CCDS31105.1																																																																																				0.448	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		134	141	1	0	9.186e-65	1	1.17858e-64	134	141					A	248308944	C	A	248308944	2	1	36	1	0	0	0	0	0	0	0	1	11022	668	24	5		5	OR2M5	1	248308944	Silent	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08	39993268	248308944	941677	6	3317										
YSK4	80122	broad.mit.edu	37	chr2	135745373	135745373	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	gttctcttcttcaggttttcGcgttttactaccatggcagt	8	10	3	0			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr2:135745373G>A	ENST00000375845.3	-	7	1099	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.R244*|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.R374*|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	357							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TCAGGTTTTCGCGTTTTACTA	0.378																																						ENST00000375845.3																			0											c.(1069-1071)Cga>Tga		mitogen-activated protein kinase kinase kinase 19							59	56	57					2																	135745373		2203	4300	6503	SO:0001587	stop_gained	80122							g.chr2:135745373G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1069C>T	2.37:g.135745373G>A	ENSP00000365005:p.Arg357*		Somatic				MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.R374*|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.R244*|MAP3K19_ENST00000315513.3_5'UTR	p.R357*	NM_025052.3	NP_079328.3	WXS	Illumina GAIIx	Phase_I					7	1099	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Nonsense_Mutation	SNP	ENST00000375845.3	37	c.1069C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494529	0.44352	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	.	.	.	4.58	2.09	0.27110	.	0.526148	0.15899	N	0.239179	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5785	0.22581	0.0:0.0894:0.4993:0.4113	.	.	.	.	X	357;244;374	.	ENSP00000351140:R244X	R	-	1	2	YSK4	135461843	0.000000	0.05858	0.007000	0.13788	0.015000	0.08874	0.149000	0.16243	0.243000	0.21327	-0.291000	0.09656	CGA		0.378	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		19	16	0	0	0	1	0	19	16					A	135745373	G	A	135745373	4	1	36	1	0	0	0	0	0	1	0	0	17510	1095	38	1	2933	1	YSK4	2	135745373	Nonsense_Mutation	SNP	G	TCGA-N9-A4Q4-01A-11D-A28R-08		135745373	107454000	7	3318										
FN1	2335	broad.mit.edu	37	chr2	216238117	216238117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	aatgacataaattgtatattCggttcccggttccaggcctg	9	9	0	1			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr2:216238117C>T	ENST00000359671.1	-	38	6167	c.5902G>A	c.(5902-5904)Gaa>Aaa	p.E1968K	FN1_ENST00000432072.2_Missense_Mutation_p.E1969K|FN1_ENST00000354785.4_Missense_Mutation_p.E2059K|FN1_ENST00000323926.6_Missense_Mutation_p.E2059K|FN1_ENST00000336916.4_Missense_Mutation_p.E1968K|FN1_ENST00000357867.4_Missense_Mutation_p.E1878K|FN1_ENST00000346544.3_Missense_Mutation_p.E1968K|FN1_ENST00000421182.1_Missense_Mutation_p.E1878K|FN1_ENST00000345488.5_Missense_Mutation_p.E1968K|FN1_ENST00000446046.1_Missense_Mutation_p.E1968K|FN1_ENST00000443816.1_Missense_Mutation_p.E1878K|FN1_ENST00000356005.4_Missense_Mutation_p.E1878K|FN1_ENST00000357009.2_Missense_Mutation_p.E1968K			P02751	FINC_HUMAN	fibronectin 1	1968	Binds to FBLN1.|Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				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.E1968K(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)	ATTGTATATTCGGTTCCCGGT	0.468																																						ENST00000354785.4																		FN1/ALK(2)	1	Substitution - Missense(1)	p.E1968K(1)	large_intestine(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.(6175-6177)Gaa>Aaa		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						149	149	149					2																	216238117		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.chr2:216238117C>T		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.5902G>A	2.37:g.216238117C>T	ENSP00000352696:p.Glu1968Lys		Somatic				FN1_ENST00000432072.2_Missense_Mutation_p.E1969K|FN1_ENST00000357009.2_Missense_Mutation_p.E1968K|FN1_ENST00000345488.5_Missense_Mutation_p.E1968K|FN1_ENST00000346544.3_Missense_Mutation_p.E1968K|FN1_ENST00000359671.1_Missense_Mutation_p.E1968K|FN1_ENST00000336916.4_Missense_Mutation_p.E1968K|FN1_ENST00000446046.1_Missense_Mutation_p.E1968K|FN1_ENST00000443816.1_Missense_Mutation_p.E1878K|FN1_ENST00000356005.4_Missense_Mutation_p.E1878K|FN1_ENST00000357867.4_Missense_Mutation_p.E1878K|FN1_ENST00000421182.1_Missense_Mutation_p.E1878K|FN1_ENST00000323926.6_Missense_Mutation_p.E2059K	p.E2059K			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)	39	6544	-		Renal(323;0.127)	1968			Connecting strand 3 (CS-3) (V region).		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.6175G>A		.	.	.	.	.	.	.	.	.	.	C	20.2	3.947772	0.73787	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923;ENST00000438981	T;T;T;T;T;T;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;0.4;0.4;0.4;0.4;0.4;0.4	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.71953	0.3401	L	0.58302	1.8	0.24871	N	0.99228	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.996;0.999;1.0;1.0;0.999;0.999;0.999;1.0;1.0	D;D;D;D;P;D;D;D;D;D;D;D;D	0.87578	0.987;0.991;0.991;0.993;0.873;0.991;0.998;0.983;0.995;0.991;0.991;0.947;0.998	T	0.64162	-0.6472	10	0.56958	D	0.05	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1759;1968;1969;2059;1878;1878;1968;1968;1969;1878;1878;2059;1968	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	K	1878;2059;1968;1878;2059;1969;1968;1968;1968;1968;1968;1878;1969;1878;685;87	ENSP00000394423:E1878K;ENSP00000323534:E2059K;ENSP00000338200:E1968K;ENSP00000350534:E1878K;ENSP00000346839:E2059K;ENSP00000352696:E1968K;ENSP00000265312:E1968K;ENSP00000273049:E1968K;ENSP00000349509:E1968K;ENSP00000410422:E1968K;ENSP00000415018:E1878K;ENSP00000399538:E1969K;ENSP00000348285:E1878K;ENSP00000416139:E685K;ENSP00000392565:E87K	ENSP00000265313:E1969K	E	-	1	0	FN1	215946362	0.998000	0.40836	0.976000	0.42696	0.499000	0.33736	3.925000	0.56484	2.941000	0.99782	0.655000	0.94253	GAA		0.468	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		4	84	0	0	0	1	0	4	84					T	216238117	C	T	216238117	3	4	36	1	0	0	0	0	1	0	0	0	5970	893	31	1	1290	1	FN1	2	216238117	Missense_Mutation	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08	80492744	216238117	26961256	8	3319										
SPHKAP	80309	broad.mit.edu	37	chr2	228882546	228882546	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	tctttaagctcagggtgctcGtccgtcttcctcttgatctc	8	13	5	1	rs200492792		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr2:228882546G>A	ENST00000392056.3	-	7	3070	c.3024C>T	c.(3022-3024)gaC>gaT	p.D1008D	SPHKAP_ENST00000344657.5_Silent_p.D1008D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1008						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)		CAGGGTGCTCGTCCGTCTTCC	0.517																																						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.(3022-3024)gaC>gaT		SPHK1 interactor, AKAP domain containing							92	80	84					2																	228882546		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228882546G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3024C>T	2.37:g.228882546G>A			Somatic				SPHKAP_ENST00000344657.5_Silent_p.D1008D	p.D1008D	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	3070	-		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)	1008					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.3024C>T	CCDS46537.1																																																																																				0.517	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		45	48	0	0	0	1	0	45	48					A	228882546	G	A	228882546	2	1	36	1	0	0	0	0	0	0	0	1	15063	1136	40	1		1	SPHKAP	2	228882546	Silent	SNP	G	TCGA-N9-A4Q4-01A-11D-A28R-08	12644429	228882546	14316827	9	3320										
SH3TC2	79628	broad.mit.edu	37	chr5	148389871	148389871	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	atgatgcctgtggcgggtccCattgaagaacacatcacctg	11	11	1	3			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr5:148389871C>A	ENST00000515425.1	-	14	3390	c.3289G>T	c.(3289-3291)Ggg>Tgg	p.G1097W	SH3TC2_ENST00000502274.1_5'Flank|SH3TC2_ENST00000538184.1_Missense_Mutation_p.G644W|SH3TC2_ENST00000512049.1_Missense_Mutation_p.G1090W	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1097					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)			TGGCGGGTCCCATTGAAGAAC	0.552																																						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.(1930-1932)Ggg>Tgg		SH3 domain and tetratricopeptide repeats 2							84	76	79					5																	148389871		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148389871C>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.3289G>T	5.37:g.148389871C>A	ENSP00000423660:p.Gly1097Trp		Somatic				SH3TC2_ENST00000515425.1_Missense_Mutation_p.G1097W|SH3TC2_ENST00000512049.1_Missense_Mutation_p.G1090W	p.G644W			WXS	Illumina GAIIx	Phase_I	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	2818	-			1097					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.1930G>T	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272027	0.80469	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049	T;T;T	0.76968	-1.06;-1.06;-0.99	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.88362	0.6416	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88324	0.2964	10	0.87932	D	0	-32.9398	20.3242	0.98691	0.0:1.0:0.0:0.0	.	1090;1097;1097	Q14CC0;E9PDF1;Q8TF17	.;.;S3TC2_HUMAN	W	644;1097;1090	ENSP00000441427:G644W;ENSP00000423660:G1097W;ENSP00000421860:G1090W	ENSP00000425627:G1097W	G	-	1	0	SH3TC2	148370064	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.460000	0.66691	2.882000	0.98803	0.655000	0.94253	GGG		0.552	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		17	0	1	0	2.35188e-11	1	2.62177e-11	17	0					A	148389871	C	A	148389871	3	1	36	1	0	0	0	0	1	0	0	0	14277	594	21	5	593	5	SH3TC2	5	148389871	Missense_Mutation	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08		148389871	32525389	10	3321										
HIVEP1	3096	broad.mit.edu	37	chr6	12121828	12121828	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	aaggaccttcaggtgacaaaCgtacagccactttcagccaa	8	12	2	1	rs373106084		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr6:12121828C>A	ENST00000379388.2	+	4	2132	c.1800C>A	c.(1798-1800)aaC>aaA	p.N600K		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	600					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)				AGGTGACAAACGTACAGCCAC	0.498																																						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.(1798-1800)aaC>aaA		human immunodeficiency virus type I enhancer binding protein 1							76	74	75					6																	12121828		1987	4167	6154	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12121828C>A	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.1800C>A	6.37:g.12121828C>A	ENSP00000368698:p.Asn600Lys		Somatic					p.N600K	NM_002114.2	NP_002105.2	WXS	Illumina GAIIx	Phase_I	P15822	ZEP1_HUMAN			4	2132	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	600					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.1800C>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543346	0.45280	.	.	ENSG00000095951	ENST00000379388	T	0.09538	2.97	5.73	-7.12	0.01537	.	1.350010	0.05263	N	0.516126	T	0.01765	0.0056	L	0.31664	0.95	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.40961	-0.9535	9	.	.	.	-0.3102	7.4555	0.27264	0.0:0.3175:0.3432:0.3392	.	600	P15822	ZEP1_HUMAN	K	600	ENSP00000368698:N600K	.	N	+	3	2	HIVEP1	12229814	0.000000	0.05858	0.000000	0.03702	0.312000	0.27988	0.090000	0.15025	-1.638000	0.01529	-0.302000	0.09304	AAC		0.498	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		51	49	1	0	6.32628e-17	1	7.54714e-17	51	49					A	12121828	C	A	12121828	3	1	36	1	0	0	0	0	1	0	0	0	7195	535	19	5	1810	5	HIVEP1	6	12121828	Missense_Mutation	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08		12121828	158993239	11	3322										
UTRN	7402	broad.mit.edu	37	chr6	144757091	144757091	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	agtacagcgcctgaggaggaGcatgagagtccccgagctga	15	10	0	3			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr6:144757091G>T	ENST00000367545.3	+	9	876	c.876G>T	c.(874-876)gaG>gaT	p.E292D		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	292	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)		CTGAGGAGGAGCATGAGAGTC	0.498																																						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.(874-876)gaG>gaT		utrophin							86	77	80					6																	144757091		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.chr6:144757091G>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.876G>T	6.37:g.144757091G>T	ENSP00000356515:p.Glu292Asp		Somatic					p.E292D	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)	9	876	+		Ovarian(120;0.218)	292			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.876G>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814151	0.32053	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.60548	0.18	5.77	0.55	0.17219	.	0.435189	0.19468	N	0.113535	T	0.24470	0.0593	L	0.36672	1.1	0.43734	D	0.99622	P	0.39665	0.682	B	0.36134	0.218	T	0.03684	-1.1013	10	0.46703	T	0.11	.	6.7692	0.23585	0.3276:0.2049:0.4674:0.0	.	292	P46939	UTRO_HUMAN	D	292	ENSP00000356515:E292D	ENSP00000356499:E292D	E	+	3	2	UTRN	144798784	0.966000	0.33281	0.127000	0.21898	0.003000	0.03518	0.406000	0.21032	0.094000	0.17404	-0.345000	0.07892	GAG		0.498	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			10	29	1	0	0.00621372	1	0.00621372	10	29					T	144757091	G	T	144757091	3	4	36	1	0	0	0	0	1	0	0	0	17118	962	34	5	910	5	UTRN	6	144757091	Missense_Mutation	SNP	G	TCGA-N9-A4Q4-01A-11D-A28R-08	132635263	144757091	26357976	12	3323										
AHR	196	broad.mit.edu	37	chr7	17362140	17362140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	catagttgcattaaaatcctCccctactgaaagaaacggag	7	10	0	2			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:17362140C>T	ENST00000242057.4	+	3	912	c.269C>T	c.(268-270)tCc>tTc	p.S90F		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	90					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	TTAAAATCCTCCCCTACTGAA	0.343																																						ENST00000242057.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(268-270)tCc>tTc		aryl hydrocarbon receptor							55	56	55					7																	17362140		2203	4299	6502	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17362140C>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"Basic helix-loop-helix proteins"	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.269C>T	7.37:g.17362140C>T	ENSP00000242057:p.Ser90Phe		Somatic					p.S90F	NM_001621.4	NP_001612.1	WXS	Illumina GAIIx	Phase_I	P35869	AHR_HUMAN			3	912	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		90					A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.269C>T	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753489	0.69648	.	.	ENSG00000106546	ENST00000242057	T	0.05996	3.36	5.57	5.57	0.84162	.	0.906027	0.09544	N	0.787950	T	0.20901	0.0503	M	0.68952	2.095	0.45250	D	0.998253	B	0.33857	0.429	P	0.47206	0.541	T	0.00918	-1.1515	10	0.54805	T	0.06	.	17.3285	0.87256	0.0:1.0:0.0:0.0	.	90	P35869	AHR_HUMAN	F	90	ENSP00000242057:S90F	ENSP00000242057:S90F	S	+	2	0	AHR	17328665	0.941000	0.31946	0.844000	0.33320	0.854000	0.48673	4.397000	0.59690	2.619000	0.88677	0.655000	0.94253	TCC		0.343	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		6	14	0	0	0	1	0	6	14					T	17362140	C	T	17362140	3	4	36	1	0	0	0	0	1	0	0	0	416	855	30	3	279	3	AHR	7	17362140	Missense_Mutation	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08		17362140	141776523	13	3324										
HIP1	3092	broad.mit.edu	37	chr7	75187513	75187515	+	In_Frame_Del	DEL	CTT	CTT	-													0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	ttctgaaccagctcgctgtaCttctcctttagcttgctata							TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:75187513_75187515delCTT	ENST00000336926.6	-	15	1446_1448	c.1420_1422delAAG	c.(1420-1422)aagdel	p.K474del	HIP1_ENST00000434438.2_In_Frame_Del_p.K474del	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	474	pDED.				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						GCTCGCTGTACTTCTCCTTTAGC	0.552			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.(1420-1422)del		huntingtin interacting protein 1																																				SO:0001651	inframe_deletion	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.chr7:75187513_75187515delCTT	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.1420_1422delAAG	7.37:g.75187513_75187515delCTT	ENSP00000336747:p.Lys474del		Somatic				HIP1_ENST00000434438.2_In_Frame_Del_p.K474del	p.K474del	NM_005338.5	NP_005329.3	WXS	Illumina GAIIx	Phase_I	O00291	HIP1_HUMAN			15	1446_1448	-			474			pDED.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	In_Frame_Del	DEL	ENST00000336926.6	37	c.1420_1422delAAG	CCDS34669.1																																																																																				0.552	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		35	42						35	42	---	---	---	---	-	75187515	CTT	-	75187513	7	5	36	1	0	1	0	1	0	0	0	0	7123	564	20	0	1759	0	HIP1	7	75187513	In_Frame_Del	DEL	CTT	TCGA-N9-A4Q4-01A-11D-A28R-08	57825373	75187513	83951150	14	3325										
MGC26647	219557	broad.mit.edu	37	chr7	88423704	88423704	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	tactttcatagtctggcaaaGgtagagtgacagtttatgag	11	5	2	3	rs202025178		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:88423704G>T	ENST00000297203.2	-	2	738	c.553C>A	c.(553-555)Ctt>Att	p.L185I	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	185										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GTCTGGCAAAGGTAGAGTGAC	0.428																																						ENST00000297203.2																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(553-555)Ctt>Att		chromosome 7 open reading frame 62							194	156	169					7																	88423704		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88423704G>T	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.553C>A	7.37:g.88423704G>T	ENSP00000297203:p.Leu185Ile		Somatic				ZNF804B_ENST00000333190.4_Intron	p.L185I	NM_152706.3	NP_689919.1	WXS	Illumina GAIIx	Phase_I	Q8TBZ9	CG062_HUMAN			2	738	-			185						Missense_Mutation	SNP	ENST00000297203.2	37	c.553C>A	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	G	3.099	-0.185172	0.06340	.	.	ENSG00000164645	ENST00000297203	T	0.25912	1.77	6.16	3.23	0.37069	.	0.480616	0.21314	N	0.076592	T	0.24586	0.0596	L	0.61036	1.89	0.09310	N	1	B	0.27997	0.197	B	0.29524	0.103	T	0.18023	-1.0350	10	0.39692	T	0.17	-17.4804	7.0057	0.24836	0.0793:0.0:0.5549:0.3658	.	185	Q8TBZ9	CG062_HUMAN	I	185	ENSP00000297203:L185I	ENSP00000297203:L185I	L	-	1	0	C7orf62	88261640	0.060000	0.20803	0.009000	0.14445	0.041000	0.13682	0.090000	0.15025	0.357000	0.24183	0.650000	0.86243	CTT		0.428	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		7	102	1	0	2.0095e-06	1	2.13509e-06	7	102					T	88423704	G	T	88423704	3	4	36	1	0	0	0	0	1	0	0	0	9559	1000	35	5	212	5	MGC26647	7	88423704	Missense_Mutation	SNP	G	TCGA-N9-A4Q4-01A-11D-A28R-08	13236191	88423704	70714959	15	3326										
MYL10	93408	broad.mit.edu	37	chr7	101265461	101265461	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	accatggcctccagttcctcGttcttgacattgatgcggcc	9	14	1	2	rs140607004	byFrequency	TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:101265461G>T	ENST00000223167.4	-	5	546	c.369C>A	c.(367-369)aaC>aaA	p.N123K		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	123						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CCAGTTCCTCGTTCTTGACAT	0.597																																					Esophageal Squamous(24;575 709 17516 40384 51639)	ENST00000223167.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						c.(367-369)aaC>aaA		myosin, light chain 10, regulatory							97	80	86					7																	101265461		2203	4300	6503	SO:0001583	missense	93408					mitochondrion	calcium ion binding	g.chr7:101265461G>T	BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"Myosins / Light chain", "EF-hand domain containing"	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.369C>A	7.37:g.101265461G>T	ENSP00000223167:p.Asn123Lys		Somatic					p.N123K	NM_138403.4	NP_612412.2	WXS	Illumina GAIIx	Phase_I	Q9BUA6	MYL10_HUMAN			5	546	-			123						Missense_Mutation	SNP	ENST00000223167.4	37	c.369C>A	CCDS34713.1	.	.	.	.	.	.	.	.	.	.	G	9.735	1.163237	0.21538	.	.	ENSG00000106436	ENST00000223167	T	0.77620	-1.11	4.28	-2.76	0.05896	EF-hand-like domain (1);	0.067013	0.56097	D	0.000029	T	0.71134	0.3304	N	0.16656	0.425	0.38236	D	0.941194	D	0.53151	0.958	P	0.57244	0.816	T	0.72121	-0.4386	10	0.87932	D	0	.	11.7853	0.52039	0.6936:0.0:0.3064:0.0	.	123	Q9BUA6	MYL10_HUMAN	K	123	ENSP00000223167:N123K	ENSP00000223167:N123K	N	-	3	2	MYL10	101052181	0.000000	0.05858	0.967000	0.41034	0.010000	0.07245	-2.380000	0.01066	-0.580000	0.05944	-0.460000	0.05396	AAC		0.597	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1	NM_138403		33	41	1	0	4.74835e-14	1	5.38147e-14	33	41					T	101265461	G	T	101265461	3	4	36	1	0	0	0	0	1	0	0	0	10053	1136	40	5	327	5	MYL10	7	101265461	Missense_Mutation	SNP	G	TCGA-N9-A4Q4-01A-11D-A28R-08	12841757	101265461	57873202	16	3327										
MGAM	8972	broad.mit.edu	37	chr7	141708409	141708409	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	aggacaacgggtcccccagaTcctggaacaactggtaccac	10	14	0	1			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:141708409T>A	ENST00000549489.2	+	3	326	c.231T>A	c.(229-231)gaT>gaA	p.D77E	MGAM_ENST00000475668.2_Missense_Mutation_p.D77E	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	77	Ser/Thr-rich.				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)	GTCCCCCAGATCCTGGAACAA	0.512																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(229-231)gaT>gaA		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						88	85	86					7																	141708409		1878	4108	5986	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.chr7:141708409T>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.231T>A	7.37:g.141708409T>A	ENSP00000447378:p.Asp77Glu		Somatic				MGAM_ENST00000549489.2_Missense_Mutation_p.D77E	p.D77E			WXS	Illumina GAIIx	Phase_I	O43451	MGA_HUMAN			3	285	+	Melanoma(164;0.0272)		77			Ser/Thr-rich.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.231T>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	T	5.164	0.215796	0.09810	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	T;D;T	0.88046	-0.66;-2.33;0.79	1.22	1.22	0.21188	.	3.818040	0.00725	N	0.000905	T	0.73273	0.3566	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.65405	-0.6176	10	0.02654	T	1	.	4.6095	0.12395	0.0:0.0:0.0:1.0	.	77	O43451	MGA_HUMAN	E	77	ENSP00000419372:D77E;ENSP00000447378:D77E;ENSP00000417103:D77E	ENSP00000373973:D77E	D	+	3	2	MGAM	141354878	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.918000	0.04021	0.806000	0.34183	0.533000	0.62120	GAT		0.512	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			25	31	0	0	0	1	0	25	31					A	141708409	T	A	141708409	3	1	36	1	0	0	0	0	1	0	0	0	9550	1432	50	4	237	4	MGAM	7	141708409	Missense_Mutation	SNP	T	TCGA-N9-A4Q4-01A-11D-A28R-08	40442948	141708409	17430254	17	3328										
TAS2R41	259287	broad.mit.edu	37	chr7	143175364	143175364	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	ccagggtgggtgccctggctCctgttgggctctgtcctgat	15	12	1	1			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:143175364C>G	ENST00000408916.1	+	1	399	c.399C>G	c.(397-399)ctC>ctG	p.L133L	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	133					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGCCCTGGCTCCTGTTGGGCT	0.478																																						ENST00000408916.1																			0				endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(397-399)ctC>ctG		taste receptor, type 2, member 41							54	54	54					7																	143175364		1924	4139	6063	SO:0001819	synonymous_variant	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175364C>G	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.399C>G	7.37:g.143175364C>G			Somatic				EPHA1-AS1_ENST00000429289.1_RNA	p.L133L	NM_176883.2	NP_795364.2	WXS	Illumina GAIIx	Phase_I	P59536	T2R41_HUMAN			1	399	+	Melanoma(164;0.15)		133					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Silent	SNP	ENST00000408916.1	37	c.399C>G	CCDS43663.1																																																																																				0.478	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			14	56	0	0	0	1	0	14	56					G	143175364	C	G	143175364	2	3	36	1	0	0	0	0	0	0	0	1	15594	842	30	2		2	TAS2R41	7	143175364	Silent	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08	1466955	143175364	15963299	18	3329										
LRRC6	23639	broad.mit.edu	37	chr8	133637655	133637655	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	aatttctttgtgttgtgttcCtctgtgtctggtgcctgtag	11	7	3	0			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr8:133637655C>G	ENST00000519595.1	-	6	797	c.699G>C	c.(697-699)gaG>gaC	p.E233D	LRRC6_ENST00000518642.1_Missense_Mutation_p.E233D|LRRC6_ENST00000250173.1_Missense_Mutation_p.E233D|LRRC6_ENST00000520446.1_5'UTR			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	233					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGTTGTGTTCCTCTGTGTCTG	0.388																																						ENST00000519595.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34						c.(697-699)gaG>gaC		leucine rich repeat containing 6							196	192	193					8																	133637655		2203	4300	6503	SO:0001583	missense	23639					cytoplasm		g.chr8:133637655C>G	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"leucine rich testes protein"	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.699G>C	8.37:g.133637655C>G	ENSP00000429791:p.Glu233Asp		Somatic				LRRC6_ENST00000518642.1_Missense_Mutation_p.E233D|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.E233D	p.E233D			WXS	Illumina GAIIx	Phase_I	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		6	797	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		233					Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.699G>C		.	.	.	.	.	.	.	.	.	.	C	9.143	1.014440	0.19277	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T	0.55234	0.69;0.53;0.69	5.07	-3.86	0.04230	.	0.549745	0.18649	N	0.135061	T	0.31263	0.0791	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.07385	-1.0775	10	0.33940	T	0.23	-4.4386	6.5441	0.22397	0.1228:0.3514:0.0:0.5258	.	233	Q86X45	LRRC6_HUMAN	D	233	ENSP00000429791:E233D;ENSP00000428610:E233D;ENSP00000250173:E233D	ENSP00000250173:E233D	E	-	3	2	LRRC6	133706837	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.141000	0.03207	-1.043000	0.03258	-0.148000	0.13756	GAG		0.388	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		4	20	0	0	0	1	0	4	20					G	133637655	C	G	133637655	3	3	36	1	0	0	0	0	1	0	0	0	9025	680	24	5	729	5	LRRC6	8	133637655	Missense_Mutation	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08		133637655	12726367	19	3330										
SCRIB	23513	broad.mit.edu	37	chr8	144885555	144885555	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	cggggcgggatcgctaacctCcagggctgcgtcggtgctgg	18	12	0	0			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr8:144885555C>A	ENST00000320476.3	-	24	3607	c.3601G>T	c.(3601-3603)Gag>Tag	p.E1201*	SCRIB_ENST00000356994.2_Nonsense_Mutation_p.E1201*|SCRIB_ENST00000377533.3_Nonsense_Mutation_p.E1120*	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1201	Interaction with ARHGEF7.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCGCTAACCTCCAGGGCTGCG	0.711																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(3601-3603)Gag>Tag		scribbled planar cell polarity protein							12	16	14					8																	144885555		2181	4281	6462	SO:0001587	stop_gained	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144885555C>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3601G>T	8.37:g.144885555C>A	ENSP00000322938:p.Glu1201*		Somatic				SCRIB_ENST00000377533.3_Nonsense_Mutation_p.E1120*|SCRIB_ENST00000320476.3_Nonsense_Mutation_p.E1201*	p.E1201*	NM_182706.4	NP_874365.3	WXS	Illumina GAIIx	Phase_I	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		24	3607	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1201			Interaction with ARHGEF7.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Nonsense_Mutation	SNP	ENST00000320476.3	37	c.3601G>T	CCDS6411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.444783|9.444783	0.99172|0.99172	.|.	.|.	ENSG00000180900|ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539|ENST00000526832	.|.	.|.	.|.	4.4|4.4	4.4|4.4	0.53042|0.53042	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64789	.|0.2630	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71702	.|-0.4513	.|3	0.51188|.	T|.	0.08|.	.|.	14.1801|14.1801	0.65568|0.65568	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	1201;1201;1120;570|196	.|.	ENSP00000322938:E1201X|.	E|G	-|-	1|2	0|0	SCRIB|SCRIB	144957543|144957543	0.999000|0.999000	0.42202|0.42202	0.876000|0.876000	0.34364|0.34364	0.047000|0.047000	0.14425|0.14425	4.097000|4.097000	0.57741|0.57741	1.967000|1.967000	0.57214|0.57214	0.456000|0.456000	0.33151|0.33151	GAG|GGA		0.711	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		5	29	1	0	0.000602214	1	0.000611203	5	29					A	144885555	C	A	144885555	4	1	36	1	0	0	0	0	0	1	0	0	13952	864	30	2	1422	2	SCRIB	8	144885555	Nonsense_Mutation	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08	11247900	144885555	1478467	20	3331										
IFNA16	3449	broad.mit.edu	37	chr9	21217162	21217162	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	ccttcaggcaggagaaatgaGagattcttcccatttgtgcc	10	10	2	3			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr9:21217162G>C	ENST00000380216.1	-	1	148	c.143C>G	c.(142-144)tCt>tGt	p.S48C		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	48					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)		GGAGAAATGAGAGATTCTTCC	0.502																																						ENST00000380216.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13						c.(142-144)tCt>tGt		interferon, alpha 16							102	103	103					9																	21217162		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.chr9:21217162G>C		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.143C>G	9.37:g.21217162G>C	ENSP00000369564:p.Ser48Cys		Somatic					p.S48C	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	148	-			48					Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	c.143C>G	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	11.89	1.774657	0.31411	.	.	ENSG00000147885	ENST00000380216	T	0.07021	3.23	2.62	2.62	0.31277	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.338179	0.32175	N	0.006479	T	0.33294	0.0858	H	0.95611	3.695	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.15694	-1.0428	10	0.87932	D	0	.	5.5227	0.16941	0.1613:0.0:0.8387:0.0	.	48	P05015	IFN16_HUMAN	C	48	ENSP00000369564:S48C	ENSP00000369564:S48C	S	-	2	0	IFNA16	21207162	0.000000	0.05858	0.085000	0.20634	0.038000	0.13279	0.666000	0.25097	1.471000	0.48121	0.184000	0.17185	TCT		0.502	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		67	41	0	0	0	1	0	67	41					C	21217162	G	C	21217162	3	2	36	1	0	0	0	0	1	0	0	0	7544	942	33	2	430	2	IFNA16	9	21217162	Missense_Mutation	SNP	G	TCGA-N9-A4Q4-01A-11D-A28R-08		21217162	119996269	21	3332										
DENND1A	57706	broad.mit.edu	37	chr9	126143973	126143973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	ttgagcgggccaggggcaacGttcggatcctcgacggggca	17	11	0	1			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr9:126143973G>A	ENST00000373624.2	-	22	2969	c.2768C>T	c.(2767-2769)aCg>aTg	p.T923M	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.T934M|DENND1A_ENST00000542603.1_Missense_Mutation_p.T708M	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	923	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CAGGGGCAACGTTCGGATCCT	0.687																																						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.(2767-2769)aCg>aTg		DENN/MADD domain containing 1A							8	10	9					9																	126143973		2155	4247	6402	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126143973G>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.2768C>T	9.37:g.126143973G>A	ENSP00000362727:p.Thr923Met		Somatic				DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.T934M|DENND1A_ENST00000542603.1_Missense_Mutation_p.T708M	p.T923M	NM_020946.1	NP_065997.1	WXS	Illumina GAIIx	Phase_I	Q8TEH3	DEN1A_HUMAN			22	2969	-			923			Pro-rich.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.2768C>T	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984861	0.74474	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.28454	3.05;1.61;2.92	4.94	4.94	0.65067	.	0.302249	0.31301	N	0.007894	T	0.48040	0.1478	L	0.36672	1.1	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;0.976;0.996	T	0.51108	-0.8747	10	0.87932	D	0	-11.0921	18.1909	0.89806	0.0:0.0:1.0:0.0	.	934;924;923;786	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	M	923;708;934	ENSP00000362727:T923M;ENSP00000437457:T708M;ENSP00000377766:T934M	ENSP00000362727:T923M	T	-	2	0	DENND1A	125183794	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	6.405000	0.73272	2.304000	0.77564	0.555000	0.69702	ACG		0.687	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		2	1	0	0	0	1	0	2	1					A	126143973	G	A	126143973	3	1	36	1	0	0	0	0	1	0	0	0	4428	1145	40	1	265	1	DENND1A	9	126143973	Missense_Mutation	SNP	G	TCGA-N9-A4Q4-01A-11D-A28R-08	104926811	126143973	15069458	22	3333										
INPP5E	56623	broad.mit.edu	37	chr9	139327477	139327487	+	Frame_Shift_Del	DEL	TGGTCTTGATC	TGGTCTTGATC	-													0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	gctgatgcccaaggccccctTggtcttgatctgagacacga							TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr9:139327477_139327487delTGGTCTTGATC	ENST00000371712.3	-	5	1602_1612	c.1200_1210delGATCAAGACCA	c.(1198-1212)cagatcaagaccaagfs	p.IKTK401fs		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)	p.Q400H(1)		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)		AAGGCCCCCTTGGTCTTGATCTGAGACACGA	0.611																																						ENST00000371712.3																			1	Substitution - Missense(1)	p.Q400H(1)	lung(1)	NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(1198-1212)caagfs		inositol polyphosphate-5-phosphatase, 72 kDa																																				SO:0001589	frameshift_variant	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139327477_139327487delTGGTCTTGATC	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.1200_1210delGATCAAGACCA	9.37:g.139327477_139327487delTGGTCTTGATC	ENSP00000360777:p.Ile401fs		Somatic					p.QIKTK400fs	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)	5	1602_1612	-		Myeloproliferative disorder(178;0.0511)	400					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Frame_Shift_Del	DEL	ENST00000371712.3	37	c.1200_1210delGATCAAGACCA	CCDS7000.1																																																																																				0.611	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		11	30						11	30	---	---	---	---	-	139327487	TGGTCTTGATC	-	139327477	7	5	36	1	0	1	0	1	0	0	0	0	7766	1821	63	0	748	0	INPP5E	9	139327477	Frame_Shift_Del	DEL	TGGTCTTGATC	TCGA-N9-A4Q4-01A-11D-A28R-08	13183504	139327477	1885954	23	3334										
INPP5E	56623	broad.mit.edu	37	chr9	139333399	139333399	+	Frame_Shift_Del	DEL	C	C	-													0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	ccaccccagagagagggttaCcccccgaggacgggctccct							TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr9:139333399delC	ENST00000371712.3	-	1	875	c.473delG	c.(472-474)ggtfs	p.G158fs	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)		GAGAGGGTTACCCCCCGAGGA	0.721																																						ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(472-474)gtfs		inositol polyphosphate-5-phosphatase, 72 kDa							5	6	6					9																	139333399		2124	4174	6298	SO:0001589	frameshift_variant	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139333399delC	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.473delG	9.37:g.139333399delC	ENSP00000360777:p.Gly158fs		Somatic					p.G158fs	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	875	-		Myeloproliferative disorder(178;0.0511)	158			13 X 4 AA repeats of P-X-X-P.		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Frame_Shift_Del	DEL	ENST00000371712.3	37	c.473delG	CCDS7000.1																																																																																				0.721	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		2	4						2	4	---	---	---	---	-	139333399	C	-	139333399	7	5	36	1	0	1	0	1	0	0	0	0	7766	507	18	0	1501	0	INPP5E	9	139333399	Frame_Shift_Del	DEL	C	TCGA-N9-A4Q4-01A-11D-A28R-08	5922	139333399	1880032	24	3335										
NOTCH1	4851	broad.mit.edu	37	chr9	139412690	139412690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	cagggttggtgtcgcagttgGagccctcgttacaggggttg	17	8	0	0			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr9:139412690G>A	ENST00000277541.6	-	7	1229	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	385	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCGCAGTTGGAGCCCTCGTT	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1153-1155)tCc>tTc		notch 1							80	86	84					9																	139412690		2173	4281	6454	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412690G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1154C>T	9.37:g.139412690G>A	ENSP00000277541:p.Ser385Phe	HNSCC(8;0.001)	Somatic					p.S385F	NM_017617.3	NP_060087.3	WXS	Illumina GAIIx	Phase_I	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	7	1229	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	385			EGF-like 10.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1154C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751446	0.89753	.	.	ENSG00000148400	ENST00000277541	D	0.82711	-1.64	4.82	4.82	0.62117	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.87826	0.6275	L	0.52126	1.63	0.80722	D	1	D	0.56746	0.977	P	0.62649	0.905	D	0.89316	0.3636	10	0.87932	D	0	.	16.4581	0.84029	0.0:0.0:1.0:0.0	.	385	P46531	NOTC1_HUMAN	F	385	ENSP00000277541:S385F	ENSP00000277541:S385F	S	-	2	0	NOTCH1	138532511	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.214000	0.95140	2.223000	0.72356	0.514000	0.50259	TCC		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		5	18	0	0	0	1	0	5	18					A	139412690	G	A	139412690	3	1	36	1	0	0	0	0	1	0	0	0	10556	1174	41	3	6625	3	NOTCH1	9	139412690	Missense_Mutation	SNP	G	TCGA-N9-A4Q4-01A-11D-A28R-08	79291	139412690	1800741	25	3336										
SVIL	6840	broad.mit.edu	37	chr10	29747234	29747234	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	tccaggcgggcagggcgttgTattcatccctcgtcatgtct	12	12	3	0			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr10:29747234T>C	ENST00000355867.4	-	38	7339	c.6587A>G	c.(6586-6588)tAc>tGc	p.Y2196C	PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.Y2196C|SVIL_ENST00000375400.3_Missense_Mutation_p.Y1770C|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.Y1110C|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000423223.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2196	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CAGGGCGTTGTATTCATCCCT	0.572																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(6586-6588)tAc>tGc		supervillin							117	103	108					10																	29747234		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29747234T>C	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6587A>G	10.37:g.29747234T>C	ENSP00000348128:p.Tyr2196Cys		Somatic				PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.Y1110C|SVIL_ENST00000375400.3_Missense_Mutation_p.Y1770C|SVIL_ENST00000355867.4_Missense_Mutation_p.Y2196C|PTCHD3P1_ENST00000430295.1_RNA	p.Y2196C			WXS	Illumina GAIIx	Phase_I	O95425	SVIL_HUMAN			40	7036	-		Breast(68;0.103)	2196			HP.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.6587A>G	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.105607	0.56291	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.16457	2.45;2.48;2.48;2.34	4.39	0.403	0.16350	Villin headpiece (5);	0.178796	0.51477	D	0.000099	T	0.38480	0.1042	M	0.83012	2.62	0.80722	D	1	D;P;D	0.64830	0.983;0.712;0.994	P;P;D	0.69479	0.851;0.535;0.964	T	0.17653	-1.0362	10	0.87932	D	0	-9.6424	9.5365	0.39226	0.4198:0.0:0.0:0.5802	.	1110;1770;2196	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	C	1770;2196;2196;1110	ENSP00000364549:Y1770C;ENSP00000364547:Y2196C;ENSP00000348128:Y2196C;ENSP00000445472:Y1110C	ENSP00000348128:Y2196C	Y	-	2	0	SVIL	29787240	0.998000	0.40836	0.003000	0.11579	0.002000	0.02628	1.447000	0.35101	-0.099000	0.12263	-0.343000	0.07986	TAC		0.572	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			20	65	0	0	0	1	0	20	65					C	29747234	T	C	29747234	3	2	36	1	0	0	0	0	1	0	0	0	15436	1638	57	4	61	4	SVIL	10	29747234	Missense_Mutation	SNP	T	TCGA-N9-A4Q4-01A-11D-A28R-08		29747234	105787513	26	3337										
MKI67	4288	broad.mit.edu	37	chr10	129901213	129901213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	cgggttctactttaggggccCgaagaactcttctggatatt	11	9	3	1	rs267602414		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr10:129901213C>T	ENST00000368654.3	-	13	9266	c.8891G>A	c.(8890-8892)cGg>cAg	p.R2964Q	MKI67_ENST00000368653.3_Missense_Mutation_p.R2604Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2964					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R2964P(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTAGGGGCCCGAAGAACTCT	0.493																																						ENST00000368654.3																			1	Substitution - Missense(1)	p.R2964P(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(8890-8892)cGg>cAg		marker of proliferation Ki-67							87	91	89					10																	129901213		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901213C>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.8891G>A	10.37:g.129901213C>T	ENSP00000357643:p.Arg2964Gln		Somatic				MKI67_ENST00000368653.3_Missense_Mutation_p.R2604Q	p.R2964Q	NM_002417.4	NP_002408.3	WXS	Illumina GAIIx	Phase_I	P46013	KI67_HUMAN			13	9266	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2964					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.8891G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201620	0.38905	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02709	4.23;4.19	4.05	2.58	0.30949	.	0.306550	0.23391	N	0.048693	T	0.04588	0.0125	N	0.19112	0.55	0.09310	N	1	D;D;D	0.89917	1.0;0.986;0.996	D;P;P	0.74348	0.983;0.816;0.823	T	0.41413	-0.9510	10	0.12103	T	0.63	.	7.1254	0.25469	0.0:0.8376:0.0:0.1624	.	2963;2604;2964	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	2964;2604;2963	ENSP00000357643:R2964Q;ENSP00000357642:R2604Q	ENSP00000357642:R2604Q	R	-	2	0	MKI67	129791203	0.003000	0.15002	0.006000	0.13384	0.013000	0.08279	0.589000	0.23939	0.874000	0.35823	0.561000	0.74099	CGG		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		4	110	0	0	0	1	0	4	110					T	129901213	C	T	129901213	3	4	36	1	0	0	0	0	1	0	0	0	9607	652	23	1	891	1	MKI67	10	129901213	Missense_Mutation	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08	100153979	129901213	5633534	27	3338										
OR5T1	390155	broad.mit.edu	37	chr11	56043798	56043798	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	actatcctgattgtcctgatCtcctatggttttattctgtt	6	9	2	2			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr11:56043798C>A	ENST00000313033.2	+	1	770	c.684C>A	c.(682-684)atC>atA	p.I228I		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	228						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)					TTGTCCTGATCTCCTATGGTT	0.433																																						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.(682-684)atC>atA		olfactory receptor, family 5, subfamily T, member 1							210	197	201					11																	56043798		2201	4296	6497	SO:0001819	synonymous_variant	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043798C>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.684C>A	11.37:g.56043798C>A			Somatic					p.I228I	NM_001004745.1	NP_001004745.1	WXS	Illumina GAIIx	Phase_I	Q8NG75	OR5T1_HUMAN			1	770	+	Esophageal squamous(21;0.00448)		228					B2RNM9	Silent	SNP	ENST00000313033.2	37	c.684C>A	CCDS31525.1																																																																																				0.433	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		37	152	1	0	1.21669e-08	1	1.33444e-08	37	152					A	56043798	C	A	56043798	2	1	36	1	0	0	0	0	0	0	0	1	11190	903	32	2		2	OR5T1	11	56043798	Silent	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08		56043798	78962718	28	3339										
MYO7A	4647	broad.mit.edu	37	chr11	76883793	76883793	+	Splice_Site	DEL	G	G	-													0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	cgctgccgtccgtccccccaGggcgccgagaccaggaagcg							TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr11:76883793delG	ENST00000409709.3	+	16	2069		c.e16-1		MYO7A_ENST00000409893.1_Splice_Site|MYO7A_ENST00000409619.2_Splice_Site|MYO7A_ENST00000458637.2_Splice_Site	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA						actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CGTCCCCCCAGGGCGCCGAGA	0.687																																						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.e16-1		myosin VIIA							11	13	13					11																	76883793		1965	4021	5986	SO:0001630	splice_region_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76883793delG	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.1798-1G>-	11.37:g.76883793delG			Somatic				MYO7A_ENST00000458637.2_Splice_Site|MYO7A_ENST00000409893.1_Splice_Site|MYO7A_ENST00000409619.2_Splice_Site		NM_000260.3	NP_000251.3	WXS	Illumina GAIIx	Phase_I	Q13402	MYO7A_HUMAN			16	2069	+								B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Splice_Site	DEL	ENST00000409709.3	37		CCDS53683.1																																																																																				0.687	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	Intron	2	4						2	4	---	---	---	---	-	76883793	G	-	76883793	8	5	36	1	0	1	0	1	0	0	1	0	10091	1014	35	0	1855	0	MYO7A	11	76883793	Splice_Site	DEL	G	TCGA-N9-A4Q4-01A-11D-A28R-08	20839995	76883793	58122723	29	3340										
CD163L1	283316	broad.mit.edu	37	chr12	7550963	7550963	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	tcatttccaatgcaagaaacGtcatccagccaaataggtcc	6	12	2	1	rs566622582		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr12:7550963G>T	ENST00000313599.3	-	7	1683	c.1626C>A	c.(1624-1626)gaC>gaA	p.D542E	CD163L1_ENST00000396630.1_Missense_Mutation_p.D542E|CD163L1_ENST00000416109.2_Missense_Mutation_p.D552E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	542	SRCR 5. {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						TGCAAGAAACGTCATCCAGCC	0.413																																						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.(1624-1626)gaC>gaA		CD163 molecule-like 1							220	201	208					12																	7550963		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7550963G>T	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.1626C>A	12.37:g.7550963G>T	ENSP00000315945:p.Asp542Glu		Somatic				CD163L1_ENST00000416109.2_Missense_Mutation_p.D552E|CD163L1_ENST00000396630.1_Missense_Mutation_p.D542E	p.D542E			WXS	Illumina GAIIx	Phase_I	Q9NR16	C163B_HUMAN			7	1683	-			542			SRCR 5.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.1626C>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172188	0.57584	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.28454	1.61;1.61;1.61	2.77	-4.0	0.04057	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.982626	0.08254	U	0.974183	T	0.25232	0.0613	N	0.17872	0.535	0.18873	N	0.999988	D;D	0.56035	0.974;0.974	P;P	0.57846	0.74;0.828	T	0.21075	-1.0256	10	0.23891	T	0.37	.	3.7655	0.08620	0.4462:0.0:0.3795:0.1743	.	552;542	E7EVK4;Q9NR16	.;C163B_HUMAN	E	542;552;542	ENSP00000315945:D542E;ENSP00000393474:D552E;ENSP00000379871:D542E	ENSP00000315945:D542E	D	-	3	2	CD163L1	7442230	0.000000	0.05858	0.048000	0.18961	0.573000	0.36030	-1.922000	0.01568	-0.472000	0.06881	-1.346000	0.01242	GAC		0.413	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		48	66	1	0	4.18559e-23	1	5.17491e-23	48	66					T	7550963	G	T	7550963	3	4	36	1	0	0	0	0	1	0	0	0	2970	1136	40	5	2787	5	CD163L1	12	7550963	Missense_Mutation	SNP	G	TCGA-N9-A4Q4-01A-11D-A28R-08		7550963	126300932	30	3341										
PPFIBP1	8496	broad.mit.edu	37	chr12	27803070	27803070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	tgaagataagttcagagacaCagaggtgagtgatacagtct	12	5	2	6			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr12:27803070C>T	ENST00000318304.8	+	7	882	c.599C>T	c.(598-600)aCa>aTa	p.T200I	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.T47I|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.T200I|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.T200I	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	200					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)					TTCAGAGACACAGAGGTGAGT	0.428																																						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.(598-600)aCa>aTa		PTPRF interacting protein, binding protein 1 (liprin beta 1)							90	88	89					12																	27803070		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27803070C>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.599C>T	12.37:g.27803070C>T	ENSP00000314724:p.Thr200Ile		Somatic				PPFIBP1_ENST00000228425.6_Missense_Mutation_p.T200I|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.T200I|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.T47I	p.T200I	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	WXS	Illumina GAIIx	Phase_I	Q86W92	LIPB1_HUMAN			7	882	+	Lung SC(9;0.0873)		200					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.599C>T	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601795	0.66445	.	.	ENSG00000110841	ENST00000543820;ENST00000545381;ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T;T	0.32272	2.55;1.46;1.47;1.88;2.55;1.89	5.0	5.0	0.66597	.	0.000000	0.35096	U	0.003446	T	0.48840	0.1522	L	0.44542	1.39	0.38406	D	0.945784	P;P;D;P	0.89917	0.881;0.504;1.0;0.637	P;B;D;P	0.87578	0.593;0.389;0.998;0.593	T	0.44574	-0.9319	9	.	.	.	-9.2554	18.264	0.90046	0.0:1.0:0.0:0.0	.	47;200;200;200	Q86W92-3;Q86W92;Q86W92-2;Q86W92-4	.;LIPB1_HUMAN;.;.	I	202;200;28;47;200;200;200	ENSP00000445822:T200I;ENSP00000444304:T28I;ENSP00000445425:T47I;ENSP00000314724:T200I;ENSP00000443442:T200I;ENSP00000228425:T200I	.	T	+	2	0	PPFIBP1	27694337	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.887000	0.63156	2.454000	0.82982	0.650000	0.86243	ACA		0.428	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		10	28	0	0	0	1	0	10	28					T	27803070	C	T	27803070	3	4	36	1	0	0	0	0	1	0	0	0	12322	478	17	3	659	3	PPFIBP1	12	27803070	Missense_Mutation	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08	20252107	27803070	106048825	31	3342										
PKM2	5315	broad.mit.edu	37	chr15	72492887	72492887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	ctggactgggtccttgcacaGcacagggaagatgccacggt	14	11	0	1			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr15:72492887G>A	ENST00000335181.5	-	10	1520	c.1417C>T	c.(1417-1419)Ctg>Ttg	p.L473L	PKM_ENST00000319622.6_Silent_p.L473L|PKM_ENST00000568883.1_Silent_p.L308L|PKM_ENST00000565184.1_Silent_p.L473L|GRAMD2_ENST00000309731.7_5'Flank|PKM_ENST00000568459.1_Silent_p.L473L|PKM_ENST00000449901.2_Silent_p.L458L|PKM_ENST00000389093.3_Silent_p.L473L|PKM_ENST00000565154.1_Silent_p.L473L	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	473	Interaction with POU5F1.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	TCCTTGCACAGCACAGGGAAG	0.632																																						ENST00000319622.6																			0				endometrium(1)|lung(7)	8						c.(1417-1419)Ctg>Ttg		pyruvate kinase, muscle							68	65	66					15																	72492887		2199	4297	6496	SO:0001819	synonymous_variant	5315							g.chr15:72492887G>A	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.1417C>T	15.37:g.72492887G>A			Somatic				PKM_ENST00000389093.3_Silent_p.L473L|PKM_ENST00000335181.5_Silent_p.L473L|PKM_ENST00000568883.1_Silent_p.L308L|PKM_ENST00000565184.1_Silent_p.L473L|PKM_ENST00000568459.1_Silent_p.L473L|PKM_ENST00000449901.2_Silent_p.L458L|PKM_ENST00000565154.1_Silent_p.L473L	p.L473L	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1	WXS	Illumina GAIIx	Phase_I					10	1873	-								A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Silent	SNP	ENST00000335181.5	37	c.1417C>T	CCDS32284.1																																																																																				0.632	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			56	59	0	0	0	1	0	56	59					A	72492887	G	A	72492887	2	1	36	1	0	0	0	0	0	0	0	1	11986	962	34	3		3	PKM2	15	72492887	Silent	SNP	G	TCGA-N9-A4Q4-01A-11D-A28R-08		72492887	30038505	32	3343										
AKAP13	11214	broad.mit.edu	37	chr15	86225393	86225393	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	ctgccttgttttctagattcAcggcccttccacagtacctt	6	14	2	1			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr15:86225393A>G	ENST00000394518.2	+	15	5201	c.5106A>G	c.(5104-5106)tcA>tcG	p.S1702S	AKAP13_ENST00000361243.2_Silent_p.S1706S|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_5'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1702					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						TTCTAGATTCACGGCCCTTCC	0.338																																					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.(5104-5106)tcA>tcG		A kinase (PRKA) anchor protein 13							106	98	101					15																	86225393		2202	4299	6501	SO:0001819	synonymous_variant	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.chr15:86225393A>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.5106A>G	15.37:g.86225393A>G			Somatic				AKAP13_ENST00000361243.2_Silent_p.S1706S|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_5'UTR	p.S1702S	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	WXS	Illumina GAIIx	Phase_I	Q12802	AKP13_HUMAN			15	5201	+			1702					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.5106A>G	CCDS32319.1																																																																																				0.338	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		11	48	0	0	0	1	0	11	48					G	86225393	A	G	86225393	2	3	36	1	0	0	0	0	0	0	0	1	449	146	6	4		4	AKAP13	15	86225393	Silent	SNP	A	TCGA-N9-A4Q4-01A-11D-A28R-08	13732506	86225393	16305999	33	3344										
MAPK8IP3	23162	broad.mit.edu	37	chr16	1814128	1814128	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	ccctgcagctgagtcccaacGggggccaggaggacacgcgg	16	14	0	1			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr16:1814128G>C	ENST00000250894.4	+	18	2192	c.2035G>C	c.(2035-2037)Ggg>Cgg	p.G679R	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.G673R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	679					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)	p.G679W(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GAGTCCCAACGGGGGCCAGGA	0.662																																						ENST00000250894.4																			1	Substitution - Missense(1)	p.G679W(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(2035-2037)Ggg>Cgg		mitogen-activated protein kinase 8 interacting protein 3							30	40	37					16																	1814128		2083	4207	6290	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1814128G>C	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2035G>C	16.37:g.1814128G>C	ENSP00000250894:p.Gly679Arg		Somatic				MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.G673R	p.G679R	NM_015133.3	NP_055948.2	WXS	Illumina GAIIx	Phase_I	Q9UPT6	JIP3_HUMAN			18	2192	+			679					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.2035G>C	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620388	0.66787	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.33438	1.41;1.41	4.67	4.67	0.58626	.	0.247639	0.42420	D	0.000701	T	0.49423	0.1556	M	0.65498	2.005	0.31712	N	0.639368	B;P;D	0.54772	0.205;0.771;0.968	B;B;P	0.57720	0.158;0.312;0.826	T	0.58047	-0.7705	10	0.41790	T	0.15	-32.7923	17.161	0.86803	0.0:0.0:1.0:0.0	.	680;673;679	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	R	679;673	ENSP00000250894:G679R;ENSP00000348290:G673R	ENSP00000250894:G679R	G	+	1	0	MAPK8IP3	1754129	1.000000	0.71417	0.683000	0.30040	0.764000	0.43329	6.414000	0.73318	2.154000	0.67381	0.491000	0.48974	GGG		0.662	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		15	19	0	0	0	1	0	15	19					C	1814128	G	C	1814128	3	2	36	1	0	0	0	0	1	0	0	0	9295	1116	39	5	2121	5	MAPK8IP3	16	1814128	Missense_Mutation	SNP	G	TCGA-N9-A4Q4-01A-11D-A28R-08		1814128	88540625	34	3345										
USP7	7874	broad.mit.edu	37	chr16	8999095	8999106	+	In_Frame_Del	DEL	GAACAGACAGGT	GAACAGACAGGT	-													0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	gtaagcattagtgcagtgtcGaacagacaggtcgtcatcgt					rs372710211|rs146945749		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr16:8999095_8999106delGAACAGACAGGT	ENST00000344836.4	-	14	1709_1720	c.1511_1522delACCTGTCTGTTC	c.(1510-1524)gacctgtctgttcga>gga	p.504_508DLSVR>G	USP7_ENST00000381886.4_In_Frame_Del_p.488_492DLSVR>G|USP7_ENST00000535863.1_In_Frame_Del_p.405_409DLSVR>G	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	504	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GTGCAGTGTCGAACAGACAGGTCGTCATCGTG	0.434											OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1510-1524)gga>g		ubiquitin specific peptidase 7 (herpes virus-associated)																																				SO:0001651	inframe_deletion	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8999095_8999106delGAACAGACAGGT	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1511_1522delACCTGTCTGTTC	16.37:g.8999095_8999106delGAACAGACAGGT	ENSP00000343535:p.Asp504_Arg508delinsGly		Somatic	OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	653	USP7_ENST00000381886.4_In_Frame_Del_p.DLSVR488del|USP7_ENST00000535863.1_In_Frame_Del_p.DLSVR405del	p.DLSVR504del	NM_003470.2	NP_003461.2	WXS	Illumina GAIIx	Phase_I	Q93009	UBP7_HUMAN			14	1709_1720	-			504					A6NMY8|B7Z815|H0Y3G8	In_Frame_Del	DEL	ENST00000344836.4	37	c.1511_1522delACCTGTCTGTTC	CCDS32385.1																																																																																				0.434	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			31	32						31	32	---	---	---	---	-	8999106	GAACAGACAGGT	-	8999095	7	5	36	1	0	1	0	1	0	0	0	0	17103	1066	37	0	1858	0	USP7	16	8999095	In_Frame_Del	DEL	GAACAGACAGGT	TCGA-N9-A4Q4-01A-11D-A28R-08	7184967	8999095	81355658	35	3346										
SPIRE2	84501	broad.mit.edu	37	chr16	89922030	89922030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	ggatggggacatcccgccccGggtgaagaaggacgctcacg	16	12	1	2	rs372155150		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr16:89922030G>A	ENST00000378247.3	+	6	957	c.914G>A	c.(913-915)cGg>cAg	p.R305Q	SPIRE2_ENST00000393062.2_Missense_Mutation_p.R305Q	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	305					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ATCCCGCCCCGGGTGAAGAAG	0.672																																						ENST00000378247.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(913-915)cGg>cAg		spire-type actin nucleation factor 2		G	GLN/ARG	0,4394		0,0,2197	74	54	61		914	4.4	0.5	16		61	1,8597	1.2+/-3.3	0,1,4298	no	missense	SPIRE2	NM_032451.1	43	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign	305/715	89922030	1,12991	2197	4299	6496	SO:0001583	missense	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89922030G>A	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"spire homolog 2 (Drosophila)", "spire family actin nucleation factor 2"			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.914G>A	16.37:g.89922030G>A	ENSP00000367494:p.Arg305Gln		Somatic				SPIRE2_ENST00000393062.2_Missense_Mutation_p.R305Q	p.R305Q	NM_032451.1	NP_115827.1	WXS	Illumina GAIIx	Phase_I	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	6	957	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	305					A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	c.914G>A	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570466	0.86542	0.0	1.16E-4	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.50277	0.76;0.75	5.39	4.43	0.53597	.	0.166781	0.56097	N	0.000029	T	0.63498	0.2516	M	0.72479	2.2	0.80722	D	1	D;B;D;B	0.89917	1.0;0.232;1.0;0.36	D;B;D;B	0.83275	0.996;0.019;0.975;0.028	T	0.63883	-0.6536	10	0.48119	T	0.1	-44.955	8.4893	0.33091	0.1771:0.0:0.8229:0.0	.	172;305;257;305	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	Q	305	ENSP00000367494:R305Q;ENSP00000376782:R305Q	ENSP00000367494:R305Q	R	+	2	0	SPIRE2	88449531	0.989000	0.36119	0.505000	0.27651	0.822000	0.46500	3.718000	0.54919	1.393000	0.46605	0.561000	0.74099	CGG		0.672	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		27	15	0	0	0	1	0	27	15					A	89922030	G	A	89922030	3	1	36	1	0	0	0	0	1	0	0	0	15087	1116	39	1	936	1	SPIRE2	16	89922030	Missense_Mutation	SNP	G	TCGA-N9-A4Q4-01A-11D-A28R-08	80922935	89922030	432723	36	3347										
TP53	7157	broad.mit.edu	37	chr17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	cttcctctgtgcgccggtctCtcccaggacaggcacaaaca	9	16	2	0	rs121912660		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr17:7577099C>G	ENST00000269305.4	-	8	1028	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000420246.2_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T	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	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(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.D281fs*24(1)|p.R280fs*62(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)	GCGCCGGTCTCTCCCAGGACA	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"		154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(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.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	urinary_tract(50)|breast(22)|lung(20)|upper_aerodigestive_tract(14)|haematopoietic_and_lymphoid_tissue(8)|large_intestine(5)|central_nervous_system(5)|stomach(4)|biliary_tract(4)|oesophagus(4)|skin(4)|ovary(4)|bone(4)|prostate(3)|small_intestine(1)|endometrium(1)|vagina(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	CM993218	TP53	M	rs121912660	c.(838-840)aGa>aCa	Other conserved DNA damage response genes	tumor protein p53							77	67	70					17																	7577099		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.chr17:7577099C>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.839G>C	17.37:g.7577099C>G	ENSP00000269305:p.Arg280Thr	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.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron	p.R280T	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	971	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	280		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (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.839G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091761	0.94149	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	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	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;0.992	D;D;D;D	0.97110	0.984;1.0;0.984;0.977	D	0.96400	0.9296	10	0.87932	D	0	-21.0303	16.1198	0.81342	0.0:1.0:0.0:0.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	T	280;280;280;280;280;269;148	ENSP00000352610:R280T;ENSP00000269305:R280T;ENSP00000398846:R280T;ENSP00000391127:R280T;ENSP00000391478:R280T;ENSP00000425104:R148T	ENSP00000269305:R280T	R	-	2	0	TP53	7517824	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	AGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	5	0	0	0	1	0	17	5					G	7577099	C	G	7577099	3	3	36	1	0	0	0	0	1	0	0	0	16396	913	32	2	447	2	TP53	17	7577099	Missense_Mutation	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08		7577099	73618111	37	3348										
HDAC5	10014	broad.mit.edu	37	chr17	42171102	42171102	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	cgcagtgtggggtccacagaGcccaccagagccccccgtag	13	16	0	2			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr17:42171102G>A	ENST00000393622.2	-	4	526	c.195C>T	c.(193-195)ggC>ggT	p.G65G	HDAC5_ENST00000225983.6_Silent_p.G66G|HDAC5_ENST00000336057.5_Silent_p.G65G|HDAC5_ENST00000586802.1_Silent_p.G65G	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	65					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GGTCCACAGAGCCCACCAGAG	0.667																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(196-198)ggC>ggT		histone deacetylase 5							13	14	14					17																	42171102		2198	4296	6494	SO:0001819	synonymous_variant	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42171102G>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.195C>T	17.37:g.42171102G>A			Somatic				HDAC5_ENST00000336057.5_Silent_p.G65G|HDAC5_ENST00000393622.2_Silent_p.G65G|HDAC5_ENST00000586802.1_Silent_p.G65G	p.G66G			WXS	Illumina GAIIx	Phase_I	Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	4	521	-		Breast(137;0.00637)|Prostate(33;0.0313)	65					C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	ENST00000393622.2	37	c.198C>T	CCDS45696.1																																																																																				0.667	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		7	1	0	0	0	1	0	7	1					A	42171102	G	A	42171102	2	1	36	1	0	0	0	0	0	0	0	1	7019	958	34	3		3	HDAC5	17	42171102	Silent	SNP	G	TCGA-N9-A4Q4-01A-11D-A28R-08	34594003	42171102	39024108	38	3349										
ATP8B3	148229	broad.mit.edu	37	chr19	1802551	1802551	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	tgcagcctcggaggaggaggTtgccaatgtccagggagtat	16	8	0	0	rs142875994		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:1802551T>A	ENST00000310127.6	-	11	1236	c.998A>T	c.(997-999)aAc>aTc	p.N333I	ATP8B3_ENST00000539485.1_Missense_Mutation_p.N333I|ATP8B3_ENST00000525591.1_Missense_Mutation_p.N280I|ATP8B3_ENST00000526092.2_Missense_Mutation_p.N280I	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	333					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGAGGAGGTTGCCAATGTC	0.572																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(997-999)aAc>aTc		ATPase, aminophospholipid transporter, class I, type 8B, member 3							135	145	142					19																	1802551		2120	4241	6361	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1802551T>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.998A>T	19.37:g.1802551T>A	ENSP00000311336:p.Asn333Ile		Somatic				ATP8B3_ENST00000526092.1_Missense_Mutation_p.N280I|ATP8B3_ENST00000310127.6_Missense_Mutation_p.N333I|ATP8B3_ENST00000525591.1_Missense_Mutation_p.N280I	p.N333I			WXS	Illumina GAIIx	Phase_I	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1231	-		Hepatocellular(1079;0.137)	333					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.998A>T	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	t	17.69	3.451349	0.63290	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	3.72	3.72	0.42706	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.402668	0.29246	U	0.012703	D	0.95962	0.8685	H	0.95470	3.675	0.27284	N	0.958016	D;D;D	0.64830	0.988;0.994;0.979	P;D;P	0.63597	0.735;0.916;0.845	D	0.90421	0.4417	10	0.72032	D	0.01	.	4.5057	0.11887	0.0:0.2476:0.0:0.7524	.	280;333;280	F5H3R9;O60423;Q7Z485	.;AT8B3_HUMAN;.	I	333;333;280;280;280	ENSP00000311336:N333I;ENSP00000443574:N333I;ENSP00000437115:N280I;ENSP00000445204:N280I	ENSP00000311336:N333I	N	-	2	0	ATP8B3	1753551	0.997000	0.39634	0.969000	0.41365	0.900000	0.52787	2.017000	0.40981	1.569000	0.49696	0.370000	0.22315	AAC		0.572	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		11	21	0	0	0	1	0	11	21					A	1802551	T	A	1802551	3	1	36	1	0	0	0	0	1	0	0	0	1196	1725	60	4	3028	4	ATP8B3	19	1802551	Missense_Mutation	SNP	T	TCGA-N9-A4Q4-01A-11D-A28R-08		1802551	57326432	39	3350										
ATP8B3	148229	broad.mit.edu	37	chr19	1802613	1802613	+	Silent	SNP	C	C	A													0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	caccccacgaagtggtgcatCcgactgttaggcgcctcaca							TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:1802613C>A	ENST00000310127.6	-	11	1174	c.936G>T	c.(934-936)cgG>cgT	p.R312R	ATP8B3_ENST00000539485.1_Silent_p.R312R|ATP8B3_ENST00000525591.1_Silent_p.R259R|ATP8B3_ENST00000526092.2_Silent_p.R259R	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	312					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGGTGCATCCGACTGTTAG	0.607																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(934-936)cgG>cgT		ATPase, aminophospholipid transporter, class I, type 8B, member 3							96	103	101					19																	1802613		2107	4229	6336	SO:0001819	synonymous_variant	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1802613C>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.936G>T	19.37:g.1802613C>A			Somatic				ATP8B3_ENST00000526092.1_Silent_p.R259R|ATP8B3_ENST00000310127.6_Silent_p.R312R|ATP8B3_ENST00000525591.1_Silent_p.R259R	p.R312R			WXS	Illumina GAIIx	Phase_I	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1169	-		Hepatocellular(1079;0.137)	312					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	c.936G>T	CCDS45901.1																																																																																				0.607	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		5	5	1	0	0.000602214	1	0.000611203	5	5					A	1802613	C	A	1802613	2	1	36	1	0	0	0	0	0	0	0	1	1196	842	30	2		2	ATP8B3	19	1802613	Silent	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08	62	1802613	57326370	40	3351	12	2								
ATP8B3	148229	broad.mit.edu	37	chr19	1802614	1802614	+	Missense_Mutation	SNP	C	C	A													0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	accccacgaagtggtgcatcCgactgttaggcgcctcacac					rs572936091		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:1802614C>A	ENST00000310127.6	-	11	1173	c.935G>T	c.(934-936)cGg>cTg	p.R312L	ATP8B3_ENST00000539485.1_Missense_Mutation_p.R312L|ATP8B3_ENST00000525591.1_Missense_Mutation_p.R259L|ATP8B3_ENST00000526092.2_Missense_Mutation_p.R259L	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	312					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGTGCATCCGACTGTTAGG	0.612																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(934-936)cGg>cTg		ATPase, aminophospholipid transporter, class I, type 8B, member 3							95	101	99					19																	1802614		2104	4230	6334	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1802614C>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.935G>T	19.37:g.1802614C>A	ENSP00000311336:p.Arg312Leu		Somatic				ATP8B3_ENST00000526092.1_Missense_Mutation_p.R259L|ATP8B3_ENST00000310127.6_Missense_Mutation_p.R312L|ATP8B3_ENST00000525591.1_Missense_Mutation_p.R259L	p.R312L			WXS	Illumina GAIIx	Phase_I	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1168	-		Hepatocellular(1079;0.137)	312					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.935G>T	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	c	12.89	2.072553	0.36566	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	3.72	1.53	0.23141	ATPase, P-type, ATPase-associated domain (1);	0.481828	0.23175	U	0.051081	T	0.66056	0.2751	L	0.49640	1.575	0.27182	N	0.960649	D;P;P	0.54601	0.967;0.695;0.867	P;B;P	0.45506	0.456;0.306;0.483	T	0.58250	-0.7669	10	0.34782	T	0.22	.	6.7172	0.23310	0.0:0.6929:0.0:0.3071	.	259;312;259	F5H3R9;O60423;Q7Z485	.;AT8B3_HUMAN;.	L	312;312;259;259;259	ENSP00000311336:R312L;ENSP00000443574:R312L;ENSP00000437115:R259L;ENSP00000445204:R259L	ENSP00000311336:R312L	R	-	2	0	ATP8B3	1753614	0.068000	0.21057	0.562000	0.28370	0.009000	0.06853	0.810000	0.27183	0.264000	0.21851	0.450000	0.29827	CGG		0.612	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		5	5	1	0	0.000602214	1	0.000611203	5	5					A	1802614	C	A	1802614	3	1	36	1	0	0	0	0	1	0	0	0	1196	652	23	5	3091	5	ATP8B3	19	1802614	Missense_Mutation	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08	1	1802614	57326369	41	3352	12	2								
LRRC8E	80131	broad.mit.edu	37	chr19	7964528	7964528	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	gcacctcatcgatcagtacgActccctctactccaagcgct	6	17	3	0			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:7964528A>C	ENST00000306708.6	+	3	1222	c.1121A>C	c.(1120-1122)gAc>gCc	p.D374A	AC010336.1_ENST00000539278.1_3'UTR|RN7SL115P_ENST00000392196.5_RNA	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	374					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GATCAGTACGACTCCCTCTAC	0.567																																						ENST00000306708.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						c.(1120-1122)gAc>gCc		leucine rich repeat containing 8 family, member E							98	73	82					19																	7964528		2203	4300	6503	SO:0001583	missense	80131					integral to membrane		g.chr19:7964528A>C		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1121A>C	19.37:g.7964528A>C	ENSP00000306524:p.Asp374Ala		Somatic				AC010336.1_ENST00000539278.1_3'UTR	p.D374A	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	WXS	Illumina GAIIx	Phase_I	Q6NSJ5	LRC8E_HUMAN			3	1222	+			374					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	c.1121A>C	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.046146	0.55110	.	.	ENSG00000171017	ENST00000306708	T	0.24723	1.84	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.52709	0.1751	M	0.83692	2.655	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.59473	-0.7448	10	0.87932	D	0	.	12.236	0.54516	1.0:0.0:0.0:0.0	.	374	Q6NSJ5	LRC8E_HUMAN	A	374	ENSP00000306524:D374A	ENSP00000306524:D374A	D	+	2	0	LRRC8E	7870528	1.000000	0.71417	0.998000	0.56505	0.607000	0.37147	9.133000	0.94460	1.999000	0.58509	0.454000	0.30748	GAC		0.567	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		36	1	0	0	0	1	0	36	1					C	7964528	A	C	7964528	3	2	36	1	0	0	0	0	1	0	0	0	9034	275	10	4	1127	4	LRRC8E	19	7964528	Missense_Mutation	SNP	A	TCGA-N9-A4Q4-01A-11D-A28R-08	6161914	7964528	51164455	42	3353										
ZNF780B	163131	broad.mit.edu	37	chr19	40541792	40541792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	gtttctcgccagtatgaattCggcaatgttcaatgagttgg	11	7	2	2			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:40541792C>T	ENST00000434248.1	-	5	1039	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	ZNF780B_ENST00000221355.6_Missense_Mutation_p.R177Q	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGTATGAATTCGGCAATGTTC	0.388																																						ENST00000434248.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(973-975)cGa>cAa		zinc finger protein 780B							95	95	95					19																	40541792		2203	4300	6503	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40541792C>T	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"Zinc fingers, C2H2-type", "-"	33109	protein-coding gene	gene with protein product			"zinc finger protein 779"	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.974G>A	19.37:g.40541792C>T	ENSP00000391641:p.Arg325Gln		Somatic				ZNF780B_ENST00000221355.6_Missense_Mutation_p.R177Q	p.R325Q	NM_001005851.2	NP_001005851.1	WXS	Illumina GAIIx	Phase_I	Q9Y6R6	Z780B_HUMAN			5	1039	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		325					B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.974G>A	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	c	9.614	1.132058	0.21041	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.24723	1.84;1.84	2.21	-4.42	0.03579	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22551	0.0544	M	0.66439	2.03	0.09310	N	1	B	0.17038	0.02	B	0.13407	0.009	T	0.13442	-1.0509	9	0.66056	D	0.02	.	4.8658	0.13607	0.1407:0.4777:0.0:0.3816	.	325	Q9Y6R6	Z780B_HUMAN	Q	325;177	ENSP00000391641:R325Q;ENSP00000221355:R177Q	ENSP00000221355:R177Q	R	-	2	0	ZNF780B	45233632	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.614000	0.05604	-3.434000	0.00164	-4.181000	0.00010	CGA		0.388	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		27	80	0	0	0	1	0	27	80					T	40541792	C	T	40541792	3	4	36	1	0	0	0	0	1	0	0	0	18168	884	31	1	1531	1	ZNF780B	19	40541792	Missense_Mutation	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08	32577264	40541792	18587191	43	3354										
GRIK5	2901	broad.mit.edu	37	chr19	42509903	42509903	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	atgccaatgccgtagcccttGgtgtcgaggagtcccccgat	12	13	0	0			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:42509903G>T	ENST00000262895.3	-	16	2234	c.2235C>A	c.(2233-2235)acC>acA	p.T745T	GRIK5_ENST00000593562.1_Silent_p.T745T|GRIK5_ENST00000301218.4_Silent_p.T745T	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	745					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CGTAGCCCTTGGTGTCGAGGA	0.627																																						ENST00000262895.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2233-2235)acC>acA		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)						95	65	75					19																	42509903		2203	4300	6503	SO:0001819	synonymous_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42509903G>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.2235C>A	19.37:g.42509903G>T			Somatic				GRIK5_ENST00000301218.4_Silent_p.T745T|GRIK5_ENST00000593562.1_Silent_p.T745T	p.T745T	NM_002088.4	NP_002079.3	WXS	Illumina GAIIx	Phase_I	Q16478	GRIK5_HUMAN			16	2234	-		Prostate(69;0.059)	745					Q8WWG8	Silent	SNP	ENST00000262895.3	37	c.2235C>A	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371399	0.24771	.	.	ENSG00000105737	ENST00000454993	.	.	.	5.23	4.12	0.48240	.	.	.	.	.	T	0.64549	0.2608	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63019	-0.6730	4	.	.	.	.	13.4946	0.61416	0.0:0.0:0.8429:0.1571	.	.	.	.	K	122	.	.	Q	-	1	0	GRIK5	47201743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.698000	0.74608	2.450000	0.82876	0.563000	0.77884	CAA		0.627	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			17	29	1	0	3.99206e-14	1	4.60102e-14	17	29					T	42509903	G	T	42509903	2	4	36	1	0	0	0	0	0	0	0	1	6786	1335	47	5		5	GRIK5	19	42509903	Silent	SNP	G	TCGA-N9-A4Q4-01A-11D-A28R-08	1968111	42509903	16619080	44	3355										
ZNF841	284371	broad.mit.edu	37	chr19	52569974	52569974	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	actgtctgatgagttgcaagAgaggaactttgactaaagca	11	6	1	4			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:52569974A>T	ENST00000426391.2	-	5	1364	c.813T>A	c.(811-813)tcT>tcA	p.S271S	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Silent_p.S387S|ZNF841_ENST00000389534.4_Silent_p.S387S|ZNF841_ENST00000359973.2_Silent_p.S271S			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GAGTTGCAAGAGAGGAACTTT	0.398																																						ENST00000389534.4																			0				breast(1)|endometrium(4)|kidney(3)|lung(3)	11						c.(1159-1161)tcT>tcA		zinc finger protein 841							129	115	119					19																	52569974		692	1591	2283	SO:0001819	synonymous_variant	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52569974A>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.813T>A	19.37:g.52569974A>T			Somatic				ZNF841_ENST00000594295.1_Silent_p.S387S|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Silent_p.S271S|ZNF841_ENST00000426391.2_Silent_p.S271S	p.S387S	NM_001136499.1	NP_001129971.1	WXS	Illumina GAIIx	Phase_I	Q6ZN19	ZN841_HUMAN			7	1620	-			271					B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Silent	SNP	ENST00000426391.2	37	c.1161T>A																																																																																					0.398	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		16	7	0	0	0	1	0	16	7					T	52569974	A	T	52569974	2	4	36	1	0	0	0	0	0	0	0	1	18204	291	11	4		4	ZNF841	19	52569974	Silent	SNP	A	TCGA-N9-A4Q4-01A-11D-A28R-08	10060071	52569974	6559009	45	3356										
KIR3DL2	3812	broad.mit.edu	37	chr19	55363703	55363703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	cactccctcactgggtggtcGgcacccagcaaccccctggt	10	18	1	0	rs370791268		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:55363703G>A	ENST00000326321.3	+	3	354	c.321G>A	c.(319-321)tcG>tcA	p.S107S	KIR3DL2_ENST00000270442.5_Silent_p.S107S|KIR3DL1_ENST00000402254.2_Intron	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	107					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTGGGTGGTCGGCACCCAGCA	0.597																																						ENST00000326321.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(319-321)tcG>tcA		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2		G		1,4325		0,1,2162	88	77	81		321	-0.5	0	19		81	1,8257		0,1,4128	no	coding-synonymous	KIR3DL2	NM_006737.3		0,2,6290	AA,AG,GG		0.0121,0.0231,0.0159		107/456	55363703	2,12582	2163	4129	6292	SO:0001819	synonymous_variant	3812				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55363703G>A	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.321G>A	19.37:g.55363703G>A			Somatic				KIR3DL2_ENST00000270442.5_Silent_p.S107S|KIR3DL1_ENST00000402254.2_Intron	p.S107S	NM_006737.3	NP_006728.2	WXS	Illumina GAIIx	Phase_I	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	354	+			107					Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Silent	SNP	ENST00000326321.3	37	c.321G>A	CCDS12906.1																																																																																				0.597	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			81	3	0	0	0	1	0	81	3					A	55363703	G	A	55363703	2	1	36	1	0	0	0	0	0	0	0	1	8330	1103	39	1		1	KIR3DL2	19	55363703	Silent	SNP	G	TCGA-N9-A4Q4-01A-11D-A28R-08	2793729	55363703	3765280	46	3357										
GATSL3	652968	broad.mit.edu	37	chr22	30682353	30682353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	tcaggactgctagaggctgcCtccttgggggtgctggggag	18	9	1	1			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr22:30682353C>T	ENST00000407689.3	-	6	771	c.642G>A	c.(640-642)gaG>gaA	p.E214E	GATSL3_ENST00000459785.1_Intron|GATSL3_ENST00000404953.3_Intron|RP1-130H16.18_ENST00000447976.1_3'UTR	NM_001037666.2	NP_001032755.1	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	214										breast(1)|endometrium(1)|lung(1)	3						TAGAGGCTGCCTCCTTGGGGG	0.572																																						ENST00000407689.3																			0				breast(1)|endometrium(1)|lung(1)	3						c.(640-642)gaG>gaA		GATS protein-like 3							64	78	73					22																	30682353		2077	4210	6287	SO:0001819	synonymous_variant	652968							g.chr22:30682353C>T		CCDS43001.1	22q12	2010-06-23			ENSG00000239282	ENSG00000239282			34423	protein-coding gene	gene with protein product							Standard	NM_001037666		Approved			Q8WTX7	OTTHUMG00000150929	ENST00000407689.3:c.642G>A	22.37:g.30682353C>T			Somatic				GATSL3_ENST00000404953.3_Intron|RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000459785.1_Intron	p.E214E	NM_001037666.2	NP_001032755.1	WXS	Illumina GAIIx	Phase_I					6	771	-								O76052|Q96ND9|Q9UIE8	Silent	SNP	ENST00000407689.3	37	c.642G>A	CCDS43001.1																																																																																				0.572	GATSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320581.2	NM_001037666		34	2	0	0	0	1	0	34	2					T	30682353	C	T	30682353	2	4	36	1	0	0	0	0	0	0	0	1	6273	680	24	3		3	GATSL3	22	30682353	Silent	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08		30682353	20622213	47	3358										
NLGN4X	57502	broad.mit.edu	37	chrX	5821878	5821878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	ccagctggacagggcggtgcCgctctgaatgatggccttct	14	12	2	2			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chrX:5821878C>T	ENST00000381095.3	-	5	1468	c.841G>A	c.(841-843)Ggc>Agc	p.G281S	NLGN4X_ENST00000381092.1_Missense_Mutation_p.G281S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G281S|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G281S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G301S	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	281					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGGGCGGTGCCGCTCTGAATG	0.532																																						ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(841-843)Ggc>Agc		neuroligin 4, X-linked							81	67	72					X																	5821878		2203	4300	6503	SO:0001583	missense	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:5821878C>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.841G>A	X.37:g.5821878C>T	ENSP00000370485:p.Gly281Ser		Somatic				NLGN4X_ENST00000538097.1_Missense_Mutation_p.G281S|NLGN4X_ENST00000381092.1_Missense_Mutation_p.G281S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G281S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G301S	p.G281S	NM_181332.1	NP_851849.1	WXS	Illumina GAIIx	Phase_I	Q8N0W4	NLGNX_HUMAN			5	1468	-			281					Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.841G>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545890	0.86022	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	3.79	3.79	0.43588	Carboxylesterase, type B (1);	.	.	.	.	D	0.92309	0.7560	M	0.91510	3.215	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	0.93836	0.7132	8	.	.	.	.	14.2026	0.65714	0.0:1.0:0.0:0.0	.	338;281;301	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	S	281;301;281;281;281	ENSP00000370485:G281S;ENSP00000370483:G301S;ENSP00000275857:G281S;ENSP00000370482:G281S;ENSP00000439203:G281S	.	G	-	1	0	NLGN4X	5831878	1.000000	0.71417	0.981000	0.43875	0.956000	0.61745	6.718000	0.74713	1.503000	0.48686	0.600000	0.82982	GGC		0.532	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		12	73	0	0	0	1	0	12	73					T	5821878	C	T	5821878	3	4	36	1	0	0	0	0	1	0	0	0	10473	652	23	1	1617	1	NLGN4X	23	5821878	Missense_Mutation	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08		5821878	149448682	48	3359										
FRMPD4	9758	broad.mit.edu	37	chrX	12735885	12735885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	aggccagcaaccgacctcccGcccaaagttgtgccttccaa	8	17	0	0			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chrX:12735885G>A	ENST00000380682.1	+	16	3446	c.2940G>A	c.(2938-2940)ccG>ccA	p.P980P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	980					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCGACCTCCCGCCCAAAGTTG	0.572																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(2938-2940)ccG>ccA		FERM and PDZ domain containing 4							56	55	55					X																	12735885		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12735885G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2940G>A	X.37:g.12735885G>A			Somatic					p.P980P	NM_014728.3	NP_055543.2	WXS	Illumina GAIIx	Phase_I	Q14CM0	FRPD4_HUMAN			16	3446	+			980					A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.2940G>A	CCDS35201.1																																																																																				0.572	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		106	50	0	0	0	1	0	106	50					A	12735885	G	A	12735885	2	1	36	1	0	0	0	0	0	0	0	1	6067	1074	38	1		1	FRMPD4	23	12735885	Silent	SNP	G	TCGA-N9-A4Q4-01A-11D-A28R-08	6914007	12735885	142534675	49	3360										
WDR13	64743	broad.mit.edu	37	chrX	48458032	48458032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	gcaagtcgggccatggccggGgacacgtcactgagcgagaa	16	11	1	2			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chrX:48458032G>A	ENST00000218056.5	+	4	955	c.450G>A	c.(448-450)ggG>ggA	p.G150G	WDR13_ENST00000376729.5_Silent_p.G150G|WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	150						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CCATGGCCGGGGACACGTCAC	0.617																																						ENST00000218056.5																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						c.(448-450)ggG>ggA		WD repeat domain 13							101	84	90					X																	48458032		2203	4300	6503	SO:0001819	synonymous_variant	64743					cytoplasm|nucleus		g.chrX:48458032G>A	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.450G>A	X.37:g.48458032G>A			Somatic				WDR13_ENST00000492715.1_3'UTR	p.G150G	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	WXS	Illumina GAIIx	Phase_I	Q9H1Z4	WDR13_HUMAN			4	955	+			150					Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Silent	SNP	ENST00000218056.5	37	c.450G>A	CCDS14302.1																																																																																				0.617	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			23	52	0	0	0	1	0	23	52					A	48458032	G	A	48458032	2	1	36	1	0	0	0	0	0	0	0	1	17290	1219	43	3		3	WDR13	23	48458032	Silent	SNP	G	TCGA-N9-A4Q4-01A-11D-A28R-08	35722147	48458032	106812528	50	3361										
LPAR4	2846	broad.mit.edu	37	chrX	78010756	78010756	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	gggagcatgctctttctcacCtgtattagtgtggatcgttt	11	8	2	0			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chrX:78010756C>A	ENST00000435339.3	+	2	776	c.390C>A	c.(388-390)acC>acA	p.T130T		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	130					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						TCTTTCTCACCTGTATTAGTG	0.468																																						ENST00000435339.2																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(388-390)acC>acA		lysophosphatidic acid receptor 4							227	168	188					X																	78010756		2203	4299	6502	SO:0001819	synonymous_variant	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010756C>A	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.390C>A	X.37:g.78010756C>A			Somatic				LPAR4_ENST00000373301.2_Silent_p.T130T	p.T130T	NM_005296.2	NP_005287.1	WXS	Illumina GAIIx	Phase_I	Q99677	LPAR4_HUMAN			2	795	+			130					B2RAC7|O15132|Q502U9|Q6NSP5	Silent	SNP	ENST00000435339.3	37	c.390C>A	CCDS14441.1																																																																																				0.468	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		60	50	1	0	9.59835e-30	1	1.20868e-29	60	50					A	78010756	C	A	78010756	2	1	36	1	0	0	0	0	0	0	0	1	8916	668	24	5		5	LPAR4	23	78010756	Silent	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08	29552724	78010756	77259804	51	3362										
SOX3	6658	broad.mit.edu	37	chrX	139586343	139586343	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	gcggtgcatcggcggcagcgCgggcggcggcggcgggctgc	23	13	0	0			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chrX:139586343C>T	ENST00000370536.2	-	1	882	c.883G>A	c.(883-885)Gcg>Acg	p.A295T		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	295					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					ggcggcagcgcgggcggcggc	0.726																																						ENST00000370536.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10						c.(883-885)Gcg>Acg		SRY (sex determining region Y)-box 3							2	2	2					X																	139586343		1369	2818	4187	SO:0001583	missense	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139586343C>T		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"SRY (sex determining region Y)-boxes"	11199	protein-coding gene	gene with protein product		313430	"panhypopituitarism"	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.883G>A	X.37:g.139586343C>T	ENSP00000359567:p.Ala295Thr		Somatic					p.A295T	NM_005634.2	NP_005625.2	WXS	Illumina GAIIx	Phase_I	P41225	SOX3_HUMAN			1	882	-	Acute lymphoblastic leukemia(192;7.65e-05)		295					P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP	ENST00000370536.2	37	c.883G>A	CCDS14669.1	.	.	.	.	.	.	.	.	.	.	c	7.687	0.690300	0.15039	.	.	ENSG00000134595	ENST00000370536	D	0.98028	-4.67	2.48	1.6	0.23607	.	.	.	.	.	D	0.89431	0.6713	N	0.08118	0	0.24039	N	0.996087	P	0.42375	0.778	B	0.31614	0.133	D	0.85244	0.1040	8	.	.	.	.	4.6151	0.12422	0.0:0.8046:0.0:0.1954	.	295	P41225	SOX3_HUMAN	T	295	ENSP00000359567:A295T	.	A	-	1	0	SOX3	139414009	1.000000	0.71417	0.913000	0.36048	0.294000	0.27393	0.849000	0.27723	0.461000	0.27071	0.173000	0.16961	GCG		0.726	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			5	5	0	0	0	1	0	5	5					T	139586343	C	T	139586343	3	4	36	1	0	0	0	0	1	0	0	0	14966	768	27	1	461	1	SOX3	23	139586343	Missense_Mutation	SNP	C	TCGA-N9-A4Q4-01A-11D-A28R-08	61575587	139586343	15684217	52	3363										
PNMA3	29944	broad.mit.edu	37	chrX	152226402	152226402	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0384615384615385	2	1	0.755847953216374	3.6280701754386	0	0.428571428571429	1	0	ctggccctggtgaagctcctGcgtgaggaggaggaatggga	18	8	0	2			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chrX:152226402G>T	ENST00000370264.4	+	1	1016	c.990G>T	c.(988-990)ctG>ctT	p.L330L	PNMA3_ENST00000370265.4_Silent_p.L330L|PNMA3_ENST00000447306.1_Silent_p.L330L			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	330					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					tgaagctcctgcgtgaggagg	0.572																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(988-990)ctG>ctT		paraneoplastic Ma antigen 3							37	39	39					X																	152226402		2203	4300	6503	SO:0001819	synonymous_variant	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226402G>T	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"Paraneoplastic Ma antigens"	18742	protein-coding gene	gene with protein product	"paraneoplastic cancer-testis-brain antigen"	300675	"paraneoplastic antigen MA3"			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.990G>T	X.37:g.152226402G>T			Somatic				PNMA3_ENST00000370264.4_Silent_p.L330L|PNMA3_ENST00000370265.4_Silent_p.L330L	p.L330L	NM_013364.4	NP_037496.3	WXS	Illumina GAIIx	Phase_I	Q9UL41	PNMA3_HUMAN			2	1326	+	Acute lymphoblastic leukemia(192;6.56e-05)		330					D3DWT7|Q9H0A4	Silent	SNP	ENST00000370264.4	37	c.990G>T	CCDS35435.2																																																																																				0.572	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		14	55	1	0	1.5842e-08	1	1.70993e-08	14	55					T	152226402	G	T	152226402	2	4	36	1	0	0	0	0	0	0	0	1	12164	1306	46	5		5	PNMA3	23	152226402	Silent	SNP	G	TCGA-N9-A4Q4-01A-11D-A28R-08	12640059	152226402	3044158	53	3364										
SDF4	51150	broad.mit.edu	37	chr1	1152961	1152961	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gtgaagaactcgctgtacttGagcacctcctcgggctccag	11	13	0	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:1152961G>C	ENST00000360001.6	-	7	1282	c.1020C>G	c.(1018-1020)ctC>ctG	p.L340L	SDF4_ENST00000263741.7_3'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	340	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Necessary for intracellular retention in Golgi apparatus lumen. {ECO:0000250}.				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)		CGCTGTACTTGAGCACCTCCT	0.662																																						ENST00000360001.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1018-1020)ctC>ctG		stromal cell derived factor 4							92	96	95					1																	1152961		2203	4299	6502	SO:0001819	synonymous_variant	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.chr1:1152961G>C		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.1020C>G	1.37:g.1152961G>C			Somatic				SDF4_ENST00000263741.7_3'UTR	p.L340L			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)	7	1282	-	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)	340			EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Silent	SNP	ENST00000360001.6	37	c.1020C>G	CCDS30553.1																																																																																				0.662	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		9	60	0	0	0	1	0	9	60					C	1152961	G	C	1152961	2	2	37	1	0	0	0	0	0	0	0	1	13977	1277	45	2		2	SDF4	1	1152961	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08		1152961	248097660	1	3365										
PTCHD2	57540	broad.mit.edu	37	chr1	11589956	11589956	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ggggccatggtctttgtggtCttcggcattattggcgtcaa	14	8	3	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:11589956C>G	ENST00000294484.6	+	15	3180	c.3042C>G	c.(3040-3042)gtC>gtG	p.V1014V	PTCHD2_ENST00000389575.3_Silent_p.V1014V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1014					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCTTTGTGGTCTTCGGCATTA	0.647																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(3040-3042)gtC>gtG		patched domain containing 2							89	104	99					1																	11589956		1985	4152	6137	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11589956C>G	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3042C>G	1.37:g.11589956C>G			Somatic				PTCHD2_ENST00000389575.3_Silent_p.V1014V	p.V1014V	NM_020780.1	NP_065831.1	WXS	Illumina GAIIx	Phase_I	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	15	3180	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1014					Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.3042C>G	CCDS41247.1																																																																																				0.647	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		10	85	0	0	0	1	0	10	85					G	11589956	C	G	11589956	2	3	37	1	0	0	0	0	0	0	0	1	12745	900	32	2		2	PTCHD2	1	11589956	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	10436995	11589956	237660665	2	3366										
VPS13D	55187	broad.mit.edu	37	chr1	12401942	12401942	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cctgaccaccacacccaccaGgtaagcagtcagtttatatt	6	14	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:12401942G>C	ENST00000358136.3	+	41	8862	c.8732G>C	c.(8731-8733)aGa>aCa	p.R2911T	VPS13D_ENST00000356315.4_Splice_Site_p.R2886T	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)		ACACCCACCAGGTAAGCAGTC	0.577																																						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.e41+1		vacuolar protein sorting 13 homolog D (S. cerevisiae)							77	76	76					1																	12401942		2203	4300	6503	SO:0001630	splice_region_variant	55187				protein localization			g.chr1:12401942G>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.8732+1G>C	1.37:g.12401942G>C			Somatic				VPS13D_ENST00000356315.4_Splice_Site_p.R2886_splice	p.R2911_splice	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)	41	8862	+	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)	2910						Splice_Site	SNP	ENST00000358136.3	37	c.8732_splice	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.65|18.65	3.669348|3.669348	0.67814|0.67814	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.50277	.|0.75;0.75	5.74|5.74	4.81|4.81	0.61882|0.61882	.|.	.|0.045467	.|0.85682	.|N	.|0.000000	T|T	0.37999|0.37999	0.1024|0.1024	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|P;B	.|0.38280	.|0.625;0.078	.|B;B	.|0.36418	.|0.224;0.018	T|T	0.11348|0.11348	-1.0591|-1.0591	5|10	.|0.14656	.|T	.|0.56	.|.	16.6872|16.6872	0.85311|0.85311	0.0:0.1298:0.8702:0.0|0.0:0.1298:0.8702:0.0	.|.	.|2886;2910	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	Q|T	1733|2886;2911	.|ENSP00000348666:R2886T;ENSP00000350854:R2911T	.|ENSP00000348666:R2886T	E|R	+|+	1|2	0|0	VPS13D|VPS13D	12324529|12324529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	9.397000|9.397000	0.97276|0.97276	1.398000|1.398000	0.46701|0.46701	0.591000|0.591000	0.81541|0.81541	GAG|AGA		0.577	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	Missense_Mutation	11	88	0	0	0	1	0	11	88					C	12401942	G	C	12401942	5	2	37	1	0	0	0	0	0	0	1	0	17207	1014	35	5	8890	5	VPS13D	1	12401942	Splice_Site	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	811986	12401942	236848679	3	3367										
YARS	8565	broad.mit.edu	37	chr1	33245077	33245077	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	acacgtgctcaccaggagcaGagcctgccggagggtccaga	14	13	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:33245077G>C	ENST00000373477.4	-	12	2290	c.1382C>G	c.(1381-1383)tCt>tGt	p.S461C	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	461	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	ACCAGGAGCAGAGCCTGCCGG	0.527																																						ENST00000373477.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15						c.(1381-1383)tCt>tGt		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						92	90	91					1																	33245077		2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33245077G>C	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	12840	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 1, cytoplasmic"	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1382C>G	1.37:g.33245077G>C	ENSP00000362576:p.Ser461Cys		Somatic				YARS_ENST00000469100.1_5'UTR	p.S461C	NM_003680.3	NP_003671.1	WXS	Illumina GAIIx	Phase_I	P54577	SYYC_HUMAN			12	2290	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	461			tRNA-binding.		B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.1382C>G	CCDS368.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271188	0.59649	.	.	ENSG00000134684	ENST00000373477	T	0.74002	-0.8	5.65	5.65	0.86999	Nucleic acid-binding, OB-fold-like (1);tRNA-binding domain (2);Nucleic acid-binding, OB-fold (1);	0.048199	0.85682	D	0.000000	T	0.70290	0.3207	L	0.49455	1.56	0.80722	D	1	B	0.23735	0.09	B	0.20955	0.032	T	0.65747	-0.6093	10	0.42905	T	0.14	-14.8126	16.6009	0.84815	0.0:0.1384:0.8616:0.0	.	461	P54577	SYYC_HUMAN	C	461	ENSP00000362576:S461C	ENSP00000362576:S461C	S	-	2	0	YARS	33017664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.835000	0.97688	0.650000	0.86243	TCT		0.527	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		8	66	0	0	0	1	0	8	66					C	33245077	G	C	33245077	3	2	37	1	0	0	0	0	1	0	0	0	17482	942	33	2	212	2	YARS	1	33245077	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	20843135	33245077	216005544	4	3368										
TFAP2E	339488	broad.mit.edu	37	chr1	36060202	36060202	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tcactcaaggggctggacaaGatgtttctaagcagtgtggg	14	7	3	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:36060202G>C	ENST00000373235.3	+	7	1462	c.1254G>C	c.(1252-1254)aaG>aaC	p.K418N		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)				GGCTGGACAAGATGTTTCTAA	0.542																																						ENST00000373235.3																			0				endometrium(1)|large_intestine(1)	2						c.(1252-1254)aaG>aaC		transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)							119	110	113					1																	36060202		2203	4300	6503	SO:0001583	missense	339488					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:36060202G>C	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.1254G>C	1.37:g.36060202G>C	ENSP00000362332:p.Lys418Asn		Somatic					p.K418N	NM_178548.3	NP_848643.2	WXS	Illumina GAIIx	Phase_I	Q6VUC0	AP2E_HUMAN			7	1462	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	418						Missense_Mutation	SNP	ENST00000373235.3	37	c.1254G>C	CCDS393.2	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679793	0.68042	.	.	ENSG00000116819	ENST00000373235	D	0.97924	-4.61	5.38	4.36	0.52297	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98264	0.9425	M	0.85630	2.765	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.98134	1.0432	10	0.87932	D	0	-16.3375	6.399	0.21628	0.215:0.0:0.785:0.0	.	418	Q6VUC0	AP2E_HUMAN	N	418	ENSP00000362332:K418N	ENSP00000362332:K418N	K	+	3	2	TFAP2E	35832789	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.215000	0.42862	2.512000	0.84698	0.561000	0.74099	AAG		0.542	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	NM_178548		16	128	0	0	0	1	0	16	128					C	36060202	G	C	36060202	3	2	37	1	0	0	0	0	1	0	0	0	15806	933	33	2	1280	2	TFAP2E	1	36060202	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	2815125	36060202	213190419	5	3369										
MACF1	23499	broad.mit.edu	37	chr1	39919466	39919466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tcctggctgtctgccaccccGattgcatcacaaccatcaaa	6	16	3	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:39919466G>A	ENST00000372915.3	+	87	20614	c.20527G>A	c.(20527-20529)Gat>Aat	p.D6843N	MACF1_ENST00000564288.1_Missense_Mutation_p.D6944N|MACF1_ENST00000539005.1_Missense_Mutation_p.D4755N|MACF1_ENST00000567887.1_Missense_Mutation_p.D6981N|MACF1_ENST00000317713.7_Missense_Mutation_p.D4885N|MACF1_ENST00000289893.4_Missense_Mutation_p.D5387N|MACF1_ENST00000545844.1_Missense_Mutation_p.D4885N|MACF1_ENST00000361689.2_Missense_Mutation_p.D4885N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6843					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)			CTGCCACCCCGATTGCATCAC	0.498																																						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.(20830-20832)Gat>Aat		microtubule-actin crosslinking factor 1							248	233	238					1																	39919466		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.chr1:39919466G>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.20527G>A	1.37:g.39919466G>A	ENSP00000362006:p.Asp6843Asn		Somatic				MACF1_ENST00000539005.1_Missense_Mutation_p.D4755N|MACF1_ENST00000361689.2_Missense_Mutation_p.D4885N|MACF1_ENST00000289893.4_Missense_Mutation_p.D5387N|MACF1_ENST00000317713.7_Missense_Mutation_p.D4885N|MACF1_ENST00000545844.1_Missense_Mutation_p.D4885N|MACF1_ENST00000372915.3_Missense_Mutation_p.D6843N|MACF1_ENST00000567887.1_Missense_Mutation_p.D6981N	p.D6944N			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)		88	21607	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6843					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.20830G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.884849|5.884849	0.97068|0.97068	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.50813|.	1.08;1.08;1.08;0.73;1.08;1.08|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	D|D	0.83538|0.83538	0.5276|0.5276	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|.	0.999;1.0|.	D|D	0.84437|0.84437	0.0580|0.0580	10|5	0.72032|.	D|.	0.01|.	.|.	19.8632|19.8632	0.96793|0.96793	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	6843;4885|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	N|Q	4885;6843;4885;4885;4755;5387|3888	ENSP00000439537:D4885N;ENSP00000362006:D6843N;ENSP00000354573:D4885N;ENSP00000313438:D4885N;ENSP00000444364:D4755N;ENSP00000289893:D5387N|.	ENSP00000289893:D5387N|.	D|R	+|+	1|2	0|0	MACF1|MACF1	39692053|39692053	1.000000|1.000000	0.71417|0.71417	0.554000|0.554000	0.28268|0.28268	0.982000|0.982000	0.71751|0.71751	9.869000|9.869000	0.99810|0.99810	2.704000|2.704000	0.92352|0.92352	0.561000|0.561000	0.74099|0.74099	GAT|CGA		0.498	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		93	194	0	0	0	1	0	93	194					A	39919466	G	A	39919466	3	1	37	1	0	0	0	0	1	0	0	0	9153	1058	37	1	21138	1	MACF1	1	39919466	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	3859264	39919466	209331155	6	3370										
HIVEP3	59269	broad.mit.edu	37	chr1	42049679	42049679	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cccagggatccgctccatctCcagcccatgtgggtacatct	9	16	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:42049679C>G	ENST00000372583.1	-	4	1675	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	HIVEP3_ENST00000429157.2_Missense_Mutation_p.E264Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E264Q|HIVEP3_ENST00000372584.1_Missense_Mutation_p.E264Q	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	264	Acidic 1.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGCTCCATCTCCAGCCCATGT	0.572																																						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.(790-792)Gag>Cag		human immunodeficiency virus type I enhancer binding protein 3							64	61	62					1																	42049679		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42049679C>G	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.790G>C	1.37:g.42049679C>G	ENSP00000361664:p.Glu264Gln		Somatic				HIVEP3_ENST00000247584.5_Missense_Mutation_p.E264Q|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E264Q|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E264Q	p.E264Q	NM_001127714.2	NP_001121186.1	WXS	Illumina GAIIx	Phase_I	Q5T1R4	ZEP3_HUMAN			3	1804	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	264			Acidic 1.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.790G>C	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592984	0.66219	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	5.15	4.25	0.50352	.	0.116784	0.38605	N	0.001627	T	0.15782	0.0380	N	0.24115	0.695	0.43808	D	0.996368	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.977	T	0.04333	-1.0959	10	0.44086	T	0.13	-3.6772	13.2912	0.60272	0.0:0.9236:0.0:0.0764	.	264;264	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	Q	264	ENSP00000361665:E264Q;ENSP00000361664:E264Q;ENSP00000247584:E264Q;ENSP00000410828:E264Q	ENSP00000247584:E264Q	E	-	1	0	HIVEP3	41822266	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.604000	0.82830	1.417000	0.47077	0.655000	0.94253	GAG		0.572	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		9	76	0	0	0	1	0	9	76					G	42049679	C	G	42049679	3	3	37	1	0	0	0	0	1	0	0	0	7197	864	30	2	6454	2	HIVEP3	1	42049679	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	2130213	42049679	207200942	7	3371										
IPO13	9670	broad.mit.edu	37	chr1	44426880	44426880	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	agcctgcccactttcccccaAttgaggccctcttcctgctc	6	19	1	1	rs117692141		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:44426880A>G	ENST00000372343.3	+	14	2952	c.2290A>G	c.(2290-2292)Att>Gtt	p.I764V		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	764					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)				CTTTCCCCCAATTGAGGCCCT	0.587																																						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.(2290-2292)Att>Gtt		importin 13		A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	315	281	292		2290	4.2	1	1	dbSNP_133	292	2,8598	2.2+/-6.3	0,2,4298	yes	missense	IPO13	NM_014652.3	29	0,3,6500	GG,GA,AA		0.0233,0.0227,0.0231	benign	764/964	44426880	3,13003	2203	4300	6503	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44426880A>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.2290A>G	1.37:g.44426880A>G	ENSP00000361418:p.Ile764Val		Somatic					p.I764V	NM_014652.3	NP_055467.3	WXS	Illumina GAIIx	Phase_I	O94829	IPO13_HUMAN			14	2952	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	764					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.2290A>G	CCDS503.1	.	.	.	.	.	.	.	.	.	.	A	10.58	1.391140	0.25118	2.27E-4	2.33E-4	ENSG00000117408	ENST00000372343	T	0.68181	-0.31	5.33	4.2	0.49525	Armadillo-like helical (1);Armadillo-type fold (1);	0.049046	0.85682	N	0.000000	T	0.52306	0.1726	L	0.46157	1.445	0.58432	D	0.999998	B	0.28605	0.217	B	0.19666	0.026	T	0.43893	-0.9363	10	0.07482	T	0.82	-14.3237	11.0802	0.48055	0.9278:0.0:0.0722:0.0	.	764	O94829	IPO13_HUMAN	V	764	ENSP00000361418:I764V	ENSP00000361418:I764V	I	+	1	0	IPO13	44199467	1.000000	0.71417	0.983000	0.44433	0.990000	0.78478	5.195000	0.65131	1.043000	0.40175	0.533000	0.62120	ATT		0.587	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		37	358	0	0	0	1	0	37	358					G	44426880	A	G	44426880	3	3	37	1	0	0	0	0	1	0	0	0	7803	101	4	4	2344	4	IPO13	1	44426880	Missense_Mutation	SNP	A	TCGA-N9-A4Q7-01A-11D-A28R-08	2377201	44426880	204823741	8	3372										
ZSWIM5	57643	broad.mit.edu	37	chr1	45553866	45553867	+	Frame_Shift_Del	DEL	AG	AG	-													0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttataagtcactgctggttcAgaggcagtggccagctcagt							TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:45553866_45553867delAG	ENST00000359600.5	-	2	843_844	c.638_639delCT	c.(637-639)tctfs	p.S213fs	ZSWIM5_ENST00000464588.1_5'UTR	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	213						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)					CTGCTGGTTCAGAGGCAGTGGC	0.421																																						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.(637-639)tfs		zinc finger, SWIM-type containing 5																																				SO:0001589	frameshift_variant	57643						zinc ion binding	g.chr1:45553866_45553867delAG	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.638_639delCT	1.37:g.45553868_45553869delAG	ENSP00000352614:p.Ser213fs		Somatic				ZSWIM5_ENST00000464588.1_5'UTR	p.S213fs	NM_020883.1	NP_065934.1	WXS	Illumina GAIIx	Phase_I	Q9P217	ZSWM5_HUMAN			2	843_844	-	Acute lymphoblastic leukemia(166;0.155)		213					Q5SXQ9	Frame_Shift_Del	DEL	ENST00000359600.5	37	c.638_639delCT	CCDS41319.1																																																																																				0.421	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		7	61						7	61	---	---	---	---	-	45553867	AG	-	45553866	7	5	37	1	0	1	0	1	0	0	0	0	18259	175	7	0	2970	0	ZSWIM5	1	45553866	Frame_Shift_Del	DEL	AG	TCGA-N9-A4Q7-01A-11D-A28R-08	1126986	45553866	203696755	9	3373										
DHCR24	1718	broad.mit.edu	37	chr1	55349324	55349324	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tccacttccagaatgtccatCaggttgatcatgatgttttt	7	9	2	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:55349324C>G	ENST00000371269.3	-	2	452	c.354G>C	c.(352-354)ctG>ctC	p.L118L	DHCR24_ENST00000535035.1_Silent_p.L77L	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	118	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GAATGTCCATCAGGTTGATCA	0.537																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(352-354)ctG>ctC		24-dehydrocholesterol reductase							299	263	276					1																	55349324		2203	4300	6503	SO:0001819	synonymous_variant	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55349324C>G	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.354G>C	1.37:g.55349324C>G			Somatic				DHCR24_ENST00000535035.1_Silent_p.L77L	p.L118L	NM_014762.3	NP_055577.1	WXS	Illumina GAIIx	Phase_I	Q15392	DHC24_HUMAN			2	452	-			118			FAD-binding PCMH-type.		B7Z817|D3DQ51|Q9HBA8	Silent	SNP	ENST00000371269.3	37	c.354G>C	CCDS600.1																																																																																				0.537	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		26	211	0	0	0	1	0	26	211					G	55349324	C	G	55349324	2	3	37	1	0	0	0	0	0	0	0	1	4478	813	29	2		2	DHCR24	1	55349324	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	9795458	55349324	193901297	10	3374										
MYSM1	114803	broad.mit.edu	37	chr1	59132892	59132892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	actgttacatggttctgctgCacagacctataaacgattga	8	9	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:59132892C>T	ENST00000472487.1	-	16	1888	c.1849G>A	c.(1849-1851)Gca>Aca	p.A617T	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	617	MPN.				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)					GGTTCTGCTGCACAGACCTAT	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.(1849-1851)Gca>Aca		Myb-like, SWIRM and MPN domains 1							81	79	80					1																	59132892		1896	4113	6009	SO:0001583	missense	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.chr1:59132892C>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.1849G>A	1.37:g.59132892C>T	ENSP00000418734:p.Ala617Thr		Somatic				MYSM1_ENST00000493821.1_5'UTR	p.A617T	NM_001085487.2	NP_001078956.1	WXS	Illumina GAIIx	Phase_I	Q5VVJ2	MYSM1_HUMAN			16	1888	-	all_cancers(7;9.36e-06)		617			MPN.		A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.1849G>A	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139495	0.77775	.	.	ENSG00000162601	ENST00000472487	T	0.55588	0.51	5.17	5.17	0.71159	.	0.052179	0.85682	D	0.000000	T	0.55305	0.1912	L	0.52011	1.625	0.48395	D	0.99964	P	0.47034	0.889	P	0.46758	0.526	T	0.52555	-0.8560	10	0.34782	T	0.22	-17.8105	17.8318	0.88685	0.0:1.0:0.0:0.0	.	617	Q5VVJ2	MYSM1_HUMAN	T	617	ENSP00000418734:A617T	ENSP00000418734:A617T	A	-	1	0	MYSM1	58905480	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.575000	0.53870	2.693000	0.91896	0.563000	0.77884	GCA		0.378	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		5	35	0	0	0	1	0	5	35					T	59132892	C	T	59132892	3	4	37	1	0	0	0	0	1	0	0	0	10110	710	25	3	657	3	MYSM1	1	59132892	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	3783568	59132892	190117729	11	3375										
IFI44	10561	broad.mit.edu	37	chr1	79116090	79116090	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tatgcagaagagagttaccaGgaaggaaagtatgcttccat	11	6	0	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:79116090G>C	ENST00000370747.4	+	2	295	c.210G>C	c.(208-210)caG>caC	p.Q70H	IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	70					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AGAGTTACCAGGAAGGAAAGT	0.368																																						ENST00000370747.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(208-210)caG>caC		interferon-induced protein 44							155	155	155					1																	79116090		2203	4300	6503	SO:0001583	missense	10561				response to virus	cytoplasm		g.chr1:79116090G>C	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 5"	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.210G>C	1.37:g.79116090G>C	ENSP00000359783:p.Gln70His		Somatic				IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	p.Q70H	NM_006417.4	NP_006408.3	WXS	Illumina GAIIx	Phase_I	Q8TCB0	IFI44_HUMAN			2	295	+			70					B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	ENST00000370747.4	37	c.210G>C	CCDS688.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812857	0.32053	.	.	ENSG00000137965	ENST00000370747	T	0.42900	0.96	3.14	2.22	0.28083	TLDc (1);	0.828578	0.10664	N	0.648338	T	0.32164	0.0820	L	0.39898	1.24	0.09310	N	0.999998	D;D	0.65815	0.995;0.995	P;D	0.63703	0.879;0.917	T	0.06607	-1.0817	10	0.44086	T	0.13	.	6.0939	0.20008	0.1417:0.0:0.8583:0.0	.	70;70	B7ZB11;Q8TCB0	.;IFI44_HUMAN	H	70	ENSP00000359783:Q70H	ENSP00000359783:Q70H	Q	+	3	2	IFI44	78888678	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	-0.079000	0.11357	0.878000	0.35920	0.460000	0.39030	CAG		0.368	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		11	102	0	0	0	1	0	11	102					C	79116090	G	C	79116090	3	2	37	1	0	0	0	0	1	0	0	0	7526	991	35	5	212	5	IFI44	1	79116090	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	19983198	79116090	170134531	12	3376										
GNG5	2787	broad.mit.edu	37	chr1	84967543	84967543	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttttactacaaaaaggaacaGactttctggggtctgaaggg	11	6	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:84967543G>C	ENST00000370641.3	-	2	665	c.192C>G	c.(190-192)gtC>gtG	p.V64V	GNG5_ENST00000487806.1_5'UTR|GNG5_ENST00000370645.4_Silent_p.V64V			P63218	GBG5_HUMAN	guanine nucleotide binding protein (G protein), gamma 5	64					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)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|PDZ domain binding (GO:0030165)|signal transducer activity (GO:0004871)			lung(1)|skin(1)	2				all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)		AAAAGGAACAGACTTTCTGGG	0.388																																						ENST00000370641.3																			0				lung(1)|skin(1)	2						c.(190-192)gtC>gtG		guanine nucleotide binding protein (G protein), gamma 5							46	50	49					1																	84967543		2202	4299	6501	SO:0001819	synonymous_variant	2787				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr1:84967543G>C	AF038955	CCDS696.1	1p22	2014-05-14			ENSG00000174021	ENSG00000174021			4408	protein-coding gene	gene with protein product		600874				7606925	Standard	NM_005274		Approved		uc001djw.4	P63218	OTTHUMG00000009858	ENST00000370641.3:c.192C>G	1.37:g.84967543G>C			Somatic				GNG5_ENST00000370645.4_Silent_p.V64V|GNG5_ENST00000487806.1_5'UTR	p.V64V			WXS	Illumina GAIIx	Phase_I	P63218	GBG5_HUMAN		all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)	2	665	-			64					B2R5A0|P30670|Q5VX54|Q61015	Silent	SNP	ENST00000370641.3	37	c.192C>G	CCDS696.1																																																																																				0.388	GNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027240.1	NM_005274		6	49	0	0	0	1	0	6	49					C	84967543	G	C	84967543	2	2	37	1	0	0	0	0	0	0	0	1	6538	929	33	2		2	GNG5	1	84967543	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	5851453	84967543	164283078	13	3377										
HFM1	164045	broad.mit.edu	37	chr1	91779552	91779552	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gatttatgctaagatcttcaGatttaagagctcttttcaca	6	7	4	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:91779552G>C	ENST00000370425.3	-	29	3304	c.3206C>G	c.(3205-3207)tCt>tGt	p.S1069C	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.S748C|HFM1_ENST00000294696.5_Missense_Mutation_p.S301C	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1069	SEC63.				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)		AAGATCTTCAGATTTAAGAGC	0.274																																						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.(3205-3207)tCt>tGt		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							74	87	83					1																	91779552		2201	4294	6495	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91779552G>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.3206C>G	1.37:g.91779552G>C	ENSP00000359454:p.Ser1069Cys		Somatic				HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.S301C|HFM1_ENST00000370424.3_Missense_Mutation_p.S748C	p.S1069C	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)	29	3304	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1069			SEC63.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.3206C>G	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.486686|3.486686	0.63962|0.63962	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	.|T;T;T	.|0.61627	.|0.09;0.09;0.09	5.59|5.59	5.59|5.59	0.84812|0.84812	.|Sec63 domain (2);	.|0.147162	.|0.45867	.|D	.|0.000326	T|T	0.71074|0.71074	0.3297|0.3297	M|M	0.65975|0.65975	2.015|2.015	0.44966|0.44966	D|D	0.997984|0.997984	.|D;D;D	.|0.89917	.|0.999;0.999;1.0	.|D;D;D	.|0.77557	.|0.922;0.99;0.979	T|T	0.70673|0.70673	-0.4807|-0.4807	5|10	.|0.51188	.|T	.|0.08	.|.	19.6008|19.6008	0.95560|0.95560	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|748;280;1069	.|A6NGI5;B1B0B5;A2PYH4	.|.;.;HFM1_HUMAN	V|C	281|1069;301;748;753	.|ENSP00000359454:S1069C;ENSP00000294696:S301C;ENSP00000359453:S748C	.|ENSP00000294696:S301C	L|S	-|-	1|2	2|0	HFM1|HFM1	91552140|91552140	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.759000|0.759000	0.43091|0.43091	4.322000|4.322000	0.59215|0.59215	2.631000|2.631000	0.89168|0.89168	0.650000|0.650000	0.86243|0.86243	CTG|TCT		0.274	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		5	67	0	0	0	1	0	5	67					C	91779552	G	C	91779552	3	2	37	1	0	0	0	0	1	0	0	0	7092	942	33	2	1145	2	HFM1	1	91779552	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	6812009	91779552	157471069	14	3378										
GNAI3	2773	broad.mit.edu	37	chr1	110121874	110121874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctggcagtgctgaagaaggaGtcatgactccagaactagca	12	9	1	4			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:110121874G>A	ENST00000369851.4	+	4	462	c.352G>A	c.(352-354)Gtc>Atc	p.V118I		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	118					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TGAAGAAGGAGTCATGACTCC	0.443																																						ENST00000369851.4																			0				NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(352-354)Gtc>Atc		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3							156	143	147					1																	110121874		2203	4300	6503	SO:0001583	missense	2773				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr1:110121874G>A	M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.352G>A	1.37:g.110121874G>A	ENSP00000358867:p.Val118Ile		Somatic					p.V118I	NM_006496.3	NP_006487.1	WXS	Illumina GAIIx	Phase_I	P08754	GNAI3_HUMAN		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)	4	462	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	118					P17539|Q5TZX1	Missense_Mutation	SNP	ENST00000369851.4	37	c.352G>A	CCDS802.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784216	0.31593	.	.	ENSG00000065135	ENST00000369851	D	0.87729	-2.29	5.62	2.69	0.31865	G protein alpha subunit, helical insertion (2);	0.173421	0.50627	D	0.000112	T	0.53916	0.1826	N	0.11131	0.1	0.38283	D	0.942499	B	0.02656	0.0	B	0.01281	0.0	T	0.38436	-0.9661	10	0.20046	T	0.44	.	7.4802	0.27400	0.2069:0.1211:0.672:0.0	.	118	P08754	GNAI3_HUMAN	I	118	ENSP00000358867:V118I	ENSP00000358867:V118I	V	+	1	0	GNAI3	109923397	0.989000	0.36119	0.999000	0.59377	0.996000	0.88848	1.182000	0.32029	0.308000	0.22923	0.591000	0.81541	GTC		0.443	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	NM_006496		8	87	0	0	0	1	0	8	87					A	110121874	G	A	110121874	3	1	37	1	0	0	0	0	1	0	0	0	6514	1029	36	3	366	3	GNAI3	1	110121874	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	18342322	110121874	139128747	15	3379										
KCNA3	3738	broad.mit.edu	37	chr1	111216487	111216487	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gtggctttgctaggacaagcGaagaaccgcaccagcagttc	12	11	0	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:111216487G>A	ENST00000369769.2	-	1	1168	c.945C>T	c.(943-945)ttC>ttT	p.F315F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	315					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)	TAGGACAAGCGAAGAACCGCA	0.557																																						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.(943-945)ttC>ttT		potassium voltage-gated channel, shaker-related subfamily, member 3							87	86	86					1																	111216487		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216487G>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.945C>T	1.37:g.111216487G>A			Somatic					p.F315F	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	1168	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	315					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.945C>T	CCDS828.2																																																																																				0.557	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		24	95	0	0	0	1	0	24	95					A	111216487	G	A	111216487	2	1	37	1	0	0	0	0	0	0	0	1	8013	1049	37	1		1	KCNA3	1	111216487	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	1094613	111216487	138034134	16	3380										
SPAG17	200162	broad.mit.edu	37	chr1	118629493	118629493	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tgctatctcaggctatctgaCctttttctccctctctgaga	6	13	4	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:118629493C>A	ENST00000336338.5	-	11	1563		c.e11+1			NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17							cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGCTATCTGACCTTTTTCTCC	0.458																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.e11+1		sperm associated antigen 17							127	122	124					1																	118629493		2203	4300	6503	SO:0001630	splice_region_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118629493C>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1497+1G>T	1.37:g.118629493C>A			Somatic						NM_206996.2	NP_996879.1	WXS	Illumina GAIIx	Phase_I	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	11	1563	-	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)						Q8NAZ1|Q9NT21	Splice_Site	SNP	ENST00000336338.5	37		CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530812	0.64860	.	.	ENSG00000155761	ENST00000336338	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1168	0.86691	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPAG17	118431016	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.006000	0.63978	2.655000	0.90218	0.655000	0.94253	.		0.458	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	Intron	33	105	1	0	8.16721e-17	1	8.97155e-17	33	105					A	118629493	C	A	118629493	5	1	37	1	0	0	0	0	0	0	1	0	14994	521	18	5	5325	5	SPAG17	1	118629493	Splice_Site	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	7413006	118629493	130621128	17	3381										
JTB	10899	broad.mit.edu	37	chr1	153948312	153948312	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cagcactcaccttttgaactCatttctcttagatgagctgc	6	12	3	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:153948312C>T	ENST00000271843.4	-	4	709	c.274G>A	c.(274-276)Gag>Aag	p.E92K	JTB_ENST00000368589.1_Missense_Mutation_p.E63K|RP11-422P24.11_ENST00000608236.1_lincRNA|JTB_ENST00000471173.1_5'Flank|JTB_ENST00000356648.1_Missense_Mutation_p.E63K	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	92					apoptotic mitochondrial changes (GO:0008637)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|positive regulation of protein kinase activity (GO:0045860)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)	protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTTTTGAACTCATTTCTCTTA	0.463																																						ENST00000271843.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						c.(274-276)Gag>Aag		jumping translocation breakpoint							218	194	202					1																	153948312		2203	4300	6503	SO:0001583	missense	10899				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding	g.chr1:153948312C>T	AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543			6201	protein-coding gene	gene with protein product	"prostate androgen-regulated gene"	604671				10321732	Standard	NM_006694		Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.274G>A	1.37:g.153948312C>T	ENSP00000271843:p.Glu92Lys		Somatic				JTB_ENST00000356648.1_Missense_Mutation_p.E63K|JTB_ENST00000368589.1_Missense_Mutation_p.E63K	p.E92K	NM_006694.3	NP_006685.1	WXS	Illumina GAIIx	Phase_I	O76095	JTB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		4	709	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		92					O95442|Q6IB19|Q9P0Q4	Missense_Mutation	SNP	ENST00000271843.4	37	c.274G>A	CCDS1057.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852272	0.71719	.	.	ENSG00000143543	ENST00000271843;ENST00000356648;ENST00000368589;ENST00000428469	T	0.45668	0.89	5.3	5.3	0.74995	.	0.117157	0.56097	D	0.000032	T	0.46795	0.1411	L	0.56769	1.78	0.45502	D	0.99846	P	0.51147	0.942	P	0.57057	0.812	T	0.41698	-0.9494	10	0.56958	D	0.05	-13.9831	14.336	0.66589	0.0:1.0:0.0:0.0	.	92	O76095	JTB_HUMAN	K	92;63;63;63	ENSP00000271843:E92K	ENSP00000271843:E92K	E	-	1	0	JTB	152214936	1.000000	0.71417	0.990000	0.47175	0.965000	0.64279	5.142000	0.64820	2.749000	0.94314	0.650000	0.86243	GAG		0.463	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088996.1	NM_006694		6	135	0	0	0	1	0	6	135					T	153948312	C	T	153948312	3	4	37	1	0	0	0	0	1	0	0	0	7976	835	29	3	174	3	JTB	1	153948312	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	35318819	153948312	95302309	18	3382										
KIAA0907	22889	broad.mit.edu	37	chr1	155887352	155887352	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctctgtgaatcgtctcttctGtgcctggggctgacttggga	13	10	3	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:155887352G>C	ENST00000368321.3	-	11	1401	c.1378C>G	c.(1378-1380)Cag>Gag	p.Q460E	KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q460E|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	460							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)			CGTCTCTTCTGTGCCTGGGGC	0.537																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1378-1380)Cag>Gag		KIAA0907							93	102	99					1																	155887352		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155887352G>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.1378C>G	1.37:g.155887352G>C	ENSP00000357304:p.Gln460Glu		Somatic				KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q460E	p.Q460E			WXS	Illumina GAIIx	Phase_I	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1403	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		460					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1378C>G	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835616	0.71373	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.35605	1.3;1.3	5.87	5.87	0.94306	.	0.104224	0.64402	D	0.000002	T	0.44201	0.1282	L	0.32530	0.975	0.80722	D	1	P;P	0.52577	0.954;0.954	D;D	0.67900	0.954;0.932	T	0.24870	-1.0148	10	0.56958	D	0.05	-7.1983	20.1777	0.98189	0.0:0.0:1.0:0.0	.	460;460	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	E	460	ENSP00000357304:Q460E;ENSP00000357303:Q460E	ENSP00000357303:Q460E	Q	-	1	0	KIAA0907	154153976	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.358000	0.97109	2.941000	0.99782	0.655000	0.94253	CAG		0.537	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		18	158	0	0	0	1	0	18	158					C	155887352	G	C	155887352	3	2	37	1	0	0	0	0	1	0	0	0	8208	1386	48	5	482	5	KIAA0907	1	155887352	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	1939040	155887352	93363269	19	3383										
CCT3	7203	broad.mit.edu	37	chr1	156281931	156281931	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tattcatctccaattttcttGatttccaacaggcctgctcc	4	13	3	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:156281931G>C	ENST00000295688.3	-	11	1336	c.1056C>G	c.(1054-1056)atC>atG	p.I352M	CCT3_ENST00000368259.2_Missense_Mutation_p.I314M|CCT3_ENST00000472765.2_Missense_Mutation_p.I307M|CCT3_ENST00000368261.3_Missense_Mutation_p.I307M	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	352					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CAATTTTCTTGATTTCCAACA	0.517																																						ENST00000295688.3																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1054-1056)atC>atG		chaperonin containing TCP1, subunit 3 (gamma)							109	120	116					1																	156281931		2203	4300	6503	SO:0001583	missense	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156281931G>C	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"Heat Shock Proteins / Chaperonins"	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.1056C>G	1.37:g.156281931G>C	ENSP00000295688:p.Ile352Met		Somatic				CCT3_ENST00000368259.2_Missense_Mutation_p.I314M|CCT3_ENST00000368261.3_Missense_Mutation_p.I307M|CCT3_ENST00000472765.2_Missense_Mutation_p.I307M	p.I352M	NM_005998.4	NP_005989.3	WXS	Illumina GAIIx	Phase_I	P49368	TCPG_HUMAN			11	1336	-	Hepatocellular(266;0.158)		352					A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	37	c.1056C>G	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514545	0.44763	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.82	3.85	0.44370	.	0.122073	0.56097	D	0.000032	T	0.70307	0.3209	M	0.72479	2.2	0.39725	D	0.971522	B;P;P	0.40834	0.257;0.73;0.576	B;P;P	0.60609	0.096;0.877;0.836	T	0.72663	-0.4225	10	0.49607	T	0.09	-19.3421	9.1725	0.37091	0.0806:0.1477:0.7716:0.0	.	314;351;352	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	M	352;314;307;307	ENSP00000295688:I352M;ENSP00000357242:I314M;ENSP00000357244:I307M;ENSP00000431543:I307M	ENSP00000295688:I352M	I	-	3	3	CCT3	154548555	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.580000	0.23803	1.463000	0.47967	0.643000	0.83706	ATC		0.517	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		6	65	0	0	0	1	0	6	65					C	156281931	G	C	156281931	3	2	37	1	0	0	0	0	1	0	0	0	2956	1280	45	2	597	2	CCT3	1	156281931	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	394579	156281931	92968690	20	3384										
OR10K1	391109	broad.mit.edu	37	chr1	158435818	158435818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tgcctgtggcttcactgtctCcctggtcaccacctccctag	8	17	3	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:158435818C>T	ENST00000289451.2	+	1	547	c.467C>T	c.(466-468)tCc>tTc	p.S156F		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	156						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)					TTCACTGTCTCCCTGGTCACC	0.532																																						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.(466-468)tCc>tTc		olfactory receptor, family 10, subfamily K, member 1							205	190	195					1																	158435818		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435818C>T	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"GPCR / Class A : Olfactory receptors"	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.467C>T	1.37:g.158435818C>T	ENSP00000289451:p.Ser156Phe		Somatic					p.S156F	NM_001004473.1	NP_001004473.1	WXS	Illumina GAIIx	Phase_I	Q8NGX5	O10K1_HUMAN			1	547	+	all_hematologic(112;0.0378)		156					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.467C>T	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	c	7.737	0.700466	0.15106	.	.	ENSG00000173285	ENST00000289451	T	0.44881	0.91	4.5	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.589593	0.14171	N	0.336758	T	0.46946	0.1419	M	0.70903	2.155	0.09310	N	1	D	0.57899	0.981	D	0.63192	0.912	T	0.34675	-0.9819	10	0.66056	D	0.02	.	11.7973	0.52108	0.0:0.9121:0.0:0.0879	.	156	Q8NGX5	O10K1_HUMAN	F	156	ENSP00000289451:S156F	ENSP00000289451:S156F	S	+	2	0	OR10K1	156702442	0.000000	0.05858	0.004000	0.12327	0.009000	0.06853	0.105000	0.15333	1.108000	0.41662	-0.226000	0.12346	TCC		0.532	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			22	203	0	0	0	1	0	22	203					T	158435818	C	T	158435818	3	4	37	1	0	0	0	0	1	0	0	0	10922	855	30	3	469	3	OR10K1	1	158435818	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	2153887	158435818	90814803	21	3385										
OR10X1	128367	broad.mit.edu	37	chr1	158549080	158549080	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gtggttactgtctatacaagAcagcctaataactgccagca	8	10	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:158549080A>G	ENST00000368150.1	-	1	609	c.610T>C	c.(610-612)Tct>Cct	p.S204P		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	204						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)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TCTATACAAGACAGCCTAATA	0.433																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(610-612)Tct>Cct		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							86	86	86					1																	158549080		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549080A>G	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.610T>C	1.37:g.158549080A>G	ENSP00000357132:p.Ser204Pro		Somatic					p.S204P	NM_001004477.1	NP_001004477.1	WXS	Illumina GAIIx	Phase_I	Q8NGY0	O10X1_HUMAN			1	609	-	all_hematologic(112;0.0378)		204					Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.610T>C	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.607239	0.28623	.	.	ENSG00000186400	ENST00000368150	T	0.00301	8.21	4.8	-0.878	0.10617	GPCR, rhodopsin-like superfamily (1);	0.443674	0.19298	N	0.117720	T	0.00241	0.0007	M	0.91920	3.255	0.18873	N	0.999989	D	0.56746	0.977	P	0.57204	0.815	T	0.39663	-0.9603	10	0.87932	D	0	.	6.3048	0.21133	0.4844:0.2627:0.0:0.2529	.	204	Q8NGY0	O10X1_HUMAN	P	204	ENSP00000357132:S204P	ENSP00000357132:S204P	S	-	1	0	OR10X1	156815704	0.000000	0.05858	0.033000	0.17914	0.151000	0.21798	-0.430000	0.06973	-0.009000	0.14296	0.455000	0.32223	TCT		0.433	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		5	70	0	0	0	1	0	5	70					G	158549080	A	G	158549080	3	3	37	1	0	0	0	0	1	0	0	0	10931	275	10	4	365	4	OR10X1	1	158549080	Missense_Mutation	SNP	A	TCGA-N9-A4Q7-01A-11D-A28R-08	113262	158549080	90701541	22	3386										
PYHIN1	149628	broad.mit.edu	37	chr1	158909028	158909028	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tcagctccacccaacacttcCtcaactgaggtacactcttc	4	17	3	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:158909028C>T	ENST00000368140.1	+	4	815	c.570C>T	c.(568-570)tcC>tcT	p.S190S	PYHIN1_ENST00000392254.2_Silent_p.S190S|PYHIN1_ENST00000392252.3_Silent_p.S181S|PYHIN1_ENST00000368135.4_Silent_p.S190S|PYHIN1_ENST00000368138.3_Silent_p.S181S	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	190					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)					CCAACACTTCCTCAACTGAGG	0.502																																						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.(568-570)tcC>tcT		pyrin and HIN domain family, member 1							146	130	135					1																	158909028		2203	4300	6503	SO:0001819	synonymous_variant	149628				cell cycle	nuclear speck		g.chr1:158909028C>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.570C>T	1.37:g.158909028C>T			Somatic				PYHIN1_ENST00000392252.3_Silent_p.S181S|PYHIN1_ENST00000368138.3_Silent_p.S181S|PYHIN1_ENST00000368135.4_Silent_p.S190S|PYHIN1_ENST00000392254.2_Silent_p.S190S	p.S190S	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			4	815	+	all_hematologic(112;0.0378)		190					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Silent	SNP	ENST00000368140.1	37	c.570C>T	CCDS1178.1																																																																																				0.502	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		7	127	0	0	0	1	0	7	127					T	158909028	C	T	158909028	2	4	37	1	0	0	0	0	0	0	0	1	12880	668	24	3		3	PYHIN1	1	158909028	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	359948	158909028	90341593	23	3387										
IFI16	3428	broad.mit.edu	37	chr1	158984677	158984677	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ggcaaactaataaaaattttCgaagatataccaacgcttga	6	7	0	2	rs144369567	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:158984677C>T	ENST00000295809.7	+	2	462	c.207C>T	c.(205-207)ttC>ttT	p.F69F	IFI16_ENST00000340979.6_Silent_p.F69F|IFI16_ENST00000368131.4_Silent_p.F69F|IFI16_ENST00000368132.3_Silent_p.F69F|IFI16_ENST00000359709.3_Silent_p.F69F|IFI16_ENST00000430894.2_Silent_p.F73F|IFI16_ENST00000448393.2_Silent_p.F69F			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	69	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.|Lys-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TAAAAATTTTCGAAGATATAC	0.388													C|||	2	0.000399361	0.0015	0	5008	,	,		17800	0		0	False		,,,				2504	0					ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(205-207)ttC>ttT		interferon, gamma-inducible protein 16		C	,	7,4399		0,7,2196	70	75	73		207,207	-1.3	0	1	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	IFI16	NM_001206567.1,NM_005531.2	,	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	,	69/730,69/730	158984677	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158984677C>T	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.207C>T	1.37:g.158984677C>T			Somatic				IFI16_ENST00000359709.3_Silent_p.F69F|IFI16_ENST00000368131.4_Silent_p.F69F|IFI16_ENST00000368132.3_Silent_p.F69F|IFI16_ENST00000430894.2_Silent_p.F73F|IFI16_ENST00000340979.6_Silent_p.F69F|IFI16_ENST00000448393.2_Silent_p.F69F	p.F69F			WXS	Illumina GAIIx	Phase_I	Q16666	IF16_HUMAN			2	462	+	all_hematologic(112;0.0429)		69			DAPIN.|Lys-rich.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	ENST00000295809.7	37	c.207C>T																																																																																					0.388	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		7	93	0	0	0	1	0	7	93					T	158984677	C	T	158984677	2	4	37	1	0	0	0	0	0	0	0	1	7520	883	31	1		1	IFI16	1	158984677	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	75649	158984677	90265944	24	3388										
PAPPA2	60676	broad.mit.edu	37	chr1	176525515	176525515	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	attttggctgggtgggcactCtgttctgccaactctgagct	12	10	3	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:176525515C>G	ENST00000367662.3	+	2	1221	c.57C>G	c.(55-57)ctC>ctG	p.L19L	PAPPA2_ENST00000367661.3_Silent_p.L19L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	19					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						GGTGGGCACTCTGTTCTGCCA	0.507																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(55-57)ctC>ctG		pappalysin 2							102	104	103					1																	176525515		2020	4194	6214	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525515C>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.57C>G	1.37:g.176525515C>G			Somatic				PAPPA2_ENST00000367661.3_Silent_p.L19L	p.L19L	NM_020318.2	NP_064714.2	WXS	Illumina GAIIx	Phase_I	Q9BXP8	PAPP2_HUMAN			2	1221	+			19					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.57C>G	CCDS41438.1																																																																																				0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			8	161	0	0	0	1	0	8	161					G	176525515	C	G	176525515	2	3	37	1	0	0	0	0	0	0	0	1	11442	900	32	2		2	PAPPA2	1	176525515	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	17540838	176525515	72725106	25	3389										
ASTN1	460	broad.mit.edu	37	chr1	176845718	176845718	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ggggcatggggtcttcacgaTcacgtcgcttggcctggagc	16	11	3	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:176845718T>G	ENST00000367654.3	-	21	3653	c.3442A>C	c.(3442-3444)Atc>Ctc	p.I1148L	ASTN1_ENST00000424564.2_Missense_Mutation_p.I1140L|ASTN1_ENST00000367657.3_Missense_Mutation_p.I1140L|ASTN1_ENST00000361833.2_Missense_Mutation_p.I1140L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1148					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						GTCTTCACGATCACGTCGCTT	0.582																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3442-3444)Atc>Ctc		astrotactin 1							144	109	121					1																	176845718		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176845718T>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.3442A>C	1.37:g.176845718T>G	ENSP00000356626:p.Ile1148Leu		Somatic				ASTN1_ENST00000361833.2_Missense_Mutation_p.I1140L|ASTN1_ENST00000424564.2_Missense_Mutation_p.I1140L|ASTN1_ENST00000367657.3_Missense_Mutation_p.I1140L	p.I1148L			WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			21	3455	-			1148					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3442A>C		.	.	.	.	.	.	.	.	.	.	T	16.45	3.125353	0.56721	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.34	5.34	0.76211	.	0.050706	0.85682	D	0.000000	T	0.26738	0.0654	N	0.08118	0	0.35731	D	0.817949	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.25117	-1.0141	10	0.72032	D	0.01	-10.5697	14.9841	0.71332	0.0:0.0:0.0:1.0	.	1140;1140	O14525-2;B1AJS1	.;.	L	1140;1140;1148;1140;1140	ENSP00000356629:I1140L;ENSP00000354536:I1140L;ENSP00000356626:I1148L;ENSP00000395041:I1140L	ENSP00000354536:I1140L	I	-	1	0	ASTN1	175112341	1.000000	0.71417	0.993000	0.49108	0.618000	0.37518	5.966000	0.70395	2.005000	0.58758	0.533000	0.62120	ATC		0.582	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		7	62	0	0	0	1	0	7	62					G	176845718	T	G	176845718	3	3	37	1	0	0	0	0	1	0	0	0	1064	1435	50	4	482	4	ASTN1	1	176845718	Missense_Mutation	SNP	T	TCGA-N9-A4Q7-01A-11D-A28R-08	320203	176845718	72404903	26	3390										
ANGPTL1	9068	broad.mit.edu	37	chr1	178834847	178834847	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	taattttgaattgtccacctCtgcaatgtccagtgtccact	6	11	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:178834847C>G	ENST00000234816.2	-	3	512	c.65G>C	c.(64-66)aGa>aCa	p.R22T	RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.R22T|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	22					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						TTGTCCACCTCTGCAATGTCC	0.383																																						ENST00000234816.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						c.(64-66)aGa>aCa		angiopoietin-like 1							71	70	70					1																	178834847		2203	4299	6502	SO:0001583	missense	9068					extracellular space	receptor binding	g.chr1:178834847C>G	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.65G>C	1.37:g.178834847C>G	ENSP00000234816:p.Arg22Thr		Somatic				RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.R22T|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000324778.4_Intron	p.R22T	NM_004673.3	NP_004664.1	WXS	Illumina GAIIx	Phase_I	O95841	ANGL1_HUMAN			3	512	-			22					Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	c.65G>C	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278353	0.23307	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000415564;ENST00000444255	T;T	0.54866	0.55;0.55	5.63	3.69	0.42338	.	0.502812	0.25004	N	0.033884	T	0.18800	0.0451	N	0.01352	-0.895	0.20638	N	0.999873	B	0.02656	0.0	B	0.01281	0.0	T	0.18272	-1.0342	10	0.13108	T	0.6	.	5.7247	0.18006	0.0:0.5157:0.281:0.2032	.	22	O95841	ANGL1_HUMAN	T	22	ENSP00000234816:R22T;ENSP00000356601:R22T	ENSP00000234816:R22T	R	-	2	0	ANGPTL1	177101470	0.964000	0.33143	0.937000	0.37676	0.927000	0.56198	0.170000	0.16663	1.363000	0.46019	0.650000	0.86243	AGA		0.383	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		5	77	0	0	0	1	0	5	77					G	178834847	C	G	178834847	3	3	37	1	0	0	0	0	1	0	0	0	613	913	32	2	1426	2	ANGPTL1	1	178834847	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	1989129	178834847	70415774	27	3391										
SOAT1	6646	broad.mit.edu	37	chr1	179320591	179320591	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gcacgtcagcactgtcctctGaaaaatgtgagtcaccaacc	8	13	3	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:179320591G>A	ENST00000367619.3	+	15	1733	c.1590G>A	c.(1588-1590)ctG>ctA	p.L530L	SOAT1_ENST00000535686.1_Silent_p.L266L|SOAT1_ENST00000540564.1_Silent_p.L472L|SOAT1_ENST00000539888.1_Silent_p.L465L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	530					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	ACTGTCCTCTGAAAAATGTGA	0.438																																						ENST00000367619.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(1588-1590)ctG>ctA		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						165	155	158					1																	179320591		2203	4300	6503	SO:0001819	synonymous_variant	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179320591G>A	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1590G>A	1.37:g.179320591G>A			Somatic				SOAT1_ENST00000539888.1_Silent_p.L465L|SOAT1_ENST00000540564.1_Silent_p.L472L|SOAT1_ENST00000535686.1_Silent_p.L266L	p.L530L	NM_003101.5	NP_003092.4	WXS	Illumina GAIIx	Phase_I	P35610	SOAT1_HUMAN			15	1733	+			530					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Silent	SNP	ENST00000367619.3	37	c.1590G>A	CCDS1330.1																																																																																				0.438	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		13	126	0	0	0	1	0	13	126					A	179320591	G	A	179320591	2	1	37	1	0	0	0	0	0	0	0	1	14925	1277	45	3		3	SOAT1	1	179320591	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	485744	179320591	69930030	28	3392										
HMCN1	83872	broad.mit.edu	37	chr1	186008973	186008973	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	caagtctgacctggttgaaaGatgggagtcctgtttctagt	12	7	2	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:186008973G>C	ENST00000271588.4	+	39	6371	c.6142G>C	c.(6142-6144)Gat>Cat	p.D2048H	HMCN1_ENST00000367492.2_Missense_Mutation_p.D2048H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2048	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						CTGGTTGAAAGATGGGAGTCC	0.433																																						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.(6142-6144)Gat>Cat		hemicentin 1							151	142	145					1																	186008973		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186008973G>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.6142G>C	1.37:g.186008973G>C	ENSP00000271588:p.Asp2048His		Somatic				HMCN1_ENST00000367492.2_Missense_Mutation_p.D2048H	p.D2048H	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			39	6371	+			2048			Ig-like C2-type 18.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.6142G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659768	0.88154	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.75821	-0.97;-0.97	5.0	5.0	0.66597	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047553	0.85682	D	0.000000	D	0.89636	0.6772	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92064	0.5659	10	0.72032	D	0.01	.	18.2473	0.89991	0.0:0.0:1.0:0.0	.	2048	Q96RW7	HMCN1_HUMAN	H	2048	ENSP00000271588:D2048H;ENSP00000356462:D2048H	ENSP00000271588:D2048H	D	+	1	0	HMCN1	184275596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.520000	0.81821	2.466000	0.83321	0.650000	0.86243	GAT		0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		16	76	0	0	0	1	0	16	76					C	186008973	G	C	186008973	3	2	37	1	0	0	0	0	1	0	0	0	7229	942	33	2	6296	2	HMCN1	1	186008973	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	6688382	186008973	63241648	29	3393										
TROVE2	6738	broad.mit.edu	37	chr1	193045690	193045690	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttactaaggaatctaggaaaGatgactgctaattcagtact	8	6	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:193045690G>C	ENST00000367446.3	+	4	1071	c.861G>C	c.(859-861)aaG>aaC	p.K287N	TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000416058.2_Missense_Mutation_p.K12N|TROVE2_ENST00000367441.1_Missense_Mutation_p.K287N|TROVE2_ENST00000367445.3_Missense_Mutation_p.K287N|TROVE2_ENST00000400968.2_Missense_Mutation_p.K287N|TROVE2_ENST00000367443.1_Missense_Mutation_p.K287N|TROVE2_ENST00000367444.3_Missense_Mutation_p.K287N|TROVE2_ENST00000432079.1_Missense_Mutation_p.K12N	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	287	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						ATCTAGGAAAGATGACTGCTA	0.338																																						ENST00000432079.1																			0				biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						c.(34-36)aaG>aaC		TROVE domain family, member 2							113	108	110					1																	193045690		1821	4085	5906	SO:0001583	missense	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193045690G>C	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.861G>C	1.37:g.193045690G>C	ENSP00000356416:p.Lys287Asn		Somatic				TROVE2_ENST00000367444.3_Missense_Mutation_p.K287N|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367446.3_Missense_Mutation_p.K287N|TROVE2_ENST00000367441.1_Missense_Mutation_p.K287N|TROVE2_ENST00000367445.3_Missense_Mutation_p.K287N|TROVE2_ENST00000416058.2_Missense_Mutation_p.K12N|TROVE2_ENST00000367443.1_Missense_Mutation_p.K287N|TROVE2_ENST00000400968.2_Missense_Mutation_p.K287N	p.K12N			WXS	Illumina GAIIx	Phase_I	P10155	RO60_HUMAN			3	604	+			287					B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	c.36G>C	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698820	0.68501	.	.	ENSG00000116747	ENST00000400968;ENST00000416058;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441	T;T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79;2.79	5.38	1.45	0.22620	TROVE (2);	0.044811	0.85682	D	0.000000	T	0.22551	0.0544	M	0.69185	2.1	0.52099	D	0.999948	P;P;D;D	0.89917	0.919;0.919;0.999;1.0	P;P;D;D	0.83275	0.771;0.771;0.991;0.996	T	0.25676	-1.0125	10	0.07175	T	0.84	-25.0062	10.2277	0.43236	0.2682:0.0:0.7318:0.0	.	287;287;287;287	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	N	287;12;287;287;287;287;287	ENSP00000383752:K287N;ENSP00000411421:K12N;ENSP00000356416:K287N;ENSP00000356413:K287N;ENSP00000356415:K287N;ENSP00000356414:K287N;ENSP00000356411:K287N	ENSP00000356411:K287N	K	+	3	2	TROVE2	191312313	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	3.447000	0.52936	0.089000	0.17243	-0.261000	0.10672	AAG		0.338	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		8	67	0	0	0	1	0	8	67					C	193045690	G	C	193045690	3	2	37	1	0	0	0	0	1	0	0	0	16591	933	33	2	871	2	TROVE2	1	193045690	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	7036717	193045690	56204931	30	3394										
LHX9	56956	broad.mit.edu	37	chr1	197890533	197890533	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gtctaccacctgagctgcttCacctgctccacttgcaacaa	6	16	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:197890533C>G	ENST00000367387.4	+	3	902	c.477C>G	c.(475-477)ttC>ttG	p.F159L	LHX9_ENST00000367390.3_Missense_Mutation_p.F150L|LHX9_ENST00000337020.2_Missense_Mutation_p.F159L|LHX9_ENST00000367391.1_Missense_Mutation_p.F150L|LHX9_ENST00000561173.1_Missense_Mutation_p.F165L	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	159	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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						TGAGCTGCTTCACCTGCTCCA	0.597																																						ENST00000367390.3																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(448-450)ttC>ttG		LIM homeobox 9							70	68	69					1																	197890533		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.chr1:197890533C>G	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.477C>G	1.37:g.197890533C>G	ENSP00000356357:p.Phe159Leu		Somatic				LHX9_ENST00000561173.1_Missense_Mutation_p.F165L|LHX9_ENST00000367387.4_Missense_Mutation_p.F159L|LHX9_ENST00000367391.1_Missense_Mutation_p.F150L|LHX9_ENST00000337020.2_Missense_Mutation_p.F159L	p.F150L	NM_001014434.1	NP_001014434.1	WXS	Illumina GAIIx	Phase_I	Q9NQ69	LHX9_HUMAN			4	477	+			159			LIM zinc-binding 2.		Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.450C>G	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370563	0.95900	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	6.17	6.17	0.99709	Zinc finger, LIM-type (5);	0.046664	0.85682	D	0.000000	D	0.95671	0.8592	M	0.81614	2.55	0.80722	D	1	P;D;P	0.71674	0.873;0.998;0.917	P;D;P	0.67725	0.685;0.953;0.557	D	0.95510	0.8585	10	0.87932	D	0	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	159;150;150	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	L	150;150;159;159	ENSP00000356361:F150L;ENSP00000356360:F150L;ENSP00000337969:F159L;ENSP00000356357:F159L	ENSP00000337969:F159L	F	+	3	2	LHX9	196157156	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.772000	0.55325	2.941000	0.99782	0.655000	0.94253	TTC		0.597	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		4	94	0	0	0	1	0	4	94					G	197890533	C	G	197890533	3	3	37	1	0	0	0	0	1	0	0	0	8786	825	29	2	519	2	LHX9	1	197890533	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	4844843	197890533	51360088	31	3395										
CHI3L1	1116	broad.mit.edu	37	chr1	203148584	203148584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aacagagggctacgttgcagCgagtgcatccttgatggcat	13	9	0	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:203148584C>T	ENST00000255409.3	-	10	1266	c.1141G>A	c.(1141-1143)Gct>Act	p.A381T		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	381					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TACGTTGCAGCGAGTGCATCC	0.647																																						ENST00000255409.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						c.(1141-1143)Gct>Act		chitinase 3-like 1 (cartilage glycoprotein-39)							68	71	70					1																	203148584		2203	4300	6503	SO:0001583	missense	1116				chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding	g.chr1:203148584C>T	BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.1141G>A	1.37:g.203148584C>T	ENSP00000255409:p.Ala381Thr		Somatic					p.A381T	NM_001276.2	NP_001267.2	WXS	Illumina GAIIx	Phase_I	P36222	CH3L1_HUMAN			10	1266	-			381					B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	ENST00000255409.3	37	c.1141G>A	CCDS1435.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.24|12.24	1.878698|1.878698	0.33162|0.33162	.|.	.|.	ENSG00000133048|ENSG00000133048	ENST00000255409|ENST00000404436	T|.	0.07327|.	3.2|.	4.54|4.54	0.778|0.778	0.18543|0.18543	Glycoside hydrolase, subgroup, catalytic domain (1);|.	1.233230|.	0.05832|.	N|.	0.617722|.	T|T	0.22551|0.22551	0.0544|0.0544	N|N	0.25789|0.25789	0.76|0.76	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.01281|.	0.0|.	T|T	0.23833|0.23833	-1.0177|-1.0177	10|5	0.38643|.	T|.	0.18|.	-0.0738|-0.0738	3.7851|3.7851	0.08697|0.08697	0.1464:0.4754:0.2791:0.0991|0.1464:0.4754:0.2791:0.0991	.|.	381|.	P36222|.	CH3L1_HUMAN|.	T|H	381|149	ENSP00000255409:A381T|.	ENSP00000255409:A381T|.	A|R	-|-	1|2	0|0	CHI3L1|CHI3L1	201415207|201415207	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.099000|0.099000	0.18886|0.18886	-0.926000|-0.926000	0.03988|0.03988	0.349000|0.349000	0.23975|0.23975	0.491000|0.491000	0.48974|0.48974	GCT|CGC		0.647	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1	NM_001276		10	123	0	0	0	1	0	10	123					T	203148584	C	T	203148584	3	4	37	1	0	0	0	0	1	0	0	0	3342	768	27	1	14	1	CHI3L1	1	203148584	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	5258051	203148584	46102037	32	3396										
ATP2B4	493	broad.mit.edu	37	chr1	203693021	203693021	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tgttctagattttcatcgtgGaatttgggggtaaacccttc	10	7	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:203693021G>C	ENST00000357681.5	+	19	4160	c.3037G>C	c.(3037-3039)Gaa>Caa	p.E1013Q	ATP2B4_ENST00000367219.3_Missense_Mutation_p.E1001Q|ATP2B4_ENST00000367218.3_Missense_Mutation_p.E1013Q|ATP2B4_ENST00000341360.2_Missense_Mutation_p.E1013Q|ATP2B4_ENST00000391954.2_Intron	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1013					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)			TTTCATCGTGGAATTTGGGGG	0.532																																						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.(3037-3039)Gaa>Caa		ATPase, Ca++ transporting, plasma membrane 4							134	135	135					1																	203693021		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.chr1:203693021G>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.3037G>C	1.37:g.203693021G>C	ENSP00000350310:p.Glu1013Gln		Somatic				ATP2B4_ENST00000341360.2_Missense_Mutation_p.E1013Q|ATP2B4_ENST00000367218.3_Missense_Mutation_p.E1013Q|ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E1001Q	p.E1013Q	NM_001684.4	NP_001675.3	WXS	Illumina GAIIx	Phase_I	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		19	4160	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		1013					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.3037G>C	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.617049	0.28801	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000341360	D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79	5.19	5.19	0.71726	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.113463	0.39687	N	0.001297	D	0.92374	0.7580	N	0.11106	0.095	0.80722	D	1	D;B;P	0.58970	0.984;0.014;0.883	P;B;P	0.56474	0.799;0.018;0.575	D	0.89120	0.3502	10	0.02654	T	1	-14.1206	18.2983	0.90154	0.0:0.0:1.0:0.0	.	1013;1013;1013	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	Q	1013;1013;1001;1013	ENSP00000350310:E1013Q;ENSP00000356187:E1013Q;ENSP00000356188:E1001Q;ENSP00000340930:E1013Q	ENSP00000340930:E1013Q	E	+	1	0	ATP2B4	201959644	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.005000	0.70716	2.426000	0.82243	0.650000	0.86243	GAA		0.532	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		5	138	0	0	0	1	0	5	138					C	203693021	G	C	203693021	3	2	37	1	0	0	0	0	1	0	0	0	1142	1175	41	2	3107	2	ATP2B4	1	203693021	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	544437	203693021	45557600	33	3397										
YOD1	55432	broad.mit.edu	37	chr1	207222908	207222908	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttcaagactcctccttcgacGacatagtacacactagtaaa	5	12	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:207222908G>A	ENST00000315927.4	-	2	550	c.504C>T	c.(502-504)gtC>gtT	p.V168V	YOD1_ENST00000367084.1_Silent_p.V124V|PFKFB2_ENST00000411990.2_5'UTR|YOD1_ENST00000391927.1_Silent_p.V124V	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	168	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CTCCTTCGACGACATAGTACA	0.488																																						ENST00000367084.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11						c.(370-372)gtC>gtT		YOD1 deubiquitinase							76	70	72					1																	207222908		2203	4300	6503	SO:0001819	synonymous_variant	55432				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding	g.chr1:207222908G>A		CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"OTU domain containing"	25035	protein-coding gene	gene with protein product		612023	"YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)", "YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.504C>T	1.37:g.207222908G>A			Somatic				YOD1_ENST00000315927.4_Silent_p.V168V|PFKFB2_ENST00000411990.2_5'UTR|YOD1_ENST00000391927.1_Silent_p.V124V	p.V124V	NM_001276320.1	NP_001263249.1	WXS	Illumina GAIIx	Phase_I	Q5VVQ6	OTU1_HUMAN			4	576	-	Prostate(682;0.19)		168			UBX-like.		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Silent	SNP	ENST00000315927.4	37	c.372C>T	CCDS31002.1																																																																																				0.488	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		20	26	0	0	0	1	0	20	26					A	207222908	G	A	207222908	2	1	37	1	0	0	0	0	0	0	0	1	17503	1045	37	1		1	YOD1	1	207222908	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	3529887	207222908	42027713	34	3398										
LEFTY2	7044	broad.mit.edu	37	chr1	226125369	226125369	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tggcaggtgcccacacactcGtaagccaggaagcccggggg	15	13	0	0	rs536871035	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:226125369G>A	ENST00000366820.5	-	4	1221	c.873C>T	c.(871-873)taC>taT	p.Y291Y	LEFTY2_ENST00000474493.1_5'Flank|LEFTY2_ENST00000420304.2_Silent_p.Y257Y|RP4-559A3.6_ENST00000513672.1_RNA	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	291					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CCACACACTCGTAAGCCAGGA	0.662													G|||	5	0.000998403	8e-04	0	5008	,	,		14978	0.004		0	False		,,,				2504	0				Colon(172;116 2643 9098 43333)	ENST00000366820.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(871-873)taC>taT		left-right determination factor 2							18	21	20					1																	226125369		2202	4300	6502	SO:0001819	synonymous_variant	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226125369G>A	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"	601877	"endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.873C>T	1.37:g.226125369G>A			Somatic				LEFTY2_ENST00000420304.2_Silent_p.Y257Y	p.Y291Y	NM_003240.3	NP_003231.2	WXS	Illumina GAIIx	Phase_I	O00292	LFTY2_HUMAN			4	1221	-	Breast(184;0.197)		291					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Silent	SNP	ENST00000366820.5	37	c.873C>T	CCDS1549.1																																																																																				0.662	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		3	40	0	0	0	1	0	3	40					A	226125369	G	A	226125369	2	1	37	1	0	0	0	0	0	0	0	1	8725	1140	40	1		1	LEFTY2	1	226125369	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	18902461	226125369	23125252	35	3399										
C1orf55	163859	broad.mit.edu	37	chr1	226173095	226173095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	agagaagagtcttgctgcccGctcctgcagagtgcccccac	11	15	1	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:226173095G>A	ENST00000272091.7	-	7	1282	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	422								p.R422W(1)|p.R410W(1)									CTTGCTGCCCGCTCCTGCAGA	0.502																																						ENST00000272091.7																			2	Substitution - Missense(2)	p.R422W(1)|p.R410W(1)	lung(2)								c.(1264-1266)Cgg>Tgg		SDE2 telomere maintenance homolog (S. pombe)							97	97	97					1																	226173095		1919	4123	6042	SO:0001583	missense	163859							g.chr1:226173095G>A	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.1264C>T	1.37:g.226173095G>A	ENSP00000272091:p.Arg422Trp		Somatic				SDE2_ENST00000366817.1_Missense_Mutation_p.R327W	p.R422W	NM_152608.3	NP_689821.3	WXS	Illumina GAIIx	Phase_I					7	1282	-								A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	c.1264C>T	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972636	0.74246	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;D	0.86097	-0.98;-2.07	5.67	3.6	0.41247	.	0.000000	0.85682	D	0.000000	D	0.93766	0.8007	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95385	0.8476	10	0.87932	D	0	-20.5424	15.3003	0.73945	0.0:0.0:0.6812:0.3188	.	422	Q6IQ49	CA055_HUMAN	W	422;410;327	ENSP00000272091:R422W;ENSP00000355782:R327W	ENSP00000272091:R422W	R	-	1	2	C1orf55	224239718	1.000000	0.71417	0.994000	0.49952	0.944000	0.59088	3.321000	0.51999	1.390000	0.46547	0.591000	0.81541	CGG		0.502	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		7	84	0	0	0	1	0	7	84					A	226173095	G	A	226173095	3	1	37	1	0	0	0	0	1	0	0	0	2049	1086	38	1	95	1	C1orf55	1	226173095	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	47726	226173095	23077526	36	3400										
C1orf35	79169	broad.mit.edu	37	chr1	228288913	228288913	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ccccgcttcctcctcttacaGcagggggagttggagtcgga	13	13	1	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:228288913G>C	ENST00000272139.4	-	8	945	c.711C>G	c.(709-711)tgC>tgG	p.C237W	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	237							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				TCCTCTTACAGCAGGGGGAGT	0.642																																						ENST00000272139.4																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(709-711)tgC>tgG		chromosome 1 open reading frame 35							95	84	88					1																	228288913		2203	4300	6503	SO:0001583	missense	79169							g.chr1:228288913G>C	AY137773	CCDS1566.1	1q42.13	2012-06-25			ENSG00000143793	ENSG00000143793			19032	protein-coding gene	gene with protein product	"multiple myeloma tumor-associated protein 2"					12545221	Standard	NM_024319		Approved	MGC4174, MMTAG2	uc001hrx.3	Q9BU76	OTTHUMG00000037793	ENST00000272139.4:c.711C>G	1.37:g.228288913G>C	ENSP00000272139:p.Cys237Trp		Somatic				C1orf35_ENST00000472617.1_5'UTR	p.C237W	NM_024319.2	NP_077295.1	WXS	Illumina GAIIx	Phase_I	Q9BU76	MMTA2_HUMAN			8	945	-		Prostate(94;0.0488)	237					Q6P5Y0|Q6ZTZ6|Q6ZWA6|Q8IZH3	Missense_Mutation	SNP	ENST00000272139.4	37	c.711C>G	CCDS1566.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.316943	0.40996	.	.	ENSG00000143793	ENST00000272139	.	.	.	3.44	2.53	0.30540	.	0.294986	0.32120	N	0.006545	T	0.22898	0.0553	N	0.14661	0.345	0.28709	N	0.903652	D	0.54047	0.964	P	0.46685	0.524	T	0.05550	-1.0878	9	0.38643	T	0.18	-15.563	7.6035	0.28089	0.1201:0.0:0.8799:0.0	.	237	Q9BU76	MMTA2_HUMAN	W	237	.	ENSP00000272139:C237W	C	-	3	2	C1orf35	226355536	0.003000	0.15002	0.565000	0.28409	0.720000	0.41350	1.198000	0.32223	1.014000	0.39417	-0.663000	0.03849	TGC		0.642	C1orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092245.1	NM_024319		6	59	0	0	0	1	0	6	59					C	228288913	G	C	228288913	3	2	37	1	0	0	0	0	1	0	0	0	2040	963	34	5	84	5	C1orf35	1	228288913	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	2115818	228288913	20961708	37	3401										
PGBD5	79605	broad.mit.edu	37	chr1	230459297	230459297	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tacaggatgtaggcattgttGatggcgatgctgatggcgaa	15	5	0	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:230459297G>C	ENST00000525115.1	-	7	1265	c.1242C>G	c.(1240-1242)atC>atG	p.I414M	PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000391860.1_Missense_Mutation_p.I368M|PGBD5_ENST00000321327.2_Missense_Mutation_p.I513M			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	414						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGGCATTGTTGATGGCGATGC	0.517																																						ENST00000321327.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33						c.(1537-1539)atC>atG		piggyBac transposable element derived 5							157	145	149					1																	230459297		2203	4300	6503	SO:0001583	missense	79605					integral to membrane		g.chr1:230459297G>C	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.1242C>G	1.37:g.230459297G>C	ENSP00000431404:p.Ile414Met		Somatic				PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000525115.1_Missense_Mutation_p.I414M|PGBD5_ENST00000391860.1_Missense_Mutation_p.I368M	p.I513M			WXS	Illumina GAIIx	Phase_I	Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	9	1538	-	Breast(184;0.0397)	Prostate(94;0.167)	414					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37	c.1539C>G		.	.	.	.	.	.	.	.	.	.	G	13.54	2.268043	0.40095	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.19105	2.17;2.17;2.17	5.72	5.72	0.89469	.	0.560008	0.18119	N	0.151108	T	0.26159	0.0638	N	0.12182	0.205	0.50313	D	0.999863	P;D	0.62365	0.782;0.991	P;P	0.62740	0.678;0.906	T	0.03993	-1.0986	10	0.40728	T	0.16	-39.6768	13.8616	0.63564	0.0:0.0:0.7456:0.2544	.	414;104	Q8N414;B4DM72	PGBD5_HUMAN;.	M	368;513;414	ENSP00000375733:I368M;ENSP00000322530:I513M;ENSP00000431404:I414M	ENSP00000322530:I513M	I	-	3	3	PGBD5	228525920	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	3.646000	0.54396	2.708000	0.92522	0.650000	0.86243	ATC		0.517	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		15	111	0	0	0	1	0	15	111					C	230459297	G	C	230459297	3	2	37	1	0	0	0	0	1	0	0	0	11793	1280	45	2	129	2	PGBD5	1	230459297	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	2170384	230459297	18791324	38	3402										
DISC1	27185	broad.mit.edu	37	chr1	231935886	231935886	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gagaaattctgcagcaccctGaggaagaaagttaacgatat	10	7	1	3	rs201489476		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:231935886G>A	ENST00000602281.1	+	8	1775	c.1722G>A	c.(1720-1722)ctG>ctA	p.L574L	DISC1_ENST00000539444.1_Intron|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000439617.2_Silent_p.L574L|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366636.4_Silent_p.L574L|DISC1_ENST00000535983.1_Silent_p.L574L|DISC1_ENST00000366633.3_Silent_p.L574L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Intron	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	574	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCAGCACCCTGAGGAAGAAAG	0.448																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1720-1722)ctG>ctA		disrupted in schizophrenia 1							117	109	112					1																	231935886		2199	4294	6493	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.chr1:231935886G>A	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.1722G>A	1.37:g.231935886G>A			Somatic				TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000602281.1_Silent_p.L574L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Silent_p.L574L|DISC1_ENST00000366636.4_Silent_p.L574L|DISC1_ENST00000535983.1_Silent_p.L574L|DISC1_ENST00000539444.1_Intron|DISC1_ENST00000537876.1_Intron	p.L574L	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			8	1775	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	574			Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Silent	SNP	ENST00000602281.1	37	c.1722G>A	CCDS59205.1																																																																																				0.448	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		4	51	0	0	0	1	0	4	51					A	231935886	G	A	231935886	2	1	37	1	0	0	0	0	0	0	0	1	4540	1277	45	3		3	DISC1	1	231935886	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	1476589	231935886	17314735	39	3403										
OR2T3	343173	broad.mit.edu	37	chr1	248637188	248637188	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttttgccagtctaggaaaatCctgagttttttctgtgagac	9	7	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:248637188C>T	ENST00000359594.2	+	1	562	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	179						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(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)			CTAGGAAAATCCTGAGTTTTT	0.522																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(535-537)atC>atT		olfactory receptor, family 2, subfamily T, member 3							57	52	53					1																	248637188		2167	4276	6443	SO:0001819	synonymous_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637188C>T		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.537C>T	1.37:g.248637188C>T			Somatic					p.I179I	NM_001005495.1	NP_001005495.1	WXS	Illumina GAIIx	Phase_I	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	562	+	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)		179					B2RNJ1	Silent	SNP	ENST00000359594.2	37	c.537C>T	CCDS31117.1																																																																																				0.522	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		4	131	0	0	0	1	0	4	131					T	248637188	C	T	248637188	2	4	37	1	0	0	0	0	0	0	0	1	11032	845	30	3		3	OR2T3	1	248637188	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	16701302	248637188	613433	40	3404										
OR2T34	127068	broad.mit.edu	37	chr1	248737522	248737522	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gtctcacagaaaaaactcagGattttcctagactggcaaaa	7	9	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:248737522G>A	ENST00000328782.2	-	1	558	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAAACTCAGGATTTTCCTAG	0.522																																						ENST00000328782.2																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43						c.(535-537)atC>atT		olfactory receptor, family 2, subfamily T, member 34							56	70	66					1																	248737522		2158	4297	6455	SO:0001819	synonymous_variant	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737522G>A	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"GPCR / Class A : Olfactory receptors"	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.537C>T	1.37:g.248737522G>A			Somatic					p.I179I	NM_001001821.1	NP_001001821.1	WXS	Illumina GAIIx	Phase_I	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	558	-	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)		179					B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	ENST00000328782.2	37	c.537C>T	CCDS31120.1																																																																																				0.522	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		20	43	0	0	0	1	0	20	43					A	248737522	G	A	248737522	2	1	37	1	0	0	0	0	0	0	0	1	11034	1164	41	3		3	OR2T34	1	248737522	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	100334	248737522	513099	41	3405										
WDR35	57539	broad.mit.edu	37	chr2	20114033	20114033	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gtcttcatagtctttcaggtGaagagctaagaaaaacaggg	11	6	4	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:20114033G>A	ENST00000345530.3	-	27	3275	c.3160C>T	c.(3160-3162)Cac>Tac	p.H1054Y	WDR35_ENST00000281405.4_Missense_Mutation_p.H1043Y|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1054					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)					TCTTTCAGGTGAAGAGCTAAG	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.(3160-3162)Cac>Tac		WD repeat domain 35							62	65	64					2																	20114033		2202	4300	6502	SO:0001583	missense	57539							g.chr2:20114033G>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.3160C>T	2.37:g.20114033G>A	ENSP00000314444:p.His1054Tyr		Somatic				WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Missense_Mutation_p.H1043Y	p.H1054Y	NM_001006657.1	NP_001006658.1	WXS	Illumina GAIIx	Phase_I	Q9P2L0	WDR35_HUMAN			27	3275	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1054					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.3160C>T	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335198	0.81801	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.64260	-0.09;-0.09	5.53	5.53	0.82687	.	0.044001	0.85682	D	0.000000	T	0.77745	0.4176	M	0.79805	2.47	0.80722	D	1	D;P	0.89917	1.0;0.885	D;P	0.91635	0.999;0.603	T	0.73000	-0.4120	10	0.05620	T	0.96	-5.7499	18.8135	0.92068	0.0:0.0:1.0:0.0	.	1043;1054	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	Y	1054;1043	ENSP00000314444:H1054Y;ENSP00000281405:H1043Y	ENSP00000281405:H1043Y	H	-	1	0	WDR35	19977514	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.420000	0.97426	2.763000	0.94921	0.655000	0.94253	CAC		0.398	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		8	61	0	0	0	1	0	8	61					A	20114033	G	A	20114033	3	1	37	1	0	0	0	0	1	0	0	0	17304	1290	45	3	393	3	WDR35	2	20114033	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08		20114033	223085340	42	3406										
FKBP1B	2281	broad.mit.edu	37	chr2	24285898	24285898	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tttaaatcaagctgggtcctCtttctcctctccccatctgc	5	15	5	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:24285898C>G	ENST00000380986.4	+	4	334				FKBP1B_ENST00000380991.4_Missense_Mutation_p.L70V|FKBP1B_ENST00000452109.1_Intron	NM_004116.3|NM_054033.2	NP_004107.1|NP_473374.1	P68106	FKB1B_HUMAN	FK506 binding protein 1B, 12.6 kDa						'de novo' protein folding (GO:0006458)|calcium ion transmembrane transport (GO:0070588)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|chaperone-mediated protein folding (GO:0061077)|cytosolic calcium ion homeostasis (GO:0051480)|insulin secretion (GO:0030073)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neuronal action potential propagation (GO:0019227)|positive regulation of axon regeneration (GO:0048680)|positive regulation of sequestering of calcium ion (GO:0051284)|protein maturation by protein folding (GO:0022417)|protein peptidyl-prolyl isomerization (GO:0000413)|protein refolding (GO:0042026)|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 ryanodine-sensitive calcium-release channel activity (GO:0060314)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to redox state (GO:0051775)|response to vitamin E (GO:0033197)|smooth muscle contraction (GO:0006939)|T cell proliferation (GO:0042098)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium channel inhibitor activity (GO:0019855)|cyclic nucleotide binding (GO:0030551)|FK506 binding (GO:0005528)|ion channel binding (GO:0044325)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|receptor binding (GO:0005102)			lung(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGGTCCTCTTTCTCCTCT	0.488																																						ENST00000380991.4																			0				lung(2)	2						c.(208-210)Ctt>Gtt		FK506 binding protein 1B, 12.6 kDa							91	71	78					2																	24285898		2203	4300	6503	SO:0001627	intron_variant	2281				'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state	calcium channel complex|sarcoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding	g.chr2:24285898C>G	D38037	CCDS1706.1, CCDS33153.1	2p23.3	2013-03-20	2002-08-29		ENSG00000119782	ENSG00000119782			3712	protein-coding gene	gene with protein product	"calstabin 2"	600620	"FK506-binding protein 1B (12.6 kD)"	FKBP1L		7513996	Standard	NM_004116		Approved	OTK4, FKBP12.6, PPIase, FKBP9	uc002rer.3	P68106	OTTHUMG00000151889	ENST00000380986.4:c.199-36C>G	2.37:g.24285898C>G			Somatic				FKBP1B_ENST00000452109.1_Intron|FKBP1B_ENST00000380986.4_Intron	p.L70V			WXS	Illumina GAIIx	Phase_I	P68106	FKB1B_HUMAN			4	357	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		0			PPIase FKBP-type.		Q13664|Q16645|Q53TM2|Q9BQ40	Missense_Mutation	SNP	ENST00000380986.4	37	c.208C>G	CCDS1706.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386137	0.25031	.	.	ENSG00000119782	ENST00000380991	T	0.41400	1.0	5.29	4.4	0.53042	.	.	.	.	.	T	0.30572	0.0769	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.01281	0.0	T	0.09314	-1.0680	8	0.41790	T	0.15	.	9.186	0.37172	0.0:0.9015:0.0:0.0985	.	70	P68106-2	.	V	70	ENSP00000370379:L70V	ENSP00000370379:L70V	L	+	1	0	FKBP1B	24139402	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.048000	0.30379	2.631000	0.89168	0.563000	0.77884	CTT		0.488	FKBP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207622.1	NM_004116		4	24	0	0	0	1	0	4	24					G	24285898	C	G	24285898	1	3	37	0	1	0	0	0	0	0	0	0	5915	913	32	2		2	FKBP1B	2	24285898	Intron	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	4171865	24285898	218913475	43	3407										
ITSN2	50618	broad.mit.edu	37	chr2	24484527	24484527	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttcacttgatggcattttttCtacataattgcatggaaacc	6	8	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:24484527C>G	ENST00000355123.4	-	21	2883	c.2440G>C	c.(2440-2442)Gaa>Caa	p.E814Q	ITSN2_ENST00000361999.3_Missense_Mutation_p.E787Q|ITSN2_ENST00000406921.3_Missense_Mutation_p.E814Q	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	814	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)					GGCATTTTTTCTACATAATTG	0.378																																						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.(2440-2442)Gaa>Caa		intersectin 2							110	112	111					2																	24484527		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.chr2:24484527C>G	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.2440G>C	2.37:g.24484527C>G	ENSP00000347244:p.Glu814Gln		Somatic				ITSN2_ENST00000406921.3_Missense_Mutation_p.E814Q|ITSN2_ENST00000361999.3_Missense_Mutation_p.E787Q	p.E814Q	NM_006277.2	NP_006268.2	WXS	Illumina GAIIx	Phase_I	Q9NZM3	ITSN2_HUMAN			21	2883	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		814			SH3 1.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.2440G>C	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764381	0.69878	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	4.96	4.96	0.65561	Src homology-3 domain (3);	0.000000	0.38164	U	0.001800	T	0.57621	0.2066	L	0.56280	1.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.60737	-0.7204	10	0.87932	D	0	.	18.5759	0.91154	0.0:1.0:0.0:0.0	.	814;787;814	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	Q	787;814;787;814	ENSP00000354561:E787Q;ENSP00000347244:E814Q;ENSP00000370250:E787Q;ENSP00000384499:E814Q	ENSP00000347244:E814Q	E	-	1	0	ITSN2	24338031	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.346000	0.79347	2.494000	0.84150	0.561000	0.74099	GAA		0.378	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		6	37	0	0	0	1	0	6	37					G	24484527	C	G	24484527	3	3	37	1	0	0	0	0	1	0	0	0	7936	922	32	2	2784	2	ITSN2	2	24484527	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	198629	24484527	218714846	44	3408										
OTOF	9381	broad.mit.edu	37	chr2	26725246	26725246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gatccagtccatctcctagcCgaatggccagatggtcaagg	11	12	2	1	rs111033535		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:26725246C>T	ENST00000272371.2	-	7	758	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	OTOF_ENST00000403946.3_Missense_Mutation_p.R211Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	211					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)					ATCTCCTAGCCGAATGGCCAG	0.557																																					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.(631-633)cGg>cAg		otoferlin							100	81	87					2																	26725246		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.chr2:26725246C>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.632G>A	2.37:g.26725246C>T	ENSP00000272371:p.Arg211Gln		Somatic				OTOF_ENST00000403946.3_Missense_Mutation_p.R211Q	p.R211Q	NM_194248.2	NP_919224.1	WXS	Illumina GAIIx	Phase_I	Q9HC10	OTOF_HUMAN			7	758	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		211					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.632G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	6.224	0.409548	0.11812	.	.	ENSG00000115155	ENST00000272371;ENST00000403946;ENST00000380499	T;T	0.80033	-1.33;-1.33	5.52	-0.0703	0.13748	.	0.238071	0.40908	N	0.000999	T	0.71500	0.3347	L	0.57536	1.79	0.30573	N	0.763343	B	0.16166	0.016	B	0.08055	0.003	T	0.60652	-0.7221	10	0.13853	T	0.58	-11.8062	11.3689	0.49687	0.0:0.6269:0.0:0.3731	.	211	Q9HC10	OTOF_HUMAN	Q	211;211;95	ENSP00000272371:R211Q;ENSP00000385255:R211Q	ENSP00000272371:R211Q	R	-	2	0	OTOF	26578750	0.987000	0.35691	0.752000	0.31206	0.307000	0.27823	2.080000	0.41586	0.035000	0.15519	-0.140000	0.14226	CGG		0.557	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			4	21	0	0	0	1	0	4	21					T	26725246	C	T	26725246	3	4	37	1	0	0	0	0	1	0	0	0	11312	652	23	1	5850	1	OTOF	2	26725246	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	2240719	26725246	216474127	45	3409										
GTF3C2	2976	broad.mit.edu	37	chr2	27566241	27566241	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cctctgatcaggagaatcctCaaatccaggcaaaggggtag	11	10	3	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:27566241C>G	ENST00000359541.2	-	2	610	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	AC109828.1_ENST00000589853.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.E61Q|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000588707.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	61					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)					GGAGAATCCTCAAATCCAGGC	0.488																																						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.(181-183)Gag>Cag		general transcription factor IIIC, polypeptide 2, beta 110kDa							155	157	156					2																	27566241		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27566241C>G	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.181G>C	2.37:g.27566241C>G	ENSP00000352536:p.Glu61Gln		Somatic				GTF3C2_ENST00000264720.3_Missense_Mutation_p.E61Q	p.E61Q			WXS	Illumina GAIIx	Phase_I	Q8WUA4	TF3C2_HUMAN			2	610	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		61					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.181G>C	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362644	0.61403	.	.	ENSG00000115207	ENST00000359541;ENST00000264720;ENST00000457748;ENST00000423998	T;T	0.80123	-1.34;-1.34	5.24	5.24	0.73138	.	0.311235	0.28420	N	0.015411	T	0.75443	0.3850	N	0.24115	0.695	0.31799	N	0.628664	P;P;P	0.46656	0.882;0.631;0.747	P;B;P	0.47891	0.56;0.287;0.56	T	0.79945	-0.1589	10	0.56958	D	0.05	-11.665	14.1867	0.65609	0.0:1.0:0.0:0.0	.	61;61;61	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	Q	61	ENSP00000352536:E61Q;ENSP00000264720:E61Q	ENSP00000264720:E61Q	E	-	1	0	GTF3C2	27419745	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.298000	0.51818	2.715000	0.92844	0.563000	0.77884	GAG		0.488	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			22	189	0	0	0	1	0	22	189					G	27566241	C	G	27566241	3	3	37	1	0	0	0	0	1	0	0	0	6882	835	29	2	2626	2	GTF3C2	2	27566241	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	840995	27566241	215633132	46	3410										
ZNF513	130557	broad.mit.edu	37	chr2	27600930	27600930	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ggccaggtggttgggatagtGagtggcaaaggggcagaggc	21	5	0	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:27600930G>C	ENST00000323703.6	-	4	1306	c.1108C>G	c.(1108-1110)Cac>Gac	p.H370D	ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Missense_Mutation_p.H308D	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	370					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGGATAGTGAGTGGCAAAG	0.632																																						ENST00000323703.6																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17						c.(1108-1110)Cac>Gac		zinc finger protein 513							94	111	105					2																	27600930		2203	4300	6503	SO:0001583	missense	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27600930G>C	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"Zinc fingers, C2H2-type"	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1108C>G	2.37:g.27600930G>C	ENSP00000318373:p.His370Asp		Somatic				ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Missense_Mutation_p.H308D	p.H370D	NM_144631.5	NP_653232.3	WXS	Illumina GAIIx	Phase_I	Q8N8E2	ZN513_HUMAN			4	1306	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		370					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	c.1108C>G	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976461	0.53720	.	.	ENSG00000163795	ENST00000323703;ENST00000407879	T;T	0.06933	3.24;3.24	5.29	5.29	0.74685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000044	T	0.20210	0.0486	L	0.34521	1.04	0.49299	D	0.999774	D	0.71674	0.998	D	0.76071	0.987	T	0.00415	-1.1753	10	0.46703	T	0.11	-10.8865	17.6615	0.88193	0.0:0.0:1.0:0.0	.	370	Q8N8E2	ZN513_HUMAN	D	370;308	ENSP00000318373:H370D;ENSP00000384874:H308D	ENSP00000318373:H370D	H	-	1	0	ZNF513	27454434	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.560000	0.82277	2.752000	0.94435	0.655000	0.94253	CAC		0.632	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		18	150	0	0	0	1	0	18	150					C	27600930	G	C	27600930	3	2	37	1	0	0	0	0	1	0	0	0	17973	1290	45	2	521	2	ZNF513	2	27600930	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	34689	27600930	215598443	47	3411										
C2orf16	84226	broad.mit.edu	37	chr2	27803866	27803866	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctcagtggggcagcctctgaGaactgttcaaaaggacagta	12	9	3	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:27803866G>C	ENST00000408964.2	+	1	4478	c.4427G>C	c.(4426-4428)aGa>aCa	p.R1476T	ZNF512_ENST00000416005.2_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1476						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)					CAGCCTCTGAGAACTGTTCAA	0.473																																						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.(4426-4428)aGa>aCa		chromosome 2 open reading frame 16							101	101	101					2																	27803866		1840	4103	5943	SO:0001583	missense	84226							g.chr2:27803866G>C	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.4427G>C	2.37:g.27803866G>C	ENSP00000386190:p.Arg1476Thr		Somatic					p.R1476T	NM_032266.3	NP_115642.3	WXS	Illumina GAIIx	Phase_I	Q68DN1	CB016_HUMAN			1	4478	+	Acute lymphoblastic leukemia(172;0.155)		1476					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.4427G>C	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	9.954	1.221057	0.22457	.	.	ENSG00000221843	ENST00000408964	T	0.47528	0.84	3.55	1.62	0.23740	.	.	.	.	.	T	0.21631	0.0521	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24905	-1.0147	9	0.12103	T	0.63	.	5.1348	0.14928	0.3003:0.0:0.6997:0.0	.	1476	Q68DN1	CB016_HUMAN	T	1476	ENSP00000386190:R1476T	ENSP00000386190:R1476T	R	+	2	0	C2orf16	27657370	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.105000	0.15333	0.431000	0.26258	0.462000	0.41574	AGA		0.473	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		18	139	0	0	0	1	0	18	139					C	27803866	G	C	27803866	3	2	37	1	0	0	0	0	1	0	0	0	2159	942	33	2	4429	2	C2orf16	2	27803866	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	202936	27803866	215395507	48	3412										
HEATR5B	54497	broad.mit.edu	37	chr2	37291994	37291994	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ggtgaggtcttcaagttgttGagccgttctgcacacctgtc	12	10	3	2	rs142538657		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:37291994G>C	ENST00000233099.5	-	10	1568	c.1473C>G	c.(1471-1473)ctC>ctG	p.L491L	HEATR5B_ENST00000354531.2_Silent_p.L491L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	491						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.L491L(1)		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)				TCAAGTTGTTGAGCCGTTCTG	0.507																																						ENST00000233099.5																			1	Substitution - coding silent(1)	p.L491L(1)	skin(1)	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.(1471-1473)ctC>ctG		HEAT repeat containing 5B							132	111	118					2																	37291994		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37291994G>C	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.1473C>G	2.37:g.37291994G>C			Somatic				HEATR5B_ENST00000354531.2_Silent_p.L491L	p.L491L	NM_019024.1	NP_061897.1	WXS	Illumina GAIIx	Phase_I	Q9P2D3	HTR5B_HUMAN			10	1568	-		all_hematologic(82;0.21)	491					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.1473C>G	CCDS33181.1																																																																																				0.507	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		22	44	0	0	0	1	0	22	44					C	37291994	G	C	37291994	2	2	37	1	0	0	0	0	0	0	0	1	7041	1277	45	2		2	HEATR5B	2	37291994	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	9488128	37291994	205907379	49	3413										
PRKCE	5581	broad.mit.edu	37	chr2	46203651	46203651	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ccgtcaggcgcagggtccatCaggtcaacggccacaagttc	12	14	3	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:46203651C>G	ENST00000306156.3	+	3	823	c.496C>G	c.(496-498)Cag>Gag	p.Q166E		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	166					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	CAGGGTCCATCAGGTCAACGG	0.587																																						ENST00000306156.3																		MBOAT2/PRKCE(2)	0				breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34						c.(496-498)Cag>Gag		protein kinase C, epsilon							66	75	72					2																	46203651		2186	4288	6474	SO:0001583	missense	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46203651C>G		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.496C>G	2.37:g.46203651C>G	ENSP00000306124:p.Gln166Glu		Somatic					p.Q166E	NM_005400.2	NP_005391.1	WXS	Illumina GAIIx	Phase_I	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		3	823	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	166					B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	c.496C>G	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820540	0.32145	.	.	ENSG00000171132	ENST00000306156	D	0.83673	-1.75	4.47	3.59	0.41128	.	0.135233	0.53938	D	0.000053	T	0.73666	0.3616	L	0.48362	1.52	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.64618	-0.6365	10	0.02654	T	1	.	12.8093	0.57631	0.0:0.9202:0.0:0.0798	.	166	Q02156	KPCE_HUMAN	E	166	ENSP00000306124:Q166E	ENSP00000306124:Q166E	Q	+	1	0	PRKCE	46057155	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.755000	0.68750	1.232000	0.43678	0.563000	0.77884	CAG		0.587	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			29	90	0	0	0	1	0	29	90					G	46203651	C	G	46203651	3	3	37	1	0	0	0	0	1	0	0	0	12523	827	29	2	506	2	PRKCE	2	46203651	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	8911657	46203651	196995722	50	3414										
LHCGR	3973	broad.mit.edu	37	chr2	48915596	48915596	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cagaaagttcacttgcgaatAcagtgaaaaagccagcagtg	10	8	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:48915596A>G	ENST00000294954.7	-	11	1361	c.1340T>C	c.(1339-1341)gTa>gCa	p.V447A	LHCGR_ENST00000401907.1_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.V385A|LHCGR_ENST00000405626.1_Missense_Mutation_p.V420A|LHCGR_ENST00000403273.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	447					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)			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)	ACTTGCGAATACAGTGAAAAA	0.488																																						ENST00000294954.7																			0				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.(1339-1341)gTa>gCa		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						106	87	93					2																	48915596		2203	4300	6503	SO:0001583	missense	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915596A>G		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.1340T>C	2.37:g.48915596A>G	ENSP00000294954:p.Val447Ala		Somatic				LHCGR_ENST00000344775.3_Missense_Mutation_p.V385A|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.V420A|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron	p.V447A	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	1361	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	447					Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1340T>C	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172721	0.78452	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	D;D;D	0.90788	-2.73;-2.73;-2.73	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96112	0.8733	M	0.89968	3.075	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.96611	0.9452	9	.	.	.	.	15.5325	0.75974	1.0:0.0:0.0:0.0	.	447	P22888	LSHR_HUMAN	A	385;447;420	ENSP00000344301:V385A;ENSP00000294954:V447A;ENSP00000386033:V420A	.	V	-	2	0	LHCGR	48769100	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	9.335000	0.96500	2.252000	0.74401	0.533000	0.62120	GTA		0.488	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		11	75	0	0	0	1	0	11	75					G	48915596	A	G	48915596	3	3	37	1	0	0	0	0	1	0	0	0	8771	391	14	4	763	4	LHCGR	2	48915596	Missense_Mutation	SNP	A	TCGA-N9-A4Q7-01A-11D-A28R-08	2711945	48915596	194283777	51	3415										
EHBP1	23301	broad.mit.edu	37	chr2	63053311	63053311	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	atgccaactcagactgatgtCaagttaaaattcaagccatt	6	9	3	2	rs529052334		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:63053311C>A	ENST00000263991.5	+	6	884	c.402C>A	c.(400-402)gtC>gtA	p.V134V	EHBP1_ENST00000431489.1_Silent_p.V134V|EHBP1_ENST00000405289.1_Silent_p.V134V|EHBP1_ENST00000405015.3_Silent_p.V134V|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000354487.3_Silent_p.V134V	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	134						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGACTGATGTCAAGTTAAAAT	0.398																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(400-402)gtC>gtA		EH domain binding protein 1							97	97	97					2																	63053311		2203	4300	6503	SO:0001819	synonymous_variant	23301					cytoplasm|membrane		g.chr2:63053311C>A	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.402C>A	2.37:g.63053311C>A			Somatic				EHBP1_ENST00000405289.1_Silent_p.V134V|EHBP1_ENST00000354487.3_Silent_p.V134V|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000405015.3_Silent_p.V134V|EHBP1_ENST00000431489.1_Silent_p.V134V	p.V134V	NM_015252.3	NP_056067.2	WXS	Illumina GAIIx	Phase_I	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		6	884	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		134					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Silent	SNP	ENST00000263991.5	37	c.402C>A	CCDS1872.1																																																																																				0.398	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		7	41	1	0	0.00198382	1	0.0020305	7	41					A	63053311	C	A	63053311	2	1	37	1	0	0	0	0	0	0	0	1	4977	813	29	2		2	EHBP1	2	63053311	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	14137715	63053311	180146062	52	3416										
GPAT2	150763	broad.mit.edu	37	chr2	96690526	96690526	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cattgcaccccctaccttctGatgcttgaagagcagcagcg	9	14	1	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:96690526G>A	ENST00000434632.1	-	15	1882	c.1423C>T	c.(1423-1425)Cag>Tag	p.Q475*	GPAT2_ENST00000377137.3_Nonsense_Mutation_p.Q475*|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Nonsense_Mutation_p.Q475*|GPAT2_ENST00000453542.1_Nonsense_Mutation_p.Q404*			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	475					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						CCTACCTTCTGATGCTTGAAG	0.652																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1423-1425)Cag>Tag		glycerol-3-phosphate acyltransferase 2, mitochondrial							120	129	126					2																	96690526		2042	4171	6213	SO:0001587	stop_gained	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.chr2:96690526G>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.1423C>T	2.37:g.96690526G>A	ENSP00000389395:p.Gln475*		Somatic				GPAT2_ENST00000359548.4_Nonsense_Mutation_p.Q475*|GPAT2_ENST00000377137.3_Nonsense_Mutation_p.Q475*|GPAT2_ENST00000453542.1_Nonsense_Mutation_p.Q404*	p.Q475*			WXS	Illumina GAIIx	Phase_I	Q6NUI2	GPAT2_HUMAN			15	1882	-			475					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Nonsense_Mutation	SNP	ENST00000434632.1	37	c.1423C>T	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	g	28.5	4.929155	0.92389	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	.	.	.	5.36	4.48	0.54585	.	0.553969	0.18649	N	0.135080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-41.5369	9.8777	0.41213	0.0943:0.0:0.9057:0.0	.	.	.	.	X	475;475;404;475	.	ENSP00000352547:Q475X	Q	-	1	0	GPAT2	96054253	1.000000	0.71417	0.953000	0.39169	0.434000	0.31775	5.405000	0.66351	1.272000	0.44329	0.637000	0.83480	CAG		0.652	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		22	265	0	0	0	1	0	22	265					A	96690526	G	A	96690526	4	1	37	1	0	0	0	0	0	1	0	0	6597	1299	45	3	1000	3	GPAT2	2	96690526	Nonsense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	33637215	96690526	146508847	53	3417										
MGAT4A	11320	broad.mit.edu	37	chr2	99294911	99294911	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttctttcaaagcaaggaattCtcgttgataagcaatcagtt	7	7	4	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:99294911C>G	ENST00000264968.3	-	2	481	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	MGAT4A_ENST00000409391.1_Missense_Mutation_p.E40Q|MGAT4A_ENST00000393487.1_Missense_Mutation_p.E40Q			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	40					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GCAAGGAATTCTCGTTGATAA	0.338																																						ENST00000393487.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						c.(118-120)Gaa>Caa		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A							84	80	82					2																	99294911		2203	4300	6503	SO:0001583	missense	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99294911C>G	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7047	protein-coding gene	gene with protein product		604623	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.118G>C	2.37:g.99294911C>G	ENSP00000264968:p.Glu40Gln		Somatic				MGAT4A_ENST00000264968.2_Missense_Mutation_p.E40Q|MGAT4A_ENST00000409391.1_Missense_Mutation_p.E40Q	p.E40Q	NM_012214.2	NP_036346.1	WXS	Illumina GAIIx	Phase_I	Q9UM21	MGT4A_HUMAN			3	431	-			40					B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	c.118G>C	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073853	0.55646	.	.	ENSG00000071073	ENST00000393487;ENST00000264968;ENST00000409391	T;T;T	0.24723	1.84;1.84;1.84	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.23886	0.0578	L	0.36672	1.1	0.80722	D	1	P	0.48503	0.911	B	0.41332	0.354	T	0.01448	-1.1352	10	0.27082	T	0.32	.	18.359	0.90368	0.0:1.0:0.0:0.0	.	40	Q9UM21	MGT4A_HUMAN	Q	40	ENSP00000377127:E40Q;ENSP00000264968:E40Q;ENSP00000386841:E40Q	ENSP00000264968:E40Q	E	-	1	0	MGAT4A	98661343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.299000	0.78831	2.576000	0.86940	0.555000	0.69702	GAA		0.338	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		5	26	0	0	0	1	0	5	26					G	99294911	C	G	99294911	3	3	37	1	0	0	0	0	1	0	0	0	9554	922	32	2	1647	2	MGAT4A	2	99294911	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	2604385	99294911	143904462	54	3418										
REV1	51455	broad.mit.edu	37	chr2	100022444	100022444	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	acaggagtatgtagaccattCcatttccctgaagactcagc	8	11	1	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:100022444C>G	ENST00000258428.3	-	17	2967	c.2739G>C	c.(2737-2739)tgG>tgC	p.W913C	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.W912C|RP11-527J8.1_ENST00000608144.1_RNA	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	913					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						GTAGACCATTCCATTTCCCTG	0.443								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.(2737-2739)tgG>tgC	Direct reversal of damage	REV1, polymerase (DNA directed)							107	97	100					2																	100022444		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100022444C>G	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.2739G>C	2.37:g.100022444C>G	ENSP00000258428:p.Trp913Cys		Somatic				REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.W912C	p.W913C	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	WXS	Illumina GAIIx	Phase_I	Q9UBZ9	REV1_HUMAN			17	2967	-			913					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.2739G>C	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005578	0.54254	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.27104	1.69;1.69	5.99	5.11	0.69529	.	0.361710	0.32608	N	0.005864	T	0.41282	0.1152	M	0.68317	2.08	0.49483	D	0.999795	D;D	0.59357	0.985;0.975	P;P	0.51999	0.628;0.687	T	0.28933	-1.0028	10	0.38643	T	0.18	.	17.3913	0.87432	0.0:0.8754:0.1246:0.0	.	913;912	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	C	912;913	ENSP00000377091:W912C;ENSP00000258428:W913C	ENSP00000258428:W913C	W	-	3	0	REV1	99388876	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.593000	0.46180	1.529000	0.49120	0.655000	0.94253	TGG		0.443	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		3	47	0	0	0	1	0	3	47					G	100022444	C	G	100022444	3	3	37	1	0	0	0	0	1	0	0	0	13254	856	30	2	1044	2	REV1	2	100022444	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	727533	100022444	143176929	55	3419										
IL1R1	3554	broad.mit.edu	37	chr2	102792941	102792941	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aaatagccatgtataatgctCttgttcaggatggaattaaa	8	5	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:102792941C>G	ENST00000410023.1	+	12	1750	c.1432C>G	c.(1432-1434)Ctt>Gtt	p.L478V	IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409929.1_Missense_Mutation_p.L447V|IL1R1_ENST00000233946.3_Missense_Mutation_p.L478V|IL1R1_ENST00000409589.1_Intron|AC007271.3_ENST00000428188.1_RNA			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	478	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GTATAATGCTCTTGTTCAGGA	0.388																																						ENST00000410023.1																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(1432-1434)Ctt>Gtt		interleukin 1 receptor, type I	Anakinra(DB00026)						70	68	69					2																	102792941		2203	4300	6503	SO:0001583	missense	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102792941C>G	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1432C>G	2.37:g.102792941C>G	ENSP00000386380:p.Leu478Val		Somatic				IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409929.1_Missense_Mutation_p.L447V|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Missense_Mutation_p.L478V	p.L478V			WXS	Illumina GAIIx	Phase_I	P14778	IL1R1_HUMAN			12	1750	+			478			TIR.		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.1432C>G	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769703	0.69992	.	.	ENSG00000115594	ENST00000409929;ENST00000410023;ENST00000233946	T;T;T	0.10477	2.87;2.87;2.87	5.61	4.71	0.59529	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.128869	0.53938	D	0.000049	T	0.37705	0.1013	M	0.87827	2.91	0.41375	D	0.987511	D;D	0.76494	0.998;0.999	D;D	0.79108	0.988;0.992	T	0.43653	-0.9378	10	0.87932	D	0	.	13.6895	0.62537	0.0:0.9231:0.0:0.0769	.	447;478	B8ZZW4;P14778	.;IL1R1_HUMAN	V	447;478;478	ENSP00000386776:L447V;ENSP00000386380:L478V;ENSP00000233946:L478V	ENSP00000233946:L478V	L	+	1	0	IL1R1	102159373	1.000000	0.71417	0.595000	0.28798	0.983000	0.72400	4.067000	0.57527	1.309000	0.44985	0.563000	0.77884	CTT		0.388	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			5	45	0	0	0	1	0	5	45					G	102792941	C	G	102792941	3	3	37	1	0	0	0	0	1	0	0	0	7667	913	32	2	1470	2	IL1R1	2	102792941	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	2770497	102792941	140406432	56	3420										
DPP10	57628	broad.mit.edu	37	chr2	116548751	116548751	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aaaatccttcatattgacgaCtatggtaaaattttgtgcat	6	6	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:116548751C>G	ENST00000410059.1	+	18	2106	c.1626C>G	c.(1624-1626)gaC>gaG	p.D542E	DPP10_ENST00000310323.8_Missense_Mutation_p.D535E|DPP10_ENST00000409163.1_Missense_Mutation_p.D492E|DPP10_ENST00000393147.2_Missense_Mutation_p.D546E	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	542						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						ATATTGACGACTATGGTAAAA	0.323																																						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.(1624-1626)gaC>gaG		dipeptidyl-peptidase 10 (non-functional)							76	79	78					2																	116548751		2200	4300	6500	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116548751C>G	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.1626C>G	2.37:g.116548751C>G	ENSP00000386565:p.Asp542Glu		Somatic				DPP10_ENST00000310323.8_Missense_Mutation_p.D535E|DPP10_ENST00000393147.2_Missense_Mutation_p.D546E|DPP10_ENST00000409163.1_Missense_Mutation_p.D492E	p.D542E	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	WXS	Illumina GAIIx	Phase_I	Q8N608	DPP10_HUMAN			18	2106	+			542					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1626C>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337081	0.41398	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.54	3.66	0.41972	.	0.436627	0.27134	N	0.020772	T	0.35422	0.0931	M	0.66939	2.045	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.0;0.001;0.001	T	0.19647	-1.0299	10	0.33141	T	0.24	-13.0574	4.0754	0.09901	0.184:0.617:0.0:0.199	.	535;546;538;542	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	E	542;492;546;535;492	ENSP00000386565:D542E;ENSP00000387038:D492E;ENSP00000376855:D546E;ENSP00000309066:D535E	ENSP00000309066:D535E	D	+	3	2	DPP10	116265221	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.091000	0.15046	0.811000	0.34303	0.650000	0.86243	GAC		0.323	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		4	30	0	0	0	1	0	4	30					G	116548751	C	G	116548751	3	3	37	1	0	0	0	0	1	0	0	0	4729	564	20	5	1867	5	DPP10	2	116548751	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	13755810	116548751	126650622	57	3421										
LRP1B	53353	broad.mit.edu	37	chr2	140990855	140990855	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttcgacagttttgcccatccAtatataattttgcatatacc	4	10	0	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:140990855A>G	ENST00000389484.3	-	91	14671	c.13700T>C	c.(13699-13701)aTg>aCg	p.M4567T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4567					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)		TTGCCCATCCATATATAATTT	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.(13699-13701)aTg>aCg		low density lipoprotein receptor-related protein 1B							87	85	86					2																	140990855		2202	4299	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140990855A>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.13700T>C	2.37:g.140990855A>G	ENSP00000374135:p.Met4567Thr	TSP Lung(27;0.18)	Somatic					p.M4567T	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	14671	-		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)	4567					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13700T>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.82|12.82	2.052817|2.052817	0.36181|0.36181	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.48201|.	0.82|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.062952|.	0.64402|.	U|.	0.000007|.	T|T	0.64450|0.64450	0.2599|0.2599	L|L	0.52011|0.52011	1.625|1.625	0.36368|0.36368	D|D	0.861159|0.861159	B|.	0.24092|.	0.097|.	B|.	0.16722|.	0.016|.	T|T	0.69000|0.69000	-0.5261|-0.5261	10|5	0.56958|.	D|.	0.05|.	.|.	15.9456|15.9456	0.79789|0.79789	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	4567|.	Q9NZR2|.	LRP1B_HUMAN|.	T|R	4567;4505|766	ENSP00000374135:M4567T|.	ENSP00000374135:M4567T|.	M|W	-|-	2|1	0|0	LRP1B|LRP1B	140707325|140707325	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.962000|8.962000	0.93254|0.93254	2.167000|2.167000	0.68274|0.68274	0.477000|0.477000	0.44152|0.44152	ATG|TGG		0.323	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	26	0	0	0	1	0	4	26					G	140990855	A	G	140990855	3	3	37	1	0	0	0	0	1	0	0	0	8964	217	8	4	103	4	LRP1B	2	140990855	Missense_Mutation	SNP	A	TCGA-N9-A4Q7-01A-11D-A28R-08	24442104	140990855	102208518	58	3422										
LRP2	4036	broad.mit.edu	37	chr2	170058204	170058204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	accattgcagataaactcacGaggtatgcaccttctgttat	7	10	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:170058204G>A	ENST00000263816.3	-	44	8671	c.8386C>T	c.(8386-8388)Cgt>Tgt	p.R2796C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2796	LDL-receptor class A 18. {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)"	ATAAACTCACGAGGTATGCAC	0.433																																						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.(8386-8388)Cgt>Tgt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						174	154	161					2																	170058204		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.chr2:170058204G>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.8386C>T	2.37:g.170058204G>A	ENSP00000263816:p.Arg2796Cys		Somatic					p.R2796C	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)	44	8671	-			2796			LDL-receptor class A 18.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8386C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951240	0.53186	.	.	ENSG00000081479	ENST00000263816	D	0.95690	-3.78	5.92	4.12	0.48240	.	0.622966	0.17896	N	0.158355	D	0.96664	0.8911	M	0.80847	2.515	0.33219	D	0.554447	D	0.69078	0.997	P	0.56916	0.809	D	0.97187	0.9855	10	0.56958	D	0.05	.	11.2383	0.48953	0.0656:0.0:0.8062:0.1281	.	2796	P98164	LRP2_HUMAN	C	2796	ENSP00000263816:R2796C	ENSP00000263816:R2796C	R	-	1	0	LRP2	169766450	0.941000	0.31946	0.006000	0.13384	0.527000	0.34593	4.297000	0.59061	0.823000	0.34589	0.650000	0.86243	CGT		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	64	0	0	0	1	0	5	64					A	170058204	G	A	170058204	3	1	37	1	0	0	0	0	1	0	0	0	8965	1058	37	1	5725	1	LRP2	2	170058204	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	29067349	170058204	73141169	59	3423										
LRP2	4036	broad.mit.edu	37	chr2	170062596	170062596	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gggctatcacagtgcggttaGacccatcttcagccatggaa	11	11	3	1	rs142613860		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:170062596G>A	ENST00000263816.3	-	40	7778	c.7493C>T	c.(7492-7494)tCt>tTt	p.S2498F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2498					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)"	AGTGCGGTTAGACCCATCTTC	0.438																																						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.(7492-7494)tCt>tTt		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)						160	151	154					2																	170062596		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.chr2:170062596G>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.7493C>T	2.37:g.170062596G>A	ENSP00000263816:p.Ser2498Phe		Somatic					p.S2498F	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)	40	7778	-			2498					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.7493C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205859	0.58234	.	.	ENSG00000081479	ENST00000263816	D	0.91631	-2.88	6.17	6.17	0.99709	Six-bladed beta-propeller, TolB-like (1);	0.099099	0.64402	D	0.000001	D	0.93697	0.7986	M	0.88181	2.935	0.80722	D	1	B	0.26744	0.158	B	0.19148	0.024	D	0.90956	0.4809	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2498	P98164	LRP2_HUMAN	F	2498	ENSP00000263816:S2498F	ENSP00000263816:S2498F	S	-	2	0	LRP2	169770842	1.000000	0.71417	0.972000	0.41901	0.656000	0.38851	6.608000	0.74168	2.941000	0.99782	0.655000	0.94253	TCT		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		19	99	0	0	0	1	0	19	99					A	170062596	G	A	170062596	3	1	37	1	0	0	0	0	1	0	0	0	8965	942	33	3	6634	3	LRP2	2	170062596	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	4392	170062596	73136777	60	3424										
NFE2L2	4780	broad.mit.edu	37	chr2	178095660	178095660	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	acttcgagatataaggtgctGagttgttttttcagtaggtg	12	4	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:178095660G>C	ENST00000397062.3	-	5	2225	c.1671C>G	c.(1669-1671)ctC>ctG	p.L557L	NFE2L2_ENST00000397063.4_Silent_p.L541L|NFE2L2_ENST00000464747.1_Silent_p.L541L|NFE2L2_ENST00000446151.2_Silent_p.L534L	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	557	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ATAAGGTGCTGAGTTGTTTTT	0.363			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"NSCLC, HNSCC"		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(1669-1671)ctC>ctG		nuclear factor, erythroid 2-like 2							213	191	198					2																	178095660		1856	4087	5943	SO:0001819	synonymous_variant	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178095660G>C		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1671C>G	2.37:g.178095660G>C		HNSCC(56;0.16)	Somatic				NFE2L2_ENST00000464747.1_Silent_p.L541L|NFE2L2_ENST00000446151.2_Silent_p.L534L|NFE2L2_ENST00000397063.4_Silent_p.L541L	p.L557L	NM_006164.4	NP_006155.2	WXS	Illumina GAIIx	Phase_I	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	2225	-			557					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Silent	SNP	ENST00000397062.3	37	c.1671C>G	CCDS42782.1																																																																																				0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		8	93	0	0	0	1	0	8	93					C	178095660	G	C	178095660	2	2	37	1	0	0	0	0	0	0	0	1	10377	1277	45	2		2	NFE2L2	2	178095660	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	8033064	178095660	65103713	61	3425										
NFE2L2	4780	broad.mit.edu	37	chr2	178095740	178095740	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttctttttcatctttcaaatGatctaaatcttgctctagtt	3	8	7	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:178095740G>A	ENST00000397062.3	-	5	2145	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y	NFE2L2_ENST00000397063.4_Missense_Mutation_p.H515Y|NFE2L2_ENST00000464747.1_Missense_Mutation_p.H515Y|NFE2L2_ENST00000446151.2_Missense_Mutation_p.H508Y	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	531	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCTTTCAAATGATCTAAATCT	0.343			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"NSCLC, HNSCC"		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(1591-1593)Cat>Tat		nuclear factor, erythroid 2-like 2							146	128	134					2																	178095740		1817	4073	5890	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178095740G>A		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1591C>T	2.37:g.178095740G>A	ENSP00000380252:p.His531Tyr	HNSCC(56;0.16)	Somatic				NFE2L2_ENST00000464747.1_Missense_Mutation_p.H515Y|NFE2L2_ENST00000446151.2_Missense_Mutation_p.H508Y|NFE2L2_ENST00000397063.4_Missense_Mutation_p.H515Y	p.H531Y	NM_006164.4	NP_006155.2	WXS	Illumina GAIIx	Phase_I	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	2145	-			531			Leucine-zipper.		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.1591C>T	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370792	0.24771	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79	5.95	5.95	0.96441	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.254572	0.47093	D	0.000248	D	0.84261	0.5433	L	0.34521	1.04	0.80722	D	1	B;B	0.22080	0.016;0.064	B;B	0.18263	0.021;0.021	T	0.79045	-0.1964	10	0.49607	T	0.09	-16.8696	8.7206	0.34439	0.0699:0.0:0.6675:0.2626	.	508;531	E9PGJ7;Q16236	.;NF2L2_HUMAN	Y	515;531;508;259	ENSP00000380253:H515Y;ENSP00000380252:H531Y;ENSP00000411575:H508Y;ENSP00000391590:H259Y	ENSP00000380252:H531Y	H	-	1	0	NFE2L2	177803986	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.459000	0.45023	2.817000	0.96982	0.563000	0.77884	CAT		0.343	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		9	60	0	0	0	1	0	9	60					A	178095740	G	A	178095740	3	1	37	1	0	0	0	0	1	0	0	0	10377	1290	45	3	230	3	NFE2L2	2	178095740	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	80	178095740	65103633	62	3426										
TTN	7273	broad.mit.edu	37	chr2	179411742	179411742	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	atacataccaactggattttGagccattataggtcttgaag	8	7	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:179411742G>C	ENST00000591111.1	-	290	89811	c.89587C>G	c.(89587-89589)Caa>Gaa	p.Q29863E	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q22564E|TTN_ENST00000460472.2_Missense_Mutation_p.Q22439E|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q22631E|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q31504E|TTN_ENST00000342992.6_Missense_Mutation_p.Q28936E|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_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29863	Fibronectin type-III 117. {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)			ACTGGATTTTGAGCCATTATA	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.(94510-94512)Caa>Gaa		titin							162	156	158					2																	179411742		1894	4116	6010	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411742G>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.89587C>G	2.37:g.179411742G>C	ENSP00000465570:p.Gln29863Glu		Somatic				TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q22631E|TTN_ENST00000342992.6_Missense_Mutation_p.Q28936E|TTN_ENST00000591111.1_Missense_Mutation_p.Q29863E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q22564E|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q22439E|TTN-AS1_ENST00000590932.1_RNA	p.Q31504E	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)		340	94734	-			29863			Ig-like 140.		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.94510C>G		.	.	.	.	.	.	.	.	.	.	G	13.41	2.228694	0.39399	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.97	5.97	0.96955	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39708	0.1088	N	0.16743	0.435	0.80722	D	1	P;P;P;P	0.50066	0.931;0.931;0.931;0.931	B;B;B;B	0.42462	0.388;0.388;0.388;0.388	T	0.41858	-0.9485	9	0.87932	D	0	.	20.4214	0.99039	0.0:0.0:1.0:0.0	.	22439;22564;22631;29863	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	28936;22439;22631;22564;22436	ENSP00000343764:Q28936E;ENSP00000434586:Q22439E;ENSP00000340554:Q22631E;ENSP00000352154:Q22564E	ENSP00000340554:Q22631E	Q	-	1	0	TTN	179119988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.954000	0.87848	2.820000	0.97059	0.655000	0.94253	CAA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	113	0	0	0	1	0	19	113					C	179411742	G	C	179411742	3	2	37	1	0	0	0	0	1	0	0	0	16750	1299	45	2	13561	2	TTN	2	179411742	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	1316002	179411742	63787631	63	3427										
TTN	7273	broad.mit.edu	37	chr2	179632801	179632801	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gtacagtgatgtcaggttcaGaaacttcacattcaaacatg	8	8	4	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:179632801G>A	ENST00000591111.1	-	39	9469	c.9245C>T	c.(9244-9246)tCt>tTt	p.S3082F	TTN_ENST00000359218.5_Missense_Mutation_p.S3036F|TTN_ENST00000460472.2_Missense_Mutation_p.S3036F|TTN_ENST00000360870.5_Missense_Mutation_p.S3082F|TTN_ENST00000342175.6_Missense_Mutation_p.S3036F|TTN_ENST00000589042.1_Missense_Mutation_p.S3082F|TTN_ENST00000342992.6_Missense_Mutation_p.S3082F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13414	Ig-like 18.				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)			GTCAGGTTCAGAAACTTCACA	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.(9244-9246)tCt>tTt		titin							154	139	144					2																	179632801		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179632801G>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.9245C>T	2.37:g.179632801G>A	ENSP00000465570:p.Ser3082Phe		Somatic				TTN_ENST00000360870.5_Missense_Mutation_p.S3082F|TTN_ENST00000342175.6_Missense_Mutation_p.S3036F|TTN_ENST00000342992.6_Missense_Mutation_p.S3082F|TTN_ENST00000591111.1_Missense_Mutation_p.S3082F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S3036F|TTN_ENST00000460472.2_Missense_Mutation_p.S3036F	p.S3082F	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)		39	9469	-			2819			Ig-like 18.		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.9245C>T		.	.	.	.	.	.	.	.	.	.	G	16.14	3.038478	0.55003	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84383	0.5460	M	0.82517	2.595	0.47547	D	0.99945	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	0.85467	0.1170	9	0.87932	D	0	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	3036;3036;3036;3082;3082	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	F	3082;3036;3036;3036;3036;3082	ENSP00000343764:S3082F;ENSP00000434586:S3036F;ENSP00000340554:S3036F;ENSP00000352154:S3036F;ENSP00000354117:S3082F	ENSP00000340554:S3036F	S	-	2	0	TTN	179341046	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.420000	0.97426	2.854000	0.98071	0.655000	0.94253	TCT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	51	0	0	0	1	0	7	51					A	179632801	G	A	179632801	3	1	37	1	0	0	0	0	1	0	0	0	16750	942	33	3	102039	3	TTN	2	179632801	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	221059	179632801	63566572	64	3428										
STAT1	6772	broad.mit.edu	37	chr2	191844515	191844515	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tacccatcattccagagaggGagcaggtgttttttaatgag	11	7	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:191844515G>T	ENST00000361099.3	-	20	2097	c.1710C>A	c.(1708-1710)ctC>ctA	p.L570L	STAT1_ENST00000409465.1_Silent_p.L570L|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Silent_p.L572L|STAT1_ENST00000392322.3_Silent_p.L570L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	570					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)			TCCAGAGAGGGAGCAGGTGTT	0.388																																						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.(1708-1710)ctC>ctA		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						97	100	99					2																	191844515		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.chr2:191844515G>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.1710C>A	2.37:g.191844515G>T			Somatic				STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.L570L|STAT1_ENST00000392322.3_Silent_p.L570L|STAT1_ENST00000392323.2_Silent_p.L572L	p.L570L	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)		20	2097	-			570					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	37	c.1710C>A	CCDS2309.1																																																																																				0.388	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		4	28	1	0	0.00909568	1	0.00922289	4	28					T	191844515	G	T	191844515	2	4	37	1	0	0	0	0	0	0	0	1	15279	1161	41	2		2	STAT1	2	191844515	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	12211714	191844515	51354858	65	3429										
TRAK2	66008	broad.mit.edu	37	chr2	202245467	202245467	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttctcttgggcaccagggttCttgaccactctggctatccc	9	14	3	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:202245467C>G	ENST00000332624.3	-	16	2972	c.2544G>C	c.(2542-2544)aaG>aaC	p.K848N		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	848					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CACCAGGGTTCTTGACCACTC	0.478																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(2542-2544)aaG>aaC		trafficking protein, kinesin binding 2							79	84	82					2																	202245467		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202245467C>G	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"gamma-aminobutyric acid(A) receptor-interacting factor", "milton homolog 2 (Drosophila)", "O-linked N-acetylglucosamine transferase interacting protein 98"	607334	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.2544G>C	2.37:g.202245467C>G	ENSP00000328875:p.Lys848Asn		Somatic					p.K848N	NM_015049.2	NP_055864.2	WXS	Illumina GAIIx	Phase_I	O60296	TRAK2_HUMAN			16	2972	-			848	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.2544G>C	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	C	1.477	-0.558216	0.03967	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.06687	3.27	5.55	3.78	0.43462	.	0.132111	0.51477	D	0.000087	T	0.04227	0.0117	N	0.14661	0.345	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.41395	-0.9511	10	0.15066	T	0.55	.	6.2666	0.20930	0.0:0.6528:0.1339:0.2133	.	848	O60296	TRAK2_HUMAN	N	848;754	ENSP00000328875:K848N	ENSP00000328875:K848N	K	-	3	2	TRAK2	201953712	0.364000	0.24997	0.777000	0.31699	0.604000	0.37047	0.734000	0.26101	0.913000	0.36797	0.591000	0.81541	AAG		0.478	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		12	96	0	0	0	1	0	12	96					G	202245467	C	G	202245467	3	3	37	1	0	0	0	0	1	0	0	0	16465	912	32	2	204	2	TRAK2	2	202245467	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	10400952	202245467	40953906	66	3430										
ZDBF2	57683	broad.mit.edu	37	chr2	207173234	207173234	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gctatgtgcccagtgattctGaaataatttatgtttcaaat	7	6	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:207173234G>C	ENST00000374423.3	+	5	4368	c.3982G>C	c.(3982-3984)Gaa>Caa	p.E1328Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1328							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						CAGTGATTCTGAAATAATTTA	0.383																																						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.(3982-3984)Gaa>Caa		zinc finger, DBF-type containing 2							50	49	49					2																	207173234		1844	4077	5921	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207173234G>C	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.3982G>C	2.37:g.207173234G>C	ENSP00000363545:p.Glu1328Gln		Somatic					p.E1328Q	NM_020923.1	NP_065974.1	WXS	Illumina GAIIx	Phase_I	Q9HCK1	ZDBF2_HUMAN			5	4368	+			1328					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3982G>C	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478676	0.26511	.	.	ENSG00000204186	ENST00000374423	T	0.48522	0.81	4.22	0.267	0.15622	.	.	.	.	.	T	0.44603	0.1301	M	0.65975	2.015	0.09310	N	1	P	0.49783	0.928	P	0.45343	0.477	T	0.35126	-0.9801	9	0.54805	T	0.06	.	4.1052	0.10033	0.2967:0.1727:0.5306:0.0	.	1328	Q9HCK1	ZDBF2_HUMAN	Q	1328	ENSP00000363545:E1328Q	ENSP00000363545:E1328Q	E	+	1	0	ZDBF2	206881479	0.002000	0.14202	0.001000	0.08648	0.542000	0.35054	-0.101000	0.10973	0.028000	0.15324	0.650000	0.86243	GAA		0.383	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		5	42	0	0	0	1	0	5	42					C	207173234	G	C	207173234	3	2	37	1	0	0	0	0	1	0	0	0	17614	1291	45	2	3992	2	ZDBF2	2	207173234	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	4927767	207173234	36026139	67	3431										
ABCA12	26154	broad.mit.edu	37	chr2	215852431	215852431	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	catgaggccattgctcttctCaggcttcacctctgcacacc	7	16	4	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:215852431C>G	ENST00000272895.7	-	27	4135	c.3916G>C	c.(3916-3918)Gag>Cag	p.E1306Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.E988Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1306					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTGCTCTTCTCAGGCTTCACC	0.458																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(3916-3918)Gag>Cag		ATP-binding cassette, sub-family A (ABC1), member 12							129	107	114					2																	215852431		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215852431C>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3916G>C	2.37:g.215852431C>G	ENSP00000272895:p.Glu1306Gln		Somatic				ABCA12_ENST00000389661.4_Missense_Mutation_p.E988Q	p.E1306Q	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)	27	4135	-		Renal(323;0.127)	1306					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.3916G>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	c	16.10	3.028745	0.54790	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89123	-2.47;-2.46	5.26	4.38	0.52667	.	1.042900	0.07518	N	0.910077	D	0.88908	0.6565	M	0.63843	1.955	0.80722	D	1	D;P	0.54772	0.968;0.713	P;B	0.47981	0.563;0.397	T	0.80011	-0.1561	10	0.18710	T	0.47	.	9.5698	0.39420	0.0:0.7819:0.1437:0.0744	.	1306;988	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Q	1306;988	ENSP00000272895:E1306Q;ENSP00000374312:E988Q	ENSP00000272895:E1306Q	E	-	1	0	ABCA12	215560676	0.998000	0.40836	0.998000	0.56505	0.967000	0.64934	3.729000	0.54999	1.236000	0.43740	-0.217000	0.12591	GAG		0.458	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		9	27	0	0	0	1	0	9	27					G	215852431	C	G	215852431	3	3	37	1	0	0	0	0	1	0	0	0	30	835	29	2	3979	2	ABCA12	2	215852431	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	8679197	215852431	27346942	68	3432										
IRS1	3667	broad.mit.edu	37	chr2	227662588	227662588	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tggctgggcgggggattgttGagatggtgccggcgcagggg	23	6	0	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:227662588G>C	ENST00000305123.5	-	1	1887	c.867C>G	c.(865-867)ctC>ctG	p.L289L	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	289	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)		GGGGATTGTTGAGATGGTGCC	0.672											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(865-867)ctC>ctG		insulin receptor substrate 1							51	59	56					2																	227662588		2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662588G>C		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.867C>G	2.37:g.227662588G>C			Somatic	OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.L289L	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	1887	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	289			Ser-rich.			Silent	SNP	ENST00000305123.5	37	c.867C>G	CCDS2463.1																																																																																				0.672	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		7	108	0	0	0	1	0	7	108					C	227662588	G	C	227662588	2	2	37	1	0	0	0	0	0	0	0	1	7849	1277	45	2		2	IRS1	2	227662588	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	11810157	227662588	15536785	69	3433										
SPHKAP	80309	broad.mit.edu	37	chr2	228855726	228855726	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tacatgataccttttcaattCtgttttcctgagatttctta	4	8	3	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:228855726C>G	ENST00000392056.3	-	11	4995	c.4949G>C	c.(4948-4950)aGa>aCa	p.R1650T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1621T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1650						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)		CTTTTCAATTCTGTTTTCCTG	0.453																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4948-4950)aGa>aCa		SPHK1 interactor, AKAP domain containing							78	77	78					2																	228855726		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228855726C>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.4949G>C	2.37:g.228855726C>G	ENSP00000375909:p.Arg1650Thr		Somatic				SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1621T	p.R1650T	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)	11	4995	-		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)	1650					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4949G>C	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474022	0.63737	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.06218	3.33;3.33	6.17	5.3	0.74995	A-kinase anchor 110kDa, C-terminal (1);	0.237565	0.47093	D	0.000245	T	0.19005	0.0456	L	0.60455	1.87	0.34737	D	0.730322	D;D	0.71674	0.99;0.998	P;D	0.71656	0.871;0.974	T	0.16070	-1.0415	10	0.56958	D	0.05	.	10.7366	0.46128	0.0:0.8572:0.0:0.1428	.	1650;1621	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	T	1650;1621	ENSP00000375909:R1650T;ENSP00000339886:R1621T	ENSP00000339886:R1621T	R	-	2	0	SPHKAP	228563970	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	1.732000	0.38146	1.635000	0.50512	0.655000	0.94253	AGA		0.453	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		7	76	0	0	0	1	0	7	76					G	228855726	C	G	228855726	3	3	37	1	0	0	0	0	1	0	0	0	15063	913	32	2	161	2	SPHKAP	2	228855726	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	1193138	228855726	14343647	70	3434										
CHRND	1144	broad.mit.edu	37	chr2	233393337	233393337	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tctgtcacctatttccccttCgactggcagaactgctccct	6	16	2	1	rs200986300	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:233393337C>T	ENST00000258385.3	+	5	512	c.480C>T	c.(478-480)ttC>ttT	p.F160F	CHRND_ENST00000543200.1_Silent_p.F145F|CHRND_ENST00000536614.1_Silent_p.F160F|CHRND_ENST00000457943.2_Missense_Mutation_p.S70L	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	160					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.F160F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	ATTTCCCCTTCGACTGGCAGA	0.577													C|||	2	0.000399361	0	0	5008	,	,		18768	0.001		0	False		,,,				2504	0.001					ENST00000457943.2																			1	Substitution - coding silent(1)	p.F160F(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(208-210)tCg>tTg		cholinergic receptor, nicotinic, delta (muscle)							151	133	139					2																	233393337		2203	4300	6503	SO:0001819	synonymous_variant	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233393337C>T	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.480C>T	2.37:g.233393337C>T			Somatic				CHRND_ENST00000258385.3_Silent_p.F160F|CHRND_ENST00000536614.1_Silent_p.F160F|CHRND_ENST00000543200.1_Silent_p.F145F	p.S70L			WXS	Illumina GAIIx	Phase_I	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	5	508	+		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)	0					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.209C>T	CCDS2494.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.602	0.295835	0.10622	.	.	ENSG00000135902	ENST00000457943	D	0.85088	-1.94	4.46	-0.502	0.12004	.	.	.	.	.	T	0.63768	0.2539	.	.	.	0.26732	N	0.970561	B	0.06786	0.001	B	0.04013	0.001	T	0.51663	-0.8677	8	0.02654	T	1	.	8.4683	0.32969	0.0:0.3396:0.0:0.6604	.	70	B4E3W4	.	L	70	ENSP00000391055:S70L	ENSP00000391055:S70L	S	+	2	0	CHRND	233101581	0.000000	0.05858	0.998000	0.56505	0.993000	0.82548	-1.873000	0.01637	-0.003000	0.14444	-0.224000	0.12420	TCG		0.577	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			24	115	0	0	0	1	0	24	115					T	233393337	C	T	233393337	2	4	37	1	0	0	0	0	0	0	0	1	3396	883	31	1		1	CHRND	2	233393337	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	4537611	233393337	9806036	71	3435										
SEPT2	4735	broad.mit.edu	37	chr2	242274603	242274603	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tcctaactgatctgtacccaGaaagagtcatacctggagca	8	11	2	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:242274603G>A	ENST00000391973.2	+	4	721	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	SEPT2_ENST00000391971.2_Missense_Mutation_p.E65K|SEPT2_ENST00000407971.1_Missense_Mutation_p.E25K|SEPT2_ENST00000360051.3_Missense_Mutation_p.E65K|SEPT2_ENST00000402092.2_Missense_Mutation_p.E65K|SEPT2_ENST00000401990.1_Missense_Mutation_p.E65K	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	65	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TCTGTACCCAGAAAGAGTCAT	0.348																																						ENST00000391973.2																			0				central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(193-195)Gaa>Aaa		septin 2							80	74	76					2																	242274603		2203	4300	6503	SO:0001583	missense	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242274603G>A	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.193G>A	2.37:g.242274603G>A	ENSP00000375834:p.Glu65Lys		Somatic				SEPT2_ENST00000360051.3_Missense_Mutation_p.E65K|SEPT2_ENST00000402092.2_Missense_Mutation_p.E65K|SEPT2_ENST00000391971.2_Missense_Mutation_p.E65K|SEPT2_ENST00000401990.1_Missense_Mutation_p.E65K|SEPT2_ENST00000407971.1_Missense_Mutation_p.E25K	p.E65K	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)	4	721	+		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)	65					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	37	c.193G>A	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	G	36	5.956853	0.97145	.	.	ENSG00000168385	ENST00000391973;ENST00000428282;ENST00000360051;ENST00000445030;ENST00000407017;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000436795;ENST00000411484;ENST00000434955;ENST00000402092;ENST00000441533;ENST00000443492;ENST00000437066;ENST00000391972;ENST00000449239	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;1.33;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;1.33;2.67;0.69;0.69	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.63534	0.2519	L	0.45051	1.395	0.80722	D	1	B;D;D	0.89917	0.289;1.0;0.99	B;D;D	0.87578	0.265;0.998;0.96	T	0.54410	-0.8298	10	0.30078	T	0.28	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	100;25;65	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	K	65;25;65;65;25;65;65;25;65;76;65;65;65;25;65;100;65	ENSP00000375834:E65K;ENSP00000397195:E25K;ENSP00000353157:E65K;ENSP00000404484:E65K;ENSP00000386001:E25K;ENSP00000375832:E65K;ENSP00000385109:E65K;ENSP00000384525:E25K;ENSP00000406181:E65K;ENSP00000394666:E76K;ENSP00000399767:E65K;ENSP00000385172:E65K;ENSP00000413031:E65K;ENSP00000399195:E25K;ENSP00000412434:E65K;ENSP00000391717:E65K	ENSP00000353157:E65K	E	+	1	0	SEPT2	241923276	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.536000	0.98067	2.840000	0.97914	0.655000	0.94253	GAA		0.348	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		3	17	0	0	0	1	0	3	17					A	242274603	G	A	242274603	3	1	37	1	0	0	0	0	1	0	0	0	14079	943	33	3	203	3	SEPT2	2	242274603	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	8881266	242274603	924770	72	3436										
CRBN	51185	broad.mit.edu	37	chr3	3214548	3214548	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctcaattccaaaatcctgttCttctcgataggcatatatct	4	11	4	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:3214548C>T	ENST00000231948.4	-	4	461	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	CRBN_ENST00000432408.2_Missense_Mutation_p.E146K	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	147	Lon.				negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	AAATCCTGTTCTTCTCGATAG	0.363																																						ENST00000231948.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(439-441)Gaa>Aaa		cereblon							179	174	176					3																	3214548		2203	4300	6503	SO:0001583	missense	51185				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding	g.chr3:3214548C>T	BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"mental retardation, non-syndromic, autosomal recessive, 2A"	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.439G>A	3.37:g.3214548C>T	ENSP00000231948:p.Glu147Lys		Somatic				CRBN_ENST00000432408.2_Missense_Mutation_p.E146K	p.E147K	NM_016302.3	NP_057386.2	WXS	Illumina GAIIx	Phase_I	Q96SW2	CRBN_HUMAN		Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	4	461	-			147			Lon.		B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Missense_Mutation	SNP	ENST00000231948.4	37	c.439G>A	CCDS2562.1	.	.	.	.	.	.	.	.	.	.	C	33	5.284052	0.95489	.	.	ENSG00000113851	ENST00000231948;ENST00000432408;ENST00000546075	T;T	0.40756	1.02;1.02	5.68	5.68	0.88126	Peptidase S16, lon N-terminal (2);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	L	0.52364	1.645	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.997	D;D;D	0.79108	0.91;0.987;0.992	T	0.46470	-0.9189	10	0.14656	T	0.56	-30.6388	19.7759	0.96393	0.0:1.0:0.0:0.0	.	84;146;147	F5H3U1;Q96SW2-2;Q96SW2	.;.;CRBN_HUMAN	K	147;146;84	ENSP00000231948:E147K;ENSP00000412499:E146K	ENSP00000231948:E147K	E	-	1	0	CRBN	3189548	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.311000	0.78958	2.675000	0.91044	0.591000	0.81541	GAA		0.363	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206579.3	NM_016302		8	53	0	0	0	1	0	8	53					T	3214548	C	T	3214548	3	4	37	1	0	0	0	0	1	0	0	0	3853	922	32	3	921	3	CRBN	3	3214548	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08		3214548	194807882	73	3437										
TMEM43	79188	broad.mit.edu	37	chr3	14177406	14177406	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	accacggggacttctcagcaGaggtgagtgctgtgccctac	13	12	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:14177406G>C	ENST00000306077.4	+	10	1134	c.880G>C	c.(880-882)Gag>Cag	p.E294Q	RP11-434D12.1_ENST00000608606.1_Missense_Mutation_p.R39T	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	294					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						CTTCTCAGCAGAGGTGAGTGC	0.552																																						ENST00000306077.4																			0				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						c.(880-882)Gag>Cag		transmembrane protein 43							99	86	90					3																	14177406		2203	4300	6503	SO:0001583	missense	79188					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane		g.chr3:14177406G>C	BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"arrhythmogenic right ventricular dysplasia 5"	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.880G>C	3.37:g.14177406G>C	ENSP00000303992:p.Glu294Gln		Somatic					p.E294Q	NM_024334.2	NP_077310.1	WXS	Illumina GAIIx	Phase_I	Q9BTV4	TMM43_HUMAN			10	1134	+			294					Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Missense_Mutation	SNP	ENST00000306077.4	37	c.880G>C	CCDS2618.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183767	0.57800	.	.	ENSG00000170876	ENST00000306077	T	0.36699	1.24	5.69	5.69	0.88448	.	0.054879	0.64402	D	0.000001	T	0.36082	0.0954	N	0.25286	0.73	0.51482	D	0.999922	D;B	0.52996	0.957;0.204	P;B	0.50490	0.642;0.111	T	0.09443	-1.0674	10	0.52906	T	0.07	-27.3837	15.2972	0.73919	0.0:0.1395:0.8605:0.0	.	224;294	Q8TEP9;Q9BTV4	.;TMM43_HUMAN	Q	294	ENSP00000303992:E294Q	ENSP00000303992:E294Q	E	+	1	0	TMEM43	14152407	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.020000	0.49643	2.691000	0.91804	0.591000	0.81541	GAG		0.552	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252030.2	NM_024334		5	68	0	0	0	1	0	5	68					C	14177406	G	C	14177406	3	2	37	1	0	0	0	0	1	0	0	0	16182	943	33	2	918	2	TMEM43	3	14177406	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	10962858	14177406	183845024	74	3438										
UBP1	7342	broad.mit.edu	37	chr3	33450944	33450944	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cgggttctctgtcttaccttAaaaactttgatttggcagct	8	9	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:33450944A>C	ENST00000283629.3	-	6	1234	c.705T>G	c.(703-705)ttT>ttG	p.F235L	UBP1_ENST00000283628.5_Missense_Mutation_p.F235L|UBP1_ENST00000486388.1_5'Flank|UBP1_ENST00000447368.2_Missense_Mutation_p.F235L	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	235					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						GTCTTACCTTAAAAACTTTGA	0.408																																						ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(703-705)ttT>ttG		upstream binding protein 1 (LBP-1a)							125	123	124					3																	33450944		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33450944A>C	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.705T>G	3.37:g.33450944A>C	ENSP00000283629:p.Phe235Leu		Somatic				UBP1_ENST00000447368.2_Missense_Mutation_p.F235L|UBP1_ENST00000283628.5_Missense_Mutation_p.F235L	p.F235L	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	WXS	Illumina GAIIx	Phase_I	Q9NZI7	UBIP1_HUMAN			6	1234	-			235					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.705T>G	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917816	0.52546	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	T;T;T	0.48836	0.8;0.8;0.8	6.08	-0.38	0.12490	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	M	0.93016	3.37	0.80722	D	1	B;P	0.51933	0.037;0.949	B;P	0.58130	0.024;0.833	T	0.70687	-0.4803	10	0.87932	D	0	-8.7787	10.2184	0.43182	0.6768:0.0:0.3232:0.0	.	235;235	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	L	235	ENSP00000283629:F235L;ENSP00000395558:F235L;ENSP00000283628:F235L	ENSP00000283628:F235L	F	-	3	2	UBP1	33425948	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	2.017000	0.40981	-0.265000	0.09352	0.482000	0.46254	TTT		0.408	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		12	54	0	0	0	1	0	12	54					C	33450944	A	C	33450944	3	2	37	1	0	0	0	0	1	0	0	0	16910	359	13	4	961	4	UBP1	3	33450944	Missense_Mutation	SNP	A	TCGA-N9-A4Q7-01A-11D-A28R-08	19273538	33450944	164571486	75	3439										
TGM4	7047	broad.mit.edu	37	chr3	44952512	44952512	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	acagcctggctatattagatGatgagccagttatcagaggt	11	7	1	4			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:44952512G>C	ENST00000296125.4	+	12	1737	c.1669G>C	c.(1669-1671)Gat>Cat	p.D557H		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	557					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TATATTAGATGATGAGCCAGT	0.463																																						ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1669-1671)Gat>Cat		transglutaminase 4	L-Glutamine(DB00130)						119	109	112					3																	44952512		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44952512G>C	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1669G>C	3.37:g.44952512G>C	ENSP00000296125:p.Asp557His		Somatic					p.D557H	NM_003241.3	NP_003232.2	WXS	Illumina GAIIx	Phase_I	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	12	1737	+			557					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.1669G>C	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324765	0.41197	.	.	ENSG00000163810	ENST00000296125	T	0.79454	-1.27	2.88	1.94	0.25998	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.45867	U	0.000328	T	0.73249	0.3563	N	0.08118	0	0.41821	D	0.990022	D	0.89917	1.0	D	0.72075	0.976	T	0.75294	-0.3368	10	0.87932	D	0	.	10.3317	0.43827	0.0:0.2019:0.7981:0.0	.	557	P49221	TGM4_HUMAN	H	557	ENSP00000296125:D557H	ENSP00000296125:D557H	D	+	1	0	TGM4	44927516	0.974000	0.33945	0.033000	0.17914	0.015000	0.08874	2.156000	0.42310	0.439000	0.26476	0.563000	0.77884	GAT		0.463	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		6	31	0	0	0	1	0	6	31					C	44952512	G	C	44952512	3	2	37	1	0	0	0	0	1	0	0	0	15847	1290	45	2	1715	2	TGM4	3	44952512	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	11501568	44952512	153069918	76	3440										
MST1	327	broad.mit.edu	37	chr3	49723897	49723897	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gacagttgtggcctcttggcGgggctgtgcctcggaccctt	15	12	1	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:49723897G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Missense_Mutation_p.R289C|MST1_ENST00000383728.3_Missense_Mutation_p.R214C|MST1_ENST00000545762.1_3'UTR|MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			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)		GCCTCTTGGCGGGGCTGTGCC	0.657																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(865-867)Cgc>Tgc		macrophage stimulating 1 (hepatocyte growth factor-like)							28	31	30					3																	49723897		2201	4297	6498	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723897G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723897G>A			Somatic				MST1_ENST00000545762.1_3'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.R214C	p.R289C	NM_020998.3	NP_066278.3	WXS	Illumina GAIIx	Phase_I	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	1226	-			275			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.865C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709029	0.89018	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	D;T	0.88124	-2.34;-0.52	5.15	1.11	0.20524	Kringle (1);Kringle-like fold (1);	0.571654	0.14622	N	0.308331	D	0.92397	0.7587	M	0.88377	2.95	0.18873	N	0.999989	D;D	0.76494	0.997;0.999	P;P	0.61397	0.776;0.888	D	0.84585	0.0663	10	0.59425	D	0.04	.	9.8847	0.41255	0.0:0.1259:0.4375:0.4366	.	275;289	P26927;G3XAK1	HGFL_HUMAN;.	C	289;214	ENSP00000414287:R289C;ENSP00000373234:R214C	ENSP00000373234:R214C	R	-	1	0	MST1	49698901	0.014000	0.17966	0.000000	0.03702	0.856000	0.48823	1.909000	0.39917	0.005000	0.14708	0.655000	0.94253	CGC		0.657	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	27	0	0	0	1	0	4	27					A	49723897	G	A	49723897	1	1	37	0	1	0	0	0	0	0	0	0	9899	1116	39	1		1	MST1	3	49723897	IGR	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	4771385	49723897	148298533	77	3441										
PBRM1	55193	broad.mit.edu	37	chr3	52696199	52696199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cccatcttcatcatcatcttCgtcatctgcttctcctttct	2	16	9	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:52696199C>T	ENST00000296302.7	-	4	479	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	PBRM1_ENST00000409057.1_Missense_Mutation_p.E160K|PBRM1_ENST00000356770.4_Missense_Mutation_p.E160K|PBRM1_ENST00000409114.3_Missense_Mutation_p.E160K|PBRM1_ENST00000409767.1_Missense_Mutation_p.E160K|PBRM1_ENST00000337303.4_Missense_Mutation_p.E160K|PBRM1_ENST00000394830.3_Missense_Mutation_p.E160K|PBRM1_ENST00000410007.1_Missense_Mutation_p.E160K			Q86U86	PB1_HUMAN	polybromo 1	160			E -> A (found in a malignant melanoma cell line). {ECO:0000269|PubMed:21248752}.		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)	p.E160*(3)		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)		TCATCATCTTCGTCATCTGCT	0.453			"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"		3	Substitution - Nonsense(3)	p.E160*(3)	kidney(3)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(478-480)Gaa>Aaa		polybromo 1							333	291	306					3																	52696199		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.chr3:52696199C>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.478G>A	3.37:g.52696199C>T	ENSP00000296302:p.Glu160Lys		Somatic				PBRM1_ENST00000409767.1_Missense_Mutation_p.E160K|PBRM1_ENST00000410007.1_Missense_Mutation_p.E160K|PBRM1_ENST00000409114.3_Missense_Mutation_p.E160K|PBRM1_ENST00000409057.1_Missense_Mutation_p.E160K|PBRM1_ENST00000394830.3_Missense_Mutation_p.E160K|PBRM1_ENST00000337303.4_Missense_Mutation_p.E160K|PBRM1_ENST00000296302.7_Missense_Mutation_p.E160K	p.E160K			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	480	-			160		E -> A (found in a malignant melanoma cell line).			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.478G>A		.	.	.	.	.	.	.	.	.	.	C	25.0	4.595303	0.86953	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678	T;T;T;T;T;T;T;T;T;T;T	0.46819	1.34;1.33;1.37;1.33;1.33;1.33;1.79;1.33;1.32;1.31;0.86	5.5	5.5	0.81552	Bromodomain (1);	0.298816	0.36066	N	0.002804	T	0.22205	0.0535	N	0.08118	0	0.80722	D	1	B;B;P;P;B;B;P;P;P	0.48640	0.098;0.335;0.47;0.47;0.33;0.283;0.913;0.47;0.47	B;B;B;B;B;B;B;B;B	0.30855	0.023;0.032;0.035;0.035;0.017;0.057;0.121;0.035;0.035	T	0.30475	-0.9977	10	0.06365	T	0.9	-2.7705	19.4035	0.94640	0.0:1.0:0.0:0.0	.	160;160;160;160;160;160;160;160;160	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	K	160;160;160;160;160;160;160;160;160;104;160	ENSP00000349213:E160K;ENSP00000378307:E160K;ENSP00000296302:E160K;ENSP00000338302:E160K;ENSP00000386593:E160K;ENSP00000386529:E160K;ENSP00000386643:E160K;ENSP00000386601:E160K;ENSP00000387775:E160K;ENSP00000397662:E104K;ENSP00000409939:E160K	ENSP00000296302:E160K	E	-	1	0	PBRM1	52671239	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	7.277000	0.78572	2.590000	0.87494	0.650000	0.86243	GAA		0.453	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		28	172	0	0	0	1	0	28	172					T	52696199	C	T	52696199	3	4	37	1	0	0	0	0	1	0	0	0	11500	893	31	1	4530	1	PBRM1	3	52696199	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	2972302	52696199	145326231	78	3442										
ZBTB11	27107	broad.mit.edu	37	chr3	101370146	101370146	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tactttggtcagaaagtgtaGataccgatggatactcttca	9	7	3	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:101370146G>C	ENST00000312938.4	-	11	3606	c.3026C>G	c.(3025-3027)tCt>tGt	p.S1009C		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	1009					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						AGAAAGTGTAGATACCGATGG	0.418																																						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.(3025-3027)tCt>tGt		zinc finger and BTB domain containing 11							152	140	144					3																	101370146		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101370146G>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.3026C>G	3.37:g.101370146G>C	ENSP00000326200:p.Ser1009Cys		Somatic					p.S1009C	NM_014415.3	NP_055230.2	WXS	Illumina GAIIx	Phase_I	O95625	ZBT11_HUMAN			11	3606	-			1009					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.3026C>G	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541268	0.85917	.	.	ENSG00000066422	ENST00000312938	T	0.12672	2.66	5.39	5.39	0.77823	.	0.064329	0.64402	D	0.000006	T	0.21801	0.0525	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.01114	-1.1447	10	0.02654	T	1	-13.5054	19.5182	0.95174	0.0:0.0:1.0:0.0	.	1009	O95625	ZBT11_HUMAN	C	1009	ENSP00000326200:S1009C	ENSP00000326200:S1009C	S	-	2	0	ZBTB11	102852836	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	9.420000	0.97426	2.692000	0.91855	0.555000	0.69702	TCT		0.418	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		7	85	0	0	0	1	0	7	85					C	101370146	G	C	101370146	3	2	37	1	0	0	0	0	1	0	0	0	17539	942	33	2	139	2	ZBTB11	3	101370146	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	48673947	101370146	96652284	79	3443										
CBLB	868	broad.mit.edu	37	chr3	105438994	105438994	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aggggtcaatgatgctgcaaCacctggagccttcatctctt	10	11	3	1	rs116474782		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:105438994C>G	ENST00000264122.4	-	10	1625	c.1304G>C	c.(1303-1305)tGt>tCt	p.C435S	CBLB_ENST00000394027.3_Missense_Mutation_p.C457S|CBLB_ENST00000403724.1_Missense_Mutation_p.C435S|CBLB_ENST00000405772.1_Missense_Mutation_p.C435S|CBLB_ENST00000545639.1_3'UTR	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	435					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GATGCTGCAACACCTGGAGCC	0.512			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(1303-1305)tGt>tCt		Cbl proto-oncogene B, E3 ubiquitin protein ligase							116	98	104					3																	105438994		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105438994C>G	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1304G>C	3.37:g.105438994C>G	ENSP00000264122:p.Cys435Ser		Somatic				CBLB_ENST00000394027.3_Missense_Mutation_p.C457S|CBLB_ENST00000403724.1_Missense_Mutation_p.C435S|CBLB_ENST00000405772.1_Missense_Mutation_p.C435S|CBLB_ENST00000545639.1_3'UTR	p.C435S	NM_170662.3	NP_733762.2	WXS	Illumina GAIIx	Phase_I	Q13191	CBLB_HUMAN			10	1625	-			435					A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.1304G>C	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343583	0.82022	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.83506	-1.72;-1.71;-1.72;-1.73	6.03	6.03	0.97812	.	0.168326	0.64402	D	0.000006	D	0.88503	0.6454	L	0.45581	1.43	0.80722	D	1	D;D;B	0.62365	0.985;0.991;0.063	P;P;B	0.61874	0.787;0.895;0.119	D	0.88389	0.3007	10	0.87932	D	0	-11.5667	20.5753	0.99366	0.0:1.0:0.0:0.0	.	457;435;435	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	S	435;457;435;435	ENSP00000264122:C435S;ENSP00000377595:C457S;ENSP00000384816:C435S;ENSP00000384938:C435S	ENSP00000264122:C435S	C	-	2	0	CBLB	106921684	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.625000	0.54238	2.868000	0.98415	0.557000	0.71058	TGT		0.512	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		5	30	0	0	0	1	0	5	30					G	105438994	C	G	105438994	3	3	37	1	0	0	0	0	1	0	0	0	2703	478	17	5	1684	5	CBLB	3	105438994	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	4068848	105438994	92583436	80	3444										
ZNF80	7634	broad.mit.edu	37	chr3	113955901	113955901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	agaccatcacctgtccccaaCccatcgcgtttagggctcat	7	16	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:113955901C>T	ENST00000482457.2	-	1	524	c.21G>A	c.(19-21)ggG>ggA	p.G7G	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	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)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CTGTCCCCAACCCATCGCGTT	0.527																																					GBM(23;986 1114 21716)	ENST00000482457.2																			0				NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32						c.(19-21)ggG>ggA		zinc finger protein 80							101	102	101					3																	113955901		2203	4300	6503	SO:0001819	synonymous_variant	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955901C>T	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"Zinc fingers, C2H2-type"	13155	protein-coding gene	gene with protein product		194553	"zinc finger protein 80 (pT17)"			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.21G>A	3.37:g.113955901C>T			Somatic					p.G7G	NM_007136.3	NP_009067.2	WXS	Illumina GAIIx	Phase_I	P51504	ZNF80_HUMAN			1	524	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	7					Q6NSW4|Q6NT14	Silent	SNP	ENST00000482457.2	37	c.21G>A	CCDS2979.1																																																																																				0.527	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		9	94	0	0	0	1	0	9	94					T	113955901	C	T	113955901	2	4	37	1	0	0	0	0	0	0	0	1	18183	494	18	3		3	ZNF80	3	113955901	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	8516907	113955901	84066529	81	3445										
STXBP5L	9515	broad.mit.edu	37	chr3	121126326	121126326	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aagtcttctcactgccttctCagacttgcctttatgttcat	5	12	4	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:121126326C>G	ENST00000273666.6	+	24	3167	c.2896C>G	c.(2896-2898)Cag>Gag	p.Q966E	STXBP5L_ENST00000472879.1_Missense_Mutation_p.Q942E|STXBP5L_ENST00000497029.1_Missense_Mutation_p.Q940E|STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q942E|STXBP5L_ENST00000492541.1_Missense_Mutation_p.Q966E	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	966					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACTGCCTTCTCAGACTTGCCT	0.418																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2896-2898)Cag>Gag		syntaxin binding protein 5-like							147	139	142					3																	121126326		1941	4141	6082	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121126326C>G	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.2896C>G	3.37:g.121126326C>G	ENSP00000273666:p.Gln966Glu		Somatic				STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q942E|STXBP5L_ENST00000472879.1_Missense_Mutation_p.Q942E|STXBP5L_ENST00000497029.1_Missense_Mutation_p.Q940E|STXBP5L_ENST00000492541.1_Missense_Mutation_p.Q966E	p.Q966E	NM_014980.2	NP_055795.1	WXS	Illumina GAIIx	Phase_I	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	24	3167	+			966					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2896C>G	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621640	0.87460	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93	5.33	5.33	0.75918	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58609	0.2134	M	0.88105	2.93	0.80722	D	1	D;D	0.60575	0.988;0.988	D;D	0.76071	0.987;0.987	T	0.59408	-0.7460	10	0.30854	T	0.27	-8.1614	19.3769	0.94514	0.0:1.0:0.0:0.0	.	942;966	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	E	966;942;942;940;966;909	ENSP00000273666:Q966E;ENSP00000420019:Q942E;ENSP00000419627:Q942E;ENSP00000420287:Q940E;ENSP00000420666:Q966E;ENSP00000420167:Q909E	ENSP00000273666:Q966E	Q	+	1	0	STXBP5L	122609016	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.744000	0.68664	2.660000	0.90430	0.650000	0.86243	CAG		0.418	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			12	71	0	0	0	1	0	12	71					G	121126326	C	G	121126326	3	3	37	1	0	0	0	0	1	0	0	0	15372	827	29	2	2986	2	STXBP5L	3	121126326	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	7170425	121126326	76896104	82	3446										
GOLGB1	2804	broad.mit.edu	37	chr3	121414560	121414560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttgccactcagtactttctgCaatcttagaagatttcaaag	6	9	4	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:121414560C>T	ENST00000340645.5	-	13	4920	c.4795G>A	c.(4795-4797)Gca>Aca	p.A1599T	GOLGB1_ENST00000393667.3_Missense_Mutation_p.A1604T	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1599					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)		GTACTTTCTGCAATCTTAGAA	0.378																																						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.(4810-4812)Gca>Aca		golgin B1							97	101	99					3																	121414560		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121414560C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4795G>A	3.37:g.121414560C>T	ENSP00000341848:p.Ala1599Thr		Somatic				GOLGB1_ENST00000340645.5_Missense_Mutation_p.A1599T	p.A1604T	NM_001256486.1	NP_001243415.1	WXS	Illumina GAIIx	Phase_I	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	4920	-			1599					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.4810G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932347	0.34096	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.23950	2.44;2.43;1.88	5.55	5.55	0.83447	.	0.104097	0.42548	D	0.000696	T	0.42154	0.1190	L	0.55103	1.725	0.34320	D	0.686416	P;D;D;D;P	0.89917	0.946;0.977;1.0;0.977;0.669	P;P;D;P;B	0.87578	0.636;0.787;0.998;0.787;0.19	T	0.43130	-0.9410	10	0.14656	T	0.56	.	12.6999	0.57026	0.0:0.8343:0.1657:0.0	.	1524;1563;1604;1604;1599	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	T	1599;1604;1563	ENSP00000341848:A1599T;ENSP00000377275:A1604T;ENSP00000418231:A1563T	ENSP00000341848:A1599T	A	-	1	0	GOLGB1	122897250	0.923000	0.31300	1.000000	0.80357	0.725000	0.41563	1.762000	0.38451	2.590000	0.87494	0.655000	0.94253	GCA		0.378	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		18	57	0	0	0	1	0	18	57					T	121414560	C	T	121414560	3	4	37	1	0	0	0	0	1	0	0	0	6573	710	25	3	5024	3	GOLGB1	3	121414560	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	288234	121414560	76607870	83	3447										
TMCC1	23023	broad.mit.edu	37	chr3	129547175	129547175	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctgcatcttgggatttgcctCcaggatcagggtcctcaaat	10	11	3	0	rs114855835		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:129547175C>G	ENST00000393238.3	-	3	387	c.47G>C	c.(46-48)gGa>gCa	p.G16A	TMCC1_ENST00000426664.2_Intron	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	16						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGATTTGCCTCCAGGATCAGG	0.403																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(46-48)gGa>gCa		transmembrane and coiled-coil domain family 1							75	78	77					3																	129547175		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129547175C>G	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.47G>C	3.37:g.129547175C>G	ENSP00000376930:p.Gly16Ala		Somatic				TMCC1_ENST00000426664.2_Intron	p.G16A	NM_001017395.3	NP_001017395.2	WXS	Illumina GAIIx	Phase_I	O94876	TMCC1_HUMAN			3	387	-			16					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.47G>C	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762543	0.69763	.	.	ENSG00000172765	ENST00000393238	T	0.36157	1.27	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000003	T	0.38665	0.1049	L	0.50333	1.59	0.80722	D	1	B	0.17667	0.023	B	0.20577	0.03	T	0.22591	-1.0212	10	0.59425	D	0.04	-14.806	19.0563	0.93067	0.0:1.0:0.0:0.0	.	16	O94876	TMCC1_HUMAN	A	16	ENSP00000376930:G16A	ENSP00000376930:G16A	G	-	2	0	TMCC1	131029865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.545000	0.60698	2.583000	0.87209	0.485000	0.47835	GGA		0.403	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		7	65	0	0	0	1	0	7	65					G	129547175	C	G	129547175	3	3	37	1	0	0	0	0	1	0	0	0	16007	855	30	2	1930	2	TMCC1	3	129547175	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	8132615	129547175	68475255	84	3448										
BFSP2	8419	broad.mit.edu	37	chr3	133185774	133185774	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cgtgccaagtccagagcctcCaggctgagacagaatcctta	10	13	0	3	rs140878916		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:133185774C>A	ENST00000302334.2	+	5	1083	c.994C>A	c.(994-996)Cag>Aag	p.Q332K	BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	332	Rod.				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						CCAGAGCCTCCAGGCTGAGAC	0.537																																						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.(994-996)Cag>Aag		beaded filament structural protein 2, phakinin							75	72	73					3																	133185774		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.chr3:133185774C>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.994C>A	3.37:g.133185774C>A	ENSP00000304987:p.Gln332Lys		Somatic				BFSP2_ENST00000511434.1_3'UTR	p.Q332K	NM_003571.2	NP_003562.1	WXS	Illumina GAIIx	Phase_I	Q13515	BFSP2_HUMAN			5	1083	+			332			Rod.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.994C>A	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210623	0.95069	.	.	ENSG00000170819	ENST00000302334	D	0.88431	-2.38	5.92	5.92	0.95590	Filament (1);	0.102139	0.43747	D	0.000535	D	0.93831	0.8027	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.93664	0.6984	10	0.87932	D	0	-21.2198	20.3207	0.98668	0.0:1.0:0.0:0.0	.	332	Q13515	BFSP2_HUMAN	K	332	ENSP00000304987:Q332K	ENSP00000304987:Q332K	Q	+	1	0	BFSP2	134668464	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.621000	0.67743	2.813000	0.96785	0.561000	0.74099	CAG		0.537	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			6	68	1	0	2.0095e-06	1	2.12168e-06	6	68					A	133185774	C	A	133185774	3	1	37	1	0	0	0	0	1	0	0	0	1416	595	21	5	1012	5	BFSP2	3	133185774	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	3638599	133185774	64836656	85	3449										
CP	1356	broad.mit.edu	37	chr3	148899820	148899820	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gttggagtaactgtagaactCtctgtttgtaccccatgggc	11	9	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:148899820C>G	ENST00000264613.6	-	14	2788	c.2526G>C	c.(2524-2526)gaG>gaC	p.E842D		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	842	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)	CTGTAGAACTCTCTGTTTGTA	0.468																																						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.(2524-2526)gaG>gaC		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						156	150	152					3																	148899820		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148899820C>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.2526G>C	3.37:g.148899820C>G	ENSP00000264613:p.Glu842Asp		Somatic					p.E842D	NM_000096.3	NP_000087.1	WXS	Illumina GAIIx	Phase_I	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		14	2788	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	842			F5/8 type A 3.|Plastocyanin-like 5.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.2526G>C	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240955	0.22711	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.99474	-5.97;-5.97	6.17	-5.51	0.02568	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.934915	0.09121	N	0.845734	D	0.95211	0.8447	N	0.10760	0.04	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	D	0.93768	0.7072	10	0.10377	T	0.69	-3.3789	7.7476	0.28877	0.0893:0.1357:0.5759:0.1991	.	842;842;842	A8K5A4;P00450;Q1L857	.;CERU_HUMAN;.	D	842;625	ENSP00000264613:E842D;ENSP00000420545:E625D	ENSP00000264613:E842D	E	-	3	2	CP	150382510	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-1.636000	0.02016	-0.607000	0.05738	-0.175000	0.13238	GAG		0.468	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		11	88	0	0	0	1	0	11	88					G	148899820	C	G	148899820	3	3	37	1	0	0	0	0	1	0	0	0	3789	912	32	2	695	2	CP	3	148899820	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	15714046	148899820	49122610	86	3450										
MED12L	116931	broad.mit.edu	37	chr3	151095894	151095894	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tgctgaaagccgctggggaaGagctggagaagggacagcac	17	8	0	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:151095894G>C	ENST00000474524.1	+	29	4344	c.4306G>C	c.(4306-4308)Gag>Cag	p.E1436Q	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.E1296Q	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1436						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGCTGGGGAAGAGCTGGAGAA	0.537																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(4306-4308)Gag>Cag		mediator complex subunit 12-like							75	70	72					3																	151095894		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151095894G>C	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4306G>C	3.37:g.151095894G>C	ENSP00000417235:p.Glu1436Gln		Somatic				MED12L_ENST00000273432.4_Missense_Mutation_p.E1296Q|P2RY12_ENST00000302632.3_Intron	p.E1436Q	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)		29	4344	+			1436					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.4306G>C	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958620	0.92726	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.29142	1.58;1.58	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	L	0.51422	1.61	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.993	D;D;D	0.75484	0.947;0.986;0.979	T	0.52586	-0.8556	10	0.87932	D	0	-29.4479	18.9274	0.92550	0.0:0.0:1.0:0.0	.	1296;1435;1436	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	Q	1436;1296	ENSP00000417235:E1436Q;ENSP00000273432:E1296Q	ENSP00000273432:E1296Q	E	+	1	0	MED12L	152578584	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.044000	0.93805	2.571000	0.86741	0.655000	0.94253	GAG		0.537	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		6	58	0	0	0	1	0	6	58					C	151095894	G	C	151095894	3	2	37	1	0	0	0	0	1	0	0	0	9438	943	33	2	4420	2	MED12L	3	151095894	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	2196074	151095894	46926536	87	3451										
ZMAT3	64393	broad.mit.edu	37	chr3	178785380	178785380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	agtcttgctcccctcccttcGataactcttcttcccctgca	4	18	3	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:178785380G>A	ENST00000311417.2	-	2	902	c.161C>T	c.(160-162)tCg>tTg	p.S54L	ZMAT3_ENST00000432729.1_Missense_Mutation_p.S54L	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3											breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			CCCTCCCTTCGATAACTCTTC	0.552																																						ENST00000311417.2																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14						c.(160-162)tCg>tTg		zinc finger, matrin-type 3							123	117	119					3																	178785380		2203	4300	6503	SO:0001583	missense	64393				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	g.chr3:178785380G>A	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"Zinc fingers, matrin-type"	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.161C>T	3.37:g.178785380G>A	ENSP00000311221:p.Ser54Leu		Somatic				ZMAT3_ENST00000432729.1_Missense_Mutation_p.S54L	p.S54L	NM_022470.3	NP_071915.1	WXS	Illumina GAIIx	Phase_I	Q9HA38	ZMAT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		2	902	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		54						Missense_Mutation	SNP	ENST00000311417.2	37	c.161C>T	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	G	8.342	0.828990	0.16749	.	.	ENSG00000172667	ENST00000311417;ENST00000432729;ENST00000414084	T;T;T	0.44083	0.97;0.98;0.93	5.86	5.86	0.93980	.	0.742820	0.13869	N	0.357126	T	0.31827	0.0809	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	0.11792	-1.0573	10	0.23302	T	0.38	-41.0729	20.1931	0.98233	0.0:0.0:1.0:0.0	.	54;54	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	L	54	ENSP00000311221:S54L;ENSP00000396506:S54L;ENSP00000398920:S54L	ENSP00000311221:S54L	S	-	2	0	ZMAT3	180268074	0.877000	0.30153	0.735000	0.30896	0.025000	0.11179	5.064000	0.64338	2.771000	0.95319	0.563000	0.77884	TCG		0.552	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		15	76	0	0	0	1	0	15	76					A	178785380	G	A	178785380	3	1	37	1	0	0	0	0	1	0	0	0	17708	1059	37	1	728	1	ZMAT3	3	178785380	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	27689486	178785380	19237050	88	3452										
RTP2	344892	broad.mit.edu	37	chr3	187416648	187416648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctcctccagcatgctggactCgtccagccgcgccgtgccgc	11	19	0	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:187416648C>T	ENST00000358241.1	-	2	744	c.316G>A	c.(316-318)Gag>Aag	p.E106K		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	106					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		ATGCTGGACTCGTCCAGCCGC	0.652																																						ENST00000358241.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(316-318)Gag>Aag		receptor (chemosensory) transporter protein 2							23	21	22					3																	187416648		2200	4275	6475	SO:0001583	missense	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187416648C>T	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"Receptor transporter proteins"	32486	protein-coding gene	gene with protein product	"receptor transporting protein 2", "zinc finger, 3CxxC-type 2"	609138	"receptor transporter protein 2"			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.316G>A	3.37:g.187416648C>T	ENSP00000350976:p.Glu106Lys		Somatic					p.E106K	NM_001004312.2	NP_001004312.2	WXS	Illumina GAIIx	Phase_I	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	2	744	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		106					Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	c.316G>A	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030836	0.54790	.	.	ENSG00000198471	ENST00000358241	T	0.21191	2.02	4.04	4.04	0.47022	.	0.266144	0.42821	D	0.000652	T	0.25158	0.0611	L	0.27053	0.805	0.34423	D	0.697672	D	0.76494	0.999	D	0.66602	0.945	T	0.02698	-1.1122	10	0.07813	T	0.8	-33.108	11.9954	0.53198	0.0:1.0:0.0:0.0	.	106	Q5QGT7	RTP2_HUMAN	K	106	ENSP00000350976:E106K	ENSP00000350976:E106K	E	-	1	0	RTP2	188899342	0.987000	0.35691	1.000000	0.80357	0.597000	0.36814	2.877000	0.48506	2.552000	0.86080	0.462000	0.41574	GAG		0.652	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		3	29	0	0	0	1	0	3	29					T	187416648	C	T	187416648	3	4	37	1	0	0	0	0	1	0	0	0	13749	893	31	1	365	1	RTP2	3	187416648	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	8631268	187416648	10605782	89	3453										
LRRC15	131578	broad.mit.edu	37	chr3	194080440	194080440	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aggtacagtgtccgtccctaAcctaggctggttgagcagga	13	10	0	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:194080440A>G	ENST00000347624.3	-	2	1418	c.1333T>C	c.(1333-1335)Tta>Cta	p.L445L	LRRC15_ENST00000428839.1_Silent_p.L451L|LRRC15_ENST00000439944.2_Silent_p.L451L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	445	LRRCT.				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)		TCCGTCCCTAACCTAGGCTGG	0.552																																						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.(1333-1335)Tta>Cta		leucine rich repeat containing 15							85	73	77					3																	194080440		2203	4300	6503	SO:0001819	synonymous_variant	131578					integral to membrane		g.chr3:194080440A>G	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.1333T>C	3.37:g.194080440A>G			Somatic				LRRC15_ENST00000428839.1_Silent_p.L451L|LRRC15_ENST00000439944.2_Silent_p.L451L	p.L445L	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	1418	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		445			LRRCT.		Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	c.1333T>C	CCDS3306.1																																																																																				0.552	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			4	38	0	0	0	1	0	4	38					G	194080440	A	G	194080440	2	3	37	1	0	0	0	0	0	0	0	1	8979	40	2	4		4	LRRC15	3	194080440	Silent	SNP	A	TCGA-N9-A4Q7-01A-11D-A28R-08	6663792	194080440	3941990	90	3454										
SPON2	10417	broad.mit.edu	37	chr4	1165191	1165191	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cttcatcagcgcccaggcctCgccgcgctccgcaaagtcgc	10	19	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:1165191C>G	ENST00000290902.5	-	3	636	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	SPON2_ENST00000431380.1_Missense_Mutation_p.E102Q	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	102	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		GCCCAGGCCTCGCCGCGCTCC	0.701																																						ENST00000290902.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(304-306)Gag>Cag		spondin 2, extracellular matrix protein							24	27	26					4																	1165191		2183	4267	6450	SO:0001583	missense	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1165191C>G	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"Mindin", "M-spondin"	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.304G>C	4.37:g.1165191C>G	ENSP00000290902:p.Glu102Gln		Somatic				SPON2_ENST00000431380.1_Missense_Mutation_p.E102Q	p.E102Q	NM_012445.3	NP_036577.1	WXS	Illumina GAIIx	Phase_I	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	3	636	-			102			Spondin.		D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	c.304G>C	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.526710	0.64860	.	.	ENSG00000159674	ENST00000290902;ENST00000431380;ENST00000503765	T;T;T	0.44881	0.91;0.91;0.91	4.5	4.5	0.54988	Spondin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	M	0.63843	1.955	0.80722	D	1	D;D;D	0.71674	0.993;0.997;0.998	P;P;D	0.63793	0.893;0.743;0.918	T	0.56817	-0.7916	10	0.29301	T	0.29	.	16.7743	0.85547	0.0:1.0:0.0:0.0	.	102;102;102	D6RB12;D3DVN9;Q9BUD6	.;.;SPON2_HUMAN	Q	102	ENSP00000290902:E102Q;ENSP00000394832:E102Q;ENSP00000424542:E102Q	ENSP00000290902:E102Q	E	-	1	0	SPON2	1155191	1.000000	0.71417	0.974000	0.42286	0.111000	0.19643	7.011000	0.76359	2.053000	0.61076	0.511000	0.50034	GAG		0.701	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			7	38	0	0	0	1	0	7	38					G	1165191	C	G	1165191	3	3	37	1	0	0	0	0	1	0	0	0	15098	893	31	2	707	2	SPON2	4	1165191	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08		1165191	189989085	91	3455										
MAEA	10296	broad.mit.edu	37	chr4	1332269	1332269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctgccctgtgtgcagccgctCcctgaacaagctggcgcagc	12	16	0	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:1332269C>T	ENST00000303400.4	+	8	1022	c.959C>T	c.(958-960)tCc>tTc	p.S320F	MAEA_ENST00000452175.2_Missense_Mutation_p.S241F|MAEA_ENST00000510794.1_Missense_Mutation_p.S319F|MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000264750.6_Missense_Mutation_p.S279F|MAEA_ENST00000505177.2_Missense_Mutation_p.S358F|MAEA_ENST00000514708.1_Missense_Mutation_p.S252F|MAEA_ENST00000505839.1_Missense_Mutation_p.S272F	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	320					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	TGCAGCCGCTCCCTGAACAAG	0.632																																						ENST00000303400.4																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(958-960)tCc>tTc		macrophage erythroblast attacher							58	56	57					4																	1332269		2203	4300	6503	SO:0001583	missense	10296				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	g.chr4:1332269C>T	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"GID complex subunit 9, FYV10 homolog (S. cerevisiae)"	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.959C>T	4.37:g.1332269C>T	ENSP00000302830:p.Ser320Phe		Somatic				MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000264750.6_Missense_Mutation_p.S279F|MAEA_ENST00000452175.2_Missense_Mutation_p.S241F|MAEA_ENST00000514708.1_Missense_Mutation_p.S252F|MAEA_ENST00000510794.1_Missense_Mutation_p.S319F|MAEA_ENST00000505839.1_Missense_Mutation_p.S272F|MAEA_ENST00000505177.2_Missense_Mutation_p.S358F	p.S320F	NM_001017405.1	NP_001017405.1	WXS	Illumina GAIIx	Phase_I	Q7L5Y9	MAEA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		8	1022	+			320					O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	37	c.959C>T	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685892	0.68157	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000264750;ENST00000382947;ENST00000539495;ENST00000452175;ENST00000514708;ENST00000510794;ENST00000505839	T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	N	0.21448	0.665	0.80722	D	1	B;B;B;D;B;B	0.71674	0.021;0.042;0.009;0.998;0.38;0.017	B;B;B;D;B;B	0.78314	0.013;0.032;0.003;0.991;0.207;0.029	T	0.04976	-1.0914	10	0.25106	T	0.35	-18.2235	18.867	0.92296	0.0:1.0:0.0:0.0	.	319;358;106;252;279;320	B4DVN3;E7ESC7;B3KRN7;D6RIB6;Q7L5Y9-3;Q7L5Y9	.;.;.;.;.;MAEA_HUMAN	F	320;358;279;252;299;241;252;319;272	ENSP00000302830:S320F;ENSP00000422215:S358F;ENSP00000264750:S279F;ENSP00000411415:S241F;ENSP00000427512:S252F;ENSP00000426807:S319F;ENSP00000424436:S272F	ENSP00000264750:S279F	S	+	2	0	MAEA	1322269	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.531000	0.81973	2.443000	0.82685	0.655000	0.94253	TCC		0.632	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		9	43	0	0	0	1	0	9	43					T	1332269	C	T	1332269	3	4	37	1	0	0	0	0	1	0	0	0	9162	855	30	3	989	3	MAEA	4	1332269	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	167078	1332269	189822007	92	3456										
RGS12	6002	broad.mit.edu	37	chr4	3318236	3318236	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	agtgatgaagaagggggactCtatgaaggaaaaggctggct	16	4	1	4			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:3318236C>T	ENST00000344733.5	+	2	1243	c.339C>T	c.(337-339)ctC>ctT	p.L113L	RGS12_ENST00000543385.1_Silent_p.L113L|RGS12_ENST00000336727.3_Silent_p.L113L|RGS12_ENST00000382788.3_Silent_p.L113L	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	113					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAGGGGGACTCTATGAAGGAA	0.488																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(337-339)ctC>ctT		regulator of G-protein signaling 12							64	70	68					4																	3318236		2203	4300	6503	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3318236C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.339C>T	4.37:g.3318236C>T			Somatic				RGS12_ENST00000344733.5_Silent_p.L113L|RGS12_ENST00000543385.1_Silent_p.L113L|RGS12_ENST00000382788.3_Silent_p.L113L	p.L113L	NM_002926.3	NP_002917.1	WXS	Illumina GAIIx	Phase_I	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	1243	+			113					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.339C>T	CCDS3366.1																																																																																				0.488	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		4	71	0	0	0	1	0	4	71					T	3318236	C	T	3318236	2	4	37	1	0	0	0	0	0	0	0	1	13310	900	32	3		3	RGS12	4	3318236	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	1985967	3318236	187836040	93	3457										
RFC1	5981	broad.mit.edu	37	chr4	39304134	39304134	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	atttacctgtctgatatcttGattggctcccaaaattattt	5	8	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:39304134G>A	ENST00000381897.1	-	18	2558	c.2425C>T	c.(2425-2427)Caa>Taa	p.Q809*	RFC1_ENST00000349703.2_Nonsense_Mutation_p.Q808*	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	809					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTGATATCTTGATTGGCTCCC	0.353																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(2425-2427)Caa>Taa		replication factor C (activator 1) 1, 145kDa							57	61	60					4																	39304134		2201	4297	6498	SO:0001587	stop_gained	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39304134G>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2425C>T	4.37:g.39304134G>A	ENSP00000371321:p.Gln809*		Somatic				RFC1_ENST00000349703.2_Nonsense_Mutation_p.Q808*	p.Q809*	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	WXS	Illumina GAIIx	Phase_I	P35251	RFC1_HUMAN			18	2558	-			809					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Nonsense_Mutation	SNP	ENST00000381897.1	37	c.2425C>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	G	41	8.959715	0.99018	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	.	.	.	6.08	6.08	0.98989	.	0.058864	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-18.1476	20.6721	0.99693	0.0:0.0:1.0:0.0	.	.	.	.	X	809;808	.	ENSP00000261424:Q808X	Q	-	1	0	RFC1	38980529	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.991000	0.88244	2.894000	0.99253	0.591000	0.81541	CAA		0.353	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		4	33	0	0	0	1	0	4	33					A	39304134	G	A	39304134	4	1	37	1	0	0	0	0	0	1	0	0	13259	1299	45	3	1053	3	RFC1	4	39304134	Nonsense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	35985898	39304134	151850142	94	3458										
GABRA2	2555	broad.mit.edu	37	chr4	46252592	46252592	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gccactgcataagcgttgttCtgtatcataacggaagcctt	9	10	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:46252592C>T	ENST00000510861.1	-	10	1262	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q	GABRA2_ENST00000356504.1_Silent_p.Q363Q|GABRA2_ENST00000381620.4_Silent_p.Q363Q|GABRA2_ENST00000514090.1_Silent_p.Q363Q|GABRA2_ENST00000507069.1_Silent_p.Q423Q|GABRA2_ENST00000540012.1_Silent_p.Q368Q			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	363					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AAGCGTTGTTCTGTATCATAA	0.408																																						ENST00000510861.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(1087-1089)caG>caA		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						90	91	90					4																	46252592		2203	4299	6502	SO:0001819	synonymous_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46252592C>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1089G>A	4.37:g.46252592C>T			Somatic				GABRA2_ENST00000381620.4_Silent_p.Q363Q|GABRA2_ENST00000540012.1_Silent_p.Q368Q|GABRA2_ENST00000514090.1_Silent_p.Q363Q|GABRA2_ENST00000356504.1_Silent_p.Q363Q|GABRA2_ENST00000507069.1_Silent_p.Q423Q	p.Q363Q			WXS	Illumina GAIIx	Phase_I	P47869	GBRA2_HUMAN			10	1262	-			363					A8K0U7|B7Z1H8|Q59G14	Silent	SNP	ENST00000510861.1	37	c.1089G>A	CCDS3471.1																																																																																				0.408	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			10	83	0	0	0	1	0	10	83					T	46252592	C	T	46252592	2	4	37	1	0	0	0	0	0	0	0	1	6169	912	32	3		3	GABRA2	4	46252592	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	6948458	46252592	144901684	95	3459										
GABRA4	2557	broad.mit.edu	37	chr4	46930400	46930400	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tggtggagccgatggaggagGagtagctgacaacttcccag	16	8	0	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:46930400G>C	ENST00000264318.3	-	9	2489	c.1507C>G	c.(1507-1509)Cct>Gct	p.P503A		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	503					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)	GATGGAGGAGGAGTAGCTGAC	0.463																																					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.(1507-1509)Cct>Gct		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						163	153	157					4																	46930400		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.chr4:46930400G>C		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.1507C>G	4.37:g.46930400G>C	ENSP00000264318:p.Pro503Ala		Somatic					p.P503A	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			9	2489	-			503					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1507C>G	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	6.378	0.437772	0.12104	.	.	ENSG00000109158	ENST00000264318	D	0.85171	-1.95	5.71	-10.4	0.00318	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.470380	0.03665	N	0.243179	T	0.69522	0.3120	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.18871	0.023	T	0.58973	-0.7541	10	0.06099	T	0.92	.	10.2491	0.43358	0.0:0.4538:0.3232:0.223	.	503	P48169	GBRA4_HUMAN	A	503	ENSP00000264318:P503A	ENSP00000264318:P503A	P	-	1	0	GABRA4	46625157	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.010000	0.01454	-2.152000	0.00794	-1.107000	0.02091	CCT		0.463	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			8	114	0	0	0	1	0	8	114					C	46930400	G	C	46930400	3	2	37	1	0	0	0	0	1	0	0	0	6171	1174	41	2	161	2	GABRA4	4	46930400	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	677808	46930400	144223876	96	3460										
C4orf14	84273	broad.mit.edu	37	chr4	57843128	57843128	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gaggggccgggccgccgcaaCgcggcgctcaccagctccag	16	17	1	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:57843128C>T	ENST00000264230.4	-	1	1861	c.624G>A	c.(622-624)gcG>gcA	p.A208A	POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000381227.1_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	208	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)										GCCGCCGCAACGCGGCGCTCA	0.731																																						ENST00000264230.4																			0											c.(622-624)gcG>gcA		nitric oxide associated 1							14	19	17					4																	57843128		2070	4129	6199	SO:0001819	synonymous_variant	84273						GTP binding	g.chr4:57843128C>T	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.624G>A	4.37:g.57843128C>T			Somatic					p.A208A	NM_032313.2	NP_115689.1	WXS	Illumina GAIIx	Phase_I	Q8NC60	CD014_HUMAN			1	1861	-			208					Q8N7L6|Q9BSQ9	Silent	SNP	ENST00000264230.4	37	c.624G>A	CCDS3510.1																																																																																				0.731	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		5	38	0	0	0	1	0	5	38					T	57843128	C	T	57843128	2	4	37	1	0	0	0	0	0	0	0	1	2253	523	19	1		1	C4orf14	4	57843128	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	10912728	57843128	133311148	97	3461										
CCNI	10983	broad.mit.edu	37	chr4	77969711	77969711	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	caggtcaccagggtgtgcttGaggggacggtagacataaac	15	8	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:77969711G>A	ENST00000237654.4	-	7	1371	c.795C>T	c.(793-795)ctC>ctT	p.L265L	CCNI_ENST00000537948.1_Silent_p.L251L	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	265					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						GGGTGTGCTTGAGGGGACGGT	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.(793-795)ctC>ctT		cyclin I							109	100	103					4																	77969711		2203	4300	6503	SO:0001819	synonymous_variant	10983				spermatogenesis			g.chr4:77969711G>A	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.795C>T	4.37:g.77969711G>A			Somatic				CCNI_ENST00000537948.1_Silent_p.L251L	p.L265L	NM_006835.2	NP_006826.1	WXS	Illumina GAIIx	Phase_I	Q14094	CCNI_HUMAN			7	1371	-			265					B2R6M0|B7Z6X4	Silent	SNP	ENST00000237654.4	37	c.795C>T	CCDS3580.1	.	.	.	.	.	.	.	.	.	.	G	6.384	0.438998	0.12104	.	.	ENSG00000118816	ENST00000515468	.	.	.	5.91	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.5787	11.9263	0.52820	0.1381:0.0:0.8619:0.0	.	.	.	.	X	65	.	.	Q	-	1	0	CCNI	78188735	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.190000	0.50973	1.506000	0.48736	0.655000	0.94253	CAA		0.527	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835		11	82	0	0	0	1	0	11	82					A	77969711	G	A	77969711	2	1	37	1	0	0	0	0	0	0	0	1	2928	1277	45	3		3	CCNI	4	77969711	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	20126583	77969711	113184565	98	3462										
WDFY3	23001	broad.mit.edu	37	chr4	85642692	85642692	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	catctcctccatcaggtgcaGatcgggagcgttttagagga	12	10	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:85642692G>C	ENST00000295888.4	-	47	7882	c.7475C>G	c.(7474-7476)tCt>tGt	p.S2492C	WDFY3_ENST00000322366.6_Missense_Mutation_p.S2475C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2492	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)		ATCAGGTGCAGATCGGGAGCG	0.498																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(7423-7425)tCt>tGt		WD repeat and FYVE domain containing 3							120	108	112					4																	85642692		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85642692G>C	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.7475C>G	4.37:g.85642692G>C	ENSP00000295888:p.Ser2492Cys		Somatic				WDFY3_ENST00000295888.4_Missense_Mutation_p.S2492C	p.S2475C			WXS	Illumina GAIIx	Phase_I	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	46	7831	-		Hepatocellular(203;0.114)	2492					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.7424C>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	33	5.273805	0.95459	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.66995	-0.24;-0.22;-0.17	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	P	0.58928	0.848	T	0.77368	-0.2614	10	0.66056	D	0.02	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	2492	Q8IZQ1	WDFY3_HUMAN	C	2475;2492;95	ENSP00000318466:S2475C;ENSP00000295888:S2492C;ENSP00000424987:S95C	ENSP00000295888:S2492C	S	-	2	0	WDFY3	85861716	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.420000	0.97426	2.890000	0.99128	0.585000	0.79938	TCT		0.498	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		10	58	0	0	0	1	0	10	58					C	85642692	G	C	85642692	3	2	37	1	0	0	0	0	1	0	0	0	17285	942	33	2	3193	2	WDFY3	4	85642692	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	7672981	85642692	105511584	99	3463										
PTPN13	5783	broad.mit.edu	37	chr4	87724875	87724875	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctattagatcattcctttctGacaaacgatgagctcgctgt	7	10	2	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:87724875G>C	ENST00000411767.2	+	43	6582	c.6519G>C	c.(6517-6519)ctG>ctC	p.L2173L	PTPN13_ENST00000436978.1_Silent_p.L2178L|PTPN13_ENST00000316707.6_Silent_p.L1982L|PTPN13_ENST00000511467.1_Silent_p.L2178L|PTPN13_ENST00000427191.2_Silent_p.L2154L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2173					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATTCCTTTCTGACAAACGATG	0.423																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6532-6534)ctG>ctC		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							160	150	153					4																	87724875		1899	4113	6012	SO:0001819	synonymous_variant	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87724875G>C		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6519G>C	4.37:g.87724875G>C			Somatic				PTPN13_ENST00000316707.6_Silent_p.L1982L|PTPN13_ENST00000427191.2_Silent_p.L2154L|PTPN13_ENST00000411767.2_Silent_p.L2173L|PTPN13_ENST00000511467.1_Silent_p.L2178L	p.L2178L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	WXS	Illumina GAIIx	Phase_I	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	43	7014	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	2173					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	c.6534G>C	CCDS47094.1																																																																																				0.423	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			8	82	0	0	0	1	0	8	82					C	87724875	G	C	87724875	2	2	37	1	0	0	0	0	0	0	0	1	12795	1277	45	2		2	PTPN13	4	87724875	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	2082183	87724875	103429401	100	3464										
QRFPR	84109	broad.mit.edu	37	chr4	122250697	122250697	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ccatgcctttgtgctggagaGaaggttttatttactatgca	10	7	0	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:122250697G>C	ENST00000394427.2	-	6	1479	c.1068C>G	c.(1066-1068)ttC>ttG	p.F356L	QRFPR_ENST00000334383.5_3'UTR|Y_RNA_ENST00000384419.1_RNA	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	356					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GTGCTGGAGAGAAGGTTTTAT	0.373																																						ENST00000394427.2																			0				endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						c.(1066-1068)ttC>ttG		pyroglutamylated RFamide peptide receptor							127	125	126					4																	122250697		2203	4300	6503	SO:0001583	missense	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122250697G>C	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"GPCR / Class A : RF amide peptide receptors"	15565	protein-coding gene	gene with protein product		606925	"G protein-coupled receptor 103"	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.1068C>G	4.37:g.122250697G>C	ENSP00000377948:p.Phe356Leu		Somatic				QRFPR_ENST00000334383.5_3'UTR	p.F356L	NM_198179.2	NP_937822.2	WXS	Illumina GAIIx	Phase_I	Q96P65	QRFPR_HUMAN			6	1479	-			356						Missense_Mutation	SNP	ENST00000394427.2	37	c.1068C>G	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	G	8.886	0.952819	0.18431	.	.	ENSG00000186867	ENST00000394427	T	0.36520	1.25	5.32	-10.6	0.00265	.	1.305430	0.04920	N	0.454769	T	0.11665	0.0284	N	0.02539	-0.55	0.23739	N	0.996971	B	0.02656	0.0	B	0.01281	0.0	T	0.28933	-1.0028	10	0.08599	T	0.76	.	11.9676	0.53044	0.0:0.3082:0.5367:0.155	.	356	Q96P65	QRFPR_HUMAN	L	356	ENSP00000377948:F356L	ENSP00000377948:F356L	F	-	3	2	QRFPR	122470147	0.000000	0.05858	0.018000	0.16275	0.379000	0.30106	-0.899000	0.04101	-2.070000	0.00881	-0.479000	0.04858	TTC		0.373	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		8	69	0	0	0	1	0	8	69					C	122250697	G	C	122250697	3	2	37	1	0	0	0	0	1	0	0	0	12893	933	33	2	231	2	QRFPR	4	122250697	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	34525822	122250697	68903579	101	3465										
TMEM155	132332	broad.mit.edu	37	chr4	122682819	122682819	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tattctgtagaatcgcaccaGatggcatcagttctgcatct	8	10	4	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:122682819G>C	ENST00000337677.5	-	5	644	c.86C>G	c.(85-87)tCt>tGt	p.S29C	TMEM155_ENST00000394396.1_Missense_Mutation_p.S29C|AC079341.1_ENST00000424958.1_5'Flank|TMEM155_ENST00000394394.1_Missense_Mutation_p.S29C	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	29						extracellular region (GO:0005576)				breast(1)|lung(5)	6						AATCGCACCAGATGGCATCAG	0.423																																						ENST00000337677.5																			0				breast(1)|lung(5)	6						c.(85-87)tCt>tGt		transmembrane protein 155							73	73	73					4																	122682819		2203	4300	6503	SO:0001583	missense	132332					extracellular region		g.chr4:122682819G>C	AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.86C>G	4.37:g.122682819G>C	ENSP00000336987:p.Ser29Cys		Somatic				TMEM155_ENST00000394396.1_Missense_Mutation_p.S29C|TMEM155_ENST00000394394.1_Missense_Mutation_p.S29C	p.S29C	NM_152399.2	NP_689612.2	WXS	Illumina GAIIx	Phase_I	Q4W5P6	TM155_HUMAN			5	644	-			29					D3DNW9|Q96NI2	Missense_Mutation	SNP	ENST00000337677.5	37	c.86C>G	CCDS3721.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239619	0.58995	.	.	ENSG00000164112	ENST00000394396;ENST00000337677;ENST00000394394;ENST00000514885	T;T;T;T	0.57436	0.52;0.52;0.52;0.4	5.23	5.23	0.72850	.	0.177023	0.27673	N	0.018328	T	0.59582	0.2204	N	0.24115	0.695	0.27176	N	0.960783	D	0.89917	1.0	D	0.79108	0.992	T	0.56275	-0.8006	10	0.87932	D	0	-5.7072	15.0198	0.71621	0.0:0.0:1.0:0.0	.	29	Q4W5P6	TM155_HUMAN	C	29	ENSP00000377919:S29C;ENSP00000336987:S29C;ENSP00000377917:S29C;ENSP00000422869:S29C	ENSP00000336987:S29C	S	-	2	0	TMEM155	122902269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.200000	0.58433	2.824000	0.97209	0.655000	0.94253	TCT		0.423	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256637.2	NM_152399		9	32	0	0	0	1	0	9	32					C	122682819	G	C	122682819	3	2	37	1	0	0	0	0	1	0	0	0	16087	942	33	2	314	2	TMEM155	4	122682819	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	432122	122682819	68471457	102	3466										
HSPA4L	22824	broad.mit.edu	37	chr4	128741618	128741618	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aaacaagaccgattaaatcaGacacttaaaaaaggaaaagt	6	6	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:128741618G>C	ENST00000296464.4	+	14	2121	c.1710G>C	c.(1708-1710)caG>caC	p.Q570H	HSPA4L_ENST00000508776.1_Missense_Mutation_p.Q570H|HSPA4L_ENST00000505726.1_Missense_Mutation_p.Q544H|HSPA4L_ENST00000439123.2_Missense_Mutation_p.Q601H|HSPA4L_ENST00000515262.1_3'UTR	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	570					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GATTAAATCAGACACTTAAAA	0.338																																						ENST00000296464.3																			0				central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(1708-1710)caG>caC		heat shock 70kDa protein 4-like							62	59	60					4																	128741618		2203	4300	6503	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128741618G>C	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"Heat shock proteins / HSP70"	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1710G>C	4.37:g.128741618G>C	ENSP00000296464:p.Gln570His		Somatic				HSPA4L_ENST00000439123.2_Missense_Mutation_p.Q601H|HSPA4L_ENST00000508776.1_Missense_Mutation_p.Q570H|HSPA4L_ENST00000515262.1_3'UTR|HSPA4L_ENST00000505726.1_Missense_Mutation_p.Q544H	p.Q570H	NM_014278.2	NP_055093.2	WXS	Illumina GAIIx	Phase_I	O95757	HS74L_HUMAN			14	2121	+			570					A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.1710G>C	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111611	0.37242	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01059	5.39;5.39;5.39;5.39;5.39	4.45	1.18	0.20946	.	0.297106	0.33346	N	0.005011	T	0.01523	0.0049	N	0.14661	0.345	0.29394	N	0.862394	P;P;P	0.52577	0.913;0.954;0.954	P;P;P	0.56343	0.796;0.579;0.579	T	0.49194	-0.8965	10	0.51188	T	0.08	.	7.1673	0.25698	0.4361:0.0:0.5639:0.0	.	544;570;570	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	H	570;601;570;529;544	ENSP00000422482:Q570H;ENSP00000393926:Q601H;ENSP00000296464:Q570H;ENSP00000427305:Q529H;ENSP00000425645:Q544H	ENSP00000296464:Q570H	Q	+	3	2	HSPA4L	128961068	0.742000	0.28228	0.776000	0.31678	0.744000	0.42396	0.939000	0.28978	0.008000	0.14787	0.650000	0.86243	CAG		0.338	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		6	21	0	0	0	1	0	6	21					C	128741618	G	C	128741618	3	2	37	1	0	0	0	0	1	0	0	0	7422	933	33	2	1764	2	HSPA4L	4	128741618	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	6058799	128741618	62412658	103	3467										
TBC1D9	23158	broad.mit.edu	37	chr4	141600123	141600123	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gagcagacacttttttaggaGatttccttttgagtttgggc	11	6	0	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:141600123G>A	ENST00000442267.2	-	5	898	c.824C>T	c.(823-825)tCt>tTt	p.S275F		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	275							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTTTTTAGGAGATTTCCTTTT	0.403																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(823-825)tCt>tTt		TBC1 domain family, member 9 (with GRAM domain)							286	271	276					4																	141600123		1875	4112	5987	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141600123G>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.824C>T	4.37:g.141600123G>A	ENSP00000411197:p.Ser275Phe		Somatic					p.S275F	NM_015130.2	NP_055945.2	WXS	Illumina GAIIx	Phase_I	Q6ZT07	TBCD9_HUMAN			5	898	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	275					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.824C>T	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032397	0.75504	.	.	ENSG00000109436	ENST00000442267	T	0.09538	2.97	5.45	4.61	0.57282	.	0.055311	0.85682	N	0.000000	T	0.17874	0.0429	L	0.40543	1.245	0.80722	D	1	D	0.56287	0.975	P	0.53146	0.719	T	0.00710	-1.1599	10	0.59425	D	0.04	-5.5366	14.1556	0.65415	0.072:0.0:0.928:0.0	.	275	Q6ZT07	TBCD9_HUMAN	F	275	ENSP00000411197:S275F	ENSP00000411197:S275F	S	-	2	0	TBC1D9	141819573	1.000000	0.71417	0.593000	0.28771	0.921000	0.55340	9.420000	0.97426	1.323000	0.45263	0.555000	0.69702	TCT		0.403	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		13	118	0	0	0	1	0	13	118					A	141600123	G	A	141600123	3	1	37	1	0	0	0	0	1	0	0	0	15642	942	33	3	3044	3	TBC1D9	4	141600123	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	12858505	141600123	49554153	104	3468										
SMARCA5	8467	broad.mit.edu	37	chr4	144445612	144445612	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttgcactcgatttgaagactCtccatcgtgtatgttaaaca	7	9	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:144445612C>G	ENST00000283131.3	+	4	974	c.512C>G	c.(511-513)tCt>tGt	p.S171C		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	171					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)					TTTGAAGACTCTCCATCGTGT	0.378																																						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.(511-513)tCt>tGt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							102	100	100					4																	144445612		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.chr4:144445612C>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.512C>G	4.37:g.144445612C>G	ENSP00000283131:p.Ser171Cys		Somatic					p.S171C	NM_003601.3	NP_003592.3	WXS	Illumina GAIIx	Phase_I	O60264	SMCA5_HUMAN			4	974	+	all_hematologic(180;0.158)		171						Missense_Mutation	SNP	ENST00000283131.3	37	c.512C>G	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172336	0.78452	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.93712	-3.27	5.55	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.96920	0.8994	M	0.89785	3.06	0.58432	D	0.999998	D	0.76494	0.999	D	0.66847	0.947	D	0.97499	1.0059	10	0.87932	D	0	-2.5563	14.1626	0.65457	0.0:0.9278:0.0:0.0722	.	171	O60264	SMCA5_HUMAN	C	171;114;114	ENSP00000283131:S171C	ENSP00000283131:S171C	S	+	2	0	SMARCA5	144665062	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.617000	0.61204	1.337000	0.45525	0.591000	0.81541	TCT		0.378	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			5	41	0	0	0	1	0	5	41					G	144445612	C	G	144445612	3	3	37	1	0	0	0	0	1	0	0	0	14786	913	32	2	526	2	SMARCA5	4	144445612	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	2845489	144445612	46708664	105	3469										
HHIP	64399	broad.mit.edu	37	chr4	145567979	145567979	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cccgaagcgcctgaaaaggaGagacaggaggatgatgtccc	14	10	0	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:145567979G>C	ENST00000296575.3	+	1	807	c.152G>C	c.(151-153)aGa>aCa	p.R51T	HHIP-AS1_ENST00000503066.1_RNA|HHIP-AS1_ENST00000508269.1_RNA|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.R51T	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	51	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)			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)		CTGAAAAGGAGAGACAGGAGG	0.582																																						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.(151-153)aGa>aCa		hedgehog interacting protein							73	80	77					4																	145567979		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145567979G>C	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.152G>C	4.37:g.145567979G>C	ENSP00000296575:p.Arg51Thr		Somatic				HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.R51T	p.R51T	NM_022475.2	NP_071920.1	WXS	Illumina GAIIx	Phase_I	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	1	807	+	all_hematologic(180;0.151)		51			Arg-rich.		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.152G>C	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576663	0.45902	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.76968	-1.06;-1.06	5.11	4.26	0.50523	Folate receptor-like (1);	0.048133	0.85682	D	0.000000	T	0.76884	0.4050	M	0.62723	1.935	0.45118	D	0.998132	P;P	0.41848	0.458;0.763	B;B	0.42282	0.328;0.382	T	0.78465	-0.2193	10	0.59425	D	0.04	-15.7277	13.6156	0.62105	0.0749:0.0:0.9251:0.0	.	51;51	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	T	51	ENSP00000296575:R51T;ENSP00000408587:R51T	ENSP00000296575:R51T	R	+	2	0	HHIP	145787429	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.829000	0.62737	1.150000	0.42419	0.650000	0.86243	AGA		0.582	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			6	43	0	0	0	1	0	6	43					C	145567979	G	C	145567979	3	2	37	1	0	0	0	0	1	0	0	0	7101	942	33	2	154	2	HHIP	4	145567979	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	1122367	145567979	45586297	106	3470										
FBXW7	55294	broad.mit.edu	37	chr4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttcatgaagatgcatacaacGcacagtggaagtatgcccat	9	9	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		99	Substitution - Missense(98)|Unknown(1)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(41)|large_intestine(27)|endometrium(20)|stomach(6)|biliary_tract(4)|pancreas(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1393-1395)Cgt>Tgt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							260	223	235					4																	153249385		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249385G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1393C>T	4.37:g.153249385G>A	ENSP00000281708:p.Arg465Cys		Somatic				FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C	p.R465C	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			9	2622	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	465		R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1393C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909959	0.92107	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.05	6.05	0.98169	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	0.67287	0.2877	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.67130	-0.5748	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:0.0:1.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	465;347;385;289	ENSP00000281708:R465C;ENSP00000296555:R347C;ENSP00000263981:R385C;ENSP00000377528:R289C	ENSP00000263981:R385C	R	-	1	0	FBXW7	153468835	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CGT		0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			51	72	0	0	0	1	0	51	72					A	153249385	G	A	153249385	3	1	37	1	0	0	0	0	1	0	0	0	5777	1087	38	1	746	1	FBXW7	4	153249385	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	7681406	153249385	37904891	107	3471										
TLR2	7097	broad.mit.edu	37	chr4	154626043	154626043	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tggagaaccttatggtccagGagctggagaacttcaatccc	11	10	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:154626043G>C	ENST00000260010.6	+	1	3392	c.1984G>C	c.(1984-1986)Gag>Cag	p.E662Q		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	662	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TATGGTCCAGGAGCTGGAGAA	0.473																																						ENST00000260010.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(1984-1986)Gag>Cag		toll-like receptor 2							54	53	53					4																	154626043		2203	4300	6503	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154626043G>C	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1984G>C	4.37:g.154626043G>C	ENSP00000260010:p.Glu662Gln		Somatic					p.E662Q	NM_003264.3	NP_003255.2	WXS	Illumina GAIIx	Phase_I	O60603	TLR2_HUMAN			1	3392	+	all_hematologic(180;0.093)	Renal(120;0.117)	662			TIR.		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.1984G>C	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	G	8.898	0.955560	0.18507	.	.	ENSG00000137462	ENST00000260010	T	0.09817	2.94	5.5	3.74	0.42951	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.247461	0.39210	N	0.001439	T	0.06554	0.0168	N	0.21240	0.645	0.37548	D	0.918595	B	0.19706	0.038	B	0.17433	0.018	T	0.34700	-0.9818	10	0.17832	T	0.49	.	7.2898	0.26360	0.1436:0.2715:0.5848:0.0	.	662	O60603	TLR2_HUMAN	Q	662	ENSP00000260010:E662Q	ENSP00000260010:E662Q	E	+	1	0	TLR2	154845493	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.764000	0.47613	0.662000	0.31006	0.655000	0.94253	GAG		0.473	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			10	60	0	0	0	1	0	10	60					C	154626043	G	C	154626043	3	2	37	1	0	0	0	0	1	0	0	0	15966	1175	41	2	1986	2	TLR2	4	154626043	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	1376658	154626043	36528233	108	3472										
AGA	175	broad.mit.edu	37	chr4	178360736	178360736	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	agttaaaaaaatacctgactCtcctactaaaagtgtgtgtg	7	7	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:178360736C>G	ENST00000264595.2	-	3	515	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	130					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)		ATACCTGACTCTCCTACTAAA	0.343																																						ENST00000264595.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16						c.(388-390)Gag>Cag		aspartylglucosaminidase							155	150	152					4																	178360736		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.chr4:178360736C>G	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.388G>C	4.37:g.178360736C>G	ENSP00000264595:p.Glu130Gln		Somatic				AGA_ENST00000506853.1_5'UTR	p.E130Q	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	515	-		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)	130					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	c.388G>C	CCDS3829.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.071722|4.071722	0.76301|0.76301	.|.	.|.	ENSG00000038002|ENSG00000038002	ENST00000510635|ENST00000264595;ENST00000502310	.|D;D	.|0.89270	.|-2.49;-2.33	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.090648|0.090648	0.85682|0.85682	N|D	0.000000|0.000000	D|D	0.91109|0.91109	0.7201|0.7201	M|M	0.68728|0.68728	2.09|2.09	0.80722|0.80722	D|D	1|1	.|B	.|0.28713	.|0.22	.|B	.|0.40199	.|0.322	D|D	0.88950|0.88950	0.3386|0.3386	6|10	.|0.49607	.|T	.|0.09	-25.8187|-25.8187	19.4063|19.4063	0.94648|0.94648	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|130	.|P20933	.|ASPG_HUMAN	D|Q	28|130;15	.|ENSP00000264595:E130Q;ENSP00000423798:E15Q	.|ENSP00000264595:E130Q	E|E	-|-	3|1	2|0	AGA|AGA	178597730|178597730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	7.052000|7.052000	0.76634|0.76634	2.690000|2.690000	0.91761|0.91761	0.655000|0.655000	0.94253|0.94253	GAG|GAG		0.343	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		14	70	0	0	0	1	0	14	70					G	178360736	C	G	178360736	3	3	37	1	0	0	0	0	1	0	0	0	365	922	32	2	680	2	AGA	4	178360736	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	23734693	178360736	12793540	109	3473										
ADAMTS16	170690	broad.mit.edu	37	chr5	5306709	5306709	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tatcgagagctggcctcaaaGaagtgctcacatttgccgaa	10	10	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:5306709G>A	ENST00000274181.7	+	21	3417	c.3279G>A	c.(3277-3279)aaG>aaA	p.K1093K		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1093	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGCCTCAAAGAAGTGCTCAC	0.522																																						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.(3277-3279)aaG>aaA		ADAM metallopeptidase with thrombospondin type 1 motif, 16							69	70	70					5																	5306709		1934	4132	6066	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5306709G>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.3279G>A	5.37:g.5306709G>A			Somatic					p.K1093K	NM_139056.2	NP_620687.2	WXS	Illumina GAIIx	Phase_I	Q8TE57	ATS16_HUMAN			21	3417	+			1093			TSP type-1 5.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.3279G>A	CCDS43299.1																																																																																				0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		8	52	0	0	0	1	0	8	52					A	5306709	G	A	5306709	2	1	37	1	0	0	0	0	0	0	0	1	261	933	33	3		3	ADAMTS16	5	5306709	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08		5306709	175608551	110	3474										
ADCY2	108	broad.mit.edu	37	chr5	7695897	7695897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tgacatcgttggctttacccGgctggcaagtgactgctccc	11	13	0	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:7695897G>A	ENST00000338316.4	+	6	991	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	ADCY2_ENST00000537121.1_Missense_Mutation_p.R121Q	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	301					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						GGCTTTACCCGGCTGGCAAGT	0.413																																						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.(901-903)cGg>cAg		adenylate cyclase 2 (brain)							94	86	89					5																	7695897		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.chr5:7695897G>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.902G>A	5.37:g.7695897G>A	ENSP00000342952:p.Arg301Gln		Somatic				ADCY2_ENST00000537121.1_Missense_Mutation_p.R121Q	p.R301Q	NM_020546.2	NP_065433.2	WXS	Illumina GAIIx	Phase_I	Q08462	ADCY2_HUMAN			6	991	+			301					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.902G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727260	0.89390	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000515681;ENST00000537121	D;D;D	0.84800	-1.9;-1.9;-1.9	5.51	5.51	0.81932	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.78767	0.4335	N	0.17564	0.495	0.37792	D	0.927401	P;P	0.42757	0.789;0.769	P;B	0.45449	0.481;0.354	T	0.79876	-0.1618	10	0.32370	T	0.25	.	14.6068	0.68486	0.0:0.0:0.8542:0.1458	.	121;301	B7Z2C1;Q08462	.;ADCY2_HUMAN	Q	301;152;90;121	ENSP00000342952:R301Q;ENSP00000425069:R90Q;ENSP00000444803:R121Q	ENSP00000342952:R301Q	R	+	2	0	ADCY2	7748897	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	5.163000	0.64948	2.738000	0.93877	0.655000	0.94253	CGG		0.413	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		17	26	0	0	0	1	0	17	26					A	7695897	G	A	7695897	3	1	37	1	0	0	0	0	1	0	0	0	294	1116	39	1	924	1	ADCY2	5	7695897	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	2389188	7695897	173219363	111	3475										
DNAH5	1767	broad.mit.edu	37	chr5	13753449	13753449	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cgtgacaataattccattttGaatggacaagtcatcatttg	7	7	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:13753449G>C	ENST00000265104.4	-	63	10869	c.10765C>G	c.(10765-10767)Caa>Gaa	p.Q3589E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3589	AAA 5. {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)					ATTCCATTTTGAATGGACAAG	0.383									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.(10765-10767)Caa>Gaa		dynein, axonemal, heavy chain 5							122	113	116					5																	13753449		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.chr5:13753449G>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.10765C>G	5.37:g.13753449G>C	ENSP00000265104:p.Gln3589Glu		Somatic					p.Q3589E	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			63	10869	-	Lung NSC(4;0.00476)		3589			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10765C>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150543	0.94645	.	.	ENSG00000039139	ENST00000265104	T	0.20069	2.1	5.76	5.76	0.90799	.	0.053389	0.85682	D	0.000000	T	0.32255	0.0823	N	0.20328	0.56	0.80722	D	1	D	0.55172	0.97	D	0.65140	0.932	T	0.02047	-1.1223	10	0.30078	T	0.28	.	20.3431	0.98773	0.0:0.0:1.0:0.0	.	3589	Q8TE73	DYH5_HUMAN	E	3589	ENSP00000265104:Q3589E	ENSP00000265104:Q3589E	Q	-	1	0	DNAH5	13806449	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.358000	0.97109	2.880000	0.98712	0.650000	0.86243	CAA		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		11	57	0	0	0	1	0	11	57					C	13753449	G	C	13753449	3	2	37	1	0	0	0	0	1	0	0	0	4606	1299	45	2	3177	2	DNAH5	5	13753449	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	6057552	13753449	167161811	112	3476										
TRIM23	373	broad.mit.edu	37	chr5	64913964	64913964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	atgggcaacggattgctcttCcatgaagaggtaggcgagtg	15	7	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:64913964C>T	ENST00000231524.9	-	2	571	c.200G>A	c.(199-201)gGa>gAa	p.G67E	TRIM23_ENST00000381018.3_Missense_Mutation_p.G67E|TRIM23_ENST00000274327.7_Missense_Mutation_p.G67E	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	67					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		GATTGCTCTTCCATGAAGAGG	0.413																																						ENST00000231524.9																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(199-201)gGa>gAa		tripartite motif containing 23							132	122	126					5																	64913964		2203	4300	6503	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64913964C>T	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	660	protein-coding gene	gene with protein product		601747	"ADP-ribosylation factor domain protein 1, 64kDa", "tripartite motif-containing 23"	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.200G>A	5.37:g.64913964C>T	ENSP00000231524:p.Gly67Glu		Somatic				TRIM23_ENST00000381018.3_Missense_Mutation_p.G67E|TRIM23_ENST00000274327.7_Missense_Mutation_p.G67E	p.G67E	NM_001656.3	NP_001647.1	WXS	Illumina GAIIx	Phase_I	P36406	TRI23_HUMAN		Lung(70;0.00473)	2	571	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	67					Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.200G>A	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096136	0.76870	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	D;D;D	0.92446	-3.04;-3.04;-3.04	5.37	5.37	0.77165	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.89715	0.6795	L	0.42487	1.325	0.80722	D	1	B;B;B	0.31459	0.218;0.2;0.324	B;B;B	0.33392	0.053;0.142;0.163	D	0.88504	0.3084	10	0.49607	T	0.09	.	17.2725	0.87106	0.0:1.0:0.0:0.0	.	67;67;67	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	E	67	ENSP00000231524:G67E;ENSP00000370406:G67E;ENSP00000274327:G67E	ENSP00000231524:G67E	G	-	2	0	TRIM23	64949720	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.437000	0.80417	2.519000	0.84933	0.313000	0.20887	GGA		0.413	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		4	55	0	0	0	1	0	4	55					T	64913964	C	T	64913964	3	4	37	1	0	0	0	0	1	0	0	0	16512	855	30	3	1631	3	TRIM23	5	64913964	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	51160515	64913964	116001296	113	3477										
IQGAP2	10788	broad.mit.edu	37	chr5	75996926	75996926	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctcggagatcaattaaactaGatggaaaaggagaacccaaa	9	7	1	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:75996926G>C	ENST00000274364.6	+	34	4690	c.4393G>C	c.(4393-4395)Gat>Cat	p.D1465H	IQGAP2_ENST00000379730.3_Missense_Mutation_p.D967H|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000502745.1_Missense_Mutation_p.D961H|IQGAP2_ENST00000396234.3_Missense_Mutation_p.D961H	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1465					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)		AATTAAACTAGATGGAAAAGG	0.423																																						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.(4393-4395)Gat>Cat		IQ motif containing GTPase activating protein 2							92	90	91					5																	75996926		2203	4300	6503	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75996926G>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.4393G>C	5.37:g.75996926G>C	ENSP00000274364:p.Asp1465His		Somatic				IQGAP2_ENST00000502745.1_Missense_Mutation_p.D961H|IQGAP2_ENST00000396234.3_Missense_Mutation_p.D961H|IQGAP2_ENST00000379730.3_Missense_Mutation_p.D967H|CTD-2384B11.2_ENST00000507514.1_RNA	p.D1465H	NM_006633.2	NP_006624.2	WXS	Illumina GAIIx	Phase_I	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	34	4690	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1465					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.4393G>C	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509132	0.27036	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000396234;ENST00000502745	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.46	4.54	0.55810	RasGAP protein, C-terminal (1);	0.157834	0.56097	N	0.000038	T	0.34106	0.0886	L	0.39566	1.225	0.80722	D	1	B;B;B	0.15141	0.004;0.001;0.012	B;B;B	0.20577	0.019;0.007;0.03	T	0.15896	-1.0421	10	0.52906	T	0.07	-16.7203	10.5573	0.45125	0.0719:0.0:0.7941:0.134	.	967;961;1465	F5H7S7;Q13576-2;Q13576	.;.;IQGA2_HUMAN	H	1465;967;961;961	ENSP00000274364:D1465H;ENSP00000442313:D967H;ENSP00000379535:D961H;ENSP00000426027:D961H	ENSP00000274364:D1465H	D	+	1	0	IQGAP2	76032682	1.000000	0.71417	0.411000	0.26484	0.167000	0.22549	5.398000	0.66308	2.717000	0.92951	0.655000	0.94253	GAT		0.423	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		9	46	0	0	0	1	0	9	46					C	75996926	G	C	75996926	3	2	37	1	0	0	0	0	1	0	0	0	7824	942	33	2	4527	2	IQGAP2	5	75996926	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	11082962	75996926	104918334	114	3478										
PJA2	9867	broad.mit.edu	37	chr5	108704338	108704338	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tagctcaggttcattctcatCttttcctggcagagtctccc	7	13	5	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:108704338C>A	ENST00000361189.2	-	5	1632	c.1393G>T	c.(1393-1395)Gat>Tat	p.D465Y	PJA2_ENST00000361557.3_Missense_Mutation_p.D465Y	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	465					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TCATTCTCATCTTTTCCTGGC	0.423																																						ENST00000361189.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1393-1395)Gat>Tat		praja ring finger 2, E3 ubiquitin protein ligase							170	171	170					5																	108704338		2202	4300	6502	SO:0001583	missense	9867				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	g.chr5:108704338C>A	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"RING-type (C3HC4) zinc fingers"	17481	protein-coding gene	gene with protein product			"ring finger protein 131", "praja ring finger 2"	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.1393G>T	5.37:g.108704338C>A	ENSP00000354775:p.Asp465Tyr		Somatic				PJA2_ENST00000361557.3_Missense_Mutation_p.D465Y	p.D465Y	NM_014819.4	NP_055634.3	WXS	Illumina GAIIx	Phase_I	O43164	PJA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	5	1632	-		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)	465					A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	c.1393G>T	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639339	0.67244	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.05996	3.36;3.36	5.39	5.39	0.77823	.	0.143821	0.48286	D	0.000184	T	0.20333	0.0489	L	0.53249	1.67	0.46458	D	0.999051	D	0.89917	1.0	D	0.72982	0.979	T	0.00014	-1.2403	10	0.87932	D	0	-31.3992	14.7387	0.69437	0.0:0.8564:0.1436:0.0	.	465	O43164	PJA2_HUMAN	Y	465	ENSP00000354775:D465Y;ENSP00000355284:D465Y	ENSP00000354775:D465Y	D	-	1	0	PJA2	108732237	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.501000	0.53325	2.809000	0.96659	0.467000	0.42956	GAT		0.423	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		15	53	1	0	7.93312e-07	1	8.41685e-07	15	53					A	108704338	C	A	108704338	3	1	37	1	0	0	0	0	1	0	0	0	11971	913	32	2	757	2	PJA2	5	108704338	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	32707412	108704338	72210922	115	3479										
SEMA6A	57556	broad.mit.edu	37	chr5	115782673	115782673	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tatagtcaaccccgtaggaaGaggagtggtgcatttccagc	12	9	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:115782673G>A	ENST00000343348.6	-	19	3516	c.2729C>T	c.(2728-2730)tCt>tTt	p.S910F	SEMA6A_ENST00000503865.1_Missense_Mutation_p.S289F|SEMA6A_ENST00000510263.1_Missense_Mutation_p.S910F|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.S927F|SEMA6A_ENST00000513137.1_Missense_Mutation_p.S337F|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.S387F|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	910					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)		CCCGTAGGAAGAGGAGTGGTG	0.587																																						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.(2728-2730)tCt>tTt		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							61	68	66					5																	115782673		1973	4163	6136	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115782673G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2729C>T	5.37:g.115782673G>A	ENSP00000345512:p.Ser910Phe		Somatic				SEMA6A_ENST00000282394.6_Missense_Mutation_p.S387F|SEMA6A_ENST00000510263.1_Missense_Mutation_p.S910F|SEMA6A_ENST00000257414.8_Missense_Mutation_p.S927F|SEMA6A_ENST00000503865.1_Missense_Mutation_p.S289F|SEMA6A_ENST00000513137.1_Missense_Mutation_p.S337F	p.S910F	NM_020796.3	NP_065847.1	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)	19	3516	-		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)	910					Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.2729C>T	CCDS47256.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.39|16.39	3.111203|3.111203	0.56398|0.56398	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263	.|T;T;T;T;T;T	.|0.46819	.|2.21;2.21;0.86;2.68;0.87;2.21	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.392195	.|0.22011	.|N	.|0.065871	T|T	0.63628|0.63628	0.2527|0.2527	L|L	0.44542|0.44542	1.39|1.39	0.54753|0.54753	D|D	0.99998|0.99998	.|D;D;P;D;D;D	.|0.89917	.|0.997;0.998;0.892;1.0;0.987;0.999	.|D;D;P;D;P;D	.|0.87578	.|0.994;0.987;0.562;0.998;0.736;0.996	T|T	0.65796|0.65796	-0.6081|-0.6081	5|10	.|0.72032	.|D	.|0.01	.|.	18.3651|18.3651	0.90388|0.90388	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|289;910;454;927;387;337	.|E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01	.|.;SEM6A_HUMAN;.;.;.;.	F|F	425|910;927;337;387;289;910	.|ENSP00000345512:S910F;ENSP00000257414:S927F;ENSP00000422997:S337F;ENSP00000282394:S387F;ENSP00000425364:S289F;ENSP00000424388:S910F	.|ENSP00000257414:S927F	L|S	-|-	1|2	0|0	SEMA6A|SEMA6A	115810572|115810572	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	9.100000|9.100000	0.94213|0.94213	2.436000|2.436000	0.82500|0.82500	0.563000|0.563000	0.77884|0.77884	CTT|TCT		0.587	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		8	77	0	0	0	1	0	8	77					A	115782673	G	A	115782673	3	1	37	1	0	0	0	0	1	0	0	0	14054	942	33	3	367	3	SEMA6A	5	115782673	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	7078335	115782673	65132587	116	3480										
FNIP1	96459	broad.mit.edu	37	chr5	131006169	131006169	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cactcacctgcacagcatgaGataaatctgacatcagacac	6	13	3	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:131006169G>C	ENST00000510461.1	-	15	3190	c.3095C>G	c.(3094-3096)tCt>tGt	p.S1032C	FNIP1_ENST00000307954.8_Missense_Mutation_p.S987C|FNIP1_ENST00000307968.7_Missense_Mutation_p.S1004C|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	1032					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)		CACAGCATGAGATAAATCTGA	0.418																																						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.(3010-3012)tCt>tGt		folliculin interacting protein 1							125	114	118					5																	131006169		2203	4300	6503	SO:0001583	missense	96459							g.chr5:131006169G>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.3095C>G	5.37:g.131006169G>C	ENSP00000421985:p.Ser1032Cys		Somatic				FNIP1_ENST00000307954.8_Missense_Mutation_p.S987C|FNIP1_ENST00000510461.1_Missense_Mutation_p.S1032C|FNIP1_ENST00000514667.1_Intron	p.S1004C	NM_001008738.2	NP_001008738.2	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	14	3010	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.3011C>G	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552281	0.86127	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.12984	2.63;2.63;2.63	6.02	6.02	0.97574	.	.	.	.	.	T	0.31295	0.0792	L	0.51422	1.61	0.80722	D	1	D;D	0.61080	0.988;0.989	P;P	0.59221	0.854;0.769	T	0.00071	-1.2131	9	0.52906	T	0.07	-7.0692	20.5373	0.99239	0.0:0.0:1.0:0.0	.	1004;1032	Q8TF40-3;Q8TF40	.;FNIP1_HUMAN	C	1004;987;784;1032	ENSP00000309266:S1004C;ENSP00000310453:S987C;ENSP00000421985:S1032C	ENSP00000310453:S987C	S	-	2	0	FNIP1	131034068	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	5.119000	0.64679	2.857000	0.98124	0.650000	0.86243	TCT		0.418	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		17	89	0	0	0	1	0	17	89					C	131006169	G	C	131006169	3	2	37	1	0	0	0	0	1	0	0	0	5983	942	33	2	421	2	FNIP1	5	131006169	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	15223496	131006169	49909091	117	3481										
FAM53C	51307	broad.mit.edu	37	chr5	137682488	137682488	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctgtagccccccacccctctCtgcttcctgcagccccactg	6	22	1	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:137682488C>G	ENST00000239906.5	+	5	1447	c.1019C>G	c.(1018-1020)tCt>tGt	p.S340C	FAM53C_ENST00000513056.1_3'UTR|FAM53C_ENST00000434981.2_Missense_Mutation_p.S340C|RP11-256P1.1_ENST00000504539.1_RNA	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	340										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCACCCCTCTCTGCTTCCTGC	0.622																																						ENST00000239906.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1018-1020)tCt>tGt		family with sequence similarity 53, member C							37	41	40					5																	137682488		2203	4300	6503	SO:0001583	missense	51307							g.chr5:137682488C>G	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"chromosome 5 open reading frame 6"	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.1019C>G	5.37:g.137682488C>G	ENSP00000239906:p.Ser340Cys		Somatic				FAM53C_ENST00000513056.1_3'UTR|FAM53C_ENST00000434981.2_Missense_Mutation_p.S340C	p.S340C	NM_016605.2	NP_057689.1	WXS	Illumina GAIIx	Phase_I	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		5	1447	+			340					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.1019C>G	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371414	0.24771	.	.	ENSG00000120709	ENST00000434981;ENST00000239906	T;T	0.46819	0.86;0.86	5.19	5.19	0.71726	.	0.420659	0.25532	N	0.030026	T	0.32704	0.0838	N	0.16478	0.41	0.80722	D	1	B	0.13594	0.008	B	0.06405	0.002	T	0.08452	-1.0721	10	0.42905	T	0.14	-7.9776	13.3786	0.60754	0.0:0.8417:0.1583:0.0	.	340	Q9NYF3	FA53C_HUMAN	C	340	ENSP00000403705:S340C;ENSP00000239906:S340C	ENSP00000239906:S340C	S	+	2	0	FAM53C	137710387	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.164000	0.50770	2.687000	0.91594	0.655000	0.94253	TCT		0.622	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		9	61	0	0	0	1	0	9	61					G	137682488	C	G	137682488	3	3	37	1	0	0	0	0	1	0	0	0	5589	913	32	2	1033	2	FAM53C	5	137682488	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	6676319	137682488	43232772	118	3482										
PCDHA3	56145	broad.mit.edu	37	chr5	140182485	140182485	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cgcgccggcactgctgatgcCtcgggtgggtggcatcggtg	18	12	0	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:140182485C>A	ENST00000522353.2	+	1	1703	c.1703C>A	c.(1702-1704)cCt>cAt	p.P568H	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P568H|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	568					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)			CTGCTGATGCCTCGGGTGGGT	0.687																																						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.(1702-1704)cCt>cAt									86	86	86					5																	140182485		2203	4298	6501	SO:0001583	missense	0							g.chr5:140182485C>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1703C>A	5.37:g.140182485C>A	ENSP00000429808:p.Pro568His		Somatic				PCDHA3_ENST00000532566.2_Missense_Mutation_p.P568H|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.P568H	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	1703	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1703C>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	6.554	0.470562	0.12461	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.61392	0.11;0.11	4.54	2.71	0.32032	Cadherin-like (1);	0.420300	0.17143	U	0.185362	T	0.60235	0.2253	M	0.85299	2.745	0.25243	N	0.989738	B;B	0.26547	0.152;0.119	B;B	0.28709	0.093;0.078	T	0.56637	-0.7946	10	0.54805	T	0.06	.	9.3607	0.38195	0.0:0.7602:0.1584:0.0814	.	568;568	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	H	568	ENSP00000429808:P568H;ENSP00000434086:P568H	ENSP00000429808:P568H	P	+	2	0	PCDHA3	140162669	0.054000	0.20591	0.067000	0.19924	0.268000	0.26511	0.609000	0.24238	0.442000	0.26555	0.313000	0.20887	CCT		0.687	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		21	153	1	0	1.37657e-19	1	1.51981e-19	21	153					A	140182485	C	A	140182485	3	1	37	1	0	0	0	0	1	0	0	0	11534	681	24	5	1705	5	PCDHA3	5	140182485	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	2499997	140182485	40732775	119	3483										
SLU7	10569	broad.mit.edu	37	chr5	159830471	159830471	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ggcctcctctgcgttcagtgCctatagtgagaggaataaaa	11	9	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:159830471C>T	ENST00000297151.4	-	16	1969	c.1582G>A	c.(1582-1584)Gca>Aca	p.A528T		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	528					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGTTCAGTGCCTATAGTGAG	0.458																																						ENST00000297151.4																			0				endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20						c.e16-1		SLU7 splicing factor homolog (S. cerevisiae)							146	139	142					5																	159830471		2203	4300	6503	SO:0001630	splice_region_variant	10569				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	g.chr5:159830471C>T	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.1582-1G>A	5.37:g.159830471C>T			Somatic					p.A528_splice	NM_006425.4	NP_006416.3	WXS	Illumina GAIIx	Phase_I	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		16	1969	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	528					D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Splice_Site	SNP	ENST00000297151.4	37	c.1581_splice	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.670122	0.88348	.	.	ENSG00000164609	ENST00000297151	T	0.36340	1.26	5.59	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.47673	0.1458	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.50242	-0.8851	10	0.72032	D	0.01	-0.0591	15.8484	0.78907	0.1363:0.8637:0.0:0.0	.	528	O95391	SLU7_HUMAN	T	528	ENSP00000297151:A528T	ENSP00000297151:A528T	A	-	1	0	SLU7	159763049	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	7.271000	0.78506	2.628000	0.89032	0.655000	0.94253	GCA		0.458	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425	Missense_Mutation	58	72	0	0	0	1	0	58	72					T	159830471	C	T	159830471	5	4	37	1	0	0	0	0	0	0	1	0	14770	753	26	3	182	3	SLU7	5	159830471	Splice_Site	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	19647986	159830471	21084789	120	3484										
STK10	6793	broad.mit.edu	37	chr5	171533727	171533727	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cggctcgatctgggccatctCaatcagcgtgatgcccaggg	13	13	3	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:171533727C>G	ENST00000176763.5	-	6	1028	c.685G>C	c.(685-687)Gag>Cag	p.E229Q		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			TGGGCCATCTCAATCAGCGTG	0.597											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(685-687)Gag>Cag		serine/threonine kinase 10							120	108	112					5																	171533727		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171533727C>G	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.685G>C	5.37:g.171533727C>G	ENSP00000176763:p.Glu229Gln		Somatic	OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1893		p.E229Q	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)		6	1028	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	229			Protein kinase.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.685G>C	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381784	0.82792	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.70045	-0.45	4.86	3.99	0.46301	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75874	0.3909	L	0.54908	1.71	0.80722	D	1	D	0.56035	0.974	D	0.67900	0.954	T	0.77993	-0.2378	10	0.87932	D	0	.	12.2466	0.54574	0.1711:0.8289:0.0:0.0	.	229	O94804	STK10_HUMAN	Q	229	ENSP00000176763:E229Q	ENSP00000176763:E229Q	E	-	1	0	STK10	171466332	1.000000	0.71417	0.939000	0.37840	0.883000	0.51084	7.645000	0.83430	1.265000	0.44215	-0.181000	0.13052	GAG		0.597	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		13	63	0	0	0	1	0	13	63					G	171533727	C	G	171533727	3	3	37	1	0	0	0	0	1	0	0	0	15301	835	29	2	2277	2	STK10	5	171533727	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	11703256	171533727	9381533	121	3485										
FGFR4	2264	broad.mit.edu	37	chr5	176519359	176519359	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cccatcctgcaggccgggctCccggccaacaccacagccgt	10	20	0	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:176519359C>T	ENST00000292408.4	+	7	1010	c.765C>T	c.(763-765)ctC>ctT	p.L255L	FGFR4_ENST00000393637.1_Silent_p.L255L|FGFR4_ENST00000292410.3_Silent_p.L255L|FGFR4_ENST00000393648.2_Silent_p.L255L|FGFR4_ENST00000502906.1_Silent_p.L255L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	255	Ig-like C2-type 3.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|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 tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)|Ponatinib(DB08901)	AGGCCGGGCTCCCGGCCAACA	0.667										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(763-765)ctC>ctT		fibroblast growth factor receptor 4	Palifermin(DB00039)						22	24	23					5																	176519359		2200	4298	6498	SO:0001819	synonymous_variant	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176519359C>T	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.765C>T	5.37:g.176519359C>T		TSP Lung(9;0.080)	Somatic				FGFR4_ENST00000292410.3_Silent_p.L255L|FGFR4_ENST00000393637.1_Silent_p.L255L|FGFR4_ENST00000393648.2_Silent_p.L255L|FGFR4_ENST00000502906.1_Silent_p.L255L	p.L255L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	WXS	Illumina GAIIx	Phase_I	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1010	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	255			Ig-like C2-type 3.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Silent	SNP	ENST00000292408.4	37	c.765C>T	CCDS4410.1																																																																																				0.667	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			7	24	0	0	0	1	0	7	24					T	176519359	C	T	176519359	2	4	37	1	0	0	0	0	0	0	0	1	5876	842	30	3		3	FGFR4	5	176519359	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	4985632	176519359	4395901	122	3486										
BTNL8	79908	broad.mit.edu	37	chr5	180374588	180374588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tgctgtggcctattttttggCattgttggactgaagatttt	11	5	0	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:180374588C>T	ENST00000340184.4	+	4	956	c.750C>T	c.(748-750)ggC>ggT	p.G250G	BTNL8_ENST00000505126.1_Silent_p.G43G|BTNL8_ENST00000231229.4_Silent_p.G250G|BTNL8_ENST00000508408.1_Silent_p.G250G|BTNL8_ENST00000533815.2_Silent_p.G66G|BTNL8_ENST00000400707.3_Silent_p.G125G|BTNL8_ENST00000511704.1_Silent_p.G134G	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	250					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATTTTTTGGCATTGTTGGAC	0.463																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(748-750)ggC>ggT		butyrophilin-like 8							235	243	240					5																	180374588		2203	4296	6499	SO:0001819	synonymous_variant	79908					integral to membrane		g.chr5:180374588C>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.750C>T	5.37:g.180374588C>T			Somatic				BTNL8_ENST00000400707.3_Silent_p.G125G|BTNL8_ENST00000505126.1_Silent_p.G43G|BTNL8_ENST00000508408.1_Silent_p.G250G|BTNL8_ENST00000533815.2_Silent_p.G66G|BTNL8_ENST00000340184.4_Silent_p.G250G|BTNL8_ENST00000511704.1_Silent_p.G134G	p.G250G	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	WXS	Illumina GAIIx	Phase_I	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	984	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	250					A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Silent	SNP	ENST00000340184.4	37	c.750C>T	CCDS43413.1																																																																																				0.463	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		29	223	0	0	0	1	0	29	223					T	180374588	C	T	180374588	2	4	37	1	0	0	0	0	0	0	0	1	1569	697	25	3		3	BTNL8	5	180374588	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	3855229	180374588	540672	123	3487										
DSP	1832	broad.mit.edu	37	chr6	7571654	7571654	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gaagattacatgaagacgatAgccgaccttgagttacatta	9	7	0	4			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:7571654A>T	ENST00000379802.3	+	14	2081	c.1740A>T	c.(1738-1740)atA>atT	p.I580I	DSP_ENST00000418664.2_Silent_p.I580I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	580	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)		TGAAGACGATAGCCGACCTTG	0.443																																						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.(1738-1740)atA>atT		desmoplakin							242	237	239					6																	7571654		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7571654A>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1740A>T	6.37:g.7571654A>T			Somatic				DSP_ENST00000418664.2_Silent_p.I580I	p.I580I	NM_004415.2	NP_004406.2	WXS	Illumina GAIIx	Phase_I	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	14	2081	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	580			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.1740A>T	CCDS4501.1																																																																																				0.443	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		27	261	0	0	0	1	0	27	261					T	7571654	A	T	7571654	2	4	37	1	0	0	0	0	0	0	0	1	4783	410	15	4		4	DSP	6	7571654	Silent	SNP	A	TCGA-N9-A4Q7-01A-11D-A28R-08		7571654	163543413	124	3488										
ALDH5A1	7915	broad.mit.edu	37	chr6	24515420	24515420	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aagccaggctgggattccttCaggtgtatacaatgttattc	10	8	1	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:24515420C>T	ENST00000357578.3	+	5	897	c.752C>T	c.(751-753)tCa>tTa	p.S251L	ALDH5A1_ENST00000546278.1_Missense_Mutation_p.S163L|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.S264L|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.S223L	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	251					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	GGGATTCCTTCAGGTGTATAC	0.378																																						ENST00000357578.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20						c.(751-753)tCa>tTa		aldehyde dehydrogenase 5 family, member A1	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						136	130	132					6																	24515420		2203	4300	6503	SO:0001583	missense	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24515420C>T	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"Aldehyde dehydrogenases"	408	protein-coding gene	gene with protein product	"succinate-semialdehyde dehydrogenase"	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.752C>T	6.37:g.24515420C>T	ENSP00000350191:p.Ser251Leu		Somatic				ALDH5A1_ENST00000348925.2_Missense_Mutation_p.S264L|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.S223L|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.S163L	p.S251L	NM_001080.3	NP_001071.1	WXS	Illumina GAIIx	Phase_I	P51649	SSDH_HUMAN			5	897	+			251					B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	c.752C>T	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957545	0.34565	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.17	5.17	0.71159	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.559491	0.18621	N	0.135861	D	0.83198	0.5202	L	0.41824	1.3	0.09310	N	1	P;P	0.38167	0.535;0.621	B;B	0.36766	0.232;0.149	T	0.81099	-0.1086	10	0.72032	D	0.01	-0.4092	18.8559	0.92252	0.0:1.0:0.0:0.0	.	251;264	P51649;G5E949	SSDH_HUMAN;.	L	251;163;223;264	ENSP00000350191:S251L;ENSP00000438193:S163L;ENSP00000417687:S223L;ENSP00000314649:S264L	ENSP00000314649:S264L	S	+	2	0	ALDH5A1	24623399	0.559000	0.26562	0.017000	0.16124	0.068000	0.16541	6.635000	0.74295	2.693000	0.91896	0.467000	0.42956	TCA		0.378	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			6	68	0	0	0	1	0	6	68					T	24515420	C	T	24515420	3	4	37	1	0	0	0	0	1	0	0	0	502	838	29	3	813	3	ALDH5A1	6	24515420	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	16943766	24515420	146599647	125	3489										
HIST1H2AK	8330	broad.mit.edu	37	chr6	27805761	27805761	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttgtggtggctctcagttttCttaggcagcagcacggcctg	13	10	2	0	rs551526680		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:27805761C>T	ENST00000330180.2	-	1	356	c.357G>A	c.(355-357)aaG>aaA	p.K119K	HIST1H2BN_ENST00000606613.1_5'Flank|HIST1H2BN_ENST00000396980.3_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	119						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						TCTCAGTTTTCTTAGGCAGCA	0.552																																						ENST00000330180.2																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						c.(355-357)aaG>aaA		histone cluster 1, H2ak							88	89	89					6																	27805761		2203	4300	6503	SO:0001819	synonymous_variant	8330				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27805761C>T	Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"Histones / Replication-dependent"	4726	protein-coding gene	gene with protein product		602788	"H2A histone family, member D", "histone 1, H2ak"	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.357G>A	6.37:g.27805761C>T			Somatic					p.K119K	NM_003510.2	NP_003501.1	WXS	Illumina GAIIx	Phase_I	P0C0S8	H2A1_HUMAN			1	356	-			119					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000330180.2	37	c.357G>A	CCDS4632.1																																																																																				0.552	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043814.1	NM_003510		10	156	0	0	0	1	0	10	156					T	27805761	C	T	27805761	2	4	37	1	0	0	0	0	0	0	0	1	7146	912	32	3		3	HIST1H2AK	6	27805761	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	3290341	27805761	143309306	126	3490										
MUC21	394263	broad.mit.edu	37	chr6	30955308	30955308	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ggctctggaacagcagctctGactggaatgcacacaacttc	10	12	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:30955308G>A	ENST00000376296.3	+	2	1597	c.1356G>A	c.(1354-1356)ctG>ctA	p.L452L	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	452					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						CAGCAGCTCTGACTGGAATGC	0.577																																						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.(1354-1356)ctG>ctA		mucin 21, cell surface associated							122	116	118					6																	30955308		2203	4300	6503	SO:0001819	synonymous_variant	394263					integral to membrane|plasma membrane		g.chr6:30955308G>A	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.1356G>A	6.37:g.30955308G>A			Somatic				MUC21_ENST00000486149.2_5'UTR	p.L452L	NM_001010909.2	NP_001010909.2	WXS	Illumina GAIIx	Phase_I	Q5SSG8	MUC21_HUMAN			2	1597	+			452					B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	c.1356G>A	CCDS34388.1																																																																																				0.577	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		8	160	0	0	0	1	0	8	160					A	30955308	G	A	30955308	2	1	37	1	0	0	0	0	0	0	0	1	9986	1277	45	3		3	MUC21	6	30955308	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	3149547	30955308	140159759	127	3491										
BAT2	7916	broad.mit.edu	37	chr6	31604698	31604698	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ccttcacctgccaggcccttCcccgctagcttggggcgagc	11	18	1	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:31604698C>G	ENST00000376033.2	+	28	6357	c.6123C>G	c.(6121-6123)ttC>ttG	p.F2041L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.F2041L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2041	3 X 50 AA type C repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCAGGCCCTTCCCCGCTAGCT	0.632																																						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.(6121-6123)ttC>ttG		proline-rich coiled-coil 2A							62	77	72					6																	31604698		1507	2707	4214	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31604698C>G	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.6123C>G	6.37:g.31604698C>G	ENSP00000365201:p.Phe2041Leu		Somatic				PRRC2A_ENST00000376007.4_Missense_Mutation_p.F2041L	p.F2041L	NM_004638.3	NP_004629.3	WXS	Illumina GAIIx	Phase_I	P48634	PRC2A_HUMAN			28	6357	+			2041			3 X 50 AA type C repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.6123C>G	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.377093	0.24857	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01725	4.67;4.67	5.48	2.75	0.32379	.	0.000000	0.64402	D	0.000013	T	0.01523	0.0049	N	0.19112	0.55	0.34751	D	0.731815	P	0.52842	0.956	D	0.65010	0.931	T	0.57946	-0.7723	10	0.87932	D	0	-9.2654	8.9971	0.36059	0.0:0.7641:0.0:0.2359	.	2041	P48634	PRC2A_HUMAN	L	2033;2022;2041;2041;1266	ENSP00000365175:F2041L;ENSP00000365201:F2041L	ENSP00000365175:F2041L	F	+	3	2	PRRC2A	31712677	0.985000	0.35326	0.878000	0.34440	0.895000	0.52256	0.315000	0.19451	0.428000	0.26173	-0.148000	0.13756	TTC		0.632	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		12	128	0	0	0	1	0	12	128					G	31604698	C	G	31604698	3	3	37	1	0	0	0	0	1	0	0	0	1319	854	30	2	6229	2	BAT2	6	31604698	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	649390	31604698	139510369	128	3492										
TNXB	7148	broad.mit.edu	37	chr6	32063827	32063827	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	caacagatgcacacaccgtcCtggcacacgccgtgctggct	10	16	0	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:32063827C>A	ENST00000479795.1	-	3	1943	c.1803G>T	c.(1801-1803)caG>caT	p.Q601H	TNXB_ENST00000375244.3_Missense_Mutation_p.Q601H|TNXB_ENST00000375247.2_Missense_Mutation_p.Q601H			P22105	TENX_HUMAN	tenascin XB	601	EGF-like 15. {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						ACACACCGTCCTGGCACACGC	0.647																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(1801-1803)caG>caT		tenascin XB							32	33	33					6																	32063827		2194	4293	6487	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.chr6:32063827C>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	ENST00000479795.1:c.1803G>T	6.37:g.32063827C>A	ENSP00000418248:p.Gln601His		Somatic				TNXB_ENST00000479795.1_Missense_Mutation_p.Q601H|TNXB_ENST00000375247.2_Missense_Mutation_p.Q601H	p.Q601H			WXS	Illumina GAIIx	Phase_I	P22105	TENX_HUMAN			3	2004	-			601			EGF-like 15.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37	c.1803G>T		.	.	.	.	.	.	.	.	.	.	c	6.938	0.542774	0.13250	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.03272	3.99;3.99;3.99	4.26	0.282	0.15692	.	0.175073	0.27595	N	0.018672	T	0.00666	0.0022	N	0.20328	0.56	0.25290	N	0.989361	B	0.16802	0.019	B	0.12156	0.007	T	0.48151	-0.9060	10	0.49607	T	0.09	.	0.6559	0.00834	0.1718:0.3538:0.1672:0.3071	.	601	P22105-3	.	H	601	ENSP00000364393:Q601H;ENSP00000364396:Q601H;ENSP00000418248:Q601H	ENSP00000364393:Q601H	Q	-	3	2	TNXB	32171805	0.000000	0.05858	0.984000	0.44739	0.844000	0.47949	-0.897000	0.04110	0.460000	0.27045	0.462000	0.41574	CAG		0.647	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		8	55	1	0	5.18039e-06	1	5.43005e-06	8	55					A	32063827	C	A	32063827	3	1	37	1	0	0	0	0	1	0	0	0	16361	680	24	5	13078	5	TNXB	6	32063827	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	459129	32063827	139051240	129	3493										
PRRT1	80863	broad.mit.edu	37	chr6	32117019	32117019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttagggatcccagtagttctCgtggtgctgcgcggcgatga	15	9	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:32117019C>T	ENST00000211413.5	-	4	1025	c.901G>A	c.(901-903)Gag>Aag	p.E301K	PRRT1_ENST00000375150.2_Missense_Mutation_p.E220K|PRRT1_ENST00000375152.2_Missense_Mutation_p.E220K|PRRT1_ENST00000467780.1_5'UTR	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	301					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CAGTAGTTCTCGTGGTGCTGC	0.627																																						ENST00000211413.5																			0				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						c.(901-903)Gag>Aag		proline-rich transmembrane protein 1							36	44	41					6																	32117019		1508	2707	4215	SO:0001583	missense	80863				response to biotic stimulus	integral to membrane		g.chr6:32117019C>T	AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"Proline-rich transmembrane proteins"	13943	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 7"		"chromosome 6 open reading frame 31"	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.901G>A	6.37:g.32117019C>T	ENSP00000211413:p.Glu301Lys		Somatic				PRRT1_ENST00000467780.1_5'UTR|PRRT1_ENST00000375152.2_Missense_Mutation_p.E220K|PRRT1_ENST00000375150.2_Missense_Mutation_p.E220K	p.E301K	NM_030651.3	NP_085154.3	WXS	Illumina GAIIx	Phase_I	Q99946	PRRT1_HUMAN			4	1025	-			301					A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Missense_Mutation	SNP	ENST00000211413.5	37	c.901G>A	CCDS4739.1	.	.	.	.	.	.	.	.	.	.	c	23.3	4.397453	0.83120	.	.	ENSG00000204314	ENST00000211413;ENST00000375150;ENST00000375152	D;D;D	0.91180	-2.79;-2.8;-2.8	4.46	4.46	0.54185	.	.	.	.	.	T	0.71307	0.3324	N	0.08118	0	0.43467	D	0.995673	B;P	0.34546	0.167;0.456	B;B	0.25140	0.012;0.058	T	0.78417	-0.2212	9	0.59425	D	0.04	-1.407	14.6746	0.68969	0.0:1.0:0.0:0.0	.	301;220	Q99946;Q99946-2	PRRT1_HUMAN;.	K	301;220;220	ENSP00000211413:E301K;ENSP00000364292:E220K;ENSP00000364294:E220K	ENSP00000211413:E301K	E	-	1	0	PRRT1	32224997	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.537000	0.73847	2.332000	0.79248	0.645000	0.84053	GAG		0.627	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076255.2	NM_030651		11	30	0	0	0	1	0	11	30					T	32117019	C	T	32117019	3	4	37	1	0	0	0	0	1	0	0	0	12621	893	31	1	23	1	PRRT1	6	32117019	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	53192	32117019	138998048	130	3494										
C6orf153	88745	broad.mit.edu	37	chr6	42996873	42996873	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gctgagaagttcaaggagctGaaacgcagcaagaaattgga	13	6	1	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:42996873G>C	ENST00000244496.5	+	7	697	c.687G>C	c.(685-687)ctG>ctC	p.L229L		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	229					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TCAAGGAGCTGAAACGCAGCA	0.468																																						ENST00000244496.5																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(685-687)ctG>ctC		ribosomal RNA processing 36 homolog (S. cerevisiae)							157	160	159					6																	42996873		2203	4300	6503	SO:0001819	synonymous_variant	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42996873G>C	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"chromosome 6 open reading frame 153"	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.687G>C	6.37:g.42996873G>C			Somatic					p.L229L	NM_033112.2	NP_149103.1	WXS	Illumina GAIIx	Phase_I	Q96EU6	RRP36_HUMAN			7	697	+			229					Q9BRF6|Q9P0C8	Silent	SNP	ENST00000244496.5	37	c.687G>C	CCDS34453.1																																																																																				0.468	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		23	256	0	0	0	1	0	23	256					C	42996873	G	C	42996873	2	2	37	1	0	0	0	0	0	0	0	1	2340	1277	45	2		2	C6orf153	6	42996873	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	10879854	42996873	128118194	131	3495										
CAPN11	11131	broad.mit.edu	37	chr6	44144372	44144372	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cagatgcagctgctgcacaaGacggaggacggggagttctg	16	9	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:44144372G>C	ENST00000398776.1	+	10	1094	c.1056G>C	c.(1054-1056)aaG>aaC	p.K352N	CAPN11_ENST00000542245.1_Missense_Mutation_p.K352N	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	352	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCTGCACAAGACGGAGGACG	0.627																																						ENST00000542245.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(1054-1056)aaG>aaC		calpain 11							95	110	105					6																	44144372		2100	4239	6339	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44144372G>C	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1056G>C	6.37:g.44144372G>C	ENSP00000381758:p.Lys352Asn		Somatic				CAPN11_ENST00000398776.1_Missense_Mutation_p.K352N	p.K352N			WXS	Illumina GAIIx	Phase_I	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		10	1094	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		352			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.1056G>C	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	G	5.978	0.364457	0.11296	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.88201	-2.35;-2.35	4.57	3.67	0.42095	Peptidase C2, calpain, catalytic domain (3);	1.062400	0.07341	N	0.880819	T	0.77611	0.4156	L	0.42529	1.33	0.22591	N	0.998954	B;B	0.21309	0.015;0.054	B;B	0.17433	0.018;0.012	T	0.70000	-0.4992	10	0.45353	T	0.12	.	13.5874	0.61940	0.0:0.1569:0.8431:0.0	.	6;352	B4DT90;Q9UMQ6	.;CAN11_HUMAN	N	352	ENSP00000381758:K352N;ENSP00000441078:K352N	ENSP00000381758:K352N	K	+	3	2	CAPN11	44252350	0.011000	0.17503	0.497000	0.27552	0.015000	0.08874	1.245000	0.32790	1.111000	0.41721	0.543000	0.68304	AAG		0.627	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			11	68	0	0	0	1	0	11	68					C	44144372	G	C	44144372	3	2	37	1	0	0	0	0	1	0	0	0	2626	933	33	2	1094	2	CAPN11	6	44144372	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	1147499	44144372	126970695	132	3496										
SLC35B2	347734	broad.mit.edu	37	chr6	44224543	44224543	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	catagctgggtccatgactcCggaggggcttcgggagtctc	15	11	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:44224543C>A	ENST00000393812.3	-	2	227	c.84G>T	c.(82-84)ccG>ccT	p.P28P	SLC35B2_ENST00000393810.1_Silent_p.P28P|SLC35B2_ENST00000538577.1_5'UTR|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000537814.1_Intron	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	28					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|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)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCATGACTCCGGAGGGGCTT	0.577																																						ENST00000393812.3																			0				breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15						c.(82-84)ccG>ccT		solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2							78	84	82					6																	44224543		2203	4300	6503	SO:0001819	synonymous_variant	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44224543C>A	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"Solute carriers"	16872	protein-coding gene	gene with protein product		610788	"solute carrier family 35, member B2"				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.84G>T	6.37:g.44224543C>A			Somatic				SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000538577.1_5'UTR|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000393810.1_Silent_p.P28P	p.P28P	NM_178148.2	NP_835361.1	WXS	Illumina GAIIx	Phase_I	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	227	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		28					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Silent	SNP	ENST00000393812.3	37	c.84G>T	CCDS34462.1																																																																																				0.577	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			18	109	1	0	6.94344e-10	1	7.55099e-10	18	109					A	44224543	C	A	44224543	2	1	37	1	0	0	0	0	0	0	0	1	14591	639	23	5		5	SLC35B2	6	44224543	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	80171	44224543	126890524	133	3497										
EEF1A1	1915	broad.mit.edu	37	chr6	74229640	74229640	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tctcaaatttttcaatggttCttttgtcgatgccaccgcat	6	10	3	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:74229640C>T	ENST00000316292.9	-	1	1101	c.110G>A	c.(109-111)aGa>aAa	p.R37K	EEF1A1_ENST00000331523.2_Missense_Mutation_p.R37K|EEF1A1_ENST00000491404.1_5'Flank|EEF1A1_ENST00000309268.6_Missense_Mutation_p.R37K	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	37	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTCAATGGTTCTTTTGTCGAT	0.408																																						ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(109-111)aGa>aAa		eukaryotic translation elongation factor 1 alpha 1							101	104	103					6																	74229640		2203	4300	6503	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229640C>T	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"leukocyte receptor cluster (LRC) member 7"	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.110G>A	6.37:g.74229640C>T	ENSP00000339063:p.Arg37Lys		Somatic				EEF1A1_ENST00000331523.2_Missense_Mutation_p.R37K|EEF1A1_ENST00000309268.6_Missense_Mutation_p.R37K	p.R37K	NM_001402.5	NP_001393.1	WXS	Illumina GAIIx	Phase_I	P68104	EF1A1_HUMAN			1	1101	-			37					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.110G>A	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270265	0.80469	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	4.15	4.15	0.48705	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	U	0.000000	T	0.76097	0.3940	L	0.45744	1.44	0.80722	D	1	P;D;D;D;D	0.69078	0.953;0.997;0.997;0.997;0.997	D;D;D;D;D	0.85130	0.97;0.997;0.997;0.997;0.997	T	0.79654	-0.1713	10	0.87932	D	0	.	17.0056	0.86392	0.0:1.0:0.0:0.0	.	37;37;37;37;37	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	K	37	ENSP00000339063:R37K;ENSP00000339053:R37K;ENSP00000330054:R37K;ENSP00000348651:R37K;ENSP00000392366:R37K	ENSP00000339053:R37K	R	-	2	0	EEF1A1	74286361	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.457000	0.80775	2.310000	0.77875	0.555000	0.69702	AGA		0.408	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		5	60	0	0	0	1	0	5	60					T	74229640	C	T	74229640	3	4	37	1	0	0	0	0	1	0	0	0	4925	913	32	3	1306	3	EEF1A1	6	74229640	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	30005097	74229640	96885427	134	3498										
ORC3L	23595	broad.mit.edu	37	chr6	88317395	88317395	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tttttatattccacagatatGaaacattttttgcaaaagtt	4	5	0	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:88317395G>C	ENST00000392844.3	+	6	480	c.432G>C	c.(430-432)atG>atC	p.M144I	ORC3_ENST00000478028.1_3'UTR|ORC3_ENST00000257789.4_Missense_Mutation_p.M144I|ORC3_ENST00000546266.1_Start_Codon_SNP_p.M1I|ORC3_ENST00000417380.2_Missense_Mutation_p.M91I	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	144					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						CCACAGATATGAAACATTTTT	0.338																																						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.(430-432)atG>atC		origin recognition complex, subunit 3							81	79	80					6																	88317395		2202	4300	6502	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.chr6:88317395G>C	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.432G>C	6.37:g.88317395G>C	ENSP00000376586:p.Met144Ile		Somatic				ORC3_ENST00000478028.1_3'UTR|ORC3_ENST00000417380.2_Missense_Mutation_p.M91I|ORC3_ENST00000257789.4_Missense_Mutation_p.M144I|ORC3_ENST00000546266.1_Start_Codon_SNP_p.M1I	p.M144I	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	WXS	Illumina GAIIx	Phase_I	Q9UBD5	ORC3_HUMAN			6	480	+			144					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	c.432G>C	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	G	0.181	-1.061821	0.01950	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266;ENST00000417380	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	5.82	-4.32	0.03688	.	0.626694	0.18700	N	0.133605	T	0.01124	0.0037	N	0.02721	-0.515	0.58432	D	0.999993	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.003;0.001;0.001	T	0.41466	-0.9507	10	0.08599	T	0.76	-3.3003	8.9	0.35487	0.6081:0.0:0.2246:0.1673	.	144;144;144;144	B7ZAI3;B7Z8A5;Q9UBD5;Q9UBD5-2	.;.;ORC3_HUMAN;.	I	144;144;1;91	ENSP00000376586:M144I;ENSP00000257789:M144I;ENSP00000444695:M1I;ENSP00000390176:M91I	ENSP00000257789:M144I	M	+	3	0	ORC3	88374114	0.602000	0.26916	0.883000	0.34634	0.224000	0.24922	-0.408000	0.07169	-0.818000	0.04329	-0.982000	0.02568	ATG		0.338	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			4	31	0	0	0	1	0	4	31					C	88317395	G	C	88317395	3	2	37	1	0	0	0	0	1	0	0	0	11272	1290	45	2	454	2	ORC3L	6	88317395	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	14087755	88317395	82797672	135	3499										
CNR1	1268	broad.mit.edu	37	chr6	88854953	88854953	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ggaggtcagtggtgatggtgCggaaggtggtatctgcaagg	20	4	2	1	rs142010122		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:88854953C>A	ENST00000537554.1	-	2	3603	c.41G>T	c.(40-42)cGc>cTc	p.R14L	CNR1_ENST00000369499.2_Missense_Mutation_p.R14L|CNR1_ENST00000362094.5_Missense_Mutation_p.R14L|CNR1_ENST00000468898.1_Missense_Mutation_p.R14L|CNR1_ENST00000549890.1_Missense_Mutation_p.R14L|CNR1_ENST00000535130.1_Missense_Mutation_p.R14L|CNR1_ENST00000428600.2_Missense_Mutation_p.R14L|CNR1_ENST00000369501.2_Missense_Mutation_p.R14L|CNR1_ENST00000549716.1_Missense_Mutation_p.A9S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	14					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)	GGTGATGGTGCGGAAGGTGGT	0.483																																						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.(40-42)cGc>cTc		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						172	148	156					6																	88854953		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854953C>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.41G>T	6.37:g.88854953C>A	ENSP00000441046:p.Arg14Leu		Somatic				CNR1_ENST00000369499.2_Missense_Mutation_p.R14L|CNR1_ENST00000549890.1_Missense_Mutation_p.R14L|CNR1_ENST00000535130.1_Missense_Mutation_p.R14L|CNR1_ENST00000428600.2_Missense_Mutation_p.R14L|CNR1_ENST00000549716.1_Missense_Mutation_p.A9S|CNR1_ENST00000362094.5_Missense_Mutation_p.R14L|CNR1_ENST00000369501.2_Missense_Mutation_p.R14L|CNR1_ENST00000468898.1_Missense_Mutation_p.R14L	p.R14L	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	3603	-		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)	14					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.41G>T	CCDS5015.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.49|17.49	3.402819|3.402819	0.62288|0.62288	.|.	.|.	ENSG00000118432|ENSG00000118432	ENST00000549716|ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000362094;ENST00000468898;ENST00000428600;ENST00000551417	T|T;T;T;T;T;D;T	0.74737|0.88354	-0.87|-0.99;-0.99;-0.99;-0.99;-0.99;-2.37;-0.99	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.110918	.|0.64402	.|D	.|0.000008	D|D	0.90072|0.90072	0.6899|0.6899	L|L	0.29908|0.29908	0.895|0.895	0.34127|0.34127	D|D	0.664812|0.664812	.|D;P	.|0.63046	.|0.992;0.841	.|D;B	.|0.70487	.|0.969;0.303	D|D	0.91144|0.91144	0.4948|0.4948	7|10	0.52906|0.87932	T|D	0.07|0	.|.	20.0015|20.0015	0.97412|0.97412	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|14;14	.|P21554-3;P21554	.|.;CNR1_HUMAN	S|L	9|14	ENSP00000449549:A9S|ENSP00000358513:R14L;ENSP00000442689:R14L;ENSP00000441046:R14L;ENSP00000358511:R14L;ENSP00000446819:R14L;ENSP00000420188:R14L;ENSP00000412192:R14L	ENSP00000449549:A9S|ENSP00000355418:R14L	A|R	-|-	1|2	0|0	CNR1|CNR1	88911672|88911672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.487000|7.487000	0.81328|0.81328	2.732000|2.732000	0.93576|0.93576	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.483	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			11	118	1	0	3.07112e-06	1	3.2269e-06	11	118					A	88854953	C	A	88854953	3	1	37	1	0	0	0	0	1	0	0	0	3633	768	27	5	1381	5	CNR1	6	88854953	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	537558	88854953	82260114	136	3500										
MDN1	23195	broad.mit.edu	37	chr6	90371187	90371187	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tcggtgtcctcaccaccattCttgtcttcactgtcgaggtt	8	13	4	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:90371187C>T	ENST00000369393.3	-	88	14791	c.14676G>A	c.(14674-14676)aaG>aaA	p.K4892K	MDN1_ENST00000428876.1_Silent_p.K4892K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4892					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)		CACCACCATTCTTGTCTTCAC	0.458																																						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.(14674-14676)aaG>aaA		MDN1, midasin homolog (yeast)							206	196	199					6																	90371187		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.chr6:90371187C>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.14676G>A	6.37:g.90371187C>T			Somatic				MDN1_ENST00000428876.1_Silent_p.K4892K	p.K4892K			WXS	Illumina GAIIx	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	88	14791	-		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)	4892					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.14676G>A	CCDS5024.1																																																																																				0.458	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			7	101	0	0	0	1	0	7	101					T	90371187	C	T	90371187	2	4	37	1	0	0	0	0	0	0	0	1	9424	912	32	3		3	MDN1	6	90371187	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	1516234	90371187	80743880	137	3501										
L3MBTL3	84456	broad.mit.edu	37	chr6	130392265	130392265	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	acaactgggatgagagctatGactattggtgagacattttc	11	6	0	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:130392265G>A	ENST00000529410.1	+	15	1716	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N	L3MBTL3_ENST00000368139.2_Missense_Mutation_p.D388N|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.D388N|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.D388N|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.D413N|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.D413N			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	413					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TGAGAGCTATGACTATTGGTG	0.343																																						ENST00000529410.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43						c.(1237-1239)Gac>Aac		l(3)mbt-like 3 (Drosophila)							221	214	217					6																	130392265		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130392265G>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.1237G>A	6.37:g.130392265G>A	ENSP00000431962:p.Asp413Asn		Somatic				L3MBTL3_ENST00000533560.1_Missense_Mutation_p.D388N|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.D388N|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.D413N|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.D388N|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.D413N	p.D413N			WXS	Illumina GAIIx	Phase_I	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	15	1716	+			413					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.1237G>A	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	G	36	5.657867	0.96734	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.80954	0.4723	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83156	-0.0101	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	388;413	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	N	413;388;413;388;388;413	ENSP00000431962:D413N;ENSP00000437185:D388N;ENSP00000354526:D413N;ENSP00000357121:D388N;ENSP00000436706:D388N;ENSP00000357118:D413N	ENSP00000354526:D413N	D	+	1	0	L3MBTL3	130433958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAC		0.343	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		16	135	0	0	0	1	0	16	135					A	130392265	G	A	130392265	3	1	37	1	0	0	0	0	1	0	0	0	8602	1290	45	3	1279	3	L3MBTL3	6	130392265	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	40021078	130392265	40722802	138	3502										
EPB41L2	2037	broad.mit.edu	37	chr6	131179290	131179290	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ccttacttaatcttccccttCctcagccaactctgtttctt	2	16	4	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:131179290C>G	ENST00000337057.3	-	19	3185	c.3004G>C	c.(3004-3006)Gaa>Caa	p.E1002Q	EPB41L2_ENST00000531410.1_Missense_Mutation_p.E123Q|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E744Q|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E744Q|EPB41L2_ENST00000525271.1_Missense_Mutation_p.E670Q|EPB41L2_ENST00000392427.3_Missense_Mutation_p.E670Q|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E1002Q|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E932Q|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E932Q|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E808Q|EPB41L2_ENST00000525193.1_Missense_Mutation_p.E703Q|EPB41L2_ENST00000524581.1_Missense_Mutation_p.E380Q|EPB41L2_ENST00000530757.1_Missense_Mutation_p.E198Q|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E849Q	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	1002	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)		TCTTCCCCTTCCTCAGCCAAC	0.502																																						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.(3004-3006)Gaa>Caa		erythrocyte membrane protein band 4.1-like 2							360	251	288					6																	131179290		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131179290C>G	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.3004G>C	6.37:g.131179290C>G	ENSP00000338481:p.Glu1002Gln		Somatic				EPB41L2_ENST00000525193.1_Missense_Mutation_p.E703Q|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E808Q|EPB41L2_ENST00000392427.3_Missense_Mutation_p.E670Q|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E932Q|EPB41L2_ENST00000525271.1_Missense_Mutation_p.E670Q|EPB41L2_ENST00000530757.1_Missense_Mutation_p.E198Q|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E849Q|EPB41L2_ENST00000524581.1_Missense_Mutation_p.E380Q|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E932Q|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E744Q|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E1002Q|EPB41L2_ENST00000531410.1_Missense_Mutation_p.E123Q|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E744Q	p.E1002Q	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)	19	3185	-	Breast(56;0.0639)		1002			Carboxyl-terminal (CTD).		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.3004G>C	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087762	0.94100	.	.	ENSG00000079819	ENST00000531410;ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000530757;ENST00000392427;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	T;D;D;D;D;T;D;D;D;D;D;D;D;D	0.87809	-1.3;-1.97;-2.02;-1.97;-2.11;-1.33;-1.89;-2.11;-2.3;-1.58;-1.89;-1.9;-1.88;-2.3	6.16	6.16	0.99307	.	0.044723	0.85682	D	0.000000	D	0.92355	0.7574	L	0.61036	1.89	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	0.991;0.987;1.0;0.999;0.999;0.998	D;P;D;D;D;D	0.83275	0.956;0.827;0.996;0.995;0.994;0.961	D	0.91195	0.4987	10	0.59425	D	0.04	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	670;849;1002;744;380;169	B4DHI8;E9PPD9;O43491;Q68DV2;Q6R5J7;Q9UG62	.;.;E41L2_HUMAN;.;.;.	Q	123;744;849;744;1002;198;670;1002;932;380;670;703;808;932	ENSP00000434596:E123Q;ENSP00000434308:E744Q;ENSP00000434576:E849Q;ENSP00000402041:E744Q;ENSP00000338481:E1002Q;ENSP00000436349:E198Q;ENSP00000376222:E670Q;ENSP00000357110:E1002Q;ENSP00000436348:E932Q;ENSP00000437207:E380Q;ENSP00000432803:E670Q;ENSP00000431988:E703Q;ENSP00000431647:E808Q;ENSP00000436641:E932Q	ENSP00000338481:E1002Q	E	-	1	0	EPB41L2	131220983	1.000000	0.71417	0.986000	0.45419	0.860000	0.49131	7.463000	0.80869	2.937000	0.99478	0.650000	0.86243	GAA		0.502	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			21	148	0	0	0	1	0	21	148					G	131179290	C	G	131179290	3	3	37	1	0	0	0	0	1	0	0	0	5155	864	30	2	17	2	EPB41L2	6	131179290	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	787025	131179290	39935777	139	3503										
VNN2	8875	broad.mit.edu	37	chr6	133072608	133072608	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	agttttcccaactctgtcttCatgtcataatgatacacttt	4	10	4	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:133072608C>T	ENST00000326499.6	-	5	1000	c.876G>A	c.(874-876)atG>atA	p.M292I	VNN2_ENST00000526192.1_5'Flank|VNN2_ENST00000525270.1_Missense_Mutation_p.M239I|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525289.1_Intron	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	292	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		ACTCTGTCTTCATGTCATAAT	0.428																																						ENST00000326499.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(874-876)atG>atA		vanin 2							66	67	66					6																	133072608		2201	4264	6465	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133072608C>T	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"Vanins"	12706	protein-coding gene	gene with protein product	"pantetheinase"	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.876G>A	6.37:g.133072608C>T	ENSP00000322276:p.Met292Ile		Somatic				VNN2_ENST00000525270.1_Missense_Mutation_p.M239I|VNN2_ENST00000525289.1_Intron	p.M292I	NM_004665.2	NP_004656.2	WXS	Illumina GAIIx	Phase_I	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	5	1000	-			292			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.876G>A	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480582	0.26598	.	.	ENSG00000112303	ENST00000326499;ENST00000525270	T;T	0.57436	0.4;0.4	5.56	4.69	0.59074	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.138702	0.49305	D	0.000149	T	0.33235	0.0856	M	0.74467	2.265	0.80722	D	1	B	0.25351	0.124	B	0.28991	0.097	T	0.25293	-1.0136	10	0.21540	T	0.41	-8.8067	7.499	0.27507	0.1243:0.6869:0.1204:0.0684	.	292	O95498	VNN2_HUMAN	I	292;239	ENSP00000322276:M292I;ENSP00000436822:M239I	ENSP00000322276:M292I	M	-	3	0	VNN2	133114301	0.000000	0.05858	0.780000	0.31762	0.228000	0.25075	-0.639000	0.05446	1.474000	0.48178	0.609000	0.83330	ATG		0.428	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			14	69	0	0	0	1	0	14	69					T	133072608	C	T	133072608	3	4	37	1	0	0	0	0	1	0	0	0	17198	826	29	3	698	3	VNN2	6	133072608	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	1893318	133072608	38042459	140	3504										
MAD1L1	8379	broad.mit.edu	37	chr7	2188795	2188795	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ggccaggtctacctgctggtGacggcgctgttcttgtcctt	13	12	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:2188795G>A	ENST00000406869.1	-	11	1622	c.1065C>T	c.(1063-1065)gtC>gtT	p.V355V	MAD1L1_ENST00000399654.2_Silent_p.V355V|MAD1L1_ENST00000265854.7_Silent_p.V355V|MAD1L1_ENST00000402746.1_Silent_p.V263V			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	355					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)		ACCTGCTGGTGACGGCGCTGT	0.582																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(1063-1065)gtC>gtT		MAD1 mitotic arrest deficient-like 1 (yeast)							83	93	90					7																	2188795		2120	4233	6353	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.chr7:2188795G>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.1065C>T	7.37:g.2188795G>A			Somatic				MAD1L1_ENST00000265854.7_Silent_p.V355V|MAD1L1_ENST00000402746.1_Silent_p.V263V|MAD1L1_ENST00000399654.2_Silent_p.V355V	p.V355V			WXS	Illumina GAIIx	Phase_I	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	11	1622	-		Ovarian(82;0.0272)	355					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.1065C>T	CCDS43539.1																																																																																				0.582	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		5	45	0	0	0	1	0	5	45					A	2188795	G	A	2188795	2	1	37	1	0	0	0	0	0	0	0	1	9156	1277	45	3		3	MAD1L1	7	2188795	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08		2188795	156949868	141	3505										
EIF3B	8662	broad.mit.edu	37	chr7	2395011	2395011	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cggcgacgcggacgagccctCcttcagcgaccccgaggact	13	17	1	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:2395011C>G	ENST00000360876.4	+	1	511	c.455C>G	c.(454-456)tCc>tGc	p.S152C	EIF3B_ENST00000397011.2_Missense_Mutation_p.S152C	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GACGAGCCCTCCTTCAGCGAC	0.756																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(454-456)tCc>tGc		eukaryotic translation initiation factor 3, subunit B							5	4	4					7																	2395011		1702	3433	5135	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2395011C>G	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"RNA binding motif (RRM) containing"	3280	protein-coding gene	gene with protein product		603917	"eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.455C>G	7.37:g.2395011C>G	ENSP00000354125:p.Ser152Cys		Somatic				EIF3B_ENST00000397011.2_Missense_Mutation_p.S152C	p.S152C	NM_001037283.1	NP_001032360.1	WXS	Illumina GAIIx	Phase_I	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	1	511	+		Ovarian(82;0.0253)	152			Sufficient for interaction with EIF3E.			Missense_Mutation	SNP	ENST00000360876.4	37	c.455C>G	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749932	0.49257	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000413917;ENST00000397011;ENST00000489558	T;T;T	0.51325	0.71;0.71;0.71	3.65	3.65	0.41850	.	0.060566	0.64402	D	0.000002	T	0.55768	0.1941	L	0.52905	1.665	0.49213	D	0.999766	D;D	0.76494	0.999;0.997	P;P	0.59825	0.864;0.808	T	0.58994	-0.7537	10	0.72032	D	0.01	-13.0808	9.3978	0.38412	0.0:0.9005:0.0:0.0995	.	113;152	A4D210;P55884	.;EIF3B_HUMAN	C	152;152;113;152;76	ENSP00000354125:S152C;ENSP00000407785:S113C;ENSP00000380206:S152C	ENSP00000316638:S152C	S	+	2	0	EIF3B	2361537	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	4.895000	0.63214	1.852000	0.53769	0.563000	0.77884	TCC		0.756	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			3	15	0	0	0	1	0	3	15					G	2395011	C	G	2395011	3	3	37	1	0	0	0	0	1	0	0	0	5015	855	30	2	457	2	EIF3B	7	2395011	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	206216	2395011	156743652	142	3506										
SDK1	221935	broad.mit.edu	37	chr7	4050669	4050669	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tcaccgtgagtggcctgactCcggctcgtacctatcaattc	9	14	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:4050669C>G	ENST00000404826.2	+	15	2342	c.2203C>G	c.(2203-2205)Ccg>Gcg	p.P735A	SDK1_ENST00000389531.3_Missense_Mutation_p.P735A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	735	Fibronectin type-III 1. {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)		TGGCCTGACTCCGGCTCGTAC	0.572																																						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.(2203-2205)Ccg>Gcg		sidekick cell adhesion molecule 1							61	55	57					7																	4050669		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4050669C>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.2203C>G	7.37:g.4050669C>G	ENSP00000385899:p.Pro735Ala		Somatic				SDK1_ENST00000389531.3_Missense_Mutation_p.P735A	p.P735A	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)	15	2342	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	735			Fibronectin type-III 1.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.2203C>G	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736382	0.69189	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.66638	-0.22;-0.22	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.82318	0.5011	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78272	-0.2268	10	0.19147	T	0.46	.	19.5219	0.95189	0.0:1.0:0.0:0.0	.	735;735	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	A	735	ENSP00000385899:P735A;ENSP00000374182:P735A	ENSP00000374182:P735A	P	+	1	0	SDK1	4017195	1.000000	0.71417	0.800000	0.32199	0.888000	0.51559	7.385000	0.79763	2.606000	0.88127	0.655000	0.94253	CCG		0.572	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		4	45	0	0	0	1	0	4	45					G	4050669	C	G	4050669	3	3	37	1	0	0	0	0	1	0	0	0	13983	855	30	2	2261	2	SDK1	7	4050669	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	1655658	4050669	155087994	143	3507										
RAC1	5879	broad.mit.edu	37	chr7	6431634	6431634	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gggatacagctggacaagaaGattatgacagattacgcccc	11	9	0	4			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:6431634G>C	ENST00000348035.4	+	3	400	c.187G>C	c.(187-189)Gat>Cat	p.D63H	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.D63H	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	63			D -> G (in dbSNP:rs5831).		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)			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)	TGGACAAGAAGATTATGACAG	0.393																																						ENST00000348035.4																			0				cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(187-189)Gat>Cat		ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	Pravastatin(DB00175)|Simvastatin(DB00641)						121	118	119					7																	6431634		2203	4300	6503	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.chr7:6431634G>C	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.187G>C	7.37:g.6431634G>C	ENSP00000258737:p.Asp63His		Somatic				RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.D63H	p.D63H	NM_006908.4	NP_008839.2	WXS	Illumina GAIIx	Phase_I	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	3	400	+		Ovarian(82;0.0776)	63		D -> G (in dbSNP:rs5831).			O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.187G>C	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860972	0.91433	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	T;T	0.77489	-1.1;-1.1	5.29	5.29	0.74685	Small GTP-binding protein domain (1);	0.094441	0.64402	D	0.000001	D	0.91808	0.7408	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.93736	0.7046	10	0.87932	D	0	.	19.3003	0.94141	0.0:0.0:1.0:0.0	.	63;63	P63000;A4D2P0	RAC1_HUMAN;.	H	63	ENSP00000258737:D63H;ENSP00000348461:D63H	ENSP00000258737:D63H	D	+	1	0	RAC1	6398159	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.809000	0.99208	2.634000	0.89283	0.650000	0.86243	GAT		0.393	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		38	59	0	0	0	1	0	38	59					C	6431634	G	C	6431634	3	2	37	1	0	0	0	0	1	0	0	0	12989	942	33	2	197	2	RAC1	7	6431634	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	2380965	6431634	152707029	144	3508										
RAC1	5879	broad.mit.edu	37	chr7	6441993	6441993	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gcgctcacacagcgaggcctCaagacagtgtttgacgaagc	12	12	2	2	rs61753123	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:6441993C>T	ENST00000348035.4	+	6	708	c.495C>T	c.(493-495)ctC>ctT	p.L165L	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Silent_p.L184L	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	165					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)			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)	AGCGAGGCCTCAAGACAGTGT	0.547																																						ENST00000348035.4																			0				cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(493-495)ctC>ctT		ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	Pravastatin(DB00175)|Simvastatin(DB00641)						123	103	110					7																	6441993		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:6441993C>T	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.495C>T	7.37:g.6441993C>T			Somatic				RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Silent_p.L184L	p.L165L	NM_006908.4	NP_008839.2	WXS	Illumina GAIIx	Phase_I	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	6	708	+		Ovarian(82;0.0776)	165					O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Silent	SNP	ENST00000348035.4	37	c.495C>T	CCDS5348.1																																																																																				0.547	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		7	92	0	0	0	1	0	7	92					T	6441993	C	T	6441993	2	4	37	1	0	0	0	0	0	0	0	1	12989	813	29	3		3	RAC1	7	6441993	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	10359	6441993	152696670	145	3509										
MEOX2	4223	broad.mit.edu	37	chr7	15725701	15725701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cctccagagtcgggctggagGcagaggctgtgccgagccgc	17	13	0	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:15725701G>A	ENST00000262041.5	-	1	736	c.327C>T	c.(325-327)tgC>tgT	p.C109C	AC005550.4_ENST00000442176.1_lincRNA|AC005550.5_ENST00000438923.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	109					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)			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)		CGGGCTGGAGGCAGAGGCTGT	0.672																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	ENST00000262041.5																			0				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.(325-327)tgC>tgT		mesenchyme homeobox 2							11	14	13					7																	15725701		2183	4265	6448	SO:0001819	synonymous_variant	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15725701G>A		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.327C>T	7.37:g.15725701G>A			Somatic					p.C109C	NM_005924.4	NP_005915.2	WXS	Illumina GAIIx	Phase_I	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	1	736	-			109					B2R8I7|O75263|Q9UPL6	Silent	SNP	ENST00000262041.5	37	c.327C>T	CCDS34605.1																																																																																				0.672	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		3	16	0	0	0	1	0	3	16					A	15725701	G	A	15725701	2	1	37	1	0	0	0	0	0	0	0	1	9483	1195	42	3		3	MEOX2	7	15725701	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	9283708	15725701	143412962	146	3510										
AGR3	155465	broad.mit.edu	37	chr7	16901059	16901059	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	atcaggtgataaattcttatCagtggtttcatgctagcagg	10	6	4	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:16901059C>G	ENST00000310398.2	-	6	386	c.316G>C	c.(316-318)Gat>Cat	p.D106H	AGR3_ENST00000402239.3_Missense_Mutation_p.D106H	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	106						extracellular region (GO:0005576)	dystroglycan binding (GO:0002162)			central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		AAATTCTTATCAGTGGTTTCA	0.318																																						ENST00000310398.2																			0				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13						c.(316-318)Gat>Cat		anterior gradient 3							116	114	115					7																	16901059		2203	4297	6500	SO:0001583	missense	155465					extracellular region		g.chr7:16901059C>G	AY069977	CCDS5365.1	7p21.1	2013-07-31	2013-07-31		ENSG00000173467	ENSG00000173467		"Protein disulfide isomerases"	24167	protein-coding gene	gene with protein product	"breast cancer membrane protein 11", "protein disulfide isomerase family A, member 18"	609482	"anterior gradient 3 homolog (Xenopus laevis)"			12592373, 12477722	Standard	NM_176813		Approved	HAG3, hAG-3, BCMP11, PDIA18	uc003sts.3	Q8TD06	OTTHUMG00000128411	ENST00000310398.2:c.316G>C	7.37:g.16901059C>G	ENSP00000308606:p.Asp106His		Somatic				AGR3_ENST00000402239.3_Missense_Mutation_p.D106H	p.D106H	NM_176813.3	NP_789783.1	WXS	Illumina GAIIx	Phase_I	Q8TD06	AGR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.184)	6	386	-	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)		106					A4D120	Missense_Mutation	SNP	ENST00000310398.2	37	c.316G>C	CCDS5365.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.60|18.60	3.658920|3.658920	0.67586|0.67586	.|.	.|.	ENSG00000173467|ENSG00000173467	ENST00000310398;ENST00000402239|ENST00000414935	T;T|.	0.47177|.	0.85;0.85|.	4.81|4.81	4.81|4.81	0.61882|0.61882	Thioredoxin-like fold (2);|.	0.000000|.	0.64402|.	D|.	0.000015|.	D|.	0.83635|.	0.5297|.	M|M	0.89414|0.89414	3.03|3.03	0.49915|0.49915	D|D	0.999838|0.999838	D|.	0.89917|.	1.0|.	D|.	0.73708|.	0.981|.	D|.	0.87055|.	0.2149|.	10|.	0.56958|.	D|.	0.05|.	0.2005|0.2005	17.4945|17.4945	0.87713|0.87713	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	106|.	Q8TD06|.	AGR3_HUMAN|.	H|S	106|84	ENSP00000308606:D106H;ENSP00000386016:D106H|.	ENSP00000308606:D106H|.	D|X	-|-	1|2	0|2	AGR3|AGR3	16867584|16867584	1.000000|1.000000	0.71417|0.71417	0.888000|0.888000	0.34837|0.34837	0.891000|0.891000	0.51852|0.51852	5.862000|5.862000	0.69560|0.69560	2.223000|2.223000	0.72356|0.72356	0.655000|0.655000	0.94253|0.94253	GAT|TGA		0.318	AGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250191.2	NM_176813		5	53	0	0	0	1	0	5	53					G	16901059	C	G	16901059	3	3	37	1	0	0	0	0	1	0	0	0	396	826	29	2	196	2	AGR3	7	16901059	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	1175358	16901059	142237604	147	3511										
TRA2A	29896	broad.mit.edu	37	chr7	23561449	23561449	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ccgttggagattttgactgaGagcgagactcctaacaaaga	11	8	0	5			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:23561449G>C	ENST00000297071.4	-	2	263	c.47C>G	c.(46-48)tCt>tGt	p.S16C	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	16					mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TTTTGACTGAGAGCGAGACTC	0.418																																					Pancreas(121;2137 2973 46590)	ENST00000297071.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(46-48)tCt>tGt		transformer 2 alpha homolog (Drosophila)							78	72	74					7																	23561449		2203	4300	6503	SO:0001583	missense	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23561449G>C	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"RNA binding motif (RRM) containing"	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.47C>G	7.37:g.23561449G>C	ENSP00000297071:p.Ser16Cys		Somatic				TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	p.S16C	NM_013293.3	NP_037425.1	WXS	Illumina GAIIx	Phase_I	Q13595	TRA2A_HUMAN			2	263	-			16					B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	c.47C>G	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070465	0.76301	.	.	ENSG00000164548	ENST00000297071	T	0.38401	1.14	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	L	0.61218	1.895	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	T	0.57329	-0.7830	10	0.52906	T	0.07	-7.4374	19.9068	0.97010	0.0:0.0:1.0:0.0	.	16	Q13595	TRA2A_HUMAN	C	16	ENSP00000297071:S16C	ENSP00000297071:S16C	S	-	2	0	TRA2A	23527974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.497000	0.97970	2.718000	0.92993	0.585000	0.79938	TCT		0.418	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		4	50	0	0	0	1	0	4	50					C	23561449	G	C	23561449	3	2	37	1	0	0	0	0	1	0	0	0	16448	942	33	2	829	2	TRA2A	7	23561449	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	6660390	23561449	135577214	148	3512										
PLEKHA8	84725	broad.mit.edu	37	chr7	30088967	30088967	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctaccgcactccaccaggatCacctcagctggccatgctca	7	18	3	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:30088967C>T	ENST00000449726.1	+	5	916	c.566C>T	c.(565-567)tCa>tTa	p.S189L	PLEKHA8_ENST00000396259.1_Missense_Mutation_p.S189L|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.S189L|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.S189L	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	189					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						CCACCAGGATCACCTCAGCTG	0.458																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(565-567)tCa>tTa		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							131	118	123					7																	30088967		2203	4300	6503	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30088967C>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.566C>T	7.37:g.30088967C>T	ENSP00000397947:p.Ser189Leu		Somatic				PLEKHA8_ENST00000258679.7_Missense_Mutation_p.S189L|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.S189L|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.S189L	p.S189L	NM_001197027.1	NP_001183956.1	WXS	Illumina GAIIx	Phase_I	Q96JA3	PKHA8_HUMAN			5	916	+			189					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.566C>T	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114303	0.94339	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	6.06	6.06	0.98353	.	0.063353	0.64402	D	0.000004	T	0.76933	0.4057	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.993;0.996	D;D;D;P	0.85130	0.997;0.991;0.91;0.766	T	0.74740	-0.3563	9	0.49607	T	0.09	-18.977	19.1847	0.93639	0.0:1.0:0.0:0.0	.	189;189;189;189	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	L	189;189;189;189;215	.	ENSP00000258679:S189L	S	+	2	0	PLEKHA8	30055492	1.000000	0.71417	0.472000	0.27241	0.992000	0.81027	7.717000	0.84732	2.882000	0.98803	0.655000	0.94253	TCA		0.458	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		8	91	0	0	0	1	0	8	91					T	30088967	C	T	30088967	3	4	37	1	0	0	0	0	1	0	0	0	12071	838	29	3	584	3	PLEKHA8	7	30088967	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	6527518	30088967	129049696	149	3513										
SFRP4	6424	broad.mit.edu	37	chr7	37951728	37951728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tctttgtgcctaccttgagcGccactcgtaacacatgatga	8	12	1	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:37951728G>A	ENST00000436072.2	-	4	1161	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	262	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TACCTTGAGCGCCACTCGTAA	0.443																																						ENST00000436072.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(784-786)Cgc>Tgc		secreted frizzled-related protein 4							160	151	154					7																	37951728		2203	4300	6503	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37951728G>A	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"Secreted frizzled-related proteins"	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.784C>T	7.37:g.37951728G>A	ENSP00000410715:p.Arg262Cys		Somatic				EPDR1_ENST00000476620.1_Intron	p.R262C	NM_003014.3	NP_003005.2	WXS	Illumina GAIIx	Phase_I	Q6FHJ7	SFRP4_HUMAN			4	1161	-			262			NTR.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.784C>T	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152606	0.78001	.	.	ENSG00000106483	ENST00000436072;ENST00000446575;ENST00000447200	T;T	0.32515	1.45;1.45	5.72	5.72	0.89469	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.158648	0.53938	D	0.000054	T	0.53351	0.1791	L	0.55990	1.75	0.58432	D	0.999997	D	0.89917	1.0	D	0.76071	0.987	T	0.52381	-0.8583	10	0.87932	D	0	.	18.6559	0.91453	0.0:0.0:1.0:0.0	.	262	Q6FHJ7	SFRP4_HUMAN	C	262;259;128	ENSP00000410715:R262C;ENSP00000402262:R128C	ENSP00000410715:R262C	R	-	1	0	SFRP4	37918253	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.138000	0.64795	2.684000	0.91462	0.650000	0.86243	CGC		0.443	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		7	61	0	0	0	1	0	7	61					A	37951728	G	A	37951728	3	1	37	1	0	0	0	0	1	0	0	0	14178	1087	38	1	268	1	SFRP4	7	37951728	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	7862761	37951728	121186935	150	3514										
NPC1L1	29881	broad.mit.edu	37	chr7	44571714	44571714	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gatccagtgcagcaggaaggGggcataagccttttggaaga	15	7	0	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:44571714G>C	ENST00000289547.4	-	9	2567	c.2512C>G	c.(2512-2514)Ccc>Gcc	p.P838A	NPC1L1_ENST00000381160.3_Missense_Mutation_p.P838A|NPC1L1_ENST00000546276.1_Missense_Mutation_p.P838A	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	838					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)	AGCAGGAAGGGGGCATAAGCC	0.642																																						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.(2512-2514)Ccc>Gcc		NPC1-like 1	Ezetimibe(DB00973)						69	65	66					7																	44571714		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.chr7:44571714G>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.2512C>G	7.37:g.44571714G>C	ENSP00000289547:p.Pro838Ala		Somatic				NPC1L1_ENST00000546276.1_Missense_Mutation_p.P838A|NPC1L1_ENST00000381160.3_Missense_Mutation_p.P838A	p.P838A	NM_013389.2	NP_037521.2	WXS	Illumina GAIIx	Phase_I	Q9UHC9	NPCL1_HUMAN			9	2567	-			838					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.2512C>G	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	g	14.02	2.411561	0.42817	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.94931	-3.55;-3.55;-3.56	4.29	4.29	0.51040	.	0.000000	0.85682	U	0.000000	D	0.97583	0.9208	M	0.91561	3.22	0.52501	D	0.99995	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.991;0.991;0.999	D	0.98231	1.0483	10	0.59425	D	0.04	-26.1315	14.215	0.65788	0.0:0.0:1.0:0.0	.	838;838;838	B7ZLE6;Q17RV5;D3DVK9	.;.;.	A	838	ENSP00000289547:P838A;ENSP00000370552:P838A;ENSP00000438033:P838A	ENSP00000289547:P838A	P	-	1	0	NPC1L1	44538239	1.000000	0.71417	0.031000	0.17742	0.090000	0.18270	7.523000	0.81856	1.906000	0.55180	0.313000	0.20887	CCC		0.642	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		25	71	0	0	0	1	0	25	71					C	44571714	G	C	44571714	3	2	37	1	0	0	0	0	1	0	0	0	10580	1232	43	5	1615	5	NPC1L1	7	44571714	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	6619986	44571714	114566949	151	3515										
EIF4H	7458	broad.mit.edu	37	chr7	73588769	73588769	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cagcagcttcggcggcggcaGagggtgaggcgggcgtgcgc	21	11	0	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:73588769G>A	ENST00000265753.8	+	1	195	c.56G>A	c.(55-57)aGa>aAa	p.R19K	EIF4H_ENST00000353999.6_Missense_Mutation_p.R19K	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	19					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						GGCGGCGGCAGAGGGTGAGGC	0.746																																						ENST00000265753.8																			0				endometrium(1)|lung(2)|prostate(1)	4						c.(55-57)aGa>aAa		eukaryotic translation initiation factor 4H							17	17	17					7																	73588769		2200	4292	6492	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.chr7:73588769G>A		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.56G>A	7.37:g.73588769G>A	ENSP00000265753:p.Arg19Lys		Somatic				EIF4H_ENST00000353999.6_Missense_Mutation_p.R19K	p.R19K	NM_022170.1	NP_071496.1	WXS	Illumina GAIIx	Phase_I	Q15056	IF4H_HUMAN			1	195	+			19					A8K3R1|D3DXF6|D3DXF8	Missense_Mutation	SNP	ENST00000265753.8	37	c.56G>A	CCDS5564.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854929	0.91355	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	T;T	0.33865	1.4;1.39	4.1	3.19	0.36642	.	0.141163	0.44902	U	0.000410	T	0.28366	0.0701	L	0.61218	1.895	0.51482	D	0.999923	P;P;B;B	0.42584	0.784;0.533;0.001;0.003	B;B;B;B	0.28916	0.064;0.096;0.009;0.004	T	0.09840	-1.0656	10	0.22706	T	0.39	0.0062	12.8038	0.57601	0.0:0.1661:0.8339:0.0	.	19;19;19;19	B4DMV6;Q75MU2;Q15056-2;Q15056	.;.;.;IF4H_HUMAN	K	19	ENSP00000265753:R19K;ENSP00000265754:R19K	ENSP00000265753:R19K	R	+	2	0	EIF4H	73226705	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.737000	0.62066	0.797000	0.33971	0.462000	0.41574	AGA		0.746	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		5	22	0	0	0	1	0	5	22					A	73588769	G	A	73588769	3	1	37	1	0	0	0	0	1	0	0	0	5041	942	33	3	58	3	EIF4H	7	73588769	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	29017055	73588769	85549894	152	3516										
SLC25A40	55972	broad.mit.edu	37	chr7	87465580	87465580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	atcactagtattgctgccttCgaacattttgtttctggaaa	7	8	2	0	rs146277655		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:87465580C>T	ENST00000341119.5	-	12	1347	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	334					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TTGCTGCCTTCGAACATTTTG	0.368																																						ENST00000341119.5																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17						c.(1000-1002)cGa>cAa		solute carrier family 25, member 40		C	GLN/ARG	0,4406		0,0,2203	53	53	53		1001	-8.8	0	7	dbSNP_134	53	1,8597	1.2+/-3.3	0,1,4298	no	missense	SLC25A40	NM_018843.3	43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	334/339	87465580	1,13003	2203	4299	6502	SO:0001583	missense	55972				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr7:87465580C>T	AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"Solute carriers"	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.1001G>A	7.37:g.87465580C>T	ENSP00000344831:p.Arg334Gln		Somatic					p.R334Q	NM_018843.3	NP_061331.2	WXS	Illumina GAIIx	Phase_I	Q8TBP6	S2540_HUMAN			12	1347	-	Esophageal squamous(14;0.00202)		334					A8K483|D6W5P6|Q53GB1|Q9UHR1	Missense_Mutation	SNP	ENST00000341119.5	37	c.1001G>A	CCDS5610.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787306	0.31593	0.0	1.16E-4	ENSG00000075303	ENST00000341119	T	0.80738	-1.41	5.63	-8.79	0.00820	.	1.295420	0.04979	N	0.465233	T	0.65657	0.2712	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53865	-0.8378	10	0.22109	T	0.4	.	21.9023	0.99963	0.0:0.1554:0.0:0.8446	.	334	Q8TBP6	S2540_HUMAN	Q	334	ENSP00000344831:R334Q	ENSP00000344831:R334Q	R	-	2	0	SLC25A40	87303516	0.000000	0.05858	0.000000	0.03702	0.446000	0.32137	0.179000	0.16840	-2.042000	0.00914	-0.355000	0.07637	CGA		0.368	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843		3	30	0	0	0	1	0	3	30					T	87465580	C	T	87465580	3	4	37	1	0	0	0	0	1	0	0	0	14520	884	31	1	19	1	SLC25A40	7	87465580	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	13876811	87465580	71673083	153	3517										
SAMD9L	219285	broad.mit.edu	37	chr7	92765171	92765171	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aatcctgttacttcttcactGagcagaatttgcccgtattg	7	10	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:92765171G>A	ENST00000318238.4	-	5	1330	c.114C>T	c.(112-114)ctC>ctT	p.L38L	SAMD9L_ENST00000437805.1_Silent_p.L38L|SAMD9L_ENST00000411955.1_Silent_p.L38L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	38	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTCTTCACTGAGCAGAATTT	0.398																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(112-114)ctC>ctT		sterile alpha motif domain containing 9-like							118	118	118					7																	92765171		2203	4300	6503	SO:0001819	synonymous_variant	219285							g.chr7:92765171G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.114C>T	7.37:g.92765171G>A			Somatic				SAMD9L_ENST00000437805.1_Silent_p.L38L|SAMD9L_ENST00000411955.1_Silent_p.L38L	p.L38L	NM_152703.2	NP_689916.2	WXS	Illumina GAIIx	Phase_I	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	1330	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		38			SAM.		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.114C>T	CCDS34681.1																																																																																				0.398	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		4	85	0	0	0	1	0	4	85					A	92765171	G	A	92765171	2	1	37	1	0	0	0	0	0	0	0	1	13842	1277	45	3		3	SAMD9L	7	92765171	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	5299591	92765171	66373492	154	3518										
ZSCAN21	7589	broad.mit.edu	37	chr7	99661659	99661659	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	agagacgttatatatgtgctGaatgtggcaaagcctttagt	11	5	0	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:99661659G>A	ENST00000292450.4	+	4	1005	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000543588.1_Intron|ZSCAN21_ENST00000456748.2_Intron|ZSCAN21_ENST00000477297.1_Intron	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	281					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TATATGTGCTGAATGTGGCAA	0.453																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(841-843)Gaa>Aaa		zinc finger and SCAN domain containing 21							73	70	71					7																	99661659		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99661659G>A	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"-", "Zinc fingers, C2H2-type"	13104	protein-coding gene	gene with protein product		601261	"zinc finger protein 38 (KOX 25)", "zinc finger protein 38"	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.841G>A	7.37:g.99661659G>A	ENSP00000292450:p.Glu281Lys		Somatic				ZSCAN21_ENST00000456748.2_Intron|ZSCAN21_ENST00000543588.1_Intron|ZSCAN21_ENST00000477297.1_Intron|ZNF3_ENST00000413658.2_3'UTR	p.E281K	NM_145914.2	NP_666019.1	WXS	Illumina GAIIx	Phase_I	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		4	1005	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		281					A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.841G>A	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813993	0.50527	.	.	ENSG00000166529	ENST00000292450;ENST00000379635	T	0.07327	3.2	4.61	4.61	0.57282	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42548	D	0.000693	T	0.13329	0.0323	M	0.64567	1.98	0.80722	D	1	P	0.49862	0.929	B	0.43360	0.417	T	0.01452	-1.1351	10	0.54805	T	0.06	.	15.3593	0.74457	0.0:0.0:1.0:0.0	.	281	Q9Y5A6	ZSC21_HUMAN	K	281;256	ENSP00000292450:E281K	ENSP00000292450:E281K	E	+	1	0	ZSCAN21	99499595	0.167000	0.22975	0.997000	0.53966	0.959000	0.62525	1.357000	0.34090	2.571000	0.86741	0.655000	0.94253	GAA		0.453	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		6	70	0	0	0	1	0	6	70					A	99661659	G	A	99661659	3	1	37	1	0	0	0	0	1	0	0	0	18248	1291	45	3	851	3	ZSCAN21	7	99661659	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	6896488	99661659	59477004	155	3519										
CNPY4	245812	broad.mit.edu	37	chr7	99722164	99722164	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ccatgttggaggagtttgaaGacattgtgggagactggtac	15	5	0	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:99722164G>C	ENST00000262932.3	+	5	625	c.493G>C	c.(493-495)Gac>Cac	p.D165H	CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA|MBLAC1_ENST00000398075.2_5'Flank	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	165	Glu-rich.					extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGAGTTTGAAGACATTGTGGG	0.512																																						ENST00000262932.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(493-495)Gac>Cac		canopy FGF signaling regulator 4							105	106	105					7																	99722164		2203	4300	6503	SO:0001583	missense	245812					extracellular region		g.chr7:99722164G>C	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"protein associated with TLR4"	610047	"canopy 4 homolog (zebrafish)"			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.493G>C	7.37:g.99722164G>C	ENSP00000262932:p.Asp165His		Somatic				CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	p.D165H	NM_152755.1	NP_689968.1	WXS	Illumina GAIIx	Phase_I	Q8N129	CNPY4_HUMAN			5	625	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		165			Glu-rich.		Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	37	c.493G>C	CCDS34701.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605970	0.87157	.	.	ENSG00000166997	ENST00000262932	T	0.52526	0.66	5.94	5.94	0.96194	.	0.100555	0.64402	D	0.000002	T	0.62514	0.2434	L	0.46157	1.445	0.54753	D	0.999986	D	0.89917	1.0	D	0.72982	0.979	T	0.61446	-0.7061	10	0.59425	D	0.04	-19.282	15.8634	0.79043	0.0:0.0:1.0:0.0	.	165	Q8N129	CNPY4_HUMAN	H	165	ENSP00000262932:D165H	ENSP00000262932:D165H	D	+	1	0	CNPY4	99560100	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	7.907000	0.87430	2.826000	0.97356	0.561000	0.74099	GAC		0.512	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		12	79	0	0	0	1	0	12	79					C	99722164	G	C	99722164	3	2	37	1	0	0	0	0	1	0	0	0	3632	942	33	2	511	2	CNPY4	7	99722164	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	60505	99722164	59416499	156	3520										
CNPY4	245812	broad.mit.edu	37	chr7	99722494	99722494	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	caggaagccaccccaaacttGaccgagaagatctttgaccc	8	14	1	4			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:99722494G>A	ENST00000262932.3	+	6	862	c.730G>A	c.(730-732)Gac>Aac	p.D244N	CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA|MBLAC1_ENST00000398075.2_5'Flank	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	244						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCAAACTTGACCGAGAAGA	0.557																																						ENST00000262932.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(730-732)Gac>Aac		canopy FGF signaling regulator 4							154	141	146					7																	99722494		2203	4300	6503	SO:0001583	missense	245812					extracellular region		g.chr7:99722494G>A	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"protein associated with TLR4"	610047	"canopy 4 homolog (zebrafish)"			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.730G>A	7.37:g.99722494G>A	ENSP00000262932:p.Asp244Asn		Somatic				CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	p.D244N	NM_152755.1	NP_689968.1	WXS	Illumina GAIIx	Phase_I	Q8N129	CNPY4_HUMAN			6	862	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		244					Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	37	c.730G>A	CCDS34701.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909072	0.33721	.	.	ENSG00000166997	ENST00000262932	T	0.35605	1.3	4.17	3.29	0.37713	.	0.000000	0.64402	D	0.000001	T	0.23572	0.0570	L	0.29908	0.895	0.32796	N	0.500483	B	0.13145	0.007	B	0.08055	0.003	T	0.18555	-1.0333	10	0.34782	T	0.22	-17.3872	8.1282	0.31012	0.1084:0.0:0.8916:0.0	.	244	Q8N129	CNPY4_HUMAN	N	244	ENSP00000262932:D244N	ENSP00000262932:D244N	D	+	1	0	CNPY4	99560430	1.000000	0.71417	0.993000	0.49108	0.013000	0.08279	3.175000	0.50855	1.359000	0.45940	0.561000	0.74099	GAC		0.557	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		11	158	0	0	0	1	0	11	158					A	99722494	G	A	99722494	3	1	37	1	0	0	0	0	1	0	0	0	3632	1290	45	3	752	3	CNPY4	7	99722494	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	330	99722494	59416169	157	3521										
MUC17	140453	broad.mit.edu	37	chr7	100683260	100683260	+	Missense_Mutation	SNP	G	G	A													0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gttcatctcctacaactgctGaaggtatcgtcgtgccaatc							TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:100683260G>A	ENST00000306151.4	+	3	8627	c.8563G>A	c.(8563-8565)Gaa>Aaa	p.E2855K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2855	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)					TACAACTGCTGAAGGTATCGT	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.(8563-8565)Gaa>Aaa		mucin 17, cell surface associated							254	261	259					7																	100683260		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683260G>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.8563G>A	7.37:g.100683260G>A	ENSP00000302716:p.Glu2855Lys		Somatic					p.E2855K	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	8627	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2855			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8563G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	8.378	0.836910	0.16891	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	1.06	0.0971	0.14493	.	.	.	.	.	T	0.02767	0.0083	N	0.24115	0.695	0.09310	N	1	P	0.46578	0.88	P	0.50270	0.636	T	0.30238	-0.9985	9	0.07482	T	0.82	.	5.6042	0.17371	0.2127:0.0:0.7873:0.0	.	2855	Q685J3	MUC17_HUMAN	K	2855	ENSP00000302716:E2855K	ENSP00000302716:E2855K	E	+	1	0	MUC17	100469980	0.002000	0.14202	0.001000	0.08648	0.019000	0.09904	0.850000	0.27737	0.033000	0.15463	0.134000	0.15878	GAA		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	586	0	0	0	1	0	8	586					A	100683260	G	A	100683260	3	1	37	1	0	0	0	0	1	0	0	0	9983	1291	45	3	8573	3	MUC17	7	100683260	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	960766	100683260	58455403	158	3522	13	2								
MUC17	140453	broad.mit.edu	37	chr7	100683261	100683261	+	Missense_Mutation	SNP	A	A	T													0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttcatctcctacaactgctgAaggtatcgtcgtgccaatct							TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:100683261A>T	ENST00000306151.4	+	3	8628	c.8564A>T	c.(8563-8565)gAa>gTa	p.E2855V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2855	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)					ACAACTGCTGAAGGTATCGTC	0.512																																						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.(8563-8565)gAa>gTa		mucin 17, cell surface associated							256	262	260					7																	100683261		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683261A>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.8564A>T	7.37:g.100683261A>T	ENSP00000302716:p.Glu2855Val		Somatic					p.E2855V	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	8628	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2855			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8564A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	5.908	0.351612	0.11182	.	.	ENSG00000169876	ENST00000306151	T	0.02763	4.17	1.06	-2.12	0.07165	.	.	.	.	.	T	0.03390	0.0098	N	0.24115	0.695	0.09310	N	1	P	0.51653	0.947	P	0.55965	0.788	T	0.29579	-1.0007	9	0.30078	T	0.28	.	2.3193	0.04207	0.3168:0.0:0.2799:0.4033	.	2855	Q685J3	MUC17_HUMAN	V	2855	ENSP00000302716:E2855V	ENSP00000302716:E2855V	E	+	2	0	MUC17	100469981	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.419000	0.01033	-1.193000	0.02688	0.113000	0.15668	GAA		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	595	0	0	0	1	0	6	595					T	100683261	A	T	100683261	3	4	37	1	0	0	0	0	1	0	0	0	9983	246	9	4	8574	4	MUC17	7	100683261	Missense_Mutation	SNP	A	TCGA-N9-A4Q7-01A-11D-A28R-08	1	100683261	58455402	159	3523	13	2								
POLR2J3	548644	broad.mit.edu	37	chr7	102212948	102212948	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tcgaagagcaagaacgactcGaaggctggaggggcgttcat	15	8	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:102212948G>C	ENST00000511313.1	-	1	82	c.21C>G	c.(19-21)ttC>ttG	p.F7L	POLR2J3_ENST00000513438.1_Missense_Mutation_p.F7L|RP11-514P8.7_ENST00000514917.2_Intron|POLR2J3_ENST00000504157.1_5'UTR			Q9H1A7	RPB1C_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J3	7					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)										AGAACGACTCGAAGGCTGGAG	0.667																																						ENST00000511313.1																			0											c.(19-21)ttC>ttG		polymerase (RNA) II (DNA directed) polypeptide J3							41	42	42					7																	102212948		2174	4198	6372	SO:0001583	missense	548644					nucleus	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr7:102212948G>C		CCDS47673.1	7q22.1	2013-01-21			ENSG00000168255	ENSG00000168255		"RNA polymerase subunits"	33853	protein-coding gene	gene with protein product						15586814	Standard	NM_001097615		Approved		uc010lid.1	Q9H1A7	OTTHUMG00000150384	ENST00000511313.1:c.21C>G	7.37:g.102212948G>C	ENSP00000422109:p.Phe7Leu		Somatic				RP11-514P8.7_ENST00000514917.2_Intron|POLR2J3_ENST00000504157.1_5'UTR|POLR2J3_ENST00000513438.1_Missense_Mutation_p.F7L	p.F7L			WXS	Illumina GAIIx	Phase_I	Q9GZM3	RPB1B_HUMAN			1	82	-			7					A6NKA1	Missense_Mutation	SNP	ENST00000511313.1	37	c.21C>G		.	.	.	.	.	.	.	.	.	.	g	16.06	3.015917	0.54468	.	.	ENSG00000168255	ENST00000513506;ENST00000511313;ENST00000513438	D;D;D	0.92249	-3.0;-3.0;-3.0	0.976	-0.206	0.13193	DNA-directed RNA polymerase, RBP11-like (1);	0.000000	0.85682	D	0.000000	D	0.95220	0.8450	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90599	0.4543	10	0.62326	D	0.03	.	4.9427	0.13975	0.4403:0.0:0.5597:0.0	.	7	Q9GZM3	RPB1B_HUMAN	L	7	ENSP00000421085:F7L;ENSP00000422109:F7L;ENSP00000421950:F7L	ENSP00000368645:F7L	F	-	3	2	POLR2J3	102000053	1.000000	0.71417	0.488000	0.27440	0.055000	0.15305	1.714000	0.37961	-1.096000	0.03046	-1.109000	0.02080	TTC		0.667	POLR2J3-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000358591.1	NM_001097615		8	233	0	0	0	1	0	8	233					C	102212948	G	C	102212948	3	2	37	1	0	0	0	0	1	0	0	0	12234	1049	37	2	342	2	POLR2J3	7	102212948	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	1529687	102212948	56925715	160	3524										
C7orf53	286006	broad.mit.edu	37	chr7	112129968	112129968	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aacatgatcgtaaagcgactCaaccaactcaaccaactgga	6	12	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:112129968C>T	ENST00000312849.4	+	4	721	c.360C>T	c.(358-360)ctC>ctT	p.L120L	LSMEM1_ENST00000486022.1_3'UTR|LSMEM1_ENST00000439068.2_Silent_p.L120L	NM_182597.2	NP_872403.1	Q8N8F7	LSME1_HUMAN	leucine-rich single-pass membrane protein 1	120						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TAAAGCGACTCAACCAACTCA	0.388																																						ENST00000312849.4																			0											c.(358-360)ctC>ctT		leucine-rich single-pass membrane protein 1							165	153	157					7																	112129968		2203	4300	6503	SO:0001819	synonymous_variant	286006							g.chr7:112129968C>T	AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016			22036	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 53"	C7orf53			Standard	NM_182597		Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.360C>T	7.37:g.112129968C>T			Somatic				LSMEM1_ENST00000486022.1_3'UTR|LSMEM1_ENST00000439068.2_Silent_p.L120L	p.L120L	NM_182597.2	NP_872403.1	WXS	Illumina GAIIx	Phase_I					4	721	+								Q49AR6	Silent	SNP	ENST00000312849.4	37	c.360C>T	CCDS5756.1																																																																																				0.388	LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338716.2	NM_182597		5	169	0	0	0	1	0	5	169					T	112129968	C	T	112129968	2	4	37	1	0	0	0	0	0	0	0	1	2404	813	29	3		3	C7orf53	7	112129968	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	9917020	112129968	47008695	161	3525										
PTPRZ1	5803	broad.mit.edu	37	chr7	121652283	121652283	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	caaattccttctttcaatgaGatggtttacccttctgaaag	6	9	3	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:121652283G>C	ENST00000393386.2	+	12	3594	c.3183G>C	c.(3181-3183)gaG>gaC	p.E1061D	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>gaC		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							108	111	110					7																	121652283		2203	4300	6503	SO:0001583	missense	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>C	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>C	7.37:g.121652283G>C	ENSP00000377047:p.Glu1061Asp		Somatic				PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	p.E1061D	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	Missense_Mutation	SNP	ENST00000393386.2	37	c.3183G>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541432	0.27563	.	.	ENSG00000106278	ENST00000393386	T	0.46451	0.87	5.68	-0.532	0.11890	.	0.711573	0.13924	N	0.353387	T	0.19127	0.0459	N	0.05510	-0.035	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.08659	-1.0711	10	0.21540	T	0.41	.	8.3577	0.32340	0.1525:0.6864:0.1611:0.0	.	1061	P23471	PTPRZ_HUMAN	D	1061	ENSP00000377047:E1061D	ENSP00000377047:E1061D	E	+	3	2	PTPRZ1	121439519	0.546000	0.26457	0.837000	0.33122	0.986000	0.74619	0.641000	0.24720	0.004000	0.14682	0.650000	0.86243	GAG		0.348	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		10	83	0	0	0	1	0	10	83					C	121652283	G	C	121652283	3	2	37	1	0	0	0	0	1	0	0	0	12829	933	33	2	3229	2	PTPRZ1	7	121652283	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	9522315	121652283	37486380	162	3526										
TNPO3	23534	broad.mit.edu	37	chr7	128610355	128610356	+	Frame_Shift_Del	DEL	AA	AA	-													0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	atcagttctttccgtaattcAaagtcttcttcatgctgtat							TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:128610355_128610356delAA	ENST00000265388.5	-	20	2587_2588	c.2444_2445delTT	c.(2443-2445)tttfs	p.F815fs	RN7SL306P_ENST00000492941.2_RNA|TNPO3_ENST00000471234.1_Frame_Shift_Del_p.F751fs|TNPO3_ENST00000482320.1_Frame_Shift_Del_p.F749fs|TNPO3_ENST00000471166.1_Frame_Shift_Del_p.F849fs|TNPO3_ENST00000393245.1_Frame_Shift_Del_p.F849fs			Q9Y5L0	TNPO3_HUMAN	transportin 3	815					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TCCGTAATTCAAAGTCTTCTTC	0.455																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(2545-2547)tfs		transportin 3																																				SO:0001589	frameshift_variant	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128610355_128610356delAA	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2444_2445delTT	7.37:g.128610355_128610356delAA	ENSP00000265388:p.Phe815fs		Somatic				TNPO3_ENST00000482320.1_Frame_Shift_Del_p.F749fs|TNPO3_ENST00000471234.1_Frame_Shift_Del_p.F751fs|TNPO3_ENST00000471166.1_Frame_Shift_Del_p.F849fs|TNPO3_ENST00000265388.5_Frame_Shift_Del_p.F815fs	p.F849fs	NM_012470.3	NP_036602.1	WXS	Illumina GAIIx	Phase_I	Q9Y5L0	TNPO3_HUMAN			20	2919_2920	-			815					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Frame_Shift_Del	DEL	ENST00000265388.5	37	c.2546_2547delTT	CCDS5809.1																																																																																				0.455	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		49	177						49	177	---	---	---	---	-	128610356	AA	-	128610355	7	5	37	1	0	1	0	1	0	0	0	0	16352	127	5	0	338	0	TNPO3	7	128610355	Frame_Shift_Del	DEL	AA	TCGA-N9-A4Q7-01A-11D-A28R-08	6958072	128610355	30528308	163	3527										
TSGA13	114960	broad.mit.edu	37	chr7	130356587	130356587	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tcctcaaagcgtagacttttGaatacttcccttcgctcttg	6	12	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:130356587G>C	ENST00000456951.1	-	8	1423	c.572C>G	c.(571-573)tCa>tGa	p.S191*	TSGA13_ENST00000356588.3_Nonsense_Mutation_p.S191*|COPG2_ENST00000445977.2_5'Flank			Q96PP4	TSG13_HUMAN	testis specific, 13	191										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GTAGACTTTTGAATACTTCCC	0.423																																						ENST00000456951.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(571-573)tCa>tGa		testis specific, 13							187	178	181					7																	130356587		2203	4300	6503	SO:0001587	stop_gained	114960							g.chr7:130356587G>C	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.572C>G	7.37:g.130356587G>C	ENSP00000406047:p.Ser191*		Somatic				TSGA13_ENST00000356588.3_Nonsense_Mutation_p.S191*	p.S191*			WXS	Illumina GAIIx	Phase_I	Q96PP4	TSG13_HUMAN			8	1423	-	Melanoma(18;0.0435)		191					B3KSC9	Nonsense_Mutation	SNP	ENST00000456951.1	37	c.572C>G	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	G	36	5.853699	0.97030	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588	.	.	.	5.46	4.58	0.56647	.	0.000000	0.43110	D	0.000617	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-13.4278	10.1426	0.42744	0.0923:0.0:0.9077:0.0	.	.	.	.	X	191	.	ENSP00000348996:S191X	S	-	2	0	TSGA13	130007127	0.997000	0.39634	0.692000	0.30179	0.294000	0.27393	2.240000	0.43088	1.310000	0.45006	0.555000	0.69702	TCA		0.423	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		14	57	0	0	0	1	0	14	57					C	130356587	G	C	130356587	4	2	37	1	0	0	0	0	0	1	0	0	16634	1294	45	2	263	2	TSGA13	7	130356587	Nonsense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	1746232	130356587	28782076	164	3528										
CLCN1	1180	broad.mit.edu	37	chr7	143028681	143028681	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tgggagctgtatttgtgtatCtgcatcgccaagtcatgctc	11	9	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:143028681C>G	ENST00000343257.2	+	10	1189	c.1102C>G	c.(1102-1104)Ctg>Gtg	p.L368V		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	368					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.L368V(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATTTGTGTATCTGCATCGCCA	0.473																																						ENST00000343257.2																			1	Substitution - Missense(1)	p.L368V(1)	breast(1)	breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1102-1104)Ctg>Gtg		chloride channel, voltage-sensitive 1							134	119	124					7																	143028681		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143028681C>G	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1102C>G	7.37:g.143028681C>G	ENSP00000339867:p.Leu368Val		Somatic					p.L368V	NM_000083.2	NP_000074.2	WXS	Illumina GAIIx	Phase_I	P35523	CLCN1_HUMAN			10	1189	+	Melanoma(164;0.205)		368					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.1102C>G	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853853	0.32791	.	.	ENSG00000188037	ENST00000343257	D	0.95035	-3.59	5.12	2.32	0.28847	Chloride channel, core (2);	0.141955	0.48767	N	0.000170	D	0.90473	0.7016	M	0.62088	1.915	0.42496	D	0.992913	B	0.17038	0.02	B	0.25291	0.059	T	0.80982	-0.1139	10	0.32370	T	0.25	.	2.0531	0.03575	0.1394:0.5032:0.135:0.2224	.	368	P35523	CLCN1_HUMAN	V	368	ENSP00000339867:L368V	ENSP00000339867:L368V	L	+	1	2	CLCN1	142738803	0.197000	0.23362	0.967000	0.41034	0.997000	0.91878	0.708000	0.25719	0.198000	0.20407	0.637000	0.83480	CTG		0.473	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		7	62	0	0	0	1	0	7	62					G	143028681	C	G	143028681	3	3	37	1	0	0	0	0	1	0	0	0	3464	912	32	2	1140	2	CLCN1	7	143028681	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	12672094	143028681	16109982	165	3529										
EBF2	64641	broad.mit.edu	37	chr8	25715961	25715961	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ggtactgtaattagactgttGaggcgtggagctggaagagt	16	4	0	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:25715961G>A	ENST00000520164.1	-	14	1939	c.1402C>T	c.(1402-1404)Caa>Taa	p.Q468*	EBF2_ENST00000408929.3_Nonsense_Mutation_p.Q320*|EBF2_ENST00000535548.1_Nonsense_Mutation_p.Q199*	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	468	Pro/Ser/Thr-rich.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTAGACTGTTGAGGCGTGGAG	0.502																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1402-1404)Caa>Taa		early B-cell factor 2							163	167	166					8																	25715961		2057	4198	6255	SO:0001587	stop_gained	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25715961G>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.1402C>T	8.37:g.25715961G>A	ENSP00000430241:p.Gln468*		Somatic				EBF2_ENST00000408929.3_Nonsense_Mutation_p.Q320*|EBF2_ENST00000535548.1_Nonsense_Mutation_p.Q199*	p.Q468*	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)	14	1939	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	468			Pro/Ser/Thr-rich.		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Nonsense_Mutation	SNP	ENST00000520164.1	37	c.1402C>T	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	41	8.717560	0.98927	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	18.4615	0.90739	0.0:0.0:1.0:0.0	.	.	.	.	X	468;320;199	.	ENSP00000386178:Q320X	Q	-	1	0	EBF2	25771878	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.869000	0.99810	2.609000	0.88269	0.655000	0.94253	CAA		0.502	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		7	69	0	0	0	1	0	7	69					A	25715961	G	A	25715961	4	1	37	1	0	0	0	0	0	1	0	0	4883	1299	45	3	337	3	EBF2	8	25715961	Nonsense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08		25715961	120648061	166	3530										
WRN	7486	broad.mit.edu	37	chr8	30989971	30989971	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cttttgtctgctgtggacatCttaggcgaaaaatttggaat	10	6	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:30989971C>G	ENST00000298139.5	+	24	3165	c.2916C>G	c.(2914-2916)atC>atG	p.I972M		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	972					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTGTGGACATCTTAGGCGAAA	0.368			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(2914-2916)atC>atG	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							87	91	90					8																	30989971		2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30989971C>G		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2916C>G	8.37:g.30989971C>G	ENSP00000298139:p.Ile972Met		Somatic					p.I972M	NM_000553.4	NP_000544.2	WXS	Illumina GAIIx	Phase_I	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	24	3165	+		Breast(100;0.195)	972					A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.2916C>G	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	C	9.596	1.127557	0.20959	.	.	ENSG00000165392	ENST00000298139	T	0.41758	0.99	5.45	4.47	0.54385	RQC domain (2);	0.464393	0.22331	N	0.061461	T	0.57562	0.2062	M	0.73962	2.25	0.19775	N	0.999954	B;P	0.34815	0.221;0.47	P;P	0.51516	0.672;0.608	T	0.53578	-0.8419	10	0.49607	T	0.09	-0.4589	9.9619	0.41701	0.0:0.8307:0.0:0.1693	.	382;972	Q59F09;Q14191	.;WRN_HUMAN	M	972	ENSP00000298139:I972M	ENSP00000298139:I972M	I	+	3	3	WRN	31109513	0.381000	0.25140	0.023000	0.16930	0.053000	0.15095	0.843000	0.27640	1.135000	0.42183	0.591000	0.81541	ATC		0.368	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			6	21	0	0	0	1	0	6	21					G	30989971	C	G	30989971	3	3	37	1	0	0	0	0	1	0	0	0	17417	903	32	2	3006	2	WRN	8	30989971	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	5274010	30989971	115374051	167	3531										
PREX2	80243	broad.mit.edu	37	chr8	69103983	69103983	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctacttggacaagtcaaattCaccaccaaactccacatcca	3	15	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:69103983C>T	ENST00000288368.4	+	36	4650	c.4373C>T	c.(4372-4374)tCa>tTa	p.S1458L		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	1458					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAGTCAAATTCACCACCAAAC	0.303																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(4372-4374)tCa>tTa		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							105	104	104					8																	69103983		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.chr8:69103983C>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.4373C>T	8.37:g.69103983C>T	ENSP00000288368:p.Ser1458Leu		Somatic					p.S1458L	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	WXS	Illumina GAIIx	Phase_I	Q70Z35	PREX2_HUMAN			36	4650	+			1458					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.4373C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	7.544	0.661239	0.14645	.	.	ENSG00000046889	ENST00000288368	T	0.57436	0.4	5.48	5.48	0.80851	.	0.351137	0.27340	N	0.019801	T	0.15955	0.0384	N	0.00538	-1.39	0.30890	N	0.730475	B	0.02656	0.0	B	0.01281	0.0	T	0.27262	-1.0079	10	0.02654	T	1	.	8.3473	0.32281	0.0:0.8325:0.0:0.1675	.	1458	Q70Z35	PREX2_HUMAN	L	1458	ENSP00000288368:S1458L	ENSP00000288368:S1458L	S	+	2	0	PREX2	69266537	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.287000	0.59001	2.729000	0.93468	0.650000	0.86243	TCA		0.303	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		7	23	0	0	0	1	0	7	23					T	69103983	C	T	69103983	3	4	37	1	0	0	0	0	1	0	0	0	12489	838	29	3	4744	3	PREX2	8	69103983	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	38114012	69103983	77260039	168	3532										
FAM92A1	137392	broad.mit.edu	37	chr8	94740446	94740446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttaacaggtatccacttgtcGactaagaaaggatcaacaag	8	8	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:94740446G>A	ENST00000518322.1	+	9	932	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	FAM92A1_ENST00000517718.1_Missense_Mutation_p.R109Q|FAM92A1_ENST00000423990.2_Missense_Mutation_p.R226Q|FAM92A1_ENST00000520363.1_3'UTR|RBM12B_ENST00000520961.1_5'Flank	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	264										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCACTTGTCGACTAAGAAAG	0.279																																						ENST00000518322.1																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(790-792)cGa>cAa		family with sequence similarity 92, member A1							92	85	87					8																	94740446		1826	4073	5899	SO:0001583	missense	137392							g.chr8:94740446G>A		CCDS47892.1, CCDS64933.1	8q22.1	2005-09-22			ENSG00000188343	ENSG00000188343			30452	protein-coding gene	gene with protein product						12477932	Standard	XM_005250783		Approved	FLJ38979	uc022ayd.1	A1XBS5	OTTHUMG00000164238	ENST00000518322.1:c.791G>A	8.37:g.94740446G>A	ENSP00000429367:p.Arg264Gln		Somatic				FAM92A1_ENST00000520363.1_3'UTR|FAM92A1_ENST00000517718.1_Missense_Mutation_p.R109Q|FAM92A1_ENST00000423990.2_Missense_Mutation_p.R226Q	p.R264Q	NM_145269.3	NP_660312.2	WXS	Illumina GAIIx	Phase_I	A1XBS5	F92A1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		9	932	+	Breast(36;2.4e-06)		264					A1XBS4|Q32ND3|Q6AHW7|Q8N8R1|Q96L09	Missense_Mutation	SNP	ENST00000518322.1	37	c.791G>A	CCDS47892.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130019	0.37630	.	.	ENSG00000188343	ENST00000518322;ENST00000423990;ENST00000436526;ENST00000517718;ENST00000521641	T;T;T;T	0.45668	1.48;1.38;0.89;0.89	5.43	1.61	0.23674	.	.	.	.	.	T	0.24470	0.0593	N	0.17474	0.49	0.80722	D	1	B;B	0.18741	0.03;0.023	B;B	0.12156	0.007;0.001	T	0.05582	-1.0876	9	0.62326	D	0.03	-3.0936	7.0449	0.25040	0.3628:0.0:0.6372:0.0	.	226;264	A1XBS5-2;A1XBS5	.;F92A1_HUMAN	Q	264;226;226;109;109	ENSP00000429367:R264Q;ENSP00000401774:R226Q;ENSP00000428874:R109Q;ENSP00000428751:R109Q	ENSP00000401774:R226Q	R	+	2	0	FAM92A1	94809622	0.998000	0.40836	0.996000	0.52242	0.880000	0.50808	1.466000	0.35310	0.356000	0.24157	-0.136000	0.14681	CGA		0.279	FAM92A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377890.4	NM_145269		6	37	0	0	0	1	0	6	37					A	94740446	G	A	94740446	3	1	37	1	0	0	0	0	1	0	0	0	5660	1058	37	1	821	1	FAM92A1	8	94740446	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	25636463	94740446	51623576	169	3533										
ESRP1	54845	broad.mit.edu	37	chr8	95676969	95676969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	taacaccgtagtcagggcacGaggtttaccatggcagtctt	11	10	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:95676969G>A	ENST00000433389.2	+	7	879	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	ESRP1_ENST00000454170.2_Missense_Mutation_p.R230Q|ESRP1_ENST00000423620.2_Missense_Mutation_p.R230Q|ESRP1_ENST00000358397.5_Missense_Mutation_p.R230Q	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	230	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)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GTCAGGGCACGAGGTTTACCA	0.383																																						ENST00000433389.2																		ESRP1/RAF1(4)	0				NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(688-690)cGa>cAa		epithelial splicing regulatory protein 1							137	127	130					8																	95676969		1924	4146	6070	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95676969G>A	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"RNA binding motif (RRM) containing"	25966	protein-coding gene	gene with protein product		612959	"RNA binding motif protein 35A"	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.689G>A	8.37:g.95676969G>A	ENSP00000405738:p.Arg230Gln		Somatic				ESRP1_ENST00000358397.5_Missense_Mutation_p.R230Q|ESRP1_ENST00000454170.2_Missense_Mutation_p.R230Q|ESRP1_ENST00000423620.2_Missense_Mutation_p.R230Q	p.R230Q	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	WXS	Illumina GAIIx	Phase_I	Q6NXG1	ESRP1_HUMAN			7	879	+			230			RRM 1.		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.689G>A	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	G	36	5.754248	0.96890	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000522756;ENST00000517610	T;T;T;T;T;T	0.09723	2.95;3.31;3.31;2.95;2.95;3.31	5.68	5.68	0.88126	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	M	0.83483	2.645	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	0.28138	-1.0053	10	0.87932	D	0	-9.7887	19.798	0.96494	0.0:0.0:1.0:0.0	.	230;230;230;230;230;230	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.;.;.;.;.;ESRP1_HUMAN	Q	230;230;230;230;13;89	ENSP00000407349:R230Q;ENSP00000405738:R230Q;ENSP00000351168:R230Q;ENSP00000402766:R230Q;ENSP00000428490:R13Q;ENSP00000429125:R89Q	ENSP00000351168:R230Q	R	+	2	0	ESRP1	95746145	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	9.869000	0.99810	2.677000	0.91161	0.563000	0.77884	CGA		0.383	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		8	50	0	0	0	1	0	8	50					A	95676969	G	A	95676969	3	1	37	1	0	0	0	0	1	0	0	0	5260	1058	37	1	715	1	ESRP1	8	95676969	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	936523	95676969	50687053	170	3534										
VPS13B	157680	broad.mit.edu	37	chr8	100205244	100205244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tggaaatgtcagctcttccgCagtgattgaagctttgataa	10	7	2	3	rs376354130		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:100205244C>T	ENST00000358544.2	+	17	2585	c.2474C>T	c.(2473-2475)gCa>gTa	p.A825V	VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.A825V|VPS13B_ENST00000395996.1_Missense_Mutation_p.A825V|VPS13B_ENST00000355155.1_Missense_Mutation_p.A825V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	825					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)			AGCTCTTCCGCAGTGATTGAA	0.358																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(2473-2475)gCa>gTa		vacuolar protein sorting 13 homolog B (yeast)							113	109	110					8																	100205244		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100205244C>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.2474C>T	8.37:g.100205244C>T	ENSP00000351346:p.Ala825Val		Somatic				VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000358544.2_Missense_Mutation_p.A825V|VPS13B_ENST00000357162.2_Missense_Mutation_p.A825V|VPS13B_ENST00000355155.1_Missense_Mutation_p.A825V	p.A825V			WXS	Illumina GAIIx	Phase_I	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		17	2585	+	Breast(36;3.73e-07)		825					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.2474C>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	4.681	0.126582	0.08931	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.75477	-0.94;-0.2;-0.2;0.08	4.8	-1.53	0.08611	.	0.574265	0.16062	N	0.231426	T	0.44829	0.1312	N	0.14661	0.345	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	0.001;0.001;0.0;0.0;0.001	T	0.36016	-0.9765	10	0.02654	T	1	.	4.6624	0.12648	0.0:0.1757:0.3423:0.482	.	825;825;825;825;825	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	V	825	ENSP00000347281:A825V;ENSP00000349685:A825V;ENSP00000351346:A825V;ENSP00000379318:A825V	ENSP00000347281:A825V	A	+	2	0	VPS13B	100274420	0.004000	0.15560	0.655000	0.29622	0.106000	0.19336	0.193000	0.17116	-0.170000	0.10816	0.460000	0.39030	GCA		0.358	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		4	38	0	0	0	1	0	4	38					T	100205244	C	T	100205244	3	4	37	1	0	0	0	0	1	0	0	0	17205	710	25	3	2578	3	VPS13B	8	100205244	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	4528275	100205244	46158778	171	3535										
FER1L6	654463	broad.mit.edu	37	chr8	125076587	125076587	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cctgatgtgctttcatttcaGatatttcagattcgctaaca	6	9	3	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:125076587G>T	ENST00000522917.1	+	26	3534		c.e26-1		FER1L6_ENST00000399018.1_Splice_Site|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6							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)			TTTCATTTCAGATATTTCAGA	0.507																																						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.e26-1		fer-1-like 6 (C. elegans)							90	96	94					8																	125076587		2002	4178	6180	SO:0001630	splice_region_variant	654463					integral to membrane		g.chr8:125076587G>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.3329-1G>T	8.37:g.125076587G>T			Somatic				FER1L6_ENST00000399018.1_Splice_Site|FER1L6-AS2_ENST00000520031.1_RNA		NM_001039112.2	NP_001034201.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		26	3534	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)								Splice_Site	SNP	ENST00000522917.1	37		CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	7.017	0.558033	0.13436	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	.	.	.	4.62	1.79	0.24919	.	.	.	.	.	.	.	.	.	.	.	0.20489	N	0.999891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1221	0.06395	0.0969:0.1759:0.5452:0.182	.	.	.	.	.	-1	.	.	.	+	.	.	FER1L6	125145768	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.643000	0.24750	0.178000	0.19917	-0.521000	0.04368	.		0.507	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	Intron	17	107	1	0	4.14922e-12	1	4.53495e-12	17	107					T	125076587	G	T	125076587	5	4	37	1	0	0	0	0	0	0	1	0	5823	956	33	2	3426	2	FER1L6	8	125076587	Splice_Site	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	24871343	125076587	21287435	172	3536										
ASAP1	50807	broad.mit.edu	37	chr8	131172206	131172206	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	atcctccttgccggctctgaGaatcctaggaaagaaaaact	8	11	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:131172206G>C	ENST00000518721.1	-	12	1141	c.914C>G	c.(913-915)tCt>tGt	p.S305C	ASAP1_ENST00000357668.1_Missense_Mutation_p.S305C	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	305					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						CCGGCTCTGAGAATCCTAGGA	0.443																																						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.(913-915)tCt>tGt		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							123	117	119					8																	131172206		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.chr8:131172206G>C	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.914C>G	8.37:g.131172206G>C	ENSP00000429900:p.Ser305Cys		Somatic				ASAP1_ENST00000518721.1_Missense_Mutation_p.S305C	p.S305C			WXS	Illumina GAIIx	Phase_I	Q9ULH1	ASAP1_HUMAN			11	941	-			305					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.914C>G	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.700484|4.700484	0.88924|0.88924	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124|ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367	.|T;T;T	.|0.52057	.|3.06;3.06;0.68	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.107170	.|0.64402	.|D	.|0.000003	T|T	0.64271|0.64271	0.2583|0.2583	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;0.999;1.0	.|P;P;D	.|0.85130	.|0.846;0.846;0.997	T|T	0.64347|0.64347	-0.6429|-0.6429	5|10	.|0.87932	.|D	.|0	.|.	17.7873|17.7873	0.88542|0.88542	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|305;305;308	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	L|C	125|308;305;305;275	.|ENSP00000350297:S305C;ENSP00000429900:S305C;ENSP00000430588:S275C	.|ENSP00000344591:S308C	F|S	-|-	3|2	2|0	ASAP1|ASAP1	131241388|131241388	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.905000|0.905000	0.53344|0.53344	9.018000|9.018000	0.93657|0.93657	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	TTC|TCT		0.443	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		9	63	0	0	0	1	0	9	63					C	131172206	G	C	131172206	3	2	37	1	0	0	0	0	1	0	0	0	1010	942	33	2	2551	2	ASAP1	8	131172206	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	6095619	131172206	15191816	173	3537										
ELAVL2	1993	broad.mit.edu	37	chr9	23692637	23692637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	atccattgaggctagctatcGccatggcagcctcatcatag	9	12	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:23692637G>A	ENST00000397312.2	-	7	1272	c.998C>T	c.(997-999)gCg>gTg	p.A333V	ELAVL2_ENST00000544538.1_Missense_Mutation_p.A333V|ELAVL2_ENST00000380110.4_Missense_Mutation_p.A363V|ELAVL2_ENST00000223951.6_Missense_Mutation_p.A320V|ELAVL2_ENST00000380117.1_Missense_Mutation_p.A333V	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	333	RRM 3. {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)		GCTAGCTATCGCCATGGCAGC	0.453																																						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.(997-999)gCg>gTg		ELAV like neuron-specific RNA binding protein 2							96	83	87					9																	23692637		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23692637G>A	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.998C>T	9.37:g.23692637G>A	ENSP00000380479:p.Ala333Val		Somatic				ELAVL2_ENST00000223951.6_Missense_Mutation_p.A320V|ELAVL2_ENST00000380110.4_Missense_Mutation_p.A363V|ELAVL2_ENST00000380117.1_Missense_Mutation_p.A333V|ELAVL2_ENST00000544538.1_Missense_Mutation_p.A333V	p.A333V	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)	7	1272	-			333			RRM 3.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.998C>T	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643832	0.67244	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.94	5.94	0.96194	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.65637	0.2710	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.982;0.986	T	0.67496	-0.5656	10	0.87932	D	0	.	20.369	0.98888	0.0:0.0:1.0:0.0	.	333;320	Q12926;Q12926-2	ELAV2_HUMAN;.	V	320;333;333;320;333;361	ENSP00000223951:A320V;ENSP00000380479:A333V;ENSP00000440998:A333V;ENSP00000369460:A333V	ENSP00000223951:A320V	A	-	2	0	ELAVL2	23682637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.374000	0.97172	2.819000	0.97034	0.650000	0.86243	GCG		0.453	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		19	44	0	0	0	1	0	19	44					A	23692637	G	A	23692637	3	1	37	1	0	0	0	0	1	0	0	0	5052	1087	38	1	85	1	ELAVL2	9	23692637	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08		23692637	117520794	174	3538										
KIAA1161	57462	broad.mit.edu	37	chr9	34372195	34372195	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	agcgagcgctccgtgctgttCcagcccaggtggaagggcac	15	13	0	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:34372195C>G	ENST00000297625.7	-	2	870	c.645G>C	c.(643-645)tgG>tgC	p.W215C		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	249					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CCGTGCTGTTCCAGCCCAGGT	0.687																																						ENST00000297625.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(643-645)tgG>tgC		KIAA1161							14	18	16					9																	34372195		2032	4168	6200	SO:0001583	missense	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34372195C>G	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.645G>C	9.37:g.34372195C>G	ENSP00000297625:p.Trp215Cys		Somatic					p.W215C	NM_020702.3	NP_065753.2	WXS	Illumina GAIIx	Phase_I	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	870	-			249					Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	ENST00000297625.7	37	c.645G>C		.	.	.	.	.	.	.	.	.	.	C	15.01	2.707516	0.48412	.	.	ENSG00000164976	ENST00000297625;ENST00000379142	T;T	0.70045	-0.45;-0.45	6.08	6.08	0.98989	.	0.115496	0.64402	D	0.000005	T	0.70701	0.3254	M	0.65975	2.015	0.80722	D	1	D	0.54601	0.967	P	0.46718	0.525	T	0.74169	-0.3752	10	0.66056	D	0.02	-11.3286	15.6106	0.76713	0.0:0.8622:0.1378:0.0	.	249	Q6NSJ0	K1161_HUMAN	C	215;117	ENSP00000297625:W215C;ENSP00000368437:W117C	ENSP00000297625:W215C	W	-	3	0	KIAA1161	34362195	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.053000	0.57427	2.894000	0.99253	0.655000	0.94253	TGG		0.687	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		6	17	0	0	0	1	0	6	17					G	34372195	C	G	34372195	3	3	37	1	0	0	0	0	1	0	0	0	8220	856	30	2	1401	2	KIAA1161	9	34372195	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	10679558	34372195	106841236	175	3539										
RUSC2	9853	broad.mit.edu	37	chr9	35560367	35560367	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gtggagaagaggaagaggaaGaagaggagacagaagaggtg	20	1	0	8			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:35560367G>C	ENST00000455600.1	+	10	4299	c.3730G>C	c.(3730-3732)Gaa>Caa	p.E1244Q	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1244	Poly-Glu.					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)			ggaagaggaagaagaggagac	0.687																																						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.(3730-3732)Gaa>Caa		RUN and SH3 domain containing 2							22	28	26					9																	35560367		2198	4288	6486	SO:0001583	missense	9853					cytosol		g.chr9:35560367G>C	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3730G>C	9.37:g.35560367G>C	ENSP00000393922:p.Glu1244Gln		Somatic					p.E1244Q	NM_001135999.1	NP_001129471.1	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)		10	4299	+			1244			Poly-Glu.		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.3730G>C	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.549600	0.27652	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.22134	1.97;1.97	4.86	4.86	0.63082	.	0.767401	0.10599	U	0.655835	T	0.15003	0.0362	N	0.14661	0.345	0.22620	N	0.998929	B	0.30824	0.296	B	0.29942	0.109	T	0.17319	-1.0373	10	0.18710	T	0.47	-5.3993	16.5402	0.84383	0.0:0.0:1.0:0.0	.	1244	Q8N2Y8	RUSC2_HUMAN	Q	1244	ENSP00000355177:E1244Q;ENSP00000393922:E1244Q	ENSP00000355177:E1244Q	E	+	1	0	RUSC2	35550367	0.001000	0.12720	0.207000	0.23584	0.890000	0.51754	-0.132000	0.10467	2.261000	0.74972	0.561000	0.74099	GAA		0.687	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		9	30	0	0	0	1	0	9	30					C	35560367	G	C	35560367	3	2	37	1	0	0	0	0	1	0	0	0	13766	943	33	2	3764	2	RUSC2	9	35560367	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	1188172	35560367	105653064	176	3540										
RUSC2	9853	broad.mit.edu	37	chr9	35561242	35561242	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	agctgagcttccacaaaggaGacatcctacgagtgctgggg	13	10	0	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:35561242G>A	ENST00000455600.1	+	12	4983	c.4414G>A	c.(4414-4416)Gac>Aac	p.D1472N	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1472	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.					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)			CCACAAAGGAGACATCCTACG	0.652																																						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.(4414-4416)Gac>Aac		RUN and SH3 domain containing 2							56	63	61					9																	35561242		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35561242G>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.4414G>A	9.37:g.35561242G>A	ENSP00000393922:p.Asp1472Asn		Somatic					p.D1472N	NM_001135999.1	NP_001129471.1	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)		12	4983	+			1472			SH3.		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.4414G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001494	0.93227	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.18502	2.21;2.21	5.39	5.39	0.77823	Src homology-3 domain (3);Variant SH3 (1);	0.049087	0.85682	D	0.000000	T	0.52256	0.1723	M	0.93638	3.44	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	T	0.64769	-0.6329	10	0.87932	D	0	-15.7405	16.6501	0.85187	0.0:0.0:1.0:0.0	.	1472	Q8N2Y8	RUSC2_HUMAN	N	1472	ENSP00000355177:D1472N;ENSP00000393922:D1472N	ENSP00000355177:D1472N	D	+	1	0	RUSC2	35551242	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	8.808000	0.91939	2.679000	0.91253	0.650000	0.86243	GAC		0.652	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		8	80	0	0	0	1	0	8	80					A	35561242	G	A	35561242	3	1	37	1	0	0	0	0	1	0	0	0	13766	942	33	3	4456	3	RUSC2	9	35561242	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	875	35561242	105652189	177	3541										
PTPN3	5774	broad.mit.edu	37	chr9	112195361	112195361	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gtttgcacttaccaaggataGaaacttgtgcaaatgtattt	8	6	0	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:112195361G>C	ENST00000374541.2	-	10	860	c.756C>G	c.(754-756)ttC>ttG	p.F252L	PTPN3_ENST00000446349.1_Missense_Mutation_p.F121L|PTPN3_ENST00000412145.1_Missense_Mutation_p.F121L|PTPN3_ENST00000262539.3_Missense_Mutation_p.F143L	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	252	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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						ACCAAGGATAGAAACTTGTGC	0.348																																						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.(361-363)ttC>ttG		protein tyrosine phosphatase, non-receptor type 3							119	108	112					9																	112195361		2203	4300	6503	SO:0001583	missense	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112195361G>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.756C>G	9.37:g.112195361G>C	ENSP00000363667:p.Phe252Leu		Somatic				PTPN3_ENST00000374541.2_Missense_Mutation_p.F252L|PTPN3_ENST00000446349.1_Missense_Mutation_p.F121L|PTPN3_ENST00000262539.3_Missense_Mutation_p.F143L	p.F121L	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	WXS	Illumina GAIIx	Phase_I	P26045	PTN3_HUMAN			5	2916	-			252			FERM.		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.363C>G	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231058	0.79688	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	6.08	6.08	0.98989	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.88815	0.6539	N	0.21583	0.68	0.80722	D	1	D;D;B	0.89917	1.0;0.987;0.392	D;P;B	0.87578	0.998;0.898;0.262	D	0.83714	0.0189	10	0.12103	T	0.63	.	20.2585	0.98435	0.0:0.0:1.0:0.0	.	143;252;252	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	L	252;121;121;252;143	ENSP00000416654:F121L;ENSP00000395384:F121L;ENSP00000363667:F252L;ENSP00000262539:F143L	ENSP00000262539:F143L	F	-	3	2	PTPN3	111235182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.866000	0.87056	2.894000	0.99253	0.655000	0.94253	TTC		0.348	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			5	36	0	0	0	1	0	5	36					C	112195361	G	C	112195361	3	2	37	1	0	0	0	0	1	0	0	0	12804	933	33	2	2053	2	PTPN3	9	112195361	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	76634119	112195361	29018070	178	3542										
PDCL	5082	broad.mit.edu	37	chr9	125588934	125588934	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttcgcctgccagctcagcctCtgcaggcacagaactgctgg	11	15	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:125588934C>G	ENST00000259467.4	-	2	298	c.133G>C	c.(133-135)Gag>Cag	p.E45Q		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	45					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						AGCTCAGCCTCTGCAGGCACA	0.502																																						ENST00000259467.4																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						c.(133-135)Gag>Cag		phosducin-like							84	72	76					9																	125588934		2203	4300	6503	SO:0001583	missense	5082				signal transduction|visual perception			g.chr9:125588934C>G	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.133G>C	9.37:g.125588934C>G	ENSP00000259467:p.Glu45Gln		Somatic					p.E45Q	NM_005388.4	NP_005379.3	WXS	Illumina GAIIx	Phase_I	Q13371	PHLP_HUMAN			2	298	-			45					Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Missense_Mutation	SNP	ENST00000259467.4	37	c.133G>C	CCDS6845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.50|14.50	2.553951|2.553951	0.45487|0.45487	.|.	.|.	ENSG00000136940|ENSG00000136940	ENST00000259467|ENST00000436632;ENST00000394285	T|.	0.53206|.	0.63|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Phosducin, thioredoxin-like domain (1);|.	0.137863|.	0.64402|.	D|.	0.000005|.	T|T	0.72112|0.72112	0.3420|0.3420	L|L	0.57536|0.57536	1.79|1.79	0.58432|0.58432	D|D	0.999995|0.999995	B;B|.	0.32467|.	0.372;0.372|.	B;B|.	0.37650|.	0.255;0.255|.	T|T	0.69254|0.69254	-0.5193|-0.5193	10|5	0.21540|.	T|.	0.41|.	-6.1746|-6.1746	18.3198|18.3198	0.90234|0.90234	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	45;45|.	Q4VXB6;Q13371|.	.;PHLP_HUMAN|.	Q|T	45|11;33	ENSP00000259467:E45Q|.	ENSP00000259467:E45Q|.	E|R	-|-	1|2	0|0	PDCL|PDCL	124628755|124628755	0.999000|0.999000	0.42202|0.42202	0.897000|0.897000	0.35233|0.35233	0.764000|0.764000	0.43329|0.43329	7.024000|7.024000	0.76443|0.76443	2.569000|2.569000	0.86673|0.86673	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.502	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		6	45	0	0	0	1	0	6	45					G	125588934	C	G	125588934	3	3	37	1	0	0	0	0	1	0	0	0	11635	922	32	2	784	2	PDCL	9	125588934	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	13393573	125588934	15624497	179	3543										
ABCA2	20	broad.mit.edu	37	chr9	139910184	139910184	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gcgcgcgtaggggtccacgcCcgccgtgggctcgtccagga	17	15	0	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:139910184C>G	ENST00000371605.3	-	22	3601	c.3454G>C	c.(3454-3456)Ggc>Cgc	p.G1152R	ABCA2_ENST00000341511.6_Missense_Mutation_p.G1153R|ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000265662.5_Missense_Mutation_p.G1153R			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1152	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGGTCCACGCCCGCCGTGGGC	0.692																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(3457-3459)Ggc>Cgc		ATP-binding cassette, sub-family A (ABC1), member 2							20	25	23					9																	139910184		2114	4226	6340	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139910184C>G	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.3454G>C	9.37:g.139910184C>G	ENSP00000360666:p.Gly1152Arg		Somatic				ABCA2_ENST00000341511.6_Missense_Mutation_p.G1153R|ABCA2_ENST00000371605.3_Missense_Mutation_p.G1152R	p.G1153R			WXS	Illumina GAIIx	Phase_I	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	23	3604	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1152			ABC transporter 1.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.3457G>C		.	.	.	.	.	.	.	.	.	.	C	18.99	3.740364	0.69304	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.98264	-4.83;-4.83;-4.83	4.2	4.2	0.49525	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	U	0.000000	D	0.99378	0.9781	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	0.98300	1.0518	10	0.87932	D	0	.	16.5127	0.84290	0.0:1.0:0.0:0.0	.	1152;1183	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	R	1153;1152;1183;1153	ENSP00000265662:G1153R;ENSP00000360666:G1152R;ENSP00000344155:G1153R	ENSP00000265662:G1153R	G	-	1	0	ABCA2	139030005	1.000000	0.71417	0.174000	0.22961	0.450000	0.32258	7.632000	0.83247	1.880000	0.54463	0.313000	0.20887	GGC		0.692	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		5	33	0	0	0	1	0	5	33					G	139910184	C	G	139910184	3	3	37	1	0	0	0	0	1	0	0	0	32	623	22	5	3961	5	ABCA2	9	139910184	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	14321250	139910184	1303247	180	3544										
MAN1B1	11253	broad.mit.edu	37	chr9	139995996	139995996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	catccaagattccttactcgGatgtgaacatcggtactgga	9	10	0	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:139995996G>A	ENST00000371589.4	+	8	1199	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	MAN1B1_ENST00000474902.1_Missense_Mutation_p.D79N	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	376					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|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 quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TCCTTACTCGGATGTGAACAT	0.547																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(1126-1128)Gat>Aat		mannosidase, alpha, class 1B, member 1							91	78	82					9																	139995996		2203	4300	6503	SO:0001583	missense	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:139995996G>A	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"endoplasmic reticulum alpha-mannosidase 1", "alpha 1,2-mannosidase", "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1", "ER alpha 1,2-mannosidase", "Man9GlcNAc2-specific processing alpha-mannosidase"	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1126G>A	9.37:g.139995996G>A	ENSP00000360645:p.Asp376Asn		Somatic				MAN1B1_ENST00000474902.1_Missense_Mutation_p.D79N	p.D376N	NM_016219.4	NP_057303.2	WXS	Illumina GAIIx	Phase_I	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	8	1199	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	376					Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	ENST00000371589.4	37	c.1126G>A	CCDS7029.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.282652|4.282652	0.80692|0.80692	.|.	.|.	ENSG00000177239|ENSG00000177239	ENST00000371589;ENST00000474902|ENST00000535144	T;T|.	0.71579|.	-0.58;-0.58|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.69663|0.69663	0.3136|0.3136	L|L	0.49778|0.49778	1.585|1.585	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.992;0.995;0.995;0.999|.	P;D;D;D|.	0.77557|.	0.85;0.99;0.971;0.99|.	T|T	0.66444|0.66444	-0.5922|-0.5922	9|5	.|.	.|.	.|.	-8.5994|-8.5994	18.0998|18.0998	0.89503|0.89503	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	277;340;376;277|.	B4DPS9;B4DR05;Q9UKM7;Q68D80|.	.;.;MA1B1_HUMAN;.|.	N|E	376;79|349	ENSP00000360645:D376N;ENSP00000447256:D79N|.	.|.	D|G	+|+	1|2	0|0	MAN1B1|MAN1B1	139115817|139115817	1.000000|1.000000	0.71417|0.71417	0.815000|0.815000	0.32552|0.32552	0.196000|0.196000	0.23810|0.23810	6.399000|6.399000	0.73248|0.73248	2.510000|2.510000	0.84645|0.84645	0.561000|0.561000	0.74099|0.74099	GAT|GGA		0.547	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		5	42	0	0	0	1	0	5	42					A	139995996	G	A	139995996	3	1	37	1	0	0	0	0	1	0	0	0	9221	1174	41	3	1156	3	MAN1B1	9	139995996	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	85812	139995996	1217435	181	3545										
OLAH	55301	broad.mit.edu	37	chr10	15115119	15115119	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aaccagtggaaatgctaaaaTttaccagcttccagggggtc	10	9	0	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:15115119T>C	ENST00000378228.3	+	8	943	c.689T>C	c.(688-690)aTt>aCt	p.I230T	OLAH_ENST00000485251.1_3'UTR|OLAH_ENST00000378217.3_Missense_Mutation_p.I283T	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	230					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						AATGCTAAAATTTACCAGCTT	0.368																																						ENST00000378217.3																			0				endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						c.(847-849)aTt>aCt		oleoyl-ACP hydrolase							86	89	88					10																	15115119		2203	4300	6503	SO:0001583	missense	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15115119T>C	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"thioesterase domain containing 1"	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.689T>C	10.37:g.15115119T>C	ENSP00000367473:p.Ile230Thr		Somatic				OLAH_ENST00000378228.3_Missense_Mutation_p.I230T|OLAH_ENST00000485251.1_3'UTR	p.I283T	NM_018324.2	NP_060794.1	WXS	Illumina GAIIx	Phase_I	Q9NV23	SAST_HUMAN			9	1035	+			230					Q5VUB6|Q9NUW1	Missense_Mutation	SNP	ENST00000378228.3	37	c.848T>C	CCDS31152.1	.	.	.	.	.	.	.	.	.	.	t	13.01	2.109562	0.37242	.	.	ENSG00000152463	ENST00000378228;ENST00000378217	.	.	.	5.35	-4.55	0.03441	Thioesterase (1);	0.663319	0.15907	N	0.238772	T	0.31544	0.0800	M	0.69185	2.1	0.09310	N	1	B;B	0.31256	0.316;0.244	B;B	0.35470	0.203;0.061	T	0.30794	-0.9966	9	0.46703	T	0.11	-1.2436	0.9693	0.01412	0.2243:0.2765:0.1155:0.3837	.	230;283	Q9NV23;Q9NV23-2	SAST_HUMAN;.	T	230;283	.	ENSP00000367462:I283T	I	+	2	0	OLAH	15155125	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.130000	0.15850	-0.359000	0.08150	0.519000	0.50382	ATT		0.368	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		4	35	0	0	0	1	0	4	35					C	15115119	T	C	15115119	3	2	37	1	0	0	0	0	1	0	0	0	10860	1493	52	4	878	4	OLAH	10	15115119	Missense_Mutation	SNP	T	TCGA-N9-A4Q7-01A-11D-A28R-08		15115119	120419628	182	3546										
KIAA1462	57608	broad.mit.edu	37	chr10	30317227	30317227	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gactctgttcttgcagagccGggctcttatcagacccattc	9	13	4	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:30317227G>T	ENST00000375377.1	-	3	1951	c.1850C>A	c.(1849-1851)cCg>cAg	p.P617Q		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	617					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						TTGCAGAGCCGGGCTCTTATC	0.493																																						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.(1849-1851)cCg>cAg		KIAA1462							92	88	89					10																	30317227		1890	4123	6013	SO:0001583	missense	57608							g.chr10:30317227G>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1850C>A	10.37:g.30317227G>T	ENSP00000364526:p.Pro617Gln		Somatic					p.P617Q	NM_020848.2	NP_065899.1	WXS	Illumina GAIIx	Phase_I	Q9P266	K1462_HUMAN			3	1951	-			617					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.1850C>A	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	9.071	0.996947	0.19043	.	.	ENSG00000165757	ENST00000375377	T	0.11604	2.76	5.62	2.69	0.31865	.	0.851386	0.10424	N	0.676334	T	0.07863	0.0197	L	0.29908	0.895	0.09310	N	1	B	0.29531	0.247	B	0.22753	0.041	T	0.31888	-0.9927	10	0.51188	T	0.08	0.9323	6.5801	0.22589	0.1941:0.3717:0.4342:0.0	.	617	Q9P266	K1462_HUMAN	Q	617	ENSP00000364526:P617Q	ENSP00000364526:P617Q	P	-	2	0	KIAA1462	30357233	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.111000	0.15458	0.743000	0.32719	0.561000	0.74099	CCG		0.493	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		26	38	1	0	3.01185e-09	1	3.26722e-09	26	38					T	30317227	G	T	30317227	3	4	37	1	0	0	0	0	1	0	0	0	8243	1116	39	5	2237	5	KIAA1462	10	30317227	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	15202108	30317227	105217520	183	3547										
FAM21A	387680	broad.mit.edu	37	chr10	51892695	51892695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tgatcccctgaatgcctttgGaggccagtagagcacacagg	12	11	0	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:51892695G>A	ENST00000282633.5	+	31	4061	c.4016G>A	c.(4015-4017)gGa>gAa	p.G1339E	FAM21A_ENST00000399339.2_Missense_Mutation_p.G1251E|FAM21A_ENST00000351071.6_Missense_Mutation_p.G1318E|FAM21A_ENST00000314664.7_Missense_Mutation_p.G1277E	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	1339					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						AATGCCTTTGGAGGCCAGTAG	0.453																																						ENST00000351071.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						c.(3952-3954)gGa>gAa		family with sequence similarity 21, member A							31	29	29					10																	51892695		1781	3695	5476	SO:0001583	missense	387680				retrograde transport, endosome to Golgi	early endosome membrane|WASH complex		g.chr10:51892695G>A	BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"family with sequence similarity 21, member B"	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.4016G>A	10.37:g.51892695G>A	ENSP00000282633:p.Gly1339Glu		Somatic				FAM21A_ENST00000399339.2_Missense_Mutation_p.G1251E|FAM21A_ENST00000282633.5_Missense_Mutation_p.G1339E|FAM21A_ENST00000314664.7_Missense_Mutation_p.G1277E	p.G1318E			WXS	Illumina GAIIx	Phase_I	Q641Q2	FA21A_HUMAN			30	4071	+			1339					A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP	ENST00000282633.5	37	c.3953G>A	CCDS41527.1	.	.	.	.	.	.	.	.	.	.	g	17.43	3.387033	0.61956	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000282633;ENST00000399339	.	.	.	3.72	3.72	0.42706	.	0.055840	0.64402	D	0.000001	T	0.77644	0.4161	M	0.78637	2.42	0.58432	D	0.999995	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	P;D;D;D	0.97110	0.846;1.0;0.999;1.0	T	0.79736	-0.1678	9	0.49607	T	0.09	-14.389	13.4135	0.60956	0.0:0.0:1.0:0.0	.	1277;1318;1251;1339	E7ESD2;Q641Q2-2;F8W7U3;Q641Q2	.;.;.;FA21A_HUMAN	E	1318;1277;1339;1251	.	ENSP00000282633:G1339E	G	+	2	0	FAM21A	51562701	1.000000	0.71417	0.999000	0.59377	0.590000	0.36582	6.195000	0.72088	1.774000	0.52232	0.184000	0.17185	GGA		0.453	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276917.2	NM_001005751		12	47	0	0	0	1	0	12	47					A	51892695	G	A	51892695	3	1	37	1	0	0	0	0	1	0	0	0	5545	1174	41	3	4138	3	FAM21A	10	51892695	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	21575468	51892695	83642052	184	3548										
AP3M1	26985	broad.mit.edu	37	chr10	75883653	75883653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tctccccatacatgtccaaaCggtttacttttaagcctgta	5	12	1	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:75883653C>T	ENST00000355264.4	-	9	1483	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	RP11-178G16.5_ENST00000599110.1_lincRNA|AP3M1_ENST00000372745.1_Missense_Mutation_p.R391H	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	391	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					CATGTCCAAACGGTTTACTTT	0.353																																						ENST00000355264.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13						c.(1171-1173)cGt>cAt		adaptor-related protein complex 3, mu 1 subunit							157	148	151					10																	75883653		2203	4300	6503	SO:0001583	missense	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75883653C>T	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.1172G>A	10.37:g.75883653C>T	ENSP00000347408:p.Arg391His		Somatic				AP3M1_ENST00000372745.1_Missense_Mutation_p.R391H	p.R391H	NM_012095.4	NP_036227.1	WXS	Illumina GAIIx	Phase_I	Q9Y2T2	AP3M1_HUMAN			9	1483	-	Prostate(51;0.0112)		391			MHD.		Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	c.1172G>A	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549357	0.86127	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.19806	2.12;2.12	5.8	4.89	0.63831	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	M	0.81942	2.565	0.80722	D	1	P;D	0.89917	0.95;1.0	P;D	0.74023	0.479;0.982	T	0.49184	-0.8966	10	0.59425	D	0.04	-0.572	15.2847	0.73819	0.0:0.9318:0.0:0.0682	.	337;391	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	H	391	ENSP00000347408:R391H;ENSP00000361831:R391H	ENSP00000347408:R391H	R	-	2	0	AP3M1	75553659	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.731000	0.68554	2.744000	0.94065	0.655000	0.94253	CGT		0.353	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			18	68	0	0	0	1	0	18	68					T	75883653	C	T	75883653	3	4	37	1	0	0	0	0	1	0	0	0	747	536	19	1	88	1	AP3M1	10	75883653	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	23990958	75883653	59651094	185	3549										
STAMBPL1	57559	broad.mit.edu	37	chr10	90665330	90665330	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tccacgacgttactttaggtCtggagtagagatggagagga	14	6	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:90665330C>G	ENST00000371926.3	+	3	1119	c.161C>G	c.(160-162)tCt>tGt	p.S54C	STAMBPL1_ENST00000371927.3_Missense_Mutation_p.S54C|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.S54C	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	54						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TACTTTAGGTCTGGAGTAGAG	0.408																																						ENST00000371927.3																			0				breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11						c.(160-162)tCt>tGt		STAM binding protein-like 1							145	135	139					10																	90665330		2203	4300	6503	SO:0001583	missense	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90665330C>G	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"associated molecule with the SH3 domain of STAM (AMSH) like protein", "associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.161C>G	10.37:g.90665330C>G	ENSP00000360994:p.Ser54Cys		Somatic				STAMBPL1_ENST00000371924.1_Missense_Mutation_p.S54C|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.S54C	p.S54C			WXS	Illumina GAIIx	Phase_I	Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	3	1119	+		Colorectal(252;0.0381)	54					B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Missense_Mutation	SNP	ENST00000371926.3	37	c.161C>G	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204337	0.58234	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924	T;T;T	0.28069	1.66;1.63;1.66	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.59569	0.2203	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	T	0.62234	-0.6897	10	0.62326	D	0.03	-3.5663	18.2527	0.90009	0.0:1.0:0.0:0.0	.	54;54	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	C	54	ENSP00000360994:S54C;ENSP00000360995:S54C;ENSP00000360992:S54C	ENSP00000360992:S54C	S	+	2	0	STAMBPL1	90655310	1.000000	0.71417	0.634000	0.29324	0.089000	0.18198	7.389000	0.79806	2.831000	0.97527	0.655000	0.94253	TCT		0.408	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		14	53	0	0	0	1	0	14	53					G	90665330	C	G	90665330	3	3	37	1	0	0	0	0	1	0	0	0	15266	913	32	2	167	2	STAMBPL1	10	90665330	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	14781677	90665330	44869417	186	3550										
IDE	3416	broad.mit.edu	37	chr10	94294450	94294450	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	actgagaaactggctgtattCattttctttagggtatttct	8	6	3	1	rs188992947		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:94294450C>T	ENST00000265986.6	-	3	432	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	126					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)"	TGGCTGTATTCATTTTCTTTA	0.368																																						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.(376-378)Gaa>Aaa		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						124	119	121					10																	94294450		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94294450C>T	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.376G>A	10.37:g.94294450C>T	ENSP00000265986:p.Glu126Lys		Somatic					p.E126K	NM_004969.3	NP_004960.2	WXS	Illumina GAIIx	Phase_I	P14735	IDE_HUMAN			3	432	-			126					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.376G>A	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	C	33	5.285233	0.95517	.	.	ENSG00000119912	ENST00000265986;ENST00000436178	T;T	0.34472	1.36;1.36	5.38	5.38	0.77491	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66247	0.2770	M	0.87900	2.915	0.80722	D	1	D	0.63880	0.993	D	0.68483	0.958	T	0.70706	-0.4798	10	0.52906	T	0.07	-16.5594	19.1669	0.93561	0.0:1.0:0.0:0.0	.	126	P14735	IDE_HUMAN	K	126;112	ENSP00000265986:E126K;ENSP00000408850:E112K	ENSP00000265986:E126K	E	-	1	0	IDE	94284430	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.794000	0.85869	2.515000	0.84797	0.655000	0.94253	GAA		0.368	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		5	38	0	0	0	1	0	5	38					T	94294450	C	T	94294450	3	4	37	1	0	0	0	0	1	0	0	0	7502	835	29	3	2775	3	IDE	10	94294450	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	3629120	94294450	41240297	187	3551										
HPS6	79803	broad.mit.edu	37	chr10	103825882	103825882	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ggcgtggcccacgttctactCatctggagcccaggcaaggg	14	13	3	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:103825882C>G	ENST00000299238.5	+	1	736	c.651C>G	c.(649-651)ctC>ctG	p.L217L		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	217					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)		ACGTTCTACTCATCTGGAGCC	0.622									Hermansky-Pudlak syndrome																													ENST00000299238.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(649-651)ctC>ctG		Hermansky-Pudlak syndrome 6							55	56	56					10																	103825882		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.chr10:103825882C>G	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.651C>G	10.37:g.103825882C>G			Somatic					p.L217L	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	736	+		Colorectal(252;0.122)	217					Q5VV69|Q9H685	Silent	SNP	ENST00000299238.5	37	c.651C>G	CCDS7527.1																																																																																				0.622	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		23	58	0	0	0	1	0	23	58					G	103825882	C	G	103825882	2	3	37	1	0	0	0	0	0	0	0	1	7352	813	29	2		2	HPS6	10	103825882	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	9531432	103825882	31708865	188	3552										
NOLC1	9221	broad.mit.edu	37	chr10	103921999	103921999	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ggctcaatctctgtccaggtCaattctattaagtttgacag	8	9	4	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:103921999C>T	ENST00000605788.1	+	13	2308	c.2073C>T	c.(2071-2073)gtC>gtT	p.V691V	NOLC1_ENST00000477977.1_Intron|NOLC1_ENST00000603742.1_Silent_p.V410V|NOLC1_ENST00000405356.1_Silent_p.V701V|NOLC1_ENST00000488254.2_Silent_p.V692V	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	691					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CTGTCCAGGTCAATTCTATTA	0.507																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(2101-2103)gtC>gtT		nucleolar and coiled-body phosphoprotein 1							129	144	139					10																	103921999		2203	4300	6503	SO:0001819	synonymous_variant	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103921999C>T	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.2073C>T	10.37:g.103921999C>T			Somatic				NOLC1_ENST00000488254.2_Silent_p.V692V|NOLC1_ENST00000605788.1_Silent_p.V691V|NOLC1_ENST00000477977.1_Intron|NOLC1_ENST00000603742.1_Silent_p.V410V	p.V701V			WXS	Illumina GAIIx	Phase_I	Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	13	2338	+		Colorectal(252;0.122)	691					Q15030|Q5VV70|Q9BUV3	Silent	SNP	ENST00000605788.1	37	c.2103C>T	CCDS7530.1																																																																																				0.507	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		32	208	0	0	0	1	0	32	208					T	103921999	C	T	103921999	2	4	37	1	0	0	0	0	0	0	0	1	10538	813	29	3		3	NOLC1	10	103921999	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	96117	103921999	31612748	189	3553										
SORCS1	114815	broad.mit.edu	37	chr10	108412181	108412181	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	agtgacgttgtgtccttgttCcgctgtcagctttccatcag	10	11	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:108412181C>A	ENST00000263054.6	-	18	2441	c.2434G>T	c.(2434-2436)Gaa>Taa	p.E812*	SORCS1_ENST00000369698.1_Nonsense_Mutation_p.E347*|SORCS1_ENST00000344440.6_Nonsense_Mutation_p.E812*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	812	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTCCTTGTTCCGCTGTCAGC	0.522																																						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.(2434-2436)Gaa>Taa		sortilin-related VPS10 domain containing receptor 1							130	115	120					10																	108412181		2203	4300	6503	SO:0001587	stop_gained	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108412181C>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2434G>T	10.37:g.108412181C>A	ENSP00000263054:p.Glu812*		Somatic				SORCS1_ENST00000369698.1_Nonsense_Mutation_p.E347*|SORCS1_ENST00000344440.6_Nonsense_Mutation_p.E812*	p.E812*	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)	18	2441	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	812			PKD.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Nonsense_Mutation	SNP	ENST00000263054.6	37	c.2434G>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	37	6.313100	0.97467	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	.	.	.	5.74	5.74	0.90152	.	0.140067	0.49916	D	0.000138	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.9938	16.8676	0.86033	0.0:0.872:0.128:0.0	.	.	.	.	X	347;812;812	.	.	E	-	1	0	SORCS1	108402171	0.651000	0.27340	0.106000	0.21319	0.312000	0.27988	2.306000	0.43673	2.709000	0.92574	0.655000	0.94253	GAA		0.522	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		10	58	1	0	4.68919e-08	1	5.02413e-08	10	58					A	108412181	C	A	108412181	4	1	37	1	0	0	0	0	0	1	0	0	14945	864	30	2	1342	2	SORCS1	10	108412181	Nonsense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	4490182	108412181	27122566	190	3554										
DCLRE1A	9937	broad.mit.edu	37	chr10	115608914	115608914	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ataaggtgatctgatctcttCtgacacgctccttcctgcag	8	12	3	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:115608914C>G	ENST00000361384.2	-	2	2867	c.1950G>C	c.(1948-1950)caG>caC	p.Q650H	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.Q650H	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	650					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)		CTGATCTCTTCTGACACGCTC	0.413								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1948-1950)caG>caC	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							222	225	224					10																	115608914		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115608914C>G		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.1950G>C	10.37:g.115608914C>G	ENSP00000355185:p.Gln650His		Somatic				DCLRE1A_ENST00000369305.1_Missense_Mutation_p.Q650H	p.Q650H	NM_014881.3	NP_055696.3	WXS	Illumina GAIIx	Phase_I	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	2867	-			650					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.1950G>C	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864179	0.51482	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.65178	-0.14;-0.14	5.04	4.12	0.48240	.	1.230860	0.05626	N	0.580771	T	0.66247	0.2770	M	0.67953	2.075	0.09310	N	1	P	0.50943	0.94	B	0.43916	0.436	T	0.58618	-0.7605	10	0.59425	D	0.04	0.441	11.5253	0.50576	0.0:0.917:0.0:0.083	.	650	Q6PJP8	DCR1A_HUMAN	H	650	ENSP00000355185:Q650H;ENSP00000358311:Q650H	ENSP00000355185:Q650H	Q	-	3	2	DCLRE1A	115598904	0.216000	0.23585	0.122000	0.21767	0.019000	0.09904	1.033000	0.30191	2.473000	0.83533	0.655000	0.94253	CAG		0.413	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		20	124	0	0	0	1	0	20	124					G	115608914	C	G	115608914	3	3	37	1	0	0	0	0	1	0	0	0	4296	912	32	2	1204	2	DCLRE1A	10	115608914	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	7196733	115608914	19925833	191	3555										
PNLIPRP1	5407	broad.mit.edu	37	chr10	118354353	118354353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gagtggtgggcgcccaggtgGcccagatgctcgacatcctc	15	13	0	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:118354353G>A	ENST00000528052.1	+	5	513	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.A148T|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.A148T			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	148					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)	p.A148S(2)		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)		CGCCCAGGTGGCCCAGATGCT	0.602																																						ENST00000528052.1																			2	Substitution - Missense(2)	p.A148S(2)	lung(2)	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.(442-444)Gcc>Acc		pancreatic lipase-related protein 1							80	67	71					10																	118354353		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118354353G>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.442G>A	10.37:g.118354353G>A	ENSP00000433933:p.Ala148Thr		Somatic				PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.A148T|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.A148T	p.A148T			WXS	Illumina GAIIx	Phase_I	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	5	513	+			148					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.442G>A	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138029	0.94517	.	.	ENSG00000187021	ENST00000531984;ENST00000358834;ENST00000528052;ENST00000534537	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	4.94	4.94	0.65067	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.96889	0.8984	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97782	1.0233	10	0.87932	D	0	-16.3199	17.2878	0.87146	0.0:0.0:1.0:0.0	.	148	P54315	LIPR1_HUMAN	T	148	ENSP00000436123:A148T;ENSP00000351695:A148T;ENSP00000433933:A148T;ENSP00000434159:A148T	ENSP00000351695:A148T	A	+	1	0	PNLIPRP1	118344343	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.475000	0.81041	2.460000	0.83146	0.655000	0.94253	GCC		0.602	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		8	26	0	0	0	1	0	8	26					A	118354353	G	A	118354353	3	1	37	1	0	0	0	0	1	0	0	0	12159	1203	42	3	456	3	PNLIPRP1	10	118354353	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	2745439	118354353	17180394	192	3556										
PDZD8	118987	broad.mit.edu	37	chr10	119043585	119043585	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tgctccacaaacagaagtctCagctagacacttttcttgac	6	12	2	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:119043585C>G	ENST00000334464.5	-	5	2898	c.2659G>C	c.(2659-2661)Gag>Cag	p.E887Q	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	887					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)		ACAGAAGTCTCAGCTAGACAC	0.433																																						ENST00000334464.5																			0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(2659-2661)Gag>Cag		PDZ domain containing 8							79	73	75					10																	119043585		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119043585C>G	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.2659G>C	10.37:g.119043585C>G	ENSP00000334642:p.Glu887Gln		Somatic					p.E887Q	NM_173791.3	NP_776152.1	WXS	Illumina GAIIx	Phase_I	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2898	-		Colorectal(252;0.19)	887					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.2659G>C	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848101	0.71603	.	.	ENSG00000165650	ENST00000334464	D	0.84589	-1.87	5.52	5.52	0.82312	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.000000	0.85682	D	0.000000	D	0.89287	0.6672	L	0.35854	1.095	0.58432	D	0.999997	D	0.76494	0.999	D	0.75020	0.985	D	0.89262	0.3598	10	0.51188	T	0.08	-17.8691	19.43	0.94760	0.0:1.0:0.0:0.0	.	887	Q8NEN9	PDZD8_HUMAN	Q	887	ENSP00000334642:E887Q	ENSP00000334642:E887Q	E	-	1	0	PDZD8	119033575	1.000000	0.71417	0.963000	0.40424	0.980000	0.70556	7.818000	0.86416	2.590000	0.87494	0.563000	0.77884	GAG		0.433	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		8	53	0	0	0	1	0	8	53					G	119043585	C	G	119043585	3	3	37	1	0	0	0	0	1	0	0	0	11714	835	29	2	809	2	PDZD8	10	119043585	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	689232	119043585	16491162	193	3557										
MKI67	4288	broad.mit.edu	37	chr10	129900912	129900912	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttcatgtcgttgctgttcagCtcttccgcaggttcaattct	8	11	5	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:129900912C>G	ENST00000368654.3	-	13	9567	c.9192G>C	c.(9190-9192)gaG>gaC	p.E3064D	MKI67_ENST00000368653.3_Missense_Mutation_p.E2704D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3064					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)				TGCTGTTCAGCTCTTCCGCAG	0.448																																						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.(9190-9192)gaG>gaC		marker of proliferation Ki-67							262	236	245					10																	129900912		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129900912C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9192G>C	10.37:g.129900912C>G	ENSP00000357643:p.Glu3064Asp		Somatic				MKI67_ENST00000368653.3_Missense_Mutation_p.E2704D	p.E3064D	NM_002417.4	NP_002408.3	WXS	Illumina GAIIx	Phase_I	P46013	KI67_HUMAN			13	9567	-		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)	3064					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.9192G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	8.799	0.932368	0.18131	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01599	4.78;4.74	3.72	-7.45	0.01374	.	2.024690	0.02319	N	0.072821	T	0.01092	0.0036	N	0.17082	0.46	0.09310	N	1	B;B;B	0.17038	0.02;0.02;0.012	B;B;B	0.12837	0.008;0.008;0.004	T	0.46693	-0.9173	10	0.17369	T	0.5	.	2.0883	0.03650	0.151:0.3524:0.1058:0.3908	.	3063;2704;3064	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	D	3064;2704;3063	ENSP00000357643:E3064D;ENSP00000357642:E2704D	ENSP00000357642:E2704D	E	-	3	2	MKI67	129790902	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.421000	0.07053	-2.830000	0.00339	-0.457000	0.05445	GAG		0.448	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		10	92	0	0	0	1	0	10	92					G	129900912	C	G	129900912	3	3	37	1	0	0	0	0	1	0	0	0	9607	796	28	5	590	5	MKI67	10	129900912	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	10857327	129900912	5633835	194	3558										
INPP5A	3632	broad.mit.edu	37	chr10	134563349	134563349	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cgagacaacaacggcaccgcGgtgagtttgtggtccaatgt	13	10	0	2	rs142848612		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:134563349G>A	ENST00000368594.3	+	11	1180	c.903G>A	c.(901-903)gcG>gcA	p.A301A	INPP5A_ENST00000368593.3_Splice_Site_p.A301A	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	301					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		ACGGCACCGCGGTGAGTTTGT	0.562																																					Pancreas(63;823 1267 11107 20380 51626)	ENST00000368594.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e11+1		inositol polyphosphate-5-phosphatase, 40kDa		G		0,4406		0,0,2203	90	83	85		903	4.1	1	10	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	INPP5A	NM_005539.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		301/413	134563349	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134563349G>A	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"CTCL tumor antigen HD-CL-02", "43 kDa inositol polyphosphate 5-phophatase", "inositol polyphosphate 5-phophatase, 40kDa", "InsP3 5-phosphatase", "type I inositol-1,4,5-trisphosphate 5-phosphatase"	600106	"inositol polyphosphate-5-phosphatase, 40kD"			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.903+1G>A	10.37:g.134563349G>A			Somatic				INPP5A_ENST00000368593.3_Splice_Site_p.A301_splice	p.A301_splice	NM_005539.3	NP_005530.3	WXS	Illumina GAIIx	Phase_I	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	11	1180	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	301					D3DXI3|Q14640|Q5JSF1	Splice_Site	SNP	ENST00000368594.3	37	c.903_splice	CCDS7669.2																																																																																				0.562	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539	Silent	17	81	0	0	0	1	0	17	81					A	134563349	G	A	134563349	5	1	37	1	0	0	0	0	0	0	1	0	7763	1130	39	1	945	1	INPP5A	10	134563349	Splice_Site	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	4662437	134563349	971398	195	3559										
DCHS1	8642	broad.mit.edu	37	chr11	6655238	6655238	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	acaccttcacatataccatgGacttgaggcctccctggtgg	9	13	1	1	rs146086570	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:6655238G>C	ENST00000299441.3	-	4	2411	c.2000C>G	c.(1999-2001)tCc>tGc	p.S667C	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	667	Cadherin 6. {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)		ATATACCATGGACTTGAGGCC	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.(1999-2001)tCc>tGc		dachsous cadherin-related 1		G	CYS/SER	0,4402		0,0,2201	64	64	64		2000	4.6	1	11	dbSNP_134	64	3,8589	3.0+/-9.4	0,3,4293	yes	missense	DCHS1	NM_003737.2	112	0,3,6494	CC,CG,GG		0.0349,0.0,0.0231	probably-damaging	667/3299	6655238	3,12991	2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6655238G>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.2000C>G	11.37:g.6655238G>C	ENSP00000299441:p.Ser667Cys		Somatic				RP11-732A19.6_ENST00000526633.1_RNA	p.S667C	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)	4	2411	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	667			Cadherin 6.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.2000C>G	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920078	0.73098	0.0	3.49E-4	ENSG00000166341	ENST00000299441	T	0.55052	0.54	4.59	4.59	0.56863	Cadherin (4);Cadherin-like (1);	0.000000	0.41097	D	0.000942	T	0.71542	0.3352	M	0.75447	2.3	0.58432	D	0.99999	D	0.89917	1.0	D	0.85130	0.997	T	0.75414	-0.3326	10	0.72032	D	0.01	.	14.721	0.69305	0.0:0.0:1.0:0.0	.	667	Q96JQ0	PCD16_HUMAN	C	667	ENSP00000299441:S667C	ENSP00000299441:S667C	S	-	2	0	DCHS1	6611814	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.571000	0.90752	2.397000	0.81536	0.561000	0.74099	TCC		0.552	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		9	60	0	0	0	1	0	9	60					C	6655238	G	C	6655238	3	2	37	1	0	0	0	0	1	0	0	0	4289	1174	41	2	7968	2	DCHS1	11	6655238	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08		6655238	128351278	196	3560										
MICAL2	9645	broad.mit.edu	37	chr11	12280035	12280035	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gcaaattttactgcaagcctCacttcattcactgtaaaacc	4	12	3	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:12280035C>T	ENST00000256194.4	+	25	3451	c.3163C>T	c.(3163-3165)Cac>Tac	p.H1055Y	RP11-265D17.2_ENST00000527288.1_RNA|MICAL2_ENST00000537344.1_Missense_Mutation_p.H865Y|MICAL2_ENST00000527546.1_Missense_Mutation_p.H865Y|MICAL2_ENST00000342902.5_Missense_Mutation_p.H1034Y|MICAL2_ENST00000379612.3_Missense_Mutation_p.H829Y	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1055	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CTGCAAGCCTCACTTCATTCA	0.418																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(3163-3165)Cac>Tac		microtubule associated monooxygenase, calponin and LIM domain containing 2							102	102	102					11																	12280035		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12280035C>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3163C>T	11.37:g.12280035C>T	ENSP00000256194:p.His1055Tyr		Somatic				MICAL2_ENST00000537344.1_Missense_Mutation_p.H865Y|MICAL2_ENST00000342902.5_Missense_Mutation_p.H1034Y|MICAL2_ENST00000527546.1_Missense_Mutation_p.H865Y|MICAL2_ENST00000379612.3_Missense_Mutation_p.H829Y	p.H1055Y	NM_014632.2	NP_055447.1	WXS	Illumina GAIIx	Phase_I	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	25	3451	+			1055			LIM zinc-binding.		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.3163C>T	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800482	0.90538	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	5.69	5.69	0.88448	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.96993	0.9018	H	0.97962	4.115	0.46078	D	0.998856	D;D;D;P;D;D	0.76494	0.988;0.991;0.999;0.94;0.999;0.997	P;P;D;D;D;D	0.83275	0.88;0.851;0.996;0.937;0.996;0.945	D	0.98128	1.0429	10	0.87932	D	0	.	19.4007	0.94629	0.0:1.0:0.0:0.0	.	398;1034;865;808;829;1055	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	Y	865;398;1055;865;1034;829	ENSP00000441689:H865Y;ENSP00000256194:H1055Y;ENSP00000433965:H865Y;ENSP00000344894:H1034Y;ENSP00000368932:H829Y	ENSP00000256194:H1055Y	H	+	1	0	MICAL2	12236611	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.500000	0.81588	2.682000	0.91365	0.655000	0.94253	CAC		0.418	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		4	84	0	0	0	1	0	4	84					T	12280035	C	T	12280035	3	4	37	1	0	0	0	0	1	0	0	0	9579	826	29	3	3253	3	MICAL2	11	12280035	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	5624797	12280035	122726481	197	3561										
COPB1	1315	broad.mit.edu	37	chr11	14490983	14490983	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	attcattaaaggtgaacattCagacaagaccttgaggcaca	8	8	2	4			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:14490983C>G	ENST00000249923.3	-	15	2164	c.1864G>C	c.(1864-1866)Gaa>Caa	p.E622Q	COPB1_ENST00000439561.2_Missense_Mutation_p.E622Q	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	622					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						GGTGAACATTCAGACAAGACC	0.388																																						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.(1864-1866)Gaa>Caa		coatomer protein complex, subunit beta 1							155	145	149					11																	14490983		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.chr11:14490983C>G	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.1864G>C	11.37:g.14490983C>G	ENSP00000249923:p.Glu622Gln		Somatic				COPB1_ENST00000439561.2_Missense_Mutation_p.E622Q	p.E622Q	NM_016451.4	NP_057535.1	WXS	Illumina GAIIx	Phase_I	P53618	COPB_HUMAN			15	2164	-			622					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1864G>C	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557450	0.65425	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.12361	2.69;2.69	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	N	0.26042	0.785	0.80722	D	1	B	0.09022	0.002	B	0.14023	0.01	T	0.08534	-1.0717	10	0.35671	T	0.21	0.378	20.2983	0.98569	0.0:1.0:0.0:0.0	.	622	P53618	COPB_HUMAN	Q	622	ENSP00000249923:E622Q;ENSP00000397873:E622Q	ENSP00000249923:E622Q	E	-	1	0	COPB1	14447559	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.535000	0.82014	2.802000	0.96397	0.655000	0.94253	GAA		0.388	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		4	59	0	0	0	1	0	4	59					G	14490983	C	G	14490983	3	3	37	1	0	0	0	0	1	0	0	0	3730	835	29	2	1029	2	COPB1	11	14490983	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	2210948	14490983	120515533	198	3562										
PRR5L	79899	broad.mit.edu	37	chr11	36484194	36484194	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cccaccggcagtgctccagtGagcccaacatcactgacaac	8	17	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:36484194G>C	ENST00000378867.3	+	10	1370	c.1015G>C	c.(1015-1017)Gag>Cag	p.E339Q	PRR5L_ENST00000530639.1_Missense_Mutation_p.E339Q|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Missense_Mutation_p.E266Q	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	339					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GTGCTCCAGTGAGCCCAACAT	0.667																																						ENST00000378867.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						c.(1015-1017)Gag>Cag		proline rich 5 like							31	32	31					11																	36484194		2202	4297	6499	SO:0001583	missense	79899							g.chr11:36484194G>C		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"protein observed with Rictor-2"	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.1015G>C	11.37:g.36484194G>C	ENSP00000368144:p.Glu339Gln		Somatic				PRR5L_ENST00000311599.5_Missense_Mutation_p.E266Q|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Missense_Mutation_p.E339Q	p.E339Q	NM_024841.4	NP_079117.3	WXS	Illumina GAIIx	Phase_I	Q6MZQ0	PRR5L_HUMAN			10	1370	+			339					A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	37	c.1015G>C	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395235	0.62066	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	D;D;D	0.81908	-1.55;-1.55;-1.55	5.41	5.41	0.78517	.	0.058176	0.64402	D	0.000002	D	0.87826	0.6275	L	0.36672	1.1	0.49483	D	0.999792	P;D	0.76494	0.946;0.999	P;D	0.81914	0.723;0.995	D	0.88464	0.3057	10	0.59425	D	0.04	-22.5054	19.2048	0.93726	0.0:0.0:1.0:0.0	.	211;339	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	Q	339;266;339	ENSP00000435050:E339Q;ENSP00000310103:E266Q;ENSP00000368144:E339Q	ENSP00000310103:E266Q	E	+	1	0	PRR5L	36440770	1.000000	0.71417	0.981000	0.43875	0.354000	0.29330	6.112000	0.71547	2.534000	0.85438	0.555000	0.69702	GAG		0.667	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		11	38	0	0	0	1	0	11	38					C	36484194	G	C	36484194	3	2	37	1	0	0	0	0	1	0	0	0	12614	1291	45	2	1051	2	PRR5L	11	36484194	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	21993211	36484194	98522322	199	3563										
OR4C16	219428	broad.mit.edu	37	chr11	55339928	55339928	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cccatgtctttggctgcctgGagatcttcatcctcatcctc	7	15	4	1	rs556810624	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:55339928G>C	ENST00000314634.3	+	1	325	c.325G>C	c.(325-327)Gag>Cag	p.E109Q		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGGCTGCCTGGAGATCTTCAT	0.483																																						ENST00000314634.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(325-327)Gag>Cag		olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)							222	214	217					11																	55339928		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339928G>C	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.325G>C	11.37:g.55339928G>C	ENSP00000324913:p.Glu109Gln		Somatic					p.E109Q	NM_001004701.2	NP_001004701.2	WXS	Illumina GAIIx	Phase_I	Q8NGL9	OR4CG_HUMAN			1	325	+		all_epithelial(135;0.0748)	109					Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.325G>C	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242860	0.39598	.	.	ENSG00000181935	ENST00000314634	T	0.39997	1.05	4.88	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.089760	0.48286	D	0.000199	T	0.49712	0.1573	M	0.86502	2.82	0.09310	N	1	P	0.40553	0.721	B	0.39562	0.303	T	0.54715	-0.8252	10	0.87932	D	0	.	12.1972	0.54305	0.0:0.0:0.8279:0.1721	.	109	Q8NGL9	OR4CG_HUMAN	Q	109	ENSP00000324913:E109Q	ENSP00000324913:E109Q	E	+	1	0	OR4C16	55096504	0.015000	0.18098	0.998000	0.56505	0.977000	0.68977	1.657000	0.37366	1.263000	0.44181	0.549000	0.68633	GAG		0.483	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		17	126	0	0	0	1	0	17	126					C	55339928	G	C	55339928	3	2	37	1	0	0	0	0	1	0	0	0	11058	1175	41	2	327	2	OR4C16	11	55339928	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	18855734	55339928	79666588	200	3564										
YPEL4	219539	broad.mit.edu	37	chr11	57413814	57413814	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gcagctctcacagaaaatgtCagctaccgagtggagccccg	11	13	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:57413814C>T	ENST00000524669.1	-	4	2972	c.250G>A	c.(250-252)Gac>Aac	p.D84N	YPEL4_ENST00000300022.3_Missense_Mutation_p.D84N|YPEL4_ENST00000531442.1_5'Flank|YPEL4_ENST00000534711.1_Missense_Mutation_p.D84N|AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000544993.1_Missense_Mutation_p.D84N			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)	84						nucleus (GO:0005634)				lung(2)|skin(1)	3						CAGAAAATGTCAGCTACCGAG	0.567																																						ENST00000524669.1																			0				lung(2)|skin(1)	3						c.(250-252)Gac>Aac		yippee-like 4 (Drosophila)							87	82	84					11																	57413814		2201	4296	6497	SO:0001583	missense	219539					nucleolus		g.chr11:57413814C>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.250G>A	11.37:g.57413814C>T	ENSP00000432648:p.Asp84Asn		Somatic				YPEL4_ENST00000544993.1_Missense_Mutation_p.D84N|YPEL4_ENST00000534711.1_Missense_Mutation_p.D84N|YPEL4_ENST00000300022.3_Missense_Mutation_p.D84N|AP000662.4_ENST00000530595.1_RNA	p.D84N			WXS	Illumina GAIIx	Phase_I	Q96NS1	YPEL4_HUMAN			4	2972	-			84					B3KW92|Q2M3U7|Q65Z98	Missense_Mutation	SNP	ENST00000524669.1	37	c.250G>A	CCDS7963.1	.	.	.	.	.	.	.	.	.	.	C	36	5.756865	0.96898	.	.	ENSG00000166793	ENST00000524669;ENST00000300022;ENST00000544993;ENST00000534711	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000004	D	0.86847	0.6031	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90413	0.4411	9	0.87932	D	0	-7.618	18.3334	0.90279	0.0:1.0:0.0:0.0	.	84	Q96NS1	YPEL4_HUMAN	N	84	.	ENSP00000300022:D84N	D	-	1	0	YPEL4	57170390	1.000000	0.71417	0.966000	0.40874	0.986000	0.74619	7.578000	0.82498	2.414000	0.81942	0.555000	0.69702	GAC		0.567	YPEL4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393370.1	NM_145008		6	75	0	0	0	1	0	6	75					T	57413814	C	T	57413814	3	4	37	1	0	0	0	0	1	0	0	0	17507	826	29	3	141	3	YPEL4	11	57413814	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	2073886	57413814	77592702	201	3565										
UBXN1	51035	broad.mit.edu	37	chr11	62444465	62444465	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctgggtcagtgaggtcccatCtggcagcctgacctaaaggg	14	11	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:62444465C>T	ENST00000301935.5	-	8	830	c.664G>A	c.(664-666)Gat>Aat	p.D222N	UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000294119.2_Missense_Mutation_p.D222N|UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000529640.1_Missense_Mutation_p.D218N			Q04323	UBXN1_HUMAN	UBX domain protein 1	222	Interaction with BRCA1.|UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				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						GAGGTCCCATCTGGCAGCCTG	0.582																																						ENST00000294119.2																			0				endometrium(5)|lung(12)	17						c.(664-666)Gat>Aat		UBX domain protein 1							46	48	47					11																	62444465		2202	4299	6501	SO:0001583	missense	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62444465C>T		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"UBX domain containing"	18402	protein-coding gene	gene with protein product	"SAPK substrate protein 1"					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.664G>A	11.37:g.62444465C>T	ENSP00000303991:p.Asp222Asn		Somatic				UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000529640.1_Missense_Mutation_p.D218N|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000301935.5_Missense_Mutation_p.D222N	p.D222N	NM_015853.3	NP_056937.2	WXS	Illumina GAIIx	Phase_I	Q04323	UBXN1_HUMAN			8	795	-			222			Interaction with BRCA1.|UBX.		Q9BV93|Q9BVV5	Missense_Mutation	SNP	ENST00000301935.5	37	c.664G>A		.	.	.	.	.	.	.	.	.	.	C	16.28	3.079631	0.55753	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000537534;ENST00000529640;ENST00000534176	T;T;T;T	0.28454	1.61;1.62;1.65;1.62	5.35	5.35	0.76521	UBX (3);	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	L	0.34521	1.04	0.80722	D	1	D;P;P	0.89917	1.0;0.592;0.504	D;B;B	0.91635	0.999;0.326;0.227	T	0.04454	-1.0950	10	0.15066	T	0.55	-17.36	17.3711	0.87377	0.0:1.0:0.0:0.0	.	218;222;222	E9PRQ7;Q04323;Q04323-2	.;UBXN1_HUMAN;.	N	222;222;125;218;222	ENSP00000294119:D222N;ENSP00000303991:D222N;ENSP00000435964:D218N;ENSP00000435625:D222N	ENSP00000294119:D222N	D	-	1	0	UBXN1	62201041	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.341000	0.72977	2.885000	0.99019	0.655000	0.94253	GAT		0.582	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		10	84	0	0	0	1	0	10	84					T	62444465	C	T	62444465	3	4	37	1	0	0	0	0	1	0	0	0	16926	913	32	3	278	3	UBXN1	11	62444465	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	5030651	62444465	72562051	202	3566										
TAF6L	10629	broad.mit.edu	37	chr11	62549791	62549791	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gatggggctgccctcctgctCagccacatcttctggtagcc	11	15	3	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:62549791C>G	ENST00000294168.3	+	8	1014	c.813C>G	c.(811-813)ctC>ctG	p.L271L	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	271					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						CCCTCCTGCTCAGCCACATCT	0.607																																						ENST00000294168.3																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						c.(811-813)ctC>ctG		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							47	52	50					11																	62549791		2201	4299	6500	SO:0001819	synonymous_variant	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62549791C>G	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.813C>G	11.37:g.62549791C>G			Somatic				TMEM223_ENST00000527073.1_Intron	p.L271L	NM_006473.3	NP_006464.1	WXS	Illumina GAIIx	Phase_I	Q9Y6J9	TAF6L_HUMAN			8	1014	+			271					B2RAT0|Q96HA6	Silent	SNP	ENST00000294168.3	37	c.813C>G	CCDS8035.1																																																																																				0.607	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		37	100	0	0	0	1	0	37	100					G	62549791	C	G	62549791	2	3	37	1	0	0	0	0	0	0	0	1	15546	813	29	2		2	TAF6L	11	62549791	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	105326	62549791	72456725	203	3567										
PLCB3	5331	broad.mit.edu	37	chr11	64033632	64033632	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cagggaggtcgtccttgatgCaaacacaactcagttcaaga	10	10	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:64033632C>G	ENST00000540288.1	+	27	3327	c.3224C>G	c.(3223-3225)gCa>gGa	p.A1075G	PLCB3_ENST00000325234.5_Missense_Mutation_p.A1008G|PLCB3_ENST00000279230.6_Missense_Mutation_p.A1075G	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1075					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GTCCTTGATGCAAACACAACT	0.567																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(3223-3225)gCa>gGa		phospholipase C, beta 3 (phosphatidylinositol-specific)							106	110	109					11																	64033632		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64033632C>G	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3224C>G	11.37:g.64033632C>G	ENSP00000443631:p.Ala1075Gly		Somatic				PLCB3_ENST00000325234.5_Missense_Mutation_p.A1008G|PLCB3_ENST00000279230.6_Missense_Mutation_p.A1075G	p.A1075G	NM_000932.2	NP_000923.1	WXS	Illumina GAIIx	Phase_I	Q01970	PLCB3_HUMAN			27	3327	+			1075					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.3224C>G	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	C	7.337	0.620032	0.14193	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.43688	0.94;0.94;0.94	5.05	4.14	0.48551	PLC-beta, C-terminal (1);	0.287659	0.37577	N	0.002024	T	0.28366	0.0701	L	0.29908	0.895	0.09310	N	1	B;B	0.23249	0.082;0.076	B;B	0.25759	0.03;0.063	T	0.15235	-1.0444	10	0.30078	T	0.28	.	7.2222	0.25994	0.0:0.7357:0.1713:0.0929	.	1008;1075	G5E960;Q01970	.;PLCB3_HUMAN	G	1075;1075;1008	ENSP00000279230:A1075G;ENSP00000443631:A1075G;ENSP00000324660:A1008G	ENSP00000279230:A1075G	A	+	2	0	PLCB3	63790208	0.034000	0.19679	0.020000	0.16555	0.261000	0.26267	1.409000	0.34680	1.138000	0.42230	0.462000	0.41574	GCA		0.567	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			10	164	0	0	0	1	0	10	164					G	64033632	C	G	64033632	3	3	37	1	0	0	0	0	1	0	0	0	12038	710	25	5	3330	5	PLCB3	11	64033632	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	1483841	64033632	70972884	204	3568										
CDC42EP2	10435	broad.mit.edu	37	chr11	65088726	65088726	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	atcggtggaccccaggctctCaccctgcccacagcccaggc	10	19	1	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:65088726C>T	ENST00000544348.1	+	2	963	c.357C>T	c.(355-357)ctC>ctT	p.L119L	CDC42EP2_ENST00000279249.2_Silent_p.L119L|CDC42EP2_ENST00000533419.1_Silent_p.L119L			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	119					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						CCCAGGCTCTCACCCTGCCCA	0.692																																						ENST00000544348.1																			0				lung(1)	1						c.(355-357)ctC>ctT		CDC42 effector protein (Rho GTPase binding) 2							66	66	66					11																	65088726		2201	4297	6498	SO:0001819	synonymous_variant	10435				actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity	g.chr11:65088726C>T	AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"CRIB-containing BOGR1 protein"	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.357C>T	11.37:g.65088726C>T			Somatic				CDC42EP2_ENST00000279249.2_Silent_p.L119L|CDC42EP2_ENST00000533419.1_Silent_p.L119L	p.L119L			WXS	Illumina GAIIx	Phase_I	O14613	BORG1_HUMAN			2	963	+			119					B2RD85|Q9UNS0	Silent	SNP	ENST00000544348.1	37	c.357C>T	CCDS8099.1																																																																																				0.692	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387258.1	NM_006779		13	77	0	0	0	1	0	13	77					T	65088726	C	T	65088726	2	4	37	1	0	0	0	0	0	0	0	1	3078	813	29	3		3	CDC42EP2	11	65088726	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	1055094	65088726	69917790	205	3569										
C2CD3	26005	broad.mit.edu	37	chr11	73850728	73850728	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tatgtatgtcgcgaggccttGatggaacctgaaactgggta	13	7	0	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:73850728G>C	ENST00000334126.7	-	4	855	c.629C>G	c.(628-630)tCa>tGa	p.S210*	C2CD3_ENST00000313663.7_Nonsense_Mutation_p.S210*|C2CD3_ENST00000539061.1_Nonsense_Mutation_p.S210*			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	210					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCGAGGCCTTGATGGAACCTG	0.438																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(628-630)tCa>tGa		C2 calcium-dependent domain containing 3							232	232	232					11																	73850728		2200	4293	6493	SO:0001587	stop_gained	26005					centrosome		g.chr11:73850728G>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.629C>G	11.37:g.73850728G>C	ENSP00000334379:p.Ser210*		Somatic				C2CD3_ENST00000313663.7_Nonsense_Mutation_p.S210*|C2CD3_ENST00000539061.1_Nonsense_Mutation_p.S210*	p.S210*			WXS	Illumina GAIIx	Phase_I	Q4AC94	C2CD3_HUMAN			4	855	-	Breast(11;4.16e-06)		210					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Nonsense_Mutation	SNP	ENST00000334126.7	37	c.629C>G		.	.	.	.	.	.	.	.	.	.	G	14.86	2.662589	0.47572	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	.	.	.	5.74	4.83	0.62350	.	0.524964	0.17188	N	0.183605	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-0.7067	11.9667	0.53040	0.0813:0.0:0.9187:0.0	.	.	.	.	X	210	.	ENSP00000289350:S210X	S	-	2	0	C2CD3	73528376	0.839000	0.29477	0.162000	0.22713	0.297000	0.27493	6.161000	0.71868	1.439000	0.47511	-0.142000	0.14014	TCA		0.438	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		25	170	0	0	0	1	0	25	170					C	73850728	G	C	73850728	4	2	37	1	0	0	0	0	0	1	0	0	2156	1294	45	2	5374	2	C2CD3	11	73850728	Nonsense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	8762002	73850728	61155788	206	3570										
RSF1	51773	broad.mit.edu	37	chr11	77412843	77412843	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ccctccgtgatgatatttctGtccttagaggggctatagct	10	10	1	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:77412843G>T	ENST00000308488.6	-	6	1733	c.1431C>A	c.(1429-1431)gaC>gaA	p.D477E	RSF1_ENST00000360355.2_Missense_Mutation_p.D446E|RSF1_ENST00000480887.1_Missense_Mutation_p.D225E			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	477					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)			TGATATTTCTGTCCTTAGAGG	0.398																																						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.(1429-1431)gaC>gaA		remodeling and spacing factor 1							122	120	121					11																	77412843		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.chr11:77412843G>T	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.1431C>A	11.37:g.77412843G>T	ENSP00000311513:p.Asp477Glu		Somatic				RSF1_ENST00000360355.2_Missense_Mutation_p.D446E|RSF1_ENST00000480887.1_Missense_Mutation_p.D225E	p.D477E			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	1733	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		477					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.1431C>A	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	G	1.753	-0.488749	0.04352	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;T;D;T;T	0.81659	-1.52;-1.42;-1.51;-1.29;1.91	5.54	-1.85	0.07784	.	0.339854	0.25469	N	0.030443	T	0.53417	0.1795	N	0.20986	0.625	0.28743	N	0.901854	B	0.06786	0.001	B	0.06405	0.002	T	0.37478	-0.9704	10	0.06494	T	0.89	-3.853	0.1504	0.00092	0.2522:0.189:0.2625:0.2963	.	477	Q96T23	RSF1_HUMAN	E	477;225;446;278;476	ENSP00000311513:D477E;ENSP00000434509:D225E;ENSP00000353511:D446E;ENSP00000432022:D278E;ENSP00000436408:D476E	ENSP00000311513:D477E	D	-	3	2	RSF1	77090491	0.938000	0.31826	0.156000	0.22583	0.969000	0.65631	0.167000	0.16602	-0.229000	0.09854	0.655000	0.94253	GAC		0.398	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		8	79	1	0	0.00307968	1	0.00314474	8	79					T	77412843	G	T	77412843	3	4	37	1	0	0	0	0	1	0	0	0	13714	1368	48	5	2938	5	RSF1	11	77412843	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	3562115	77412843	57593673	207	3571										
TMEM123	114908	broad.mit.edu	37	chr11	102272784	102272784	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tggtagaagtcatatttgttGagaccatccctggtgttgtt	11	6	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:102272784G>T	ENST00000398136.2	-	3	731	c.311C>A	c.(310-312)tCa>tAa	p.S104*	TMEM123_ENST00000361236.3_Nonsense_Mutation_p.S85*|TMEM123_ENST00000532161.1_Nonsense_Mutation_p.S16*|TMEM123_ENST00000525577.1_5'UTR	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	104	Thr-rich.				oncosis (GO:0070267)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		CATATTTGTTGAGACCATCCC	0.438																																						ENST00000398136.2																			0				breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(310-312)tCa>tAa		transmembrane protein 123							477	439	451					11																	102272784		2007	4170	6177	SO:0001587	stop_gained	114908				oncosis	external side of plasma membrane|integral to membrane	receptor activity	g.chr11:102272784G>T	AL050161	CCDS41702.1	11q22.1	2014-01-02			ENSG00000152558	ENSG00000152558			30138	protein-coding gene	gene with protein product	"pro oncosis receptor inducing membrane injury gene"	606356				11481458, 24318988	Standard	NM_052932		Approved	PORIMIN, KCT3	uc001pha.3	Q8N131	OTTHUMG00000167326	ENST00000398136.2:c.311C>A	11.37:g.102272784G>T	ENSP00000381204:p.Ser104*		Somatic				TMEM123_ENST00000532161.1_Nonsense_Mutation_p.S16*|TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000361236.3_Nonsense_Mutation_p.S85*	p.S104*	NM_052932.2	NP_443164.2	WXS	Illumina GAIIx	Phase_I	Q8N131	PORIM_HUMAN	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)	3	731	-	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	104			Thr-rich.		Q8IWS2|Q96QV2	Nonsense_Mutation	SNP	ENST00000398136.2	37	c.311C>A	CCDS41702.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168806	0.38315	.	.	ENSG00000152558	ENST00000361236;ENST00000398136;ENST00000532161;ENST00000528969;ENST00000531103	.	.	.	4.51	3.57	0.40892	.	1.964030	0.02441	N	0.084565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.732	9.2202	0.37373	0.1055:0.0:0.8945:0.0	.	.	.	.	X	85;104;16;16;16	.	ENSP00000355285:S85X	S	-	2	0	TMEM123	101777994	0.361000	0.24972	0.004000	0.12327	0.013000	0.08279	1.853000	0.39358	1.008000	0.39264	0.563000	0.77884	TCA		0.438	TMEM123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394178.1	NM_052932		19	180	1	0	2.94398e-08	1	3.16206e-08	19	180					T	102272784	G	T	102272784	4	4	37	1	0	0	0	0	0	1	0	0	16051	1294	45	2	327	2	TMEM123	11	102272784	Nonsense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	24859941	102272784	32733732	208	3572										
FDXACB1	91893	broad.mit.edu	37	chr11	111747359	111747359	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tacatgaaaggacttatcttGactcctggcaaaatagacac	7	9	1	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:111747359G>C	ENST00000260257.4	-	4	585	c.538C>G	c.(538-540)Caa>Gaa	p.Q180E	C11orf1_ENST00000528125.1_5'Flank|C11orf1_ENST00000260276.3_5'Flank|FDXACB1_ENST00000542429.1_Missense_Mutation_p.Q31E|ALG9_ENST00000524880.1_Missense_Mutation_p.Q180E|C11orf1_ENST00000530214.1_5'Flank|ALG9_ENST00000527377.1_5'UTR	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	180					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						GACTTATCTTGACTCCTGGCA	0.388																																						ENST00000524880.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(538-540)Caa>Gaa		ALG9, alpha-1,2-mannosyltransferase							73	70	71					11																	111747359		1879	4111	5990	SO:0001583	missense	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111747359G>C		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"hypothetical protein BC006136"						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.538C>G	11.37:g.111747359G>C	ENSP00000260257:p.Gln180Glu		Somatic				FDXACB1_ENST00000542429.1_Missense_Mutation_p.Q31E|FDXACB1_ENST00000260257.4_Missense_Mutation_p.Q180E|ALG9_ENST00000527377.1_5'UTR	p.Q180E			WXS	Illumina GAIIx	Phase_I	Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	4	830	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	0					A0PJW7|B4DUU2	Missense_Mutation	SNP	ENST00000260257.4	37	c.538C>G	CCDS44729.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064717	0.76187	.	.	ENSG00000086848;ENSG00000255561;ENSG00000255561;ENSG00000255561	ENST00000428306;ENST00000260257;ENST00000542429;ENST00000528274	T;T;T	0.75704	0.27;-0.96;0.74	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.86855	0.6033	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.86471	0.1785	10	0.59425	D	0.04	.	20.2983	0.98569	0.0:0.0:1.0:0.0	.	180	Q9BRP7	FDXA1_HUMAN	E	180;180;31;91	ENSP00000260257:Q180E;ENSP00000441304:Q31E;ENSP00000435572:Q91E	ENSP00000387627:Q180E	Q	-	1	0	FDXACB1;ALG9	111252569	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.230000	0.78097	2.802000	0.96397	0.655000	0.94253	CAA		0.388	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		5	47	0	0	0	1	0	5	47					C	111747359	G	C	111747359	3	2	37	1	0	0	0	0	1	0	0	0	5814	1299	45	2	1344	2	FDXACB1	11	111747359	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	9474575	111747359	23259157	209	3573										
PCSK7	9159	broad.mit.edu	37	chr11	117090319	117090319	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tatctcacccgggtggctgtGaagacaatgatgtgctggac	13	9	1	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:117090319G>A	ENST00000320934.3	-	10	1941	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	PCSK7_ENST00000540028.1_Silent_p.F78F	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	437	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGGTGGCTGTGAAGACAATGA	0.592			T	IGH@	MLCLS																																	ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(1309-1311)ttC>ttT		proprotein convertase subtilisin/kexin type 7							60	46	51					11																	117090319		2201	4296	6497	SO:0001819	synonymous_variant	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117090319G>A	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1311C>T	11.37:g.117090319G>A			Somatic				PCSK7_ENST00000540028.1_Silent_p.F78F	p.F437F	NM_004716.2	NP_004707.2	WXS	Illumina GAIIx	Phase_I	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	10	1941	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	437			Catalytic.		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	37	c.1311C>T	CCDS8382.1																																																																																				0.592	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		6	56	0	0	0	1	0	6	56					A	117090319	G	A	117090319	2	1	37	1	0	0	0	0	0	0	0	1	11614	1281	45	3		3	PCSK7	11	117090319	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	5342960	117090319	17916197	210	3574										
DSCAML1	57453	broad.mit.edu	37	chr11	117303881	117303881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cttgatgccttctttgtcctCgatgagcagctggaccctgg	11	12	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:117303881C>T	ENST00000321322.6	-	29	5180	c.5179G>A	c.(5179-5181)Gag>Aag	p.E1727K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1457K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1667					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)		TCTTTGTCCTCGATGAGCAGC	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.(5179-5181)Gag>Aag		Down syndrome cell adhesion molecule like 1							120	102	108					11																	117303881		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.chr11:117303881C>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.5179G>A	11.37:g.117303881C>T	ENSP00000315465:p.Glu1727Lys		Somatic				DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1457K	p.E1727K	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)	29	5180	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1667					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.5179G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308017	0.95629	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.69685	-0.37;-0.42	5.46	4.54	0.55810	.	.	.	.	.	T	0.77903	0.4200	M	0.65498	2.005	0.80722	D	1	D	0.71674	0.998	D	0.64877	0.93	T	0.80061	-0.1540	9	0.72032	D	0.01	.	13.6358	0.62221	0.0:0.9256:0.0:0.0744	.	1667	Q8TD84	DSCL1_HUMAN	K	1457;1727;1434	ENSP00000434335:E1457K;ENSP00000315465:E1727K	ENSP00000315465:E1727K	E	-	1	0	DSCAML1	116809091	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	6.049000	0.71053	2.542000	0.85734	0.591000	0.81541	GAG		0.562	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		5	32	0	0	0	1	0	5	32					T	117303881	C	T	117303881	3	4	37	1	0	0	0	0	1	0	0	0	4771	893	31	1	1182	1	DSCAML1	11	117303881	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	213562	117303881	17702635	211	3575										
SORL1	6653	broad.mit.edu	37	chr11	121393333	121393333	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cttcatctggctcagcgcctCagtcagctcctcaacctcca	6	18	6	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:121393333C>T	ENST00000260197.7	+	10	1572	c.1443C>T	c.(1441-1443)ctC>ctT	p.L481L	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	481					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)		CTCAGCGCCTCAGTCAGCTCC	0.547																																						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.(1441-1443)ctC>ctT		sortilin-related receptor, L(DLR class) A repeats containing							179	159	166					11																	121393333		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121393333C>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1443C>T	11.37:g.121393333C>T			Somatic				SORL1_ENST00000532451.1_3'UTR	p.L481L	NM_003105.5	NP_003096.1	WXS	Illumina GAIIx	Phase_I	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	10	1572	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	481					B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.1443C>T	CCDS8436.1																																																																																				0.547	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		15	195	0	0	0	1	0	15	195					T	121393333	C	T	121393333	2	4	37	1	0	0	0	0	0	0	0	1	14949	813	29	3		3	SORL1	11	121393333	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	4089452	121393333	13613183	212	3576										
OR10G7	390265	broad.mit.edu	37	chr11	123909026	123909026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tgtgcctcccctctgaggtgCggatccgcaggatggaacag	14	12	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:123909026C>T	ENST00000330487.5	-	1	691	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTCTGAGGTGCGGATCCGCAG	0.537																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(682-684)cGc>cAc		olfactory receptor, family 10, subfamily G, member 7							138	119	126					11																	123909026		2201	4299	6500	SO:0001583	missense	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909026C>T	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.683G>A	11.37:g.123909026C>T	ENSP00000329689:p.Arg228His		Somatic					p.R228H	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	691	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	228					Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	c.683G>A	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	C	3.124	-0.179813	0.06380	.	.	ENSG00000182634	ENST00000330487	T	0.39229	1.09	3.38	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.566427	0.16064	N	0.231343	T	0.25568	0.0622	L	0.28556	0.865	0.20074	N	0.999935	B	0.09022	0.002	B	0.17979	0.02	T	0.20042	-1.0287	10	0.20046	T	0.44	.	5.6004	0.17351	0.0:0.5333:0.2729:0.1938	.	228	Q8NGN6	O10G7_HUMAN	H	228	ENSP00000329689:R228H	ENSP00000329689:R228H	R	-	2	0	OR10G7	123414236	0.000000	0.05858	0.974000	0.42286	0.400000	0.30750	-1.370000	0.02575	0.271000	0.22005	-0.232000	0.12228	CGC		0.537	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		36	85	0	0	0	1	0	36	85					T	123909026	C	T	123909026	3	4	37	1	0	0	0	0	1	0	0	0	10911	768	27	1	256	1	OR10G7	11	123909026	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	2515693	123909026	11097490	213	3577										
IGSF9B	22997	broad.mit.edu	37	chr11	133789788	133789788	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ggaagggtagccggtggccaGagtggtgaagcccatggcgg	20	8	0	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:133789788G>T	ENST00000321016.8	-	18	4062	c.3832C>A	c.(3832-3834)Ctg>Atg	p.L1278M	IGSF9B_ENST00000533871.2_Missense_Mutation_p.L1278M			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1278	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)				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)		CCGGTGGCCAGAGTGGTGAAG	0.677																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3832-3834)Ctg>Atg		immunoglobulin superfamily, member 9B							24	32	29					11																	133789788		1917	4113	6030	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133789788G>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.3832C>A	11.37:g.133789788G>T	ENSP00000317980:p.Leu1278Met		Somatic				IGSF9B_ENST00000533871.2_Missense_Mutation_p.L1278M	p.L1278M			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	4062	-	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)	1278			Pro-rich.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3832C>A		.	.	.	.	.	.	.	.	.	.	G	11.32	1.604512	0.28623	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.66638	0.11;-0.22	4.76	4.76	0.60689	.	0.000000	0.34067	N	0.004284	T	0.46268	0.1384	N	0.08118	0	0.25700	N	0.985593	P	0.50943	0.94	B	0.41571	0.36	T	0.49606	-0.8922	10	0.59425	D	0.04	.	12.0779	0.53655	0.0842:0.0:0.9158:0.0	.	1278	Q9UPX0	TUTLB_HUMAN	M	1278;1120	ENSP00000317980:L1278M;ENSP00000436552:L1120M	ENSP00000317980:L1278M	L	-	1	2	IGSF9B	133294998	0.734000	0.28142	0.981000	0.43875	0.752000	0.42762	1.044000	0.30329	2.484000	0.83849	0.555000	0.69702	CTG		0.677	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		5	30	1	0	0.000602214	1	0.000623722	5	30					T	133789788	G	T	133789788	3	4	37	1	0	0	0	0	1	0	0	0	7615	933	33	2	225	2	IGSF9B	11	133789788	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	9880762	133789788	1216728	214	3578										
NCAPD3	23310	broad.mit.edu	37	chr11	134027892	134027892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cactcctaagctccgactccGatgcctgctctttgactcca	6	17	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:134027892G>A	ENST00000534548.2	-	31	4169	c.4105C>T	c.(4105-4107)Cgg>Tgg	p.R1369W		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1369					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)		CTCCGACTCCGATGCCTGCTC	0.507																																						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.(4105-4107)Cgg>Tgg		non-SMC condensin II complex, subunit D3							180	178	178					11																	134027892		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134027892G>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.4105C>T	11.37:g.134027892G>A	ENSP00000433681:p.Arg1369Trp		Somatic					p.R1369W	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)	31	4169	-	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)	1369					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.4105C>T	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084514	0.55861	.	.	ENSG00000151503	ENST00000534548	T	0.34859	1.34	5.72	-0.571	0.11749	.	1.248890	0.05615	N	0.578705	T	0.35682	0.0940	L	0.42245	1.32	0.09310	N	1	D;D	0.62365	0.991;0.991	B;B	0.44315	0.446;0.425	T	0.49011	-0.8983	10	0.72032	D	0.01	0.2469	11.7198	0.51675	0.0:0.1:0.4269:0.4731	.	1369;429	P42695;Q96FA6	CNDD3_HUMAN;.	W	1369	ENSP00000433681:R1369W	ENSP00000433681:R1369W	R	-	1	2	NCAPD3	133533102	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.653000	0.24902	0.021000	0.15133	0.561000	0.74099	CGG		0.507	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		20	200	0	0	0	1	0	20	200					A	134027892	G	A	134027892	3	1	37	1	0	0	0	0	1	0	0	0	10215	1057	37	1	411	1	NCAPD3	11	134027892	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	238104	134027892	978624	215	3579										
SLC6A12	6539	broad.mit.edu	37	chr12	307135	307135	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	acccctggcagatggcaaagGagaagaagatctgggtgccc	14	10	1	4			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:307135G>T	ENST00000428720.1	-	9	1624	c.881C>A	c.(880-882)tCc>tAc	p.S294Y	SLC6A12_ENST00000397296.2_Missense_Mutation_p.S294Y|SLC6A12_ENST00000424061.2_Missense_Mutation_p.S294Y|SLC6A12_ENST00000359674.4_Missense_Mutation_p.S294Y|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000536824.1_Missense_Mutation_p.S294Y	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	294					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GATGGCAAAGGAGAAGAAGAT	0.587																																						ENST00000428720.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26						c.(880-882)tCc>tAc		solute carrier family 6 (neurotransmitter transporter), member 12							84	92	89					12																	307135		2203	4300	6503	SO:0001583	missense	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:307135G>T	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"Solute carriers"	11045	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.881C>A	12.37:g.307135G>T	ENSP00000388184:p.Ser294Tyr		Somatic				SLC6A12_ENST00000397296.2_Missense_Mutation_p.S294Y|SLC6A12_ENST00000536824.1_Missense_Mutation_p.S294Y|SLC6A12_ENST00000359674.4_Missense_Mutation_p.S294Y|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000424061.2_Missense_Mutation_p.S294Y	p.S294Y	NM_001122848.2	NP_001116320.1	WXS	Illumina GAIIx	Phase_I	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		9	1624	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		294					A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	c.881C>A	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521722	0.64747	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	3.95	3.05	0.35203	.	0.000000	0.85682	D	0.000000	D	0.94351	0.8184	H	0.99884	4.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94881	0.8039	10	0.87932	D	0	.	11.8977	0.52665	0.0863:0.0:0.9137:0.0	.	294	P48065	S6A12_HUMAN	Y	294	ENSP00000352702:S294Y;ENSP00000380464:S294Y;ENSP00000388184:S294Y;ENSP00000399136:S294Y;ENSP00000444268:S294Y	ENSP00000352702:S294Y	S	-	2	0	SLC6A12	177396	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	7.535000	0.82014	0.866000	0.35629	0.561000	0.74099	TCC		0.587	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		5	116	1	0	1.024e-07	1	1.09445e-07	5	116					T	307135	G	T	307135	3	4	37	1	0	0	0	0	1	0	0	0	14690	1174	41	2	995	2	SLC6A12	12	307135	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08		307135	133544760	216	3580										
RAD52	5893	broad.mit.edu	37	chr12	1036411	1036411	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	actaacaccataaccaacatCttcatgatatgaaccatcct	2	13	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:1036411C>T	ENST00000358495.3	-	6	505	c.367G>A	c.(367-369)Gat>Aat	p.D123N	RAD52_ENST00000539046.1_Missense_Mutation_p.D46N|RAD52_ENST00000545564.1_Missense_Mutation_p.D123N|RAD52_ENST00000536177.1_Missense_Mutation_p.D123N|RAD52_ENST00000430095.2_Missense_Mutation_p.D123N	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	123					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)			TAACCAACATCTTCATGATAT	0.537								Homologous recombination																														ENST00000358495.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(367-369)Gat>Aat	Homologous recombination	RAD52 homolog (S. cerevisiae)							168	169	169					12																	1036411		2203	4300	6503	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1036411C>T		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.367G>A	12.37:g.1036411C>T	ENSP00000351284:p.Asp123Asn		Somatic				RAD52_ENST00000539046.1_Missense_Mutation_p.D46N|RAD52_ENST00000536177.1_Missense_Mutation_p.D123N|RAD52_ENST00000545564.1_Missense_Mutation_p.D123N|RAD52_ENST00000430095.2_Missense_Mutation_p.D123N	p.D123N	NM_134424.2	NP_602296.2	WXS	Illumina GAIIx	Phase_I	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		6	505	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		123					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	c.367G>A	CCDS8507.2	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639235	0.67244	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046;ENST00000536177;ENST00000545564;ENST00000542785	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	4.66	4.66	0.58398	.	0.044535	0.85682	D	0.000000	T	0.61110	0.2321	M	0.86268	2.805	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.995	D;D;D	0.87578	0.998;0.975;0.993	T	0.67440	-0.5670	10	0.62326	D	0.03	-19.2054	17.6879	0.88261	0.0:1.0:0.0:0.0	.	123;123;123	F5GX32;Q9Y5T7;P43351	.;.;RAD52_HUMAN	N	123;123;46;123;123;123	ENSP00000351284:D123N;ENSP00000387901:D123N;ENSP00000445245:D46N;ENSP00000440486:D123N;ENSP00000440268:D123N;ENSP00000441073:D123N	ENSP00000351284:D123N	D	-	1	0	RAD52	906672	1.000000	0.71417	0.986000	0.45419	0.077000	0.17291	7.015000	0.76387	2.590000	0.87494	0.561000	0.74099	GAT		0.537	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		15	238	0	0	0	1	0	15	238					T	1036411	C	T	1036411	3	4	37	1	0	0	0	0	1	0	0	0	13006	913	32	3	917	3	RAD52	12	1036411	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	729276	1036411	132815484	217	3581										
VWF	7450	broad.mit.edu	37	chr12	6153567	6153567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttcagcccgcaggttgtcagCgggacacaccagcttgacca	11	14	2	1	rs146892641		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:6153567C>T	ENST00000261405.5	-	18	2586	c.2332G>A	c.(2332-2334)Gct>Act	p.A778T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	778	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)			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)	AGGTTGTCAGCGGGACACACC	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		22003	0		0	False		,,,				2504	0					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.(2332-2334)Gct>Act		von Willebrand factor	Antihemophilic Factor(DB00025)	C	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	84	70	75		2332	3.3	1	12	dbSNP_134	75	0,8600		0,0,4300	no	missense	VWF	NM_000552.3	58	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	778/2814	6153567	3,13003	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.chr12:6153567C>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.2332G>A	12.37:g.6153567C>T	ENSP00000261405:p.Ala778Thr		Somatic					p.A778T	NM_000552.3	NP_000543.2	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			18	2586	-			778			Amino-terminal.|TIL 3.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.2332G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234295	0.58886	6.81E-4	0.0	ENSG00000110799	ENST00000261405	T	0.80033	-1.33	4.19	3.27	0.37495	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (1);	0.450854	0.16405	N	0.215846	T	0.78748	0.4332	L	0.54323	1.7	0.80722	D	1	P	0.48407	0.91	P	0.45428	0.48	T	0.76621	-0.2892	10	0.40728	T	0.16	.	12.8803	0.58014	0.0:0.835:0.1649:0.0	.	778	P04275	VWF_HUMAN	T	778	ENSP00000261405:A778T	ENSP00000261405:A778T	A	-	1	0	VWF	6023828	0.411000	0.25384	0.986000	0.45419	0.774000	0.43823	0.876000	0.28092	0.949000	0.37715	0.563000	0.77884	GCT		0.562	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		16	30	0	0	0	1	0	16	30					T	6153567	C	T	6153567	3	4	37	1	0	0	0	0	1	0	0	0	17261	768	27	1	6249	1	VWF	12	6153567	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	5117156	6153567	127698328	218	3582										
SPSB2	84727	broad.mit.edu	37	chr12	6981730	6981730	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tggtcagtctgcagcggggcGagggccgtggccacgcccac	17	14	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:6981730G>T	ENST00000524270.1	-	2	522	c.336C>A	c.(334-336)ctC>ctA	p.L112L	SPSB2_ENST00000519357.1_Silent_p.L112L|RPL13P5_ENST00000412023.1_RNA|LRRC23_ENST00000433346.1_5'Flank|SPSB2_ENST00000523102.1_Silent_p.L112L	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	112	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GCAGCGGGGCGAGGGCCGTGG	0.687											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000519357.1																			0				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(334-336)ctC>ctA		splA/ryanodine receptor domain and SOCS box containing 2							28	31	30					12																	6981730		2201	4297	6498	SO:0001819	synonymous_variant	84727				intracellular signal transduction	cytoplasm	protein binding	g.chr12:6981730G>T	AF403027	CCDS8567.1	12p13.31	2008-02-05				ENSG00000111671			29522	protein-coding gene	gene with protein product		611658				8723724, 12076535	Standard	NM_001146316		Approved	GRCC9, SSB-2	uc001qrl.3	Q99619		ENST00000524270.1:c.336C>A	12.37:g.6981730G>T			Somatic	OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	SPSB2_ENST00000523102.1_Silent_p.L112L|SPSB2_ENST00000524270.1_Silent_p.L112L	p.L112L			WXS	Illumina GAIIx	Phase_I	Q99619	SPSB2_HUMAN			2	522	-			112			B30.2/SPRY.		B7Z4W1|D3DUT0	Silent	SNP	ENST00000524270.1	37	c.336C>A	CCDS8567.1																																																																																				0.687	SPSB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375721.1	NM_032641		9	82	1	0	5.4927e-09	1	5.9436e-09	9	82					T	6981730	G	T	6981730	2	4	37	1	0	0	0	0	0	0	0	1	15128	1045	37	2		2	SPSB2	12	6981730	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	828163	6981730	126870165	219	3583										
FAM90A1	55138	broad.mit.edu	37	chr12	8375292	8375292	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctaagacggagcccctgtcaGacatttcggtagctgagcga	12	11	1	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:8375292G>C	ENST00000538603.1	-	7	1079	c.521C>G	c.(520-522)tCt>tGt	p.S174C	FAM90A1_ENST00000307435.6_Missense_Mutation_p.S174C	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	174							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GCCCCTGTCAGACATTTCGGT	0.572																																						ENST00000538603.1																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(520-522)tCt>tGt		family with sequence similarity 90, member A1							33	47	42					12																	8375292		2069	3941	6010	SO:0001583	missense	55138						nucleic acid binding|zinc ion binding	g.chr12:8375292G>C	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.521C>G	12.37:g.8375292G>C	ENSP00000445418:p.Ser174Cys		Somatic				FAM90A1_ENST00000307435.6_Missense_Mutation_p.S174C	p.S174C	NM_018088.3	NP_060558.3	WXS	Illumina GAIIx	Phase_I	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	7	1079	-			174					D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	c.521C>G	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	8.509	0.866076	0.17250	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.15372	2.43;2.43	0.444	0.444	0.16592	.	.	.	.	.	T	0.19967	0.0480	N	0.19112	0.55	0.09310	N	1	D	0.67145	0.996	P	0.61592	0.891	T	0.15292	-1.0442	8	0.72032	D	0.01	4.0796	.	.	.	.	174	Q86YD7	F90A1_HUMAN	C	174	ENSP00000307798:S174C;ENSP00000445418:S174C	ENSP00000307798:S174C	S	-	2	0	FAM90A1	8266559	0.004000	0.15560	0.005000	0.12908	0.021000	0.10359	0.315000	0.19451	0.466000	0.27193	0.205000	0.17691	TCT		0.572	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		5	95	0	0	0	1	0	5	95					C	8375292	G	C	8375292	3	2	37	1	0	0	0	0	1	0	0	0	5658	942	33	2	877	2	FAM90A1	12	8375292	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	1393562	8375292	125476603	220	3584										
SLCO1C1	53919	broad.mit.edu	37	chr12	20905332	20905332	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tttaaagaaaaattatgtttCaaaacacagaagttttataa	4	3	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:20905332C>G	ENST00000266509.2	+	15	2377	c.2009C>G	c.(2008-2010)tCa>tGa	p.S670*	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.F704L|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.F704L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.F586L|SLCO1C1_ENST00000540354.1_Nonsense_Mutation_p.S621*	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	670					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	AATTATGTTTCAAAACACAGA	0.343																																						ENST00000266509.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(2008-2010)tCa>tGa		solute carrier organic anion transporter family, member 1C1							55	56	56					12																	20905332		2203	4300	6503	SO:0001587	stop_gained	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20905332C>G	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.2009C>G	12.37:g.20905332C>G	ENSP00000266509:p.Ser670*		Somatic				SLCO1C1_ENST00000381552.1_Missense_Mutation_p.F704L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.F586L|SLCO1C1_ENST00000540354.1_Nonsense_Mutation_p.S621*|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.F704L	p.S670*	NM_017435.4	NP_059131.1	WXS	Illumina GAIIx	Phase_I	Q9NYB5	SO1C1_HUMAN			15	2377	+	Esophageal squamous(101;0.149)		670					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Nonsense_Mutation	SNP	ENST00000266509.2	37	c.2009C>G	CCDS8683.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.621168|6.621168	0.97714|0.97714	.|.	.|.	ENSG00000139155|ENSG00000139155	ENST00000545604;ENST00000381552;ENST00000545102|ENST00000540354;ENST00000266509	T;T;T|.	0.38560|.	1.13;1.13;1.17|.	5.37|5.37	0.904|0.904	0.19302|0.19302	.|.	5.771150|.	0.00166|.	N|.	0.000000|.	T|.	0.23133|.	0.0559|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|.	0.24764|.	-1.0151|.	9|.	0.41790|0.25751	T|T	0.15|0.34	.|.	4.6858|4.6858	0.12757|0.12757	0.2061:0.5594:0.0:0.2345|0.2061:0.5594:0.0:0.2345	.|.	586;704|.	F5GZD6;Q5JPA4|.	.;.|.	L|X	704;704;586|621;670	ENSP00000444149:F704L;ENSP00000370964:F704L;ENSP00000444527:F586L|.	ENSP00000370964:F704L|ENSP00000266509:S670X	F|S	+|+	3|2	2|0	SLCO1C1|SLCO1C1	20796599|20796599	0.326000|0.326000	0.24669|0.24669	0.063000|0.063000	0.19743|0.19743	0.695000|0.695000	0.40330|0.40330	0.455000|0.455000	0.21843|0.21843	0.295000|0.295000	0.22570|0.22570	0.655000|0.655000	0.94253|0.94253	TTC|TCA		0.343	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		4	36	0	0	0	1	0	4	36					G	20905332	C	G	20905332	4	3	37	1	0	0	0	0	0	1	0	0	14740	838	29	2	2166	2	SLCO1C1	12	20905332	Nonsense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	12530040	20905332	112946563	221	3585										
C12orf11	55726	broad.mit.edu	37	chr12	27066540	27066540	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ccatcagacattccaagactCtttgatgtttctctgagttg	7	10	3	4			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:27066540C>T	ENST00000261191.7	-	14	2191	c.1655G>A	c.(1654-1656)aGa>aAa	p.R552K	ASUN_ENST00000539625.1_Missense_Mutation_p.R451K	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	552					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)											TTCCAAGACTCTTTGATGTTT	0.433																																						ENST00000261191.7																			0											c.(1654-1656)aGa>aAa		asunder spermatogenesis regulator							315	308	310					12																	27066540		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27066540C>T	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.1655G>A	12.37:g.27066540C>T	ENSP00000261191:p.Arg552Lys		Somatic				ASUN_ENST00000539625.1_Missense_Mutation_p.R451K	p.R552K	NM_018164.2	NP_060634.2	WXS	Illumina GAIIx	Phase_I	Q9NVM9	M89BB_HUMAN			14	2191	-			552					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.1655G>A	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907643	0.33721	.	.	ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745;ENST00000261190	T;T;T	0.42131	0.98;0.98;0.98	4.92	4.92	0.64577	.	0.055575	0.64402	D	0.000001	T	0.34774	0.0909	L	0.39633	1.23	0.58432	D	0.999993	B;B	0.17465	0.022;0.01	B;B	0.16289	0.015;0.015	T	0.11792	-1.0573	10	0.13853	T	0.58	-22.5936	17.187	0.86869	0.0:1.0:0.0:0.0	.	552;451	Q9NVM9;B4DNK1	M89BB_HUMAN;.	K	199;552;451;139;49	ENSP00000445645:R199K;ENSP00000261191:R552K;ENSP00000443724:R451K	ENSP00000261190:R49K	R	-	2	0	C12orf11	26957807	0.999000	0.42202	0.938000	0.37757	0.750000	0.42670	3.738000	0.55067	2.636000	0.89361	0.591000	0.81541	AGA		0.433	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		18	251	0	0	0	1	0	18	251					T	27066540	C	T	27066540	3	4	37	1	0	0	0	0	1	0	0	0	1677	913	32	3	481	3	C12orf11	12	27066540	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	6161208	27066540	106785355	222	3586										
HDAC7	51564	broad.mit.edu	37	chr12	48189070	48189070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gcaggggctctgagcgagtcCggctcagtggccagtggagg	19	10	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:48189070C>T	ENST00000427332.2	-	11	1220	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q	HDAC7_ENST00000354334.3_Missense_Mutation_p.R357Q|HDAC7_ENST00000080059.7_Missense_Mutation_p.R394Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R411Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R377Q			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	355	Transcription repression 2. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TGAGCGAGTCCGGCTCAGTGG	0.677																																						ENST00000080059.7																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1180-1182)cGg>cAg		histone deacetylase 7							23	28	27					12																	48189070		2197	4295	6492	SO:0001583	missense	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48189070C>T	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"histone deacetylase 7A"	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1064G>A	12.37:g.48189070C>T	ENSP00000404394:p.Arg355Gln		Somatic				HDAC7_ENST00000427332.2_Missense_Mutation_p.R355Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R411Q|HDAC7_ENST00000354334.3_Missense_Mutation_p.R357Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R377Q	p.R394Q	NM_015401.3	NP_056216.2	WXS	Illumina GAIIx	Phase_I	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	11	1180	-			355			Transcription repression 2 (By similarity).		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37	c.1181G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.315789	0.95655	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.72725	-0.17;-0.68;-0.17;-0.24;-0.14	4.37	4.37	0.52481	.	0.063541	0.64402	D	0.000011	D	0.82416	0.5032	M	0.69358	2.11	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.84790	0.0778	10	0.87932	D	0	.	16.0096	0.80391	0.0:1.0:0.0:0.0	.	394;377;357	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	Q	394;357;377;411;355	ENSP00000080059:R394Q;ENSP00000351326:R357Q;ENSP00000448532:R377Q;ENSP00000369984:R411Q;ENSP00000404394:R355Q	ENSP00000080059:R394Q	R	-	2	0	HDAC7	46475337	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.234000	0.78134	2.418000	0.82041	0.561000	0.74099	CGG		0.677	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			20	41	0	0	0	1	0	20	41					T	48189070	C	T	48189070	3	4	37	1	0	0	0	0	1	0	0	0	7021	652	23	1	1858	1	HDAC7	12	48189070	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	21122530	48189070	85662825	223	3587										
H1FNT	341567	broad.mit.edu	37	chr12	48723537	48723537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cagccgcgccccggagctccCggaggcgccgccagcccctt	13	21	0	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:48723537C>T	ENST00000335017.1	+	1	775	c.463C>T	c.(463-465)Cgg>Tgg	p.R155W		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	155	Arg-rich.				chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CCGGAGCTCCCGGAGGCGCCG	0.711																																						ENST00000335017.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						c.(463-465)Cgg>Tgg		H1 histone family, member N, testis-specific							7	9	8					12																	48723537		2110	4129	6239	SO:0001583	missense	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723537C>T	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"Histones / Replication-independent"	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.463C>T	12.37:g.48723537C>T	ENSP00000334805:p.Arg155Trp		Somatic					p.R155W	NM_181788.1	NP_861453.1	WXS	Illumina GAIIx	Phase_I	Q75WM6	H1FNT_HUMAN			1	775	+			155			Arg-rich.		Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	c.463C>T	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903431	0.92035	.	.	ENSG00000187166	ENST00000335017	T	0.21734	1.99	4.83	3.88	0.44766	.	0.322536	0.17293	N	0.179566	T	0.38188	0.1031	L	0.46157	1.445	0.31316	N	0.686601	D	0.89917	1.0	D	0.87578	0.998	T	0.27905	-1.0060	10	0.59425	D	0.04	-6.4307	12.7856	0.57502	0.1637:0.8363:0.0:0.0	.	155	Q75WM6	H1FNT_HUMAN	W	155	ENSP00000334805:R155W	ENSP00000334805:R155W	R	+	1	2	H1FNT	47009804	0.004000	0.15560	0.902000	0.35471	0.078000	0.17371	1.198000	0.32223	2.391000	0.81399	0.650000	0.86243	CGG		0.711	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788		6	11	0	0	0	1	0	6	11					T	48723537	C	T	48723537	3	4	37	1	0	0	0	0	1	0	0	0	6930	643	23	1	465	1	H1FNT	12	48723537	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	534467	48723537	85128358	224	3588										
FAM186B	84070	broad.mit.edu	37	chr12	49994908	49994908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gccagccctgccagaaggtgCgtttggacactgggacaggt	15	11	0	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:49994908C>T	ENST00000257894.2	-	4	676	c.515G>A	c.(514-516)cGc>cAc	p.R172H	PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000544141.1_Missense_Mutation_p.R82H|FAM186B_ENST00000551047.1_Missense_Mutation_p.R172H	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	172						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						CCAGAAGGTGCGTTTGGACAC	0.527																																						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.(244-246)cGc>cAc		family with sequence similarity 186, member B							72	55	61					12																	49994908		2203	4300	6503	SO:0001583	missense	84070					protein complex		g.chr12:49994908C>T	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 25"	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.515G>A	12.37:g.49994908C>T	ENSP00000257894:p.Arg172His		Somatic				FAM186B_ENST00000551047.1_Missense_Mutation_p.R172H|FAM186B_ENST00000257894.2_Missense_Mutation_p.R172H|PRPF40B_ENST00000508736.1_3'UTR	p.R82H			WXS	Illumina GAIIx	Phase_I	Q8IYM0	F186B_HUMAN			4	844	-			172					B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	c.245G>A	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	C	9.272	1.045825	0.19748	.	.	ENSG00000135436	ENST00000544141;ENST00000551047;ENST00000257894	T;T;T	0.44083	2.78;0.93;2.98	5.11	-5.52	0.02560	.	2.363610	0.01699	N	0.027115	T	0.16128	0.0388	N	0.02011	-0.69	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.06405	0.0;0.002	T	0.18366	-1.0339	9	.	.	.	1.2313	8.1565	0.31171	0.1396:0.5772:0.0:0.2832	.	82;172	B4DZ15;Q8IYM0	.;F186B_HUMAN	H	82;172;172	ENSP00000438569:R82H;ENSP00000448656:R172H;ENSP00000257894:R172H	.	R	-	2	0	FAM186B	48281175	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-0.842000	0.04354	-0.851000	0.04147	-0.907000	0.02831	CGC		0.527	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		4	70	0	0	0	1	0	4	70					T	49994908	C	T	49994908	3	4	37	1	0	0	0	0	1	0	0	0	5517	768	27	1	2182	1	FAM186B	12	49994908	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	1271371	49994908	83856987	225	3589										
KRT6B	3854	broad.mit.edu	37	chr12	52845724	52845724	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tcctccacatgcgccacccaGgccaccactgcccctggagc	8	21	0	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:52845724G>C	ENST00000252252.3	-	1	186	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	47	Head.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GCGCCACCCAGGCCACCACTG	0.667																																						ENST00000252252.3																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(139-141)Ctg>Gtg		keratin 6B							61	65	63					12																	52845724		2203	4299	6502	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52845724G>C	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.139C>G	12.37:g.52845724G>C	ENSP00000252252:p.Leu47Val		Somatic					p.L47V	NM_005555.3	NP_005546.2	WXS	Illumina GAIIx	Phase_I	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	1	186	-			47			Head.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.139C>G	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	G	1.621	-0.521450	0.04171	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.87412	-2.25	3.07	-1.46	0.08800	.	1.350910	0.05011	N	0.470981	T	0.78246	0.4253	L	0.47716	1.5	0.09310	N	1	B	0.22003	0.063	B	0.11329	0.006	T	0.55366	-0.8152	10	0.17369	T	0.5	.	0.9802	0.01434	0.2047:0.1352:0.3553:0.3048	.	47	P04259	K2C6B_HUMAN	V	47	ENSP00000252252:L47V	ENSP00000252252:L47V	L	-	1	2	KRT6B	51131991	0.000000	0.05858	0.000000	0.03702	0.731000	0.41821	-0.408000	0.07169	-0.295000	0.08960	0.298000	0.19748	CTG		0.667	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		5	242	0	0	0	1	0	5	242					C	52845724	G	C	52845724	3	2	37	1	0	0	0	0	1	0	0	0	8490	991	35	5	1591	5	KRT6B	12	52845724	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	2850816	52845724	81006171	226	3590										
OR6C6	283365	broad.mit.edu	37	chr12	55688184	55688184	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gatttagtaaaggggcaattGaggtatagagcaaagctaca	12	4	0	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:55688184G>T	ENST00000358433.2	-	1	832	c.833C>A	c.(832-834)tCa>tAa	p.S278*		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	278						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(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGGGGCAATTGAGGTATAGAG	0.363																																						ENST00000358433.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(832-834)tCa>tAa		olfactory receptor, family 6, subfamily C, member 6							88	95	93					12																	55688184		2203	4300	6503	SO:0001587	stop_gained	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688184G>T		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"GPCR / Class A : Olfactory receptors"	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.833C>A	12.37:g.55688184G>T	ENSP00000351211:p.Ser278*		Somatic					p.S278*	NM_001005493.1	NP_001005493.1	WXS	Illumina GAIIx	Phase_I	A6NF89	OR6C6_HUMAN			1	832	-			278						Nonsense_Mutation	SNP	ENST00000358433.2	37	c.833C>A	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	9.442	1.088358	0.20390	.	.	ENSG00000188324	ENST00000358433	.	.	.	4.33	4.33	0.51752	.	0.000000	0.42053	D	0.000776	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.8554	0.18716	0.2445:0.0:0.7554:0.0	.	.	.	.	X	278	.	ENSP00000351211:S278X	S	-	2	0	OR6C6	53974451	0.024000	0.19004	0.275000	0.24674	0.079000	0.17450	2.595000	0.46197	2.407000	0.81776	0.644000	0.83932	TCA		0.363	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			11	63	1	0	0.000978159	1	0.00101069	11	63					T	55688184	G	T	55688184	4	4	37	1	0	0	0	0	0	1	0	0	11203	1294	45	2	113	2	OR6C6	12	55688184	Nonsense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	2842460	55688184	78163711	227	3591										
DGKA	1606	broad.mit.edu	37	chr12	56347166	56347166	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ccttcccatgcaaattgacgGagaaccctggatgcagacgc	10	13	0	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:56347166G>T	ENST00000331886.5	+	23	2550	c.2096G>T	c.(2095-2097)gGa>gTa	p.G699V	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.G699V|DGKA_ENST00000394147.1_Missense_Mutation_p.G699V	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	699				G -> V (in Ref. 1; CAA44396). {ECO:0000305}.	blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)	p.G699V(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CAAATTGACGGAGAACCCTGG	0.468																																						ENST00000331886.5																			1	Substitution - Missense(1)	p.G699V(1)	lung(1)	breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(2095-2097)gGa>gTa		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						253	248	250					12																	56347166		2203	4300	6503	SO:0001583	missense	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347166G>T	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2096G>T	12.37:g.56347166G>T	ENSP00000328405:p.Gly699Val		Somatic				DGKA_ENST00000551156.1_Missense_Mutation_p.G699V|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.G699V	p.G699V	NM_001345.4	NP_001336.2	WXS	Illumina GAIIx	Phase_I	P23743	DGKA_HUMAN			23	2550	+			699	G -> V (in Ref. 1; CAA44396).				O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	c.2096G>T	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599485	0.87055	.	.	ENSG00000065357	ENST00000331886;ENST00000394147;ENST00000551156	D;D;D	0.91124	-2.79;-2.79;-2.79	4.71	4.71	0.59529	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	D	0.97133	0.9063	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98753	1.0721	10	0.87932	D	0	.	16.8197	0.85742	0.0:0.0:1.0:0.0	.	699	P23743	DGKA_HUMAN	V	699	ENSP00000328405:G699V;ENSP00000377703:G699V;ENSP00000450359:G699V	ENSP00000328405:G699V	G	+	2	0	DGKA	54633433	1.000000	0.71417	0.982000	0.44146	0.895000	0.52256	9.290000	0.96065	2.312000	0.78011	0.561000	0.74099	GGA		0.468	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			25	372	1	0	5.61819e-17	1	6.18712e-17	25	372					T	56347166	G	T	56347166	3	4	37	1	0	0	0	0	1	0	0	0	4467	1174	41	2	2182	2	DGKA	12	56347166	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	658982	56347166	77504729	228	3592										
SMARCC2	6601	broad.mit.edu	37	chr12	56566438	56566438	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttttgcatgtctgttggtttCtctttgcctttgtcaggaaa	9	7	3	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:56566438C>T	ENST00000267064.4	-	18	1787	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E	SMARCC2_ENST00000394023.3_Silent_p.E598E|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Silent_p.E598E|SMARCC2_ENST00000550164.1_Silent_p.E598E	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	567					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)			CTGTTGGTTTCTCTTTGCCTT	0.498																																						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.(1792-1794)gaG>gaA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							216	193	201					12																	56566438		2203	4300	6503	SO:0001819	synonymous_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56566438C>T	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.1701G>A	12.37:g.56566438C>T			Somatic				SMARCC2_ENST00000347471.4_Silent_p.E598E|SMARCC2_ENST00000267064.4_Silent_p.E567E|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Silent_p.E598E	p.E598E	NM_001130420.1	NP_001123892.1	WXS	Illumina GAIIx	Phase_I	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		19	1899	-			567			SANT.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	ENST00000267064.4	37	c.1794G>A	CCDS8907.1																																																																																				0.498	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			13	131	0	0	0	1	0	13	131					T	56566438	C	T	56566438	2	4	37	1	0	0	0	0	0	0	0	1	14791	912	32	3		3	SMARCC2	12	56566438	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	219272	56566438	77285457	229	3593										
TIMELESS	8914	broad.mit.edu	37	chr12	56815774	56815774	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aggaacagtattcaggtgggCcaagatggcttccaccacat	11	10	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:56815774C>G	ENST00000553532.1	-	21	2701	c.2551G>C	c.(2551-2553)Gcc>Ccc	p.A851P	TIMELESS_ENST00000229201.4_Missense_Mutation_p.A850P|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TTCAGGTGGGCCAAGATGGCT	0.537																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(2548-2550)Gcc>Ccc		timeless circadian clock							127	113	118					12																	56815774		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.chr12:56815774C>G	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.2551G>C	12.37:g.56815774C>G	ENSP00000450607:p.Ala851Pro		Somatic				TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.A851P	p.A850P	NM_003920.3	NP_003911.2	WXS	Illumina GAIIx	Phase_I	Q9UNS1	TIM_HUMAN			21	2702	-			851						Missense_Mutation	SNP	ENST00000553532.1	37	c.2548G>C	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657491	0.47467	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.12879	2.64;2.64	5.19	5.19	0.71726	Timeless C-terminal (1);	0.172886	0.50627	D	0.000105	T	0.15219	0.0367	L	0.42245	1.32	0.80722	D	1	B	0.10296	0.003	B	0.16289	0.015	T	0.03413	-1.1039	10	0.33141	T	0.24	-0.1017	17.8454	0.88729	0.0:1.0:0.0:0.0	.	851	Q9UNS1	TIM_HUMAN	P	850;851	ENSP00000229201:A850P;ENSP00000450607:A851P	ENSP00000229201:A851P	A	-	1	0	TIMELESS	55102041	0.996000	0.38824	0.965000	0.40720	0.752000	0.42762	1.033000	0.30191	2.595000	0.87683	0.555000	0.69702	GCC		0.537	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		5	130	0	0	0	1	0	5	130					G	56815774	C	G	56815774	3	3	37	1	0	0	0	0	1	0	0	0	15919	739	26	5	1111	5	TIMELESS	12	56815774	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	249336	56815774	77036121	230	3594										
TIMELESS	8914	broad.mit.edu	37	chr12	56825346	56825346	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aaaatctgcactccgctcctGagctaagcgtccctgcccta	7	16	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:56825346G>C	ENST00000553532.1	-	8	880	c.730C>G	c.(730-732)Cag>Gag	p.Q244E	TIMELESS_ENST00000229201.4_Missense_Mutation_p.Q243E|TIMELESS_ENST00000554616.1_Missense_Mutation_p.Q244E					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTCCGCTCCTGAGCTAAGCGT	0.552																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(727-729)Cag>Gag		timeless circadian clock							94	83	87					12																	56825346		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.chr12:56825346G>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.730C>G	12.37:g.56825346G>C	ENSP00000450607:p.Gln244Glu		Somatic				TIMELESS_ENST00000554616.1_Missense_Mutation_p.Q244E|TIMELESS_ENST00000553532.1_Missense_Mutation_p.Q244E	p.Q243E	NM_003920.3	NP_003911.2	WXS	Illumina GAIIx	Phase_I	Q9UNS1	TIM_HUMAN			8	881	-			244						Missense_Mutation	SNP	ENST00000553532.1	37	c.727C>G	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	8.181	0.793869	0.16327	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.40225	1.04;1.04;1.04	5.42	5.42	0.78866	Timeless protein (1);	0.186958	0.45606	D	0.000345	T	0.21103	0.0508	N	0.11560	0.145	0.37710	D	0.924543	B;B	0.14012	0.007;0.009	B;B	0.12156	0.004;0.007	T	0.19095	-1.0316	10	0.10377	T	0.69	-15.0418	9.7411	0.40418	0.0:0.1506:0.6937:0.1557	.	243;244	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	E	243;244;244	ENSP00000229201:Q243E;ENSP00000450607:Q244E;ENSP00000450848:Q244E	ENSP00000229201:Q244E	Q	-	1	0	TIMELESS	55111613	0.650000	0.27331	1.000000	0.80357	0.986000	0.74619	1.880000	0.39628	2.715000	0.92844	0.655000	0.94253	CAG		0.552	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		7	55	0	0	0	1	0	7	55					C	56825346	G	C	56825346	3	2	37	1	0	0	0	0	1	0	0	0	15919	1299	45	2	2984	2	TIMELESS	12	56825346	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	9572	56825346	77026549	231	3595										
TRHDE	29953	broad.mit.edu	37	chr12	72969145	72969145	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ggaactggagattattaattGatcaattaatccggaatcat	8	5	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:72969145G>C	ENST00000261180.4	+	11	2203	c.2107G>C	c.(2107-2109)Gat>Cat	p.D703H	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	703					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						ATTATTAATTGATCAATTAAT	0.343																																						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.(2107-2109)Gat>Cat		thyrotropin-releasing hormone degrading enzyme							98	97	97					12																	72969145		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72969145G>C	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.2107G>C	12.37:g.72969145G>C	ENSP00000261180:p.Asp703His		Somatic				TRHDE_ENST00000549138.1_3'UTR	p.D703H	NM_013381.2	NP_037513.1	WXS	Illumina GAIIx	Phase_I	Q9UKU6	TRHDE_HUMAN			11	2203	+			703					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2107G>C	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915490	0.52546	.	.	ENSG00000072657	ENST00000261180	T	0.29142	1.58	5.53	4.63	0.57726	.	0.414302	0.29900	N	0.010911	T	0.30479	0.0766	L	0.28504	0.86	0.41438	D	0.987906	P	0.49696	0.927	P	0.49597	0.616	T	0.02358	-1.1171	10	0.59425	D	0.04	.	11.4685	0.50254	0.1346:0.0:0.8654:0.0	.	703	Q9UKU6	TRHDE_HUMAN	H	703	ENSP00000261180:D703H	ENSP00000261180:D703H	D	+	1	0	TRHDE	71255412	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.237000	0.43061	2.763000	0.94921	0.563000	0.77884	GAT		0.343	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		10	46	0	0	0	1	0	10	46					C	72969145	G	C	72969145	3	2	37	1	0	0	0	0	1	0	0	0	16494	1290	45	2	2149	2	TRHDE	12	72969145	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	16143799	72969145	60882750	232	3596										
NAV3	89795	broad.mit.edu	37	chr12	78400500	78400500	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttcaagctagtcaatgcccgGactgctttacgccccccgca	8	16	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:78400500G>T	ENST00000397909.2	+	8	1355	c.1182G>T	c.(1180-1182)cgG>cgT	p.R394R	NAV3_ENST00000536525.2_Silent_p.R394R|NAV3_ENST00000228327.6_Silent_p.R394R|NAV3_ENST00000266692.7_Silent_p.R394R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	394						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						TCAATGCCCGGACTGCTTTAC	0.498										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.(1180-1182)cgG>cgT		neuron navigator 3							83	86	85					12																	78400500		1981	4151	6132	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400500G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1182G>T	12.37:g.78400500G>T		HNSCC(70;0.22)	Somatic				NAV3_ENST00000228327.6_Silent_p.R394R|NAV3_ENST00000266692.7_Silent_p.R394R|NAV3_ENST00000536525.2_Silent_p.R394R	p.R394R			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			8	1355	+			394					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.1182G>T		.	.	.	.	.	.	.	.	.	.	G	6.934	0.542076	0.13250	.	.	ENSG00000067798	ENST00000550503	.	.	.	5.74	3.9	0.45041	.	.	.	.	.	T	0.62208	0.2409	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60722	-0.7207	4	.	.	.	-13.8773	11.1388	0.48390	0.1994:0.0:0.8006:0.0	.	.	.	.	Y	218	.	.	D	+	1	0	NAV3	76924631	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	1.350000	0.34010	1.436000	0.47453	0.655000	0.94253	GAC		0.498	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		10	110	1	0	7.48243e-07	1	7.95808e-07	10	110					T	78400500	G	T	78400500	2	4	37	1	0	0	0	0	0	0	0	1	10194	1161	41	2		2	NAV3	12	78400500	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	5431355	78400500	55451395	233	3597										
C12orf26	84190	broad.mit.edu	37	chr12	82780731	82780731	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttgtagcccttcgaggaaatCaaaaccagagaattggtatg	10	7	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:82780731C>G	ENST00000248306.3	+	2	478	c.409C>G	c.(409-411)Caa>Gaa	p.Q137E	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	137							methyltransferase activity (GO:0008168)										TCGAGGAAATCAAAACCAGAG	0.368																																						ENST00000248306.3																			0											c.(409-411)Caa>Gaa		methyltransferase like 25							120	121	120					12																	82780731		2203	4300	6503	SO:0001583	missense	84190							g.chr12:82780731C>G	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.409C>G	12.37:g.82780731C>G	ENSP00000248306:p.Gln137Glu		Somatic				METTL25_ENST00000547357.1_3'UTR	p.Q137E	NM_032230.2	NP_115606.2	WXS	Illumina GAIIx	Phase_I					2	478	+								Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	c.409C>G	CCDS9024.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.846|3.846	-0.032810|-0.032810	0.07543|0.07543	.|.	.|.	ENSG00000127720|ENSG00000127720	ENST00000550058|ENST00000248306;ENST00000548200	.|T	.|0.29655	.|1.56	5.84|5.84	-1.25|-1.25	0.09405|0.09405	.|.	.|1.504390	.|0.03156	.|N	.|0.168543	T|T	0.29423|0.29423	0.0733|0.0733	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	.|B	.|0.18013	.|0.025	.|B	.|0.15870	.|0.014	T|T	0.42068|0.42068	-0.9473|-0.9473	5|10	.|0.02654	.|T	.|1	0.7368|0.7368	11.6924|11.6924	0.51523|0.51523	0.6268:0.2746:0.0986:0.0|0.6268:0.2746:0.0986:0.0	.|.	.|137	.|Q8N6Q8	.|CL026_HUMAN	M|E	95|137	.|ENSP00000248306:Q137E	.|ENSP00000248306:Q137E	I|Q	+|+	3|1	3|0	C12orf26|C12orf26	81304862|81304862	0.065000|0.065000	0.20965|0.20965	0.055000|0.055000	0.19348|0.19348	0.036000|0.036000	0.12997|0.12997	-0.039000|-0.039000	0.12124|0.12124	-0.425000|-0.425000	0.07371|0.07371	-0.182000|-0.182000	0.12963|0.12963	ATC|CAA		0.368	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		4	78	0	0	0	1	0	4	78					G	82780731	C	G	82780731	3	3	37	1	0	0	0	0	1	0	0	0	1681	827	29	2	415	2	C12orf26	12	82780731	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	4380231	82780731	51071164	234	3598										
LRRIQ1	84125	broad.mit.edu	37	chr12	85450933	85450933	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tggataaactggaaattcttCgatgtggcccttgggatact	11	7	1	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:85450933C>T	ENST00000393217.2	+	8	2423	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	788								p.R788*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGAAATTCTTCGATGTGGCCC	0.323																																						ENST00000393217.2																			2	Substitution - Nonsense(2)	p.R788*(2)	large_intestine(2)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(2362-2364)Cga>Tga		leucine-rich repeats and IQ motif containing 1							96	107	103					12																	85450933		2203	4300	6503	SO:0001587	stop_gained	84125							g.chr12:85450933C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2362C>T	12.37:g.85450933C>T	ENSP00000376910:p.Arg788*		Somatic					p.R788*	NM_001079910.1	NP_001073379.1	WXS	Illumina GAIIx	Phase_I	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	2423	+			788					Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	ENST00000393217.2	37	c.2362C>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	40	8.025996	0.98616	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	.	.	.	5.56	5.56	0.83823	.	0.541530	0.17226	N	0.182151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	17.713	0.88327	0.0:1.0:0.0:0.0	.	.	.	.	X	788;763;788	.	ENSP00000256007:R788X	R	+	1	2	LRRIQ1	83975064	0.829000	0.29322	0.826000	0.32828	0.814000	0.46013	2.885000	0.48570	2.613000	0.88420	0.591000	0.81541	CGA		0.323	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		11	149	0	0	0	1	0	11	149					T	85450933	C	T	85450933	4	4	37	1	0	0	0	0	0	1	0	0	9038	876	31	1	2388	1	LRRIQ1	12	85450933	Nonsense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	2670202	85450933	48400962	235	3599										
CRY1	1407	broad.mit.edu	37	chr12	107398927	107398927	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tgaaattcttacaatgacttCtactccagcttcagttgcca	5	11	3	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:107398927C>G	ENST00000008527.5	-	3	1234	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	123	Photolyase/cryptochrome alpha/beta.				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)			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						ACAATGACTTCTACTCCAGCT	0.348																																						ENST00000008527.5																			0				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.(367-369)Gaa>Caa		cryptochrome 1 (photolyase-like)							165	159	161					12																	107398927		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.chr12:107398927C>G	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.367G>C	12.37:g.107398927C>G	ENSP00000008527:p.Glu123Gln		Somatic					p.E123Q	NM_004075.3	NP_004066.1	WXS	Illumina GAIIx	Phase_I	Q16526	CRY1_HUMAN			3	1234	-			123			DNA photolyase.			Missense_Mutation	SNP	ENST00000008527.5	37	c.367G>C	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808496	0.70797	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.51	5.51	0.81932	Rossmann-like alpha/beta/alpha sandwich fold (1);DNA photolyase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.62258	0.2413	L	0.53249	1.67	0.80722	D	1	B	0.28026	0.198	B	0.31390	0.129	T	0.58423	-0.7639	9	0.34782	T	0.22	-21.2092	19.4207	0.94720	0.0:1.0:0.0:0.0	.	123	Q16526	CRY1_HUMAN	Q	123	.	ENSP00000008527:E123Q	E	-	1	0	CRY1	105923057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.601000	0.87937	0.585000	0.79938	GAA		0.348	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		8	61	0	0	0	1	0	8	61					G	107398927	C	G	107398927	3	3	37	1	0	0	0	0	1	0	0	0	3905	922	32	2	1433	2	CRY1	12	107398927	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	21947994	107398927	26452968	236	3600										
HVCN1	84329	broad.mit.edu	37	chr12	111099146	111099146	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tcctcttcattctcccatttCttgtagttgatgttccaggc	6	12	4	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:111099146C>G	ENST00000356742.5	-	3	882	c.129G>C	c.(127-129)aaG>aaC	p.K43N	HVCN1_ENST00000548312.1_Missense_Mutation_p.K43N|HVCN1_ENST00000439744.2_Missense_Mutation_p.K23N|HVCN1_ENST00000242607.8_Missense_Mutation_p.K43N			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	43					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						tctccCATTTCTTGTAGTTGA	0.597																																						ENST00000356742.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(127-129)aaG>aaC		hydrogen voltage-gated channel 1							70	66	68					12																	111099146		2203	4300	6503	SO:0001583	missense	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099146C>G	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"Voltage-gated ion channels / Hydrogen voltage-gated channel"	28240	protein-coding gene	gene with protein product	"voltage sensor domain-only protein"	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.129G>C	12.37:g.111099146C>G	ENSP00000349181:p.Lys43Asn		Somatic				HVCN1_ENST00000439744.2_Missense_Mutation_p.K23N|HVCN1_ENST00000548312.1_Missense_Mutation_p.K43N|HVCN1_ENST00000242607.8_Missense_Mutation_p.K43N	p.K43N			WXS	Illumina GAIIx	Phase_I	Q96D96	HVCN1_HUMAN			3	882	-			43					A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	c.129G>C	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.962380	0.74016	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744;ENST00000546713	T;T;T;T	0.52754	0.65;0.65;0.65;0.7	5.27	4.38	0.52667	.	0.331847	0.32244	N	0.006363	T	0.63534	0.2519	M	0.73962	2.25	0.36772	D	0.883886	D;P	0.69078	0.997;0.879	P;P	0.58520	0.84;0.494	T	0.74731	-0.3566	10	0.72032	D	0.01	-35.7562	14.0037	0.64449	0.0:0.9276:0.0:0.0724	.	43;43	Q96D96;Q96D96-3	HVCN1_HUMAN;.	N	43;43;43;23;43	ENSP00000449601:K43N;ENSP00000242607:K43N;ENSP00000349181:K43N;ENSP00000412052:K23N	ENSP00000242607:K43N	K	-	3	2	HVCN1	109583529	1.000000	0.71417	0.997000	0.53966	0.824000	0.46624	2.384000	0.44362	1.466000	0.48025	-0.389000	0.06534	AAG		0.597	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		7	65	0	0	0	1	0	7	65					G	111099146	C	G	111099146	3	3	37	1	0	0	0	0	1	0	0	0	7471	912	32	2	712	2	HVCN1	12	111099146	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	3700219	111099146	22752749	237	3601										
SH2B3	10019	broad.mit.edu	37	chr12	111886103	111886103	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gacaatcagtacacacctctCtgaccagtgaggaattccag	8	12	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:111886103C>A	ENST00000341259.2	+	8	2082	c.1725C>A	c.(1723-1725)ctC>ctA	p.L575L	SH2B3_ENST00000538307.1_Silent_p.L373L	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	575					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)	ACACACCTCTCTGACCAGTGA	0.532																																						ENST00000341259.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						c.(1723-1725)ctC>ctA		SH2B adaptor protein 3							69	82	78					12																	111886103		2203	4300	6503	SO:0001819	synonymous_variant	10019				blood coagulation	cytosol	signal transducer activity	g.chr12:111886103C>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.1725C>A	12.37:g.111886103C>A			Somatic				SH2B3_ENST00000538307.1_Silent_p.L373L	p.L575L	NM_005475.2	NP_005466.1	WXS	Illumina GAIIx	Phase_I	Q9UQQ2	SH2B3_HUMAN			8	2082	+			575					B9EGG5|O95184	Silent	SNP	ENST00000341259.2	37	c.1725C>A	CCDS9153.1																																																																																				0.532	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		4	30	1	0	0.150653	1	0.151001	4	30					A	111886103	C	A	111886103	2	1	37	1	0	0	0	0	0	0	0	1	14244	900	32	2		2	SH2B3	12	111886103	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	786957	111886103	21965792	238	3602										
ATXN2	6311	broad.mit.edu	37	chr12	111963105	111963105	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tcactttagcactgatagcaGagtcagtaaaagcatctgca	8	9	3	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:111963105G>C	ENST00000377617.3	-	6	1228	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	ATXN2_ENST00000550104.1_Missense_Mutation_p.S356C|ATXN2_ENST00000608853.1_Missense_Mutation_p.S196C|ATXN2_ENST00000389153.4_Missense_Mutation_p.S91C|ATXN2_ENST00000542287.2_Missense_Mutation_p.S91C|ATXN2_ENST00000535949.1_Missense_Mutation_p.S67C|ATXN2_ENST00000549455.1_5'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	356					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						ACTGATAGCAGAGTCAGTAAA	0.428																																						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.(1066-1068)tCt>tGt		ataxin 2							115	105	109					12																	111963105		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.chr12:111963105G>C	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.1067C>G	12.37:g.111963105G>C	ENSP00000366843:p.Ser356Cys		Somatic				ATXN2_ENST00000550104.1_Missense_Mutation_p.S356C|ATXN2_ENST00000542287.2_Missense_Mutation_p.S91C|ATXN2_ENST00000535949.1_Missense_Mutation_p.S67C|ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000389153.4_Missense_Mutation_p.S91C	p.S356C	NM_002973.3	NP_002964.3	WXS	Illumina GAIIx	Phase_I	Q99700	ATX2_HUMAN			6	1228	-			356					A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.1067C>G	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937152	0.73557	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000471866;ENST00000548492	T;T	0.69175	-0.33;-0.38	5.37	5.37	0.77165	.	0.241478	0.43260	D	0.000593	D	0.82296	0.5006	M	0.74881	2.28	0.52501	D	0.999955	D;D;D;D	0.89917	0.989;1.0;0.999;0.999	D;D;D;D	0.74348	0.934;0.983;0.969;0.947	D	0.83898	0.0288	10	0.87932	D	0	-13.7671	19.4597	0.94912	0.0:0.0:1.0:0.0	.	91;356;67;91	B3KT59;Q99700;Q24JQ7;F8VQP2	.;ATX2_HUMAN;.;.	C	91;356;356;91;67;32;99	ENSP00000366843:S356C;ENSP00000446576:S356C	ENSP00000366843:S356C	S	-	2	0	ATXN2	110447488	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.929000	0.70096	2.677000	0.91161	0.467000	0.42956	TCT		0.428	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		7	78	0	0	0	1	0	7	78					C	111963105	G	C	111963105	3	2	37	1	0	0	0	0	1	0	0	0	1211	942	33	2	2954	2	ATXN2	12	111963105	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	77002	111963105	21888790	239	3603										
MED13L	23389	broad.mit.edu	37	chr12	116413008	116413008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	catggccaagacgcccaagtCgcccgattacaactctccag	8	16	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:116413008C>T	ENST00000281928.3	-	25	5905	c.5699G>A	c.(5698-5700)cGa>cAa	p.R1900Q		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1900						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)		ACGCCCAAGTCGCCCGATTAC	0.438																																						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.(5698-5700)cGa>cAa		mediator complex subunit 13-like							71	69	70					12																	116413008		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116413008C>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.5699G>A	12.37:g.116413008C>T	ENSP00000281928:p.Arg1900Gln		Somatic					p.R1900Q	NM_015335.4	NP_056150.1	WXS	Illumina GAIIx	Phase_I	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	25	5905	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1900					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.5699G>A	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	36	5.880235	0.97062	.	.	ENSG00000123066	ENST00000281928	D	0.87966	-2.32	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.94755	0.8307	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94699	0.7881	10	0.87932	D	0	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	1900	Q71F56	MD13L_HUMAN	Q	1900	ENSP00000281928:R1900Q	ENSP00000281928:R1900Q	R	-	2	0	MED13L	114897391	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.438000	0.80431	2.894000	0.99253	0.591000	0.81541	CGA		0.438	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			5	78	0	0	0	1	0	5	78					T	116413008	C	T	116413008	3	4	37	1	0	0	0	0	1	0	0	0	9440	884	31	1	961	1	MED13L	12	116413008	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	4449903	116413008	17438887	240	3604										
MED13L	23389	broad.mit.edu	37	chr12	116460310	116460310	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	atgtgtatatgctcctcattGatcaaataaattggctggtg	9	6	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:116460310G>A	ENST00000281928.3	-	5	782	c.576C>T	c.(574-576)atC>atT	p.I192I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	192						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)		GCTCCTCATTGATCAAATAAA	0.463																																						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.(574-576)atC>atT		mediator complex subunit 13-like							120	100	107					12																	116460310		2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116460310G>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.576C>T	12.37:g.116460310G>A			Somatic					p.I192I	NM_015335.4	NP_056150.1	WXS	Illumina GAIIx	Phase_I	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	5	782	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		192					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.576C>T	CCDS9177.1																																																																																				0.463	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			4	24	0	0	0	1	0	4	24					A	116460310	G	A	116460310	2	1	37	1	0	0	0	0	0	0	0	1	9440	1280	45	3		3	MED13L	12	116460310	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	47302	116460310	17391585	241	3605										
P2RX7	5027	broad.mit.edu	37	chr12	121570869	121570869	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tatggcaccattaagtggttCttccacgtgatcatcttttc	7	10	3	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:121570869C>T	ENST00000546057.1	+	1	239	c.96C>T	c.(94-96)ttC>ttT	p.F32F	P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000377162.2_Silent_p.F32F|P2RX7_ENST00000535250.1_5'UTR|P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000443520.3_3'UTR	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	32					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTAAGTGGTTCTTCCACGTGA	0.527																																						ENST00000546057.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19						c.(94-96)ttC>ttT		purinergic receptor P2X, ligand-gated ion channel, 7							192	155	167					12																	121570869		2203	4300	6503	SO:0001819	synonymous_variant	5027					integral to membrane	ATP binding|ion channel activity|receptor activity	g.chr12:121570869C>T	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.96C>T	12.37:g.121570869C>T			Somatic				P2RX7_ENST00000377162.2_Silent_p.F32F|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_5'UTR|P2RX7_ENST00000541446.1_5'UTR	p.F32F	NM_002562.5	NP_002553.3	WXS	Illumina GAIIx	Phase_I	A8K2Z0	A8K2Z0_HUMAN			1	239	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		32					A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Silent	SNP	ENST00000546057.1	37	c.96C>T	CCDS9213.1																																																																																				0.527	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		10	139	0	0	0	1	0	10	139					T	121570869	C	T	121570869	2	4	37	1	0	0	0	0	0	0	0	1	11354	912	32	3		3	P2RX7	12	121570869	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	5110559	121570869	12281026	242	3606										
CCDC92	80212	broad.mit.edu	37	chr12	124422324	124422324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctctttcactttcagttgggCttccagctcttcacatcttt	5	13	6	0	rs200385849		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:124422324C>T	ENST00000238156.3	-	5	631	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	CCDC92_ENST00000545135.1_Missense_Mutation_p.A76T|DNAH10OS_ENST00000514254.2_5'Flank|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000545891.1_Missense_Mutation_p.A76T|CCDC92_ENST00000544798.1_Intron	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	93						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TTCAGTTGGGCTTCCAGCTCT	0.443													C|||	1	0.000199681	0	0	5008	,	,		21507	0		0.001	False		,,,				2504	0					ENST00000545135.1																			0				large_intestine(5)|lung(2)	7						c.(226-228)Gcc>Acc		coiled-coil domain containing 92							196	186	190					12																	124422324		2203	4300	6503	SO:0001583	missense	80212							g.chr12:124422324C>T	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"limkain beta 2"					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.277G>A	12.37:g.124422324C>T	ENSP00000238156:p.Ala93Thr		Somatic				CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.A76T|CCDC92_ENST00000238156.3_Missense_Mutation_p.A93T	p.A76T			WXS	Illumina GAIIx	Phase_I	Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	3	3522	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		93					B3KNQ0|Q9H697	Missense_Mutation	SNP	ENST00000238156.3	37	c.226G>A	CCDS9256.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.88	3.245783	0.59103	.	.	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891;ENST00000539761;ENST00000535556;ENST00000539551	T;T;T;T;T;T	0.48522	1.84;1.85;1.85;0.86;0.9;0.81	5.17	4.29	0.51040	.	0.060895	0.64402	D	0.000001	T	0.49558	0.1564	M	0.80028	2.48	0.50813	D	0.999895	B	0.27351	0.176	B	0.23419	0.046	T	0.49418	-0.8942	10	0.30078	T	0.28	-15.1805	13.9509	0.64116	0.0:0.9266:0.0:0.0734	.	93	Q53HC0	CCD92_HUMAN	T	93;76;76;93;76;93	ENSP00000238156:A93T;ENSP00000439526:A76T;ENSP00000440024:A76T;ENSP00000439441:A93T;ENSP00000438281:A76T;ENSP00000442369:A93T	ENSP00000238156:A93T	A	-	1	0	CCDC92	122988277	1.000000	0.71417	0.106000	0.21319	0.005000	0.04900	4.017000	0.57167	1.310000	0.45006	0.555000	0.69702	GCC		0.443	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		10	156	0	0	0	1	0	10	156					T	124422324	C	T	124422324	3	4	37	1	0	0	0	0	1	0	0	0	2873	797	28	3	722	3	CCDC92	12	124422324	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	2851455	124422324	9429571	243	3607										
ANKLE2	23141	broad.mit.edu	37	chr12	133331678	133331678	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tctaaggtcatctggattcaGaagtttcaatcgagccaaca	8	9	5	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:133331678G>C	ENST00000357997.5	-	2	312	c.223C>G	c.(223-225)Ctg>Gtg	p.L75V	ANKLE2_ENST00000337516.5_Missense_Mutation_p.L75V|ANKLE2_ENST00000539605.1_Missense_Mutation_p.L13V	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	75	LEM. {ECO:0000255|PROSITE- ProRule:PRU00313}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TCTGGATTCAGAAGTTTCAAT	0.403																																						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.(37-39)Ctg>Gtg		ankyrin repeat and LEM domain containing 2							85	80	82					12																	133331678		1871	4111	5982	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133331678G>C	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.223C>G	12.37:g.133331678G>C	ENSP00000350686:p.Leu75Val		Somatic				ANKLE2_ENST00000337516.5_Missense_Mutation_p.L75V|ANKLE2_ENST00000357997.5_Missense_Mutation_p.L75V	p.L13V			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)	1	6721	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	75					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.37C>G	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775027	0.49786	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.59364	0.6;0.52;0.27	5.4	2.09	0.27110	LEM-like domain (2);Lamino-associated polypeptide 2/emerin (1);	0.000000	0.85682	D	0.000000	T	0.69958	0.3169	M	0.68593	2.085	0.48040	D	0.999575	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69734	-0.5065	10	0.87932	D	0	-18.4548	9.392	0.38378	0.2682:0.0:0.7318:0.0	.	75;75	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	V	13;75;75	ENSP00000446268:L13V;ENSP00000350686:L75V;ENSP00000337651:L75V	ENSP00000337651:L75V	L	-	1	2	ANKLE2	131841751	1.000000	0.71417	0.993000	0.49108	0.372000	0.29890	3.161000	0.50747	0.460000	0.27045	0.644000	0.83932	CTG		0.403	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			10	97	0	0	0	1	0	10	97					C	133331678	G	C	133331678	3	2	37	1	0	0	0	0	1	0	0	0	633	933	33	2	2641	2	ANKLE2	12	133331678	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	8909354	133331678	520217	244	3608										
C1QTNF9	338872	broad.mit.edu	37	chr13	24895247	24895247	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ccatgggagagaagggcctcCgaggagagactgggcctcag	17	10	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr13:24895247C>T	ENST00000382071.2	+	4	428	c.343C>T	c.(343-345)Cga>Tga	p.R115*	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Nonsense_Mutation_p.R115*			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	115	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GAAGGGCCTCCGAGGAGAGAC	0.602																																						ENST00000382071.2																			0				endometrium(1)|kidney(2)|lung(6)	9						c.(343-345)Cga>Tga		C1q and tumor necrosis factor related protein 9							31	17	23					13																	24895247		1946	3132	5078	SO:0001587	stop_gained	338872					collagen	hormone activity	g.chr13:24895247C>T	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.343C>T	13.37:g.24895247C>T	ENSP00000371503:p.Arg115*		Somatic				C1QTNF9_ENST00000332018.4_Nonsense_Mutation_p.R115*|C1QTNF9-AS1_ENST00000449656.1_RNA	p.R115*			WXS	Illumina GAIIx	Phase_I	P0C862	C1T9A_HUMAN		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)	4	428	+		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	115			Collagen-like 2.		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Nonsense_Mutation	SNP	ENST00000382071.2	37	c.343C>T	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	N	8.671	0.902732	0.17760	.	.	ENSG00000240654	ENST00000382071;ENST00000332018	.	.	.	4.1	-1.29	0.09288	.	0.629833	0.16057	N	0.231668	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.073	0.64872	0.3998:0.6002:0.0:0.0	.	.	.	.	X	115	.	.	R	+	1	2	C1QTNF9	23793247	0.006000	0.16342	0.000000	0.03702	0.029000	0.11900	1.660000	0.37397	-0.286000	0.09076	0.536000	0.68110	CGA		0.602	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		17	50	0	0	0	1	0	17	50					T	24895247	C	T	24895247	4	4	37	1	0	0	0	0	0	1	0	0	1972	644	23	1	353	1	C1QTNF9	13	24895247	Nonsense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08		24895247	90274631	245	3609										
LECT1	11061	broad.mit.edu	37	chr13	53282685	53282685	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	acgcacatgataaggattatCaggattgaaggcttgtgagt	12	5	1	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr13:53282685C>T	ENST00000377962.3	-	6	853	c.775G>A	c.(775-777)Gat>Aat	p.D259N	LECT1_ENST00000448904.2_Missense_Mutation_p.D259N			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	259					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TAAGGATTATCAGGATTGAAG	0.483																																						ENST00000448904.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(775-777)Gat>Aat		leukocyte cell derived chemotaxin 1							188	159	169					13																	53282685		2203	4300	6503	SO:0001583	missense	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53282685C>T	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"BRICHOS domain containing"	17005	protein-coding gene	gene with protein product	"BRICHOS domain containing 3"	605147	"multiple myeloma tumor suppressor 1"	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.775G>A	13.37:g.53282685C>T	ENSP00000367198:p.Asp259Asn		Somatic				LECT1_ENST00000377962.3_Missense_Mutation_p.D259N	p.D259N	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	WXS	Illumina GAIIx	Phase_I	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	6	885	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	259					Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	37	c.775G>A	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112039	0.56398	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.32753	1.47;1.44	5.06	5.06	0.68205	.	0.094750	0.64402	D	0.000001	T	0.48150	0.1484	L	0.57536	1.79	0.49582	D	0.9998	D;D	0.56746	0.977;0.961	P;P	0.55923	0.787;0.617	T	0.49184	-0.8966	10	0.66056	D	0.02	.	18.7938	0.91985	0.0:1.0:0.0:0.0	.	259;259	O75829-2;O75829	.;LECT1_HUMAN	N	259	ENSP00000388576:D259N;ENSP00000367198:D259N	ENSP00000367198:D259N	D	-	1	0	LECT1	52180686	0.998000	0.40836	0.942000	0.38095	0.016000	0.09150	3.696000	0.54757	2.526000	0.85167	0.555000	0.69702	GAT		0.483	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			4	25	0	0	0	1	0	4	25					T	53282685	C	T	53282685	3	4	37	1	0	0	0	0	1	0	0	0	8721	826	29	3	237	3	LECT1	13	53282685	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	28387438	53282685	61887193	246	3610										
SLITRK5	26050	broad.mit.edu	37	chr13	88328522	88328522	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	agacttatttctgactacgaGatgaggccgcagacgccttt	10	10	1	5			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr13:88328522G>C	ENST00000325089.6	+	2	1098	c.879G>C	c.(877-879)gaG>gaC	p.E293D	SLITRK5_ENST00000400028.3_Missense_Mutation_p.E52D	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	293					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)					CTGACTACGAGATGAGGCCGC	0.537																																						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.(877-879)gaG>gaC		SLIT and NTRK-like family, member 5							70	74	73					13																	88328522		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328522G>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.879G>C	13.37:g.88328522G>C	ENSP00000366283:p.Glu293Asp		Somatic				SLITRK5_ENST00000400028.3_Missense_Mutation_p.E52D	p.E293D	NM_015567.1	NP_056382.1	WXS	Illumina GAIIx	Phase_I	O94991	SLIK5_HUMAN			2	1098	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		293					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.879G>C	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	5.654	0.305297	0.10678	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.47177	0.85;0.85	5.76	4.8	0.61643	.	0.324591	0.32328	N	0.006244	T	0.33789	0.0875	L	0.38692	1.165	0.38367	D	0.944774	B;B	0.25563	0.129;0.048	B;B	0.20184	0.028;0.028	T	0.18398	-1.0338	9	.	.	.	-19.7588	9.302	0.37851	0.1282:0.0:0.8718:0.0	.	52;293	B4DSH5;O94991	.;SLIK5_HUMAN	D	293;52	ENSP00000366283:E293D;ENSP00000442244:E52D	.	E	+	3	2	SLITRK5	87126523	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.866000	0.39489	2.724000	0.93272	0.491000	0.48974	GAG		0.537	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			15	95	0	0	0	1	0	15	95					C	88328522	G	C	88328522	3	2	37	1	0	0	0	0	1	0	0	0	14761	933	33	2	881	2	SLITRK5	13	88328522	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	35045837	88328522	26841356	247	3611										
OR4K5	79317	broad.mit.edu	37	chr14	20389101	20389101	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctttttactggaggggagatGgtgctacttgtttcgatggc	14	6	0	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:20389101G>T	ENST00000315915.4	+	1	361	c.336G>T	c.(334-336)atG>atT	p.M112I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	112						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)		GAGGGGAGATGGTGCTACTTG	0.428																																						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.(334-336)atG>atT		olfactory receptor, family 4, subfamily K, member 5							213	220	218					14																	20389101		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389101G>T	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.336G>T	14.37:g.20389101G>T	ENSP00000319511:p.Met112Ile		Somatic					p.M112I	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	361	+	all_cancers(95;0.00108)		112					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.336G>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	12.47	1.949128	0.34377	.	.	ENSG00000176281	ENST00000315915	T	0.00388	7.59	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.00210	0.0006	N	0.16166	0.38	0.28957	N	0.890073	B	0.27910	0.193	B	0.23574	0.047	T	0.51004	-0.8760	10	0.22706	T	0.39	.	14.5138	0.67807	0.0:0.0:1.0:0.0	.	112	Q8NGD3	OR4K5_HUMAN	I	112	ENSP00000319511:M112I	ENSP00000319511:M112I	M	+	3	0	OR4K5	19458941	0.000000	0.05858	0.983000	0.44433	0.931000	0.56810	0.085000	0.14912	2.269000	0.75478	0.655000	0.94253	ATG		0.428	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		11	252	1	0	7.03913e-09	1	7.57926e-09	11	252					T	20389101	G	T	20389101	3	4	37	1	0	0	0	0	1	0	0	0	11082	1348	47	5	338	5	OR4K5	14	20389101	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08		20389101	86960439	248	3612										
FAM179B	23116	broad.mit.edu	37	chr14	45432775	45432775	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ggtgctgggaaaatttaaccCtagttctactcctcattcta	7	10	3	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:45432775C>G	ENST00000361577.3	+	1	1365	c.1151C>G	c.(1150-1152)cCt>cGt	p.P384R	KLHL28_ENST00000553817.1_5'Flank|KLHL28_ENST00000355081.2_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.P384R|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.P384R	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	384										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AAATTTAACCCTAGTTCTACT	0.423																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(1150-1152)cCt>cGt		family with sequence similarity 179, member B							71	75	73					14																	45432775		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45432775C>G	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1151C>G	14.37:g.45432775C>G	ENSP00000355045:p.Pro384Arg		Somatic				FAM179B_ENST00000382233.2_Missense_Mutation_p.P384R|FAM179B_ENST00000361577.3_Missense_Mutation_p.P384R	p.P384R			WXS	Illumina GAIIx	Phase_I	Q9Y4F4	F179B_HUMAN			1	1334	+			384					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.1151C>G	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599474	0.46318	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.59772	0.24;0.24;0.24	4.58	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.188403	0.36628	N	0.002482	T	0.56761	0.2007	N	0.19112	0.55	0.35167	D	0.771197	P;D;D;P	0.76494	0.472;0.999;0.981;0.472	B;D;P;B	0.68943	0.217;0.961;0.788;0.217	T	0.64219	-0.6459	10	0.40728	T	0.16	-14.8248	8.4904	0.33098	0.0:0.8967:0.0:0.1033	.	384;384;384;384	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	R	384	ENSP00000355045:P384R;ENSP00000354917:P384R;ENSP00000371668:P384R	ENSP00000354917:P384R	P	+	2	0	FAM179B	44502525	0.988000	0.35896	0.998000	0.56505	0.988000	0.76386	2.418000	0.44662	2.365000	0.80145	0.555000	0.69702	CCT		0.423	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		4	65	0	0	0	1	0	4	65					G	45432775	C	G	45432775	3	3	37	1	0	0	0	0	1	0	0	0	5511	681	24	5	1153	5	FAM179B	14	45432775	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	25043674	45432775	61916765	249	3613										
FANCM	57697	broad.mit.edu	37	chr14	45642401	45642401	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	atgcaaatgatagagggaatGagacacgaagaggtggggtt	16	3	0	4			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:45642401G>A	ENST00000267430.5	+	13	2389	c.2304G>A	c.(2302-2304)atG>atA	p.M768I	FANCM_ENST00000542564.2_Missense_Mutation_p.M742I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	768					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						TAGAGGGAATGAGACACGAAG	0.373								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.(2302-2304)atG>atA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							169	158	162					14																	45642401		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.chr14:45642401G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2304G>A	14.37:g.45642401G>A	ENSP00000267430:p.Met768Ile		Somatic				FANCM_ENST00000542564.2_Missense_Mutation_p.M742I	p.M768I	NM_020937.2	NP_065988.1	WXS	Illumina GAIIx	Phase_I	Q8IYD8	FANCM_HUMAN			13	2389	+			768					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.2304G>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355046	0.41700	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.23348	2.63;2.61;1.91	5.79	3.58	0.41010	.	0.124507	0.64402	N	0.000001	T	0.21103	0.0508	L	0.45581	1.43	0.37624	D	0.921411	B;B	0.30889	0.299;0.299	B;B	0.22152	0.038;0.035	T	0.14309	-1.0477	10	0.42905	T	0.14	.	12.0925	0.53736	0.0763:0.1251:0.7986:0.0	.	742;768	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	I	768;742;284	ENSP00000267430:M768I;ENSP00000442493:M742I;ENSP00000452033:M284I	ENSP00000267430:M768I	M	+	3	0	FANCM	44712151	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.679000	0.61649	1.398000	0.46701	0.561000	0.74099	ATG		0.373	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		6	47	0	0	0	1	0	6	47					A	45642401	G	A	45642401	3	1	37	1	0	0	0	0	1	0	0	0	5679	1290	45	3	2354	3	FANCM	14	45642401	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	209626	45642401	61707139	250	3614										
FANCM	57697	broad.mit.edu	37	chr14	45665636	45665636	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tggtggtggaaaggaggtctCaatctgagatgttaaatagt	14	3	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:45665636C>G	ENST00000267430.5	+	21	5687	c.5602C>G	c.(5602-5604)Caa>Gaa	p.Q1868E	FANCM_ENST00000542564.2_Missense_Mutation_p.Q1842E	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1868	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						AAGGAGGTCTCAATCTGAGAT	0.403								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.(5602-5604)Caa>Gaa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							154	139	144					14																	45665636		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.chr14:45665636C>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.5602C>G	14.37:g.45665636C>G	ENSP00000267430:p.Gln1868Glu		Somatic				FANCM_ENST00000542564.2_Missense_Mutation_p.Q1842E	p.Q1868E	NM_020937.2	NP_065988.1	WXS	Illumina GAIIx	Phase_I	Q8IYD8	FANCM_HUMAN			21	5687	+			1868			Interaction with FAAP24 and EME1.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.5602C>G	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.983038|3.983038	0.74474|0.74474	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.20598|.	2.69;2.67;2.06|.	5.27|5.27	5.27|5.27	0.74061|0.74061	DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);ERCC4 domain (1);|.	0.137522|.	0.49916|.	D|.	0.000129|.	T|.	0.68155|.	0.2970|.	L|L	0.57536|0.57536	1.79|1.79	0.34996|0.34996	D|D	0.755497|0.755497	D;D|.	0.67145|.	0.996;0.996|.	P;P|.	0.54499|.	0.754;0.754|.	T|.	0.73652|.	-0.3915|.	10|.	0.46703|.	T|.	0.11|.	.|.	18.5024|18.5024	0.90887|0.90887	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1842;1868|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	E|X	1868;1842;1384|835	ENSP00000267430:Q1868E;ENSP00000442493:Q1842E;ENSP00000452033:Q1384E|.	ENSP00000267430:Q1868E|.	Q|S	+|+	1|2	0|0	FANCM|FANCM	44735386|44735386	0.042000|0.042000	0.20092|0.20092	0.719000|0.719000	0.30619|0.30619	0.947000|0.947000	0.59692|0.59692	2.407000|2.407000	0.44565|0.44565	2.468000|2.468000	0.83385|0.83385	0.563000|0.563000	0.77884|0.77884	CAA|TCA		0.403	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		8	66	0	0	0	1	0	8	66					G	45665636	C	G	45665636	3	3	37	1	0	0	0	0	1	0	0	0	5679	827	29	2	5684	2	FANCM	14	45665636	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	23235	45665636	61683904	251	3615										
SLC8A3	6547	broad.mit.edu	37	chr14	70633450	70633450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttctactgtcctaaaggggaCgatgactgtaccccgggcac	11	12	1	1	rs76086886		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:70633450C>T	ENST00000381269.2	-	2	2443	c.1690G>A	c.(1690-1692)Gtc>Atc	p.V564I	SLC8A3_ENST00000357887.3_Missense_Mutation_p.V564I|SLC8A3_ENST00000534137.1_Missense_Mutation_p.V564I|SLC8A3_ENST00000528359.1_Missense_Mutation_p.V564I|SLC8A3_ENST00000356921.2_Missense_Mutation_p.V564I	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	564	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTAAAGGGGACGATGACTGTA	0.468													C|||	1	0.000199681	8e-04	0	5008	,	,		21296	0		0	False		,,,				2504	0					ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1690-1692)Gtc>Atc		solute carrier family 8 (sodium/calcium exchanger), member 3							107	104	105					14																	70633450		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633450C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1690G>A	14.37:g.70633450C>T	ENSP00000370669:p.Val564Ile		Somatic				SLC8A3_ENST00000357887.3_Missense_Mutation_p.V564I|SLC8A3_ENST00000534137.1_Missense_Mutation_p.V564I|SLC8A3_ENST00000528359.1_Missense_Mutation_p.V564I|SLC8A3_ENST00000356921.2_Missense_Mutation_p.V564I	p.V564I	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	WXS	Illumina GAIIx	Phase_I	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2443	-			564			Calx-beta 2.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1690G>A	CCDS35498.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.661	0.122908	0.08931	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.69	1.17	0.20885	Na-Ca exchanger/integrin-beta4 (2);	0.195354	0.43919	N	0.000512	T	0.39462	0.1079	L	0.39326	1.205	0.58432	D	0.999996	B;B;B;B	0.10296	0.001;0.003;0.0;0.0	B;B;B;B	0.09377	0.002;0.004;0.001;0.001	T	0.16897	-1.0387	10	0.22706	T	0.39	.	11.6098	0.51053	0.0:0.712:0.0:0.288	.	564;564;564;564	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	I	564	ENSP00000349392:V564I;ENSP00000370669:V564I;ENSP00000350560:V564I;ENSP00000436688:V564I;ENSP00000433531:V564I	ENSP00000349392:V564I	V	-	1	0	SLC8A3	69703203	1.000000	0.71417	0.985000	0.45067	0.883000	0.51084	2.194000	0.42668	0.310000	0.22990	-0.128000	0.14901	GTC		0.468	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			9	49	0	0	0	1	0	9	49					T	70633450	C	T	70633450	3	4	37	1	0	0	0	0	1	0	0	0	14723	536	19	1	1232	1	SLC8A3	14	70633450	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	24967814	70633450	36716090	252	3616										
ALDH6A1	4329	broad.mit.edu	37	chr14	74534271	74534271	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctaccccatggttcttggctCcctaaaaaaaaatgcagaaa	6	11	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:74534271C>A	ENST00000553458.1	-	8	952	c.854G>T	c.(853-855)gGa>gTa	p.G285V	AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000555126.1_Splice_Site_p.G2V|ALDH6A1_ENST00000350259.4_Splice_Site_p.G272V|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	285					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)		GTTCTTGGCTCCCTAAAAAAA	0.478																																						ENST00000553458.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.e8-1		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						58	60	59					14																	74534271		2203	4300	6503	SO:0001630	splice_region_variant	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74534271C>A	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.853-1G>T	14.37:g.74534271C>A			Somatic				ALDH6A1_ENST00000555126.1_Splice_Site_p.G2_splice|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000350259.4_Splice_Site_p.G272_splice|AC005484.5_ENST00000492026.1_RNA	p.G285_splice	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)	8	952	-			285					B2R609|B4DFS8|J3KNU8|Q9UKM8	Splice_Site	SNP	ENST00000553458.1	37	c.852_splice	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906502	0.92107	.	.	ENSG00000119711	ENST00000553458;ENST00000350259;ENST00000555126	D;D;D	0.87179	-2.22;-2.22;-2.22	5.93	5.93	0.95920	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	H	0.98918	4.37	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.97755	1.0217	10	0.87932	D	0	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	272;285	B4DFS8;Q02252	.;MMSA_HUMAN	V	285;272;2	ENSP00000450436:G285V;ENSP00000342564:G272V;ENSP00000452081:G2V	ENSP00000342564:G285V	G	-	2	0	ALDH6A1	73604024	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.805000	0.86005	2.814000	0.96858	0.591000	0.81541	GGA		0.478	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1		Missense_Mutation	4	31	1	0	2.56e-06	1	2.69637e-06	4	31					A	74534271	C	A	74534271	5	1	37	1	0	0	0	0	0	0	1	0	503	869	30	2	773	2	ALDH6A1	14	74534271	Splice_Site	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	3900821	74534271	32815269	253	3617										
VSX2	338917	broad.mit.edu	37	chr14	74707950	74707950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctttaaaccagaccaagaaaCggaagaagcggcgacacagg	11	10	0	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:74707950C>T	ENST00000261980.2	+	2	526	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	146					cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GACCAAGAAACGGAAGAAGCG	0.587																																						ENST00000261980.2																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(436-438)Cgg>Tgg		visual system homeobox 2							76	80	79					14																	74707950		2203	4300	6503	SO:0001583	missense	338917				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:74707950C>T	AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"Homeoboxes / PRD class"	1975	protein-coding gene	gene with protein product		142993	"C elegans ceh-10 homeo domain-containing homolog", "ceh-10 homeo domain containing homolog (C. elegans)", "ceh-10 homeodomain containing homolog (C. elegans)"	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.436C>T	14.37:g.74707950C>T	ENSP00000261980:p.Arg146Trp		Somatic					p.R146W	NM_182894.2	NP_878314.1	WXS	Illumina GAIIx	Phase_I	P58304	VSX2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00154)	2	526	+			146					A1A4X6	Missense_Mutation	SNP	ENST00000261980.2	37	c.436C>T	CCDS9827.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078786	0.76528	.	.	ENSG00000119614	ENST00000261980	D	0.96011	-3.88	4.56	3.64	0.41730	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95912	0.8669	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96137	0.9097	10	0.87932	D	0	.	13.8211	0.63320	0.1543:0.8457:0.0:0.0	.	146	P58304	VSX2_HUMAN	W	146	ENSP00000261980:R146W	ENSP00000261980:R146W	R	+	1	2	VSX2	73777703	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.376000	0.44292	1.106000	0.41623	0.462000	0.41574	CGG		0.587	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412323.1	NM_182894		7	50	0	0	0	1	0	7	50					T	74707950	C	T	74707950	3	4	37	1	0	0	0	0	1	0	0	0	17247	527	19	1	442	1	VSX2	14	74707950	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	173679	74707950	32641590	254	3618										
ESRRB	2103	broad.mit.edu	37	chr14	76928925	76928925	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tgcccggccaccaacgagtgCgagatcaccaaacggaggcg	13	14	1	1	rs1064439		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:76928925C>T	ENST00000509242.1	+	4	533	c.435C>T	c.(433-435)tgC>tgT	p.C145C	ESRRB_ENST00000261532.7_Silent_p.C145C|ESRRB_ENST00000380887.2_Silent_p.C145C|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Silent_p.C145C	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	145					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCAACGAGTGCGAGATCACCA	0.632																																						ENST00000380887.2																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(433-435)tgC>tgT		estrogen-related receptor beta		C		0,4406		0,0,2203	70	68	69		435	-0.9	1	14	dbSNP_86	69	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ESRRB	NM_004452.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		145/509	76928925	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76928925C>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"Nuclear hormone receptors"	3473	protein-coding gene	gene with protein product		602167	"deafness, autosomal recessive 35"	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.435C>T	14.37:g.76928925C>T			Somatic				ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Silent_p.C145C|ESRRB_ENST00000261532.7_Silent_p.C145C|ESRRB_ENST00000509242.1_Silent_p.C145C	p.C145C			WXS	Illumina GAIIx	Phase_I	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	3	507	+			145					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Silent	SNP	ENST00000509242.1	37	c.435C>T	CCDS9850.2																																																																																				0.632	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			22	51	0	0	0	1	0	22	51					T	76928925	C	T	76928925	2	4	37	1	0	0	0	0	0	0	0	1	5263	776	27	1		1	ESRRB	14	76928925	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	2220975	76928925	30420615	255	3619										
TECPR2	9895	broad.mit.edu	37	chr14	102906847	102906847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aagtcaccatcaaggggaagCggcactggtacgaagccctg	13	11	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:102906847C>T	ENST00000359520.7	+	11	2879	c.2653C>T	c.(2653-2655)Cgg>Tgg	p.R885W	TECPR2_ENST00000558678.1_Missense_Mutation_p.R885W	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	885					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						CAAGGGGAAGCGGCACTGGTA	0.517																																						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.(2653-2655)Cgg>Tgg		tectonin beta-propeller repeat containing 2							74	78	77					14																	102906847		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102906847C>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2653C>T	14.37:g.102906847C>T	ENSP00000352510:p.Arg885Trp		Somatic				TECPR2_ENST00000558678.1_Missense_Mutation_p.R885W	p.R885W	NM_014844.3	NP_055659.2	WXS	Illumina GAIIx	Phase_I	O15040	TCPR2_HUMAN			11	2879	+			885					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.2653C>T	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	C	32	5.141515	0.94560	.	.	ENSG00000196663	ENST00000359520	T	0.80480	-1.38	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.86213	0.5879	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.991;0.998	D	0.86445	0.1769	10	0.72032	D	0.01	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	68;885;885	B4DSD3;A5PKY3;O15040	.;.;TCPR2_HUMAN	W	885	ENSP00000352510:R885W	ENSP00000352510:R885W	R	+	1	2	TECPR2	101976600	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.311000	0.43717	2.937000	0.99478	0.650000	0.86243	CGG		0.517	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		11	80	0	0	0	1	0	11	80					T	102906847	C	T	102906847	3	4	37	1	0	0	0	0	1	0	0	0	15759	759	27	1	2691	1	TECPR2	14	102906847	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	25977922	102906847	4442693	256	3620										
TRPM1	4308	broad.mit.edu	37	chr15	31323322	31323322	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	actccgaaactcatgagcacGaccagcatgatgaccacaaa	7	13	1	3	rs115529590	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:31323322G>A	ENST00000256552.6	-	23	3138	c.2991C>T	c.(2989-2991)gtC>gtT	p.V997V	RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Silent_p.V975V|TRPM1_ENST00000542188.1_Silent_p.V1014V	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)		TCATGAGCACGACCAGCATGA	0.512													G|||	14	0.00279553	0.0106	0	5008	,	,		20634	0		0	False		,,,				2504	0					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.(3040-3042)gtC>gtT		transient receptor potential cation channel, subfamily M, member 1		G		37,4221		1,35,2093	101	98	99		2925	-11.8	0.1	15	dbSNP_132	99	0,8534		0,0,4267	no	coding-synonymous	TRPM1	NM_002420.4		1,35,6360	AA,AG,GG		0.0,0.869,0.2892		975/1604	31323322	37,12755	2129	4267	6396	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31323322G>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.2991C>T	15.37:g.31323322G>A			Somatic				TRPM1_ENST00000397795.2_Silent_p.V975V|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000256552.6_Silent_p.V997V	p.V1014V	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)	22	3355	-		all_lung(180;1.92e-11)	975						Silent	SNP	ENST00000256552.6	37	c.3042C>T	CCDS58346.1																																																																																				0.512	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		11	56	0	0	0	1	0	11	56					A	31323322	G	A	31323322	2	1	37	1	0	0	0	0	0	0	0	1	16600	1045	37	1		1	TRPM1	15	31323322	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08		31323322	71208070	257	3621										
AVEN	57099	broad.mit.edu	37	chr15	34159950	34159950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cagatttcagctcaaagatgGgcccccttcctccaggcccc	8	17	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:34159950G>A	ENST00000306730.3	-	5	848	c.719C>T	c.(718-720)cCc>cTc	p.P240L	RP11-3D4.2_ENST00000560268.1_RNA|AVEN_ENST00000558136.1_5'Flank	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	240					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	intracellular (GO:0005622)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		CTCAAAGATGGGCCCCCTTCC	0.547																																						ENST00000306730.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7						c.(718-720)cCc>cTc		apoptosis, caspase activation inhibitor							59	60	60					15																	34159950		2201	4298	6499	SO:0001583	missense	57099				anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding	g.chr15:34159950G>A	AF283508	CCDS10030.1	15q13.1	2011-10-19		2008-07-07	ENSG00000169857	ENSG00000169857			13509	protein-coding gene	gene with protein product	"cell death regulator aven", "programmed cell death 12"	605265				10949025	Standard	XM_005254563		Approved	PDCD12	uc001zhj.3	Q9NQS1	OTTHUMG00000129371	ENST00000306730.3:c.719C>T	15.37:g.34159950G>A	ENSP00000306822:p.Pro240Leu		Somatic					p.P240L	NM_020371.2	NP_065104.1	WXS	Illumina GAIIx	Phase_I	Q9NQS1	AVEN_HUMAN		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)	5	848	-		all_lung(180;1.78e-08)	240						Missense_Mutation	SNP	ENST00000306730.3	37	c.719C>T	CCDS10030.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612897	0.28712	.	.	ENSG00000169857	ENST00000306730	T	0.47177	0.85	4.43	4.43	0.53597	.	0.539028	0.18726	N	0.132873	T	0.26231	0.0640	N	0.08118	0	0.09310	N	0.999999	B	0.10296	0.003	B	0.13407	0.009	T	0.07252	-1.0782	10	0.28530	T	0.3	-0.0828	10.1125	0.42572	0.1016:0.0:0.8984:0.0	.	240	Q9NQS1	AVEN_HUMAN	L	240	ENSP00000306822:P240L	ENSP00000306822:P240L	P	-	2	0	AVEN	31947242	0.227000	0.23707	0.011000	0.14972	0.020000	0.10135	4.013000	0.57138	2.747000	0.94245	0.543000	0.68304	CCC		0.547	AVEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251523.2	NM_020371		6	84	0	0	0	1	0	6	84					A	34159950	G	A	34159950	3	1	37	1	0	0	0	0	1	0	0	0	1226	1232	43	3	377	3	AVEN	15	34159950	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	2836628	34159950	68371442	258	3622										
MGA	23269	broad.mit.edu	37	chr15	42021388	42021388	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gaagaggacaaagatccagtCtacttgtactttgaaagtat	9	6	1	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:42021388C>T	ENST00000570161.1	+	10	3684	c.3684C>T	c.(3682-3684)gtC>gtT	p.V1228V	MGA_ENST00000219905.7_Silent_p.V1228V|MGA_ENST00000566586.1_Silent_p.V1228V|MGA_ENST00000545763.1_Silent_p.V1228V|MGA_ENST00000389936.4_Silent_p.V1228V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.V1228V(1)		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)	AAGATCCAGTCTACTTGTACT	0.408																																						ENST00000219905.7																			1	Substitution - coding silent(1)	p.V1228V(1)	ovary(1)	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.(3682-3684)gtC>gtT		MGA, MAX dimerization protein							90	87	88					15																	42021388		1885	4108	5993	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42021388C>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.3684C>T	15.37:g.42021388C>T			Somatic				MGA_ENST00000566586.1_Silent_p.V1228V|MGA_ENST00000545763.1_Silent_p.V1228V|MGA_ENST00000570161.1_Silent_p.V1228V|MGA_ENST00000389936.4_Silent_p.V1228V	p.V1228V	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)	11	3865	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1228					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.3684C>T	CCDS55959.1																																																																																				0.408	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		5	14	0	0	0	1	0	5	14					T	42021388	C	T	42021388	2	4	37	1	0	0	0	0	0	0	0	1	9549	900	32	3		3	MGA	15	42021388	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	7861438	42021388	60510004	259	3623										
SPG11	80208	broad.mit.edu	37	chr15	44876090	44876090	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttgtaggagagcatggatctCtgggtgcagatcctccatac	12	9	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:44876090C>T	ENST00000261866.7	-	30	5804	c.5788G>A	c.(5788-5790)Gag>Aag	p.E1930K	SPG11_ENST00000558253.1_5'Flank|SPG11_ENST00000535302.2_Missense_Mutation_p.E1930K|SPG11_ENST00000427534.2_Missense_Mutation_p.E1930K|SPG11_ENST00000558319.1_Missense_Mutation_p.E1930K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1930					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)		GCATGGATCTCTGGGTGCAGA	0.498																																						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.(5788-5790)Gag>Aag		spastic paraplegia 11 (autosomal recessive)							99	92	94					15																	44876090		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44876090C>T		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.5788G>A	15.37:g.44876090C>T	ENSP00000261866:p.Glu1930Lys		Somatic				SPG11_ENST00000427534.2_Missense_Mutation_p.E1930K|SPG11_ENST00000558319.1_Missense_Mutation_p.E1930K|SPG11_ENST00000535302.2_Missense_Mutation_p.E1930K	p.E1930K	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)	30	5804	-		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)	1930					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.5788G>A	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943642	0.92593	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.77877	-1.13;-1.07;-0.88	5.62	4.65	0.58169	.	0.282965	0.33144	N	0.005222	D	0.84938	0.5583	M	0.69823	2.125	0.80722	D	1	P;D;P;P	0.63880	0.921;0.993;0.921;0.921	B;P;B;B	0.58520	0.419;0.84;0.419;0.419	D	0.86716	0.1939	10	0.72032	D	0.01	.	16.0119	0.80409	0.0:0.8656:0.1343:0.0	.	1930;1930;1930;1930	C4B7M2;F5H3N6;C4B7M4;Q96JI7	.;.;.;SPTCS_HUMAN	K	1930	ENSP00000261866:E1930K;ENSP00000445278:E1930K;ENSP00000396110:E1930K	ENSP00000261866:E1930K	E	-	1	0	SPG11	42663382	0.997000	0.39634	0.990000	0.47175	0.890000	0.51754	4.476000	0.60216	2.656000	0.90262	0.563000	0.77884	GAG		0.498	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			27	70	0	0	0	1	0	27	70					T	44876090	C	T	44876090	3	4	37	1	0	0	0	0	1	0	0	0	15056	922	32	3	1587	3	SPG11	15	44876090	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	2854702	44876090	57655302	260	3624										
DUOX1	53905	broad.mit.edu	37	chr15	45455856	45455856	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tctacatcacccagctggctGagaagttcgacctcaggacc	9	14	3	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:45455856G>A	ENST00000321429.4	+	33	4782	c.4375G>A	c.(4375-4377)Gag>Aag	p.E1459K	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.E1459K|DUOX1_ENST00000561166.1_Missense_Mutation_p.E1105K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1459					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)		CCAGCTGGCTGAGAAGTTCGA	0.577											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(4375-4377)Gag>Aag		dual oxidase 1							141	127	132					15																	45455856		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45455856G>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.4375G>A	15.37:g.45455856G>A	ENSP00000317997:p.Glu1459Lys		Somatic	OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.E1105K|DUOX1_ENST00000389037.3_Missense_Mutation_p.E1459K	p.E1459K	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)	33	4782	+		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)	1459					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.4375G>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246756	0.95305	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.94931	-3.56;-3.56	4.36	4.36	0.52297	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.95611	0.8573	L	0.48174	1.505	0.80722	D	1	D	0.67145	0.996	D	0.70016	0.967	D	0.95948	0.8952	10	0.72032	D	0.01	-26.9976	14.4383	0.67298	0.0:0.0:1.0:0.0	.	1459	Q9NRD9	DUOX1_HUMAN	K	1459	ENSP00000317997:E1459K;ENSP00000373689:E1459K	ENSP00000317997:E1459K	E	+	1	0	DUOX1	43243148	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.661000	0.83786	2.243000	0.73865	0.491000	0.48974	GAG		0.577	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		11	149	0	0	0	1	0	11	149					A	45455856	G	A	45455856	3	1	37	1	0	0	0	0	1	0	0	0	4802	1291	45	3	4497	3	DUOX1	15	45455856	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	579766	45455856	57075536	261	3625										
SEMA6D	80031	broad.mit.edu	37	chr15	48058076	48058076	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cacaaaataggtgcagtgctGagaatgaggaagacaaaaag	12	5	0	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:48058076G>A	ENST00000316364.5	+	14	1877	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	SEMA6D_ENST00000358066.4_Missense_Mutation_p.E480K|SEMA6D_ENST00000536845.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000355997.3_Missense_Mutation_p.E480K|SEMA6D_ENST00000389428.3_Missense_Mutation_p.E480K|SEMA6D_ENST00000558816.1_Missense_Mutation_p.E480K|SEMA6D_ENST00000537942.1_Missense_Mutation_p.E480K|SEMA6D_ENST00000354744.4_Missense_Mutation_p.E480K|SEMA6D_ENST00000558014.1_Missense_Mutation_p.E480K|SEMA6D_ENST00000389432.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000389433.2_Missense_Mutation_p.E480K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	480	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)		GTGCAGTGCTGAGAATGAGGA	0.423																																						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.(1438-1440)Gag>Aag		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							164	141	149					15																	48058076		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48058076G>A	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.1438G>A	15.37:g.48058076G>A	ENSP00000324857:p.Glu480Lys		Somatic				SEMA6D_ENST00000355997.3_Missense_Mutation_p.E480K|SEMA6D_ENST00000358066.4_Missense_Mutation_p.E480K|SEMA6D_ENST00000389432.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000389428.3_Missense_Mutation_p.E480K|SEMA6D_ENST00000537942.1_Missense_Mutation_p.E480K|SEMA6D_ENST00000558816.1_Missense_Mutation_p.E480K|SEMA6D_ENST00000536845.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000389433.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000558014.1_Missense_Mutation_p.E480K|SEMA6D_ENST00000354744.4_Missense_Mutation_p.E480K	p.E480K	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	1877	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	480			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1438G>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637315	0.29157	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997	T;T;T;T;T;T;T;T;T	0.17528	2.34;2.33;2.33;2.35;2.35;2.34;2.34;2.34;2.27	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.238525	0.44285	D	0.000464	T	0.16385	0.0394	L	0.43152	1.355	0.46279	D	0.998967	B;B;B;B;B	0.26512	0.007;0.003;0.004;0.151;0.007	B;B;B;B;B	0.33121	0.01;0.006;0.007;0.158;0.01	T	0.04650	-1.0936	10	0.09590	T	0.72	.	13.046	0.58925	0.0734:0.0:0.9266:0.0	.	480;480;480;480;480	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	K	480	ENSP00000442040:E480K;ENSP00000446152:E480K;ENSP00000324857:E480K;ENSP00000374084:E480K;ENSP00000374083:E480K;ENSP00000346786:E480K;ENSP00000350770:E480K;ENSP00000374079:E480K;ENSP00000348276:E480K	ENSP00000324857:E480K	E	+	1	0	SEMA6D	45845368	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	6.145000	0.71769	2.680000	0.91292	0.650000	0.86243	GAG		0.423	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		13	81	0	0	0	1	0	13	81					A	48058076	G	A	48058076	3	1	37	1	0	0	0	0	1	0	0	0	14057	1291	45	3	1492	3	SEMA6D	15	48058076	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	2602220	48058076	54473316	262	3626										
GNB5	10681	broad.mit.edu	37	chr15	52416726	52416726	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	agtcccatcgggggaaactcGtagagtgctaacgcggtttt	13	9	0	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:52416726G>A	ENST00000261837.7	-	12	1185	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	GNB5_ENST00000396335.4_Nonsense_Mutation_p.R262*|CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000358784.7_Nonsense_Mutation_p.R332*|CTD-2184D3.6_ENST00000559825.1_lincRNA	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	374					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)		GGGGAAACTCGTAGAGTGCTA	0.488																																						ENST00000261837.7																			0				large_intestine(1)|lung(1)	2						c.(1120-1122)Cga>Tga		guanine nucleotide binding protein (G protein), beta 5							108	107	107					15																	52416726		2195	4293	6488	SO:0001587	stop_gained	0					heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr15:52416726G>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.1120C>T	15.37:g.52416726G>A	ENSP00000261837:p.Arg374*		Somatic				GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000358784.7_Nonsense_Mutation_p.R332*|GNB5_ENST00000396335.4_Nonsense_Mutation_p.R262*	p.R374*	NM_016194.3	NP_057278.2	WXS	Illumina GAIIx	Phase_I	O14775	GBB5_HUMAN		all cancers(107;0.0163)	12	1185	-			374					B2RBR5|Q9HAU9|Q9UFT3	Nonsense_Mutation	SNP	ENST00000261837.7	37	c.1120C>T	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129298	0.77549	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	.	.	.	5.98	3.05	0.35203	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-13.7631	12.3539	0.55163	0.0:0.116:0.6424:0.2416	.	.	.	.	X	374;332;172;262	.	ENSP00000261837:R374X	R	-	1	2	GNB5	50204018	1.000000	0.71417	0.012000	0.15200	0.290000	0.27261	3.488000	0.53229	0.412000	0.25729	-0.194000	0.12790	CGA		0.488	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			7	121	0	0	0	1	0	7	121					A	52416726	G	A	52416726	4	1	37	1	0	0	0	0	0	1	0	0	6529	1153	40	1	75	1	GNB5	15	52416726	Nonsense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	4358650	52416726	50114666	263	3627										
MYO5C	55930	broad.mit.edu	37	chr15	52511996	52511996	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctcttgactgcgatgtaactGattagacaattcttctagtt	7	8	3	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:52511996G>C	ENST00000261839.7	-	31	3906	c.3745C>G	c.(3745-3747)Cag>Gag	p.Q1249E		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1249						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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)		CGATGTAACTGATTAGACAAT	0.378																																						ENST00000261839.7																			0				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.(3745-3747)Cag>Gag		myosin VC							130	112	118					15																	52511996		1887	4108	5995	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52511996G>C	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.3745C>G	15.37:g.52511996G>C	ENSP00000261839:p.Gln1249Glu		Somatic					p.Q1249E	NM_018728.3	NP_061198.2	WXS	Illumina GAIIx	Phase_I	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	31	3906	-			1249					Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.3745C>G	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	G	1.694	-0.503346	0.04261	.	.	ENSG00000128833	ENST00000261839	D	0.88354	-2.37	4.7	3.77	0.43336	.	1.189710	0.05780	N	0.608383	T	0.77903	0.4200	N	0.08118	0	0.31589	N	0.654198	B	0.02656	0.0	B	0.01281	0.0	T	0.59188	-0.7501	10	0.02654	T	1	.	13.2359	0.59969	0.0:0.1598:0.8402:0.0	.	1249	Q9NQX4	MYO5C_HUMAN	E	1249	ENSP00000261839:Q1249E	ENSP00000261839:Q1249E	Q	-	1	0	MYO5C	50299288	0.834000	0.29399	0.012000	0.15200	0.434000	0.31775	3.138000	0.50570	1.296000	0.44742	0.655000	0.94253	CAG		0.378	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		9	19	0	0	0	1	0	9	19					C	52511996	G	C	52511996	3	2	37	1	0	0	0	0	1	0	0	0	10089	1299	45	2	1527	2	MYO5C	15	52511996	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	95270	52511996	50019396	264	3628										
RNF111	54778	broad.mit.edu	37	chr15	59373350	59373350	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gtacagctgcaccaatccctCagcatcttcctcctacacac	4	18	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:59373350C>A	ENST00000557998.1	+	8	2451	c.2164C>A	c.(2164-2166)Cag>Aag	p.Q722K	RNF111_ENST00000559209.1_Missense_Mutation_p.Q722K|RNF111_ENST00000561186.1_Missense_Mutation_p.Q722K|RNF111_ENST00000348370.4_Missense_Mutation_p.Q722K|RNF111_ENST00000434298.1_Missense_Mutation_p.Q722K	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	722	Pro-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|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 of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|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 SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q722*(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ACCAATCCCTCAGCATCTTCC	0.502																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			1	Substitution - Nonsense(1)	p.Q722*(1)	upper_aerodigestive_tract(1)	breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2164-2166)Cag>Aag		ring finger protein 111							320	262	281					15																	59373350		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59373350C>A	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2164C>A	15.37:g.59373350C>A	ENSP00000452732:p.Gln722Lys		Somatic				RNF111_ENST00000557998.1_Missense_Mutation_p.Q722K|RNF111_ENST00000561186.1_Missense_Mutation_p.Q722K|RNF111_ENST00000559209.1_Missense_Mutation_p.Q722K|RNF111_ENST00000434298.1_Missense_Mutation_p.Q722K	p.Q722K	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	WXS	Illumina GAIIx	Phase_I	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	8	2597	+			722			Pro-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.2164C>A	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077163	0.94000	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.16073	2.4;2.37	5.55	5.55	0.83447	.	0.055843	0.64402	D	0.000001	T	0.42086	0.1187	M	0.61703	1.905	0.80722	D	1	D;D;D	0.69078	0.997;0.993;0.996	D;D;D	0.74674	0.984;0.952;0.979	T	0.15350	-1.0440	10	0.62326	D	0.03	-2.2323	19.5183	0.95174	0.0:1.0:0.0:0.0	.	722;722;722	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	K	722	ENSP00000288199:Q722K;ENSP00000393641:Q722K	ENSP00000288199:Q722K	Q	+	1	0	RNF111	57160642	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.294000	0.78760	2.613000	0.88420	0.467000	0.42956	CAG		0.502	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		16	116	1	0	1.3612e-06	1	1.44069e-06	16	116					A	59373350	C	A	59373350	3	1	37	1	0	0	0	0	1	0	0	0	13440	827	29	2	2190	2	RNF111	15	59373350	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	6861354	59373350	43158042	265	3629										
HDGFRP3	50810	broad.mit.edu	37	chr15	83826306	83826306	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cttctccctcagtttctgaaGagctctgttgctgaattgcc	8	12	4	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:83826306G>A	ENST00000299633.4	-	4	923	c.320C>T	c.(319-321)tCt>tTt	p.S107F		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		107					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AGTTTCTGAAGAGCTCTGTTG	0.348																																						ENST00000299633.4																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(319-321)tCt>tTt									85	77	80					15																	83826306		2203	4300	6503	SO:0001583	missense	0				cell proliferation	nucleus	growth factor activity	g.chr15:83826306G>A																												ENST00000299633.4:c.320C>T	15.37:g.83826306G>A	ENSP00000299633:p.Ser107Phe		Somatic					p.S107F	NM_016073.3	NP_057157.1	WXS	Illumina GAIIx	Phase_I	Q9Y3E1	HDGR3_HUMAN			4	923	-			107						Missense_Mutation	SNP	ENST00000299633.4	37	c.320C>T	CCDS32314.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963143	0.53507	.	.	ENSG00000166503	ENST00000299633	T	0.73789	-0.78	5.22	5.22	0.72569	.	0.130021	0.56097	D	0.000028	T	0.74099	0.3672	L	0.57536	1.79	0.46725	D	0.999172	B	0.20671	0.047	B	0.24269	0.052	T	0.71361	-0.4616	10	0.54805	T	0.06	.	19.1507	0.93487	0.0:0.0:1.0:0.0	.	107	Q9Y3E1	HDGR3_HUMAN	F	107	ENSP00000299633:S107F	ENSP00000299633:S107F	S	-	2	0	AC024270.1	81617310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.062000	0.76706	2.599000	0.87857	0.563000	0.77884	TCT		0.348	HDGFRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419898.1			6	22	0	0	0	1	0	6	22					A	83826306	G	A	83826306	3	1	37	1	0	0	0	0	1	0	0	0	7030	942	33	3	303	3	HDGFRP3	15	83826306	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	24452956	83826306	18705086	266	3630										
C15orf42	90381	broad.mit.edu	37	chr15	90167617	90167617	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tctctcctgccctgttccctCaactccccctgaactctcac	3	21	3	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:90167617C>G	ENST00000268138.7	+	20	4181	c.4076C>G	c.(4075-4077)tCa>tGa	p.S1359*	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Nonsense_Mutation_p.S1358*			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1359	Pro-rich.				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)										CCTGTTCCCTCAACTCCCCCT	0.527																																						ENST00000268138.7																			0											c.(4075-4077)tCa>tGa		TOPBP1-interacting checkpoint and replication regulator							133	132	133					15																	90167617		2200	4299	6499	SO:0001587	stop_gained	90381							g.chr15:90167617C>G	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.4076C>G	15.37:g.90167617C>G	ENSP00000268138:p.Ser1359*		Somatic				TICRR_ENST00000560985.1_Nonsense_Mutation_p.S1358*|KIF7_ENST00000558928.1_Intron	p.S1359*			WXS	Illumina GAIIx	Phase_I					20	4181	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Nonsense_Mutation	SNP	ENST00000268138.7	37	c.4076C>G	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	40	8.325081	0.98759	.	.	ENSG00000140534	ENST00000268138	.	.	.	4.86	2.97	0.34412	.	0.293748	0.28093	N	0.016637	.	.	.	.	.	.	0.23325	N	0.9979	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-4.3229	10.6643	0.45721	0.0:0.8413:0.0:0.1587	.	.	.	.	X	1359	.	ENSP00000268138:S1359X	S	+	2	0	C15orf42	87968621	0.000000	0.05858	0.012000	0.15200	0.246000	0.25737	0.097000	0.15168	0.569000	0.29329	0.655000	0.94253	TCA		0.527	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		16	110	0	0	0	1	0	16	110					G	90167617	C	G	90167617	4	3	37	1	0	0	0	0	0	1	0	0	1798	838	29	2	4154	2	C15orf42	15	90167617	Nonsense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	6341311	90167617	12363775	267	3631										
CACNA1H	8912	broad.mit.edu	37	chr16	1261782	1261782	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	acatcatgtacgacgggctgGatgccgtgggtgtcgaccag	15	10	1	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:1261782G>C	ENST00000348261.5	+	24	4791	c.4543G>C	c.(4543-4545)Gat>Cat	p.D1515H	CACNA1H_ENST00000565831.1_Missense_Mutation_p.D1515H|CACNA1H_ENST00000358590.4_Missense_Mutation_p.D1515H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1515					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)	CGACGGGCTGGATGCCGTGGG	0.662																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(4543-4545)Gat>Cat		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						66	72	70					16																	1261782		2118	4231	6349	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1261782G>C	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4543G>C	16.37:g.1261782G>C	ENSP00000334198:p.Asp1515His		Somatic				CACNA1H_ENST00000358590.4_Missense_Mutation_p.D1515H|CACNA1H_ENST00000565831.1_Missense_Mutation_p.D1515H	p.D1515H	NM_021098.2	NP_066921.2	WXS	Illumina GAIIx	Phase_I	O95180	CAC1H_HUMAN			24	4791	+		Hepatocellular(780;0.00369)	1515					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.4543G>C	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616275	0.66672	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97455	-4.39;-4.39	4.49	4.49	0.54785	Ion transport (1);	0.105831	0.64402	D	0.000007	D	0.99233	0.9733	H	0.99368	4.535	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.992;0.999	D	0.98378	1.0557	10	0.87932	D	0	.	16.6839	0.85300	0.0:0.0:1.0:0.0	.	256;256;256;1515;1515	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	H	1515	ENSP00000334198:D1515H;ENSP00000351401:D1515H	ENSP00000334198:D1515H	D	+	1	0	CACNA1H	1201783	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	9.341000	0.97041	2.486000	0.83907	0.491000	0.48974	GAT		0.662	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		8	73	0	0	0	1	0	8	73					C	1261782	G	C	1261782	3	2	37	1	0	0	0	0	1	0	0	0	2547	1174	41	2	4633	2	CACNA1H	16	1261782	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08		1261782	89092971	268	3632										
CHD9	80205	broad.mit.edu	37	chr16	53340214	53340214	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cactgagcactacccaggatGagactcaggatagttttcag	10	10	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:53340214G>A	ENST00000398510.3	+	31	6772	c.6685G>A	c.(6685-6687)Gag>Aag	p.E2229K	CHD9_ENST00000447540.1_Missense_Mutation_p.E2230K|CHD9_ENST00000564845.1_Missense_Mutation_p.E2229K|CHD9_ENST00000566029.1_Missense_Mutation_p.E2229K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2229					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)				TACCCAGGATGAGACTCAGGA	0.398																																						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.(6685-6687)Gag>Aag		chromodomain helicase DNA binding protein 9							93	92	93					16																	53340214		1907	4117	6024	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.chr16:53340214G>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.6685G>A	16.37:g.53340214G>A	ENSP00000381522:p.Glu2229Lys		Somatic				CHD9_ENST00000447540.1_Missense_Mutation_p.E2230K|CHD9_ENST00000564845.1_Missense_Mutation_p.E2229K|CHD9_ENST00000398510.3_Missense_Mutation_p.E2229K	p.E2229K			WXS	Illumina GAIIx	Phase_I	Q3L8U1	CHD9_HUMAN			32	6894	+		all_cancers(37;0.0212)	2229					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.6685G>A		.	.	.	.	.	.	.	.	.	.	G	27.5	4.834798	0.91036	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.90069	-2.48;-2.61	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000007	D	0.92941	0.7754	L	0.54323	1.7	0.58432	D	0.999999	D;D;D;D;D	0.71674	0.997;0.997;0.972;0.997;0.998	P;D;P;D;D	0.73380	0.877;0.98;0.737;0.95;0.969	D	0.89901	0.4044	10	0.23891	T	0.37	-17.1832	20.2422	0.98381	0.0:0.0:1.0:0.0	.	295;2229;2230;2229;2229	C9JR69;B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;.;CHD9_HUMAN;.	K	2230;2229;295	ENSP00000396345:E2230K;ENSP00000381522:E2229K	ENSP00000381522:E2229K	E	+	1	0	CHD9	51897715	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.168000	0.94781	2.788000	0.95919	0.650000	0.86243	GAG		0.398	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		4	38	0	0	0	1	0	4	38					A	53340214	G	A	53340214	3	1	37	1	0	0	0	0	1	0	0	0	3334	1291	45	3	6807	3	CHD9	16	53340214	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	52078432	53340214	37014539	269	3633										
CPNE2	221184	broad.mit.edu	37	chr16	57180017	57180017	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cagtacttcatcctcctcatCatcacggacggggtcatcag	8	14	6	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:57180017C>T	ENST00000535318.2	+	16	1684	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	CPNE2_ENST00000537605.1_Silent_p.I339I|CPNE2_ENST00000565874.1_Silent_p.I441I|CPNE2_ENST00000565951.1_3'UTR|CPNE2_ENST00000290776.8_Silent_p.I441I			Q96FN4	CPNE2_HUMAN	copine II	441	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TCCTCCTCATCATCACGGACG	0.612																																						ENST00000535318.2																			0				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21						c.(1321-1323)atC>atT		copine II							40	29	33					16																	57180017		2198	4300	6498	SO:0001819	synonymous_variant	221184							g.chr16:57180017C>T		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.1323C>T	16.37:g.57180017C>T			Somatic				CPNE2_ENST00000565874.1_Silent_p.I441I|CPNE2_ENST00000537605.1_Silent_p.I339I|CPNE2_ENST00000565951.1_3'UTR|CPNE2_ENST00000290776.8_Silent_p.I441I	p.I441I			WXS	Illumina GAIIx	Phase_I	Q96FN4	CPNE2_HUMAN			16	1684	+		all_neural(199;0.224)	441			VWFA.		Q68D19|Q719H8|Q86XP9	Silent	SNP	ENST00000535318.2	37	c.1323C>T	CCDS10774.1																																																																																				0.612	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		3	15	0	0	0	1	0	3	15					T	57180017	C	T	57180017	2	4	37	1	0	0	0	0	0	0	0	1	3814	816	29	3		3	CPNE2	16	57180017	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	3839803	57180017	33174736	270	3634										
COG4	25839	broad.mit.edu	37	chr16	70548413	70548413	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	atggcctgatagaggcggttCtgcaaaaagatttggtactt	12	6	1	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:70548413C>T	ENST00000323786.5	-	4	391		c.e4-1		COG4_ENST00000393612.4_Splice_Site|COG4_ENST00000564653.1_Splice_Site	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4						Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AGAGGCGGTTCTGCAAAAAGA	0.433																																						ENST00000323786.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.e4-1		component of oligomeric golgi complex 4							71	65	67					16																	70548413		2198	4300	6498	SO:0001630	splice_region_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70548413C>T	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.370-1G>A	16.37:g.70548413C>T			Somatic				COG4_ENST00000564653.1_Splice_Site|COG4_ENST00000393612.4_Splice_Site		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	WXS	Illumina GAIIx	Phase_I	Q9H9E3	COG4_HUMAN			4	391	-		Ovarian(137;0.0694)						B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Splice_Site	SNP	ENST00000323786.5	37		CCDS10892.2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655420	0.88056	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612;ENST00000534772	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4155	0.94694	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COG4	69105914	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.190000	0.77755	2.589000	0.87451	0.561000	0.74099	.		0.433	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3		Intron	6	19	0	0	0	1	0	6	19					T	70548413	C	T	70548413	5	4	37	1	0	0	0	0	0	0	1	0	3662	927	32	3	2064	3	COG4	16	70548413	Splice_Site	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	13368396	70548413	19806340	271	3635										
ZNF821	55565	broad.mit.edu	37	chr16	71898077	71898077	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	atcaactgctcccggctcccGcagtctagctggcagagggg	13	14	2	1	rs189263731		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:71898077G>A	ENST00000565601.1	-	5	788	c.381C>T	c.(379-381)tgC>tgT	p.C127C	ZNF821_ENST00000425432.1_Silent_p.C127C|ZNF821_ENST00000564943.1_5'UTR|ZNF821_ENST00000446827.2_Silent_p.C85C|ZNF821_ENST00000313565.6_Silent_p.C85C|ZNF821_ENST00000564134.1_Silent_p.C126C|ATXN1L_ENST00000569119.1_Intron	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	127					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(5)|lung(4)|ovary(2)	13						CCCGGCTCCCGCAGTCTAGCT	0.532													G|||	1	0.000199681	0	0.0014	5008	,	,		19018	0		0	False		,,,				2504	0					ENST00000425432.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						c.(379-381)tgC>tgT		zinc finger protein 821							91	94	93					16																	71898077		2198	4300	6498	SO:0001819	synonymous_variant	55565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71898077G>A	AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"Zinc fingers, C2H2-type"	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.381C>T	16.37:g.71898077G>A			Somatic				RP11-498D10.4_ENST00000569119.1_Intron|ZNF821_ENST00000564943.1_5'UTR|ZNF821_ENST00000313565.6_Silent_p.C85C|ZNF821_ENST00000446827.2_Silent_p.C85C|ZNF821_ENST00000565601.1_Silent_p.C127C|ZNF821_ENST00000564134.1_Silent_p.C126C|RP11-498D10.4_ENST00000568581.1_Intron	p.C127C	NM_001201552.1	NP_001188481.1	WXS	Illumina GAIIx	Phase_I	O75541	ZN821_HUMAN			6	760	-			127					A6NK48|B4DKK4|D3DWS3	Silent	SNP	ENST00000565601.1	37	c.381C>T	CCDS56006.1																																																																																				0.532	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530		13	71	0	0	0	1	0	13	71					A	71898077	G	A	71898077	2	1	37	1	0	0	0	0	0	0	0	1	18193	1079	38	1		1	ZNF821	16	71898077	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	1349664	71898077	18456676	272	3636										
VAT1L	57687	broad.mit.edu	37	chr16	77859228	77859228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ggagtttgtctacaagatccCggatgacatgagcttctccg	11	10	2	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:77859228C>T	ENST00000302536.2	+	3	602	c.449C>T	c.(448-450)cCg>cTg	p.P150L		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	150							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TACAAGATCCCGGATGACATG	0.522																																						ENST00000302536.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(448-450)cCg>cTg		vesicle amine transport 1-like							144	120	128					16																	77859228		2198	4300	6498	SO:0001583	missense	57687						oxidoreductase activity|zinc ion binding	g.chr16:77859228C>T	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"vesicle amine transport protein 1 homolog (T. californica)-like"			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.449C>T	16.37:g.77859228C>T	ENSP00000303129:p.Pro150Leu		Somatic					p.P150L	NM_020927.1	NP_065978.1	WXS	Illumina GAIIx	Phase_I	Q9HCJ6	VAT1L_HUMAN			3	602	+			150					Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	c.449C>T	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182817	0.94885	.	.	ENSG00000171724	ENST00000302536	T	0.61859	0.07	6.03	6.03	0.97812	GroES-like (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84014	0.5379	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87273	0.2287	10	0.87932	D	0	-4.0777	20.1519	0.98089	0.0:1.0:0.0:0.0	.	150	Q9HCJ6	VAT1L_HUMAN	L	150	ENSP00000303129:P150L	ENSP00000303129:P150L	P	+	2	0	VAT1L	76416729	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	CCG		0.522	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		14	28	0	0	0	1	0	14	28					T	77859228	C	T	77859228	3	4	37	1	0	0	0	0	1	0	0	0	17145	652	23	1	459	1	VAT1L	16	77859228	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	5961151	77859228	12495525	273	3637										
CTU2	9780	broad.mit.edu	37	chr16	88780614	88780614	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gctgcagacccagttcccctCcactgtcagcactgtgtaca	8	16	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:88780614C>T	ENST00000301015.9	-	0	8072				CTU2_ENST00000453996.2_Missense_Mutation_p.S359F|MIR4722_ENST00000578292.1_RNA|CTU2_ENST00000312060.5_Missense_Mutation_p.S359F|CTU2_ENST00000567949.1_Missense_Mutation_p.S430F|CTU2_ENST00000378384.3_Missense_Mutation_p.S272F	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						CAGTTCCCCTCCACTGTCAGC	0.627																																						ENST00000567949.1																			0				NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1288-1290)tCc>tTc		cytosolic thiouridylase subunit 2 homolog (S. pombe)							81	73	76					16																	88780614		2190	4296	6486	SO:0001628	intergenic_variant	348180				tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	g.chr16:88780614C>T	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"family with sequence similarity 38, member A"	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88780614C>T			Somatic				CTU2_ENST00000453996.2_Missense_Mutation_p.S359F|CTU2_ENST00000312060.5_Missense_Mutation_p.S359F|CTU2_ENST00000378384.3_Missense_Mutation_p.S272F	p.S430F			WXS	Illumina GAIIx	Phase_I	Q2VPK5	CTU2_HUMAN			10	1298	+			359					A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	ENST00000301015.9	37	c.1289C>T	CCDS54058.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203364	0.79127	.	.	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.53206	0.63;0.63;0.63	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	0.996;0.996;1.0	P;P;D	0.97110	0.892;0.881;1.0	T	0.73100	-0.4089	10	0.87932	D	0	.	18.1689	0.89737	0.0:1.0:0.0:0.0	.	272;359;359	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	F	272;359;359	ENSP00000367635:S272F;ENSP00000308617:S359F;ENSP00000388320:S359F	ENSP00000308617:S359F	S	+	2	0	CTU2	87308115	0.998000	0.40836	0.981000	0.43875	0.810000	0.45777	3.309000	0.51903	2.466000	0.83321	0.561000	0.74099	TCC		0.627	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		8	58	0	0	0	1	0	8	58					T	88780614	C	T	88780614	1	4	37	0	1	0	0	0	0	0	0	0	4050	855	30	3		3	CTU2	16	88780614	IGR	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	10921386	88780614	1574139	274	3638										
PRPF8	10594	broad.mit.edu	37	chr17	1563262	1563262	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tgtctccttttgtactgtctCaatttccagtgcatcaagtt	6	10	3	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:1563262C>G	ENST00000572621.1	-	30	5084	c.4819G>C	c.(4819-4821)Gag>Cag	p.E1607Q	PRPF8_ENST00000304992.6_Missense_Mutation_p.E1607Q			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1607	Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTACTGTCTCAATTTCCAGT	0.403																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4819-4821)Gag>Cag		pre-mRNA processing factor 8							170	142	151					17																	1563262		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1563262C>G	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.4819G>C	17.37:g.1563262C>G	ENSP00000460348:p.Glu1607Gln		Somatic				PRPF8_ENST00000304992.6_Missense_Mutation_p.E1607Q	p.E1607Q			WXS	Illumina GAIIx	Phase_I	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	30	5084	-			1607					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.4819G>C	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	c	23.3	4.404045	0.83230	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.82433	-1.61	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.86690	0.5993	M	0.84948	2.725	0.80722	D	1	B	0.15930	0.015	B	0.18263	0.021	T	0.82319	-0.0516	10	0.56958	D	0.05	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1607	Q6P2Q9	PRP8_HUMAN	Q	1607;134	ENSP00000304350:E1607Q	ENSP00000304350:E1607Q	E	-	1	0	PRPF8	1510012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.738000	0.84966	2.882000	0.98803	0.655000	0.94253	GAG		0.403	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			6	73	0	0	0	1	0	6	73					G	1563262	C	G	1563262	3	3	37	1	0	0	0	0	1	0	0	0	12587	835	29	2	2240	2	PRPF8	17	1563262	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08		1563262	79631948	275	3639										
MNT	4335	broad.mit.edu	37	chr17	2303970	2303970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttgctgcgcttgccattccaGgaagcgggccgcctccagta	12	14	0	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:2303970G>A	ENST00000174618.4	-	1	442	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L	MNT_ENST00000575394.1_Silent_p.L13L	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	13					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)		TGCCATTCCAGGAAGCGGGCC	0.731																																						ENST00000174618.4																			0				endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(37-39)Ctg>Ttg		MAX network transcriptional repressor							15	18	17					17																	2303970		2194	4288	6482	SO:0001819	synonymous_variant	4335				multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr17:2303970G>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.37C>T	17.37:g.2303970G>A			Somatic					p.L13L	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)	1	442	-			13					A8K6D1|D3DTI7|Q1ED38	Silent	SNP	ENST00000174618.4	37	c.37C>T	CCDS11018.1																																																																																				0.731	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310		9	3	0	0	0	1	0	9	3					A	2303970	G	A	2303970	2	1	37	1	0	0	0	0	0	0	0	1	9687	991	35	3		3	MNT	17	2303970	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	740708	2303970	78891240	276	3640										
KIAA0753	9851	broad.mit.edu	37	chr17	6499537	6499537	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tgggctatccttgctgtcctCaacggtggctaaggtttcag	12	10	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:6499537C>A	ENST00000361413.3	-	15	2657	c.2299G>T	c.(2299-2301)Gag>Tag	p.E767*	KIAA0753_ENST00000542606.1_Nonsense_Mutation_p.E468*|KIAA0753_ENST00000589033.1_Nonsense_Mutation_p.E223*|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000572370.1_Nonsense_Mutation_p.E468*	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	767						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTGCTGTCCTCAACGGTGGCT	0.522																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(2299-2301)Gag>Tag		KIAA0753							135	134	134					17																	6499537		1973	4178	6151	SO:0001587	stop_gained	9851					centrosome		g.chr17:6499537C>A		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.2299G>T	17.37:g.6499537C>A	ENSP00000355250:p.Glu767*		Somatic				KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Nonsense_Mutation_p.E468*|KIAA0753_ENST00000589033.1_Nonsense_Mutation_p.E223*|KIAA0753_ENST00000572370.1_Nonsense_Mutation_p.E468*	p.E767*	NM_014804.2	NP_055619.2	WXS	Illumina GAIIx	Phase_I	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	15	2657	-			767					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Nonsense_Mutation	SNP	ENST00000361413.3	37	c.2299G>T	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	41	8.573315	0.98868	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	.	.	.	4.59	1.11	0.20524	.	0.861379	0.10588	N	0.657084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-2.1039	3.6281	0.08121	0.1676:0.5692:0.1637:0.0995	.	.	.	.	X	767;468;223	.	ENSP00000355250:E767X	E	-	1	0	KIAA0753	6440261	0.001000	0.12720	0.024000	0.17045	0.033000	0.12548	0.844000	0.27654	0.471000	0.27319	0.655000	0.94253	GAG		0.522	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		18	135	1	0	2.35188e-11	1	2.56408e-11	18	135					A	6499537	C	A	6499537	4	1	37	1	0	0	0	0	0	1	0	0	8200	835	29	2	624	2	KIAA0753	17	6499537	Nonsense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	4195567	6499537	74695673	277	3641										
KIAA0753	9851	broad.mit.edu	37	chr17	6502580	6502580	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctgtgcaggctgggctttcgCtgtgtttactgacgagccat	13	10	0	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:6502580C>G	ENST00000361413.3	-	14	2507	c.2149G>C	c.(2149-2151)Gcg>Ccg	p.A717P	RNA5SP435_ENST00000364044.1_RNA|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A418P|KIAA0753_ENST00000589033.1_Missense_Mutation_p.A173P|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000572370.1_Missense_Mutation_p.A418P	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	717						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TGGGCTTTCGCTGTGTTTACT	0.358																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(2149-2151)Gcg>Ccg		KIAA0753							98	96	97					17																	6502580		1984	4159	6143	SO:0001583	missense	9851					centrosome		g.chr17:6502580C>G		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.2149G>C	17.37:g.6502580C>G	ENSP00000355250:p.Ala717Pro		Somatic				KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A418P|KIAA0753_ENST00000589033.1_Missense_Mutation_p.A173P|KIAA0753_ENST00000572370.1_Missense_Mutation_p.A418P	p.A717P	NM_014804.2	NP_055619.2	WXS	Illumina GAIIx	Phase_I	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	14	2507	-			717					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.2149G>C	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267304	0.23136	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	T;T	0.11277	2.96;2.79	4.92	0.3	0.15776	.	1.445130	0.03814	N	0.266447	T	0.09113	0.0225	L	0.27053	0.805	0.09310	N	1	P	0.44195	0.828	B	0.41988	0.372	T	0.23762	-1.0179	10	0.48119	T	0.1	2.2757	4.249	0.10686	0.0:0.5442:0.1692:0.2866	.	717	Q2KHM9	K0753_HUMAN	P	717;418;173	ENSP00000355250:A717P;ENSP00000444634:A418P	ENSP00000355250:A717P	A	-	1	0	KIAA0753	6443304	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.208000	0.17415	0.329000	0.23460	-0.346000	0.07831	GCG		0.358	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		5	38	0	0	0	1	0	5	38					G	6502580	C	G	6502580	3	3	37	1	0	0	0	0	1	0	0	0	8200	797	28	5	778	5	KIAA0753	17	6502580	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	3043	6502580	74692630	278	3642										
KIAA0753	9851	broad.mit.edu	37	chr17	6502605	6502605	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tttactgacgagccatctttCaaatgaatatttgcttctgt	6	8	3	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:6502605C>G	ENST00000361413.3	-	14	2482	c.2124G>C	c.(2122-2124)ttG>ttC	p.L708F	RNA5SP435_ENST00000364044.1_RNA|KIAA0753_ENST00000542606.1_Missense_Mutation_p.L409F|KIAA0753_ENST00000589033.1_Missense_Mutation_p.L164F|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000572370.1_Missense_Mutation_p.L409F	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	708						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		AGCCATCTTTCAAATGAATAT	0.363																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(2122-2124)ttG>ttC		KIAA0753							92	87	89					17																	6502605		1925	4136	6061	SO:0001583	missense	9851					centrosome		g.chr17:6502605C>G		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.2124G>C	17.37:g.6502605C>G	ENSP00000355250:p.Leu708Phe		Somatic				KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Missense_Mutation_p.L409F|KIAA0753_ENST00000589033.1_Missense_Mutation_p.L164F|KIAA0753_ENST00000572370.1_Missense_Mutation_p.L409F	p.L708F	NM_014804.2	NP_055619.2	WXS	Illumina GAIIx	Phase_I	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	14	2482	-			708					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.2124G>C	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842969	0.32606	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	T;T	0.12255	2.86;2.7	4.98	2.92	0.33932	.	0.534254	0.18703	N	0.133539	T	0.14141	0.0342	M	0.64997	1.995	0.34954	D	0.75156	B	0.27679	0.185	B	0.26864	0.074	T	0.08617	-1.0713	10	0.54805	T	0.06	-0.115	6.5462	0.22406	0.1791:0.7262:0.0:0.0947	.	708	Q2KHM9	K0753_HUMAN	F	708;409;164	ENSP00000355250:L708F;ENSP00000444634:L409F	ENSP00000355250:L708F	L	-	3	2	KIAA0753	6443329	0.526000	0.26298	0.362000	0.25862	0.064000	0.16182	0.867000	0.27968	0.729000	0.32403	0.563000	0.77884	TTG		0.363	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		5	34	0	0	0	1	0	5	34					G	6502605	C	G	6502605	3	3	37	1	0	0	0	0	1	0	0	0	8200	825	29	2	803	2	KIAA0753	17	6502605	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	25	6502605	74692605	279	3643										
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		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.chr17:7577121G>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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	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	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	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.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	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;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	22	0	0	0	1	0	5	22					A	7577121	G	A	7577121	3	1	37	1	0	0	0	0	1	0	0	0	16396	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	1074516	7577121	73618089	280	3644										
TP53	7157	broad.mit.edu	37	chr17	7578534	7578534	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttggccagttggcaaaacatCttgttgagggcaggggagta	15	6	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:7578534C>A	ENST00000269305.4	-	5	585	c.396G>T	c.(394-396)aaG>aaT	p.K132N	TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.K132N	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	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAAAACATCTTGTTGAGGG	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"		77	Substitution - Missense(51)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Substitution - coding silent(1)	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1)	urinary_tract(13)|breast(10)|ovary(10)|lung(9)|large_intestine(8)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|adrenal_gland(3)|upper_aerodigestive_tract(2)|skin(2)|liver(2)|stomach(1)|penis(1)|oesophagus(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.(394-396)aaG>aaT	Other conserved DNA damage response genes	tumor protein p53							47	48	48					17																	7578534		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.chr17:7578534C>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.396G>T	17.37:g.7578534C>A	ENSP00000269305:p.Lys132Asn	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.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N	p.K132N	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	528	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	132		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.396G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186174	0.78789	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	3.5	0.40072	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.91768	3.24	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.993;0.996;0.999;0.998;1.0	D	0.97328	0.9948	10	0.87932	D	0	-14.0777	10.5581	0.45129	0.0:0.841:0.0:0.159	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132N;ENSP00000352610:K132N;ENSP00000269305:K132N;ENSP00000398846:K132N;ENSP00000391127:K132N;ENSP00000391478:K132N;ENSP00000423862:K39N;ENSP00000424104:K132N	ENSP00000269305:K132N	K	-	3	2	TP53	7519259	1.000000	0.71417	0.994000	0.49952	0.784000	0.44337	1.646000	0.37249	0.804000	0.34136	0.655000	0.94253	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	32	1	0	1.64293e-13	1	1.80019e-13	25	32					A	7578534	C	A	7578534	3	1	37	1	0	0	0	0	1	0	0	0	16396	912	32	2	902	2	TP53	17	7578534	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	1413	7578534	73616676	281	3645										
DNAH2	146754	broad.mit.edu	37	chr17	7660535	7660535	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctgcgtgaaaatctgctactCgttgctagagactacaatag	9	9	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:7660535C>T	ENST00000572933.1	+	13	3491	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	RPL29P2_ENST00000498671.1_RNA|DNAH2_ENST00000389173.2_Silent_p.L677L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	677	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)				ATCTGCTACTCGTTGCTAGAG	0.493																																						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.(2029-2031)ctC>ctT		dynein, axonemal, heavy chain 2							171	160	164					17																	7660535		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.chr17:7660535C>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.2031C>T	17.37:g.7660535C>T			Somatic				DNAH2_ENST00000389173.2_Silent_p.L677L	p.L677L			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			13	3491	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	677			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.2031C>T	CCDS32551.1																																																																																				0.493	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		27	227	0	0	0	1	0	27	227					T	7660535	C	T	7660535	2	4	37	1	0	0	0	0	0	0	0	1	4604	871	31	1		1	DNAH2	17	7660535	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	82001	7660535	73534675	282	3646										
KDM6B	23135	broad.mit.edu	37	chr17	7748879	7748879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ccaactcaggctggatgcatCgggcagtggaccctccaggg	14	13	1	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:7748879C>T	ENST00000448097.2	+	4	338	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	KDM6B_ENST00000254846.5_Missense_Mutation_p.R3W			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	3					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						CTGGATGCATCGGGCAGTGGA	0.637																																						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.(7-9)Cgg>Tgg		lysine (K)-specific demethylase 6B							52	56	55					17																	7748879		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.chr17:7748879C>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.7C>T	17.37:g.7748879C>T	ENSP00000412513:p.Arg3Trp		Somatic				KDM6B_ENST00000448097.2_Missense_Mutation_p.R3W	p.R3W	NM_001080424.1	NP_001073893.1	WXS	Illumina GAIIx	Phase_I	O15054	KDM6B_HUMAN			4	396	+			3					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.7C>T		.	.	.	.	.	.	.	.	.	.	C	17.44	3.391363	0.62066	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.35605	1.3;1.3	4.25	4.25	0.50352	.	0.000000	0.49916	D	0.000138	T	0.42086	0.1187	N	0.14661	0.345	0.51482	D	0.999921	D	0.89917	1.0	D	0.72338	0.977	T	0.49679	-0.8914	10	0.87932	D	0	-15.7425	14.5399	0.67984	0.0:1.0:0.0:0.0	.	3	O15054-1	.	W	3	ENSP00000254846:R3W;ENSP00000412513:R3W	ENSP00000254846:R3W	R	+	1	2	KDM6B	7689604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.111000	0.71541	2.384000	0.81235	0.542000	0.68232	CGG		0.637	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		10	108	0	0	0	1	0	10	108					T	7748879	C	T	7748879	3	4	37	1	0	0	0	0	1	0	0	0	8147	875	31	1	9	1	KDM6B	17	7748879	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	88344	7748879	73446331	283	3647										
MYH4	4622	broad.mit.edu	37	chr17	10363565	10363565	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	acgaactcattgccgaccttGactctgggatagcagagaga	11	10	2	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:10363565G>C	ENST00000255381.2	-	13	1331	c.1221C>G	c.(1219-1221)gtC>gtG	p.V407V	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	407	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)	p.V407V(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						TGCCGACCTTGACTCTGGGAT	0.453																																						ENST00000255381.2																			1	Substitution - coding silent(1)	p.V407V(1)	lung(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.(1219-1221)gtC>gtG		myosin, heavy chain 4, skeletal muscle							119	107	111					17																	10363565		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.chr17:10363565G>C		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.1221C>G	17.37:g.10363565G>C			Somatic				CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.V407V	NM_017533.2	NP_060003.2	WXS	Illumina GAIIx	Phase_I	Q9Y623	MYH4_HUMAN			13	1331	-			407			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.1221C>G	CCDS11154.1																																																																																				0.453	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		5	80	0	0	0	1	0	5	80					C	10363565	G	C	10363565	2	2	37	1	0	0	0	0	0	0	0	1	10046	1277	45	2		2	MYH4	17	10363565	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	2614686	10363565	70831645	284	3648										
FAM18B	51030	broad.mit.edu	37	chr17	18692746	18692746	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	agaccaagaaaagccaaaatCaggtaggaggagagaagttg	13	5	1	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:18692746C>G	ENST00000307767.8	+	2	392	c.93C>G	c.(91-93)atC>atG	p.I31M	TVP23B_ENST00000574226.1_Missense_Mutation_p.I31M|TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000476139.1_5'UTR	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	31						integral component of membrane (GO:0016021)											AAGCCAAAATCAGGTAGGAGG	0.428																																						ENST00000307767.8																			0											c.(91-93)atC>atG		trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)							304	264	278					17																	18692746		2203	4300	6503	SO:0001583	missense	51030							g.chr17:18692746C>G	AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B", "family with sequence similarity 18, member B1"	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.93C>G	17.37:g.18692746C>G	ENSP00000305654:p.Ile31Met		Somatic				TVP23B_ENST00000476139.1_5'UTR|TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000574226.1_Missense_Mutation_p.I31M	p.I31M	NM_016078.4	NP_057162.4	WXS	Illumina GAIIx	Phase_I					2	392	+								A8K448|Q96HK5|Q9Y3E6	Missense_Mutation	SNP	ENST00000307767.8	37	c.93C>G	CCDS42274.1	.	.	.	.	.	.	.	.	.	.	C	7.178	0.588966	0.13812	.	.	ENSG00000171928	ENST00000307767	T	0.43294	0.95	2.56	2.56	0.30785	.	0.051917	0.64402	D	0.000001	T	0.49898	0.1584	M	0.88512	2.96	0.80722	D	1	B	0.34349	0.45	B	0.41666	0.363	T	0.50415	-0.8831	10	0.35671	T	0.21	-13.1468	6.7254	0.23353	0.2808:0.7191:0.0:0.0	.	31	Q9NYZ1	F18B1_HUMAN	M	31	ENSP00000305654:I31M	ENSP00000305654:I31M	I	+	3	3	FAM18B1	18633471	1.000000	0.71417	0.979000	0.43373	0.425000	0.31504	1.489000	0.35562	1.448000	0.47680	0.194000	0.17425	ATC		0.428	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078		5	75	0	0	0	1	0	5	75					G	18692746	C	G	18692746	3	3	37	1	0	0	0	0	1	0	0	0	5524	816	29	2	99	2	FAM18B	17	18692746	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	8329181	18692746	62502464	285	3649										
UNC119	9094	broad.mit.edu	37	chr17	26874818	26874818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gttgcggaagtagtgcctctCgatcatgcggaagttgttga	14	7	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:26874818C>T	ENST00000335765.4	-	4	597	c.487G>A	c.(487-489)Gag>Aag	p.E163K	UNC119_ENST00000301032.4_Missense_Mutation_p.E163K|UNC119_ENST00000470125.1_Missense_Mutation_p.E68K|UNC119_ENST00000484980.1_Missense_Mutation_p.E68K	NM_005148.3	NP_005139.1	Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	163	Required for centrosome localization.				cytokinesis, completion of separation (GO:0007109)|endocytosis (GO:0006897)|lipoprotein transport (GO:0042953)|negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of clathrin-mediated endocytosis (GO:1900186)|phototransduction (GO:0007602)|positive regulation of protein tyrosine kinase activity (GO:0061098)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	lipid binding (GO:0008289)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					TAGTGCCTCTCGATCATGCGG	0.517											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000484980.1																			0				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7						c.(202-204)Gag>Aag		unc-119 homolog (C. elegans)							180	163	169					17																	26874818		2203	4300	6503	SO:0001583	missense	9094				phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction		g.chr17:26874818C>T	U40998	CCDS11233.1, CCDS11234.1	17q11.2	2014-09-17	2001-11-28		ENSG00000109103	ENSG00000109103			12565	protein-coding gene	gene with protein product	"POC7 centriolar protein homolog A (Chlamydomonas)"	604011	"unc119 (C.elegans) homolog"			8576185, 9538874	Standard	NM_005148		Approved	HRG4, POC7, POC7A	uc002hbk.2	Q13432	OTTHUMG00000132606	ENST00000335765.4:c.487G>A	17.37:g.26874818C>T	ENSP00000337040:p.Glu163Lys		Somatic	OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	UNC119_ENST00000335765.4_Missense_Mutation_p.E163K|UNC119_ENST00000470125.1_Missense_Mutation_p.E68K|UNC119_ENST00000301032.4_Missense_Mutation_p.E163K	p.E68K			WXS	Illumina GAIIx	Phase_I	Q13432	U119A_HUMAN			3	3363	-	Lung NSC(42;0.00431)		163					A8K8G4|F1T095|O95126	Missense_Mutation	SNP	ENST00000335765.4	37	c.202G>A	CCDS11233.1	.	.	.	.	.	.	.	.	.	.	C	36	5.763198	0.96906	.	.	ENSG00000109103	ENST00000335765;ENST00000301032;ENST00000444148	D;D;D	0.84442	-1.66;-1.78;-1.85	5.81	5.81	0.92471	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	D	0.95379	0.8500	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96175	0.9126	10	0.87932	D	0	-31.1944	20.0787	0.97763	0.0:1.0:0.0:0.0	.	163;163	F1T095;Q13432	.;U119A_HUMAN	K	163;163;156	ENSP00000337040:E163K;ENSP00000301032:E163K;ENSP00000414639:E156K	ENSP00000301032:E163K	E	-	1	0	UNC119	23898945	1.000000	0.71417	0.975000	0.42487	0.978000	0.69477	7.818000	0.86416	2.757000	0.94681	0.462000	0.41574	GAG		0.517	UNC119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255842.2			17	119	0	0	0	1	0	17	119					T	26874818	C	T	26874818	3	4	37	1	0	0	0	0	1	0	0	0	16997	893	31	1	296	1	UNC119	17	26874818	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	8182072	26874818	54320392	286	3650										
SGK494	9703	broad.mit.edu	37	chr17	26939325	26939325	+	IGR	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aaagagacggatggaagcctCaggaaagcagccaacagccg	13	10	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:26939325C>G	ENST00000528896.2	-	0	7407				SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.6_ENST00000579019.2_RNA|RP11-192H23.4_ENST00000577790.1_Intron|SPAG5-AS1_ENST00000414744.1_RNA|SGK494_ENST00000469832.3_5'Flank|RP11-192H23.4_ENST00000534850.1_Intron|SPAG5-AS1_ENST00000424210.1_RNA|SGK494_ENST00000301037.5_Missense_Mutation_p.E203Q	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ATGGAAGCCTCAGGAAAGCAG	0.498																																						ENST00000301037.5																			0											c.(607-609)Gag>Cag									67	59	62					17																	26939325		2203	4300	6503	SO:0001628	intergenic_variant	0							g.chr17:26939325C>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26939325C>G			Somatic				SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000534850.1_Intron|RP11-192H23.4_ENST00000577790.1_Intron|SPAG5-AS1_ENST00000554154.1_RNA	p.E203Q	NM_001174103.1	NP_001167574.1	WXS	Illumina GAIIx	Phase_I					6	606	-								A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.607G>C	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622493	0.87460	.	.	ENSG00000167524	ENST00000301037	T	0.10860	2.83	5.83	5.83	0.93111	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.197823	0.42294	D	0.000724	T	0.33440	0.0863	M	0.63208	1.945	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.00523	-1.1690	10	0.62326	D	0.03	-12.912	19.1034	0.93283	0.0:1.0:0.0:0.0	.	203	Q96LW2	SG494_HUMAN	Q	203	ENSP00000301037:E203Q	ENSP00000301037:E203Q	E	-	1	0	AC005726.6	23963452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.065000	0.64344	2.750000	0.94351	0.655000	0.94253	GAG		0.498	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		7	62	0	0	0	1	0	7	62					G	26939325	C	G	26939325	1	3	37	0	1	0	0	0	0	0	0	0	14228	835	29	2		2	SGK494	17	26939325	IGR	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	64507	26939325	54255885	287	3651										
PEX12	5193	broad.mit.edu	37	chr17	33904942	33904942	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	acatgctgaagagcgggtctCactgctgtcattaaactgtc	10	10	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:33904942C>T	ENST00000225873.4	-	1	706	c.99G>A	c.(97-99)gtG>gtA	p.V33V		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	33					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)		GAGCGGGTCTCACTGCTGTCA	0.463																																						ENST00000225873.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18						c.(97-99)gtG>gtA		peroxisomal biogenesis factor 12							131	123	126					17																	33904942		2203	4300	6503	SO:0001819	synonymous_variant	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33904942C>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.99G>A	17.37:g.33904942C>T			Somatic					p.V33V	NM_000286.2	NP_000277.1	WXS	Illumina GAIIx	Phase_I	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	706	-			33					B2R6M2	Silent	SNP	ENST00000225873.4	37	c.99G>A	CCDS11296.1																																																																																				0.463	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		11	83	0	0	0	1	0	11	83					T	33904942	C	T	33904942	2	4	37	1	0	0	0	0	0	0	0	1	11749	813	29	3		3	PEX12	17	33904942	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	6965617	33904942	47290268	288	3652										
ACACA	31	broad.mit.edu	37	chr17	35640260	35640260	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cataagaccacctacggataGaccgcatgcatttcactgct	7	13	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:35640260G>C	ENST00000394406.2	-	5	597	c.407C>G	c.(406-408)tCt>tGt	p.S136C	ACACA_ENST00000353139.5_Missense_Mutation_p.S173C|ACACA_ENST00000335166.5_Missense_Mutation_p.S58C|ACACA_ENST00000360679.3_Missense_Mutation_p.S78C	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	136	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTACGGATAGACCGCATGCA	0.438																																					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.(517-519)tCt>tGt		acetyl-CoA carboxylase alpha	Biotin(DB00121)						132	107	116					17																	35640260		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.chr17:35640260G>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.407C>G	17.37:g.35640260G>C	ENSP00000377928:p.Ser136Cys		Somatic				ACACA_ENST00000394406.2_Missense_Mutation_p.S136C|ACACA_ENST00000360679.3_Missense_Mutation_p.S78C|ACACA_ENST00000335166.5_Missense_Mutation_p.S58C	p.S173C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	WXS	Illumina GAIIx	Phase_I	Q13085	ACACA_HUMAN			5	999	-		Breast(25;0.00157)|Ovarian(249;0.15)	136			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.518C>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	33	5.243596	0.95272	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.84	5.84	0.93424	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91092	0.7196	H	0.95712	3.71	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	0.92918	0.6353	10	0.87932	D	0	-16.2366	20.1535	0.98095	0.0:0.0:1.0:0.0	.	173;136;78	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	C	173;78;136;160;58;58	ENSP00000344789:S173C;ENSP00000353898:S78C;ENSP00000377928:S136C;ENSP00000335323:S58C	ENSP00000335323:S58C	S	-	2	0	ACACA	32714373	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	9.813000	0.99286	2.764000	0.94973	0.650000	0.86243	TCT		0.438	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		7	57	0	0	0	1	0	7	57					C	35640260	G	C	35640260	3	2	37	1	0	0	0	0	1	0	0	0	106	942	33	2	6841	2	ACACA	17	35640260	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	1735318	35640260	45554950	289	3653										
EIF1	10209	broad.mit.edu	37	chr17	39846029	39846029	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gagcttaaccttttttttcaGacccctttgctgatgcaagt	7	10	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:39846029G>C	ENST00000469257.1	+	2	177		c.e2-1		EIF1_ENST00000310837.4_Intron|JUP_ENST00000540235.1_Intron|EIF1_ENST00000591776.1_Splice_Site			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1						dosage compensation by inactivation of X chromosome (GO:0009048)|regulation of translational initiation (GO:0006446)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTTTTTTTCAGACCCCTTTGC	0.483											OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(176;1692 2837 16734 17588)	ENST00000469257.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5						c.e2-1		eukaryotic translation initiation factor 1							46	45	45					17																	39846029		2202	4300	6502	SO:0001630	splice_region_variant	10209				regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity	g.chr17:39846029G>C	AF083441	CCDS11403.1	17q21.2	2006-02-02			ENSG00000173812	ENSG00000173812			3249	protein-coding gene	gene with protein product						7904817, 10347211	Standard	NM_005801		Approved	EIF-1, ISO1, A121, SUI1, EIF1A	uc002hxj.3	P41567	OTTHUMG00000133492	ENST00000469257.1:c.32-1G>C	17.37:g.39846029G>C			Somatic	OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	JUP_ENST00000540235.1_Intron|EIF1_ENST00000591776.1_Splice_Site|EIF1_ENST00000310837.4_Intron				WXS	Illumina GAIIx	Phase_I	P41567	EIF1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		2	177	+		Breast(137;0.000307)						Q9UNQ9	Splice_Site	SNP	ENST00000469257.1	37		CCDS11403.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698695	0.68501	.	.	ENSG00000173812	ENST00000469257	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8739	0.92327	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF1	37099555	1.000000	0.71417	0.997000	0.53966	0.692000	0.40212	9.581000	0.98210	2.690000	0.91761	0.462000	0.41574	.		0.483	EIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257390.1	NM_005801	Intron	5	55	0	0	0	1	0	5	55					C	39846029	G	C	39846029	5	2	37	1	0	0	0	0	0	0	1	0	4992	956	33	2	37	2	EIF1	17	39846029	Splice_Site	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	4205769	39846029	41349181	290	3654										
NAGLU	4669	broad.mit.edu	37	chr17	40695097	40695097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctggctcttccagcaccagcCgcagttctgggggcccgccc	12	18	2	0	rs368687817		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:40695097C>T	ENST00000225927.2	+	6	1174	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	358			P -> L (in MPS3B). {ECO:0000269|PubMed:9443878}.		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)	CAGCACCAGCCGCAGTTCTGG	0.617													C|||	1	0.000199681	0	0.0014	5008	,	,		16768	0		0	False		,,,				2504	0					ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12	GRCh37	CM981362	NAGLU	M		c.(1072-1074)cCg>cTg		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)	C	LEU/PRO	0,4396		0,0,2198	55	65	62		1073	3.7	0.8	17		62	1,8561		0,1,4280	no	missense	NAGLU	NM_000263.3	98	0,1,6478	TT,TC,CC		0.0117,0.0,0.0077	possibly-damaging	358/744	40695097	1,12957	2198	4281	6479	SO:0001583	missense	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40695097C>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.1073C>T	17.37:g.40695097C>T	ENSP00000225927:p.Pro358Leu		Somatic				RP11-400F19.8_ENST00000585572.1_RNA	p.P358L	NM_000263.3	NP_000254.2	WXS	Illumina GAIIx	Phase_I	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	6	1174	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	358		P -> L (in MPS3B).				Missense_Mutation	SNP	ENST00000225927.2	37	c.1073C>T	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151829	0.78001	0.0	1.17E-4	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.97731	-4.51	4.7	3.72	0.42706	Alpha-N-acetylglucosaminidase, tim-barrel domain (1);	0.191050	0.45867	D	0.000339	D	0.98273	0.9428	M	0.84326	2.69	0.80722	D	1	D	0.69078	0.997	P	0.60415	0.874	D	0.98360	1.0548	10	0.54805	T	0.06	-20.8594	13.6681	0.62407	0.0:0.8434:0.1566:0.0	.	358	P54802	ANAG_HUMAN	L	358;34	ENSP00000225927:P358L	ENSP00000225927:P358L	P	+	2	0	NAGLU	37948623	0.997000	0.39634	0.839000	0.33178	0.867000	0.49689	3.670000	0.54569	1.189000	0.43028	0.491000	0.48974	CCG		0.617	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		19	165	0	0	0	1	0	19	165					T	40695097	C	T	40695097	3	4	37	1	0	0	0	0	1	0	0	0	10152	652	23	1	1095	1	NAGLU	17	40695097	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	849068	40695097	40500113	291	3655										
TMUB2	79089	broad.mit.edu	37	chr17	42266526	42266526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tagcttggctctctacctacGtagcagacagcggtagcaac	10	12	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:42266526G>A	ENST00000587989.1	+	3	325	c.172G>A	c.(172-174)Gta>Ata	p.V58I	ASB16-AS1_ENST00000592897.1_RNA|TMUB2_ENST00000590235.1_Missense_Mutation_p.V38I|ASB16-AS1_ENST00000591166.1_RNA|TMUB2_ENST00000357984.3_Missense_Mutation_p.V38I|ASB16-AS1_ENST00000585457.1_RNA|TMUB2_ENST00000589785.1_Missense_Mutation_p.V38I|TMUB2_ENST00000446571.3_Missense_Mutation_p.V38I|TMUB2_ENST00000592825.1_Missense_Mutation_p.V38I|TMUB2_ENST00000587172.1_Missense_Mutation_p.V38I|TMUB2_ENST00000589856.1_Missense_Mutation_p.V38I|TMUB2_ENST00000319511.6_Missense_Mutation_p.V38I|ASB16-AS1_ENST00000588785.1_RNA|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000538716.2_Missense_Mutation_p.V58I			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	58						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTCTACCTACGTAGCAGACAG	0.587																																						ENST00000319511.6																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8						c.(112-114)Gta>Ata		transmembrane and ubiquitin-like domain containing 2							125	109	115					17																	42266526		2203	4300	6503	SO:0001583	missense	79089					integral to membrane		g.chr17:42266526G>A		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.172G>A	17.37:g.42266526G>A	ENSP00000466971:p.Val58Ile		Somatic				TMUB2_ENST00000587989.1_Missense_Mutation_p.V58I|TMUB2_ENST00000357984.3_Missense_Mutation_p.V38I|TMUB2_ENST00000592825.1_Missense_Mutation_p.V38I|TMUB2_ENST00000446571.3_Missense_Mutation_p.V38I|TMUB2_ENST00000590235.1_Missense_Mutation_p.V38I|TMUB2_ENST00000589785.1_Missense_Mutation_p.V38I|TMUB2_ENST00000589856.1_Missense_Mutation_p.V38I|TMUB2_ENST00000538716.2_Missense_Mutation_p.V58I|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000587172.1_Missense_Mutation_p.V38I	p.V38I	NM_177441.2	NP_803190.2	WXS	Illumina GAIIx	Phase_I	Q71RG4	TMUB2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	2	762	+		Breast(137;0.00765)|Prostate(33;0.0181)	58					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	c.112G>A	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357144	0.82243	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.56776	0.63;0.48;0.44;0.48	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	L	0.41236	1.265	0.54753	D	0.999989	D;D;D;D	0.89917	0.996;0.999;0.998;1.0	P;D;P;D	0.76575	0.474;0.948;0.856;0.988	T	0.64377	-0.6422	10	0.42905	T	0.14	.	16.9385	0.86209	0.0:0.0:1.0:0.0	.	38;38;38;58	E7ESS3;Q71RG4-3;Q71RG4-4;Q71RG4	.;.;.;TMUB2_HUMAN	I	38;38;58;38	ENSP00000413127:V38I;ENSP00000350672:V38I;ENSP00000444565:V58I;ENSP00000313214:V38I	ENSP00000313214:V38I	V	+	1	0	TMUB2	39622052	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.288000	0.72679	2.252000	0.74401	0.561000	0.74099	GTA		0.587	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		16	133	0	0	0	1	0	16	133					A	42266526	G	A	42266526	3	1	37	1	0	0	0	0	1	0	0	0	16280	1145	40	1	178	1	TMUB2	17	42266526	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	1571429	42266526	38928684	292	3656										
GRN	2896	broad.mit.edu	37	chr17	42429011	42429011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aacaggggccccaccaggtgCcctggatggagaaggcccca	14	14	0	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:42429011C>T	ENST00000053867.3	+	10	1089	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	GRN_ENST00000589923.1_3'UTR|GRN_ENST00000589265.1_Missense_Mutation_p.P186S	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	343					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCACCAGGTGCCCTGGATGGA	0.607																																						ENST00000053867.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1027-1029)Ccc>Tcc		granulin							75	75	75					17																	42429011		2203	4300	6503	SO:0001583	missense	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42429011C>T	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"progranulin"	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.1027C>T	17.37:g.42429011C>T	ENSP00000053867:p.Pro343Ser		Somatic				GRN_ENST00000589265.1_Missense_Mutation_p.P186S|GRN_ENST00000589923.1_3'UTR	p.P343S	NM_002087.2	NP_002078.1	WXS	Illumina GAIIx	Phase_I	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	10	1089	+		Prostate(33;0.0181)	343					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	37	c.1027C>T	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615286	0.28801	.	.	ENSG00000030582	ENST00000053867;ENST00000357351;ENST00000393566	T	0.72835	-0.69	5.4	3.34	0.38264	.	0.082270	0.51477	N	0.000093	T	0.64897	0.2640	L	0.48642	1.525	0.40172	D	0.977183	B;B	0.20261	0.037;0.043	B;B	0.29524	0.023;0.103	T	0.58440	-0.7636	10	0.45353	T	0.12	-18.1847	11.6466	0.51265	0.0:0.7976:0.1265:0.0759	.	280;343	B4DJI2;P28799	.;GRN_HUMAN	S	343;343;163	ENSP00000053867:P343S	ENSP00000053867:P343S	P	+	1	0	GRN	39784537	0.956000	0.32656	0.954000	0.39281	0.125000	0.20455	2.872000	0.48467	0.244000	0.21351	-1.134000	0.01955	CCC		0.607	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		34	67	0	0	0	1	0	34	67					T	42429011	C	T	42429011	3	4	37	1	0	0	0	0	1	0	0	0	6813	739	26	3	1061	3	GRN	17	42429011	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	162485	42429011	38766199	293	3657										
CDK5RAP3	80279	broad.mit.edu	37	chr17	46053347	46053347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tggtggaacgaccccacctcGaggagcttcctgagcaggtg	14	12	0	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:46053347G>A	ENST00000338399.4	+	8	872	c.766G>A	c.(766-768)Gag>Aag	p.E256K	CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.E281K|RP11-6N17.9_ENST00000582262.1_RNA	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	256					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						ACCCCACCTCGAGGAGCTTCC	0.607																																						ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.(841-843)Gag>Aag		CDK5 regulatory subunit associated protein 3							54	55	55					17																	46053347		2085	4200	6285	SO:0001583	missense	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46053347G>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.766G>A	17.37:g.46053347G>A	ENSP00000344683:p.Glu256Lys		Somatic				CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.E256K	p.E281K	NM_001278197.1	NP_001265126.1	WXS	Illumina GAIIx	Phase_I	Q96JB5	CK5P3_HUMAN			8	950	+			256					B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	ENST00000338399.4	37	c.841G>A	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595426	0.46318	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.42131	0.98;0.98	5.19	5.19	0.71726	.	0.111665	0.64402	D	0.000015	T	0.31167	0.0788	L	0.43646	1.37	0.80722	D	1	P;P;P;P	0.49862	0.659;0.521;0.707;0.929	B;B;B;B	0.33750	0.169;0.118;0.16;0.118	T	0.15578	-1.0432	10	0.15952	T	0.53	-22.8526	17.84	0.88712	0.0:0.0:1.0:0.0	.	281;169;256;31	F5H3I5;Q96JB5-2;Q96JB5;Q96JB5-3	.;.;CK5P3_HUMAN;.	K	281;256	ENSP00000438886:E281K;ENSP00000344683:E256K	ENSP00000344683:E256K	E	+	1	0	CDK5RAP3	43408346	1.000000	0.71417	0.254000	0.24359	0.277000	0.26821	5.092000	0.64511	2.571000	0.86741	0.655000	0.94253	GAG		0.607	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096		10	70	0	0	0	1	0	10	70					A	46053347	G	A	46053347	3	1	37	1	0	0	0	0	1	0	0	0	3149	1059	37	1	796	1	CDK5RAP3	17	46053347	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	3624336	46053347	35141863	294	3658										
MYST2	11143	broad.mit.edu	37	chr17	47874127	47874127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	atcagattccagtcctgttcGaaatctgcagtcttttggca	8	10	3	1	rs375311893		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:47874127G>A	ENST00000259021.4	+	3	459	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	KAT7_ENST00000509773.1_Missense_Mutation_p.R60Q|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000435742.2_5'UTR|KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000424009.2_Missense_Mutation_p.R60Q	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	60					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AGTCCTGTTCGAAATCTGCAG	0.408																																						ENST00000259021.4																			0											c.(178-180)cGa>cAa		K(lysine) acetyltransferase 7		G	GLN/ARG,,GLN/ARG,,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	86	91	90		179,,179,,179	5.9	1	17		90	0,8600		0,0,4300	no	missense,intron,missense,intron,missense	KAT7	NM_001199155.1,NM_001199156.1,NM_001199157.1,NM_001199158.1,NM_007067.4	43,,43,,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,,benign,,benign	60/582,,60/502,,60/612	47874127	1,13005	2203	4300	6503	SO:0001583	missense	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47874127G>A	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17016	protein-coding gene	gene with protein product	"histone acetyltransferase binding to ORC1"	609880	"MYST histone acetyltransferase 2"	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.179G>A	17.37:g.47874127G>A	ENSP00000259021:p.Arg60Gln		Somatic				KAT7_ENST00000424009.2_Missense_Mutation_p.R60Q|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000509773.1_Missense_Mutation_p.R60Q|KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000435742.2_5'UTR	p.R60Q	NM_007067.4	NP_008998.1	WXS	Illumina GAIIx	Phase_I	O95251	MYST2_HUMAN			3	459	+			60					B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	c.179G>A	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180913	0.78677	2.27E-4	0.0	ENSG00000136504	ENST00000259021;ENST00000509773;ENST00000424009	.	.	.	5.93	5.93	0.95920	.	0.133899	0.50627	D	0.000104	T	0.60689	0.2288	N	0.16478	0.41	0.80722	D	1	D;B;D	0.69078	0.994;0.002;0.997	P;B;D	0.66847	0.885;0.0;0.947	T	0.53151	-0.8479	9	0.12430	T	0.62	-7.6213	19.9388	0.97151	0.0:0.0:1.0:0.0	.	60;60;60	B4DFB4;O95251;G5E9K7	.;KAT7_HUMAN;.	Q	60	.	ENSP00000259021:R60Q	R	+	2	0	KAT7	45229126	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.176000	0.58269	2.815000	0.96918	0.561000	0.74099	CGA		0.408	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		15	146	0	0	0	1	0	15	146					A	47874127	G	A	47874127	3	1	37	1	0	0	0	0	1	0	0	0	10112	1058	37	1	189	1	MYST2	17	47874127	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	1820780	47874127	33321083	295	3659										
RNF43	54894	broad.mit.edu	37	chr17	56492817	56492817	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	taatagctttctgttctgctGatctttcagactccaccgct	6	12	4	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:56492817G>A	ENST00000584437.1	-	1	2077	c.122C>T	c.(121-123)tCa>tTa	p.S41L	RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Missense_Mutation_p.S41L|RNF43_ENST00000577716.1_Missense_Mutation_p.S41L|RNF43_ENST00000407977.2_Missense_Mutation_p.S41L|RNF43_ENST00000580014.1_5'Flank|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Missense_Mutation_p.S41L			Q68DV7	RNF43_HUMAN	ring finger protein 43	41					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S41*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTTCTGCTGATCTTTCAGA	0.537																																						ENST00000584437.1																			1	Substitution - Nonsense(1)	p.S41*(1)	pancreas(1)	NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(121-123)tCa>tTa		ring finger protein 43							91	83	86					17																	56492817		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56492817G>A		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.122C>T	17.37:g.56492817G>A	ENSP00000463069:p.Ser41Leu		Somatic				BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Missense_Mutation_p.S41L|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000577716.1_Missense_Mutation_p.S41L|RNF43_ENST00000500597.2_Missense_Mutation_p.S41L|RNF43_ENST00000407977.2_Missense_Mutation_p.S41L	p.S41L			WXS	Illumina GAIIx	Phase_I	Q68DV7	RNF43_HUMAN			1	2077	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		41					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.122C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136378	0.56936	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.12255	3.23;2.7	5.49	5.49	0.81192	.	0.148709	0.31709	N	0.007188	T	0.07234	0.0183	N	0.03608	-0.345	0.36410	D	0.863684	P;P	0.38827	0.649;0.518	B;B	0.36666	0.23;0.115	T	0.45293	-0.9271	10	0.25106	T	0.35	-22.4765	16.8952	0.86098	0.0:0.0:1.0:0.0	.	41;41	Q68DV7-2;Q68DV7	.;RNF43_HUMAN	L	41	ENSP00000385328:S41L;ENSP00000441969:S41L	ENSP00000385328:S41L	S	-	2	0	RNF43	53847816	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.252000	0.58785	2.734000	0.93682	0.655000	0.94253	TCA		0.537	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		6	75	0	0	0	1	0	6	75					A	56492817	G	A	56492817	3	1	37	1	0	0	0	0	1	0	0	0	13510	1294	45	3	2265	3	RNF43	17	56492817	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	8618690	56492817	24702393	296	3660										
TEX2	55852	broad.mit.edu	37	chr17	62291464	62291464	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tcctcctcgccggatgccgaGaagtgaatggcgatggtatc	13	11	0	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:62291464G>A	ENST00000583097.1	-	2	286	c.114C>T	c.(112-114)ttC>ttT	p.F38F	TEX2_ENST00000258991.3_Silent_p.F38F|TEX2_ENST00000584379.1_Silent_p.F38F			Q8IWB9	TEX2_HUMAN	testis expressed 2	38					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CGGATGCCGAGAAGTGAATGG	0.562																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(112-114)ttC>ttT		testis expressed 2							109	99	103					17																	62291464		2203	4300	6503	SO:0001819	synonymous_variant	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291464G>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.114C>T	17.37:g.62291464G>A			Somatic				TEX2_ENST00000583097.1_Silent_p.F38F|TEX2_ENST00000584379.1_Silent_p.F38F	p.F38F			WXS	Illumina GAIIx	Phase_I	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	198	-			38					Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37	c.114C>T																																																																																					0.562	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		10	84	0	0	0	1	0	10	84					A	62291464	G	A	62291464	2	1	37	1	0	0	0	0	0	0	0	1	15796	933	33	3		3	TEX2	17	62291464	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	5798647	62291464	18903746	297	3661										
PRKAR1A	5573	broad.mit.edu	37	chr17	66526119	66526119	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	agagtttgttgaagtgggaaGattggggccttctgattatt	14	3	1	4			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:66526119G>T	ENST00000589228.1	+	10	1078	c.950G>T	c.(949-951)aGa>aTa	p.R317I	PRKAR1A_ENST00000358598.2_Missense_Mutation_p.R317I|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.R317I|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.R317I|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.R317I|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.R317I	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	317					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)					GAAGTGGGAAGATTGGGGCCT	0.383			"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.(949-951)aGa>aTa		protein kinase, cAMP-dependent, regulatory, type I, alpha							225	232	230					17																	66526119		2203	4300	6503	SO:0001583	missense	5573	Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66526119G>T		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.950G>T	17.37:g.66526119G>T	ENSP00000464977:p.Arg317Ile		Somatic				PRKAR1A_ENST00000586397.1_Missense_Mutation_p.R317I|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.R317I|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.R317I|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.R317I|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.R317I	p.R317I	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	WXS	Illumina GAIIx	Phase_I	P10644	KAP0_HUMAN			10	1078	+	Breast(10;1.64e-13)		317					K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	c.950G>T	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	G	36	5.620383	0.96660	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.92397	-3.03;-3.03;-3.03	5.99	5.99	0.97316	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.046388	0.85682	D	0.000000	D	0.88142	0.6357	N	0.25992	0.78	0.80722	D	1	P;P	0.35192	0.489;0.489	B;B	0.32533	0.147;0.147	D	0.87155	0.2211	10	0.59425	D	0.04	-24.6879	20.4574	0.99148	0.0:0.0:1.0:0.0	.	317;317	B2R5T5;P10644	.;KAP0_HUMAN	I	317	ENSP00000351410:R317I;ENSP00000376475:R317I;ENSP00000445625:R317I	ENSP00000351410:R317I	R	+	2	0	PRKAR1A	64037714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.230000	0.95299	2.843000	0.97960	0.591000	0.81541	AGA		0.383	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			11	88	1	0	2.27111e-07	1	2.4214e-07	11	88					T	66526119	G	T	66526119	3	4	37	1	0	0	0	0	1	0	0	0	12515	942	33	2	984	2	PRKAR1A	17	66526119	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	4234655	66526119	14669091	298	3662										
MRPS7	51081	broad.mit.edu	37	chr17	73259478	73259478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	accatgccgcttctgcagagGaacaggcaaccatcgaacgc	10	14	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:73259478G>A	ENST00000245539.6	+	4	624	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	GGA3_ENST00000538886.1_5'Flank|GGA3_ENST00000582486.1_5'Flank|MRPS7_ENST00000579761.1_Missense_Mutation_p.E133K|GGA3_ENST00000351904.7_5'Flank|GGA3_ENST00000579743.1_5'Flank|MRPS7_ENST00000579002.1_Missense_Mutation_p.E162K|GGA3_ENST00000578348.1_5'Flank|GGA3_ENST00000582717.1_5'Flank|GGA3_ENST00000245541.6_5'Flank|GGA3_ENST00000537686.1_5'Flank	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	133					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TTCTGCAGAGGAACAGGCAAC	0.522																																						ENST00000579761.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6						c.(397-399)Gaa>Aaa		mitochondrial ribosomal protein S7							255	242	247					17																	73259478		2203	4300	6503	SO:0001583	missense	51081				translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	g.chr17:73259478G>A	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"Mitochondrial ribosomal proteins / small subunits"	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.397G>A	17.37:g.73259478G>A	ENSP00000245539:p.Glu133Lys		Somatic				MRPS7_ENST00000579002.1_Missense_Mutation_p.E162K|MRPS7_ENST00000245539.6_Missense_Mutation_p.E133K	p.E133K			WXS	Illumina GAIIx	Phase_I	Q9Y2R9	RT07_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		4	624	+	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		133					B2R9N5|Q53GD6	Missense_Mutation	SNP	ENST00000245539.6	37	c.397G>A	CCDS11718.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967428	0.53507	.	.	ENSG00000125445	ENST00000245539	T	0.48201	0.82	5.53	4.56	0.56223	Ribosomal protein S7 domain (3);	0.198201	0.53938	D	0.000048	T	0.40645	0.1125	L	0.39566	1.225	0.49915	D	0.999832	B	0.29378	0.243	B	0.31101	0.124	T	0.22068	-1.0227	10	0.33940	T	0.23	-8.8175	14.0077	0.64475	0.0723:0.0:0.9277:0.0	.	133	Q9Y2R9	RT07_HUMAN	K	133	ENSP00000245539:E133K	ENSP00000245539:E133K	E	+	1	0	MRPS7	70771073	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	1.708000	0.37899	1.321000	0.45227	0.563000	0.77884	GAA		0.522	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	NM_015971		48	425	0	0	0	1	0	48	425					A	73259478	G	A	73259478	3	1	37	1	0	0	0	0	1	0	0	0	9857	1175	41	3	411	3	MRPS7	17	73259478	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	6733359	73259478	7935732	299	3663										
TSPAN10	5148	broad.mit.edu	37	chr17	79615062	79615062	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cctgcgcctggatgcggacgCagctcagagagtggtgtacc	15	12	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:79615062C>A	ENST00000331056.5	-	0	1023				PDE6G_ENST00000574777.1_5'Flank|TSPAN10_ENST00000328585.4_RNA|TSPAN10_ENST00000572675.1_RNA	NM_002602.3	NP_002593.1	P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma						activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			lung(2)|urinary_tract(1)	3	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)		Sildenafil(DB00203)|Vardenafil(DB00862)	GATGCGGACGCAGCTCAGAGA	0.711																																					GBM(189;38 2147 16440 40945 46567)	ENST00000328585.4																			0				ovary(1)	1								tetraspanin 10							16	20	18					17																	79615062		2035	4169	6204	SO:0001628	intergenic_variant	83882					integral to membrane		g.chr17:79615062C>A		CCDS11783.1	17q21.1	2014-01-28				ENSG00000185527	3.1.4.17	"Phosphodiesterases"	8789	protein-coding gene	gene with protein product		180073		PDEG		2155175	Standard	NM_002602		Approved	RP57	uc002kay.3	P18545			17.37:g.79615062C>A			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	896	+	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)							Q3KP63|Q7Z3U8	RNA	SNP	ENST00000331056.5	37		CCDS11783.1	.	.	.	.	.	.	.	.	.	.	C	8.536	0.872216	0.17322	.	.	ENSG00000182612	ENST00000328585	T	0.78924	-1.22	4.48	2.43	0.29744	Tetraspanin, EC2 domain (1);	0.387024	0.25951	N	0.027251	T	0.48696	0.1514	.	.	.	0.09310	N	1	B	0.16166	0.016	B	0.22152	0.038	T	0.40079	-0.9582	9	0.02654	T	1	-4.3299	3.9319	0.09290	0.172:0.5641:0.0:0.2639	.	269	Q9H1Z9	TSN10_HUMAN	E	269	ENSP00000331620:A269E	ENSP00000331620:A269E	A	+	2	0	TSPAN10	77225467	0.000000	0.05858	0.000000	0.03702	0.684000	0.39900	0.507000	0.22675	0.467000	0.27218	0.655000	0.94253	GCA		0.711	PDE6G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440314.1			4	16	1	0	0.150653	1	0.151001	4	16					A	79615062	C	A	79615062	1	1	37	0	1	0	0	0	0	0	0	0	16649	710	25	5		5	TSPAN10	17	79615062	IGR	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	6355584	79615062	1580148	300	3664										
PTPRM	5797	broad.mit.edu	37	chr18	8406128	8406128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	atcagtacaagttctgctacGaggtggccctggaatacttg	11	9	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:8406128G>A	ENST00000332175.8	+	31	5364	c.4327G>A	c.(4327-4329)Gag>Aag	p.E1443K	PTPRM_ENST00000580170.1_Missense_Mutation_p.E1456K|RP11-789C17.5_ENST00000579805.1_RNA|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1457K|PTPRM_ENST00000400053.4_Missense_Mutation_p.E1381K|PTPRM_ENST00000444013.1_Missense_Mutation_p.E1230K|RP11-789C17.1_ENST00000578897.1_RNA	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1443	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)				GTTCTGCTACGAGGTGGCCCT	0.453																																						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.(4327-4329)Gag>Aag		protein tyrosine phosphatase, receptor type, M							154	136	142					18																	8406128		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.chr18:8406128G>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.4327G>A	18.37:g.8406128G>A	ENSP00000331418:p.Glu1443Lys		Somatic				PTPRM_ENST00000400053.4_Missense_Mutation_p.E1381K|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1457K|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1456K|PTPRM_ENST00000444013.1_Missense_Mutation_p.E1230K	p.E1443K	NM_002845.3	NP_002836.3	WXS	Illumina GAIIx	Phase_I	P28827	PTPRM_HUMAN			31	5364	+		Colorectal(10;0.234)	1443			Tyrosine-protein phosphatase 2.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.4327G>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120007	0.94385	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	6.17	6.17	0.99709	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.132156	0.51477	D	0.000081	D	0.87861	0.6284	L	0.37800	1.135	0.80722	D	1	P;D;D	0.67145	0.903;0.996;0.982	P;D;B	0.74348	0.589;0.983;0.411	D	0.84965	0.0879	10	0.34782	T	0.22	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1230;1456;1443	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	K	1443;1457;1381;1230	ENSP00000331418:E1443K;ENSP00000382933:E1457K;ENSP00000382927:E1381K;ENSP00000387608:E1230K	ENSP00000331418:E1443K	E	+	1	0	PTPRM	8396128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.978000	0.88095	2.941000	0.99782	0.655000	0.94253	GAG		0.453	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			5	42	0	0	0	1	0	5	42					A	8406128	G	A	8406128	3	1	37	1	0	0	0	0	1	0	0	0	12821	1059	37	1	4496	1	PTPRM	18	8406128	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08		8406128	69671120	301	3665										
KCTD1	284252	broad.mit.edu	37	chr18	24081165	24081165	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tgccttggttgttcagtggaGatgcaggggatctagtgatc	15	6	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:24081165G>C	ENST00000408011.3	-	2	594	c.35C>G	c.(34-36)tCt>tGt	p.S12C	KCTD1_ENST00000417602.1_Missense_Mutation_p.S620C|KCTD1_ENST00000580059.1_Missense_Mutation_p.S12C|KCTD1_ENST00000579973.1_Missense_Mutation_p.S12C|KCTD1_ENST00000317932.7_Missense_Mutation_p.S12C	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	12					negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			GTTCAGTGGAGATGCAGGGGA	0.478																																						ENST00000417602.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(1858-1860)tCt>tGt		potassium channel tetramerization domain containing 1							267	236	246					18																	24081165		2203	4300	6503	SO:0001583	missense	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24081165G>C	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"potassium channel tetramerisation domain containing 1"	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.35C>G	18.37:g.24081165G>C	ENSP00000384367:p.Ser12Cys		Somatic				KCTD1_ENST00000317932.7_Missense_Mutation_p.S12C|KCTD1_ENST00000579973.1_Missense_Mutation_p.S12C|KCTD1_ENST00000408011.3_Missense_Mutation_p.S12C|KCTD1_ENST00000580059.1_Missense_Mutation_p.S12C	p.S620C	NM_001142730.2	NP_001136202.1	WXS	Illumina GAIIx	Phase_I	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		2	1858	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		12					A8K1F5	Missense_Mutation	SNP	ENST00000408011.3	37	c.1859C>G	CCDS11888.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183315	0.78677	.	.	ENSG00000134504	ENST00000317932;ENST00000417602;ENST00000408011	T;T;T	0.79749	-0.97;-1.3;-0.97	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.84234	0.5427	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.85440	0.1154	10	0.56958	D	0.05	.	19.7951	0.96477	0.0:0.0:1.0:0.0	.	12	Q719H9	KCTD1_HUMAN	C	12;620;12	ENSP00000314831:S12C;ENSP00000408405:S620C;ENSP00000384367:S12C	ENSP00000314831:S12C	S	-	2	0	KCTD1	22335163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.463000	0.80869	2.698000	0.92095	0.561000	0.74099	TCT		0.478	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		6	114	0	0	0	1	0	6	114					C	24081165	G	C	24081165	3	2	37	1	0	0	0	0	1	0	0	0	8105	942	33	2	754	2	KCTD1	18	24081165	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	15675037	24081165	53996083	302	3666										
DCC	1630	broad.mit.edu	37	chr18	50936947	50936947	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttgatactatgtattactttCgaattcaagcacgaaattca	5	7	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:50936947C>G	ENST00000442544.2	+	20	3677	c.3061C>G	c.(3061-3063)Cga>Gga	p.R1021G	DCC_ENST00000412726.1_Missense_Mutation_p.R849G|DCC_ENST00000581580.1_Missense_Mutation_p.R656G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1021	Fibronectin type-III 6. {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)		GTATTACTTTCGAATTCAAGC	0.378																																						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.(3061-3063)Cga>Gga		deleted in colorectal carcinoma							137	132	134					18																	50936947		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50936947C>G	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.3061C>G	18.37:g.50936947C>G	ENSP00000389140:p.Arg1021Gly		Somatic				DCC_ENST00000581580.1_Missense_Mutation_p.R656G|DCC_ENST00000412726.1_Missense_Mutation_p.R849G	p.R1021G	NM_005215.3	NP_005206.2	WXS	Illumina GAIIx	Phase_I	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	20	3677	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1021			Fibronectin type-III 6.			Missense_Mutation	SNP	ENST00000442544.2	37	c.3061C>G	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917306	0.33815	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.60797	0.16;0.16	5.87	4.9	0.64082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.75642	0.3877	M	0.87900	2.915	0.42433	D	0.992683	P;P;D	0.58970	0.93;0.93;0.984	P;P;P	0.61132	0.884;0.884;0.884	T	0.79522	-0.1769	10	0.72032	D	0.01	-7.6313	13.6129	0.62091	0.2354:0.7646:0.0:0.0	.	849;849;1021	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	G	1021;849	ENSP00000389140:R1021G;ENSP00000397322:R849G	ENSP00000397322:R849G	R	+	1	2	DCC	49190945	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.196000	0.42686	2.941000	0.99782	0.655000	0.94253	CGA		0.378	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		8	58	0	0	0	1	0	8	58					G	50936947	C	G	50936947	3	3	37	1	0	0	0	0	1	0	0	0	4284	876	31	2	3139	2	DCC	18	50936947	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	26855782	50936947	27140301	303	3667										
SERPINB7	8710	broad.mit.edu	37	chr18	61468144	61468144	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	atgcatcaggaacggaagttCaatttgtctgttattgagga	11	5	3	1	rs368022993		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:61468144C>T	ENST00000398019.2	+	7	967	c.642C>T	c.(640-642)ttC>ttT	p.F214F	SERPINB7_ENST00000336429.2_Silent_p.F214F|SERPINB7_ENST00000540675.1_Silent_p.F197F|SERPINB7_ENST00000546027.1_Silent_p.F214F	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	214					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)				AACGGAAGTTCAATTTGTCTG	0.408																																						ENST00000398019.2																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(640-642)ttC>ttT		serpin peptidase inhibitor, clade B (ovalbumin), member 7		C	,	0,4406		0,0,2203	189	166	174		642,642	4	1	18		174	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SERPINB7	NM_001040147.1,NM_003784.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	214/381,214/381	61468144	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61468144C>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.642C>T	18.37:g.61468144C>T			Somatic				SERPINB7_ENST00000546027.1_Silent_p.F214F|SERPINB7_ENST00000540675.1_Silent_p.F197F|SERPINB7_ENST00000336429.2_Silent_p.F214F	p.F214F	NM_003784.3	NP_003775.1	WXS	Illumina GAIIx	Phase_I	O75635	SPB7_HUMAN			7	967	+		Esophageal squamous(42;0.129)	214					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Silent	SNP	ENST00000398019.2	37	c.642C>T	CCDS11988.1																																																																																				0.408	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		10	73	0	0	0	1	0	10	73					T	61468144	C	T	61468144	2	4	37	1	0	0	0	0	0	0	0	1	14121	825	29	3		3	SERPINB7	18	61468144	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	10531197	61468144	16609104	304	3668										
C19orf26	255057	broad.mit.edu	37	chr19	1234625	1234625	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ccgggtggggcgtggtggctGagctggcctcgcctgagtca	19	11	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:1234625G>C	ENST00000382477.2	-	6	906	c.632C>G	c.(631-633)tCa>tGa	p.S211*	C19orf26_ENST00000590083.1_Nonsense_Mutation_p.S191*|C19orf26_ENST00000215376.6_Nonsense_Mutation_p.S185*			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	211						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGGTGGCTGAGCTGGCCTC	0.672										HNSCC(14;0.022)																												ENST00000590083.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(571-573)tCa>tGa		chromosome 19 open reading frame 26							82	65	71					19																	1234625		2196	4295	6491	SO:0001587	stop_gained	255057					integral to membrane		g.chr19:1234625G>C	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"downstream of STK11"					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.632C>G	19.37:g.1234625G>C	ENSP00000371917:p.Ser211*	HNSCC(14;0.022)	Somatic				C19orf26_ENST00000215376.6_Nonsense_Mutation_p.S185*|C19orf26_ENST00000382477.2_Nonsense_Mutation_p.S211*	p.S191*			WXS	Illumina GAIIx	Phase_I	Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	864	-		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)	211					O43385	Nonsense_Mutation	SNP	ENST00000382477.2	37	c.572C>G		.	.	.	.	.	.	.	.	.	.	G	19.50	3.840211	0.71488	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	.	.	.	3.06	0.92	0.19397	.	0.894418	0.09467	N	0.798174	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	4.6001	0.12348	0.308:0.0:0.692:0.0	.	.	.	.	X	211;185	.	ENSP00000215376:S185X	S	-	2	0	C19orf26	1185625	0.073000	0.21202	0.029000	0.17559	0.006000	0.05464	1.972000	0.40540	0.628000	0.30357	0.561000	0.74099	TCA		0.672	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		8	11	0	0	0	1	0	8	11					C	1234625	G	C	1234625	4	2	37	1	0	0	0	0	0	1	0	0	1918	1294	45	2	805	2	C19orf26	19	1234625	Nonsense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08		1234625	57894358	305	3669										
APC2	10297	broad.mit.edu	37	chr19	1460850	1460850	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gcctccgacagtgaggagctCcaccaggtacagggcggggt	16	12	0	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:1460850C>G	ENST00000535453.1	+	11	3228	c.1515C>G	c.(1513-1515)ctC>ctG	p.L505L	APC2_ENST00000233607.2_Silent_p.L505L|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000238483.4_Silent_p.L231L			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)		GTGAGGAGCTCCACCAGGTAC	0.697																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(1513-1515)ctC>ctG		adenomatosis polyposis coli 2							23	28	26					19																	1460850		2200	4294	6494	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.chr19:1460850C>G		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.1515C>G	19.37:g.1460850C>G			Somatic				APC2_ENST00000238483.4_Silent_p.L231L|APC2_ENST00000233607.2_Silent_p.L505L|CTB-25B13.12_ENST00000588225.1_RNA	p.L505L			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)	11	3228	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	505					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.1515C>G	CCDS12068.1																																																																																				0.697	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		8	38	0	0	0	1	0	8	38					G	1460850	C	G	1460850	2	3	37	1	0	0	0	0	0	0	0	1	764	842	30	2		2	APC2	19	1460850	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	226225	1460850	57668133	306	3670										
ATP8B3	148229	broad.mit.edu	37	chr19	1796753	1796753	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cgcaccatcaccgtgtggcaGatggccagcaggcgccagaa	13	14	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:1796753G>C	ENST00000310127.6	-	16	1948	c.1710C>G	c.(1708-1710)atC>atG	p.I570M	ATP8B3_ENST00000539485.1_Missense_Mutation_p.I570M|ATP8B3_ENST00000525591.1_Missense_Mutation_p.I523M	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	570					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGTGGCAGATGGCCAGCA	0.716																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(1708-1710)atC>atG		ATPase, aminophospholipid transporter, class I, type 8B, member 3							29	35	33					19																	1796753		2090	4179	6269	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1796753G>C	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1710C>G	19.37:g.1796753G>C	ENSP00000311336:p.Ile570Met		Somatic				ATP8B3_ENST00000525591.1_Missense_Mutation_p.I523M|ATP8B3_ENST00000310127.6_Missense_Mutation_p.I570M	p.I570M			WXS	Illumina GAIIx	Phase_I	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	16	1943	-		Hepatocellular(1079;0.137)	570					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.1710C>G	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679503	0.47886	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.64438	-0.1;-0.1;-0.1	3.63	1.36	0.22044	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.228496	0.37053	N	0.002269	T	0.71937	0.3399	M	0.86097	2.795	0.26431	N	0.975945	D;P	0.54772	0.968;0.934	P;P	0.58331	0.837;0.787	T	0.62358	-0.6871	10	0.72032	D	0.01	.	5.1199	0.14854	0.2014:0.1698:0.6287:0.0	.	570;523	O60423;Q7Z485	AT8B3_HUMAN;.	M	570;570;523	ENSP00000311336:I570M;ENSP00000443574:I570M;ENSP00000437115:I523M	ENSP00000311336:I570M	I	-	3	3	ATP8B3	1747753	0.989000	0.36119	1.000000	0.80357	0.791000	0.44710	0.119000	0.15626	0.748000	0.32831	0.561000	0.74099	ATC		0.716	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		7	32	0	0	0	1	0	7	32					C	1796753	G	C	1796753	3	2	37	1	0	0	0	0	1	0	0	0	1196	932	33	2	2278	2	ATP8B3	19	1796753	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	335903	1796753	57332230	307	3671										
PLEKHJ1	55111	broad.mit.edu	37	chr19	2233840	2233840	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tgaccaccgtgccctgcgctCacgcctgcaagccactcagc	9	19	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:2233840C>T	ENST00000589097.1	-	7	1562	c.449G>A	c.(448-450)tGa>tAa	p.*150*	PLEKHJ1_ENST00000587394.2_Intron|PLEKHJ1_ENST00000591099.2_3'UTR|PLEKHJ1_ENST00000589791.1_5'UTR|PLEKHJ1_ENST00000586608.2_Silent_p.*151*|MIR1227_ENST00000408484.1_RNA|PLEKHJ1_ENST00000587962.2_3'UTR|PLEKHJ1_ENST00000326631.2_Silent_p.*150*|SF3A2_ENST00000221494.5_5'Flank			Q9NW61	PKHJ1_HUMAN	pleckstrin homology domain containing, family J member 1	0										endometrium(1)|kidney(1)	2				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)		GCCCTGCGCTCACGCCTGCAA	0.637																																						ENST00000589097.1																			0				endometrium(1)|kidney(1)	2						c.(448-450)tGa>tAa		pleckstrin homology domain containing, family J member 1							25	21	23					19																	2233840		2188	4290	6478	SO:0001819	synonymous_variant	55111						protein binding	g.chr19:2233840C>T	AK001159	CCDS12083.1, CCDS74251.1	19p13.3	2013-01-10				ENSG00000104886		"Pleckstrin homology (PH) domain containing"	18211	protein-coding gene	gene with protein product	"guanine nucleotide releasing protein x"					11602354	Standard	XM_006722784		Approved	FLJ10297	uc002lvf.1	Q9NW61		ENST00000589097.1:c.449G>A	19.37:g.2233840C>T			Somatic				PLEKHJ1_ENST00000587962.1_3'UTR|PLEKHJ1_ENST00000591099.1_3'UTR|PLEKHJ1_ENST00000586608.1_Silent_p.*151*|PLEKHJ1_ENST00000326631.2_Silent_p.*150*|PLEKHJ1_ENST00000588545.1_Silent_p.*131*|PLEKHJ1_ENST00000587394.1_Intron|PLEKHJ1_ENST00000589791.1_5'UTR	p.*150*			WXS	Illumina GAIIx	Phase_I	Q9NW61	PKHJ1_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	1562	-			0					B3KUQ9|D6W604	Silent	SNP	ENST00000589097.1	37	c.449G>A	CCDS12083.1																																																																																				0.637	PLEKHJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451255.1	NM_018049		4	20	0	0	0	1	0	4	20					T	2233840	C	T	2233840	2	4	37	1	0	0	0	0	0	0	0	1	12088	837	29	3		3	PLEKHJ1	19	2233840	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	437087	2233840	56895143	308	3672										
PIP5K1C	23396	broad.mit.edu	37	chr19	3656427	3656427	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tagtagccagggagcagcttCtgcaggaactcggcctcctt	12	12	1	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:3656427C>T	ENST00000335312.3	-	6	685	c.597G>A	c.(595-597)caG>caA	p.Q199Q	PIP5K1C_ENST00000537021.1_Silent_p.Q199Q|PIP5K1C_ENST00000539785.1_Silent_p.Q199Q|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000589578.1_Silent_p.Q199Q	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	199	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			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)		GGAGCAGCTTCTGCAGGAACT	0.642																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3																			0				large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.(595-597)caG>caA		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							70	72	71					19																	3656427		2203	4300	6503	SO:0001819	synonymous_variant	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3656427C>T	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.597G>A	19.37:g.3656427C>T			Somatic				PIP5K1C_ENST00000589578.1_Silent_p.Q199Q|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Silent_p.Q199Q|PIP5K1C_ENST00000537021.1_Silent_p.Q199Q	p.Q199Q	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)	6	685	-		Hepatocellular(1079;0.137)	199			PIPK.		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Silent	SNP	ENST00000335312.3	37	c.597G>A	CCDS32872.1																																																																																				0.642	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		11	58	0	0	0	1	0	11	58					T	3656427	C	T	3656427	2	4	37	1	0	0	0	0	0	0	0	1	11950	912	32	3		3	PIP5K1C	19	3656427	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	1422587	3656427	55472556	309	3673										
FBN3	84467	broad.mit.edu	37	chr19	8176535	8176535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cacccctctaatctcaccttCgcagaagaagccatccccgg	6	18	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:8176535C>T	ENST00000600128.1	-	32	4495	c.4081G>A	c.(4081-4083)Gaa>Aaa	p.E1361K	FBN3_ENST00000270509.2_Missense_Mutation_p.E1361K|FBN3_ENST00000601739.1_Missense_Mutation_p.E1361K			Q75N90	FBN3_HUMAN	fibrillin 3	1361	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)			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						ATCTCACCTTCGCAGAAGAAG	0.642																																						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.(4081-4083)Gaa>Aaa		fibrillin 3							22	23	23					19																	8176535		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8176535C>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.4081G>A	19.37:g.8176535C>T	ENSP00000470498:p.Glu1361Lys		Somatic				FBN3_ENST00000270509.2_Missense_Mutation_p.E1361K|FBN3_ENST00000601739.1_Missense_Mutation_p.E1361K	p.E1361K			WXS	Illumina GAIIx	Phase_I	Q75N90	FBN3_HUMAN			32	4495	-			1361			EGF-like 20; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4081G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	3.775	-0.046732	0.07407	.	.	ENSG00000142449	ENST00000270509	T	0.42131	0.98	3.24	-0.289	0.12851	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.217426	0.38959	U	0.001513	T	0.18718	0.0449	L	0.46885	1.475	0.19575	N	0.999968	P	0.44006	0.824	B	0.28139	0.086	T	0.26643	-1.0097	10	0.12766	T	0.61	.	1.3805	0.02229	0.3252:0.392:0.1317:0.1512	.	1361	Q75N90	FBN3_HUMAN	K	1361	ENSP00000270509:E1361K	ENSP00000270509:E1361K	E	-	1	0	FBN3	8082535	0.056000	0.20664	0.060000	0.19600	0.113000	0.19764	0.769000	0.26604	-0.082000	0.12640	0.313000	0.20887	GAA		0.642	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		3	15	0	0	0	1	0	3	15					T	8176535	C	T	8176535	3	4	37	1	0	0	0	0	1	0	0	0	5712	893	31	1	4480	1	FBN3	19	8176535	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	4520108	8176535	50952448	310	3674										
PKN1	5585	broad.mit.edu	37	chr19	14578566	14578566	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cctctgaccctcgaagatttCaagttcctggcggtgctggg	12	12	2	2	rs372299413		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:14578566C>G	ENST00000242783.6	+	14	2010	c.1845C>G	c.(1843-1845)ttC>ttG	p.F615L	PKN1_ENST00000342216.4_Missense_Mutation_p.F621L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	615	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TCGAAGATTTCAAGTTCCTGG	0.632																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1843-1845)ttC>ttG		protein kinase N1							56	63	61					19																	14578566		1963	4139	6102	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14578566C>G	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1845C>G	19.37:g.14578566C>G	ENSP00000242783:p.Phe615Leu		Somatic				PKN1_ENST00000342216.4_Missense_Mutation_p.F621L	p.F615L	NM_002741.3	NP_002732.3	WXS	Illumina GAIIx	Phase_I	Q16512	PKN1_HUMAN			14	2010	+			615			Protein kinase.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.1845C>G	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137127	0.77775	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.32988	1.43;1.43	4.0	2.95	0.34219	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	T	0.44074	0.1276	L	0.48642	1.525	0.47214	D	0.99935	D;D	0.69078	0.996;0.997	D;D	0.74348	0.971;0.983	T	0.36311	-0.9753	10	0.87932	D	0	-28.0763	9.5382	0.39235	0.0:0.8924:0.0:0.1076	.	621;615	Q16512-2;Q16512	.;PKN1_HUMAN	L	615;621	ENSP00000242783:F615L;ENSP00000343325:F621L	ENSP00000242783:F615L	F	+	3	2	PKN1	14439566	0.321000	0.24625	1.000000	0.80357	0.927000	0.56198	0.699000	0.25586	1.023000	0.39654	0.462000	0.41574	TTC		0.632	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		7	74	0	0	0	1	0	7	74					G	14578566	C	G	14578566	3	3	37	1	0	0	0	0	1	0	0	0	11988	825	29	2	1942	2	PKN1	19	14578566	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	6402031	14578566	44550417	311	3675										
TECR	9524	broad.mit.edu	37	chr19	14675027	14675027	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tgtcactcattccactacatCaagcgcctgctggagacgct	8	14	3	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:14675027C>G	ENST00000215567.5	+	7	554	c.417C>G	c.(415-417)atC>atG	p.I139M	TECR_ENST00000436007.2_Missense_Mutation_p.I154M|TECR_ENST00000596073.1_5'UTR|TECR_ENST00000600083.1_5'UTR	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	139					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						TCCACTACATCAAGCGCCTGC	0.627																																						ENST00000436007.2																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(460-462)atC>atG		trans-2,3-enoyl-CoA reductase							94	78	83					19																	14675027		2203	4300	6503	SO:0001583	missense	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.chr19:14675027C>G	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.417C>G	19.37:g.14675027C>G	ENSP00000215567:p.Ile139Met		Somatic				TECR_ENST00000215567.5_Missense_Mutation_p.I139M|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596073.1_5'UTR	p.I154M			WXS	Illumina GAIIx	Phase_I	Q9NZ01	TECR_HUMAN			8	586	+			139					B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Missense_Mutation	SNP	ENST00000215567.5	37	c.462C>G	CCDS12313.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.952086	0.34471	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.27890	1.65;1.64	4.23	1.91	0.25777	.	0.611666	0.16028	N	0.233018	T	0.31295	0.0792	M	0.74647	2.275	0.30444	N	0.775949	B;B;B	0.21688	0.034;0.059;0.034	B;B;B	0.24155	0.031;0.051;0.031	T	0.27806	-1.0063	10	0.51188	T	0.08	-13.5137	6.1657	0.20388	0.0:0.5205:0.3749:0.1045	.	139;154;139	B3KM97;B3KSQ1;Q9NZ01	.;.;TECR_HUMAN	M	139;154	ENSP00000215567:I139M;ENSP00000397206:I154M	ENSP00000215567:I139M	I	+	3	3	TECR	14536027	0.976000	0.34144	0.929000	0.37066	0.958000	0.62258	0.139000	0.16036	0.202000	0.20498	0.455000	0.32223	ATC		0.627	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501		15	94	0	0	0	1	0	15	94					G	14675027	C	G	14675027	3	3	37	1	0	0	0	0	1	0	0	0	15760	816	29	2	443	2	TECR	19	14675027	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	96461	14675027	44453956	312	3676										
ZNF493	284443	broad.mit.edu	37	chr19	21588648	21588648	+	Intron	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aagggacacagtacggtagtCaaacccccaggtaggtgaga	13	9	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:21588648C>G	ENST00000355504.4	+	1	135				ZNF493_ENST00000392288.2_Silent_p.V81V|CTD-2561J22.3_ENST00000600810.1_Silent_p.V62V|ZNF493_ENST00000339914.6_Silent_p.V82V|ZNF493_ENST00000594390.1_Silent_p.V81V|ZNF493_ENST00000596302.1_Silent_p.V82V	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GTACGGTAGTCAAACCCCCAG	0.408																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(241-243)gtC>gtG		zinc finger protein 493							77	80	79					19																	21588648		2203	4300	6503	SO:0001627	intron_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21588648C>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.-132+8579C>G	19.37:g.21588648C>G			Somatic				CTD-2561J22.3_ENST00000600810.1_Silent_p.V62V|ZNF493_ENST00000596302.1_Silent_p.V82V|ZNF493_ENST00000594390.1_Silent_p.V81V|ZNF493_ENST00000355504.4_Intron|ZNF493_ENST00000339914.6_Silent_p.V82V	p.V81V	NM_001076678.2	NP_001070146.1	WXS	Illumina GAIIx	Phase_I	Q6ZR52	ZN493_HUMAN			3	352	+			0					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.243C>G	CCDS12412.1																																																																																				0.408	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		4	52	0	0	0	1	0	4	52					G	21588648	C	G	21588648	1	3	37	0	1	0	0	0	0	0	0	0	17959	813	29	2		2	ZNF493	19	21588648	Intron	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	6913621	21588648	37540335	313	3677										
CCDC123	84902	broad.mit.edu	37	chr19	33370197	33370197	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttgtcctgcacgcctgtcctCgtgagtgtgtcctggagaag	13	11	0	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:33370197C>T	ENST00000305768.5	-	19	2311	c.2223G>A	c.(2221-2223)acG>acA	p.T741T	CTD-2085J24.4_ENST00000586628.2_lincRNA	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	741					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						CGCCTGTCCTCGTGAGTGTGT	0.532																																						ENST00000305768.4																			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.(2221-2223)acG>acA		centrosomal protein 89kDa							165	160	162					19																	33370197		2203	4300	6503	SO:0001819	synonymous_variant	84902					centrosome|spindle pole		g.chr19:33370197C>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.2223G>A	19.37:g.33370197C>T			Somatic					p.T741T	NM_032816.3	NP_116205.3	WXS	Illumina GAIIx	Phase_I	Q96ST8	CEP89_HUMAN			19	2311	-			741					B9EGA6|Q8N5J8	Silent	SNP	ENST00000305768.5	37	c.2223G>A	CCDS32987.1																																																																																				0.532	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		5	217	0	0	0	1	0	5	217					T	33370197	C	T	33370197	2	4	37	1	0	0	0	0	0	0	0	1	2761	871	31	1		1	CCDC123	19	33370197	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	11781549	33370197	25758786	314	3678										
UBA2	10054	broad.mit.edu	37	chr19	34960012	34960012	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tcttcaaataatgccgacgtCagtgaagaagagagaagccg	11	8	3	4	rs545176184		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:34960012C>A	ENST00000246548.4	+	17	1879	c.1809C>A	c.(1807-1809)gtC>gtA	p.V603V	UBA2_ENST00000592791.1_Silent_p.V129V|UBA2_ENST00000588585.1_3'UTR|UBA2_ENST00000439527.2_Silent_p.V507V	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	603					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATGCCGACGTCAGTGAAGAAG	0.393																																						ENST00000439527.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1519-1521)gtC>gtA		ubiquitin-like modifier activating enzyme 2							42	41	41					19																	34960012		2203	4300	6503	SO:0001819	synonymous_variant	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34960012C>A	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1809C>A	19.37:g.34960012C>A			Somatic				UBA2_ENST00000246548.4_Silent_p.V603V|UBA2_ENST00000588585.1_3'UTR|UBA2_ENST00000592791.1_Silent_p.V129V	p.V507V			WXS	Illumina GAIIx	Phase_I	Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		17	2019	+	Esophageal squamous(110;0.162)		603					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Silent	SNP	ENST00000246548.4	37	c.1521C>A	CCDS12439.1																																																																																				0.393	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		4	35	1	0	1	1	1	4	35					A	34960012	C	A	34960012	2	1	37	1	0	0	0	0	0	0	0	1	16843	813	29	2		2	UBA2	19	34960012	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	1589815	34960012	24168971	315	3679										
TMEM149	79713	broad.mit.edu	37	chr19	36231466	36231466	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gttttcccggaactcatagtCtagcgggaaagctgcgctcc	11	12	2	0	rs112857545		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:36231466C>G	ENST00000592537.1	-	3	258		c.e3-1		IGFLR1_ENST00000592889.1_Intron|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000246532.1_Splice_Site|AD000671.6_ENST00000589807.1_Splice_Site			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						AACTCATAGTCTAGCGGGAAA	0.662																																						ENST00000589807.1																			0											c.e9-1									27	23	24					19																	36231466		2202	4300	6502	SO:0001630	splice_region_variant	0							g.chr19:36231466C>G	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 4", "transmembrane protein 149"	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.158-1G>C	19.37:g.36231466C>G			Somatic				IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000246532.1_Splice_Site|IGFLR1_ENST00000592537.1_Splice_Site|IGFLR1_ENST00000344990.3_Intron				WXS	Illumina GAIIx	Phase_I					9	986	-								Q8N5X0	Splice_Site	SNP	ENST00000592537.1	37		CCDS12472.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026813	0.35797	.	.	ENSG00000126246	ENST00000246532	.	.	.	4.62	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.35275	D	0.780832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9449	0.29980	0.0:0.8905:0.0:0.1095	.	.	.	.	.	-1	.	.	.	-	.	.	IGFLR1	40923306	0.182000	0.23173	0.073000	0.20177	0.142000	0.21351	1.347000	0.33975	2.557000	0.86248	0.561000	0.74099	.		0.662	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660	Intron	9	67	0	0	0	1	0	9	67					G	36231466	C	G	36231466	5	3	37	1	0	0	0	0	0	0	1	0	16077	927	32	2	922	2	TMEM149	19	36231466	Splice_Site	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	1271454	36231466	22897517	316	3680										
ZFP82	284406	broad.mit.edu	37	chr19	36896496	36896496	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cctcacctggatattgtcttCttcctttcctcacaactttc	3	15	4	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:36896496C>T	ENST00000392161.3	-	4	457	c.215G>A	c.(214-216)aGa>aAa	p.R72K	ZFP82_ENST00000392171.1_Intron	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	72	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)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATATTGTCTTCTTCCTTTCCT	0.438																																						ENST00000392161.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(214-216)aGa>aAa		ZFP82 zinc finger protein							163	139	147					19																	36896496		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36896496C>T	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"Zinc fingers, C2H2-type", "-"	28682	protein-coding gene	gene with protein product			"zinc finger protein 545", "zinc finger protein 82 homolog (mouse)", "zinc finger protein 82"	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.215G>A	19.37:g.36896496C>T	ENSP00000431265:p.Arg72Lys		Somatic				ZFP82_ENST00000392171.1_Intron	p.R72K	NM_133466.2	NP_597723.1	WXS	Illumina GAIIx	Phase_I	Q8N141	ZFP82_HUMAN			4	457	-			72			KRAB.		Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.215G>A	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	C	0.271	-0.992592	0.02162	.	.	ENSG00000181007	ENST00000392161	T	0.06528	3.29	4.05	1.95	0.26073	Krueppel-associated box (1);	0.490864	0.15175	N	0.276413	T	0.03564	0.0102	N	0.26130	0.795	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.02654	T	1	.	6.424	0.21760	0.0:0.7807:0.0:0.2193	.	72	Q8N141	ZFP82_HUMAN	K	72	ENSP00000431265:R72K	ENSP00000431265:R72K	R	-	2	0	ZFP82	41588336	0.000000	0.05858	0.757000	0.31301	0.499000	0.33736	-0.328000	0.07945	0.683000	0.31428	0.650000	0.86243	AGA		0.438	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		7	38	0	0	0	1	0	7	38					T	36896496	C	T	36896496	3	4	37	1	0	0	0	0	1	0	0	0	17668	913	32	3	1391	3	ZFP82	19	36896496	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	665030	36896496	22232487	317	3681										
FCGBP	8857	broad.mit.edu	37	chr19	40395956	40395956	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aggccgggtgccgcaggtctGagccagcacatacacgcagg	15	13	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:40395956G>C	ENST00000221347.6	-	15	7448	c.7441C>G	c.(7441-7443)Cag>Gag	p.Q2481E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2481	VWFD 6. {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)			CCGCAGGTCTGAGCCAGCACA	0.642																																						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.(7441-7443)Cag>Gag		Fc fragment of IgG binding protein							152	125	135					19																	40395956		2169	3937	6106	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395956G>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7441C>G	19.37:g.40395956G>C	ENSP00000221347:p.Gln2481Glu		Somatic					p.Q2481E	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)		15	7448	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2481			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7441C>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408121	0.42715	.	.	ENSG00000090920	ENST00000221347	T	0.61742	0.08	3.44	-2.95	0.05564	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.49115	0.1538	L	0.37850	1.14	0.09310	N	1	B	0.31893	0.345	B	0.41917	0.37	T	0.51865	-0.8651	9	0.37606	T	0.19	.	8.2993	0.32004	0.0:0.137:0.3059:0.5572	.	2481	Q9Y6R7	FCGBP_HUMAN	E	2481	ENSP00000221347:Q2481E	ENSP00000221347:Q2481E	Q	-	1	0	FCGBP	45087796	0.000000	0.05858	0.006000	0.13384	0.754000	0.42855	-0.101000	0.10973	-0.741000	0.04797	0.298000	0.19748	CAG		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		29	311	0	0	0	1	0	29	311					C	40395956	G	C	40395956	3	2	37	1	0	0	0	0	1	0	0	0	5786	1299	45	2	8864	2	FCGBP	19	40395956	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	3499460	40395956	18733027	318	3682										
PLD3	23646	broad.mit.edu	37	chr19	40882619	40882619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gacactcggagccatccatgCgggccttcctgctctctctg	10	16	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:40882619C>T	ENST00000409587.1	+	11	1520	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	PLD3_ENST00000409281.1_Missense_Mutation_p.R375W|PLD3_ENST00000409419.1_Missense_Mutation_p.R375W|PLD3_ENST00000356508.5_Missense_Mutation_p.R375W|PLD3_ENST00000409735.4_Missense_Mutation_p.R375W			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	375					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)			GCCATCCATGCGGGCCTTCCT	0.647																																						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.(1123-1125)Cgg>Tgg		phospholipase D family, member 3							63	57	59					19																	40882619		2203	4300	6503	SO:0001583	missense	0				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40882619C>T	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.1123C>T	19.37:g.40882619C>T	ENSP00000387050:p.Arg375Trp		Somatic				PLD3_ENST00000356508.5_Missense_Mutation_p.R375W|PLD3_ENST00000409419.1_Missense_Mutation_p.R375W|PLD3_ENST00000409735.4_Missense_Mutation_p.R375W|PLD3_ENST00000409281.1_Missense_Mutation_p.R375W	p.R375W			WXS	Illumina GAIIx	Phase_I	Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		11	1520	+			375					Q92853|Q9BW87	Missense_Mutation	SNP	ENST00000409587.1	37	c.1123C>T	CCDS33027.1	.	.	.	.	.	.	.	.	.	.	c	14.40	2.523390	0.44866	.	.	ENSG00000105223	ENST00000409419;ENST00000409587;ENST00000356508;ENST00000536031;ENST00000409735;ENST00000409281	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.28	4.28	0.50868	Phospholipase D/viral envelope (1);	0.125321	0.52532	D	0.000062	T	0.30070	0.0753	L	0.29908	0.895	0.41231	D	0.986571	P	0.35844	0.524	B	0.37780	0.258	T	0.09207	-1.0685	10	0.38643	T	0.18	0.2245	7.96	0.30066	0.0:0.8899:0.0:0.1101	.	375	Q8IV08	PLD3_HUMAN	W	375;375;375;356;375;375	ENSP00000386293:R375W;ENSP00000387050:R375W;ENSP00000348901:R375W;ENSP00000386938:R375W;ENSP00000387022:R375W	ENSP00000348901:R375W	R	+	1	2	PLD3	45574459	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	1.520000	0.35899	2.241000	0.73720	0.306000	0.20318	CGG		0.647	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		15	73	0	0	0	1	0	15	73					T	40882619	C	T	40882619	3	4	37	1	0	0	0	0	1	0	0	0	12056	759	27	1	1157	1	PLD3	19	40882619	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	486663	40882619	18246364	319	3683										
PSG8	440533	broad.mit.edu	37	chr19	43268424	43268424	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tgggtgggttccagaagtttAaaagtgatgctaggaggtgg	17	3	0	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:43268424A>G	ENST00000306511.4	-	2	171	c.74T>C	c.(73-75)tTa>tCa	p.L25S	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.L25S|PSG8_ENST00000401467.2_Missense_Mutation_p.L25S	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	25						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)				CCAGAAGTTTAAAAGTGATGC	0.478																																						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.(73-75)tTa>tCa		pregnancy specific beta-1-glycoprotein 8							129	132	131					19																	43268424		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr19:43268424A>G	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.74T>C	19.37:g.43268424A>G	ENSP00000305005:p.Leu25Ser		Somatic				PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.L25S|PSG8_ENST00000306511.4_Missense_Mutation_p.L25S	p.L25S	NM_001130167.1	NP_001123639.1	WXS	Illumina GAIIx	Phase_I	Q9UQ74	PSG8_HUMAN			2	170	-		Prostate(69;0.00899)	25					A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.74T>C	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	a	12.52	1.963004	0.34659	.	.	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.29397	1.57;2.66;1.58	1.35	1.35	0.21983	.	.	.	.	.	T	0.45094	0.1325	L	0.58583	1.82	0.20403	N	0.999903	D;B;D;B;B	0.89917	1.0;0.044;1.0;0.439;0.312	D;B;D;B;B	0.91635	0.992;0.021;0.999;0.249;0.126	T	0.15178	-1.0446	9	0.62326	D	0.03	.	4.8841	0.13694	1.0:0.0:0.0:0.0	.	25;25;25;25;25	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	S	25	ENSP00000385869:L25S;ENSP00000386090:L25S;ENSP00000305005:L25S	ENSP00000305005:L25S	L	-	2	0	PSG8	47960264	0.086000	0.21541	0.907000	0.35723	0.122000	0.20287	0.919000	0.28692	0.879000	0.35944	0.155000	0.16302	TTA		0.478	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			11	145	0	0	0	1	0	11	145					G	43268424	A	G	43268424	3	3	37	1	0	0	0	0	1	0	0	0	12673	372	13	4	1243	4	PSG8	19	43268424	Missense_Mutation	SNP	A	TCGA-N9-A4Q7-01A-11D-A28R-08	2385805	43268424	15860559	320	3684										
ETHE1	23474	broad.mit.edu	37	chr19	44030378	44030378	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gcccgaagcggatggagtctCcatcctcaatgtgtaagtca	11	11	3	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:44030378C>G	ENST00000292147.2	-	3	416	c.350G>C	c.(349-351)gGa>gCa	p.G117A	ZNF575_ENST00000458714.2_5'UTR|ETHE1_ENST00000600651.1_Missense_Mutation_p.G117A	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	117					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				GATGGAGTCTCCATCCTCAAT	0.612																																						ENST00000600651.1																			0				central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(349-351)gGa>gCa		ethylmalonic encephalopathy 1							70	67	68					19																	44030378		2203	4300	6503	SO:0001583	missense	23474					mitochondrial matrix|nucleus	hydrolase activity|metal ion binding	g.chr19:44030378C>G		CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.350G>C	19.37:g.44030378C>G	ENSP00000292147:p.Gly117Ala		Somatic				ETHE1_ENST00000292147.2_Missense_Mutation_p.G117A|ZNF575_ENST00000458714.2_5'UTR	p.G117A			WXS	Illumina GAIIx	Phase_I	O95571	ETHE1_HUMAN			3	373	-		Prostate(69;0.0153)	117					Q96HR0|Q9H001	Missense_Mutation	SNP	ENST00000292147.2	37	c.350G>C	CCDS12622.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383335	0.82792	.	.	ENSG00000105755	ENST00000292147	D	0.97642	-4.47	4.33	4.33	0.51752	Beta-lactamase-like (2);	0.116156	0.56097	D	0.000022	D	0.98292	0.9434	M	0.93898	3.47	0.80722	D	1	P;D	0.60160	0.724;0.987	B;P	0.54664	0.446;0.758	D	0.98988	1.0807	10	0.66056	D	0.02	-11.3704	14.7623	0.69614	0.0:1.0:0.0:0.0	.	90;117	B2RCZ7;O95571	.;ETHE1_HUMAN	A	117	ENSP00000292147:G117A	ENSP00000292147:G117A	G	-	2	0	ETHE1	48722218	0.996000	0.38824	0.756000	0.31282	0.997000	0.91878	4.526000	0.60566	2.414000	0.81942	0.555000	0.69702	GGA		0.612	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463184.1	NM_014297		4	104	0	0	0	1	0	4	104					G	44030378	C	G	44030378	3	3	37	1	0	0	0	0	1	0	0	0	5274	855	30	2	434	2	ETHE1	19	44030378	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	761954	44030378	15098605	321	3685										
ZNF227	7770	broad.mit.edu	37	chr19	44740795	44740795	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttcgagtccacctgggtgttCacaccagggaaaaactcttt	9	11	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:44740795C>T	ENST00000313040.7	+	6	2417	c.2212C>T	c.(2212-2214)Cac>Tac	p.H738Y	ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000391961.2_Missense_Mutation_p.H687Y|ZNF227_ENST00000589005.1_Missense_Mutation_p.H687Y	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	738					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)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CCTGGGTGTTCACACCAGGGA	0.498																																						ENST00000313040.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24						c.(2212-2214)Cac>Tac		zinc finger protein 227							84	87	86					19																	44740795		2203	4300	6503	SO:0001583	missense	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44740795C>T	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.2212C>T	19.37:g.44740795C>T	ENSP00000321049:p.His738Tyr		Somatic				ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000391961.2_Missense_Mutation_p.H687Y|ZNF227_ENST00000589005.1_Missense_Mutation_p.H687Y	p.H738Y	NM_182490.1	NP_872296.1	WXS	Illumina GAIIx	Phase_I	Q86WZ6	ZN227_HUMAN			6	2417	+		Prostate(69;0.0435)	738					B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	c.2212C>T	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561851	0.65538	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.67523	-0.27;-0.27	3.92	3.92	0.45320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.86502	0.5948	H	0.95574	3.69	0.80722	D	1	D;D;D;D	0.76494	0.999;0.97;0.996;0.999	D;D;D;D	0.87578	0.998;0.97;0.991;0.998	D	0.90888	0.4759	9	0.87932	D	0	.	15.236	0.73432	0.0:1.0:0.0:0.0	.	659;717;690;738	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	Y	738;695;687;717;377	ENSP00000321049:H738Y;ENSP00000375823:H687Y	ENSP00000321049:H738Y	H	+	1	0	ZNF227	49432635	1.000000	0.71417	0.081000	0.20488	0.983000	0.72400	7.158000	0.77470	2.191000	0.70037	0.563000	0.77884	CAC		0.498	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		5	96	0	0	0	1	0	5	96					T	44740795	C	T	44740795	3	4	37	1	0	0	0	0	1	0	0	0	17796	826	29	3	2226	3	ZNF227	19	44740795	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	710417	44740795	14388188	322	3686										
ZNF296	162979	broad.mit.edu	37	chr19	45575710	45575710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	caggcccaggagcggggcctCcggggcctctgattctgtct	15	14	3	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:45575710C>T	ENST00000303809.2	-	3	791	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	193					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						AGCGGGGCCTCCGGGGCCTCT	0.682																																						ENST00000303809.2																			0				breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						c.(577-579)Gag>Aag		zinc finger protein 296							22	26	25					19																	45575710		2200	4284	6484	SO:0001583	missense	162979				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:45575710C>T	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"Zinc fingers, C2H2-type"	15981	protein-coding gene	gene with protein product		613226	"zinc finger protein 342"	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.577G>A	19.37:g.45575710C>T	ENSP00000302770:p.Glu193Lys		Somatic					p.E193K	NM_145288.1	NP_660331.1	WXS	Illumina GAIIx	Phase_I	Q8WUU4	ZN296_HUMAN			3	791	-			193						Missense_Mutation	SNP	ENST00000303809.2	37	c.577G>A	CCDS12653.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070846	0.76301	.	.	ENSG00000170684	ENST00000303809;ENST00000545481	T	0.05139	3.49	5.53	4.43	0.53597	.	0.368306	0.23450	N	0.048054	T	0.08223	0.0205	L	0.29908	0.895	0.36491	D	0.868454	D	0.53151	0.958	P	0.47528	0.549	T	0.21690	-1.0238	10	0.46703	T	0.11	-34.5745	13.8917	0.63742	0.0:0.8462:0.1538:0.0	.	193	Q8WUU4	ZN296_HUMAN	K	193;169	ENSP00000302770:E193K	ENSP00000302770:E193K	E	-	1	0	ZNF296	50267550	0.000000	0.05858	0.953000	0.39169	0.176000	0.22953	0.726000	0.25984	2.753000	0.94483	0.650000	0.86243	GAG		0.682	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288		4	71	0	0	0	1	0	4	71					T	45575710	C	T	45575710	3	4	37	1	0	0	0	0	1	0	0	0	17843	864	30	3	854	3	ZNF296	19	45575710	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	834915	45575710	13553273	323	3687										
SYMPK	8189	broad.mit.edu	37	chr19	46332275	46332275	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aggccagacaacaggcggatGaggcagtcctcatacttgtc	12	11	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:46332275G>A	ENST00000245934.7	-	14	2182	c.1938C>T	c.(1936-1938)ctC>ctT	p.L646L	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	646					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)		ACAGGCGGATGAGGCAGTCCT	0.652																																						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.(1936-1938)ctC>ctT		symplekin							70	70	70					19																	46332275		2203	4300	6503	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46332275G>A	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.1938C>T	19.37:g.46332275G>A			Somatic					p.L646L	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)	14	2182	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	646					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.1938C>T	CCDS12676.2																																																																																				0.652	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		13	86	0	0	0	1	0	13	86					A	46332275	G	A	46332275	2	1	37	1	0	0	0	0	0	0	0	1	15454	1277	45	3		3	SYMPK	19	46332275	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	756565	46332275	12796708	324	3688										
IL4I1	259307	broad.mit.edu	37	chr19	50393136	50393136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gttgatcttgatggcggcgcGcagcgccgacttgaccgccg	15	13	1	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:50393136G>A	ENST00000391826.2	-	8	1637	c.1495C>T	c.(1495-1497)Cgc>Tgc	p.R499C	IL4I1_ENST00000341114.3_Missense_Mutation_p.R521C|MIR4750_ENST00000584564.1_RNA|IL4I1_ENST00000595948.1_Missense_Mutation_p.R521C	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	499						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	ATGGCGGCGCGCAGCGCCGAC	0.667																																						ENST00000595948.1																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1561-1563)Cgc>Tgc		interleukin 4 induced 1							24	22	23					19																	50393136		2200	4290	6490	SO:0001583	missense	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50393136G>A	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.1495C>T	19.37:g.50393136G>A	ENSP00000375702:p.Arg499Cys		Somatic				IL4I1_ENST00000341114.3_Missense_Mutation_p.R521C|IL4I1_ENST00000391826.2_Missense_Mutation_p.R499C	p.R521C	NM_001258018.1	NP_001244947.1	WXS	Illumina GAIIx	Phase_I	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	10	2181	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	499					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Missense_Mutation	SNP	ENST00000391826.2	37	c.1561C>T	CCDS12787.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626691	0.87560	.	.	ENSG00000104951	ENST00000341114;ENST00000391826	D;D	0.95238	-3.65;-3.65	5.53	3.32	0.38043	Amine oxidase (1);	0.099589	0.64402	D	0.000003	D	0.96700	0.8923	M	0.81942	2.565	0.50313	D	0.999869	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96159	0.9114	10	0.87932	D	0	-60.4748	10.9689	0.47428	0.0:0.0:0.6593:0.3407	.	521;521;499	Q96RQ9-2;Q1WMJ3;Q96RQ9	.;.;OXLA_HUMAN	C	521;499	ENSP00000342557:R521C;ENSP00000375702:R499C	ENSP00000342557:R521C	R	-	1	0	IL4I1	55084948	1.000000	0.71417	0.080000	0.20451	0.306000	0.27790	3.180000	0.50895	0.649000	0.30751	0.561000	0.74099	CGC		0.667	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			10	30	0	0	0	1	0	10	30					A	50393136	G	A	50393136	3	1	37	1	0	0	0	0	1	0	0	0	7706	1087	38	1	212	1	IL4I1	19	50393136	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	4060861	50393136	8735847	325	3689										
ZNF649	65251	broad.mit.edu	37	chr19	52394225	52394225	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	attttctgatgtctaatgagTcctgacttctgtgaacaggg	10	7	3	4			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:52394225T>C	ENST00000354957.3	-	5	1448	c.1164A>G	c.(1162-1164)ggA>ggG	p.G388G	CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000485702.1_5'Flank|ZNF649_ENST00000600738.1_Silent_p.G360G	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GTCTAATGAGTCCTGACTTCT	0.433																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(1162-1164)ggA>ggG		zinc finger protein 649							115	115	115					19																	52394225		2203	4300	6503	SO:0001819	synonymous_variant	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394225T>C	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1164A>G	19.37:g.52394225T>C			Somatic				ZNF649_ENST00000600738.1_Silent_p.G360G|CTC-429C10.2_ENST00000600329.1_RNA	p.G388G	NM_023074.3	NP_075562.2	WXS	Illumina GAIIx	Phase_I	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1448	-		all_neural(266;0.0602)	388					A8MYJ5|B2RDC4|Q9H9N2	Silent	SNP	ENST00000354957.3	37	c.1164A>G	CCDS12843.1																																																																																				0.433	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		14	85	0	0	0	1	0	14	85					C	52394225	T	C	52394225	2	2	37	1	0	0	0	0	0	0	0	1	18079	1654	58	4		4	ZNF649	19	52394225	Silent	SNP	T	TCGA-N9-A4Q7-01A-11D-A28R-08	2001089	52394225	6734758	326	3690										
PPP2R1A	5518	broad.mit.edu	37	chr19	52714679	52714679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctggttcacctcccgcacctCggcctgcggcctcttctccg	9	20	3	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:52714679C>T	ENST00000322088.6	+	4	495	c.437C>T	c.(436-438)tCg>tTg	p.S146L	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S91L|PPP2R1A_ENST00000473455.2_3'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	146	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TCCCGCACCTCGGCCTGCGGC	0.652			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(436-438)tCg>tTg		protein phosphatase 2, regulatory subunit A, alpha							51	54	53					19																	52714679		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52714679C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.437C>T	19.37:g.52714679C>T	ENSP00000324804:p.Ser146Leu		Somatic				PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S91L|PPP2R1A_ENST00000473455.2_3'UTR	p.S146L	NM_014225.5	NP_055040.2	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	4	495	+			146			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.437C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792570	0.90453	.	.	ENSG00000105568	ENST00000423369;ENST00000322088;ENST00000444322	T;T	0.05580	3.42;3.42	4.58	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.52532	D	0.000073	T	0.37489	0.1005	H	0.96460	3.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.951;0.951	T	0.55509	-0.8130	10	0.87932	D	0	-10.9036	15.2851	0.73822	0.0:1.0:0.0:0.0	.	91;146;146	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	L	136;146;91	ENSP00000324804:S146L;ENSP00000415067:S91L	ENSP00000324804:S146L	S	+	2	0	PPP2R1A	57406491	1.000000	0.71417	0.956000	0.39512	0.636000	0.38137	6.833000	0.75334	2.547000	0.85894	0.655000	0.94253	TCG		0.652	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		11	90	0	0	0	1	0	11	90					T	52714679	C	T	52714679	3	4	37	1	0	0	0	0	1	0	0	0	12394	893	31	1	451	1	PPP2R1A	19	52714679	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	320454	52714679	6414304	327	3691										
ZNF610	162963	broad.mit.edu	37	chr19	52869526	52869526	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aatgtggcaaagcttttagaGagtgttcgggacttactacc	11	7	0	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:52869526G>C	ENST00000403906.3	+	6	1351	c.895G>C	c.(895-897)Gag>Cag	p.E299Q	ZNF610_ENST00000601151.1_Missense_Mutation_p.E256Q|ZNF610_ENST00000327920.8_Missense_Mutation_p.E299Q|ZNF610_ENST00000321287.8_Missense_Mutation_p.E299Q	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	299					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)		AGCTTTTAGAGAGTGTTCGGG	0.398																																						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.(766-768)Gag>Cag		zinc finger protein 610							53	49	50					19																	52869526		2203	4300	6503	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52869526G>C	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.895G>C	19.37:g.52869526G>C	ENSP00000383922:p.Glu299Gln		Somatic				ZNF610_ENST00000327920.8_Missense_Mutation_p.E299Q|ZNF610_ENST00000321287.8_Missense_Mutation_p.E299Q|ZNF610_ENST00000403906.3_Missense_Mutation_p.E299Q	p.E256Q	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	1218	+			299					A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.766G>C	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	G	2.080	-0.410974	0.04799	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.07444	3.19;3.19	1.41	-1.98	0.07480	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01523	0.0049	N	0.00395	-1.55	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.16289	0.009;0.015	T	0.46162	-0.9211	9	0.02654	T	1	.	4.4026	0.11393	0.2064:0.4918:0.3018:0.0	.	256;299	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	Q	299;256;299	ENSP00000383922:E299Q;ENSP00000327597:E299Q	ENSP00000324441:E256Q	E	+	1	0	ZNF610	57561338	0.000000	0.05858	0.000000	0.03702	0.233000	0.25261	-6.643000	0.00058	-0.071000	0.12886	0.313000	0.20887	GAG		0.398	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		7	30	0	0	0	1	0	7	30					C	52869526	G	C	52869526	3	2	37	1	0	0	0	0	1	0	0	0	18051	943	33	2	909	2	ZNF610	19	52869526	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	154847	52869526	6259457	328	3692										
CPXM1	56265	broad.mit.edu	37	chr20	2777179	2777179	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ccccatgccagtacccagctCatgctccccaggcttgtccg	8	19	1	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:2777179C>T	ENST00000380605.2	-	8	1103	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	347					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTACCCAGCTCATGCTCCCCA	0.612																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1039-1041)Gag>Aag		carboxypeptidase X (M14 family), member 1							168	161	163					20																	2777179		2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2777179C>T	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"carboxypeptidase-like protein X1"	609555	"carboxypeptidase X (M14 family)"	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1039G>A	20.37:g.2777179C>T	ENSP00000369979:p.Glu347Lys		Somatic					p.E347K	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	WXS	Illumina GAIIx	Phase_I	Q96SM3	CPXM1_HUMAN			8	1103	-			347					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1039G>A	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958823	0.92726	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.10860	2.83	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.80422	2.495	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.995	T	0.05699	-1.0869	10	0.66056	D	0.02	-34.914	16.7686	0.85531	0.0:1.0:0.0:0.0	.	347;347	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	K	347;43	ENSP00000369979:E347K	ENSP00000369979:E347K	E	-	1	0	CPXM1	2725179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.935000	0.70145	2.825000	0.97269	0.655000	0.94253	GAG		0.612	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		32	137	0	0	0	1	0	32	137					T	2777179	C	T	2777179	3	4	37	1	0	0	0	0	1	0	0	0	3839	835	29	3	1193	3	CPXM1	20	2777179	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08		2777179	60248341	329	3693										
VPS16	64601	broad.mit.edu	37	chr20	2844651	2844651	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cgagccattaaccagaagctGggggacacgcctggtgtctc	13	12	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:2844651G>T	ENST00000380445.3	+	16	1605	c.1533G>T	c.(1531-1533)ctG>ctT	p.L511L	PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Silent_p.L367L|VPS16_ENST00000380443.3_Silent_p.L197L	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	511					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						ACCAGAAGCTGGGGGACACGC	0.582																																						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.(1531-1533)ctG>ctT		vacuolar protein sorting 16 homolog (S. cerevisiae)							95	91	92					20																	2844651		2203	4300	6503	SO:0001819	synonymous_variant	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2844651G>T	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1533G>T	20.37:g.2844651G>T			Somatic				VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Silent_p.L367L|VPS16_ENST00000380443.3_Silent_p.L197L	p.L511L	NM_022575.2	NP_072097.2	WXS	Illumina GAIIx	Phase_I	Q9H269	VPS16_HUMAN			16	1605	+			511					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	ENST00000380445.3	37	c.1533G>T	CCDS13036.1																																																																																				0.582	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		5	135	1	0	1.23904e-05	1	1.28943e-05	5	135					T	2844651	G	T	2844651	2	4	37	1	0	0	0	0	0	0	0	1	17208	1335	47	5		5	VPS16	20	2844651	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	67472	2844651	60180869	330	3694										
TASP1	55617	broad.mit.edu	37	chr20	13463939	13463939	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cctcagcttgtaaagcatgtGaacattctctagccagtatg	8	10	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:13463939G>C	ENST00000337743.4	-	11	1040	c.920C>G	c.(919-921)tCa>tGa	p.S307*	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Missense_Mutation_p.H110D	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	307					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						TAAAGCATGTGAACATTCTCT	0.418																																						ENST00000337743.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						c.(919-921)tCa>tGa		taspase, threonine aspartase, 1							169	157	161					20																	13463939		2203	4300	6503	SO:0001587	stop_gained	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13463939G>C	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"chromosome 20 open reading frame 13"	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.920C>G	20.37:g.13463939G>C	ENSP00000338624:p.Ser307*		Somatic				TASP1_ENST00000539805.1_Missense_Mutation_p.H110D|TASP1_ENST00000480436.1_5'UTR	p.S307*	NM_017714.2	NP_060184.2	WXS	Illumina GAIIx	Phase_I	Q9H6P5	TASP1_HUMAN			11	1040	-			307					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Nonsense_Mutation	SNP	ENST00000337743.4	37	c.920C>G	CCDS13116.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.528204|5.528204	0.96446|0.96446	.|.	.|.	ENSG00000089123|ENSG00000089123	ENST00000539805|ENST00000378157;ENST00000337743;ENST00000455532	.|.	.|.	.|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.144593	.|0.52532	.|D	.|0.000066	T|.	0.78123|.	0.4234|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.77504|.	-0.2563|.	5|.	0.72032|0.52906	D|T	0.01|0.07	-2.3471|-2.3471	19.8454|19.8454	0.96706|0.96706	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	110|284;307;284	.|.	ENSP00000444062:H110D|ENSP00000338624:S307X	H|S	-|-	1|2	0|0	TASP1|TASP1	13411939|13411939	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	8.792000|8.792000	0.91856|0.91856	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	CAC|TCA		0.418	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714		9	107	0	0	0	1	0	9	107					C	13463939	G	C	13463939	4	2	37	1	0	0	0	0	0	1	0	0	15604	1294	45	2	358	2	TASP1	20	13463939	Nonsense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	10619288	13463939	49561581	331	3695										
SEC23B	10483	broad.mit.edu	37	chr20	18534978	18534978	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tggatgatgctcaagaaattCtgcaagcacgcttcccgatg	10	10	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:18534978C>G	ENST00000336714.3	+	18	2524	c.2092C>G	c.(2092-2094)Ctg>Gtg	p.L698V	SEC23B_ENST00000377475.3_Missense_Mutation_p.L698V|SEC23B_ENST00000377465.1_Missense_Mutation_p.L698V|SEC23B_ENST00000262544.2_Missense_Mutation_p.L698V	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)	698					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						TCAAGAAATTCTGCAAGCACG	0.512																																						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.(2092-2094)Ctg>Gtg		Sec23 homolog B (S. cerevisiae)							167	136	146					20																	18534978		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.chr20:18534978C>G	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.2092C>G	20.37:g.18534978C>G	ENSP00000338844:p.Leu698Val		Somatic				SEC23B_ENST00000377475.3_Missense_Mutation_p.L698V|SEC23B_ENST00000377465.1_Missense_Mutation_p.L698V|SEC23B_ENST00000262544.2_Missense_Mutation_p.L698V	p.L698V	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			18	2524	+			698					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.2092C>G	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211941	0.58452	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465;ENST00000422877	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	4.69	3.74	0.42951	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	M	0.68728	2.09	0.80722	D	1	P;P	0.51240	0.943;0.859	P;P	0.59221	0.854;0.781	T	0.61652	-0.7019	10	0.51188	T	0.08	-13.5299	6.0167	0.19607	0.0:0.7038:0.0:0.2962	.	680;698	B4DJW8;Q15437	.;SC23B_HUMAN	V	698;698;698;698;177	ENSP00000338844:L698V;ENSP00000262544:L698V;ENSP00000366695:L698V;ENSP00000366685:L698V;ENSP00000409882:L177V	ENSP00000262544:L698V	L	+	1	2	SEC23B	18482978	0.984000	0.35163	1.000000	0.80357	0.979000	0.70002	0.585000	0.23879	1.322000	0.45245	0.655000	0.94253	CTG		0.512	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			4	97	0	0	0	1	0	4	97					G	18534978	C	G	18534978	3	3	37	1	0	0	0	0	1	0	0	0	14007	912	32	2	2158	2	SEC23B	20	18534978	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	5071039	18534978	44490542	332	3696										
RIN2	54453	broad.mit.edu	37	chr20	19956199	19956199	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ttcagctccttcatgaccccGgagaagcggatggtccgcag	12	13	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:19956199G>A	ENST00000255006.6	+	8	1826	c.1677G>A	c.(1675-1677)ccG>ccA	p.P559P	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	510					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCATGACCCCGGAGAAGCGGA	0.572																																						ENST00000255006.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.(1675-1677)ccG>ccA		Ras and Rab interactor 2							88	95	92					20																	19956199		2007	4173	6180	SO:0001819	synonymous_variant	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19956199G>A	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1677G>A	20.37:g.19956199G>A			Somatic				RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	p.P559P	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	WXS	Illumina GAIIx	Phase_I	Q8WYP3	RIN2_HUMAN			8	1826	+			510					Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000255006.6	37	c.1677G>A	CCDS56182.1																																																																																				0.572	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			16	136	0	0	0	1	0	16	136					A	19956199	G	A	19956199	2	1	37	1	0	0	0	0	0	0	0	1	13387	1103	39	1		1	RIN2	20	19956199	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	1421221	19956199	43069321	333	3697										
TMEM90B	79953	broad.mit.edu	37	chr20	24523840	24523840	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aaacttgatggccgagagcaGagatggtctggtgtctgttt	14	6	2	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:24523840G>C	ENST00000376862.3	+	2	740	c.107G>C	c.(106-108)aGa>aCa	p.R36T		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	36					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)	p.R36T(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GCCGAGAGCAGAGATGGTCTG	0.562																																						ENST00000376862.3																			1	Substitution - Missense(1)	p.R36T(1)	lung(1)	breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(106-108)aGa>aCa		synapse differentiation inducing 1							77	79	78					20																	24523840		2203	4300	6503	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24523840G>C	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.107G>C	20.37:g.24523840G>C	ENSP00000366058:p.Arg36Thr		Somatic					p.R36T	NM_024893.1	NP_079169.1	WXS	Illumina GAIIx	Phase_I	Q9H7V2	SYNG1_HUMAN			2	740	+			36					Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.107G>C	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049977	0.36181	.	.	ENSG00000101463	ENST00000376862	D	0.90563	-2.69	5.95	5.95	0.96441	.	0.162448	0.51477	D	0.000097	D	0.88709	0.6510	L	0.57536	1.79	0.40553	D	0.981135	B	0.27229	0.172	B	0.21917	0.037	D	0.85919	0.1445	10	0.46703	T	0.11	-28.1544	15.8713	0.79122	0.0:0.0:1.0:0.0	.	36	Q9H7V2	SYNG1_HUMAN	T	36	ENSP00000366058:R36T	ENSP00000366058:R36T	R	+	2	0	SYNDIG1	24471840	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	4.115000	0.57865	2.822000	0.97130	0.655000	0.94253	AGA		0.562	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		7	76	0	0	0	1	0	7	76					C	24523840	G	C	24523840	3	2	37	1	0	0	0	0	1	0	0	0	16234	942	33	2	109	2	TMEM90B	20	24523840	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	4567641	24523840	38501680	334	3698										
EIF2S2	8894	broad.mit.edu	37	chr20	32677668	32677668	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	agtcgtgtgtccttctgcagGattgtgtccggtgatcggca	14	9	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:32677668G>A	ENST00000374980.2	-	9	1091	c.870C>T	c.(868-870)atC>atT	p.I290I		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	290					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CCTTCTGCAGGATTGTGTCCG	0.473																																						ENST00000374980.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						c.(868-870)atC>atT		eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa							147	124	132					20																	32677668		2203	4300	6503	SO:0001819	synonymous_variant	8894					cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	g.chr20:32677668G>A	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	3266	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 67"	603908	"eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.870C>T	20.37:g.32677668G>A			Somatic					p.I290I	NM_003908.3	NP_003899.2	WXS	Illumina GAIIx	Phase_I	P20042	IF2B_HUMAN			9	1091	-			290					Q9BVU0|Q9UJE4	Silent	SNP	ENST00000374980.2	37	c.870C>T	CCDS13231.1																																																																																				0.473	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908		4	81	0	0	0	1	0	4	81					A	32677668	G	A	32677668	2	1	37	1	0	0	0	0	0	0	0	1	5012	1164	41	3		3	EIF2S2	20	32677668	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	8153828	32677668	30347852	335	3699										
RALGAPB	57148	broad.mit.edu	37	chr20	37146598	37146598	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tatttgatgcagcatttgttCactgtaaacttcataatggg	8	6	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:37146598C>T	ENST00000262879.6	+	9	1656	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	RALGAPB_ENST00000537204.1_Missense_Mutation_p.H458Y|RALGAPB_ENST00000397040.1_Missense_Mutation_p.H458Y|MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397042.3_Missense_Mutation_p.H458Y|RALGAPB_ENST00000397038.1_Missense_Mutation_p.H236Y			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	458					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						AGCATTTGTTCACTGTAAACT	0.388																																						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.(1372-1374)Cac>Tac		Ral GTPase activating protein, beta subunit (non-catalytic)							118	113	114					20																	37146598		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37146598C>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.1372C>T	20.37:g.37146598C>T	ENSP00000262879:p.His458Tyr		Somatic				RALGAPB_ENST00000397038.1_Missense_Mutation_p.H236Y|RALGAPB_ENST00000537204.1_Missense_Mutation_p.H458Y|RALGAPB_ENST00000397040.1_Missense_Mutation_p.H458Y|RALGAPB_ENST00000397042.3_Missense_Mutation_p.H458Y	p.H458Y			WXS	Illumina GAIIx	Phase_I	Q86X10	RLGPB_HUMAN			9	1656	+			458					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.1372C>T	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.710211	0.68730	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000537204;ENST00000397040;ENST00000438490	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.70736	0.3258	L	0.47716	1.5	0.58432	D	0.999999	D;D;D;D;D	0.61080	0.978;0.989;0.978;0.978;0.978	P;D;P;P;P	0.70487	0.647;0.969;0.647;0.731;0.731	T	0.62666	-0.6806	9	0.02654	T	1	.	19.6909	0.96000	0.0:1.0:0.0:0.0	.	458;286;458;458;458	B4E2E8;A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;.;RLGPB_HUMAN	Y	458;458;458;236;458;458;286	.	ENSP00000262879:H458Y	H	+	1	0	RALGAPB	36580012	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.920000	0.70017	2.668000	0.90789	0.650000	0.86243	CAC		0.388	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		9	70	0	0	0	1	0	9	70					T	37146598	C	T	37146598	3	4	37	1	0	0	0	0	1	0	0	0	13030	826	29	3	1402	3	RALGAPB	20	37146598	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	4468930	37146598	25878922	336	3700										
DBNDD2	55861	broad.mit.edu	37	chr20	44037201	44037201	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	acattttacagccagagacaGagtttgtctttcctctgtcc	7	11	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:44037201G>C	ENST00000372720.3	+	2	619	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	DBNDD2_ENST00000372712.2_Missense_Mutation_p.E32Q|TP53TG5_ENST00000494455.1_5'Flank|DBNDD2_ENST00000372722.3_Missense_Mutation_p.E32Q|DBNDD2_ENST00000372717.1_Missense_Mutation_p.E32Q|DBNDD2_ENST00000360981.4_Missense_Mutation_p.E32Q|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000357275.2_Missense_Mutation_p.E32Q|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372710.3_Missense_Mutation_p.E134Q|DBNDD2_ENST00000372723.3_Missense_Mutation_p.E32Q	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	130					negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)				breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				GCCAGAGACAGAGTTTGTCTT	0.567																																						ENST00000372712.2																			0				breast(1)|lung(2)	3						c.(94-96)Gag>Cag		dysbindin (dystrobrevin binding protein 1) domain containing 2							80	82	82					20																	44037201		1942	4130	6072	SO:0001583	missense	55861				negative regulation of protein kinase activity	cytoplasm	protein binding	g.chr20:44037201G>C	AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"chromosome 20 open reading frame 35"	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.388G>C	20.37:g.44037201G>C	ENSP00000361805:p.Glu130Gln		Somatic				DBNDD2_ENST00000372710.3_Missense_Mutation_p.E134Q|DBNDD2_ENST00000372717.1_Missense_Mutation_p.E32Q|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000360981.4_Missense_Mutation_p.E32Q|DBNDD2_ENST00000357275.2_Missense_Mutation_p.E32Q|DBNDD2_ENST00000372722.3_Missense_Mutation_p.E32Q|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372723.3_Missense_Mutation_p.E32Q|DBNDD2_ENST00000372720.3_Missense_Mutation_p.E130Q	p.E32Q			WXS	Illumina GAIIx	Phase_I	Q9BQY9	DBND2_HUMAN			2	675	+		Myeloproliferative disorder(115;0.0122)	130					Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	Missense_Mutation	SNP	ENST00000372720.3	37	c.94G>C	CCDS56193.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.879107|4.879107	0.91740|0.91740	.|.	.|.	ENSG00000244274|ENSG00000244274	ENST00000372723;ENST00000372722;ENST00000357275;ENST00000372720;ENST00000372717;ENST00000360981;ENST00000372712;ENST00000372710|ENST00000443296	T;T;T;T;T;T;T;T|.	0.41065|.	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01|.	5.61|5.61	4.66|4.66	0.58398|0.58398	.|.	0.124966|.	0.53938|.	D|.	0.000042|.	T|T	0.69196|0.69196	0.3084|0.3084	M|M	0.77313|0.77313	2.365|2.365	0.35749|0.35749	D|D	0.819307|0.819307	P;D|.	0.53619|.	0.905;0.961|.	P;P|.	0.54499|.	0.754;0.726|.	T|T	0.77011|0.77011	-0.2746|-0.2746	10|5	0.87932|.	D|.	0|.	.|.	12.012|12.012	0.53293|0.53293	0.0802:0.0:0.9198:0.0|0.0802:0.0:0.9198:0.0	.|.	32;130|.	Q5QPV4;Q9BQY9|.	.;DBND2_HUMAN|.	Q|H	32;32;32;130;32;32;32;134|91	ENSP00000361808:E32Q;ENSP00000361807:E32Q;ENSP00000349822:E32Q;ENSP00000361805:E130Q;ENSP00000361802:E32Q;ENSP00000354250:E32Q;ENSP00000361797:E32Q;ENSP00000361795:E134Q|.	ENSP00000349822:E32Q|.	E|Q	+|+	1|3	0|2	DBNDD2|DBNDD2	43470615|43470615	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	7.834000|7.834000	0.86773|0.86773	1.368000|1.368000	0.46115|0.46115	0.655000|0.655000	0.94253|0.94253	GAG|CAG		0.567	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079438.1	NM_018478		9	87	0	0	0	1	0	9	87					C	44037201	G	C	44037201	3	2	37	1	0	0	0	0	1	0	0	0	4256	943	33	2	96	2	DBNDD2	20	44037201	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	6890603	44037201	18988319	337	3701										
EYA2	2139	broad.mit.edu	37	chr20	45718018	45718018	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cggcaggggacaatgagattGaggtaatccaaaggggctct	15	7	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:45718018G>C	ENST00000327619.5	+	8	1176	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	EYA2_ENST00000317304.6_Missense_Mutation_p.E268Q|EYA2_ENST00000357410.3_Missense_Mutation_p.E268Q	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	268					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CAATGAGATTGAGGTAATCCA	0.587																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(802-804)Gag>Cag		eyes absent homolog 2 (Drosophila)							44	47	46					20																	45718018		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.chr20:45718018G>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.802G>C	20.37:g.45718018G>C	ENSP00000333640:p.Glu268Gln		Somatic				EYA2_ENST00000357410.3_Missense_Mutation_p.E268Q|EYA2_ENST00000317304.6_Missense_Mutation_p.E268Q	p.E268Q	NM_005244.4	NP_005235.3	WXS	Illumina GAIIx	Phase_I	O00167	EYA2_HUMAN			8	1176	+		Myeloproliferative disorder(115;0.0241)	268					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.802G>C	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854810	0.51376	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	6.03	6.03	0.97812	EYA (1);	0.000000	0.85682	D	0.000000	D	0.93893	0.8046	M	0.86864	2.845	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.87578	0.982;0.998;0.995;0.995	D	0.93864	0.7156	10	0.87932	D	0	-4.1043	20.5568	0.99304	0.0:0.0:1.0:0.0	.	268;268;268;268	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	Q	268;268;268;268;139	ENSP00000333640:E268Q;ENSP00000349986:E268Q;ENSP00000321590:E268Q;ENSP00000395427:E139Q	ENSP00000321590:E268Q	E	+	1	0	EYA2	45151425	1.000000	0.71417	0.995000	0.50966	0.771000	0.43674	9.007000	0.93597	2.861000	0.98227	0.655000	0.94253	GAG		0.587	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		4	63	0	0	0	1	0	4	63					C	45718018	G	C	45718018	3	2	37	1	0	0	0	0	1	0	0	0	5331	1291	45	2	828	2	EYA2	20	45718018	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	1680817	45718018	17307502	338	3702										
SULF2	55959	broad.mit.edu	37	chr20	46293965	46293965	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gattttgtgacagtcacattCttctggccgctttttcttca	7	10	5	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:46293965C>T	ENST00000359930.4	-	14	2826	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	SULF2_ENST00000467815.1_Missense_Mutation_p.E659K|SULF2_ENST00000361612.4_Missense_Mutation_p.E659K|SULF2_ENST00000484875.1_Missense_Mutation_p.E659K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	659					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CAGTCACATTCTTCTGGCCGC	0.507																																						ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1975-1977)Gaa>Aaa		sulfatase 2							292	272	278					20																	46293965		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46293965C>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1975G>A	20.37:g.46293965C>T	ENSP00000353007:p.Glu659Lys		Somatic				SULF2_ENST00000467815.1_Missense_Mutation_p.E659K|SULF2_ENST00000484875.1_Missense_Mutation_p.E659K|SULF2_ENST00000361612.4_Missense_Mutation_p.E659K	p.E659K	NM_018837.3	NP_061325.1	WXS	Illumina GAIIx	Phase_I	Q8IWU5	SULF2_HUMAN			14	2826	-			659					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.1975G>A	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677445	0.88445	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815	D;D;D;D	0.99070	-5.39;-5.39;-5.39;-5.39	5.15	5.15	0.70609	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.046888	0.85682	D	0.000000	D	0.98682	0.9558	M	0.78456	2.415	0.49213	D	0.99976	P;P	0.51147	0.852;0.942	B;P	0.48334	0.392;0.574	D	0.99517	1.0957	10	0.46703	T	0.11	-15.6299	18.618	0.91310	0.0:1.0:0.0:0.0	.	659;659	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	K	659;659;659;78;659	ENSP00000353007:E659K;ENSP00000418290:E659K;ENSP00000354662:E659K;ENSP00000418442:E659K	ENSP00000353007:E659K	E	-	1	0	SULF2	45727372	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.050000	0.71063	2.395000	0.81488	0.462000	0.41574	GAA		0.507	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		47	154	0	0	0	1	0	47	154					T	46293965	C	T	46293965	3	4	37	1	0	0	0	0	1	0	0	0	15386	922	32	3	669	3	SULF2	20	46293965	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	575947	46293965	16731555	339	3703										
BRWD1	54014	broad.mit.edu	37	chr21	40636563	40636563	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	taagacataattattagaatCtctaataagtggtcgatagt	7	4	1	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:40636563C>A	ENST00000333229.2	-	17	2035	c.1708G>T	c.(1708-1710)Gat>Tat	p.D570Y	BRWD1_ENST00000342449.3_Missense_Mutation_p.D570Y|BRWD1_ENST00000380800.3_Missense_Mutation_p.D570Y	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	570					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)				TTATTAGAATCTCTAATAAGT	0.373																																					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.(1708-1710)Gat>Tat		bromodomain and WD repeat domain containing 1							54	55	55					21																	40636563		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40636563C>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.1708G>T	21.37:g.40636563C>A	ENSP00000330753:p.Asp570Tyr		Somatic				BRWD1_ENST00000333229.2_Missense_Mutation_p.D570Y|BRWD1_ENST00000380800.3_Missense_Mutation_p.D570Y	p.D570Y	NM_033656.3	NP_387505.1	WXS	Illumina GAIIx	Phase_I	Q9NSI6	BRWD1_HUMAN			17	1786	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	570					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.1708G>T	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.497615|4.497615	0.85069|0.85069	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800|ENST00000455867	T;T;T|T	0.48522|0.39787	0.81;0.81;0.81|1.06	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.74152|0.74152	0.3679|0.3679	M|M	0.92169|0.92169	3.28|3.28	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|.	0.997;1.0;1.0;0.999|.	T|T	0.81189|0.81189	-0.1046|-0.1046	10|7	0.87932|0.87932	D|D	0|0	-12.4462|-12.4462	19.0855|19.0855	0.93201|0.93201	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	281;281;570;570|.	Q5R2U6;Q5R2U8;Q9NSI6-2;Q9NSI6|.	.;.;.;BRWD1_HUMAN|.	Y|I	570|281	ENSP00000330753:D570Y;ENSP00000344333:D570Y;ENSP00000370178:D570Y|ENSP00000389882:R281I	ENSP00000330753:D570Y|ENSP00000398900:R281I	D|R	-|-	1|2	0|0	BRWD1|BRWD1	39558433|39558433	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.395000|7.395000	0.79876|0.79876	2.526000|2.526000	0.85167|0.85167	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.373	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		6	22	1	0	0.00198382	1	0.0020305	6	22					A	40636563	C	A	40636563	3	1	37	1	0	0	0	0	1	0	0	0	1527	913	32	2	5597	2	BRWD1	21	40636563	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08		40636563	7493332	340	3704										
PRDM15	63977	broad.mit.edu	37	chr21	43298817	43298817	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ccatcaccaggactcagcttCtctaaacgcggggttggggg	13	12	3	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:43298817C>G	ENST00000269844.3	-	3	510	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q	PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000398548.1_Intron|AP001619.2_ENST00000432411.1_RNA|PRDM15_ENST00000538201.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	134					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						GACTCAGCTTCTCTAAACGCG	0.642																																						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.(400-402)Gaa>Caa		PR domain containing 15							7	10	9					21																	43298817		2064	4149	6213	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43298817C>G	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.400G>C	21.37:g.43298817C>G	ENSP00000269844:p.Glu134Gln		Somatic				PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000398548.1_Intron	p.E134Q	NM_022115.3	NP_071398.3	WXS	Illumina GAIIx	Phase_I	P57071	PRD15_HUMAN			3	510	-			134					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.400G>C	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000479	0.35320	.	.	ENSG00000141956	ENST00000269844	T	0.10477	2.87	1.67	-2.42	0.06542	.	.	.	.	.	T	0.04815	0.0130	N	0.08118	0	0.09310	N	0.999996	B	0.20261	0.043	B	0.08055	0.003	T	0.36720	-0.9736	9	0.87932	D	0	.	5.8091	0.18456	0.0:0.3356:0.0:0.6644	.	134	P57071	PRD15_HUMAN	Q	134	ENSP00000269844:E134Q	ENSP00000269844:E134Q	E	-	1	0	PRDM15	42171886	0.000000	0.05858	0.000000	0.03702	0.622000	0.37654	0.258000	0.18387	-0.770000	0.04614	0.289000	0.19496	GAA		0.642	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		3	13	0	0	0	1	0	3	13					G	43298817	C	G	43298817	3	3	37	1	0	0	0	0	1	0	0	0	12468	922	32	2	4239	2	PRDM15	21	43298817	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	2662254	43298817	4831078	341	3705										
PCNT	5116	broad.mit.edu	37	chr21	47831205	47831205	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aggagaaagcagaggaaattGaacaactccatgaagtcatt	10	6	1	4			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:47831205G>C	ENST00000359568.5	+	28	5325	c.5218G>C	c.(5218-5220)Gaa>Caa	p.E1740Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1740					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)					AGAGGAAATTGAACAACTCCA	0.468																																						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.(5218-5220)Gaa>Caa		pericentrin							86	97	93					21																	47831205		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47831205G>C	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5218G>C	21.37:g.47831205G>C	ENSP00000352572:p.Glu1740Gln		Somatic				PCNT_ENST00000480896.1_3'UTR	p.E1740Q	NM_006031.5	NP_006022.3	WXS	Illumina GAIIx	Phase_I	O95613	PCNT_HUMAN			28	5325	+	Breast(49;0.112)		1740					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.5218G>C	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189804	0.57909	.	.	ENSG00000160299	ENST00000359568	T	0.02258	4.37	5.51	5.51	0.81932	.	0.000000	0.34338	N	0.004053	T	0.13713	0.0332	M	0.82630	2.6	0.39922	D	0.974168	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.04915	-1.0918	10	0.27785	T	0.31	.	16.9111	0.86140	0.0:0.0:1.0:0.0	.	1622;1740	O95613-2;O95613	.;PCNT_HUMAN	Q	1740	ENSP00000352572:E1740Q	ENSP00000352572:E1740Q	E	+	1	0	PCNT	46655633	1.000000	0.71417	0.383000	0.26132	0.027000	0.11550	7.708000	0.84633	2.589000	0.87451	0.655000	0.94253	GAA		0.468	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		14	95	0	0	0	1	0	14	95					C	47831205	G	C	47831205	3	2	37	1	0	0	0	0	1	0	0	0	11599	1291	45	2	5328	2	PCNT	21	47831205	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	4532388	47831205	298690	342	3706			1	4		3	3	451	G		1.44581e-05
PCNT	5116	broad.mit.edu	37	chr21	47831535	47831535	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ccctcagggaggctgaggtcGaagacatggcctcccggatc	14	13	1	2	rs375046076		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:47831535G>A	ENST00000359568.5	+	28	5655	c.5548G>A	c.(5548-5550)Gaa>Aaa	p.E1850K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1850					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)					GGCTGAGGTCGAAGACATGGC	0.617																																						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.(5548-5550)Gaa>Aaa		pericentrin		G	LYS/GLU	0,4404		0,0,2202	29	34	32		5548	-2.4	0	21		32	1,8595		0,1,4297	no	missense	PCNT	NM_006031.5	56	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	1850/3337	47831535	1,12999	2202	4298	6500	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47831535G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5548G>A	21.37:g.47831535G>A	ENSP00000352572:p.Glu1850Lys		Somatic				PCNT_ENST00000480896.1_3'UTR	p.E1850K	NM_006031.5	NP_006022.3	WXS	Illumina GAIIx	Phase_I	O95613	PCNT_HUMAN			28	5655	+	Breast(49;0.112)		1850					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.5548G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	3.045	-0.196709	0.06259	0.0	1.16E-4	ENSG00000160299	ENST00000359568	T	0.01572	4.76	5.79	-2.41	0.06562	.	0.827186	0.09856	N	0.746954	T	0.01661	0.0053	N	0.24115	0.695	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.001	T	0.42865	-0.9426	10	0.32370	T	0.25	.	13.925	0.63958	0.1477:0.6371:0.2152:0.0	.	1732;1850	O95613-2;O95613	.;PCNT_HUMAN	K	1850	ENSP00000352572:E1850K	ENSP00000352572:E1850K	E	+	1	0	PCNT	46655963	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.716000	0.04991	-0.343000	0.08351	-0.778000	0.03378	GAA		0.617	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		7	60	0	0	0	1	0	7	60					A	47831535	G	A	47831535	3	1	37	1	0	0	0	0	1	0	0	0	11599	1059	37	1	5658	1	PCNT	21	47831535	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	330	47831535	298360	343	3707			1	4		3	3	451	G		1.44581e-05
PCNT	5116	broad.mit.edu	37	chr21	47831655	47831655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ggaaggcggcccactctgccGagctggaggccgtcctgttg	16	13	1	0	rs201631915		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:47831655G>A	ENST00000359568.5	+	28	5775	c.5668G>A	c.(5668-5670)Gag>Aag	p.E1890K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1890					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)					CCACTCTGCCGAGCTGGAGGC	0.672																																						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.(5668-5670)Gag>Aag		pericentrin							14	16	15					21																	47831655		2131	4202	6333	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47831655G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5668G>A	21.37:g.47831655G>A	ENSP00000352572:p.Glu1890Lys		Somatic				PCNT_ENST00000480896.1_3'UTR	p.E1890K	NM_006031.5	NP_006022.3	WXS	Illumina GAIIx	Phase_I	O95613	PCNT_HUMAN			28	5775	+	Breast(49;0.112)		1890					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.5668G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304960	0.40795	.	.	ENSG00000160299	ENST00000359568	T	0.01871	4.59	5.8	3.83	0.44106	.	0.239759	0.21684	N	0.070666	T	0.03959	0.0111	L	0.36672	1.1	0.26004	N	0.982073	D;D	0.62365	0.99;0.991	P;B	0.49332	0.607;0.403	T	0.30534	-0.9975	10	0.66056	D	0.02	.	12.2072	0.54358	0.0:0.4097:0.5903:0.0	.	1772;1890	O95613-2;O95613	.;PCNT_HUMAN	K	1890	ENSP00000352572:E1890K	ENSP00000352572:E1890K	E	+	1	0	PCNT	46656083	0.912000	0.30974	0.735000	0.30896	0.007000	0.05969	1.219000	0.32479	1.353000	0.45828	0.655000	0.94253	GAG		0.672	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		9	35	0	0	0	1	0	9	35					A	47831655	G	A	47831655	3	1	37	1	0	0	0	0	1	0	0	0	11599	1059	37	1	5778	1	PCNT	21	47831655	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	120	47831655	298240	344	3708			1	4		3	3	451	G		1.44581e-05
POTEH	23784	broad.mit.edu	37	chr22	16279214	16279214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ccttccatatctatccagtgCatttaaatttgcttttttct	3	10	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:16279214C>T	ENST00000343518.6	-	4	1060	c.1009G>A	c.(1009-1011)Gca>Aca	p.A337T	RNU6-816P_ENST00000390914.1_RNA|POTEH-AS1_ENST00000422014.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	337								p.A337S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTATCCAGTGCATTTAAATTT	0.313																																						ENST00000343518.6																			1	Substitution - Missense(1)	p.A337S(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.(1009-1011)Gca>Aca		POTE ankyrin domain family, member H																																				SO:0001583	missense	23784							g.chr22:16279214C>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1009G>A	22.37:g.16279214C>T	ENSP00000340610:p.Ala337Thr		Somatic					p.A337T	NM_001136213.1	NP_001129685.1	WXS	Illumina GAIIx	Phase_I	Q6S545	POTEH_HUMAN			4	1060	-			337					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.1009G>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	10.72	1.430681	0.25726	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.56444	0.46	1.38	-1.16	0.09678	Ankyrin repeat-containing domain (4);	0.000000	0.35805	U	0.002961	T	0.48589	0.1508	M	0.66297	2.02	0.09310	N	1	P;P	0.45283	0.798;0.855	P;P	0.48571	0.582;0.473	T	0.44190	-0.9344	10	0.56958	D	0.05	.	1.8902	0.03246	0.3209:0.4527:0.0:0.2264	.	337;300	Q6S545;A6NKF6	POTEH_HUMAN;.	T	300;337	ENSP00000340610:A337T	ENSP00000340610:A337T	A	-	1	0	POTEH	14659214	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	0.044000	0.13992	-0.262000	0.09392	0.175000	0.17021	GCA		0.313	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		11	233	0	0	0	1	0	11	233					T	16279214	C	T	16279214	3	4	37	1	0	0	0	0	1	0	0	0	12276	710	25	3	656	3	POTEH	22	16279214	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08		16279214	35025352	345	3709										
PI4KA	5297	broad.mit.edu	37	chr22	21081548	21081548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gaccgcaggactttcaccccGtactgcgccgtgagagggtg	14	13	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:21081548G>A	ENST00000572273.1	-	41	4967	c.4737C>T	c.(4735-4737)taC>taT	p.Y1579Y	PI4KA_ENST00000414196.3_Silent_p.Y389Y|PI4KA_ENST00000255882.6_Silent_p.Y1637Y|AC007308.6_ENST00000430719.1_RNA			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1579	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				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)			CTTTCACCCCGTACTGCGCCG	0.657																																					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.(4909-4911)taC>taT		phosphatidylinositol 4-kinase, catalytic, alpha							41	42	42					22																	21081548		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.chr22:21081548G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4737C>T	22.37:g.21081548G>A			Somatic				PI4KA_ENST00000572273.1_Silent_p.Y1579Y|PI4KA_ENST00000414196.3_Silent_p.Y389Y	p.Y1637Y	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)		41	4997	-	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)	1579					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.4911C>T																																																																																					0.657	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		15	43	0	0	0	1	0	15	43					A	21081548	G	A	21081548	2	1	37	1	0	0	0	0	0	0	0	1	11882	1140	40	1		1	PI4KA	22	21081548	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	4802334	21081548	30223018	346	3710										
C22orf13	83606	broad.mit.edu	37	chr22	24944010	24944010	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cagcttctgcagggctctctCaaactcactgtcgtccagct	8	15	4	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:24944010C>G	ENST00000407471.3	-	3	350	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	GUCD1_ENST00000490922.1_5'Flank|GUCD1_ENST00000402766.1_Missense_Mutation_p.E54Q|GUCD1_ENST00000404664.3_Missense_Mutation_p.E110Q|GUCD1_ENST00000435822.1_Missense_Mutation_p.E54Q|GUCD1_ENST00000447813.2_Missense_Mutation_p.E54Q	NM_001284251.1	NP_001271180.1	Q96NT3	GUCD1_HUMAN	guanylyl cyclase domain containing 1	54																	AGGGCTCTCTCAAACTCACTG	0.602																																						ENST00000435822.1																			0											c.(160-162)Gag>Cag		guanylyl cyclase domain containing 1							101	80	87					22																	24944010		2203	4300	6503	SO:0001583	missense	83606							g.chr22:24944010C>G	AK054681	CCDS33621.1, CCDS63426.1, CCDS63427.1, CCDS74831.1, CCDS74832.1, CCDS74833.1	22q11.2	2012-11-13	2012-11-13	2012-11-13	ENSG00000138867	ENSG00000138867			14237	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 13"	C22orf13		12477932	Standard	XM_005261761		Approved	MGC1842, LLN4	uc003aah.2	Q96NT3	OTTHUMG00000150728	ENST00000407471.3:c.160G>C	22.37:g.24944010C>G	ENSP00000386076:p.Glu54Gln		Somatic				GUCD1_ENST00000407471.3_Missense_Mutation_p.E54Q|GUCD1_ENST00000402766.1_Missense_Mutation_p.E54Q|GUCD1_ENST00000404664.3_Missense_Mutation_p.E110Q|GUCD1_ENST00000447813.2_Missense_Mutation_p.E54Q	p.E54Q	NM_031444.2	NP_113632.2	WXS	Illumina GAIIx	Phase_I					3	484	-								B5MCB8|B5MCL7|Q96Q79|Q9BU32	Missense_Mutation	SNP	ENST00000407471.3	37	c.160G>C	CCDS33621.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294875	0.40594	.	.	ENSG00000138867	ENST00000407471;ENST00000435822;ENST00000404664;ENST00000447813;ENST00000402766;ENST00000407973	.	.	.	5.13	5.13	0.70059	.	0.253173	0.39407	N	0.001378	T	0.34919	0.0914	N	0.11927	0.2	0.48087	D	0.999585	B;B;B;B;B	0.33583	0.418;0.203;0.022;0.019;0.064	B;B;B;B;B	0.34873	0.191;0.077;0.027;0.026;0.025	T	0.22906	-1.0203	9	0.30854	T	0.27	-33.705	12.7676	0.57401	0.0:0.7195:0.2805:0.0	.	54;110;118;54;54	E9PGZ7;B5MCL7;B4DH83;B4DL90;Q96NT3	.;.;.;.;CV013_HUMAN	Q	54;54;110;54;54;54	.	ENSP00000381297:E54Q	E	-	1	0	C22orf13	23274010	1.000000	0.71417	0.356000	0.25785	0.993000	0.82548	4.372000	0.59530	2.391000	0.81399	0.655000	0.94253	GAG		0.602	GUCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319819.1	NM_031444		5	58	0	0	0	1	0	5	58					G	24944010	C	G	24944010	3	3	37	1	0	0	0	0	1	0	0	0	2137	835	29	2	578	2	C22orf13	22	24944010	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	3862462	24944010	26360556	347	3711										
NEFH	4744	broad.mit.edu	37	chr22	29886561	29886561	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cagaggccaaagccaaggaaGatgacaagaccctctcaaaa	9	11	1	4			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:29886561G>T	ENST00000310624.6	+	4	2965	c.2932G>T	c.(2932-2934)Gat>Tat	p.D978Y		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	984	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGCCAAGGAAGATGACAAGAC	0.512																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(2932-2934)Gat>Tat		neurofilament, heavy polypeptide							84	85	85					22																	29886561		2203	4300	6503	SO:0001583	missense	4744				cell death|nervous system development	neurofilament		g.chr22:29886561G>T		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2932G>T	22.37:g.29886561G>T	ENSP00000311997:p.Asp978Tyr		Somatic					p.D978Y	NM_021076.3	NP_066554.2	WXS	Illumina GAIIx	Phase_I	P12036	NFH_HUMAN			4	2965	+			984			Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	c.2932G>T	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	G	9.717	1.158698	0.21454	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.83506	-1.73	5.51	5.51	0.81932	.	0.388293	0.18142	N	0.150388	T	0.81133	0.4759	L	0.44542	1.39	0.47659	D	0.999489	P	0.47409	0.895	B	0.43575	0.424	D	0.83656	0.0158	10	0.87932	D	0	.	16.9047	0.86123	0.0:0.0:1.0:0.0	.	984	P12036	NFH_HUMAN	Y	929;978	ENSP00000311997:D978Y	ENSP00000311997:D978Y	D	+	1	0	NEFH	28216561	0.998000	0.40836	0.961000	0.40146	0.259000	0.26198	5.638000	0.67861	2.595000	0.87683	0.491000	0.48974	GAT		0.512	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		6	77	1	0	0.00116845	1	0.00120444	6	77					T	29886561	G	T	29886561	3	4	37	1	0	0	0	0	1	0	0	0	10323	942	33	2	2946	2	NEFH	22	29886561	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	4942551	29886561	21418005	348	3712										
ZMAT5	55954	broad.mit.edu	37	chr22	30134374	30134374	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cttctccagccagtcctccaGatggccctcggggagctcag	11	16	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:30134374G>C	ENST00000344318.3	-	5	444	c.328C>G	c.(328-330)Ctg>Gtg	p.L110V	ZMAT5_ENST00000397781.3_Missense_Mutation_p.L110V	NM_001003692.1	NP_001003692.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	110					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CAGTCCTCCAGATGGCCCTCG	0.642																																						ENST00000397781.3																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(328-330)Ctg>Gtg		zinc finger, matrin-type 5							63	57	59					22																	30134374		2203	4300	6503	SO:0001583	missense	55954				mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding	g.chr22:30134374G>C		CCDS13868.1	22q12.2	2013-09-20	2010-09-15		ENSG00000100319	ENSG00000100319		"Zinc fingers, matrin-type"	28046	protein-coding gene	gene with protein product	"U11/U12 snRNP 20K"					9847074	Standard	NM_019103		Approved	SNRNP20	uc003agn.3	Q9UDW3	OTTHUMG00000151292	ENST00000344318.3:c.328C>G	22.37:g.30134374G>C	ENSP00000344241:p.Leu110Val		Somatic				ZMAT5_ENST00000344318.3_Missense_Mutation_p.L110V	p.L110V	NM_019103.2	NP_061976.1	WXS	Illumina GAIIx	Phase_I	Q9UDW3	ZMAT5_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)		6	578	-			110					A8K9F6	Missense_Mutation	SNP	ENST00000344318.3	37	c.328C>G	CCDS13868.1	.	.	.	.	.	.	.	.	.	.	G	4.495	0.091739	0.08632	.	.	ENSG00000100319	ENST00000344318;ENST00000397781	.	.	.	5.0	1.5	0.22942	.	0.287861	0.32503	N	0.006003	T	0.24044	0.0582	L	0.27053	0.805	0.26417	N	0.97616	B	0.17465	0.022	B	0.17433	0.018	T	0.15607	-1.0431	9	0.17369	T	0.5	-6.519	7.241	0.26096	0.0:0.2764:0.483:0.2405	.	110	Q9UDW3	ZMAT5_HUMAN	V	110	.	ENSP00000344241:L110V	L	-	1	2	ZMAT5	28464374	0.451000	0.25705	0.647000	0.29507	0.905000	0.53344	0.503000	0.22610	0.691000	0.31592	-0.430000	0.05897	CTG		0.642	ZMAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322114.1	NM_019103		4	49	0	0	0	1	0	4	49					C	30134374	G	C	30134374	3	2	37	1	0	0	0	0	1	0	0	0	17710	933	33	2	192	2	ZMAT5	22	30134374	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	247813	30134374	21170192	349	3713										
SLC35E4	339665	broad.mit.edu	37	chr22	31042916	31042916	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	agctacgtgggcatcgcactCactctttcaggaatgttcct	9	12	3	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:31042916C>T	ENST00000343605.4	+	2	1750	c.951C>T	c.(949-951)ctC>ctT	p.L317L	SLC35E4_ENST00000300385.8_Intron|SLC35E4_ENST00000406566.1_Intron	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	317	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCATCGCACTCACTCTTTCAG	0.627																																						ENST00000343605.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						c.(949-951)ctC>ctT		solute carrier family 35, member E4							92	75	81					22																	31042916		2203	4300	6503	SO:0001819	synonymous_variant	339665					integral to membrane		g.chr22:31042916C>T		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"Solute carriers"	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.951C>T	22.37:g.31042916C>T			Somatic				SLC35E4_ENST00000300385.8_Intron|SLC35E4_ENST00000406566.1_Intron	p.L317L	NM_001001479.2	NP_001001479.1	WXS	Illumina GAIIx	Phase_I	Q6ICL7	S35E4_HUMAN			2	1750	+			317			Leu-rich.		Q567P0	Silent	SNP	ENST00000343605.4	37	c.951C>T	CCDS13882.1																																																																																				0.627	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		10	70	0	0	0	1	0	10	70					T	31042916	C	T	31042916	2	4	37	1	0	0	0	0	0	0	0	1	14602	813	29	3		3	SLC35E4	22	31042916	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	908542	31042916	20261650	350	3714										
MYH9	4627	broad.mit.edu	37	chr22	36697661	36697661	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	accttcaccagctcctcctcCttggccatcatctcctcctc	3	21	3	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:36697661C>A	ENST00000216181.5	-	21	2780	c.2550G>T	c.(2548-2550)aaG>aaT	p.K850N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	850					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						GCTCCTCCTCCTTGGCCATCA	0.617			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(2548-2550)aaG>aaT		myosin, heavy chain 9, non-muscle							131	95	107					22																	36697661		2202	4300	6502	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.chr22:36697661C>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.2550G>T	22.37:g.36697661C>A	ENSP00000216181:p.Lys850Asn		Somatic	OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	864		p.K850N	NM_002473.4	NP_002464.1	WXS	Illumina GAIIx	Phase_I	P35579	MYH9_HUMAN			21	2780	-			850					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.2550G>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237443	0.79800	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.75938	-0.98	5.78	2.58	0.30949	.	0.000000	0.85682	D	0.000000	D	0.87783	0.6264	H	0.94808	3.585	0.80722	D	1	D	0.76494	0.999	D	0.66351	0.943	D	0.88675	0.3198	10	0.87932	D	0	.	11.0839	0.48076	0.0:0.8001:0.0:0.1999	.	850	P35579	MYH9_HUMAN	N	714;850	ENSP00000216181:K850N	ENSP00000216181:K850N	K	-	3	2	MYH9	35027607	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.099000	0.41767	0.464000	0.27142	-0.136000	0.14681	AAG		0.617	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		12	47	1	0	0.00136819	1	0.00140701	12	47					A	36697661	C	A	36697661	3	1	37	1	0	0	0	0	1	0	0	0	10051	680	24	5	3416	5	MYH9	22	36697661	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	5654745	36697661	14606905	351	3715										
TCF20	6942	broad.mit.edu	37	chr22	42607449	42607449	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctttatcagcgccttcttttGatgagtgaaggaggcgacct	11	9	2	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:42607449G>C	ENST00000359486.3	-	1	3999	c.3863C>G	c.(3862-3864)tCa>tGa	p.S1288*	TCF20_ENST00000335626.4_Nonsense_Mutation_p.S1288*|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1288					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						GCCTTCTTTTGATGAGTGAAG	0.438																																						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.(3862-3864)tCa>tGa		transcription factor 20 (AR1)							212	190	198					22																	42607449		2203	4300	6503	SO:0001587	stop_gained	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42607449G>C	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.3863C>G	22.37:g.42607449G>C	ENSP00000352463:p.Ser1288*		Somatic				TCF20_ENST00000335626.4_Nonsense_Mutation_p.S1288*	p.S1288*	NM_005650.1	NP_005641.1	WXS	Illumina GAIIx	Phase_I	Q9UGU0	TCF20_HUMAN			1	3999	-			1288					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Nonsense_Mutation	SNP	ENST00000359486.3	37	c.3863C>G	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	41	8.895868	0.98994	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	.	.	.	5.53	4.52	0.55395	.	0.603375	0.15623	N	0.252773	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	0.2822	10.499	0.44794	0.1461:0.0:0.8539:0.0	.	.	.	.	X	1288	.	ENSP00000335561:S1288X	S	-	2	0	TCF20	40937393	0.952000	0.32445	0.084000	0.20598	0.899000	0.52679	4.660000	0.61511	1.576000	0.49790	0.655000	0.94253	TCA		0.438	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		16	86	0	0	0	1	0	16	86					C	42607449	G	C	42607449	4	2	37	1	0	0	0	0	0	1	0	0	15705	1294	45	2	2057	2	TCF20	22	42607449	Nonsense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	5909788	42607449	8697117	352	3716										
SERHL2	253190	broad.mit.edu	37	chr22	42968533	42968533	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cgatgaaatccaccctcaaaGaggtaagacggggctcaggc	12	11	2	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:42968533G>T	ENST00000327678.5	+	11	925	c.823G>T	c.(823-825)Gag>Tag	p.E275*	SERHL2_ENST00000335879.5_Nonsense_Mutation_p.E211*|SERHL2_ENST00000340239.4_3'UTR|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000407614.4_Nonsense_Mutation_p.E95*	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						CACCCTCAAAGAGGTAAGACG	0.527																																						ENST00000327678.5																			0				breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						c.(823-825)Gag>Tag		serine hydrolase-like 2							58	54	55					22																	42968533		2203	4299	6502	SO:0001587	stop_gained	253190					perinuclear region of cytoplasm|peroxisome	hydrolase activity	g.chr22:42968533G>T		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.823G>T	22.37:g.42968533G>T	ENSP00000331376:p.Glu275*		Somatic				SERHL2_ENST00000340239.4_3'UTR|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000335879.5_Nonsense_Mutation_p.E211*|SERHL2_ENST00000407614.4_Nonsense_Mutation_p.E95*	p.E275*	NM_014509.3	NP_055324.2	WXS	Illumina GAIIx	Phase_I	Q9H4I8	SEHL2_HUMAN			11	925	+			275					Q5JZ95|Q9UH21	Nonsense_Mutation	SNP	ENST00000327678.5	37	c.823G>T	CCDS14037.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878562	0.51801	.	.	ENSG00000183569	ENST00000327678;ENST00000356720;ENST00000407614;ENST00000335879	.	.	.	2.27	1.24	0.21308	.	0.254375	0.32593	N	0.005895	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	6.5109	0.22222	0.1537:0.0:0.8463:0.0	.	.	.	.	X	275;95;95;211	.	ENSP00000331376:E275X	E	+	1	0	SERHL2	41298477	0.972000	0.33761	0.721000	0.30653	0.054000	0.15201	1.973000	0.40550	0.510000	0.28216	-0.339000	0.08088	GAG		0.527	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320454.1	NM_014509		5	73	1	0	0.014758	1	0.0149296	5	73					T	42968533	G	T	42968533	4	4	37	1	0	0	0	0	0	1	0	0	14093	943	33	2	865	2	SERHL2	22	42968533	Nonsense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	361084	42968533	8336033	353	3717										
NUP50	10762	broad.mit.edu	37	chr22	45577223	45577223	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tagtagttaccgaagtaaaaGaagaagatgctttttactcc	8	6	0	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:45577223G>C	ENST00000347635.4	+	6	1526	c.1060G>C	c.(1060-1062)Gaa>Caa	p.E354Q	NUP50_ENST00000425733.2_Missense_Mutation_p.E104Q|CTA-268H5.12_ENST00000610217.1_RNA|NUP50_ENST00000407019.2_Missense_Mutation_p.E326Q|NUP50_ENST00000396096.2_Missense_Mutation_p.E326Q	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	354	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				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)		CGAAGTAAAAGAAGAAGATGC	0.418																																						ENST00000347635.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(1060-1062)Gaa>Caa		nucleoporin 50kDa							81	83	83					22																	45577223		2203	4300	6503	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.chr22:45577223G>C	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.1060G>C	22.37:g.45577223G>C	ENSP00000345895:p.Glu354Gln		Somatic				NUP50_ENST00000425733.2_Missense_Mutation_p.E104Q|NUP50_ENST00000407019.2_Missense_Mutation_p.E326Q|NUP50_ENST00000396096.2_Missense_Mutation_p.E326Q	p.E354Q	NM_007172.3	NP_009103.2	WXS	Illumina GAIIx	Phase_I	Q9UKX7	NUP50_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	6	1526	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	354			RanBD1.		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	ENST00000347635.4	37	c.1060G>C	CCDS14062.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979882	0.92982	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000425733;ENST00000396096;ENST00000422489	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.72	5.72	0.89469	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.000000	0.85682	D	0.000000	T	0.74351	0.3705	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79524	-0.1768	10	0.59425	D	0.04	-42.6985	19.5613	0.95373	0.0:0.0:1.0:0.0	.	104;354	B4E2D3;Q9UKX7	.;NUP50_HUMAN	Q	354;326;104;326;133	ENSP00000345895:E354Q;ENSP00000385555:E326Q;ENSP00000406928:E104Q;ENSP00000379403:E326Q;ENSP00000416264:E133Q	ENSP00000345895:E354Q	E	+	1	0	NUP50	43955887	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.210000	0.89753	2.702000	0.92279	0.650000	0.86243	GAA		0.418	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			4	54	0	0	0	1	0	4	54					C	45577223	G	C	45577223	3	2	37	1	0	0	0	0	1	0	0	0	10775	943	33	2	1078	2	NUP50	22	45577223	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	2608690	45577223	5727343	354	3718										
PKDREJ	10343	broad.mit.edu	37	chr22	46653081	46653081	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	aattatcctcataatgtgatCtacctgagaaactgcatgaa	6	8	2	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:46653081C>G	ENST00000253255.5	-	1	6138	c.6139G>C	c.(6139-6141)Gat>Cat	p.D2047H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2047					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)		ATAATGTGATCTACCTGAGAA	0.428																																						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.(6139-6141)Gat>Cat		polycystin (PKD) family receptor for egg jelly							80	84	83					22																	46653081		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46653081C>G	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.6139G>C	22.37:g.46653081C>G	ENSP00000253255:p.Asp2047His		Somatic					p.D2047H	NM_006071.1	NP_006062.1	WXS	Illumina GAIIx	Phase_I	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	6138	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	2047					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.6139G>C	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933189	0.52866	.	.	ENSG00000130943	ENST00000253255	T	0.70516	-0.49	5.81	5.81	0.92471	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.64402	D	0.000004	D	0.83589	0.5287	M	0.72118	2.19	0.44268	D	0.997128	D	0.89917	1.0	D	0.97110	1.0	D	0.84524	0.0629	10	0.72032	D	0.01	-28.8133	16.8074	0.85709	0.0:1.0:0.0:0.0	.	2047	Q9NTG1	PKDRE_HUMAN	H	2047	ENSP00000253255:D2047H	ENSP00000253255:D2047H	D	-	1	0	PKDREJ	45031745	0.998000	0.40836	0.709000	0.30452	0.285000	0.27093	4.931000	0.63469	2.758000	0.94735	0.508000	0.49915	GAT		0.428	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		8	64	0	0	0	1	0	8	64					G	46653081	C	G	46653081	3	3	37	1	0	0	0	0	1	0	0	0	11979	913	32	2	626	2	PKDREJ	22	46653081	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	1075858	46653081	4651485	355	3719										
FRMPD4	9758	broad.mit.edu	37	chrX	12735697	12735697	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctaactcttctgaaatgactGagagttctgaactggccaca	8	10	3	4			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:12735697G>A	ENST00000380682.1	+	16	3258	c.2752G>A	c.(2752-2754)Gag>Aag	p.E918K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	918					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGAAATGACTGAGAGTTCTGA	0.493																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(2752-2754)Gag>Aag		FERM and PDZ domain containing 4							114	107	109					X																	12735697		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12735697G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2752G>A	X.37:g.12735697G>A	ENSP00000370057:p.Glu918Lys		Somatic					p.E918K	NM_014728.3	NP_055543.2	WXS	Illumina GAIIx	Phase_I	Q14CM0	FRPD4_HUMAN			16	3258	+			918					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.2752G>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555560	0.86231	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.09538	2.97	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.36771	0.0979	M	0.73598	2.24	0.47245	D	0.99936	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.06643	-1.0815	10	0.72032	D	0.01	-25.9268	19.1909	0.93666	0.0:0.0:1.0:0.0	.	910;918	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	K	918;909;907	ENSP00000370057:E918K	ENSP00000304583:E907K	E	+	1	0	FRMPD4	12645618	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.360000	0.97119	2.483000	0.83821	0.600000	0.82982	GAG		0.493	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		24	199	0	0	0	1	0	24	199					A	12735697	G	A	12735697	3	1	37	1	0	0	0	0	1	0	0	0	6067	1291	45	3	2814	3	FRMPD4	23	12735697	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08		12735697	142534863	356	3720										
MAP3K15	389840	broad.mit.edu	37	chrX	19507020	19507020	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ggccatgtcaaagctttctcGgactccaagatggtagaaga	11	9	2	3	rs370173616		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:19507020G>A	ENST00000338883.4	-	2	426	c.427C>T	c.(427-429)Cga>Tga	p.R143*	MAP3K15_ENST00000469203.2_5'Flank	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	143							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AAGCTTTCTCGGACTCCAAGA	0.488																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(427-429)Cga>Tga		mitogen-activated protein kinase kinase kinase 15		G	stop/ARG	1,2626		0,0,1,1059,508	161	132	141		427	4.5	1	X		141	0,5498		0,0,0,1916,1666	no	stop-gained	MAP3K15	NM_001001671.3		0,0,1,2975,2174	AA,AG,A,GG,G		0.0,0.0381,0.0123		143/1314	19507020	1,8124	1568	3582	5150	SO:0001587	stop_gained	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19507020G>A	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.427C>T	X.37:g.19507020G>A	ENSP00000345629:p.Arg143*		Somatic					p.R143*	NM_001001671.3	NP_001001671.3	WXS	Illumina GAIIx	Phase_I	Q6ZN16	M3K15_HUMAN			2	426	-	Hepatocellular(33;0.183)		143					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Nonsense_Mutation	SNP	ENST00000338883.4	37	c.427C>T		.	.	.	.	.	.	.	.	.	.	G	36	5.762057	0.96906	3.81E-4	0.0	ENSG00000180815	ENST00000338883	.	.	.	5.34	4.48	0.54585	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0072	0.58712	0.081:0.0:0.919:0.0	.	.	.	.	X	143	.	ENSP00000345629:R143X	R	-	1	2	MAP3K15	19416941	1.000000	0.71417	0.968000	0.41197	0.826000	0.46750	3.469000	0.53093	1.033000	0.39918	0.600000	0.82982	CGA		0.488	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		24	84	0	0	0	1	0	24	84					A	19507020	G	A	19507020	4	1	37	1	0	0	0	0	0	1	0	0	9258	1124	39	1	3626	1	MAP3K15	23	19507020	Nonsense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	6771323	19507020	135763540	357	3721										
CNKSR2	22866	broad.mit.edu	37	chrX	21581355	21581355	+	Splice_Site	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tatttatctctttttatataGaaaactctctacttcggtat	3	7	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:21581355G>C	ENST00000379510.3	+	13	1429		c.e13-1		CNKSR2_ENST00000425654.2_Splice_Site|CNKSR2_ENST00000543067.1_Splice_Site|AL928874.1_ENST00000579338.1_RNA|CNKSR2_ENST00000279451.4_Splice_Site|CNKSR2_ENST00000485012.1_Splice_Site	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2						regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TTTTTATATAGAAAACTCTCT	0.323																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.e12-1		connector enhancer of kinase suppressor of Ras 2							27	28	28					X																	21581355		2194	4285	6479	SO:0001630	splice_region_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21581355G>C	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1394-1G>C	X.37:g.21581355G>C			Somatic				CNKSR2_ENST00000279451.4_Splice_Site|CNKSR2_ENST00000379510.3_Splice_Site|CNKSR2_ENST00000485012.1_Splice_Site|CNKSR2_ENST00000543067.1_Splice_Site		NM_001168647.1	NP_001162118.1	WXS	Illumina GAIIx	Phase_I	Q8WXI2	CNKR2_HUMAN			12	1783	+								B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Splice_Site	SNP	ENST00000379510.3	37		CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475791	0.63737	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1445	0.93459	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNKSR2	21491276	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.842000	0.86851	2.471000	0.83476	0.600000	0.82982	.		0.323	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	Intron	4	29	0	0	0	1	0	4	29					C	21581355	G	C	21581355	5	2	37	1	0	0	0	0	0	0	1	0	3609	956	33	2	1443	2	CNKSR2	23	21581355	Splice_Site	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	2074335	21581355	133689205	358	3722										
KDM5C	8242	broad.mit.edu	37	chrX	53222263	53222263	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tccgccggttccaagccattCtggttctcctgggtgctggg	13	13	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:53222263C>G	ENST00000375401.3	-	26	5101	c.4569G>C	c.(4567-4569)caG>caC	p.Q1523H	KDM5C_ENST00000375379.3_Missense_Mutation_p.Q1520H|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q1522H|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q1479H	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1523					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCAAGCCATTCTGGTTCTCCT	0.677			"N, F, S"		clear cell renal carcinoma																																	ENST00000375401.3				Rec	yes		X	Xp11.22-p11.21	8242	"N, F, S"	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(4567-4569)caG>caC		lysine (K)-specific demethylase 5C							35	27	29					X																	53222263		2201	4293	6494	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53222263C>G	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	11114	protein-coding gene	gene with protein product		314690	"Jumonji, AT rich interactive domain 1C (RBP2-like)", "Smcy homolog, X-linked (mouse)", "jumonji, AT rich interactive domain 1C", "mental retardation, X-linked 13"	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4569G>C	X.37:g.53222263C>G	ENSP00000364550:p.Gln1523His		Somatic				KDM5C_ENST00000404049.3_Missense_Mutation_p.Q1522H|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q1479H|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q1520H	p.Q1523H	NM_004187.3	NP_004178.2	WXS	Illumina GAIIx	Phase_I	P41229	KDM5C_HUMAN			26	5101	-			1523					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.4569G>C	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	c	16.21	3.057775	0.55325	.	.	ENSG00000126012	ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D	0.85171	-1.81;-1.81;-1.81;-1.95	4.26	3.38	0.38709	.	0.405736	0.14872	U	0.293492	T	0.77164	0.4090	L	0.38175	1.15	0.80722	D	1	P;P	0.44090	0.826;0.826	B;B	0.38562	0.276;0.276	T	0.72663	-0.4225	10	0.51188	T	0.08	-2.1368	9.4377	0.38648	0.0:0.7875:0.2125:0.0	.	1522;1523	B0QZ44;P41229	.;KDM5C_HUMAN	H	1523;1522;1520;1479	ENSP00000364550:Q1523H;ENSP00000385394:Q1522H;ENSP00000364528:Q1520H;ENSP00000364532:Q1479H	ENSP00000364528:Q1520H	Q	-	3	2	KDM5C	53238988	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.660000	0.37397	0.619000	0.30197	0.407000	0.27541	CAG		0.677	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		3	36	0	0	0	1	0	3	36					G	53222263	C	G	53222263	3	3	37	1	0	0	0	0	1	0	0	0	8144	912	32	2	215	2	KDM5C	23	53222263	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	31640908	53222263	102048297	359	3723										
TRO	7216	broad.mit.edu	37	chrX	54955689	54955689	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	agtgccactttcagtggtggAgccagctctggctttggagg	15	9	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:54955689A>G	ENST00000173898.7	+	12	2644	c.2532A>G	c.(2530-2532)ggA>ggG	p.G844G	TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Silent_p.G375G|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375041.2_Silent_p.G447G	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	844	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TCAGTGGTGGAGCCAGCTCTG	0.557																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(2530-2532)ggA>ggG		trophinin							39	36	37					X																	54955689		2186	4268	6454	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54955689A>G	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2532A>G	X.37:g.54955689A>G			Somatic				TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Silent_p.G447G|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Silent_p.G375G|TRO_ENST00000375022.4_Intron	p.G844G	NM_001039705.1	NP_001034794.1	WXS	Illumina GAIIx	Phase_I	Q12816	TROP_HUMAN			12	2644	+			844			62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.2532A>G	CCDS43959.1																																																																																				0.557	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		4	52	0	0	0	1	0	4	52					G	54955689	A	G	54955689	2	3	37	1	0	0	0	0	0	0	0	1	16589	291	11	4		4	TRO	23	54955689	Silent	SNP	A	TCGA-N9-A4Q7-01A-11D-A28R-08	1733426	54955689	100314871	360	3724										
HEPH	9843	broad.mit.edu	37	chrX	65483502	65483502	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ccagaacacttaagccctctCaccgtcatcaccaaagagac	5	16	3	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:65483502C>T	ENST00000343002.2	+	19	3880	c.3216C>T	c.(3214-3216)ctC>ctT	p.L1072L	HEPH_ENST00000419594.1_Silent_p.L883L|HEPH_ENST00000519389.1_Silent_p.L1126L|HEPH_ENST00000374727.3_Silent_p.L1075L|HEPH_ENST00000441993.2_Silent_p.L1075L|HEPH_ENST00000336279.5_Silent_p.L805L			Q9BQS7	HEPH_HUMAN	hephaestin	1072	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TAAGCCCTCTCACCGTCATCA	0.443																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(3376-3378)ctC>ctT		hephaestin							195	139	158					X																	65483502		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65483502C>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3216C>T	X.37:g.65483502C>T			Somatic				HEPH_ENST00000441993.2_Silent_p.L1075L|HEPH_ENST00000343002.2_Silent_p.L1072L|HEPH_ENST00000336279.5_Silent_p.L805L|HEPH_ENST00000419594.1_Silent_p.L883L|HEPH_ENST00000374727.3_Silent_p.L1075L	p.L1126L			WXS	Illumina GAIIx	Phase_I	Q9BQS7	HEPH_HUMAN			20	3557	+			1072					B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.3378C>T																																																																																					0.443	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		6	62	0	0	0	1	0	6	62					T	65483502	C	T	65483502	2	4	37	1	0	0	0	0	0	0	0	1	7063	813	29	3		3	HEPH	23	65483502	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	10527813	65483502	89787058	361	3725										
P2RY10	27334	broad.mit.edu	37	chrX	78216918	78216918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	caagtctctgctgccttttgGatccaattctttattacttt	5	10	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:78216918G>A	ENST00000171757.2	+	4	1181	c.901G>A	c.(901-903)Gat>Aat	p.D301N	P2RY10_ENST00000544091.1_Missense_Mutation_p.D301N	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.D301N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CTGCCTTTTGGATCCAATTCT	0.493																																						ENST00000171757.2																			1	Substitution - Missense(1)	p.D301N(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(901-903)Gat>Aat		purinergic receptor P2Y, G-protein coupled, 10							196	180	186					X																	78216918		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216918G>A	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.901G>A	X.37:g.78216918G>A	ENSP00000171757:p.Asp301Asn		Somatic				P2RY10_ENST00000544091.1_Missense_Mutation_p.D301N	p.D301N	NM_014499.2	NP_055314.1	WXS	Illumina GAIIx	Phase_I	O00398	P2Y10_HUMAN			4	1181	+			301					D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.901G>A	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421856	0.62622	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.53857	0.6;0.6	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.056517	0.64402	D	0.000002	T	0.59224	0.2178	L	0.31526	0.94	0.44995	D	0.998015	D	0.60160	0.987	D	0.69142	0.962	T	0.54583	-0.8272	10	0.25106	T	0.35	.	15.8594	0.79009	0.0:0.0:1.0:0.0	.	301	O00398	P2Y10_HUMAN	N	301	ENSP00000443138:D301N;ENSP00000171757:D301N	ENSP00000171757:D301N	D	+	1	0	P2RY10	78103574	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.238000	0.51352	2.311000	0.77944	0.597000	0.82753	GAT		0.493	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			17	161	0	0	0	1	0	17	161					A	78216918	G	A	78216918	3	1	37	1	0	0	0	0	1	0	0	0	11356	1174	41	3	903	3	P2RY10	23	78216918	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	12733416	78216918	77053642	362	3726										
POF1B	79983	broad.mit.edu	37	chrX	84601021	84601021	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gggctgttggataatgtgatGatggcattgagcctgaggat	16	4	0	4			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:84601021G>A	ENST00000262753.4	-	6	713	c.568C>T	c.(568-570)Cat>Tat	p.H190Y	POF1B_ENST00000373145.3_Missense_Mutation_p.H190Y	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	190						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ATAATGTGATGATGGCATTGA	0.438																																						ENST00000262753.4																			0				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(568-570)Cat>Tat		premature ovarian failure, 1B							162	127	139					X																	84601021		2202	4300	6502	SO:0001583	missense	79983						actin binding	g.chrX:84601021G>A	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.568C>T	X.37:g.84601021G>A	ENSP00000262753:p.His190Tyr		Somatic				POF1B_ENST00000373145.3_Missense_Mutation_p.H190Y	p.H190Y	NM_024921.3	NP_079197.3	WXS	Illumina GAIIx	Phase_I	Q8WVV4	POF1B_HUMAN			6	713	-			190					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.568C>T	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.772114	0.31320	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.10288	2.89;2.89	4.56	4.56	0.56223	.	0.000000	0.53938	D	0.000044	T	0.20901	0.0503	L	0.47716	1.5	0.28825	N	0.897471	P;D	0.61080	0.886;0.989	B;D	0.70487	0.359;0.969	T	0.03555	-1.1025	10	0.13470	T	0.59	.	11.5973	0.50981	0.0:0.0:1.0:0.0	.	190;190	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	Y	190	ENSP00000262753:H190Y;ENSP00000362238:H190Y	ENSP00000262753:H190Y	H	-	1	0	POF1B	84487677	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	3.983000	0.56916	2.217000	0.71921	0.594000	0.82650	CAT		0.438	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		5	47	0	0	0	1	0	5	47					A	84601021	G	A	84601021	3	1	37	1	0	0	0	0	1	0	0	0	12191	1290	45	3	1249	3	POF1B	23	84601021	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	6384103	84601021	70669539	363	3727										
RNF128	79589	broad.mit.edu	37	chrX	106034391	106034391	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gaagaggataatcgcagcgaGaccgcatcatctggatatgc	12	9	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:106034391G>A	ENST00000255499.2	+	6	1330	c.1080G>A	c.(1078-1080)gaG>gaA	p.E360E	RNF128_ENST00000324342.3_Silent_p.E334E	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	360					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATCGCAGCGAGACCGCATCAT	0.448																																						ENST00000255499.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(1078-1080)gaG>gaA		ring finger protein 128, E3 ubiquitin protein ligase							204	181	189					X																	106034391		2203	4300	6503	SO:0001819	synonymous_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106034391G>A	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.1080G>A	X.37:g.106034391G>A			Somatic				RNF128_ENST00000324342.3_Silent_p.E334E	p.E360E	NM_194463.1	NP_919445.1	WXS	Illumina GAIIx	Phase_I	Q8TEB7	RN128_HUMAN			6	1330	+			360					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Silent	SNP	ENST00000255499.2	37	c.1080G>A	CCDS14521.1																																																																																				0.448	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		14	189	0	0	0	1	0	14	189					A	106034391	G	A	106034391	2	1	37	1	0	0	0	0	0	0	0	1	13451	933	33	3		3	RNF128	23	106034391	Silent	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	21433370	106034391	49236169	364	3728										
COL4A5	1287	broad.mit.edu	37	chrX	107834449	107834449	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ctcctggccctgctggccctCacattcctcctagtaagcta	7	17	1	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:107834449C>G	ENST00000361603.2	+	20	1571	c.1327C>G	c.(1327-1329)Cac>Gac	p.H443D	COL4A5_ENST00000328300.6_Missense_Mutation_p.H443D	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	443	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGCTGGCCCTCACATTCCTCC	0.458									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(1327-1329)Cac>Gac		collagen, type IV, alpha 5							58	64	62					X																	107834449		2203	4299	6502	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107834449C>G	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1327C>G	X.37:g.107834449C>G	ENSP00000354505:p.His443Asp		Somatic				COL4A5_ENST00000361603.2_Missense_Mutation_p.H443D	p.H443D	NM_033380.2	NP_203699.1	WXS	Illumina GAIIx	Phase_I	P29400	CO4A5_HUMAN			20	1571	+			443			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.1327C>G	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	c	0.463	-0.888001	0.02511	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.92805	-3.11;-3.11	5.08	4.21	0.49690	.	0.318072	0.30959	N	0.008521	T	0.78304	0.4262	N	0.08118	0	0.80722	D	1	B;B;B	0.19073	0.02;0.033;0.02	B;B;B	0.19666	0.011;0.026;0.011	T	0.65755	-0.6091	10	0.11182	T	0.66	.	3.5129	0.07714	0.1836:0.5319:0.0:0.2845	.	443;51;443	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	D	443	ENSP00000331902:H443D;ENSP00000354505:H443D	ENSP00000331902:H443D	H	+	1	0	COL4A5	107721105	0.127000	0.22367	0.337000	0.25536	0.036000	0.12997	0.834000	0.27518	0.928000	0.37168	0.540000	0.68198	CAC		0.458	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			5	78	0	0	0	1	0	5	78					G	107834449	C	G	107834449	3	3	37	1	0	0	0	0	1	0	0	0	3696	826	29	2	1405	2	COL4A5	23	107834449	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	1800058	107834449	47436111	365	3729										
PLS3	5358	broad.mit.edu	37	chrX	114856633	114856633	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	agctaatatgccattaccagGatataaagtgagagaaatta	8	5	0	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:114856633G>T	ENST00000420625.2	+	3	283	c.149G>T	c.(148-150)gGa>gTa	p.G50V	PLS3_ENST00000289290.3_Missense_Mutation_p.G5V|PLS3_ENST00000539310.1_Missense_Mutation_p.G5V|PLS3_ENST00000537301.1_Missense_Mutation_p.G28V|PLS3_ENST00000355899.3_Missense_Mutation_p.G50V	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	50					bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						CCATTACCAGGATATAAAGTG	0.353																																					Colon(160;1047 1864 8490 12969 29601)	ENST00000420625.2																			0				NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						c.(148-150)gGa>gTa		plastin 3							105	104	104					X																	114856633		2203	4300	6503	SO:0001583	missense	5358					cytoplasm	actin binding|calcium ion binding	g.chrX:114856633G>T	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"EF-hand domain containing"	9091	protein-coding gene	gene with protein product		300131	"plastin 3 (T isoform)"			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.149G>T	X.37:g.114856633G>T	ENSP00000398945:p.Gly50Val		Somatic				PLS3_ENST00000539310.1_Missense_Mutation_p.G5V|PLS3_ENST00000537301.1_Missense_Mutation_p.G28V|PLS3_ENST00000355899.3_Missense_Mutation_p.G50V|PLS3_ENST00000289290.3_Missense_Mutation_p.G5V	p.G50V	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	WXS	Illumina GAIIx	Phase_I	P13797	PLST_HUMAN			3	283	+			50					A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	c.149G>T	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519358	0.85495	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	T;T;D;T;D	0.87729	-0.59;-0.59;-2.29;-0.59;-2.29	5.38	5.38	0.77491	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92004	0.7467	L	0.60845	1.875	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.995	D;D;D	0.74674	0.984;0.967;0.945	D	0.92778	0.6238	10	0.72032	D	0.01	-15.3451	16.5784	0.84707	0.0:0.0:1.0:0.0	.	50;28;50	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	V	50;28;5;50;5	ENSP00000348163:G50V;ENSP00000445105:G28V;ENSP00000289290:G5V;ENSP00000398945:G50V;ENSP00000445339:G5V	ENSP00000289290:G5V	G	+	2	0	PLS3	114762889	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	9.869000	0.99810	2.222000	0.72286	0.544000	0.68410	GGA		0.353	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			9	76	1	0	1.12685e-05	1	1.17832e-05	9	76					T	114856633	G	T	114856633	3	4	37	1	0	0	0	0	1	0	0	0	12117	1174	41	2	155	2	PLS3	23	114856633	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	7022184	114856633	40413927	366	3730										
F9	2158	broad.mit.edu	37	chrX	138630629	138630629	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gatatcgacttgcagaaaacCagaagtcctgtgaaccagca	9	10	0	3			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:138630629C>T	ENST00000218099.2	+	5	506	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	F9_ENST00000394090.2_Nonsense_Mutation_p.Q129*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	167	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.		Q -> H (in HEMB; mild).		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TGCAGAAAACCAGAAGTCCTG	0.348																																						ENST00000218099.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CM045763	F9	M		c.(499-501)Cag>Tag		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						128	110	116					X																	138630629		2203	4300	6503	SO:0001587	stop_gained	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138630629C>T	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.499C>T	X.37:g.138630629C>T	ENSP00000218099:p.Gln167*		Somatic				F9_ENST00000394090.2_Nonsense_Mutation_p.Q129*	p.Q167*	NM_000133.3	NP_000124.1	WXS	Illumina GAIIx	Phase_I	P00740	FA9_HUMAN			5	506	+	Acute lymphoblastic leukemia(192;0.000127)		167		Q -> H (in HEMB; mild).	EGF-like 2.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Nonsense_Mutation	SNP	ENST00000218099.2	37	c.499C>T	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	C	9.894	1.205144	0.22205	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	.	.	.	5.08	3.14	0.36123	.	0.377447	0.28236	N	0.016099	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7867	0.23677	0.3522:0.479:0.1688:0.0	.	.	.	.	X	167;129	.	.	Q	+	1	0	F9	138458295	0.948000	0.32251	0.999000	0.59377	0.197000	0.23852	0.487000	0.22356	1.015000	0.39444	-0.351000	0.07748	CAG		0.348	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			5	55	0	0	0	1	0	5	55					T	138630629	C	T	138630629	4	4	37	1	0	0	0	0	0	1	0	0	5356	595	21	3	517	3	F9	23	138630629	Nonsense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	23773996	138630629	16639931	367	3731										
MAGEA10	4109	broad.mit.edu	37	chrX	151303366	151303366	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	tgcttcccagatgacctcctCaggggtgcagtagccctcta	10	14	2	2			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:151303366C>T	ENST00000370323.4	-	4	1043	c.727G>A	c.(727-729)Gag>Aag	p.E243K	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.E243K	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	243	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					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)					ATGACCTCCTCAGGGGTGCAG	0.512																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(727-729)Gag>Aag		melanoma antigen family A, 10							75	70	72					X																	151303366		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303366C>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.727G>A	X.37:g.151303366C>T	ENSP00000359347:p.Glu243Lys		Somatic				MAGEA10_ENST00000244096.3_Missense_Mutation_p.E243K|RP11-1007I13.4_ENST00000509345.2_RNA	p.E243K	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	WXS	Illumina GAIIx	Phase_I	P43363	MAGAA_HUMAN			4	1043	-	Acute lymphoblastic leukemia(192;6.56e-05)		243			MAGE.			Missense_Mutation	SNP	ENST00000370323.4	37	c.727G>A	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185882	0.78789	.	.	ENSG00000124260	ENST00000370323;ENST00000244096	T;T	0.10192	2.9;2.9	2.6	2.6	0.31112	.	0.055211	0.64402	D	0.000001	T	0.37237	0.0996	M	0.93375	3.41	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.14643	-1.0465	10	0.87932	D	0	.	7.8732	0.29578	0.0:1.0:0.0:0.0	.	243	P43363	MAGAA_HUMAN	K	243	ENSP00000359347:E243K;ENSP00000244096:E243K	ENSP00000244096:E243K	E	-	1	0	MAGEA10	151054022	0.054000	0.20591	0.008000	0.14137	0.910000	0.53928	1.363000	0.34159	1.567000	0.49668	0.292000	0.19580	GAG		0.512	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		12	95	0	0	0	1	0	12	95					T	151303366	C	T	151303366	3	4	37	1	0	0	0	0	1	0	0	0	9173	835	29	3	386	3	MAGEA10	23	151303366	Missense_Mutation	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	12672737	151303366	3967194	368	3732										
HCFC1	3054	broad.mit.edu	37	chrX	153217411	153217411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	cggcaggggccagggcctcaGtggggaggtggtgatgctgc	21	9	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:153217411G>A	ENST00000310441.7	-	20	6107	c.5141C>T	c.(5140-5142)aCt>aTt	p.T1714I	HCFC1_ENST00000369984.4_Missense_Mutation_p.T1759I|HCFC1_ENST00000354233.3_Missense_Mutation_p.T1645I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1714					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)					CAGGGCCTCAGTGGGGAGGTG	0.652																																						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.(5140-5142)aCt>aTt		host cell factor C1 (VP16-accessory protein)							14	17	16					X																	153217411		2081	4206	6287	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:153217411G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5141C>T	X.37:g.153217411G>A	ENSP00000309555:p.Thr1714Ile		Somatic				HCFC1_ENST00000369984.4_Missense_Mutation_p.T1759I|HCFC1_ENST00000354233.3_Missense_Mutation_p.T1645I	p.T1714I	NM_005334.2	NP_005325.2	WXS	Illumina GAIIx	Phase_I	P51610	HCFC1_HUMAN			20	6107	-	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)		1714					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.5141C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172965	0.78452	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.06528	3.29;3.29;3.3	5.21	4.34	0.51931	.	0.050180	0.85682	D	0.000000	T	0.14227	0.0344	L	0.29908	0.895	0.37508	D	0.917037	D	0.71674	0.998	D	0.76071	0.987	T	0.04320	-1.0960	10	0.72032	D	0.01	.	11.8011	0.52128	0.0892:0.0:0.9108:0.0	.	1714	P51610	HCFC1_HUMAN	I	1714;1759;1645	ENSP00000309555:T1714I;ENSP00000359001:T1759I;ENSP00000346174:T1645I	ENSP00000309555:T1714I	T	-	2	0	HCFC1	152870605	1.000000	0.71417	0.451000	0.26982	0.985000	0.73830	8.486000	0.90451	0.979000	0.38497	0.525000	0.51046	ACT		0.652	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		6	16	0	0	0	1	0	6	16					A	153217411	G	A	153217411	3	1	37	1	0	0	0	0	1	0	0	0	7000	1029	36	3	994	3	HCFC1	23	153217411	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	1914045	153217411	2053149	369	3733										
FLNA	2316	broad.mit.edu	37	chrX	153595790	153595790	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	ccgtaggcacgggctttcttCgggttcagtttgggccgcaa	14	11	2	0			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:153595790C>T	ENST00000369850.3	-	5	1079	c.843G>A	c.(841-843)ccG>ccA	p.P281P	FLNA_ENST00000344736.4_Silent_p.P281P|FLNA_ENST00000360319.4_Silent_p.P281P|FLNA_ENST00000422373.1_Silent_p.P281P	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	281					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.P281P(1)		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)					GGGCTTTCTTCGGGTTCAGTT	0.622																																						ENST00000422373.1																			1	Substitution - coding silent(1)	p.P281P(1)	lung(1)	breast(6)	6						c.(841-843)ccG>ccA		filamin A, alpha							49	54	52					X																	153595790		2186	4281	6467	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153595790C>T	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.843G>A	X.37:g.153595790C>T			Somatic				FLNA_ENST00000344736.4_Silent_p.P281P|FLNA_ENST00000360319.4_Silent_p.P281P|FLNA_ENST00000369850.3_Silent_p.P281P	p.P281P	NM_001456.3	NP_001447.2	WXS	Illumina GAIIx	Phase_I	P21333	FLNA_HUMAN			5	1091	-	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)		281					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.843G>A	CCDS48194.1																																																																																				0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			11	88	0	0	0	1	0	11	88					T	153595790	C	T	153595790	2	4	37	1	0	0	0	0	0	0	0	1	5941	871	31	1		1	FLNA	23	153595790	Silent	SNP	C	TCGA-N9-A4Q7-01A-11D-A28R-08	378379	153595790	1674770	370	3734										
ATP6AP1	537	broad.mit.edu	37	chrX	153663762	153663762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	gcatctactccttccactgcGagtatgtcagcagcctgagc	9	14	2	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:153663762G>A	ENST00000369762.2	+	9	1175	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	372					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCCACTGCGAGTATGTCAG	0.592																																						ENST00000369762.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14						c.(1114-1116)Gag>Aag		ATPase, H+ transporting, lysosomal accessory protein 1							61	51	55					X																	153663762		2203	4300	6503	SO:0001583	missense	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153663762G>A	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.1114G>A	X.37:g.153663762G>A	ENSP00000358777:p.Glu372Lys		Somatic					p.E372K	NM_001183.4	NP_001174.2	WXS	Illumina GAIIx	Phase_I	Q15904	VAS1_HUMAN			9	1175	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		372					A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	ENST00000369762.2	37	c.1114G>A	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096257	0.56075	.	.	ENSG00000071553	ENST00000369762;ENST00000445849	.	.	.	5.69	0.458	0.16670	.	0.544981	0.22570	N	0.058360	T	0.38639	0.1048	L	0.59436	1.845	0.24550	N	0.994024	B;B	0.21452	0.023;0.056	B;B	0.14023	0.01;0.01	T	0.33240	-0.9876	9	0.11794	T	0.64	-2.4759	12.9401	0.58337	0.0771:0.6509:0.272:0.0	.	332;372	B3KR70;Q15904	.;VAS1_HUMAN	K	372;196	.	ENSP00000358777:E372K	E	+	1	0	ATP6AP1	153316956	0.404000	0.25328	0.180000	0.23079	0.895000	0.52256	0.027000	0.13621	-0.070000	0.12908	-0.197000	0.12766	GAG		0.592	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		21	51	0	0	0	1	0	21	51					A	153663762	G	A	153663762	3	1	37	1	0	0	0	0	1	0	0	0	1165	1059	37	1	1148	1	ATP6AP1	23	153663762	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	67972	153663762	1606798	371	3735										
F8	2157	broad.mit.edu	37	chrX	154197759	154197759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.520215633423181	193	2.10942754781339e-68	3.9035216724386	5.06406091370558	2.88550479413424	8.00168761821055e-05	0.00228048097119001	144	accttcgaggaatattgagtGcacttcaggagtggtgccca	12	9	1	1			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:154197759G>A	ENST00000360256.4	-	7	1056	c.856C>T	c.(856-858)Cac>Tac	p.H286Y	F8_ENST00000483822.1_5'Flank	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	286	F5/8 type A 1.|Plastocyanin-like 2.				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)	AATATTGAGTGCACTTCAGGA	0.453																																						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	CI083372	F8	I		c.(856-858)Cac>Tac		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						168	144	152					X																	154197759		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:154197759G>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.856C>T	X.37:g.154197759G>A	ENSP00000353393:p.His286Tyr		Somatic					p.H286Y	NM_000132.3	NP_000123.1	WXS	Illumina GAIIx	Phase_I	P00451	FA8_HUMAN			7	1056	-	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)		286			F5/8 type A 1.|Plastocyanin-like 2.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.856C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129509	0.77549	.	.	ENSG00000185010	ENST00000360256	D	0.99809	-6.86	5.51	5.51	0.81932	Cupredoxin (2);Multicopper oxidase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99829	0.9923	M	0.94063	3.49	0.37453	D	0.91488	D	0.89917	1.0	D	0.91635	0.999	D	0.97003	0.9730	10	0.72032	D	0.01	-16.895	15.0533	0.71891	0.0:0.0:1.0:0.0	.	286	P00451	FA8_HUMAN	Y	286	ENSP00000353393:H286Y	ENSP00000353393:H286Y	H	-	1	0	F8	153850953	1.000000	0.71417	0.938000	0.37757	0.977000	0.68977	6.777000	0.75028	2.305000	0.77605	0.544000	0.68410	CAC		0.453	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			29	97	0	0	0	1	0	29	97					A	154197759	G	A	154197759	3	1	37	1	0	0	0	0	1	0	0	0	5352	1319	46	3	6307	3	F8	23	154197759	Missense_Mutation	SNP	G	TCGA-N9-A4Q7-01A-11D-A28R-08	533997	154197759	1072801	372	3736										
CASZ1	54897	broad.mit.edu	37	chr1	10713827	10713827	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	gttgggaggtttggtggcacTgggcccagcctcggtggcgg	20	9	0	0			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:10713827T>A	ENST00000377022.3	-	11	2604	c.2287A>T	c.(2287-2289)Agt>Tgt	p.S763C	CASZ1_ENST00000344008.5_Missense_Mutation_p.S763C|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	763					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)		TTGGTGGCACTGGGCCCAGCC	0.701																																						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.(2287-2289)Agt>Tgt		castor zinc finger 1							35	45	41					1																	10713827		2203	4298	6501	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10713827T>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2287A>T	1.37:g.10713827T>A	ENSP00000366221:p.Ser763Cys		Somatic				CASZ1_ENST00000344008.5_Missense_Mutation_p.S763C|RP4-734G22.3_ENST00000606802.1_RNA	p.S763C	NM_001079843.1	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)	11	2604	-	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)	763					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.2287A>T	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	T	4.996	0.184976	0.09495	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.7	-4.64	0.03349	.	0.967547	0.08639	N	0.915850	T	0.26702	0.0653	N	0.08118	0	0.09310	N	0.999997	B;B;P	0.41569	0.003;0.001;0.755	B;B;P	0.47162	0.004;0.001;0.54	T	0.40001	-0.9586	9	0.51188	T	0.08	-0.0636	15.6278	0.76874	0.0:0.6902:0.0:0.3098	.	787;763;763	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	C	763	.	ENSP00000339445:S763C	S	-	1	0	CASZ1	10636414	0.075000	0.21258	0.108000	0.21378	0.070000	0.16714	-0.034000	0.12225	-0.814000	0.04352	-1.322000	0.01289	AGT		0.701	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		8	47	0	0	0	1	0	8	47					A	10713827	T	A	10713827	3	1	38	1	0	0	0	0	1	0	0	0	2687	1580	55	4	3040	4	CASZ1	1	10713827	Missense_Mutation	SNP	T	TCGA-N9-A4Q8-01A-31D-A28R-08		10713827	238536794	1	3737										
UBXN10	127733	broad.mit.edu	37	chr1	20517119	20517119	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	cactgttgtcagcacagcagTtgacagcctcatttggcagc	10	12	2	1			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:20517119T>A	ENST00000375099.3	+	2	149	c.65T>A	c.(64-66)gTt>gAt	p.V22D		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	22										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						AGCACAGCAGTTGACAGCCTC	0.512																																						ENST00000375099.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						c.(64-66)gTt>gAt		UBX domain protein 10							97	86	90					1																	20517119		2203	4300	6503	SO:0001583	missense	127733							g.chr1:20517119T>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.65T>A	1.37:g.20517119T>A	ENSP00000364240:p.Val22Asp		Somatic					p.V22D	NM_152376.3	NP_689589.1	WXS	Illumina GAIIx	Phase_I	Q96LJ8	UBX10_HUMAN			2	149	+			22					Q5R386	Missense_Mutation	SNP	ENST00000375099.3	37	c.65T>A	CCDS205.1	.	.	.	.	.	.	.	.	.	.	T	2.669	-0.278009	0.05679	.	.	ENSG00000162543	ENST00000375099	.	.	.	3.71	1.65	0.23941	.	0.781969	0.11066	N	0.603484	T	0.27349	0.0671	L	0.29908	0.895	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.21245	-1.0251	9	0.44086	T	0.13	-0.056	4.0761	0.09904	0.0:0.5836:0.1958:0.2207	.	22	Q96LJ8	UBX10_HUMAN	D	22	.	ENSP00000364240:V22D	V	+	2	0	UBXN10	20389706	0.002000	0.14202	0.007000	0.13788	0.011000	0.07611	0.246000	0.18160	0.517000	0.28361	-0.337000	0.08149	GTT		0.512	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		9	116	0	0	0	1	0	9	116					A	20517119	T	A	20517119	3	1	38	1	0	0	0	0	1	0	0	0	16927	1725	60	4	67	4	UBXN10	1	20517119	Missense_Mutation	SNP	T	TCGA-N9-A4Q8-01A-31D-A28R-08	9803292	20517119	228733502	2	3738										
EIF3I	8668	broad.mit.edu	37	chr1	32694780	32694780	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	gccatggatgtaaccacaacCtccaccaggattggcaagtt	9	12	0	0			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:32694780C>A	ENST00000373586.1	+	9	846	c.774C>A	c.(772-774)acC>acA	p.T258T	MTMR9LP_ENST00000441044.1_RNA	NM_003757.2	NP_003748.1			eukaryotic translation initiation factor 3, subunit I											breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				TAACCACAACCTCCACCAGGA	0.443																																					Colon(102;1138 2140 2180 17876)	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.(772-774)acC>acA		eukaryotic translation initiation factor 3, subunit I							94	98	97					1																	32694780		2203	4300	6503	SO:0001819	synonymous_variant	8668					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr1:32694780C>A	U39067	CCDS357.1	1p34.1	2013-01-10	2007-07-27	2007-07-27	ENSG00000084623	ENSG00000084623		"WD repeat domain containing"	3272	protein-coding gene	gene with protein product		603911	"eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa"	EIF3S2		7566156, 8995409	Standard	NM_003757		Approved	TRIP-1, eIF3-beta, eIF3-p36, eIF3i	uc009vuc.3	Q13347	OTTHUMG00000007364	ENST00000373586.1:c.774C>A	1.37:g.32694780C>A			Somatic					p.T258T	NM_003757.2	NP_003748.1	WXS	Illumina GAIIx	Phase_I	Q13347	EIF3I_HUMAN			9	846	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	258						Silent	SNP	ENST00000373586.1	37	c.774C>A	CCDS357.1																																																																																				0.443	EIF3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019282.2	NM_003757		27	45	1	0	2.41591e-17	1	2.66139e-17	27	45					A	32694780	C	A	32694780	2	1	38	1	0	0	0	0	0	0	0	1	5021	668	24	5		5	EIF3I	1	32694780	Silent	SNP	C	TCGA-N9-A4Q8-01A-31D-A28R-08	12177661	32694780	216555841	3	3739										
NBPF10	100132406	broad.mit.edu	37	chr1	145293414	145293414	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	acaaacgtcagcatggtggtAtcagccggcccttggtccag	12	12	2	0			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:145293414A>G	ENST00000369339.3	+	3	262	c.9A>G	c.(7-9)gtA>gtG	p.V3V	NBPF10_ENST00000342960.5_Silent_p.V3V|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	274						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)		GCATGGTGGTATCAGCCGGCC	0.493																																						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.(7-9)gtA>gtG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145293414A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.9A>G	1.37:g.145293414A>G			Somatic				RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Silent_p.V3V	p.V3V	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)	1	44	+	all_hematologic(923;0.032)		3					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.9A>G																																																																																					0.493	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		38	921	0	0	0	1	0	38	921					G	145293414	A	G	145293414	2	3	38	1	0	0	0	0	0	0	0	1	10202	436	16	4		4	NBPF10	1	145293414	Silent	SNP	A	TCGA-N9-A4Q8-01A-31D-A28R-08	112598634	145293414	103957207	4	3740										
FCRL5	83416	broad.mit.edu	37	chr1	157516848	157516848	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	ggggtttctcttagtatttcTttcccaaggtaccgatggta	10	8	2	0			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:157516848T>A	ENST00000361835.3	-	3	349	c.192A>T	c.(190-192)aaA>aaT	p.K64N	FCRL5_ENST00000368190.3_Missense_Mutation_p.K64N|FCRL5_ENST00000368189.3_Missense_Mutation_p.K64N|FCRL5_ENST00000356953.4_Missense_Mutation_p.K64N|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368188.2_Missense_Mutation_p.K64N	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	64	Ig-like C2-type 1.				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)				TTAGTATTTCTTTCCCAAGGT	0.502																																						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.(190-192)aaA>aaT		Fc receptor-like 5							125	123	124					1																	157516848		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157516848T>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.192A>T	1.37:g.157516848T>A	ENSP00000354691:p.Lys64Asn		Somatic				FCRL5_ENST00000356953.4_Missense_Mutation_p.K64N|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368188.2_Missense_Mutation_p.K64N|FCRL5_ENST00000368190.3_Missense_Mutation_p.K64N|FCRL5_ENST00000368189.3_Missense_Mutation_p.K64N	p.K64N	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	WXS	Illumina GAIIx	Phase_I	Q96RD9	FCRL5_HUMAN			3	349	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	64			Ig-like C2-type 1.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.192A>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	T	8.353	0.831279	0.16820	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368189;ENST00000368188	T;T;T;T;T	0.03272	3.99;3.99;3.99;3.99;3.99	5.01	-10.0	0.00425	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00384	0.0012	N	0.12853	0.265	0.09310	N	1	B;B;P;B	0.48294	0.01;0.025;0.908;0.236	B;B;B;B	0.37989	0.018;0.055;0.16;0.262	T	0.43048	-0.9415	9	0.25106	T	0.35	.	1.3247	0.02123	0.3415:0.262:0.2591:0.1374	.	64;64;64;64	Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;FCRL5_HUMAN	N	64	ENSP00000354691:K64N;ENSP00000349434:K64N;ENSP00000357173:K64N;ENSP00000357172:K64N;ENSP00000357171:K64N	ENSP00000349434:K64N	K	-	3	2	FCRL5	155783472	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.293000	0.00134	-3.340000	0.00183	-0.323000	0.08544	AAA		0.502	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		23	89	0	0	0	1	0	23	89					A	157516848	T	A	157516848	3	1	38	1	0	0	0	0	1	0	0	0	5806	1606	56	4	2801	4	FCRL5	1	157516848	Missense_Mutation	SNP	T	TCGA-N9-A4Q8-01A-31D-A28R-08	12223434	157516848	91733773	5	3741										
FMN2	56776	broad.mit.edu	37	chr1	240371964	240371964	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	caggacaaagggagtaggaaGcagcccatagagccttgtcg	14	9	0	1			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:240371964G>C	ENST00000319653.9	+	5	4082	c.3852G>C	c.(3850-3852)aaG>aaC	p.K1284N		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1284	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)			GGAGTAGGAAGCAGCCCATAG	0.468																																						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.(3850-3852)aaG>aaC		formin 2							66	68	67					1																	240371964		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.chr1:240371964G>C	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.3852G>C	1.37:g.240371964G>C	ENSP00000318884:p.Lys1284Asn		Somatic					p.K1284N	NM_020066.4	NP_064450.3	WXS	Illumina GAIIx	Phase_I	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	4082	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1284			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3852G>C	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	g	12.72	2.022830	0.35701	.	.	ENSG00000155816	ENST00000319653	T	0.20738	2.05	4.6	2.31	0.28768	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.56097	U	0.000028	T	0.44891	0.1315	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.39143	-0.9628	9	.	.	.	.	5.9793	0.19399	0.4432:0.0:0.5568:0.0	.	1284	Q9NZ56	FMN2_HUMAN	N	1284	ENSP00000318884:K1284N	.	K	+	3	2	FMN2	238438587	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.070000	0.30653	0.928000	0.37168	0.472000	0.43445	AAG		0.468	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		9	60	0	0	0	1	0	9	60					C	240371964	G	C	240371964	3	2	38	1	0	0	0	0	1	0	0	0	5958	962	34	5	3870	5	FMN2	1	240371964	Missense_Mutation	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08	82855116	240371964	8878657	6	3742										
KIF26B	55083	broad.mit.edu	37	chr1	245851417	245851417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	ccgcgcggggaggagcctggGccgcagcgccgggacctcgc	19	16	0	0			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:245851417G>A	ENST00000407071.2	+	12	5572	c.5132G>A	c.(5131-5133)gGc>gAc	p.G1711D	KIF26B_ENST00000366518.4_Missense_Mutation_p.G1330D	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1711	Ser-rich.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGAGCCTGGGCCGCAGCGCC	0.746																																						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.(3988-3990)gGc>gAc		kinesin family member 26B							4	5	4					1																	245851417		1679	3692	5371	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245851417G>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.5132G>A	1.37:g.245851417G>A	ENSP00000385545:p.Gly1711Asp		Somatic				KIF26B_ENST00000407071.2_Missense_Mutation_p.G1711D	p.G1330D			WXS	Illumina GAIIx	Phase_I	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	4093	+	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)		1711					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.3989G>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910359	0.33721	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77229	-1.08;-1.08	4.89	3.76	0.43208	.	.	.	.	.	T	0.70228	0.3200	L	0.48642	1.525	0.28390	N	0.919141	P;B	0.35745	0.518;0.22	B;B	0.32864	0.154;0.086	T	0.67452	-0.5667	9	0.52906	T	0.07	.	12.0056	0.53257	0.1504:0.0:0.8496:0.0	.	1330;1711	B7WPD9;Q2KJY2	.;KI26B_HUMAN	D	1711;1330;1327	ENSP00000385545:G1711D;ENSP00000355475:G1330D	ENSP00000355475:G1330D	G	+	2	0	KIF26B	243918040	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	1.026000	0.30103	2.281000	0.76405	0.462000	0.41574	GGC		0.746	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		8	6	0	0	0	1	0	8	6					A	245851417	G	A	245851417	3	1	38	1	0	0	0	0	1	0	0	0	8304	1203	42	3	5178	3	KIF26B	1	245851417	Missense_Mutation	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08	5479453	245851417	3399204	7	3743										
SULT1C3	442038	broad.mit.edu	37	chr2	108868909	108868909	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	gcccagactctagatagacaCgctttccttgaactgaaatt	7	11	1	5	rs201163943		TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr2:108868909C>T	ENST00000329106.2	+	2	261	c.261C>T	c.(259-261)caC>caT	p.H87H	SULT1C3_ENST00000376700.1_Silent_p.H87H	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	87					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						TAGATAGACACGCTTTCCTTG	0.373																																						ENST00000329106.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(259-261)caC>caT		sulfotransferase family, cytosolic, 1C, member 3							75	74	74					2																	108868909		2203	4300	6503	SO:0001819	synonymous_variant	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108868909C>T	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.261C>T	2.37:g.108868909C>T			Somatic				SULT1C3_ENST00000376700.1_Silent_p.H87H	p.H87H	NM_001008743.1	NP_001008743.1	WXS	Illumina GAIIx	Phase_I	Q6IMI6	ST1C3_HUMAN			2	261	+			87					Q6IMI5	Silent	SNP	ENST00000329106.2	37	c.261C>T	CCDS33267.1																																																																																				0.373	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		12	25	0	0	0	1	0	12	25					T	108868909	C	T	108868909	2	4	38	1	0	0	0	0	0	0	0	1	15393	535	19	1		1	SULT1C3	2	108868909	Silent	SNP	C	TCGA-N9-A4Q8-01A-31D-A28R-08		108868909	134330464	8	3744										
BCL2L11	10018	broad.mit.edu	37	chr2	111921771	111921772	+	Frame_Shift_Ins	INS	-	-	A													0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	atggttatcttacgactgttINSacgttacattgtccgcctgg							TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr2:111921771_111921772insA	ENST00000393256.3	+	4	833_834	c.560_561insA	c.(559-564)ttacgtfs	p.R188fs	BCL2L11_ENST00000308659.8_Frame_Shift_Ins_p.R128fs	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)	188					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						TTACGACTGTTACGTTACATTG	0.436																																						ENST00000393256.3																			0				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						c.(559-561)tcgfs		BCL2-like 11 (apoptosis facilitator)																																				SO:0001589	frameshift_variant	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.chr2:111921771_111921772insA	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.561dupA	2.37:g.111921772_111921772dupA	ENSP00000376943:p.Arg188fs		Somatic				BCL2L11_ENST00000308659.8_Frame_Shift_Ins_p.S127fs	p.S187fs	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			4	833_834	+			187					A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Frame_Shift_Ins	INS	ENST00000393256.3	37	c.560_561insA	CCDS2089.1																																																																																				0.436	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254022.3			37	75						37	75	---	---	---	---	A	111921772	-	A	111921771	7	5	38	1	0	1	1	0	0	0	0	0	1369	1764	61	0	699	0	BCL2L11	2	111921771	Frame_Shift_Ins	INS	-	TCGA-N9-A4Q8-01A-31D-A28R-08	3052862	111921771	131277602	9	3745										
COL4A4	1286	broad.mit.edu	37	chr2	227896894	227896894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	tgggggacctttctttccacGaggacctggaggagagattc	14	9	1	1			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr2:227896894G>A	ENST00000396625.3	-	39	3883	c.3676C>T	c.(3676-3678)Cgt>Tgt	p.R1226C	COL4A4_ENST00000329662.7_Missense_Mutation_p.R1226C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1226	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)		TTCTTTCCACGAGGACCTGGA	0.527																																						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.(3676-3678)Cgt>Tgt		collagen, type IV, alpha 4							70	72	71					2																	227896894		1839	4083	5922	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227896894G>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.3676C>T	2.37:g.227896894G>A	ENSP00000379866:p.Arg1226Cys		Somatic				COL4A4_ENST00000329662.7_Missense_Mutation_p.R1226C	p.R1226C	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)	39	3883	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1226			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.3676C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	g	3.629	-0.075933	0.07184	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94330	-3.4;-3.32	5.5	0.308	0.15815	.	.	.	.	.	D	0.89501	0.6733	M	0.62209	1.925	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.79555	-0.1755	9	0.59425	D	0.04	.	3.6729	0.08280	0.5783:0.0:0.2672:0.1545	.	1226	P53420	CO4A4_HUMAN	C	1226	ENSP00000379866:R1226C;ENSP00000328553:R1226C	ENSP00000328553:R1226C	R	-	1	0	COL4A4	227605138	0.001000	0.12720	0.000000	0.03702	0.019000	0.09904	0.599000	0.24089	-0.171000	0.10797	-0.295000	0.09555	CGT		0.527	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		38	31	0	0	0	1	0	38	31					A	227896894	G	A	227896894	3	1	38	1	0	0	0	0	1	0	0	0	3695	1058	37	1	1436	1	COL4A4	2	227896894	Missense_Mutation	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08	115975123	227896894	15302479	10	3746										
SLC4A7	9497	broad.mit.edu	37	chr3	27475588	27475588	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	gaagctatcatgttgtctaaTaccatatctattcaatgaaa	5	7	4	1			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr3:27475588T>A	ENST00000295736.5	-	6	640	c.570A>T	c.(568-570)gtA>gtT	p.V190V	SLC4A7_ENST00000454389.1_Silent_p.V199V|SLC4A7_ENST00000446700.1_Silent_p.V195V|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000425128.2_Silent_p.V195V|SLC4A7_ENST00000440156.1_Silent_p.V199V|SLC4A7_ENST00000437179.1_Silent_p.V195V|SLC4A7_ENST00000428386.1_Silent_p.V190V|SLC4A7_ENST00000435667.2_Silent_p.V199V|SLC4A7_ENST00000445684.1_Silent_p.V199V|SLC4A7_ENST00000455077.1_Silent_p.V195V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	190					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)	TGTTGTCTAATACCATATCTA	0.323																																						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.(568-570)gtA>gtT		solute carrier family 4, sodium bicarbonate cotransporter, member 7							102	103	103					3																	27475588		2203	4300	6503	SO:0001819	synonymous_variant	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27475588T>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.570A>T	3.37:g.27475588T>A			Somatic				SLC4A7_ENST00000440156.1_Silent_p.V199V|SLC4A7_ENST00000455077.1_Silent_p.V195V|SLC4A7_ENST00000435667.2_Silent_p.V199V|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000428386.1_Silent_p.V190V|SLC4A7_ENST00000437179.1_Silent_p.V195V|SLC4A7_ENST00000445684.1_Silent_p.V199V|SLC4A7_ENST00000446700.1_Silent_p.V195V|SLC4A7_ENST00000454389.1_Silent_p.V199V|SLC4A7_ENST00000425128.2_Silent_p.V195V	p.V190V	NM_003615.4	NP_003606.3	WXS	Illumina GAIIx	Phase_I	Q9Y6M7	S4A7_HUMAN			6	640	-			190					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	ENST00000295736.5	37	c.570A>T	CCDS33721.1																																																																																				0.323	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		4	29	0	0	0	1	0	4	29					A	27475588	T	A	27475588	2	1	38	1	0	0	0	0	0	0	0	1	14673	1393	49	4		4	SLC4A7	3	27475588	Silent	SNP	T	TCGA-N9-A4Q8-01A-31D-A28R-08		27475588	170546842	11	3747										
HHIP	64399	broad.mit.edu	37	chr4	145580927	145580927	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	tatgtgaagatacttaccccTgaaggagaaattttcaagga	9	6	1	4			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr4:145580927T>C	ENST00000296575.3	+	4	1423	c.768T>C	c.(766-768)ccT>ccC	p.P256P	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Silent_p.P256P	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	256					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)		TACTTACCCCTGAAGGAGAAA	0.428																																						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.(766-768)ccT>ccC		hedgehog interacting protein							90	100	97					4																	145580927		2203	4300	6503	SO:0001819	synonymous_variant	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145580927T>C	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.768T>C	4.37:g.145580927T>C			Somatic				HHIP_ENST00000434550.2_Silent_p.P256P|HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA	p.P256P	NM_022475.2	NP_071920.1	WXS	Illumina GAIIx	Phase_I	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	4	1423	+	all_hematologic(180;0.151)		256					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Silent	SNP	ENST00000296575.3	37	c.768T>C	CCDS3762.1																																																																																				0.428	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			58	72	0	0	0	1	0	58	72					C	145580927	T	C	145580927	2	2	38	1	0	0	0	0	0	0	0	1	7101	1567	55	4		4	HHIP	4	145580927	Silent	SNP	T	TCGA-N9-A4Q8-01A-31D-A28R-08		145580927	45573349	12	3748										
PRPF4B	8899	broad.mit.edu	37	chr6	4021681	4021681	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	tggccgccgcggagacccagTcgctacgggagcagccagag	16	14	0	2			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:4021681T>G	ENST00000337659.6	+	1	122	c.22T>G	c.(22-24)Tcg>Gcg	p.S8A	PRPF4B_ENST00000538861.1_5'Flank|RP3-406P24.4_ENST00000606564.1_lincRNA|RP3-406P24.3_ENST00000415144.1_RNA	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	8					mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GGAGACCCAGTCGCTACGGGA	0.662																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(22-24)Tcg>Gcg		pre-mRNA processing factor 4B							16	16	16					6																	4021681		2183	4276	6459	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4021681T>G	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"PRP4 pre-mRNA processing factor 4 homolog B (yeast)"			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.22T>G	6.37:g.4021681T>G	ENSP00000337194:p.Ser8Ala		Somatic					p.S8A	NM_003913.4	NP_003904.3	WXS	Illumina GAIIx	Phase_I	Q13523	PRP4B_HUMAN			1	122	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	8					A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.22T>G	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	T	7.088	0.571609	0.13623	.	.	ENSG00000112739	ENST00000337659	T	0.64991	-0.13	5.06	-0.463	0.12164	.	0.722331	0.12367	N	0.475173	T	0.16300	0.0392	N	0.14661	0.345	0.23150	N	0.998216	B	0.02656	0.0	B	0.01281	0.0	T	0.26121	-1.0112	10	0.20519	T	0.43	.	5.4308	0.16452	0.0:0.23:0.5077:0.2622	.	8	Q13523	PRP4B_HUMAN	A	8	ENSP00000337194:S8A	ENSP00000337194:S8A	S	+	1	0	PRPF4B	3966680	0.441000	0.25626	0.100000	0.21137	0.289000	0.27227	-0.183000	0.09712	-0.046000	0.13446	0.533000	0.62120	TCG		0.662	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			11	10	0	0	0	1	0	11	10					G	4021681	T	G	4021681	3	3	38	1	0	0	0	0	1	0	0	0	12585	1667	58	4	24	4	PRPF4B	6	4021681	Missense_Mutation	SNP	T	TCGA-N9-A4Q8-01A-31D-A28R-08		4021681	167093386	13	3749										
GFOD1	54438	broad.mit.edu	37	chr6	13365867	13365867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	cgtccagcggcgtggccgtgCggtcgcagatgacgttcttg	16	12	1	2			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:13365867C>T	ENST00000379287.3	-	2	945	c.281G>A	c.(280-282)cGc>cAc	p.R94H	GFOD1_ENST00000379284.1_5'UTR	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	94						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			CGTGGCCGTGCGGTCGCAGAT	0.657																																						ENST00000379287.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18						c.(280-282)cGc>cAc		glucose-fructose oxidoreductase domain containing 1							47	49	48					6																	13365867		2199	4283	6482	SO:0001583	missense	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13365867C>T	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 114"	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.281G>A	6.37:g.13365867C>T	ENSP00000368589:p.Arg94His		Somatic				GFOD1_ENST00000379284.1_5'UTR	p.R94H	NM_018988.3	NP_061861.1	WXS	Illumina GAIIx	Phase_I	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		2	945	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	94					A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	c.281G>A	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.223312	0.79464	.	.	ENSG00000145990	ENST00000379287	T	0.22743	1.94	5.2	4.33	0.51752	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	L	0.51422	1.61	0.58432	D	0.999995	P	0.46512	0.879	P	0.50109	0.631	T	0.01262	-1.1402	10	0.87932	D	0	-2.569	12.5599	0.56275	0.0:0.9197:0.0:0.0803	.	94	Q9NXC2	GFOD1_HUMAN	H	94	ENSP00000368589:R94H	ENSP00000368589:R94H	R	-	2	0	GFOD1	13473846	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.064000	0.71169	1.180000	0.42898	0.650000	0.86243	CGC		0.657	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		32	74	0	0	0	1	0	32	74					T	13365867	C	T	13365867	3	4	38	1	0	0	0	0	1	0	0	0	6351	768	27	1	895	1	GFOD1	6	13365867	Missense_Mutation	SNP	C	TCGA-N9-A4Q8-01A-31D-A28R-08	9344186	13365867	157749200	14	3750										
HLA-DRA	3122	broad.mit.edu	37	chr6	32410986	32410986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	tccagaggtaactgtgctcaCaaacagccctgtggaactga	10	11	1	2	rs61117681	byFrequency	TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:32410986C>T	ENST00000395388.2	+	3	462	c.353C>T	c.(352-354)aCa>aTa	p.T118I	HLA-DRA_ENST00000374982.5_Intron	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	118	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						ACTGTGCTCACAAACAGCCCT	0.512									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																													ENST00000395388.2																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(352-354)aCa>aTa		major histocompatibility complex, class II, DR alpha							111	80	91					6																	32410986		1511	2709	4220	SO:0001583	missense	3122	T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32410986C>T		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000395388.2:c.353C>T	6.37:g.32410986C>T	ENSP00000378786:p.Thr118Ile		Somatic				HLA-DRA_ENST00000374982.5_Intron	p.T118I	NM_019111.4	NP_061984.2	WXS	Illumina GAIIx	Phase_I	P01903	DRA_HUMAN			3	462	+			118			Alpha-2.|Ig-like C1-type.		A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000395388.2	37	c.353C>T	CCDS4750.1	.	.	.	.	.	.	.	.	.	.	.	13.55	2.270329	0.40194	.	.	ENSG00000204287	ENST00000395388	T	0.00608	6.25	5.59	3.53	0.40419	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.193380	0.05833	N	0.617951	T	0.00356	0.0011	L	0.45352	1.415	0.20703	N	0.999864	B	0.20459	0.045	B	0.34038	0.174	T	0.48969	-0.8987	10	0.66056	D	0.02	.	8.6289	0.33906	0.0:0.787:0.0:0.213	.	118	P01903	DRA_HUMAN	I	118	ENSP00000378786:T118I	ENSP00000378786:T118I	T	+	2	0	HLA-DRA	32518964	0.011000	0.17503	0.001000	0.08648	0.167000	0.22549	2.595000	0.46197	0.856000	0.35383	0.638000	0.83543	ACA		0.512	HLA-DRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076586.2	NM_019111		7	57	0	0	0	1	0	7	57					T	32410986	C	T	32410986	3	4	38	1	0	0	0	0	1	0	0	0	7216	478	17	3	363	3	HLA-DRA	6	32410986	Missense_Mutation	SNP	C	TCGA-N9-A4Q8-01A-31D-A28R-08	19045119	32410986	138704081	15	3751										
HTR1E	3354	broad.mit.edu	37	chr6	87725129	87725129	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	cactgagaagatgctcatttGcatgactctggtggtcatca	10	9	4	3			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:87725129G>T	ENST00000305344.5	+	2	780	c.77G>T	c.(76-78)tGc>tTc	p.C26F		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	26					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	ATGCTCATTTGCATGACTCTG	0.498																																						ENST00000305344.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(76-78)tGc>tTc		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)						157	126	136					6																	87725129		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725129G>T		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.77G>T	6.37:g.87725129G>T	ENSP00000307766:p.Cys26Phe		Somatic				HTR1E_ENST00000369584.1_Missense_Mutation_p.C26F	p.C26F	NM_000865.2	NP_000856.1	WXS	Illumina GAIIx	Phase_I	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	780	+		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)	26					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.77G>T	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308334	0.23821	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.33438	1.41;1.41	4.4	3.53	0.40419	.	0.521467	0.16463	U	0.213336	T	0.06280	0.0162	N	0.08118	0	0.19945	N	0.999943	B	0.14012	0.009	B	0.10450	0.005	T	0.34453	-0.9828	10	0.28530	T	0.3	.	13.2069	0.59803	0.0:0.7884:0.2116:0.0	.	26	P28566	5HT1E_HUMAN	F	26	ENSP00000307766:C26F;ENSP00000358597:C26F	ENSP00000307766:C26F	C	+	2	0	HTR1E	87781848	0.990000	0.36364	0.972000	0.41901	0.821000	0.46438	2.894000	0.48640	0.971000	0.38288	0.508000	0.49915	TGC		0.498	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		49	41	1	0	2.43139e-17	1	2.66139e-17	49	41					T	87725129	G	T	87725129	3	4	38	1	0	0	0	0	1	0	0	0	7448	1319	46	5	79	5	HTR1E	6	87725129	Missense_Mutation	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08	55314143	87725129	83389938	16	3752										
BCLAF1	9774	broad.mit.edu	37	chr6	136589310	136589310	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	tttcacttacaaaggttcctCgtggtcggctaactcctgca	8	12	1	0	rs548504420		TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:136589310C>G	ENST00000531224.1	-	10	2639	c.2387G>C	c.(2386-2388)cGa>cCa	p.R796P	BCLAF1_ENST00000392348.2_Missense_Mutation_p.R794P|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R794P|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R623P|BCLAF1_ENST00000031135.9_Missense_Mutation_p.R14P|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R796P|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R794P	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	796					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAAGGTTCCTCGTGGTCGGCT	0.358																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2386-2388)cGa>cCa		BCL2-associated transcription factor 1							169	160	163					6																	136589310		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136589310C>G	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2387G>C	6.37:g.136589310C>G	ENSP00000435210:p.Arg796Pro		Somatic				BCLAF1_ENST00000031135.9_Missense_Mutation_p.R14P|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R794P|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R794P|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R794P|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R796P|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R623P	p.R796P	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)	10	2639	-	Colorectal(23;0.24)		796					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2387G>C	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512908	0.85389	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348	T;T;T;T;T;T;T	0.55052	2.26;2.64;2.65;1.99;2.25;0.54;2.64	5.5	5.5	0.81552	.	0.000000	0.50627	D	0.000110	T	0.64204	0.2577	L	0.49126	1.545	0.54753	D	0.999984	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.998	D;D;D;D;D	0.91635	0.995;0.999;0.995;0.995;0.986	T	0.66618	-0.5878	10	0.87932	D	0	-3.812	19.3908	0.94581	0.0:1.0:0.0:0.0	.	794;124;794;796;623	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;.;BCLF1_HUMAN;.	P	796;794;796;623;794;14;794	ENSP00000435210:R796P;ENSP00000229446:R794P;ENSP00000435441:R796P;ENSP00000436501:R623P;ENSP00000434826:R794P;ENSP00000031135:R14P;ENSP00000376159:R794P	ENSP00000031135:R14P	R	-	2	0	BCLAF1	136631003	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.585000	0.60977	2.602000	0.87976	0.484000	0.47621	CGA		0.358	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		48	77	0	0	0	1	0	48	77					G	136589310	C	G	136589310	3	3	38	1	0	0	0	0	1	0	0	0	1383	884	31	2	391	2	BCLAF1	6	136589310	Missense_Mutation	SNP	C	TCGA-N9-A4Q8-01A-31D-A28R-08	48864181	136589310	34525757	17	3753										
BCLAF1	9774	broad.mit.edu	37	chr6	136597335	136597335	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	tttctctattgcctttcagtGaaactttggacttgtacttg	7	8	2	1			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:136597335G>C	ENST00000531224.1	-	5	1580	c.1328C>G	c.(1327-1329)tCa>tGa	p.S443*	BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.S441*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.S441*|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.S443*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.S441*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	443					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)		GCCTTTCAGTGAAACTTTGGA	0.398																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1327-1329)tCa>tGa		BCL2-associated transcription factor 1							161	162	161					6																	136597335		2203	4300	6503	SO:0001587	stop_gained	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597335G>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1328C>G	6.37:g.136597335G>C	ENSP00000435210:p.Ser443*		Somatic				BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.S441*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.S441*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.S441*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.S443*|BCLAF1_ENST00000530767.1_Intron	p.S443*	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	1580	-	Colorectal(23;0.24)		443					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	c.1328C>G	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	37	6.340519	0.97489	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	.	.	.	5.21	5.21	0.72293	.	0.132448	0.34986	N	0.003525	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-4.198	12.5417	0.56174	0.0763:0.0:0.9237:0.0	.	.	.	.	X	443;441;443;441;441;443	.	ENSP00000229446:S441X	S	-	2	0	BCLAF1	136639028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.715000	0.61909	2.611000	0.88343	0.644000	0.83932	TCA		0.398	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		32	135	0	0	0	1	0	32	135					C	136597335	G	C	136597335	4	2	38	1	0	0	0	0	0	1	0	0	1383	1294	45	2	1470	2	BCLAF1	6	136597335	Nonsense_Mutation	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08	8025	136597335	34517732	18	3754										
TNFAIP3	7128	broad.mit.edu	37	chr6	138200072	138200072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	gcacaacggattttgtgaacGttgccacaacgcccggcaac	10	13	0	1	rs201074555		TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:138200072G>A	ENST00000237289.4	+	7	1556	c.1490G>A	c.(1489-1491)cGt>cAt	p.R497H		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	497	Interaction with TNIP1. {ECO:0000250}.				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)		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)		TTTTGTGAACGTTGCCACAAC	0.597			"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"		25	Whole gene deletion(25)	p.0?(25)	haematopoietic_and_lymphoid_tissue(25)	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.(1489-1491)cGt>cAt		tumor necrosis factor, alpha-induced protein 3		G	HIS/ARG	0,4406		0,0,2203	46	48	47		1490	5.8	1	6		47	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TNFAIP3	NM_006290.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	497/791	138200072	2,13004	2203	4300	6503	SO:0001583	missense	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.chr6:138200072G>A	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.1490G>A	6.37:g.138200072G>A	ENSP00000237289:p.Arg497His		Somatic					p.R497H	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)	7	1556	+	Breast(32;0.135)|Colorectal(23;0.24)		497			Interaction with NAF1 (By similarity).		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	c.1490G>A	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676096	0.88445	0.0	2.33E-4	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.43294	0.95	5.79	5.79	0.91817	Zinc finger, A20-type (3);	0.000000	0.85682	D	0.000000	T	0.31231	0.0790	N	0.24115	0.695	0.80722	D	1	D	0.53151	0.958	P	0.49999	0.628	T	0.04440	-1.0951	10	0.46703	T	0.11	-17.7496	18.2081	0.89861	0.0:0.0:1.0:0.0	.	497	P21580	TNAP3_HUMAN	H	497	ENSP00000237289:R497H	ENSP00000237289:R497H	R	+	2	0	TNFAIP3	138241765	1.000000	0.71417	0.968000	0.41197	0.942000	0.58702	8.856000	0.92245	2.731000	0.93534	0.655000	0.94253	CGT		0.597	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			8	61	0	0	0	1	0	8	61					A	138200072	G	A	138200072	3	1	38	1	0	0	0	0	1	0	0	0	16289	1145	40	1	1512	1	TNFAIP3	6	138200072	Missense_Mutation	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08	1602737	138200072	32914995	19	3755										
DNAH11	8701	broad.mit.edu	37	chr7	21805153	21805153	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	tggtttcatgcgtggccgcaGgaggctctggtctccgtcag	15	11	4	0			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr7:21805153G>A	ENST00000409508.3	+	55	9079	c.9048G>A	c.(9046-9048)caG>caA	p.Q3016Q	DNAH11_ENST00000328843.6_Silent_p.Q3023Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3023	AAA 4. {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						CGTGGCCGCAGGAGGCTCTGG	0.542									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.(9067-9069)caG>caA		dynein, axonemal, heavy chain 11							90	91	90					7																	21805153		2058	4201	6259	SO:0001819	synonymous_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.chr7:21805153G>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.9048G>A	7.37:g.21805153G>A			Somatic				DNAH11_ENST00000409508.3_Silent_p.Q3016Q	p.Q3023Q			WXS	Illumina GAIIx	Phase_I	Q96DT5	DYH11_HUMAN			56	9100	+			3023			AAA 4 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.9069G>A																																																																																					0.542	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		15	41	0	0	0	1	0	15	41					A	21805153	G	A	21805153	2	1	38	1	0	0	0	0	0	0	0	1	4601	991	35	3		3	DNAH11	7	21805153	Silent	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08		21805153	137333510	20	3756										
ZNF804B	219578	broad.mit.edu	37	chr7	88963677	88963677	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	ctcttcaatggcctacggaaCttctgctctttacaaaaaca	5	12	4	0			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr7:88963677C>A	ENST00000333190.4	+	4	1990	c.1381C>A	c.(1381-1383)Ctt>Att	p.L461I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	461							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)			GCCTACGGAACTTCTGCTCTT	0.423										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.(1381-1383)Ctt>Att		zinc finger protein 804B							74	70	71					7																	88963677		2199	4300	6499	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963677C>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1381C>A	7.37:g.88963677C>A	ENSP00000329638:p.Leu461Ile	HNSCC(36;0.09)	Somatic					p.L461I	NM_181646.2	NP_857597.1	WXS	Illumina GAIIx	Phase_I	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1990	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		461					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1381C>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003782	0.74932	.	.	ENSG00000182348	ENST00000333190	T	0.12672	2.66	5.49	5.49	0.81192	.	0.000000	0.53938	D	0.000043	T	0.38134	0.1029	M	0.77820	2.39	0.49483	D	0.999799	D	0.89917	1.0	D	0.87578	0.998	T	0.07328	-1.0778	10	0.72032	D	0.01	-15.9533	13.231	0.59943	0.0:0.9186:0.0:0.0814	.	461	A4D1E1	Z804B_HUMAN	I	461	ENSP00000329638:L461I	ENSP00000329638:L461I	L	+	1	0	ZNF804B	88801613	1.000000	0.71417	0.998000	0.56505	0.822000	0.46500	4.534000	0.60622	2.865000	0.98341	0.655000	0.94253	CTT		0.423	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		17	39	1	0	1.37285e-15	1	1.48268e-15	17	39					A	88963677	C	A	88963677	3	1	38	1	0	0	0	0	1	0	0	0	18186	565	20	5	1395	5	ZNF804B	7	88963677	Missense_Mutation	SNP	C	TCGA-N9-A4Q8-01A-31D-A28R-08	67158524	88963677	70174986	21	3757										
PPP1R3A	5506	broad.mit.edu	37	chr7	113518497	113518497	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	ctttgataattcttgaacctGcctaagatctctgttttctg	6	9	3	3			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr7:113518497G>A	ENST00000284601.3	-	4	2718	c.2650C>T	c.(2650-2652)Cag>Tag	p.Q884*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	884					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						TCTTGAACCTGCCTAAGATCT	0.368																																						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.(2650-2652)Cag>Tag		protein phosphatase 1, regulatory subunit 3A							90	87	88					7																	113518497		2203	4299	6502	SO:0001587	stop_gained	5506				glycogen metabolic process	integral to membrane		g.chr7:113518497G>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.2650C>T	7.37:g.113518497G>A	ENSP00000284601:p.Gln884*		Somatic					p.Q884*	NM_002711.3	NP_002702.2	WXS	Illumina GAIIx	Phase_I	Q16821	PPR3A_HUMAN			4	2718	-			884					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	ENST00000284601.3	37	c.2650C>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569453	0.45798	.	.	ENSG00000154415	ENST00000284601	.	.	.	5.81	2.79	0.32731	.	0.461129	0.19977	N	0.101852	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	0.1833	4.5173	0.11940	0.0662:0.2615:0.3373:0.3349	.	.	.	.	X	884	.	ENSP00000284601:Q884X	Q	-	1	0	PPP1R3A	113305733	0.052000	0.20516	0.001000	0.08648	0.003000	0.03518	0.741000	0.26202	0.707000	0.31934	-0.188000	0.12872	CAG		0.368	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		9	48	0	0	0	1	0	9	48					A	113518497	G	A	113518497	4	1	38	1	0	0	0	0	0	1	0	0	12383	1328	46	3	722	3	PPP1R3A	7	113518497	Nonsense_Mutation	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08	24554820	113518497	45620166	22	3758										
GIMAP1	170575	broad.mit.edu	37	chr7	150417642	150417642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	tggtggccgagtgcgggggcCgggtctgtgcctttgataac	18	9	1	1			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr7:150417642C>T	ENST00000307194.5	+	3	690	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	184	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)		GTGCGGGGGCCGGGTCTGTGC	0.677																																						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.(550-552)Cgg>Tgg		GTPase, IMAP family member 1							31	38	35					7																	150417642		2202	4299	6501	SO:0001583	missense	170575							g.chr7:150417642C>T	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"GTPases, IMAP"	23237	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 2"	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.550C>T	7.37:g.150417642C>T	ENSP00000302833:p.Arg184Trp		Somatic					p.R184W	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	690	+								B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.550C>T	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168944	0.38315	.	.	ENSG00000213203	ENST00000307194	T	0.22945	1.93	4.81	2.84	0.33178	AIG1 (1);	0.080126	0.44097	U	0.000497	T	0.61912	0.2385	H	0.97465	4.01	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59273	-0.7485	10	0.87932	D	0	.	9.8215	0.40885	0.4043:0.5957:0.0:0.0	.	184	Q8WWP7	GIMA1_HUMAN	W	184	ENSP00000302833:R184W	ENSP00000302833:R184W	R	+	1	2	GIMAP1	150048575	0.030000	0.19436	0.662000	0.29724	0.180000	0.23129	0.237000	0.17985	1.202000	0.43218	0.650000	0.86243	CGG		0.677	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		19	44	0	0	0	1	0	19	44					T	150417642	C	T	150417642	3	4	38	1	0	0	0	0	1	0	0	0	6387	643	23	1	556	1	GIMAP1	7	150417642	Missense_Mutation	SNP	C	TCGA-N9-A4Q8-01A-31D-A28R-08	36899145	150417642	8721021	23	3759										
ZMAT4	79698	broad.mit.edu	37	chr8	40438702	40438702	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	acttggtctggtgtttagatCctttcagatgggcatgatac	11	7	2	3			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr8:40438702C>G	ENST00000297737.6	-	6	802	c.656G>C	c.(655-657)gGa>gCa	p.G219A	ZMAT4_ENST00000315769.7_Missense_Mutation_p.G143A	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	219						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			GTGTTTAGATCCTTTCAGATG	0.408																																						ENST00000297737.6																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(655-657)gGa>gCa		zinc finger, matrin-type 4							209	167	181					8																	40438702		2203	4300	6503	SO:0001583	missense	79698					nucleus	DNA binding|zinc ion binding	g.chr8:40438702C>G	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"Zinc fingers, matrin-type"	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.656G>C	8.37:g.40438702C>G	ENSP00000297737:p.Gly219Ala		Somatic				ZMAT4_ENST00000315769.7_Missense_Mutation_p.G143A	p.G219A	NM_024645.2	NP_078921.1	WXS	Illumina GAIIx	Phase_I	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)		6	802	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	219					Q8WUT8	Missense_Mutation	SNP	ENST00000297737.6	37	c.656G>C	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765763	0.90020	.	.	ENSG00000165061	ENST00000315769;ENST00000297737	T;T	0.71103	-0.54;-0.54	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.051817	0.85682	D	0.000000	D	0.85548	0.5722	M	0.83384	2.64	0.52501	D	0.999951	D;D	0.89917	1.0;0.991	D;P	0.87578	0.998;0.737	D	0.87090	0.2172	10	0.72032	D	0.01	-20.5661	17.2157	0.86943	0.0:1.0:0.0:0.0	.	143;219	Q9H898-2;Q9H898	.;ZMAT4_HUMAN	A	143;219	ENSP00000319785:G143A;ENSP00000297737:G219A	ENSP00000297737:G219A	G	-	2	0	ZMAT4	40557859	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	5.992000	0.70609	2.648000	0.89879	0.655000	0.94253	GGA		0.408	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645		227	31	0	0	0	1	0	227	31					G	40438702	C	G	40438702	3	3	38	1	0	0	0	0	1	0	0	0	17709	855	30	2	41	2	ZMAT4	8	40438702	Missense_Mutation	SNP	C	TCGA-N9-A4Q8-01A-31D-A28R-08		40438702	105925320	24	3760										
HOOK3	84376	broad.mit.edu	37	chr8	42761327	42761327	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	tcccttcagatccagacattTaatgtggatgcaccatgcca	7	12	1	2			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr8:42761327T>A	ENST00000307602.4	+	2	269	c.69T>A	c.(67-69)ttT>ttA	p.F23L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	23	Sufficient for interaction with microtubules.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TCCAGACATTTAATGTGGATG	0.398			T	RET	papillary thyroid																																	ENST00000307602.4				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(67-69)ttT>ttA		hook microtubule-tethering protein 3							92	94	93					8																	42761327		2203	4300	6503	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42761327T>A	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.69T>A	8.37:g.42761327T>A	ENSP00000305699:p.Phe23Leu		Somatic					p.F23L	NM_032410.3	NP_115786.1	WXS	Illumina GAIIx	Phase_I	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		2	269	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	23			Sufficient for interaction with microtubules.		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.69T>A	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.664838	0.88251	.	.	ENSG00000168172	ENST00000307602	T	0.52983	0.64	5.5	5.5	0.81552	.	0.048532	0.85682	N	0.000000	T	0.59321	0.2185	L	0.43646	1.37	0.49130	D	0.999759	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.55547	-0.8124	10	0.31617	T	0.26	-10.3357	13.417	0.60974	0.0:0.0:0.0:1.0	.	23;23	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	L	23	ENSP00000305699:F23L	ENSP00000305699:F23L	F	+	3	2	HOOK3	42880484	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	2.875000	0.48491	2.206000	0.71126	0.528000	0.53228	TTT		0.398	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		8	290	0	0	0	1	0	8	290					A	42761327	T	A	42761327	3	1	38	1	0	0	0	0	1	0	0	0	7293	1751	61	4	75	4	HOOK3	8	42761327	Missense_Mutation	SNP	T	TCGA-N9-A4Q8-01A-31D-A28R-08	2322625	42761327	103602695	25	3761										
TOX	9760	broad.mit.edu	37	chr8	59851928	59851928	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	tggagactgtgatttcagggAggtccatgttttgtggatga	15	4	1	3			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr8:59851928A>G	ENST00000361421.1	-	3	564	c.344T>C	c.(343-345)cTc>cCc	p.L115P		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	115						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GATTTCAGGGAGGTCCATGTT	0.478																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(343-345)cTc>cCc		thymocyte selection-associated high mobility group box							138	130	133					8																	59851928		2203	4300	6503	SO:0001583	missense	9760					nucleus	DNA binding	g.chr8:59851928A>G		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.344T>C	8.37:g.59851928A>G	ENSP00000354842:p.Leu115Pro		Somatic					p.L115P	NM_014729.2	NP_055544.1	WXS	Illumina GAIIx	Phase_I	O94900	TOX_HUMAN			3	564	-		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)	115					Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	c.344T>C	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.722959	0.68959	.	.	ENSG00000198846	ENST00000361421	T	0.52295	0.67	5.62	5.62	0.85841	.	0.086423	0.48767	D	0.000174	T	0.66809	0.2827	M	0.69358	2.11	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.67201	-0.5730	9	.	.	.	.	15.8247	0.78690	1.0:0.0:0.0:0.0	.	115	O94900	TOX_HUMAN	P	115	ENSP00000354842:L115P	.	L	-	2	0	TOX	60014482	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.726000	0.84824	2.151000	0.67156	0.482000	0.46254	CTC		0.478	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		8	141	0	0	0	1	0	8	141					G	59851928	A	G	59851928	3	3	38	1	0	0	0	0	1	0	0	0	16392	304	11	4	1264	4	TOX	8	59851928	Missense_Mutation	SNP	A	TCGA-N9-A4Q8-01A-31D-A28R-08	17090601	59851928	86512094	26	3762										
KIAA1429	25962	broad.mit.edu	37	chr8	95518910	95518910	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	tgctccagttcagaaatagaAccttcagaagagcttggtaa	9	8	2	4			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr8:95518910A>T	ENST00000297591.5	-	16	3990	c.3915T>A	c.(3913-3915)ggT>ggA	p.G1305G	KIAA1429_ENST00000437199.1_Silent_p.G1305G	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1305					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)			CAGAAATAGAACCTTCAGAAG	0.393																																						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.(3913-3915)ggT>ggA		KIAA1429							74	79	78					8																	95518910		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95518910A>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.3915T>A	8.37:g.95518910A>T			Somatic				KIAA1429_ENST00000437199.1_Silent_p.G1305G	p.G1305G	NM_015496.4	NP_056311.2	WXS	Illumina GAIIx	Phase_I	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		16	3990	-	Breast(36;3.29e-05)		1305					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.3915T>A	CCDS34923.1																																																																																				0.393	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		19	132	0	0	0	1	0	19	132					T	95518910	A	T	95518910	2	4	38	1	0	0	0	0	0	0	0	1	8240	30	2	4		4	KIAA1429	8	95518910	Silent	SNP	A	TCGA-N9-A4Q8-01A-31D-A28R-08	35666982	95518910	50845112	27	3763										
ANXA13	312	broad.mit.edu	37	chr8	124693594	124693594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	tttgctttgatcccctgaagGtccacctgtagaaaaaataa	7	9	0	3			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr8:124693594G>T	ENST00000419625.1	-	11	909	c.837C>A	c.(835-837)gaC>gaA	p.D279E	ANXA13_ENST00000262219.6_Missense_Mutation_p.D320E	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	279					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)			TCCCCTGAAGGTCCACCTGTA	0.438																																						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.(958-960)gaC>gaA		annexin A13							142	151	148					8																	124693594		2203	4300	6503	SO:0001583	missense	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124693594G>T	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.837C>A	8.37:g.124693594G>T	ENSP00000390809:p.Asp279Glu		Somatic				ANXA13_ENST00000419625.1_Missense_Mutation_p.D279E	p.D320E	NM_001003954.1	NP_001003954.1	WXS	Illumina GAIIx	Phase_I	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		12	1027	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		279					Q9BQR5	Missense_Mutation	SNP	ENST00000419625.1	37	c.960C>A	CCDS47917.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177056	0.38413	.	.	ENSG00000104537	ENST00000262219;ENST00000419625	T;T	0.03553	3.89;3.89	5.57	3.46	0.39613	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.10594	0.0259	L	0.46670	1.46	0.47308	D	0.999384	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.01879	-1.1255	10	0.87932	D	0	.	7.7702	0.29004	0.2597:0.0:0.7403:0.0	.	279;320	P27216;P27216-2	ANX13_HUMAN;.	E	320;279	ENSP00000262219:D320E;ENSP00000390809:D279E	ENSP00000262219:D320E	D	-	3	2	ANXA13	124762775	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	1.594000	0.36697	1.370000	0.46153	-0.136000	0.14681	GAC		0.438	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		48	294	1	0	3.77016e-25	1	4.30117e-25	48	294					T	124693594	G	T	124693594	3	4	38	1	0	0	0	0	1	0	0	0	717	1252	44	5	117	5	ANXA13	8	124693594	Missense_Mutation	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08	29174684	124693594	21670428	28	3764										
EPPK1	83481	broad.mit.edu	37	chr8	144941352	144941352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	ggctgtttccagtgggagccGgtggtggtgctgtgggtcga	20	7	0	0			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr8:144941352G>A	ENST00000525985.1	-	2	6141	c.6070C>T	c.(6070-6072)Cgg>Tgg	p.R2024W				P58107	EPIPL_HUMAN	epiplakin 1	2024						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)			AGTGGGAGCCGGTGGTGGTGC	0.612																																						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.(6070-6072)Cgg>Tgg		epiplakin 1																																				SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941352G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6070C>T	8.37:g.144941352G>A	ENSP00000436337:p.Arg2024Trp		Somatic					p.R2024W			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	6141	-	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)		2024					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6070C>T		.	.	.	.	.	.	.	.	.	.	G	17.63	3.437112	0.62955	.	.	ENSG00000227184	ENST00000525985	T	0.79454	-1.27	4.68	4.68	0.58851	.	.	.	.	.	D	0.89382	0.6699	M	0.88241	2.94	0.39653	D	0.970492	D	0.89917	1.0	D	0.97110	1.0	D	0.91727	0.5393	9	0.66056	D	0.02	.	15.1066	0.72326	0.0:0.0:1.0:0.0	.	2024	E9PPU0	.	W	2024	ENSP00000436337:R2024W	ENSP00000436337:R2024W	R	-	1	2	EPPK1	145013340	1.000000	0.71417	0.991000	0.47740	0.191000	0.23601	2.309000	0.43699	2.424000	0.82194	0.585000	0.79938	CGG		0.612	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		6	100	0	0	0	1	0	6	100					A	144941352	G	A	144941352	3	1	38	1	0	0	0	0	1	0	0	0	5192	1115	39	1	1196	1	EPPK1	8	144941352	Missense_Mutation	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08	20247758	144941352	1422670	29	3765										
IGFBPL1	347252	broad.mit.edu	37	chr9	38411522	38411522	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	atggcactggtacacaccctCatcctcctttcgcagggggt	10	14	1	0			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr9:38411522C>A	ENST00000377694.1	-	4	734	c.712G>T	c.(712-714)Gag>Tag	p.E238*		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	238	Ig-like C2-type.				regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		TACACACCCTCATCCTCCTTT	0.448																																						ENST00000377694.1																			0				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(712-714)Gag>Tag		insulin-like growth factor binding protein-like 1							111	93	99					9																	38411522		2203	4300	6503	SO:0001587	stop_gained	347252				regulation of cell growth	extracellular region	insulin-like growth factor binding	g.chr9:38411522C>A		CCDS35017.1	9p12	2013-01-11			ENSG00000137142	ENSG00000137142		"Immunoglobulin superfamily / I-set domain containing"	20081	protein-coding gene	gene with protein product		610413					Standard	NM_001007563		Approved	bA113O24.1	uc004aaz.3	Q8WX77	OTTHUMG00000019937	ENST00000377694.1:c.712G>T	9.37:g.38411522C>A	ENSP00000366923:p.Glu238*		Somatic					p.E238*	NM_001007563.1	NP_001007564.1	WXS	Illumina GAIIx	Phase_I	Q8WX77	IBPL1_HUMAN		GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)	4	734	-			238			Ig-like C2-type.			Nonsense_Mutation	SNP	ENST00000377694.1	37	c.712G>T	CCDS35017.1	.	.	.	.	.	.	.	.	.	.	C	34	5.409099	0.96072	.	.	ENSG00000137142	ENST00000377694	.	.	.	6.17	5.26	0.73747	.	0.000000	0.46442	U	0.000299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-4.5459	13.397	0.60858	0.0:0.8426:0.1574:0.0	.	.	.	.	X	238	.	ENSP00000366923:E238X	E	-	1	0	IGFBPL1	38401522	0.798000	0.28890	0.967000	0.41034	0.825000	0.46686	1.813000	0.38962	1.585000	0.49928	0.655000	0.94253	GAG		0.448	IGFBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052491.1	XM_294567		11	17	1	0	1.08611e-07	1	1.14253e-07	11	17					A	38411522	C	A	38411522	4	1	38	1	0	0	0	0	0	1	0	0	7594	835	29	2	128	2	IGFBPL1	9	38411522	Nonsense_Mutation	SNP	C	TCGA-N9-A4Q8-01A-31D-A28R-08		38411522	102801909	30	3766										
ABCC2	1244	broad.mit.edu	37	chr10	101559103	101559103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	gctagtgaatgacatcttcaCgtttgtgagtcctcagctgc	10	10	3	3	rs149854486	byFrequency	TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr10:101559103C>T	ENST00000370449.4	+	8	1120	c.1007C>T	c.(1006-1008)aCg>aTg	p.T336M		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	336	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GACATCTTCACGTTTGTGAGT	0.473													C|||	2	0.000399361	0	0	5008	,	,		17571	0		0.002	False		,,,				2504	0					ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(1006-1008)aCg>aTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)		MET/THR	0,4406		0,0,2203	264	267	266		1007	-6.3	0	10	dbSNP_134	266	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ABCC2	NM_000392.3	81	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	336/1546	101559103	3,13003	2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101559103C>T	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1007C>T	10.37:g.101559103C>T	ENSP00000359478:p.Thr336Met		Somatic					p.T336M	NM_000392.3	NP_000383.1	WXS	Illumina GAIIx	Phase_I	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	8	1120	+		Colorectal(252;0.234)	336			ABC transmembrane type-1 1.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.1007C>T	CCDS7484.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.012	-1.667345	0.00765	0.0	3.49E-4	ENSG00000023839	ENST00000370449	D	0.89552	-2.53	5.76	-6.28	0.02020	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.876385	0.10308	N	0.690337	D	0.82314	0.5010	L	0.45137	1.4	0.09310	N	1	B	0.18863	0.031	B	0.19391	0.025	T	0.62006	-0.6945	10	0.17832	T	0.49	6.5695	15.7631	0.78103	0.0:0.3784:0.0:0.6216	.	336	Q92887	MRP2_HUMAN	M	336	ENSP00000359478:T336M	ENSP00000359478:T336M	T	+	2	0	ABCC2	101549093	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.012000	0.13287	-1.500000	0.01819	-0.459000	0.05422	ACG		0.473	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		15	183	0	0	0	1	0	15	183					T	101559103	C	T	101559103	3	4	38	1	0	0	0	0	1	0	0	0	53	536	19	1	1037	1	ABCC2	10	101559103	Missense_Mutation	SNP	C	TCGA-N9-A4Q8-01A-31D-A28R-08		101559103	33975644	31	3767										
FAM24B	196792	broad.mit.edu	37	chr10	124608784	124608784	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	cagaggccctcatttatgtcGcaacagcaaggtggcaggga	13	10	1	1			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr10:124608784G>A	ENST00000368898.3	-	4	554	c.264C>T	c.(262-264)tgC>tgT	p.C88C	CUZD1_ENST00000545804.1_Intron|FAM24B_ENST00000368896.1_Silent_p.C88C|FAM24B_ENST00000462859.1_5'UTR|CUZD1_ENST00000368904.1_5'UTR	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	88						extracellular region (GO:0005576)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		CATTTATGTCGCAACAGCAAG	0.448																																						ENST00000368898.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(262-264)tgC>tgT		family with sequence similarity 24, member B							117	98	104					10																	124608784		2203	4300	6503	SO:0001819	synonymous_variant	196792					extracellular region		g.chr10:124608784G>A	BC031343	CCDS31303.1	10q26.13	2004-05-27			ENSG00000213185	ENSG00000213185			23475	protein-coding gene	gene with protein product						12477932	Standard	NM_152644		Approved	MGC45962, AC073585.2	uc021qai.1	Q8N5W8	OTTHUMG00000019194	ENST00000368898.3:c.264C>T	10.37:g.124608784G>A			Somatic				FAM24B_ENST00000462859.1_5'UTR|CUZD1_ENST00000368904.1_5'UTR|FAM24B_ENST00000368896.1_Silent_p.C88C|CUZD1_ENST00000545804.1_Intron	p.C88C	NM_152644.2	NP_689857.2	WXS	Illumina GAIIx	Phase_I	Q8N5W8	FA24B_HUMAN		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)	4	554	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	88					Q5JPG1	Silent	SNP	ENST00000368898.3	37	c.264C>T	CCDS31303.1																																																																																				0.448	FAM24B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050825.1	NM_152644		14	41	0	0	0	1	0	14	41					A	124608784	G	A	124608784	2	1	38	1	0	0	0	0	0	0	0	1	5553	1079	38	1		1	FAM24B	10	124608784	Silent	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08	23049681	124608784	10925963	32	3768										
RRM1	6240	broad.mit.edu	37	chr11	4123271	4123272	+	Frame_Shift_Del	DEL	AG	AG	-													0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	caaaattacatctcgaatccAgaagctttgttatggactca							TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr11:4123271_4123272delAG	ENST00000300738.5	+	2	272_273	c.68_69delAG	c.(67-69)cagfs	p.Q23fs	RRM1_ENST00000423050.2_5'UTR	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	23	ATP-cone. {ECO:0000255|PROSITE- ProRule:PRU00492}.				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)	TCTCGAATCCAGAAGCTTTGTT	0.327																																					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.(67-69)cfs		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)																																			SO:0001589	frameshift_variant	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4123271_4123272delAG	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.68_69delAG	11.37:g.4123271_4123272delAG	ENSP00000300738:p.Gln23fs		Somatic				RRM1_ENST00000423050.2_5'UTR	p.Q23fs	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)	2	272_273	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	23			ATP-cone.		Q9UNN2	Frame_Shift_Del	DEL	ENST00000300738.5	37	c.68_69delAG	CCDS7750.1																																																																																				0.327	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		19	32						19	32	---	---	---	---	-	4123272	AG	-	4123271	7	5	38	1	0	1	0	1	0	0	0	0	13696	188	7	0	74	0	RRM1	11	4123271	Frame_Shift_Del	DEL	AG	TCGA-N9-A4Q8-01A-31D-A28R-08		4123271	130883245	33	3769										
GTF2H1	2965	broad.mit.edu	37	chr11	18369434	18369434	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	acatggatggaaattccggaGatgcagactgctttcagcca	11	9	1	2			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr11:18369434G>C	ENST00000265963.4	+	9	1181	c.1021G>C	c.(1021-1023)Gat>Cat	p.D341H	GTF2H1_ENST00000524753.4_Missense_Mutation_p.D137H|GTF2H1_ENST00000530496.2_Missense_Mutation_p.D29H|GTF2H1_ENST00000453096.2_Missense_Mutation_p.D341H|GTF2H1_ENST00000534641.1_Missense_Mutation_p.D225H	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	341					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)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AAATTCCGGAGATGCAGACTG	0.393								Nucleotide excision repair (NER)																														ENST00000265963.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(1021-1023)Gat>Cat	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 1, 62kDa							67	67	67					11																	18369434		2199	4293	6492	SO:0001583	missense	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.chr11:18369434G>C		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.1021G>C	11.37:g.18369434G>C	ENSP00000265963:p.Asp341His		Somatic				GTF2H1_ENST00000534641.1_Missense_Mutation_p.D225H|GTF2H1_ENST00000524753.4_Missense_Mutation_p.D137H|GTF2H1_ENST00000530496.2_Missense_Mutation_p.D29H|GTF2H1_ENST00000453096.2_Missense_Mutation_p.D341H	p.D341H	NM_005316.3	NP_005307.1	WXS	Illumina GAIIx	Phase_I	P32780	TF2H1_HUMAN			9	1181	+			341					B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	c.1021G>C	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528478	0.64860	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000524753;ENST00000530496	T;T;T;T;T	0.52983	1.76;1.76;1.76;0.83;0.64	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.56046	0.1959	L	0.47716	1.5	0.80722	D	1	D	0.57257	0.979	P	0.51777	0.679	T	0.58544	-0.7618	10	0.72032	D	0.01	-21.6265	19.5504	0.95315	0.0:0.0:1.0:0.0	.	341	P32780	TF2H1_HUMAN	H	341;225;341;137;29	ENSP00000393638:D341H;ENSP00000435375:D225H;ENSP00000265963:D341H;ENSP00000436575:D137H;ENSP00000433133:D29H	ENSP00000265963:D341H	D	+	1	0	GTF2H1	18326010	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.197000	0.94985	2.617000	0.88574	0.561000	0.74099	GAT		0.393	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316		6	44	0	0	0	1	0	6	44					C	18369434	G	C	18369434	3	2	38	1	0	0	0	0	1	0	0	0	6869	942	33	2	1051	2	GTF2H1	11	18369434	Missense_Mutation	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08	14246163	18369434	116637082	34	3770										
C11orf1	64776	broad.mit.edu	37	chr11	111753232	111753232	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	cgatgcaccactaatgagaaTacctattcaaaccgtaccct	5	13	1	1			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr11:111753232T>C	ENST00000260276.3	+	2	523	c.186T>C	c.(184-186)aaT>aaC	p.N62N	C11orf1_ENST00000528125.1_Silent_p.N16N|C11orf1_ENST00000530214.1_Silent_p.N62N|C11orf1_ENST00000529270.1_Silent_p.N102N	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	62						nucleus (GO:0005634)				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		CTAATGAGAATACCTATTCAA	0.463																																						ENST00000260276.3																			0				kidney(2)|lung(3)	5						c.(184-186)aaT>aaC		chromosome 11 open reading frame 1							134	117	122					11																	111753232		2201	4297	6498	SO:0001819	synonymous_variant	64776					nucleus		g.chr11:111753232T>C	AJ250229	CCDS8350.1	11q23.1	2012-05-30			ENSG00000137720	ENSG00000137720			1163	protein-coding gene	gene with protein product						10873569	Standard	NM_022761		Approved	FLJ23499	uc001pmd.3	Q9H5F2	OTTHUMG00000166884	ENST00000260276.3:c.186T>C	11.37:g.111753232T>C			Somatic				C11orf1_ENST00000530214.1_Silent_p.N62N|C11orf1_ENST00000528125.1_Silent_p.N16N|C11orf1_ENST00000529270.1_Silent_p.N102N	p.N62N	NM_022761.2	NP_073598.1	WXS	Illumina GAIIx	Phase_I	Q9H5F2	CK001_HUMAN		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)	2	523	+		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)	62					Q6I9X7|Q9NQC6	Silent	SNP	ENST00000260276.3	37	c.186T>C	CCDS8350.1																																																																																				0.463	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391650.1	NM_022761		10	27	0	0	0	1	0	10	27					C	111753232	T	C	111753232	2	2	38	1	0	0	0	0	0	0	0	1	1631	1403	49	4		4	C11orf1	11	111753232	Silent	SNP	T	TCGA-N9-A4Q8-01A-31D-A28R-08	93383798	111753232	23253284	35	3771										
PKNOX2	63876	broad.mit.edu	37	chr11	125301240	125301240	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	gaggtcgacgagctgcagacGacaaatgtcagcgacctggg	15	10	1	1			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr11:125301240G>A	ENST00000298282.9	+	13	1642	c.1371G>A	c.(1369-1371)acG>acA	p.T457T	PKNOX2_ENST00000542175.1_Silent_p.T393T|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	457					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)		AGCTGCAGACGACAAATGTCA	0.582																																						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.(1369-1371)acG>acA		PBX/knotted 1 homeobox 2							52	59	56					11																	125301240		2172	4255	6427	SO:0001819	synonymous_variant	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125301240G>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1371G>A	11.37:g.125301240G>A			Somatic				PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Silent_p.T393T	p.T457T	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)	13	1642	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	457					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Silent	SNP	ENST00000298282.9	37	c.1371G>A	CCDS41730.1																																																																																				0.582	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			28	20	0	0	0	1	0	28	20					A	125301240	G	A	125301240	2	1	38	1	0	0	0	0	0	0	0	1	11992	1045	37	1		1	PKNOX2	11	125301240	Silent	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08	13548008	125301240	9705276	36	3772										
ITGA5	3678	broad.mit.edu	37	chr12	54799462	54799462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	actcacccatccccattgacGtctgtggcggccactgcata	8	16	2	1	rs553785363		TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr12:54799462G>A	ENST00000293379.4	-	11	1263	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	334					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCCCATTGACGTCTGTGGCGG	0.547													G|||	1	0.000199681	0	0	5008	,	,		17906	0		0	False		,,,				2504	0.001					ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(1000-1002)gaC>gaT		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							85	73	77					12																	54799462		2203	4300	6503	SO:0001819	synonymous_variant	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54799462G>A		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1002C>T	12.37:g.54799462G>A			Somatic				RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.D334D	NM_002205.2	NP_002196.2	WXS	Illumina GAIIx	Phase_I	P08648	ITA5_HUMAN			11	1263	-			334					Q96HA5	Silent	SNP	ENST00000293379.4	37	c.1002C>T	CCDS8880.1																																																																																				0.547	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			43	35	0	0	0	1	0	43	35					A	54799462	G	A	54799462	2	1	38	1	0	0	0	0	0	0	0	1	7888	1136	40	1		1	ITGA5	12	54799462	Silent	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08		54799462	79052433	37	3773										
OR10A7	121364	broad.mit.edu	37	chr12	55615303	55615303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	cagacagcttggatgatggcCcttcctttctgtggaccaaa	10	11	1	2			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr12:55615303C>T	ENST00000326258.1	+	1	495	c.495C>T	c.(493-495)gcC>gcT	p.A165A		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GGATGATGGCCCTTCCTTTCT	0.473																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(493-495)gcC>gcT		olfactory receptor, family 10, subfamily A, member 7							183	156	165					12																	55615303		2203	4300	6503	SO:0001819	synonymous_variant	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615303C>T	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.495C>T	12.37:g.55615303C>T			Somatic					p.A165A	NM_001005280.1	NP_001005280.1	WXS	Illumina GAIIx	Phase_I	Q8NGE5	O10A7_HUMAN			1	495	+			165					Q6IFD5|Q96R19	Silent	SNP	ENST00000326258.1	37	c.495C>T	CCDS31815.1																																																																																				0.473	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			9	44	0	0	0	1	0	9	44					T	55615303	C	T	55615303	2	4	38	1	0	0	0	0	0	0	0	1	10904	610	22	3		3	OR10A7	12	55615303	Silent	SNP	C	TCGA-N9-A4Q8-01A-31D-A28R-08	815841	55615303	78236592	38	3774										
RPH3A	22895	broad.mit.edu	37	chr12	113285511	113285515	+	Frame_Shift_Del	DEL	GGCTG	GGCTG	-													0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	ttcctttcaggctccaggcaGgctggtccgtccaccccggt							TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr12:113285511_113285515delGGCTG	ENST00000389385.4	+	5	591_595	c.94_98delGGCTG	c.(94-99)ggctggfs	p.GW32fs	RPH3A_ENST00000543106.2_Frame_Shift_Del_p.GW32fs|RPH3A_ENST00000551052.1_Frame_Shift_Del_p.GW28fs|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000415485.3_Frame_Shift_Del_p.GW32fs|RPH3A_ENST00000420983.2_Frame_Shift_Del_p.GW32fs	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	32					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)		GCTCCAGGCAGGCTGGTCCGTCCAC	0.537																																						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.(94-99)gfs		rabphilin 3A homolog (mouse)																																				SO:0001589	frameshift_variant	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113285511_113285515delGGCTG	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.94_98delGGCTG	12.37:g.113285511_113285515delGGCTG	ENSP00000374036:p.Gly32fs		Somatic				RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000415485.3_Frame_Shift_Del_p.GW32fs|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000551052.1_Frame_Shift_Del_p.GW28fs|RPH3A_ENST00000420983.2_Frame_Shift_Del_p.GW32fs|RPH3A_ENST00000543106.2_Frame_Shift_Del_p.GW32fs	p.GW32fs	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)	5	591_595	+			32					B7Z3C3|Q96AE0	Frame_Shift_Del	DEL	ENST00000389385.4	37	c.94_98delGGCTG	CCDS44979.1																																																																																				0.537	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		25	33						25	33	---	---	---	---	-	113285515	GGCTG	-	113285511	7	5	38	1	0	1	0	1	0	0	0	0	13566	1000	35	0	104	0	RPH3A	12	113285511	Frame_Shift_Del	DEL	GGCTG	TCGA-N9-A4Q8-01A-31D-A28R-08	57670208	113285511	20566384	39	3775										
NCOR2	9612	broad.mit.edu	37	chr12	124911256	124911256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	catggggtcggccataagccCgttcatgttgatgaacttga	12	9	1	3			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr12:124911256C>T	ENST00000405201.1	-	11	1240	c.1240G>A	c.(1240-1242)Ggg>Agg	p.G414R	NCOR2_ENST00000397355.1_Missense_Mutation_p.G414R|NCOR2_ENST00000404621.1_Missense_Mutation_p.G413R|NCOR2_ENST00000429285.2_Missense_Mutation_p.G413R|NCOR2_ENST00000356219.3_Missense_Mutation_p.G414R|NCOR2_ENST00000404121.2_5'UTR			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	414					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCCATAAGCCCGTTCATGTTG	0.572																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1240-1242)Ggg>Agg		nuclear receptor corepressor 2							93	99	97					12																	124911256		2108	4216	6324	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124911256C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1240G>A	12.37:g.124911256C>T	ENSP00000384018:p.Gly414Arg		Somatic				NCOR2_ENST00000405201.1_Missense_Mutation_p.G414R|NCOR2_ENST00000429285.2_Missense_Mutation_p.G413R|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000404621.1_Missense_Mutation_p.G413R|NCOR2_ENST00000397355.1_Missense_Mutation_p.G414R	p.G414R	NM_006312.5	NP_006303.4	WXS	Illumina GAIIx	Phase_I	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	12	1395	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		414					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.1240G>A	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	c	16.93	3.259334	0.59321	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	4.95	4.95	0.65309	.	0.183903	0.47093	D	0.000252	T	0.61999	0.2392	L	0.54323	1.7	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	0.65232	-0.6218	10	0.87932	D	0	-46.4991	18.5814	0.91172	0.0:1.0:0.0:0.0	.	413;414;414	C9J0Q5;C9J239;C9JFD3	.;.;.	R	414;413;414;414;414;413;414;414	ENSP00000384018:G414R;ENSP00000384202:G413R;ENSP00000348551:G414R;ENSP00000380513:G414R;ENSP00000400281:G413R;ENSP00000402808:G414R;ENSP00000405367:G414R	ENSP00000348551:G414R	G	-	1	0	NCOR2	123477209	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.792000	0.85828	2.462000	0.83206	0.556000	0.70494	GGG		0.572	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		24	42	0	0	0	1	0	24	42					T	124911256	C	T	124911256	3	4	38	1	0	0	0	0	1	0	0	0	10245	652	23	1	6476	1	NCOR2	12	124911256	Missense_Mutation	SNP	C	TCGA-N9-A4Q8-01A-31D-A28R-08	11625745	124911256	8940639	40	3776										
FAM123A	219287	broad.mit.edu	37	chr13	25744725	25744725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	gacagaggcagggtctggggCggcgggcgcccggccgctgc	21	13	1	1			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr13:25744725C>T	ENST00000515384.1	-	1	1700	c.1033G>A	c.(1033-1035)Gcc>Acc	p.A345T	AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Intron|AMER2_ENST00000357816.2_Intron			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	345					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)										GGGTCTggggcggcgggcgcc	0.627																																						ENST00000515384.1																			0											c.(1033-1035)Gcc>Acc		APC membrane recruitment protein 2							18	22	20					13																	25744725		1013	2118	3131	SO:0001583	missense	219287							g.chr13:25744725C>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"-"	26360	protein-coding gene	gene with protein product		614659	"family with sequence similarity 123A"	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1033G>A	13.37:g.25744725C>T	ENSP00000426528:p.Ala345Thr		Somatic				AMER2_ENST00000381853.3_Intron|AMER2_ENST00000357816.2_Intron	p.A345T			WXS	Illumina GAIIx	Phase_I					1	1700	-								Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.1033G>A	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	2.987	-0.209079	0.06140	.	.	ENSG00000165566	ENST00000515384	T	0.25749	1.78	3.47	1.68	0.24146	.	.	.	.	.	T	0.12561	0.0305	L	0.34521	1.04	0.43545	D	0.995847	P	0.38110	0.618	B	0.26614	0.071	T	0.18023	-1.0350	9	0.15499	T	0.54	.	7.187	0.25804	0.0:0.7283:0.173:0.0987	.	345	Q8N7J2	F123A_HUMAN	T	345	ENSP00000426528:A345T	ENSP00000426528:A345T	A	-	1	0	FAM123A	24642725	0.060000	0.20803	0.415000	0.26534	0.130000	0.20726	0.677000	0.25262	0.187000	0.20147	-0.502000	0.04539	GCC		0.627	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		8	18	0	0	0	1	0	8	18					T	25744725	C	T	25744725	3	4	38	1	0	0	0	0	1	0	0	0	5427	768	27	1	986	1	FAM123A	13	25744725	Missense_Mutation	SNP	C	TCGA-N9-A4Q8-01A-31D-A28R-08		25744725	89425153	41	3777										
LCP1	3936	broad.mit.edu	37	chr13	46733004	46733004	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	tccttccatcttggtccagaTcacctgtagccatcaggttt	7	13	3	1			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr13:46733004T>A	ENST00000398576.2	-	6	573	c.185A>T	c.(184-186)gAt>gTt	p.D62V	LCP1_ENST00000323076.2_Missense_Mutation_p.D62V|LCP1_ENST00000460190.1_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	62	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)		TTGGTCCAGATCACCTGTAGC	0.418			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.(184-186)gAt>gTt		lymphocyte cytosolic protein 1 (L-plastin)							210	195	200					13																	46733004		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.chr13:46733004T>A	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.185A>T	13.37:g.46733004T>A	ENSP00000381581:p.Asp62Val		Somatic				LCP1_ENST00000323076.2_Missense_Mutation_p.D62V	p.D62V			WXS	Illumina GAIIx	Phase_I	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	6	573	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	62			EF-hand 2.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.185A>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601763	0.87055	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500;ENST00000442275	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	5.76	5.76	0.90799	EF-hand-like domain (1);	0.187398	0.53938	D	0.000042	D	0.94476	0.8222	M	0.83483	2.645	0.80722	D	1	P	0.39094	0.659	P	0.53689	0.732	D	0.94301	0.7537	10	0.51188	T	0.08	-29.5131	14.3097	0.66407	0.0:0.0:0.0:1.0	.	62	P13796	PLSL_HUMAN	V	62	ENSP00000315757:D62V;ENSP00000381581:D62V;ENSP00000408052:D62V;ENSP00000402157:D62V	ENSP00000315757:D62V	D	-	2	0	LCP1	45631005	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.725000	0.61979	2.324000	0.78689	0.533000	0.62120	GAT		0.418	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		70	57	0	0	0	1	0	70	57					A	46733004	T	A	46733004	3	1	38	1	0	0	0	0	1	0	0	0	8700	1435	50	4	1754	4	LCP1	13	46733004	Missense_Mutation	SNP	T	TCGA-N9-A4Q8-01A-31D-A28R-08	20988279	46733004	68436874	42	3778										
C14orf145	145508	broad.mit.edu	37	chr14	81244369	81244369	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	acgatgaattttagccatatTcttctcttctaaactttcag	4	9	4	1			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr14:81244369T>C	ENST00000555265.1	-	16	2608	c.2233A>G	c.(2233-2235)Aat>Gat	p.N745D	CEP128_ENST00000281129.3_Missense_Mutation_p.N745D			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	745						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						TTAGCCATATTCTTCTCTTCT	0.363																																						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.(2233-2235)Aat>Gat		centrosomal protein 128kDa							82	83	83					14																	81244369		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81244369T>C	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.2233A>G	14.37:g.81244369T>C	ENSP00000451162:p.Asn745Asp		Somatic				CEP128_ENST00000281129.3_Missense_Mutation_p.N745D	p.N745D			WXS	Illumina GAIIx	Phase_I	Q6ZU80	CE128_HUMAN			16	2608	-			745					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.2233A>G	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.293613	0.60086	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.32988	1.43;1.43	4.97	4.97	0.65823	.	0.137318	0.48767	D	0.000165	T	0.28134	0.0694	L	0.50333	1.59	0.80722	D	1	P	0.46859	0.885	B	0.40066	0.318	T	0.04281	-1.0963	10	0.31617	T	0.26	.	12.875	0.57986	0.0:0.0:0.0:1.0	.	745	Q6ZU80	CE128_HUMAN	D	745	ENSP00000281129:N745D;ENSP00000451162:N745D	ENSP00000281129:N745D	N	-	1	0	CEP128	80314122	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	3.307000	0.51888	1.855000	0.53841	0.533000	0.62120	AAT		0.363	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		25	24	0	0	0	1	0	25	24					C	81244369	T	C	81244369	3	2	38	1	0	0	0	0	1	0	0	0	1751	1783	62	4	1091	4	C14orf145	14	81244369	Missense_Mutation	SNP	T	TCGA-N9-A4Q8-01A-31D-A28R-08		81244369	26105171	43	3779										
TGM5	9333	broad.mit.edu	37	chr15	43531185	43531185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	ccatcgaaaacacaaagggcGtgtcatagttcaggtccact	9	11	2	0	rs141830093	byFrequency	TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr15:43531185G>A	ENST00000220420.5	-	9	1182	c.1175C>T	c.(1174-1176)aCg>aTg	p.T392M	TGM5_ENST00000349114.4_Missense_Mutation_p.T310M	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	392					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CACAAAGGGCGTGTCATAGTT	0.557													G|||	3	0.000599042	0	0	5008	,	,		20282	0.001		0	False		,,,				2504	0.002					ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(1174-1176)aCg>aTg		transglutaminase 5	L-Glutamine(DB00130)	G	MET/THR,MET/THR	0,4404		0,0,2202	157	118	131		929,1175	4.1	0.4	15	dbSNP_134	131	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	TGM5	NM_004245.3,NM_201631.3	81,81	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	310/639,392/721	43531185	1,13001	2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43531185G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1175C>T	15.37:g.43531185G>A	ENSP00000220420:p.Thr392Met		Somatic				TGM5_ENST00000349114.4_Missense_Mutation_p.T310M	p.T392M	NM_201631.3	NP_963925.2	WXS	Illumina GAIIx	Phase_I	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	9	1182	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	392					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.1175C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	6.614	0.481651	0.12581	0.0	1.16E-4	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.63255	-0.03;-0.03	5.02	4.11	0.48088	.	0.260506	0.38164	N	0.001787	T	0.69744	0.3145	L	0.48362	1.52	0.21579	N	0.99963	D;D	0.89917	1.0;1.0	D;D	0.76575	0.983;0.988	T	0.59794	-0.7387	10	0.30078	T	0.28	-13.3662	11.2112	0.48799	0.0885:0.0:0.9115:0.0	.	310;392	O43548-2;O43548	.;TGM5_HUMAN	M	392;310;391	ENSP00000220420:T392M;ENSP00000220419:T310M	ENSP00000220420:T392M	T	-	2	0	TGM5	41318477	0.034000	0.19679	0.383000	0.26132	0.000000	0.00434	0.971000	0.29396	1.363000	0.46019	-0.253000	0.11424	ACG		0.557	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		4	40	0	0	0	1	0	4	40					A	43531185	G	A	43531185	3	1	38	1	0	0	0	0	1	0	0	0	15848	1145	40	1	1007	1	TGM5	15	43531185	Missense_Mutation	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08		43531185	59000207	44	3780										
SOLH	6650	broad.mit.edu	37	chr16	601377	601377	+	Frame_Shift_Del	DEL	C	C	-													0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	tacgagagcctgggcctgcgCccccggcatgcctactccat							TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr16:601377delC	ENST00000219611.2	+	8	2505	c.2142delC	c.(2140-2142)cgcfs	p.R714fs	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	714	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TGGGCCTGCGCCCCCGGCATG	0.682																																						ENST00000219611.2																			0											c.(2140-2142)cgfs		calpain 15							51	61	58					16																	601377		2200	4297	6497	SO:0001589	frameshift_variant	6650							g.chr16:601377delC	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2142delC	16.37:g.601377delC	ENSP00000219611:p.Arg714fs		Somatic				LA16c-366D1.3_ENST00000565879.1_RNA	p.R714fs	NM_005632.2	NP_005623.1	WXS	Illumina GAIIx	Phase_I					8	2505	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Frame_Shift_Del	DEL	ENST00000219611.2	37	c.2142delC	CCDS10410.1																																																																																				0.682	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		55	62						55	62	---	---	---	---	-	601377	C	-	601377	7	5	38	1	0	1	0	1	0	0	0	0	14940	726	26	0	2160	0	SOLH	16	601377	Frame_Shift_Del	DEL	C	TCGA-N9-A4Q8-01A-31D-A28R-08		601377	89753376	45	3781										
TP53	7157	broad.mit.edu	37	chr17	7573982	7573982	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	agcctgggcatccttgagttCcaaggcctcattcagctctc	9	14	3	1			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr17:7573982C>A	ENST00000269305.4	-	10	1234	c.1045G>T	c.(1045-1047)Gaa>Taa	p.E349*	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E349*|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	349	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		E -> D (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.E349*(11)|p.0?(8)|p.L348_E349>F*(2)|p.E349fs*21(2)|p.?(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCCTTGAGTTCCAAGGCCTCA	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)	ENST00000269305.4		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		25	Substitution - Nonsense(11)|Whole gene deletion(8)|Deletion - Frameshift(3)|Complex - compound substitution(2)|Unknown(1)	p.E349*(11)|p.0?(8)|p.L348_E349>F*(2)|p.E349fs*21(2)|p.?(1)|p.I332fs*5(1)	lung(6)|bone(4)|central_nervous_system(3)|large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|skin(2)|stomach(1)|urinary_tract(1)|ovary(1)|breast(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.(1045-1047)Gaa>Taa	Other conserved DNA damage response genes	tumor protein p53							62	48	52					17																	7573982		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7573982C>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.1045G>T	17.37:g.7573982C>A	ENSP00000269305:p.Glu349*	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_Nonsense_Mutation_p.E349*|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron	p.E349*	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	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1234	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	349		E -> D (in a sporadic cancer; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1045G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	38	7.072789	0.98044	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-35.1174	13.3529	0.60611	0.159:0.841:0.0:0.0	.	.	.	.	X	349;349;338	.	ENSP00000269305:E349X	E	-	1	0	TP53	7514707	1.000000	0.71417	0.837000	0.33122	0.960000	0.62799	4.805000	0.62561	1.268000	0.44264	0.561000	0.74099	GAA		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	4	1	0	4.43304e-23	1	4.98716e-23	28	4					A	7573982	C	A	7573982	4	1	38	1	0	0	0	0	0	1	0	0	16396	864	30	2	144	2	TP53	17	7573982	Nonsense_Mutation	SNP	C	TCGA-N9-A4Q8-01A-31D-A28R-08		7573982	73621228	46	3782										
SPOP	8405	broad.mit.edu	37	chr17	47696405	47696405	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	ggcctcatccaaaagaaaatCtctacggatgaatttcttga	7	9	3	3			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr17:47696405C>A	ENST00000393328.2	-	6	783	c.418G>T	c.(418-420)Gat>Tat	p.D140Y	SPOP_ENST00000393331.3_Missense_Mutation_p.D140Y|SPOP_ENST00000347630.2_Missense_Mutation_p.D140Y|SPOP_ENST00000504102.1_Missense_Mutation_p.D140Y|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.D140Y	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	140	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.D140N(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AAAAGAAAATCTCTACGGATG	0.463										Prostate(2;0.17)																												ENST00000393331.3																			1	Substitution - Missense(1)	p.D140N(1)	endometrium(1)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(418-420)Gat>Tat		speckle-type POZ protein							112	114	113					17																	47696405		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696405C>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.418G>T	17.37:g.47696405C>A	ENSP00000377001:p.Asp140Tyr	Prostate(2;0.17)	Somatic				SPOP_ENST00000504102.1_Missense_Mutation_p.D140Y|SPOP_ENST00000503676.1_Missense_Mutation_p.D140Y|SPOP_ENST00000393328.2_Missense_Mutation_p.D140Y|SPOP_ENST00000347630.2_Missense_Mutation_p.D140Y	p.D140Y	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	O43791	SPOP_HUMAN			7	888	-			140			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.418G>T	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933732	0.92458	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970	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	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.75975	0.3923	M	0.91768	3.24	0.80722	D	1	D	0.56287	0.975	D	0.69654	0.965	T	0.80991	-0.1135	10	0.87932	D	0	-8.0833	18.9712	0.92715	0.0:1.0:0.0:0.0	.	140	O43791	SPOP_HUMAN	Y	140;140;140;140;24;140;93;140;140;140	ENSP00000377001:D140Y;ENSP00000377004:D140Y;ENSP00000240327:D140Y;ENSP00000425905:D140Y;ENSP00000420908:D140Y;ENSP00000426986:D140Y;ENSP00000420960:D140Y;ENSP00000426262:D140Y	ENSP00000240327:D140Y	D	-	1	0	SPOP	45051404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.644000	0.83416	2.802000	0.96397	0.563000	0.77884	GAT		0.463	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		108	9	1	0	1.85599e-38	1	2.14764e-38	108	9					A	47696405	C	A	47696405	3	1	38	1	0	0	0	0	1	0	0	0	15099	913	32	2	730	2	SPOP	17	47696405	Missense_Mutation	SNP	C	TCGA-N9-A4Q8-01A-31D-A28R-08	40122423	47696405	33498805	47	3783										
GMIP	51291	broad.mit.edu	37	chr19	19741121	19741121	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	gagactgtgtccccaggagtGagtcctctgggccttggctg	15	11	1	2			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr19:19741121G>C	ENST00000203556.4	-	21	2701	c.2564C>G	c.(2563-2565)tCa>tGa	p.S855*	GMIP_ENST00000587238.1_Nonsense_Mutation_p.S829*|LPAR2_ENST00000407877.3_5'Flank|LPAR2_ENST00000589311.1_5'Flank|GMIP_ENST00000445806.2_Nonsense_Mutation_p.S826*|LPAR2_ENST00000586703.1_5'Flank|LPAR2_ENST00000542587.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	855					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						CCCCAGGAGTGAGTCCTCTGG	0.607																																						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.(2563-2565)tCa>tGa		GEM interacting protein							44	50	48					19																	19741121		2203	4300	6503	SO:0001587	stop_gained	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19741121G>C	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.2564C>G	19.37:g.19741121G>C	ENSP00000203556:p.Ser855*		Somatic				GMIP_ENST00000445806.2_Nonsense_Mutation_p.S826*|GMIP_ENST00000587238.1_Nonsense_Mutation_p.S829*	p.S855*	NM_016573.2	NP_057657.2	WXS	Illumina GAIIx	Phase_I	Q9P107	GMIP_HUMAN			21	2701	-			855					A0AVN9|B7ZLZ0	Nonsense_Mutation	SNP	ENST00000203556.4	37	c.2564C>G	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	G	34	5.386470	0.95967	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	.	.	.	5.29	0.619	0.17630	.	1.004140	0.08032	N	0.993756	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-0.0992	7.3862	0.26884	0.3702:0.0:0.6298:0.0	.	.	.	.	X	855;826	.	ENSP00000203556:S855X	S	-	2	0	GMIP	19602121	0.488000	0.25996	0.019000	0.16419	0.628000	0.37860	1.651000	0.37302	-0.046000	0.13446	-0.459000	0.05422	TCA		0.607	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		18	69	0	0	0	1	0	18	69					C	19741121	G	C	19741121	4	2	38	1	0	0	0	0	0	1	0	0	6499	1294	45	2	352	2	GMIP	19	19741121	Nonsense_Mutation	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08		19741121	39387862	48	3784										
TRPM4	54795	broad.mit.edu	37	chr19	49713575	49713575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	cgctggccccgccctttatcGtcatctcccacttgcgcctc	7	20	2	0			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr19:49713575G>A	ENST00000252826.5	+	21	3367	c.3241G>A	c.(3241-3243)Gtc>Atc	p.V1081I	TRPM4_ENST00000355712.5_Missense_Mutation_p.V727I|TRPM4_ENST00000427978.2_Missense_Mutation_p.V936I	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1081	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)		GCCCTTTATCGTCATCTCCCA	0.642																																						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.(3241-3243)Gtc>Atc		transient receptor potential cation channel, subfamily M, member 4							58	57	57					19																	49713575		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.chr19:49713575G>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.3241G>A	19.37:g.49713575G>A	ENSP00000252826:p.Val1081Ile		Somatic				TRPM4_ENST00000427978.2_Missense_Mutation_p.V936I|TRPM4_ENST00000355712.5_Missense_Mutation_p.V727I	p.V1081I	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)	21	3367	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	1081			Calmodulin-binding.		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.3241G>A	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	4.459	0.085097	0.08583	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.53640	0.61;0.61;0.61	5.34	-4.92	0.03075	.	0.233189	0.42420	N	0.000704	T	0.07548	0.0190	N	0.00191	-1.88	0.27152	N	0.961383	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.001;0.002;0.001;0.0	T	0.32052	-0.9921	10	0.02654	T	1	-12.3764	5.0618	0.14560	0.3198:0.1105:0.4618:0.1079	.	727;907;936;1081	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	I	1081;936;727	ENSP00000252826:V1081I;ENSP00000407492:V936I;ENSP00000347944:V727I	ENSP00000252826:V1081I	V	+	1	0	TRPM4	54405387	0.023000	0.18921	0.411000	0.26484	0.670000	0.39368	-0.390000	0.07332	-1.294000	0.02360	-0.658000	0.03865	GTC		0.642	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		13	130	0	0	0	1	0	13	130					A	49713575	G	A	49713575	3	1	38	1	0	0	0	0	1	0	0	0	16603	1145	40	1	3323	1	TRPM4	19	49713575	Missense_Mutation	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08	29972454	49713575	9415408	49	3785										
LILRA4	23547	broad.mit.edu	37	chr19	54848852	54848852	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	gggaggccatcggccccctcCttgtacagagtgtatctgat	12	12	1	2			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr19:54848852C>A	ENST00000291759.4	-	5	827	c.771G>T	c.(769-771)aaG>aaT	p.K257N	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	257	Ig-like C2-type 3.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				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)		CGGCCCCCTCCTTGTACAGAG	0.672																																						ENST00000291759.4																			0				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.(769-771)aaG>aaT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							23	27	26					19																	54848852		2203	4298	6501	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54848852C>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.771G>T	19.37:g.54848852C>A	ENSP00000291759:p.Lys257Asn		Somatic					p.K257N	NM_012276.3	NP_036408.3	WXS	Illumina GAIIx	Phase_I	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	5	827	-	Ovarian(34;0.19)		257			Ig-like C2-type 3.		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.771G>T	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	13.23	2.174579	0.38413	.	.	ENSG00000239961	ENST00000291759	T	0.18960	2.18	2.51	1.46	0.22682	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.844176	0.10040	N	0.723631	T	0.58652	0.2137	H	0.98542	4.26	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.41910	-0.9482	10	0.87932	D	0	.	5.2527	0.15531	0.0:0.831:0.0:0.169	.	257	P59901	LIRA4_HUMAN	N	257	ENSP00000291759:K257N	ENSP00000291759:K257N	K	-	3	2	LILRA4	59540664	0.000000	0.05858	0.062000	0.19696	0.031000	0.12232	-0.412000	0.07132	0.619000	0.30197	0.455000	0.32223	AAG		0.672	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		10	68	1	0	7.48243e-07	1	7.77021e-07	10	68					A	54848852	C	A	54848852	3	1	38	1	0	0	0	0	1	0	0	0	8796	680	24	5	744	5	LILRA4	19	54848852	Missense_Mutation	SNP	C	TCGA-N9-A4Q8-01A-31D-A28R-08	5135277	54848852	4280131	50	3786										
CST2	1470	broad.mit.edu	37	chr20	23807168	23807168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	aaagtgaagggcacgctgtaCccgctcatcattgaggtctg	12	10	3	2			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr20:23807168C>T	ENST00000304725.2	-	1	200	c.130G>A	c.(130-132)Gta>Ata	p.V44I		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	44					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						GCACGCTGTACCCGCTCATCA	0.592																																					Pancreas(193;496 3017 22514 29918)	ENST00000304725.2																			0				breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						c.(130-132)Gta>Ata		cystatin SA							133	107	116					20																	23807168		2203	4300	6503	SO:0001583	missense	1470					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23807168C>T	M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"cystatin 2"	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.130G>A	20.37:g.23807168C>T	ENSP00000307540:p.Val44Ile		Somatic					p.V44I	NM_001322.2	NP_001313.1	WXS	Illumina GAIIx	Phase_I	P09228	CYTT_HUMAN			1	200	-			44					Q9UCQ7	Missense_Mutation	SNP	ENST00000304725.2	37	c.130G>A	CCDS13161.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269295	0.40095	.	.	ENSG00000170369	ENST00000304725	T	0.30714	1.52	2.05	2.05	0.26809	Proteinase inhibitor I25, cystatin (2);	0.358722	0.26007	N	0.026919	T	0.43743	0.1261	M	0.63843	1.955	0.09310	N	1	P	0.52842	0.956	P	0.62435	0.902	T	0.09930	-1.0652	10	0.54805	T	0.06	.	7.5846	0.27985	0.0:1.0:0.0:0.0	.	44	P09228	CYTT_HUMAN	I	44	ENSP00000307540:V44I	ENSP00000307540:V44I	V	-	1	0	CST2	23755168	0.021000	0.18746	0.012000	0.15200	0.016000	0.09150	0.938000	0.28965	1.157000	0.42530	0.298000	0.19748	GTA		0.592	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2			29	37	0	0	0	1	0	29	37					T	23807168	C	T	23807168	3	4	38	1	0	0	0	0	1	0	0	0	3974	507	18	3	307	3	CST2	20	23807168	Missense_Mutation	SNP	C	TCGA-N9-A4Q8-01A-31D-A28R-08		23807168	39218352	51	3787										
GART	2618	broad.mit.edu	37	chr21	34878390	34878390	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	ttggttcccgagtactgtctAtaagtgcttgcaggttcgat	11	8	1	0			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr21:34878390A>G	ENST00000381831.3	-	19	2737	c.2474T>C	c.(2473-2475)aTa>aCa	p.I825T	GART_ENST00000381839.3_Missense_Mutation_p.I825T|GART_ENST00000543717.1_Missense_Mutation_p.I377T|GART_ENST00000381815.4_Missense_Mutation_p.I825T	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	825	GART.				'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)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AGTACTGTCTATAAGTGCTTG	0.428																																						ENST00000381831.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.(2473-2475)aTa>aCa		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)						103	95	98					21																	34878390		2203	4300	6503	SO:0001583	missense	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.chr21:34878390A>G	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.2474T>C	21.37:g.34878390A>G	ENSP00000371253:p.Ile825Thr		Somatic				GART_ENST00000543717.1_Missense_Mutation_p.I377T|GART_ENST00000381839.3_Missense_Mutation_p.I825T|GART_ENST00000381815.4_Missense_Mutation_p.I825T	p.I825T	NM_001136005.1	NP_001129477.1	WXS	Illumina GAIIx	Phase_I	P22102	PUR2_HUMAN			19	2737	-			825			GART.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	c.2474T>C	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.561339	0.65538	.	.	ENSG00000159131	ENST00000414353;ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	6.17	6.17	0.99709	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	M	0.92219	3.285	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.92882	0.6324	10	0.87932	D	0	-27.4985	16.8222	0.85835	1.0:0.0:0.0:0.0	.	825	P22102	PUR2_HUMAN	T	89;825;825;825;377	ENSP00000371236:I825T;ENSP00000371253:I825T;ENSP00000371261:I825T;ENSP00000443579:I377T	ENSP00000371236:I825T	I	-	2	0	GART	33800260	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	7.951000	0.87819	2.371000	0.80710	0.533000	0.62120	ATA		0.428	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		29	55	0	0	0	1	0	29	55					G	34878390	A	G	34878390	3	3	38	1	0	0	0	0	1	0	0	0	6251	449	16	4	574	4	GART	21	34878390	Missense_Mutation	SNP	A	TCGA-N9-A4Q8-01A-31D-A28R-08		34878390	13251505	52	3788										
BRWD1	54014	broad.mit.edu	37	chr21	40571181	40571181	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	ccgcaaatcactttctgactCtgagtctctgttttcagatt	6	11	5	3			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr21:40571181C>T	ENST00000333229.2	-	40	5488	c.5161G>A	c.(5161-5163)Gag>Aag	p.E1721K	BRWD1_ENST00000380800.3_Missense_Mutation_p.E1721K|BRWD1_ENST00000342449.3_Missense_Mutation_p.E1721K	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1721					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)				CTTTCTGACTCTGAGTCTCTG	0.398																																					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.(5161-5163)Gag>Aag		bromodomain and WD repeat domain containing 1							98	92	94					21																	40571181		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40571181C>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.5161G>A	21.37:g.40571181C>T	ENSP00000330753:p.Glu1721Lys		Somatic				BRWD1_ENST00000380800.3_Missense_Mutation_p.E1721K|BRWD1_ENST00000333229.2_Missense_Mutation_p.E1721K	p.E1721K	NM_033656.3	NP_387505.1	WXS	Illumina GAIIx	Phase_I	Q9NSI6	BRWD1_HUMAN			40	5239	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1721					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.5161G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013026	0.75161	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.58358	0.34;0.39;0.46	5.51	5.51	0.81932	.	0.092230	0.47093	D	0.000251	T	0.56366	0.1980	M	0.70275	2.135	0.80722	D	1	P;P	0.45902	0.868;0.682	B;B	0.41510	0.359;0.197	T	0.61907	-0.6966	10	0.49607	T	0.09	-6.8515	17.6316	0.88109	0.0:1.0:0.0:0.0	.	1721;1721	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	K	1721	ENSP00000330753:E1721K;ENSP00000344333:E1721K;ENSP00000370178:E1721K	ENSP00000330753:E1721K	E	-	1	0	BRWD1	39493051	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.312000	0.51927	2.593000	0.87608	0.655000	0.94253	GAG		0.398	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		35	48	0	0	0	1	0	35	48					T	40571181	C	T	40571181	3	4	38	1	0	0	0	0	1	0	0	0	1527	922	32	3	2052	3	BRWD1	21	40571181	Missense_Mutation	SNP	C	TCGA-N9-A4Q8-01A-31D-A28R-08	5692791	40571181	7558714	53	3789										
U2AF1	7307	broad.mit.edu	37	chr21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	tcggtttattgtgcaaccgaGagcacctgtctccatgacga	10	11	1	2	rs371769427		TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"CLL, MDS"																																	ENST00000291552.4				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"CLL, MDS"		57	Substitution - Missense(57)	p.S34F(45)|p.S34Y(12)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(100-102)tCt>tTt		U2 small nuclear RNA auxiliary factor 1		G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67	64	65		101,101,	5.5	1	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44524456G>A	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe		Somatic				U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR	p.S34F	NM_006758.2	NP_006749.1	WXS	Illumina GAIIx	Phase_I	Q01081	U2AF1_HUMAN			2	193	-			34					Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.101C>T	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		13	26	0	0	0	1	0	13	26					A	44524456	G	A	44524456	3	1	38	1	0	0	0	0	1	0	0	0	16836	942	33	3	720	3	U2AF1	21	44524456	Missense_Mutation	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08	3953275	44524456	3605439	54	3790										
PKDREJ	10343	broad.mit.edu	37	chr22	46654307	46654307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	tgcaatacttgggtttattcGttctgaagcctgacaggagt	11	7	1	2	rs370600000		TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr22:46654307G>A	ENST00000253255.5	-	1	4912	c.4913C>T	c.(4912-4914)aCg>aTg	p.T1638M		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1638					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)		GGGTTTATTCGTTCTGAAGCC	0.393													G|||	1	0.000199681	8e-04	0	5008	,	,		20147	0		0	False		,,,				2504	0					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.(4912-4914)aCg>aTg		polycystin (PKD) family receptor for egg jelly		G	MET/THR	0,4406		0,0,2203	90	86	88		4913	0.3	0	22		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	PKDREJ	NM_006071.1	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1638/2254	46654307	1,13005	2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654307G>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.4913C>T	22.37:g.46654307G>A	ENSP00000253255:p.Thr1638Met		Somatic					p.T1638M	NM_006071.1	NP_006062.1	WXS	Illumina GAIIx	Phase_I	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4912	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1638					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.4913C>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.361256	0.41801	0.0	1.16E-4	ENSG00000130943	ENST00000253255	T	0.37235	1.21	4.97	0.34	0.15985	.	0.800145	0.11021	N	0.608395	T	0.20292	0.0488	L	0.40543	1.245	0.09310	N	1	P	0.49635	0.926	B	0.28139	0.086	T	0.11348	-1.0591	10	0.52906	T	0.07	-1.1528	7.3881	0.26895	0.1457:0.2575:0.5968:0.0	.	1638	Q9NTG1	PKDRE_HUMAN	M	1638	ENSP00000253255:T1638M	ENSP00000253255:T1638M	T	-	2	0	PKDREJ	45032971	0.022000	0.18835	0.000000	0.03702	0.464000	0.32679	2.017000	0.40981	-0.019000	0.14055	0.305000	0.20034	ACG		0.393	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		9	37	0	0	0	1	0	9	37					A	46654307	G	A	46654307	3	1	38	1	0	0	0	0	1	0	0	0	11979	1145	40	1	1852	1	PKDREJ	22	46654307	Missense_Mutation	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08		46654307	4650259	55	3791										
HUWE1	10075	broad.mit.edu	37	chrX	53674334	53674334	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	tatggaactgtacagatgccGggaaaagctgtactcaatga	11	7	1	2			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chrX:53674334G>C	ENST00000342160.3	-	5	785	c.328C>G	c.(328-330)Cgg>Ggg	p.R110G	HUWE1_ENST00000218328.8_Missense_Mutation_p.R110G|HUWE1_ENST00000262854.6_Missense_Mutation_p.R110G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	110					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						TACAGATGCCGGGAAAAGCTG	0.438																																						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.(328-330)Cgg>Ggg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							96	75	82					X																	53674334		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:53674334G>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.328C>G	X.37:g.53674334G>C	ENSP00000340648:p.Arg110Gly		Somatic				HUWE1_ENST00000262854.6_Missense_Mutation_p.R110G|HUWE1_ENST00000218328.8_Missense_Mutation_p.R110G	p.R110G			WXS	Illumina GAIIx	Phase_I	Q7Z6Z7	HUWE1_HUMAN			5	785	-			110					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.328C>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238257	0.79800	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528	T;T;T	0.65732	-0.12;-0.12;-0.17	5.6	5.6	0.85130	Armadillo-like helical (1);E3 ubiquitin ligase, domain of unknown function DUF908 (1);	0.000000	0.64402	D	0.000001	T	0.80844	0.4701	M	0.79693	2.465	0.53688	D	0.999971	D	0.89917	1.0	D	0.91635	0.999	D	0.83528	0.0089	10	0.87932	D	0	.	17.3006	0.87182	0.0:0.0:1.0:0.0	.	110	Q7Z6Z7	HUWE1_HUMAN	G	110	ENSP00000340648:R110G;ENSP00000262854:R110G;ENSP00000218328:R110G	ENSP00000218328:R110G	R	-	1	2	HUWE1	53691059	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.374000	0.59543	2.353000	0.79882	0.600000	0.82982	CGG		0.438	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		25	26	0	0	0	1	0	25	26					C	53674334	G	C	53674334	3	2	38	1	0	0	0	0	1	0	0	0	7470	1115	39	5	13112	5	HUWE1	23	53674334	Missense_Mutation	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08		53674334	101596226	56	3792										
ALAS2	212	broad.mit.edu	37	chrX	55042071	55042071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	atcacgctccccaatcccagCgccccgggacccatacagtc	7	20	1	0			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chrX:55042071C>T	ENST00000330807.5	-	8	1245	c.1108G>A	c.(1108-1110)Gct>Act	p.A370T	ALAS2_ENST00000335854.4_Missense_Mutation_p.A333T|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.A357T	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	370					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)	CCAATCCCAGCGCCCCGGGAC	0.527																																						ENST00000330807.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(1108-1110)Gct>Act		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						89	76	81					X																	55042071		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:55042071C>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.1108G>A	X.37:g.55042071C>T	ENSP00000332369:p.Ala370Thr		Somatic				ALAS2_ENST00000335854.4_Missense_Mutation_p.A333T|ALAS2_ENST00000396198.3_Missense_Mutation_p.A357T|ALAS2_ENST00000498636.1_5'UTR	p.A370T	NM_000032.4	NP_000023.2	WXS	Illumina GAIIx	Phase_I	P22557	HEM0_HUMAN			8	1245	-			370					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.1108G>A	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012126	0.93346	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.92446	-3.04;-3.04;-3.04	5.75	5.75	0.90469	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97077	0.9045	M	0.93016	3.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.992;0.995	D	0.97796	1.0241	10	0.87932	D	0	-11.6258	17.8507	0.88746	0.0:1.0:0.0:0.0	.	333;357;370	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	T	370;357;333	ENSP00000332369:A370T;ENSP00000379501:A357T;ENSP00000337131:A333T	ENSP00000332369:A370T	A	-	1	0	ALAS2	55058796	1.000000	0.71417	0.993000	0.49108	0.825000	0.46686	7.818000	0.86416	2.576000	0.86940	0.594000	0.82650	GCT		0.527	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		27	53	0	0	0	1	0	27	53					T	55042071	C	T	55042071	3	4	38	1	0	0	0	0	1	0	0	0	485	768	27	1	671	1	ALAS2	23	55042071	Missense_Mutation	SNP	C	TCGA-N9-A4Q8-01A-31D-A28R-08	1367737	55042071	100228489	57	3793										
GPRASP2	114928	broad.mit.edu	37	chrX	101972267	101972267	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0862068965517241	5	1	1.12707722385142	2.9948051948052	0.582323232323232	1	1	0	agttagctaagcaactacaaGcccaaatagacaaccaaaat	5	10	0	1			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chrX:101972267G>T	ENST00000535209.1	+	4	3301	c.2470G>T	c.(2470-2472)Gcc>Tcc	p.A824S	GPRASP2_ENST00000543253.1_Missense_Mutation_p.A824S|GPRASP2_ENST00000332262.5_Missense_Mutation_p.A824S			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	824						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						GCAACTACAAGCCCAAATAGA	0.403																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(2470-2472)Gcc>Tcc		G protein-coupled receptor associated sorting protein 2							93	98	96					X																	101972267		2201	4287	6488	SO:0001583	missense	114928							g.chrX:101972267G>T	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.2470G>T	X.37:g.101972267G>T	ENSP00000437394:p.Ala824Ser		Somatic				GPRASP2_ENST00000535209.1_Missense_Mutation_p.A824S|GPRASP2_ENST00000332262.5_Missense_Mutation_p.A824S	p.A824S	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1	WXS	Illumina GAIIx	Phase_I					5	3389	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.2470G>T	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.160089	0.01686	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.29917	1.55;1.55;1.55	4.04	-3.32	0.04973	Armadillo-type fold (1);	1.597100	0.03893	N	0.279045	T	0.19565	0.0470	N	0.12182	0.205	0.09310	N	1	B	0.14012	0.009	B	0.19391	0.025	T	0.31861	-0.9928	10	0.42905	T	0.14	1.4477	11.1102	0.48228	0.7885:0.0:0.2115:0.0	.	824	Q96D09	GASP2_HUMAN	S	824	ENSP00000437872:A824S;ENSP00000437394:A824S;ENSP00000339057:A824S	ENSP00000339057:A824S	A	+	1	0	GPRASP2	101858923	0.965000	0.33210	0.018000	0.16275	0.979000	0.70002	0.020000	0.13466	-1.034000	0.03295	0.513000	0.50165	GCC		0.403	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		4	73	1	0	1.024e-07	1	1.09137e-07	4	73					T	101972267	G	T	101972267	3	4	38	1	0	0	0	0	1	0	0	0	6732	971	34	5	2472	5	GPRASP2	23	101972267	Missense_Mutation	SNP	G	TCGA-N9-A4Q8-01A-31D-A28R-08	46930196	101972267	53298293	58	3794										
THAP3	90326	broad.mit.edu	37	chr1	6692465	6692465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	tcccaggtcctccctgaggcGggggccggagaggacagtcc	16	14	0	2	rs146637042	byFrequency	TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:6692465G>A	ENST00000054650.4	+	5	506	c.348G>A	c.(346-348)gcG>gcA	p.A116A	THAP3_ENST00000307896.6_Silent_p.A115A|THAP3_ENST00000377627.3_Silent_p.A123A|DNAJC11_ENST00000465508.1_5'Flank	NM_001195753.1	NP_001182682.1	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	116							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TCCCTGAGGCGGGGGCCGGAG	0.597																																						ENST00000377627.3																			0				breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4						c.(367-369)gcG>gcA		THAP domain containing, apoptosis associated protein 3		G	,,	0,4406		0,0,2203	45	44	44		345,348,369	-4.9	0	1	dbSNP_134	44	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	THAP3	NM_001195752.1,NM_001195753.1,NM_138350.3	,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,	115/239,116/240,123/176	6692465	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	90326						DNA binding|metal ion binding	g.chr1:6692465G>A	BC022081	CCDS86.1, CCDS55572.1, CCDS55573.1	1p36.1	2013-01-25			ENSG00000041988	ENSG00000041988		"THAP (C2CH-type zinc finger) domain containing"	20855	protein-coding gene	gene with protein product		612532				12575992	Standard	NM_138350		Approved		uc001aod.3	Q8WTV1	OTTHUMG00000001440	ENST00000054650.4:c.348G>A	1.37:g.6692465G>A			Somatic				THAP3_ENST00000307896.6_Silent_p.A115A|THAP3_ENST00000054650.4_Silent_p.A116A	p.A123A	NM_138350.3	NP_612359.2	WXS	Illumina GAIIx	Phase_I	Q8WTV1	THAP3_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	4	396	+	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)	116					Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3	Silent	SNP	ENST00000054650.4	37	c.369G>A	CCDS55572.1																																																																																				0.597	THAP3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004203.1	NM_138350		5	65	0	0	0	1	0	5	65					A	6692465	G	A	6692465	2	1	39	1	0	0	0	0	0	0	0	1	15860	1103	39	1		1	THAP3	1	6692465	Silent	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08		6692465	242558156	1	3795										
MYCL1	4610	broad.mit.edu	37	chr1	40366682	40366684	+	In_Frame_Del	DEL	GGC	GGC	-													0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	ccagcggacagggggcggcgGgcgccgggttgccggcttcg							TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:40366682_40366684delGGC	ENST00000372816.2	-	1	870_872	c.423_425delGCC	c.(421-426)gcgccc>gcc	p.P142del	MYCL_ENST00000429311.1_In_Frame_Del_p.P142del|RP1-118J21.5_ENST00000418255.1_RNA|MYCL_ENST00000397332.2_In_Frame_Del_p.P172del|MYCL_ENST00000372815.1_In_Frame_Del_p.P172del			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	142						nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGGGGCGGCGGGCGCCGGGTTGC	0.749																																						ENST00000397332.2																			0											c.(511-516)gcc>gc		v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog																																				SO:0001651	inframe_deletion	4610							g.chr1:40366682_40366684delGGC		CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"Basic helix-loop-helix proteins"	7555	protein-coding gene	gene with protein product	"l-myc protein", "myc-related gene from lung cancer", "oncogene lmyc"	164850	"v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.423_425delGCC	1.37:g.40366682_40366684delGGC	ENSP00000361903:p.Pro142del		Somatic				MYCL_ENST00000429311.1_In_Frame_Del_p.AP141del|MYCL_ENST00000372815.1_In_Frame_Del_p.AP171del|MYCL_ENST00000372816.2_In_Frame_Del_p.AP141del	p.AP171del	NM_001033081.2|NM_001033082.2	NP_001028253.1|NP_001028254.2	WXS	Illumina GAIIx	Phase_I					2	637_639	-								A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	In_Frame_Del	DEL	ENST00000372816.2	37	c.513_515delGCC	CCDS30682.1																																																																																				0.749	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277004.1	NM_001033082		2	4						2	4	---	---	---	---	-	40366684	GGC	-	40366682	7	5	39	1	0	1	0	1	0	0	0	0	10029	1232	43	0	802	0	MYCL1	1	40366682	In_Frame_Del	DEL	GGC	TCGA-NA-A4QV-01A-11D-A28R-08	33674217	40366682	208883939	2	3796										
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76877743	76877743	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	atagtgtcaaactcaggtcaGatggttggccagaaggtggg	15	6	3	2			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:76877743G>C	ENST00000328299.3	+	3	412	c.264G>C	c.(262-264)caG>caC	p.Q88H	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	88					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACTCAGGTCAGATGGTTGGCC	0.443																																						ENST00000328299.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(262-264)caG>caC		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3							113	100	105					1																	76877743		2203	4300	6503	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76877743G>C		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.264G>C	1.37:g.76877743G>C	ENSP00000329214:p.Gln88His		Somatic				ST6GALNAC3_ENST00000464140.1_3'UTR	p.Q88H	NM_152996.2	NP_694541.2	WXS	Illumina GAIIx	Phase_I	Q8NDV1	SIA7C_HUMAN			3	412	+			88					Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.264G>C	CCDS672.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389105	0.42410	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	T	0.29917	1.55	6.17	3.27	0.37495	.	0.052300	0.85682	D	0.000000	T	0.23171	0.0560	L	0.33792	1.035	0.58432	D	0.999997	D;P;D	0.89917	1.0;0.526;0.999	D;P;D	0.97110	1.0;0.557;0.997	T	0.03534	-1.1027	10	0.10902	T	0.67	-21.1283	10.6499	0.45642	0.2068:0.0:0.7932:0.0	.	23;88;88	B4DM98;Q8NDV1;Q8NDV1-2	.;SIA7C_HUMAN;.	H	88;88;87;22	ENSP00000329214:Q88H	ENSP00000329214:Q88H	Q	+	3	2	ST6GALNAC3	76650331	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.875000	0.48491	0.912000	0.36772	0.655000	0.94253	CAG		0.443	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		31	30	0	0	0	1	0	31	30					C	76877743	G	C	76877743	3	2	39	1	0	0	0	0	1	0	0	0	15240	933	33	2	274	2	ST6GALNAC3	1	76877743	Missense_Mutation	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08	36511061	76877743	172372878	3	3797										
LCE2C	353140	broad.mit.edu	37	chr1	152648727	152648727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	cctgagccaccacaggccccGtctcttccaccggcgccggc	10	21	1	1	rs199701090		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:152648727G>A	ENST00000368783.1	+	2	291	c.236G>A	c.(235-237)cGt>cAt	p.R79H	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	79	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGGCCCCGTCTCTTCCAC	0.682													G|||	1	0.000199681	0	0	5008	,	,		13590	0		0.001	False		,,,				2504	0					ENST00000368783.1																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13						c.(235-237)cGt>cAt		late cornified envelope 2C							41	51	47					1																	152648727		2202	4299	6501	SO:0001583	missense	353140				keratinization			g.chr1:152648727G>A		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"Late cornified envelopes"	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.236G>A	1.37:g.152648727G>A	ENSP00000357772:p.Arg79His		Somatic				LCE2B_ENST00000417924.2_Intron	p.R79H	NM_178429.2	NP_848516.1	WXS	Illumina GAIIx	Phase_I	Q5TA81	LCE2C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	291	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		79			Cys-rich.			Missense_Mutation	SNP	ENST00000368783.1	37	c.236G>A	CCDS1019.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	3.245	-0.154537	0.06544	.	.	ENSG00000187180	ENST00000368783	T	0.04406	3.63	2.59	-5.18	0.02840	.	.	.	.	.	T	0.00552	0.0018	N	0.03999	-0.3	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43245	-0.9403	9	0.28530	T	0.3	.	8.4118	0.32648	0.253:0.0:0.6327:0.1142	.	79	Q5TA81	LCE2C_HUMAN	H	79	ENSP00000357772:R79H	ENSP00000357772:R79H	R	+	2	0	LCE2C	150915351	0.000000	0.05858	0.000000	0.03702	0.369000	0.29798	-3.155000	0.00580	-3.219000	0.00212	-2.792000	0.00115	CGT		0.682	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429		127	132	0	0	0	1	0	127	132					A	152648727	G	A	152648727	3	1	39	1	0	0	0	0	1	0	0	0	8676	1145	40	1	238	1	LCE2C	1	152648727	Missense_Mutation	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08	75770984	152648727	96601894	4	3798										
CFH	3075	broad.mit.edu	37	chr1	196714954	196714954	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	tgatgttttttagattctacAggaaaatgtgggccccctcc	9	9	1	2	rs1137971	byFrequency	TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:196714954A>G	ENST00000367429.4	+	21	3558	c.3318A>G	c.(3316-3318)acA>acG	p.T1106T		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1106					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						TAGATTCTACAGGAAAATGTG	0.393													A|||	3	0.000599042	0	0	5008	,	,		17687	0.001		0	False		,,,				2504	0.002					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.(3316-3318)acA>acG		complement factor H							161	153	156					1																	196714954		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196714954A>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.3318A>G	1.37:g.196714954A>G			Somatic					p.T1106T	NM_000186.3	NP_000177.2	WXS	Illumina GAIIx	Phase_I	P08603	CFAH_HUMAN			21	3558	+			1106					A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	c.3318A>G	CCDS1385.1																																																																																				0.393	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		5	158	0	0	0	1	0	5	158					G	196714954	A	G	196714954	2	3	39	1	0	0	0	0	0	0	0	1	3285	175	7	4		4	CFH	1	196714954	Silent	SNP	A	TCGA-NA-A4QV-01A-11D-A28R-08	44066227	196714954	52535667	5	3799										
NRXN1	9378	broad.mit.edu	37	chr2	50723042	50723042	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	tctgacttaacatgcacttaCtcttgaggtctaagttcctg	7	10	3	2			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr2:50723042C>A	ENST00000406316.2	-	15	4547		c.e15+1		NRXN1_ENST00000401669.2_Splice_Site|NRXN1_ENST00000406859.3_Splice_Site|NRXN1_ENST00000405472.3_Splice_Site|NRXN1_ENST00000402717.3_Splice_Site|NRXN1_ENST00000331040.5_Splice_Site|NRXN1_ENST00000404971.1_Splice_Site|NRXN1_ENST00000401710.1_Splice_Site	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CATGCACTTACTCTTGAGGTC	0.473																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.e16+1		neurexin 1							193	188	190					2																	50723042		2100	4215	6315	SO:0001630	splice_region_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.chr2:50723042C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3070+1G>T	2.37:g.50723042C>A			Somatic				NRXN1_ENST00000406316.2_Splice_Site|NRXN1_ENST00000406859.3_Splice_Site|NRXN1_ENST00000331040.5_Splice_Site|NRXN1_ENST00000402717.3_Splice_Site|NRXN1_ENST00000401710.1_Splice_Site|NRXN1_ENST00000405472.3_Splice_Site|NRXN1_ENST00000401669.2_Splice_Site		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)		16	4530	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)						A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Splice_Site	SNP	ENST00000406316.2	37		CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134030	0.56828	.	.	ENSG00000179915	ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1982	0.98246	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRXN1	50576546	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	7.773000	0.85462	2.848000	0.98002	0.655000	0.94253	.		0.473	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		Intron	18	7	1	0	2.35188e-11	1	2.52739e-11	18	7					A	50723042	C	A	50723042	5	1	39	1	0	0	0	0	0	0	1	0	10674	579	20	5	1751	5	NRXN1	2	50723042	Splice_Site	SNP	C	TCGA-NA-A4QV-01A-11D-A28R-08		50723042	192476331	6	3800										
DPP10	57628	broad.mit.edu	37	chr2	116593798	116593798	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	aagctttttaaatgtggatcCgtggttgcacctatcacaga	9	8	1	1	rs369883174		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr2:116593798C>T	ENST00000410059.1	+	22	2496	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	DPP10_ENST00000409163.1_Silent_p.S622S|DPP10_ENST00000393147.2_Silent_p.S676S|DPP10_ENST00000310323.8_Silent_p.S665S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	672						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						AATGTGGATCCGTGGTTGCAC	0.328																																						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.(2014-2016)tcC>tcT		dipeptidyl-peptidase 10 (non-functional)		C	,,,,	1,4405	2.1+/-5.4	0,1,2202	83	81	82		1995,2028,1866,2004,2016	-8.3	1	2		82	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DPP10	NM_001004360.3,NM_001178034.1,NM_001178036.1,NM_001178037.1,NM_020868.3	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	665/790,676/801,622/747,668/793,672/797	116593798	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116593798C>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.2016C>T	2.37:g.116593798C>T			Somatic				DPP10_ENST00000393147.2_Silent_p.S676S|DPP10_ENST00000409163.1_Silent_p.S622S|DPP10_ENST00000310323.8_Silent_p.S665S	p.S672S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	WXS	Illumina GAIIx	Phase_I	Q8N608	DPP10_HUMAN			22	2496	+			672					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.2016C>T	CCDS46400.1																																																																																				0.328	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		8	20	0	0	0	1	0	8	20					T	116593798	C	T	116593798	2	4	39	1	0	0	0	0	0	0	0	1	4729	639	23	1		1	DPP10	2	116593798	Silent	SNP	C	TCGA-NA-A4QV-01A-11D-A28R-08	65870756	116593798	126605575	7	3801										
POTEF	728378	broad.mit.edu	37	chr2	130833004	130833004	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	attcctttttttcacactttCaatatcctccaaatatttct	0	11	3	0			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr2:130833004C>T	ENST00000409914.2	-	17	2440	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000357462.5_Missense_Mutation_p.E681K|POTEF_ENST00000360967.5_3'UTR	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	681					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						TTCACACTTTCAATATCCTCC	0.398																																						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.(2041-2043)Gaa>Aaa		POTE ankyrin domain family, member F							36	37	36					2																	130833004		2115	4251	6366	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130833004C>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2041G>A	2.37:g.130833004C>T	ENSP00000386786:p.Glu681Lys		Somatic				POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000409914.2_Missense_Mutation_p.E681K|POTEF_ENST00000360967.5_3'UTR	p.E681K			WXS	Illumina GAIIx	Phase_I	A5A3E0	POTEF_HUMAN			15	2134	-			681					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.2041G>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	10.30	1.313083	0.23908	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	T;T	0.13901	2.55;2.55	0.993	0.993	0.19825	.	.	.	.	.	T	0.07503	0.0189	L	0.33245	0.995	0.09310	N	0.999995	B	0.32409	0.37	B	0.17098	0.017	T	0.32955	-0.9887	9	0.22706	T	0.39	.	5.373	0.16150	0.0:1.0:0.0:0.0	.	681	A5A3E0	POTEF_HUMAN	K	681	ENSP00000350052:E681K;ENSP00000386786:E681K	ENSP00000350052:E681K	E	-	1	0	POTEF	130549474	0.037000	0.19845	0.027000	0.17364	0.026000	0.11368	1.029000	0.30140	0.847000	0.35167	0.184000	0.17185	GAA		0.398	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		35	37	0	0	0	1	0	35	37					T	130833004	C	T	130833004	3	4	39	1	0	0	0	0	1	0	0	0	12274	835	29	3	1190	3	POTEF	2	130833004	Missense_Mutation	SNP	C	TCGA-NA-A4QV-01A-11D-A28R-08	14239206	130833004	112366369	8	3802										
RASGRF2	5924	broad.mit.edu	37	chr5	80476008	80476008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	cctaaggctttaacaacaccGagagaacatgtgataaagag	9	8	0	3			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr5:80476008G>A	ENST00000265080.4	+	18	2768	c.2701G>A	c.(2701-2703)Gag>Aag	p.E901K		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	901					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)		TAACAACACCGAGAGAACATG	0.443																																						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.(2701-2703)Gag>Aag		Ras protein-specific guanine nucleotide-releasing factor 2							180	174	176					5																	80476008		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.chr5:80476008G>A	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.2701G>A	5.37:g.80476008G>A	ENSP00000265080:p.Glu901Lys		Somatic					p.E901K	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)	18	2768	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	901					B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.2701G>A	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203040	0.58234	.	.	ENSG00000113319	ENST00000265080	T	0.31769	1.48	5.72	5.72	0.89469	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.058300	0.64402	D	0.000003	T	0.33177	0.0854	M	0.67953	2.075	0.58432	D	0.999999	D	0.55385	0.971	B	0.39299	0.296	T	0.16041	-1.0416	10	0.21014	T	0.42	.	18.6503	0.91428	0.0:0.0:1.0:0.0	.	901	O14827	RGRF2_HUMAN	K	901	ENSP00000265080:E901K	ENSP00000265080:E901K	E	+	1	0	RASGRF2	80511764	1.000000	0.71417	0.951000	0.38953	0.134000	0.20937	9.011000	0.93618	2.704000	0.92352	0.563000	0.77884	GAG		0.443	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		22	107	0	0	0	1	0	22	107					A	80476008	G	A	80476008	3	1	39	1	0	0	0	0	1	0	0	0	13088	1059	37	1	2771	1	RASGRF2	5	80476008	Missense_Mutation	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08		80476008	100439252	9	3803										
DNAH8	1769	broad.mit.edu	37	chr6	38851677	38851677	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	aattgaaagctacgtggataAgcgaattggaagcacatatg	11	5	0	1			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr6:38851677A>C	ENST00000359357.3	+	54	7765	c.7511A>C	c.(7510-7512)aAg>aCg	p.K2504T	DNAH8_ENST00000449981.2_Missense_Mutation_p.K2721T|DNAH8_ENST00000441566.1_Missense_Mutation_p.K2468T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	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(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						TACGTGGATAAGCGAATTGGA	0.363																																						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.(7510-7512)aAg>aCg		dynein, axonemal, heavy chain 8							109	111	110					6																	38851677		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38851677A>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.7511A>C	6.37:g.38851677A>C	ENSP00000352312:p.Lys2504Thr		Somatic				DNAH8_ENST00000441566.1_Missense_Mutation_p.K2468T|DNAH8_ENST00000449981.2_Missense_Mutation_p.K2721T	p.K2504T			WXS	Illumina GAIIx	Phase_I					54	7765	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.7511A>C		.	.	.	.	.	.	.	.	.	.	A	25.1	4.601660	0.87055	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.16743	2.32;2.32;2.32	4.86	4.86	0.63082	ATPase, AAA+ type, core (1);	0.051217	0.85682	D	0.000000	T	0.51415	0.1673	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72007	-0.4420	10	0.87932	D	0	.	14.7365	0.69419	1.0:0.0:0.0:0.0	.	2504	Q96JB1	DYH8_HUMAN	T	2709;2709;2504;2468	ENSP00000333363:K2709T;ENSP00000352312:K2504T;ENSP00000402294:K2468T	ENSP00000333363:K2709T	K	+	2	0	DNAH8	38959655	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.277000	0.95755	1.942000	0.56320	0.454000	0.30748	AAG		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		27	101	0	0	0	1	0	27	101					C	38851677	A	C	38851677	3	2	39	1	0	0	0	0	1	0	0	0	4609	72	3	4	7717	4	DNAH8	6	38851677	Missense_Mutation	SNP	A	TCGA-NA-A4QV-01A-11D-A28R-08		38851677	132263390	10	3804										
COL9A1	1297	broad.mit.edu	37	chr6	70964902	70964902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	gaattcctctagcaccttcaGccccctgcagggaggaagag	11	13	2	1			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr6:70964902G>T	ENST00000357250.6	-	23	1720	c.1562C>A	c.(1561-1563)gCt>gAt	p.A521D	COL9A1_ENST00000370499.4_Missense_Mutation_p.A278D|COL9A1_ENST00000320755.7_Missense_Mutation_p.A278D|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	521	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						AGCACCTTCAGCCCCCTGCAG	0.448																																						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.(1561-1563)gCt>gAt		collagen, type IX, alpha 1							141	143	142					6																	70964902		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70964902G>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.1562C>A	6.37:g.70964902G>T	ENSP00000349790:p.Ala521Asp		Somatic				COL9A1_ENST00000370499.4_Missense_Mutation_p.A278D|COL9A1_ENST00000320755.7_Missense_Mutation_p.A278D|COL9A1_ENST00000489611.1_5'UTR	p.A521D	NM_001851.4	NP_001842.3	WXS	Illumina GAIIx	Phase_I	P20849	CO9A1_HUMAN			23	1720	-			521			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.1562C>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	g	7.631	0.678807	0.14841	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.93488	-3.23;-3.23;-3.23	5.73	-1.52	0.08637	.	1.345120	0.04379	N	0.360553	T	0.74053	0.3666	N	0.12887	0.27	0.09310	N	1	B;B;B	0.26195	0.097;0.007;0.144	B;B;B	0.37451	0.079;0.01;0.25	T	0.72057	-0.4405	10	0.09338	T	0.73	.	6.4051	0.21660	0.4104:0.1176:0.472:0.0	.	521;278;94	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	D	521;278;278	ENSP00000349790:A521D;ENSP00000315252:A278D;ENSP00000359530:A278D	ENSP00000315252:A278D	A	-	2	0	COL9A1	71021623	0.209000	0.23505	0.001000	0.08648	0.011000	0.07611	0.492000	0.22435	-0.128000	0.11641	-0.726000	0.03593	GCT		0.448	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			7	128	1	0	0.00198382	1	0.00198382	7	128					T	70964902	G	T	70964902	3	4	39	1	0	0	0	0	1	0	0	0	3709	971	34	5	1267	5	COL9A1	6	70964902	Missense_Mutation	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08	32113225	70964902	100150165	11	3805										
HSPB1	3315	broad.mit.edu	37	chr7	75933345	75933345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	ccaagtttcctcctccctgtCccctgagggcacactgaccg	8	18	0	2			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr7:75933345C>T	ENST00000248553.6	+	3	642	c.473C>T	c.(472-474)tCc>tTc	p.S158F	HSPB1_ENST00000429938.1_5'UTR	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN	heat shock 27kDa protein 1	158	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						TCCTCCCTGTCCCCTGAGGGC	0.637																																						ENST00000248553.6																			0				large_intestine(1)|lung(3)	4						c.(472-474)tCc>tTc		heat shock 27kDa protein 1							31	27	28					7																	75933345		2203	4300	6503	SO:0001583	missense	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.chr7:75933345C>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.473C>T	7.37:g.75933345C>T	ENSP00000248553:p.Ser158Phe		Somatic				HSPB1_ENST00000429938.1_5'UTR	p.S158F	NM_001540.3	NP_001531.1	WXS	Illumina GAIIx	Phase_I	P04792	HSPB1_HUMAN			3	642	+			158			Interaction with TGFB1I1 (By similarity).		B2R4N8|Q6FI47|Q96C20|Q96EI7|Q9UC31|Q9UC34|Q9UC35|Q9UC36	Missense_Mutation	SNP	ENST00000248553.6	37	c.473C>T	CCDS5583.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977635	0.92982	.	.	ENSG00000106211	ENST00000248553;ENST00000432276	D	0.91894	-2.93	4.65	4.65	0.58169	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	D	0.97576	0.9206	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99063	1.0831	10	0.87932	D	0	-40.5723	16.6936	0.85328	0.0:1.0:0.0:0.0	.	158	P04792	HSPB1_HUMAN	F	158;123	ENSP00000248553:S158F	ENSP00000248553:S158F	S	+	2	0	HSPB1	75771281	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	6.987000	0.76206	2.420000	0.82092	0.555000	0.69702	TCC		0.637	HSPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252958.1			14	43	0	0	0	1	0	14	43					T	75933345	C	T	75933345	3	4	39	1	0	0	0	0	1	0	0	0	7427	855	30	3	483	3	HSPB1	7	75933345	Missense_Mutation	SNP	C	TCGA-NA-A4QV-01A-11D-A28R-08		75933345	83205318	12	3806										
ARFGEF1	10565	broad.mit.edu	37	chr8	68204156	68204156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	tatcagatccattttcaggcTctgtgtcatcctgaagactt	7	10	4	3			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr8:68204156T>C	ENST00000262215.3	-	6	1231	c.842A>G	c.(841-843)gAg>gGg	p.E281G		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	281					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)			ATTTTCAGGCTCTGTGTCATC	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.(841-843)gAg>gGg		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							173	161	165					8																	68204156		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68204156T>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.842A>G	8.37:g.68204156T>C	ENSP00000262215:p.Glu281Gly		Somatic					p.E281G	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	1231	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	281					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.842A>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834390	0.50951	.	.	ENSG00000066777	ENST00000262215	T	0.22336	1.96	5.22	5.22	0.72569	Armadillo-type fold (1);	0.250737	0.39146	N	0.001445	T	0.21881	0.0527	L	0.50333	1.59	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.02491	-1.1151	10	0.30078	T	0.28	.	15.1269	0.72489	0.0:0.0:0.0:1.0	.	281	Q9Y6D6	BIG1_HUMAN	G	281	ENSP00000262215:E281G	ENSP00000262215:E281G	E	-	2	0	ARFGEF1	68366710	1.000000	0.71417	0.986000	0.45419	0.900000	0.52787	7.203000	0.77864	1.972000	0.57404	0.377000	0.23210	GAG		0.423	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		43	53	0	0	0	1	0	43	53					C	68204156	T	C	68204156	3	2	39	1	0	0	0	0	1	0	0	0	852	1551	54	4	4843	4	ARFGEF1	8	68204156	Missense_Mutation	SNP	T	TCGA-NA-A4QV-01A-11D-A28R-08		68204156	78159866	13	3807										
RHOBTB1	9886	broad.mit.edu	37	chr10	62648275	62648275	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	aaatggggttgacttgcattTccctgtgcatgccaatgaac	10	9	0	2			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:62648275T>G	ENST00000337910.5	-	6	1488	c.1151A>C	c.(1150-1152)gAa>gCa	p.E384A	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E384A	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	384	BTB 1. {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)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GACTTGCATTTCCCTGTGCAT	0.572																																						ENST00000337910.5																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1150-1152)gAa>gCa		Rho-related BTB domain containing 1							83	87	86					10																	62648275		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648275T>G	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"BTB/POZ domain containing"	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1151A>C	10.37:g.62648275T>G	ENSP00000338671:p.Glu384Ala		Somatic				RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E384A	p.E384A	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	WXS	Illumina GAIIx	Phase_I	O94844	RHBT1_HUMAN			6	1488	-	Prostate(12;0.0112)		384			BTB 1.			Missense_Mutation	SNP	ENST00000337910.5	37	c.1151A>C	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981900	0.74474	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.17054	2.3;2.3	5.95	5.95	0.96441	BTB/POZ-like (2);BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	M	0.62016	1.91	0.80722	D	1	D	0.61697	0.99	D	0.63957	0.92	T	0.02751	-1.1115	10	0.28530	T	0.3	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	384	O94844	RHBT1_HUMAN	A	384	ENSP00000350595:E384A;ENSP00000338671:E384A	ENSP00000338671:E384A	E	-	2	0	RHOBTB1	62318281	1.000000	0.71417	0.920000	0.36463	0.970000	0.65996	7.527000	0.81931	2.279000	0.76181	0.533000	0.62120	GAA		0.572	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			42	1867	0	0	0	1	0	42	1867					G	62648275	T	G	62648275	3	3	39	1	0	0	0	0	1	0	0	0	13348	1783	62	4	963	4	RHOBTB1	10	62648275	Missense_Mutation	SNP	T	TCGA-NA-A4QV-01A-11D-A28R-08		62648275	72886472	14	3808										
TMEM26	219623	broad.mit.edu	37	chr10	63188798	63188798	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	gagtgatcccgcctccaatgGgtagaagccatcttccaatt	9	12	1	2			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:63188798G>T	ENST00000399298.3	-	4	859	c.491C>A	c.(490-492)cCc>cAc	p.P164H	TMEM26_ENST00000399293.1_Missense_Mutation_p.P164H	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	164						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCCTCCAATGGGTAGAAGCCA	0.423																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(490-492)cCc>cAc		transmembrane protein 26							108	107	108					10																	63188798		1892	4117	6009	SO:0001583	missense	219623					integral to membrane		g.chr10:63188798G>T	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.491C>A	10.37:g.63188798G>T	ENSP00000382237:p.Pro164His		Somatic				TMEM26_ENST00000399293.1_Missense_Mutation_p.P164H	p.P164H	NM_178505.6	NP_848600.2	WXS	Illumina GAIIx	Phase_I	Q6ZUK4	TMM26_HUMAN			4	859	-	Prostate(12;0.0112)		164					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.491C>A	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567898	0.86439	.	.	ENSG00000196932	ENST00000399298;ENST00000277749;ENST00000399293	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.84547	0.5496	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86637	0.1889	9	0.87932	D	0	-23.4154	19.3644	0.94456	0.0:0.0:1.0:0.0	.	164	Q6ZUK4	TMM26_HUMAN	H	164;74;164	.	ENSP00000277749:P74H	P	-	2	0	TMEM26	62858804	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	9.405000	0.97313	2.596000	0.87737	0.591000	0.81541	CCC		0.423	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		25	831	1	0	1.1804e-14	1	1.28771e-14	25	831					T	63188798	G	T	63188798	3	4	39	1	0	0	0	0	1	0	0	0	16166	1232	43	5	627	5	TMEM26	10	63188798	Missense_Mutation	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08	540523	63188798	72345949	15	3809										
ZMIZ1	57178	broad.mit.edu	37	chr10	81067245	81067245	+	Frame_Shift_Del	DEL	C	C	-													0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	tgaatgacttcatgcacgggCccccccagctctcccacccc							TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:81067245delC	ENST00000334512.5	+	23	3324	c.2752delC	c.(2752-2754)cccfs	p.P919fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.P72fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	919	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)			CATGCACGGGCCCCCCCAGCT	0.597																																						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.(2752-2754)ccfs		zinc finger, MIZ-type containing 1							58	59	59					10																	81067245		2203	4300	6503	SO:0001589	frameshift_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81067245delC	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.2752delC	10.37:g.81067245delC	ENSP00000334474:p.Pro919fs		Somatic				ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.P72fs	p.P919fs	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)		23	3324	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		919			Pro-rich.		Q5JSH9|Q7Z7E6	Frame_Shift_Del	DEL	ENST00000334512.5	37	c.2752delC	CCDS7357.1																																																																																				0.597	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		7	571						7	571	---	---	---	---	-	81067245	C	-	81067245	7	5	39	1	0	1	0	1	0	0	0	0	17711	739	26	0	2826	0	ZMIZ1	10	81067245	Frame_Shift_Del	DEL	C	TCGA-NA-A4QV-01A-11D-A28R-08	17878447	81067245	54467502	16	3810										
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-													0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	tccattacatcacagtggggCtcctcctcctcctccttccc					rs201441910		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	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)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						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.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	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.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del		Somatic				ZMIZ1_ENST00000446377.2_Intron	p.AP981del	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	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		15	1209						15	1209	---	---	---	---	-	81070789	CTC	-	81070787	7	5	39	1	0	1	0	1	0	0	0	0	17711	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-NA-A4QV-01A-11D-A28R-08	3542	81070787	54463960	17	3811										
PGAM1	5223	broad.mit.edu	37	chr10	99190370	99190370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	ctatgatgtcccaccacctcCgatggagcccgaccatcctt	7	17	0	1			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:99190370C>T	ENST00000334828.5	+	2	522	c.374C>T	c.(373-375)cCg>cTg	p.P125L	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	125	Pro-rich.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|regulation of glycolytic process (GO:0006110)|regulation of pentose-phosphate shunt (GO:0043456)|respiratory burst (GO:0045730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)|protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		CCACCACCTCCGATGGAGCCC	0.527																																						ENST00000334828.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						c.(373-375)cCg>cTg		phosphoglycerate mutase 1 (brain)							43	44	44					10																	99190370		2201	4295	6496	SO:0001583	missense	5223				gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding	g.chr10:99190370C>T	BC010038	CCDS7458.1	10q25.3	2012-10-02			ENSG00000171314	ENSG00000171314	5.4.2.1		8888	protein-coding gene	gene with protein product	"Phosphoglycerate mutase A, nonmuscle form"	172250		PGAMA		2846553	Standard	NM_002629		Approved	PGAM-B	uc001knh.3	P18669	OTTHUMG00000018846	ENST00000334828.5:c.374C>T	10.37:g.99190370C>T	ENSP00000359991:p.Pro125Leu		Somatic				PGAM1_ENST00000467867.1_3'UTR	p.P125L	NM_002629.2	NP_002620.1	WXS	Illumina GAIIx	Phase_I	P18669	PGAM1_HUMAN		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)	2	522	+		Colorectal(252;0.162)	125			Pro-rich.		Q9BWC0	Missense_Mutation	SNP	ENST00000334828.5	37	c.374C>T	CCDS7458.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225340	0.39300	.	.	ENSG00000171314	ENST00000334828;ENST00000425387	T	0.79554	-1.28	5.59	4.69	0.59074	Histidine phosphatase superfamily, clade-1 (2);	0.126462	0.53938	D	0.000052	T	0.78941	0.4363	M	0.76170	2.325	0.58432	D	0.999997	B;B;B	0.33198	0.401;0.016;0.065	B;B;B	0.26517	0.07;0.021;0.032	T	0.79776	-0.1661	10	0.66056	D	0.02	-23.532	14.3691	0.66828	0.0:0.9278:0.0:0.0722	.	110;125;125	B4DKL5;Q0D2Q6;P18669	.;.;PGAM1_HUMAN	L	125;15	ENSP00000359991:P125L	ENSP00000359991:P125L	P	+	2	0	PGAM1	99180360	0.790000	0.28787	0.494000	0.27515	0.548000	0.35241	4.683000	0.61679	1.373000	0.46208	-0.215000	0.12644	CCG		0.527	PGAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049652.1	NM_002629		20	84	0	0	0	1	0	20	84					T	99190370	C	T	99190370	3	4	39	1	0	0	0	0	1	0	0	0	11782	652	23	1	380	1	PGAM1	10	99190370	Missense_Mutation	SNP	C	TCGA-NA-A4QV-01A-11D-A28R-08	18119583	99190370	36344377	18	3812										
BTRC	8945	broad.mit.edu	37	chr10	103190192	103190192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	tgtataacccagggactggcGcactcacagctttccaggta	10	12	1	0			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:103190192G>A	ENST00000370187.3	+	2	257	c.139G>A	c.(139-141)Gca>Aca	p.A47T	BTRC_ENST00000393441.4_Missense_Mutation_p.A32T|BTRC_ENST00000408038.2_Intron	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	47					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AGGGACTGGCGCACTCACAGC	0.537																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(139-141)Gca>Aca		beta-transducin repeat containing E3 ubiquitin protein ligase							127	109	115					10																	103190192		2203	4300	6503	SO:0001583	missense	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103190192G>A	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.139G>A	10.37:g.103190192G>A	ENSP00000359206:p.Ala47Thr		Somatic				BTRC_ENST00000408038.2_Intron|BTRC_ENST00000393441.4_Missense_Mutation_p.A32T	p.A47T	NM_033637.3	NP_378663.1	WXS	Illumina GAIIx	Phase_I	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	2	257	+		Colorectal(252;0.234)	47					B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	c.139G>A	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490280	0.64074	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000370183	T;T	0.67523	-0.25;-0.27	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000004	T	0.63931	0.2553	N	0.08118	0	0.45718	D	0.998622	D;D	0.76494	0.999;0.959	D;P	0.68621	0.959;0.835	T	0.61671	-0.7015	10	0.19147	T	0.46	-14.1025	15.8058	0.78506	0.0:0.0:0.8634:0.1366	.	47;47	B7Z3H4;Q9Y297	.;FBW1A_HUMAN	T	47;32;29	ENSP00000359206:A47T;ENSP00000377088:A32T	ENSP00000359202:A29T	A	+	1	0	BTRC	103180182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.246000	0.58740	2.857000	0.98124	0.650000	0.86243	GCA		0.537	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		26	42	0	0	0	1	0	26	42					A	103190192	G	A	103190192	3	1	39	1	0	0	0	0	1	0	0	0	1571	1087	38	1	145	1	BTRC	10	103190192	Missense_Mutation	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08	3999822	103190192	32344555	19	3813										
OBFC1	79991	broad.mit.edu	37	chr10	105657468	105657468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	agactggggaggtccagggcGcctggattgctgcggaggga	20	8	0	1			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:105657468G>A	ENST00000224950.3	-	7	758	c.591C>T	c.(589-591)ggC>ggT	p.G197G	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Silent_p.G197G	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	197	Winged helix-turn-helix (wHTH) 1.				positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GGTCCAGGGCGCCTGGATTGC	0.453																																						ENST00000224950.3																			0				large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13						c.(589-591)ggC>ggT		oligonucleotide/oligosaccharide-binding fold containing 1							67	71	70					10																	105657468		2203	4300	6503	SO:0001819	synonymous_variant	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105657468G>A	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.591C>T	10.37:g.105657468G>A			Somatic				OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Silent_p.G197G	p.G197G	NM_024928.4	NP_079204.2	WXS	Illumina GAIIx	Phase_I	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	7	758	-		Colorectal(252;0.178)	197					D3DR99|Q5TCZ0	Silent	SNP	ENST00000224950.3	37	c.591C>T	CCDS7552.1																																																																																				0.453	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928		31	109	0	0	0	1	0	31	109					A	105657468	G	A	105657468	2	1	39	1	0	0	0	0	0	0	0	1	10816	1074	38	1		1	OBFC1	10	105657468	Silent	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08	2467276	105657468	29877279	20	3814										
TACC2	10579	broad.mit.edu	37	chr10	123810033	123810033	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	aaaaggaagcagcaggacacGcccggaagccctgaccacag	12	13	0	1			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:123810033G>T	ENST00000369005.1	+	3	454	c.114G>T	c.(112-114)acG>acT	p.T38T	TACC2_ENST00000515603.1_Silent_p.T38T|TACC2_ENST00000453444.2_Silent_p.T38T|TACC2_ENST00000358010.1_Silent_p.T38T|TACC2_ENST00000515273.1_Silent_p.T38T|TACC2_ENST00000513429.1_Silent_p.T38T|TACC2_ENST00000334433.3_Silent_p.T38T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	38					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)				AGCAGGACACGCCCGGAAGCC	0.577																																						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.(112-114)acG>acT		transforming, acidic coiled-coil containing protein 2							47	49	48					10																	123810033		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123810033G>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.114G>T	10.37:g.123810033G>T			Somatic				TACC2_ENST00000515273.1_Silent_p.T38T|TACC2_ENST00000453444.2_Silent_p.T38T|TACC2_ENST00000334433.3_Silent_p.T38T|TACC2_ENST00000515603.1_Silent_p.T38T|TACC2_ENST00000358010.1_Silent_p.T38T|TACC2_ENST00000513429.1_Silent_p.T38T	p.T38T	NM_206862.2	NP_996744.2	WXS	Illumina GAIIx	Phase_I	O95359	TACC2_HUMAN			3	454	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	38					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.114G>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	6.412	0.444115	0.12164	.	.	ENSG00000138162	ENST00000491540	.	.	.	4.39	-8.31	0.01001	.	.	.	.	.	T	0.24353	0.0590	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24905	-1.0147	4	.	.	.	2.2023	7.3401	0.26632	0.6128:0.0:0.1716:0.2156	.	.	.	.	S	55	.	.	A	+	1	0	TACC2	123800023	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-2.460000	0.00999	-1.992000	0.00975	-0.768000	0.03414	GCC		0.577	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			21	31	1	0	2.4624e-09	1	2.56946e-09	21	31					T	123810033	G	T	123810033	2	4	39	1	0	0	0	0	0	0	0	1	15517	1074	38	5		5	TACC2	10	123810033	Silent	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08	18152565	123810033	11724714	21	3815										
OR6A2	8590	broad.mit.edu	37	chr11	6816677	6816677	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	gtccatgatcctgtttggatCcaacaaagccagcaagcatc	8	12	0	1			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:6816677C>G	ENST00000332601.3	-	1	451	c.263G>C	c.(262-264)gGa>gCa	p.G88A		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	88					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|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(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGTTTGGATCCAACAAAGCC	0.463																																						ENST00000332601.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(262-264)gGa>gCa		olfactory receptor, family 6, subfamily A, member 2							149	140	143					11																	6816677		2201	4296	6497	SO:0001583	missense	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816677C>G	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"GPCR / Class A : Olfactory receptors"	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.263G>C	11.37:g.6816677C>G	ENSP00000330384:p.Gly88Ala		Somatic					p.G88A	NM_003696.2	NP_003687.2	WXS	Illumina GAIIx	Phase_I	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	451	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	88					Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	c.263G>C	CCDS7772.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.765672	0.00651	.	.	ENSG00000184933	ENST00000332601	T	0.02890	4.12	4.88	0.525	0.17072	GPCR, rhodopsin-like superfamily (1);	0.528450	0.16484	N	0.212414	T	0.01092	0.0036	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48043	-0.9069	10	0.19590	T	0.45	.	2.756	0.05293	0.3292:0.4194:0.16:0.0913	.	88	O95222	OR6A2_HUMAN	A	88	ENSP00000330384:G88A	ENSP00000330384:G88A	G	-	2	0	OR6A2	6773253	0.000000	0.05858	0.000000	0.03702	0.214000	0.24535	-0.052000	0.11865	0.329000	0.23460	-0.261000	0.10672	GGA		0.463	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		47	40	0	0	0	1	0	47	40					G	6816677	C	G	6816677	3	3	39	1	0	0	0	0	1	0	0	0	11195	855	30	2	724	2	OR6A2	11	6816677	Missense_Mutation	SNP	C	TCGA-NA-A4QV-01A-11D-A28R-08		6816677	128189839	22	3816										
COPB1	1315	broad.mit.edu	37	chr11	14490350	14490350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	tcattcttagcagttagttgCatgaaggaaatggggtcatc	11	6	3	1			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:14490350C>T	ENST00000249923.3	-	16	2322	c.2022G>A	c.(2020-2022)atG>atA	p.M674I	COPB1_ENST00000439561.2_Missense_Mutation_p.M674I	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	674					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						CAGTTAGTTGCATGAAGGAAA	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.(2020-2022)atG>atA		coatomer protein complex, subunit beta 1							220	200	207					11																	14490350		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.chr11:14490350C>T	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2022G>A	11.37:g.14490350C>T	ENSP00000249923:p.Met674Ile		Somatic				COPB1_ENST00000439561.2_Missense_Mutation_p.M674I	p.M674I	NM_016451.4	NP_057535.1	WXS	Illumina GAIIx	Phase_I	P53618	COPB_HUMAN			16	2322	-			674					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.2022G>A	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777705	0.70107	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.41400	1.0;1.0	5.32	5.32	0.75619	Coatomer, beta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	L	0.44542	1.39	0.80722	D	1	B	0.18741	0.03	B	0.17433	0.018	T	0.19910	-1.0291	10	0.49607	T	0.09	.	18.996	0.92813	0.0:1.0:0.0:0.0	.	674	P53618	COPB_HUMAN	I	674	ENSP00000249923:M674I;ENSP00000397873:M674I	ENSP00000249923:M674I	M	-	3	0	COPB1	14446926	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.535000	0.82014	2.494000	0.84150	0.650000	0.86243	ATG		0.398	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		37	147	0	0	0	1	0	37	147					T	14490350	C	T	14490350	3	4	39	1	0	0	0	0	1	0	0	0	3730	710	25	3	867	3	COPB1	11	14490350	Missense_Mutation	SNP	C	TCGA-NA-A4QV-01A-11D-A28R-08	7673673	14490350	120516166	23	3817										
F2	2147	broad.mit.edu	37	chr11	46740793	46740794	+	Frame_Shift_Ins	INS	-	-	CGTC													0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	agctgacacactatggcgcaINScgtccgaggcttgcagctgc							TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:46740793_46740794insCGTC	ENST00000311907.5	+	1	64_65	c.8_9insCGTC	c.(7-12)cacgtcfs	p.-5fs	F2_ENST00000530231.1_Frame_Shift_Ins_p.-5fs	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)						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)	ACTATGGCGCACGTCCGAGGCT	0.579																																					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.(7-9)cgtfs		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)																																			SO:0001589	frameshift_variant	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.chr11:46740793_46740794insCGTC	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.9_12dupCGTC	11.37:g.46740794_46740797dupCGTC	ENSP00000308541:p.Arg5fs		Somatic				F2_ENST00000530231.1_Frame_Shift_Ins_p.R3fs	p.R3fs	NM_000506.3	NP_000497.1	WXS	Illumina GAIIx	Phase_I	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	1	64_65	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	3					B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Frame_Shift_Ins	INS	ENST00000311907.5	37	c.8_9insCGTC	CCDS31476.1																																																																																				0.579	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			39	10						39	10	---	---	---	---	CGTC	46740794	-	CGTC	46740793	7	5	39	1	0	1	1	0	0	0	0	0	5344	159	6	0	10	0	F2	11	46740793	Frame_Shift_Ins	INS	-	TCGA-NA-A4QV-01A-11D-A28R-08	32250443	46740793	88265723	24	3818										
OR4D9	390199	broad.mit.edu	37	chr11	59282485	59282485	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	tatttaccttcctgtttttgGtgtacatgacaactctaatg	6	8	1	1			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:59282485G>T	ENST00000329328.3	+	1	100	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCTGTTTTTGGTGTACATGAC	0.438																																						ENST00000329328.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						c.(100-102)Gtg>Ttg		olfactory receptor, family 4, subfamily D, member 9							196	192	193					11																	59282485		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282485G>T	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.100G>T	11.37:g.59282485G>T	ENSP00000328563:p.Val34Leu		Somatic					p.V34L	NM_001004711.1	NP_001004711.1	WXS	Illumina GAIIx	Phase_I	Q8NGE8	OR4D9_HUMAN			1	100	+			34					Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.100G>T	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	G	3.162	-0.171824	0.06421	.	.	ENSG00000172742	ENST00000329328	T	0.00418	7.49	4.08	1.94	0.25998	.	0.211904	0.23153	U	0.051325	T	0.00241	0.0007	L	0.28054	0.825	0.09310	N	1	B	0.17268	0.021	B	0.21151	0.033	T	0.32587	-0.9901	10	0.21014	T	0.42	.	9.0171	0.36177	0.0:0.1603:0.6744:0.1653	.	34	Q8NGE8	OR4D9_HUMAN	L	34	ENSP00000328563:V34L	ENSP00000328563:V34L	V	+	1	0	OR4D9	59039061	0.000000	0.05858	0.150000	0.22450	0.093000	0.18481	0.015000	0.13355	0.782000	0.33613	0.591000	0.81541	GTG		0.438	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		50	101	1	0	1.47099e-08	1	1.51302e-08	50	101					T	59282485	G	T	59282485	3	4	39	1	0	0	0	0	1	0	0	0	11068	1261	44	5	102	5	OR4D9	11	59282485	Missense_Mutation	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08	12541692	59282485	75724031	25	3819										
TMEM132A	54972	broad.mit.edu	37	chr11	60694716	60694716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	ctggaccctgtctacctgccGgcagccctggagctcctaga	11	16	1	1			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:60694716G>A	ENST00000453848.2	+	2	299	c.141G>A	c.(139-141)ccG>ccA	p.P47P	TMEM132A_ENST00000005286.4_Silent_p.P47P|RP11-881M11.4_ENST00000543907.1_RNA			Q24JP5	T132A_HUMAN	transmembrane protein 132A	47						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						TCTACCTGCCGGCAGCCCTGG	0.632																																						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.(139-141)ccG>ccA		transmembrane protein 132A							58	65	63					11																	60694716		2203	4299	6502	SO:0001819	synonymous_variant	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60694716G>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.141G>A	11.37:g.60694716G>A			Somatic				TMEM132A_ENST00000453848.2_Silent_p.P47P	p.P47P	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	WXS	Illumina GAIIx	Phase_I	Q24JP5	T132A_HUMAN			2	294	+			47					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	c.141G>A	CCDS44618.1																																																																																				0.632	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		31	103	0	0	0	1	0	31	103					A	60694716	G	A	60694716	2	1	39	1	0	0	0	0	0	0	0	1	16060	1103	39	1		1	TMEM132A	11	60694716	Silent	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08	1412231	60694716	74311800	26	3820										
CCDC88B	283234	broad.mit.edu	37	chr11	64109583	64109583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	tgcagctggccaacgccaagGctcagctgcggcgtctgcgg	15	14	2	0			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:64109583G>A	ENST00000356786.5	+	8	837	c.793G>A	c.(793-795)Gct>Act	p.A265T	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	265						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAACGCCAAGGCTCAGCTGCG	0.677																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(793-795)Gct>Act		coiled-coil domain containing 88B							12	14	13					11																	64109583		2196	4291	6487	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64109583G>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.793G>A	11.37:g.64109583G>A	ENSP00000349238:p.Ala265Thr		Somatic				CCDC88B_ENST00000463837.1_3'UTR	p.A265T	NM_032251.5	NP_115627.6	WXS	Illumina GAIIx	Phase_I	A6NC98	CC88B_HUMAN			8	837	+			265					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.793G>A	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	.	32	5.138311	0.94560	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.57752	0.38	3.96	3.96	0.45880	.	.	.	.	.	T	0.69922	0.3165	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73610	-0.3928	9	0.87932	D	0	.	11.8013	0.52128	0.0:0.0:1.0:0.0	.	265;265	B2RTU8;A6NC98	.;CC88B_HUMAN	T	265	ENSP00000349238:A265T	ENSP00000349238:A265T	A	+	1	0	CCDC88B	63866159	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.928000	0.56506	2.242000	0.73789	0.437000	0.28790	GCT		0.677	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		17	9	0	0	0	1	0	17	9					A	64109583	G	A	64109583	3	1	39	1	0	0	0	0	1	0	0	0	2866	1203	42	3	823	3	CCDC88B	11	64109583	Missense_Mutation	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08	3414867	64109583	70896933	27	3821										
DPY19L2	283417	broad.mit.edu	37	chr12	63974461	63974461	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	cctgatgtggtactgtatttGatccactgtaaaagttcttc	8	8	1	2			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:63974461G>C	ENST00000324472.4	-	19	2064	c.1881C>G	c.(1879-1881)atC>atG	p.I627M	DPY19L2_ENST00000413230.2_Missense_Mutation_p.I74M	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	627					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TACTGTATTTGATCCACTGTA	0.318																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1879-1881)atC>atG		dpy-19-like 2 (C. elegans)							90	90	90					12																	63974461		2203	4300	6503	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63974461G>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.1881C>G	12.37:g.63974461G>C	ENSP00000315988:p.Ile627Met		Somatic				DPY19L2_ENST00000413230.2_Missense_Mutation_p.I74M	p.I627M	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)	19	2064	-			627					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.1881C>G	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861418	0.32884	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.67865	-0.29;-0.29	3.49	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.76485	0.3994	M	0.73962	2.25	0.46901	D	0.999245	D	0.61080	0.989	D	0.65573	0.936	T	0.76735	-0.2850	9	.	.	.	.	8.3201	0.32124	0.0:0.0:0.7643:0.2357	.	627	Q6NUT2	D19L2_HUMAN	M	627;74	ENSP00000315988:I627M;ENSP00000439794:I74M	.	I	-	3	3	DPY19L2	62260728	1.000000	0.71417	0.989000	0.46669	0.526000	0.34562	1.396000	0.34531	1.920000	0.55613	0.305000	0.20034	ATC		0.318	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		20	100	0	0	0	1	0	20	100					C	63974461	G	C	63974461	3	2	39	1	0	0	0	0	1	0	0	0	4743	1280	45	2	411	2	DPY19L2	12	63974461	Missense_Mutation	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08		63974461	69877434	28	3822			1	5		3	3	112	G		1.926831e-08
DPY19L2	283417	broad.mit.edu	37	chr12	63974520	63974520	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	ttctcctattatgctccattGattacggaggtttgcataac	7	9	1	1			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:63974520G>C	ENST00000324472.4	-	19	2005	c.1822C>G	c.(1822-1824)Caa>Gaa	p.Q608E	DPY19L2_ENST00000413230.2_Missense_Mutation_p.Q55E	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	608					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATGCTCCATTGATTACGGAGG	0.373																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1822-1824)Caa>Gaa		dpy-19-like 2 (C. elegans)							74	73	73					12																	63974520		2203	4298	6501	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63974520G>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.1822C>G	12.37:g.63974520G>C	ENSP00000315988:p.Gln608Glu		Somatic				DPY19L2_ENST00000413230.2_Missense_Mutation_p.Q55E	p.Q608E	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)	19	2005	-			608					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.1822C>G	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515896	0.44763	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.53640	0.61;0.61	3.49	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	L	0.49778	1.585	0.51012	D	0.999908	P	0.50710	0.938	P	0.60415	0.874	T	0.55724	-0.8096	9	.	.	.	.	12.8541	0.57876	0.0:0.0:1.0:0.0	.	608	Q6NUT2	D19L2_HUMAN	E	608;55	ENSP00000315988:Q608E;ENSP00000439794:Q55E	.	Q	-	1	0	DPY19L2	62260787	1.000000	0.71417	0.971000	0.41717	0.609000	0.37215	8.128000	0.89595	1.920000	0.55613	0.305000	0.20034	CAA		0.373	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		15	93	0	0	0	1	0	15	93					C	63974520	G	C	63974520	3	2	39	1	0	0	0	0	1	0	0	0	4743	1299	45	2	470	2	DPY19L2	12	63974520	Missense_Mutation	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08	59	63974520	69877375	29	3823			1	5		3	3	112	G		1.926831e-08
DPY19L2	283417	broad.mit.edu	37	chr12	63974572	63974572	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	atcactgttaaaatgccaaaGataaccttctcaaaacgaac	4	10	2	1			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:63974572G>C	ENST00000324472.4	-	19	1953	c.1770C>G	c.(1768-1770)atC>atG	p.I590M	DPY19L2_ENST00000413230.2_Missense_Mutation_p.I37M	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	590					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAATGCCAAAGATAACCTTCT	0.373																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1768-1770)atC>atG		dpy-19-like 2 (C. elegans)							85	79	81					12																	63974572		2203	4300	6503	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63974572G>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.1770C>G	12.37:g.63974572G>C	ENSP00000315988:p.Ile590Met		Somatic				DPY19L2_ENST00000413230.2_Missense_Mutation_p.I37M	p.I590M	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)	19	1953	-			590					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.1770C>G	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733889	0.30684	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.55760	0.5;0.5	3.49	3.49	0.39957	.	0.181560	0.47852	D	0.000214	T	0.51007	0.1649	N	0.24115	0.695	0.25363	N	0.988769	D	0.53619	0.961	P	0.57620	0.824	T	0.41466	-0.9507	9	.	.	.	.	12.8541	0.57876	0.0:0.0:1.0:0.0	.	590	Q6NUT2	D19L2_HUMAN	M	590;37	ENSP00000315988:I590M;ENSP00000439794:I37M	.	I	-	3	3	DPY19L2	62260839	1.000000	0.71417	0.998000	0.56505	0.171000	0.22731	2.692000	0.47018	1.920000	0.55613	0.305000	0.20034	ATC		0.373	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		18	77	0	0	0	1	0	18	77					C	63974572	G	C	63974572	3	2	39	1	0	0	0	0	1	0	0	0	4743	932	33	2	522	2	DPY19L2	12	63974572	Missense_Mutation	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08	52	63974572	69877323	30	3824			1	5		3	3	112	G		1.926831e-08
NAV3	89795	broad.mit.edu	37	chr12	78362441	78362441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	actcacgcttcccctccatcGgaagccagccaggccaaaac	7	18	1	0			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:78362441G>A	ENST00000397909.2	+	5	803	c.630G>A	c.(628-630)tcG>tcA	p.S210S	NAV3_ENST00000266692.7_Silent_p.S210S|NAV3_ENST00000536525.2_Silent_p.S210S|NAV3_ENST00000228327.6_Silent_p.S210S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	210			S -> W (in dbSNP:rs34195711).			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						CCCCTCCATCGGAAGCCAGCC	0.458										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.(628-630)tcG>tcA		neuron navigator 3							56	58	57					12																	78362441		1968	4168	6136	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78362441G>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.630G>A	12.37:g.78362441G>A		HNSCC(70;0.22)	Somatic				NAV3_ENST00000536525.2_Silent_p.S210S|NAV3_ENST00000228327.6_Silent_p.S210S|NAV3_ENST00000266692.7_Silent_p.S210S	p.S210S			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			5	803	+			210		S -> W (in dbSNP:rs34195711).			Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.630G>A		.	.	.	.	.	.	.	.	.	.	G	0.977	-0.698360	0.03279	.	.	ENSG00000067798	ENST00000550503	.	.	.	5.85	-3.92	0.04155	.	.	.	.	.	T	0.38639	0.1048	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37454	-0.9705	4	.	.	.	1.0831	2.1892	0.03894	0.4335:0.0811:0.2979:0.1875	.	.	.	.	R	57	.	.	G	+	1	0	NAV3	76886572	0.481000	0.25941	0.072000	0.20136	0.008000	0.06430	0.479000	0.22228	-0.454000	0.07066	0.637000	0.83480	GGA		0.458	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		18	34	0	0	0	1	0	18	34					A	78362441	G	A	78362441	2	1	39	1	0	0	0	0	0	0	0	1	10194	1103	39	1		1	NAV3	12	78362441	Silent	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08	14387869	78362441	55489454	31	3825										
MYBPC1	4604	broad.mit.edu	37	chr12	102046898	102046898	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	tgcttaatattctagatcctCctaagatcatcctggatggt	7	9	2	2			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:102046898C>A	ENST00000550270.1	+	16	1564	c.1564C>A	c.(1564-1566)Cct>Act	p.P522T	MYBPC1_ENST00000441232.1_Missense_Mutation_p.P522T|MYBPC1_ENST00000541119.1_Missense_Mutation_p.P510T|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P522T|MYBPC1_ENST00000547405.1_Missense_Mutation_p.P496T|MYBPC1_ENST00000361466.2_Missense_Mutation_p.P547T|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P522T|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P522T|MYBPC1_ENST00000551300.1_Missense_Mutation_p.P423T|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P508T|RP11-755O11.2_ENST00000547027.1_RNA|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000392934.3_Missense_Mutation_p.P509T|MYBPC1_ENST00000549145.1_Missense_Mutation_p.P535T|MYBPC1_ENST00000545503.2_Missense_Mutation_p.P522T|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P547T|MYBPC1_ENST00000536007.1_Missense_Mutation_p.P503T			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	522	Ig-like C2-type 5.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCTAGATCCTCCTAAGATCAT	0.413																																						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.(1603-1605)Cct>Act		myosin binding protein C, slow type							102	93	96					12																	102046898		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102046898C>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.1564C>A	12.37:g.102046898C>A	ENSP00000449702:p.Pro522Thr		Somatic				MYBPC1_ENST00000545503.2_Missense_Mutation_p.P522T|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P522T|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000551300.1_Missense_Mutation_p.P423T|MYBPC1_ENST00000541119.1_Missense_Mutation_p.P510T|MYBPC1_ENST00000550270.1_Missense_Mutation_p.P522T|MYBPC1_ENST00000536007.1_Missense_Mutation_p.P503T|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P522T|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P508T|MYBPC1_ENST00000547405.1_Missense_Mutation_p.P496T|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P522T|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P547T|MYBPC1_ENST00000392934.3_Missense_Mutation_p.P509T|MYBPC1_ENST00000361466.2_Missense_Mutation_p.P547T|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P522T	p.P535T			WXS	Illumina GAIIx	Phase_I	Q00872	MYPC1_HUMAN			17	1703	+			522			Ig-like C2-type 5.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.1603C>A	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780969	0.90282	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.71	5.71	0.89125	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000092	D	0.83128	0.5187	H	0.97103	3.94	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0;0.991;1.0;1.0;0.998;1.0	D;D;D;D;D;P;D;D;D;D	0.91635	0.987;0.999;0.973;0.999;0.999;0.874;0.999;0.999;0.976;0.999	D	0.88372	0.2995	10	0.87932	D	0	.	19.8505	0.96738	0.0:1.0:0.0:0.0	.	503;510;522;522;509;496;522;522;547;547	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	T	496;522;522;522;509;508;547;535;522;547;522;503;510;547;423;522	ENSP00000448175:P496T;ENSP00000400908:P522T;ENSP00000388989:P522T;ENSP00000353822:P522T;ENSP00000376665:P509T;ENSP00000447362:P508T;ENSP00000354845:P547T;ENSP00000447660:P535T;ENSP00000447900:P522T;ENSP00000440034:P522T;ENSP00000446128:P503T;ENSP00000442847:P510T;ENSP00000354849:P547T;ENSP00000447116:P423T;ENSP00000449702:P522T	ENSP00000353822:P522T	P	+	1	0	MYBPC1	100571029	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.688000	0.91661	0.655000	0.94253	CCT		0.413	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			24	18	1	0	5.45024e-15	1	6.03719e-15	24	18					A	102046898	C	A	102046898	3	1	39	1	0	0	0	0	1	0	0	0	10020	855	30	2	1709	2	MYBPC1	12	102046898	Missense_Mutation	SNP	C	TCGA-NA-A4QV-01A-11D-A28R-08	23684457	102046898	31804997	32	3826										
COX6A1	1337	broad.mit.edu	37	chr12	120876300	120876300	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	agacccgagttcatcgcctaCccccatctccgcatcaggac	7	18	3	1			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:120876300C>T	ENST00000229379.2	+	2	259	c.222C>T	c.(220-222)taC>taT	p.Y74Y	AL021546.6_ENST00000551806.1_Missense_Mutation_p.P51S	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	74					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATCGCCTACCCCCATCTCC	0.547																																						ENST00000551806.1																			0											c.(151-153)Ccc>Tcc									121	106	111					12																	120876300		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr12:120876300C>T	X15341	CCDS9197.1	12q24	2011-07-04			ENSG00000111775	ENSG00000111775	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2277	protein-coding gene	gene with protein product		602072		COX6A		9284905	Standard	NM_004373		Approved		uc001tyf.2	P12074	OTTHUMG00000047791	ENST00000229379.2:c.222C>T	12.37:g.120876300C>T			Somatic				COX6A1_ENST00000229379.2_Silent_p.Y74Y	p.P51S			WXS	Illumina GAIIx	Phase_I					2	151	+								B2R500|O43714|Q32Q37	Missense_Mutation	SNP	ENST00000229379.2	37	c.151C>T	CCDS9197.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384232	0.25031	.	.	ENSG00000111780	ENST00000551806	.	.	.	5.13	4.25	0.50352	.	.	.	.	.	T	0.69611	0.3130	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68868	-0.5295	4	.	.	.	-15.2309	13.9545	0.64140	0.0:0.9264:0.0:0.0736	.	.	.	.	S	51	.	.	P	+	1	0	GATC	119360683	0.601000	0.26907	0.993000	0.49108	0.872000	0.50106	1.215000	0.32431	1.295000	0.44724	0.655000	0.94253	CCC		0.547	COX6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108984.3	NM_004373		74	71	0	0	0	1	0	74	71					T	120876300	C	T	120876300	2	4	39	1	0	0	0	0	0	0	0	1	3776	518	18	3		3	COX6A1	12	120876300	Silent	SNP	C	TCGA-NA-A4QV-01A-11D-A28R-08	18829402	120876300	12975595	33	3827										
ULK1	8408	broad.mit.edu	37	chr12	132405699	132405699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	accgtgagggctgcgtcccaCgctaccacaaggccctgctg	12	16	0	1			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:132405699C>T	ENST00000321867.4	+	27	3367	c.3016C>T	c.(3016-3018)Cgc>Tgc	p.R1006C	ULK1_ENST00000540647.1_Missense_Mutation_p.R251C	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1006					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)	p.R1006C(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTGCGTCCCACGCTACCACAA	0.672																																						ENST00000321867.4																			1	Substitution - Missense(1)	p.R1006C(1)	endometrium(1)	breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(3016-3018)Cgc>Tgc		unc-51 like autophagy activating kinase 1							47	46	46					12																	132405699		2203	4299	6502	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132405699C>T	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.3016C>T	12.37:g.132405699C>T	ENSP00000324560:p.Arg1006Cys		Somatic				ULK1_ENST00000540647.1_Missense_Mutation_p.R251C	p.R1006C	NM_003565.2	NP_003556.1	WXS	Illumina GAIIx	Phase_I	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	27	3367	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		1006					Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.3016C>T	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271482	0.59649	.	.	ENSG00000177169	ENST00000321867;ENST00000540647	T;T	0.47177	0.85;0.85	5.03	3.18	0.36537	Serine/threonine-protein kinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68584	-0.5370	10	0.87932	D	0	-33.4697	8.392	0.32533	0.3826:0.5436:0.0:0.0738	.	1006	O75385	ULK1_HUMAN	C	1006;251	ENSP00000324560:R1006C;ENSP00000441794:R251C	ENSP00000324560:R1006C	R	+	1	0	ULK1	130971652	1.000000	0.71417	0.616000	0.29078	0.645000	0.38454	2.174000	0.42482	0.606000	0.29965	0.561000	0.74099	CGC		0.672	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			20	39	0	0	0	1	0	20	39					T	132405699	C	T	132405699	3	4	39	1	0	0	0	0	1	0	0	0	16990	536	19	1	3122	1	ULK1	12	132405699	Missense_Mutation	SNP	C	TCGA-NA-A4QV-01A-11D-A28R-08	11529399	132405699	1446196	34	3828										
ZFP36L1	677	broad.mit.edu	37	chr14	69256296	69256296	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	tgaagatgggcaggcgtcttGagttgtccaaggtcggggag	18	6	1	3			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr14:69256296G>C	ENST00000439696.2	-	2	1272	c.971C>G	c.(970-972)tCa>tGa	p.S324*	ZFP36L1_ENST00000336440.3_Nonsense_Mutation_p.S324*|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	324					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)		CAGGCGTCTTGAGTTGTCCAA	0.607											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.(970-972)tCa>tGa		ZFP36 ring finger protein-like 1							93	95	95					14																	69256296		2203	4300	6503	SO:0001587	stop_gained	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256296G>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.971C>G	14.37:g.69256296G>C	ENSP00000388402:p.Ser324*		Somatic	OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000336440.3_Nonsense_Mutation_p.S324*|ZFP36L1_ENST00000555997.1_3'UTR	p.S324*	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	1272	-			324					Q13851	Nonsense_Mutation	SNP	ENST00000439696.2	37	c.971C>G	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	G	51	17.949394	0.99896	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246	.	.	.	4.55	4.55	0.56014	.	0.073354	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-7.4309	17.4847	0.87684	0.0:0.0:1.0:0.0	.	.	.	.	X	324;324;307	.	ENSP00000337386:S324X	S	-	2	0	ZFP36L1	68326049	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.131000	0.71670	2.353000	0.79882	0.591000	0.81541	TCA		0.607	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			104	86	0	0	0	1	0	104	86					C	69256296	G	C	69256296	4	2	39	1	0	0	0	0	0	1	0	0	17661	1294	45	2	49	2	ZFP36L1	14	69256296	Nonsense_Mutation	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08		69256296	38093244	35	3829										
DYNC1H1	1778	broad.mit.edu	37	chr14	102455116	102455116	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	tcttcttggacaagctgaagAtaaagcagaagttgacatgg	11	6	2	4			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr14:102455116A>G	ENST00000360184.4	+	10	2959	c.2795A>G	c.(2794-2796)gAt>gGt	p.D932G		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	932	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						CAAGCTGAAGATAAAGCAGAA	0.458																																						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.(2794-2796)gAt>gGt		dynein, cytoplasmic 1, heavy chain 1							102	86	92					14																	102455116		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.chr14:102455116A>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.2795A>G	14.37:g.102455116A>G	ENSP00000348965:p.Asp932Gly		Somatic					p.D932G	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			10	2959	+			932			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.2795A>G	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.726873	0.69074	.	.	ENSG00000197102	ENST00000360184	T	0.30182	1.54	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	L	0.49126	1.545	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.33111	-0.9881	10	0.34782	T	0.22	.	16.2037	0.82105	1.0:0.0:0.0:0.0	.	932	Q14204	DYHC1_HUMAN	G	932	ENSP00000348965:D932G	ENSP00000348965:D932G	D	+	2	0	DYNC1H1	101524869	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.902000	0.92568	2.284000	0.76573	0.533000	0.62120	GAT		0.458	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		43	30	0	0	0	1	0	43	30					G	102455116	A	G	102455116	3	3	39	1	0	0	0	0	1	0	0	0	4843	333	12	4	2833	4	DYNC1H1	14	102455116	Missense_Mutation	SNP	A	TCGA-NA-A4QV-01A-11D-A28R-08	33198820	102455116	4894424	36	3830										
PML	5371	broad.mit.edu	37	chr15	74336610	74336610	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	gaaccgggaaagcaagttccGcgtggtcatccagcctgaag	13	11	1	1			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr15:74336610G>C	ENST00000268058.3	+	9	2006	c.1910G>C	c.(1909-1911)cGc>cCc	p.R637P	PML_ENST00000565898.1_Missense_Mutation_p.R589P	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	637					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						AGCAAGTTCCGCGTGGTCATC	0.612			T	"RARA, PAX5"	"APL, ALL"																																	ENST00000565898.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"RARA, PAX5"		"APL, ALL"		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1765-1767)cGc>cCc		promyelocytic leukemia							69	66	67					15																	74336610		2198	4297	6495	SO:0001583	missense	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74336610G>C	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.1910G>C	15.37:g.74336610G>C	ENSP00000268058:p.Arg637Pro		Somatic				PML_ENST00000268058.3_Missense_Mutation_p.R637P	p.R589P			WXS	Illumina GAIIx	Phase_I	P29590	PML_HUMAN			8	1850	+			637					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.1766G>C	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353995	0.41700	.	.	ENSG00000140464	ENST00000268058;ENST00000417341;ENST00000418568	T	0.51071	0.72	5.22	4.31	0.51392	.	0.277119	0.26704	N	0.022927	T	0.47673	0.1458	L	0.29908	0.895	0.38547	D	0.949353	D;D	0.59767	0.986;0.98	P;P	0.58391	0.806;0.838	T	0.53472	-0.8434	10	0.72032	D	0.01	-12.307	7.1341	0.25519	0.0904:0.1728:0.7368:0.0	.	637;589	P29590;P29590-11	PML_HUMAN;.	P	637;198;637	ENSP00000268058:R637P	ENSP00000268058:R637P	R	+	2	0	PML	72123663	0.047000	0.20315	0.863000	0.33907	0.155000	0.21991	0.819000	0.27308	1.430000	0.47334	0.591000	0.81541	CGC		0.612	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		25	94	0	0	0	1	0	25	94					C	74336610	G	C	74336610	3	2	39	1	0	0	0	0	1	0	0	0	12144	1087	38	5	2961	5	PML	15	74336610	Missense_Mutation	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08		74336610	28194782	37	3831										
DNAJA2	10294	broad.mit.edu	37	chr16	46993254	46993254	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	ccatcaaggtgcttaaatgtGaactgaaatccacatagagc	8	9	1	3			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr16:46993254G>A	ENST00000317089.5	-	7	1067	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	284					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				GCTTAAATGTGAACTGAAATC	0.368																																						ENST00000317089.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(850-852)ttC>ttT		DnaJ (Hsp40) homolog, subfamily A, member 2							106	111	109					16																	46993254		2203	4300	6503	SO:0001819	synonymous_variant	10294				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr16:46993254G>A	AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"Heat shock proteins / DNAJ (HSP40)"	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.852C>T	16.37:g.46993254G>A			Somatic					p.F284F	NM_005880.3	NP_005871.1	WXS	Illumina GAIIx	Phase_I	O60884	DNJA2_HUMAN			7	1067	-		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)	284					B2R7L7|O14711	Silent	SNP	ENST00000317089.5	37	c.852C>T	CCDS10726.1																																																																																				0.368	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2			45	46	0	0	0	1	0	45	46					A	46993254	G	A	46993254	2	1	39	1	0	0	0	0	0	0	0	1	4614	1281	45	3		3	DNAJA2	16	46993254	Silent	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08		46993254	43361499	38	3832										
CES8	283848	broad.mit.edu	37	chr16	67040714	67040714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	atactgggccaactttgcccGcacagggtgagtctgccccc	11	15	1	1	rs201670214		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr16:67040714G>A	ENST00000326686.5	+	13	1511	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	CES4A_ENST00000540947.2_Intron|CES4A_ENST00000338718.4_Intron|CES4A_ENST00000535696.1_Intron|CES4A_ENST00000398354.1_Missense_Mutation_p.R434H|CES4A_ENST00000397205.2_Intron|CES4A_ENST00000541479.1_Missense_Mutation_p.R457H|CES4A_ENST00000540579.1_Missense_Mutation_p.R406H			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	504						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						AACTTTGCCCGCACAGGGTGA	0.567																																						ENST00000326686.5																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(1510-1512)cGc>cAc		carboxylesterase 4A		G	HIS/ARG,,	0,4074		0,0,2037	83	87	86		1217,,	2.2	0.9	16		86	1,8421		0,1,4210	yes	missense,intron,intron	CES4A	NM_001190201.1,NM_001190202.1,NM_173815.6	29,,	0,1,6247	AA,AG,GG		0.0119,0.0,0.0080	benign,,	406/464,,	67040714	1,12495	2037	4211	6248	SO:0001583	missense	283848					extracellular region	carboxylesterase activity	g.chr16:67040714G>A	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"Carboxylesterases"	26741	protein-coding gene	gene with protein product			"carboxylesterase 8 (putative)"	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.1511G>A	16.37:g.67040714G>A	ENSP00000314145:p.Arg504His		Somatic				CES4A_ENST00000397205.2_Intron|CES4A_ENST00000398354.1_Missense_Mutation_p.R434H|CES4A_ENST00000540579.1_Missense_Mutation_p.R406H|CES4A_ENST00000540947.2_Intron|CES4A_ENST00000541479.1_Missense_Mutation_p.R457H|CES4A_ENST00000535696.1_Intron|CES4A_ENST00000338718.4_Intron	p.R504H			WXS	Illumina GAIIx	Phase_I	Q5XG92	EST4A_HUMAN			13	1511	+			504					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37	c.1511G>A		.	.	.	.	.	.	.	.	.	.	G	14.37	2.515376	0.44763	0.0	1.19E-4	ENSG00000172824	ENST00000541479;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.41	2.25	0.28309	.	0.731670	0.12145	N	0.495484	T	0.62539	0.2436	M	0.75884	2.315	0.25581	N	0.986796	B	0.23735	0.09	B	0.21546	0.035	T	0.57271	-0.7840	10	0.59425	D	0.04	.	4.9007	0.13773	0.085:0.1483:0.6133:0.1533	.	457	F5H5S4	.	H	457;434;504;397;406	ENSP00000443175:R457H;ENSP00000381397:R434H;ENSP00000314145:R504H;ENSP00000441103:R397H;ENSP00000441907:R406H	ENSP00000314145:R504H	R	+	2	0	CES4A	65598215	0.001000	0.12720	0.861000	0.33841	0.801000	0.45260	0.783000	0.26802	0.204000	0.20548	0.591000	0.81541	CGC		0.567	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		5	176	0	0	0	1	0	5	176					A	67040714	G	A	67040714	3	1	39	1	0	0	0	0	1	0	0	0	3275	1087	38	1	1642	1	CES8	16	67040714	Missense_Mutation	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08	20047460	67040714	23314039	39	3833										
HP	3240	broad.mit.edu	37	chr16	72094680	72094680	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	ggaggaggacacctggtatgCgactgggatcttaagctttg	15	7	1	0	rs371304177		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr16:72094680C>G	ENST00000355906.5	+	7	1170	c.1112C>G	c.(1111-1113)gCg>gGg	p.A371G	HP_ENST00000398131.2_Missense_Mutation_p.A312G|HP_ENST00000570083.1_Missense_Mutation_p.A312G|HP_ENST00000565574.1_Missense_Mutation_p.A312G|HPR_ENST00000540303.2_5'Flank|HP_ENST00000357763.4_Missense_Mutation_p.A407G|HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_3'UTR|HPR_ENST00000561690.1_5'Flank	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	371	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		ACCTGGTATGCGACTGGGATC	0.522																																						ENST00000355906.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7						c.(1111-1113)gCg>gGg		haptoglobin							222	216	218					16																	72094680		2131	4236	6367	SO:0001583	missense	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72094680C>G		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.1112C>G	16.37:g.72094680C>G	ENSP00000348170:p.Ala371Gly		Somatic				HP_ENST00000570083.1_Missense_Mutation_p.A312G|HP_ENST00000565574.1_Missense_Mutation_p.A312G|HP_ENST00000398131.2_Missense_Mutation_p.A312G|HP_ENST00000562526.1_3'UTR|HPR_ENST00000356967.5_Intron	p.A371G	NM_005143.3	NP_005134.1	WXS	Illumina GAIIx	Phase_I	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	7	1170	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	371			Peptidase S1.		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Missense_Mutation	SNP	ENST00000355906.5	37	c.1112C>G	CCDS45524.1	.	.	.	.	.	.	.	.	.	.	C	2.573	-0.299189	0.05532	.	.	ENSG00000257017	ENST00000355906;ENST00000398131;ENST00000405951;ENST00000357763	D;D	0.89485	-2.52;-2.52	5.21	3.23	0.37069	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.131375	0.49916	D	0.000133	D	0.91891	0.7433	M	0.62209	1.925	0.23331	N	0.997892	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.996;0.998;0.99	D	0.83883	0.0280	10	0.87932	D	0	.	7.9624	0.30079	0.0:0.7529:0.1613:0.0858	.	193;246;312;371	Q6PEJ8;Q6NSB4;Q0VAC5;P00738	.;.;.;HPT_HUMAN	G	371;312;246;347	ENSP00000348170:A371G;ENSP00000381199:A312G	ENSP00000348170:A371G	A	+	2	0	HP	70652181	0.949000	0.32298	0.007000	0.13788	0.016000	0.09150	2.289000	0.43523	0.752000	0.32923	0.650000	0.86243	GCG		0.522	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	NM_005143		38	153	0	0	0	1	0	38	153					G	72094680	C	G	72094680	3	3	39	1	0	0	0	0	1	0	0	0	7336	768	27	5	1138	5	HP	16	72094680	Missense_Mutation	SNP	C	TCGA-NA-A4QV-01A-11D-A28R-08	5053966	72094680	18260073	40	3834										
TP53	7157	broad.mit.edu	37	chr17	7578236	7578236	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	agtgtttctgtcatccaaatActccacacgcaaatttcctt	4	12	2	0			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr17:7578236A>T	ENST00000269305.4	-	6	802	c.613T>A	c.(613-615)Tat>Aat	p.Y205N	TP53_ENST00000455263.2_Missense_Mutation_p.Y205N|TP53_ENST00000445888.2_Missense_Mutation_p.Y205N|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y205N|TP53_ENST00000420246.2_Missense_Mutation_p.Y205N|TP53_ENST00000359597.4_Missense_Mutation_p.Y205N	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	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y205D(13)|p.0?(8)|p.Y205N(8)|p.?(5)|p.Y205H(5)|p.Y112N(2)|p.Y73N(2)|p.Y205fs*43(1)|p.Y205fs*42(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(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)	TCATCCAAATACTCCACACGC	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"		48	Substitution - Missense(30)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.Y205D(13)|p.0?(8)|p.Y205N(8)|p.?(5)|p.Y205H(5)|p.Y112N(2)|p.Y73N(2)|p.Y205fs*43(1)|p.Y205fs*42(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1)	haematopoietic_and_lymphoid_tissue(6)|biliary_tract(5)|large_intestine(5)|endometrium(5)|upper_aerodigestive_tract(4)|central_nervous_system(4)|bone(4)|breast(3)|pancreas(3)|stomach(2)|lung(2)|skin(2)|urinary_tract(1)|oesophagus(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.(613-615)Tat>Aat	Other conserved DNA damage response genes	tumor protein p53							136	121	126					17																	7578236		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.chr17:7578236A>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.613T>A	17.37:g.7578236A>T	ENSP00000269305:p.Tyr205Asn	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.Y205N|TP53_ENST00000359597.4_Missense_Mutation_p.Y205N|TP53_ENST00000269305.4_Missense_Mutation_p.Y205N|TP53_ENST00000413465.2_Missense_Mutation_p.Y205N|TP53_ENST00000445888.2_Missense_Mutation_p.Y205N|TP53_ENST00000574684.1_Intron	p.Y205N	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	745	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	205		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; 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.613T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.346482	0.82022	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	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	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99859	0.9934	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.997;0.999;0.998;0.999;0.999;0.997;0.999	D;D;D;D;D;D;D	0.79108	0.96;0.991;0.972;0.983;0.992;0.983;0.978	D	0.96416	0.9308	10	0.87932	D	0	-5.8058	13.709	0.62656	1.0:0.0:0.0:0.0	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205N;ENSP00000352610:Y205N;ENSP00000269305:Y205N;ENSP00000398846:Y205N;ENSP00000391127:Y205N;ENSP00000391478:Y205N;ENSP00000425104:Y73N;ENSP00000423862:Y112N	ENSP00000269305:Y205N	Y	-	1	0	TP53	7518961	1.000000	0.71417	0.163000	0.22734	0.042000	0.13812	7.465000	0.80898	2.183000	0.69458	0.533000	0.62120	TAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		46	6	0	0	0	1	0	46	6					T	7578236	A	T	7578236	3	4	39	1	0	0	0	0	1	0	0	0	16396	391	14	4	681	4	TP53	17	7578236	Missense_Mutation	SNP	A	TCGA-NA-A4QV-01A-11D-A28R-08		7578236	73616974	41	3835										
PFAS	5198	broad.mit.edu	37	chr17	8157385	8157385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	agactgaactgtgctacaacGtgaactggacaggttgggcc	13	9	0	3			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr17:8157385G>A	ENST00000314666.6	+	2	263	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	44					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GTGCTACAACGTGAACTGGAC	0.602																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(130-132)Gtg>Atg		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						99	84	89					17																	8157385		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8157385G>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.130G>A	17.37:g.8157385G>A	ENSP00000313490:p.Val44Met		Somatic				PFAS_ENST00000545834.1_5'UTR	p.V44M	NM_012393.2	NP_036525.1	WXS	Illumina GAIIx	Phase_I	O15067	PUR4_HUMAN			2	263	+			44					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.130G>A	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702810	0.88924	.	.	ENSG00000178921	ENST00000314666	T	0.56776	0.44	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.74465	0.3720	M	0.84773	2.715	0.80722	D	1	D	0.76494	0.999	D	0.64776	0.929	T	0.78186	-0.2302	10	0.87932	D	0	-19.8861	16.9014	0.86114	0.0:0.0:1.0:0.0	.	44	O15067	PUR4_HUMAN	M	44	ENSP00000313490:V44M	ENSP00000313490:V44M	V	+	1	0	PFAS	8098110	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	4.831000	0.62752	2.860000	0.98153	0.655000	0.94253	GTG		0.602	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			47	63	0	0	0	1	0	47	63					A	8157385	G	A	8157385	3	1	39	1	0	0	0	0	1	0	0	0	11763	1145	40	1	132	1	PFAS	17	8157385	Missense_Mutation	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08	579149	8157385	73037825	42	3836										
TMEM132E	124842	broad.mit.edu	37	chr17	32963037	32963037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	ctgcctcaggtggtgtctccGctgacggaggctgtgctcgg	16	12	2	1			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr17:32963037G>A	ENST00000321639.5	+	9	2047	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	573						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)		TGGTGTCTCCGCTGACGGAGG	0.652																																						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.(1717-1719)ccG>ccA		transmembrane protein 132E							42	33	36					17																	32963037		2201	4298	6499	SO:0001819	synonymous_variant	124842					integral to membrane		g.chr17:32963037G>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.1719G>A	17.37:g.32963037G>A			Somatic					p.P573P	NM_207313.1	NP_997196.1	WXS	Illumina GAIIx	Phase_I	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	9	2047	+			573					Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	c.1719G>A	CCDS11283.1																																																																																				0.652	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		8	7	0	0	0	1	0	8	7					A	32963037	G	A	32963037	2	1	39	1	0	0	0	0	0	0	0	1	16063	1074	38	1		1	TMEM132E	17	32963037	Silent	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08	24805652	32963037	48232173	43	3837										
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240661	39240661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	acccacctgctgtcgccccaCctgctgtgagacgacctgct	9	18	0	1	rs11650484	byFrequency	TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr17:39240661C>G	ENST00000391417.4	+	1	203	c.203C>G	c.(202-204)aCc>aGc	p.T68S		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	68	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		T -> S. {ECO:0000269|PubMed:11279113, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGTCGCCCCACCTGCTGTGAG	0.657													g|||	3229	0.644768	0.9433	0.634	5008	,	,		18672	0.4177		0.6203	False		,,,				2504	0.5082					ENST00000391417.4																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(202-204)aCc>aGc		keratin associated protein 4-7							17	30	26					17																	39240661		691	1591	2282	SO:0001583	missense	100132476							g.chr17:39240661C>G	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.203C>G	17.37:g.39240661C>G	ENSP00000375236:p.Thr68Ser		Somatic					p.T68S	NM_033061.3	NP_149050.3	WXS	Illumina GAIIx	Phase_I					1	203	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.203C>G	CCDS45673.1	1292|1292	0.5915750915750916|0.5915750915750916	426|426	0.8658536585365854|0.8658536585365854	216|216	0.5966850828729282|0.5966850828729282	219|219	0.38286713286713286|0.38286713286713286	431|431	0.5686015831134564|0.5686015831134564	g|.	0.004|0.004	-2.356434|-2.356434	0.00217|0.00217	.|.	.|.	ENSG00000212722|ENSG00000240871	ENST00000377734|ENST00000391417	.|T	.|0.01215	.|5.16	3.78|3.78	-3.84|-3.84	0.04256|0.04256	.|.	.|4.898520	.|0.00659	.|N	.|0.000582	.|T	.|0.00012	.|0.0000	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	.|T	.|0.26710	.|-1.0095	.|8	.|0.02654	.|T	.|1	.|.	3.9478|3.9478	0.09355|0.09355	0.1799:0.497:0.1974:0.1257|0.1799:0.497:0.1974:0.1257	rs11650484|rs11650484	.|68	.|Q9BYR0	.|KRA47_HUMAN	.|S	-1|68	.|ENSP00000375236:T68S	.|ENSP00000375236:T68S	.|T	+|+	.|2	.|0	KRTAP4-9|KRTAP4-7	36494187|36494187	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.039000|0.039000	0.13416|0.13416	-2.567000|-2.567000	0.00916|0.00916	-0.884000|-0.884000	0.03976|0.03976	-0.383000|-0.383000	0.06682|0.06682	.|ACC		0.657	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			4	72	0	0	0	1	0	4	72					G	39240661	C	G	39240661	3	3	39	1	0	0	0	0	1	0	0	0	8564	507	18	5	205	5	KRTAP4-7	17	39240661	Missense_Mutation	SNP	C	TCGA-NA-A4QV-01A-11D-A28R-08	6277624	39240661	41954549	44	3838										
DTNA	1837	broad.mit.edu	37	chr18	32409007	32409007	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	cattttatatcatttcagctCggacggtgcttttggtggat	10	7	2	0			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr18:32409007C>T	ENST00000399113.3	+	10	1094				DTNA_ENST00000595022.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000315456.6_Missense_Mutation_p.S366L|DTNA_ENST00000348997.5_Intron|DTNA_ENST00000444659.1_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000269192.7_Intron|DTNA_ENST00000554864.3_Missense_Mutation_p.S363L|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000269190.7_Intron|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000269191.6_Intron|DTNA_ENST00000596745.1_Intron			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha						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						CATTTCAGCTCGGACGGTGCT	0.398																																						ENST00000315456.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1096-1098)tCg>tTg		dystrobrevin, alpha							200	183	189					18																	32409007		1887	4116	6003	SO:0001627	intron_variant	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32409007C>T	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.1094+1367C>T	18.37:g.32409007C>T			Somatic				DTNA_ENST00000399121.5_Intron|DTNA_ENST00000269191.6_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000269190.7_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000399113.3_Intron|DTNA_ENST00000269192.7_Intron|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000554864.3_Missense_Mutation_p.S363L|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000348997.5_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000444659.1_Intron|DTNA_ENST00000601125.1_Intron	p.S366L	NM_001392.4	NP_001383.2	WXS	Illumina GAIIx	Phase_I	Q9Y4J8	DTNA_HUMAN			13	1421	+			366					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.1097C>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157549	0.38119	.	.	ENSG00000134769	ENST00000315456;ENST00000556176	T	0.18338	2.22	5.87	3.78	0.43462	.	.	.	.	.	T	0.13286	0.0322	.	.	.	0.80722	D	1	B;B	0.27853	0.121;0.191	B;B	0.20384	0.019;0.029	T	0.06862	-1.0803	8	0.38643	T	0.18	.	11.1424	0.48411	0.0:0.8287:0.0:0.1713	.	363;366	Q9BS59;Q9Y4J8-7	.;.	L	366;363	ENSP00000322519:S366L	ENSP00000322519:S366L	S	+	2	0	DTNA	30663005	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	0.010000	0.13242	1.516000	0.48900	0.650000	0.86243	TCG		0.398	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		23	28	0	0	0	1	0	23	28					T	32409007	C	T	32409007	1	4	39	0	1	0	0	0	0	0	0	0	4790	893	31	1		1	DTNA	18	32409007	Intron	SNP	C	TCGA-NA-A4QV-01A-11D-A28R-08		32409007	45668241	45	3839										
ZNF407	55628	broad.mit.edu	37	chr18	72343750	72343750	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	agtgttcagaagaaaacttgTtgaatgcacattatcttggc	9	6	2	3			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr18:72343750T>A	ENST00000299687.5	+	1	775	c.775T>A	c.(775-777)Ttg>Atg	p.L259M	ZNF407_ENST00000309902.6_Missense_Mutation_p.L259M|ZNF407_ENST00000582337.1_Missense_Mutation_p.L259M|ZNF407_ENST00000577538.1_Missense_Mutation_p.L259M	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	259					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)		AGAAAACTTGTTGAATGCACA	0.413																																						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.(775-777)Ttg>Atg		zinc finger protein 407							124	122	123					18																	72343750		1953	4166	6119	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343750T>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.775T>A	18.37:g.72343750T>A	ENSP00000299687:p.Leu259Met		Somatic				ZNF407_ENST00000309902.6_Missense_Mutation_p.L259M|ZNF407_ENST00000577538.1_Missense_Mutation_p.L259M|ZNF407_ENST00000582337.1_Missense_Mutation_p.L259M	p.L259M	NM_017757.2	NP_060227.2	WXS	Illumina GAIIx	Phase_I	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	775	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	259					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.775T>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.363511	0.61513	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.26223	1.75;1.96	5.3	-0.232	0.13082	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.179643	0.22569	U	0.058375	T	0.52306	0.1726	M	0.90309	3.105	0.32191	N	0.579021	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	T	0.65261	-0.6211	10	0.87932	D	0	.	11.145	0.48426	0.0:0.5373:0.0:0.4627	.	259;259;259	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	M	259	ENSP00000299687:L259M;ENSP00000310359:L259M	ENSP00000299687:L259M	L	+	1	2	ZNF407	70472738	0.001000	0.12720	0.883000	0.34634	0.923000	0.55619	-0.631000	0.05496	2.137000	0.66172	0.533000	0.62120	TTG		0.413	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		39	58	0	0	0	1	0	39	58					A	72343750	T	A	72343750	3	1	39	1	0	0	0	0	1	0	0	0	17902	1722	60	4	777	4	ZNF407	18	72343750	Missense_Mutation	SNP	T	TCGA-NA-A4QV-01A-11D-A28R-08	39934743	72343750	5733498	46	3840										
MAG	4099	broad.mit.edu	37	chr19	35804291	35804291	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	cactcggacctggggaaacgGcccaccaaggacagctacac	11	15	0	0			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr19:35804291G>T	ENST00000392213.3	+	11	1974	c.1815G>T	c.(1813-1815)cgG>cgT	p.R605R	MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Silent_p.R580R	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	605					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)			TGGGGAAACGGCCCACCAAGG	0.642																																						ENST00000392213.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1813-1815)cgG>cgT		myelin associated glycoprotein							83	72	76					19																	35804291		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.chr19:35804291G>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.1815G>T	19.37:g.35804291G>T			Somatic				MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Silent_p.R580R	p.R605R	NM_002361.3	NP_002352.1	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)		11	1974	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	605					B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.1815G>T	CCDS12455.1																																																																																				0.642	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		105	72	1	0	1.21621e-70	1	1.38995e-70	105	72					T	35804291	G	T	35804291	2	4	39	1	0	0	0	0	0	0	0	1	9171	1190	42	5		5	MAG	19	35804291	Silent	SNP	G	TCGA-NA-A4QV-01A-11D-A28R-08		35804291	23324692	47	3841										
SIPA1L3	23094	broad.mit.edu	37	chr19	38633333	38633333	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	tcggccacctacgtgagataCaagccatccccagaaaggtc	9	14	0	2			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr19:38633333C>G	ENST00000222345.6	+	12	4025	c.3516C>G	c.(3514-3516)taC>taG	p.Y1172*		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1172					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)			ACGTGAGATACAAGCCATCCC	0.567											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(3514-3516)taC>taG		signal-induced proliferation-associated 1 like 3							155	150	151					19																	38633333		2203	4300	6503	SO:0001587	stop_gained	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38633333C>G	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.3516C>G	19.37:g.38633333C>G	ENSP00000222345:p.Tyr1172*		Somatic	OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	879		p.Y1172*	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)		12	4025	+			1172					Q2TV87	Nonsense_Mutation	SNP	ENST00000222345.6	37	c.3516C>G	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	46	12.789490	0.99696	.	.	ENSG00000105738	ENST00000222345	.	.	.	5.06	5.06	0.68205	.	0.777035	0.12013	N	0.507646	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.6971	11.4418	0.50100	0.0:0.9135:0.0:0.0865	.	.	.	.	X	1172	.	ENSP00000222345:Y1172X	Y	+	3	2	SIPA1L3	43325173	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.375000	0.44283	2.622000	0.88805	0.563000	0.77884	TAC		0.567	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		322	248	0	0	0	1	0	322	248					G	38633333	C	G	38633333	4	3	39	1	0	0	0	0	0	1	0	0	14346	489	17	5	3554	5	SIPA1L3	19	38633333	Nonsense_Mutation	SNP	C	TCGA-NA-A4QV-01A-11D-A28R-08	2829042	38633333	20495650	48	3842										
MEGF8	1954	broad.mit.edu	37	chr19	42880633	42880633	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	gggccctggggacccatgggAgggggctgctgcccaccagc	18	14	0	0			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr19:42880633A>G	ENST00000251268.6	+	42	8244	c.8244A>G	c.(8242-8244)ggA>ggG	p.G2748G	MEGF8_ENST00000334370.4_Silent_p.G2681G|MEGF8_ENST00000378073.4_Silent_p.G342G	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2748	Gly-rich.				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)				GACCCATGGGAGGGGGCTGCT	0.721																																						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.(8041-8043)ggA>ggG		multiple EGF-like-domains 8							6	7	7					19																	42880633		2127	4152	6279	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42880633A>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.8244A>G	19.37:g.42880633A>G			Somatic				MEGF8_ENST00000378073.4_Silent_p.G342G|MEGF8_ENST00000251268.6_Silent_p.G2748G	p.G2681G	NM_001410.2	NP_001401.2	WXS	Illumina GAIIx	Phase_I	Q7Z7M0	MEGF8_HUMAN			41	8678	+		Prostate(69;0.00682)	2748					A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.8043A>G																																																																																					0.721	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		5	8	0	0	0	1	0	5	8					G	42880633	A	G	42880633	2	3	39	1	0	0	0	0	0	0	0	1	9472	291	11	4		4	MEGF8	19	42880633	Silent	SNP	A	TCGA-NA-A4QV-01A-11D-A28R-08	4247300	42880633	16248350	49	3843										
WFDC8	90199	broad.mit.edu	37	chr20	44180764	44180764	+	Frame_Shift_Del	DEL	G	G	-													0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	cacttgggtttatcaatcttGgtacatagcaagggcttgcg							TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr20:44180764delG	ENST00000357199.4	-	6	705	c.627delC	c.(625-627)accfs	p.T209fs	WFDC8_ENST00000289953.2_Frame_Shift_Del_p.T209fs	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	209	WAP 3. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TATCAATCTTGGTACATAGCA	0.433																																						ENST00000357199.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(625-627)acfs		WAP four-disulfide core domain 8							133	115	121					20																	44180764		2203	4300	6503	SO:0001589	frameshift_variant	90199					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44180764delG	AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"WAP four-disulfide core domain containing"	16163	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 170"	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.627delC	20.37:g.44180764delG	ENSP00000361735:p.Thr209fs		Somatic				WFDC8_ENST00000289953.2_Frame_Shift_Del_p.T209fs	p.T209fs	NM_181510.2	NP_852611.2	WXS	Illumina GAIIx	Phase_I	Q8IUA0	WFDC8_HUMAN			6	705	-		Myeloproliferative disorder(115;0.0122)	209			WAP 3.		E1P623|Q5TDV2|Q96A34	Frame_Shift_Del	DEL	ENST00000357199.4	37	c.627delC	CCDS13361.1																																																																																				0.433	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106958.1			56	68						56	68	---	---	---	---	-	44180764	G	-	44180764	7	5	39	1	0	1	0	1	0	0	0	0	17371	1335	47	0	102	0	WFDC8	20	44180764	Frame_Shift_Del	DEL	G	TCGA-NA-A4QV-01A-11D-A28R-08		44180764	18844756	50	3844										
SYCP2	10388	broad.mit.edu	37	chr20	58489052	58489052	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	tcttttgtctccaagcatgcCatttacaaggttgagaaata	7	8	2	1			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr20:58489052C>A	ENST00000357552.3	-	12	1033	c.808G>T	c.(808-810)Ggc>Tgc	p.G270C	SYCP2_ENST00000371001.2_Missense_Mutation_p.G270C			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	270					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)			CCAAGCATGCCATTTACAAGG	0.299																																						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.(808-810)Ggc>Tgc		synaptonemal complex protein 2							62	60	61					20																	58489052		2201	4298	6499	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58489052C>A	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.808G>T	20.37:g.58489052C>A	ENSP00000350162:p.Gly270Cys		Somatic				SYCP2_ENST00000371001.2_Missense_Mutation_p.G270C	p.G270C			WXS	Illumina GAIIx	Phase_I	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		12	1033	-	all_lung(29;0.00344)		270					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.808G>T	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.666143	0.67814	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.04917	3.53;3.53;3.53	4.91	3.95	0.45737	.	0.201678	0.35013	N	0.003506	T	0.20740	0.0499	M	0.63428	1.95	0.40567	D	0.981269	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.00482	-1.1713	10	0.87932	D	0	-7.5976	12.9548	0.58421	0.0:0.9214:0.0:0.0786	.	270;270	A2A341;Q9BX26	.;SYCP2_HUMAN	C	270	ENSP00000360040:G270C;ENSP00000350162:G270C;ENSP00000402456:G270C	ENSP00000350162:G270C	G	-	1	0	SYCP2	57922447	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.799000	0.62517	2.430000	0.82344	0.655000	0.94253	GGC		0.299	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		10	10	1	0	2.74318e-10	1	2.90454e-10	10	10					A	58489052	C	A	58489052	3	1	39	1	0	0	0	0	1	0	0	0	15447	594	21	5	3920	5	SYCP2	20	58489052	Missense_Mutation	SNP	C	TCGA-NA-A4QV-01A-11D-A28R-08	14308288	58489052	4536468	51	3845										
GABPA	2551	broad.mit.edu	37	chr21	27141432	27141432	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	gcggagttgaaccgtttggtCacagaatgtgaacagaagaa	13	6	1	5			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr21:27141432C>T	ENST00000354828.3	+	10	1781	c.1254C>T	c.(1252-1254)gtC>gtT	p.V418V	GABPA_ENST00000400075.3_Silent_p.V418V	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	418					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	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 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)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						ACCGTTTGGTCACAGAATGTG	0.443																																						ENST00000354828.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						c.(1252-1254)gtC>gtT		GA binding protein transcription factor, alpha subunit 60kDa							72	75	74					21																	27141432		2203	4300	6503	SO:0001819	synonymous_variant	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27141432C>T		CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"human nuclear respiratory factor-2 subunit alpha", "nuclear respiratory factor 2 alpha subunit"	600609	"GA-binding protein transcription factor, alpha subunit (60kD)"			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.1254C>T	21.37:g.27141432C>T			Somatic				GABPA_ENST00000400075.3_Silent_p.V418V	p.V418V	NM_001197297.1	NP_001184226.1	WXS	Illumina GAIIx	Phase_I	Q06546	GABPA_HUMAN			10	1781	+			418					Q12939	Silent	SNP	ENST00000354828.3	37	c.1254C>T	CCDS13575.1																																																																																				0.443	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		35	114	0	0	0	1	0	35	114					T	27141432	C	T	27141432	2	4	39	1	0	0	0	0	0	0	0	1	6165	813	29	3		3	GABPA	21	27141432	Silent	SNP	C	TCGA-NA-A4QV-01A-11D-A28R-08		27141432	20988463	52	3846										
LSS	4047	broad.mit.edu	37	chr21	47614430	47614430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	ggccatcagccccatcatggCccagcatgtgttatggatct	10	13	3	0			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr21:47614430C>T	ENST00000397728.3	-	20	2041	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T	AP001468.1_ENST00000594486.1_5'Flank|LSS_ENST00000457828.2_Missense_Mutation_p.A575T|LSS_ENST00000356396.4_Missense_Mutation_p.A655T|LSS_ENST00000522411.1_Missense_Mutation_p.A644T	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	655					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)					CCCATCATGGCCCAGCATGTG	0.637																																					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.(1963-1965)Gcc>Acc		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)							95	75	82					21																	47614430		2203	4300	6503	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47614430C>T	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1963G>A	21.37:g.47614430C>T	ENSP00000380837:p.Ala655Thr		Somatic				LSS_ENST00000522411.1_Missense_Mutation_p.A644T|LSS_ENST00000457828.2_Missense_Mutation_p.A575T|LSS_ENST00000356396.4_Missense_Mutation_p.A655T	p.A655T	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	WXS	Illumina GAIIx	Phase_I	P48449	ERG7_HUMAN			20	2041	-	Breast(49;0.214)		655					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.1963G>A	CCDS13733.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.737106|4.737106	0.89482|0.89482	.|.	.|.	ENSG00000160285|ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411|ENST00000419093	T;T;T;T|.	0.34275|.	1.37;1.37;1.37;1.37|.	5.07|5.07	5.07|5.07	0.68467|0.68467	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);|.	0.049874|.	0.85682|.	D|.	0.000000|.	D|D	0.86818|0.86818	0.6024|0.6024	M|M	0.93283|0.93283	3.4|3.4	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.71656|.	0.955;0.974|.	D|D	0.90308|0.90308	0.4335|0.4335	10|5	0.62326|.	D|.	0.03|.	.|.	18.4342|18.4342	0.90638|0.90638	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	644;655|.	E9PEI9;P48449|.	.;ERG7_HUMAN|.	T|D	655;575;655;644|22	ENSP00000348762:A655T;ENSP00000409191:A575T;ENSP00000380837:A655T;ENSP00000429133:A644T|.	ENSP00000348762:A655T|.	A|G	-|-	1|2	0|0	LSS|LSS	46438858|46438858	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.405000|0.405000	0.30901|0.30901	7.201000|7.201000	0.77847|0.77847	2.523000|2.523000	0.85059|0.85059	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.637	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			22	31	0	0	0	1	0	22	31					T	47614430	C	T	47614430	3	4	39	1	0	0	0	0	1	0	0	0	9074	739	26	3	247	3	LSS	21	47614430	Missense_Mutation	SNP	C	TCGA-NA-A4QV-01A-11D-A28R-08	20472998	47614430	515465	53	3847										
TBC1D25	4943	broad.mit.edu	37	chrX	48418348	48418348	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	catggaccatgagggccatgCctttgtttgcttttgtggca	12	9	0	1			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chrX:48418348C>A	ENST00000376771.4	+	6	1393	c.1052C>A	c.(1051-1053)gCc>gAc	p.A351D	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.A97D	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	351	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)	p.A351G(1)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GAGGGCCATGCCTTTGTTTGC	0.582																																						ENST00000376771.4																			1	Substitution - Missense(1)	p.A351G(1)	breast(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1051-1053)gCc>gAc		TBC1 domain family, member 25							48	32	38					X																	48418348		2203	4300	6503	SO:0001583	missense	4943					intracellular	Rab GTPase activator activity	g.chrX:48418348C>A	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1052C>A	X.37:g.48418348C>A	ENSP00000365962:p.Ala351Asp		Somatic				TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_Missense_Mutation_p.A97D	p.A351D	NM_002536.2	NP_002527.1	WXS	Illumina GAIIx	Phase_I	Q3MII6	TBC25_HUMAN			6	1393	+			351			Rab-GAP TBC.		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	c.1052C>A	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319938	0.81469	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.10192	2.9;2.9	5.78	5.78	0.91487	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.48114	0.1482	H	0.96301	3.8	0.58432	D	0.999999	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.988;0.988;0.996	T	0.64651	-0.6357	10	0.87932	D	0	-3.8717	16.2818	0.82694	0.0:1.0:0.0:0.0	.	355;293;351	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	D	351;97	ENSP00000365962:A351D;ENSP00000444091:A97D	ENSP00000365962:A351D	A	+	2	0	TBC1D25	48303292	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.215000	0.77966	2.449000	0.82847	0.523000	0.50628	GCC		0.582	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		27	10	1	0	9.86323e-18	1	1.10961e-17	27	10					A	48418348	C	A	48418348	3	1	39	1	0	0	0	0	1	0	0	0	15630	739	26	5	1074	5	TBC1D25	23	48418348	Missense_Mutation	SNP	C	TCGA-NA-A4QV-01A-11D-A28R-08		48418348	106852212	54	3848										
HCFC1	3054	broad.mit.edu	37	chrX	153230117	153230117	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.145454545454545	8	0.396754940234723	2.10826771653543	4.21653543307087	1.14996420901933	0.619269619269619	1	0	tcccgtcacacacgaagccaTaggctgcacacccaggggga	11	15	1	0			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chrX:153230117T>C	ENST00000310441.7	-	2	1220	c.254A>G	c.(253-255)tAt>tGt	p.Y85C	HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.Y85C|HCFC1_ENST00000369984.4_Missense_Mutation_p.Y85C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	85					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)					CACGAAGCCATAGGCTGCACA	0.582											OREG0003629	type=REGULATORY REGION|Gene=HCFC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										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.(253-255)tAt>tGt		host cell factor C1 (VP16-accessory protein)							95	105	102					X																	153230117		2148	4221	6369	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:153230117T>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.254A>G	X.37:g.153230117T>C	ENSP00000309555:p.Tyr85Cys		Somatic	OREG0003629	type=REGULATORY REGION|Gene=HCFC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1754	HCFC1_ENST00000354233.3_Missense_Mutation_p.Y85C|HCFC1_ENST00000369984.4_Missense_Mutation_p.Y85C	p.Y85C	NM_005334.2	NP_005325.2	WXS	Illumina GAIIx	Phase_I	P51610	HCFC1_HUMAN			2	1220	-	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)		85					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.254A>G	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367831	0.82463	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.66099	-0.18;-0.18;-0.19	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.72716	0.3495	L	0.47716	1.5	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.75584	-0.3267	10	0.87932	D	0	.	13.4587	0.61214	0.0:0.0:0.0:1.0	.	85	P51610	HCFC1_HUMAN	C	85	ENSP00000309555:Y85C;ENSP00000359001:Y85C;ENSP00000346174:Y85C	ENSP00000309555:Y85C	Y	-	2	0	HCFC1	152883311	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.607000	0.82883	1.821000	0.53095	0.381000	0.24937	TAT		0.582	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		60	17	0	0	0	1	0	60	17					C	153230117	T	C	153230117	3	2	39	1	0	0	0	0	1	0	0	0	7000	1406	49	4	5953	4	HCFC1	23	153230117	Missense_Mutation	SNP	T	TCGA-NA-A4QV-01A-11D-A28R-08	104811769	153230117	2040443	55	3849										
UBR4	23352	broad.mit.edu	37	chr1	19493718	19493718	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	ctgtggtgggttcatctcatCtgaccaacttcagcaaagaa	9	10	4	2			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:19493718C>G	ENST00000375254.3	-	29	3934	c.3907G>C	c.(3907-3909)Gat>Cat	p.D1303H	UBR4_ENST00000375226.2_Missense_Mutation_p.D1303H|UBR4_ENST00000375267.2_Missense_Mutation_p.D1303H|UBR4_ENST00000375217.2_Missense_Mutation_p.D1303H	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1303					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)		TTCATCTCATCTGACCAACTT	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.(3907-3909)Gat>Cat		ubiquitin protein ligase E3 component n-recognin 4							86	85	86					1																	19493718		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.chr1:19493718C>G	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.3907G>C	1.37:g.19493718C>G	ENSP00000364403:p.Asp1303His		Somatic				UBR4_ENST00000375254.3_Missense_Mutation_p.D1303H|UBR4_ENST00000375217.2_Missense_Mutation_p.D1303H|UBR4_ENST00000375226.2_Missense_Mutation_p.D1303H	p.D1303H			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	3910	-		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)	1303					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.3907G>C	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359690	0.82353	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.86	5.86	0.93980	.	0.108688	0.64402	D	0.000007	T	0.64649	0.2617	N	0.14661	0.345	0.80722	D	1	P	0.45348	0.856	P	0.51582	0.674	T	0.67448	-0.5668	10	0.52906	T	0.07	.	19.7902	0.96453	0.0:1.0:0.0:0.0	.	1303	Q5T4S7	UBR4_HUMAN	H	1303;1303;1303;1303;13;519	ENSP00000364403:D1303H;ENSP00000364416:D1303H;ENSP00000364365:D1303H;ENSP00000364374:D1303H	ENSP00000364365:D1303H	D	-	1	0	UBR4	19366305	1.000000	0.71417	0.992000	0.48379	0.817000	0.46193	7.424000	0.80242	2.780000	0.95670	0.585000	0.79938	GAT		0.458	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		20	26	0	0	0	1	0	20	26					G	19493718	C	G	19493718	3	3	40	1	0	0	0	0	1	0	0	0	16919	913	32	2	11956	2	UBR4	1	19493718	Missense_Mutation	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08		19493718	229756903	1	3850										
GBP5	115362	broad.mit.edu	37	chr1	89730615	89730615	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	ggcagatccccactgctgatGgcattgacataggtcagcac	11	12	1	3			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:89730615G>A	ENST00000370459.3	-	7	1030	c.903C>T	c.(901-903)gcC>gcT	p.A301A	GBP5_ENST00000471171.1_5'Flank|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Silent_p.A301A			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	301	GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CACTGCTGATGGCATTGACAT	0.443																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(901-903)gcC>gcT		guanylate binding protein 5							91	82	85					1																	89730615		2203	4300	6503	SO:0001819	synonymous_variant	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89730615G>A	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.903C>T	1.37:g.89730615G>A			Somatic				GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Silent_p.A301A	p.A301A	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	WXS	Illumina GAIIx	Phase_I	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	8	1439	-			301					B2RCE1|Q86TM5	Silent	SNP	ENST00000370459.3	37	c.903C>T	CCDS722.1																																																																																				0.443	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		23	42	0	0	0	1	0	23	42					A	89730615	G	A	89730615	2	1	40	1	0	0	0	0	0	0	0	1	6285	1335	47	3		3	GBP5	1	89730615	Silent	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	70236897	89730615	159520006	2	3851										
HIPK1	204851	broad.mit.edu	37	chr1	114483989	114483989	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	atgctggttgatccagttcgCcagccctaccgagtgaaggt	12	11	0	2			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:114483989C>A	ENST00000369558.1	+	2	1216	c.984C>A	c.(982-984)cgC>cgA	p.R328R	HIPK1_ENST00000369561.4_Silent_p.R328R|HIPK1_ENST00000426820.2_Silent_p.R328R|HIPK1_ENST00000369555.2_Silent_p.R328R|HIPK1_ENST00000369559.4_Silent_p.R328R|HIPK1_ENST00000369554.2_Silent_p.R328R			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	328	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)		ATCCAGTTCGCCAGCCCTACC	0.502																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(982-984)cgC>cgA		homeodomain interacting protein kinase 1							155	144	147					1																	114483989		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.chr1:114483989C>A	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.984C>A	1.37:g.114483989C>A			Somatic				HIPK1_ENST00000426820.2_Silent_p.R328R|HIPK1_ENST00000369555.2_Silent_p.R328R|HIPK1_ENST00000369554.2_Silent_p.R328R|HIPK1_ENST00000369559.4_Silent_p.R328R|HIPK1_ENST00000369561.4_Silent_p.R328R	p.R328R			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	1216	+	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)	328			Protein kinase.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	c.984C>A	CCDS867.1																																																																																				0.502	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		21	100	1	0	9.57634e-11	1	9.95939e-11	21	100					A	114483989	C	A	114483989	2	1	40	1	0	0	0	0	0	0	0	1	7125	726	26	5		5	HIPK1	1	114483989	Silent	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08	24753374	114483989	134766632	3	3852										
NBPF15	284565	broad.mit.edu	37	chr1	148594544	148594544	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	tactcatttgaggaagagcaTatcagcttcgccctttacgt	8	10	2	2			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:148594544T>C	ENST00000369187.3	+	19	2406	c.1917T>C	c.(1915-1917)caT>caC	p.H639H	NBPF15_ENST00000442702.2_Silent_p.H639H	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	639	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)					AGGAAGAGCATATCAGCTTCG	0.433																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1915-1917)caT>caC		neuroblastoma breakpoint family, member 15							149	202	185					1																	148594544		2174	4293	6467	SO:0001819	synonymous_variant	284565					cytoplasm		g.chr1:148594544T>C	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.1917T>C	1.37:g.148594544T>C			Somatic				NBPF15_ENST00000369187.3_Silent_p.H639H	p.H639H	NM_001170755.1	NP_001164226.1	WXS	Illumina GAIIx	Phase_I	Q8N660	NBPFF_HUMAN			21	2984	+	all_hematologic(923;0.032)		639			NBPF 6.		Q3BBV9|Q8IX77	Silent	SNP	ENST00000369187.3	37	c.1917T>C	CCDS932.1																																																																																				0.433	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		5	242	0	0	0	1	0	5	242					C	148594544	T	C	148594544	2	2	40	1	0	0	0	0	0	0	0	1	10204	1403	49	4		4	NBPF15	1	148594544	Silent	SNP	T	TCGA-NA-A4QW-01A-11D-A28R-08	34110555	148594544	100656077	4	3853										
OTUD7B	56957	broad.mit.edu	37	chr1	149916917	149916917	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	gactcaggagtggaccggggCtcatctccagctgaggcggt	16	11	3	1			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:149916917C>A	ENST00000369135.4	-	12	1665	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	457					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TGGACCGGGGCTCATCTCCAG	0.622																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1369-1371)gaG>gaT		OTU domain containing 7B							55	57	56					1																	149916917		2021	4184	6205	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149916917C>A	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1371G>T	1.37:g.149916917C>A	ENSP00000358131:p.Glu457Asp		Somatic					p.E457D	NM_020205.2	NP_064590.2	WXS	Illumina GAIIx	Phase_I	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	1665	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		457					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.1371G>T	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	0.257	-1.002223	0.02128	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.27256	1.68	4.99	-0.569	0.11756	.	0.099701	0.64402	D	0.000003	T	0.01254	0.0041	N	0.00599	-1.345	0.37012	D	0.89577	B	0.06786	0.001	B	0.10450	0.005	T	0.31668	-0.9935	9	.	.	.	-8.6787	0.5221	0.00614	0.3492:0.1942:0.1181:0.3385	.	457	Q6GQQ9	OTU7B_HUMAN	D	457	ENSP00000358131:E457D	.	E	-	3	2	OTUD7B	148183541	0.967000	0.33354	0.998000	0.56505	0.968000	0.65278	0.134000	0.15932	0.025000	0.15241	-0.321000	0.08615	GAG		0.622	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		28	45	1	0	1.42536e-11	1	1.5024e-11	28	45					A	149916917	C	A	149916917	3	1	40	1	0	0	0	0	1	0	0	0	11328	796	28	5	1164	5	OTUD7B	1	149916917	Missense_Mutation	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08	1322373	149916917	99333704	5	3854										
CR1	1378	broad.mit.edu	37	chr1	207751246	207751246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	atcagtggtgacctaccgctGcaatcttggaagcagaggga	13	9	2	2			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:207751246G>A	ENST00000367049.4	+	29	4634	c.4634G>A	c.(4633-4635)tGc>tAc	p.C1545Y	CR1_ENST00000367051.1_Missense_Mutation_p.C1095Y|CR1_ENST00000400960.2_Missense_Mutation_p.C1095Y|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.C1095Y|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.C1095Y	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1095	Sushi 24. {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						ACCTACCGCTGCAATCTTGGA	0.522																																						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.(4633-4635)tGc>tAc		complement component (3b/4b) receptor 1 (Knops blood group)							177	169	172					1																	207751246		1896	4123	6019	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207751246G>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.4634G>A	1.37:g.207751246G>A	ENSP00000356016:p.Cys1545Tyr		Somatic				CR1_ENST00000367052.1_Missense_Mutation_p.C1095Y|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.C1095Y|CR1_ENST00000367053.1_Missense_Mutation_p.C1095Y|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.C1095Y	p.C1545Y	NM_000651.4	NP_000642.3	WXS	Illumina GAIIx	Phase_I	P17927	CR1_HUMAN			29	4634	+			1095			Sushi 24.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.4634G>A	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653428	0.47362	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	3.5	3.5	0.40072	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.99878	0.9942	H	0.99565	4.63	0.09310	N	0.999992	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.997;0.967;0.998	D	0.99053	1.0828	9	0.48119	T	0.1	.	11.2287	0.48899	0.0:0.0:1.0:0.0	.	1095;1095;1545	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	Y	1095;1095;1095;1095;645;1545	ENSP00000356019:C1095Y;ENSP00000356018:C1095Y;ENSP00000356020:C1095Y;ENSP00000383744:C1095Y;ENSP00000436139:C645Y;ENSP00000356016:C1545Y	ENSP00000356016:C1545Y	C	+	2	0	CR1	205817869	0.982000	0.34865	0.174000	0.22961	0.188000	0.23474	4.653000	0.61462	1.899000	0.54978	0.585000	0.79938	TGC		0.522	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		8	223	0	0	0	1	0	8	223					A	207751246	G	A	207751246	3	1	40	1	0	0	0	0	1	0	0	0	3842	1319	46	3	4748	3	CR1	1	207751246	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	57834329	207751246	41499375	6	3855										
ITPKB	3707	broad.mit.edu	37	chr1	226827357	226827357	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	cggttcacggtgccgtcttcTttctgagaaagagaacaccc	10	12	4	2	rs552071294		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:226827357T>C	ENST00000272117.3	-	5	2453	c.2454A>G	c.(2452-2454)aaA>aaG	p.K818K	ITPKB_ENST00000429204.1_Silent_p.K818K			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	818					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)				TGCCGTCTTCTTTCTGAGAAA	0.567																																					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.(2452-2454)aaA>aaG		inositol-trisphosphate 3-kinase B							106	99	101					1																	226827357		2203	4300	6503	SO:0001819	synonymous_variant	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226827357T>C	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.2454A>G	1.37:g.226827357T>C			Somatic				ITPKB_ENST00000272117.3_Silent_p.K818K	p.K818K	NM_002221.3	NP_002212.3	WXS	Illumina GAIIx	Phase_I	P27987	IP3KB_HUMAN			6	2781	-		Prostate(94;0.0773)	818					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	c.2454A>G	CCDS1555.1																																																																																				0.567	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		18	37	0	0	0	1	0	18	37					C	226827357	T	C	226827357	2	2	40	1	0	0	0	0	0	0	0	1	7927	1606	56	4		4	ITPKB	1	226827357	Silent	SNP	T	TCGA-NA-A4QW-01A-11D-A28R-08	19076111	226827357	22423264	7	3856										
OR2G6	391211	broad.mit.edu	37	chr1	248685017	248685017	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	tttcagatcagcctcagctaGagaggtttctttttgccatc	8	10	4	2			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:248685017G>A	ENST00000343414.4	+	1	102	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, 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)			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)			GCCTCAGCTAGAGAGGTTTCT	0.463																																						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.(70-72)Gag>Aag		olfactory receptor, family 2, subfamily G, member 6							180	166	171					1																	248685017		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685017G>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.70G>A	1.37:g.248685017G>A	ENSP00000341291:p.Glu24Lys		Somatic					p.E24K	NM_001013355.1	NP_001013373.1	WXS	Illumina GAIIx	Phase_I	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	102	+	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)	24					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.70G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	-	14.99	2.700872	0.48307	.	.	ENSG00000188558	ENST00000343414	T	0.00297	8.23	3.83	0.537	0.17144	.	0.000000	0.44483	U	0.000443	T	0.00241	0.0007	L	0.53561	1.675	0.09310	N	1	P	0.49635	0.926	P	0.45138	0.471	T	0.50583	-0.8811	10	0.87932	D	0	.	5.9193	0.19073	0.1948:0.4473:0.3579:0.0	.	24	Q5TZ20	OR2G6_HUMAN	K	24	ENSP00000341291:E24K	ENSP00000341291:E24K	E	+	1	0	OR2G6	246751640	0.000000	0.05858	0.002000	0.10522	0.663000	0.39108	-0.110000	0.10824	0.275000	0.22094	0.400000	0.26472	GAG		0.463	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		53	45	0	0	0	1	0	53	45					A	248685017	G	A	248685017	3	1	40	1	0	0	0	0	1	0	0	0	11009	943	33	3	72	3	OR2G6	1	248685017	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	21857660	248685017	565604	8	3857										
DPP10	57628	broad.mit.edu	37	chr2	116572463	116572463	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	ataatgtcattgtagcaagaTttgatggcagaggaagtgga	13	3	1	3			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr2:116572463T>A	ENST00000410059.1	+	20	2275	c.1795T>A	c.(1795-1797)Ttt>Att	p.F599I	DPP10_ENST00000409163.1_Missense_Mutation_p.F549I|DPP10_ENST00000393147.2_Missense_Mutation_p.F603I|DPP10_ENST00000310323.8_Missense_Mutation_p.F592I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	599						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.F592I(1)|p.F599I(1)		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						TGTAGCAAGATTTGATGGCAG	0.423																																						ENST00000410059.1																			2	Substitution - Missense(2)	p.F592I(1)|p.F599I(1)	kidney(2)	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.(1795-1797)Ttt>Att		dipeptidyl-peptidase 10 (non-functional)							137	135	135					2																	116572463		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116572463T>A	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.1795T>A	2.37:g.116572463T>A	ENSP00000386565:p.Phe599Ile		Somatic				DPP10_ENST00000393147.2_Missense_Mutation_p.F603I|DPP10_ENST00000310323.8_Missense_Mutation_p.F592I|DPP10_ENST00000409163.1_Missense_Mutation_p.F549I	p.F599I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	WXS	Illumina GAIIx	Phase_I	Q8N608	DPP10_HUMAN			20	2275	+			599					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1795T>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.091721	0.36952	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.16	5.16	0.70880	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.059528	0.64402	D	0.000002	T	0.18509	0.0444	N	0.01789	-0.72	0.46981	D	0.999277	B;B;B;B	0.25772	0.081;0.134;0.099;0.099	B;B;B;B	0.25140	0.034;0.047;0.058;0.058	T	0.15321	-1.0441	10	0.13853	T	0.58	-15.1092	14.3232	0.66502	0.0:0.0:0.0:1.0	.	592;603;595;599	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	I	599;549;603;592;549	ENSP00000386565:F599I;ENSP00000387038:F549I;ENSP00000376855:F603I;ENSP00000309066:F592I	ENSP00000309066:F592I	F	+	1	0	DPP10	116288933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.800000	0.38833	2.182000	0.69389	0.533000	0.62120	TTT		0.423	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		33	117	0	0	0	1	0	33	117					A	116572463	T	A	116572463	3	1	40	1	0	0	0	0	1	0	0	0	4729	1493	52	4	2044	4	DPP10	2	116572463	Missense_Mutation	SNP	T	TCGA-NA-A4QW-01A-11D-A28R-08		116572463	126626910	9	3858										
SPHKAP	80309	broad.mit.edu	37	chr2	228860403	228860403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	tggtacatctctggtatcaaGgctgtcactgtagagggcaa	12	8	3	1			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr2:228860403G>A	ENST00000392056.3	-	8	4502	c.4456C>T	c.(4456-4458)Ctt>Ttt	p.L1486F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1486F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1486						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)		CTGGTATCAAGGCTGTCACTG	0.532																																						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.(4456-4458)Ctt>Ttt		SPHK1 interactor, AKAP domain containing							43	45	45					2																	228860403		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228860403G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4456C>T	2.37:g.228860403G>A	ENSP00000375909:p.Leu1486Phe		Somatic				SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1486F	p.L1486F	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	4502	-		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)	1486					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4456C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	2.479	-0.320013	0.05386	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13901	2.55;2.55	6.06	2.89	0.33648	.	0.555420	0.19223	N	0.119620	T	0.08758	0.0217	L	0.28400	0.85	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.003;0.004	T	0.26643	-1.0097	10	0.32370	T	0.25	.	5.4658	0.16642	0.25:0.0:0.5968:0.1532	.	1486;1486	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	F	1486	ENSP00000375909:L1486F;ENSP00000339886:L1486F	ENSP00000339886:L1486F	L	-	1	0	SPHKAP	228568647	0.000000	0.05858	0.323000	0.25347	0.082000	0.17680	0.297000	0.19101	0.897000	0.36392	-0.137000	0.14449	CTT		0.532	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		7	46	0	0	0	1	0	7	46					A	228860403	G	A	228860403	3	1	40	1	0	0	0	0	1	0	0	0	15063	1000	35	3	666	3	SPHKAP	2	228860403	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	112287940	228860403	14338970	10	3859										
ZNF654	55279	broad.mit.edu	37	chr3	88189976	88189976	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	catacgtcagaccattgcctCccagttaccttgatgaacgg	8	13	1	3			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr3:88189976C>T	ENST00000309495.5	+	1	1723	c.1516C>T	c.(1516-1518)Ccc>Tcc	p.P506S	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	506					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		ACCATTGCCTCCCAGTTACCT	0.393																																						ENST00000309495.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12						c.(1516-1518)Ccc>Tcc		zinc finger protein 654							136	124	128					3																	88189976		1865	4111	5976	SO:0001583	missense	55279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:88189976C>T	AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.1516C>T	3.37:g.88189976C>T	ENSP00000312141:p.Pro506Ser		Somatic				CGGBP1_ENST00000462901.1_Intron	p.P506S	NM_018293.2	NP_060763.2	WXS	Illumina GAIIx	Phase_I	Q8IZM8	ZN654_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	1	1723	+		Lung NSC(201;0.0283)	506					Q9H791|Q9NV14	Missense_Mutation	SNP	ENST00000309495.5	37	c.1516C>T	CCDS46874.1	.	.	.	.	.	.	.	.	.	.	c	12.65	2.001437	0.35320	.	.	ENSG00000175105	ENST00000309495	T	0.08102	3.13	5.33	5.33	0.75918	.	.	.	.	.	T	0.07098	0.0180	N	0.12746	0.255	0.33318	D	0.56694	P	0.41748	0.761	B	0.40134	0.32	T	0.29640	-1.0005	9	0.34782	T	0.22	.	18.0089	0.89217	0.0:1.0:0.0:0.0	.	506	Q8IZM8	ZN654_HUMAN	S	506	ENSP00000312141:P506S	ENSP00000312141:P506S	P	+	1	0	ZNF654	88272666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.060000	0.49955	2.479000	0.83701	0.574000	0.79327	CCC		0.393	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353285.2	NM_018293		14	58	0	0	0	1	0	14	58					T	88189976	C	T	88189976	3	4	40	1	0	0	0	0	1	0	0	0	18082	855	30	3	1518	3	ZNF654	3	88189976	Missense_Mutation	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08		88189976	109832454	11	3860										
NCK1	4690	broad.mit.edu	37	chr3	136664877	136664877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	ttgaaaaacctgaaaatgacCcagagtggtggaaatgcagg	12	6	0	4			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr3:136664877C>T	ENST00000481752.1	+	3	843	c.679C>T	c.(679-681)Cca>Tca	p.P227S	NCK1_ENST00000469404.1_Missense_Mutation_p.P163S|NCK1_ENST00000288986.2_Missense_Mutation_p.P227S			P16333	NCK1_HUMAN	NCK adaptor protein 1	227	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|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 translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						TGAAAATGACCCAGAGTGGTG	0.378																																						ENST00000469404.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(487-489)Cca>Tca		NCK adaptor protein 1							132	126	128					3																	136664877		2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136664877C>T	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"SH2 domain containing"	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.679C>T	3.37:g.136664877C>T	ENSP00000417273:p.Pro227Ser		Somatic				NCK1_ENST00000288986.2_Missense_Mutation_p.P227S|NCK1_ENST00000481752.1_Missense_Mutation_p.P227S	p.P163S	NM_001190796.1	NP_001177725.1	WXS	Illumina GAIIx	Phase_I	P16333	NCK1_HUMAN			2	578	+			227			SH3 2.		B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.487C>T	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541903	0.65198	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000469404	T;T;T	0.41758	0.99;0.99;0.99	6.16	6.16	0.99307	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.57577	0.2063	L	0.39020	1.185	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.995;0.997	T	0.55515	-0.8129	10	0.66056	D	0.02	-12.9661	18.3537	0.90348	0.0:1.0:0.0:0.0	.	163;227	B7Z751;P16333	.;NCK1_HUMAN	S	227;227;163	ENSP00000288986:P227S;ENSP00000417273:P227S;ENSP00000419631:P163S	ENSP00000288986:P227S	P	+	1	0	NCK1	138147567	1.000000	0.71417	1.000000	0.80357	0.383000	0.30230	7.403000	0.79983	2.937000	0.99478	0.650000	0.86243	CCA		0.378	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		47	47	0	0	0	1	0	47	47					T	136664877	C	T	136664877	3	4	40	1	0	0	0	0	1	0	0	0	10228	623	22	3	685	3	NCK1	3	136664877	Missense_Mutation	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08	48474901	136664877	61357553	12	3861										
TRIML2	205860	broad.mit.edu	37	chr4	189022258	189022258	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	agctcggtggcaagcttgatCgcttgattcagaagggtttc	13	8	1	3	rs141580546		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr4:189022258C>T	ENST00000512729.1	-	3	656	c.282G>A	c.(280-282)gcG>gcA	p.A94A	TRIML2_ENST00000536972.1_Silent_p.A144A|TRIML2_ENST00000326754.3_Silent_p.A94A	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	94					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CAAGCTTGATCGCTTGATTCA	0.433																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(280-282)gcG>gcA		tripartite motif family-like 2		C		0,4406		0,0,2203	131	123	126		282	2.3	0	4	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRIML2	NM_173553.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		94/388	189022258	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	205860						ligase activity	g.chr4:189022258C>T	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.282G>A	4.37:g.189022258C>T			Somatic				TRIML2_ENST00000536972.1_Silent_p.A144A|TRIML2_ENST00000326754.3_Silent_p.A94A	p.A94A	NM_173553.1	NP_775824.1	WXS	Illumina GAIIx	Phase_I	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	3	656	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	94					B7Z6J6	Silent	SNP	ENST00000512729.1	37	c.282G>A	CCDS3850.1																																																																																				0.433	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		10	3	0	0	0	1	0	10	3					T	189022258	C	T	189022258	2	4	40	1	0	0	0	0	0	0	0	1	16566	871	31	1		1	TRIML2	4	189022258	Silent	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08		189022258	2132018	13	3862										
CDH9	1007	broad.mit.edu	37	chr5	26881650	26881650	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	tcatcgttgtaggtcacaatGttgtcccggacatcgtcttt	9	10	3	0			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr5:26881650G>A	ENST00000231021.4	-	12	2137	c.1965C>T	c.(1963-1965)aaC>aaT	p.N655N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	655					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						AGGTCACAATGTTGTCCCGGA	0.413																																					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.(1963-1965)aaC>aaT		cadherin 9, type 2 (T1-cadherin)							135	139	138					5																	26881650		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881650G>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.1965C>T	5.37:g.26881650G>A			Somatic					p.N655N	NM_016279.3	NP_057363.3	WXS	Illumina GAIIx	Phase_I	Q9ULB4	CADH9_HUMAN			12	2137	-			655					Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1965C>T	CCDS3893.1																																																																																				0.413	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		31	93	0	0	0	1	0	31	93					A	26881650	G	A	26881650	2	1	40	1	0	0	0	0	0	0	0	1	3119	1368	48	3		3	CDH9	5	26881650	Silent	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08		26881650	154033610	14	3863										
ZFR	51663	broad.mit.edu	37	chr5	32407014	32407015	+	In_Frame_Ins	INS	-	-	GCA													0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	tccctgtccaggcagctgttINSgcagcagcagcagcagctgc							TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr5:32407014_32407015insGCA	ENST00000265069.8	-	6	998_999	c.896_897insTGC	c.(895-897)gca>gcTGCa	p.299_299A>AA		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	299	Ala-rich.				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)		AGGCAgctgttgcagcagcagc	0.48																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(895-897)gac>gTGCac		zinc finger RNA binding protein																																				SO:0001652	inframe_insertion	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407014_32407015insGCA	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.894_896dupTGC	5.37:g.32407021_32407023dupGCA	ENSP00000265069:p.Ala299dup		Somatic					p.299_299D>VH	NM_016107.3	NP_057191.2	WXS	Illumina GAIIx	Phase_I	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	998_999	-			299			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	In_Frame_Ins	INS	ENST00000265069.8	37	c.896_897insTGC	CCDS34139.1																																																																																				0.48	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			8	53						8	53	---	---	---	---	GCA	32407015	-	GCA	32407014	7	5	40	1	0	1	1	0	0	0	0	0	17674	1799	63	0	2387	0	ZFR	5	32407014	In_Frame_Ins	INS	-	TCGA-NA-A4QW-01A-11D-A28R-08	5525364	32407014	148508246	15	3864										
MCC	4163	broad.mit.edu	37	chr5	112364641	112364641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	agatttttacctgttggcccGctttagatcattcacgaact	7	10	2	2	rs145982424		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr5:112364641G>A	ENST00000302475.4	-	16	2862	c.2299C>T	c.(2299-2301)Cgg>Tgg	p.R767W	MCC_ENST00000515367.2_Missense_Mutation_p.R704W|MCC_ENST00000408903.3_Missense_Mutation_p.R957W|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	767					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CTGTTGGCCCGCTTTAGATCA	0.537																																						ENST00000302475.4																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2299-2301)Cgg>Tgg		mutated in colorectal cancers		G	TRP/ARG,TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	184	187	186		2869,2299	2.5	0.8	5	dbSNP_134	186	0,8600		0,0,4300	no	missense,missense	MCC	NM_001085377.1,NM_002387.2	101,101	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	957/1020,767/830	112364641	1,13003	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.chr5:112364641G>A		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.2299C>T	5.37:g.112364641G>A	ENSP00000305617:p.Arg767Trp		Somatic				MCC_ENST00000515367.2_Missense_Mutation_p.R704W|MCC_ENST00000408903.3_Missense_Mutation_p.R957W|MCC_ENST00000514701.3_5'UTR	p.R767W	NM_002387.2	NP_002378.1	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)	16	2862	-		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)	767					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.2299C>T	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675484	0.47781	2.27E-4	0.0	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.51071	0.72;0.72;0.72	5.63	2.45	0.29901	Usher syndrome type-1C protein-binding protein 1, PDZ domain (1);	0.182062	0.42548	D	0.000695	T	0.59998	0.2235	L	0.47716	1.5	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.62455	-0.6851	10	0.72032	D	0.01	-18.3931	13.3637	0.60671	0.0:0.0:0.3017:0.6983	.	957;767	P23508-2;P23508	.;CRCM_HUMAN	W	767;704;957	ENSP00000305617:R767W;ENSP00000421615:R704W;ENSP00000386227:R957W	ENSP00000305617:R767W	R	-	1	2	MCC	112392540	1.000000	0.71417	0.845000	0.33349	0.164000	0.22412	1.524000	0.35942	0.674000	0.31244	0.591000	0.81541	CGG		0.537	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		12	175	0	0	0	1	0	12	175					A	112364641	G	A	112364641	3	1	40	1	0	0	0	0	1	0	0	0	9382	1086	38	1	198	1	MCC	5	112364641	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	79957627	112364641	68550619	16	3865										
PCDHGA11	56105	broad.mit.edu	37	chr5	140801920	140801920	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	ttctaaatgtgcaagatcaaGattctggagaaaatggtcaa	9	5	4	3			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr5:140801920G>A	ENST00000398587.2	+	1	1159	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.D376N|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_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|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	376	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(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)			GCAAGATCAAGATTCTGGAGA	0.348																																						ENST00000398587.2																			0				breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(1126-1128)Gat>Aat									33	32	32					5																	140801920		1822	4081	5903	SO:0001583	missense	0							g.chr5:140801920G>A	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.1126G>A	5.37:g.140801920G>A	ENSP00000381589:p.Asp376Asn		Somatic				PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.D376N|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	p.D376N	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	1159	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.1126G>A	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	24.1	4.497781	0.85069	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.74002	-0.8;-0.8	5.82	5.82	0.92795	Cadherin (4);Cadherin-like (1);	0.000000	0.29376	U	0.012324	D	0.93350	0.7880	H	0.99650	4.68	0.44149	D	0.996942	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.95948	0.8952	10	0.87932	D	0	.	19.7094	0.96085	0.0:0.0:1.0:0.0	.	376;376;376	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	N	376	ENSP00000381589:D376N;ENSP00000428333:D376N	ENSP00000381589:D376N	D	+	1	0	PCDHGA11	140782104	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.567000	0.98161	2.752000	0.94435	0.655000	0.94253	GAT		0.348	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		5	37	0	0	0	1	0	5	37					A	140801920	G	A	140801920	3	1	40	1	0	0	0	0	1	0	0	0	11561	942	33	3	1128	3	PCDHGA11	5	140801920	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	28437279	140801920	40113340	17	3866										
DUSP22	56940	broad.mit.edu	37	chr6	350858	350858	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	gaagttctgggcctttctcaGaagactgtaatgtacctgaa	10	8	2	3			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr6:350858G>C	ENST00000344450.5	+	8	988	c.545G>C	c.(544-546)aGa>aCa	p.R182T	DUSP22_ENST00000604971.1_3'UTR|DUSP22_ENST00000419235.2_3'UTR	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	182					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCCTTTCTCAGAAGACTGTAA	0.393																																						ENST00000344450.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26						c.(544-546)aGa>aCa		dual specificity phosphatase 22							124	119	121					6																	350858		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:350858G>C	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.545G>C	6.37:g.350858G>C	ENSP00000345281:p.Arg182Thr		Somatic				DUSP22_ENST00000604971.1_3'UTR|DUSP22_ENST00000419235.2_3'UTR	p.R182T	NM_020185.3	NP_064570.1	WXS	Illumina GAIIx	Phase_I	Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	8	988	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	182					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.545G>C	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311545	0.81358	.	.	ENSG00000112679	ENST00000344450	T	0.04454	3.62	5.56	5.56	0.83823	.	0.297802	0.32836	N	0.005581	T	0.06781	0.0173	L	0.36672	1.1	0.30632	N	0.757374	D	0.54601	0.967	P	0.60789	0.879	T	0.01930	-1.1245	10	0.87932	D	0	.	15.0308	0.71705	0.0:0.0:1.0:0.0	.	182	Q9NRW4	DUS22_HUMAN	T	182	ENSP00000345281:R182T	ENSP00000345281:R182T	R	+	2	0	DUSP22	295858	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.379000	0.59575	2.603000	0.88011	0.557000	0.71058	AGA		0.393	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		11	37	0	0	0	1	0	11	37					C	350858	G	C	350858	3	2	40	1	0	0	0	0	1	0	0	0	4823	942	33	2	575	2	DUSP22	6	350858	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08		350858	170764209	18	3867										
HIST1H2BF	8343	broad.mit.edu	37	chr6	26200068	26200068	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	tccaccatcacctccagggaGatccagacggccgtacgcct	9	17	1	2			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr6:26200068G>A	ENST00000359985.1	+	1	321	c.282G>A	c.(280-282)gaG>gaA	p.E94E	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	94					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)				CCTCCAGGGAGATCCAGACGG	0.602																																						ENST00000359985.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(280-282)gaG>gaA		histone cluster 1, H2bf							85	89	88					6																	26200068		2203	4299	6502	SO:0001819	synonymous_variant	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26200068G>A	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.282G>A	6.37:g.26200068G>A			Somatic					p.E94E	NM_003522.3	NP_003513.1	WXS	Illumina GAIIx	Phase_I	P62807	H2B1C_HUMAN			1	321	+		all_hematologic(11;0.196)	94					P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000359985.1	37	c.282G>A	CCDS4592.1																																																																																				0.602	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		69	120	0	0	0	1	0	69	120					A	26200068	G	A	26200068	2	1	40	1	0	0	0	0	0	0	0	1	7154	933	33	3		3	HIST1H2BF	6	26200068	Silent	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	25849210	26200068	144914999	19	3868										
HLA-B	3106	broad.mit.edu	37	chr6	31322991	31322991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	cgatggggacggtggactggGaagacggctctgggaaagga	20	6	1	1			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr6:31322991G>A	ENST00000412585.2	-	5	933	c.905C>T	c.(904-906)tCc>tTc	p.S302F		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	302	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGTGGACTGGGAAGACGGCTC	0.597									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.(904-906)tCc>tTc		major histocompatibility complex, class I, B							67	67	67					6																	31322991		1511	2709	4220	SO:0001583	missense	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31322991G>A	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.905C>T	6.37:g.31322991G>A	ENSP00000399168:p.Ser302Phe		Somatic					p.S302F	NM_005514.6	NP_005505.2	WXS	Illumina GAIIx	Phase_I					5	933	-								Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	c.905C>T	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	10.28	1.307181	0.23821	.	.	ENSG00000234745	ENST00000412585;ENST00000428231	T	0.00653	5.96	3.57	0.669	0.17918	Immunoglobulin-like fold (1);	0.657619	0.12355	U	0.476215	T	0.02156	0.0067	H	0.97540	4.025	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.26224	-1.0109	10	0.87932	D	0	.	5.361	0.16087	0.3985:0.0:0.6015:0.0	.	302	P01889	1B07_HUMAN	F	302;181	ENSP00000399168:S302F	ENSP00000399168:S302F	S	-	2	0	HLA-B	31430970	0.000000	0.05858	0.008000	0.14137	0.096000	0.18686	-0.264000	0.08658	0.172000	0.19760	0.442000	0.29010	TCC		0.597	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		22	51	0	0	0	1	0	22	51					A	31322991	G	A	31322991	3	1	40	1	0	0	0	0	1	0	0	0	7205	1174	41	3	195	3	HLA-B	6	31322991	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	5122923	31322991	139792076	20	3869										
DOPEY1	23033	broad.mit.edu	37	chr6	83855292	83855292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	tttattagtggaattggttcGttcaatcagtgtcatgagag	11	4	3	1	rs367662678		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr6:83855292G>A	ENST00000349129.2	+	25	5851	c.5591G>A	c.(5590-5592)cGt>cAt	p.R1864H	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.R1855H|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R1845H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1864					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)		GAATTGGTTCGTTCAATCAGT	0.373																																						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.(5590-5592)cGt>cAt		dopey family member 1		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	89	75	79		5564,5591	6.1	1	6		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DOPEY1	NM_001199942.1,NM_015018.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1855/2477,1864/2466	83855292	1,13005	2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83855292G>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.5591G>A	6.37:g.83855292G>A	ENSP00000195654:p.Arg1864His		Somatic				DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R1845H|DOPEY1_ENST00000369739.3_Missense_Mutation_p.R1855H	p.R1864H	NM_015018.3	NP_055833.2	WXS	Illumina GAIIx	Phase_I	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	25	5851	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1864					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.5591G>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070009	0.76301	0.0	1.16E-4	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.23950	1.88;1.88	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.994	T	0.00870	-1.1533	10	0.15499	T	0.54	.	20.5989	0.99451	0.0:0.0:1.0:0.0	.	1755;1855;1864	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	H	1864;1845;1845	ENSP00000195654:R1864H;ENSP00000237163:R1845H	ENSP00000237163:R1845H	R	+	2	0	DOPEY1	83912011	1.000000	0.71417	0.997000	0.53966	0.320000	0.28249	9.444000	0.97578	2.871000	0.98454	0.637000	0.83480	CGT		0.373	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		7	12	0	0	0	1	0	7	12					A	83855292	G	A	83855292	3	1	40	1	0	0	0	0	1	0	0	0	4709	1145	40	1	5681	1	DOPEY1	6	83855292	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	52532301	83855292	87259775	21	3870										
NUP43	348995	broad.mit.edu	37	chr6	150067548	150067548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	cctgtagcgaacgtctccgcGgtctgtaaacttcccggagg	12	13	2	0			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr6:150067548G>A	ENST00000340413.2	-	1	160	c.84C>T	c.(82-84)acC>acT	p.T28T	NUP43_ENST00000367404.4_Silent_p.T28T|NUP43_ENST00000460354.2_Silent_p.T28T|NUP43_ENST00000367403.3_Silent_p.T89T|NUP43_ENST00000463048.3_Intron	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	28					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)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ACGTCTCCGCGGTCTGTAAAC	0.587											OREG0017720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000340413.2																			0				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(82-84)acC>acT		nucleoporin 43kDa							112	119	116					6																	150067548		2203	4300	6503	SO:0001819	synonymous_variant	348995				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr6:150067548G>A	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"WD repeat domain containing"	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.84C>T	6.37:g.150067548G>A			Somatic	OREG0017720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1729	NUP43_ENST00000367403.3_Silent_p.T89T|NUP43_ENST00000367404.4_Silent_p.T28T|NUP43_ENST00000463048.3_Intron|NUP43_ENST00000460354.2_Silent_p.T28T	p.T28T	NM_198887.1	NP_942590.1	WXS	Illumina GAIIx	Phase_I	Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	1	160	-		Ovarian(120;0.0164)	28					B4E2F0|Q9H8S0	Silent	SNP	ENST00000340413.2	37	c.84C>T	CCDS5218.1																																																																																				0.587	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887		94	130	0	0	0	1	0	94	130					A	150067548	G	A	150067548	2	1	40	1	0	0	0	0	0	0	0	1	10774	1103	39	1		1	NUP43	6	150067548	Silent	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	66212256	150067548	21047519	22	3871										
TNRC18	84629	broad.mit.edu	37	chr7	5352339	5352339	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	gtgtgggctgcggaggaggcGcctggggctggggcgcgggc	25	9	0	0	rs569812690		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr7:5352339G>A	ENST00000430969.1	-	27	8531	c.8183C>T	c.(8182-8184)gCg>gTg	p.A2728V	TNRC18_ENST00000399537.4_Missense_Mutation_p.A2728V	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2728							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)		CGGAGGAGGCGCCTGGGGCTG	0.736													G|||	1	0.000199681	0	0	5008	,	,		8514	0		0.001	False		,,,				2504	0					ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(8182-8184)gCg>gTg		trinucleotide repeat containing 18							9	11	10					7																	5352339		1259	2824	4083	SO:0001583	missense	84629						DNA binding	g.chr7:5352339G>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.8183C>T	7.37:g.5352339G>A	ENSP00000395538:p.Ala2728Val		Somatic				TNRC18_ENST00000430969.1_Missense_Mutation_p.A2728V	p.A2728V			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	8531	-		Ovarian(82;0.142)	2728					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.8183C>T	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.006|6.006	0.369530|0.369530	0.11352|0.11352	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000399537;ENST00000430969|ENST00000399544	T;T|.	0.04970|.	3.52;3.52|.	4.01|4.01	0.795|0.795	0.18643|0.18643	.|.	.|1.973690	.|0.03209	.|N	.|0.175888	T|T	0.26085|0.26085	0.0636|0.0636	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B|.	0.17268|.	0.021|.	B|.	0.08055|.	0.003|.	T|T	0.29640|0.29640	-1.0005|-1.0005	9|7	0.29301|0.87932	T|D	0.29|0	.|.	1.5778|1.5778	0.02628|0.02628	0.1761:0.1287:0.4183:0.2768|0.1761:0.1287:0.4183:0.2768	.|.	2728|.	O15417|.	TNC18_HUMAN|.	V|C	2728|1241	ENSP00000382452:A2728V;ENSP00000395538:A2728V|.	ENSP00000382452:A2728V|ENSP00000382459:R1241C	A|R	-|-	2|1	0|0	TNRC18|TNRC18	5318865|5318865	0.994000|0.994000	0.37717|0.37717	0.001000|0.001000	0.08648|0.08648	0.428000|0.428000	0.31595|0.31595	2.090000|2.090000	0.41682|0.41682	0.286000|0.286000	0.22352|0.22352	0.484000|0.484000	0.47621|0.47621	GCG|CGC		0.736	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				6	15	0	0	0	1	0	6	15					A	5352339	G	A	5352339	3	1	40	1	0	0	0	0	1	0	0	0	16354	1087	38	1	739	1	TNRC18	7	5352339	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08		5352339	153786324	23	3872										
IGF2BP3	10643	broad.mit.edu	37	chr7	23391160	23391160	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	tcagggatataggctactttCaaggtgaaattctctaactg	9	7	3	1			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr7:23391160C>T	ENST00000258729.3	-	6	803	c.447G>A	c.(445-447)ttG>ttA	p.L149L	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	149	RRM 2. {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)|translation (GO:0006412)	cytoplasm (GO:0005737)|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)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						AGGCTACTTTCAAGGTGAAAT	0.527																																						ENST00000258729.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(445-447)ttG>ttA		insulin-like growth factor 2 mRNA binding protein 3							40	45	43					7																	23391160		2203	4300	6503	SO:0001819	synonymous_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23391160C>T	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"RNA binding motif (RRM) containing"	28868	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 3", "cancer/testis antigen 98"	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.447G>A	7.37:g.23391160C>T			Somatic				IGF2BP3_ENST00000491719.1_5'UTR	p.L149L	NM_006547.2	NP_006538.2	WXS	Illumina GAIIx	Phase_I	O00425	IF2B3_HUMAN			6	803	-			149			RRM 2.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	c.447G>A	CCDS5382.1																																																																																				0.527	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		19	43	0	0	0	1	0	19	43					T	23391160	C	T	23391160	2	4	40	1	0	0	0	0	0	0	0	1	7584	825	29	3		3	IGF2BP3	7	23391160	Silent	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08	18038821	23391160	135747503	24	3873										
SUMF2	25870	broad.mit.edu	37	chr7	56140699	56140699	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	tgtctttatagggattttgtCagggagaaaaagtatcggac	12	4	2	1			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr7:56140699C>G	ENST00000413756.1	+	3	257	c.234C>G	c.(232-234)gtC>gtG	p.V78V	SUMF2_ENST00000395436.2_Silent_p.V97V|SUMF2_ENST00000434526.2_Silent_p.V97V|SUMF2_ENST00000395435.2_Silent_p.V97V|SUMF2_ENST00000437307.2_Silent_p.V78V|SUMF2_ENST00000342190.6_Silent_p.V97V|SUMF2_ENST00000275607.9_5'UTR			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	78					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			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)			GGGATTTTGTCAGGGAGAAAA	0.478																																						ENST00000434526.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(289-291)gtC>gtG		sulfatase modifying factor 2							113	115	115					7																	56140699		2203	4300	6503	SO:0001819	synonymous_variant	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56140699C>G	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.234C>G	7.37:g.56140699C>G			Somatic				SUMF2_ENST00000437307.2_Silent_p.V78V|SUMF2_ENST00000275607.9_5'UTR|SUMF2_ENST00000413756.1_Silent_p.V78V|SUMF2_ENST00000342190.6_Silent_p.V97V|SUMF2_ENST00000395436.2_Silent_p.V97V|SUMF2_ENST00000395435.2_Silent_p.V97V	p.V97V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	WXS	Illumina GAIIx	Phase_I	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	322	+	Breast(14;0.214)		78					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Silent	SNP	ENST00000413756.1	37	c.291C>G																																																																																					0.478	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411		10	25	0	0	0	1	0	10	25					G	56140699	C	G	56140699	2	3	40	1	0	0	0	0	0	0	0	1	15401	813	29	2		2	SUMF2	7	56140699	Silent	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08	32749539	56140699	102997964	25	3874										
AGPAT6	137964	broad.mit.edu	37	chr8	41467297	41467297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	tgacattttctacttttgccGgaaaggaatggagaccatta	9	7	1	2			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr8:41467297G>A	ENST00000396987.3	+	4	1286	c.359G>A	c.(358-360)cGg>cAg	p.R120Q	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	120					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TACTTTTGCCGGAAAGGAATG	0.443																																						ENST00000396987.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14						c.(358-360)cGg>cAg		1-acylglycerol-3-phosphate O-acyltransferase 6							105	99	101					8																	41467297		2203	4300	6503	SO:0001583	missense	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41467297G>A	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	20880	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, zeta"	608143	"1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.359G>A	8.37:g.41467297G>A	ENSP00000380184:p.Arg120Gln		Somatic				RP11-360L9.8_ENST00000581909.1_RNA	p.R120Q	NM_178819.3	NP_848934.1	WXS	Illumina GAIIx	Phase_I	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		4	1286	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	120					Q86V89	Missense_Mutation	SNP	ENST00000396987.3	37	c.359G>A	CCDS6117.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947472	0.92593	.	.	ENSG00000158669	ENST00000396987;ENST00000519853	T	0.45276	0.9	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	L	0.38531	1.155	0.80722	D	1	B	0.29432	0.244	B	0.26310	0.068	T	0.28235	-1.0050	10	0.59425	D	0.04	.	17.4163	0.87500	0.0:0.0:1.0:0.0	.	120	Q86UL3	GPAT4_HUMAN	Q	120;74	ENSP00000380184:R120Q	ENSP00000380184:R120Q	R	+	2	0	AGPAT6	41586454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.597000	0.98273	2.643000	0.89663	0.563000	0.77884	CGG		0.443	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		121	50	0	0	0	1	0	121	50					A	41467297	G	A	41467297	3	1	40	1	0	0	0	0	1	0	0	0	391	1116	39	1	369	1	AGPAT6	8	41467297	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08		41467297	104896725	26	3875										
FAM135B	51059	broad.mit.edu	37	chr8	139151238	139151238	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	aaaccactgacctgttttttGgcttagttggtagaggaaac	10	7	0	2			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr8:139151238G>T	ENST00000395297.1	-	18	4062	c.3892C>A	c.(3892-3894)Caa>Aaa	p.Q1298K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1298										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)			CCTGTTTTTTGGCTTAGTTGG	0.438										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.(3892-3894)Caa>Aaa		family with sequence similarity 135, member B							115	111	112					8																	139151238		1877	4117	5994	SO:0001583	missense	51059							g.chr8:139151238G>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.3892C>A	8.37:g.139151238G>T	ENSP00000378710:p.Gln1298Lys	HNSCC(54;0.14)	Somatic					p.Q1298K	NM_015912.3	NP_056996.2	WXS	Illumina GAIIx	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		18	4062	-	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)		1298					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3892C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884815	0.72410	.	.	ENSG00000147724	ENST00000395297	T	0.42513	0.97	5.48	5.48	0.80851	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	T	0.33440	0.0863	N	0.16201	0.385	0.53688	D	0.999971	P	0.39094	0.659	B	0.43658	0.426	T	0.06391	-1.0829	10	0.14656	T	0.56	-17.2504	18.3244	0.90248	0.0:0.0:1.0:0.0	.	1298	Q49AJ0	F135B_HUMAN	K	1298	ENSP00000378710:Q1298K	ENSP00000378710:Q1298K	Q	-	1	0	FAM135B	139220420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.906000	0.69900	2.586000	0.87340	0.655000	0.94253	CAA		0.438	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		16	22	1	0	5.01169e-05	1	5.07678e-05	16	22					T	139151238	G	T	139151238	3	4	40	1	0	0	0	0	1	0	0	0	5454	1357	47	5	340	5	FAM135B	8	139151238	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	97683941	139151238	7212784	27	3876										
EPPK1	83481	broad.mit.edu	37	chr8	144940732	144940732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	ggctggtccttggcgggcacCaggacgcccgcgatgcagct	16	14	0	0			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr8:144940732C>T	ENST00000525985.1	-	2	6761	c.6690G>A	c.(6688-6690)ctG>ctA	p.L2230L				P58107	EPIPL_HUMAN	epiplakin 1	2230						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.L2230L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCGGGCACCAGGACGCCCG	0.687																																						ENST00000525985.1																			1	Substitution - coding silent(1)	p.L2230L(1)	kidney(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6688-6690)ctG>ctA		epiplakin 1																																				SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940732C>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.6690G>A	8.37:g.144940732C>T			Somatic					p.L2230L			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	6761	-	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)		2230					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6690G>A																																																																																					0.687	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		6	151	0	0	0	1	0	6	151					T	144940732	C	T	144940732	2	4	40	1	0	0	0	0	0	0	0	1	5192	581	21	3		3	EPPK1	8	144940732	Silent	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08	5789494	144940732	1423290	28	3877										
DENND4C	55667	broad.mit.edu	37	chr9	19316786	19316786	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	catatctcagaccaatcacaGaggctccttcaaataaagcc	5	13	3	2			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr9:19316786G>A	ENST00000380432.2	+	8	1081	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	DENND4C_ENST00000434457.2_Missense_Mutation_p.E586K|DENND4C_ENST00000602925.1_Missense_Mutation_p.E586K			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	350	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACCAATCACAGAGGCTCCTTC	0.373																																						ENST00000380432.2																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1048-1050)Gag>Aag		DENN/MADD domain containing 4C							107	119	115					9																	19316786		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19316786G>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.1048G>A	9.37:g.19316786G>A	ENSP00000369797:p.Glu350Lys		Somatic				DENND4C_ENST00000307015.9_5'UTR|DENND4C_ENST00000434457.2_Missense_Mutation_p.E586K|DENND4C_ENST00000602925.1_Missense_Mutation_p.E586K	p.E350K	NM_017925.4	NP_060395.5	WXS	Illumina GAIIx	Phase_I	Q5VZ89	DEN4C_HUMAN			8	1081	+			350			dDENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.1048G>A		.	.	.	.	.	.	.	.	.	.	G	17.16	3.317867	0.60524	.	.	ENSG00000137145	ENST00000380437	.	.	.	5.13	5.13	0.70059	dDENN (3);	0.740258	0.13613	N	0.375005	T	0.25269	0.0614	N	0.01277	-0.915	0.80722	D	1	P	0.40000	0.698	B	0.43990	0.438	T	0.14476	-1.0471	9	0.15952	T	0.53	-16.9453	12.9573	0.58434	0.0:0.2939:0.7061:0.0	.	350	Q5VZ89	DEN4C_HUMAN	K	350	.	ENSP00000369802:E350K	E	+	1	0	DENND4C	19306786	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.364000	0.66110	2.672000	0.90937	0.460000	0.39030	GAG		0.373	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		44	15	0	0	0	1	0	44	15					A	19316786	G	A	19316786	3	1	40	1	0	0	0	0	1	0	0	0	4437	943	33	3	1078	3	DENND4C	9	19316786	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08		19316786	121896645	29	3878										
CNTNAP3	79937	broad.mit.edu	37	chr9	39133037	39133037	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	ccccgcgcccgctgcgtacgCgaaggacacagccgagcgcg	14	18	0	0			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr9:39133037C>G	ENST00000297668.6	-	13	2045	c.1972G>C	c.(1972-1974)Gcg>Ccg	p.A658P	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.A570P|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.A657P|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.A564P|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.A657P	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	658	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GCTGCGTACGCGAAGGACACA	0.776																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1972-1974)Gcg>Ccg		contactin associated protein-like 3							3	4	4					9																	39133037		1234	2550	3784	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39133037C>G	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1972G>C	9.37:g.39133037C>G	ENSP00000297668:p.Ala658Pro		Somatic				CNTNAP3_ENST00000377659.1_Missense_Mutation_p.A657P|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.A564P|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.A570P|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.A657P	p.A658P	NM_033655.3	NP_387504.2	WXS	Illumina GAIIx	Phase_I	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	13	2045	-			658			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.1972G>C	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882796	0.33255	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.85	2.48	-3.69	0.04450	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	.	.	.	.	T	0.15392	0.0371	L	0.34521	1.04	0.21527	N	0.999651	P;P;P;P;B	0.46020	0.625;0.657;0.871;0.817;0.27	B;B;P;B;B	0.47470	0.119;0.258;0.548;0.379;0.258	T	0.10474	-1.0628	9	0.35671	T	0.21	.	2.7741	0.05342	0.2123:0.3541:0.0:0.4336	.	564;658;658;657;658	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	P	658;657;570;564;657	ENSP00000297668:A658P;ENSP00000366884:A657P;ENSP00000350863:A570P;ENSP00000320728:A564P;ENSP00000366887:A657P	ENSP00000297668:A658P	A	-	1	0	CNTNAP3	39123037	0.978000	0.34361	0.021000	0.16686	0.050000	0.14768	0.102000	0.15272	-0.786000	0.04516	0.454000	0.30748	GCG		0.776	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		3	6	0	0	0	1	0	3	6					G	39133037	C	G	39133037	3	3	40	1	0	0	0	0	1	0	0	0	3650	768	27	5	1942	5	CNTNAP3	9	39133037	Missense_Mutation	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08	19816251	39133037	102080394	30	3879										
ZCCHC6	79670	broad.mit.edu	37	chr9	88937264	88937264	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	acactggatacagacttgatCtaagatatttaaaaacttgg	7	6	1	3			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr9:88937264C>A	ENST00000375963.3	-	14	3176	c.3004G>T	c.(3004-3006)Gat>Tat	p.D1002Y	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.D1002Y|ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.D291Y|ZCCHC6_ENST00000375957.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1002					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						CAGACTTGATCTAAGATATTT	0.343																																						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.(871-873)Gat>Tat		zinc finger, CCHC domain containing 6							105	109	108					9																	88937264		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88937264C>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.3004G>T	9.37:g.88937264C>A	ENSP00000365130:p.Asp1002Tyr		Somatic				ZCCHC6_ENST00000375963.3_Missense_Mutation_p.D1002Y|ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.D1002Y	p.D291Y			WXS	Illumina GAIIx	Phase_I	Q5VYS8	TUT7_HUMAN			15	3295	-			1002					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.871G>T	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.778974	0.70107	.	.	ENSG00000083223	ENST00000277141;ENST00000375961;ENST00000375963	T;T;T	0.49720	0.77;0.77;0.77	5.48	5.48	0.80851	.	0.049031	0.85682	D	0.000000	T	0.71160	0.3307	M	0.79258	2.445	0.50039	D	0.999843	D	0.69078	0.997	D	0.73708	0.981	T	0.73477	-0.3970	10	0.87932	D	0	-30.072	19.5559	0.95347	0.0:1.0:0.0:0.0	.	1002	Q5VYS8	TUT7_HUMAN	Y	291;1002;1002	ENSP00000277141:D291Y;ENSP00000365128:D1002Y;ENSP00000365130:D1002Y	ENSP00000277141:D291Y	D	-	1	0	ZCCHC6	88127084	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.717000	0.47227	2.861000	0.98227	0.650000	0.86243	GAT		0.343	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		18	8	1	0	3.51602e-12	1	3.75684e-12	18	8					A	88937264	C	A	88937264	3	1	40	1	0	0	0	0	1	0	0	0	17607	913	32	2	1539	2	ZCCHC6	9	88937264	Missense_Mutation	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08	49804227	88937264	52276167	31	3880										
TEX10	54881	broad.mit.edu	37	chr9	103109336	103109336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	tcttaagcaatatgctgctaCggccagtaattagagctggg	11	8	1	1			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr9:103109336C>T	ENST00000374902.4	-	3	709	c.533G>A	c.(532-534)cGt>cAt	p.R178H	TEX10_ENST00000537512.1_Missense_Mutation_p.R113H|TEX10_ENST00000535814.1_Missense_Mutation_p.R181H	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	178						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TATGCTGCTACGGCCAGTAAT	0.413																																						ENST00000374902.4																			0				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38						c.(532-534)cGt>cAt		testis expressed 10							71	75	74					9																	103109336		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103109336C>T	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.533G>A	9.37:g.103109336C>T	ENSP00000364037:p.Arg178His		Somatic				TEX10_ENST00000535814.1_Missense_Mutation_p.R181H|TEX10_ENST00000537512.1_Missense_Mutation_p.R113H	p.R178H	NM_017746.3	NP_060216.2	WXS	Illumina GAIIx	Phase_I	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	3	709	-		Acute lymphoblastic leukemia(62;0.0527)	178					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.533G>A	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063144	0.76187	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000537512	T;T;T	0.63913	-0.07;-0.07;-0.07	5.32	5.32	0.75619	Armadillo-like helical (1);Armadillo-type fold (1);	0.049533	0.85682	D	0.000000	T	0.74928	0.3781	L	0.49640	1.575	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.977	P;D;P	0.85130	0.79;0.997;0.73	T	0.70963	-0.4729	10	0.29301	T	0.29	-9.6933	18.9915	0.92794	0.0:1.0:0.0:0.0	.	113;181;178	B7Z9D5;B4DYV2;Q9NXF1	.;.;TEX10_HUMAN	H	181;178;113	ENSP00000444555:R181H;ENSP00000364037:R178H;ENSP00000438120:R113H	ENSP00000364037:R178H	R	-	2	0	TEX10	102149157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.079000	0.71291	2.484000	0.83849	0.591000	0.81541	CGT		0.413	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		18	9	0	0	0	1	0	18	9					T	103109336	C	T	103109336	3	4	40	1	0	0	0	0	1	0	0	0	15787	536	19	1	2308	1	TEX10	9	103109336	Missense_Mutation	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08	14172072	103109336	38104095	32	3881										
CCBL1	883	broad.mit.edu	37	chr9	131600040	131600040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	atttgccggccagctccatgGggtccagctgccagttgctg	13	13	0	0			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr9:131600040G>A	ENST00000302586.3	-	6	653	c.491C>T	c.(490-492)cCc>cTc	p.P164L	CCBL1_ENST00000436267.2_Missense_Mutation_p.P258L|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.P114L	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	164					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	CAGCTCCATGGGGTCCAGCTG	0.597																																						ENST00000436267.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(772-774)cCc>cTc		cysteine conjugate-beta lyase, cytoplasmic	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						70	76	74					9																	131600040		2036	4168	6204	SO:0001583	missense	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131600040G>A	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"glutamine transaminase K", "kyneurenine aminotransferase"	600547	"cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.491C>T	9.37:g.131600040G>A	ENSP00000302227:p.Pro164Leu		Somatic				CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.P114L|CCBL1_ENST00000302586.3_Missense_Mutation_p.P164L	p.P258L			WXS	Illumina GAIIx	Phase_I	Q16773	KAT1_HUMAN			8	922	-			164					Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	c.773C>T	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463538	0.26248	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267;ENST00000451800;ENST00000416084	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44	5.35	5.35	0.76521	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.168568	0.53938	D	0.000054	T	0.80076	0.4557	L	0.28556	0.865	0.52501	D	0.999954	B;B;B;B	0.31625	0.332;0.04;0.061;0.013	B;B;B;B	0.29598	0.104;0.056;0.062;0.025	T	0.75306	-0.3364	10	0.11485	T	0.65	-17.6669	11.156	0.48489	0.0854:0.0:0.9146:0.0	.	258;114;164;164	B7Z4W5;Q16773-2;Q16773;Q5T278	.;.;KAT1_HUMAN;.	L	164;114;258;164;164	ENSP00000302227:P164L;ENSP00000317342:P114L;ENSP00000399415:P258L;ENSP00000390377:P164L;ENSP00000412402:P164L	ENSP00000302227:P164L	P	-	2	0	CCBL1	130639861	1.000000	0.71417	0.865000	0.33974	0.554000	0.35429	4.584000	0.60971	2.486000	0.83907	0.650000	0.86243	CCC		0.597	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			46	6	0	0	0	1	0	46	6					A	131600040	G	A	131600040	3	1	40	1	0	0	0	0	1	0	0	0	2734	1232	43	3	809	3	CCBL1	9	131600040	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	28490704	131600040	9613391	33	3882										
PPYR1	5540	broad.mit.edu	37	chr10	47087186	47087186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	ccatcctctcgctcgtcctcGtggccctggagaggcatcag	11	16	2	1	rs144429123		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr10:47087186G>A	ENST00000395716.1	+	2	488	c.403G>A	c.(403-405)Gtg>Atg	p.V135M	NPY4R_ENST00000374312.1_Missense_Mutation_p.V135M			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	135					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)	p.V135M(1)									GCTCGTCCTCGTGGCCCTGGA	0.572																																						ENST00000374312.1																			1	Substitution - Missense(1)	p.V135M(1)	large_intestine(1)								c.(403-405)Gtg>Atg		neuropeptide Y receptor Y4							288	256	267					10																	47087186		2203	4300	6503	SO:0001583	missense	0							g.chr10:47087186G>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.403G>A	10.37:g.47087186G>A	ENSP00000379066:p.Val135Met		Somatic				NPY4R_ENST00000395716.1_Missense_Mutation_p.V135M	p.V135M	NM_005972.4	NP_005963.3	WXS	Illumina GAIIx	Phase_I					3	822	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.403G>A	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978308	0.53720	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.70986	-0.53;-0.53	4.93	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.136285	0.49916	D	0.000137	T	0.70141	0.3190	N	0.26042	0.785	0.40798	D	0.983314	D	0.76494	0.999	D	0.64687	0.928	T	0.72734	-0.4204	10	0.87932	D	0	.	8.1752	0.31278	0.1832:0.0:0.8168:0.0	.	135	P50391	NPY4R_HUMAN	M	135	ENSP00000363431:V135M;ENSP00000379066:V135M	ENSP00000363431:V135M	V	+	1	0	PPYR1	46507192	1.000000	0.71417	0.981000	0.43875	0.539000	0.34962	6.054000	0.71096	2.464000	0.83262	0.609000	0.83330	GTG		0.572	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			42	353	0	0	0	1	0	42	353					A	47087186	G	A	47087186	3	1	40	1	0	0	0	0	1	0	0	0	12428	1145	40	1	405	1	PPYR1	10	47087186	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08		47087186	88447561	34	3883										
SLC16A12	387700	broad.mit.edu	37	chr10	91198855	91198855	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	atgccacttcctgacatggcGataccataagcaagggcttt	9	11	0	1	rs192441993	byFrequency	TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr10:91198855G>A	ENST00000341233.4	-	6	834	c.444C>T	c.(442-444)atC>atT	p.I148I	SLC16A12_ENST00000371790.4_Silent_p.I178I	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						CTGACATGGCGATACCATAAG	0.498													G|||	2	0.000399361	0	0	5008	,	,		19857	0.002		0	False		,,,				2504	0					ENST00000341233.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						c.(442-444)atC>atT		solute carrier family 16, member 12							120	115	117					10																	91198855		2203	4300	6503	SO:0001819	synonymous_variant	387700					integral to membrane|plasma membrane	symporter activity	g.chr10:91198855G>A		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"Solute carriers"	23094	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 12"	611910	"solute carrier family 16 (monocarboxylic acid transporters), member 12", "solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.444C>T	10.37:g.91198855G>A			Somatic				SLC16A12_ENST00000371790.4_Silent_p.I178I	p.I148I	NM_213606.3	NP_998771.3	WXS	Illumina GAIIx	Phase_I	Q6ZSM3	MOT12_HUMAN			6	834	-			148					Q5M9M9|Q5T7J2|Q6ZV76	Silent	SNP	ENST00000341233.4	37	c.444C>T																																																																																					0.498	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		20	140	0	0	0	1	0	20	140					A	91198855	G	A	91198855	2	1	40	1	0	0	0	0	0	0	0	1	14420	1048	37	1		1	SLC16A12	10	91198855	Silent	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	44111669	91198855	44335892	35	3884										
CRTAC1	55118	broad.mit.edu	37	chr10	99696031	99696031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	tcccctgccggtcccgcagcGcgtagtagggtgagctgcgc	15	15	0	1	rs80014629	byFrequency	TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr10:99696031G>A	ENST00000370597.3	-	3	672	c.317C>T	c.(316-318)gCg>gTg	p.A106V	CRTAC1_ENST00000370591.2_Missense_Mutation_p.A106V|CRTAC1_ENST00000298819.4_Missense_Mutation_p.A106V	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	106						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.A106V(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)		GTCCCGCAGCGCGTAGTAGGG	0.617													G|||	7	0.00139776	0.0053	0	5008	,	,		18551	0		0	False		,,,				2504	0					ENST00000370597.3																			1	Substitution - Missense(1)	p.A106V(1)	endometrium(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.(316-318)gCg>gTg		cartilage acidic protein 1		G	VAL/ALA,VAL/ALA	18,4388	24.3+/-50.5	0,18,2185	66	54	58		317,317	4.8	1	10	dbSNP_131	58	0,8600		0,0,4300	yes	missense,missense	CRTAC1	NM_001206528.2,NM_018058.6	64,64	0,18,6485	AA,AG,GG		0.0,0.4085,0.1384	benign,benign	106/646,106/662	99696031	18,12988	2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99696031G>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.317C>T	10.37:g.99696031G>A	ENSP00000359629:p.Ala106Val		Somatic				CRTAC1_ENST00000370591.2_Missense_Mutation_p.A106V|CRTAC1_ENST00000298819.4_Missense_Mutation_p.A106V	p.A106V	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)	3	672	-		Colorectal(252;0.24)	106					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.317C>T	CCDS31266.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	14.45	2.537920	0.45176	0.004085	0.0	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.75050	1.37;-0.9;1.27;-0.05;-0.06	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	L	0.57536	1.79	0.80722	D	1	P;P	0.50710	0.68;0.938	B;B	0.43386	0.089;0.418	T	0.68239	-0.5461	10	0.15066	T	0.55	-16.5833	17.7665	0.88480	0.0:0.0:1.0:0.0	.	106;106	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	V	2;106;106;98;106	ENSP00000408445:A2V;ENSP00000359629:A106V;ENSP00000298819:A106V;ENSP00000310810:A98V;ENSP00000359623:A106V	ENSP00000298819:A106V	A	-	2	0	CRTAC1	99686021	1.000000	0.71417	0.958000	0.39756	0.350000	0.29205	7.675000	0.84002	2.204000	0.70986	0.313000	0.20887	GCG		0.617	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		28	44	0	0	0	1	0	28	44					A	99696031	G	A	99696031	3	1	40	1	0	0	0	0	1	0	0	0	3898	1087	38	1	1720	1	CRTAC1	10	99696031	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	8497176	99696031	35838716	36	3885										
ARCN1	372	broad.mit.edu	37	chr11	118454048	118454050	+	In_Frame_Del	DEL	AGA	AGA	-													0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	agaaatggattctcatgaggAgaaggtgttcagagccgtca							TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr11:118454048_118454050delAGA	ENST00000264028.4	+	3	517_519	c.422_424delAGA	c.(421-426)gagaag>gag	p.K142del	ARCN1_ENST00000392859.3_In_Frame_Del_p.K54del|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_In_Frame_Del_p.K183del	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	142					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TCTCATGAGGAGAAGGTGTTCAG	0.404																																						ENST00000359415.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(544-549)gag>g		archain 1																																				SO:0001651	inframe_deletion	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118454048_118454050delAGA	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"coatomer protein complex, subunit delta"	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.422_424delAGA	11.37:g.118454048_118454050delAGA	ENSP00000264028:p.Lys142del		Somatic				ARCN1_ENST00000392859.3_In_Frame_Del_p.EK53del|ARCN1_ENST00000264028.4_In_Frame_Del_p.EK141del|ARCN1_ENST00000534182.2_Intron	p.EK182del			WXS	Illumina GAIIx	Phase_I	P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	4	710_712	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	141					B4E1X2|E9PEU4|Q52M80	In_Frame_Del	DEL	ENST00000264028.4	37	c.545_547delAGA	CCDS8400.1																																																																																				0.404	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			17	25						17	25	---	---	---	---	-	118454050	AGA	-	118454048	7	5	40	1	0	1	0	1	0	0	0	0	842	304	11	0	432	0	ARCN1	11	118454048	In_Frame_Del	DEL	AGA	TCGA-NA-A4QW-01A-11D-A28R-08		118454048	16552468	37	3886										
B4GALNT3	283358	broad.mit.edu	37	chr12	644395	644395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	gaacattccagctgtggatcCacacctccagttctaccatc	6	15	1	0			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr12:644395C>T	ENST00000266383.5	+	2	246	c.233C>T	c.(232-234)cCa>cTa	p.P78L		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	78					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)			GCTGTGGATCCACACCTCCAG	0.597																																						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.(232-234)cCa>cTa		beta-1,4-N-acetyl-galactosaminyl transferase 3							87	71	76					12																	644395		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:644395C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.233C>T	12.37:g.644395C>T	ENSP00000266383:p.Pro78Leu		Somatic					p.P78L	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)		2	246	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		78					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.233C>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	9.108	1.005905	0.19199	.	.	ENSG00000139044	ENST00000266383	T	0.05447	3.44	5.47	5.47	0.80525	.	0.145134	0.46758	D	0.000268	T	0.06234	0.0161	L	0.33485	1.01	0.29028	N	0.885853	B	0.19200	0.034	B	0.16722	0.016	T	0.15464	-1.0436	10	0.29301	T	0.29	-12.8781	12.3349	0.55060	0.0:0.9179:0.0:0.0821	.	78	Q6L9W6	B4GN3_HUMAN	L	78	ENSP00000266383:P78L	ENSP00000266383:P78L	P	+	2	0	B4GALNT3	514656	0.868000	0.29978	0.081000	0.20488	0.131000	0.20780	3.174000	0.50847	2.547000	0.85894	0.563000	0.77884	CCA		0.597	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		6	29	0	0	0	1	0	6	29					T	644395	C	T	644395	3	4	40	1	0	0	0	0	1	0	0	0	1268	594	21	3	239	3	B4GALNT3	12	644395	Missense_Mutation	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08		644395	133207500	38	3887										
MTMR6	9107	broad.mit.edu	37	chr13	25848322	25848322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	gtcaagtaattttacttgttCgacctaaaagaaaaaaagat	6	5	1	2	rs373972921		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr13:25848322C>T	ENST00000381801.5	-	2	789	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	MTMR6_ENST00000540661.1_Missense_Mutation_p.E10K	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	10					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)		TTTACTTGTTCGACCTAAAAG	0.313																																						ENST00000381801.5																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36						c.(28-30)Gaa>Aaa		myotubularin related protein 6							84	78	80					13																	25848322		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.chr13:25848322C>T	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.28G>A	13.37:g.25848322C>T	ENSP00000371221:p.Glu10Lys		Somatic				MTMR6_ENST00000540661.1_Missense_Mutation_p.E10K	p.E10K	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	789	-		Lung SC(185;0.0225)|Breast(139;0.0351)	10					B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.28G>A	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199563	0.94997	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.81908	-1.55;-1.55	4.93	4.93	0.64822	.	0.048235	0.85682	N	0.000000	D	0.93419	0.7901	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68621	0.934;0.959	D	0.94534	0.7739	10	0.51188	T	0.08	.	18.5046	0.90893	0.0:1.0:0.0:0.0	.	10;10	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	K	10	ENSP00000443161:E10K;ENSP00000371221:E10K	ENSP00000371221:E10K	E	-	1	0	MTMR6	24746322	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.222000	0.78025	2.449000	0.82847	0.591000	0.81541	GAA		0.313	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		22	8	0	0	0	1	0	22	8					T	25848322	C	T	25848322	3	4	40	1	0	0	0	0	1	0	0	0	9956	893	31	1	1889	1	MTMR6	13	25848322	Missense_Mutation	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08		25848322	89321556	39	3888										
MYCBP2	23077	broad.mit.edu	37	chr13	77792029	77792029	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	attaaaagtactgccgtatgGttgctgcctgcagtgacttg	11	8	0	1			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr13:77792029G>C	ENST00000544440.2	-	21	2906	c.2889C>G	c.(2887-2889)aaC>aaG	p.N963K	MYCBP2_ENST00000357337.6_Missense_Mutation_p.N963K|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.N1001K					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)		CTGCCGTATGGTTGCTGCCTG	0.378																																						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.(3001-3003)aaC>aaG		MYC binding protein 2, E3 ubiquitin protein ligase							119	120	120					13																	77792029		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77792029G>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.2889C>G	13.37:g.77792029G>C	ENSP00000444596:p.Asn963Lys		Somatic				MYCBP2_ENST00000357337.6_Missense_Mutation_p.N963K|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.N963K	p.N1001K	NM_015057.4	NP_055872.4	WXS	Illumina GAIIx	Phase_I	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	21	3269	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	963						Missense_Mutation	SNP	ENST00000544440.2	37	c.3003C>G		.	.	.	.	.	.	.	.	.	.	G	18.58	3.654301	0.67472	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	D;D;D	0.85088	-1.94;-1.94;-1.94	5.82	4.09	0.47781	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.89417	0.6709	M	0.64567	1.98	0.52501	D	0.999958	D	0.62365	0.991	D	0.76575	0.988	D	0.87955	0.2726	10	0.54805	T	0.06	.	8.6285	0.33904	0.2867:0.0:0.7133:0.0	.	963	O75592	MYCB2_HUMAN	K	963;1001;963	ENSP00000349892:N963K;ENSP00000384288:N1001K;ENSP00000444596:N963K	ENSP00000349892:N963K	N	-	3	2	MYCBP2	76690030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.335000	0.52105	0.800000	0.34041	0.585000	0.79938	AAC		0.378	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		25	85	0	0	0	1	0	25	85					C	77792029	G	C	77792029	3	2	40	1	0	0	0	0	1	0	0	0	10027	1252	44	5	11285	5	MYCBP2	13	77792029	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	51943707	77792029	37377849	40	3889										
SLC10A2	6555	broad.mit.edu	37	chr13	103710664	103710664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	cagagtcgacccacattttgGtatagataaggaggcacagc	11	9	0	2			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr13:103710664G>A	ENST00000245312.3	-	2	1042	c.446C>T	c.(445-447)aCc>aTc	p.T149I		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	149					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)	CCACATTTTGGTATAGATAAG	0.483																																						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.(445-447)aCc>aTc		solute carrier family 10 (sodium/bile acid cotransporter), member 2							134	114	121					13																	103710664		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103710664G>A	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"Solute carriers"	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.446C>T	13.37:g.103710664G>A	ENSP00000245312:p.Thr149Ile		Somatic					p.T149I	NM_000452.2	NP_000443.1	WXS	Illumina GAIIx	Phase_I	Q12908	NTCP2_HUMAN			2	1042	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		149					A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.446C>T	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111272	0.94339	.	.	ENSG00000125255	ENST00000245312	T	0.11604	2.76	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.28732	0.0712	L	0.58810	1.83	0.58432	D	0.999996	P	0.50819	0.939	P	0.59703	0.862	T	0.00048	-1.2206	10	0.72032	D	0.01	-28.2822	18.4783	0.90800	0.0:0.0:1.0:0.0	.	149	Q12908	NTCP2_HUMAN	I	149	ENSP00000245312:T149I	ENSP00000245312:T149I	T	-	2	0	SLC10A2	102508665	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.742000	0.85008	2.873000	0.98535	0.563000	0.77884	ACC		0.483	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			13	75	0	0	0	1	0	13	75					A	103710664	G	A	103710664	3	1	40	1	0	0	0	0	1	0	0	0	14389	1261	44	3	620	3	SLC10A2	13	103710664	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	25918635	103710664	11459214	41	3890										
OR4K14	122740	broad.mit.edu	37	chr14	20483158	20483158	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	atgtccaggaaagctaggttCcccagcaggaagtacatagg	12	9	0	0			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr14:20483158C>T	ENST00000305045.2	-	1	194	c.195G>A	c.(193-195)ggG>ggA	p.G65G		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	65						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)		AAGCTAGGTTCCCCAGCAGGA	0.483																																						ENST00000305045.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37						c.(193-195)ggG>ggA		olfactory receptor, family 4, subfamily K, member 14							82	73	76					14																	20483158		2203	4300	6503	SO:0001819	synonymous_variant	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20483158C>T		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.195G>A	14.37:g.20483158C>T			Somatic					p.G65G	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	194	-	all_cancers(95;0.00108)		65					Q6IEU1|Q96R71	Silent	SNP	ENST00000305045.2	37	c.195G>A	CCDS32027.1																																																																																				0.483	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			15	59	0	0	0	1	0	15	59					T	20483158	C	T	20483158	2	4	40	1	0	0	0	0	0	0	0	1	11078	842	30	3		3	OR4K14	14	20483158	Silent	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08		20483158	86866382	42	3891										
TTLL5	23093	broad.mit.edu	37	chr14	76232491	76232491	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	cattagataatgaagatgaaGaacaggaggcttcccaggag	12	6	0	5			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr14:76232491G>A	ENST00000298832.9	+	20	2000	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	TTLL5_ENST00000557636.1_Missense_Mutation_p.E613K|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.E108K|TTLL5_ENST00000556893.1_Missense_Mutation_p.E150K	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	599					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)		TGAAGATGAAGAACAGGAGGC	0.403																																						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.(1795-1797)Gaa>Aaa		tubulin tyrosine ligase-like family, member 5							77	75	76					14																	76232491		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76232491G>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.1795G>A	14.37:g.76232491G>A	ENSP00000298832:p.Glu599Lys		Somatic				TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.E108K|TTLL5_ENST00000557636.1_Missense_Mutation_p.E613K|TTLL5_ENST00000556893.1_Missense_Mutation_p.E150K	p.E599K	NM_015072.4	NP_055887.3	WXS	Illumina GAIIx	Phase_I	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	20	2000	+			599					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.1795G>A	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819441	0.71028	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.27256	3.8;3.91;1.76;1.68	5.0	5.0	0.66597	.	0.757669	0.13115	N	0.412667	T	0.26882	0.0658	L	0.40543	1.245	0.38061	D	0.936089	P;P;P	0.50443	0.493;0.893;0.935	B;B;P	0.45310	0.295;0.438;0.476	T	0.07290	-1.0780	10	0.15952	T	0.53	.	16.1352	0.81481	0.0:0.0:1.0:0.0	.	613;150;599	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	K	286;613;599;150;150;108	ENSP00000450713:E613K;ENSP00000298832:E599K;ENSP00000452524:E150K;ENSP00000451946:E108K	ENSP00000298832:E599K	E	+	1	0	TTLL5	75302244	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	4.735000	0.62051	2.331000	0.79229	0.558000	0.71614	GAA		0.403	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		12	19	0	0	0	1	0	12	19					A	76232491	G	A	76232491	3	1	40	1	0	0	0	0	1	0	0	0	16745	943	33	3	1869	3	TTLL5	14	76232491	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	55749333	76232491	31117049	43	3892										
DYNC1H1	1778	broad.mit.edu	37	chr14	102506745	102506745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	ttgcaaaggttcaggcagacGaggtgattgttctcttgaat	12	6	2	3			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr14:102506745G>A	ENST00000360184.4	+	63	12027	c.11863G>A	c.(11863-11865)Gag>Aag	p.E3955K	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3955					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						TCAGGCAGACGAGGTGATTGT	0.512																																						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.(11863-11865)Gag>Aag		dynein, cytoplasmic 1, heavy chain 1							54	52	53					14																	102506745		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.chr14:102506745G>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.11863G>A	14.37:g.102506745G>A	ENSP00000348965:p.Glu3955Lys		Somatic				RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.E3955K	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			63	12027	+			3955					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.11863G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734409	0.48939	.	.	ENSG00000197102	ENST00000360184	T	0.07567	3.18	5.82	4.93	0.64822	Dynein heavy chain (1);	0.046353	0.85682	D	0.000000	T	0.10035	0.0246	L	0.58669	1.825	0.80722	D	1	B	0.24721	0.11	B	0.17098	0.017	T	0.08554	-1.0716	10	0.11794	T	0.64	.	15.0977	0.72247	0.0682:0.0:0.9318:0.0	.	3955	Q14204	DYHC1_HUMAN	K	3955	ENSP00000348965:E3955K	ENSP00000348965:E3955K	E	+	1	0	DYNC1H1	101576498	1.000000	0.71417	0.883000	0.34634	0.448000	0.32197	9.869000	0.99810	1.464000	0.47987	0.655000	0.94253	GAG		0.512	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		20	33	0	0	0	1	0	20	33					A	102506745	G	A	102506745	3	1	40	1	0	0	0	0	1	0	0	0	4843	1059	37	1	12113	1	DYNC1H1	14	102506745	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	26274254	102506745	4842795	44	3893										
TLN2	83660	broad.mit.edu	37	chr15	62942335	62942335	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	gacccgaggaaagggatttgGctggaagcgggcagaacact	16	8	0	1			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr15:62942335G>T	ENST00000561311.1	+	4	419	c.189G>T	c.(187-189)tgG>tgT	p.W63C	TLN2_ENST00000306829.6_Missense_Mutation_p.W63C			Q9Y4G6	TLN2_HUMAN	talin 2	63					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						AAGGGATTTGGCTGGAAGCGG	0.478																																						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.(187-189)tgG>tgT		talin 2							142	131	135					15																	62942335		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.chr15:62942335G>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.189G>T	15.37:g.62942335G>T	ENSP00000453508:p.Trp63Cys		Somatic				TLN2_ENST00000306829.6_Missense_Mutation_p.W63C	p.W63C			WXS	Illumina GAIIx	Phase_I	Q9Y4G6	TLN2_HUMAN			4	419	+			63					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.189G>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747313	0.89663	.	.	ENSG00000171914	ENST00000306829	D	0.90133	-2.62	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.96457	0.8844	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96553	0.9409	10	0.87932	D	0	-10.2661	19.4659	0.94939	0.0:0.0:1.0:0.0	.	63	Q9Y4G6	TLN2_HUMAN	C	63	ENSP00000303476:W63C	ENSP00000303476:W63C	W	+	3	0	TLN2	60729627	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.409000	0.97331	2.840000	0.97914	0.655000	0.94253	TGG		0.478	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			40	6	1	0	1.30998e-17	1	1.43914e-17	40	6					T	62942335	G	T	62942335	3	4	40	1	0	0	0	0	1	0	0	0	15963	1212	42	5	195	5	TLN2	15	62942335	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08		62942335	39589057	45	3894										
MAN2C1	4123	broad.mit.edu	37	chr15	75653473	75653473	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	cccccatccccaaagccaaaGaggaaggcactgtggttggc	11	14	0	1			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr15:75653473G>C	ENST00000267978.5	-	12	1420	c.1374C>G	c.(1372-1374)ctC>ctG	p.L458L	MAN2C1_ENST00000565683.1_Silent_p.L458L|MAN2C1_ENST00000563622.1_Silent_p.L359L|MAN2C1_ENST00000563539.1_5'Flank|MAN2C1_ENST00000569482.1_Silent_p.L458L	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	458					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						CAAAGCCAAAGAGGAAGGCAC	0.647																																						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.(1372-1374)ctC>ctG		mannosidase, alpha, class 2C, member 1							54	57	56					15																	75653473		2197	4294	6491	SO:0001819	synonymous_variant	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75653473G>C	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.1374C>G	15.37:g.75653473G>C			Somatic				MAN2C1_ENST00000563622.1_Silent_p.L359L|MAN2C1_ENST00000267978.5_Silent_p.L458L|MAN2C1_ENST00000569482.1_Silent_p.L458L	p.L458L	NM_001256494.1	NP_001243423.1	WXS	Illumina GAIIx	Phase_I	Q9NTJ4	MA2C1_HUMAN			12	1385	-			458					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Silent	SNP	ENST00000267978.5	37	c.1374C>G	CCDS32298.1																																																																																				0.647	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			12	3	0	0	0	1	0	12	3					C	75653473	G	C	75653473	2	2	40	1	0	0	0	0	0	0	0	1	9227	929	33	2		2	MAN2C1	15	75653473	Silent	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	12711138	75653473	26877919	46	3895										
RPL3L	6123	broad.mit.edu	37	chr16	1995899	1995899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	cccttcagcatgacgaagtcGttgttcacttccccgtagtg	9	13	2	1			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr16:1995899G>A	ENST00000268661.7	-	8	1078	c.984C>T	c.(982-984)aaC>aaT	p.N328N	MSRB1_ENST00000564908.1_5'Flank|MSRB1_ENST00000361871.3_5'Flank|MSRB1_ENST00000399753.2_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	328					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TGACGAAGTCGTTGTTCACTT	0.612																																						ENST00000268661.7																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(982-984)aaC>aaT		ribosomal protein L3-like							142	121	128					16																	1995899		2198	4300	6498	SO:0001819	synonymous_variant	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:1995899G>A	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"L ribosomal proteins"	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.984C>T	16.37:g.1995899G>A			Somatic					p.N328N	NM_005061.2	NP_005052.1	WXS	Illumina GAIIx	Phase_I	Q92901	RL3L_HUMAN			8	1078	-			328						Silent	SNP	ENST00000268661.7	37	c.984C>T	CCDS10450.1																																																																																				0.612	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		22	43	0	0	0	1	0	22	43					A	1995899	G	A	1995899	2	1	40	1	0	0	0	0	0	0	0	1	13609	1136	40	1		1	RPL3L	16	1995899	Silent	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08		1995899	88358854	47	3896										
POLR2A	5430	broad.mit.edu	37	chr17	7414885	7414885	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	ccccgtacgcaccacgtccaAtgacattgtggagatcttca	8	14	2	2			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr17:7414885A>G	ENST00000322644.6	+	24	4478	c.4079A>G	c.(4078-4080)aAt>aGt	p.N1360S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1360					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)				ACCACGTCCAATGACATTGTG	0.592																																						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.(4078-4080)aAt>aGt		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							103	77	86					17																	7414885		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7414885A>G			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.4079A>G	17.37:g.7414885A>G	ENSP00000314949:p.Asn1360Ser		Somatic					p.N1360S	NM_000937.4	NP_000928.1	WXS	Illumina GAIIx	Phase_I	P24928	RPB1_HUMAN			24	4478	+		Prostate(122;0.173)	1360					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.4079A>G	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.827472	0.90955	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.70869	-0.52	4.59	4.59	0.56863	RNA polymerase Rpb1, domain 5 (1);	0.059304	0.64402	D	0.000005	D	0.90082	0.6902	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93523	0.6863	10	0.87932	D	0	-14.8241	13.4186	0.60982	1.0:0.0:0.0:0.0	.	1360	P24928	RPB1_HUMAN	S	1316;259;1360	ENSP00000314949:N1360S	ENSP00000314949:N1360S	N	+	2	0	SLC35G6	7355609	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	8.136000	0.89610	2.073000	0.62155	0.369000	0.22263	AAT		0.592	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		15	3	0	0	0	1	0	15	3					G	7414885	A	G	7414885	3	3	40	1	0	0	0	0	1	0	0	0	12223	101	4	4	4173	4	POLR2A	17	7414885	Missense_Mutation	SNP	A	TCGA-NA-A4QW-01A-11D-A28R-08		7414885	73780325	48	3897										
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	p.R248Q	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	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		36	6	0	0	0	1	0	36	6					T	7577538	C	T	7577538	3	4	40	1	0	0	0	0	1	0	0	0	16396	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08	162653	7577538	73617672	49	3898										
XYLT2	64132	broad.mit.edu	37	chr17	48431783	48431783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	tctcagggaagatgagccccGgcatccagtgggatgagagc	15	10	1	3	rs148860176	byFrequency	TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr17:48431783G>A	ENST00000017003.2	+	3	692	c.643G>A	c.(643-645)Ggc>Agc	p.G215S	XYLT2_ENST00000507602.1_Missense_Mutation_p.G215S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	215					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GATGAGCCCCGGCATCCAGTG	0.667																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(643-645)Ggc>Agc		xylosyltransferase II		G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	29	32	31		643	3.4	1	17	dbSNP_134	31	1,8599	1.2+/-3.3	0,1,4299	no	missense	XYLT2	NM_022167.2	56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	215/866	48431783	2,13004	2203	4300	6503	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48431783G>A	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.643G>A	17.37:g.48431783G>A	ENSP00000017003:p.Gly215Ser		Somatic				XYLT2_ENST00000507602.1_Missense_Mutation_p.G215S	p.G215S	NM_022167.2	NP_071450.2	WXS	Illumina GAIIx	Phase_I	Q9H1B5	XYLT2_HUMAN			3	692	+	Breast(11;7.18e-19)		215					Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.643G>A	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444317	0.25987	2.27E-4	1.16E-4	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.08008	3.69;3.14	4.48	3.43	0.39272	.	0.481763	0.22973	N	0.053407	T	0.05227	0.0139	N	0.19112	0.55	0.09310	N	0.99999	B	0.28512	0.214	B	0.23716	0.048	T	0.37798	-0.9690	10	0.11794	T	0.64	-27.321	13.0062	0.58705	0.0922:0.0:0.9078:0.0	.	215	Q9H1B5	XYLT2_HUMAN	S	215	ENSP00000017003:G215S;ENSP00000426501:G215S	ENSP00000017003:G215S	G	+	1	0	XYLT2	45786782	0.241000	0.23857	0.972000	0.41901	0.910000	0.53928	3.096000	0.50243	2.315000	0.78130	0.313000	0.20887	GGC		0.667	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		33	17	0	0	0	1	0	33	17					A	48431783	G	A	48431783	3	1	40	1	0	0	0	0	1	0	0	0	17479	1116	39	1	653	1	XYLT2	17	48431783	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	40854245	48431783	32763427	50	3899										
PPM1E	4591	broad.mit.edu	37	chr17	57057477	57057477	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	gaggcagtgaaagttgtgtcCgaccacctgaaagagaataa	12	7	0	3	rs140315231		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr17:57057477C>T	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Silent_p.S451S	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						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)					AAGTTGTGTCCGACCACCTGA	0.502									Mulibrey Nanism																													ENST00000308249.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(1351-1353)tcC>tcT		protein phosphatase, Mg2+/Mn2+ dependent, 1E		C		1,4405	2.1+/-5.4	0,1,2202	129	97	108		1353	0.5	1	17	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PPM1E	NM_014906.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		451/756	57057477	2,13004	2203	4300	6503	SO:0001628	intergenic_variant	22843		Familial Cancer Database	Perheentupa syndrome	protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:57057477C>T	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			17.37:g.57057477C>T			Somatic					p.S451S	NM_014906.4	NP_055721.3	WXS	Illumina GAIIx	Phase_I	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		7	1482	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		460			PP2C-like.		Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	ENST00000393066.3	37	c.1353C>T	CCDS45746.1																																																																																				0.502	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445928.1	NM_015294		13	40	0	0	0	1	0	13	40					T	57057477	C	T	57057477	1	4	40	0	1	0	0	0	0	0	0	0	12350	639	23	1		1	PPM1E	17	57057477	IGR	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08	8625694	57057477	24137733	51	3900										
FAM20A	54757	broad.mit.edu	37	chr17	66538939	66538955	+	Splice_Site	DEL	AAGTCCAGAATCCTGCA	AAGTCCAGAATCCTGCA	-													0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	ctgttggcggcacccgtcggAagtccagaatcctgcaagag							TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr17:66538939_66538955delAAGTCCAGAATCCTGCA	ENST00000592554.1	-	6	1535_1546	c.813_824delTGCAGGATTCTGGACTT	c.(811-825)agtgcaggattctgg>agg	p.SAGFW271fs	PRKAR1A_ENST00000588188.2_Intron|AC079210.1_ENST00000600820.1_5'Flank|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	271					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CACCCGTCGGAAGTCCAGAATCCTGCAAGAGAGGAAG	0.521																																						ENST00000592554.1																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9						c.e6-1		family with sequence similarity 20, member A																																				SO:0001630	splice_region_variant	54757					extracellular region		g.chr17:66538939_66538955delAAGTCCAGAATCCTGCA	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.813-1TGCAGGATTCTGGACTT>-	17.37:g.66538939_66538955delAAGTCCAGAATCCTGCA			Somatic				PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	p.R273_splice	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	WXS	Illumina GAIIx	Phase_I	Q96MK3	FA20A_HUMAN			6	1535_1546	-	Breast(10;1.64e-13)		273					B2RN47|B2RN49|Q9UF95	Splice_Site	DEL	ENST00000592554.1	37	c.812_splice	CCDS11679.1																																																																																				0.521	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565	Frame_Shift_Del	30	45						30	45	---	---	---	---	-	66538955	AAGTCCAGAATCCTGCA	-	66538939	8	5	40	1	0	1	0	1	0	0	1	0	5542	246	9	0	825	0	FAM20A	17	66538939	Splice_Site	DEL	AAGTCCAGAATCCTGCA	TCGA-NA-A4QW-01A-11D-A28R-08	9481462	66538939	14656271	52	3901										
DCXR	51181	broad.mit.edu	37	chr17	79994778	79994778	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	ctccaggaagggctgcagcaGggcgacagcggcgttgttca	16	11	1	0			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr17:79994778G>A	ENST00000306869.2	-	3	311	c.262C>T	c.(262-264)Ctg>Ttg	p.L88L	DCXR_ENST00000584318.1_Intron|RP13-650J16.1_ENST00000582558.1_RNA|RP13-650J16.1_ENST00000584705.1_RNA	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	88					D-xylose metabolic process (GO:0042732)|glucose metabolic process (GO:0006006)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|xylulose metabolic process (GO:0005997)	brush border (GO:0005903)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)	L-xylulose reductase (NADP+) activity (GO:0050038)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)			kidney(1)|lung(3)	4	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGCTGCAGCAGGGCGACAGCG	0.687																																						ENST00000306869.2																			0				kidney(1)|lung(3)	4						c.(262-264)Ctg>Ttg		dicarbonyl/L-xylulose reductase							42	37	39					17																	79994778		2203	4300	6503	SO:0001819	synonymous_variant	51181				D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity	g.chr17:79994778G>A	AB013846	CCDS11799.1	17q25.3	2011-09-14				ENSG00000169738	1.1.1.10	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	18985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 20C, member 1"	608347				11882650, 19027726	Standard	NM_016286		Approved	KIDCR, DCR, SDR20C1	uc002kdg.3	Q7Z4W1		ENST00000306869.2:c.262C>T	17.37:g.79994778G>A			Somatic				DCXR_ENST00000584318.1_Intron	p.L88L	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	WXS	Illumina GAIIx	Phase_I	Q7Z4W1	DCXR_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		3	311	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		88					Q9BTZ3|Q9UHY9	Silent	SNP	ENST00000306869.2	37	c.262C>T	CCDS11799.1																																																																																				0.687	DCXR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442153.2			17	14	0	0	0	1	0	17	14					A	79994778	G	A	79994778	2	1	40	1	0	0	0	0	0	0	0	1	4321	991	35	3		3	DCXR	17	79994778	Silent	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	13455839	79994778	1200432	53	3902										
SERPINB10	5273	broad.mit.edu	37	chr18	61585320	61585320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	tgcgatatatggagagaaaaCgtatgcatttcacaatgtaa	9	5	1	1	rs201800135		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr18:61585320C>T	ENST00000238508.3	+	4	415	c.356C>T	c.(355-357)aCg>aTg	p.T119M		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	119					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T119M(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GGAGAGAAAACGTATGCATTT	0.348																																						ENST00000238508.3																			1	Substitution - Missense(1)	p.T119M(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(355-357)aCg>aTg		serpin peptidase inhibitor, clade B (ovalbumin), member 10							103	94	97					18																	61585320		2202	4300	6502	SO:0001583	missense	5273							g.chr18:61585320C>T	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"Serine (or cysteine) peptidase inhibitors"	8942	protein-coding gene	gene with protein product	"protease inhibitor 10 (ovalbumin type, bomapin)"	602058	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.356C>T	18.37:g.61585320C>T	ENSP00000238508:p.Thr119Met		Somatic					p.T119M	NM_005024.1	NP_005015.1	WXS	Illumina GAIIx	Phase_I					4	415	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	c.356C>T	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520585	0.44866	.	.	ENSG00000242550	ENST00000238508	D	0.83506	-1.73	5.83	5.83	0.93111	Serpin domain (3);	0.242512	0.41500	D	0.000877	D	0.92515	0.7623	M	0.90309	3.105	0.37305	D	0.908861	D	0.89917	1.0	D	0.67231	0.95	D	0.94743	0.7920	10	0.87932	D	0	.	17.6197	0.88077	0.0:1.0:0.0:0.0	.	119	P48595	SPB10_HUMAN	M	119	ENSP00000238508:T119M	ENSP00000238508:T119M	T	+	2	0	SERPINB10	59736300	0.439000	0.25610	0.184000	0.23157	0.085000	0.17905	1.600000	0.36762	2.767000	0.95098	0.655000	0.94253	ACG		0.348	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		14	5	0	0	0	1	0	14	5					T	61585320	C	T	61585320	3	4	40	1	0	0	0	0	1	0	0	0	14112	536	19	1	366	1	SERPINB10	18	61585320	Missense_Mutation	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08		61585320	16491928	54	3903										
DHPS	1725	broad.mit.edu	37	chr19	12792434	12792434	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	gcttggaagccggtggtgccGaaggcctccagcagtgcgcg	17	12	0	0			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:12792434G>C	ENST00000210060.7	-	1	282	c.147C>G	c.(145-147)ttC>ttG	p.F49L	DHPS_ENST00000351660.5_Missense_Mutation_p.F49L|DHPS_ENST00000599481.1_5'Flank|CTD-2192J16.26_ENST00000593554.1_lincRNA|DHPS_ENST00000594424.1_5'Flank	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	49					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						CGGTGGTGCCGAAGGCCTCCA	0.632																																						ENST00000210060.7																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(145-147)ttC>ttG		deoxyhypusine synthase	Sulfadoxine(DB01299)						59	60	60					19																	12792434		2203	4300	6503	SO:0001583	missense	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.chr19:12792434G>C	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.147C>G	19.37:g.12792434G>C	ENSP00000210060:p.Phe49Leu		Somatic				DHPS_ENST00000351660.5_Missense_Mutation_p.F49L	p.F49L	NM_001930.3	NP_001921.1	WXS	Illumina GAIIx	Phase_I	P49366	DHYS_HUMAN			1	282	-			49					A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Missense_Mutation	SNP	ENST00000210060.7	37	c.147C>G	CCDS12276.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163283	0.38217	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	T;T	0.42900	0.96;0.96	5.53	3.38	0.38709	.	0.343803	0.32015	N	0.006708	T	0.28863	0.0716	L	0.33339	1.005	0.38094	D	0.937041	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.18871	0.023;0.002;0.002	T	0.10359	-1.0633	10	0.19590	T	0.45	-11.7203	9.2865	0.37760	0.0813:0.1556:0.7631:0.0	.	49;49;49	Q5J8M5;P49366-2;P49366	.;.;DHYS_HUMAN	L	49	ENSP00000210060:F49L;ENSP00000221303:F49L	ENSP00000210060:F49L	F	-	3	2	DHPS	12653434	0.995000	0.38212	0.598000	0.28837	0.266000	0.26442	2.501000	0.45389	0.691000	0.31592	0.313000	0.20887	TTC		0.632	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1	NM_001930		44	8	0	0	0	1	0	44	8					C	12792434	G	C	12792434	3	2	40	1	0	0	0	0	1	0	0	0	4487	1049	37	2	998	2	DHPS	19	12792434	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08		12792434	46336549	55	3904										
OR7A5	26659	broad.mit.edu	37	chr19	14938184	14938184	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	atgtctttattcctcagactAtagataaaggggttcagcat	8	7	3	2	rs200531878		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:14938184A>G	ENST00000322301.3	-	2	957	c.870T>C	c.(868-870)taT>taC	p.Y290Y	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.Y290Y			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	290					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y290Y(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCCTCAGACTATAGATAAAGG	0.478																																						ENST00000322301.3																			2	Substitution - coding silent(2)	p.Y290Y(2)	kidney(2)	breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(868-870)taT>taC		olfactory receptor, family 7, subfamily A, member 5							74	72	72					19																	14938184		2203	4300	6503	SO:0001819	synonymous_variant	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938184A>G	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.870T>C	19.37:g.14938184A>G			Somatic				OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.Y290Y	p.Y290Y			WXS	Illumina GAIIx	Phase_I	Q15622	OR7A5_HUMAN			2	957	-			290					B2R682|Q6IFP1|Q96R96	Silent	SNP	ENST00000322301.3	37	c.870T>C	CCDS12318.1																																																																																				0.478	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		4	91	0	0	0	1	0	4	91					G	14938184	A	G	14938184	2	3	40	1	0	0	0	0	0	0	0	1	11225	456	16	4		4	OR7A5	19	14938184	Silent	SNP	A	TCGA-NA-A4QW-01A-11D-A28R-08	2145750	14938184	44190799	56	3905										
ATP4A	495	broad.mit.edu	37	chr19	36051399	36051399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	ccaccttgcagccctgggccGccaggatgcggatgtcggcg	15	15	0	0			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:36051399G>A	ENST00000262623.3	-	6	681	c.653C>T	c.(652-654)gCg>gTg	p.A218V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	218					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)	p.A218V(1)		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)	GCCCTGGGCCGCCAGGATGCG	0.637																																						ENST00000262623.3																			1	Substitution - Missense(1)	p.A218V(1)	endometrium(1)	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.(652-654)gCg>gTg		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						64	60	61					19																	36051399		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36051399G>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.653C>T	19.37:g.36051399G>A	ENSP00000262623:p.Ala218Val		Somatic					p.A218V	NM_000704.2	NP_000695.2	WXS	Illumina GAIIx	Phase_I	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		6	681	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		218					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.653C>T	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	g	17.98	3.519851	0.64634	.	.	ENSG00000105675	ENST00000262623	D	0.90955	-2.76	4.16	3.11	0.35812	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.516425	0.17470	N	0.173108	D	0.82953	0.5149	L	0.31420	0.93	0.29003	N	0.887347	P	0.35348	0.496	B	0.31390	0.129	T	0.77645	-0.2510	10	0.54805	T	0.06	.	9.8781	0.41216	0.0:0.0:0.7289:0.2711	.	218	P20648	ATP4A_HUMAN	V	218	ENSP00000262623:A218V	ENSP00000262623:A218V	A	-	2	0	ATP4A	40743239	0.023000	0.18921	0.860000	0.33809	0.962000	0.63368	1.969000	0.40510	0.976000	0.38417	0.486000	0.48141	GCG		0.637	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		57	100	0	0	0	1	0	57	100					A	36051399	G	A	36051399	3	1	40	1	0	0	0	0	1	0	0	0	1145	1087	38	1	2522	1	ATP4A	19	36051399	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	21113215	36051399	23077584	57	3906										
ZFP14	57677	broad.mit.edu	37	chr19	36832073	36832073	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	ctcaccggtgtgaagtttgtGatgtcgaataagatgtgcac	12	7	1	3			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:36832073G>A	ENST00000270001.7	-	5	770	c.655C>T	c.(655-657)Cac>Tac	p.H219Y		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	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)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TGAAGTTTGTGATGTCGAATA	0.443																																						ENST00000270001.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26						c.(655-657)Cac>Tac		ZFP14 zinc finger protein							125	113	117					19																	36832073		2203	4300	6503	SO:0001583	missense	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36832073G>A	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"Zinc fingers, C2H2-type", "-"	29312	protein-coding gene	gene with protein product			"zinc finger protein 14 homolog (mouse)"			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.655C>T	19.37:g.36832073G>A	ENSP00000270001:p.His219Tyr		Somatic					p.H219Y	NM_020917.2	NP_065968.1	WXS	Illumina GAIIx	Phase_I	Q9HCL3	ZFP14_HUMAN			5	770	-	Esophageal squamous(110;0.162)		219					A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	c.655C>T	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	g	10.40	1.338816	0.24253	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.07216	3.21	3.85	3.85	0.44370	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000345	T	0.06371	0.0164	N	0.20530	0.585	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.15052	0.012;0.012	T	0.20840	-1.0263	10	0.87932	D	0	.	10.9646	0.47406	0.0:0.0:0.8122:0.1878	.	219;219	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	Y	219	ENSP00000270001:H219Y	ENSP00000270001:H219Y	H	-	1	0	ZFP14	41523913	0.983000	0.35010	1.000000	0.80357	0.990000	0.78478	2.447000	0.44917	2.139000	0.66308	0.549000	0.68633	CAC		0.443	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		30	144	0	0	0	1	0	30	144					A	36832073	G	A	36832073	3	1	40	1	0	0	0	0	1	0	0	0	17654	1290	45	3	950	3	ZFP14	19	36832073	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	780674	36832073	22296910	58	3907										
ZNF781	163115	broad.mit.edu	37	chr19	38160916	38160916	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	tatgttgggtaaggtgggcaCgctttctaaagggctttcca	13	7	1	0			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:38160916C>T	ENST00000590008.1	-	5	986	c.134G>A	c.(133-135)cGt>cAt	p.R45H	ZNF781_ENST00000593040.1_5'Flank|ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Missense_Mutation_p.R45H			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	45					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AAGGTGGGCACGCTTTCTAAA	0.383																																						ENST00000358582.4																			0				NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(133-135)cGt>cAt		zinc finger protein 781							181	175	177					19																	38160916		2203	4300	6503	SO:0001583	missense	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160916C>T	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.134G>A	19.37:g.38160916C>T	ENSP00000466370:p.Arg45His		Somatic				ZNF781_ENST00000590008.1_Missense_Mutation_p.R45H|ZFP30_ENST00000586732.1_Intron	p.R45H	NM_152605.3	NP_689818.2	WXS	Illumina GAIIx	Phase_I	Q8N8C0	ZN781_HUMAN			4	882	-			45					Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	c.134G>A	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	C	0.167	-1.075803	0.01903	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.08370	3.1	2.58	-5.15	0.02866	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04497	0.0123	L	0.31065	0.9	0.09310	N	1	B	0.24426	0.103	B	0.13407	0.009	T	0.30909	-0.9962	9	0.36615	T	0.2	.	2.4171	0.04438	0.1231:0.1378:0.2135:0.5256	.	45	Q8N8C0	ZN781_HUMAN	H	45	ENSP00000351391:R45H	ENSP00000351391:R45H	R	-	2	0	ZNF781	42852756	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.368000	0.02580	-2.454000	0.00540	-1.876000	0.00548	CGT		0.383	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		127	98	0	0	0	1	0	127	98					T	38160916	C	T	38160916	3	4	40	1	0	0	0	0	1	0	0	0	18169	536	19	1	853	1	ZNF781	19	38160916	Missense_Mutation	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08	1328843	38160916	20968067	59	3908										
CKM	1158	broad.mit.edu	37	chr19	45811690	45811690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	ctgcagccctacgcagaagcGgcggaaaacctccttcatgt	10	14	1	1			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:45811690G>A	ENST00000221476.3	-	6	928	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	252	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	ACGCAGAAGCGGCGGAAAACC	0.597																																						ENST00000221476.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(754-756)Cgc>Tgc		creatine kinase, muscle	Creatine(DB00148)						106	84	92					19																	45811690		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45811690G>A	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.754C>T	19.37:g.45811690G>A	ENSP00000221476:p.Arg252Cys		Somatic					p.R252C	NM_001824.4	NP_001815.2	WXS	Illumina GAIIx	Phase_I	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	6	928	-		Ovarian(192;0.0336)|all_neural(266;0.112)	252			Phosphagen kinase C-terminal.		Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.754C>T	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113299	0.94339	.	.	ENSG00000104879	ENST00000221476	T	0.12569	2.67	5.5	5.5	0.81552	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77395	-0.2604	10	0.87932	D	0	-43.9433	16.8863	0.86077	0.0:0.0:1.0:0.0	.	252	P06732	KCRM_HUMAN	C	252	ENSP00000221476:R252C	ENSP00000221476:R252C	R	-	1	0	CKM	50503530	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.084000	0.71335	2.605000	0.88082	0.555000	0.69702	CGC		0.597	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			11	46	0	0	0	1	0	11	46					A	45811690	G	A	45811690	3	1	40	1	0	0	0	0	1	0	0	0	3450	1116	39	1	403	1	CKM	19	45811690	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	7650774	45811690	13317293	60	3909										
NOSIP	51070	broad.mit.edu	37	chr19	50062164	50062164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	tccccatcaccttcatctgcCgggcaatctccttcttctgg	6	17	6	0			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:50062164C>T	ENST00000596358.1	-	4	306	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	NOSIP_ENST00000339093.3_Missense_Mutation_p.R83Q|NOSIP_ENST00000391853.3_Missense_Mutation_p.R83Q	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	83					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		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;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CTTCATCTGCCGGGCAATCTC	0.562																																						ENST00000391853.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11						c.(247-249)cGg>cAg		nitric oxide synthase interacting protein							342	328	333					19																	50062164		2203	4300	6503	SO:0001583	missense	0				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding	g.chr19:50062164C>T	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.248G>A	19.37:g.50062164C>T	ENSP00000470034:p.Arg83Gln		Somatic				NOSIP_ENST00000596358.1_Missense_Mutation_p.R83Q|NOSIP_ENST00000339093.3_Missense_Mutation_p.R83Q	p.R83Q	NM_015953.3	NP_057037.1	WXS	Illumina GAIIx	Phase_I	Q9Y314	NOSIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)	5	399	-		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	83					Q96FD2	Missense_Mutation	SNP	ENST00000596358.1	37	c.248G>A	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034950	0.75617	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T;T	0.75589	-0.95;-0.95	5.24	4.19	0.49359	.	0.069556	0.56097	D	0.000039	T	0.74913	0.3779	M	0.68593	2.085	0.49483	D	0.999796	D	0.60575	0.988	P	0.45506	0.483	T	0.78715	-0.2096	10	0.72032	D	0.01	-23.0032	14.0498	0.64730	0.1525:0.8475:0.0:0.0	.	83	Q9Y314	NOSIP_HUMAN	Q	83	ENSP00000343497:R83Q;ENSP00000375726:R83Q	ENSP00000343497:R83Q	R	-	2	0	NOSIP	54753976	1.000000	0.71417	0.998000	0.56505	0.639000	0.38242	3.858000	0.55979	1.173000	0.42796	0.462000	0.41574	CGG		0.562	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1			15	428	0	0	0	1	0	15	428					T	50062164	C	T	50062164	3	4	40	1	0	0	0	0	1	0	0	0	10554	652	23	1	681	1	NOSIP	19	50062164	Missense_Mutation	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08	4250474	50062164	9066819	61	3910										
PPP2R1A	5518	broad.mit.edu	37	chr19	52715983	52715983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	tgacacccccatggtgcggcGggccgcagcctccaagctgg	14	16	0	1			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:52715983G>A	ENST00000322088.6	+	5	606	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128Q|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4Q	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R183Q(10)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ATGGTGCGGCGGGCCGCAGCC	0.617			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		10	Substitution - Missense(10)	p.R183Q(10)	ovary(6)|endometrium(2)|prostate(1)|large_intestine(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(547-549)cGg>cAg		protein phosphatase 2, regulatory subunit A, alpha							75	60	65					19																	52715983		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715983G>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.548G>A	19.37:g.52715983G>A	ENSP00000324804:p.Arg183Gln		Somatic				PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128Q|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4Q	p.R183Q	NM_014225.5	NP_055040.2	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	606	+			183			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.548G>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	36	5.603708	0.96626	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06294	3.32;3.32	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.114427	0.37136	N	0.002231	T	0.36690	0.0976	H	0.96333	3.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.72982	0.979;0.859;0.859	T	0.55218	-0.8175	10	0.87932	D	0	-15.4468	15.1188	0.72426	0.0:0.0:1.0:0.0	.	128;183;183	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	Q	173;103;183;128	ENSP00000324804:R183Q;ENSP00000415067:R128Q	ENSP00000324804:R183Q	R	+	2	0	PPP2R1A	57407795	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.489000	0.90461	2.503000	0.84419	0.655000	0.94253	CGG		0.617	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		91	12	0	0	0	1	0	91	12					A	52715983	G	A	52715983	3	1	40	1	0	0	0	0	1	0	0	0	12394	1116	39	1	566	1	PPP2R1A	19	52715983	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	2653819	52715983	6413000	62	3911										
TGM6	343641	broad.mit.edu	37	chr20	2411210	2411210	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	ggagagaagcttctggtggaGaaggacattactctagagga	15	5	2	3			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr20:2411210G>T	ENST00000202625.2	+	11	1858	c.1797G>T	c.(1795-1797)gaG>gaT	p.E599D	TGM6_ENST00000381423.1_Missense_Mutation_p.E599D	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	599					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TTCTGGTGGAGAAGGACATTA	0.502																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(1795-1797)gaG>gaT		transglutaminase 6	L-Glutamine(DB00130)						94	77	83					20																	2411210		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2411210G>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1797G>T	20.37:g.2411210G>T	ENSP00000202625:p.Glu599Asp		Somatic				TGM6_ENST00000381423.1_Missense_Mutation_p.E599D	p.E599D	NM_198994.2	NP_945345.2	WXS	Illumina GAIIx	Phase_I	O95932	TGM3L_HUMAN			11	1858	+			599					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1797G>T	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185296	0.57909	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.66815	-0.23;-0.23	5.88	5.88	0.94601	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.265029	0.39544	N	0.001329	T	0.76018	0.3929	L	0.49778	1.585	0.39855	D	0.973296	D;D	0.71674	0.998;0.994	D;D	0.66847	0.947;0.926	T	0.73424	-0.3987	10	0.32370	T	0.25	-39.9737	15.728	0.77777	0.0:0.0:1.0:0.0	.	599;599	O95932-2;O95932	.;TGM3L_HUMAN	D	599	ENSP00000202625:E599D;ENSP00000370831:E599D	ENSP00000202625:E599D	E	+	3	2	TGM6	2359210	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.268000	0.43338	2.778000	0.95560	0.655000	0.94253	GAG		0.502	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		24	23	1	0	6.36457e-07	1	6.53206e-07	24	23					T	2411210	G	T	2411210	3	4	40	1	0	0	0	0	1	0	0	0	15849	933	33	2	1839	2	TGM6	20	2411210	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08		2411210	60614310	63	3912										
ATRN	8455	broad.mit.edu	37	chr20	3614997	3614997	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	ctggtggctgctgtggtttgGaagatcaaacaaagttgttg	14	5	1	1			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr20:3614997G>C	ENST00000262919.5	+	26	3971	c.3903G>C	c.(3901-3903)tgG>tgC	p.W1301C		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1301					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						CTGTGGTTTGGAAGATCAAAC	0.458																																						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.(3901-3903)tgG>tgC		attractin							138	121	127					20																	3614997		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3614997G>C	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.3903G>C	20.37:g.3614997G>C	ENSP00000262919:p.Trp1301Cys		Somatic					p.W1301C	NM_139321.2	NP_647537.1	WXS	Illumina GAIIx	Phase_I	O75882	ATRN_HUMAN			26	3971	+			1301					A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.3903G>C	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417029	0.83449	.	.	ENSG00000088812	ENST00000262919	T	0.50277	0.75	5.69	5.69	0.88448	.	0.140352	0.56097	D	0.000034	T	0.74412	0.3713	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78553	-0.2160	10	0.87932	D	0	-9.9989	18.5913	0.91214	0.0:0.0:1.0:0.0	.	1301	O75882	ATRN_HUMAN	C	1301	ENSP00000262919:W1301C	ENSP00000262919:W1301C	W	+	3	0	ATRN	3562997	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.405000	0.97313	2.677000	0.91161	0.655000	0.94253	TGG		0.458	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		11	66	0	0	0	1	0	11	66					C	3614997	G	C	3614997	3	2	40	1	0	0	0	0	1	0	0	0	1206	1183	41	2	4027	2	ATRN	20	3614997	Missense_Mutation	SNP	G	TCGA-NA-A4QW-01A-11D-A28R-08	1203787	3614997	59410523	64	3913										
DIP2A	23181	broad.mit.edu	37	chr21	47961709	47961709	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	cacctccaagaaaagcagtcCtgtcgatgaacggtctaagt	9	11	1	2			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr21:47961709C>A	ENST00000417564.2	+	18	2098	c.2077C>A	c.(2077-2079)Ctg>Atg	p.L693M	DIP2A_ENST00000427143.2_Missense_Mutation_p.L629M|DIP2A_ENST00000400274.1_Missense_Mutation_p.L689M|DIP2A_ENST00000435722.3_Missense_Mutation_p.L693M|DIP2A_ENST00000318711.7_Missense_Mutation_p.L694M|DIP2A_ENST00000466639.1_Missense_Mutation_p.L650M|DIP2A_ENST00000457905.3_Missense_Mutation_p.L693M			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	693					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)		AAAAGCAGTCCTGTCGATGAA	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.(2080-2082)Ctg>Atg		DIP2 disco-interacting protein 2 homolog A (Drosophila)							124	125	125					21																	47961709		1941	4142	6083	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47961709C>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.2077C>A	21.37:g.47961709C>A	ENSP00000392066:p.Leu693Met		Somatic				DIP2A_ENST00000427143.2_Missense_Mutation_p.L629M|DIP2A_ENST00000417564.2_Missense_Mutation_p.L693M|DIP2A_ENST00000400274.1_Missense_Mutation_p.L689M|DIP2A_ENST00000457905.3_Missense_Mutation_p.L693M|DIP2A_ENST00000435722.3_Missense_Mutation_p.L693M|DIP2A_ENST00000466639.1_Missense_Mutation_p.L650M	p.L694M	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	2263	+	Breast(49;0.0933)		693					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.2080C>A	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777083	0.31411	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82;2.82	5.36	3.34	0.38264	AMP-dependent synthetase/ligase (1);	0.087210	0.47852	D	0.000219	T	0.30135	0.0755	M	0.83312	2.635	0.47441	D	0.999426	D;P;D;D;D;P;B	0.89917	0.999;0.472;1.0;0.985;1.0;0.797;0.243	D;B;D;D;D;P;B	0.91635	0.986;0.38;0.999;0.983;0.998;0.61;0.197	T	0.02411	-1.1163	10	0.66056	D	0.02	-7.4869	5.9547	0.19267	0.0:0.6192:0.0:0.3808	.	694;629;650;629;693;693;693	E9PER1;E7EMA5;Q14689-3;B4E0F0;Q14689;Q14689-4;Q14689-2	.;.;.;.;DIP2A_HUMAN;.;.	M	689;629;694;650;693;650;693;693	ENSP00000383133:L689M;ENSP00000400528:L629M;ENSP00000323633:L694M;ENSP00000393434:L693M;ENSP00000430249:L650M;ENSP00000415089:L693M;ENSP00000392066:L693M	ENSP00000323633:L694M	L	+	1	2	DIP2A	46786137	0.100000	0.21855	0.947000	0.38551	0.041000	0.13682	0.534000	0.23098	1.110000	0.41699	0.650000	0.86243	CTG		0.488	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		19	31	1	0	1.56452e-12	1	1.6949e-12	19	31					A	47961709	C	A	47961709	3	1	40	1	0	0	0	0	1	0	0	0	4529	680	24	5	2147	5	DIP2A	21	47961709	Missense_Mutation	SNP	C	TCGA-NA-A4QW-01A-11D-A28R-08		47961709	168186	65	3914										
TXN2	25828	broad.mit.edu	37	chr22	36872876	36872876	+	Frame_Shift_Del	DEL	C	C	-													0.166666666666667	11	0.654970286757272	1.59923076923077	3.63461538461538	1.21153846153846	0.428307982231794	1	0	accatcttctctaacctcggCcccaggatcttgcagggtcc							TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr22:36872876delC	ENST00000216185.2	-	3	757	c.291delG	c.(289-291)gggfs	p.G97fs	TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Frame_Shift_Del_p.G97fs|TXN2_ENST00000487725.1_5'UTR			Q99757	THIOM_HUMAN	thioredoxin 2	97	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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)			breast(1)|lung(1)|prostate(1)	3						CTAACCTCGGCCCCAGGATCT	0.547																																						ENST00000216185.2																			0				breast(1)|lung(1)|prostate(1)	3						c.(289-291)ggfs		thioredoxin 2							182	145	158					22																	36872876		2203	4300	6503	SO:0001589	frameshift_variant	25828				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity	g.chr22:36872876delC	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.291delG	22.37:g.36872876delC	ENSP00000216185:p.Gly97fs		Somatic				TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Frame_Shift_Del_p.G97fs|TXN2_ENST00000487725.1_5'UTR	p.G97fs			WXS	Illumina GAIIx	Phase_I	Q99757	THIOM_HUMAN			3	757	-			97			Thioredoxin.		Q5JZA0|Q6FH60|Q9UH29	Frame_Shift_Del	DEL	ENST00000216185.2	37	c.291delG	CCDS13928.1																																																																																				0.547	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319016.1	NM_012473		57	147						57	147	---	---	---	---	-	36872876	C	-	36872876	7	5	40	1	0	1	0	1	0	0	0	0	16806	726	26	0	217	0	TXN2	22	36872876	Frame_Shift_Del	DEL	C	TCGA-NA-A4QW-01A-11D-A28R-08		36872876	14431690	66	3915										
FUCA1	2517	broad.mit.edu	37	chr1	24186288	24186288	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	gaagtcatataatcacatacCttgacagggctgtcattgta	8	8	3	1			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr1:24186288C>T	ENST00000374479.3	-	4	775	c.768G>A	c.(766-768)aaG>aaA	p.K256K		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	256					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		AATCACATACCTTGACAGGGC	0.413																																						ENST00000374479.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8						c.e4+1		fucosidase, alpha-L- 1, tissue							83	79	80					1																	24186288		2203	4300	6503	SO:0001630	splice_region_variant	2517				fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	g.chr1:24186288C>T	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.768+1G>A	1.37:g.24186288C>T			Somatic					p.K256_splice	NM_000147.4	NP_000138.2	WXS	Illumina GAIIx	Phase_I	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	4	775	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	256					B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Splice_Site	SNP	ENST00000374479.3	37	c.768_splice	CCDS244.2																																																																																				0.413	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147	Silent	8	27	0	0	0	1	0	8	27					T	24186288	C	T	24186288	5	4	41	1	0	0	0	0	0	0	1	0	6102	695	24	3	652	3	FUCA1	1	24186288	Splice_Site	SNP	C	TCGA-NA-A4QX-01A-11D-A28R-08		24186288	225064333	1	3916										
C2orf16	84226	broad.mit.edu	37	chr2	27799908	27799908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	tttcaataccaatttatcacGccacagaatcttcagaaatg	4	10	4	2			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr2:27799908G>A	ENST00000408964.2	+	1	520	c.469G>A	c.(469-471)Gcc>Acc	p.A157T		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	157						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)					AATTTATCACGCCACAGAATC	0.403																																						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.(469-471)Gcc>Acc		chromosome 2 open reading frame 16							75	70	71					2																	27799908		1877	4109	5986	SO:0001583	missense	84226							g.chr2:27799908G>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.469G>A	2.37:g.27799908G>A	ENSP00000386190:p.Ala157Thr		Somatic					p.A157T	NM_032266.3	NP_115642.3	WXS	Illumina GAIIx	Phase_I	Q68DN1	CB016_HUMAN			1	520	+	Acute lymphoblastic leukemia(172;0.155)		157					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.469G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	8.377	0.836543	0.16891	.	.	ENSG00000221843	ENST00000408964	T	0.05382	3.45	3.81	-2.05	0.07321	.	.	.	.	.	T	0.02688	0.0081	N	0.14661	0.345	0.09310	N	1	B	0.24618	0.107	B	0.11329	0.006	T	0.47799	-0.9089	9	0.12766	T	0.61	.	3.7031	0.08390	0.5208:0.0:0.2955:0.1837	.	157	Q68DN1	CB016_HUMAN	T	157	ENSP00000386190:A157T	ENSP00000386190:A157T	A	+	1	0	C2orf16	27653412	.	.	0.000000	0.03702	0.083000	0.17756	.	.	-0.288000	0.09051	0.563000	0.77884	GCC		0.403	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		14	63	0	0	0	1	0	14	63					A	27799908	G	A	27799908	3	1	41	1	0	0	0	0	1	0	0	0	2159	1087	38	1	471	1	C2orf16	2	27799908	Missense_Mutation	SNP	G	TCGA-NA-A4QX-01A-11D-A28R-08		27799908	215399465	2	3917										
TTN	7273	broad.mit.edu	37	chr2	179478877	179478877	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	agatgtactctttattggggAttaatttggtggccttgaag	12	4	1	2			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr2:179478877A>T	ENST00000591111.1	-	212	44548	c.44324T>A	c.(44323-44325)aTc>aAc	p.I14775N	TTN_ENST00000342175.6_Missense_Mutation_p.I7543N|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I7476N|TTN_ENST00000460472.2_Missense_Mutation_p.I7351N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I16416N|TTN_ENST00000342992.6_Missense_Mutation_p.I13848N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14775	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTATTGGGGATTAATTTGGT	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.(49246-49248)aTc>aAc		titin							160	150	153					2																	179478877		1913	4129	6042	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179478877A>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.44324T>A	2.37:g.179478877A>T	ENSP00000465570:p.Ile14775Asn		Somatic				TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I13848N|TTN_ENST00000342175.6_Missense_Mutation_p.I7543N|TTN_ENST00000591111.1_Missense_Mutation_p.I14775N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I7476N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I7351N|TTN-AS1_ENST00000456053.1_RNA	p.I16416N	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)		262	49471	-			14775			Ig-like 100.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.49247T>A		.	.	.	.	.	.	.	.	.	.	A	9.213	1.031351	0.19590	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	6.07	-2.13	0.07144	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42630	0.1211	L	0.38692	1.165	0.18873	N	0.999984	B;B;B;B	0.21381	0.055;0.055;0.055;0.055	B;B;B;B	0.21546	0.018;0.018;0.035;0.035	T	0.44832	-0.9302	9	0.87932	D	0	.	13.3447	0.60566	0.4058:0.0:0.5942:0.0	.	7351;7476;7543;14775	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	13848;7351;7543;7476;7351	ENSP00000343764:I13848N;ENSP00000434586:I7351N;ENSP00000340554:I7543N;ENSP00000352154:I7476N	ENSP00000340554:I7543N	I	-	2	0	TTN	179187122	0.737000	0.28175	0.870000	0.34147	0.831000	0.47069	0.464000	0.21988	-0.301000	0.08882	-0.250000	0.11733	ATC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	8	0	0	0	1	0	8	8					T	179478877	A	T	179478877	3	4	41	1	0	0	0	0	1	0	0	0	16750	333	12	4	58850	4	TTN	2	179478877	Missense_Mutation	SNP	A	TCGA-NA-A4QX-01A-11D-A28R-08	151678969	179478877	63720496	3	3918										
TSEN2	80746	broad.mit.edu	37	chr3	12531437	12531437	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	ttccgtgctgaaatgattaaCaacaatgtgattgtgaggaa	10	5	0	4			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr3:12531437C>T	ENST00000284995.6	+	2	525	c.138C>T	c.(136-138)aaC>aaT	p.N46N	TSEN2_ENST00000314571.7_Silent_p.N46N|TSEN2_ENST00000454502.2_Silent_p.N46N|TSEN2_ENST00000415684.1_Silent_p.N46N|TSEN2_ENST00000383797.5_Silent_p.N46N|TSEN2_ENST00000402228.3_Silent_p.N46N|TSEN2_ENST00000444864.1_Silent_p.N46N	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	46					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						AAATGATTAACAACAATGTGA	0.443																																						ENST00000444864.1																			0				central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						c.(136-138)aaC>aaT		TSEN2 tRNA splicing endonuclease subunit							130	123	126					3																	12531437		2203	4300	6503	SO:0001819	synonymous_variant	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12531437C>T	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"tRNA splicing endonuclease subunits"	28422	protein-coding gene	gene with protein product		608753	"tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)", "tRNA splicing endonuclease 2 homolog (S. cerevisiae)"			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.138C>T	3.37:g.12531437C>T			Somatic				TSEN2_ENST00000415684.1_Silent_p.N46N|TSEN2_ENST00000402228.3_Silent_p.N46N|TSEN2_ENST00000314571.7_Silent_p.N46N|TSEN2_ENST00000284995.6_Silent_p.N46N|TSEN2_ENST00000454502.2_Silent_p.N46N|TSEN2_ENST00000383797.5_Silent_p.N46N	p.N46N	NM_001145395.1	NP_001138867.1	WXS	Illumina GAIIx	Phase_I	Q8NCE0	SEN2_HUMAN			2	525	+			46					B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Silent	SNP	ENST00000284995.6	37	c.138C>T	CCDS2611.1																																																																																				0.443	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		39	52	0	0	0	1	0	39	52					T	12531437	C	T	12531437	2	4	41	1	0	0	0	0	0	0	0	1	16627	477	17	3		3	TSEN2	3	12531437	Silent	SNP	C	TCGA-NA-A4QX-01A-11D-A28R-08		12531437	185490993	4	3919										
SCN10A	6336	broad.mit.edu	37	chr3	38738892	38738892	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	tggcttcatcttcattttgtAttgagctagatgtcctcatg	8	8	4	2			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr3:38738892A>G	ENST00000449082.2	-	27	5818	c.5819T>C	c.(5818-5820)aTa>aCa	p.I1940T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1940					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)	TTCATTTTGTATTGAGCTAGA	0.478																																						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.(5818-5820)aTa>aCa		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)						153	133	140					3																	38738892		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38738892A>G	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.5819T>C	3.37:g.38738892A>G	ENSP00000390600:p.Ile1940Thr		Somatic					p.I1940T	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)	27	5818	-			1940					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.5819T>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	0.672	-0.801466	0.02841	.	.	ENSG00000185313	ENST00000449082	D	0.95342	-3.68	5.38	3.0	0.34707	.	1.005880	0.08000	N	0.988603	D	0.84929	0.5581	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.18871	0.023	T	0.74372	-0.3687	10	0.20046	T	0.44	.	3.3436	0.07127	0.6438:0.1461:0.082:0.1282	.	1940	Q9Y5Y9	SCNAA_HUMAN	T	1940	ENSP00000390600:I1940T	ENSP00000390600:I1940T	I	-	2	0	SCN10A	38713896	0.000000	0.05858	0.029000	0.17559	0.979000	0.70002	0.724000	0.25954	1.068000	0.40764	0.533000	0.62120	ATA		0.478	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		24	64	0	0	0	1	0	24	64					G	38738892	A	G	38738892	3	3	41	1	0	0	0	0	1	0	0	0	13927	449	16	4	55	4	SCN10A	3	38738892	Missense_Mutation	SNP	A	TCGA-NA-A4QX-01A-11D-A28R-08	26207455	38738892	159283538	5	3920										
TIGIT	201633	broad.mit.edu	37	chr3	114014628	114014628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	tcaccctccagtcgctgaccGtgaacgatacaggggagtac	11	13	1	2	rs207463547		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr3:114014628G>A	ENST00000486257.1	+	3	555	c.298G>A	c.(298-300)Gtg>Atg	p.V100M	TIGIT_ENST00000383671.3_Missense_Mutation_p.V100M|TIGIT_ENST00000481065.1_Missense_Mutation_p.V167M			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	100	Ig-like V-type.				negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GTCGCTGACCGTGAACGATAC	0.567																																						ENST00000481065.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(499-501)Gtg>Atg		T cell immunoreceptor with Ig and ITIM domains							79	74	76					3																	114014628		2203	4300	6503	SO:0001583	missense	201633				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	g.chr3:114014628G>A	AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"Immunoglobulin superfamily / V-set domain containing"	26838	protein-coding gene	gene with protein product		612859	"V-set and immunoglobulin domain containing 9", "V-set and transmembrane domain containing 3"	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.298G>A	3.37:g.114014628G>A	ENSP00000419085:p.Val100Met		Somatic				TIGIT_ENST00000383671.3_Missense_Mutation_p.V100M|TIGIT_ENST00000486257.1_Missense_Mutation_p.V100M	p.V167M			WXS	Illumina GAIIx	Phase_I	Q495A1	TIGIT_HUMAN			3	3114	+			100					Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	ENST00000486257.1	37	c.499G>A	CCDS2980.1	.	.	.	.	.	.	.	.	.	.	A	2.323	-0.355139	0.05138	.	.	ENSG00000181847	ENST00000461158;ENST00000481065;ENST00000486257;ENST00000383671;ENST00000484319	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	4.71	-0.251	0.13003	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.344910	0.01447	N	0.015324	T	0.53546	0.1803	L	0.42245	1.32	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21008	-1.0258	10	0.16420	T	0.52	5.3361	9.0217	0.36204	0.465:0.0:0.535:0.0	.	100	Q495A1	TIGIT_HUMAN	M	79;167;100;100;79	ENSP00000418917:V79M;ENSP00000420552:V167M;ENSP00000419085:V100M;ENSP00000373167:V100M;ENSP00000419706:V79M	ENSP00000373167:V100M	V	+	1	0	TIGIT	115497318	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	-0.542000	0.06091	-0.138000	0.11434	-0.361000	0.07541	GTG		0.567	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		42	49	0	0	0	1	0	42	49					A	114014628	G	A	114014628	3	1	41	1	0	0	0	0	1	0	0	0	15917	1145	40	1	304	1	TIGIT	3	114014628	Missense_Mutation	SNP	G	TCGA-NA-A4QX-01A-11D-A28R-08	75275736	114014628	84007802	6	3921										
COL6A6	131873	broad.mit.edu	37	chr3	130284093	130284093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	ttctccccgaactgggaaggCctatactggagctgccatca	10	13	2	0			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr3:130284093C>T	ENST00000358511.6	+	3	948	c.917C>T	c.(916-918)gCc>gTc	p.A306V	COL6A6_ENST00000453409.2_Missense_Mutation_p.A306V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	306	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)		p.A306D(1)		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						ACTGGGAAGGCCTATACTGGA	0.478																																						ENST00000358511.6																			1	Substitution - Missense(1)	p.A306D(1)	large_intestine(1)	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.(916-918)gCc>gTc		collagen, type VI, alpha 6							71	73	72					3																	130284093		1860	4101	5961	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130284093C>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.917C>T	3.37:g.130284093C>T	ENSP00000351310:p.Ala306Val		Somatic				COL6A6_ENST00000453409.2_Missense_Mutation_p.A306V	p.A306V	NM_001102608.1	NP_001096078.1	WXS	Illumina GAIIx	Phase_I	A6NMZ7	CO6A6_HUMAN			3	948	+			306			Nonhelical region.|VWFA 2.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.917C>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041759	0.55003	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.78364	-1.17;-1.17	5.01	5.01	0.66863	von Willebrand factor, type A (3);	0.099840	0.44483	D	0.000448	T	0.77705	0.4170	L	0.51914	1.62	0.37109	D	0.900279	P	0.37061	0.58	B	0.41723	0.365	T	0.81876	-0.0731	10	0.51188	T	0.08	.	18.2742	0.90078	0.0:1.0:0.0:0.0	.	306	A6NMZ7	CO6A6_HUMAN	V	306	ENSP00000351310:A306V;ENSP00000399236:A306V	ENSP00000351310:A306V	A	+	2	0	COL6A6	131766783	0.996000	0.38824	0.857000	0.33713	0.021000	0.10359	5.527000	0.67123	2.492000	0.84095	0.561000	0.74099	GCC		0.478	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		49	69	0	0	0	1	0	49	69					T	130284093	C	T	130284093	3	4	41	1	0	0	0	0	1	0	0	0	3705	739	26	3	927	3	COL6A6	3	130284093	Missense_Mutation	SNP	C	TCGA-NA-A4QX-01A-11D-A28R-08	16269465	130284093	67738337	7	3922										
FBXW7	55294	broad.mit.edu	37	chr4	153247288	153247288	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	tgccatcatattgaacacagCggactgctgcaacatgaccc	8	13	1	2			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr4:153247288C>A	ENST00000281708.4	-	10	2743	c.1514G>T	c.(1513-1515)cGc>cTc	p.R505L	FBXW7_ENST00000296555.5_Missense_Mutation_p.R387L|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505L|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425L|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329L|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505L(7)|p.R505H(5)|p.R266L(1)|p.R266H(1)|p.?(1)|p.R505P(1)|p.R425H(1)|p.R425L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTGAACACAGCGGACTGCTGC	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		18	Substitution - Missense(17)|Unknown(1)	p.R505L(7)|p.R505H(5)|p.R266L(1)|p.R266H(1)|p.?(1)|p.R505P(1)|p.R425H(1)|p.R425L(1)	large_intestine(9)|upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(2)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1513-1515)cGc>cTc		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							169	159	163					4																	153247288		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247288C>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1514G>T	4.37:g.153247288C>A	ENSP00000281708:p.Arg505Leu		Somatic				FBXW7_ENST00000603548.1_Missense_Mutation_p.R505L|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505L|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329L|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425L|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387L	p.R505L	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			10	2743	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1514G>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004722	0.74932	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.72	4.87	0.63330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.62332	0.2419	N	0.13299	0.325	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	0.70249	-0.4924	10	0.87932	D	0	-12.0024	16.4274	0.83818	0.1326:0.8674:0.0:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	L	505;387;425;329	ENSP00000281708:R505L;ENSP00000296555:R387L;ENSP00000263981:R425L;ENSP00000377528:R329L	ENSP00000263981:R425L	R	-	2	0	FBXW7	153466738	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	7.744000	0.85034	1.533000	0.49186	-0.188000	0.12872	CGC		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			17	47	1	0	4.14922e-12	1	4.55402e-12	17	47					A	153247288	C	A	153247288	3	1	41	1	0	0	0	0	1	0	0	0	5777	768	27	5	621	5	FBXW7	4	153247288	Missense_Mutation	SNP	C	TCGA-NA-A4QX-01A-11D-A28R-08		153247288	37906988	8	3923										
SLC1A3	6507	broad.mit.edu	37	chr5	36686177	36686177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	ctgcctgcagggatcgcctcCggaccaccaccaacgtactg	10	17	0	0			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr5:36686177C>T	ENST00000265113.4	+	10	1911	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.R434W	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	479					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGATCGCCTCCGGACCACCAC	0.552																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(1435-1437)Cgg>Tgg		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)						69	70	69					5																	36686177		2203	4300	6503	SO:0001583	missense	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36686177C>T		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"Solute carriers"	10941	protein-coding gene	gene with protein product	"glutamate transporter variant EAAT1ex9skip"	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.1435C>T	5.37:g.36686177C>T	ENSP00000265113:p.Arg479Trp		Somatic				SLC1A3_ENST00000381918.3_Missense_Mutation_p.R434W|CTD-2353F22.1_ENST00000510740.1_RNA	p.R479W	NM_004172.4	NP_004163.3	WXS	Illumina GAIIx	Phase_I	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1911	+	all_lung(31;0.000245)		479					B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	c.1435C>T	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	C	35	5.530515	0.96446	.	.	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	T;T	0.67345	-0.26;-0.11	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.89770	0.6811	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93402	0.6761	10	0.87932	D	0	-7.8942	19.6689	0.95903	0.0:1.0:0.0:0.0	.	434;479	Q4JCQ8;P43003	.;EAA1_HUMAN	W	479;427;434	ENSP00000265113:R479W;ENSP00000371343:R434W	ENSP00000265113:R479W	R	+	1	2	SLC1A3	36721934	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.007000	0.70731	2.642000	0.89623	0.655000	0.94253	CGG		0.552	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		30	85	0	0	0	1	0	30	85					T	36686177	C	T	36686177	3	4	41	1	0	0	0	0	1	0	0	0	14448	643	23	1	1486	1	SLC1A3	5	36686177	Missense_Mutation	SNP	C	TCGA-NA-A4QX-01A-11D-A28R-08		36686177	144229083	9	3924										
PIK3R1	5295	broad.mit.edu	37	chr5	67589579	67589596	+	In_Frame_Del	DEL	AAATTACATGAATATAAC	AAATTACATGAATATAAC	-													0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	atattgaagctgtagggaaaAaattacatgaatataacact					rs17852841		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr5:67589579_67589596delAAATTACATGAATATAAC	ENST00000521381.1	+	11	1958_1975	c.1342_1359delAAATTACATGAATATAAC	c.(1342-1359)aaattacatgaatataacdel	p.KLHEYN448del	PIK3R1_ENST00000336483.5_In_Frame_Del_p.KLHEYN178del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.KLHEYN85del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.KLHEYN448del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.KLHEYN148del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.KLHEYN448del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.KLHEYN448del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	448					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.N453_T454insN(3)|p.H450_E451del(2)|p.L449fs*3(1)|p.Y152N(1)|p.T454_D464del(1)|p.Y452_Q455>SGGSRIK(1)|p.L449S(1)|p.?(1)|p.G446_Y452>VI(1)|p.Y452N(1)|p.T454_Q455>Q(1)|p.E451_Y452del(1)|p.E451_Y452delEY(1)|p.K448_L449>I(1)|p.Y182N(1)|p.453_454insN(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TGTAGGGAAAAAATTACATGAATATAACACTCAGTTTC	0.266			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		20	Deletion - In frame(5)|Insertion - In frame(4)|Complex - deletion inframe(4)|Substitution - Missense(4)|Insertion - Frameshift(1)|Unknown(1)|Whole gene deletion(1)	p.N453_T454insN(3)|p.H450_E451del(2)|p.L449fs*3(1)|p.Y152N(1)|p.T454_D464del(1)|p.Y452_Q455>SGGSRIK(1)|p.L449S(1)|p.?(1)|p.G446_Y452>VI(1)|p.Y452N(1)|p.T454_Q455>Q(1)|p.E451_Y452del(1)|p.E451_Y452delEY(1)|p.K448_L449>I(1)|p.Y182N(1)|p.453_454insN(1)|p.0?(1)	endometrium(6)|central_nervous_system(5)|breast(4)|large_intestine(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1342-1359)del		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589579_67589596delAAATTACATGAATATAAC	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1342_1359delAAATTACATGAATATAAC	5.37:g.67589579_67589596delAAATTACATGAATATAAC	ENSP00000428056:p.Lys448_Asn453del	TCGA GBM(4;<1E-08)	Somatic				PIK3R1_ENST00000523872.1_In_Frame_Del_p.KLHEYN85del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.KLHEYN448del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.KLHEYN178del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.KLHEYN448del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.KLHEYN448del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.KLHEYN148del	p.KLHEYN448del	NM_181523.2	NP_852664.1	WXS	Illumina GAIIx	Phase_I	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	1958_1975	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	448					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1342_1359delAAATTACATGAATATAAC	CCDS3993.1																																																																																				0.266	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		8	25						8	25	---	---	---	---	-	67589596	AAATTACATGAATATAAC	-	67589579	7	5	41	1	0	1	0	1	0	0	0	0	11927	15	1	0	1510	0	PIK3R1	5	67589579	In_Frame_Del	DEL	AAATTACATGAATATAAC	TCGA-NA-A4QX-01A-11D-A28R-08	30903402	67589579	113325681	10	3925										
PCDHB10	56126	broad.mit.edu	37	chr5	140573707	140573707	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	acgaggccctgcaggctttcGagttccgcgtgggcgccaca	14	14	0	0	rs17844576		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr5:140573707G>T	ENST00000239446.4	+	1	1766	c.1582G>T	c.(1582-1584)Gag>Tag	p.E528*		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(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)			GCAGGCTTTCGAGTTCCGCGT	0.692																																						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.(1582-1584)Gag>Tag									78	96	90					5																	140573707		2203	4300	6503	SO:0001587	stop_gained	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573707G>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1582G>T	5.37:g.140573707G>T	ENSP00000239446:p.Glu528*		Somatic					p.E528*	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	1766	+			528			Cadherin 5.		Q96T99	Nonsense_Mutation	SNP	ENST00000239446.4	37	c.1582G>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	37	6.056170	0.97241	.	.	ENSG00000120324	ENST00000239446	.	.	.	3.53	2.56	0.30785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.4831	0.11776	0.1629:0.4101:0.427:0.0	.	.	.	.	X	528	.	ENSP00000239446:E528X	E	+	1	0	PCDHB10	140553891	0.000000	0.05858	0.998000	0.56505	0.965000	0.64279	-0.464000	0.06688	1.994000	0.58287	0.549000	0.68633	GAG		0.692	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		21	328	1	0	1.55795e-14	1	1.75269e-14	21	328					T	140573707	G	T	140573707	4	4	41	1	0	0	0	0	0	1	0	0	11544	1059	37	2	1584	2	PCDHB10	5	140573707	Nonsense_Mutation	SNP	G	TCGA-NA-A4QX-01A-11D-A28R-08	72984128	140573707	40341553	11	3926										
PCDHB11	56125	broad.mit.edu	37	chr5	140580929	140580929	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	acgaggccctgcaggctttcGacttccgcgtgggcgccaca	13	15	0	0	rs566964968		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr5:140580929G>T	ENST00000354757.3	+	1	1582	c.1582G>T	c.(1582-1584)Gac>Tac	p.D528Y	PCDHB11_ENST00000536699.1_Missense_Mutation_p.D163Y	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		D -> E (in dbSNP:rs799834).		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)			GCAGGCTTTCGACTTCCGCGT	0.677																																						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.(1582-1584)Gac>Tac									59	77	71					5																	140580929		2202	4300	6502	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580929G>T	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.1582G>T	5.37:g.140580929G>T	ENSP00000346802:p.Asp528Tyr		Somatic				PCDHB11_ENST00000536699.1_Missense_Mutation_p.D163Y	p.D528Y	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	1582	+			528		D -> E (in dbSNP:rs799834).	Cadherin 5.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.1582G>T	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	g	13.08	2.129574	0.37630	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.01787	4.64;4.64	2.51	0.272	0.15645	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.03136	0.0092	N	0.17379	0.485	0.09310	N	1	P	0.36874	0.572	P	0.55112	0.769	T	0.50898	-0.8773	9	0.87932	D	0	.	7.1263	0.25473	0.11:0.3273:0.5627:0.0	.	528	Q9Y5F2	PCDBB_HUMAN	Y	163;528	ENSP00000440344:D163Y;ENSP00000346802:D528Y	ENSP00000346802:D528Y	D	+	1	0	PCDHB11	140561113	0.000000	0.05858	0.011000	0.14972	0.087000	0.18053	-0.730000	0.04915	0.370000	0.24538	0.298000	0.19748	GAC		0.677	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		6	198	1	0	1.12685e-05	1	1.17926e-05	6	198					T	140580929	G	T	140580929	3	4	41	1	0	0	0	0	1	0	0	0	11545	1058	37	2	1584	2	PCDHB11	5	140580929	Missense_Mutation	SNP	G	TCGA-NA-A4QX-01A-11D-A28R-08	7222	140580929	40334331	12	3927										
NEDD9	4739	broad.mit.edu	37	chr6	11201242	11201242	+	Intron	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	tggtttgtttagaggctctcActaagaaataggacacttgc	10	7	1	2			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr6:11201242A>T	ENST00000379446.5	-	3	626				RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000379433.5_Missense_Mutation_p.V166E|NEDD9_ENST00000504387.1_Intron	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9						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)			AGAGGCTCTCACTAAGAAATA	0.428																																						ENST00000379433.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(496-498)gTg>gAg		neural precursor cell expressed, developmentally down-regulated 9							169	155	160					6																	11201242		2203	4300	6503	SO:0001627	intron_variant	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11201242A>T	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.460-7317T>A	6.37:g.11201242A>T			Somatic				NEDD9_ENST00000379446.5_Intron|NEDD9_ENST00000504387.1_Intron|RP3-510L9.1_ENST00000500636.2_RNA	p.V166E	NM_182966.3	NP_892011.2	WXS	Illumina GAIIx	Phase_I	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		3	639	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	0			Interacts strongly with spindle- regulatory protein D1M1.		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	c.497T>A	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455129	0.26161	.	.	ENSG00000111859	ENST00000379433	T	0.67865	-0.29	4.42	0.456	0.16655	.	.	.	.	.	T	0.12475	0.0303	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33727	-0.9857	8	0.02654	T	1	.	4.6674	0.12673	0.6762:0.0:0.18:0.1438	.	166	Q5XKI0	.	E	166	ENSP00000368745:V166E	ENSP00000368745:V166E	V	-	2	0	NEDD9	11309228	0.004000	0.15560	0.001000	0.08648	0.029000	0.11900	0.315000	0.19451	-0.262000	0.09392	-1.139000	0.01908	GTG		0.428	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		4	102	0	0	0	1	0	4	102					T	11201242	A	T	11201242	1	4	41	0	1	0	0	0	0	0	0	0	10322	159	6	4		4	NEDD9	6	11201242	Intron	SNP	A	TCGA-NA-A4QX-01A-11D-A28R-08		11201242	159913825	13	3928										
FTSJ2	8379	broad.mit.edu	37	chr7	2274828	2274828	+	5'Flank	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	cacttctgatgactctttccTgctggcttcaggtttgatga	9	10	3	4			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:2274828T>C	ENST00000406869.1	-	0	0				FTSJ2_ENST00000407040.1_Missense_Mutation_p.R130G|MAD1L1_ENST00000402746.1_5'Flank|FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000242257.8_Missense_Mutation_p.R224G|FTSJ2_ENST00000486040.1_5'UTR|MAD1L1_ENST00000399654.2_5'Flank|MAD1L1_ENST00000265854.7_5'Flank			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)						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)		GACTCTTTCCTGCTGGCTTCA	0.468																																						ENST00000242257.8																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(670-672)Agg>Ggg		FtsJ RNA methyltransferase homolog 2 (E. coli)							124	117	120					7																	2274828		2203	4300	6503	SO:0001631	upstream_gene_variant	29960				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity	g.chr7:2274828T>C	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		7.37:g.2274828T>C	Exception_encountered		Somatic				FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000407040.1_Missense_Mutation_p.R130G|FTSJ2_ENST00000486040.1_5'UTR	p.R224G	NM_013393.1	NP_037525.1	WXS	Illumina GAIIx	Phase_I	Q9UI43	RRMJ2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)	3	698	-		Ovarian(82;0.0253)	224					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.670A>G	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.767460	0.49574	.	.	ENSG00000122687	ENST00000242257;ENST00000407040	T;T	0.42513	0.97;0.97	5.23	4.07	0.47477	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.77343	0.4116	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84316	0.0513	10	0.87932	D	0	-11.5612	12.1819	0.54216	0.0:0.0:0.2683:0.7317	.	224	Q9UI43	RRMJ2_HUMAN	G	224;130	ENSP00000242257:R224G;ENSP00000384423:R130G	ENSP00000242257:R224G	R	-	1	2	FTSJ2	2241354	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	1.585000	0.36600	0.817000	0.34445	-0.488000	0.04728	AGG		0.468	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		34	63	0	0	0	1	0	34	63					C	2274828	T	C	2274828	1	2	41	0	1	0	0	0	0	0	0	0	6096	1579	55	4		4	FTSJ2	7	2274828	5'Flank	SNP	T	TCGA-NA-A4QX-01A-11D-A28R-08		2274828	156863835	14	3929										
FAM188B	84182	broad.mit.edu	37	chr7	30921881	30921881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	catcctctttagcctgcagcCggggctcctgcgtgactgga	12	14	1	1			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:30921881C>T	ENST00000265299.6	+	16	2134	c.2057C>T	c.(2056-2058)cCg>cTg	p.P686L	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_Missense_Mutation_p.P32L|AQP1_ENST00000509504.1_Missense_Mutation_p.P149L	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	686										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCTGCAGCCGGGGCTCCTG	0.592																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2056-2058)cCg>cTg		family with sequence similarity 188, member B							64	68	67					7																	30921881		1948	4142	6090	SO:0001583	missense	84182							g.chr7:30921881C>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.2057C>T	7.37:g.30921881C>T	ENSP00000265299:p.Pro686Leu		Somatic				INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000509504.1_Missense_Mutation_p.P149L|AQP1_ENST00000434909.2_Missense_Mutation_p.P32L	p.P686L	NM_032222.2	NP_115598.2	WXS	Illumina GAIIx	Phase_I	Q4G0A6	F188B_HUMAN			16	2134	+			686					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.2057C>T	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	C	8.660	0.900347	0.17686	.	.	ENSG00000106125;ENSG00000106125;ENSG00000240583;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000434909;ENST00000509504	T;T;T	0.30714	1.52;1.52;1.52	5.38	-6.64	0.01801	.	0.995408	0.08152	N	0.989938	T	0.18425	0.0442	L	0.42744	1.35	0.20074	N	0.999938	B;B;B	0.24426	0.001;0.103;0.026	B;B;B	0.19946	0.001;0.027;0.011	T	0.37911	-0.9685	10	0.87932	D	0	-0.3424	1.65	0.02769	0.1989:0.173:0.153:0.4751	.	32;206;686	B4E220;B8ZZX1;Q4G0A6	.;.;F188B_HUMAN	L	686;206;32;149	ENSP00000265299:P686L;ENSP00000395059:P32L;ENSP00000421315:P149L	ENSP00000265299:P686L	P	+	2	0	RP5-877J2.1;FAM188B;AQP1	30888406	0.027000	0.19231	0.003000	0.11579	0.269000	0.26545	0.327000	0.19663	-0.954000	0.03640	-1.047000	0.02352	CCG		0.592	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		33	40	0	0	0	1	0	33	40					T	30921881	C	T	30921881	3	4	41	1	0	0	0	0	1	0	0	0	5520	652	23	1	2119	1	FAM188B	7	30921881	Missense_Mutation	SNP	C	TCGA-NA-A4QX-01A-11D-A28R-08	28647053	30921881	128216782	15	3930										
NCF1	653361	broad.mit.edu	37	chr7	74197924	74197924	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	ggatcccagcgtccttcctcGagcccctggacagtcctgac	10	17	0	1			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:74197924G>C	ENST00000289473.4	+	7	701	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	211	Asp/Glu-rich (highly acidic).|SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	GTCCTTCCTCGAGCCCCTGGA	0.637																																						ENST00000289473.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						c.(631-633)Gag>Cag		neutrophil cytosolic factor 1							61	54	56					7																	74197924		2202	4298	6500	SO:0001583	missense	653361				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity	g.chr7:74197924G>C	M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"NADPH oxidase organizer 2", "chronic granulomatous disease, autosomal 1"	608512	"neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.631G>C	7.37:g.74197924G>C	ENSP00000289473:p.Glu211Gln		Somatic				NCF1_ENST00000443956.3_3'UTR	p.E211Q	NM_000265.4	NP_000256.3	WXS	Illumina GAIIx	Phase_I	P14598	NCF1_HUMAN			7	701	+			211			Asp/Glu-rich (highly acidic).|SH3 1.		A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Missense_Mutation	SNP	ENST00000289473.4	37	c.631G>C	CCDS34657.1	.	.	.	.	.	.	.	.	.	.	g	22.0	4.225931	0.79576	.	.	ENSG00000158517	ENST00000289473	T	0.70869	-0.52	4.14	4.14	0.48551	Src homology-3 domain (3);	0.101970	0.64402	D	0.000003	D	0.82641	0.5081	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.85764	0.1351	10	0.87932	D	0	-21.5201	15.444	0.75213	0.0:0.0:1.0:0.0	.	211	P14598	NCF1_HUMAN	Q	211	ENSP00000289473:E211Q	ENSP00000289473:E211Q	E	+	1	0	NCF1	73835860	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	8.990000	0.93510	1.886000	0.54624	0.289000	0.19496	GAG		0.637	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265		15	55	0	0	0	1	0	15	55					C	74197924	G	C	74197924	3	2	41	1	0	0	0	0	1	0	0	0	10225	1059	37	2	657	2	NCF1	7	74197924	Missense_Mutation	SNP	G	TCGA-NA-A4QX-01A-11D-A28R-08	43276043	74197924	84940739	16	3931										
SLC25A13	10165	broad.mit.edu	37	chr7	95775911	95775911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	ggtcccgcacgacagacagaGcactgactcgaggaccagtg	13	13	0	3			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:95775911G>A	ENST00000265631.5	-	14	1545	c.1409C>T	c.(1408-1410)gCt>gTt	p.A470V	SLC25A13_ENST00000416240.2_Missense_Mutation_p.A471V|SLC25A13_ENST00000542654.1_Missense_Mutation_p.A362V			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	470					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GACAGACAGAGCACTGACTCG	0.433																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(1411-1413)gCt>gTt		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						123	141	135					7																	95775911		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95775911G>A	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"Solute carriers", "EF-hand domain containing"	10983	protein-coding gene	gene with protein product	"mitochondrial aspartate glutamate carrier 2"	603859	"solute carrier family 25, member 13 (citrin)"	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1409C>T	7.37:g.95775911G>A	ENSP00000265631:p.Ala470Val		Somatic				SLC25A13_ENST00000542654.1_Missense_Mutation_p.A362V|SLC25A13_ENST00000265631.5_Missense_Mutation_p.A470V	p.A471V	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)		14	1602	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		470					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.1412C>T	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049871	0.75846	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.78126	-1.15;-1.15;-1.15	4.63	4.63	0.57726	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.83069	0.5174	L	0.41824	1.3	0.80722	D	1	D;D;D	0.63880	0.991;0.993;0.993	P;D;D	0.67382	0.86;0.951;0.951	D	0.83465	0.0056	10	0.48119	T	0.1	-14.0578	18.0706	0.89405	0.0:0.0:1.0:0.0	.	362;471;470	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	V	470;471;362	ENSP00000265631:A470V;ENSP00000400101:A471V;ENSP00000440484:A362V	ENSP00000265631:A470V	A	-	2	0	SLC25A13	95613847	1.000000	0.71417	0.944000	0.38274	0.222000	0.24845	9.657000	0.98554	2.575000	0.86900	0.655000	0.94253	GCT		0.433	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		73	129	0	0	0	1	0	73	129					A	95775911	G	A	95775911	3	1	41	1	0	0	0	0	1	0	0	0	14490	971	34	3	638	3	SLC25A13	7	95775911	Missense_Mutation	SNP	G	TCGA-NA-A4QX-01A-11D-A28R-08	21577987	95775911	63362752	17	3932										
OCM2	4951	broad.mit.edu	37	chr7	97617777	97617777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	ctggtcgttgtctatgaaccGgaaaacatccttcacctgac	8	12	2	2			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:97617777G>A	ENST00000257627.4	-	2	236	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	49	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			lung(4)	4						TCTATGAACCGGAAAACATCC	0.507																																						ENST00000257627.4																			0				lung(4)	4						c.(145-147)Cgg>Tgg		oncomodulin 2							173	149	157					7																	97617777		2203	4300	6503	SO:0001583	missense	4951						calcium ion binding	g.chr7:97617777G>A	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.145C>T	7.37:g.97617777G>A	ENSP00000257627:p.Arg49Trp		Somatic				OCM2_ENST00000473987.2_5'UTR	p.R49W	NM_006188.3	NP_006179.2	WXS	Illumina GAIIx	Phase_I	P0CE71	OCM2_HUMAN			2	236	-			49			EF-hand 1.		P32930|Q6ISI5|Q75MW0	Missense_Mutation	SNP	ENST00000257627.4	37	c.145C>T	CCDS5653.1	.	.	.	.	.	.	.	.	.	.	g	17.57	3.421688	0.62622	.	.	ENSG00000135175	ENST00000257627	T	0.72282	-0.64	3.98	3.98	0.46160	EF-hand-like domain (1);	0.210681	0.40818	N	0.001016	T	0.76702	0.4024	M	0.83603	2.65	0.34089	D	0.660529	D	0.57571	0.98	P	0.50162	0.633	D	0.85283	0.1063	10	0.54805	T	0.06	-9.1981	10.9655	0.47410	0.0:0.1906:0.8094:0.0	.	49	P0CE71	OCM2_HUMAN	W	49	ENSP00000257627:R49W	ENSP00000257627:R49W	R	-	1	2	OCM2	97455713	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.429000	0.34903	2.074000	0.62210	0.472000	0.43445	CGG		0.507	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	NM_006188		36	62	0	0	0	1	0	36	62					A	97617777	G	A	97617777	3	1	41	1	0	0	0	0	1	0	0	0	10831	1115	39	1	196	1	OCM2	7	97617777	Missense_Mutation	SNP	G	TCGA-NA-A4QX-01A-11D-A28R-08	1841866	97617777	61520886	18	3933										
HIATL1	84641	broad.mit.edu	37	chr9	97218544	97218544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	tgatgtgggcagcagggaccGtggctgccatgtccagcatc	15	11	0	1	rs201761715		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr9:97218544G>A	ENST00000375344.3	+	10	1320	c.1051G>A	c.(1051-1053)Gtg>Atg	p.V351M	HIATL1_ENST00000428393.2_Intron	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	351					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				AGCAGGGACCGTGGCTGCCAT	0.562																																					Pancreas(77;1260 1915 1973 10423)	ENST00000375344.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11						c.(1051-1053)Gtg>Atg		hippocampus abundant transcript-like 1							107	82	91					9																	97218544		2203	4300	6503	SO:0001583	missense	84641				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity	g.chr9:97218544G>A	AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.1051G>A	9.37:g.97218544G>A	ENSP00000364493:p.Val351Met		Somatic				HIATL1_ENST00000428393.2_Intron	p.V351M	NM_032558.2	NP_115947.2	WXS	Illumina GAIIx	Phase_I	Q5SR56	HIAL1_HUMAN			10	1320	+		Acute lymphoblastic leukemia(62;0.136)	351					B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Missense_Mutation	SNP	ENST00000375344.3	37	c.1051G>A	CCDS6710.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405282	0.83230	.	.	ENSG00000148110	ENST00000375344;ENST00000277183	D	0.82081	-1.57	5.05	5.05	0.67936	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.53938	D	0.000041	T	0.80014	0.4546	L	0.41573	1.285	0.80722	D	1	P	0.51791	0.948	P	0.45195	0.473	T	0.81364	-0.0966	10	0.49607	T	0.09	-8.3655	16.2969	0.82781	0.0:0.0:1.0:0.0	.	351	Q5SR56	HIAL1_HUMAN	M	351;56	ENSP00000364493:V351M	ENSP00000277183:V56M	V	+	1	0	HIATL1	96258365	1.000000	0.71417	0.991000	0.47740	0.954000	0.61252	5.178000	0.65037	2.804000	0.96469	0.655000	0.94253	GTG		0.562	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		29	25	0	0	0	1	0	29	25					A	97218544	G	A	97218544	3	1	41	1	0	0	0	0	1	0	0	0	7107	1145	40	1	1089	1	HIATL1	9	97218544	Missense_Mutation	SNP	G	TCGA-NA-A4QX-01A-11D-A28R-08		97218544	43994887	19	3934										
CTBP2	1488	broad.mit.edu	37	chr10	126692042	126692042	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	cgggggtgcagggggccgttCatgatctgggggcggatacc	20	9	2	1			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr10:126692042C>T	ENST00000337195.5	-	4	477	c.78G>A	c.(76-78)atG>atA	p.M26I	CTBP2_ENST00000531469.1_Missense_Mutation_p.M26I|CTBP2_ENST00000334808.6_Missense_Mutation_p.M94I|CTBP2_ENST00000309035.6_Missense_Mutation_p.M566I|CTBP2_ENST00000411419.2_Missense_Mutation_p.M26I|CTBP2_ENST00000494626.2_Missense_Mutation_p.M26I	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	26					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)		GGGGGCCGTTCATGATCTGGG	0.687																																						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.(1696-1698)atG>atA		C-terminal binding protein 2							14	18	16					10																	126692042		2147	4173	6320	SO:0001583	missense	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.chr10:126692042C>T	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.78G>A	10.37:g.126692042C>T	ENSP00000338615:p.Met26Ile		Somatic				CTBP2_ENST00000411419.2_Missense_Mutation_p.M26I|CTBP2_ENST00000337195.5_Missense_Mutation_p.M26I|CTBP2_ENST00000334808.6_Missense_Mutation_p.M94I|CTBP2_ENST00000531469.1_Missense_Mutation_p.M26I|CTBP2_ENST00000494626.2_Missense_Mutation_p.M26I	p.M566I	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)	2	1828	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	26					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.1698G>A	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901608	0.72754	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D;D;D	0.83755	-1.64;-1.76;-1.72;-1.64;-1.64;-1.64	4.72	4.72	0.59763	.	0.118609	0.85682	D	0.000000	T	0.78604	0.4309	N	0.19112	0.55	0.80722	D	1	B;P;B	0.40909	0.077;0.732;0.138	B;P;B	0.44696	0.017;0.458;0.04	T	0.82476	-0.0438	10	0.72032	D	0.01	.	18.0503	0.89345	0.0:1.0:0.0:0.0	.	26;566;94	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	I	26;566;94;26;26;26	ENSP00000338615:M26I;ENSP00000311825:M566I;ENSP00000357816:M94I;ENSP00000434630:M26I;ENSP00000436285:M26I;ENSP00000410474:M26I	ENSP00000311825:M566I	M	-	3	0	CTBP2	126682032	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.005000	0.70716	2.350000	0.79820	0.561000	0.74099	ATG		0.687	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		9	14	0	0	0	1	0	9	14					T	126692042	C	T	126692042	3	4	41	1	0	0	0	0	1	0	0	0	4000	826	29	3	1291	3	CTBP2	10	126692042	Missense_Mutation	SNP	C	TCGA-NA-A4QX-01A-11D-A28R-08		126692042	8842705	20	3935										
HEATR5A	25938	broad.mit.edu	37	chr14	31817004	31817004	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	caaagtataaaggattccaaTacaagaatttaggtgttgag	9	4	0	2			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr14:31817004T>C	ENST00000389961.3	-	18	2799	c.2800A>G	c.(2800-2802)Att>Gtt	p.I934V	HEATR5A_ENST00000439727.1_Missense_Mutation_p.I647V|HEATR5A_ENST00000439348.1_Missense_Mutation_p.I934V|HEATR5A_ENST00000543095.2_Missense_Mutation_p.I940V|HEATR5A_ENST00000404677.3_Missense_Mutation_p.I940V			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	934										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AGGATTCCAATACAAGAATTT	0.428																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(2818-2820)Att>Gtt		HEAT repeat containing 5A							55	55	55					14																	31817004		1874	4101	5975	SO:0001583	missense	25938						binding	g.chr14:31817004T>C	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.2800A>G	14.37:g.31817004T>C	ENSP00000374611:p.Ile934Val		Somatic				HEATR5A_ENST00000389961.3_Missense_Mutation_p.I934V|HEATR5A_ENST00000439348.1_Missense_Mutation_p.I934V|HEATR5A_ENST00000404677.3_Missense_Mutation_p.I940V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.I647V	p.I940V	NM_015473.3	NP_056288.2	WXS	Illumina GAIIx	Phase_I	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	19	3002	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		934					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.2818A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.389|2.389	-0.340331|-0.340331	0.05243|0.05243	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366	T;T;T;T;T|.	0.65916|.	-0.18;-0.18;-0.18;-0.18;-0.18|.	5.06|5.06	-1.81|-1.81	0.07882|0.07882	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.380247|.	0.25596|.	N|.	0.029591|.	T|T	0.18718|0.18718	0.0449|0.0449	N|N	0.03608|0.03608	-0.345|-0.345	0.30259|0.30259	N|N	0.793304|0.793304	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.001;0.001;0.001|.	T|T	0.33574|0.33574	-0.9863|-0.9863	10|5	0.02654|.	T|.	1|.	.|.	11.4906|11.4906	0.50379|0.50379	0.0:0.5807:0.0:0.4193|0.0:0.5807:0.0:0.4193	.|.	940;934;934|.	B5MC49;Q86XA9-2;Q86XA9|.	.;.;HTR5A_HUMAN|.	V|C	934;934;647;940;940|582	ENSP00000374611:I934V;ENSP00000405407:I934V;ENSP00000408681:I647V;ENSP00000437968:I940V;ENSP00000384646:I940V|.	ENSP00000374611:I934V|.	I|Y	-|-	1|2	0|0	HEATR5A|HEATR5A	30886755|30886755	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.919000|0.919000	0.55068|0.55068	0.891000|0.891000	0.28309|0.28309	-0.218000|-0.218000	0.10018|0.10018	-0.411000|-0.411000	0.06167|0.06167	ATT|TAT		0.428	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		10	7	0	0	0	1	0	10	7					C	31817004	T	C	31817004	3	2	41	1	0	0	0	0	1	0	0	0	7040	1406	49	4	3394	4	HEATR5A	14	31817004	Missense_Mutation	SNP	T	TCGA-NA-A4QX-01A-11D-A28R-08		31817004	75532536	21	3936										
CKMT1B	1159	broad.mit.edu	37	chr15	43891378	43891378	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	gagctggtgcaactggtcatCgatggagtaaactatttgat	12	6	1	1			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr15:43891378C>T	ENST00000441322.1	+	9	1521	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	CKMT1B_ENST00000300283.6_Silent_p.I387I			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	387	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				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)	AACTGGTCATCGATGGAGTAA	0.473																																						ENST00000300283.6																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(1159-1161)atC>atT		creatine kinase, mitochondrial 1B	Creatine(DB00148)						218	190	200					15																	43891378		2200	4297	6497	SO:0001819	synonymous_variant	1159				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43891378C>T	AK094322, J04469	CCDS10097.1	15q15	2005-04-15		2005-04-15	ENSG00000237289	ENSG00000237289	2.7.3.2		1995	protein-coding gene	gene with protein product		123290	"creatine kinase, mitochondrial 1 (ubiquitous)"	CKMT, CKMT1			Standard	XM_005254150		Approved	UMTCK	uc001zsc.3	P12532	OTTHUMG00000059900	ENST00000441322.1:c.1161C>T	15.37:g.43891378C>T			Somatic				CKMT1B_ENST00000441322.1_Silent_p.I387I	p.I387I	NM_020990.3	NP_066270.1	WXS	Illumina GAIIx	Phase_I	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	10	1553	+		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)	387			Phosphagen kinase C-terminal.		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Silent	SNP	ENST00000441322.1	37	c.1161C>T	CCDS10097.1																																																																																				0.473	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133147.2	NM_020990		74	66	0	0	0	1	0	74	66					T	43891378	C	T	43891378	2	4	41	1	0	0	0	0	0	0	0	1	3452	874	31	1		1	CKMT1B	15	43891378	Silent	SNP	C	TCGA-NA-A4QX-01A-11D-A28R-08		43891378	58640014	22	3937										
CHD2	1106	broad.mit.edu	37	chr15	93524635	93524635	+	Missense_Mutation	SNP	G	G	T													0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	tttgcggttggctgaaacgaGagagaatgaagtgtcaacaa							TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr15:93524635G>T	ENST00000394196.4	+	24	4082	c.3014G>T	c.(3013-3015)aGa>aTa	p.R1005I	CHD2_ENST00000557381.1_Missense_Mutation_p.R1005I	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1005	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)			GCTGAAACGAGAGAGAATGAA	0.373																																						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.(3013-3015)aGa>aTa		chromodomain helicase DNA binding protein 2							146	138	141					15																	93524635		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.chr15:93524635G>T	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.3014G>T	15.37:g.93524635G>T	ENSP00000377747:p.Arg1005Ile		Somatic				CHD2_ENST00000557381.1_Missense_Mutation_p.R1005I	p.R1005I	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)		24	4082	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1005			Glu-rich.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.3014G>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878122	0.91664	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.02421	4.3;4.3	4.87	4.87	0.63330	.	0.000000	0.34879	U	0.003608	T	0.13543	0.0328	M	0.62016	1.91	0.80722	D	1	P;D	0.65815	0.813;0.995	P;D	0.69654	0.5;0.965	T	0.00370	-1.1783	10	0.87932	D	0	-24.4715	18.3972	0.90502	0.0:0.0:1.0:0.0	.	1005;1005	O14647;O14647-2	CHD2_HUMAN;.	I	1005	ENSP00000377747:R1005I;ENSP00000451366:R1005I	ENSP00000377747:R1005I	R	+	2	0	CHD2	91325639	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.206000	0.95056	2.408000	0.81797	0.655000	0.94253	AGA		0.373	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		3	10	1	0	1	1	1	3	10					T	93524635	G	T	93524635	3	4	41	1	0	0	0	0	1	0	0	0	3327	942	33	2	3108	2	CHD2	15	93524635	Missense_Mutation	SNP	G	TCGA-NA-A4QX-01A-11D-A28R-08	49633257	93524635	9006757	23	3938	14	2								
CHD2	1106	broad.mit.edu	37	chr15	93524636	93524636	+	Missense_Mutation	SNP	A	A	T													0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	ttgcggttggctgaaacgagAgagaatgaagtgtcaacaag							TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr15:93524636A>T	ENST00000394196.4	+	24	4083	c.3015A>T	c.(3013-3015)agA>agT	p.R1005S	CHD2_ENST00000557381.1_Missense_Mutation_p.R1005S	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1005	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)			CTGAAACGAGAGAGAATGAAG	0.368																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(3013-3015)agA>agT		chromodomain helicase DNA binding protein 2							147	139	142					15																	93524636		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.chr15:93524636A>T	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.3015A>T	15.37:g.93524636A>T	ENSP00000377747:p.Arg1005Ser		Somatic				CHD2_ENST00000557381.1_Missense_Mutation_p.R1005S	p.R1005S	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)		24	4083	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1005			Glu-rich.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.3015A>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	A	19.07	3.756196	0.69648	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.02301	4.35;4.35	4.87	4.87	0.63330	.	0.000000	0.34879	U	0.003608	T	0.08758	0.0217	M	0.78223	2.4	0.80722	D	1	B;D	0.54772	0.066;0.968	B;P	0.56865	0.105;0.808	T	0.00549	-1.1676	10	0.72032	D	0.01	-24.4715	9.7011	0.40187	0.9107:0.0:0.0893:0.0	.	1005;1005	O14647;O14647-2	CHD2_HUMAN;.	S	1005	ENSP00000377747:R1005S;ENSP00000451366:R1005S	ENSP00000377747:R1005S	R	+	3	2	CHD2	91325640	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	1.635000	0.37134	1.951000	0.56629	0.533000	0.62120	AGA		0.368	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		3	11	0	0	0	1	0	3	11					T	93524636	A	T	93524636	3	4	41	1	0	0	0	0	1	0	0	0	3327	301	11	4	3109	4	CHD2	15	93524636	Missense_Mutation	SNP	A	TCGA-NA-A4QX-01A-11D-A28R-08	1	93524636	9006756	24	3939	14	2								
DNASE1	1773	broad.mit.edu	37	chr16	3707025	3707025	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	agggagtttgccattgttccCctgcatgcggccccggggga	15	12	0	0	rs372063579		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr16:3707025C>T	ENST00000246949.5	+	6	3671	c.462C>T	c.(460-462)ccC>ccT	p.P154P	DNASE1_ENST00000407479.1_Silent_p.P154P|DNASE1_ENST00000414110.2_Intron	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	154			P -> A (in allele DNASE1*3; dbSNP:rs1799891).		apoptotic process (GO:0006915)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	deoxyribonuclease I activity (GO:0004530)			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)		CCATTGTTCCCCTGCATGCGG	0.602																																						ENST00000246949.5																			0				lung(1)	1						c.(460-462)ccC>ccT		deoxyribonuclease I	Dornase Alfa(DB00003)	C		2,4392		0,2,2195	50	45	47		462	1.5	1	16		47	0,8600		0,0,4300	no	coding-synonymous	DNASE1	NM_005223.3		0,2,6495	TT,TC,CC		0.0,0.0455,0.0154		154/283	3707025	2,12992	2197	4300	6497	SO:0001819	synonymous_variant	1773				apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity	g.chr16:3707025C>T		CCDS10507.1	16p13.3	2008-02-05			ENSG00000213918	ENSG00000213918	3.1.21.1		2956	protein-coding gene	gene with protein product		125505		DNL1		2349940	Standard	XM_005255148		Approved		uc002cvr.3	P24855	OTTHUMG00000129426	ENST00000246949.5:c.462C>T	16.37:g.3707025C>T			Somatic				DNASE1_ENST00000414110.2_Intron|DNASE1_ENST00000407479.1_Silent_p.P154P	p.P154P	NM_005223.3	NP_005214.2	WXS	Illumina GAIIx	Phase_I	P24855	DNAS1_HUMAN		Kidney(780;0.0556)	6	3671	+		Ovarian(90;0.0261)	154		P -> A (in allele DNASE1*3; dbSNP:rs1799891).			B4DV35|Q14UU9|Q14UV0	Silent	SNP	ENST00000246949.5	37	c.462C>T	CCDS10507.1																																																																																				0.602	DNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251585.2			6	33	0	0	0	1	0	6	33					T	3707025	C	T	3707025	2	4	41	1	0	0	0	0	0	0	0	1	4662	610	22	3		3	DNASE1	16	3707025	Silent	SNP	C	TCGA-NA-A4QX-01A-11D-A28R-08		3707025	86647728	25	3940										
IGSF6	10261	broad.mit.edu	37	chr16	21658474	21658476	+	In_Frame_Del	DEL	CCT	CCT	-													0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	ctcttaccaccagtgtggtcCctcctcctgtctgtttagct							TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr16:21658474_21658476delCCT	ENST00000268389.4	-	2	466_468	c.405_407delAGG	c.(403-408)ggaggg>ggg	p.135_136GG>G	METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	135					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)		CAGTGTGGTCCCTCCTCCTGTCT	0.468																																						ENST00000268389.4																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(403-408)ggg>gg		immunoglobulin superfamily, member 6																																				SO:0001651	inframe_deletion	10261				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr16:21658474_21658476delCCT	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.405_407delAGG	16.37:g.21658480_21658482delCCT	ENSP00000268389:p.Gly136del		Somatic				METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	p.GG135del	NM_005849.3	NP_005840.2	WXS	Illumina GAIIx	Phase_I	O95976	IGSF6_HUMAN		GBM - Glioblastoma multiforme(48;0.066)	2	466_468	-			135					Q8WWD8	In_Frame_Del	DEL	ENST00000268389.4	37	c.405_407delAGG	CCDS10599.1																																																																																				0.468	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1			36	77						36	77	---	---	---	---	-	21658476	CCT	-	21658474	7	5	41	1	0	1	0	1	0	0	0	0	7612	623	22	0	338	0	IGSF6	16	21658474	In_Frame_Del	DEL	CCT	TCGA-NA-A4QX-01A-11D-A28R-08	17951449	21658474	68696279	26	3941										
NFATC3	4775	broad.mit.edu	37	chr16	68200785	68200785	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	ttgaaactccgcaattcagaTatagaacttcgaaaaggaga	8	7	1	4			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr16:68200785T>C	ENST00000346183.3	+	5	1665	c.1641T>C	c.(1639-1641)gaT>gaC	p.D547D	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Silent_p.D547D|NFATC3_ENST00000329524.4_Silent_p.D547D|NFATC3_ENST00000349223.5_Silent_p.D547D	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	547	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GCAATTCAGATATAGAACTTC	0.333																																						ENST00000349223.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.(1639-1641)gaT>gaC		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							85	81	82					16																	68200785		2198	4300	6498	SO:0001819	synonymous_variant	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68200785T>C	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1641T>C	16.37:g.68200785T>C			Somatic				NFATC3_ENST00000575270.1_Silent_p.D547D|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.D547D|NFATC3_ENST00000329524.4_Silent_p.D547D	p.D547D	NM_173163.2	NP_775186.1	WXS	Illumina GAIIx	Phase_I	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	5	1865	+		Ovarian(137;0.0563)	547			RHD.		O75211|Q14516|Q99840|Q99841|Q99842	Silent	SNP	ENST00000346183.3	37	c.1641T>C	CCDS10860.1																																																																																				0.333	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		13	20	0	0	0	1	0	13	20					C	68200785	T	C	68200785	2	2	41	1	0	0	0	0	0	0	0	1	10373	1403	49	4		4	NFATC3	16	68200785	Silent	SNP	T	TCGA-NA-A4QX-01A-11D-A28R-08	46542311	68200785	22153968	27	3942										
TP53	7157	broad.mit.edu	37	chr17	7578402	7578403	+	Frame_Shift_Ins	INS	-	-	T													0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	agcagcgctcatggtgggggINScagcgcctcacaacctccgt							TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr17:7578402_7578403insT	ENST00000269305.4	-	5	716_717	c.527_528insA	c.(526-528)tgcfs	p.C176fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.C176fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.C176fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.C176fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.C176fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Frame_Shift_Ins_p.C176fs	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.C176F(129)|p.C176Y(63)|p.C176*(12)|p.C176W(11)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.H178fs*69(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.C83*(2)|p.V173fs*59(2)|p.C44*(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.R42fs*24(1)|p.P177fs*4(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.H178fs*3(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)	CATGGTGGGGGCAGCGCCTCAC	0.649		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"		298	Substitution - Missense(235)|Deletion - Frameshift(21)|Substitution - Nonsense(16)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(2)	p.C176F(129)|p.C176Y(63)|p.C176*(12)|p.C176W(11)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.H178fs*69(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.C83*(2)|p.V173fs*59(2)|p.C44*(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.R42fs*24(1)|p.P177fs*4(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.H178fs*3(1)|p.R174fs*3(1)	lung(47)|large_intestine(45)|upper_aerodigestive_tract(37)|breast(33)|oesophagus(28)|ovary(21)|liver(20)|haematopoietic_and_lymphoid_tissue(14)|stomach(11)|central_nervous_system(9)|bone(9)|urinary_tract(8)|skin(3)|pancreas(3)|genital_tract(2)|endometrium(2)|prostate(2)|adrenal_gland(1)|vulva(1)|soft_tissue(1)|biliary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(526-528)tccfs	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.chr17:7578402_7578403insT	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.527_528insA	17.37:g.7578402_7578403insT	ENSP00000269305:p.Cys176fs	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.S176fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.S176fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.S176fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.S176fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Frame_Shift_Ins_p.S176fs	p.S176fs	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	659_660	-		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	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.527_528insA	CCDS11118.1																																																																																				0.649	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	10						23	10	---	---	---	---	T	7578403	-	T	7578402	7	5	41	1	0	1	1	0	0	0	0	0	16396	1195	42	0	770	0	TP53	17	7578402	Frame_Shift_Ins	INS	-	TCGA-NA-A4QX-01A-11D-A28R-08		7578402	73616808	28	3943										
MYO15A	51168	broad.mit.edu	37	chr17	18023599	18023599	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	gggaaggagaagctggaggtGcccctgccaccctctctgga	15	12	1	1			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr17:18023599G>A	ENST00000205890.5	+	2	1823	c.1485G>A	c.(1483-1485)gtG>gtA	p.V495V		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	495					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)					AGCTGGAGGTGCCCCTGCCAC	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.(1483-1485)gtG>gtA		myosin XVA							37	45	43					17																	18023599		2051	4184	6235	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023599G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1485G>A	17.37:g.18023599G>A			Somatic					p.V495V	NM_016239.3	NP_057323.3	WXS	Illumina GAIIx	Phase_I	Q9UKN7	MYO15_HUMAN			2	1823	+	all_neural(463;0.228)		495			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.1485G>A	CCDS42271.1																																																																																				0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		34	8	0	0	0	1	0	34	8					A	18023599	G	A	18023599	2	1	41	1	0	0	0	0	0	0	0	1	10072	1306	46	3		3	MYO15A	17	18023599	Silent	SNP	G	TCGA-NA-A4QX-01A-11D-A28R-08	10445197	18023599	63171611	29	3944										
CACNA1A	773	broad.mit.edu	37	chr19	13338336	13338336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	acatgtccaggtaaggcatgCggcccctggcagcaccgaaa	12	13	0	0			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:13338336C>T	ENST00000360228.5	-	37	5533	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	CACNA1A_ENST00000573710.2_Intron|CACNA1A_ENST00000574822.1_5'Flank	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1846					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)	GTAAGGCATGCGGCCCCTGGC	0.493																																						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.(5533-5535)cGc>cAc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						48	49	49					19																	13338336		1877	4112	5989	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.chr19:13338336C>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.5534G>A	19.37:g.13338336C>T	ENSP00000353362:p.Arg1845His		Somatic				CACNA1A_ENST00000573710.2_Intron	p.R1845H	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)		37	5533	-			1846					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5534G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	c	24.9	4.580140	0.86645	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018	D	0.96459	-4.02	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000001	D	0.98264	0.9425	M	0.88640	2.97	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.99581	1.0973	10	0.87932	D	0	.	16.0868	0.81060	0.0:1.0:0.0:0.0	.	1845	Q9NS88	.	H	1845;1851;1846	ENSP00000353362:R1845H	ENSP00000349520:R1846H	R	-	2	0	CACNA1A	13199336	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.764000	0.85297	2.079000	0.62486	0.298000	0.19748	CGC		0.493	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		4	64	0	0	0	1	0	4	64					T	13338336	C	T	13338336	3	4	41	1	0	0	0	0	1	0	0	0	2540	768	27	1	2030	1	CACNA1A	19	13338336	Missense_Mutation	SNP	C	TCGA-NA-A4QX-01A-11D-A28R-08		13338336	45790647	30	3945										
ATP4A	495	broad.mit.edu	37	chr19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-													0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	ttgccacccccgccacccgcCttcttcttcttgctcatctt							TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					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)	CGCCACCCGCCTTCTTCTTCTTG	0.601																																						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.(91-93)del		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)																																			SO:0001651	inframe_deletion	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054349_36054351delCTT		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.91_93delAAG	19.37:g.36054358_36054360delCTT	ENSP00000262623:p.Lys31del		Somatic					p.K31del	NM_000704.2	NP_000695.2	WXS	Illumina GAIIx	Phase_I	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	119_121	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		31					O00738	In_Frame_Del	DEL	ENST00000262623.3	37	c.91_93delAAG	CCDS12467.1																																																																																				0.601	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		9	1171						9	1171	---	---	---	---	-	36054351	CTT	-	36054349	7	5	41	1	0	1	0	1	0	0	0	0	1145	680	24	0	3098	0	ATP4A	19	36054349	In_Frame_Del	DEL	CTT	TCGA-NA-A4QX-01A-11D-A28R-08	22716013	36054349	23074634	31	3946										
ZNF573	126231	broad.mit.edu	37	chr19	38230644	38230644	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	ctaaaggccctcccacactcCtgacattcatacggcttccc	5	18	1	1			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:38230644C>T	ENST00000590414.2	-	4	768	c.747G>A	c.(745-747)caG>caA	p.Q249Q	ZNF573_ENST00000536220.1_Silent_p.Q161Q|ZNF573_ENST00000339503.4_Silent_p.Q191Q|ZNF573_ENST00000357309.3_Silent_p.Q161Q|ZNF573_ENST00000392138.1_Silent_p.Q162Q			Q86YE8	ZN573_HUMAN	zinc finger protein 573	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TCCCACACTCCTGACATTCAT	0.428																																						ENST00000339503.4																			0				NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(571-573)caG>caA		zinc finger protein 573							121	114	117					19																	38230644		2203	4300	6503	SO:0001819	synonymous_variant	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38230644C>T	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"Zinc fingers, C2H2-type", "-"	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.747G>A	19.37:g.38230644C>T			Somatic				ZNF573_ENST00000392138.1_Silent_p.Q162Q|ZNF573_ENST00000590414.2_Silent_p.Q249Q|ZNF573_ENST00000357309.3_Silent_p.Q161Q|ZNF573_ENST00000536220.1_Silent_p.Q161Q	p.Q191Q	NM_152360.3	NP_689573.3	WXS	Illumina GAIIx	Phase_I	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		8	1074	-			229					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Silent	SNP	ENST00000590414.2	37	c.573G>A	CCDS59381.1																																																																																				0.428	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		37	371	0	0	0	1	0	37	371					T	38230644	C	T	38230644	2	4	41	1	0	0	0	0	0	0	0	1	18020	680	24	3		3	ZNF573	19	38230644	Silent	SNP	C	TCGA-NA-A4QX-01A-11D-A28R-08	2176295	38230644	20898339	32	3947										
RASGRP4	115727	broad.mit.edu	37	chr19	38910572	38910572	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	tcccccgtctccaagtggtcGaaaagcaaggacactttgcg	10	13	1	0			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:38910572G>T	ENST00000587738.1	-	6	661	c.591C>A	c.(589-591)ttC>ttA	p.F197L	RASGRP4_ENST00000454404.2_Missense_Mutation_p.F197L|RASGRP4_ENST00000587753.1_Missense_Mutation_p.F197L|RASGRP4_ENST00000426920.2_Missense_Mutation_p.F197L|RASGRP4_ENST00000586305.1_Missense_Mutation_p.F183L|RASGRP4_ENST00000293062.9_Missense_Mutation_p.F197L|RASGRP4_ENST00000433821.2_Missense_Mutation_p.F197L			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	197					activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAAGTGGTCGAAAAGCAAGG	0.652																																						ENST00000454404.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23						c.(589-591)ttC>ttA		RAS guanyl releasing protein 4							37	38	37					19																	38910572		1933	4120	6053	SO:0001583	missense	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38910572G>T	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"EF-hand domain containing"	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.591C>A	19.37:g.38910572G>T	ENSP00000465772:p.Phe197Leu		Somatic				RASGRP4_ENST00000587753.1_Missense_Mutation_p.F197L|RASGRP4_ENST00000426920.2_Missense_Mutation_p.F197L|RASGRP4_ENST00000293062.9_Missense_Mutation_p.F197L|RASGRP4_ENST00000433821.2_Missense_Mutation_p.F197L|RASGRP4_ENST00000587738.1_Missense_Mutation_p.F197L|RASGRP4_ENST00000586305.1_Missense_Mutation_p.F183L	p.F197L	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	WXS	Illumina GAIIx	Phase_I	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		6	804	-	all_cancers(60;4.21e-06)		197					A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	c.591C>A	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365603	0.61513	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	4.78	-4.42	0.03579	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.052824	0.85682	N	0.000000	T	0.42539	0.1207	M	0.80183	2.485	0.47511	D	0.999448	P;B;D;D;D;D;D	0.89917	0.475;0.309;1.0;0.999;1.0;1.0;0.999	B;B;D;D;D;D;D	0.97110	0.15;0.086;1.0;0.984;1.0;1.0;0.984	T	0.45934	-0.9227	10	0.87932	D	0	-22.9049	7.0755	0.25201	0.6246:0.1423:0.2331:0.0	.	197;197;197;197;197;183;197	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	L	197	ENSP00000411878:F197L;ENSP00000293062:F197L;ENSP00000445966:F197L;ENSP00000416463:F197L	ENSP00000293062:F197L	F	-	3	2	RASGRP4	43602412	0.806000	0.28996	0.943000	0.38184	0.933000	0.57130	-0.056000	0.11787	-0.538000	0.06281	0.561000	0.74099	TTC		0.652	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		6	131	1	0	0.00116845	1	0.001195	6	131					T	38910572	G	T	38910572	3	4	41	1	0	0	0	0	1	0	0	0	13092	1049	37	2	1478	2	RASGRP4	19	38910572	Missense_Mutation	SNP	G	TCGA-NA-A4QX-01A-11D-A28R-08	679928	38910572	20218411	33	3948										
PPP2R1A	5518	broad.mit.edu	37	chr19	52716212	52716212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	cctctcctctccctaggactCggtgcggctgctggcggtgg	14	15	2	0			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:52716212C>T	ENST00000322088.6	+	6	714	c.656C>T	c.(655-657)tCg>tTg	p.S219L	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S40L|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S164L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	219	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CCCTAGGACTCGGTGCGGCTG	0.647			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(655-657)tCg>tTg		protein phosphatase 2, regulatory subunit A, alpha							40	39	39					19																	52716212		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52716212C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.656C>T	19.37:g.52716212C>T	ENSP00000324804:p.Ser219Leu		Somatic				PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S40L|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S164L	p.S219L	NM_014225.5	NP_055040.2	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	6	714	+			219			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.656C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974548	0.92919	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.05580	3.42;3.42	4.59	4.59	0.56863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.51477	D	0.000081	T	0.32645	0.0836	M	0.93550	3.43	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;P;P	0.66602	0.945;0.608;0.608	T	0.43556	-0.9384	10	0.87932	D	0	-12.1764	15.3348	0.74244	0.0:1.0:0.0:0.0	.	164;219;219	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	L	209;139;219;164	ENSP00000324804:S219L;ENSP00000415067:S164L	ENSP00000324804:S219L	S	+	2	0	PPP2R1A	57408024	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	4.989000	0.63870	2.550000	0.86006	0.655000	0.94253	TCG		0.647	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		130	38	0	0	0	1	0	130	38					T	52716212	C	T	52716212	3	4	41	1	0	0	0	0	1	0	0	0	12394	893	31	1	678	1	PPP2R1A	19	52716212	Missense_Mutation	SNP	C	TCGA-NA-A4QX-01A-11D-A28R-08	13805640	52716212	6412771	34	3949										
ZNF211	10520	broad.mit.edu	37	chr19	58152473	58152476	+	Frame_Shift_Del	DEL	CAAA	CAAA	-													0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	ttctccatcaagacgccactCaaacaggggagaagccaaat							TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:58152473_58152476delCAAA	ENST00000347302.3	+	3	798_801	c.619_622delCAAA	c.(619-624)caaacafs	p.QT207fs	ZNF211_ENST00000544273.1_Frame_Shift_Del_p.QT219fs|ZNF211_ENST00000541801.1_Frame_Shift_Del_p.QT198fs|ZNF211_ENST00000391703.3_Frame_Shift_Del_p.QT146fs|ZNF211_ENST00000420680.1_Frame_Shift_Del_p.QT211fs|ZNF211_ENST00000299871.5_Frame_Shift_Del_p.QT272fs|ZNF211_ENST00000254182.7_Frame_Shift_Del_p.QT198fs|ZNF211_ENST00000240731.4_Frame_Shift_Del_p.QT220fs	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		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;0.026)		AGACGCCACTCAAACAGGGGAGAA	0.471																																						ENST00000544273.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(655-660)cafs		zinc finger protein 211																																				SO:0001589	frameshift_variant	0					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152473_58152476delCAAA	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"Zinc fingers, C2H2-type", "-"	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.619_622delCAAA	19.37:g.58152473_58152476delCAAA	ENSP00000339562:p.Gln207fs		Somatic				ZNF211_ENST00000299871.5_Frame_Shift_Del_p.QT272fs|ZNF211_ENST00000541801.1_Frame_Shift_Del_p.QT198fs|ZNF211_ENST00000347302.3_Frame_Shift_Del_p.QT207fs|ZNF211_ENST00000420680.1_Frame_Shift_Del_p.QT211fs|ZNF211_ENST00000391703.3_Frame_Shift_Del_p.QT146fs|ZNF211_ENST00000254182.7_Frame_Shift_Del_p.QT198fs|ZNF211_ENST00000240731.4_Frame_Shift_Del_p.QT220fs	p.QT219fs			WXS	Illumina GAIIx	Phase_I	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	982_985	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	207					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Frame_Shift_Del	DEL	ENST00000347302.3	37	c.655_658delCAAA	CCDS12957.1																																																																																				0.471	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			22	42						22	42	---	---	---	---	-	58152476	CAAA	-	58152473	7	5	41	1	0	1	0	1	0	0	0	0	17782	827	29	0	672	0	ZNF211	19	58152473	Frame_Shift_Del	DEL	CAAA	TCGA-NA-A4QX-01A-11D-A28R-08	5436261	58152473	976510	35	3950										
SYNJ1	8867	broad.mit.edu	37	chr21	34053869	34053869	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	ctgattgaatcaccattcacGgaccacattgaccgaaaaac	6	12	2	3			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr21:34053869G>A	ENST00000322229.7	-	10	1289	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S	SYNJ1_ENST00000382499.2_Silent_p.S469S|SYNJ1_ENST00000433931.2_Silent_p.S469S|SYNJ1_ENST00000382491.3_Silent_p.S430S|SYNJ1_ENST00000357345.3_Silent_p.S430S			O43426	SYNJ1_HUMAN	synaptojanin 1	430	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)	p.S430S(1)		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						CACCATTCACGGACCACATTG	0.398																																						ENST00000382499.2																			1	Substitution - coding silent(1)	p.S430S(1)	lung(1)	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.(1405-1407)tcC>tcT		synaptojanin 1							148	143	145					21																	34053869		2203	4300	6503	SO:0001819	synonymous_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34053869G>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.1290C>T	21.37:g.34053869G>A			Somatic				SYNJ1_ENST00000322229.7_Silent_p.S430S|SYNJ1_ENST00000433931.2_Silent_p.S469S|SYNJ1_ENST00000382491.3_Silent_p.S430S|SYNJ1_ENST00000357345.3_Silent_p.S430S	p.S469S	NM_203446.2	NP_982271.2	WXS	Illumina GAIIx	Phase_I	O43426	SYNJ1_HUMAN			11	1406	-			430					O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	c.1407C>T	CCDS54484.1																																																																																				0.398	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				22	60	0	0	0	1	0	22	60					A	34053869	G	A	34053869	2	1	41	1	0	0	0	0	0	0	0	1	15467	1103	39	1		1	SYNJ1	21	34053869	Silent	SNP	G	TCGA-NA-A4QX-01A-11D-A28R-08		34053869	14076026	36	3951										
SCML2	10389	broad.mit.edu	37	chrX	18338512	18338512	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	agtgtctttaagaggaacatCggccaggaggatgtattcat	12	6	2	1			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:18338512C>A	ENST00000251900.4	-	6	585	c.426G>T	c.(424-426)ccG>ccT	p.P142P		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	142					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AGAGGAACATCGGCCAGGAGG	0.333																																					Esophageal Squamous(100;1252 1965 19021 35517)	ENST00000251900.4																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(424-426)ccG>ccT		sex comb on midleg-like 2 (Drosophila)							89	78	82					X																	18338512		2203	4300	6503	SO:0001819	synonymous_variant	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18338512C>A	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"Sterile alpha motif (SAM) domain containing"	10581	protein-coding gene	gene with protein product		300208	"sex comb on midleg (Drosophila)-like 2"			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.426G>T	X.37:g.18338512C>A			Somatic					p.P142P	NM_006089.2	NP_006080.1	WXS	Illumina GAIIx	Phase_I	Q9UQR0	SCML2_HUMAN			6	585	-	Hepatocellular(33;0.183)		142					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Silent	SNP	ENST00000251900.4	37	c.426G>T	CCDS14185.1																																																																																				0.333	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		7	15	1	0	5.18039e-06	1	5.55042e-06	7	15					A	18338512	C	A	18338512	2	1	41	1	0	0	0	0	0	0	0	1	13925	871	31	2		2	SCML2	23	18338512	Silent	SNP	C	TCGA-NA-A4QX-01A-11D-A28R-08		18338512	136932048	37	3952										
SHROOM4	57477	broad.mit.edu	37	chrX	50351176	50351176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	aaaagctagtcttggaatgaGccatttccctgcaaaacatc	7	10	1	1			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:50351176G>A	ENST00000289292.7	-	6	3249	c.2966C>T	c.(2965-2967)gCt>gTt	p.A989V	SHROOM4_ENST00000460112.3_Missense_Mutation_p.A873V|SHROOM4_ENST00000376020.2_Missense_Mutation_p.A989V			Q9ULL8	SHRM4_HUMAN	shroom family member 4	989					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTTGGAATGAGCCATTTCCCT	0.408																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(2965-2967)gCt>gTt		shroom family member 4							41	39	40					X																	50351176		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50351176G>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2966C>T	X.37:g.50351176G>A	ENSP00000289292:p.Ala989Val		Somatic				SHROOM4_ENST00000289292.7_Missense_Mutation_p.A989V|SHROOM4_ENST00000460112.3_Missense_Mutation_p.A873V	p.A989V	NM_020717.3	NP_065768.2	WXS	Illumina GAIIx	Phase_I	Q9ULL8	SHRM4_HUMAN			6	2991	-	Ovarian(276;0.236)		989					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.2966C>T	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890225	0.52014	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.14391	2.93;2.93;2.51	5.64	5.64	0.86602	.	0.660669	0.14429	N	0.320141	T	0.20577	0.0495	L	0.34521	1.04	0.30167	N	0.801682	D	0.55172	0.97	P	0.54346	0.749	T	0.03630	-1.1018	10	0.66056	D	0.02	.	11.7356	0.51763	0.0:0.1731:0.8269:0.0	.	989	Q9ULL8	SHRM4_HUMAN	V	989;989;873	ENSP00000289292:A989V;ENSP00000365188:A989V;ENSP00000421450:A873V	ENSP00000289292:A989V	A	-	2	0	SHROOM4	50367916	0.993000	0.37304	1.000000	0.80357	0.955000	0.61496	2.303000	0.43646	2.361000	0.80049	0.600000	0.82982	GCT		0.408	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		10	13	0	0	0	1	0	10	13					A	50351176	G	A	50351176	3	1	41	1	0	0	0	0	1	0	0	0	14311	971	34	3	1531	3	SHROOM4	23	50351176	Missense_Mutation	SNP	G	TCGA-NA-A4QX-01A-11D-A28R-08	32012664	50351176	104919384	38	3953										
ZC3H12B	340554	broad.mit.edu	37	chrX	64719785	64719785	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	ttatgcctccagatgatccaTtaggacgccacggcccaagc	9	14	0	2			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:64719785T>C	ENST00000338957.4	+	4	1073	c.1006T>C	c.(1006-1008)Tta>Cta	p.L336L	ZC3H12B_ENST00000423889.3_Silent_p.L325L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	336							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGATGATCCATTAGGACGCCA	0.438																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1006-1008)Tta>Cta		zinc finger CCCH-type containing 12B							165	155	158					X																	64719785		1954	4146	6100	SO:0001819	synonymous_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64719785T>C	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1006T>C	X.37:g.64719785T>C			Somatic				ZC3H12B_ENST00000423889.3_Silent_p.L325L	p.L336L	NM_001010888.3	NP_001010888.3	WXS	Illumina GAIIx	Phase_I	Q5HYM0	ZC12B_HUMAN			4	1073	+			325					B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	ENST00000338957.4	37	c.1006T>C	CCDS48131.2																																																																																				0.438	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		62	87	0	0	0	1	0	62	87					C	64719785	T	C	64719785	2	2	41	1	0	0	0	0	0	0	0	1	17577	1490	52	4		4	ZC3H12B	23	64719785	Silent	SNP	T	TCGA-NA-A4QX-01A-11D-A28R-08	14368609	64719785	90550775	39	3954										
IDH3G	3421	broad.mit.edu	37	chrX	153051890	153051890	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	ttattggcgatactcttgccGgtgttcctcgtagcctgggg	13	10	1	0	rs373358098		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:153051890G>A	ENST00000217901.5	-	11	1135	c.939C>T	c.(937-939)acC>acT	p.T313T	IDH3G_ENST00000427365.2_Silent_p.T255T|IDH3G_ENST00000370092.3_Silent_p.T313T|IDH3G_ENST00000370093.1_Silent_p.T313T|IDH3G_ENST00000497043.1_5'Flank	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	313					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	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)					TACTCTTGCCGGTGTTCCTCG	0.612																																						ENST00000370092.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17						c.(937-939)acC>acT		isocitrate dehydrogenase 3 (NAD+) gamma	NADH(DB00157)		,	0,3812		0,0,1627,558	132	75	94		939,939	-10.9	0.6	X		94	1,6713		0,1,2426,1860	no	coding-synonymous,coding-synonymous	IDH3G	NM_004135.2,NM_174869.1	,	0,1,4053,2418	AA,AG,GG,G		0.0149,0.0,0.0095	,	313/394,313/381	153051890	1,10525	2185	4287	6472	SO:0001819	synonymous_variant	3421				carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chrX:153051890G>A		CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.939C>T	X.37:g.153051890G>A			Somatic				IDH3G_ENST00000370093.1_Silent_p.T313T|IDH3G_ENST00000427365.2_Silent_p.T255T|IDH3G_ENST00000217901.5_Silent_p.T313T	p.T313T	NM_174869.2	NP_777358.1	WXS	Illumina GAIIx	Phase_I	P51553	IDH3G_HUMAN			11	1124	-	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)		313					E9PDD5|Q9BUU5	Silent	SNP	ENST00000217901.5	37	c.939C>T	CCDS14730.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	3.340|3.340	-0.134767|-0.134767	0.06711|0.06711	0.0|0.0	1.49E-4|1.49E-4	ENSG00000067829|ENSG00000067829	ENST00000424541|ENST00000454076	.|.	.|.	.|.	5.46|5.46	-10.9|-10.9	0.00192|0.00192	.|.	.|.	.|.	.|.	.|.	T|T	0.33760|0.33760	0.0874|0.0874	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41752|0.41752	-0.9491|-0.9491	4|4	.|.	.|.	.|.	.|.	2.9696|2.9696	0.05918|0.05918	0.4827:0.1224:0.0832:0.3117|0.4827:0.1224:0.0832:0.3117	.|.	.|.	.|.	.|.	L|W	75|119	.|.	.|.	P|R	-|-	2|1	0|2	IDH3G|IDH3G	152705084|152705084	0.000000|0.000000	0.05858|0.05858	0.610000|0.610000	0.28997|0.28997	0.479000|0.479000	0.33129|0.33129	-5.011000|-5.011000	0.00160|0.00160	-2.472000|-2.472000	0.00529|0.00529	-2.928000|-2.928000	0.00088|0.00088	CCG|CGG		0.612	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27			6	6	0	0	0	1	0	6	6					A	153051890	G	A	153051890	2	1	41	1	0	0	0	0	0	0	0	1	7507	1103	39	1		1	IDH3G	23	153051890	Silent	SNP	G	TCGA-NA-A4QX-01A-11D-A28R-08	88332105	153051890	2218670	40	3955										
TAZ	6901	broad.mit.edu	37	chrX	153649045	153649045	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	tcagtgccctgcctgtactcGagcggctccgggcggagaac	14	14	1	1			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:153649045G>C	ENST00000350743.4	+	9	947	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	TAZ_ENST00000369790.4_Missense_Mutation_p.E206Q|TAZ_ENST00000475699.1_Missense_Mutation_p.E223Q|TAZ_ENST00000369776.4_Missense_Mutation_p.E220Q|TAZ_ENST00000299328.5_Missense_Mutation_p.E250Q|TAZ_ENST00000351413.4_Missense_Mutation_p.E236Q|TAZ_ENST00000498029.1_3'UTR	NM_181311.2	NP_851828.1	Q9GZV5	WWTR1_HUMAN	tafazzin	0	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			lung(1)	1	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)					GCCTGTACTCGAGCGGCTCCG	0.647																																						ENST00000299328.5																			0				lung(1)	1						c.(748-750)Gag>Cag		tafazzin							71	67	68					X																	153649045		2203	4300	6503	SO:0001583	missense	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153649045G>C	X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"Barth syndrome"	300394	"endocardial fibroelastosis 2", "cardiomyopathy, dilated 3A (X-linked)"	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000350743.4:c.658G>C	X.37:g.153649045G>C	ENSP00000338891:p.Glu220Gln		Somatic				TAZ_ENST00000351413.4_Missense_Mutation_p.E236Q|TAZ_ENST00000369790.4_Missense_Mutation_p.E206Q|TAZ_ENST00000350743.4_Missense_Mutation_p.E220Q|TAZ_ENST00000369776.4_Missense_Mutation_p.E220Q|TAZ_ENST00000498029.1_3'UTR	p.E250Q	NM_000116.3	NP_000107.1	WXS	Illumina GAIIx	Phase_I	Q16635	TAZ_HUMAN			10	1037	+	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)		250					D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000350743.4	37	c.748G>C	CCDS14749.1	.	.	.	.	.	.	.	.	.	.	G	9.977	1.227210	0.22542	.	.	ENSG00000102125	ENST00000369790;ENST00000299328;ENST00000350743;ENST00000351413;ENST00000369776;ENST00000475699	D;D;D;D;D;D	0.99051	-5.32;-5.35;-5.37;-5.34;-5.0;-5.21	4.79	3.93	0.45458	.	0.261168	0.36893	N	0.002351	D	0.98235	0.9416	L	0.43152	1.355	0.34595	D	0.715935	P;P;P;P;B;D	0.76494	0.582;0.643;0.493;0.73;0.438;0.999	B;B;B;B;B;D	0.79108	0.241;0.382;0.183;0.223;0.232;0.992	D	0.97447	1.0025	10	0.16896	T	0.51	-2.2207	7.0554	0.25095	0.2129:0.0:0.7871:0.0	.	254;220;206;220;236;250	A6XNE1;Q96F92;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;.;TAZ_HUMAN	Q	206;250;220;236;220;223	ENSP00000358805:E206Q;ENSP00000299328:E250Q;ENSP00000338891:E220Q;ENSP00000218246:E236Q;ENSP00000358791:E220Q;ENSP00000419854:E223Q	ENSP00000299328:E250Q	E	+	1	0	TAZ	153302239	1.000000	0.71417	0.803000	0.32268	0.254000	0.26022	5.633000	0.67825	0.839000	0.34971	0.525000	0.51046	GAG		0.647	TAZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080939.1			20	81	0	0	0	1	0	20	81					C	153649045	G	C	153649045	3	2	41	1	0	0	0	0	1	0	0	0	15611	1059	37	2	786	2	TAZ	23	153649045	Missense_Mutation	SNP	G	TCGA-NA-A4QX-01A-11D-A28R-08	597155	153649045	1621515	41	3956										
SLC10A3	8273	broad.mit.edu	37	chrX	153716854	153716854	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.024390243902439	1	1	0.386306846576712	0	0.423097974822113	1	1	0	agctggatgtggagtggggcCagcccagccaggcctgagtg	18	10	0	1			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:153716854C>T	ENST00000393587.4	-	3	689	c.426G>A	c.(424-426)ctG>ctA	p.L142L	SLC10A3_ENST00000369649.4_Intron|UBL4A_ENST00000369653.4_5'Flank|UBL4A_ENST00000477777.1_5'Flank|UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000393586.1_Silent_p.L197L|SLC10A3_ENST00000263512.4_Silent_p.L142L	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	142					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAGTGGGGCCAGCCCAGCCA	0.612																																						ENST00000263512.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(424-426)ctG>ctA		solute carrier family 10, member 3							62	58	59					X																	153716854		2203	4299	6502	SO:0001819	synonymous_variant	8273				organic anion transport	integral to membrane	bile acid:sodium symporter activity	g.chrX:153716854C>T	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"Solute carriers"	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.426G>A	X.37:g.153716854C>T			Somatic				SLC10A3_ENST00000393587.4_Silent_p.L142L|SLC10A3_ENST00000393586.1_Silent_p.L197L|SLC10A3_ENST00000369649.4_Intron	p.L142L	NM_019848.3	NP_062822.1	WXS	Illumina GAIIx	Phase_I	P09131	P3_HUMAN			2	924	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		142					Q5HY79|Q9BSL2	Silent	SNP	ENST00000393587.4	37	c.426G>A	CCDS14755.1																																																																																				0.612	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		43	70	0	0	0	1	0	43	70					T	153716854	C	T	153716854	2	4	41	1	0	0	0	0	0	0	0	1	14390	581	21	3		3	SLC10A3	23	153716854	Silent	SNP	C	TCGA-NA-A4QX-01A-11D-A28R-08	67809	153716854	1553706	42	3957										
MYOM3	127294	broad.mit.edu	37	chr1	24417411	24417411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	tagctctgaccttcgacgagGccttggattgggcaccgaca	12	12	1	1			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:24417411G>A	ENST00000374434.3	-	12	1470	c.1308C>T	c.(1306-1308)ggC>ggT	p.G436G	MYOM3_ENST00000329601.7_Silent_p.G436G|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Silent_p.G437G	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	436	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTCGACGAGGCCTTGGATTG	0.637																																						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.(1309-1311)ggC>ggT		myomesin 3							99	108	105					1																	24417411		2070	4192	6262	SO:0001819	synonymous_variant	127294							g.chr1:24417411G>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.1308C>T	1.37:g.24417411G>A			Somatic				MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.G436G|MYOM3_ENST00000374434.3_Silent_p.G436G	p.G437G			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)	12	1473	-		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)	436			Fibronectin type-III 1.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.1311C>T	CCDS41281.1																																																																																				0.637	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		58	96	0	0	0	1	0	58	96					A	24417411	G	A	24417411	2	1	42	1	0	0	0	0	0	0	0	1	10102	1190	42	3		3	MYOM3	1	24417411	Silent	SNP	G	TCGA-NA-A4QY-01A-11D-A28R-08		24417411	224833210	1	3958										
ARID1A	8289	broad.mit.edu	37	chr1	27106580	27106580	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	ggaaaacaccttggttacacTcgccaacatctcggggcagt	10	12	1	0			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:27106580T>G	ENST00000324856.7	+	20	6562	c.6191T>G	c.(6190-6192)cTc>cGc	p.L2064R	ARID1A_ENST00000540690.1_Missense_Mutation_p.L392R|ARID1A_ENST00000374152.2_Missense_Mutation_p.L1681R|ARID1A_ENST00000457599.2_Missense_Mutation_p.L1847R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2064					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)		TTGGTTACACTCGCCAACATC	0.557			"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.(6190-6192)cTc>cGc		AT rich interactive domain 1A (SWI-like)							136	137	137					1																	27106580		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.chr1:27106580T>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.6191T>G	1.37:g.27106580T>G	ENSP00000320485:p.Leu2064Arg		Somatic				ARID1A_ENST00000374152.2_Missense_Mutation_p.L1681R|ARID1A_ENST00000457599.2_Missense_Mutation_p.L1847R|ARID1A_ENST00000540690.1_Missense_Mutation_p.L392R	p.L2064R	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	6562	+		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)	2064					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.6191T>G	CCDS285.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916726	0.73098	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T;T;T;T	0.71698	0.89;0.89;0.89;-0.59	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.84447	0.5474	M	0.81239	2.535	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.86848	0.2021	10	0.87932	D	0	-10.1896	15.3414	0.74300	0.0:0.0:0.0:1.0	.	1681;2064;1847	O14497-3;O14497;O14497-2	.;ARI1A_HUMAN;.	R	2064;1847;1681;392	ENSP00000320485:L2064R;ENSP00000387636:L1847R;ENSP00000363267:L1681R;ENSP00000442437:L392R	ENSP00000320485:L2064R	L	+	2	0	ARID1A	26979167	1.000000	0.71417	0.585000	0.28666	0.975000	0.68041	7.676000	0.84012	2.273000	0.75805	0.482000	0.46254	CTC		0.557	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		86	104	0	0	0	1	0	86	104					G	27106580	T	G	27106580	3	3	42	1	0	0	0	0	1	0	0	0	913	1551	54	4	6269	4	ARID1A	1	27106580	Missense_Mutation	SNP	T	TCGA-NA-A4QY-01A-11D-A28R-08	2689169	27106580	222144041	2	3959										
IQCC	55721	broad.mit.edu	37	chr1	32671482	32671482	+	Intron	DEL	G	G	-													0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	caaccgcgctgaggaaagctGggacccacggactccctgcc							TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:32671482delG	ENST00000291358.6	+	1	63				RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000537469.1_Frame_Shift_Del_p.W67fs	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C											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)				GAGGAAAGCTGGGACCCACGG	0.657																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(199-201)tgfs		IQ motif containing C							21	18	19					1																	32671482		692	1591	2283	SO:0001627	intron_variant	55721							g.chr1:32671482delG	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.42+158G>-	1.37:g.32671482delG			Somatic				IQCC_ENST00000291358.6_Intron|RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA	p.W67fs	NM_001160042.1	NP_001153514.1	WXS	Illumina GAIIx	Phase_I	Q4KMZ1	IQCC_HUMAN			1	247	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	328					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Frame_Shift_Del	DEL	ENST00000291358.6	37	c.200delG	CCDS355.1																																																																																				0.657	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		2	4						2	4	---	---	---	---	-	32671482	G	-	32671482	6	5	42	0	1	1	0	1	0	0	0	0	7813	1357	47	0		0	IQCC	1	32671482	Intron	DEL	G	TCGA-NA-A4QY-01A-11D-A28R-08	5564902	32671482	216579139	3	3960										
GRIK3	2899	broad.mit.edu	37	chr1	37291395	37291395	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	gccttctctcgaacatgggtGatggtcaggggggccacggc	16	11	2	1			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:37291395G>C	ENST00000373091.3	-	11	1579	c.1563C>G	c.(1561-1563)atC>atG	p.I521M	GRIK3_ENST00000373093.4_Missense_Mutation_p.I521M	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	521					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)				GAACATGGGTGATGGTCAGGG	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.(1561-1563)atC>atG		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						103	97	99					1																	37291395		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.chr1:37291395G>C	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1563C>G	1.37:g.37291395G>C	ENSP00000362183:p.Ile521Met		Somatic				GRIK3_ENST00000373093.4_Missense_Mutation_p.I521M	p.I521M	NM_000831.3	NP_000822.2	WXS	Illumina GAIIx	Phase_I	Q13003	GRIK3_HUMAN			11	1579	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	521					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1563C>G	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194851	0.58017	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.16743	2.32;2.32	5.25	5.25	0.73442	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	M	0.83118	2.625	0.47214	D	0.999359	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.48422	-0.9037	10	0.87932	D	0	.	13.7809	0.63081	0.0:0.0:0.8466:0.1534	.	521;521	A9Z1Z8;Q13003	.;GRIK3_HUMAN	M	521	ENSP00000362183:I521M;ENSP00000362185:I521M	ENSP00000362183:I521M	I	-	3	3	GRIK3	37063982	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	1.884000	0.39668	2.443000	0.82685	0.462000	0.41574	ATC		0.542	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		8	131	0	0	0	1	0	8	131					C	37291395	G	C	37291395	3	2	42	1	0	0	0	0	1	0	0	0	6784	1280	45	2	1220	2	GRIK3	1	37291395	Missense_Mutation	SNP	G	TCGA-NA-A4QY-01A-11D-A28R-08	4619913	37291395	211959226	4	3961										
HPCAL4	51440	broad.mit.edu	37	chr1	40148381	40148381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	gttcatgcgcatcatgatcaCggtgcccaccatcttgtaga	9	12	4	2			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:40148381C>T	ENST00000372844.3	-	4	794	c.403G>A	c.(403-405)Gtg>Atg	p.V135M		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	135					central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ATCATGATCACGGTGCCCACC	0.562																																						ENST00000372844.3																			0				breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8						c.(403-405)Gtg>Atg		hippocalcin like 4							92	79	83					1																	40148381		2203	4300	6503	SO:0001583	missense	51440				central nervous system development	intracellular	calcium ion binding	g.chr1:40148381C>T	AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"EF-hand domain containing"	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.403G>A	1.37:g.40148381C>T	ENSP00000361935:p.Val135Met		Somatic					p.V135M	NM_016257.2	NP_057341.1	WXS	Illumina GAIIx	Phase_I	Q9UM19	HPCL4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		4	794	-	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	135					B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	ENST00000372844.3	37	c.403G>A	CCDS441.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.554902	0.86231	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.67345	-0.26	4.54	4.54	0.55810	EF-hand-like domain (1);	0.000000	0.64402	D	0.000003	T	0.76737	0.4029	L	0.47016	1.485	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.71656	0.974;0.564	T	0.76929	-0.2777	10	0.45353	T	0.12	.	18.1681	0.89734	0.0:1.0:0.0:0.0	.	63;135	B4DGW9;Q9UM19	.;HPCL4_HUMAN	M	135;127	ENSP00000361935:V135M	ENSP00000361935:V135M	V	-	1	0	HPCAL4	39920968	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.655000	0.83696	2.473000	0.83533	0.313000	0.20887	GTG		0.562	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025640.1	NM_016257		32	57	0	0	0	1	0	32	57					T	40148381	C	T	40148381	3	4	42	1	0	0	0	0	1	0	0	0	7340	536	19	1	176	1	HPCAL4	1	40148381	Missense_Mutation	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08	2856986	40148381	209102240	5	3962										
C1orf114	57821	broad.mit.edu	37	chr1	169391086	169391086	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	gagcacatcttcttgtccaaAatcattggaaatacataatt	5	8	3	0			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:169391086A>T	ENST00000367806.3	-	3	735	c.583T>A	c.(583-585)Ttt>Att	p.F195I	CCDC181_ENST00000545005.1_Missense_Mutation_p.F195I|CCDC181_ENST00000367805.3_Missense_Mutation_p.F195I|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	195						nucleus (GO:0005634)											TCTTGTCCAAAATCATTGGAA	0.348																																						ENST00000545005.1																			0											c.(583-585)Ttt>Att		coiled-coil domain containing 181							83	86	85					1																	169391086		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169391086A>T	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 114"	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.583T>A	1.37:g.169391086A>T	ENSP00000356780:p.Phe195Ile		Somatic				CCDC181_ENST00000367806.3_Missense_Mutation_p.F195I|CCDC181_ENST00000367805.3_Missense_Mutation_p.F195I|CCDC181_ENST00000491570.1_5'UTR	p.F195I			WXS	Illumina GAIIx	Phase_I					4	1090	-								O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.583T>A		.	.	.	.	.	.	.	.	.	.	A	8.115	0.779625	0.16120	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.21361	2.02;2.02;2.02;2.01	5.42	-3.34	0.04943	.	1.182100	0.05948	N	0.638235	T	0.03739	0.0106	L	0.31294	0.92	0.22803	N	0.998714	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.41752	-0.9491	9	0.19147	T	0.46	-0.0014	5.36	0.16083	0.1882:0.0:0.2673:0.5444	.	195;195;195	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	I	195	ENSP00000356779:F195I;ENSP00000356780:F195I;ENSP00000442297:F195I;ENSP00000411000:F195I	ENSP00000356779:F195I	F	-	1	0	C1orf114	167657710	0.000000	0.05858	0.672000	0.29872	0.713000	0.41058	-0.158000	0.10070	-0.215000	0.10063	0.455000	0.32223	TTT		0.348	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		38	58	0	0	0	1	0	38	58					T	169391086	A	T	169391086	3	4	42	1	0	0	0	0	1	0	0	0	1989	14	1	4	959	4	C1orf114	1	169391086	Missense_Mutation	SNP	A	TCGA-NA-A4QY-01A-11D-A28R-08	129242705	169391086	79859535	6	3963										
TRIM17	51127	broad.mit.edu	37	chr1	228595913	228595913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	ggtctgtgtctatcctttcaCccacatggtcactgtggaga	10	11	4	1			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:228595913C>T	ENST00000366697.2	-	6	2379	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	TRIM17_ENST00000366698.2_Missense_Mutation_p.V475M|TRIM11_ENST00000493030.2_5'Flank|TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000295033.3_Missense_Mutation_p.V475M|RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000366699.3_5'Flank			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	475	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TATCCTTTCACCCACATGGTC	0.617																																						ENST00000366697.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(1423-1425)Gtg>Atg		tripartite motif containing 17							71	77	75					1																	228595913		2203	4300	6503	SO:0001583	missense	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228595913C>T	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13430	protein-coding gene	gene with protein product	"ring finger protein 16", "RING finger protein terf", "testis RING finger protein"	606123	"tripartite motif-containing 17"	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.1423G>A	1.37:g.228595913C>T	ENSP00000355658:p.Val475Met		Somatic				TRIM17_ENST00000366698.2_Missense_Mutation_p.V475M|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000295033.3_Missense_Mutation_p.V475M	p.V475M			WXS	Illumina GAIIx	Phase_I	Q9Y577	TRI17_HUMAN			6	2379	-		Prostate(94;0.0724)	475			B30.2/SPRY.		B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	c.1423G>A	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516126	0.64634	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033	T;T;T	0.52983	0.64;0.64;0.64	4.07	4.07	0.47477	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.198835	0.24933	N	0.034449	T	0.51975	0.1706	N	0.22421	0.69	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.53373	-0.8448	10	0.56958	D	0.05	.	12.0576	0.53544	0.0:1.0:0.0:0.0	.	475	Q9Y577	TRI17_HUMAN	M	475	ENSP00000355658:V475M;ENSP00000355659:V475M;ENSP00000295033:V475M	ENSP00000295033:V475M	V	-	1	0	TRIM17	226662536	0.995000	0.38212	1.000000	0.80357	0.787000	0.44495	1.447000	0.35101	2.538000	0.85594	0.655000	0.94253	GTG		0.617	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		23	124	0	0	0	1	0	23	124					T	228595913	C	T	228595913	3	4	42	1	0	0	0	0	1	0	0	0	16508	507	18	3	14	3	TRIM17	1	228595913	Missense_Mutation	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08	59204827	228595913	20654708	7	3964										
URB2	9816	broad.mit.edu	37	chr1	229763491	229763492	+	Frame_Shift_Ins	INS	-	-	G													0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	tttctcaccagtgctttcttINSccaaataaagaacaagtaag							TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:229763491_229763492insG	ENST00000258243.2	+	2	247_248	c.111_112insG	c.(112-114)ccafs	p.P38fs	TAF5L_ENST00000258281.2_5'Flank|TAF5L_ENST00000366675.3_5'Flank|TAF5L_ENST00000477957.1_5'Flank|TAF5L_ENST00000366674.1_5'Flank	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	38						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.P38T(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						AGTGCTTTCTTCCAAATAAAGA	0.307																																						ENST00000258243.2																			1	Substitution - Missense(1)	p.P38T(1)	large_intestine(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.(109-114)ctcaaafs		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	9816					nucleolus		g.chr1:229763491_229763492insG	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	Exception_encountered	1.37:g.229763491_229763492insG	ENSP00000258243:p.Pro38fs		Somatic					p.K38fs	NM_014777.2	NP_055592.2	WXS	Illumina GAIIx	Phase_I	Q14146	URB2_HUMAN			2	247_248	+			38					Q5VYC9	Frame_Shift_Ins	INS	ENST00000258243.2	37	c.111_112insG	CCDS31052.1																																																																																				0.307	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		14	68						14	68	---	---	---	---	G	229763492	-	G	229763491	7	5	42	1	0	1	1	0	0	0	0	0	17040	1770	62	0	113	0	URB2	1	229763491	Frame_Shift_Ins	INS	-	TCGA-NA-A4QY-01A-11D-A28R-08	1167578	229763491	19487130	8	3965										
SMC6	79677	broad.mit.edu	37	chr2	17912350	17912350	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	aaattcaccaattacctggaTgttaaaatgatcaagaattg	6	6	2	2			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr2:17912350T>C	ENST00000448223.2	-	7	807	c.538A>G	c.(538-540)Atc>Gtc	p.I180V	SMC6_ENST00000402989.1_Missense_Mutation_p.I180V|SMC6_ENST00000351948.4_Missense_Mutation_p.I180V|SMC6_ENST00000381272.4_Missense_Mutation_p.I206V	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	180					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTACCTGGATGTTAAAATGA	0.343																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(538-540)Atc>Gtc		structural maintenance of chromosomes 6							89	88	88					2																	17912350		2203	4300	6503	SO:0001583	missense	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17912350T>C	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.538A>G	2.37:g.17912350T>C	ENSP00000404092:p.Ile180Val		Somatic				SMC6_ENST00000402989.1_Missense_Mutation_p.I180V|SMC6_ENST00000351948.4_Missense_Mutation_p.I180V|SMC6_ENST00000381272.4_Missense_Mutation_p.I206V	p.I180V	NM_001142286.1	NP_001135758.1	WXS	Illumina GAIIx	Phase_I	Q96SB8	SMC6_HUMAN			7	807	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		180					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.538A>G	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299384	0.81136	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.73789	-0.78;-0.78;3.21;-0.78;3.21	6.07	4.89	0.63831	RecF/RecN/SMC (1);	0.040946	0.85682	D	0.000000	D	0.85026	0.5603	M	0.79011	2.435	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.75484	0.976;0.95;0.986	D	0.85567	0.1231	10	0.56958	D	0.05	.	12.2544	0.54615	0.1276:0.0:0.0:0.8724	.	206;206;180	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	V	180;180;206;180;206	ENSP00000404092:I180V;ENSP00000323439:I180V;ENSP00000370672:I206V;ENSP00000384539:I180V;ENSP00000408644:I206V	ENSP00000323439:I180V	I	-	1	0	SMC6	17775831	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.977000	0.76141	1.079000	0.41038	0.477000	0.44152	ATC		0.343	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		3	39	0	0	0	1	0	3	39					C	17912350	T	C	17912350	3	2	42	1	0	0	0	0	1	0	0	0	14802	1464	51	4	2825	4	SMC6	2	17912350	Missense_Mutation	SNP	T	TCGA-NA-A4QY-01A-11D-A28R-08		17912350	225287023	9	3966										
NT5C1B	93034	broad.mit.edu	37	chr2	18765801	18765801	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	ggccaggggcgcgagcagctCgggttcttctcgtagaacga	16	11	2	1	rs372417853		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr2:18765801C>T	ENST00000359846.2	-	5	959	c.882G>A	c.(880-882)ccG>ccA	p.P294P	NT5C1B_ENST00000600945.1_Silent_p.P294P|NT5C1B-RDH14_ENST00000532967.1_Silent_p.P294P|NT5C1B_ENST00000304081.4_Silent_p.P234P|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000460052.1_5'Flank	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	294					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCGAGCAGCTCGGGTTCTTCT	0.687																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(700-702)ccG>ccA		5'-nucleotidase, cytosolic IB		C	,,,,,,	1,4375		0,1,2187	11	13	12		882,831,933,888,708,882,702	-2.2	0	2		12	1,8579		0,1,4289	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NT5C1B,NT5C1B-RDH14	NM_001002006.2,NM_001199086.1,NM_001199087.1,NM_001199088.1,NM_001199103.1,NM_001199104.1,NM_033253.3	,,,,,,	0,2,6476	TT,TC,CC		0.0117,0.0229,0.0154	,,,,,,	294/611,277/594,311/628,296/613,236/651,294/603,234/551	18765801	2,12954	2188	4290	6478	SO:0001819	synonymous_variant	93034							g.chr2:18765801C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.882G>A	2.37:g.18765801C>T			Somatic				NT5C1B_ENST00000600945.1_Silent_p.P294P|NT5C1B-RDH14_ENST00000532967.1_Silent_p.P294P|NT5C1B_ENST00000359846.2_Silent_p.P294P	p.P234P	NM_033253.3	NP_150278.2	WXS	Illumina GAIIx	Phase_I					4	802	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.702G>A	CCDS33150.1																																																																																				0.687	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			13	14	0	0	0	1	0	13	14					T	18765801	C	T	18765801	2	4	42	1	0	0	0	0	0	0	0	1	10695	871	31	1		1	NT5C1B	2	18765801	Silent	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08	853451	18765801	224433572	10	3967										
ARID5A	10865	broad.mit.edu	37	chr2	97215506	97215506	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	ccagttaacctgtggaagatCtacaaagcagtggagaagct	11	8	1	2			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr2:97215506C>G	ENST00000357485.3	+	4	354	c.276C>G	c.(274-276)atC>atG	p.I92M	ARID5A_ENST00000454558.2_Missense_Mutation_p.I24M	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	92	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						TGTGGAAGATCTACAAAGCAG	0.602																																						ENST00000454558.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(70-72)atC>atG		AT rich interactive domain 5A (MRF1-like)							88	84	85					2																	97215506		2203	4300	6503	SO:0001583	missense	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97215506C>G	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"-"	17361	protein-coding gene	gene with protein product	"modulator recognition factor 1"	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.276C>G	2.37:g.97215506C>G	ENSP00000350078:p.Ile92Met		Somatic				ARID5A_ENST00000357485.3_Missense_Mutation_p.I92M	p.I24M			WXS	Illumina GAIIx	Phase_I	Q03989	ARI5A_HUMAN			4	1249	+			92					Q6NX37	Missense_Mutation	SNP	ENST00000357485.3	37	c.72C>G	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521976	0.27211	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T;T	0.63913	-0.07;-0.07	4.85	3.98	0.46160	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.64402	D	0.000003	T	0.49695	0.1572	N	0.03608	-0.345	0.42331	D	0.992293	P	0.35844	0.524	P	0.53954	0.738	T	0.47142	-0.9140	10	0.13470	T	0.59	-23.1467	8.8897	0.35425	0.0:0.8994:0.0:0.1006	.	92	Q03989	ARI5A_HUMAN	M	92;92;24	ENSP00000350078:I92M;ENSP00000400785:I24M	ENSP00000350078:I92M	I	+	3	3	ARID5A	96579233	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.078000	0.30754	1.296000	0.44742	0.555000	0.69702	ATC		0.602	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		32	56	0	0	0	1	0	32	56					G	97215506	C	G	97215506	3	3	42	1	0	0	0	0	1	0	0	0	921	903	32	2	290	2	ARID5A	2	97215506	Missense_Mutation	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08	78449705	97215506	145983867	11	3968										
CCDC141	285025	broad.mit.edu	37	chr2	179737016	179737016	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	aggtacacttcatttttcacAtctaatatctcgttctcttt	3	10	5	0			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr2:179737016A>C	ENST00000420890.2	-	13	2040	c.1923T>G	c.(1921-1923)gaT>gaG	p.D641E	CCDC141_ENST00000295723.5_Missense_Mutation_p.D66E	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	641										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)			CATTTTTCACATCTAATATCT	0.368																																						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.(1921-1923)gaT>gaG		coiled-coil domain containing 141							145	128	134					2																	179737016		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179737016A>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.1923T>G	2.37:g.179737016A>C	ENSP00000395995:p.Asp641Glu		Somatic				CCDC141_ENST00000295723.5_Missense_Mutation_p.D66E	p.D641E	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)		13	2040	-			66					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.1923T>G		.	.	.	.	.	.	.	.	.	.	A	10.45	1.353466	0.24512	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116	T;T;T;T	0.52057	0.68;1.32;1.33;1.37	5.56	3.26	0.37387	.	0.462748	0.19721	N	0.107596	T	0.23133	0.0559	N	0.08118	0	0.20403	N	0.999906	B	0.21071	0.051	B	0.16722	0.016	T	0.10405	-1.0631	10	0.32370	T	0.25	-6.383	5.1034	0.14772	0.6579:0.2408:0.1012:0.0	.	66	Q6ZP82	CC141_HUMAN	E	641;85;66;641;576	ENSP00000395995:D641E;ENSP00000344627:D85E;ENSP00000295723:D66E;ENSP00000390190:D641E	ENSP00000295723:D66E	D	-	3	2	CCDC141	179445261	0.016000	0.18221	0.345000	0.25642	0.108000	0.19459	0.352000	0.20113	0.928000	0.37168	0.416000	0.27883	GAT		0.368	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		14	31	0	0	0	1	0	14	31					C	179737016	A	C	179737016	3	2	42	1	0	0	0	0	1	0	0	0	2777	214	8	4	2473	4	CCDC141	2	179737016	Missense_Mutation	SNP	A	TCGA-NA-A4QY-01A-11D-A28R-08	82521510	179737016	63462357	12	3969										
CLASP2	23122	broad.mit.edu	37	chr3	33552148	33552148	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	cattttgattgcagccagatTaattgggtagtctgcagttt	10	6	1	2			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr3:33552148T>A	ENST00000468888.2	-	37	4289	c.4243A>T	c.(4243-4245)Aat>Tat	p.N1415Y	CLASP2_ENST00000307312.7_Missense_Mutation_p.N896Y|CLASP2_ENST00000480013.1_Missense_Mutation_p.N1194Y|CLASP2_ENST00000359576.5_Missense_Mutation_p.N1406Y|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000461133.3_Missense_Mutation_p.N1174Y|CLASP2_ENST00000399362.4_Missense_Mutation_p.N1414Y			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1195					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						GCAGCCAGATTAATTGGGTAG	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.(4240-4242)Aat>Tat		cytoplasmic linker associated protein 2							152	133	139					3																	33552148		1906	4134	6040	SO:0001583	missense	23122							g.chr3:33552148T>A	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.4243A>T	3.37:g.33552148T>A	ENSP00000419974:p.Asn1415Tyr		Somatic				CLASP2_ENST00000359576.5_Missense_Mutation_p.N1406Y|CLASP2_ENST00000307312.7_Missense_Mutation_p.N896Y|CLASP2_ENST00000461133.3_Missense_Mutation_p.N1174Y|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000480013.1_Missense_Mutation_p.N1194Y|CLASP2_ENST00000468888.2_Missense_Mutation_p.N1415Y	p.N1414Y	NM_015097.2	NP_055912.2	WXS	Illumina GAIIx	Phase_I	B2RTR1	B2RTR1_HUMAN			37	4593	-			1416					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.4240A>T		.	.	.	.	.	.	.	.	.	.	T	34	5.310453	0.95629	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000480013;ENST00000461133	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.79215	0.4408	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.981	T	0.80339	-0.1424	10	0.52906	T	0.07	-29.7018	16.2824	0.82697	0.0:0.0:0.0:1.0	.	1406;1414	F5H604;E7ERI8	.;.	Y	1415;1414;1406;896;1194;1174	ENSP00000419974:N1415Y;ENSP00000382297:N1414Y;ENSP00000352581:N1406Y;ENSP00000304743:N896Y;ENSP00000417518:N1194Y;ENSP00000419305:N1174Y	ENSP00000304743:N896Y	N	-	1	0	CLASP2	33527152	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.717000	0.84732	2.250000	0.74265	0.533000	0.62120	AAT		0.438	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		7	14	0	0	0	1	0	7	14					A	33552148	T	A	33552148	3	1	42	1	0	0	0	0	1	0	0	0	3457	1754	61	4	313	4	CLASP2	3	33552148	Missense_Mutation	SNP	T	TCGA-NA-A4QY-01A-11D-A28R-08		33552148	164470282	13	3970										
DHX30	22907	broad.mit.edu	37	chr3	47889849	47889849	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	cttgagaacctggtgctgcaAgcgaaaatccacatgcctga	10	11	0	2			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr3:47889849A>G	ENST00000445061.1	+	15	2873	c.2466A>G	c.(2464-2466)caA>caG	p.Q822Q	DHX30_ENST00000348968.4_Silent_p.Q794Q|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Silent_p.Q850Q|DHX30_ENST00000446256.2_Silent_p.Q783Q	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	822	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGGTGCTGCAAGCGAAAATCC	0.632																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(2347-2349)caA>caG		DEAH (Asp-Glu-Ala-His) box helicase 30							50	59	56					3																	47889849		2203	4300	6503	SO:0001819	synonymous_variant	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47889849A>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.2466A>G	3.37:g.47889849A>G			Somatic				DHX30_ENST00000445061.1_Silent_p.Q822Q|DHX30_ENST00000348968.4_Silent_p.Q794Q|DHX30_ENST00000457607.1_Silent_p.Q850Q	p.Q783Q	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)	16	2921	+			822			Helicase C-terminal.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	37	c.2349A>G	CCDS2759.1																																																																																				0.632	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		24	43	0	0	0	1	0	24	43					G	47889849	A	G	47889849	2	3	42	1	0	0	0	0	0	0	0	1	4506	69	3	4		4	DHX30	3	47889849	Silent	SNP	A	TCGA-NA-A4QY-01A-11D-A28R-08	14337701	47889849	150132581	14	3971										
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	10	7	1	2	rs121913279		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.H1047R	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	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			266	32	0	0	0	1	0	266	32					G	178952085	A	G	178952085	3	3	42	1	0	0	0	0	1	0	0	0	11922	217	8	4	3218	4	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-NA-A4QY-01A-11D-A28R-08	131062236	178952085	19070345	15	3972										
HTT	3064	broad.mit.edu	37	chr4	3225847	3225847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	tcctgtcccttctctgtctcCggctactacaggtacctgag	8	15	2	1			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr4:3225847C>T	ENST00000355072.5	+	56	7899	c.7754C>T	c.(7753-7755)cCg>cTg	p.P2585L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2585					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)		TCTCTGTCTCCGGCTACTACA	0.512																																						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.(7753-7755)cCg>cTg		huntingtin							134	148	144					4																	3225847		2140	4262	6402	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.chr4:3225847C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.7754C>T	4.37:g.3225847C>T	ENSP00000347184:p.Pro2585Leu		Somatic					p.P2585L	NM_002111.6	NP_002102.4	WXS	Illumina GAIIx	Phase_I	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	56	7899	+		all_epithelial(65;0.18)	2585					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.7754C>T	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828580	0.50845	.	.	ENSG00000197386	ENST00000355072	T	0.04970	3.52	5.53	5.53	0.82687	.	0.192801	0.46758	D	0.000269	T	0.07413	0.0187	L	0.40543	1.245	0.58432	D	0.999998	D	0.54397	0.966	B	0.36989	0.238	T	0.19877	-1.0292	10	0.48119	T	0.1	.	19.4679	0.94950	0.0:1.0:0.0:0.0	.	2585	P42858	HD_HUMAN	L	2585	ENSP00000347184:P2585L	ENSP00000347184:P2585L	P	+	2	0	HTT	3195645	0.997000	0.39634	0.351000	0.25721	0.132000	0.20833	7.142000	0.77339	2.611000	0.88343	0.650000	0.86243	CCG		0.512	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		42	135	0	0	0	1	0	42	135					T	3225847	C	T	3225847	3	4	42	1	0	0	0	0	1	0	0	0	7466	652	23	1	7976	1	HTT	4	3225847	Missense_Mutation	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08		3225847	187928429	16	3973										
EGFLAM	133584	broad.mit.edu	37	chr5	38451444	38451444	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	ggatcaagatcaaatgtgttCatgaggtttaaaacaactgc	9	6	3	2	rs368848352		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr5:38451444C>T	ENST00000354891.3	+	20	2941	c.2595C>T	c.(2593-2595)ttC>ttT	p.F865F	EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000336740.6_Silent_p.F623F|EGFLAM_ENST00000322350.5_Silent_p.F857F|EGFLAM_ENST00000397202.2_Silent_p.F223F	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	865	Laminin G-like 3. {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)					CAAATGTGTTCATGAGGTTTA	0.468																																					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.(2569-2571)ttC>ttT		EGF-like, fibronectin type III and laminin G domains		C	,,,	0,4406		0,0,2203	220	201	207		2595,2571,1869,	5.8	1	5		207	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,utr-5	EGFLAM	NM_001205301.1,NM_152403.3,NM_182798.2,NM_182801.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	865/1018,857/1010,623/776,	38451444	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38451444C>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.2595C>T	5.37:g.38451444C>T			Somatic				EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000354891.3_Silent_p.F865F|EGFLAM_ENST00000397202.2_Silent_p.F223F|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000336740.6_Silent_p.F623F	p.F857F	NM_152403.3	NP_689616.2	WXS	Illumina GAIIx	Phase_I	Q63HQ2	EGFLA_HUMAN			19	2917	+	all_lung(31;0.000385)		865			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.2571C>T	CCDS56363.1																																																																																				0.468	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		46	111	0	0	0	1	0	46	111					T	38451444	C	T	38451444	2	4	42	1	0	0	0	0	0	0	0	1	4968	825	29	3		3	EGFLAM	5	38451444	Silent	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08		38451444	142463816	17	3974										
CYP21A2	1590	broad.mit.edu	37	chr6	31975463	31975463	+	5'Flank	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	cccagattcagcagcgactgTaggaggagctagaccacgaa	12	11	1	2	rs370433041	byFrequency	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr6:31975463T>C	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GCAGCGACTGTAGGAGGAGCT	0.657													C|||	271	0.0541134	0.1324	0.0303	5008	,	,		12708	0.0288		0.0268	False		,,,				2504	0.0194					ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975463T>C																													6.37:g.31975463T>C	Exception_encountered		Somatic						NR_040090.1		WXS	Illumina GAIIx	Phase_I	Q5ST44	Q5ST44_HUMAN			0	1386	+									RNA	SNP	ENST00000594256.1	37																																																																																						0.657	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				5	14	0	0	0	1	0	5	14					C	31975463	T	C	31975463	1	2	42	0	1	0	0	0	0	0	0	0	4155	1651	57	4		4	CYP21A2	6	31975463	5'Flank	SNP	T	TCGA-NA-A4QY-01A-11D-A28R-08		31975463	139139604	18	3975										
GRM4	2914	broad.mit.edu	37	chr6	34101204	34101204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	ggaggaaggcatccaggggcCgtaaaggctgaggagcaggc	19	8	0	1			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr6:34101204C>T	ENST00000538487.2	-	2	513	c.70G>A	c.(70-72)Ggc>Agc	p.G24S	GRM4_ENST00000374181.4_Missense_Mutation_p.G24S|GRM4_ENST00000374177.3_Intron	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	24					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ATCCAGGGGCCGTAAAGGCTG	0.612																																						ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(70-72)Ggc>Agc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)																																			SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34101204C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.70G>A	6.37:g.34101204C>T	ENSP00000440556:p.Gly24Ser		Somatic				GRM4_ENST00000538487.1_Missense_Mutation_p.G24S|GRM4_ENST00000374177.3_Intron	p.G24S	NM_001256810.1	NP_001243739.1	WXS	Illumina GAIIx	Phase_I	Q14833	GRM4_HUMAN			1	239	-			24					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.70G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239922	0.22711	.	.	ENSG00000124493	ENST00000374181;ENST00000538487	D;D	0.87334	-2.24;-2.24	4.19	2.16	0.27623	.	0.252126	0.21490	N	0.073697	T	0.50565	0.1623	N	0.08118	0	0.48632	D	0.999687	B;B	0.32350	0.366;0.366	B;B	0.18871	0.023;0.023	T	0.51639	-0.8680	10	0.20519	T	0.43	.	7.6132	0.28142	0.2912:0.6229:0.0:0.0859	.	24;24	B7ZLU9;Q14833	.;GRM4_HUMAN	S	24	ENSP00000363296:G24S;ENSP00000440556:G24S	ENSP00000363296:G24S	G	-	1	0	GRM4	34209182	0.000000	0.05858	0.820000	0.32676	0.919000	0.55068	0.253000	0.18296	1.070000	0.40811	0.467000	0.42956	GGC		0.612	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			27	22	0	0	0	1	0	27	22					T	34101204	C	T	34101204	3	4	42	1	0	0	0	0	1	0	0	0	6808	652	23	1	2708	1	GRM4	6	34101204	Missense_Mutation	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08	2125741	34101204	137013863	19	3976										
DST	667	broad.mit.edu	37	chr6	56391251	56391251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	gcgctcattgtcctcagctaCcattttctcaagtccttctc	5	15	4	0			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr6:56391251C>T	ENST00000361203.3	-	64	17084	c.17077G>A	c.(17077-17079)Gta>Ata	p.V5693I	DST_ENST00000244364.6_Missense_Mutation_p.V3390I|DST_ENST00000370754.5_Missense_Mutation_p.V5982I|DST_ENST00000370788.2_Missense_Mutation_p.V3607I|DST_ENST00000370769.4_Missense_Mutation_p.V5804I|DST_ENST00000421834.2_Missense_Mutation_p.V3716I|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.V5478I|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5688					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)			TCCTCAGCTACCATTTTCTCA	0.498																																						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.(17944-17946)Gta>Ata		dystonin							270	253	258					6																	56391251		2027	4199	6226	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.chr6:56391251C>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.17077G>A	6.37:g.56391251C>T	ENSP00000354508:p.Val5693Ile		Somatic				DST_ENST00000370769.4_Missense_Mutation_p.V5804I|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.V3607I|DST_ENST00000361203.3_Missense_Mutation_p.V5693I|DST_ENST00000421834.2_Missense_Mutation_p.V3716I|DST_ENST00000244364.6_Missense_Mutation_p.V3390I|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.V5478I	p.V5982I			WXS	Illumina GAIIx	Phase_I	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		69	17943	-	Lung NSC(77;0.103)		5802					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.17944G>A		.	.	.	.	.	.	.	.	.	.	C	14.65	2.598242	0.46318	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.35421	1.35;1.31;1.31;1.35;1.35;1.35;1.35	5.73	4.85	0.62838	.	0.318910	0.22716	N	0.056506	T	0.10895	0.0266	N	0.17764	0.52	0.21782	N	0.999546	B;B;B;B;B	0.25719	0.018;0.034;0.132;0.003;0.035	B;B;B;B;B	0.24006	0.015;0.05;0.05;0.004;0.029	T	0.10042	-1.0647	9	0.25751	T	0.34	.	12.1867	0.54243	0.0:0.8497:0.0:0.1503	.	3716;5804;5982;5802;3390	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	I	3390;5982;5804;3716;5478;3607;5693	ENSP00000244364:V3390I;ENSP00000359790:V5982I;ENSP00000359805:V5804I;ENSP00000400883:V3716I;ENSP00000393645:V5478I;ENSP00000359824:V3607I;ENSP00000354508:V5693I	ENSP00000244364:V3390I	V	-	1	0	DST	56499210	1.000000	0.71417	0.918000	0.36340	0.992000	0.81027	2.476000	0.45171	1.521000	0.48983	0.655000	0.94253	GTA		0.498	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		29	63	0	0	0	1	0	29	63					T	56391251	C	T	56391251	3	4	42	1	0	0	0	0	1	0	0	0	4785	507	18	3	5487	3	DST	6	56391251	Missense_Mutation	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08	22290047	56391251	114723816	20	3977										
SMAP1	60682	broad.mit.edu	37	chr6	71501409	71501409	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	cagatttcctcctctgatgcTcctcttcagcctttggtatc	6	14	3	2			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr6:71501409T>A	ENST00000370455.3	+	5	680	c.432T>A	c.(430-432)gcT>gcA	p.A144A	SMAP1_ENST00000370452.3_Intron|SMAP1_ENST00000316999.5_Intron	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	144					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						CCTCTGATGCTCCTCTTCAGC	0.403																																						ENST00000370455.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(430-432)gcT>gcA		small ArfGAP 1							179	166	170					6																	71501409		1908	4116	6024	SO:0001819	synonymous_variant	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71501409T>A	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"ADP-ribosylation factor GTPase activating proteins"	19651	protein-coding gene	gene with protein product		611372	"stromal membrane-associated protein 1", "stromal membrane-associated GTPase-activating protein 1"			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.432T>A	6.37:g.71501409T>A			Somatic				SMAP1_ENST00000370452.3_Intron|SMAP1_ENST00000316999.5_Intron	p.A144A	NM_001044305.1	NP_001037770.1	WXS	Illumina GAIIx	Phase_I	Q8IYB5	SMAP1_HUMAN			5	680	+			144					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Silent	SNP	ENST00000370455.3	37	c.432T>A	CCDS43478.1	.	.	.	.	.	.	.	.	.	.	T	10.26	1.302286	0.23736	.	.	ENSG00000112305	ENST00000439432	.	.	.	4.16	1.74	0.24563	.	.	.	.	.	T	0.36496	0.0969	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19976	-1.0289	4	.	.	.	-8.2473	5.2323	0.15428	0.1576:0.086:0.0:0.7564	.	.	.	.	T	19	.	.	S	+	1	0	SMAP1	71558130	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.099000	0.41767	0.390000	0.25115	-0.333000	0.08304	TCC		0.403	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		30	35	0	0	0	1	0	30	35					A	71501409	T	A	71501409	2	1	42	1	0	0	0	0	0	0	0	1	14781	1538	54	4		4	SMAP1	6	71501409	Silent	SNP	T	TCGA-NA-A4QY-01A-11D-A28R-08	15110158	71501409	99613658	21	3978										
INHBA	3624	broad.mit.edu	37	chr7	41729399	41729399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	aggggctatggccccgcatgCggtagtggttgatgactgtt	16	8	0	2			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:41729399C>T	ENST00000242208.4	-	3	1376	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.R377H	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	377				RMR -> AC (in Ref. 7; CAA51163). {ECO:0000305}.	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.R377H(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						GCCCCGCATGCGGTAGTGGTT	0.547										TSP Lung(11;0.080)																												ENST00000242208.4																			1	Substitution - Missense(1)	p.R377H(1)	large_intestine(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.(1129-1131)cGc>cAc		inhibin, beta A							130	115	120					7																	41729399		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.chr7:41729399C>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.1130G>A	7.37:g.41729399C>T	ENSP00000242208:p.Arg377His	TSP Lung(11;0.080)	Somatic				INHBA_ENST00000442711.1_Missense_Mutation_p.R377H|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	p.R377H	NM_002192.2	NP_002183.1	WXS	Illumina GAIIx	Phase_I	P08476	INHBA_HUMAN			3	1376	-			377	RMR -> AC (in Ref. 7; CAA51163).				Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.1130G>A	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.430177	0.83776	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.62498	0.02;0.02	5.86	5.86	0.93980	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.80486	0.4632	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79505	-0.1776	10	0.51188	T	0.08	-23.9854	20.1781	0.98191	0.0:1.0:0.0:0.0	.	377	P08476	INHBA_HUMAN	H	377	ENSP00000242208:R377H;ENSP00000397197:R377H	ENSP00000242208:R377H	R	-	2	0	INHBA	41695924	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.751000	0.85126	2.778000	0.95560	0.591000	0.81541	CGC		0.547	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			60	80	0	0	0	1	0	60	80					T	41729399	C	T	41729399	3	4	42	1	0	0	0	0	1	0	0	0	7750	768	27	1	154	1	INHBA	7	41729399	Missense_Mutation	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08		41729399	117409264	22	3979										
ZNF479	90827	broad.mit.edu	37	chr7	57188629	57188629	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	atttgaaaatttaccaaagaCtttgacatatttatgagtct	5	5	1	4			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:57188629C>G	ENST00000331162.4	-	5	763	c.493G>C	c.(493-495)Gtc>Ctc	p.V165L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTACCAAAGACTTTGACATAT	0.308																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(493-495)Gtc>Ctc		zinc finger protein 479							31	30	30					7																	57188629		1812	4056	5868	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188629C>G	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.493G>C	7.37:g.57188629C>G	ENSP00000333776:p.Val165Leu		Somatic					p.V165L	NM_033273.1	NP_150376.1	WXS	Illumina GAIIx	Phase_I	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	763	-			165						Missense_Mutation	SNP	ENST00000331162.4	37	c.493G>C	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	4.835	0.155163	0.09236	.	.	ENSG00000185177	ENST00000331162	T	0.41065	1.01	0.946	-0.838	0.10762	.	.	.	.	.	T	0.32704	0.0838	L	0.61036	1.89	0.09310	N	1	B	0.31077	0.307	B	0.23716	0.048	T	0.25398	-1.0133	9	0.72032	D	0.01	.	3.735	0.08507	0.0:0.6635:0.0:0.3365	.	165	Q96JC4	ZN479_HUMAN	L	165	ENSP00000333776:V165L	ENSP00000333776:V165L	V	-	1	0	ZNF479	57192571	0.006000	0.16342	0.004000	0.12327	0.004000	0.04260	0.918000	0.28678	-0.503000	0.06586	-0.498000	0.04607	GTC		0.308	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		9	19	0	0	0	1	0	9	19					G	57188629	C	G	57188629	3	3	42	1	0	0	0	0	1	0	0	0	17948	565	20	5	1085	5	ZNF479	7	57188629	Missense_Mutation	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08	15459230	57188629	101950034	23	3980										
TBL2	26608	broad.mit.edu	37	chr7	72988397	72988397	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	tgcgatcatctgcacaggtaGccaggtatttgccattgctg	11	10	2	0			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:72988397G>T	ENST00000305632.5	-	3	558	c.317C>A	c.(316-318)gCt>gAt	p.A106D	TBL2_ENST00000452475.1_Missense_Mutation_p.A106D|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.A70D	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	106							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCACAGGTAGCCAGGTATTT	0.577																																						ENST00000305632.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19						c.(316-318)gCt>gAt		transducin (beta)-like 2							166	129	142					7																	72988397		2203	4300	6503	SO:0001583	missense	26608							g.chr7:72988397G>T	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"WD repeat domain containing"	11586	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 13"	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.317C>A	7.37:g.72988397G>T	ENSP00000307260:p.Ala106Asp		Somatic				TBL2_ENST00000452475.1_Missense_Mutation_p.A106D|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.A70D	p.A106D	NM_012453.2	NP_036585.1	WXS	Illumina GAIIx	Phase_I	Q9Y4P3	TBL2_HUMAN			3	558	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	106					Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	c.317C>A	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146183	0.94603	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538;ENST00000452475	T;T;T	0.70399	-0.48;-0.48;-0.48	5.3	5.3	0.74995	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	0.89536	0.6743	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92890	0.6330	10	0.87932	D	0	-24.3907	16.4333	0.83861	0.0:0.0:1.0:0.0	.	70;106	E9PF19;Q9Y4P3	.;TBL2_HUMAN	D	106;106;70;106	ENSP00000307260:A106D;ENSP00000413979:A70D;ENSP00000407371:A106D	ENSP00000307260:A106D	A	-	2	0	TBL2	72626333	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.581000	0.74045	2.491000	0.84063	0.561000	0.74099	GCT		0.577	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		13	50	1	0	2.27111e-07	1	2.30403e-07	13	50					T	72988397	G	T	72988397	3	4	42	1	0	0	0	0	1	0	0	0	15657	971	34	5	1046	5	TBL2	7	72988397	Missense_Mutation	SNP	G	TCGA-NA-A4QY-01A-11D-A28R-08	15799768	72988397	86150266	24	3981										
MET	4233	broad.mit.edu	37	chr7	116340188	116340188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	ggggtgttcgcacaaagcaaGccagattctgccgaaccaat	11	11	1	1			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:116340188G>T	ENST00000318493.6	+	2	1237	c.1050G>T	c.(1048-1050)aaG>aaT	p.K350N	MET_ENST00000397752.3_Missense_Mutation_p.K350N|MET_ENST00000436117.2_Missense_Mutation_p.K350N			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)			CACAAAGCAAGCCAGATTCTG	0.473			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.(1048-1050)aaG>aaT		met proto-oncogene							70	67	68					7																	116340188		1959	4151	6110	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116340188G>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1050G>T	7.37:g.116340188G>T	ENSP00000317272:p.Lys350Asn		Somatic				MET_ENST00000318493.6_Missense_Mutation_p.K350N|MET_ENST00000436117.2_Missense_Mutation_p.K350N	p.K350N	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	1250	+	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)	350			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.1050G>T	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888594	0.33348	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.11277	2.79;2.79;2.79	6.04	2.83	0.33086	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.047349	0.85682	D	0.000000	T	0.24736	0.0600	M	0.70275	2.135	0.80722	D	1	D;B;B;B;B;B;B;B;B;B;B;B;B	0.63880	0.993;0.154;0.05;0.062;0.154;0.154;0.154;0.154;0.178;0.095;0.25;0.02;0.02	D;B;B;B;B;B;B;B;B;B;B;B;B	0.65323	0.934;0.199;0.125;0.25;0.29;0.199;0.29;0.133;0.229;0.082;0.133;0.032;0.032	T	0.00775	-1.1571	10	0.46703	T	0.11	.	7.5407	0.27737	0.4122:0.0:0.5878:0.0	.	350;350;350;350;350;350;350;350;350;350;350;350;350	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	N	350	ENSP00000380860:K350N;ENSP00000317272:K350N;ENSP00000410980:K350N	ENSP00000317272:K350N	K	+	3	2	MET	116127424	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.939000	0.40213	0.877000	0.35895	0.563000	0.77884	AAG		0.473	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			25	29	1	0	2.27525e-19	1	2.41315e-19	25	29					T	116340188	G	T	116340188	3	4	42	1	0	0	0	0	1	0	0	0	9494	962	34	5	1052	5	MET	7	116340188	Missense_Mutation	SNP	G	TCGA-NA-A4QY-01A-11D-A28R-08	43351791	116340188	42798475	25	3982										
DOCK5	80005	broad.mit.edu	37	chr8	25167977	25167977	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	cctcacccaggttcagaagaAtttttcacacttggttgata	7	10	3	3	rs139621203	byFrequency	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr8:25167977A>T	ENST00000276440.7	+	13	1291	c.1247A>T	c.(1246-1248)aAt>aTt	p.N416I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	416					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GTTCAGAAGAATTTTTCACAC	0.423																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1246-1248)aAt>aTt		dedicator of cytokinesis 5							83	82	82					8																	25167977		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25167977A>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1247A>T	8.37:g.25167977A>T	ENSP00000276440:p.Asn416Ile		Somatic					p.N416I	NM_024940.6	NP_079216.4	WXS	Illumina GAIIx	Phase_I	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	13	1291	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	416					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.1247A>T	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.37|18.37	3.609571|3.609571	0.66558|0.66558	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.17213	.|2.29	6.08|6.08	4.91|4.91	0.64330|0.64330	.|.	.|0.109571	.|0.64402	.|D	.|0.000011	T|T	0.10594|0.10594	0.0259|0.0259	N|N	0.08118|0.08118	0|0	0.47862|0.47862	D|D	0.999531|0.999531	.|B;B	.|0.20988	.|0.001;0.05	.|B;B	.|0.20184	.|0.011;0.028	T|T	0.08249|0.08249	-1.0731|-1.0731	5|10	.|0.87932	.|D	.|0	.|.	13.2822|13.2822	0.60222|0.60222	0.8675:0.1325:0.0:0.0|0.8675:0.1325:0.0:0.0	.|.	.|191;416	.|Q68DL4;Q9H7D0	.|.;DOCK5_HUMAN	D|I	187|416	.|ENSP00000276440:N416I	.|ENSP00000276440:N416I	E|N	+|+	3|2	2|0	DOCK5|DOCK5	25223894|25223894	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.468000|7.468000	0.80943|0.80943	1.107000|1.107000	0.41642|0.41642	0.533000|0.533000	0.62120|0.62120	GAA|AAT		0.423	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		15	17	0	0	0	1	0	15	17					T	25167977	A	T	25167977	3	4	42	1	0	0	0	0	1	0	0	0	4692	101	4	4	1297	4	DOCK5	8	25167977	Missense_Mutation	SNP	A	TCGA-NA-A4QY-01A-11D-A28R-08		25167977	121196045	26	3983										
UNC5D	137970	broad.mit.edu	37	chr8	35583958	35583958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	aaataaaatgccctacatccAaaatctgtcatcactcccca	2	14	3	0			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr8:35583958A>G	ENST00000404895.2	+	10	1920	c.1592A>G	c.(1591-1593)cAa>cGa	p.Q531R	UNC5D_ENST00000416672.1_Missense_Mutation_p.Q536R|UNC5D_ENST00000420357.1_Missense_Mutation_p.Q464R|UNC5D_ENST00000449677.1_Missense_Mutation_p.Q107R|UNC5D_ENST00000453357.2_Missense_Mutation_p.Q526R|UNC5D_ENST00000287272.2_Missense_Mutation_p.Q462R	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	531					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)		CCCTACATCCAAAATCTGTCA	0.468																																						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.(1384-1386)cAa>cGa		unc-5 homolog D (C. elegans)							125	126	126					8																	35583958		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35583958A>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.1592A>G	8.37:g.35583958A>G	ENSP00000385143:p.Gln531Arg		Somatic				UNC5D_ENST00000449677.1_Missense_Mutation_p.Q107R|UNC5D_ENST00000453357.2_Missense_Mutation_p.Q526R|UNC5D_ENST00000420357.1_Missense_Mutation_p.Q464R|UNC5D_ENST00000416672.1_Missense_Mutation_p.Q536R|UNC5D_ENST00000404895.2_Missense_Mutation_p.Q531R	p.Q462R			WXS	Illumina GAIIx	Phase_I	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1405	+			531					Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1385A>G	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	A	13.30	2.196563	0.38806	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.55052	0.58;1.0;1.02;0.58;0.54;2.44	5.8	4.62	0.57501	.	0.335739	0.35124	N	0.003438	T	0.42810	0.1219	L	0.60455	1.87	0.35649	D	0.811587	B;P;B;B	0.39250	0.003;0.665;0.002;0.003	B;B;B;B	0.23275	0.001;0.045;0.003;0.001	T	0.55522	-0.8128	10	0.42905	T	0.14	-8.771	13.0096	0.58724	0.8652:0.1348:0.0:0.0	.	107;536;526;531	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	R	531;464;462;536;526;107	ENSP00000385143:Q531R;ENSP00000392739:Q464R;ENSP00000287272:Q462R;ENSP00000412652:Q536R;ENSP00000394303:Q526R;ENSP00000397211:Q107R	ENSP00000287272:Q462R	Q	+	2	0	UNC5D	35703500	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	4.031000	0.57267	0.999000	0.39023	0.460000	0.39030	CAA		0.468	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			26	40	0	0	0	1	0	26	40					G	35583958	A	G	35583958	3	3	42	1	0	0	0	0	1	0	0	0	17010	130	5	4	1630	4	UNC5D	8	35583958	Missense_Mutation	SNP	A	TCGA-NA-A4QY-01A-11D-A28R-08	10415981	35583958	110780064	27	3984										
ZFAT	57623	broad.mit.edu	37	chr8	135524778	135524778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	cgctgcctgtgtcccttgaaCgtcttcttcggcctctgtga	10	14	3	2			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr8:135524778C>T	ENST00000377838.3	-	14	3475	c.3301G>A	c.(3301-3303)Gtt>Att	p.V1101I	ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000520727.1_Missense_Mutation_p.V1089I|ZFAT_ENST00000429442.2_Missense_Mutation_p.V1089I|ZFAT_ENST00000517307.1_5'Flank|ZFAT_ENST00000520214.1_Missense_Mutation_p.V1089I|ZFAT_ENST00000523399.1_Missense_Mutation_p.V1039I	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1101					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)			GTCCCTTGAACGTCTTCTTCG	0.532																																						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.(3265-3267)Gtt>Att		zinc finger and AT hook domain containing							163	172	169					8																	135524778		2001	4163	6164	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135524778C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3301G>A	8.37:g.135524778C>T	ENSP00000367069:p.Val1101Ile		Somatic				ZFAT_ENST00000520214.1_Missense_Mutation_p.V1089I|ZFAT_ENST00000429442.2_Missense_Mutation_p.V1089I|ZFAT_ENST00000523399.1_Missense_Mutation_p.V1039I|ZFAT_ENST00000377838.3_Missense_Mutation_p.V1101I|ZFAT_ENST00000520356.1_Intron	p.V1089I	NM_001029939.3	NP_001025110.2	WXS	Illumina GAIIx	Phase_I	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		15	3564	-	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)		1101					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.3265G>A	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	5.180	0.218706	0.09810	.	.	ENSG00000066827	ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T	0.09630	2.96;2.99;2.97;2.96;2.98	4.8	2.99	0.34606	.	0.372134	0.28151	N	0.016402	T	0.05135	0.0137	N	0.19112	0.55	0.09310	N	1	P;P;B	0.45569	0.734;0.861;0.205	B;B;B	0.29353	0.101;0.06;0.038	T	0.33599	-0.9862	10	0.56958	D	0.05	-6.1601	9.2031	0.37272	0.1449:0.7786:0.0:0.0765	.	220;1039;1101	B7Z741;E9PER3;Q9P243	.;.;ZFAT_HUMAN	I	1089;1089;1101;1089;988;1039	ENSP00000427831:V1089I;ENSP00000394501:V1089I;ENSP00000367069:V1101I;ENSP00000428483:V1089I;ENSP00000429091:V1039I	ENSP00000326997:V988I	V	-	1	0	ZFAT	135593960	0.005000	0.15991	0.038000	0.18304	0.013000	0.08279	0.847000	0.27696	0.728000	0.32382	-0.244000	0.11960	GTT		0.532	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		55	321	0	0	0	1	0	55	321					T	135524778	C	T	135524778	3	4	42	1	0	0	0	0	1	0	0	0	17647	536	19	1	442	1	ZFAT	8	135524778	Missense_Mutation	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08	99940820	135524778	10839244	28	3985										
ADAMTS13	11093	broad.mit.edu	37	chr9	136305578	136305578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	agtacagagtggccctcaccGaggaccggctgccccgcctg	13	16	1	1	rs34569244		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr9:136305578G>A	ENST00000371929.3	+	16	2344	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	ADAMTS13_ENST00000356589.2_Missense_Mutation_p.E603K|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.E634K|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.E306K|ADAMTS13_ENST00000485925.1_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	634	Spacer.				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)		GGCCCTCACCGAGGACCGGCT	0.647																																						ENST00000371929.3																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(1900-1902)Gag>Aag		ADAM metallopeptidase with thrombospondin type 1 motif, 13							64	50	55					9																	136305578		2202	4300	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.chr9:136305578G>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.1900G>A	9.37:g.136305578G>A	ENSP00000360997:p.Glu634Lys		Somatic				ADAMTS13_ENST00000536611.1_Missense_Mutation_p.E306K|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.E634K|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.E603K|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR	p.E634K	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)	16	2344	+			634			Spacer.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.1900G>A	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	G	4.752	0.139862	0.09083	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.68479	-0.31;-0.33;-0.31;0.11	5.21	2.34	0.29019	.	.	.	.	.	T	0.50103	0.1596	L	0.28400	0.85	0.19775	N	0.99996	B;B;B;B	0.12630	0.003;0.006;0.006;0.003	B;B;B;B	0.08055	0.001;0.003;0.003;0.001	T	0.34378	-0.9831	9	0.32370	T	0.25	.	6.8327	0.23919	0.2278:0.1263:0.6459:0.0	rs34569244	634;603;634;306	Q76LX8;Q76LX8-3;Q76LX8-2;Q9UGQ1	ATS13_HUMAN;.;.;.	K	634;634;603;306	ENSP00000360997:E634K;ENSP00000347927:E634K;ENSP00000348997:E603K;ENSP00000444504:E306K	ENSP00000347927:E634K	E	+	1	0	ADAMTS13	135295399	0.769000	0.28531	0.509000	0.27700	0.051000	0.14879	1.010000	0.29898	0.603000	0.29913	-0.327000	0.08410	GAG		0.647	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		19	24	0	0	0	1	0	19	24					A	136305578	G	A	136305578	3	1	42	1	0	0	0	0	1	0	0	0	258	1059	37	1	1962	1	ADAMTS13	9	136305578	Missense_Mutation	SNP	G	TCGA-NA-A4QY-01A-11D-A28R-08		136305578	4907853	29	3986										
KIAA1217	56243	broad.mit.edu	37	chr10	24762746	24762746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	tgcctctcctcacagagtcaGtgacctgaggatgatagaca	10	11	3	5			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr10:24762746G>A	ENST00000376454.3	+	6	1466	c.1436G>A	c.(1435-1437)aGt>aAt	p.S479N	KIAA1217_ENST00000376462.1_Missense_Mutation_p.S399N|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S479N|KIAA1217_ENST00000430453.2_Missense_Mutation_p.S400N|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S197N|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S197N|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S197N|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S479N|KIAA1217_ENST00000376451.2_Missense_Mutation_p.S197N	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	479					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CACAGAGTCAGTGACCTGAGG	0.542																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(589-591)aGt>aAt		KIAA1217							99	84	89					10																	24762746		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24762746G>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.1436G>A	10.37:g.24762746G>A	ENSP00000365637:p.Ser479Asn		Somatic				KIAA1217_ENST00000430453.2_Missense_Mutation_p.S400N|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S197N|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S197N|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S197N|KIAA1217_ENST00000376454.3_Missense_Mutation_p.S479N|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S479N|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S399N|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S479N	p.S197N			WXS	Illumina GAIIx	Phase_I	Q5T5P2	SKT_HUMAN			2	850	+			479					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.590G>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	6.423	0.446134	0.12164	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.65	2.5	0.30297	.	0.625389	0.18496	N	0.139483	T	0.33990	0.0882	L	0.33485	1.01	0.09310	N	1	B;B;B;B;P;P;P;B	0.44195	0.332;0.007;0.332;0.015;0.682;0.546;0.828;0.001	B;B;B;B;B;B;B;B	0.39531	0.104;0.005;0.104;0.012;0.281;0.222;0.302;0.001	T	0.15521	-1.0434	10	0.44086	T	0.13	.	9.9823	0.41821	0.0863:0.3302:0.5834:0.0	.	479;479;197;197;197;197;479;479	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	N	399;479;479;197;479;479;329;400;197;197;197;197;197	ENSP00000365645:S399N;ENSP00000365639:S479N;ENSP00000392625:S479N;ENSP00000365637:S479N;ENSP00000365635:S479N;ENSP00000404798:S329N;ENSP00000389680:S400N;ENSP00000302343:S197N;ENSP00000379722:S197N;ENSP00000365634:S197N;ENSP00000379723:S197N	ENSP00000302343:S197N	S	+	2	0	KIAA1217	24802752	0.003000	0.15002	0.007000	0.13788	0.107000	0.19398	1.788000	0.38714	1.384000	0.46424	0.655000	0.94253	AGT		0.542	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		25	95	0	0	0	1	0	25	95					A	24762746	G	A	24762746	3	1	42	1	0	0	0	0	1	0	0	0	8225	1029	36	3	1458	3	KIAA1217	10	24762746	Missense_Mutation	SNP	G	TCGA-NA-A4QY-01A-11D-A28R-08		24762746	110772001	30	3987										
DNMBP	23268	broad.mit.edu	37	chr10	101715317	101715317	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	gctgggcgagagggtcgcacCaccaagggtggtgcaggttt	18	9	0	1			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr10:101715317C>G	ENST00000324109.4	-	4	2005	c.1914G>C	c.(1912-1914)gtG>gtC	p.V638V	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Silent_p.V638V	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	638	Pro-rich.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGGGTCGCACCACCAAGGGTG	0.597																																						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.(1912-1914)gtG>gtC		dynamin binding protein							41	41	41					10																	101715317		2202	4300	6502	SO:0001819	synonymous_variant	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101715317C>G	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.1914G>C	10.37:g.101715317C>G			Somatic				DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Silent_p.V638V	p.V638V			WXS	Illumina GAIIx	Phase_I	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	2005	-		Colorectal(252;0.234)	638			Pro-rich.		Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	c.1914G>C	CCDS7485.1																																																																																				0.597	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		8	59	0	0	0	1	0	8	59					G	101715317	C	G	101715317	2	3	42	1	0	0	0	0	0	0	0	1	4676	581	21	5		5	DNMBP	10	101715317	Silent	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08	76952571	101715317	33819430	31	3988										
DOCK1	1793	broad.mit.edu	37	chr10	128785806	128785806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	caacatgaaacagtcatcccGggtgacctccccctcatcca	6	17	2	2	rs201302163	byFrequency	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr10:128785806G>A	ENST00000280333.6	+	5	358	c.249G>A	c.(247-249)ccG>ccA	p.P83P		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	83					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)		CAGTCATCCCGGGTGACCTCC	0.507													G|||	9	0.00179712	0	0	5008	,	,		18586	0		0.001	False		,,,				2504	0.0082					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.(247-249)ccG>ccA		dedicator of cytokinesis 1		G		2,3986		0,2,1992	28	29	29		204	-10.1	0	10		29	1,8337		0,1,4168	no	coding-synonymous	DOCK1	NM_001380.3		0,3,6160	AA,AG,GG		0.012,0.0502,0.0243		68/1851	128785806	3,12323	1994	4169	6163	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128785806G>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.249G>A	10.37:g.128785806G>A			Somatic					p.P83P	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)	5	358	+		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)	83					A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.249G>A																																																																																					0.507	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		7	10	0	0	0	1	0	7	10					A	128785806	G	A	128785806	2	1	42	1	0	0	0	0	0	0	0	1	4686	1103	39	1		1	DOCK1	10	128785806	Silent	SNP	G	TCGA-NA-A4QY-01A-11D-A28R-08	27070489	128785806	6748941	32	3989										
SLC17A6	57084	broad.mit.edu	37	chr11	22396405	22396405	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	aagcagattctttcaactacGacagtgagaaagatcatgaa	8	7	3	4	rs117003321	byFrequency	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:22396405G>A	ENST00000263160.3	+	9	1583	c.1146G>A	c.(1144-1146)acG>acA	p.T382T		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	382					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						TTTCAACTACGACAGTGAGAA	0.368													G|||	5	0.000998403	0	0	5008	,	,		18672	0		0.002	False		,,,				2504	0.0031					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.(1144-1146)acG>acA		solute carrier family 17 (vesicular glutamate transporter), member 6		G		0,4406		0,0,2203	208	206	207		1146	-2.4	1	11	dbSNP_133	207	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC17A6	NM_020346.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		382/583	22396405	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22396405G>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.1146G>A	11.37:g.22396405G>A			Somatic					p.T382T	NM_020346.2	NP_065079.1	WXS	Illumina GAIIx	Phase_I	Q9P2U8	VGLU2_HUMAN			9	1583	+			382					A6NKS2	Silent	SNP	ENST00000263160.3	37	c.1146G>A	CCDS7856.1																																																																																				0.368	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		40	108	0	0	0	1	0	40	108					A	22396405	G	A	22396405	2	1	42	1	0	0	0	0	0	0	0	1	14436	1045	37	1		1	SLC17A6	11	22396405	Silent	SNP	G	TCGA-NA-A4QY-01A-11D-A28R-08		22396405	112610111	33	3990										
SUV420H1	51111	broad.mit.edu	37	chr11	67926336	67926336	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	tggtccctctggctccttatCttttttaatgggcaaatttt	7	9	2	0			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:67926336C>G	ENST00000304363.4	-	11	1830	c.1477G>C	c.(1477-1479)Gat>Cat	p.D493H		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	493					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GGCTCCTTATCTTTTTTAATG	0.478																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(1477-1479)Gat>Cat		suppressor of variegation 4-20 homolog 1 (Drosophila)							59	65	63					11																	67926336		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67926336C>G	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1477G>C	11.37:g.67926336C>G	ENSP00000305899:p.Asp493His		Somatic					p.D493H	NM_017635.3	NP_060105.3	WXS	Illumina GAIIx	Phase_I	Q4FZB7	SV421_HUMAN			11	1830	-			493					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.1477G>C	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564715	0.45694	.	.	ENSG00000110066	ENST00000304363	T	0.52295	0.67	5.2	4.28	0.50868	.	0.342595	0.33127	N	0.005247	T	0.41396	0.1157	N	0.24115	0.695	0.80722	D	1	P	0.49696	0.927	P	0.45946	0.498	T	0.47129	-0.9141	10	0.72032	D	0.01	-10.7918	15.7743	0.78198	0.0:0.8634:0.1366:0.0	.	493	Q4FZB7	SV421_HUMAN	H	493	ENSP00000305899:D493H	ENSP00000305899:D493H	D	-	1	0	SUV420H1	67682912	1.000000	0.71417	0.428000	0.26697	0.008000	0.06430	7.317000	0.79018	1.393000	0.46605	0.591000	0.81541	GAT		0.478	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		45	44	0	0	0	1	0	45	44					G	67926336	C	G	67926336	3	3	42	1	0	0	0	0	1	0	0	0	15429	913	32	2	1184	2	SUV420H1	11	67926336	Missense_Mutation	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08	45529931	67926336	67080180	34	3991										
PGR	5241	broad.mit.edu	37	chr11	100999426	100999427	+	Frame_Shift_Ins	INS	-	-	C													0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	ggagggctgggttggctctgINScccgggacctgagggcgcca							TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:100999426_100999427insC	ENST00000325455.5	-	1	1828_1829	c.375_376insG	c.(373-378)gggcagfs	p.Q126fs	PGR_ENST00000263463.5_Frame_Shift_Ins_p.Q126fs|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	126	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)	GGTTGGCTCTGCCCGGGACCTG	0.653																																					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.(373-378)ggagagfs		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)																																			SO:0001589	frameshift_variant	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.chr11:100999426_100999427insC	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.376dupG	11.37:g.100999429_100999429dupC	ENSP00000325120:p.Gln126fs		Somatic				PGR_ENST00000263463.5_Frame_Shift_Ins_p.E126fs|PGR_ENST00000534013.1_Intron	p.E126fs	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	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	1828_1829	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	126			Modulating, Pro-Rich.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Frame_Shift_Ins	INS	ENST00000325455.5	37	c.375_376insG	CCDS8310.1																																																																																				0.653	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			7	8						7	8	---	---	---	---	C	100999427	-	C	100999426	7	5	42	1	0	1	1	0	0	0	0	0	11814	1328	46	0	2457	0	PGR	11	100999426	Frame_Shift_Ins	INS	-	TCGA-NA-A4QY-01A-11D-A28R-08	33073090	100999426	34007090	35	3992										
CARKD	55739	broad.mit.edu	37	chr13	111287884	111287884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	tcagccaagccctgggcaacGtgacggtggtccagaaagga	14	11	1	2			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr13:111287884G>A	ENST00000309957.2	+	8	735	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	CARKD_ENST00000424185.2_Missense_Mutation_p.V131M|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000458711.2_Missense_Mutation_p.V110M	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing											NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						CCTGGGCAACGTGACGGTGGT	0.592																																						ENST00000309957.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						c.(721-723)Gtg>Atg		carbohydrate kinase domain containing							163	147	152					13																	111287884		2203	4300	6503	SO:0001583	missense	55739							g.chr13:111287884G>A	AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.721G>A	13.37:g.111287884G>A	ENSP00000311984:p.Val241Met		Somatic				CARKD_ENST00000458711.2_Missense_Mutation_p.V110M|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000424185.2_Missense_Mutation_p.V131M	p.V241M	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	WXS	Illumina GAIIx	Phase_I	Q8IW45	CARKD_HUMAN			8	735	+			241			YjeF C-terminal.			Missense_Mutation	SNP	ENST00000309957.2	37	c.721G>A	CCDS9513.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714329	0.30413	.	.	ENSG00000213995	ENST00000458711;ENST00000424185;ENST00000439607;ENST00000309957	T;T;T	0.24151	1.87;1.87;1.87	4.86	2.08	0.27032	Uncharacterised domain, carbohydrate kinase-related (3);	0.627359	0.15786	N	0.244665	T	0.46092	0.1375	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.999;0.998;1.0;0.992	P;P;D;D;P	0.68039	0.896;0.898;0.917;0.955;0.781	T	0.40079	-0.9582	10	0.87932	D	0	-15.2042	1.1683	0.01820	0.21:0.2179:0.3678:0.2042	.	110;131;223;241;241	B4DQR1;Q8IW45-4;B4DKX7;Q8IW45-2;Q8IW45	.;.;.;.;CARKD_HUMAN	M	110;131;223;241	ENSP00000412789:V110M;ENSP00000413191:V131M;ENSP00000311984:V241M	ENSP00000311984:V241M	V	+	1	0	CARKD	110085885	0.071000	0.21146	0.008000	0.14137	0.192000	0.23643	0.221000	0.17680	0.075000	0.16796	0.462000	0.41574	GTG		0.592	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045764.1	NM_018210		28	212	0	0	0	1	0	28	212					A	111287884	G	A	111287884	3	1	42	1	0	0	0	0	1	0	0	0	2656	1145	40	1	751	1	CARKD	13	111287884	Missense_Mutation	SNP	G	TCGA-NA-A4QY-01A-11D-A28R-08		111287884	3881994	36	3993										
SEC11A	23478	broad.mit.edu	37	chr15	85259282	85259282	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	cttgttcatccgccgcacatCgtccaaaaagtctagagaca	7	13	2	1			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:85259282C>T	ENST00000268220.7	-	1	665	c.25G>A	c.(25-27)Gat>Aat	p.D9N	SEC11A_ENST00000558134.1_Missense_Mutation_p.D9N|SEC11A_ENST00000455959.3_5'UTR|SEC11A_ENST00000560266.1_Missense_Mutation_p.D9N	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			CGCCGCACATCGTCCAAAAAG	0.642																																						ENST00000268220.7																			0				ovary(1)	1						c.(25-27)Gat>Aat		SEC11 homolog A (S. cerevisiae)							44	53	50					15																	85259282		1996	4156	6152	SO:0001583	missense	23478				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity	g.chr15:85259282C>T	AF061737	CCDS45340.1, CCDS61742.1, CCDS61743.1, CCDS61744.1, CCDS73776.1	15q25.2	2006-11-07	2006-11-07	2006-11-07		ENSG00000140612			17718	protein-coding gene	gene with protein product			"SEC11-like 1 (S. cerevisiae)"	SEC11L1			Standard	NM_001271919		Approved	SPC18, sid2895, SPCS4A	uc031qtg.1	P67812		ENST00000268220.7:c.25G>A	15.37:g.85259282C>T	ENSP00000268220:p.Asp9Asn		Somatic				SEC11A_ENST00000560266.1_Missense_Mutation_p.D9N|SEC11A_ENST00000558134.1_Missense_Mutation_p.D9N|SEC11A_ENST00000455959.3_5'UTR	p.D9N	NM_014300.2	NP_055115.1	WXS	Illumina GAIIx	Phase_I	P67812	SC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.199)		1	665	-			9					B2RAD7|B4DUL4|H0YK72|H0YK83|O75957|P21378|Q53FQ8	Missense_Mutation	SNP	ENST00000268220.7	37	c.25G>A	CCDS45340.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216858	0.95104	.	.	ENSG00000140612	ENST00000268220	.	.	.	5.1	5.1	0.69264	.	0.196194	0.43260	U	0.000592	T	0.54565	0.1866	L	0.56769	1.78	0.80722	D	1	P	0.35542	0.508	B	0.34931	0.192	T	0.60880	-0.7175	9	0.72032	D	0.01	.	13.8718	0.63624	0.0:1.0:0.0:0.0	.	9	P67812	SC11A_HUMAN	N	9	.	ENSP00000268220:D9N	D	-	1	0	SEC11A	83060286	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.897000	0.56273	2.648000	0.89879	0.561000	0.74099	GAT		0.642	SEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418777.1	NM_014300		8	15	0	0	0	1	0	8	15					T	85259282	C	T	85259282	3	4	42	1	0	0	0	0	1	0	0	0	13993	884	31	1	538	1	SEC11A	15	85259282	Missense_Mutation	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08		85259282	17272110	37	3994										
KLHL25	64410	broad.mit.edu	37	chr15	86312852	86312852	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	atagcggctagaggcggccaGcacggcacggtgacagggga	18	10	0	2			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:86312852G>C	ENST00000337975.5	-	2	464	c.190C>G	c.(190-192)Ctg>Gtg	p.L64V	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000536947.1_Missense_Mutation_p.L64V|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	64	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GAGGCGGCCAGCACGGCACGG	0.627																																						ENST00000337975.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(190-192)Ctg>Gtg		kelch-like family member 25							40	42	42					15																	86312852		2202	4299	6501	SO:0001583	missense	64410					cytoplasm		g.chr15:86312852G>C		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"Kelch-like", "BTB/POZ domain containing"	25732	protein-coding gene	gene with protein product	"ectodermal-neural cortex 2"		"kelch-like 25 (Drosophila)"				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.190C>G	15.37:g.86312852G>C	ENSP00000336800:p.Leu64Val		Somatic				KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.L64V	p.L64V	NM_022480.3	NP_071925.2	WXS	Illumina GAIIx	Phase_I	Q9H0H3	ENC2_HUMAN			2	464	-			64			BTB.		B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	c.190C>G	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921388	0.52653	.	.	ENSG00000183655	ENST00000337975;ENST00000536947	D;D	0.89485	-2.52;-2.52	4.85	1.91	0.25777	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000004	D	0.94778	0.8314	M	0.93763	3.455	0.44899	D	0.997911	D	0.71674	0.998	D	0.79108	0.992	D	0.94332	0.7563	10	0.87932	D	0	.	9.5338	0.39209	0.2297:0.0:0.7703:0.0	.	64	Q9H0H3	ENC2_HUMAN	V	64	ENSP00000336800:L64V;ENSP00000444739:L64V	ENSP00000336800:L64V	L	-	1	2	KLHL25	84113856	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.616000	0.61197	1.050000	0.40346	0.462000	0.41574	CTG		0.627	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		14	33	0	0	0	1	0	14	33					C	86312852	G	C	86312852	3	2	42	1	0	0	0	0	1	0	0	0	8389	962	34	5	1583	5	KLHL25	15	86312852	Missense_Mutation	SNP	G	TCGA-NA-A4QY-01A-11D-A28R-08	1053570	86312852	16218540	38	3995										
CRTC3	64784	broad.mit.edu	37	chr15	91073323	91073323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	catggccgcctcgccgggctCgggcagcgccaacccgcgga	15	18	0	0			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:91073323C>T	ENST00000268184.6	+	1	24	c.20C>T	c.(19-21)tCg>tTg	p.S7L	CRTC3_ENST00000560098.1_Missense_Mutation_p.S7L|CRTC3_ENST00000420329.2_Missense_Mutation_p.S7L			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	7	Required for interaction with HTLV-1 TAX.				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)			TCGCCGGGCTCGGGCAGCGCC	0.721			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.(19-21)tCg>tTg		CREB regulated transcription coactivator 3							7	7	7					15																	91073323		2103	4158	6261	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91073323C>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.20C>T	15.37:g.91073323C>T	ENSP00000268184:p.Ser7Leu		Somatic				CRTC3_ENST00000560098.1_Missense_Mutation_p.S7L|CRTC3_ENST00000268184.6_Missense_Mutation_p.S7L	p.S7L	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)		1	167	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		7			Required for interaction with HTLV-1 TAX.		Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.20C>T	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891203	0.72524	.	.	ENSG00000140577	ENST00000268184;ENST00000420329	T;T	0.14391	2.51;2.51	2.52	2.52	0.30459	.	0.355369	0.21535	U	0.072998	T	0.14270	0.0345	L	0.34521	1.04	0.43782	D	0.996316	P;P	0.50710	0.898;0.938	B;P	0.47981	0.359;0.563	T	0.04103	-1.0977	10	0.72032	D	0.01	-3.2934	10.7216	0.46044	0.0:1.0:0.0:0.0	.	7;7	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	L	7	ENSP00000268184:S7L;ENSP00000416573:S7L	ENSP00000268184:S7L	S	+	2	0	CRTC3	88874327	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	5.152000	0.64882	1.406000	0.46857	0.297000	0.19635	TCG		0.721	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		5	3	0	0	0	1	0	5	3					T	91073323	C	T	91073323	3	4	42	1	0	0	0	0	1	0	0	0	3903	893	31	1	22	1	CRTC3	15	91073323	Missense_Mutation	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08	4760471	91073323	11458069	39	3996										
CRTC3	64784	broad.mit.edu	37	chr15	91172709	91172709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	tggccctgaagcacatcaagGtttcagcagacagctgtctt	10	11	3	2			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:91172709G>A	ENST00000268184.6	+	11	1215	c.1211G>A	c.(1210-1212)gGt>gAt	p.G404D	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000420329.2_Missense_Mutation_p.G404D			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	404					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)			GCACATCAAGGTTTCAGCAGA	0.572			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.(1210-1212)gGt>gAt		CREB regulated transcription coactivator 3							97	98	97					15																	91172709		2198	4298	6496	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91172709G>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.1211G>A	15.37:g.91172709G>A	ENSP00000268184:p.Gly404Asp		Somatic				CRTC3_ENST00000268184.6_Missense_Mutation_p.G404D|RP11-387D10.2_ENST00000559531.1_RNA	p.G404D	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	1358	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		404					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.1211G>A	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580698	0.28180	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.11712	2.75;2.77	5.18	4.2	0.49525	.	0.296123	0.36893	N	0.002351	T	0.13286	0.0322	L	0.50333	1.59	0.37167	D	0.902854	P;D	0.53312	0.931;0.959	B;P	0.48030	0.36;0.564	T	0.09487	-1.0672	10	0.12103	T	0.63	-11.0982	12.7258	0.57170	0.0:0.0:0.826:0.174	.	404;404	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	D	368;404;404	ENSP00000268184:G404D;ENSP00000416573:G404D	ENSP00000268184:G404D	G	+	2	0	CRTC3	88973713	0.994000	0.37717	0.878000	0.34440	0.022000	0.10575	1.740000	0.38228	2.687000	0.91594	0.655000	0.94253	GGT		0.572	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		46	95	0	0	0	1	0	46	95					A	91172709	G	A	91172709	3	1	42	1	0	0	0	0	1	0	0	0	3903	1261	44	3	1253	3	CRTC3	15	91172709	Missense_Mutation	SNP	G	TCGA-NA-A4QY-01A-11D-A28R-08	99386	91172709	11358683	40	3997										
HCFC1R1	54985	broad.mit.edu	37	chr16	3073870	3073870	+	Frame_Shift_Del	DEL	C	C	-													0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	ggcgtccaggccccaagtcaCccccaaggcggcccgcggga							TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr16:3073870delC	ENST00000248089.3	-	1	377	c.73delG	c.(73-75)gtgfs	p.V25fs	THOC6_ENST00000253952.9_5'Flank|HCFC1R1_ENST00000574151.1_Frame_Shift_Del_p.V25fs|HCFC1R1_ENST00000572355.1_Intron|THOC6_ENST00000574549.1_5'Flank|THOC6_ENST00000575576.1_5'Flank|HCFC1R1_ENST00000574980.1_Frame_Shift_Del_p.V25fs|HCFC1R1_ENST00000354679.3_Frame_Shift_Del_p.V25fs|HCFC1R1_ENST00000396916.1_Frame_Shift_Del_p.V25fs|THOC6_ENST00000326266.8_5'Flank	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	25						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						CCCCAAGTCACCCCCAAGGCG	0.701																																						ENST00000248089.3																			0				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						c.(73-75)tgfs		host cell factor C1 regulator 1 (XPO1 dependent)							7	9	8					16																	3073870		2099	4206	6305	SO:0001589	frameshift_variant	54985					cytoplasm|nucleus		g.chr16:3073870delC	AK000575	CCDS10490.1, CCDS32375.1, CCDS73815.1	16p13.3	2008-02-05	2005-12-01			ENSG00000103145			21198	protein-coding gene	gene with protein product			"host cell factor C1 regulator 1 (XPO1 dependant)"			12235138	Standard	NM_001002018		Approved	HPIP, FLJ20568	uc002csy.1	Q9NWW0		ENST00000248089.3:c.73delG	16.37:g.3073870delC	ENSP00000248089:p.Val25fs		Somatic				HCFC1R1_ENST00000396916.1_Frame_Shift_Del_p.V25fs|HCFC1R1_ENST00000574151.1_Frame_Shift_Del_p.V25fs|HCFC1R1_ENST00000574980.1_Frame_Shift_Del_p.V25fs|HCFC1R1_ENST00000572355.1_Intron|HCFC1R1_ENST00000354679.3_Frame_Shift_Del_p.V25fs	p.V25fs	NM_017885.2	NP_060355.1	WXS	Illumina GAIIx	Phase_I	Q9NWW0	HPIP_HUMAN			1	377	-			25					D3DUA7|Q68EN7	Frame_Shift_Del	DEL	ENST00000248089.3	37	c.73delG	CCDS10490.1																																																																																				0.701	HCFC1R1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436969.1	NM_017885		2	4						2	4	---	---	---	---	-	3073870	C	-	3073870	7	5	42	1	0	1	0	1	0	0	0	0	7001	507	18	0	359	0	HCFC1R1	16	3073870	Frame_Shift_Del	DEL	C	TCGA-NA-A4QY-01A-11D-A28R-08		3073870	87280883	41	3998										
TP53	7157	broad.mit.edu	37	chr17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	gcacctcaaagctgttccgtCccagtagattaccactactc	6	15	1	1	rs193920774		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:7577141C>A	ENST00000269305.4	-	8	986	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_ENST00000420246.2_Missense_Mutation_p.G266V|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000455263.2_Missense_Mutation_p.G266V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCTGTTCCGTCCCAGTAGATT	0.517		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(796-798)gGa>gTa	Other conserved DNA damage response genes	tumor protein p53							50	44	46					17																	7577141		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577141C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.797G>T	17.37:g.7577141C>A	ENSP00000269305:p.Gly266Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000455263.2_Missense_Mutation_p.G266V|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.G266V	p.G266V	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	929	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.797G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388215	0.82902	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	266;266;266;266;266;255;134	ENSP00000352610:G266V;ENSP00000269305:G266V;ENSP00000398846:G266V;ENSP00000391127:G266V;ENSP00000391478:G266V;ENSP00000425104:G134V	ENSP00000269305:G266V	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	4	1	0	0.0135373	1	0.0135373	13	4					A	7577141	C	A	7577141	3	1	42	1	0	0	0	0	1	0	0	0	16396	855	30	2	489	2	TP53	17	7577141	Missense_Mutation	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08		7577141	73618069	42	3999										
USP43	124739	broad.mit.edu	37	chr17	9631744	9631744	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	acctgcctctcactgtgatgCcttcagtggagcatgagaaa	10	11	2	2			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:9631744C>T	ENST00000285199.7	+	15	2905	c.2809C>T	c.(2809-2811)Cct>Tct	p.P937S	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.P932S	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	937					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CACTGTGATGCCTTCAGTGGA	0.537																																						ENST00000570827.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						c.(1876-1878)Cct>Tct		ubiquitin specific peptidase 43							27	29	28					17																	9631744		1964	4161	6125	SO:0001583	missense	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9631744C>T	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2809C>T	17.37:g.9631744C>T	ENSP00000285199:p.Pro937Ser		Somatic				USP43_ENST00000285199.6_Missense_Mutation_p.P937S|USP43_ENST00000570475.1_Missense_Mutation_p.P932S	p.P626S			WXS	Illumina GAIIx	Phase_I	Q70EL4	UBP43_HUMAN			15	2950	+			937					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	c.1876C>T	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921767	0.33908	.	.	ENSG00000154914	ENST00000285199	T	0.09817	2.94	5.4	2.09	0.27110	.	3.410550	0.00735	N	0.000966	T	0.07503	0.0189	N	0.16307	0.4	0.40618	D	0.981739	B;B;B;B	0.30281	0.028;0.275;0.01;0.275	B;B;B;B	0.28916	0.011;0.096;0.005;0.067	T	0.34527	-0.9825	10	0.25106	T	0.35	-23.0607	3.9966	0.09561	0.1968:0.6021:0.0:0.2011	.	932;626;937;449	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	S	937	ENSP00000285199:P937S	ENSP00000285199:P937S	P	+	1	0	USP43	9572469	0.000000	0.05858	0.997000	0.53966	0.693000	0.40251	0.311000	0.19380	0.808000	0.34231	0.655000	0.94253	CCT		0.537	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		6	8	0	0	0	1	0	6	8					T	9631744	C	T	9631744	3	4	42	1	0	0	0	0	1	0	0	0	17089	739	26	3	2867	3	USP43	17	9631744	Missense_Mutation	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08	2054603	9631744	71563466	43	4000										
SUPT6H	6830	broad.mit.edu	37	chr17	27009799	27009799	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	gcagtttggggagaacctgcGggatagctaccagcggcacg	16	10	0	1			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:27009799G>T	ENST00000314616.6	+	14	1935	c.1652G>T	c.(1651-1653)cGg>cTg	p.R551L	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R551L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	551	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)					GAGAACCTGCGGGATAGCTAC	0.557																																						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.(1651-1653)cGg>cTg		suppressor of Ty 6 homolog (S. cerevisiae)							74	72	72					17																	27009799		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.chr17:27009799G>T	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.1652G>T	17.37:g.27009799G>T	ENSP00000319104:p.Arg551Leu		Somatic				SUPT6H_ENST00000347486.4_Missense_Mutation_p.R551L	p.R551L	NM_003170.3	NP_003161.2	WXS	Illumina GAIIx	Phase_I	Q7KZ85	SPT6H_HUMAN			14	1935	+	Lung NSC(42;0.00431)		551					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.1652G>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517548	0.85495	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	T;T	0.39229	1.09;1.09	5.95	5.95	0.96441	Tex-like domain (1);	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	L	0.60455	1.87	0.80722	D	1	P	0.50528	0.936	B	0.42062	0.374	T	0.25117	-1.0141	10	0.20046	T	0.44	-19.2009	20.3854	0.98941	0.0:0.0:1.0:0.0	.	551	Q7KZ85	SPT6H_HUMAN	L	551	ENSP00000319104:R551L;ENSP00000338143:R551L	ENSP00000319104:R551L	R	+	2	0	SUPT6H	24033926	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.359000	0.97115	2.825000	0.97269	0.655000	0.94253	CGG		0.557	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		24	84	1	0	4.26978e-12	1	4.46096e-12	24	84					T	27009799	G	T	27009799	3	4	42	1	0	0	0	0	1	0	0	0	15415	1116	39	5	1702	5	SUPT6H	17	27009799	Missense_Mutation	SNP	G	TCGA-NA-A4QY-01A-11D-A28R-08	17378055	27009799	54185411	44	4001										
CRHR1	1394	broad.mit.edu	37	chr17	43907499	43907499	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	aacatcatccactggaacctCatctccgccttcatcctgcg	5	17	4	0			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:43907499C>A	ENST00000398285.3	+	7	561	c.561C>A	c.(559-561)ctC>ctA	p.L187L	CRHR1_ENST00000339069.5_Silent_p.L57L|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000314537.5_Silent_p.L158L|CRHR1_ENST00000352855.5_Silent_p.L118L|CRHR1_ENST00000577353.1_Silent_p.L158L	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	187					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ACTGGAACCTCATCTCCGCCT	0.622																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(472-474)ctC>ctA		corticotropin releasing hormone receptor 1							130	135	133					17																	43907499		2188	4278	6466	SO:0001819	synonymous_variant	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43907499C>A	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"GPCR / Class B : Corticotropin-releasing factor receptors"	2357	protein-coding gene	gene with protein product	"corticotropin-releasing factor receptor"	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.561C>A	17.37:g.43907499C>A			Somatic				CRHR1_ENST00000352855.5_Silent_p.L118L|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000398285.3_Silent_p.L187L|CRHR1_ENST00000577353.1_Silent_p.L158L|CRHR1_ENST00000339069.5_Silent_p.L57L	p.L158L	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	WXS	Illumina GAIIx	Phase_I	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	6	699	+	Colorectal(2;0.0416)		187					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Silent	SNP	ENST00000398285.3	37	c.474C>A	CCDS45712.1																																																																																				0.622	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			86	97	1	0	5.70515e-31	1	6.144e-31	86	97					A	43907499	C	A	43907499	2	1	42	1	0	0	0	0	0	0	0	1	3873	813	29	2		2	CRHR1	17	43907499	Silent	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08	16897700	43907499	37287711	45	4002										
SAMD4B	55095	broad.mit.edu	37	chr19	39869208	39869208	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	accagttacctccagctcatCgaaaagtgcctgactcatga	7	13	2	2			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr19:39869208C>T	ENST00000314471.6	+	11	2544	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	SAMD4B_ENST00000598913.1_Silent_p.I503I|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	503					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)			TCCAGCTCATCGAAAAGTGCC	0.572																																						ENST00000314471.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15						c.(1507-1509)atC>atT		sterile alpha motif domain containing 4B							147	108	121					19																	39869208		2203	4300	6503	SO:0001819	synonymous_variant	55095						protein binding	g.chr19:39869208C>T		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.1509C>T	19.37:g.39869208C>T			Somatic				SAMD4B_ENST00000598913.1_Silent_p.I503I|SAMD4B_ENST00000596368.1_Intron	p.I503I	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)		11	2544	+	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)		503					A5Z0M6|Q6P194	Silent	SNP	ENST00000314471.6	37	c.1509C>T	CCDS33020.1																																																																																				0.572	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		12	67	0	0	0	1	0	12	67					T	39869208	C	T	39869208	2	4	42	1	0	0	0	0	0	0	0	1	13837	874	31	1		1	SAMD4B	19	39869208	Silent	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08		39869208	19259775	46	4003										
PVRL2	5819	broad.mit.edu	37	chr19	45368618	45368632	+	In_Frame_Del	DEL	TTCCTGGACTGTACA	TTCCTGGACTGTACA	-													0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	gtgccacctgctgccacctgTtcctggactgtacatctccc							TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr19:45368618_45368632delTTCCTGGACTGTACA	ENST00000252483.5	+	2	179_193	c.179_193delTTCCTGGACTGTACA	c.(178-195)gttcctggactgtacatc>gtc	p.PGLYI61del	PVRL2_ENST00000252485.4_In_Frame_Del_p.PGLYI61del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	61	Ig-like V-type.				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)		CTGCCACCTGTTCCTGGACTGTACATCTCCCTGGT	0.656																																						ENST00000252483.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(178-195)gtc>g		poliovirus receptor-related 2 (herpesvirus entry mediator B)																																				SO:0001651	inframe_deletion	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.chr19:45368618_45368632delTTCCTGGACTGTACA	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.179_193delTTCCTGGACTGTACA	19.37:g.45368618_45368632delTTCCTGGACTGTACA	ENSP00000252483:p.Pro61_Ile65del		Somatic				PVRL2_ENST00000252485.4_In_Frame_Del_p.VPGLYI60del	p.VPGLYI60del	NM_001042724.1	NP_001036189.1	WXS	Illumina GAIIx	Phase_I	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	2	179_193	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	60			Ig-like V-type.		A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL	ENST00000252483.5	37	c.179_193delTTCCTGGACTGTACA	CCDS42576.1																																																																																				0.656	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		19	71						19	71	---	---	---	---	-	45368632	TTCCTGGACTGTACA	-	45368618	7	5	42	1	0	1	0	1	0	0	0	0	12855	1725	60	0	185	0	PVRL2	19	45368618	In_Frame_Del	DEL	TTCCTGGACTGTACA	TCGA-NA-A4QY-01A-11D-A28R-08	5499410	45368618	13760365	47	4004										
ZNF808	388558	broad.mit.edu	37	chr19	53057634	53057634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	cttacaagtgtaatgagtgtCgcaagaccttcagccgcagg	11	10	1	2			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr19:53057634C>T	ENST00000359798.4	+	5	1645	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	489					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(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TAATGAGTGTCGCAAGACCTT	0.433																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(1465-1467)Cgc>Tgc		zinc finger protein 808							82	87	85					19																	53057634		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53057634C>T	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1465C>T	19.37:g.53057634C>T	ENSP00000352846:p.Arg489Cys		Somatic					p.R489C	NM_001039886.3	NP_001034975.2	WXS	Illumina GAIIx	Phase_I	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	1645	+			489					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.1465C>T	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	6.223	0.409359	0.11812	.	.	ENSG00000198482	ENST00000359798	T	0.15139	2.45	1.35	-2.71	0.05986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11239	0.0274	L	0.37561	1.115	0.21445	N	0.999684	B	0.26975	0.165	B	0.23150	0.044	T	0.13710	-1.0499	9	0.87932	D	0	.	4.7929	0.13257	0.2385:0.1755:0.5859:0.0	.	489	Q8N4W9	ZN808_HUMAN	C	489	ENSP00000352846:R489C	ENSP00000352846:R489C	R	+	1	0	ZNF808	57749446	0.037000	0.19845	0.000000	0.03702	0.002000	0.02628	0.369000	0.20416	-2.196000	0.00751	-2.730000	0.00130	CGC		0.433	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		37	128	0	0	0	1	0	37	128					T	53057634	C	T	53057634	3	4	42	1	0	0	0	0	1	0	0	0	18188	884	31	1	1475	1	ZNF808	19	53057634	Missense_Mutation	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08	7689016	53057634	6071349	48	4005										
TRMT6	51605	broad.mit.edu	37	chr20	5919371	5919371	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	gatgacttcgatctggcaaaAcctaatcaagacagaaaaga	8	8	2	4			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr20:5919371A>C	ENST00000203001.2	-	11	1434	c.1304T>G	c.(1303-1305)gTt>gGt	p.V435G	TRMT6_ENST00000453074.2_Splice_Site_p.V265G|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	435					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ATCTGGCAAAACCTAATCAAG	0.418																																						ENST00000203001.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.e11-1		tRNA methyltransferase 6 homolog (S. cerevisiae)							65	64	64					20																	5919371		2203	4300	6503	SO:0001630	splice_region_variant	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5919371A>C	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.1303-1T>G	20.37:g.5919371A>C			Somatic				TRMT6_ENST00000453074.2_Splice_Site_p.V265_splice|TRMT6_ENST00000473131.1_5'UTR	p.V435_splice	NM_015939.3	NP_057023.2	WXS	Illumina GAIIx	Phase_I	Q9UJA5	TRM6_HUMAN			11	1434	-			435					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Splice_Site	SNP	ENST00000203001.2	37	c.1302_splice	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574600	0.86542	.	.	ENSG00000089195	ENST00000203001;ENST00000453074	T;T	0.48201	0.99;0.82	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.72070	0.3415	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.77186	-0.2680	10	0.87932	D	0	-19.6611	16.3818	0.83467	1.0:0.0:0.0:0.0	.	435	Q9UJA5	TRM6_HUMAN	G	435;265	ENSP00000203001:V435G;ENSP00000392070:V265G	ENSP00000203001:V435G	V	-	2	0	TRMT6	5867371	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.450000	0.90340	2.330000	0.79161	0.528000	0.53228	GTT		0.418	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2		Missense_Mutation	14	75	0	0	0	1	0	14	75					C	5919371	A	C	5919371	5	2	42	1	0	0	0	0	0	0	1	0	16583	57	2	4	193	4	TRMT6	20	5919371	Splice_Site	SNP	A	TCGA-NA-A4QY-01A-11D-A28R-08		5919371	57106149	49	4006										
PWP2	5822	broad.mit.edu	37	chr21	45544547	45544547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	cgtgtgcatctaccacgtccGtgagcagattctcatgaaga	10	11	2	4	rs144635092	byFrequency	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr21:45544547G>A	ENST00000291576.7	+	15	2031	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	635					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)		TACCACGTCCGTGAGCAGATT	0.602																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(1903-1905)cGt>cAt		PWP2 periodic tryptophan protein homolog (yeast)		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	123	94	104		1904	-1.4	0	21	dbSNP_134	104	0,8600		0,0,4300	no	missense	PWP2	NM_005049.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	635/920	45544547	1,13005	2203	4300	6503	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45544547G>A		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.1904G>A	21.37:g.45544547G>A	ENSP00000291576:p.Arg635His		Somatic					p.R635H	NM_005049.2	NP_005040.2	WXS	Illumina GAIIx	Phase_I	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	15	2031	+			635					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.1904G>A	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974426	0.34848	2.27E-4	0.0	ENSG00000241945	ENST00000291576	T	0.05025	3.51	4.63	-1.39	0.08997	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.441710	0.25241	N	0.032093	T	0.07369	0.0186	M	0.63843	1.955	0.28556	N	0.911355	D	0.54207	0.965	B	0.41036	0.346	T	0.15065	-1.0450	10	0.52906	T	0.07	-21.5413	10.3839	0.44127	0.4523:0.0:0.5477:0.0	.	635	Q15269	PWP2_HUMAN	H	635	ENSP00000291576:R635H	ENSP00000291576:R635H	R	+	2	0	PWP2	44368975	1.000000	0.71417	0.004000	0.12327	0.368000	0.29767	1.701000	0.37825	-0.461000	0.06993	-0.136000	0.14681	CGT		0.602	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		6	60	0	0	0	1	0	6	60					A	45544547	G	A	45544547	3	1	42	1	0	0	0	0	1	0	0	0	12859	1145	40	1	1962	1	PWP2	21	45544547	Missense_Mutation	SNP	G	TCGA-NA-A4QY-01A-11D-A28R-08		45544547	2585348	50	4007										
CLTCL1	8218	broad.mit.edu	37	chr22	19196494	19196494	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	ggtcgtcccctctgatatagGagttgatggcttccttcacc	10	12	2	2			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr22:19196494G>C	ENST00000263200.10	-	21	3452	c.3380C>G	c.(3379-3381)tCc>tGc	p.S1127C	CLTCL1_ENST00000442042.2_5'Flank|CLTCL1_ENST00000427926.1_Missense_Mutation_p.S1127C|CLTCL1_ENST00000353891.5_Missense_Mutation_p.S1127C	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1127	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)					TCTGATATAGGAGTTGATGGC	0.547			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.(3379-3381)tCc>tGc		clathrin, heavy chain-like 1							74	76	75					22																	19196494		2024	4191	6215	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19196494G>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.3380C>G	22.37:g.19196494G>C	ENSP00000445677:p.Ser1127Cys		Somatic				CLTCL1_ENST00000353891.5_Missense_Mutation_p.S1127C|CLTCL1_ENST00000427926.1_Missense_Mutation_p.S1127C	p.S1127C	NM_007098.3	NP_009029.3	WXS	Illumina GAIIx	Phase_I	P53675	CLH2_HUMAN			21	3452	-	Colorectal(54;0.0993)		1127			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.3380C>G	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678218	0.47886	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.26957	1.7;1.7;1.7	3.85	3.85	0.44370	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.58278	0.2111	M	0.92026	3.265	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.76575	0.988;0.943	T	0.68205	-0.5470	10	0.42905	T	0.14	-10.9925	15.9739	0.80044	0.0:0.0:1.0:0.0	.	1127;1127	P53675-2;P53675	.;CLH2_HUMAN	C	1127	ENSP00000439662:S1127C;ENSP00000445677:S1127C;ENSP00000441158:S1127C	ENSP00000445677:S1127C	S	-	2	0	CLTCL1	17576494	1.000000	0.71417	0.763000	0.31416	0.146000	0.21551	8.617000	0.90927	1.953000	0.56701	0.655000	0.94253	TCC		0.547	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		16	7	0	0	0	1	0	16	7					C	19196494	G	C	19196494	3	2	42	1	0	0	0	0	1	0	0	0	3569	1174	41	2	1590	2	CLTCL1	22	19196494	Missense_Mutation	SNP	G	TCGA-NA-A4QY-01A-11D-A28R-08		19196494	32108072	51	4008										
ARVCF	421	broad.mit.edu	37	chr22	19961226	19961226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	cagagcgatggcgacggcgcGcaccaccttgtcggtctcag	14	14	1	1	rs556096878		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr22:19961226G>A	ENST00000263207.3	-	13	2470	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	ARVCF_ENST00000406259.1_Missense_Mutation_p.R721C|ARVCF_ENST00000344269.3_Missense_Mutation_p.R664C|ARVCF_ENST00000401994.1_Missense_Mutation_p.R664C|ARVCF_ENST00000406522.1_Missense_Mutation_p.R658C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	727					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GCGACGGCGCGCACCACCTTG	0.667																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(2179-2181)Cgc>Tgc		armadillo repeat gene deleted in velocardiofacial syndrome							91	76	81					22																	19961226		2203	4300	6503	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19961226G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2179C>T	22.37:g.19961226G>A	ENSP00000263207:p.Arg727Cys		Somatic				ARVCF_ENST00000401994.1_Missense_Mutation_p.R664C|ARVCF_ENST00000344269.3_Missense_Mutation_p.R664C|ARVCF_ENST00000406522.1_Missense_Mutation_p.R658C|ARVCF_ENST00000406259.1_Missense_Mutation_p.R721C	p.R727C	NM_001670.2	NP_001661.1	WXS	Illumina GAIIx	Phase_I	O00192	ARVC_HUMAN			13	2470	-	Colorectal(54;0.0993)		727					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.2179C>T	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049225	0.55110	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	4.66	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);	0.057742	0.64402	D	0.000003	T	0.52041	0.1710	L	0.37697	1.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.978;0.999	T	0.49031	-0.8981	9	.	.	.	-17.7467	6.1279	0.20189	0.091:0.0:0.6276:0.2814	.	727;243	O00192;E7EV58	ARVC_HUMAN;.	C	727;664;664;658;721	ENSP00000263207:R727C;ENSP00000342042:R664C;ENSP00000384341:R664C;ENSP00000384732:R658C;ENSP00000385444:R721C	.	R	-	1	0	ARVCF	18341226	1.000000	0.71417	0.853000	0.33588	0.676000	0.39594	4.129000	0.57957	1.317000	0.45149	0.491000	0.48974	CGC		0.667	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		31	134	0	0	0	1	0	31	134					A	19961226	G	A	19961226	3	1	42	1	0	0	0	0	1	0	0	0	1003	1087	38	1	737	1	ARVCF	22	19961226	Missense_Mutation	SNP	G	TCGA-NA-A4QY-01A-11D-A28R-08	764732	19961226	31343340	52	4009										
EWSR1	2130	broad.mit.edu	37	chr22	29695296	29695296	+	Frame_Shift_Del	DEL	C	C	-													0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	gccccaaagcctgaaggcttCctcccgccaccctttccgcc							TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr22:29695296delC	ENST00000397938.2	+	15	1972	c.1653delC	c.(1651-1653)ttcfs	p.F551fs	EWSR1_ENST00000331029.7_Frame_Shift_Del_p.F513fs|EWSR1_ENST00000414183.2_Frame_Shift_Del_p.F556fs|EWSR1_ENST00000332035.6_Frame_Shift_Del_p.F495fs|EWSR1_ENST00000406548.1_Frame_Shift_Del_p.F550fs|EWSR1_ENST00000332050.6_Frame_Shift_Del_p.F478fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	551					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGAAGGCTTCCTCCCGCCAC	0.522			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"L, M"	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"		"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1651-1653)ttfs		EWS RNA-binding protein 1							110	108	108					22																	29695296		2203	4300	6503	SO:0001589	frameshift_variant	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29695296delC		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1653delC	22.37:g.29695296delC	ENSP00000381031:p.Phe551fs		Somatic				EWSR1_ENST00000332035.6_Frame_Shift_Del_p.F495fs|EWSR1_ENST00000414183.2_Frame_Shift_Del_p.F556fs|EWSR1_ENST00000332050.6_Frame_Shift_Del_p.F478fs|EWSR1_ENST00000406548.1_Frame_Shift_Del_p.F550fs|EWSR1_ENST00000331029.7_Frame_Shift_Del_p.F513fs	p.F551fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	WXS	Illumina GAIIx	Phase_I	Q01844	EWS_HUMAN			15	1972	+			551					B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Frame_Shift_Del	DEL	ENST00000397938.2	37	c.1653delC	CCDS13851.1																																																																																				0.522	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		85	132						85	132	---	---	---	---	-	29695296	C	-	29695296	7	5	42	1	0	1	0	1	0	0	0	0	5298	854	30	0	1828	0	EWSR1	22	29695296	Frame_Shift_Del	DEL	C	TCGA-NA-A4QY-01A-11D-A28R-08	9734070	29695296	21609270	53	4010										
GAGE2A	729447	broad.mit.edu	37	chrX	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	ctgcagctgctcaggagggaCaggatgagggagcatctgca	16	9	2	1	rs59641550		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	59								p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562																																						ENST00000362097.1																			8	Substitution - Missense(8)	p.Q59E(8)	endometrium(8)	endometrium(4)	4						c.(175-177)Cag>Gag		G antigen 2A																																				SO:0001583	missense	729447							g.chrX:49355893C>G	U19143	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064			4099	protein-coding gene	gene with protein product	"cancer/testis antigen family 4, member 2"	300720	"G antigen 2"	GAGE2		7544395	Standard	NM_001127212		Approved	CT4.2		Q6NT46	OTTHUMG00000024143	ENST00000362097.1:c.175C>G	X.37:g.49355893C>G	ENSP00000355421:p.Gln59Glu		Somatic					p.Q59E	NM_001127212.1	NP_001120684.1	WXS	Illumina GAIIx	Phase_I					3	258	+	Ovarian(276;0.236)								Missense_Mutation	SNP	ENST00000362097.1	37	c.175C>G	CCDS48114.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.861266	0.00064	.	.	ENSG00000189064	ENST00000362097	T	0.05447	3.44	0.869	-1.69	0.08186	.	.	.	.	.	T	0.00815	0.0027	N	0.00035	-2.545	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	8	0.02654	T	1	.	3.0546	0.06180	0.33:0.2512:0.4188:0.0	.	59	Q6NT46	GAG2A_HUMAN	E	59	ENSP00000355421:Q59E	ENSP00000355421:Q59E	Q	+	1	0	GAGE2A	49242837	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.119000	0.03276	-1.599000	0.01605	-0.870000	0.02990	CAG		0.562	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3			6	686	0	0	0	1	0	6	686					G	49355893	C	G	49355893	3	3	42	1	0	0	0	0	1	0	0	0	6198	479	17	5	1282	5	GAGE2A	23	49355893	Missense_Mutation	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08		49355893	105914667	54	4011										
BMP15	9210	broad.mit.edu	37	chrX	50659329	50659329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	accctttccaaatcagcttcCgccagctgggttgggatcac	9	14	2	0			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chrX:50659329C>T	ENST00000252677.3	+	2	901	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	301					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AATCAGCTTCCGCCAGCTGGG	0.498																																						ENST00000252677.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(901-903)Cgc>Tgc		bone morphogenetic protein 15							127	109	115					X																	50659329		2203	4299	6502	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659329C>T	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"Bone morphogenetic proteins"	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.901C>T	X.37:g.50659329C>T	ENSP00000252677:p.Arg301Cys		Somatic					p.R301C	NM_005448.2	NP_005439.2	WXS	Illumina GAIIx	Phase_I	O95972	BMP15_HUMAN			2	901	+	Ovarian(276;0.236)		301					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.901C>T	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	c	9.983	1.228787	0.22542	.	.	ENSG00000130385	ENST00000252677	D	0.89939	-2.59	5.58	2.65	0.31530	Transforming growth factor-beta, C-terminal (3);	0.892392	0.10051	N	0.722224	D	0.91260	0.7245	M	0.75777	2.31	0.19575	N	0.999968	D	0.64830	0.994	P	0.55055	0.767	T	0.80585	-0.1317	10	0.66056	D	0.02	.	6.7908	0.23699	0.3088:0.6043:0.0:0.087	.	301	O95972	BMP15_HUMAN	C	301	ENSP00000252677:R301C	ENSP00000252677:R301C	R	+	1	0	BMP15	50676069	0.000000	0.05858	0.039000	0.18376	0.003000	0.03518	0.110000	0.15437	0.517000	0.28361	-0.215000	0.12644	CGC		0.498	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		77	65	0	0	0	1	0	77	65					T	50659329	C	T	50659329	3	4	42	1	0	0	0	0	1	0	0	0	1458	652	23	1	907	1	BMP15	23	50659329	Missense_Mutation	SNP	C	TCGA-NA-A4QY-01A-11D-A28R-08	1303436	50659329	104611231	55	4012										
MAMLD1	10046	broad.mit.edu	37	chrX	149639635	149639635	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0714285714285714	4	1	0.797155688622755	2.39146706586826	0.265718562874251	0.523809523809524	1	0	cactgccaccttgcagctgcAgcagcagcagcagcaacagc	10	16	0	0			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1789-1791)cAg>cTg		mastermind-like domain containing 1							67	59	62					X																	149639635		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639635A>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.1790A>T	X.37:g.149639635A>T	ENSP00000359428:p.Gln597Leu		Somatic				MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L	p.Q597L			WXS	Illumina GAIIx	Phase_I	Q13495	MAMD1_HUMAN			4	2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		597			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1790A>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	11.70	1.717048	0.30413	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68181	0.18;-0.31;0.18;0.17;0.83	3.95	-2.22	0.06952	.	0.914301	0.09376	N	0.810639	T	0.65565	0.2703	L	0.44542	1.39	0.26213	N	0.979273	P;P;P;P	0.51351	0.835;0.835;0.944;0.835	P;P;P;P	0.49999	0.529;0.529;0.628;0.529	T	0.63198	-0.6691	10	0.66056	D	0.02	-0.2357	12.9577	0.58441	0.4497:0.5503:0.0:0.0	.	469;572;572;597	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	L	469;597;572;597;572;78	ENSP00000359428:Q597L;ENSP00000414517:Q572L;ENSP00000262858:Q597L;ENSP00000397438:Q572L;ENSP00000389106:Q78L	ENSP00000262858:Q597L	Q	+	2	0	MAMLD1	149390293	0.130000	0.22417	0.006000	0.13384	0.394000	0.30568	0.878000	0.28126	-0.614000	0.05687	-0.496000	0.04628	CAG		0.607	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		5	164	0	0	0	1	0	5	164					T	149639635	A	T	149639635	3	4	42	1	0	0	0	0	1	0	0	0	9217	188	7	4	1800	4	MAMLD1	23	149639635	Missense_Mutation	SNP	A	TCGA-NA-A4QY-01A-11D-A28R-08	98980306	149639635	5630925	56	4013										
HP1BP3	50809	broad.mit.edu	37	chr1	21100010	21100010	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	gaagccatcggtgtttgtttCtgggccctggctagctggct	14	10	1	0			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:21100010C>A	ENST00000312239.5	-	5	583	c.444G>T	c.(442-444)caG>caT	p.Q148H	HP1BP3_ENST00000487117.1_5'Flank|HP1BP3_ENST00000375003.2_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	148					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)		GTGTTTGTTTCTGGGCCCTGG	0.423																																						ENST00000312239.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16						c.(442-444)caG>caT		heterochromatin protein 1, binding protein 3							115	115	115					1																	21100010		2203	4300	6503	SO:0001583	missense	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21100010C>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.444G>T	1.37:g.21100010C>A	ENSP00000312625:p.Gln148His		Somatic				HP1BP3_ENST00000375003.2_5'UTR	p.Q148H	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)	5	583	-		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)	148					A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	ENST00000312239.5	37	c.444G>T	CCDS30621.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179607	0.78564	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000419948;ENST00000438032;ENST00000424732	T;T;T	0.49139	0.79;1.8;1.82	6.16	5.26	0.73747	.	0.179246	0.52532	D	0.000080	T	0.56630	0.1998	L	0.27053	0.805	0.80722	D	1	D;D	0.64830	0.994;0.992	P;D	0.72075	0.902;0.976	T	0.61412	-0.7068	10	0.66056	D	0.02	-12.6949	15.548	0.76123	0.0:0.9344:0.0:0.0656	.	110;148	Q5SSJ5-2;Q5SSJ5	.;HP1B3_HUMAN	H	148;110;34;148;110	ENSP00000312625:Q148H;ENSP00000403039:Q148H;ENSP00000402754:Q110H	ENSP00000312625:Q148H	Q	-	3	2	HP1BP3	20972597	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.116000	0.57871	1.632000	0.50472	-0.142000	0.14014	CAG		0.423	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		17	44	1	0	4.75885e-15	1	5.77407e-15	17	44					A	21100010	C	A	21100010	3	1	43	1	0	0	0	0	1	0	0	0	7337	912	32	2	1253	2	HP1BP3	1	21100010	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08		21100010	228150611	1	4014										
LYPLA2	11313	broad.mit.edu	37	chr1	24120731	24120731	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	cagggcggggccctgtccctCtacacggccctcacctgccc	11	20	2	0			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:24120731C>G	ENST00000374514.3	+	8	694	c.387C>G	c.(385-387)ctC>ctG	p.L129L	LYPLA2_ENST00000374502.3_Silent_p.L129L|LYPLA2_ENST00000374505.2_Missense_Mutation_p.L105V|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374501.1_Silent_p.L62L|LYPLA2_ENST00000400061.1_Missense_Mutation_p.L105V|LYPLA2_ENST00000374503.3_Silent_p.L129L	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	129					fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCCTGTCCCTCTACACGGCCC	0.701																																						ENST00000400061.1																			0				endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(313-315)Cta>Gta		lysophospholipase II							28	33	31					1																	24120731		2202	4298	6500	SO:0001819	synonymous_variant	11313				fatty acid metabolic process	cytoplasm	hydrolase activity	g.chr1:24120731C>G	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961	ENST00000374514.3:c.387C>G	1.37:g.24120731C>G			Somatic				LYPLA2_ENST00000374514.3_Silent_p.L129L|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374505.2_Missense_Mutation_p.L105V|LYPLA2_ENST00000374501.1_Silent_p.L62L|LYPLA2_ENST00000374503.3_Silent_p.L129L|LYPLA2_ENST00000374502.3_Silent_p.L129L	p.L105V			WXS	Illumina GAIIx	Phase_I	O95372	LYPA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	7	434	+		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	0					Q7Z4Z2	Missense_Mutation	SNP	ENST00000374514.3	37	c.313C>G	CCDS241.1	.	.	.	.	.	.	.	.	.	.	C	4.720	0.133836	0.09032	.	.	ENSG00000011009	ENST00000400061;ENST00000374505	.	.	.	5.0	1.71	0.24356	.	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	.	.	.	0.22903	N	0.998583	B	0.02656	0.0	B	0.01281	0.0	T	0.31779	-0.9931	8	0.45353	T	0.12	.	10.6809	0.45813	0.0:0.5064:0.4122:0.0815	.	105	Q5QPN9	.	V	105	.	ENSP00000363629:L105V	L	+	1	2	LYPLA2	23993318	0.987000	0.35691	1.000000	0.80357	0.642000	0.38348	0.078000	0.14761	1.061000	0.40601	0.462000	0.41574	CTA		0.701	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			4	25	0	0	0	1	0	4	25					G	24120731	C	G	24120731	2	3	43	1	0	0	0	0	0	0	0	1	9126	900	32	2		2	LYPLA2	1	24120731	Silent	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	3020721	24120731	225129890	2	4015										
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs		Somatic					p.C388fs	NM_005897.2	NP_005888.1	WXS	Illumina GAIIx	Phase_I	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		7	68						7	68	---	---	---	---	-	46184898	AC	-	46184897	7	5	43	1	0	1	0	1	0	0	0	0	7809	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-NA-A4R0-01A-11D-A28R-08	22064166	46184897	203065724	3	4016										
TARS2	80222	broad.mit.edu	37	chr1	150478148	150478148	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ccctcagccggagaatccgcCgggcccagcttgcccactac	10	19	1	1	rs146012895		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:150478148C>A	ENST00000369064.3	+	17	2009	c.1975C>A	c.(1975-1977)Cgg>Agg	p.R659R	ECM1_ENST00000369049.4_5'Flank|ECM1_ENST00000346569.6_5'Flank|TARS2_ENST00000606933.1_Silent_p.R577R|TARS2_ENST00000369054.2_Silent_p.R529R|ECM1_ENST00000369047.4_5'Flank	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	659					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)	GAGAATCCGCCGGGCCCAGCT	0.557																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1975-1977)Cgg>Agg		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						68	71	70					1																	150478148		2203	4300	6503	SO:0001819	synonymous_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150478148C>A	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	30740	protein-coding gene	gene with protein product	"threonine tRNA ligase 2, mitochondrial"	612805	"threonyl-tRNA synthetase-like 1"	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1975C>A	1.37:g.150478148C>A			Somatic				TARS2_ENST00000606933.1_Silent_p.R577R|TARS2_ENST00000369054.2_Silent_p.R529R	p.R659R	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)		17	2009	+	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)		659					Q53GW7|Q96I50|Q9H9V2	Silent	SNP	ENST00000369064.3	37	c.1975C>A	CCDS952.1																																																																																				0.557	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		5	98	1	0	0.000602214	1	0.000622744	5	98					A	150478148	C	A	150478148	2	1	43	1	0	0	0	0	0	0	0	1	15575	643	23	5		5	TARS2	1	150478148	Silent	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	104293251	150478148	98772473	4	4017										
C1orf43	25912	broad.mit.edu	37	chr1	154186393	154186393	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ggtacgaatggcatccagagCtttcatcctatacagatagt	9	9	1	2			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:154186393C>G	ENST00000368521.5	-	4	514	c.316G>C	c.(316-318)Gct>Cct	p.A106P	C1orf43_ENST00000350592.3_Missense_Mutation_p.A72P|C1orf43_ENST00000368519.1_Intron|C1orf43_ENST00000362076.4_Intron|C1orf43_ENST00000368516.1_Missense_Mutation_p.A72P|C1orf43_ENST00000368518.1_Missense_Mutation_p.A106P	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	106						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)					GCATCCAGAGCTTTCATCCTA	0.488																																						ENST00000368521.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10						c.(316-318)Gct>Cct		chromosome 1 open reading frame 43							153	145	147					1																	154186393		2203	4300	6503	SO:0001583	missense	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154186393C>G	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.316G>C	1.37:g.154186393C>G	ENSP00000357507:p.Ala106Pro		Somatic				C1orf43_ENST00000350592.3_Missense_Mutation_p.A72P|C1orf43_ENST00000362076.4_Intron|C1orf43_ENST00000368516.1_Missense_Mutation_p.A72P|C1orf43_ENST00000368519.1_Intron|C1orf43_ENST00000368518.1_Missense_Mutation_p.A106P	p.A106P	NM_001098616.1	NP_001092086.1	WXS	Illumina GAIIx	Phase_I	Q9BWL3	CA043_HUMAN			4	514	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		106					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Missense_Mutation	SNP	ENST00000368521.5	37	c.316G>C	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495478	0.85069	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000368518;ENST00000368516	.	.	.	5.46	5.46	0.80206	.	0.100601	0.64402	D	0.000001	T	0.70281	0.3206	M	0.75615	2.305	0.53688	D	0.999973	D;P	0.57257	0.979;0.834	P;P	0.62184	0.899;0.541	T	0.73720	-0.3894	9	0.87932	D	0	-13.0674	11.8796	0.52566	0.0:0.9217:0.0:0.0783	.	106;72	Q9BWL3;Q09GN0	CA043_HUMAN;.	P	72;106;106;72	.	ENSP00000271925:A72P	A	-	1	0	C1orf43	152453017	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.908000	0.56355	2.861000	0.98227	0.650000	0.86243	GCT		0.488	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		32	103	0	0	0	1	0	32	103					G	154186393	C	G	154186393	3	3	43	1	0	0	0	0	1	0	0	0	2042	797	28	5	461	5	C1orf43	1	154186393	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	3708245	154186393	95064228	5	4018										
FCRL3	115352	broad.mit.edu	37	chr1	157665945	157665945	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	agaacatgcagctctgccaaCagggaacgctgggtctttct	11	11	3	1			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:157665945C>A	ENST00000368184.3	-	7	1308	c.1017G>T	c.(1015-1017)ctG>ctT	p.L339L	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Silent_p.L339L	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	339	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCTCTGCCAACAGGGAACGCT	0.522																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(1015-1017)ctG>ctT		Fc receptor-like 3							138	122	127					1																	157665945		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157665945C>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1017G>T	1.37:g.157665945C>A			Somatic				FCRL3_ENST00000368186.5_Silent_p.L339L|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	p.L339L	NM_052939.3	NP_443171.2	WXS	Illumina GAIIx	Phase_I	Q96P31	FCRL3_HUMAN			7	1308	-	all_hematologic(112;0.0378)		339			Ig-like C2-type 4.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.1017G>T	CCDS1167.1																																																																																				0.522	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		22	65	1	0	3.5997e-14	1	4.31017e-14	22	65					A	157665945	C	A	157665945	2	1	43	1	0	0	0	0	0	0	0	1	5804	465	17	5		5	FCRL3	1	157665945	Silent	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	3479552	157665945	91584676	6	4019										
PYCR2	29920	broad.mit.edu	37	chr1	226109286	226109286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ccccgagttggattgccaggCgccgtggcaaacccatcttc	11	15	1	0			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:226109286C>T	ENST00000343818.6	-	5	747	c.599G>A	c.(598-600)cGc>cAc	p.R200H	RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.R126H|PYCR2_ENST00000478402.1_5'UTR	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	200					L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	GATTGCCAGGCGCCGTGGCAA	0.572																																						ENST00000343818.6																			0				kidney(1)|lung(3)	4						c.(598-600)cGc>cAc		pyrroline-5-carboxylate reductase family, member 2	L-Proline(DB00172)|NADH(DB00157)						76	82	80					1																	226109286		2203	4300	6503	SO:0001583	missense	29920				proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity	g.chr1:226109286C>T	AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811			30262	protein-coding gene	gene with protein product						12477932	Standard	NM_013328		Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.599G>A	1.37:g.226109286C>T	ENSP00000342502:p.Arg200His		Somatic				RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.R126H|PYCR2_ENST00000478402.1_5'UTR	p.R200H	NM_013328.2	NP_037460.2	WXS	Illumina GAIIx	Phase_I	Q96C36	P5CR2_HUMAN			5	747	-	Breast(184;0.197)		200					A8K798|Q7Z515|Q9Y5J4	Missense_Mutation	SNP	ENST00000343818.6	37	c.599G>A	CCDS31043.1	.	.	.	.	.	.	.	.	.	.	c	15.70	2.911566	0.52439	.	.	ENSG00000255835;ENSG00000143811;ENSG00000143811	ENST00000432920;ENST00000343818;ENST00000316940	D;D	0.84442	-1.85;-1.85	4.83	2.96	0.34315	6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	N	0.20574	0.59	0.47153	D	0.999335	P;B	0.45212	0.853;0.17	B;B	0.25759	0.063;0.005	T	0.65693	-0.6106	10	0.44086	T	0.13	-11.2917	9.5129	0.39087	0.0:0.8256:0.0:0.1744	.	126;200	E7EUD8;Q96C36	.;P5CR2_HUMAN	H	126;200;199	ENSP00000414068:R126H;ENSP00000342502:R200H	ENSP00000321781:R199H	R	-	2	0	PYCR2;RP4-559A3.7	224175909	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	5.738000	0.68613	0.749000	0.32854	-0.140000	0.14226	CGC		0.572	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091314.1	NM_013328		25	46	0	0	0	1	0	25	46					T	226109286	C	T	226109286	3	4	43	1	0	0	0	0	1	0	0	0	12871	768	27	1	375	1	PYCR2	1	226109286	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	68443341	226109286	23141335	7	4020										
RNF181	51255	broad.mit.edu	37	chr2	85822893	85822893	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	aaggctgggcagccatggcgTcctatttcgatgaacacgac	12	11	0	1			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr2:85822893T>C	ENST00000306368.4	+	1	37	c.7T>C	c.(7-9)Tcc>Ccc	p.S3P	RNF181_ENST00000441634.1_Missense_Mutation_p.S3P	NM_016494.3	NP_057578.1	Q9P0P0	RN181_HUMAN	ring finger protein 181	3					protein autoubiquitination (GO:0051865)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)|stomach(1)	2						AGCCATGGCGTCCTATTTCGA	0.642																																						ENST00000441634.1																			0				lung(1)|stomach(1)	2						c.(7-9)Tcc>Ccc		ring finger protein 181							41	34	37					2																	85822893		2203	4300	6503	SO:0001583	missense	51255						ligase activity|zinc ion binding	g.chr2:85822893T>C	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.7T>C	2.37:g.85822893T>C	ENSP00000306906:p.Ser3Pro		Somatic				RNF181_ENST00000306368.4_Missense_Mutation_p.S3P	p.S3P			WXS	Illumina GAIIx	Phase_I	Q9P0P0	RN181_HUMAN			1	46	+			3					Q53H81	Missense_Mutation	SNP	ENST00000306368.4	37	c.7T>C	CCDS1981.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854758	0.91355	.	.	ENSG00000168894	ENST00000441634;ENST00000306368;ENST00000414390	D;D	0.91011	-2.77;-2.77	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.94420	0.8205	M	0.72118	2.19	0.58432	D	0.999997	D	0.76494	0.999	D	0.83275	0.996	D	0.94477	0.7690	10	0.54805	T	0.06	.	13.4646	0.61245	0.0:0.0:0.0:1.0	.	3	Q9P0P0	RN181_HUMAN	P	3	ENSP00000412025:S3P;ENSP00000306906:S3P	ENSP00000306906:S3P	S	+	1	0	RNF181	85676404	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.406000	0.73276	2.080000	0.62538	0.459000	0.35465	TCC		0.642	RNF181-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252500.1	NM_016494		6	41	0	0	0	1	0	6	41					C	85822893	T	C	85822893	3	2	43	1	0	0	0	0	1	0	0	0	13480	1667	58	4	9	4	RNF181	2	85822893	Missense_Mutation	SNP	T	TCGA-NA-A4R0-01A-11D-A28R-08		85822893	157376480	8	4021										
GLI2	2736	broad.mit.edu	37	chr2	121732502	121732502	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	acagcgacctcttttcagggCcaggtgtctggacacggctc	12	13	3	0			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr2:121732502C>A	ENST00000452319.1	+	9	1245	c.1185C>A	c.(1183-1185)ggC>ggA	p.G395G	GLI2_ENST00000361492.4_Silent_p.G395G|GLI2_ENST00000435313.2_Intron|GLI2_ENST00000314490.11_Silent_p.G67G					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)				CTTTTCAGGGCCAGGTGTCTG	0.567																																						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.(1183-1185)ggC>ggA		GLI family zinc finger 2							111	97	102					2																	121732502		2203	4300	6503	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121732502C>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.1185C>A	2.37:g.121732502C>A			Somatic				GLI2_ENST00000435313.2_Intron|GLI2_ENST00000361492.4_Silent_p.G395G|GLI2_ENST00000314490.11_Silent_p.G67G	p.G395G			WXS	Illumina GAIIx	Phase_I	P10070	GLI2_HUMAN			9	1245	+	Renal(3;0.0496)	Prostate(154;0.0623)	395						Silent	SNP	ENST00000452319.1	37	c.1185C>A	CCDS33283.1																																																																																				0.567	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		15	72	1	0	3.35478e-16	1	4.12547e-16	15	72					A	121732502	C	A	121732502	2	1	43	1	0	0	0	0	0	0	0	1	6446	726	26	5		5	GLI2	2	121732502	Silent	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	35909609	121732502	121466871	9	4022										
PLA2R1	22925	broad.mit.edu	37	chr2	160801542	160801542	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ctgtgtctggcttccgaatgCcccagtttgactggtctgtg	12	11	2	1			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr2:160801542C>A	ENST00000283243.7	-	28	4225	c.4019G>T	c.(4018-4020)gGc>gTc	p.G1340V	PLA2R1_ENST00000460710.1_5'Flank	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1340	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTTCCGAATGCCCCAGTTTGA	0.433																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(4018-4020)gGc>gTc		phospholipase A2 receptor 1, 180kDa							108	94	99					2																	160801542		2203	4300	6503	SO:0001583	missense	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160801542C>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.4019G>T	2.37:g.160801542C>A	ENSP00000283243:p.Gly1340Val		Somatic					p.G1340V	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	WXS	Illumina GAIIx	Phase_I	Q13018	PLA2R_HUMAN			28	4225	-			1340			C-type lectin 8.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.4019G>T	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534567	0.64972	.	.	ENSG00000153246	ENST00000283243	T	0.17691	2.26	5.75	4.87	0.63330	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.212047	0.40908	D	0.000985	T	0.32823	0.0842	L	0.60067	1.865	0.80722	D	1	P;D	0.67145	0.899;0.996	P;P	0.60345	0.665;0.873	T	0.02805	-1.1108	9	.	.	.	.	13.331	0.60488	0.0:0.9268:0.0:0.0732	.	1338;1340	B7ZML4;Q13018	.;PLA2R_HUMAN	V	1340	ENSP00000283243:G1340V	.	G	-	2	0	PLA2R1	160509788	1.000000	0.71417	0.971000	0.41717	0.972000	0.66771	2.473000	0.45145	1.566000	0.49654	0.650000	0.86243	GGC		0.433	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			13	35	1	0	7.03913e-09	1	7.90815e-09	13	35					A	160801542	C	A	160801542	3	1	43	1	0	0	0	0	1	0	0	0	12019	739	26	5	384	5	PLA2R1	2	160801542	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	39069040	160801542	82397831	10	4023										
WNT7A	7476	broad.mit.edu	37	chr3	13896248	13896248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	gtacaggcagctgtgatggcGtgggccacgccggcggcaat	17	11	0	1			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr3:13896248G>A	ENST00000285018.4	-	3	655	c.351C>T	c.(349-351)caC>caT	p.H117H		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	117					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CTGTGATGGCGTGGGCCACGC	0.642																																						ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(349-351)caC>caT		wingless-type MMTV integration site family, member 7A							87	81	83					3																	13896248		2203	4300	6503	SO:0001819	synonymous_variant	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13896248G>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"Wingless-type MMTV integration sites"	12786	protein-coding gene	gene with protein product	"proto-oncogene Wnt7a protein"	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.351C>T	3.37:g.13896248G>A			Somatic					p.H117H	NM_004625.3	NP_004616.2	WXS	Illumina GAIIx	Phase_I	O00755	WNT7A_HUMAN			3	655	-			117					Q96H90|Q9Y560	Silent	SNP	ENST00000285018.4	37	c.351C>T	CCDS2616.1																																																																																				0.642	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		21	93	0	0	0	1	0	21	93					A	13896248	G	A	13896248	2	1	43	1	0	0	0	0	0	0	0	1	17409	1136	40	1		1	WNT7A	3	13896248	Silent	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08		13896248	184126182	11	4024										
SCN10A	6336	broad.mit.edu	37	chr3	38798315	38798315	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	tagaaagatcccaggaagatTacgagcacaaaaaagatcat	8	7	1	4			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr3:38798315T>G	ENST00000449082.2	-	9	1139	c.1140A>C	c.(1138-1140)gtA>gtC	p.V380V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	380					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)	CCAGGAAGATTACGAGCACAA	0.463																																						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.(1138-1140)gtA>gtC		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)						124	125	125					3																	38798315		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38798315T>G	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.1140A>C	3.37:g.38798315T>G			Somatic					p.V380V	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)	9	1139	-			380					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.1140A>C	CCDS33736.1																																																																																				0.463	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		18	140	0	0	0	1	0	18	140					G	38798315	T	G	38798315	2	3	43	1	0	0	0	0	0	0	0	1	13927	1741	61	4		4	SCN10A	3	38798315	Silent	SNP	T	TCGA-NA-A4R0-01A-11D-A28R-08	24902067	38798315	159224115	12	4025										
SEC61A1	29927	broad.mit.edu	37	chr3	127786361	127786361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	tggctccgtgttagaagaccCggtccatgcagttgtataca	11	10	0	2			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr3:127786361C>T	ENST00000243253.3	+	10	1257	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L	RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000424880.2_Missense_Mutation_p.P238L|SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000464451.1_Missense_Mutation_p.P364L	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	358					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)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TTAGAAGACCCGGTCCATGCA	0.512																																						ENST00000243253.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						c.(1072-1074)cCg>cTg		Sec61 alpha 1 subunit (S. cerevisiae)							154	153	153					3																	127786361		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.chr3:127786361C>T	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.1073C>T	3.37:g.127786361C>T	ENSP00000243253:p.Pro358Leu		Somatic				SEC61A1_ENST00000424880.2_Missense_Mutation_p.P238L|SEC61A1_ENST00000483956.1_3'UTR|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000464451.1_Missense_Mutation_p.P364L	p.P358L	NM_013336.3	NP_037468.1	WXS	Illumina GAIIx	Phase_I	P61619	S61A1_HUMAN			10	1257	+			358					P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	ENST00000243253.3	37	c.1073C>T	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797275	0.70567	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.05	5.05	0.67936	SecY subunit domain (2);	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86509	0.1808	9	0.87932	D	0	.	18.4158	0.90570	0.0:1.0:0.0:0.0	.	358	P61619	S61A1_HUMAN	L	364;358;238	.	ENSP00000243253:P358L	P	+	2	0	SEC61A1	129269051	1.000000	0.71417	0.945000	0.38365	0.104000	0.19210	7.818000	0.86416	2.338000	0.79540	0.655000	0.94253	CCG		0.512	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		14	96	0	0	0	1	0	14	96					T	127786361	C	T	127786361	3	4	43	1	0	0	0	0	1	0	0	0	14015	652	23	1	1111	1	SEC61A1	3	127786361	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	88988046	127786361	70236069	13	4026										
PIK3CA	5290	broad.mit.edu	37	chr3	178936092	178936092	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	tcctctctctgaaatcactgAgcaggagaaagattttctat	7	9	4	4	rs121913274		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr3:178936092A>C	ENST00000263967.3	+	10	1791	c.1634A>C	c.(1633-1635)gAg>gCg	p.E545A		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.E545A(96)|p.E545G(78)|p.E545V(4)		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)	GAAATCACTGAGCAGGAGAAA	0.353	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		178	Substitution - Missense(178)	p.E545A(96)|p.E545G(78)|p.E545V(4)	breast(40)|large_intestine(39)|ovary(30)|endometrium(17)|skin(9)|urinary_tract(8)|upper_aerodigestive_tract(4)|central_nervous_system(4)|oesophagus(4)|stomach(4)|liver(4)|thyroid(3)|soft_tissue(3)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|NS(1)|eye(1)|pancreas(1)|prostate(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>gCg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61	61	61					3																	178936092		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.chr3:178936092A>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.1634A>C	3.37:g.178936092A>C	ENSP00000263967:p.Glu545Ala	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.E545A	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	1791	+	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.1634A>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555316	0.86231	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	L	0.43757	1.38	0.80722	D	1	D	0.67145	0.996	D	0.65140	0.932	T	0.69109	-0.5232	10	0.34782	T	0.22	-25.7963	16.1026	0.81194	1.0:0.0:0.0:0.0	.	545	P42336	PK3CA_HUMAN	A	545	ENSP00000263967:E545A	ENSP00000263967:E545A	E	+	2	0	PIK3CA	180418786	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			7	19	0	0	0	1	0	7	19					C	178936092	A	C	178936092	3	2	43	1	0	0	0	0	1	0	0	0	11922	304	11	4	1668	4	PIK3CA	3	178936092	Missense_Mutation	SNP	A	TCGA-NA-A4R0-01A-11D-A28R-08	51149731	178936092	19086338	14	4027										
KLB	152831	broad.mit.edu	37	chr4	39408897	39408897	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	atggaaaaggaccttctataTgggatcatttcatccacaca	7	9	3	0			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr4:39408897T>C	ENST00000257408.4	+	1	425	c.328T>C	c.(328-330)Tgg>Cgg	p.W110R		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	110	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						ACCTTCTATATGGGATCATTT	0.413																																						ENST00000257408.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						c.(328-330)Tgg>Cgg		klotho beta							72	77	75					4																	39408897		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39408897T>C	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.328T>C	4.37:g.39408897T>C	ENSP00000257408:p.Trp110Arg		Somatic					p.W110R	NM_175737.3	NP_783864.1	WXS	Illumina GAIIx	Phase_I	Q86Z14	KLOTB_HUMAN			1	425	+			110			Glycosyl hydrolase-1 1.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.328T>C	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.368538	0.61624	.	.	ENSG00000134962	ENST00000257408	T	0.48201	0.82	4.29	4.29	0.51040	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80065	0.4555	H	0.98594	4.275	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87667	0.2538	10	0.87932	D	0	-10.9528	13.7014	0.62611	0.0:0.0:0.0:1.0	.	110;110	B7ZL50;Q86Z14	.;KLOTB_HUMAN	R	110	ENSP00000257408:W110R	ENSP00000257408:W110R	W	+	1	0	KLB	39085292	1.000000	0.71417	0.980000	0.43619	0.822000	0.46500	7.997000	0.88414	1.699000	0.51192	0.383000	0.25322	TGG		0.413	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		16	43	0	0	0	1	0	16	43					C	39408897	T	C	39408897	3	2	43	1	0	0	0	0	1	0	0	0	8341	1464	51	4	330	4	KLB	4	39408897	Missense_Mutation	SNP	T	TCGA-NA-A4R0-01A-11D-A28R-08		39408897	151745379	15	4028										
PRDM8	56978	broad.mit.edu	37	chr4	81123265	81123265	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	aagaccagcagcagcagcagCaggaggcacctttaggcccg	13	13	0	1			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr4:81123265C>G	ENST00000504452.1	+	8	1488	c.649C>G	c.(649-651)Cag>Gag	p.Q217E	PRDM8_ENST00000415738.2_Missense_Mutation_p.Q217E|PRDM8_ENST00000339711.4_Missense_Mutation_p.Q217E			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcagcagcagcagGAGGCACC	0.672											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.(649-651)Cag>Gag		PR domain containing 8							18	24	22					4																	81123265		2023	4187	6210	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123265C>G	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.649C>G	4.37:g.81123265C>G	ENSP00000423985:p.Gln217Glu		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.Q217E|PRDM8_ENST00000504452.1_Missense_Mutation_p.Q217E	p.Q217E	NM_020226.3	NP_064611.3	WXS	Illumina GAIIx	Phase_I	Q9NQV8	PRDM8_HUMAN			10	1880	+			217			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.649C>G	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122577	0.37436	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.63417	-0.04;0.54;-0.04;-0.04	4.66	4.66	0.58398	.	0.633514	0.14982	N	0.287212	T	0.46386	0.1390	N	0.24115	0.695	0.23889	N	0.996557	B	0.25105	0.118	B	0.24006	0.05	T	0.15263	-1.0443	10	0.02654	T	1	.	17.3364	0.87282	0.0:1.0:0.0:0.0	.	217	Q9NQV8	PRDM8_HUMAN	E	217	ENSP00000423985:Q217E;ENSP00000425149:Q217E;ENSP00000339764:Q217E;ENSP00000406998:Q217E	ENSP00000339764:Q217E	Q	+	1	0	PRDM8	81342289	0.010000	0.17322	0.510000	0.27712	0.511000	0.34104	1.329000	0.33770	2.420000	0.82092	0.313000	0.20887	CAG		0.672	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			4	90	0	0	0	1	0	4	90					G	81123265	C	G	81123265	3	3	43	1	0	0	0	0	1	0	0	0	12474	711	25	5	659	5	PRDM8	4	81123265	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	41714368	81123265	110031011	16	4029										
ENPEP	2028	broad.mit.edu	37	chr4	111430866	111430866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ggagaactggggactcatcaCgtacagagaaacgaacctgc	12	10	2	2	rs151125401		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr4:111430866C>T	ENST00000265162.5	+	5	1439	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	366					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)		GGACTCATCACGTACAGAGAA	0.453																																						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.(1096-1098)aCg>aTg		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)	C	MET/THR	0,4406		0,0,2203	160	150	154		1097	4.9	0.8	4	dbSNP_134	154	2,8598	2.2+/-6.3	0,2,4298	no	missense	ENPEP	NM_001977.3	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	366/958	111430866	2,13004	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.chr4:111430866C>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.1097C>T	4.37:g.111430866C>T	ENSP00000265162:p.Thr366Met		Somatic					p.T366M	NM_001977.3	NP_001968.3	WXS	Illumina GAIIx	Phase_I	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	5	1439	+		Hepatocellular(203;0.217)	366					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1097C>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849347	0.51270	0.0	2.33E-4	ENSG00000138792	ENST00000265162	T	0.04156	3.69	5.76	4.92	0.64577	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.084143	0.85682	D	0.000000	T	0.26774	0.0655	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.11616	-1.0580	10	0.87932	D	0	.	14.8213	0.70074	0.0:0.9308:0.0:0.0692	.	366	Q07075	AMPE_HUMAN	M	366	ENSP00000265162:T366M	ENSP00000265162:T366M	T	+	2	0	ENPEP	111650315	1.000000	0.71417	0.777000	0.31699	0.003000	0.03518	7.779000	0.85648	1.432000	0.47375	-0.140000	0.14226	ACG		0.453	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			15	90	0	0	0	1	0	15	90					T	111430866	C	T	111430866	3	4	43	1	0	0	0	0	1	0	0	0	5130	536	19	1	1115	1	ENPEP	4	111430866	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	30307601	111430866	79723410	17	4030										
HAPLN1	1404	broad.mit.edu	37	chr5	82940357	82940357	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	gcattgcaccagtccagcccGccccgccaggcgtcgtacag	11	18	0	0	rs369262984		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr5:82940357G>A	ENST00000274341.4	-	4	1450	c.600C>T	c.(598-600)ggC>ggT	p.G200G		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	200	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)	AGTCCAGCCCGCCCCGCCAGG	0.622																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(598-600)ggC>ggT		hyaluronan and proteoglycan link protein 1		G		1,4405	2.1+/-5.4	0,1,2202	40	44	42		600	-7.2	0.7	5		42	0,8600		0,0,4300	no	coding-synonymous	HAPLN1	NM_001884.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		200/355	82940357	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82940357G>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.600C>T	5.37:g.82940357G>A			Somatic					p.G200G	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	1450	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	200			Link 1.		B2R9A9	Silent	SNP	ENST00000274341.4	37	c.600C>T	CCDS4061.1																																																																																				0.622	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		16	50	0	0	0	1	0	16	50					A	82940357	G	A	82940357	2	1	43	1	0	0	0	0	0	0	0	1	6963	1074	38	1		1	HAPLN1	5	82940357	Silent	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08		82940357	97974903	18	4031										
PCDHA7	56141	broad.mit.edu	37	chr5	140214339	140214339	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ccatgtggacgtggaggtgaAggacattaacgacaaccctc	12	10	0	1	rs61730624	byFrequency	TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr5:140214339A>G	ENST00000525929.1	+	1	371	c.371A>G	c.(370-372)aAg>aGg	p.K124R	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.K124R|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	124	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)			GTGGAGGTGAAGGACATTAAC	0.607																																					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.(370-372)aAg>aGg									127	136	133					5																	140214339		2203	4300	6503	SO:0001583	missense	0							g.chr5:140214339A>G	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.371A>G	5.37:g.140214339A>G	ENSP00000436426:p.Lys124Arg		Somatic				PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.K124R|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.K124R	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	371	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.371A>G	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	A	2.049	-0.418289	0.04766	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.51325	0.71;0.71	3.99	-1.79	0.07932	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.255699	0.19274	N	0.118337	T	0.26340	0.0643	L	0.28192	0.835	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.16289	0.014;0.015	T	0.20472	-1.0274	10	0.15952	T	0.53	.	7.0843	0.25249	0.4596:0.1357:0.4048:0.0	rs61730624	124;124	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	R	124	ENSP00000436426:K124R;ENSP00000367365:K124R	ENSP00000367365:K124R	K	+	2	0	PCDHA7	140194523	0.000000	0.05858	0.992000	0.48379	0.851000	0.48451	-3.261000	0.00536	-0.578000	0.05959	-0.647000	0.03941	AAG		0.607	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		20	227	0	0	0	1	0	20	227					G	140214339	A	G	140214339	3	3	43	1	0	0	0	0	1	0	0	0	11538	72	3	4	373	4	PCDHA7	5	140214339	Missense_Mutation	SNP	A	TCGA-NA-A4R0-01A-11D-A28R-08	57273982	140214339	40700921	19	4032										
PCDHGA6	56109	broad.mit.edu	37	chr5	140754980	140754980	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	tcatctctctaaatgtggcaGacaccaacgacaacccgccc	6	16	3	1			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr5:140754980G>A	ENST00000517434.1	+	1	1330	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_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	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGTGGCAGACACCAACGA	0.498																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(1330-1332)Gac>Aac									135	148	143					5																	140754980		2123	4258	6381	SO:0001583	missense	0							g.chr5:140754980G>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.1330G>A	5.37:g.140754980G>A	ENSP00000429601:p.Asp444Asn		Somatic				PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.D444N	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	1330	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.1330G>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	26.4	4.738785	0.89573	.	.	ENSG00000253731	ENST00000517434	D	0.84298	-1.83	5.13	5.13	0.70059	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.32028	U	0.006682	D	0.94611	0.8263	M	0.93898	3.47	0.39781	D	0.972291	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95855	0.8878	10	0.87932	D	0	.	19.1356	0.93426	0.0:0.0:1.0:0.0	.	444;444	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	N	444	ENSP00000429601:D444N	ENSP00000429601:D444N	D	+	1	0	PCDHGA6	140735164	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.657000	0.98554	2.826000	0.97356	0.655000	0.94253	GAC		0.498	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		23	161	0	0	0	1	0	23	161					A	140754980	G	A	140754980	3	1	43	1	0	0	0	0	1	0	0	0	11567	942	33	3	1332	3	PCDHGA6	5	140754980	Missense_Mutation	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08	540641	140754980	40160280	20	4033										
UST	10090	broad.mit.edu	37	chr6	149395011	149395011	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	gactgtgacggtgaagaagaCtgtcccctctcctgaggctg	13	11	1	5			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr6:149395011C>A	ENST00000367463.4	+	8	1083	c.980C>A	c.(979-981)aCt>aAt	p.T327N	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	327					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GTGAAGAAGACTGTCCCCTCT	0.527																																						ENST00000367463.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12						c.(979-981)aCt>aAt		uronyl-2-sulfotransferase							114	97	103					6																	149395011		2203	4300	6503	SO:0001583	missense	10090				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity	g.chr6:149395011C>A	AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"Sulfotransferases, membrane-bound"	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.980C>A	6.37:g.149395011C>A	ENSP00000356433:p.Thr327Asn		Somatic				UST_ENST00000466695.1_3'UTR	p.T327N	NM_005715.2	NP_005706.1	WXS	Illumina GAIIx	Phase_I	Q9Y2C2	UST_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	8	1083	+		Ovarian(120;0.0907)	327					B2RCX6	Missense_Mutation	SNP	ENST00000367463.4	37	c.980C>A	CCDS5213.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091871	0.36952	.	.	ENSG00000111962	ENST00000367463	T	0.75260	-0.92	5.6	5.6	0.85130	.	0.278543	0.41097	D	0.000950	T	0.47930	0.1472	N	0.17082	0.46	0.46927	D	0.999251	B	0.09022	0.002	B	0.18263	0.021	T	0.46884	-0.9159	10	0.17832	T	0.49	-14.9756	19.612	0.95610	0.0:1.0:0.0:0.0	.	327	Q9Y2C2	UST_HUMAN	N	327	ENSP00000356433:T327N	ENSP00000356433:T327N	T	+	2	0	UST	149436704	0.999000	0.42202	0.972000	0.41901	0.998000	0.95712	4.204000	0.58460	2.632000	0.89209	0.563000	0.77884	ACT		0.527	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715		17	39	1	0	4.7546e-09	1	5.40836e-09	17	39					A	149395011	C	A	149395011	3	1	43	1	0	0	0	0	1	0	0	0	17108	565	20	5	1010	5	UST	6	149395011	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08		149395011	21720056	21	4034										
IGFBP1	3484	broad.mit.edu	37	chr7	45928490	45928490	+	Frame_Shift_Del	DEL	G	G	-													0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ggcgactgcacgctgcgcccGgggactcagttgccgcgcgc							TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr7:45928490delG	ENST00000275525.3	+	1	535	c.239delG	c.(238-240)cggfs	p.R80fs	IGFBP1_ENST00000457280.1_Frame_Shift_Del_p.R80fs|IGFBP1_ENST00000468955.1_Frame_Shift_Del_p.R80fs	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	80	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)|tissue regeneration (GO:0042246)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	insulin-like growth factor binding (GO:0005520)			large_intestine(2)|lung(4)	6						CGCTGCGCCCGGGGACTCAGT	0.756																																						ENST00000275525.3																			0				large_intestine(2)|lung(4)	6						c.(238-240)cgfs		insulin-like growth factor binding protein 1							2	3	2					7																	45928490		1521	3221	4742	SO:0001589	frameshift_variant	3484					extracellular space	insulin-like growth factor binding	g.chr7:45928490delG		CCDS5504.1	7p12.3	2014-09-16			ENSG00000146678	ENSG00000146678			5469	protein-coding gene	gene with protein product	"placental protein 12", "amniotic fluid binding protein", "alpha-pregnancy-associated endometrial globulin", "growth hormone independent-binding protein", "binding protein-28", "binding protein-26", "binding protein-25", "IGF-binding protein 1"	146730		IBP1		2461294	Standard	NM_000596		Approved	IGF-BP25, AFBP, hIGFBP-1, PP12	uc003tnp.3	P08833	OTTHUMG00000152343	ENST00000275525.3:c.239delG	7.37:g.45928490delG	ENSP00000275525:p.Arg80fs		Somatic				IGFBP1_ENST00000457280.1_Frame_Shift_Del_p.R80fs|IGFBP1_ENST00000468955.1_Frame_Shift_Del_p.R80fs	p.R80fs	NM_000596.2	NP_000587.1	WXS	Illumina GAIIx	Phase_I	P08833	IBP1_HUMAN			1	535	+			80			IGFBP N-terminal.		A4D2F4|D3DVL9|Q8IYP5	Frame_Shift_Del	DEL	ENST00000275525.3	37	c.239delG	CCDS5504.1																																																																																				0.756	IGFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251355.2	NM_000596		2	4						2	4	---	---	---	---	-	45928490	G	-	45928490	7	5	43	1	0	1	0	1	0	0	0	0	7587	1116	39	0	241	0	IGFBP1	7	45928490	Frame_Shift_Del	DEL	G	TCGA-NA-A4R0-01A-11D-A28R-08		45928490	113210173	22	4035										
POM121L12	285877	broad.mit.edu	37	chr7	53103788	53103788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	gcccggtgaccatcgggatcGcgccccctgagcgtcaggag	15	15	1	2			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr7:53103788G>A	ENST00000408890.4	+	1	440	c.424G>A	c.(424-426)Gcg>Acg	p.A142T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	142										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CATCGGGATCGCGCCCCCTGA	0.721																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(424-426)Gcg>Acg		POM121 transmembrane nucleoporin-like 12							21	25	24					7																	53103788		1955	4102	6057	SO:0001583	missense	285877							g.chr7:53103788G>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.424G>A	7.37:g.53103788G>A	ENSP00000386133:p.Ala142Thr		Somatic					p.A142T	NM_182595.3	NP_872401.3	WXS	Illumina GAIIx	Phase_I	Q8N7R1	P1L12_HUMAN			1	440	+			142					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.424G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	8.664	0.901192	0.17760	.	.	ENSG00000221900	ENST00000408890	T	0.47177	0.85	1.63	-0.313	0.12754	.	.	.	.	.	T	0.28928	0.0718	L	0.34521	1.04	0.09310	N	1	P	0.45078	0.85	B	0.37422	0.249	T	0.12682	-1.0538	9	0.41790	T	0.15	.	4.3459	0.11133	0.3683:0.0:0.6317:0.0	.	142	Q8N7R1	P1L12_HUMAN	T	142	ENSP00000386133:A142T	ENSP00000386133:A142T	A	+	1	0	POM121L12	53071282	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-1.010000	0.03656	-0.095000	0.12351	0.462000	0.41574	GCG		0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		10	49	0	0	0	1	0	10	49					A	53103788	G	A	53103788	3	1	43	1	0	0	0	0	1	0	0	0	12250	1087	38	1	426	1	POM121L12	7	53103788	Missense_Mutation	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08	7175298	53103788	106034875	23	4036										
CLDN4	1364	broad.mit.edu	37	chr7	73245572	73245572	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ggtaatgggcatcgcgctggCcgtcctgggctggctggccg	18	12	0	0			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr7:73245572C>G	ENST00000435050.1	+	2	2721	c.41C>G	c.(40-42)gCc>gGc	p.A14G	CLDN4_ENST00000431918.1_Missense_Mutation_p.A14G|CLDN4_ENST00000340958.2_Missense_Mutation_p.A14G			O14493	CLD4_HUMAN	claudin 4	14	Interaction with EPHA2.				calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				ATCGCGCTGGCCGTCCTGGGC	0.657																																						ENST00000435050.1																			0				kidney(2)|lung(4)|urinary_tract(1)	7						c.(40-42)gCc>gGc		claudin 4							52	48	49					7																	73245572		2203	4300	6503	SO:0001583	missense	1364				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity	g.chr7:73245572C>G	AB000712	CCDS5560.1	7q11.23	2008-07-18			ENSG00000189143	ENSG00000189143		"Claudins"	2046	protein-coding gene	gene with protein product	"Clostridium perfringens enterotoxin receptor 1", "Williams-Beuren syndrome chromosomal region 8 protein"	602909		CPETR, CPETR1		9334247, 9892664	Standard	NM_001305		Approved	CPE-R, WBSCR8, hCPE-R	uc003tzi.4	O14493	OTTHUMG00000023425	ENST00000435050.1:c.41C>G	7.37:g.73245572C>G	ENSP00000409544:p.Ala14Gly		Somatic				CLDN4_ENST00000340958.2_Missense_Mutation_p.A14G|CLDN4_ENST00000431918.1_Missense_Mutation_p.A14G	p.A14G			WXS	Illumina GAIIx	Phase_I	O14493	CLD4_HUMAN			2	2721	+		Lung NSC(55;0.159)	14						Missense_Mutation	SNP	ENST00000435050.1	37	c.41C>G	CCDS5560.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083876	0.36758	.	.	ENSG00000189143	ENST00000435050;ENST00000431918;ENST00000340958;ENST00000543176	D;D;D	0.88975	-2.45;-2.45;-2.45	5.31	5.31	0.75309	.	0.227149	0.44688	D	0.000428	T	0.81767	0.4892	N	0.21373	0.66	0.40618	D	0.98173	B	0.10296	0.003	B	0.17979	0.02	T	0.76418	-0.2966	10	0.14656	T	0.56	.	16.4741	0.84127	0.0:1.0:0.0:0.0	.	14	O14493	CLD4_HUMAN	G	14	ENSP00000409544:A14G;ENSP00000388639:A14G;ENSP00000342445:A14G	ENSP00000342445:A14G	A	+	2	0	CLDN4	72883508	0.544000	0.26441	1.000000	0.80357	0.972000	0.66771	1.179000	0.31993	2.496000	0.84212	0.561000	0.74099	GCC		0.657	CLDN4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348030.1	NM_001305		8	99	0	0	0	1	0	8	99					G	73245572	C	G	73245572	3	3	43	1	0	0	0	0	1	0	0	0	3489	739	26	5	43	5	CLDN4	7	73245572	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	20141784	73245572	85893091	24	4037										
RSBN1L	222194	broad.mit.edu	37	chr7	77378907	77378907	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ctaactgatgttgaagatcaAgcagccaaaggcatcctaaa	8	9	1	3			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr7:77378907A>G	ENST00000334955.8	+	3	897	c.870A>G	c.(868-870)caA>caG	p.Q290Q	RSBN1L_ENST00000445288.1_Silent_p.Q20Q	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	290						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGAAGATCAAGCAGCCAAAG	0.368																																						ENST00000334955.7																			0				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(868-870)caA>caG		round spermatid basic protein 1-like							107	99	101					7																	77378907		1854	4113	5967	SO:0001819	synonymous_variant	222194					nucleus		g.chr7:77378907A>G	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.870A>G	7.37:g.77378907A>G			Somatic				RSBN1L_ENST00000445288.1_Silent_p.Q20Q	p.Q290Q	NM_198467.2	NP_940869.2	WXS	Illumina GAIIx	Phase_I	Q6PCB5	RSBNL_HUMAN			3	897	+			290					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Silent	SNP	ENST00000334955.8	37	c.870A>G	CCDS43607.1																																																																																				0.368	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		10	73	0	0	0	1	0	10	73					G	77378907	A	G	77378907	2	3	43	1	0	0	0	0	0	0	0	1	13712	69	3	4		4	RSBN1L	7	77378907	Silent	SNP	A	TCGA-NA-A4R0-01A-11D-A28R-08	4133335	77378907	81759756	25	4038										
PDIA4	9601	broad.mit.edu	37	chr7	148718139	148718139	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	gcatcatttaggaccaagacTccattttcttccttaacttc	4	12	2	1			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr7:148718139T>C	ENST00000286091.4	-	2	421	c.189A>G	c.(187-189)ggA>ggG	p.G63G		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	63	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GGACCAAGACTCCATTTTCTT	0.418																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(187-189)ggA>ggG		protein disulfide isomerase family A, member 4							192	177	182					7																	148718139		2203	4300	6503	SO:0001819	synonymous_variant	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148718139T>C	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.189A>G	7.37:g.148718139T>C			Somatic					p.G63G	NM_004911.4	NP_004902.1	WXS	Illumina GAIIx	Phase_I	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		2	421	-	Melanoma(164;0.15)		63			Thioredoxin 1.		A8K4K6|Q549T6	Silent	SNP	ENST00000286091.4	37	c.189A>G	CCDS5893.1																																																																																				0.418	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		7	22	0	0	0	1	0	7	22					C	148718139	T	C	148718139	2	2	43	1	0	0	0	0	0	0	0	1	11679	1538	54	4		4	PDIA4	7	148718139	Silent	SNP	T	TCGA-NA-A4R0-01A-11D-A28R-08	71339232	148718139	10420524	26	4039										
PXDNL	137902	broad.mit.edu	37	chr8	52320810	52320810	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	aataagccgcggagaagagcCtctgggtcagctcaggactg	14	10	3	2			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr8:52320810C>A	ENST00000356297.4	-	17	3474	c.3374G>T	c.(3373-3375)aGg>aTg	p.R1125M	PXDNL_ENST00000543296.1_Missense_Mutation_p.R1125M	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1125					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)				GGAGAAGAGCCTCTGGGTCAG	0.577																																						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.(3373-3375)aGg>aTg		peroxidasin homolog (Drosophila)-like							66	72	70					8																	52320810		1908	4123	6031	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52320810C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3374G>T	8.37:g.52320810C>A	ENSP00000348645:p.Arg1125Met		Somatic				PXDNL_ENST00000543296.1_Missense_Mutation_p.R1125M	p.R1125M	NM_144651.4	NP_653252.3	WXS	Illumina GAIIx	Phase_I	A1KZ92	PXDNL_HUMAN			17	3474	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1125					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3374G>T	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.88|10.88	1.476100|1.476100	0.26511|0.26511	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000522933|ENST00000356297;ENST00000543296	.|T;T	.|0.73047	.|-0.71;-0.71	3.68|3.68	1.18|1.18	0.20946|0.20946	.|.	.|0.393217	.|0.20062	.|N	.|0.100078	T|T	0.80008|0.80008	0.4545|0.4545	M|M	0.82630|0.82630	2.6|2.6	0.25951|0.25951	N|N	0.982747|0.982747	.|D	.|0.67145	.|0.996	.|D	.|0.64687	.|0.928	T|T	0.69818|0.69818	-0.5042|-0.5042	5|10	.|0.87932	.|D	.|0	.|.	5.8846|5.8846	0.18874|0.18874	0.0:0.2813:0.0:0.7187|0.0:0.2813:0.0:0.7187	.|.	.|1125	.|A1KZ92	.|PXDNL_HUMAN	C|M	244|1125	.|ENSP00000348645:R1125M;ENSP00000444865:R1125M	.|ENSP00000348645:R1125M	G|R	-|-	1|2	0|0	PXDNL|PXDNL	52483363|52483363	0.006000|0.006000	0.16342|0.16342	0.009000|0.009000	0.14445|0.14445	0.008000|0.008000	0.06430|0.06430	-0.149000|-0.149000	0.10204|0.10204	-0.069000|-0.069000	0.12931|0.12931	-0.367000|-0.367000	0.07326|0.07326	GGC|AGG		0.577	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		27	99	1	0	1.2476e-16	1	1.55523e-16	27	99					A	52320810	C	A	52320810	3	1	43	1	0	0	0	0	1	0	0	0	12863	681	24	5	1045	5	PXDNL	8	52320810	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08		52320810	94043212	27	4040										
PGCP	10404	broad.mit.edu	37	chr8	97847356	97847356	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	gggcggtggaagctgccaagGtgggggctttggcatctctc	18	9	1	0	rs373864966|rs113098340		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr8:97847356G>T	ENST00000220763.5	+	3	799	c.589G>T	c.(589-591)Gtg>Ttg	p.V197L		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	197					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)										AGCTGCCAAGGTGGGGGCTTT	0.478																																						ENST00000220763.5																			0											c.(589-591)Gtg>Ttg		carboxypeptidase Q							99	100	99					8																	97847356		2203	4300	6503	SO:0001583	missense	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97847356G>T	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.589G>T	8.37:g.97847356G>T	ENSP00000220763:p.Val197Leu		Somatic					p.V197L	NM_016134.2	NP_057218.1	WXS	Illumina GAIIx	Phase_I	Q9Y646	PGCP_HUMAN			3	799	+			197					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	c.589G>T	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	G	4.641	0.119069	0.08881	.	.	ENSG00000104324	ENST00000220763	T	0.42131	0.98	5.63	4.75	0.60458	.	0.064020	0.64402	D	0.000008	T	0.27098	0.0664	N	0.16098	0.37	0.41313	D	0.987121	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04708	-1.0932	10	0.21014	T	0.42	-17.4832	15.0548	0.71904	0.0:0.1412:0.8588:0.0	.	197;197	B5MDX4;Q9Y646	.;PGCP_HUMAN	L	197	ENSP00000220763:V197L	ENSP00000220763:V197L	V	+	1	0	AC010859.1	97916532	1.000000	0.71417	0.765000	0.31456	0.135000	0.20990	5.808000	0.69165	1.359000	0.45940	0.655000	0.94253	GTG		0.478	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		5	70	1	0	0.014758	1	0.014922	5	70					T	97847356	G	T	97847356	3	4	43	1	0	0	0	0	1	0	0	0	11795	1261	44	5	595	5	PGCP	8	97847356	Missense_Mutation	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08	45526546	97847356	48516666	28	4041										
STK3	6788	broad.mit.edu	37	chr8	99539092	99539092	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	cttattcttgaagtcttgctTatcaaagtagtccatgaaag	7	7	3	2			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr8:99539092T>C	ENST00000419617.2	-	10	1335	c.1195A>G	c.(1195-1197)Aag>Gag	p.K399E	STK3_ENST00000523601.1_Missense_Mutation_p.K427E	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	399					apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		AAGTCTTGCTTATCAAAGTAG	0.363																																						ENST00000523601.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(1279-1281)Aag>Gag		serine/threonine kinase 3							148	142	144					8																	99539092		1872	4122	5994	SO:0001583	missense	6788				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	g.chr8:99539092T>C	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"serine/threonine kinase 3 (Ste20, yeast homolog)"			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.1195A>G	8.37:g.99539092T>C	ENSP00000390500:p.Lys399Glu		Somatic				STK3_ENST00000419617.2_Missense_Mutation_p.K399E	p.K427E	NM_001256312.1	NP_001243241.1	WXS	Illumina GAIIx	Phase_I	Q13188	STK3_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)	12	1678	-	Breast(36;2.4e-06)	Breast(495;0.106)	399					A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	c.1279A>G	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756076	0.69648	.	.	ENSG00000104375	ENST00000419617;ENST00000523601	T;T	0.21932	1.98;1.98	5.42	5.42	0.78866	.	0.106747	0.64402	D	0.000008	T	0.29620	0.0739	L	0.52905	1.665	0.80722	D	1	B;P	0.45078	0.085;0.85	B;P	0.46208	0.06;0.507	T	0.02676	-1.1125	10	0.59425	D	0.04	.	15.7464	0.77949	0.0:0.0:0.0:1.0	.	399;427	Q13188;B3KYA7	STK3_HUMAN;.	E	399;427	ENSP00000390500:K399E;ENSP00000429744:K427E	ENSP00000390500:K399E	K	-	1	0	STK3	99608268	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.628000	0.83189	2.176000	0.68965	0.455000	0.32223	AAG		0.363	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281		20	60	0	0	0	1	0	20	60					C	99539092	T	C	99539092	3	2	43	1	0	0	0	0	1	0	0	0	15310	1763	61	4	288	4	STK3	8	99539092	Missense_Mutation	SNP	T	TCGA-NA-A4R0-01A-11D-A28R-08	1691736	99539092	46824930	29	4042										
ZFAT	57623	broad.mit.edu	37	chr8	135521992	135521992	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ccgtggggtccagtcggtcgCcttaagaggaagaagcaaag	15	9	0	2			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr8:135521992C>T	ENST00000377838.3	-	15	3536	c.3362G>A	c.(3361-3363)gGc>gAc	p.G1121D	ZFAT_ENST00000520727.1_Splice_Site_p.G1109D|ZFAT_ENST00000429442.2_Splice_Site_p.G1109D|ZFAT_ENST00000520214.1_Splice_Site_p.G1109D|ZFAT_ENST00000517307.1_5'Flank|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000523399.1_Splice_Site_p.G1059D	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1121					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)			CAGTCGGTCGCCTTAAGAGGA	0.587																																						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.e16-1		zinc finger and AT hook domain containing							92	96	95					8																	135521992		2074	4198	6272	SO:0001630	splice_region_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135521992C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3362-1G>A	8.37:g.135521992C>T			Somatic				ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000520214.1_Splice_Site_p.G1109_splice|ZFAT_ENST00000377838.3_Splice_Site_p.G1121_splice|ZFAT_ENST00000429442.2_Splice_Site_p.G1109_splice|ZFAT_ENST00000523399.1_Splice_Site_p.G1059_splice	p.G1109_splice	NM_001029939.3	NP_001025110.2	WXS	Illumina GAIIx	Phase_I	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		16	3625	-	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)		1121					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Splice_Site	SNP	ENST00000377838.3	37	c.3325_splice	CCDS47924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.54|14.54	2.564882|2.564882	0.45694|0.45694	.|.	.|.	ENSG00000066827|ENSG00000066827	ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399|ENST00000521673	T;T;T;T;T|.	0.12774|.	2.9;2.65;2.9;2.9;2.92|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.218707|.	0.48286|.	D|.	0.000192|.	T|T	0.60104|0.60104	0.2243|0.2243	L|L	0.27053|0.27053	0.805|0.805	0.53005|0.53005	D|D	0.999968|0.999968	D;P;D|.	0.69078|.	0.995;0.953;0.997|.	P;B;D|.	0.63597|.	0.655;0.388;0.916|.	T|T	0.61515|0.61515	-0.7047|-0.7047	10|6	0.72032|0.56958	D|D	0.01|0.05	.|.	18.7468|18.7468	0.91795|0.91795	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	240;1059;1121|.	B7Z741;E9PER3;Q9P243|.	.;.;ZFAT_HUMAN|.	D|H	1109;1109;1121;1109;1008;1059|41	ENSP00000427831:G1109D;ENSP00000394501:G1109D;ENSP00000367069:G1121D;ENSP00000428483:G1109D;ENSP00000429091:G1059D|.	ENSP00000326997:G1008D|ENSP00000429600:R41H	G|R	-|-	2|2	0|0	ZFAT|ZFAT	135591174|135591174	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.288000|0.288000	0.27193|0.27193	5.733000|5.733000	0.68571|0.68571	2.672000|2.672000	0.90937|0.90937	0.557000|0.557000	0.71058|0.71058	GGC|CGC		0.587	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	Missense_Mutation	26	144	0	0	0	1	0	26	144					T	135521992	C	T	135521992	5	4	43	1	0	0	0	0	0	0	1	0	17647	753	26	3	377	3	ZFAT	8	135521992	Splice_Site	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	35982900	135521992	10842030	30	4043										
ZNF462	58499	broad.mit.edu	37	chr9	109691937	109691937	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ctcacacttgaacattcacaAtgaggaattccagaagcgtg	8	10	2	3			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr9:109691937A>G	ENST00000277225.5	+	3	6033	c.5744A>G	c.(5743-5745)aAt>aGt	p.N1915S	ZNF462_ENST00000441147.2_Missense_Mutation_p.N760S|ZNF462_ENST00000542028.1_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.N1915S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1915					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						AACATTCACAATGAGGAATTC	0.493																																						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.(5743-5745)aAt>aGt		zinc finger protein 462							117	106	110					9																	109691937		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691937A>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.5744A>G	9.37:g.109691937A>G	ENSP00000277225:p.Asn1915Ser		Somatic				ZNF462_ENST00000457913.1_Missense_Mutation_p.N1915S|ZNF462_ENST00000441147.2_Missense_Mutation_p.N760S	p.N1915S			WXS	Illumina GAIIx	Phase_I	Q96JM2	ZN462_HUMAN			3	6033	+			1915					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.5744A>G	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.921039	0.52653	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.05258	3.47;3.79;3.89;3.89	5.92	5.92	0.95590	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	L	0.32530	0.975	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.75020	0.969;0.985	T	0.01294	-1.1393	10	0.45353	T	0.12	.	16.3634	0.83296	1.0:0.0:0.0:0.0	.	1915;1915	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	S	1915;1915;798;760	ENSP00000277225:N1915S;ENSP00000414570:N1915S;ENSP00000363818:N798S;ENSP00000397306:N760S	ENSP00000277225:N1915S	N	+	2	0	ZNF462	108731758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.923000	0.92808	2.270000	0.75569	0.459000	0.35465	AAT		0.493	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		17	47	0	0	0	1	0	17	47					G	109691937	A	G	109691937	3	3	43	1	0	0	0	0	1	0	0	0	17941	101	4	4	5750	4	ZNF462	9	109691937	Missense_Mutation	SNP	A	TCGA-NA-A4R0-01A-11D-A28R-08		109691937	31521494	31	4044										
OR1L8	138881	broad.mit.edu	37	chr9	125330723	125330723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	gagtcccaggaggataaactCggagacactgctggtgtggt	15	8	0	1	rs143007621		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr9:125330723C>T	ENST00000304865.2	-	1	115	c.34G>A	c.(34-36)Gag>Aag	p.E12K		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGGATAAACTCGGAGACACTG	0.458													C|||	1	0.000199681	0	0	5008	,	,		20099	0		0.001	False		,,,				2504	0					ENST00000304865.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(34-36)Gag>Aag		olfactory receptor, family 1, subfamily L, member 8		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	126	155	145		34	2.6	1	9	dbSNP_134	145	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR1L8	NM_001004454.1	56	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	12/310	125330723	2,13004	2203	4300	6503	SO:0001583	missense	138881				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125330723C>T		CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"GPCR / Class A : Olfactory receptors"	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.34G>A	9.37:g.125330723C>T	ENSP00000306607:p.Glu12Lys		Somatic					p.E12K	NM_001004454.1	NP_001004454.1	WXS	Illumina GAIIx	Phase_I	Q8NGR8	OR1L8_HUMAN			1	115	-			12					A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	c.34G>A	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646941	0.67358	2.27E-4	1.16E-4	ENSG00000171496	ENST00000304865	T	0.01119	5.31	4.49	2.56	0.30785	.	0.155013	0.29737	N	0.011333	T	0.03434	0.0099	M	0.80616	2.505	0.28608	N	0.908833	D	0.57571	0.98	P	0.48901	0.594	T	0.09250	-1.0683	10	0.66056	D	0.02	-16.3323	12.2532	0.54610	0.0:0.671:0.329:0.0	.	12	Q8NGR8	OR1L8_HUMAN	K	12	ENSP00000306607:E12K	ENSP00000306607:E12K	E	-	1	0	OR1L8	124370544	0.000000	0.05858	0.973000	0.42090	0.848000	0.48234	0.158000	0.16422	0.612000	0.30071	0.449000	0.29647	GAG		0.458	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			4	61	0	0	0	1	0	4	61					T	125330723	C	T	125330723	3	4	43	1	0	0	0	0	1	0	0	0	10976	893	31	1	899	1	OR1L8	9	125330723	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	15638786	125330723	15882708	32	4045										
BAT2L1	84726	broad.mit.edu	37	chr9	134351701	134351701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	cggcgggaaggccctgggtcCgagcccgactcccaggtgga	17	14	0	0			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr9:134351701C>T	ENST00000357304.4	+	15	4240	c.4185C>T	c.(4183-4185)tcC>tcT	p.S1395S	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1395							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCCCTGGGTCCGAGCCCGACT	0.647											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(4183-4185)tcC>tcT		proline-rich coiled-coil 2B							12	14	13					9																	134351701		1890	4086	5976	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134351701C>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4185C>T	9.37:g.134351701C>T			Somatic	OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	p.S1395S	NM_013318.3	NP_037450.2	WXS	Illumina GAIIx	Phase_I	Q5JSZ5	PRC2B_HUMAN			15	4240	+			1395					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.4185C>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.842331	0.00573	.	.	ENSG00000130723	ENST00000451855	.	.	.	5.93	-2.95	0.05564	.	.	.	.	.	.	.	.	.	.	.	0.20764	N	0.999852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4692	0.32975	0.1037:0.3309:0.0:0.5654	.	.	.	.	X	129	.	.	R	+	1	2	PRRC2B	133341522	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-3.964000	0.00324	-0.845000	0.04179	-1.814000	0.00607	CGA		0.647	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	3	0	0	0	1	0	3	3					T	134351701	C	T	134351701	2	4	43	1	0	0	0	0	0	0	0	1	1320	639	23	1		1	BAT2L1	9	134351701	Silent	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	9020978	134351701	6861730	33	4046										
MYO3A	53904	broad.mit.edu	37	chr10	26434431	26434431	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ggagacccaaaagaatggaaCttagttttggaattcaccat	9	7	1	2			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr10:26434431C>A	ENST00000265944.5	+	22	2639	c.2473C>A	c.(2473-2475)Ctt>Att	p.L825I	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	825	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAGAATGGAACTTAGTTTTGG	0.328																																						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.(2473-2475)Ctt>Att		myosin IIIA							78	78	78					10																	26434431		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.chr10:26434431C>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2473C>A	10.37:g.26434431C>A	ENSP00000265944:p.Leu825Ile		Somatic				MYO3A_ENST00000543632.1_Intron	p.L825I	NM_017433.4	NP_059129.3	WXS	Illumina GAIIx	Phase_I	Q8NEV4	MYO3A_HUMAN			22	2639	+			825			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2473C>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735957	0.69189	.	.	ENSG00000095777	ENST00000265944	D	0.87491	-2.26	5.72	3.82	0.43975	Myosin head, motor domain (2);	0.062950	0.64402	N	0.000005	D	0.90328	0.6974	M	0.69248	2.105	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.87595	0.2493	10	0.42905	T	0.14	.	5.7711	0.18253	0.1256:0.6459:0.122:0.1065	.	825	Q8NEV4	MYO3A_HUMAN	I	825	ENSP00000265944:L825I	ENSP00000265944:L825I	L	+	1	0	MYO3A	26474437	0.346000	0.24844	0.984000	0.44739	0.998000	0.95712	0.949000	0.29109	0.719000	0.32188	0.655000	0.94253	CTT		0.328	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		5	29	1	0	4.096e-09	1	4.77867e-09	5	29					A	26434431	C	A	26434431	3	1	43	1	0	0	0	0	1	0	0	0	10085	565	20	5	2551	5	MYO3A	10	26434431	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08		26434431	109100316	34	4047										
PCDH15	65217	broad.mit.edu	37	chr10	55943228	55943228	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	atgacactgtccccaggtctCatgtctgtataaacatacac	6	12	2	1			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr10:55943228C>T	ENST00000320301.6	-	13	1960	c.1566G>A	c.(1564-1566)atG>atA	p.M522I	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.M522I|PCDH15_ENST00000373965.2_Missense_Mutation_p.M529I|PCDH15_ENST00000409834.1_Missense_Mutation_p.M133I|PCDH15_ENST00000437009.1_Missense_Mutation_p.M522I|PCDH15_ENST00000395438.1_Missense_Mutation_p.M522I|PCDH15_ENST00000395432.2_Missense_Mutation_p.M485I|PCDH15_ENST00000361849.3_Missense_Mutation_p.M522I|PCDH15_ENST00000395430.1_Missense_Mutation_p.M522I|PCDH15_ENST00000414778.1_Missense_Mutation_p.M527I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.M500I|PCDH15_ENST00000395433.1_Missense_Mutation_p.M500I|PCDH15_ENST00000395445.1_Missense_Mutation_p.M529I|PCDH15_ENST00000373955.1_Missense_Mutation_p.M522I	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	522	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCCCAGGTCTCATGTCTGTAT	0.378										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.(1585-1587)atG>atA		protocadherin-related 15							225	197	207					10																	55943228		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.chr10:55943228C>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.1566G>A	10.37:g.55943228C>T	ENSP00000322604:p.Met522Ile	HNSCC(58;0.16)	Somatic				PCDH15_ENST00000395430.1_Missense_Mutation_p.M522I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.M522I|PCDH15_ENST00000395432.2_Missense_Mutation_p.M485I|PCDH15_ENST00000414778.1_Missense_Mutation_p.M527I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.M500I|PCDH15_ENST00000395438.1_Missense_Mutation_p.M522I|PCDH15_ENST00000437009.1_Missense_Mutation_p.M522I|PCDH15_ENST00000361849.3_Missense_Mutation_p.M522I|PCDH15_ENST00000409834.1_Missense_Mutation_p.M133I|PCDH15_ENST00000373955.1_Missense_Mutation_p.M522I|PCDH15_ENST00000395445.1_Missense_Mutation_p.M529I|PCDH15_ENST00000395446.1_Missense_Mutation_p.M522I|PCDH15_ENST00000373957.3_Missense_Mutation_p.M500I	p.M529I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	WXS	Illumina GAIIx	Phase_I	Q96QU1	PCD15_HUMAN			14	1981	-		Melanoma(3;0.117)|Lung SC(717;0.238)	522			Cadherin 5.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1587G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727702	0.30593	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;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;0.75;0.75;0.75;0.75;0.75	5.12	5.12	0.69794	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.45196	0.1330	L	0.31476	0.935	0.80722	D	1	P;B;B;B;P;P;P;B;B;B;B;B;B;B;B	0.43024	0.771;0.333;0.392;0.392;0.798;0.592;0.771;0.099;0.182;0.182;0.044;0.099;0.028;0.094;0.333	P;B;B;B;B;B;P;B;B;B;B;B;B;B;B	0.48334	0.574;0.241;0.173;0.348;0.326;0.241;0.574;0.085;0.241;0.173;0.101;0.058;0.03;0.05;0.241	T	0.42582	-0.9443	9	0.56958	D	0.05	.	12.7668	0.57396	0.1643:0.8357:0.0:0.0	.	500;522;522;527;522;485;522;522;529;529;522;527;522;500;522	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	I	529;527;522;522;133;529;522;485;522;500;500;522;522;527;522;522	ENSP00000363076:M529I;ENSP00000410304:M527I;ENSP00000378826:M522I;ENSP00000386693:M133I;ENSP00000378832:M529I;ENSP00000378833:M522I;ENSP00000378820:M485I;ENSP00000354950:M522I;ENSP00000378821:M500I;ENSP00000363068:M500I;ENSP00000322604:M522I;ENSP00000378818:M522I;ENSP00000412628:M522I;ENSP00000363066:M522I	ENSP00000322604:M522I	M	-	3	0	PCDH15	55613234	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	5.624000	0.67764	2.546000	0.85860	0.655000	0.94253	ATG		0.378	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		4	59	0	0	0	1	0	4	59					T	55943228	C	T	55943228	3	4	43	1	0	0	0	0	1	0	0	0	11520	826	29	3	6004	3	PCDH15	10	55943228	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	29508797	55943228	79591519	35	4048										
COX15	1355	broad.mit.edu	37	chr10	101491747	101491747	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ggcgctgccctaggagccagGagcggcagatactgcctccc	14	15	0	1			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr10:101491747G>A	ENST00000016171.5	-	1	110	c.60C>T	c.(58-60)ctC>ctT	p.L20L	COX15_ENST00000370483.5_Silent_p.L20L|CUTC_ENST00000493385.1_Intron|CUTC_ENST00000370476.5_5'Flank			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	20					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TAGGAGCCAGGAGCGGCAGAT	0.612																																						ENST00000370483.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(58-60)ctC>ctT		cytochrome c oxidase assembly homolog 15 (yeast)							35	28	30					10																	101491747		2203	4300	6503	SO:0001819	synonymous_variant	1355				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr10:101491747G>A	AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"Mitochondrial respiratory chain complex assembly factors"	2263	protein-coding gene	gene with protein product		603646	"COX15 (yeast) homolog, cytochrome c oxidase assembly protein", "COX15 homolog, cytochrome c oxidase assembly protein (yeast)"			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.60C>T	10.37:g.101491747G>A			Somatic				CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Silent_p.L20L	p.L20L	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	WXS	Illumina GAIIx	Phase_I	Q7KZN9	COX15_HUMAN		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)	1	110	-		Colorectal(252;0.234)	20					A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Silent	SNP	ENST00000016171.5	37	c.60C>T	CCDS7482.1																																																																																				0.612	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		5	15	0	0	0	1	0	5	15					A	101491747	G	A	101491747	2	1	43	1	0	0	0	0	0	0	0	1	3766	1161	41	3		3	COX15	10	101491747	Silent	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08	45548519	101491747	34043000	36	4049										
PYGM	5837	broad.mit.edu	37	chr11	64519437	64519437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ggaggcagttgaggagctgtCgtttatattcgtgaatccgc	14	7	0	2			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr11:64519437C>T	ENST00000164139.3	-	14	2125	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q	PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Missense_Mutation_p.R488Q	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	576					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.R576Q(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGGAGCTGTCGTTTATATTC	0.517																																						ENST00000164139.3																			1	Substitution - Missense(1)	p.R576Q(1)	large_intestine(1)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1726-1728)cGa>cAa		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						206	174	185					11																	64519437		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64519437C>T		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.1727G>A	11.37:g.64519437C>T	ENSP00000164139:p.Arg576Gln		Somatic				PYGM_ENST00000377432.3_Missense_Mutation_p.R488Q|PYGM_ENST00000462303.1_5'UTR	p.R576Q	NM_005609.2	NP_005600.1	WXS	Illumina GAIIx	Phase_I	P11217	PYGM_HUMAN			14	2125	-			576					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.1727G>A	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	36	5.825684	0.96996	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.96041	-3.89;-3.86	5.71	5.71	0.89125	.	0.000000	0.53938	D	0.000045	D	0.98826	0.9604	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99441	1.0938	10	0.87932	D	0	-18.3338	17.3513	0.87324	0.0:1.0:0.0:0.0	.	488;576	A6NDY6;P11217	.;PYGM_HUMAN	Q	488;576;557	ENSP00000366650:R488Q;ENSP00000164139:R576Q	ENSP00000164139:R576Q	R	-	2	0	PYGM	64276013	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.783000	0.85696	2.698000	0.92095	0.561000	0.74099	CGA		0.517	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		9	83	0	0	0	1	0	9	83					T	64519437	C	T	64519437	3	4	43	1	0	0	0	0	1	0	0	0	12877	884	31	1	829	1	PYGM	11	64519437	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08		64519437	70487079	37	4050										
TRPC6	7225	broad.mit.edu	37	chr11	101362360	101362360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	cgtgatcaccactctggagcGtttcaacatccccattcaga	7	14	4	2	rs200661450		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr11:101362360G>A	ENST00000344327.3	-	3	1479	c.1055C>T	c.(1054-1056)aCg>aTg	p.T352M	TRPC6_ENST00000532133.1_Missense_Mutation_p.T352M|TRPC6_ENST00000360497.4_Missense_Mutation_p.T352M|TRPC6_ENST00000348423.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	352					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)		ACTCTGGAGCGTTTCAACATC	0.438																																					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.(1054-1056)aCg>aTg		transient receptor potential cation channel, subfamily C, member 6							133	131	132					11																	101362360		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.chr11:101362360G>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.1055C>T	11.37:g.101362360G>A	ENSP00000340913:p.Thr352Met		Somatic				TRPC6_ENST00000532133.1_Missense_Mutation_p.T352M|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000360497.4_Missense_Mutation_p.T352M	p.T352M	NM_004621.5	NP_004612.2	WXS	Illumina GAIIx	Phase_I	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	3	1479	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	352					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.1055C>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	G	5.689	0.311764	0.10789	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000360497	T;T;T	0.63417	-0.04;-0.04;-0.04	6.14	-2.33	0.06724	.	0.938795	0.09170	N	0.838944	T	0.47930	0.1472	N	0.25201	0.72	0.09310	N	1	B;B	0.17038	0.012;0.02	B;B	0.15484	0.013;0.006	T	0.27400	-1.0075	10	0.36615	T	0.2	-2.7408	15.5899	0.76521	0.3908:0.0:0.6092:0.0	.	352;352	Q9Y210-3;Q9Y210	.;TRPC6_HUMAN	M	352	ENSP00000340913:T352M;ENSP00000435574:T352M;ENSP00000353687:T352M	ENSP00000340913:T352M	T	-	2	0	TRPC6	100867570	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.034000	0.12225	-0.647000	0.05444	-0.156000	0.13503	ACG		0.438	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		26	61	0	0	0	1	0	26	61					A	101362360	G	A	101362360	3	1	43	1	0	0	0	0	1	0	0	0	16598	1145	40	1	1784	1	TRPC6	11	101362360	Missense_Mutation	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08	36842923	101362360	33644156	38	4051										
KRT76	51350	broad.mit.edu	37	chr12	53162588	53162588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	cagacttgtagccacttcctCcagaagtctggatgctgcca	9	13	1	2			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr12:53162588C>A	ENST00000332411.2	-	9	1879	c.1826G>T	c.(1825-1827)gGa>gTa	p.G609V		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	609	Tail.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCACTTCCTCCAGAAGTCTG	0.582																																						ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1825-1827)gGa>gTa		keratin 76							92	91	92					12																	53162588		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53162588C>A	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1826G>T	12.37:g.53162588C>A	ENSP00000330101:p.Gly609Val		Somatic					p.G609V	NM_015848.4	NP_056932.2	WXS	Illumina GAIIx	Phase_I	Q01546	K22O_HUMAN			9	1879	-			609			Tail.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.1826G>T	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	C	7.135	0.580759	0.13686	.	.	ENSG00000185069	ENST00000332411	D	0.91945	-2.94	4.81	1.8	0.24995	.	0.403035	0.18312	N	0.145093	T	0.78811	0.4342	N	0.08118	0	0.28306	N	0.922896	B	0.06786	0.001	B	0.06405	0.002	T	0.63010	-0.6732	10	0.08381	T	0.77	.	8.4921	0.33106	0.2957:0.3846:0.3197:0.0	.	609	Q01546	K22O_HUMAN	V	609	ENSP00000330101:G609V	ENSP00000330101:G609V	G	-	2	0	KRT76	51448855	0.000000	0.05858	0.979000	0.43373	0.598000	0.36846	-0.453000	0.06778	0.127000	0.18452	0.563000	0.77884	GGA		0.582	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		15	95	1	0	4.7546e-09	1	5.40836e-09	15	95					A	53162588	C	A	53162588	3	1	43	1	0	0	0	0	1	0	0	0	8498	855	30	2	94	2	KRT76	12	53162588	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08		53162588	80689307	39	4052										
NACA	4666	broad.mit.edu	37	chr12	57111096	57111096	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ttgggggagagaggaatcacTgctggggaagtggggtcccc	19	7	1	1			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr12:57111096T>C	ENST00000454682.1	-	3	4499	c.4218A>G	c.(4216-4218)gcA>gcG	p.A1406A	NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1406	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						GAGGAATCACTGCTGGGGAAG	0.597			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.(4216-4218)gcA>gcG		nascent polypeptide-associated complex alpha subunit							20	21	21					12																	57111096		1566	3581	5147	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111096T>C	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.4218A>G	12.37:g.57111096T>C			Somatic				NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron	p.A1406A	NM_001113203.2	NP_001106674.2	WXS	Illumina GAIIx	Phase_I	Q13765	NACA_HUMAN			3	4499	-			0						Silent	SNP	ENST00000454682.1	37	c.4218A>G																																																																																					0.597	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		12	26	0	0	0	1	0	12	26					C	57111096	T	C	57111096	2	2	43	1	0	0	0	0	0	0	0	1	10142	1567	55	4		4	NACA	12	57111096	Silent	SNP	T	TCGA-NA-A4R0-01A-11D-A28R-08	3948508	57111096	76740799	40	4053										
MARS	4141	broad.mit.edu	37	chr12	57882857	57882857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	cctgtcttgcagctggatagCggcaactacctcttctccac	8	15	3	0	rs540781909		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr12:57882857C>T	ENST00000262027.5	+	2	299	c.165C>T	c.(163-165)agC>agT	p.S55S	ARHGAP9_ENST00000550288.1_5'Flank|ARHGAP9_ENST00000393797.2_5'Flank|MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_5'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	55					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)	AGCTGGATAGCGGCAACTACC	0.483																																						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.(163-165)agC>agT		methionyl-tRNA synthetase	L-Methionine(DB00134)						137	115	122					12																	57882857		2203	4300	6503	SO:0001819	synonymous_variant	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57882857C>T	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.165C>T	12.37:g.57882857C>T			Somatic				MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_5'UTR	p.S55S	NM_004990.3	NP_004981.2	WXS	Illumina GAIIx	Phase_I	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		2	299	+			55					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	ENST00000262027.5	37	c.165C>T	CCDS8942.1																																																																																				0.483	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		11	78	0	0	0	1	0	11	78					T	57882857	C	T	57882857	2	4	43	1	0	0	0	0	0	0	0	1	9325	767	27	1		1	MARS	12	57882857	Silent	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	771761	57882857	75969038	41	4054										
PXN	5829	broad.mit.edu	37	chr12	120652778	120652778	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	acgaagtgctcggggtgccaCgtcttccccatggcggtcac	13	14	2	0			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr12:120652778C>T	ENST00000228307.7	-	9	1269	c.1128G>A	c.(1126-1128)acG>acA	p.T376T	PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000458477.2_Silent_p.T209T|PXN_ENST00000397506.3_Silent_p.T188T|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000536957.1_Silent_p.T374T|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000424649.2_Silent_p.T342T|PXN_ENST00000267257.7_Silent_p.T390T	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	376	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGGGTGCCACGTCTTCCCCA	0.642																																						ENST00000397506.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(562-564)acG>acA		paxillin							73	82	79					12																	120652778		2107	4204	6311	SO:0001819	synonymous_variant	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120652778C>T	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1128G>A	12.37:g.120652778C>T			Somatic				PXN_ENST00000424649.2_Silent_p.T342T|PXN_ENST00000228307.7_Silent_p.T376T|PXN_ENST00000267257.7_Silent_p.T390T|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000536957.1_Silent_p.T374T|PXN_ENST00000458477.2_Silent_p.T209T	p.T188T			WXS	Illumina GAIIx	Phase_I	P49023	PAXI_HUMAN			6	1617	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		376					B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	ENST00000228307.7	37	c.564G>A	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.346993	0.24426	.	.	ENSG00000089159	ENST00000550795	.	.	.	5.18	-1.41	0.08941	.	.	.	.	.	T	0.38772	0.1053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32534	-0.9903	4	.	.	.	.	0.4263	0.00464	0.2058:0.2779:0.2167:0.2995	.	.	.	.	H	125	.	.	R	-	2	0	PXN	119137161	0.462000	0.25791	1.000000	0.80357	0.983000	0.72400	-0.266000	0.08631	0.079000	0.16929	0.551000	0.68910	CGT		0.642	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		5	29	0	0	0	1	0	5	29					T	120652778	C	T	120652778	2	4	43	1	0	0	0	0	0	0	0	1	12867	523	19	1		1	PXN	12	120652778	Silent	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	62769921	120652778	13199117	42	4055										
FANCM	57697	broad.mit.edu	37	chr14	45636162	45636162	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	tgtttttacagatttataatCagagtcagtccaacaaaaga	6	6	2	3			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr14:45636162C>A	ENST00000267430.5	+	11	1883	c.1798C>A	c.(1798-1800)Cag>Aag	p.Q600K	FANCM_ENST00000542564.2_Missense_Mutation_p.Q574K|FANCM_ENST00000556036.1_Missense_Mutation_p.Q600K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	600	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						GATTTATAATCAGAGTCAGTC	0.279								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.(1798-1800)Cag>Aag	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							60	69	66					14																	45636162		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.chr14:45636162C>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1798C>A	14.37:g.45636162C>A	ENSP00000267430:p.Gln600Lys		Somatic				FANCM_ENST00000556036.1_Missense_Mutation_p.Q600K|FANCM_ENST00000542564.2_Missense_Mutation_p.Q574K	p.Q600K	NM_020937.2	NP_065988.1	WXS	Illumina GAIIx	Phase_I	Q8IYD8	FANCM_HUMAN			11	1883	+			600			Helicase C-terminal.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.1798C>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254745	0.39896	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	T;T;T;T	0.11604	2.76;2.76;2.77;3.63	5.54	5.54	0.83059	Helicase, C-terminal (1);	0.190231	0.47455	D	0.000234	T	0.09291	0.0229	N	0.16862	0.45	0.47584	D	0.999466	B;B;B	0.24823	0.112;0.112;0.007	B;B;B	0.19148	0.024;0.024;0.01	T	0.23084	-1.0198	10	0.44086	T	0.13	.	19.5083	0.95130	0.0:1.0:0.0:0.0	.	574;600;600	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	K	600;600;574;116	ENSP00000450596:Q600K;ENSP00000267430:Q600K;ENSP00000442493:Q574K;ENSP00000452033:Q116K	ENSP00000267430:Q600K	Q	+	1	0	FANCM	44705912	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.657000	0.74402	2.778000	0.95560	0.558000	0.71614	CAG		0.279	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		13	41	1	0	4.3838e-07	1	4.86495e-07	13	41					A	45636162	C	A	45636162	3	1	43	1	0	0	0	0	1	0	0	0	5679	827	29	2	1840	2	FANCM	14	45636162	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08		45636162	61713378	43	4056										
NDN	4692	broad.mit.edu	37	chr15	23931765	23931765	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	tctctggcgccgcggcccttCacgtagatgaggctcaggat	13	13	3	2			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr15:23931765C>G	ENST00000331837.4	-	1	685	c.600G>C	c.(598-600)gtG>gtC	p.V200V		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	200	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		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;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGCGGCCCTTCACGTAGATGA	0.662									Prader-Willi syndrome																													ENST00000331837.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(598-600)gtG>gtC		necdin, melanoma antigen (MAGE) family member							25	25	25					15																	23931765		2196	4291	6487	SO:0001819	synonymous_variant	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931765C>G	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.600G>C	15.37:g.23931765C>G			Somatic					p.V200V	NM_002487.2	NP_002478.1	WXS	Illumina GAIIx	Phase_I	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	685	-		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)	200			MAGE.		B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.600G>C	CCDS10014.1																																																																																				0.662	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		12	46	0	0	0	1	0	12	46					G	23931765	C	G	23931765	2	3	43	1	0	0	0	0	0	0	0	1	10256	813	29	2		2	NDN	15	23931765	Silent	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08		23931765	78599627	44	4057										
C15orf2	23742	broad.mit.edu	37	chr15	24921416	24921416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ccttcaccacgtgagccggcGgtcaaggccaggaagcccat	12	15	2	1			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr15:24921416G>A	ENST00000329468.2	+	1	876	c.402G>A	c.(400-402)gcG>gcA	p.A134A		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	134					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GTGAGCCGGCGGTCAAGGCCA	0.632																																						ENST00000329468.2																			0											c.(400-402)gcG>gcA		nuclear pore associated protein 1							44	38	40					15																	24921416		2202	4299	6501	SO:0001819	synonymous_variant	23742							g.chr15:24921416G>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.402G>A	15.37:g.24921416G>A			Somatic					p.A134A	NM_018958.2	NP_061831.2	WXS	Illumina GAIIx	Phase_I					1	876	+									Silent	SNP	ENST00000329468.2	37	c.402G>A	CCDS10015.1																																																																																				0.632	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		8	57	0	0	0	1	0	8	57					A	24921416	G	A	24921416	2	1	43	1	0	0	0	0	0	0	0	1	1786	1103	39	1		1	C15orf2	15	24921416	Silent	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08	989651	24921416	77609976	45	4058										
NEDD4	4734	broad.mit.edu	37	chr15	56209012	56209012	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	cttctggctgcaaagtgcaaTcgtaagctttgtgccatttg	10	9	1	0			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr15:56209012T>A	ENST00000508342.1	-	1	317	c.18A>T	c.(16-18)cgA>cgT	p.R6R	NEDD4_ENST00000506154.1_Silent_p.R6R|NEDD4_ENST00000338963.2_Silent_p.R6R|NEDD4_ENST00000435532.3_Intron	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	6					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)		CAAAGTGCAATCGTAAGCTTT	0.443																																						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.(16-18)cgA>cgT		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							127	128	128					15																	56209012		2193	4290	6483	SO:0001819	synonymous_variant	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.chr15:56209012T>A	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.18A>T	15.37:g.56209012T>A			Somatic				NEDD4_ENST00000506154.1_Silent_p.R6R|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Silent_p.R6R	p.R6R			WXS	Illumina GAIIx	Phase_I	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	1	317	-			6					A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37	c.18A>T																																																																																					0.443	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		11	101	0	0	0	1	0	11	101					A	56209012	T	A	56209012	2	1	43	1	0	0	0	0	0	0	0	1	10319	1422	50	4		4	NEDD4	15	56209012	Silent	SNP	T	TCGA-NA-A4R0-01A-11D-A28R-08	31287596	56209012	46322380	46	4059										
GLCE	26035	broad.mit.edu	37	chr15	69553589	69553589	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	aaaaacaagcctaatgactgGactgtgccaaagggctgctt	10	9	0	1			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr15:69553589G>C	ENST00000261858.2	+	4	978	c.750G>C	c.(748-750)tgG>tgC	p.W250C	GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Missense_Mutation_p.W186C	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	250					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CTAATGACTGGACTGTGCCAA	0.393																																						ENST00000261858.2																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(748-750)tgG>tgC		glucuronic acid epimerase							163	156	158					15																	69553589		2200	4298	6498	SO:0001583	missense	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69553589G>C	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.750G>C	15.37:g.69553589G>C	ENSP00000261858:p.Trp250Cys		Somatic				GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Missense_Mutation_p.W186C	p.W250C	NM_015554.1	NP_056369.1	WXS	Illumina GAIIx	Phase_I	O94923	GLCE_HUMAN			4	978	+			250					Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	c.750G>C	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983556	0.74474	.	.	ENSG00000138604	ENST00000261858	T	0.35236	1.32	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.64746	0.2626	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.67356	-0.5691	10	0.87932	D	0	-16.9933	18.7779	0.91918	0.0:0.0:1.0:0.0	.	250	O94923	GLCE_HUMAN	C	250	ENSP00000261858:W250C	ENSP00000261858:W250C	W	+	3	0	GLCE	67340643	1.000000	0.71417	0.972000	0.41901	0.917000	0.54804	9.690000	0.98676	2.773000	0.95371	0.591000	0.81541	TGG		0.393	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		17	88	0	0	0	1	0	17	88					C	69553589	G	C	69553589	3	2	43	1	0	0	0	0	1	0	0	0	6440	1183	41	2	756	2	GLCE	15	69553589	Missense_Mutation	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08	13344577	69553589	32977803	47	4060										
DCTN5	84516	broad.mit.edu	37	chr16	23654275	23654275	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ttttccgttgttttcttttaGgcatctgggaacaaagtcag	9	7	3	0			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr16:23654275G>C	ENST00000300087.2	+	2	199		c.e2-1		PALB2_ENST00000261584.4_5'Flank|DCTN5_ENST00000563998.1_Splice_Site|DCTN5_ENST00000568272.1_Splice_Site|DCTN5_ENST00000568589.1_Splice_Site	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)				endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		TTTTCTTTTAGGCATCTGGGA	0.443																																						ENST00000300087.2																			0				endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10						c.e2-1		dynactin 5 (p25)							105	105	105					16																	23654275		2197	4300	6497	SO:0001630	splice_region_variant	84516					centrosome	transferase activity	g.chr16:23654275G>C		CCDS10615.1, CCDS58435.1, CCDS58436.1	16p12.1	2008-02-05			ENSG00000166847	ENSG00000166847			24594	protein-coding gene	gene with protein product		612962				10525537, 15043994	Standard	NM_032486		Approved	MGC3248, p25	uc002dly.2	Q9BTE1	OTTHUMG00000131610	ENST00000300087.2:c.49-1G>C	16.37:g.23654275G>C			Somatic				DCTN5_ENST00000568589.1_Splice_Site|DCTN5_ENST00000568272.1_Splice_Site|DCTN5_ENST00000563998.1_Splice_Site		NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	WXS	Illumina GAIIx	Phase_I	Q9BTE1	DCTN5_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	2	199	+								A8K9X8|H3BN51|H3BQA4	Splice_Site	SNP	ENST00000300087.2	37		CCDS10615.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790646	0.70452	.	.	ENSG00000166847	ENST00000300087	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2059	0.82131	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCTN5	23561776	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.264000	0.89866	2.421000	0.82119	0.549000	0.68633	.		0.443	DCTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254497.1	NM_032486	Intron	15	78	0	0	0	1	0	15	78					C	23654275	G	C	23654275	5	2	43	1	0	0	0	0	0	0	1	0	4312	1014	35	5	54	5	DCTN5	16	23654275	Splice_Site	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08		23654275	66700478	48	4061										
KIFC3	3801	broad.mit.edu	37	chr16	57795055	57795055	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	tcaggttggtgaactcggtcGtgcgattagtgtggccaaac	14	8	1	1			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr16:57795055G>C	ENST00000379655.4	-	15	2158	c.1901C>G	c.(1900-1902)aCg>aGg	p.T634R	KIFC3_ENST00000445690.2_Missense_Mutation_p.T634R|KIFC3_ENST00000541240.1_Missense_Mutation_p.T656R|KIFC3_ENST00000543930.1_Missense_Mutation_p.T492R|KIFC3_ENST00000562903.1_Missense_Mutation_p.T495R|KIFC3_ENST00000421376.2_Missense_Mutation_p.T495R|KIFC3_ENST00000465878.2_Missense_Mutation_p.T495R|KIFC3_ENST00000539578.1_Missense_Mutation_p.T576R|KIFC3_ENST00000540079.2_Missense_Mutation_p.T532R	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	634	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)				GAACTCGGTCGTGCGATTAGT	0.632																																						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.(1900-1902)aCg>aGg		kinesin family member C3							132	120	124					16																	57795055		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.chr16:57795055G>C	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.1901C>G	16.37:g.57795055G>C	ENSP00000368976:p.Thr634Arg		Somatic				KIFC3_ENST00000562903.1_Missense_Mutation_p.T495R|KIFC3_ENST00000465878.2_Missense_Mutation_p.T495R|KIFC3_ENST00000421376.2_Missense_Mutation_p.T495R|KIFC3_ENST00000539578.1_Missense_Mutation_p.T576R|KIFC3_ENST00000543930.1_Missense_Mutation_p.T492R|KIFC3_ENST00000541240.1_Missense_Mutation_p.T656R|KIFC3_ENST00000445690.2_Missense_Mutation_p.T634R|KIFC3_ENST00000540079.2_Missense_Mutation_p.T532R	p.T634R	NM_005550.3	NP_005541.3	WXS	Illumina GAIIx	Phase_I	Q9BVG8	KIFC3_HUMAN			15	2158	-		all_neural(199;0.224)	634			Kinesin-motor.		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.1901C>G	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464021	0.63513	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.11	5.11	0.69529	Kinesin, motor domain (4);	0.105878	0.64402	D	0.000007	T	0.71779	0.3380	L	0.31926	0.97	0.48830	D	0.999715	P;P;P;B;P;P	0.45126	0.851;0.824;0.619;0.029;0.619;0.823	P;B;B;B;B;P	0.50825	0.651;0.395;0.205;0.031;0.407;0.645	T	0.73658	-0.3913	10	0.56958	D	0.05	.	11.0089	0.47651	0.0959:0.0:0.9041:0.0	.	656;576;492;532;634;495	B7Z484;F5H4I9;B7Z896;F5H3M2;Q9BVG8;A8K6S2	.;.;.;.;KIFC3_HUMAN;.	R	634;634;495;656;532;492;576	ENSP00000368976:T634R;ENSP00000401696:T634R;ENSP00000396399:T495R;ENSP00000442008:T656R;ENSP00000438805:T532R;ENSP00000444012:T492R;ENSP00000444884:T576R	ENSP00000368976:T634R	T	-	2	0	KIFC3	56352556	0.999000	0.42202	0.965000	0.40720	0.257000	0.26127	3.907000	0.56348	2.402000	0.81655	0.205000	0.17691	ACG		0.632	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		11	85	0	0	0	1	0	11	85					C	57795055	G	C	57795055	3	2	43	1	0	0	0	0	1	0	0	0	8323	1145	40	5	629	5	KIFC3	16	57795055	Missense_Mutation	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08	34140780	57795055	32559698	49	4062										
ANKRD11	29123	broad.mit.edu	37	chr16	89351378	89351378	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	gcggcagagctcccgtgagaCgaggtggaggaggcagagag	20	8	0	3	rs367826651		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr16:89351378C>A	ENST00000301030.4	-	9	2032	c.1572G>T	c.(1570-1572)tcG>tcT	p.S524S	ANKRD11_ENST00000378330.2_Silent_p.S524S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	524	Ser-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)		TCCCGTGAGACGAGGTGGAGG	0.622																																						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.(1570-1572)tcG>tcT		ankyrin repeat domain 11							41	46	44					16																	89351378		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89351378C>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.1572G>T	16.37:g.89351378C>A			Somatic				ANKRD11_ENST00000378330.2_Silent_p.S524S	p.S524S	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	2032	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	524			Ser-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.1572G>T	CCDS32513.1																																																																																				0.622	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		4	68	1	0	0.000602214	1	0.000622744	4	68					A	89351378	C	A	89351378	2	1	43	1	0	0	0	0	0	0	0	1	639	523	19	5		5	ANKRD11	16	89351378	Silent	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	31556323	89351378	1003375	50	4063										
TP53	7157	broad.mit.edu	37	chr17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	gcaaatttccttccactcggAtaagatgctgaggaggggcc	12	10	0	2			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T	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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(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)	TTCCACTCGGATAAGATGCTG	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"		134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	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.(583-585)aTc>aCc	Other conserved DNA damage response genes	tumor protein p53							100	89	93					17																	7578265		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.chr17:7578265A>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.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr	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.I195T|TP53_ENST00000269305.4_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron	p.I195T	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	716	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	195		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (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.584T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	39	0	0	0	1	0	12	39					G	7578265	A	G	7578265	3	3	43	1	0	0	0	0	1	0	0	0	16396	333	12	4	710	4	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-NA-A4R0-01A-11D-A28R-08		7578265	73616945	51	4064										
BZRAP1	9256	broad.mit.edu	37	chr17	56386441	56386441	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	gctgcttccaccaactaatcCaggcatgtcttccaggcagt	8	14	1	0			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr17:56386441C>T	ENST00000343736.4	-	22	4355	c.4192G>A	c.(4192-4194)Gga>Aga	p.G1398R	BZRAP1_ENST00000355701.3_Missense_Mutation_p.G1398R|BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1338R			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1398						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAACTAATCCAGGCATGTCT	0.652																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(4192-4194)Gga>Aga		benzodiazapine receptor (peripheral) associated protein 1							78	88	84					17																	56386441		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56386441C>T	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.4192G>A	17.37:g.56386441C>T	ENSP00000345824:p.Gly1398Arg		Somatic				BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1338R|BZRAP1_ENST00000343736.4_Missense_Mutation_p.G1398R	p.G1398R	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	WXS	Illumina GAIIx	Phase_I	O95153	RIMB1_HUMAN			22	5062	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1398					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.4192G>A	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833153	0.50951	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04275	3.66;3.66;3.67	5.31	3.19	0.36642	.	0.237237	0.38720	N	0.001599	T	0.07863	0.0197	L	0.27053	0.805	0.09310	N	1	B;D;D	0.89917	0.022;1.0;1.0	B;D;D	0.97110	0.008;1.0;0.999	T	0.33497	-0.9866	10	0.37606	T	0.19	.	2.5437	0.04732	0.2043:0.5167:0.1718:0.1073	.	1398;1338;1398	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	R	1398;1398;1338	ENSP00000347929:G1398R;ENSP00000345824:G1398R;ENSP00000268893:G1338R	ENSP00000268893:G1338R	G	-	1	0	BZRAP1	53741440	0.005000	0.15991	0.321000	0.25320	0.905000	0.53344	0.539000	0.23175	2.487000	0.83934	0.563000	0.77884	GGA		0.652	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		46	104	0	0	0	1	0	46	104					T	56386441	C	T	56386441	3	4	43	1	0	0	0	0	1	0	0	0	1579	603	21	3	1421	3	BZRAP1	17	56386441	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	48808176	56386441	24808769	52	4065										
AXIN2	8313	broad.mit.edu	37	chr17	63533589	63533591	+	In_Frame_Del	DEL	TGG	TGG	-													0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ccttggtcttggggacggcaTggtggtggatgtagtggtgg							TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr17:63533589_63533591delTGG	ENST00000375702.5	-	5	1671_1673	c.1563_1565delCCA	c.(1561-1566)caccat>cat	p.521_522HH>H	AXIN2_ENST00000307078.5_In_Frame_Del_p.521_522HH>H			Q9Y2T1	AXIN2_HUMAN	axin 2	521					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						GGGGACGGCATGGTGGTGGATGT	0.655									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.(1561-1566)cat>ca		axin 2																																				SO:0001651	inframe_deletion	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.chr17:63533589_63533591delTGG	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.1563_1565delCCA	17.37:g.63533595_63533597delTGG	ENSP00000364854:p.His522del		Somatic				AXIN2_ENST00000375702.5_In_Frame_Del_p.HH521del	p.HH521del	NM_004655.3	NP_004646.3	WXS	Illumina GAIIx	Phase_I	Q9Y2T1	AXIN2_HUMAN			6	1876_1878	-			521					Q3MJ88|Q9H3M6|Q9UH84	In_Frame_Del	DEL	ENST00000375702.5	37	c.1563_1565delCCA																																																																																					0.655	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		7	94						7	94	---	---	---	---	-	63533591	TGG	-	63533589	7	5	43	1	0	1	0	1	0	0	0	0	1237	1464	51	0	990	0	AXIN2	17	63533589	In_Frame_Del	DEL	TGG	TCGA-NA-A4R0-01A-11D-A28R-08	7147148	63533589	17661621	53	4066										
SMAD4	4089	broad.mit.edu	37	chr18	48573424	48573425	+	Frame_Shift_Del	DEL	AT	AT	-													0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	aaaacttgaacaaatggacaAtatgtctattacgaatacac							TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr18:48573424_48573425delAT	ENST00000342988.3	+	2	546_547	c.8_9delAT	c.(7-9)aatfs	p.N3fs	SMAD4_ENST00000588745.1_Frame_Shift_Del_p.N3fs|SMAD4_ENST00000452201.2_Frame_Shift_Del_p.N3fs|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.N3fs|RP11-729L2.2_ENST00000588256.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	3					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.?(5)		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)		CAAATGGACAATATGTCTATTA	0.356																																						ENST00000342988.3																			41	Whole gene deletion(36)|Unknown(5)	p.0?(36)|p.?(5)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|oesophagus(1)|NS(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.(7-9)afs		SMAD family member 4																																				SO:0001589	frameshift_variant	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.chr18:48573424_48573425delAT	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.8_9delAT	18.37:g.48573426_48573427delAT	ENSP00000341551:p.Asn3fs		Somatic				RP11-729L2.2_ENST00000588256.1_3'UTR|SMAD4_ENST00000452201.2_Frame_Shift_Del_p.N3fs|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.N3fs|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Frame_Shift_Del_p.N3fs	p.N3fs	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)	2	546_547	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	3					A8K405	Frame_Shift_Del	DEL	ENST00000342988.3	37	c.8_9delAT	CCDS11950.1																																																																																				0.356	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		11	20						11	20	---	---	---	---	-	48573425	AT	-	48573424	7	5	43	1	0	1	0	1	0	0	0	0	14775	101	4	0	10	0	SMAD4	18	48573424	Frame_Shift_Del	DEL	AT	TCGA-NA-A4R0-01A-11D-A28R-08		48573424	29503824	54	4067										
CILP2	148113	broad.mit.edu	37	chr19	19654969	19654969	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	tggacgctgtccgggtcttgCcttttgatcctcgaggtgcc	13	12	1	1			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:19654969C>G	ENST00000291495.5	+	8	1700	c.1615C>G	c.(1615-1617)Cct>Gct	p.P539A	CILP2_ENST00000586018.1_Missense_Mutation_p.P545A	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	539						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.P539S(1)		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						CCGGGTCTTGCCTTTTGATCC	0.602																																						ENST00000586018.1																			1	Substitution - Missense(1)	p.P539S(1)	lung(1)	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.(1633-1635)Cct>Gct		cartilage intermediate layer protein 2							47	50	49					19																	19654969		2202	4300	6502	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19654969C>G	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.1615C>G	19.37:g.19654969C>G	ENSP00000291495:p.Pro539Ala		Somatic				CILP2_ENST00000291495.4_Missense_Mutation_p.P539A	p.P545A			WXS	Illumina GAIIx	Phase_I	Q8IUL8	CILP2_HUMAN			8	1735	+			539					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1633C>G	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284777	0.40394	.	.	ENSG00000160161	ENST00000291495	T	0.48201	0.82	3.77	3.77	0.43336	Carbohydrate-binding-like fold (1);	0.141721	0.46442	D	0.000281	T	0.63546	0.2520	M	0.64404	1.975	0.31863	N	0.620709	D;D	0.89917	1.0;0.999	D;D	0.72338	0.977;0.962	T	0.71119	-0.4685	10	0.62326	D	0.03	-12.2858	13.1452	0.59456	0.0:1.0:0.0:0.0	.	539;539	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	A	539	ENSP00000291495:P539A	ENSP00000291495:P539A	P	+	1	0	CILP2	19515969	1.000000	0.71417	0.989000	0.46669	0.487000	0.33371	3.112000	0.50368	1.662000	0.50781	0.430000	0.28490	CCT		0.602	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		16	90	0	0	0	1	0	16	90					G	19654969	C	G	19654969	3	3	43	1	0	0	0	0	1	0	0	0	3432	739	26	5	1645	5	CILP2	19	19654969	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08		19654969	39474014	55	4068										
C19orf46	163183	broad.mit.edu	37	chr19	36499487	36499487	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ctctccggacgcggggcagaCggtgcatccaacaatgtccg	13	14	1	1	rs200926652		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:36499487C>G	ENST00000324444.3	-	1	208	c.97G>C	c.(97-99)Gtc>Ctc	p.V33L	ALKBH6_ENST00000495116.2_5'Flank|AC002116.8_ENST00000473572.2_RNA|SYNE4_ENST00000340477.5_Missense_Mutation_p.V33L	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	33					establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)											GCGGGGCAGACGGTGCATCCA	0.652																																						ENST00000324444.3																			0											c.(97-99)Gtc>Ctc		spectrin repeat containing, nuclear envelope family member 4							67	73	71					19																	36499487		1986	4161	6147	SO:0001583	missense	163183							g.chr19:36499487C>G	BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"chromosome 19 open reading frame 46", "deafness, autosomal recessive 76"	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.97G>C	19.37:g.36499487C>G	ENSP00000316130:p.Val33Leu		Somatic				SYNE4_ENST00000340477.5_Missense_Mutation_p.V33L	p.V33L	NM_001039876.1	NP_001034965.1	WXS	Illumina GAIIx	Phase_I					1	208	-								A8MRS0|A8MYE3|Q7Z7L3	Missense_Mutation	SNP	ENST00000324444.3	37	c.97G>C	CCDS42553.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.738|6.738	0.504889|0.504889	0.12822|0.12822	.|.	.|.	ENSG00000181392|ENSG00000181392	ENST00000397428|ENST00000340477;ENST00000324444;ENST00000490730	.|T;T;T	.|0.53206	.|1.34;1.35;0.63	3.93|3.93	-2.84|-2.84	0.05751|0.05751	.|.	.|1.952780	.|0.01823	.|N	.|0.034169	T|T	0.32734|0.32734	0.0839|0.0839	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.28419	.|0.001;0.211;0.0	.|B;B;B	.|0.25506	.|0.002;0.061;0.001	T|T	0.25537|0.25537	-1.0129|-1.0129	6|10	0.72032|0.54805	D|T	0.01|0.06	-21.4633|-21.4633	6.355|6.355	0.21397|0.21397	0.0:0.5269:0.1721:0.301|0.0:0.5269:0.1721:0.301	.|.	.|33;33;33	.|Q8N205-2;D6RAE3;Q8N205	.|.;.;SYNE4_HUMAN	P|L	3|33	.|ENSP00000343152:V33L;ENSP00000316130:V33L;ENSP00000422716:V33L	ENSP00000380572:R3P|ENSP00000316130:V33L	R|V	-|-	2|1	0|0	C19orf46|C19orf46	41191327|41191327	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.355000|-1.355000	0.02612|0.02612	-0.652000|-0.652000	0.05408|0.05408	-0.345000|-0.345000	0.07892|0.07892	CGT|GTC		0.652	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109525.3	NM_001039876		10	166	0	0	0	1	0	10	166					G	36499487	C	G	36499487	3	3	43	1	0	0	0	0	1	0	0	0	1931	536	19	5	1149	5	C19orf46	19	36499487	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	16844518	36499487	22629496	56	4069										
ZNF567	163081	broad.mit.edu	37	chr19	37210154	37210154	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ctgagtactaaacaagagacTactcatcctgaagtcaaatc	6	10	2	3			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:37210154T>C	ENST00000536254.2	+	6	750	c.528T>C	c.(526-528)acT>acC	p.T176T	ZNF567_ENST00000392163.2_Silent_p.T145T|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000585696.1_Silent_p.T145T|ZNF567_ENST00000360729.4_Silent_p.T145T|ZNF567_ENST00000588311.1_Silent_p.T145T			Q8N184	ZN567_HUMAN	zinc finger protein 567	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AACAAGAGACTACTCATCCTG	0.368																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(433-435)acT>acC		zinc finger protein 567							55	53	54					19																	37210154		2203	4299	6502	SO:0001819	synonymous_variant	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210154T>C	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"Zinc fingers, C2H2-type", "-"	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.528T>C	19.37:g.37210154T>C			Somatic				ZNF567_ENST00000588311.1_Silent_p.T145T|ZNF567_ENST00000536254.2_Silent_p.T176T|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Silent_p.T145T|ZNF567_ENST00000360729.4_Silent_p.T145T	p.T145T			WXS	Illumina GAIIx	Phase_I	Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	1665	+	Esophageal squamous(110;0.198)		176					B3KX49|Q6N044	Silent	SNP	ENST00000536254.2	37	c.435T>C																																																																																					0.368	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		12	46	0	0	0	1	0	12	46					C	37210154	T	C	37210154	2	2	43	1	0	0	0	0	0	0	0	1	18013	1509	53	4		4	ZNF567	19	37210154	Silent	SNP	T	TCGA-NA-A4R0-01A-11D-A28R-08	710667	37210154	21918829	57	4070										
ZNF383	163087	broad.mit.edu	37	chr19	37734477	37734477	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	atctgagaattcacactggtGaaaagccctataactgtaag	8	8	2	2			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:37734477G>A	ENST00000589413.1	+	8	1922	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	ZNF383_ENST00000352998.3_Missense_Mutation_p.E447K|ZNF383_ENST00000590503.1_Missense_Mutation_p.E447K			Q8NA42	ZN383_HUMAN	zinc finger protein 383	447					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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACACTGGTGAAAAGCCCTA	0.348																																						ENST00000589413.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15						c.(1339-1341)Gaa>Aaa		zinc finger protein 383							78	82	80					19																	37734477		2203	4300	6503	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37734477G>A	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"Zinc fingers, C2H2-type", "-"	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1339G>A	19.37:g.37734477G>A	ENSP00000464871:p.Glu447Lys		Somatic				ZNF383_ENST00000352998.3_Missense_Mutation_p.E447K|ZNF383_ENST00000590503.1_Missense_Mutation_p.E447K	p.E447K			WXS	Illumina GAIIx	Phase_I	Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1922	+			447					Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.1339G>A	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.063006	0.36373	.	.	ENSG00000188283	ENST00000352998	T	0.24350	1.86	3.62	3.62	0.41486	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25531	0.0621	L	0.38733	1.17	0.28888	N	0.893987	P	0.34662	0.462	B	0.39258	0.295	T	0.16129	-1.0413	9	0.52906	T	0.07	.	13.1655	0.59569	0.0:0.0:1.0:0.0	.	447	Q8NA42	ZN383_HUMAN	K	447	ENSP00000340132:E447K	ENSP00000340132:E447K	E	+	1	0	ZNF383	42426317	0.361000	0.24972	0.767000	0.31495	0.550000	0.35303	0.890000	0.28295	2.017000	0.59298	0.563000	0.77884	GAA		0.348	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		66	54	0	0	0	1	0	66	54					A	37734477	G	A	37734477	3	1	43	1	0	0	0	0	1	0	0	0	17889	1291	45	3	1353	3	ZNF383	19	37734477	Missense_Mutation	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08	524323	37734477	21394506	58	4071										
SUPT5H	6829	broad.mit.edu	37	chr19	39955456	39955456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	agcccctgcagatcaagtcaGtagtggcaccagagcatgtg	12	11	2	2			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:39955456G>A	ENST00000599117.1	+	12	1010	c.643G>A	c.(643-645)Gta>Ata	p.V215I	SUPT5H_ENST00000402194.2_Missense_Mutation_p.V211I|SUPT5H_ENST00000598725.1_Missense_Mutation_p.V215I|SUPT5H_ENST00000359191.6_Missense_Mutation_p.V211I|SUPT5H_ENST00000432763.2_Missense_Mutation_p.V215I			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	215	Interaction with SUPT4H1.				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)			GATCAAGTCAGTAGTGGCACC	0.572																																						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.(643-645)Gta>Ata		suppressor of Ty 5 homolog (S. cerevisiae)							88	83	84					19																	39955456		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.chr19:39955456G>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.643G>A	19.37:g.39955456G>A	ENSP00000470252:p.Val215Ile		Somatic				SUPT5H_ENST00000359191.6_Missense_Mutation_p.V211I|SUPT5H_ENST00000598725.1_Missense_Mutation_p.V215I|SUPT5H_ENST00000402194.2_Missense_Mutation_p.V211I|SUPT5H_ENST00000432763.2_Missense_Mutation_p.V215I	p.V215I			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)		12	1010	+	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)		215			Interaction with SUPT4H1.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.643G>A	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730063	0.69074	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.62	5.62	0.85841	Transcription antitermination protein, NusG, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	L	0.28400	0.85	0.80722	D	1	P;P	0.37083	0.526;0.581	B;P	0.45946	0.365;0.498	T	0.50162	-0.8860	8	.	.	.	-13.744	18.4325	0.90632	0.0:0.0:1.0:0.0	.	211;215	O00267-2;O00267	.;SPT5H_HUMAN	I	215;211;193;215	.	.	V	+	1	0	SUPT5H	44647296	1.000000	0.71417	0.910000	0.35882	0.989000	0.77384	9.653000	0.98506	2.645000	0.89757	0.655000	0.94253	GTA		0.572	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		7	181	0	0	0	1	0	7	181					A	39955456	G	A	39955456	3	1	43	1	0	0	0	0	1	0	0	0	15414	1029	36	3	681	3	SUPT5H	19	39955456	Missense_Mutation	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08	2220979	39955456	19173527	59	4072										
FCGBP	8857	broad.mit.edu	37	chr19	40374023	40374023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	gctgtgttcctggcacaccaCgactttacccacatggcacg	9	15	0	0	rs561293450	byFrequency	TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:40374023C>T	ENST00000221347.6	-	26	12062	c.12055G>A	c.(12055-12057)Gtg>Atg	p.V4019M	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4019	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGCACACCACGACTTTACCC	0.642													C|||	36	0.0071885	0.0121	0.0029	5008	,	,		23567	0.004		0.0119	False		,,,				2504	0.002					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.(12055-12057)Gtg>Atg		Fc fragment of IgG binding protein							13	14	13					19																	40374023		2141	4205	6346	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40374023C>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.12055G>A	19.37:g.40374023C>T	ENSP00000221347:p.Val4019Met		Somatic					p.V4019M	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)		26	12062	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4019			Cys-rich.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12055G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	6.436	0.448534	0.12223	.	.	ENSG00000090920	ENST00000221347	T	0.06608	3.28	2.99	-5.98	0.02220	von Willebrand factor, type C (1);	.	.	.	.	T	0.03520	0.0101	L	0.31476	0.935	0.09310	N	1	B	0.29766	0.256	B	0.14578	0.011	T	0.30060	-0.9991	9	0.34782	T	0.22	.	6.2908	0.21059	0.0:0.3427:0.2739:0.3834	.	4019	Q9Y6R7	FCGBP_HUMAN	M	4019	ENSP00000221347:V4019M	ENSP00000221347:V4019M	V	-	1	0	FCGBP	45065863	0.000000	0.05858	0.010000	0.14722	0.077000	0.17291	-1.245000	0.02899	-1.918000	0.01072	-0.680000	0.03767	GTG		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		4	24	0	0	0	1	0	4	24					T	40374023	C	T	40374023	3	4	43	1	0	0	0	0	1	0	0	0	5786	536	19	1	4206	1	FCGBP	19	40374023	Missense_Mutation	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08	418567	40374023	18754960	60	4073										
CYP2F1	1572	broad.mit.edu	37	chr19	41628015	41628015	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ctccccgggacttcatccagTgcttcctcaccaagatggca	8	16	2	1			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:41628015T>A	ENST00000331105.2	+	6	871	c.799T>A	c.(799-801)Tgc>Agc	p.C267S		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	267					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.C267R(2)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CTTCATCCAGTGCTTCCTCAC	0.572																																						ENST00000331105.2																			2	Substitution - Missense(2)	p.C267R(2)	liver(2)	central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(799-801)Tgc>Agc		cytochrome P450, family 2, subfamily F, polypeptide 1							49	47	48					19																	41628015		2055	4162	6217	SO:0001583	missense	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41628015T>A	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.799T>A	19.37:g.41628015T>A	ENSP00000333534:p.Cys267Ser		Somatic					p.C267S	NM_000774.3	NP_000765.2	WXS	Illumina GAIIx	Phase_I	P24903	CP2F1_HUMAN			6	871	+			267					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.799T>A	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	N	1.040	-0.678999	0.03378	.	.	ENSG00000197446	ENST00000331105	T	0.67345	-0.26	3.27	3.27	0.37495	.	0.107186	0.64402	U	0.000004	T	0.55481	0.1923	L	0.31845	0.965	0.28794	N	0.899131	P;B;B	0.40731	0.728;0.211;0.036	P;B;B	0.45998	0.5;0.11;0.028	T	0.48422	-0.9037	10	0.27785	T	0.31	.	5.6645	0.17687	0.2421:0.0:0.0:0.7578	.	53;267;267	B4DL83;Q32MN5;P24903	.;.;CP2F1_HUMAN	S	267	ENSP00000333534:C267S	ENSP00000333534:C267S	C	+	1	0	CYP2F1	46319855	0.000000	0.05858	0.779000	0.31741	0.025000	0.11179	0.093000	0.15086	1.345000	0.45676	0.335000	0.21663	TGC		0.572	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			15	18	0	0	0	1	0	15	18					A	41628015	T	A	41628015	3	1	43	1	0	0	0	0	1	0	0	0	4173	1696	59	4	817	4	CYP2F1	19	41628015	Missense_Mutation	SNP	T	TCGA-NA-A4R0-01A-11D-A28R-08	1253992	41628015	17500968	61	4074										
ARFGEF2	10564	broad.mit.edu	37	chr20	47605195	47605195	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	attgcaaccaaatctactaaGcagagtaaggtctaatggca	8	8	2	1			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr20:47605195G>A	ENST00000371917.4	+	18	2529	c.2529G>A	c.(2527-2529)aaG>aaA	p.K843K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	843					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)			AATCTACTAAGCAGAGTAAGG	0.323																																					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.(2527-2529)aaG>aaA		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							61	59	60					20																	47605195		2203	4298	6501	SO:0001819	synonymous_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47605195G>A	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.2529G>A	20.37:g.47605195G>A			Somatic					p.K843K	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)		18	2529	+			843					Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	c.2529G>A	CCDS13411.1																																																																																				0.323	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		14	64	0	0	0	1	0	14	64					A	47605195	G	A	47605195	2	1	43	1	0	0	0	0	0	0	0	1	853	962	34	3		3	ARFGEF2	20	47605195	Silent	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08		47605195	15420325	62	4075										
PHACTR3	116154	broad.mit.edu	37	chr20	58348375	58348375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	cctccagcatgaagagtgccGacccttccctccggggccag	11	17	0	2			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr20:58348375G>A	ENST00000371015.1	+	6	1260	c.793G>A	c.(793-795)Gac>Aac	p.D265N	PHACTR3_ENST00000395636.2_Missense_Mutation_p.D224N|PHACTR3_ENST00000541461.1_Missense_Mutation_p.D224N|PHACTR3_ENST00000361300.4_Missense_Mutation_p.D154N|PHACTR3_ENST00000355648.4_Missense_Mutation_p.D224N|PHACTR3_ENST00000395639.4_Missense_Mutation_p.D154N|PHACTR3_ENST00000359926.3_Missense_Mutation_p.D262N	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	265						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)			GAAGAGTGCCGACCCTTCCCT	0.627																																						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.(793-795)Gac>Aac		phosphatase and actin regulator 3							87	85	85					20																	58348375		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58348375G>A	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.793G>A	20.37:g.58348375G>A	ENSP00000360054:p.Asp265Asn		Somatic				PHACTR3_ENST00000541461.1_Missense_Mutation_p.D224N|PHACTR3_ENST00000359926.3_Missense_Mutation_p.D262N|PHACTR3_ENST00000355648.4_Missense_Mutation_p.D224N|PHACTR3_ENST00000395636.2_Missense_Mutation_p.D224N|PHACTR3_ENST00000361300.4_Missense_Mutation_p.D154N|PHACTR3_ENST00000395639.4_Missense_Mutation_p.D154N	p.D265N	NM_080672.3	NP_542403.1	WXS	Illumina GAIIx	Phase_I	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		6	1260	+	all_lung(29;0.00344)		265					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.793G>A	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	7.729	0.698739	0.15106	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.29142	1.98;1.99;1.58;1.99;1.99;1.99;1.58	5.13	5.13	0.70059	.	0.636018	0.17939	N	0.156920	T	0.22975	0.0555	L	0.36672	1.1	0.21933	N	0.999465	P;B;P	0.42993	0.683;0.414;0.797	B;B;B	0.30572	0.115;0.054;0.117	T	0.15694	-1.0428	10	0.31617	T	0.26	-9.9869	17.5855	0.87980	0.0:0.0:1.0:0.0	.	154;265;262	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	N	262;265;154;224;224;224;154	ENSP00000353002:D262N;ENSP00000360054:D265N;ENSP00000379001:D154N;ENSP00000442483:D224N;ENSP00000347866:D224N;ENSP00000378998:D224N;ENSP00000354555:D154N	ENSP00000347866:D224N	D	+	1	0	PHACTR3	57781770	1.000000	0.71417	0.470000	0.27216	0.009000	0.06853	5.552000	0.67281	2.389000	0.81357	0.655000	0.94253	GAC		0.627	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		5	162	0	0	0	1	0	5	162					A	58348375	G	A	58348375	3	1	43	1	0	0	0	0	1	0	0	0	11820	1058	37	1	815	1	PHACTR3	20	58348375	Missense_Mutation	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08	10743180	58348375	4677145	63	4076										
PICK1	9463	broad.mit.edu	37	chr22	38470949	38470949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	cgactgctacgcagtgctgcGggatgccgacgtcttcccca	12	15	1	0			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr22:38470949G>A	ENST00000404072.3	+	13	1405	c.1058G>A	c.(1057-1059)cGg>cAg	p.R353Q	PICK1_ENST00000356976.3_Missense_Mutation_p.R353Q|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	353	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GCAGTGCTGCGGGATGCCGAC	0.617																																						ENST00000404072.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1057-1059)cGg>cAg		protein interacting with PRKCA 1							108	74	86					22																	38470949		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.chr22:38470949G>A	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"protein kinase C, alpha binding protein", "protein interacting with PRKCA"	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.1058G>A	22.37:g.38470949G>A	ENSP00000385205:p.Arg353Gln		Somatic				PICK1_ENST00000356976.3_Missense_Mutation_p.R353Q	p.R353Q	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	WXS	Illumina GAIIx	Phase_I	Q9NRD5	PICK1_HUMAN			13	1405	+	Melanoma(58;0.045)		353			AH.		B3KS52|O95906	Missense_Mutation	SNP	ENST00000404072.3	37	c.1058G>A	CCDS13965.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681847	0.29872	.	.	ENSG00000100151	ENST00000404072;ENST00000356976	T;T	0.75589	-0.95;-0.95	4.33	3.27	0.37495	Arfaptin-like (2);	0.126712	0.53938	D	0.000045	T	0.45696	0.1355	N	0.02011	-0.69	0.33329	D	0.568347	B	0.16166	0.016	B	0.08055	0.003	T	0.50065	-0.8871	10	0.35671	T	0.21	-6.0804	9.3911	0.38374	0.1714:0.0:0.8286:0.0	.	353	Q9NRD5	PICK1_HUMAN	Q	353	ENSP00000385205:R353Q;ENSP00000349465:R353Q	ENSP00000349465:R353Q	R	+	2	0	PICK1	36800895	1.000000	0.71417	0.717000	0.30585	0.401000	0.30781	4.589000	0.61006	0.903000	0.36546	0.561000	0.74099	CGG		0.617	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		28	36	0	0	0	1	0	28	36					A	38470949	G	A	38470949	3	1	43	1	0	0	0	0	1	0	0	0	11890	1116	39	1	1104	1	PICK1	22	38470949	Missense_Mutation	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08		38470949	12833617	64	4077										
WWC3	55841	broad.mit.edu	37	chrX	10066584	10066584	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	acaagacttgtagaccgagtCagacttaattggcaatatga	9	7	1	4			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:10066584C>A	ENST00000380861.4	+	8	1087	c.696C>A	c.(694-696)gtC>gtA	p.V232V	WWC3_ENST00000454666.1_Silent_p.V232V	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	232					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						TAGACCGAGTCAGACTTAATT	0.368																																						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.(694-696)gtC>gtA		WWC family member 3							91	85	87					X																	10066584		2203	4300	6503	SO:0001819	synonymous_variant	55841							g.chrX:10066584C>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.696C>A	X.37:g.10066584C>A			Somatic				WWC3_ENST00000454666.1_Silent_p.V232V	p.V232V	NM_015691.3	NP_056506.2	WXS	Illumina GAIIx	Phase_I	Q9ULE0	WWC3_HUMAN			8	1087	+			232					A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	c.696C>A	CCDS14136.1																																																																																				0.368	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		8	26	1	0	0.000274275	1	0.000290221	8	26					A	10066584	C	A	10066584	2	1	43	1	0	0	0	0	0	0	0	1	17428	813	29	2		2	WWC3	23	10066584	Silent	SNP	C	TCGA-NA-A4R0-01A-11D-A28R-08		10066584	145203976	65	4078										
HUWE1	10075	broad.mit.edu	37	chrX	53574727	53574727	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	cgtggcagcaaccagggctgGagcagaagtgacaggggtgg	19	8	0	2			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:53574727G>T	ENST00000342160.3	-	67	11000	c.10543C>A	c.(10543-10545)Cca>Aca	p.P3515T	HUWE1_ENST00000262854.6_Missense_Mutation_p.P3515T|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3515	Thr-rich.				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						ACCAGGGCTGGAGCAGAAGTG	0.592																																						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.(10543-10545)Cca>Aca		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							89	69	75					X																	53574727		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:53574727G>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10543C>A	X.37:g.53574727G>T	ENSP00000340648:p.Pro3515Thr		Somatic				HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.P3515T	p.P3515T			WXS	Illumina GAIIx	Phase_I	Q7Z6Z7	HUWE1_HUMAN			67	11000	-			3515			Thr-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.10543C>A	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	4.876|4.876	0.162841|0.162841	0.09287|0.09287	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.36878|.	1.23;1.23|.	3.84|3.84	3.84|3.84	0.44239|0.44239	.|.	1.517710|.	0.03762|.	N|.	0.258266|.	T|T	0.24967|0.24967	0.0606|0.0606	N|N	0.08118|0.08118	0|0	0.32037|0.32037	N|N	0.598811|0.598811	B;B|.	0.19817|.	0.023;0.039|.	B;B|.	0.09377|.	0.002;0.004|.	T|T	0.22941|0.22941	-1.0202|-1.0202	10|5	0.45353|.	T|.	0.12|.	.|.	10.3324|10.3324	0.43831|0.43831	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3515;3499|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	T|Y	3515|2548;352	ENSP00000340648:P3515T;ENSP00000262854:P3515T|.	ENSP00000262854:P3515T|.	P|S	-|-	1|2	0|0	HUWE1|HUWE1	53591452|53591452	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	1.811000|1.811000	0.38942|0.38942	2.195000|2.195000	0.70347|0.70347	0.502000|0.502000	0.49764|0.49764	CCA|TCC		0.592	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		8	29	1	0	1.12685e-05	1	1.22075e-05	8	29					T	53574727	G	T	53574727	3	4	43	1	0	0	0	0	1	0	0	0	7470	1174	41	2	2649	2	HUWE1	23	53574727	Missense_Mutation	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08	43508143	53574727	101695833	66	4079										
HUWE1	10075	broad.mit.edu	37	chrX	53575115	53575115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	aataagtcccagaagtctgtGcaaatgccactgctggagga	11	9	1	1			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:53575115G>A	ENST00000342160.3	-	67	10612	c.10155C>T	c.(10153-10155)tgC>tgT	p.C3385C	HUWE1_ENST00000262854.6_Silent_p.C3385C|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3385					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						AGAAGTCTGTGCAAATGCCAC	0.532																																						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.(10153-10155)tgC>tgT		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							63	44	50					X																	53575115		2203	4300	6503	SO:0001819	synonymous_variant	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:53575115G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10155C>T	X.37:g.53575115G>A			Somatic				HUWE1_ENST00000262854.6_Silent_p.C3385C	p.C3385C			WXS	Illumina GAIIx	Phase_I	Q7Z6Z7	HUWE1_HUMAN			67	10612	-			3385					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.10155C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	3.037	-0.198371	0.06219	.	.	ENSG00000086758	ENST00000427052;ENST00000426907	.	.	.	5.75	3.05	0.35203	.	.	.	.	.	T	0.58921	0.2156	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51228	-0.8732	4	.	.	.	.	9.5805	0.39484	0.2371:0.0:0.7629:0.0	.	.	.	.	Y	2419;223	.	.	H	-	1	0	HUWE1	53591840	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	1.266000	0.33039	0.230000	0.21059	-0.297000	0.09499	CAC		0.532	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		5	19	0	0	0	1	0	5	19					A	53575115	G	A	53575115	2	1	43	1	0	0	0	0	0	0	0	1	7470	1311	46	3		3	HUWE1	23	53575115	Silent	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08	388	53575115	101695445	67	4080										
NXF5	55998	broad.mit.edu	37	chrX	101092527	101092527	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	cggtctggtaccacatgtccAccaggatggaggtgaagtca	13	10	2	1			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:101092527A>T	ENST00000361708.2	-	15	1378	c.1019T>A	c.(1018-1020)gTg>gAg	p.V340E	NXF5_ENST00000537026.1_Missense_Mutation_p.V340E|NXF5_ENST00000473265.2_Missense_Mutation_p.V340E			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	340	NTF2; truncated.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CCACATGTCCACCAGGATGGA	0.562																																						ENST00000537026.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						c.(1018-1020)gTg>gAg		nuclear RNA export factor 5							211	166	181					X																	101092527		2203	4300	6503	SO:0001583	missense	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101092527A>T	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.1019T>A	X.37:g.101092527A>T	ENSP00000355286:p.Val340Glu		Somatic				NXF5_ENST00000473265.2_Missense_Mutation_p.V340E|NXF5_ENST00000361708.2_Missense_Mutation_p.V340E	p.V340E	NM_032946.2	NP_116564.2	WXS	Illumina GAIIx	Phase_I	Q9H1B4	NXF5_HUMAN			15	1378	-			340			NTF2; truncated.		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37	c.1019T>A		.	.	.	.	.	.	.	.	.	.	.	16.49	3.138419	0.56936	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.61040	0.25;0.25;0.14	2.11	2.11	0.27256	.	0.348179	0.25762	U	0.028476	T	0.70281	0.3206	M	0.82132	2.575	0.41847	D	0.990157	D	0.63046	0.992	D	0.64042	0.921	T	0.72404	-0.4304	10	0.87932	D	0	.	7.5811	0.27965	1.0:0.0:0.0:0.0	.	340	A2RRM0	.	E	340	ENSP00000442401:V340E;ENSP00000426978:V340E;ENSP00000355286:V340E	ENSP00000263032:V340E	V	-	2	0	NXF5	100979183	1.000000	0.71417	0.567000	0.28434	0.241000	0.25554	5.843000	0.69424	1.111000	0.41721	0.226000	0.17787	GTG		0.562	NXF5-201	KNOWN	basic	protein_coding	protein_coding				51	176	0	0	0	1	0	51	176					T	101092527	A	T	101092527	3	4	43	1	0	0	0	0	1	0	0	0	10795	159	6	4	86	4	NXF5	23	101092527	Missense_Mutation	SNP	A	TCGA-NA-A4R0-01A-11D-A28R-08	47517412	101092527	54178033	68	4081										
COL4A6	1288	broad.mit.edu	37	chrX	107408631	107408631	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	tctaggcctggtcgcccgggGtcaccaggctgtcctgctat	13	14	2	0	rs372872699		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:107408631G>T	ENST00000372216.4	-	38	3880	c.3780C>A	c.(3778-3780)gaC>gaA	p.D1260E	COL4A6_ENST00000334504.7_Missense_Mutation_p.D1259E|COL4A6_ENST00000538570.1_Missense_Mutation_p.D1235E|COL4A6_ENST00000394872.2_Missense_Mutation_p.D1260E|COL4A6_ENST00000545689.1_Missense_Mutation_p.D1235E	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1260	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GTCGCCCGGGGTCACCAGGCT	0.557									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(3778-3780)gaC>gaA		collagen, type IV, alpha 6							99	92	95					X																	107408631		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107408631G>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3780C>A	X.37:g.107408631G>T	ENSP00000361290:p.Asp1260Glu		Somatic				COL4A6_ENST00000372216.4_Missense_Mutation_p.D1260E|COL4A6_ENST00000334504.7_Missense_Mutation_p.D1259E|COL4A6_ENST00000545689.1_Missense_Mutation_p.D1235E|COL4A6_ENST00000538570.1_Missense_Mutation_p.D1235E	p.D1260E			WXS	Illumina GAIIx	Phase_I	Q14031	CO4A6_HUMAN			38	4011	-			1260			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.3780C>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189628	0.38707	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.96885	-3.36;-3.36;-3.36;-3.36;-4.16	4.32	-0.866	0.10659	.	0.175799	0.27420	N	0.019456	D	0.91888	0.7432	N	0.02765	-0.5	0.25787	N	0.984667	D;B;D;D	0.67145	0.996;0.047;0.973;0.988	D;B;P;P	0.77557	0.99;0.018;0.866;0.858	D	0.85586	0.1243	10	0.35671	T	0.21	.	5.3846	0.16211	0.3858:0.248:0.3661:0.0	.	1235;1235;1260;1259	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	E	1260;1259;1260;1259;1235;1235	ENSP00000361290:D1260E;ENSP00000334733:D1259E;ENSP00000378340:D1260E;ENSP00000443707:D1235E;ENSP00000445236:D1235E	ENSP00000334733:D1259E	D	-	3	2	COL4A6	107295287	0.887000	0.30362	0.056000	0.19401	0.914000	0.54420	0.096000	0.15147	-0.480000	0.06803	-0.297000	0.09499	GAC		0.557	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			30	126	1	0	3.1745e-13	1	3.75168e-13	30	126					T	107408631	G	T	107408631	3	4	43	1	0	0	0	0	1	0	0	0	3697	1252	44	5	1327	5	COL4A6	23	107408631	Missense_Mutation	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08	6316104	107408631	47861929	69	4082										
KLHL13	90293	broad.mit.edu	37	chrX	117054245	117054245	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	cactagcagatgccatcatgActctatgcacagggaaagca	9	11	2	2			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:117054245A>G	ENST00000262820.3	-	3	1238	c.329T>C	c.(328-330)gTc>gCc	p.V110A	KLHL13_ENST00000469946.1_Missense_Mutation_p.V59A|KLHL13_ENST00000371878.1_Missense_Mutation_p.V59A|KLHL13_ENST00000541812.1_Missense_Mutation_p.V94A|KLHL13_ENST00000545703.1_Missense_Mutation_p.V68A|KLHL13_ENST00000371882.1_Missense_Mutation_p.V59A|KLHL13_ENST00000540167.1_Missense_Mutation_p.V94A|KLHL13_ENST00000539496.1_Missense_Mutation_p.V113A|KLHL13_ENST00000371876.1_Missense_Mutation_p.V59A	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	110	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)				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						TGCCATCATGACTCTATGCAC	0.418																																						ENST00000371876.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(175-177)gTc>gCc		kelch-like family member 13							197	157	171					X																	117054245		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117054245A>G	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.329T>C	X.37:g.117054245A>G	ENSP00000262820:p.Val110Ala		Somatic				KLHL13_ENST00000371882.1_Missense_Mutation_p.V59A|KLHL13_ENST00000469946.1_Missense_Mutation_p.V59A|KLHL13_ENST00000545703.1_Missense_Mutation_p.V68A|KLHL13_ENST00000540167.1_Missense_Mutation_p.V94A|KLHL13_ENST00000262820.3_Missense_Mutation_p.V110A|KLHL13_ENST00000539496.1_Missense_Mutation_p.V113A|KLHL13_ENST00000541812.1_Missense_Mutation_p.V94A|KLHL13_ENST00000371878.1_Missense_Mutation_p.V59A	p.V59A			WXS	Illumina GAIIx	Phase_I	Q9P2N7	KLH13_HUMAN			2	2597	-			110					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.176T>C	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	a	5.225	0.227058	0.09916	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;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;-0.12;-0.12	4.83	3.66	0.41972	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.169560	0.51477	D	0.000099	T	0.38054	0.1026	N	0.16790	0.44	0.31258	N	0.69325	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.10450	0.005;0.001;0.002;0.003	T	0.21245	-1.0251	10	0.26408	T	0.33	.	3.21	0.06678	0.5945:0.0:0.4055:0.0	.	94;113;104;110	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	A	59;59;59;59;94;94;113;110;68;59	ENSP00000360949:V59A;ENSP00000360943:V59A;ENSP00000360945:V59A;ENSP00000412640:V59A;ENSP00000444450:V94A;ENSP00000441029:V94A;ENSP00000443191:V113A;ENSP00000262820:V110A;ENSP00000440707:V68A;ENSP00000419803:V59A	ENSP00000262820:V110A	V	-	2	0	KLHL13	116938273	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.316000	0.72857	1.779000	0.52309	0.438000	0.28831	GTC		0.418	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		27	95	0	0	0	1	0	27	95					G	117054245	A	G	117054245	3	3	43	1	0	0	0	0	1	0	0	0	8378	275	10	4	1658	4	KLHL13	23	117054245	Missense_Mutation	SNP	A	TCGA-NA-A4R0-01A-11D-A28R-08	9645614	117054245	38216315	70	4083										
RHOXF1	158800	broad.mit.edu	37	chrX	119249749	119249749	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	ctcaggcagtagaacacggtGtcgtggacgagcgaacgcgc	15	11	1	1			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:119249749G>T	ENST00000217999.2	-	1	98	c.24C>A	c.(22-24)gaC>gaA	p.D8E	GS1-421I3.4_ENST00000422226.1_lincRNA|RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	8					gamete generation (GO:0007276)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|sexual reproduction (GO:0019953)|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)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						AGAACACGGTGTCGTGGACGA	0.607																																						ENST00000217999.2																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						c.(22-24)gaC>gaA		Rhox homeobox family, member 1							38	34	35					X																	119249749		2193	4297	6490	SO:0001583	missense	158800				gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:119249749G>T		CCDS14593.1	Xq24	2011-06-20			ENSG00000101883	ENSG00000101883		"Homeoboxes / PRD class"	29993	protein-coding gene	gene with protein product		300446				11980563, 12490318	Standard	NM_139282		Approved	OTEX, PEPP1	uc004esk.2	Q8NHV9	OTTHUMG00000022290	ENST00000217999.2:c.24C>A	X.37:g.119249749G>T	ENSP00000217999:p.Asp8Glu		Somatic				RP4-755D9.1_ENST00000553843.1_RNA	p.D8E	NM_139282.1	NP_644811.1	WXS	Illumina GAIIx	Phase_I	Q8NHV9	RHXF1_HUMAN			1	98	-			8					O95030|Q3SYE0	Missense_Mutation	SNP	ENST00000217999.2	37	c.24C>A	CCDS14593.1	.	.	.	.	.	.	.	.	.	.	g	9.047	0.991085	0.18966	.	.	ENSG00000101883	ENST00000217999	D	0.92545	-3.06	2.22	1.35	0.21983	.	.	.	.	.	D	0.84520	0.5490	N	0.24115	0.695	0.09310	N	1	P	0.40578	0.722	B	0.40825	0.341	T	0.76080	-0.3090	9	0.62326	D	0.03	-23.5381	4.4186	0.11468	0.2007:0.0:0.7993:0.0	.	8	Q8NHV9	RHXF1_HUMAN	E	8	ENSP00000217999:D8E	ENSP00000217999:D8E	D	-	3	2	RHOXF1	119133777	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.749000	0.26320	0.401000	0.25424	-0.329000	0.08387	GAC		0.607	RHOXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058083.2	NM_139282		21	77	1	0	8.34094e-07	1	9.14488e-07	21	77					T	119249749	G	T	119249749	3	4	43	1	0	0	0	0	1	0	0	0	13362	1368	48	5	542	5	RHOXF1	23	119249749	Missense_Mutation	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08	2195504	119249749	36020811	71	4084										
MAGEA11	4110	broad.mit.edu	37	chrX	148798278	148798278	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0833333333333333	6	1	1.40437158469945	1.68524590163934	1.29634300126103	0.619909502262444	1	0	accggcaggtgcccggcactGatcctgcatgctatgagttc	12	13	0	2			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:148798278G>A	ENST00000355220.5	+	5	1234	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	MAGEA11_ENST00000333104.4_Missense_Mutation_p.D349N	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	378	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)					GCCCGGCACTGATCCTGCATG	0.557																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(1132-1134)Gat>Aat		melanoma antigen family A, 11							116	109	111					X																	148798278		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148798278G>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.1132G>A	X.37:g.148798278G>A	ENSP00000347358:p.Asp378Asn		Somatic				MAGEA11_ENST00000333104.4_Missense_Mutation_p.D349N	p.D378N	NM_005366.4	NP_005357.2	WXS	Illumina GAIIx	Phase_I	P43364	MAGAB_HUMAN			5	1234	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		378			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.1132G>A	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	11.66	1.705663	0.30232	.	.	ENSG00000185247	ENST00000333104;ENST00000355220	T;T	0.05319	3.46;3.46	0.909	-0.143	0.13444	.	.	.	.	.	T	0.07007	0.0178	L	0.50993	1.605	0.09310	N	1	B;B	0.23990	0.035;0.095	B;B	0.33254	0.063;0.16	T	0.43686	-0.9376	8	.	.	.	.	4.3707	0.11246	0.0:0.4277:0.5723:0.0	.	349;378	G5E962;P43364	.;MAGAB_HUMAN	N	349;378	ENSP00000328177:D349N;ENSP00000347358:D378N	.	D	+	1	0	MAGEA11	148576127	0.000000	0.05858	0.000000	0.03702	0.698000	0.40448	-0.228000	0.09114	-0.117000	0.11872	0.377000	0.23210	GAT		0.557	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		60	227	0	0	0	1	0	60	227					A	148798278	G	A	148798278	3	1	43	1	0	0	0	0	1	0	0	0	9174	1290	45	3	1159	3	MAGEA11	23	148798278	Missense_Mutation	SNP	G	TCGA-NA-A4R0-01A-11D-A28R-08	29548529	148798278	6472282	72	4085										
ATAD3C	219293	broad.mit.edu	37	chr1	1391260	1391260	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tacaggcacatcctgctgtaCgggccaccaggcaccgggaa	12	14	0	0	rs569952968		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:1391260C>T	ENST00000378785.2	+	6	1523	c.528C>T	c.(526-528)taC>taT	p.Y176Y		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	176							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)		TCCTGCTGTACGGGCCACCAG	0.627													c|||	1	0.000199681	8e-04	0	5008	,	,		19249	0		0	False		,,,				2504	0					ENST00000378785.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7						c.(526-528)taC>taT		ATPase family, AAA domain containing 3C							79	87	84					1																	1391260		692	1591	2283	SO:0001819	synonymous_variant	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1391260C>T	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"ATPases / AAA-type"	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.528C>T	1.37:g.1391260C>T			Somatic					p.Y176Y	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)	6	1523	+	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)	176					Q8N1Z5	Silent	SNP	ENST00000378785.2	37	c.528C>T	CCDS44039.1																																																																																				0.627	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		19	31	0	0	0	1	0	19	31					T	1391260	C	T	1391260	2	4	44	1	0	0	0	0	0	0	0	1	1075	547	19	1		1	ATAD3C	1	1391260	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08		1391260	247859361	1	4086										
GNB1	2782	broad.mit.edu	37	chr1	1747258	1747258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gcccccgcagtgtcctcctcGtgcgcatttggattcttccc	9	17	1	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:1747258G>A	ENST00000378609.4	-	5	471	c.140C>T	c.(139-141)aCg>aTg	p.T47M		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	47					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		TGTCCTCCTCGTGCGCATTTG	0.488																																						ENST00000378609.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(139-141)aCg>aTg		guanine nucleotide binding protein (G protein), beta polypeptide 1							148	116	127					1																	1747258		2203	4300	6503	SO:0001583	missense	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1747258G>A	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"WD repeat domain containing"	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.140C>T	1.37:g.1747258G>A	ENSP00000367872:p.Thr47Met		Somatic					p.T47M	NM_002074.3	NP_002065.1	WXS	Illumina GAIIx	Phase_I	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	5	471	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	47					B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.140C>T	CCDS34.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914339	0.33815	.	.	ENSG00000078369	ENST00000378609;ENST00000378606;ENST00000434686;ENST00000439272;ENST00000437146	T;T;T;T	0.01335	5.0;5.0;5.0;5.0	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	T	0.04724	0.0128	L	0.40543	1.245	0.80722	D	1	D	0.59357	0.985	P	0.57468	0.821	T	0.47086	-0.9144	10	0.59425	D	0.04	-11.2184	18.8427	0.92190	0.0:0.0:1.0:0.0	.	47	P62873	GBB1_HUMAN	M	47;47;47;34;47	ENSP00000367872:T47M;ENSP00000392765:T47M;ENSP00000399741:T34M;ENSP00000416651:T47M	ENSP00000367869:T47M	T	-	2	0	GNB1	1737118	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	8.981000	0.93465	2.801000	0.96364	0.655000	0.94253	ACG		0.488	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		11	29	0	0	0	1	0	11	29					A	1747258	G	A	1747258	3	1	44	1	0	0	0	0	1	0	0	0	6523	1145	40	1	910	1	GNB1	1	1747258	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	355998	1747258	247503363	2	4087										
TMEM201	199953	broad.mit.edu	37	chr1	9661177	9661177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ttgcagaacttctcctccgcCgtgaagtccccggtccaggt	10	15	1	2	rs201467842		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:9661177C>T	ENST00000340381.6	+	5	630	c.621C>T	c.(619-621)gcC>gcT	p.A207A	TMEM201_ENST00000340305.5_Silent_p.A207A|TMEM201_ENST00000377376.4_Silent_p.A207A	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	207					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)		TCTCCTCCGCCGTGAAGTCCC	0.652																																						ENST00000340305.5																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(619-621)gcC>gcT		transmembrane protein 201							65	66	65					1																	9661177		2203	4300	6503	SO:0001819	synonymous_variant	199953					integral to membrane|nuclear inner membrane		g.chr1:9661177C>T		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.621C>T	1.37:g.9661177C>T			Somatic				TMEM201_ENST00000377376.4_Silent_p.A207A|TMEM201_ENST00000340381.6_Silent_p.A207A	p.A207A	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	630	+	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)	207					B9EH90|Q5SNT3	Silent	SNP	ENST00000340381.6	37	c.621C>T	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	C	0.223	-1.026812	0.02045	.	.	ENSG00000188807	ENST00000416541	.	.	.	4.98	-4.49	0.03504	.	.	.	.	.	T	0.16041	0.0386	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.26780	-1.0093	4	.	.	.	-7.1082	0.2821	0.00246	0.3436:0.2245:0.2094:0.2225	.	.	.	.	C	117	.	.	R	+	1	0	TMEM201	9583764	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.594000	0.00896	-0.641000	0.05487	-1.461000	0.01025	CGT		0.652	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		37	121	0	0	0	1	0	37	121					T	9661177	C	T	9661177	2	4	44	1	0	0	0	0	0	0	0	1	16141	639	23	1		1	TMEM201	1	9661177	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	7913919	9661177	239589444	3	4088										
PADI1	29943	broad.mit.edu	37	chr1	17570624	17570624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ctggagcctctgggcctgcaCtgcatcttcattgatgacta	10	12	3	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:17570624C>T	ENST00000375471.4	+	16	1970	c.1878C>T	c.(1876-1878)caC>caT	p.H626H	PADI1_ENST00000413717.2_Silent_p.H141H|PADI1_ENST00000536552.1_Silent_p.H97H|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000537499.1_Silent_p.H183H	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	626					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)	TGGGCCTGCACTGCATCTTCA	0.597																																					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.(1876-1878)caC>caT		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)						97	88	91					1																	17570624		2203	4300	6503	SO:0001819	synonymous_variant	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17570624C>T	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.1878C>T	1.37:g.17570624C>T			Somatic				PADI1_ENST00000536552.1_Silent_p.H97H|PADI1_ENST00000537499.1_Silent_p.H183H|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Silent_p.H141H	p.H626H	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)	16	1970	+		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)	626					A1L4K6|Q70SX6	Silent	SNP	ENST00000375471.4	37	c.1878C>T	CCDS178.1																																																																																				0.597	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		39	38	0	0	0	1	0	39	38					T	17570624	C	T	17570624	2	4	44	1	0	0	0	0	0	0	0	1	11386	564	20	3		3	PADI1	1	17570624	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	7909447	17570624	231679997	4	4089										
EPHA8	2046	broad.mit.edu	37	chr1	22928123	22928123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gcacccttccttcacagggaCgtgcgcgccctgggcatcac	11	17	2	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:22928123C>T	ENST00000166244.3	+	17	2979	c.2907C>T	c.(2905-2907)gaC>gaT	p.D969D		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	969	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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)		TTCACAGGGACGTGCGCGCCC	0.697																																						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.(2905-2907)gaC>gaT		EPH receptor A8							16	18	17					1																	22928123		2190	4288	6478	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22928123C>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.2907C>T	1.37:g.22928123C>T			Somatic					p.D969D	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)	17	2979	+		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)	969			SAM.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.2907C>T	CCDS225.1																																																																																				0.697	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		5	10	0	0	0	1	0	5	10					T	22928123	C	T	22928123	2	4	44	1	0	0	0	0	0	0	0	1	5175	535	19	1		1	EPHA8	1	22928123	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	5357499	22928123	226322498	5	4090										
IL28RA	163702	broad.mit.edu	37	chr1	24484264	24484264	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ggtggctggggccctgactcGaggcgtcggcctgacccctc	16	15	0	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:24484264G>A	ENST00000327535.1	-	7	931	c.919C>T	c.(919-921)Cga>Tga	p.R307*	IFNLR1_ENST00000374421.3_Nonsense_Mutation_p.R278*|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	307					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											GCCCTGACTCGAGGCGTCGGC	0.577																																						ENST00000327535.1																			0											c.(919-921)Cga>Tga		interferon, lambda receptor 1							141	144	143					1																	24484264		2203	4300	6503	SO:0001587	stop_gained	163702							g.chr1:24484264G>A	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"Interferons"	18584	protein-coding gene	gene with protein product	"interferon lambda receptor 1"	607404	"interleukin 28 receptor, alpha", "interleukin 28 receptor, alpha (interferon, lambda receptor)"	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.919C>T	1.37:g.24484264G>A	ENSP00000327824:p.Arg307*		Somatic				IFNLR1_ENST00000374421.3_Nonsense_Mutation_p.R278*|IFNLR1_ENST00000327575.2_3'UTR	p.R307*	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	WXS	Illumina GAIIx	Phase_I					7	931	-								Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Nonsense_Mutation	SNP	ENST00000327535.1	37	c.919C>T	CCDS248.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072482	0.36566	.	.	ENSG00000185436	ENST00000327535;ENST00000374421	.	.	.	4.55	-9.11	0.00711	.	2.548230	0.01580	N	0.021030	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	7.5325	10.4791	0.44682	0.0:0.4726:0.3839:0.1435	.	.	.	.	X	307;278	.	ENSP00000327824:R307X	R	-	1	2	IL28RA	24356851	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-1.732000	0.01851	-2.011000	0.00952	-0.264000	0.10439	CGA		0.577	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		98	95	0	0	0	1	0	98	95					A	24484264	G	A	24484264	4	1	44	1	0	0	0	0	0	1	0	0	7693	1066	37	1	647	1	IL28RA	1	24484264	Nonsense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	1556141	24484264	224766357	6	4091										
C1orf201	90529	broad.mit.edu	37	chr1	24727829	24727829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ctttctgtacttcactggcaCgtctgggatgtttgccagtg	11	10	3	0	rs533457586		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:24727829C>T	ENST00000374409.1	-	2	304	c.50G>A	c.(49-51)cGt>cAt	p.R17H	STPG1_ENST00000337248.4_Missense_Mutation_p.R17H|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_Missense_Mutation_p.V10M|STPG1_ENST00000440416.1_Missense_Mutation_p.V10M	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	17					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TTCACTGGCACGTCTGGGATG	0.418													C|||	1	0.000199681	0	0	5008	,	,		21449	0		0	False		,,,				2504	0.001					ENST00000374409.1																			0											c.(49-51)cGt>cAt		sperm-tail PG-rich repeat containing 1							200	164	176					1																	24727829		2203	4300	6503	SO:0001583	missense	90529							g.chr1:24727829C>T	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 2"	615826	"chromosome 1 open reading frame 201"	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.50G>A	1.37:g.24727829C>T	ENSP00000363530:p.Arg17His		Somatic				STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Missense_Mutation_p.R17H|STPG1_ENST00000003583.8_Missense_Mutation_p.V10M|STPG1_ENST00000440416.1_Missense_Mutation_p.V10M	p.R17H	NM_001199012.1	NP_001185941.1	WXS	Illumina GAIIx	Phase_I					2	304	-								Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	ENST00000374409.1	37	c.50G>A	CCDS55581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.52|10.52	1.374124|1.374124	0.24857|0.24857	.|.	.|.	ENSG00000001460|ENSG00000001460	ENST00000374409;ENST00000337248;ENST00000437986|ENST00000440416;ENST00000003583	.|.	.|.	.|.	3.58|3.58	-3.85|-3.85	0.04243|0.04243	.|.	2.738510|.	0.01307|.	N|.	0.010518|.	T|T	0.25457|0.25457	0.0619|0.0619	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B	0.02656|0.15473	0.0|0.013	B|B	0.01281|0.09377	0.0|0.004	T|T	0.25363|0.25363	-1.0134|-1.0134	8|7	0.20046|0.66056	T|D	0.44|0.02	-1.6872|-1.6872	3.382|3.382	0.07257|0.07257	0.3394:0.3844:0.0:0.2762|0.3394:0.3844:0.0:0.2762	.|.	17|10	Q5TH74|Q5TH74-3	CA201_HUMAN|.	H|M	17|10	.|.	ENSP00000337461:R17H|ENSP00000003583:V10M	R|V	-|-	2|1	0|0	C1orf201|C1orf201	24600416|24600416	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.034000|0.034000	0.12701|0.12701	-0.566000|-0.566000	0.05922|0.05922	-0.818000|-0.818000	0.04329|0.04329	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.418	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		3	21	0	0	0	1	0	3	21					T	24727829	C	T	24727829	3	4	44	1	0	0	0	0	1	0	0	0	2029	536	19	1	863	1	C1orf201	1	24727829	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	243565	24727829	224522792	7	4092										
CLIC4	25932	broad.mit.edu	37	chr1	25140694	25140694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ttgaggaatttcttgaagaaGtcttatgccctcccaagtga	9	8	2	4			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:25140694G>A	ENST00000374379.4	+	3	489	c.292G>A	c.(292-294)Gtc>Atc	p.V98I	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	98	Required for insertion into the membrane. {ECO:0000305}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		TCTTGAAGAAGTCTTATGCCC	0.403																																						ENST00000374379.4																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(292-294)Gtc>Atc		chloride intracellular channel 4							81	86	85					1																	25140694		2203	4300	6503	SO:0001583	missense	25932				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity	g.chr1:25140694G>A	AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"Ion channels / Chloride channels : Intracellular"	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.292G>A	1.37:g.25140694G>A	ENSP00000363500:p.Val98Ile		Somatic				CLIC4_ENST00000497755.1_3'UTR	p.V98I	NM_013943.2	NP_039234.1	WXS	Illumina GAIIx	Phase_I	Q9Y696	CLIC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)	3	489	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	98			Required for insertion into the membrane (Probable).		Q9UFW9|Q9UQJ6	Missense_Mutation	SNP	ENST00000374379.4	37	c.292G>A	CCDS256.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135165	0.56828	.	.	ENSG00000169504	ENST00000374379;ENST00000444041	T	0.42513	0.97	5.85	5.85	0.93711	Glutathione S-transferase/chloride channel, C-terminal (1);Thioredoxin-like fold (2);	0.054502	0.64402	D	0.000001	T	0.36524	0.0970	L	0.33137	0.985	0.27145	N	0.961546	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.13282	-1.0515	10	0.33940	T	0.23	-14.6151	18.9445	0.92616	0.0:0.0:1.0:0.0	.	78;98	B3KTR3;Q9Y696	.;CLIC4_HUMAN	I	98	ENSP00000363500:V98I	ENSP00000363500:V98I	V	+	1	0	CLIC4	25013281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.771000	0.55318	2.768000	0.95171	0.655000	0.94253	GTC		0.403	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009332.1	NM_013943		46	32	0	0	0	1	0	46	32					A	25140694	G	A	25140694	3	1	44	1	0	0	0	0	1	0	0	0	3530	1029	36	3	302	3	CLIC4	1	25140694	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	412865	25140694	224109927	8	4093										
AIM1L	55057	broad.mit.edu	37	chr1	26669268	26669268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gacaaccctccttagggagcCgatgccttggggactccact	11	14	0	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:26669268C>T	ENST00000308182.5	-	4	475	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	AIM1L_ENST00000527815.1_Missense_Mutation_p.G187S			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	16							carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CTTAGGGAGCCGATGCCTTGG	0.597																																						ENST00000527815.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12						c.(559-561)Ggc>Agc		absent in melanoma 1-like							214	197	203					1																	26669268		2203	4300	6503	SO:0001583	missense	55057						sugar binding	g.chr1:26669268C>T			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"beta-gamma crystallin domain containing 2"						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.46G>A	1.37:g.26669268C>T	ENSP00000310435:p.Gly16Ser		Somatic				AIM1L_ENST00000308182.5_Missense_Mutation_p.G16S	p.G187S	NM_001039775.3	NP_001034864.2	WXS	Illumina GAIIx	Phase_I	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	4	608	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	16			Beta/gamma crystallin 'Greek key' 4.		B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37	c.559G>A		.	.	.	.	.	.	.	.	.	.	C	24.0	4.482924	0.84747	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.75477	-0.94;-0.82	5.43	5.43	0.79202	Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.87018	0.6073	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86274	0.1663	10	0.40728	T	0.16	.	18.8456	0.92205	0.0:1.0:0.0:0.0	.	16	Q8N1P7	AIM1L_HUMAN	S	187;16	ENSP00000433931:G187S;ENSP00000310435:G16S	ENSP00000310435:G16S	G	-	1	0	AIM1L	26541855	1.000000	0.71417	0.977000	0.42913	0.263000	0.26337	5.623000	0.67757	2.571000	0.86741	0.563000	0.77884	GGC		0.597	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		105	112	0	0	0	1	0	105	112					T	26669268	C	T	26669268	3	4	44	1	0	0	0	0	1	0	0	0	431	652	23	1	1868	1	AIM1L	1	26669268	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	1528574	26669268	222581353	9	4094										
GJB3	2707	broad.mit.edu	37	chr1	35250835	35250835	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ctctctggcatggcttcaatAtgccgcgcctggtgcagtgt	12	12	2	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:35250835A>G	ENST00000373366.2	+	2	1087	c.472A>G	c.(472-474)Atg>Gtg	p.M158V	RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Missense_Mutation_p.M158V	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	158					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGGCTTCAATATGCCGCGCCT	0.552																																						ENST00000373366.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15						c.(472-474)Atg>Gtg		gap junction protein, beta 3, 31kDa							173	184	180					1																	35250835		2203	4300	6503	SO:0001583	missense	2707				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35250835A>G	BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"Ion channels / Gap junction proteins (connexins)"	4285	protein-coding gene	gene with protein product	"connexin 31"	603324	"gap junction protein, beta 3, 31kD (connexin 31)", "gap junction protein, beta 3, 31kDa (connexin 31)", "erythrokeratodermia variabilis"	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.472A>G	1.37:g.35250835A>G	ENSP00000362464:p.Met158Val		Somatic				RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Missense_Mutation_p.M158V	p.M158V	NM_024009.2	NP_076872.1	WXS	Illumina GAIIx	Phase_I	O75712	CXB3_HUMAN			2	1087	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	158					B2R790|Q2TAZ8	Missense_Mutation	SNP	ENST00000373366.2	37	c.472A>G	CCDS384.1	.	.	.	.	.	.	.	.	.	.	a	3.933	-0.015807	0.07681	.	.	ENSG00000188910	ENST00000373366;ENST00000373362;ENST00000543647	D;D	0.94576	-3.46;-3.46	5.31	1.09	0.20402	Gap junction protein, cysteine-rich domain (1);	0.063693	0.64402	D	0.000003	D	0.87237	0.6127	N	0.25031	0.7	0.31357	N	0.68176	B	0.21225	0.053	B	0.20955	0.032	T	0.82198	-0.0576	10	0.37606	T	0.19	.	8.0786	0.30731	0.417:0.4714:0.0:0.1116	.	158	O75712	CXB3_HUMAN	V	158;158;142	ENSP00000362464:M158V;ENSP00000362460:M158V	ENSP00000362460:M158V	M	+	1	0	GJB3	35023422	0.000000	0.05858	0.854000	0.33618	0.005000	0.04900	-0.075000	0.11431	0.834000	0.34852	0.454000	0.30748	ATG		0.552	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1	NM_024009		69	60	0	0	0	1	0	69	60					G	35250835	A	G	35250835	3	3	44	1	0	0	0	0	1	0	0	0	6417	449	16	4	474	4	GJB3	1	35250835	Missense_Mutation	SNP	A	TCGA-NA-A4R1-01A-11D-A28R-08	8581567	35250835	213999786	10	4095										
LRRC41	10489	broad.mit.edu	37	chr1	46751419	46751421	+	In_Frame_Del	DEL	AGA	AGA	-													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gcccgtttgtatgaggatgtAgaagaagaggcagaggaggt							TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:46751419_46751421delAGA	ENST00000343304.6	-	4	1393_1395	c.1108_1110delTCT	c.(1108-1110)tctdel	p.S370del	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	370					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)					ATGAGGATGTAGAAGAAGAGGCA	0.606																																						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.(1108-1110)del		leucine rich repeat containing 41				1,4,4261		0,0,1,2,0,2130						4.8	1			77	19,6,8225		1,0,17,3,0,4104	no	codingComplex	LRRC41	NM_006369.4		1,0,18,5,0,6234	A1A1,A1A2,A1R,A2A2,A2R,RR		0.303,0.1172,0.2397				20,10,12486				SO:0001651	inframe_deletion	10489							g.chr1:46751419_46751421delAGA	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.1108_1110delTCT	1.37:g.46751425_46751427delAGA	ENSP00000343298:p.Ser370del		Somatic				LRRC41_ENST00000472710.1_5'UTR	p.S370del	NM_006369.4	NP_006360.3	WXS	Illumina GAIIx	Phase_I	Q15345	LRC41_HUMAN			4	1393_1395	-	Acute lymphoblastic leukemia(166;0.155)		370					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	In_Frame_Del	DEL	ENST00000343304.6	37	c.1108_1110delTCT	CCDS533.1																																																																																				0.606	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		26	122						26	122	---	---	---	---	-	46751421	AGA	-	46751419	7	5	44	1	0	1	0	1	0	0	0	0	9008	407	15	0	1356	0	LRRC41	1	46751419	In_Frame_Del	DEL	AGA	TCGA-NA-A4R1-01A-11D-A28R-08	11500584	46751419	202499202	11	4096										
LRRC7	57554	broad.mit.edu	37	chr1	70225900	70225900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gcctggagatgaccaccaaaCggaaaatcatcggccgtctg	11	12	2	2	rs150507629		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:70225900C>T	ENST00000035383.5	+	1	43	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000310961.5_Missense_Mutation_p.R10W|LRRC7_ENST00000370958.1_Missense_Mutation_p.R43W	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	5						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.R5W(2)|p.R43W(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						GACCACCAAACGGAAAATCAT	0.458																																						ENST00000310961.5																			3	Substitution - Missense(3)	p.R5W(2)|p.R43W(1)	lung(2)|large_intestine(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.(28-30)Cgg>Tgg		leucine rich repeat containing 7		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	38	39	39		13	4.8	1	1	dbSNP_134	39	0,8596		0,0,4298	no	missense	LRRC7	NM_020794.2	101	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	5/1538	70225900	1,13001	2203	4298	6501	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70225900C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.13C>T	1.37:g.70225900C>T	ENSP00000035383:p.Arg5Trp		Somatic				LRRC7_ENST00000370958.1_Missense_Mutation_p.R43W|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.R5W	p.R10W			WXS	Illumina GAIIx	Phase_I	Q96NW7	LRRC7_HUMAN			4	446	+			5					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.28C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027422	0.75390	2.27E-4	0.0	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.48522	0.95;1.05;0.81	5.77	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.50684	-0.8799	10	0.87932	D	0	.	12.9121	0.58184	0.3236:0.6764:0.0:0.0	.	5;43	Q96NW7;B1AKT2	LRRC7_HUMAN;.	W	10;43;5;5	ENSP00000309245:R10W;ENSP00000359997:R43W;ENSP00000035383:R5W	ENSP00000035383:R5W	R	+	1	2	LRRC7	69998488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.075000	0.41538	2.729000	0.93468	0.557000	0.71058	CGG		0.458	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		21	20	0	0	0	1	0	21	20					T	70225900	C	T	70225900	3	4	44	1	0	0	0	0	1	0	0	0	9029	527	19	1	15	1	LRRC7	1	70225900	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	23474481	70225900	179024721	12	4097										
TNNI3K	100526835	broad.mit.edu	37	chr1	74797186	74797186	+	Frame_Shift_Del	DEL	T	T	-													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tgtcaatattcaagatgcagTttttttcactccattgcata							TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:74797186delT	ENST00000370899.3	+	8	837	c.800delT	c.(799-801)gttfs	p.V267fs	FPGT-TNNI3K_ENST00000370895.1_Frame_Shift_Del_p.V267fs|FPGT-TNNI3K_ENST00000557284.2_Frame_Shift_Del_p.V280fs|TNNI3K_ENST00000370891.2_Frame_Shift_Del_p.V267fs|TNNI3K_ENST00000326637.3_Frame_Shift_Del_p.V166fs	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		CAAGATGCAGTTTTTTTCACT	0.398																																						ENST00000370895.1																			0											c.(799-801)gtfs									129	106	114					1																	74797186		2203	4300	6503	SO:0001589	frameshift_variant	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74797186delT			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.800delT	1.37:g.74797186delT	ENSP00000359936:p.Val267fs		Somatic				TNNI3K_ENST00000370891.2_Frame_Shift_Del_p.V267fs|FPGT-TNNI3K_ENST00000557284.1_Frame_Shift_Del_p.V267fs|FPGT-TNNI3K_ENST00000370899.3_Frame_Shift_Del_p.V267fs|TNNI3K_ENST00000326637.3_Frame_Shift_Del_p.V166fs	p.V267fs			WXS	Illumina GAIIx	Phase_I	Q59H18	TNI3K_HUMAN			8	835	+			166						Frame_Shift_Del	DEL	ENST00000370899.3	37	c.800delT																																																																																					0.398	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			12	13						12	13	---	---	---	---	-	74797186	T	-	74797186	7	5	44	1	0	1	0	1	0	0	0	0	16344	1725	60	0	874	0	TNNI3K	1	74797186	Frame_Shift_Del	DEL	T	TCGA-NA-A4R1-01A-11D-A28R-08	4571286	74797186	174453435	13	4098										
PTBP2	58155	broad.mit.edu	37	chr1	97217025	97217025	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ggcagtgttctcagtagtccGaactctaatatgagcagcat	10	9	2	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:97217025G>A	ENST00000426398.2	+	3	127	c.84G>A	c.(82-84)ccG>ccA	p.P28P	PTBP2_ENST00000370197.1_Silent_p.P28P|PTBP2_ENST00000394184.3_Silent_p.P39P|PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000609116.1_Silent_p.P28P|PTBP2_ENST00000370198.1_Silent_p.P28P|PTBP2_ENST00000541987.1_5'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	28					mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TCAGTAGTCCGAACTCTAATA	0.348																																						ENST00000236228.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26						c.(82-84)ccG>ccA		polypyrimidine tract binding protein 2							228	217	221					1																	97217025		2203	4300	6503	SO:0001819	synonymous_variant	58155						nucleotide binding	g.chr1:97217025G>A	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"RNA binding motif (RRM) containing"	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.84G>A	1.37:g.97217025G>A			Somatic				PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000426398.2_Silent_p.P28P|PTBP2_ENST00000394184.3_Silent_p.P39P|PTBP2_ENST00000541987.1_5'UTR|PTBP2_ENST00000370198.1_Silent_p.P28P|PTBP2_ENST00000370197.1_Silent_p.P28P	p.P28P	NM_021190.2	NP_067013.1	WXS	Illumina GAIIx	Phase_I	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	3	166	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	28					Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Silent	SNP	ENST00000426398.2	37	c.84G>A	CCDS754.1																																																																																				0.348	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			75	76	0	0	0	1	0	75	76					A	97217025	G	A	97217025	2	1	44	1	0	0	0	0	0	0	0	1	12738	1045	37	1		1	PTBP2	1	97217025	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	22419839	97217025	152033596	14	4099										
INSRR	3645	broad.mit.edu	37	chr1	156823762	156823762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gctcctggttcttctccacaCgcacagccccacgcagcacg	8	19	2	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:156823762C>T	ENST00000368195.3	-	2	815	c.419G>A	c.(418-420)cGt>cAt	p.R140H	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	140					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)					CTTCTCCACACGCACAGCCCC	0.627																																						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.(418-420)cGt>cAt		insulin receptor-related receptor							60	54	56					1																	156823762		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.chr1:156823762C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.419G>A	1.37:g.156823762C>T	ENSP00000357178:p.Arg140His		Somatic				NTRK1_ENST00000392302.2_Intron	p.R140H	NM_014215.2	NP_055030.1	WXS	Illumina GAIIx	Phase_I	P14616	INSRR_HUMAN			2	815	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		140					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.419G>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919867	0.92249	.	.	ENSG00000027644	ENST00000368195	T	0.80123	-1.34	5.06	5.06	0.68205	EGF receptor, L domain (1);	0.000000	0.48767	D	0.000164	D	0.88362	0.6416	.	.	.	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.89995	0.4110	9	0.87932	D	0	.	15.916	0.79517	0.0:1.0:0.0:0.0	.	140	P14616	INSRR_HUMAN	H	140	ENSP00000357178:R140H	ENSP00000357178:R140H	R	-	2	0	INSRR	155090386	1.000000	0.71417	0.949000	0.38748	0.989000	0.77384	7.811000	0.86092	2.367000	0.80283	0.557000	0.71058	CGT		0.627	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		19	22	0	0	0	1	0	19	22					T	156823762	C	T	156823762	3	4	44	1	0	0	0	0	1	0	0	0	7783	536	19	1	3557	1	INSRR	1	156823762	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	59606737	156823762	92426859	15	4100										
TADA1	117143	broad.mit.edu	37	chr1	166829507	166829507	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tgccaaaggcatatttaaaaTgaccatctcgtaaccgataa	6	9	1	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:166829507T>C	ENST00000367874.4	-	6	701	c.608A>G	c.(607-609)cAt>cGt	p.H203R	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	203					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						ATATTTAAAATGACCATCTCG	0.358																																						ENST00000367874.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						c.(607-609)cAt>cGt		transcriptional adaptor 1							130	114	120					1																	166829507		2203	4300	6503	SO:0001583	missense	117143				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr1:166829507T>C	BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"transcriptional adaptor 1 (HFI1 homolog, yeast)-like", "transcriptional adaptor 1 (HFI1 homolog, yeast)"	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.608A>G	1.37:g.166829507T>C	ENSP00000356848:p.His203Arg		Somatic				TADA1_ENST00000467021.1_5'UTR	p.H203R	NM_053053.3	NP_444281.1	WXS	Illumina GAIIx	Phase_I	Q96BN2	TADA1_HUMAN			6	701	-			203					A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	37	c.608A>G	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	T	9.535	1.111974	0.20795	.	.	ENSG00000152382	ENST00000367874	T	0.41758	0.99	5.73	5.73	0.89815	.	0.048138	0.85682	D	0.000000	T	0.16514	0.0397	L	0.38175	1.15	0.45452	D	0.998420	B	0.09022	0.002	B	0.06405	0.002	T	0.07868	-1.0750	9	0.12430	T	0.62	-0.6623	13.9858	0.64334	0.0:0.0:0.0:1.0	.	203	Q96BN2	TADA1_HUMAN	R	203	ENSP00000356848:H203R	ENSP00000356848:H203R	H	-	2	0	TADA1	165096131	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	4.542000	0.60677	2.189000	0.69895	0.528000	0.53228	CAT		0.358	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		23	23	0	0	0	1	0	23	23					C	166829507	T	C	166829507	3	2	44	1	0	0	0	0	1	0	0	0	15524	1464	51	4	411	4	TADA1	1	166829507	Missense_Mutation	SNP	T	TCGA-NA-A4R1-01A-11D-A28R-08	10005745	166829507	82421114	16	4101										
PAPPA2	60676	broad.mit.edu	37	chr1	176709279	176709279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tcctcccgcattggtctttcGgctcccagtaactgcatctc	7	16	2	0	rs201994613	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:176709279G>A	ENST00000367662.3	+	14	5262	c.4098G>A	c.(4096-4098)tcG>tcA	p.S1366S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1366					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S1366S(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGGTCTTTCGGCTCCCAGTA	0.507													G|||	2	0.000399361	0.0015	0	5008	,	,		19046	0		0	False		,,,				2504	0					ENST00000367662.3																			1	Substitution - coding silent(1)	p.S1366S(1)	lung(1)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(4096-4098)tcG>tcA		pappalysin 2		G		1,4007		0,1,2003	107	105	106		4098	0.4	0	1		106	0,8350		0,0,4175	no	coding-synonymous	PAPPA2	NM_020318.2		0,1,6178	AA,AG,GG		0.0,0.025,0.0081		1366/1792	176709279	1,12357	2004	4175	6179	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176709279G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4098G>A	1.37:g.176709279G>A			Somatic					p.S1366S	NM_020318.2	NP_064714.2	WXS	Illumina GAIIx	Phase_I	Q9BXP8	PAPP2_HUMAN			14	5262	+			1366					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.4098G>A	CCDS41438.1																																																																																				0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			33	32	0	0	0	1	0	33	32					A	176709279	G	A	176709279	2	1	44	1	0	0	0	0	0	0	0	1	11442	1103	39	1		1	PAPPA2	1	176709279	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	9879772	176709279	72541342	17	4102										
NCF2	4688	broad.mit.edu	37	chr1	183532665	183532665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gctgagtcttcatgactaccGtgtacttgtagtgcaccttg	10	10	2	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:183532665G>A	ENST00000367535.3	-	12	1333	c.1082C>T	c.(1081-1083)aCg>aTg	p.T361M	NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000418089.1_Missense_Mutation_p.T280M|NCF2_ENST00000367536.1_Missense_Mutation_p.T361M|NCF2_ENST00000413720.1_Missense_Mutation_p.T316M	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	361	OPR.				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)	CATGACTACCGTGTACTTGTA	0.547																																						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.(946-948)aCg>aTg		neutrophil cytosolic factor 2							125	110	115					1																	183532665		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.chr1:183532665G>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.1082C>T	1.37:g.183532665G>A	ENSP00000356505:p.Thr361Met		Somatic				NCF2_ENST00000367535.3_Missense_Mutation_p.T361M|NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000418089.1_Missense_Mutation_p.T280M|NCF2_ENST00000367536.1_Missense_Mutation_p.T361M	p.T316M	NM_001190794.1	NP_001177723.1	WXS	Illumina GAIIx	Phase_I	P19878	NCF2_HUMAN			11	1221	-			361					B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.947C>T	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273257	0.80580	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000420553;ENST00000419402	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	5.74	4.82	0.62117	Phox/Bem1p (2);	0.046434	0.85682	D	0.000000	T	0.48995	0.1531	M	0.83483	2.645	0.52099	D	0.999942	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.999	T	0.55535	-0.8126	10	0.87932	D	0	-34.1734	12.8508	0.57856	0.0752:0.0:0.9248:0.0	.	280;316;361	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	M	361;433;316;280;361;12;100	ENSP00000356506:T361M;ENSP00000399294:T316M;ENSP00000407217:T280M;ENSP00000356505:T361M;ENSP00000397228:T12M;ENSP00000406198:T100M	ENSP00000356505:T361M	T	-	2	0	NCF2	181799288	1.000000	0.71417	0.977000	0.42913	0.966000	0.64601	6.438000	0.73426	1.436000	0.47453	0.650000	0.86243	ACG		0.547	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		69	85	0	0	0	1	0	69	85					A	183532665	G	A	183532665	3	1	44	1	0	0	0	0	1	0	0	0	10226	1145	40	1	514	1	NCF2	1	183532665	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	6823386	183532665	65717956	18	4103										
FAM5C	339479	broad.mit.edu	37	chr1	190067975	190067975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tttcatctcgagatcttgcaGgtcagtttcaaagccaatat	7	9	5	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:190067975G>A	ENST00000367462.3	-	8	1705	c.1474C>T	c.(1474-1476)Ctg>Ttg	p.L492L	BRINP3_ENST00000534846.1_Silent_p.L390L	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	492					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)											AGATCTTGCAGGTCAGTTTCA	0.512																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1474-1476)Ctg>Ttg									162	159	160					1																	190067975		2203	4300	6503	SO:0001819	synonymous_variant	0					extracellular region		g.chr1:190067975G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1474C>T	1.37:g.190067975G>A			Somatic				FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.L390L	p.L492L	NM_199051.1	NP_950252.1	WXS	Illumina GAIIx	Phase_I	Q76B58	FAM5C_HUMAN			8	1705	-	Prostate(682;0.198)		492					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1474C>T	CCDS1373.1																																																																																				0.512	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		29	136	0	0	0	1	0	29	136					A	190067975	G	A	190067975	2	1	44	1	0	0	0	0	0	0	0	1	5602	991	35	3		3	FAM5C	1	190067975	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	6535310	190067975	59182646	19	4104										
RASSF5	83593	broad.mit.edu	37	chr1	206711576	206711576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tcagcaggagggtttatcccGggacagaccctctccagaaa	11	12	2	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:206711576G>A	ENST00000355294.4	+	2	590	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	RASSF5_ENST00000367117.3_Missense_Mutation_p.R178Q	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	178					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GGTTTATCCCGGGACAGACCC	0.567																																					GBM(162;656 1984 11916 22872 31529)	ENST00000338603.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(532-534)cGg>cAg		Ras association (RalGDS/AF-6) domain family member 5							136	127	130					1																	206711576		2203	4300	6503	SO:0001583	missense	83593				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	g.chr1:206711576G>A	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.533G>A	1.37:g.206711576G>A	ENSP00000347443:p.Arg178Gln		Somatic				RASSF5_ENST00000367117.3_Missense_Mutation_p.R178Q|RASSF5_ENST00000355294.4_Missense_Mutation_p.R178Q	p.R178Q	NM_182663.2	NP_872604.1	WXS	Illumina GAIIx	Phase_I	Q8WWW0	RASF5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		2	590	+	Breast(84;0.183)		178					A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	ENST00000355294.4	37	c.533G>A	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627613	0.28978	.	.	ENSG00000136653	ENST00000355294;ENST00000367117;ENST00000338603;ENST00000367118	T;T;T	0.14766	3.09;2.49;2.48	5.84	-2.01	0.07410	.	1.496170	0.04101	N	0.312905	T	0.09423	0.0232	L	0.36672	1.1	0.09310	N	1	B;B;B	0.15473	0.013;0.002;0.005	B;B;B	0.06405	0.002;0.002;0.002	T	0.32348	-0.9910	10	0.13108	T	0.6	0.0228	4.046	0.09773	0.3695:0.0:0.3758:0.2547	.	178;178;180	Q8WWW0-3;Q8WWW0;Q59GG4	.;RASF5_HUMAN;.	Q	178	ENSP00000347443:R178Q;ENSP00000356084:R178Q;ENSP00000342620:R178Q	ENSP00000342620:R178Q	R	+	2	0	RASSF5	204778199	0.000000	0.05858	0.000000	0.03702	0.421000	0.31385	-0.861000	0.04268	-0.355000	0.08199	-0.251000	0.11542	CGG		0.567	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		134	87	0	0	0	1	0	134	87					A	206711576	G	A	206711576	3	1	44	1	0	0	0	0	1	0	0	0	13104	1116	39	1	539	1	RASSF5	1	206711576	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	16643601	206711576	42539045	20	4105										
C1orf107	27042	broad.mit.edu	37	chr1	210014237	210014237	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	aagcatccgactctatgcccCgttttactcctcggatatcc	6	15	1	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:210014237C>A	ENST00000491415.2	+	8	1379	c.1322C>A	c.(1321-1323)cCg>cAg	p.P441Q		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	441					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CTCTATGCCCCGTTTTACTCC	0.468																																						ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(1321-1323)cCg>cAg		digestive organ expansion factor homolog (zebrafish)							166	160	162					1																	210014237		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210014237C>A	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1322C>A	1.37:g.210014237C>A	ENSP00000419005:p.Pro441Gln		Somatic					p.P441Q	NM_014388.6	NP_055203.4	WXS	Illumina GAIIx	Phase_I	Q68CQ4	DIEXF_HUMAN			8	1379	+			441					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.1322C>A	CCDS1493.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.102317|4.102317	0.76983|0.76983	.|.	.|.	ENSG00000117597|ENSG00000117597	ENST00000491415|ENST00000457820	T|.	0.42900|.	0.96|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.103911|.	0.64402|.	D|.	0.000002|.	T|T	0.56963|0.56963	0.2021|0.2021	L|L	0.31664|0.31664	0.95|0.95	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.52601|0.52601	-0.8554|-0.8554	10|5	0.26408|.	T|.	0.33|.	-20.6652|-20.6652	17.1098|17.1098	0.86672|0.86672	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	441|.	Q68CQ4|.	DIEXF_HUMAN|.	Q|S	441|122	ENSP00000419005:P441Q|.	ENSP00000419005:P441Q|.	P|R	+|+	2|1	0|0	DIEXF|DIEXF	208080860|208080860	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.733000|0.733000	0.41908|0.41908	7.642000|7.642000	0.83385|0.83385	2.461000|2.461000	0.83175|0.83175	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.468	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		36	40	1	0	9.8876e-21	1	1.0792e-20	36	40					A	210014237	C	A	210014237	3	1	44	1	0	0	0	0	1	0	0	0	1983	652	23	5	1352	5	C1orf107	1	210014237	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	3302661	210014237	39236384	21	4106										
NSL1	25936	broad.mit.edu	37	chr1	212964879	212964879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	actggtcccgtacccactgcGcatctcgcagagcgggctcc	11	17	1	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:212964879G>A	ENST00000366977.3	-	1	245	c.227C>T	c.(226-228)gCg>gTg	p.A76V	TATDN3_ENST00000366974.4_5'Flank|TATDN3_ENST00000366973.4_5'Flank|NSL1_ENST00000422588.2_Missense_Mutation_p.A76V|TATDN3_ENST00000526997.1_5'Flank|TATDN3_ENST00000532324.1_5'Flank|NSL1_ENST00000366978.1_5'UTR|TATDN3_ENST00000526641.1_5'Flank|TATDN3_ENST00000530441.1_5'Flank|NSL1_ENST00000366976.1_Missense_Mutation_p.A76V|NSL1_ENST00000366975.6_Missense_Mutation_p.A76V|NSL1_ENST00000473995.1_5'UTR|TATDN3_ENST00000531963.1_5'Flank	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	76					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)		TACCCACTGCGCATCTCGCAG	0.582																																						ENST00000366977.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9						c.(226-228)gCg>gTg		NSL1, MIS12 kinetochore complex component							106	117	113					1																	212964879		2199	4296	6495	SO:0001583	missense	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212964879G>A	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.227C>T	1.37:g.212964879G>A	ENSP00000355944:p.Ala76Val		Somatic				NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366975.6_Missense_Mutation_p.A76V|NSL1_ENST00000422588.2_Missense_Mutation_p.A76V|NSL1_ENST00000366976.1_Missense_Mutation_p.A76V|NSL1_ENST00000366978.1_5'UTR	p.A76V	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	245	-			76					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Missense_Mutation	SNP	ENST00000366977.3	37	c.227C>T	CCDS1509.1	.	.	.	.	.	.	.	.	.	.	G	0.048	-1.257988	0.01457	.	.	ENSG00000117697	ENST00000366977;ENST00000422588;ENST00000366975;ENST00000366976	T;T;T;T	0.49720	1.4;0.77;1.38;0.81	5.13	0.381	0.16228	.	0.554792	0.20198	N	0.097160	T	0.28797	0.0714	L	0.38838	1.175	0.09310	N	1	B;B;B	0.28178	0.018;0.075;0.202	B;B;B	0.19946	0.011;0.016;0.027	T	0.18241	-1.0343	10	0.15066	T	0.55	-0.1332	7.1772	0.25751	0.4624:0.0:0.5376:0.0	.	76;76;76	B4E071;Q96IY1;E7ETD5	.;NSL1_HUMAN;.	V	76	ENSP00000355944:A76V;ENSP00000388406:A76V;ENSP00000355942:A76V;ENSP00000355943:A76V	ENSP00000355942:A76V	A	-	2	0	NSL1	211031502	0.990000	0.36364	0.044000	0.18714	0.124000	0.20399	0.922000	0.28734	-0.102000	0.12197	0.655000	0.94253	GCG		0.582	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		5	236	0	0	0	1	0	5	236					A	212964879	G	A	212964879	3	1	44	1	0	0	0	0	1	0	0	0	10682	1087	38	1	731	1	NSL1	1	212964879	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	2950642	212964879	36285742	22	4107										
OBSCN	84033	broad.mit.edu	37	chr1	228547520	228547520	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ctgtatgtgacggaggccgaGgcccactctccagctctgcc	12	15	2	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:228547520G>A	ENST00000422127.1	+	80	18705				OBSCN_ENST00000366709.4_Silent_p.E3428E|OBSCN_ENST00000284548.11_Silent_p.E6309E|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGAGGCCGAGGCCCACTCTC	0.682																																						ENST00000284548.11																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18925-18927)gaG>gaA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							14	17	16					1																	228547520		1989	4143	6132	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228547520G>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.18662-2757G>A	1.37:g.228547520G>A			Somatic				OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Silent_p.E3428E|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron	p.E6309E			WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			81	19001	+		Prostate(94;0.0405)	7132					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.18927G>A	CCDS58065.1																																																																																				0.682	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	11	0	0	0	1	0	5	11					A	228547520	G	A	228547520	1	1	44	0	1	0	0	0	0	0	0	0	10821	991	35	3		3	OBSCN	1	228547520	Intron	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	15582641	228547520	20703101	23	4108										
FAM82A1	151393	broad.mit.edu	37	chr2	38178932	38178932	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	aaaattttaagaattttgaaAcaaacactacttctccagcc	3	9	1	2	rs554716987		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:38178932A>G	ENST00000406384.1	+	2	646				RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.T192A|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.T192A|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000407257.1_Missense_Mutation_p.T192A	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											GAATTTTGAAACAAACACTAC	0.333																																						ENST00000407257.1																			0											c.(574-576)Aca>Gca		regulator of microtubule dynamics 2							93	99	97					2																	38178932		2203	4300	6503	SO:0001627	intron_variant	151393							g.chr2:38178932A>G	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"family with sequence similarity 82, member A1"	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.452+22060A>G	2.37:g.38178932A>G			Somatic				RMDN2_ENST00000402091.3_Missense_Mutation_p.T192A|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.T192A	p.T192A			WXS	Illumina GAIIx	Phase_I					2	721	+								A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	c.574A>G	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	A	8.950	0.968017	0.18659	.	.	ENSG00000115841	ENST00000407257;ENST00000234195;ENST00000402091	T;T	0.61510	0.11;0.1	4.32	-4.02	0.04034	.	1.773640	0.03671	N	0.243989	T	0.36799	0.0980	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.31641	-0.9936	10	0.87932	D	0	-10.5214	4.0291	0.09701	0.282:0.0:0.4066:0.3114	.	192	Q96LZ7-2	.	A	192	ENSP00000385049:T192A;ENSP00000234195:T192A	ENSP00000234195:T192A	T	+	1	0	FAM82A1	38032436	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.405000	0.07196	-0.623000	0.05618	0.533000	0.62120	ACA		0.333	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		39	39	0	0	0	1	0	39	39					G	38178932	A	G	38178932	1	3	44	0	1	0	0	0	0	0	0	0	5638	43	2	4		4	FAM82A1	2	38178932	Intron	SNP	A	TCGA-NA-A4R1-01A-11D-A28R-08		38178932	205020441	24	4109										
CYP1B1	1545	broad.mit.edu	37	chr2	38301893	38301893	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tcggggtcgtcgtggctgtaGcggcagccgaaacacacggc	16	12	0	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:38301893G>A	ENST00000260630.3	-	2	1040	c.639C>T	c.(637-639)cgC>cgT	p.R213R	CYP1B1_ENST00000407341.1_Silent_p.R213R|CYP1B1-AS1_ENST00000431999.1_RNA|CYP1B1_ENST00000494864.1_Intron|CYP1B1-AS1_ENST00000589303.1_RNA	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	213					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	CGTGGCTGTAGCGGCAGCCGA	0.701																																						ENST00000260630.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13						c.(637-639)cgC>cgT		cytochrome P450, family 1, subfamily B, polypeptide 1	Estrone(DB00655)						9	11	11					2																	38301893		2166	4242	6408	SO:0001819	synonymous_variant	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38301893G>A	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"Cytochrome P450s"	2597	protein-coding gene	gene with protein product		601771	"cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.639C>T	2.37:g.38301893G>A			Somatic				CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Silent_p.R213R	p.R213R	NM_000104.3	NP_000095.2	WXS	Illumina GAIIx	Phase_I	Q16678	CP1B1_HUMAN			2	1040	-		all_hematologic(82;0.21)	213					Q5TZW8|Q93089|Q9H316	Silent	SNP	ENST00000260630.3	37	c.639C>T	CCDS1793.1																																																																																				0.701	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		4	14	0	0	0	1	0	4	14					A	38301893	G	A	38301893	2	1	44	1	0	0	0	0	0	0	0	1	4153	958	34	3		3	CYP1B1	2	38301893	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	122961	38301893	204897480	25	4110										
LHCGR	3973	broad.mit.edu	37	chr2	48925846	48925846	+	Frame_Shift_Del	DEL	T	T	-													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	aatgtttctcttgatggcaaTttttttagagaataggatga							TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:48925846delT	ENST00000294954.7	-	9	795	c.774delA	c.(772-774)aaafs	p.K258fs	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Intron|LHCGR_ENST00000403273.1_Frame_Shift_Del_p.K258fs|LHCGR_ENST00000405626.1_Frame_Shift_Del_p.K258fs|LHCGR_ENST00000401907.1_Frame_Shift_Del_p.K258fs	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	258					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)			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)	TTGATGGCAATTTTTTTAGAG	0.453																																						ENST00000294954.7																			0				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.(772-774)aafs		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						101	104	103					2																	48925846		2203	4300	6503	SO:0001589	frameshift_variant	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48925846delT		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.774delA	2.37:g.48925846delT	ENSP00000294954:p.Lys258fs		Somatic				LHCGR_ENST00000405626.1_Frame_Shift_Del_p.K258fs|LHCGR_ENST00000403273.1_Frame_Shift_Del_p.K258fs|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Frame_Shift_Del_p.K258fs|LHCGR_ENST00000344775.3_Intron	p.K258fs	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)		9	795	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	258					Q14751|Q15996|Q9UEW9	Frame_Shift_Del	DEL	ENST00000294954.7	37	c.774delA	CCDS1842.1																																																																																				0.453	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		14	42						14	42	---	---	---	---	-	48925846	T	-	48925846	7	5	44	1	0	1	0	1	0	0	0	0	8771	1490	52	0	1337	0	LHCGR	2	48925846	Frame_Shift_Del	DEL	T	TCGA-NA-A4R1-01A-11D-A28R-08	10623953	48925846	194273527	26	4111										
NRXN1	9378	broad.mit.edu	37	chr2	51254739	51254739	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tccgttgaggcacaccccgcCctcgccctcctcgcccgcct	8	23	0	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:51254739C>A	ENST00000406316.2	-	2	2149	c.673G>T	c.(673-675)Ggc>Tgc	p.G225C	NRXN1_ENST00000405472.3_Missense_Mutation_p.G225C|NRXN1_ENST00000402717.3_Missense_Mutation_p.G225C|NRXN1_ENST00000405581.1_Missense_Mutation_p.G225C|NRXN1_ENST00000401669.2_Missense_Mutation_p.G225C|NRXN1_ENST00000404971.1_Missense_Mutation_p.G225C|NRXN1_ENST00000406859.3_Missense_Mutation_p.G225C	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	225	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CACACCCCGCCCTCGCCCTCC	0.716																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(673-675)Ggc>Tgc		neurexin 1							13	18	16					2																	51254739		2120	4214	6334	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51254739C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.673G>T	2.37:g.51254739C>A	ENSP00000384311:p.Gly225Cys		Somatic				NRXN1_ENST00000405472.3_Missense_Mutation_p.G225C|NRXN1_ENST00000401669.2_Missense_Mutation_p.G225C|NRXN1_ENST00000402717.3_Missense_Mutation_p.G225C|NRXN1_ENST00000406859.3_Missense_Mutation_p.G225C|NRXN1_ENST00000405581.1_Missense_Mutation_p.G225C|NRXN1_ENST00000406316.2_Missense_Mutation_p.G225C	p.G225C	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)		2	2012	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	225			EGF-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.673G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511197	0.64522	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.70631	0.49;0.49;-0.5;0.49;-0.11;0.49;0.49	5.69	4.79	0.61399	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.539313	0.12359	U	0.475804	T	0.77618	0.4157	L	0.45137	1.4	0.24696	N	0.993286	B;P;D	0.56968	0.435;0.531;0.978	P;B;P	0.57776	0.482;0.428;0.827	T	0.70059	-0.4976	10	0.59425	D	0.04	.	16.4493	0.83974	0.0:0.8686:0.1314:0.0	.	225;225;225	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	C	225	ENSP00000385142:G225C;ENSP00000384311:G225C;ENSP00000434015:G225C;ENSP00000385017:G225C;ENSP00000385434:G225C;ENSP00000385681:G225C;ENSP00000385310:G225C	ENSP00000385017:G225C	G	-	1	0	NRXN1	51108243	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	3.897000	0.56273	1.345000	0.45676	0.563000	0.77884	GGC		0.716	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			7	8	1	0	0.00198382	1	0.00200623	7	8					A	51254739	C	A	51254739	3	1	44	1	0	0	0	0	1	0	0	0	10674	623	22	5	4325	5	NRXN1	2	51254739	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	2328893	51254739	191944634	27	4112										
TEKT4	150483	broad.mit.edu	37	chr2	95537621	95537621	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gagcgactgcaggacacgcaCagctggaagtcggagctgca	15	11	0	0	rs566487874		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:95537621C>T	ENST00000295201.4	+	1	434	c.297C>T	c.(295-297)caC>caT	p.H99H	TEKT4_ENST00000427593.2_Silent_p.H99H|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	99					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGGACACGCACAGCTGGAAGT	0.687													.|||	1	0.000199681	8e-04	0	5008	,	,		17334	0		0	False		,,,				2504	0					ENST00000295201.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(295-297)caC>caT		tektin 4							15	14	15					2																	95537621		2192	4289	6481	SO:0001819	synonymous_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537621C>T	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.297C>T	2.37:g.95537621C>T			Somatic				AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Silent_p.H99H	p.H99H	NM_144705.2	NP_653306.1	WXS	Illumina GAIIx	Phase_I	Q8WW24	TEKT4_HUMAN			1	434	+			99						Silent	SNP	ENST00000295201.4	37	c.297C>T	CCDS2005.1																																																																																				0.687	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		3	16	0	0	0	1	0	3	16					T	95537621	C	T	95537621	2	4	44	1	0	0	0	0	0	0	0	1	15770	477	17	3		3	TEKT4	2	95537621	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	44282882	95537621	147661752	28	4113										
PTPN18	26469	broad.mit.edu	37	chr2	131116491	131116491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ctgacggcgtgtgctccaccGtggccggcagtcggccagag	16	14	0	2	rs11892325	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:131116491G>A	ENST00000175756.5	+	2	246	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	49	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					GTGCTCCACCGTGGCCGGCAG	0.627													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		21497	0		0	False		,,,				2504	0					ENST00000175756.5																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(145-147)Gtg>Atg		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)		G	,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	86	86	86		,145	-0.5	0	2	dbSNP_120	86	0,8600		0,0,4300	yes	intron,missense	PTPN18	NM_001142370.1,NM_014369.3	,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign	,49/461	131116491	1,13005	2203	4300	6503	SO:0001583	missense	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131116491G>A	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.145G>A	2.37:g.131116491G>A	ENSP00000175756:p.Val49Met		Somatic				PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	p.V49M	NM_014369.3	NP_055184.2	WXS	Illumina GAIIx	Phase_I	Q99952	PTN18_HUMAN			2	246	+	Colorectal(110;0.1)		49			Tyrosine-protein phosphatase.		B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	c.145G>A	CCDS2161.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	8.769	0.925447	0.18056	2.27E-4	0.0	ENSG00000072135	ENST00000175756;ENST00000409022	T	0.11712	2.75	3.55	-0.508	0.11980	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.754568	0.10837	N	0.628625	T	0.06826	0.0174	L	0.31371	0.925	0.09310	N	1	B;B	0.25667	0.131;0.022	B;B	0.08055	0.003;0.001	T	0.32322	-0.9911	10	0.51188	T	0.08	.	5.2258	0.15393	0.3156:0.154:0.5304:0.0	rs11892325	49;49	E7EMB8;Q99952	.;PTN18_HUMAN	M	49	ENSP00000175756:V49M	ENSP00000175756:V49M	V	+	1	0	PTPN18	130832961	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	0.037000	0.13840	-0.379000	0.07906	-1.134000	0.01955	GTG		0.627	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			44	68	0	0	0	1	0	44	68					A	131116491	G	A	131116491	3	1	44	1	0	0	0	0	1	0	0	0	12797	1145	40	1	151	1	PTPN18	2	131116491	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	35578870	131116491	112082882	29	4114										
KYNU	8942	broad.mit.edu	37	chr2	143718291	143718291	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	agtggggtgcatttttacacTggacagcactttaatattcc	9	8	0	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:143718291T>C	ENST00000264170.4	+	8	939	c.681T>C	c.(679-681)acT>acC	p.T227T	KYNU_ENST00000375773.2_Silent_p.T227T|KYNU_ENST00000409512.1_Silent_p.T227T	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		ATTTTTACACTGGACAGCACT	0.428																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(679-681)acT>acC		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						137	134	135					2																	143718291		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:143718291T>C	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.681T>C	2.37:g.143718291T>C			Somatic				KYNU_ENST00000409512.1_Silent_p.T227T|KYNU_ENST00000375773.2_Silent_p.T227T	p.T227T	NM_003937.2	NP_003928.1	WXS	Illumina GAIIx	Phase_I	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	8	939	+			227						Silent	SNP	ENST00000264170.4	37	c.681T>C	CCDS2183.1																																																																																				0.428	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		14	56	0	0	0	1	0	14	56					C	143718291	T	C	143718291	2	2	44	1	0	0	0	0	0	0	0	1	8596	1567	55	4		4	KYNU	2	143718291	Silent	SNP	T	TCGA-NA-A4R1-01A-11D-A28R-08	12601800	143718291	99481082	30	4115										
NEUROD1	4760	broad.mit.edu	37	chr2	182543459	182543459	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tcctctgcgttcatggtttcGaggtcgtcctccttcttgtc	9	13	3	0	rs116321775	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:182543459G>A	ENST00000295108.3	-	2	586	c.129C>T	c.(127-129)ctC>ctT	p.L43L	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	43					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCATGGTTTCGAGGTCGTCCT	0.582																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(127-129)ctC>ctT		neuronal differentiation 1							122	95	104					2																	182543459		2203	4300	6503	SO:0001819	synonymous_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182543459G>A	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"Basic helix-loop-helix proteins"	7762	protein-coding gene	gene with protein product	"beta-cell E-box transactivator 2", "neurogenic helix-loop-helix protein NEUROD"	601724	"neurogenic differentiation 1"	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.129C>T	2.37:g.182543459G>A			Somatic				NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	p.L43L	NM_002500.4	NP_002491.2	WXS	Illumina GAIIx	Phase_I	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	586	-			43					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Silent	SNP	ENST00000295108.3	37	c.129C>T	CCDS2283.1																																																																																				0.582	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		28	15	0	0	0	1	0	28	15					A	182543459	G	A	182543459	2	1	44	1	0	0	0	0	0	0	0	1	10357	1045	37	1		1	NEUROD1	2	182543459	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	38825168	182543459	60655914	31	4116										
SH3BP4	23677	broad.mit.edu	37	chr2	235950972	235950972	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	acccaaccctgccccggtggCcctgcagctgtgggggaagc	14	16	0	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:235950972C>T	ENST00000409212.1	+	4	2066	c.1559C>T	c.(1558-1560)gCc>gTc	p.A520V	SH3BP4_ENST00000344528.4_Missense_Mutation_p.A520V|SH3BP4_ENST00000392011.2_Missense_Mutation_p.A520V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	520					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCCCCGGTGGCCCTGCAGCTG	0.567																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(1558-1560)gCc>gTc		SH3-domain binding protein 4							60	63	62					2																	235950972		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235950972C>T	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1559C>T	2.37:g.235950972C>T	ENSP00000386862:p.Ala520Val		Somatic				SH3BP4_ENST00000344528.4_Missense_Mutation_p.A520V|SH3BP4_ENST00000392011.2_Missense_Mutation_p.A520V	p.A520V			WXS	Illumina GAIIx	Phase_I	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	2066	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	520					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.1559C>T	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	C	0.768	-0.766909	0.02974	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528	T;T;T	0.08370	3.1;3.1;3.1	4.99	4.99	0.66335	.	0.454423	0.24309	N	0.039642	T	0.05410	0.0143	N	0.12569	0.235	0.45183	D	0.998192	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.31336	-0.9947	10	0.08599	T	0.76	-22.0403	16.8316	0.85946	0.0:1.0:0.0:0.0	.	520;520	A8K594;Q9P0V3	.;SH3B4_HUMAN	V	520	ENSP00000375867:A520V;ENSP00000386862:A520V;ENSP00000340237:A520V	ENSP00000340237:A520V	A	+	2	0	SH3BP4	235615711	1.000000	0.71417	0.392000	0.26245	0.159000	0.22180	5.779000	0.68948	2.306000	0.77630	0.591000	0.81541	GCC		0.567	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			12	47	0	0	0	1	0	12	47					T	235950972	C	T	235950972	3	4	44	1	0	0	0	0	1	0	0	0	14261	739	26	3	1565	3	SH3BP4	2	235950972	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	53407513	235950972	7248401	32	4117										
PASK	23178	broad.mit.edu	37	chr2	242078093	242078093	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ctctggaaagcgacccaggtCgagaccctctccacgggctc	11	16	2	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:242078093C>T	ENST00000405260.1	-	5	1415	c.717G>A	c.(715-717)tcG>tcA	p.S239S	PASK_ENST00000544142.1_Silent_p.S53S|PASK_ENST00000403638.3_Silent_p.S239S|PASK_ENST00000358649.4_Silent_p.S239S|PASK_ENST00000234040.4_Silent_p.S239S|PASK_ENST00000539818.1_Silent_p.S23S	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	239					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)		CGACCCAGGTCGAGACCCTCT	0.602																																						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.(715-717)tcG>tcA		PAS domain containing serine/threonine kinase							100	88	92					2																	242078093		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242078093C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.717G>A	2.37:g.242078093C>T			Somatic				PASK_ENST00000539818.1_Silent_p.S23S|PASK_ENST00000405260.1_Silent_p.S239S|PASK_ENST00000544142.1_Silent_p.S53S|PASK_ENST00000234040.4_Silent_p.S239S|PASK_ENST00000358649.4_Silent_p.S239S	p.S239S	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)	5	808	-		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)	239					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.717G>A	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	2.960	-0.214868	0.06101	.	.	ENSG00000115687	ENST00000433589	.	.	.	4.65	-9.29	0.00653	.	.	.	.	.	T	0.33118	0.0852	.	.	.	0.44221	D	0.997051	.	.	.	.	.	.	T	0.38628	-0.9652	4	.	.	.	.	1.5242	0.02522	0.3861:0.1697:0.0843:0.3599	.	.	.	.	Q	54	.	.	R	-	2	0	PASK	241726766	0.000000	0.05858	0.677000	0.29947	0.158000	0.22134	-4.584000	0.00212	-2.296000	0.00662	-1.564000	0.00881	CGA		0.602	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		32	50	0	0	0	1	0	32	50					T	242078093	C	T	242078093	2	4	44	1	0	0	0	0	0	0	0	1	11481	871	31	1		1	PASK	2	242078093	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	6127121	242078093	1121280	33	4118										
DLEC1	9940	broad.mit.edu	37	chr3	38139340	38139340	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ggaacgtcagccagctcccaGccacatggcgcatgaaggag	13	13	1	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:38139340G>A	ENST00000308059.6	+	18	2692	c.2671G>A	c.(2671-2673)Gcc>Acc	p.A891T	DLEC1_ENST00000452631.2_Missense_Mutation_p.A891T|DLEC1_ENST00000346219.3_Missense_Mutation_p.A891T					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)		CCAGCTCCCAGCCACATGGCG	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.(2671-2673)Gcc>Acc		deleted in lung and esophageal cancer 1							57	64	62					3																	38139340		2143	4261	6404	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38139340G>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.2671G>A	3.37:g.38139340G>A	ENSP00000308597:p.Ala891Thr		Somatic				DLEC1_ENST00000452631.2_Missense_Mutation_p.A891T|DLEC1_ENST00000346219.3_Missense_Mutation_p.A891T	p.A891T			WXS	Illumina GAIIx	Phase_I	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	18	2692	+			891						Missense_Mutation	SNP	ENST00000308059.6	37	c.2671G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823788	0.90873	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06933	3.25;3.24;3.47	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000001	T	0.29158	0.0725	M	0.76328	2.33	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.993;0.995;0.991	T	0.00912	-1.1517	9	.	.	.	-23.8952	16.1178	0.81321	0.0:0.0:1.0:0.0	.	891;891;891	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	T	891	ENSP00000308597:A891T;ENSP00000315914:A891T;ENSP00000410427:A891T	.	A	+	1	0	DLEC1	38114344	1.000000	0.71417	0.099000	0.21106	0.194000	0.23727	6.487000	0.73633	2.414000	0.81942	0.462000	0.41574	GCC		0.597	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		37	0	0	0	0	1	0	37	0					A	38139340	G	A	38139340	3	1	44	1	0	0	0	0	1	0	0	0	4554	971	34	3	2741	3	DLEC1	3	38139340	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08		38139340	159883090	34	4119										
MAGI1	9223	broad.mit.edu	37	chr3	65342632	65342632	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ttgggttgtctgctatactcTctgctgcctttcggatccct	9	12	2	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:65342632T>C	ENST00000402939.2	-	23	3809	c.3810A>G	c.(3808-3810)agA>agG	p.R1270R	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	1299					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)		TGCTATACTCTCTGCTGCCTT	0.587																																						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.(3808-3810)agA>agG		membrane associated guanylate kinase, WW and PDZ domain containing 1							161	150	154					3																	65342632		2203	4300	6503	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342632T>C	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.3810A>G	3.37:g.65342632T>C			Somatic				MAGI1_ENST00000330909.8_3'UTR	p.R1270R	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	3809	-		Lung NSC(201;0.0016)	1299					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000402939.2	37	c.3810A>G	CCDS33780.1																																																																																				0.587	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		31	83	0	0	0	1	0	31	83					C	65342632	T	C	65342632	2	2	44	1	0	0	0	0	0	0	0	1	9199	1548	54	4		4	MAGI1	3	65342632	Silent	SNP	T	TCGA-NA-A4R1-01A-11D-A28R-08	27203292	65342632	132679798	35	4120										
TMF1	7110	broad.mit.edu	37	chr3	69093748	69093748	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	cattcagaaattcaactgtcTggataaggcgaatacataaa	7	7	3	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:69093748T>C	ENST00000398559.2	-	3	1564		c.e3-2		CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Splice_Site|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000598783.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1						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)		TTCAACTGTCTGGATAAGGCG	0.348																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.e3-2		TATA element modulatory factor 1							75	75	75					3																	69093748		1805	4071	5876	SO:0001630	splice_region_variant	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69093748T>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.1348-2A>G	3.37:g.69093748T>C			Somatic				CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000398559.2_Splice_Site|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA		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)	3	1603	-		Lung NSC(201;0.0193)|Prostate(884;0.174)						B7ZLJ2|Q17R87|Q59GK0	Splice_Site	SNP	ENST00000398559.2	37		CCDS43105.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.544374	0.65198	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248;ENST00000438636	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9748	0.80054	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMF1	69176438	1.000000	0.71417	0.993000	0.49108	0.820000	0.46376	7.119000	0.77145	2.183000	0.69458	0.477000	0.44152	.		0.348	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114	Intron	6	19	0	0	0	1	0	6	19					C	69093748	T	C	69093748	5	2	44	1	0	0	0	0	0	0	1	0	16243	1594	55	4	1995	4	TMF1	3	69093748	Splice_Site	SNP	T	TCGA-NA-A4R1-01A-11D-A28R-08	3751116	69093748	128928682	36	4121										
KALRN	8997	broad.mit.edu	37	chr3	124157839	124157840	+	Frame_Shift_Ins	INS	-	-	C													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	cagagatcgaccatgtcattINScccctcatcagcaaacattt							TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:124157839_124157840insC	ENST00000240874.3	+	18	3304_3305	c.3147_3148insC	c.(3148-3150)cccfs	p.P1050fs	KALRN_ENST00000360013.3_Frame_Shift_Ins_p.P1050fs|KALRN_ENST00000460856.1_Frame_Shift_Ins_p.P1041fs	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1050					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						ACCATGTCATTCCCCTCATCAG	0.525																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(3145-3150)atccctfs		kalirin, RhoGEF kinase																																				SO:0001589	frameshift_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.chr3:124157839_124157840insC	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3151dupC	3.37:g.124157843_124157843dupC	ENSP00000240874:p.Pro1050fs		Somatic				KALRN_ENST00000240874.3_Frame_Shift_Ins_p.IP1049fs|KALRN_ENST00000460856.1_Frame_Shift_Ins_p.IP1040fs	p.IP1049fs	NM_001024660.3	NP_001019831.2	WXS	Illumina GAIIx	Phase_I	O60229	KALRN_HUMAN			18	3274_3275	+			1049					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Frame_Shift_Ins	INS	ENST00000240874.3	37	c.3147_3148insC	CCDS3027.1																																																																																				0.525	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		24	27						24	27	---	---	---	---	C	124157840	-	C	124157839	7	5	44	1	0	1	1	0	0	0	0	0	7984	1771	62	0	3217	0	KALRN	3	124157839	Frame_Shift_Ins	INS	-	TCGA-NA-A4R1-01A-11D-A28R-08	55064091	124157839	73864591	37	4122										
HTR3E	285242	broad.mit.edu	37	chr3	183818194	183818194	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ttttatcacgggcgaccccaCgccctgccttggggcccctc	10	18	1	0	rs142990158	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:183818194C>T	ENST00000415389.2	+	2	533				HTR3E_ENST00000440596.2_Missense_Mutation_p.R12C|HTR3E_ENST00000425359.2_Intron|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Missense_Mutation_p.R12C|HTR3E_ENST00000335304.2_Missense_Mutation_p.R12C	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic						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)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GGCGACCCCACGCCCTGCCTT	0.478																																					Melanoma(7;227 727 6634 44770)	ENST00000335304.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(34-36)Cgc>Tgc		5-hydroxytryptamine (serotonin) receptor 3E, ionotropic		G	CYS/ARG	1,4405		0,1,2202	114	118	117		34	2.5	0	3	dbSNP_134	117	1,8599		0,1,4299	no	missense	HTR3E	NM_182589.2	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	12/472	183818194	2,13004	2203	4300	6503	SO:0001627	intron_variant	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183818194C>T	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24005	protein-coding gene	gene with protein product		610123	"5-hydroxytryptamine (serotonin) receptor 3, family member E"			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.68-79C>T	3.37:g.183818194C>T			Somatic				HTR3E_ENST00000440596.2_Missense_Mutation_p.R12C|HTR3E_ENST00000415389.2_Intron|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Missense_Mutation_p.R12C|HTR3E_ENST00000425359.2_Intron	p.R12C	NM_182589.2|NM_198314.2	NP_872395.2|NP_938056.1	WXS	Illumina GAIIx	Phase_I	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		1	228	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		0					A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	c.34C>T	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	N	16.15	3.042466	0.55003	2.27E-4	1.16E-4	ENSG00000186038	ENST00000335304;ENST00000436361;ENST00000440596	T;T;T	0.80566	-1.39;-1.27;-1.3	3.36	2.45	0.29901	.	5.490200	0.01921	U	0.040488	T	0.70842	0.3270	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.54977	-0.8212	10	0.46703	T	0.11	.	6.037	0.19712	0.0:0.2119:0.5693:0.2188	.	12;12;12	E9PGF1;A5X5Y0-4;A5X5Y0-3	.;.;.	C	12	ENSP00000335511:R12C;ENSP00000395833:R12C;ENSP00000406050:R12C	ENSP00000335511:R12C	R	+	1	0	HTR3E	185300888	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	0.008000	0.13197	0.229000	0.21039	-0.120000	0.15030	CGC		0.478	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		50	58	0	0	0	1	0	50	58					T	183818194	C	T	183818194	1	4	44	0	1	0	0	0	0	0	0	0	7457	536	19	1		1	HTR3E	3	183818194	Intron	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	59660355	183818194	14204236	38	4123										
LPP	4026	broad.mit.edu	37	chr3	188590444	188590444	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ctttcaggaaatttgccccgCgatgttctgtgtgcaaggag	12	9	2	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:188590444C>T	ENST00000312675.4	+	10	1849	c.1603C>T	c.(1603-1605)Cga>Tga	p.R535*	LPP_ENST00000543006.1_Nonsense_Mutation_p.R535*	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	535	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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)		ATTTGCCCCGCGATGTTCTGT	0.527			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.(1603-1605)Cga>Tga		LIM domain containing preferred translocation partner in lipoma							133	124	127					3																	188590444		2203	4300	6503	SO:0001587	stop_gained	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188590444C>T	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1603C>T	3.37:g.188590444C>T	ENSP00000318089:p.Arg535*		Somatic				LPP_ENST00000543006.1_Nonsense_Mutation_p.R535*	p.R535*	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)	10	1849	+	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)	535			LIM zinc-binding 3.		A1L4L6|D3DNV6|Q8NFX5	Nonsense_Mutation	SNP	ENST00000312675.4	37	c.1603C>T	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	C	40	8.255283	0.98729	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	12.1206	0.53889	0.2713:0.7287:0.0:0.0	.	.	.	.	X	535	.	ENSP00000318089:R535X	R	+	1	2	LPP	190073138	0.998000	0.40836	0.974000	0.42286	0.973000	0.67179	3.891000	0.56227	2.603000	0.88011	0.655000	0.94253	CGA		0.527	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		46	2	0	0	0	1	0	46	2					T	188590444	C	T	188590444	4	4	44	1	0	0	0	0	0	1	0	0	8932	760	27	1	1633	1	LPP	3	188590444	Nonsense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	4772250	188590444	9431986	39	4124										
SORCS2	57537	broad.mit.edu	37	chr4	7725501	7725501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tacgtgaaccttacactgacCggggagcccatccggcaccg	11	15	0	2	rs566460730	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:7725501C>T	ENST00000507866.2	+	19	2611	c.2502C>T	c.(2500-2502)acC>acT	p.T834T	SORCS2_ENST00000329016.9_Silent_p.T662T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	834	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TTACACTGACCGGGGAGCCCA	0.612													C|||	2	0.000399361	0	0	5008	,	,		17345	0.001		0.001	False		,,,				2504	0					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.(2500-2502)acC>acT		sortilin-related VPS10 domain containing receptor 2							129	131	130					4																	7725501		2078	4198	6276	SO:0001819	synonymous_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7725501C>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.2502C>T	4.37:g.7725501C>T			Somatic				SORCS2_ENST00000329016.9_Silent_p.T662T	p.T834T	NM_020777.2	NP_065828.2	WXS	Illumina GAIIx	Phase_I	Q96PQ0	SORC2_HUMAN			19	2611	+			834			PKD.		Q9P2L7	Silent	SNP	ENST00000507866.2	37	c.2502C>T	CCDS47008.1																																																																																				0.612	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		32	4	0	0	0	1	0	32	4					T	7725501	C	T	7725501	2	4	44	1	0	0	0	0	0	0	0	1	14946	639	23	1		1	SORCS2	4	7725501	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08		7725501	183428775	40	4125										
SULT1B1	27284	broad.mit.edu	37	chr4	70620807	70620807	+	Frame_Shift_Del	DEL	T	T	-													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	cctgatttaggataagtggcTatcacaatgtcatctggtct							TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:70620807delT	ENST00000310613.3	-	2	426	c.129delA	c.(127-129)atafs	p.I43fs		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	43					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GATAAGTGGCTATCACAATGT	0.408																																						ENST00000310613.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(127-129)atfs		sulfotransferase family, cytosolic, 1B, member 1							165	159	161					4																	70620807		2203	4300	6503	SO:0001589	frameshift_variant	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70620807delT	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"Sulfotransferases, cytosolic"	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.129delA	4.37:g.70620807delT	ENSP00000308770:p.Ile43fs		Somatic					p.I43fs	NM_014465.3	NP_055280.2	WXS	Illumina GAIIx	Phase_I	O43704	ST1B1_HUMAN			2	426	-			43					O15497|Q96FI1|Q9UK34	Frame_Shift_Del	DEL	ENST00000310613.3	37	c.129delA	CCDS3530.1																																																																																				0.408	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		64	49						64	49	---	---	---	---	-	70620807	T	-	70620807	7	5	44	1	0	1	0	1	0	0	0	0	15391	1512	53	0	789	0	SULT1B1	4	70620807	Frame_Shift_Del	DEL	T	TCGA-NA-A4R1-01A-11D-A28R-08	62895306	70620807	120533469	41	4126										
METTL14	57721	broad.mit.edu	37	chr4	119621741	119621741	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ttgatgagattgcagcacctCgatcatttatttttctctgg	8	8	2	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:119621741C>T	ENST00000388822.5	+	8	849	c.682C>T	c.(682-684)Cga>Tga	p.R228*	METTL14_ENST00000506780.1_Nonsense_Mutation_p.R190*			Q9HCE5	MET14_HUMAN	methyltransferase like 14	228					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						TGCAGCACCTCGATCATTTAT	0.338																																						ENST00000388822.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						c.(682-684)Cga>Tga		methyltransferase like 14							150	147	148					4																	119621741		2203	4300	6503	SO:0001587	stop_gained	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119621741C>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.682C>T	4.37:g.119621741C>T	ENSP00000373474:p.Arg228*		Somatic				METTL14_ENST00000506780.1_Nonsense_Mutation_p.R190*	p.R228*			WXS	Illumina GAIIx	Phase_I	Q9HCE5	MTL14_HUMAN			8	849	+			228					A6NIG1|Q969V2	Nonsense_Mutation	SNP	ENST00000388822.5	37	c.682C>T	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	c	36	5.773911	0.96922	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	.	.	.	4.27	3.34	0.38264	.	0.055407	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6501	11.7375	0.51773	0.3178:0.6822:0.0:0.0	.	.	.	.	X	228;190	.	ENSP00000373474:R228X	R	+	1	2	METTL14	119841189	0.987000	0.35691	0.995000	0.50966	0.994000	0.84299	2.448000	0.44926	2.117000	0.64856	0.467000	0.42956	CGA		0.338	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		24	31	0	0	0	1	0	24	31					T	119621741	C	T	119621741	4	4	44	1	0	0	0	0	0	1	0	0	9507	876	31	1	712	1	METTL14	4	119621741	Nonsense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	49000934	119621741	71532535	42	4127										
C4orf31	79625	broad.mit.edu	37	chr4	121957767	121957767	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	cggagcttgtcaaaggctttGattcttgtgtcttcaggaag	12	7	4	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:121957767G>A	ENST00000379692.4	-	4	1885	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	453	Fibronectin type-III 2.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CAAAGGCTTTGATTCTTGTGT	0.448																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(1357-1359)atC>atT		neuron-derived neurotrophic factor							172	164	167					4																	121957767		2203	4300	6503	SO:0001819	synonymous_variant	79625							g.chr4:121957767G>A	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 31"	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1359C>T	4.37:g.121957767G>A			Somatic					p.I453I	NM_024574.3	NP_078850.3	WXS	Illumina GAIIx	Phase_I	Q8TB73	CD031_HUMAN			4	1885	-			453			Fibronectin type-III 2.		A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	ENST00000379692.4	37	c.1359C>T	CCDS3717.2																																																																																				0.448	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		64	61	0	0	0	1	0	64	61					A	121957767	G	A	121957767	2	1	44	1	0	0	0	0	0	0	0	1	2263	1280	45	3		3	C4orf31	4	121957767	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	2336026	121957767	69196509	43	4128										
FGB	2244	broad.mit.edu	37	chr4	155487137	155487137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	atgctggaggctgtcttcacGctgacccagacctggtgggt	14	11	2	2	rs121909620		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:155487137G>A	ENST00000302068.4	+	2	355	c.292G>A	c.(292-294)Gct>Act	p.A98T	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	98			A -> T (in Naples and Milano-2; associated with defective thrombin binding and thrombophilia). {ECO:0000269|PubMed:1634610}.|Missing (in New York-1). {ECO:0000269|PubMed:3156856}.		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)	CTGTCTTCACGCTGACCCAGA	0.537																																					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	GRCh37	CM920275	FGB	M	rs121909620	c.(292-294)Gct>Act		fibrinogen beta chain	Sucralfate(DB00364)						37	34	35					4																	155487137		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.chr4:155487137G>A		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.292G>A	4.37:g.155487137G>A	ENSP00000306099:p.Ala98Thr		Somatic				FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	p.A98T	NM_005141.4	NP_005132.2	WXS	Illumina GAIIx	Phase_I	P02675	FIBB_HUMAN			2	355	+	all_hematologic(180;0.215)	Renal(120;0.0458)	98		A -> T (in Naples and Milano-2; associated with defective thrombin binding and thrombophilia).|Missing (in New York-1).			A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.292G>A	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807499	0.70797	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	D	0.82081	-1.57	5.21	5.21	0.72293	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.283519	0.39020	N	0.001497	T	0.82084	0.4960	M	0.74881	2.28	0.80722	D	1	P	0.45715	0.865	B	0.38655	0.278	D	0.83406	0.0025	10	0.39692	T	0.17	.	16.1953	0.82023	0.0:0.1328:0.8672:0.0	.	98	P02675	FIBB_HUMAN	T	98;81	ENSP00000306099:A98T	ENSP00000306099:A98T	A	+	1	0	FGB	155706587	0.532000	0.26346	0.680000	0.29994	0.956000	0.61745	3.432000	0.52824	2.597000	0.87782	0.591000	0.81541	GCT		0.537	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		26	25	0	0	0	1	0	26	25					A	155487137	G	A	155487137	3	1	44	1	0	0	0	0	1	0	0	0	5839	1087	38	1	298	1	FGB	4	155487137	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	33529370	155487137	35667139	44	4129										
ODZ3	55714	broad.mit.edu	37	chr4	183721107	183721107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gctgcggttgaccagcggccGcaaggcgctggagaacggca	17	12	0	2	rs200859700	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:183721107G>A	ENST00000511685.1	+	28	7826	c.7703G>A	c.(7702-7704)cGc>cAc	p.R2568H	TENM3_ENST00000406950.2_Missense_Mutation_p.R2568H			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2568					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)										ACCAGCGGCCGCAAGGCGCTG	0.642													G|||	19	0.00379393	0.0136	0.0014	5008	,	,		11731	0		0	False		,,,				2504	0					ENST00000511685.1																			0											c.(7702-7704)cGc>cAc		teneurin transmembrane protein 3		G	HIS/ARG	56,4252		0,56,2098	22	27	26		7703	4.3	1	4		26	3,8495		0,3,4246	yes	missense	ODZ3	NM_001080477.1	29	0,59,6344	AA,AG,GG		0.0353,1.2999,0.4607	benign	2568/2700	183721107	59,12747	2154	4249	6403	SO:0001583	missense	55714							g.chr4:183721107G>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.7703G>A	4.37:g.183721107G>A	ENSP00000424226:p.Arg2568His		Somatic				TENM3_ENST00000406950.2_Missense_Mutation_p.R2568H	p.R2568H			WXS	Illumina GAIIx	Phase_I					28	7826	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.7703G>A	CCDS47165.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	14.01	2.407273	0.42715	0.012999	3.53E-4	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86769	-2.17;-2.17	4.35	4.35	0.52113	.	.	.	.	.	T	0.78886	0.4354	L	0.39245	1.2	0.58432	D	0.999998	B	0.09022	0.002	B	0.04013	0.001	T	0.78347	-0.2239	9	0.51188	T	0.08	.	17.4173	0.87504	0.0:0.0:1.0:0.0	.	2568	Q9P273	TEN3_HUMAN	H	2568	ENSP00000424226:R2568H;ENSP00000385276:R2568H	ENSP00000385276:R2568H	R	+	2	0	ODZ3	183958101	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.345000	0.72995	2.420000	0.82092	0.460000	0.39030	CGC		0.642	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			15	0	0	0	0	1	0	15	0					A	183721107	G	A	183721107	3	1	44	1	0	0	0	0	1	0	0	0	10845	1087	38	1	7809	1	ODZ3	4	183721107	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	28233970	183721107	7433169	45	4130										
FAT1	2195	broad.mit.edu	37	chr4	187509884	187509884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gacacgtcagagcaggaggcGgtggaggcgtacacagacat	16	9	1	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:187509884G>A	ENST00000441802.2	-	27	13838	c.13629C>T	c.(13627-13629)acC>acT	p.T4543T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4543					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						AGCAGGAGGCGGTGGAGGCGT	0.597										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.(13627-13629)acC>acT		FAT atypical cadherin 1							54	63	60					4																	187509884		2158	4250	6408	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.chr4:187509884G>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.13629C>T	4.37:g.187509884G>A		HNSCC(5;0.00058)	Somatic					p.T4543T	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	Q14517	FAT1_HUMAN			27	13838	-			4543						Silent	SNP	ENST00000441802.2	37	c.13629C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	5.218	0.225781	0.09916	.	.	ENSG00000083857	ENST00000512772	.	.	.	5.5	-10.8	0.00216	.	.	.	.	.	T	0.44008	0.1273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55711	-0.8098	4	.	.	.	.	6.9291	0.24432	0.1323:0.1362:0.1311:0.6004	.	.	.	.	C	323	.	.	R	-	1	0	FAT1	187746878	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-2.667000	0.00846	-3.209000	0.00215	-2.189000	0.00312	CGC		0.597	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		14	1	0	0	0	1	0	14	1					A	187509884	G	A	187509884	2	1	44	1	0	0	0	0	0	0	0	1	5697	1103	39	1		1	FAT1	4	187509884	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	3788777	187509884	3644392	46	4131										
PAPD7	11044	broad.mit.edu	37	chr5	6742670	6742670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	catcagctttaacatggagaCgggcgtccgggcagcggagt	15	10	1	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:6742670C>T	ENST00000230859.6	+	5	455	c.326C>T	c.(325-327)aCg>aTg	p.T109M		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	339	Ser-rich.				double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AACATGGAGACGGGCGTCCGG	0.468																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(325-327)aCg>aTg		PAP associated domain containing 7							82	81	81					5																	6742670		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6742670C>T	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.326C>T	5.37:g.6742670C>T	ENSP00000230859:p.Thr109Met		Somatic					p.T109M	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	WXS	Illumina GAIIx	Phase_I	Q5XG87	PAPD7_HUMAN			5	455	+			109					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.326C>T	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741536	0.89573	.	.	ENSG00000112941	ENST00000230859	T	0.43294	0.95	5.19	5.19	0.71726	Nucleotidyl transferase domain (1);	0.049407	0.85682	D	0.000000	T	0.58235	0.2108	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.58418	-0.7640	10	0.52906	T	0.07	-0.4407	16.911	0.86140	0.0:1.0:0.0:0.0	.	109;109	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	M	109	ENSP00000230859:T109M	ENSP00000230859:T109M	T	+	2	0	PAPD7	6795670	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	3.152000	0.50677	2.418000	0.82041	0.655000	0.94253	ACG		0.468	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		26	22	0	0	0	1	0	26	22					T	6742670	C	T	6742670	3	4	44	1	0	0	0	0	1	0	0	0	11435	536	19	1	340	1	PAPD7	5	6742670	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08		6742670	174172590	47	4132										
CTNND2	1501	broad.mit.edu	37	chr5	10981913	10981913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gtttgatgtcttcagcgggcGcaccataagaattcctatac	9	10	2	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:10981913G>A	ENST00000304623.8	-	21	3578	c.3389C>T	c.(3388-3390)gCg>gTg	p.A1130V	CTNND2_ENST00000503622.1_Missense_Mutation_p.A793V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A1039V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A1072V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.A697V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1130					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						TTCAGCGGGCGCACCATAAGA	0.343																																						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.(3388-3390)gCg>gTg		catenin (cadherin-associated protein), delta 2							161	157	158					5																	10981913		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.chr5:10981913G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3389C>T	5.37:g.10981913G>A	ENSP00000307134:p.Ala1130Val		Somatic				CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.A793V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A1039V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A1072V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A697V	p.A1130V	NM_001332.2	NP_001323.1	WXS	Illumina GAIIx	Phase_I	Q9UQB3	CTND2_HUMAN			21	3578	-			1130					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.3389C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851636	0.71719	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.77358	-0.96;-0.99;-0.95;-1.09;-1.09	6.04	6.04	0.98038	.	0.221881	0.47852	N	0.000219	T	0.62380	0.2423	N	0.08118	0	0.45822	D	0.99869	B;B;B	0.14438	0.001;0.0;0.01	B;B;B	0.06405	0.001;0.001;0.002	T	0.59375	-0.7466	10	0.59425	D	0.04	-16.8334	15.6292	0.76888	0.0669:0.0:0.9331:0.0	.	793;722;1130	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	V	1130;1072;1039;225;697;793	ENSP00000307134:A1130V;ENSP00000352661:A1072V;ENSP00000426510:A1039V;ENSP00000391155:A697V;ENSP00000426887:A793V	ENSP00000307134:A1130V	A	-	2	0	CTNND2	11034913	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	7.449000	0.80643	2.873000	0.98535	0.561000	0.74099	GCG		0.343	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		21	57	0	0	0	1	0	21	57					A	10981913	G	A	10981913	3	1	44	1	0	0	0	0	1	0	0	0	4022	1087	38	1	296	1	CTNND2	5	10981913	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	4239243	10981913	169933347	48	4133										
CHD1	1105	broad.mit.edu	37	chr5	98192247	98192247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	agtctgagtgatacctataaTccctggaagatttatggtgc	10	7	1	3			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:98192247T>C	ENST00000284049.3	-	35	5119	c.4970A>G	c.(4969-4971)gAt>gGt	p.D1657G		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1657					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)	ATACCTATAATCCCTGGAAGA	0.458																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(4969-4971)gAt>gGt		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						122	115	117					5																	98192247		2203	4299	6502	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.chr5:98192247T>C	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.4970A>G	5.37:g.98192247T>C	ENSP00000284049:p.Asp1657Gly		Somatic					p.D1657G	NM_001270.2	NP_001261.2	WXS	Illumina GAIIx	Phase_I	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	35	5119	-		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)	1657					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.4970A>G	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	T	9.427	1.084487	0.20309	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.90563	-2.69	5.55	5.55	0.83447	.	0.000000	0.34555	U	0.003862	D	0.93588	0.7953	L	0.58101	1.795	0.54753	D	0.999984	D	0.63880	0.993	D	0.68192	0.956	D	0.92491	0.6000	10	0.31617	T	0.26	.	15.692	0.77461	0.0:0.0:0.0:1.0	.	1657	O14646	CHD1_HUMAN	G	247;1657	ENSP00000284049:D1657G	ENSP00000284049:D1657G	D	-	2	0	CHD1	98220147	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.071000	0.71229	2.103000	0.63969	0.533000	0.62120	GAT		0.458	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		12	27	0	0	0	1	0	12	27					C	98192247	T	C	98192247	3	2	44	1	0	0	0	0	1	0	0	0	3325	1435	50	4	166	4	CHD1	5	98192247	Missense_Mutation	SNP	T	TCGA-NA-A4R1-01A-11D-A28R-08	87210334	98192247	82723013	49	4134										
C5orf15	56951	broad.mit.edu	37	chr5	133292586	133292586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ttggtaatcttcaaagaaggCattgcctcattaacattctg	7	8	4	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:133292586C>T	ENST00000231512.3	-	3	964	c.762G>A	c.(760-762)atG>atA	p.M254I	C5orf15_ENST00000507191.1_5'Flank	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	254						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			TCAAAGAAGGCATTGCCTCAT	0.338																																						ENST00000231512.3																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(760-762)atG>atA		chromosome 5 open reading frame 15							99	95	97					5																	133292586		2203	4300	6503	SO:0001583	missense	56951					integral to membrane		g.chr5:133292586C>T	AF226055	CCDS4167.1	5q31.1	2012-02-22			ENSG00000113583	ENSG00000113583			20656	protein-coding gene	gene with protein product	"keratinocytes associated transmembrane protein 2"						Standard	NM_020199		Approved	KCT2, HTGN29	uc003kyo.3	Q8NC54	OTTHUMG00000129125	ENST00000231512.3:c.762G>A	5.37:g.133292586C>T	ENSP00000231512:p.Met254Ile		Somatic					p.M254I	NM_020199.2	NP_064584.1	WXS	Illumina GAIIx	Phase_I	Q8NC54	KCT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		3	964	-			254					B2RD10|D3DQ92|Q9NRG2	Missense_Mutation	SNP	ENST00000231512.3	37	c.762G>A	CCDS4167.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637987	0.87760	.	.	ENSG00000113583	ENST00000231512;ENST00000451255	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	L	0.40543	1.245	0.58432	D	0.999998	D	0.53885	0.963	P	0.56788	0.806	T	0.64283	-0.6444	9	0.44086	T	0.13	-21.3365	17.6907	0.88268	0.0:1.0:0.0:0.0	.	254	Q8NC54	KCT2_HUMAN	I	254;154	.	ENSP00000231512:M254I	M	-	3	0	C5orf15	133320485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.272000	0.78516	2.441000	0.82636	0.650000	0.86243	ATG		0.338	C5orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251175.1	NM_020199		11	52	0	0	0	1	0	11	52					T	133292586	C	T	133292586	3	4	44	1	0	0	0	0	1	0	0	0	2285	710	25	3	39	3	C5orf15	5	133292586	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	35100339	133292586	47622674	50	4135										
SIL1	64374	broad.mit.edu	37	chr5	138456752	138456752	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	agggcctgccactcatgcgtCgggtggaacacctccaggac	13	14	1	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:138456752C>T	ENST00000394817.2	-	3	355	c.216G>A	c.(214-216)ccG>ccA	p.P72P	SIL1_ENST00000509534.1_Silent_p.P79P|SIL1_ENST00000265195.5_Silent_p.P72P	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	72	Interaction with HSPA5 and localization to the endoplasmic reticulum. {ECO:0000250}.				intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACTCATGCGTCGGGTGGAACA	0.547									Marinesco-Sjgren syndrome																													ENST00000394817.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(214-216)ccG>ccA		SIL1 nucleotide exchange factor							109	112	111					5																	138456752		2203	4300	6503	SO:0001819	synonymous_variant	64374	Marinesco-Sjgren syndrome	Familial Cancer Database	Marinesco-Sjogren syndrome	intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding	g.chr5:138456752C>T	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"Marinesco-Sjogren syndrome", "SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.216G>A	5.37:g.138456752C>T			Somatic				SIL1_ENST00000265195.5_Silent_p.P72P|SIL1_ENST00000509534.1_Silent_p.P79P	p.P72P	NM_022464.4	NP_071909.1	WXS	Illumina GAIIx	Phase_I	Q9H173	SIL1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		3	355	-			72			Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).		D3DQC2|Q8N2L3	Silent	SNP	ENST00000394817.2	37	c.216G>A	CCDS4209.1																																																																																				0.547	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251319.1	NM_022464		81	50	0	0	0	1	0	81	50					T	138456752	C	T	138456752	2	4	44	1	0	0	0	0	0	0	0	1	14336	871	31	1		1	SIL1	5	138456752	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	5164166	138456752	42458508	51	4136										
CD14	929	broad.mit.edu	37	chr5	140011859	140011859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gtgcggcgcacacgcctgtgGgcgtctccattcctgtgttg	14	13	1	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:140011859G>A	ENST00000302014.6	-	2	1339	c.710C>T	c.(709-711)cCc>cTc	p.P237L	CD14_ENST00000401743.2_Missense_Mutation_p.P237L	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	237					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)			CACGCCTGTGGGCGTCTCCAT	0.657																																						ENST00000302014.6																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(709-711)cCc>cTc		CD14 molecule							37	42	40					5																	140011859		2203	4298	6501	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.chr5:140011859G>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.710C>T	5.37:g.140011859G>A	ENSP00000304236:p.Pro237Leu		Somatic				CD14_ENST00000401743.2_Missense_Mutation_p.P237L	p.P237L	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	1339	-			237					Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	ENST00000302014.6	37	c.710C>T	CCDS4232.1	.	.	.	.	.	.	.	.	.	.	G	0.754	-0.771759	0.02951	.	.	ENSG00000170458	ENST00000302014;ENST00000401743	D;D	0.89343	-2.5;-2.5	5.96	-1.94	0.07571	.	1.422770	0.04548	N	0.389325	T	0.72179	0.3428	N	0.04260	-0.245	0.09310	N	0.999992	B	0.31730	0.337	B	0.27715	0.082	T	0.64032	-0.6502	10	0.02654	T	1	-5.9674	11.1575	0.48497	0.5483:0.0:0.4517:0.0	.	237	P08571	CD14_HUMAN	L	237	ENSP00000304236:P237L;ENSP00000385519:P237L	ENSP00000304236:P237L	P	-	2	0	CD14	139992043	0.000000	0.05858	0.010000	0.14722	0.313000	0.28021	-0.415000	0.07106	-0.289000	0.09038	0.655000	0.94253	CCC		0.657	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		22	76	0	0	0	1	0	22	76					A	140011859	G	A	140011859	3	1	44	1	0	0	0	0	1	0	0	0	2966	1232	43	3	421	3	CD14	5	140011859	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	1555107	140011859	40903401	52	4137										
PCDHA6	56142	broad.mit.edu	37	chr5	140209479	140209479	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	cgcgcagttgacgccgactcAggctacaacgcgtggctttc	12	14	1	1	rs201316180	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:140209479A>G	ENST00000529310.1	+	1	1917	c.1803A>G	c.(1801-1803)tcA>tcG	p.S601S	PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_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	601	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCCGACTCAGGCTACAACG	0.662													.|||	7	0.00139776	0	0	5008	,	,		16847	0.0069		0	False		,,,				2504	0					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.(1801-1803)tcA>tcG									85	86	86					5																	140209479		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140209479A>G	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.1803A>G	5.37:g.140209479A>G			Somatic				PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	p.S601S	NM_018909.2|NM_031848.1|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	1917	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1803A>G	CCDS47281.1																																																																																				0.662	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		5	215	0	0	0	1	0	5	215					G	140209479	A	G	140209479	2	3	44	1	0	0	0	0	0	0	0	1	11537	175	7	4		4	PCDHA6	5	140209479	Silent	SNP	A	TCGA-NA-A4R1-01A-11D-A28R-08	197620	140209479	40705781	53	4138										
PCDHB5	26167	broad.mit.edu	37	chr5	140515250	140515250	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	aaagagctcttgcagcttgaTataaagaccggcaatttgct	9	8	1	3			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:140515250T>A	ENST00000231134.5	+	1	451	c.234T>A	c.(232-234)gaT>gaA	p.D78E		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	78	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGCTTGATATAAAGACCG	0.502																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(232-234)gaT>gaA									63	70	68					5																	140515250		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515250T>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.234T>A	5.37:g.140515250T>A	ENSP00000231134:p.Asp78Glu		Somatic					p.D78E	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	451	+			78			Cadherin 1.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.234T>A	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.522307	0.27211	.	.	ENSG00000113209	ENST00000231134	T	0.18960	2.18	5.37	2.97	0.34412	Cadherin, N-terminal (1);Cadherin (2);	.	.	.	.	T	0.19446	0.0467	L	0.47190	1.495	0.09310	N	1	B	0.20052	0.041	B	0.26310	0.068	T	0.21314	-1.0249	9	0.54805	T	0.06	.	6.7433	0.23449	0.0:0.1391:0.1286:0.7323	.	78	Q9Y5E4	PCDB5_HUMAN	E	78	ENSP00000231134:D78E	ENSP00000231134:D78E	D	+	3	2	PCDHB5	140495434	0.000000	0.05858	0.006000	0.13384	0.792000	0.44763	-0.663000	0.05299	0.982000	0.38575	-0.389000	0.06534	GAT		0.502	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		37	59	0	0	0	1	0	37	59					A	140515250	T	A	140515250	3	1	44	1	0	0	0	0	1	0	0	0	11554	1403	49	4	236	4	PCDHB5	5	140515250	Missense_Mutation	SNP	T	TCGA-NA-A4R1-01A-11D-A28R-08	305771	140515250	40400010	54	4139										
NSD1	64324	broad.mit.edu	37	chr5	176721178	176721178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gctctccaaaaaagctctggCagggacttgtcagaggccat	11	11	3	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:176721178C>A	ENST00000439151.2	+	23	6854	c.6809C>A	c.(6808-6810)gCa>gAa	p.A2270E	NSD1_ENST00000347982.4_Missense_Mutation_p.A2001E|NSD1_ENST00000354179.4_Missense_Mutation_p.A2001E|NSD1_ENST00000361032.4_Missense_Mutation_p.A2167E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2270	Pro-rich.				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)		AAAGCTCTGGCAGGGACTTGT	0.532			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.(6808-6810)gCa>gAa		nuclear receptor binding SET domain protein 1							94	99	98					5																	176721178		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.chr5:176721178C>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.6809C>A	5.37:g.176721178C>A	ENSP00000395929:p.Ala2270Glu	HNSCC(47;0.14)	Somatic				NSD1_ENST00000347982.4_Missense_Mutation_p.A2001E|NSD1_ENST00000361032.4_Missense_Mutation_p.A2167E|NSD1_ENST00000354179.4_Missense_Mutation_p.A2001E	p.A2270E	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	6854	+	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)	2270			Pro-rich.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.6809C>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004497	0.35320	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93076	-3.05;-3.05;-3.05;-3.16	5.41	4.46	0.54185	.	0.764676	0.12232	N	0.487342	D	0.85720	0.5762	N	0.14661	0.345	0.25453	N	0.987983	B;B	0.32245	0.013;0.361	B;B	0.24155	0.013;0.051	T	0.77531	-0.2553	10	0.41790	T	0.15	.	12.7969	0.57564	0.0:0.9144:0.0:0.0856	.	2001;2270	Q96L73-2;Q96L73	.;NSD1_HUMAN	E	2001;2270;2001;2167	ENSP00000346111:A2001E;ENSP00000395929:A2270E;ENSP00000343209:A2001E;ENSP00000354310:A2167E	ENSP00000343209:A2001E	A	+	2	0	NSD1	176653784	0.732000	0.28121	0.979000	0.43373	0.963000	0.63663	1.125000	0.31332	2.826000	0.97356	0.655000	0.94253	GCA		0.532	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		104	109	1	0	1.53058e-52	1	1.7017e-52	104	109					A	176721178	C	A	176721178	3	1	44	1	0	0	0	0	1	0	0	0	10678	710	25	5	6895	5	NSD1	5	176721178	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	36205928	176721178	4194082	55	4140										
SLC25A27	9481	broad.mit.edu	37	chr6	46623609	46623609	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ccctggatctcacaaaaactCgactccaaatgcaaggagaa	7	12	1	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr6:46623609C>T	ENST00000371347.5	+	2	388	c.136C>T	c.(136-138)Cga>Tga	p.R46*	SLC25A27_ENST00000411689.2_Nonsense_Mutation_p.R46*|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	46					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)			CACAAAAACTCGACTCCAAAT	0.458																																						ENST00000371347.5																			0				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8						c.(136-138)Cga>Tga		solute carrier family 25, member 27							64	63	64					6																	46623609		1857	4106	5963	SO:0001587	stop_gained	9481				generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		g.chr6:46623609C>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.136C>T	6.37:g.46623609C>T	ENSP00000360398:p.Arg46*		Somatic				SLC25A27_ENST00000452689.2_5'UTR|SLC25A27_ENST00000411689.2_Nonsense_Mutation_p.R46*	p.R46*	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	388	+			46					F5GWR4|Q5VTS9|Q8N518	Nonsense_Mutation	SNP	ENST00000371347.5	37	c.136C>T	CCDS43470.1	.	.	.	.	.	.	.	.	.	.	C	38	7.202954	0.98132	.	.	ENSG00000153291	ENST00000371347;ENST00000411689	.	.	.	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0136	17.2399	0.87010	0.0:1.0:0.0:0.0	.	.	.	.	X	46	.	ENSP00000360398:R46X	R	+	1	2	SLC25A27	46731568	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.036000	0.41165	2.645000	0.89757	0.650000	0.86243	CGA		0.458	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1	NM_004277		31	32	0	0	0	1	0	31	32					T	46623609	C	T	46623609	4	4	44	1	0	0	0	0	0	1	0	0	14505	876	31	1	142	1	SLC25A27	6	46623609	Nonsense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08		46623609	124491458	56	4141										
TULP4	56995	broad.mit.edu	37	chr6	158900985	158900985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	cctctgctcctacctctccaCtgccttcatccccaccatca	2	22	4	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr6:158900985C>T	ENST00000367097.3	+	7	2586	c.1229C>T	c.(1228-1230)aCt>aTt	p.T410I	TULP4_ENST00000367094.2_Missense_Mutation_p.T410I	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	410	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				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)		TACCTCTCCACTGCCTTCATC	0.637																																						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.(1228-1230)aCt>aTt		tubby like protein 4							78	77	77					6																	158900985		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158900985C>T		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1229C>T	6.37:g.158900985C>T	ENSP00000356064:p.Thr410Ile		Somatic				TULP4_ENST00000367094.2_Missense_Mutation_p.T410I	p.T410I	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)	7	2586	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	410			SOCS box.		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.1229C>T	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037370	0.93630	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.62105	0.05;0.05	5.75	5.75	0.90469	Tumour necrosis factor-like (1);SOCS protein, C-terminal (2);	0.217536	0.48767	D	0.000170	T	0.49338	0.1551	N	0.19112	0.55	0.58432	D	0.999999	P;B;P	0.48162	0.491;0.302;0.906	B;B;P	0.49226	0.243;0.146;0.603	T	0.50499	-0.8821	10	0.40728	T	0.16	-8.8845	19.9493	0.97193	0.0:1.0:0.0:0.0	.	410;410;410	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	I	410	ENSP00000356064:T410I;ENSP00000356061:T410I	ENSP00000356061:T410I	T	+	2	0	TULP4	158820973	1.000000	0.71417	0.668000	0.29813	0.994000	0.84299	4.462000	0.60121	2.712000	0.92718	0.561000	0.74099	ACT		0.637	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		11	31	0	0	0	1	0	11	31					T	158900985	C	T	158900985	3	4	44	1	0	0	0	0	1	0	0	0	16791	565	20	3	1255	3	TULP4	6	158900985	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	112277376	158900985	12214082	57	4142										
TULP4	56995	broad.mit.edu	37	chr6	158923254	158923254	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	acagcagcacccccgcccccTctgccgcccccacagccccc	6	27	1	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr6:158923254T>C	ENST00000367097.3	+	13	3916	c.2559T>C	c.(2557-2559)ccT>ccC	p.P853P	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	853					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)		CCCCGCCCCCTCTGCCGCCCC	0.652																																						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.(2557-2559)ccT>ccC		tubby like protein 4							7	9	8					6																	158923254		2122	4178	6300	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923254T>C		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.2559T>C	6.37:g.158923254T>C			Somatic				TULP4_ENST00000367094.2_Intron	p.P853P	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)	13	3916	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	853					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.2559T>C	CCDS34561.1																																																																																				0.652	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		3	8	0	0	0	1	0	3	8					C	158923254	T	C	158923254	2	2	44	1	0	0	0	0	0	0	0	1	16791	1538	54	4		4	TULP4	6	158923254	Silent	SNP	T	TCGA-NA-A4R1-01A-11D-A28R-08	22269	158923254	12191813	58	4143										
C7orf30	115416	broad.mit.edu	37	chr7	23347508	23347508	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	acaaacacctgaaatgtaaaCgtgaccctcatgttaagata	6	9	1	3			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:23347508C>T	ENST00000466681.1	+	3	610	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	153					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											GAAATGTAAACGTGACCCTCA	0.428																																						ENST00000466681.1																			0											c.(457-459)Cgt>Tgt		mitochondrial assembly of ribosomal large subunit 1							239	211	220					7																	23347508		2203	4300	6503	SO:0001583	missense	115416					mitochondrion		g.chr7:23347508C>T	BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"chromosome 7 open reading frame 30"	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.457C>T	7.37:g.23347508C>T	ENSP00000419370:p.Arg153Cys		Somatic					p.R153C	NM_138446.1	NP_612455.1	WXS	Illumina GAIIx	Phase_I	Q96EH3	CG030_HUMAN			3	610	+			153					A4D154	Missense_Mutation	SNP	ENST00000466681.1	37	c.457C>T	CCDS5381.1	.	.	.	.	.	.	.	.	.	.	C	4.226	0.040799	0.08196	.	.	ENSG00000156928	ENST00000466681	.	.	.	5.04	3.87	0.44632	.	0.785098	0.12582	N	0.456327	T	0.30417	0.0764	L	0.45352	1.415	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.28170	-1.0052	9	0.40728	T	0.16	-4.6305	1.9016	0.03269	0.5778:0.144:0.1441:0.1341	.	153	Q96EH3	CG030_HUMAN	C	153	.	ENSP00000419370:R153C	R	+	1	0	C7orf30	23314033	0.002000	0.14202	0.273000	0.24645	0.084000	0.17831	0.792000	0.26929	0.863000	0.35553	-0.275000	0.10095	CGT		0.428	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250241.2	NM_138446		16	111	0	0	0	1	0	16	111					T	23347508	C	T	23347508	3	4	44	1	0	0	0	0	1	0	0	0	2388	536	19	1	467	1	C7orf30	7	23347508	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08		23347508	135791155	59	4144										
NUDCD3	23386	broad.mit.edu	37	chr7	44530146	44530146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tcctggacgttgcccacgtgCtgcaggatgcccaaaagggc	13	13	0	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:44530146C>T	ENST00000355451.7	-	1	333	c.54G>A	c.(52-54)caG>caA	p.Q18Q		NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	18										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						TGCCCACGTGCTGCAGGATGC	0.622																																						ENST00000355451.6																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(52-54)caG>caA		NudC domain containing 3							26	34	31					7																	44530146		2101	4242	6343	SO:0001819	synonymous_variant	23386							g.chr7:44530146C>T	BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.54G>A	7.37:g.44530146C>T			Somatic					p.Q18Q	NM_015332.3	NP_056147.2	WXS	Illumina GAIIx	Phase_I	Q8IVD9	NUDC3_HUMAN			1	333	-			18					Q9BTI3|Q9H7W9|Q9UPT4	Silent	SNP	ENST00000355451.7	37	c.54G>A	CCDS5490.2																																																																																				0.622	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251248.3	NM_015332		15	6	0	0	0	1	0	15	6					T	44530146	C	T	44530146	2	4	44	1	0	0	0	0	0	0	0	1	10733	796	28	3		3	NUDCD3	7	44530146	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	21182638	44530146	114608517	60	4145										
BAZ1B	9031	broad.mit.edu	37	chr7	72907249	72907249	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tggcgatctacgtgctctgtCatctagtcaaatcatagaaa	8	9	6	1	rs376917030		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:72907249C>T	ENST00000339594.4	-	5	912	c.574G>A	c.(574-576)Gac>Aac	p.D192N	BAZ1B_ENST00000404251.1_Missense_Mutation_p.D192N	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	192	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGTGCTCTGTCATCTAGTCAA	0.348																																					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.(574-576)Gac>Aac		bromodomain adjacent to zinc finger domain, 1B		C	ASN/ASP	1,4401	2.1+/-5.4	0,1,2200	111	106	108		574	5.5	1	7		108	0,8600		0,0,4300	no	missense	BAZ1B	NM_032408.3	23	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	192/1484	72907249	1,13001	2201	4300	6501	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.chr7:72907249C>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.574G>A	7.37:g.72907249C>T	ENSP00000342434:p.Asp192Asn		Somatic				BAZ1B_ENST00000404251.1_Missense_Mutation_p.D192N	p.D192N	NM_032408.3	NP_115784.1	WXS	Illumina GAIIx	Phase_I	Q9UIG0	BAZ1B_HUMAN			5	912	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	192			Mediates the tyrosine-protein kinase activity.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.574G>A	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232486	0.95207	2.27E-4	0.0	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59906	0.23;0.23	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.65533	0.2700	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.63523	-0.6618	10	0.38643	T	0.18	-17.1046	17.9238	0.88976	0.0:1.0:0.0:0.0	.	192	Q9UIG0	BAZ1B_HUMAN	N	192	ENSP00000342434:D192N;ENSP00000385442:D192N	ENSP00000342434:D192N	D	-	1	0	BAZ1B	72545185	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.896000	0.75665	2.572000	0.86782	0.585000	0.79938	GAC		0.348	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		23	10	0	0	0	1	0	23	10					T	72907249	C	T	72907249	3	4	44	1	0	0	0	0	1	0	0	0	1330	826	29	3	3937	3	BAZ1B	7	72907249	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	28377103	72907249	86231414	61	4146										
ZNF804B	219578	broad.mit.edu	37	chr7	88963258	88963258	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	agaagattcaattggcattcAtgcttcattctctaaatcta	5	8	5	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:88963258A>G	ENST00000333190.4	+	4	1571	c.962A>G	c.(961-963)cAt>cGt	p.H321R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	321							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)			ATTGGCATTCATGCTTCATTC	0.328										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.(961-963)cAt>cGt		zinc finger protein 804B							43	44	44					7																	88963258		2203	4297	6500	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963258A>G	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.962A>G	7.37:g.88963258A>G	ENSP00000329638:p.His321Arg	HNSCC(36;0.09)	Somatic					p.H321R	NM_181646.2	NP_857597.1	WXS	Illumina GAIIx	Phase_I	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1571	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		321					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.962A>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	a	0.008	-1.896257	0.00522	.	.	ENSG00000182348	ENST00000333190	T	0.05139	3.49	5.14	-0.0798	0.13709	.	0.671525	0.14164	N	0.337172	T	0.03695	0.0105	L	0.40543	1.245	0.09310	N	1	P	0.41947	0.766	B	0.34038	0.174	T	0.37911	-0.9685	10	0.30854	T	0.27	2.4992	1.8471	0.03161	0.484:0.2564:0.1364:0.1233	.	321	A4D1E1	Z804B_HUMAN	R	321	ENSP00000329638:H321R	ENSP00000329638:H321R	H	+	2	0	ZNF804B	88801194	0.000000	0.05858	0.000000	0.03702	0.675000	0.39556	0.365000	0.20348	-0.146000	0.11274	-0.253000	0.11424	CAT		0.328	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		14	32	0	0	0	1	0	14	32					G	88963258	A	G	88963258	3	3	44	1	0	0	0	0	1	0	0	0	18186	217	8	4	976	4	ZNF804B	7	88963258	Missense_Mutation	SNP	A	TCGA-NA-A4R1-01A-11D-A28R-08	16056009	88963258	70175405	62	4147										
AKAP9	10142	broad.mit.edu	37	chr7	91714219	91714219	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	aaggccgaggagaagaaagtGaaagtgcaacagattccttt	12	6	0	4			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:91714219G>A	ENST00000359028.2	+	35	9034	c.8809G>A	c.(8809-8811)Gaa>Aaa	p.E2937K	AKAP9_ENST00000356239.3_Missense_Mutation_p.E2933K|AKAP9_ENST00000358100.2_Intron			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2937					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)			AGAAGAAAGTGAAAGTGCAAC	0.368			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(8809-8811)Gaa>Aaa		A kinase (PRKA) anchor protein 9							105	109	108					7																	91714219		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.chr7:91714219G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8809G>A	7.37:g.91714219G>A	ENSP00000351922:p.Glu2937Lys		Somatic				AKAP9_ENST00000358100.2_Intron|AKAP9_ENST00000356239.3_Missense_Mutation_p.E2933K	p.E2937K			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)		35	9034	+	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)		2937					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.8809G>A		.	.	.	.	.	.	.	.	.	.	G	19.57	3.851887	0.71719	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000413120;ENST00000394534	T;T;T	0.04083	3.79;3.83;3.71	5.06	5.06	0.68205	.	0.000000	0.41605	D	0.000858	T	0.20129	0.0484	M	0.76574	2.34	0.80722	D	1	D;D;P;P;P	0.67145	0.996;0.989;0.849;0.906;0.906	P;P;B;P;P	0.62813	0.907;0.801;0.398;0.602;0.602	T	0.00460	-1.1726	10	0.39692	T	0.17	.	18.7865	0.91957	0.0:0.0:1.0:0.0	.	2937;2937;2937;2933;2925	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	K	2933;2937;2937;779	ENSP00000348573:E2933K;ENSP00000351922:E2937K;ENSP00000378042:E779K	ENSP00000348573:E2933K	E	+	1	0	AKAP9	91552155	1.000000	0.71417	0.957000	0.39632	0.991000	0.79684	6.337000	0.72958	2.520000	0.84964	0.561000	0.74099	GAA		0.368	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		51	106	0	0	0	1	0	51	106					A	91714219	G	A	91714219	3	1	44	1	0	0	0	0	1	0	0	0	459	1291	45	3	8935	3	AKAP9	7	91714219	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	2750961	91714219	67424444	63	4148										
ANKIB1	54467	broad.mit.edu	37	chr7	91936913	91936914	+	Frame_Shift_Ins	INS	-	-	A													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ctattgatgctgttgataacINSaaaaaaaacacacccttgca					rs201434379		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:91936913_91936914insA	ENST00000265742.3	+	3	805_806	c.429_430insA	c.(430-432)aaafs	p.K144fs		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	144							zinc ion binding (GO:0008270)	p.N146fs*12(2)		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)			CTGTTGATAACAAAAAAAACAC	0.361																																						ENST00000265742.3																			2	Deletion - Frameshift(2)	p.N146fs*12(2)	large_intestine(2)	cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41						c.(427-432)aaaaaafs		ankyrin repeat and IBR domain containing 1																																				SO:0001589	frameshift_variant	54467						protein binding|zinc ion binding	g.chr7:91936913_91936914insA	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.437dupA	7.37:g.91936921_91936921dupA	ENSP00000265742:p.Lys144fs		Somatic					p.KK143fs	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)		3	805_806	+	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)		143					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Frame_Shift_Ins	INS	ENST00000265742.3	37	c.429_430insA	CCDS47639.1																																																																																				0.361	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			17	46						17	46	---	---	---	---	A	91936914	-	A	91936913	7	5	44	1	0	1	1	0	0	0	0	0	630	477	17	0	435	0	ANKIB1	7	91936913	Frame_Shift_Ins	INS	-	TCGA-NA-A4R1-01A-11D-A28R-08	222694	91936913	67201750	64	4149										
TRRAP	8295	broad.mit.edu	37	chr7	98581955	98581955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gctacctccagctggcaggcGtcatgggcaaaaacgagtgc	13	12	1	0	rs200203849		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:98581955G>A	ENST00000359863.4	+	60	9483	c.9274G>A	c.(9274-9276)Gtc>Atc	p.V3092I	TRRAP_ENST00000446306.3_Missense_Mutation_p.V3063I|TRRAP_ENST00000355540.3_Missense_Mutation_p.V3063I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3092	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				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)			GCTGGCAGGCGTCATGGGCAA	0.498																																						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.(9274-9276)Gtc>Atc		transformation/transcription domain-associated protein							95	91	92					7																	98581955		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.chr7:98581955G>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.9274G>A	7.37:g.98581955G>A	ENSP00000352925:p.Val3092Ile		Somatic				TRRAP_ENST00000446306.3_Missense_Mutation_p.V3063I|TRRAP_ENST00000355540.3_Missense_Mutation_p.V3063I	p.V3092I	NM_001244580.1	NP_001231509.1	WXS	Illumina GAIIx	Phase_I	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		60	9483	+	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)		3092			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.9274G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380247	0.82682	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.70045	-0.45;-0.45	5.42	5.42	0.78866	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.066334	0.64402	D	0.000014	T	0.69708	0.3141	M	0.65975	2.015	0.80722	D	1	D;P;P	0.53885	0.963;0.938;0.938	B;B;B	0.44085	0.365;0.44;0.44	T	0.73216	-0.4053	10	0.48119	T	0.1	.	19.2126	0.93763	0.0:0.0:1.0:0.0	.	3063;2802;3092	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	I	3092;3063;3062	ENSP00000352925:V3092I;ENSP00000347733:V3063I	ENSP00000347733:V3063I	V	+	1	0	TRRAP	98419891	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.750000	0.98875	2.559000	0.86315	0.655000	0.94253	GTC		0.498	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		54	126	0	0	0	1	0	54	126					A	98581955	G	A	98581955	3	1	44	1	0	0	0	0	1	0	0	0	16616	1145	40	1	9417	1	TRRAP	7	98581955	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	6645042	98581955	60556708	65	4150										
SLC26A3	1811	broad.mit.edu	37	chr7	107417136	107417136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gttcttccaatattagccagCgtgctgcattttggactgta	9	9	1	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:107417136C>T	ENST00000340010.5	-	14	1714	c.1530G>A	c.(1528-1530)acG>acA	p.T510T	SLC26A3_ENST00000422236.2_Silent_p.T475T	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	510					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						TATTAGCCAGCGTGCTGCATT	0.333																																						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.(1528-1530)acG>acA		solute carrier family 26 (anion exchanger), member 3							91	86	87					7																	107417136		2203	4300	6503	SO:0001819	synonymous_variant	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107417136C>T	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.1530G>A	7.37:g.107417136C>T			Somatic				SLC26A3_ENST00000422236.2_Silent_p.T475T	p.T510T	NM_000111.2	NP_000102.1	WXS	Illumina GAIIx	Phase_I	P40879	S26A3_HUMAN			14	1714	-			510						Silent	SNP	ENST00000340010.5	37	c.1530G>A	CCDS5748.1																																																																																				0.333	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		5	71	0	0	0	1	0	5	71					T	107417136	C	T	107417136	2	4	44	1	0	0	0	0	0	0	0	1	14533	755	27	1		1	SLC26A3	7	107417136	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	8835181	107417136	51721527	66	4151										
MDFIC	29969	broad.mit.edu	37	chr7	114562639	114562641	+	In_Frame_Del	DEL	GAG	GAG	-													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gctaactttccggggcggaaGaggaggaggaggaggaggaa							TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:114562639_114562641delGAG	ENST00000257724.3	+	1	431_433	c.168_170delGAG	c.(166-171)aagagg>aag	p.R62del	MDFIC_ENST00000448022.1_5'UTR|MDFIC_ENST00000393486.1_5'UTR|MDFIC_ENST00000423503.1_5'Flank					MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CGGGGCggaagaggaggaggagg	0.709											OREG0003787	type=REGULATORY REGION|Gene=MDFIC|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000257724.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						c.(166-171)aag>aa		MyoD family inhibitor domain containing			,,	37,3219		1,35,1592					,,	1.4	0.4			5	121,6845		4,113,3366	no	coding,coding,utr-5	MDFIC	NM_199072.4,NM_001166346.1,NM_001166345.1	,,	5,148,4958	A1A1,A1R,RR		1.737,1.1364,1.5457	,,	,,		158,10064				SO:0001651	inframe_deletion	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.chr7:114562639_114562641delGAG	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	ENST00000257724.3:c.168_170delGAG	7.37:g.114562648_114562650delGAG	ENSP00000257724:p.Arg62del		Somatic	OREG0003787	type=REGULATORY REGION|Gene=MDFIC|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1459	MDFIC_ENST00000448022.1_5'UTR|MDFIC_ENST00000393486.1_5'UTR	p.KR56del			WXS	Illumina GAIIx	Phase_I	Q9P1T7	MDFIC_HUMAN			1	431_433	+			0						In_Frame_Del	DEL	ENST00000257724.3	37	c.168_170delGAG	CCDS34737.1																																																																																				0.709	MDFIC-007	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366397.1	NM_199072		2	4						2	4	---	---	---	---	-	114562641	GAG	-	114562639	7	5	44	1	0	1	0	1	0	0	0	0	9414	933	33	0	170	0	MDFIC	7	114562639	In_Frame_Del	DEL	GAG	TCGA-NA-A4R1-01A-11D-A28R-08	7145503	114562639	44576024	67	4152										
NUP205	23165	broad.mit.edu	37	chr7	135304341	135304341	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gatagttgcttcacctcaccTcctcctgaagagaacccatt	6	14	2	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:135304341T>C	ENST00000285968.6	+	29	4160	c.4134T>C	c.(4132-4134)ccT>ccC	p.P1378P		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1378					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						TCACCTCACCTCCTCCTGAAG	0.438																																						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.(4132-4134)ccT>ccC		nucleoporin 205kDa							83	76	79					7																	135304341		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.chr7:135304341T>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.4134T>C	7.37:g.135304341T>C			Somatic					p.P1378P	NM_015135.2	NP_055950.1	WXS	Illumina GAIIx	Phase_I	Q92621	NU205_HUMAN			29	4160	+			1378					A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	c.4134T>C	CCDS34759.1																																																																																				0.438	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			7	51	0	0	0	1	0	7	51					C	135304341	T	C	135304341	2	2	44	1	0	0	0	0	0	0	0	1	10768	1538	54	4		4	NUP205	7	135304341	Silent	SNP	T	TCGA-NA-A4R1-01A-11D-A28R-08	20741702	135304341	23834322	68	4153										
OR2A14	135941	broad.mit.edu	37	chr7	143826872	143826872	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	cctacttgcgcatcctggccGccatcttgaggatccagtct	9	15	2	1	rs565673957		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:143826872G>A	ENST00000408899.2	+	1	722	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	223						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)					CATCCTGGCCGCCATCTTGAG	0.607																																						ENST00000408899.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(667-669)Gcc>Acc		olfactory receptor, family 2, subfamily A, member 14							115	119	117					7																	143826872		2055	4203	6258	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826872G>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.667G>A	7.37:g.143826872G>A	ENSP00000386137:p.Ala223Thr		Somatic					p.A223T	NM_001001659.1	NP_001001659.1	WXS	Illumina GAIIx	Phase_I	Q96R47	O2A14_HUMAN			1	722	+	Melanoma(164;0.0783)		223					Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.667G>A	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238609	0.22711	.	.	ENSG00000221938	ENST00000408899	T	0.00188	8.59	4.18	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32314	U	0.006271	T	0.00109	0.0003	N	0.04686	-0.185	0.21473	N	0.999677	P	0.36789	0.57	B	0.39094	0.29	T	0.20273	-1.0280	10	0.29301	T	0.29	-11.7295	6.9594	0.24590	0.0954:0.0:0.7324:0.1722	.	223	Q96R47	O2A14_HUMAN	T	223	ENSP00000386137:A223T	ENSP00000386137:A223T	A	+	1	0	OR2A14	143457805	0.000000	0.05858	0.526000	0.27913	0.010000	0.07245	0.042000	0.13949	0.495000	0.27882	0.561000	0.74099	GCC		0.607	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			5	296	0	0	0	1	0	5	296					A	143826872	G	A	143826872	3	1	44	1	0	0	0	0	1	0	0	0	10985	1087	38	1	669	1	OR2A14	7	143826872	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	8522531	143826872	15311791	69	4154										
HR	55806	broad.mit.edu	37	chr8	21986672	21986672	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gtgcccttcaggaagctgggCgtactctccatcactctcct	9	15	4	0	rs148136587		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr8:21986672C>T	ENST00000381418.4	-	2	1492	c.12G>A	c.(10-12)acG>acA	p.T4T	HR_ENST00000312841.8_Silent_p.T4T|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	4					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)		GGAAGCTGGGCGTACTCTCCA	0.632																																						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.(10-12)acG>acA		hair growth associated							85	90	88					8																	21986672		2203	4300	6503	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21986672C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.12G>A	8.37:g.21986672C>T			Somatic				HR_ENST00000312841.8_Silent_p.T4T	p.T4T	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	1492	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	4					Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.12G>A	CCDS6022.1																																																																																				0.632	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			48	62	0	0	0	1	0	48	62					T	21986672	C	T	21986672	2	4	44	1	0	0	0	0	0	0	0	1	7356	755	27	1		1	HR	8	21986672	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08		21986672	124377350	70	4155										
ADAM9	8754	broad.mit.edu	37	chr8	38865443	38865443	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	atctttcttcttatgaaattAtaactccttggagattaact	4	7	3	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr8:38865443A>G	ENST00000487273.2	+	2	214	c.136A>G	c.(136-138)Ata>Gta	p.I46V	ADAM9_ENST00000481513.1_Missense_Mutation_p.I46V|ADAM9_ENST00000466936.1_Missense_Mutation_p.I46V	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	46				Missing (in Ref. 2; no nucleotide entry). {ECO:0000305}.	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)			TTATGAAATTATAACTCCTTG	0.318																																						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.(136-138)Ata>Gta		ADAM metallopeptidase domain 9							73	74	74					8																	38865443		2202	4296	6498	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.chr8:38865443A>G	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.136A>G	8.37:g.38865443A>G	ENSP00000419446:p.Ile46Val		Somatic				ADAM9_ENST00000481513.1_Missense_Mutation_p.I46V|ADAM9_ENST00000466936.1_Missense_Mutation_p.I46V	p.I46V	NM_003816.2	NP_003807.1	WXS	Illumina GAIIx	Phase_I	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		2	214	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	46	Missing (in Ref. 2; no nucleotide entry).				B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	c.136A>G	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	A	3.021	-0.201833	0.06219	.	.	ENSG00000168615	ENST00000466936;ENST00000481513;ENST00000487273	T;T;T	0.03920	3.76;3.76;3.76	6.04	2.29	0.28610	Peptidase M12B, propeptide (1);	0.146210	0.64402	N	0.000010	T	0.02533	0.0077	N	0.12746	0.255	0.31653	N	0.646502	B;B;B	0.21071	0.0;0.051;0.046	B;B;B	0.28991	0.004;0.097;0.097	T	0.44697	-0.9311	10	0.02654	T	1	.	7.8195	0.29280	0.7633:0.0:0.2367:0.0	.	46;46;46	Q13443;C9J6H5;C9JPM3	ADAM9_HUMAN;.;.	V	46	ENSP00000420257:I46V;ENSP00000417066:I46V;ENSP00000419446:I46V	ENSP00000369249:I46V	I	+	1	0	ADAM9	38984600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.184000	0.32053	0.153000	0.19213	0.460000	0.39030	ATA		0.318	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			20	21	0	0	0	1	0	20	21					G	38865443	A	G	38865443	3	3	44	1	0	0	0	0	1	0	0	0	253	449	16	4	142	4	ADAM9	8	38865443	Missense_Mutation	SNP	A	TCGA-NA-A4R1-01A-11D-A28R-08	16878771	38865443	107498579	71	4156										
SLC20A2	6575	broad.mit.edu	37	chr8	42275340	42275340	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	atcacacatatggaaggatcCcatacatgagaagagccatg	9	9	1	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr8:42275340C>A	ENST00000342228.3	-	11	2309	c.1940G>T	c.(1939-1941)gGg>gTg	p.G647V	SLC20A2_ENST00000520262.1_Missense_Mutation_p.G647V|SLC20A2_ENST00000520179.1_Missense_Mutation_p.G647V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	647					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGGAAGGATCCCATACATGAG	0.552																																						ENST00000342228.3																			0				breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26						c.(1939-1941)gGg>gTg		solute carrier family 20 (phosphate transporter), member 2							97	80	85					8																	42275340		2203	4300	6503	SO:0001583	missense	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42275340C>A		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"Solute carriers"	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1940G>T	8.37:g.42275340C>A	ENSP00000340465:p.Gly647Val		Somatic				SLC20A2_ENST00000520179.1_Missense_Mutation_p.G647V|SLC20A2_ENST00000520262.1_Missense_Mutation_p.G647V	p.G647V	NM_006749.4	NP_006740.1	WXS	Illumina GAIIx	Phase_I	Q08357	S20A2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		11	2309	-	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	647						Missense_Mutation	SNP	ENST00000342228.3	37	c.1940G>T	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343513	0.24339	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.90261	-2.64;-2.64;-2.64	5.8	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.74619	0.3740	N	0.01576	-0.805	0.80722	D	1	B	0.17268	0.021	B	0.12156	0.007	T	0.70572	-0.4835	10	0.08837	T	0.75	-29.7866	14.7177	0.69284	0.0:0.8542:0.1458:0.0	.	647	Q08357	S20A2_HUMAN	V	647	ENSP00000340465:G647V;ENSP00000429754:G647V;ENSP00000429712:G647V	ENSP00000340465:G647V	G	-	2	0	SLC20A2	42394497	1.000000	0.71417	0.998000	0.56505	0.384000	0.30261	3.158000	0.50723	1.447000	0.47661	0.655000	0.94253	GGG		0.552	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			14	56	1	0	1.49906e-05	1	1.56007e-05	14	56					A	42275340	C	A	42275340	3	1	44	1	0	0	0	0	1	0	0	0	14454	623	22	5	22	5	SLC20A2	8	42275340	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	3409897	42275340	104088682	72	4157										
ERMP1	79956	broad.mit.edu	37	chr9	5787228	5787228	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tccttcagagcatccagttgAggggatctcttgtcttcccc	9	13	3	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:5787228A>G	ENST00000339450.5	-	15	2720	c.2631T>C	c.(2629-2631)ccT>ccC	p.P877P	ERMP1_ENST00000543230.1_3'UTR|ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	877						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)		CATCCAGTTGAGGGGATCTCT	0.473																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(2629-2631)ccT>ccC		endoplasmic reticulum metallopeptidase 1							80	83	82					9																	5787228		2203	4300	6503	SO:0001819	synonymous_variant	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5787228A>G	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.2631T>C	9.37:g.5787228A>G			Somatic				ERMP1_ENST00000543230.1_3'UTR|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_3'UTR	p.P877P	NM_024896.2	NP_079172.2	WXS	Illumina GAIIx	Phase_I	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	15	2720	-		Acute lymphoblastic leukemia(23;0.158)	877					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	c.2631T>C	CCDS34983.1																																																																																				0.473	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		20	26	0	0	0	1	0	20	26					G	5787228	A	G	5787228	2	3	44	1	0	0	0	0	0	0	0	1	5238	291	11	4		4	ERMP1	9	5787228	Silent	SNP	A	TCGA-NA-A4R1-01A-11D-A28R-08		5787228	135426203	73	4158										
BNC2	54796	broad.mit.edu	37	chr9	16419174	16419174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tgtacattttgtggcaaatgTtgcacatgatcccaccattg	8	9	0	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:16419174T>C	ENST00000380672.4	-	7	3170	c.3113A>G	c.(3112-3114)aAc>aGc	p.N1038S	BNC2_ENST00000545497.1_Missense_Mutation_p.N943S|BNC2_ENST00000380667.2_Missense_Mutation_p.N971S	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)		GTGGCAAATGTTGCACATGAT	0.512																																						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.(3112-3114)aAc>aGc		basonuclin 2							103	82	89					9																	16419174		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16419174T>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.3113A>G	9.37:g.16419174T>C	ENSP00000370047:p.Asn1038Ser		Somatic				BNC2_ENST00000380667.2_Missense_Mutation_p.N971S|BNC2_ENST00000545497.1_Missense_Mutation_p.N943S	p.N1038S	NM_017637.5	NP_060107.3	WXS	Illumina GAIIx	Phase_I	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	7	3170	-			1038						Missense_Mutation	SNP	ENST00000380672.4	37	c.3113A>G	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	T	8.322	0.824587	0.16678	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.50277	0.75;0.75;0.75	6.08	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.091491	0.64402	D	0.000001	T	0.33000	0.0848	N	0.20685	0.6	0.80722	D	1	B;B;B	0.24920	0.007;0.114;0.009	B;B;B	0.27380	0.011;0.079;0.023	T	0.07083	-1.0791	10	0.15952	T	0.53	-19.6406	13.5708	0.61845	0.0:0.0:0.1298:0.8702	.	943;1038;803	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	S	1038;971;943	ENSP00000370047:N1038S;ENSP00000370042:N971S;ENSP00000444640:N943S	ENSP00000370042:N971S	N	-	2	0	BNC2	16409174	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.325000	0.52030	1.104000	0.41587	0.482000	0.46254	AAC		0.512	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		22	29	0	0	0	1	0	22	29					C	16419174	T	C	16419174	3	2	44	1	0	0	0	0	1	0	0	0	1475	1725	60	4	190	4	BNC2	9	16419174	Missense_Mutation	SNP	T	TCGA-NA-A4R1-01A-11D-A28R-08	10631946	16419174	124794257	74	4159										
SLC24A2	25769	broad.mit.edu	37	chr9	19786016	19786016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	acccatttttctacttggacGttgaatttcatgaaaaccac	5	10	2	2	rs570505431		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:19786016G>A	ENST00000341998.2	-	1	910	c.849C>T	c.(847-849)aaC>aaT	p.N283N	SLC24A2_ENST00000286344.3_Silent_p.N283N	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	283					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTACTTGGACGTTGAATTTCA	0.408													G|||	0	0	0	0	5008	,	,		21640	0		0	False		,,,				2504	0					ENST00000341998.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(847-849)aaC>aaT		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2							146	139	142					9																	19786016		2203	4300	6503	SO:0001819	synonymous_variant	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19786016G>A	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.849C>T	9.37:g.19786016G>A			Somatic				SLC24A2_ENST00000286344.3_Silent_p.N283N	p.N283N	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	WXS	Illumina GAIIx	Phase_I	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	1	910	-			283					B7ZLL8|Q9NTN5|Q9NZQ4	Silent	SNP	ENST00000341998.2	37	c.849C>T	CCDS6493.1																																																																																				0.408	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		37	54	0	0	0	1	0	37	54					A	19786016	G	A	19786016	2	1	44	1	0	0	0	0	0	0	0	1	14481	1136	40	1		1	SLC24A2	9	19786016	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	3366842	19786016	121427415	75	4160										
RASEF	158158	broad.mit.edu	37	chr9	85615415	85615415	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tgccttcactaacagaccctTggggcttccagtctaagacg	9	13	2	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:85615415T>C	ENST00000376447.3	-	11	1768	c.1508A>G	c.(1507-1509)cAa>cGa	p.Q503R		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	503					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AACAGACCCTTGGGGCTTCCA	0.443																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1507-1509)cAa>cGa		RAS and EF-hand domain containing							72	78	76					9																	85615415		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85615415T>C	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.1508A>G	9.37:g.85615415T>C	ENSP00000365630:p.Gln503Arg		Somatic					p.Q503R	NM_152573.2	NP_689786.2	WXS	Illumina GAIIx	Phase_I	Q8IZ41	RASEF_HUMAN			11	1768	-			503					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.1508A>G	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	T	4.532	0.098756	0.08681	.	.	ENSG00000165105	ENST00000376447	T	0.60424	0.19	5.77	-5.02	0.02982	.	1.118960	0.06627	N	0.758540	T	0.46639	0.1403	L	0.36672	1.1	0.09310	N	1	B	0.18610	0.029	B	0.15870	0.014	T	0.49341	-0.8950	10	0.62326	D	0.03	.	13.6697	0.62418	0.0:0.0661:0.5922:0.3417	.	503	Q8IZ41	RASEF_HUMAN	R	503	ENSP00000365630:Q503R	ENSP00000365630:Q503R	Q	-	2	0	RASEF	84805235	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	-0.085000	0.11250	-0.533000	0.06323	-0.464000	0.05259	CAA		0.443	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		4	22	0	0	0	1	0	4	22					C	85615415	T	C	85615415	3	2	44	1	0	0	0	0	1	0	0	0	13083	1812	63	4	742	4	RASEF	9	85615415	Missense_Mutation	SNP	T	TCGA-NA-A4R1-01A-11D-A28R-08	65829399	85615415	55598016	76	4161										
FANCC	2176	broad.mit.edu	37	chr9	97912337	97912337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	taataagtgggacacaaactCgtgacagggacgccactcgc	11	11	0	1	rs370346767		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:97912337C>T	ENST00000289081.3	-	7	808	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	FANCC_ENST00000375305.1_Missense_Mutation_p.R185Q	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	185					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)				GACACAAACTCGTGACAGGGA	0.473			"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.(553-555)cGa>cAa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group C		C	GLN/ARG	0,4406		0,0,2203	64	66	65		554	-0.6	0.8	9		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	FANCC	NM_000136.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	185/559	97912337	1,13005	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.chr9:97912337C>T	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"Fanconi anemia, complementation groups"	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.554G>A	9.37:g.97912337C>T	ENSP00000289081:p.Arg185Gln		Somatic				FANCC_ENST00000375305.1_Missense_Mutation_p.R185Q	p.R185Q	NM_000136.2	NP_000127.2	WXS	Illumina GAIIx	Phase_I	Q00597	FANCC_HUMAN			7	808	-		Acute lymphoblastic leukemia(62;0.138)	185					B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	c.554G>A	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093915	0.36952	0.0	1.16E-4	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.49720	0.77;0.77	4.77	-0.552	0.11818	.	1.138670	0.06457	N	0.728836	T	0.34687	0.0906	L	0.51422	1.61	0.20703	N	0.999867	B	0.20671	0.047	B	0.15484	0.013	T	0.19549	-1.0302	10	0.13108	T	0.6	-0.1023	3.2244	0.06726	0.2392:0.3373:0.0:0.4235	.	185	Q00597	FANCC_HUMAN	Q	185	ENSP00000289081:R185Q;ENSP00000364454:R185Q	ENSP00000289081:R185Q	R	-	2	0	FANCC	96952158	0.117000	0.22190	0.843000	0.33291	0.213000	0.24496	0.240000	0.18042	0.100000	0.17581	0.650000	0.86243	CGA		0.473	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		9	8	0	0	0	1	0	9	8					T	97912337	C	T	97912337	3	4	44	1	0	0	0	0	1	0	0	0	5672	884	31	1	1158	1	FANCC	9	97912337	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	12296922	97912337	43301094	77	4162										
UAP1L1	91373	broad.mit.edu	37	chr9	139972957	139972957	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ccgcgcctcccttgcaggtaCgtcatgaccagcgagttcac	10	16	2	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:139972957C>T	ENST00000409858.3	+	3	530	c.498C>T	c.(496-498)taC>taT	p.Y166Y	UAP1L1_ENST00000360271.3_Silent_p.Y43Y|UAP1L1_ENST00000476184.1_3'UTR	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	166							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)		CTTGCAGGTACGTCATGACCA	0.667																																						ENST00000409858.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(496-498)taC>taT		UDP-N-acteylglucosamine pyrophosphorylase 1-like 1							67	57	61					9																	139972957		2203	4300	6503	SO:0001819	synonymous_variant	91373						nucleotidyltransferase activity	g.chr9:139972957C>T	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.498C>T	9.37:g.139972957C>T			Somatic				UAP1L1_ENST00000476184.1_3'UTR|UAP1L1_ENST00000360271.3_Silent_p.Y43Y	p.Y166Y	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)	3	530	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	166					A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Silent	SNP	ENST00000409858.3	37	c.498C>T	CCDS7028.2																																																																																				0.667	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063		13	18	0	0	0	1	0	13	18					T	139972957	C	T	139972957	2	4	44	1	0	0	0	0	0	0	0	1	16841	547	19	1		1	UAP1L1	9	139972957	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	42060620	139972957	1240474	78	4163										
ZEB1	6935	broad.mit.edu	37	chr10	31815734	31815734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gaaagcgcttctcacactctGggtcttattctcaacacatg	7	12	4	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr10:31815734G>A	ENST00000320985.10	+	9	3027	c.2917G>A	c.(2917-2919)Ggg>Agg	p.G973R	ZEB1_ENST00000361642.5_Missense_Mutation_p.G974R|ZEB1_ENST00000542815.3_Missense_Mutation_p.G906R|ZEB1_ENST00000446923.2_Missense_Mutation_p.G957R|ZEB1_ENST00000560721.2_Missense_Mutation_p.G953R			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	973					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G973W(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTCACACTCTGGGTCTTATTC	0.443																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			1	Substitution - Missense(1)	p.G973W(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(2869-2871)Ggg>Agg		zinc finger E-box binding homeobox 1							107	89	95					10																	31815734		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.chr10:31815734G>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.2917G>A	10.37:g.31815734G>A	ENSP00000319248:p.Gly973Arg		Somatic				ZEB1_ENST00000320985.10_Missense_Mutation_p.G973R|ZEB1_ENST00000560721.2_Missense_Mutation_p.G953R|ZEB1_ENST00000361642.5_Missense_Mutation_p.G974R|ZEB1_ENST00000542815.3_Missense_Mutation_p.G906R	p.G957R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	WXS	Illumina GAIIx	Phase_I	P37275	ZEB1_HUMAN			9	3260	+		Prostate(175;0.0156)	973					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2869G>A	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130262	0.94473	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89	5.09	5.09	0.68999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.469690	0.20160	N	0.097975	T	0.34861	0.0912	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.987;0.991;0.993;0.993	D;P;D;P;P	0.79108	0.992;0.784;0.917;0.784;0.784	T	0.08638	-1.0712	10	0.87932	D	0	-6.1338	18.4786	0.90802	0.0:0.0:1.0:0.0	.	906;957;953;974;973	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	R	755;973;974;968;906;973;953;864;957	ENSP00000444282:G755R;ENSP00000354487:G974R;ENSP00000444891:G906R;ENSP00000319248:G973R;ENSP00000391612:G957R	ENSP00000319248:G973R	G	+	1	0	ZEB1	31855740	1.000000	0.71417	0.856000	0.33681	0.921000	0.55340	9.869000	0.99810	2.379000	0.81126	0.650000	0.86243	GGG		0.443	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		32	0	0	0	0	1	0	32	0					A	31815734	G	A	31815734	3	1	44	1	0	0	0	0	1	0	0	0	17638	1348	47	3	2965	3	ZEB1	10	31815734	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08		31815734	103719013	79	4164										
ARHGAP12	94134	broad.mit.edu	37	chr10	32197365	32197366	+	Frame_Shift_Ins	INS	-	-	A													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gacagtctgaccttgattatINSaactgggtccaaaattctga							TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr10:32197365_32197366insA	ENST00000344936.2	-	3	652_653	c.418_419insT	c.(418-420)tatfs	p.Y140fs	ARHGAP12_ENST00000311380.4_Frame_Shift_Ins_p.Y140fs|ARHGAP12_ENST00000375250.5_Frame_Shift_Ins_p.Y140fs|ARHGAP12_ENST00000396144.4_Frame_Shift_Ins_p.Y140fs|ARHGAP12_ENST00000375245.4_Frame_Shift_Ins_p.Y140fs	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	140					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)				ACCTTGATTATAACTGGGTCCA	0.421																																						ENST00000375250.5																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.(418-420)taafs		Rho GTPase activating protein 12																																				SO:0001589	frameshift_variant	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32197365_32197366insA	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.419dupT	10.37:g.32197367_32197367dupA	ENSP00000345808:p.Tyr140fs		Somatic				ARHGAP12_ENST00000311380.4_Frame_Shift_Ins_p.*140fs|ARHGAP12_ENST00000396144.4_Frame_Shift_Ins_p.*140fs|ARHGAP12_ENST00000344936.2_Frame_Shift_Ins_p.*140fs|ARHGAP12_ENST00000375245.4_Frame_Shift_Ins_p.*140fs	p.*140fs	NM_001270696.1	NP_001257625.1	WXS	Illumina GAIIx	Phase_I	Q8IWW6	RHG12_HUMAN			3	659_660	-		Prostate(175;0.0199)	140					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Frame_Shift_Ins	INS	ENST00000344936.2	37	c.418_419insT	CCDS7170.1																																																																																				0.421	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			57	4						57	4	---	---	---	---	A	32197366	-	A	32197365	7	5	44	1	0	1	1	0	0	0	0	0	865	1406	49	0	2193	0	ARHGAP12	10	32197365	Frame_Shift_Ins	INS	-	TCGA-NA-A4R1-01A-11D-A28R-08	381631	32197365	103337382	80	4165										
TFAM	7019	broad.mit.edu	37	chr10	60154714	60154714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	attcagcatgctaaagaggaCgaaactcgttatcataatga	8	7	2	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr10:60154714C>T	ENST00000487519.1	+	7	1147	c.621C>T	c.(619-621)gaC>gaT	p.D207D	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Silent_p.D175D	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	207					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						CTAAAGAGGACGAAACTCGTT	0.289																																						ENST00000487519.1																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(619-621)gaC>gaT		transcription factor A, mitochondrial							69	65	66					10																	60154714		2203	4300	6503	SO:0001819	synonymous_variant	7019				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr10:60154714C>T	BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.621C>T	10.37:g.60154714C>T			Somatic				TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Silent_p.D175D	p.D207D	NM_003201.1	NP_003192.1	WXS	Illumina GAIIx	Phase_I	Q00059	TFAM_HUMAN			7	1147	+			207					A8MRB2|A9QXC6|B5BU05|Q5U0C6	Silent	SNP	ENST00000487519.1	37	c.621C>T	CCDS7253.1																																																																																				0.289	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201		3	1	0	0	0	1	0	3	1					T	60154714	C	T	60154714	2	4	44	1	0	0	0	0	0	0	0	1	15801	535	19	1		1	TFAM	10	60154714	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	27957349	60154714	75380033	81	4166										
ANK3	288	broad.mit.edu	37	chr10	61829384	61829384	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tttcattttctaatccctgaCaactggtcatcaccgcttct	4	13	5	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr10:61829384C>A	ENST00000280772.2	-	37	11446	c.11255G>T	c.(11254-11256)tGt>tTt	p.C3752F	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3752					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						TAATCCCTGACAACTGGTCAT	0.398																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11254-11256)tGt>tTt		ankyrin 3, node of Ranvier (ankyrin G)							131	140	137					10																	61829384		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61829384C>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11255G>T	10.37:g.61829384C>A	ENSP00000280772:p.Cys3752Phe		Somatic				ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	p.C3752F	NM_020987.3	NP_066267.2	WXS	Illumina GAIIx	Phase_I	Q12955	ANK3_HUMAN			37	11446	-			3752					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.11255G>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	6.393	0.440691	0.12104	.	.	ENSG00000151150	ENST00000280772	T	0.15718	2.4	5.3	3.4	0.38934	.	0.813546	0.10352	N	0.684994	T	0.08670	0.0215	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14896	-1.0456	10	0.48119	T	0.1	.	4.8845	0.13696	0.2663:0.5325:0.1292:0.072	.	3752	Q12955	ANK3_HUMAN	F	3752	ENSP00000280772:C3752F	ENSP00000280772:C3752F	C	-	2	0	ANK3	61499390	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	1.888000	0.39708	0.572000	0.29383	0.655000	0.94253	TGT		0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		54	6	1	0	1.46156e-29	1	1.61493e-29	54	6					A	61829384	C	A	61829384	3	1	44	1	0	0	0	0	1	0	0	0	622	478	17	5	2219	5	ANK3	10	61829384	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	1674670	61829384	73705363	82	4167										
PTEN	5728	broad.mit.edu	37	chr10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	cctccaattcaggacccacaCgacgggaagacaagttcatg	9	13	2	1	rs121909219		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr10:89717672C>T	ENST00000371953.3	+	7	2054	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	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.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(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)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	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	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	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"		133	Substitution - Nonsense(77)|Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	p.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)	endometrium(48)|central_nervous_system(21)|prostate(17)|haematopoietic_and_lymphoid_tissue(10)|lung(9)|large_intestine(6)|skin(6)|ovary(5)|cervix(3)|soft_tissue(3)|breast(3)|urinary_tract(2)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971277	PTEN	M	rs121909219	c.(697-699)Cga>Tga		phosphatase and tensin homolog							155	133	141					10																	89717672		2203	4300	6503	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.chr10:89717672C>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.697C>T	10.37:g.89717672C>T	ENSP00000361021:p.Arg233*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic				PTEN_ENST00000472832.1_3'UTR	p.R233*	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	2054	+		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)	233			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.697C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.428311	0.99795	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	0.533	0.17121	.	0.063428	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2458	14.4841	0.67603	0.5413:0.4587:0.0:0.0	.	.	.	.	X	233	.	.	R	+	1	2	PTEN	89707652	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.280000	0.33202	0.512000	0.28257	0.585000	0.79938	CGA		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		40	1	0	0	0	1	0	40	1					T	89717672	C	T	89717672	4	4	44	1	0	0	0	0	0	1	0	0	12750	528	19	1	723	1	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	27888288	89717672	45817075	83	4168										
KNDC1	85442	broad.mit.edu	37	chr10	135000063	135000063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gacttcacaccccagccaggGgccagcagaggcccctgcag	12	17	1	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr10:135000063G>A	ENST00000304613.3	+	6	1232	c.1211G>A	c.(1210-1212)gGg>gAg	p.G404E	KNDC1_ENST00000368572.2_Missense_Mutation_p.G404E|KNDC1_ENST00000368571.2_Missense_Mutation_p.G339E			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	404					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)		CCCAGCCAGGGGCCAGCAGAG	0.662																																						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.(1210-1212)gGg>gAg		kinase non-catalytic C-lobe domain (KIND) containing 1							24	31	29					10																	135000063		2200	4294	6494	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135000063G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1211G>A	10.37:g.135000063G>A	ENSP00000304437:p.Gly404Glu		Somatic				KNDC1_ENST00000368572.2_Missense_Mutation_p.G404E|KNDC1_ENST00000368571.2_Missense_Mutation_p.G339E	p.G404E			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)	6	1232	+		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)	404					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.1211G>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	6.890	0.533658	0.13188	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.17691	2.75;2.75;2.26	2.41	-1.28	0.09318	.	0.486621	0.16534	U	0.210244	T	0.08088	0.0202	N	0.19112	0.55	0.09310	N	1	B;B	0.20459	0.045;0.003	B;B	0.16289	0.015;0.0	T	0.21348	-1.0248	10	0.45353	T	0.12	-10.9861	3.0475	0.06158	0.3342:0.2253:0.4405:0.0	.	339;404	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	E	404;404;339	ENSP00000304437:G404E;ENSP00000357561:G404E;ENSP00000357560:G339E	ENSP00000304437:G404E	G	+	2	0	KNDC1	134850053	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.126000	0.03254	-0.275000	0.09219	-0.387000	0.06579	GGG		0.662	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		38	2	0	0	0	1	0	38	2					A	135000063	G	A	135000063	3	1	44	1	0	0	0	0	1	0	0	0	8435	1232	43	3	1233	3	KNDC1	10	135000063	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	45282391	135000063	534684	84	4169										
CDHR5	53841	broad.mit.edu	37	chr11	619490	619490	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gcacctctgcgtagaaggctCccgcctgtgccagtgtggtg	14	13	1	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr11:619490C>A	ENST00000358353.3	-	12	1599	c.1277G>T	c.(1276-1278)gGa>gTa	p.G426V	CDHR5_ENST00000397542.2_Missense_Mutation_p.G426V|CDHR5_ENST00000349570.7_Missense_Mutation_p.G426V			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	426	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTAGAAGGCTCCCGCCTGTGC	0.607																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(1276-1278)gGa>gTa		cadherin-related family member 5							115	109	111					11																	619490		2203	4300	6503	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:619490C>A	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1277G>T	11.37:g.619490C>A	ENSP00000351118:p.Gly426Val		Somatic				CDHR5_ENST00000397542.2_Missense_Mutation_p.G426V|CDHR5_ENST00000349570.7_Missense_Mutation_p.G426V	p.G426V			WXS	Illumina GAIIx	Phase_I	Q9HBB8	CDHR5_HUMAN			12	1599	-			426			Cadherin 4.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.1277G>T	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602303	0.46423	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000326366;ENST00000349570	T;T;T	0.16743	2.32;2.32;2.32	3.52	-0.79	0.10932	Cadherin (2);	.	.	.	.	T	0.18882	0.0453	L	0.29908	0.895	0.09310	N	1	P;D;P;D;D	0.63880	0.688;0.993;0.902;0.986;0.986	B;P;P;P;P	0.61533	0.167;0.89;0.605;0.76;0.812	T	0.19910	-1.0291	9	0.27082	T	0.32	-3.3633	4.2017	0.10469	0.0:0.3318:0.42:0.2482	.	426;426;419;426;426	Q58EZ6;Q9HBB8-4;B4DV98;Q9HBB8-2;Q9HBB8	.;.;.;.;CDHR5_HUMAN	V	426	ENSP00000380676:G426V;ENSP00000351118:G426V;ENSP00000345726:G426V	ENSP00000326527:G426V	G	-	2	0	CDHR5	609490	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.133000	0.03232	-0.009000	0.14296	0.462000	0.41574	GGA		0.607	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		45	2	1	0	6.18754e-15	1	6.67211e-15	45	2					A	619490	C	A	619490	3	1	44	1	0	0	0	0	1	0	0	0	3124	855	30	2	1280	2	CDHR5	11	619490	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08		619490	134387026	85	4170										
MUC2	4583	broad.mit.edu	37	chr11	1083268	1083268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	caagtgctcctgttaccaccGcggtctctacctggaggcgg	12	14	1	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr11:1083268G>A	ENST00000441003.2	+	16	2195	c.2168G>A	c.(2167-2169)cGc>cAc	p.R723H	MUC2_ENST00000359061.5_Missense_Mutation_p.R723H	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	723					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)	TGTTACCACCGCGGTCTCTAC	0.682																																						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.(2167-2169)cGc>cAc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						27	32	31					11																	1083268		2010	4157	6167	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1083268G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2168G>A	11.37:g.1083268G>A	ENSP00000415183:p.Arg723His		Somatic				MUC2_ENST00000359061.5_Missense_Mutation_p.R723H	p.R723H	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)	16	2195	+		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)	723					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.2168G>A		.	.	.	.	.	.	.	.	.	.	g	5.158	0.214735	0.09810	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.22134	1.97;1.97	4.36	-4.67	0.03319	.	0.859620	0.09525	N	0.790283	T	0.12220	0.0297	N	0.20766	0.605	0.09310	N	1	B	0.26041	0.14	B	0.21360	0.034	T	0.25433	-1.0132	10	0.20519	T	0.43	.	15.1933	0.73063	0.8346:0.0:0.1654:0.0	.	723	E7EUV1	.	H	723	ENSP00000415183:R723H;ENSP00000351956:R723H	ENSP00000351956:R723H	R	+	2	0	MUC2	1073268	0.000000	0.05858	0.003000	0.11579	0.200000	0.23975	-0.151000	0.10175	-0.810000	0.04375	0.457000	0.33378	CGC		0.682	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		6	11	0	0	0	1	0	6	11					A	1083268	G	A	1083268	3	1	44	1	0	0	0	0	1	0	0	0	9984	1087	38	1	2230	1	MUC2	11	1083268	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	463778	1083268	133923248	86	4171										
COPB1	1315	broad.mit.edu	37	chr11	14481798	14481798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	attggttgactttaatatgtGctgtaagtagtcatttaaat	8	3	1	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr11:14481798G>A	ENST00000249923.3	-	20	2902	c.2602C>T	c.(2602-2604)Cac>Tac	p.H868Y	COPB1_ENST00000439561.2_Missense_Mutation_p.H868Y	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	868					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						TTTAATATGTGCTGTAAGTAG	0.358																																						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.(2602-2604)Cac>Tac		coatomer protein complex, subunit beta 1							163	152	156					11																	14481798		2199	4294	6493	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.chr11:14481798G>A	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2602C>T	11.37:g.14481798G>A	ENSP00000249923:p.His868Tyr		Somatic				COPB1_ENST00000439561.2_Missense_Mutation_p.H868Y	p.H868Y	NM_016451.4	NP_057535.1	WXS	Illumina GAIIx	Phase_I	P53618	COPB_HUMAN			20	2902	-			868					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.2602C>T	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916444	0.92249	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.48522	0.81;0.81	6.07	6.07	0.98685	Coatomer, beta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.78801	2.425	0.80722	D	1	P	0.50272	0.933	P	0.57057	0.812	T	0.64381	-0.6421	10	0.41790	T	0.15	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	868	P53618	COPB_HUMAN	Y	868	ENSP00000249923:H868Y;ENSP00000397873:H868Y	ENSP00000249923:H868Y	H	-	1	0	COPB1	14438374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.623000	0.98386	2.890000	0.99128	0.585000	0.79938	CAC		0.358	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		14	0	0	0	0	1	0	14	0					A	14481798	G	A	14481798	3	1	44	1	0	0	0	0	1	0	0	0	3730	1319	46	3	271	3	COPB1	11	14481798	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	13398530	14481798	120524718	87	4172										
AIP	9049	broad.mit.edu	37	chr11	67254583	67254583	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	catcattggcaagaagttcaAgctgcctgtgtgggagacca	12	9	2	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr11:67254583A>G	ENST00000279146.3	+	2	324	c.206A>G	c.(205-207)aAg>aGg	p.K69R		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	69	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GAF domain binding (GO:0036004)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						AAGAAGTTCAAGCTGCCTGTG	0.592									Familial Isolated Pituitary Adenoma																													ENST00000279146.3																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(205-207)aAg>aGg		aryl hydrocarbon receptor interacting protein							234	196	209					11																	67254583		2200	4295	6495	SO:0001583	missense	9049	Familial Isolated Pituitary Adenoma	Familial Cancer Database	FIPA, incl. Familial Isolated Somatotropinomas, FIS, IFS, Familial Acromegaly	protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding	g.chr11:67254583A>G	U31913	CCDS8168.1	11q13.3	2014-09-17	2001-11-29		ENSG00000110711	ENSG00000110711			358	protein-coding gene	gene with protein product		605555	"aryl hydrocarbon receptor-interacting protein"			8972861, 9111057	Standard	NM_003977		Approved	XAP2, ARA9, FKBP16	uc001olv.3	O00170	OTTHUMG00000167674	ENST00000279146.3:c.206A>G	11.37:g.67254583A>G	ENSP00000279146:p.Lys69Arg		Somatic					p.K69R	NM_003977.2	NP_003968.2	WXS	Illumina GAIIx	Phase_I	O00170	AIP_HUMAN			2	324	+			69			PPIase FKBP-type.		A0SZW3|A0SZW4|A0SZW5|A0SZW6|Q2M3Q2|Q99606	Missense_Mutation	SNP	ENST00000279146.3	37	c.206A>G	CCDS8168.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.829208	0.90955	.	.	ENSG00000110711	ENST00000528641;ENST00000279146;ENST00000529797	D;D;D	0.86230	-2.09;-2.09;-2.09	5.16	4.04	0.47022	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.052146	0.85682	D	0.000000	D	0.91050	0.7184	M	0.67700	2.07	0.58432	D	0.999999	D	0.69078	0.997	D	0.70016	0.967	D	0.90059	0.4155	10	0.59425	D	0.04	-35.2488	9.4273	0.38588	0.9147:0.0:0.0853:0.0	.	69	O00170	AIP_HUMAN	R	69	ENSP00000434982:K69R;ENSP00000279146:K69R;ENSP00000434580:K69R	ENSP00000279146:K69R	K	+	2	0	AIP	67011159	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.708000	0.91372	0.822000	0.34565	0.402000	0.26972	AAG		0.592	AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395516.1			70	102	0	0	0	1	0	70	102					G	67254583	A	G	67254583	3	3	44	1	0	0	0	0	1	0	0	0	435	72	3	4	212	4	AIP	11	67254583	Missense_Mutation	SNP	A	TCGA-NA-A4R1-01A-11D-A28R-08	52772785	67254583	67751933	88	4173										
MYO7A	4647	broad.mit.edu	37	chr11	76877132	76877132	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gaagaaccgagacaccctgcAtggggacattatccagctgg	12	11	0	2	rs397516287		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr11:76877132A>G	ENST00000409709.3	+	15	1993	c.1721A>G	c.(1720-1722)cAt>cGt	p.H574R	MYO7A_ENST00000409893.1_Missense_Mutation_p.H574R|MYO7A_ENST00000409619.2_Missense_Mutation_p.H563R|MYO7A_ENST00000458637.2_Missense_Mutation_p.H574R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	574	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						GACACCCTGCATGGGGACATT	0.562																																						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.(1720-1722)cAt>cGt		myosin VIIA							66	68	67					11																	76877132		2013	4172	6185	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.chr11:76877132A>G	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.1721A>G	11.37:g.76877132A>G	ENSP00000386331:p.His574Arg		Somatic				MYO7A_ENST00000458637.2_Missense_Mutation_p.H574R|MYO7A_ENST00000409893.1_Missense_Mutation_p.H574R|MYO7A_ENST00000409619.2_Missense_Mutation_p.H563R	p.H574R	NM_000260.3	NP_000251.3	WXS	Illumina GAIIx	Phase_I	Q13402	MYO7A_HUMAN			15	1993	+			574			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.1721A>G	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.969016	0.74131	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.53	5.53	0.82687	Myosin head, motor domain (2);	0.067131	0.64402	D	0.000009	D	0.88273	0.6392	L	0.31578	0.945	0.58432	D	0.99999	P;P;P	0.50272	0.933;0.584;0.484	P;B;B	0.57720	0.826;0.34;0.403	D	0.89623	0.3850	10	0.66056	D	0.02	.	15.9478	0.79806	1.0:0.0:0.0:0.0	.	574;574;574	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	R	574;574;574;563;573;573;450;573	ENSP00000386331:H574R;ENSP00000386689:H574R;ENSP00000392185:H574R;ENSP00000386635:H563R	ENSP00000345075:H450R	H	+	2	0	MYO7A	76554780	0.961000	0.32948	0.993000	0.49108	0.981000	0.71138	5.301000	0.65727	2.220000	0.72140	0.533000	0.62120	CAT		0.562	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		10	33	0	0	0	1	0	10	33					G	76877132	A	G	76877132	3	3	44	1	0	0	0	0	1	0	0	0	10091	217	8	4	1775	4	MYO7A	11	76877132	Missense_Mutation	SNP	A	TCGA-NA-A4R1-01A-11D-A28R-08	9622549	76877132	58129384	89	4174										
DNAJC14	85406	broad.mit.edu	37	chr12	56221932	56221932	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gagagattcttcatcatcatAttcctcttccaactcatctt	3	12	7	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:56221932A>G	ENST00000357606.3	-	3	800	c.511T>C	c.(511-513)Tat>Cat	p.Y171H	DNAJC14_ENST00000317287.5_Missense_Mutation_p.Y171H|RP11-762I7.5_ENST00000546837.1_5'Flank|TMEM198B_ENST00000478241.1_RNA|DNAJC14_ENST00000317269.3_Missense_Mutation_p.Y171H			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	171					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TCATCATCATATTCCTCTTCC	0.502																																						ENST00000357606.3																			0				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						c.(511-513)Tat>Cat		DnaJ (Hsp40) homolog, subfamily C, member 14							63	63	63					12																	56221932		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56221932A>G	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"Heat shock proteins / DNAJ (HSP40)"	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.511T>C	12.37:g.56221932A>G	ENSP00000350223:p.Tyr171His		Somatic				DNAJC14_ENST00000317287.5_Missense_Mutation_p.Y171H|DNAJC14_ENST00000317269.3_Missense_Mutation_p.Y171H	p.Y171H			WXS	Illumina GAIIx	Phase_I	Q6Y2X3	DJC14_HUMAN			3	800	-			171					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.511T>C	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931718	0.52866	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000317287	T;T;T	0.32753	1.44;1.44;1.44	5.17	3.98	0.46160	.	0.350620	0.26574	N	0.023603	T	0.24736	0.0600	N	0.24115	0.695	0.29796	N	0.832821	P;P	0.50943	0.94;0.94	P;P	0.48030	0.564;0.564	T	0.04678	-1.0934	9	.	.	.	-9.9669	10.2625	0.43436	0.7945:0.2055:0.0:0.0	.	171;171	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	H	171	ENSP00000350223:Y171H;ENSP00000316240:Y171H;ENSP00000317500:Y171H	.	Y	-	1	0	DNAJC14	54508199	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.326000	0.43849	2.078000	0.62432	0.528000	0.53228	TAT		0.502	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		40	42	0	0	0	1	0	40	42					G	56221932	A	G	56221932	3	3	44	1	0	0	0	0	1	0	0	0	4635	449	16	4	1621	4	DNAJC14	12	56221932	Missense_Mutation	SNP	A	TCGA-NA-A4R1-01A-11D-A28R-08		56221932	77629963	90	4175										
USP15	9958	broad.mit.edu	37	chr12	62786091	62786091	+	Frame_Shift_Del	DEL	A	A	-													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gtgtggagtataaacctcctAaaaaaccctttgtgaaatta							TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:62786091delA	ENST00000280377.5	+	18	2402	c.2344delA	c.(2344-2346)aaafs	p.K783fs	USP15_ENST00000353364.3_Frame_Shift_Del_p.K754fs|USP15_ENST00000393654.3_Frame_Shift_Del_p.K758fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	783	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)		TAAACCTCCTAAAAAACCCTT	0.303																																					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.(2344-2346)aafs		ubiquitin specific peptidase 15							35	39	38					12																	62786091		2200	4283	6483	SO:0001589	frameshift_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62786091delA	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.2344delA	12.37:g.62786091delA	ENSP00000280377:p.Lys783fs		Somatic				USP15_ENST00000393654.3_Frame_Shift_Del_p.K758fs|USP15_ENST00000353364.3_Frame_Shift_Del_p.K754fs	p.K783fs	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)	18	2402	+			783					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Frame_Shift_Del	DEL	ENST00000280377.5	37	c.2344delA	CCDS58251.1																																																																																				0.303	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		13	0						13	0	---	---	---	---	-	62786091	A	-	62786091	7	5	44	1	0	1	0	1	0	0	0	0	17061	363	13	0	2323	0	USP15	12	62786091	Frame_Shift_Del	DEL	A	TCGA-NA-A4R1-01A-11D-A28R-08	6564159	62786091	71065804	91	4176										
APAF1	317	broad.mit.edu	37	chr12	99053108	99053108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gtctccgcattctgatgcttCgcaaacacccaaggtaccga	8	14	2	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:99053108C>T	ENST00000551964.1	+	5	1433	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	APAF1_ENST00000357310.1_Missense_Mutation_p.R233C|APAF1_ENST00000550527.1_Missense_Mutation_p.R222C|APAF1_ENST00000359972.2_Missense_Mutation_p.R222C|APAF1_ENST00000552268.1_Missense_Mutation_p.R233C|APAF1_ENST00000549007.1_Missense_Mutation_p.R233C|APAF1_ENST00000333991.1_Missense_Mutation_p.R233C|APAF1_ENST00000339433.3_Missense_Mutation_p.R233C|APAF1_ENST00000547045.1_Missense_Mutation_p.R233C	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	233	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCTGATGCTTCGCAAACACCC	0.453																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(697-699)Cgc>Tgc		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						85	84	84					12																	99053108		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.chr12:99053108C>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.697C>T	12.37:g.99053108C>T	ENSP00000448165:p.Arg233Cys		Somatic				APAF1_ENST00000359972.2_Missense_Mutation_p.R222C|APAF1_ENST00000333991.1_Missense_Mutation_p.R233C|APAF1_ENST00000549007.1_Missense_Mutation_p.R233C|APAF1_ENST00000339433.3_Missense_Mutation_p.R233C|APAF1_ENST00000550527.1_Missense_Mutation_p.R222C|APAF1_ENST00000547045.1_Missense_Mutation_p.R233C|APAF1_ENST00000552268.1_Missense_Mutation_p.R233C|APAF1_ENST00000551964.1_Missense_Mutation_p.R233C	p.R233C	NM_181868.1	NP_863658.1	WXS	Illumina GAIIx	Phase_I	O14727	APAF_HUMAN			5	1274	+			233			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.697C>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771174	0.49680	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.53	4.64	0.57946	NB-ARC (1);	0.204216	0.52532	N	0.000061	T	0.75496	0.3857	M	0.70595	2.14	0.80722	D	1	B;B;B;B;B	0.31256	0.316;0.09;0.079;0.035;0.002	B;B;B;B;B	0.25291	0.059;0.041;0.011;0.016;0.001	T	0.75830	-0.3179	10	0.56958	D	0.05	-15.5938	14.5151	0.67814	0.0:0.9296:0.0:0.0704	.	233;233;222;233;222	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	C	233;222;233;233;233;233;222;233;233	ENSP00000448165:R233C;ENSP00000353059:R222C;ENSP00000349862:R233C;ENSP00000341830:R233C;ENSP00000334558:R233C;ENSP00000448826:R233C;ENSP00000448449:R222C;ENSP00000449791:R233C;ENSP00000448161:R233C	ENSP00000334558:R233C	R	+	1	0	APAF1	97577239	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	7.068000	0.76748	1.344000	0.45657	0.650000	0.86243	CGC		0.453	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		12	10	0	0	0	1	0	12	10					T	99053108	C	T	99053108	3	4	44	1	0	0	0	0	1	0	0	0	755	884	31	1	711	1	APAF1	12	99053108	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	36267017	99053108	34798787	92	4177										
TCTN1	79600	broad.mit.edu	37	chr12	111064170	111064170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	atttttttaattttcaggggCgacagccagttttgtagtca	9	6	2	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:111064170C>T	ENST00000551590.1	+	3	501	c.345C>T	c.(343-345)ggC>ggT	p.G115G	TCTN1_ENST00000550703.2_Silent_p.G115G|TCTN1_ENST00000471804.2_Silent_p.G115G|TCTN1_ENST00000397659.4_Silent_p.G115G|TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000377654.3_5'UTR|RN7SL387P_ENST00000581015.1_RNA|TCTN1_ENST00000397655.3_Silent_p.G115G			Q2MV58	TECT1_HUMAN	tectonic family member 1	115					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						ttttCAGGGGCGACAGCCAGT	0.318																																						ENST00000551590.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						c.(343-345)ggC>ggT		tectonic family member 1							43	39	40					12																	111064170		1771	4036	5807	SO:0001819	synonymous_variant	79600				multicellular organismal development	extracellular region		g.chr12:111064170C>T	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"Tectonic proteins"	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.345C>T	12.37:g.111064170C>T			Somatic				TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000471804.2_Silent_p.G115G|TCTN1_ENST00000397659.4_Silent_p.G115G|TCTN1_ENST00000377654.3_5'UTR|TCTN1_ENST00000550703.2_Silent_p.G115G|TCTN1_ENST00000397655.3_Silent_p.G115G	p.G115G			WXS	Illumina GAIIx	Phase_I	Q2MV58	TECT1_HUMAN			3	501	+			115					A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Silent	SNP	ENST00000551590.1	37	c.345C>T	CCDS41835.1																																																																																				0.318	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		5	1	0	0	0	1	0	5	1					T	111064170	C	T	111064170	2	4	44	1	0	0	0	0	0	0	0	1	15737	755	27	1		1	TCTN1	12	111064170	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	12011062	111064170	22787725	93	4178										
RHOF	54509	broad.mit.edu	37	chr12	122231493	122231494	+	Frame_Shift_Del	DEL	CC	CC	-													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	cgatcttcagctccttcctgCccggaccgggggcggcggtc							TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:122231493_122231494delCC	ENST00000267205.2	-	1	674_675	c.46_47delGG	c.(46-48)ggcfs	p.G16fs	RHOF_ENST00000545544.1_Intron|RHOF_ENST00000537171.1_Frame_Shift_Del_p.G16fs|AC084018.1_ENST00000539299.1_lincRNA|RHOF_ENST00000537265.1_5'Flank	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	16					actin filament organization (GO:0007015)|GTP catabolic process (GO:0006184)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CTCCTTCCTGCCCGGACCGGGG	0.733																																						ENST00000267205.2																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(46-48)cfs		ras homolog family member F (in filopodia)																																				SO:0001589	frameshift_variant	54509				actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity	g.chr12:122231493_122231494delCC	AK000254	CCDS9222.1	12q24.31	2013-09-23	2012-02-27	2004-03-24	ENSG00000139725	ENSG00000139725			15703	protein-coding gene	gene with protein product			"ras homolog gene family, member F (in filopodia)"	ARHF		11084341	Standard	NM_019034		Approved	FLJ20247, RIF	uc001ubb.3	Q9HBH0	OTTHUMG00000169077	ENST00000267205.2:c.46_47delGG	12.37:g.122231493_122231494delCC	ENSP00000267205:p.Gly16fs		Somatic				RP11-347I19.3_ENST00000545544.1_RNA	p.G16fs	NM_019034.2	NP_061907.2	WXS	Illumina GAIIx	Phase_I	Q9HBH0	RHOF_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)	1	674_675	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		16					Q8WVB1|Q9NXH6	Frame_Shift_Del	DEL	ENST00000267205.2	37	c.46_47delGG	CCDS9222.1																																																																																				0.733	RHOF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402165.1			2	4						2	4	---	---	---	---	-	122231494	CC	-	122231493	7	5	44	1	0	1	0	1	0	0	0	0	13353	739	26	0	608	0	RHOF	12	122231493	Frame_Shift_Del	DEL	CC	TCGA-NA-A4R1-01A-11D-A28R-08	11167323	122231493	11620402	94	4179										
LRRC43	254050	broad.mit.edu	37	chr12	122672355	122672355	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	cacaacaaacttctaggcccCttggaaagtctctacgtcac	6	14	3	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:122672355C>A	ENST00000339777.4	+	4	658	c.630C>A	c.(628-630)ccC>ccA	p.P210P	LRRC43_ENST00000425921.1_Silent_p.P25P	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	210										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)		TTCTAGGCCCCTTGGAAAGTC	0.562																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(628-630)ccC>ccA		leucine rich repeat containing 43							68	69	68					12																	122672355		1939	4130	6069	SO:0001819	synonymous_variant	254050							g.chr12:122672355C>A	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.630C>A	12.37:g.122672355C>A			Somatic				LRRC43_ENST00000425921.1_Silent_p.P25P	p.P210P	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)	4	658	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		210					Q6ZVT9	Silent	SNP	ENST00000339777.4	37	c.630C>A	CCDS45001.1																																																																																				0.562	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		25	12	1	0	1.55811e-20	1	1.69031e-20	25	12					A	122672355	C	A	122672355	2	1	44	1	0	0	0	0	0	0	0	1	9010	668	24	5		5	LRRC43	12	122672355	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	440862	122672355	11179540	95	4180										
POLE	5426	broad.mit.edu	37	chr12	133225985	133225985	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ggaccatcccggatggccccGggcctgagcacaccctctgc	12	18	1	1	rs116482376		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:133225985G>A	ENST00000320574.5	-	31	3955	c.3912C>T	c.(3910-3912)ccC>ccT	p.P1304P	POLE_ENST00000535270.1_Silent_p.P1277P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1304					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)	GGATGGCCCCGGGCCTGAGCA	0.662								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0	0	5008	,	,		16147	0		0.001	False		,,,				2504	0					ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(3910-3912)ccC>ccT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							27	30	29					12																	133225985		2202	4294	6496	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133225985G>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.3912C>T	12.37:g.133225985G>A			Somatic				POLE_ENST00000535270.1_Silent_p.P1277P	p.P1304P	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)	31	3955	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1304					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.3912C>T	CCDS9278.1																																																																																				0.662	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		34	38	0	0	0	1	0	34	38					A	133225985	G	A	133225985	2	1	44	1	0	0	0	0	0	0	0	1	12205	1103	39	1		1	POLE	12	133225985	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	10553630	133225985	625910	96	4181										
LATS2	26524	broad.mit.edu	37	chr13	21562146	21562147	+	Frame_Shift_Del	DEL	CT	CT	-													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gagtagctcttgatgcgtgaCtctctcttctcttcgtctct							TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr13:21562146_21562147delCT	ENST00000382592.4	-	4	2177_2178	c.1772_1773delAG	c.(1771-1773)gagfs	p.E591fs	LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_Frame_Shift_Del_p.E591fs	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TGATGCGTGACTCTCTCTTCTC	0.515																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(1771-1773)gfs		large tumor suppressor kinase 2																																				SO:0001589	frameshift_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562146_21562147delCT	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1772_1773delAG	13.37:g.21562152_21562153delCT	ENSP00000372035:p.Glu591fs		Somatic				LATS2_ENST00000542899.1_Frame_Shift_Del_p.E591fs	p.E591fs	NM_014572.2	NP_055387.2	WXS	Illumina GAIIx	Phase_I	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	2177_2178	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	591						Frame_Shift_Del	DEL	ENST00000382592.4	37	c.1772_1773delAG	CCDS9294.1																																																																																				0.515	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			89	105						89	105	---	---	---	---	-	21562147	CT	-	21562146	7	5	44	1	0	1	0	1	0	0	0	0	8656	564	20	0	1513	0	LATS2	13	21562146	Frame_Shift_Del	DEL	CT	TCGA-NA-A4R1-01A-11D-A28R-08		21562146	93607732	97	4182										
PABPC3	5042	broad.mit.edu	37	chr13	25670421	25670421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tgactgaggcgatgctctacGagaagttcagcccggcaggg	15	10	2	3			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr13:25670421G>A	ENST00000281589.3	+	1	122	c.85G>A	c.(85-87)Gag>Aag	p.E29K		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	29	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)		GATGCTCTACGAGAAGTTCAG	0.627																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(85-87)Gag>Aag		poly(A) binding protein, cytoplasmic 3							76	74	75					13																	25670421		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25670421G>A	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.85G>A	13.37:g.25670421G>A	ENSP00000281589:p.Glu29Lys		Somatic					p.E29K	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	122	+		Lung SC(185;0.0225)|Breast(139;0.0602)	29			RRM 1.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.85G>A	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515411	0.44763	.	.	ENSG00000151846	ENST00000281589	T	0.17528	2.27	0.546	0.546	0.17196	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.38005	U	0.001843	T	0.13543	0.0328	L	0.42686	1.345	0.39859	D	0.973352	P	0.34837	0.472	B	0.36186	0.219	T	0.08638	-1.0712	10	0.87932	D	0	.	6.848	0.23998	1.0E-4:0.0:0.9999:0.0	.	29	Q9H361	PABP3_HUMAN	K	29	ENSP00000281589:E29K	ENSP00000281589:E29K	E	+	1	0	PABPC3	24568421	1.000000	0.71417	0.847000	0.33407	0.101000	0.19017	4.849000	0.62882	0.558000	0.29135	0.305000	0.20034	GAG		0.627	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		55	55	0	0	0	1	0	55	55					A	25670421	G	A	25670421	3	1	44	1	0	0	0	0	1	0	0	0	11374	1059	37	1	87	1	PABPC3	13	25670421	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	4108275	25670421	89499457	98	4183										
RB1	5925	broad.mit.edu	37	chr13	48953760	48953760	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ttggagttcgcttgtattacCgagtaatggaatccatgctt	10	7	0	0	rs121913302		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr13:48953760C>T	ENST00000267163.4	+	14	1501	c.1363C>T	c.(1363-1365)Cga>Tga	p.R455*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	455	Domain A.|Pocket; binds T and E1A.				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.?(8)|p.R455*(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	CTTGTATTACCGAGTAATGGA	0.358		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"		30	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(7)	p.0?(15)|p.?(8)|p.R455*(7)	bone(11)|breast(5)|eye(4)|central_nervous_system(3)|skin(3)|adrenal_gland(1)|soft_tissue(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	GRCh37	CM961228	RB1	M	rs121913302	c.(1363-1365)Cga>Tga		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						22	22	22					13																	48953760		2202	4300	6502	SO:0001587	stop_gained	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.chr13:48953760C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1363C>T	13.37:g.48953760C>T	ENSP00000267163:p.Arg455*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	Somatic					p.R455*	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)	14	1501	+		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)	455			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1363C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	39	7.414248	0.98269	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.74	4.81	0.61882	.	0.058073	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4293	0.61044	0.2356:0.7644:0.0:0.0	.	.	.	.	X	434;455	.	ENSP00000267163:R455X	R	+	1	2	RB1	47851761	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.765000	0.62271	2.707000	0.92482	0.557000	0.71058	CGA		0.358	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			2	0	0	0	0	1	0	2	0					T	48953760	C	T	48953760	4	4	44	1	0	0	0	0	0	1	0	0	13113	644	23	1	1417	1	RB1	13	48953760	Nonsense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	23283339	48953760	66216118	99	4184										
DIS3	22894	broad.mit.edu	37	chr13	73346315	73346315	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	acctccaaatttccattttcGagttctcgacaatgtagagc	6	11	1	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr13:73346315G>A	ENST00000377767.4	-	10	1585	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	DIS3_ENST00000545453.1_Silent_p.L333L|DIS3_ENST00000377780.4_Silent_p.L465L	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	495					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)		TTCCATTTTCGAGTTCTCGAC	0.363										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.(1483-1485)ctC>ctT		DIS3 mitotic control homolog (S. cerevisiae)							97	97	97					13																	73346315		2203	4300	6503	SO:0001819	synonymous_variant	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.chr13:73346315G>A	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.1485C>T	13.37:g.73346315G>A		Multiple Myeloma(4;0.011)	Somatic				DIS3_ENST00000545453.1_Silent_p.L333L|DIS3_ENST00000377780.4_Silent_p.L465L	p.L495L	NM_014953.3	NP_055768.3	WXS	Illumina GAIIx	Phase_I	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	10	1585	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	495					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Silent	SNP	ENST00000377767.4	37	c.1485C>T	CCDS9447.1																																																																																				0.363	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		19	20	0	0	0	1	0	19	20					A	73346315	G	A	73346315	2	1	44	1	0	0	0	0	0	0	0	1	4537	1045	37	1		1	DIS3	13	73346315	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	24392555	73346315	41823563	100	4185										
ACIN1	22985	broad.mit.edu	37	chr14	23530753	23530753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	cgggggtgggggtggggggtGcaggggccgtggtattccct	24	7	0	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:23530753G>A	ENST00000262710.1	-	17	3679	c.3352C>T	c.(3352-3354)Cac>Tac	p.H1118Y	ACIN1_ENST00000555053.1_Missense_Mutation_p.H1105Y|ACIN1_ENST00000357481.2_Missense_Mutation_p.H360Y|ACIN1_ENST00000557515.1_Missense_Mutation_p.H359Y|ACIN1_ENST00000457657.1_Missense_Mutation_p.H1078Y|ACIN1_ENST00000605057.1_Missense_Mutation_p.H1060Y|ACIN1_ENST00000338631.6_Missense_Mutation_p.H391Y|ACIN1_ENST00000397341.3_Missense_Mutation_p.H360Y	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1118	Pro-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGTGGGGGGTGCAGGGGCCGT	0.662																																						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.(3352-3354)Cac>Tac		apoptotic chromatin condensation inducer 1							6	7	7					14																	23530753		2128	4112	6240	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.chr14:23530753G>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.3352C>T	14.37:g.23530753G>A	ENSP00000262710:p.His1118Tyr		Somatic				ACIN1_ENST00000397341.3_Missense_Mutation_p.H360Y|ACIN1_ENST00000605057.1_Missense_Mutation_p.H1060Y|ACIN1_ENST00000457657.1_Missense_Mutation_p.H1078Y|ACIN1_ENST00000557515.1_Missense_Mutation_p.H359Y|ACIN1_ENST00000338631.6_Missense_Mutation_p.H391Y|ACIN1_ENST00000357481.2_Missense_Mutation_p.H360Y|ACIN1_ENST00000555053.1_Missense_Mutation_p.H1105Y	p.H1118Y	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	WXS	Illumina GAIIx	Phase_I	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	17	3679	-	all_cancers(95;1.36e-05)		1118			Pro-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3352C>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317916	0.60524	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T	0.14640	2.49;2.49;2.49	4.93	4.93	0.64822	.	0.000000	0.41294	D	0.000913	T	0.15349	0.0370	N	0.08118	0	0.35941	D	0.833236	D;P;P;P;P	0.56968	0.978;0.851;0.851;0.871;0.871	P;P;P;B;B	0.58391	0.731;0.838;0.838;0.446;0.446	T	0.23619	-1.0183	10	0.59425	D	0.04	-9.6754	13.5278	0.61605	0.0:0.0:1.0:0.0	.	1105;1118;1078;391;360	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	Y	359;391;360;1118;1078;360;1105	ENSP00000262710:H1118Y;ENSP00000405677:H1078Y;ENSP00000451328:H1105Y	ENSP00000262710:H1118Y	H	-	1	0	ACIN1	22600593	0.251000	0.23961	1.000000	0.80357	0.961000	0.63080	-0.176000	0.09811	2.559000	0.86315	0.551000	0.68910	CAC		0.662	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		6	6	0	0	0	1	0	6	6					A	23530753	G	A	23530753	3	1	44	1	0	0	0	0	1	0	0	0	142	1319	46	3	685	3	ACIN1	14	23530753	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08		23530753	83818787	101	4186										
MYH7	4625	broad.mit.edu	37	chr14	23891485	23891485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	cctccagcttccgcttcgctCgctccaggtccatgcgcacc	8	20	0	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:23891485C>T	ENST00000355349.3	-	25	3311	c.3149G>A	c.(3148-3150)cGa>cAa	p.R1050Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1050					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)		CCGCTTCGCTCGCTCCAGGTC	0.577																																						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.(3148-3150)cGa>cAa		myosin, heavy chain 7, cardiac muscle, beta							132	106	115					14																	23891485		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.chr14:23891485C>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.3149G>A	14.37:g.23891485C>T	ENSP00000347507:p.Arg1050Gln		Somatic					p.R1050Q	NM_000257.2	NP_000248.2	WXS	Illumina GAIIx	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	25	3311	-	all_cancers(95;2.54e-05)		1050					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.3149G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	35	5.516707	0.96402	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.94828	-3.53	4.64	4.64	0.57946	.	.	.	.	.	D	0.97736	0.9257	M	0.89968	3.075	0.58432	D	0.999994	D	0.89917	1.0	D	0.85130	0.997	D	0.98581	1.0650	9	0.87932	D	0	.	18.0449	0.89329	0.0:1.0:0.0:0.0	.	1050	P12883	MYH7_HUMAN	Q	1050	ENSP00000347507:R1050Q	ENSP00000347507:R1050Q	R	-	2	0	MYH7	22961325	0.807000	0.29009	0.997000	0.53966	0.962000	0.63368	7.466000	0.80914	2.585000	0.87301	0.655000	0.94253	CGA		0.577	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		25	23	0	0	0	1	0	25	23					T	23891485	C	T	23891485	3	4	44	1	0	0	0	0	1	0	0	0	10048	884	31	1	2722	1	MYH7	14	23891485	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	360732	23891485	83458055	102	4187										
NYNRIN	57523	broad.mit.edu	37	chr14	24885925	24885925	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	cctgaagccctacacacacaCggctgtggcccaggtgctgc	11	16	0	1	rs201409522		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:24885925C>T	ENST00000382554.3	+	9	5288	c.4970C>T	c.(4969-4971)aCg>aTg	p.T1657M		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1657	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				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						TACACACACACGGCTGTGGCC	0.602													C|||	1	0.000199681	0	0	5008	,	,		19176	0.001		0	False		,,,				2504	0					ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(4969-4971)aCg>aTg		NYN domain and retroviral integrase containing		C	MET/THR	0,4098		0,0,2049	42	47	45		4970	-10.7	0.1	14		45	3,8345		0,3,4171	yes	missense	NYNRIN	NM_025081.2	81	0,3,6220	TT,TC,CC		0.0359,0.0,0.0241	benign	1657/1899	24885925	3,12443	2049	4174	6223	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24885925C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4970C>T	14.37:g.24885925C>T	ENSP00000371994:p.Thr1657Met		Somatic					p.T1657M	NM_025081.2	NP_079357.2	WXS	Illumina GAIIx	Phase_I	Q9P2P1	NYNRI_HUMAN			9	5288	+			1657			Integrase catalytic.		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.4970C>T	CCDS45090.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	0.720	-0.783782	0.02907	0.0	3.59E-4	ENSG00000205978	ENST00000382554	T	0.43294	0.95	5.39	-10.7	0.00240	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.19287	0.0463	N	0.15975	0.35	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20207	-1.0282	9	0.22706	T	0.39	.	10.6597	0.45696	0.1599:0.0908:0.0:0.7492	.	1657	Q9P2P1	NYNRI_HUMAN	M	1657	ENSP00000371994:T1657M	ENSP00000371994:T1657M	T	+	2	0	NYNRIN	23955765	0.000000	0.05858	0.094000	0.20943	0.921000	0.55340	-0.953000	0.03877	-2.225000	0.00724	-0.894000	0.02916	ACG		0.602	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			22	22	0	0	0	1	0	22	22					T	24885925	C	T	24885925	3	4	44	1	0	0	0	0	1	0	0	0	10805	536	19	1	5000	1	NYNRIN	14	24885925	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	994440	24885925	82463615	103	4188										
FAM179B	23116	broad.mit.edu	37	chr14	45481246	45481246	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ttcttctgcaaagaaaaaaaTttctcatattgctgaacaaa	4	7	3	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:45481246T>A	ENST00000361577.3	+	7	3420	c.3206T>A	c.(3205-3207)aTt>aAt	p.I1069N	FAM179B_ENST00000382233.2_Missense_Mutation_p.N991K|FAM179B_ENST00000361462.2_Missense_Mutation_p.I1069N|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1069	Ser-rich.									endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AAGAAAAAAATTTCTCATATT	0.294																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(3205-3207)aTt>aAt		family with sequence similarity 179, member B							53	56	55					14																	45481246		2201	4299	6500	SO:0001583	missense	23116						binding	g.chr14:45481246T>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.3206T>A	14.37:g.45481246T>A	ENSP00000355045:p.Ile1069Asn		Somatic				KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361577.3_Missense_Mutation_p.I1069N|FAM179B_ENST00000382233.2_Missense_Mutation_p.N991K	p.I1069N			WXS	Illumina GAIIx	Phase_I	Q9Y4F4	F179B_HUMAN			7	3389	+			1069			Ser-rich.		Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.3206T>A	CCDS9681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.440|3.440	-0.114200|-0.114200	0.06881|0.06881	.|.	.|.	ENSG00000198718|ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462|ENST00000382233	T;T|T	0.03951|0.30714	3.75;3.75|1.52	5.92|5.92	-5.98|-5.98	0.02220|0.02220	Armadillo-type fold (1);|.	0.657345|.	0.16167|.	N|.	0.226467|.	T|T	0.08670|0.08670	0.0215|0.0215	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	0.22906|0.22906	-1.0203|-1.0203	10|7	0.12103|0.87932	T|D	0.63|0	0.0275|0.0275	0.1215|0.1215	0.00065|0.00065	0.2586:0.2007:0.2403:0.3004|0.2586:0.2007:0.2403:0.3004	.|.	1069;1069|.	G3XAE9;Q9Y4F4|.	.;F179B_HUMAN|.	N|K	1069|991	ENSP00000355045:I1069N;ENSP00000354917:I1069N|ENSP00000371668:N991K	ENSP00000354917:I1069N|ENSP00000371668:N991K	I|N	+|+	2|3	0|2	FAM179B|FAM179B	44550996|44550996	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.010000|0.010000	0.07245|0.07245	-0.808000|-0.808000	0.04515|0.04515	-1.159000|-1.159000	0.02807|0.02807	-1.199000|-1.199000	0.01669|0.01669	ATT|AAT		0.294	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		4	44	0	0	0	1	0	4	44					A	45481246	T	A	45481246	3	1	44	1	0	0	0	0	1	0	0	0	5511	1493	52	4	3232	4	FAM179B	14	45481246	Missense_Mutation	SNP	T	TCGA-NA-A4R1-01A-11D-A28R-08	20595321	45481246	61868294	104	4189										
WDHD1	11169	broad.mit.edu	37	chr14	55429738	55429738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	acctgggttgctgtcaattcGgctgccttctctacagccag	10	13	2	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:55429738G>A	ENST00000360586.3	-	19	2528	c.2463C>T	c.(2461-2463)gcC>gcT	p.A821A	WDHD1_ENST00000421192.1_Silent_p.A698A|WDHD1_ENST00000420358.2_Silent_p.A698A|WDHD1_ENST00000359167.4_Silent_p.A339A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	821					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTGTCAATTCGGCTGCCTTCT	0.383																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(2461-2463)gcC>gcT		WD repeat and HMG-box DNA binding protein 1							57	57	57					14																	55429738		2203	4298	6501	SO:0001819	synonymous_variant	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55429738G>A	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"WD repeat domain containing"	23170	protein-coding gene	gene with protein product	"CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2463C>T	14.37:g.55429738G>A			Somatic				WDHD1_ENST00000420358.2_Silent_p.A698A|WDHD1_ENST00000421192.1_Silent_p.A698A|WDHD1_ENST00000359167.4_Silent_p.A339A	p.A821A	NM_007086.3	NP_009017.1	WXS	Illumina GAIIx	Phase_I	O75717	WDHD1_HUMAN			19	2528	-			821					C9JW18|F6W0U7	Silent	SNP	ENST00000360586.3	37	c.2463C>T	CCDS9721.1																																																																																				0.383	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		12	13	0	0	0	1	0	12	13					A	55429738	G	A	55429738	2	1	44	1	0	0	0	0	0	0	0	1	17286	1103	39	1		1	WDHD1	14	55429738	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	9948492	55429738	51919802	105	4190										
SPTB	6710	broad.mit.edu	37	chr14	65270419	65270419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ccatgttctccaggtgtacaCgctgctccttgaggaactgg	11	12	1	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:65270419C>T	ENST00000389721.5	-	3	412	c.380G>A	c.(379-381)cGt>cAt	p.R127H	SPTB_ENST00000556626.1_Missense_Mutation_p.R127H|SPTB_ENST00000389720.3_Missense_Mutation_p.R127H|SPTB_ENST00000542895.1_Missense_Mutation_p.R127H|SPTB_ENST00000389722.3_Missense_Mutation_p.R127H	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	127	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)		CAGGTGTACACGCTGCTCCTT	0.607																																						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.(379-381)cGt>cAt		spectrin, beta, erythrocytic							112	94	100					14																	65270419		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.chr14:65270419C>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.380G>A	14.37:g.65270419C>T	ENSP00000374371:p.Arg127His		Somatic				SPTB_ENST00000556626.1_Missense_Mutation_p.R127H|SPTB_ENST00000542895.1_Missense_Mutation_p.R127H|SPTB_ENST00000389720.3_Missense_Mutation_p.R127H|SPTB_ENST00000389721.5_Missense_Mutation_p.R127H	p.R127H	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	433	-		all_lung(585;4.15e-09)	127			Actin-binding.|CH 1.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.380G>A	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405267	0.62288	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.48	5.48	0.80851	Calponin homology domain (5);	0.055818	0.64402	D	0.000003	T	0.48786	0.1519	N	0.17474	0.49	0.48452	D	0.999659	P;P	0.50819	0.931;0.939	P;P	0.45856	0.495;0.46	T	0.47935	-0.9078	10	0.36615	T	0.2	.	18.4855	0.90827	0.0:1.0:0.0:0.0	.	127;131	P11277;Q59FP5	SPTB1_HUMAN;.	H	131;127;127;127;127;127	ENSP00000374372:R127H;ENSP00000451752:R127H;ENSP00000374371:R127H;ENSP00000443882:R127H;ENSP00000374370:R127H	ENSP00000374370:R127H	R	-	2	0	SPTB	64340172	0.979000	0.34478	0.984000	0.44739	0.984000	0.73092	2.580000	0.46068	2.744000	0.94065	0.563000	0.77884	CGT		0.607	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			13	43	0	0	0	1	0	13	43					T	65270419	C	T	65270419	3	4	44	1	0	0	0	0	1	0	0	0	15133	536	19	1	6807	1	SPTB	14	65270419	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	9840681	65270419	42079121	106	4191										
DLST	1743	broad.mit.edu	37	chr14	75359578	75359578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	cggctgaagctcctgctgctGcagccccaaaagcagaacct	10	15	0	2	rs369541556		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:75359578G>A	ENST00000334220.4	+	8	545	c.484G>A	c.(484-486)Gca>Aca	p.A162T	DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_Missense_Mutation_p.A76T	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	162					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TCCTGCTGCTGCAGCCCCAAA	0.572																																						ENST00000334220.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(484-486)Gca>Aca		dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)							61	61	61					14																	75359578		2203	4300	6503	SO:0001583	missense	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75359578G>A		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.484G>A	14.37:g.75359578G>A	ENSP00000335304:p.Ala162Thr		Somatic				DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_Missense_Mutation_p.A76T	p.A162T	NM_001933.4	NP_001924.2	WXS	Illumina GAIIx	Phase_I	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	8	545	+			162					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Missense_Mutation	SNP	ENST00000334220.4	37	c.484G>A	CCDS9833.1	.	.	.	.	.	.	.	.	.	.	G	9.317	1.057144	0.19907	.	.	ENSG00000119689	ENST00000334220;ENST00000334212;ENST00000554806	T;T;T	0.42900	0.96;0.96;0.96	4.42	0.296	0.15757	Single hybrid motif (1);	0.211412	0.49305	N	0.000143	T	0.24547	0.0595	L	0.29908	0.895	0.34898	D	0.746171	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.07083	-1.0791	10	0.39692	T	0.17	-40.2052	4.8191	0.13381	0.2596:0.289:0.4514:0.0	.	76;162;162;74;78	B7Z5W8;Q6IBS5;P36957;Q86TQ8;Q86TW7	.;.;ODO2_HUMAN;.;.	T	162;76;145	ENSP00000335304:A162T;ENSP00000335465:A76T;ENSP00000451957:A145T	ENSP00000238671:A145T	A	+	1	0	DLST	74429331	0.976000	0.34144	0.877000	0.34402	0.320000	0.28249	1.076000	0.30729	-0.041000	0.13558	0.555000	0.69702	GCA		0.572	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			26	39	0	0	0	1	0	26	39					A	75359578	G	A	75359578	3	1	44	1	0	0	0	0	1	0	0	0	4571	1319	46	3	514	3	DLST	14	75359578	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	10089159	75359578	31989962	107	4192										
C14orf73	91828	broad.mit.edu	37	chr14	103568742	103568742	+	Frame_Shift_Del	DEL	C	C	-													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	aggaggaagcccacccttctCcccccgacgacggcgacttc							TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:103568742delC	ENST00000380069.3	+	2	758	c.682delC	c.(682-684)cccfs	p.P229fs		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	229					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CCACCCTTCTCCCCCCGACGA	0.771																																						ENST00000380069.3																			0				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						c.(682-684)ccfs		exocyst complex component 3-like 4							4	4	4					14																	103568742		1974	3925	5899	SO:0001589	frameshift_variant	91828							g.chr14:103568742delC	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.682delC	14.37:g.103568742delC	ENSP00000369409:p.Pro229fs		Somatic					p.P229fs	NM_001077594.1	NP_001071062.1	WXS	Illumina GAIIx	Phase_I	Q17RC7	EX3L4_HUMAN			2	758	+			229					Q14CR2	Frame_Shift_Del	DEL	ENST00000380069.3	37	c.682delC	CCDS32163.1																																																																																				0.771	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		4	5						4	5	---	---	---	---	-	103568742	C	-	103568742	7	5	44	1	0	1	0	1	0	0	0	0	1781	855	30	0	688	0	C14orf73	14	103568742	Frame_Shift_Del	DEL	C	TCGA-NA-A4R1-01A-11D-A28R-08	28209164	103568742	3780798	108	4193										
KLC1	3831	broad.mit.edu	37	chr14	104124027	104124027	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	agaaactgcagaagagtgagCagtctgtggctcaactggag	14	7	2	4			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:104124027C>T	ENST00000348520.6	+	3	725	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	KLC1_ENST00000554280.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000380038.3_Nonsense_Mutation_p.Q136*|KLC1_ENST00000445352.4_Nonsense_Mutation_p.Q136*|KLC1_ENST00000553286.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000452929.2_Nonsense_Mutation_p.Q136*|KLC1_ENST00000557575.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000347839.6_Nonsense_Mutation_p.Q136*|KLC1_ENST00000557450.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000246489.7_Nonsense_Mutation_p.Q136*|KLC1_ENST00000555836.1_Nonsense_Mutation_p.Q136*|RP11-73M18.2_ENST00000472726.2_Nonsense_Mutation_p.Q308*|KLC1_ENST00000389744.4_Nonsense_Mutation_p.Q136*|KLC1_ENST00000334553.6_Nonsense_Mutation_p.Q136*	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	136					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)		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)				GAAGAGTGAGCAGTCTGTGGC	0.507																																						ENST00000389744.4																		KLC1/ALK(2)	0				NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12						c.(406-408)Cag>Tag		kinesin light chain 1							99	83	88					14																	104124027		2203	4300	6503	SO:0001587	stop_gained	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104124027C>T	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.406C>T	14.37:g.104124027C>T	ENSP00000341154:p.Gln136*		Somatic				KLC1_ENST00000555836.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000347839.6_Nonsense_Mutation_p.Q136*|RP11-73M18.2_ENST00000472726.2_Nonsense_Mutation_p.Q308*|KLC1_ENST00000452929.2_Nonsense_Mutation_p.Q136*|KLC1_ENST00000348520.6_Nonsense_Mutation_p.Q136*|KLC1_ENST00000553286.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000554280.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000557575.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000334553.6_Nonsense_Mutation_p.Q136*|KLC1_ENST00000445352.4_Nonsense_Mutation_p.Q136*|KLC1_ENST00000380038.3_Nonsense_Mutation_p.Q136*|KLC1_ENST00000246489.7_Nonsense_Mutation_p.Q136*|KLC1_ENST00000557450.1_Nonsense_Mutation_p.Q136*	p.Q136*			WXS	Illumina GAIIx	Phase_I	Q07866	KLC1_HUMAN			3	675	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	136					A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Nonsense_Mutation	SNP	ENST00000348520.6	37	c.406C>T	CCDS41996.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974544	0.92919	.	.	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	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-22.1838	19.7433	0.96241	0.0:1.0:0.0:0.0	.	.	.	.	X	136;136;136;136;136;136;136;136;136;136;136;136;136;136;136;308	.	ENSP00000246489:Q136X	Q	+	1	0	KLC1;RP11-73M18.2	103193780	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.733000	0.93635	0.655000	0.94253	CAG		0.507	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		27	74	0	0	0	1	0	27	74					T	104124027	C	T	104124027	4	4	44	1	0	0	0	0	0	1	0	0	8342	711	25	3	412	3	KLC1	14	104124027	Nonsense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	555285	104124027	3225513	109	4194										
FMN1	342184	broad.mit.edu	37	chr15	33261469	33261469	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ctttcacagggcttgaggaaGgtctctctgtctgtctggac	12	10	5	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr15:33261469G>T	ENST00000559047.1	-	5	2432	c.2433C>A	c.(2431-2433)acC>acA	p.T811T	SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000334528.9_Silent_p.T588T|FMN1_ENST00000561249.1_Silent_p.T713T			Q68DA7	FMN1_HUMAN	formin 1	811	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)		GCTTGAGGAAGGTCTCTCTGT	0.473																																						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.(1762-1764)acC>acA		formin 1							419	386	397					15																	33261469		2000	4170	6170	SO:0001819	synonymous_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261469G>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.2433C>A	15.37:g.33261469G>T			Somatic				FMN1_ENST00000559047.1_Silent_p.T811T|FMN1_ENST00000561249.1_Silent_p.T713T	p.T588T	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	1763	-		all_lung(180;1.14e-07)	811			Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37	c.1764C>A																																																																																					0.473	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		5	190	1	0	0.000602214	1	0.000615979	5	190					T	33261469	G	T	33261469	2	4	44	1	0	0	0	0	0	0	0	1	5957	987	35	5		5	FMN1	15	33261469	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08		33261469	69269923	110	4195										
LTK	4058	broad.mit.edu	37	chr15	41796335	41796336	+	Frame_Shift_Ins	INS	-	-	G													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gactcagttcctggggctgtINSgggggtcttaggcactccaa							TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr15:41796335_41796336insG	ENST00000263800.6	-	20	2549_2550	c.2453_2454insC	c.(2452-2454)ccafs	p.P818fs	LTK_ENST00000561619.1_Frame_Shift_Ins_p.P516fs|LTK_ENST00000453182.2_Frame_Shift_Ins_p.P688fs|LTK_ENST00000355166.5_Frame_Shift_Ins_p.P757fs	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	818					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)		CCTGGGGCTGTGGGGGTCTTAG	0.604										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.(2452-2454)ccafs		leukocyte receptor tyrosine kinase																																				SO:0001589	frameshift_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.chr15:41796335_41796336insG	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.2454dupC	15.37:g.41796340_41796340dupG	ENSP00000263800:p.Pro818fs	TSP Lung(18;0.14)	Somatic				LTK_ENST00000355166.5_Frame_Shift_Ins_p.P757fs|LTK_ENST00000561619.1_Frame_Shift_Ins_p.P516fs|LTK_ENST00000453182.2_Frame_Shift_Ins_p.P688fs	p.P818fs	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)	20	2549_2550	-		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)	818					A6NNJ8|B4DL89|E9PFX4	Frame_Shift_Ins	INS	ENST00000263800.6	37	c.2453_2454insC	CCDS10077.1																																																																																				0.604	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			20	20						20	20	---	---	---	---	G	41796336	-	G	41796335	7	5	44	1	0	1	1	0	0	0	0	0	9089	1683	59	0	144	0	LTK	15	41796335	Frame_Shift_Ins	INS	-	TCGA-NA-A4R1-01A-11D-A28R-08	8534866	41796335	60735057	111	4196										
TGM5	9333	broad.mit.edu	37	chr15	43544969	43544969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	cctcctacctgtgcacatgaCggcagcaaagacccagcatt	8	15	0	2	rs144575810		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr15:43544969C>T	ENST00000220420.5	-	6	857	c.850G>A	c.(850-852)Gtc>Atc	p.V284I	TGM5_ENST00000349114.4_Missense_Mutation_p.V202I	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	284					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GTGCACATGACGGCAGCAAAG	0.587													C|||	1	0.000199681	0	0	5008	,	,		18492	0		0.001	False		,,,				2504	0					ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(850-852)Gtc>Atc		transglutaminase 5	L-Glutamine(DB00130)	C	ILE/VAL,ILE/VAL	0,4404		0,0,2202	71	71	71		604,850	2.8	0.8	15	dbSNP_134	71	11,8587	8.4+/-32.0	0,11,4288	yes	missense,missense	TGM5	NM_004245.3,NM_201631.3	29,29	0,11,6490	TT,TC,CC		0.1279,0.0,0.0846	benign,benign	202/639,284/721	43544969	11,12991	2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43544969C>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.850G>A	15.37:g.43544969C>T	ENSP00000220420:p.Val284Ile		Somatic				TGM5_ENST00000349114.4_Missense_Mutation_p.V202I	p.V284I	NM_201631.3	NP_963925.2	WXS	Illumina GAIIx	Phase_I	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	6	857	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	284					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.850G>A	CCDS32212.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.54	3.413962	0.62511	0.0	0.001279	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.89552	-2.53;-2.53	4.88	2.8	0.32819	Transglutaminase, conserved site (1);Transglutaminase-like (2);	0.066395	0.64402	N	0.000015	D	0.89781	0.6814	M	0.84156	2.68	0.30747	N	0.745526	D;P	0.53745	0.962;0.689	P;B	0.47015	0.534;0.384	D	0.87466	0.2411	10	0.62326	D	0.03	-24.7397	9.5312	0.39196	0.0:0.8609:0.0:0.1391	.	202;284	O43548-2;O43548	.;TGM5_HUMAN	I	284;202;283	ENSP00000220420:V284I;ENSP00000220419:V202I	ENSP00000220420:V284I	V	-	1	0	TGM5	41332261	1.000000	0.71417	0.785000	0.31869	0.968000	0.65278	4.662000	0.61525	0.434000	0.26340	0.655000	0.94253	GTC		0.587	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		102	2	0	0	0	1	0	102	2					T	43544969	C	T	43544969	3	4	44	1	0	0	0	0	1	0	0	0	15848	536	19	1	1344	1	TGM5	15	43544969	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	1748634	43544969	58986423	112	4197										
TGM7	116179	broad.mit.edu	37	chr15	43574783	43574783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	atcctggtgggagatctttcCggatcatccagcactcattc	9	12	3	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr15:43574783C>T	ENST00000452443.2	-	8	1044	c.1040G>A	c.(1039-1041)cGg>cAg	p.R347Q		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	347					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GAGATCTTTCCGGATCATCCA	0.552																																						ENST00000452443.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39						c.(1039-1041)cGg>cAg		transglutaminase 7	L-Glutamine(DB00130)						84	71	75					15																	43574783		2202	4299	6501	SO:0001583	missense	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43574783C>T	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1040G>A	15.37:g.43574783C>T	ENSP00000389466:p.Arg347Gln		Somatic					p.R347Q	NM_052955.2	NP_443187.1	WXS	Illumina GAIIx	Phase_I	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	8	1044	-		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)	347						Missense_Mutation	SNP	ENST00000452443.2	37	c.1040G>A	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221975	0.95139	.	.	ENSG00000159495	ENST00000452443	T	0.56103	0.48	5.03	4.1	0.47936	Transglutaminase-like (2);	0.062472	0.64402	D	0.000006	T	0.71525	0.3350	M	0.79343	2.45	0.33388	D	0.575684	D	0.89917	1.0	D	0.87578	0.998	T	0.81747	-0.0791	10	0.87932	D	0	-21.259	12.9232	0.58245	0.1636:0.8364:0.0:0.0	.	347	Q96PF1	TGM7_HUMAN	Q	347	ENSP00000389466:R347Q	ENSP00000389466:R347Q	R	-	2	0	TGM7	41362075	0.680000	0.27605	1.000000	0.80357	0.995000	0.86356	5.790000	0.69038	1.232000	0.43678	0.591000	0.81541	CGG		0.552	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		3	2	0	0	0	1	0	3	2					T	43574783	C	T	43574783	3	4	44	1	0	0	0	0	1	0	0	0	15850	652	23	1	1116	1	TGM7	15	43574783	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	29814	43574783	58956609	113	4198										
AKAP13	11214	broad.mit.edu	37	chr15	86122535	86122535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gattgtggagtaaagggcacGgaaggcctttcgtcctgtgg	16	7	0	0	rs140888795	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr15:86122535G>A	ENST00000394518.2	+	7	1331	c.1236G>A	c.(1234-1236)acG>acA	p.T412T	AKAP13_ENST00000361243.2_Silent_p.T412T|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	412					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						TAAAGGGCACGGAAGGCCTTT	0.512																																					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.(1234-1236)acG>acA		A kinase (PRKA) anchor protein 13		G	,	0,4404		0,0,2202	73	80	78		1236,1236	-5.4	0	15	dbSNP_134	78	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous,coding-synonymous	AKAP13	NM_006738.4,NM_007200.3	,	0,3,6498	AA,AG,GG		0.0349,0.0,0.0231	,	412/2818,412/2814	86122535	3,12999	2202	4299	6501	SO:0001819	synonymous_variant	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.chr15:86122535G>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.1236G>A	15.37:g.86122535G>A			Somatic				RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Silent_p.T412T	p.T412T	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	WXS	Illumina GAIIx	Phase_I	Q12802	AKP13_HUMAN			7	1331	+			412					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.1236G>A	CCDS32319.1																																																																																				0.512	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		42	44	0	0	0	1	0	42	44					A	86122535	G	A	86122535	2	1	44	1	0	0	0	0	0	0	0	1	449	1103	39	1		1	AKAP13	15	86122535	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	42547752	86122535	16408857	114	4199										
AKAP13	11214	broad.mit.edu	37	chr15	86259071	86259071	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gtcctcctggtggatgaaacCgctaccaccccaatatttgc	8	14	0	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr15:86259071C>T	ENST00000394518.2	+	20	5747	c.5652C>T	c.(5650-5652)acC>acT	p.T1884T	AKAP13_ENST00000361243.2_Silent_p.T1888T|AKAP13_ENST00000394510.2_Silent_p.T129T|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	1884					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						TGGATGAAACCGCTACCACCC	0.517																																					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.(5650-5652)acC>acT		A kinase (PRKA) anchor protein 13							154	121	133					15																	86259071		2202	4299	6501	SO:0001819	synonymous_variant	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.chr15:86259071C>T	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.5652C>T	15.37:g.86259071C>T			Somatic				AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.T1888T|AKAP13_ENST00000394510.2_Silent_p.T129T	p.T1884T	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	WXS	Illumina GAIIx	Phase_I	Q12802	AKP13_HUMAN			20	5747	+			1884					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.5652C>T	CCDS32319.1																																																																																				0.517	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		14	47	0	0	0	1	0	14	47					T	86259071	C	T	86259071	2	4	44	1	0	0	0	0	0	0	0	1	449	639	23	1		1	AKAP13	15	86259071	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	136536	86259071	16272321	115	4200										
HAGHL	84264	broad.mit.edu	37	chr16	778930	778930	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ccgccgcggcaagagggtggGgggggagggaacaggcttcg	22	9	0	1	rs552145125|rs555429162	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:778930G>T	ENST00000341413.4	+	7	916	c.635G>T	c.(634-636)gGg>gTg	p.G212V	HAGHL_ENST00000564545.1_3'UTR|HAGHL_ENST00000561546.1_Intron|HAGHL_ENST00000549114.1_3'UTR|CCDC78_ENST00000293889.6_5'Flank|HAGHL_ENST00000389703.3_Intron|HAGHL_ENST00000564537.1_3'UTR|NARFL_ENST00000562862.1_5'Flank			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	212							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			lung(3)	3		Hepatocellular(780;0.00335)				AAGAGGGTGGGGGGGGAGGGA	0.652																																					Pancreas(46;538 1326 12403 32360)	ENST00000341413.4																			0				lung(3)	3						c.(634-636)gGg>gTg		hydroxyacylglutathione hydrolase-like							4	5	5					16																	778930		2022	4092	6114	SO:0001583	missense	84264						hydrolase activity|metal ion binding	g.chr16:778930G>T	AK054841	CCDS32354.1	16p13.3	2008-02-05	2003-11-04						14177	protein-coding gene	gene with protein product			"hydroxyacyl glutathione hydrolase-like"			12477932	Standard	XM_005255629		Approved	MGC2605	uc002cjo.1	Q6PII5		ENST00000341413.4:c.635G>T	16.37:g.778930G>T	ENSP00000341952:p.Gly212Val		Somatic				HAGHL_ENST00000564537.1_3'UTR|HAGHL_ENST00000549114.1_3'UTR|HAGHL_ENST00000564545.1_3'UTR|HAGHL_ENST00000561546.1_Intron|HAGHL_ENST00000389703.3_Intron	p.G212V			WXS	Illumina GAIIx	Phase_I	Q6PII5	HAGHL_HUMAN			7	916	+		Hepatocellular(780;0.00335)	212					A6NCC4|D3DU64|Q59FX8|Q96BZ3|Q96NR5|Q96S11|Q9BT45	Missense_Mutation	SNP	ENST00000341413.4	37	c.635G>T		.	.	.	.	.	.	.	.	.	.	G	14.23	2.471967	0.43942	.	.	ENSG00000103253	ENST00000341413	D	0.95885	-3.84	3.68	0.535	0.17133	.	0.289077	0.30538	N	0.009407	D	0.93844	0.8031	.	.	.	0.09310	N	0.999995	D	0.57899	0.981	P	0.56960	0.81	D	0.86037	0.1517	9	0.31617	T	0.26	.	2.8274	0.05489	0.2437:0.0:0.5346:0.2217	.	212	Q6PII5	HAGHL_HUMAN	V	212	ENSP00000341952:G212V	ENSP00000341952:G212V	G	+	2	0	HAGHL	718931	0.000000	0.05858	0.004000	0.12327	0.032000	0.12392	-0.419000	0.07071	0.304000	0.22809	0.561000	0.74099	GGG		0.652	HAGHL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409607.1	NM_032304		4	2	1	0	0.000602214	1	0.000615979	4	2					T	778930	G	T	778930	3	4	44	1	0	0	0	0	1	0	0	0	6955	1232	43	5	657	5	HAGHL	16	778930	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08		778930	89575823	116	4201										
CACNA1H	8912	broad.mit.edu	37	chr16	1270130	1270130	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	cgctccccacggcccgccagCgtccgcactcgtaagcatac	9	20	0	0	rs375020212		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:1270130C>T	ENST00000348261.5	+	35	6446	c.6198C>T	c.(6196-6198)agC>agT	p.S2066S	CACNA1H_ENST00000358590.4_Silent_p.S2060S|CACNA1H_ENST00000565831.1_Silent_p.S2060S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2066					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)	GGCCCGCCAGCGTCCGCACTC	0.721																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(6196-6198)agC>agT		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)	C	,	4,3930		0,4,1963	12	16	15		6180,6198	-1.4	0	16		15	1,8253		0,1,4126	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	0,5,6089	TT,TC,CC		0.0121,0.1017,0.041	,	2060/2348,2066/2354	1270130	5,12183	1967	4127	6094	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1270130C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.6198C>T	16.37:g.1270130C>T			Somatic				CACNA1H_ENST00000358590.4_Silent_p.S2060S|CACNA1H_ENST00000565831.1_Silent_p.S2060S	p.S2066S	NM_021098.2	NP_066921.2	WXS	Illumina GAIIx	Phase_I	O95180	CAC1H_HUMAN			35	6446	+		Hepatocellular(780;0.00369)	2066					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.6198C>T	CCDS45375.1																																																																																				0.721	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		16	4	0	0	0	1	0	16	4					T	1270130	C	T	1270130	2	4	44	1	0	0	0	0	0	0	0	1	2547	767	27	1		1	CACNA1H	16	1270130	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	491200	1270130	89084623	117	4202										
PTX4	390667	broad.mit.edu	37	chr16	1536186	1536186	+	Frame_Shift_Del	DEL	G	G	-													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	cccagcacgagggaccctccGggggggatctcatagccctc					rs148668779		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:1536186delG	ENST00000447419.2	-	3	1216	c.1191delC	c.(1189-1191)cccfs	p.P397fs	PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Frame_Shift_Del_p.P392fs			Q96A99	PTX4_HUMAN	pentraxin 4, long	397	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.G393fs*57(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGGACCCTCCGGGGGGGATCT	0.667																																						ENST00000447419.2																			1	Deletion - Frameshift(1)	p.G393fs*57(1)	ovary(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(1189-1191)ccfs		pentraxin 4, long							29	31	30					16																	1536186		2199	4300	6499	SO:0001589	frameshift_variant	390667					extracellular region	metal ion binding	g.chr16:1536186delG		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1191delC	16.37:g.1536186delG	ENSP00000445277:p.Pro397fs		Somatic				PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Frame_Shift_Del_p.P392fs	p.P397fs			WXS	Illumina GAIIx	Phase_I	Q96A99	PTX4_HUMAN			3	1216	-			397			Pentaxin.			Frame_Shift_Del	DEL	ENST00000447419.2	37	c.1191delC																																																																																					0.667	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		30	47						30	47	---	---	---	---	-	1536186	G	-	1536186	7	5	44	1	0	1	0	1	0	0	0	0	12838	1103	39	0	248	0	PTX4	16	1536186	Frame_Shift_Del	DEL	G	TCGA-NA-A4R1-01A-11D-A28R-08	266056	1536186	88818567	118	4203										
MAPK8IP3	23162	broad.mit.edu	37	chr16	1817236	1817236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gcatggctgttgtgtacgacCgcgtgtggtgtggctacaag	16	8	0	0	rs201670194		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:1817236C>T	ENST00000250894.4	+	26	3329	c.3172C>T	c.(3172-3174)Cgc>Tgc	p.R1058C	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R1052C	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1058					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TGTGTACGACCGCGTGTGGTG	0.627													C|||	1	0.000199681	0	0.0014	5008	,	,		18044	0		0	False		,,,				2504	0					ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(3172-3174)Cgc>Tgc		mitogen-activated protein kinase 8 interacting protein 3		C	CYS/ARG,CYS/ARG	0,4306		0,0,2153	76	89	84		3154,3172	4	1	16		84	7,8509		0,7,4251	yes	missense,missense	MAPK8IP3	NM_001040439.1,NM_015133.3	180,180	0,7,6404	TT,TC,CC		0.0822,0.0,0.0546	probably-damaging,probably-damaging	1052/1331,1058/1337	1817236	7,12815	2153	4258	6411	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1817236C>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3172C>T	16.37:g.1817236C>T	ENSP00000250894:p.Arg1058Cys		Somatic				MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R1052C	p.R1058C	NM_015133.3	NP_055948.2	WXS	Illumina GAIIx	Phase_I	Q9UPT6	JIP3_HUMAN			26	3329	+			1058					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.3172C>T	CCDS10442.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	18.85	3.711655	0.68730	0.0	8.22E-4	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.72835	-0.69;-0.69	4.03	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.061553	0.64402	D	0.000009	T	0.71056	0.3295	L	0.29908	0.895	0.80722	D	1	B;D;D	0.76494	0.159;0.997;0.999	B;P;P	0.58266	0.043;0.836;0.794	T	0.75079	-0.3444	10	0.87932	D	0	-15.1386	12.4581	0.55716	0.168:0.832:0.0:0.0	.	1059;1052;1058	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	C	1058;1052	ENSP00000250894:R1058C;ENSP00000348290:R1052C	ENSP00000250894:R1058C	R	+	1	0	MAPK8IP3	1757237	1.000000	0.71417	0.986000	0.45419	0.617000	0.37484	4.645000	0.61404	1.976000	0.57569	0.591000	0.81541	CGC		0.627	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		46	122	0	0	0	1	0	46	122					T	1817236	C	T	1817236	3	4	44	1	0	0	0	0	1	0	0	0	9295	652	23	1	3290	1	MAPK8IP3	16	1817236	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	281050	1817236	88537517	119	4204										
CREBBP	1387	broad.mit.edu	37	chr16	3900479	3900479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gagatccattcatgacttgcGcctgcccttgtgaagcctga	10	12	1	4			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:3900479G>A	ENST00000262367.5	-	2	1426	c.617C>T	c.(616-618)gCg>gTg	p.A206V	CREBBP_ENST00000382070.3_Missense_Mutation_p.A206V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	206					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)		CATGACTTGCGCCTGCCCTTG	0.552			"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.(616-618)gCg>gTg		CREB binding protein							107	100	102					16																	3900479		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.chr16:3900479G>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.617C>T	16.37:g.3900479G>A	ENSP00000262367:p.Ala206Val		Somatic				CREBBP_ENST00000382070.3_Missense_Mutation_p.A206V	p.A206V	NM_004380.2	NP_004371.2	WXS	Illumina GAIIx	Phase_I	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	2	1426	-		Ovarian(90;0.0266)	206					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.617C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485260	0.63962	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83335	-1.71;-1.65	6.01	5.04	0.67666	.	0.068872	0.64402	D	0.000012	T	0.77980	0.4212	N	0.14661	0.345	0.40636	D	0.981902	D;D	0.64830	0.993;0.994	P;P	0.52424	0.698;0.448	T	0.80127	-0.1512	10	0.51188	T	0.08	-14.5801	13.4741	0.61297	0.0:0.3679:0.6321:0.0	.	274;206	Q4LE28;Q92793	.;CBP_HUMAN	V	206;274;206	ENSP00000262367:A206V;ENSP00000371502:A206V	ENSP00000262367:A206V	A	-	2	0	CREBBP	3840480	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.294000	0.51787	2.861000	0.98227	0.650000	0.86243	GCG		0.552	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		27	48	0	0	0	1	0	27	48					A	3900479	G	A	3900479	3	1	44	1	0	0	0	0	1	0	0	0	3863	1087	38	1	6831	1	CREBBP	16	3900479	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	2083243	3900479	86454274	120	4205										
XYLT1	64131	broad.mit.edu	37	chr16	17292083	17292083	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ccttacctgatggggtagtcGgccgcactcaggttgatgaa	13	10	1	3	rs149300797		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:17292083G>A	ENST00000261381.6	-	5	1359	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	425					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						TGGGGTAGTCGGCCGCACTCA	0.622													G|||	1	0.000199681	0	0.0014	5008	,	,		15672	0		0	False		,,,				2504	0					ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1273-1275)gcC>gcT		xylosyltransferase I		G		0,4394		0,0,2197	69	61	64		1275	-5.7	0.8	16	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	XYLT1	NM_022166.3		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		425/960	17292083	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17292083G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1275C>T	16.37:g.17292083G>A			Somatic					p.A425A	NM_022166.3	NP_071449.1	WXS	Illumina GAIIx	Phase_I	Q86Y38	XYLT1_HUMAN			5	1359	-			425					Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.1275C>T	CCDS10569.1																																																																																				0.622	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		11	66	0	0	0	1	0	11	66					A	17292083	G	A	17292083	2	1	44	1	0	0	0	0	0	0	0	1	17478	1103	39	1		1	XYLT1	16	17292083	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	13391604	17292083	73062670	121	4206										
USP31	57478	broad.mit.edu	37	chr16	23080502	23080502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gaccagagagcgggggcaggCggtccccttgtgctgaatgt	17	10	0	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:23080502C>T	ENST00000219689.7	-	16	2923	c.2924G>A	c.(2923-2925)cGc>cAc	p.R975H	USP31_ENST00000567975.1_Missense_Mutation_p.R268H	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.R975H(1)		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)		CGGGGGCAGGCGGTCCCCTTG	0.517																																						ENST00000219689.7																			1	Substitution - Missense(1)	p.R975H(1)	lung(1)	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.(2923-2925)cGc>cAc		ubiquitin specific peptidase 31							75	80	78					16																	23080502		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080502C>T	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2924G>A	16.37:g.23080502C>T	ENSP00000219689:p.Arg975His		Somatic				USP31_ENST00000567975.1_Missense_Mutation_p.R268H	p.R975H	NM_020718.3	NP_065769.3	WXS	Illumina GAIIx	Phase_I	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	2923	-			975			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.2924G>A	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	2.410	-0.335620	0.05278	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.08102	3.13	6.06	-1.47	0.08772	.	.	.	.	.	T	0.04907	0.0132	N	0.19112	0.55	0.09310	N	1	B;B;B	0.18013	0.025;0.001;0.001	B;B;B	0.08055	0.003;0.0;0.002	T	0.40720	-0.9548	9	0.33141	T	0.24	0.1173	7.1687	0.25706	0.0:0.5708:0.1076:0.3215	.	278;975;268	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	H	975;278	ENSP00000219689:R975H	ENSP00000219689:R975H	R	-	2	0	USP31	22988003	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-0.223000	0.09177	-0.508000	0.06540	-1.000000	0.02509	CGC		0.517	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		40	52	0	0	0	1	0	40	52					T	23080502	C	T	23080502	3	4	44	1	0	0	0	0	1	0	0	0	17077	768	27	1	1138	1	USP31	16	23080502	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	5788419	23080502	67274251	122	4207										
PRPF8	10594	broad.mit.edu	37	chr17	1582969	1582969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	agcgtaggttgaagggccgcGgggcccagagcagggcaatg	19	9	0	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:1582969G>A	ENST00000572621.1	-	8	1488	c.1223C>T	c.(1222-1224)cCg>cTg	p.P408L	PRPF8_ENST00000304992.6_Missense_Mutation_p.P408L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	408					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GAAGGGCCGCGGGGCCCAGAG	0.572																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(1222-1224)cCg>cTg		pre-mRNA processing factor 8							127	129	128					17																	1582969		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1582969G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1223C>T	17.37:g.1582969G>A	ENSP00000460348:p.Pro408Leu		Somatic				PRPF8_ENST00000304992.6_Missense_Mutation_p.P408L	p.P408L			WXS	Illumina GAIIx	Phase_I	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	8	1488	-			408					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.1223C>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	34	5.399499	0.96030	.	.	ENSG00000174231	ENST00000304992	D	0.82803	-1.65	5.73	5.73	0.89815	PROCN (1);	0.000000	0.85682	D	0.000000	D	0.93245	0.7848	H	0.94582	3.555	0.80722	D	1	D	0.59767	0.986	P	0.60236	0.871	D	0.94523	0.7729	10	0.87932	D	0	-6.8261	19.9025	0.96993	0.0:0.0:1.0:0.0	.	408	Q6P2Q9	PRP8_HUMAN	L	408	ENSP00000304350:P408L	ENSP00000304350:P408L	P	-	2	0	PRPF8	1529719	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.835000	0.99442	2.722000	0.93159	0.655000	0.94253	CCG		0.572	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			97	5	0	0	0	1	0	97	5					A	1582969	G	A	1582969	3	1	44	1	0	0	0	0	1	0	0	0	12587	1116	39	1	5924	1	PRPF8	17	1582969	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08		1582969	79612241	123	4208										
CXCL16	400569	broad.mit.edu	37	chr17	4638656	4638656	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	atcctactgggagggtggggCgctgagtggactgcaaggtg	19	7	0	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:4638656C>T	ENST00000293777.5	+	0	833				RP11-314A20.5_ENST00000570493.2_RNA|CXCL16_ENST00000576153.1_5'UTR|CXCL16_ENST00000293778.6_Missense_Mutation_p.R169H|CXCL16_ENST00000574412.1_Missense_Mutation_p.R169H	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						GAGGGTGGGGCGCTGAGTGGA	0.597																																						ENST00000293778.6																			0				large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(505-507)cGc>cAc		chemokine (C-X-C motif) ligand 16							68	67	67					17																	4638656		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.chr17:4638656C>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.4638656C>T			Somatic				CXCL16_ENST00000574412.1_Missense_Mutation_p.R169H|CXCL16_ENST00000576153.1_5'UTR	p.R169H	NM_022059.2	NP_071342.2	WXS	Illumina GAIIx	Phase_I	Q9H2A7	CXL16_HUMAN			4	928	-			150					Q6NS89	Missense_Mutation	SNP	ENST00000293777.5	37	c.506G>A	CCDS32533.1	.	.	.	.	.	.	.	.	.	.	C	8.647	0.897237	0.17686	.	.	ENSG00000161921	ENST00000293778	T	0.31769	1.48	3.73	-0.366	0.12545	.	1.780110	0.02681	N	0.109688	T	0.12518	0.0304	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14090	-1.0485	10	0.29301	T	0.29	-0.0022	0.547	0.00655	0.2117:0.1294:0.2173:0.4417	.	150	Q9H2A7	CXL16_HUMAN	H	169	ENSP00000293778:R169H	ENSP00000293778:R169H	R	-	2	0	CXCL16	4585405	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.736000	0.04882	0.103000	0.17682	-0.424000	0.05967	CGC		0.597	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		3	24	0	0	0	1	0	3	24					T	4638656	C	T	4638656	1	4	44	0	1	0	0	0	0	0	0	0	4085	768	27	1		1	CXCL16	17	4638656	IGR	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	3055687	4638656	76556554	124	4209										
TP53	7157	broad.mit.edu	37	chr17	7577534	7577534	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gtgatgatggtgaggatgggCctccggttcatgccgcccat	15	10	1	3	rs28934571		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:7577534C>A	ENST00000269305.4	-	7	936	c.747G>T	c.(745-747)agG>agT	p.R249S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000359597.4_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000420246.2_Missense_Mutation_p.R249S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGAGGATGGGCCTCCGGTTCA	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"		378	Substitution - Missense(348)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Substitution - coding silent(5)|Insertion - Frameshift(1)|Insertion - In frame(1)|Deletion - Frameshift(1)|Complex - compound substitution(1)	p.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(1)	liver(240)|lung(44)|upper_aerodigestive_tract(12)|breast(12)|central_nervous_system(10)|stomach(7)|ovary(6)|prostate(6)|cervix(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(5)|biliary_tract(5)|urinary_tract(5)|bone(4)|endometrium(3)|oesophagus(3)|skin(2)|peritoneum(1)|kidney(1)|salivary_gland(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.(745-747)agG>agT	Other conserved DNA damage response genes	tumor protein p53							155	113	127					17																	7577534		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.chr17:7577534C>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.747G>T	17.37:g.7577534C>A	ENSP00000269305:p.Arg249Ser	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.R249S|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000269305.4_Missense_Mutation_p.R249S|TP53_ENST00000359597.4_Missense_Mutation_p.R249S	p.R249S	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	879	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	249		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.747G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344264	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99865	-7.29;-7.29;-7.29;-7.29;-7.29;-7.29;-7.29	4.62	-0.0929	0.13654	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	0.99792	0.9912	M	0.92367	3.3	0.50039	D	0.999848	D;D;D;D;D	0.89917	0.996;0.996;0.997;0.99;1.0	D;D;D;D;D	0.79108	0.968;0.966;0.981;0.955;0.992	D	0.98720	1.0708	10	0.72032	D	0.01	-3.0658	3.2479	0.06803	0.1392:0.5551:0.1362:0.1695	rs28934571	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	S	249;249;249;249;249;249;238;117	ENSP00000410739:R249S;ENSP00000352610:R249S;ENSP00000269305:R249S;ENSP00000398846:R249S;ENSP00000391127:R249S;ENSP00000391478:R249S;ENSP00000425104:R117S	ENSP00000269305:R249S	R	-	3	2	TP53	7518259	0.011000	0.17503	0.998000	0.56505	0.783000	0.44284	-1.379000	0.02554	0.253000	0.21552	0.462000	0.41574	AGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	1	1	0	7.33628e-21	1	8.0564e-21	21	1					A	7577534	C	A	7577534	3	1	44	1	0	0	0	0	1	0	0	0	16396	738	26	5	543	5	TP53	17	7577534	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	2938878	7577534	73617676	125	4210										
SRCIN1	80725	broad.mit.edu	37	chr17	36707584	36707584	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	atgtccttggcactgtactgGgtcagggctgcccgcttctc	12	13	2	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:36707584G>T	ENST00000264659.7	-	15	2993	c.2769C>A	c.(2767-2769)acC>acA	p.T923T	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Silent_p.T957T	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	795					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CACTGTACTGGGTCAGGGCTG	0.617																																						ENST00000264659.7																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						c.(2767-2769)acC>acA		SRC kinase signaling inhibitor 1							42	46	45					17																	36707584		2120	4238	6358	SO:0001819	synonymous_variant	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36707584G>T		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"p130Cas-associated protein", "SNAP-25-interacting protein"	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2769C>A	17.37:g.36707584G>T			Somatic				SRCIN1_ENST00000578925.1_Silent_p.T957T|SRCIN1_ENST00000398579.4_5'UTR	p.T923T	NM_025248.2	NP_079524.2	WXS	Illumina GAIIx	Phase_I	Q9C0H9	SRCN1_HUMAN			15	2993	-			795					Q75T46|Q8N4W8	Silent	SNP	ENST00000264659.7	37	c.2769C>A	CCDS45660.1																																																																																				0.617	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		20	20	1	0	1.96292e-10	1	2.07907e-10	20	20					T	36707584	G	T	36707584	2	4	44	1	0	0	0	0	0	0	0	1	15151	1219	43	5		5	SRCIN1	17	36707584	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	29130050	36707584	44487626	126	4211										
HELZ	9931	broad.mit.edu	37	chr17	65134211	65134211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tccttcttaactcttctacaCgttccaccacttcaaacacc	1	17	4	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:65134211C>T	ENST00000358691.5	-	22	2955	c.2789G>A	c.(2788-2790)cGt>cAt	p.R930H	HELZ_ENST00000580168.1_Missense_Mutation_p.R931H	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	930						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)					CTCTTCTACACGTTCCACCAC	0.368																																						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.(2788-2790)cGt>cAt		helicase with zinc finger							127	123	124					17																	65134211		2083	4218	6301	SO:0001583	missense	9931							g.chr17:65134211C>T	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.2789G>A	17.37:g.65134211C>T	ENSP00000351524:p.Arg930His		Somatic				HELZ_ENST00000580168.1_Missense_Mutation_p.R931H	p.R930H	NM_014877.3	NP_055692.2	WXS	Illumina GAIIx	Phase_I					22	2955	-	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.2789G>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013139	0.54468	.	.	ENSG00000198265	ENST00000358691	D	0.92348	-3.02	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.93514	0.7930	L	0.28344	0.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.99	D	0.94607	0.7801	10	0.72032	D	0.01	-13.4607	18.8583	0.92262	0.0:1.0:0.0:0.0	.	931;930	B7ZLW2;P42694	.;HELZ_HUMAN	H	930	ENSP00000351524:R930H	ENSP00000351524:R930H	R	-	2	0	HELZ	62564673	1.000000	0.71417	0.977000	0.42913	0.963000	0.63663	7.487000	0.81328	2.437000	0.82529	0.655000	0.94253	CGT		0.368	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		48	2	0	0	0	1	0	48	2					T	65134211	C	T	65134211	3	4	44	1	0	0	0	0	1	0	0	0	7058	536	19	1	3087	1	HELZ	17	65134211	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	28426627	65134211	16060999	127	4212										
ATP5H	10476	broad.mit.edu	37	chr17	73036197	73036197	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	aactacttacatcttcttttTcttcggcatccacctgggca	5	13	3	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:73036197T>C	ENST00000301587.4	-	4	328	c.281A>G	c.(280-282)gAa>gGa	p.E94G	KCTD2_ENST00000584767.1_Intron|KCTD2_ENST00000581589.1_Intron|RN7SL573P_ENST00000485340.2_RNA|ATP5H_ENST00000344546.4_Intron	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	94					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)					ATCTTCTTTTTCTTCGGCATC	0.408																																						ENST00000301587.4																			0				lung(1)|skin(1)	2						c.(280-282)gAa>gGa		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d							208	217	214					17																	73036197		2203	4300	6503	SO:0001583	missense	10476				ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity	g.chr17:73036197T>C	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.281A>G	17.37:g.73036197T>C	ENSP00000301587:p.Glu94Gly		Somatic				KCTD2_ENST00000581589.1_Intron|ATP5H_ENST00000344546.4_Intron|KCTD2_ENST00000584767.1_Intron	p.E94G	NM_006356.2	NP_006347.1	WXS	Illumina GAIIx	Phase_I	O75947	ATP5H_HUMAN			4	328	-	all_lung(278;0.226)		94					B2R5L6|Q9H3J4	Missense_Mutation	SNP	ENST00000301587.4	37	c.281A>G	CCDS11712.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.471889	0.84533	.	.	ENSG00000167863	ENST00000538432;ENST00000301587	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.84142	0.5407	M	0.91300	3.195	0.80722	D	1	D	0.62365	0.991	D	0.66602	0.945	D	0.86311	0.1686	9	0.42905	T	0.14	.	15.298	0.73925	0.0:0.0:0.0:1.0	.	94	O75947	ATP5H_HUMAN	G	94	.	ENSP00000301587:E94G	E	-	2	0	ATP5H	70547792	1.000000	0.71417	0.995000	0.50966	0.870000	0.49936	6.670000	0.74467	2.097000	0.63578	0.460000	0.39030	GAA		0.408	ATP5H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445318.1	NM_006356		124	80	0	0	0	1	0	124	80					C	73036197	T	C	73036197	3	2	44	1	0	0	0	0	1	0	0	0	1156	1783	62	4	216	4	ATP5H	17	73036197	Missense_Mutation	SNP	T	TCGA-NA-A4R1-01A-11D-A28R-08	7901986	73036197	8159013	128	4213										
KIAA0195	9772	broad.mit.edu	37	chr17	73492436	73492436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	acgccaccagcatcagcatgGcccaggcctcggatggcctt	11	16	1	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:73492436G>A	ENST00000314256.7	+	24	3521	c.3127G>A	c.(3127-3129)Gcc>Acc	p.A1043T	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Missense_Mutation_p.A1053T|KIAA0195_ENST00000579208.1_Missense_Mutation_p.A694T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1043						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)			CATCAGCATGGCCCAGGCCTC	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.(3127-3129)Gcc>Acc		KIAA0195							98	82	87					17																	73492436		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.chr17:73492436G>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.3127G>A	17.37:g.73492436G>A	ENSP00000313885:p.Ala1043Thr		Somatic				KIAA0195_ENST00000579208.1_Missense_Mutation_p.A694T|KIAA0195_ENST00000375248.5_Missense_Mutation_p.A1053T	p.A1043T	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)		24	3521	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1043					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.3127G>A	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656736	0.47467	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.43294	0.95;0.95	5.54	5.54	0.83059	ATPase, P-type,  transmembrane domain (1);	0.316231	0.34932	N	0.003569	T	0.13114	0.0318	N	0.01874	-0.695	0.32418	N	0.549776	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.08055	0.001;0.003;0.003;0.001	T	0.33394	-0.9870	10	0.02654	T	1	-32.6406	5.6279	0.17492	0.1801:0.1689:0.6511:0.0	.	1053;1053;1043;1043	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	T	1043;1053	ENSP00000313885:A1043T;ENSP00000364397:A1053T	ENSP00000313885:A1043T	A	+	1	0	KIAA0195	71004031	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.019000	0.57181	2.768000	0.95171	0.561000	0.74099	GCC		0.617	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		15	131	0	0	0	1	0	15	131					A	73492436	G	A	73492436	3	1	44	1	0	0	0	0	1	0	0	0	8169	1203	42	3	3217	3	KIAA0195	17	73492436	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	456239	73492436	7702774	129	4214										
TYMS	7298	broad.mit.edu	37	chr18	672902	672902	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tcccaaagctcaggattcttCgaaaagttgagaaaattgat	8	7	2	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr18:672902C>T	ENST00000323274.10	+	7	986	c.847C>T	c.(847-849)Cga>Tga	p.R283*	TYMS_ENST00000581920.1_3'UTR|ENOSF1_ENST00000319815.6_3'UTR|TYMS_ENST00000323224.7_Nonsense_Mutation_p.R249*|TYMS_ENST00000323250.5_Nonsense_Mutation_p.R200*|ENOSF1_ENST00000583973.1_5'Flank|ENOSF1_ENST00000383578.3_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	283					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)	p.R283*(1)		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)	CAGGATTCTTCGAAAAGTTGA	0.393																																						ENST00000323274.10																			1	Substitution - Nonsense(1)	p.R283*(1)	large_intestine(1)	endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8						c.(847-849)Cga>Tga		thymidylate synthetase	Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)						94	101	98					18																	672902		2203	4300	6503	SO:0001587	stop_gained	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.chr18:672902C>T	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.847C>T	18.37:g.672902C>T	ENSP00000315644:p.Arg283*		Somatic				TYMS_ENST00000323250.5_Nonsense_Mutation_p.R200*|TYMS_ENST00000323224.7_Nonsense_Mutation_p.R249*|ENOSF1_ENST00000383578.3_3'UTR|TYMS_ENST00000581920.1_3'UTR|ENOSF1_ENST00000319815.6_3'UTR	p.R283*	NM_001071.2	NP_001062.1	WXS	Illumina GAIIx	Phase_I	P04818	TYSY_HUMAN			7	986	+			283					Q8WYK3|Q8WYK4	Nonsense_Mutation	SNP	ENST00000323274.10	37	c.847C>T	CCDS11821.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973726	0.53720	.	.	ENSG00000176890	ENST00000323274;ENST00000323224;ENST00000323250	.	.	.	5.9	5.9	0.94986	.	0.111500	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.7752	20.2576	0.98430	0.0:1.0:0.0:0.0	.	.	.	.	X	283;249;200	.	ENSP00000314727:R249X	R	+	1	2	TYMS	662902	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.770000	0.62309	2.785000	0.95823	0.650000	0.86243	CGA		0.393	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1	NM_001071		36	37	0	0	0	1	0	36	37					T	672902	C	T	672902	4	4	44	1	0	0	0	0	0	1	0	0	16827	876	31	1	873	1	TYMS	18	672902	Nonsense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08		672902	77404346	130	4215										
DSC2	1824	broad.mit.edu	37	chr18	28651725	28651725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	aatgaagtgacactagacatGccaagtctatctctcactgt	7	10	3	3	rs397517396		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr18:28651725G>A	ENST00000280904.6	-	13	2414	c.1971C>T	c.(1969-1971)ggC>ggT	p.G657G	DSC2_ENST00000251081.6_Silent_p.G657G|snoU13_ENST00000459603.1_RNA	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	657	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CACTAGACATGCCAAGTCTAT	0.413																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(1969-1971)ggC>ggT		desmocollin 2							129	103	112					18																	28651725		2203	4300	6503	SO:0001819	synonymous_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28651725G>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1971C>T	18.37:g.28651725G>A			Somatic				DSC2_ENST00000251081.6_Silent_p.G657G	p.G657G	NM_024422.3	NP_077740.1	WXS	Illumina GAIIx	Phase_I	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		13	2414	-			657			Cadherin 5.			Silent	SNP	ENST00000280904.6	37	c.1971C>T	CCDS11892.1																																																																																				0.413	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		14	16	0	0	0	1	0	14	16					A	28651725	G	A	28651725	2	1	44	1	0	0	0	0	0	0	0	1	4768	1306	46	3		3	DSC2	18	28651725	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	27978823	28651725	49425523	131	4216										
C18orf26	284254	broad.mit.edu	37	chr18	52265364	52265364	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	cctataactgttgcacctacCgatcatttataatttgaaca	4	10	1	1	rs373983597		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr18:52265364C>T	ENST00000321600.1	+	3	667	c.621C>T	c.(619-621)acC>acT	p.T207T	DYNAP_ENST00000585973.1_Silent_p.T155T	NM_173629.1	NP_775900.1	Q8N1N2	DYNAP_HUMAN	dynactin associated protein	207	Thr-rich.				activation of protein kinase B activity (GO:0032148)|cellular response to ergosterol (GO:1901625)|positive regulation of cell proliferation (GO:0008284)|regulation of apoptotic process (GO:0042981)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TTGCACCTACCGATCATTTAT	0.428																																						ENST00000321600.1																			0											c.(619-621)acC>acT		dynactin associated protein		C		0,4404		0,0,2202	67	64	65		621	1.5	0	18		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C18orf26	NM_173629.1		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		207/211	52265364	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	284254							g.chr18:52265364C>T	AK096425	CCDS11957.1	18q21.2	2012-10-24	2012-10-24	2012-10-24	ENSG00000178690	ENSG00000178690			26808	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 26"	C18orf26		20978158	Standard	NM_173629		Approved	FLJ39106	uc002lfq.1	Q8N1N2	OTTHUMG00000132709	ENST00000321600.1:c.621C>T	18.37:g.52265364C>T			Somatic				DYNAP_ENST00000585973.1_Silent_p.T155T	p.T207T	NM_173629.1	NP_775900.1	WXS	Illumina GAIIx	Phase_I					3	667	+									Silent	SNP	ENST00000321600.1	37	c.621C>T	CCDS11957.1																																																																																				0.428	DYNAP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256007.1	NM_173629		35	44	0	0	0	1	0	35	44					T	52265364	C	T	52265364	2	4	44	1	0	0	0	0	0	0	0	1	1902	639	23	1		1	C18orf26	18	52265364	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	23613639	52265364	25811884	132	4217										
ALPK2	115701	broad.mit.edu	37	chr18	56274661	56274661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ttataccaagttacctctggCttgggctgacctgacaataa	8	10	1	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr18:56274661C>T	ENST00000361673.3	-	3	333	c.120G>A	c.(118-120)aaG>aaA	p.K40K		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	40	Ig-like 1.					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						TTACCTCTGGCTTGGGCTGAC	0.348																																						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.(118-120)aaG>aaA		alpha-kinase 2							63	59	60					18																	56274661		1866	4103	5969	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56274661C>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.120G>A	18.37:g.56274661C>T			Somatic					p.K40K	NM_052947.3	NP_443179.3	WXS	Illumina GAIIx	Phase_I	Q86TB3	ALPK2_HUMAN			3	333	-			40			Ig-like 1.		Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.120G>A	CCDS11966.2																																																																																				0.348	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		16	18	0	0	0	1	0	16	18					T	56274661	C	T	56274661	2	4	44	1	0	0	0	0	0	0	0	1	545	796	28	3		3	ALPK2	18	56274661	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	4009297	56274661	21802587	133	4218										
SMARCA4	6597	broad.mit.edu	37	chr19	11141533	11141534	+	Frame_Shift_Del	DEL	TG	TG	-													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	aacctccagtcggcagacacTgtgatcatttttgacagcga							TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:11141533_11141534delTG	ENST00000429416.3	+	26	3791_3792	c.3510_3511delTG	c.(3508-3513)actgtgfs	p.V1171fs	SMARCA4_ENST00000589677.1_Frame_Shift_Del_p.V1171fs|SMARCA4_ENST00000450717.3_Frame_Shift_Del_p.V1171fs|SMARCA4_ENST00000590574.1_Frame_Shift_Del_p.V1171fs|SMARCA4_ENST00000413806.3_Frame_Shift_Del_p.V1171fs|SMARCA4_ENST00000358026.2_Frame_Shift_Del_p.V1171fs|SMARCA4_ENST00000444061.3_Frame_Shift_Del_p.V1171fs|SMARCA4_ENST00000344626.4_Frame_Shift_Del_p.V1171fs|SMARCA4_ENST00000541122.2_Frame_Shift_Del_p.V1171fs	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1171	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|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 transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGGCAGACACTGTGATCATTTT	0.599			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3508-3513)actgfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4																																				SO:0001589	frameshift_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11141533_11141534delTG	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3510_3511delTG	19.37:g.11141535_11141536delTG	ENSP00000395654:p.Val1171fs		Somatic				SMARCA4_ENST00000590574.1_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000541122.2_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000429416.3_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000444061.3_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000450717.3_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000589677.1_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000344626.4_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000413806.3_Frame_Shift_Del_p.TV1170fs	p.TV1170fs	NM_001128849.1	NP_001122321.1	WXS	Illumina GAIIx	Phase_I	P51532	SMCA4_HUMAN			25	3794_3795	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1170			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Frame_Shift_Del	DEL	ENST00000429416.3	37	c.3510_3511delTG	CCDS12253.1																																																																																				0.599	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		9	1						9	1	---	---	---	---	-	11141534	TG	-	11141533	7	5	44	1	0	1	0	1	0	0	0	0	14785	1567	55	0	3604	0	SMARCA4	19	11141533	Frame_Shift_Del	DEL	TG	TCGA-NA-A4R1-01A-11D-A28R-08		11141533	47987450	134	4219										
ZNF536	9745	broad.mit.edu	37	chr19	31040264	31040264	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	caagcccaggaccccttggcGggcctgccaaagccggagcg	14	16	0	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:31040264G>A	ENST00000355537.3	+	4	3885	c.3738G>A	c.(3736-3738)gcG>gcA	p.A1246A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1246					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.A1246A(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)					ACCCCTTGGCGGGCCTGCCAA	0.632																																						ENST00000355537.3																			1	Substitution - coding silent(1)	p.A1246A(1)	endometrium(1)	NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(3736-3738)gcG>gcA		zinc finger protein 536							18	20	19					19																	31040264		2199	4291	6490	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040264G>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.3738G>A	19.37:g.31040264G>A			Somatic					p.A1246A	NM_014717.1	NP_055532.1	WXS	Illumina GAIIx	Phase_I	O15090	ZN536_HUMAN			4	3885	+	Esophageal squamous(110;0.0834)		1246					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3738G>A	CCDS32984.1																																																																																				0.632	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		36	20	0	0	0	1	0	36	20					A	31040264	G	A	31040264	2	1	44	1	0	0	0	0	0	0	0	1	17989	1103	39	1		1	ZNF536	19	31040264	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	19898731	31040264	28088719	135	4220										
FCGBP	8857	broad.mit.edu	37	chr19	40368843	40368843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tgaaatccgcccgtcggccaCggagacaggcaaggctgtga	14	12	0	3			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:40368843C>T	ENST00000221347.6	-	28	12512	c.12505G>A	c.(12505-12507)Gtg>Atg	p.V4169M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4169	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCGTCGGCCACGGAGACAGGC	0.617																																						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.(12505-12507)Gtg>Atg		Fc fragment of IgG binding protein							178	176	176					19																	40368843		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40368843C>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.12505G>A	19.37:g.40368843C>T	ENSP00000221347:p.Val4169Met		Somatic					p.V4169M	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)		28	12512	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4169			VWFD 10.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12505G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550705	0.45383	.	.	ENSG00000090920	ENST00000221347	T	0.59364	0.27	3.92	-1.47	0.08772	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.47691	0.1459	M	0.68952	2.095	0.09310	N	1	B	0.31174	0.311	B	0.30855	0.121	T	0.38542	-0.9656	9	0.34782	T	0.22	.	3.7069	0.08404	0.5498:0.2309:0.1288:0.0906	.	4169	Q9Y6R7	FCGBP_HUMAN	M	4169	ENSP00000221347:V4169M	ENSP00000221347:V4169M	V	-	1	0	FCGBP	45060683	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.221000	0.09202	-0.231000	0.09825	0.305000	0.20034	GTG		0.617	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		28	320	0	0	0	1	0	28	320					T	40368843	C	T	40368843	3	4	44	1	0	0	0	0	1	0	0	0	5786	536	19	1	3748	1	FCGBP	19	40368843	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	9328579	40368843	18760140	136	4221										
ZNF574	64763	broad.mit.edu	37	chr19	42584536	42584536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gcgttttcaccgtccttaccGcctgctcatgcaccgctacc	7	18	2	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:42584536G>A	ENST00000600245.1	+	2	2433	c.1778G>A	c.(1777-1779)cGc>cAc	p.R593H	ZNF574_ENST00000359044.4_Missense_Mutation_p.R593H|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.R683H			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	593					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CGTCCTTACCGCCTGCTCATG	0.612																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1777-1779)cGc>cAc		zinc finger protein 574							88	76	80					19																	42584536		2203	4300	6503	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584536G>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.1778G>A	19.37:g.42584536G>A	ENSP00000469029:p.Arg593His		Somatic				ZNF574_ENST00000222339.7_Missense_Mutation_p.R683H|ZNF574_ENST00000359044.4_Missense_Mutation_p.R593H	p.R593H			WXS	Illumina GAIIx	Phase_I	Q6ZN55	ZN574_HUMAN			2	2433	+		Prostate(69;0.059)	593					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.1778G>A	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189408	0.57909	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.14391	2.51;2.51	5.42	4.39	0.52855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.071450	0.53938	D	0.000050	T	0.04452	0.0122	N	0.00960	-1.095	0.40501	D	0.980648	B;B	0.25007	0.028;0.116	B;B	0.16722	0.006;0.016	T	0.40459	-0.9562	10	0.16896	T	0.51	-26.6503	13.0591	0.58997	0.0791:0.0:0.9209:0.0	.	593;682	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	H	683;593;200	ENSP00000222339:R683H;ENSP00000351939:R593H	ENSP00000222339:R683H	R	+	2	0	ZNF574	47276376	0.050000	0.20438	1.000000	0.80357	0.983000	0.72400	1.075000	0.30716	1.288000	0.44600	-0.142000	0.14014	CGC		0.612	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		41	86	0	0	0	1	0	41	86					A	42584536	G	A	42584536	3	1	44	1	0	0	0	0	1	0	0	0	18021	1087	38	1	1780	1	ZNF574	19	42584536	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	2215693	42584536	16544447	137	4222										
PRKD2	25865	broad.mit.edu	37	chr19	47207822	47207822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	agtggccactggccagagacGtggatgacaggcgccgtttg	16	10	0	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:47207822G>A	ENST00000291281.4	-	4	821	c.596C>T	c.(595-597)aCg>aTg	p.T199M	PRKD2_ENST00000433867.1_Missense_Mutation_p.T199M|PRKD2_ENST00000601806.1_Missense_Mutation_p.T42M|PRKD2_ENST00000595515.1_Missense_Mutation_p.T199M|PRKD2_ENST00000600194.1_Missense_Mutation_p.T42M			Q9BZL6	KPCD2_HUMAN	protein kinase D2	199					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)		GGCCAGAGACGTGGATGACAG	0.667											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(595-597)aCg>aTg		protein kinase D2							37	41	40					19																	47207822		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.chr19:47207822G>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.596C>T	19.37:g.47207822G>A	ENSP00000291281:p.Thr199Met		Somatic	OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	PRKD2_ENST00000595515.1_Missense_Mutation_p.T199M|PRKD2_ENST00000600194.1_Missense_Mutation_p.T42M|PRKD2_ENST00000601806.1_Missense_Mutation_p.T42M|PRKD2_ENST00000291281.4_Missense_Mutation_p.T199M	p.T199M	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	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)	5	1073	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	199					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.596C>T	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550245	0.65311	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.66815	-0.23;-0.23	5.26	5.26	0.73747	.	0.153060	0.40818	N	0.001004	T	0.52565	0.1742	L	0.36672	1.1	0.43824	D	0.996394	B;B	0.33777	0.302;0.425	B;B	0.26416	0.043;0.069	T	0.54741	-0.8248	10	0.41790	T	0.15	-27.7789	11.1893	0.48675	0.0862:0.0:0.9138:0.0	.	199;199	E7ER94;Q9BZL6	.;KPCD2_HUMAN	M	199	ENSP00000291281:T199M;ENSP00000393978:T199M	ENSP00000291281:T199M	T	-	2	0	PRKD2	51899662	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	3.353000	0.52247	2.447000	0.82792	0.313000	0.20887	ACG		0.667	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		14	79	0	0	0	1	0	14	79					A	47207822	G	A	47207822	3	1	44	1	0	0	0	0	1	0	0	0	12531	1145	40	1	2100	1	PRKD2	19	47207822	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	4623286	47207822	11921161	138	4223										
BCAT2	587	broad.mit.edu	37	chr19	49303509	49303509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gagccaggggcggaagaggcGcacctgctggtctttgcctt	16	11	1	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:49303509G>A	ENST00000316273.6	-	4	358	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	BCAT2_ENST00000597011.1_Missense_Mutation_p.R76C|BCAT2_ENST00000599246.1_Missense_Mutation_p.R24C|BCAT2_ENST00000545387.2_Missense_Mutation_p.R24C|BCAT2_ENST00000402551.1_Missense_Mutation_p.R76C|BCAT2_ENST00000598162.1_Missense_Mutation_p.R116C	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	116					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)	CGGAAGAGGCGCACCTGCTGG	0.657																																						ENST00000402551.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12						c.(226-228)Cgc>Tgc		branched chain amino-acid transaminase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)						52	52	52					19																	49303509		2203	4300	6503	SO:0001583	missense	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49303509G>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.346C>T	19.37:g.49303509G>A	ENSP00000322991:p.Arg116Cys		Somatic				BCAT2_ENST00000545387.2_Missense_Mutation_p.R24C|BCAT2_ENST00000598162.1_Missense_Mutation_p.R116C|BCAT2_ENST00000597011.1_Missense_Mutation_p.R76C|BCAT2_ENST00000316273.6_Missense_Mutation_p.R116C|BCAT2_ENST00000599246.1_Missense_Mutation_p.R24C	p.R76C			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)	5	846	-		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)	116					B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	ENST00000316273.6	37	c.226C>T	CCDS12735.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341556	0.81911	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.19669	2.13;2.13;2.13	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.986;0.993;0.998;0.993	T	0.56896	-0.7903	10	0.66056	D	0.02	-9.9201	15.3587	0.74453	0.0:0.0:1.0:0.0	.	76;116;24;116	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	C	116;24;76	ENSP00000322991:R116C;ENSP00000440973:R24C;ENSP00000385161:R76C	ENSP00000322991:R116C	R	-	1	0	BCAT2	53995321	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	6.796000	0.75145	2.282000	0.76494	0.561000	0.74099	CGC		0.657	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			19	99	0	0	0	1	0	19	99					A	49303509	G	A	49303509	3	1	44	1	0	0	0	0	1	0	0	0	1355	1087	38	1	864	1	BCAT2	19	49303509	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	2095687	49303509	9825474	139	4224										
MYBPC2	4606	broad.mit.edu	37	chr19	50963425	50963425	+	Frame_Shift_Del	DEL	A	A	-													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	atttcgtccagaaagcagacAaaaaaaccatggtgagagag							TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:50963425delA	ENST00000357701.5	+	24	2971	c.2920delA	c.(2920-2922)aaafs	p.K975fs		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	975	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAAAGCAGACAAAAAAACCAT	0.592																																						ENST00000357701.5																			0				breast(1)	1						c.(2920-2922)aafs		myosin binding protein C, fast type							25	27	26					19																	50963425		1948	4125	6073	SO:0001589	frameshift_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50963425delA		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.2920delA	19.37:g.50963425delA	ENSP00000350332:p.Lys975fs		Somatic					p.K975fs	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)	24	2971	+		all_neural(266;0.057)	975			Fibronectin type-III 3.		A1L4G9	Frame_Shift_Del	DEL	ENST00000357701.5	37	c.2920delA	CCDS46152.1																																																																																				0.592	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		7	23						7	23	---	---	---	---	-	50963425	A	-	50963425	7	5	44	1	0	1	0	1	0	0	0	0	10021	131	5	0	3014	0	MYBPC2	19	50963425	Frame_Shift_Del	DEL	A	TCGA-NA-A4R1-01A-11D-A28R-08	1659916	50963425	8165558	140	4225										
FPR3	2359	broad.mit.edu	37	chr19	52327267	52327267	+	Frame_Shift_Del	DEL	A	A	-													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ggtctcagtcgccatgagagAaaaatggccttttggctcat							TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:52327267delA	ENST00000339223.4	+	2	445	c.266delA	c.(265-267)gaafs	p.E89fs	FPR3_ENST00000595991.1_Frame_Shift_Del_p.E89fs	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	89					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GCCATGAGAGAAAAATGGCCT	0.458																																						ENST00000339223.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(265-267)gafs		formyl peptide receptor 3							132	106	114					19																	52327267		2203	4300	6503	SO:0001589	frameshift_variant	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327267delA		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"GPCR / Class A : Formyl peptide receptors"	3828	protein-coding gene	gene with protein product		136539	"formyl peptide receptor-like 2"	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.266delA	19.37:g.52327267delA	ENSP00000341821:p.Glu89fs		Somatic				FPR3_ENST00000595991.1_Frame_Shift_Del_p.E89fs	p.E89fs	NM_002030.3	NP_002021.3	WXS	Illumina GAIIx	Phase_I	P25089	FPR3_HUMAN			2	445	+			89						Frame_Shift_Del	DEL	ENST00000339223.4	37	c.266delA	CCDS12841.1																																																																																				0.458	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		56	231						56	231	---	---	---	---	-	52327267	A	-	52327267	7	5	44	1	0	1	0	1	0	0	0	0	6048	246	9	0	268	0	FPR3	19	52327267	Frame_Shift_Del	DEL	A	TCGA-NA-A4R1-01A-11D-A28R-08	1363842	52327267	6801716	141	4226										
ZNF83	55769	broad.mit.edu	37	chr19	53116462	53116462	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	catttgaaaggtttctctccAgtgtgaattttccgatgatg	9	7	1	3			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:53116462A>G	ENST00000597597.1	-	2	3609	c.1356T>C	c.(1354-1356)acT>acC	p.T452T	ZNF83_ENST00000301096.3_Silent_p.T452T|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Silent_p.T452T|ZNF83_ENST00000541777.2_Silent_p.T452T|ZNF83_ENST00000536937.1_Silent_p.T452T|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000544146.1_Silent_p.T452T|ZNF83_ENST00000391789.4_Silent_p.T424T			P51522	ZNF83_HUMAN	zinc finger protein 83	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		GTTTCTCTCCAGTGTGAATTT	0.388																																						ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1354-1356)acT>acC		zinc finger protein 83							113	112	112					19																	53116462		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116462A>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.1356T>C	19.37:g.53116462A>G			Somatic				ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Silent_p.T452T|ZNF83_ENST00000541777.2_Silent_p.T452T|ZNF83_ENST00000536937.1_Silent_p.T452T|ZNF83_ENST00000545872.1_Silent_p.T452T|ZNF83_ENST00000301096.3_Silent_p.T452T|ZNF83_ENST00000391789.4_Silent_p.T424T	p.T452T			WXS	Illumina GAIIx	Phase_I	P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3609	-			452					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.1356T>C	CCDS12854.1																																																																																				0.388	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		41	211	0	0	0	1	0	41	211					G	53116462	A	G	53116462	2	3	44	1	0	0	0	0	0	0	0	1	18198	175	7	4		4	ZNF83	19	53116462	Silent	SNP	A	TCGA-NA-A4R1-01A-11D-A28R-08	789195	53116462	6012521	142	4227										
ZNF71	58491	broad.mit.edu	37	chr19	57133398	57133398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ctacgcgtgcggggactgcgGcaaggccttcagccagaaca	14	13	1	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:57133398G>A	ENST00000328070.6	+	3	977	c.743G>A	c.(742-744)gGc>gAc	p.G248D		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		GGGGACTGCGGCAAGGCCTTC	0.662																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(742-744)gGc>gAc		zinc finger protein 71							57	55	56					19																	57133398		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133398G>A	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"Zinc fingers, C2H2-type"	13141	protein-coding gene	gene with protein product		194545	"zinc finger protein 71 (Cos26)"			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.743G>A	19.37:g.57133398G>A	ENSP00000328245:p.Gly248Asp		Somatic					p.G248D	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	977	+			248					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.743G>A	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810317	0.90707	.	.	ENSG00000197951	ENST00000328070	T	0.20069	2.1	3.82	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33147	0.0853	N	0.26162	0.8	0.43745	D	0.996245	D	0.89917	1.0	D	0.97110	1.0	T	0.21586	-1.0241	9	0.87932	D	0	.	14.6514	0.68800	0.0:0.0:1.0:0.0	.	248	Q9NQZ8	ZNF71_HUMAN	D	248	ENSP00000328245:G248D	ENSP00000328245:G248D	G	+	2	0	ZNF71	61825210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.570000	0.53834	1.958000	0.56883	0.561000	0.74099	GGC		0.662	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		44	86	0	0	0	1	0	44	86					A	57133398	G	A	57133398	3	1	44	1	0	0	0	0	1	0	0	0	18129	1203	42	3	745	3	ZNF71	19	57133398	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	4016936	57133398	1995585	143	4228										
FOXA2	3170	broad.mit.edu	37	chr20	22563241	22563241	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ttgaaggagagcgagtggcgGatggagttctgccagcgctg	18	7	1	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr20:22563241G>C	ENST00000377115.4	-	3	802	c.621C>G	c.(619-621)atC>atG	p.I207M	FOXA2_ENST00000419308.2_Missense_Mutation_p.I213M	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	207					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GCGAGTGGCGGATGGAGTTCT	0.617																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(619-621)atC>atG		forkhead box A2							55	58	57					20																	22563241		2203	4300	6503	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563241G>C	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.621C>G	20.37:g.22563241G>C	ENSP00000366319:p.Ile207Met		Somatic				FOXA2_ENST00000377115.4_Missense_Mutation_p.I207M|FOXA2_ENST00000319993.4_Missense_Mutation_p.I213M	p.I207M	NM_021784.4	NP_068556.2	WXS	Illumina GAIIx	Phase_I	Q9Y261	FOXA2_HUMAN			2	823	-	Lung NSC(19;0.188)		207					Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.621C>G	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.408991	0.62399	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.97811	-4.55;-4.55;-4.55	4.98	4.03	0.46877	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	0.000010	D	0.99180	0.9716	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.98813	1.0744	10	0.87932	D	0	.	13.2905	0.60269	0.0784:0.0:0.9216:0.0	.	207;213	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	M	207;207;213;93	ENSP00000366319:I207M;ENSP00000400341:I207M;ENSP00000315955:I213M	ENSP00000315955:I213M	I	-	3	3	FOXA2	22511241	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.412000	0.52679	1.102000	0.41551	-0.211000	0.12701	ATC		0.617	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			61	30	0	0	0	1	0	61	30					C	22563241	G	C	22563241	3	2	44	1	0	0	0	0	1	0	0	0	5998	1164	41	2	756	2	FOXA2	20	22563241	Missense_Mutation	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08		22563241	40462279	144	4229										
HNF4A	3172	broad.mit.edu	37	chr20	43043173	43043173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tcccccgtctccgggatcaaCggcgacattcgggcgaagaa	12	14	2	1	rs557888367		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr20:43043173C>T	ENST00000316099.4	+	5	608	c.519C>T	c.(517-519)aaC>aaT	p.N173N	HNF4A_ENST00000443598.2_Silent_p.N173N|HNF4A_ENST00000457232.1_Silent_p.N151N|HNF4A_ENST00000609795.1_Silent_p.N151N|HNF4A_ENST00000316673.4_Silent_p.N151N|HNF4A_ENST00000415691.2_Silent_p.N173N	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	173					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)			CCGGGATCAACGGCGACATTC	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		19361	0		0	False		,,,				2504	0				Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(517-519)aaC>aaT		hepatocyte nuclear factor 4, alpha							87	76	80					20																	43043173		2203	4300	6503	SO:0001819	synonymous_variant	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43043173C>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.519C>T	20.37:g.43043173C>T			Somatic				HNF4A_ENST00000415691.1_Silent_p.N173N|HNF4A_ENST00000443598.2_Silent_p.N173N|HNF4A_ENST00000457232.1_Silent_p.N151N	p.N173N	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	WXS	Illumina GAIIx	Phase_I	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		5	608	+		Myeloproliferative disorder(115;0.0122)	173					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	ENST00000316099.4	37	c.519C>T	CCDS13330.1																																																																																				0.582	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			25	47	0	0	0	1	0	25	47					T	43043173	C	T	43043173	2	4	44	1	0	0	0	0	0	0	0	1	7262	535	19	1		1	HNF4A	20	43043173	Silent	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	20479932	43043173	19982347	145	4230										
TUBB1	81027	broad.mit.edu	37	chr20	57599552	57599552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ggtggctgtctgcgacatccCgccccgggggctgagcatgg	17	13	1	1	rs200564118		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr20:57599552C>T	ENST00000217133.1	+	4	1339	c.1070C>T	c.(1069-1071)cCg>cTg	p.P357L		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	357					'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)			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)	TGCGACATCCCGCCCCGGGGG	0.552																																						ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(1069-1071)cCg>cTg		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						51	50	50					20																	57599552		2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57599552C>T	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.1070C>T	20.37:g.57599552C>T	ENSP00000217133:p.Pro357Leu		Somatic					p.P357L	NM_030773.3	NP_110400.1	WXS	Illumina GAIIx	Phase_I	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	1339	+	all_lung(29;0.00711)		357						Missense_Mutation	SNP	ENST00000217133.1	37	c.1070C>T	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359821	0.61403	.	.	ENSG00000101162	ENST00000217133	D	0.83075	-1.68	5.54	5.54	0.83059	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95095	0.8411	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96880	0.9645	10	0.87932	D	0	.	18.4559	0.90720	0.0:1.0:0.0:0.0	.	357	Q9H4B7	TBB1_HUMAN	L	357	ENSP00000217133:P357L	ENSP00000217133:P357L	P	+	2	0	TUBB1	57032947	1.000000	0.71417	0.947000	0.38551	0.014000	0.08584	7.818000	0.86416	2.614000	0.88457	0.655000	0.94253	CCG		0.552	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		32	48	0	0	0	1	0	32	48					T	57599552	C	T	57599552	3	4	44	1	0	0	0	0	1	0	0	0	16768	652	23	1	1084	1	TUBB1	20	57599552	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	14556379	57599552	5425968	146	4231										
CDH26	60437	broad.mit.edu	37	chr20	58587675	58587675	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gtggaggggccccatccctcAgctctctggccagcttggaa	13	14	2	0			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr20:58587675A>G	ENST00000244047.5	+	15	2483				CDH26_ENST00000244049.3_Missense_Mutation_p.S89G|CDH26_ENST00000348616.4_Missense_Mutation_p.S797G|CDH26_ENST00000350849.6_Missense_Mutation_p.S130G|CDH26_ENST00000497614.1_3'UTR			Q8IXH8	CAD26_HUMAN	cadherin 26						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCCATCCCTCAGCTCTCTGGC	0.537																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(2389-2391)Agc>Ggc		cadherin 26							96	94	95					20																	58587675		2203	4300	6503	SO:0001627	intron_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58587675A>G	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.2172+5833A>G	20.37:g.58587675A>G			Somatic				CDH26_ENST00000244049.3_Missense_Mutation_p.S89G|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_Missense_Mutation_p.S130G|CDH26_ENST00000244047.5_Intron	p.S797G	NM_177980.2	NP_817089.1	WXS	Illumina GAIIx	Phase_I	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		18	2689	+	all_lung(29;0.00963)		256					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.2389A>G		.	.	.	.	.	.	.	.	.	.	A	13.01	2.109525	0.37242	.	.	ENSG00000124215	ENST00000348616;ENST00000244049;ENST00000350849	T;D;D	0.87491	0.03;-2.26;-2.26	3.63	-0.0445	0.13855	.	.	.	.	.	T	0.71745	0.3376	.	.	.	0.09310	N	1	P;P;B	0.34639	0.461;0.461;0.27	B;B;B	0.28849	0.095;0.095;0.059	T	0.58025	-0.7709	8	0.19590	T	0.45	.	4.7885	0.13236	0.447:0.4382:0.1148:0.0	.	89;130;797	Q8IXH8-5;Q8IXH8-2;Q8IXH8-4	.;.;.	G	797;89;130	ENSP00000339390:S797G;ENSP00000244049:S89G;ENSP00000310845:S130G	ENSP00000244049:S89G	S	+	1	0	CDH26	58021070	0.000000	0.05858	0.001000	0.08648	0.103000	0.19146	-0.191000	0.09601	-0.030000	0.13804	0.377000	0.23210	AGC		0.537	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		65	35	0	0	0	1	0	65	35					G	58587675	A	G	58587675	1	3	44	0	1	0	0	0	0	0	0	0	3112	188	7	4		4	CDH26	20	58587675	Intron	SNP	A	TCGA-NA-A4R1-01A-11D-A28R-08	988123	58587675	4437845	147	4232										
CHRNA4	1137	broad.mit.edu	37	chr20	61981956	61981956	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gtgatcttctcgccacactcGgagggcaggtagaagaccag	13	11	2	3	rs201335931		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr20:61981956G>A	ENST00000370263.4	-	5	1028	c.807C>T	c.(805-807)tcC>tcT	p.S269S	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	269					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CGCCACACTCGGAGGGCAGGT	0.602																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(805-807)tcC>tcT		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						244	184	204					20																	61981956		2203	4300	6503	SO:0001819	synonymous_variant	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981956G>A		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.807C>T	20.37:g.61981956G>A			Somatic				CHRNA4_ENST00000463705.1_5'UTR	p.S269S	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	WXS	Illumina GAIIx	Phase_I	P43681	ACHA4_HUMAN			5	1028	-	all_cancers(38;1.71e-10)		269					Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	c.807C>T	CCDS13517.1																																																																																				0.602	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			20	83	0	0	0	1	0	20	83					A	61981956	G	A	61981956	2	1	44	1	0	0	0	0	0	0	0	1	3387	1103	39	1		1	CHRNA4	20	61981956	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	3394281	61981956	1043564	148	4233										
PFKL	5211	broad.mit.edu	37	chr21	45733884	45733885	+	Frame_Shift_Ins	INS	-	-	TG													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ggacggctgggagaacttcaINStgtgtgagaggctgggtgag							TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr21:45733884_45733885insTG	ENST00000349048.4	+	7	782_783	c.727_728insTG	c.(727-729)atgfs	p.M243fs	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000403390.1_Frame_Shift_Ins_p.M290fs	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	243	N-terminal catalytic PFK domain 1.				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)		GGAGAACTTCATGTGTGAGAGG	0.668																																						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.(868-870)gtgfs		phosphofructokinase, liver																																				SO:0001589	frameshift_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.chr21:45733884_45733885insTG		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.732_733dupTG	21.37:g.45733889_45733890dupTG	ENSP00000269848:p.Met243fs		Somatic				PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Frame_Shift_Ins_p.V243fs	p.V290fs			WXS	Illumina GAIIx	Phase_I	P17858	K6PL_HUMAN		Colorectal(79;0.0811)	8	868_869	+			243					Q96A64|Q96IH4|Q9BR91	Frame_Shift_Ins	INS	ENST00000349048.4	37	c.868_869insTG	CCDS33582.1																																																																																				0.668	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			15	10						15	10	---	---	---	---	TG	45733885	-	TG	45733884	7	5	44	1	0	1	1	0	0	0	0	0	11773	217	8	0	753	0	PFKL	21	45733884	Frame_Shift_Ins	INS	-	TCGA-NA-A4R1-01A-11D-A28R-08		45733884	2396011	149	4234										
YY2	404281	broad.mit.edu	37	chrX	21875706	21875707	+	Frame_Shift_Ins	INS	-	-	A													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tattaacgcatgtgaagaccINSaaaaacaacccgtgaaaagg							TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:21875706_21875707insA	ENST00000429584.2	+	1	1602_1603	c.1104_1105insA	c.(1105-1107)aaafs	p.K369fs	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	369	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						ATGTGAAGACCAAAAACAACCC	0.47																																						ENST00000429584.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(1102-1107)acaaaafs		YY2 transcription factor																																				SO:0001589	frameshift_variant	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875706_21875707insA	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.1109dupA	X.37:g.21875711_21875711dupA	ENSP00000389381:p.Lys369fs		Somatic				MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	p.TK368fs	NM_206923.3	NP_996806.2	WXS	Illumina GAIIx	Phase_I	O15391	TYY2_HUMAN			1	1602_1603	+			368			Mediates transcriptional repression.		B2RP10|Q6Q1S4	Frame_Shift_Ins	INS	ENST00000429584.2	37	c.1104_1105insA	CCDS14202.1																																																																																				0.47	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		117	165						117	165	---	---	---	---	A	21875707	-	A	21875706	7	5	44	1	0	1	1	0	0	0	0	0	17524	581	21	0	1106	0	YY2	23	21875706	Frame_Shift_Ins	INS	-	TCGA-NA-A4R1-01A-11D-A28R-08		21875706	133394854	150	4235										
PHF16	9767	broad.mit.edu	37	chrX	46913859	46913859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gcagagctgggtatgcccacGctagctgtggactttatcta	12	10	1	1	rs140782937	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:46913859G>A	ENST00000218343.4	+	9	1570	c.1272G>A	c.(1270-1272)acG>acA	p.T424T	PHF16_ENST00000397189.1_Silent_p.T424T	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GTATGCCCACGCTAGCTGTGG	0.493													g|||	2	0.000529801	0.0015	0	3775	,	,		13797	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.(1270-1272)acG>acA				G	,	5,3830		0,5,1627,571	59	58	58		1272,1272	-10.3	0	X	dbSNP_134	58	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous	PHF16	NM_001077445.1,NM_014735.3	,	0,5,4055,2443	AA,AG,GG,G		0.0,0.1304,0.0473	,	424/824,424/824	46913859	5,10558	2203	4300	6503	SO:0001819	synonymous_variant	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46913859G>A																												ENST00000218343.4:c.1272G>A	X.37:g.46913859G>A			Somatic				PHF16_ENST00000397189.1_Silent_p.T424T	p.T424T	NM_014735.3	NP_055550.1	WXS	Illumina GAIIx	Phase_I	Q92613	JADE3_HUMAN			9	1570	+			424						Silent	SNP	ENST00000218343.4	37	c.1272G>A	CCDS14271.1																																																																																				0.493	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			15	68	0	0	0	1	0	15	68					A	46913859	G	A	46913859	2	1	44	1	0	0	0	0	0	0	0	1	11836	1074	38	1		1	PHF16	23	46913859	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	25038153	46913859	108356701	151	4236										
KIF4A	24137	broad.mit.edu	37	chrX	69607079	69607079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	aggatgctctccagaaacaaCgggaggttgcagataagcgg	14	8	1	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:69607079C>T	ENST00000374403.3	+	20	2246	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	KIF4A_ENST00000374388.3_Missense_Mutation_p.R722W	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	722	Interaction with PRC1.				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						CCAGAAACAACGGGAGGTTGC	0.438																																						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.(2164-2166)Cgg>Tgg		kinesin family member 4A							59	48	52					X																	69607079		2197	4293	6490	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:69607079C>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.2164C>T	X.37:g.69607079C>T	ENSP00000363524:p.Arg722Trp		Somatic				KIF4A_ENST00000374388.3_Missense_Mutation_p.R722W	p.R722W	NM_012310.4	NP_036442.3	WXS	Illumina GAIIx	Phase_I	O95239	KIF4A_HUMAN			20	2246	+			722			Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.2164C>T	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522477	0.44866	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.70986	-0.53;-0.49	4.6	2.74	0.32292	.	0.581507	0.15606	N	0.253653	T	0.68265	0.2982	L	0.55481	1.735	0.22947	N	0.998528	D	0.63880	0.993	P	0.46208	0.507	T	0.60156	-0.7318	10	0.72032	D	0.01	.	10.8257	0.46631	0.5066:0.4934:0.0:0.0	.	722	O95239	KIF4A_HUMAN	W	722;722;24	ENSP00000363509:R722W;ENSP00000363524:R722W	ENSP00000363509:R722W	R	+	1	2	KIF4A	69523804	0.274000	0.24191	0.241000	0.24154	0.650000	0.38633	1.470000	0.35354	0.438000	0.26450	0.468000	0.43344	CGG		0.438	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		3	6	0	0	0	1	0	3	6					T	69607079	C	T	69607079	3	4	44	1	0	0	0	0	1	0	0	0	8312	527	19	1	2238	1	KIF4A	23	69607079	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	22693220	69607079	85663481	152	4237										
MED12	9968	broad.mit.edu	37	chrX	70344032	70344032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	accctcgaagtgagagtgagCgggtggaattctttaactta	12	7	1	2			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:70344032C>T	ENST00000374080.3	+	13	1800	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	MED12_ENST00000374102.1_Missense_Mutation_p.R590W|MED12_ENST00000333646.6_Missense_Mutation_p.R590W			Q93074	MED12_HUMAN	mediator complex subunit 12	590					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)					TGAGAGTGAGCGGGTGGAATT	0.473			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(1768-1770)Cgg>Tgg		mediator complex subunit 12							88	78	81					X																	70344032		1920	4111	6031	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:70344032C>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.1768C>T	X.37:g.70344032C>T	ENSP00000363193:p.Arg590Trp		Somatic				MED12_ENST00000374080.3_Missense_Mutation_p.R590W|MED12_ENST00000374102.1_Missense_Mutation_p.R590W	p.R590W	NM_005120.2	NP_005111.2	WXS	Illumina GAIIx	Phase_I	Q93074	MED12_HUMAN			13	1967	+	Renal(35;0.156)		590					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.1768C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	18.66	3.672095	0.67928	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	4.5	3.56	0.40772	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.142729	0.45867	D	0.000325	T	0.53334	0.1790	M	0.65498	2.005	0.49389	D	0.999781	D;D;D;D	0.76494	0.995;0.999;0.999;0.998	P;P;D;D	0.66716	0.877;0.875;0.946;0.925	T	0.57688	-0.7768	10	0.87932	D	0	-15.6622	10.9203	0.47161	0.281:0.719:0.0:0.0	.	590;437;590;590	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	W	590;590;590;590;558	ENSP00000333125:R590W;ENSP00000363215:R590W;ENSP00000363193:R590W;ENSP00000414203:R558W	ENSP00000333125:R590W	R	+	1	2	MED12	70260757	1.000000	0.71417	0.942000	0.38095	0.984000	0.73092	3.476000	0.53143	2.070000	0.61991	0.422000	0.28245	CGG		0.473	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		22	29	0	0	0	1	0	22	29					T	70344032	C	T	70344032	3	4	44	1	0	0	0	0	1	0	0	0	9437	759	27	1	1818	1	MED12	23	70344032	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	736953	70344032	84926528	153	4238										
TMSB15B	286527	broad.mit.edu	37	chrX	103219162	103219162	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	caaaactgaagaaaactaatActgaagaaaaaaatactctt	4	6	1	4			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:103219162A>G	ENST00000436583.1	+	2	1710	c.67A>G	c.(67-69)Act>Gct	p.T23A	TMSB15B_ENST00000540220.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000419165.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000569577.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000567181.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000563257.1_Missense_Mutation_p.T23A			P0CG35	TB15B_HUMAN	thymosin beta 15B	23					actin cytoskeleton organization (GO:0030036)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				skin(1)	1						GAAAACTAATACTGAAGAAAA	0.353																																						ENST00000567181.1																			0				skin(1)	1						c.(67-69)Act>Gct		thymosin beta 15B							112	91	97					X																	103219162		1568	3580	5148	SO:0001583	missense	286527				actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding	g.chrX:103219162A>G		CCDS59172.1	Xq22.2	2009-01-12			ENSG00000158427	ENSG00000158427			28612	protein-coding gene	gene with protein product						17567946	Standard	NM_194324		Approved	MGC39900	uc010noz.3	P0CG35	OTTHUMG00000022117	ENST00000436583.1:c.67A>G	X.37:g.103219162A>G	ENSP00000455771:p.Thr23Ala		Somatic				TMSB15B_ENST00000569577.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000436583.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000563257.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000540220.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000419165.1_Missense_Mutation_p.T23A	p.T23A			WXS	Illumina GAIIx	Phase_I	P0CG34	TB15A_HUMAN			2	139	+			23					A8K614|Q99406	Missense_Mutation	SNP	ENST00000436583.1	37	c.67A>G	CCDS59172.1																																																																																				0.353	TMSB15B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057752.2	NM_194324		37	34	0	0	0	1	0	37	34					G	103219162	A	G	103219162	3	3	44	1	0	0	0	0	1	0	0	0	16271	391	14	4	69	4	TMSB15B	23	103219162	Missense_Mutation	SNP	A	TCGA-NA-A4R1-01A-11D-A28R-08	32875130	103219162	52051398	154	4239										
AMOT	154796	broad.mit.edu	37	chrX	112035202	112035202	+	Frame_Shift_Del	DEL	T	T	-													0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	tgtcaacgtacacttgcttcTttttcagctggaaatccatg							TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:112035202delT	ENST00000524145.1	-	7	1858	c.1784delA	c.(1783-1785)aagfs	p.K596fs	AMOT_ENST00000371959.3_Frame_Shift_Del_p.K596fs|AMOT_ENST00000304758.1_Frame_Shift_Del_p.K187fs|AMOT_ENST00000371958.1_Frame_Shift_Del_p.K364fs|AMOT_ENST00000371962.1_Frame_Shift_Del_p.K364fs			Q4VCS5	AMOT_HUMAN	angiomotin	596					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						CACTTGCTTCTTTTTCAGCTG	0.473																																						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.(1783-1785)agfs		angiomotin							134	104	114					X																	112035202		2203	4300	6503	SO:0001589	frameshift_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112035202delT	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.1784delA	X.37:g.112035202delT	ENSP00000429013:p.Lys596fs		Somatic				AMOT_ENST00000371958.1_Frame_Shift_Del_p.K364fs|AMOT_ENST00000304758.1_Frame_Shift_Del_p.K187fs|AMOT_ENST00000524145.1_Frame_Shift_Del_p.K596fs|AMOT_ENST00000371962.1_Frame_Shift_Del_p.K364fs	p.K596fs	NM_001113490.1	NP_001106962.1	WXS	Illumina GAIIx	Phase_I	Q4VCS5	AMOT_HUMAN			6	1783	-			596					Q504X5|Q9HD27|Q9UPT1	Frame_Shift_Del	DEL	ENST00000524145.1	37	c.1784delA	CCDS48154.1																																																																																				0.473	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		18	68						18	68	---	---	---	---	-	112035202	T	-	112035202	7	5	44	1	0	1	0	1	0	0	0	0	582	1609	56	0	1494	0	AMOT	23	112035202	Frame_Shift_Del	DEL	T	TCGA-NA-A4R1-01A-11D-A28R-08	8816040	112035202	43235358	155	4240										
MAGEA3	4102	broad.mit.edu	37	chrX	151935381	151935381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	taacatgcaggatcactgccGgggacctgccggtactccag	12	13	1	0	rs370647045		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:151935381G>A	ENST00000393902.3	-	3	1353	c.786C>T	c.(784-786)ccC>ccT	p.P262P	MAGEA3_ENST00000370278.3_Silent_p.P262P			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	262	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GATCACTGCCGGGGACCTGCC	0.527																																						ENST00000393902.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(784-786)ccC>ccT		melanoma antigen family A, 3		G		0,3834		0,0,1632,570	109	110	109		786	-2.8	0	X		109	1,6721		0,1,2427,1866	no	coding-synonymous	MAGEA3	NM_005362.3		0,1,4059,2436	AA,AG,GG,G		0.0149,0.0,0.0095		262/315	151935381	1,10555	2202	4294	6496	SO:0001819	synonymous_variant	4102							g.chrX:151935381G>A		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"melanoma-associated antigen 3", "antigen MZ2-D", "MAGE-3 antigen", "cancer/testis antigen family 1, member 3"	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.786C>T	X.37:g.151935381G>A			Somatic				MAGEA3_ENST00000370278.3_Silent_p.P262P	p.P262P			WXS	Illumina GAIIx	Phase_I	P43357	MAGA3_HUMAN			3	1353	-	Acute lymphoblastic leukemia(192;6.56e-05)		262			MAGE.		Q6FHI6	Silent	SNP	ENST00000393902.3	37	c.786C>T	CCDS14715.1																																																																																				0.527	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		59	179	0	0	0	1	0	59	179					A	151935381	G	A	151935381	2	1	44	1	0	0	0	0	0	0	0	1	9176	1103	39	1		1	MAGEA3	23	151935381	Silent	SNP	G	TCGA-NA-A4R1-01A-11D-A28R-08	39900179	151935381	3335179	156	4241										
MECP2	4204	broad.mit.edu	37	chrX	153296733	153296733	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	ccccggcctctgccagttccTggagctttgggagatttggg	14	12	1	1			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:153296733T>C	ENST00000303391.6	-	4	795	c.546A>G	c.(544-546)ccA>ccG	p.P182P	MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000407218.1_Missense_Mutation_p.Q146R|MECP2_ENST00000453960.2_Silent_p.P194P	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	182					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)					TGCCAGTTCCTGGAGCTTTGG	0.602																																						ENST00000407218.1																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(436-438)cAg>cGg		methyl CpG binding protein 2 (Rett syndrome)							70	73	72					X																	153296733		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:153296733T>C	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.546A>G	X.37:g.153296733T>C			Somatic				MECP2_ENST00000303391.6_Silent_p.P182P|MECP2_ENST00000453960.2_Silent_p.P194P	p.Q146R			WXS	Illumina GAIIx	Phase_I	P51608	MECP2_HUMAN			5	622	-	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)		63			MBD.		O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	c.437A>G	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	T	1.360	-0.589114	0.03799	.	.	ENSG00000169057	ENST00000407218	D	0.96041	-3.89	5.48	4.24	0.50183	.	.	.	.	.	D	0.93723	0.7994	.	.	.	0.23227	N	0.998084	.	.	.	.	.	.	D	0.88694	0.3211	6	0.66056	D	0.02	-5.259	5.414	0.16363	0.1568:0.0:0.2805:0.5627	.	.	.	.	R	146	ENSP00000384865:Q146R	ENSP00000384865:Q146R	Q	-	2	0	MECP2	152949927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.807000	0.27140	1.829000	0.53265	0.486000	0.48141	CAG		0.602	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		5	213	0	0	0	1	0	5	213					C	153296733	T	C	153296733	2	2	44	1	0	0	0	0	0	0	0	1	9432	1567	55	4		4	MECP2	23	153296733	Silent	SNP	T	TCGA-NA-A4R1-01A-11D-A28R-08	1361352	153296733	1973827	157	4242										
F8	2157	broad.mit.edu	37	chrX	154157053	154157053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0189873417721519	3	1	0.241943053817272	0	0.244338529597641	0.1	0.605042016806723	0	gatctgactgaagagtagtaCgagttatttcccgttgatgg	12	6	1	4			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:154157053C>T	ENST00000360256.4	-	14	5212	c.5012G>A	c.(5011-5013)cGt>cAt	p.R1671H		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1671					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)	AAGAGTAGTACGAGTTATTTC	0.408																																						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	CM082643	F8	M		c.(5011-5013)cGt>cAt		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						149	124	132					X																	154157053		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:154157053C>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.5012G>A	X.37:g.154157053C>T	ENSP00000353393:p.Arg1671His		Somatic					p.R1671H	NM_000132.3	NP_000123.1	WXS	Illumina GAIIx	Phase_I	P00451	FA8_HUMAN			14	5212	-	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)		1671					Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.5012G>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	c	2.410	-0.335605	0.05278	.	.	ENSG00000185010	ENST00000360256	D	0.99080	-5.4	4.87	-6.4	0.01944	.	1.660320	0.03312	N	0.190667	D	0.93654	0.7973	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.06405	0.002	D	0.94028	0.7298	10	0.14252	T	0.57	2.7775	3.9394	0.09319	0.297:0.1225:0.4588:0.1217	.	1671	P00451	FA8_HUMAN	H	1671	ENSP00000353393:R1671H	ENSP00000353393:R1671H	R	-	2	0	F8	153810247	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	0.147000	0.16202	-1.456000	0.01921	-1.672000	0.00744	CGT		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			42	43	0	0	0	1	0	42	43					T	154157053	C	T	154157053	3	4	44	1	0	0	0	0	1	0	0	0	5352	536	19	1	2123	1	F8	23	154157053	Missense_Mutation	SNP	C	TCGA-NA-A4R1-01A-11D-A28R-08	860320	154157053	1113507	158	4243										
ARID1A	8289	broad.mit.edu	37	chr1	27100870	27100870	+	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	ggccctcctgccaagcggcaCgaaggggagatgtacagcgt	15	12	0	1	rs149908828	byFrequency	TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:27100870C>G	ENST00000324856.7	+	18	4523	c.4152C>G	c.(4150-4152)caC>caG	p.H1384Q	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.H1001Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1384	Gln-rich.				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)		CCAAGCGGCACGAAGGGGAGA	0.597			"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.(4150-4152)caC>caG		AT rich interactive domain 1A (SWI-like)							47	46	47					1																	27100870		2202	4300	6502	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.chr1:27100870C>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.4152C>G	1.37:g.27100870C>G	ENSP00000320485:p.His1384Gln		Somatic				ARID1A_ENST00000374152.2_Missense_Mutation_p.H1001Q|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron	p.H1384Q	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)	18	4523	+		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)	1384			Gln-rich.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.4152C>G	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.77|14.77	2.633180|2.633180	0.47049|0.47049	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000374152|ENST00000430799	T;T|.	0.03496|.	4.05;3.91|.	5.51|5.51	-5.76|-5.76	0.02376|0.02376	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62636|0.62636	0.2444|0.2444	L|L	0.52011|0.52011	1.625|1.625	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.85130|.	0.997;0.992;0.992|.	T|T	0.64453|0.64453	-0.6404|-0.6404	10|5	0.21540|.	T|.	0.41|.	-11.7557|-11.7557	16.4934|16.4934	0.84208|0.84208	0.0:0.5252:0.0:0.4748|0.0:0.5252:0.0:0.4748	.|.	1001;1384;1037|.	O14497-3;O14497;Q4LE49|.	.;ARI1A_HUMAN;.|.	Q|G	1384;1001|281	ENSP00000320485:H1384Q;ENSP00000363267:H1001Q|.	ENSP00000320485:H1384Q|.	H|R	+|+	3|1	2|2	ARID1A|ARID1A	26973457|26973457	0.035000|0.035000	0.19736|0.19736	0.893000|0.893000	0.35052|0.35052	0.964000|0.964000	0.63967|0.63967	-0.904000|-0.904000	0.04080|0.04080	-0.952000|-0.952000	0.03649|0.03649	-1.066000|-1.066000	0.02275|0.02275	CAC|CGA		0.597	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		3	37	0	0	0	1	0	3	37					G	27100870	C	G	27100870	3	3	45	1	0	0	0	0	1	0	0	0	913	535	19	5	4222	5	ARID1A	1	27100870	Missense_Mutation	SNP	C	TCGA-NA-A5I1-01A-21D-A28R-08		27100870	222149751	1	4244										
ZMYM1	79830	broad.mit.edu	37	chr1	35580612	35580612	+	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	ttattcagcatggtcttcacAgtaatattccttgtctctca	5	10	5	0			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:35580612A>G	ENST00000373330.1	+	11	3355	c.3181A>G	c.(3181-3183)Agt>Ggt	p.S1061G	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.S1061G			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	1061						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGTCTTCACAGTAATATTCC	0.363																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(3181-3183)Agt>Ggt		zinc finger, MYM-type 1							188	178	181					1																	35580612		1878	4106	5984	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35580612A>G	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.3181A>G	1.37:g.35580612A>G	ENSP00000362427:p.Ser1061Gly		Somatic				ZMYM1_ENST00000359858.4_Missense_Mutation_p.S1061G|ZMYM1_ENST00000373329.1_3'UTR	p.S1061G			WXS	Illumina GAIIx	Phase_I	Q5SVZ6	ZMYM1_HUMAN			11	3355	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1061					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.3181A>G	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	A	0.572	-0.840657	0.02692	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.22743	1.94;1.94;1.94	4.69	2.39	0.29439	HAT dimerisation (1);Ribonuclease H-like (1);	0.379783	0.22881	N	0.054507	T	0.10551	0.0258	N	0.20986	0.625	0.20196	N	0.99992	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25779	-1.0122	9	.	.	.	-7.1713	3.3288	0.07076	0.6493:0.0:0.182:0.1687	.	1042;1061	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	G	1061;986;1061	ENSP00000352920:S1061G;ENSP00000362426:S986G;ENSP00000362427:S1061G	.	S	+	1	0	ZMYM1	35353199	0.998000	0.40836	0.922000	0.36590	0.013000	0.08279	2.561000	0.45905	0.539000	0.28788	0.533000	0.62120	AGT		0.363	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		39	51	0	0	0	1	0	39	51					G	35580612	A	G	35580612	3	3	45	1	0	0	0	0	1	0	0	0	17714	188	7	4	3215	4	ZMYM1	1	35580612	Missense_Mutation	SNP	A	TCGA-NA-A5I1-01A-21D-A28R-08	8479742	35580612	213670009	2	4245										
COL24A1	255631	broad.mit.edu	37	chr1	86210421	86210421	+	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	gttatctcgtgtgccaagagGattcttgatgctgtgcaata	11	7	2	2			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:86210421G>A	ENST00000370571.2	-	57	4966	c.4600C>T	c.(4600-4602)Cct>Tct	p.P1534S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1513S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1534	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTGCCAAGAGGATTCTTGATG	0.393																																						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.(4600-4602)Cct>Tct		collagen, type XXIV, alpha 1							197	182	187					1																	86210421		1875	4106	5981	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86210421G>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.4600C>T	1.37:g.86210421G>A	ENSP00000359603:p.Pro1534Ser		Somatic				COL24A1_ENST00000436319.1_Missense_Mutation_p.P1513S	p.P1534S	NM_152890.5	NP_690850.2	WXS	Illumina GAIIx	Phase_I	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	57	4966	-			1534			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.4600C>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867325	0.72065	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.89415	-2.51;-2.51	5.49	5.49	0.81192	Fibrillar collagen, C-terminal (3);	0.000000	0.35838	N	0.002947	D	0.96040	0.8710	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96336	0.9247	10	0.72032	D	0.01	.	19.7394	0.96219	0.0:0.0:1.0:0.0	.	1534;1513	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	S	1534;1513	ENSP00000359603:P1534S;ENSP00000392531:P1513S	ENSP00000359603:P1534S	P	-	1	0	COL24A1	85983009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.740000	0.93945	0.563000	0.77884	CCT		0.393	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		16	37	0	0	0	1	0	16	37					A	86210421	G	A	86210421	3	1	45	1	0	0	0	0	1	0	0	0	3685	1174	41	3	560	3	COL24A1	1	86210421	Missense_Mutation	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08	50629809	86210421	163040200	3	4246										
FLG	2312	broad.mit.edu	37	chr1	152278698	152278698	+	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	ctgtcctggctcacactggaTccctggcgcctgcttctcct	9	17	2	0			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:152278698T>G	ENST00000368799.1	-	3	8699	c.8664A>C	c.(8662-8664)ggA>ggC	p.G2888G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2888	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)			TCACACTGGATCCCTGGCGCC	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.(8662-8664)ggA>ggC		filaggrin							89	144	127					1																	152278698		2045	4278	6323	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.chr1:152278698T>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.8664A>C	1.37:g.152278698T>G			Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G2888G	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8699	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2888			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.8664A>C	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		106	325	0	0	0	1	0	106	325					G	152278698	T	G	152278698	2	3	45	1	0	0	0	0	0	0	0	1	5930	1422	50	4		4	FLG	1	152278698	Silent	SNP	T	TCGA-NA-A5I1-01A-21D-A28R-08	66068277	152278698	96971923	4	4247										
FLG	2312	broad.mit.edu	37	chr1	152284533	152284533	+	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	ctgtcctggctaacactggaTccctggcgcctgcttgtcct	10	15	0	0			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:152284533T>G	ENST00000368799.1	-	3	2864	c.2829A>C	c.(2827-2829)ggA>ggC	p.G943G	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	943	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)			TAACACTGGATCCCTGGCGCC	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.(2827-2829)ggA>ggC		filaggrin							335	303	314					1																	152284533		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.chr1:152284533T>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.2829A>C	1.37:g.152284533T>G			Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G943G	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2864	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		943			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.2829A>C	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		10	454	0	0	0	1	0	10	454					G	152284533	T	G	152284533	2	3	45	1	0	0	0	0	0	0	0	1	5930	1422	50	4		4	FLG	1	152284533	Silent	SNP	T	TCGA-NA-A5I1-01A-21D-A28R-08	5835	152284533	96966088	5	4248										
FLG2	388698	broad.mit.edu	37	chr1	152325750	152325750	+	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	gagtgcacttcactgtcactGgactcactgtggccagatcc	10	13	3	1			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:152325750G>A	ENST00000388718.5	-	3	4584	c.4512C>T	c.(4510-4512)tcC>tcT	p.S1504S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1504					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)			CACTGTCACTGGACTCACTGT	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.(4510-4512)tcC>tcT		filaggrin family member 2							340	328	332					1																	152325750		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152325750G>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.4512C>T	1.37:g.152325750G>A			Somatic				FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S1504S	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4584	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1504					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.4512C>T	CCDS30861.1																																																																																				0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		95	212	0	0	0	1	0	95	212					A	152325750	G	A	152325750	2	1	45	1	0	0	0	0	0	0	0	1	5931	1335	47	3		3	FLG2	1	152325750	Silent	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08	41217	152325750	96924871	6	4249										
GPATCH2	55105	broad.mit.edu	37	chr1	217793423	217793423	+	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	ttttacctttctcctcctgcGcagagttctattcccaacat	4	14	2	1			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:217793423G>A	ENST00000366935.3	-	2	585	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	GPATCH2_ENST00000366934.3_Missense_Mutation_p.R159C	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	159					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)		CTCCTCCTGCGCAGAGTTCTA	0.473																																						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.(475-477)Cgc>Tgc		G patch domain containing 2							173	157	163					1																	217793423		2203	4300	6503	SO:0001583	missense	55105					intracellular	nucleic acid binding	g.chr1:217793423G>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.475C>T	1.37:g.217793423G>A	ENSP00000355902:p.Arg159Cys		Somatic				GPATCH2_ENST00000366934.3_Missense_Mutation_p.R159C	p.R159C	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)	2	585	-			159					Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	c.475C>T	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690333	0.68271	.	.	ENSG00000092978	ENST00000366935;ENST00000366934	T;T	0.63744	0.49;-0.06	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.77928	0.4204	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.79752	-0.1671	10	0.87932	D	0	.	14.5683	0.68194	0.0:0.0:0.8538:0.1462	.	159;159	Q9NW75-2;Q9NW75	.;GPTC2_HUMAN	C	159	ENSP00000355902:R159C;ENSP00000355901:R159C	ENSP00000355901:R159C	R	-	1	0	GPATCH2	215860046	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	3.885000	0.56182	2.658000	0.90341	0.591000	0.81541	CGC		0.473	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		37	32	0	0	0	1	0	37	32					A	217793423	G	A	217793423	3	1	45	1	0	0	0	0	1	0	0	0	6599	1087	38	1	1147	1	GPATCH2	1	217793423	Missense_Mutation	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08	65467673	217793423	31457198	7	4250										
NCKAP5	344148	broad.mit.edu	37	chr2	133541232	133541232	+	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	gtggggtcccaagtgtttggCgaggagaggttttggggaca	19	5	0	1	rs199817836	byFrequency	TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:133541232C>G	ENST00000409261.1	-	14	3525	c.3152G>C	c.(3151-3153)cGc>cCc	p.R1051P	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R1051P|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1051										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						AAGTGTTTGGCGAGGAGAGGT	0.557																																						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.(3151-3153)cGc>cCc		NCK-associated protein 5							90	92	91					2																	133541232		1892	4129	6021	SO:0001583	missense	344148						protein binding	g.chr2:133541232C>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.3152G>C	2.37:g.133541232C>G	ENSP00000387128:p.Arg1051Pro		Somatic				NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R1051P|NCKAP5_ENST00000405974.3_Intron	p.R1051P	NM_207363.2	NP_997246.2	WXS	Illumina GAIIx	Phase_I	O14513	NCKP5_HUMAN			14	3525	-			1051					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.3152G>C	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385591	0.25031	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10005	2.92;2.92	5.41	0.218	0.15270	.	0.602490	0.13525	N	0.381410	T	0.03434	0.0099	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43972	-0.9358	10	0.17369	T	0.5	.	3.1231	0.06398	0.1587:0.0732:0.1898:0.5783	.	1051	O14513	NCKP5_HUMAN	P	1051	ENSP00000387128:R1051P;ENSP00000380603:R1051P	ENSP00000380603:R1051P	R	-	2	0	NCKAP5	133257702	1.000000	0.71417	0.749000	0.31150	0.747000	0.42532	1.150000	0.31639	-0.091000	0.12440	-1.084000	0.02203	CGC		0.557	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		33	47	0	0	0	1	0	33	47					G	133541232	C	G	133541232	3	3	45	1	0	0	0	0	1	0	0	0	10232	768	27	5	2605	5	NCKAP5	2	133541232	Missense_Mutation	SNP	C	TCGA-NA-A5I1-01A-21D-A28R-08		133541232	109658141	8	4251										
LCT	3938	broad.mit.edu	37	chr2	136567176	136567176	+	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	cgccttcaatctgataagcgGaagaggacacgccccacaga	10	13	2	3			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:136567176G>T	ENST00000264162.2	-	8	2751	c.2741C>A	c.(2740-2742)tCc>tAc	p.S914Y	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	914	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)	CTGATAAGCGGAAGAGGACAC	0.517																																						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.(2740-2742)tCc>tAc		lactase							76	81	79					2																	136567176		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.chr2:136567176G>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2741C>A	2.37:g.136567176G>T	ENSP00000264162:p.Ser914Tyr		Somatic					p.S914Y	NM_002299.2	NP_002290.2	WXS	Illumina GAIIx	Phase_I	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	2751	-			914			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2741C>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.535912	0.64972	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.38077	1.16	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.358016	0.33515	N	0.004824	T	0.71358	0.3330	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77998	-0.2376	10	0.87932	D	0	-13.5412	20.0139	0.97470	0.0:0.0:1.0:0.0	.	914	P09848	LPH_HUMAN	Y	914;346	ENSP00000264162:S914Y	ENSP00000264162:S914Y	S	-	2	0	LCT	136283646	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	7.972000	0.88022	2.724000	0.93272	0.563000	0.77884	TCC		0.517	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		4	117	1	0	0.00909568	1	0.00909568	4	117					T	136567176	G	T	136567176	3	4	45	1	0	0	0	0	1	0	0	0	8702	1174	41	2	3082	2	LCT	2	136567176	Missense_Mutation	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08	3025944	136567176	106632197	9	4252										
LRP1B	53353	broad.mit.edu	37	chr2	142237984	142237984	+	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	ccctgacaatgtactccttcGtcatacccatctgggcagtc	7	15	2	1			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:142237984G>C	ENST00000389484.3	-	3	1295	c.324C>G	c.(322-324)gaC>gaG	p.D108E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	108	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTACTCCTTCGTCATACCCAT	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.(322-324)gaC>gaG		low density lipoprotein receptor-related protein 1B							101	86	91					2																	142237984		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:142237984G>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.324C>G	2.37:g.142237984G>C	ENSP00000374135:p.Asp108Glu	TSP Lung(27;0.18)	Somatic					p.D108E	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)	3	1295	-		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)	108			LDL-receptor class A 2.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.324C>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669488	0.67814	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99194	-5.54	5.51	-1.15	0.09709	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99420	0.9795	H	0.97587	4.035	0.33825	D	0.629562	D	0.89917	1.0	D	0.91635	0.999	D	0.99853	1.1074	10	0.87932	D	0	.	11.9053	0.52708	0.5424:0.0:0.4576:0.0	.	108	Q9NZR2	LRP1B_HUMAN	E	108;44	ENSP00000374135:D108E	ENSP00000374135:D108E	D	-	3	2	LRP1B	141954454	0.789000	0.28775	0.993000	0.49108	0.968000	0.65278	0.025000	0.13577	-0.076000	0.12775	-0.300000	0.09419	GAC		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		11	16	0	0	0	1	0	11	16					C	142237984	G	C	142237984	3	2	45	1	0	0	0	0	1	0	0	0	8964	1136	40	5	13831	5	LRP1B	2	142237984	Missense_Mutation	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08	5670808	142237984	100961389	10	4253										
ACVR1	90	broad.mit.edu	37	chr2	158594952	158594952	+	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	tgagaaactggcattcttacCgggtctgagaaccatctgtt	10	9	3	2	rs373855918		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:158594952C>T	ENST00000263640.3	-	10	1824	c.1395G>A	c.(1393-1395)ccG>ccA	p.P465P	ACVR1_ENST00000434821.1_Splice_Site_p.P465P|ACVR1_ENST00000410057.2_Splice_Site_p.P465P|AC019186.1_ENST00000447019.1_lincRNA|ACVR1_ENST00000409283.2_Splice_Site_p.P465P	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	465	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|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 phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|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)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	GCATTCTTACCGGGTCTGAGA	0.433																																						ENST00000263640.3																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19						c.e10+1		activin A receptor, type I	Adenosine triphosphate(DB00171)	C	,	0,4406		0,0,2203	232	209	217		1395,1395	2.7	1	2		217	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice	ACVR1	NM_001105.4,NM_001111067.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	465/510,465/510	158594952	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	90				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding	g.chr2:158594952C>T		CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.1395+1G>A	2.37:g.158594952C>T			Somatic				ACVR1_ENST00000410057.2_Splice_Site_p.P465_splice|ACVR1_ENST00000409283.2_Splice_Site_p.P465_splice|ACVR1_ENST00000434821.1_Splice_Site_p.P465_splice	p.P465_splice	NM_001105.4	NP_001096.1	WXS	Illumina GAIIx	Phase_I	Q04771	ACVR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.104)	10	1824	-			465			Protein kinase.			Splice_Site	SNP	ENST00000263640.3	37	c.1395_splice	CCDS2206.1																																																																																				0.433	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105	Silent	21	80	0	0	0	1	0	21	80					T	158594952	C	T	158594952	5	4	45	1	0	0	0	0	0	0	1	0	220	666	23	1	142	1	ACVR1	2	158594952	Splice_Site	SNP	C	TCGA-NA-A5I1-01A-21D-A28R-08	16356968	158594952	84604421	11	4254										
LASS6	253782	broad.mit.edu	37	chr2	169404167	169404167	+	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	ccaatggaccacaaattgctCcgcccaatgccattctggaa	7	14	1	0			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:169404167C>T	ENST00000305747.6	+	2	819	c.232C>T	c.(232-234)Ccg>Tcg	p.P78S	CERS6_ENST00000392687.4_Missense_Mutation_p.P78S	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	78					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)										ACAAATTGCTCCGCCCAATGC	0.443																																						ENST00000305747.6																			0											c.(232-234)Ccg>Tcg		ceramide synthase 6							102	85	91					2																	169404167		2203	4300	6503	SO:0001583	missense	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.chr2:169404167C>T	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.232C>T	2.37:g.169404167C>T	ENSP00000306579:p.Pro78Ser		Somatic				CERS6_ENST00000392687.4_Missense_Mutation_p.P78S	p.P78S	NM_203463.2	NP_982288.1	WXS	Illumina GAIIx	Phase_I	Q6ZMG9	CERS6_HUMAN			2	819	+			78					Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	c.232C>T	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621600	0.28889	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	T;T	0.20598	2.06;2.06	5.59	4.7	0.59300	Homeobox (1);Homeodomain-like (1);	0.207174	0.52532	D	0.000079	T	0.12305	0.0299	N	0.13168	0.305	0.35035	D	0.759159	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.13045	-1.0524	10	0.10111	T	0.7	-31.5338	14.5995	0.68429	0.1473:0.8527:0.0:0.0	.	78;78	Q32M63;Q6ZMG9	.;CERS6_HUMAN	S	78	ENSP00000306579:P78S;ENSP00000376453:P78S	ENSP00000306579:P78S	P	+	1	0	CERS6	169112413	1.000000	0.71417	0.975000	0.42487	0.880000	0.50808	3.981000	0.56902	1.306000	0.44926	0.585000	0.79938	CCG		0.443	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		14	21	0	0	0	1	0	14	21					T	169404167	C	T	169404167	3	4	45	1	0	0	0	0	1	0	0	0	8652	855	30	3	238	3	LASS6	2	169404167	Missense_Mutation	SNP	C	TCGA-NA-A5I1-01A-21D-A28R-08	10809215	169404167	73795206	12	4255										
LRP2	4036	broad.mit.edu	37	chr2	170025162	170025162	+	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	cgaacatagtagcctggcagTatgcaccatcaggaaagcgt	11	10	1	0			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:170025162T>C	ENST00000263816.3	-	61	11807	c.11522A>G	c.(11521-11523)tAc>tGc	p.Y3841C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3841	LDL-receptor class A 34. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AGCCTGGCAGTATGCACCATC	0.428																																						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.(11521-11523)tAc>tGc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						85	78	81					2																	170025162		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.chr2:170025162T>C		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.11522A>G	2.37:g.170025162T>C	ENSP00000263816:p.Tyr3841Cys		Somatic					p.Y3841C	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)	61	11807	-			3841			LDL-receptor class A 34.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.11522A>G	CCDS2232.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.60|19.60	3.857437|3.857437	0.71834|0.71834	.|.	.|.	ENSG00000081479|ENSG00000081479	ENST00000536293|ENST00000263816	.|D	.|0.91295	.|-2.82	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.057065	.|0.64402	.|D	.|0.000001	D|D	0.93641|0.93641	0.7969|0.7969	L|L	0.52759|0.52759	1.655|1.655	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.93166|0.93166	0.6562|0.6562	6|10	0.13470|0.41790	T|T	0.59|0.15	.|.	16.1818|16.1818	0.81909|0.81909	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3841	.|P98164	.|LRP2_HUMAN	A|C	506|3841	.|ENSP00000263816:Y3841C	ENSP00000438157:T506A|ENSP00000263816:Y3841C	T|Y	-|-	1|2	0|0	LRP2|LRP2	169733408|169733408	1.000000|1.000000	0.71417|0.71417	0.929000|0.929000	0.37066|0.37066	0.784000|0.784000	0.44337|0.44337	6.266000|6.266000	0.72540|0.72540	2.225000|2.225000	0.72522|0.72522	0.459000|0.459000	0.35465|0.35465	ACT|TAC		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		3	30	0	0	0	1	0	3	30					C	170025162	T	C	170025162	3	2	45	1	0	0	0	0	1	0	0	0	8965	1638	57	4	2521	4	LRP2	2	170025162	Missense_Mutation	SNP	T	TCGA-NA-A5I1-01A-21D-A28R-08	620995	170025162	73174211	13	4256										
DOCK10	55619	broad.mit.edu	37	chr2	225639777	225639777	+	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	ccttttcctcaaagaacggcGtcacataggtcacctggatg	9	12	3	1			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:225639777G>A	ENST00000258390.7	-	52	5925	c.5858C>T	c.(5857-5859)aCg>aTg	p.T1953M	DOCK10_ENST00000409592.3_Missense_Mutation_p.T1947M	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1953	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)		AAAGAACGGCGTCACATAGGT	0.493																																						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.(5839-5841)aCg>aTg		dedicator of cytokinesis 10							85	86	86					2																	225639777		1979	4186	6165	SO:0001583	missense	55619						GTP binding	g.chr2:225639777G>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.5858C>T	2.37:g.225639777G>A	ENSP00000258390:p.Thr1953Met		Somatic				DOCK10_ENST00000258390.7_Missense_Mutation_p.T1953M	p.T1947M			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)	52	5953	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1953			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5840C>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776817	0.49786	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.20332	2.08;2.08	5.48	5.48	0.80851	.	0.104285	0.64402	D	0.000003	T	0.36936	0.0985	M	0.65975	2.015	0.43896	D	0.996527	D;D;P	0.54397	0.966;0.966;0.773	P;P;B	0.50049	0.512;0.629;0.154	T	0.09357	-1.0678	10	0.54805	T	0.06	.	19.7173	0.96127	0.0:0.0:1.0:0.0	.	1953;1947;615	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	M	1947;1953;460	ENSP00000386694:T1947M;ENSP00000258390:T1953M	ENSP00000258390:T1953M	T	-	2	0	DOCK10	225348021	1.000000	0.71417	0.960000	0.40013	0.939000	0.58152	5.258000	0.65479	2.724000	0.93272	0.563000	0.77884	ACG		0.493	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			15	23	0	0	0	1	0	15	23					A	225639777	G	A	225639777	3	1	45	1	0	0	0	0	1	0	0	0	4687	1145	40	1	722	1	DOCK10	2	225639777	Missense_Mutation	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08	55614615	225639777	17559596	14	4257										
LZTFL1	54585	broad.mit.edu	37	chr3	45877083	45877083	+	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	caagttcaaattttattaccGgttttcaagttcagagatgt	7	6	3	1			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr3:45877083G>A	ENST00000296135.6	-	3	496	c.322C>T	c.(322-324)Cga>Tga	p.R108*	LZTFL1_ENST00000539217.1_Splice_Site_p.R104*|LZTFL1_ENST00000536047.1_Splice_Site_p.R91*|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	108				R -> Q (in Ref. 6; AAH25988). {ECO:0000305}.	establishment of protein localization to organelle (GO:0072594)	BBSome (GO:0034464)|cytoplasm (GO:0005737)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TTTTATTACCGGTTTTCAAGT	0.398																																						ENST00000296135.6																			0				endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.e3+1		leucine zipper transcription factor-like 1							93	91	92					3																	45877083		2203	4300	6503	SO:0001630	splice_region_variant	54585							g.chr3:45877083G>A	AJ297351	CCDS2731.1, CCDS63608.1, CCDS63609.1	3p21.3	2014-01-28			ENSG00000163818	ENSG00000163818			6741	protein-coding gene	gene with protein product		606568				11352561, 22510444	Standard	NM_020347		Approved	BBS17	uc003cox.2	Q9NQ48	OTTHUMG00000133452	ENST00000296135.6:c.323+1C>T	3.37:g.45877083G>A			Somatic				LZTFL1_ENST00000539217.1_Splice_Site_p.R104_splice|LZTFL1_ENST00000536047.1_Splice_Site_p.R91_splice|LZTFL1_ENST00000490463.1_5'UTR	p.R108_splice	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	WXS	Illumina GAIIx	Phase_I	Q9NQ48	LZTL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)	3	496	-			108	R -> Q (in Ref. 4; AAH25988).				B3KSI9|B4E0K7|Q8TC61|Q9NQ56	Splice_Site	SNP	ENST00000296135.6	37	c.323_splice	CCDS2731.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.949836|8.949836	0.99014|0.99014	.|.	.|.	ENSG00000163818|ENSG00000163818	ENST00000440576|ENST00000296135;ENST00000536047;ENST00000539217	.|.	.|.	.|.	5.74|5.74	3.47|3.47	0.39725|0.39725	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.33265|.	0.0857|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34625|.	-0.9821|.	3|.	.|0.02654	.|T	.|1	-14.9754|-14.9754	13.674|13.674	0.62443|0.62443	0.0:0.0:0.3321:0.6679|0.0:0.0:0.3321:0.6679	.|.	.|.	.|.	.|.	L|X	65|108;91;104	.|.	.|ENSP00000296135:R108X	P|R	-|-	2|1	0|2	LZTFL1|LZTFL1	45852087|45852087	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.822000|0.822000	0.46500|0.46500	2.350000|2.350000	0.44063|0.44063	1.013000|1.013000	0.39391|0.39391	-0.397000|-0.397000	0.06425|0.06425	CCG|CGA		0.398	LZTFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257326.3	NM_020347	Nonsense_Mutation	24	36	0	0	0	1	0	24	36					A	45877083	G	A	45877083	5	1	45	1	0	0	0	0	0	0	1	0	9145	1130	39	1	609	1	LZTFL1	3	45877083	Splice_Site	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08		45877083	152145347	15	4258										
LEPREL1	55214	broad.mit.edu	37	chr3	189681862	189681862	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cagatgagaagctgatcatgCgcccacattttggttttata	9	8	1	3			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr3:189681862C>A	ENST00000319332.5	-	14	2116	c.1919G>T	c.(1918-1920)cGc>cTc	p.R640L	LEPREL1_ENST00000427335.2_Missense_Mutation_p.R459L	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	640	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				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)	GCTGATCATGCGCCCACATTT	0.463																																						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.(1918-1920)cGc>cTc		leprecan-like 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						83	81	82					3																	189681862		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.chr3:189681862C>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.1919G>T	3.37:g.189681862C>A	ENSP00000316881:p.Arg640Leu		Somatic				LEPREL1_ENST00000427335.2_Missense_Mutation_p.R459L	p.R640L	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)	14	2116	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		640			Fe2OG dioxygenase.		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	c.1919G>T	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	C	35	5.422604	0.96111	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.63096	-0.02;-0.02	5.91	5.91	0.95273	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.83317	0.5228	M	0.88105	2.93	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.84722	0.0740	9	.	.	.	-14.1731	19.2867	0.94077	0.0:1.0:0.0:0.0	.	640	Q8IVL5	P3H2_HUMAN	L	640;459	ENSP00000316881:R640L;ENSP00000408947:R459L	.	R	-	2	0	LEPREL1	191164556	1.000000	0.71417	0.975000	0.42487	0.996000	0.88848	7.487000	0.81328	2.793000	0.96121	0.655000	0.94253	CGC		0.463	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		32	46	1	0	1.74807e-11	1	1.8413e-11	32	46					A	189681862	C	A	189681862	3	1	45	1	0	0	0	0	1	0	0	0	8739	768	27	5	215	5	LEPREL1	3	189681862	Missense_Mutation	SNP	C	TCGA-NA-A5I1-01A-21D-A28R-08	143804779	189681862	8340568	16	4259										
SEC24B	10427	broad.mit.edu	37	chr4	110384637	110384637	+	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	acagctatcagccatccatcGccacttccacctctaccatc	3	19	2	0			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr4:110384637G>A	ENST00000265175.5	+	2	769	c.714G>A	c.(712-714)tcG>tcA	p.S238S	SEC24B_ENST00000504968.2_Silent_p.S269S|SEC24B_ENST00000399100.2_Silent_p.S238S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	238					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GCCATCCATCGCCACTTCCAC	0.458																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(712-714)tcG>tcA		SEC24 family member B							133	140	138					4																	110384637		2189	4289	6478	SO:0001819	synonymous_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110384637G>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.714G>A	4.37:g.110384637G>A			Somatic				SEC24B_ENST00000399100.2_Silent_p.S238S|SEC24B_ENST00000504968.2_Silent_p.S269S	p.S238S	NM_006323.2	NP_006314.2	WXS	Illumina GAIIx	Phase_I	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	2	769	+		Hepatocellular(203;0.217)	238					B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	c.714G>A	CCDS47124.1																																																																																				0.458	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			4	123	0	0	0	1	0	4	123					A	110384637	G	A	110384637	2	1	45	1	0	0	0	0	0	0	0	1	14010	1074	38	1		1	SEC24B	4	110384637	Silent	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08		110384637	80769639	17	4260										
EGF	1950	broad.mit.edu	37	chr4	110866382	110866382	+	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	ccacttggtgaactgaaagtAgtgcatccacttgcacaacc	8	12	0	2	rs146585233		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr4:110866382A>C	ENST00000265171.5	+	5	1336	c.891A>C	c.(889-891)gtA>gtC	p.V297V	EGF_ENST00000509793.1_Silent_p.V297V|EGF_ENST00000503392.1_Silent_p.V297V	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	297					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)	AACTGAAAGTAGTGCATCCAC	0.463													A|||	1	0.000199681	8e-04	0	5008	,	,		17161	0		0	False		,,,				2504	0					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.(889-891)gtA>gtC		epidermal growth factor	Sulindac(DB00605)	A	,,	11,4395	17.9+/-39.9	0,11,2192	118	96	103		891,891,891	-10.8	0	4	dbSNP_134	103	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	EGF	NM_001178130.1,NM_001178131.1,NM_001963.4	,,	0,11,6492	CC,CA,AA		0.0,0.2497,0.0846	,,	297/1167,297/1166,297/1208	110866382	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110866382A>C	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.891A>C	4.37:g.110866382A>C			Somatic				EGF_ENST00000503392.1_Silent_p.V297V|EGF_ENST00000509793.1_Silent_p.V297V	p.V297V	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)	5	1336	+		Hepatocellular(203;0.0893)	297					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.891A>C	CCDS3689.1																																																																																				0.463	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			15	15	0	0	0	1	0	15	15					C	110866382	A	C	110866382	2	2	45	1	0	0	0	0	0	0	0	1	4964	407	15	4		4	EGF	4	110866382	Silent	SNP	A	TCGA-NA-A5I1-01A-21D-A28R-08	481745	110866382	80287894	18	4261										
PDGFRB	5159	broad.mit.edu	37	chr5	149498363	149498363	+	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	aagcagcaccagctgggagaAggggggccgaatctcaaact	14	10	1	1			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr5:149498363A>T	ENST00000261799.4	-	21	3320	c.2851T>A	c.(2851-2853)Ttc>Atc	p.F951I		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	951	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTGGGAGAAGGGGGGCCGA	0.577			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"platelet-derived growth factor receptor, beta polypeptide"			L	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"		"MPD, AML, CMML, CML"		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(2851-2853)Ttc>Atc		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						96	99	98					5																	149498363		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149498363A>T	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2851T>A	5.37:g.149498363A>T	ENSP00000261799:p.Phe951Ile		Somatic					p.F951I	NM_002609.3	NP_002600.1	WXS	Illumina GAIIx	Phase_I	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		21	3320	-		all_hematologic(541;0.224)	951			Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.2851T>A	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	A	34	5.382645	0.95967	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.88046	-2.33	5.29	5.29	0.74685	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000047	D	0.92724	0.7687	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93589	0.6919	10	0.87932	D	0	.	15.2522	0.73556	1.0:0.0:0.0:0.0	.	951;951	A8KAM8;P09619	.;PGFRB_HUMAN	I	951;621	ENSP00000261799:F951I	ENSP00000261799:F951I	F	-	1	0	PDGFRB	149478556	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.079000	0.94032	2.007000	0.58848	0.459000	0.35465	TTC		0.577	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		26	96	0	0	0	1	0	26	96					T	149498363	A	T	149498363	3	4	45	1	0	0	0	0	1	0	0	0	11671	72	3	4	481	4	PDGFRB	5	149498363	Missense_Mutation	SNP	A	TCGA-NA-A5I1-01A-21D-A28R-08		149498363	31416897	19	4262										
IER3	8870	broad.mit.edu	37	chr6	30711931	30711931	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	gagcagcagaaagagaagccTtttggctgggttcggttcct							TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr6:30711931delT	ENST00000259874.5	-	2	288	c.253delA	c.(253-255)aggfs	p.R85fs	FLOT1_ENST00000376389.3_5'Flank|XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000470643.1_5'Flank|FLOT1_ENST00000456573.2_5'Flank|IER3_ENST00000376377.2_Frame_Shift_Del_p.K122fs	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3	85					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						AAGAGAAGCCTTTTGGCTGGG	0.627																																						ENST00000376377.2																			0				NS(1)	1						c.(364-366)agfs		immediate early response 3							63	68	66					6																	30711931		2203	4299	6502	SO:0001589	frameshift_variant	8870				anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding	g.chr6:30711931delT	AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265	ENST00000259874.5:c.253delA	6.37:g.30711931delT	ENSP00000259874:p.Arg85fs		Somatic				IER3_ENST00000259874.5_Frame_Shift_Del_p.R85fs	p.K122fs			WXS	Illumina GAIIx	Phase_I	P46695	IEX1_HUMAN			1	394	-			0					Q5SU30|Q92691|Q93044	Frame_Shift_Del	DEL	ENST00000259874.5	37	c.365delA	CCDS4689.1																																																																																				0.627	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076578.2			95	113						95	113	---	---	---	---	-	30711931	T	-	30711931	7	5	45	1	0	1	0	1	0	0	0	0	7515	1608	56	0	221	0	IER3	6	30711931	Frame_Shift_Del	DEL	T	TCGA-NA-A5I1-01A-21D-A28R-08		30711931	140403136	20	4263										
DNAH8	1769	broad.mit.edu	37	chr6	38942307	38942307	+	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	tttacactccactgtgcaggTaactgcagaaagcagttttc	8	10	0	1			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr6:38942307T>C	ENST00000359357.3	+	83	12437		c.e83+2		DNAH8_ENST00000441566.1_Splice_Site			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						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						ACTGTGCAGGTAACTGCAGAA	0.483																																						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.e83+2		dynein, axonemal, heavy chain 8							75	70	72					6																	38942307		2203	4300	6503	SO:0001630	splice_region_variant	1769							g.chr6:38942307T>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.12183+2T>C	6.37:g.38942307T>C			Somatic				DNAH8_ENST00000441566.1_Splice_Site				WXS	Illumina GAIIx	Phase_I					83	12437	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	37			.	.	.	.	.	.	.	.	.	.	T	18.27	3.587102	0.66105	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2167	0.82231	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH8	39050285	1.000000	0.71417	0.999000	0.59377	0.612000	0.37316	4.639000	0.61361	2.231000	0.72958	0.533000	0.62120	.		0.483	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Intron	4	58	0	0	0	1	0	4	58					C	38942307	T	C	38942307	5	2	45	1	0	0	0	0	0	0	1	0	4609	1652	57	4	12507	4	DNAH8	6	38942307	Splice_Site	SNP	T	TCGA-NA-A5I1-01A-21D-A28R-08	8230376	38942307	132172760	21	4264										
GOPC	57120	broad.mit.edu	37	chr6	117890850	117890850	+	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	cgcatctatcagcaggttgcCccggatggatctcagagatg	12	11	3	1			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr6:117890850C>T	ENST00000368498.2	-	7	1037	c.962G>A	c.(961-963)gGg>gAg	p.G321E	DCBLD1_ENST00000296955.8_3'UTR|GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000052569.6_Missense_Mutation_p.G313E|GOPC_ENST00000535237.1_Missense_Mutation_p.G321E	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	321	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		AGCAGGTTGCCCCGGATGGAT	0.458			O	ROS1	glioblastoma																																	ENST00000535237.1				Dom	yes		6	6q21	57120	O	golgi associated PDZ and coiled-coil motif containing			O	ROS1		glioblastoma	GOPC/ROS1(14)	0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(961-963)gGg>gAg		golgi-associated PDZ and coiled-coil motif containing							171	168	169					6																	117890850		2203	4300	6503	SO:0001583	missense	57120							g.chr6:117890850C>T	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.962G>A	6.37:g.117890850C>T	ENSP00000357484:p.Gly321Glu		Somatic				GOPC_ENST00000467125.1_5'UTR|DCBLD1_ENST00000296955.8_3'UTR|GOPC_ENST00000368498.2_Missense_Mutation_p.G321E|GOPC_ENST00000052569.6_Missense_Mutation_p.G313E	p.G321E			WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)	7	1191	-		all_cancers(87;0.00844)|all_epithelial(87;0.0242)						A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	ENST00000368498.2	37	c.962G>A	CCDS5117.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520780	0.85495	.	.	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	T;T;T	0.40476	1.03;1.03;1.03	5.44	5.44	0.79542	PDZ/DHR/GLGF (4);	0.162346	0.56097	D	0.000036	T	0.50017	0.1591	M	0.74389	2.26	0.80722	D	1	D;D;P	0.56968	0.973;0.978;0.953	P;P;P	0.54856	0.65;0.762;0.65	T	0.54964	-0.8214	10	0.72032	D	0.01	-20.3884	15.1425	0.72620	0.0:0.8591:0.1409:0.0	.	313;321;321	Q9HD26-2;Q9HD26;F5H1Y4	.;GOPC_HUMAN;.	E	313;321;321	ENSP00000052569:G313E;ENSP00000357484:G321E;ENSP00000445690:G321E	ENSP00000052569:G313E	G	-	2	0	GOPC	117997543	0.862000	0.29867	0.994000	0.49952	0.956000	0.61745	3.007000	0.49536	2.707000	0.92482	0.557000	0.71058	GGG		0.458	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		4	180	0	0	0	1	0	4	180					T	117890850	C	T	117890850	3	4	45	1	0	0	0	0	1	0	0	0	6581	623	22	3	438	3	GOPC	6	117890850	Missense_Mutation	SNP	C	TCGA-NA-A5I1-01A-21D-A28R-08	78948543	117890850	53224217	22	4265										
CARD11	84433	broad.mit.edu	37	chr7	2987238	2987238	+	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	tgatcttggatggcagcataGgggcattaagcacttcatct	11	8	3	1			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr7:2987238G>A	ENST00000396946.4	-	3	594	c.191C>T	c.(190-192)cCt>cTt	p.P64L	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	64	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)		TGGCAGCATAGGGGCATTAAG	0.537			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.(190-192)cCt>cTt		caspase recruitment domain family, member 11							254	188	210					7																	2987238		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.chr7:2987238G>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.191C>T	7.37:g.2987238G>A	ENSP00000380150:p.Pro64Leu		Somatic					p.P64L	NM_032415.4	NP_115791.3	WXS	Illumina GAIIx	Phase_I	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	3	594	-		Ovarian(82;0.0115)	64			CARD.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.191C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	4.044	0.005881	0.07866	.	.	ENSG00000198286	ENST00000396946;ENST00000356408	T;T	0.26660	1.72;1.96	5.32	5.32	0.75619	DEATH-like (2);Caspase Recruitment (2);	0.280979	0.37761	N	0.001947	T	0.15435	0.0372	N	0.16233	0.39	0.47123	D	0.99932	B	0.09022	0.002	B	0.12837	0.008	T	0.09930	-1.0652	10	0.12430	T	0.62	-40.8466	13.206	0.59795	0.0833:0.0:0.9167:0.0	.	64	Q9BXL7	CAR11_HUMAN	L	64	ENSP00000380150:P64L;ENSP00000348779:P64L	ENSP00000348779:P64L	P	-	2	0	CARD11	2953764	0.959000	0.32827	0.998000	0.56505	0.886000	0.51366	1.439000	0.35013	2.668000	0.90789	0.650000	0.86243	CCT		0.537	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		36	58	0	0	0	1	0	36	58					A	2987238	G	A	2987238	3	1	45	1	0	0	0	0	1	0	0	0	2647	1000	35	3	3365	3	CARD11	7	2987238	Missense_Mutation	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08		2987238	156151425	23	4266										
EPDR1	54749	broad.mit.edu	37	chr7	37989841	37989841	+	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	ctatacagtcaaggattgctAtcctgtccaggaaaccttta	7	10	1	0			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr7:37989841A>G	ENST00000199448.4	+	3	897	c.518A>G	c.(517-519)tAt>tGt	p.Y173C	EPDR1_ENST00000476620.1_Missense_Mutation_p.Y71C|EPDR1_ENST00000423717.1_3'UTR|EPDR1_ENST00000559325.1_Missense_Mutation_p.Y293C|EPDR1_ENST00000425345.1_Missense_Mutation_p.Y112C	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	173					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)	p.Y293C(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AAGGATTGCTATCCTGTCCAG	0.383																																						ENST00000199448.4																			1	Substitution - Missense(1)	p.Y293C(1)	endometrium(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(517-519)tAt>tGt		ependymin related 1							63	64	64					7																	37989841		2203	4300	6503	SO:0001583	missense	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37989841A>G	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.518A>G	7.37:g.37989841A>G	ENSP00000199448:p.Tyr173Cys		Somatic				EPDR1_ENST00000425345.1_Missense_Mutation_p.Y112C|EPDR1_ENST00000423717.1_3'UTR|EPDR1_ENST00000476620.1_Missense_Mutation_p.Y71C|EPDR1_ENST00000559325.1_Missense_Mutation_p.Y293C	p.Y173C	NM_017549.4	NP_060019.2	WXS	Illumina GAIIx	Phase_I	Q9UM22	EPDR1_HUMAN			3	897	+			173					A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	c.518A>G	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.167779	0.78339	.	.	ENSG00000086289	ENST00000476620;ENST00000199448;ENST00000425345	.	.	.	4.8	4.8	0.61643	.	0.134522	0.52532	D	0.000079	T	0.76285	0.3966	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.986;0.991	T	0.79075	-0.1952	9	0.72032	D	0.01	-7.1736	13.7572	0.62943	1.0:0.0:0.0:0.0	.	112;293	C9JYS3;A4D1W8	.;.	C	71;293;112	.	ENSP00000199448:Y293C	Y	+	2	0	EPDR1	37956366	1.000000	0.71417	0.991000	0.47740	0.931000	0.56810	9.087000	0.94110	2.157000	0.67596	0.533000	0.62120	TAT		0.383	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		11	13	0	0	0	1	0	11	13					G	37989841	A	G	37989841	3	3	45	1	0	0	0	0	1	0	0	0	5165	449	16	4	888	4	EPDR1	7	37989841	Missense_Mutation	SNP	A	TCGA-NA-A5I1-01A-21D-A28R-08	35002603	37989841	121148822	24	4267										
MEPCE	56257	broad.mit.edu	37	chr7	100028470	100028470	+	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	accagcagcagcaggcagccGgagggagtgagagtcacccc	15	13	1	1			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr7:100028470G>A	ENST00000310512.2	+	1	1217	c.829G>A	c.(829-831)Gga>Aga	p.G277R	ZCWPW1_ENST00000324725.6_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	277					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGCAGCCGGAGGGAGTGA	0.662																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(829-831)Gga>Aga		methylphosphate capping enzyme							84	92	89					7																	100028470		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028470G>A	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.829G>A	7.37:g.100028470G>A	ENSP00000308546:p.Gly277Arg		Somatic				MEPCE_ENST00000414441.1_5'UTR	p.G277R	NM_019606.5	NP_062552.2	WXS	Illumina GAIIx	Phase_I	Q7L2J0	MEPCE_HUMAN			1	1217	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		277					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.829G>A	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802299	0.50315	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.73	4.73	0.59995	.	0.141453	0.45606	D	0.000352	T	0.61211	0.2329	L	0.29908	0.895	0.44085	D	0.996849	D	0.89917	1.0	D	0.74348	0.983	T	0.53878	-0.8376	9	0.17369	T	0.5	-8.0857	13.0657	0.59032	0.0:0.0:1.0:0.0	.	277	Q7L2J0	MEPCE_HUMAN	R	277	.	ENSP00000308546:G277R	G	+	1	0	MEPCE	99866406	0.997000	0.39634	0.990000	0.47175	0.555000	0.35460	2.826000	0.48104	2.461000	0.83175	0.462000	0.41574	GGA		0.662	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			4	154	0	0	0	1	0	4	154					A	100028470	G	A	100028470	3	1	45	1	0	0	0	0	1	0	0	0	9486	1117	39	1	831	1	MEPCE	7	100028470	Missense_Mutation	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08	62038629	100028470	59110193	25	4268										
CLCN1	1180	broad.mit.edu	37	chr7	143049003	143049003	+	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	ggagctggccgacatcttgcAgggccccagcctgcgatcca	13	15	1	0			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr7:143049003A>T	ENST00000343257.2	+	23	2999	c.2912A>T	c.(2911-2913)cAg>cTg	p.Q971L		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	971					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)					GACATCTTGCAGGGCCCCAGC	0.637																																						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.(2911-2913)cAg>cTg		chloride channel, voltage-sensitive 1							73	75	74					7																	143049003		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143049003A>T	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.2912A>T	7.37:g.143049003A>T	ENSP00000339867:p.Gln971Leu		Somatic					p.Q971L	NM_000083.2	NP_000074.2	WXS	Illumina GAIIx	Phase_I	P35523	CLCN1_HUMAN			23	2999	+	Melanoma(164;0.205)		971					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.2912A>T	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.509284	0.44660	.	.	ENSG00000188037	ENST00000343257	D	0.85484	-1.99	4.49	4.49	0.54785	.	0.522077	0.18275	N	0.146181	T	0.81851	0.4910	L	0.56769	1.78	0.26242	N	0.978857	P;B	0.38504	0.634;0.361	B;B	0.39258	0.295;0.034	T	0.76777	-0.2834	10	0.62326	D	0.03	.	8.2587	0.31771	0.9083:0.0:0.0917:0.0	.	170;971	Q75L28;P35523	.;CLCN1_HUMAN	L	971	ENSP00000339867:Q971L	ENSP00000339867:Q971L	Q	+	2	0	CLCN1	142759125	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.323000	0.33701	1.788000	0.52465	0.459000	0.35465	CAG		0.637	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		48	10	0	0	0	1	0	48	10					T	143049003	A	T	143049003	3	4	45	1	0	0	0	0	1	0	0	0	3464	188	7	4	3002	4	CLCN1	7	143049003	Missense_Mutation	SNP	A	TCGA-NA-A5I1-01A-21D-A28R-08	43020533	143049003	16089660	26	4269										
TRPS1	7227	broad.mit.edu	37	chr8	116430678	116430678	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	aaaacaccggagcctctacgCctctgaaacaggggaaaaaa	9	11	2	1			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr8:116430678C>A	ENST00000220888.5	-	5	2823	c.2664G>T	c.(2662-2664)agG>agT	p.R888S	TRPS1_ENST00000395715.3_Missense_Mutation_p.R901S|TRPS1_ENST00000519076.1_Missense_Mutation_p.R642S|TRPS1_ENST00000520276.1_Missense_Mutation_p.R892S			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	888					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.R888R(2)|p.R901R(2)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	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)			AGCCTCTACGCCTCTGAAACA	0.473									Langer-Giedion syndrome																													ENST00000395715.3																			4	Substitution - coding silent(4)	p.R888R(2)|p.R901R(2)	lung(4)	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.(2701-2703)agG>agT		trichorhinophalangeal syndrome I							87	88	88					8																	116430678		1911	4120	6031	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.chr8:116430678C>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.2664G>T	8.37:g.116430678C>A	ENSP00000220888:p.Arg888Ser		Somatic				TRPS1_ENST00000520276.1_Missense_Mutation_p.R892S|TRPS1_ENST00000519076.1_Missense_Mutation_p.R642S|TRPS1_ENST00000220888.5_Missense_Mutation_p.R888S	p.R901S	NM_014112.2	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)		6	3280	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		888		T -> P (in TRPS3; severe).			B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2703G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.28|14.28	2.488786|2.488786	0.44249|0.44249	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000518018|ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	.|D;D;D;D	.|0.99660	.|-6.32;-6.32;-6.32;-6.32	5.81|5.81	3.78|3.78	0.43462|0.43462	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98883|0.98883	0.9622|0.9622	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.83275	.|0.996;0.991;0.996	D|D	0.98168|0.98168	1.0450|1.0450	5|10	.|0.59425	.|D	.|0.04	.|.	6.4745|6.4745	0.22028|0.22028	0.0:0.6816:0.0:0.3184|0.0:0.6816:0.0:0.3184	.|.	.|892;888;901	.|Q9UHF7-3;Q9UHF7;Q9UHF7-2	.|.;TRPS1_HUMAN;.	S|S	13|901;888;642;892	.|ENSP00000379065:R901S;ENSP00000220888:R888S;ENSP00000428910:R642S;ENSP00000428680:R892S	.|ENSP00000220888:R888S	A|R	-|-	1|3	0|2	TRPS1|TRPS1	116499854|116499854	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.797000|0.797000	0.26999|0.26999	1.457000|1.457000	0.47850|0.47850	0.650000|0.650000	0.86243|0.86243	GCG|AGG		0.473	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		6	181	1	0	2.7689e-08	1	2.87819e-08	6	181					A	116430678	C	A	116430678	3	1	45	1	0	0	0	0	1	0	0	0	16608	738	26	5	1189	5	TRPS1	8	116430678	Missense_Mutation	SNP	C	TCGA-NA-A5I1-01A-21D-A28R-08		116430678	29933344	27	4270										
DOCK8	81704	broad.mit.edu	37	chr9	368135	368135	+	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	gatgctagcaatgcgatgccGgtaaggagggaaacgaacat	14	7	0	0			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr9:368135G>A	ENST00000453981.1	+	15	1909	c.1797G>A	c.(1795-1797)ccG>ccA	p.P599P	DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000382329.1_Silent_p.P11P|DOCK8_ENST00000469391.1_Splice_Site_p.P531P|DOCK8_ENST00000432829.2_Splice_Site_p.P531P			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	599	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATGCGATGCCGGTAAGGAGGG	0.478																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.e15+1		dedicator of cytokinesis 8							134	110	118					9																	368135		2203	4300	6503	SO:0001630	splice_region_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:368135G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.1797+1G>A	9.37:g.368135G>A			Somatic				DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000469391.1_Splice_Site_p.P531_splice|DOCK8_ENST00000382329.1_Silent_p.P11P|DOCK8_ENST00000453981.1_Splice_Site_p.P599_splice	p.P531_splice	NM_203447.3	NP_982272.2	WXS	Illumina GAIIx	Phase_I	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	15	1909	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	599			DHR-1.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Splice_Site	SNP	ENST00000453981.1	37	c.1593_splice	CCDS6440.2																																																																																				0.478	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	Silent	5	87	0	0	0	1	0	5	87					A	368135	G	A	368135	5	1	45	1	0	0	0	0	0	0	1	0	4695	1130	39	1	1855	1	DOCK8	9	368135	Splice_Site	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08		368135	140845296	28	4271										
PFKP	5214	broad.mit.edu	37	chr10	3162118	3162118	+	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	cctggagctgtcagccgcccGggagaagcacgaggagttct	15	12	2	1	rs140443512		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr10:3162118G>C	ENST00000381125.4	+	16	1641	c.1565G>C	c.(1564-1566)cGg>cCg	p.R522P	PFKP_ENST00000381075.2_Missense_Mutation_p.R514P	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	522	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)			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)		TCAGCCGCCCGGGAGAAGCAC	0.632											OREG0019976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(1540-1542)cGg>cCg		phosphofructokinase, platelet							98	81	86					10																	3162118		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3162118G>C	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.1565G>C	10.37:g.3162118G>C	ENSP00000370517:p.Arg522Pro		Somatic	OREG0019976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	609	PFKP_ENST00000381125.4_Missense_Mutation_p.R522P	p.R514P	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)	18	1765	+			522					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.1541G>C	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	g	34	5.328700	0.95733	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075	T;T	0.80994	-1.44;-1.44	5.7	5.7	0.88788	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.93805	0.8019	H	0.97103	3.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95080	0.8212	10	0.87932	D	0	.	20.1982	0.98246	0.0:0.0:1.0:0.0	.	514;514;522	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	P	522;511;514	ENSP00000370517:R522P;ENSP00000370465:R514P	ENSP00000370465:R514P	R	+	2	0	PFKP	3152118	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	9.551000	0.98112	2.848000	0.98002	0.655000	0.94253	CGG		0.632	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		27	77	0	0	0	1	0	27	77					C	3162118	G	C	3162118	3	2	45	1	0	0	0	0	1	0	0	0	11775	1116	39	5	1627	5	PFKP	10	3162118	Missense_Mutation	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08		3162118	132372629	29	4272										
OR51A2	401667	broad.mit.edu	37	chr11	4976601	4976601	+	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	tgacatgatcaggaggactgAggactccagtactgagaatc	12	8	1	4			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr11:4976601A>G	ENST00000380371.1	-	1	342	c.343T>C	c.(343-345)Tca>Cca	p.S115P	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	115						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(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGAGGACTGAGGACTCCAGT	0.453																																						ENST00000380371.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(343-345)Tca>Cca		olfactory receptor, family 51, subfamily A, member 2							100	76	84					11																	4976601		1960	3530	5490	SO:0001583	missense	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976601A>G	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"GPCR / Class A : Olfactory receptors"	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.343T>C	11.37:g.4976601A>G	ENSP00000369729:p.Ser115Pro		Somatic				MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.S115P	NM_001004748.1	NP_001004748.1	WXS	Illumina GAIIx	Phase_I	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	342	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	115						Missense_Mutation	SNP	ENST00000380371.1	37	c.343T>C	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	9.359	1.067566	0.20067	.	.	ENSG00000205496	ENST00000380371	T	0.37915	1.17	2.95	0.264	0.15607	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.66327	0.2778	H	0.95328	3.655	0.09310	N	1	D	0.76494	0.999	D	0.77004	0.989	T	0.55483	-0.8134	9	0.62326	D	0.03	.	8.7023	0.34334	0.6738:0.3262:0.0:0.0	.	115	Q8NGJ7	O51A2_HUMAN	P	115	ENSP00000369729:S115P	ENSP00000369729:S115P	S	-	1	0	OR51A2	4933177	0.000000	0.05858	0.006000	0.13384	0.060000	0.15804	0.297000	0.19101	-0.065000	0.13021	0.325000	0.21440	TCA		0.453	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		4	68	0	0	0	1	0	4	68					G	4976601	A	G	4976601	3	3	45	1	0	0	0	0	1	0	0	0	11095	304	11	4	600	4	OR51A2	11	4976601	Missense_Mutation	SNP	A	TCGA-NA-A5I1-01A-21D-A28R-08		4976601	130029915	30	4273										
NLRP10	338322	broad.mit.edu	37	chr11	7984813	7984813	+	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	acaggttcatgaccttcaagCccttgaggacaactttcaca	7	12	3	2			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr11:7984813C>T	ENST00000328600.2	-	1	391	c.230G>A	c.(229-231)gGc>gAc	p.G77D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	77	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				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)		GACCTTCAAGCCCTTGAGGAC	0.542																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(229-231)gGc>gAc		NLR family, pyrin domain containing 10							100	94	96					11																	7984813		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7984813C>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.230G>A	11.37:g.7984813C>T	ENSP00000327763:p.Gly77Asp		Somatic					p.G77D	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)	1	391	-			77			DAPIN.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.230G>A	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	8.216	0.801455	0.16397	.	.	ENSG00000182261	ENST00000328600	T	0.47528	0.84	3.66	-3.99	0.04069	Pyrin (2);DEATH-like (2);	1.452200	0.04704	N	0.416377	T	0.38321	0.1036	N	0.22421	0.69	0.09310	N	1	P	0.38335	0.627	P	0.44422	0.449	T	0.47724	-0.9095	10	0.87932	D	0	.	7.1214	0.25446	0.2347:0.5588:0.2065:0.0	.	77	Q86W26	NAL10_HUMAN	D	77	ENSP00000327763:G77D	ENSP00000327763:G77D	G	-	2	0	NLRP10	7941389	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.024000	0.12435	-0.760000	0.04677	-0.309000	0.09137	GGC		0.542	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		35	4	0	0	0	1	0	35	4					T	7984813	C	T	7984813	3	4	45	1	0	0	0	0	1	0	0	0	10481	739	26	3	1745	3	NLRP10	11	7984813	Missense_Mutation	SNP	C	TCGA-NA-A5I1-01A-21D-A28R-08	3008212	7984813	127021703	31	4274										
INSC	387755	broad.mit.edu	37	chr11	15260618	15260618	+	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	acgggaggccgtgcggctcaGctgtgagtggtgctttctgg	18	9	2	1			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr11:15260618G>C	ENST00000379554.3	+	11	1578	c.1532G>C	c.(1531-1533)aGc>aCc	p.S511T	INSC_ENST00000447214.2_3'UTR|INSC_ENST00000525218.1_Missense_Mutation_p.S422T|INSC_ENST00000530161.1_Missense_Mutation_p.S464T|INSC_ENST00000379556.3_Missense_Mutation_p.S464T|INSC_ENST00000424273.1_Missense_Mutation_p.S422T|INSC_ENST00000528567.1_Missense_Mutation_p.S464T	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	511					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GTGCGGCTCAGCTGTGAGTGG	0.617																																						ENST00000379554.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1531-1533)aGc>aCc		inscuteable homolog (Drosophila)							36	38	37					11																	15260618		2103	4218	6321	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15260618G>C	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1532G>C	11.37:g.15260618G>C	ENSP00000368872:p.Ser511Thr		Somatic				INSC_ENST00000379556.3_Missense_Mutation_p.S464T|INSC_ENST00000525218.1_Missense_Mutation_p.S422T|INSC_ENST00000530161.1_Missense_Mutation_p.S464T|INSC_ENST00000424273.1_Missense_Mutation_p.S422T|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Missense_Mutation_p.S464T	p.S511T	NM_001031853.3	NP_001027024.3	WXS	Illumina GAIIx	Phase_I	Q1MX18	INSC_HUMAN			11	1578	+			511					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.1532G>C	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.275086	0.40194	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.171847	0.53938	D	0.000041	T	0.31071	0.0785	N	0.22421	0.69	0.29713	N	0.839275	P;B;B;B	0.38195	0.622;0.11;0.372;0.372	B;B;B;B	0.36092	0.217;0.056;0.114;0.114	T	0.22521	-1.0214	10	0.22706	T	0.39	-21.2804	10.2142	0.43158	0.1471:0.0:0.8529:0.0	.	499;422;464;511	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	T	511;464;422;464;464;422	ENSP00000368872:S511T;ENSP00000368874:S464T;ENSP00000389161:S422T;ENSP00000435022:S464T;ENSP00000436194:S464T;ENSP00000436113:S422T	ENSP00000368872:S511T	S	+	2	0	INSC	15217194	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.723000	0.54955	2.672000	0.90937	0.655000	0.94253	AGC		0.617	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		16	19	0	0	0	1	0	16	19					C	15260618	G	C	15260618	3	2	45	1	0	0	0	0	1	0	0	0	7773	971	34	5	1574	5	INSC	11	15260618	Missense_Mutation	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08	7275805	15260618	119745898	32	4275										
AHNAK	79026	broad.mit.edu	37	chr11	62291941	62291941	+	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	ttaatgtcaccttccaacttGggcccagagacatcaacatc	6	13	2	1			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr11:62291941G>C	ENST00000378024.4	-	5	10222	c.9948C>G	c.(9946-9948)ccC>ccG	p.P3316P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3316					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)				CTTCCAACTTGGGCCCAGAGA	0.443																																						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.(9946-9948)ccC>ccG		AHNAK nucleoprotein							82	71	75					11																	62291941		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62291941G>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.9948C>G	11.37:g.62291941G>C			Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P3316P	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	10222	-		Melanoma(852;0.155)	3316					A1A586	Silent	SNP	ENST00000378024.4	37	c.9948C>G	CCDS31584.1																																																																																				0.443	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		26	22	0	0	0	1	0	26	22					C	62291941	G	C	62291941	2	2	45	1	0	0	0	0	0	0	0	1	414	1335	47	5		5	AHNAK	11	62291941	Silent	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08	47031323	62291941	72714575	33	4276										
UNC93B1	81622	broad.mit.edu	37	chr11	67763096	67763096	+	Frame_Shift_Del	DEL	T	T	-													0	0	1	0	0	0	1	1	0	actcactgctgagtccagtcTtgttcagggcactgcccaca							TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr11:67763096delT	ENST00000227471.2	-	10	1425	c.1346delA	c.(1345-1347)aagfs	p.K449fs	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	450					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											GAGTCCAGTCTTGTTCAGGGC	0.602																																						ENST00000227471.2																			0											c.(1345-1347)agfs		unc-93 homolog B1 (C. elegans)							9	8	8					11																	67763096		1701	3612	5313	SO:0001589	frameshift_variant	81622				innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome		g.chr11:67763096delT	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1346delA	11.37:g.67763096delT	ENSP00000227471:p.Lys449fs		Somatic				UNC93B1_ENST00000530331.1_5'UTR	p.K449fs	NM_030930.2	NP_112192.2	WXS	Illumina GAIIx	Phase_I	Q9H1C4	UN93B_HUMAN			10	1425	-			450					O95764|Q569H6|Q710D4	Frame_Shift_Del	DEL	ENST00000227471.2	37	c.1346delA																																																																																					0.602	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_030930		2	4						2	4	---	---	---	---	-	67763096	T	-	67763096	7	5	45	1	0	1	0	1	0	0	0	0	17012	1609	56	0	456	0	UNC93B1	11	67763096	Frame_Shift_Del	DEL	T	TCGA-NA-A5I1-01A-21D-A28R-08	5471155	67763096	67243420	34	4277										
APOBEC1	339	broad.mit.edu	37	chr12	7805124	7805124	+	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	atccatgtgccaaaaaagccGagctacgtagatcactagag	9	10	1	2			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr12:7805124G>A	ENST00000229304.4	-	3	372	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	118					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAAAAAAGCCGAGCTACGTAG	0.483																																					Pancreas(135;929 1826 4531 10527 41012)	ENST00000229304.4																			0				kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(352-354)Cgg>Tgg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1							80	76	77					12																	7805124		2203	4300	6503	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7805124G>A	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"Apolipoprotein B mRNA editing enzymes"	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.352C>T	12.37:g.7805124G>A	ENSP00000229304:p.Arg118Trp		Somatic					p.R118W	NM_001644.3	NP_001635.2	WXS	Illumina GAIIx	Phase_I	P41238	ABEC1_HUMAN			3	372	-			118					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.352C>T	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610202	0.28712	.	.	ENSG00000111701	ENST00000229304	T	0.68331	-0.32	4.78	2.88	0.33553	APOBEC-like, N-terminal (1);	0.000000	0.49916	D	0.000136	D	0.83613	0.5292	M	0.92169	3.28	0.28713	N	0.903447	D	0.89917	1.0	D	0.91635	0.999	T	0.78666	-0.2115	10	0.87932	D	0	-21.1782	10.2799	0.43532	0.0:0.0:0.6418:0.3582	.	118	P41238	ABEC1_HUMAN	W	118	ENSP00000229304:R118W	ENSP00000229304:R118W	R	-	1	2	APOBEC1	7696391	0.645000	0.27286	0.430000	0.26722	0.001000	0.01503	1.034000	0.30204	0.518000	0.28383	-0.268000	0.10319	CGG		0.483	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		31	30	0	0	0	1	0	31	30					A	7805124	G	A	7805124	3	1	45	1	0	0	0	0	1	0	0	0	787	1057	37	1	370	1	APOBEC1	12	7805124	Missense_Mutation	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08		7805124	126046771	35	4278										
ITGA7	3679	broad.mit.edu	37	chr12	56078974	56078976	+	In_Frame_Del	DEL	CTC	CTC	-													0	0	1	0	0	0	1	1	0	ctcaggatggtgcccgtcttCtcctccttgaactgctgtcg							TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr12:56078974_56078976delCTC	ENST00000555728.1	-	26	3440_3442	c.3412_3414delGAG	c.(3412-3414)gagdel	p.E1138del	ITGA7_ENST00000347027.6_In_Frame_Del_p.E1088del|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000553804.1_In_Frame_Del_p.E1098del|ITGA7_ENST00000257879.6_In_Frame_Del_p.E1094del|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000452168.2_In_Frame_Del_p.E1001del			Q13683	ITA7_HUMAN	integrin, alpha 7	1138					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						TGCCCGTCTTCTCCTCCTTGAAC	0.645																																						ENST00000257879.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3280-3282)del		integrin, alpha 7																																				SO:0001651	inframe_deletion	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56078974_56078976delCTC		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.3412_3414delGAG	12.37:g.56078977_56078979delCTC	ENSP00000452387:p.Glu1138del		Somatic				ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000553804.1_In_Frame_Del_p.E1098del|ITGA7_ENST00000452168.2_In_Frame_Del_p.E1001del|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000347027.6_In_Frame_Del_p.E1088del|ITGA7_ENST00000555728.1_In_Frame_Del_p.E1138del	p.E1094del	NM_002206.2	NP_002197.2	WXS	Illumina GAIIx	Phase_I	Q13683	ITA7_HUMAN			25	3495_3497	-			1138					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	In_Frame_Del	DEL	ENST00000555728.1	37	c.3280_3282delGAG																																																																																					0.645	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		33	43						33	43	---	---	---	---	-	56078976	CTC	-	56078974	7	5	45	1	0	1	0	1	0	0	0	0	7890	912	32	0	135	0	ITGA7	12	56078974	In_Frame_Del	DEL	CTC	TCGA-NA-A5I1-01A-21D-A28R-08	48273850	56078974	77772921	36	4279										
ANKRD52	283373	broad.mit.edu	37	chr12	56638535	56638535	+	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	ttgatgctgcagcagcatccGgagcccagagacattgtccg	12	12	0	2			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr12:56638535G>A	ENST00000267116.7	-	24	2744	c.2623C>T	c.(2623-2625)Cgg>Tgg	p.R875W	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	875										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGCAGCATCCGGAGCCCAGAG	0.607																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(2623-2625)Cgg>Tgg		ankyrin repeat domain 52							55	58	57					12																	56638535		2154	4254	6408	SO:0001583	missense	283373						protein binding	g.chr12:56638535G>A	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2623C>T	12.37:g.56638535G>A	ENSP00000267116:p.Arg875Trp		Somatic					p.R875W	NM_173595.3	NP_775866.2	WXS	Illumina GAIIx	Phase_I	Q8NB46	ANR52_HUMAN			24	2744	-			875					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.2623C>T	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	G	35	5.467320	0.96257	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.66815	-0.23	4.53	4.53	0.55603	Ankyrin repeat-containing domain (4);	0.066824	0.64402	D	0.000009	T	0.78136	0.4236	M	0.80847	2.515	0.50171	D	0.999858	D	0.67145	0.996	P	0.55303	0.773	T	0.80677	-0.1276	9	.	.	.	.	16.5704	0.84611	0.0:0.0:1.0:0.0	.	875	Q8NB46	ANR52_HUMAN	W	875	ENSP00000267116:R875W	.	R	-	1	2	ANKRD52	54924802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.629000	0.98417	2.527000	0.85204	0.655000	0.94253	CGG		0.607	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		37	104	0	0	0	1	0	37	104					A	56638535	G	A	56638535	3	1	45	1	0	0	0	0	1	0	0	0	678	1115	39	1	627	1	ANKRD52	12	56638535	Missense_Mutation	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08	559561	56638535	77213360	37	4280										
PTPRB	5787	broad.mit.edu	37	chr12	70963618	70963618	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	ctgtgcctgaatgccgacacCgtgtaggaatcaacgtctcc	10	13	2	1	rs61757802	byFrequency	TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr12:70963618C>A	ENST00000261266.5	-	12	2846	c.2817G>T	c.(2815-2817)acG>acT	p.T939T	PTPRB_ENST00000551525.1_Silent_p.T1156T|PTPRB_ENST00000334414.6_Silent_p.T1157T|PTPRB_ENST00000538708.1_Silent_p.T939T|PTPRB_ENST00000550358.1_Silent_p.T1069T|PTPRB_ENST00000550857.1_Silent_p.T849T|PTPRB_ENST00000451516.2_Silent_p.T849T	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	939	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> M (in dbSNP:rs2304821).		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)			ATGCCGACACCGTGTAGGAAT	0.517																																						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.(3469-3471)acG>acT		protein tyrosine phosphatase, receptor type, B							88	88	88					12																	70963618		2044	4182	6226	SO:0001819	synonymous_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70963618C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2817G>T	12.37:g.70963618C>A			Somatic				PTPRB_ENST00000538708.1_Silent_p.T939T|PTPRB_ENST00000550358.1_Silent_p.T1069T|PTPRB_ENST00000551525.1_Silent_p.T1156T|PTPRB_ENST00000550857.1_Silent_p.T849T|PTPRB_ENST00000451516.2_Silent_p.T849T|PTPRB_ENST00000261266.5_Silent_p.T939T	p.T1157T	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)		14	3515	-	Renal(347;0.236)		939			Fibronectin type-III 13.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.3471G>T	CCDS44944.1																																																																																				0.517	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			19	33	1	0	8.10497e-08	1	8.31549e-08	19	33					A	70963618	C	A	70963618	2	1	45	1	0	0	0	0	0	0	0	1	12811	639	23	5		5	PTPRB	12	70963618	Silent	SNP	C	TCGA-NA-A5I1-01A-21D-A28R-08	14325083	70963618	62888277	38	4281										
TDRD9	122402	broad.mit.edu	37	chr14	104491922	104491922	+	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	tggttgaagtgggacactttTggggatacaggattgatgaa	15	3	0	3			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr14:104491922T>G	ENST00000409874.4	+	26	2788	c.2740T>G	c.(2740-2742)Tgg>Ggg	p.W914G	TDRD9_ENST00000339063.5_Missense_Mutation_p.W914G	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	914					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)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GGGACACTTTTGGGGATACAG	0.443																																						ENST00000409874.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.(2740-2742)Tgg>Ggg		tudor domain containing 9							55	60	58					14																	104491922		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104491922T>G	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2740T>G	14.37:g.104491922T>G	ENSP00000387303:p.Trp914Gly		Somatic				TDRD9_ENST00000339063.5_Missense_Mutation_p.W914G	p.W914G	NM_153046.2	NP_694591.2	WXS	Illumina GAIIx	Phase_I	Q8NDG6	TDRD9_HUMAN			26	2788	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	914					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.2740T>G	CCDS9987.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.24|19.24	3.788655|3.788655	0.70337|0.70337	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000557332|ENST00000409874;ENST00000339063	.|T;T	.|0.11063	.|2.81;2.81	5.09|5.09	5.09|5.09	0.68999|0.68999	.|Maternal tudor protein (1);	.|0.000000	.|0.56097	.|D	.|0.000025	T|T	0.37812|0.37812	0.1017|0.1017	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.39396|0.39396	-0.9616|-0.9616	5|10	.|0.87932	.|D	.|0	.|.	14.8915|14.8915	0.70611|0.70611	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|914;914	.|Q8NDG6-2;Q8NDG6	.|.;TDRD9_HUMAN	W|G	640|914	.|ENSP00000387303:W914G;ENSP00000343545:W914G	.|ENSP00000343545:W914G	L|W	+|+	2|1	0|0	TDRD9|TDRD9	103561675|103561675	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	6.942000|6.942000	0.75928|0.75928	1.919000|1.919000	0.55581|0.55581	0.455000|0.455000	0.32223|0.32223	TTG|TGG		0.443	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		19	44	0	0	0	1	0	19	44					G	104491922	T	G	104491922	3	3	45	1	0	0	0	0	1	0	0	0	15751	1812	63	4	2842	4	TDRD9	14	104491922	Missense_Mutation	SNP	T	TCGA-NA-A5I1-01A-21D-A28R-08		104491922	2857618	39	4282										
AHNAK2	113146	broad.mit.edu	37	chr14	105416359	105416359	+	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	tcacatccttgtcggccaggGacaggtcaccctccagccgc	10	17	2	0			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr14:105416359G>C	ENST00000333244.5	-	7	5548	c.5429C>G	c.(5428-5430)tCc>tGc	p.S1810C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1810						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)			GTCGGCCAGGGACAGGTCACC	0.617																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5428-5430)tCc>tGc		AHNAK nucleoprotein 2							144	175	165					14																	105416359		1991	4139	6130	SO:0001583	missense	113146					nucleus		g.chr14:105416359G>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5429C>G	14.37:g.105416359G>C	ENSP00000353114:p.Ser1810Cys		Somatic				AHNAK2_ENST00000557457.1_Intron	p.S1810C	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	5548	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1810					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5429C>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	14.03	2.412485	0.42817	.	.	ENSG00000185567	ENST00000333244	T	0.00695	5.83	4.3	-2.75	0.05914	.	.	.	.	.	T	0.01905	0.0060	M	0.79805	2.47	0.09310	N	1	D	0.63046	0.992	P	0.54431	0.752	T	0.34825	-0.9813	9	0.59425	D	0.04	.	1.9613	0.03387	0.3031:0.0958:0.4036:0.1975	.	1810	Q8IVF2	AHNK2_HUMAN	C	1810	ENSP00000353114:S1810C	ENSP00000353114:S1810C	S	-	2	0	AHNAK2	104487404	.	.	0.000000	0.03702	0.090000	0.18270	.	.	-0.308000	0.08792	0.456000	0.33151	TCC		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	632	0	0	0	1	0	9	632					C	105416359	G	C	105416359	3	2	45	1	0	0	0	0	1	0	0	0	415	1174	41	2	11962	2	AHNAK2	14	105416359	Missense_Mutation	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08	924437	105416359	1933181	40	4283										
SCNN1B	6338	broad.mit.edu	37	chr16	23366760	23366760	+	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	gtagagatgagctaccccggCgagcagatgatcctggcctg	14	11	0	4	rs148125384		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr16:23366760C>G	ENST00000343070.2	+	4	902	c.726C>G	c.(724-726)ggC>ggG	p.G242G	SCNN1B_ENST00000568085.1_Silent_p.G242G|SCNN1B_ENST00000307331.5_Silent_p.G287G|SCNN1B_ENST00000568923.1_Silent_p.G215G	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	242					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)	GCTACCCCGGCGAGCAGATGA	0.617																																						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.(724-726)ggC>ggG		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						87	73	78					16																	23366760		2197	4300	6497	SO:0001819	synonymous_variant	0				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23366760C>G	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.726C>G	16.37:g.23366760C>G			Somatic				SCNN1B_ENST00000307331.5_Silent_p.G287G|SCNN1B_ENST00000568085.1_Silent_p.G242G|SCNN1B_ENST00000568923.1_Silent_p.G215G	p.G242G	NM_000336.2	NP_000327.2	WXS	Illumina GAIIx	Phase_I	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	4	902	+			242					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	37	c.726C>G	CCDS10609.1																																																																																				0.617	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			37	3	0	0	0	1	0	37	3					G	23366760	C	G	23366760	2	3	45	1	0	0	0	0	0	0	0	1	13943	755	27	5		5	SCNN1B	16	23366760	Silent	SNP	C	TCGA-NA-A5I1-01A-21D-A28R-08		23366760	66987993	41	4284										
CNOT1	23019	broad.mit.edu	37	chr16	58565875	58565875	+	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	gccacaccttctgctgtggcGtatgtgccagcattcttgca	10	13	2	0			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr16:58565875G>C	ENST00000317147.5	-	42	6496	c.6164C>G	c.(6163-6165)aCg>aGg	p.T2055R	CNOT1_ENST00000245138.4_Missense_Mutation_p.T906R|CNOT1_ENST00000569240.1_Missense_Mutation_p.T2050R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2055					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)		CTGCTGTGGCGTATGTGCCAG	0.423																																						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.(6163-6165)aCg>aGg		CCR4-NOT transcription complex, subunit 1							111	104	106					16																	58565875		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.chr16:58565875G>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.6164C>G	16.37:g.58565875G>C	ENSP00000320949:p.Thr2055Arg		Somatic				CNOT1_ENST00000245138.4_Missense_Mutation_p.T906R|CNOT1_ENST00000569240.1_Missense_Mutation_p.T2050R	p.T2055R	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)	42	6496	-			2055					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.6164C>G	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711298	0.89112	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138;ENST00000394200	T	0.47869	0.83	5.52	5.52	0.82312	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	M	0.68593	2.085	0.80722	D	1	D;D;D	0.65815	0.995;0.981;0.98	P;P;P	0.61275	0.866;0.886;0.838	T	0.55958	-0.8058	10	0.16896	T	0.51	.	19.7884	0.96447	0.0:0.0:1.0:0.0	.	906;2055;2050	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	R	2055;749;60;906;2050	ENSP00000320949:T2055R	ENSP00000245138:T906R	T	-	2	0	CNOT1	57123376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.758000	0.94735	0.650000	0.86243	ACG		0.423	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		34	4	0	0	0	1	0	34	4					C	58565875	G	C	58565875	3	2	45	1	0	0	0	0	1	0	0	0	3619	1145	40	5	998	5	CNOT1	16	58565875	Missense_Mutation	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08	35199115	58565875	31788878	42	4285										
LRRC36	55282	broad.mit.edu	37	chr16	67404868	67404868	+	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	tctgtatgccacaacccattTcaacagtgaccctgctgtac	6	14	2	1			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr16:67404868T>A	ENST00000329956.6	+	9	1236	c.1217T>A	c.(1216-1218)tTc>tAc	p.F406Y	LRRC36_ENST00000290940.7_Missense_Mutation_p.F138Y|LRRC36_ENST00000563189.1_Missense_Mutation_p.F285Y|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000435835.3_Missense_Mutation_p.F285Y	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	406										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)		ACAACCCATTTCAACAGTGAC	0.473																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1216-1218)tTc>tAc		leucine rich repeat containing 36							191	165	174					16																	67404868		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67404868T>A	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1217T>A	16.37:g.67404868T>A	ENSP00000329943:p.Phe406Tyr		Somatic				LRRC36_ENST00000563189.1_Missense_Mutation_p.F285Y|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000435835.3_Missense_Mutation_p.F285Y|LRRC36_ENST00000290940.7_Missense_Mutation_p.F138Y	p.F406Y	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	1236	+		Ovarian(137;0.192)	406					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.1217T>A	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.298343	0.60195	.	.	ENSG00000159708	ENST00000329956;ENST00000290940;ENST00000435835	T;T;T	0.52754	2.98;0.65;1.26	5.7	3.28	0.37604	.	0.658399	0.15542	N	0.256886	T	0.60117	0.2244	L	0.56769	1.78	0.80722	D	1	B;P;D;D	0.62365	0.015;0.539;0.991;0.989	B;B;P;D	0.70487	0.016;0.12;0.801;0.969	T	0.58070	-0.7701	10	0.59425	D	0.04	-4.9654	7.8292	0.29332	0.3343:0.0:0.0:0.6657	.	285;138;285;406	B7Z7B3;Q9NV11;Q1X8D7-2;Q1X8D7	.;.;.;LRC36_HUMAN	Y	406;138;285	ENSP00000329943:F406Y;ENSP00000290940:F138Y;ENSP00000411122:F285Y	ENSP00000290940:F138Y	F	+	2	0	LRRC36	65962369	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	1.211000	0.32382	0.961000	0.38030	0.459000	0.35465	TTC		0.473	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		148	7	0	0	0	1	0	148	7					A	67404868	T	A	67404868	3	1	45	1	0	0	0	0	1	0	0	0	8999	1783	62	4	1279	4	LRRC36	16	67404868	Missense_Mutation	SNP	T	TCGA-NA-A5I1-01A-21D-A28R-08	8838993	67404868	22949885	43	4286										
SLC16A13	201232	broad.mit.edu	37	chr17	6941536	6941536	+	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	cctgttatttctctcgccgaCgatccctggccaccgggctg	10	16	1	0			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:6941536C>G	ENST00000308027.6	+	3	717	c.409C>G	c.(409-411)Cga>Gga	p.R137G		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	137						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						CTCTCGCCGACGATCCCTGGC	0.597																																						ENST00000308027.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(409-411)Cga>Gga		solute carrier family 16, member 13							72	75	74					17																	6941536		2203	4300	6503	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6941536C>G	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.409C>G	17.37:g.6941536C>G	ENSP00000309751:p.Arg137Gly		Somatic					p.R137G	NM_201566.2	NP_963860.1	WXS	Illumina GAIIx	Phase_I	Q7RTY0	MOT13_HUMAN			3	717	+			137					A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.409C>G	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143806	0.57044	.	.	ENSG00000174327	ENST00000308027	T	0.70282	-0.47	5.54	5.54	0.83059	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.88314	0.6403	M	0.93328	3.405	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.90917	0.4780	10	0.72032	D	0.01	.	16.971	0.86300	0.0:1.0:0.0:0.0	.	137	Q7RTY0	MOT13_HUMAN	G	137	ENSP00000309751:R137G	ENSP00000309751:R137G	R	+	1	2	SLC16A13	6882260	0.856000	0.29760	0.916000	0.36221	0.546000	0.35178	1.664000	0.37439	2.602000	0.87976	0.563000	0.77884	CGA		0.597	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			44	7	0	0	0	1	0	44	7					G	6941536	C	G	6941536	3	3	45	1	0	0	0	0	1	0	0	0	14421	528	19	5	419	5	SLC16A13	17	6941536	Missense_Mutation	SNP	C	TCGA-NA-A5I1-01A-21D-A28R-08		6941536	74253674	44	4287										
DHX8	1659	broad.mit.edu	37	chr17	41582141	41582141	+	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	aaagacccagatgtcaatccTtgagcagagggagagcctgc	12	10	1	5			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:41582141T>A	ENST00000262415.3	+	12	1748	c.1676T>A	c.(1675-1677)cTt>cAt	p.L559H	DHX8_ENST00000540306.1_Missense_Mutation_p.L559H	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	559					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATGTCAATCCTTGAGCAGAGG	0.473																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1675-1677)cTt>cAt		DEAH (Asp-Glu-Ala-His) box polypeptide 8							110	109	110					17																	41582141		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41582141T>A	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1676T>A	17.37:g.41582141T>A	ENSP00000262415:p.Leu559His		Somatic				DHX8_ENST00000540306.1_Missense_Mutation_p.L559H	p.L559H	NM_004941.1	NP_004932.1	WXS	Illumina GAIIx	Phase_I	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	12	1748	+		Breast(137;0.00908)	559						Missense_Mutation	SNP	ENST00000262415.3	37	c.1676T>A	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486253	0.44147	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.24908	1.83;1.83	5.36	5.36	0.76844	.	0.554792	0.19439	N	0.114221	T	0.32194	0.0821	M	0.69463	2.115	0.46028	D	0.998824	B;B	0.23128	0.08;0.026	B;B	0.27170	0.077;0.022	T	0.08126	-1.0737	10	0.49607	T	0.09	.	14.5333	0.67942	0.0:0.0:0.0:1.0	.	559;559	F5H658;Q14562	.;DHX8_HUMAN	H	559	ENSP00000437886:L559H;ENSP00000262415:L559H	ENSP00000262415:L559H	L	+	2	0	DHX8	38937667	1.000000	0.71417	0.752000	0.31206	0.568000	0.35870	7.947000	0.87758	2.043000	0.60533	0.454000	0.30748	CTT		0.473	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			163	71	0	0	0	1	0	163	71					A	41582141	T	A	41582141	3	1	45	1	0	0	0	0	1	0	0	0	4517	1609	56	4	1722	4	DHX8	17	41582141	Missense_Mutation	SNP	T	TCGA-NA-A5I1-01A-21D-A28R-08	34640605	41582141	39613069	45	4288										
SPOP	8405	broad.mit.edu	37	chr17	47696599	47696599	+	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	aagaggagaacatttacccaTagctttggtttcttctccct	7	10	2	2			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:47696599T>C	ENST00000393328.2	-	5	714	c.349A>G	c.(349-351)Atg>Gtg	p.M117V	SPOP_ENST00000393331.3_Missense_Mutation_p.M117V|SPOP_ENST00000504102.1_Missense_Mutation_p.M117V|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.M117V|SPOP_ENST00000347630.2_Missense_Mutation_p.M117V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	117	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.M117V(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CATTTACCCATAGCTTTGGTT	0.413										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(2)	p.M117V(2)	endometrium(2)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(349-351)Atg>Gtg		speckle-type POZ protein							148	136	140					17																	47696599		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696599T>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.349A>G	17.37:g.47696599T>C	ENSP00000377001:p.Met117Val	Prostate(2;0.17)	Somatic				SPOP_ENST00000347630.2_Missense_Mutation_p.M117V|SPOP_ENST00000504102.1_Missense_Mutation_p.M117V|SPOP_ENST00000503676.1_Missense_Mutation_p.M117V|SPOP_ENST00000393328.2_Missense_Mutation_p.M117V	p.M117V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	WXS	Illumina GAIIx	Phase_I	O43791	SPOP_HUMAN			6	819	-			117			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.349A>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.696398	0.30142	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.54675	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;0.56	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.036122	0.85682	D	0.000000	T	0.35008	0.0917	N	0.16478	0.41	0.80722	D	1	B	0.10296	0.003	B	0.14578	0.011	T	0.20075	-1.0286	10	0.07482	T	0.82	.	15.4649	0.75390	0.0:0.0:0.0:1.0	.	117	O43791	SPOP_HUMAN	V	117;117;117;117;1;117;70;117;117;117;117;117	ENSP00000377001:M117V;ENSP00000377004:M117V;ENSP00000240327:M117V;ENSP00000425905:M117V;ENSP00000420908:M117V;ENSP00000426986:M117V;ENSP00000420960:M117V;ENSP00000426262:M117V;ENSP00000424119:M117V;ENSP00000426537:M117V	ENSP00000240327:M117V	M	-	1	0	SPOP	45051598	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	7.787000	0.85759	2.317000	0.78254	0.460000	0.39030	ATG		0.413	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		26	41	0	0	0	1	0	26	41					C	47696599	T	C	47696599	3	2	45	1	0	0	0	0	1	0	0	0	15099	1406	49	4	803	4	SPOP	17	47696599	Missense_Mutation	SNP	T	TCGA-NA-A5I1-01A-21D-A28R-08	6114458	47696599	33498611	46	4289										
ITGA3	3675	broad.mit.edu	37	chr17	48165680	48165680	+	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	ccagccgtcagagacagagaGgctgaccgacgactactgag	13	12	1	4			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:48165680G>A	ENST00000320031.8	+	25	3467	c.3137G>A	c.(3136-3138)aGg>aAg	p.R1046K	ITGA3_ENST00000007722.7_Intron	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)	1046					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						GAGACAGAGAGGCTGACCGAC	0.697																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(3136-3138)aGg>aAg		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							12	15	14					17																	48165680		2176	4268	6444	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48165680G>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.3137G>A	17.37:g.48165680G>A	ENSP00000315190:p.Arg1046Lys		Somatic				ITGA3_ENST00000007722.7_Intron	p.R1046K	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	WXS	Illumina GAIIx	Phase_I	P26006	ITA3_HUMAN			25	3467	+			1046					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.3137G>A	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012195	0.75046	.	.	ENSG00000005884	ENST00000538917;ENST00000320031	T	0.24723	1.84	5.1	5.1	0.69264	.	.	.	.	.	T	0.22975	0.0555	L	0.43923	1.385	0.80722	D	1	P	0.48503	0.911	B	0.39185	0.293	T	0.02450	-1.1157	9	0.37606	T	0.19	.	15.4188	0.74995	0.0:0.0:1.0:0.0	.	1046	P26006	ITA3_HUMAN	K	1032;1046	ENSP00000315190:R1046K	ENSP00000315190:R1046K	R	+	2	0	ITGA3	45520679	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.759000	0.47573	2.387000	0.81309	0.462000	0.41574	AGG		0.697	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		7	7	0	0	0	1	0	7	7					A	48165680	G	A	48165680	3	1	45	1	0	0	0	0	1	0	0	0	7886	1000	35	3	3235	3	ITGA3	17	48165680	Missense_Mutation	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08	469081	48165680	33029530	47	4290										
DNAH17	8632	broad.mit.edu	37	chr17	76490147	76490147	+	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	gccgctgcccgcattcccgaCgatgaacacggagtggcgga	14	14	0	1	rs199790803		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:76490147C>T	ENST00000585328.1	-	41	6488	c.6364G>A	c.(6364-6366)Gtc>Atc	p.V2122I	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'Flank|RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000389840.5_Missense_Mutation_p.V2113I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2113	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)			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)			GCATTCCCGACGATGAACACG	0.662																																						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.(6337-6339)Gtc>Atc		dynein, axonemal, heavy chain 17		C	ILE/VAL	1,4319		0,1,2159	33	39	37		6379	2.6	1	17		37	18,8494		0,18,4238	yes	missense	DNAH17	NM_173628.3	29	0,19,6397	TT,TC,CC		0.2115,0.0231,0.1481		2127/4463	76490147	19,12813	2160	4256	6416	SO:0001583	missense	8632							g.chr17:76490147C>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.6364G>A	17.37:g.76490147C>T	ENSP00000465516:p.Val2122Ile		Somatic				DNAH17_ENST00000585328.1_Missense_Mutation_p.V2122I|RP11-559N14.5_ENST00000585969.1_RNA|RP11-559N14.5_ENST00000591373.1_RNA	p.V2113I			WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		41	6461	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.6337G>A		.	.	.	.	.	.	.	.	.	.	C	1.099	-0.661700	0.03454	2.31E-4	0.002115	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.55234	0.53	4.84	2.62	0.31277	.	.	.	.	.	T	0.36608	0.0973	N	0.25031	0.7	0.25271	N	0.98952	.	.	.	.	.	.	T	0.23547	-1.0185	7	0.18276	T	0.48	.	8.1491	0.31130	0.0:0.3103:0.0:0.6897	.	.	.	.	I	2122;2113	ENSP00000374490:V2113I	ENSP00000300671:V2122I	V	-	1	0	DNAH17	74001742	0.999000	0.42202	1.000000	0.80357	0.055000	0.15305	0.949000	0.29109	0.673000	0.31224	-0.415000	0.06103	GTC		0.662	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		11	5	0	0	0	1	0	11	5					T	76490147	C	T	76490147	3	4	45	1	0	0	0	0	1	0	0	0	4603	536	19	1	7173	1	DNAH17	17	76490147	Missense_Mutation	SNP	C	TCGA-NA-A5I1-01A-21D-A28R-08	28324467	76490147	4705063	48	4291										
DTNA	1837	broad.mit.edu	37	chr18	32428344	32428344	+	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	ctggcagcagagtcctcttcGtctgtaagtagttggagtaa	12	8	2	1	rs202088347		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr18:32428344G>C	ENST00000399113.3	+	13	1350	c.1350G>C	c.(1348-1350)tcG>tcC	p.S450S	DTNA_ENST00000598774.1_Silent_p.S393S|DTNA_ENST00000599844.1_Silent_p.S72S|DTNA_ENST00000269190.7_Silent_p.S451S|DTNA_ENST00000399097.3_Silent_p.S98S|DTNA_ENST00000269191.6_Silent_p.S450S|DTNA_ENST00000597674.1_Silent_p.S72S|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000601125.1_Silent_p.S72S|DTNA_ENST00000595022.1_Silent_p.S390S|DTNA_ENST00000598142.1_Silent_p.S393S|DTNA_ENST00000591182.1_Silent_p.S98S|DTNA_ENST00000283365.9_Silent_p.S393S|DTNA_ENST00000269192.7_Silent_p.S159S|DTNA_ENST00000598334.1_Silent_p.S390S|DTNA_ENST00000399121.5_Silent_p.S390S|DTNA_ENST00000348997.5_Silent_p.S447S|DTNA_ENST00000444659.1_Silent_p.S450S|DTNA_ENST00000556414.3_Silent_p.S102S|DTNA_ENST00000597599.1_Silent_p.S390S			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	450	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						AGTCCTCTTCGTCTGTAAGTA	0.428																																						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.(1177-1179)tcG>tcC		dystrobrevin, alpha							74	68	70					18																	32428344		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.chr18:32428344G>C	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.1350G>C	18.37:g.32428344G>C			Somatic				DTNA_ENST00000597674.1_Silent_p.S72S|DTNA_ENST00000269191.6_Silent_p.S450S|DTNA_ENST00000591182.1_Silent_p.S98S|DTNA_ENST00000556414.3_Silent_p.S102S|DTNA_ENST00000599844.1_Silent_p.S72S|DTNA_ENST00000598334.1_Silent_p.S390S|DTNA_ENST00000601125.1_Silent_p.S72S|DTNA_ENST00000348997.5_Silent_p.S447S|DTNA_ENST00000598142.1_Silent_p.S393S|DTNA_ENST00000399097.3_Silent_p.S98S|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000598774.1_Silent_p.S393S|DTNA_ENST00000597599.1_Silent_p.S390S|DTNA_ENST00000444659.1_Silent_p.S450S|DTNA_ENST00000595022.1_Silent_p.S390S|DTNA_ENST00000399121.5_Silent_p.S390S|DTNA_ENST00000269190.7_Silent_p.S451S|DTNA_ENST00000399113.3_Silent_p.S450S|DTNA_ENST00000269192.7_Silent_p.S159S	p.S393S	NM_032975.3	NP_116757.2	WXS	Illumina GAIIx	Phase_I	Q9Y4J8	DTNA_HUMAN			13	1530	+			450					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.1179G>C	CCDS59311.1																																																																																				0.428	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		16	13	0	0	0	1	0	16	13					C	32428344	G	C	32428344	2	2	45	1	0	0	0	0	0	0	0	1	4790	1132	40	5		5	DTNA	18	32428344	Silent	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08		32428344	45648904	49	4292										
PDCD5	9141	broad.mit.edu	37	chr19	33077794	33077794	+	Nonsense_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	aaggtttaatagaaatccttAaaaaagtaagccaacaaaca	5	6	0	1			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr19:33077794A>T	ENST00000590247.2	+	5	483	c.289A>T	c.(289-291)Aaa>Taa	p.K97*	PDCD5_ENST00000419343.3_3'UTR|PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000586035.1_Nonsense_Mutation_p.K59*|PDCD5_ENST00000592786.1_Nonstop_Mutation_p.*66L	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	97					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)					AGAAATCCTTAAAAAAGTAAG	0.323																																						ENST00000590247.1																			0				breast(1)|large_intestine(2)|lung(1)|ovary(1)	5						c.(289-291)Aaa>Taa		programmed cell death 5							81	87	85					19																	33077794		2203	4300	6503	SO:0001587	stop_gained	9141				apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding	g.chr19:33077794A>T	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.289A>T	19.37:g.33077794A>T	ENSP00000466214:p.Lys97*		Somatic				PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000586035.1_Nonsense_Mutation_p.K59*|PDCD5_ENST00000592786.1_Nonstop_Mutation_p.*66L	p.K97*	NM_004708.3	NP_004699.1	WXS	Illumina GAIIx	Phase_I	O14737	PDCD5_HUMAN			5	483	+	Esophageal squamous(110;0.137)		97					B4DE64|Q53YC9|Q6IB70	Nonsense_Mutation	SNP	ENST00000590247.2	37	c.289A>T	CCDS12423.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682277	0.88542	.	.	ENSG00000105185	ENST00000221784	.	.	.	5.63	4.6	0.57074	.	0.044457	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	13.4516	0.61174	0.0773:0.0:0.9227:0.0	.	.	.	.	X	97	.	ENSP00000221784:K97X	K	+	1	0	PDCD5	37769634	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.778000	0.68940	1.356000	0.45884	-0.475000	0.04921	AAA		0.323	PDCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450320.2	NM_004708		25	53	0	0	0	1	0	25	53					T	33077794	A	T	33077794	4	4	45	1	0	0	0	0	0	1	0	0	11631	363	13	4	307	4	PDCD5	19	33077794	Nonsense_Mutation	SNP	A	TCGA-NA-A5I1-01A-21D-A28R-08		33077794	26051189	50	4293										
SULT2A1	6822	broad.mit.edu	37	chr19	48382317	48382317	+	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	ttcagctcctcataactcagTaacaggaagtttttctcctc	5	12	4	0			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr19:48382317T>A	ENST00000222002.3	-	4	682	c.543A>T	c.(541-543)ttA>ttT	p.L181F		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	181					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	CATAACTCAGTAACAGGAAGT	0.463																																						ENST00000222002.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20						c.(541-543)ttA>ttT		sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1							201	197	198					19																	48382317		2203	4300	6503	SO:0001583	missense	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48382317T>A	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"Sulfotransferases, cytosolic"	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.543A>T	19.37:g.48382317T>A	ENSP00000222002:p.Leu181Phe		Somatic					p.L181F	NM_003167.3	NP_003158.2	WXS	Illumina GAIIx	Phase_I	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	4	682	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	181						Missense_Mutation	SNP	ENST00000222002.3	37	c.543A>T	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	T	1.184	-0.637249	0.03557	.	.	ENSG00000105398	ENST00000222002	D	0.81659	-1.52	3.76	-7.53	0.01336	Sulfotransferase domain (1);	1.686880	0.04101	N	0.312906	T	0.46464	0.1394	N	0.00690	-1.25	0.09310	N	1	B	0.18166	0.026	B	0.24155	0.051	T	0.56111	-0.8033	10	0.05620	T	0.96	.	10.7669	0.46299	0.0:0.5799:0.2882:0.1319	.	181	Q06520	ST2A1_HUMAN	F	181	ENSP00000222002:L181F	ENSP00000222002:L181F	L	-	3	2	SULT2A1	53074129	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.249000	0.08842	-1.731000	0.01360	-0.408000	0.06270	TTA		0.463	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		20	186	0	0	0	1	0	20	186					A	48382317	T	A	48382317	3	1	45	1	0	0	0	0	1	0	0	0	15396	1635	57	4	326	4	SULT2A1	19	48382317	Missense_Mutation	SNP	T	TCGA-NA-A5I1-01A-21D-A28R-08	15304523	48382317	10746666	51	4294										
HSPBP1	23640	broad.mit.edu	37	chr19	55789014	55789014	+	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	gggggaagcggggtacctgcGgcattgtccatgttctcaca	15	10	1	0			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr19:55789014G>A	ENST00000255631.5	-	4	721	c.411C>T	c.(409-411)gcC>gcT	p.A137A	HSPBP1_ENST00000587922.1_Silent_p.A137A|HSPBP1_ENST00000433386.2_Silent_p.A137A|HSPBP1_ENST00000376343.3_Silent_p.A137A	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	140					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)			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)		GGGTACCTGCGGCATTGTCCA	0.672																																						ENST00000255631.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(409-411)gcC>gcT		HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1							34	34	34					19																	55789014		2202	4300	6502	SO:0001819	synonymous_variant	23640				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	g.chr19:55789014G>A		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.411C>T	19.37:g.55789014G>A			Somatic				HSPBP1_ENST00000433386.2_Silent_p.A137A|HSPBP1_ENST00000376343.3_Silent_p.A137A|HSPBP1_ENST00000587922.1_Silent_p.A137A	p.A137A	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	721	-			140					B3KQP0|B4DG11|O95351|Q6ZNU5	Silent	SNP	ENST00000255631.5	37	c.411C>T	CCDS33111.1																																																																																				0.672	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267		7	16	0	0	0	1	0	7	16					A	55789014	G	A	55789014	2	1	45	1	0	0	0	0	0	0	0	1	7435	1103	39	1		1	HSPBP1	19	55789014	Silent	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08	7406697	55789014	3339969	52	4295										
CTCFL	140690	broad.mit.edu	37	chr20	56093864	56093864	+	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	tttaaagggtttctcatgagTatgtttatagcgcctgtgtc	10	6	1	1			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr20:56093864T>C	ENST00000608263.1	-	4	1670	c.1009A>G	c.(1009-1011)Act>Gct	p.T337A	CTCFL_ENST00000371196.2_Missense_Mutation_p.T337A|CTCFL_ENST00000608158.1_Missense_Mutation_p.T337A|CTCFL_ENST00000422869.2_Missense_Mutation_p.T337A|CTCFL_ENST00000502686.2_Missense_Mutation_p.T75A|CTCFL_ENST00000433949.3_Missense_Mutation_p.T132A|CTCFL_ENST00000608440.1_Missense_Mutation_p.T337A|CTCFL_ENST00000481655.2_Missense_Mutation_p.T337A|CTCFL_ENST00000429804.3_Missense_Mutation_p.T337A|CTCFL_ENST00000423479.3_Missense_Mutation_p.T337A|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000432255.2_Missense_Mutation_p.T337A|CTCFL_ENST00000608425.1_Missense_Mutation_p.T337A|CTCFL_ENST00000539382.1_Missense_Mutation_p.T132A|CTCFL_ENST00000608903.1_Missense_Mutation_p.T75A|CTCFL_ENST00000609232.1_Missense_Mutation_p.T337A|CTCFL_ENST00000243914.3_Missense_Mutation_p.T337A	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	337					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)			TTCTCATGAGTATGTTTATAG	0.458																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1009-1011)Act>Gct		CCCTC-binding factor (zinc finger protein)-like							188	167	174					20																	56093864		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56093864T>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.1009A>G	20.37:g.56093864T>C	ENSP00000476783:p.Thr337Ala		Somatic				CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000371196.2_Missense_Mutation_p.T337A|CTCFL_ENST00000422109.2_Missense_Mutation_p.T337A|CTCFL_ENST00000502686.2_Missense_Mutation_p.T75A|CTCFL_ENST00000432255.2_Missense_Mutation_p.T337A|CTCFL_ENST00000423479.2_Missense_Mutation_p.T337A|CTCFL_ENST00000433949.2_Missense_Mutation_p.T337A|CTCFL_ENST00000243914.3_Missense_Mutation_p.T337A|CTCFL_ENST00000422869.2_Missense_Mutation_p.T337A|CTCFL_ENST00000539382.1_Missense_Mutation_p.T132A|CTCFL_ENST00000429804.2_Missense_Mutation_p.T337A	p.T337A			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)		4	1670	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		337					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.1009A>G	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.811665	0.70797	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73	4.77	4.77	0.60923	Zinc finger, C2H2 (1);	0.000000	0.42821	D	0.000652	T	0.46756	0.1409	L	0.59912	1.85	0.50171	D	0.999853	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.995;0.996;0.998;0.998;0.998;0.998	T	0.47873	-0.9083	10	0.87932	D	0	-20.5785	13.5812	0.61905	0.0:0.0:0.0:1.0	.	337;337;337;337;337;337;337;337	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	A	337;337;337;337;337;75;337;337;337;132;337	ENSP00000415579:T337A;ENSP00000243914:T337A;ENSP00000360239:T337A;ENSP00000415329:T337A;ENSP00000392034:T337A;ENSP00000437999:T75A;ENSP00000413713:T337A;ENSP00000403369:T337A;ENSP00000409344:T337A;ENSP00000439998:T132A;ENSP00000399061:T337A	ENSP00000243914:T337A	T	-	1	0	CTCFL	55527270	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	5.778000	0.68940	1.902000	0.55061	0.482000	0.46254	ACT		0.458	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		65	53	0	0	0	1	0	65	53					C	56093864	T	C	56093864	3	2	45	1	0	0	0	0	1	0	0	0	4003	1638	57	4	1010	4	CTCFL	20	56093864	Missense_Mutation	SNP	T	TCGA-NA-A5I1-01A-21D-A28R-08		56093864	6931656	53	4296										
COL20A1	57642	broad.mit.edu	37	chr20	61959791	61959791	+	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	cctggggtcccctggcacccGcagcaaggccctggttcctg	13	17	0	0			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr20:61959791G>A	ENST00000358894.6	+	34	3822	c.3722G>A	c.(3721-3723)cGc>cAc	p.R1241H	COL20A1_ENST00000326996.6_Missense_Mutation_p.R1273H|COL20A1_ENST00000435874.1_Missense_Mutation_p.R1254H|COL20A1_ENST00000422202.1_Missense_Mutation_p.R1254H	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1241					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTGGCACCCGCAGCAAGGCC	0.662																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(3760-3762)cGc>cAc		collagen, type XX, alpha 1							20	24	22					20																	61959791		1911	4108	6019	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61959791G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3722G>A	20.37:g.61959791G>A	ENSP00000351767:p.Arg1241His		Somatic				COL20A1_ENST00000435874.1_Missense_Mutation_p.R1254H|COL20A1_ENST00000358894.6_Missense_Mutation_p.R1241H|COL20A1_ENST00000326996.6_Missense_Mutation_p.R1273H	p.R1254H			WXS	Illumina GAIIx	Phase_I	Q9P218	COKA1_HUMAN			33	3829	+	all_cancers(38;1.39e-10)		1241					Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.3761G>A	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.442514	0.01089	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	D;D;D;D;D;D	0.91124	-2.13;-2.14;-2.11;-2.11;-2.79;-2.63	3.13	-6.25	0.02039	.	0.688712	0.12868	N	0.432527	T	0.68641	0.3023	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.57447	-0.7810	10	0.32370	T	0.25	.	4.7279	0.12950	0.1849:0.1327:0.5508:0.1316	.	1254;1241	Q9P218-2;Q9P218	.;COKA1_HUMAN	H	1241;1273;1254;1254;382;237	ENSP00000351767:R1241H;ENSP00000323077:R1273H;ENSP00000408690:R1254H;ENSP00000414753:R1254H;ENSP00000410799:R382H;ENSP00000406345:R237H	ENSP00000323077:R1273H	R	+	2	0	COL20A1	61430235	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-2.647000	0.00860	-2.956000	0.00291	-2.507000	0.00189	CGC		0.662	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		13	21	0	0	0	1	0	13	21					A	61959791	G	A	61959791	3	1	45	1	0	0	0	0	1	0	0	0	3681	1087	38	1	3794	1	COL20A1	20	61959791	Missense_Mutation	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08	5865927	61959791	1065729	54	4297										
KRTAP10-7	386675	broad.mit.edu	37	chr21	46021513	46021513	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	cacctgctgcgtgcccgtccCctcctgctgcgcccccacct	8	23	0	0			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr21:46021513C>A	ENST00000380102.2	+	1	1017	c.992C>A	c.(991-993)cCc>cAc	p.P331H	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	331	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GTGCCCGTCCCCTCCTGCTGC	0.721																																						ENST00000380102.2																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(991-993)cCc>cAc		keratin associated protein 10-7							43	44	44					21																	46021513		2201	4288	6489	SO:0001583	missense	386675					keratin filament		g.chr21:46021513C>A	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"Keratin associated proteins"	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.992C>A	21.37:g.46021513C>A	ENSP00000369445:p.Pro331His		Somatic				TSPEAR_ENST00000323084.4_Intron	p.P331H	NM_198689.2	NP_941962.1	WXS	Illumina GAIIx	Phase_I	P60409	KR107_HUMAN			1	1017	+			331			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.992C>A		.	.	.	.	.	.	.	.	.	.	c	4.420	0.077723	0.08485	.	.	ENSG00000205441	ENST00000380102	T	0.00730	5.77	2.71	2.71	0.32032	.	.	.	.	.	T	0.01454	0.0047	M	0.71871	2.18	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.29027	-1.0025	9	0.62326	D	0.03	.	11.1532	0.48471	0.0:1.0:0.0:0.0	.	326	P60409-2	.	H	331	ENSP00000369445:P331H	ENSP00000369445:P331H	P	+	2	0	KRTAP10-7	44845941	0.192000	0.23301	0.631000	0.29282	0.040000	0.13550	0.805000	0.27112	1.526000	0.49068	0.467000	0.42956	CCC		0.721	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		11	154	1	0	6.40141e-05	1	6.48348e-05	11	154					A	46021513	C	A	46021513	3	1	45	1	0	0	0	0	1	0	0	0	8523	623	22	5	983	5	KRTAP10-7	21	46021513	Missense_Mutation	SNP	C	TCGA-NA-A5I1-01A-21D-A28R-08		46021513	2108382	55	4298										
P2RX6	9127	broad.mit.edu	37	chr22	21377577	21377577	+	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	ctcccaggtccaatgccttgGagacctgggaccccacctat	9	16	0	1			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr22:21377577G>T	ENST00000413302.2	+	7	800	c.652G>T	c.(652-654)Gag>Tag	p.E218*	P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Nonsense_Mutation_p.E165*|P2RX6_ENST00000336296.2_Nonsense_Mutation_p.E208*|P2RX6_ENST00000401443.1_Nonsense_Mutation_p.E192*			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	218					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										CAATGCCTTGGAGACCTGGGA	0.562																																						ENST00000413302.2																			0											c.(652-654)Gag>Tag		purinergic receptor P2X, ligand-gated ion channel, 6							138	136	137					22																	21377577		2203	4300	6503	SO:0001587	stop_gained	9127				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr22:21377577G>T		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8538	protein-coding gene	gene with protein product		608077	"purinergic receptor P2X-like 1, orphan receptor"	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.652G>T	22.37:g.21377577G>T	ENSP00000416193:p.Glu218*		Somatic				P2RX6_ENST00000401443.1_Nonsense_Mutation_p.E192*|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Nonsense_Mutation_p.E165*|P2RX6_ENST00000336296.2_Nonsense_Mutation_p.E208*	p.E218*			WXS	Illumina GAIIx	Phase_I	O15547	P2RX6_HUMAN			7	800	+			218					F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Nonsense_Mutation	SNP	ENST00000413302.2	37	c.652G>T	CCDS13788.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885509	0.91814	.	.	ENSG00000099957	ENST00000413302;ENST00000336296;ENST00000401443;ENST00000443995	.	.	.	5.44	1.83	0.25207	.	1.052620	0.07458	N	0.900052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-7.2266	6.5855	0.22618	0.1704:0.0:0.6886:0.1409	.	.	.	.	X	218;208;192;165	.	ENSP00000338797:E208X	E	+	1	0	P2RX6	19707577	0.021000	0.18746	0.078000	0.20375	0.925000	0.55904	0.611000	0.24268	0.252000	0.21531	0.655000	0.94253	GAG		0.562	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319625.2	NM_005446		90	10	1	0	5.92634e-42	1	6.41343e-42	90	10					T	21377577	G	T	21377577	4	4	45	1	0	0	0	0	0	1	0	0	11353	1175	41	2	678	2	P2RX6	22	21377577	Nonsense_Mutation	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08		21377577	29926989	56	4299										
ACE2	59272	broad.mit.edu	37	chrX	15609873	15609873	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	tcatttttcaagaccacataCtcttcatataatggcctcag	4	11	5	1			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chrX:15609873C>A	ENST00000252519.3	-	4	648	c.546G>T	c.(544-546)gaG>gaT	p.E182D	ACE2_ENST00000427411.1_Missense_Mutation_p.E182D			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	182					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)	AGACCACATACTCTTCATATA	0.463																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(544-546)gaG>gaT		angiotensin I converting enzyme 2	Moexipril(DB00691)						237	221	227					X																	15609873		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:15609873C>A	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.546G>T	X.37:g.15609873C>A	ENSP00000252519:p.Glu182Asp		Somatic				ACE2_ENST00000252519.3_Missense_Mutation_p.E182D	p.E182D	NM_021804.2	NP_068576.1	WXS	Illumina GAIIx	Phase_I	Q9BYF1	ACE2_HUMAN			5	762	-	Hepatocellular(33;0.183)		182					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.546G>T	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292743	0.40594	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.34667	1.35;1.35	6.14	0.627	0.17675	.	0.341969	0.35262	N	0.003337	T	0.27663	0.0680	M	0.69463	2.115	0.27876	N	0.939875	B	0.02656	0.0	B	0.04013	0.001	T	0.13522	-1.0506	10	0.30854	T	0.27	-15.5157	2.2316	0.03998	0.123:0.364:0.1186:0.3944	.	182	Q9BYF1	ACE2_HUMAN	D	182	ENSP00000252519:E182D;ENSP00000389326:E182D	ENSP00000252519:E182D	E	-	3	2	ACE2	15519794	0.517000	0.26226	0.999000	0.59377	0.990000	0.78478	-0.426000	0.07008	0.270000	0.21984	-0.387000	0.06579	GAG		0.463	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			184	221	1	0	5.92754e-76	1	6.50383e-76	184	221					A	15609873	C	A	15609873	3	1	45	1	0	0	0	0	1	0	0	0	137	564	20	5	1931	5	ACE2	23	15609873	Missense_Mutation	SNP	C	TCGA-NA-A5I1-01A-21D-A28R-08		15609873	139660687	57	4300										
IRS4	8471	broad.mit.edu	37	chrX	107976057	107976057	+	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	cttgggctccccttactgctTcggcatcagcagcattagca	9	14	1	0			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chrX:107976057T>A	ENST00000372129.2	-	1	3594	c.3518A>T	c.(3517-3519)gAa>gTa	p.E1173V	RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1173	Ala-rich.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCTTACTGCTTCGGCATCAGC	0.637																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(3517-3519)gAa>gTa		insulin receptor substrate 4							59	64	62					X																	107976057		2200	4292	6492	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107976057T>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3518A>T	X.37:g.107976057T>A	ENSP00000361202:p.Glu1173Val		Somatic					p.E1173V	NM_003604.2	NP_003595.1	WXS	Illumina GAIIx	Phase_I	O14654	IRS4_HUMAN			1	3594	-			1173			Ala-rich.			Missense_Mutation	SNP	ENST00000372129.2	37	c.3518A>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.454751	0.26161	.	.	ENSG00000133124	ENST00000372129	T	0.37235	1.21	3.4	-0.68	0.11346	.	1.047120	0.07538	N	0.913355	T	0.19446	0.0467	N	0.19112	0.55	0.09310	N	1	B	0.24186	0.099	B	0.19946	0.027	T	0.29458	-1.0011	10	0.66056	D	0.02	0.9651	0.5435	0.00649	0.2118:0.1293:0.2149:0.4441	.	1173	O14654	IRS4_HUMAN	V	1173	ENSP00000361202:E1173V	ENSP00000361202:E1173V	E	-	2	0	IRS4	107862713	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.130000	0.15850	-0.230000	0.09840	-0.360000	0.07572	GAA		0.637	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		106	134	0	0	0	1	0	106	134					A	107976057	T	A	107976057	3	1	45	1	0	0	0	0	1	0	0	0	7851	1783	62	4	259	4	IRS4	23	107976057	Missense_Mutation	SNP	T	TCGA-NA-A5I1-01A-21D-A28R-08	92366184	107976057	47294503	58	4301										
MBNL3	55796	broad.mit.edu	37	chrX	131573526	131573526	+	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	tggcaaactcttggtggatgGgcaaacttgcaatctgcatc	11	9	2	0			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chrX:131573526G>T	ENST00000370853.3	-	1	192	c.114C>A	c.(112-114)gcC>gcA	p.A38A	MBNL3_ENST00000370844.1_5'UTR|MBNL3_ENST00000370839.3_Silent_p.A38A|MBNL3_ENST00000370857.3_Silent_p.A38A	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	38					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)					TTGGTGGATGGGCAAACTTGC	0.433																																						ENST00000370857.3																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16						c.(112-114)gcC>gcA		muscleblind-like splicing regulator 3							161	151	155					X																	131573526		2203	4300	6503	SO:0001819	synonymous_variant	55796				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding	g.chrX:131573526G>T	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.114C>A	X.37:g.131573526G>T			Somatic				MBNL3_ENST00000370844.1_5'UTR|MBNL3_ENST00000370839.3_Silent_p.A38A|MBNL3_ENST00000370853.3_Silent_p.A38A	p.A38A			WXS	Illumina GAIIx	Phase_I	Q9NUK0	MBNL3_HUMAN			1	179	-	Acute lymphoblastic leukemia(192;0.000127)		38					Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Silent	SNP	ENST00000370853.3	37	c.114C>A	CCDS14633.1																																																																																				0.433	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388		42	172	1	0	4.14481e-20	1	4.42486e-20	42	172					T	131573526	G	T	131573526	2	4	45	1	0	0	0	0	0	0	0	1	9364	1219	43	5		5	MBNL3	23	131573526	Silent	SNP	G	TCGA-NA-A5I1-01A-21D-A28R-08	23597469	131573526	23697034	59	4302										
TFDP3	51270	broad.mit.edu	37	chrX	132351648	132351648	+	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	ttgttgaagttcagactgttTctgctttattctttcaagtc	7	7	4	2			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chrX:132351648T>G	ENST00000310125.4	-	1	728	c.640A>C	c.(640-642)Aaa>Caa	p.K214Q		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	214	DCB1. {ECO:0000250}.|Involved in negatively regulating E2F activity.				cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TCAGACTGTTTCTGCTTTATT	0.458																																						ENST00000310125.4																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19						c.(640-642)Aaa>Caa		transcription factor Dp family, member 3							141	133	136					X																	132351648		2200	4299	6499	SO:0001583	missense	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351648T>G	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.640A>C	X.37:g.132351648T>G	ENSP00000385461:p.Lys214Gln		Somatic					p.K214Q	NM_016521.2	NP_057605.3	WXS	Illumina GAIIx	Phase_I	Q5H9I0	TFDP3_HUMAN			1	728	-	Acute lymphoblastic leukemia(192;0.000127)		214			DCB1 (By similarity).|Involved in negatively regulating E2F activity.		Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	c.640A>C	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	t	13.48	2.249907	0.39797	.	.	ENSG00000183434	ENST00000310125	T	0.53857	0.6	0.208	0.208	0.15221	Transcription factor DP, C-terminal (1);	.	.	.	.	T	0.70736	0.3258	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68465	-0.5401	9	0.87932	D	0	.	4.7322	0.12970	0.0:3.0E-4:0.0:0.9997	.	214	Q5H9I0	TFDP3_HUMAN	Q	214	ENSP00000385461:K214Q	ENSP00000385461:K214Q	K	-	1	0	TFDP3	132179314	1.000000	0.71417	0.021000	0.16686	0.021000	0.10359	3.478000	0.53158	0.227000	0.20999	0.225000	0.17782	AAA		0.458	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		6	120	0	0	0	1	0	6	120					G	132351648	T	G	132351648	3	3	45	1	0	0	0	0	1	0	0	0	15814	1792	62	4	581	4	TFDP3	23	132351648	Missense_Mutation	SNP	T	TCGA-NA-A5I1-01A-21D-A28R-08	778122	132351648	22918912	60	4303										
ARID1A	8289	broad.mit.edu	37	chr1	27106465	27106465	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	acaagcacccagaacggaagCaggcaccactaacttatgaa	8	12	0	2			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:27106465C>T	ENST00000324856.7	+	20	6447	c.6076C>T	c.(6076-6078)Cag>Tag	p.Q2026*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1643*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q354*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1809*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2026					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.Q2026*(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)		AGAACGGAAGCAGGCACCACT	0.542			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	1	Substitution - Nonsense(1)	p.Q2026*(1)	pancreas(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.(6076-6078)Cag>Tag		AT rich interactive domain 1A (SWI-like)							127	117	120					1																	27106465		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106465C>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.6076C>T	1.37:g.27106465C>T	ENSP00000320485:p.Gln2026*		Somatic				ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1643*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q354*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1809*	p.Q2026*	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	6447	+		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)	2026					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.6076C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.604852|10.604852	0.99436|0.99436	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.70245|.	0.3202|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.64428|.	-0.6410|.	4|.	.|0.26408	.|T	.|0.33	-6.1936|-6.1936	18.8481|18.8481	0.92215|0.92215	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	922|2026;1809;1643;354	.|.	.|ENSP00000320485:Q2026X	A|Q	+|+	2|1	0|0	ARID1A|ARID1A	26979052|26979052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.464000|7.464000	0.80887|0.80887	2.762000|2.762000	0.94881|0.94881	0.591000|0.591000	0.81541|0.81541	GCA|CAG		0.542	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		47	48	0	0	0	1	0	47	48					T	27106465	C	T	27106465	4	4	46	1	0	0	0	0	0	1	0	0	913	711	25	3	6154	3	ARID1A	1	27106465	Nonsense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08		27106465	222144156	1	4304										
LRRC7	57554	broad.mit.edu	37	chr1	70291497	70291497	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	aattattgaagccagtgtcaAtcccatttctaagtgagtat	7	7	2	2			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:70291497A>T	ENST00000035383.5	+	3	404	c.374A>T	c.(373-375)aAt>aTt	p.N125I	LRRC7_ENST00000370958.1_Missense_Mutation_p.N163I|LRRC7_ENST00000310961.5_Missense_Mutation_p.N130I|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	125						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						GCCAGTGTCAATCCCATTTCT	0.269																																						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.(388-390)aAt>aTt		leucine rich repeat containing 7							79	77	78					1																	70291497		2203	4282	6485	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70291497A>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.374A>T	1.37:g.70291497A>T	ENSP00000035383:p.Asn125Ile		Somatic				LRRC7_ENST00000035383.5_Missense_Mutation_p.N125I|LRRC7_ENST00000370958.1_Missense_Mutation_p.N163I|LRRC7_ENST00000415775.2_5'UTR	p.N130I			WXS	Illumina GAIIx	Phase_I	Q96NW7	LRRC7_HUMAN			6	807	+			125					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.389A>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243480	0.79912	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.67865	1.18;-0.29;1.23	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.85265	0.5657	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90065	0.4159	10	0.87932	D	0	.	14.6159	0.68547	1.0:0.0:0.0:0.0	.	125;163	Q96NW7;B1AKT2	LRRC7_HUMAN;.	I	130;163;125;125	ENSP00000309245:N130I;ENSP00000359997:N163I;ENSP00000035383:N125I	ENSP00000035383:N125I	N	+	2	0	LRRC7	70064085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.423000	0.90264	2.114000	0.64651	0.533000	0.62120	AAT		0.269	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		4	12	0	0	0	1	0	4	12					T	70291497	A	T	70291497	3	4	46	1	0	0	0	0	1	0	0	0	9029	101	4	4	384	4	LRRC7	1	70291497	Missense_Mutation	SNP	A	TCGA-ND-A4W6-01A-11D-A28R-08	43185032	70291497	178959124	2	4305										
RAP1A	5906	broad.mit.edu	37	chr1	112234017	112234017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gctagtggtccttggttcagGaggcgttgggaagtctgctc	16	8	2	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:112234017G>A	ENST00000369709.3	+	2	214	c.35G>A	c.(34-36)gGa>gAa	p.G12E	RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000545460.1_Missense_Mutation_p.G12E|RAP1A_ENST00000436150.2_Missense_Mutation_p.G12E|RAP1A_ENST00000356415.1_Missense_Mutation_p.G12E	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	12					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		CTTGGTTCAGGAGGCGTTGGG	0.368																																						ENST00000369709.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(34-36)gGa>gAa		RAP1A, member of RAS oncogene family							138	123	128					1																	112234017		2203	4300	6503	SO:0001583	missense	5906				activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr1:112234017G>A	BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.35G>A	1.37:g.112234017G>A	ENSP00000358723:p.Gly12Glu		Somatic				RAP1A_ENST00000436150.2_Missense_Mutation_p.G12E|RAP1A_ENST00000356415.1_Missense_Mutation_p.G12E|RAP1A_ENST00000545460.1_Missense_Mutation_p.G12E|RAP1A_ENST00000494982.1_3'UTR	p.G12E	NM_002884.2	NP_002875.1	WXS	Illumina GAIIx	Phase_I	P62834	RAP1A_HUMAN		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)	2	214	+		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)	12					P10113	Missense_Mutation	SNP	ENST00000369709.3	37	c.35G>A	CCDS840.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828961	0.90955	.	.	ENSG00000116473	ENST00000356415;ENST00000433097;ENST00000369709;ENST00000436150;ENST00000545460	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	4.72	4.72	0.59763	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88455	0.6441	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90780	0.4678	10	0.87932	D	0	.	16.8255	0.85930	0.0:0.0:1.0:0.0	.	12	P62834	RAP1A_HUMAN	E	12	ENSP00000348786:G12E;ENSP00000396741:G12E;ENSP00000358723:G12E;ENSP00000394318:G12E;ENSP00000443009:G12E	ENSP00000348786:G12E	G	+	2	0	RAP1A	112035540	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.955000	0.93058	2.315000	0.78130	0.455000	0.32223	GGA		0.368	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033071.1	NM_002884		16	13	0	0	0	1	0	16	13					A	112234017	G	A	112234017	3	1	46	1	0	0	0	0	1	0	0	0	13050	1174	41	3	37	3	RAP1A	1	112234017	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	41942520	112234017	137016604	3	4306										
HMGCS2	3158	broad.mit.edu	37	chr1	120302610	120302610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	acagaccaccatggcataacGacctgtaaagagaaacaaga	8	10	0	3			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:120302610G>A	ENST00000369406.3	-	3	611	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Intron	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	188					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		ATGGCATAACGACCTGTAAAG	0.488																																						ENST00000369406.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(562-564)Cgt>Tgt		3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)							43	43	43					1																	120302610		2203	4300	6503	SO:0001583	missense	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120302610G>A	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.562C>T	1.37:g.120302610G>A	ENSP00000358414:p.Arg188Cys		Somatic				HMGCS2_ENST00000544913.2_Intron|HMGCS2_ENST00000476640.1_5'UTR	p.R188C	NM_005518.3	NP_005509.1	WXS	Illumina GAIIx	Phase_I	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	3	611	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	188					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	c.562C>T	CCDS905.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564231	0.86335	.	.	ENSG00000134240	ENST00000369406	D	0.92199	-2.99	5.25	5.25	0.73442	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.64402	D	0.000005	D	0.97892	0.9307	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99675	1.0997	10	0.87932	D	0	-7.8982	17.4109	0.87485	0.0:0.0:1.0:0.0	.	188	P54868	HMCS2_HUMAN	C	188	ENSP00000358414:R188C	ENSP00000358414:R188C	R	-	1	0	HMGCS2	120104133	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.413000	0.97351	2.453000	0.82957	0.400000	0.26472	CGT		0.488	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		4	24	0	0	0	1	0	4	24					A	120302610	G	A	120302610	3	1	46	1	0	0	0	0	1	0	0	0	7242	1058	37	1	992	1	HMGCS2	1	120302610	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	8068593	120302610	128948011	4	4307										
ECM1	1893	broad.mit.edu	37	chr1	150485731	150485731	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	agaaattaaccttcatcaatGatctgtgtggtccccgacgt	8	10	3	2			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:150485731G>A	ENST00000369047.4	+	10	1536	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	ECM1_ENST00000369049.4_Missense_Mutation_p.D498N|ECM1_ENST00000346569.6_Missense_Mutation_p.D346N|ECM1_ENST00000470432.1_3'UTR|LINC00568_ENST00000416894.1_lincRNA	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	471					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	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;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTTCATCAATGATCTGTGTGG	0.478																																					Melanoma(156;1696 2560 11093 19685)	ENST00000369047.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22						c.(1411-1413)Gat>Aat		extracellular matrix protein 1							139	134	136					1																	150485731		2203	4300	6503	SO:0001583	missense	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150485731G>A	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1411G>A	1.37:g.150485731G>A	ENSP00000358043:p.Asp471Asn		Somatic				ECM1_ENST00000369049.4_Missense_Mutation_p.D498N|ECM1_ENST00000346569.6_Missense_Mutation_p.D346N|ECM1_ENST00000470432.1_3'UTR	p.D471N	NM_004425.3	NP_004416.2	WXS	Illumina GAIIx	Phase_I	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		10	1536	+	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)		471					A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	c.1411G>A	CCDS953.1	.	.	.	.	.	.	.	.	.	.	G	9.670	1.146454	0.21288	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.75367	-0.93;-0.93;-0.93	4.67	1.31	0.21738	.	0.907757	0.09441	N	0.801693	T	0.31734	0.0806	N	0.25647	0.755	0.09310	N	1	B;B;B	0.18310	0.027;0.027;0.003	B;B;B	0.17979	0.02;0.02;0.007	T	0.18461	-1.0336	10	0.13108	T	0.6	-0.3438	4.2306	0.10601	0.2139:0.0:0.6121:0.174	.	498;346;471	Q16610-4;Q16610-2;Q16610	.;.;ECM1_HUMAN	N	498;471;346	ENSP00000358045:D498N;ENSP00000358043:D471N;ENSP00000271630:D346N	ENSP00000271630:D346N	D	+	1	0	ECM1	148752355	0.002000	0.14202	0.006000	0.13384	0.952000	0.60782	0.210000	0.17455	0.081000	0.16988	0.563000	0.77884	GAT		0.478	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		13	74	0	0	0	1	0	13	74					A	150485731	G	A	150485731	3	1	46	1	0	0	0	0	1	0	0	0	4899	1290	45	3	1449	3	ECM1	1	150485731	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	30183121	150485731	98764890	5	4308										
TCHH	7062	broad.mit.edu	37	chr1	152080396	152080396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	attttctgtcgcgctcctggCggcgcagctgctgttcttcc	11	14	2	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:152080396C>T	ENST00000368804.1	-	2	5296	c.5297G>A	c.(5296-5298)cGc>cAc	p.R1766H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1766	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGCTCCTGGCGGCGCAGCTG	0.587																																						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.(5296-5298)cGc>cAc		trichohyalin							62	62	62					1																	152080396		1882	4105	5987	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080396C>T	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.5297G>A	1.37:g.152080396C>T	ENSP00000357794:p.Arg1766His		Somatic					p.R1766H	NM_007113.2	NP_009044.2	WXS	Illumina GAIIx	Phase_I	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5296	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1766			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5297G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207726	0.39003	.	.	ENSG00000159450	ENST00000368804	T	0.05786	3.39	3.95	0.801	0.18679	.	.	.	.	.	T	0.05547	0.0146	L	0.52573	1.65	0.09310	N	1	D	0.76494	0.999	P	0.61722	0.893	T	0.26018	-1.0115	9	0.51188	T	0.08	0.9486	5.4643	0.16634	0.3498:0.5489:0.0:0.1012	.	1766	Q07283	TRHY_HUMAN	H	1766	ENSP00000357794:R1766H	ENSP00000357794:R1766H	R	-	2	0	TCHH	150347020	0.001000	0.12720	0.003000	0.11579	0.665000	0.39181	0.178000	0.16820	-0.015000	0.14150	0.467000	0.42956	CGC		0.587	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		19	82	0	0	0	1	0	19	82					T	152080396	C	T	152080396	3	4	46	1	0	0	0	0	1	0	0	0	15715	768	27	1	538	1	TCHH	1	152080396	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	1594665	152080396	97170225	6	4309										
B4GALT3	8703	broad.mit.edu	37	chr1	161143778	161143778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ggcagtcccactcttcatcaCgcagggcctctcgcacccca	8	19	4	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:161143778C>T	ENST00000319769.5	-	5	773	c.551G>A	c.(550-552)cGt>cAt	p.R184H	B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.R184H	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	184					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	CTCTTCATCACGCAGGGCCTC	0.527																																						ENST00000319769.5																			0				cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18						c.(550-552)cGt>cAt		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	N-Acetyl-D-glucosamine(DB00141)						120	99	106					1																	161143778		2203	4300	6503	SO:0001583	missense	8703				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:161143778C>T	BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"Beta 4-glycosyltransferases"	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.551G>A	1.37:g.161143778C>T	ENSP00000320965:p.Arg184His		Somatic				B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.R184H|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron	p.R184H	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	WXS	Illumina GAIIx	Phase_I	O60512	B4GT3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		5	773	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		184					D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	ENST00000319769.5	37	c.551G>A	CCDS1222.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803576	0.70682	.	.	ENSG00000158850	ENST00000319769;ENST00000407555;ENST00000541560;ENST00000367998;ENST00000367997	T;T	0.34072	1.38;1.38	5.27	3.42	0.39159	.	0.181257	0.47852	D	0.000215	T	0.34337	0.0894	L	0.56340	1.77	0.31957	N	0.608881	D;D	0.71674	0.994;0.998	P;D	0.65773	0.86;0.938	T	0.30208	-0.9986	10	0.87932	D	0	.	6.8311	0.23911	0.0:0.6643:0.0:0.3357	.	184;184	B3KPV4;O60512	.;B4GT3_HUMAN	H	184;161;184;184;184	ENSP00000320965:R184H;ENSP00000356977:R184H	ENSP00000320965:R184H	R	-	2	0	B4GALT3	159410402	0.997000	0.39634	0.896000	0.35187	0.965000	0.64279	1.075000	0.30716	0.803000	0.34113	0.655000	0.94253	CGT		0.527	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779		40	37	0	0	0	1	0	40	37					T	161143778	C	T	161143778	3	4	46	1	0	0	0	0	1	0	0	0	1272	536	19	1	646	1	B4GALT3	1	161143778	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	9063382	161143778	88106843	7	4310										
CACNA1E	777	broad.mit.edu	37	chr1	181702803	181702803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ctcctgcatcacggccaacaCggacaaggccaccaccgaga	9	17	1	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:181702803C>T	ENST00000367573.2	+	21	3179	c.3179C>T	c.(3178-3180)aCg>aTg	p.T1060M	CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1060M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T667M|CACNA1E_ENST00000526775.1_Missense_Mutation_p.T1041M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T1041M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1011M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T992M	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1060					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						ACGGCCAACACGGACAAGGCC	0.642																																						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.(3121-3123)aCg>aTg		calcium channel, voltage-dependent, R type, alpha 1E subunit							50	57	54					1																	181702803		2201	4284	6485	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702803C>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.3179C>T	1.37:g.181702803C>T	ENSP00000356545:p.Thr1060Met		Somatic				CACNA1E_ENST00000367567.4_Missense_Mutation_p.T667M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T992M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T1041M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1011M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T1060M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1060M	p.T1041M	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			20	3287	+			1060					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3122C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266685	0.23136	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96396	-3.92;-3.92;-3.92;-3.92;-4.0;-3.92;-3.92	4.99	0.111	0.14619	.	1.142800	0.06128	N	0.670010	D	0.89473	0.6725	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.13145	0.005;0.007;0.001	B;B;B	0.09377	0.001;0.004;0.003	T	0.80647	-0.1289	10	0.39692	T	0.17	.	6.4641	0.21971	0.1335:0.5498:0.0:0.3168	.	1041;1060;1060	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	M	1060;1041;1011;992;667;1041;1060	ENSP00000356542:T1060M;ENSP00000434814:T1041M;ENSP00000350183:T1011M;ENSP00000351101:T992M;ENSP00000356539:T667M;ENSP00000353222:T1041M;ENSP00000356545:T1060M	ENSP00000350183:T1011M	T	+	2	0	CACNA1E	179969426	0.000000	0.05858	0.657000	0.29651	0.731000	0.41821	0.001000	0.13038	0.107000	0.17824	-0.397000	0.06425	ACG		0.642	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		5	15	0	0	0	1	0	5	15					T	181702803	C	T	181702803	3	4	46	1	0	0	0	0	1	0	0	0	2544	536	19	1	3261	1	CACNA1E	1	181702803	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	20559025	181702803	67547818	8	4311										
DSTYK	25778	broad.mit.edu	37	chr1	205126443	205126443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	tcacgatggacaagtccctgGctgtgcaggaagcggattcc	13	11	1	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:205126443G>A	ENST00000367162.3	-	10	2340	c.2310C>T	c.(2308-2310)agC>agT	p.S770S	DSTYK_ENST00000367161.3_Silent_p.S770S|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	770	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CAAGTCCCTGGCTGTGCAGGA	0.488																																						ENST00000367162.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(2308-2310)agC>agT		dual serine/threonine and tyrosine protein kinase							150	130	137					1																	205126443		2203	4300	6503	SO:0001819	synonymous_variant	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205126443G>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2310C>T	1.37:g.205126443G>A			Somatic				DSTYK_ENST00000367161.3_Silent_p.S770S|DSTYK_ENST00000367160.4_Intron	p.S770S	NM_015375.2	NP_056190.1	WXS	Illumina GAIIx	Phase_I	Q6XUX3	DUSTY_HUMAN			10	2340	-			770			Protein kinase.		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	ENST00000367162.3	37	c.2310C>T	CCDS1451.1																																																																																				0.488	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		22	34	0	0	0	1	0	22	34					A	205126443	G	A	205126443	2	1	46	1	0	0	0	0	0	0	0	1	4787	1194	42	3		3	DSTYK	1	205126443	Silent	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	23423640	205126443	44124178	9	4312										
DYRK3	8444	broad.mit.edu	37	chr1	206821770	206821770	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ttaacaggacagcctctcttCcctggagaggatgaaggaga	12	9	1	3	rs146045931		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:206821770C>T	ENST00000367109.2	+	3	1395	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	DYRK3_ENST00000367106.1_Silent_p.F389F|DYRK3_ENST00000367108.3_Silent_p.F389F|DYRK3_ENST00000489878.1_Intron	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	409	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AGCCTCTCTTCCCTGGAGAGG	0.488																																					Melanoma(164;427 2622 26826 51707)	ENST00000367106.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25						c.(1165-1167)ttC>ttT		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3		C	,	0,4406		0,0,2203	115	123	121		1167,1227	3.5	1	1	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DYRK3	NM_001004023.1,NM_003582.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	389/569,409/589	206821770	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206821770C>T	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"regulatory erythroid kinase", "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5", "protein kinase Dyrk3"	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1227C>T	1.37:g.206821770C>T			Somatic				DYRK3_ENST00000367109.2_Silent_p.F409F|DYRK3_ENST00000367108.3_Silent_p.F389F|DYRK3_ENST00000489878.1_Intron	p.F389F			WXS	Illumina GAIIx	Phase_I	O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	1640	+	Breast(84;0.183)		409			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Silent	SNP	ENST00000367109.2	37	c.1167C>T	CCDS30999.1																																																																																				0.488	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		46	121	0	0	0	1	0	46	121					T	206821770	C	T	206821770	2	4	46	1	0	0	0	0	0	0	0	1	4859	854	30	3		3	DYRK3	1	206821770	Silent	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	1695327	206821770	42428851	10	4313										
ITPKB	3707	broad.mit.edu	37	chr1	226923851	226923851	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	cactctgtcggagagctgccAacgccccccgcccacggggg	13	18	1	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:226923851A>T	ENST00000272117.3	-	1	1308	c.1309T>A	c.(1309-1311)Tgg>Agg	p.W437R	ITPKB_ENST00000429204.1_Missense_Mutation_p.W437R|ITPKB_ENST00000366784.1_Missense_Mutation_p.W437R			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	437					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)				GAGAGCTGCCAACGCCCCCCG	0.706																																					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.(1309-1311)Tgg>Agg		inositol-trisphosphate 3-kinase B							16	20	18					1																	226923851		2138	4260	6398	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226923851A>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.1309T>A	1.37:g.226923851A>T	ENSP00000272117:p.Trp437Arg		Somatic				ITPKB_ENST00000366784.1_Missense_Mutation_p.W437R|ITPKB_ENST00000272117.3_Missense_Mutation_p.W437R	p.W437R	NM_002221.3	NP_002212.3	WXS	Illumina GAIIx	Phase_I	P27987	IP3KB_HUMAN			2	1636	-		Prostate(94;0.0773)	437					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.1309T>A	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	A	1.823	-0.471762	0.04445	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.20738	2.06;2.06;2.05	4.73	1.55	0.23275	.	1.710450	0.03016	N	0.150041	T	0.10594	0.0259	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24297	-1.0164	10	0.07482	T	0.82	1.1582	2.4498	0.04515	0.1029:0.159:0.4786:0.2596	.	437	P27987	IP3KB_HUMAN	R	437	ENSP00000272117:W437R;ENSP00000411152:W437R;ENSP00000355748:W437R	ENSP00000272117:W437R	W	-	1	0	ITPKB	224990474	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	0.425000	0.21346	0.678000	0.31325	-0.415000	0.06103	TGG		0.706	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		5	46	0	0	0	1	0	5	46					T	226923851	A	T	226923851	3	4	46	1	0	0	0	0	1	0	0	0	7927	130	5	4	1559	4	ITPKB	1	226923851	Missense_Mutation	SNP	A	TCGA-ND-A4W6-01A-11D-A28R-08	20102081	226923851	22326770	11	4314										
OBSCN	84033	broad.mit.edu	37	chr1	228481947	228481947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gagctgagcaaggcggcaccGgtggagtggaggaaggggca	21	7	0	1	rs368849874		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:228481947G>A	ENST00000422127.1	+	42	11270	c.11226G>A	c.(11224-11226)ccG>ccA	p.P3742P	OBSCN_ENST00000359599.6_Silent_p.P2589P|OBSCN_ENST00000366707.4_Silent_p.P861P|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Silent_p.P3742P|OBSCN_ENST00000570156.2_Silent_p.P4171P|OBSCN_ENST00000366709.4_Silent_p.P861P	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)				AGGCGGCACCGGTGGAGTGGA	0.627													G|||	1	0.000199681	8e-04	0	5008	,	,		21085	0		0	False		,,,				2504	0					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>ccA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	,	3,4263		0,3,2130	145	151	149		11226,11226	-3.1	0.9	1		149	0,8462		0,0,4231	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,3,6361	AA,AG,GG		0.0,0.0703,0.0236	,	3742/7969,3742/6621	228481947	3,12725	2133	4231	6364	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.chr1:228481947G>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.11226G>A	1.37:g.228481947G>A			Somatic				OBSCN_ENST00000422127.1_Silent_p.P3742P|OBSCN_ENST00000366709.4_Silent_p.P861P|OBSCN_ENST00000284548.11_Silent_p.P3742P|OBSCN_ENST00000359599.6_Silent_p.P2589P|OBSCN_ENST00000366707.4_Silent_p.P861P	p.P4171P	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			47	12587	+		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	Silent	SNP	ENST00000422127.1	37	c.12513G>A	CCDS58065.1																																																																																				0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		38	152	0	0	0	1	0	38	152					A	228481947	G	A	228481947	2	1	46	1	0	0	0	0	0	0	0	1	10821	1103	39	1		1	OBSCN	1	228481947	Silent	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	1558096	228481947	20768674	12	4315										
C1orf96	126731	broad.mit.edu	37	chr1	229461116	229461116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	agcaaccagtttccttttttCcacctgtcttctgttcttgg	6	12	3	0	rs559873142		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:229461116C>T	ENST00000366687.1	-	3	730	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	CCSAP_ENST00000366686.1_Missense_Mutation_p.E113K|RP4-803J11.2_ENST00000418348.1_RNA|CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000284617.2_Missense_Mutation_p.E227K			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein	227					multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)											TTCCTTTTTTCCACCTGTCTT	0.423													C|||	1	0.000199681	0	0.0014	5008	,	,		20693	0		0	False		,,,				2504	0					ENST00000284617.2																			0											c.(679-681)Gaa>Aaa		centriole, cilia and spindle-associated protein							145	129	135					1																	229461116		2203	4300	6503	SO:0001583	missense	126731							g.chr1:229461116C>T	BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"centriole and spindle-associated protein"		"chromosome 1 open reading frame 96"	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.679G>A	1.37:g.229461116C>T	ENSP00000355648:p.Glu227Lys		Somatic				CCSAP_ENST00000366686.1_Missense_Mutation_p.E113K|CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000366687.1_Missense_Mutation_p.E227K	p.E227K	NM_145257.3	NP_660300.3	WXS	Illumina GAIIx	Phase_I					4	803	-								A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	Missense_Mutation	SNP	ENST00000366687.1	37	c.679G>A	CCDS1577.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554368	0.86231	.	.	ENSG00000154429	ENST00000366687;ENST00000284617;ENST00000366686	T;T;T	0.50548	0.74;0.74;0.75	5.4	5.4	0.78164	.	0.050957	0.85682	D	0.000000	T	0.66416	0.2787	L	0.58669	1.825	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.68153	-0.5484	10	0.87932	D	0	-12.3043	17.7218	0.88353	0.0:1.0:0.0:0.0	.	227	Q6IQ19	CA096_HUMAN	K	227;227;113	ENSP00000355648:E227K;ENSP00000284617:E227K;ENSP00000355647:E113K	ENSP00000284617:E227K	E	-	1	0	C1orf96	227527739	1.000000	0.71417	0.994000	0.49952	0.474000	0.32979	5.905000	0.69893	2.683000	0.91414	0.650000	0.86243	GAA		0.423	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091839.1	NM_145257		16	33	0	0	0	1	0	16	33					T	229461116	C	T	229461116	3	4	46	1	0	0	0	0	1	0	0	0	2075	864	30	3	137	3	C1orf96	1	229461116	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	979169	229461116	19789505	13	4316										
APOB	338	broad.mit.edu	37	chr2	21229150	21229150	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ttggaagtgccctgcagcttCactgaagaccgtgtgctctt	11	11	2	2			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr2:21229150C>A	ENST00000233242.1	-	26	10717	c.10590G>T	c.(10588-10590)gtG>gtT	p.V3530V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3530					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)					CCTGCAGCTTCACTGAAGACC	0.443																																						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.(10588-10590)gtG>gtT		apolipoprotein B	Atorvastatin(DB01076)						124	129	127					2																	21229150		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.chr2:21229150C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10590G>T	2.37:g.21229150C>A			Somatic					p.V3530V	NM_000384.2	NP_000375.2	WXS	Illumina GAIIx	Phase_I	P04114	APOB_HUMAN			26	10717	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3530					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.10590G>T	CCDS1703.1																																																																																				0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			67	68	1	0	3.13743e-37	1	3.52273e-37	67	68					A	21229150	C	A	21229150	2	1	46	1	0	0	0	0	0	0	0	1	785	813	29	2		2	APOB	2	21229150	Silent	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08		21229150	221970223	14	4317										
NRXN1	9378	broad.mit.edu	37	chr2	51254756	51254756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	cgccctcgccctcctcgcccGcctcgcacgggcttcccccg	9	25	0	0	rs546508545		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr2:51254756G>A	ENST00000406316.2	-	2	2132	c.656C>T	c.(655-657)gCg>gTg	p.A219V	NRXN1_ENST00000402717.3_Missense_Mutation_p.A219V|NRXN1_ENST00000404971.1_Missense_Mutation_p.A219V|NRXN1_ENST00000406859.3_Missense_Mutation_p.A219V|NRXN1_ENST00000405581.1_Missense_Mutation_p.A219V|NRXN1_ENST00000401669.2_Missense_Mutation_p.A219V|NRXN1_ENST00000405472.3_Missense_Mutation_p.A219V	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	219	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCCTCGCCCGCCTCGCACGG	0.716																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(655-657)gCg>gTg		neurexin 1							11	16	14					2																	51254756		2075	4153	6228	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51254756G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.656C>T	2.37:g.51254756G>A	ENSP00000384311:p.Ala219Val		Somatic				NRXN1_ENST00000406316.2_Missense_Mutation_p.A219V|NRXN1_ENST00000402717.3_Missense_Mutation_p.A219V|NRXN1_ENST00000401669.2_Missense_Mutation_p.A219V|NRXN1_ENST00000406859.3_Missense_Mutation_p.A219V|NRXN1_ENST00000405581.1_Missense_Mutation_p.A219V|NRXN1_ENST00000405472.3_Missense_Mutation_p.A219V	p.A219V	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)		2	1995	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	219			EGF-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.656C>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881260	0.33255	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.70631	0.16;0.2;-0.5;-0.38;-0.1;0.07;3.42	5.5	2.25	0.28309	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.53738	0.1815	L	0.38175	1.15	0.30653	N	0.755187	B;B;B	0.19073	0.0;0.026;0.033	B;B;B	0.16722	0.001;0.016;0.001	T	0.48980	-0.8986	9	0.29301	T	0.29	.	2.7281	0.05219	0.1045:0.2055:0.5098:0.1801	.	219;219;219	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	V	219	ENSP00000385142:A219V;ENSP00000384311:A219V;ENSP00000434015:A219V;ENSP00000385017:A219V;ENSP00000385434:A219V;ENSP00000385681:A219V;ENSP00000385310:A219V	ENSP00000385017:A219V	A	-	2	0	NRXN1	51108260	0.841000	0.29509	1.000000	0.80357	0.960000	0.62799	0.812000	0.27211	1.268000	0.44264	0.563000	0.77884	GCG		0.716	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			5	15	0	0	0	1	0	5	15					A	51254756	G	A	51254756	3	1	46	1	0	0	0	0	1	0	0	0	10674	1087	38	1	4342	1	NRXN1	2	51254756	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	30025606	51254756	191944617	15	4318										
SLC39A10	57181	broad.mit.edu	37	chr2	196573523	196573523	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ggcatttacttgctatttatCattgaacactgcattagaat	6	7	1	2			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr2:196573523C>T	ENST00000409086.3	+	5	1805	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	SLC39A10_ENST00000359634.5_Silent_p.I510I|SLC39A10_ENST00000541054.1_Silent_p.I60I	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	510					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)			TGCTATTTATCATTGAACACT	0.284																																						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.(1528-1530)atC>atT		solute carrier family 39 (zinc transporter), member 10							103	95	97					2																	196573523		2203	4300	6503	SO:0001819	synonymous_variant	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196573523C>T		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"Solute carriers"	20861	protein-coding gene	gene with protein product		608733	"solute carrier family 39 (metal ion transporter), member 10"			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1530C>T	2.37:g.196573523C>T			Somatic				SLC39A10_ENST00000359634.5_Silent_p.I510I|SLC39A10_ENST00000541054.1_Silent_p.I60I	p.I510I	NM_001127257.1	NP_001120729.1	WXS	Illumina GAIIx	Phase_I	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		5	1805	+			510					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Silent	SNP	ENST00000409086.3	37	c.1530C>T	CCDS33353.1																																																																																				0.284	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		17	41	0	0	0	1	0	17	41					T	196573523	C	T	196573523	2	4	46	1	0	0	0	0	0	0	0	1	14628	816	29	3		3	SLC39A10	2	196573523	Silent	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	145318767	196573523	46625850	16	4319										
ZNF167	55888	broad.mit.edu	37	chr3	44612304	44612304	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gtcggagtaaatgtcttattCgacatcagagcctccatact	8	10	2	1	rs200003223		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:44612304C>T	ENST00000273320.3	+	6	2131	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	ZKSCAN7_ENST00000426540.1_Nonsense_Mutation_p.R568*|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000431636.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	568					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.R568*(1)									ATGTCTTATTCGACATCAGAG	0.433																																						ENST00000273320.3																			1	Substitution - Nonsense(1)	p.R568*(1)	large_intestine(1)								c.(1702-1704)Cga>Tga		zinc finger with KRAB and SCAN domains 7		C	stop/ARG,	0,4406		0,0,2203	90	91	90		1702,	3.3	1	3		90	1,8599		0,1,4299	no	stop-gained,intron	ZNF167	NM_018651.2,NM_025169.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	568/755,	44612304	1,13005	2203	4300	6503	SO:0001587	stop_gained	55888							g.chr3:44612304C>T	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.1702C>T	3.37:g.44612304C>T	ENSP00000273320:p.Arg568*		Somatic				ZKSCAN7_ENST00000426540.1_Nonsense_Mutation_p.R568*|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron	p.R568*	NM_018651.2	NP_061121.2	WXS	Illumina GAIIx	Phase_I					6	2131	+								A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Nonsense_Mutation	SNP	ENST00000273320.3	37	c.1702C>T	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	38	7.137541	0.98088	0.0	1.16E-4	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	.	.	.	4.21	3.29	0.37713	.	0.348037	0.16505	N	0.211495	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-4.0189	10.3669	0.44030	0.3844:0.6156:0.0:0.0	.	.	.	.	X	568;568;6	.	ENSP00000273320:R568X	R	+	1	2	ZNF167	44587308	0.000000	0.05858	1.000000	0.80357	0.895000	0.52256	-0.426000	0.07008	2.189000	0.69895	0.655000	0.94253	CGA		0.433	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		47	44	0	0	0	1	0	47	44					T	44612304	C	T	44612304	4	4	46	1	0	0	0	0	0	1	0	0	17756	876	31	1	1720	1	ZNF167	3	44612304	Nonsense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08		44612304	153410126	17	4320										
USP19	10869	broad.mit.edu	37	chr3	49154288	49154288	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	cgggaggcactgctttctctCctgccaaaggggctaaattc	11	12	1	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:49154288C>G	ENST00000398888.2	-	6	1013	c.695G>C	c.(694-696)gGa>gCa	p.G232A	USP19_ENST00000398892.3_Missense_Mutation_p.G270A|USP19_ENST00000417901.1_Missense_Mutation_p.G333A|USP19_ENST00000434032.2_Missense_Mutation_p.G333A|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000453664.1_Missense_Mutation_p.G323A|USP19_ENST00000398898.2_Missense_Mutation_p.G270A|USP19_ENST00000398896.1_Missense_Mutation_p.G38A	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	232					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCTTTCTCTCCTGCCAAAGG	0.552																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(967-969)gGa>gCa		ubiquitin specific peptidase 19							56	61	60					3																	49154288		2027	4190	6217	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49154288C>G	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.695G>C	3.37:g.49154288C>G	ENSP00000381863:p.Gly232Ala		Somatic				USP19_ENST00000417901.1_Missense_Mutation_p.G333A|USP19_ENST00000434032.2_Missense_Mutation_p.G333A|USP19_ENST00000398888.2_Missense_Mutation_p.G232A|USP19_ENST00000398896.1_Missense_Mutation_p.G38A|USP19_ENST00000398898.2_Missense_Mutation_p.G270A|USP19_ENST00000398892.3_Missense_Mutation_p.G270A	p.G323A	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	WXS	Illumina GAIIx	Phase_I	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	7	1286	-			232			CS 2.		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.968G>C	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580499	0.28180	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026;ENST00000425298;ENST00000479073	T;T;T;T;T;T;T;T	0.30714	2.12;2.17;2.27;2.3;2.17;2.28;2.27;1.52	5.72	1.55	0.23275	Domain of unknown function DUF1872 (1);HSP20-like chaperone (1);	1.057580	0.07243	N	0.864602	T	0.17534	0.0421	N	0.22421	0.69	0.33186	D	0.550233	B;B;B;B;B;B	0.31209	0.309;0.243;0.201;0.004;0.313;0.0	B;B;B;B;B;B	0.35931	0.197;0.171;0.13;0.004;0.214;0.001	T	0.40459	-0.9562	10	0.07030	T	0.85	-1.631	2.2675	0.04082	0.2786:0.445:0.128:0.1484	.	396;333;323;232;318;38	A5PKX8;E9PEG8;E7EN22;O94966;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.	A	38;270;333;323;270;232;333;318;318;80	ENSP00000381870:G38A;ENSP00000381872:G270A;ENSP00000395260:G333A;ENSP00000400090:G323A;ENSP00000381867:G270A;ENSP00000381863:G232A;ENSP00000401197:G333A;ENSP00000303503:G318A	ENSP00000303503:G318A	G	-	2	0	USP19	49129292	0.254000	0.23992	0.998000	0.56505	0.797000	0.45037	0.380000	0.20602	0.387000	0.25024	0.650000	0.86243	GGA		0.552	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		6	42	0	0	0	1	0	6	42					G	49154288	C	G	49154288	3	3	46	1	0	0	0	0	1	0	0	0	17065	855	30	2	3345	2	USP19	3	49154288	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	4541984	49154288	148868142	18	4321										
BSN	8927	broad.mit.edu	37	chr3	49662661	49662661	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	catcaccctactccgtccctCagatcgccccccttcccagc	4	23	2	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:49662661C>G	ENST00000296452.4	+	2	592	c.478C>G	c.(478-480)Cag>Gag	p.Q160E		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	160					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)		CTCCGTCCCTCAGATCGCCCC	0.627																																						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.(478-480)Cag>Gag		bassoon presynaptic cytomatrix protein							159	133	142					3																	49662661		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49662661C>G	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.478C>G	3.37:g.49662661C>G	ENSP00000296452:p.Gln160Glu		Somatic					p.Q160E	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)	2	592	+			160					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.478C>G	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123504	0.56613	.	.	ENSG00000164061	ENST00000296452	T	0.19806	2.12	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	L	0.43923	1.385	0.42698	D	0.993602	D	0.55605	0.972	P	0.54544	0.755	T	0.02301	-1.1180	10	0.02654	T	1	.	19.0474	0.93027	0.0:1.0:0.0:0.0	.	160	Q9UPA5	BSN_HUMAN	E	160	ENSP00000296452:Q160E	ENSP00000296452:Q160E	Q	+	1	0	BSN	49637665	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.738000	0.68613	2.514000	0.84764	0.462000	0.41574	CAG		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		48	39	0	0	0	1	0	48	39					G	49662661	C	G	49662661	3	3	46	1	0	0	0	0	1	0	0	0	1532	827	29	2	484	2	BSN	3	49662661	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	508373	49662661	148359769	19	4322										
PIK3CA	5290	broad.mit.edu	37	chr3	178937422	178937422	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	aggctatggaacttctggacTgtaattacccagatcctatg	9	9	1	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:178937422T>C	ENST00000263967.3	+	12	1967	c.1810T>C	c.(1810-1812)Tgt>Cgt	p.C604R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	604	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.C604R(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)	ACTTCTGGACTGTAATTACCC	0.368		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.C604R(2)	endometrium(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.(1810-1812)Tgt>Cgt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							64	59	60					3																	178937422		1815	4069	5884	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.chr3:178937422T>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.1810T>C	3.37:g.178937422T>C	ENSP00000263967:p.Cys604Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.C604R	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)		12	1967	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		604			PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1810T>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671537	0.88348	.	.	ENSG00000121879	ENST00000263967	T	0.63580	-0.05	5.97	5.97	0.96955	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.046220	0.85682	D	0.000000	T	0.66896	0.2836	L	0.46157	1.445	0.80722	D	1	P	0.43633	0.813	P	0.51055	0.657	T	0.62900	-0.6756	10	0.28530	T	0.3	-1.0E-4	16.4534	0.84003	0.0:0.0:0.0:1.0	.	604	P42336	PK3CA_HUMAN	R	604	ENSP00000263967:C604R	ENSP00000263967:C604R	C	+	1	0	PIK3CA	180420116	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.285000	0.76669	0.477000	0.44152	TGT		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			7	16	0	0	0	1	0	7	16					C	178937422	T	C	178937422	3	2	46	1	0	0	0	0	1	0	0	0	11922	1580	55	4	1852	4	PIK3CA	3	178937422	Missense_Mutation	SNP	T	TCGA-ND-A4W6-01A-11D-A28R-08	129274761	178937422	19085008	20	4323										
MFN1	55669	broad.mit.edu	37	chr3	179095162	179095162	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	caatgacagatgaaatttgtCgactgtctgttttggttgat	10	5	1	4			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:179095162C>T	ENST00000471841.1	+	12	1381	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	MFN1_ENST00000263969.5_Nonsense_Mutation_p.R419*|MFN1_ENST00000280653.7_Nonsense_Mutation_p.R419*	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	419					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)			TGAAATTTGTCGACTGTCTGT	0.234																																						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.(1255-1257)Cga>Tga		mitofusin 1							83	86	85					3																	179095162		2203	4296	6499	SO:0001587	stop_gained	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179095162C>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.1255C>T	3.37:g.179095162C>T	ENSP00000420617:p.Arg419*		Somatic				MFN1_ENST00000280653.7_Nonsense_Mutation_p.R419*|MFN1_ENST00000263969.5_Nonsense_Mutation_p.R419*	p.R419*	NM_033540.2	NP_284941.2	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)		12	1381	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		419					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Nonsense_Mutation	SNP	ENST00000471841.1	37	c.1255C>T	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321340	0.95682	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000474903	.	.	.	5.49	5.49	0.81192	.	0.054127	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5651	19.3515	0.94389	0.0:1.0:0.0:0.0	.	.	.	.	X	419;419;419;419;282	.	ENSP00000263969:R419X	R	+	1	2	MFN1	180577856	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.437000	0.44828	2.576000	0.86940	0.591000	0.81541	CGA		0.234	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		8	49	0	0	0	1	0	8	49					T	179095162	C	T	179095162	4	4	46	1	0	0	0	0	0	1	0	0	9532	876	31	1	1297	1	MFN1	3	179095162	Nonsense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	157740	179095162	18927268	21	4324										
EPHA5	2044	broad.mit.edu	37	chr4	66361138	66361138	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ttgtgggtggatcagactctCtcctgaaataatccttttca	8	9	3	2			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr4:66361138C>T	ENST00000273854.3	-	4	1634	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K	EPHA5_ENST00000511294.1_Missense_Mutation_p.R345K|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.R345K	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	345	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATCAGACTCTCTCCTGAAATA	0.473										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1033-1035)aGa>aAa		EPH receptor A5							173	168	170					4																	66361138		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.chr4:66361138C>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.1034G>A	4.37:g.66361138C>T	ENSP00000273854:p.Arg345Lys	TSP Lung(17;0.13)	Somatic				EPHA5_ENST00000511294.1_Missense_Mutation_p.R345K|EPHA5_ENST00000354839.4_Missense_Mutation_p.R345K|EPHA5_ENST00000432638.2_Intron	p.R345K	NM_004439.5	NP_004430.4	WXS	Illumina GAIIx	Phase_I	P54756	EPHA5_HUMAN			4	1634	-			345			Cys-rich.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1034G>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718477	0.48622	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.71341	1.6;1.6;-0.56	5.84	4.99	0.66335	.	0.098802	0.44097	N	0.000487	T	0.55016	0.1894	N	0.16368	0.405	0.23304	N	0.997944	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	0.53034	-0.8495	10	0.72032	D	0.01	.	11.6893	0.51505	0.0:0.8121:0.0:0.1879	.	345;345;345;345	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	K	345	ENSP00000273854:R345K;ENSP00000346899:R345K;ENSP00000427638:R345K	ENSP00000273854:R345K	R	-	2	0	EPHA5	66043733	0.945000	0.32115	1.000000	0.80357	0.991000	0.79684	0.420000	0.21263	1.449000	0.47699	0.460000	0.39030	AGA		0.473	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		30	83	0	0	0	1	0	30	83					T	66361138	C	T	66361138	3	4	46	1	0	0	0	0	1	0	0	0	5172	913	32	3	2139	3	EPHA5	4	66361138	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08		66361138	124793138	22	4325										
C4orf35	85438	broad.mit.edu	37	chr4	71201489	71201489	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	aaataaccgaaattgacctaAgtgttttagaagatgacacc	7	7	0	4			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr4:71201489A>C	ENST00000273936.5	+	1	807	c.733A>C	c.(733-735)Agt>Cgt	p.S245R		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	245					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AATTGACCTAAGTGTTTTAGA	0.408																																						ENST00000273936.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(733-735)Agt>Cgt		calcium-binding protein, spermatid-specific 1							107	106	107					4																	71201489		2203	4300	6503	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71201489A>C	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.733A>C	4.37:g.71201489A>C	ENSP00000273936:p.Ser245Arg		Somatic					p.S245R	NM_033122.3	NP_149113.3	WXS	Illumina GAIIx	Phase_I	Q96KC9	CABS1_HUMAN			1	792	+			245					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.733A>C	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	A	5.052	0.195315	0.09599	.	.	ENSG00000145309	ENST00000273936	T	0.22539	1.95	4.57	0.796	0.18648	.	0.933444	0.08866	N	0.882197	T	0.13030	0.0316	N	0.24115	0.695	0.09310	N	1	P	0.43094	0.799	B	0.39258	0.295	T	0.20840	-1.0263	10	0.38643	T	0.18	-32.5422	6.3643	0.21445	0.7017:0.0:0.2983:0.0	.	245	Q96KC9	CABS1_HUMAN	R	245	ENSP00000273936:S245R	ENSP00000273936:S245R	S	+	1	0	CABS1	71236078	0.002000	0.14202	0.010000	0.14722	0.029000	0.11900	0.132000	0.15891	0.062000	0.16340	0.533000	0.62120	AGT		0.408	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		6	54	0	0	0	1	0	6	54					C	71201489	A	C	71201489	3	2	46	1	0	0	0	0	1	0	0	0	2267	72	3	4	735	4	C4orf35	4	71201489	Missense_Mutation	SNP	A	TCGA-ND-A4W6-01A-11D-A28R-08	4840351	71201489	119952787	23	4326										
RASGEF1B	153020	broad.mit.edu	37	chr4	82348927	82348927	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ggcagctcccatgtgttaaaCtctgcctaagaggctcgacc	10	13	1	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr4:82348927C>G	ENST00000264400.2	-	14	1568	c.1417G>C	c.(1417-1419)Gtt>Ctt	p.V473L	RASGEF1B_ENST00000509081.1_Missense_Mutation_p.V472L|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.V431L	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	473					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						ATGTGTTAAACTCTGCCTAAG	0.468																																						ENST00000509081.1																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(1414-1416)Gtt>Ctt		RasGEF domain family, member 1B							92	86	88					4																	82348927		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.chr4:82348927C>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.1417G>C	4.37:g.82348927C>G	ENSP00000264400:p.Val473Leu		Somatic				RASGEF1B_ENST00000264400.2_Missense_Mutation_p.V473L|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.V431L	p.V472L			WXS	Illumina GAIIx	Phase_I	Q0VAM2	RGF1B_HUMAN			14	1635	-			473					Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.1414G>C	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	9.222	1.033712	0.19590	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927	T;T;T	0.76709	-0.62;-0.62;-1.04	4.83	3.97	0.46021	.	0.423635	0.25756	N	0.028504	T	0.58148	0.2102	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.001	T	0.59080	-0.7521	10	0.66056	D	0.02	.	10.5909	0.45308	0.0:0.906:0.0:0.094	.	431;472;473	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	L	472;473;431	ENSP00000425393:V472L;ENSP00000264400:V473L;ENSP00000338437:V431L	ENSP00000264400:V473L	V	-	1	0	RASGEF1B	82567951	1.000000	0.71417	1.000000	0.80357	0.283000	0.27025	2.924000	0.48876	2.665000	0.90641	0.585000	0.79938	GTT		0.468	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		5	21	0	0	0	1	0	5	21					G	82348927	C	G	82348927	3	3	46	1	0	0	0	0	1	0	0	0	13085	565	20	5	8	5	RASGEF1B	4	82348927	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	11147438	82348927	108805349	24	4327										
CYP2U1	113612	broad.mit.edu	37	chr4	108866752	108866752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	tgtatatgtcgctgaaccccGatgtacaaggtaattaatag	9	7	0	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr4:108866752G>A	ENST00000332884.6	+	2	1392	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	CYP2U1_ENST00000508453.1_Missense_Mutation_p.D164N|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	373					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GCTGAACCCCGATGTACAAGG	0.408																																						ENST00000332884.6																			0				breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10						c.(1117-1119)Gat>Aat		cytochrome P450, family 2, subfamily U, polypeptide 1							130	127	128					4																	108866752		2203	4300	6503	SO:0001583	missense	113612				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr4:108866752G>A	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"Cytochrome P450s"	20582	protein-coding gene	gene with protein product	"spastic paraplegia 49"	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.1117G>A	4.37:g.108866752G>A	ENSP00000333212:p.Asp373Asn		Somatic				RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.D164N	p.D373N	NM_183075.2	NP_898898.1	WXS	Illumina GAIIx	Phase_I	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	2	1392	+		Hepatocellular(203;0.217)	373					B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	c.1117G>A	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	G	5.897	0.349638	0.11182	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.80824	-1.42;-1.42	5.83	2.19	0.27852	.	0.338972	0.36409	N	0.002618	T	0.74129	0.3676	L	0.52011	1.625	0.20489	N	0.999896	B	0.26708	0.157	B	0.33196	0.159	T	0.64850	-0.6310	10	0.54805	T	0.06	.	7.1256	0.25469	0.1942:0.227:0.5788:0.0	.	373	Q7Z449	CP2U1_HUMAN	N	373;330;164	ENSP00000333212:D373N;ENSP00000423667:D164N	ENSP00000333212:D373N	D	+	1	0	CYP2U1	109086201	1.000000	0.71417	0.000000	0.03702	0.003000	0.03518	3.731000	0.55013	0.097000	0.17492	-1.075000	0.02238	GAT		0.408	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		9	61	0	0	0	1	0	9	61					A	108866752	G	A	108866752	3	1	46	1	0	0	0	0	1	0	0	0	4177	1058	37	1	1123	1	CYP2U1	4	108866752	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	26517825	108866752	82287524	25	4328										
YTHDC2	64848	broad.mit.edu	37	chr5	112876758	112876758	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gcagagaactgttctaaatgTgactgatgagtatgacttac	10	6	1	5			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:112876758T>C	ENST00000161863.4	+	9	1517	c.1304T>C	c.(1303-1305)gTg>gCg	p.V435A	YTHDC2_ENST00000515883.1_Missense_Mutation_p.V435A	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	435					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)		GTTCTAAATGTGACTGATGAG	0.403																																						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.(1303-1305)gTg>gCg		YTH domain containing 2							204	187	193					5																	112876758		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112876758T>C	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1304T>C	5.37:g.112876758T>C	ENSP00000161863:p.Val435Ala		Somatic				YTHDC2_ENST00000515883.1_Missense_Mutation_p.V435A	p.V435A	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)	9	1517	+		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)	435					B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.1304T>C	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.510652	0.44660	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.06528	4.3;3.29	5.39	5.39	0.77823	.	0.159967	0.44483	D	0.000451	T	0.05686	0.0149	L	0.38175	1.15	0.36555	D	0.872073	B	0.22080	0.064	B	0.18263	0.021	T	0.30851	-0.9964	10	0.11485	T	0.65	.	11.3547	0.49609	0.0:0.0732:0.0:0.9268	.	435	Q9H6S0	YTDC2_HUMAN	A	435;435;345	ENSP00000161863:V435A;ENSP00000423101:V435A	ENSP00000161863:V435A	V	+	2	0	YTHDC2	112904657	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	4.578000	0.60929	2.038000	0.60285	0.533000	0.62120	GTG		0.403	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		7	59	0	0	0	1	0	7	59					C	112876758	T	C	112876758	3	2	46	1	0	0	0	0	1	0	0	0	17512	1696	59	4	1338	4	YTHDC2	5	112876758	Missense_Mutation	SNP	T	TCGA-ND-A4W6-01A-11D-A28R-08		112876758	68038502	26	4329										
PCDHB5	26167	broad.mit.edu	37	chr5	140516678	140516678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gtgctggtgctggacgccaaCgacaactcgcccttcgtgct	12	14	0	0	rs368703808	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:140516678C>T	ENST00000231134.5	+	1	1879	c.1662C>T	c.(1660-1662)aaC>aaT	p.N554N		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	554	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGCCAACGACAACTCGC	0.716													C|||	2	0.000399361	0.0015	0	5008	,	,		15384	0		0	False		,,,				2504	0					ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1660-1662)aaC>aaT				C		0,4398		0,0,2199	29	33	32		1662	-0.3	1	5		32	1,8585		0,1,4292	no	coding-synonymous	PCDHB5	NM_015669.2		0,1,6491	TT,TC,CC		0.0116,0.0,0.0077		554/796	140516678	1,12983	2199	4293	6492	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516678C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1662C>T	5.37:g.140516678C>T			Somatic					p.N554N	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	1879	+			554			Cadherin 5.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1662C>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	3.029	-0.200035	0.06219	0.0	1.16E-4	ENSG00000113209	ENST00000537936	.	.	.	4.42	-0.331	0.12679	.	.	.	.	.	T	0.63698	0.2533	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65689	-0.6107	5	0.87932	D	0	.	10.0143	0.42006	0.0:0.4686:0.0:0.5314	.	.	.	.	M	338	.	ENSP00000446220:T338M	T	+	2	0	PCDHB5	140496862	0.006000	0.16342	0.999000	0.59377	0.627000	0.37826	-1.140000	0.03210	0.081000	0.16988	0.194000	0.17425	ACG		0.716	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		8	147	0	0	0	1	0	8	147					T	140516678	C	T	140516678	2	4	46	1	0	0	0	0	0	0	0	1	11554	535	19	1		1	PCDHB5	5	140516678	Silent	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	27639920	140516678	40398582	27	4330										
PCDHGA2	56113	broad.mit.edu	37	chr5	140719629	140719629	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	tgaagactctcttccaggaaCcataattgggctttttaatg	8	8	1	2			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:140719629C>T	ENST00000394576.2	+	1	1091	c.1091C>T	c.(1090-1092)aCc>aTc	p.T364I	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	364	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(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)			CTTCCAGGAACCATAATTGGG	0.438																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1090-1092)aCc>aTc									81	84	83					5																	140719629		2203	4300	6503	SO:0001583	missense	0							g.chr5:140719629C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1091C>T	5.37:g.140719629C>T	ENSP00000378077:p.Thr364Ile		Somatic				PCDHGA1_ENST00000517417.1_Intron	p.T364I	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	1091	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1091C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	12.69	2.012244	0.35511	.	.	ENSG00000081853	ENST00000394576	T	0.58210	0.35	4.87	3.99	0.46301	Cadherin (3);Cadherin-like (1);	0.000000	0.42548	U	0.000693	T	0.77384	0.4122	M	0.91354	3.2	0.32260	N	0.570253	D;D	0.65815	0.995;0.992	D;D	0.72982	0.979;0.958	D	0.85662	0.1289	10	0.72032	D	0.01	.	15.2826	0.73797	0.0:0.8593:0.1407:0.0	.	364;364	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	I	364	ENSP00000378077:T364I	ENSP00000378077:T364I	T	+	2	0	PCDHGA2	140699813	0.995000	0.38212	0.810000	0.32431	0.084000	0.17831	5.975000	0.70475	1.164000	0.42652	0.313000	0.20887	ACC		0.438	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		11	78	0	0	0	1	0	11	78					T	140719629	C	T	140719629	3	4	46	1	0	0	0	0	1	0	0	0	11563	507	18	3	1093	3	PCDHGA2	5	140719629	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	202951	140719629	40195631	28	4331										
CD74	972	broad.mit.edu	37	chr5	149782827	149782827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	acttgggcctgaatgaacccGggtggacagcagggatgtgg	17	8	0	2	rs529228293		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:149782827G>A	ENST00000009530.7	-	7	675	c.674C>T	c.(673-675)cCg>cTg	p.P225L	CD74_ENST00000353334.6_Intron|CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Intron			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	225	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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)			GAATGAACCCGGGTGGACAGC	0.577			T	ROS1	NSCLC								G|||	1	0.000199681	0	0.0014	5008	,	,		22855	0		0	False		,,,				2504	0					ENST00000009530.7				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.(673-675)cCg>cTg		CD74 molecule, major histocompatibility complex, class II invariant chain							191	201	198					5																	149782827		2166	4266	6432	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.chr5:149782827G>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.674C>T	5.37:g.149782827G>A	ENSP00000009530:p.Pro225Leu		Somatic				CD74_ENST00000353334.6_Intron|CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Intron	p.P225L			WXS	Illumina GAIIx	Phase_I	P04233	HG2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	675	-		all_hematologic(541;0.224)	225			Thyroglobulin type-1.		A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Missense_Mutation	SNP	ENST00000009530.7	37	c.674C>T	CCDS47309.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590124	0.46214	.	.	ENSG00000019582	ENST00000009530	T	0.63096	-0.02	5.61	5.61	0.85477	Thyroglobulin type-1 (4);	0.166500	0.53938	D	0.000047	T	0.69931	0.3166	L	0.41027	1.25	0.58432	D	0.999994	D	0.89917	1.0	D	0.73708	0.981	T	0.61744	-0.7000	10	0.09338	T	0.73	-33.7409	18.4007	0.90515	0.0:0.0:1.0:0.0	.	225	P04233	HG2A_HUMAN	L	225	ENSP00000009530:P225L	ENSP00000009530:P225L	P	-	2	0	CD74	149763020	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	4.459000	0.60102	2.626000	0.88956	0.561000	0.74099	CCG		0.577	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374178.1	NM_004355		22	180	0	0	0	1	0	22	180					A	149782827	G	A	149782827	3	1	46	1	0	0	0	0	1	0	0	0	3037	1116	39	1	228	1	CD74	5	149782827	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	9063198	149782827	31132433	29	4332										
GABRA6	2559	broad.mit.edu	37	chr5	161113261	161113261	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	aaaatgccctagggaaactcGaagttgaaggcaacttctac	9	9	1	1	rs377669113		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:161113261G>T	ENST00000274545.5	+	2	497	c.64G>T	c.(64-66)Gaa>Taa	p.E22*	GABRA6_ENST00000523217.1_Nonsense_Mutation_p.E22*|RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000522269.1_3'UTR			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	22					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGGGAAACTCGAAGTTGAAGG	0.478										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(64-66)Gaa>Taa		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						90	89	89					5																	161113261		2203	4300	6503	SO:0001587	stop_gained	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161113261G>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.64G>T	5.37:g.161113261G>T	ENSP00000274545:p.Glu22*	TCGA Ovarian(5;0.080)	Somatic				GABRA6_ENST00000274545.5_Nonsense_Mutation_p.E22*|GABRA6_ENST00000522269.1_3'UTR	p.E22*	NM_000811.2	NP_000802.2	WXS	Illumina GAIIx	Phase_I	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	306	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	22					A8K096|Q4VAV2	Nonsense_Mutation	SNP	ENST00000274545.5	37	c.64G>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510520	0.64522	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	.	.	.	5.63	2.51	0.30379	.	0.885835	0.10206	N	0.702680	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	9.0197	0.36193	0.3452:0.0:0.6548:0.0	.	.	.	.	X	22	.	ENSP00000274545:E22X	E	+	1	0	GABRA6	161045839	0.003000	0.15002	0.744000	0.31058	0.064000	0.16182	0.024000	0.13555	0.748000	0.32831	0.655000	0.94253	GAA		0.478	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			20	42	1	0	1.01871e-10	1	1.10504e-10	20	42					T	161113261	G	T	161113261	4	4	46	1	0	0	0	0	0	1	0	0	6173	1059	37	2	70	2	GABRA6	5	161113261	Nonsense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	11330434	161113261	19801999	30	4333										
GRM4	2914	broad.mit.edu	37	chr6	34003773	34003773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gcagctgcagcgagatgaggCtgaaggtgatggccagctgt	17	8	0	4			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:34003773C>T	ENST00000538487.2	-	9	2557	c.2114G>A	c.(2113-2115)aGc>aAc	p.S705N	GRM4_ENST00000455714.2_Missense_Mutation_p.S565N|GRM4_ENST00000544773.2_Missense_Mutation_p.S536N|GRM4_ENST00000374177.3_Missense_Mutation_p.S589N|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000609222.1_Missense_Mutation_p.S572N|GRM4_ENST00000374181.4_Missense_Mutation_p.S705N|GRM4_ENST00000535756.1_Missense_Mutation_p.S572N	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	705					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CGAGATGAGGCTGAAGGTGAT	0.637																																						ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2113-2115)aGc>aAc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						92	101	98					6																	34003773		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003773C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2114G>A	6.37:g.34003773C>T	ENSP00000440556:p.Ser705Asn		Somatic				GRM4_ENST00000545715.1_Missense_Mutation_p.S397N|GRM4_ENST00000538487.1_Missense_Mutation_p.S705N|GRM4_ENST00000544773.1_Missense_Mutation_p.S536N|GRM4_ENST00000535756.1_Missense_Mutation_p.S572N|GRM4_ENST00000455714.2_Missense_Mutation_p.S565N|GRM4_ENST00000374177.3_Missense_Mutation_p.S589N	p.S705N	NM_001256810.1	NP_001243739.1	WXS	Illumina GAIIx	Phase_I	Q14833	GRM4_HUMAN			8	2283	-			705					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.2114G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156267	0.38021	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	4.63	3.73	0.42828	GPCR, family 3, C-terminal (2);	0.169634	0.64402	D	0.000006	D	0.89234	0.6657	M	0.75264	2.295	0.36251	D	0.853921	P;P;P;P;P	0.48294	0.908;0.841;0.873;0.801;0.908	P;P;B;B;P	0.55161	0.482;0.601;0.439;0.258;0.77	D	0.88083	0.2808	10	0.33940	T	0.23	.	13.7037	0.62624	0.1604:0.8396:0.0:0.0	.	658;536;565;705;572	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	N	705;589;397;572;536;705;565	ENSP00000363296:S705N;ENSP00000363292:S589N;ENSP00000445533:S397N;ENSP00000437925:S572N;ENSP00000437730:S536N;ENSP00000440556:S705N;ENSP00000398456:S565N	ENSP00000363292:S589N	S	-	2	0	GRM4	34111751	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.211000	0.32382	1.096000	0.41439	0.462000	0.41574	AGC		0.637	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			21	120	0	0	0	1	0	21	120					T	34003773	C	T	34003773	3	4	46	1	0	0	0	0	1	0	0	0	6808	797	28	3	636	3	GRM4	6	34003773	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08		34003773	137111294	31	4334										
PTCRA	171558	broad.mit.edu	37	chr6	42890923	42890923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gcaatggcagtgcactggatGccttcacctatggcccttcc	10	14	1	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:42890923G>A	ENST00000304672.1	+	2	298	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Missense_Mutation_p.A48T	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	73					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGCACTGGATGCCTTCACCTA	0.602																																						ENST00000304672.1																			0				large_intestine(2)|lung(4)|ovary(2)	8						c.(217-219)Gcc>Acc		pre T-cell antigen receptor alpha							180	143	156					6																	42890923		2203	4300	6503	SO:0001583	missense	171558					integral to membrane	receptor activity	g.chr6:42890923G>A	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.217G>A	6.37:g.42890923G>A	ENSP00000304447:p.Ala73Thr		Somatic				PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Missense_Mutation_p.A48T	p.A73T	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	WXS	Illumina GAIIx	Phase_I	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		2	298	+	Colorectal(47;0.196)		73					Q5TFZ7	Missense_Mutation	SNP	ENST00000304672.1	37	c.217G>A	CCDS4874.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024273	0.75390	.	.	ENSG00000171611	ENST00000304672;ENST00000441198	T;T	0.56275	0.47;0.47	5.84	2.92	0.33932	Immunoglobulin-like fold (1);	0.145158	0.32190	N	0.006453	T	0.35595	0.0937	L	0.36672	1.1	0.33481	D	0.587502	D;D	0.56746	0.976;0.977	P;B	0.54060	0.741;0.262	T	0.37776	-0.9691	10	0.72032	D	0.01	-18.3829	6.1672	0.20396	0.0855:0.0:0.5821:0.3324	.	48;73	Q6ISU1-3;Q6ISU1	.;PTCRA_HUMAN	T	73;48	ENSP00000304447:A73T;ENSP00000409550:A48T	ENSP00000304447:A73T	A	+	1	0	PTCRA	42998901	0.905000	0.30787	0.972000	0.41901	0.862000	0.49288	1.178000	0.31981	0.782000	0.33613	-0.188000	0.12872	GCC		0.602	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		16	134	0	0	0	1	0	16	134					A	42890923	G	A	42890923	3	1	46	1	0	0	0	0	1	0	0	0	12747	1319	46	3	223	3	PTCRA	6	42890923	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	8887150	42890923	128224144	32	4335										
DST	667	broad.mit.edu	37	chr6	56484250	56484250	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	aaattgttcttttagatgatCtgattttctctggcagattt	7	5	3	4			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:56484250C>T	ENST00000370765.6	-	23	4689	c.4582G>A	c.(4582-4584)Gat>Aat	p.D1528N	DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTAGATGATCTGATTTTCTC	0.313																																						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.(4582-4584)Gat>Aat		dystonin							61	61	61					6																	56484250		2198	4298	6496	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.chr6:56484250C>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.4582G>A	6.37:g.56484250C>T	ENSP00000359801:p.Asp1528Asn		Somatic				DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron	p.D1528N	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	4689	-	Lung NSC(77;0.103)		5205					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.4582G>A	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547056	0.45383	.	.	ENSG00000151914	ENST00000370765	T	0.34667	1.35	5.46	5.46	0.80206	.	.	.	.	.	T	0.11239	0.0274	.	.	.	0.20703	N	0.999861	B	0.10296	0.003	B	0.08055	0.003	T	0.10268	-1.0637	7	0.23302	T	0.38	.	10.4582	0.44563	0.0:0.8807:0.0:0.1193	.	1528	Q03001-3	.	N	1528	ENSP00000359801:D1528N	ENSP00000359801:D1528N	D	-	1	0	DST	56592209	0.954000	0.32549	0.931000	0.37212	0.906000	0.53458	2.538000	0.45710	2.557000	0.86248	0.585000	0.79938	GAT		0.313	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		15	26	0	0	0	1	0	15	26					T	56484250	C	T	56484250	3	4	46	1	0	0	0	0	1	0	0	0	4785	913	32	3	15821	3	DST	6	56484250	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	13593327	56484250	114630817	33	4336										
MAP3K5	4217	broad.mit.edu	37	chr6	136879965	136879965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	tcaagcattttaagtcatcaCgtgtaacatagtagagaaca	7	7	3	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:136879965C>T	ENST00000359015.4	-	29	4397	c.4037G>A	c.(4036-4038)cGt>cAt	p.R1346H	MAP3K5_ENST00000355845.4_Missense_Mutation_p.R593H	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1346					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)		TAAGTCATCACGTGTAACATA	0.333																																						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.(4036-4038)cGt>cAt		mitogen-activated protein kinase kinase kinase 5							119	123	122					6																	136879965		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136879965C>T	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.4037G>A	6.37:g.136879965C>T	ENSP00000351908:p.Arg1346His		Somatic				MAP3K5_ENST00000355845.4_Missense_Mutation_p.R593H	p.R1346H	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)	29	4397	-	Colorectal(23;0.24)		1346					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.4037G>A	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130325	0.94473	.	.	ENSG00000197442	ENST00000359015;ENST00000355845	D;D	0.87966	-2.32;-2.32	5.35	5.35	0.76521	Sterile alpha motif/pointed domain (1);	0.000000	0.85682	D	0.000000	D	0.93180	0.7828	M	0.81497	2.545	0.58432	D	0.999998	D	0.76494	0.999	D	0.76071	0.987	D	0.93742	0.7051	10	0.87932	D	0	.	19.0643	0.93104	0.0:1.0:0.0:0.0	.	1346	Q99683	M3K5_HUMAN	H	1346;593	ENSP00000351908:R1346H;ENSP00000348104:R593H	ENSP00000348104:R593H	R	-	2	0	MAP3K5	136921658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.989000	0.70587	2.523000	0.85059	0.655000	0.94253	CGT		0.333	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			18	42	0	0	0	1	0	18	42					T	136879965	C	T	136879965	3	4	46	1	0	0	0	0	1	0	0	0	9262	536	19	1	95	1	MAP3K5	6	136879965	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	80395715	136879965	34235102	34	4337										
PLEKHG1	57480	broad.mit.edu	37	chr6	151130354	151130354	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	aagaatgagcggacgctcttCctcttcgacaagctgctgct	10	12	2	2			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:151130354C>A	ENST00000358517.2	+	8	1237	c.1026C>A	c.(1024-1026)ttC>ttA	p.F342L	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.F342L			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	342	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)		GGACGCTCTTCCTCTTCGACA	0.562																																						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.(1024-1026)ttC>ttA		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							109	102	104					6																	151130354		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151130354C>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.1026C>A	6.37:g.151130354C>A	ENSP00000351318:p.Phe342Leu		Somatic				PLEKHG1_ENST00000358517.2_Missense_Mutation_p.F342L	p.F342L	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)	9	1338	+			342			PH.		Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.1026C>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517510	0.85495	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	D;D	0.90844	-2.74;-2.74	5.49	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.67700	2.07	0.58432	D	0.999998	P;D;D	0.71674	0.729;0.998;0.998	B;D;D	0.81914	0.225;0.995;0.995	D	0.92825	0.6275	10	0.51188	T	0.08	.	13.3859	0.60795	0.0:0.9232:0.0:0.0768	.	149;342;342	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	L	342	ENSP00000356297:F342L;ENSP00000351318:F342L	ENSP00000351318:F342L	F	+	3	2	PLEKHG1	151172047	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	1.573000	0.36472	1.293000	0.44690	0.555000	0.69702	TTC		0.562	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			8	99	1	0	1.26484e-09	1	1.34917e-09	8	99					A	151130354	C	A	151130354	3	1	46	1	0	0	0	0	1	0	0	0	12077	854	30	2	1052	2	PLEKHG1	6	151130354	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	14250389	151130354	19984713	35	4338										
SYNE1	23345	broad.mit.edu	37	chr6	152749391	152749391	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ccgtctgtctctccttcgccCtccttaggatgtcctcgtat	7	16	2	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:152749391C>G	ENST00000367255.5	-	37	5526	c.4925G>C	c.(4924-4926)aGg>aCg	p.R1642T	SYNE1_ENST00000423061.1_Missense_Mutation_p.R1649T|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1649T|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1712T|SYNE1_ENST00000367253.4_Missense_Mutation_p.R1642T|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1642T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1642					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)		CTCCTTCGCCCTCCTTAGGAT	0.532										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4924-4926)aGg>aCg		spectrin repeat containing, nuclear envelope 1							194	198	196					6																	152749391		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.chr6:152749391C>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.4925G>C	6.37:g.152749391C>G	ENSP00000356224:p.Arg1642Thr	HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000367253.4_Missense_Mutation_p.R1642T|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1642T|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1649T|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1712T|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1649T	p.R1642T	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)	37	5526	-		Ovarian(120;0.0955)	1642					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.4925G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	9.215	1.032029	0.19590	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65	5.87	-11.7	0.00046	.	1.048510	0.07479	N	0.903606	T	0.04724	0.0128	N	0.02011	-0.69	0.09310	N	0.999998	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.0	B;B;B;B;B	0.09377	0.001;0.001;0.004;0.001;0.002	T	0.34104	-0.9842	10	0.14252	T	0.57	.	13.5599	0.61782	0.0625:0.1615:0.066:0.71	.	1625;1642;1642;1642;1649	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	T	1642;1649;1642;1649;1712;1642	ENSP00000356224:R1642T;ENSP00000396024:R1649T;ENSP00000265368:R1642T;ENSP00000390975:R1649T;ENSP00000341887:R1712T;ENSP00000356222:R1642T	ENSP00000265368:R1642T	R	-	2	0	SYNE1	152791084	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.712000	0.01885	-3.066000	0.00255	-0.782000	0.03352	AGG		0.532	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		40	196	0	0	0	1	0	40	196					G	152749391	C	G	152749391	3	3	46	1	0	0	0	0	1	0	0	0	15460	681	24	5	21981	5	SYNE1	6	152749391	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	1619037	152749391	18365676	36	4339										
SYNE1	23345	broad.mit.edu	37	chr6	152831401	152831401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gatcttggtggtcaccttccGtttacttggtgggctgggag	15	8	2	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:152831401G>A	ENST00000367255.5	-	8	1109	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	SYNE1_ENST00000367248.3_Missense_Mutation_p.R177W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R177W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R177W|SYNE1_ENST00000466159.2_Missense_Mutation_p.R170W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R170W|SYNE1_ENST00000367253.4_Missense_Mutation_p.R170W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R170W|SYNE1_ENST00000413186.2_Missense_Mutation_p.R170W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	170	Actin-binding.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R170W(7)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCACCTTCCGTTTACTTGGT	0.483										HNSCC(10;0.0054)																												ENST00000367255.5																			7	Substitution - Missense(7)	p.R170W(7)	large_intestine(4)|prostate(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(508-510)Cgg>Tgg		spectrin repeat containing, nuclear envelope 1							195	175	182					6																	152831401		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152831401G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.508C>T	6.37:g.152831401G>A	ENSP00000356224:p.Arg170Trp	HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000367253.4_Missense_Mutation_p.R170W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R170W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R177W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R170W|SYNE1_ENST00000413186.2_Missense_Mutation_p.R170W|SYNE1_ENST00000466159.2_Missense_Mutation_p.R170W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R177W|SYNE1_ENST00000367248.3_Missense_Mutation_p.R177W	p.R170W	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)	8	1109	-		Ovarian(120;0.0955)	170			Actin-binding.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.508C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271820	0.59649	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;D;D	0.92348	0.32;0.31;0.22;0.31;0.47;-2.46;-2.58;-2.59;-2.83;-3.02	5.66	1.3	0.21679	Calponin homology domain (1);	0.118151	0.37219	N	0.002183	D	0.94889	0.8348	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.998;0.999;1.0	D	0.95353	0.8448	10	0.72032	D	0.01	.	14.8467	0.70264	0.0:0.0:0.52:0.4799	.	170;170;170;170;177	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	W	170;177;170;177;170;170;177;170;170;170	ENSP00000356224:R170W;ENSP00000396024:R177W;ENSP00000265368:R170W;ENSP00000390975:R177W;ENSP00000341887:R170W;ENSP00000356222:R170W;ENSP00000356217:R177W;ENSP00000414510:R170W;ENSP00000446021:R170W;ENSP00000441264:R170W	ENSP00000265368:R170W	R	-	1	2	SYNE1	152873094	0.978000	0.34361	0.672000	0.29872	0.750000	0.42670	1.413000	0.34725	0.686000	0.31488	-0.202000	0.12741	CGG		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		37	48	0	0	0	1	0	37	48					A	152831401	G	A	152831401	3	1	46	1	0	0	0	0	1	0	0	0	15460	1144	40	1	26514	1	SYNE1	6	152831401	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	82010	152831401	18283666	37	4340										
C6orf70	55780	broad.mit.edu	37	chr6	170181480	170181480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ctggtggcttacaccagttaCgaaaagaacaagtggaatga	11	7	0	2	rs151319719	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:170181480C>T	ENST00000366773.3	+	18	1941	c.1908C>T	c.(1906-1908)taC>taT	p.Y636Y	ERMARD_ENST00000366772.2_Silent_p.Y589Y|ERMARD_ENST00000392095.4_Silent_p.Y510Y|ERMARD_ENST00000588451.1_Silent_p.Y500Y|ERMARD_ENST00000418781.3_Silent_p.Y563Y	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	636					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											ACACCAGTTACGAAAAGAACA	0.323																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(1498-1500)taC>taT				C		0,4406		0,0,2203	96	86	89		1908	-5.2	0	6	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	C6orf70	NM_018341.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		636/679	170181480	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane		g.chr6:170181480C>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.1908C>T	6.37:g.170181480C>T			Somatic				C6orf70_ENST00000366772.2_Silent_p.Y589Y|C6orf70_ENST00000418781.3_Silent_p.Y563Y|C6orf70_ENST00000366773.3_Silent_p.Y636Y|C6orf70_ENST00000392095.4_Silent_p.Y510Y	p.Y500Y			WXS	Illumina GAIIx	Phase_I	Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	17	2013	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	636					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Silent	SNP	ENST00000366773.3	37	c.1500C>T	CCDS34576.1																																																																																				0.323	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		8	19	0	0	0	1	0	8	19					T	170181480	C	T	170181480	2	4	46	1	0	0	0	0	0	0	0	1	2372	547	19	1		1	C6orf70	6	170181480	Silent	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	17350079	170181480	933587	38	4341										
FERD3L	222894	broad.mit.edu	37	chr7	19184880	19184880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	tgggtcccccaaggagacccCgggtgcgaagtcgcagagga	16	12	0	2			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:19184880C>T	ENST00000275461.3	-	1	164	c.106G>A	c.(106-108)Ggg>Agg	p.G36R	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	36			G -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G36R(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						AAGGAGACCCCGGGTGCGAAG	0.657																																						ENST00000275461.3																			1	Substitution - Missense(1)	p.G36R(1)	large_intestine(1)	breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						c.(106-108)Ggg>Agg		Fer3-like bHLH transcription factor							38	36	37					7																	19184880		2203	4299	6502	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184880C>T	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.106G>A	7.37:g.19184880C>T	ENSP00000275461:p.Gly36Arg		Somatic				AC003986.5_ENST00000452700.1_RNA	p.G36R	NM_152898.2	NP_690862.1	WXS	Illumina GAIIx	Phase_I	Q96RJ6	FER3L_HUMAN			1	164	-			36		G -> R (in a colorectal cancer sample; somatic mutation).			Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.106G>A	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	C	5.099	0.203845	0.09704	.	.	ENSG00000146618	ENST00000275461	D	0.96522	-4.04	5.39	3.58	0.41010	.	0.919858	0.09287	N	0.822950	D	0.92064	0.7485	L	0.29908	0.895	0.28012	N	0.934869	B	0.22003	0.063	B	0.15484	0.013	D	0.84325	0.0518	10	0.35671	T	0.21	-14.7993	7.6935	0.28581	0.0:0.7185:0.1343:0.1473	.	36	Q96RJ6	FER3L_HUMAN	R	36	ENSP00000275461:G36R	ENSP00000275461:G36R	G	-	1	0	FERD3L	19151405	0.000000	0.05858	0.024000	0.17045	0.013000	0.08279	1.152000	0.31663	0.652000	0.30806	0.650000	0.86243	GGG		0.657	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			4	43	0	0	0	1	0	4	43					T	19184880	C	T	19184880	3	4	46	1	0	0	0	0	1	0	0	0	5824	652	23	1	398	1	FERD3L	7	19184880	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08		19184880	139953783	39	4342										
CREB5	9586	broad.mit.edu	37	chr7	28547289	28547289	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	tgcgaggaggtgggcctcttCagcgagctggactgctccct	15	12	2	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:28547289C>T	ENST00000357727.2	+	4	615	c.225C>T	c.(223-225)ttC>ttT	p.F75F	CREB5_ENST00000409603.1_Silent_p.F42F|CREB5_ENST00000396300.2_Silent_p.F68F|CREB5_ENST00000396299.2_Silent_p.F42F	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	75					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						TGGGCCTCTTCAGCGAGCTGG	0.542																																						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.(223-225)ttC>ttT		cAMP responsive element binding protein 5							108	114	112					7																	28547289		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.chr7:28547289C>T	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.225C>T	7.37:g.28547289C>T			Somatic				CREB5_ENST00000396299.2_Silent_p.F42F|CREB5_ENST00000396300.2_Silent_p.F68F|CREB5_ENST00000409603.1_Silent_p.F42F	p.F75F	NM_182898.2	NP_878901.2	WXS	Illumina GAIIx	Phase_I	Q02930	CREB5_HUMAN			4	615	+			75					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Silent	SNP	ENST00000357727.2	37	c.225C>T	CCDS5417.1																																																																																				0.542	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		78	104	0	0	0	1	0	78	104					T	28547289	C	T	28547289	2	4	46	1	0	0	0	0	0	0	0	1	3862	825	29	3		3	CREB5	7	28547289	Silent	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	9362409	28547289	130591374	40	4343										
HGF	3082	broad.mit.edu	37	chr7	81388026	81388026	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	acctttgttttcatagaggtCaaattcatggccaaattctt	6	8	4	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:81388026C>G	ENST00000222390.5	-	3	575	c.349G>C	c.(349-351)Gac>Cac	p.D117H	HGF_ENST00000453018.1_Missense_Mutation_p.D14H|HGF_ENST00000444829.2_Missense_Mutation_p.D117H|HGF_ENST00000453411.1_Missense_Mutation_p.D117H|HGF_ENST00000457544.2_Missense_Mutation_p.D117H|HGF_ENST00000354224.6_Missense_Mutation_p.D117H|HGF_ENST00000423064.2_Missense_Mutation_p.D117H	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	117	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				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						TCATAGAGGTCAAATTCATGG	0.348																																						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.(349-351)Gac>Cac		hepatocyte growth factor (hepapoietin A; scatter factor)							102	101	102					7																	81388026		2203	4299	6502	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.chr7:81388026C>G		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.349G>C	7.37:g.81388026C>G	ENSP00000222390:p.Asp117His		Somatic				HGF_ENST00000444829.2_Missense_Mutation_p.D117H|HGF_ENST00000457544.2_Missense_Mutation_p.D117H|HGF_ENST00000354224.6_Missense_Mutation_p.D117H|HGF_ENST00000453411.1_Missense_Mutation_p.D117H|HGF_ENST00000423064.2_Missense_Mutation_p.D117H|HGF_ENST00000453018.1_Missense_Mutation_p.D14H	p.D117H	NM_000601.4	NP_000592.3	WXS	Illumina GAIIx	Phase_I	P14210	HGF_HUMAN			3	575	-			117			PAN.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.349G>C	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143804	0.77888	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000453018;ENST00000412881;ENST00000421558	D;D;D;D;D;D;T;D;T	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65;0.01;-2.65;-0.36	5.16	5.16	0.70880	PAN-1 domain (1);Apple-like (2);Kringle-like fold (1);	0.155477	0.56097	D	0.000031	D	0.95004	0.8383	M	0.71581	2.175	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;0.996;0.997;1.0;1.0	D	0.95137	0.8260	10	0.59425	D	0.04	.	18.6462	0.91410	0.0:1.0:0.0:0.0	.	152;117;117;117;117	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	H	117;117;117;117;117;117;117;14;117;117	ENSP00000222390:D117H;ENSP00000391238:D117H;ENSP00000389854:D117H;ENSP00000408270:D117H;ENSP00000413829:D117H;ENSP00000346164:D117H;ENSP00000395468:D14H;ENSP00000396307:D117H;ENSP00000388592:D117H	ENSP00000222390:D117H	D	-	1	0	HGF	81225962	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	6.011000	0.70760	2.405000	0.81733	0.467000	0.42956	GAC		0.348	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		16	13	0	0	0	1	0	16	13					G	81388026	C	G	81388026	3	3	46	1	0	0	0	0	1	0	0	0	7094	826	29	2	1921	2	HGF	7	81388026	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	52840737	81388026	77750637	41	4344										
PCLO	27445	broad.mit.edu	37	chr7	82584377	82584377	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ccatctaccgatccattgtaCgtgtcttctactaaagattc	5	12	3	1	rs375495710		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:82584377C>T	ENST00000333891.9	-	5	6229	c.5892G>A	c.(5890-5892)acG>acA	p.T1964T	PCLO_ENST00000423517.2_Silent_p.T1964T	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						ATCCATTGTACGTGTCTTCTA	0.383																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5890-5892)acG>acA		piccolo presynaptic cytomatrix protein		C	,	1,3723		0,1,1861	100	100	100		5892,5892	-8.4	0.6	7		100	1,8189		0,1,4094	no	coding-synonymous,coding-synonymous	PCLO	NM_014510.2,NM_033026.5	,	0,2,5955	TT,TC,CC		0.0122,0.0269,0.0168	,	1964/4936,1964/5143	82584377	2,11912	1862	4095	5957	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.chr7:82584377C>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.5892G>A	7.37:g.82584377C>T			Somatic				PCLO_ENST00000333891.8_Silent_p.T1964T	p.T1964T	NM_014510.2	NP_055325.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			5	6229	-			1895						Silent	SNP	ENST00000333891.9	37	c.5892G>A	CCDS47630.1																																																																																				0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	48	0	0	0	1	0	9	48					T	82584377	C	T	82584377	2	4	46	1	0	0	0	0	0	0	0	1	11592	523	19	1		1	PCLO	7	82584377	Silent	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	1196351	82584377	76554286	42	4345										
PCLO	27445	broad.mit.edu	37	chr7	82584412	82584412	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	agattcataaatataatcctCtattagcatcccaccataca	2	11	2	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:82584412C>G	ENST00000333891.9	-	5	6194	c.5857G>C	c.(5857-5859)Gag>Cag	p.E1953Q	PCLO_ENST00000423517.2_Missense_Mutation_p.E1953Q	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						ATATAATCCTCTATTAGCATC	0.368																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5857-5859)Gag>Cag		piccolo presynaptic cytomatrix protein							75	74	75					7																	82584412		1842	4085	5927	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.chr7:82584412C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5857G>C	7.37:g.82584412C>G	ENSP00000334319:p.Glu1953Gln		Somatic				PCLO_ENST00000333891.8_Missense_Mutation_p.E1953Q	p.E1953Q	NM_014510.2	NP_055325.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			5	6194	-			1884						Missense_Mutation	SNP	ENST00000333891.9	37	c.5857G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037531	0.35989	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.23348	1.91;1.92	5.57	5.57	0.84162	.	.	.	.	.	T	0.49423	0.1556	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.46373	-0.9196	9	0.87932	D	0	.	19.5403	0.95271	0.0:1.0:0.0:0.0	.	1953;1953	Q9Y6V0-5;Q9Y6V0-6	.;.	Q	1884;1953;1953	ENSP00000334319:E1953Q;ENSP00000388393:E1953Q	ENSP00000334319:E1953Q	E	-	1	0	PCLO	82422348	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.792000	0.85828	2.619000	0.88677	0.655000	0.94253	GAG		0.368	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		5	47	0	0	0	1	0	5	47					G	82584412	C	G	82584412	3	3	46	1	0	0	0	0	1	0	0	0	11592	922	32	2	9672	2	PCLO	7	82584412	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	35	82584412	76554251	43	4346										
LMTK2	22853	broad.mit.edu	37	chr7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-													0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ccgccggcgttgcggcggagGctgctgctgctgctgctggt					rs548021046	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:97736519_97736521delGCT	ENST00000297293.5	+	1	323_325	c.30_32delGCT	c.(28-33)aggctg>agg	p.L16del		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	16					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(28-33)agg>ag		lemur tyrosine kinase 2				31,1377		8,15,681						-3.5	0.1		dbSNP_134	2	92,3378		12,68,1655	no	coding	LMTK2	NM_014916.3		20,83,2336	A1A1,A1R,RR		2.6513,2.2017,2.5215				123,4755				SO:0001651	inframe_deletion	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97736519_97736521delGCT	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.30_32delGCT	7.37:g.97736528_97736530delGCT	ENSP00000297293:p.Leu16del		Somatic					p.RL10del	NM_014916.3	NP_055731.2	WXS	Illumina GAIIx	Phase_I	Q8IWU2	LMTK2_HUMAN			1	323_325	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		10					A4D272|Q75MG7|Q9UPS3	In_Frame_Del	DEL	ENST00000297293.5	37	c.30_32delGCT	CCDS5654.1																																																																																				0.764	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		3	3						3	3	---	---	---	---	-	97736521	GCT	-	97736519	7	5	46	1	0	1	0	1	0	0	0	0	8868	1194	42	0	32	0	LMTK2	7	97736519	In_Frame_Del	DEL	GCT	TCGA-ND-A4W6-01A-11D-A28R-08	15152107	97736519	61402144	44	4347										
CHRNA2	1135	broad.mit.edu	37	chr8	27321250	27321250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	tcttgctgttgtaggtgcccGtggcattgacgatggcccac	13	11	1	1	rs140350483	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:27321250G>A	ENST00000520933.2	-	5	863	c.710C>T	c.(709-711)aCg>aTg	p.T237M	CHRNA2_ENST00000240132.2_Missense_Mutation_p.T222M|CHRNA2_ENST00000407991.1_Missense_Mutation_p.T237M			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	237					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	GTAGGTGCCCGTGGCATTGAC	0.592																																						ENST00000407991.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(709-711)aCg>aTg		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)						215	173	187					8																	27321250		2203	4300	6503	SO:0001583	missense	0					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27321250G>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.710C>T	8.37:g.27321250G>A	ENSP00000429616:p.Thr237Met		Somatic				CHRNA2_ENST00000240132.2_Missense_Mutation_p.T222M|CHRNA2_ENST00000520933.2_Missense_Mutation_p.T237M	p.T237M	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)	6	1318	-		Ovarian(32;2.61e-05)	237					A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	c.710C>T	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153624	0.78114	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	T;T;T	0.79749	-1.3;-1.3;-1.3	4.97	4.02	0.46733	Neurotransmitter-gated ion-channel ligand-binding (3);	0.247838	0.41938	N	0.000796	T	0.81635	0.4864	M	0.64630	1.985	0.40443	D	0.980066	D;D	0.59357	0.985;0.97	P;P	0.54372	0.75;0.75	T	0.82750	-0.0303	10	0.87932	D	0	.	5.904	0.18982	0.2039:0.0:0.7961:0.0	.	222;237	B4DK19;Q15822	.;ACHA2_HUMAN	M	237;237;222	ENSP00000385026:T237M;ENSP00000429616:T237M;ENSP00000240132:T222M	ENSP00000240132:T222M	T	-	2	0	CHRNA2	27377167	1.000000	0.71417	0.991000	0.47740	0.984000	0.73092	6.280000	0.72626	2.590000	0.87494	0.561000	0.74099	ACG		0.592	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			29	35	0	0	0	1	0	29	35					A	27321250	G	A	27321250	3	1	46	1	0	0	0	0	1	0	0	0	3385	1145	40	1	887	1	CHRNA2	8	27321250	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08		27321250	119042772	45	4348										
XKR4	114786	broad.mit.edu	37	chr8	56435862	56435862	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ttcacagcggcagcttccctCgtgtccctggcctgggcctt	11	16	1	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:56435862C>T	ENST00000327381.6	+	3	1129	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	343						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGCTTCCCTCGTGTCCCTGG	0.572																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1027-1029)ctC>ctT		XK, Kell blood group complex subunit-related family, member 4							50	48	49					8																	56435862		2203	4300	6503	SO:0001819	synonymous_variant	114786					integral to membrane		g.chr8:56435862C>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1029C>T	8.37:g.56435862C>T			Somatic					p.L343L	NM_052898.1	NP_443130.1	WXS	Illumina GAIIx	Phase_I	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1129	+			343					Q96PZ8	Silent	SNP	ENST00000327381.6	37	c.1029C>T	CCDS34893.1																																																																																				0.572	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		35	10	0	0	0	1	0	35	10					T	56435862	C	T	56435862	2	4	46	1	0	0	0	0	0	0	0	1	17448	871	31	1		1	XKR4	8	56435862	Silent	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	29114612	56435862	89928160	46	4349										
PABPC1	26986	broad.mit.edu	37	chr8	101727709	101727709	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ccaaacttgccaaagagatcCttaaggcgctcatcatccat	6	13	2	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:101727709C>A	ENST00000318607.5	-	4	1752	c.624G>T	c.(622-624)aaG>aaT	p.K208N	PABPC1_ENST00000519004.1_Missense_Mutation_p.K163N|PABPC1_ENST00000522387.1_Missense_Mutation_p.K176N|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	208	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|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)|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)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|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)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CAAAGAGATCCTTAAGGCGCT	0.353																																						ENST00000318607.5																			0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(622-624)aaG>aaT		poly(A) binding protein, cytoplasmic 1							102	96	98					8																	101727709		2203	4300	6503	SO:0001583	missense	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101727709C>A	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.624G>T	8.37:g.101727709C>A	ENSP00000313007:p.Lys208Asn		Somatic				PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Missense_Mutation_p.K176N|PABPC1_ENST00000519004.1_Missense_Mutation_p.K163N	p.K208N	NM_002568.3	NP_002559.2	WXS	Illumina GAIIx	Phase_I	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		4	1752	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		208			CSDE1-binding.|RRM 3.		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	c.624G>T	CCDS6289.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	14.25|14.25|14.25	2.480745|2.480745|2.480745	0.44044|0.44044|0.44044	.|.|.	.|.|.	ENSG00000070756|ENSG00000070756|ENSG00000070756	ENST00000519596;ENST00000523555|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519100	.|D;D;T|.	.|0.86297|.	.|-2.1;-2.1;2.14|.	5.03|5.03|5.03	5.03|5.03|5.03	0.67393|0.67393|0.67393	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	.|0.000000|.	.|0.64402|.	.|D|.	.|0.000004|.	.|T|T	.|0.58509|0.58509	.|0.2127|0.2127	L|L|L	0.43701|0.43701|0.43701	1.375|1.375|1.375	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|B;B;B|.	.|0.23185|.	.|0.014;0.081;0.081|.	.|B;B;B|.	.|0.32342|.	.|0.049;0.144;0.093|.	.|T|T	.|0.54931|0.54931	.|-0.8219|-0.8219	.|10|5	.|0.42905|.	.|T|.	.|0.14|.	.|.|.	12.1463|12.1463|12.1463	0.54026|0.54026|0.54026	0.0:0.921:0.0:0.079|0.0:0.921:0.0:0.079|0.0:0.921:0.0:0.079	.|.|.	.|176;208;208|.	.|E7ERJ7;B3KT93;P11940|.	.|.;.;PABP1_HUMAN|.	X|N|M	41;155|208;208;163;176|80	.|ENSP00000313007:K208N;ENSP00000429594:K163N;ENSP00000429395:K176N|.	.|ENSP00000313007:K208N|.	G|K|R	-|-|-	1|3|2	0|2|0	PABPC1|PABPC1|PABPC1	101796885|101796885|101796885	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	2.725000|2.725000|2.725000	0.47294|0.47294|0.47294	2.482000|2.482000|2.482000	0.83794|0.83794|0.83794	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GGA|AAG|AGG		0.353	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568		8	89	1	0	1.26484e-09	1	1.34917e-09	8	89					A	101727709	C	A	101727709	3	1	46	1	0	0	0	0	1	0	0	0	11372	680	24	5	1330	5	PABPC1	8	101727709	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	45291847	101727709	44636313	47	4350										
LRRC24	441381	broad.mit.edu	37	chr8	145749618	145749618	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	cccgctagagcctggtcctcCagcagctcaatgctgttttc	9	15	1	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:145749618C>G	ENST00000529415.2	-	4	600	c.483G>C	c.(481-483)ctG>ctC	p.L161L	LRRC14_ENST00000292524.1_3'UTR|LRRC14_ENST00000528528.1_Intron|LRRC24_ENST00000533758.1_Silent_p.L158L			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	161						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTGGTCCTCCAGCAGCTCAA	0.617																																						ENST00000529415.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(1)	5						c.(481-483)ctG>ctC		leucine rich repeat containing 24							58	63	61					8																	145749618		2202	4299	6501	SO:0001819	synonymous_variant	441381					integral to membrane		g.chr8:145749618C>G	AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"Immunoglobulin superfamily / I-set domain containing"	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.483G>C	8.37:g.145749618C>G			Somatic				LRRC14_ENST00000528528.1_Intron|LRRC24_ENST00000533758.1_Silent_p.L158L|LRRC14_ENST00000292524.1_3'UTR	p.L161L			WXS	Illumina GAIIx	Phase_I	Q50LG9	LRC24_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	600	-	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)		161						Silent	SNP	ENST00000529415.2	37	c.483G>C	CCDS34969.1																																																																																				0.617	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678		11	173	0	0	0	1	0	11	173					G	145749618	C	G	145749618	2	3	46	1	0	0	0	0	0	0	0	1	8988	581	21	5		5	LRRC24	8	145749618	Silent	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	44021909	145749618	614404	48	4351										
FRMPD1	22844	broad.mit.edu	37	chr9	37745756	37745756	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ggcaagatatagcccctaggGacagccctgagtgggtctgt	14	10	1	2			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr9:37745756G>T	ENST00000539465.1	+	16	4320	c.3727G>T	c.(3727-3729)Gac>Tac	p.D1243Y	FRMPD1_ENST00000377765.3_Missense_Mutation_p.D1243Y|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1243						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)		AGCCCCTAGGGACAGCCCTGA	0.512																																						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.(3727-3729)Gac>Tac		FERM and PDZ domain containing 1							82	81	81					9																	37745756		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745756G>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3727G>T	9.37:g.37745756G>T	ENSP00000444411:p.Asp1243Tyr		Somatic				RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D1243Y	p.D1243Y			WXS	Illumina GAIIx	Phase_I	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4320	+			1243					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.3727G>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744709	0.49151	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.08807	3.05;3.05	5.29	2.36	0.29203	.	0.708215	0.14756	N	0.300269	T	0.07413	0.0187	N	0.24115	0.695	0.09310	N	1	P	0.50943	0.94	P	0.48030	0.564	T	0.25710	-1.0124	10	0.49607	T	0.09	-6.7524	5.1771	0.15141	0.1846:0.1704:0.645:0.0	.	1243	Q5SYB0	FRPD1_HUMAN	Y	1243	ENSP00000366995:D1243Y;ENSP00000444411:D1243Y	ENSP00000366995:D1243Y	D	+	1	0	FRMPD1	37735756	0.020000	0.18652	0.012000	0.15200	0.101000	0.19017	1.471000	0.35365	0.592000	0.29728	0.556000	0.70494	GAC		0.512	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		44	60	1	0	3.66854e-30	1	4.08325e-30	44	60					T	37745756	G	T	37745756	3	4	46	1	0	0	0	0	1	0	0	0	6065	1174	41	2	3785	2	FRMPD1	9	37745756	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08		37745756	103467675	49	4352										
MCART1	92014	broad.mit.edu	37	chr9	37888412	37888412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ctgaatgggaaatgtgattgCgacattgttgaaggctgcac	13	6	0	3	rs370897815		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr9:37888412C>T	ENST00000377716.2	-	3	879	c.136G>A	c.(136-138)Gca>Aca	p.A46T	SLC25A51_ENST00000242275.6_Missense_Mutation_p.A46T|SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000380590.3_Missense_Mutation_p.A46T|RP11-613M10.9_ENST00000540557.1_Intron			Q9H1U9	S2551_HUMAN	solute carrier family 25, member 51	46					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											AATGTGATTGCGACATTGTTG	0.408																																						ENST00000377716.2																			0											c.(136-138)Gca>Aca		solute carrier family 25, member 51		C	THR/ALA	0,4406		0,0,2203	106	99	101		136	5.1	0	9		101	2,8598		0,2,4298	no	missense	MCART1	NM_033412.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	46/298	37888412	2,13004	2203	4300	6503	SO:0001583	missense	92014				transport	integral to membrane|mitochondrial inner membrane		g.chr9:37888412C>T	BC008500	CCDS6614.1	9p13.3-p12	2013-05-22	2012-03-29	2012-03-29	ENSG00000122696	ENSG00000122696		"Solute carriers"	23323	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 1"	MCART1		12477932	Standard	NM_033412		Approved	MGC14836, CG7943	uc004aav.2	Q9H1U9	OTTHUMG00000019935	ENST00000377716.2:c.136G>A	9.37:g.37888412C>T	ENSP00000366945:p.Ala46Thr		Somatic				SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000380590.3_Missense_Mutation_p.A46T|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000242275.6_Missense_Mutation_p.A46T	p.A46T			WXS	Illumina GAIIx	Phase_I	Q9H1U9	MCAR1_HUMAN			3	879	-			46						Missense_Mutation	SNP	ENST00000377716.2	37	c.136G>A	CCDS6614.1	.	.	.	.	.	.	.	.	.	.	.	3.446	-0.113101	0.06881	0.0	2.33E-4	ENSG00000122696	ENST00000380590;ENST00000377716;ENST00000242275	T;T;T	0.77750	-1.12;-1.12;-1.12	5.08	5.08	0.68730	Mitochondrial carrier domain (2);	0.420063	0.24178	N	0.040826	T	0.65069	0.2656	N	0.17764	0.52	0.20196	N	0.999922	B	0.12630	0.006	B	0.08055	0.003	T	0.50775	-0.8788	10	0.25751	T	0.34	.	15.9661	0.79970	0.0:1.0:0.0:0.0	.	46	Q9H1U9	MCAR1_HUMAN	T	46	ENSP00000369964:A46T;ENSP00000366945:A46T;ENSP00000242275:A46T	ENSP00000242275:A46T	A	-	1	0	MCART1	37878412	0.069000	0.21087	0.022000	0.16811	0.180000	0.23129	0.648000	0.24828	2.367000	0.80283	0.585000	0.79938	GCA		0.408	SLC25A51-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313746.1	NM_033412		12	86	0	0	0	1	0	12	86					T	37888412	C	T	37888412	3	4	46	1	0	0	0	0	1	0	0	0	9378	768	27	1	761	1	MCART1	9	37888412	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	142656	37888412	103325019	50	4353										
FLJ46321	389763	broad.mit.edu	37	chr9	84608177	84608177	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	atccatagaaatcttcaaatCgaaagcggacctttccactt	5	11	2	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr9:84608177C>A	ENST00000344803.2	+	4	2839	c.2792C>A	c.(2791-2793)tCg>tAg	p.S931*		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	931					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATCTTCAAATCGAAAGCGGAC	0.468																																						ENST00000344803.2																			0											c.(2791-2793)tCg>tAg		SPATA31 subfamily D, member 1							59	55	57					9																	84608177		1870	4102	5972	SO:0001587	stop_gained	389763							g.chr9:84608177C>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2792C>A	9.37:g.84608177C>A	ENSP00000341988:p.Ser931*		Somatic					p.S931*	NM_001001670.2	NP_001001670.1	WXS	Illumina GAIIx	Phase_I					4	2839	+									Nonsense_Mutation	SNP	ENST00000344803.2	37	c.2792C>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104905	0.94245	.	.	ENSG00000214929	ENST00000344803	.	.	.	3.21	-3.43	0.04810	.	2.757310	0.02226	N	0.064418	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	4.4458	3.7818	0.08683	0.1938:0.4509:0.0:0.3553	.	.	.	.	X	931	.	ENSP00000341988:S931X	S	+	2	0	FAM75D1	83797997	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.909000	0.04058	-0.744000	0.04778	-0.312000	0.09012	TCG		0.468	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		8	30	1	0	0.00448238	1	0.00462697	8	30					A	84608177	C	A	84608177	4	1	46	1	0	0	0	0	0	1	0	0	5940	893	31	2	2806	2	FLJ46321	9	84608177	Nonsense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	46719765	84608177	56605254	51	4354										
KLF6	1316	broad.mit.edu	37	chr10	3822356	3822356	+	Frame_Shift_Del	DEL	T	T	-													0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gtgctttcggaagtgcctggTtaactcatcacttcttgcaa							TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr10:3822356delT	ENST00000497571.1	-	3	1002	c.742delA	c.(742-744)accfs	p.T248fs	KLF6_ENST00000542957.1_Intron|KLF6_ENST00000173785.4_5'UTR	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	248					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		AAGTGCCTGGTTAACTCATCA	0.552																																						ENST00000497571.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(742-744)ccfs		Kruppel-like factor 6							217	164	182					10																	3822356		2203	4300	6503	SO:0001589	frameshift_variant	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3822356delT	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	2235	protein-coding gene	gene with protein product	"GC-rich binding factor"	602053	"core promoter element binding protein"	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.742delA	10.37:g.3822356delT	ENSP00000419923:p.Thr248fs		Somatic				KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Intron	p.T248fs	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	WXS	Illumina GAIIx	Phase_I	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	3	1002	-			248					B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Frame_Shift_Del	DEL	ENST00000497571.1	37	c.742delA	CCDS7060.1																																																																																				0.552	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			40	44						40	44	---	---	---	---	-	3822356	T	-	3822356	7	5	46	1	0	1	0	1	0	0	0	0	8359	1725	60	0	117	0	KLF6	10	3822356	Frame_Shift_Del	DEL	T	TCGA-ND-A4W6-01A-11D-A28R-08		3822356	131712391	52	4355										
CTNNA3	29119	broad.mit.edu	37	chr10	67862963	67862963	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ctggtgtgactgcggacctcGtgttcctcttcaaggtcaga	12	11	3	2	rs147760277	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr10:67862963G>A	ENST00000433211.2	-	14	2103	c.1929C>T	c.(1927-1929)caC>caT	p.H643H	RP11-210G22.1_ENST00000608793.1_RNA|CTNNA3_ENST00000373744.4_Silent_p.H643H	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						TGCGGACCTCGTGTTCCTCTT	0.458																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(1927-1929)caC>caT		catenin (cadherin-associated protein), alpha 3		G	,	1,4405	2.1+/-5.4	0,1,2202	205	154	172		1929,1929	-3.5	0.9	10	dbSNP_134	172	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous	CTNNA3	NM_001127384.1,NM_013266.2	,	0,13,6490	AA,AG,GG		0.1395,0.0227,0.1	,	643/896,643/896	67862963	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67862963G>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.1929C>T	10.37:g.67862963G>A			Somatic				CTNNA3_ENST00000373744.4_Silent_p.H643H	p.H643H	NM_013266.2	NP_037398.2	WXS	Illumina GAIIx	Phase_I	Q9UI47	CTNA3_HUMAN			14	2103	-			643						Silent	SNP	ENST00000433211.2	37	c.1929C>T	CCDS7269.1																																																																																				0.458	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		25	16	0	0	0	1	0	25	16					A	67862963	G	A	67862963	2	1	46	1	0	0	0	0	0	0	0	1	4016	1136	40	1		1	CTNNA3	10	67862963	Silent	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	64040607	67862963	67671784	53	4356										
CTBP2	1488	broad.mit.edu	37	chr10	126716241	126716241	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ccccagaggccgcagggactCggcgttctcccaggggccct	14	17	1	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr10:126716241C>T	ENST00000337195.5	-	3	458				CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000309035.6_Missense_Mutation_p.E30K|CTBP2_ENST00000531469.1_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)	p.E30K(1)		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)		CGCAGGGACTCGGCGTTCTCC	0.587																																						ENST00000309035.6																			1	Substitution - Missense(1)	p.E30K(1)	lung(1)	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.(88-90)Gag>Aag		C-terminal binding protein 2							34	35	35					10																	126716241		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.chr10:126716241C>T	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+11324G>A	10.37:g.126716241C>T			Somatic				CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron	p.E30K	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	218	-		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.88G>A	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962061	0.34659	.	.	ENSG00000175029	ENST00000309035	D	0.94793	-3.52	4.34	2.41	0.29592	.	2.456160	0.01836	N	0.034996	D	0.91168	0.7218	.	.	.	0.80722	D	1	P	0.50710	0.938	B	0.37091	0.241	D	0.84405	0.0562	9	0.54805	T	0.06	.	8.5459	0.33421	0.0:0.7553:0.1572:0.0875	.	30	P56545-2	.	K	30	ENSP00000311825:E30K	ENSP00000311825:E30K	E	-	1	0	CTBP2	126706231	0.154000	0.22792	0.166000	0.22797	0.332000	0.28634	1.448000	0.35112	1.142000	0.42291	0.650000	0.86243	GAG		0.587	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		4	26	0	0	0	1	0	4	26					T	126716241	C	T	126716241	1	4	46	0	1	0	0	0	0	0	0	0	4000	893	31	1		1	CTBP2	10	126716241	Intron	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	58853278	126716241	8818506	54	4357										
OR52W1	120787	broad.mit.edu	37	chr11	6221330	6221330	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	acttgctgctgccacctgccCtcaaccccctcatctatggg	7	18	3	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:6221330C>A	ENST00000311352.2	+	1	955	c.877C>A	c.(877-879)Ctc>Atc	p.L293I	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	293						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(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCACCTGCCCTCAACCCCCT	0.532																																						ENST00000311352.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11						c.(877-879)Ctc>Atc		olfactory receptor, family 52, subfamily W, member 1							227	231	230					11																	6221330		2201	4296	6497	SO:0001583	missense	120787				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6221330C>A	AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"GPCR / Class A : Olfactory receptors"	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.877C>A	11.37:g.6221330C>A	ENSP00000309673:p.Leu293Ile		Somatic					p.L293I	NM_001005178.1	NP_001005178.1	WXS	Illumina GAIIx	Phase_I	Q6IF63	O52W1_HUMAN		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	955	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	293					Q8NH78	Missense_Mutation	SNP	ENST00000311352.2	37	c.877C>A	CCDS31407.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168191	0.57476	.	.	ENSG00000175485	ENST00000311352	T	0.44083	0.93	5.1	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.229124	0.22326	N	0.061536	T	0.40067	0.1102	M	0.66560	2.04	0.35217	D	0.775697	B	0.31968	0.349	B	0.24541	0.054	T	0.55939	-0.8061	10	0.66056	D	0.02	.	12.5721	0.56342	0.0:0.9194:0.0:0.0806	.	293	Q6IF63	O52W1_HUMAN	I	293	ENSP00000309673:L293I	ENSP00000309673:L293I	L	+	1	0	OR52W1	6177906	0.073000	0.21202	1.000000	0.80357	0.941000	0.58515	0.471000	0.22100	1.263000	0.44181	0.557000	0.71058	CTC		0.532	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1	NM_001005178		5	297	1	0	0.217242	1	0.218953	5	297					A	6221330	C	A	6221330	3	1	46	1	0	0	0	0	1	0	0	0	11141	681	24	5	879	5	OR52W1	11	6221330	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08		6221330	128785186	55	4358										
OR5L1	219437	broad.mit.edu	37	chr11	55579557	55579557	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ctgttcctggtggccactttGaatgagagtgttaccatcat	10	9	1	2			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:55579557G>A	ENST00000333973.2	+	1	704	c.615G>A	c.(613-615)ttG>ttA	p.L205L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	205						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)				TGGCCACTTTGAATGAGAGTG	0.468																																						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.(613-615)ttG>ttA		olfactory receptor, family 5, subfamily L, member 1							247	203	218					11																	55579557		2200	4296	6496	SO:0001819	synonymous_variant	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579557G>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.615G>A	11.37:g.55579557G>A			Somatic					p.L205L	NM_001004738.1	NP_001004738.1	WXS	Illumina GAIIx	Phase_I	Q8NGL2	OR5L1_HUMAN			1	704	+		all_epithelial(135;0.208)	205					B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	c.615G>A	CCDS31509.1																																																																																				0.468	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		16	104	0	0	0	1	0	16	104					A	55579557	G	A	55579557	2	1	46	1	0	0	0	0	0	0	0	1	11179	1281	45	3		3	OR5L1	11	55579557	Silent	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	49358227	55579557	79426959	56	4359										
NRXN2	9379	broad.mit.edu	37	chr11	64374750	64374750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gggccttctctttcaccaccGccccattgctctgggccgag	10	17	3	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:64374750G>A	ENST00000377551.1	-	22	5268	c.5057C>T	c.(5056-5058)gCg>gTg	p.A1686V	NRXN2_ENST00000265459.6_Missense_Mutation_p.A1686V|NRXN2_ENST00000409571.1_Missense_Mutation_p.A1679V|NRXN2_ENST00000377559.3_Missense_Mutation_p.A1616V|NRXN2_ENST00000301894.2_Missense_Mutation_p.A640V			Q9P2S2	NRX2A_HUMAN	neurexin 2	1686					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						TTTCACCACCGCCCCATTGCT	0.582																																						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.(5056-5058)gCg>gTg		neurexin 2							52	53	53					11																	64374750		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64374750G>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.5057C>T	11.37:g.64374750G>A	ENSP00000366774:p.Ala1686Val		Somatic				NRXN2_ENST00000377559.3_Missense_Mutation_p.A1616V|NRXN2_ENST00000301894.2_Missense_Mutation_p.A640V|NRXN2_ENST00000409571.1_Missense_Mutation_p.A1679V|NRXN2_ENST00000377551.1_Missense_Mutation_p.A1686V	p.A1686V	NM_015080.3	NP_055895.1	WXS	Illumina GAIIx	Phase_I	Q9P2S2	NRX2A_HUMAN			23	5518	-			1686					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.5057C>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780642	0.70222	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T;T	0.70631	-0.14;-0.43;-0.5;-0.43;-0.33	4.46	3.53	0.40419	.	0.132994	0.25830	U	0.028032	T	0.77671	0.4165	M	0.62723	1.935	0.58432	D	0.999995	D;D;D;D	0.76494	0.998;0.99;0.999;0.994	P;P;P;P	0.62649	0.891;0.734;0.905;0.562	T	0.79169	-0.1914	10	0.72032	D	0.01	.	9.4359	0.38639	0.1061:0.0:0.8939:0.0	.	1616;1686;1432;640	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	V	640;1686;1616;1686;1616;1679	ENSP00000301894:A640V;ENSP00000366774:A1686V;ENSP00000366782:A1616V;ENSP00000265459:A1686V;ENSP00000386416:A1679V	ENSP00000265459:A1686V	A	-	2	0	NRXN2	64131326	1.000000	0.71417	0.972000	0.41901	0.958000	0.62258	7.664000	0.83830	2.033000	0.60031	0.313000	0.20887	GCG		0.582	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		9	29	0	0	0	1	0	9	29					A	64374750	G	A	64374750	3	1	46	1	0	0	0	0	1	0	0	0	10675	1087	38	1	85	1	NRXN2	11	64374750	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	8795193	64374750	70631766	57	4360										
GAL3ST3	89792	broad.mit.edu	37	chr11	65810819	65810819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	cgaacatggcggccggctcgCgcaggatggtgacatagacg	16	11	0	2			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:65810819C>T	ENST00000312006.4	-	3	736	c.455G>A	c.(454-456)cGc>cAc	p.R152H	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R152H	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	152					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						GGCCGGCTCGCGCAGGATGGT	0.697																																						ENST00000312006.4																			0				kidney(1)|lung(9)|ovary(2)|skin(2)	14						c.(454-456)cGc>cAc		galactose-3-O-sulfotransferase 3							23	25	25					11																	65810819		2197	4291	6488	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.chr11:65810819C>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.455G>A	11.37:g.65810819C>T	ENSP00000308591:p.Arg152His		Somatic				GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R152H	p.R152H	NM_033036.2	NP_149025.1	WXS	Illumina GAIIx	Phase_I	Q96A11	G3ST3_HUMAN			3	736	-			152					Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.455G>A	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613998	0.66672	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	D;D	0.99980	-10.28;-10.28	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.99977	0.9993	M	0.92412	3.305	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	D	0.96272	0.9199	10	0.87932	D	0	-22.9321	15.4161	0.74970	0.0:1.0:0.0:0.0	.	152	Q96A11	G3ST3_HUMAN	H	152	ENSP00000308591:R152H;ENSP00000434829:R152H	ENSP00000308591:R152H	R	-	2	0	GAL3ST3	65567395	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	7.758000	0.85224	2.304000	0.77564	0.561000	0.74099	CGC		0.697	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		7	22	0	0	0	1	0	7	22					T	65810819	C	T	65810819	3	4	46	1	0	0	0	0	1	0	0	0	6207	768	27	1	844	1	GAL3ST3	11	65810819	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	1436069	65810819	69195697	58	4361										
LRP5	4041	broad.mit.edu	37	chr11	68170953	68170953	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	atttctgccgtcctgcaggtGatcaatgttgatgggacgaa	12	8	2	2			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:68170953G>A	ENST00000294304.7	+	8	1693	c.1587G>A	c.(1585-1587)gtG>gtA	p.V529V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	529	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCTGCAGGTGATCAATGTTG	0.592																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1585-1587)gtG>gtA		low density lipoprotein receptor-related protein 5							73	59	64					11																	68170953		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68170953G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1587G>A	11.37:g.68170953G>A			Somatic					p.V529V	NM_002335.2	NP_002326.2	WXS	Illumina GAIIx	Phase_I	O75197	LRP5_HUMAN			8	1693	+			529			Beta-propeller 2.		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.1587G>A	CCDS8181.1																																																																																				0.592	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		10	40	0	0	0	1	0	10	40					A	68170953	G	A	68170953	2	1	46	1	0	0	0	0	0	0	0	1	8969	1277	45	3		3	LRP5	11	68170953	Silent	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	2360134	68170953	66835563	59	4362										
FAT3	120114	broad.mit.edu	37	chr11	92523240	92523240	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gaagccacagatagagatgaGaagcacaagctgagctacac	11	9	0	4			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:92523240G>C	ENST00000298047.6	+	7	4484	c.4467G>C	c.(4465-4467)gaG>gaC	p.E1489D	FAT3_ENST00000409404.2_Missense_Mutation_p.E1489D|FAT3_ENST00000525166.1_Missense_Mutation_p.E1339D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1489	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)				ATAGAGATGAGAAGCACAAGC	0.493										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.(4465-4467)gaG>gaC		FAT atypical cadherin 3							187	181	183					11																	92523240		2089	4238	6327	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92523240G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4467G>C	11.37:g.92523240G>C	ENSP00000298047:p.Glu1489Asp	TCGA Ovarian(4;0.039)	Somatic				FAT3_ENST00000525166.1_Missense_Mutation_p.E1339D|FAT3_ENST00000409404.2_Missense_Mutation_p.E1489D	p.E1489D			WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			7	4484	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1489			Cadherin 14.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4467G>C		.	.	.	.	.	.	.	.	.	.	G	20.6	4.023913	0.75390	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.38560	1.13;1.13;1.13	6.17	5.09	0.68999	.	.	.	.	.	T	0.57373	0.2049	M	0.73430	2.235	0.80722	D	1	D	0.61697	0.99	P	0.59487	0.858	T	0.57195	-0.7853	9	0.51188	T	0.08	.	10.3919	0.44175	0.1772:0.0:0.8228:0.0	.	1489	Q8TDW7-3	.	D	1489;1489;1339	ENSP00000298047:E1489D;ENSP00000387040:E1489D;ENSP00000432586:E1339D	ENSP00000298047:E1489D	E	+	3	2	FAT3	92162888	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.002000	0.57053	2.941000	0.99782	0.655000	0.94253	GAG		0.493	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		42	114	0	0	0	1	0	42	114					C	92523240	G	C	92523240	3	2	46	1	0	0	0	0	1	0	0	0	5699	933	33	2	4493	2	FAT3	11	92523240	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	24352287	92523240	42483276	60	4363										
PUS3	83480	broad.mit.edu	37	chr11	125765618	125765618	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	agcagcagcattagcctcctCttttacattaaagtcctcgg	7	12	1	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:125765618C>G	ENST00000530811.1	-	2	490	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.E149Q|HYLS1_ENST00000526028.1_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	149					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	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;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TTAGCCTCCTCTTTTACATTA	0.493																																						ENST00000227474.3																			0				NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(445-447)Gag>Cag		pseudouridylate synthase 3							89	100	96					11																	125765618		2201	4299	6500	SO:0001583	missense	83480					nucleus	RNA binding	g.chr11:125765618C>G	BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.445G>C	11.37:g.125765618C>G	ENSP00000432386:p.Glu149Gln		Somatic				PUS3_ENST00000530811.1_Missense_Mutation_p.E149Q|HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000526028.1_Intron	p.E149Q	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	WXS	Illumina GAIIx	Phase_I	Q9BZE2	PUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)	3	542	-	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)	149					B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	ENST00000530811.1	37	c.445G>C	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	C	0.073	-1.197485	0.01594	.	.	ENSG00000110060	ENST00000227474;ENST00000530811;ENST00000534158	T;T;T	0.56103	1.42;1.42;0.48	6.06	-0.144	0.13440	Pseudouridine synthase I, TruA, N-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	1.053990	0.07305	N	0.874746	T	0.34571	0.0902	N	0.19112	0.55	0.09310	N	1	B	0.22003	0.063	B	0.29942	0.109	T	0.30238	-0.9985	10	0.26408	T	0.33	-1.44	3.2908	0.06948	0.1036:0.3853:0.1013:0.4098	.	149	Q9BZE2	PUS3_HUMAN	Q	149	ENSP00000227474:E149Q;ENSP00000432386:E149Q;ENSP00000432272:E149Q	ENSP00000227474:E149Q	E	-	1	0	PUS3	125270828	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.012000	0.13287	-0.265000	0.09352	0.655000	0.94253	GAG		0.493	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	NM_031307		26	69	0	0	0	1	0	26	69					G	125765618	C	G	125765618	3	3	46	1	0	0	0	0	1	0	0	0	12847	922	32	2	1008	2	PUS3	11	125765618	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	33242378	125765618	9240898	61	4364										
FGF6	2251	broad.mit.edu	37	chr12	4554486	4554486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	tgcagtagagcctccgctgcCgcttgatccccaccaaatag	9	15	0	2			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:4554486C>T	ENST00000228837.2	-	1	294	c.251G>A	c.(250-252)cGg>cAg	p.R84Q		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	84					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|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)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|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 (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CCTCCGCTGCCGCTTGATCCC	0.652																																						ENST00000228837.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(250-252)cGg>cAg		fibroblast growth factor 6							84	74	78					12																	4554486		2203	4300	6503	SO:0001583	missense	2251				angiogenesis|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	growth factor activity	g.chr12:4554486C>T	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"Endogenous ligands"	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.251G>A	12.37:g.4554486C>T	ENSP00000228837:p.Arg84Gln		Somatic					p.R84Q	NM_020996.1	NP_066276.2	WXS	Illumina GAIIx	Phase_I	P10767	FGF6_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)		1	294	-			84					Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	c.251G>A	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966252	0.92855	.	.	ENSG00000111241	ENST00000228837	D	0.84589	-1.87	5.3	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.93910	0.8051	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.95231	0.8342	10	0.87932	D	0	.	14.2222	0.65836	0.0:0.9279:0.0:0.0721	.	84	P10767	FGF6_HUMAN	Q	84	ENSP00000228837:R84Q	ENSP00000228837:R84Q	R	-	2	0	FGF6	4424747	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	1.373000	0.46208	0.655000	0.94253	CGG		0.652	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996		35	79	0	0	0	1	0	35	79					T	4554486	C	T	4554486	3	4	46	1	0	0	0	0	1	0	0	0	5864	652	23	1	387	1	FGF6	12	4554486	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08		4554486	129297409	62	4365										
C12orf35	55196	broad.mit.edu	37	chr12	32138280	32138280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	agctctgagtaataaagcatCgaagaaaatctgtgtgaaaa	9	5	2	3	rs201030838		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:32138280C>T	ENST00000312561.4	+	4	4805	c.4391C>T	c.(4390-4392)tCg>tTg	p.S1464L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1464								p.S1464L(1)									AATAAAGCATCGAAGAAAATC	0.373																																						ENST00000312561.4																			1	Substitution - Missense(1)	p.S1464L(1)	large_intestine(1)								c.(4390-4392)tCg>tTg		KIAA1551		C	LEU/SER	0,4404		0,0,2202	59	63	62		4391	2.1	0	12		62	1,8597		0,1,4298	no	missense	C12orf35	NM_018169.3	145	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	1464/1748	32138280	1,13001	2202	4299	6501	SO:0001583	missense	55196							g.chr12:32138280C>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.4391C>T	12.37:g.32138280C>T	ENSP00000310338:p.Ser1464Leu		Somatic				KIAA1551_ENST00000535596.1_Intron	p.S1464L	NM_018169.3	NP_060639.3	WXS	Illumina GAIIx	Phase_I					4	4805	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.4391C>T	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	9.426	1.084266	0.20309	0.0	1.16E-4	ENSG00000174718	ENST00000312561	T	0.14893	2.47	5.06	2.13	0.27403	.	0.750787	0.11771	N	0.531095	T	0.07773	0.0195	N	0.11756	0.17	0.09310	N	1	B	0.21688	0.059	B	0.15052	0.012	T	0.38972	-0.9636	9	.	.	.	.	4.202	0.10471	0.1577:0.4981:0.0:0.3442	.	1464	Q9HCM1	CL035_HUMAN	L	1464	ENSP00000310338:S1464L	.	S	+	2	0	C12orf35	32029547	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	0.304000	0.19228	0.600000	0.29862	0.557000	0.71058	TCG		0.373	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		5	67	0	0	0	1	0	5	67					T	32138280	C	T	32138280	3	4	46	1	0	0	0	0	1	0	0	0	1684	893	31	1	4393	1	C12orf35	12	32138280	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	27583794	32138280	101713615	63	4366										
LRP1	4035	broad.mit.edu	37	chr12	57581077	57581077	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ctccgtggaaggcctggcctAtcaccgtggctgggacactc	13	14	1	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:57581077A>G	ENST00000243077.3	+	42	7335	c.6869A>G	c.(6868-6870)tAt>tGt	p.Y2290C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2290					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)	GGCCTGGCCTATCACCGTGGC	0.637																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(6868-6870)tAt>tGt		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						81	75	77					12																	57581077		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.chr12:57581077A>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6869A>G	12.37:g.57581077A>G	ENSP00000243077:p.Tyr2290Cys		Somatic					p.Y2290C	NM_002332.2	NP_002323.2	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	42	7335	+			2290					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.6869A>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.938311	0.52972	.	.	ENSG00000123384	ENST00000243077	D	0.91407	-2.84	4.59	4.59	0.56863	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000010	D	0.94902	0.8352	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95349	0.8445	10	0.72032	D	0.01	.	13.094	0.59180	1.0:0.0:0.0:0.0	.	2290	Q07954	LRP1_HUMAN	C	2290	ENSP00000243077:Y2290C	ENSP00000243077:Y2290C	Y	+	2	0	LRP1	55867344	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.106000	0.94253	1.933000	0.56026	0.533000	0.62120	TAT		0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		26	42	0	0	0	1	0	26	42					G	57581077	A	G	57581077	3	3	46	1	0	0	0	0	1	0	0	0	8960	449	16	4	7035	4	LRP1	12	57581077	Missense_Mutation	SNP	A	TCGA-ND-A4W6-01A-11D-A28R-08	25442797	57581077	76270818	64	4367										
OS9	10956	broad.mit.edu	37	chr12	58113962	58113962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	atcaggatctgactgtcctcGagatgaaacgggaaaaccca	10	10	2	3			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:58113962G>A	ENST00000315970.7	+	13	1722	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	OS9_ENST00000389142.5_Intron|OS9_ENST00000257966.8_Intron|OS9_ENST00000439210.2_Intron|OS9_ENST00000413095.2_Intron|OS9_ENST00000389146.6_Missense_Mutation_p.E546K|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000552285.1_Intron|OS9_ENST00000435406.2_Intron|OS9_ENST00000551035.1_Intron	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	561					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GACTGTCCTCGAGATGAAACG	0.602																																						ENST00000315970.7																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21						c.(1681-1683)Gag>Aag		osteosarcoma amplified 9, endoplasmic reticulum lectin							79	79	79					12																	58113962		2203	4300	6503	SO:0001583	missense	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58113962G>A	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1681G>A	12.37:g.58113962G>A	ENSP00000318165:p.Glu561Lys		Somatic				OS9_ENST00000413095.2_Intron|OS9_ENST00000257966.8_Intron|OS9_ENST00000551035.1_Intron|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389142.5_Intron|OS9_ENST00000552285.1_Intron|OS9_ENST00000439210.2_Intron|OS9_ENST00000435406.2_Intron|OS9_ENST00000389146.6_Missense_Mutation_p.E546K	p.E561K	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	WXS	Illumina GAIIx	Phase_I	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		13	1722	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		561					A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	c.1681G>A	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827848	0.90955	.	.	ENSG00000135506	ENST00000315970;ENST00000389146	T;T	0.36157	1.31;1.27	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.35158	0.0922	L	0.27053	0.805	0.80722	D	1	D;D	0.64830	0.994;0.983	P;B	0.49012	0.598;0.307	T	0.13019	-1.0525	10	0.56958	D	0.05	.	15.3374	0.74269	0.0:0.0:1.0:0.0	.	546;561	A6NLB2;Q13438	.;OS9_HUMAN	K	561;546	ENSP00000318165:E561K;ENSP00000373798:E546K	ENSP00000318165:E561K	E	+	1	0	OS9	56400229	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.358000	0.66064	2.599000	0.87857	0.655000	0.94253	GAG		0.602	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		39	85	0	0	0	1	0	39	85					A	58113962	G	A	58113962	3	1	46	1	0	0	0	0	1	0	0	0	11281	1059	37	1	1731	1	OS9	12	58113962	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	532885	58113962	75737933	65	4368										
TPH2	121278	broad.mit.edu	37	chr12	72338371	72338371	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	cactgttttcaacagagctaGaggatgtgccctggttccct	10	11	1	2			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:72338371G>C	ENST00000333850.3	+	4	586	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	149					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)	AACAGAGCTAGAGGATGTGCC	0.433																																						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.(445-447)Gag>Cag		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						147	146	146					12																	72338371		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72338371G>C	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.445G>C	12.37:g.72338371G>C	ENSP00000329093:p.Glu149Gln		Somatic				TPH2_ENST00000546576.1_3'UTR	p.E149Q	NM_173353.3	NP_775489.2	WXS	Illumina GAIIx	Phase_I	Q8IWU9	TPH2_HUMAN			4	586	+			149					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.445G>C	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930696	0.52866	.	.	ENSG00000139287	ENST00000333850;ENST00000266669	D	0.99494	-6.01	5.73	4.84	0.62591	Aromatic amino acid hydroxylase, C-terminal (1);	0.667428	0.15487	N	0.259765	D	0.98695	0.9562	M	0.74389	2.26	0.43555	D	0.995864	B	0.29481	0.245	B	0.24974	0.057	D	0.99918	1.1239	10	0.39692	T	0.17	-19.7069	16.908	0.86133	0.0:0.128:0.872:0.0	.	149	Q8IWU9	TPH2_HUMAN	Q	149	ENSP00000329093:E149Q	ENSP00000266669:E149Q	E	+	1	0	TPH2	70624638	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	6.356000	0.73046	1.433000	0.47394	-0.156000	0.13503	GAG		0.433	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		20	76	0	0	0	1	0	20	76					C	72338371	G	C	72338371	3	2	46	1	0	0	0	0	1	0	0	0	16417	943	33	2	459	2	TPH2	12	72338371	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	14224409	72338371	61513524	66	4369										
USPL1	10208	broad.mit.edu	37	chr13	31233271	31233271	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gatgtttcccagaacacacaTctgagacaggaccataatta	7	10	1	2			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr13:31233271T>C	ENST00000255304.4	+	9	3399	c.3057T>C	c.(3055-3057)caT>caC	p.H1019H		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1019					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGAACACACATCTGAGACAGG	0.418																																					Ovarian(60;318 1180 1554 28110 31601)	ENST00000255304.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34						c.(3055-3057)caT>caC		ubiquitin specific peptidase like 1							116	112	114					13																	31233271		2203	4300	6503	SO:0001819	synonymous_variant	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31233271T>C	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.3057T>C	13.37:g.31233271T>C			Somatic					p.H1019H	NM_005800.4	NP_005791.3	WXS	Illumina GAIIx	Phase_I	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	9	3399	+		Lung SC(185;0.0257)|Breast(139;0.203)	1019					Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	ENST00000255304.4	37	c.3057T>C	CCDS9336.1																																																																																				0.418	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		14	80	0	0	0	1	0	14	80					C	31233271	T	C	31233271	2	2	46	1	0	0	0	0	0	0	0	1	17107	1432	50	4		4	USPL1	13	31233271	Silent	SNP	T	TCGA-ND-A4W6-01A-11D-A28R-08		31233271	83936607	67	4370										
PARP2	10038	broad.mit.edu	37	chr14	20818779	20818779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	tgtttggatgagatggggccGaggtaatgatttttattgag	15	2	0	3			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr14:20818779G>A	ENST00000250416.5	+	5	485	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	PARP2_ENST00000429687.3_Missense_Mutation_p.R140Q|PARP2_ENST00000527915.1_Missense_Mutation_p.R153Q	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	153					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		AGATGGGGCCGAGGTAATGAT	0.413								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000527915.1																			0				central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15						c.(457-459)cGa>cAa	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 2							131	119	122					14																	20818779		1866	4104	5970	SO:0001583	missense	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20818779G>A	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"Poly (ADP-ribose) polymerases"	272	protein-coding gene	gene with protein product		607725	"ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2", "poly (ADP-ribose) polymerase family, member 2"	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.458G>A	14.37:g.20818779G>A	ENSP00000250416:p.Arg153Gln		Somatic				PARP2_ENST00000250416.5_Missense_Mutation_p.R153Q|PARP2_ENST00000429687.3_Missense_Mutation_p.R140Q	p.R153Q			WXS	Illumina GAIIx	Phase_I	Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	5	463	+	all_cancers(95;0.00092)	all_lung(585;0.235)	153					Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	c.458G>A	CCDS41910.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396444	0.96009	.	.	ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915	T;T;T	0.48522	0.81;0.81;0.81	5.25	5.25	0.73442	WGR domain (4);	0.000000	0.85682	D	0.000000	T	0.79924	0.4530	H	0.96943	3.91	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86203	0.1620	10	0.66056	D	0.02	-9.9197	17.7773	0.88513	0.0:0.0:1.0:0.0	.	140;153	Q9UGN5-2;Q9UGN5	.;PARP2_HUMAN	Q	140;153;153	ENSP00000392972:R140Q;ENSP00000250416:R153Q;ENSP00000432283:R153Q	ENSP00000250416:R153Q	R	+	2	0	PARP2	19888619	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.134000	0.89606	2.738000	0.93877	0.655000	0.94253	CGA		0.413	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			8	52	0	0	0	1	0	8	52					A	20818779	G	A	20818779	3	1	46	1	0	0	0	0	1	0	0	0	11470	1058	37	1	476	1	PARP2	14	20818779	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08		20818779	86530761	68	4371										
JPH4	84502	broad.mit.edu	37	chr14	24040296	24040296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gggggcaggggctcttcatcCtccccctcctcctctcgaag	11	17	3	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr14:24040296C>T	ENST00000397118.3	-	6	2546	c.1644G>A	c.(1642-1644)gaG>gaA	p.E548E	JPH4_ENST00000544177.1_Silent_p.E213E|JPH4_ENST00000356300.4_Silent_p.E548E	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	548					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)		GCTCTTCATCCTCCCCCTCCT	0.672																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1642-1644)gaG>gaA		junctophilin 4							70	76	74					14																	24040296		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.chr14:24040296C>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"junctophilin like 1"	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1644G>A	14.37:g.24040296C>T			Somatic				JPH4_ENST00000356300.4_Silent_p.E548E|JPH4_ENST00000544177.1_Silent_p.E213E	p.E548E	NM_032452.2	NP_115828.2	WXS	Illumina GAIIx	Phase_I	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2546	-	all_cancers(95;0.000251)		548					D3DS53|Q8ND44|Q96DQ0	Silent	SNP	ENST00000397118.3	37	c.1644G>A	CCDS9603.1																																																																																				0.672	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		65	61	0	0	0	1	0	65	61					T	24040296	C	T	24040296	2	4	46	1	0	0	0	0	0	0	0	1	7972	680	24	3		3	JPH4	14	24040296	Silent	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	3221517	24040296	83309244	69	4372										
AKAP6	9472	broad.mit.edu	37	chr14	33292748	33292748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	agaaaggcaaaagggaaaacCgaatgtgacttcaaaggtat	11	5	1	2			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr14:33292748C>T	ENST00000280979.4	+	13	5899	c.5729C>T	c.(5728-5730)cCg>cTg	p.P1910L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1910					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)		AAGGGAAAACCGAATGTGACT	0.343																																					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.(5728-5730)cCg>cTg		A kinase (PRKA) anchor protein 6							63	64	64					14																	33292748		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292748C>T	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.5729C>T	14.37:g.33292748C>T	ENSP00000280979:p.Pro1910Leu		Somatic				AKAP6_ENST00000557272.1_Intron	p.P1910L	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	5899	+	Breast(36;0.0388)|Prostate(35;0.15)		1910					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5729C>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.602261	0.00123	.	.	ENSG00000151320	ENST00000280979	T	0.04317	3.65	5.63	-1.74	0.08056	.	0.992465	0.08185	N	0.984855	T	0.02533	0.0077	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47861	-0.9084	10	0.26408	T	0.33	3.6211	2.4538	0.04524	0.1175:0.2847:0.1119:0.4859	.	1910	Q13023	AKAP6_HUMAN	L	1910	ENSP00000280979:P1910L	ENSP00000280979:P1910L	P	+	2	0	AKAP6	32362499	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.063000	0.14410	-0.174000	0.10743	-0.295000	0.09555	CCG		0.343	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		7	26	0	0	0	1	0	7	26					T	33292748	C	T	33292748	3	4	46	1	0	0	0	0	1	0	0	0	455	652	23	1	5775	1	AKAP6	14	33292748	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	9252452	33292748	74056792	70	4373										
C14orf79	122616	broad.mit.edu	37	chr14	105455303	105455303	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	attctcagctatgagaacatTttaaagtgtgcttttcaaga	7	6	2	2			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr14:105455303T>G	ENST00000547315.1	+	2	1086	c.447T>G	c.(445-447)atT>atG	p.I149M	C14orf79_ENST00000549240.1_5'Flank|C14orf79_ENST00000549584.1_3'UTR|C14orf79_ENST00000550614.1_5'UTR	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	149										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)			ATGAGAACATTTTAAAGTGTG	0.373																																						ENST00000547315.1																			0				breast(1)|endometrium(1)|lung(1)	3						c.(445-447)atT>atG		chromosome 14 open reading frame 79							91	86	88					14																	105455303		1854	4090	5944	SO:0001583	missense	122616							g.chr14:105455303T>G		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.447T>G	14.37:g.105455303T>G	ENSP00000450114:p.Ile149Met		Somatic				C14orf79_ENST00000550614.1_5'UTR|C14orf79_ENST00000549584.1_3'UTR	p.I149M	NM_174891.3	NP_777551.2	WXS	Illumina GAIIx	Phase_I	Q96F83	CN079_HUMAN	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)		2	1086	+		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	149					B2RPK9|Q9BTP4	Missense_Mutation	SNP	ENST00000547315.1	37	c.447T>G	CCDS42000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.26|12.26	1.884244|1.884244	0.33255|0.33255	.|.	.|.	ENSG00000140104|ENSG00000140104	ENST00000551606|ENST00000547315	.|.	.|.	.|.	4.53|4.53	3.35|3.35	0.38373|0.38373	.|.	.|0.567142	.|0.13837	.|N	.|0.359336	T|T	0.63965|0.63965	0.2556|0.2556	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.64776	.|0.929	T|T	0.60459|0.60459	-0.7259|-0.7259	5|9	.|0.72032	.|D	.|0.01	-4.0891|-4.0891	7.3387|7.3387	0.26625|0.26625	0.1952:0.0:0.0:0.8048|0.1952:0.0:0.0:0.8048	.|.	.|149	.|Q96F83	.|CN079_HUMAN	C|M	43|149	.|.	.|ENSP00000374614:I149M	F|I	+|+	2|3	0|3	C14orf79|C14orf79	104526348|104526348	0.958000|0.958000	0.32768|0.32768	0.136000|0.136000	0.22124|0.22124	0.188000|0.188000	0.23474|0.23474	0.405000|0.405000	0.21015|0.21015	0.592000|0.592000	0.29728|0.29728	0.456000|0.456000	0.33151|0.33151	TTT|ATT		0.373	C14orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409318.1	NM_174891		6	32	0	0	0	1	0	6	32					G	105455303	T	G	105455303	3	3	46	1	0	0	0	0	1	0	0	0	1782	1829	64	4	453	4	C14orf79	14	105455303	Missense_Mutation	SNP	T	TCGA-ND-A4W6-01A-11D-A28R-08	72162555	105455303	1894237	71	4374										
PLA2G4D	283748	broad.mit.edu	37	chr15	42374009	42374009	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ccttaccagccctctgccttGagctgcagcctcactcctgg	8	18	2	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr15:42374009G>C	ENST00000290472.3	-	10	901	c.807C>G	c.(805-807)ctC>ctG	p.L269L		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	269					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCTCTGCCTTGAGCTGCAGCC	0.587																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(805-807)ctC>ctG		phospholipase A2, group IVD (cytosolic)							113	113	113					15																	42374009		2203	4299	6502	SO:0001819	synonymous_variant	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42374009G>C	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.807C>G	15.37:g.42374009G>C			Somatic					p.L269L	NM_178034.3	NP_828848.3	WXS	Illumina GAIIx	Phase_I	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	10	901	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	269					Q8N176	Silent	SNP	ENST00000290472.3	37	c.807C>G	CCDS32203.1																																																																																				0.587	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		57	83	0	0	0	1	0	57	83					C	42374009	G	C	42374009	2	2	46	1	0	0	0	0	0	0	0	1	12013	1277	45	2		2	PLA2G4D	15	42374009	Silent	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08		42374009	60157383	72	4375										
PRTG	283659	broad.mit.edu	37	chr15	55931950	55931950	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ggcctcctccagtgcaggaaGatggaagatgaggtgttagc	15	8	0	3			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr15:55931950G>C	ENST00000389286.4	-	13	2261	c.2214C>G	c.(2212-2214)atC>atG	p.I738M		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGTGCAGGAAGATGGAAGATG	0.488																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(2212-2214)atC>atG		protogenin							168	182	177					15																	55931950		2071	4200	6271	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55931950G>C	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2214C>G	15.37:g.55931950G>C	ENSP00000373937:p.Ile738Met		Somatic					p.I738M	NM_173814.4	NP_776175.2	WXS	Illumina GAIIx	Phase_I	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	13	2261	-			738			Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000389286.4	37	c.2214C>G	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843514	0.71488	.	.	ENSG00000166450	ENST00000389286	T	0.59772	0.24	5.81	3.94	0.45596	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.134566	0.51477	D	0.000084	T	0.60143	0.2246	M	0.66439	2.03	0.80722	D	1	P	0.50819	0.939	P	0.49799	0.622	T	0.61584	-0.7033	10	0.87932	D	0	-17.6855	6.7351	0.23405	0.1444:0.0:0.7111:0.1444	.	738	Q2VWP7	PRTG_HUMAN	M	738	ENSP00000373937:I738M	ENSP00000373937:I738M	I	-	3	3	PRTG	53719242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.346000	0.33964	0.793000	0.33875	0.655000	0.94253	ATC		0.488	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		43	42	0	0	0	1	0	43	42					C	55931950	G	C	55931950	3	2	46	1	0	0	0	0	1	0	0	0	12650	932	33	2	1270	2	PRTG	15	55931950	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	13557941	55931950	46599442	73	4376										
ALG1	56052	broad.mit.edu	37	chr16	5122951	5122951	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gggatcattctcatttttcaGactccaaaccccatgatgag	7	11	3	3			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr16:5122951G>T	ENST00000262374.5	+	2	239		c.e2-1		ALG1_ENST00000544428.1_Splice_Site|ALG1_ENST00000588623.1_Splice_Site	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|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)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TCATTTTTCAGACTCCAAACC	0.438																																						ENST00000588623.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.e3-1		ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase							129	134	132					16																	5122951		2197	4300	6497	SO:0001630	splice_region_variant	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5122951G>T	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"Glycosyltransferase group 1 domain containing"	18294	protein-coding gene	gene with protein product		605907	"asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)", "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.209-1G>T	16.37:g.5122951G>T			Somatic				ALG1_ENST00000544428.1_Splice_Site|ALG1_ENST00000262374.5_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9BT22	ALG1_HUMAN			3	975	+		Ovarian(90;0.0164)						B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Splice_Site	SNP	ENST00000262374.5	37		CCDS10528.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768398	0.69878	.	.	ENSG00000033011	ENST00000262374	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0356	0.80625	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALG1	5062952	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.878000	0.75567	2.428000	0.82296	0.561000	0.74099	.		0.438	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109	Intron	6	75	1	0	0.00198382	1	0.00206446	6	75					T	5122951	G	T	5122951	5	4	46	1	0	0	0	0	0	0	1	0	510	956	33	2	214	2	ALG1	16	5122951	Splice_Site	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08		5122951	85231802	74	4377										
CDH16	1014	broad.mit.edu	37	chr16	66944333	66944333	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gggagggcacaggggcaagaGtcagggctggggcaggaggg	24	6	1	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr16:66944333G>C	ENST00000299752.4	-	15	2190	c.1997C>G	c.(1996-1998)aCt>aGt	p.T666S	CDH16_ENST00000568632.1_Missense_Mutation_p.T569S|CDH16_ENST00000565796.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.T644S|CDH16_ENST00000570262.1_Missense_Mutation_p.T586S	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	666	Ectodomain G.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AGGGGCAAGAGTCAGGGCTGG	0.637																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1996-1998)aCt>aGt		cadherin 16, KSP-cadherin							91	98	96					16																	66944333		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66944333G>C	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1997C>G	16.37:g.66944333G>C	ENSP00000299752:p.Thr666Ser		Somatic				CDH16_ENST00000565796.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.T644S|CDH16_ENST00000570262.1_Missense_Mutation_p.T586S|CDH16_ENST00000568632.1_Missense_Mutation_p.T569S	p.T666S	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	WXS	Illumina GAIIx	Phase_I	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	15	2190	-		Ovarian(137;0.0563)	666			Ectodomain G.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1997C>G	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526676	0.27299	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.57107	0.42;0.57	4.61	0.144	0.14824	.	1.016110	0.07857	N	0.965607	T	0.40956	0.1138	L	0.44542	1.39	0.09310	N	1	B;B;B	0.27229	0.137;0.172;0.085	B;B;B	0.28011	0.085;0.039;0.039	T	0.38156	-0.9674	10	0.40728	T	0.16	0.0734	3.94	0.09323	0.308:0.1789:0.5131:0.0	.	644;666;666	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	S	644;666;630	ENSP00000377619:T644S;ENSP00000299752:T666S	ENSP00000299752:T666S	T	-	2	0	CDH16	65501834	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	0.284000	0.18864	0.550000	0.28991	0.455000	0.32223	ACT		0.637	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		50	35	0	0	0	1	0	50	35					C	66944333	G	C	66944333	3	2	46	1	0	0	0	0	1	0	0	0	3103	1029	36	5	508	5	CDH16	16	66944333	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	61821382	66944333	23410420	75	4378										
AP1G1	164	broad.mit.edu	37	chr16	71823359	71823359	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	cggatggtccggatcagctcCcgcaatctgatgggggctgg	16	11	2	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr16:71823359C>A	ENST00000299980.4	-	2	465	c.24G>T	c.(22-24)cgG>cgT	p.R8R	AP1G1_ENST00000393512.3_Silent_p.R8R|AP1G1_ENST00000569748.1_Silent_p.R8R|AP1G1_ENST00000433195.2_Silent_p.R31R|AP1G1_ENST00000423132.2_Silent_p.R8R|AP1G1_ENST00000570297.1_5'UTR	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	8					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)				GGATCAGCTCCCGCAATCTGA	0.453																																						ENST00000299980.4																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.(22-24)cgG>cgT		adaptor-related protein complex 1, gamma 1 subunit							95	83	87					16																	71823359		2198	4300	6498	SO:0001819	synonymous_variant	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.chr16:71823359C>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.24G>T	16.37:g.71823359C>A			Somatic				AP1G1_ENST00000569748.1_Silent_p.R8R|AP1G1_ENST00000433195.2_Silent_p.R31R|AP1G1_ENST00000423132.2_Silent_p.R8R|AP1G1_ENST00000393512.3_Silent_p.R8R|AP1G1_ENST00000570297.1_5'UTR	p.R8R	NM_001128.5	NP_001119.3	WXS	Illumina GAIIx	Phase_I	O43747	AP1G1_HUMAN			2	465	-		Ovarian(137;0.125)	8					O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	ENST00000299980.4	37	c.24G>T	CCDS32480.1																																																																																				0.453	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			12	26	1	0	6.53275e-17	1	7.20855e-17	12	26					A	71823359	C	A	71823359	2	1	46	1	0	0	0	0	0	0	0	1	732	610	22	5		5	AP1G1	16	71823359	Silent	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	4879026	71823359	18531394	76	4379										
TP53	7157	broad.mit.edu	37	chr17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ggttcatgccgcccatgcagGaactgttacacatgtagttg	11	10	1	0	rs397516437|rs28934573		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:7577559G>T	ENST00000269305.4	-	7	911	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000420246.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> 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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCCATGCAGGAACTGTTACA	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"		160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920673	TP53	M	rs28934573	c.(721-723)tCc>tAc	Other conserved DNA damage response genes	tumor protein p53							139	108	118					17																	7577559		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.chr17:7577559G>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.722C>A	17.37:g.7577559G>T	ENSP00000269305:p.Ser241Tyr	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.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000269305.4_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y	p.S241Y	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	854	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	241		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.722C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341685	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.52501	D	0.999952	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	0.96551	0.9408	10	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	.	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241Y;ENSP00000352610:S241Y;ENSP00000269305:S241Y;ENSP00000398846:S241Y;ENSP00000391127:S241Y;ENSP00000391478:S241Y;ENSP00000425104:S109Y;ENSP00000423862:S148Y	ENSP00000269305:S241Y	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	24	1	0	4.22769e-11	1	4.62517e-11	26	24					T	7577559	G	T	7577559	3	4	46	1	0	0	0	0	1	0	0	0	16396	1174	41	2	568	2	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08		7577559	73617651	77	4380										
MYH2	4620	broad.mit.edu	37	chr17	10432392	10432392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	cctcctccagctcctcaatgCgggcctgggaatggtggaaa	12	13	1	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:10432392C>T	ENST00000245503.5	-	27	3743	c.3359G>A	c.(3358-3360)cGc>cAc	p.R1120H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1120H|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1120					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						CTCCTCAATGCGGGCCTGGGA	0.532																																						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.(3358-3360)cGc>cAc		myosin, heavy chain 2, skeletal muscle, adult							41	46	44					17																	10432392		2202	4300	6502	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432392C>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.3359G>A	17.37:g.10432392C>T	ENSP00000245503:p.Arg1120His		Somatic				CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1120H|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA	p.R1120H	NM_017534.5	NP_060004.3	WXS	Illumina GAIIx	Phase_I	Q9UKX2	MYH2_HUMAN			27	3743	-			1120					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3359G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601167	0.87055	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83837	-1.77;-1.77	5.09	5.09	0.68999	Myosin tail (1);	0.000000	0.40144	U	0.001168	D	0.91868	0.7426	M	0.86268	2.805	0.80722	D	1	D	0.65815	0.995	D	0.68353	0.957	D	0.92799	0.6255	10	0.72032	D	0.01	.	18.6832	0.91554	0.0:1.0:0.0:0.0	.	1120	Q9UKX2	MYH2_HUMAN	H	1120	ENSP00000245503:R1120H;ENSP00000380367:R1120H	ENSP00000245503:R1120H	R	-	2	0	MYH2	10373117	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.650000	0.67944	2.660000	0.90430	0.591000	0.81541	CGC		0.532	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		35	19	0	0	0	1	0	35	19					T	10432392	C	T	10432392	3	4	46	1	0	0	0	0	1	0	0	0	10044	768	27	1	2522	1	MYH2	17	10432392	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	2854833	10432392	70762818	78	4381										
TMUB2	79089	broad.mit.edu	37	chr17	42268225	42268225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	cctagtatttgggatgtatgGacgataaggacataggaaga	13	4	0	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:42268225G>A	ENST00000587989.1	+	4	1112	c.959G>A	c.(958-960)gGa>gAa	p.G320E	TMUB2_ENST00000589785.1_Missense_Mutation_p.G300E|TMUB2_ENST00000446571.3_Missense_Mutation_p.G263E|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000319511.6_Missense_Mutation_p.G300E|TMUB2_ENST00000357984.3_Missense_Mutation_p.G300E|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000538716.2_Missense_Mutation_p.G320E|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000589184.1_3'UTR			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	320						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGGATGTATGGACGATAAGGA	0.527																																						ENST00000319511.6																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8						c.(898-900)gGa>gAa		transmembrane and ubiquitin-like domain containing 2							116	114	114					17																	42268225		2203	4300	6503	SO:0001583	missense	79089					integral to membrane		g.chr17:42268225G>A		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.959G>A	17.37:g.42268225G>A	ENSP00000466971:p.Gly320Glu		Somatic				TMUB2_ENST00000587989.1_Missense_Mutation_p.G320E|TMUB2_ENST00000538716.2_Missense_Mutation_p.G320E|TMUB2_ENST00000446571.3_Missense_Mutation_p.G263E|TMUB2_ENST00000357984.3_Missense_Mutation_p.G300E|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.G300E|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000589184.1_3'UTR	p.G300E	NM_177441.2	NP_803190.2	WXS	Illumina GAIIx	Phase_I	Q71RG4	TMUB2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	1549	+		Breast(137;0.00765)|Prostate(33;0.0181)	320					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	c.899G>A	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957798	0.73902	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.44083	0.98;0.95;0.93;0.95	5.41	4.42	0.53409	.	0.367857	0.30428	N	0.009648	T	0.44074	0.1276	L	0.47716	1.5	0.41806	D	0.989942	D;P;D	0.59767	0.961;0.835;0.986	B;P;P	0.48304	0.36;0.466;0.573	T	0.41052	-0.9530	10	0.40728	T	0.16	-19.8438	14.9931	0.71406	0.0:0.1436:0.8564:0.0	.	263;300;320	E7ESS3;Q71RG4-2;Q71RG4	.;.;TMUB2_HUMAN	E	263;300;320;300	ENSP00000413127:G263E;ENSP00000350672:G300E;ENSP00000444565:G320E;ENSP00000313214:G300E	ENSP00000313214:G300E	G	+	2	0	TMUB2	39623751	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.244000	0.72391	1.484000	0.48361	0.555000	0.69702	GGA		0.527	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		44	112	0	0	0	1	0	44	112					A	42268225	G	A	42268225	3	1	46	1	0	0	0	0	1	0	0	0	16280	1174	41	3	969	3	TMUB2	17	42268225	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	31835833	42268225	38926985	79	4382										
SLC16A5	9121	broad.mit.edu	37	chr17	73096220	73096220	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gtctccctgggcatcaccctCtggccgctgctctcccgcta	9	19	4	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73096220C>T	ENST00000450736.2	+	4	877	c.462C>T	c.(460-462)ctC>ctT	p.L154L	SLC16A5_ENST00000580123.1_Silent_p.L154L|SLC16A5_ENST00000538213.2_Silent_p.L194L|SLC16A5_ENST00000329783.4_Silent_p.L154L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	154					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GCATCACCCTCTGGCCGCTGC	0.647																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(460-462)ctC>ctT		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						43	42	42					17																	73096220		2203	4300	6503	SO:0001819	synonymous_variant	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096220C>T	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.462C>T	17.37:g.73096220C>T			Somatic				SLC16A5_ENST00000538213.2_Silent_p.L194L|SLC16A5_ENST00000580123.1_Silent_p.L154L|SLC16A5_ENST00000329783.4_Silent_p.L154L	p.L154L			WXS	Illumina GAIIx	Phase_I	O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		4	877	+	all_lung(278;0.226)		154					B4E288	Silent	SNP	ENST00000450736.2	37	c.462C>T	CCDS11713.1																																																																																				0.647	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		13	45	0	0	0	1	0	13	45					T	73096220	C	T	73096220	2	4	46	1	0	0	0	0	0	0	0	1	14426	900	32	3		3	SLC16A5	17	73096220	Silent	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	30827995	73096220	8098990	80	4383			1	6		5	5	4009	C		1.157001e-09
SLC16A5	9121	broad.mit.edu	37	chr17	73096514	73096514	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	atgtggtccgtcctgggcttCccactgccacaagtcttcct	9	15	1	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73096514C>T	ENST00000450736.2	+	4	1171	c.756C>T	c.(754-756)ttC>ttT	p.F252F	SLC16A5_ENST00000580123.1_Silent_p.F252F|SLC16A5_ENST00000538213.2_Silent_p.F292F|SLC16A5_ENST00000329783.4_Silent_p.F252F			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	252					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.F252L(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TCCTGGGCTTCCCACTGCCAC	0.607																																						ENST00000450736.2																			2	Substitution - Missense(2)	p.F252L(2)	cervix(2)	central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(754-756)ttC>ttT		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						304	246	266					17																	73096514		2203	4300	6503	SO:0001819	synonymous_variant	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096514C>T	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.756C>T	17.37:g.73096514C>T			Somatic				SLC16A5_ENST00000538213.2_Silent_p.F292F|SLC16A5_ENST00000580123.1_Silent_p.F252F|SLC16A5_ENST00000329783.4_Silent_p.F252F	p.F252F			WXS	Illumina GAIIx	Phase_I	O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		4	1171	+	all_lung(278;0.226)		252					B4E288	Silent	SNP	ENST00000450736.2	37	c.756C>T	CCDS11713.1																																																																																				0.607	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		17	52	0	0	0	1	0	17	52					T	73096514	C	T	73096514	2	4	46	1	0	0	0	0	0	0	0	1	14426	854	30	3		3	SLC16A5	17	73096514	Silent	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	294	73096514	8098696	81	4384			1	6		5	5	4009	C		1.157001e-09
SLC16A5	9121	broad.mit.edu	37	chr17	73096694	73096694	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	tacctgttcagcctggcactCctgctcaatgggctcactaa	8	14	3	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73096694C>G	ENST00000450736.2	+	4	1351	c.936C>G	c.(934-936)ctC>ctG	p.L312L	SLC16A5_ENST00000580123.1_Silent_p.L312L|SLC16A5_ENST00000538213.2_Silent_p.L352L|SLC16A5_ENST00000329783.4_Silent_p.L312L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	312					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GCCTGGCACTCCTGCTCAATG	0.612																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(934-936)ctC>ctG		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						624	544	571					17																	73096694		2203	4300	6503	SO:0001819	synonymous_variant	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096694C>G	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.936C>G	17.37:g.73096694C>G			Somatic				SLC16A5_ENST00000538213.2_Silent_p.L352L|SLC16A5_ENST00000580123.1_Silent_p.L312L|SLC16A5_ENST00000329783.4_Silent_p.L312L	p.L312L			WXS	Illumina GAIIx	Phase_I	O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		4	1351	+	all_lung(278;0.226)		312					B4E288	Silent	SNP	ENST00000450736.2	37	c.936C>G	CCDS11713.1																																																																																				0.612	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		26	113	0	0	0	1	0	26	113					G	73096694	C	G	73096694	2	3	46	1	0	0	0	0	0	0	0	1	14426	842	30	2		2	SLC16A5	17	73096694	Silent	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	180	73096694	8098516	82	4385			1	6		5	5	4009	C		1.157001e-09
SLC16A5	9121	broad.mit.edu	37	chr17	73096839	73096839	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	tggacatcgtccccatggatCagttccccagagccctggga	11	14	1	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73096839C>T	ENST00000450736.2	+	4	1496	c.1081C>T	c.(1081-1083)Cag>Tag	p.Q361*	SLC16A5_ENST00000580123.1_Nonsense_Mutation_p.Q361*|SLC16A5_ENST00000538213.2_Nonsense_Mutation_p.Q401*|SLC16A5_ENST00000329783.4_Nonsense_Mutation_p.Q361*			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	361					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CCCCATGGATCAGTTCCCCAG	0.627																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1081-1083)Cag>Tag		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						124	105	111					17																	73096839		2203	4300	6503	SO:0001587	stop_gained	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096839C>T	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1081C>T	17.37:g.73096839C>T	ENSP00000390564:p.Gln361*		Somatic				SLC16A5_ENST00000538213.2_Nonsense_Mutation_p.Q401*|SLC16A5_ENST00000580123.1_Nonsense_Mutation_p.Q361*|SLC16A5_ENST00000329783.4_Nonsense_Mutation_p.Q361*	p.Q361*			WXS	Illumina GAIIx	Phase_I	O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		4	1496	+	all_lung(278;0.226)		361					B4E288	Nonsense_Mutation	SNP	ENST00000450736.2	37	c.1081C>T	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385002	0.82792	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	.	.	.	4.63	3.58	0.41010	.	0.109306	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	13.5292	0.61613	0.2536:0.7464:0.0:0.0	.	.	.	.	X	361;361;401	.	ENSP00000330141:Q361X	Q	+	1	0	SLC16A5	70608434	0.464000	0.25807	0.933000	0.37362	0.212000	0.24457	1.177000	0.31969	2.292000	0.77174	0.561000	0.74099	CAG		0.627	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		15	49	0	0	0	1	0	15	49					T	73096839	C	T	73096839	4	4	46	1	0	0	0	0	0	1	0	0	14426	827	29	3	1091	3	SLC16A5	17	73096839	Nonsense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	145	73096839	8098371	83	4386			1	6		5	5	4009	C		1.157001e-09
SLC16A5	9121	broad.mit.edu	37	chr17	73100228	73100228	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gccctggagcgggatcttttCttggaagccaaagacggtcc	13	11	2	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73100228C>G	ENST00000450736.2	+	5	1732	c.1317C>G	c.(1315-1317)ttC>ttG	p.F439L	SLC16A5_ENST00000580123.1_Missense_Mutation_p.F439L|SLC16A5_ENST00000538213.2_Missense_Mutation_p.F479L|SLC16A5_ENST00000329783.4_Missense_Mutation_p.F439L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	439					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GGGATCTTTTCTTGGAAGCCA	0.572																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1315-1317)ttC>ttG		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						60	54	56					17																	73100228		2203	4300	6503	SO:0001583	missense	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73100228C>G	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1317C>G	17.37:g.73100228C>G	ENSP00000390564:p.Phe439Leu		Somatic				SLC16A5_ENST00000538213.2_Missense_Mutation_p.F479L|SLC16A5_ENST00000580123.1_Missense_Mutation_p.F439L|SLC16A5_ENST00000329783.4_Missense_Mutation_p.F439L	p.F439L			WXS	Illumina GAIIx	Phase_I	O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		5	1732	+	all_lung(278;0.226)		439					B4E288	Missense_Mutation	SNP	ENST00000450736.2	37	c.1317C>G	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	C	5.836	0.338391	0.11069	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.05258	3.47;3.47;3.51	5.2	-3.57	0.04612	.	31.338400	0.00166	N	0.000000	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.13407	0.009;0.008	T	0.34950	-0.9808	10	0.12430	T	0.62	.	1.0991	0.01680	0.3099:0.3723:0.1015:0.2162	.	479;439	B4E288;O15375	.;MOT6_HUMAN	L	439;439;479	ENSP00000330141:F439L;ENSP00000390564:F439L;ENSP00000440212:F479L	ENSP00000330141:F439L	F	+	3	2	SLC16A5	70611823	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.469000	0.06648	-0.818000	0.04329	-0.142000	0.14014	TTC		0.572	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		15	65	0	0	0	1	0	15	65					G	73100228	C	G	73100228	3	3	46	1	0	0	0	0	1	0	0	0	14426	912	32	2	1331	2	SLC16A5	17	73100228	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	3389	73100228	8094982	84	4387			1	6		5	5	4009	C		1.157001e-09
SERPINB8	5271	broad.mit.edu	37	chr18	61654204	61654204	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ttttccttcccagattaaagCtggaggagagttatgacttg	10	7	0	3			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr18:61654204C>T	ENST00000397985.2	+	7	1073	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	SERPINB8_ENST00000353706.2_Silent_p.L273L|SERPINB8_ENST00000542677.1_Silent_p.L91L|SERPINB8_ENST00000493661.1_Intron	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	273					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)				CAGATTAAAGCTGGAGGAGAG	0.398																																						ENST00000397985.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17						c.(817-819)Ctg>Ttg		serpin peptidase inhibitor, clade B (ovalbumin), member 8							97	99	98					18																	61654204		2203	4300	6503	SO:0001819	synonymous_variant	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61654204C>T	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.817C>T	18.37:g.61654204C>T			Somatic				SERPINB8_ENST00000542677.1_Silent_p.L91L|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000353706.2_Silent_p.L273L	p.L273L	NM_001276490.1	NP_001263419.1	WXS	Illumina GAIIx	Phase_I	P50452	SPB8_HUMAN			7	1073	+		Esophageal squamous(42;0.129)	273					B4DTW2|Q7Z2V6|Q8N178	Silent	SNP	ENST00000397985.2	37	c.817C>T	CCDS11991.1																																																																																				0.398	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		19	53	0	0	0	1	0	19	53					T	61654204	C	T	61654204	2	4	46	1	0	0	0	0	0	0	0	1	14122	796	28	3		3	SERPINB8	18	61654204	Silent	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08		61654204	16423044	85	4388										
AKAP8	10270	broad.mit.edu	37	chr19	15472610	15472610	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	tgacgccgcttctcaattttCttatttctgtttacaatgta	5	9	3	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr19:15472610C>G	ENST00000269701.2	-	11	1386	c.1326G>C	c.(1324-1326)aaG>aaC	p.K442N		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	442					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						TCTCAATTTTCTTATTTCTGT	0.453																																					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.(1324-1326)aaG>aaC		A kinase (PRKA) anchor protein 8							120	111	114					19																	15472610		2203	4300	6503	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15472610C>G	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.1326G>C	19.37:g.15472610C>G	ENSP00000269701:p.Lys442Asn		Somatic					p.K442N	NM_005858.3	NP_005849.1	WXS	Illumina GAIIx	Phase_I	O43823	AKAP8_HUMAN			11	1386	-			442						Missense_Mutation	SNP	ENST00000269701.2	37	c.1326G>C	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245819	0.59103	.	.	ENSG00000105127	ENST00000269701;ENST00000537303	T	0.56611	0.45	5.82	4.79	0.61399	.	0.000000	0.64402	D	0.000009	T	0.65893	0.2735	L	0.52905	1.665	0.42787	D	0.993885	D;D	0.76494	0.999;0.999	D;D	0.65874	0.939;0.939	T	0.69907	-0.5018	10	0.87932	D	0	-46.6282	13.5996	0.62011	0.0:0.9246:0.0:0.0754	.	442;442	Q8NE02;O43823	.;AKAP8_HUMAN	N	442;191	ENSP00000269701:K442N	ENSP00000269701:K442N	K	-	3	2	AKAP8	15333610	1.000000	0.71417	1.000000	0.80357	0.355000	0.29361	1.927000	0.40094	1.464000	0.47987	0.557000	0.71058	AAG		0.453	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		26	21	0	0	0	1	0	26	21					G	15472610	C	G	15472610	3	3	46	1	0	0	0	0	1	0	0	0	457	912	32	2	768	2	AKAP8	19	15472610	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08		15472610	43656373	86	4389										
ZNF283	284349	broad.mit.edu	37	chr19	44352095	44352095	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gtcgtggctatcacctttctCaacatcagaaaatccatact	5	12	3	1	rs186025400	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr19:44352095C>T	ENST00000324461.7	+	7	1639	c.1342C>T	c.(1342-1344)Caa>Taa	p.Q448*	ZNF283_ENST00000588797.1_Nonsense_Mutation_p.Q309*	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	448					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(3)|lung(4)	8		Prostate(69;0.0352)				TCACCTTTCTCAACATCAGAA	0.393																																						ENST00000324461.7																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(1342-1344)Caa>Taa		zinc finger protein 283							77	86	83					19																	44352095		2196	4296	6492	SO:0001587	stop_gained	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44352095C>T	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.1342C>T	19.37:g.44352095C>T	ENSP00000327314:p.Gln448*		Somatic				ZNF283_ENST00000588797.1_Nonsense_Mutation_p.Q309*	p.Q448*	NM_181845.1	NP_862828.1	WXS	Illumina GAIIx	Phase_I	Q8N7M2	ZN283_HUMAN			7	1639	+		Prostate(69;0.0352)	448					B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Nonsense_Mutation	SNP	ENST00000324461.7	37	c.1342C>T	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388493	0.61956	.	.	ENSG00000167637	ENST00000324461	.	.	.	3.04	-1.04	0.10068	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	6.6279	0.22841	0.3024:0.399:0.2986:0.0	.	.	.	.	X	448	.	ENSP00000327314:Q448X	Q	+	1	0	ZNF283	49043935	0.000000	0.05858	0.511000	0.27724	0.199000	0.23934	-5.405000	0.00125	0.118000	0.18165	0.455000	0.32223	CAA		0.393	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		39	58	0	0	0	1	0	39	58					T	44352095	C	T	44352095	4	4	46	1	0	0	0	0	0	1	0	0	17835	827	29	3	1356	3	ZNF283	19	44352095	Nonsense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	28879485	44352095	14776888	87	4390										
SFRS16	11129	broad.mit.edu	37	chr19	45561130	45561130	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	cgaggaggagagcaactcggAcgaagatgaggtcatccccg	15	10	1	3			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr19:45561130A>T	ENST00000221455.3	+	7	685	c.587A>T	c.(586-588)gAc>gTc	p.D196V	CLASRP_ENST00000544944.2_Missense_Mutation_p.D196V|CLASRP_ENST00000391953.4_Missense_Mutation_p.D134V	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	196					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						AGCAACTCGGACGAAGATGAG	0.612																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(586-588)gAc>gTc		CLK4-associating serine/arginine rich protein							170	110	131					19																	45561130		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45561130A>T	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.587A>T	19.37:g.45561130A>T	ENSP00000221455:p.Asp196Val		Somatic				CLASRP_ENST00000391953.4_Missense_Mutation_p.D134V|CLASRP_ENST00000221455.3_Missense_Mutation_p.D196V	p.D196V			WXS	Illumina GAIIx	Phase_I	Q8N2M8	CLASR_HUMAN			6	1279	+			196					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.587A>T	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	A	26.8	4.773392	0.90108	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.67345	0.51;0.54;-0.26;0.55	5.48	5.48	0.80851	.	0.000000	0.37261	U	0.002169	T	0.71256	0.3318	L	0.38175	1.15	0.80722	D	1	D;D;D	0.67145	0.995;0.981;0.996	P;P;P	0.61003	0.882;0.791;0.806	T	0.73767	-0.3879	10	0.59425	D	0.04	-21.8176	13.5244	0.61586	1.0:0.0:0.0:0.0	.	134;196;196	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	V	196;196;134;196	ENSP00000221455:D196V;ENSP00000375814:D196V;ENSP00000375815:D134V;ENSP00000438702:D196V	ENSP00000221455:D196V	D	+	2	0	CLASRP	50252970	1.000000	0.71417	0.950000	0.38849	0.945000	0.59286	8.585000	0.90802	2.086000	0.62901	0.455000	0.32223	GAC		0.612	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		30	40	0	0	0	1	0	30	40					T	45561130	A	T	45561130	3	4	46	1	0	0	0	0	1	0	0	0	14187	275	10	4	609	4	SFRS16	19	45561130	Missense_Mutation	SNP	A	TCGA-ND-A4W6-01A-11D-A28R-08	1209035	45561130	13567853	88	4391										
ZNF749	388567	broad.mit.edu	37	chr19	57953359	57953359	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	caatgtgatgttggagaactTtgcgcttttgtcatcagtag	11	6	2	2			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr19:57953359T>A	ENST00000334181.4	+	2	372	c.122T>A	c.(121-123)tTt>tAt	p.F41Y	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	41	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(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)		TTGGAGAACTTTGCGCTTTTG	0.458																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(121-123)tTt>tAt		zinc finger protein 749							224	226	225					19																	57953359		2100	4248	6348	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57953359T>A	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.122T>A	19.37:g.57953359T>A	ENSP00000333980:p.Phe41Tyr		Somatic				AC004076.9_ENST00000596831.1_Intron	p.F41Y	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)	2	372	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	41			KRAB.			Missense_Mutation	SNP	ENST00000334181.4	37	c.122T>A	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	T	4.769	0.142906	0.09083	.	.	ENSG00000186230	ENST00000334181	T	0.01347	4.99	1.94	1.94	0.25998	Krueppel-associated box (4);	.	.	.	.	T	0.01387	0.0045	N	0.03304	-0.355	0.09310	N	0.999998	D	0.59767	0.986	D	0.66602	0.945	T	0.41305	-0.9516	9	0.02654	T	1	.	5.89	0.18904	0.0:0.0:0.0:1.0	.	41	O43361	ZN749_HUMAN	Y	41	ENSP00000333980:F41Y	ENSP00000333980:F41Y	F	+	2	0	ZNF749	62645171	0.003000	0.15002	0.027000	0.17364	0.826000	0.46750	0.646000	0.24797	1.139000	0.42245	0.254000	0.18369	TTT		0.458	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		9	224	0	0	0	1	0	9	224					A	57953359	T	A	57953359	3	1	46	1	0	0	0	0	1	0	0	0	18146	1841	64	4	128	4	ZNF749	19	57953359	Missense_Mutation	SNP	T	TCGA-ND-A4W6-01A-11D-A28R-08	12392229	57953359	1175624	89	4392										
PREX1	57580	broad.mit.edu	37	chr20	47269915	47269915	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	ttaccagggcctcttcgcgcCgactccggaatgcctggaag	12	14	1	0	rs368578845		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr20:47269915C>T	ENST00000371941.3	-	20	2352	c.2330G>A	c.(2329-2331)cGg>cAg	p.R777Q	PREX1_ENST00000396220.1_Missense_Mutation_p.R777Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	777					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)			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)			CTCTTCGCGCCGACTCCGGAA	0.582																																						ENST00000396220.1																			0				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.(2329-2331)cGg>cAg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							82	84	83					20																	47269915		2203	4300	6503	SO:0001583	missense	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.chr20:47269915C>T	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.2330G>A	20.37:g.47269915C>T	ENSP00000361009:p.Arg777Gln		Somatic				PREX1_ENST00000371941.3_Missense_Mutation_p.R777Q	p.R777Q			WXS	Illumina GAIIx	Phase_I	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		20	2352	-			777					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.2330G>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.706348	0.30232	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.37235	1.21;1.21	5.12	-1.54	0.08584	PDZ/DHR/GLGF (1);	1.252740	0.06178	U	0.678964	T	0.23572	0.0570	N	0.20986	0.625	0.09310	N	1	B;P	0.37573	0.342;0.6	B;B	0.30495	0.044;0.116	T	0.30208	-0.9986	10	0.66056	D	0.02	.	11.3484	0.49573	0.0:0.5968:0.0:0.4032	.	777;74	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	Q	777	ENSP00000361009:R777Q;ENSP00000379522:R777Q	ENSP00000361009:R777Q	R	-	2	0	PREX1	46703322	0.000000	0.05858	0.007000	0.13788	0.266000	0.26442	-0.941000	0.03925	-0.288000	0.09051	0.462000	0.41574	CGG		0.582	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		65	118	0	0	0	1	0	65	118					T	47269915	C	T	47269915	3	4	46	1	0	0	0	0	1	0	0	0	12488	652	23	1	2733	1	PREX1	20	47269915	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08		47269915	15755605	90	4393										
SLCO4A1	28231	broad.mit.edu	37	chr20	61288206	61288206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	tcatcacctccctggagcgcCgctatgacctgcacagctac	8	17	2	1	rs578241688		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr20:61288206C>T	ENST00000370507.1	+	1	496	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	SLCO4A1_ENST00000217159.1_Missense_Mutation_p.R134C			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	134					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCTGGAGCGCCGCTATGACCT	0.612																																					Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(400-402)Cgc>Tgc		solute carrier organic anion transporter family, member 4A1							47	47	47					20																	61288206		2203	4300	6503	SO:0001583	missense	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61288206C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"Solute carriers"	10953	protein-coding gene	gene with protein product		612436	"solute carrier family 21 (organic anion transporter), member 12"	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.400C>T	20.37:g.61288206C>T	ENSP00000359538:p.Arg134Cys		Somatic				SLCO4A1_ENST00000370507.1_Missense_Mutation_p.R134C	p.R134C	NM_016354.3	NP_057438.3	WXS	Illumina GAIIx	Phase_I	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		2	605	+	Breast(26;3.65e-08)		134					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	c.400C>T	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378378	0.42207	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507;ENST00000342674	T;T	0.57752	0.38;0.38	4.58	3.6	0.41247	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.79458	0.4449	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83983	0.0333	10	0.87932	D	0	.	11.6696	0.51393	0.3224:0.6776:0.0:0.0	.	134	Q96BD0	SO4A1_HUMAN	C	134	ENSP00000217159:R134C;ENSP00000359538:R134C	ENSP00000217159:R134C	R	+	1	0	SLCO4A1	60758651	1.000000	0.71417	0.767000	0.31495	0.015000	0.08874	4.630000	0.61297	0.864000	0.35578	0.462000	0.41574	CGC		0.612	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		7	71	0	0	0	1	0	7	71					T	61288206	C	T	61288206	3	4	46	1	0	0	0	0	1	0	0	0	14744	652	23	1	402	1	SLCO4A1	20	61288206	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	14018291	61288206	1737314	91	4394										
TPTE	7179	broad.mit.edu	37	chr21	10921996	10921996	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	aaccatagttcctgttctatCtagaaaagaaaagaagttag	7	6	2	3			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr21:10921996C>T	ENST00000361285.4	-	18	1357		c.e18-1		TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000298232.7_Splice_Site	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTGTTCTATCTAGAAAAGAA	0.313																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e17-1		transmembrane phosphatase with tensin homology							117	99	105					21																	10921996		2203	4299	6502	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10921996C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1028-1G>A	21.37:g.10921996C>T			Somatic				TPTE_ENST00000361285.4_Splice_Site|TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000415664.2_Splice_Site		NM_199259.2	NP_954868.1	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	1341	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37		CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	3.778	-0.046265	0.07407	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.26	2.26	0.28386	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1577	0.31178	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPTE	9943867	1.000000	0.71417	0.943000	0.38184	0.025000	0.11179	2.183000	0.42565	1.307000	0.44944	0.121000	0.15741	.		0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Intron	15	41	0	0	0	1	0	15	41					T	10921996	C	T	10921996	5	4	46	1	0	0	0	0	0	0	1	0	16445	927	32	3	656	3	TPTE	21	10921996	Splice_Site	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08		10921996	37207899	92	4395										
TRPM2	7226	broad.mit.edu	37	chr21	45811363	45811363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	tcccgagcgcccggcttgcgCgcccgcggcgccccgcctgc	14	22	0	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr21:45811363C>T	ENST00000397928.1	+	11	2094	c.1649C>T	c.(1648-1650)gCg>gTg	p.A550V	TRPM2_ENST00000300481.9_Intron|TRPM2_ENST00000397932.2_Missense_Mutation_p.A550V|TRPM2_ENST00000300482.5_Missense_Mutation_p.A550V|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	550					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCGGCTTgcgcgcccgcggcg	0.687																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(1648-1650)gCg>gTg		transient receptor potential cation channel, subfamily M, member 2							30	25	27					21																	45811363		2202	4299	6501	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45811363C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1649C>T	21.37:g.45811363C>T	ENSP00000381023:p.Ala550Val		Somatic				TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.A550V|TRPM2_ENST00000397932.2_Missense_Mutation_p.A550V|TRPM2_ENST00000300481.9_Intron	p.A550V	NM_003307.3	NP_003298.1	WXS	Illumina GAIIx	Phase_I	O94759	TRPM2_HUMAN			11	2094	+			550					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1649C>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	3.032	-0.199386	0.06219	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000397932	T;T;T	0.51574	0.81;0.81;0.7	4.16	1.28	0.21552	.	7.618970	0.00357	N	0.000037	T	0.39886	0.1095	L	0.40543	1.245	0.09310	N	0.999999	B;B;B	0.13594	0.008;0.006;0.004	B;B;B	0.08055	0.002;0.003;0.002	T	0.10382	-1.0632	10	0.32370	T	0.25	-4.3972	5.5876	0.17283	0.0:0.6579:0.1619:0.1802	.	550;336;550	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	V	550	ENSP00000300482:A550V;ENSP00000381023:A550V;ENSP00000381026:A550V	ENSP00000300482:A550V	A	+	2	0	TRPM2	44635791	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.091000	0.03369	-0.037000	0.13646	0.655000	0.94253	GCG		0.687	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		12	19	0	0	0	1	0	12	19					T	45811363	C	T	45811363	3	4	46	1	0	0	0	0	1	0	0	0	16601	768	27	1	1691	1	TRPM2	21	45811363	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	34889367	45811363	2318532	93	4396										
LZTR1	8216	broad.mit.edu	37	chr22	21344752	21344752	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	cgggacaagatgtttgtattCtctgggcaaagcggagccaa	13	8	1	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr22:21344752C>G	ENST00000215739.8	+	8	1088	c.729C>G	c.(727-729)ttC>ttG	p.F243L	LZTR1_ENST00000389355.3_Missense_Mutation_p.F224L|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	243					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)			TGTTTGTATTCTCTGGGCAAA	0.567																																						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.(727-729)ttC>ttG		leucine-zipper-like transcription regulator 1							109	103	105					22																	21344752		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21344752C>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.729C>G	22.37:g.21344752C>G	ENSP00000215739:p.Phe243Leu		Somatic				LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.F224L	p.F243L	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)		8	1088	+	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)	243					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.729C>G	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810844	0.70797	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.68624	-0.34;-0.34	5.7	4.68	0.58851	Kelch-type beta propeller (1);	0.097484	0.64402	D	0.000001	T	0.73783	0.3631	M	0.80616	2.505	0.58432	D	0.999999	B;P;B;B	0.35944	0.046;0.529;0.026;0.012	B;P;B;B	0.46585	0.066;0.521;0.022;0.02	T	0.76926	-0.2778	10	0.87932	D	0	-33.8228	9.3171	0.37941	0.0:0.837:0.0:0.163	.	224;202;243;202	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	L	202;243;224	ENSP00000215739:F243L;ENSP00000374006:F224L	ENSP00000215739:F243L	F	+	3	2	LZTR1	19674752	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.106000	0.31098	2.688000	0.91661	0.655000	0.94253	TTC		0.567	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		92	29	0	0	0	1	0	92	29					G	21344752	C	G	21344752	3	3	46	1	0	0	0	0	1	0	0	0	9146	912	32	2	759	2	LZTR1	22	21344752	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08		21344752	29959814	94	4397										
CABIN1	23523	broad.mit.edu	37	chr22	24561546	24561546	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gtcctggcgcagcgggccttCatcctcactgtgaaggtgct	13	13	2	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr22:24561546C>T	ENST00000398319.2	+	31	5344	c.4959C>T	c.(4957-4959)ttC>ttT	p.F1653F	CABIN1_ENST00000263119.5_Silent_p.F1653F|CABIN1_ENST00000337989.7_Silent_p.F78F|CABIN1_ENST00000405822.2_Silent_p.F1574F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1653					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						AGCGGGCCTTCATCCTCACTG	0.602																																						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.(4957-4959)ttC>ttT		calcineurin binding protein 1							99	67	78					22																	24561546		2202	4300	6502	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24561546C>T	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.4959C>T	22.37:g.24561546C>T			Somatic				CABIN1_ENST00000263119.5_Silent_p.F1653F|CABIN1_ENST00000337989.7_Silent_p.F78F|CABIN1_ENST00000405822.2_Silent_p.F1574F	p.F1653F	NM_001199281.1	NP_001186210.1	WXS	Illumina GAIIx	Phase_I	Q9Y6J0	CABIN_HUMAN			31	5344	+			1653					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.4959C>T	CCDS13823.1																																																																																				0.602	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		27	9	0	0	0	1	0	27	9					T	24561546	C	T	24561546	2	4	46	1	0	0	0	0	0	0	0	1	2530	825	29	3		3	CABIN1	22	24561546	Silent	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	3216794	24561546	26743020	95	4398										
ZC4H2	55906	broad.mit.edu	37	chrX	64141740	64141740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	gtcggagttcctccacatggGccatcttctcctgtagcaga	10	13	2	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:64141740G>A	ENST00000374839.3	-	2	288	c.182C>T	c.(181-183)gCc>gTc	p.A61V	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Missense_Mutation_p.A38V|ZC4H2_ENST00000545618.1_Missense_Mutation_p.A56V|ZC4H2_ENST00000447788.2_Missense_Mutation_p.A61V	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	61					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTCCACATGGGCCATCTTCTC	0.507																																						ENST00000545618.1																			0				endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(166-168)gCc>gTc		zinc finger, C4H2 domain containing							182	109	134					X																	64141740		2203	4300	6503	SO:0001583	missense	55906						metal ion binding|protein binding	g.chrX:64141740G>A	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"Zinc fingers"	24931	protein-coding gene	gene with protein product		300897	"KIAA1166", "Wieacker-Wolff syndrome"	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.182C>T	X.37:g.64141740G>A	ENSP00000363972:p.Ala61Val		Somatic				ZC4H2_ENST00000337990.2_Missense_Mutation_p.A38V|ZC4H2_ENST00000374839.3_Missense_Mutation_p.A61V|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_Missense_Mutation_p.A61V	p.A56V			WXS	Illumina GAIIx	Phase_I	Q9NQZ6	ZC4H2_HUMAN			3	730	-			61					B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Missense_Mutation	SNP	ENST00000374839.3	37	c.167C>T	CCDS14380.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329621	0.95733	.	.	ENSG00000126970	ENST00000447788;ENST00000545618;ENST00000374839;ENST00000337990	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.76955	0.4060	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.992	T	0.78770	-0.2074	9	0.72032	D	0.01	.	16.1289	0.81412	0.0:0.0:1.0:0.0	.	61;61	B4DED0;Q9NQZ6	.;ZC4H2_HUMAN	V	61;56;61;38	.	ENSP00000338650:A38V	A	-	2	0	ZC4H2	64058465	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.529000	0.98049	2.499000	0.84300	0.529000	0.55759	GCC		0.507	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		7	20	0	0	0	1	0	7	20					A	64141740	G	A	64141740	3	1	46	1	0	0	0	0	1	0	0	0	17593	1203	42	3	527	3	ZC4H2	23	64141740	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08		64141740	91128820	96	4399										
HDAC8	55869	broad.mit.edu	37	chrX	71684476	71684476	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	agacacttgccaattcccacTggagtcatgttaaaggagca	9	10	1	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:71684476T>C	ENST00000373573.3	-	8	1184	c.843A>G	c.(841-843)ccA>ccG	p.P281P	HDAC8_ENST00000429103.2_Silent_p.P86P|HDAC8_ENST00000373589.4_Silent_p.P190P|HDAC8_ENST00000373583.1_Intron	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	281	Histone deacetylase.				chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	CAATTCCCACTGGAGTCATGT	0.448																																						ENST00000373573.3																			0				breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10						c.(841-843)ccA>ccG		histone deacetylase 8	Vorinostat(DB02546)						157	133	141					X																	71684476		2203	4300	6503	SO:0001819	synonymous_variant	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:71684476T>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.843A>G	X.37:g.71684476T>C			Somatic				HDAC8_ENST00000373589.4_Silent_p.P190P|HDAC8_ENST00000429103.2_Silent_p.P86P|HDAC8_ENST00000373583.1_Intron	p.P281P	NM_018486.2	NP_060956.1	WXS	Illumina GAIIx	Phase_I	Q9BY41	HDAC8_HUMAN			8	1184	-	Renal(35;0.156)		281			Histone deacetylase.		A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Silent	SNP	ENST00000373573.3	37	c.843A>G	CCDS14420.1																																																																																				0.448	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		16	84	0	0	0	1	0	16	84					C	71684476	T	C	71684476	2	2	46	1	0	0	0	0	0	0	0	1	7022	1567	55	4		4	HDAC8	23	71684476	Silent	SNP	T	TCGA-ND-A4W6-01A-11D-A28R-08	7542736	71684476	83586084	97	4400										
TAF7L	54457	broad.mit.edu	37	chrX	100531442	100531442	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	atcctcatcctcatcctcatCttcatcatcctcatcctcat	0	18	8	0			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:100531442C>G	ENST00000372907.3	-	10	1035	c.1024G>C	c.(1024-1026)Gat>Cat	p.D342H	TAF7L_ENST00000324762.6_Intron|TAF7L_ENST00000356784.1_Missense_Mutation_p.D256H|TAF7L_ENST00000372905.2_Intron	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	342	Glu-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						tcatcctcatcttcatcatcc	0.418																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1024-1026)Gat>Cat		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa							214	169	184					X																	100531442		2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100531442C>G	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1024G>C	X.37:g.100531442C>G	ENSP00000361998:p.Asp342His		Somatic				TAF7L_ENST00000356784.1_Missense_Mutation_p.D256H|TAF7L_ENST00000324762.6_Intron|TAF7L_ENST00000372905.2_Intron	p.D342H	NM_024885.3	NP_079161.3	WXS	Illumina GAIIx	Phase_I	Q5H9L4	TAF7L_HUMAN			10	1035	-			342			Glu-rich.		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.1024G>C	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	c	8.528	0.870399	0.17322	.	.	ENSG00000102387	ENST00000372907;ENST00000356784	T;T	0.15487	3.6;2.42	4.65	2.87	0.33458	Armadillo-like helical (1);	0.954397	0.08507	U	0.935513	T	0.23249	0.0562	L	0.36672	1.1	0.09310	N	0.999996	D	0.63046	0.992	P	0.54060	0.741	T	0.20174	-1.0283	10	0.36615	T	0.2	-0.0304	9.0776	0.36531	0.0:0.8214:0.0:0.1786	.	342	Q5H9L4	TAF7L_HUMAN	H	342;256	ENSP00000361998:D342H;ENSP00000349235:D256H	ENSP00000349235:D256H	D	-	1	0	TAF7L	100418098	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.969000	0.03813	0.354000	0.24105	0.464000	0.42555	GAT		0.418	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			30	36	0	0	0	1	0	30	36					G	100531442	C	G	100531442	3	3	46	1	0	0	0	0	1	0	0	0	15548	913	32	2	380	2	TAF7L	23	100531442	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	28846966	100531442	54739118	98	4401										
RNF128	79589	broad.mit.edu	37	chrX	105937564	105937564	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	aaaaattcaaacagcgggcaGaagaaatgctgatgctgttg	11	6	1	3			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:105937564G>A	ENST00000324342.3	+	1	497	c.332G>A	c.(331-333)aGa>aAa	p.R111K		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	137	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ACAGCGGGCAGAAGAAATGCT	0.383																																						ENST00000324342.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(331-333)aGa>aAa		ring finger protein 128, E3 ubiquitin protein ligase							64	61	62					X																	105937564		2203	4299	6502	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105937564G>A	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.332G>A	X.37:g.105937564G>A	ENSP00000316127:p.Arg111Lys		Somatic					p.R111K	NM_024539.3	NP_078815.3	WXS	Illumina GAIIx	Phase_I	Q8TEB7	RN128_HUMAN			1	497	+			137			PA.		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000324342.3	37	c.332G>A	CCDS14520.1	.	.	.	.	.	.	.	.	.	.	G	8.998	0.979363	0.18812	.	.	ENSG00000133135	ENST00000418562;ENST00000324342	T;T	0.06528	3.29;3.29	6.16	5.18	0.71444	.	.	.	.	.	T	0.04724	0.0128	N	0.20986	0.625	0.80722	D	1	B	0.28178	0.202	B	0.29077	0.098	T	0.36163	-0.9759	9	0.09084	T	0.74	.	11.1484	0.48444	0.1118:0.0:0.8882:0.0	.	111	Q8TEB7-2	.	K	84;111	ENSP00000412610:R84K;ENSP00000316127:R111K	ENSP00000316127:R111K	R	+	2	0	RNF128	105824220	0.945000	0.32115	0.954000	0.39281	0.993000	0.82548	1.717000	0.37991	1.100000	0.41517	0.594000	0.82650	AGA		0.383	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057805.1	NM_024539		13	25	0	0	0	1	0	13	25					A	105937564	G	A	105937564	3	1	46	1	0	0	0	0	1	0	0	0	13451	942	33	3	334	3	RNF128	23	105937564	Missense_Mutation	SNP	G	TCGA-ND-A4W6-01A-11D-A28R-08	5406122	105937564	49332996	99	4402										
MAGEC2	51438	broad.mit.edu	37	chrX	141290899	141290899	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.25	25	0.000739891733313033	2.40076824583867	4.67012601927354	1.65735794074794	1	1	15	attcataatatggaggagaaCtgtggggcacctcccgatac	11	9	1	1			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:141290899C>G	ENST00000247452.3	-	3	1222	c.875G>C	c.(874-876)aGt>aCt	p.S292T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	292	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGGAGAACTGTGGGGCAC	0.498										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(874-876)aGt>aCt		melanoma antigen family C, 2							83	83	83					X																	141290899		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141290899C>G	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.875G>C	X.37:g.141290899C>G	ENSP00000354660:p.Ser292Thr	HNSCC(46;0.14)	Somatic					p.S292T	NM_016249.3	NP_057333.1	WXS	Illumina GAIIx	Phase_I	Q9UBF1	MAGC2_HUMAN			3	1222	-	Acute lymphoblastic leukemia(192;6.56e-05)		292			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.875G>C	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	8.474	0.858277	0.17178	.	.	ENSG00000046774	ENST00000247452	T	0.05081	3.5	0.988	-1.44	0.08856	.	0.283227	0.30911	N	0.008638	T	0.09555	0.0235	L	0.40543	1.245	0.09310	N	1	D	0.61697	0.99	D	0.66497	0.944	T	0.20974	-1.0259	10	0.36615	T	0.2	.	2.4123	0.04428	0.0:0.4186:0.3208:0.2606	.	292	Q9UBF1	MAGC2_HUMAN	T	292	ENSP00000354660:S292T	ENSP00000354660:S292T	S	-	2	0	MAGEC2	141118565	0.039000	0.19947	0.001000	0.08648	0.049000	0.14656	-0.053000	0.11846	-0.647000	0.05444	-0.893000	0.02921	AGT		0.498	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		24	59	0	0	0	1	0	24	59					G	141290899	C	G	141290899	3	3	46	1	0	0	0	0	1	0	0	0	9190	565	20	5	250	5	MAGEC2	23	141290899	Missense_Mutation	SNP	C	TCGA-ND-A4W6-01A-11D-A28R-08	35353335	141290899	13979661	100	4403										
ARHGEF10L	55160	broad.mit.edu	37	chr1	17966763	17966763	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	cccctgagcaagatttcctgGgtcaacaggttacatttggc	10	11	1	2			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:17966763G>T	ENST00000361221.3	+	21	2397	c.2238G>T	c.(2236-2238)tgG>tgT	p.W746C	ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.W741C|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.W707C|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.W519C|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.W449C|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.W707C	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	746						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)		AGATTTCCTGGGTCAACAGGT	0.572																																						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.(2236-2238)tgG>tgT		Rho guanine nucleotide exchange factor (GEF) 10-like							73	62	65					1																	17966763		2202	4300	6502	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17966763G>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.2238G>T	1.37:g.17966763G>T	ENSP00000355060:p.Trp746Cys		Somatic				ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.W707C|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.W707C|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.W449C|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.W741C|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.W519C	p.W746C	NM_018125.3	NP_060595.3	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)	21	2397	+		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)	746					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.2238G>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395482	0.83011	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.91925	0.7443	M	0.83384	2.64	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0;1.0;0.999	D	0.92724	0.6194	10	0.87932	D	0	-9.0071	18.1276	0.89591	0.0:0.0:1.0:0.0	.	519;741;449;507;702;707;746	Q5VXI4;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	C	746;707;741;707;519;519;449	ENSP00000355060:W746C;ENSP00000399401:W707C;ENSP00000394621:W741C;ENSP00000364564:W707C;ENSP00000364557:W519C;ENSP00000167825:W449C	ENSP00000167825:W449C	W	+	3	0	ARHGEF10L	17839350	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.013000	0.93629	2.621000	0.88768	0.557000	0.71058	TGG		0.572	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		12	0	1	0	2.27111e-07	1	2.52038e-07	12	0					T	17966763	G	T	17966763	3	4	47	1	0	0	0	0	1	0	0	0	895	1241	43	5	2316	5	ARHGEF10L	1	17966763	Missense_Mutation	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08		17966763	231283858	1	4404										
CYP4X1	260293	broad.mit.edu	37	chr1	47495700	47495700	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	atggagaagcttgaggaaatTattgaaaaataccctcgtgc	10	6	0	3			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:47495700T>C	ENST00000371901.3	+	2	466	c.216T>C	c.(214-216)atT>atC	p.I72I	CYP4X1_ENST00000538609.1_Silent_p.I71I	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	72						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						TTGAGGAAATTATTGAAAAAT	0.418																																						ENST00000371901.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(214-216)atT>atC		cytochrome P450, family 4, subfamily X, polypeptide 1							144	149	147					1																	47495700		2203	4300	6503	SO:0001819	synonymous_variant	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47495700T>C	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.216T>C	1.37:g.47495700T>C			Somatic				CYP4X1_ENST00000538609.1_Silent_p.I71I	p.I72I	NM_178033.1	NP_828847.1	WXS	Illumina GAIIx	Phase_I	Q8N118	CP4X1_HUMAN			2	466	+			72					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Silent	SNP	ENST00000371901.3	37	c.216T>C	CCDS544.1																																																																																				0.418	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		33	40	0	0	0	1	0	33	40					C	47495700	T	C	47495700	2	2	47	1	0	0	0	0	0	0	0	1	4195	1742	61	4		4	CYP4X1	1	47495700	Silent	SNP	T	TCGA-ND-A4WA-01A-12D-A28R-08	29528937	47495700	201754921	2	4405										
NRD1	4898	broad.mit.edu	37	chr1	52258048	52258048	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	gcatctcctttatgcacttaCcacaagcagctccataagcg	6	14	1	0			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:52258048C>A	ENST00000354831.7	-	27	3217		c.e27+1		RP4-657D16.3_ENST00000586761.1_RNA|RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000352171.7_Splice_Site|RP4-657D16.3_ENST00000591675.1_RNA|NRD1_ENST00000485608.1_Splice_Site	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)						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						TATGCACTTACCACAAGCAGC	0.502																																						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.e27+1		nardilysin (N-arginine dibasic convertase)							98	101	100					1																	52258048		2203	4300	6503	SO:0001630	splice_region_variant	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.chr1:52258048C>A	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.3027+1G>T	1.37:g.52258048C>A			Somatic				NRD1_ENST00000352171.7_Splice_Site|NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000485608.1_Splice_Site		NM_002525.2	NP_002516.2	WXS	Illumina GAIIx	Phase_I	O43847	NRDC_HUMAN			27	3217	-								A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Splice_Site	SNP	ENST00000354831.7	37		CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158073	0.57368	.	.	ENSG00000078618	ENST00000440943;ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4881	0.90836	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRD1	52030636	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	7.180000	0.77674	2.604000	0.88044	0.555000	0.69702	.		0.502	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	Intron	14	23	1	0	1.15088e-07	1	1.30912e-07	14	23					A	52258048	C	A	52258048	5	1	47	1	0	0	0	0	0	0	1	0	10654	521	18	5	659	5	NRD1	1	52258048	Splice_Site	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08	4762348	52258048	196992573	3	4406										
PCSK9	255738	broad.mit.edu	37	chr1	55527145	55527145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	cagtgcgtgggccacagggaGgccagcatccacgcttcctg	14	14	0	0			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:55527145G>A	ENST00000302118.5	+	11	2069	c.1779G>A	c.(1777-1779)gaG>gaA	p.E593E	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	593	C-terminal domain.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GCCACAGGGAGGCCAGCATCC	0.652																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(1777-1779)gaG>gaA		proprotein convertase subtilisin/kexin type 9							30	27	28					1																	55527145		2201	4299	6500	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.chr1:55527145G>A	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1779G>A	1.37:g.55527145G>A			Somatic				PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_3'UTR	p.E593E	NM_174936.3	NP_777596.2	WXS	Illumina GAIIx	Phase_I	Q8NBP7	PCSK9_HUMAN			11	2069	+			593					A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	ENST00000302118.5	37	c.1779G>A	CCDS603.1																																																																																				0.652	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		9	8	0	0	0	1	0	9	8					A	55527145	G	A	55527145	2	1	47	1	0	0	0	0	0	0	0	1	11615	991	35	3		3	PCSK9	1	55527145	Silent	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08	3269097	55527145	193723476	4	4407										
ASTN1	460	broad.mit.edu	37	chr1	176838076	176838076	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	cccggtgtaaggtgggggaaCccagatccaggagggtgttg	18	8	0	1			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:176838076C>A	ENST00000367654.3	-	22	3786	c.3575G>T	c.(3574-3576)gGt>gTt	p.G1192V	ASTN1_ENST00000424564.2_Missense_Mutation_p.G1184V|ASTN1_ENST00000367657.3_Missense_Mutation_p.G1184V|ASTN1_ENST00000361833.2_Missense_Mutation_p.G1184V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1192					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						GGTGGGGGAACCCAGATCCAG	0.512																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3574-3576)gGt>gTt		astrotactin 1							168	155	160					1																	176838076		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176838076C>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.3575G>T	1.37:g.176838076C>A	ENSP00000356626:p.Gly1192Val		Somatic				ASTN1_ENST00000367657.3_Missense_Mutation_p.G1184V|ASTN1_ENST00000424564.2_Missense_Mutation_p.G1184V|ASTN1_ENST00000361833.2_Missense_Mutation_p.G1184V	p.G1192V			WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			22	3588	-			1192					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3575G>T		.	.	.	.	.	.	.	.	.	.	C	16.53	3.149996	0.57151	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15139	2.45;2.86;2.86;2.45	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.976	T	0.03619	-1.1019	10	0.72032	D	0.01	-21.4986	19.4429	0.94831	0.0:1.0:0.0:0.0	.	1184;1184	O14525-2;B1AJS1	.;.	V	1184;1184;1192;1184;1184	ENSP00000356629:G1184V;ENSP00000354536:G1184V;ENSP00000356626:G1192V;ENSP00000395041:G1184V	ENSP00000354536:G1184V	G	-	2	0	ASTN1	175104699	1.000000	0.71417	0.985000	0.45067	0.103000	0.19146	4.688000	0.61715	2.698000	0.92095	0.655000	0.94253	GGT		0.512	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		29	46	1	0	8.58068e-18	1	1.00108e-17	29	46					A	176838076	C	A	176838076	3	1	47	1	0	0	0	0	1	0	0	0	1064	507	18	5	345	5	ASTN1	1	176838076	Missense_Mutation	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08	121310931	176838076	72412545	5	4408										
SUSD4	55061	broad.mit.edu	37	chr1	223402701	223402701	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	cgggtggcagacgaaatctcCgtgactcaccattggaggta	13	10	2	2	rs370135332		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:223402701C>T	ENST00000343846.3	-	5	1387	c.754G>A	c.(754-756)Gga>Aga	p.G252R	SUSD4_ENST00000454695.2_Missense_Mutation_p.G92R|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000484758.2_Missense_Mutation_p.G183R|SUSD4_ENST00000494793.2_Missense_Mutation_p.G252R|SUSD4_ENST00000366878.4_Missense_Mutation_p.G252R			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	252	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		ACGAAATCTCCGTGACTCACC	0.532																																						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.(754-756)Gga>Aga		sushi domain containing 4		C	ARG/GLY	0,4222		0,0,2111	60	66	64		754	5.8	1	1		64	2,8494		1,0,4247	no	missense	SUSD4	NM_017982.3	125	1,0,6358	TT,TC,CC		0.0235,0.0,0.0157	probably-damaging	252/491	223402701	2,12716	2111	4248	6359	SO:0001583	missense	55061					integral to membrane		g.chr1:223402701C>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.754G>A	1.37:g.223402701C>T	ENSP00000344219:p.Gly252Arg		Somatic				SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.G92R|SUSD4_ENST00000366878.4_Missense_Mutation_p.G252R	p.G252R			WXS	Illumina GAIIx	Phase_I	Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	5	1387	-			252			Sushi 4.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.754G>A	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438394	0.96168	0.0	2.35E-4	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	T;T;T	0.56611	0.45;0.45;0.45	5.83	5.83	0.93111	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.46442	D	0.000288	T	0.74558	0.3732	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.75900	-0.3154	10	0.87932	D	0	-14.0915	20.1257	0.97981	0.0:1.0:0.0:0.0	.	252	Q5VX71	SUSD4_HUMAN	R	252;252;183;92	ENSP00000344219:G252R;ENSP00000355843:G252R;ENSP00000399288:G92R	ENSP00000344219:G252R	G	-	1	0	SUSD4	221469324	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.135000	0.77276	2.767000	0.95098	0.655000	0.94253	GGA		0.532	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		3	27	0	0	0	1	0	3	27					T	223402701	C	T	223402701	3	4	47	1	0	0	0	0	1	0	0	0	15425	661	23	1	734	1	SUSD4	1	223402701	Missense_Mutation	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08	46564625	223402701	25847920	6	4409										
EFCAB2	84288	broad.mit.edu	37	chr1	245246946	245246946	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	tttagattcagctaaacgtgGgtttcttactaaggacgagc	10	7	2	1			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:245246946G>T	ENST00000366522.2	+	7	878	c.737G>T	c.(736-738)gGg>gTg	p.G246V	EFCAB2_ENST00000447569.2_Missense_Mutation_p.G110V|EFCAB2_ENST00000366523.1_Missense_Mutation_p.G110V|EFCAB2_ENST00000487845.1_3'UTR			Q5VUJ9	EFCB2_HUMAN	EF-hand calcium binding domain 2	246	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			GCTAAACGTGGGTTTCTTACT	0.294																																						ENST00000366522.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13						c.(736-738)gGg>gTg		EF-hand calcium binding domain 2							75	73	74					1																	245246946		2203	4300	6503	SO:0001583	missense	84288						calcium ion binding	g.chr1:245246946G>T	AB209286	CCDS31082.1, CCDS44341.1	1q44	2014-07-18			ENSG00000203666	ENSG00000203666		"EF-hand domain containing"	28166	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 8"					23427265	Standard	NM_032328		Approved	MGC12458, DRC8, CFAP200	uc001ibc.2	Q5VUJ9	OTTHUMG00000040474	ENST00000366522.2:c.737G>T	1.37:g.245246946G>T	ENSP00000355479:p.Gly246Val		Somatic				EFCAB2_ENST00000487845.1_3'UTR|EFCAB2_ENST00000447569.2_Missense_Mutation_p.G110V|EFCAB2_ENST00000366523.1_Missense_Mutation_p.G110V	p.G246V			WXS	Illumina GAIIx	Phase_I	Q5VUJ9	EFCB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.015)		7	878	+	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		246			EF-hand 2.		B4DZE9|Q59G23|Q9BS36	Missense_Mutation	SNP	ENST00000366522.2	37	c.737G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.15|17.15|17.15	3.315193|3.315193|3.315193	0.60524|0.60524|0.60524	.|.|.	.|.|.	ENSG00000203666|ENSG00000203666|ENSG00000203666	ENST00000551317;ENST00000425550;ENST00000427529|ENST00000366523;ENST00000366522;ENST00000447569|ENST00000366521	D;D|D;D;D|.	0.85556|0.87650|.	-2.0;-2.0|-2.28;-2.0;-2.0|.	5.93|5.93|5.93	5.02|5.02|5.02	0.67125|0.67125|0.67125	.|EF-hand-like domain (1);|.	0.000000|0.000000|.	0.64402|0.64402|.	D|D|.	0.000001|0.000001|.	T|T|T	0.77246|0.77246|0.77246	0.4102|0.4102|0.4102	M|M|M	0.84683|0.84683|0.84683	2.71|2.71|2.71	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D|.	.|0.89917|.	.|1.0;1.0;1.0;1.0|.	.|D;D;D;D|.	.|0.91635|.	.|0.998;0.995;0.999;0.993|.	T|T|T	0.79750|0.79750|0.79750	-0.1672|-0.1672|-0.1672	7|10|5	.|0.87932|.	.|D|.	.|0|.	.|.|.	13.0208|13.0208|13.0208	0.58787|0.58787|0.58787	0.0775:0.0:0.9225:0.0|0.0775:0.0:0.9225:0.0|0.0775:0.0:0.9225:0.0	.|.|.	.|110;168;246;110|.	.|B4DZE9;B1AN33;Q5VUJ9;Q5VUJ9-2|.	.|.;.;EFCB2_HUMAN;.|.	C|V|C	102;102;18|110;246;110|168	ENSP00000447807:G102C;ENSP00000405269:G102C|ENSP00000355480:G110V;ENSP00000355479:G246V;ENSP00000408661:G110V|.	.|ENSP00000355479:G246V|.	G|G|W	+|+|+	1|2|3	0|0|0	EFCAB2|EFCAB2|EFCAB2	243313569|243313569|243313569	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.877000|0.877000|0.877000	0.34402|0.34402|0.34402	0.531000|0.531000|0.531000	0.34715|0.34715|0.34715	6.820000|6.820000|6.820000	0.75267|0.75267|0.75267	1.532000|1.532000|1.532000	0.49169|0.49169|0.49169	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGT|GGG|TGG		0.294	EFCAB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000097407.2			4	2	1	0	0.00024832	1	0.000265848	4	2					T	245246946	G	T	245246946	3	4	47	1	0	0	0	0	1	0	0	0	4936	1232	43	5	351	5	EFCAB2	1	245246946	Missense_Mutation	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08	21844245	245246946	4003675	7	4410										
ZC3H6	376940	broad.mit.edu	37	chr2	113089467	113089467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	ggttatgaaggattcacatgCatcaaagggtgcccctcact	10	10	3	1			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:113089467C>T	ENST00000409871.1	+	12	3373	c.2972C>T	c.(2971-2973)gCa>gTa	p.A991V	AC115115.2_ENST00000607612.1_RNA|ZC3H6_ENST00000343936.4_Missense_Mutation_p.A991V	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	991							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GATTCACATGCATCAAAGGGT	0.473																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(2971-2973)gCa>gTa		zinc finger CCCH-type containing 6							46	44	44					2																	113089467		1925	4120	6045	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113089467C>T	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.2972C>T	2.37:g.113089467C>T	ENSP00000386764:p.Ala991Val		Somatic				ZC3H6_ENST00000343936.4_Missense_Mutation_p.A991V	p.A991V	NM_198581.2	NP_940983.2	WXS	Illumina GAIIx	Phase_I	P61129	ZC3H6_HUMAN			12	3373	+			991					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.2972C>T	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	C	6.435	0.448475	0.12223	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.14766	2.48;2.48	5.59	2.48	0.30137	.	1.006310	0.07978	N	0.985054	T	0.11537	0.0281	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35450	-0.9788	10	0.59425	D	0.04	1.7494	9.5504	0.39306	0.0:0.7467:0.0:0.2533	.	991	P61129	ZC3H6_HUMAN	V	991	ENSP00000386764:A991V;ENSP00000340298:A991V	ENSP00000340298:A991V	A	+	2	0	ZC3H6	112805938	0.023000	0.18921	0.001000	0.08648	0.618000	0.37518	1.100000	0.31025	0.174000	0.19809	0.591000	0.81541	GCA		0.473	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		15	18	0	0	0	1	0	15	18					T	113089467	C	T	113089467	3	4	47	1	0	0	0	0	1	0	0	0	17586	710	25	3	3018	3	ZC3H6	2	113089467	Missense_Mutation	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08		113089467	130109906	8	4411										
SCN3A	6328	broad.mit.edu	37	chr2	166019317	166019317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	tctttaccgactggatcaggGcccccacaatggtctttaaa	8	12	3	0			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:166019317G>A	ENST00000360093.3	-	8	1207	c.716C>T	c.(715-717)gCc>gTc	p.A239V	SCN3A_ENST00000409101.3_Missense_Mutation_p.A239V|SCN3A_ENST00000283254.7_Missense_Mutation_p.A239V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	239					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGGATCAGGGCCCCCACAAT	0.453																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(715-717)gCc>gTc		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						113	113	113					2																	166019317		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166019317G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.716C>T	2.37:g.166019317G>A	ENSP00000353206:p.Ala239Val		Somatic				SCN3A_ENST00000283254.7_Missense_Mutation_p.A239V|SCN3A_ENST00000409101.3_Missense_Mutation_p.A239V	p.A239V	NM_001081677.1	NP_001075146.1	WXS	Illumina GAIIx	Phase_I	Q9NY46	SCN3A_HUMAN			8	1207	-			239					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.716C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.181397	0.94885	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1	5.93	5.93	0.95920	Ion transport (1);	0.206477	0.34002	N	0.004350	D	0.99393	0.9786	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.997;0.998;0.999;0.998	D;D;D;D;D	0.80764	0.994;0.98;0.992;0.992;0.994	D	0.98897	1.0775	10	0.87932	D	0	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	239;239;239;239;239	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	V	239	ENSP00000353206:A239V;ENSP00000283254:A239V;ENSP00000386726:A239V;ENSP00000403348:A239V	ENSP00000283254:A239V	A	-	2	0	SCN3A	165727563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.814000	0.96858	0.591000	0.81541	GCC		0.453	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		39	80	0	0	0	1	0	39	80					A	166019317	G	A	166019317	3	1	47	1	0	0	0	0	1	0	0	0	13933	1203	42	3	5370	3	SCN3A	2	166019317	Missense_Mutation	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08	52929850	166019317	77180056	9	4412										
FAM171B	165215	broad.mit.edu	37	chr2	187615972	187615972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	agtttctcttcctcttctacGtctgaatgatataagtgcag	7	9	4	2	rs369698664		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:187615972G>A	ENST00000304698.5	+	5	1039	c.836G>A	c.(835-837)cGt>cAt	p.R279H		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	279						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCTCTTCTACGTCTGAATGAT	0.363																																						ENST00000304698.5																			0				NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(835-837)cGt>cAt		family with sequence similarity 171, member B		G	HIS/ARG	0,4406		0,0,2203	94	99	97		836	-0.1	0.3	2		97	4,8596	3.7+/-12.6	0,4,4296	no	missense	FAM171B	NM_177454.3	29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	279/827	187615972	4,13002	2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187615972G>A	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.836G>A	2.37:g.187615972G>A	ENSP00000304108:p.Arg279His		Somatic					p.R279H	NM_177454.3	NP_803237.3	WXS	Illumina GAIIx	Phase_I	Q6P995	F171B_HUMAN			5	1039	+			279					Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.836G>A	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	8.421	0.846299	0.16963	0.0	4.65E-4	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.31510	1.49	5.49	-0.0538	0.13816	.	0.499150	0.23532	N	0.047170	T	0.08537	0.0212	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	0.35574	-0.9783	10	0.10636	T	0.68	-3.2722	6.1927	0.20534	0.4053:0.4253:0.1695:0.0	.	279;280	Q6P995;A8K122	F171B_HUMAN;.	H	279	ENSP00000304108:R279H	ENSP00000272804:R279H	R	+	2	0	FAM171B	187324217	0.002000	0.14202	0.300000	0.25030	0.286000	0.27126	1.165000	0.31822	0.048000	0.15891	-0.320000	0.08662	CGT		0.363	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		9	27	0	0	0	1	0	9	27					A	187615972	G	A	187615972	3	1	47	1	0	0	0	0	1	0	0	0	5496	1145	40	1	854	1	FAM171B	2	187615972	Missense_Mutation	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08	21596655	187615972	55583401	10	4413										
PLCL1	5334	broad.mit.edu	37	chr2	198950127	198950127	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	cattgcaaatgagtacccagAggattttgttaattataata	7	5	0	2			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:198950127A>T	ENST00000428675.1	+	2	2284	c.1886A>T	c.(1885-1887)gAg>gTg	p.E629V	PLCL1_ENST00000437704.2_Missense_Mutation_p.E531V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	629	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAGTACCCAGAGGATTTTGTT	0.368																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1885-1887)gAg>gTg		phospholipase C-like 1	Quinacrine(DB01103)						38	41	40					2																	198950127		2202	4299	6501	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950127A>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1886A>T	2.37:g.198950127A>T	ENSP00000402861:p.Glu629Val		Somatic				PLCL1_ENST00000437704.2_Missense_Mutation_p.E531V	p.E629V	NM_006226.3	NP_006217.3	WXS	Illumina GAIIx	Phase_I	Q15111	PLCL1_HUMAN			2	2284	+			629			PI-PLC Y-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1886A>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	A	14.59	2.582100	0.46006	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.68624	-0.34;-0.34	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.64402	D	0.000003	T	0.71091	0.3299	L	0.35414	1.06	0.58432	D	0.999999	D;D	0.59357	0.985;0.985	P;P	0.62298	0.9;0.864	T	0.69529	-0.5121	9	.	.	.	.	15.5299	0.75952	1.0:0.0:0.0:0.0	.	629;555	Q15111;B4DYZ4	PLCL1_HUMAN;.	V	629;531	ENSP00000402861:E629V;ENSP00000414138:E531V	.	E	+	2	0	PLCL1	198658372	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.877000	0.75562	2.254000	0.74563	0.459000	0.35465	GAG		0.368	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		7	24	0	0	0	1	0	7	24					T	198950127	A	T	198950127	3	4	47	1	0	0	0	0	1	0	0	0	12048	304	11	4	1892	4	PLCL1	2	198950127	Missense_Mutation	SNP	A	TCGA-ND-A4WA-01A-12D-A28R-08	11334155	198950127	44249246	11	4414										
ZNF142	7701	broad.mit.edu	37	chr2	219508021	219508021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	tcgggggagcagagtccccaTtgctcaacggggacacatca	13	12	2	1			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:219508021T>C	ENST00000449707.1	-	8	3639	c.3218A>G	c.(3217-3219)aAt>aGt	p.N1073S	ZNF142_ENST00000411696.2_Missense_Mutation_p.N1073S	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1073					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)		AGAGTCCCCATTGCTCAACGG	0.602																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3217-3219)aAt>aGt		zinc finger protein 142							53	57	56					2																	219508021		1914	4115	6029	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508021T>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.3218A>G	2.37:g.219508021T>C	ENSP00000408643:p.Asn1073Ser		Somatic				ZNF142_ENST00000449707.1_Missense_Mutation_p.N1073S	p.N1073S			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	3997	-		Renal(207;0.0474)	1073					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.3218A>G	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	T	0.025	-1.376298	0.01214	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.10668	2.85;2.85	3.87	-4.37	0.03633	.	0.793170	0.11807	N	0.527574	T	0.04407	0.0121	N	0.04880	-0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.38200	-0.9672	10	0.33940	T	0.23	-13.5905	9.6297	0.39772	0.1431:0.6365:0.0:0.2204	.	1073;910	P52746;A8MWU9	ZN142_HUMAN;.	S	1073	ENSP00000408643:N1073S;ENSP00000398798:N1073S	ENSP00000398798:N1073S	N	-	2	0	ZNF142	219216265	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.099000	0.03343	-0.928000	0.03761	-0.250000	0.11733	AAT		0.602	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		11	50	0	0	0	1	0	11	50					C	219508021	T	C	219508021	3	2	47	1	0	0	0	0	1	0	0	0	17746	1493	52	4	1857	4	ZNF142	2	219508021	Missense_Mutation	SNP	T	TCGA-ND-A4WA-01A-12D-A28R-08	20557894	219508021	23691352	12	4415										
KAT2B	8850	broad.mit.edu	37	chr3	20082165	20082165	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	ctgcagcgggcacggccgaaGgaccgggaggcggtggctcg	20	12	0	0			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:20082165G>T	ENST00000263754.4	+	1	651	c.196G>T	c.(196-198)Gga>Tga	p.G66*		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	66					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CACGGCCGAAGGACCGGGAGG	0.746																																						ENST00000263754.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						c.(196-198)Gga>Tga		K(lysine) acetyltransferase 2B							6	6	6					3																	20082165		1748	3613	5361	SO:0001587	stop_gained	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20082165G>T	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"Chromatin-modifying enzymes / K-acetyltransferases"	8638	protein-coding gene	gene with protein product		602303	"p300/CBP-associated factor"	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.196G>T	3.37:g.20082165G>T	ENSP00000263754:p.Gly66*		Somatic					p.G66*	NM_003884.4	NP_003875.3	WXS	Illumina GAIIx	Phase_I	Q92831	KAT2B_HUMAN			1	651	+			66					Q6NSK1	Nonsense_Mutation	SNP	ENST00000263754.4	37	c.196G>T	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	42	9.288937	0.99127	.	.	ENSG00000114166	ENST00000263754	.	.	.	2.13	1.19	0.21007	.	0.490868	0.15913	U	0.238500	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	8.0638	0.30648	0.1548:0.0:0.8452:0.0	.	.	.	.	X	66	.	ENSP00000263754:G66X	G	+	1	0	KAT2B	20057169	1.000000	0.71417	0.993000	0.49108	0.790000	0.44656	2.017000	0.40981	1.184000	0.42957	0.456000	0.33151	GGA		0.746	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		5	17	1	0	5.9392e-07	1	6.51165e-07	5	17					T	20082165	G	T	20082165	4	4	47	1	0	0	0	0	0	1	0	0	7991	1001	35	5	198	5	KAT2B	3	20082165	Nonsense_Mutation	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08		20082165	177940265	13	4416										
TRIM71	131405	broad.mit.edu	37	chr3	32933116	32933116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	agctgtggaccaggaagggcGcatcattgtggcggattcca	15	9	1	0			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:32933116G>A	ENST00000383763.5	+	4	2483	c.2420G>A	c.(2419-2421)cGc>cAc	p.R807H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	807					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						CAGGAAGGGCGCATCATTGTG	0.597																																						ENST00000383763.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2419-2421)cGc>cAc		tripartite motif containing 71, E3 ubiquitin protein ligase							89	95	93					3																	32933116		2053	4201	6254	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32933116G>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.2420G>A	3.37:g.32933116G>A	ENSP00000373272:p.Arg807His		Somatic					p.R807H	NM_001039111.1	NP_001034200.1	WXS	Illumina GAIIx	Phase_I	Q2Q1W2	LIN41_HUMAN			4	2483	+			807						Missense_Mutation	SNP	ENST00000383763.5	37	c.2420G>A	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871648	0.33069	.	.	ENSG00000206557	ENST00000383763	T	0.71817	-0.6	5.72	5.72	0.89469	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	N	0.04245	-0.25	0.80722	D	1	B	0.26845	0.161	B	0.15052	0.012	T	0.49204	-0.8964	10	0.13470	T	0.59	-38.5	18.4265	0.90611	0.0:0.0:1.0:0.0	.	807	Q2Q1W2	LIN41_HUMAN	H	807	ENSP00000373272:R807H	ENSP00000373272:R807H	R	+	2	0	TRIM71	32908120	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.762000	0.98944	2.687000	0.91594	0.655000	0.94253	CGC		0.597	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		4	116	0	0	0	1	0	4	116					A	32933116	G	A	32933116	3	1	47	1	0	0	0	0	1	0	0	0	16559	1087	38	1	2434	1	TRIM71	3	32933116	Missense_Mutation	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08	12850951	32933116	165089314	14	4417										
SCN11A	11280	broad.mit.edu	37	chr3	38949535	38949535	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	ccttttcttattaccaaagaGctttctcttttttggggtaa	6	8	2	1			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:38949535G>C	ENST00000302328.3	-	10	1576	c.1378C>G	c.(1378-1380)Ctc>Gtc	p.L460V	SCN11A_ENST00000456224.3_Missense_Mutation_p.L460V|SCN11A_ENST00000450244.1_Missense_Mutation_p.L460V|AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000444237.2_Missense_Mutation_p.L460V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	460					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)	TTACCAAAGAGCTTTCTCTTT	0.393																																						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.(1378-1380)Ctc>Gtc		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						95	102	100					3																	38949535		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38949535G>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.1378C>G	3.37:g.38949535G>C	ENSP00000307599:p.Leu460Val		Somatic				SCN11A_ENST00000456224.3_Missense_Mutation_p.L460V|SCN11A_ENST00000444237.2_Missense_Mutation_p.L460V|SCN11A_ENST00000450244.1_Missense_Mutation_p.L460V	p.L460V	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)	10	1576	-			460					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.1378C>G	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	8.219	0.802132	0.16397	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96073	-3.9;-3.9;-3.86;-3.77	4.89	-0.106	0.13596	.	1.796430	0.02858	N	0.129874	D	0.85435	0.5696	N	0.12961	0.28	0.09310	N	1	P	0.37781	0.608	B	0.27380	0.079	T	0.81265	-0.1011	10	0.12766	T	0.61	.	0.2398	0.00191	0.2492:0.1663:0.289:0.2956	.	460	Q9UI33	SCNBA_HUMAN	V	460	ENSP00000307599:L460V;ENSP00000400945:L460V;ENSP00000416757:L460V;ENSP00000408028:L460V	ENSP00000307599:L460V	L	-	1	0	SCN11A	38924539	0.000000	0.05858	0.977000	0.42913	0.754000	0.42855	-0.447000	0.06828	-0.029000	0.13827	0.460000	0.39030	CTC		0.393	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		32	42	0	0	0	1	0	32	42					C	38949535	G	C	38949535	3	2	47	1	0	0	0	0	1	0	0	0	13928	971	34	5	4065	5	SCN11A	3	38949535	Missense_Mutation	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08	6016419	38949535	159072895	15	4418										
PARP14	54625	broad.mit.edu	37	chr3	122420030	122420030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	gaaagctgccctaccaccacGtgatccatgcagtggggccc	11	15	0	1			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:122420030G>A	ENST00000474629.2	+	6	2895	c.2629G>A	c.(2629-2631)Gtg>Atg	p.V877M		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	877	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTACCACCACGTGATCCATGC	0.577																																						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.(2629-2631)Gtg>Atg		poly (ADP-ribose) polymerase family, member 14							29	30	29					3																	122420030		1995	4154	6149	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122420030G>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.2629G>A	3.37:g.122420030G>A	ENSP00000418194:p.Val877Met		Somatic					p.V877M	NM_017554.2	NP_060024.2	WXS	Illumina GAIIx	Phase_I	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	2895	+			877			Macro 1.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.2629G>A	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365398	0.61513	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.35789	1.29	6.06	5.19	0.71726	Appr-1-p processing (3);	0.090614	0.46758	N	0.000275	T	0.73218	0.3559	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.87578	0.744;0.998	D	0.83494	0.0071	10	0.87932	D	0	.	14.27	0.66147	0.0718:0.0:0.9282:0.0	.	877;877	Q460N5-4;Q460N5	.;PAR14_HUMAN	M	877;796	ENSP00000418194:V877M	ENSP00000381228:V796M	V	+	1	0	PARP14	123902720	0.995000	0.38212	0.882000	0.34594	0.147000	0.21601	2.188000	0.42612	1.577000	0.49804	-0.150000	0.13652	GTG		0.577	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		10	46	0	0	0	1	0	10	46					A	122420030	G	A	122420030	3	1	47	1	0	0	0	0	1	0	0	0	11467	1145	40	1	2651	1	PARP14	3	122420030	Missense_Mutation	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08	83470495	122420030	75602400	16	4419										
SMC4	10051	broad.mit.edu	37	chr3	160137275	160137275	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	gaagtagggggaaagtccttGatgcaataattcaagaaaaa	11	4	1	2			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:160137275G>C	ENST00000357388.3	+	12	2252	c.1801G>C	c.(1801-1803)Gat>Cat	p.D601H	SMC4_ENST00000469762.1_Missense_Mutation_p.D576H|SMC4_ENST00000462787.1_Missense_Mutation_p.D601H|SMC4_ENST00000360111.2_Missense_Mutation_p.D601H|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.D601H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	601	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)			GAAAGTCCTTGATGCAATAAT	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.(1801-1803)Gat>Cat		structural maintenance of chromosomes 4							60	66	64					3																	160137275		2202	4299	6501	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160137275G>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.1801G>C	3.37:g.160137275G>C	ENSP00000349961:p.Asp601His		Somatic				SMC4_ENST00000344722.5_Missense_Mutation_p.D601H|SMC4_ENST00000469762.1_Missense_Mutation_p.D576H|SMC4_ENST00000462787.1_Missense_Mutation_p.D601H|SMC4_ENST00000360111.2_Missense_Mutation_p.D601H|RP11-432B6.3_ENST00000483754.1_Intron	p.D601H	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)		12	2252	+			601			Flexible hinge.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.1801G>C	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176935	0.78564	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	6.04	5.0	0.66597	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.128394	0.64402	D	0.000001	D	0.92044	0.7479	M	0.83483	2.645	0.80722	D	1	P;P;D;P	0.58970	0.827;0.848;0.984;0.924	P;P;P;P	0.55455	0.448;0.622;0.776;0.742	D	0.92421	0.5945	10	0.56958	D	0.05	-34.8452	16.2231	0.82269	0.0732:0.0:0.9268:0.0	.	601;576;576;601	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	H	601;601;576;601;601;195	ENSP00000349961:D601H;ENSP00000353225:D601H;ENSP00000417964:D576H;ENSP00000420734:D601H;ENSP00000341382:D601H	ENSP00000341382:D601H	D	+	1	0	SMC4	161619969	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.364000	0.66110	2.873000	0.98535	0.563000	0.77884	GAT		0.338	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			66	39	0	0	0	1	0	66	39					C	160137275	G	C	160137275	3	2	47	1	0	0	0	0	1	0	0	0	14800	1290	45	2	1843	2	SMC4	3	160137275	Missense_Mutation	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08	37717245	160137275	37885155	17	4420										
EIF4G1	1981	broad.mit.edu	37	chr3	184046479	184046480	+	Frame_Shift_Ins	INS	-	-	TACCTAGCGGA													0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	acatcccccacgtgtggctcINStacctagcggaactggtaac					rs185303351		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:184046479_184046480insTACCTAGCGGA	ENST00000346169.2	+	27	4285_4286	c.4014_4015insTACCTAGCGGA	c.(4015-4017)tacfs	p.-1339fs	EIF4G1_ENST00000435046.2_Frame_Shift_Ins_p.-1143fs|EIF4G1_ENST00000342981.4_Frame_Shift_Ins_p.-1340fs|EIF4G1_ENST00000424196.1_Frame_Shift_Ins_p.-1346fs|EIF4G1_ENST00000392537.2_Frame_Shift_Ins_p.-1252fs|EIF4G1_ENST00000427845.1_Frame_Shift_Ins_p.-1253fs|EIF4G1_ENST00000352767.3_Frame_Shift_Ins_p.-1346fs|EIF4G1_ENST00000350481.5_Frame_Shift_Ins_p.-1175fs|EIF4G1_ENST00000434061.2_Frame_Shift_Ins_p.-1144fs|EIF4G1_ENST00000414031.1_Frame_Shift_Ins_p.-1299fs|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000319274.6_Frame_Shift_Ins_p.-1339fs|EIF4G1_ENST00000382330.3_Frame_Shift_Ins_p.-1346fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Frame_Shift_Ins_p.-1176fs|EIF4G1_ENST00000411531.1_Frame_Shift_Ins_p.-1300fs	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1						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.L1338L(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)			ACGTGTGGCTCTACCTAGCGGA	0.525																																						ENST00000342981.4																			1	Substitution - coding silent(1)	p.L1338L(1)	lung(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.(4015-4020)ctacctfs		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.chr3:184046479_184046480insTACCTAGCGGA	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.4015_4025dupTACCTAGCGGA	3.37:g.184046480_184046490dupTACCTAGCGGA	ENSP00000316879:p.Tyr1339fs		Somatic				EIF4G1_ENST00000392537.2_Frame_Shift_Ins_p.P1252fs|EIF4G1_ENST00000434061.2_Frame_Shift_Ins_p.P1144fs|EIF4G1_ENST00000435046.2_Frame_Shift_Ins_p.P1143fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Frame_Shift_Ins_p.P1346fs|EIF4G1_ENST00000411531.1_Frame_Shift_Ins_p.P1300fs|EIF4G1_ENST00000414031.1_Frame_Shift_Ins_p.P1299fs|EIF4G1_ENST00000382330.3_Frame_Shift_Ins_p.P1346fs|EIF4G1_ENST00000350481.5_Frame_Shift_Ins_p.P1175fs|EIF4G1_ENST00000424196.1_Frame_Shift_Ins_p.P1346fs|EIF4G1_ENST00000441154.1_Frame_Shift_Ins_p.P1176fs|EIF4G1_ENST00000319274.6_Frame_Shift_Ins_p.P1339fs|EIF4G1_ENST00000346169.2_Frame_Shift_Ins_p.P1339fs|EIF4G1_ENST00000427845.1_Frame_Shift_Ins_p.P1253fs	p.P1340fs	NM_182917.4	NP_886553.3	WXS	Illumina GAIIx	Phase_I	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		26	4431_4432	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1339			MI.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Frame_Shift_Ins	INS	ENST00000346169.2	37	c.4017_4018insTACCTAGCGGA	CCDS3259.1																																																																																				0.525	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		12	284						12	284	---	---	---	---	TACCTAGCGGA	184046480	-	TACCTAGCGGA	184046479	7	5	47	1	0	1	1	0	0	0	0	0	5038	900	32	0	4112	0	EIF4G1	3	184046479	Frame_Shift_Ins	INS	-	TCGA-ND-A4WA-01A-12D-A28R-08	23909204	184046479	13975951	18	4421										
OSTN	344901	broad.mit.edu	37	chr3	190967905	190967905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	accggctttcaaattccagaGgctaattgattccaattgtg	8	9	1	2			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:190967905G>A	ENST00000339051.1	+	3	397	c.397G>A	c.(397-399)Ggc>Agc	p.G133S	OSTN_ENST00000445281.1_Intron	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	133					cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|endochondral bone growth (GO:0003416)|negative regulation of glucose import (GO:0046325)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)	extracellular space (GO:0005615)				kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		AAATTCCAGAGGCTAATTGAT	0.368																																						ENST00000339051.1																			0				kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13						c.(397-399)Ggc>Agc		osteocrin							95	99	98					3																	190967905		2203	4300	6503	SO:0001583	missense	344901				cell differentiation|multicellular organismal development|ossification		hormone activity	g.chr3:190967905G>A	AY398681	CCDS3299.1	3q29	2004-01-22			ENSG00000188729	ENSG00000188729			29961	protein-coding gene	gene with protein product		610280				14523025	Standard	NM_198184		Approved		uc011bsn.2	P61366	OTTHUMG00000156190	ENST00000339051.1:c.397G>A	3.37:g.190967905G>A	ENSP00000342356:p.Gly133Ser		Somatic				OSTN_ENST00000445281.1_Intron	p.G133S	NM_198184.1	NP_937827.1	WXS	Illumina GAIIx	Phase_I	P61366	OSTN_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)	3	397	+	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		133					A1A4U3	Missense_Mutation	SNP	ENST00000339051.1	37	c.397G>A	CCDS3299.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612943	0.87258	.	.	ENSG00000188729	ENST00000339051	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.76535	0.4001	M	0.61703	1.905	0.44694	D	0.997681	D	0.89917	1.0	D	0.91635	0.999	T	0.78494	-0.2182	9	0.87932	D	0	-45.2696	14.7921	0.69851	0.0:0.0:1.0:0.0	.	133	P61366	OSTN_HUMAN	S	133	.	ENSP00000342356:G133S	G	+	1	0	OSTN	192450599	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.209000	0.51122	2.566000	0.86566	0.655000	0.94253	GGC		0.368	OSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343350.1	NM_198184		43	60	0	0	0	1	0	43	60					A	190967905	G	A	190967905	3	1	47	1	0	0	0	0	1	0	0	0	11308	1000	35	3	407	3	OSTN	3	190967905	Missense_Mutation	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08	6921426	190967905	7054525	19	4422										
IL2	3558	broad.mit.edu	37	chr4	123374885	123374885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	ctttagttccagaactattaCgttgatattgctgattaagt	7	6	0	3			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr4:123374885C>T	ENST00000226730.4	-	3	615	c.331G>A	c.(331-333)Gta>Ata	p.V111I		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	111					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|immune response (GO:0006955)|natural killer cell activation (GO:0030101)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of heart contraction (GO:0045822)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of T cell homeostatic proliferation (GO:0046013)|T cell differentiation (GO:0030217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|cytokine activity (GO:0005125)|glycosphingolipid binding (GO:0043208)|growth factor activity (GO:0008083)|interleukin-2 receptor binding (GO:0005134)|kinase activator activity (GO:0019209)	p.V111L(1)		endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)	Pseudoephedrine(DB00852)	AGAACTATTACGTTGATATTG	0.353			T	TNFRSF17	intestinal T-cell lymphoma																																	ENST00000226730.4				Dom	yes		4	4q26-q27	3558	T	interleukin 2			L	TNFRSF17		intestinal T-cell lymphoma		1	Substitution - Missense(1)	p.V111L(1)	endometrium(1)	endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13						c.(331-333)Gta>Ata		interleukin 2							140	139	140					4																	123374885		2203	4300	6503	SO:0001583	missense	3558				anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	g.chr4:123374885C>T	U25676	CCDS3726.1	4q26-q27	2011-07-14			ENSG00000109471	ENSG00000109471		"Interleukins and interleukin receptors"	6001	protein-coding gene	gene with protein product	"T cell growth factor"	147680				3260003	Standard	NM_000586		Approved	IL-2, TCGF	uc003ier.3	P60568	OTTHUMG00000133075	ENST00000226730.4:c.331G>A	4.37:g.123374885C>T	ENSP00000226730:p.Val111Ile		Somatic					p.V111I	NM_000586.3	NP_000577.2	WXS	Illumina GAIIx	Phase_I	P60568	IL2_HUMAN		LUSC - Lung squamous cell carcinoma(721;0.185)	3	615	-			111					P01585	Missense_Mutation	SNP	ENST00000226730.4	37	c.331G>A	CCDS3726.1	.	.	.	.	.	.	.	.	.	.	C	1.799	-0.477621	0.04414	.	.	ENSG00000109471	ENST00000226730	.	.	.	4.1	0.342	0.15996	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.727889	0.11874	N	0.521135	T	0.29652	0.0740	L	0.46819	1.47	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.22871	-1.0204	9	0.34782	T	0.22	-1.5625	3.0734	0.06239	0.1897:0.4846:0.0:0.3257	.	111	P60568	IL2_HUMAN	I	111	.	ENSP00000226730:V111I	V	-	1	0	IL2	123594335	0.000000	0.05858	0.000000	0.03702	0.149000	0.21700	0.123000	0.15708	0.021000	0.15133	-0.384000	0.06662	GTA		0.353	IL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256715.2			16	18	0	0	0	1	0	16	18					T	123374885	C	T	123374885	3	4	47	1	0	0	0	0	1	0	0	0	7675	536	19	1	138	1	IL2	4	123374885	Missense_Mutation	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08		123374885	67779391	20	4423										
LARP1B	55132	broad.mit.edu	37	chr4	129128488	129128488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	cacagtctattgacccaaaaCttcaggaatacctctgtagt	6	11	3	1			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr4:129128488C>T	ENST00000326639.6	+	19	2708	c.2497C>T	c.(2497-2499)Ctt>Ttt	p.L833F	LARP1B_ENST00000264584.5_Missense_Mutation_p.L774F|LARP1B_ENST00000354456.3_Missense_Mutation_p.L252F|LARP1B_ENST00000441387.1_3'UTR|LARP1B_ENST00000506199.1_3'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	833						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TGACCCAAAACTTCAGGAATA	0.313																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(2497-2499)Ctt>Ttt		La ribonucleoprotein domain family, member 1B							57	61	59					4																	129128488		2202	4292	6494	SO:0001583	missense	55132						RNA binding	g.chr4:129128488C>T		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2497C>T	4.37:g.129128488C>T	ENSP00000321997:p.Leu833Phe		Somatic				LARP1B_ENST00000264584.5_Missense_Mutation_p.L774F|LARP1B_ENST00000354456.3_Missense_Mutation_p.L252F|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000441387.1_3'UTR	p.L833F	NM_018078.2	NP_060548.2	WXS	Illumina GAIIx	Phase_I	Q659C4	LAR1B_HUMAN			19	2708	+			833					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.2497C>T	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561895	0.45590	.	.	ENSG00000138709	ENST00000326639;ENST00000264584;ENST00000354456	T;T;T	0.04049	3.72;3.72;3.72	4.32	4.32	0.51571	.	0.000000	0.64402	D	0.000001	T	0.24586	0.0596	M	0.89968	3.075	0.47994	D	0.999564	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.999	T	0.01909	-1.1249	10	0.87932	D	0	.	10.6408	0.45592	0.0:0.9123:0.0:0.0877	.	43;252;833	Q659C4-8;Q659C4-5;Q659C4	.;.;LAR1B_HUMAN	F	833;774;252	ENSP00000321997:L833F;ENSP00000264584:L774F;ENSP00000346444:L252F	ENSP00000264584:L774F	L	+	1	0	LARP1B	129347938	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	3.672000	0.54583	2.211000	0.71520	0.561000	0.74099	CTT		0.313	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		10	9	0	0	0	1	0	10	9					T	129128488	C	T	129128488	3	4	47	1	0	0	0	0	1	0	0	0	8638	565	20	3	2697	3	LARP1B	4	129128488	Missense_Mutation	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08	5753603	129128488	62025788	21	4424										
MTNR1A	4543	broad.mit.edu	37	chr4	187455100	187455100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	gatcctaggcaccatgctggCggggtcagaggccacggcca	15	13	1	1	rs148793802	byFrequency	TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr4:187455100C>T	ENST00000307161.5	-	2	997	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	266					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	ACCATGCTGGCGGGGTCAGAG	0.507													C|||	6	0.00119808	0	0	5008	,	,		19771	0		0.006	False		,,,				2504	0					ENST00000307161.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14						c.(796-798)Gcc>Acc		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)	C	THR/ALA	1,4405		0,1,2202	72	79	76		796	3.2	0	4	dbSNP_134	76	5,8595	3.7+/-12.6	0,5,4295	yes	missense	MTNR1A	NM_005958.3	58	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	benign	266/351	187455100	6,13000	2203	4300	6503	SO:0001583	missense	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187455100C>T		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"GPCR / Class A : Melatonin receptors"	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.796G>A	4.37:g.187455100C>T	ENSP00000302811:p.Ala266Thr		Somatic				RP11-215A19.2_ENST00000509111.1_Intron	p.A266T	NM_005958.3	NP_005949.1	WXS	Illumina GAIIx	Phase_I	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	997	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	266					A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	c.796G>A	CCDS3848.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	1.808	-0.475429	0.04414	2.27E-4	5.81E-4	ENSG00000168412	ENST00000307161	T	0.71579	-0.58	4.96	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.667620	0.15692	N	0.249369	T	0.52757	0.1754	N	0.25825	0.765	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.33137	-0.9880	10	0.21014	T	0.42	-2.2721	7.511	0.27573	0.1342:0.7171:0.0:0.1487	.	266	P48039	MTR1A_HUMAN	T	266	ENSP00000302811:A266T	ENSP00000302811:A266T	A	-	1	0	MTNR1A	187692094	0.011000	0.17503	0.002000	0.10522	0.003000	0.03518	0.765000	0.26546	1.082000	0.41137	0.655000	0.94253	GCC		0.507	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			39	49	0	0	0	1	0	39	49					T	187455100	C	T	187455100	3	4	47	1	0	0	0	0	1	0	0	0	9960	768	27	1	260	1	MTNR1A	4	187455100	Missense_Mutation	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08	58326612	187455100	3699176	22	4425										
SLC12A7	10723	broad.mit.edu	37	chr5	1093658	1093658	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	gtggcagtaccttggcctccCgccgccggctctcctcgtcc	11	19	1	0	rs562501613		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr5:1093658C>A	ENST00000264930.5	-	3	375	c.332G>T	c.(331-333)cGg>cTg	p.R111L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	111					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)	CTTGGCCTCCCGCCGCCGGCT	0.662																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(331-333)cGg>cTg		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						67	47	54					5																	1093658		2185	4289	6474	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1093658C>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.332G>T	5.37:g.1093658C>A	ENSP00000264930:p.Arg111Leu		Somatic					p.R111L	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)		3	375	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		111					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.332G>T	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	6.684	0.494726	0.12702	.	.	ENSG00000113504	ENST00000264930;ENST00000343658	D	0.85013	-1.93	3.86	1.57	0.23409	.	0.437879	0.21556	N	0.072652	T	0.76550	0.4003	L	0.46157	1.445	0.09310	N	1	B	0.24651	0.108	B	0.20767	0.031	T	0.66131	-0.6000	10	0.48119	T	0.1	.	6.1389	0.20249	0.0:0.6289:0.0:0.3711	.	111	Q9Y666	S12A7_HUMAN	L	111	ENSP00000264930:R111L	ENSP00000264930:R111L	R	-	2	0	SLC12A7	1146658	0.000000	0.05858	0.022000	0.16811	0.029000	0.11900	0.545000	0.23268	0.757000	0.33036	0.455000	0.32223	CGG		0.662	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		4	1	1	0	0.00909568	1	0.00930008	4	1					A	1093658	C	A	1093658	3	1	47	1	0	0	0	0	1	0	0	0	14403	652	23	5	3007	5	SLC12A7	5	1093658	Missense_Mutation	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08		1093658	179821602	23	4426										
ADCY2	108	broad.mit.edu	37	chr5	7709333	7709333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	ctcaccccaagggagaacgaCggagcccccagcatctcttc	9	17	2	1			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr5:7709333C>T	ENST00000338316.4	+	10	1500	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W	ADCY2_ENST00000537121.1_Missense_Mutation_p.R291W|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	471					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						GGGAGAACGACGGAGCCCCCA	0.587																																						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.(1411-1413)Cgg>Tgg		adenylate cyclase 2 (brain)							63	59	61					5																	7709333		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.chr5:7709333C>T	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.1411C>T	5.37:g.7709333C>T	ENSP00000342952:p.Arg471Trp		Somatic				RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.R291W	p.R471W	NM_020546.2	NP_065433.2	WXS	Illumina GAIIx	Phase_I	Q08462	ADCY2_HUMAN			10	1500	+			471					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1411C>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	c	18.06	3.539393	0.65085	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.82167	-1.11;-1.58	5.62	2.72	0.32119	.	0.231720	0.35708	N	0.003037	D	0.82935	0.5145	L	0.42245	1.32	0.32307	N	0.564209	D;D	0.69078	0.997;0.995	P;P	0.57468	0.821;0.757	D	0.84299	0.0504	10	0.72032	D	0.01	.	8.6077	0.33784	0.3958:0.5374:0.0:0.0668	.	291;471	B7Z2C1;Q08462	.;ADCY2_HUMAN	W	471;322;291	ENSP00000342952:R471W;ENSP00000444803:R291W	ENSP00000342952:R471W	R	+	1	2	ADCY2	7762333	0.911000	0.30947	0.623000	0.29173	0.932000	0.56968	1.452000	0.35156	0.704000	0.31869	-0.319000	0.08680	CGG		0.587	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		15	24	0	0	0	1	0	15	24					T	7709333	C	T	7709333	3	4	47	1	0	0	0	0	1	0	0	0	294	527	19	1	1449	1	ADCY2	5	7709333	Missense_Mutation	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08	6615675	7709333	173205927	24	4427										
SQSTM1	8878	broad.mit.edu	37	chr5	179251284	179251284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	actggagcccacgtcctcctCgtgcaggggaggcccgccct	13	17	0	0	rs201263163		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr5:179251284C>T	ENST00000389805.4	+	4	812	c.634C>T	c.(634-636)Cgt>Tgt	p.R212C	SQSTM1_ENST00000376929.3_Missense_Mutation_p.R128C|SQSTM1_ENST00000510187.1_Missense_Mutation_p.R212C|SQSTM1_ENST00000402874.3_Missense_Mutation_p.R128C|SQSTM1_ENST00000360718.5_Missense_Mutation_p.R128C	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	212	Interaction with GABRR3. {ECO:0000250}.|LIM protein-binding (LB).				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACGTCCTCCTCGTGCAGGGGA	0.622																																						ENST00000389805.4																		SQSTM1/ALK(2)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13						c.(634-636)Cgt>Tgt		sequestosome 1		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	54	59	57		382,382,634	3.7	0.5	5		57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SQSTM1	NM_001142298.1,NM_001142299.1,NM_003900.4	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	128/357,128/357,212/441	179251284	1,13005	2203	4300	6503	SO:0001583	missense	8878				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179251284C>T	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"Paget disease of bone 3", "oxidative stress induced like"	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.634C>T	5.37:g.179251284C>T	ENSP00000374455:p.Arg212Cys		Somatic				SQSTM1_ENST00000402874.3_Missense_Mutation_p.R128C|SQSTM1_ENST00000360718.5_Missense_Mutation_p.R128C|SQSTM1_ENST00000376929.3_Missense_Mutation_p.R128C|SQSTM1_ENST00000510187.1_Missense_Mutation_p.R212C	p.R212C	NM_003900.4	NP_003891.1	WXS	Illumina GAIIx	Phase_I	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	812	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	212			Interaction with GABRR3 (By similarity).|LIM protein-binding (LB).		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.634C>T	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541000	0.27563	0.0	1.16E-4	ENSG00000161011	ENST00000376929;ENST00000514093;ENST00000422245;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	D;T;T;D;D;T;D	0.82893	-1.66;1.84;1.46;-1.66;-1.66;2.4;-1.66	4.61	3.72	0.42706	.	0.628331	0.17023	N	0.190047	T	0.78168	0.4241	L	0.44542	1.39	0.26976	N	0.965472	P;D	0.56287	0.9;0.975	B;B	0.44315	0.2;0.446	T	0.69514	-0.5125	10	0.46703	T	0.11	-3.7211	10.9568	0.47362	0.0:0.8099:0.1901:0.0	.	212;212	Q13501;E7EMC7	SQSTM_HUMAN;.	C	128;128;128;212;68;128;212;128	ENSP00000366128:R128C;ENSP00000427308:R128C;ENSP00000394534:R128C;ENSP00000374455:R212C;ENSP00000385553:R128C;ENSP00000424477:R212C;ENSP00000353944:R128C	ENSP00000353944:R128C	R	+	1	0	SQSTM1	179183890	0.011000	0.17503	0.454000	0.27019	0.198000	0.23893	0.248000	0.18198	1.039000	0.40074	-0.305000	0.09177	CGT		0.622	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			19	29	0	0	0	1	0	19	29					T	179251284	C	T	179251284	3	4	47	1	0	0	0	0	1	0	0	0	15145	884	31	1	648	1	SQSTM1	5	179251284	Missense_Mutation	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08	171541951	179251284	1663976	25	4428										
HIST1H3G	8355	broad.mit.edu	37	chr6	26271424	26271424	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	cgttggaaaggcaacttgcgGatcagcagctcagtcgactt	12	10	2	0			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr6:26271424G>A	ENST00000305910.3	-	1	188	c.189C>T	c.(187-189)atC>atT	p.I63I	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	63					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GCAACTTGCGGATCAGCAGCT	0.617																																						ENST00000305910.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(187-189)atC>atT		histone cluster 1, H3g							75	77	76					6																	26271424		2203	4300	6503	SO:0001819	synonymous_variant	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271424G>A	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"Histones / Replication-dependent"	4772	protein-coding gene	gene with protein product		602815	"H3 histone family, member H", "histone 1, H3g"	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.189C>T	6.37:g.26271424G>A			Somatic					p.I63I	NM_003534.2	NP_003525.1	WXS	Illumina GAIIx	Phase_I	P68431	H31_HUMAN			1	188	-			63					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000305910.3	37	c.189C>T	CCDS4602.1																																																																																				0.617	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		49	96	0	0	0	1	0	49	96					A	26271424	G	A	26271424	2	1	47	1	0	0	0	0	0	0	0	1	7170	1164	41	3		3	HIST1H3G	6	26271424	Silent	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08		26271424	144843643	26	4429										
ICK	22858	broad.mit.edu	37	chr6	52884097	52884097	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	ccaaaccaaagtctgcaattTtcacaagttctggtcccatg	6	12	3	0			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr6:52884097T>G	ENST00000350082.5	-	6	765	c.419A>C	c.(418-420)aAa>aCa	p.K140T	ICK_ENST00000356971.3_Missense_Mutation_p.K140T	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	140	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)			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)					GTCTGCAATTTTCACAAGTTC	0.388																																						ENST00000356971.3																			0				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.(418-420)aAa>aCa		intestinal cell (MAK-like) kinase							86	82	83					6																	52884097		2203	4300	6503	SO:0001583	missense	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52884097T>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.419A>C	6.37:g.52884097T>G	ENSP00000263043:p.Lys140Thr		Somatic				ICK_ENST00000350082.5_Missense_Mutation_p.K140T	p.K140T	NM_016513.4	NP_057597.2	WXS	Illumina GAIIx	Phase_I	Q9UPZ9	ICK_HUMAN			7	908	-	Lung NSC(77;0.103)		140			Protein kinase.		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	ENST00000350082.5	37	c.419A>C	CCDS4949.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.885897	0.91814	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.63580	-0.05;-0.05	5.24	5.24	0.73138	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	0.82884	0.5134	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88145	0.2847	10	0.87932	D	0	-23.6902	15.5966	0.76587	0.0:0.0:0.0:1.0	.	140;140	Q9UPZ9-2;Q9UPZ9	.;ICK_HUMAN	T	140	ENSP00000263043:K140T;ENSP00000349458:K140T	ENSP00000263043:K140T	K	-	2	0	ICK	52992056	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.825000	0.86693	2.326000	0.78906	0.533000	0.62120	AAA		0.388	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513		8	27	0	0	0	1	0	8	27					G	52884097	T	G	52884097	3	3	47	1	0	0	0	0	1	0	0	0	7493	1841	64	4	1515	4	ICK	6	52884097	Missense_Mutation	SNP	T	TCGA-ND-A4WA-01A-12D-A28R-08	26612673	52884097	118230970	27	4430										
MICAL1	64780	broad.mit.edu	37	chr6	109775014	109775014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	gcgccagctccacagcgaccCgcagcccgcaaggtccagca	11	19	0	0			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr6:109775014C>T	ENST00000358807.3	-	3	604	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000368952.4_Missense_Mutation_p.R117Q|MICAL1_ENST00000358577.3_Missense_Mutation_p.R98Q	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	98	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CACAGCGACCCGCAGCCCGCA	0.657																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(349-351)cGg>cAg		microtubule associated monooxygenase, calponin and LIM domain containing 1							70	64	66					6																	109775014		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109775014C>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.293G>A	6.37:g.109775014C>T	ENSP00000351664:p.Arg98Gln		Somatic				MICAL1_ENST00000358577.3_Missense_Mutation_p.R98Q|MICAL1_ENST00000358807.3_Missense_Mutation_p.R98Q	p.R117Q			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)	3	640	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	98					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.350G>A	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	36	5.618195	0.96649	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000431946	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.41	5.41	0.78517	Monooxygenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	N	0.04508	-0.205	0.47778	D	0.999517	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.57877	-0.7735	10	0.87932	D	0	.	16.7269	0.85424	0.0:1.0:0.0:0.0	.	117;98;98	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	Q	98;117;98;98	ENSP00000351664:R98Q;ENSP00000357948:R117Q;ENSP00000351385:R98Q;ENSP00000407075:R98Q	ENSP00000351385:R98Q	R	-	2	0	MICAL1	109881707	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	7.617000	0.83032	2.815000	0.96918	0.561000	0.74099	CGG		0.657	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		66	35	0	0	0	1	0	66	35					T	109775014	C	T	109775014	3	4	47	1	0	0	0	0	1	0	0	0	9578	652	23	1	3002	1	MICAL1	6	109775014	Missense_Mutation	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08	56890917	109775014	61340053	28	4431										
SEMA3D	223117	broad.mit.edu	37	chr7	84628909	84628909	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	atctgttcgcagtactggtcGaggctgaagtttgggctgct	14	8	1	1			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr7:84628909G>A	ENST00000284136.6	-	17	2224	c.2181C>T	c.(2179-2181)ctC>ctT	p.L727L	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	727					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						AGTACTGGTCGAGGCTGAAGT	0.512																																					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.(2179-2181)ctC>ctT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							168	142	151					7																	84628909		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84628909G>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2181C>T	7.37:g.84628909G>A			Somatic				SEMA3D_ENST00000484038.1_5'UTR	p.L727L	NM_152754.2	NP_689967.2	WXS	Illumina GAIIx	Phase_I	O95025	SEM3D_HUMAN			17	2224	-			727					A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.2181C>T	CCDS34676.1																																																																																				0.512	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		20	42	0	0	0	1	0	20	42					A	84628909	G	A	84628909	2	1	47	1	0	0	0	0	0	0	0	1	14042	1045	37	1		1	SEMA3D	7	84628909	Silent	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08		84628909	74509754	29	4432										
PKHD1L1	93035	broad.mit.edu	37	chr8	110457553	110457553	+	Frame_Shift_Del	DEL	A	A	-													0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	ttagtgttgtggtgggaagtAaaggcttggctctgggaaac							TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr8:110457553delA	ENST00000378402.5	+	38	5559	c.5455delA	c.(5455-5457)aaafs	p.K1819fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1819	IPT/TIG 10.				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)			GGTGGGAAGTAAAGGCTTGGC	0.478										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.(5455-5457)aafs		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							101	100	101					8																	110457553		1970	4163	6133	SO:0001589	frameshift_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457553delA	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.5455delA	8.37:g.110457553delA	ENSP00000367655:p.Lys1819fs	HNSCC(38;0.096)	Somatic					p.K1819fs	NM_177531.4	NP_803875.2	WXS	Illumina GAIIx	Phase_I	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5559	+			1819			IPT/TIG 10.		Q567P2|Q9UF27	Frame_Shift_Del	DEL	ENST00000378402.5	37	c.5455delA	CCDS47911.1																																																																																				0.478	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		20	50						20	50	---	---	---	---	-	110457553	A	-	110457553	7	5	47	1	0	1	0	1	0	0	0	0	11981	363	13	0	5605	0	PKHD1L1	8	110457553	Frame_Shift_Del	DEL	A	TCGA-ND-A4WA-01A-12D-A28R-08		110457553	35906469	30	4433										
OR51E2	81285	broad.mit.edu	37	chr11	4703777	4703777	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	agaaagaggtacatcggagcGtgcaggctgcgttccgtcct	14	10	0	2	rs376037939	byFrequency	TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr11:4703777G>A	ENST00000396950.3	-	2	404	c.165C>T	c.(163-165)caC>caT	p.H55H		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	55					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACATCGGAGCGTGCAGGCTGC	0.517													G|||	3	0.000599042	0	0	5008	,	,		21712	0		0	False		,,,				2504	0.0031					ENST00000396950.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(163-165)caC>caT		olfactory receptor, family 51, subfamily E, member 2		G		0,4402		0,0,2201	117	98	104		165	-2.8	0	11		104	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	OR51E2	NM_030774.3		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		55/321	4703777	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703777G>A	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"GPCR / Class A : Olfactory receptors"	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.165C>T	11.37:g.4703777G>A			Somatic					p.H55H	NM_030774.3	NP_110401.1	WXS	Illumina GAIIx	Phase_I	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	404	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	55					B2RA63|Q6IF94	Silent	SNP	ENST00000396950.3	37	c.165C>T	CCDS7751.1																																																																																				0.517	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		6	77	0	0	0	1	0	6	77					A	4703777	G	A	4703777	2	1	47	1	0	0	0	0	0	0	0	1	11104	1136	40	1		1	OR51E2	11	4703777	Silent	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08		4703777	130302739	31	4434										
ABCC8	6833	broad.mit.edu	37	chr11	17419890	17419890	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	ggggaatagcacttgccattCggacttccagccatctgttg	11	11	1	0			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr11:17419890C>T	ENST00000389817.3	-	30	3817	c.3749G>A	c.(3748-3750)cGa>cAa	p.R1250Q	ABCC8_ENST00000302539.4_Missense_Mutation_p.R1251Q			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1250	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)	p.R1250Q(1)		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)	ACTTGCCATTCGGACTTCCAG	0.542																																						ENST00000302539.4																			1	Substitution - Missense(1)	p.R1250Q(1)	large_intestine(1)	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.(3751-3753)cGa>cAa		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						190	165	173					11																	17419890		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.chr11:17419890C>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.3749G>A	11.37:g.17419890C>T	ENSP00000374467:p.Arg1250Gln		Somatic				ABCC8_ENST00000389817.3_Missense_Mutation_p.R1250Q	p.R1251Q	NM_000352.3	NP_000343.2	WXS	Illumina GAIIx	Phase_I	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	30	3877	-			1250			ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3752G>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	36	5.669229	0.96754	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.89810	-2.57;-2.57	5.46	5.46	0.80206	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	0.97065	0.9041	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98192	1.0463	10	0.62326	D	0.03	.	19.3005	0.94143	0.0:1.0:0.0:0.0	.	1250	Q09428	ABCC8_HUMAN	Q	1250;1251	ENSP00000374467:R1250Q;ENSP00000303960:R1251Q	ENSP00000303960:R1251Q	R	-	2	0	ABCC8	17376466	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.576000	0.86940	0.555000	0.69702	CGA		0.542	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		24	17	0	0	0	1	0	24	17					T	17419890	C	T	17419890	3	4	47	1	0	0	0	0	1	0	0	0	58	884	31	1	1036	1	ABCC8	11	17419890	Missense_Mutation	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08	12716113	17419890	117586626	32	4435										
CLEC12A	160364	broad.mit.edu	37	chr12	10132100	10132100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	aatagccaccaaattatgtcGtgagctatatagcaaagaac	7	8	0	2			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr12:10132100G>A	ENST00000304361.4	+	3	538	c.356G>A	c.(355-357)cGt>cAt	p.R119H	CLEC12A_ENST00000434319.2_Missense_Mutation_p.R119H|CLEC12A_ENST00000350667.4_Missense_Mutation_p.R86H|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R129H	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						AAATTATGTCGTGAGCTATAT	0.343																																					Melanoma(197;1487 2125 16611 22221 34855)	ENST00000304361.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						c.(355-357)cGt>cAt		C-type lectin domain family 12, member A							78	71	74					12																	10132100		2203	4300	6503	SO:0001583	missense	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10132100G>A	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"C-type lectin domain containing"	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.356G>A	12.37:g.10132100G>A	ENSP00000302804:p.Arg119His		Somatic				CLEC12A_ENST00000434319.2_Missense_Mutation_p.R119H|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R129H|CLEC12A_ENST00000350667.4_Missense_Mutation_p.R86H	p.R119H	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	WXS	Illumina GAIIx	Phase_I	Q5QGZ9	CL12A_HUMAN			3	538	+			119					B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	ENST00000304361.4	37	c.356G>A	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406685	0.25378	.	.	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319;ENST00000350667	T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28	4.72	-5.5	0.02576	C-type lectin-like (1);	.	.	.	.	T	0.10594	0.0259	L	0.31420	0.93	0.09310	N	1	P;P;P	0.37233	0.588;0.453;0.588	B;B;B	0.29524	0.103;0.048;0.103	T	0.04440	-1.0951	9	0.33940	T	0.23	.	16.1218	0.81361	0.2007:0.0:0.7993:0.0	.	86;119;129	Q5QGZ9-4;Q5QGZ9;Q5QGZ9-1	.;CL12A_HUMAN;.	H	129;119;119;119;86	ENSP00000347916:R129H;ENSP00000379764:R119H;ENSP00000302804:R119H;ENSP00000405244:R119H;ENSP00000345448:R86H	ENSP00000302804:R119H	R	+	2	0	CLEC12A	10023367	0.001000	0.12720	0.000000	0.03702	0.259000	0.26198	-0.278000	0.08490	-1.015000	0.03375	-0.312000	0.09012	CGT		0.343	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		14	9	0	0	0	1	0	14	9					A	10132100	G	A	10132100	3	1	47	1	0	0	0	0	1	0	0	0	3499	1145	40	1	366	1	CLEC12A	12	10132100	Missense_Mutation	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08		10132100	123719795	33	4436										
PXN	5829	broad.mit.edu	37	chr12	120660787	120660787	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	ggtgaaggctcagctgatttCtgcttgttggggaagctttg	15	6	2	2			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr12:120660787C>G	ENST00000228307.7	-	4	513	c.372G>C	c.(370-372)caG>caC	p.Q124H	PXN_ENST00000536957.1_Missense_Mutation_p.Q122H|PXN_ENST00000458477.2_5'UTR|PXN_ENST00000424649.2_Missense_Mutation_p.Q124H|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000267257.7_Missense_Mutation_p.Q124H	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	124					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCTGATTTCTGCTTGTTGG	0.522																																						ENST00000536957.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(364-366)caG>caC		paxillin							101	103	103					12																	120660787		2036	4185	6221	SO:0001583	missense	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120660787C>G	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.372G>C	12.37:g.120660787C>G	ENSP00000228307:p.Gln124His		Somatic				PXN_ENST00000424649.2_Missense_Mutation_p.Q124H|PXN_ENST00000267257.7_Missense_Mutation_p.Q124H|PXN_ENST00000458477.2_5'UTR|PXN_ENST00000228307.7_Missense_Mutation_p.Q124H|PXN_ENST00000538144.1_5'UTR	p.Q122H			WXS	Illumina GAIIx	Phase_I	P49023	PAXI_HUMAN			4	841	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		124					B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	c.366G>C	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205639	0.58234	.	.	ENSG00000089159	ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000543331	T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16	5.2	5.2	0.72013	.	0.059426	0.64402	D	0.000002	T	0.76593	0.4009	M	0.74258	2.255	0.80722	D	1	D;B	0.76494	0.999;0.02	D;B	0.85130	0.997;0.086	T	0.76735	-0.2850	10	0.44086	T	0.13	-10.9845	18.7469	0.91797	0.0:1.0:0.0:0.0	.	124;124	P49023-2;P49023	.;PAXI_HUMAN	H	124;124;122;124;125	ENSP00000228307:Q124H;ENSP00000391283:Q124H;ENSP00000443887:Q122H;ENSP00000267257:Q124H;ENSP00000443745:Q125H	ENSP00000228307:Q124H	Q	-	3	2	PXN	119145170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.480000	0.45206	2.442000	0.82660	0.591000	0.81541	CAG		0.522	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		25	28	0	0	0	1	0	25	28					G	120660787	C	G	120660787	3	3	47	1	0	0	0	0	1	0	0	0	12867	912	32	2	1439	2	PXN	12	120660787	Missense_Mutation	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08	110528687	120660787	13191108	34	4437										
TMEM132D	121256	broad.mit.edu	37	chr12	129822360	129822360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	cctcgtaggaggcgccatccGcactggagagaagacacaga	13	12	0	3			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr12:129822360G>A	ENST00000422113.2	-	4	1444	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	373					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)		GGCGCCATCCGCACTGGAGAG	0.592																																						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.(1117-1119)gCg>gTg		transmembrane protein 132D							76	72	73					12																	129822360		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129822360G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1118C>T	12.37:g.129822360G>A	ENSP00000408581:p.Ala373Val		Somatic					p.A373V	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)	4	1444	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	373					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1118C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	7.293	0.611470	0.14066	.	.	ENSG00000151952	ENST00000422113	T	0.13657	2.57	5.15	-9.46	0.00597	.	1.098670	0.06965	N	0.817048	T	0.05547	0.0146	N	0.05230	-0.09	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44251	-0.9340	9	.	.	.	-7.6336	13.872	0.63624	0.2209:0.0943:0.6848:0.0	.	373	Q14C87	T132D_HUMAN	V	373	ENSP00000408581:A373V	.	A	-	2	0	TMEM132D	128388313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.065000	0.11617	-2.151000	0.00795	-0.889000	0.02933	GCG		0.592	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		89	13	0	0	0	1	0	89	13					A	129822360	G	A	129822360	3	1	47	1	0	0	0	0	1	0	0	0	16062	1087	38	1	2205	1	TMEM132D	12	129822360	Missense_Mutation	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08	9161573	129822360	4029535	35	4438										
FREM2	341640	broad.mit.edu	37	chr13	39262004	39262004	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	tggtactggaggtggaggtgGtcttcacccagctggaggtt	17	7	2	0			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr13:39262004G>T	ENST00000280481.7	+	1	739	c.523G>T	c.(523-525)Gtc>Ttc	p.V175F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	175					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)		GGTGGAGGTGGTCTTCACCCA	0.677																																						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.(523-525)Gtc>Ttc		FRAS1 related extracellular matrix protein 2							73	74	73					13																	39262004		2197	4298	6495	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262004G>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.523G>T	13.37:g.39262004G>T	ENSP00000280481:p.Val175Phe		Somatic					p.V175F	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	739	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	175					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.523G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874844	0.51695	.	.	ENSG00000150893	ENST00000280481	T	0.21191	2.02	4.93	2.06	0.26882	.	0.281827	0.34338	N	0.004043	T	0.21145	0.0509	L	0.53249	1.67	0.34721	D	0.728729	B	0.29590	0.25	B	0.35182	0.197	T	0.26467	-1.0102	10	0.40728	T	0.16	.	9.3567	0.38171	0.0899:0.5417:0.3684:0.0	.	175	Q5SZK8	FREM2_HUMAN	F	175	ENSP00000280481:V175F	ENSP00000280481:V175F	V	+	1	0	FREM2	38160004	0.919000	0.31177	0.999000	0.59377	0.995000	0.86356	0.312000	0.19397	1.255000	0.44051	0.655000	0.94253	GTC		0.677	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		5	6	1	0	0.000602214	1	0.000637227	5	6					T	39262004	G	T	39262004	3	4	47	1	0	0	0	0	1	0	0	0	6053	1261	44	5	525	5	FREM2	13	39262004	Missense_Mutation	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08		39262004	75907874	36	4439										
GALC	2581	broad.mit.edu	37	chr14	88411975	88411975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	gtctctggttgagaacttggCgtagcgtgaagtgatgctcg	15	7	1	3	rs200378205	byFrequency	TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr14:88411975C>T	ENST00000261304.2	-	14	1698	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	GALC_ENST00000544807.2_Missense_Mutation_p.R475H|GALC_ENST00000393568.4_Missense_Mutation_p.R508H|GALC_ENST00000393569.2_Missense_Mutation_p.R505H	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	531			R -> C (in GLD).|R -> H (in GLD; infantile; significant reduction of activity). {ECO:0000269|PubMed:10234611}.		carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGAACTTGGCGTAGCGTGAA	0.408													C|||	2	0.000399361	0	0	5008	,	,		15418	0.002		0	False		,,,				2504	0					ENST00000261304.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	GRCh37	CM990620	GALC	M		c.(1591-1593)cGc>cAc		galactosylceramidase							123	119	120					14																	88411975		1885	4098	5983	SO:0001583	missense	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88411975C>T	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"Krabbe disease"	606890	"galactosylceramidase (Krabbe disease)"				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1592G>A	14.37:g.88411975C>T	ENSP00000261304:p.Arg531His		Somatic				GALC_ENST00000393568.4_Missense_Mutation_p.R508H|GALC_ENST00000393569.2_Missense_Mutation_p.R505H|GALC_ENST00000544807.2_Missense_Mutation_p.R475H	p.R531H	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	WXS	Illumina GAIIx	Phase_I	P54803	GALC_HUMAN			14	1698	-			531		R -> C (in GLD).|R -> H (in GLD; infantile; significant reduction of activity).			B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	c.1592G>A	CCDS9878.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.14	3.314547	0.60524	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	5.5	4.61	0.57282	.	0.048176	0.85682	D	0.000000	D	0.97745	0.9260	M	0.91140	3.18	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.999	D	0.98792	1.0736	10	0.87932	D	0	-13.106	15.9398	0.79745	0.1363:0.8637:0.0:0.0	.	475;508;505;531	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	H	531;475;505;320;508	ENSP00000261304:R531H;ENSP00000437513:R475H;ENSP00000377199:R505H;ENSP00000377198:R508H	ENSP00000261304:R531H	R	-	2	0	GALC	87481728	1.000000	0.71417	0.840000	0.33206	0.012000	0.07955	7.637000	0.83313	1.441000	0.47550	0.585000	0.79938	CGC		0.408	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			24	28	0	0	0	1	0	24	28					T	88411975	C	T	88411975	3	4	47	1	0	0	0	0	1	0	0	0	6209	768	27	1	481	1	GALC	14	88411975	Missense_Mutation	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08		88411975	18937565	37	4440										
TUBGCP5	114791	broad.mit.edu	37	chr15	22848945	22848945	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	gtttcgactccaggagttcaTtgatgaagtcatgggacaca	11	8	2	2			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr15:22848945T>C	ENST00000283645.4	+	10	1122	c.992T>C	c.(991-993)aTt>aCt	p.I331T	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.I331T|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	331					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CAGGAGTTCATTGATGAAGTC	0.458																																						ENST00000283645.4																			0				breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(991-993)aTt>aCt		tubulin, gamma complex associated protein 5							155	139	145					15																	22848945		2203	4300	6503	SO:0001583	missense	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22848945T>C	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.992T>C	15.37:g.22848945T>C	ENSP00000283645:p.Ile331Thr		Somatic				TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.I331T	p.I331T	NM_052903.4	NP_443135.3	WXS	Illumina GAIIx	Phase_I	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	10	1122	+		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)	331					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.992T>C	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	.	17.36	3.370971	0.61624	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.08546	3.08;3.08	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.25975	0.0633	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00377	-1.1778	10	0.52906	T	0.07	-22.6322	15.7228	0.77728	0.0:0.0:0.0:1.0	.	331;331	Q96RT8;E9PB12	GCP5_HUMAN;.	T	331	ENSP00000283645:I331T;ENSP00000409217:I331T	ENSP00000283645:I331T	I	+	2	0	TUBGCP5	20400386	1.000000	0.71417	0.957000	0.39632	0.534000	0.34807	7.520000	0.81821	2.179000	0.69175	0.533000	0.62120	ATT		0.458	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		20	21	0	0	0	1	0	20	21					C	22848945	T	C	22848945	3	2	47	1	0	0	0	0	1	0	0	0	16784	1493	52	4	1030	4	TUBGCP5	15	22848945	Missense_Mutation	SNP	T	TCGA-ND-A4WA-01A-12D-A28R-08		22848945	79682447	38	4441										
KIAA0430	9665	broad.mit.edu	37	chr16	15729877	15729877	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	cattctggagtgaagatgcaGactggaaagcaaaccctgac	11	9	1	4			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr16:15729877G>A	ENST00000396368.3	-	3	673	c.467C>T	c.(466-468)tCt>tTt	p.S156F	KIAA0430_ENST00000548025.1_Missense_Mutation_p.S156F|KIAA0430_ENST00000540441.2_Missense_Mutation_p.S156F|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000602337.1_Missense_Mutation_p.S156F|KIAA0430_ENST00000551742.1_Missense_Mutation_p.S156F	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	156					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						TGAAGATGCAGACTGGAAAGC	0.512																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(466-468)tCt>tTt		KIAA0430							186	186	186					16																	15729877		2085	4221	6306	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729877G>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.467C>T	16.37:g.15729877G>A	ENSP00000379654:p.Ser156Phe		Somatic				KIAA0430_ENST00000548025.1_Missense_Mutation_p.S156F|KIAA0430_ENST00000602337.1_Missense_Mutation_p.S156F|KIAA0430_ENST00000540441.2_Missense_Mutation_p.S156F|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_Missense_Mutation_p.S156F	p.S156F	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	673	-			155					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.467C>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343553	0.82022	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000548025;ENST00000551742;ENST00000551298;ENST00000549219	.	.	.	5.55	5.55	0.83447	.	0.093331	0.47852	D	0.000203	T	0.64472	0.2601	N	0.24115	0.695	0.80722	D	1	D;D;D;D;P	0.67145	0.996;0.958;0.958;0.958;0.93	D;P;P;P;P	0.63192	0.912;0.735;0.735;0.735;0.548	T	0.68716	-0.5335	9	0.87932	D	0	.	19.5144	0.95157	0.0:0.0:1.0:0.0	.	155;155;156;155;155	Q9Y4F3-6;Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;.;LKAP_HUMAN	F	156;156;155;156;156;156;156	.	ENSP00000315718:S155F	S	-	2	0	KIAA0430	15637378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.694000	0.84235	2.618000	0.88619	0.655000	0.94253	TCT		0.512	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		13	155	0	0	0	1	0	13	155					A	15729877	G	A	15729877	3	1	47	1	0	0	0	0	1	0	0	0	8186	942	33	3	4864	3	KIAA0430	16	15729877	Missense_Mutation	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08		15729877	74624876	39	4442										
UMOD	7369	broad.mit.edu	37	chr16	20352470	20352470	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	cattgctactgggtgtggcaTagcagttggtcatgagcagt	14	7	1	1			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr16:20352470T>G	ENST00000570689.1	-	7	1666	c.1520A>C	c.(1519-1521)tAt>tCt	p.Y507S	UMOD_ENST00000396134.2_Missense_Mutation_p.Y540S|UMOD_ENST00000302509.4_Missense_Mutation_p.Y507S|UMOD_ENST00000396142.2_Missense_Mutation_p.Y507S|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396138.4_Missense_Mutation_p.Y556S|UMOD_ENST00000424589.1_Missense_Mutation_p.Y540S			P07911	UROM_HUMAN	uromodulin	507	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGGTGTGGCATAGCAGTTGGT	0.542																																						ENST00000396134.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1618-1620)tAt>tCt		uromodulin							116	93	101					16																	20352470		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20352470T>G	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1520A>C	16.37:g.20352470T>G	ENSP00000460548:p.Tyr507Ser		Somatic				UMOD_ENST00000302509.4_Missense_Mutation_p.Y507S|UMOD_ENST00000396142.2_Missense_Mutation_p.Y507S|UMOD_ENST00000570689.1_Missense_Mutation_p.Y507S|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396138.4_Missense_Mutation_p.Y556S|UMOD_ENST00000424589.1_Missense_Mutation_p.Y540S	p.Y540S	NM_001278614.1	NP_001265543.1	WXS	Illumina GAIIx	Phase_I	P07911	UROM_HUMAN			8	1742	-			507			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1619A>C	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.470063	0.63625	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.34	4.23	0.50019	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.155783	0.30419	N	0.009672	D	0.91546	0.7330	M	0.90650	3.135	0.38922	D	0.957765	D;D	0.89917	1.0;1.0	D;D	0.91635	0.977;0.999	D	0.92358	0.5895	10	0.87932	D	0	-15.4511	10.1115	0.42565	0.1501:0.0:0.0:0.8499	.	540;507	E9PEA4;P07911	.;UROM_HUMAN	S	507;540;540;507;485;507	ENSP00000379438:Y540S;ENSP00000416346:Y540S;ENSP00000306279:Y507S;ENSP00000379446:Y507S	ENSP00000306279:Y507S	Y	-	2	0	UMOD	20259971	0.344000	0.24827	0.988000	0.46212	0.977000	0.68977	0.461000	0.21940	0.939000	0.37446	0.533000	0.62120	TAT		0.542	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			16	25	0	0	0	1	0	16	25					G	20352470	T	G	20352470	3	3	47	1	0	0	0	0	1	0	0	0	16994	1406	49	4	422	4	UMOD	16	20352470	Missense_Mutation	SNP	T	TCGA-ND-A4WA-01A-12D-A28R-08	4622593	20352470	70002283	40	4443										
TUFM	25970	broad.mit.edu	37	chr16	28855116	28855116	+	5'Flank	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	agtcagggagaacatgacagGcatgaagtgggacacaaagg	15	6	1	3			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr16:28855116G>T	ENST00000322610.8	+	0	0				TUFM_ENST00000313511.3_Missense_Mutation_p.P379T|MIR4721_ENST00000577590.1_RNA			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						AACATGACAGGCATGAAGTGG	0.577																																						ENST00000313511.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(1135-1137)Cct>Act		Tu translation elongation factor, mitochondrial							71	59	63					16																	28855116		2197	4300	6497	SO:0001631	upstream_gene_variant	7284					mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr16:28855116G>T	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28855116G>T	Exception_encountered		Somatic					p.P379T	NM_003321.4	NP_003312.3	WXS	Illumina GAIIx	Phase_I	P49411	EFTU_HUMAN			9	1273	-			376					A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.1135C>A	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721818	0.89298	.	.	ENSG00000178952	ENST00000313511	T	0.74209	-0.82	6.07	6.07	0.98685	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.056072	0.64402	D	0.000001	D	0.90092	0.6905	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91391	0.5135	10	0.87932	D	0	-3.2328	19.4154	0.94694	0.0:0.0:1.0:0.0	.	376	P49411	EFTU_HUMAN	T	379	ENSP00000322439:P379T	ENSP00000322439:P379T	P	-	1	0	TUFM	28762617	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.114000	0.89570	2.884000	0.98904	0.655000	0.94253	CCT		0.577	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		14	19	1	0	9.31168e-06	1	1.00877e-05	14	19					T	28855116	G	T	28855116	1	4	47	0	1	0	0	0	0	0	0	0	16786	1203	42	5		5	TUFM	16	28855116	5'Flank	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08	8502646	28855116	61499637	41	4444										
CA10	56934	broad.mit.edu	37	chr17	50008357	50008357	+	Frame_Shift_Del	DEL	C	C	-													0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	tatggtggcttaccttcctgCcccccgtgttgatgcgaaga							TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr17:50008357delC	ENST00000285273.4	-	4	1383	c.272delG	c.(271-273)ggcfs	p.G91fs	CA10_ENST00000451037.2_Frame_Shift_Del_p.G91fs|CA10_ENST00000570565.1_Frame_Shift_Del_p.G16fs|CA10_ENST00000340813.6_Frame_Shift_Del_p.G97fs|CA10_ENST00000442502.2_Frame_Shift_Del_p.G91fs	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development (GO:0007420)			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TACCTTCCTGCCCCCCGTGTT	0.493																																						ENST00000451037.2																			1	Substitution - Missense(1)	p.G91V(1)	lung(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(271-273)gcfs		carbonic anhydrase X							264	257	259					17																	50008357		2203	4300	6503	SO:0001589	frameshift_variant	56934				brain development			g.chr17:50008357delC	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"Carbonic anhydrases"	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.272delG	17.37:g.50008357delC	ENSP00000285273:p.Gly91fs		Somatic				CA10_ENST00000285273.4_Frame_Shift_Del_p.G91fs|CA10_ENST00000340813.6_Frame_Shift_Del_p.G97fs|CA10_ENST00000442502.2_Frame_Shift_Del_p.G91fs|CA10_ENST00000570565.1_Frame_Shift_Del_p.G16fs	p.G91fs	NM_020178.4	NP_064563.1	WXS	Illumina GAIIx	Phase_I	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		3	1212	-			91					B2R7J0|B4DGL6	Frame_Shift_Del	DEL	ENST00000285273.4	37	c.272delG	CCDS32684.1																																																																																				0.493	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		8	406						8	406	---	---	---	---	-	50008357	C	-	50008357	7	5	47	1	0	1	0	1	0	0	0	0	2513	739	26	0	742	0	CA10	17	50008357	Frame_Shift_Del	DEL	C	TCGA-ND-A4WA-01A-12D-A28R-08		50008357	31186853	42	4445										
MRC2	9902	broad.mit.edu	37	chr17	60758178	60758178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	caggccgacgggaatggctgCgcttccaggaggccgagtac	16	12	0	0			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr17:60758178C>T	ENST00000303375.5	+	17	2893	c.2491C>T	c.(2491-2493)Cgc>Tgc	p.R831C	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	831					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						GGAATGGCTGCGCTTCCAGGA	0.726																																						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.(2491-2493)Cgc>Tgc		mannose receptor, C type 2							18	18	18					17																	60758178		2201	4296	6497	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60758178C>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.2491C>T	17.37:g.60758178C>T	ENSP00000307513:p.Arg831Cys		Somatic					p.R831C	NM_006039.4	NP_006030.2	WXS	Illumina GAIIx	Phase_I	Q9UBG0	MRC2_HUMAN			17	2893	+			831					A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.2491C>T	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.361967	0.41801	.	.	ENSG00000011028	ENST00000303375	T	0.16897	2.31	5.09	4.05	0.47172	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.642690	0.16067	N	0.231218	T	0.14614	0.0353	L	0.44542	1.39	0.28711	N	0.903524	P	0.47762	0.9	B	0.39299	0.296	T	0.06285	-1.0835	10	0.38643	T	0.18	-18.692	11.0303	0.47769	0.3784:0.6216:0.0:0.0	.	831	Q9UBG0	MRC2_HUMAN	C	831	ENSP00000307513:R831C	ENSP00000307513:R831C	R	+	1	0	MRC2	58111910	0.954000	0.32549	1.000000	0.80357	0.777000	0.43975	2.012000	0.40932	2.354000	0.79902	0.561000	0.74099	CGC		0.726	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			13	39	0	0	0	1	0	13	39					T	60758178	C	T	60758178	3	4	47	1	0	0	0	0	1	0	0	0	9767	768	27	1	2557	1	MRC2	17	60758178	Missense_Mutation	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08	10749821	60758178	20437032	43	4446										
TK1	7083	broad.mit.edu	37	chr17	76171208	76171209	+	Frame_Shift_Del	DEL	CG	CG	-													0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	caccgccgtcagcttcaccaCgctctcggccagcggcacca							TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr17:76171208_76171209delCG	ENST00000301634.7	-	6	673_674	c.435_436delCG	c.(433-438)agcgtgfs	p.V147fs	TK1_ENST00000588734.1_Frame_Shift_Del_p.V147fs|TK1_ENST00000405273.1_Frame_Shift_Del_p.V147fs|TK1_ENST00000590430.1_3'UTR|TK1_ENST00000590862.1_Frame_Shift_Del_p.V147fs	NM_003258.4	NP_003249.3	P04183	KITH_HUMAN	thymidine kinase 1, soluble	147					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|digestive tract development (GO:0048565)|DNA replication (GO:0006260)|fetal process involved in parturition (GO:0060138)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to copper ion (GO:0046688)|response to cortisol (GO:0051414)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|skeletal muscle cell proliferation (GO:0014856)|small molecule metabolic process (GO:0044281)|thymidine metabolic process (GO:0046104)	cytosol (GO:0005829)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|nucleoside kinase activity (GO:0019206)|thymidine kinase activity (GO:0004797)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		Trifluridine(DB00432)|Zidovudine(DB00495)	AGCTTCACCACGCTCTCGGCCA	0.614																																						ENST00000588734.1																			0				endometrium(1)|large_intestine(1)|urinary_tract(2)	4						c.(433-438)agtgfs		thymidine kinase 1, soluble																																				SO:0001589	frameshift_variant	7083				DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding	g.chr17:76171208_76171209delCG		CCDS11754.1	17q23.2-q25.3	2012-10-02			ENSG00000167900	ENSG00000167900	2.7.1.21		11830	protein-coding gene	gene with protein product		188300					Standard	NM_003258		Approved		uc002juw.2	P04183	OTTHUMG00000150674	ENST00000301634.7:c.435_436delCG	17.37:g.76171208_76171209delCG	ENSP00000301634:p.Val147fs		Somatic				TK1_ENST00000590430.1_3'UTR|TK1_ENST00000405273.1_Frame_Shift_Del_p.SV145fs|TK1_ENST00000590862.1_Frame_Shift_Del_p.SV145fs|TK1_ENST00000301634.7_Frame_Shift_Del_p.SV145fs	p.SV145fs			WXS	Illumina GAIIx	Phase_I	P04183	KITH_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)		6	673_674	-			145					B2RC58|Q969V0|Q9UMG9	Frame_Shift_Del	DEL	ENST00000301634.7	37	c.435_436delCG	CCDS11754.1																																																																																				0.614	TK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319577.1	NM_003258		21	80						21	80	---	---	---	---	-	76171209	CG	-	76171208	7	5	47	1	0	1	0	1	0	0	0	0	15947	536	19	0	276	0	TK1	17	76171208	Frame_Shift_Del	DEL	CG	TCGA-ND-A4WA-01A-12D-A28R-08	15413030	76171208	5024002	44	4447										
C1QTNF1	114897	broad.mit.edu	37	chr17	77042776	77042776	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	tcaacatcactatcttgaaaGgtcagatggctgcaaagaca	8	9	4	3			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr17:77042776G>A	ENST00000339142.2	+	4	850	c.295G>A	c.(295-297)Ggg>Agg	p.G99R	C1QTNF1_ENST00000311661.4_Splice_Site_p.G17R|C1QTNF1_ENST00000354124.3_Splice_Site_p.G109R|C1QTNF1_ENST00000583904.1_Splice_Site_p.G99R|C1QTNF1_ENST00000581774.1_Splice_Site_p.G99R|C1QTNF1_ENST00000580454.1_Splice_Site_p.G99R|C1QTNF1_ENST00000579760.1_Splice_Site_p.G99R|C1QTNF1_ENST00000578229.1_Splice_Site_p.G17R|C1QTNF1_ENST00000580474.1_Splice_Site_p.G99R|C1QTNF1_ENST00000392445.2_Splice_Site_p.G99R	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	99	Collagen-like.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TATCTTGAAAGGTCAGATGGC	0.627											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339142.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14						c.e4+1		C1q and tumor necrosis factor related protein 1							68	68	68					17																	77042776		2203	4300	6503	SO:0001630	splice_region_variant	114897					collagen		g.chr17:77042776G>A	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"G protein coupled receptor interacting protein"	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.295+1G>A	17.37:g.77042776G>A			Somatic	OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	C1QTNF1_ENST00000583904.1_Splice_Site_p.G99_splice|C1QTNF1_ENST00000581774.1_Splice_Site_p.G99_splice|C1QTNF1_ENST00000580454.1_Splice_Site_p.G99_splice|C1QTNF1_ENST00000580474.1_Splice_Site_p.G99_splice|C1QTNF1_ENST00000354124.3_Splice_Site_p.G109_splice|C1QTNF1_ENST00000578229.1_Splice_Site_p.G17_splice|C1QTNF1_ENST00000392445.2_Splice_Site_p.G99_splice|C1QTNF1_ENST00000311661.4_Splice_Site_p.G17_splice|C1QTNF1_ENST00000579760.1_Splice_Site_p.G99_splice	p.G99_splice	NM_198593.3	NP_940995.1	WXS	Illumina GAIIx	Phase_I	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		4	850	+			99			Collagen-like.		Q6ZMH6|Q96NF2|Q9GZR4	Splice_Site	SNP	ENST00000339142.2	37	c.295_splice	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	g	25.4	4.629964	0.87660	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	D;D;D	0.99353	-5.77;-5.77;-5.77	4.21	4.21	0.49690	.	0.093306	0.42682	D	0.000673	D	0.99576	0.9847	H	0.94734	3.575	0.53688	D	0.999971	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97739	1.0207	10	0.87932	D	0	.	17.1023	0.86653	0.0:0.0:1.0:0.0	.	109;109;99	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	R	99;17;109;99;109	ENSP00000340864:G99R;ENSP00000311265:G17R;ENSP00000343230:G109R	ENSP00000311265:G17R	G	+	1	0	C1QTNF1	74554371	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.806000	0.86020	2.312000	0.78011	0.556000	0.70494	GGG		0.627	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968	Missense_Mutation	60	110	0	0	0	1	0	60	110					A	77042776	G	A	77042776	5	1	47	1	0	0	0	0	0	0	1	0	1964	1014	35	3	301	3	C1QTNF1	17	77042776	Splice_Site	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08	871568	77042776	4152434	45	4448										
RNMT	8731	broad.mit.edu	37	chr18	13741541	13741541	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	gacaaatttcgtgacccacaAatgtgttttgacatctgcag	8	9	1	2			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr18:13741541A>G	ENST00000383314.2	+	7	1065	c.825A>G	c.(823-825)caA>caG	p.Q275Q	RNMT_ENST00000592764.1_Silent_p.Q275Q|RNMT_ENST00000589866.1_Silent_p.Q275Q|RNMT_ENST00000262173.3_Silent_p.Q275Q|RNMT_ENST00000535051.1_Silent_p.Q33Q|RNMT_ENST00000543302.2_Silent_p.Q275Q			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	275	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						GTGACCCACAAATGTGTTTTG	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.(823-825)caA>caG		RNA (guanine-7-) methyltransferase							131	122	125					18																	13741541		2203	4300	6503	SO:0001819	synonymous_variant	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13741541A>G	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.825A>G	18.37:g.13741541A>G			Somatic				RNMT_ENST00000589866.1_Silent_p.Q275Q|RNMT_ENST00000543302.2_Silent_p.Q275Q|RNMT_ENST00000535051.1_Silent_p.Q33Q|RNMT_ENST00000592764.1_Silent_p.Q275Q|RNMT_ENST00000262173.3_Silent_p.Q275Q	p.Q275Q			WXS	Illumina GAIIx	Phase_I	O43148	MCES_HUMAN			7	1065	+			275					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Silent	SNP	ENST00000383314.2	37	c.825A>G	CCDS11867.1																																																																																				0.348	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		11	31	0	0	0	1	0	11	31					G	13741541	A	G	13741541	2	3	47	1	0	0	0	0	0	0	0	1	13521	11	1	4		4	RNMT	18	13741541	Silent	SNP	A	TCGA-ND-A4WA-01A-12D-A28R-08		13741541	64335707	46	4449										
C3	718	broad.mit.edu	37	chr19	6678426	6678426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	gccatgatgtactcgtcaaaGtcattggacagctgaacctt	9	10	2	2			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:6678426G>A	ENST00000245907.6	-	39	4763	c.4671C>T	c.(4669-4671)gaC>gaT	p.D1557D	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1557	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				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)	ACTCGTCAAAGTCATTGGACA	0.582																																						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.(4669-4671)gaC>gaT		complement component 3							156	105	122					19																	6678426		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6678426G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4671C>T	19.37:g.6678426G>A			Somatic				C3_ENST00000599668.1_5'UTR	p.D1557D	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)	39	4763	-			1557			NTR.		A7E236	Silent	SNP	ENST00000245907.6	37	c.4671C>T	CCDS32883.1																																																																																				0.582	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		14	12	0	0	0	1	0	14	12					A	6678426	G	A	6678426	2	1	47	1	0	0	0	0	0	0	0	1	2206	1020	36	3		3	C3	19	6678426	Silent	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08		6678426	52450557	47	4450										
AKAP8L	26993	broad.mit.edu	37	chr19	15512057	15512057	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	cgggagccgcccgggaaggcGcccccacctcgcatgccctg	14	19	0	0	rs371825174		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:15512057G>A	ENST00000397410.5	-	5	850	c.720C>T	c.(718-720)ggC>ggT	p.G240G	AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Silent_p.G179G	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	240						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						CCGGGAAGGCGCCCCCACCTC	0.642																																						ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(718-720)ggC>ggT		A kinase (PRKA) anchor protein 8-like		G		1,3901		0,1,1950	95	110	105		720	-1.2	0.9	19		105	0,8280		0,0,4140	no	coding-synonymous	AKAP8L	NM_014371.2		0,1,6090	AA,AG,GG		0.0,0.0256,0.0082		240/647	15512057	1,12181	1951	4140	6091	SO:0001819	synonymous_variant	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15512057G>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.720C>T	19.37:g.15512057G>A			Somatic				AKAP8L_ENST00000595136.1_5'UTR|AKAP8L_ENST00000595465.1_Silent_p.G179G	p.G240G	NM_014371.2	NP_055186.2	WXS	Illumina GAIIx	Phase_I	Q9ULX6	AKP8L_HUMAN			5	784	-			240					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Silent	SNP	ENST00000397410.5	37	c.720C>T	CCDS46005.1																																																																																				0.642	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		60	79	0	0	0	1	0	60	79					A	15512057	G	A	15512057	2	1	47	1	0	0	0	0	0	0	0	1	458	1074	38	1		1	AKAP8L	19	15512057	Silent	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08	8833631	15512057	43616926	48	4451										
ZNF585B	92285	broad.mit.edu	37	chr19	37677126	37677126	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	tcccacagtgaccacatttaTaaggtttctctccagtatga	6	11	1	2			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:37677126T>A	ENST00000532828.2	-	5	1564	c.1313A>T	c.(1312-1314)tAt>tTt	p.Y438F	ZNF585B_ENST00000531805.1_Missense_Mutation_p.Y383F|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.Y26F	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	438					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)			ACCACATTTATAAGGTTTCTC	0.378																																					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.(1312-1314)tAt>tTt		zinc finger protein 585B							103	105	104					19																	37677126		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677126T>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.1313A>T	19.37:g.37677126T>A	ENSP00000433773:p.Tyr438Phe		Somatic				ZNF585B_ENST00000531805.1_Missense_Mutation_p.Y383F|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.Y26F|CTC-454I21.3_ENST00000585860.2_Intron	p.Y438F	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	1564	-			438					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.1313A>T	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.660503	0.29515	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.18338	2.22;2.22;2.22	2.35	1.21	0.21127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34088	N	0.004273	T	0.15262	0.0368	N	0.05608	-0.01	0.20403	N	0.999907	B;P	0.52061	0.002;0.95	B;D	0.65573	0.018;0.936	T	0.09100	-1.0690	10	0.38643	T	0.18	.	5.3257	0.15905	0.254:0.0:0.0:0.746	.	383;438	E9PQH3;Q52M93	.;Z585B_HUMAN	F	383;438;26	ENSP00000436774:Y383F;ENSP00000433773:Y438F;ENSP00000442139:Y26F	ENSP00000442139:Y26F	Y	-	2	0	ZNF585B	42368966	0.000000	0.05858	0.686000	0.30086	0.821000	0.46438	0.128000	0.15810	0.105000	0.17753	0.254000	0.18369	TAT		0.378	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		15	169	0	0	0	1	0	15	169					A	37677126	T	A	37677126	3	1	47	1	0	0	0	0	1	0	0	0	18033	1406	49	4	1000	4	ZNF585B	19	37677126	Missense_Mutation	SNP	T	TCGA-ND-A4WA-01A-12D-A28R-08	22165069	37677126	21451857	49	4452										
ARHGAP35	2909	broad.mit.edu	37	chr19	47424918	47424918	+	Frame_Shift_Del	DEL	T	T	-													0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	tcgagccatcttacagcctgTttcgagaagacacatcactg							TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:47424918delT	ENST00000404338.3	+	1	2986	c.2986delT	c.(2986-2988)tttfs	p.F996fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	996					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TTACAGCCTGTTTCGAGAAGA	0.483																																						ENST00000404338.3																			0											c.(2986-2988)ttfs		Rho GTPase activating protein 35							62	62	62					19																	47424918		1939	4147	6086	SO:0001589	frameshift_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424918delT	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2986delT	19.37:g.47424918delT	ENSP00000385720:p.Phe996fs		Somatic					p.F996fs	NM_004491.4	NP_004482.4	WXS	Illumina GAIIx	Phase_I	Q9NRY4	RHG35_HUMAN			1	2986	+			996					A7E2A4|Q14452|Q9C0E1	Frame_Shift_Del	DEL	ENST00000404338.3	37	c.2986delT	CCDS46127.1																																																																																				0.483	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		16	41						16	41	---	---	---	---	-	47424918	T	-	47424918	7	5	47	1	0	1	0	1	0	0	0	0	6804	1725	60	0	2988	0	ARHGAP35	19	47424918	Frame_Shift_Del	DEL	T	TCGA-ND-A4WA-01A-12D-A28R-08	9747792	47424918	11704065	50	4453										
ZNF473	25888	broad.mit.edu	37	chr19	50549834	50549834	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	acgaatgcgggaaaacgttcCgtcagagctcatgcctttct	10	11	3	1			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:50549834C>T	ENST00000595661.1	+	6	2629	c.2134C>T	c.(2134-2136)Cgt>Tgt	p.R712C	ZNF473_ENST00000270617.3_Missense_Mutation_p.R712C|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.R700C|ZNF473_ENST00000391821.2_Missense_Mutation_p.R712C|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	712					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)		GAAAACGTTCCGTCAGAGCTC	0.502																																						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.(2134-2136)Cgt>Tgt		zinc finger protein 473							97	101	99					19																	50549834		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.chr19:50549834C>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.2134C>T	19.37:g.50549834C>T	ENSP00000472808:p.Arg712Cys		Somatic				ZNF473_ENST00000445728.3_Missense_Mutation_p.R700C|ZNF473_ENST00000270617.3_Missense_Mutation_p.R712C|ZNF473_ENST00000391821.2_Missense_Mutation_p.R712C|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA	p.R712C			WXS	Illumina GAIIx	Phase_I	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	2629	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	712					A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.2134C>T	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484780	0.26598	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.01043	5.41;5.41;5.41	4.25	-0.788	0.10939	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.231740	0.06082	N	0.661989	T	0.03390	0.0098	L	0.53617	1.68	0.09310	N	1	D	0.76494	0.999	P	0.57679	0.825	T	0.47005	-0.9150	10	0.51188	T	0.08	0.418	8.3972	0.32564	0.4343:0.4247:0.141:0.0	.	712	Q8WTR7	ZN473_HUMAN	C	712;712;700	ENSP00000270617:R712C;ENSP00000375697:R712C;ENSP00000388961:R700C	ENSP00000270617:R712C	R	+	1	0	ZNF473	55241646	0.000000	0.05858	0.001000	0.08648	0.338000	0.28826	-0.429000	0.06982	-0.005000	0.14395	-0.241000	0.12123	CGT		0.502	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		28	53	0	0	0	1	0	28	53					T	50549834	C	T	50549834	3	4	47	1	0	0	0	0	1	0	0	0	17946	652	23	1	2148	1	ZNF473	19	50549834	Missense_Mutation	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08	3124916	50549834	8579149	51	4454										
ZNF615	284370	broad.mit.edu	37	chr19	52496399	52496399	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	agtctttcctgtgtgaaatcGctgatgttgtatgaggcatg	12	6	1	3			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:52496399G>A	ENST00000602063.1	-	6	2279	c.1930C>T	c.(1930-1932)Cga>Tga	p.R644*	ZNF615_ENST00000594083.1_Nonsense_Mutation_p.R655*|ZNF615_ENST00000598071.1_Nonsense_Mutation_p.R655*|ZNF615_ENST00000391795.3_Nonsense_Mutation_p.R649*|ZNF615_ENST00000376716.5_Nonsense_Mutation_p.R644*			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	644					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)		GTGTGAAATCGCTGATGTTGT	0.383																																						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.(1930-1932)Cga>Tga		zinc finger protein 615							164	163	163					19																	52496399		2203	4300	6503	SO:0001587	stop_gained	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496399G>A	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.1930C>T	19.37:g.52496399G>A	ENSP00000473089:p.Arg644*		Somatic				ZNF615_ENST00000376716.5_Nonsense_Mutation_p.R644*|ZNF615_ENST00000594083.1_Nonsense_Mutation_p.R655*|ZNF615_ENST00000391795.3_Nonsense_Mutation_p.R649*|ZNF615_ENST00000598071.1_Nonsense_Mutation_p.R655*	p.R644*			WXS	Illumina GAIIx	Phase_I	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2279	-		all_neural(266;0.117)	644					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Nonsense_Mutation	SNP	ENST00000602063.1	37	c.1930C>T	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320580	0.95682	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	.	.	.	3.04	-0.779	0.10973	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3564	0.43967	0.0:0.0:0.5213:0.4787	.	.	.	.	X	644;654;649;598	.	ENSP00000347019:R654X	R	-	1	2	ZNF615	57188211	0.000000	0.05858	0.451000	0.26982	0.940000	0.58332	-0.264000	0.08658	-0.372000	0.07992	-1.028000	0.02416	CGA		0.383	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		89	44	0	0	0	1	0	89	44					A	52496399	G	A	52496399	4	1	47	1	0	0	0	0	0	1	0	0	18055	1095	38	1	269	1	ZNF615	19	52496399	Nonsense_Mutation	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08	1946565	52496399	6632584	52	4455										
KIR2DL1	3811	broad.mit.edu	37	chr19	55284834	55284834	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	cacccaggtcgcctggtgaaAtcagaagagacagtcatcct	10	12	2	3			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:55284834A>G	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000291633.7_Silent_p.K40K|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000336077.6_Silent_p.K40K|KIR2DL3_ENST00000434419.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GCCTGGTGAAATCAGAAGAGA	0.493																																						ENST00000336077.6																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(118-120)aaA>aaG		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1							99	85	90					19																	55284834		1995	3787	5782	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55284834A>G	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-44155A>G	19.37:g.55284834A>G			Somatic				KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Silent_p.K40K|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	p.K40K	NM_014218.2	NP_055033.2	WXS	Illumina GAIIx	Phase_I	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	160	+			40					O43473|Q14946|Q16541	Silent	SNP	ENST00000538269.1	37	c.120A>G																																																																																					0.493	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		6	222	0	0	0	1	0	6	222					G	55284834	A	G	55284834	1	3	47	0	1	0	0	0	0	0	0	0	8325	98	4	4		4	KIR2DL1	19	55284834	Intron	SNP	A	TCGA-ND-A4WA-01A-12D-A28R-08	2788435	55284834	3844149	53	4456										
RRP1	8568	broad.mit.edu	37	chr21	45217427	45217427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	agctgaccaaagtgggcgccGaggaggtgaggctgggctcc	18	10	0	2			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr21:45217427G>A	ENST00000497547.1	+	6	664	c.547G>A	c.(547-549)Gag>Aag	p.E183K	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		AGTGGGCGCCGAGGAGGTGAG	0.637																																						ENST00000497547.1																			0				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8						c.(547-549)Gag>Aag		ribosomal RNA processing 1							54	60	58					21																	45217427		2066	4184	6250	SO:0001583	missense	8568				rRNA processing	nucleolus|preribosome, small subunit precursor		g.chr21:45217427G>A	U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"DNA segment on chromosome 21 (unique) 2056 expressed sequence", "Nnp1 homolog, nucleolar protein (Drosophila)"	610653	"ribosomal RNA processing 1 homolog (S. cerevisiae)"			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.547G>A	21.37:g.45217427G>A	ENSP00000417464:p.Glu183Lys		Somatic				RRP1_ENST00000471909.1_3'UTR	p.E183K	NM_003683.5	NP_003674.1	WXS	Illumina GAIIx	Phase_I	P56182	RRP1_HUMAN		COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)	6	664	+			183					A6NIB2	Missense_Mutation	SNP	ENST00000497547.1	37	c.547G>A	CCDS42951.1	.	.	.	.	.	.	.	.	.	.	G	5.484	0.274260	0.10403	.	.	ENSG00000160214	ENST00000497547;ENST00000400387	T	0.41400	1.0	4.77	-8.65	0.00870	.	1.468930	0.03833	N	0.269374	T	0.18215	0.0437	N	0.11313	0.125	0.09310	N	1	B;P;B	0.35174	0.054;0.488;0.14	B;B;B	0.23419	0.006;0.046;0.006	T	0.34129	-0.9841	10	0.87932	D	0	.	8.2319	0.31603	0.4238:0.392:0.1842:0.0	.	183;50;183	B4DZM3;Q96J73;P56182	.;.;RRP1_HUMAN	K	183	ENSP00000417464:E183K	ENSP00000383237:E183K	E	+	1	0	RRP1	44041855	0.000000	0.05858	0.001000	0.08648	0.929000	0.56500	-0.070000	0.11523	-1.434000	0.01975	0.561000	0.74099	GAG		0.637	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195680.1	NM_003683		35	34	0	0	0	1	0	35	34					A	45217427	G	A	45217427	3	1	47	1	0	0	0	0	1	0	0	0	13700	1059	37	1	569	1	RRP1	21	45217427	Missense_Mutation	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08		45217427	2912468	54	4457										
PRKX	5613	broad.mit.edu	37	chrX	3631199	3631200	+	Frame_Shift_Del	DEL	GG	GG	-													0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	ggcgacagcgcctcagggctGgggcagagcgcgggcgcccc							TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:3631199_3631200delGG	ENST00000262848.5	-	1	449_450	c.95_96delCC	c.(94-96)cccfs	p.P32fs		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	32					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CCTCAGGGCTGGGGCAGAGCGC	0.757																																						ENST00000262848.5																			0				kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12						c.(94-96)cfs		protein kinase, X-linked																																				SO:0001589	frameshift_variant	5613						ATP binding|cAMP-dependent protein kinase activity	g.chrX:3631199_3631200delGG		CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.95_96delCC	X.37:g.3631201_3631202delGG	ENSP00000262848:p.Pro32fs		Somatic					p.P32fs	NM_005044.4	NP_005035.1	WXS	Illumina GAIIx	Phase_I	P51817	PRKX_HUMAN			1	449_450	-		all_lung(23;0.000396)|Lung NSC(23;0.00123)	32						Frame_Shift_Del	DEL	ENST00000262848.5	37	c.95_96delCC	CCDS14125.1																																																																																				0.757	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044		2	4						2	4	---	---	---	---	-	3631200	GG	-	3631199	7	5	47	1	0	1	0	1	0	0	0	0	12539	1335	47	0	1012	0	PRKX	23	3631199	Frame_Shift_Del	DEL	GG	TCGA-ND-A4WA-01A-12D-A28R-08		3631199	151639361	55	4458										
NHS	4810	broad.mit.edu	37	chrX	17750472	17750472	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	tgcagccagcagcagccgctAcagtgtccgctgccggctgt	13	15	0	0			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:17750472A>G	ENST00000380060.3	+	8	5119	c.4781A>G	c.(4780-4782)tAc>tGc	p.Y1594C	NHS_ENST00000398097.3_Missense_Mutation_p.Y1438C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1615					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)					AGCAGCCGCTACAGTGTCCGC	0.592																																						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.(4780-4782)tAc>tGc		Nance-Horan syndrome (congenital cataracts and dental anomalies)							50	50	50					X																	17750472		2201	4300	6501	SO:0001583	missense	4810					nucleus		g.chrX:17750472A>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.4781A>G	X.37:g.17750472A>G	ENSP00000369400:p.Tyr1594Cys		Somatic				NHS_ENST00000398097.3_Missense_Mutation_p.Y1438C	p.Y1594C	NM_198270.2	NP_938011.1	WXS	Illumina GAIIx	Phase_I	Q6T4R5	NHS_HUMAN			8	5119	+	Hepatocellular(33;0.183)		1594					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.4781A>G	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.565959	0.86439	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.74526	-0.84;-0.85	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.85448	0.5699	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	0.91635	0.999;0.999;0.999;0.999	D	0.87053	0.2148	10	0.87932	D	0	-18.4176	15.4001	0.74834	1.0:0.0:0.0:0.0	.	1615;1436;1438;1594	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	C	1594;1438;1436	ENSP00000369400:Y1594C;ENSP00000381170:Y1438C	ENSP00000369397:Y1436C	Y	+	2	0	NHS	17660393	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.902000	0.92568	2.088000	0.63022	0.486000	0.48141	TAC		0.592	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		64	50	0	0	0	1	0	64	50					G	17750472	A	G	17750472	3	3	47	1	0	0	0	0	1	0	0	0	10420	391	14	4	4916	4	NHS	23	17750472	Missense_Mutation	SNP	A	TCGA-ND-A4WA-01A-12D-A28R-08	14119273	17750472	137520088	56	4459										
FAM47B	170062	broad.mit.edu	37	chrX	34962328	34962328	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	cttcaacgtagacacacatcGagaaaactccgtgacttcaa	6	12	2	3	rs191392189		TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:34962328G>A	ENST00000329357.5	+	1	1416	c.1380G>A	c.(1378-1380)tcG>tcA	p.S460S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	460										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						GACACACATCGAGAAAACTCC	0.468													G|||	2	0.000529801	0	0.0029	3775	,	,		14992	0		0	False		,,,				2504	0					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.(1378-1380)tcG>tcA		family with sequence similarity 47, member B							116	108	111					X																	34962328		2202	4297	6499	SO:0001819	synonymous_variant	170062							g.chrX:34962328G>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.1380G>A	X.37:g.34962328G>A			Somatic					p.S460S	NM_152631.2	NP_689844.2	WXS	Illumina GAIIx	Phase_I	Q8NA70	FA47B_HUMAN			1	1416	+			460					Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.1380G>A	CCDS14236.1																																																																																				0.468	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		44	55	0	0	0	1	0	44	55					A	34962328	G	A	34962328	2	1	47	1	0	0	0	0	0	0	0	1	5578	1045	37	1		1	FAM47B	23	34962328	Silent	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08	17211856	34962328	120308232	57	4460										
USP11	8237	broad.mit.edu	37	chrX	47101057	47101057	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	ttaatcgggtgaagaagaagGagtatgtggagctgtgcgat	16	3	0	3			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:47101057G>T	ENST00000218348.3	+	9	1267	c.1267G>T	c.(1267-1269)Gag>Tag	p.E423*	USP11_ENST00000377107.2_Nonsense_Mutation_p.E380*	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	423	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GAAGAAGAAGGAGTATGTGGA	0.567																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(1138-1140)Gag>Tag		ubiquitin specific peptidase 11							119	99	105					X																	47101057		2203	4300	6503	SO:0001587	stop_gained	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47101057G>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1267G>T	X.37:g.47101057G>T	ENSP00000218348:p.Glu423*		Somatic				USP11_ENST00000218348.3_Nonsense_Mutation_p.E423*	p.E380*			WXS	Illumina GAIIx	Phase_I	P51784	UBP11_HUMAN			9	1492	+			423					B2RTX1|Q8IUG6|Q9BWE1	Nonsense_Mutation	SNP	ENST00000218348.3	37	c.1138G>T	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	36	5.784217	0.96937	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.1621	12.6565	0.56790	0.0:0.1623:0.8377:0.0	.	.	.	.	X	380;423	.	ENSP00000218348:E423X	E	+	1	0	USP11	46986001	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.937000	0.48979	2.235000	0.73313	0.600000	0.82982	GAG		0.567	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		23	23	1	0	1.9806e-07	1	2.22512e-07	23	23					T	47101057	G	T	47101057	4	4	47	1	0	0	0	0	0	1	0	0	17057	1175	41	2	1301	2	USP11	23	47101057	Nonsense_Mutation	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08	12138729	47101057	108169503	58	4461										
SLC7A3	84889	broad.mit.edu	37	chrX	70147405	70147405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	tgtggatccgagcaagtacaCggaacaggaggccatcctct	12	11	1	0			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:70147405C>T	ENST00000374299.3	-	7	1256	c.1112G>A	c.(1111-1113)cGt>cAt	p.R371H	SLC7A3_ENST00000298085.4_Missense_Mutation_p.R371H			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	371					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCAAGTACACGGAACAGGAG	0.587																																						ENST00000374299.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31						c.(1111-1113)cGt>cAt		solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						102	67	79					X																	70147405		2203	4300	6503	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70147405C>T	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1112G>A	X.37:g.70147405C>T	ENSP00000363417:p.Arg371His		Somatic				SLC7A3_ENST00000298085.4_Missense_Mutation_p.R371H	p.R371H			WXS	Illumina GAIIx	Phase_I	Q8WY07	CTR3_HUMAN			7	1256	-	Renal(35;0.156)		371					D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.1112G>A	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889718	0.33348	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.90844	-2.74;-2.74	4.96	1.49	0.22878	Amino acid permease domain (1);	0.312400	0.33496	N	0.004850	D	0.88284	0.6395	M	0.70595	2.14	0.36344	D	0.859655	B	0.19583	0.037	B	0.27715	0.082	D	0.83729	0.0197	10	0.66056	D	0.02	.	7.7656	0.28978	0.0:0.4054:0.0:0.5946	.	371	Q8WY07	CTR3_HUMAN	H	371	ENSP00000363417:R371H;ENSP00000298085:R371H	ENSP00000298085:R371H	R	-	2	0	SLC7A3	70064130	0.035000	0.19736	0.180000	0.23079	0.826000	0.46750	0.402000	0.20965	0.077000	0.16863	0.436000	0.28706	CGT		0.587	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		12	30	0	0	0	1	0	12	30					T	70147405	C	T	70147405	3	4	47	1	0	0	0	0	1	0	0	0	14713	536	19	1	771	1	SLC7A3	23	70147405	Missense_Mutation	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08	23046348	70147405	85123155	59	4462										
ATP7A	538	broad.mit.edu	37	chrX	77298882	77298882	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	agtcaagaggattcggataaAttttgtctttgctctaattt	8	5	3	1			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:77298882A>C	ENST00000341514.6	+	21	4228	c.4073A>C	c.(4072-4074)aAt>aCt	p.N1358T	ATP7A_ENST00000343533.5_Missense_Mutation_p.N1280T|ATP7A_ENST00000350425.4_Missense_Mutation_p.N361T	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1358					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)	ATTCGGATAAATTTTGTCTTT	0.343																																						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.(4072-4074)aAt>aCt		ATPase, Cu++ transporting, alpha polypeptide							151	148	149					X																	77298882		2203	4298	6501	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:77298882A>C	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.4073A>C	X.37:g.77298882A>C	ENSP00000345728:p.Asn1358Thr		Somatic				ATP7A_ENST00000350425.4_Missense_Mutation_p.N361T|ATP7A_ENST00000343533.5_Missense_Mutation_p.N1280T	p.N1358T	NM_000052.5	NP_000043.3	WXS	Illumina GAIIx	Phase_I	Q04656	ATP7A_HUMAN			21	4228	+			1358					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.4073A>C	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.023494	0.75390	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.99716	-6.51;-6.51;-6.51	5.41	5.41	0.78517	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99809	0.9917	H	0.96333	3.805	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96791	0.9582	10	0.87932	D	0	-20.874	14.4366	0.67284	1.0:0.0:0.0:0.0	.	1358	Q04656	ATP7A_HUMAN	T	1280;361;1358	ENSP00000343026:N1280T;ENSP00000343678:N361T;ENSP00000345728:N1358T	ENSP00000345728:N1358T	N	+	2	0	ATP7A	77185538	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	8.859000	0.92264	1.788000	0.52465	0.486000	0.48141	AAT		0.343	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		32	53	0	0	0	1	0	32	53					C	77298882	A	C	77298882	3	2	47	1	0	0	0	0	1	0	0	0	1190	101	4	4	4151	4	ATP7A	23	77298882	Missense_Mutation	SNP	A	TCGA-ND-A4WA-01A-12D-A28R-08	7151477	77298882	77971678	60	4463										
RPS6KA6	27330	broad.mit.edu	37	chrX	83359667	83359667	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	atctaccatcatcaaagaccTacaaaagaacgcagttttaa	4	10	3	2			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:83359667T>A	ENST00000262752.2	-	17	1463		c.e17-2		RPS6KA6_ENST00000543399.1_Splice_Site|RPS6KA6_ENST00000495332.1_Splice_Site	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6						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						ATCAAAGACCTACAAAAGAAC	0.294																																						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.e17-2		ribosomal protein S6 kinase, 90kDa, polypeptide 6							47	41	43					X																	83359667		2202	4296	6498	SO:0001630	splice_region_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:83359667T>A	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.1456-2A>T	X.37:g.83359667T>A			Somatic				RPS6KA6_ENST00000543399.1_Splice_Site|RPS6KA6_ENST00000495332.1_Splice_Site		NM_014496.4	NP_055311.1	WXS	Illumina GAIIx	Phase_I	Q9UK32	KS6A6_HUMAN			17	1463	-								B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Splice_Site	SNP	ENST00000262752.2	37		CCDS14451.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.788782	0.49997	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5176	0.61549	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPS6KA6	83246323	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	7.615000	0.83006	1.723000	0.51488	0.427000	0.28365	.		0.294	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496	Intron	10	13	0	0	0	1	0	10	13					A	83359667	T	A	83359667	5	1	47	1	0	0	0	0	0	0	1	0	13670	1536	53	4	807	4	RPS6KA6	23	83359667	Splice_Site	SNP	T	TCGA-ND-A4WA-01A-12D-A28R-08	6060785	83359667	71910893	61	4464										
PCDH11X	27328	broad.mit.edu	37	chrX	91090729	91090729	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	ccggagatgtgccactgattCgaattgaagaggatactggt	13	7	0	4			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:91090729C>T	ENST00000373094.1	+	1	1071	c.226C>T	c.(226-228)Cga>Tga	p.R76*	PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000504220.2_Nonsense_Mutation_p.R76*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	76	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						GCCACTGATTCGAATTGAAGA	0.443																																					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.(226-228)Cga>Tga		protocadherin 11 X-linked							196	163	174					X																	91090729		2203	4300	6503	SO:0001587	stop_gained	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090729C>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.226C>T	X.37:g.91090729C>T	ENSP00000362186:p.Arg76*		Somatic				PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000504220.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.R76*	p.R76*	NM_032968.3	NP_116750.1	WXS	Illumina GAIIx	Phase_I	Q9BZA7	PC11X_HUMAN			1	1071	+			76			Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Nonsense_Mutation	SNP	ENST00000373094.1	37	c.226C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283591	0.59867	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	.	.	.	4.06	2.01	0.26516	.	0.078447	0.48767	D	0.000165	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6815	0.51461	0.3941:0.6059:0.0:0.0	.	.	.	.	X	76	.	ENSP00000298274:R76X	R	+	1	2	PCDH11X	90977385	0.654000	0.27367	0.960000	0.40013	0.236000	0.25371	0.527000	0.22987	0.784000	0.33661	0.506000	0.49869	CGA		0.443	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		52	102	0	0	0	1	0	52	102					T	91090729	C	T	91090729	4	4	47	1	0	0	0	0	0	1	0	0	11517	876	31	1	228	1	PCDH11X	23	91090729	Nonsense_Mutation	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08	7731062	91090729	64179831	62	4465										
CSTF2	1478	broad.mit.edu	37	chrX	100079128	100079128	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	gaaaattctgcatcgccagaCaaatatcccaacgctgattg	7	11	1	2			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:100079128C>A	ENST00000372972.2	+	6	600	c.584C>A	c.(583-585)aCa>aAa	p.T195K	CSTF2_ENST00000415585.2_Missense_Mutation_p.T195K|SNORA9_ENST00000365361.1_RNA	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	195	Interactions with CSTF3 and SYMPK.				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)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CATCGCCAGACAAATATCCCA	0.473																																						ENST00000415585.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						c.(583-585)aCa>aAa		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa							100	96	97					X																	100079128		2203	4300	6503	SO:0001583	missense	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding	g.chrX:100079128C>A	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"RNA binding motif (RRM) containing"	2484	protein-coding gene	gene with protein product		300907	"cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.584C>A	X.37:g.100079128C>A	ENSP00000362063:p.Thr195Lys		Somatic				CSTF2_ENST00000372972.2_Missense_Mutation_p.T195K|CSTF2_ENST00000486615.1_Intron	p.T195K			WXS	Illumina GAIIx	Phase_I	P33240	CSTF2_HUMAN			6	606	+			195			Interactions with CSTF3 and SYMPK.		Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	37	c.584C>A	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.743094	0.49151	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320;ENST00000413437	T;T;T	0.13657	2.73;2.71;2.57	5.59	5.59	0.84812	.	0.188085	0.56097	D	0.000023	T	0.12092	0.0294	L	0.34521	1.04	0.52501	D	0.999956	B;B;B	0.18310	0.016;0.027;0.016	B;B;B	0.19666	0.011;0.026;0.011	T	0.08889	-1.0700	10	0.07175	T	0.84	-11.682	18.6444	0.91406	0.0:1.0:0.0:0.0	.	195;195;195	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	K	195;195;195;186	ENSP00000387996:T195K;ENSP00000362063:T195K;ENSP00000415705:T186K	ENSP00000362063:T195K	T	+	2	0	CSTF2	99965784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.117000	0.71577	2.346000	0.79739	0.600000	0.82982	ACA		0.473	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		30	84	1	0	2.80507e-11	1	3.23116e-11	30	84					A	100079128	C	A	100079128	3	1	47	1	0	0	0	0	1	0	0	0	3986	478	17	5	606	5	CSTF2	23	100079128	Missense_Mutation	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08	8988399	100079128	55191432	63	4466										
TREX2	11219	broad.mit.edu	37	chrX	152710335	152710335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	cctcggctgagtgggctgcgCttggctctgcccggaagtag	16	12	1	1			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:152710335C>T	ENST00000334497.2	-	11	1824	c.683G>A	c.(682-684)aGc>aAc	p.S228N	TREX2_ENST00000338525.2_Missense_Mutation_p.S185N|HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000370232.1_Missense_Mutation_p.S228N|TREX2_ENST00000414588.1_Missense_Mutation_p.S227N|TREX2_ENST00000370231.2_Missense_Mutation_p.S185N|TREX2_ENST00000402951.1_Missense_Mutation_p.S228N|TREX2_ENST00000330912.2_Missense_Mutation_p.S185N|TREX2_ENST00000393862.2_Missense_Mutation_p.S185N			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	228					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGCTGCGCTTGGCTCTGC	0.736								Editing and processing nucleases																														ENST00000330912.2																			0				endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11						c.(553-555)aGc>aAc	Editing and processing nucleases	three prime repair exonuclease 2							15	14	14					X																	152710335		2185	4270	6455	SO:0001583	missense	11219				DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	g.chrX:152710335C>T	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.683G>A	X.37:g.152710335C>T	ENSP00000334993:p.Ser228Asn		Somatic				TREX2_ENST00000370231.2_Missense_Mutation_p.S185N|TREX2_ENST00000393862.2_Missense_Mutation_p.S185N|TREX2_ENST00000370232.1_Missense_Mutation_p.S228N|TREX2_ENST00000414588.1_Missense_Mutation_p.S227N|TREX2_ENST00000338525.2_Missense_Mutation_p.S185N|TREX2_ENST00000334497.2_Missense_Mutation_p.S228N|TREX2_ENST00000402951.1_Missense_Mutation_p.S228N	p.S185N			WXS	Illumina GAIIx	Phase_I	Q9BQ50	TREX2_HUMAN			13	2104	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		228					Q45F08|Q9UN77	Missense_Mutation	SNP	ENST00000334497.2	37	c.554G>A		.	.	.	.	.	.	.	.	.	.	C	1.377	-0.584519	0.03827	.	.	ENSG00000183479	ENST00000393862;ENST00000330912;ENST00000338525;ENST00000334497;ENST00000370232;ENST00000402951;ENST00000414588;ENST00000370231	T;T;T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04	4.76	2.66	0.31614	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	1.633110	0.04329	U	0.351943	T	0.12561	0.0305	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30534	-0.9975	10	0.18710	T	0.47	-8.3273	2.1922	0.03902	0.2484:0.4217:0.0:0.3299	.	227;228	Q06S70;Q9BQ50	.;TREX2_HUMAN	N	185;185;185;228;228;228;227;185	ENSP00000377442:S185N;ENSP00000333441:S185N;ENSP00000345218:S185N;ENSP00000334993:S228N;ENSP00000359252:S228N;ENSP00000386078:S228N;ENSP00000401692:S227N;ENSP00000359251:S185N	ENSP00000333441:S185N	S	-	2	0	TREX2	152363529	0.000000	0.05858	0.028000	0.17463	0.137000	0.21094	0.130000	0.15850	0.812000	0.34326	0.468000	0.43344	AGC		0.736	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	NM_080701		12	4	0	0	0	1	0	12	4					T	152710335	C	T	152710335	3	4	47	1	0	0	0	0	1	0	0	0	16492	797	28	3	159	3	TREX2	23	152710335	Missense_Mutation	SNP	C	TCGA-ND-A4WA-01A-12D-A28R-08	52631207	152710335	2560225	64	4467										
FLNA	2316	broad.mit.edu	37	chrX	153590696	153590696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0461538461538462	3	1	0.661642411642412	5.44017094017094	0.24000754147813	1	1	0	ctcggatggggctggtgggcGtggcctgcaggcagtgggag	22	8	0	0			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:153590696G>A	ENST00000369850.3	-	18	2806	c.2570C>T	c.(2569-2571)aCg>aTg	p.T857M	FLNA_ENST00000360319.4_Missense_Mutation_p.T857M|FLNA_ENST00000422373.1_Missense_Mutation_p.T857M|FLNA_ENST00000344736.4_Missense_Mutation_p.T857M	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	857					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGGTGGGCGTGGCCTGCAG	0.637																																						ENST00000422373.1																			0				breast(6)	6						c.(2569-2571)aCg>aTg		filamin A, alpha							45	52	49					X																	153590696		2123	4203	6326	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153590696G>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.2570C>T	X.37:g.153590696G>A	ENSP00000358866:p.Thr857Met		Somatic				FLNA_ENST00000369850.3_Missense_Mutation_p.T857M|FLNA_ENST00000344736.4_Missense_Mutation_p.T857M|FLNA_ENST00000360319.4_Missense_Mutation_p.T857M	p.T857M	NM_001456.3	NP_001447.2	WXS	Illumina GAIIx	Phase_I	P21333	FLNA_HUMAN			18	2818	-	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)		857					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.2570C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344021	0.61073	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	4.91	4.91	0.64330	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.069870	0.56097	D	0.000037	T	0.59770	0.2218	N	0.22421	0.69	0.80722	D	1	P;D	0.54047	0.956;0.964	P;P	0.54924	0.651;0.764	T	0.64651	-0.6357	10	0.87932	D	0	.	11.4197	0.49974	0.0984:0.0:0.9016:0.0	.	857;857	P21333-2;P21333	.;FLNA_HUMAN	M	857;830;857;857;857	ENSP00000353467:T857M;ENSP00000416926:T857M;ENSP00000358866:T857M;ENSP00000358863:T857M	ENSP00000358863:T857M	T	-	2	0	FLNA	153243890	0.998000	0.40836	0.988000	0.46212	0.907000	0.53573	3.136000	0.50554	2.156000	0.67533	0.529000	0.55759	ACG		0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			34	85	0	0	0	1	0	34	85					A	153590696	G	A	153590696	3	1	47	1	0	0	0	0	1	0	0	0	5941	1145	40	1	5497	1	FLNA	23	153590696	Missense_Mutation	SNP	G	TCGA-ND-A4WA-01A-12D-A28R-08	880361	153590696	1679864	65	4468										
CPSF3L	54973	broad.mit.edu	37	chr1	1248900	1248900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgccctcaccatgttcttttCgtttccggcccatttccgga	7	15	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:1248900C>T	ENST00000435064.1	-	10	1112	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K	CPSF3L_ENST00000450926.2_Missense_Mutation_p.E322K|CPSF3L_ENST00000545578.1_Missense_Mutation_p.E315K|CPSF3L_ENST00000411962.1_Missense_Mutation_p.E246K|CPSF3L_ENST00000421495.2_Missense_Mutation_p.E86K|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000419704.1_Missense_Mutation_p.E243K|CPSF3L_ENST00000540437.1_Missense_Mutation_p.E350K	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	344					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		ATGTTCTTTTCGTTTCCGGCC	0.592																																						ENST00000540437.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(1048-1050)Gaa>Aaa		cleavage and polyadenylation specific factor 3-like							112	86	95					1																	1248900		2203	4298	6501	SO:0001583	missense	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1248900C>T	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.1030G>A	1.37:g.1248900C>T	ENSP00000413493:p.Glu344Lys		Somatic				CPSF3L_ENST00000419704.1_Missense_Mutation_p.E243K|CPSF3L_ENST00000421495.2_Missense_Mutation_p.E86K|CPSF3L_ENST00000435064.1_Missense_Mutation_p.E344K|CPSF3L_ENST00000545578.1_Missense_Mutation_p.E315K|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000450926.2_Missense_Mutation_p.E322K|CPSF3L_ENST00000411962.1_Missense_Mutation_p.E246K	p.E350K	NM_001256456.1	NP_001243385.1	WXS	Illumina GAIIx	Phase_I	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	12	1503	-	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)	344					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	c.1048G>A	CCDS21.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676591	0.67928	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000294579;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578	T;T;T;T;T	0.46819	0.92;0.92;0.92;0.92;0.86	4.8	4.8	0.61643	Beta-Casp domain (1);	0.108665	0.64402	D	0.000008	T	0.45955	0.1368	L	0.45744	1.44	0.80722	D	1	P;P;P;P;P;P	0.47484	0.603;0.655;0.896;0.873;0.644;0.471	B;B;B;B;B;B	0.42163	0.176;0.269;0.378;0.26;0.134;0.21	T	0.49916	-0.8888	10	0.48119	T	0.1	-41.4491	18.0305	0.89282	0.0:1.0:0.0:0.0	.	322;315;246;243;350;344	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	K	344;246;237;243;350;322;315	ENSP00000413493:E344K;ENSP00000404886:E243K;ENSP00000445001:E350K;ENSP00000392848:E322K;ENSP00000444672:E315K	ENSP00000294579:E237K	E	-	1	0	CPSF3L	1238763	1.000000	0.71417	0.998000	0.56505	0.478000	0.33099	7.138000	0.77305	2.490000	0.84030	0.563000	0.77884	GAA		0.592	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		25	36	0	0	0	1	0	25	36					T	1248900	C	T	1248900	3	4	48	1	0	0	0	0	1	0	0	0	3829	893	31	1	804	1	CPSF3L	1	1248900	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08		1248900	248001721	1	4469										
TAS1R3	83756	broad.mit.edu	37	chr1	1268175	1268175	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccccgcgcaggaccccgtgAagccctggcaggtgagcccg	15	17	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:1268175A>C	ENST00000339381.5	+	3	1296	c.1264A>C	c.(1264-1266)Aag>Cag	p.K422Q		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	422					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GGACCCCGTGAAGCCCTGGCA	0.672																																						ENST00000339381.5																			0				kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1264-1266)Aag>Cag		taste receptor, type 1, member 3	Aspartame(DB00168)						21	23	22					1																	1268175		2197	4294	6491	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1268175A>C	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1264A>C	1.37:g.1268175A>C	ENSP00000344411:p.Lys422Gln		Somatic					p.K422Q	NM_152228.1	NP_689414.1	WXS	Illumina GAIIx	Phase_I	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	3	1296	+	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)	422					Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.1264A>C	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	A	7.120	0.577756	0.13686	.	.	ENSG00000169962	ENST00000339381	D	0.85955	-2.05	4.59	2.61	0.31194	Extracellular ligand-binding receptor (1);	2.120880	0.02207	N	0.062843	T	0.70298	0.3208	N	0.01779	-0.725	0.09310	N	1	B	0.16166	0.016	B	0.16722	0.016	T	0.57596	-0.7784	10	0.18710	T	0.47	.	12.7456	0.57280	0.5279:0.4721:0.0:0.0	.	422	Q7RTX0	TS1R3_HUMAN	Q	422	ENSP00000344411:K422Q	ENSP00000344411:K422Q	K	+	1	0	TAS1R3	1258038	0.002000	0.14202	0.068000	0.19968	0.272000	0.26649	0.126000	0.15769	0.329000	0.23460	-0.396000	0.06452	AAG		0.672	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			13	24	0	0	0	1	0	13	24					C	1268175	A	C	1268175	3	2	48	1	0	0	0	0	1	0	0	0	15579	247	9	4	1274	4	TAS1R3	1	1268175	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	19275	1268175	247982446	2	4470										
DVL1	1855	broad.mit.edu	37	chr1	1284285	1284285	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggccgactgacccgaagtccTggtccatggacttaaagaag	12	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:1284285T>C	ENST00000378888.5	-	1	445	c.161A>G	c.(160-162)cAg>cGg	p.Q54R	DVL1_ENST00000378891.5_Missense_Mutation_p.Q54R			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	54	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCGAAGTCCTGGTCCATGGA	0.706																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(160-162)cAg>cGg		dishevelled segment polarity protein 1							26	27	27					1																	1284285		2174	4289	6463	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1284285T>C	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.161A>G	1.37:g.1284285T>C	ENSP00000368166:p.Gln54Arg		Somatic				DVL1_ENST00000378891.5_Missense_Mutation_p.Q54R	p.Q54R			WXS	Illumina GAIIx	Phase_I	O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	1	445	-	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)	54			DIX.		Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.161A>G		.	.	.	.	.	.	.	.	.	.	t	10.55	1.381367	0.24944	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100	T;T	0.41400	1.0;1.0	3.67	2.49	0.30216	.	0.154470	0.44902	U	0.000404	T	0.29126	0.0724	L	0.48362	1.52	0.40103	D	0.976394	D	0.52996	0.957	B	0.36464	0.225	T	0.08827	-1.0703	10	0.72032	D	0.01	.	7.3124	0.26481	0.1971:0.0:0.0:0.8029	.	54	O14640-2	.	R	54	ENSP00000368169:Q54R;ENSP00000368166:Q54R	ENSP00000340031:Q54R	Q	-	2	0	DVL1	1274148	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	5.437000	0.66544	0.296000	0.22592	-0.702000	0.03669	CAG		0.706	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		11	9	0	0	0	1	0	11	9					C	1284285	T	C	1284285	3	2	48	1	0	0	0	0	1	0	0	0	4837	1580	55	4	1911	4	DVL1	1	1284285	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	16110	1284285	247966336	3	4471										
TP73	7161	broad.mit.edu	37	chr1	3624317	3624317	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccaccactttgaggtcactTtccagcagtccagcacggcc	8	17	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:3624317T>G	ENST00000378295.4	+	4	546	c.391T>G	c.(391-393)Ttc>Gtc	p.F131V	TP73_ENST00000378288.4_Missense_Mutation_p.F82V|TP73_ENST00000378290.4_Missense_Mutation_p.F60V|TP73_ENST00000378285.1_Missense_Mutation_p.F82V|TP73_ENST00000603362.1_Missense_Mutation_p.F131V|TP73_ENST00000378280.1_Missense_Mutation_p.F82V|TP73_ENST00000604074.1_Missense_Mutation_p.F131V|TP73_ENST00000354437.4_Missense_Mutation_p.F131V|TP73_ENST00000357733.3_Missense_Mutation_p.F131V|TP73_ENST00000346387.4_Missense_Mutation_p.F131V|TP73_ENST00000604479.1_Missense_Mutation_p.F131V	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	131	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TGAGGTCACTTTCCAGCAGTC	0.662																																						ENST00000378295.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20						c.(391-393)Ttc>Gtc		tumor protein p73							53	49	50					1																	3624317		2202	4300	6502	SO:0001583	missense	7161				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3624317T>G	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.391T>G	1.37:g.3624317T>G	ENSP00000367545:p.Phe131Val		Somatic				TP73_ENST00000603362.1_Missense_Mutation_p.F131V|TP73_ENST00000346387.4_Missense_Mutation_p.F131V|TP73_ENST00000378290.4_Missense_Mutation_p.F60V|TP73_ENST00000604479.1_Missense_Mutation_p.F131V|TP73_ENST00000604074.1_Missense_Mutation_p.F131V|TP73_ENST00000378280.1_Missense_Mutation_p.F82V|TP73_ENST00000378285.1_Missense_Mutation_p.F82V|TP73_ENST00000378288.4_Missense_Mutation_p.F82V|TP73_ENST00000357733.3_Missense_Mutation_p.F131V|TP73_ENST00000354437.4_Missense_Mutation_p.F131V	p.F131V	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	WXS	Illumina GAIIx	Phase_I	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	4	546	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	131			DNA-binding (Potential).		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	ENST00000378295.4	37	c.391T>G	CCDS49.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.764335	0.89932	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	4.6	4.6	0.57074	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.111829	0.64402	D	0.000007	D	0.99799	0.9914	M	0.76328	2.33	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	0.91635	0.999;0.995;0.999;0.996;0.992;0.999;0.997	D	0.96649	0.9480	10	0.87932	D	0	-27.4102	13.1593	0.59535	0.0:0.0:0.0:1.0	.	82;60;82;82;82;131;131	B7Z8Z1;B7Z7J4;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;.;P73_HUMAN	V	131;131;131;131;82;82;82;60	ENSP00000367545:F131V;ENSP00000346423:F131V;ENSP00000350366:F131V;ENSP00000340740:F131V;ENSP00000367537:F82V;ENSP00000367534:F82V;ENSP00000367529:F82V;ENSP00000367539:F60V	ENSP00000340740:F131V	F	+	1	0	TP73	3614177	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.889000	0.87307	1.704000	0.51252	0.402000	0.26972	TTC		0.662	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4	NM_005427		6	71	0	0	0	1	0	6	71					G	3624317	T	G	3624317	3	3	48	1	0	0	0	0	1	0	0	0	16408	1841	64	4	444	4	TP73	1	3624317	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2340032	3624317	245626304	4	4472										
CCDC27	148870	broad.mit.edu	37	chr1	3680364	3680364	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acgctgcagaaggagctccgAgagcggaggcagcagctaca	15	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:3680364A>G	ENST00000294600.2	+	8	1500	c.1416A>G	c.(1414-1416)cgA>cgG	p.R472R		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	472										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)		AGGAGCTCCGAGAGCGGAGGC	0.567																																						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.(1414-1416)cgA>cgG		coiled-coil domain containing 27							43	43	43					1																	3680364		2203	4300	6503	SO:0001819	synonymous_variant	148870							g.chr1:3680364A>G		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.1416A>G	1.37:g.3680364A>G			Somatic					p.R472R	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)	8	1500	+	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)	472					Q5TBV3|Q96M50	Silent	SNP	ENST00000294600.2	37	c.1416A>G	CCDS50.1																																																																																				0.567	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		34	43	0	0	0	1	0	34	43					G	3680364	A	G	3680364	2	3	48	1	0	0	0	0	0	0	0	1	2803	291	11	4		4	CCDC27	1	3680364	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	56047	3680364	245570257	5	4473										
KIAA0562	9731	broad.mit.edu	37	chr1	3739988	3739988	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcctgggaaggggcactcacGgttgcaatccttgtgtttta	13	9	1	0	rs548824624	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:3739988G>A	ENST00000378230.3	-	19	2827	c.2503C>T	c.(2503-2505)Cct>Tct	p.P835S		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	835						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GGGCACTCACGGTTGCAATCC	0.537													G|||	2	0.000399361	0	0	5008	,	,		18487	0		0	False		,,,				2504	0.002					ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.e19+1		centrosomal protein 104kDa							169	148	155					1																	3739988		2203	4300	6503	SO:0001630	splice_region_variant	9731					centriole	binding	g.chr1:3739988G>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2503+1C>T	1.37:g.3739988G>A			Somatic					p.P835_splice	NM_014704.3	NP_055519.1	WXS	Illumina GAIIx	Phase_I	O60308	CE104_HUMAN			19	2827	-			835					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Splice_Site	SNP	ENST00000378230.3	37	c.2503_splice	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228663	0.39399	.	.	ENSG00000116198	ENST00000378230	T	0.32515	1.45	5.68	5.68	0.88126	.	0.220883	0.37623	N	0.002006	T	0.46776	0.1410	M	0.78049	2.395	0.80722	D	1	D	0.61697	0.99	P	0.51297	0.665	T	0.46665	-0.9175	9	.	.	.	.	14.5859	0.68322	0.0:0.2582:0.7418:0.0	.	835	O60308	CE104_HUMAN	S	835	ENSP00000367476:P835S	.	P	-	1	0	CEP104	3729848	1.000000	0.71417	0.989000	0.46669	0.079000	0.17450	1.650000	0.37292	2.670000	0.90874	0.655000	0.94253	CCT		0.537	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704	Missense_Mutation	32	76	0	0	0	1	0	32	76					A	3739988	G	A	3739988	5	1	48	1	0	0	0	0	0	0	1	0	8193	1130	39	1	290	1	KIAA0562	1	3739988	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	59624	3739988	245510633	6	4474										
CHD5	26038	broad.mit.edu	37	chr1	6190375	6190375	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagaggaggaagcagaactgCtgggccccgggggctgaaaa	18	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6190375C>A	ENST00000262450.3	-	22	3375	c.3276G>T	c.(3274-3276)caG>caT	p.Q1092H	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)		AGCAGAACTGCTGGGCCCCGG	0.612																																						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.(3274-3276)caG>caT		chromodomain helicase DNA binding protein 5							52	53	53					1																	6190375		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.chr1:6190375C>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3276G>T	1.37:g.6190375C>A	ENSP00000262450:p.Gln1092His		Somatic				CHD5_ENST00000378021.1_5'UTR	p.Q1092H	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)	22	3375	-	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)	1092			Helicase C-terminal.		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.3276G>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.450784	0.63290	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.95724	-3.79	5.11	2.15	0.27550	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000002	D	0.95143	0.8426	L	0.42008	1.315	0.80722	D	1	D	0.61697	0.99	P	0.62298	0.9	D	0.93870	0.7161	10	0.72032	D	0.01	-34.9643	9.4663	0.38816	0.0:0.7645:0.0:0.2355	.	1092	Q8TDI0	CHD5_HUMAN	H	1092;608;500;500	ENSP00000262450:Q1092H	ENSP00000262450:Q1092H	Q	-	3	2	CHD5	6112962	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	2.546000	0.45778	0.636000	0.30508	-0.258000	0.10820	CAG		0.612	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		22	39	1	0	3.8784e-16	1	5.13982e-16	22	39					A	6190375	C	A	6190375	3	1	48	1	0	0	0	0	1	0	0	0	3330	796	28	5	2668	5	CHD5	1	6190375	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2450387	6190375	243060246	7	4475										
CHD5	26038	broad.mit.edu	37	chr1	6202593	6202593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcgcagccagttgaggccctCcagctggtacgggtgcagtg	16	12	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6202593C>T	ENST00000262450.3	-	14	2215	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	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)		TTGAGGCCCTCCAGCTGGTAC	0.627																																						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.(2116-2118)Gag>Aag		chromodomain helicase DNA binding protein 5							125	89	101					1																	6202593		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.chr1:6202593C>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.2116G>A	1.37:g.6202593C>T	ENSP00000262450:p.Glu706Lys		Somatic				CHD5_ENST00000378021.1_5'UTR	p.E706K	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)	14	2215	-	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)	706					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.2116G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978600	0.92982	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.93426	-3.22	3.43	3.43	0.39272	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.95802	0.8634	M	0.67625	2.065	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.96419	0.9310	10	0.87932	D	0	-30.4906	15.3972	0.74805	0.0:1.0:0.0:0.0	.	706	Q8TDI0	CHD5_HUMAN	K	706;222;114;114	ENSP00000262450:E706K	ENSP00000262450:E706K	E	-	1	0	CHD5	6125180	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.554000	0.82212	1.895000	0.54865	0.561000	0.74099	GAG		0.627	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		34	61	0	0	0	1	0	34	61					T	6202593	C	T	6202593	3	4	48	1	0	0	0	0	1	0	0	0	3330	864	30	3	3860	3	CHD5	1	6202593	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	12218	6202593	243048028	8	4476										
CHD5	26038	broad.mit.edu	37	chr1	6228304	6228304	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgggctccacagggaaaaagTcatcgaaggcttcaagacca	11	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6228304T>C	ENST00000262450.3	-	2	212	c.113A>G	c.(112-114)gAc>gGc	p.D38G	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)		AGGGAAAAAGTCATCGAAGGC	0.493																																						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.(112-114)gAc>gGc		chromodomain helicase DNA binding protein 5							161	164	163					1																	6228304		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.chr1:6228304T>C	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.113A>G	1.37:g.6228304T>C	ENSP00000262450:p.Asp38Gly		Somatic				CHD5_ENST00000378021.1_5'UTR	p.D38G	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	212	-	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)	38					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.113A>G	CCDS57.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.952673	0.53293	.	.	ENSG00000116254	ENST00000262450	D	0.91740	-2.9	5.09	3.96	0.45880	.	0.246007	0.24638	U	0.036837	D	0.88036	0.6329	L	0.50333	1.59	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.82615	-0.0370	10	0.51188	T	0.08	-26.6856	8.3673	0.32393	0.0:0.0916:0.0:0.9084	.	38	Q8TDI0	CHD5_HUMAN	G	38	ENSP00000262450:D38G	ENSP00000262450:D38G	D	-	2	0	CHD5	6150891	0.993000	0.37304	0.799000	0.32177	0.639000	0.38242	2.028000	0.41088	0.779000	0.33543	0.260000	0.18958	GAC		0.493	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		55	120	0	0	0	1	0	55	120					C	6228304	T	C	6228304	3	2	48	1	0	0	0	0	1	0	0	0	3330	1667	58	4	5911	4	CHD5	1	6228304	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	25711	6228304	243022317	9	4477										
GPR153	387509	broad.mit.edu	37	chr1	6314737	6314737	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcagagaccctcattccactCgaagtcggggcgctgccgcc	12	16	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6314737C>T	ENST00000377893.2	-	2	488	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		TCATTCCACTCGAAGTCGGGG	0.617																																						ENST00000377893.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14						c.(229-231)Gag>Aag		G protein-coupled receptor 153							153	132	139					1																	6314737		2203	4300	6503	SO:0001583	missense	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6314737C>T	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"GPCR / Class A : Orphans"	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.229G>A	1.37:g.6314737C>T	ENSP00000367125:p.Glu77Lys		Somatic					p.E77K	NM_207370.2	NP_997253.2	WXS	Illumina GAIIx	Phase_I	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	2	488	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	77					Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	37	c.229G>A	CCDS64.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191128	0.94923	.	.	ENSG00000158292	ENST00000377893	T	0.37235	1.21	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.30621	-0.9972	10	0.27785	T	0.31	-46.7377	17.7842	0.88532	0.0:1.0:0.0:0.0	.	77	Q6NV75	GP153_HUMAN	K	77	ENSP00000367125:E77K	ENSP00000367125:E77K	E	-	1	0	GPR153	6237324	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.757000	0.85209	2.534000	0.85438	0.557000	0.71058	GAG		0.617	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			48	106	0	0	0	1	0	48	106					T	6314737	C	T	6314737	3	4	48	1	0	0	0	0	1	0	0	0	6667	893	31	1	1620	1	GPR153	1	6314737	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	86433	6314737	242935884	10	4478										
DNAJC11	55735	broad.mit.edu	37	chr1	6712926	6712926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgaagttactcgtctgagcGcaaagttaatggaacctcct	9	11	1	1	rs201917830		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6712926G>A	ENST00000377577.5	-	6	716	c.593C>T	c.(592-594)gCg>gTg	p.A198V	DNAJC11_ENST00000294401.7_Missense_Mutation_p.A198V|DNAJC11_ENST00000377573.5_Missense_Mutation_p.A108V|DNAJC11_ENST00000349363.6_Missense_Mutation_p.A160V|DNAJC11_ENST00000542246.1_Missense_Mutation_p.A160V	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	198						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|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;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTCTGAGCGCAAAGTTAAT	0.463													G|||	1	0.000199681	0	0	5008	,	,		21104	0.001		0	False		,,,				2504	0					ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(592-594)gCg>gTg		DnaJ (Hsp40) homolog, subfamily C, member 11							143	133	136					1																	6712926		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6712926G>A	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.593C>T	1.37:g.6712926G>A	ENSP00000366800:p.Ala198Val		Somatic				DNAJC11_ENST00000377573.5_Missense_Mutation_p.A108V|DNAJC11_ENST00000542246.1_Missense_Mutation_p.A160V|DNAJC11_ENST00000349363.6_Missense_Mutation_p.A160V|DNAJC11_ENST00000294401.7_Missense_Mutation_p.A198V	p.A198V	NM_018198.3	NP_060668.2	WXS	Illumina GAIIx	Phase_I	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	6	716	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|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)	198					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.593C>T	CCDS87.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	24.7	4.564034	0.86335	.	.	ENSG00000007923	ENST00000377577;ENST00000451196;ENST00000349363;ENST00000294401;ENST00000542246;ENST00000377573;ENST00000426784	T;T;T;T;T;T;T	0.31247	2.63;1.91;1.5;2.64;2.38;2.06;2.52	5.36	5.36	0.76844	.	0.102446	0.64402	D	0.000002	T	0.25901	0.0631	L	0.44542	1.39	0.80722	D	1	P;B;B;P	0.47253	0.87;0.449;0.212;0.892	B;B;B;B	0.37144	0.081;0.037;0.043;0.242	T	0.04467	-1.0949	10	0.17369	T	0.5	-0.6343	18.4511	0.90704	0.0:0.0:1.0:0.0	.	108;174;198;198	B4DGD5;Q5TH61;Q9NVH1-3;Q9NVH1	.;.;.;DJC11_HUMAN	V	198;174;160;198;160;108;198	ENSP00000366800:A198V;ENSP00000415871:A174V;ENSP00000326304:A160V;ENSP00000294401:A198V;ENSP00000444020:A160V;ENSP00000366796:A108V;ENSP00000410194:A198V	ENSP00000294401:A198V	A	-	2	0	DNAJC11	6635513	1.000000	0.71417	0.678000	0.29963	0.990000	0.78478	6.150000	0.71801	2.666000	0.90696	0.655000	0.94253	GCG		0.463	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		32	47	0	0	0	1	0	32	47					A	6712926	G	A	6712926	3	1	48	1	0	0	0	0	1	0	0	0	4632	1087	38	1	1130	1	DNAJC11	1	6712926	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	398189	6712926	242537695	11	4479										
UTS2	10911	broad.mit.edu	37	chr1	7910941	7910941	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatctgtagaagggaagctcTttctagctcctccggagtta	10	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:7910941T>G	ENST00000361696.5	-	2	176	c.145A>C	c.(145-147)Aga>Cga	p.R49R	UTS2_ENST00000054668.5_Silent_p.R64R|UTS2_ENST00000377516.2_Silent_p.R49R	NM_006786.3	NP_006777.1	O95399	UTS2_HUMAN	urotensin 2	49					muscle contraction (GO:0006936)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell differentiation (GO:0045597)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of heart rate (GO:0010460)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to testosterone (GO:0033574)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;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;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		AGGGAAGCTCTTTCTAGCTCC	0.438																																						ENST00000377516.2																			0				kidney(1)|lung(4)|urinary_tract(1)	6						c.(145-147)Aga>Cga		urotensin 2							127	124	125					1																	7910941		2203	4300	6503	SO:0001819	synonymous_variant	10911				muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity	g.chr1:7910941T>G	AF104118	CCDS90.1, CCDS91.1	1p36	2013-02-28			ENSG00000049247	ENSG00000049247		"Endogenous ligands"	12636	protein-coding gene	gene with protein product	"prepro U-II"	604097				9861051, 10499587	Standard	NM_021995		Approved	UII, U-II, UCN2, PRO1068	uc001aos.3	O95399	OTTHUMG00000001218	ENST00000361696.5:c.145A>C	1.37:g.7910941T>G			Somatic				UTS2_ENST00000361696.5_Silent_p.R49R|UTS2_ENST00000054668.5_Silent_p.R64R	p.R49R			WXS	Illumina GAIIx	Phase_I	O95399	UTS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)	3	465	-	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	49					Q5H8X7|Q6UXF6|Q9UKP7	Silent	SNP	ENST00000361696.5	37	c.145A>C	CCDS91.1																																																																																				0.438	UTS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003612.1	NM_006786		26	53	0	0	0	1	0	26	53					G	7910941	T	G	7910941	2	3	48	1	0	0	0	0	0	0	0	1	17119	1617	56	4		4	UTS2	1	7910941	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1198015	7910941	241339680	12	4480										
H6PD	9563	broad.mit.edu	37	chr1	9324611	9324611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggtggccaacagcagcttcGacctggtgctgctgggcatg	15	11	0	0	rs538464231		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:9324611G>A	ENST00000377403.2	+	5	2361	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N	H6PD_ENST00000602477.1_Missense_Mutation_p.D698N	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	687	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CAGCAGCTTCGACCTGGTGCT	0.667													G|||	1	0.000199681	0	0	5008	,	,		18801	0.001		0	False		,,,				2504	0					ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(2059-2061)Gac>Aac		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						54	56	55					1																	9324611		2203	4299	6502	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9324611G>A	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.2059G>A	1.37:g.9324611G>A	ENSP00000366620:p.Asp687Asn		Somatic				H6PD_ENST00000602477.1_Missense_Mutation_p.D698N	p.D687N	NM_004285.3	NP_004276.2	WXS	Illumina GAIIx	Phase_I	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	2361	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	687			6-phosphogluconolactonase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.2059G>A	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374139	0.82573	.	.	ENSG00000049239	ENST00000377403	T	0.65364	-0.15	5.72	5.72	0.89469	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.045890	0.85682	D	0.000000	D	0.85911	0.5807	H	0.95712	3.71	0.47949	D	0.999555	D	0.89917	1.0	D	0.79108	0.992	D	0.89460	0.3736	10	0.72032	D	0.01	-49.7456	18.8652	0.92289	0.0:0.0:1.0:0.0	.	687	O95479	G6PE_HUMAN	N	687	ENSP00000366620:D687N	ENSP00000366620:D687N	D	+	1	0	H6PD	9247198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.810000	0.75216	2.709000	0.92574	0.561000	0.74099	GAC		0.667	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		46	77	0	0	0	1	0	46	77					A	9324611	G	A	9324611	3	1	48	1	0	0	0	0	1	0	0	0	6945	1058	37	1	2073	1	H6PD	1	9324611	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1413670	9324611	239926010	13	4481										
CLSTN1	22883	broad.mit.edu	37	chr1	9811693	9811693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtaggacttctccttgaacaCgggcgcgtactcattcacgt	10	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:9811693C>T	ENST00000377298.4	-	5	1279	c.487G>A	c.(487-489)Gtg>Atg	p.V163M	CLSTN1_ENST00000377288.3_Missense_Mutation_p.V163M|CLSTN1_ENST00000361311.4_Missense_Mutation_p.V153M	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	163	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTTGAACACGGGCGCGTAC	0.507																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(487-489)Gtg>Atg		calsyntenin 1							97	86	90					1																	9811693		2203	4300	6503	SO:0001583	missense	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9811693C>T	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.487G>A	1.37:g.9811693C>T	ENSP00000366513:p.Val163Met		Somatic				CLSTN1_ENST00000361311.4_Missense_Mutation_p.V153M|CLSTN1_ENST00000377288.3_Missense_Mutation_p.V163M	p.V163M	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)	5	1279	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	163			Cadherin 1.		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	c.487G>A	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746320	0.69418	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000377288;ENST00000539822	T;T;T	0.47177	0.85;0.85;0.85	5.91	2.57	0.30868	Cadherin (3);Cadherin-like (1);	0.295967	0.36778	N	0.002420	T	0.54224	0.1845	M	0.85859	2.78	0.52099	D	0.999941	D;D;D	0.58268	0.969;0.982;0.969	B;P;B	0.46299	0.313;0.511;0.313	T	0.61969	-0.6953	10	0.62326	D	0.03	-26.1551	10.1466	0.42767	0.0:0.7413:0.1173:0.1413	.	163;153;163	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	M	163;153;163;163	ENSP00000366513:V163M;ENSP00000354997:V153M;ENSP00000366502:V163M	ENSP00000354997:V153M	V	-	1	0	CLSTN1	9734280	0.995000	0.38212	0.698000	0.30274	0.922000	0.55478	3.293000	0.51779	0.820000	0.34516	0.655000	0.94253	GTG		0.507	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			12	26	0	0	0	1	0	12	26					T	9811693	C	T	9811693	3	4	48	1	0	0	0	0	1	0	0	0	3563	536	19	1	2518	1	CLSTN1	1	9811693	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	487082	9811693	239438928	14	4482										
KIF1B	23095	broad.mit.edu	37	chr1	10318596	10318596	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaaccgtgtgtacaatgacAttggcaaggaaatgctctta	9	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:10318596A>C	ENST00000377086.1	+	4	431	c.229A>C	c.(229-231)Att>Ctt	p.I77L	KIF1B_ENST00000377093.4_Missense_Mutation_p.I77L|KIF1B_ENST00000377083.1_Missense_Mutation_p.I77L|KIF1B_ENST00000377081.1_Missense_Mutation_p.I77L|KIF1B_ENST00000263934.6_Missense_Mutation_p.I77L			O60333	KIF1B_HUMAN	kinesin family member 1B	77	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)			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)		GTACAATGACATTGGCAAGGA	0.373																																						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.(229-231)Att>Ctt		kinesin family member 1B							157	147	150					1																	10318596		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.chr1:10318596A>C	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.229A>C	1.37:g.10318596A>C	ENSP00000366290:p.Ile77Leu		Somatic				KIF1B_ENST00000263934.6_Missense_Mutation_p.I77L|KIF1B_ENST00000377081.1_Missense_Mutation_p.I77L|KIF1B_ENST00000377083.1_Missense_Mutation_p.I77L|KIF1B_ENST00000377093.4_Missense_Mutation_p.I77L	p.I77L			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)	4	431	+	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)	77			Kinesin-motor.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.229A>C		.	.	.	.	.	.	.	.	.	.	A	17.06	3.292431	0.59976	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24	5.5	5.5	0.81552	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.85066	0.5612	N	0.05351	-0.065	0.80722	D	1	B;B;P;B;B;B;B	0.42961	0.002;0.004;0.795;0.025;0.004;0.008;0.003	P;B;D;P;B;B;B	0.78314	0.481;0.192;0.991;0.717;0.135;0.309;0.168	T	0.79945	-0.1589	10	0.02654	T	1	.	15.6166	0.76773	1.0:0.0:0.0:0.0	.	77;77;77;77;77;77;77	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	L	77	ENSP00000263934:I77L;ENSP00000366297:I77L;ENSP00000366290:I77L;ENSP00000366287:I77L;ENSP00000366284:I77L	ENSP00000263934:I77L	I	+	1	0	KIF1B	10241183	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.253000	0.95501	2.090000	0.63153	0.377000	0.23210	ATT		0.373	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			5	74	0	0	0	1	0	5	74					C	10318596	A	C	10318596	3	2	48	1	0	0	0	0	1	0	0	0	8293	217	8	4	239	4	KIF1B	1	10318596	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	506903	10318596	238932025	15	4483										
UBIAD1	29914	broad.mit.edu	37	chr1	11346072	11346072	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctcccttgagagacagtttCgaagccaggccttcaacaaa	8	12	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:11346072C>T	ENST00000376810.5	+	2	1227	c.901C>T	c.(901-903)Cga>Tga	p.R301*	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	301					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GAGACAGTTTCGAAGCCAGGC	0.567																																						ENST00000376810.5																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12						c.(901-903)Cga>Tga		UbiA prenyltransferase domain containing 1							143	130	134					1																	11346072		2203	4300	6503	SO:0001587	stop_gained	29914				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	g.chr1:11346072C>T		CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"transitional epithelia response protein"	611632	"Schnyder crystalline corneal dystrophy"	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.901C>T	1.37:g.11346072C>T	ENSP00000366006:p.Arg301*		Somatic				UBIAD1_ENST00000376804.2_Intron	p.R301*	NM_013319.2	NP_037451.1	WXS	Illumina GAIIx	Phase_I	Q9Y5Z9	UBIA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)	2	1227	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	301					B3KQG3|Q53GX3|Q5THD4	Nonsense_Mutation	SNP	ENST00000376810.5	37	c.901C>T	CCDS129.1	.	.	.	.	.	.	.	.	.	.	C	38	7.192777	0.98125	.	.	ENSG00000120942	ENST00000376810	.	.	.	6.07	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.071	10.5971	0.45345	0.2028:0.7261:0.0:0.071	.	.	.	.	X	301	.	ENSP00000366006:R301X	R	+	1	2	UBIAD1	11268659	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.120000	0.41968	1.582000	0.49881	0.585000	0.79938	CGA		0.567	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319		59	123	0	0	0	1	0	59	123					T	11346072	C	T	11346072	4	4	48	1	0	0	0	0	0	1	0	0	16900	876	31	1	907	1	UBIAD1	1	11346072	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1027476	11346072	237904549	16	4484										
MAD2L2	10459	broad.mit.edu	37	chr1	11735151	11735151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagctcacctttaaaatgtcCgacgtcatggtttttagtgg	9	8	2	0	rs141637184		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:11735151C>T	ENST00000235310.3	-	10	1510	c.582G>A	c.(580-582)tcG>tcA	p.S194S	MAD2L2_ENST00000376669.5_Silent_p.S207S|MAD2L2_ENST00000376672.1_Silent_p.S207S|MAD2L2_ENST00000376692.4_Silent_p.S194S|MAD2L2_ENST00000376667.3_Silent_p.S194S			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	194	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.|Mediates interaction with ipaB.				actin filament organization (GO:0007015)|DNA damage response, signal transduction resulting in transcription (GO:0042772)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|zeta DNA polymerase complex (GO:0016035)	JUN kinase binding (GO:0008432)|RNA polymerase II activating transcription factor binding (GO:0001102)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTAAAATGTCCGACGTCATGG	0.552								DNA polymerases (catalytic subunits)					C|||	1	0.000199681	0	0.0014	5008	,	,		17596	0		0	False		,,,				2504	0					ENST00000235310.3																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(580-582)tcG>tcA	DNA polymerases (catalytic subunits)	MAD2 mitotic arrest deficient-like 2 (yeast)		C	,	26,4380	33.5+/-64.1	0,26,2177	70	77	75		582,582	-2.6	0.8	1	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MAD2L2	NM_001127325.1,NM_006341.3	,	0,27,6476	TT,TC,CC		0.0116,0.5901,0.2076	,	194/212,194/212	11735151	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	10459				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding	g.chr1:11735151C>T	AF139365	CCDS134.1	1p36	2013-01-17	2001-11-28		ENSG00000116670	ENSG00000116670		"DNA polymerases"	6764	protein-coding gene	gene with protein product	"mitotic arrest deficient homolog-like 2", "polymerase (DNA-directed), zeta 2, accessory subunit"	604094	"MAD2 (mitotic arrest deficient, yeast, homolog)-like 2"			10366450	Standard	NM_006341		Approved	MAD2B, REV7, POLZ2	uc009vnc.3	Q9UI95	OTTHUMG00000002231	ENST00000235310.3:c.582G>A	1.37:g.11735151C>T			Somatic				MAD2L2_ENST00000376669.5_Silent_p.S207S|MAD2L2_ENST00000376672.1_Silent_p.S207S|MAD2L2_ENST00000376667.3_Silent_p.S194S|MAD2L2_ENST00000376692.4_Silent_p.S194S	p.S194S			WXS	Illumina GAIIx	Phase_I	Q9UI95	MD2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	10	1510	-	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)	194			HORMA.|Mediates interaction with ipaB.		B3KNE3|Q5TGW7|Q9UNA7|Q9Y6I6	Silent	SNP	ENST00000235310.3	37	c.582G>A	CCDS134.1																																																																																				0.552	MAD2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006344.2	NM_006341		11	45	0	0	0	1	0	11	45					T	11735151	C	T	11735151	2	4	48	1	0	0	0	0	0	0	0	1	9159	639	23	1		1	MAD2L2	1	11735151	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	389079	11735151	237515470	17	4485										
CLCN6	1185	broad.mit.edu	37	chr1	11888619	11888619	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgggagccacattcaactgTctgaacaagaggcttgcaaa	10	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:11888619T>C	ENST00000346436.6	+	12	1111	c.1059T>C	c.(1057-1059)tgT>tgC	p.C353C	CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376496.3_Silent_p.C353C|CLCN6_ENST00000376487.3_Silent_p.C331C	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	353					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)		CATTCAACTGTCTGAACAAGA	0.542																																						ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(1057-1059)tgT>tgC		chloride channel, voltage-sensitive 6							177	188	184					1																	11888619		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.chr1:11888619T>C	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.1059T>C	1.37:g.11888619T>C			Somatic				CLCN6_ENST00000376496.3_Silent_p.C353C|CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376487.3_Silent_p.C331C|CLCN6_ENST00000376492.3_Intron	p.C353C	NM_001286.3	NP_001277.1	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	1111	+	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)	353					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	ENST00000346436.6	37	c.1059T>C	CCDS138.1																																																																																				0.542	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		101	189	0	0	0	1	0	101	189					C	11888619	T	C	11888619	2	2	48	1	0	0	0	0	0	0	0	1	3469	1673	58	4		4	CLCN6	1	11888619	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	153468	11888619	237362002	18	4486										
VPS13D	55187	broad.mit.edu	37	chr1	12337274	12337274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taatgtctcaatgggtagcaCgtttgacatgaatggttctc	10	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:12337274C>T	ENST00000358136.3	+	19	3759	c.3629C>T	c.(3628-3630)aCg>aTg	p.T1210M	VPS13D_ENST00000356315.4_Missense_Mutation_p.T1210M	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)		ATGGGTAGCACGTTTGACATG	0.413																																						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.(3628-3630)aCg>aTg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							157	138	145					1																	12337274		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12337274C>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.3629C>T	1.37:g.12337274C>T	ENSP00000350854:p.Thr1210Met		Somatic				VPS13D_ENST00000356315.4_Missense_Mutation_p.T1210M	p.T1210M	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	3759	+	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)	1210						Missense_Mutation	SNP	ENST00000358136.3	37	c.3629C>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.007|4.007	-0.001373|-0.001373	0.07819|0.07819	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.52295	.|0.67;0.67	5.91|5.91	0.63|0.63	0.17693|0.17693	.|.	.|0.314316	.|0.30538	.|N	.|0.009415	T|T	0.20129|0.20129	0.0484|0.0484	N|N	0.08118|0.08118	0|0	0.29386|0.29386	N|N	0.862969|0.862969	.|P;P	.|0.45126	.|0.851;0.768	.|B;B	.|0.40534	.|0.332;0.178	T|T	0.16837|0.16837	-1.0389|-1.0389	5|10	.|0.51188	.|T	.|0.08	.|.	0.7479|0.7479	0.00985|0.00985	0.2207:0.3603:0.2015:0.2175|0.2207:0.3603:0.2015:0.2175	.|.	.|1210;1210	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	C|M	33|1210	.|ENSP00000348666:T1210M;ENSP00000350854:T1210M	.|ENSP00000348666:T1210M	R|T	+|+	1|2	0|0	VPS13D|VPS13D	12259861|12259861	0.261000|0.261000	0.24063|0.24063	0.076000|0.076000	0.20297|0.20297	0.577000|0.577000	0.36160|0.36160	1.086000|1.086000	0.30853|0.30853	0.123000|0.123000	0.18342|0.18342	-0.137000|-0.137000	0.14449|0.14449	CGT|ACG		0.413	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		23	110	0	0	0	1	0	23	110					T	12337274	C	T	12337274	3	4	48	1	0	0	0	0	1	0	0	0	17207	536	19	1	3699	1	VPS13D	1	12337274	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	448655	12337274	236913347	19	4487										
VPS13D	55187	broad.mit.edu	37	chr1	12414216	12414216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggaatgccaattaatgggaCgctgaaacctggcaaggagg	14	7	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:12414216C>T	ENST00000358136.3	+	47	9747	c.9617C>T	c.(9616-9618)aCg>aTg	p.T3206M	VPS13D_ENST00000356315.4_Missense_Mutation_p.T3181M	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)		ATTAATGGGACGCTGAAACCT	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.(9616-9618)aCg>aTg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							93	93	93					1																	12414216		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12414216C>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.9617C>T	1.37:g.12414216C>T	ENSP00000350854:p.Thr3206Met		Somatic				VPS13D_ENST00000356315.4_Missense_Mutation_p.T3181M	p.T3206M	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)	47	9747	+	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)	3205						Missense_Mutation	SNP	ENST00000358136.3	37	c.9617C>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.713762|4.713762	0.89112|0.89112	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.56103	.|0.48;0.48	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.098992	.|0.64402	.|D	.|0.000002	T|T	0.66187|0.66187	0.2764|0.2764	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.998	.|P;P	.|0.61132	.|0.884;0.769	T|T	0.63550|0.63550	-0.6612|-0.6612	5|10	.|0.52906	.|T	.|0.07	.|.	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3181;3205	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	C|M	2028|3181;3206	.|ENSP00000348666:T3181M;ENSP00000350854:T3206M	.|ENSP00000348666:T3181M	R|T	+|+	1|2	0|0	VPS13D|VPS13D	12336803|12336803	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.918000|0.918000	0.54935|0.54935	5.723000|5.723000	0.68492|0.68492	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CGC|ACG		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		32	40	0	0	0	1	0	32	40					T	12414216	C	T	12414216	3	4	48	1	0	0	0	0	1	0	0	0	17207	536	19	1	9799	1	VPS13D	1	12414216	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	76942	12414216	236836405	20	4488										
PRAMEF2	65122	broad.mit.edu	37	chr1	12921510	12921510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagatcttcaccccacttcGggctgagctgatgtgtacac	11	12	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:12921510G>A	ENST00000240189.2	+	4	1388	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	434					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.R434L(1)		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)		ACCCCACTTCGGGCTGAGCTG	0.552																																						ENST00000240189.2																			1	Substitution - Missense(1)	p.R434L(1)	kidney(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(1300-1302)cGg>cAg		PRAME family member 2							60	71	67					1																	12921510		2171	4269	6440	SO:0001583	missense	65122							g.chr1:12921510G>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.1301G>A	1.37:g.12921510G>A	ENSP00000240189:p.Arg434Gln		Somatic					p.R434Q	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	1388	+	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)	434						Missense_Mutation	SNP	ENST00000240189.2	37	c.1301G>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	G	1.877	-0.458820	0.04508	.	.	ENSG00000120952	ENST00000240189	T	0.39229	1.09	0.824	-0.326	0.12698	.	1.015480	0.07922	N	0.976068	T	0.21347	0.0514	N	0.14661	0.345	0.09310	N	1	B	0.19583	0.037	B	0.14578	0.011	T	0.21381	-1.0247	10	0.25751	T	0.34	.	3.3454	0.07133	0.3379:0.0:0.6621:0.0	.	434	O60811	PRAM2_HUMAN	Q	434	ENSP00000240189:R434Q	ENSP00000240189:R434Q	R	+	2	0	PRAMEF2	12844097	0.000000	0.05858	0.013000	0.15412	0.017000	0.09413	-0.844000	0.04345	-0.119000	0.11830	0.173000	0.16961	CGG		0.552	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		72	61	0	0	0	1	0	72	61					A	12921510	G	A	12921510	3	1	48	1	0	0	0	0	1	0	0	0	12447	1116	39	1	1311	1	PRAMEF2	1	12921510	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	507294	12921510	236329111	21	4489										
PRDM2	7799	broad.mit.edu	37	chr1	14106775	14106775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccactggatttatccagcGgtgtcaaacagaaggctgag	12	9	1	2	rs578232905		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:14106775G>A	ENST00000235372.7	+	8	3341	c.2485G>A	c.(2485-2487)Ggt>Agt	p.G829S	PRDM2_ENST00000413440.1_Missense_Mutation_p.G628S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.G829S|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.G628S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	829					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)		TTTATCCAGCGGTGTCAAACA	0.463													G|||	1	0.000199681	0	0.0014	5008	,	,		21468	0		0	False		,,,				2504	0					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.(2485-2487)Ggt>Agt		PR domain containing 2, with ZNF domain							72	69	70					1																	14106775		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.chr1:14106775G>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.2485G>A	1.37:g.14106775G>A	ENSP00000235372:p.Gly829Ser		Somatic				PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.G628S|PRDM2_ENST00000413440.1_Missense_Mutation_p.G628S|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.G829S	p.G829S	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	3341	+	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)	829					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.2485G>A	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861742	0.32884	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01279	5.16;5.06;5.08;5.08	5.91	5.91	0.95273	.	0.117084	0.64402	D	0.000009	T	0.02649	0.0080	L	0.43757	1.38	0.53688	D	0.999977	D;D;D;D	0.58268	0.969;0.961;0.961;0.982	B;B;P;P	0.49276	0.401;0.245;0.526;0.605	T	0.57763	-0.7755	10	0.05436	T	0.98	.	18.8623	0.92278	0.0:0.0:1.0:0.0	.	829;687;829;829	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	S	829;829;829;628;628	ENSP00000235372:G829S;ENSP00000312352:G829S;ENSP00000411103:G628S;ENSP00000341621:G628S	ENSP00000235372:G829S	G	+	1	0	PRDM2	13979362	1.000000	0.71417	0.465000	0.27155	0.988000	0.76386	4.792000	0.62467	2.793000	0.96121	0.655000	0.94253	GGT		0.463	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		21	60	0	0	0	1	0	21	60					A	14106775	G	A	14106775	3	1	48	1	0	0	0	0	1	0	0	0	12470	1116	39	1	2511	1	PRDM2	1	14106775	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1185265	14106775	235143846	22	4490										
CELA2A	63036	broad.mit.edu	37	chr1	15789927	15789927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctaaccccgtctccctcaccGacaagatccagctggcctgc	7	19	2	1	rs140151330	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:15789927G>A	ENST00000359621.4	+	5	428	c.403G>A	c.(403-405)Gac>Aac	p.D135N		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	135	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CTCCCTCACCGACAAGATCCA	0.602													G|||	8	0.00159744	0.0061	0	5008	,	,		19580	0		0	False		,,,				2504	0					ENST00000359621.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						c.(403-405)Gac>Aac		chymotrypsin-like elastase family, member 2A		G	ASN/ASP	4,4402	8.1+/-20.4	0,4,2199	164	124	138		403	-1.4	0	1	dbSNP_134	138	0,8594		0,0,4297	no	missense	CELA2A	NM_033440.2	23	0,4,6496	AA,AG,GG		0.0,0.0908,0.0308	benign	135/270	15789927	4,12996	2203	4297	6500	SO:0001583	missense	63036				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15789927G>A		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"elastase 2A"	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.403G>A	1.37:g.15789927G>A	ENSP00000352639:p.Asp135Asn		Somatic					p.D135N	NM_033440.2	NP_254275.1	WXS	Illumina GAIIx	Phase_I	P08217	CEL2A_HUMAN			5	428	+			135			Peptidase S1.		B2R5I4|Q14243	Missense_Mutation	SNP	ENST00000359621.4	37	c.403G>A	CCDS157.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	8.857	0.946037	0.18356	9.08E-4	0.0	ENSG00000142615	ENST00000359621	D	0.93426	-3.22	3.97	-1.39	0.08997	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.551980	0.16437	U	0.214467	D	0.83949	0.5365	N	0.25060	0.705	0.09310	N	1	B	0.18166	0.026	B	0.17979	0.02	T	0.71009	-0.4716	10	0.36615	T	0.2	.	4.5887	0.12295	0.3509:0.1643:0.4848:0.0	.	135	P08217	CEL2A_HUMAN	N	135	ENSP00000352639:D135N	ENSP00000352639:D135N	D	+	1	0	CELA2A	15662514	0.000000	0.05858	0.003000	0.11579	0.386000	0.30323	0.421000	0.21280	-0.356000	0.08187	-0.657000	0.03884	GAC		0.602	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		38	94	0	0	0	1	0	38	94					A	15789927	G	A	15789927	3	1	48	1	0	0	0	0	1	0	0	0	3213	1058	37	1	421	1	CELA2A	1	15789927	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1683152	15789927	233460694	23	4491										
RSC1A1	6248	broad.mit.edu	37	chr1	15987116	15987116	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagaaacatttatggaaatCgatacagctcaacagtccct	6	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:15987116C>T	ENST00000345034.1	+	1	753	c.753C>T	c.(751-753)atC>atT	p.I251I	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	251					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)		TTATGGAAATCGATACAGCTC	0.418																																						ENST00000345034.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(751-753)atC>atT		regulatory solute carrier protein, family 1, member 1							74	73	73					1																	15987116		2203	4300	6503	SO:0001819	synonymous_variant	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15987116C>T	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.753C>T	1.37:g.15987116C>T			Somatic				DDI2_ENST00000480945.1_3'UTR	p.I251I	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	753	+		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)	251					B2RBP5	Silent	SNP	ENST00000345034.1	37	c.753C>T	CCDS161.1																																																																																				0.418	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		18	54	0	0	0	1	0	18	54					T	15987116	C	T	15987116	2	4	48	1	0	0	0	0	0	0	0	1	13713	874	31	1		1	RSC1A1	1	15987116	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	197189	15987116	233263505	24	4492										
RSC1A1	6248	broad.mit.edu	37	chr1	15987291	15987291	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attccatttccactcaggatTtacagcccccagaaactaat	4	13	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:15987291T>G	ENST00000345034.1	+	1	928	c.928T>G	c.(928-930)Tta>Gta	p.L310V	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	310					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)		CACTCAGGATTTACAGCCCCC	0.393																																						ENST00000345034.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(928-930)Tta>Gta		regulatory solute carrier protein, family 1, member 1							70	70	70					1																	15987291		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.chr1:15987291T>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.928T>G	1.37:g.15987291T>G	ENSP00000341963:p.Leu310Val		Somatic				DDI2_ENST00000480945.1_3'UTR	p.L310V	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	928	+		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)	310					B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	c.928T>G	CCDS161.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.581910	0.28180	.	.	ENSG00000215695	ENST00000345034	T	0.27557	1.66	5.61	3.23	0.37069	.	0.962599	0.08514	N	0.934443	T	0.21468	0.0517	L	0.29908	0.895	0.25809	N	0.984411	B	0.23377	0.084	B	0.20767	0.031	T	0.30592	-0.9973	10	0.30078	T	0.28	-11.8213	5.4631	0.16627	0.0:0.0943:0.3357:0.57	.	310	Q92681	RSCA1_HUMAN	V	310	ENSP00000341963:L310V	ENSP00000341963:L310V	L	+	1	2	RSC1A1	15859878	0.990000	0.36364	0.998000	0.56505	0.289000	0.27227	1.649000	0.37281	0.388000	0.25054	0.459000	0.35465	TTA		0.393	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		31	30	0	0	0	1	0	31	30					G	15987291	T	G	15987291	3	3	48	1	0	0	0	0	1	0	0	0	13713	1838	64	4	930	4	RSC1A1	1	15987291	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	175	15987291	233263330	25	4493										
C1orf144	26099	broad.mit.edu	37	chr1	16719767	16719767	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtgcccattgtgattcaggAcgatagccttcccgcggggc	13	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:16719767A>G	ENST00000401088.4	+	3	321	c.146A>G	c.(145-147)gAc>gGc	p.D49G	SZRD1_ENST00000375590.3_Missense_Mutation_p.D29G|SZRD1_ENST00000401089.3_Missense_Mutation_p.D30G|SZRD1_ENST00000471507.1_Missense_Mutation_p.D48G|SPATA21_ENST00000466212.1_5'Flank|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000492354.1_Missense_Mutation_p.D29G	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1	Q7Z422	SZRD1_HUMAN	SUZ RNA binding domain containing 1	49	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.																GTGATTCAGGACGATAGCCTT	0.577																																						ENST00000401088.4																			0											c.(145-147)gAc>gGc		SUZ RNA binding domain containing 1							102	107	105					1																	16719767		2015	4161	6176	SO:0001583	missense	26099							g.chr1:16719767A>G	BC010631	CCDS44065.1, CCDS60000.1	1p36.13	2012-07-23	2012-07-23	2012-07-23	ENSG00000055070	ENSG00000055070			30232	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 144"	C1orf144		12761501	Standard	NM_001114600		Approved	DKFZp566C0424	uc001aym.5	Q7Z422	OTTHUMG00000002217	ENST00000401088.4:c.146A>G	1.37:g.16719767A>G	ENSP00000383866:p.Asp49Gly		Somatic				SZRD1_ENST00000471507.1_Missense_Mutation_p.D48G|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000401089.3_Missense_Mutation_p.D30G|SZRD1_ENST00000492354.1_Missense_Mutation_p.D29G|SZRD1_ENST00000375590.3_Missense_Mutation_p.D29G	p.D49G	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1	WXS	Illumina GAIIx	Phase_I					3	321	+								A8MXJ2|C9K0U0|Q7Z424|Q8IVM2|Q8TBV3|Q9Y403	Missense_Mutation	SNP	ENST00000401088.4	37	c.146A>G	CCDS44065.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.790450	0.90367	.	.	ENSG00000055070	ENST00000401088;ENST00000471507;ENST00000401089;ENST00000434120;ENST00000375590;ENST00000492354	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.77598	0.4154	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;0.98;1.0;0.998	D;D;D;D	0.87578	0.998;0.977;0.998;0.995	T	0.80625	-0.1299	9	0.87932	D	0	-19.6005	14.1987	0.65688	1.0:0.0:0.0:0.0	.	29;49;29;30	F8WEE8;Q7Z422;Q7Z422-2;Q7Z422-4	.;CA144_HUMAN;.;.	G	49;48;30;49;29;29	.	ENSP00000364740:D29G	D	+	2	0	C1orf144	16592354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.347000	0.90062	2.007000	0.58848	0.459000	0.35465	GAC		0.577	SZRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006283.2	NM_015609		20	139	0	0	0	1	0	20	139					G	16719767	A	G	16719767	3	3	48	1	0	0	0	0	1	0	0	0	2004	275	10	4	156	4	C1orf144	1	16719767	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	732476	16719767	232530854	26	4494										
NBPF1	55672	broad.mit.edu	37	chr1	16892261	16892261	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctatccagtgagtcctgcaaGacttcaggctctactgcctc	8	14	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:16892261G>T	ENST00000430580.2	-	27	3818	c.2931C>A	c.(2929-2931)gtC>gtA	p.V977V		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	977	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTCCTGCAAGACTTCAGGCT	0.498																																						ENST00000430580.2																			0											c.(2929-2931)gtC>gtA		neuroblastoma breakpoint family, member 1							23	19	20					1																	16892261		1492	2616	4108	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16892261G>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.2931C>A	1.37:g.16892261G>T			Somatic					p.V977V	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)	27	3818	-			977			NBPF 6.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.2931C>A																																																																																					0.498	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		8	740	1	0	7.48243e-07	1	8.49459e-07	8	740					T	16892261	G	T	16892261	2	4	48	1	0	0	0	0	0	0	0	1	10201	929	33	2		2	NBPF1	1	16892261	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	172494	16892261	232358360	27	4495										
NBPF1	55672	broad.mit.edu	37	chr1	16918352	16918352	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagatcttactgtatttcttCtgtcggttggccaggaagcc	10	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:16918352C>A	ENST00000430580.2	-	7	1052	c.165G>T	c.(163-165)caG>caT	p.Q55H		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	55						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)		TGTATTTCTTCTGTCGGTTGG	0.433																																						ENST00000430580.2																			0											c.(163-165)caG>caT		neuroblastoma breakpoint family, member 1							221	225	223					1																	16918352		2198	4293	6491	SO:0001583	missense	55672					cytoplasm		g.chr1:16918352C>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.165G>T	1.37:g.16918352C>A	ENSP00000474456:p.Gln55His		Somatic					p.Q55H	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)	7	1052	-			55					Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.165G>T																																																																																					0.433	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		27	642	1	0	3.93418e-24	1	5.51393e-24	27	642					A	16918352	C	A	16918352	3	1	48	1	0	0	0	0	1	0	0	0	10201	912	32	2	3351	2	NBPF1	1	16918352	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	26091	16918352	232332269	28	4496										
PADI1	29943	broad.mit.edu	37	chr1	17567222	17567222	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccccagctcttcttcctgaaAaacttctacgcggaagcctt	6	15	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:17567222A>C	ENST00000375471.4	+	15	1817	c.1725A>C	c.(1723-1725)aaA>aaC	p.K575N	PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Intron|PADI1_ENST00000536552.1_Missense_Mutation_p.K46N|PADI1_ENST00000537499.1_Missense_Mutation_p.K132N	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	575					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)	TCTTCCTGAAAAACTTCTACG	0.577																																					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.(1723-1725)aaA>aaC		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)						112	109	110					1																	17567222		2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17567222A>C	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.1725A>C	1.37:g.17567222A>C	ENSP00000364620:p.Lys575Asn		Somatic				PADI1_ENST00000413717.2_Intron|PADI1_ENST00000537499.1_Missense_Mutation_p.K132N|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000536552.1_Missense_Mutation_p.K46N	p.K575N	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)	15	1817	+		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)	575					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.1725A>C	CCDS178.1	.	.	.	.	.	.	.	.	.	.	A	2.070	-0.413236	0.04799	.	.	ENSG00000142623	ENST00000375471;ENST00000537499;ENST00000536552	T;T;T	0.23348	1.91;1.91;1.91	3.91	-0.398	0.12418	Protein-arginine deiminase, C-terminal (1);	1.448820	0.03834	N	0.269551	T	0.20129	0.0484	L	0.39898	1.24	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.29305	-1.0016	10	0.48119	T	0.1	-9.5816	2.9529	0.05867	0.0936:0.257:0.4039:0.2454	.	575	Q9ULC6	PADI1_HUMAN	N	575;132;46	ENSP00000364620:K575N;ENSP00000444032:K132N;ENSP00000444833:K46N	ENSP00000364620:K575N	K	+	3	2	PADI1	17439809	0.000000	0.05858	0.007000	0.13788	0.000000	0.00434	-2.081000	0.01367	0.332000	0.23536	-1.223000	0.01593	AAA		0.577	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		52	75	0	0	0	1	0	52	75					C	17567222	A	C	17567222	3	2	48	1	0	0	0	0	1	0	0	0	11386	11	1	4	1783	4	PADI1	1	17567222	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	648870	17567222	231683399	29	4497										
RCC2	55920	broad.mit.edu	37	chr1	17740182	17740182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catagccaccaaagccccagGagaagactcgcttctgggag	11	13	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:17740182G>T	ENST00000375436.4	-	9	1245	c.1058C>A	c.(1057-1059)tCc>tAc	p.S353Y	AC004824.1_ENST00000583469.1_RNA|RCC2_ENST00000375433.3_Missense_Mutation_p.S353Y	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	353					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AAAGCCCCAGGAGAAGACTCG	0.577																																						ENST00000375436.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17						c.(1057-1059)tCc>tAc		regulator of chromosome condensation 2							61	69	66					1																	17740182		2203	4300	6503	SO:0001583	missense	55920				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		g.chr1:17740182G>T		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.1058C>A	1.37:g.17740182G>T	ENSP00000364585:p.Ser353Tyr		Somatic				AC004824.1_ENST00000583469.1_RNA|RCC2_ENST00000375433.3_Missense_Mutation_p.S353Y	p.S353Y	NM_018715.3	NP_061185.1	WXS	Illumina GAIIx	Phase_I	Q9P258	RCC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	9	1245	-		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	353					Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	c.1058C>A	CCDS181.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736198	0.89482	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.87809	-2.3;-2.3	5.3	5.3	0.74995	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.097854	0.64402	D	0.000001	D	0.94978	0.8375	M	0.91972	3.26	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95761	0.8800	10	0.87932	D	0	-30.1277	17.8814	0.88841	0.0:0.0:1.0:0.0	.	353	Q9P258	RCC2_HUMAN	Y	353	ENSP00000364585:S353Y;ENSP00000364582:S353Y	ENSP00000364582:S353Y	S	-	2	0	RCC2	17612769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.274000	0.72587	2.630000	0.89119	0.655000	0.94253	TCC		0.577	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		10	121	1	0	4.68919e-08	1	5.48405e-08	10	121					T	17740182	G	T	17740182	3	4	48	1	0	0	0	0	1	0	0	0	13189	1174	41	2	530	2	RCC2	1	17740182	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	172960	17740182	231510439	30	4498										
ARHGEF10L	55160	broad.mit.edu	37	chr1	17961057	17961057	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcccaggcctgccaaccacaGgtacgtggttcagggggctc	13	14	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:17961057G>T	ENST00000361221.3	+	17	1904	c.1745G>T	c.(1744-1746)aGg>aTg	p.R582M	ARHGEF10L_ENST00000375415.1_Splice_Site_p.R543M|ARHGEF10L_ENST00000375408.3_Intron|ARHGEF10L_ENST00000452522.1_Splice_Site_p.R543M|ARHGEF10L_ENST00000469726.1_Intron|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000375420.3_Splice_Site_p.R340M|ARHGEF10L_ENST00000434513.1_Intron	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	582						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)		GCCAACCACAGGTACGTGGTT	0.622																																						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.e17+1		Rho guanine nucleotide exchange factor (GEF) 10-like							84	87	86					1																	17961057		2203	4300	6503	SO:0001630	splice_region_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17961057G>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.1745+1G>T	1.37:g.17961057G>T			Somatic				ARHGEF10L_ENST00000375420.3_Splice_Site_p.R340_splice|ARHGEF10L_ENST00000469726.1_Intron|ARHGEF10L_ENST00000375415.1_Splice_Site_p.R543_splice|ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000452522.1_Splice_Site_p.R543_splice|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000375408.3_Intron	p.R582_splice	NM_018125.3	NP_060595.3	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)	17	1904	+		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)	582					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Splice_Site	SNP	ENST00000361221.3	37	c.1745_splice	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282818	0.40394	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375420	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.1	5.1	0.69264	Pleckstrin homology-type (1);	0.177293	0.48767	D	0.000169	T	0.34337	0.0894	L	0.47716	1.5	0.80722	D	1	D;D;D	0.60575	0.972;0.985;0.988	D;P;P	0.69142	0.962;0.773;0.758	T	0.01639	-1.1306	10	0.52906	T	0.07	-14.8049	15.6158	0.76767	0.0:0.0:1.0:0.0	.	340;543;582	B4DTE2;Q9HCE6-2;Q9HCE6	.;.;ARGAL_HUMAN	M	582;543;543;340	ENSP00000355060:R582M;ENSP00000399401:R543M;ENSP00000364564:R543M;ENSP00000364569:R340M	ENSP00000355060:R582M	R	+	2	0	ARHGEF10L	17833644	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	5.317000	0.65822	2.534000	0.85438	0.655000	0.94253	AGG		0.622	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125	Missense_Mutation	9	100	1	0	0.00448238	1	0.00465112	9	100					T	17961057	G	T	17961057	5	4	48	1	0	0	0	0	0	0	1	0	895	1014	35	5	1807	5	ARHGEF10L	1	17961057	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	220875	17961057	231289564	31	4499										
UBR4	23352	broad.mit.edu	37	chr1	19470546	19470546	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttcctgggccttaggactcGaattagagcttgtttacaag	11	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:19470546G>A	ENST00000375254.3	-	55	8134	c.8107C>T	c.(8107-8109)Cga>Tga	p.R2703*	UBR4_ENST00000375217.2_Nonsense_Mutation_p.R2731*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.R2714*|UBR4_ENST00000375267.2_Nonsense_Mutation_p.R2703*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2703					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)		CTTAGGACTCGAATTAGAGCT	0.438																																						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.(8107-8109)Cga>Tga		ubiquitin protein ligase E3 component n-recognin 4							191	172	178					1																	19470546		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.chr1:19470546G>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.8107C>T	1.37:g.19470546G>A	ENSP00000364403:p.Arg2703*		Somatic				UBR4_ENST00000375226.2_Nonsense_Mutation_p.R2714*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.R2731*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.R2703*	p.R2703*			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)	55	8110	-		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)	2703					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.8107C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	43	9.843730	0.99277	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1123	0.72368	0.0:0.0:0.85:0.15	.	.	.	.	X	2703;2703;2731;2714;346;1424	.	ENSP00000364365:R2731X	R	-	1	2	UBR4	19343133	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.272000	0.58908	2.798000	0.96311	0.655000	0.94253	CGA		0.438	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		37	69	0	0	0	1	0	37	69					A	19470546	G	A	19470546	4	1	48	1	0	0	0	0	0	1	0	0	16919	1066	37	1	7652	1	UBR4	1	19470546	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1509489	19470546	229780075	32	4500										
UBR4	23352	broad.mit.edu	37	chr1	19477235	19477235	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgctccttagtcttgccataAatttttacagcatctatcat	4	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:19477235A>C	ENST00000375254.3	-	49	7293	c.7266T>G	c.(7264-7266)atT>atG	p.I2422M	UBR4_ENST00000375217.2_Missense_Mutation_p.I2422M|UBR4_ENST00000375226.2_Missense_Mutation_p.I2422M|UBR4_ENST00000375267.2_Missense_Mutation_p.I2422M	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2422					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)	p.I2422I(1)		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)		TCTTGCCATAAATTTTTACAG	0.488																																						ENST00000375267.2																			1	Substitution - coding silent(1)	p.I2422I(1)	urinary_tract(1)	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.(7264-7266)atT>atG		ubiquitin protein ligase E3 component n-recognin 4							182	188	186					1																	19477235		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.chr1:19477235A>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.7266T>G	1.37:g.19477235A>C	ENSP00000364403:p.Ile2422Met		Somatic				UBR4_ENST00000375226.2_Missense_Mutation_p.I2422M|UBR4_ENST00000375217.2_Missense_Mutation_p.I2422M|UBR4_ENST00000375254.3_Missense_Mutation_p.I2422M	p.I2422M			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	7269	-		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)	2422					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.7266T>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.873676	0.72180	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.29655	1.56;1.56;1.57;1.56	6.05	4.87	0.63330	.	0.052900	0.85682	D	0.000000	T	0.27169	0.0666	L	0.58810	1.83	0.80722	D	1	P	0.37015	0.578	B	0.31337	0.128	T	0.07195	-1.0785	10	0.87932	D	0	.	8.6376	0.33957	0.8444:0.0:0.1556:0.0	.	2422	Q5T4S7	UBR4_HUMAN	M	2422;2422;2422;2422;37;1132	ENSP00000364403:I2422M;ENSP00000364416:I2422M;ENSP00000364365:I2422M;ENSP00000364374:I2422M	ENSP00000364365:I2422M	I	-	3	3	UBR4	19349822	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.594000	0.24014	1.035000	0.39972	0.528000	0.53228	ATT		0.488	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		115	210	0	0	0	1	0	115	210					C	19477235	A	C	19477235	3	2	48	1	0	0	0	0	1	0	0	0	16919	10	1	4	8517	4	UBR4	1	19477235	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	6689	19477235	229773386	33	4501										
EIF4G3	8672	broad.mit.edu	37	chr1	21212755	21212755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttttggcttggcttccagGcattttctgcctttttcagg	10	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:21212755G>A	ENST00000264211.8	-	13	2389	c.2195C>T	c.(2194-2196)gCc>gTc	p.A732V	EIF4G3_ENST00000537738.1_Missense_Mutation_p.A222V|EIF4G3_ENST00000374935.3_Missense_Mutation_p.A452V|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A336V|EIF4G3_ENST00000602326.1_Missense_Mutation_p.A738V|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A738V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A732V	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	732	eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGCTTCCAGGCATTTTCTGC	0.418																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(2212-2214)gCc>gTc		eukaryotic translation initiation factor 4 gamma, 3							265	255	259					1																	21212755		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21212755G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2195C>T	1.37:g.21212755G>A	ENSP00000264211:p.Ala732Val		Somatic				EIF4G3_ENST00000374935.3_Missense_Mutation_p.A452V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A732V|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A738V|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A336V|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A732V|EIF4G3_ENST00000537738.1_Missense_Mutation_p.A222V	p.A738V	NM_001198802.1	NP_001185731.1	WXS	Illumina GAIIx	Phase_I	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	17	2796	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	732			eIF3/EIF4A-binding (By similarity).		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.2213C>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	35	5.413527	0.96072	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.09538	3.42;3.42;3.27;2.97;3.41;3.1	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.36552	0.0971	M	0.79011	2.435	0.80722	D	1	D;D;D;D;P	0.76494	0.982;0.999;0.996;0.999;0.757	P;D;D;D;P	0.80764	0.697;0.945;0.99;0.994;0.566	T	0.09228	-1.0684	10	0.54805	T	0.06	-1.2075	19.1062	0.93296	0.0:0.0:1.0:0.0	.	927;452;336;738;732	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	V	732;928;732;452;222;738;336	ENSP00000264211:A732V;ENSP00000383274:A732V;ENSP00000364071:A452V;ENSP00000442010:A222V;ENSP00000364073:A738V;ENSP00000444693:A336V	ENSP00000264211:A732V	A	-	2	0	EIF4G3	21085342	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.420000	0.97426	2.571000	0.86741	0.655000	0.94253	GCC		0.418	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		15	152	0	0	0	1	0	15	152					A	21212755	G	A	21212755	3	1	48	1	0	0	0	0	1	0	0	0	5040	1203	42	3	2638	3	EIF4G3	1	21212755	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1735520	21212755	228037866	34	4502										
EPHA8	2046	broad.mit.edu	37	chr1	22919928	22919928	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcatcctggagtatgagatCaagtactacgagaaggtacc	10	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:22919928C>A	ENST00000166244.3	+	6	1497	c.1425C>A	c.(1423-1425)atC>atA	p.I475I		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	475	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		AGTATGAGATCAAGTACTACG	0.652																																						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.(1423-1425)atC>atA		EPH receptor A8							33	29	30					1																	22919928		2200	4299	6499	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22919928C>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1425C>A	1.37:g.22919928C>A			Somatic					p.I475I	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)	6	1497	+		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)	475			Fibronectin type-III 2.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.1425C>A	CCDS225.1																																																																																				0.652	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		12	5	1	0	0.00010058	1	0.000108553	12	5					A	22919928	C	A	22919928	2	1	48	1	0	0	0	0	0	0	0	1	5175	816	29	2		2	EPHA8	1	22919928	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1707173	22919928	226330693	35	4503										
EPHB2	2048	broad.mit.edu	37	chr1	23219473	23219473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccatctatgtcttccaggtgCgggcacgcaccgtggcaggt	13	13	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:23219473C>T	ENST00000400191.3	+	7	1543	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374630.3_Missense_Mutation_p.R509W|EPHB2_ENST00000374632.3_Missense_Mutation_p.R509W|EPHB2_ENST00000374627.1_Missense_Mutation_p.R504W	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	509	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CTTCCAGGTGCGGGCACGCAC	0.607																																						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.(1525-1527)Cgg>Tgg		EPH receptor B2							67	68	68					1																	23219473		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23219473C>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.1525C>T	1.37:g.23219473C>T	ENSP00000383053:p.Arg509Trp		Somatic				EPHB2_ENST00000374632.3_Missense_Mutation_p.R509W|EPHB2_ENST00000374627.1_Missense_Mutation_p.R504W|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374630.3_Missense_Mutation_p.R509W	p.R509W	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)	7	1543	+		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)	509			Fibronectin type-III 2.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.1525C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.266548	0.95399	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.23	5.23	0.72850	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.075464	0.56097	D	0.000036	T	0.80486	0.4632	M	0.90705	3.14	0.80722	D	1	D;D;D;D	0.76494	0.988;0.999;0.998;0.992	P;D;D;D	0.70016	0.809;0.967;0.967;0.954	D	0.84428	0.0575	10	0.87932	D	0	.	17.5404	0.87845	0.0:1.0:0.0:0.0	.	509;509;527;509	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	W	509;509;509;509;504	ENSP00000363761:R509W;ENSP00000383053:R509W;ENSP00000363763:R509W;ENSP00000363758:R504W	ENSP00000363755:R509W	R	+	1	2	EPHB2	23092060	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.781000	0.68964	2.723000	0.93209	0.655000	0.94253	CGG		0.607	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		37	69	0	0	0	1	0	37	69					T	23219473	C	T	23219473	3	4	48	1	0	0	0	0	1	0	0	0	5177	759	27	1	1551	1	EPHB2	1	23219473	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	299545	23219473	226031148	36	4504										
KDM1A	23028	broad.mit.edu	37	chr1	23408000	23408000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcatggaaaacataagtgaCgatgtgattgttggccgatg	12	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:23408000C>T	ENST00000356634.3	+	17	2309	c.2160C>T	c.(2158-2160)gaC>gaT	p.D720D	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Silent_p.D744D|KDM1A_ENST00000400181.4_Silent_p.D744D	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	720	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						ACATAAGTGACGATGTGATTG	0.483																																						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.(2230-2232)gaC>gaT		lysine (K)-specific demethylase 1A							129	117	121					1																	23408000		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.chr1:23408000C>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.2160C>T	1.37:g.23408000C>T			Somatic				KDM1A_ENST00000356634.3_Silent_p.D720D|KDM1A_ENST00000542151.1_Silent_p.D744D|RP1-184J9.2_ENST00000427154.1_RNA	p.D744D	NM_001009999.2	NP_001009999.1	WXS	Illumina GAIIx	Phase_I	O60341	KDM1A_HUMAN			19	2336	+			720			Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	ENST00000356634.3	37	c.2232C>T	CCDS30627.1																																																																																				0.483	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		31	43	0	0	0	1	0	31	43					T	23408000	C	T	23408000	2	4	48	1	0	0	0	0	0	0	0	1	8131	535	19	1		1	KDM1A	1	23408000	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	188527	23408000	225842621	37	4505										
TCEA3	6920	broad.mit.edu	37	chr1	23743807	23743807	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcttctggcttccagtctgaAcactcaagccctttttcctt	6	14	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:23743807A>T	ENST00000450454.2	-	4	421	c.315T>A	c.(313-315)tgT>tgA	p.C105*	TCEA3_ENST00000374601.3_Nonsense_Mutation_p.C105*|TCEA3_ENST00000461794.1_Nonsense_Mutation_p.C68*	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	105					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TCCAGTCTGAACACTCAAGcc	0.473																																						ENST00000450454.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7						c.(313-315)tgT>tgA		transcription elongation factor A (SII), 3							188	182	184					1																	23743807		1852	4096	5948	SO:0001587	stop_gained	6920				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	g.chr1:23743807A>T	AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.315T>A	1.37:g.23743807A>T	ENSP00000406293:p.Cys105*		Somatic				TCEA3_ENST00000461794.1_Nonsense_Mutation_p.C68*|TCEA3_ENST00000374601.3_Nonsense_Mutation_p.C105*	p.C105*	NM_003196.1	NP_003187.1	WXS	Illumina GAIIx	Phase_I	O75764	TCEA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)	4	421	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)	105					A8K2K7|Q5DR83	Nonsense_Mutation	SNP	ENST00000450454.2	37	c.315T>A	CCDS44086.1	.	.	.	.	.	.	.	.	.	.	A	9.742	1.165016	0.21538	.	.	ENSG00000204219	ENST00000450454;ENST00000374601	.	.	.	5.02	3.9	0.45041	.	2.104930	0.01538	N	0.019098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-2.5592	7.4641	0.27312	0.9037:0.0:0.0963:0.0	.	.	.	.	X	105	.	ENSP00000363729:C105X	C	-	3	2	TCEA3	23616394	0.004000	0.15560	0.029000	0.17559	0.045000	0.14185	0.676000	0.25247	1.055000	0.40461	0.533000	0.62120	TGT		0.473	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008911.2	NM_003196		8	70	0	0	0	1	0	8	70					T	23743807	A	T	23743807	4	4	48	1	0	0	0	0	0	1	0	0	15684	41	2	4	763	4	TCEA3	1	23743807	Nonsense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	335807	23743807	225506814	38	4506										
TCEB3	6924	broad.mit.edu	37	chr1	24077751	24077751	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggccacagcaatgcctttcAggacagactcggggccagcc	12	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:24077751A>C	ENST00000418390.2	+	4	1005	c.734A>C	c.(733-735)cAg>cCg	p.Q245P	TCEB3_ENST00000609199.1_Missense_Mutation_p.Q219P	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	245					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)		AATGCCTTTCAGGACAGACTC	0.542											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(733-735)cAg>cCg		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							74	83	80					1																	24077751		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.chr1:24077751A>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.734A>C	1.37:g.24077751A>C	ENSP00000395574:p.Gln245Pro		Somatic	OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768		p.Q245P	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)	4	1005	+		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)	245					B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	37	c.734A>C	CCDS239.2	.	.	.	.	.	.	.	.	.	.	A	17.26	3.345373	0.61073	.	.	ENSG00000011007	ENST00000418390	T	0.08370	3.1	5.22	5.22	0.72569	.	0.120989	0.37715	N	0.001973	T	0.22975	0.0555	M	0.66939	2.045	0.45837	D	0.998706	D	0.63880	0.993	P	0.59288	0.855	T	0.00391	-1.1769	10	0.87932	D	0	-9.7174	13.8284	0.63366	1.0:0.0:0.0:0.0	.	245	Q14241	ELOA1_HUMAN	P	245	ENSP00000395574:Q245P	ENSP00000395574:Q245P	Q	+	2	0	TCEB3	23950338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.653000	0.46691	2.193000	0.70182	0.533000	0.62120	CAG		0.542	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		50	90	0	0	0	1	0	50	90					C	24077751	A	C	24077751	3	2	48	1	0	0	0	0	1	0	0	0	15696	188	7	4	748	4	TCEB3	1	24077751	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	333944	24077751	225172870	39	4507										
CNR2	1269	broad.mit.edu	37	chr1	24201065	24201065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatctctggaatctggccacGgagtgattttcccatcagcc	10	12	3	1	rs200710174		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:24201065G>A	ENST00000374472.4	-	2	1204	c.1043C>T	c.(1042-1044)cCg>cTg	p.P348L	CNR2_ENST00000536471.1_Missense_Mutation_p.P348L	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	348					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	ATCTGGCCACGGAGTGATTTT	0.507													G|||	1	0.000199681	8e-04	0	5008	,	,		21312	0		0	False		,,,				2504	0					ENST00000536471.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26						c.(1042-1044)cCg>cTg		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)	G	LEU/PRO	4,4402	8.1+/-20.4	0,4,2199	92	105	100		1043	-7.1	0	1		100	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CNR2	NM_001841.2	98	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	benign	348/361	24201065	5,13001	2203	4300	6503	SO:0001583	missense	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201065G>A	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"GPCR / Class A : Cannabinoid receptors"	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.1043C>T	1.37:g.24201065G>A	ENSP00000363596:p.Pro348Leu		Somatic				CNR2_ENST00000374472.4_Missense_Mutation_p.P348L	p.P348L			WXS	Illumina GAIIx	Phase_I	P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	3	1301	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	348					C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	c.1043C>T	CCDS245.1	.	.	.	.	.	.	.	.	.	.	G	8.349	0.830407	0.16749	9.08E-4	1.16E-4	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.76968	-1.06;-1.06	3.56	-7.12	0.01537	.	2.096180	0.02648	N	0.106075	T	0.59032	0.2164	N	0.14661	0.345	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.52518	-0.8565	10	0.62326	D	0.03	.	6.4674	0.21990	0.2529:0.0:0.4541:0.293	.	348	P34972	CNR2_HUMAN	L	348	ENSP00000363596:P348L;ENSP00000442830:P348L	ENSP00000363596:P348L	P	-	2	0	CNR2	24073652	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.079000	0.11357	-2.255000	0.00696	0.563000	0.77884	CCG		0.507	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		40	76	0	0	0	1	0	40	76					A	24201065	G	A	24201065	3	1	48	1	0	0	0	0	1	0	0	0	3634	1116	39	1	43	1	CNR2	1	24201065	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	123314	24201065	225049556	40	4508										
MYOM3	127294	broad.mit.edu	37	chr1	24388592	24388592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgatcaccactctccagacGtttgtctctgaatgtgaggg	10	12	3	3	rs199620469		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:24388592G>A	ENST00000374434.3	-	33	3940	c.3778C>T	c.(3778-3780)Cgt>Tgt	p.R1260C	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.R153C|MYOM3_ENST00000330966.7_Missense_Mutation_p.R1263C	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1260						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)		CTCTCCAGACGTTTGTCTCTG	0.512																																						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.(3787-3789)Cgt>Tgt		myomesin 3		G	CYS/ARG	3,3883		0,3,1940	141	140	140		3778	5.2	1	1		140	0,8264		0,0,4132	yes	missense	MYOM3	NM_152372.3	180	0,3,6072	AA,AG,GG		0.0,0.0772,0.0247	probably-damaging	1260/1438	24388592	3,12147	1943	4132	6075	SO:0001583	missense	127294							g.chr1:24388592G>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.3778C>T	1.37:g.24388592G>A	ENSP00000363557:p.Arg1260Cys		Somatic				MYOM3_ENST00000374434.3_Missense_Mutation_p.R1260C|MYOM3_ENST00000338909.5_Missense_Mutation_p.R153C|RP11-293P20.2_ENST00000439239.2_RNA	p.R1263C			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	3949	-		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)	1260					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.3787C>T	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227747	0.58668	7.72E-4	0.0	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.42131	0.98;0.98;0.98	5.21	5.21	0.72293	Immunoglobulin-like fold (1);	0.185462	0.45867	D	0.000321	T	0.59155	0.2173	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.999	P;D	0.65987	0.893;0.94	T	0.60772	-0.7197	10	0.56958	D	0.05	.	13.6949	0.62572	0.0:0.0:0.8457:0.1543	.	1260;153	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	C	153;1260;1263;155	ENSP00000342689:R153C;ENSP00000363557:R1260C;ENSP00000332670:R1263C	ENSP00000332670:R1263C	R	-	1	0	MYOM3	24261179	0.703000	0.27826	1.000000	0.80357	0.360000	0.29518	2.243000	0.43115	2.422000	0.82143	0.591000	0.81541	CGT		0.512	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		35	81	0	0	0	1	0	35	81					A	24388592	G	A	24388592	3	1	48	1	0	0	0	0	1	0	0	0	10102	1145	40	1	555	1	MYOM3	1	24388592	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	187527	24388592	224862029	41	4509										
RHD	6007	broad.mit.edu	37	chr1	25599130	25599130	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattctcctcttctatttttTtacccactatgacgcttcct	2	14	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:25599130T>G	ENST00000328664.4	+	1	247	c.92T>G	c.(91-93)tTt>tGt	p.F31C	RHD_ENST00000454452.2_Missense_Mutation_p.F31C|RHD_ENST00000417538.2_Missense_Mutation_p.F31C|RHD_ENST00000423810.2_Missense_Mutation_p.F31C|RHD_ENST00000568195.1_Missense_Mutation_p.F31C|RHD_ENST00000342055.5_Missense_Mutation_p.F31C|RHD_ENST00000357542.4_Missense_Mutation_p.F31C|RHD_ENST00000423253.1_3'UTR	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	31						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCTATTTTTTTACCCACTAT	0.527																																						ENST00000328664.4																			0				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14	GRCh37	CM074996	RHD	M		c.(91-93)tTt>tGt		Rh blood group, D antigen							69	61	64					1																	25599130		2201	4296	6497	SO:0001583	missense	6007					integral to plasma membrane		g.chr1:25599130T>G	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"CD molecules", "Blood group antigens"	10009	protein-coding gene	gene with protein product		111680	"Rhesus blood group, D antigen", "Rh blood group, D antigen"	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.92T>G	1.37:g.25599130T>G	ENSP00000331871:p.Phe31Cys		Somatic				RHD_ENST00000417538.2_Missense_Mutation_p.F31C|RHD_ENST00000454452.2_Missense_Mutation_p.F31C|RHD_ENST00000568195.1_Missense_Mutation_p.F31C|RHD_ENST00000357542.4_Missense_Mutation_p.F31C|RHD_ENST00000342055.5_Missense_Mutation_p.F31C|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000423810.2_Missense_Mutation_p.F31C	p.F31C	NM_016124.3	NP_057208.2	WXS	Illumina GAIIx	Phase_I	Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	1	247	+		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)	31					Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	ENST00000328664.4	37	c.92T>G	CCDS262.1	.	.	.	.	.	.	.	.	.	.	t	12.96	2.095249	0.36952	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	3.5	2.32	0.28847	Ammonium transporter AmtB-like (1);	0.733035	0.14062	N	0.344007	T	0.51975	0.1706	M	0.80746	2.51	0.30817	N	0.738182	P;P;D;P;B;D;P;P	0.89917	0.567;0.751;1.0;0.536;0.234;0.996;0.929;0.866	B;P;D;B;B;D;P;P	0.85130	0.366;0.652;0.997;0.398;0.366;0.917;0.737;0.6	T	0.51593	-0.8686	10	0.52906	T	0.07	-6.837	6.1386	0.20247	0.2265:0.0:0.0:0.7735	.	31;31;31;31;31;31;31;31	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	C	31	ENSP00000331871:F31C;ENSP00000413849:F31C;ENSP00000339577:F31C;ENSP00000350150:F31C;ENSP00000396420:F31C;ENSP00000399640:F31C	ENSP00000331871:F31C	F	+	2	0	RHD	25471717	0.972000	0.33761	0.083000	0.20561	0.027000	0.11550	2.018000	0.40991	0.345000	0.23873	0.433000	0.28618	TTT		0.527	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		4	85	0	0	0	1	0	4	85					G	25599130	T	G	25599130	3	3	48	1	0	0	0	0	1	0	0	0	13342	1841	64	4	94	4	RHD	1	25599130	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1210538	25599130	223651491	42	4510										
TMEM57	55219	broad.mit.edu	37	chr1	25783143	25783143	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctggattgtcttctttctaGtattgggtaccctgtggtaa	11	7	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:25783143G>A	ENST00000374343.4	+	5	652		c.e5-1		TMEM57_ENST00000470035.1_Intron|TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57						brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCTTTCTAGTATTGGGTAC	0.363																																						ENST00000374343.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.e5-1		transmembrane protein 57							48	47	48					1																	25783143		2203	4300	6503	SO:0001630	splice_region_variant	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25783143G>A	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.474-1G>A	1.37:g.25783143G>A			Somatic				TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000470035.1_Intron|TMEM57_ENST00000399763.3_Intron		NM_018202.4	NP_060672.2	WXS	Illumina GAIIx	Phase_I	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	5	652	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)						B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Splice_Site	SNP	ENST00000374343.4	37		CCDS30638.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574062	0.86542	.	.	ENSG00000204178	ENST00000374343	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9314	0.92568	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM57	25655730	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.467000	0.97671	2.690000	0.91761	0.557000	0.71058	.		0.363	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202	Intron	11	35	0	0	0	1	0	11	35					A	25783143	G	A	25783143	5	1	48	1	0	0	0	0	0	0	1	0	16199	1043	36	3	491	3	TMEM57	1	25783143	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	184013	25783143	223467478	43	4511										
MAN1C1	57134	broad.mit.edu	37	chr1	26085155	26085155	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggatccctgcacttggaattCttacacctcactgaactctc	6	14	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:26085155C>A	ENST00000374332.4	+	6	1332	c.1002C>A	c.(1000-1002)ttC>ttA	p.F334L	MAN1C1_ENST00000374329.1_Missense_Mutation_p.F105L|MAN1C1_ENST00000263979.3_Missense_Mutation_p.F154L|MAN1C1_ENST00000473891.1_3'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	334					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ACTTGGAATTCTTACACCTCA	0.587																																						ENST00000374332.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25						c.(1000-1002)ttC>ttA		mannosidase, alpha, class 1C, member 1							107	96	100					1																	26085155		2203	4300	6503	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:26085155C>A	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1002C>A	1.37:g.26085155C>A	ENSP00000363452:p.Phe334Leu		Somatic				MAN1C1_ENST00000473891.1_3'UTR|MAN1C1_ENST00000374329.1_Missense_Mutation_p.F105L|MAN1C1_ENST00000263979.3_Missense_Mutation_p.F154L	p.F334L	NM_020379.2	NP_065112.1	WXS	Illumina GAIIx	Phase_I	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	6	1332	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	334					A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.1002C>A	CCDS265.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089180	0.76756	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	T;T;T	0.79033	-1.23;-1.23;-1.23	4.71	4.71	0.59529	.	0.103033	0.64402	D	0.000002	D	0.87939	0.6304	M	0.87456	2.885	0.50313	D	0.99986	D	0.89917	1.0	D	0.91635	0.999	D	0.88854	0.3321	10	0.66056	D	0.02	.	10.0708	0.42332	0.0:0.9079:0.0:0.0921	.	334	Q9NR34	MA1C1_HUMAN	L	334;154;154;105	ENSP00000363452:F334L;ENSP00000263979:F154L;ENSP00000363449:F105L	ENSP00000263979:F154L	F	+	3	2	MAN1C1	25957742	0.884000	0.30299	1.000000	0.80357	0.998000	0.95712	1.111000	0.31159	2.447000	0.82792	0.655000	0.94253	TTC		0.587	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		25	58	1	0	5.45024e-15	1	7.15042e-15	25	58					A	26085155	C	A	26085155	3	1	48	1	0	0	0	0	1	0	0	0	9222	912	32	2	1024	2	MAN1C1	1	26085155	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	302012	26085155	223165466	44	4512										
UBXN11	91544	broad.mit.edu	37	chr1	26612003	26612003	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgctggagctctgagggaaaGaagccatccaatatgtctcg	12	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:26612003G>A	ENST00000374222.1	-	11	1268	c.804C>T	c.(802-804)ttC>ttT	p.F268F	UBXN11_ENST00000374217.2_Silent_p.F235F|UBXN11_ENST00000374221.3_Silent_p.F268F|UBXN11_ENST00000374223.1_Silent_p.F25F|UBXN11_ENST00000314675.7_Silent_p.F148F|UBXN11_ENST00000535108.1_Silent_p.F110F|UBXN11_ENST00000436301.2_Silent_p.F193F|UBXN11_ENST00000357089.4_Silent_p.F235F			Q5T124	UBX11_HUMAN	UBX domain protein 11	268	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CTGAGGGAAAGAAGCCATCCA	0.587											OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000314675.7																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(442-444)ttC>ttT		UBX domain protein 11							40	49	46					1																	26612003		2153	4272	6425	SO:0001819	synonymous_variant	91544					cytoplasm|cytoskeleton		g.chr1:26612003G>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.804C>T	1.37:g.26612003G>A			Somatic	OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	788	UBXN11_ENST00000374217.2_Silent_p.F235F|UBXN11_ENST00000374221.3_Silent_p.F268F|UBXN11_ENST00000374222.1_Silent_p.F268F|UBXN11_ENST00000535108.1_Silent_p.F110F|UBXN11_ENST00000436301.2_Silent_p.F193F|UBXN11_ENST00000374223.1_Silent_p.F25F|UBXN11_ENST00000357089.4_Silent_p.F235F	p.F148F	NM_001077262.1	NP_001070730.1	WXS	Illumina GAIIx	Phase_I	Q5T124	UBX11_HUMAN			6	523	-			268					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	37	c.444C>T	CCDS41288.1																																																																																				0.587	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		11	18	0	0	0	1	0	11	18					A	26612003	G	A	26612003	2	1	48	1	0	0	0	0	0	0	0	1	16928	933	33	3		3	UBXN11	1	26612003	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	526848	26612003	222638618	45	4513										
ARID1A	8289	broad.mit.edu	37	chr1	27099430	27099430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atacctctgacatgatggggCgcatgtcctatgagccaaat	10	10	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:27099430C>T	ENST00000324856.7	+	14	4038	c.3667C>T	c.(3667-3669)Cgc>Tgc	p.R1223C	ARID1A_ENST00000540690.1_5'Flank|ARID1A_ENST00000374152.2_Missense_Mutation_p.R840C|ARID1A_ENST00000457599.2_Missense_Mutation_p.R1223C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1223					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.M1220fs*9(1)|p.M1220fs*2(1)|p.R1223C(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)		CATGATGGGGCGCATGTCCTA	0.473			"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)	3	Deletion - Frameshift(2)|Substitution - Missense(1)	p.M1220fs*9(1)|p.M1220fs*2(1)|p.R1223C(1)	ovary(2)|large_intestine(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.(3667-3669)Cgc>Tgc		AT rich interactive domain 1A (SWI-like)							99	103	102					1																	27099430		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.chr1:27099430C>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.3667C>T	1.37:g.27099430C>T	ENSP00000320485:p.Arg1223Cys		Somatic				ARID1A_ENST00000457599.2_Missense_Mutation_p.R1223C|ARID1A_ENST00000374152.2_Missense_Mutation_p.R840C	p.R1223C	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)	14	4038	+		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)	1223					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.3667C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.76|15.76	2.927453|2.927453	0.52759|0.52759	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152	.|T;T;T	.|0.03553	.|4.04;3.89;3.89	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.16128|0.16128	0.0388|0.0388	M|M	0.67397|0.67397	2.05|2.05	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	.|0.85130	.|0.997;0.993;0.997;0.993	T|T	0.00007|0.00007	-1.2495|-1.2495	5|10	.|0.87932	.|D	.|0	-8.6821|-8.6821	14.1221|14.1221	0.65195|0.65195	0.1499:0.8501:0.0:0.0|0.1499:0.8501:0.0:0.0	.|.	.|840;1223;1223;876	.|O14497-3;O14497;O14497-2;Q4LE49	.|.;ARI1A_HUMAN;.;.	V|C	119|1223;1223;840	.|ENSP00000320485:R1223C;ENSP00000387636:R1223C;ENSP00000363267:R840C	.|ENSP00000320485:R1223C	A|R	+|+	2|1	0|0	ARID1A|ARID1A	26972017|26972017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.464000|5.464000	0.66719|0.66719	2.791000|2.791000	0.96007|0.96007	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		22	29	0	0	0	1	0	22	29					T	27099430	C	T	27099430	3	4	48	1	0	0	0	0	1	0	0	0	913	768	27	1	3721	1	ARID1A	1	27099430	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	487427	27099430	222151191	46	4514										
ARID1A	8289	broad.mit.edu	37	chr1	27100374	27100374	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccagcagactacaatgtaTcaacagcaacagcaggtgag	10	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:27100374T>G	ENST00000324856.7	+	17	4457	c.4086T>G	c.(4084-4086)taT>taG	p.Y1362*	ARID1A_ENST00000540690.1_De_novo_Start_OutOfFrame|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Y979*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Y1362*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1362	Gln-rich.				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)		CTACAATGTATCAACAGCAAC	0.488			"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.(4084-4086)taT>taG		AT rich interactive domain 1A (SWI-like)							131	136	135					1																	27100374		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100374T>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.4086T>G	1.37:g.27100374T>G	ENSP00000320485:p.Tyr1362*		Somatic				ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Y1362*|ARID1A_ENST00000540690.1_De_novo_Start_OutOfFrame|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Y979*	p.Y1362*	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)	17	4457	+		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)	1362			Gln-rich.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.4086T>G	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	41|41	9.126376|9.126376	0.99075|0.99075	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152	.|.	.|.	.|.	5.67|5.67	3.31|3.31	0.37934|0.37934	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.25644|.	0.0624|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15521|.	-1.0434|.	4|.	.|0.02654	.|T	.|1	-1.1635|-1.1635	5.2985|5.2985	0.15766|0.15766	0.0:0.1637:0.1624:0.6739|0.0:0.1637:0.1624:0.6739	.|.	.|.	.|.	.|.	A|X	259|1362;1362;979	.|.	.|ENSP00000320485:Y1362X	S|Y	+|+	1|3	0|2	ARID1A|ARID1A	26972961|26972961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	1.334000|1.334000	0.33827|0.33827	0.967000|0.967000	0.38186|0.38186	0.533000|0.533000	0.62120|0.62120	TCA|TAT		0.488	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		76	128	0	0	0	1	0	76	128					G	27100374	T	G	27100374	4	3	48	1	0	0	0	0	0	1	0	0	913	1442	50	4	4152	4	ARID1A	1	27100374	Nonsense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	944	27100374	222150247	47	4515										
MAP3K6	9064	broad.mit.edu	37	chr1	27683511	27683511	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccctcctacccggtcctagcAcacccagggctgcccgcaca	8	21	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:27683511A>G	ENST00000493901.1	-	25	3592	c.3353T>C	c.(3352-3354)gTg>gCg	p.V1118A	MAP3K6_ENST00000374040.3_Missense_Mutation_p.V1110A|MAP3K6_ENST00000357582.2_Missense_Mutation_p.V1118A	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1118					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)		CGGTCCTAGCACACCCAGGGC	0.662																																						ENST00000374040.3																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(3328-3330)gTg>gCg		mitogen-activated protein kinase kinase kinase 6							40	40	40					1																	27683511		2202	4300	6502	SO:0001583	missense	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27683511A>G	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.3353T>C	1.37:g.27683511A>G	ENSP00000419591:p.Val1118Ala		Somatic				MAP3K6_ENST00000493901.1_Missense_Mutation_p.V1118A|MAP3K6_ENST00000357582.2_Missense_Mutation_p.V1118A	p.V1110A			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)	23	3589	-		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)	1118					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	c.3329T>C	CCDS299.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984179	0.74474	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000357582	T;T;T	0.72051	-0.62;-0.62;-0.62	5.33	4.21	0.49690	.	.	.	.	.	T	0.65863	0.2732	L	0.59436	1.845	0.36837	D	0.887206	B;B	0.12630	0.006;0.004	B;B	0.13407	0.009;0.004	T	0.66626	-0.5876	9	0.72032	D	0.01	.	10.2039	0.43101	0.9203:0.0:0.0797:0.0	.	1110;1118	O95382-3;O95382	.;M3K6_HUMAN	A	1110;1118;1118	ENSP00000363152:V1110A;ENSP00000419591:V1118A;ENSP00000350195:V1118A	ENSP00000350195:V1118A	V	-	2	0	MAP3K6	27556098	1.000000	0.71417	0.137000	0.22149	0.587000	0.36485	3.809000	0.55606	0.869000	0.35703	0.459000	0.35465	GTG		0.662	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		14	29	0	0	0	1	0	14	29					G	27683511	A	G	27683511	3	3	48	1	0	0	0	0	1	0	0	0	9263	159	6	4	537	4	MAP3K6	1	27683511	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	583137	27683511	221567110	48	4516										
FGR	2268	broad.mit.edu	37	chr1	27941062	27941062	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggtcgcggtgaatgtagttCatgcgttccatgtaggccat	13	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:27941062C>A	ENST00000374005.3	-	11	1416	c.1128G>T	c.(1126-1128)atG>atT	p.M376I	FGR_ENST00000545953.1_Missense_Mutation_p.M310I|FGR_ENST00000374004.1_Missense_Mutation_p.M376I|FGR_ENST00000399173.1_Missense_Mutation_p.M376I	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	376	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)		GAATGTAGTTCATGCGTTCCA	0.592																																						ENST00000374005.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16						c.(1126-1128)atG>atT		feline Gardner-Rasheed sarcoma viral oncogene homolog							108	85	93					1																	27941062		2203	4300	6503	SO:0001583	missense	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27941062C>A	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.1128G>T	1.37:g.27941062C>A	ENSP00000363117:p.Met376Ile		Somatic				FGR_ENST00000545953.1_Missense_Mutation_p.M310I|FGR_ENST00000399173.1_Missense_Mutation_p.M376I|FGR_ENST00000374004.1_Missense_Mutation_p.M376I	p.M376I	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)	11	1416	-		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)	376			Protein kinase.		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	37	c.1128G>T	CCDS305.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597062	0.87055	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	5.14	5.14	0.70334	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.77811	0.4186	N	0.14661	0.345	0.36261	D	0.854546	P	0.39326	0.668	P	0.44990	0.466	D	0.84162	0.0429	10	0.62326	D	0.03	.	17.5568	0.87892	0.0:1.0:0.0:0.0	.	376	P09769	FGR_HUMAN	I	376;310;376;376;376	ENSP00000363117:M376I;ENSP00000445302:M310I;ENSP00000382126:M376I;ENSP00000363116:M376I;ENSP00000363115:M376I	ENSP00000363115:M376I	M	-	3	0	FGR	27813649	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.818000	0.86416	2.562000	0.86427	0.462000	0.41574	ATG		0.592	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		11	17	1	0	0.00829132	1	0.00855608	11	17					A	27941062	C	A	27941062	3	1	48	1	0	0	0	0	1	0	0	0	5882	826	29	2	473	2	FGR	1	27941062	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	257551	27941062	221309559	49	4517										
PPP1R8	5511	broad.mit.edu	37	chr1	28167551	28167551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcactttcttgggtcacattCggttggaacctcacaagcct	9	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:28167551C>T	ENST00000311772.5	+	4	356	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	PPP1R8_ENST00000236412.7_Intron|PPP1R8_ENST00000373931.4_5'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	100	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Interaction with CDC5L, SF3B1 and MELK.				cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTCACATTCGGTTGGAACC	0.478																																						ENST00000311772.5																			0				breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(298-300)Cgg>Tgg		protein phosphatase 1, regulatory subunit 8							140	139	139					1																	28167551		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.chr1:28167551C>T	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.298C>T	1.37:g.28167551C>T	ENSP00000311677:p.Arg100Trp		Somatic				PPP1R8_ENST00000236412.7_Intron|PPP1R8_ENST00000373931.4_5'UTR	p.R100W	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)	4	356	+		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)	100			FHA.|Interaction with CDC5L, SF3B1 and MELK.		Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Missense_Mutation	SNP	ENST00000311772.5	37	c.298C>T	CCDS311.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798448	0.90538	.	.	ENSG00000117751	ENST00000311772;ENST00000434313	D	0.89746	-2.56	5.58	4.65	0.58169	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.96140	0.8742	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97344	0.9959	10	0.87932	D	0	-8.312	15.6807	0.77367	0.1383:0.8617:0.0:0.0	.	100	Q12972	PP1R8_HUMAN	W	100	ENSP00000311677:R100W	ENSP00000311677:R100W	R	+	1	2	PPP1R8	28040138	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.666000	0.83877	1.331000	0.45412	0.561000	0.74099	CGG		0.478	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010528.1	NM_014110		38	78	0	0	0	1	0	38	78					T	28167551	C	T	28167551	3	4	48	1	0	0	0	0	1	0	0	0	12389	875	31	1	312	1	PPP1R8	1	28167551	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	226489	28167551	221083070	50	4518										
TRNAU1AP	54952	broad.mit.edu	37	chr1	28897731	28897731	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atagtcagatgtacagttatAgctacaaccagtattatcag	7	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:28897731A>G	ENST00000373830.3	+	7	600	c.574A>G	c.(574-576)Agc>Ggc	p.S192G		NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	192	Tyr-rich.				selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						GTACAGTTATAGCTACAACCA	0.428																																						ENST00000373830.3																			0				breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						c.(574-576)Agc>Ggc		tRNA selenocysteine 1 associated protein 1							182	151	162					1																	28897731		2203	4300	6503	SO:0001583	missense	54952				selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:28897731A>G		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"RNA binding motif (RRM) containing"	30813	protein-coding gene	gene with protein product			"tRNA selenocysteine associated protein 1"	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.574A>G	1.37:g.28897731A>G	ENSP00000362936:p.Ser192Gly		Somatic					p.S192G	NM_017846.4	NP_060316.1	WXS	Illumina GAIIx	Phase_I	Q9NX07	TSAP1_HUMAN			7	600	+			192			Tyr-rich.		Q86SU7	Missense_Mutation	SNP	ENST00000373830.3	37	c.574A>G	CCDS324.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.548994	0.45383	.	.	ENSG00000180098	ENST00000373830	T	0.23950	1.88	5.87	5.87	0.94306	.	0.317040	0.40818	N	0.001018	T	0.14141	0.0342	N	0.08118	0	0.30182	N	0.800318	B	0.16603	0.018	B	0.16722	0.016	T	0.11665	-1.0578	10	0.20519	T	0.43	.	13.6158	0.62108	1.0:0.0:0.0:0.0	.	192	Q9NX07	TSAP1_HUMAN	G	192	ENSP00000362936:S192G	ENSP00000362936:S192G	S	+	1	0	TRNAU1AP	28770318	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.552000	0.73914	2.240000	0.73641	0.533000	0.62120	AGC		0.428	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		28	37	0	0	0	1	0	28	37					G	28897731	A	G	28897731	3	3	48	1	0	0	0	0	1	0	0	0	16587	420	15	4	600	4	TRNAU1AP	1	28897731	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	730180	28897731	220352890	51	4519										
MECR	51102	broad.mit.edu	37	chr1	29533290	29533290	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctacctggctgcagttgctcGaagtccatcaacatcctgta	8	13	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:29533290G>A	ENST00000263702.6	-	4	559	c.534C>T	c.(532-534)ttC>ttT	p.F178F	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000373791.3_Silent_p.F102F			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	178					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)		GCAGTTGCTCGAAGTCCATCA	0.592																																						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.(304-306)ttC>ttT		mitochondrial trans-2-enoyl-CoA reductase							113	99	104					1																	29533290		2203	4300	6503	SO:0001819	synonymous_variant	51102				fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	g.chr1:29533290G>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.534C>T	1.37:g.29533290G>A			Somatic				MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Silent_p.F178F	p.F102F	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	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)	4	678	-		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)	178					B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Silent	SNP	ENST00000263702.6	37	c.306C>T	CCDS30659.1																																																																																				0.592	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		24	52	0	0	0	1	0	24	52					A	29533290	G	A	29533290	2	1	48	1	0	0	0	0	0	0	0	1	9433	1049	37	1		1	MECR	1	29533290	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	635559	29533290	219717331	52	4520										
MATN1	4146	broad.mit.edu	37	chr1	31194488	31194488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggccccacgtccagcgactCgatgacctgggacaggaata	13	13	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:31194488C>T	ENST00000373765.4	-	2	240	c.205G>A	c.(205-207)Gag>Aag	p.E69K	MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000414532.2_RNA|MATN1_ENST00000477320.1_5'Flank|MATN1-AS1_ENST00000454613.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	69	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGCGACTCGATGACCTGG	0.602																																						ENST00000373765.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(205-207)Gag>Aag		matrilin 1, cartilage matrix protein							74	79	77					1																	31194488		2203	4300	6503	SO:0001583	missense	4146				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:31194488C>T	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.205G>A	1.37:g.31194488C>T	ENSP00000362870:p.Glu69Lys		Somatic				MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA	p.E69K	NM_002379.3	NP_002370.1	WXS	Illumina GAIIx	Phase_I	P21941	MATN1_HUMAN		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)	2	240	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	69			VWFA 1.		B2R7E3|Q5TBB9	Missense_Mutation	SNP	ENST00000373765.4	37	c.205G>A	CCDS336.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678630	0.47886	.	.	ENSG00000162510	ENST00000373765	T	0.78126	-1.15	4.62	2.71	0.32032	von Willebrand factor, type A (3);	.	.	.	.	T	0.65595	0.2706	L	0.33710	1.025	0.51767	D	0.999933	B	0.16166	0.016	B	0.18561	0.022	T	0.54879	-0.8227	9	0.22706	T	0.39	-27.6442	11.457	0.50187	0.0:0.8496:0.0:0.1504	.	69	P21941	MATN1_HUMAN	K	69	ENSP00000362870:E69K	ENSP00000362870:E69K	E	-	1	0	MATN1	30967075	0.998000	0.40836	0.979000	0.43373	0.545000	0.35147	3.346000	0.52190	0.477000	0.27464	-0.221000	0.12465	GAG		0.602	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		47	102	0	0	0	1	0	47	102					T	31194488	C	T	31194488	3	4	48	1	0	0	0	0	1	0	0	0	9342	893	31	1	1313	1	MATN1	1	31194488	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1661198	31194488	218056133	53	4521										
LAPTM5	7805	broad.mit.edu	37	chr1	31212746	31212746	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacaggagatagtccatgatTtgcagggacaggaagggcag	15	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:31212746T>C	ENST00000294507.3	-	4	371	c.297A>G	c.(295-297)caA>caG	p.Q99Q	MIR4420_ENST00000583944.1_RNA|LAPTM5_ENST00000476492.1_5'Flank	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	99					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		AGTCCATGATTTGCAGGGACA	0.612																																						ENST00000294507.3																			0				large_intestine(2)|lung(7)|skin(1)	10						c.(295-297)caA>caG		lysosomal protein transmembrane 5							152	115	128					1																	31212746		2203	4300	6503	SO:0001819	synonymous_variant	7805				transport	integral to plasma membrane|lysosomal membrane		g.chr1:31212746T>C	U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"lysosomal multispanning membrane protein 5"			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.297A>G	1.37:g.31212746T>C			Somatic					p.Q99Q	NM_006762.2	NP_006753.1	WXS	Illumina GAIIx	Phase_I	Q13571	LAPM5_HUMAN		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)	4	371	-		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)	99					Q13240|Q14698|Q3KP54	Silent	SNP	ENST00000294507.3	37	c.297A>G	CCDS337.1																																																																																				0.612	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010463.1	NM_006762		19	36	0	0	0	1	0	19	36					C	31212746	T	C	31212746	2	2	48	1	0	0	0	0	0	0	0	1	8635	1838	64	4		4	LAPTM5	1	31212746	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	18258	31212746	218037875	54	4522										
ZCCHC17	51538	broad.mit.edu	37	chr1	31810034	31810034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgcccaggtctggtccatcGaactcatatgtcatcctgtc	9	13	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:31810034G>A	ENST00000373714.1	+	4	398	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	RP11-266K22.2_ENST00000430143.1_RNA|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.R38Q|ZCCHC17_ENST00000479629.1_3'UTR|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.R46Q|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.R22Q	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	46	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.					cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		CTGGTCCATCGAACTCATATG	0.438																																						ENST00000373714.1																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6						c.(136-138)cGa>cAa		zinc finger, CCHC domain containing 17							183	174	177					1																	31810034		2203	4300	6503	SO:0001583	missense	51538					nucleolus	RNA binding|zinc ion binding	g.chr1:31810034G>A	AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"Zinc fingers, CCHC domain containing"	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.137G>A	1.37:g.31810034G>A	ENSP00000362819:p.Arg46Gln		Somatic				RP11-266K22.2_ENST00000430143.1_RNA|ZCCHC17_ENST00000479629.1_3'UTR|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.R22Q|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.R46Q|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.R38Q	p.R46Q			WXS	Illumina GAIIx	Phase_I	Q9NP64	NO40_HUMAN		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)	4	398	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)	46			S1 motif.		B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Missense_Mutation	SNP	ENST00000373714.1	37	c.137G>A	CCDS341.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201501	0.58234	.	.	ENSG00000121766	ENST00000344147;ENST00000373714;ENST00000546109;ENST00000422613	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	6.17	3.29	0.37713	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);	0.431927	0.22414	N	0.060366	T	0.33904	0.0879	L	0.49778	1.585	0.27142	N	0.96162	P;P;B	0.36010	0.532;0.493;0.364	B;B;B	0.38842	0.283;0.095;0.089	T	0.17868	-1.0355	10	0.32370	T	0.25	.	4.5231	0.11969	0.2859:0.0:0.5682:0.1458	.	22;38;46	E7EPF0;B4DY38;Q9NP64	.;.;NO40_HUMAN	Q	46;46;38;22	ENSP00000343557:R46Q;ENSP00000362819:R46Q;ENSP00000444742:R38Q;ENSP00000391336:R22Q	ENSP00000343557:R46Q	R	+	2	0	ZCCHC17	31582621	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.365000	0.44196	0.475000	0.27415	0.655000	0.94253	CGA		0.438	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010665.1	NM_016505		33	51	0	0	0	1	0	33	51					A	31810034	G	A	31810034	3	1	48	1	0	0	0	0	1	0	0	0	17600	1058	37	1	147	1	ZCCHC17	1	31810034	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	597288	31810034	217440587	55	4523										
ZBTB8A	653121	broad.mit.edu	37	chr1	33060820	33060820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccatctaagtagccattttcGaacagtatgtatgatttttt	6	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:33060820G>A	ENST00000373510.4	+	4	1218	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R330Q|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	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)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						AGCCATTTTCGAACAGTATGT	0.383																																						ENST00000373510.4																			0				cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(988-990)cGa>cAa		zinc finger and BTB domain containing 8A							131	121	124					1																	33060820		2203	4300	6503	SO:0001583	missense	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33060820G>A	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24172	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 8"	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.989G>A	1.37:g.33060820G>A	ENSP00000362609:p.Arg330Gln		Somatic				RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R330Q	p.R330Q	NM_001040441.1	NP_001035531.1	WXS	Illumina GAIIx	Phase_I	Q96BR9	ZBT8A_HUMAN			4	1218	+			330					Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	c.989G>A	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820764	0.50633	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.09445	2.98;2.98	5.43	5.43	0.79202	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.229594	0.37304	N	0.002144	T	0.04724	0.0128	N	0.08118	0	0.32677	N	0.516023	B;P	0.49862	0.013;0.929	B;B	0.34418	0.004;0.182	T	0.23332	-1.0191	10	0.31617	T	0.26	-5.4871	12.0581	0.53546	0.0787:0.0:0.9212:0.0	.	330;330	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	Q	330	ENSP00000362609:R330Q;ENSP00000317561:R330Q	ENSP00000317561:R330Q	R	+	2	0	ZBTB8A	32833407	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.852000	0.55934	2.727000	0.93392	0.579000	0.79373	CGA		0.383	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		56	33	0	0	0	1	0	56	33					A	33060820	G	A	33060820	3	1	48	1	0	0	0	0	1	0	0	0	17571	1058	37	1	995	1	ZBTB8A	1	33060820	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1250786	33060820	216189801	56	4524										
KIAA1522	57648	broad.mit.edu	37	chr1	33237828	33237828	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggccaccccaggccccaaaGaagtcacctaaggctccccc	8	20	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:33237828G>T	ENST00000373480.1	+	6	2974	c.2871G>T	c.(2869-2871)aaG>aaT	p.K957N	KIAA1522_ENST00000373481.3_Missense_Mutation_p.K968N|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.K1016N	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	957	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGGCCCCAAAGAAGTCACCTA	0.672																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(3046-3048)aaG>aaT		KIAA1522							27	34	31					1																	33237828		1924	4122	6046	SO:0001583	missense	57648							g.chr1:33237828G>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2871G>T	1.37:g.33237828G>T	ENSP00000362579:p.Lys957Asn		Somatic				KIAA1522_ENST00000373480.1_Missense_Mutation_p.K957N|KIAA1522_ENST00000373481.3_Missense_Mutation_p.K968N|KIAA1522_ENST00000294521.3_Intron	p.K1016N	NM_020888.2	NP_065939.2	WXS	Illumina GAIIx	Phase_I	Q9P206	K1522_HUMAN			6	3118	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	957					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.3048G>T	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337122	0.81801	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.13307	2.6;2.6;2.61	4.95	4.95	0.65309	.	0.079916	0.50627	D	0.000113	T	0.16300	0.0392	L	0.50333	1.59	0.38535	D	0.949075	P;P;P	0.47302	0.893;0.893;0.893	B;B;B	0.42653	0.32;0.32;0.394	T	0.03514	-1.1029	10	0.30854	T	0.27	-15.4329	15.8772	0.79173	0.0:0.1352:0.8648:0.0	.	968;957;1016	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	N	1016;968;957	ENSP00000383851:K1016N;ENSP00000362580:K968N;ENSP00000362579:K957N	ENSP00000362579:K957N	K	+	3	2	KIAA1522	33010415	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.428000	0.59894	2.729000	0.93468	0.650000	0.86243	AAG		0.672	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			28	53	1	0	1.42536e-11	1	1.77514e-11	28	53					T	33237828	G	T	33237828	3	4	48	1	0	0	0	0	1	0	0	0	8247	933	33	2	3070	2	KIAA1522	1	33237828	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	177008	33237828	216012793	57	4525										
PHC2	1912	broad.mit.edu	37	chr1	33796962	33796962	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cactcacctctttgcacaagCcatggaacagaagcgcttgg	9	13	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:33796962C>T	ENST00000257118.5	-	11	2043	c.1990G>A	c.(1990-1992)Gct>Act	p.A664T	PHC2_ENST00000431992.1_Missense_Mutation_p.A635T|PHC2_ENST00000373422.3_Missense_Mutation_p.A270T|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_Missense_Mutation_p.A129T|PHC2_ENST00000373416.1_Missense_Mutation_p.A129T|PHC2_ENST00000419414.2_Missense_Mutation_p.A665T|MIR3605_ENST00000583214.1_RNA	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	664					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)				TTTGCACAAGCCATGGAACAG	0.547																																						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.(1990-1992)Gct>Act		polyhomeotic homolog 2 (Drosophila)							104	111	109					1																	33796962		2203	4300	6503	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33796962C>T	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1990G>A	1.37:g.33796962C>T	ENSP00000257118:p.Ala664Thr		Somatic				PHC2_ENST00000373418.3_Missense_Mutation_p.A129T|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.A635T|PHC2_ENST00000419414.2_Missense_Mutation_p.A665T|PHC2_ENST00000373416.1_Missense_Mutation_p.A129T|PHC2_ENST00000373422.3_Missense_Mutation_p.A270T	p.A664T	NM_198040.2	NP_932157.1	WXS	Illumina GAIIx	Phase_I	Q8IXK0	PHC2_HUMAN			11	2043	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	664					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.1990G>A	CCDS378.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012743	0.93346	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.85	5.85	0.93711	Zinc finger, FCS-type (1);	0.113194	0.64402	D	0.000010	T	0.26412	0.0645	L	0.33093	0.98	0.43025	D	0.994586	P;P;P;P	0.37731	0.473;0.473;0.473;0.607	B;B;B;B	0.30782	0.056;0.056;0.056;0.12	T	0.07558	-1.0766	10	0.12766	T	0.61	-12.2817	11.0032	0.47618	0.0:0.9162:0.0:0.0838	.	665;636;664;79	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	T	635;664;270;129;242;665;129	ENSP00000389436:A635T;ENSP00000257118:A664T;ENSP00000362521:A270T;ENSP00000362517:A129T;ENSP00000391440:A665T;ENSP00000362515:A129T	ENSP00000257118:A664T	A	-	1	0	PHC2	33569549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.904000	0.48719	2.771000	0.95319	0.561000	0.74099	GCT		0.547	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		33	85	0	0	0	1	0	33	85					T	33796962	C	T	33796962	3	4	48	1	0	0	0	0	1	0	0	0	11826	739	26	3	602	3	PHC2	1	33796962	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	559134	33796962	215453659	58	4526										
CSMD2	114784	broad.mit.edu	37	chr1	34006219	34006219	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacccctccaggcaggcataAgtcacacttgagccccacat	7	16	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:34006219A>C	ENST00000373381.4	-	60	9713	c.9537T>G	c.(9535-9537)acT>acG	p.T3179T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3155	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCAGGCATAAGTCACACTTG	0.597																																						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.(9535-9537)acT>acG		CUB and Sushi multiple domains 2							114	99	104					1																	34006219		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34006219A>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.9537T>G	1.37:g.34006219A>C			Somatic					p.T3179T	NM_052896.3	NP_443128.2	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			60	9713	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3155			Sushi 25.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.9537T>G																																																																																					0.597	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		38	65	0	0	0	1	0	38	65					C	34006219	A	C	34006219	2	2	48	1	0	0	0	0	0	0	0	1	3947	59	3	4		4	CSMD2	1	34006219	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	209257	34006219	215244402	59	4527										
CSMD2	114784	broad.mit.edu	37	chr1	34166245	34166245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggctaaaaactcccagcaaaCgggcggagttgttgttgcca	12	10	0	0	rs201989989		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:34166245C>T	ENST00000373380.1	-	2	444	c.224G>A	c.(223-225)cGt>cAt	p.R75H	CSMD2_ENST00000373381.4_Missense_Mutation_p.R1202H|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1162	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCAGCAAACGGGCGGAGTT	0.498													C|||	1	0.000199681	0	0	5008	,	,		20624	0		0.001	False		,,,				2504	0					ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(3604-3606)cGt>cAt		CUB and Sushi multiple domains 2		C	HIS/ARG	0,4406		0,0,2203	99	86	90		3485	5.5	1	1		90	2,8598	2.2+/-6.3	0,2,4298	no	missense	CSMD2	NM_052896.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	1162/3488	34166245	2,13004	2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34166245C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.224G>A	1.37:g.34166245C>T	ENSP00000362478:p.Arg75His		Somatic				CSMD2_ENST00000373380.1_Missense_Mutation_p.R75H|CSMD2_ENST00000373388.2_5'UTR	p.R1202H	NM_052896.3	NP_443128.2	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			23	3781	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1162			CUB 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.3605G>A		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.82	3.482787	0.63962	0.0	2.33E-4	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.29397	1.57;1.57	5.48	5.48	0.80851	CUB (5);	0.060371	0.64402	D	0.000002	T	0.44477	0.1295	L	0.49126	1.545	0.80722	D	1	D;P;B	0.60160	0.987;0.838;0.404	P;B;B	0.59487	0.858;0.382;0.248	T	0.08411	-1.0723	10	0.12103	T	0.63	.	18.2651	0.90050	0.0:1.0:0.0:0.0	.	75;1162;1202	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	H	1202;75	ENSP00000362479:R1202H;ENSP00000362478:R75H	ENSP00000241312:R1162H	R	-	2	0	CSMD2	33938832	1.000000	0.71417	0.991000	0.47740	0.562000	0.35680	7.776000	0.85560	2.738000	0.93877	0.591000	0.81541	CGT		0.498	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		26	51	0	0	0	1	0	26	51					T	34166245	C	T	34166245	3	4	48	1	0	0	0	0	1	0	0	0	3947	536	19	1	7166	1	CSMD2	1	34166245	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	160026	34166245	215084376	60	4528										
GJA4	2701	broad.mit.edu	37	chr1	35259970	35259970	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgacgagcaatcagatttCgagtgtaacacggcccagcc	12	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:35259970C>T	ENST00000342280.4	+	2	244	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	52					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AATCAGATTTCGAGTGTAACA	0.597																																						ENST00000342280.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14						c.(154-156)ttC>ttT		gap junction protein, alpha 4, 37kDa							173	148	156					1																	35259970		2203	4300	6503	SO:0001819	synonymous_variant	2701				cell-cell junction assembly	integral to plasma membrane		g.chr1:35259970C>T	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"Ion channels / Gap junction proteins (connexins)"	4278	protein-coding gene	gene with protein product	"connexin 37"	121012	"gap junction protein, alpha 4, 37kD (connexin 37)", "gap junction protein, alpha 4, 37kDa (connexin 37)"			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.156C>T	1.37:g.35259970C>T			Somatic					p.F52F	NM_002060.2	NP_002051.2	WXS	Illumina GAIIx	Phase_I	P35212	CXA4_HUMAN			2	244	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	52					A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Silent	SNP	ENST00000342280.4	37	c.156C>T	CCDS30669.1																																																																																				0.597	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		48	91	0	0	0	1	0	48	91					T	35259970	C	T	35259970	2	4	48	1	0	0	0	0	0	0	0	1	6411	883	31	1		1	GJA4	1	35259970	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1093725	35259970	213990651	61	4529										
ZMYM6	9204	broad.mit.edu	37	chr1	35476172	35476172	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgtattcatcagagcaattCttgccacaaaacagaaacat	5	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:35476172C>A	ENST00000357182.4	-	10	1595	c.1368G>T	c.(1366-1368)aaG>aaT	p.K456N	ZMYM6_ENST00000373340.2_Missense_Mutation_p.K456N|ZMYM6_ENST00000487874.1_Missense_Mutation_p.K456N|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	456					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)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CAGAGCAATTCTTGCCACAAA	0.368																																						ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(1366-1368)aaG>aaT		zinc finger, MYM-type 6							120	116	117					1																	35476172		2203	4300	6503	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35476172C>A	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1368G>T	1.37:g.35476172C>A	ENSP00000349708:p.Lys456Asn		Somatic				ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.K456N|ZMYM6_ENST00000487874.1_Missense_Mutation_p.K456N	p.K456N	NM_007167.3	NP_009098.3	WXS	Illumina GAIIx	Phase_I	O95789	ZMYM6_HUMAN			10	1595	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	456					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.1368G>T	CCDS387.2	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658405	0.67586	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.26067	1.76;2.91	5.65	1.47	0.22746	TRASH (1);Zinc finger, MYM-type (1);	0.219056	0.47455	D	0.000225	T	0.41949	0.1181	M	0.67953	2.075	0.37706	D	0.924409	D;P;D	0.89917	0.998;0.771;1.0	D;P;D	0.83275	0.954;0.672;0.996	T	0.37911	-0.9685	10	0.56958	D	0.05	-12.8534	6.3243	0.21234	0.1302:0.6673:0.0:0.2025	.	359;456;456	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	N	456	ENSP00000362437:K456N;ENSP00000349708:K456N	ENSP00000349708:K456N	K	-	3	2	ZMYM6	35248759	0.294000	0.24380	0.823000	0.32752	0.983000	0.72400	0.298000	0.19120	0.419000	0.25927	0.650000	0.86243	AAG		0.368	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		25	59	1	0	5.35047e-06	1	5.94462e-06	25	59					A	35476172	C	A	35476172	3	1	48	1	0	0	0	0	1	0	0	0	17719	912	32	2	2637	2	ZMYM6	1	35476172	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	216202	35476172	213774449	62	4530										
ZMYM4	9202	broad.mit.edu	37	chr1	35836059	35836059	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagttccagccacagctgttCgagtttcctgttctggttgt	10	11	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:35836059C>T	ENST00000314607.6	+	7	1092	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	ZMYM4_ENST00000482131.1_3'UTR|ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.R338*	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	338					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CACAGCTGTTCGAGTTTCCTG	0.458																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(1012-1014)Cga>Tga		zinc finger, MYM-type 4							56	59	58					1																	35836059		2203	4300	6503	SO:0001587	stop_gained	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35836059C>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1012C>T	1.37:g.35836059C>T	ENSP00000322915:p.Arg338*		Somatic				ZMYM4_ENST00000482131.1_3'UTR|ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.R338*	p.R338*	NM_005095.2	NP_005086.2	WXS	Illumina GAIIx	Phase_I	Q5VZL5	ZMYM4_HUMAN			7	1092	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	338					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Nonsense_Mutation	SNP	ENST00000314607.6	37	c.1012C>T	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.961700|3.961700	0.74016|0.74016	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.143149|.	0.46442|.	D|.	0.000289|.	.|T	.|0.65709	.|0.2717	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69818	.|-0.5042	.|3	0.02654|.	T|.	1|.	-6.6526|-6.6526	14.3252|14.3252	0.66515|0.66515	0.1483:0.8517:0.0:0.0|0.1483:0.8517:0.0:0.0	.|.	.|.	.|.	.|.	X|L	338|86	.|.	ENSP00000322915:R338X|.	R|S	+|+	1|2	2|0	ZMYM4|ZMYM4	35608646|35608646	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.185000|2.185000	0.42584|0.42584	2.613000|2.613000	0.88420|0.88420	0.591000|0.591000	0.81541|0.81541	CGA|TCG		0.458	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		18	32	0	0	0	1	0	18	32					T	35836059	C	T	35836059	4	4	48	1	0	0	0	0	0	1	0	0	17717	876	31	1	1038	1	ZMYM4	1	35836059	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	359887	35836059	213414562	63	4531										
KIAA0319L	79932	broad.mit.edu	37	chr1	35972481	35972481	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatcatctgcagtttggaatTtttttaaaaacaccagcatg	6	7	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:35972481T>G	ENST00000325722.3	-	3	632	c.398A>C	c.(397-399)aAa>aCa	p.K133T		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	133						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)				AGTTTGGAATTTTTTTAAAAA	0.512																																						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.(397-399)aAa>aCa		KIAA0319-like							71	79	77					1																	35972481		2203	4300	6503	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35972481T>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.398A>C	1.37:g.35972481T>G	ENSP00000318406:p.Lys133Thr		Somatic					p.K133T	NM_024874.4	NP_079150.3	WXS	Illumina GAIIx	Phase_I	Q8IZA0	K319L_HUMAN			3	632	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	133					B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.398A>C	CCDS390.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.842004	0.32513	.	.	ENSG00000142687	ENST00000325722;ENST00000426982;ENST00000440579;ENST00000373258;ENST00000469892;ENST00000494948	T;T;T;T;T	0.61627	2.86;2.86;2.16;0.74;0.09	5.78	3.36	0.38483	.	0.391040	0.24204	N	0.040598	T	0.42877	0.1222	L	0.34521	1.04	0.09310	N	1	P;B;B	0.34724	0.465;0.335;0.002	B;B;B	0.29716	0.106;0.071;0.005	T	0.21861	-1.0233	10	0.46703	T	0.11	-1.4928	10.8846	0.46960	0.0:0.0:0.3028:0.6972	.	133;133;133	B4DYG9;B1AN14;Q8IZA0	.;.;K319L_HUMAN	T	133	ENSP00000318406:K133T;ENSP00000395883:K133T;ENSP00000407576:K133T;ENSP00000362355:K133T;ENSP00000419396:K133T	ENSP00000318406:K133T	K	-	2	0	KIAA0319L	35745068	0.995000	0.38212	0.033000	0.17914	0.226000	0.24999	2.444000	0.44890	0.402000	0.25451	0.533000	0.62120	AAA		0.512	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		34	54	0	0	0	1	0	34	54					G	35972481	T	G	35972481	3	3	48	1	0	0	0	0	1	0	0	0	8178	1841	64	4	2827	4	KIAA0319L	1	35972481	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	136422	35972481	213278140	64	4532										
CLSPN	63967	broad.mit.edu	37	chr1	36214035	36214035	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagctgaccaaactggctcGaaatagcccaggggaaggag	14	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:36214035G>A	ENST00000318121.3	-	13	2500	c.2443C>T	c.(2443-2445)Cga>Tga	p.R815*	CLSPN_ENST00000251195.5_Nonsense_Mutation_p.R815*|CLSPN_ENST00000373220.3_Nonsense_Mutation_p.R751*|CLSPN_ENST00000520551.1_Nonsense_Mutation_p.R762*	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	815					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAACTGGCTCGAAATAGCCCA	0.468																																						ENST00000251195.5																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2443-2445)Cga>Tga		claspin							126	128	127					1																	36214035		2203	4300	6503	SO:0001587	stop_gained	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36214035G>A	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"claspin homolog (Xenopus laevis)"			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.2443C>T	1.37:g.36214035G>A	ENSP00000312995:p.Arg815*		Somatic				CLSPN_ENST00000373220.3_Nonsense_Mutation_p.R751*|CLSPN_ENST00000520551.1_Nonsense_Mutation_p.R762*|CLSPN_ENST00000318121.3_Nonsense_Mutation_p.R815*	p.R815*			WXS	Illumina GAIIx	Phase_I	Q9HAW4	CLSPN_HUMAN			13	2539	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	815					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Nonsense_Mutation	SNP	ENST00000318121.3	37	c.2443C>T	CCDS396.1	.	.	.	.	.	.	.	.	.	.	G	39	7.645043	0.98409	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	.	.	.	5.71	4.74	0.60224	.	0.113287	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1713	12.0118	0.53291	0.0:0.0:0.6647:0.3353	.	.	.	.	X	815;815;751;762	.	ENSP00000251195:R815X	R	-	1	2	CLSPN	35986622	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.572000	0.45999	2.711000	0.92665	0.563000	0.77884	CGA		0.468	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		54	92	0	0	0	1	0	54	92					A	36214035	G	A	36214035	4	1	48	1	0	0	0	0	0	1	0	0	3562	1066	37	1	1628	1	CLSPN	1	36214035	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	241554	36214035	213036586	65	4533										
GRIK3	2899	broad.mit.edu	37	chr1	37325529	37325529	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacttctccacaatggccgaGacgtgtgggttgtccacatt	10	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:37325529G>A	ENST00000373091.3	-	6	892	c.876C>T	c.(874-876)gtC>gtT	p.V292V	GRIK3_ENST00000462621.1_5'Flank|GRIK3_ENST00000373093.4_Silent_p.V292V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	292					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)				CAATGGCCGAGACGTGTGGGT	0.587																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(874-876)gtC>gtT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						102	105	104					1																	37325529		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37325529G>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.876C>T	1.37:g.37325529G>A			Somatic				GRIK3_ENST00000373093.4_Silent_p.V292V	p.V292V	NM_000831.3	NP_000822.2	WXS	Illumina GAIIx	Phase_I	Q13003	GRIK3_HUMAN			6	892	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	292					A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.876C>T	CCDS416.1																																																																																				0.587	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		36	65	0	0	0	1	0	36	65					A	37325529	G	A	37325529	2	1	48	1	0	0	0	0	0	0	0	1	6784	929	33	3		3	GRIK3	1	37325529	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1111494	37325529	211925092	66	4534										
DNALI1	7802	broad.mit.edu	37	chr1	38025037	38025037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagacttaaagctgcagcagCggcaggccagggaaacaggc	14	10	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:38025037C>T	ENST00000296218.7	+	3	413	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	DNALI1_ENST00000541606.1_Intron	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	113					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)				GCTGCAGCAGCGGCAGGCCAG	0.592																																						ENST00000296218.7																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5						c.(403-405)Cgg>Tgg		dynein, axonemal, light intermediate chain 1							67	57	60					1																	38025037		2203	4300	6503	SO:0001583	missense	7802				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	g.chr1:38025037C>T	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.403C>T	1.37:g.38025037C>T	ENSP00000296218:p.Arg135Trp		Somatic				DNALI1_ENST00000541606.1_Intron	p.R135W	NM_003462.3	NP_003453.2	WXS	Illumina GAIIx	Phase_I	O14645	IDLC_HUMAN			3	413	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	113					A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Missense_Mutation	SNP	ENST00000296218.7	37	c.403C>T	CCDS420.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720871	0.68959	.	.	ENSG00000163879	ENST00000296218	T	0.54479	0.57	5.02	2.92	0.33932	.	0.151334	0.56097	D	0.000021	T	0.62672	0.2447	H	0.95745	3.715	0.80722	D	1	B	0.26081	0.141	B	0.22880	0.042	T	0.68648	-0.5353	10	0.59425	D	0.04	-16.8774	11.0439	0.47846	0.149:0.7157:0.1352:0.0	.	113	O14645	IDLC_HUMAN	W	135	ENSP00000296218:R135W	ENSP00000296218:R135W	R	+	1	2	DNALI1	37797624	0.993000	0.37304	1.000000	0.80357	0.983000	0.72400	0.387000	0.20718	1.178000	0.42870	0.563000	0.77884	CGG		0.592	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012159.1	NM_003462		21	35	0	0	0	1	0	21	35					T	38025037	C	T	38025037	3	4	48	1	0	0	0	0	1	0	0	0	4661	759	27	1	413	1	DNALI1	1	38025037	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	699508	38025037	211225584	67	4535										
GNL2	29889	broad.mit.edu	37	chr1	38034732	38034732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gattttaccaaagttctgccGaactcgtgtgagaatctgct	9	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:38034732G>A	ENST00000373062.3	-	13	1686	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	530					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.R530W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AAGTTCTGCCGAACTCGTGTG	0.468																																						ENST00000373062.3																			1	Substitution - Missense(1)	p.R530W(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1588-1590)Cgg>Tgg		guanine nucleotide binding protein-like 2 (nucleolar)							160	147	152					1																	38034732		2203	4300	6503	SO:0001583	missense	29889				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	g.chr1:38034732G>A	L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1588C>T	1.37:g.38034732G>A	ENSP00000362153:p.Arg530Trp		Somatic				GNL2_ENST00000462812.1_5'UTR	p.R530W	NM_013285.2	NP_037417.1	WXS	Illumina GAIIx	Phase_I	Q13823	NOG2_HUMAN			13	1686	-		Myeloproliferative disorder(586;0.0393)	530					Q9BWN7	Missense_Mutation	SNP	ENST00000373062.3	37	c.1588C>T	CCDS421.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571954	0.86542	.	.	ENSG00000134697	ENST00000373062	T	0.24908	1.83	6.17	6.17	0.99709	.	0.111999	0.64402	D	0.000015	T	0.50069	0.1594	M	0.61703	1.905	0.58432	D	0.999999	D	0.76494	0.999	P	0.62885	0.908	T	0.38023	-0.9680	10	0.72032	D	0.01	-16.642	20.8794	0.99867	0.0:0.0:1.0:0.0	.	530	Q13823	NOG2_HUMAN	W	530	ENSP00000362153:R530W	ENSP00000362153:R530W	R	-	1	2	GNL2	37807319	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.338000	0.59316	2.941000	0.99782	0.655000	0.94253	CGG		0.468	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012478.1	NM_013285		33	45	0	0	0	1	0	33	45					A	38034732	G	A	38034732	3	1	48	1	0	0	0	0	1	0	0	0	6544	1057	37	1	623	1	GNL2	1	38034732	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	9695	38034732	211215889	68	4536										
YRDC	79693	broad.mit.edu	37	chr1	38272619	38272619	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagccaagtcttgcataaaAgcatgatcaggaatccgaat	9	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:38272619A>C	ENST00000373044.2	-	3	538	c.534T>G	c.(532-534)gcT>gcG	p.A178A	C1orf122_ENST00000446260.2_5'Flank|C1orf122_ENST00000468084.1_5'Flank|C1orf122_ENST00000373042.4_5'Flank|C1orf122_ENST00000373043.1_5'Flank	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	178	YrdC-like. {ECO:0000255|PROSITE- ProRule:PRU00518}.				negative regulation of transport (GO:0051051)	membrane (GO:0016020)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)			lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTGCATAAAAGCATGATCAG	0.488																																						ENST00000373044.2																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.(532-534)gcT>gcG		yrdC N(6)-threonylcarbamoyltransferase domain containing							89	79	82					1																	38272619		2203	4300	6503	SO:0001819	synonymous_variant	79693				negative regulation of transport	membrane|mitochondrion		g.chr1:38272619A>C		CCDS30675.1	1p34.3	2013-09-12	2013-09-12		ENSG00000196449	ENSG00000196449			28905	protein-coding gene	gene with protein product	"ischemia/reperfusion inducible protein"	612276	"yrdC domain containing (E.coli)", "yrdC domain containing (E. coli)"			12730717	Standard	NM_024640		Approved	FLJ23476, IRIP, SUA5	uc001cca.1	Q86U90	OTTHUMG00000004318	ENST00000373044.2:c.534T>G	1.37:g.38272619A>C			Somatic					p.A178A	NM_024640.3	NP_078916.3	WXS	Illumina GAIIx	Phase_I	Q86U90	YRDC_HUMAN			3	538	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	178			YrdC-like.		Q4W4X8|Q6NVW3|Q7L4E4|Q7Z2I4|Q9H5F8	Silent	SNP	ENST00000373044.2	37	c.534T>G	CCDS30675.1																																																																																				0.488	YRDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012470.1	NM_024640		30	51	0	0	0	1	0	30	51					C	38272619	A	C	38272619	2	2	48	1	0	0	0	0	0	0	0	1	17509	59	3	4		4	YRDC	1	38272619	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	237887	38272619	210978002	69	4537										
MTF1	4520	broad.mit.edu	37	chr1	38304324	38304324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcttttcccctgtatgagttCgaatgtgcttcctcagatca	8	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:38304324C>T	ENST00000373036.4	-	4	892	c.752G>A	c.(751-753)cGa>cAa	p.R251Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	251					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)	p.R251Q(1)		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)				TGTATGAGTTCGAATGTGCTT	0.438																																						ENST00000373036.4																			1	Substitution - Missense(1)	p.R251Q(1)	large_intestine(1)	endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31						c.(751-753)cGa>cAa		metal-regulatory transcription factor 1							161	137	145					1																	38304324		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.chr1:38304324C>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.752G>A	1.37:g.38304324C>T	ENSP00000362127:p.Arg251Gln		Somatic					p.R251Q	NM_005955.2	NP_005946.2	WXS	Illumina GAIIx	Phase_I	Q14872	MTF1_HUMAN			4	892	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	251					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.752G>A	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	C	36	5.746101	0.96882	.	.	ENSG00000188786	ENST00000373036;ENST00000543396	T	0.24723	1.84	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	M	0.70903	2.155	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.55438	-0.8141	10	0.72032	D	0.01	.	19.1431	0.93452	0.0:1.0:0.0:0.0	.	251	Q14872	MTF1_HUMAN	Q	251;119	ENSP00000362127:R251Q	ENSP00000362127:R251Q	R	-	2	0	MTF1	38076911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.641000	0.83368	2.590000	0.87494	0.563000	0.77884	CGA		0.438	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		19	46	0	0	0	1	0	19	46					T	38304324	C	T	38304324	3	4	48	1	0	0	0	0	1	0	0	0	9931	884	31	1	1541	1	MTF1	1	38304324	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	31705	38304324	210946297	70	4538										
GJA9	81025	broad.mit.edu	37	chr1	39340703	39340703	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttaagttcttttccaaatatTttatgagtgtctttgttatt	5	4	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39340703T>C	ENST00000360786.3	-	1	1320	c.1068A>G	c.(1066-1068)aaA>aaG	p.K356K	MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000454994.2_Silent_p.K356K|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000357771.3_Silent_p.K356K			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	356					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TTCCAAATATTTTATGAGTGT	0.338																																						ENST00000454994.2																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1066-1068)aaA>aaG		gap junction protein, alpha 9, 59kDa							111	113	112					1																	39340703		2203	4300	6503	SO:0001819	synonymous_variant	81025				cell communication	connexon complex|integral to membrane		g.chr1:39340703T>C	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"Ion channels / Gap junction proteins (connexins)"	19155	protein-coding gene	gene with protein product	"connexin 59"	611923	"gap junction protein, alpha 10, 59kDa"	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1068A>G	1.37:g.39340703T>C			Somatic				GJA9_ENST00000360786.3_Silent_p.K356K|RP5-864K19.4_ENST00000443161.1_RNA|MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000357771.3_Silent_p.K356K|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA	p.K356K			WXS	Illumina GAIIx	Phase_I	P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	1344	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	356					B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000360786.3	37	c.1068A>G	CCDS432.1																																																																																				0.338	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		11	33	0	0	0	1	0	11	33					C	39340703	T	C	39340703	2	2	48	1	0	0	0	0	0	0	0	1	6414	1838	64	4		4	GJA9	1	39340703	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1036379	39340703	209909918	71	4539										
RHBDL2	54933	broad.mit.edu	37	chr1	39358897	39358897	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaatcatttcttgaaaattCttaaaaagagataaataata	5	3	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39358897C>A	ENST00000289248.2	-	6	1618		c.e6-1		RHBDL2_ENST00000538156.1_Splice_Site|RHBDL2_ENST00000372990.1_Splice_Site|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Splice_Site			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CTTGAAAATTCTTAAAAAGAG	0.323																																						ENST00000289248.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8						c.e6-1		rhomboid, veinlet-like 2 (Drosophila)							24	25	25					1																	39358897		2191	4289	6480	SO:0001630	splice_region_variant	54933				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr1:39358897C>A	AK000442	CCDS30680.1	1p35.1	2014-01-28	2001-11-28		ENSG00000158315	ENSG00000158315			16083	protein-coding gene	gene with protein product		608962	"rhomboid (veinlet, Drosophila)-like 2"				Standard	NM_017821		Approved	FLJ20435	uc001ccu.1	Q9NX52	OTTHUMG00000000487	ENST00000289248.2:c.610-1G>T	1.37:g.39358897C>A			Somatic				RHBDL2_ENST00000538156.1_Splice_Site|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Splice_Site|RHBDL2_ENST00000372990.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9NX52	RHBL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		6	1618	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)						B2RNT3|B9EH75|Q6P175|Q8NER8|Q96E02	Splice_Site	SNP	ENST00000289248.2	37		CCDS30680.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025278	0.75390	.	.	ENSG00000158315	ENST00000372990;ENST00000289248;ENST00000538156;ENST00000372985	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3669	0.90394	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RHBDL2	39131484	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.177000	0.71961	2.698000	0.92095	0.655000	0.94253	.		0.323	RHBDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001216.1	NM_017821	Intron	7	21	1	0	0.00198382	1	0.00207034	7	21					A	39358897	C	A	39358897	5	1	48	1	0	0	0	0	0	0	1	0	13337	927	32	2	314	2	RHBDL2	1	39358897	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	18194	39358897	209891724	72	4540										
MACF1	23499	broad.mit.edu	37	chr1	39798397	39798397	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcctgagttccagttttcttCtcagaacaaagaatatcccg	7	11	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39798397C>A	ENST00000372915.3	+	36	6239	c.6152C>A	c.(6151-6153)tCt>tAt	p.S2051Y	MACF1_ENST00000289893.4_Missense_Mutation_p.S486Y|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S2083Y|MACF1_ENST00000564288.1_Missense_Mutation_p.S2046Y|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2051					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)			CAGTTTTCTTCTCAGAACAAA	0.433																																						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.(6136-6138)tCt>tAt		microtubule-actin crosslinking factor 1							73	75	74					1																	39798397		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.chr1:39798397C>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.6152C>A	1.37:g.39798397C>A	ENSP00000362006:p.Ser2051Tyr		Somatic				MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.S2051Y|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S486Y|MACF1_ENST00000567887.1_Missense_Mutation_p.S2083Y	p.S2046Y			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	6914	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2051					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.6137C>A		.	.	.	.	.	.	.	.	.	.	C	4.481	0.089145	0.08583	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.65364	-0.15;0.89	5.78	3.9	0.45041	.	0.304601	0.25668	N	0.029095	T	0.43942	0.1270	N	0.19112	0.55	0.09310	N	0.999996	B	0.26318	0.146	B	0.21360	0.034	T	0.36359	-0.9751	10	0.44086	T	0.13	.	10.0895	0.42439	0.0:0.7362:0.0:0.2638	.	2051	Q9UPN3	MACF1_HUMAN	Y	2051;486	ENSP00000362006:S2051Y;ENSP00000289893:S486Y	ENSP00000289893:S486Y	S	+	2	0	MACF1	39570984	0.000000	0.05858	0.914000	0.36105	0.900000	0.52787	0.156000	0.16382	1.455000	0.47813	0.555000	0.69702	TCT		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		18	59	1	0	5.01169e-05	1	5.45927e-05	18	59					A	39798397	C	A	39798397	3	1	48	1	0	0	0	0	1	0	0	0	9153	913	32	2	6228	2	MACF1	1	39798397	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	439500	39798397	209452224	73	4541										
MACF1	23499	broad.mit.edu	37	chr1	39800329	39800329	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctagaagcccaggcaaataCtggtggaatcatagatactg	10	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39800329C>G	ENST00000372915.3	+	36	8171	c.8084C>G	c.(8083-8085)aCt>aGt	p.T2695S	MACF1_ENST00000289893.4_Missense_Mutation_p.T1130S|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.T2727S|MACF1_ENST00000564288.1_Missense_Mutation_p.T2690S|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2695					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)			CAGGCAAATACTGGTGGAATC	0.428																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(8068-8070)aCt>aGt		microtubule-actin crosslinking factor 1							47	48	48					1																	39800329		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.chr1:39800329C>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.8084C>G	1.37:g.39800329C>G	ENSP00000362006:p.Thr2695Ser		Somatic				MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.T2695S|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.T1130S|MACF1_ENST00000567887.1_Missense_Mutation_p.T2727S	p.T2690S			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	8846	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2695					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.8069C>G		.	.	.	.	.	.	.	.	.	.	C	4.573	0.106464	0.08780	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	D;D	0.82167	-1.58;-1.58	5.07	3.2	0.36748	.	1.106060	0.06853	N	0.797749	T	0.76364	0.3977	N	0.21545	0.675	0.80722	D	1	B	0.20887	0.049	B	0.19148	0.024	T	0.53975	-0.8362	10	0.26408	T	0.33	.	16.5893	0.84761	0.0:0.4917:0.5083:0.0	.	2695	Q9UPN3	MACF1_HUMAN	S	2695;1130	ENSP00000362006:T2695S;ENSP00000289893:T1130S	ENSP00000289893:T1130S	T	+	2	0	MACF1	39572916	0.037000	0.19845	1.000000	0.80357	0.913000	0.54294	0.076000	0.14712	0.731000	0.32448	-1.113000	0.02065	ACT		0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		18	24	0	0	0	1	0	18	24					G	39800329	C	G	39800329	3	3	48	1	0	0	0	0	1	0	0	0	9153	565	20	5	8160	5	MACF1	1	39800329	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1932	39800329	209450292	74	4542										
MACF1	23499	broad.mit.edu	37	chr1	39801373	39801373	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaaatgggattttctattaCttttaaaattgaagagtcct	7	4	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39801373C>A	ENST00000372915.3	+	36	9215	c.9128C>A	c.(9127-9129)aCt>aAt	p.T3043N	MACF1_ENST00000289893.4_Missense_Mutation_p.T1478N|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.T3075N|MACF1_ENST00000564288.1_Missense_Mutation_p.T3038N|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3043					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)			TTTTCTATTACTTTTAAAATT	0.373																																						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.(9112-9114)aCt>aAt		microtubule-actin crosslinking factor 1							47	51	50					1																	39801373		2202	4299	6501	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.chr1:39801373C>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.9128C>A	1.37:g.39801373C>A	ENSP00000362006:p.Thr3043Asn		Somatic				MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.T3043N|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.T1478N|MACF1_ENST00000567887.1_Missense_Mutation_p.T3075N	p.T3038N			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	9890	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3043					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.9113C>A		.	.	.	.	.	.	.	.	.	.	C	0.306	-0.970670	0.02232	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.61510	0.1;1.18	5.23	-5.14	0.02875	.	1.803620	0.02858	N	0.129869	T	0.42921	0.1224	N	0.14661	0.345	0.09310	N	1	B	0.23735	0.09	B	0.23574	0.047	T	0.46748	-0.9169	10	0.72032	D	0.01	.	13.9243	0.63952	0.0:0.69:0.0:0.31	.	3043	Q9UPN3	MACF1_HUMAN	N	3043;1478	ENSP00000362006:T3043N;ENSP00000289893:T1478N	ENSP00000289893:T1478N	T	+	2	0	MACF1	39573960	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.567000	0.05916	-0.778000	0.04566	-1.583000	0.00853	ACT		0.373	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		18	36	1	0	1.02788e-11	1	1.28326e-11	18	36					A	39801373	C	A	39801373	3	1	48	1	0	0	0	0	1	0	0	0	9153	565	20	5	9204	5	MACF1	1	39801373	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1044	39801373	209449248	75	4543										
KIAA0754	643314	broad.mit.edu	37	chr1	39878370	39878370	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcctaaatatttttccagaGaaacaagttaccaaggctgg	7	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39878370G>T	ENST00000530275.1	+	1	2220	c.2025G>T	c.(2023-2025)gaG>gaT	p.E675D	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	675										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)			TTTTTCCAGAGAAACAAGTTA	0.453																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(2023-2025)gaG>gaT		KIAA0754							42	43	43					1																	39878370		1873	4106	5979	SO:0001583	missense	643314							g.chr1:39878370G>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.2025G>T	1.37:g.39878370G>T	ENSP00000431179:p.Glu675Asp		Somatic				MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron	p.E675D	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	2220	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	675					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.2025G>T		.	.	.	.	.	.	.	.	.	.	G	13.69	2.313399	0.40996	.	.	ENSG00000255103	ENST00000530275	T	0.27256	1.68	4.51	2.54	0.30619	.	.	.	.	.	T	0.16514	0.0397	N	0.24115	0.695	0.09310	N	1	B	0.23540	0.087	B	0.22601	0.04	T	0.19095	-1.0316	9	0.66056	D	0.02	.	6.5434	0.22392	0.1023:0.1824:0.7153:0.0	.	675	O94854	K0754_HUMAN	D	675	ENSP00000431179:E675D	ENSP00000431179:E675D	E	+	3	2	RP4-562N20.1	39650957	0.995000	0.38212	0.978000	0.43139	0.045000	0.14185	1.039000	0.30266	1.107000	0.41642	0.561000	0.74099	GAG		0.453	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		6	38	1	0	0.0215528	1	0.0219788	6	38					T	39878370	G	T	39878370	3	4	48	1	0	0	0	0	1	0	0	0	8201	933	33	2	2435	2	KIAA0754	1	39878370	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	76997	39878370	209372251	76	4544										
NT5C1A	84618	broad.mit.edu	37	chr1	40131262	40131262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttagtcatgaggacgatgtCgaagacgtcctcactatcag	11	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40131262C>T	ENST00000235628.1	-	3	363	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	122					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGGACGATGTCGAAGACGTCC	0.577																																						ENST00000235628.1																			0				breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15						c.(364-366)Gac>Aac		5'-nucleotidase, cytosolic IA							127	101	110					1																	40131262		2203	4300	6503	SO:0001583	missense	84618				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr1:40131262C>T	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"cytosolic 5' nucleotidase, type 1A", "AMP-specific 5'-NT", "cytosolic 5'-nucleotidase IA"	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.364G>A	1.37:g.40131262C>T	ENSP00000235628:p.Asp122Asn		Somatic					p.D122N	NM_032526.1	NP_115915.1	WXS	Illumina GAIIx	Phase_I	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		3	363	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	122					Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	c.364G>A	CCDS440.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989034	0.93106	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.84338	0.5450	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	D	0.86915	0.2063	9	0.87932	D	0	-1.4397	19.2929	0.94110	0.0:1.0:0.0:0.0	.	122	Q9BXI3	5NT1A_HUMAN	N	122	.	ENSP00000235628:D122N	D	-	1	0	NT5C1A	39903849	1.000000	0.71417	0.959000	0.39883	0.444000	0.32077	7.810000	0.86072	2.636000	0.89361	0.655000	0.94253	GAC		0.577	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		12	27	0	0	0	1	0	12	27					T	40131262	C	T	40131262	3	4	48	1	0	0	0	0	1	0	0	0	10694	884	31	1	758	1	NT5C1A	1	40131262	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	252892	40131262	209119359	77	4545										
PPIE	10450	broad.mit.edu	37	chr1	40207070	40207070	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatttgcttttgttgaatttGagttggcagaggtgagagtc	14	3	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40207070G>T	ENST00000324379.5	+	3	182	c.163G>T	c.(163-165)Gag>Tag	p.E55*	PPIE_ENST00000480169.1_3'UTR|PPIE_ENST00000356511.2_Nonsense_Mutation_p.E55*|PPIE_ENST00000470213.1_Nonsense_Mutation_p.E55*|PPIE_ENST00000372830.1_Nonsense_Mutation_p.E55*	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	55	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGTTGAATTTGAGTTGGCAGA	0.383																																						ENST00000324379.5																			0				kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9						c.(163-165)Gag>Tag		peptidylprolyl isomerase E (cyclophilin E)							271	237	248					1																	40207070		2203	4300	6503	SO:0001587	stop_gained	10450				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding	g.chr1:40207070G>T	AF042385	CCDS442.1, CCDS443.1, CCDS53299.1	1p32	2013-02-12			ENSG00000084072	ENSG00000084072		"RNA binding motif (RRM) containing"	9258	protein-coding gene	gene with protein product	"peptidyl-prolyl cis-trans isomerase E", "cyclophilin 33", "cyclophilin E", "PPIase E", "rotamase E", "peptidylprolyl isomerase E, isoform 1"	602435				9747881	Standard	NM_203456		Approved	CyP-33, MGC3736, MGC111222	uc001cdw.3	Q9UNP9	OTTHUMG00000009248	ENST00000324379.5:c.163G>T	1.37:g.40207070G>T	ENSP00000312769:p.Glu55*		Somatic				PPIE_ENST00000480169.1_3'UTR|PPIE_ENST00000372830.1_Nonsense_Mutation_p.E55*|PPIE_ENST00000356511.2_Nonsense_Mutation_p.E55*|PPIE_ENST00000470213.1_Nonsense_Mutation_p.E55*	p.E55*	NM_006112.3	NP_006103.1	WXS	Illumina GAIIx	Phase_I	Q9UNP9	PPIE_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		3	182	+	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	55			RRM.		B2R971|O43634|O43635|Q32Q72|Q3S611|Q5TGA0|Q5TGA2|Q5TGA3|Q9UIZ5	Nonsense_Mutation	SNP	ENST00000324379.5	37	c.163G>T	CCDS443.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947846	0.92593	.	.	ENSG00000084072	ENST00000324379;ENST00000356511;ENST00000470213;ENST00000372830	.	.	.	5.0	4.08	0.47627	.	0.056021	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-34.5006	15.2257	0.73348	0.0:0.1412:0.8588:0.0	.	.	.	.	X	55	.	ENSP00000312769:E55X	E	+	1	0	PPIE	39979657	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.620000	0.90943	1.336000	0.45506	0.561000	0.74099	GAG		0.383	PPIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025642.2	NM_006112		23	36	1	0	9.04412e-07	1	1.02139e-06	23	36					T	40207070	G	T	40207070	4	4	48	1	0	0	0	0	0	1	0	0	12334	1291	45	2	173	2	PPIE	1	40207070	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	75808	40207070	209043551	78	4546										
TRIT1	54802	broad.mit.edu	37	chr1	40319675	40319675	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaactttccagagcagagaTtcaatgtaataattggttcc	8	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40319675T>G	ENST00000316891.5	-	3	395	c.381A>C	c.(379-381)gaA>gaC	p.E127D	TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000544981.1_Missense_Mutation_p.E127D|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.E127D|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000537223.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	127					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)			AGAGCAGAGATTCAATGTAAT	0.363																																						ENST00000316891.5																			0				breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15						c.(379-381)gaA>gaC		tRNA isopentenyltransferase 1							127	123	124					1																	40319675		2203	4300	6503	SO:0001583	missense	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40319675T>G	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.381A>C	1.37:g.40319675T>G	ENSP00000321810:p.Glu127Asp		Somatic				TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000544981.1_Missense_Mutation_p.E127D|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.E127D	p.E127D	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)		3	395	-	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)	127					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	c.381A>C	CCDS30681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.36|19.36	3.813455|3.813455	0.70912|0.70912	.|.	.|.	ENSG00000043514|ENSG00000043514	ENST00000046894;ENST00000316891;ENST00000372818;ENST00000544981|ENST00000534869	T;T;T|.	0.42900|.	0.96;0.96;0.96|.	5.48|5.48	-5.59|-5.59	0.02505|0.02505	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64193|0.64193	0.2576|0.2576	L|L	0.58669|0.58669	1.825|1.825	0.58432|0.58432	D|D	0.999997|0.999997	B|.	0.32862|.	0.387|.	P|.	0.45276|.	0.475|.	T|T	0.65726|0.65726	-0.6098|-0.6098	10|6	0.49607|0.27785	T|T	0.09|0.31	-18.5605|-18.5605	15.8988|15.8988	0.79356|0.79356	0.0:0.4228:0.0:0.5772|0.0:0.4228:0.0:0.5772	.|.	127|.	Q9H3H1|.	MOD5_HUMAN|.	D|T	127|69	ENSP00000321810:E127D;ENSP00000361905:E127D;ENSP00000442765:E127D|.	ENSP00000046894:E127D|ENSP00000444187:N69T	E|N	-|-	3|2	2|0	TRIT1|TRIT1	40092262|40092262	0.227000|0.227000	0.23707|0.23707	0.690000|0.690000	0.30148|0.30148	0.991000|0.991000	0.79684|0.79684	-0.289000|-0.289000	0.08365|0.08365	-1.015000|-1.015000	0.03375|0.03375	-0.376000|-0.376000	0.06991|0.06991	GAA|AAT		0.363	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		18	40	0	0	0	1	0	18	40					G	40319675	T	G	40319675	3	3	48	1	0	0	0	0	1	0	0	0	16575	1490	52	4	1058	4	TRIT1	1	40319675	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	112605	40319675	208930946	79	4547										
RLF	6018	broad.mit.edu	37	chr1	40701803	40701803	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggactggaaaactttaaaaCgacactgccaccaactttta	7	10	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40701803C>T	ENST00000372771.4	+	8	1456	c.1429C>T	c.(1429-1431)Cga>Tga	p.R477*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	477					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)			AACTTTAAAACGACACTGCCA	0.398																																						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.(1429-1431)Cga>Tga		rearranged L-myc fusion							63	68	66					1																	40701803		2203	4300	6503	SO:0001587	stop_gained	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40701803C>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.1429C>T	1.37:g.40701803C>T	ENSP00000361857:p.Arg477*		Somatic					p.R477*	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)		8	1456	+	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)	477					Q14CQ1|Q9NU60	Nonsense_Mutation	SNP	ENST00000372771.4	37	c.1429C>T	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840032	0.91117	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	.	.	.	6.07	5.15	0.70609	.	0.117017	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1225	16.6867	0.85310	0.1306:0.8694:0.0:0.0	.	.	.	.	X	477;170	.	ENSP00000361857:R477X	R	+	1	2	RLF	40474390	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	2.484000	0.45242	1.534000	0.49203	0.655000	0.94253	CGA		0.398	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		33	52	0	0	0	1	0	33	52					T	40701803	C	T	40701803	4	4	48	1	0	0	0	0	0	1	0	0	13404	528	19	1	1459	1	RLF	1	40701803	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	382128	40701803	208548818	80	4548										
RLF	6018	broad.mit.edu	37	chr1	40705776	40705776	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcacttaacattaagtaattCttcacagtccagtaatgatt	5	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40705776C>A	ENST00000372771.4	+	8	5429	c.5402C>A	c.(5401-5403)tCt>tAt	p.S1801Y		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1801					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)			TTAAGTAATTCTTCACAGTCC	0.358																																						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.(5401-5403)tCt>tAt		rearranged L-myc fusion							93	92	92					1																	40705776		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.chr1:40705776C>A		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.5402C>A	1.37:g.40705776C>A	ENSP00000361857:p.Ser1801Tyr		Somatic					p.S1801Y	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)		8	5429	+	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)	1801					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.5402C>A	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572816	0.28092	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.16196	2.36	5.35	5.35	0.76521	.	0.174682	0.51477	D	0.000091	T	0.27241	0.0668	L	0.34521	1.04	0.43688	D	0.996138	D;P	0.54964	0.969;0.947	P;P	0.54100	0.742;0.556	T	0.00546	-1.1678	10	0.87932	D	0	-14.5093	19.6142	0.95626	0.0:1.0:0.0:0.0	.	1494;1801	F5H2M5;Q13129	.;RLF_HUMAN	Y	1801;1494	ENSP00000361857:S1801Y	ENSP00000361857:S1801Y	S	+	2	0	RLF	40478363	0.013000	0.17824	1.000000	0.80357	0.915000	0.54546	0.535000	0.23114	2.941000	0.99782	0.655000	0.94253	TCT		0.358	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		39	48	1	0	4.92203e-23	1	6.86763e-23	39	48					A	40705776	C	A	40705776	3	1	48	1	0	0	0	0	1	0	0	0	13404	913	32	2	5432	2	RLF	1	40705776	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3973	40705776	208544845	81	4549										
TMCO2	127391	broad.mit.edu	37	chr1	40717052	40717052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccagaaggaagtggtctccGaattcaagacaataataatc	8	9	2	2	rs200048000		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40717052G>A	ENST00000372766.3	+	2	428	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	112						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R112Q(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	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;6.3e-18)			AGTGGTCTCCGAATTCAAGAC	0.368													G|||	1	0.000199681	8e-04	0	5008	,	,		17495	0		0	False		,,,				2504	0					ENST00000372766.3																			1	Substitution - Missense(1)	p.R112Q(1)	large_intestine(1)	kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6						c.(334-336)cGa>cAa		transmembrane and coiled-coil domains 2							83	86	85					1																	40717052		2203	4300	6503	SO:0001583	missense	127391					integral to membrane		g.chr1:40717052G>A	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.335G>A	1.37:g.40717052G>A	ENSP00000361852:p.Arg112Gln		Somatic				TMCO2_ENST00000468258.1_3'UTR	p.R112Q	NM_001008740.3	NP_001008740.1	WXS	Illumina GAIIx	Phase_I	Q7Z6W1	TMCO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		2	428	+	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)	112						Missense_Mutation	SNP	ENST00000372766.3	37	c.335G>A	CCDS30684.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	1.983	-0.433700	0.04669	.	.	ENSG00000188800	ENST00000372766	.	.	.	4.81	0.0836	0.14434	.	1.131500	0.06539	N	0.742880	T	0.13500	0.0327	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28650	-1.0037	9	0.13108	T	0.6	-8.0E-4	6.1082	0.20086	0.5586:0.3058:0.1357:0.0	.	112	Q7Z6W1	TMCO2_HUMAN	Q	112	.	ENSP00000361852:R112Q	R	+	2	0	TMCO2	40489639	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	0.023000	0.13533	0.558000	0.29135	-0.451000	0.05528	CGA		0.368	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	NM_001008740		28	44	0	0	0	1	0	28	44					A	40717052	G	A	40717052	3	1	48	1	0	0	0	0	1	0	0	0	16011	1058	37	1	341	1	TMCO2	1	40717052	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	11276	40717052	208533569	82	4550										
COL9A2	1298	broad.mit.edu	37	chr1	40775941	40775941	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaagattcacttaccgtctCtcccttgggccctgccatgc	7	17	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40775941C>T	ENST00000372748.3	-	14	829	c.733G>A	c.(733-735)Gag>Aag	p.E245K		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	245	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)			CTTACCGTCTCTCCCTTGGGC	0.562																																						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.(733-735)Gag>Aag		collagen, type IX, alpha 2							78	71	74					1																	40775941		2203	4300	6503	SO:0001583	missense	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40775941C>T	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.733G>A	1.37:g.40775941C>T	ENSP00000361834:p.Glu245Lys		Somatic					p.E245K	NM_001852.3	NP_001843.1	WXS	Illumina GAIIx	Phase_I	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		14	829	-	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)	245			Triple-helical region 3 (COL3).		B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.733G>A	CCDS450.1	.	.	.	.	.	.	.	.	.	.	.	16.85	3.236279	0.58886	.	.	ENSG00000049089	ENST00000372748	D	0.94184	-3.37	4.67	4.67	0.58626	.	0.108239	0.64402	D	0.000008	D	0.95294	0.8473	M	0.72576	2.205	0.58432	D	0.999993	D	0.63880	0.993	D	0.70935	0.971	D	0.93438	0.6791	10	0.16896	T	0.51	.	13.1595	0.59537	0.0:1.0:0.0:0.0	.	245	Q14055	CO9A2_HUMAN	K	245	ENSP00000361834:E245K	ENSP00000361834:E245K	E	-	1	0	COL9A2	40548528	1.000000	0.71417	0.993000	0.49108	0.628000	0.37860	4.142000	0.58044	2.170000	0.68504	0.558000	0.71614	GAG		0.562	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		5	69	0	0	0	1	0	5	69					T	40775941	C	T	40775941	3	4	48	1	0	0	0	0	1	0	0	0	3710	922	32	3	1412	3	COL9A2	1	40775941	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	58889	40775941	208474680	83	4551										
SCMH1	22955	broad.mit.edu	37	chr1	41541092	41541092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcttctcagtattcacatcGgaggcaggatagggattctt	12	8	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:41541092G>A	ENST00000326197.7	-	8	1046	c.747C>T	c.(745-747)tcC>tcT	p.S249S	SCMH1_ENST00000456518.2_Silent_p.S91S|SCMH1_ENST00000361191.5_Silent_p.S188S|SCMH1_ENST00000397171.2_Silent_p.S188S|SCMH1_ENST00000337495.5_Silent_p.S259S|SCMH1_ENST00000361705.3_Silent_p.S202S|SCMH1_ENST00000402904.2_Silent_p.S249S|SCMH1_ENST00000372597.1_Silent_p.S202S|SCMH1_ENST00000372596.1_Silent_p.S188S|SCMH1_ENST00000397174.2_Silent_p.S229S|SCMH1_ENST00000372595.1_Silent_p.S188S					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)				TATTCACATCGGAGGCAGGAT	0.512																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(745-747)tcC>tcT		sex comb on midleg homolog 1 (Drosophila)							87	84	85					1																	41541092		2203	4300	6503	SO:0001819	synonymous_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.chr1:41541092G>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.747C>T	1.37:g.41541092G>A			Somatic				SCMH1_ENST00000372597.1_Silent_p.S202S|SCMH1_ENST00000361191.5_Silent_p.S188S|SCMH1_ENST00000337495.5_Silent_p.S259S|SCMH1_ENST00000326197.7_Silent_p.S249S|SCMH1_ENST00000372596.1_Silent_p.S188S|SCMH1_ENST00000456518.2_Silent_p.S91S|SCMH1_ENST00000397171.2_Silent_p.S188S|SCMH1_ENST00000397174.2_Silent_p.S229S|SCMH1_ENST00000372595.1_Silent_p.S188S|SCMH1_ENST00000361705.3_Silent_p.S202S	p.S249S	NM_001031694.2	NP_001026864.1	WXS	Illumina GAIIx	Phase_I	Q96GD3	SCMH1_HUMAN			9	1115	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	249						Silent	SNP	ENST00000326197.7	37	c.747C>T	CCDS30688.1																																																																																				0.512	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			32	49	0	0	0	1	0	32	49					A	41541092	G	A	41541092	2	1	48	1	0	0	0	0	0	0	0	1	13923	1103	39	1		1	SCMH1	1	41541092	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	765151	41541092	207709529	84	4552										
FOXJ3	22887	broad.mit.edu	37	chr1	42744276	42744276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcatcagatttttggatggCtgctctcatggtgagctgtg	13	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:42744276C>T	ENST00000372572.1	-	5	423	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	FOXJ3_ENST00000361776.1_Missense_Mutation_p.A38T|FOXJ3_ENST00000372573.1_Missense_Mutation_p.A38T|FOXJ3_ENST00000545068.1_Missense_Mutation_p.A38T|FOXJ3_ENST00000361346.1_Missense_Mutation_p.A38T	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	38					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)				TTTTGGATGGCTGCTCTCATG	0.433																																						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.(112-114)Gcc>Acc		forkhead box J3							175	166	169					1																	42744276		2203	4300	6503	SO:0001583	missense	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.chr1:42744276C>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.112G>A	1.37:g.42744276C>T	ENSP00000361653:p.Ala38Thr		Somatic				FOXJ3_ENST00000361346.1_Missense_Mutation_p.A38T|FOXJ3_ENST00000361776.1_Missense_Mutation_p.A38T|FOXJ3_ENST00000372573.1_Missense_Mutation_p.A38T|FOXJ3_ENST00000545068.1_Missense_Mutation_p.A38T	p.A38T	NM_001198851.1	NP_001185780.1	WXS	Illumina GAIIx	Phase_I	Q9UPW0	FOXJ3_HUMAN			5	423	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	38					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	c.112G>A	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608582	0.28623	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886	D;D;D;D;D;D	0.93906	-3.3;-3.3;-3.3;-3.15;-3.3;-3.31	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000001	D	0.91958	0.7453	N	0.19112	0.55	0.80722	D	1	B;D	0.76494	0.383;0.999	B;D	0.63793	0.316;0.918	D	0.87326	0.2321	10	0.05351	T	0.99	.	17.5103	0.87758	0.0:1.0:0.0:0.0	.	38;38	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	T	38	ENSP00000361654:A38T;ENSP00000361653:A38T;ENSP00000354620:A38T;ENSP00000354449:A38T;ENSP00000439044:A38T;ENSP00000393408:A38T	ENSP00000354620:A38T	A	-	1	0	FOXJ3	42516863	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.639000	0.67868	2.736000	0.93811	0.557000	0.71058	GCC		0.433	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		8	115	0	0	0	1	0	8	115					T	42744276	C	T	42744276	3	4	48	1	0	0	0	0	1	0	0	0	6021	797	28	3	1800	3	FOXJ3	1	42744276	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1203184	42744276	206506345	85	4553										
RIMKLA	284716	broad.mit.edu	37	chr1	42875737	42875737	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacgatgtgccctacctgttCcagaagtacgtgaaggagtc	11	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:42875737C>T	ENST00000431473.3	+	4	693	c.564C>T	c.(562-564)ttC>ttT	p.F188F		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	188	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCTACCTGTTCCAGAAGTACG	0.512																																						ENST00000431473.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(562-564)ttC>ttT		ribosomal modification protein rimK-like family member A							167	161	163					1																	42875737		2203	4300	6503	SO:0001819	synonymous_variant	284716				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr1:42875737C>T	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"N-acetylaspartylglutamate synthetase II"		"family with sequence similarity 80, member A"	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.564C>T	1.37:g.42875737C>T			Somatic					p.F188F	NM_173642.3	NP_775913.2	WXS	Illumina GAIIx	Phase_I	Q8IXN7	RIMKA_HUMAN			4	693	+			188			ATP-grasp.		Q5VUS5	Silent	SNP	ENST00000431473.3	37	c.564C>T	CCDS466.2																																																																																				0.512	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		7	119	0	0	0	1	0	7	119					T	42875737	C	T	42875737	2	4	48	1	0	0	0	0	0	0	0	1	13380	854	30	3		3	RIMKLA	1	42875737	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	131461	42875737	206374884	86	4554										
CCDC30	728621	broad.mit.edu	37	chr1	43031966	43031966	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttttaaaatgtttgctttaGcatccatcatctggagaaaa	6	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:43031966G>T	ENST00000340612.4	+	5	675		c.e5-1		CCDC30_ENST00000507855.1_Splice_Site|CCDC30_ENST00000390640.4_Splice_Site|RNU6-536P_ENST00000363384.1_RNA|CCDC30_ENST00000342022.4_Splice_Site|CCDC30_ENST00000428554.2_Splice_Site			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30							extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GTTTGCTTTAGCATCCATCAT	0.383																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.e13-1		coiled-coil domain containing 30							42	42	42					1																	43031966		2203	4298	6501	SO:0001630	splice_region_variant	728621							g.chr1:43031966G>T	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.676-1G>T	1.37:g.43031966G>T			Somatic				CCDC30_ENST00000507855.1_Splice_Site|CCDC30_ENST00000342022.4_Splice_Site|CCDC30_ENST00000340612.4_Splice_Site|CCDC30_ENST00000390640.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q5VVM6	CCD30_HUMAN			13	1818	+								Q14F06|Q5VVM5	Splice_Site	SNP	ENST00000340612.4	37		CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072186	0.36566	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3305	0.87262	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC30	42804553	0.997000	0.39634	0.945000	0.38365	0.196000	0.23810	3.943000	0.56621	2.769000	0.95229	0.655000	0.94253	.		0.383	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030	Intron	9	10	1	0	2.52707e-12	1	3.18246e-12	9	10					T	43031966	G	T	43031966	5	4	48	1	0	0	0	0	0	0	1	0	2807	985	34	5	693	5	CCDC30	1	43031966	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	156229	43031966	206218655	87	4555										
CCDC30	728621	broad.mit.edu	37	chr1	43076678	43076678	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcaaccaggaattgtcagaGaagctatctaagctacagca	9	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:43076678G>T	ENST00000340612.4	+	9	1413	c.1413G>T	c.(1411-1413)gaG>gaT	p.E471D	CCDC30_ENST00000507855.1_Missense_Mutation_p.E260D|CCDC30_ENST00000390640.4_Missense_Mutation_p.E260D|CCDC30_ENST00000342022.4_Missense_Mutation_p.E471D|CCDC30_ENST00000428554.2_Missense_Mutation_p.E471D			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	471						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AATTGTCAGAGAAGCTATCTA	0.368																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(1411-1413)gaG>gaT		coiled-coil domain containing 30							114	107	109					1																	43076678		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43076678G>T	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1413G>T	1.37:g.43076678G>T	ENSP00000340378:p.Glu471Asp		Somatic				CCDC30_ENST00000507855.1_Missense_Mutation_p.E260D|CCDC30_ENST00000342022.4_Missense_Mutation_p.E471D|CCDC30_ENST00000340612.4_Missense_Mutation_p.E471D|CCDC30_ENST00000390640.4_Missense_Mutation_p.E260D	p.E471D			WXS	Illumina GAIIx	Phase_I	Q5VVM6	CCD30_HUMAN			17	2556	+			471					Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.1413G>T	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.224599	0.39300	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.68	0.488	0.16848	.	0.293752	0.37304	N	0.002146	T	0.50377	0.1612	M	0.72894	2.215	0.27788	N	0.942919	P;D	0.57571	0.872;0.98	P;P	0.54856	0.495;0.762	T	0.42565	-0.9444	10	0.30854	T	0.27	.	4.3304	0.11060	0.3669:0.1604:0.4728:0.0	.	471;260	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	D	471;260;471;471;260	ENSP00000397035:E471D;ENSP00000426711:E260D;ENSP00000340378:E471D;ENSP00000339280:E471D;ENSP00000375051:E260D	ENSP00000340378:E471D	E	+	3	2	CCDC30	42849265	1.000000	0.71417	0.889000	0.34880	0.005000	0.04900	0.526000	0.22971	0.042000	0.15717	-0.251000	0.11542	GAG		0.368	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		15	44	1	0	7.93312e-07	1	8.98086e-07	15	44					T	43076678	G	T	43076678	3	4	48	1	0	0	0	0	1	0	0	0	2807	933	33	2	1447	2	CCDC30	1	43076678	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	44712	43076678	206173943	88	4556										
CLDN19	149461	broad.mit.edu	37	chr1	43205521	43205521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggggcctaccgtccagggCgagcagcgagtcgtagagct	16	12	0	1	rs571067526		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:43205521C>T	ENST00000296387.1	-	1	404	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	CLDN19_ENST00000372539.3_Missense_Mutation_p.A72T|CLDN19_ENST00000539749.1_Missense_Mutation_p.A72T	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	72					apical junction assembly (GO:0043297)|calcium-independent cell-cell adhesion (GO:0016338)|neuronal action potential propagation (GO:0019227)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	apical junction complex (GO:0043296)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCGTCCAGGGCGAGCAGCGAG	0.637																																						ENST00000539749.1																			0				breast(2)|large_intestine(1)|lung(2)|skin(1)	6						c.(214-216)Gcc>Acc		claudin 19							27	23	24					1																	43205521		2203	4299	6502	SO:0001583	missense	149461				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding	g.chr1:43205521C>T	AK096063	CCDS471.1, CCDS44125.1, CCDS53306.1	1p34.2	2008-05-14			ENSG00000164007	ENSG00000164007		"Claudins"	2040	protein-coding gene	gene with protein product		610036					Standard	NM_148960		Approved		uc001cht.1	Q8N6F1	OTTHUMG00000007524	ENST00000296387.1:c.214G>A	1.37:g.43205521C>T	ENSP00000296387:p.Ala72Thr		Somatic				CLDN19_ENST00000372539.3_Missense_Mutation_p.A72T|CLDN19_ENST00000296387.1_Missense_Mutation_p.A72T	p.A72T	NM_001185117.1	NP_001172046.1	WXS	Illumina GAIIx	Phase_I	Q8N6F1	CLD19_HUMAN			1	404	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	72					B7Z5I2|F5H5P9|Q5QT57|Q8N8X0	Missense_Mutation	SNP	ENST00000296387.1	37	c.214G>A	CCDS471.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900127	0.72754	.	.	ENSG00000164007	ENST00000296387;ENST00000539749;ENST00000372539	D;D;D	0.89196	-2.48;-2.48;-2.48	4.77	3.79	0.43588	.	0.062483	0.64402	D	0.000004	D	0.89001	0.6591	M	0.73319	2.225	0.38404	D	0.945759	D;P;P	0.54964	0.969;0.866;0.89	P;B;B	0.48400	0.576;0.216;0.322	D	0.90322	0.4345	10	0.66056	D	0.02	.	9.5201	0.39129	0.3409:0.6591:0.0:0.0	.	72;72;72	F5H5P9;Q8N6F1-2;Q8N6F1	.;.;CLD19_HUMAN	T	72	ENSP00000296387:A72T;ENSP00000443229:A72T;ENSP00000361617:A72T	ENSP00000296387:A72T	A	-	1	0	CLDN19	42978108	0.793000	0.28825	1.000000	0.80357	0.981000	0.71138	1.421000	0.34815	2.182000	0.69389	0.643000	0.83706	GCC		0.637	CLDN19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019788.1	NM_148960		8	16	0	0	0	1	0	8	16					T	43205521	C	T	43205521	3	4	48	1	0	0	0	0	1	0	0	0	3482	768	27	1	596	1	CLDN19	1	43205521	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	128843	43205521	206045100	89	4557										
SLC6A9	6536	broad.mit.edu	37	chr1	44474151	44474151	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtccagtacaccggcgcagTcatgcgtgttccaggggtta	13	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:44474151T>C	ENST00000360584.2	-	5	874	c.683A>G	c.(682-684)gAc>gGc	p.D228G	SLC6A9_ENST00000372307.3_Missense_Mutation_p.D90G|SLC6A9_ENST00000372310.3_Missense_Mutation_p.D155G|SLC6A9_ENST00000537678.1_Missense_Mutation_p.D90G|SLC6A9_ENST00000492434.2_5'Flank|SLC6A9_ENST00000475075.2_Missense_Mutation_p.D44G|SLC6A9_ENST00000372306.3_Missense_Mutation_p.D155G|SLC6A9_ENST00000357730.2_Missense_Mutation_p.D174G	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	228					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	ACCGGCGCAGTCATGCGTGTT	0.592																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(463-465)gAc>gGc		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						144	125	132					1																	44474151		2203	4300	6503	SO:0001583	missense	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44474151T>C	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.683A>G	1.37:g.44474151T>C	ENSP00000353791:p.Asp228Gly		Somatic				SLC6A9_ENST00000357730.2_Missense_Mutation_p.D174G|SLC6A9_ENST00000372307.3_Missense_Mutation_p.D90G|SLC6A9_ENST00000360584.2_Missense_Mutation_p.D228G|SLC6A9_ENST00000537678.1_Missense_Mutation_p.D90G|SLC6A9_ENST00000372306.3_Missense_Mutation_p.D155G|SLC6A9_ENST00000475075.2_Missense_Mutation_p.D44G	p.D155G	NM_001024845.2	NP_001020016.1	WXS	Illumina GAIIx	Phase_I	P48067	SC6A9_HUMAN			5	629	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	228					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	c.464A>G	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	T	8.402	0.842250	0.16963	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.73	5.73	0.89815	.	0.091306	0.85682	D	0.000000	T	0.71921	0.3397	L	0.27975	0.815	0.80722	D	1	P;B;B;B;B;P	0.48230	0.846;0.005;0.049;0.005;0.009;0.907	B;B;B;B;B;P	0.51297	0.32;0.012;0.051;0.008;0.012;0.665	T	0.70317	-0.4905	10	0.29301	T	0.29	.	16.0745	0.80960	0.0:0.0:0.0:1.0	.	159;155;90;155;174;228	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	G	90;155;155;44;228;174;90	ENSP00000361381:D90G;ENSP00000361380:D155G;ENSP00000361384:D155G;ENSP00000434460:D44G;ENSP00000353791:D228G;ENSP00000350362:D174G;ENSP00000442523:D90G	ENSP00000350362:D174G	D	-	2	0	SLC6A9	44246738	1.000000	0.71417	0.996000	0.52242	0.034000	0.12701	4.057000	0.57455	2.201000	0.70794	0.529000	0.55759	GAC		0.592	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		38	67	0	0	0	1	0	38	67					C	44474151	T	C	44474151	3	2	48	1	0	0	0	0	1	0	0	0	14706	1667	58	4	1477	4	SLC6A9	1	44474151	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1268630	44474151	204776470	90	4558										
UROD	7389	broad.mit.edu	37	chr1	45481017	45481017	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggtcccccaggaggagatCgggcagttggtgaagcagat	16	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:45481017C>T	ENST00000246337.4	+	10	1070	c.951C>T	c.(949-951)atC>atT	p.I317I	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	317					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					AGGAGGAGATCGGGCAGTTGG	0.532									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000246337.4																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(949-951)atC>atT		uroporphyrinogen decarboxylase							103	91	95					1																	45481017		2203	4300	6503	SO:0001819	synonymous_variant	7389	Porphyria Cutanea Tarda, Type II	Familial Cancer Database	PCT-II		cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity	g.chr1:45481017C>T	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.951C>T	1.37:g.45481017C>T			Somatic	OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	UROD_ENST00000494399.1_3'UTR	p.I317I	NM_000374.4	NP_000365.3	WXS	Illumina GAIIx	Phase_I	P06132	DCUP_HUMAN			10	1070	+	Acute lymphoblastic leukemia(166;0.155)		317					A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Silent	SNP	ENST00000246337.4	37	c.951C>T	CCDS518.1																																																																																				0.532	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024803.1	NM_000374		16	23	0	0	0	1	0	16	23					T	45481017	C	T	45481017	2	4	48	1	0	0	0	0	0	0	0	1	17044	874	31	1		1	UROD	1	45481017	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1006866	45481017	203769604	91	4559										
TESK2	10420	broad.mit.edu	37	chr1	45811195	45811195	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatcttgtcatccagtgagcTtagtcgcttcaccccaggtg	10	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:45811195T>G	ENST00000372086.3	-	11	1433	c.1033A>C	c.(1033-1035)Agc>Cgc	p.S345R	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.S316R|TESK2_ENST00000538496.1_Missense_Mutation_p.S262R|TESK2_ENST00000341771.6_Missense_Mutation_p.S316R	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	345					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|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)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TCCAGTGAGCTTAGTCGCTTC	0.488																																						ENST00000372086.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1033-1035)Agc>Cgc		testis-specific kinase 2							60	62	61					1																	45811195		1993	4174	6167	SO:0001583	missense	10420				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:45811195T>G	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.1033A>C	1.37:g.45811195T>G	ENSP00000361158:p.Ser345Arg		Somatic				TESK2_ENST00000538496.1_Missense_Mutation_p.S262R|TESK2_ENST00000341771.6_Missense_Mutation_p.S316R|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.S316R	p.S345R	NM_007170.2	NP_009101.2	WXS	Illumina GAIIx	Phase_I	Q96S53	TESK2_HUMAN			11	1433	-	Acute lymphoblastic leukemia(166;0.155)		345					Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	37	c.1033A>C	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.345312	0.41498	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	T;T;T;T	0.75704	-0.79;-0.68;-0.79;-0.96	6.08	6.08	0.98989	Protein kinase-like domain (1);	0.127791	0.56097	N	0.000032	T	0.64472	0.2601	L	0.29908	0.895	0.80722	D	1	B;B	0.23990	0.095;0.047	B;B	0.23574	0.047;0.021	T	0.59773	-0.7391	10	0.18276	T	0.48	-8.7664	16.6438	0.85155	0.0:0.0:0.0:1.0	.	316;345	Q96S53-3;Q96S53	.;TESK2_HUMAN	R	316;345;329;316;262	ENSP00000361156:S316R;ENSP00000361158:S345R;ENSP00000343940:S316R;ENSP00000441746:S262R	ENSP00000343940:S316R	S	-	1	0	TESK2	45583782	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.833000	0.48159	2.333000	0.79357	0.533000	0.62120	AGC		0.488	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		22	30	0	0	0	1	0	22	30					G	45811195	T	G	45811195	3	3	48	1	0	0	0	0	1	0	0	0	15783	1609	56	4	686	4	TESK2	1	45811195	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	330178	45811195	203439426	92	4560										
TESK2	10420	broad.mit.edu	37	chr1	45812447	45812447	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagcatcatagtccagcccgAaattctgtggatgggtatgg	12	8	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:45812447A>G	ENST00000372086.3	-	9	1197	c.797T>C	c.(796-798)tTc>tCc	p.F266S	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Intron|TESK2_ENST00000538496.1_Missense_Mutation_p.F183S|TESK2_ENST00000341771.6_Intron	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|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)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GTCCAGCCCGAAATTCTGTGG	0.502																																						ENST00000372086.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(796-798)tTc>tCc		testis-specific kinase 2							78	82	80					1																	45812447		1947	4153	6100	SO:0001583	missense	10420				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:45812447A>G	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.797T>C	1.37:g.45812447A>G	ENSP00000361158:p.Phe266Ser		Somatic				TESK2_ENST00000538496.1_Missense_Mutation_p.F183S|TESK2_ENST00000341771.6_Intron|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Intron	p.F266S	NM_007170.2	NP_009101.2	WXS	Illumina GAIIx	Phase_I	Q96S53	TESK2_HUMAN			9	1197	-	Acute lymphoblastic leukemia(166;0.155)		266			Protein kinase.		Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	37	c.797T>C	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.800161	0.90538	.	.	ENSG00000070759	ENST00000372086;ENST00000372083;ENST00000538496	D;D	0.82344	-1.6;-1.6	6.08	6.08	0.98989	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.88232	0.6381	L	0.46567	1.45	0.80722	D	1	D	0.65815	0.995	D	0.67382	0.951	D	0.89017	0.3432	10	0.72032	D	0.01	-8.8357	16.6438	0.85155	1.0:0.0:0.0:0.0	.	266	Q96S53	TESK2_HUMAN	S	266;250;183	ENSP00000361158:F266S;ENSP00000441746:F183S	ENSP00000361155:F250S	F	-	2	0	TESK2	45585034	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.317000	0.96327	2.333000	0.79357	0.533000	0.62120	TTC		0.502	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		12	18	0	0	0	1	0	12	18					G	45812447	A	G	45812447	3	3	48	1	0	0	0	0	1	0	0	0	15783	246	9	4	930	4	TESK2	1	45812447	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1252	45812447	203438174	93	4561										
MAST2	23139	broad.mit.edu	37	chr1	46290212	46290212	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgacaactgagtcaggatgaTtgtaagttatggagaggaaa	13	4	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:46290212T>G	ENST00000361297.2	+	2	568	c.285T>G	c.(283-285)gaT>gaG	p.D95E	MAST2_ENST00000372009.2_Missense_Mutation_p.D95E	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)					GTCAGGATGATTGTAAGTTAT	0.398																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(283-285)gaT>gaG		microtubule associated serine/threonine kinase 2							166	148	154					1																	46290212		1860	4096	5956	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46290212T>G	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.285T>G	1.37:g.46290212T>G	ENSP00000354671:p.Asp95Glu		Somatic				MAST2_ENST00000372009.2_Missense_Mutation_p.D95E	p.D95E	NM_015112.2	NP_055927.2	WXS	Illumina GAIIx	Phase_I	Q6P0Q8	MAST2_HUMAN			2	568	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		95						Missense_Mutation	SNP	ENST00000361297.2	37	c.285T>G	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.817044	0.50633	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.62788	0.01;-0.0	5.39	3.15	0.36227	.	0.000000	0.48286	D	0.000187	T	0.43722	0.1260	L	0.27053	0.805	0.27688	N	0.946208	B;B	0.33857	0.429;0.429	B;B	0.27608	0.081;0.081	T	0.40979	-0.9534	10	0.46703	T	0.11	-19.2367	9.9966	0.41902	0.0:0.7507:0.0:0.2493	.	95;95	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	E	95	ENSP00000354671:D95E;ENSP00000361079:D95E	ENSP00000354671:D95E	D	+	3	2	MAST2	46062799	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.479000	0.45197	1.253000	0.44018	-0.242000	0.12053	GAT		0.398	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		45	89	0	0	0	1	0	45	89					G	46290212	T	G	46290212	3	3	48	1	0	0	0	0	1	0	0	0	9334	1490	52	4	291	4	MAST2	1	46290212	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	477765	46290212	202960409	94	4562										
CYP4B1	1580	broad.mit.edu	37	chr1	47279612	47279612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctactaccttgcagtcagcGatctcactctgttgatgcag	9	12	3	1	rs139750942		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:47279612G>A	ENST00000271153.4	+	6	685	c.649G>A	c.(649-651)Gat>Aat	p.D217N	CYP4B1_ENST00000452782.2_Missense_Mutation_p.D55N|CYP4B1_ENST00000371923.4_Missense_Mutation_p.D218N|CYP4B1_ENST00000371919.4_Missense_Mutation_p.D203N			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	217					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TGCAGTCAGCGATCTCACTCT	0.567													G|||	1	0.000199681	0	0	5008	,	,		21057	0		0	False		,,,				2504	0.001					ENST00000271153.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(649-651)Gat>Aat		cytochrome P450, family 4, subfamily B, polypeptide 1		G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	195	170	178		649,652	4.3	0	1	dbSNP_134	178	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CYP4B1	NM_000779.3,NM_001099772.1	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	217/512,218/513	47279612	1,13005	2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47279612G>A	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.649G>A	1.37:g.47279612G>A	ENSP00000271153:p.Asp217Asn		Somatic				CYP4B1_ENST00000452782.2_Missense_Mutation_p.D55N|CYP4B1_ENST00000371923.4_Missense_Mutation_p.D218N|CYP4B1_ENST00000371919.4_Missense_Mutation_p.D203N	p.D217N			WXS	Illumina GAIIx	Phase_I	P13584	CP4B1_HUMAN			6	685	+	Acute lymphoblastic leukemia(166;0.155)		217					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.649G>A	CCDS542.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173086	0.78452	0.0	1.16E-4	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000526297;ENST00000452782;ENST00000468637	T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.25	4.34	0.51931	.	0.256451	0.44902	D	0.000408	T	0.61652	0.2364	L	0.52823	1.66	0.58432	D	0.999991	B;P;B;B	0.36282	0.15;0.546;0.103;0.126	B;B;B;B	0.35859	0.027;0.212;0.043;0.072	T	0.62826	-0.6772	10	0.46703	T	0.11	.	13.3403	0.60540	0.0776:0.0:0.9224:0.0	.	55;203;218;217	E7EME6;Q8IZB0;P13584-2;P13584	.;.;.;CP4B1_HUMAN	N	218;217;203;55;55;54	ENSP00000360991:D218N;ENSP00000271153:D217N;ENSP00000360987:D203N;ENSP00000438995:D55N;ENSP00000400413:D55N;ENSP00000437670:D54N	ENSP00000271153:D217N	D	+	1	0	CYP4B1	47052199	1.000000	0.71417	0.038000	0.18304	0.632000	0.37999	3.282000	0.51693	1.213000	0.43380	0.484000	0.47621	GAT		0.567	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		58	102	0	0	0	1	0	58	102					A	47279612	G	A	47279612	3	1	48	1	0	0	0	0	1	0	0	0	4187	1058	37	1	674	1	CYP4B1	1	47279612	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	989400	47279612	201971009	95	4563										
CYP4Z1	199974	broad.mit.edu	37	chr1	47534420	47534420	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acccagactatgccaagattCtcctgaaaagacaaggtaaa	7	10	1	4	rs577489518		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:47534420C>A	ENST00000334194.3	+	2	307	c.304C>A	c.(304-306)Ctc>Atc	p.L102I		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	102						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						TGCCAAGATTCTCCTGAAAAG	0.478													C|||	1	0.000199681	8e-04	0	5008	,	,		21884	0		0	False		,,,				2504	0					ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(304-306)Ctc>Atc		cytochrome P450, family 4, subfamily Z, polypeptide 1							136	123	127					1																	47534420		2203	4300	6503	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47534420C>A	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.304C>A	1.37:g.47534420C>A	ENSP00000334246:p.Leu102Ile		Somatic					p.L102I	NM_178134.2	NP_835235.1	WXS	Illumina GAIIx	Phase_I	Q86W10	CP4Z1_HUMAN			2	307	+			102					Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.304C>A	CCDS545.1	.	.	.	.	.	.	.	.	.	.	C	0.057	-1.232702	0.01505	.	.	ENSG00000186160	ENST00000334194	T	0.68025	-0.3	2.83	-2.73	0.05950	.	0.225556	0.26708	U	0.022914	T	0.33059	0.0850	N	0.05177	-0.1	0.09310	N	1	P	0.40144	0.704	B	0.42462	0.388	T	0.52675	-0.8544	10	0.02654	T	1	.	3.4818	0.07605	0.0:0.3968:0.2134:0.3898	.	102	Q86W10	CP4Z1_HUMAN	I	102	ENSP00000334246:L102I	ENSP00000334246:L102I	L	+	1	0	CYP4Z1	47307007	0.010000	0.17322	0.000000	0.03702	0.083000	0.17756	-0.308000	0.08156	-0.567000	0.06046	0.454000	0.30748	CTC		0.478	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		24	63	1	0	7.87624e-14	1	1.01695e-13	24	63					A	47534420	C	A	47534420	3	1	48	1	0	0	0	0	1	0	0	0	4196	913	32	2	310	2	CYP4Z1	1	47534420	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	254808	47534420	201716201	96	4564										
BEND5	79656	broad.mit.edu	37	chr1	49208353	49208353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggagcggggtaataggacGacgtatttgcttcctcactg	13	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:49208353G>A	ENST00000371833.3	-	4	922	c.836C>T	c.(835-837)tCg>tTg	p.S279L	AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371838.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	279						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						GTAATAGGACGACGTATTTGC	0.483																																						ENST00000371833.3																			0				large_intestine(5)|lung(2)|skin(1)	8						c.(835-837)tCg>tTg		BEN domain containing 5							135	123	127					1																	49208353		2203	4300	6503	SO:0001583	missense	79656							g.chr1:49208353G>A	BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"BEN domain containing"	25668	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 165"	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.836C>T	1.37:g.49208353G>A	ENSP00000360899:p.Ser279Leu		Somatic				AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron	p.S279L	NM_024603.2	NP_078879.2	WXS	Illumina GAIIx	Phase_I	Q7L4P6	BEND5_HUMAN			4	922	-			279					D3DQ27|Q96A62|Q9HAI3	Missense_Mutation	SNP	ENST00000371833.3	37	c.836C>T	CCDS552.2	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196246	0.58126	.	.	ENSG00000162373	ENST00000371833	.	.	.	5.45	5.45	0.79879	.	0.192102	0.47093	D	0.000242	T	0.61714	0.2369	N	0.24115	0.695	0.47547	D	0.999458	D	0.64830	0.994	P	0.61201	0.885	T	0.57568	-0.7789	8	.	.	.	-22.4504	18.4445	0.90678	0.0:0.0:1.0:0.0	.	279	Q7L4P6	BEND5_HUMAN	L	279	.	.	S	-	2	0	BEND5	48980940	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.112000	0.77086	2.838000	0.97847	0.591000	0.81541	TCG		0.483	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	NM_024603		35	51	0	0	0	1	0	35	51					A	49208353	G	A	49208353	3	1	48	1	0	0	0	0	1	0	0	0	1401	1059	37	1	441	1	BEND5	1	49208353	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1673933	49208353	200042268	97	4565										
RNF11	26994	broad.mit.edu	37	chr1	51735705	51735705	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagctgactgaagaggaacaAattaggatagctcaaagaat	10	6	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:51735705A>C	ENST00000242719.3	+	2	687	c.201A>C	c.(199-201)caA>caC	p.Q67H	RNF11_ENST00000494873.1_Intron	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	67					protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		large_intestine(1)	1						AAGAGGAACAAATTAGGATAG	0.408																																						ENST00000242719.3																			2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	large_intestine(1)	1						c.(199-201)caA>caC		ring finger protein 11							63	66	65					1																	51735705		2203	4300	6503	SO:0001583	missense	26994				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding	g.chr1:51735705A>C	AB024703	CCDS556.1	1p32	2013-01-09			ENSG00000123091	ENSG00000123091		"RING-type (C3HC4) zinc fingers"	10056	protein-coding gene	gene with protein product		612598				10673045, 10810093	Standard	NM_014372		Approved	CGI-123, Sid1669p, MGC51169	uc001csi.4	Q9Y3C5	OTTHUMG00000008190	ENST00000242719.3:c.201A>C	1.37:g.51735705A>C	ENSP00000242719:p.Gln67His		Somatic				RNF11_ENST00000494873.1_Intron	p.Q67H	NM_014372.4	NP_055187.1	WXS	Illumina GAIIx	Phase_I	Q9Y3C5	RNF11_HUMAN			2	687	+			67					A8KAI2|Q5T7R8	Missense_Mutation	SNP	ENST00000242719.3	37	c.201A>C	CCDS556.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.115723	0.77323	.	.	ENSG00000123091	ENST00000242719	T	0.19806	2.12	5.92	1.09	0.20402	.	0.000000	0.85682	D	0.000000	T	0.41442	0.1159	M	0.73962	2.25	0.58432	D	0.999999	D	0.89917	1.0	D	0.72982	0.979	T	0.35126	-0.9801	10	0.72032	D	0.01	-1.674	10.5428	0.45043	0.6291:0.0:0.3709:0.0	.	67	Q9Y3C5	RNF11_HUMAN	H	67	ENSP00000242719:Q67H	ENSP00000242719:Q67H	Q	+	3	2	RNF11	51508293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.081000	0.30791	0.471000	0.27319	0.533000	0.62120	CAA		0.408	RNF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022419.1	NM_014372		30	40	0	0	0	1	0	30	40					C	51735705	A	C	51735705	3	2	48	1	0	0	0	0	1	0	0	0	13439	11	1	4	207	4	RNF11	1	51735705	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2527352	51735705	197514916	98	4566										
NRD1	4898	broad.mit.edu	37	chr1	52271205	52271205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgcagatttctgtatcaaCggtgaaattagatggaaacg	11	6	2	3	rs113829213	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52271205C>T	ENST00000354831.7	-	21	2532	c.2343G>A	c.(2341-2343)ccG>ccA	p.P781P	NRD1_ENST00000544028.1_Silent_p.P581P|NRD1_ENST00000539524.1_Silent_p.P649P|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.P713P	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	712					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						TCTGTATCAACGGTGAAATTA	0.289													G|||	4	0.000798722	0.003	0	5008	,	,		16278	0		0	False		,,,				2504	0					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.(2341-2343)ccG>ccA		nardilysin (N-arginine dibasic convertase)		G	,,	17,4373		0,17,2178	33	37	36		2139,1947,2343	2.3	1	1	dbSNP_132	36	0,8556		0,0,4278	no	coding-synonymous,coding-synonymous,coding-synonymous	NRD1	NM_001101662.1,NM_001242361.1,NM_002525.2	,,	0,17,6456	TT,TC,CC		0.0,0.3872,0.1313	,,	713/1152,649/1088,781/1220	52271205	17,12929	2195	4278	6473	SO:0001819	synonymous_variant	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.chr1:52271205C>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.2343G>A	1.37:g.52271205C>T			Somatic				NRD1_ENST00000352171.7_Silent_p.P713P|NRD1_ENST00000539524.1_Silent_p.P649P|NRD1_ENST00000544028.1_Silent_p.P581P|NRD1_ENST00000485608.1_5'UTR	p.P781P	NM_002525.2	NP_002516.2	WXS	Illumina GAIIx	Phase_I	O43847	NRDC_HUMAN			21	2532	-			712					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Silent	SNP	ENST00000354831.7	37	c.2343G>A	CCDS559.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	15.43	2.830685	0.50845	0.003872	0.0	ENSG00000078618	ENST00000440943	.	.	.	5.71	2.26	0.28386	.	.	.	.	.	T	0.43656	0.1257	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25984	-1.0116	4	.	.	.	-12.6234	2.136	0.03762	0.4241:0.286:0.186:0.1039	.	.	.	.	I	128	.	.	V	-	1	0	NRD1	52043793	0.439000	0.25610	1.000000	0.80357	0.973000	0.67179	-0.099000	0.11007	0.459000	0.27016	-1.104000	0.02111	GTT		0.289	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		15	18	0	0	0	1	0	15	18					T	52271205	C	T	52271205	2	4	48	1	0	0	0	0	0	0	0	1	10654	523	19	1		1	NRD1	1	52271205	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	535500	52271205	196979416	99	4567										
ZFYVE9	9372	broad.mit.edu	37	chr1	52704252	52704252	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggcactacagaattccttaAtatgacagagcatttctctg	7	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52704252A>C	ENST00000371591.1	+	3	1294	c.1163A>C	c.(1162-1164)aAt>aCt	p.N388T	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.N388T|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.N388T	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	388					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)			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						GAATTCCTTAATATGACAGAG	0.373																																						ENST00000287727.3																			0				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.(1162-1164)aAt>aCt		zinc finger, FYVE domain containing 9							77	75	75					1																	52704252		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.chr1:52704252A>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.1163A>C	1.37:g.52704252A>C	ENSP00000360647:p.Asn388Thr		Somatic				ZFYVE9_ENST00000361625.1_Missense_Mutation_p.N388T|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.N388T|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.N388T	p.N388T	NM_004799.2	NP_004790.2	WXS	Illumina GAIIx	Phase_I	O95405	ZFYV9_HUMAN			4	1335	+			388					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.1163A>C	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	5.797	0.331354	0.10956	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.54479	1.06;0.57;1.07;1.07	4.29	3.13	0.36017	.	0.433119	0.18863	N	0.129063	T	0.30759	0.0775	N	0.14661	0.345	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.09377	0.001;0.001;0.004	T	0.09443	-1.0674	10	0.29301	T	0.29	.	7.4844	0.27423	0.8426:0.0:0.1574:0.0	.	388;388;388	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	T	388	ENSP00000349737:N388T;ENSP00000355358:N388T;ENSP00000287727:N388T;ENSP00000360647:N388T	ENSP00000287727:N388T	N	+	2	0	ZFYVE9	52476840	0.018000	0.18449	0.243000	0.24186	0.905000	0.53344	0.880000	0.28159	1.806000	0.52798	0.533000	0.62120	AAT		0.373	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		31	51	0	0	0	1	0	31	51					C	52704252	A	C	52704252	3	2	48	1	0	0	0	0	1	0	0	0	17686	101	4	4	1169	4	ZFYVE9	1	52704252	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	433047	52704252	196546369	100	4568										
ZFYVE9	9372	broad.mit.edu	37	chr1	52704608	52704608	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attcagtaacagaagaaaaaGaaatagaggaaagcaagtca	9	4	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52704608G>T	ENST00000371591.1	+	3	1650	c.1519G>T	c.(1519-1521)Gaa>Taa	p.E507*	ZFYVE9_ENST00000287727.3_Nonsense_Mutation_p.E507*|ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.E507*	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	507					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)			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						AGAAGAAAAAGAAATAGAGGA	0.388																																						ENST00000287727.3																			0				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.(1519-1521)Gaa>Taa		zinc finger, FYVE domain containing 9							54	57	56					1																	52704608		2203	4300	6503	SO:0001587	stop_gained	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.chr1:52704608G>T	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.1519G>T	1.37:g.52704608G>T	ENSP00000360647:p.Glu507*		Somatic				ZFYVE9_ENST00000361625.1_Nonsense_Mutation_p.E507*|ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.E507*|ZFYVE9_ENST00000371591.1_Nonsense_Mutation_p.E507*	p.E507*	NM_004799.2	NP_004790.2	WXS	Illumina GAIIx	Phase_I	O95405	ZFYV9_HUMAN			4	1691	+			507					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Nonsense_Mutation	SNP	ENST00000371591.1	37	c.1519G>T	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	38	6.670482	0.97751	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	.	.	.	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.8113	0.96547	0.0:0.0:1.0:0.0	.	.	.	.	X	507	.	ENSP00000287727:E507X	E	+	1	0	ZFYVE9	52477196	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	2.690000	0.91761	0.655000	0.94253	GAA		0.388	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		12	47	1	0	0.00010058	1	0.000108553	12	47					T	52704608	G	T	52704608	4	4	48	1	0	0	0	0	0	1	0	0	17686	943	33	2	1525	2	ZFYVE9	1	52704608	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	356	52704608	196546013	101	4569										
ZCCHC11	23318	broad.mit.edu	37	chr1	52981573	52981573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catagtatactttttcaagtCgaaagatgtgatctctttct	6	7	3	2	rs200996250		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52981573C>T	ENST00000371544.3	-	3	1134	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R291Q|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.R291Q	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	291					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTTTTCAAGTCGAAAGATGTG	0.363																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(871-873)cGa>cAa		zinc finger, CCHC domain containing 11							127	117	121					1																	52981573		2202	4300	6502	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52981573C>T	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.872G>A	1.37:g.52981573C>T	ENSP00000360599:p.Arg291Gln		Somatic				ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R291Q|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.R291Q	p.R291Q	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	WXS	Illumina GAIIx	Phase_I	Q5TAX3	TUT4_HUMAN			3	1134	-			291					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.872G>A	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289613	0.95546	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723;ENST00000355809	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	T	0.60728	0.2291	M	0.76328	2.33	0.42735	D	0.993724	D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;0.999	P;D;D;D;P	0.97110	0.517;0.997;0.989;1.0;0.778	T	0.56817	-0.7916	10	0.23302	T	0.38	.	18.8694	0.92306	0.0:1.0:0.0:0.0	.	50;291;291;291;291	E9PKX1;E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;.;TUT4_HUMAN	Q	291;291;291;50;291	ENSP00000257177:R291Q;ENSP00000360599:R291Q;ENSP00000433486:R291Q;ENSP00000435256:R50Q	ENSP00000257177:R291Q	R	-	2	0	ZCCHC11	52754161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.919000	0.70005	2.474000	0.83562	0.655000	0.94253	CGA		0.363	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		24	43	0	0	0	1	0	24	43					T	52981573	C	T	52981573	3	4	48	1	0	0	0	0	1	0	0	0	17595	884	31	1	4177	1	ZCCHC11	1	52981573	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	276965	52981573	196269048	102	4570										
ZCCHC11	23318	broad.mit.edu	37	chr1	52981592	52981592	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgaaagatgtgatctctttCtaagcgttcttctgcttgtt	8	8	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52981592C>A	ENST00000371544.3	-	3	1115	c.853G>T	c.(853-855)Gaa>Taa	p.E285*	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.E285*|ZCCHC11_ENST00000355809.4_Nonsense_Mutation_p.E285*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	285					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TGATCTCTTTCTAAGCGTTCT	0.393																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(853-855)Gaa>Taa		zinc finger, CCHC domain containing 11							142	130	134					1																	52981592		2202	4300	6502	SO:0001587	stop_gained	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.chr1:52981592C>A	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.853G>T	1.37:g.52981592C>A	ENSP00000360599:p.Glu285*		Somatic				ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.E285*|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Nonsense_Mutation_p.E285*	p.E285*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	WXS	Illumina GAIIx	Phase_I	Q5TAX3	TUT4_HUMAN			3	1115	-			285					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Nonsense_Mutation	SNP	ENST00000371544.3	37	c.853G>T	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	37	6.144502	0.97320	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723;ENST00000355809	.	.	.	5.26	5.26	0.73747	.	0.341302	0.31323	N	0.007844	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	18.8694	0.92306	0.0:1.0:0.0:0.0	.	.	.	.	X	285;285;285;44;285	.	ENSP00000257177:E285X	E	-	1	0	ZCCHC11	52754180	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.140000	0.50585	2.474000	0.83562	0.655000	0.94253	GAA		0.393	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		25	45	1	0	1.42536e-11	1	1.77514e-11	25	45					A	52981592	C	A	52981592	4	1	48	1	0	0	0	0	0	1	0	0	17595	922	32	2	4196	2	ZCCHC11	1	52981592	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	19	52981592	196269029	103	4571										
ZCCHC11	23318	broad.mit.edu	37	chr1	52991830	52991830	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgttctcaatttcttttacGgatttatcatttctagcttt	4	8	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52991830G>A	ENST00000371544.3	-	2	385	c.123C>T	c.(121-123)tcC>tcT	p.S41S	ZCCHC11_ENST00000371541.1_5'Flank|ZCCHC11_ENST00000257177.4_Silent_p.S41S|ZCCHC11_ENST00000355809.4_Silent_p.S41S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	41					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTTCTTTTACGGATTTATCAT	0.274																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(121-123)tcC>tcT		zinc finger, CCHC domain containing 11							56	57	56					1																	52991830		2203	4297	6500	SO:0001819	synonymous_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52991830G>A	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.123C>T	1.37:g.52991830G>A			Somatic				ZCCHC11_ENST00000257177.4_Silent_p.S41S|ZCCHC11_ENST00000355809.4_Silent_p.S41S	p.S41S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	WXS	Illumina GAIIx	Phase_I	Q5TAX3	TUT4_HUMAN			2	385	-			41					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	37	c.123C>T	CCDS30716.1																																																																																				0.274	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		9	27	0	0	0	1	0	9	27					A	52991830	G	A	52991830	2	1	48	1	0	0	0	0	0	0	0	1	17595	1103	39	1		1	ZCCHC11	1	52991830	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	10238	52991830	196258791	104	4572										
ZYG11B	79699	broad.mit.edu	37	chr1	53237447	53237447	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggcgaaggacatttgaagGttagactttaaaaatgtatt	10	4	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:53237447G>A	ENST00000294353.6	+	3	1096		c.e3+1		ZYG11B_ENST00000443756.2_Splice_Site|ZYG11B_ENST00000545132.1_Splice_Site	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator											breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						ACATTTGAAGGTTAGACTTTA	0.363																																						ENST00000294353.6																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						c.e3+1		zyg-11 family member B, cell cycle regulator							69	70	70					1																	53237447		2203	4290	6493	SO:0001630	splice_region_variant	79699						protein binding	g.chr1:53237447G>A	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.951+1G>A	1.37:g.53237447G>A			Somatic				ZYG11B_ENST00000443756.2_Splice_Site|ZYG11B_ENST00000545132.1_Splice_Site		NM_024646.2	NP_078922.1	WXS	Illumina GAIIx	Phase_I	Q9C0D3	ZY11B_HUMAN			3	1096	+								Q8N2X3|Q9H8L8	Splice_Site	SNP	ENST00000294353.6	37		CCDS30717.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828305	0.71143	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7646	0.91866	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZYG11B	53010035	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.498000	0.97972	2.660000	0.90430	0.644000	0.83932	.		0.363	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646	Intron	8	71	0	0	0	1	0	8	71					A	53237447	G	A	53237447	5	1	48	1	0	0	0	0	0	0	1	0	18268	1275	44	3	962	3	ZYG11B	1	53237447	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	245617	53237447	196013174	105	4573										
GLIS1	148979	broad.mit.edu	37	chr1	54060081	54060081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagacaggggataggggggCggcaggccctgctggtgagg	22	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:54060081C>T	ENST00000312233.2	-	3	1061	c.495G>A	c.(493-495)ccG>ccA	p.P165P		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GATAGGGGGGCGGCAGGCCCT	0.682																																						ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(493-495)ccG>ccA		GLIS family zinc finger 1							11	13	12					1																	54060081		2170	4245	6415	SO:0001819	synonymous_variant	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:54060081C>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.495G>A	1.37:g.54060081C>T			Somatic					p.P165P	NM_147193.2	NP_671726.2	WXS	Illumina GAIIx	Phase_I	Q8NBF1	GLIS1_HUMAN			3	1061	-			165						Silent	SNP	ENST00000312233.2	37	c.495G>A	CCDS582.1																																																																																				0.682	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		7	27	0	0	0	1	0	7	27					T	54060081	C	T	54060081	2	4	48	1	0	0	0	0	0	0	0	1	6453	755	27	1		1	GLIS1	1	54060081	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	822634	54060081	195190540	106	4574										
SSBP3	23648	broad.mit.edu	37	chr1	54717490	54717490	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttgtcgtgtgggatccataGaattgggcagcaatggctgt	15	6	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:54717490G>T	ENST00000371320.3	-	8	961	c.551C>A	c.(550-552)tCt>tAt	p.S184Y	SSBP3_ENST00000371319.3_Missense_Mutation_p.S157Y|SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000357475.4_Missense_Mutation_p.S164Y|SSBP3_ENST00000417664.2_Missense_Mutation_p.S74Y	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	184	Gly-rich.|Pro-rich.				head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						GGGATCCATAGAATTGGGCAG	0.622																																						ENST00000371320.3																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(550-552)tCt>tAt		single stranded DNA binding protein 3							55	46	49					1																	54717490		2203	4300	6503	SO:0001583	missense	23648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding	g.chr1:54717490G>T		CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"single-stranded DNA-binding protein 3"			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.551C>A	1.37:g.54717490G>T	ENSP00000360371:p.Ser184Tyr		Somatic				SSBP3_ENST00000417664.2_Missense_Mutation_p.S74Y|SSBP3_ENST00000371319.3_Missense_Mutation_p.S157Y|SSBP3_ENST00000357475.4_Missense_Mutation_p.S164Y|SSBP3_ENST00000326956.7_5'UTR	p.S184Y	NM_145716.2	NP_663768.1	WXS	Illumina GAIIx	Phase_I	Q9BWW4	SSBP3_HUMAN			8	961	-			184			Gly-rich.|Pro-rich.		A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	ENST00000371320.3	37	c.551C>A	CCDS591.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726118	0.69074	.	.	ENSG00000157216	ENST00000417664;ENST00000371320;ENST00000371319;ENST00000357475;ENST00000444533;ENST00000525990	.	.	.	4.68	4.68	0.58851	.	0.235860	0.29100	U	0.013157	T	0.68732	0.3033	L	0.61218	1.895	0.46954	D	0.999266	P;B;P	0.40794	0.729;0.288;0.603	P;B;P	0.46389	0.452;0.308;0.515	T	0.72626	-0.4236	9	0.59425	D	0.04	-0.7543	18.1462	0.89656	0.0:0.0:1.0:0.0	.	157;164;184	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	Y	74;184;157;164;15;47	.	ENSP00000350067:S164Y	S	-	2	0	SSBP3	54490078	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.536000	0.60636	2.581000	0.87130	0.655000	0.94253	TCT		0.622	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1	NM_018070		7	25	1	0	0.0293803	1	0.0299069	7	25					T	54717490	G	T	54717490	3	4	48	1	0	0	0	0	1	0	0	0	15196	942	33	2	659	2	SSBP3	1	54717490	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	657409	54717490	194533131	107	4575										
C1orf175	374977	broad.mit.edu	37	chr1	55118690	55118690	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtggggccccgggattagggTctggtaccatccctcagccc	14	14	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55118690T>C	ENST00000421030.2	+	3	376	c.91T>C	c.(91-93)Tct>Cct	p.S31P	MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.S31P|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.S31P|MROH7_ENST00000339553.5_Missense_Mutation_p.S31P|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	31						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GGGATTAGGGTCTGGTACCAT	0.572																																						ENST00000414150.2																			0											c.(91-93)Tct>Cct		maestro heat-like repeat family member 7							63	64	64					1																	55118690		1887	4096	5983	SO:0001583	missense	374977							g.chr1:55118690T>C	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.91T>C	1.37:g.55118690T>C	ENSP00000396622:p.Ser31Pro		Somatic				MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000339553.5_Missense_Mutation_p.S31P|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.S31P|MROH7_ENST00000421030.2_Missense_Mutation_p.S31P|MROH7_ENST00000409996.1_Intron	p.S31P			WXS	Illumina GAIIx	Phase_I					3	369	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.91T>C	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	T	13.81	2.347469	0.41599	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.04706	4.09;3.57;3.58	3.16	1.96	0.26148	.	1.327860	0.05790	N	0.610161	T	0.04770	0.0129	L	0.29908	0.895	0.09310	N	1	B;B;B	0.16802	0.004;0.004;0.019	B;B;B	0.15870	0.007;0.003;0.014	T	0.42361	-0.9456	10	0.87932	D	0	.	4.6463	0.12574	0.0:0.1696:0.0:0.8304	.	31;31;31	F8W8P2;Q68CQ1;Q68CQ1-4	.;HEAT8_HUMAN;.	P	31	ENSP00000396622:S31P;ENSP00000343211:S31P;ENSP00000379044:S31P	ENSP00000343211:S31P	S	+	1	0	HEATR8	54891278	0.508000	0.26154	0.002000	0.10522	0.001000	0.01503	2.308000	0.43690	0.551000	0.29008	-0.366000	0.07423	TCT		0.572	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		24	46	0	0	0	1	0	24	46					C	55118690	T	C	55118690	3	2	48	1	0	0	0	0	1	0	0	0	2018	1667	58	4	93	4	C1orf175	1	55118690	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	401200	55118690	194131931	108	4576										
C1orf175	374977	broad.mit.edu	37	chr1	55119575	55119575	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaccatctctccaccctcaTgcatgactctaatcctgggt	5	17	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55119575T>C	ENST00000421030.2	+	3	1261	c.976T>C	c.(976-978)Tgc>Cgc	p.C326R	MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.C326R|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.C326R|MROH7_ENST00000339553.5_Missense_Mutation_p.C326R|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	326	Ser-rich.					extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCCACCCTCATGCATGACTCT	0.562																																						ENST00000414150.2																			0											c.(976-978)Tgc>Cgc		maestro heat-like repeat family member 7							124	120	122					1																	55119575		2154	4247	6401	SO:0001583	missense	374977							g.chr1:55119575T>C	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.976T>C	1.37:g.55119575T>C	ENSP00000396622:p.Cys326Arg		Somatic				MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000339553.5_Missense_Mutation_p.C326R|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.C326R|MROH7_ENST00000421030.2_Missense_Mutation_p.C326R|MROH7_ENST00000409996.1_Intron	p.C326R			WXS	Illumina GAIIx	Phase_I					3	1254	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.976T>C	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	T	8.483	0.860176	0.17178	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.04317	3.65;3.65;3.65	3.49	2.35	0.29111	.	0.680937	0.12321	N	0.479234	T	0.08492	0.0211	L	0.27053	0.805	0.09310	N	0.999998	D;P;D	0.65815	0.962;0.926;0.995	P;P;P	0.61592	0.758;0.628;0.891	T	0.30357	-0.9981	10	0.87932	D	0	.	5.5373	0.17018	0.0:0.1273:0.0:0.8727	.	326;326;326	F8W8P2;Q68CQ1;Q68CQ1-4	.;HEAT8_HUMAN;.	R	326	ENSP00000396622:C326R;ENSP00000343211:C326R;ENSP00000379044:C326R	ENSP00000343211:C326R	C	+	1	0	HEATR8	54892163	0.912000	0.30974	0.052000	0.19188	0.046000	0.14306	1.672000	0.37523	0.708000	0.31955	0.459000	0.35465	TGC		0.562	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		54	101	0	0	0	1	0	54	101					C	55119575	T	C	55119575	3	2	48	1	0	0	0	0	1	0	0	0	2018	1464	51	4	978	4	C1orf175	1	55119575	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	885	55119575	194131046	109	4577										
PCSK9	255738	broad.mit.edu	37	chr1	55523792	55523792	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgatccacttctctgccaaaGatgtcatcaatgaggcctgg	9	11	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55523792G>T	ENST00000302118.5	+	8	1554	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.D222Y	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	422	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CTCTGCCAAAGATGTCATCAA	0.622																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(1264-1266)Gat>Tat		proprotein convertase subtilisin/kexin type 9							71	66	68					1																	55523792		2203	4300	6503	SO:0001583	missense	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55523792G>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.1264G>T	1.37:g.55523792G>T	ENSP00000303208:p.Asp422Tyr		Somatic				PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.D222Y	p.D422Y	NM_174936.3	NP_777596.2	WXS	Illumina GAIIx	Phase_I	Q8NBP7	PCSK9_HUMAN			8	1554	+			422			Peptidase S8.		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	ENST00000302118.5	37	c.1264G>T	CCDS603.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813259	0.50527	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.88124	-2.34;-2.34	4.72	2.43	0.29744	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.468738	0.20279	N	0.095481	D	0.87593	0.6216	L	0.55743	1.74	0.09310	N	1	D	0.60160	0.987	P	0.57244	0.816	T	0.78204	-0.2295	10	0.72032	D	0.01	-7.6867	5.922	0.19088	0.4406:0.0:0.5594:0.0	.	422	Q8NBP7	PCSK9_HUMAN	Y	422;222	ENSP00000303208:D422Y;ENSP00000441859:D222Y	ENSP00000303208:D422Y	D	+	1	0	PCSK9	55296380	0.988000	0.35896	0.008000	0.14137	0.971000	0.66376	1.575000	0.36493	0.948000	0.37687	0.563000	0.77884	GAT		0.622	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		22	59	1	0	1.96895e-08	1	2.32153e-08	22	59					T	55523792	G	T	55523792	3	4	48	1	0	0	0	0	1	0	0	0	11615	942	33	2	1294	2	PCSK9	1	55523792	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	404217	55523792	193726829	110	4578										
USP24	23358	broad.mit.edu	37	chr1	55567292	55567292	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgcatatacagctgctggaAgactgcattcatataacaag	8	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55567292A>G	ENST00000294383.6	-	43	5109	c.5110T>C	c.(5110-5112)Ttc>Ctc	p.F1704L	USP24_ENST00000407756.1_Missense_Mutation_p.F1544L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1704	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AGCTGCTGGAAGACTGCATTC	0.443																																						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.(5110-5112)Ttc>Ctc		ubiquitin specific peptidase 24							61	60	60					1																	55567292		1951	4139	6090	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55567292A>G	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.5110T>C	1.37:g.55567292A>G	ENSP00000294383:p.Phe1704Leu		Somatic				USP24_ENST00000407756.1_Missense_Mutation_p.F1544L	p.F1704L	NM_015306.2	NP_056121.2	WXS	Illumina GAIIx	Phase_I	Q9UPU5	UBP24_HUMAN			43	5109	-			1704					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.5110T>C	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	A	14.09	2.430651	0.43122	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.01804	4.63;4.63	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.00524	0.0017	N	0.00052	-2.395	0.58432	D	0.999996	B	0.16802	0.019	B	0.12156	0.007	T	0.52457	-0.8573	10	0.02654	T	1	.	16.1269	0.81402	1.0:0.0:0.0:0.0	.	1544	B7WPF4	.	L	1704;1544	ENSP00000294383:F1704L;ENSP00000385700:F1544L	ENSP00000294383:F1704L	F	-	1	0	USP24	55339880	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.910000	0.92685	2.285000	0.76669	0.477000	0.44152	TTC		0.443	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			4	17	0	0	0	1	0	4	17					G	55567292	A	G	55567292	3	3	48	1	0	0	0	0	1	0	0	0	17070	72	3	4	2856	4	USP24	1	55567292	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	43500	55567292	193683329	111	4579										
USP24	23358	broad.mit.edu	37	chr1	55567320	55567320	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcatataacaagttgcaccAccatttctcagccccacaaa	3	14	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55567320A>G	ENST00000294383.6	-	43	5081	c.5082T>C	c.(5080-5082)ggT>ggC	p.G1694G	USP24_ENST00000407756.1_Silent_p.G1534G	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1694	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAGTTGCACCACCATTTCTCA	0.458																																						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.(5080-5082)ggT>ggC		ubiquitin specific peptidase 24							64	64	64					1																	55567320		1974	4152	6126	SO:0001819	synonymous_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55567320A>G	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.5082T>C	1.37:g.55567320A>G			Somatic				USP24_ENST00000407756.1_Silent_p.G1534G	p.G1694G	NM_015306.2	NP_056121.2	WXS	Illumina GAIIx	Phase_I	Q9UPU5	UBP24_HUMAN			43	5081	-			1694					Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	c.5082T>C	CCDS44154.2																																																																																				0.458	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			4	19	0	0	0	1	0	4	19					G	55567320	A	G	55567320	2	3	48	1	0	0	0	0	0	0	0	1	17070	146	6	4		4	USP24	1	55567320	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	28	55567320	193683301	112	4580										
USP24	23358	broad.mit.edu	37	chr1	55613398	55613398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggccacagcagctgcaagcCgatgacaagcgatcaaactt	10	13	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55613398C>T	ENST00000294383.6	-	18	2041	c.2042G>A	c.(2041-2043)cGg>cAg	p.R681Q	USP24_ENST00000407756.1_Missense_Mutation_p.R521Q	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	681					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						AGCTGCAAGCCGATGACAAGC	0.458																																						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.(2041-2043)cGg>cAg		ubiquitin specific peptidase 24							25	29	28					1																	55613398		1945	4151	6096	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55613398C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2042G>A	1.37:g.55613398C>T	ENSP00000294383:p.Arg681Gln		Somatic				USP24_ENST00000407756.1_Missense_Mutation_p.R521Q	p.R681Q	NM_015306.2	NP_056121.2	WXS	Illumina GAIIx	Phase_I	Q9UPU5	UBP24_HUMAN			18	2041	-			681					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.2042G>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	35	5.440983	0.96168	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02301	4.36;4.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.04634	0.0126	N	0.12746	0.255	0.51012	D	0.999906	D	0.64830	0.994	D	0.64042	0.921	T	0.61821	-0.6984	10	0.07644	T	0.81	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	521	B7WPF4	.	Q	681;521	ENSP00000294383:R681Q;ENSP00000385700:R521Q	ENSP00000294383:R681Q	R	-	2	0	USP24	55385986	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CGG		0.458	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			7	15	0	0	0	1	0	7	15					T	55613398	C	T	55613398	3	4	48	1	0	0	0	0	1	0	0	0	17070	652	23	1	6024	1	USP24	1	55613398	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	46078	55613398	193637223	113	4581										
USP24	23358	broad.mit.edu	37	chr1	55624553	55624553	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacaaatgaaaaacttacttCtttgagagaattcatcttag	5	6	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55624553C>A	ENST00000294383.6	-	10	1224	c.1225G>T	c.(1225-1227)Gaa>Taa	p.E409*	USP24_ENST00000407756.1_Nonsense_Mutation_p.E297*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	409					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						AAACTTACTTCTTTGAGAGAA	0.348																																						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.(1225-1227)Gaa>Taa		ubiquitin specific peptidase 24							59	55	56					1																	55624553		1839	4089	5928	SO:0001587	stop_gained	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55624553C>A	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1225G>T	1.37:g.55624553C>A	ENSP00000294383:p.Glu409*		Somatic				USP24_ENST00000407756.1_Nonsense_Mutation_p.E297*	p.E409*	NM_015306.2	NP_056121.2	WXS	Illumina GAIIx	Phase_I	Q9UPU5	UBP24_HUMAN			10	1224	-			409					Q6ZSY2|Q8N2Y4|Q9NXD1	Nonsense_Mutation	SNP	ENST00000294383.6	37	c.1225G>T	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	38	6.641463	0.97726	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.9089	0.97019	0.0:1.0:0.0:0.0	.	.	.	.	X	409;297	.	ENSP00000294383:E409X	E	-	1	0	USP24	55397141	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.610000	0.82949	2.709000	0.92574	0.591000	0.81541	GAA		0.348	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			5	11	1	0	0.000602214	1	0.000636035	5	11					A	55624553	C	A	55624553	4	1	48	1	0	0	0	0	0	1	0	0	17070	922	32	2	6873	2	USP24	1	55624553	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	11155	55624553	193626068	114	4582										
C8B	732	broad.mit.edu	37	chr1	57415369	57415369	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attttctctgtgacattgcgTtcaaaatctgagtatgattc	7	7	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:57415369T>C	ENST00000371237.4	-	6	789	c.723A>G	c.(721-723)gaA>gaG	p.E241E	C8B_ENST00000543257.1_Silent_p.E189E|C8B_ENST00000535057.1_Silent_p.E179E	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	241	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGACATTGCGTTCAAAATCTG	0.333																																						ENST00000543257.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(565-567)gaA>gaG		complement component 8, beta polypeptide							88	86	87					1																	57415369		2202	4299	6501	SO:0001819	synonymous_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57415369T>C	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.723A>G	1.37:g.57415369T>C			Somatic				C8B_ENST00000371237.4_Silent_p.E241E|C8B_ENST00000535057.1_Silent_p.E179E	p.E189E	NM_001278543.1	NP_001265472.1	WXS	Illumina GAIIx	Phase_I	P07358	CO8B_HUMAN			7	1133	-			241			MACPF.		A1L4K7	Silent	SNP	ENST00000371237.4	37	c.567A>G	CCDS30730.1																																																																																				0.333	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			10	20	0	0	0	1	0	10	20					C	57415369	T	C	57415369	2	2	48	1	0	0	0	0	0	0	0	1	2419	1722	60	4		4	C8B	1	57415369	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1790816	57415369	191835252	115	4583										
C8B	732	broad.mit.edu	37	chr1	57425735	57425735	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catgtggtccaagaggaccaActagacagctcacaatcaat	8	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:57425735A>G	ENST00000371237.4	-	2	273	c.207T>C	c.(205-207)agT>agC	p.S69S	C8B_ENST00000543257.1_Silent_p.S17S|C8B_ENST00000494324.1_Intron|C8B_ENST00000535057.1_5'UTR	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	69	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.S69R(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AAGAGGACCAACTAGACAGCT	0.507																																						ENST00000543257.1																			1	Substitution - Missense(1)	p.S69R(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(49-51)agT>agC		complement component 8, beta polypeptide							146	119	128					1																	57425735		2203	4300	6503	SO:0001819	synonymous_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57425735A>G	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.207T>C	1.37:g.57425735A>G			Somatic				C8B_ENST00000371237.4_Silent_p.S69S|C8B_ENST00000494324.1_Intron|C8B_ENST00000535057.1_5'UTR	p.S17S	NM_001278543.1	NP_001265472.1	WXS	Illumina GAIIx	Phase_I	P07358	CO8B_HUMAN			3	617	-			69					A1L4K7	Silent	SNP	ENST00000371237.4	37	c.51T>C	CCDS30730.1																																																																																				0.507	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			17	46	0	0	0	1	0	17	46					G	57425735	A	G	57425735	2	3	48	1	0	0	0	0	0	0	0	1	2419	40	2	4		4	C8B	1	57425735	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	10366	57425735	191824886	116	4584										
MYSM1	114803	broad.mit.edu	37	chr1	59147640	59147640	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttcctctaccatttggcaaGaatgaaaaagcatttcatta	5	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:59147640G>T	ENST00000472487.1	-	8	1115	c.1076C>A	c.(1075-1077)tCt>tAt	p.S359Y	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	359					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)					CATTTGGCAAGAATGAAAAAG	0.368																																						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.(1075-1077)tCt>tAt		Myb-like, SWIRM and MPN domains 1							95	87	90					1																	59147640		1830	4092	5922	SO:0001583	missense	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.chr1:59147640G>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.1076C>A	1.37:g.59147640G>T	ENSP00000418734:p.Ser359Tyr		Somatic				MYSM1_ENST00000493821.1_5'UTR	p.S359Y	NM_001085487.2	NP_001078956.1	WXS	Illumina GAIIx	Phase_I	Q5VVJ2	MYSM1_HUMAN			8	1115	-	all_cancers(7;9.36e-06)		359					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.1076C>A	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797332	0.50208	.	.	ENSG00000162601	ENST00000472487	T	0.25085	1.82	4.96	4.04	0.47022	.	0.959852	0.08756	N	0.898472	T	0.20088	0.0483	N	0.24115	0.695	0.23023	N	0.998417	P	0.44578	0.838	B	0.38712	0.28	T	0.14924	-1.0455	10	0.66056	D	0.02	-2.9259	12.3714	0.55256	0.0814:0.0:0.9186:0.0	.	359	Q5VVJ2	MYSM1_HUMAN	Y	359	ENSP00000418734:S359Y	ENSP00000418734:S359Y	S	-	2	0	MYSM1	58920228	1.000000	0.71417	0.995000	0.50966	0.747000	0.42532	6.188000	0.72045	1.308000	0.44962	0.585000	0.79938	TCT		0.368	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		20	32	1	0	2.4624e-09	1	2.95225e-09	20	32					T	59147640	G	T	59147640	3	4	48	1	0	0	0	0	1	0	0	0	10110	942	33	2	1462	2	MYSM1	1	59147640	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1721905	59147640	190102981	117	4585										
MYSM1	114803	broad.mit.edu	37	chr1	59160818	59160818	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacaataaggccattctctgTtctccaagatgaatcaagat	6	9	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:59160818T>C	ENST00000472487.1	-	2	169	c.130A>G	c.(130-132)Aca>Gca	p.T44A		NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	44					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)					CCATTCTCTGTTCTCCAAGAT	0.274																																						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.(130-132)Aca>Gca		Myb-like, SWIRM and MPN domains 1							51	51	51					1																	59160818		1818	4060	5878	SO:0001583	missense	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.chr1:59160818T>C	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.130A>G	1.37:g.59160818T>C	ENSP00000418734:p.Thr44Ala		Somatic					p.T44A	NM_001085487.2	NP_001078956.1	WXS	Illumina GAIIx	Phase_I	Q5VVJ2	MYSM1_HUMAN			2	169	-	all_cancers(7;9.36e-06)		44					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.130A>G	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.515630	0.44763	.	.	ENSG00000162601	ENST00000472487	T	0.23147	1.92	5.05	3.92	0.45320	.	0.397285	0.26673	N	0.023094	T	0.17152	0.0412	L	0.27053	0.805	0.30895	N	0.729961	B	0.13594	0.008	B	0.12156	0.007	T	0.08310	-1.0728	10	0.45353	T	0.12	-2.4004	8.5354	0.33360	0.0:0.0886:0.0:0.9114	.	44	Q5VVJ2	MYSM1_HUMAN	A	44	ENSP00000418734:T44A	ENSP00000418734:T44A	T	-	1	0	MYSM1	58933406	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	2.257000	0.43240	0.937000	0.37394	0.460000	0.39030	ACA		0.274	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		8	9	0	0	0	1	0	8	9					C	59160818	T	C	59160818	3	2	48	1	0	0	0	0	1	0	0	0	10110	1725	60	4	2432	4	MYSM1	1	59160818	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	13178	59160818	190089803	118	4586										
INADL	10207	broad.mit.edu	37	chr1	62350017	62350017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atatcaacaccaagcgacacGagttatttccaaggcctcag	7	12	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:62350017G>A	ENST00000371158.2	+	22	3182	c.3068G>A	c.(3067-3069)cGa>cAa	p.R1023Q	INADL_ENST00000316485.6_Missense_Mutation_p.R1023Q	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1023					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						CAAGCGACACGAGTTATTTCC	0.413																																						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.(3067-3069)cGa>cAa		InaD-like (Drosophila)							211	181	191					1																	62350017		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.chr1:62350017G>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3068G>A	1.37:g.62350017G>A	ENSP00000360200:p.Arg1023Gln		Somatic				INADL_ENST00000316485.6_Missense_Mutation_p.R1023Q	p.R1023Q	NM_176877.2	NP_795352.2	WXS	Illumina GAIIx	Phase_I	Q8NI35	INADL_HUMAN			22	3182	+			1023					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.3068G>A	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	5.569	0.289757	0.10567	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.14266	2.65;2.52	5.13	-2.11	0.07187	.	0.604741	0.15469	N	0.260694	T	0.08537	0.0212	L	0.42245	1.32	0.22050	N	0.99939	B;B;B	0.17852	0.024;0.008;0.005	B;B;B	0.16289	0.015;0.001;0.011	T	0.40175	-0.9577	10	0.15499	T	0.54	.	5.1791	0.15150	0.4336:0.0:0.4304:0.136	.	1023;1023;1023	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	Q	1023	ENSP00000360200:R1023Q;ENSP00000326199:R1023Q	ENSP00000255202:R1023Q	R	+	2	0	INADL	62122605	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.343000	0.07791	-0.625000	0.05604	-1.168000	0.01747	CGA		0.413	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		33	69	0	0	0	1	0	33	69					A	62350017	G	A	62350017	3	1	48	1	0	0	0	0	1	0	0	0	7740	1058	37	1	3150	1	INADL	1	62350017	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3189199	62350017	186900604	119	4587										
L1TD1	54596	broad.mit.edu	37	chr1	62676247	62676247	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acagaactctgcacacagaaGaactaacatccaaagaagca	6	11	1	4	rs202029696	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:62676247G>T	ENST00000498273.1	+	4	2096	c.1801G>T	c.(1801-1803)Gaa>Taa	p.E601*	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	601										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						GCACACAGAAGAACTAACATC	0.348																																						ENST00000498273.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(1801-1803)Gaa>Taa		LINE-1 type transposase domain containing 1							38	37	38					1																	62676247		2203	4300	6503	SO:0001587	stop_gained	54596							g.chr1:62676247G>T	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1801G>T	1.37:g.62676247G>T	ENSP00000419901:p.Glu601*		Somatic					p.E601*	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	WXS	Illumina GAIIx	Phase_I	Q5T7N2	LITD1_HUMAN			4	2096	+			601					Q8NDA1|Q9NUV8|Q9NV78	Nonsense_Mutation	SNP	ENST00000498273.1	37	c.1801G>T	CCDS619.1	.	.	.	.	.	.	.	.	.	.	g	37	6.262370	0.97421	.	.	ENSG00000240563	ENST00000498273	.	.	.	3.07	-0.157	0.13387	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	1.6486	0.02766	0.1282:0.2083:0.4503:0.2133	.	.	.	.	X	601	.	ENSP00000419901:E601X	E	+	1	0	L1TD1	62448835	0.011000	0.17503	0.000000	0.03702	0.176000	0.22953	0.137000	0.15995	-0.006000	0.14370	0.467000	0.42956	GAA		0.348	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		11	21	1	0	2.80697e-09	1	3.36108e-09	11	21					T	62676247	G	T	62676247	4	4	48	1	0	0	0	0	0	1	0	0	8598	943	33	2	1807	2	L1TD1	1	62676247	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	326230	62676247	186574374	120	4588										
KANK4	163782	broad.mit.edu	37	chr1	62703978	62703978	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagggacctgccctgctccgCgtgggctctcagaagcccag	13	16	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:62703978C>A	ENST00000371153.4	-	10	3337	c.2959G>T	c.(2959-2961)Gcg>Tcg	p.A987S	KANK4_ENST00000354381.3_Missense_Mutation_p.A359S|KANK4_ENST00000371150.1_Missense_Mutation_p.A343S|KANK4_ENST00000317477.4_Missense_Mutation_p.A125S	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	987			A -> V (in dbSNP:rs34591898).			cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCCTGCTCCGCGTGGGCTCTC	0.577																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(2959-2961)Gcg>Tcg		KN motif and ankyrin repeat domains 4							38	41	40					1																	62703978		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62703978C>A	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.2959G>T	1.37:g.62703978C>A	ENSP00000360195:p.Ala987Ser		Somatic				KANK4_ENST00000317477.4_Missense_Mutation_p.A125S|KANK4_ENST00000371150.1_Missense_Mutation_p.A343S|KANK4_ENST00000354381.3_Missense_Mutation_p.A359S	p.A987S	NM_181712.4	NP_859063.3	WXS	Illumina GAIIx	Phase_I	Q5T7N3	KANK4_HUMAN			10	3337	-			987		A -> V (in dbSNP:rs34591898).			B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.2959G>T	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979170	0.34942	.	.	ENSG00000132854	ENST00000371153;ENST00000317477;ENST00000354381;ENST00000371150	T;T;T;T	0.52754	0.74;0.65;0.73;0.74	5.02	2.98	0.34508	Ankyrin repeat-containing domain (2);	0.652243	0.12748	N	0.442434	T	0.20333	0.0489	N	0.04746	-0.17	0.22378	N	0.999153	B;B	0.20261	0.013;0.043	B;B	0.16722	0.012;0.016	T	0.26643	-1.0097	10	0.09590	T	0.72	-1.9699	3.7452	0.08545	0.5028:0.3315:0.0:0.1657	.	359;987	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	S	987;125;359;343	ENSP00000360195:A987S;ENSP00000321161:A125S;ENSP00000346352:A359S;ENSP00000360192:A343S	ENSP00000321161:A125S	A	-	1	0	KANK4	62476566	0.012000	0.17670	0.941000	0.38009	0.766000	0.43426	0.057000	0.14279	0.558000	0.29135	0.305000	0.20034	GCG		0.577	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		21	31	1	0	7.41877e-09	1	8.8016e-09	21	31					A	62703978	C	A	62703978	3	1	48	1	0	0	0	0	1	0	0	0	7988	768	27	5	32	5	KANK4	1	62703978	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	27731	62703978	186546643	121	4589										
KANK4	163782	broad.mit.edu	37	chr1	62739628	62739628	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaactccagctctcgaattCtttgctccctagctttgatt	6	12	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:62739628C>A	ENST00000371153.4	-	3	1526	c.1148G>T	c.(1147-1149)aGa>aTa	p.R383I	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	383						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTCTCGAATTCTTTGCTCCCT	0.537																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(1147-1149)aGa>aTa		KN motif and ankyrin repeat domains 4							134	119	124					1																	62739628		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62739628C>A	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.1148G>T	1.37:g.62739628C>A	ENSP00000360195:p.Arg383Ile		Somatic				KANK4_ENST00000354381.3_Intron	p.R383I	NM_181712.4	NP_859063.3	WXS	Illumina GAIIx	Phase_I	Q5T7N3	KANK4_HUMAN			3	1526	-			383					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.1148G>T	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118726	0.37436	.	.	ENSG00000132854	ENST00000371153	T	0.51071	0.72	5.58	3.68	0.42216	.	0.204026	0.25270	N	0.031897	T	0.36744	0.0978	L	0.60455	1.87	0.80722	D	1	P	0.36199	0.543	B	0.27262	0.078	T	0.19192	-1.0313	10	0.51188	T	0.08	-20.3361	6.5456	0.22404	0.1468:0.7047:0.0:0.1485	.	383	Q5T7N3	KANK4_HUMAN	I	383	ENSP00000360195:R383I	ENSP00000360195:R383I	R	-	2	0	KANK4	62512216	0.869000	0.29996	1.000000	0.80357	0.021000	0.10359	0.216000	0.17585	0.694000	0.31654	-0.339000	0.08088	AGA		0.537	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		38	80	1	0	6.29468e-14	1	8.13866e-14	38	80					A	62739628	C	A	62739628	3	1	48	1	0	0	0	0	1	0	0	0	7988	913	32	2	1871	2	KANK4	1	62739628	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	35650	62739628	186510993	122	4590										
DOCK7	85440	broad.mit.edu	37	chr1	63128788	63128788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagatctgcttcctaacttCggctgccaccgttctacaat	8	13	2	1	rs375898065		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:63128788C>T	ENST00000340370.5	-	2	69	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	DOCK7_ENST00000404627.2_Missense_Mutation_p.E18K|DOCK7_ENST00000251157.5_Missense_Mutation_p.E18K	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	18					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						TTCCTAACTTCGGCTGCCACC	0.358																																						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.(52-54)Gaa>Aaa		dedicator of cytokinesis 7							147	140	142					1																	63128788		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63128788C>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.52G>A	1.37:g.63128788C>T	ENSP00000340742:p.Glu18Lys		Somatic				DOCK7_ENST00000404627.2_Missense_Mutation_p.E18K|DOCK7_ENST00000340370.5_Missense_Mutation_p.E18K	p.E18K	NM_001271999.1	NP_001258928.1	WXS	Illumina GAIIx	Phase_I	Q96N67	DOCK7_HUMAN			2	85	-			18					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.52G>A	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529917	0.85706	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.24723	2.29;2.29;1.84	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	M	0.82056	2.57	0.80722	D	1	P;D;D	0.64830	0.902;0.994;0.994	B;P;P	0.59948	0.291;0.866;0.811	T	0.47262	-0.9131	10	0.72032	D	0.01	.	18.4847	0.90824	0.0:1.0:0.0:0.0	.	18;18;18	Q96NI0;Q96N67-2;Q96N67-5	.;.;.	K	18	ENSP00000251157:E18K;ENSP00000340742:E18K;ENSP00000384446:E18K	ENSP00000251157:E18K	E	-	1	0	DOCK7	62901376	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.779000	0.75057	2.660000	0.90430	0.579000	0.79373	GAA		0.358	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		28	64	0	0	0	1	0	28	64					T	63128788	C	T	63128788	3	4	48	1	0	0	0	0	1	0	0	0	4694	893	31	1	6469	1	DOCK7	1	63128788	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	389160	63128788	186121833	123	4591										
ALG6	29929	broad.mit.edu	37	chr1	63894714	63894714	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgaaaagacttctgaagaaGaactgcagttgaaatccttt	8	6	1	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:63894714G>T	ENST00000371108.4	+	14	1548	c.1243G>T	c.(1243-1245)Gaa>Taa	p.E415*	ALG6_ENST00000263440.4_Nonsense_Mutation_p.E417*|ALG6_ENST00000494765.1_3'UTR	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	415					cellular protein metabolic process (GO:0044267)|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)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTCTGAAGAAGAACTGCAGTT	0.313																																						ENST00000371108.4																			0				endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1243-1245)Gaa>Taa		ALG6, alpha-1,3-glucosyltransferase							52	50	51					1																	63894714		2202	4298	6500	SO:0001587	stop_gained	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63894714G>T	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	604566	"asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.1243G>T	1.37:g.63894714G>T	ENSP00000360149:p.Glu415*		Somatic				ALG6_ENST00000263440.4_Nonsense_Mutation_p.E417*|ALG6_ENST00000494765.1_3'UTR	p.E415*	NM_013339.3	NP_037471.2	WXS	Illumina GAIIx	Phase_I	Q9Y672	ALG6_HUMAN			14	1548	+			415					B3KMU2|Q5SXR9|Q9H3I0	Nonsense_Mutation	SNP	ENST00000371108.4	37	c.1243G>T	CCDS30735.1	.	.	.	.	.	.	.	.	.	.	G	37	6.013303	0.97200	.	.	ENSG00000088035	ENST00000371108;ENST00000263440;ENST00000423077	.	.	.	4.92	2.84	0.33178	.	0.967687	0.08570	N	0.926201	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	2.1851	9.5802	0.39484	0.0:0.2997:0.5553:0.145	.	.	.	.	X	415;417;162	.	ENSP00000263440:E417X	E	+	1	0	ALG6	63667302	1.000000	0.71417	0.960000	0.40013	0.905000	0.53344	1.683000	0.37638	1.177000	0.42855	0.491000	0.48974	GAA		0.313	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		8	8	1	0	1.06961e-07	1	1.24214e-07	8	8					T	63894714	G	T	63894714	4	4	48	1	0	0	0	0	0	1	0	0	522	943	33	2	1293	2	ALG6	1	63894714	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	765926	63894714	185355907	124	4592										
ITGB3BP	23421	broad.mit.edu	37	chr1	63955791	63955791	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtgcttttgctcttcagaActtgtgggagaagcaaatag	11	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:63955791A>G	ENST00000271002.10	-	3	228	c.147T>C	c.(145-147)agT>agC	p.S49S	ITGB3BP_ENST00000283568.8_Silent_p.S49S|ITGB3BP_ENST00000371092.3_Silent_p.S88S	NM_014288.4	NP_055103.3	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	49	DD1.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						GCTCTTCAGAACTTGTGGGAG	0.328																																						ENST00000371092.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						c.(262-264)agT>agC		integrin beta 3 binding protein (beta3-endonexin)							115	112	113					1																	63955791		2203	4300	6503	SO:0001819	synonymous_variant	23421				apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity	g.chr1:63955791A>G	U37139	CCDS30736.1, CCDS55603.1	1p31.3	2013-11-05			ENSG00000142856	ENSG00000142856			6157	protein-coding gene	gene with protein product	"centromere protein R"	605494				7593198, 10490654	Standard	NM_014288		Approved	NRIF3, HSU37139, TAP20, CENPR	uc001dbb.2	Q13352	OTTHUMG00000013364	ENST00000271002.10:c.147T>C	1.37:g.63955791A>G			Somatic				ITGB3BP_ENST00000271002.10_Silent_p.S49S|ITGB3BP_ENST00000283568.8_Silent_p.S49S	p.S88S	NM_001206739.1	NP_001193668.1	WXS	Illumina GAIIx	Phase_I	Q13352	CENPR_HUMAN			4	324	-			49					B2R7D8|Q13353|Q5RJ42|Q5RJ44|Q5RJ45|Q7KYX2|Q96CD5|Q9UKB6	Silent	SNP	ENST00000271002.10	37	c.264T>C	CCDS30736.1																																																																																				0.328	ITGB3BP-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000037242.2	NM_014288		7	47	0	0	0	1	0	7	47					G	63955791	A	G	63955791	2	3	48	1	0	0	0	0	0	0	0	1	7905	40	2	4		4	ITGB3BP	1	63955791	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	61077	63955791	185294830	125	4593										
ROR1	4919	broad.mit.edu	37	chr1	64605808	64605808	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagctgccttcactatgatTggcacttccagtcacttatc	6	14	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:64605808T>C	ENST00000371079.1	+	6	1002	c.627T>C	c.(625-627)atT>atC	p.I209I	ROR1_ENST00000371080.1_Silent_p.I209I|ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	209	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TCACTATGATTGGCACTTCCA	0.438																																						ENST00000371079.1																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.(625-627)atT>atC		receptor tyrosine kinase-like orphan receptor 1							86	72	77					1																	64605808		2203	4300	6503	SO:0001819	synonymous_variant	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64605808T>C	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"Immunoglobulin superfamily / I-set domain containing"	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.627T>C	1.37:g.64605808T>C			Somatic				RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000545203.1_5'UTR|ROR1_ENST00000371080.1_Silent_p.I209I|ROR1_ENST00000482426.1_3'UTR	p.I209I	NM_005012.3	NP_005003.2	WXS	Illumina GAIIx	Phase_I	Q01973	ROR1_HUMAN			6	1002	+			209			FZ.		Q5VVX6|Q66K77|Q92776	Silent	SNP	ENST00000371079.1	37	c.627T>C	CCDS626.1																																																																																				0.438	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		14	22	0	0	0	1	0	14	22					C	64605808	T	C	64605808	2	2	48	1	0	0	0	0	0	0	0	1	13541	1800	63	4		4	ROR1	1	64605808	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	650017	64605808	184644813	126	4594										
SGIP1	84251	broad.mit.edu	37	chr1	67109320	67109320	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caagattaaaccattgcaatCtaaagacattcttaagaatg	5	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:67109320C>T	ENST00000371037.4	+	7	454	c.377C>T	c.(376-378)tCt>tTt	p.S126F	SGIP1_ENST00000371036.3_Missense_Mutation_p.S101F|SGIP1_ENST00000371035.3_Missense_Mutation_p.S83F|SGIP1_ENST00000237247.6_Missense_Mutation_p.S130F|SGIP1_ENST00000371039.1_Missense_Mutation_p.S102F|SGIP1_ENST00000468286.1_3'UTR	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	126					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						CCATTGCAATCTAAAGACATT	0.373																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(376-378)tCt>tTt		SH3-domain GRB2-like (endophilin) interacting protein 1							128	127	127					1																	67109320		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.chr1:67109320C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.377C>T	1.37:g.67109320C>T	ENSP00000360076:p.Ser126Phe		Somatic				SGIP1_ENST00000371035.3_Missense_Mutation_p.S83F|SGIP1_ENST00000371036.3_Missense_Mutation_p.S101F|SGIP1_ENST00000371039.1_Missense_Mutation_p.S102F|SGIP1_ENST00000237247.6_Missense_Mutation_p.S130F|SGIP1_ENST00000468286.1_3'UTR	p.S126F	NM_032291.2	NP_115667.2	WXS	Illumina GAIIx	Phase_I	Q9BQI5	SGIP1_HUMAN			7	454	+			126					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.377C>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827173	0.90955	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.04317	3.65;3.65;3.65;3.65;3.65;3.65	5.3	5.3	0.74995	.	0.278676	0.36200	N	0.002732	T	0.03348	0.0097	L	0.34521	1.04	0.41646	D	0.989107	B	0.26258	0.145	B	0.31016	0.123	T	0.43782	-0.9370	10	0.66056	D	0.02	-7.6636	19.3168	0.94218	0.0:1.0:0.0:0.0	.	126	Q9BQI5	SGIP1_HUMAN	F	130;102;126;83;129;129;101;126	ENSP00000237247:S130F;ENSP00000360078:S102F;ENSP00000410439:S126F;ENSP00000360074:S83F;ENSP00000360075:S101F;ENSP00000360076:S126F	ENSP00000237247:S130F	S	+	2	0	SGIP1	66881908	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.326000	0.79133	2.631000	0.89168	0.655000	0.94253	TCT		0.373	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		32	67	0	0	0	1	0	32	67					T	67109320	C	T	67109320	3	4	48	1	0	0	0	0	1	0	0	0	14221	913	32	3	403	3	SGIP1	1	67109320	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2503512	67109320	182141301	127	4595										
SGIP1	84251	broad.mit.edu	37	chr1	67199467	67199467	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgccaataccaaggaattCtgggtaaacatgccaaattt	8	8	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:67199467C>A	ENST00000371037.4	+	21	2012	c.1935C>A	c.(1933-1935)ttC>ttA	p.F645L	SGIP1_ENST00000237247.6_Missense_Mutation_p.F676L|AL354978.1_ENST00000408728.2_RNA|SGIP1_ENST00000371039.1_Missense_Mutation_p.F448L|SGIP1_ENST00000435165.2_Missense_Mutation_p.F150L|SGIP1_ENST00000371036.3_Missense_Mutation_p.F447L|SGIP1_ENST00000371035.3_Missense_Mutation_p.F435L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	645	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				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						CCAAGGAATTCTGGGTAAACA	0.348																																						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.(1933-1935)ttC>ttA		SH3-domain GRB2-like (endophilin) interacting protein 1							129	127	128					1																	67199467		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.chr1:67199467C>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.1935C>A	1.37:g.67199467C>A	ENSP00000360076:p.Phe645Leu		Somatic				SGIP1_ENST00000371035.3_Missense_Mutation_p.F435L|SGIP1_ENST00000371036.3_Missense_Mutation_p.F447L|SGIP1_ENST00000371039.1_Missense_Mutation_p.F448L|SGIP1_ENST00000237247.6_Missense_Mutation_p.F676L|SGIP1_ENST00000435165.2_Missense_Mutation_p.F150L	p.F645L	NM_032291.2	NP_115667.2	WXS	Illumina GAIIx	Phase_I	Q9BQI5	SGIP1_HUMAN			21	2012	+			645					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1935C>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	35	5.499931	0.96355	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	6.0	6.0	0.97389	Muniscin C-terminal mu homology domain (1);	0.000000	0.85682	D	0.000000	T	0.66733	0.2819	M	0.62723	1.935	0.80722	D	1	D;D;D;D;B	0.63046	0.969;0.992;0.992;0.985;0.115	D;D;D;D;B	0.76071	0.964;0.987;0.987;0.977;0.444	T	0.61297	-0.7091	10	0.41790	T	0.15	-7.2327	20.4946	0.99205	0.0:1.0:0.0:0.0	.	675;150;247;435;645	A6NEV3;Q6ZV33;B3KR01;B7Z5H8;Q9BQI5	.;.;.;.;SGIP1_HUMAN	L	676;448;435;675;648;447;645;150	ENSP00000237247:F676L;ENSP00000360078:F448L;ENSP00000360074:F435L;ENSP00000360075:F447L;ENSP00000360076:F645L;ENSP00000395525:F150L	ENSP00000237247:F676L	F	+	3	2	SGIP1	66972055	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.703000	0.54808	2.846000	0.97976	0.650000	0.86243	TTC		0.348	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		21	36	1	0	3.62473e-10	1	4.42315e-10	21	36					A	67199467	C	A	67199467	3	1	48	1	0	0	0	0	1	0	0	0	14221	912	32	2	2017	2	SGIP1	1	67199467	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	90147	67199467	182051154	128	4596										
MIER1	57708	broad.mit.edu	37	chr1	67423799	67423799	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atggttatggtagtactgttCgactacctgaagaagatgag	12	5	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:67423799C>T	ENST00000355356.3	+	4	387	c.238C>T	c.(238-240)Cga>Tga	p.R80*	MIER1_ENST00000357692.2_Nonsense_Mutation_p.R97*|MIER1_ENST00000401042.3_Nonsense_Mutation_p.R80*|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000371014.1_Nonsense_Mutation_p.R133*|MIER1_ENST00000401041.1_Nonsense_Mutation_p.R133*|MIER1_ENST00000371018.3_Nonsense_Mutation_p.R97*|MIER1_ENST00000355977.6_Nonsense_Mutation_p.R17*|MIER1_ENST00000371016.1_Nonsense_Mutation_p.R97*	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	80	Glu-rich.				positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TAGTACTGTTCGACTACCTga	0.388																																						ENST00000357692.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						c.(289-291)Cga>Tga		mesoderm induction early response 1, transcriptional regulator							96	95	96					1																	67423799		1996	4169	6165	SO:0001587	stop_gained	57708				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr1:67423799C>T		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"mesoderm induction early response 1 homolog (Xenopus laevis)"			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.238C>T	1.37:g.67423799C>T	ENSP00000347514:p.Arg80*		Somatic				MIER1_ENST00000355356.3_Nonsense_Mutation_p.R80*|MIER1_ENST00000371016.1_Nonsense_Mutation_p.R97*|MIER1_ENST00000371014.1_Nonsense_Mutation_p.R133*|MIER1_ENST00000371018.3_Nonsense_Mutation_p.R97*|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000355977.6_Nonsense_Mutation_p.R17*|MIER1_ENST00000401042.3_Nonsense_Mutation_p.R80*|MIER1_ENST00000401041.1_Nonsense_Mutation_p.R133*	p.R97*	NM_001146110.1	NP_001139582.1	WXS	Illumina GAIIx	Phase_I	Q8N108	MIER1_HUMAN			6	546	+			104			Glu-rich.		C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Nonsense_Mutation	SNP	ENST00000355356.3	37	c.289C>T	CCDS41348.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989634	0.74589	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000355977;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	.	.	.	5.42	4.5	0.54988	.	0.370481	0.26207	N	0.025714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-35.4198	15.9762	0.80066	0.1357:0.8643:0.0:0.0	.	.	.	.	X	101;97;17;97;133;97;133;80;80	.	ENSP00000347514:R80X	R	+	1	2	MIER1	67196387	0.994000	0.37717	0.942000	0.38095	0.136000	0.21042	3.149000	0.50655	1.412000	0.46977	0.591000	0.81541	CGA		0.388	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948		21	33	0	0	0	1	0	21	33					T	67423799	C	T	67423799	4	4	48	1	0	0	0	0	0	1	0	0	9589	876	31	1	492	1	MIER1	1	67423799	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	224332	67423799	181826822	129	4597										
IL23R	149233	broad.mit.edu	37	chr1	67724382	67724382	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacactggatataaaccccaAatttcaaattttctgcctga	4	10	2	1	rs139858085		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:67724382A>G	ENST00000347310.5	+	11	1632	c.1461A>G	c.(1459-1461)caA>caG	p.Q487Q	IL23R_ENST00000395227.1_Silent_p.Q232Q|IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	487					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						ATAAACCCCAAATTTCAAATT	0.388																																						ENST00000347310.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1459-1461)caA>caG		interleukin 23 receptor							65	67	67					1																	67724382		2203	4300	6503	SO:0001819	synonymous_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67724382A>G	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1461A>G	1.37:g.67724382A>G			Somatic				IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.Q232Q	p.Q487Q	NM_144701.2	NP_653302.2	WXS	Illumina GAIIx	Phase_I	Q5VWK5	IL23R_HUMAN			11	1632	+			487					C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Silent	SNP	ENST00000347310.5	37	c.1461A>G	CCDS637.1	.	.	.	.	.	.	.	.	.	.	A	2.012	-0.426948	0.04701	.	.	ENSG00000162594	ENST00000425614	.	.	.	5.71	1.78	0.24846	.	.	.	.	.	T	0.39410	0.1077	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23332	-1.0191	4	.	.	.	-22.2877	6.7678	0.23576	0.3786:0.0:0.6214:0.0	.	.	.	.	R	249	.	.	K	+	2	0	IL23R	67496970	1.000000	0.71417	0.980000	0.43619	0.244000	0.25665	1.200000	0.32247	0.342000	0.23796	-0.248000	0.11899	AAA		0.388	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		21	50	0	0	0	1	0	21	50					G	67724382	A	G	67724382	2	3	48	1	0	0	0	0	0	0	0	1	7685	11	1	4		4	IL23R	1	67724382	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	300583	67724382	181526239	130	4598										
LRRC7	57554	broad.mit.edu	37	chr1	70505121	70505121	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gactgagtcccagttcctgaAaaggaatggcaggtatgaag	13	7	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:70505121A>C	ENST00000035383.5	+	19	3530	c.3500A>C	c.(3499-3501)aAa>aCa	p.K1167T	LRRC7_ENST00000310961.5_Missense_Mutation_p.K1172T|LRRC7_ENST00000415775.2_Missense_Mutation_p.K451T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1167						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						CAGTTCCTGAAAAGGAATGGC	0.512																																						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.(3514-3516)aAa>aCa		leucine rich repeat containing 7							63	65	64					1																	70505121		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70505121A>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.3500A>C	1.37:g.70505121A>C	ENSP00000035383:p.Lys1167Thr		Somatic				LRRC7_ENST00000415775.2_Missense_Mutation_p.K451T|LRRC7_ENST00000035383.5_Missense_Mutation_p.K1167T	p.K1172T			WXS	Illumina GAIIx	Phase_I	Q96NW7	LRRC7_HUMAN			22	3933	+			1167					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3515A>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.265276	0.40095	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.40225	1.04;1.12;2.21	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	L	0.53249	1.67	0.52501	D	0.999952	D;D;D	0.89917	1.0;0.982;0.999	D;P;D	0.78314	0.987;0.873;0.991	T	0.52931	-0.8509	10	0.51188	T	0.08	.	15.5887	0.76506	1.0:0.0:0.0:0.0	.	451;1167;1167	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	T	1172;1167;451;990	ENSP00000309245:K1172T;ENSP00000035383:K1167T;ENSP00000394867:K451T	ENSP00000035383:K1167T	K	+	2	0	LRRC7	70277709	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	8.664000	0.91139	2.275000	0.75901	0.528000	0.53228	AAA		0.512	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		23	58	0	0	0	1	0	23	58					C	70505121	A	C	70505121	3	2	48	1	0	0	0	0	1	0	0	0	9029	14	1	4	3574	4	LRRC7	1	70505121	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2780739	70505121	178745500	131	4599										
ANKRD13C	81573	broad.mit.edu	37	chr1	70742520	70742520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaggtgtaagagactgtcttCgaatcggctgccaaaaaaaa	11	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:70742520C>T	ENST00000370944.4	-	10	1536	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.R373Q|ANKRD13C_ENST00000464236.1_5'UTR	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	408					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AGACTGTCTTCGAATCGGCTG	0.313																																						ENST00000370944.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(1222-1224)cGa>cAa		ankyrin repeat domain 13C							59	63	62					1																	70742520		2203	4299	6502	SO:0001583	missense	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70742520C>T		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"Ankyrin repeat domain containing"	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.1223G>A	1.37:g.70742520C>T	ENSP00000359982:p.Arg408Gln		Somatic				ANKRD13C_ENST00000464236.1_5'UTR|ANKRD13C_ENST00000262346.6_Missense_Mutation_p.R373Q	p.R408Q	NM_030816.4	NP_110443.3	WXS	Illumina GAIIx	Phase_I	Q8N6S4	AN13C_HUMAN			10	1536	-			408					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	c.1223G>A	CCDS648.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297406	0.81025	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.43294	0.95;0.95	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.58921	0.2156	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.981;0.989	T	0.59590	-0.7426	10	0.46703	T	0.11	-0.5739	18.2515	0.90005	0.0:1.0:0.0:0.0	.	373;408	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	Q	408;373	ENSP00000359982:R408Q;ENSP00000262346:R373Q	ENSP00000262346:R373Q	R	-	2	0	ANKRD13C	70515108	1.000000	0.71417	0.989000	0.46669	0.669000	0.39330	7.109000	0.77062	2.564000	0.86499	0.563000	0.77884	CGA		0.313	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		22	29	0	0	0	1	0	22	29					T	70742520	C	T	70742520	3	4	48	1	0	0	0	0	1	0	0	0	643	884	31	1	418	1	ANKRD13C	1	70742520	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	237399	70742520	178508101	132	4600										
NEGR1	257194	broad.mit.edu	37	chr1	72058522	72058522	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttaagaggcaggctcgcattGgttgtgcctagcttgttggc	14	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:72058522G>A	ENST00000357731.5	-	6	1157	c.918C>T	c.(916-918)acC>acT	p.T306T	NEGR1_ENST00000306821.3_Silent_p.T178T|NEGR1_ENST00000434200.1_Silent_p.T260T	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	306	Ig-like C2-type 3.				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)		GGCTCGCATTGGTTGTGCCTA	0.463																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(916-918)acC>acT		neuronal growth regulator 1							126	125	125					1																	72058522		2203	4300	6503	SO:0001819	synonymous_variant	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72058522G>A	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.918C>T	1.37:g.72058522G>A			Somatic				NEGR1_ENST00000306821.3_Silent_p.T178T|NEGR1_ENST00000434200.1_Silent_p.T260T	p.T306T	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)	6	1157	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	306			Ig-like C2-type 3.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Silent	SNP	ENST00000357731.5	37	c.918C>T	CCDS661.1																																																																																				0.463	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		28	47	0	0	0	1	0	28	47					A	72058522	G	A	72058522	2	1	48	1	0	0	0	0	0	0	0	1	10326	1335	47	3		3	NEGR1	1	72058522	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1316002	72058522	177192099	133	4601										
LRRIQ3	127255	broad.mit.edu	37	chr1	74649284	74649284	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaacttcacaaaaacaaaatCtttttgaccttctcttatgt	3	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:74649284C>A	ENST00000395089.1	-	1	84	c.85G>T	c.(85-87)Gat>Tat	p.D29Y	LRRIQ3_ENST00000370911.3_Missense_Mutation_p.D29Y|LRRIQ3_ENST00000354431.4_Missense_Mutation_p.D29Y|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.D29Y			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	29										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						aaaacaAAATCTTTTTGACCT	0.333																																						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.(85-87)Gat>Tat		leucine-rich repeats and IQ motif containing 3							59	61	60					1																	74649284		2200	4295	6495	SO:0001583	missense	127255							g.chr1:74649284C>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.85G>T	1.37:g.74649284C>A	ENSP00000378524:p.Asp29Tyr		Somatic				LRRIQ3_ENST00000370909.2_Missense_Mutation_p.D29Y|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.D29Y|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.D29Y	p.D29Y	NM_001105659.1	NP_001099129.1	WXS	Illumina GAIIx	Phase_I	A6PVS8	LRIQ3_HUMAN			2	276	-			29					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.85G>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342447	0.61073	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972;ENST00000370911	T;T;T;T	0.39997	1.76;1.76;1.05;1.76	5.06	3.06	0.35304	.	0.545906	0.16530	N	0.210384	T	0.36744	0.0978	L	0.29908	0.895	0.33144	D	0.54483	D	0.89917	1.0	D	0.75484	0.986	T	0.32508	-0.9904	10	0.87932	D	0	.	9.85	0.41051	0.0:0.7777:0.1406:0.0817	.	29	A6PVS8	LRIQ3_HUMAN	Y	29	ENSP00000378524:D29Y;ENSP00000346414:D29Y;ENSP00000359946:D29Y;ENSP00000359948:D29Y	ENSP00000346414:D29Y	D	-	1	0	LRRIQ3	74421872	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.600000	0.46240	1.243000	0.43853	0.655000	0.94253	GAT		0.333	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		9	10	1	0	0.00621372	1	0.0064192	9	10					A	74649284	C	A	74649284	3	1	48	1	0	0	0	0	1	0	0	0	9039	913	32	2	1817	2	LRRIQ3	1	74649284	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2590762	74649284	174601337	134	4602										
FPGT	8790	broad.mit.edu	37	chr1	74670325	74670325	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctcatccttctagtttgacGataggtaccacacatggagt	9	10	2	1	rs186422789		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:74670325G>A	ENST00000609362.1	+	4	631	c.594G>A	c.(592-594)acG>acA	p.T198T	TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000370898.3_Silent_p.T211T|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	198					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						CTAGTTTGACGATAGGTACCA	0.373													G|||	1	0.000199681	0	0.0014	5008	,	,		18307	0		0	False		,,,				2504	0					ENST00000370898.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(592-594)acG>acA		fucose-1-phosphate guanylyltransferase		G	,,,,	2,4404	4.2+/-10.8	0,2,2201	111	108	109		,,,,594	-11.1	0.7	1		109	0,8600		0,0,4300	no	intron,intron,intron,intron,coding-synonymous	FPGT,FPGT-TNNI3K	NM_001112808.2,NM_001199327.1,NM_001199328.1,NM_001199329.1,NM_003838.3	,,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,,	,,,,198/595	74670325	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8790							g.chr1:74670325G>A	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.594G>A	1.37:g.74670325G>A			Somatic				FPGT_ENST00000370894.4_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|TNNI3K_ENST00000370893.1_Intron	p.T198T	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2	WXS	Illumina GAIIx	Phase_I					4	631	+								A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Silent	SNP	ENST00000609362.1	37	c.594G>A	CCDS663.1																																																																																				0.373	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	29	0	0	0	1	0	12	29					A	74670325	G	A	74670325	2	1	48	1	0	0	0	0	0	0	0	1	6045	1045	37	1		1	FPGT	1	74670325	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	21041	74670325	174580296	135	4603										
TNNI3K	100526835	broad.mit.edu	37	chr1	74801723	74801723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttcttttgaaatttggtgCtgatgtaaatgtaagtggtg	11	4	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:74801723C>T	ENST00000370899.3	+	9	912	c.875C>T	c.(874-876)gCt>gTt	p.A292V	TNNI3K_ENST00000370891.2_Missense_Mutation_p.A292V|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.A292V|TNNI3K_ENST00000326637.3_Missense_Mutation_p.A191V|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.A305V	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		AAATTTGGTGCTGATGTAAAT	0.358																																						ENST00000370895.1																			0											c.(874-876)gCt>gTt									106	104	104					1																	74801723		2203	4300	6503	SO:0001583	missense	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74801723C>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.875C>T	1.37:g.74801723C>T	ENSP00000359936:p.Ala292Val		Somatic				TNNI3K_ENST00000326637.3_Missense_Mutation_p.A191V|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.A292V|TNNI3K_ENST00000370891.2_Missense_Mutation_p.A292V|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.A292V	p.A292V			WXS	Illumina GAIIx	Phase_I	Q59H18	TNI3K_HUMAN			9	910	+			191						Missense_Mutation	SNP	ENST00000370899.3	37	c.875C>T		.	.	.	.	.	.	.	.	.	.	C	32	5.128998	0.94473	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.23	5.23	0.72850	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.43678	0.1258	M	0.62154	1.92	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;0.998	D;D;D;D	0.81914	0.995;0.957;0.96;0.988	T	0.36089	-0.9762	10	0.87932	D	0	.	18.9881	0.92780	0.0:1.0:0.0:0.0	.	191;292;292;292	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	V	292;292;292;292;191	ENSP00000359936:A292V;ENSP00000359932:A292V;ENSP00000450895:A292V;ENSP00000359928:A292V;ENSP00000322251:A191V	ENSP00000322251:A191V	A	+	2	0	RP11-653A5.2;AC093158.1	74574311	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.492000	0.66893	2.725000	0.93324	0.585000	0.79938	GCT		0.358	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			8	25	0	0	0	1	0	8	25					T	74801723	C	T	74801723	3	4	48	1	0	0	0	0	1	0	0	0	16344	797	28	3	953	3	TNNI3K	1	74801723	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	131398	74801723	174448898	136	4604										
TNNI3K	100526835	broad.mit.edu	37	chr1	74835209	74835209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaatgatcccagccagtttgCcattgtcactcaatacatat	6	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:74835209C>T	ENST00000370899.3	+	18	1947	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	TNNI3K_ENST00000370891.2_Missense_Mutation_p.A637V|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.A637V|TNNI3K_ENST00000326637.3_Missense_Mutation_p.A536V|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.A650V	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		AGCCAGTTTGCCATTGTCACT	0.468																																						ENST00000370895.1																			0											c.(1909-1911)gCc>gTc									256	226	236					1																	74835209		2203	4300	6503	SO:0001583	missense	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74835209C>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1910C>T	1.37:g.74835209C>T	ENSP00000359936:p.Ala637Val		Somatic				TNNI3K_ENST00000326637.3_Missense_Mutation_p.A536V|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.A637V|TNNI3K_ENST00000370891.2_Missense_Mutation_p.A637V|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.A637V	p.A637V			WXS	Illumina GAIIx	Phase_I	Q59H18	TNI3K_HUMAN			18	1945	+			536		T -> M (in dbSNP:rs2274260).	Protein kinase.			Missense_Mutation	SNP	ENST00000370899.3	37	c.1910C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.261566|5.261566	0.95368|0.95368	.|.	.|.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783;ENSG00000116783|ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637;ENST00000534020|ENST00000526236;ENST00000525480	T;T;T;T;T;T|.	0.33865|.	1.39;1.39;1.39;1.39;1.39;1.39|.	5.27|5.27	5.27|5.27	0.74061|0.74061	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45498|0.45498	0.1345|0.1345	N|N	0.25380|0.25380	0.74|0.74	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.996|.	D;D;D;D|.	0.79784|.	0.993;0.988;0.988;0.99|.	T|T	0.39722|0.39722	-0.9600|-0.9600	10|5	0.52906|.	T|.	0.07|.	.|.	18.8831|18.8831	0.92364|0.92364	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	536;637;637;637|.	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3|.	TNI3K_HUMAN;.;.;.|.	V|S	637;637;637;637;536;60|83;56	ENSP00000359936:A637V;ENSP00000359932:A637V;ENSP00000450895:A637V;ENSP00000359928:A637V;ENSP00000322251:A536V;ENSP00000434975:A60V|.	ENSP00000322251:A536V|.	A|P	+|+	2|1	0|0	RP11-653A5.2;AC093158.1|AC093158.1	74607797|74607797	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.355000|7.355000	0.79434|0.79434	2.449000|2.449000	0.82847|0.82847	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.468	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			27	62	0	0	0	1	0	27	62					T	74835209	C	T	74835209	3	4	48	1	0	0	0	0	1	0	0	0	16344	739	26	3	2024	3	TNNI3K	1	74835209	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	33486	74835209	174415412	137	4605										
C1orf173	127254	broad.mit.edu	37	chr1	75039084	75039084	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctccattgcttctttcttCtccagtgtatacgttttttg	5	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:75039084C>A	ENST00000326665.5	-	14	2528	c.2310G>T	c.(2308-2310)gaG>gaT	p.E770D	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		770	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						CTTCTTTCTTCTCCAGTGTAT	0.463																																						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.(2308-2310)gaG>gaT		chromosome 1 open reading frame 173							102	104	103					1																	75039084		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75039084C>A																												ENST00000326665.5:c.2310G>T	1.37:g.75039084C>A	ENSP00000322609:p.Glu770Asp		Somatic				C1orf173_ENST00000433746.2_5'UTR	p.E770D	NM_001002912.4	NP_001002912.4	WXS	Illumina GAIIx	Phase_I	Q5RHP9	CA173_HUMAN			14	2528	-			770			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2310G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	9.671	1.146604	0.21288	.	.	ENSG00000178965	ENST00000326665	T	0.14640	2.49	4.99	2.07	0.26955	.	.	.	.	.	T	0.05410	0.0143	L	0.36672	1.1	0.09310	N	1	P	0.51933	0.949	P	0.49085	0.6	T	0.29488	-1.0010	9	0.31617	T	0.26	-0.0886	6.0061	0.19547	0.0:0.6172:0.1374:0.2454	.	770	Q5RHP9	CA173_HUMAN	D	770	ENSP00000322609:E770D	ENSP00000322609:E770D	E	-	3	2	C1orf173	74811672	0.315000	0.24571	0.005000	0.12908	0.003000	0.03518	3.350000	0.52224	0.525000	0.28522	-0.136000	0.14681	GAG		0.463	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			5	78	1	0	1.23904e-05	1	1.36503e-05	5	78					A	75039084	C	A	75039084	3	1	48	1	0	0	0	0	1	0	0	0	2016	912	32	2	2286	2	C1orf173	1	75039084	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	203875	75039084	174211537	138	4606										
ST6GALNAC3	256435	broad.mit.edu	37	chr1	77094422	77094422	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cataggtttatcactgaaaaGaaagtgtttgctaaatgggc	10	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:77094422G>T	ENST00000328299.3	+	5	997	c.849G>T	c.(847-849)aaG>aaT	p.K283N		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	283					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TCACTGAAAAGAAAGTGTTTG	0.388																																						ENST00000328299.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(847-849)aaG>aaT		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3							159	162	161					1																	77094422		2203	4299	6502	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77094422G>T		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"Sialyltransferases"	19343	protein-coding gene	gene with protein product	"ST6GALNAC III"	610133	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.849G>T	1.37:g.77094422G>T	ENSP00000329214:p.Lys283Asn		Somatic					p.K283N	NM_152996.2	NP_694541.2	WXS	Illumina GAIIx	Phase_I	Q8NDV1	SIA7C_HUMAN			5	997	+			283					Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.849G>T	CCDS672.1	.	.	.	.	.	.	.	.	.	.	g	17.16	3.318164	0.60524	.	.	ENSG00000184005	ENST00000328299;ENST00000394993;ENST00000415813	T	0.32023	1.47	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	M	0.87180	2.865	0.51767	D	0.99993	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.57757	-0.7756	10	0.66056	D	0.02	-22.2725	11.305	0.49329	0.1411:0.0:0.8589:0.0	.	182;283	B4DM98;Q8NDV1	.;SIA7C_HUMAN	N	283;282;181	ENSP00000329214:K283N	ENSP00000329214:K283N	K	+	3	2	ST6GALNAC3	76867010	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.974000	0.56852	2.761000	0.94854	0.645000	0.84053	AAG		0.388	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		28	49	1	0	7.41945e-09	1	8.8016e-09	28	49					T	77094422	G	T	77094422	3	4	48	1	0	0	0	0	1	0	0	0	15240	933	33	2	881	2	ST6GALNAC3	1	77094422	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2055338	77094422	172156199	139	4607										
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77509986	77509986	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gattgaccagacagagtgtgTcatccgcatgaatgacgccc	11	11	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:77509986T>C	ENST00000477717.1	+	3	594	c.359T>C	c.(358-360)gTc>gCc	p.V120A		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	120					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						ACAGAGTGTGTCATCCGCATG	0.612																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(358-360)gTc>gCc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5							64	58	60					1																	77509986		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77509986T>C		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.359T>C	1.37:g.77509986T>C	ENSP00000417583:p.Val120Ala		Somatic					p.V120A	NM_030965.1	NP_112227.1	WXS	Illumina GAIIx	Phase_I	Q9BVH7	SIA7E_HUMAN			3	594	+			120					B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.359T>C	CCDS673.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818779	0.90873	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.60672	0.17	5.63	5.63	0.86233	.	0.053251	0.85682	D	0.000000	T	0.80879	0.4708	H	0.95884	3.735	0.80722	D	1	D	0.65815	0.995	D	0.72075	0.976	D	0.87370	0.2350	10	0.87932	D	0	-24.8361	15.8388	0.78824	0.0:0.0:0.0:1.0	.	120	Q9BVH7	SIA7E_HUMAN	A	120;30	ENSP00000417583:V120A	ENSP00000436263:V120A	V	+	2	0	ST6GALNAC5	77282574	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.581000	0.82535	2.137000	0.66172	0.482000	0.46254	GTC		0.612	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		4	57	0	0	0	1	0	4	57					C	77509986	T	C	77509986	3	2	48	1	0	0	0	0	1	0	0	0	15242	1667	58	4	369	4	ST6GALNAC5	1	77509986	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	415564	77509986	171740635	140	4608										
AK5	26289	broad.mit.edu	37	chr1	77752766	77752766	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccaggaaaagaagaccttAcctccactaaatggaggaca	9	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:77752766A>T	ENST00000354567.2	+	2	464	c.201A>T	c.(199-201)ttA>ttT	p.L67F	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000344720.5_Missense_Mutation_p.L41F	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	67					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AGAAGACCTTACCTCCACTAA	0.363																																						ENST00000344720.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.(121-123)ttA>ttT		adenylate kinase 5							88	86	87					1																	77752766		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77752766A>T	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.201A>T	1.37:g.77752766A>T	ENSP00000346577:p.Leu67Phe		Somatic				AK5_ENST00000354567.2_Missense_Mutation_p.L67F|AK5_ENST00000317704.4_3'UTR	p.L41F	NM_012093.3	NP_036225.2	WXS	Illumina GAIIx	Phase_I	Q9Y6K8	KAD5_HUMAN			2	1149	+			67					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.123A>T	CCDS675.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.658625	0.67586	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;D;D	0.85484	-0.7;-1.58;-1.99	5.59	-0.708	0.11241	.	0.000000	0.64402	D	0.000007	T	0.79633	0.4479	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.942;0.994	T	0.78373	-0.2229	10	0.72032	D	0.01	.	6.7047	0.23244	0.5217:0.1258:0.3525:0.0	.	67;67	Q9Y6K8;Q8N291	KAD5_HUMAN;.	F	67;41;41	ENSP00000346577:L67F;ENSP00000341430:L41F;ENSP00000434409:L41F	ENSP00000341430:L41F	L	+	3	2	AK5	77525354	0.999000	0.42202	0.948000	0.38648	0.867000	0.49689	0.773000	0.26661	-0.069000	0.12931	-0.256000	0.11100	TTA		0.363	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		5	61	0	0	0	1	0	5	61					T	77752766	A	T	77752766	3	4	48	1	0	0	0	0	1	0	0	0	443	388	14	4	207	4	AK5	1	77752766	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	242780	77752766	171497855	141	4609										
NEXN	91624	broad.mit.edu	37	chr1	78392235	78392235	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caagtacgaggaagataaaaGaataagatatgaagaacaac	9	4	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:78392235G>T	ENST00000334785.7	+	7	810	c.626G>T	c.(625-627)aGa>aTa	p.R209I	NEXN_ENST00000457030.1_Missense_Mutation_p.R195I|NEXN_ENST00000330010.8_Missense_Mutation_p.R145I	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAGATAAAAGAATAAGATAT	0.299																																						ENST00000330010.8																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(433-435)aGa>aTa		nexilin (F actin binding protein)							119	116	117					1																	78392235		1823	4084	5907	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78392235G>T	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.626G>T	1.37:g.78392235G>T	ENSP00000333938:p.Arg209Ile		Somatic				NEXN_ENST00000457030.1_Missense_Mutation_p.R195I|NEXN_ENST00000334785.7_Missense_Mutation_p.R209I	p.R145I	NM_001172309.1	NP_001165780.1	WXS	Illumina GAIIx	Phase_I	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	6	731	+			209			Glu-rich.			Missense_Mutation	SNP	ENST00000334785.7	37	c.434G>T	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.992|5.992	0.366918|0.366918	0.11352|0.11352	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000342754|ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324	.|T;T;T;T;T	.|0.65364	.|-0.13;0.27;0.17;0.16;-0.15	4.43|4.43	4.43|4.43	0.53597|0.53597	.|.	.|0.120124	.|0.36268	.|N	.|0.002691	.|T	.|0.36580	.|0.0972	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.27853	.|0.164;0.191;0.121;0.121	.|B;B;B;B	.|0.29942	.|0.051;0.109;0.051;0.051	.|T	.|0.44236	.|-0.9341	.|10	.|0.51188	.|T	.|0.08	-16.0265|-16.0265	8.7927|8.7927	0.34861|0.34861	0.1832:0.0:0.8168:0.0|0.1832:0.0:0.8168:0.0	.|.	.|145;195;209;145	.|D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.|.;.;NEXN_HUMAN;.	X|I	109|145;195;145;209;195	.|ENSP00000383814:R145I;ENSP00000388048:R195I;ENSP00000327363:R145I;ENSP00000333938:R209I;ENSP00000411902:R195I	.|ENSP00000327363:R145I	E|R	+|+	1|2	0|0	NEXN|NEXN	78164823|78164823	0.004000|0.004000	0.15560|0.15560	0.965000|0.965000	0.40720|0.40720	0.014000|0.014000	0.08584|0.08584	0.008000|0.008000	0.13197|0.13197	2.392000|2.392000	0.81423|0.81423	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.299	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		10	59	1	0	4.68919e-08	1	5.48405e-08	10	59					T	78392235	G	T	78392235	3	4	48	1	0	0	0	0	1	0	0	0	10364	942	33	2	648	2	NEXN	1	78392235	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	639469	78392235	170858386	142	4610										
NEXN	91624	broad.mit.edu	37	chr1	78401572	78401572	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaactgatcaaattaaaaaGgagtggctctattcaagcta	8	6	3	2	rs200002561		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:78401572G>T	ENST00000334785.7	+	11	1500	c.1316G>T	c.(1315-1317)aGg>aTg	p.R439M	NEXN_ENST00000480732.2_3'UTR|NEXN_ENST00000457030.1_Missense_Mutation_p.R425M|NEXN_ENST00000330010.8_Missense_Mutation_p.R375M	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAATTAAAAAGGAGTGGCTCT	0.313																																						ENST00000330010.8																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1123-1125)aGg>aTg		nexilin (F actin binding protein)							49	49	49					1																	78401572		1797	4058	5855	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78401572G>T	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1316G>T	1.37:g.78401572G>T	ENSP00000333938:p.Arg439Met		Somatic				NEXN_ENST00000480732.1_3'UTR|NEXN_ENST00000457030.1_Missense_Mutation_p.R425M|NEXN_ENST00000334785.7_Missense_Mutation_p.R439M	p.R375M	NM_001172309.1	NP_001165780.1	WXS	Illumina GAIIx	Phase_I	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	10	1421	+			439			Glu-rich.			Missense_Mutation	SNP	ENST00000334785.7	37	c.1124G>T	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.869359|4.869359	0.91587|0.91587	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000342754|ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324	.|T;T;T;T	.|0.78364	.|-0.34;-0.34;-0.03;-1.17	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.000000	.|0.64402	.|D	.|0.000018	.|D	.|0.86686	.|0.5992	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.991;0.979;0.999	.|D	.|0.84835	.|0.0804	.|10	.|0.51188	.|T	.|0.08	-14.9207|-14.9207	20.5632|20.5632	0.99335|0.99335	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|375;425;439;375	.|D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.|.;.;NEXN_HUMAN;.	X|M	339|425;375;439;425	.|ENSP00000388048:R425M;ENSP00000327363:R375M;ENSP00000333938:R439M;ENSP00000411902:R425M	.|ENSP00000327363:R375M	G|R	+|+	1|2	0|0	NEXN|NEXN	78174160|78174160	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.909000|7.909000	0.87444|0.87444	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGA|AGG		0.313	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		13	19	1	0	7.03913e-09	1	8.36985e-09	13	19					T	78401572	G	T	78401572	3	4	48	1	0	0	0	0	1	0	0	0	10364	1000	35	5	1354	5	NEXN	1	78401572	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	9337	78401572	170849049	143	4611										
NEXN	91624	broad.mit.edu	37	chr1	78401718	78401718	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttaaagagcgagaagctgaaAattttcatgaggtatattac	9	4	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:78401718A>C	ENST00000334785.7	+	11	1646	c.1462A>C	c.(1462-1464)Aat>Cat	p.N488H	NEXN_ENST00000480732.2_3'UTR|NEXN_ENST00000457030.1_Missense_Mutation_p.N474H|NEXN_ENST00000330010.8_Missense_Mutation_p.N424H	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AGAAGCTGAAAATTTTCATGA	0.294																																						ENST00000330010.8																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1270-1272)Aat>Cat		nexilin (F actin binding protein)							65	66	66					1																	78401718		1797	4062	5859	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78401718A>C	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1462A>C	1.37:g.78401718A>C	ENSP00000333938:p.Asn488His		Somatic				NEXN_ENST00000480732.1_3'UTR|NEXN_ENST00000457030.1_Missense_Mutation_p.N474H|NEXN_ENST00000334785.7_Missense_Mutation_p.N488H	p.N424H	NM_001172309.1	NP_001165780.1	WXS	Illumina GAIIx	Phase_I	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	10	1567	+			488			Glu-rich.			Missense_Mutation	SNP	ENST00000334785.7	37	c.1270A>C	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.68|11.68	1.710966|1.710966	0.30322|0.30322	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000342754|ENST00000457030;ENST00000330010;ENST00000334785	.|T;T;T	.|0.59638	.|0.33;0.25;0.33	5.83|5.83	-1.12|-1.12	0.09808|0.09808	.|.	.|0.496053	.|0.18099	.|N	.|0.151755	T|T	0.21962|0.21962	0.0529|0.0529	N|N	0.11201|0.11201	0.11|0.11	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.06405	.|0.001;0.001;0.002;0.001	T|T	0.04203|0.04203	-1.0969|-1.0969	5|10	.|0.36615	.|T	.|0.2	-1.7187|-1.7187	18.7982|18.7982	0.92005|0.92005	0.3593:0.6406:0.0:0.0|0.3593:0.6406:0.0:0.0	.|.	.|424;474;488;424	.|D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.|.;.;NEXN_HUMAN;.	N|H	387|474;424;488	.|ENSP00000388048:N474H;ENSP00000327363:N424H;ENSP00000333938:N488H	.|ENSP00000327363:N424H	K|N	+|+	3|1	2|0	NEXN|NEXN	78174306|78174306	0.912000|0.912000	0.30974|0.30974	0.987000|0.987000	0.45799|0.45799	0.896000|0.896000	0.52359|0.52359	0.222000|0.222000	0.17699|0.17699	-0.153000|-0.153000	0.11137|0.11137	0.454000|0.454000	0.30748|0.30748	AAA|AAT		0.294	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		14	25	0	0	0	1	0	14	25					C	78401718	A	C	78401718	3	2	48	1	0	0	0	0	1	0	0	0	10364	14	1	4	1500	4	NEXN	1	78401718	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	146	78401718	170848903	144	4612										
DNAJB4	11080	broad.mit.edu	37	chr1	78479068	78479068	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taccaaacggatgaagatttCtcgaaaaaggctaaacgctg	9	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:78479068C>A	ENST00000370763.5	+	2	802	c.545C>A	c.(544-546)tCt>tAt	p.S182Y	DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	182					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						ATGAAGATTTCTCGAAAAAGG	0.403																																						ENST00000370763.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(544-546)tCt>tAt		DnaJ (Hsp40) homolog, subfamily B, member 4							95	100	98					1																	78479068		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.chr1:78479068C>A	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.545C>A	1.37:g.78479068C>A	ENSP00000359799:p.Ser182Tyr		Somatic				GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	p.S182Y	NM_007034.3	NP_008965.2	WXS	Illumina GAIIx	Phase_I	Q9UDY4	DNJB4_HUMAN			2	802	+			182					B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	c.545C>A	CCDS684.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600848	0.66332	.	.	ENSG00000162616	ENST00000370763	D	0.84223	-1.82	5.22	5.22	0.72569	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	M	0.85197	2.74	0.80722	D	1	D	0.71674	0.998	P	0.61658	0.892	D	0.92761	0.6224	10	0.87932	D	0	.	18.8295	0.92132	0.0:1.0:0.0:0.0	.	182	Q9UDY4	DNJB4_HUMAN	Y	182	ENSP00000359799:S182Y	ENSP00000359799:S182Y	S	+	2	0	DNAJB4	78251656	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.814000	0.86154	2.416000	0.81992	0.650000	0.86243	TCT		0.403	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			27	52	1	0	3.73808e-20	1	5.11168e-20	27	52					A	78479068	C	A	78479068	3	1	48	1	0	0	0	0	1	0	0	0	4624	913	32	2	551	2	DNAJB4	1	78479068	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	77350	78479068	170771553	145	4613										
LPHN2	23266	broad.mit.edu	37	chr1	82447575	82447575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctttttattaatgaggagaCtattgtgatggcatatctct	9	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:82447575C>T	ENST00000370728.1	+	21	3830	c.3185C>T	c.(3184-3186)aCt>aTt	p.T1062I	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.T1062I|LPHN2_ENST00000370727.1_Missense_Mutation_p.T1077I|LPHN2_ENST00000370725.1_Missense_Mutation_p.T1077I|LPHN2_ENST00000394879.1_Missense_Mutation_p.T1064I|LPHN2_ENST00000370717.2_Missense_Mutation_p.T1077I|LPHN2_ENST00000370713.1_Missense_Mutation_p.T1049I|LPHN2_ENST00000370715.1_Missense_Mutation_p.T1049I|LPHN2_ENST00000370723.1_Missense_Mutation_p.T1064I|LPHN2_ENST00000359929.3_Missense_Mutation_p.T1049I|LPHN2_ENST00000370721.1_Missense_Mutation_p.T987I|LPHN2_ENST00000319517.6_Missense_Mutation_p.T1049I|LPHN2_ENST00000370730.1_Missense_Mutation_p.T1062I|LPHN2_ENST00000271029.4_Missense_Mutation_p.T1077I			O95490	LPHN2_HUMAN	latrophilin 2	1062					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATGAGGAGACTATTGTGATG	0.398																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(3184-3186)aCt>aTt		latrophilin 2							187	187	187					1																	82447575		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82447575C>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3185C>T	1.37:g.82447575C>T	ENSP00000359763:p.Thr1062Ile		Somatic				LPHN2_ENST00000359929.3_Missense_Mutation_p.T1049I|LPHN2_ENST00000271029.4_Missense_Mutation_p.T1077I|LPHN2_ENST00000335786.5_Missense_Mutation_p.T1062I|LPHN2_ENST00000370727.1_Missense_Mutation_p.T1077I|LPHN2_ENST00000370730.1_Missense_Mutation_p.T1062I|LPHN2_ENST00000370713.1_Missense_Mutation_p.T1049I|LPHN2_ENST00000370715.1_Missense_Mutation_p.T1049I|LPHN2_ENST00000370725.1_Missense_Mutation_p.T1077I|LPHN2_ENST00000370717.2_Missense_Mutation_p.T1077I|LPHN2_ENST00000319517.6_Missense_Mutation_p.T1049I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.T1064I|LPHN2_ENST00000370723.1_Missense_Mutation_p.T1064I|LPHN2_ENST00000370721.1_Missense_Mutation_p.T987I	p.T1062I			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)	21	3830	+			1062					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.3185C>T		.	.	.	.	.	.	.	.	.	.	C	19.25	3.790874	0.70452	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.74	5.74	0.90152	GPCR, family 2-like (1);	0.056789	0.64402	D	0.000001	T	0.53190	0.1781	M	0.64080	1.96	0.58432	D	0.999998	P;D;P;D	0.55800	0.956;0.973;0.89;0.973	P;P;P;P	0.57720	0.826;0.802;0.466;0.733	T	0.55379	-0.8150	10	0.87932	D	0	.	19.9253	0.97100	0.0:1.0:0.0:0.0	.	1062;1049;1049;1049	O95490;O95490-3;O95490-4;O95490-2	LPHN2_HUMAN;.;.;.	I	987;1062;1062;1077;1077;1064;1049;1049;1049;1049;1077;1064;1077;1062	ENSP00000359756:T987I;ENSP00000359763:T1062I;ENSP00000359765:T1062I;ENSP00000359762:T1077I;ENSP00000359760:T1077I;ENSP00000359758:T1064I;ENSP00000353006:T1049I;ENSP00000359750:T1049I;ENSP00000359748:T1049I;ENSP00000322270:T1049I;ENSP00000359752:T1077I;ENSP00000378344:T1064I;ENSP00000271029:T1077I;ENSP00000337306:T1062I	ENSP00000271029:T1077I	T	+	2	0	LPHN2	82220163	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.692000	0.91855	0.650000	0.86243	ACT		0.398	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		40	78	0	0	0	1	0	40	78					T	82447575	C	T	82447575	3	4	48	1	0	0	0	0	1	0	0	0	8925	565	20	3	3208	3	LPHN2	1	82447575	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3968507	82447575	166803046	146	4614										
TTLL7	79739	broad.mit.edu	37	chr1	84386806	84386806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcgattttcatgttcttctCgtgagatctgctttcgtact	8	9	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:84386806C>T	ENST00000260505.8	-	12	1705	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	443					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ATGTTCTTCTCGTGAGATCTG	0.323																																						ENST00000260505.8																			0				kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1327-1329)cGa>cAa		tubulin tyrosine ligase-like family, member 7							151	141	144					1																	84386806		2202	4300	6502	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84386806C>T	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"Tubulin tyrosine ligase-like family"	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1328G>A	1.37:g.84386806C>T	ENSP00000260505:p.Arg443Gln		Somatic				TTLL7_ENST00000477524.1_5'UTR	p.R443Q	NM_024686.4	NP_078962.4	WXS	Illumina GAIIx	Phase_I	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	12	1705	-			443					Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.1328G>A	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593269	0.46214	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.03860	3.78	5.85	2.55	0.30701	.	0.251057	0.47093	N	0.000245	T	0.01029	0.0034	L	0.28115	0.83	0.29637	N	0.845012	B	0.15930	0.015	B	0.09377	0.004	T	0.49570	-0.8926	10	0.21540	T	0.41	.	7.28	0.26306	0.0:0.3502:0.0:0.6498	.	443	Q6ZT98	TTLL7_HUMAN	Q	443;220;443	ENSP00000260505:R443Q	ENSP00000260505:R443Q	R	-	2	0	TTLL7	84159394	0.996000	0.38824	0.478000	0.27316	0.978000	0.69477	0.891000	0.28309	0.311000	0.23014	0.643000	0.83706	CGA		0.323	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		22	33	0	0	0	1	0	22	33					T	84386806	C	T	84386806	3	4	48	1	0	0	0	0	1	0	0	0	16747	884	31	1	1375	1	TTLL7	1	84386806	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1939231	84386806	164863815	147	4615										
TTLL7	79739	broad.mit.edu	37	chr1	84403608	84403608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtaaaccatttgatggaaCgtttgctgcctttgttctca	8	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:84403608C>T	ENST00000260505.8	-	8	1192	c.815G>A	c.(814-816)cGt>cAt	p.R272H	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	272	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTTGATGGAACGTTTGCTGCC	0.368																																						ENST00000260505.8																			0				kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(814-816)cGt>cAt		tubulin tyrosine ligase-like family, member 7							288	255	266					1																	84403608		2203	4300	6503	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84403608C>T	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"Tubulin tyrosine ligase-like family"	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.815G>A	1.37:g.84403608C>T	ENSP00000260505:p.Arg272His		Somatic				TTLL7_ENST00000477524.1_5'UTR	p.R272H	NM_024686.4	NP_078962.4	WXS	Illumina GAIIx	Phase_I	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	8	1192	-			272			TTL.		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.815G>A	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	34	5.361805	0.95877	.	.	ENSG00000137941	ENST00000260505;ENST00000370703	T	0.05717	3.4	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.24890	0.0604	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01781	-1.1275	10	0.62326	D	0.03	.	20.1708	0.98159	0.0:1.0:0.0:0.0	.	272	Q6ZT98	TTLL7_HUMAN	H	272	ENSP00000260505:R272H	ENSP00000260505:R272H	R	-	2	0	TTLL7	84176196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.447000	0.80620	2.761000	0.94854	0.655000	0.94253	CGT		0.368	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		8	86	0	0	0	1	0	8	86					T	84403608	C	T	84403608	3	4	48	1	0	0	0	0	1	0	0	0	16747	536	19	1	1904	1	TTLL7	1	84403608	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	16802	84403608	164847013	148	4616										
LPAR3	23566	broad.mit.edu	37	chr1	85331550	85331550	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcctgtgttaaacatcaggAatacataggcaattccagcg	10	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:85331550A>C	ENST00000440886.1	-	1	292	c.254T>G	c.(253-255)tTc>tGc	p.F85C	LPAR3_ENST00000370611.3_Missense_Mutation_p.F85C|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	85					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AAACATCAGGAATACATAGGC	0.463																																						ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(253-255)tTc>tGc		lysophosphatidic acid receptor 3							117	121	120					1																	85331550		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331550A>C	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.254T>G	1.37:g.85331550A>C	ENSP00000395389:p.Phe85Cys		Somatic				LPAR3_ENST00000370611.3_Missense_Mutation_p.F85C|LPAR3_ENST00000491034.1_5'UTR	p.F85C			WXS	Illumina GAIIx	Phase_I	Q9UBY5	LPAR3_HUMAN			1	292	-			85					A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.254T>G	CCDS700.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.233195	0.58777	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.40476	1.03;1.03	5.62	1.86	0.25419	GPCR, rhodopsin-like superfamily (1);	0.203404	0.53938	D	0.000058	T	0.38532	0.1044	M	0.73962	2.25	0.42711	D	0.993642	P	0.48764	0.915	P	0.52957	0.714	T	0.24297	-1.0164	10	0.38643	T	0.18	.	10.683	0.45826	0.6117:0.0:0.0:0.3883	.	85	Q9UBY5	LPAR3_HUMAN	C	85	ENSP00000395389:F85C;ENSP00000359643:F85C	ENSP00000359643:F85C	F	-	2	0	LPAR3	85104138	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	3.066000	0.50002	0.055000	0.16094	0.482000	0.46254	TTC		0.463	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		82	124	0	0	0	1	0	82	124					C	85331550	A	C	85331550	3	2	48	1	0	0	0	0	1	0	0	0	8915	246	9	4	815	4	LPAR3	1	85331550	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	927942	85331550	163919071	149	4617										
BCL10	8915	broad.mit.edu	37	chr1	85736388	85736388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttctgtgttttttctcgccGaatagattcaacaagggtgt	10	7	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:85736388G>A	ENST00000370580.1	-	2	996	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	87	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		TTTTCTCGCCGAATAGATTCA	0.353			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	ENST00000370580.1				Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT		0				haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19						c.(259-261)Cgg>Tgg		B-cell CLL/lymphoma 10							111	113	112					1																	85736388		2203	4300	6503	SO:0001583	missense	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85736388G>A	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"CARD-like apoptotic protein", "CARD-containing apoptotic signaling protein", "CARD containing molecule enhancing NF-kB", "caspase-recruiting domain-containing protein", "CARD-containing proapoptotic protein"	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.259C>T	1.37:g.85736388G>A	ENSP00000359612:p.Arg87Trp		Somatic					p.R87W	NM_003921.4	NP_003912.1	WXS	Illumina GAIIx	Phase_I	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	2	996	-			87			CARD.		Q5VUF1	Missense_Mutation	SNP	ENST00000370580.1	37	c.259C>T	CCDS704.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771880	0.69992	.	.	ENSG00000142867	ENST00000370580;ENST00000271015;ENST00000394761	T	0.23348	1.91	5.99	2.97	0.34412	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.85682	D	0.000000	T	0.11623	0.0283	L	0.53249	1.67	0.44825	D	0.997834	B	0.34200	0.441	B	0.30646	0.118	T	0.04413	-1.0953	10	0.87932	D	0	-9.1049	9.715	0.40270	0.0669:0.0:0.5243:0.4088	.	87	O95999	BCL10_HUMAN	W	87	ENSP00000359612:R87W	ENSP00000271015:R87W	R	-	1	2	BCL10	85508976	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	1.357000	0.34090	0.794000	0.33899	0.655000	0.94253	CGG		0.353	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921		19	33	0	0	0	1	0	19	33					A	85736388	G	A	85736388	3	1	48	1	0	0	0	0	1	0	0	0	1362	1057	37	1	450	1	BCL10	1	85736388	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	404838	85736388	163514233	150	4618										
ODF2L	57489	broad.mit.edu	37	chr1	86826116	86826116	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgcagtagtcacctgagttTtatacatttcaataagggtt	8	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:86826116T>G	ENST00000359242.3	-	12	1528	c.1247A>C	c.(1246-1248)aAa>aCa	p.K416T	ODF2L_ENST00000317336.7_Missense_Mutation_p.K416T|ODF2L_ENST00000370567.1_Missense_Mutation_p.K387T|ODF2L_ENST00000294678.2_Missense_Mutation_p.K387T|ODF2L_ENST00000394731.1_Missense_Mutation_p.K256T|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000370566.3_Missense_Mutation_p.K387T	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	416						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CACCTGAGTTTTATACATTTC	0.294																																						ENST00000359242.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24						c.(1246-1248)aAa>aCa		outer dense fiber of sperm tails 2-like							77	82	81					1																	86826116		2202	4294	6496	SO:0001583	missense	57489					centrosome		g.chr1:86826116T>G		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1247A>C	1.37:g.86826116T>G	ENSP00000359600:p.Lys416Thr		Somatic				ODF2L_ENST00000370567.1_Missense_Mutation_p.K387T|ODF2L_ENST00000370566.3_Missense_Mutation_p.K387T|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000317336.7_Missense_Mutation_p.K416T|ODF2L_ENST00000394731.1_Missense_Mutation_p.K256T|ODF2L_ENST00000294678.2_Missense_Mutation_p.K387T	p.K416T	NM_001007022.2	NP_001007023.2	WXS	Illumina GAIIx	Phase_I	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	12	1528	-			416					A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	37	c.1247A>C	CCDS41354.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.78|15.78	2.933120|2.933120	0.52866|0.52866	.|.	.|.	ENSG00000122417|ENSG00000122417	ENST00000459999|ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000294678;ENST00000479890	.|T;T;T;T;T;T;T;T	.|0.78364	.|1.48;1.3;-1.17;1.36;1.46;1.48;-1.17;1.01	5.95|5.95	4.83|4.83	0.62350|0.62350	.|.	0.295434|0.295434	0.42172|0.42172	N|D	0.000747|0.000747	T|T	0.74966|0.74966	0.3786|0.3786	L|L	0.59436|0.59436	1.845|1.845	0.28480|0.28480	N|N	0.915017|0.915017	.|D;D;D;D;D;D	.|0.76494	.|0.977;0.991;0.999;0.993;0.996;0.996	.|P;P;D;P;P;P	.|0.64687	.|0.787;0.79;0.928;0.888;0.842;0.842	T|T	0.69483|0.69483	-0.5133|-0.5133	7|10	0.46703|0.39692	T|T	0.11|0.17	-14.6986|-14.6986	8.9471|8.9471	0.35764|0.35764	0.0:0.0855:0.0:0.9145|0.0:0.0855:0.0:0.9145	.|.	.|387;387;416;387;387;416	.|B4E037;B4DZ83;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.|.;.;.;.;.;ODF2L_HUMAN	Q|T	236|387;387;416;263;416;387;256;387;217	.|ENSP00000359597:K387T;ENSP00000359600:K416T;ENSP00000433092:K263T;ENSP00000320165:K416T;ENSP00000359598:K387T;ENSP00000378219:K256T;ENSP00000294678:K387T;ENSP00000432834:K217T	ENSP00000436849:K236Q|ENSP00000294678:K387T	K|K	-|-	1|2	0|0	ODF2L|ODF2L	86598704|86598704	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.275000|0.275000	0.26752|0.26752	2.511000|2.511000	0.45476|0.45476	1.092000|1.092000	0.41356|0.41356	0.402000|0.402000	0.26972|0.26972	AAA|AAA		0.294	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			9	22	0	0	0	1	0	9	22					G	86826116	T	G	86826116	3	3	48	1	0	0	0	0	1	0	0	0	10837	1841	64	4	867	4	ODF2L	1	86826116	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1089728	86826116	162424505	151	4619										
CLCA1	1179	broad.mit.edu	37	chr1	86951095	86951095	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcaaaatcaaaaatgcaatCtccgaagcacatgggaagtg	9	8	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:86951095C>A	ENST00000234701.3	+	7	1156	c.805C>A	c.(805-807)Ctc>Atc	p.L269I	CLCA1_ENST00000394711.1_Missense_Mutation_p.L269I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	269					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)		AAAATGCAATCTCCGAAGCAC	0.378																																						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.(805-807)Ctc>Atc		chloride channel accessory 1							134	113	120					1																	86951095		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86951095C>A		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.805C>A	1.37:g.86951095C>A	ENSP00000234701:p.Leu269Ile		Somatic				CLCA1_ENST00000394711.1_Missense_Mutation_p.L269I	p.L269I			WXS	Illumina GAIIx	Phase_I	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	7	1156	+		Lung NSC(277;0.239)	269					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.805C>A	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843538	0.32606	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.02944	4.1;4.1	5.93	5.01	0.66863	.	0.583336	0.16793	N	0.199293	T	0.01730	0.0055	M	0.69823	2.125	0.25951	N	0.982757	B;B	0.26845	0.161;0.097	B;B	0.32677	0.104;0.15	T	0.45702	-0.9243	10	0.23891	T	0.37	-5.8966	7.7474	0.28877	0.0:0.7298:0.0:0.2702	.	269;32	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	I	269	ENSP00000234701:L269I;ENSP00000378200:L269I	ENSP00000234701:L269I	L	+	1	0	CLCA1	86723683	0.993000	0.37304	1.000000	0.80357	0.965000	0.64279	3.200000	0.51051	1.493000	0.48517	0.655000	0.94253	CTC		0.378	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		30	51	1	0	5.45727e-16	1	7.22369e-16	30	51					A	86951095	C	A	86951095	3	1	48	1	0	0	0	0	1	0	0	0	3459	913	32	2	827	2	CLCA1	1	86951095	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	124979	86951095	162299526	152	4620										
CLCA4	22802	broad.mit.edu	37	chr1	87031554	87031554	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacaaaacataaagtgcaatTttagaagtacatgggaggtg	10	4	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:87031554T>A	ENST00000370563.3	+	6	847	c.805T>A	c.(805-807)Ttt>Att	p.F269I	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	269					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)		AAAGTGCAATTTTAGAAGTAC	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.(805-807)Ttt>Att		chloride channel accessory 4							105	97	100					1																	87031554		1832	4094	5926	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87031554T>A	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.805T>A	1.37:g.87031554T>A	ENSP00000359594:p.Phe269Ile		Somatic				CLCA4_ENST00000263723.5_5'UTR	p.F269I	NM_012128.3	NP_036260.2	WXS	Illumina GAIIx	Phase_I	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	6	847	+		Lung NSC(277;0.238)	269					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.805T>A	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.499663	0.26861	.	.	ENSG00000016602	ENST00000370563	T	0.02837	4.14	6.11	-0.0171	0.13969	.	1.759420	0.02435	N	0.083996	T	0.00936	0.0031	L	0.34521	1.04	0.09310	N	0.999996	B	0.23058	0.079	B	0.25987	0.065	T	0.48328	-0.9045	10	0.24483	T	0.36	19.3228	6.766	0.23566	0.0:0.2456:0.1152:0.6391	.	269	Q14CN2	CLCA4_HUMAN	I	269	ENSP00000359594:F269I	ENSP00000359594:F269I	F	+	1	0	CLCA4	86804142	0.000000	0.05858	0.000000	0.03702	0.779000	0.44077	0.422000	0.21296	0.176000	0.19873	0.533000	0.62120	TTT		0.343	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		25	34	0	0	0	1	0	25	34					A	87031554	T	A	87031554	3	1	48	1	0	0	0	0	1	0	0	0	3461	1841	64	4	827	4	CLCA4	1	87031554	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	80459	87031554	162219067	153	4621										
CLCA4	22802	broad.mit.edu	37	chr1	87036850	87036850	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgcaagttcttgtattgatGaagtgaaacaaagtggggcc	12	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:87036850G>T	ENST00000370563.3	+	8	1315	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	RP4-651E10.4_ENST00000456587.1_RNA|CLCA4_ENST00000263723.5_Nonsense_Mutation_p.E138*|CLCA4_ENST00000496322.1_3'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	425	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)		TTGTATTGATGAAGTGAAACA	0.433																																						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.(1273-1275)Gaa>Taa		chloride channel accessory 4							268	255	259					1																	87036850		1940	4148	6088	SO:0001587	stop_gained	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87036850G>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1273G>T	1.37:g.87036850G>T	ENSP00000359594:p.Glu425*		Somatic				CLCA4_ENST00000263723.5_Nonsense_Mutation_p.E138*|CLCA4_ENST00000496322.1_3'UTR	p.E425*	NM_012128.3	NP_036260.2	WXS	Illumina GAIIx	Phase_I	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	8	1315	+		Lung NSC(277;0.238)	425			VWFA.		A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Nonsense_Mutation	SNP	ENST00000370563.3	37	c.1273G>T	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	G	38	7.029304	0.98013	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	.	.	.	6.17	1.94	0.25998	.	0.527792	0.19919	N	0.103123	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-7.9643	7.192	0.25831	0.2204:0.12:0.6596:0.0	.	.	.	.	X	425;138	.	ENSP00000263723:E138X	E	+	1	0	CLCA4	86809438	0.000000	0.05858	0.002000	0.10522	0.160000	0.22226	0.157000	0.16402	0.416000	0.25844	0.655000	0.94253	GAA		0.433	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		38	83	1	0	3.33393e-15	1	4.38315e-15	38	83					T	87036850	G	T	87036850	4	4	48	1	0	0	0	0	0	1	0	0	3461	1291	45	2	1303	2	CLCA4	1	87036850	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5296	87036850	162213771	154	4622										
RBMXL1	494115	broad.mit.edu	37	chr1	89449102	89449102	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagaactcatgttaaaattCatggaatatccaccatcatc	5	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89449102C>A	ENST00000321792.5	-	2	835	c.408G>T	c.(406-408)atG>atT	p.M136I	CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.M136I	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	136					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TGTTAAAATTCATGGAATATC	0.517																																						ENST00000399794.2																			0											c.(406-408)atG>atT		RNA binding motif protein, X-linked-like 1							131	140	137					1																	89449102		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89449102C>A	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.408G>T	1.37:g.89449102C>A	ENSP00000318415:p.Met136Ile		Somatic				RBMXL1_ENST00000321792.5_Missense_Mutation_p.M136I|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron	p.M136I	NM_001162536.2	NP_001156008.1	WXS	Illumina GAIIx	Phase_I	Q96E39	RBMXL_HUMAN			3	1123	-			136						Missense_Mutation	SNP	ENST00000321792.5	37	c.408G>T	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892770	0.33442	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.74526	-0.85;-0.85	1.76	0.777	0.18538	.	0.309910	0.29760	U	0.011274	T	0.31702	0.0805	L	0.29908	0.895	0.20821	N	0.999847	B	0.06786	0.001	B	0.04013	0.001	T	0.22906	-1.0203	10	0.19590	T	0.45	0.4712	4.1564	0.10263	0.0:0.7647:0.0:0.2353	.	136	Q96E39	RBMXL_HUMAN	I	136	ENSP00000318415:M136I;ENSP00000446099:M136I	ENSP00000318415:M136I	M	-	3	0	RBMXL1	89221690	0.000000	0.05858	0.960000	0.40013	0.810000	0.45777	-0.695000	0.05109	0.080000	0.16959	0.306000	0.20318	ATG		0.517	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		45	85	1	0	1.41504e-22	1	1.969e-22	45	85					A	89449102	C	A	89449102	3	1	48	1	0	0	0	0	1	0	0	0	13168	826	29	2	768	2	RBMXL1	1	89449102	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2412252	89449102	159801519	155	4623										
GBP3	2635	broad.mit.edu	37	chr1	89476677	89476677	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagccccctggtttcgaataAattcccgccttcacttcttc	5	15	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89476677A>C	ENST00000370481.4	-	8	1492	c.1272T>G	c.(1270-1272)atT>atG	p.I424M		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	0					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GTTTCGAATAAATTCCCGCCT	0.413																																						ENST00000370481.4																			0				breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26						c.(1270-1272)atT>atG		guanylate binding protein 3							158	136	144					1																	89476677		2191	3979	6170	SO:0001583	missense	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89476677A>C	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.1272T>G	1.37:g.89476677A>C	ENSP00000359512:p.Ile424Met		Somatic					p.I424M	NM_018284.2	NP_060754.2	WXS	Illumina GAIIx	Phase_I	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	8	1492	-		Lung NSC(277;0.123)	424					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	c.1272T>G	CCDS717.2	.	.	.	.	.	.	.	.	.	.	A	9.744	1.165663	0.21538	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	T	0.02067	4.47	3.79	1.52	0.23074	Guanylate-binding protein, C-terminal (3);	1.106510	0.06709	N	0.772853	T	0.01421	0.0046	L	0.55743	1.74	0.09310	N	1	B;P	0.35493	0.45;0.505	B;B	0.41036	0.235;0.346	T	0.48364	-0.9042	10	0.54805	T	0.06	.	6.3342	0.21287	0.7739:0.0:0.226:0.0	.	290;424	F6X827;Q9H0R5	.;GBP3_HUMAN	M	392;424;424	ENSP00000359512:I424M	ENSP00000235878:I424M	I	-	3	3	GBP3	89249265	0.055000	0.20627	0.077000	0.20336	0.022000	0.10575	0.161000	0.16481	0.642000	0.30620	0.491000	0.48974	ATT		0.413	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		86	128	0	0	0	1	0	86	128					C	89476677	A	C	89476677	3	2	48	1	0	0	0	0	1	0	0	0	6283	10	1	4	531	4	GBP3	1	89476677	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	27575	89476677	159773944	156	4624										
GBP1	2633	broad.mit.edu	37	chr1	89523768	89523768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgctacttgttgcacaaattCggggtccagctcttcatctt	8	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89523768C>T	ENST00000370473.4	-	6	1000	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	261	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)			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)		TGCACAAATTCGGGGTCCAGC	0.458																																						ENST00000370473.4																			0				endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30						c.(781-783)Gaa>Aaa		guanylate binding protein 1, interferon-inducible							152	162	158					1																	89523768		2203	4300	6503	SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89523768C>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.781G>A	1.37:g.89523768C>T	ENSP00000359504:p.Glu261Lys		Somatic					p.E261K	NM_002053.2	NP_002044.2	WXS	Illumina GAIIx	Phase_I	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	6	1000	-		Lung NSC(277;0.123)	261					D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	c.781G>A	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094294	0.36952	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.76448	-1.02	4.48	4.48	0.54585	Guanylate-binding protein, N-terminal (1);	0.447028	0.23327	N	0.049395	T	0.52419	0.1733	L	0.53249	1.67	0.29785	N	0.833671	B	0.27656	0.184	B	0.22880	0.042	T	0.39333	-0.9619	10	0.22109	T	0.4	.	8.4944	0.33119	0.0:0.8921:0.0:0.1079	.	261	P32455	GBP1_HUMAN	K	261;224	ENSP00000359504:E261K	ENSP00000359504:E261K	E	-	1	0	GBP1	89296356	0.114000	0.22134	0.047000	0.18901	0.146000	0.21551	1.775000	0.38584	2.029000	0.59856	0.313000	0.20887	GAA		0.458	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		58	127	0	0	0	1	0	58	127					T	89523768	C	T	89523768	3	4	48	1	0	0	0	0	1	0	0	0	6281	893	31	1	1021	1	GBP1	1	89523768	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	47091	89523768	159726853	157	4625										
GBP2	2634	broad.mit.edu	37	chr1	89585912	89585912	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttcccatgctattgtacacGaaggtgctgctcaggaggat	12	9	1	0	rs148121752		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89585912G>A	ENST00000370466.3	-	4	646	c.378C>T	c.(376-378)ttC>ttT	p.F126F	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	126	GB1/RHD3-type G.|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)			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)		TATTGTACACGAAGGTGCTGC	0.458																																						ENST00000370466.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20						c.(376-378)ttC>ttT		guanylate binding protein 2, interferon-inducible		G		1,4405	2.1+/-5.4	0,1,2202	225	201	209		378	-1.6	0.5	1	dbSNP_134	209	0,8600		0,0,4300	no	coding-synonymous	GBP2	NM_004120.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		126/592	89585912	1,13005	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.chr1:89585912G>A	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.378C>T	1.37:g.89585912G>A			Somatic					p.F126F	NM_004120.3	NP_004111.2	WXS	Illumina GAIIx	Phase_I	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	4	646	-		Lung NSC(277;0.0908)	126					Q6GPH0|Q6IAU2|Q86TB0	Silent	SNP	ENST00000370466.3	37	c.378C>T	CCDS719.1																																																																																				0.458	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		29	69	0	0	0	1	0	29	69					A	89585912	G	A	89585912	2	1	48	1	0	0	0	0	0	0	0	1	6282	1049	37	1		1	GBP2	1	89585912	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	62144	89585912	159664709	158	4626										
GBP2	2634	broad.mit.edu	37	chr1	89587645	89587645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccggcaagttgatctctggaGccatgtccagggtgttgttc	13	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89587645G>A	ENST00000370466.3	-	2	273	c.5C>T	c.(4-6)gCt>gTt	p.A2V	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	2	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)			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)		GATCTCTGGAGCCATGTCCAG	0.443																																						ENST00000370466.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20						c.(4-6)gCt>gTt		guanylate binding protein 2, interferon-inducible							102	100	101					1																	89587645		2203	4300	6503	SO:0001583	missense	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89587645G>A	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.5C>T	1.37:g.89587645G>A	ENSP00000359497:p.Ala2Val		Somatic					p.A2V	NM_004120.3	NP_004111.2	WXS	Illumina GAIIx	Phase_I	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	2	273	-		Lung NSC(277;0.0908)	2					Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	c.5C>T	CCDS719.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.213855	0.58452	.	.	ENSG00000162645	ENST00000370466	T	0.69306	-0.39	3.52	3.52	0.40303	.	0.240515	0.24752	U	0.035888	T	0.75110	0.3805	M	0.92459	3.31	0.21105	N	0.99978	D	0.58268	0.982	P	0.62184	0.899	T	0.67677	-0.5609	10	0.87932	D	0	-21.4892	6.9144	0.24352	0.1272:0.0:0.8727:0.0	.	2	P32456	GBP2_HUMAN	V	2	ENSP00000359497:A2V	ENSP00000359497:A2V	A	-	2	0	GBP2	89360233	0.995000	0.38212	0.514000	0.27761	0.016000	0.09150	2.933000	0.48948	1.941000	0.56285	0.561000	0.74099	GCT		0.443	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		32	65	0	0	0	1	0	32	65					A	89587645	G	A	89587645	3	1	48	1	0	0	0	0	1	0	0	0	6282	971	34	3	1810	3	GBP2	1	89587645	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1733	89587645	159662976	159	4627										
LRRC8B	23507	broad.mit.edu	37	chr1	90048689	90048689	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccatccttcacaagtgcttCgattctccatggaccacccg	7	16	2	0	rs190907617		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:90048689C>T	ENST00000330947.2	+	5	840	c.480C>T	c.(478-480)ttC>ttT	p.F160F	LRRC8B_ENST00000358200.4_Silent_p.F160F|LRRC8B_ENST00000439853.1_Silent_p.F160F|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	160					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F160F(1)		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)		ACAAGTGCTTCGATTCTCCAT	0.527													C|||	1	0.000199681	0	0	5008	,	,		19574	0.001		0	False		,,,				2504	0					ENST00000330947.2																			1	Substitution - coding silent(1)	p.F160F(1)	skin(1)	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.(478-480)ttC>ttT		leucine rich repeat containing 8 family, member B							84	89	87					1																	90048689		2203	4300	6503	SO:0001819	synonymous_variant	23507					integral to membrane		g.chr1:90048689C>T	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.480C>T	1.37:g.90048689C>T			Somatic				LRRC8B_ENST00000358200.4_Silent_p.F160F|LRRC8B_ENST00000439853.1_Silent_p.F160F	p.F160F	NM_001134476.1	NP_001127948.1	WXS	Illumina GAIIx	Phase_I	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	5	840	+		all_lung(203;0.17)	160					D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	ENST00000330947.2	37	c.480C>T	CCDS724.1																																																																																				0.527	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		44	76	0	0	0	1	0	44	76					T	90048689	C	T	90048689	2	4	48	1	0	0	0	0	0	0	0	1	9031	883	31	1		1	LRRC8B	1	90048689	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	461044	90048689	159201932	160	4628										
ZNF644	84146	broad.mit.edu	37	chr1	91383672	91383672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttagcattttcttcttgcttCcagatcttgaccttgatttc	5	10	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:91383672C>T	ENST00000370440.1	-	5	3945	c.3728G>A	c.(3727-3729)gGa>gAa	p.G1243E	ZNF644_ENST00000361321.5_Missense_Mutation_p.G21E|ZNF644_ENST00000467231.1_5'UTR|ZNF644_ENST00000337393.5_Missense_Mutation_p.G1243E|ZNF644_ENST00000347275.5_Missense_Mutation_p.G21E			Q9H582	ZN644_HUMAN	zinc finger protein 644	1243					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.G1243A(1)		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)		CTTCTTGCTTCCAGATCTTGA	0.358																																						ENST00000370440.1																			1	Substitution - Missense(1)	p.G1243A(1)	lung(1)	breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3727-3729)gGa>gAa		zinc finger protein 644							252	221	231					1																	91383672		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91383672C>T	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3728G>A	1.37:g.91383672C>T	ENSP00000359469:p.Gly1243Glu		Somatic				ZNF644_ENST00000347275.5_Missense_Mutation_p.G21E|ZNF644_ENST00000361321.5_Missense_Mutation_p.G21E|ZNF644_ENST00000337393.5_Missense_Mutation_p.G1243E|ZNF644_ENST00000467231.1_5'UTR	p.G1243E			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)	5	3945	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	1243					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.3728G>A	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317517	0.81469	.	.	ENSG00000122482	ENST00000370440;ENST00000347275;ENST00000337393;ENST00000361321	T;T	0.01159	5.25;5.25	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.02304	0.0071	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.974	T	0.69416	-0.5151	10	0.87932	D	0	-16.5823	19.9785	0.97317	0.0:1.0:0.0:0.0	.	1243;21	Q9H582;Q9H582-3	ZN644_HUMAN;.	E	1243;21;1243;21	ENSP00000359469:G1243E;ENSP00000337008:G1243E	ENSP00000337008:G1243E	G	-	2	0	ZNF644	91156260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.011000	0.76359	2.724000	0.93272	0.650000	0.86243	GGA		0.358	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		16	16	0	0	0	1	0	16	16					T	91383672	C	T	91383672	3	4	48	1	0	0	0	0	1	0	0	0	18075	855	30	3	263	3	ZNF644	1	91383672	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1334983	91383672	157866949	161	4629										
ZNF644	84146	broad.mit.edu	37	chr1	91404618	91404618	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaatttaatgaactagcttCttcttttttgaaatgcacag	6	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:91404618C>A	ENST00000370440.1	-	3	2510	c.2293G>T	c.(2293-2295)Gaa>Taa	p.E765*	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.E765*|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	765					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)		GAACTAGCTTCTTCTTTTTTG	0.343																																						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.(2293-2295)Gaa>Taa		zinc finger protein 644							84	90	88					1																	91404618		2203	4300	6503	SO:0001587	stop_gained	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91404618C>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.2293G>T	1.37:g.91404618C>A	ENSP00000359469:p.Glu765*		Somatic				ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.E765*|ZNF644_ENST00000467231.1_Intron	p.E765*			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	2510	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	765					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Nonsense_Mutation	SNP	ENST00000370440.1	37	c.2293G>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	38	7.137870	0.98088	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	.	.	.	5.74	4.82	0.62117	.	0.357463	0.27961	N	0.017149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-10.8137	15.0487	0.71846	0.0:0.9311:0.0:0.0689	.	.	.	.	X	765;765;337	.	ENSP00000337008:E765X	E	-	1	0	ZNF644	91177206	0.702000	0.27816	0.708000	0.30435	0.998000	0.95712	1.861000	0.39438	1.392000	0.46585	0.655000	0.94253	GAA		0.343	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		24	41	1	0	1.36565e-18	1	1.85171e-18	24	41					A	91404618	C	A	91404618	4	1	48	1	0	0	0	0	0	1	0	0	18075	922	32	2	1706	2	ZNF644	1	91404618	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	20946	91404618	157846003	162	4630										
HFM1	164045	broad.mit.edu	37	chr1	91845729	91845729	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcttgttatagctagttcaAacactacagtttttccagaa	5	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:91845729A>G	ENST00000370425.3	-	8	1036	c.938T>C	c.(937-939)tTt>tCt	p.F313S	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)	313	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)			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)		AGCTAGTTCAAACACTACAGT	0.284																																						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.(937-939)tTt>tCt		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							83	84	84					1																	91845729		2203	4292	6495	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91845729A>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.938T>C	1.37:g.91845729A>G	ENSP00000359454:p.Phe313Ser		Somatic				HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	p.F313S	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)	8	1036	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	313			Helicase ATP-binding.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.938T>C	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	29.5	5.012145	0.93346	.	.	ENSG00000162669	ENST00000370425;ENST00000541820	T	0.19938	2.11	5.6	5.6	0.85130	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.43110	U	0.000619	T	0.28732	0.0712	L	0.53780	1.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.03651	-1.1016	10	0.18276	T	0.48	.	15.7793	0.78246	1.0:0.0:0.0:0.0	.	313;313	B7ZM16;A2PYH4	.;HFM1_HUMAN	S	313;346	ENSP00000359454:F313S	ENSP00000359454:F313S	F	-	2	0	HFM1	91618317	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	8.730000	0.91510	2.129000	0.65627	0.455000	0.32223	TTT		0.284	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		20	34	0	0	0	1	0	20	34					G	91845729	A	G	91845729	3	3	48	1	0	0	0	0	1	0	0	0	7092	14	1	4	3497	4	HFM1	1	91845729	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	441111	91845729	157404892	163	4631										
CDC7	8317	broad.mit.edu	37	chr1	91967372	91967372	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctttaaaaaaaaacgagcaGaattttaaacttgcaggtac	6	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:91967372G>T	ENST00000428239.1	+	2	358	c.99G>T	c.(97-99)caG>caT	p.Q33H	CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Missense_Mutation_p.Q33H|CDC7_ENST00000430031.2_Missense_Mutation_p.Q33H	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	33					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)		AAAACGAGCAGAATTTTAAAC	0.393																																						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.(97-99)caG>caT		cell division cycle 7							72	78	76					1																	91967372		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.chr1:91967372G>T	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1", "CDC7 cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 homolog (S. cerevisiae)"	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.99G>T	1.37:g.91967372G>T	ENSP00000393139:p.Gln33His		Somatic				CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Missense_Mutation_p.Q33H|CDC7_ENST00000430031.2_Missense_Mutation_p.Q33H	p.Q33H	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)	2	358	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	33					D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	c.99G>T	CCDS734.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828017	0.71143	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239;ENST00000426137	T;T;T;T	0.51325	0.71;0.82;0.82;1.87	5.42	4.5	0.54988	.	0.296081	0.32970	N	0.005426	T	0.44973	0.1319	L	0.29908	0.895	0.35811	D	0.823852	D;D	0.76494	0.996;0.999	D;D	0.75484	0.986;0.962	T	0.51687	-0.8674	10	0.48119	T	0.1	-0.9853	14.0338	0.64632	0.0:0.1508:0.8492:0.0	.	33;33	B7Z5H7;O00311	.;CDC7_HUMAN	H	33	ENSP00000407477:Q33H;ENSP00000234626:Q33H;ENSP00000393139:Q33H;ENSP00000398077:Q33H	ENSP00000234626:Q33H	Q	+	3	2	CDC7	91739960	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	2.897000	0.48664	1.400000	0.46741	0.591000	0.81541	CAG		0.393	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		4	69	1	0	0.150653	1	0.151842	4	69					T	91967372	G	T	91967372	3	4	48	1	0	0	0	0	1	0	0	0	3086	933	33	2	101	2	CDC7	1	91967372	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	121643	91967372	157283249	164	4632										
BRDT	676	broad.mit.edu	37	chr1	92467660	92467660	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgcatccatctggtgataGtgacacaacgatgttagaat	10	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:92467660G>T	ENST00000362005.3	+	17	2760	c.2342G>T	c.(2341-2343)aGt>aTt	p.S781I	BRDT_ENST00000394530.3_Missense_Mutation_p.S735I|BRDT_ENST00000399546.2_Missense_Mutation_p.S781I|BRDT_ENST00000402388.1_Missense_Mutation_p.S781I|BRDT_ENST00000370389.2_Missense_Mutation_p.S708I	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	781					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TCTGGTGATAGTGACACAACG	0.338																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(2122-2124)aGt>aTt		bromodomain, testis-specific							121	111	114					1																	92467660		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92467660G>T	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2342G>T	1.37:g.92467660G>T	ENSP00000354568:p.Ser781Ile		Somatic				BRDT_ENST00000402388.1_Missense_Mutation_p.S781I|BRDT_ENST00000394530.3_Missense_Mutation_p.S735I|BRDT_ENST00000399546.2_Missense_Mutation_p.S781I|BRDT_ENST00000362005.3_Missense_Mutation_p.S781I	p.S708I	NM_001242810.1	NP_001229739.1	WXS	Illumina GAIIx	Phase_I	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	16	3047	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	781					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.2123G>T	CCDS735.1	.	.	.	.	.	.	.	.	.	.	g	6.628	0.484374	0.12641	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	3.71	-1.63	0.08345	.	1.146050	0.06387	N	0.716268	T	0.09730	0.0239	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.26395	-1.0104	10	0.34782	T	0.22	-1.3712	2.383	0.04358	0.4074:0.0:0.2279:0.3647	.	735;735;785;781	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	I	781;708;781;735;781	ENSP00000354568:S781I;ENSP00000359416:S708I;ENSP00000387822:S781I;ENSP00000378038:S735I;ENSP00000384051:S781I	ENSP00000354568:S781I	S	+	2	0	BRDT	92240248	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.971000	0.03806	-0.306000	0.08818	-0.285000	0.09966	AGT		0.338	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		6	26	1	0	0.00307968	1	0.00320271	6	26					T	92467660	G	T	92467660	3	4	48	1	0	0	0	0	1	0	0	0	1510	1029	36	5	2400	5	BRDT	1	92467660	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	500288	92467660	156782961	165	4633										
GLMN	11146	broad.mit.edu	37	chr1	92756986	92756986	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttaacttacctttaccaataAatcaaagatcaaaaaataaa	1	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:92756986A>C	ENST00000370360.3	-	4	355	c.274T>G	c.(274-276)Tta>Gta	p.L92V	GLMN_ENST00000534881.1_Missense_Mutation_p.L92V	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	92					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)		TTTACCAATAAATCAAAGATC	0.308									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.(274-276)Tta>Gta		glomulin, FKBP associated protein							61	62	62					1																	92756986		2203	4299	6502	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.chr1:92756986A>C	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.274T>G	1.37:g.92756986A>C	ENSP00000359385:p.Leu92Val		Somatic				GLMN_ENST00000534881.1_Missense_Mutation_p.L92V	p.L92V	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)	4	355	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	92					Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.274T>G	CCDS738.1	.	.	.	.	.	.	.	.	.	.	A	1.963	-0.438429	0.04636	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.43294	0.95;0.95	5.86	0.954	0.19595	.	0.118012	0.56097	D	0.000024	T	0.09291	0.0229	L	0.41236	1.265	0.25745	N	0.985114	P;B	0.36027	0.533;0.001	B;B	0.36666	0.23;0.005	T	0.20940	-1.0260	10	0.16420	T	0.52	-3.4694	0.1489	0.00091	0.3034:0.1548:0.2428:0.299	.	92;92	B4DJ85;Q92990	.;GLMN_HUMAN	V	92	ENSP00000359385:L92V;ENSP00000440156:L92V	ENSP00000359385:L92V	L	-	1	2	GLMN	92529574	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	1.367000	0.34204	0.122000	0.18314	-0.403000	0.06358	TTA		0.308	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		22	8	0	0	0	1	0	22	8					C	92756986	A	C	92756986	3	2	48	1	0	0	0	0	1	0	0	0	6456	11	1	4	1574	4	GLMN	1	92756986	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	289326	92756986	156493635	166	4634										
MTF2	22823	broad.mit.edu	37	chr1	93581174	93581174	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctattgtggaggccctggaGagtaagtaaatacagttatg	13	5	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:93581174G>A	ENST00000370298.4	+	6	920	c.631G>A	c.(631-633)Gac>Aac	p.D211N	MTF2_ENST00000370303.4_Splice_Site_p.D211N|MTF2_ENST00000545708.1_Splice_Site_p.D109N|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Splice_Site_p.D109N	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	211					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		AGGCCCTGGAGAGTAAGTAAA	0.383																																						ENST00000370298.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e6+1		metal response element binding transcription factor 2							89	81	84					1																	93581174		2203	4300	6503	SO:0001630	splice_region_variant	22823					nucleus	DNA binding|zinc ion binding	g.chr1:93581174G>A	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"Tudor domain containing", "Zinc fingers, PHD-type"	29535	protein-coding gene	gene with protein product	"polycomb-like 2", "tudor domain containing 19A"	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.632+1G>A	1.37:g.93581174G>A			Somatic				MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Splice_Site_p.D109_splice|MTF2_ENST00000540243.1_Splice_Site_p.D109_splice|MTF2_ENST00000370303.4_Splice_Site_p.D211_splice	p.D211_splice	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	WXS	Illumina GAIIx	Phase_I	Q9Y483	MTF2_HUMAN		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	6	920	+		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)	211					A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Splice_Site	SNP	ENST00000370298.4	37	c.632_splice	CCDS742.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312696	0.95655	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000537953;ENST00000370303	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.18	5.18	0.71444	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	T	0.25044	0.0608	L	0.41906	1.305	0.80722	D	1	P;B	0.50943	0.94;0.196	P;B	0.52267	0.694;0.266	T	0.00923	-1.1513	10	0.44086	T	0.13	-7.134	18.6979	0.91610	0.0:0.0:1.0:0.0	.	211;211	B1AKT6;Q9Y483	.;MTF2_HUMAN	N	109;109;211;109;211	ENSP00000444962:D109N;ENSP00000443295:D109N;ENSP00000359321:D211N;ENSP00000359326:D211N	ENSP00000359321:D211N	D	+	1	0	MTF2	93353762	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.410000	0.81850	0.655000	0.94253	GAC		0.383	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358	Missense_Mutation	4	51	0	0	0	1	0	4	51					A	93581174	G	A	93581174	5	1	48	1	0	0	0	0	0	0	1	0	9932	956	33	3	653	3	MTF2	1	93581174	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	824188	93581174	155669447	167	4635										
BCAR3	8412	broad.mit.edu	37	chr1	94027904	94027904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgattgacttgtgcacctTtgctgccccatagcaatcgc	8	13	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:94027904T>C	ENST00000370244.1	-	14	2660	c.2372A>G	c.(2371-2373)aAa>aGa	p.K791R	BCAR3_ENST00000370247.3_Missense_Mutation_p.K700R|BCAR3_ENST00000370243.1_Missense_Mutation_p.K791R|BCAR3_ENST00000260502.6_Missense_Mutation_p.K791R|BCAR3_ENST00000539242.1_Missense_Mutation_p.K467R	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	791	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)		TTGTGCACCTTTGCTGCCCCA	0.388																																						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.(2371-2373)aAa>aGa		breast cancer anti-estrogen resistance 3							154	146	149					1																	94027904		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94027904T>C	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.2372A>G	1.37:g.94027904T>C	ENSP00000359264:p.Lys791Arg		Somatic				BCAR3_ENST00000260502.6_Missense_Mutation_p.K791R|BCAR3_ENST00000370247.3_Missense_Mutation_p.K700R|BCAR3_ENST00000539242.1_Missense_Mutation_p.K467R|BCAR3_ENST00000370243.1_Missense_Mutation_p.K791R	p.K791R	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)	14	2660	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	791			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.2372A>G	CCDS745.1	.	.	.	.	.	.	.	.	.	.	T	5.790	0.330040	0.10956	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.45	5.45	0.79879	Guanine-nucleotide dissociation stimulator CDC25 (2);	0.142193	0.64402	D	0.000013	T	0.10078	0.0247	N	0.11756	0.17	0.47276	D	0.999377	B;B	0.10296	0.0;0.003	B;B	0.06405	0.001;0.002	T	0.11324	-1.0592	10	0.05351	T	0.99	-29.904	15.5104	0.75776	0.0:0.0:0.0:1.0	.	791;700	O75815;Q5TEW3	BCAR3_HUMAN;.	R	700;791;791;791;467	ENSP00000359267:K700R;ENSP00000260502:K791R;ENSP00000359264:K791R;ENSP00000359263:K791R;ENSP00000441343:K467R	ENSP00000260502:K791R	K	-	2	0	BCAR3	93800492	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.657000	0.67996	2.069000	0.61940	0.459000	0.35465	AAA		0.388	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			33	49	0	0	0	1	0	33	49					C	94027904	T	C	94027904	3	2	48	1	0	0	0	0	1	0	0	0	1349	1841	64	4	109	4	BCAR3	1	94027904	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	446730	94027904	155222717	168	4636										
BCAR3	8412	broad.mit.edu	37	chr1	94032978	94032978	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttcaaaagtcacagcctgGcgctccattaacgtcacaag	7	14	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:94032978G>A	ENST00000370244.1	-	13	2445	c.2157C>T	c.(2155-2157)cgC>cgT	p.R719R	BCAR3_ENST00000370247.3_Silent_p.R628R|BCAR3_ENST00000370243.1_Silent_p.R719R|BCAR3_ENST00000260502.6_Silent_p.R719R|BCAR3_ENST00000539242.1_Silent_p.R395R	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	719	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)		TCACAGCCTGGCGCTCCATTA	0.483																																						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.(2155-2157)cgC>cgT		breast cancer anti-estrogen resistance 3							136	124	128					1																	94032978		2203	4300	6503	SO:0001819	synonymous_variant	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94032978G>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.2157C>T	1.37:g.94032978G>A			Somatic				BCAR3_ENST00000260502.6_Silent_p.R719R|BCAR3_ENST00000370247.3_Silent_p.R628R|BCAR3_ENST00000539242.1_Silent_p.R395R|BCAR3_ENST00000370243.1_Silent_p.R719R	p.R719R	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	2445	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	719			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	37	c.2157C>T	CCDS745.1																																																																																				0.483	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			8	53	0	0	0	1	0	8	53					A	94032978	G	A	94032978	2	1	48	1	0	0	0	0	0	0	0	1	1349	1190	42	3		3	BCAR3	1	94032978	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5074	94032978	155217643	169	4637										
DNTTIP2	30836	broad.mit.edu	37	chr1	94342350	94342350	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcacttgcttttatggggcTctttttgttgttattccatc	8	8	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:94342350T>G	ENST00000436063.2	-	2	1198	c.1141A>C	c.(1141-1143)Agc>Cgc	p.S381R	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	381					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTTATGGGGCTCTTTTTGTTG	0.393																																						ENST00000436063.2																			0				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38						c.(1141-1143)Agc>Cgc		deoxynucleotidyltransferase, terminal, interacting protein 2							257	239	244					1																	94342350		1871	4105	5976	SO:0001583	missense	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94342350T>G	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"acidic 82 kDa protein mRNA"	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1141A>C	1.37:g.94342350T>G	ENSP00000411010:p.Ser381Arg		Somatic				DNTTIP2_ENST00000460191.1_5'UTR	p.S381R	NM_014597.4	NP_055412.2	WXS	Illumina GAIIx	Phase_I	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	2	1198	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	381					Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	c.1141A>C	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	T	2.546	-0.305172	0.05495	.	.	ENSG00000067334	ENST00000436063	T	0.17370	2.28	5.01	0.8	0.18672	.	0.774714	0.11943	N	0.514460	T	0.05593	0.0147	L	0.57536	1.79	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.36529	-0.9744	10	0.62326	D	0.03	.	3.5205	0.07740	0.0:0.316:0.2332:0.4508	.	381	Q5QJE6	TDIF2_HUMAN	R	381	ENSP00000411010:S381R	ENSP00000352137:S381R	S	-	1	0	DNTTIP2	94114938	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.365000	0.20348	0.251000	0.21505	0.460000	0.39030	AGC		0.393	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		41	105	0	0	0	1	0	41	105					G	94342350	T	G	94342350	3	3	48	1	0	0	0	0	1	0	0	0	4684	1551	54	4	1153	4	DNTTIP2	1	94342350	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	309372	94342350	154908271	170	4638										
ABCA4	24	broad.mit.edu	37	chr1	94528743	94528743	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acttcacgtggggtggtagaGagctggtccagggatacatg	16	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:94528743G>T	ENST00000370225.3	-	12	1771	c.1685C>A	c.(1684-1686)tCt>tAt	p.S562Y	ABCA4_ENST00000535735.1_Missense_Mutation_p.S562Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	562					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)		GGGTGGTAGAGAGCTGGTCCA	0.493																																						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.(1684-1686)tCt>tAt		ATP-binding cassette, sub-family A (ABC1), member 4							193	177	182					1																	94528743		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.chr1:94528743G>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.1685C>A	1.37:g.94528743G>T	ENSP00000359245:p.Ser562Tyr		Somatic				ABCA4_ENST00000535735.1_Missense_Mutation_p.S562Y	p.S562Y	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)	12	1771	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	562					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.1685C>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201540	0.38905	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.98567	-5.0;-5.0	5.04	1.96	0.26148	.	0.722205	0.13656	N	0.371954	D	0.95313	0.8479	L	0.51914	1.62	0.09310	N	1	D;B	0.54601	0.967;0.035	P;B	0.52066	0.689;0.065	D	0.90636	0.4571	10	0.45353	T	0.12	.	4.7717	0.13158	0.0757:0.1089:0.4319:0.3835	.	562;562	F5H6E5;P78363	.;ABCA4_HUMAN	Y	562	ENSP00000359245:S562Y;ENSP00000437682:S562Y	ENSP00000359245:S562Y	S	-	2	0	ABCA4	94301331	0.001000	0.12720	0.990000	0.47175	0.882000	0.50991	-0.353000	0.07691	1.305000	0.44909	0.555000	0.69702	TCT		0.493	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		49	101	1	0	2.52991e-16	1	3.36543e-16	49	101					T	94528743	G	T	94528743	3	4	48	1	0	0	0	0	1	0	0	0	34	942	33	2	5292	2	ABCA4	1	94528743	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	186393	94528743	154721878	171	4639										
TMEM56	148534	broad.mit.edu	37	chr1	95657239	95657239	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atggcttcatgtattccgtgTatggaacagaaccctacata	8	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:95657239T>C	ENST00000370203.4	+	7	898	c.607T>C	c.(607-609)Tat>Cat	p.Y203H	RP11-57H12.6_ENST00000604534.1_Intron|RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.3_ENST00000419846.1_RNA	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	203	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)				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)		GTATTCCGTGTATGGAACAGA	0.393																																						ENST00000370203.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12						c.(607-609)Tat>Cat		transmembrane protein 56							247	212	224					1																	95657239		2203	4300	6503	SO:0001583	missense	148534					integral to membrane		g.chr1:95657239T>C		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.607T>C	1.37:g.95657239T>C	ENSP00000359222:p.Tyr203His		Somatic				RP11-57H12.3_ENST00000419846.1_RNA|RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.6_ENST00000604534.1_Intron	p.Y203H	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)	7	898	+		all_lung(203;0.0232)|Lung NSC(277;0.0739)	203			TLC.		B2RPI2|D3DT48	Missense_Mutation	SNP	ENST00000370203.4	37	c.607T>C	CCDS753.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935894	0.52972	.	.	ENSG00000152078	ENST00000370203	D	0.85258	-1.96	5.94	2.31	0.28768	TRAM/LAG1/CLN8 homology domain (3);	0.456909	0.25584	N	0.029667	T	0.77778	0.4181	L	0.49350	1.555	0.40698	D	0.982454	P	0.48764	0.915	P	0.57960	0.83	T	0.72257	-0.4346	9	0.30854	T	0.27	0.0517	4.8357	0.13464	0.1184:0.0639:0.1242:0.6935	.	203	Q96MV1	TMM56_HUMAN	H	203	ENSP00000359222:Y203H	ENSP00000359222:Y203H	Y	+	1	0	TMEM56	95429827	0.892000	0.30473	0.324000	0.25361	0.693000	0.40251	3.822000	0.55708	0.134000	0.18681	0.528000	0.53228	TAT		0.393	TMEM56-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029935.1	NM_152487		45	73	0	0	0	1	0	45	73					C	95657239	T	C	95657239	3	2	48	1	0	0	0	0	1	0	0	0	16198	1638	57	4	629	4	TMEM56	1	95657239	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1128496	95657239	153593382	172	4640										
DPYD	1806	broad.mit.edu	37	chr1	98015142	98015142	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtatttgtgaatgtaccaagAagcttgctttccatcattca	7	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:98015142A>G	ENST00000370192.3	-	12	1598	c.1498T>C	c.(1498-1500)Tct>Cct	p.S500P		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	500					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)	ATGTACCAAGAAGCTTGCTTT	0.388																																						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.(1498-1500)Tct>Cct		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						176	148	158					1																	98015142		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.chr1:98015142A>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.1498T>C	1.37:g.98015142A>G	ENSP00000359211:p.Ser500Pro		Somatic					p.S500P	NM_000110.3	NP_000101.2	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)	12	1598	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	500					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.1498T>C	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.368441	0.61513	.	.	ENSG00000188641	ENST00000370192	D	0.82711	-1.64	6.16	6.16	0.99307	.	0.052912	0.85682	D	0.000000	D	0.90676	0.7075	M	0.89287	3.02	0.80722	D	1	D	0.67145	0.996	D	0.63033	0.91	D	0.92184	0.5754	10	0.72032	D	0.01	-24.9563	16.8061	0.85666	1.0:0.0:0.0:0.0	.	500	Q12882	DPYD_HUMAN	P	500	ENSP00000359211:S500P	ENSP00000359211:S500P	S	-	1	0	DPYD	97787730	1.000000	0.71417	0.993000	0.49108	0.528000	0.34623	6.965000	0.76067	2.367000	0.80283	0.528000	0.53228	TCT		0.388	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		20	28	0	0	0	1	0	20	28					G	98015142	A	G	98015142	3	3	48	1	0	0	0	0	1	0	0	0	4747	246	9	4	1627	4	DPYD	1	98015142	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2357903	98015142	151235479	173	4641										
SNX7	51375	broad.mit.edu	37	chr1	99161227	99161227	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aactatttagccagaaaataAatttgatagataaaatatct	4	4	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:99161227A>C	ENST00000306121.3	+	5	802	c.793A>C	c.(793-795)Aat>Cat	p.N265H	SNX7_ENST00000370189.5_Missense_Mutation_p.N201H|SNX7_ENST00000529992.1_Missense_Mutation_p.N210H	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	201					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		CCAGAAAATAAATTTGATAGA	0.338																																						ENST00000370189.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13						c.(601-603)Aat>Cat		sorting nexin 7							38	48	45					1																	99161227		2199	4295	6494	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99161227A>C	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"Sorting nexins"	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.793A>C	1.37:g.99161227A>C	ENSP00000304429:p.Asn265His		Somatic				SNX7_ENST00000306121.3_Missense_Mutation_p.N265H|SNX7_ENST00000529992.1_Missense_Mutation_p.N210H	p.N201H			WXS	Illumina GAIIx	Phase_I	Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	6	965	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	201					A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.601A>C	CCDS755.2	.	.	.	.	.	.	.	.	.	.	A	19.34	3.808227	0.70797	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.30448	1.93;1.53;1.53	5.65	5.65	0.86999	.	0.187599	0.56097	D	0.000030	T	0.43122	0.1233	L	0.57536	1.79	0.46113	D	0.99887	D;D;D	0.76494	0.999;0.988;0.967	D;P;P	0.71656	0.974;0.854;0.77	T	0.32348	-0.9910	10	0.51188	T	0.08	-43.7004	16.1657	0.81754	1.0:0.0:0.0:0.0	.	210;265;201	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	H	201;210;265	ENSP00000359208:N201H;ENSP00000434731:N210H;ENSP00000304429:N265H	ENSP00000304429:N265H	N	+	1	0	SNX7	98933815	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	2.862000	0.48388	2.276000	0.75962	0.528000	0.53228	AAT		0.338	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			6	54	0	0	0	1	0	6	54					C	99161227	A	C	99161227	3	2	48	1	0	0	0	0	1	0	0	0	14922	14	1	4	811	4	SNX7	1	99161227	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1146085	99161227	150089394	174	4642										
LPPR5	163404	broad.mit.edu	37	chr1	99418684	99418684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttggatggaaaggtttttCgggctctcatgatgagatct	12	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:99418684C>T	ENST00000263177.4	-	3	784	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	LPPR5_ENST00000370188.3_Missense_Mutation_p.R188Q	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		188						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										AAAGGTTTTTCGGGCTCTCAT	0.418																																						ENST00000370188.3																			0											c.(562-564)cGa>cAa									126	113	117					1																	99418684		2203	4300	6503	SO:0001583	missense	0					integral to membrane	hydrolase activity	g.chr1:99418684C>T																												ENST00000263177.4:c.563G>A	1.37:g.99418684C>T	ENSP00000263177:p.Arg188Gln		Somatic				LPPR5_ENST00000263177.4_Missense_Mutation_p.R188Q	p.R188Q	NM_001010861.2	NP_001010861.1	WXS	Illumina GAIIx	Phase_I	Q32ZL2	LPPR5_HUMAN			3	923	-			188					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.563G>A	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317109	0.81469	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.75260	-0.92;-0.92	5.16	5.16	0.70880	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87196	0.6117	M	0.88031	2.925	0.49389	D	0.999787	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89311	0.3633	10	0.87932	D	0	.	17.9943	0.89178	0.0:1.0:0.0:0.0	.	188;188	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	Q	188	ENSP00000359207:R188Q;ENSP00000263177:R188Q	ENSP00000263177:R188Q	R	-	2	0	AL161744.1	99191272	1.000000	0.71417	0.721000	0.30653	0.314000	0.28054	7.445000	0.80570	2.563000	0.86464	0.655000	0.94253	CGA		0.418	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			23	34	0	0	0	1	0	23	34					T	99418684	C	T	99418684	3	4	48	1	0	0	0	0	1	0	0	0	8937	884	31	1	418	1	LPPR5	1	99418684	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	257457	99418684	149831937	175	4643										
LPPR4	9890	broad.mit.edu	37	chr1	99771407	99771407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacagaaggcatcctcaaccGaaaccacagagatgctagct	8	12	1	2	rs201281186		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:99771407G>A	ENST00000370185.3	+	7	1630	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	LPPR4_ENST00000457765.1_Missense_Mutation_p.R320Q|LPPR4_ENST00000370184.1_Missense_Mutation_p.R220Q	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		378					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)		ATCCTCAACCGAAACCACAGA	0.458													G|||	1	0.000199681	0	0	5008	,	,		21057	0.001		0	False		,,,				2504	0					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.(1132-1134)cGa>cAa									92	90	90					1																	99771407		2203	4300	6503	SO:0001583	missense	0						phosphatidate phosphatase activity	g.chr1:99771407G>A																												ENST00000370185.3:c.1133G>A	1.37:g.99771407G>A	ENSP00000359204:p.Arg378Gln		Somatic				LPPR4_ENST00000370184.1_Missense_Mutation_p.R220Q|LPPR4_ENST00000457765.1_Missense_Mutation_p.R320Q	p.R378Q	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)	7	1630	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	378					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1133G>A	CCDS757.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.39	1.337757	0.24253	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.24538	2.42;2.35;1.85	5.71	5.71	0.89125	.	0.255371	0.34338	N	0.004059	T	0.35307	0.0927	L	0.47716	1.5	0.26066	N	0.98128	D;P	0.76494	0.999;0.676	D;B	0.77557	0.99;0.195	T	0.11036	-1.0604	9	.	.	.	-15.1208	19.8478	0.96722	0.0:0.0:1.0:0.0	.	320;378	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	Q	378;320;378;220	ENSP00000359204:R378Q;ENSP00000394913:R320Q;ENSP00000359203:R220Q	.	R	+	2	0	RP4-788L13.1	99543995	1.000000	0.71417	0.991000	0.47740	0.494000	0.33585	5.033000	0.64146	2.685000	0.91497	0.650000	0.86243	CGA		0.458	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			26	51	0	0	0	1	0	26	51					A	99771407	G	A	99771407	3	1	48	1	0	0	0	0	1	0	0	0	8936	1058	37	1	1159	1	LPPR4	1	99771407	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	352723	99771407	149479214	176	4644										
LPPR4	9890	broad.mit.edu	37	chr1	99771601	99771601	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgcctctatggattccgctCgatcaaagcagctcctcacc	7	15	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:99771601C>T	ENST00000370185.3	+	7	1824	c.1327C>T	c.(1327-1329)Cga>Tga	p.R443*	LPPR4_ENST00000457765.1_Nonsense_Mutation_p.R385*|LPPR4_ENST00000370184.1_Nonsense_Mutation_p.R285*	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		443					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)		GGATTCCGCTCGATCAAAGCA	0.498																																						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.(1327-1329)Cga>Tga									69	69	69					1																	99771601		2203	4300	6503	SO:0001587	stop_gained	0						phosphatidate phosphatase activity	g.chr1:99771601C>T																												ENST00000370185.3:c.1327C>T	1.37:g.99771601C>T	ENSP00000359204:p.Arg443*		Somatic				LPPR4_ENST00000370184.1_Nonsense_Mutation_p.R285*|LPPR4_ENST00000457765.1_Nonsense_Mutation_p.R385*	p.R443*	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)	7	1824	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	443					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Nonsense_Mutation	SNP	ENST00000370185.3	37	c.1327C>T	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	39	7.433103	0.98282	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	.	.	.	5.5	1.05	0.20165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.7948	15.6283	0.76882	0.5474:0.4526:0.0:0.0	.	.	.	.	X	443;385;443;285	.	.	R	+	1	2	RP4-788L13.1	99544189	0.050000	0.20438	0.251000	0.24312	0.597000	0.36814	0.459000	0.21908	-0.097000	0.12307	-0.175000	0.13238	CGA		0.498	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			4	86	0	0	0	1	0	4	86					T	99771601	C	T	99771601	4	4	48	1	0	0	0	0	0	1	0	0	8936	876	31	1	1353	1	LPPR4	1	99771601	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	194	99771601	149479020	177	4645										
SLC35A3	23443	broad.mit.edu	37	chr1	100480922	100480922	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatggagaactggtatcaaaGaatggattttttcagggata	12	3	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:100480922G>T	ENST00000370155.3	+	6	1091	c.699G>T	c.(697-699)aaG>aaT	p.K233N	SLC35A3_ENST00000465289.1_Intron|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000370153.1_Missense_Mutation_p.K275N|SLC35A3_ENST00000427993.2_Missense_Mutation_p.K233N	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	233					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TGGTATCAAAGAATGGATTTT	0.299																																					Ovarian(7;298 356 944 2149 6911)	ENST00000370155.3																			0				biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11						c.(697-699)aaG>aaT		solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3							92	96	95					1																	100480922		2203	4299	6502	SO:0001583	missense	23443				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity	g.chr1:100480922G>T	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"Solute carriers"	11023	protein-coding gene	gene with protein product		605632	"solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.699G>T	1.37:g.100480922G>T	ENSP00000359174:p.Lys233Asn		Somatic				SLC35A3_ENST00000465289.1_Intron|SLC35A3_ENST00000427993.2_Missense_Mutation_p.K233N|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000370153.1_Missense_Mutation_p.K275N	p.K233N	NM_012243.1	NP_036375.1	WXS	Illumina GAIIx	Phase_I	Q9Y2D2	S35A3_HUMAN		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)	6	1091	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	233					A8K3F8|D3DT54|Q68CR2|Q9BSB7	Missense_Mutation	SNP	ENST00000370155.3	37	c.699G>T	CCDS762.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649938	0.47362	.	.	ENSG00000117620	ENST00000370155;ENST00000427993;ENST00000370153	T;T;T	0.41400	1.0;1.0;1.0	5.28	4.37	0.52481	.	0.097959	0.64402	D	0.000001	T	0.15132	0.0365	N	0.21545	0.675	0.47778	D	0.999512	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.04635	-1.0937	10	0.42905	T	0.14	-22.978	11.3712	0.49699	0.151:0.0:0.849:0.0	.	274;233	Q9Y2D2-2;Q9Y2D2	.;S35A3_HUMAN	N	233;233;275	ENSP00000359174:K233N;ENSP00000414947:K233N;ENSP00000359172:K275N	ENSP00000359172:K275N	K	+	3	2	SLC35A3	100253510	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.673000	0.54591	1.368000	0.46115	0.655000	0.94253	AAG		0.299	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	NM_012243		12	25	1	0	7.03913e-09	1	8.36985e-09	12	25					T	100480922	G	T	100480922	3	4	48	1	0	0	0	0	1	0	0	0	14587	933	33	2	717	2	SLC35A3	1	100480922	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	709321	100480922	148769699	178	4646										
SASS6	163786	broad.mit.edu	37	chr1	100575956	100575956	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctaactcagacagtctgttTtgtagctggtggatgttttg	11	6	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:100575956T>C	ENST00000287482.5	-	8	893	c.753A>G	c.(751-753)caA>caG	p.Q251Q	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Silent_p.Q84Q	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	251					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ACAGTCTGTTTTGTAGCTGGT	0.353																																						ENST00000287482.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(751-753)caA>caG		spindle assembly 6 homolog (C. elegans)							156	147	150					1																	100575956		2203	4300	6503	SO:0001819	synonymous_variant	163786				centriole replication	centriole		g.chr1:100575956T>C	AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.753A>G	1.37:g.100575956T>C			Somatic				SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Silent_p.Q84Q	p.Q251Q	NM_194292.1	NP_919268.1	WXS	Illumina GAIIx	Phase_I	Q6UVJ0	SAS6_HUMAN		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)	8	893	-		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	251					D3DT55|Q8N3K0	Silent	SNP	ENST00000287482.5	37	c.753A>G	CCDS764.1																																																																																				0.353	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		4	48	0	0	0	1	0	4	48					C	100575956	T	C	100575956	2	2	48	1	0	0	0	0	0	0	0	1	13865	1838	64	4		4	SASS6	1	100575956	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	95034	100575956	148674665	179	4647										
GPR88	54112	broad.mit.edu	37	chr1	101004646	101004646	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cactcctgtattcgggcctgGccatcgggggcacgctggcc	14	15	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:101004646G>A	ENST00000315033.4	+	2	563	c.124G>A	c.(124-126)Gcc>Acc	p.A42T		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	42					G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuronal action potential (GO:0019228)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		TTCGGGCCTGGCCATCGGGGG	0.657																																						ENST00000315033.4																			0				large_intestine(2)|skin(1)	3						c.(124-126)Gcc>Acc		G protein-coupled receptor 88							40	34	36					1																	101004646		2201	4299	6500	SO:0001583	missense	54112					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:101004646G>A	AB042411	CCDS772.1	1p21.3	2012-08-21	2006-02-15		ENSG00000181656	ENSG00000181656		"GPCR / Class A : Orphans"	4539	protein-coding gene	gene with protein product		607468	"G-protein coupled receptor 88", "G protein coupled receptor 88"				Standard	NM_022049		Approved		uc001dth.3	Q9GZN0	OTTHUMG00000010981	ENST00000315033.4:c.124G>A	1.37:g.101004646G>A	ENSP00000314223:p.Ala42Thr		Somatic					p.A42T	NM_022049.2	NP_071332.2	WXS	Illumina GAIIx	Phase_I	Q9GZN0	GPR88_HUMAN		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)	2	563	+		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)	42					Q29S24|Q6VN48	Missense_Mutation	SNP	ENST00000315033.4	37	c.124G>A	CCDS772.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885868	0.72410	.	.	ENSG00000181656	ENST00000315033	T	0.37915	1.17	4.61	4.61	0.57282	.	0.146333	0.30210	U	0.010149	T	0.25121	0.0610	N	0.14661	0.345	0.33897	D	0.638044	D	0.61697	0.99	P	0.60068	0.868	T	0.04885	-1.0920	10	0.23302	T	0.38	-9.9921	15.7965	0.78416	0.0:0.0:1.0:0.0	.	42	Q9GZN0	GPR88_HUMAN	T	42	ENSP00000314223:A42T	ENSP00000314223:A42T	A	+	1	0	GPR88	100777234	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.165000	0.50778	2.388000	0.81334	0.563000	0.77884	GCC		0.657	GPR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030212.1	NM_022049		5	12	0	0	0	1	0	5	12					A	101004646	G	A	101004646	3	1	48	1	0	0	0	0	1	0	0	0	6725	1203	42	3	126	3	GPR88	1	101004646	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	428690	101004646	148245975	180	4648										
S1PR1	1901	broad.mit.edu	37	chr1	101704898	101704898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcccgcccagtggtttctgCgggaagggagtatgtttgtg	15	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:101704898C>T	ENST00000305352.6	+	2	733	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	RP4-575N6.4_ENST00000432195.1_RNA|S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	120	Sphingosine 1-phosphate binding.				actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GTGGTTTCTGCGGGAAGGGAG	0.552											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305352.6																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(358-360)Cgg>Tgg		sphingosine-1-phosphate receptor 1							68	67	67					1																	101704898		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101704898C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.358C>T	1.37:g.101704898C>T	ENSP00000305416:p.Arg120Trp		Somatic	OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	S1PR1_ENST00000475821.1_3'UTR	p.R120W	NM_001400.4	NP_001391.2	WXS	Illumina GAIIx	Phase_I	P21453	S1PR1_HUMAN			2	733	+			120					D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.358C>T	CCDS777.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086761	0.55861	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.36878	1.23	5.74	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72350	-0.4320	10	0.87932	D	0	.	13.0608	0.59005	0.4405:0.5595:0.0:0.0	.	120	P21453	S1PR1_HUMAN	W	120	ENSP00000305416:R120W	ENSP00000305416:R120W	R	+	1	2	S1PR1	101477486	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	3.567000	0.53813	1.403000	0.46800	0.555000	0.69702	CGG		0.552	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		32	53	0	0	0	1	0	32	53					T	101704898	C	T	101704898	3	4	48	1	0	0	0	0	1	0	0	0	13808	759	27	1	360	1	S1PR1	1	101704898	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	700252	101704898	147545723	181	4649										
S1PR1	1901	broad.mit.edu	37	chr1	101705191	101705191	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actctgcttctgctctccatCgtcattctgtactgcagaat	6	13	5	1	rs139640364	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:101705191C>T	ENST00000305352.6	+	2	1026	c.651C>T	c.(649-651)atC>atT	p.I217I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	217					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TGCTCTCCATCGTCATTCTGT	0.567													C|||	2	0.000399361	0	0.0014	5008	,	,		21658	0		0	False		,,,				2504	0.001					ENST00000305352.6																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(649-651)atC>atT		sphingosine-1-phosphate receptor 1		C		4,4402	9.9+/-24.2	0,4,2199	131	124	126		651	2.3	1	1	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	S1PR1	NM_001400.4		0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384		217/383	101705191	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101705191C>T	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.651C>T	1.37:g.101705191C>T			Somatic					p.I217I	NM_001400.4	NP_001391.2	WXS	Illumina GAIIx	Phase_I	P21453	S1PR1_HUMAN			2	1026	+			217					D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	ENST00000305352.6	37	c.651C>T	CCDS777.1																																																																																				0.567	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		45	84	0	0	0	1	0	45	84					T	101705191	C	T	101705191	2	4	48	1	0	0	0	0	0	0	0	1	13808	874	31	1		1	S1PR1	1	101705191	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	293	101705191	147545430	182	4650										
COL11A1	1301	broad.mit.edu	37	chr1	103548435	103548435	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagcagtatctgagcctttaGaattctttctgtttgtgcaa	8	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:103548435G>T	ENST00000370096.3	-	2	512	c.200C>A	c.(199-201)tCt>tAt	p.S67Y	COL11A1_ENST00000358392.2_Missense_Mutation_p.S67Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.S67Y|COL11A1_ENST00000512756.1_Missense_Mutation_p.S67Y	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	67					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)		TGAGCCTTTAGAATTCTTTCT	0.358																																						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.(199-201)tCt>tAt		collagen, type XI, alpha 1							139	139	139					1																	103548435		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.chr1:103548435G>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.200C>A	1.37:g.103548435G>T	ENSP00000359114:p.Ser67Tyr		Somatic				COL11A1_ENST00000370096.3_Missense_Mutation_p.S67Y|COL11A1_ENST00000512756.1_Missense_Mutation_p.S67Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.S67Y	p.S67Y	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)	2	517	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	67			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.200C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947221	0.73672	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.89552	-2.5;-2.49;-2.51;-2.53;-2.21	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.292710	0.34555	N	0.003863	D	0.93543	0.7939	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.60575	0.963;0.988;0.988;0.979	P;P;P;P	0.58331	0.692;0.837;0.837;0.692	D	0.93831	0.7128	10	0.87932	D	0	.	19.8365	0.96659	0.0:0.0:1.0:0.0	.	67;67;67;67	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	Y	67	ENSP00000359114:S67Y;ENSP00000351163:S67Y;ENSP00000302551:S67Y;ENSP00000426533:S67Y;ENSP00000408640:S67Y	ENSP00000302551:S67Y	S	-	2	0	COL11A1	103321023	1.000000	0.71417	0.990000	0.47175	0.957000	0.61999	9.869000	0.99810	2.694000	0.91930	0.467000	0.42956	TCT		0.358	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		20	50	1	0	1.22574e-08	1	1.45102e-08	20	50					T	103548435	G	T	103548435	3	4	48	1	0	0	0	0	1	0	0	0	3669	942	33	2	5641	2	COL11A1	1	103548435	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1843244	103548435	145702186	183	4651										
PRPF38B	55119	broad.mit.edu	37	chr1	109238722	109238722	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattttgcctgttatacaaaTtatttaccctgaagttaact	4	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109238722T>G	ENST00000370025.4	+	3	672	c.403T>G	c.(403-405)Tta>Gta	p.L135V	PRPF38B_ENST00000370022.5_Missense_Mutation_p.L135V|PRPF38B_ENST00000370021.1_Missense_Mutation_p.L24V|PRPF38B_ENST00000467302.1_3'UTR	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	135					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GTTATACAAATTATTTACCCT	0.363																																						ENST00000370021.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(70-72)Tta>Gta		pre-mRNA processing factor 38B							114	113	114					1																	109238722		2203	4300	6503	SO:0001583	missense	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109238722T>G	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.403T>G	1.37:g.109238722T>G	ENSP00000359042:p.Leu135Val		Somatic				PRPF38B_ENST00000370025.4_Missense_Mutation_p.L135V|PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Missense_Mutation_p.L135V	p.L24V			WXS	Illumina GAIIx	Phase_I	Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	4	707	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	135					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	c.70T>G	CCDS788.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.321268	0.81580	.	.	ENSG00000134186	ENST00000370025;ENST00000370022;ENST00000370021	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.78496	0.4292	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83720	0.0192	9	0.87932	D	0	.	9.9425	0.41589	0.0:0.0763:0.0:0.9237	.	135	Q5VTL8	PR38B_HUMAN	V	135;135;24	.	ENSP00000359038:L24V	L	+	1	2	PRPF38B	109040245	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.366000	0.52343	2.069000	0.61940	0.482000	0.46254	TTA		0.363	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		4	47	0	0	0	1	0	4	47					G	109238722	T	G	109238722	3	3	48	1	0	0	0	0	1	0	0	0	12580	1490	52	4	413	4	PRPF38B	1	109238722	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	5690287	109238722	140011899	184	4652										
PRPF38B	55119	broad.mit.edu	37	chr1	109242061	109242061	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggatagaagggacagggatCgagaaagagagaaagaaaat	16	2	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109242061C>T	ENST00000370025.4	+	6	1329	c.1060C>T	c.(1060-1062)Cga>Tga	p.R354*	PRPF38B_ENST00000370021.1_Nonsense_Mutation_p.R243*	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	354	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		ggacagggatcgagaaagaga	0.468																																						ENST00000370021.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(727-729)Cga>Tga		pre-mRNA processing factor 38B							44	41	42					1																	109242061		2203	4300	6503	SO:0001587	stop_gained	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109242061C>T	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.1060C>T	1.37:g.109242061C>T	ENSP00000359042:p.Arg354*		Somatic				PRPF38B_ENST00000370025.4_Nonsense_Mutation_p.R354*	p.R243*			WXS	Illumina GAIIx	Phase_I	Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	7	1364	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	354					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Nonsense_Mutation	SNP	ENST00000370025.4	37	c.727C>T	CCDS788.1	.	.	.	.	.	.	.	.	.	.	C	39	7.587187	0.98374	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	.	.	.	5.69	2.67	0.31697	.	0.056106	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2991	0.37833	0.4474:0.3236:0.2289:0.0	.	.	.	.	X	354;243	.	ENSP00000359038:R243X	R	+	1	2	PRPF38B	109043584	0.991000	0.36638	0.998000	0.56505	0.943000	0.58893	1.842000	0.39250	0.285000	0.22329	-0.293000	0.09583	CGA		0.468	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		6	48	0	0	0	1	0	6	48					T	109242061	C	T	109242061	4	4	48	1	0	0	0	0	0	1	0	0	12580	876	31	1	1082	1	PRPF38B	1	109242061	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3339	109242061	140008560	185	4653										
AKNAD1	254268	broad.mit.edu	37	chr1	109394800	109394800	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtgagttctggggtttgttCttttggccaagaattcttat	11	5	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109394800C>A	ENST00000370001.3	-	2	755	c.487G>T	c.(487-489)Gaa>Taa	p.E163*	AKNAD1_ENST00000369994.1_Nonsense_Mutation_p.E163*|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Nonsense_Mutation_p.E163*	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	163						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GGGGTTTGTTCTTTTGGCCAA	0.408																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(487-489)Gaa>Taa		AKNA domain containing 1							56	59	58					1																	109394800		2203	4299	6502	SO:0001587	stop_gained	254268							g.chr1:109394800C>A	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.487G>T	1.37:g.109394800C>A	ENSP00000359018:p.Glu163*		Somatic				AKNAD1_ENST00000369995.3_Nonsense_Mutation_p.E163*|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Nonsense_Mutation_p.E163*	p.E163*	NM_152763.4	NP_689976.2	WXS	Illumina GAIIx	Phase_I	Q5T1N1	AKND1_HUMAN			2	755	-			163					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Nonsense_Mutation	SNP	ENST00000370001.3	37	c.487G>T	CCDS791.2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701884	0.88924	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	.	.	.	5.92	1.71	0.24356	.	0.231073	0.36628	N	0.002498	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-17.2337	6.5198	0.22269	0.0:0.5646:0.2282:0.2072	.	.	.	.	X	163	.	ENSP00000359011:E163X	E	-	1	0	AKNAD1	109196323	0.331000	0.24713	0.421000	0.26609	0.099000	0.18886	0.643000	0.24750	0.845000	0.35118	0.655000	0.94253	GAA		0.408	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		23	43	1	0	1.55469e-16	1	2.07108e-16	23	43					A	109394800	C	A	109394800	4	1	48	1	0	0	0	0	0	1	0	0	464	922	32	2	2083	2	AKNAD1	1	109394800	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	152739	109394800	139855821	186	4654										
WDR47	22911	broad.mit.edu	37	chr1	109556458	109556458	+	Intron	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaccttcaggaataaaaatCttacatgctggggctcatct	7	9	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109556458C>A	ENST00000369962.3	-	4	550				WDR47_ENST00000357672.3_Intron|WDR47_ENST00000369965.4_Intron|WDR47_ENST00000400794.3_Missense_Mutation_p.R111I|WDR47_ENST00000361054.3_Intron			O94967	WDR47_HUMAN	WD repeat domain 47						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)		GAATAAAAATCTTACATGCTG	0.368																																						ENST00000400794.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(331-333)aGa>aTa		WD repeat domain 47							92	97	95					1																	109556458		2203	4296	6499	SO:0001627	intron_variant	22911							g.chr1:109556458C>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.327+4G>T	1.37:g.109556458C>A			Somatic				WDR47_ENST00000357672.3_Intron|WDR47_ENST00000369962.3_Intron|WDR47_ENST00000369965.4_Intron|WDR47_ENST00000361054.3_Intron	p.R111I			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)	4	465	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	109					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.332G>T	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133367	0.77662	.	.	ENSG00000085433	ENST00000400794	T	0.57436	0.4	5.48	5.48	0.80851	.	.	.	.	.	T	0.23846	0.0577	N	0.08118	0	0.80722	D	1	B	0.34015	0.435	B	0.29440	0.102	T	0.30563	-0.9974	9	0.87932	D	0	.	19.7098	0.96094	0.0:1.0:0.0:0.0	.	111	A8MX09	.	I	111	ENSP00000383599:R111I	ENSP00000383599:R111I	R	-	2	0	WDR47	109357981	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.416000	0.80143	2.713000	0.92767	0.655000	0.94253	AGA		0.368	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		19	33	1	0	8.34094e-07	1	9.42356e-07	19	33					A	109556458	C	A	109556458	1	1	48	0	1	0	0	0	0	0	0	0	17315	913	32	2		2	WDR47	1	109556458	Intron	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	161658	109556458	139694163	187	4655										
CELSR2	1952	broad.mit.edu	37	chr1	109815829	109815829	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggccccctggccaggagacTttgggaccacagcaaaagag	13	12	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109815829T>G	ENST00000271332.3	+	32	8441	c.8380T>G	c.(8380-8382)Ttt>Gtt	p.F2794V	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2794					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)		GCCAGGAGACTTTGGGACCAC	0.652																																					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.(8380-8382)Ttt>Gtt		cadherin, EGF LAG seven-pass G-type receptor 2							43	55	51					1																	109815829		2203	4299	6502	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.chr1:109815829T>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.8380T>G	1.37:g.109815829T>G	ENSP00000271332:p.Phe2794Val		Somatic				CELSR2_ENST00000498157.1_3'UTR	p.F2794V	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)	32	8441	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2794					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.8380T>G	CCDS796.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.478062	0.26511	.	.	ENSG00000143126	ENST00000271332	T	0.65364	-0.15	4.52	4.52	0.55395	.	.	.	.	.	T	0.37705	0.1013	N	0.22421	0.69	0.38959	D	0.958515	P	0.48350	0.909	P	0.48704	0.587	T	0.20706	-1.0267	9	0.15952	T	0.53	.	11.6446	0.51253	0.0:0.0:0.0:1.0	.	2794	Q9HCU4	CELR2_HUMAN	V	2794	ENSP00000271332:F2794V	ENSP00000271332:F2794V	F	+	1	0	CELSR2	109617352	0.643000	0.27269	1.000000	0.80357	0.985000	0.73830	1.963000	0.40452	1.801000	0.52704	0.459000	0.35465	TTT		0.652	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		4	70	0	0	0	1	0	4	70					G	109815829	T	G	109815829	3	3	48	1	0	0	0	0	1	0	0	0	3224	1609	56	4	8506	4	CELSR2	1	109815829	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	259371	109815829	139434792	188	4656										
GNAT2	2780	broad.mit.edu	37	chr1	110155430	110155430	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagcatcctcctgcagcttCttttctagctccttggacct	6	15	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:110155430C>A	ENST00000351050.3	-	1	249	c.63G>T	c.(61-63)aaG>aaT	p.K21N		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	21					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)		CCTGCAGCTTCTTTTCTAGCT	0.527																																						ENST00000351050.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(61-63)aaG>aaT		guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2							215	189	198					1																	110155430		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.chr1:110155430C>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.63G>T	1.37:g.110155430C>A	ENSP00000251337:p.Lys21Asn		Somatic					p.K21N	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)	1	249	-		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	21						Missense_Mutation	SNP	ENST00000351050.3	37	c.63G>T	CCDS803.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265098	0.80358	.	.	ENSG00000134183	ENST00000351050	D	0.89196	-2.48	5.28	4.37	0.52481	.	0.113146	0.64402	D	0.000013	D	0.89114	0.6623	M	0.75447	2.3	0.58432	D	0.999998	P	0.52842	0.956	P	0.54100	0.742	D	0.88240	0.2909	10	0.36615	T	0.2	.	13.4491	0.61161	0.0:0.9242:0.0:0.0758	.	21	P19087	GNAT2_HUMAN	N	21	ENSP00000251337:K21N	ENSP00000251337:K21N	K	-	3	2	GNAT2	109956953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.993000	0.49425	1.452000	0.47756	0.655000	0.94253	AAG		0.527	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032181.1	NM_005272		42	70	1	0	1.67305e-13	1	2.14637e-13	42	70					A	110155430	C	A	110155430	3	1	48	1	0	0	0	0	1	0	0	0	6520	912	32	2	1033	2	GNAT2	1	110155430	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	339601	110155430	139095191	189	4657										
AMPD2	271	broad.mit.edu	37	chr1	110163640	110163640	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggttgcctagacaacatgaGaaatcgtggccagggcctct	12	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:110163640G>T	ENST00000256578.3	+	1	365	c.5G>T	c.(4-6)aGa>aTa	p.R2I	AMPD2_ENST00000528454.1_5'Flank|AMPD2_ENST00000342115.4_Intron|AMPD2_ENST00000526301.1_Intron|AMPD2_ENST00000528667.1_Missense_Mutation_p.R2I|AMPD2_ENST00000358729.4_5'Flank	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	2					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)		GACAACATGAGAAATCGTGGC	0.647																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(4-6)aGa>aTa		adenosine monophosphate deaminase 2							21	21	21					1																	110163640		1963	3962	5925	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.chr1:110163640G>T	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.5G>T	1.37:g.110163640G>T	ENSP00000256578:p.Arg2Ile		Somatic				AMPD2_ENST00000528667.1_Missense_Mutation_p.R2I|AMPD2_ENST00000526301.1_Intron|AMPD2_ENST00000342115.4_Intron	p.R2I	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)	1	365	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	2					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.5G>T	CCDS805.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141393	0.57044	.	.	ENSG00000116337	ENST00000528667;ENST00000256578	T;T	0.38722	1.12;1.12	4.83	3.91	0.45181	.	.	.	.	.	T	0.12987	0.0315	N	0.14661	0.345	0.54753	D	0.999981	B	0.15141	0.012	B	0.08055	0.003	T	0.08330	-1.0727	9	0.87932	D	0	-0.1353	8.0518	0.30583	0.1092:0.0:0.8908:0.0	.	2	Q01433	AMPD2_HUMAN	I	2	ENSP00000436541:R2I;ENSP00000256578:R2I	ENSP00000256578:R2I	R	+	2	0	AMPD2	109965163	0.827000	0.29292	0.840000	0.33206	0.729000	0.41735	2.191000	0.42640	2.237000	0.73441	0.313000	0.20887	AGA		0.647	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			10	14	1	0	0.00010058	1	0.000108553	10	14					T	110163640	G	T	110163640	3	4	48	1	0	0	0	0	1	0	0	0	586	942	33	2	21	2	AMPD2	1	110163640	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	8210	110163640	139086981	190	4658										
SLC16A4	9122	broad.mit.edu	37	chr1	110921888	110921888	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcctttatctttaataccaGaattgttctcacttttgata	4	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:110921888G>A	ENST00000369779.4	-	6	866	c.617C>T	c.(616-618)tCt>tTt	p.S206F	SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000472422.2_Missense_Mutation_p.S158F|SLC16A4_ENST00000541986.1_Missense_Mutation_p.S144F|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000437429.2_Missense_Mutation_p.S96F	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	206					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)	TTTAATACCAGAATTGTTCTC	0.423																																						ENST00000369779.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16						c.(616-618)tCt>tTt		solute carrier family 16, member 4	Pyruvic acid(DB00119)						127	116	120					1																	110921888		2203	4300	6503	SO:0001583	missense	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110921888G>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.617C>T	1.37:g.110921888G>A	ENSP00000358794:p.Ser206Phe		Somatic				SLC16A4_ENST00000437429.2_Missense_Mutation_p.S96F|SLC16A4_ENST00000472422.2_Missense_Mutation_p.S158F|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000541986.1_Missense_Mutation_p.S144F|SLC16A4_ENST00000497687.1_5'UTR	p.S206F	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	866	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	206					A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	c.617C>T	CCDS823.1	.	.	.	.	.	.	.	.	.	.	g	15.20	2.763535	0.49574	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000437429;ENST00000541986	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	5.51	2.59	0.31030	Major facilitator superfamily domain, general substrate transporter (1);	2.864540	0.05690	U	0.591991	T	0.32971	0.0847	L	0.47016	1.485	0.09310	N	0.999998	B;B;B;B	0.20368	0.044;0.011;0.02;0.014	B;B;B;B	0.24701	0.055;0.026;0.02;0.038	T	0.39840	-0.9594	10	0.41790	T	0.15	.	9.3456	0.38107	0.2934:0.0:0.7066:0.0	.	96;144;158;206	E7EPY8;B4DJ67;G3V175;O15374	.;.;.;MOT5_HUMAN	F	206;158;96;144	ENSP00000358794:S206F;ENSP00000432495:S158F;ENSP00000394790:S96F;ENSP00000446087:S144F	ENSP00000358794:S206F	S	-	2	0	SLC16A4	110723411	0.052000	0.20516	0.346000	0.25655	0.812000	0.45895	1.606000	0.36826	0.808000	0.34231	0.651000	0.88453	TCT		0.423	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		11	33	0	0	0	1	0	11	33					A	110921888	G	A	110921888	3	1	48	1	0	0	0	0	1	0	0	0	14425	942	33	3	862	3	SLC16A4	1	110921888	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	758248	110921888	138328733	191	4659										
KCNA10	3744	broad.mit.edu	37	chr1	111060320	111060320	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgccttcagtgtttgcccgaGgatctgcagccccttggagt	12	13	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111060320G>T	ENST00000369771.2	-	1	1477	c.1090C>A	c.(1090-1092)Ctc>Atc	p.L364I		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	364					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	GTTTGCCCGAGGATCTGCAGC	0.557																																						ENST00000369771.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(1090-1092)Ctc>Atc		potassium voltage-gated channel, shaker-related subfamily, member 10							102	98	99					1																	111060320		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060320G>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1090C>A	1.37:g.111060320G>T	ENSP00000358786:p.Leu364Ile		Somatic					p.L364I	NM_005549.2	NP_005540.1	WXS	Illumina GAIIx	Phase_I	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1477	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	364						Missense_Mutation	SNP	ENST00000369771.2	37	c.1090C>A	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464843	0.43839	.	.	ENSG00000143105	ENST00000369771	D	0.99070	-5.39	5.63	3.77	0.43336	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99061	0.9678	M	0.85462	2.755	0.43499	D	0.995745	D	0.64830	0.994	D	0.83275	0.996	D	0.99758	1.1020	10	0.87932	D	0	.	11.1171	0.48266	0.1511:0.0:0.8489:0.0	.	364	Q16322	KCA10_HUMAN	I	364	ENSP00000358786:L364I	ENSP00000358786:L364I	L	-	1	0	KCNA10	110861843	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	1.823000	0.39062	0.759000	0.33084	0.558000	0.71614	CTC		0.557	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		53	91	1	0	2.0833e-19	1	2.83573e-19	53	91					T	111060320	G	T	111060320	3	4	48	1	0	0	0	0	1	0	0	0	8011	1000	35	5	449	5	KCNA10	1	111060320	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	138432	111060320	138190301	192	4660										
KCNA3	3738	broad.mit.edu	37	chr1	111216263	111216263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccgcatggacgccttcagcGtttgcccgaggatctgcagc	12	15	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111216263G>A	ENST00000369769.2	-	1	1392	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	390				T -> S (in Ref. 5; AAA36425). {ECO:0000305}.	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)	CGCCTTCAGCGTTTGCCCGAG	0.587																																						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.(1168-1170)aCg>aTg		potassium voltage-gated channel, shaker-related subfamily, member 3							84	84	84					1																	111216263		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216263G>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.1169C>T	1.37:g.111216263G>A	ENSP00000358784:p.Thr390Met		Somatic					p.T390M	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	1392	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	390	T -> S (in Ref. 5; AAA36425).				Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.1169C>T	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939224	0.73557	.	.	ENSG00000177272	ENST00000369769	D	0.98437	-4.93	5.71	5.71	0.89125	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.99495	0.9820	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98256	1.0496	10	0.87932	D	0	.	19.8489	0.96731	0.0:0.0:1.0:0.0	.	390	P22001	KCNA3_HUMAN	M	390	ENSP00000358784:T390M	ENSP00000358784:T390M	T	-	2	0	KCNA3	111017786	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.864000	0.99589	2.689000	0.91719	0.655000	0.94253	ACG		0.587	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		50	81	0	0	0	1	0	50	81					A	111216263	G	A	111216263	3	1	48	1	0	0	0	0	1	0	0	0	8013	1145	40	1	562	1	KCNA3	1	111216263	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	155943	111216263	138034358	193	4661										
KCNA3	3738	broad.mit.edu	37	chr1	111216610	111216610	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgctgttgccggctgcttcGaatgagtcctgcgacgtcga	14	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111216610G>A	ENST00000369769.2	-	1	1045	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	274					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)	CGGCTGCTTCGAATGAGTCCT	0.612																																						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.(820-822)ttC>ttT		potassium voltage-gated channel, shaker-related subfamily, member 3							47	50	49					1																	111216610		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216610G>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.822C>T	1.37:g.111216610G>A			Somatic					p.F274F	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	1045	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	274					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.822C>T	CCDS828.2																																																																																				0.612	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		4	91	0	0	0	1	0	4	91					A	111216610	G	A	111216610	2	1	48	1	0	0	0	0	0	0	0	1	8013	1049	37	1		1	KCNA3	1	111216610	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	347	111216610	138034011	194	4662										
KCNA3	3738	broad.mit.edu	37	chr1	111216954	111216954	+	Missense_Mutation	SNP	G	G	T													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccggactgatagtagtagaGgatggcgtcgaagctgggcc							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111216954G>T	ENST00000369769.2	-	1	701	c.478C>A	c.(478-480)Ctc>Atc	p.L160I		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	160					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)	TAGTAGTAGAGGATGGCGTCG	0.647																																						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.(478-480)Ctc>Atc		potassium voltage-gated channel, shaker-related subfamily, member 3							57	67	64					1																	111216954		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216954G>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.478C>A	1.37:g.111216954G>T	ENSP00000358784:p.Leu160Ile		Somatic					p.L160I	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	701	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	160					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.478C>A	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	19.96	3.922927	0.73213	.	.	ENSG00000177272	ENST00000369769	D	0.86769	-2.17	4.67	3.74	0.42951	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000001	D	0.93265	0.7854	M	0.91249	3.19	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.94508	0.7716	10	0.87932	D	0	.	13.8764	0.63655	0.0:0.0:0.8462:0.1538	.	160	P22001	KCNA3_HUMAN	I	160	ENSP00000358784:L160I	ENSP00000358784:L160I	L	-	1	0	KCNA3	111018477	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.877000	0.87225	0.941000	0.37499	0.462000	0.41574	CTC		0.647	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		53	102	1	0	1.11015e-26	1	1.57159e-26	53	102					T	111216954	G	T	111216954	3	4	48	1	0	0	0	0	1	0	0	0	8013	1000	35	5	1253	5	KCNA3	1	111216954	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	344	111216954	138033667	195	4663	15	2								
KCNA3	3738	broad.mit.edu	37	chr1	111216964	111216964	+	Silent	SNP	G	G	A													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagtagtagaggatggcgtcGaagctgggccggttgcggtc							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111216964G>A	ENST00000369769.2	-	1	691	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	156					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)	GGATGGCGTCGAAGCTGGGCC	0.642																																						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.(466-468)ttC>ttT		potassium voltage-gated channel, shaker-related subfamily, member 3							57	67	64					1																	111216964		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216964G>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.468C>T	1.37:g.111216964G>A			Somatic					p.F156F	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	691	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	156					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.468C>T	CCDS828.2																																																																																				0.642	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		53	107	0	0	0	1	0	53	107					A	111216964	G	A	111216964	2	1	48	1	0	0	0	0	0	0	0	1	8013	1049	37	1		1	KCNA3	1	111216964	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	10	111216964	138033657	196	4664	15	2								
C1orf103	55791	broad.mit.edu	37	chr1	111492551	111492551	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accaaactgctaaaggaatcGaaaccttctccagaggtcaa	7	11	2	1	rs143008579		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111492551G>A	ENST00000369763.4	-	3	2181	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	LRIF1_ENST00000485275.2_Silent_p.F61F|LRIF1_ENST00000494675.1_Silent_p.F61F|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	597					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.F597F(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TAAAGGAATCGAAACCTTCTC	0.383																																						ENST00000369763.4																			1	Substitution - coding silent(1)	p.F597F(1)	skin(1)	endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1789-1791)ttC>ttT		ligand dependent nuclear receptor interacting factor 1		G	,	1,4405	2.1+/-5.4	0,1,2202	159	158	158		183,1791	3.3	0.6	1	dbSNP_134	158	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LRIF1	NM_001006945.1,NM_018372.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	61/234,597/770	111492551	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111492551G>A	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1791C>T	1.37:g.111492551G>A			Somatic				LRIF1_ENST00000485275.2_Silent_p.F61F|LRIF1_ENST00000494675.1_Silent_p.F61F|RP11-96K19.2_ENST00000440689.1_RNA	p.F597F	NM_018372.3	NP_060842.3	WXS	Illumina GAIIx	Phase_I	Q5T3J3	LRIF1_HUMAN			3	2181	-			597					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	ENST00000369763.4	37	c.1791C>T	CCDS30800.1																																																																																				0.383	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		23	66	0	0	0	1	0	23	66					A	111492551	G	A	111492551	2	1	48	1	0	0	0	0	0	0	0	1	1979	1049	37	1		1	C1orf103	1	111492551	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	275587	111492551	137758070	197	4665										
C1orf103	55791	broad.mit.edu	37	chr1	111493955	111493955	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cactgttgtgaagtaacagtTgttgcatcaacagaggaact	10	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111493955T>C	ENST00000369763.4	-	2	1941	c.1551A>G	c.(1549-1551)acA>acG	p.T517T	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						AAGTAACAGTTGTTGCATCAA	0.388																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1549-1551)acA>acG		ligand dependent nuclear receptor interacting factor 1							138	136	136					1																	111493955		2203	4300	6503	SO:0001819	synonymous_variant	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111493955T>C	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1551A>G	1.37:g.111493955T>C			Somatic				LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	p.T517T	NM_018372.3	NP_060842.3	WXS	Illumina GAIIx	Phase_I	Q5T3J3	LRIF1_HUMAN			2	1941	-			517					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Silent	SNP	ENST00000369763.4	37	c.1551A>G	CCDS30800.1																																																																																				0.388	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		29	79	0	0	0	1	0	29	79					C	111493955	T	C	111493955	2	2	48	1	0	0	0	0	0	0	0	1	1979	1799	63	4		4	C1orf103	1	111493955	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1404	111493955	137756666	198	4666										
C1orf103	55791	broad.mit.edu	37	chr1	111494605	111494606	+	Frame_Shift_Ins	INS	-	-	A													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaggaacaagagatggcgtINSaaaaggctgtagattatctt							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111494605_111494606insA	ENST00000369763.4	-	2	1290_1291	c.900_901insT	c.(898-903)tttacgfs	p.T301fs	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						AGAGATGGCGTAAAAGGCTGTA	0.337																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(898-903)ttcgccfs		ligand dependent nuclear receptor interacting factor 1																																				SO:0001589	frameshift_variant	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494605_111494606insA	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.901dupT	1.37:g.111494609_111494609dupA	ENSP00000358778:p.Thr301fs		Somatic				LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA	p.A301fs	NM_018372.3	NP_060842.3	WXS	Illumina GAIIx	Phase_I	Q5T3J3	LRIF1_HUMAN			2	1290_1291	-			301					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Frame_Shift_Ins	INS	ENST00000369763.4	37	c.900_901insT	CCDS30800.1																																																																																				0.337	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		15	55						15	55	---	---	---	---	A	111494606	-	A	111494605	7	5	48	1	0	1	1	0	0	0	0	0	1979	1638	57	0	1420	0	C1orf103	1	111494605	Frame_Shift_Ins	INS	-	TCGA-ND-A4WC-01A-21D-A28R-08	650	111494605	137756016	199	4667										
KCND3	3752	broad.mit.edu	37	chr1	112329633	112329633	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggctaaagttggaaacaatcAcagggactggcagggcaatg	14	7	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:112329633A>C	ENST00000315987.2	-	3	1681	c.1202T>G	c.(1201-1203)gTg>gGg	p.V401G	KCND3_ENST00000302127.4_Missense_Mutation_p.V401G|KCND3_ENST00000369697.1_Missense_Mutation_p.V401G	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	401					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)	GGAAACAATCACAGGGACTGG	0.542																																						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.(1201-1203)gTg>gGg		potassium voltage-gated channel, Shal-related subfamily, member 3							120	112	115					1																	112329633		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112329633A>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.1202T>G	1.37:g.112329633A>C	ENSP00000319591:p.Val401Gly		Somatic				KCND3_ENST00000302127.4_Missense_Mutation_p.V401G|KCND3_ENST00000315987.2_Missense_Mutation_p.V401G	p.V401G			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)	2	1271	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	401					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.1202T>G	CCDS843.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.624192	0.87560	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.99113	-5.44;-5.44;-5.44	4.84	4.84	0.62591	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99423	0.9796	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98530	1.0627	10	0.87932	D	0	.	14.3685	0.66823	1.0:0.0:0.0:0.0	.	401;401	Q14D71;Q9UK17	.;KCND3_HUMAN	G	401	ENSP00000358711:V401G;ENSP00000319591:V401G;ENSP00000306923:V401G	ENSP00000306923:V401G	V	-	2	0	KCND3	112131156	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	1.942000	0.56320	0.459000	0.35465	GTG		0.542	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		34	41	0	0	0	1	0	34	41					C	112329633	A	C	112329633	3	2	48	1	0	0	0	0	1	0	0	0	8029	159	6	4	789	4	KCND3	1	112329633	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	835028	112329633	136920988	200	4668										
WNT2B	7482	broad.mit.edu	37	chr1	113057506	113057506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgccttgcaggtacattgggGcactgggggcacgagtgatc	16	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:113057506G>A	ENST00000369684.4	+	2	678	c.193G>A	c.(193-195)Gca>Aca	p.A65T	WNT2B_ENST00000369686.5_Missense_Mutation_p.A46T|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000256640.5_5'UTR	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	65					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACATTGGGGCACTGGGGGC	0.562																																						ENST00000369684.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18						c.(193-195)Gca>Aca		wingless-type MMTV integration site family, member 2B							84	80	82					1																	113057506		2203	4300	6503	SO:0001583	missense	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113057506G>A	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.193G>A	1.37:g.113057506G>A	ENSP00000358698:p.Ala65Thr		Somatic				WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000369686.4_Missense_Mutation_p.A46T|WNT2B_ENST00000256640.5_5'UTR	p.A65T	NM_024494.2	NP_078613.1	WXS	Illumina GAIIx	Phase_I	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	678	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	65					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	c.193G>A	CCDS847.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461870	0.84425	.	.	ENSG00000134245	ENST00000369686;ENST00000369684	T;T	0.76316	-1.01;-0.89	5.56	5.56	0.83823	.	0.276343	0.27586	U	0.018705	T	0.59514	0.2199	N	0.08118	0	0.80722	D	1	B;P	0.35033	0.023;0.481	B;B	0.42738	0.074;0.396	T	0.66228	-0.5976	10	0.40728	T	0.16	.	19.136	0.93428	0.0:0.0:1.0:0.0	.	65;46	Q93097;Q93097-2	WNT2B_HUMAN;.	T	46;65	ENSP00000358700:A46T;ENSP00000358698:A65T	ENSP00000358698:A65T	A	+	1	0	WNT2B	112859029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.636000	0.83301	2.614000	0.88457	0.561000	0.74099	GCA		0.562	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		38	59	0	0	0	1	0	38	59					A	113057506	G	A	113057506	3	1	48	1	0	0	0	0	1	0	0	0	17402	1203	42	3	332	3	WNT2B	1	113057506	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	727873	113057506	136193115	201	4669										
WNT2B	7482	broad.mit.edu	37	chr1	113063068	113063068	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtacggtgcaaggaatgcagAaatactgtggacgtccatac	12	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:113063068A>C	ENST00000369684.4	+	5	1598	c.1113A>C	c.(1111-1113)agA>agC	p.R371S	WNT2B_ENST00000369686.5_Missense_Mutation_p.R352S|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000256640.5_Missense_Mutation_p.R279S	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	371					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGAATGCAGAAATACTGTGG	0.532																																						ENST00000369684.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18						c.(1111-1113)agA>agC		wingless-type MMTV integration site family, member 2B							176	148	157					1																	113063068		2203	4300	6503	SO:0001583	missense	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113063068A>C	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.1113A>C	1.37:g.113063068A>C	ENSP00000358698:p.Arg371Ser		Somatic				WNT2B_ENST00000369686.4_Missense_Mutation_p.R352S|WNT2B_ENST00000256640.5_Missense_Mutation_p.R279S	p.R371S	NM_024494.2	NP_078613.1	WXS	Illumina GAIIx	Phase_I	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1598	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	371					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	c.1113A>C	CCDS847.1	.	.	.	.	.	.	.	.	.	.	A	6.885	0.532742	0.13127	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.75821	-0.97;-0.97;-0.97	5.45	4.41	0.53225	.	0.096815	0.64402	D	0.000002	T	0.29028	0.0721	N	0.17564	0.495	0.34211	D	0.674299	B;B	0.21821	0.061;0.012	B;B	0.22152	0.038;0.022	T	0.09357	-1.0678	10	0.07325	T	0.83	.	4.7546	0.13077	0.5716:0.0:0.4284:0.0	.	371;352	Q93097;Q93097-2	WNT2B_HUMAN;.	S	279;352;371	ENSP00000256640:R279S;ENSP00000358700:R352S;ENSP00000358698:R371S	ENSP00000256640:R279S	R	+	3	2	WNT2B	112864591	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.359000	0.44142	0.905000	0.36596	0.533000	0.62120	AGA		0.532	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		11	41	0	0	0	1	0	11	41					C	113063068	A	C	113063068	3	2	48	1	0	0	0	0	1	0	0	0	17402	243	9	4	1264	4	WNT2B	1	113063068	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	5562	113063068	136187553	202	4670										
PTPN22	26191	broad.mit.edu	37	chr1	114372580	114372580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctaccacttacaatcttcatCggcaagaaagaaggactcta	6	11	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:114372580C>T	ENST00000359785.5	-	17	2260	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N	PTPN22_ENST00000538253.1_Missense_Mutation_p.D465N|PTPN22_ENST00000528414.1_Missense_Mutation_p.D654N|PTPN22_ENST00000420377.2_Missense_Mutation_p.D709N|PTPN22_ENST00000525799.1_Missense_Mutation_p.D582N|RP5-1073O3.2_ENST00000448199.1_RNA|PTPN22_ENST00000460620.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	709					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAATCTTCATCGGCAAGAAAG	0.353																																						ENST00000359785.5																			0				NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(2125-2127)Gat>Aat		protein tyrosine phosphatase, non-receptor type 22 (lymphoid)							59	61	60					1																	114372580		2202	4300	6502	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114372580C>T	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9652	protein-coding gene	gene with protein product		600716	"protein tyrosine phosphatase, non-receptor type 8"	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.2125G>A	1.37:g.114372580C>T	ENSP00000352833:p.Asp709Asn		Somatic				PTPN22_ENST00000538253.1_Missense_Mutation_p.D465N|PTPN22_ENST00000525799.1_Missense_Mutation_p.D582N|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.D654N|PTPN22_ENST00000420377.2_Missense_Mutation_p.D709N	p.D709N	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	WXS	Illumina GAIIx	Phase_I	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	17	2260	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	709					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.2125G>A	CCDS863.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640717	0.87859	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799	T;T;T;T;T	0.35048	3.61;3.24;1.33;3.31;2.71	5.84	5.84	0.93424	.	0.081904	0.52532	D	0.000077	T	0.50837	0.1639	M	0.64404	1.975	0.44142	D	0.996935	P;D;P;D;P	0.89917	0.58;0.991;0.742;1.0;0.932	B;B;B;D;B	0.91635	0.126;0.349;0.204;0.999;0.204	T	0.41645	-0.9497	10	0.45353	T	0.12	.	17.0719	0.86576	0.0:1.0:0.0:0.0	.	465;582;709;654;709	F5H2S8;E9PPI1;E9PMT0;E9PLD8;Q9Y2R2	.;.;.;.;PTN22_HUMAN	N	709;654;465;709;582	ENSP00000352833:D709N;ENSP00000435176:D654N;ENSP00000439372:D465N;ENSP00000388229:D709N;ENSP00000432674:D582N	ENSP00000352833:D709N	D	-	1	0	PTPN22	114174103	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.990000	0.29642	2.760000	0.94817	0.655000	0.94253	GAT		0.353	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		9	20	0	0	0	1	0	9	20					T	114372580	C	T	114372580	3	4	48	1	0	0	0	0	1	0	0	0	12802	884	31	1	318	1	PTPN22	1	114372580	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1309512	114372580	134878041	203	4671										
AP4B1	10717	broad.mit.edu	37	chr1	114438410	114438410	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggatgaagttttaggaagCtctgggtcacaacgctctgc	12	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:114438410C>T	ENST00000369569.1	-	9	2041	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	AP4B1_ENST00000256658.4_Silent_p.E587E|AP4B1_ENST00000369567.1_Silent_p.E419E|AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	587					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)		TTTTAGGAAGCTCTGGGTCAC	0.453																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(1759-1761)gaG>gaA		adaptor-related protein complex 4, beta 1 subunit							82	84	83					1																	114438410		2203	4300	6503	SO:0001819	synonymous_variant	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114438410C>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.1761G>A	1.37:g.114438410C>T			Somatic				AP4B1_ENST00000256658.4_Silent_p.E587E|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Silent_p.E419E|AP4B1_ENST00000462591.1_5'UTR	p.E587E	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)	9	2041	-	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)	587					B7Z4X3|Q59EJ4|Q96CL6	Silent	SNP	ENST00000369569.1	37	c.1761G>A	CCDS865.1																																																																																				0.453	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		14	31	0	0	0	1	0	14	31					T	114438410	C	T	114438410	2	4	48	1	0	0	0	0	0	0	0	1	751	796	28	3		3	AP4B1	1	114438410	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	65830	114438410	134812211	204	4672										
DCLRE1B	64858	broad.mit.edu	37	chr1	114450763	114450763	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcccgacaagaagctgcccAccagattgtccagctcattc	7	15	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:114450763A>G	ENST00000369563.3	+	3	934	c.488A>G	c.(487-489)cAc>cGc	p.H163R	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	163					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)		GAAGCTGCCCACCAGATTGTC	0.458								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.(487-489)cAc>cGc	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1B							162	146	152					1																	114450763		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.chr1:114450763A>G	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.488A>G	1.37:g.114450763A>G	ENSP00000358576:p.His163Arg		Somatic				DCLRE1B_ENST00000466480.1_3'UTR	p.H163R	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)	3	934	+	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)	163					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.488A>G	CCDS866.1	.	.	.	.	.	.	.	.	.	.	A	2.394	-0.339074	0.05243	.	.	ENSG00000118655	ENST00000369563	T	0.73258	-0.73	5.71	-3.48	0.04739	Beta-lactamase-like (1);	0.600546	0.19125	N	0.122062	T	0.12774	0.0310	N	0.01188	-0.97	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44952	-0.9294	10	0.09590	T	0.72	1.1675	9.8377	0.40980	0.5141:0.0:0.3974:0.0885	.	163	Q9H816	DCR1B_HUMAN	R	163	ENSP00000358576:H163R	ENSP00000358576:H163R	H	+	2	0	DCLRE1B	114252286	0.000000	0.05858	0.079000	0.20413	0.981000	0.71138	0.212000	0.17497	-0.531000	0.06340	0.459000	0.35465	CAC		0.458	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		5	108	0	0	0	1	0	5	108					G	114450763	A	G	114450763	3	3	48	1	0	0	0	0	1	0	0	0	4297	159	6	4	498	4	DCLRE1B	1	114450763	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	12353	114450763	134799858	205	4673										
TRIM33	51592	broad.mit.edu	37	chr1	114964082	114964082	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgggtggaatatctggcagCgatggaaggttttctggatt	15	4	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:114964082C>T	ENST00000358465.2	-	11	2120	c.2037G>A	c.(2035-2037)tcG>tcA	p.S679S	TRIM33_ENST00000450349.2_Silent_p.S287S|TRIM33_ENST00000369543.2_Silent_p.S679S	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	679					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)		TATCTGGCAGCGATGGAAGGT	0.403			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.(2035-2037)tcG>tcA		tripartite motif containing 33							193	184	187					1																	114964082		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.chr1:114964082C>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.2037G>A	1.37:g.114964082C>T			Somatic				TRIM33_ENST00000369543.2_Silent_p.S679S|TRIM33_ENST00000450349.2_Silent_p.S287S	p.S679S	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)	11	2120	-	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)	679					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Silent	SNP	ENST00000358465.2	37	c.2037G>A	CCDS872.1	.	.	.	.	.	.	.	.	.	.	C	8.426	0.847512	0.17034	.	.	ENSG00000197323	ENST00000448034	.	.	.	5.87	-11.7	0.00046	.	.	.	.	.	T	0.27629	0.0679	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54357	-0.8306	4	.	.	.	-8.3394	8.357	0.32335	0.0633:0.1145:0.2409:0.5812	.	.	.	.	H	416	.	.	R	-	2	0	TRIM33	114765605	0.092000	0.21681	0.035000	0.18076	0.977000	0.68977	-0.598000	0.05706	-2.489000	0.00518	-0.812000	0.03155	CGC		0.403	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		21	64	0	0	0	1	0	21	64					T	114964082	C	T	114964082	2	4	48	1	0	0	0	0	0	0	0	1	16522	755	27	1		1	TRIM33	1	114964082	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	513319	114964082	134286539	206	4674										
NRAS	4893	broad.mit.edu	37	chr1	115256514	115256514	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcatgtattggtctctcatgGcactgtactcttcttgtcca	7	11	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:115256514G>A	ENST00000369535.4	-	3	450	c.197C>T	c.(196-198)gCc>gTc	p.A66V		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	66					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-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)		GTCTCTCATGGCACTGTACTC	0.443		50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4		50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"L, E"			"melanoma, MM, AML, thyroid"		0				NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(196-198)gCc>gTc		neuroblastoma RAS viral (v-ras) oncogene homolog							187	160	169					1																	115256514		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256514G>A	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.197C>T	1.37:g.115256514G>A	ENSP00000358548:p.Ala66Val	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.A66V	NM_002524.4	NP_002515.1	WXS	Illumina GAIIx	Phase_I	P01111	RASN_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)	3	450	-	all_epithelial(7;5.11e-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)	66					Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.197C>T	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359173	0.82353	.	.	ENSG00000213281	ENST00000369535	T	0.77750	-1.12	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000035	T	0.73659	0.3615	M	0.77616	2.38	0.80722	D	1	B	0.20164	0.042	B	0.20184	0.028	T	0.74639	-0.3598	10	0.87932	D	0	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	66	P01111	RASN_HUMAN	V	66	ENSP00000358548:A66V	ENSP00000358548:A66V	A	-	2	0	NRAS	115058037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.554000	0.98121	2.624000	0.88883	0.655000	0.94253	GCC		0.443	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		39	73	0	0	0	1	0	39	73					A	115256514	G	A	115256514	3	1	48	1	0	0	0	0	1	0	0	0	10649	1203	42	3	384	3	NRAS	1	115256514	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	292432	115256514	133994107	207	4675										
SYCP1	6847	broad.mit.edu	37	chr1	115487508	115487508	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gataggttgagaaagcaaaaGtaatagctgatgaagcagta	12	3	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:115487508G>T	ENST00000369522.3	+	25	2299	c.2059G>T	c.(2059-2061)Gta>Tta	p.V687L	SYCP1_ENST00000369518.1_Missense_Mutation_p.V687L	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	687					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)		GAAAGCAAAAGTAATAGCTGA	0.264																																						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.(2059-2061)Gta>Tta		synaptonemal complex protein 1							35	36	35					1																	115487508		2199	4275	6474	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115487508G>T	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2059G>T	1.37:g.115487508G>T	ENSP00000358535:p.Val687Leu		Somatic				SYCP1_ENST00000369518.1_Missense_Mutation_p.V687L	p.V687L	NM_003176.2	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)	25	2299	+	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)	687					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.2059G>T	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	7.733	0.699703	0.15106	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.48522	0.81;0.81;0.81	4.91	1.08	0.20341	.	1.392340	0.04212	N	0.331914	T	0.13798	0.0334	L	0.38531	1.155	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.09885	-1.0654	10	0.25751	T	0.34	-0.8368	1.5253	0.02524	0.2514:0.1216:0.4473:0.1797	.	687;687	B7ZLS9;Q15431	.;SYCP1_HUMAN	L	687	ENSP00000358535:V687L;ENSP00000410011:V687L;ENSP00000358531:V687L	ENSP00000358531:V687L	V	+	1	0	SYCP1	115289031	0.856000	0.29760	0.650000	0.29550	0.980000	0.70556	0.443000	0.21644	0.326000	0.23384	0.650000	0.86243	GTA		0.264	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		6	18	1	0	3.59834e-05	1	3.93264e-05	6	18					T	115487508	G	T	115487508	3	4	48	1	0	0	0	0	1	0	0	0	15446	1029	36	5	2153	5	SYCP1	1	115487508	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	230994	115487508	133763113	208	4676										
IGSF3	3321	broad.mit.edu	37	chr1	117150700	117150700	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctggcggaggtggtagatCttcagcacaaagacactgtc	12	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:117150700C>A	ENST00000369486.3	-	5	1851	c.1086G>T	c.(1084-1086)aaG>aaT	p.K362N	IGSF3_ENST00000369483.1_Missense_Mutation_p.K362N|IGSF3_ENST00000318837.6_Missense_Mutation_p.K362N	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	362	Ig-like C2-type 3.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGTGGTAGATCTTCAGCACAA	0.542																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(1084-1086)aaG>aaT		immunoglobulin superfamily, member 3							75	72	73					1																	117150700		2203	4299	6502	SO:0001583	missense	3321					integral to membrane		g.chr1:117150700C>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1086G>T	1.37:g.117150700C>A	ENSP00000358498:p.Lys362Asn		Somatic				IGSF3_ENST00000369483.1_Missense_Mutation_p.K362N|IGSF3_ENST00000318837.6_Missense_Mutation_p.K362N	p.K362N	NM_001007237.1	NP_001007238.1	WXS	Illumina GAIIx	Phase_I	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	5	1851	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	362			Ig-like C2-type 3.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1086G>T	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673957	0.67928	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.67865	-0.29;-0.29;-0.29	4.67	1.78	0.24846	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.112191	0.64402	D	0.000013	T	0.59321	0.2185	L	0.32530	0.975	0.53688	D	0.999975	D;D;D	0.89917	0.99;1.0;0.992	D;D;D	0.91635	0.949;0.999;0.97	T	0.62567	-0.6827	10	0.66056	D	0.02	-57.2638	8.1752	0.31278	0.0:0.73:0.0:0.27	.	362;362;362	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	N	362	ENSP00000358498:K362N;ENSP00000358495:K362N;ENSP00000321184:K362N	ENSP00000321184:K362N	K	-	3	2	IGSF3	116952223	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.102000	0.41796	0.294000	0.22547	0.557000	0.71058	AAG		0.542	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		31	92	1	0	7.61001e-30	1	1.08524e-29	31	92					A	117150700	C	A	117150700	3	1	48	1	0	0	0	0	1	0	0	0	7610	912	32	2	2590	2	IGSF3	1	117150700	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1663192	117150700	132099921	209	4677										
CD101	9398	broad.mit.edu	37	chr1	117552698	117552698	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtatatacgcagcgggtgcgAagcggagacgtctacgtgga	16	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:117552698A>G	ENST00000256652.4	+	2	328	c.270A>G	c.(268-270)cgA>cgG	p.R90R	CD101_ENST00000369470.1_Silent_p.R90R	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	90	Ig-like C2-type 1.				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)	p.R90R(1)		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						AGCGGGTGCGAAGCGGAGACG	0.532																																						ENST00000256652.4																			1	Substitution - coding silent(1)	p.R90R(1)	lung(1)	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.(268-270)cgA>cgG		CD101 molecule							95	85	88					1																	117552698		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:117552698A>G	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.270A>G	1.37:g.117552698A>G			Somatic				CD101_ENST00000369470.1_Silent_p.R90R	p.R90R	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	328	+			90			Ig-like C2-type 1.		Q15856	Silent	SNP	ENST00000256652.4	37	c.270A>G	CCDS891.1																																																																																				0.532	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		22	28	0	0	0	1	0	22	28					G	117552698	A	G	117552698	2	3	48	1	0	0	0	0	0	0	0	1	2964	233	9	4		4	CD101	1	117552698	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	401998	117552698	131697923	210	4678										
CD101	9398	broad.mit.edu	37	chr1	117554504	117554504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agctgttctgtgaggcaacgGaatggattcaggatccagat	13	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:117554504G>A	ENST00000256652.4	+	3	815	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	CD101_ENST00000369470.1_Missense_Mutation_p.E253K	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	253	Ig-like C2-type 2.				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						TGAGGCAACGGAATGGATTCA	0.493																																						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.(757-759)Gaa>Aaa		CD101 molecule							67	65	65					1																	117554504		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.chr1:117554504G>A	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.757G>A	1.37:g.117554504G>A	ENSP00000256652:p.Glu253Lys		Somatic				CD101_ENST00000369470.1_Missense_Mutation_p.E253K	p.E253K	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			3	815	+			253			Ig-like C2-type 2.		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.757G>A	CCDS891.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.503090	0.64298	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.55052	0.54;0.54	5.57	5.57	0.84162	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.72003	0.3407	M	0.85373	2.75	0.47276	D	0.999371	D	0.89917	1.0	D	0.87578	0.998	T	0.76206	-0.3044	10	0.72032	D	0.01	-25.4491	17.0403	0.86487	0.0:0.0:1.0:0.0	.	253	Q93033	IGSF2_HUMAN	K	253	ENSP00000256652:E253K;ENSP00000358482:E253K	ENSP00000256652:E253K	E	+	1	0	CD101	117356027	1.000000	0.71417	0.358000	0.25811	0.272000	0.26649	7.512000	0.81728	2.643000	0.89663	0.591000	0.81541	GAA		0.493	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		11	25	0	0	0	1	0	11	25					A	117554504	G	A	117554504	3	1	48	1	0	0	0	0	1	0	0	0	2964	1175	41	3	767	3	CD101	1	117554504	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1806	117554504	131696117	211	4679										
MAN1A2	10905	broad.mit.edu	37	chr1	118042105	118042105	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctccgtccagaagtaattGaaacctattggtacctatgg	8	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:118042105G>T	ENST00000356554.3	+	11	2341	c.1606G>T	c.(1606-1608)Gaa>Taa	p.E536*		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	536					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)		AGAAGTAATTGAAACCTATTG	0.453																																					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.(1606-1608)Gaa>Taa		mannosidase, alpha, class 1A, member 2							81	78	79					1																	118042105		2203	4300	6503	SO:0001587	stop_gained	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.chr1:118042105G>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.1606G>T	1.37:g.118042105G>T	ENSP00000348959:p.Glu536*		Somatic					p.E536*	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)	11	2341	+	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)	536					Q9H510	Nonsense_Mutation	SNP	ENST00000356554.3	37	c.1606G>T	CCDS895.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	36|36|36	5.845408|5.845408|5.845408	0.97016|0.97016|0.97016	.|.|.	.|.|.	ENSG00000198162|ENSG00000198162|ENSG00000198162	ENST00000356554;ENST00000369450;ENST00000329466|ENST00000449370|ENST00000421535	.|.|.	.|.|.	.|.|.	5.18|5.18|5.18	5.18|5.18|5.18	0.71444|0.71444|0.71444	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	.|T|.	.|0.64338|.	.|0.2589|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.64584|.	.|-0.6373|.	.|3|.	0.87932|.|.	D|.|.	0|.|.	-24.3336|-24.3336|-24.3336	16.1857|16.1857|16.1857	0.81950|0.81950|0.81950	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|F|L	536;300;70|268|102	.|.|.	ENSP00000358462:E70X|.|.	E|L|X	+|+|+	1|3|2	0|2|2	MAN1A2|MAN1A2|MAN1A2	117843628|117843628|117843628	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	9.827000|9.827000|9.827000	0.99397|0.99397|0.99397	2.422000|2.422000|2.422000	0.82143|0.82143|0.82143	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|TTG|TGA		0.453	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699		14	29	1	0	0.0202918	1	0.0207569	14	29					T	118042105	G	T	118042105	4	4	48	1	0	0	0	0	0	1	0	0	9220	1291	45	2	1648	2	MAN1A2	1	118042105	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	487601	118042105	131208516	212	4680										
MAN1A2	10905	broad.mit.edu	37	chr1	118045593	118045593	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttcttgctgaaacattaaaGtaagtatatagctttaaaaa	5	4	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:118045593G>T	ENST00000356554.3	+	12	2528		c.e12+1			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)		AAACATTAAAGTAAGTATATA	0.333																																					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.e12+1		mannosidase, alpha, class 1A, member 2							54	51	52					1																	118045593		2201	4296	6497	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.chr1:118045593G>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.1793+1G>T	1.37:g.118045593G>T			Somatic						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)	12	2528	+	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|G	20.5|20.5	4.001502|4.001502	0.74818|0.74818	.|.	.|.	ENSG00000198162|ENSG00000198162	ENST00000356554;ENST00000329466;ENST00000449370;ENST00000421535;ENST00000422329|ENST00000369450	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67002	.|0.2847	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65438	.|-0.6168	.|4	.|.	.|.	.|.	.|-20.8387	16.8979|16.8979	0.86105|0.86105	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|N	-1|362	.|.	.|.	.|K	+|+	.|3	.|2	MAN1A2|MAN1A2	117847116|117847116	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	9.434000|9.434000	0.97515|0.97515	2.591000|2.591000	0.87537|0.87537	0.603000|0.603000	0.83216|0.83216	.|AAG		0.333	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699	Intron	8	7	1	0	5.18039e-06	1	5.75679e-06	8	7					T	118045593	G	T	118045593	5	4	48	1	0	0	0	0	0	0	1	0	9220	1043	36	5	1840	5	MAN1A2	1	118045593	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3488	118045593	131205028	213	4681										
SPAG17	200162	broad.mit.edu	37	chr1	118530745	118530745	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacctccatgtcttttcaaaGaaatctttaccaaatgtgtc	4	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:118530745G>T	ENST00000336338.5	-	39	5669	c.5604C>A	c.(5602-5604)ttC>ttA	p.F1868L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1868						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTTTTCAAAGAAATCTTTAC	0.363																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(5602-5604)ttC>ttA		sperm associated antigen 17							69	65	66					1																	118530745		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118530745G>T		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.5604C>A	1.37:g.118530745G>T	ENSP00000337804:p.Phe1868Leu		Somatic					p.F1868L	NM_206996.2	NP_996879.1	WXS	Illumina GAIIx	Phase_I	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	39	5669	-	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)	1868					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.5604C>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.274131	0.00257	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.17691	2.26	4.05	-0.104	0.13605	.	1.061000	0.07219	N	0.860532	T	0.04815	0.0130	M	0.68317	2.08	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.43097	-0.9412	10	0.13108	T	0.6	.	3.3471	0.07139	0.2037:0.0:0.4066:0.3897	.	1868	Q6Q759	SPG17_HUMAN	L	1868;348	ENSP00000337804:F1868L	ENSP00000337804:F1868L	F	-	3	2	SPAG17	118332268	0.031000	0.19500	0.006000	0.13384	0.004000	0.04260	0.214000	0.17541	-0.012000	0.14223	-1.047000	0.02352	TTC		0.363	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		4	10	1	0	0.150653	1	0.151842	4	10					T	118530745	G	T	118530745	3	4	48	1	0	0	0	0	1	0	0	0	14994	933	33	2	1107	2	SPAG17	1	118530745	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	485152	118530745	130719876	214	4682										
HSD3B2	3284	broad.mit.edu	37	chr1	119964880	119964880	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaagtgtccgaggtcaattCtattacatctcagatgacac	7	11	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:119964880C>A	ENST00000543831.1	+	4	1005	c.756C>A	c.(754-756)ttC>ttA	p.F252L	HSD3B2_ENST00000369416.3_Missense_Mutation_p.F252L	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	252					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)	GAGGTCAATTCTATTACATCT	0.527																																						ENST00000543831.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27						c.(754-756)ttC>ttA		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	NADH(DB00157)|Trilostane(DB01108)						52	56	54					1																	119964880		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.chr1:119964880C>A	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5218	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 2"	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.756C>A	1.37:g.119964880C>A	ENSP00000445122:p.Phe252Leu		Somatic				HSD3B2_ENST00000369416.3_Missense_Mutation_p.F252L	p.F252L	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	1005	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	252					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.756C>A	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	15.82	2.946728	0.53186	.	.	ENSG00000203859	ENST00000543831;ENST00000369416	D;D	0.87571	-2.27;-2.27	3.98	3.07	0.35406	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.048758	0.85682	D	0.000000	D	0.91549	0.7331	M	0.91459	3.21	0.42338	D	0.99232	D	0.56287	0.975	P	0.62184	0.899	D	0.91862	0.5500	9	.	.	.	0.6244	10.4856	0.44719	0.0:0.9022:0.0:0.0977	.	252	P26439	3BHS2_HUMAN	L	252	ENSP00000445122:F252L;ENSP00000358424:F252L	.	F	+	3	2	HSD3B2	119766403	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	2.294000	0.43567	0.681000	0.31386	0.298000	0.19748	TTC		0.527	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		31	51	1	0	5.60225e-13	1	7.13348e-13	31	51					A	119964880	C	A	119964880	3	1	48	1	0	0	0	0	1	0	0	0	7400	912	32	2	766	2	HSD3B2	1	119964880	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1434135	119964880	129285741	215	4683										
ADAM30	11085	broad.mit.edu	37	chr1	120437706	120437706	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgatctttctgacactcctcTgtggaaccacagtcacattc	6	14	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:120437706T>C	ENST00000369400.1	-	1	1412	c.1254A>G	c.(1252-1254)acA>acG	p.T418T		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	418	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GACACTCCTCTGTGGAACCAC	0.433																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(1252-1254)acA>acG		ADAM metallopeptidase domain 30							179	169	172					1																	120437706		2203	4300	6503	SO:0001819	synonymous_variant	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120437706T>C	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1254A>G	1.37:g.120437706T>C			Somatic					p.T418T	NM_021794.3	NP_068566.2	WXS	Illumina GAIIx	Phase_I	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	1412	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	418			Disintegrin.		A8K8W8|Q5T3X6|Q9UKF1	Silent	SNP	ENST00000369400.1	37	c.1254A>G	CCDS907.1																																																																																				0.433	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		9	134	0	0	0	1	0	9	134					C	120437706	T	C	120437706	2	2	48	1	0	0	0	0	0	0	0	1	248	1567	55	4		4	ADAM30	1	120437706	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	472826	120437706	128812915	216	4684										
FAM72B	653820	broad.mit.edu	37	chr1	120846067	120846067	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctgcaacaacggacacttCtggatgtttcacagccaggc	9	13	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:120846067C>A	ENST00000369390.3	+	3	1132	c.303C>A	c.(301-303)ttC>ttA	p.F101L	FAM72B_ENST00000471903.2_3'UTR|FAM72B_ENST00000355228.4_Missense_Mutation_p.F61L	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	101										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		ACGGACACTTCTGGATGTTTC	0.378																																						ENST00000369390.3																			0				large_intestine(1)|lung(2)	3						c.(301-303)ttC>ttA		family with sequence similarity 72, member B							293	272	279					1																	120846067		1868	4109	5977	SO:0001583	missense	653820							g.chr1:120846067C>A	AL357493	CCDS72848.1	1p12	2014-05-06			ENSG00000188610	ENSG00000188610			24805	protein-coding gene	gene with protein product		614711					Standard	NM_001100910		Approved	RP11-439A17.6	uc009whp.3	Q86X60	OTTHUMG00000185025	ENST00000369390.3:c.303C>A	1.37:g.120846067C>A	ENSP00000358397:p.Phe101Leu		Somatic				FAM72B_ENST00000355228.4_Missense_Mutation_p.F61L|FAM72B_ENST00000471903.2_3'UTR	p.F101L	NM_001100910.1	NP_001094380.1	WXS	Illumina GAIIx	Phase_I	Q86X60	FA72B_HUMAN		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	3	1132	+	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)	101					B2RPQ5|Q5QP15	Missense_Mutation	SNP	ENST00000369390.3	37	c.303C>A	CCDS41374.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233731	0.39498	.	.	ENSG00000188610	ENST00000369392;ENST00000369390;ENST00000452190;ENST00000355228	T;T;T	0.32023	1.47;1.47;1.47	2.54	2.54	0.30619	.	0.000000	0.85682	U	0.000000	T	0.34948	0.0915	L	0.58428	1.81	0.52501	D	0.999951	D;B	0.67145	0.996;0.009	D;B	0.77557	0.99;0.013	T	0.07214	-1.0784	10	0.32370	T	0.25	.	10.8119	0.46551	0.0:1.0:0.0:0.0	.	101;61	Q86X60;Q86X60-2	FA72B_HUMAN;.	L	72;101;72;61	ENSP00000358397:F101L;ENSP00000392882:F72L;ENSP00000347368:F61L	ENSP00000347368:F61L	F	+	3	2	FAM72B	120647590	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.459000	0.66685	1.431000	0.47355	0.398000	0.26397	TTC		0.378	FAM72B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098437.1			82	128	1	0	1.69331e-39	1	2.44455e-39	82	128					A	120846067	C	A	120846067	3	1	48	1	0	0	0	0	1	0	0	0	5623	912	32	2	313	2	FAM72B	1	120846067	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	408361	120846067	128404554	217	4685										
FCGR1B	2210	broad.mit.edu	37	chr1	120927161	120927161	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtggccccctggggctccttCcggtgcaccccttcctgcag	12	18	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:120927161C>T	ENST00000369384.4	-	5	861	c.819G>A	c.(817-819)cgG>cgA	p.R273R	FCGR1B_ENST00000369383.4_Silent_p.R181R|FCGR1B_ENST00000472543.1_5'Flank|RP11-439A17.9_ENST00000457996.1_RNA|RP11-439A17.10_ENST00000426275.1_RNA	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	273					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)|Fc receptor signaling pathway (GO:0038093)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	immunoglobulin receptor activity (GO:0019763)			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	Intravenous Immunoglobulin(DB00028)	GGGGCTCCTTCCGGTGCACCC	0.542																																						ENST00000369384.4																			0				breast(1)|endometrium(1)|lung(2)	4						c.(817-819)cgG>cgA		Fc fragment of IgG, high affinity Ib, receptor (CD64)							32	35	34					1																	120927161		2201	4297	6498	SO:0001819	synonymous_variant	2210				interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity	g.chr1:120927161C>T		CCDS72844.1, CCDS72845.1, CCDS72846.1	1p11.2	2013-01-11	2005-02-02		ENSG00000198019	ENSG00000198019		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3614	protein-coding gene	gene with protein product		601502	"Fc fragment of IgG, high affinity Ib, receptor for (CD64)"			8697799, 9763663	Standard	NM_001017986		Approved	CD64b	uc001eip.3	Q92637	OTTHUMG00000040903	ENST00000369384.4:c.819G>A	1.37:g.120927161C>T			Somatic				RP11-439A17.9_ENST00000457996.1_RNA|RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000369383.4_Silent_p.R181R	p.R273R	NM_001017986.3	NP_001017986.1	WXS	Illumina GAIIx	Phase_I	Q92637	FCGRB_HUMAN		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	5	861	-	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)	273					Q7KZ13|Q92638	Silent	SNP	ENST00000369384.4	37	c.819G>A	CCDS30821.1	.	.	.	.	.	.	.	.	.	.	C	1.661	-0.511383	0.04231	.	.	ENSG00000198019	ENST00000369178	.	.	.	1.52	0.535	0.17133	.	.	.	.	.	T	0.08714	0.0216	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.34179	-0.9839	4	.	.	.	.	3.2858	0.06931	0.0:0.6977:0.0:0.3023	.	.	.	.	K	258	.	.	E	-	1	0	FCGR1B	120728684	0.002000	0.14202	0.115000	0.21578	0.064000	0.16182	0.147000	0.16202	0.198000	0.20407	0.184000	0.17185	GAA		0.542	FCGR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098241.1			16	39	0	0	0	1	0	16	39					T	120927161	C	T	120927161	2	4	48	1	0	0	0	0	0	0	0	1	5788	842	30	3		3	FCGR1B	1	120927161	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	81094	120927161	128323460	218	4686										
PDE4DIP	9659	broad.mit.edu	37	chr1	144879545	144879545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaggaccatttccttgaggCtgttgtgctcctcacactct	8	13	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:144879545C>T	ENST00000369354.3	-	27	4094	c.3905G>A	c.(3904-3906)aGc>aAc	p.S1302N	RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1258N|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1302N|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1438N|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1438N|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1302					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)		TTCCTTGAGGCTGTTGTGCTC	0.527			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.(4312-4314)aGc>aAc		phosphodiesterase 4D interacting protein							61	65	64					1																	144879545		2203	4295	6498	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879545C>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.3905G>A	1.37:g.144879545C>T	ENSP00000358360:p.Ser1302Asn		Somatic				PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1302N|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1302N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1258N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1438N	p.S1438N			WXS	Illumina GAIIx	Phase_I	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4351	-			1302					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.4313G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	2.888	-0.230223	0.05983	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01705	4.68;4.79;4.79;4.79;4.79	5.69	1.33	0.21861	.	.	.	.	.	T	0.00412	0.0013	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.09377	0.003;0.004	T	0.43734	-0.9373	9	0.17369	T	0.5	.	3.6139	0.08070	0.2089:0.4023:0.0:0.3888	.	1258;1302	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	N	1258;1302;1302;1438;1438	ENSP00000327209:S1258N;ENSP00000358360:S1302N;ENSP00000358363:S1302N;ENSP00000435654:S1438N;ENSP00000358366:S1438N	ENSP00000327209:S1258N	S	-	2	0	PDE4DIP	143590902	0.877000	0.30153	0.017000	0.16124	0.161000	0.22273	0.810000	0.27183	0.333000	0.23563	0.655000	0.94253	AGC		0.527	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		10	86	0	0	0	1	0	10	86					T	144879545	C	T	144879545	3	4	48	1	0	0	0	0	1	0	0	0	11652	797	28	3	3207	3	PDE4DIP	1	144879545	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	23952384	144879545	104371076	219	4687										
PDE4DIP	9659	broad.mit.edu	37	chr1	145075802	145075802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgagcccggcgggacgcgcGacagcagcagccaaagtcgc	16	14	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:145075802G>A	ENST00000530740.1	-	1	99	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R21C|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R21C|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R21C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGGGACGCGCGACAGCAGCAG	0.697			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.(61-63)Cgc>Tgc		phosphodiesterase 4D interacting protein							43	54	50					1																	145075802		2200	4287	6487	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145075802G>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	ENST00000530740.1:c.61C>T	1.37:g.145075802G>A	ENSP00000435654:p.Arg21Cys		Somatic				PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R21C|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R21C|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R21C	p.R21C			WXS	Illumina GAIIx	Phase_I	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	99	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000530740.1	37	c.61C>T		.	.	.	.	.	.	.	.	.	.	G	13.84	2.357507	0.41801	.	.	ENSG00000178104	ENST00000530740;ENST00000369359;ENST00000369348;ENST00000369345	T;T;T	0.16897	3.63;3.61;2.31	2.06	-1.18	0.09617	.	.	.	.	.	T	0.02727	0.0082	N	0.19112	0.55	0.20074	N	0.999937	B;B	0.14012	0.009;0.001	B;B	0.01281	0.0;0.0	T	0.44452	-0.9327	9	0.39692	T	0.17	.	5.3662	0.16115	0.402:0.0:0.598:0.0	.	21;21	Q5TB27;E9PJ64	.;.	C	21	ENSP00000435654:R21C;ENSP00000358366:R21C;ENSP00000358354:R21C	ENSP00000358351:R21C	R	-	1	0	PDE4DIP	143787159	0.011000	0.17503	0.050000	0.19076	0.375000	0.29983	0.423000	0.21313	-0.358000	0.08162	0.511000	0.50034	CGC		0.697	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		8	117	0	0	0	1	0	8	117					A	145075802	G	A	145075802	3	1	48	1	0	0	0	0	1	0	0	0	11652	1058	37	1	8751	1	PDE4DIP	1	145075802	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	196257	145075802	104174819	220	4688										
ANKRD35	148741	broad.mit.edu	37	chr1	145562646	145562646	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggccccagcatccccccaAgtggccgctctggagcaaga	11	16	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:145562646A>G	ENST00000355594.4	+	10	2421	c.2334A>G	c.(2332-2334)caA>caG	p.Q778Q		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	778										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)					CATCCCCCCAAGTGGCCGCTC	0.627																																					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.(2332-2334)caA>caG		ankyrin repeat domain 35							10	12	11					1																	145562646		2163	4253	6416	SO:0001819	synonymous_variant	148741							g.chr1:145562646A>G	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.2334A>G	1.37:g.145562646A>G			Somatic					p.Q778Q	NM_144698.3	NP_653299.3	WXS	Illumina GAIIx	Phase_I	Q8N283	ANR35_HUMAN			10	2421	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		778					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	c.2334A>G	CCDS919.1																																																																																				0.627	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		7	5	0	0	0	1	0	7	5					G	145562646	A	G	145562646	2	3	48	1	0	0	0	0	0	0	0	1	664	69	3	4		4	ANKRD35	1	145562646	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	486844	145562646	103687975	221	4689										
GPR89A	653519	broad.mit.edu	37	chr1	145765393	145765393	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atctgtgctaatagcaggacAatgacattggaggacttact	10	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:145765393A>G	ENST00000313835.9	-	13	1280	c.1137T>C	c.(1135-1137)atT>atC	p.I379I	GPR89A_ENST00000454423.3_Silent_p.I259I|GPR89A_ENST00000462900.2_Silent_p.I354I|GPR89A_ENST00000534502.1_Silent_p.I354I			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	379				I -> T (in Ref. 7; BAD96943). {ECO:0000305}.	intracellular pH reduction (GO:0051452)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|regulation of anion transport (GO:0044070)|signal transduction (GO:0007165)	Golgi cisterna membrane (GO:0032580)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)|voltage-gated anion channel activity (GO:0008308)			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	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)			ATAGCAGGACAATGACATTGG	0.338																																						ENST00000313835.9																			0				breast(1)|large_intestine(3)|lung(1)|skin(1)	6						c.(1135-1137)atT>atC		G protein-coupled receptor 89A							194	225	215					1																	145765393		2197	4297	6494	SO:0001819	synonymous_variant	653519				intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity	g.chr1:145765393A>G	AB097024	CCDS72857.1, CCDS72858.1	1q21.1	2008-12-17	2007-06-06	2007-06-06	ENSG00000117262	ENSG00000117262			31984	protein-coding gene	gene with protein product		612821					Standard	NM_001097612		Approved	UNQ192	uc001eot.2	B7ZAQ6	OTTHUMG00000013738	ENST00000313835.9:c.1137T>C	1.37:g.145765393A>G			Somatic				GPR89A_ENST00000462900.2_Silent_p.I354I|GPR89A_ENST00000534502.1_Silent_p.I354I|GPR89A_ENST00000454423.3_Silent_p.I259I	p.I379I			WXS	Illumina GAIIx	Phase_I	B7ZAQ6	GPHRA_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		13	1280	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		379	I -> T (in Ref. 6; BAD96943).				A6NN37|B2RUV3|B3KMN3|B4DLT3|B4DXE7|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Silent	SNP	ENST00000313835.9	37	c.1137T>C	CCDS41377.1																																																																																				0.338	GPR89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038507.2	NM_001097612		37	165	0	0	0	1	0	37	165					G	145765393	A	G	145765393	2	3	48	1	0	0	0	0	0	0	0	1	6726	126	5	4		4	GPR89A	1	145765393	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	202747	145765393	103485228	222	4690										
OTUD7B	56957	broad.mit.edu	37	chr1	149943146	149943146	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgacgtagctgttcaaaaTcactgagggcggcattcaca	10	10	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:149943146T>G	ENST00000369135.4	-	3	413	c.119A>C	c.(118-120)gAt>gCt	p.D40A	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	40					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CTGTTCAAAATCACTGAGGGC	0.473																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(118-120)gAt>gCt		OTU domain containing 7B							119	118	119					1																	149943146		1953	4146	6099	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149943146T>G	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.119A>C	1.37:g.149943146T>G	ENSP00000358131:p.Asp40Ala		Somatic				OTUD7B_ENST00000479905.1_5'UTR	p.D40A	NM_020205.2	NP_064590.2	WXS	Illumina GAIIx	Phase_I	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		3	413	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		40					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.119A>C	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.594402	0.86953	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.40756	1.02;1.27	5.19	5.19	0.71726	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.53142	0.1778	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54255	-0.8321	9	.	.	.	-3.542	14.0216	0.64558	0.0:0.0:0.0:1.0	.	40	Q6GQQ9	OTU7B_HUMAN	A	40	ENSP00000358131:D40A;ENSP00000408231:D40A	.	D	-	2	0	OTUD7B	148209770	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.439000	0.80444	2.177000	0.69029	0.528000	0.53228	GAT		0.473	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		5	64	0	0	0	1	0	5	64					G	149943146	T	G	149943146	3	3	48	1	0	0	0	0	1	0	0	0	11328	1435	50	4	2452	4	OTUD7B	1	149943146	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	4177753	149943146	99307475	223	4691										
ANP32E	81611	broad.mit.edu	37	chr1	150193064	150193064	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccctcgaagacctccttcttCttaaagagtggaaagaaaaa	7	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150193064C>A	ENST00000314136.8	-	7	1106		c.e7-1		ANP32E_ENST00000533654.1_Splice_Site|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369115.2_Splice_Site|ANP32E_ENST00000369119.3_Splice_Site|ANP32E_ENST00000369116.4_Splice_Site|ANP32E_ENST00000436748.2_Splice_Site	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E						histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	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)			CCTCCTTCTTCTTAAAGAGTG	0.383																																						ENST00000314136.8																			0				breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15						c.e7-1		acidic (leucine-rich) nuclear phosphoprotein 32 family, member E							211	205	207					1																	150193064		2203	4300	6503	SO:0001630	splice_region_variant	81611					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity	g.chr1:150193064C>A	AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"ANP32 acidic nuclear phosphoproteins"	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.737-1G>T	1.37:g.150193064C>A			Somatic				ANP32E_ENST00000369119.3_Splice_Site|ANP32E_ENST00000369115.2_Splice_Site|ANP32E_ENST00000533654.1_Splice_Site|ANP32E_ENST00000436748.2_Splice_Site|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369116.4_Splice_Site		NM_001136478.2|NM_030920.3	NP_001129950.1|NP_112182.1	WXS	Illumina GAIIx	Phase_I	Q9BTT0	AN32E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		7	1106	-	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)							B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Splice_Site	SNP	ENST00000314136.8	37		CCDS946.1	.	.	.	.	.	.	.	.	.	.	C	9.270	1.045410	0.19748	.	.	ENSG00000143401	ENST00000314136;ENST00000369119;ENST00000369116;ENST00000436748;ENST00000534437;ENST00000369115	.	.	.	5.61	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0031	0.58687	0.2941:0.7059:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANP32E	148459688	1.000000	0.71417	0.330000	0.25442	0.278000	0.26855	5.077000	0.64419	0.777000	0.33496	0.655000	0.94253	.		0.383	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1	NM_030920	Intron	42	95	1	0	7.63091e-17	1	1.01921e-16	42	95					A	150193064	C	A	150193064	5	1	48	1	0	0	0	0	0	0	1	0	709	927	32	2	74	2	ANP32E	1	150193064	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	249918	150193064	99057557	224	4692										
C1orf54	79630	broad.mit.edu	37	chr1	150248154	150248154	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctttctcctctgcagatgaCtttagtgcagatttcaccat	6	11	4	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150248154C>A	ENST00000369102.1	+	5	905	c.135C>A	c.(133-135)gaC>gaA	p.D45E	C1orf54_ENST00000369099.3_Missense_Mutation_p.D45E|C1orf54_ENST00000369098.3_Missense_Mutation_p.D45E			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	45						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	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)			CTGCAGATGACTTTAGTGCAG	0.333																																						ENST00000369102.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7						c.(133-135)gaC>gaA		chromosome 1 open reading frame 54							80	76	77					1																	150248154		2203	4300	6503	SO:0001583	missense	79630					extracellular region		g.chr1:150248154C>A	BC017761	CCDS948.1, CCDS72905.1	1q21.2	2012-06-25			ENSG00000118292	ENSG00000118292			26258	protein-coding gene	gene with protein product						12477932	Standard	NM_024579		Approved	FLJ23221	uc001eud.3	Q8WWF1	OTTHUMG00000012546	ENST00000369102.1:c.135C>A	1.37:g.150248154C>A	ENSP00000358098:p.Asp45Glu		Somatic				C1orf54_ENST00000369099.3_Missense_Mutation_p.D45E|C1orf54_ENST00000369098.3_Missense_Mutation_p.D45E	p.D45E			WXS	Illumina GAIIx	Phase_I	Q8WWF1	CA054_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	905	+	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)		45					Q9H5P3	Missense_Mutation	SNP	ENST00000369102.1	37	c.135C>A	CCDS948.1	.	.	.	.	.	.	.	.	.	.	c	8.712	0.912200	0.17907	.	.	ENSG00000118292	ENST00000369102;ENST00000369099;ENST00000369098	.	.	.	3.82	-0.198	0.13224	.	0.251936	0.28268	N	0.015961	T	0.06508	0.0167	N	0.19112	0.55	0.23411	N	0.997732	B;B	0.23540	0.087;0.087	B;B	0.23018	0.043;0.043	T	0.29058	-1.0024	9	0.37606	T	0.19	-5.4236	3.7625	0.08609	0.0:0.4967:0.1843:0.3189	.	45;45	Q5TB16;Q8WWF1	.;CA054_HUMAN	E	45	.	ENSP00000358094:D45E	D	+	3	2	C1orf54	148514778	0.009000	0.17119	0.862000	0.33874	0.929000	0.56500	-0.464000	0.06688	-0.022000	0.13986	-0.215000	0.12644	GAC		0.333	C1orf54-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035055.1	NM_024579		7	15	1	0	0.00307968	1	0.00320271	7	15					A	150248154	C	A	150248154	3	1	48	1	0	0	0	0	1	0	0	0	2048	564	20	5	145	5	C1orf54	1	150248154	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	55090	150248154	99002467	225	4693										
HORMAD1	84072	broad.mit.edu	37	chr1	150672634	150672634	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttccgattttctttggaaGattttactggttgatttcca	7	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150672634G>T	ENST00000361824.2	-	14	1163	c.1058C>A	c.(1057-1059)tCt>tAt	p.S353Y	HORMAD1_ENST00000368995.4_Missense_Mutation_p.S273Y|RNU6-1042P_ENST00000384204.1_RNA|HORMAD1_ENST00000322343.7_Missense_Mutation_p.S346Y|HORMAD1_ENST00000368993.2_Missense_Mutation_p.S353Y	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	353					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTTTGGAAGATTTTACTGG	0.323																																						ENST00000368993.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16						c.(1057-1059)tCt>tAt		HORMA domain containing 1							151	137	141					1																	150672634		2201	4299	6500	SO:0001583	missense	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150672634G>T	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"cancer/testis antigen 46"	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.1058C>A	1.37:g.150672634G>T	ENSP00000355167:p.Ser353Tyr		Somatic				HORMAD1_ENST00000322343.7_Missense_Mutation_p.S346Y|HORMAD1_ENST00000361824.2_Missense_Mutation_p.S353Y|HORMAD1_ENST00000368995.4_Missense_Mutation_p.S273Y	p.S353Y			WXS	Illumina GAIIx	Phase_I	Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		14	1163	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		353					A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	c.1058C>A	CCDS967.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954935	0.34471	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824	T;T;T;T	0.45276	0.9;1.55;1.49;1.55	4.77	1.67	0.24075	.	1.540610	0.03536	N	0.223213	T	0.10937	0.0267	N	0.19112	0.55	0.21802	N	0.99953	P;P;B	0.41569	0.755;0.547;0.412	B;B;B	0.37888	0.26;0.173;0.084	T	0.07271	-1.0781	10	0.27785	T	0.31	-1.7553	5.3487	0.16024	0.1916:0.1669:0.6416:0.0	.	273;346;353	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	Y	273;353;282;273;346;353	ENSP00000357991:S273Y;ENSP00000357989:S353Y;ENSP00000326489:S346Y;ENSP00000355167:S353Y	ENSP00000326489:S346Y	S	-	2	0	HORMAD1	148939258	0.995000	0.38212	0.998000	0.56505	0.910000	0.53928	0.942000	0.29017	0.565000	0.29255	0.460000	0.39030	TCT		0.323	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		12	23	1	0	0.105934	1	0.10725	12	23					T	150672634	G	T	150672634	3	4	48	1	0	0	0	0	1	0	0	0	7295	942	33	2	134	2	HORMAD1	1	150672634	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	424480	150672634	98577987	226	4694										
ANXA9	8416	broad.mit.edu	37	chr1	150959104	150959104	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtgacagctactctggaatCattgactataatctggcaga	9	9	3	3	rs1126954		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150959104C>A	ENST00000368947.4	+	9	1055	c.579C>A	c.(577-579)atC>atA	p.I193I		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	193					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACTCTGGAATCATTGACTATA	0.502																																						ENST00000368947.4																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8						c.(577-579)atC>atA		annexin A9							98	101	100					1																	150959104		2203	4300	6503	SO:0001819	synonymous_variant	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150959104C>A	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"Annexins"	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.579C>A	1.37:g.150959104C>A			Somatic					p.I193I	NM_003568.2	NP_003559.2	WXS	Illumina GAIIx	Phase_I	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		9	1055	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		193					Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Silent	SNP	ENST00000368947.4	37	c.579C>A	CCDS975.2																																																																																				0.502	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568		36	59	1	0	2.40579e-17	1	3.22781e-17	36	59					A	150959104	C	A	150959104	2	1	48	1	0	0	0	0	0	0	0	1	725	816	29	2		2	ANXA9	1	150959104	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	286470	150959104	98291517	227	4695										
FAM63A	55793	broad.mit.edu	37	chr1	150973025	150973025	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcaaaatcagagacgcctgTgaatcgcacattgacatcca	7	12	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150973025T>C	ENST00000361936.5	-	6	1597	c.643A>G	c.(643-645)Aca>Gca	p.T215A	FAM63A_ENST00000312210.5_Missense_Mutation_p.T73A|FAM63A_ENST00000361738.6_Missense_Mutation_p.T263A|FAM63A_ENST00000493834.2_Missense_Mutation_p.T120A|FAM63A_ENST00000470877.1_Intron	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	215						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGACGCCTGTGAATCGCACA	0.483																																						ENST00000361936.5																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(643-645)Aca>Gca		family with sequence similarity 63, member A							120	115	116					1																	150973025		2203	4300	6503	SO:0001583	missense	55793						protein binding	g.chr1:150973025T>C	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.643A>G	1.37:g.150973025T>C	ENSP00000354814:p.Thr215Ala		Somatic				FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000312210.5_Missense_Mutation_p.T73A|FAM63A_ENST00000493834.2_Missense_Mutation_p.T120A|FAM63A_ENST00000361738.6_Missense_Mutation_p.T263A	p.T215A	NM_018379.4	NP_060849.2	WXS	Illumina GAIIx	Phase_I	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	1597	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		215					B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	ENST00000361936.5	37	c.643A>G	CCDS976.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.632789	0.87660	.	.	ENSG00000143409	ENST00000312210;ENST00000361936;ENST00000361738;ENST00000493834	T;T;T;T	0.50001	0.79;0.8;0.76;0.85	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.70787	2.145	0.58432	D	0.999999	B;D	0.63880	0.34;0.993	B;D	0.71656	0.34;0.974	T	0.57010	-0.7884	10	0.38643	T	0.18	-10.4338	12.3127	0.54938	0.0:0.0:0.0:1.0	.	263;215	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	A	73;215;263;120	ENSP00000310923:T73A;ENSP00000354814:T215A;ENSP00000354669:T263A;ENSP00000437174:T120A	ENSP00000310923:T73A	T	-	1	0	FAM63A	149239649	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.776000	0.85560	2.002000	0.58637	0.460000	0.39030	ACA		0.483	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379		37	64	0	0	0	1	0	37	64					C	150973025	T	C	150973025	3	2	48	1	0	0	0	0	1	0	0	0	5604	1696	59	4	790	4	FAM63A	1	150973025	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	13921	150973025	98277596	228	4696										
SEMA6C	10500	broad.mit.edu	37	chr1	151108986	151108986	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccatccagactcctctgctcCttgaacttgccctcaaaccc	4	19	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:151108986C>A	ENST00000341697.3	-	12	2735	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	348	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTCTGCTCCTTGAACTTGC	0.567																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(1042-1044)aaG>aaT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							133	136	135					1																	151108986		2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151108986C>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1044G>T	1.37:g.151108986C>A	ENSP00000344148:p.Lys348Asn		Somatic					p.K348N			WXS	Illumina GAIIx	Phase_I	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		12	2735	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		348			Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.1044G>T	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735067	0.69189	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	4.71	4.71	0.59529	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	H	0.95004	3.61	0.50171	D	0.999859	D;D;D;D	0.89917	0.997;0.996;0.997;1.0	D;D;D;D	0.87578	0.913;0.99;0.938;0.998	T	0.57510	-0.7799	10	0.72032	D	0.01	.	15.1894	0.73032	0.0:1.0:0.0:0.0	.	348;308;348;348	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	N	348;308;348;348;348	ENSP00000357910:K348N;ENSP00000357908:K308N;ENSP00000357909:K348N;ENSP00000344148:K348N	ENSP00000344148:K348N	K	-	3	2	SEMA6C	149375610	0.958000	0.32768	1.000000	0.80357	0.994000	0.84299	0.080000	0.14802	2.444000	0.82710	0.491000	0.48974	AAG		0.567	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		77	145	1	0	5.02462e-34	1	7.21672e-34	77	145					A	151108986	C	A	151108986	3	1	48	1	0	0	0	0	1	0	0	0	14056	680	24	5	1880	5	SEMA6C	1	151108986	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	135961	151108986	98141635	229	4697										
VPS72	6944	broad.mit.edu	37	chr1	151158378	151158378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcaaagtcagagtccacttCgtcctctgtgtctgactggt	10	11	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:151158378C>T	ENST00000354473.4	-	2	202	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	56	Asp/Glu-rich (acidic).				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	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)			GAGTCCACTTCGTCCTCTGTG	0.517																																					Pancreas(109;1131 2287 3209 24201)	ENST00000354473.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(166-168)Gaa>Aaa		vacuolar protein sorting 72 homolog (S. cerevisiae)							141	124	130					1																	151158378		2203	4300	6503	SO:0001583	missense	6944				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:151158378C>T	D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"transcription factor-like 1", "vacuolar protein sorting 72 (yeast)"	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.166G>A	1.37:g.151158378C>T	ENSP00000346464:p.Glu56Lys		Somatic				VPS72_ENST00000496809.1_5'UTR	p.E56K	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	WXS	Illumina GAIIx	Phase_I	Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		2	202	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		56			Asp/Glu-rich (acidic).		A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Missense_Mutation	SNP	ENST00000354473.4	37	c.166G>A	CCDS59201.1	.	.	.	.	.	.	.	.	.	.	C	34	5.371246	0.95923	.	.	ENSG00000163159	ENST00000368892;ENST00000354473	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	M	0.78223	2.4	0.80722	D	1	D	0.67145	0.996	P	0.60682	0.878	T	0.66272	-0.5965	9	0.07644	T	0.81	-10.4752	18.4824	0.90817	0.0:1.0:0.0:0.0	.	56	Q15906	VPS72_HUMAN	K	56	.	ENSP00000346464:E56K	E	-	1	0	VPS72	149425002	1.000000	0.71417	0.996000	0.52242	0.640000	0.38277	7.376000	0.79658	2.691000	0.91804	0.561000	0.74099	GAA		0.517	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000034394.3	NM_005997		17	57	0	0	0	1	0	17	57					T	151158378	C	T	151158378	3	4	48	1	0	0	0	0	1	0	0	0	17232	893	31	1	948	1	VPS72	1	151158378	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	49392	151158378	98092243	230	4698										
SNX27	81609	broad.mit.edu	37	chr1	151611416	151611416	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcaggtggtggacctgattCgagcaggcgagaaggaattg	17	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:151611416C>T	ENST00000458013.2	+	2	484	c.364C>T	c.(364-366)Cga>Tga	p.R122*	SNX27_ENST00000368838.1_Nonsense_Mutation_p.R29*|SNX27_ENST00000368843.3_Nonsense_Mutation_p.R122*			Q96L92	SNX27_HUMAN	sorting nexin family member 27	122	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGACCTGATTCGAGCAGGCGA	0.483																																					Colon(46;291 966 40145 41237 41888)	ENST00000368843.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.(364-366)Cga>Tga		sorting nexin family member 27							136	118	124					1																	151611416		2203	4300	6503	SO:0001587	stop_gained	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151611416C>T	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.364C>T	1.37:g.151611416C>T	ENSP00000400333:p.Arg122*		Somatic				SNX27_ENST00000368838.1_Nonsense_Mutation_p.R29*|SNX27_ENST00000458013.2_Nonsense_Mutation_p.R122*	p.R122*	NM_030918.5	NP_112180.4	WXS	Illumina GAIIx	Phase_I	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	484	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		122			PDZ.		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Nonsense_Mutation	SNP	ENST00000458013.2	37	c.364C>T		.	.	.	.	.	.	.	.	.	.	C	38	7.002976	0.97994	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	.	.	.	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	15.4734	0.75458	0.0:1.0:0.0:0.0	.	.	.	.	X	122;122;29	.	ENSP00000357831:R29X	R	+	1	2	SNX27	149878040	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.438000	0.66550	2.297000	0.77311	0.591000	0.81541	CGA		0.483	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		27	36	0	0	0	1	0	27	36					T	151611416	C	T	151611416	4	4	48	1	0	0	0	0	0	1	0	0	14912	876	31	1	370	1	SNX27	1	151611416	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	453038	151611416	97639205	231	4699										
SNX27	81609	broad.mit.edu	37	chr1	151633298	151633298	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcaatacgagtaattggtgAgagtgacatcatgcaggaat	11	5	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:151633298A>C	ENST00000458013.2	+	4	881	c.761A>C	c.(760-762)gAg>gCg	p.E254A	SNX27_ENST00000368838.1_Missense_Mutation_p.E161A|SNX27_ENST00000368843.3_Missense_Mutation_p.E254A			Q96L92	SNX27_HUMAN	sorting nexin family member 27	254	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTAATTGGTGAGAGTGACATC	0.348																																					Colon(46;291 966 40145 41237 41888)	ENST00000368843.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.(760-762)gAg>gCg		sorting nexin family member 27							208	204	205					1																	151633298		2203	4300	6503	SO:0001583	missense	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151633298A>C	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.761A>C	1.37:g.151633298A>C	ENSP00000400333:p.Glu254Ala		Somatic				SNX27_ENST00000368838.1_Missense_Mutation_p.E161A|SNX27_ENST00000458013.2_Missense_Mutation_p.E254A	p.E254A	NM_030918.5	NP_112180.4	WXS	Illumina GAIIx	Phase_I	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		4	881	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		254			PX.		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37	c.761A>C		.	.	.	.	.	.	.	.	.	.	A	24.9	4.579868	0.86645	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.39787	1.06;1.06;1.06	5.3	5.3	0.74995	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	M	0.76433	2.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.983	T	0.56245	-0.8011	10	0.40728	T	0.16	.	14.2151	0.65788	1.0:0.0:0.0:0.0	.	254;254	Q96L92;Q96L92-3	SNX27_HUMAN;.	A	254;254;161	ENSP00000400333:E254A;ENSP00000357836:E254A;ENSP00000357831:E161A	ENSP00000357831:E161A	E	+	2	0	SNX27	149899922	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.451000	0.90343	2.228000	0.72767	0.528000	0.53228	GAG		0.348	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		9	50	0	0	0	1	0	9	50					C	151633298	A	C	151633298	3	2	48	1	0	0	0	0	1	0	0	0	14912	304	11	4	775	4	SNX27	1	151633298	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	21882	151633298	97617323	232	4700										
TCHHL1	126637	broad.mit.edu	37	chr1	152057988	152057988	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggctgaattgtcctcatctaGactttctaacagagtattct	7	9	4	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152057988G>A	ENST00000368806.1	-	3	2234	c.2170C>T	c.(2170-2172)Cta>Tta	p.L724L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	724							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)			TCCTCATCTAGACTTTCTAAC	0.448																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(2170-2172)Cta>Tta		trichohyalin-like 1							157	162	160					1																	152057988		2203	4300	6503	SO:0001819	synonymous_variant	126637						calcium ion binding	g.chr1:152057988G>A		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.2170C>T	1.37:g.152057988G>A			Somatic					p.L724L	NM_001008536.1	NP_001008536.1	WXS	Illumina GAIIx	Phase_I	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2234	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		724					B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	c.2170C>T	CCDS30857.1																																																																																				0.448	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		28	70	0	0	0	1	0	28	70					A	152057988	G	A	152057988	2	1	48	1	0	0	0	0	0	0	0	1	15716	933	33	3		3	TCHHL1	1	152057988	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	424690	152057988	97192633	233	4701										
TCHH	7062	broad.mit.edu	37	chr1	152085512	152085512	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccattactgtcaagatccaGaagttccaggatcagatcta	7	11	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152085512G>T	ENST00000368804.1	-	2	180	c.181C>A	c.(181-183)Ctg>Atg	p.L61M		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	61	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like.				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)			TCAAGATCCAGAAGTTCCAGG	0.408																																						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.(181-183)Ctg>Atg		trichohyalin							44	43	43					1																	152085512		1870	4119	5989	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152085512G>T	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.181C>A	1.37:g.152085512G>T	ENSP00000357794:p.Leu61Met		Somatic					p.L61M	NM_007113.2	NP_009044.2	WXS	Illumina GAIIx	Phase_I	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	180	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		61			EF-hand 2.|S-100-like.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.181C>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	13.10	2.136581	0.37728	.	.	ENSG00000159450	ENST00000368804	T	0.16196	2.36	4.58	4.58	0.56647	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	.	.	.	.	T	0.40015	0.1100	M	0.91972	3.26	0.29309	N	0.868127	D	0.89917	1.0	D	0.91635	0.999	T	0.35325	-0.9793	9	0.87932	D	0	-19.56	13.0828	0.59123	0.0:0.0:1.0:0.0	.	61	Q07283	TRHY_HUMAN	M	61	ENSP00000357794:L61M	ENSP00000357794:L61M	L	-	1	2	TCHH	150352136	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	3.832000	0.55783	2.532000	0.85374	0.450000	0.29827	CTG		0.408	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		16	24	1	0	2.23348e-06	1	2.50077e-06	16	24					T	152085512	G	T	152085512	3	4	48	1	0	0	0	0	1	0	0	0	15715	933	33	2	5654	2	TCHH	1	152085512	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	27524	152085512	97165109	234	4702										
TCHH	7062	broad.mit.edu	37	chr1	152086435	152086435	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttacccgaagcacagctccaAattccctttcaaggaggttc	7	13	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152086435A>C	ENST00000368804.1	-	1	121	c.122T>G	c.(121-123)tTt>tGt	p.F41C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	41	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like.				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)			CACAGCTCCAAATTCCCTTTC	0.403																																						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.(121-123)tTt>tGt		trichohyalin							171	156	160					1																	152086435		1871	4108	5979	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152086435A>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.122T>G	1.37:g.152086435A>C	ENSP00000357794:p.Phe41Cys		Somatic					p.F41C	NM_007113.2	NP_009044.2	WXS	Illumina GAIIx	Phase_I	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	121	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		41			EF-hand 1.|S-100-like.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.122T>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.876640	0.33162	.	.	ENSG00000159450	ENST00000368804	T	0.11930	2.73	4.93	4.93	0.64822	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.27798	0.0684	M	0.84219	2.685	0.25929	N	0.983013	D	0.89917	1.0	D	0.91635	0.999	T	0.11891	-1.0569	9	0.87932	D	0	-1.1531	11.1563	0.48489	1.0:0.0:0.0:0.0	.	41	Q07283	TRHY_HUMAN	C	41	ENSP00000357794:F41C	ENSP00000357794:F41C	F	-	2	0	TCHH	150353059	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	4.842000	0.62831	2.199000	0.70637	0.455000	0.32223	TTT		0.403	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		9	54	0	0	0	1	0	9	54					C	152086435	A	C	152086435	3	2	48	1	0	0	0	0	1	0	0	0	15715	14	1	4	5717	4	TCHH	1	152086435	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	923	152086435	97164186	235	4703										
HRNR	388697	broad.mit.edu	37	chr1	152193031	152193031	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccatgcttactatagccagaGgactgtcctgagccagactc	9	13	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152193031G>T	ENST00000368801.2	-	3	1149	c.1074C>A	c.(1072-1074)tcC>tcA	p.S358S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	358					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)			TATAGCCAGAGGACTGTCCTG	0.547																																						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.(1072-1074)tcC>tcA		hornerin							141	139	139					1																	152193031		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193031G>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.1074C>A	1.37:g.152193031G>T			Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S358S	NM_001009931.1	NP_001009931.1	WXS	Illumina GAIIx	Phase_I	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1149	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		358					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.1074C>A	CCDS30859.1																																																																																				0.547	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		53	139	1	0	7.77372e-23	1	1.08358e-22	53	139					T	152193031	G	T	152193031	2	4	48	1	0	0	0	0	0	0	0	1	7368	987	35	5		5	HRNR	1	152193031	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	106596	152193031	97057590	236	4704										
FLG	2312	broad.mit.edu	37	chr1	152275493	152275493	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtgccctcagattgataatGataagaactagaactgtgag	10	6	1	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152275493G>T	ENST00000368799.1	-	3	11904	c.11869C>A	c.(11869-11871)Cat>Aat	p.H3957N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3957					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)			GATTGATAATGATAAGAACTA	0.428									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.(11869-11871)Cat>Aat		filaggrin							144	134	137					1																	152275493		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.chr1:152275493G>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.11869C>A	1.37:g.152275493G>T	ENSP00000357789:p.His3957Asn		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.H3957N	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11904	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3957					Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11869C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	0.289	-0.981210	0.02197	.	.	ENSG00000143631	ENST00000368799	T	0.01159	5.25	3.05	-6.1	0.02138	.	.	.	.	.	T	0.00109	0.0003	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40496	-0.9560	9	0.14656	T	0.56	.	2.2533	0.04049	0.2143:0.2043:0.4389:0.1426	.	3957	P20930	FILA_HUMAN	N	3957	ENSP00000357789:H3957N	ENSP00000357789:H3957N	H	-	1	0	FLG	150542117	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.971000	0.03806	-3.162000	0.00227	-2.207000	0.00302	CAT		0.428	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		38	50	1	0	6.70999e-13	1	8.51699e-13	38	50					T	152275493	G	T	152275493	3	4	48	1	0	0	0	0	1	0	0	0	5930	1290	45	2	320	2	FLG	1	152275493	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	82462	152275493	96975128	237	4705										
FLG	2312	broad.mit.edu	37	chr1	152283914	152283914	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagtgcctggagctgtctcGtgcctgctcgtggtgggatc	16	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152283914G>A	ENST00000368799.1	-	3	3483	c.3448C>T	c.(3448-3450)Cga>Tga	p.R1150*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1150	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTGTCTCGTGCCTGCTCG	0.597									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3448-3450)Cga>Tga		filaggrin							195	235	221					1																	152283914		2203	4296	6499	SO:0001587	stop_gained	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.chr1:152283914G>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.3448C>T	1.37:g.152283914G>A	ENSP00000357789:p.Arg1150*		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R1150*	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3483	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1150			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.3448C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	37	6.443577	0.97572	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.05	-6.11	0.02131	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	1.8586	0.03184	0.1111:0.3099:0.282:0.2969	.	.	.	.	X	1150	.	ENSP00000357789:R1150X	R	-	1	2	FLG	150550538	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-8.221000	0.00023	-1.998000	0.00968	0.186000	0.17326	CGA		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	488	0	0	0	1	0	7	488					A	152283914	G	A	152283914	4	1	48	1	0	0	0	0	0	1	0	0	5930	1153	40	1	8741	1	FLG	1	152283914	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	8421	152283914	96966707	238	4706										
FLG2	388698	broad.mit.edu	37	chr1	152329831	152329831	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagttccccttgagtgcccaGaactatatccatgctcctct	6	15	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152329831G>T	ENST00000388718.5	-	3	503	c.431C>A	c.(430-432)tCt>tAt	p.S144Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	144	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)			TGAGTGCCCAGAACTATATCC	0.463																																						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.(430-432)tCt>tAt		filaggrin family member 2							238	234	235					1																	152329831		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152329831G>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.431C>A	1.37:g.152329831G>T	ENSP00000373370:p.Ser144Tyr		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S144Y	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	503	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		144			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.431C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179360	0.38511	.	.	ENSG00000143520	ENST00000388718	T	0.00760	5.73	5.62	4.71	0.59529	.	.	.	.	.	T	0.01287	0.0042	M	0.61703	1.905	0.27393	N	0.955087	D	0.69078	0.997	D	0.66847	0.947	T	0.49011	-0.8983	9	0.59425	D	0.04	-8.4261	10.2724	0.43491	0.0906:0.0:0.9094:0.0	.	144	Q5D862	FILA2_HUMAN	Y	144	ENSP00000373370:S144Y	ENSP00000373370:S144Y	S	-	2	0	FLG2	150596455	0.457000	0.25752	0.976000	0.42696	0.768000	0.43524	2.120000	0.41968	1.388000	0.46506	0.557000	0.71058	TCT		0.463	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		53	108	1	0	6.56871e-35	1	9.43686e-35	53	108					T	152329831	G	T	152329831	3	4	48	1	0	0	0	0	1	0	0	0	5931	942	33	2	6748	2	FLG2	1	152329831	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	45917	152329831	96920790	239	4707										
KPRP	448834	broad.mit.edu	37	chr1	152733586	152733586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctggggcccaaatccagttCcatacccaggagacctaggc	11	14	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152733586C>A	ENST00000606109.1	+	1	1550	c.1522C>A	c.(1522-1524)Cca>Aca	p.P508T	KPRP_ENST00000368773.1_Missense_Mutation_p.P508T			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	508	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)			AAATCCAGTTCCATACCCAGG	0.632																																						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.(1522-1524)Cca>Aca		keratinocyte proline-rich protein							50	53	52					1																	152733586		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733586C>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.1522C>A	1.37:g.152733586C>A	ENSP00000475216:p.Pro508Thr		Somatic				KPRP_ENST00000606109.1_Missense_Mutation_p.P508T	p.P508T	NM_001025231.1	NP_001020402.1	WXS	Illumina GAIIx	Phase_I	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1580	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		508			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1522C>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694584	0.48202	.	.	ENSG00000203786	ENST00000368773	T	0.29655	1.56	4.61	1.71	0.24356	.	0.490229	0.17471	N	0.173092	T	0.21718	0.0523	L	0.52573	1.65	0.09310	N	1	D	0.59357	0.985	P	0.55824	0.785	T	0.04128	-1.0975	10	0.62326	D	0.03	-0.7164	6.5107	0.22220	0.0:0.6065:0.0:0.3935	.	508	Q5T749	KPRP_HUMAN	T	508	ENSP00000357762:P508T	ENSP00000357762:P508T	P	+	1	0	KPRP	151000210	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	0.986000	0.29590	0.285000	0.22329	0.462000	0.41574	CCA		0.632	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		28	60	1	0	2.41591e-17	1	3.2383e-17	28	60					A	152733586	C	A	152733586	3	1	48	1	0	0	0	0	1	0	0	0	8445	855	30	2	1524	2	KPRP	1	152733586	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	403755	152733586	96517035	240	4708										
LCE1E	353135	broad.mit.edu	37	chr1	152759805	152759805	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagcagagccagcagcagtgCcagccccctcccaagtgcac	10	18	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152759805C>T	ENST00000368770.3	+	2	83	c.30C>T	c.(28-30)tgC>tgT	p.C10C	LCE1E_ENST00000368771.1_Silent_p.C10C	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	10	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCAGCAGTGCCAGCCCCctc	0.597																																						ENST00000368770.3																			0				lung(5)|stomach(1)	6						c.(28-30)tgC>tgT		late cornified envelope 1E							112	120	117					1																	152759805		2203	4300	6503	SO:0001819	synonymous_variant	353135				keratinization			g.chr1:152759805C>T	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"Late cornified envelopes"	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.30C>T	1.37:g.152759805C>T			Somatic				LCE1E_ENST00000368771.1_Silent_p.C10C	p.C10C	NM_178353.1	NP_848130.1	WXS	Illumina GAIIx	Phase_I	Q5T753	LCE1E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	83	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		10			Cys-rich.		D3DV30	Silent	SNP	ENST00000368770.3	37	c.30C>T	CCDS1024.1																																																																																				0.597	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1	NM_178353		6	229	0	0	0	1	0	6	229					T	152759805	C	T	152759805	2	4	48	1	0	0	0	0	0	0	0	1	8672	747	26	3		3	LCE1E	1	152759805	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	26219	152759805	96490816	241	4709										
SPRR2D	6703	broad.mit.edu	37	chr1	153012694	153012694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cactgctgaggtgggcagggCtgtggacactttggtgatgg	18	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:153012694C>T	ENST00000368757.1	-	2	409	c.129G>A	c.(127-129)caG>caA	p.Q43Q	SPRR2D_ENST00000368758.3_Silent_p.Q43Q|SPRR2D_ENST00000368756.1_Silent_p.Q43Q|SPRR2D_ENST00000360379.3_Silent_p.Q43Q			P22532	SPR2D_HUMAN	small proline-rich protein 2D	43	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGGGCAGGGCTGTGGACACT	0.617																																						ENST00000368757.1																			0				endometrium(1)|skin(1)	2						c.(127-129)caG>caA		small proline-rich protein 2D							177	156	163					1																	153012694		2203	4297	6500	SO:0001819	synonymous_variant	6703				keratinization	cornified envelope|cytoplasm		g.chr1:153012694C>T	AF333954	CCDS30864.1	1q21-q22	2008-02-05			ENSG00000163216	ENSG00000163216			11264	protein-coding gene	gene with protein product						8325635	Standard	NM_006945		Approved		uc001fbb.2	P22532	OTTHUMG00000014396	ENST00000368757.1:c.129G>A	1.37:g.153012694C>T			Somatic				SPRR2D_ENST00000368756.1_Silent_p.Q43Q|SPRR2D_ENST00000368758.3_Silent_p.Q43Q|SPRR2D_ENST00000360379.3_Silent_p.Q43Q	p.Q43Q			WXS	Illumina GAIIx	Phase_I	P22532	SPR2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	409	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		43			3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].		A4QN03|A8K5K2|D3DV33|Q5T523|Q96RM3	Silent	SNP	ENST00000368757.1	37	c.129G>A	CCDS30864.1																																																																																				0.617	SPRR2D-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040051.1			25	176	0	0	0	1	0	25	176					T	153012694	C	T	153012694	2	4	48	1	0	0	0	0	0	0	0	1	15114	796	28	3		3	SPRR2D	1	153012694	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	252889	153012694	96237927	242	4710										
SNAPIN	23557	broad.mit.edu	37	chr1	153632005	153632005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctacttaatgcccggcgacGcgttgtcttggttaacaaca	10	11	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:153632005G>A	ENST00000368685.5	+	3	362	c.272G>A	c.(271-273)cGc>cAc	p.R91H	SNAPIN_ENST00000478558.1_3'UTR|ILF2_ENST00000480213.1_5'Flank	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	91	Interaction with TOR1A.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|negative regulation of neuron projection development (GO:0010977)|neuron projection development (GO:0031175)|neurotransmitter secretion (GO:0007269)|positive regulation of late endosome to lysosome transport (GO:1902824)|regulation of protein binding (GO:0043393)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle fusion to presynaptic membrane (GO:0031629)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle transport (GO:0048489)|terminal button organization (GO:0072553)|viral process (GO:0016032)	BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)	p.R91L(1)		lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCGGCGACGCGTTGTCTTG	0.443																																						ENST00000368685.5																			1	Substitution - Missense(1)	p.R91L(1)	lung(1)	lung(3)	3						c.(271-273)cGc>cAc		SNAP-associated protein							129	129	129					1																	153632005		2203	4300	6503	SO:0001583	missense	23557				intracellular protein transport|synaptic vesicle exocytosis	BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome	SNARE binding	g.chr1:153632005G>A	AF086837	CCDS1049.1	1q22	2013-09-27		2007-11-14	ENSG00000143553	ENSG00000143553		"Biogenesis of lysosomal organelles complex-1 subunits"	17145	protein-coding gene	gene with protein product	"snapin", "SNAP-25-binding protein", "biogenesis of lysosomal organelles complex-1, subunit 7"	607007		SNAPAP		10195194, 12659861	Standard	NM_012437		Approved	BLOC1S7	uc001fcq.4	O95295	OTTHUMG00000037086	ENST00000368685.5:c.272G>A	1.37:g.153632005G>A	ENSP00000357674:p.Arg91His		Somatic				SNAPIN_ENST00000478558.1_3'UTR	p.R91H	NM_012437.5	NP_036569.1	WXS	Illumina GAIIx	Phase_I	O95295	SNAPN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	362	+	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		91					D3DV56|Q5SXU8	Missense_Mutation	SNP	ENST00000368685.5	37	c.272G>A	CCDS1049.1	.	.	.	.	.	.	.	.	.	.	G	35	5.571320	0.96553	.	.	ENSG00000143553	ENST00000368685	T	0.58210	0.35	5.65	5.65	0.86999	.	0.055326	0.64402	D	0.000001	T	0.63640	0.2528	M	0.74881	2.28	0.49213	D	0.999765	D	0.71674	0.998	P	0.58077	0.832	T	0.66143	-0.5997	10	0.72032	D	0.01	-13.2129	17.2626	0.87075	0.0:0.0:1.0:0.0	.	91	O95295	SNAPN_HUMAN	H	91	ENSP00000357674:R91H	ENSP00000357674:R91H	R	+	2	0	SNAPIN	151898629	1.000000	0.71417	0.289000	0.24876	0.921000	0.55340	8.802000	0.91910	2.941000	0.99782	0.655000	0.94253	CGC		0.443	SNAPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090036.1	NM_012437		26	47	0	0	0	1	0	26	47					A	153632005	G	A	153632005	3	1	48	1	0	0	0	0	1	0	0	0	14854	1087	38	1	282	1	SNAPIN	1	153632005	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	619311	153632005	95618616	243	4711										
NUP210L	91181	broad.mit.edu	37	chr1	154098814	154098814	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctacctggtaaatgatggaGgtcagggatgcatttattac	11	7	1	1	rs368439825	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:154098814G>T	ENST00000368559.3	-	10	1382	c.1311C>A	c.(1309-1311)acC>acA	p.T437T	NUP210L_ENST00000271854.3_Silent_p.T437T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	437					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)			AAATGATGGAGGTCAGGGATG	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.(1309-1311)acC>acA		nucleoporin 210kDa-like							170	151	157					1																	154098814		1897	4118	6015	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154098814G>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.1311C>A	1.37:g.154098814G>T			Somatic				NUP210L_ENST00000271854.3_Silent_p.T437T	p.T437T	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)		10	1382	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		437					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.1311C>A	CCDS41399.1																																																																																				0.393	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		21	64	1	0	7.45023e-12	1	9.31775e-12	21	64					T	154098814	G	T	154098814	2	4	48	1	0	0	0	0	0	0	0	1	10770	987	35	5		5	NUP210L	1	154098814	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	466809	154098814	95151807	244	4712										
KCNN3	3782	broad.mit.edu	37	chr1	154841560	154841560	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctatcaccataacaacaattCcaaacatcccaaaaatcaga	1	13	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:154841560C>A	ENST00000271915.4	-	1	1196	c.881G>T	c.(880-882)gGa>gTa	p.G294V	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	299					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)	AACAACAATTCCAAACATCCC	0.433																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(880-882)gGa>gTa		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							158	151	153					1																	154841560		2203	4300	6503	SO:0001583	missense	3782					integral to membrane	calmodulin binding	g.chr1:154841560C>A	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.881G>T	1.37:g.154841560C>A	ENSP00000271915:p.Gly294Val		Somatic					p.G294V	NM_002249.5	NP_002240.3	WXS	Illumina GAIIx	Phase_I	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	1196	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		299					B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	c.881G>T	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719136	0.68844	.	.	ENSG00000143603	ENST00000271915	D	0.98958	-5.27	4.88	4.88	0.63580	Potassium channel, calcium-activated, SK, conserved region (1);	0.000000	0.46442	D	0.000295	D	0.99309	0.9758	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	0.98985	1.0806	10	0.87932	D	0	-5.0461	15.5798	0.76425	0.0:1.0:0.0:0.0	.	300;299	Q6JXY2;Q9UGI6	.;KCNN3_HUMAN	V	294	ENSP00000271915:G294V	ENSP00000271915:G294V	G	-	2	0	KCNN3	153108184	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.464000	0.80887	2.530000	0.85305	0.655000	0.94253	GGA		0.433	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		39	100	1	0	6.33695e-27	1	8.97322e-27	39	100					A	154841560	C	A	154841560	3	1	48	1	0	0	0	0	1	0	0	0	8089	855	30	2	1368	2	KCNN3	1	154841560	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	742746	154841560	94409061	245	4713										
ADAM15	8751	broad.mit.edu	37	chr1	155023920	155023920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcgcgggcagccctctgcctTcctggccgctcccaaatata	10	17	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:155023920T>C	ENST00000356955.2	+	1	159	c.58T>C	c.(58-60)Tcc>Ccc	p.S20P	ADAM15_ENST00000368413.1_Missense_Mutation_p.S20P|ADAM15_ENST00000449910.2_Missense_Mutation_p.S20P|ADAM15_ENST00000271836.6_Missense_Mutation_p.S20P|ADAM15_ENST00000368410.2_Missense_Mutation_p.S20P|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000359280.4_Missense_Mutation_p.S20P|ADAM15_ENST00000368412.3_Missense_Mutation_p.S20P|ADAM15_ENST00000447332.3_Missense_Mutation_p.S20P|ADAM15_ENST00000360674.4_Missense_Mutation_p.S20P|ADAM15_ENST00000355956.2_Missense_Mutation_p.S20P|ADAM15_ENST00000531455.1_Missense_Mutation_p.S20P	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	20					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCCTCTGCCTTCCTGGCCGCT	0.701																																						ENST00000356955.2																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39						c.(58-60)Tcc>Ccc		ADAM metallopeptidase domain 15							5	7	6					1																	155023920		2121	4198	6319	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155023920T>C	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.58T>C	1.37:g.155023920T>C	ENSP00000349436:p.Ser20Pro		Somatic				ADAM15_ENST00000368413.1_Missense_Mutation_p.S20P|ADAM15_ENST00000531455.1_Missense_Mutation_p.S20P|ADAM15_ENST00000368412.3_Missense_Mutation_p.S20P|ADAM15_ENST00000447332.3_Missense_Mutation_p.S20P|ADAM15_ENST00000359280.4_Missense_Mutation_p.S20P|ADAM15_ENST00000368410.2_Missense_Mutation_p.S20P|ADAM15_ENST00000271836.6_Missense_Mutation_p.S20P|ADAM15_ENST00000360674.4_Missense_Mutation_p.S20P|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Missense_Mutation_p.S20P|ADAM15_ENST00000449910.2_Missense_Mutation_p.S20P	p.S20P	NM_207197.2	NP_997080.1	WXS	Illumina GAIIx	Phase_I	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		1	159	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		20					B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.58T>C	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.208827	0.58343	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.03441	5.66;5.65;5.65;5.56;5.46;5.66;3.93;5.63;3.94;5.69	4.56	4.56	0.56223	.	0.000000	0.37955	N	0.001874	T	0.03871	0.0109	L	0.27053	0.805	0.22581	N	0.998967	D;D;D;D;D;D;D;D;D;D	0.76494	0.998;0.998;0.998;0.999;0.999;0.999;0.999;0.999;0.999;0.998	D;D;D;D;D;D;D;D;D;D	0.80764	0.987;0.987;0.987;0.994;0.994;0.994;0.994;0.994;0.994;0.987	T	0.34850	-0.9812	10	0.54805	T	0.06	.	10.2863	0.43568	0.0:0.0:0.0:1.0	.	20;20;20;20;20;20;20;20;20;20	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	P	20	ENSP00000349436:S20P;ENSP00000403843:S20P;ENSP00000352226:S20P;ENSP00000353892:S20P;ENSP00000357397:S20P;ENSP00000348227:S20P;ENSP00000357395:S20P;ENSP00000271836:S20P;ENSP00000357398:S20P;ENSP00000432927:S20P	ENSP00000271836:S20P	S	+	1	0	ADAM15	153290544	0.479000	0.25925	0.995000	0.50966	0.544000	0.35116	1.291000	0.33330	1.700000	0.51204	0.260000	0.18958	TCC		0.701	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		5	7	0	0	0	1	0	5	7					C	155023920	T	C	155023920	3	2	48	1	0	0	0	0	1	0	0	0	237	1783	62	4	60	4	ADAM15	1	155023920	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	182360	155023920	94226701	246	4714										
HCN3	57657	broad.mit.edu	37	chr1	155252476	155252476	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctcttctatccctgtggatTacatcttcctagtggtggag	9	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:155252476T>G	ENST00000368358.3	+	2	561	c.553T>G	c.(553-555)Tac>Gac	p.Y185D	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	185					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)			CCCTGTGGATTACATCTTCCT	0.597																																						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.(553-555)Tac>Gac		hyperpolarization activated cyclic nucleotide-gated potassium channel 3							87	79	82					1																	155252476		2203	4300	6503	SO:0001583	missense	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155252476T>G	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.553T>G	1.37:g.155252476T>G	ENSP00000357342:p.Tyr185Asp		Somatic				HCN3_ENST00000496230.1_3'UTR	p.Y185D	NM_020897.1	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)		2	561	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		185					D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	c.553T>G	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.477894	0.84747	.	.	ENSG00000143630	ENST00000368358	D	0.94330	-3.4	4.97	4.97	0.65823	Ion transport (1);	0.000000	0.45606	D	0.000354	D	0.94321	0.8175	M	0.80746	2.51	0.80722	D	1	P	0.42649	0.786	P	0.52031	0.688	D	0.95198	0.8314	10	0.87932	D	0	.	12.9252	0.58257	0.0:0.0:0.0:1.0	.	185	Q9P1Z3	HCN3_HUMAN	D	185	ENSP00000357342:Y185D	ENSP00000357342:Y185D	Y	+	1	0	HCN3	153519100	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.789000	0.85783	2.216000	0.71823	0.482000	0.46254	TAC		0.597	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		22	54	0	0	0	1	0	22	54					G	155252476	T	G	155252476	3	3	48	1	0	0	0	0	1	0	0	0	7007	1754	61	4	559	4	HCN3	1	155252476	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	228556	155252476	93998145	247	4715										
SMG5	23381	broad.mit.edu	37	chr1	156222291	156222291	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcagcaaatccaggccatcGatcactggtgggcaaggtag	12	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156222291G>A	ENST00000361813.5	-	19	2811	c.2667C>T	c.(2665-2667)atC>atT	p.I889I	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	889	PINc.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCAGGCCATCGATCACTGGTG	0.527																																						ENST00000361813.5																			0				NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48						c.(2665-2667)atC>atT		SMG5 nonsense mediated mRNA decay factor							53	51	52					1																	156222291		2203	4300	6503	SO:0001819	synonymous_variant	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156222291G>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"EST1 telomerase component homolog B (S. cerevisiae)"	610962	"smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2667C>T	1.37:g.156222291G>A			Somatic				SMG5_ENST00000368267.4_Intron	p.I889I	NM_015327.2	NP_056142.2	WXS	Illumina GAIIx	Phase_I	Q9UPR3	SMG5_HUMAN			19	2811	-	Hepatocellular(266;0.158)		889			PINc.		D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	c.2667C>T	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	G	8.655	0.899171	0.17686	.	.	ENSG00000198952	ENST00000420555	.	.	.	4.43	-5.7	0.02421	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-26.976	6.5625	0.22493	0.5459:0.0:0.2471:0.207	.	.	.	.	X	11	.	.	R	-	1	2	SMG5	154488915	0.000000	0.05858	0.773000	0.31616	0.900000	0.52787	-2.045000	0.01410	-1.287000	0.02381	-0.672000	0.03802	CGA		0.527	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		15	28	0	0	0	1	0	15	28					A	156222291	G	A	156222291	2	1	48	1	0	0	0	0	0	0	0	1	14811	1048	37	1		1	SMG5	1	156222291	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	969815	156222291	93028330	248	4716										
GPATCH4	54865	broad.mit.edu	37	chr1	156565382	156565382	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacctttccttcttgatgtcGccttttcttcttcttgcttt	5	12	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156565382G>A	ENST00000438976.2	-	8	781	c.751C>T	c.(751-753)Cga>Tga	p.R251*	GPATCH4_ENST00000368232.4_Nonsense_Mutation_p.R246*|GPATCH4_ENST00000497287.1_5'Flank			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	246							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)					TCTTGATGTCGCCTTTTCTTC	0.458																																						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.(736-738)Cga>Tga		G patch domain containing 4							340	322	328					1																	156565382		2203	4300	6503	SO:0001587	stop_gained	54865					intracellular	nucleic acid binding	g.chr1:156565382G>A	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.751C>T	1.37:g.156565382G>A	ENSP00000396441:p.Arg251*		Somatic				GPATCH4_ENST00000438976.2_Nonsense_Mutation_p.R251*	p.R246*	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	WXS	Illumina GAIIx	Phase_I	Q5T3I0	GPTC4_HUMAN			8	868	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		246					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Nonsense_Mutation	SNP	ENST00000438976.2	37	c.736C>T	CCDS44245.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024352	0.54683	.	.	ENSG00000160818	ENST00000368232;ENST00000368229;ENST00000438976;ENST00000415314	.	.	.	5.91	1.05	0.20165	.	2.135880	0.02049	N	0.049867	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-17.834	4.2524	0.10702	0.0757:0.1441:0.3848:0.3953	.	.	.	.	X	246;246;251;217	.	ENSP00000357212:R246X	R	-	1	2	GPATCH4	154832006	0.000000	0.05858	0.000000	0.03702	0.194000	0.23727	-0.001000	0.12947	0.255000	0.21593	0.655000	0.94253	CGA		0.458	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		5	195	0	0	0	1	0	5	195					A	156565382	G	A	156565382	4	1	48	1	0	0	0	0	0	1	0	0	6601	1095	38	1	380	1	GPATCH4	1	156565382	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	343091	156565382	92685239	249	4717										
NES	10763	broad.mit.edu	37	chr1	156642319	156642319	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagagtcttcagtgactctTgaatctcctctcccagagac	7	14	5	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156642319T>C	ENST00000368223.3	-	4	1793	c.1661A>G	c.(1660-1662)cAa>cGa	p.Q554R		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	554	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)					CAGTGACTCTTGAATCTCCTC	0.433																																						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.(1660-1662)cAa>cGa		nestin							59	65	63					1																	156642319		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.chr1:156642319T>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.1661A>G	1.37:g.156642319T>C	ENSP00000357206:p.Gln554Arg		Somatic					p.Q554R	NM_006617.1	NP_006608.1	WXS	Illumina GAIIx	Phase_I	P48681	NEST_HUMAN			4	1793	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		554			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.1661A>G	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.912321	0.33721	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.86164	-2.08	4.87	-2.36	0.06663	.	0.540328	0.14035	N	0.345879	T	0.69260	0.3091	M	0.77103	2.36	0.09310	N	1	B	0.26744	0.158	B	0.17098	0.017	T	0.61247	-0.7101	10	0.72032	D	0.01	.	1.4388	0.02350	0.2594:0.0831:0.2517:0.4059	.	554	P48681	NEST_HUMAN	R	554	ENSP00000357206:Q554R	ENSP00000255024:Q554R	Q	-	2	0	NES	154908943	0.000000	0.05858	0.000000	0.03702	0.203000	0.24098	-0.452000	0.06787	-0.340000	0.08388	0.377000	0.23210	CAA		0.433	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		22	33	0	0	0	1	0	22	33					C	156642319	T	C	156642319	3	2	48	1	0	0	0	0	1	0	0	0	10346	1812	63	4	3208	4	NES	1	156642319	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	76937	156642319	92608302	250	4718										
ISG20L2	81875	broad.mit.edu	37	chr1	156697363	156697363	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagcctccgcttcttgacaaAatttcggtgcttggcatttc	9	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156697363A>C	ENST00000313146.6	-	1	864	c.82T>G	c.(82-84)Ttt>Gtt	p.F28V	RRNAD1_ENST00000524343.1_5'Flank|ISG20L2_ENST00000472824.2_5'Flank|RRNAD1_ENST00000368218.4_5'Flank|RRNAD1_ENST00000368216.4_5'Flank|ISG20L2_ENST00000368219.1_Missense_Mutation_p.F28V	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	28					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCTTGACAAAATTTCGGTGC	0.468																																						ENST00000313146.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(82-84)Ttt>Gtt		interferon stimulated exonuclease gene 20kDa-like 2							70	79	76					1																	156697363		2203	4300	6503	SO:0001583	missense	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156697363A>C	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.82T>G	1.37:g.156697363A>C	ENSP00000323424:p.Phe28Val		Somatic				ISG20L2_ENST00000368219.1_Missense_Mutation_p.F28V	p.F28V	NM_030980.1	NP_112242.1	WXS	Illumina GAIIx	Phase_I	Q9H9L3	I20L2_HUMAN			1	864	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		28					D3DVC6|Q64KA2	Missense_Mutation	SNP	ENST00000313146.6	37	c.82T>G	CCDS1153.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055616	0.75960	.	.	ENSG00000143319	ENST00000313146;ENST00000368219	T;T	0.51574	0.7;0.7	5.41	4.29	0.51040	.	0.523930	0.17008	N	0.190628	T	0.40595	0.1123	L	0.36672	1.1	0.39991	D	0.97504	D	0.61697	0.99	P	0.62491	0.903	T	0.42310	-0.9459	10	0.72032	D	0.01	.	7.7094	0.28669	0.9076:0.0:0.0924:0.0	.	28	Q9H9L3	I20L2_HUMAN	V	28	ENSP00000323424:F28V;ENSP00000357202:F28V	ENSP00000323424:F28V	F	-	1	0	ISG20L2	154963987	1.000000	0.71417	0.808000	0.32385	0.998000	0.95712	6.447000	0.73465	1.077000	0.40990	0.533000	0.62120	TTT		0.468	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		46	61	0	0	0	1	0	46	61					C	156697363	A	C	156697363	3	2	48	1	0	0	0	0	1	0	0	0	7864	14	1	4	991	4	ISG20L2	1	156697363	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	55044	156697363	92553258	251	4719										
C1orf66	51093	broad.mit.edu	37	chr1	156703223	156703223	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggttgatggtgaagagcatcGaaggggatcagagactggtg	18	4	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156703223G>A	ENST00000368216.4	+	5	1177	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	RRNAD1_ENST00000368218.4_Missense_Mutation_p.E183K|RRNAD1_ENST00000476229.1_Missense_Mutation_p.E60K	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	183						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						GAAGAGCATCGAAGGGGATCA	0.597																																						ENST00000368216.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(547-549)Gaa>Aaa		ribosomal RNA adenine dimethylase domain containing 1							90	97	94					1																	156703223		2203	4300	6503	SO:0001583	missense	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156703223G>A	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 66"	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.547G>A	1.37:g.156703223G>A	ENSP00000357199:p.Glu183Lys		Somatic				RRNAD1_ENST00000476229.1_Missense_Mutation_p.E60K|RRNAD1_ENST00000368218.4_Missense_Mutation_p.E183K	p.E183K	NM_015997.3	NP_057081.3	WXS	Illumina GAIIx	Phase_I	Q96FB5	RRNAD_HUMAN			5	1177	+			183					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	c.547G>A	CCDS1154.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030272	0.93575	.	.	ENSG00000143303	ENST00000368218;ENST00000368216;ENST00000519086;ENST00000484742;ENST00000476229	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	4.75	4.75	0.60458	Ribosomal RNA adenine methylase transferase, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.71031	0.3292	M	0.90870	3.155	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.78339	-0.2242	10	0.72032	D	0.01	-10.3931	16.4887	0.84193	0.0:0.0:1.0:0.0	.	183;183	Q4VX71;Q96FB5	.;RRNAD_HUMAN	K	183;183;162;81;60	ENSP00000357201:E183K;ENSP00000357199:E183K;ENSP00000429756:E162K;ENSP00000429053:E81K	ENSP00000357199:E183K	E	+	1	0	RRNAD1	154969847	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	7.476000	0.81055	2.490000	0.84030	0.561000	0.74099	GAA		0.597	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		29	76	0	0	0	1	0	29	76					A	156703223	G	A	156703223	3	1	48	1	0	0	0	0	1	0	0	0	2058	1059	37	1	565	1	C1orf66	1	156703223	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5860	156703223	92547398	252	4720										
ARHGEF11	9826	broad.mit.edu	37	chr1	156928929	156928929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcttcgctgttccgcaggcGcgagtctgtagtgggagatc	14	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156928929G>A	ENST00000361409.2	-	15	1910	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.R430C	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	390	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				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)					TTCCGCAGGCGCGAGTCTGTA	0.572																																						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.(1288-1290)Cgc>Tgc		Rho guanine nucleotide exchange factor (GEF) 11							63	55	58					1																	156928929		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.chr1:156928929G>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.1168C>T	1.37:g.156928929G>A	ENSP00000354644:p.Arg390Cys		Somatic				ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R390C	p.R430C	NM_198236.2	NP_937879.1	WXS	Illumina GAIIx	Phase_I	O15085	ARHGB_HUMAN			16	2327	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		390			RGSL.		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.1288C>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204379	0.38905	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.84730	-1.89;-1.89	4.69	3.76	0.43208	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.115307	0.36932	N	0.002332	D	0.87346	0.6154	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.68621	0.959;0.84	D	0.88777	0.3268	10	0.87932	D	0	-13.608	12.1815	0.54214	0.0:0.0:0.8288:0.1712	.	390;430	O15085;O15085-2	ARHGB_HUMAN;.	C	430;390	ENSP00000357177:R430C;ENSP00000354644:R390C	ENSP00000354644:R390C	R	-	1	0	ARHGEF11	155195553	1.000000	0.71417	0.707000	0.30419	0.003000	0.03518	5.606000	0.67641	1.176000	0.42840	-0.500000	0.04577	CGC		0.572	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		11	13	0	0	0	1	0	11	13					A	156928929	G	A	156928929	3	1	48	1	0	0	0	0	1	0	0	0	896	1087	38	1	3504	1	ARHGEF11	1	156928929	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	225706	156928929	92321692	253	4721										
FCRL3	115352	broad.mit.edu	37	chr1	157659642	157659642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcagcagcagcagcaaggaCgaggatgctgagcaccagcc	14	12	0	1	rs145354138	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:157659642C>T	ENST00000368184.3	-	10	2047	c.1756G>A	c.(1756-1758)Gtc>Atc	p.V586I	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.V586I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	586						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCAGCAAGGACGAGGATGCTG	0.567													C|||	3	0.000599042	0.0023	0	5008	,	,		17773	0		0	False		,,,				2504	0					ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(1756-1758)Gtc>Atc		Fc receptor-like 3		C	ILE/VAL	0,4406		0,0,2203	137	111	120		1756	1.2	0	1	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FCRL3	NM_052939.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	586/735	157659642	1,13005	2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157659642C>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1756G>A	1.37:g.157659642C>T	ENSP00000357167:p.Val586Ile		Somatic				FCRL3_ENST00000368186.5_Missense_Mutation_p.V586I|FCRL3_ENST00000473231.1_5'UTR	p.V586I	NM_052939.3	NP_443171.2	WXS	Illumina GAIIx	Phase_I	Q96P31	FCRL3_HUMAN			10	2047	-	all_hematologic(112;0.0378)		586					A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.1756G>A	CCDS1167.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	11.01	1.511784	0.27036	0.0	1.16E-4	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.52526	0.67;0.66	5.21	1.2	0.21068	.	46.063000	0.00879	N	0.002110	T	0.08626	0.0214	N	0.14661	0.345	0.09310	N	1	P;P;P	0.47106	0.643;0.89;0.756	B;B;B	0.35114	0.056;0.196;0.075	T	0.25950	-1.0117	10	0.02654	T	1	.	10.0297	0.42092	0.0:0.6783:0.0:0.3217	.	586;491;586	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	I	586	ENSP00000357169:V586I;ENSP00000357167:V586I	ENSP00000292392:V586I	V	-	1	0	FCRL3	155926266	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.023000	0.12456	-0.007000	0.14345	-0.813000	0.03139	GTC		0.567	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		24	36	0	0	0	1	0	24	36					T	157659642	C	T	157659642	3	4	48	1	0	0	0	0	1	0	0	0	5804	536	19	1	472	1	FCRL3	1	157659642	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	730713	157659642	91590979	254	4722										
FCRL3	115352	broad.mit.edu	37	chr1	157667524	157667524	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttcctataagcagtacaatGatatttgctattatccctgg	6	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:157667524G>T	ENST00000368184.3	-	5	775	c.484C>A	c.(484-486)Cat>Aat	p.H162N	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.H162N	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	162	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCAGTACAATGATATTTGCTA	0.338																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(484-486)Cat>Aat		Fc receptor-like 3							179	178	178					1																	157667524		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157667524G>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.484C>A	1.37:g.157667524G>T	ENSP00000357167:p.His162Asn		Somatic				FCRL3_ENST00000368186.5_Missense_Mutation_p.H162N|FCRL3_ENST00000473231.1_5'UTR	p.H162N	NM_052939.3	NP_443171.2	WXS	Illumina GAIIx	Phase_I	Q96P31	FCRL3_HUMAN			5	775	-	all_hematologic(112;0.0378)		162			Ig-like C2-type 2.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.484C>A	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662631	0.47572	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12361	2.69;2.69	5.01	-5.5	0.02576	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	6.544990	0.00465	U	0.000108	T	0.07548	0.0190	M	0.73753	2.245	0.09310	N	1	B;B	0.33212	0.33;0.402	B;B	0.41412	0.356;0.162	T	0.26608	-1.0098	10	0.40728	T	0.16	.	4.4309	0.11527	0.5909:0.1147:0.1782:0.1162	.	162;162	Q96P31;Q96P31-6	FCRL3_HUMAN;.	N	162	ENSP00000357169:H162N;ENSP00000357167:H162N	ENSP00000292392:H162N	H	-	1	0	FCRL3	155934148	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-1.308000	0.02730	-1.503000	0.01812	-0.327000	0.08410	CAT		0.338	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		28	42	1	0	4.43304e-23	1	6.18842e-23	28	42					T	157667524	G	T	157667524	3	4	48	1	0	0	0	0	1	0	0	0	5804	1290	45	2	1764	2	FCRL3	1	157667524	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	7882	157667524	91583097	255	4723										
KIRREL	55243	broad.mit.edu	37	chr1	158064879	158064879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcactcggactacggccagcGattccagcagcgcatgcaga	12	14	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158064879G>A	ENST00000359209.6	+	15	2310	c.2243G>A	c.(2242-2244)cGa>cAa	p.R748Q	KIRREL_ENST00000360089.4_Missense_Mutation_p.R584Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.R648Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.R764Q|KIRREL_ENST00000368172.1_Missense_Mutation_p.R562Q|KIRREL_ENST00000392272.2_Missense_Mutation_p.R645Q			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	748					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)					TACGGCCAGCGATTCCAGCAG	0.607																																						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.(1684-1686)cGa>cAa		kin of IRRE like (Drosophila)							38	35	36					1																	158064879		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158064879G>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.2243G>A	1.37:g.158064879G>A	ENSP00000352138:p.Arg748Gln		Somatic				KIRREL_ENST00000359209.6_Missense_Mutation_p.R748Q|KIRREL_ENST00000360089.4_Missense_Mutation_p.R584Q|KIRREL_ENST00000392272.2_Missense_Mutation_p.R645Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.R648Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.R764Q	p.R562Q			WXS	Illumina GAIIx	Phase_I	Q96J84	KIRR1_HUMAN			11	1697	+	all_hematologic(112;0.0378)		748					Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1685G>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	33	5.253209	0.95336	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.77750	-0.12;-1.12;-0.5;-0.74;-0.66;-0.31	5.64	5.64	0.86602	.	0.000000	0.36740	N	0.002427	T	0.78848	0.4348	L	0.29908	0.895	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;D;D;D	0.79108	0.859;0.992;0.988;0.992	T	0.80360	-0.1415	10	0.52906	T	0.07	-13.7666	17.1975	0.86897	0.0:0.0:1.0:0.0	.	648;584;562;748	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	Q	584;764;645;748;648;562	ENSP00000353202:R584Q;ENSP00000357155:R764Q;ENSP00000376098:R645Q;ENSP00000352138:R748Q;ENSP00000389674:R648Q;ENSP00000357154:R562Q	ENSP00000352138:R748Q	R	+	2	0	KIRREL	156331503	1.000000	0.71417	0.928000	0.36995	0.972000	0.66771	4.958000	0.63660	2.655000	0.90218	0.655000	0.94253	CGA		0.607	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		11	20	0	0	0	1	0	11	20					A	158064879	G	A	158064879	3	1	48	1	0	0	0	0	1	0	0	0	8333	1058	37	1	2301	1	KIRREL	1	158064879	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	397355	158064879	91185742	256	4724										
CD1A	909	broad.mit.edu	37	chr1	158225933	158225933	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgccatatccagtggctggGaatatggccaagcatttctg	11	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158225933G>A	ENST00000289429.5	+	3	998	c.465G>A	c.(463-465)ggG>ggA	p.G155G		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	155					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.G155G(1)		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)	CAGTGGCTGGGAATATGGCCA	0.443																																						ENST00000289429.5																			1	Substitution - coding silent(1)	p.G155G(1)	lung(1)	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.(463-465)ggG>ggA		CD1a molecule	Antithymocyte globulin(DB00098)						111	98	102					1																	158225933		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.chr1:158225933G>A	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.465G>A	1.37:g.158225933G>A			Somatic					p.G155G	NM_001763.2	NP_001754.2	WXS	Illumina GAIIx	Phase_I	P06126	CD1A_HUMAN			3	998	+	all_hematologic(112;0.0378)		155					D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	c.465G>A	CCDS1174.1																																																																																				0.443	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		29	61	0	0	0	1	0	29	61					A	158225933	G	A	158225933	2	1	48	1	0	0	0	0	0	0	0	1	2976	1161	41	3		3	CD1A	1	158225933	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	161054	158225933	91024688	257	4725										
CD1C	911	broad.mit.edu	37	chr1	158263087	158263087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgtgttatggtttaagaaGcactggtgagttttttgtat	11	3	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158263087G>A	ENST00000368170.3	+	5	1254	c.975G>A	c.(973-975)aaG>aaA	p.K325K		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	325					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)					GGTTTAAGAAGCACTGGTGAG	0.393																																						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.(973-975)aaG>aaA		CD1c molecule							471	441	451					1																	158263087		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.chr1:158263087G>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.975G>A	1.37:g.158263087G>A			Somatic					p.K325K	NM_001765.2	NP_001756.2	WXS	Illumina GAIIx	Phase_I	P29017	CD1C_HUMAN			5	1254	+	all_hematologic(112;0.0378)		325					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Silent	SNP	ENST00000368170.3	37	c.975G>A	CCDS1175.1																																																																																				0.393	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		18	85	0	0	0	1	0	18	85					A	158263087	G	A	158263087	2	1	48	1	0	0	0	0	0	0	0	1	2978	962	34	3		3	CD1C	1	158263087	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	37154	158263087	90987534	258	4726										
OR10T2	128360	broad.mit.edu	37	chr1	158368397	158368397	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctcagactgtagacaagaGgattaagtaagggagtaacc	11	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158368397G>T	ENST00000334438.1	-	1	859	c.860C>A	c.(859-861)cCt>cAt	p.P287H		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P287H(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)					GTAGACAAGAGGATTAAGTAA	0.433																																						ENST00000334438.1																			1	Substitution - Missense(1)	p.P287H(1)	large_intestine(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.(859-861)cCt>cAt		olfactory receptor, family 10, subfamily T, member 2							60	53	55					1																	158368397		2203	4300	6503	SO:0001583	missense	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368397G>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.860C>A	1.37:g.158368397G>T	ENSP00000334115:p.Pro287His		Somatic					p.P287H	NM_001004475.1	NP_001004475.1	WXS	Illumina GAIIx	Phase_I	Q8NGX3	O10T2_HUMAN			1	859	-	all_hematologic(112;0.0378)		287					Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	c.860C>A	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908341	0.72868	.	.	ENSG00000186306	ENST00000334438	T	0.64260	-0.09	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	D	0.000827	D	0.83857	0.5345	H	0.96633	3.855	0.38734	D	0.953734	D	0.89917	1.0	D	0.79108	0.992	D	0.89753	0.3941	10	0.87932	D	0	.	16.2855	0.82717	0.0:0.0:1.0:0.0	.	287	Q8NGX3	O10T2_HUMAN	H	287	ENSP00000334115:P287H	ENSP00000334115:P287H	P	-	2	0	OR10T2	156635021	1.000000	0.71417	0.975000	0.42487	0.900000	0.52787	7.205000	0.77881	2.359000	0.80004	0.655000	0.94253	CCT		0.433	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		12	23	1	0	1.52009e-12	1	1.92208e-12	12	23					T	158368397	G	T	158368397	3	4	48	1	0	0	0	0	1	0	0	0	10928	1000	35	5	86	5	OR10T2	1	158368397	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	105310	158368397	90882224	259	4727										
OR10X1	128367	broad.mit.edu	37	chr1	158548750	158548750	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttcccatcattcttctaaAagcatttttcatgtccttat	3	10	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158548750A>C	ENST00000368150.1	-	1	939	c.940T>G	c.(940-942)Ttt>Gtt	p.F314V		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ATTCTTCTAAAAGCATTTTTC	0.433																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(940-942)Ttt>Gtt		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							131	136	134					1																	158548750		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158548750A>C	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.940T>G	1.37:g.158548750A>C	ENSP00000357132:p.Phe314Val		Somatic					p.F314V	NM_001004477.1	NP_001004477.1	WXS	Illumina GAIIx	Phase_I	Q8NGY0	O10X1_HUMAN			1	939	-	all_hematologic(112;0.0378)		314					Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.940T>G	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	A	8.766	0.924831	0.18056	.	.	ENSG00000186400	ENST00000368150	T	0.38077	1.16	4.5	3.29	0.37713	.	0.283030	0.25355	N	0.031273	T	0.07863	0.0197	N	0.13371	0.34	0.31442	N	0.671869	P	0.40431	0.717	B	0.35312	0.2	T	0.11494	-1.0585	10	0.27785	T	0.31	.	8.5674	0.33547	0.8278:0.0:0.0:0.1722	.	314	Q8NGY0	O10X1_HUMAN	V	314	ENSP00000357132:F314V	ENSP00000357132:F314V	F	-	1	0	OR10X1	156815374	0.003000	0.15002	0.886000	0.34754	0.045000	0.14185	0.260000	0.18424	2.001000	0.58596	0.460000	0.39030	TTT		0.433	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		14	108	0	0	0	1	0	14	108					C	158548750	A	C	158548750	3	2	48	1	0	0	0	0	1	0	0	0	10931	14	1	4	35	4	OR10X1	1	158548750	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	180353	158548750	90701871	260	4728										
OR10X1	128367	broad.mit.edu	37	chr1	158549183	158549183	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtctctgtaagagagataaaGaagcctgcagtgcaagcaga	12	7	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158549183G>T	ENST00000368150.1	-	1	506	c.507C>A	c.(505-507)ttC>ttA	p.F169L		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F169F(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GAGAGATAAAGAAGCCTGCAG	0.468																																						ENST00000368150.1																			1	Substitution - coding silent(1)	p.F169F(1)	cervix(1)	breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(505-507)ttC>ttA		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							51	53	52					1																	158549183		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549183G>T	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.507C>A	1.37:g.158549183G>T	ENSP00000357132:p.Phe169Leu		Somatic					p.F169L	NM_001004477.1	NP_001004477.1	WXS	Illumina GAIIx	Phase_I	Q8NGY0	O10X1_HUMAN			1	506	-	all_hematologic(112;0.0378)		169					Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.507C>A	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	G	5.785	0.329095	0.10956	.	.	ENSG00000186400	ENST00000368150	T	0.00039	8.85	5.0	0.724	0.18236	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000098	T	0.00073	0.0002	N	0.25031	0.7	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.43310	-0.9399	10	0.14656	T	0.56	.	8.596	0.33716	0.4304:0.0:0.5696:0.0	.	169	Q8NGY0	O10X1_HUMAN	L	169	ENSP00000357132:F169L	ENSP00000357132:F169L	F	-	3	2	OR10X1	156815807	0.000000	0.05858	0.120000	0.21714	0.074000	0.17049	-1.417000	0.02464	0.278000	0.22164	-0.259000	0.10710	TTC		0.468	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		23	25	1	0	7.41877e-09	1	8.8016e-09	23	25					T	158549183	G	T	158549183	3	4	48	1	0	0	0	0	1	0	0	0	10931	933	33	2	468	2	OR10X1	1	158549183	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	433	158549183	90701438	261	4729										
SPTA1	6708	broad.mit.edu	37	chr1	158582729	158582729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatcaggaaagcagtatagtCctccagtgagacatagccct	9	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158582729C>T	ENST00000368147.4	-	51	7192	c.7012G>A	c.(7012-7014)Gac>Aac	p.D2338N	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2338	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)					GCAGTATAGTCCTCCAGTGAG	0.468																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(7012-7014)Gac>Aac		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							78	74	76					1																	158582729		1926	4134	6060	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.chr1:158582729C>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.7012G>A	1.37:g.158582729C>T	ENSP00000357129:p.Asp2338Asn		Somatic				SPTA1_ENST00000368147.3_Missense_Mutation_p.D2335N	p.D2338N	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			51	7192	-	all_hematologic(112;0.0378)		2338			EF-hand 2.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.7012G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821535	0.90873	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.24908	1.83;1.83	5.39	5.39	0.77823	EF-hand-like domain (1);	0.239748	0.21595	N	0.072024	T	0.23289	0.0563	L	0.36672	1.1	0.53688	D	0.999978	B	0.30973	0.302	B	0.43536	0.423	T	0.08391	-1.0724	10	0.87932	D	0	.	17.8981	0.88895	0.0:1.0:0.0:0.0	.	2338	P02549	SPTA1_HUMAN	N	2338;2335	ENSP00000357130:D2338N;ENSP00000357129:D2335N	ENSP00000357129:D2335N	D	-	1	0	SPTA1	156849353	1.000000	0.71417	0.549000	0.28204	0.677000	0.39632	6.962000	0.76048	2.795000	0.96236	0.655000	0.94253	GAC		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		17	33	0	0	0	1	0	17	33					T	158582729	C	T	158582729	3	4	48	1	0	0	0	0	1	0	0	0	15131	855	30	3	255	3	SPTA1	1	158582729	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	33546	158582729	90667892	262	4730										
SPTA1	6708	broad.mit.edu	37	chr1	158605732	158605732	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccaactctttgagcttctcCcagtgttcaacaaactgagc	7	13	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158605732C>A	ENST00000368147.4	-	38	5583	c.5403G>T	c.(5401-5403)tgG>tgT	p.W1801C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1801					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.W1801C(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)					TGAGCTTCTCCCAGTGTTCAA	0.522																																						ENST00000368148.3																			1	Substitution - Missense(1)	p.W1801C(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.(5401-5403)tgG>tgT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							96	100	98					1																	158605732		1950	4145	6095	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.chr1:158605732C>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.5403G>T	1.37:g.158605732C>A	ENSP00000357129:p.Trp1801Cys		Somatic				SPTA1_ENST00000368147.3_Missense_Mutation_p.W1801C	p.W1801C	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			38	5583	-	all_hematologic(112;0.0378)		1801					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5403G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150324	0.78001	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.68903	-0.36;-0.36	5.65	5.65	0.86999	.	0.000000	0.30410	N	0.009696	D	0.84999	0.5597	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87097	0.2176	10	0.72032	D	0.01	.	18.4695	0.90767	0.0:1.0:0.0:0.0	.	1801	P02549	SPTA1_HUMAN	C	1801	ENSP00000357130:W1801C;ENSP00000357129:W1801C	ENSP00000357129:W1801C	W	-	3	0	SPTA1	156872356	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.106000	0.77039	2.941000	0.99782	0.655000	0.94253	TGG		0.522	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		42	88	1	0	1.59361e-14	1	2.07668e-14	42	88					A	158605732	C	A	158605732	3	1	48	1	0	0	0	0	1	0	0	0	15131	624	22	5	1916	5	SPTA1	1	158605732	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	23003	158605732	90644889	263	4731										
OR6N2	81442	broad.mit.edu	37	chr1	158747230	158747230	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccacaactccaagaaggaaaGaacactgacaaagtggtaca	8	10	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158747230G>T	ENST00000339258.1	-	1	195	c.196C>A	c.(196-198)Ctt>Att	p.L66I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, 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)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AAGAAGGAAAGAACACTGACA	0.438																																						ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(196-198)Ctt>Att		olfactory receptor, family 6, subfamily N, member 2							174	164	167					1																	158747230		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747230G>T	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"GPCR / Class A : Olfactory receptors"	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.196C>A	1.37:g.158747230G>T	ENSP00000344101:p.Leu66Ile		Somatic					p.L66I	NM_001005278.1	NP_001005278.1	WXS	Illumina GAIIx	Phase_I	Q8NGY6	OR6N2_HUMAN			1	195	-	all_hematologic(112;0.0378)		66					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.196C>A	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417057	0.62511	.	.	ENSG00000188340	ENST00000339258	T	0.00587	6.38	5.17	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34676	N	0.003771	T	0.02267	0.0070	H	0.96604	3.85	0.34367	D	0.691598	D	0.89917	1.0	D	0.80764	0.994	T	0.02625	-1.1132	10	0.72032	D	0.01	-22.295	9.5415	0.39255	0.1682:0.0:0.8318:0.0	.	66	Q8NGY6	OR6N2_HUMAN	I	66	ENSP00000344101:L66I	ENSP00000344101:L66I	L	-	1	0	OR6N2	157013854	0.573000	0.26676	0.985000	0.45067	0.953000	0.61014	0.879000	0.28146	1.414000	0.47017	0.650000	0.86243	CTT		0.438	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			9	195	1	0	0.00621372	1	0.0064192	9	195					T	158747230	G	T	158747230	3	4	48	1	0	0	0	0	1	0	0	0	11216	942	33	2	760	2	OR6N2	1	158747230	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	141498	158747230	90503391	264	4732										
FCER1A	2205	broad.mit.edu	37	chr1	159277721	159277721	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccaaaccccaaaaacaactGatataattactcaagaaata	3	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:159277721G>T	ENST00000368115.1	+	6	872	c.773G>T	c.(772-774)tGa>tTa	p.*258L	FCER1A_ENST00000368114.1_Nonstop_Mutation_p.*225L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	0					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)	AAAAACAACTGATATAATTAC	0.378																																						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.(772-774)tGa>tTa		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						71	67	68					1																	159277721		2203	4300	6503	SO:0001578	stop_lost	2205					integral to plasma membrane		g.chr1:159277721G>T	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.773G>T	1.37:g.159277721G>T	ENSP00000357097:p.*258Leuext*44		Somatic				FCER1A_ENST00000368114.1_Nonstop_Mutation_p.*225L	p.*258L	NM_002001.3	NP_001992.1	WXS	Illumina GAIIx	Phase_I	P12319	FCERA_HUMAN			6	872	+	all_hematologic(112;0.0429)		0						Nonstop_Mutation	SNP	ENST00000368115.1	37	c.773G>T	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	G	5.420	0.262624	0.10294	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	.	.	.	4.31	0.832	0.18867	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9952	0.19489	0.4141:0.0:0.5859:0.0	.	.	.	.	L	258;225	.	.	X	+	2	2	FCER1A	157544345	0.508000	0.26154	0.010000	0.14722	0.002000	0.02628	1.024000	0.30077	0.171000	0.19730	-0.145000	0.13849	TGA		0.378	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		10	22	1	0	0.0692343	1	0.0701576	10	22					T	159277721	G	T	159277721	4	4	48	1	0	0	0	0	0	0	0	0	5782	1285	45	2	791	2	FCER1A	1	159277721	Nonstop_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	530491	159277721	89972900	265	4733										
OR10J5	127385	broad.mit.edu	37	chr1	159505559	159505559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaatgaggctcaaaagcattCgtggcacaatgaccagtgtg	11	8	1	2	rs146863607		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:159505559C>T	ENST00000334857.2	-	1	283	c.239G>A	c.(238-240)cGa>cAa	p.R80Q		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R80Q(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CAAAAGCATTCGTGGCACAAT	0.428																																						ENST00000334857.2																			1	Substitution - Missense(1)	p.R80Q(1)	skin(1)	kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(238-240)cGa>cAa		olfactory receptor, family 10, subfamily J, member 5							164	134	144					1																	159505559		2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505559C>T		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.239G>A	1.37:g.159505559C>T	ENSP00000334441:p.Arg80Gln		Somatic					p.R80Q	NM_001004469.1	NP_001004469.1	WXS	Illumina GAIIx	Phase_I	Q8NHC4	O10J5_HUMAN			1	283	-	all_hematologic(112;0.0429)		80					B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.239G>A	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	C	0.608	-0.826345	0.02734	.	.	ENSG00000184155	ENST00000334857	T	0.00402	7.56	4.32	0.154	0.14901	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.10645	0.015	0.09310	N	1	B	0.27656	0.184	B	0.18871	0.023	T	0.01162	-1.1432	9	0.31617	T	0.26	.	4.4577	0.11650	0.1563:0.5707:0.0:0.273	.	80	Q8NHC4	O10J5_HUMAN	Q	80	ENSP00000334441:R80Q	ENSP00000334441:R80Q	R	-	2	0	OR10J5	157772183	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.480000	0.06559	-0.056000	0.13221	-0.373000	0.07131	CGA		0.428	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		41	70	0	0	0	1	0	41	70					T	159505559	C	T	159505559	3	4	48	1	0	0	0	0	1	0	0	0	10921	884	31	1	692	1	OR10J5	1	159505559	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	227838	159505559	89745062	266	4734										
ATP1A2	477	broad.mit.edu	37	chr1	160106452	160106452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggctactgggaatccgcctcGactgggatgaccggaccatg	14	12	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160106452G>A	ENST00000361216.3	+	19	2745	c.2656G>A	c.(2656-2658)Gac>Aac	p.D886N	ATP1A2_ENST00000392233.3_Missense_Mutation_p.D886N	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	886					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)			AATCCGCCTCGACTGGGATGA	0.557																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(2656-2658)Gac>Aac		ATPase, Na+/K+ transporting, alpha 2 polypeptide							98	88	91					1																	160106452		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160106452G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2656G>A	1.37:g.160106452G>A	ENSP00000354490:p.Asp886Asn		Somatic				ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.D886N	p.D886N	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)		19	2745	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		886					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.2656G>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	7.773	0.707776	0.15239	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.88201	-2.35;-2.35	4.71	4.71	0.59529	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.236191	0.39985	N	0.001220	T	0.68952	0.3057	N	0.16266	0.395	0.39935	D	0.974338	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.65051	-0.6262	10	0.11794	T	0.64	.	15.5314	0.75964	0.0:0.0:1.0:0.0	.	786;886	F5GXJ7;P50993	.;AT1A2_HUMAN	N	886;886;589	ENSP00000354490:D886N;ENSP00000376066:D886N	ENSP00000354490:D886N	D	+	1	0	ATP1A2	158373076	0.028000	0.19301	0.956000	0.39512	0.994000	0.84299	1.117000	0.31234	2.590000	0.87494	0.561000	0.74099	GAC		0.557	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		43	69	0	0	0	1	0	43	69					A	160106452	G	A	160106452	3	1	48	1	0	0	0	0	1	0	0	0	1129	1058	37	1	2730	1	ATP1A2	1	160106452	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	600893	160106452	89144169	267	4735										
ATP1A4	480	broad.mit.edu	37	chr1	160124942	160124942	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaattctgtaagcaactgttCggaggcttctccctcctact	7	12	2	0	rs140019547	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160124942C>T	ENST00000368081.4	+	3	786	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	105					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.F105F(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCAACTGTTCGGAGGCTTCT	0.512													C|||	26	0.00519169	0.0197	0	5008	,	,		16652	0		0	False		,,,				2504	0					ENST00000368081.4																			1	Substitution - coding silent(1)	p.F105F(1)	large_intestine(1)	breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(313-315)ttC>ttT		ATPase, Na+/K+ transporting, alpha 4 polypeptide		C		79,4327	69.8+/-107.6	0,79,2124	88	86	87		315	-9	0	1	dbSNP_134	87	0,8600		0,0,4300	no	coding-synonymous	ATP1A4	NM_144699.3		0,79,6424	TT,TC,CC		0.0,1.793,0.6074		105/1030	160124942	79,12927	2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160124942C>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.315C>T	1.37:g.160124942C>T			Somatic					p.F105F	NM_144699.3	NP_653300.2	WXS	Illumina GAIIx	Phase_I	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	786	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		105					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.315C>T	CCDS1197.1																																																																																				0.512	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		27	53	0	0	0	1	0	27	53					T	160124942	C	T	160124942	2	4	48	1	0	0	0	0	0	0	0	1	1131	883	31	1		1	ATP1A4	1	160124942	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	18490	160124942	89125679	268	4736										
PEX19	5824	broad.mit.edu	37	chr1	160252876	160252876	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatagttcctggaaaaacttCtcttgggaagcgaagagggc	12	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160252876C>A	ENST00000368072.5	-	3	225	c.204G>T	c.(202-204)gaG>gaT	p.E68D	DCAF8_ENST00000556710.1_5'UTR|DCAF8_ENST00000608310.1_5'UTR|PEX19_ENST00000440949.3_5'UTR|PEX19_ENST00000532508.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	68	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)			GGAAAAACTTCTCTTGGGAAG	0.542																																						ENST00000368072.5																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11						c.(202-204)gaG>gaT		peroxisomal biogenesis factor 19							73	77	76					1																	160252876		2203	4300	6503	SO:0001583	missense	5824							g.chr1:160252876C>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.204G>T	1.37:g.160252876C>A	ENSP00000357051:p.Glu68Asp		Somatic				DCAF8_ENST00000556710.1_5'UTR|PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_5'UTR	p.E68D	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(70;0.111)		3	225	-	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)							D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	37	c.204G>T	CCDS1201.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908460	0.72868	.	.	ENSG00000162735	ENST00000368072;ENST00000429425;ENST00000392220	.	.	.	4.65	4.65	0.58169	.	0.247890	0.42682	D	0.000678	T	0.23094	0.0558	N	0.17631	0.505	0.80722	D	1	D	0.56287	0.975	P	0.48704	0.587	T	0.01762	-1.1279	9	0.17369	T	0.5	-20.0565	10.8344	0.46679	0.0:0.9094:0.0:0.0906	.	68	P40855	PEX19_HUMAN	D	68;48;48	.	ENSP00000357051:E68D	E	-	3	2	PEX19	158519500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.339000	0.33885	2.519000	0.84933	0.557000	0.71058	GAG		0.542	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		25	45	1	0	1.37878e-21	1	1.90629e-21	25	45					A	160252876	C	A	160252876	3	1	48	1	0	0	0	0	1	0	0	0	11753	912	32	2	719	2	PEX19	1	160252876	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	127934	160252876	88997745	269	4737										
COPA	1314	broad.mit.edu	37	chr1	160276964	160276964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttaactcaccgaatgcatccGatctaggacagcaaaccgat	7	12	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160276964G>A	ENST00000241704.7	-	14	1520	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	COPA_ENST00000368069.3_Missense_Mutation_p.R431W	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	431					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.R431W(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAATGCATCCGATCTAGGACA	0.478																																						ENST00000241704.7																			1	Substitution - Missense(1)	p.R431W(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(1291-1293)Cgg>Tgg		coatomer protein complex, subunit alpha							168	164	165					1																	160276964		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160276964G>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1291C>T	1.37:g.160276964G>A	ENSP00000241704:p.Arg431Trp		Somatic				COPA_ENST00000368069.3_Missense_Mutation_p.R431W	p.R431W	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)		14	1520	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		431					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.1291C>T	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581389	0.86748	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.62364	0.05;0.03	5.46	5.46	0.80206	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	T	0.79534	0.4462	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.81671	-0.0827	10	0.87932	D	0	-17.1783	18.0325	0.89289	0.0:0.0:1.0:0.0	.	431;431	P53621;P53621-2	COPA_HUMAN;.	W	431	ENSP00000357048:R431W;ENSP00000241704:R431W	ENSP00000241704:R431W	R	-	1	2	COPA	158543588	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.405000	0.80007	2.847000	0.97988	0.591000	0.81541	CGG		0.478	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		77	128	0	0	0	1	0	77	128					A	160276964	G	A	160276964	3	1	48	1	0	0	0	0	1	0	0	0	3729	1057	37	1	2490	1	COPA	1	160276964	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	24088	160276964	88973657	270	4738										
CD84	8832	broad.mit.edu	37	chr1	160519727	160519727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttatcagcaaactgcacttCggaataaactgtgttcactg	7	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160519727C>T	ENST00000311224.4	-	7	1018	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368048.3_Missense_Mutation_p.E312K|CD84_ENST00000368054.3_Missense_Mutation_p.E301K|CD84_ENST00000534968.1_Missense_Mutation_p.E187K|CD84_ENST00000368051.3_Missense_Mutation_p.R268Q	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	318					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AACTGCACTTCGGAATAAACT	0.517																																						ENST00000368054.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24						c.(901-903)Gaa>Aaa		CD84 molecule							121	109	113					1																	160519727		2203	4300	6503	SO:0001583	missense	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160519727C>T	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1704	protein-coding gene	gene with protein product		604513	"CD84 antigen (leukocyte antigen)", "CD84 molecule "			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.952G>A	1.37:g.160519727C>T	ENSP00000312367:p.Glu318Lys		Somatic				CD84_ENST00000368051.3_Missense_Mutation_p.R268Q|CD84_ENST00000368048.3_Missense_Mutation_p.E312K|CD84_ENST00000311224.4_Missense_Mutation_p.E318K|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Missense_Mutation_p.E187K	p.E301K	NM_003874.3	NP_003865.1	WXS	Illumina GAIIx	Phase_I	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		6	936	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		318					B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	c.901G>A	CCDS53396.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.619|9.619	1.133270|1.133270	0.21041|0.21041	.|.	.|.	ENSG00000066294|ENSG00000066294	ENST00000534968;ENST00000368054;ENST00000368048;ENST00000311224|ENST00000368051	T;T;T;T|T	0.59364|0.63417	2.55;0.37;0.27;0.33|-0.04	4.51|4.51	0.786|0.786	0.18590|0.18590	.|.	2.209760|.	0.02313|.	N|.	0.072287|.	T|T	0.18341|0.18341	0.0440|0.0440	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P;P;P;P|B	0.35959|0.18610	0.46;0.53;0.46;0.46|0.029	B;B;B;B|B	0.26094|0.11329	0.049;0.048;0.066;0.049|0.006	T|T	0.17899|0.17899	-1.0354|-1.0354	9|8	0.06891|0.23891	T|T	0.86|0.37	4.4406|4.4406	2.7674|2.7674	0.05324|0.05324	0.1986:0.2234:0.0:0.578|0.1986:0.2234:0.0:0.578	.|.	187;318;312;301|268	Q9UIB8-7;Q9UIB8;Q9UIB8-2;Q9UIB8-3|Q9UIB8-5	.;SLAF5_HUMAN;.;.|.	K|Q	187;301;312;318|268	ENSP00000442845:E187K;ENSP00000357033:E301K;ENSP00000357027:E312K;ENSP00000312367:E318K|ENSP00000357030:R268Q	ENSP00000312367:E318K|ENSP00000357030:R268Q	E|R	-|-	1|2	0|0	CD84|CD84	158786351|158786351	0.112000|0.112000	0.22096|0.22096	0.025000|0.025000	0.17156|0.17156	0.003000|0.003000	0.03518|0.03518	0.382000|0.382000	0.20635|0.20635	0.024000|0.024000	0.15214|0.15214	-0.471000|-0.471000	0.05019|0.05019	GAA|CGA		0.517	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		25	46	0	0	0	1	0	25	46					T	160519727	C	T	160519727	3	4	48	1	0	0	0	0	1	0	0	0	3044	893	31	1	93	1	CD84	1	160519727	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	242763	160519727	88730894	271	4739										
CD48	962	broad.mit.edu	37	chr1	160651093	160651093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtaattatgtggcataaggGtggtttcaagcacactgttc	11	6	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160651093G>A	ENST00000368046.3	-	3	638	c.551C>T	c.(550-552)aCc>aTc	p.T184I	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	184	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)			TGGCATAAGGGTGGTTTCAAG	0.498																																						ENST00000368046.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(550-552)aCc>aTc		CD48 molecule							171	152	159					1																	160651093		2203	4300	6503	SO:0001583	missense	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160651093G>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.551C>T	1.37:g.160651093G>A	ENSP00000357025:p.Thr184Ile		Somatic				RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	p.T184I	NM_001778.3	NP_001769.2	WXS	Illumina GAIIx	Phase_I	P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	638	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		184			Ig-like C2-type 2.		Q5U055|Q8MGR0	Missense_Mutation	SNP	ENST00000368046.3	37	c.551C>T	CCDS1208.1	.	.	.	.	.	.	.	.	.	.	G	8.145	0.786134	0.16189	.	.	ENSG00000117091	ENST00000368046	T	0.12774	2.65	3.57	-2.13	0.07144	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.085050	0.06941	N	0.812766	T	0.03305	0.0096	L	0.29908	0.895	0.09310	N	0.999998	P;P	0.47484	0.573;0.896	B;P	0.44394	0.23;0.448	T	0.35425	-0.9789	10	0.16896	T	0.51	-0.0682	7.8823	0.29629	0.5811:0.0:0.4189:0.0	.	184;184	Q6IAZ2;P09326	.;CD48_HUMAN	I	184	ENSP00000357025:T184I	ENSP00000357025:T184I	T	-	2	0	CD48	158917717	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.625000	0.02036	-0.441000	0.07201	-0.345000	0.07892	ACC		0.498	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		36	87	0	0	0	1	0	36	87					A	160651093	G	A	160651093	3	1	48	1	0	0	0	0	1	0	0	0	3022	1261	44	3	188	3	CD48	1	160651093	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	131366	160651093	88599528	272	4740										
FCRLB	127943	broad.mit.edu	37	chr1	161697300	161697300	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acgtggaccttctgctccgaGaaatgcagctgctcaaaggc	11	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:161697300G>T	ENST00000367948.2	+	8	1344	c.1129G>T	c.(1129-1131)Gaa>Taa	p.E377*	FCRLB_ENST00000367946.3_3'UTR|FCRLB_ENST00000392158.1_Nonsense_Mutation_p.E377*|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000367945.1_3'UTR|FCRLB_ENST00000495397.1_3'UTR			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	377					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)			TCTGCTCCGAGAAATGCAGCT	0.677																																						ENST00000367948.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1129-1131)Gaa>Taa		Fc receptor-like B							40	45	44					1																	161697300		2203	4300	6503	SO:0001587	stop_gained	127943					endoplasmic reticulum		g.chr1:161697300G>T	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26431	protein-coding gene	gene with protein product		609251	"Fc receptor-like and mucin-like 2"	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.1129G>T	1.37:g.161697300G>T	ENSP00000356925:p.Glu377*		Somatic				FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000392158.1_Nonsense_Mutation_p.E377*|FCRLB_ENST00000367946.3_3'UTR|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367945.1_3'UTR|FCRLB_ENST00000495397.1_3'UTR	p.E377*			WXS	Illumina GAIIx	Phase_I	Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		8	1344	+	all_hematologic(112;0.0359)		377					A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Nonsense_Mutation	SNP	ENST00000367948.2	37	c.1129G>T	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	G	38	6.714785	0.97784	.	.	ENSG00000162746	ENST00000367948;ENST00000392158	.	.	.	4.27	3.35	0.38373	.	0.000000	0.44483	D	0.000456	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	7.8965	0.29710	0.1136:0.0:0.8864:0.0	.	.	.	.	X	377	.	ENSP00000356925:E377X	E	+	1	0	FCRLB	159963924	0.998000	0.40836	0.992000	0.48379	0.872000	0.50106	4.056000	0.57448	1.006000	0.39211	-0.391000	0.06502	GAA		0.677	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		30	59	1	0	8.16721e-17	1	1.09032e-16	30	59					T	161697300	G	T	161697300	4	4	48	1	0	0	0	0	0	1	0	0	5809	943	33	2	1151	2	FCRLB	1	161697300	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1046207	161697300	87553321	273	4741										
ATF6	22926	broad.mit.edu	37	chr1	161882144	161882144	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacaagaccaaaaatgtcaaTtgtgttaccagcaataaaca	5	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:161882144T>G	ENST00000367942.3	+	15	1845	c.1778T>G	c.(1777-1779)aTt>aGt	p.I593S		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	593					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	AAAATGTCAATTGTGTTACCA	0.328																																						ENST00000367942.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(1777-1779)aTt>aGt		activating transcription factor 6							109	95	100					1																	161882144		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161882144T>G	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"basic leucine zipper proteins"	791	protein-coding gene	gene with protein product	"activating transcription factor 6 alpha"	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1778T>G	1.37:g.161882144T>G	ENSP00000356919:p.Ile593Ser		Somatic					p.I593S	NM_007348.3	NP_031374.2	WXS	Illumina GAIIx	Phase_I	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		15	1845	+	all_hematologic(112;0.156)		593					O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.1778T>G	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.035129	0.75617	.	.	ENSG00000118217	ENST00000367942	T	0.15487	2.42	5.1	5.1	0.69264	.	0.067264	0.64402	D	0.000015	T	0.15046	0.0363	L	0.36672	1.1	0.40523	D	0.980857	D	0.67145	0.996	P	0.54544	0.755	T	0.01977	-1.1236	9	0.87932	D	0	-19.9676	13.1419	0.59440	0.0:0.0:0.0:1.0	.	593	P18850	ATF6A_HUMAN	S	593	ENSP00000356919:I593S	ENSP00000356919:I593S	I	+	2	0	ATF6	160148768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.399000	0.66314	2.061000	0.61500	0.533000	0.62120	ATT		0.328	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		10	29	0	0	0	1	0	10	29					G	161882144	T	G	161882144	3	3	48	1	0	0	0	0	1	0	0	0	1084	1493	52	4	1836	4	ATF6	1	161882144	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	184844	161882144	87368477	274	4742										
UAP1	6675	broad.mit.edu	37	chr1	162536047	162536047	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaccagtcttctcaccaaaaGaatgtggatgcacgaatgga	9	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:162536047G>T	ENST00000367925.1	+	1	221	c.189G>T	c.(187-189)aaG>aaT	p.K63N	UAP1_ENST00000271469.3_Missense_Mutation_p.K63N|UAP1_ENST00000367926.4_Missense_Mutation_p.K63N|UAP1_ENST00000367924.1_Missense_Mutation_p.K63N			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	63					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTCACCAAAAGAATGTGGATG	0.478																																						ENST00000271469.3																			0				breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22						c.(187-189)aaG>aaT		UDP-N-acteylglucosamine pyrophosphorylase 1							92	82	86					1																	162536047		2203	4300	6503	SO:0001583	missense	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162536047G>T	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.189G>T	1.37:g.162536047G>T	ENSP00000356902:p.Lys63Asn		Somatic				UAP1_ENST00000367925.1_Missense_Mutation_p.K63N|UAP1_ENST00000367924.1_Missense_Mutation_p.K63N|UAP1_ENST00000367926.4_Missense_Mutation_p.K63N	p.K63N			WXS	Illumina GAIIx	Phase_I	Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		2	491	+	all_hematologic(112;0.115)		63					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37	c.189G>T		.	.	.	.	.	.	.	.	.	.	G	12.08	1.830613	0.32329	.	.	ENSG00000117143	ENST00000412525;ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23	5.3	1.89	0.25635	.	0.106317	0.64402	D	0.000007	T	0.02083	0.0065	N	0.04203	-0.255	0.32000	N	0.6035349999999999	B	0.16396	0.017	B	0.20384	0.029	T	0.47420	-0.9119	9	0.23891	T	0.37	-10.7503	7.9455	0.29985	0.3233:0.0:0.6767:0.0	.	63	Q16222-2	.	N	63	ENSP00000395648:K63N;ENSP00000356903:K63N;ENSP00000271469:K63N;ENSP00000356902:K63N;ENSP00000356901:K63N	ENSP00000271469:K63N	K	+	3	2	UAP1	160802671	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	0.888000	0.28268	0.078000	0.16900	0.591000	0.81541	AAG		0.478	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		14	15	1	0	1.41608e-15	1	1.86784e-15	14	15					T	162536047	G	T	162536047	3	4	48	1	0	0	0	0	1	0	0	0	16840	933	33	2	191	2	UAP1	1	162536047	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	653903	162536047	86714574	275	4743										
PBX1	5087	broad.mit.edu	37	chr1	164761784	164761784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccacagacccccagctgatgCggctggacaacatgctgtta	10	14	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:164761784C>T	ENST00000420696.2	+	3	507	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	PBX1_ENST00000540246.1_Missense_Mutation_p.R2W|PBX1_ENST00000540236.1_Missense_Mutation_p.R107W|PBX1_ENST00000559240.1_Missense_Mutation_p.R107W|PBX1_ENST00000367897.1_Missense_Mutation_p.R107W|PBX1_ENST00000401534.1_Missense_Mutation_p.R107W|PBX1_ENST00000560641.1_Missense_Mutation_p.R2W	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	107					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CCAGCTGATGCGGCTGGACAA	0.627			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"																																	ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"L, M"	"TCF3, EWSR1"		"pre B-ALL, myoepithelioma"	EWSR1/PBX1(3)	0				large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(319-321)Cgg>Tgg		pre-B-cell leukemia homeobox 1							33	36	35					1																	164761784		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.chr1:164761784C>T	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"Homeoboxes / TALE class"	8632	protein-coding gene	gene with protein product		176310	"pre-B-cell leukemia transcription factor 1"				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.319C>T	1.37:g.164761784C>T	ENSP00000405890:p.Arg107Trp		Somatic				PBX1_ENST00000367897.1_Missense_Mutation_p.R107W|PBX1_ENST00000401534.1_Missense_Mutation_p.R107W|PBX1_ENST00000560641.1_Missense_Mutation_p.R2W|PBX1_ENST00000559240.1_Missense_Mutation_p.R107W|PBX1_ENST00000540246.1_Missense_Mutation_p.R2W|PBX1_ENST00000540236.1_Missense_Mutation_p.R107W	p.R107W	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			3	507	+			107					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.319C>T	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314983	0.81358	.	.	ENSG00000185630	ENST00000340699;ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534;ENST00000540246	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.5	4.56	0.56223	PBX (1);	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	M	0.87547	2.89	0.09310	N	1.0	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	0.74780	-0.3549	9	0.87932	D	0	-9.3891	13.5638	0.61806	0.2824:0.7176:0.0:0.0	.	107;107;107;107	A8K5V0;F5H4U9;P40424;Q53YC7	.;.;PBX1_HUMAN;.	W	107;107;107;107;107;2	ENSP00000341455:R107W;ENSP00000405890:R107W;ENSP00000356872:R107W;ENSP00000439943:R107W;ENSP00000384856:R107W;ENSP00000440869:R2W	ENSP00000341455:R107W	R	+	1	2	PBX1	163028408	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	1.723000	0.38053	1.233000	0.43693	0.563000	0.77884	CGG		0.627	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		23	26	0	0	0	1	0	23	26					T	164761784	C	T	164761784	3	4	48	1	0	0	0	0	1	0	0	0	11501	759	27	1	329	1	PBX1	1	164761784	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2225737	164761784	84488837	276	4744										
UCK2	7371	broad.mit.edu	37	chr1	165860500	165860500	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcattctcaaaacactcaaAgaaatcactgaagggaaaac	5	10	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:165860500A>C	ENST00000367879.4	+	3	600	c.297A>C	c.(295-297)aaA>aaC	p.K99N	UCK2_ENST00000372212.4_Missense_Mutation_p.K99N	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	99					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)					AAACACTCAAAGAAATCACTG	0.403																																						ENST00000367879.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(295-297)aaA>aaC		uridine-cytidine kinase 2							114	113	113					1																	165860500		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.chr1:165860500A>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.297A>C	1.37:g.165860500A>C	ENSP00000356853:p.Lys99Asn		Somatic				UCK2_ENST00000372212.4_Missense_Mutation_p.K99N	p.K99N	NM_012474.4	NP_036606.2	WXS	Illumina GAIIx	Phase_I	Q9BZX2	UCK2_HUMAN			3	600	+	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		99					Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	SNP	ENST00000367879.4	37	c.297A>C	CCDS1252.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.249973	0.39797	.	.	ENSG00000143179	ENST00000367879;ENST00000372212	.	.	.	5.22	2.92	0.33932	Phosphoribulokinase/uridine kinase (1);	0.229124	0.46442	D	0.000286	T	0.25121	0.0610	L	0.48218	1.51	0.46542	D	0.999099	B	0.21147	0.052	B	0.24394	0.053	T	0.08207	-1.0733	8	0.44086	T	0.13	-24.4626	7.5261	0.27656	0.8215:0.0:0.1785:0.0	.	99	Q9BZX2	UCK2_HUMAN	N	99	.	ENSP00000356853:K99N	K	+	3	2	UCK2	164127124	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.468000	0.35332	0.942000	0.37525	0.528000	0.53228	AAA		0.403	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		14	40	0	0	0	1	0	14	40					C	165860500	A	C	165860500	3	2	48	1	0	0	0	0	1	0	0	0	16939	69	3	4	307	4	UCK2	1	165860500	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1098716	165860500	83390121	277	4745										
MAEL	84944	broad.mit.edu	37	chr1	166974561	166974561	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggatctaccaacaaaaatttCtcaaggagccctctaagact	6	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:166974561C>A	ENST00000367872.4	+	8	1016	c.772C>A	c.(772-774)Ctc>Atc	p.L258I	RNA5SP65_ENST00000363166.1_RNA|MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.L227I	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	258					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACAAAAATTTCTCAAGGAGCC	0.398																																						ENST00000367872.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						c.(772-774)Ctc>Atc		maelstrom spermatogenic transposon silencer							73	78	76					1																	166974561		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166974561C>A	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"cancer/testis antigen 128", "spermatogenesis associated 35"	611368	"maelstrom homolog (Drosophila)"			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.772C>A	1.37:g.166974561C>A	ENSP00000356846:p.Leu258Ile		Somatic				MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.L227I	p.L258I	NM_032858.1	NP_116247.1	WXS	Illumina GAIIx	Phase_I	Q96JY0	MAEL_HUMAN			8	1016	+			258					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.772C>A	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825645	0.32237	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.47869	0.85;0.83;0.85	5.66	4.75	0.60458	.	0.324591	0.26193	N	0.025795	T	0.13927	0.0337	N	0.08118	0	0.23765	N	0.996906	B;B	0.32071	0.301;0.355	B;B	0.38225	0.209;0.268	T	0.05920	-1.0856	10	0.42905	T	0.14	.	7.8331	0.29355	0.0:0.7505:0.1634:0.086	.	227;258	E9JVC3;Q96JY0	.;MAEL_HUMAN	I	258;227;227	ENSP00000356846:L258I;ENSP00000356844:L227I;ENSP00000402143:L227I	ENSP00000356844:L227I	L	+	1	0	MAEL	165241185	0.611000	0.26992	0.982000	0.44146	0.989000	0.77384	1.344000	0.33941	1.389000	0.46526	0.591000	0.81541	CTC		0.398	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		14	18	1	0	1.52009e-12	1	1.92208e-12	14	18					A	166974561	C	A	166974561	3	1	48	1	0	0	0	0	1	0	0	0	9163	913	32	2	802	2	MAEL	1	166974561	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1114061	166974561	82276060	278	4746										
MAEL	84944	broad.mit.edu	37	chr1	166985488	166985488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcatgaagaaaatgatattcTcttctgtgctttagctgttt	8	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:166985488T>C	ENST00000367872.4	+	9	1119	c.875T>C	c.(874-876)cTc>cCc	p.L292P	MAEL_ENST00000367870.2_Missense_Mutation_p.L261P|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	292					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AATGATATTCTCTTCTGTGCT	0.348																																						ENST00000367872.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						c.(874-876)cTc>cCc		maelstrom spermatogenic transposon silencer							152	151	151					1																	166985488		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166985488T>C	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"cancer/testis antigen 128", "spermatogenesis associated 35"	611368	"maelstrom homolog (Drosophila)"			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.875T>C	1.37:g.166985488T>C	ENSP00000356846:p.Leu292Pro		Somatic				MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.L261P	p.L292P	NM_032858.1	NP_116247.1	WXS	Illumina GAIIx	Phase_I	Q96JY0	MAEL_HUMAN			9	1119	+			292					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.875T>C	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284831	0.59867	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624;ENST00000537744	T;T;T	0.47528	0.84;0.84;0.89	5.0	5.0	0.66597	.	0.249276	0.28572	N	0.014867	T	0.39911	0.1096	N	0.19112	0.55	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.72982	0.972;0.979	T	0.39840	-0.9594	10	0.41790	T	0.15	.	11.0231	0.47730	0.0:0.0:0.0:1.0	.	261;292	E9JVC3;Q96JY0	.;MAEL_HUMAN	P	292;261;261;14	ENSP00000356846:L292P;ENSP00000356844:L261P;ENSP00000402143:L261P	ENSP00000356844:L261P	L	+	2	0	MAEL	165252112	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.982000	0.56909	2.111000	0.64477	0.482000	0.46254	CTC		0.348	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		4	55	0	0	0	1	0	4	55					C	166985488	T	C	166985488	3	2	48	1	0	0	0	0	1	0	0	0	9163	1551	54	4	909	4	MAEL	1	166985488	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	10927	166985488	82265133	279	4747										
MAEL	84944	broad.mit.edu	37	chr1	166991017	166991017	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccagcaatatccacaaattCtccaactgtgacacttcact	3	14	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:166991017C>A	ENST00000367872.4	+	12	1474	c.1230C>A	c.(1228-1230)ttC>ttA	p.F410L	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.F379L	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	410					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TCCACAAATTCTCCAACTGTG	0.403																																						ENST00000367872.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						c.(1228-1230)ttC>ttA		maelstrom spermatogenic transposon silencer							145	142	143					1																	166991017		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166991017C>A	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"cancer/testis antigen 128", "spermatogenesis associated 35"	611368	"maelstrom homolog (Drosophila)"			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.1230C>A	1.37:g.166991017C>A	ENSP00000356846:p.Phe410Leu		Somatic				MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.F379L	p.F410L	NM_032858.1	NP_116247.1	WXS	Illumina GAIIx	Phase_I	Q96JY0	MAEL_HUMAN			12	1474	+			410					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.1230C>A	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234865	0.39498	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000537744	T;T	0.38722	1.13;1.12	5.04	5.04	0.67666	.	0.226649	0.31772	N	0.007094	T	0.14184	0.0343	N	0.12182	0.205	0.35900	D	0.830347	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.04153	-1.0973	10	0.44086	T	0.13	.	13.7718	0.63029	0.0:1.0:0.0:0.0	.	379;410	E9JVC3;Q96JY0	.;MAEL_HUMAN	L	410;379;132	ENSP00000356846:F410L;ENSP00000356844:F379L	ENSP00000356844:F379L	F	+	3	2	MAEL	165257641	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.519000	0.35888	2.614000	0.88457	0.655000	0.94253	TTC		0.403	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		33	47	1	0	4.4194e-11	1	5.4833e-11	33	47					A	166991017	C	A	166991017	3	1	48	1	0	0	0	0	1	0	0	0	9163	912	32	2	1276	2	MAEL	1	166991017	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5529	166991017	82259604	280	4748										
ADCY10	55811	broad.mit.edu	37	chr1	167817657	167817657	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaccacttgtgaggtgacaGacttcttcactttccttatc	6	12	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:167817657G>T	ENST00000367851.4	-	19	2563	c.2379C>A	c.(2377-2379)gtC>gtA	p.V793V	ADCY10_ENST00000545172.1_Silent_p.V640V|ADCY10_ENST00000367848.1_Silent_p.V701V	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	793					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)	p.V793V(1)		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						TGAGGTGACAGACTTCTTCAC	0.433																																						ENST00000367848.1																			1	Substitution - coding silent(1)	p.V793V(1)	lung(1)	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.(2101-2103)gtC>gtA		adenylate cyclase 10 (soluble)							111	106	108					1																	167817657		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.chr1:167817657G>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.2379C>A	1.37:g.167817657G>T			Somatic				ADCY10_ENST00000545172.1_Silent_p.V640V|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Silent_p.V793V	p.V701V			WXS	Illumina GAIIx	Phase_I	Q96PN6	ADCYA_HUMAN			19	2600	-			793					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.2103C>A	CCDS1265.1																																																																																				0.433	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		7	45	1	0	5.18039e-06	1	5.75679e-06	7	45					T	167817657	G	T	167817657	2	4	48	1	0	0	0	0	0	0	0	1	293	929	33	2		2	ADCY10	1	167817657	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	826640	167817657	81432964	281	4749										
ADCY10	55811	broad.mit.edu	37	chr1	167844384	167844384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctacccagcaaagggtaatCctcctttctgttgcagatga	8	12	1	2	rs559581965		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:167844384C>T	ENST00000367851.4	-	13	1631	c.1447G>A	c.(1447-1449)Gat>Aat	p.D483N	ADCY10_ENST00000545172.1_Missense_Mutation_p.D330N|ADCY10_ENST00000367848.1_Missense_Mutation_p.D391N	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	483					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)	p.D483N(1)		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						AAAGGGTAATCCTCCTTTCTG	0.393																																						ENST00000367848.1																			1	Substitution - Missense(1)	p.D483N(1)	lung(1)	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.(1171-1173)Gat>Aat		adenylate cyclase 10 (soluble)							111	105	107					1																	167844384		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.chr1:167844384C>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.1447G>A	1.37:g.167844384C>T	ENSP00000356825:p.Asp483Asn		Somatic				ADCY10_ENST00000545172.1_Missense_Mutation_p.D330N|ADCY10_ENST00000367851.4_Missense_Mutation_p.D483N	p.D391N			WXS	Illumina GAIIx	Phase_I	Q96PN6	ADCYA_HUMAN			13	1668	-			483			Guanylate cyclase 2.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.1171G>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	0.381	-0.928607	0.02359	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.30448	1.53;1.53;1.53	6.03	-3.28	0.05033	.	1.184050	0.05782	N	0.608796	T	0.02649	0.0080	N	0.04508	-0.205	0.23168	N	0.998184	B;B;B	0.34015	0.435;0.241;0.156	B;B;B	0.29785	0.107;0.069;0.023	T	0.20840	-1.0263	9	0.17369	T	0.5	0.2935	1.524	0.02521	0.1153:0.3121:0.2254:0.3472	.	330;391;483	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	N	330;483;391	ENSP00000441992:D330N;ENSP00000356825:D483N;ENSP00000356822:D391N	ENSP00000356822:D391N	D	-	1	0	ADCY10	166111008	0.001000	0.12720	0.009000	0.14445	0.067000	0.16453	-0.629000	0.05508	-0.603000	0.05767	-0.175000	0.13238	GAT		0.393	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		20	37	0	0	0	1	0	20	37					T	167844384	C	T	167844384	3	4	48	1	0	0	0	0	1	0	0	0	293	855	30	3	3469	3	ADCY10	1	167844384	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	26727	167844384	81406237	282	4750										
DCAF6	55827	broad.mit.edu	37	chr1	167944083	167944083	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttaggttttgacaacaattCgttcagggcaccgagcaaac	9	9	1	1	rs543895185		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:167944083C>T	ENST00000312263.6	+	4	472	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C	DCAF6_ENST00000367843.3_Missense_Mutation_p.R90C|DCAF6_ENST00000367840.3_Missense_Mutation_p.R90C|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000432587.2_Missense_Mutation_p.R59C	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	90					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GACAACAATTCGTTCAGGGCA	0.313													C|||	1	0.000199681	0	0	5008	,	,		18333	0		0	False		,,,				2504	0.001					ENST00000367840.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(268-270)Cgt>Tgt		DDB1 and CUL4 associated factor 6							86	82	83					1																	167944083		2203	4300	6503	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167944083C>T	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.268C>T	1.37:g.167944083C>T	ENSP00000311949:p.Arg90Cys		Somatic				DCAF6_ENST00000312263.6_Missense_Mutation_p.R90C|DCAF6_ENST00000432587.2_Missense_Mutation_p.R59C|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_Missense_Mutation_p.R90C	p.R90C	NM_001198956.1	NP_001185885.1	WXS	Illumina GAIIx	Phase_I	Q58WW2	DCAF6_HUMAN			4	362	+			90					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.268C>T	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648628	0.87958	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.112708	0.64402	D	0.000007	D	0.87716	0.6247	M	0.72894	2.215	0.80722	D	1.000000	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.997;0.997	D	0.88546	0.3113	9	0.62326	D	0.03	.	18.489	0.90839	0.0:1.0:0.0:0.0	.	59;90;90;90	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	C	90;59;90;90	ENSP00000356817:R90C;ENSP00000396238:R59C;ENSP00000311949:R90C;ENSP00000356814:R90C	ENSP00000311949:R90C	R	+	1	0	DCAF6	166210707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.232000	0.78116	2.413000	0.81919	0.555000	0.69702	CGT		0.313	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		26	32	0	0	0	1	0	26	32					T	167944083	C	T	167944083	3	4	48	1	0	0	0	0	1	0	0	0	4276	884	31	1	282	1	DCAF6	1	167944083	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	99699	167944083	81306538	283	4751										
XCL2	6846	broad.mit.edu	37	chr1	168513198	168513198	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagggccaggatgagaagtCtcatggctgaggtcccgctg	17	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:168513198C>A	ENST00000367819.2	-	1	37	c.5G>T	c.(4-6)aGa>aTa	p.R2I		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	2					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					GATGAGAAGTCTCATGGCTGA	0.522																																						ENST00000367819.2																			0				large_intestine(1)|lung(6)|ovary(1)	8						c.(4-6)aGa>aTa		chemokine (C motif) ligand 2							115	104	108					1																	168513198		2203	4300	6503	SO:0001583	missense	6846				blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	g.chr1:168513198C>A	BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"Endogenous ligands"	10646	protein-coding gene	gene with protein product		604828	"small inducible cytokine subfamily C, member 2"	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.5G>T	1.37:g.168513198C>A	ENSP00000356793:p.Arg2Ile		Somatic					p.R2I	NM_003175.3	NP_003166.1	WXS	Illumina GAIIx	Phase_I	Q9UBD3	XCL2_HUMAN			1	37	-	all_hematologic(923;0.215)		2						Missense_Mutation	SNP	ENST00000367819.2	37	c.5G>T	CCDS1273.1	.	.	.	.	.	.	.	.	.	.	C	8.061	0.768215	0.15983	.	.	ENSG00000143185	ENST00000367819	T	0.03772	3.81	2.49	0.508	0.16972	.	0.254613	0.33792	N	0.004554	T	0.01523	0.0049	L	0.56769	1.78	0.27819	N	0.941877	P	0.42757	0.789	B	0.33521	0.165	T	0.46693	-0.9173	9	0.72032	D	0.01	-15.6353	4.1214	0.10108	0.0:0.6258:0.0:0.3742	.	2	Q9UBD3	XCL2_HUMAN	I	2	ENSP00000356793:R2I	ENSP00000356793:R2I	R	-	2	0	XCL2	166779822	0.924000	0.31332	0.871000	0.34182	0.120000	0.20174	0.252000	0.18278	0.367000	0.24454	0.195000	0.17529	AGA		0.522	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083613.1	NM_003175		20	48	1	0	7.41877e-09	1	8.8016e-09	20	48					A	168513198	C	A	168513198	3	1	48	1	0	0	0	0	1	0	0	0	17439	913	32	2	351	2	XCL2	1	168513198	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	569115	168513198	80737423	284	4752										
F5	2153	broad.mit.edu	37	chr1	169511762	169511762	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgttcttgacttttgaattCtccagcaccaagtgaaagta	7	8	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:169511762C>A	ENST00000367797.3	-	13	2767	c.2566G>T	c.(2566-2568)Gaa>Taa	p.E856*	F5_ENST00000367796.3_Nonsense_Mutation_p.E861*	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	856	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)	CTTTTGAATTCTCCAGCACCA	0.448																																						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.(2581-2583)Gaa>Taa		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						185	174	178					1																	169511762		2203	4300	6503	SO:0001587	stop_gained	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511762C>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.2566G>T	1.37:g.169511762C>A	ENSP00000356771:p.Glu856*		Somatic				F5_ENST00000367797.3_Nonsense_Mutation_p.E856*	p.E861*			WXS	Illumina GAIIx	Phase_I	P12259	FA5_HUMAN			13	2782	-	all_hematologic(923;0.208)		856			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Nonsense_Mutation	SNP	ENST00000367797.3	37	c.2581G>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	38	7.155068	0.98099	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	.	.	.	5.84	0.789	0.18607	.	0.794053	0.11653	N	0.542575	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-3.0334	5.1481	0.14996	0.0:0.5255:0.1548:0.3197	.	.	.	.	X	856;861	.	ENSP00000356770:E861X	E	-	1	0	F5	167778386	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.370000	0.20433	0.104000	0.17725	-0.237000	0.12165	GAA		0.448	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		72	108	1	0	6.5469e-37	1	9.42237e-37	72	108					A	169511762	C	A	169511762	4	1	48	1	0	0	0	0	0	1	0	0	5350	922	32	2	4160	2	F5	1	169511762	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	998564	169511762	79738859	285	4753										
F5	2153	broad.mit.edu	37	chr1	169529841	169529841	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccccgagttgaaatcctcGatcagattttcatgggagta	10	9	2	2	rs563995292	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:169529841G>A	ENST00000367797.3	-	4	738	c.537C>T	c.(535-537)atC>atT	p.I179I	F5_ENST00000546081.1_Silent_p.I42I|F5_ENST00000367796.3_Silent_p.I179I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	179	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGAAATCCTCGATCAGATTTT	0.458													G|||	2	0.000399361	0	0	5008	,	,		17526	0		0	False		,,,				2504	0.002					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.(535-537)atC>atT		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						147	142	144					1																	169529841		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169529841G>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.537C>T	1.37:g.169529841G>A			Somatic				F5_ENST00000546081.1_Silent_p.I42I|F5_ENST00000367797.3_Silent_p.I179I	p.I179I			WXS	Illumina GAIIx	Phase_I	P12259	FA5_HUMAN			4	738	-	all_hematologic(923;0.208)		179			F5/8 type A 1.|Plastocyanin-like 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.537C>T	CCDS1281.1																																																																																				0.458	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		37	68	0	0	0	1	0	37	68					A	169529841	G	A	169529841	2	1	48	1	0	0	0	0	0	0	0	1	5350	1048	37	1		1	F5	1	169529841	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	18079	169529841	79720780	286	4754										
SELP	6403	broad.mit.edu	37	chr1	169578790	169578790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtcccaagttatcacaccGaactatatcggctcctctca	5	15	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:169578790G>A	ENST00000263686.6	-	8	1322	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	SELP_ENST00000367792.2_Missense_Mutation_p.R367W|SELP_ENST00000367793.2_Missense_Mutation_p.R367W|SELP_ENST00000367786.2_Missense_Mutation_p.R367W|SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.R367W|SELP_ENST00000458599.2_Missense_Mutation_p.R367W|SELP_ENST00000367794.2_Missense_Mutation_p.R367W	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	429	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TTATCACACCGAACTATATCG	0.488																																						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.(1285-1287)Cgg>Tgg		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						167	138	148					1																	169578790		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.chr1:169578790G>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1285C>T	1.37:g.169578790G>A	ENSP00000263686:p.Arg429Trp		Somatic				SELP_ENST00000367792.2_Missense_Mutation_p.R367W|SELP_ENST00000367794.2_Missense_Mutation_p.R367W|SELP_ENST00000367788.2_Missense_Mutation_p.R367W|SELP_ENST00000367791.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.R367W|SELP_ENST00000367786.2_Missense_Mutation_p.R367W|SELP_ENST00000458599.2_Missense_Mutation_p.R367W	p.R429W	NM_003005.3	NP_002996.2	WXS	Illumina GAIIx	Phase_I	P16109	LYAM3_HUMAN			8	1322	-	all_hematologic(923;0.208)		429			Sushi 4.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1285C>T	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.29|11.29	1.596485|1.596485	0.28445|0.28445	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367788;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T;T|.	0.66099|.	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19|.	5.74|5.74	0.575|0.575	0.17374|0.17374	Complement control module (2);Sushi/SCR/CCP (3);|.	1.962390|.	0.01965|.	N|.	0.043581|.	T|T	0.17152|0.17152	0.0412|0.0412	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	D;B;D|.	0.71674|.	0.997;0.033;0.998|.	P;B;P|.	0.60345|.	0.873;0.015;0.857|.	T|T	0.27739|0.27739	-1.0065|-1.0065	10|5	0.66056|.	D|.	0.02|.	-0.1187|-0.1187	1.0667|1.0667	0.01612|0.01612	0.2603:0.2251:0.3722:0.1424|0.2603:0.2251:0.3722:0.1424	.|.	429;429;429|.	Q6NUL9;P16109;G3V1U2|.	.;LYAM3_HUMAN;.|.	W|L	429;428;367;429;429;367;367;367;367;367;352|366	ENSP00000263686:R429W;ENSP00000356767:R367W;ENSP00000356768:R367W;ENSP00000356766:R367W;ENSP00000356762:R367W;ENSP00000356760:R367W|.	ENSP00000263686:R429W|.	R|S	-|-	1|2	2|0	SELP|SELP	167845414|167845414	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.060000|0.060000	0.15804|0.15804	-0.726000|-0.726000	0.04936|0.04936	0.791000|0.791000	0.33826|0.33826	0.650000|0.650000	0.86243|0.86243	CGG|TCG		0.488	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		24	45	0	0	0	1	0	24	45					A	169578790	G	A	169578790	3	1	48	1	0	0	0	0	1	0	0	0	14034	1057	37	1	1243	1	SELP	1	169578790	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	48949	169578790	79671831	287	4755										
SELP	6403	broad.mit.edu	37	chr1	169582846	169582846	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattcacattctggcccataGaatccagggtaacaggagca	9	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:169582846G>T	ENST00000263686.6	-	4	604	c.567C>A	c.(565-567)ttC>ttA	p.F189L	SELP_ENST00000367792.2_Missense_Mutation_p.F189L|SELP_ENST00000367793.2_Missense_Mutation_p.F189L|SELP_ENST00000367786.2_Missense_Mutation_p.F189L|SELP_ENST00000367791.2_Missense_Mutation_p.F189L|SELP_ENST00000367788.2_Missense_Mutation_p.F189L|SELP_ENST00000458599.2_Missense_Mutation_p.F189L|SELP_ENST00000367794.2_Missense_Mutation_p.F189L	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	189	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	CTGGCCCATAGAATCCAGGGT	0.448																																						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.(565-567)ttC>ttA		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						129	113	119					1																	169582846		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.chr1:169582846G>T	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.567C>A	1.37:g.169582846G>T	ENSP00000263686:p.Phe189Leu		Somatic				SELP_ENST00000367792.2_Missense_Mutation_p.F189L|SELP_ENST00000367794.2_Missense_Mutation_p.F189L|SELP_ENST00000367788.2_Missense_Mutation_p.F189L|SELP_ENST00000367791.2_Missense_Mutation_p.F189L|SELP_ENST00000367793.2_Missense_Mutation_p.F189L|SELP_ENST00000367786.2_Missense_Mutation_p.F189L|SELP_ENST00000458599.2_Missense_Mutation_p.F189L	p.F189L	NM_003005.3	NP_002996.2	WXS	Illumina GAIIx	Phase_I	P16109	LYAM3_HUMAN			4	604	-	all_hematologic(923;0.208)		189			EGF-like.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.567C>A	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.330442|4.330442	0.81690|0.81690	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T;T;T|.	0.46063|.	0.88;0.88;0.88;0.88;0.88;0.88;0.88|.	5.01|5.01	4.09|4.09	0.47781|0.47781	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);|.	0.238742|.	0.30028|.	N|.	0.010596|.	T|T	0.72661|0.72661	0.3488|0.3488	M|M	0.86028|0.86028	2.79|2.79	0.45914|0.45914	D|D	0.998759|0.998759	D;D;D|.	0.76494|.	0.988;0.975;0.999|.	P;P;D|.	0.76575|.	0.635;0.557;0.988|.	T|T	0.74500|0.74500	-0.3645|-0.3645	10|5	0.46703|.	T|.	0.11|.	-33.7746|-33.7746	12.9341|12.9341	0.58303|0.58303	0.0836:0.0:0.9164:0.0|0.0836:0.0:0.9164:0.0	.|.	189;189;189|.	Q6NUL9;P16109;G3V1U2|.	.;LYAM3_HUMAN;.|.	L|I	189;189;188;189;189;189;189;189;189;189;189;189;174|189	ENSP00000263686:F189L;ENSP00000356767:F189L;ENSP00000356768:F189L;ENSP00000356766:F189L;ENSP00000356765:F189L;ENSP00000356762:F189L;ENSP00000356760:F189L|.	ENSP00000263686:F189L|.	F|L	-|-	3|1	2|2	SELP|SELP	167849470|167849470	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	4.312000|4.312000	0.59154|0.59154	2.759000|2.759000	0.94783|0.94783	0.561000|0.561000	0.74099|0.74099	TTC|CTA		0.448	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		4	77	1	0	0.00909568	1	0.00935351	4	77					T	169582846	G	T	169582846	3	4	48	1	0	0	0	0	1	0	0	0	14034	933	33	2	1977	2	SELP	1	169582846	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4056	169582846	79667775	288	4756										
C1orf112	55732	broad.mit.edu	37	chr1	169776949	169776949	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taggcagagccttaagcaccAgtccataataaaaagccagt	8	10	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:169776949A>G	ENST00000286031.6	+	8	1281	c.581A>G	c.(580-582)cAg>cGg	p.Q194R	C1orf112_ENST00000413811.2_Missense_Mutation_p.Q165R|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.Q194R|C1orf112_ENST00000456684.1_Missense_Mutation_p.Q252R	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	194										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTAAGCACCAGTCCATAATA	0.348																																						ENST00000286031.6																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(580-582)cAg>cGg		chromosome 1 open reading frame 112							137	125	129					1																	169776949		2203	4300	6503	SO:0001583	missense	55732							g.chr1:169776949A>G	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.581A>G	1.37:g.169776949A>G	ENSP00000286031:p.Gln194Arg		Somatic				C1orf112_ENST00000413811.2_Missense_Mutation_p.Q165R|C1orf112_ENST00000359326.4_Missense_Mutation_p.Q194R|C1orf112_ENST00000456684.1_Missense_Mutation_p.Q252R|C1orf112_ENST00000498289.1_3'UTR	p.Q194R	NM_018186.2	NP_060656.2	WXS	Illumina GAIIx	Phase_I	Q9NSG2	CA112_HUMAN			8	1281	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		194					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	c.581A>G	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.718766	0.68844	.	.	ENSG00000000460	ENST00000413811;ENST00000359326;ENST00000456684;ENST00000286031	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.81	5.81	0.92471	.	0.209202	0.51477	D	0.000085	T	0.35480	0.0933	M	0.72118	2.19	0.45852	D	0.998719	B;P	0.43662	0.4;0.814	B;B	0.42214	0.121;0.38	T	0.31861	-0.9928	10	0.46703	T	0.11	-5.5133	14.9888	0.71371	1.0:0.0:0.0:0.0	.	165;194	B4E0A9;Q9NSG2	.;CA112_HUMAN	R	165;194;252;194	ENSP00000389257:Q165R;ENSP00000352276:Q194R;ENSP00000415583:Q252R;ENSP00000286031:Q194R	ENSP00000286031:Q194R	Q	+	2	0	C1orf112	168043573	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.516000	0.90552	2.226000	0.72624	0.377000	0.23210	CAG		0.348	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		24	35	0	0	0	1	0	24	35					G	169776949	A	G	169776949	3	3	48	1	0	0	0	0	1	0	0	0	1987	188	7	4	603	4	C1orf112	1	169776949	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	194103	169776949	79473672	289	4757										
GORAB	92344	broad.mit.edu	37	chr1	170508562	170508562	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttccgagtcatttcactctCacctcccccgttggtgatgg	8	15	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:170508562C>T	ENST00000367763.3	+	2	368	c.348C>T	c.(346-348)ctC>ctT	p.L116L	GORAB_ENST00000367762.1_Silent_p.L116L|GORAB_ENST00000465717.1_3'UTR	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	116						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						ATTTCACTCTCACCTCCCCCG	0.468																																						ENST00000367763.3																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(346-348)ctC>ctT		golgin, RAB6-interacting							113	110	111					1																	170508562		2203	4300	6503	SO:0001819	synonymous_variant	92344					Golgi apparatus|nucleus		g.chr1:170508562C>T	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"gerodermia osteodysplastica"	607983	"SCY1-like 1 binding protein 1"	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.348C>T	1.37:g.170508562C>T			Somatic				GORAB_ENST00000465717.1_3'UTR|GORAB_ENST00000367762.1_Silent_p.L116L	p.L116L	NM_152281.2	NP_689494.2	WXS	Illumina GAIIx	Phase_I	Q5T7V8	GORAB_HUMAN			2	368	+			116					Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Silent	SNP	ENST00000367763.3	37	c.348C>T	CCDS1289.1																																																																																				0.468	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281		23	53	0	0	0	1	0	23	53					T	170508562	C	T	170508562	2	4	48	1	0	0	0	0	0	0	0	1	6582	813	29	3		3	GORAB	1	170508562	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	731613	170508562	78742059	290	4758										
PRRX1	5396	broad.mit.edu	37	chr1	170633455	170633455	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacaccctgcaggcgaaaaaGaacttctccgtcagtcacct	8	14	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:170633455G>A	ENST00000239461.6	+	1	409	c.96G>A	c.(94-96)aaG>aaA	p.K32K	PRRX1_ENST00000367760.3_Silent_p.K32K|PRRX1_ENST00000497230.2_Silent_p.K32K	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	32					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGGCGAAAAAGAACTTCTCCG	0.667																																						ENST00000239461.6																			0				large_intestine(2)|ovary(1)	3						c.(94-96)aaG>aaA		paired related homeobox 1							44	42	43					1																	170633455		2202	4300	6502	SO:0001819	synonymous_variant	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170633455G>A	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"Homeoboxes / PRD class"	9142	protein-coding gene	gene with protein product		167420	"paired mesoderm homeo box 1"	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.96G>A	1.37:g.170633455G>A			Somatic				PRRX1_ENST00000367760.3_Silent_p.K32K|PRRX1_ENST00000497230.2_Silent_p.K32K	p.K32K	NM_022716.2	NP_073207.1	WXS	Illumina GAIIx	Phase_I	P54821	PRRX1_HUMAN			1	409	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		32					B5BUM7|O60807	Silent	SNP	ENST00000239461.6	37	c.96G>A	CCDS1290.1																																																																																				0.667	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		4	30	0	0	0	1	0	4	30					A	170633455	G	A	170633455	2	1	48	1	0	0	0	0	0	0	0	1	12624	933	33	3		3	PRRX1	1	170633455	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	124893	170633455	78617166	291	4759										
BAT2L2	23215	broad.mit.edu	37	chr1	171511148	171511148	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgagaggcgagagagggatGaaaaaaaaaatgctgacttg	14	3	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:171511148G>T	ENST00000338920.4	+	16	4774	c.4537G>T	c.(4537-4539)Gaa>Taa	p.E1513*	PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.E1513*|PRRC2C_ENST00000367742.3_Nonsense_Mutation_p.E1515*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.E1515*	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1513					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGAGAGGGATGAAAAAAAAAA	0.388																																						ENST00000367742.3																			0											c.(4543-4545)Gaa>Taa		proline-rich coiled-coil 2C							61	65	64					1																	171511148		2203	4300	6503	SO:0001587	stop_gained	23215						protein C-terminus binding	g.chr1:171511148G>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4537G>T	1.37:g.171511148G>T	ENSP00000343629:p.Glu1513*		Somatic				PRRC2C_ENST00000338920.4_Nonsense_Mutation_p.E1513*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.E1515*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.E1513*	p.E1515*			WXS	Illumina GAIIx	Phase_I	Q9Y520	PRC2C_HUMAN			16	4785	+			1513					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Nonsense_Mutation	SNP	ENST00000338920.4	37	c.4543G>T	CCDS1296.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	47|47	13.158461|13.158461	0.99724|0.99724	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080|ENST00000495585	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.47455|.	D|.	0.000221|.	.|T	.|0.75317	.|0.3833	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73190	.|-0.4061	.|3	0.39692|.	T|.	0.17|.	.|.	19.7924|19.7924	0.96464|0.96464	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1515;1514;1513;1515;1513;1270|60	.|.	ENSP00000343629:E1513X|.	E|M	+|+	1|3	0|0	PRRC2C|PRRC2C	169777772|169777772	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.466000|9.466000	0.97665|0.97665	2.660000|2.660000	0.90430|0.90430	0.650000|0.650000	0.86243|0.86243	GAA|ATG		0.388	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		19	44	1	0	3.32936e-07	1	3.80431e-07	19	44					T	171511148	G	T	171511148	4	4	48	1	0	0	0	0	0	1	0	0	1321	1291	45	2	4595	2	BAT2L2	1	171511148	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	877693	171511148	77739473	292	4760										
PIGC	5279	broad.mit.edu	37	chr1	172411565	172411565	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caccagataaccacaaaaacAcaaacactgcacagctgctg	5	14	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:172411565A>G	ENST00000367728.1	-	1	1661	c.198T>C	c.(196-198)tgT>tgC	p.C66C	C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000258324.1_Silent_p.C66C|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000344529.4_Silent_p.C66C			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	66					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CCACAAAAACACAAACACTGC	0.478																																						ENST00000367728.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						c.(196-198)tgT>tgC		phosphatidylinositol glycan anchor biosynthesis, class C							119	119	119					1																	172411565		2203	4300	6503	SO:0001819	synonymous_variant	5279				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr1:172411565A>G	BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"Phosphatidylinositol glycan anchor biosynthesis"	8960	protein-coding gene	gene with protein product	"phosphatidylinositol N-acetylglucosaminyltransferase"	601730	"phosphatidylinositol glycan, class C"			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.198T>C	1.37:g.172411565A>G			Somatic				PIGC_ENST00000344529.4_Silent_p.C66C|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000258324.1_Silent_p.C66C|C1orf105_ENST00000367727.4_Intron	p.C66C			WXS	Illumina GAIIx	Phase_I	Q92535	PIGC_HUMAN			1	1661	-			66					O14491	Silent	SNP	ENST00000367728.1	37	c.198T>C	CCDS1302.1																																																																																				0.478	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084068.1	NM_153747		48	112	0	0	0	1	0	48	112					G	172411565	A	G	172411565	2	3	48	1	0	0	0	0	0	0	0	1	11895	157	6	4		4	PIGC	1	172411565	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	900417	172411565	76839056	293	4761										
PIGC	5279	broad.mit.edu	37	chr1	172411630	172411630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacagcccaatattggtattTccgagcatggatgtttttcc	8	10	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:172411630T>C	ENST00000367728.1	-	1	1596	c.133A>G	c.(133-135)Aaa>Gaa	p.K45E	C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000258324.1_Missense_Mutation_p.K45E|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000344529.4_Missense_Mutation_p.K45E			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	45					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TATTGGTATTTCCGAGCATGG	0.488																																						ENST00000367728.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						c.(133-135)Aaa>Gaa		phosphatidylinositol glycan anchor biosynthesis, class C							119	119	119					1																	172411630		2203	4300	6503	SO:0001583	missense	5279				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr1:172411630T>C	BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"Phosphatidylinositol glycan anchor biosynthesis"	8960	protein-coding gene	gene with protein product	"phosphatidylinositol N-acetylglucosaminyltransferase"	601730	"phosphatidylinositol glycan, class C"			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.133A>G	1.37:g.172411630T>C	ENSP00000356702:p.Lys45Glu		Somatic				PIGC_ENST00000344529.4_Missense_Mutation_p.K45E|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000258324.1_Missense_Mutation_p.K45E|C1orf105_ENST00000367727.4_Intron	p.K45E			WXS	Illumina GAIIx	Phase_I	Q92535	PIGC_HUMAN			1	1596	-			45					O14491	Missense_Mutation	SNP	ENST00000367728.1	37	c.133A>G	CCDS1302.1	.	.	.	.	.	.	.	.	.	.	T	9.419	1.082456	0.20309	.	.	ENSG00000135845	ENST00000344529;ENST00000367728;ENST00000258324	T;T;T	0.43294	0.95;0.95;0.95	5.35	5.35	0.76521	.	0.108322	0.64402	D	0.000006	T	0.14013	0.0339	L	0.35341	1.055	0.80722	D	1	B	0.31125	0.309	B	0.31946	0.138	T	0.04268	-1.0964	10	0.08837	T	0.75	-9.2473	10.0795	0.42381	0.0:0.0:0.2783:0.7217	.	45	Q92535	PIGC_HUMAN	E	45	ENSP00000356701:K45E;ENSP00000356702:K45E;ENSP00000258324:K45E	ENSP00000258324:K45E	K	-	1	0	PIGC	170678253	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.965000	0.56788	2.031000	0.59945	0.533000	0.62120	AAA		0.488	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084068.1	NM_153747		61	106	0	0	0	1	0	61	106					C	172411630	T	C	172411630	3	2	48	1	0	0	0	0	1	0	0	0	11895	1792	62	4	764	4	PIGC	1	172411630	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	65	172411630	76838991	294	4762										
FASLG	356	broad.mit.edu	37	chr1	172633520	172633520	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggagctgaggaaagtggcCcatttaacaggtctgtatct	12	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:172633520C>T	ENST00000367721.2	+	3	625	c.441C>T	c.(439-441)gcC>gcT	p.A147A	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	147					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)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GGAAAGTGGCCCATTTAACAG	0.428																																					Ovarian(28;486 876 30334 44033)	ENST00000367721.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						c.(439-441)gcC>gcT		Fas ligand (TNF superfamily, member 6)							61	60	60					1																	172633520		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:172633520C>T	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.441C>T	1.37:g.172633520C>T			Somatic				FASLG_ENST00000340030.3_3'UTR	p.A147A	NM_000639.1	NP_000630.1	WXS	Illumina GAIIx	Phase_I	P48023	TNFL6_HUMAN			3	625	+			147					Q9BZP9	Silent	SNP	ENST00000367721.2	37	c.441C>T	CCDS1304.1																																																																																				0.428	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			4	26	0	0	0	1	0	4	26					T	172633520	C	T	172633520	2	4	48	1	0	0	0	0	0	0	0	1	5690	610	22	3		3	FASLG	1	172633520	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	221890	172633520	76617101	295	4763										
TNFSF18	8995	broad.mit.edu	37	chr1	173020022	173020022	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttaaaggcatattttccaaGtggctcaaacacatttttgg	7	8	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173020022G>T	ENST00000404377.3	-	1	81	c.81C>A	c.(79-81)caC>caA	p.H27Q	RP1-15D23.2_ENST00000432694.2_lincRNA|TNFSF18_ENST00000239468.2_Missense_Mutation_p.H5Q	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	27					cell-cell signaling (GO:0007267)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of T cell proliferation (GO:0042129)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						TATTTTCCAAGTGGCTCAAAC	0.383																																						ENST00000404377.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						c.(79-81)caC>caA		tumor necrosis factor (ligand) superfamily, member 18							77	75	75					1																	173020022		2203	4300	6503	SO:0001583	missense	8995				anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr1:173020022G>T	AF117713	CCDS1305.2	1q23	2008-02-05			ENSG00000120337	ENSG00000120337		"Tumor necrosis factor (ligand) superfamily"	11932	protein-coding gene	gene with protein product		603898				10037686, 10074428	Standard	NM_005092		Approved	AITRL, TL6, hGITRL	uc001giu.2	Q9UNG2	OTTHUMG00000034835	ENST00000404377.3:c.81C>A	1.37:g.173020022G>T	ENSP00000385470:p.His27Gln		Somatic				TNFSF18_ENST00000239468.2_Missense_Mutation_p.H5Q|RP1-15D23.2_ENST00000432694.1_RNA	p.H27Q	NM_005092.3	NP_005083.2	WXS	Illumina GAIIx	Phase_I	Q9UNG2	TNF18_HUMAN			1	81	-			27					A9IQG8|O95852|Q6ISV1	Missense_Mutation	SNP	ENST00000404377.3	37	c.81C>A	CCDS1305.2	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943322	0.53079	.	.	ENSG00000120337	ENST00000404377;ENST00000239468	.	.	.	5.3	4.32	0.51571	.	0.556209	0.16257	N	0.222457	T	0.13970	0.0338	N	0.19112	0.55	0.24148	N	0.995701	B	0.22800	0.075	B	0.14023	0.01	T	0.09037	-1.0693	9	0.59425	D	0.04	-4.0873	10.8432	0.46728	0.0:0.2443:0.7557:0.0	.	27	Q9UNG2	TNF18_HUMAN	Q	27;5	.	ENSP00000239468:H5Q	H	-	3	2	TNFSF18	171286645	0.992000	0.36948	0.545000	0.28153	0.919000	0.55068	2.522000	0.45572	2.645000	0.89757	0.591000	0.81541	CAC		0.383	TNFSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084268.2	NM_005092		16	15	1	0	0.000308642	1	0.000328443	16	15					T	173020022	G	T	173020022	3	4	48	1	0	0	0	0	1	0	0	0	16324	1020	36	5	530	5	TNFSF18	1	173020022	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	386502	173020022	76230599	296	4764										
TNFSF4	7292	broad.mit.edu	37	chr1	173155898	173155898	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagaagtagcccttcagggaGatgagataaaacccatcaca	10	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173155898G>A	ENST00000281834.3	-	3	445	c.309C>T	c.(307-309)atC>atT	p.I103I	TNFSF4_ENST00000488053.1_5'Flank|TNFSF4_ENST00000367718.1_Silent_p.I53I	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	103					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of immunoglobulin secretion (GO:0051024)|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-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CCTTCAGGGAGATGAGATAAA	0.458																																						ENST00000281834.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						c.(307-309)atC>atT		tumor necrosis factor (ligand) superfamily, member 4							110	114	113					1																	173155898		2203	4300	6503	SO:0001819	synonymous_variant	7292				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity	g.chr1:173155898G>A	D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11934	protein-coding gene	gene with protein product		603594	"tax-transcriptionally activated glycoprotein 1, 34kD"	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.309C>T	1.37:g.173155898G>A			Somatic				TNFSF4_ENST00000367718.1_Silent_p.I53I	p.I103I	NM_003326.3	NP_003317.1	WXS	Illumina GAIIx	Phase_I	P23510	TNFL4_HUMAN			3	445	-			103					Q5JZA5|Q8IV74|Q9HCN9	Silent	SNP	ENST00000281834.3	37	c.309C>T	CCDS1306.1																																																																																				0.458	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084271.1			26	29	0	0	0	1	0	26	29					A	173155898	G	A	173155898	2	1	48	1	0	0	0	0	0	0	0	1	16325	932	33	3		3	TNFSF4	1	173155898	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	135876	173155898	76094723	297	4765										
KLHL20	27252	broad.mit.edu	37	chr1	173726179	173726179	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatgatccacagaccaatgaAtggagaatggtggcttcaat	10	7	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173726179A>C	ENST00000209884.4	+	7	1168	c.1032A>C	c.(1030-1032)gaA>gaC	p.E344D	KLHL20_ENST00000546011.1_Missense_Mutation_p.E155D	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	344					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						AGACCAATGAATGGAGAATGG	0.458																																					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.(1030-1032)gaA>gaC		kelch-like family member 20							255	222	233					1																	173726179		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.chr1:173726179A>C	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.1032A>C	1.37:g.173726179A>C	ENSP00000209884:p.Glu344Asp		Somatic				KLHL20_ENST00000546011.1_Missense_Mutation_p.E155D	p.E344D	NM_014458.3	NP_055273.2	WXS	Illumina GAIIx	Phase_I	Q9Y2M5	KLH20_HUMAN			7	1168	+			344					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.1032A>C	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.806206	0.31961	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.79454	-1.27;-1.27	5.43	0.399	0.16325	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.63169	1.94	0.58432	D	0.999991	B;B	0.16802	0.019;0.005	B;B	0.19666	0.026;0.022	T	0.50717	-0.8795	10	0.32370	T	0.25	.	8.8921	0.35441	0.354:0.0:0.646:0.0	.	155;344	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	D	155;344	ENSP00000443121:E155D;ENSP00000209884:E344D	ENSP00000209884:E344D	E	+	3	2	KLHL20	171992802	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.640000	0.46579	0.068000	0.16574	0.528000	0.53228	GAA		0.458	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		7	101	0	0	0	1	0	7	101					C	173726179	A	C	173726179	3	2	48	1	0	0	0	0	1	0	0	0	8384	98	4	4	1054	4	KLHL20	1	173726179	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	570281	173726179	75524442	298	4766										
DARS2	55157	broad.mit.edu	37	chr1	173794441	173794441	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagaaggaccacccaaccgaTctggggttctctctacagaa	9	13	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173794441T>C	ENST00000361951.4	+	1	801	c.74T>C	c.(73-75)aTc>aCc	p.I25T	CENPL_ENST00000367710.3_5'Flank|CENPL_ENST00000356198.2_5'Flank|CENPL_ENST00000345664.6_5'Flank|CENPL_ENST00000495275.1_5'Flank|DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	25					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	ACCCAACCGATCTGGGGTTCT	0.473																																						ENST00000361951.4																			0				breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30						c.(73-75)aTc>aCc		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						102	104	103					1																	173794441		2203	4300	6503	SO:0001583	missense	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173794441T>C	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	25538	protein-coding gene	gene with protein product	"aspartate tRNA ligase 2, mitochondrial"	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.74T>C	1.37:g.173794441T>C	ENSP00000355086:p.Ile25Thr		Somatic				DARS2_ENST00000239457.5_5'UTR	p.I25T	NM_018122.4	NP_060592.2	WXS	Illumina GAIIx	Phase_I	Q6PI48	SYDM_HUMAN			1	801	+			25						Missense_Mutation	SNP	ENST00000361951.4	37	c.74T>C	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.697772	0.30142	.	.	ENSG00000117593	ENST00000361951	D	0.83992	-1.79	5.07	3.93	0.45458	.	0.772050	0.11622	N	0.545643	T	0.57666	0.2069	L	0.34521	1.04	0.25330	N	0.989047	B	0.17038	0.02	B	0.12156	0.007	T	0.50955	-0.8766	10	0.37606	T	0.19	0.1797	8.9837	0.35980	0.0:0.0:0.1871:0.8129	.	25	Q6PI48	SYDM_HUMAN	T	25	ENSP00000355086:I25T	ENSP00000355086:I25T	I	+	2	0	DARS2	172061064	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.391000	0.20784	0.757000	0.33036	0.459000	0.35465	ATC		0.473	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122		19	51	0	0	0	1	0	19	51					C	173794441	T	C	173794441	3	2	48	1	0	0	0	0	1	0	0	0	4244	1435	50	4	76	4	DARS2	1	173794441	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	68262	173794441	75456180	299	4767										
SERPINC1	462	broad.mit.edu	37	chr1	173873151	173873151	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttggggtttagcgaacggCcagcaatcacaacagcggta	13	9	1	0	rs121909566		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173873151C>T	ENST00000367698.3	-	7	1389	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	424			G -> D (in AT3D; type-II; Stockholm). {ECO:0000269|PubMed:1547341, ECO:0000269|PubMed:9031473}.		blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	TAGCGAACGGCCAGCAATCAC	0.463																																						ENST00000367698.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25	GRCh37	CM910059	SERPINC1	M	rs121909566	c.(1270-1272)gGc>gAc		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						77	74	75					1																	173873151		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173873151C>T	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"Serine (or cysteine) peptidase inhibitors"	775	protein-coding gene	gene with protein product	"antithrombin III", "signal peptide antithrombin part 1", "coding sequence signal peptide antithrombin part 1", "antithrombin (aa 375-432)"	107300	"serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1271G>A	1.37:g.173873151C>T	ENSP00000356671:p.Gly424Asp		Somatic					p.G424D	NM_000488.3	NP_000479.1	WXS	Illumina GAIIx	Phase_I	P01008	ANT3_HUMAN			7	1389	-			424		G -> D (in AT3D; type-II; Stockholm).			B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.1271G>A	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172033	0.78452	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.82433	-1.61	5.74	5.74	0.90152	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.86715	0.5999	M	0.65975	2.015	0.80722	A	1	D	0.89917	1.0	D	0.85130	0.997	T	0.83293	-0.0032	9	0.21014	T	0.42	.	15.2031	0.73157	0.1414:0.8586:0.0:0.0	.	424	P01008	ANT3_HUMAN	D	424;219	ENSP00000356671:G424D	ENSP00000307953:G219D	G	-	2	0	SERPINC1	172139774	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.346000	0.65992	2.712000	0.92718	0.650000	0.86243	GGC		0.463	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		25	42	0	0	0	1	0	25	42					T	173873151	C	T	173873151	3	4	48	1	0	0	0	0	1	0	0	0	14124	739	26	3	127	3	SERPINC1	1	173873151	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	78710	173873151	75377470	300	4768										
SERPINC1	462	broad.mit.edu	37	chr1	173881126	173881126	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggatctgatcagatgttttCtcagatatggtgtcaaactt	9	6	4	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173881126C>A	ENST00000367698.3	-	3	553	c.435G>T	c.(433-435)gaG>gaT	p.E145D	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	145					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	CAGATGTTTTCTCAGATATGG	0.428																																						ENST00000367698.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25						c.(433-435)gaG>gaT		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						168	157	161					1																	173881126		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173881126C>A	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"Serine (or cysteine) peptidase inhibitors"	775	protein-coding gene	gene with protein product	"antithrombin III", "signal peptide antithrombin part 1", "coding sequence signal peptide antithrombin part 1", "antithrombin (aa 375-432)"	107300	"serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.435G>T	1.37:g.173881126C>A	ENSP00000356671:p.Glu145Asp		Somatic				SERPINC1_ENST00000494024.1_5'UTR	p.E145D	NM_000488.3	NP_000479.1	WXS	Illumina GAIIx	Phase_I	P01008	ANT3_HUMAN			3	553	-			145					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.435G>T	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885564	0.72410	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.82526	-1.62	5.66	1.72	0.24424	Serpin domain (3);	0.464356	0.26804	N	0.022415	T	0.69522	0.3120	L	0.43646	1.37	0.53688	D	0.999977	P	0.37207	0.587	B	0.42163	0.378	T	0.71497	-0.4575	10	0.62326	D	0.03	.	10.1891	0.43015	0.0:0.6778:0.0:0.3222	.	145	P01008	ANT3_HUMAN	D	145	ENSP00000356671:E145D	ENSP00000307953:E145D	E	-	3	2	SERPINC1	172147749	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.831000	0.27476	0.760000	0.33108	0.591000	0.81541	GAG		0.428	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		31	48	1	0	9.65021e-13	1	1.22324e-12	31	48					A	173881126	C	A	173881126	3	1	48	1	0	0	0	0	1	0	0	0	14124	912	32	2	979	2	SERPINC1	1	173881126	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	7975	173881126	75369495	301	4769										
RC3H1	149041	broad.mit.edu	37	chr1	173910505	173910505	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttgcttttcatgtccagaGaacactggttttcctttgaa	8	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173910505G>T	ENST00000367696.2	-	19	3500	c.3149C>A	c.(3148-3150)tCt>tAt	p.S1050Y	RC3H1_ENST00000367694.2_Missense_Mutation_p.S1041Y|RC3H1_ENST00000258349.4_Missense_Mutation_p.S1050Y			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1050					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						CATGTCCAGAGAACACTGGTT	0.363																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(3148-3150)tCt>tAt		ring finger and CCCH-type domains 1							244	205	218					1																	173910505		2203	4300	6503	SO:0001583	missense	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.chr1:173910505G>T	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.3149C>A	1.37:g.173910505G>T	ENSP00000356669:p.Ser1050Tyr		Somatic				RC3H1_ENST00000367694.2_Missense_Mutation_p.S1041Y|RC3H1_ENST00000258349.4_Missense_Mutation_p.S1050Y	p.S1050Y			WXS	Illumina GAIIx	Phase_I	Q5TC82	RC3H1_HUMAN			19	3500	-			1050					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.3149C>A	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648830	0.67358	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.51071	0.72;0.72;0.72	5.94	5.94	0.96194	.	0.314220	0.40469	N	0.001096	T	0.38214	0.1032	N	0.19112	0.55	0.45056	D	0.998074	P;P;P;P	0.44260	0.739;0.739;0.83;0.739	B;B;P;B	0.49012	0.394;0.394;0.598;0.394	T	0.37572	-0.9700	10	0.72032	D	0.01	-10.9101	20.3616	0.98856	0.0:0.0:1.0:0.0	.	1050;1041;1041;1050	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	Y	1050;1050;1041	ENSP00000356669:S1050Y;ENSP00000258349:S1050Y;ENSP00000356667:S1041Y	ENSP00000258349:S1050Y	S	-	2	0	RC3H1	172177128	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	6.116000	0.71571	2.818000	0.97014	0.637000	0.83480	TCT		0.363	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		21	45	1	0	7.45023e-12	1	9.31775e-12	21	45					T	173910505	G	T	173910505	3	4	48	1	0	0	0	0	1	0	0	0	13181	942	33	2	260	2	RC3H1	1	173910505	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	29379	173910505	75340116	302	4770										
RC3H1	149041	broad.mit.edu	37	chr1	173962048	173962048	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acccaaactgatgggctttcGaattgtttcgtcgaaagtct	9	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173962048G>A	ENST00000367696.2	-	2	427	c.76C>T	c.(76-78)Cga>Tga	p.R26*	RC3H1_ENST00000367694.2_Nonsense_Mutation_p.R26*|RC3H1_ENST00000258349.4_Nonsense_Mutation_p.R26*			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	26					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						ATGGGCTTTCGAATTGTTTCG	0.473																																						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.(76-78)Cga>Tga		ring finger and CCCH-type domains 1							138	127	130					1																	173962048		2203	4300	6503	SO:0001587	stop_gained	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.chr1:173962048G>A	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.76C>T	1.37:g.173962048G>A	ENSP00000356669:p.Arg26*		Somatic				RC3H1_ENST00000367694.2_Nonsense_Mutation_p.R26*|RC3H1_ENST00000258349.4_Nonsense_Mutation_p.R26*	p.R26*			WXS	Illumina GAIIx	Phase_I	Q5TC82	RC3H1_HUMAN			2	427	-			26					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Nonsense_Mutation	SNP	ENST00000367696.2	37	c.76C>T	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	38	6.779690	0.97833	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	.	.	.	5.78	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3241	16.2237	0.82280	0.0:0.0:0.866:0.134	.	.	.	.	X	26	.	ENSP00000258349:R26X	R	-	1	2	RC3H1	172228671	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.296000	0.72751	1.447000	0.47661	0.655000	0.94253	CGA		0.473	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		6	77	0	0	0	1	0	6	77					A	173962048	G	A	173962048	4	1	48	1	0	0	0	0	0	1	0	0	13181	1066	37	1	3401	1	RC3H1	1	173962048	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	51543	173962048	75288573	303	4771										
RABGAP1L	9910	broad.mit.edu	37	chr1	174219751	174219751	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttggaggtaaaagaagacGatggaaaaggaaactttagg	13	4	0	2	rs530610651		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:174219751G>T	ENST00000251507.4	+	6	1030	c.856G>T	c.(856-858)Gat>Tat	p.D286Y	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.D249Y|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AAAAGAAGACGATGGAAAAGG	0.383																																						ENST00000251507.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.(856-858)Gat>Tat		RAB GTPase activating protein 1-like							132	129	130					1																	174219751		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174219751G>T	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.856G>T	1.37:g.174219751G>T	ENSP00000251507:p.Asp286Tyr		Somatic				RABGAP1L_ENST00000357444.6_Missense_Mutation_p.D249Y|RABGAP1L_ENST00000367689.3_5'UTR	p.D286Y	NM_014857.4	NP_055672.3	WXS	Illumina GAIIx	Phase_I	Q5R372	RBG1L_HUMAN			6	1030	+			286					B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.856G>T	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869643	0.72065	.	.	ENSG00000152061	ENST00000357444;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.61510	0.1;2.76;0.46	5.8	3.89	0.44902	.	0.051503	0.85682	N	0.000000	T	0.71787	0.3381	M	0.68593	2.085	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	T	0.72981	-0.4126	10	0.87932	D	0	.	11.0009	0.47604	0.0669:0.0:0.8036:0.1296	.	286;286;249	B7WPG6;Q5R372;Q5R372-2	.;RBG1L_HUMAN;.	Y	249;286;286;286	ENSP00000350027:D249Y;ENSP00000251507:D286Y;ENSP00000403136:D286Y	ENSP00000251507:D286Y	D	+	1	0	RABGAP1L	172486374	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	9.476000	0.97823	0.774000	0.33427	0.561000	0.74099	GAT		0.383	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		15	49	1	0	1.3612e-06	1	1.53357e-06	15	49					T	174219751	G	T	174219751	3	4	48	1	0	0	0	0	1	0	0	0	12980	1058	37	2	874	2	RABGAP1L	1	174219751	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	257703	174219751	75030870	304	4772										
GPR52	9293	broad.mit.edu	37	chr1	174417471	174417471	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctccactgttacatcattaTactaccagctatttcattca	3	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:174417471T>C	ENST00000367685.2	+	1	260	c.222T>C	c.(220-222)taT>taC	p.Y74Y	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	74					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TACATCATTATACTACCAGCT	0.418																																					Ovarian(92;924 1390 1930 16467 40583)	ENST00000367685.2																			0				breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						c.(220-222)taT>taC		G protein-coupled receptor 52							273	249	257					1																	174417471		2203	4300	6503	SO:0001819	synonymous_variant	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417471T>C	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"GPCR / Class A : Orphans"	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.222T>C	1.37:g.174417471T>C			Somatic				RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	p.Y74Y	NM_005684.4	NP_005675.3	WXS	Illumina GAIIx	Phase_I	Q9Y2T5	GPR52_HUMAN			1	260	+			74					O75654|Q4VBL6|Q6ISM0	Silent	SNP	ENST00000367685.2	37	c.222T>C	CCDS30941.1																																																																																				0.418	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		52	76	0	0	0	1	0	52	76					C	174417471	T	C	174417471	2	2	48	1	0	0	0	0	0	0	0	1	6706	1413	49	4		4	GPR52	1	174417471	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	197720	174417471	74833150	305	4773										
RFWD2	64326	broad.mit.edu	37	chr1	176132020	176132020	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttactgcttccagttgtttCttcttctgcactagtaactc	5	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:176132020C>A	ENST00000367669.3	-	5	1261	c.747G>T	c.(745-747)aaG>aaT	p.K249N	RFWD2_ENST00000308769.8_Missense_Mutation_p.K245N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	249					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCAGTTGTTTCTTCTTCTGCA	0.338																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(745-747)aaG>aaT		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase							87	88	88					1																	176132020		2203	4300	6503	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176132020C>A	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.747G>T	1.37:g.176132020C>A	ENSP00000356641:p.Lys249Asn		Somatic				RFWD2_ENST00000308769.8_Missense_Mutation_p.K245N	p.K249N	NM_022457.5	NP_071902.2	WXS	Illumina GAIIx	Phase_I	Q8NHY2	RFWD2_HUMAN			5	1261	-			249					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.747G>T	CCDS30944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.32|18.32	3.598138|3.598138	0.66332|0.66332	.|.	.|.	ENSG00000143207|ENSG00000143207	ENST00000436424|ENST00000367669;ENST00000367666;ENST00000308769;ENST00000498306	.|T;T;T;T	.|0.19105	.|2.17;2.17;2.17;2.17	5.45|5.45	3.53|3.53	0.40419|0.40419	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.41143	.|0.1146	M|M	0.73962|0.73962	2.25|2.25	0.53688|0.53688	D|D	0.999976|0.999976	.|D;D;P	.|0.65815	.|0.995;0.981;0.851	.|D;D;P	.|0.67231	.|0.919;0.95;0.775	.|T	.|0.29243	.|-1.0018	.|10	.|0.62326	.|D	.|0.03	.|-12.8016	8.9855|8.9855	0.35992|0.35992	0.0:0.7062:0.0:0.2938|0.0:0.7062:0.0:0.2938	.|.	.|245;249;249	.|Q8NHY2-2;Q8NHY2;Q504W6	.|.;RFWD2_HUMAN;.	.|N	-1|249;104;245;108	.|ENSP00000356641:K249N;ENSP00000356638:K104N;ENSP00000310943:K245N;ENSP00000433810:K108N	.|ENSP00000310943:K245N	.|K	-|-	.|3	.|2	RFWD2|RFWD2	174398643|174398643	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.302000|1.302000	0.33459|0.33459	1.268000|1.268000	0.44264|0.44264	0.585000|0.585000	0.79938|0.79938	.|AAG		0.338	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		11	21	1	0	0.000673444	1	0.000709932	11	21					A	176132020	C	A	176132020	3	1	48	1	0	0	0	0	1	0	0	0	13275	912	32	2	1512	2	RFWD2	1	176132020	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1714549	176132020	73118601	306	4774										
RFWD2	64326	broad.mit.edu	37	chr1	176132999	176132999	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacctcttttcctcaaatctTtgcttctgtttaagaatgag	5	9	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:176132999T>G	ENST00000367669.3	-	4	1108	c.594A>C	c.(592-594)caA>caC	p.Q198H	RFWD2_ENST00000308769.8_Missense_Mutation_p.Q198H	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	198					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCTCAAATCTTTGCTTCTGTT	0.284																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(592-594)caA>caC		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase							48	47	48					1																	176132999		2203	4295	6498	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176132999T>G	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.594A>C	1.37:g.176132999T>G	ENSP00000356641:p.Gln198His		Somatic				RFWD2_ENST00000308769.8_Missense_Mutation_p.Q198H	p.Q198H	NM_022457.5	NP_071902.2	WXS	Illumina GAIIx	Phase_I	Q8NHY2	RFWD2_HUMAN			4	1108	-			198					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.594A>C	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	T	18.38	3.611368	0.66558	.	.	ENSG00000143207	ENST00000367669;ENST00000367666;ENST00000308769;ENST00000498306;ENST00000436424	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	5.24	4.13	0.48395	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.51422	1.61	0.58432	D	0.999993	D;D;P	0.57571	0.976;0.98;0.86	P;D;P	0.66979	0.722;0.948;0.585	T	0.00699	-1.1604	10	0.40728	T	0.16	-10.1674	10.165	0.42875	0.0:0.0794:0.0:0.9206	.	198;198;198	Q8NHY2-2;Q8NHY2;Q504W6	.;RFWD2_HUMAN;.	H	198;53;198;57;198	ENSP00000356641:Q198H;ENSP00000356638:Q53H;ENSP00000310943:Q198H;ENSP00000433810:Q57H	ENSP00000310943:Q198H	Q	-	3	2	RFWD2	174399622	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.879000	0.39618	1.974000	0.57490	0.482000	0.46254	CAA		0.284	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		9	23	0	0	0	1	0	9	23					G	176132999	T	G	176132999	3	3	48	1	0	0	0	0	1	0	0	0	13275	1838	64	4	1669	4	RFWD2	1	176132999	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	979	176132999	73117622	307	4775										
ASTN1	460	broad.mit.edu	37	chr1	176903403	176903403	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctggatgtaatggttgccGaactggtccaacagcgccac	11	12	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:176903403G>A	ENST00000367654.3	-	16	2791	c.2580C>T	c.(2578-2580)ttC>ttT	p.F860F	ASTN1_ENST00000367657.3_Silent_p.F852F|ASTN1_ENST00000424564.2_Silent_p.F852F|ASTN1_ENST00000361833.2_Silent_p.F852F|ASTN1_ENST00000281881.3_5'Flank	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	860					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						AATGGTTGCCGAACTGGTCCA	0.542																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(2578-2580)ttC>ttT		astrotactin 1							119	98	105					1																	176903403		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176903403G>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.2580C>T	1.37:g.176903403G>A			Somatic				ASTN1_ENST00000361833.2_Silent_p.F852F|ASTN1_ENST00000367657.3_Silent_p.F852F|ASTN1_ENST00000424564.2_Silent_p.F852F	p.F860F			WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			16	2593	-			860					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.2580C>T																																																																																					0.542	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		25	32	0	0	0	1	0	25	32					A	176903403	G	A	176903403	2	1	48	1	0	0	0	0	0	0	0	1	1064	1049	37	1		1	ASTN1	1	176903403	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	770404	176903403	72347218	308	4776										
ASTN1	460	broad.mit.edu	37	chr1	177030254	177030254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctcagctcctcttctgccGactcatgttggggttcttca	8	14	6	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:177030254G>A	ENST00000367654.3	-	2	642	c.431C>T	c.(430-432)tCg>tTg	p.S144L	ASTN1_ENST00000367657.3_Missense_Mutation_p.S144L|ASTN1_ENST00000424564.2_Missense_Mutation_p.S144L|ASTN1_ENST00000361833.2_Missense_Mutation_p.S144L|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	144					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						CTCTTCTGCCGACTCATGTTG	0.507																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(430-432)tCg>tTg		astrotactin 1							231	215	220					1																	177030254		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177030254G>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.431C>T	1.37:g.177030254G>A	ENSP00000356626:p.Ser144Leu		Somatic				ASTN1_ENST00000361833.2_Missense_Mutation_p.S144L|ASTN1_ENST00000367657.3_Missense_Mutation_p.S144L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.S144L	p.S144L			WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			2	444	-			144					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.431C>T		.	.	.	.	.	.	.	.	.	.	G	16.63	3.177523	0.57692	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15017	2.46;2.88;2.88;2.46	6.06	6.06	0.98353	.	0.143214	0.48767	D	0.000170	T	0.13329	0.0323	L	0.40543	1.245	0.58432	D	0.999997	P;P;P	0.47841	0.901;0.83;0.83	B;B;B	0.28465	0.09;0.09;0.09	T	0.09840	-1.0656	10	0.24483	T	0.36	-7.1301	20.2159	0.98296	0.0:0.0:1.0:0.0	.	144;144;144	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	L	144	ENSP00000356629:S144L;ENSP00000354536:S144L;ENSP00000356626:S144L;ENSP00000395041:S144L	ENSP00000354536:S144L	S	-	2	0	ASTN1	175296877	1.000000	0.71417	0.968000	0.41197	0.817000	0.46193	7.647000	0.83462	2.882000	0.98803	0.655000	0.94253	TCG		0.507	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		47	88	0	0	0	1	0	47	88					A	177030254	G	A	177030254	3	1	48	1	0	0	0	0	1	0	0	0	1064	1059	37	1	3545	1	ASTN1	1	177030254	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	126851	177030254	72220367	309	4777										
C1orf49	84066	broad.mit.edu	37	chr1	178485757	178485757	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttccttgttagataaaggAtctaatggacaaggattttg	9	5	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:178485757A>C	ENST00000319416.2	+	5	336	c.224A>C	c.(223-225)gAt>gCt	p.D75A	TEX35_ENST00000367639.1_Missense_Mutation_p.D83A|TEX35_ENST00000367642.3_Intron|TEX35_ENST00000367643.3_Missense_Mutation_p.D75A|TEX35_ENST00000367641.3_Missense_Mutation_p.D75A|TEX35_ENST00000258298.2_5'UTR	NM_032126.4	NP_115502.2			testis expressed 35																		TAGATAAAGGATCTAATGGAC	0.403																																						ENST00000367641.3																			0											c.(223-225)gAt>gCt		testis expressed 35							126	107	113					1																	178485757		2203	4300	6503	SO:0001583	missense	84066							g.chr1:178485757A>C	AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"Testis-Specific Conserved gene 24kDa"		"chromosome 1 open reading frame 49"	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.224A>C	1.37:g.178485757A>C	ENSP00000323795:p.Asp75Ala		Somatic				TEX35_ENST00000367643.3_Missense_Mutation_p.D75A|TEX35_ENST00000367642.3_Intron|TEX35_ENST00000258298.2_5'UTR|TEX35_ENST00000319416.2_Missense_Mutation_p.D75A|TEX35_ENST00000367639.1_Missense_Mutation_p.D83A	p.D75A			WXS	Illumina GAIIx	Phase_I					5	283	+									Missense_Mutation	SNP	ENST00000319416.2	37	c.224A>C	CCDS1323.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.357762	0.24598	.	.	ENSG00000240021	ENST00000319416;ENST00000367643;ENST00000367641;ENST00000367639	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.12	1.38	0.22167	.	1.223500	0.05889	N	0.627832	T	0.19525	0.0469	L	0.46157	1.445	0.09310	N	0.999998	P;P;P	0.36909	0.573;0.573;0.573	B;B;B	0.36666	0.23;0.23;0.23	T	0.26467	-1.0102	10	0.59425	D	0.04	-0.678	4.2425	0.10656	0.6378:0.1716:0.1906:0.0	.	83;75;75	Q5T0J7-2;Q5T0J7-3;Q5T0J7	.;.;CA049_HUMAN	A	75;75;75;83	ENSP00000323795:D75A;ENSP00000356615:D75A;ENSP00000356613:D75A;ENSP00000356611:D83A	ENSP00000323795:D75A	D	+	2	0	C1orf49	176752380	0.232000	0.23762	0.011000	0.14972	0.071000	0.16799	1.148000	0.31614	0.039000	0.15632	-0.316000	0.08728	GAT		0.403	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084917.1	NM_032126		3	23	0	0	0	1	0	3	23					C	178485757	A	C	178485757	3	2	48	1	0	0	0	0	1	0	0	0	2043	333	12	4	266	4	C1orf49	1	178485757	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1455503	178485757	70764864	310	4778										
ANGPTL1	9068	broad.mit.edu	37	chr1	178834092	178834092	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtaagaggtaactcaccttCattgatgaaagttaccggtg	10	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:178834092C>A	ENST00000234816.2	-	3	1267	c.820G>T	c.(820-822)Gaa>Taa	p.E274*	ANGPTL1_ENST00000367629.1_Nonsense_Mutation_p.E274*|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	274	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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						AACTCACCTTCATTGATGAAA	0.393																																						ENST00000234816.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						c.(820-822)Gaa>Taa		angiopoietin-like 1							53	53	53					1																	178834092		2203	4299	6502	SO:0001587	stop_gained	9068					extracellular space	receptor binding	g.chr1:178834092C>A	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.820G>T	1.37:g.178834092C>A	ENSP00000234816:p.Glu274*		Somatic				RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Nonsense_Mutation_p.E274*|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000324778.4_Intron	p.E274*	NM_004673.3	NP_004664.1	WXS	Illumina GAIIx	Phase_I	O95841	ANGL1_HUMAN			3	1267	-			274			Fibrinogen C-terminal.		Q5T5Z5	Nonsense_Mutation	SNP	ENST00000234816.2	37	c.820G>T	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	C	40	8.183602	0.98693	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000415564	.	.	.	5.32	5.32	0.75619	.	0.177282	0.49916	D	0.000131	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	18.9552	0.92655	0.0:1.0:0.0:0.0	.	.	.	.	X	274;274;238	.	ENSP00000234816:E274X	E	-	1	0	ANGPTL1	177100715	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.015000	0.76387	2.639000	0.89480	0.650000	0.86243	GAA		0.393	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		12	39	1	0	1.08611e-07	1	1.25818e-07	12	39					A	178834092	C	A	178834092	4	1	48	1	0	0	0	0	0	1	0	0	613	835	29	2	671	2	ANGPTL1	1	178834092	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	348335	178834092	70416529	311	4779										
RALGPS2	55103	broad.mit.edu	37	chr1	178875917	178875917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggataattttaggaaattCgtacaagtttcaagctggca	9	5	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:178875917C>T	ENST00000367635.3	+	19	1975	c.1637C>T	c.(1636-1638)tCg>tTg	p.S546L	RALGPS2_ENST00000367634.2_Missense_Mutation_p.S520L	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	546	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA. {ECO:0000250}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.S546L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTAGGAAATTCGTACAAGTTT	0.333																																						ENST00000367635.3																			1	Substitution - Missense(1)	p.S546L(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1636-1638)tCg>tTg		Ral GEF with PH domain and SH3 binding motif 2							82	81	81					1																	178875917		2203	4300	6503	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178875917C>T	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1637C>T	1.37:g.178875917C>T	ENSP00000356607:p.Ser546Leu		Somatic				RALGPS2_ENST00000367634.2_Missense_Mutation_p.S520L|RALGPS2_ENST00000324778.4_Missense_Mutation_p.S511L	p.S546L	NM_152663.3	NP_689876.2	WXS	Illumina GAIIx	Phase_I	Q86X27	RGPS2_HUMAN			19	1975	+			546			PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.1637C>T	CCDS1325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.157374|4.157374	0.78114|0.78114	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000367632|ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	.|T;T;T	.|0.79352	.|-1.26;-1.26;-1.26	6.08|6.08	6.08|6.08	0.98989|0.98989	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.069958	.|0.64402	.|D	.|0.000015	T|T	0.74245|0.74245	0.3691|0.3691	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B;B	.|0.24132	.|0.049;0.098	.|B;B	.|0.26517	.|0.02;0.07	T|T	0.67421|0.67421	-0.5675|-0.5675	5|10	.|0.41790	.|T	.|0.15	.|.	20.2585|20.2585	0.98435|0.98435	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|520;546	.|B7Z7B1;Q86X27	.|.;RGPS2_HUMAN	C|L	137|546;520;511;195	.|ENSP00000356607:S546L;ENSP00000356606:S520L;ENSP00000313613:S511L	.|ENSP00000313613:S511L	R|S	+|+	1|2	0|0	RALGPS2|RALGPS2	177142540|177142540	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	7.276000|7.276000	0.78559|0.78559	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.333	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		12	22	0	0	0	1	0	12	22					T	178875917	C	T	178875917	3	4	48	1	0	0	0	0	1	0	0	0	13033	893	31	1	1707	1	RALGPS2	1	178875917	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	41825	178875917	70374704	312	4780										
C1orf125	126859	broad.mit.edu	37	chr1	179380300	179380300	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaatagtagaagaatatcatGacttatatacattacaaaga	6	4	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:179380300G>T	ENST00000367618.3	+	12	1516	c.1129G>T	c.(1129-1131)Gac>Tac	p.D377Y	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.D377Y	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	377										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						AGAATATCATGACTTATATAC	0.279																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(1129-1131)Gac>Tac		axonemal dynein light chain domain containing 1							59	70	67					1																	179380300		2203	4296	6499	SO:0001583	missense	126859							g.chr1:179380300G>T	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1129G>T	1.37:g.179380300G>T	ENSP00000356590:p.Asp377Tyr		Somatic				AXDND1_ENST00000457238.2_Missense_Mutation_p.D377Y|AXDND1_ENST00000461179.2_3'UTR	p.D377Y	NM_144696.4	NP_653297.3	WXS	Illumina GAIIx	Phase_I	Q5T1B0	AXDN1_HUMAN			12	1516	+			377					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.1129G>T	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421891	0.62622	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.51817	1.98;0.69;2.01	5.18	5.18	0.71444	.	0.222746	0.45867	D	0.000321	T	0.62998	0.2474	L	0.50333	1.59	0.32895	D	0.512368	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.964	T	0.71988	-0.4426	10	0.87932	D	0	-5.8789	14.5509	0.68065	0.0:0.0:1.0:0.0	.	335;377;377	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	Y	377;335;377;311	ENSP00000356590:D377Y;ENSP00000416712:D377Y;ENSP00000391716:D311Y	ENSP00000353471:D335Y	D	+	1	0	AXDND1	177646923	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	4.742000	0.62103	2.552000	0.86080	0.585000	0.79938	GAC		0.279	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		24	57	1	0	4.72057e-08	1	5.51616e-08	24	57					T	179380300	G	T	179380300	3	4	48	1	0	0	0	0	1	0	0	0	1995	1290	45	2	1171	2	C1orf125	1	179380300	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	504383	179380300	69870321	313	4781										
TDRD5	163589	broad.mit.edu	37	chr1	179564769	179564769	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attactcacaaaaggtaaaaTttttacccagccatttagaa	4	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:179564769T>A	ENST00000367614.1	+	4	1006	c.647T>A	c.(646-648)aTt>aAt	p.I216N	TDRD5_ENST00000444136.1_Missense_Mutation_p.I216N|TDRD5_ENST00000294848.8_Missense_Mutation_p.I216N	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	216					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)				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						AAAGGTAAAATTTTTACCCAG	0.408																																						ENST00000444136.1																			0				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.(646-648)aTt>aAt		tudor domain containing 5							45	48	47					1																	179564769		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179564769T>A	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.647T>A	1.37:g.179564769T>A	ENSP00000356586:p.Ile216Asn		Somatic				TDRD5_ENST00000367614.1_Missense_Mutation_p.I216N|TDRD5_ENST00000294848.8_Missense_Mutation_p.I216N	p.I216N	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	WXS	Illumina GAIIx	Phase_I	Q8NAT2	TDRD5_HUMAN			4	897	+			216			Lotus/OST-HTH 2.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.647T>A	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.355558	0.24598	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.12147	2.71;2.71;2.9	4.98	0.74	0.18330	.	0.833392	0.10088	N	0.717544	T	0.05090	0.0136	N	0.08118	0	0.21220	N	0.999751	B;B	0.12630	0.006;0.001	B;B	0.10450	0.005;0.001	T	0.44997	-0.9291	10	0.10636	T	0.68	-16.6843	2.6934	0.05127	0.4394:0.1366:0.0:0.424	.	216;216	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	N	216	ENSP00000356586:I216N;ENSP00000294848:I216N;ENSP00000406052:I216N	ENSP00000294848:I216N	I	+	2	0	TDRD5	177831392	0.995000	0.38212	0.978000	0.43139	0.944000	0.59088	0.062000	0.14389	0.276000	0.22118	0.477000	0.44152	ATT		0.408	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		8	34	0	0	0	1	0	8	34					A	179564769	T	A	179564769	3	1	48	1	0	0	0	0	1	0	0	0	15748	1493	52	4	657	4	TDRD5	1	179564769	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	184469	179564769	69685852	314	4782										
TDRD5	163589	broad.mit.edu	37	chr1	179599930	179599930	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaagagcaactatcaccaaAaaaattaggcttcttaaatg	5	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:179599930A>C	ENST00000367614.1	+	7	1360	c.1001A>C	c.(1000-1002)aAa>aCa	p.K334T	TDRD5_ENST00000444136.1_Missense_Mutation_p.K334T|TDRD5_ENST00000294848.8_Missense_Mutation_p.K334T	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	334	HTH OST-type 3. {ECO:0000255|PROSITE- ProRule:PRU00975}.				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)				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						CTATCACCAAAAAAATTAGGC	0.328																																						ENST00000444136.1																			0				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.(1000-1002)aAa>aCa		tudor domain containing 5							85	84	84					1																	179599930		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179599930A>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.1001A>C	1.37:g.179599930A>C	ENSP00000356586:p.Lys334Thr		Somatic				TDRD5_ENST00000367614.1_Missense_Mutation_p.K334T|TDRD5_ENST00000294848.8_Missense_Mutation_p.K334T	p.K334T	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	WXS	Illumina GAIIx	Phase_I	Q8NAT2	TDRD5_HUMAN			7	1251	+			334			Lotus/OST-HTH 3.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.1001A>C	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833425	0.71258	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.46819	0.86;0.86;0.86	5.25	5.25	0.73442	.	0.657537	0.15226	N	0.273672	T	0.64843	0.2635	M	0.64997	1.995	0.36181	D	0.849428	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.67304	-0.5704	10	0.34782	T	0.22	-27.0764	13.4085	0.60929	1.0:0.0:0.0:0.0	.	334;334	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	T	334	ENSP00000356586:K334T;ENSP00000294848:K334T;ENSP00000406052:K334T	ENSP00000294848:K334T	K	+	2	0	TDRD5	177866553	1.000000	0.71417	0.970000	0.41538	0.973000	0.67179	2.700000	0.47085	2.105000	0.64084	0.528000	0.53228	AAA		0.328	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		16	34	0	0	0	1	0	16	34					C	179599930	A	C	179599930	3	2	48	1	0	0	0	0	1	0	0	0	15748	14	1	4	1023	4	TDRD5	1	179599930	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	35161	179599930	69650691	315	4783										
TOR1AIP1	26092	broad.mit.edu	37	chr1	179869292	179869292	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtccaacagaaggtcaatttCtctgaagaaggtattttact	8	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:179869292C>T	ENST00000606911.2	+	4	833	c.642C>T	c.(640-642)ttC>ttT	p.F214F	TOR1AIP1_ENST00000435319.4_Silent_p.F93F|RN7SL230P_ENST00000580835.1_RNA|TOR1AIP1_ENST00000271583.3_Silent_p.F215F|TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000528443.2_Silent_p.F215F			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	214					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						AGGTCAATTTCTCTGAAGAAG	0.279																																						ENST00000435319.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						c.(640-642)ttC>ttT		torsin A interacting protein 1							46	48	47					1																	179869292		2200	4296	6496	SO:0001819	synonymous_variant	26092					integral to membrane|nuclear inner membrane		g.chr1:179869292C>T		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"lamina associated polypeptide 1B"	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.642C>T	1.37:g.179869292C>T			Somatic				TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000271583.3_Silent_p.F215F	p.F214F	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	WXS	Illumina GAIIx	Phase_I	Q5JTV8	TOIP1_HUMAN			4	833	+			214					A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Silent	SNP	ENST00000606911.2	37	c.642C>T	CCDS1335.1	.	.	.	.	.	.	.	.	.	.	C	0.164	-1.078500	0.01903	.	.	ENSG00000143337	ENST00000527391	.	.	.	3.84	-0.0623	0.13781	.	.	.	.	.	T	0.29524	0.0736	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	T	0.27640	-1.0068	4	.	.	.	-1.1529	6.2353	0.20760	0.0:0.5556:0.0:0.4444	.	.	.	.	F	91	.	.	L	+	1	0	TOR1AIP1	178135915	0.099000	0.21834	0.029000	0.17559	0.291000	0.27294	0.146000	0.16180	-0.001000	0.14495	0.655000	0.94253	CTC		0.279	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		12	9	0	0	0	1	0	12	9					T	179869292	C	T	179869292	2	4	48	1	0	0	0	0	0	0	0	1	16387	912	32	3		3	TOR1AIP1	1	179869292	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	269362	179869292	69381329	316	4784										
CACNA1E	777	broad.mit.edu	37	chr1	181702655	181702655	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccccctagtcctgccccatCctgagctggaagtggggaag	12	15	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:181702655C>A	ENST00000367573.2	+	21	3031	c.3031C>A	c.(3031-3033)Cct>Act	p.P1011T	CACNA1E_ENST00000526775.1_Missense_Mutation_p.P992T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P943T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P618T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1011T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P992T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P962T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1011					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						CCTGCCCCATCCTGAGCTGGA	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.(2974-2976)Cct>Act		calcium channel, voltage-dependent, R type, alpha 1E subunit							47	54	52					1																	181702655		2136	4251	6387	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702655C>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.3031C>A	1.37:g.181702655C>A	ENSP00000356545:p.Pro1011Thr		Somatic				CACNA1E_ENST00000358338.5_Missense_Mutation_p.P943T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1011T|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1011T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P992T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P962T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P618T	p.P992T	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			20	3139	+			1011					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2974C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	7.445	0.641552	0.14451	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.95949	-3.79;-3.8;-3.8;-3.8;-3.86;-3.81;-3.8	4.19	2.2	0.27929	.	2.946300	0.00698	N	0.000776	D	0.89719	0.6796	N	0.08118	0	0.09310	N	1	B;B;B	0.17038	0.02;0.0;0.001	B;B;B	0.18561	0.022;0.0;0.015	T	0.79050	-0.1962	10	0.14252	T	0.57	.	11.2696	0.49131	0.0:0.6419:0.3581:0.0	.	992;1011;1011	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	T	1011;992;962;943;618;992;1011	ENSP00000356542:P1011T;ENSP00000434814:P992T;ENSP00000350183:P962T;ENSP00000351101:P943T;ENSP00000356539:P618T;ENSP00000353222:P992T;ENSP00000356545:P1011T	ENSP00000350183:P962T	P	+	1	0	CACNA1E	179969278	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	-0.007000	0.12810	0.359000	0.24239	-0.502000	0.04539	CCT		0.627	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		12	25	1	0	5.50884e-06	1	6.10489e-06	12	25					A	181702655	C	A	181702655	3	1	48	1	0	0	0	0	1	0	0	0	2544	855	30	2	3113	2	CACNA1E	1	181702655	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1833363	181702655	67547966	317	4785										
CACNA1E	777	broad.mit.edu	37	chr1	181724489	181724489	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagctcttcaagggaaagttCttttattgcacggacagttc	9	9	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:181724489C>A	ENST00000367573.2	+	28	3945	c.3945C>A	c.(3943-3945)ttC>ttA	p.F1315L	CACNA1E_ENST00000526775.1_Missense_Mutation_p.F1296L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F1247L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.F922L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F1315L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F1296L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F1266L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1315					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.F1315L(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						AGGGAAAGTTCTTTTATTGCA	0.448																																						ENST00000526775.1																			1	Substitution - Missense(1)	p.F1315L(1)	large_intestine(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.(3886-3888)ttC>ttA		calcium channel, voltage-dependent, R type, alpha 1E subunit							231	226	228					1																	181724489		2073	4225	6298	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181724489C>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.3945C>A	1.37:g.181724489C>A	ENSP00000356545:p.Phe1315Leu		Somatic				CACNA1E_ENST00000358338.5_Missense_Mutation_p.F1247L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F1315L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.F1315L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F1296L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F1266L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.F922L	p.F1296L	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			27	4053	+			1315					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3888C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123710	0.56613	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73;-4.73;-4.73;-4.73	5.29	5.29	0.74685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	L	0.57536	1.79	0.80722	D	1	B;D;D	0.65815	0.179;0.995;0.974	P;D;D	0.70487	0.454;0.957;0.969	D	0.98296	1.0516	10	0.62326	D	0.03	.	13.2788	0.60202	0.0:0.9214:0.0:0.0786	.	1296;1315;1315	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	L	1315;1296;1266;1247;922;1296;1315	ENSP00000356542:F1315L;ENSP00000434814:F1296L;ENSP00000350183:F1266L;ENSP00000351101:F1247L;ENSP00000356539:F922L;ENSP00000353222:F1296L;ENSP00000356545:F1315L	ENSP00000350183:F1266L	F	+	3	2	CACNA1E	179991112	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.586000	0.23894	2.468000	0.83385	0.650000	0.86243	TTC		0.448	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		69	115	1	0	2.165e-29	1	3.08197e-29	69	115					A	181724489	C	A	181724489	3	1	48	1	0	0	0	0	1	0	0	0	2544	912	32	2	4055	2	CACNA1E	1	181724489	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	21834	181724489	67526132	318	4786										
CACNA1E	777	broad.mit.edu	37	chr1	181727969	181727969	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaccatggtgttttccctgGaatgtgtcctgaaggtcatc	10	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:181727969G>T	ENST00000367573.2	+	32	4570	c.4570G>T	c.(4570-4572)Gaa>Taa	p.E1524*	CACNA1E_ENST00000526775.1_Nonsense_Mutation_p.E1505*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.E1456*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.E1131*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.E1524*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.E1505*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.E1475*	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1524					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						GTTTTCCCTGGAATGTGTCCT	0.478																																						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.(4513-4515)Gaa>Taa		calcium channel, voltage-dependent, R type, alpha 1E subunit							249	224	232					1																	181727969		1949	4157	6106	SO:0001587	stop_gained	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181727969G>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.4570G>T	1.37:g.181727969G>T	ENSP00000356545:p.Glu1524*		Somatic				CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.E1456*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.E1524*|CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.E1524*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.E1505*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.E1475*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.E1131*	p.E1505*	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			31	4678	+			1524					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Nonsense_Mutation	SNP	ENST00000367573.2	37	c.4513G>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	47	13.202721	0.99727	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0045	0.92844	0.0:0.0:1.0:0.0	.	.	.	.	X	1524;1505;1475;1456;1131;1505;1524	.	ENSP00000350183:E1475X	E	+	1	0	CACNA1E	179994592	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.338000	0.96553	2.583000	0.87209	0.561000	0.74099	GAA		0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		22	37	1	0	0.000375601	1	0.000399622	22	37					T	181727969	G	T	181727969	4	4	48	1	0	0	0	0	0	1	0	0	2544	1175	41	2	4696	2	CACNA1E	1	181727969	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3480	181727969	67522652	319	4787										
DHX9	1660	broad.mit.edu	37	chr1	182821465	182821465	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggacctcttcctccacatcTggctctcaaagcaggtaagg	9	13	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:182821465T>G	ENST00000367549.3	+	4	460	c.350T>G	c.(349-351)cTg>cGg	p.L117R		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	117	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)			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						CCTCCACATCTGGCTCTCAAA	0.468																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				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.(349-351)cTg>cGg		DEAH (Asp-Glu-Ala-His) box helicase 9							71	68	69					1																	182821465		1965	4147	6112	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.chr1:182821465T>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.350T>G	1.37:g.182821465T>G	ENSP00000356520:p.Leu117Arg		Somatic					p.L117R	NM_001357.4	NP_001348.2	WXS	Illumina GAIIx	Phase_I	Q08211	DHX9_HUMAN			4	460	+			117			Interaction with CREBBP.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.350T>G	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.332878	0.24167	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.04083	3.71	4.46	4.46	0.54185	.	0.000000	0.56097	D	0.000033	T	0.12008	0.0292	M	0.68952	2.095	0.49687	D	0.999811	D	0.55172	0.97	P	0.56088	0.791	T	0.24154	-1.0168	10	0.13853	T	0.58	.	11.5754	0.50858	0.0:0.0:0.0:1.0	.	117	Q08211	DHX9_HUMAN	R	117	ENSP00000356520:L117R	ENSP00000356520:L117R	L	+	2	0	DHX9	181088088	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	4.942000	0.63547	1.782000	0.52362	0.477000	0.44152	CTG		0.468	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		12	23	0	0	0	1	0	12	23					G	182821465	T	G	182821465	3	3	48	1	0	0	0	0	1	0	0	0	4518	1580	55	4	360	4	DHX9	1	182821465	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1093496	182821465	66429156	320	4788										
DHX9	1660	broad.mit.edu	37	chr1	182848417	182848417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catgacaccagagatgttccGaacaccattgcatgaaattg	8	10	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:182848417G>A	ENST00000367549.3	+	21	2494	c.2384G>A	c.(2383-2385)cGa>cAa	p.R795Q	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	795	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			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						GAGATGTTCCGAACACCATTG	0.398																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				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.(2383-2385)cGa>cAa		DEAH (Asp-Glu-Ala-His) box helicase 9							178	161	166					1																	182848417		1878	4117	5995	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.chr1:182848417G>A	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.2384G>A	1.37:g.182848417G>A	ENSP00000356520:p.Arg795Gln		Somatic				DHX9_ENST00000485081.1_3'UTR	p.R795Q	NM_001357.4	NP_001348.2	WXS	Illumina GAIIx	Phase_I	Q08211	DHX9_HUMAN			21	2494	+			795			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.2384G>A	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	36	5.602521	0.96614	.	.	ENSG00000135829	ENST00000367549	T	0.02236	4.38	5.64	5.64	0.86602	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.18841	0.0452	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.00770	-1.1573	10	0.87932	D	0	.	19.691	0.96000	0.0:0.0:1.0:0.0	.	74;795	B3KU66;Q08211	.;DHX9_HUMAN	Q	795	ENSP00000356520:R795Q	ENSP00000356520:R795Q	R	+	2	0	DHX9	181115040	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	9.154000	0.94694	2.671000	0.90904	0.585000	0.79938	CGA		0.398	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		22	65	0	0	0	1	0	22	65					A	182848417	G	A	182848417	3	1	48	1	0	0	0	0	1	0	0	0	4518	1058	37	1	2462	1	DHX9	1	182848417	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	26952	182848417	66402204	321	4789										
LAMC1	3915	broad.mit.edu	37	chr1	183102561	183102561	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtatgaacaagcgaagaacaTctcacaggatctggaaaaac	9	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:183102561T>C	ENST00000258341.4	+	22	3982	c.3725T>C	c.(3724-3726)aTc>aCc	p.I1242T		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1242	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)			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						GCGAAGAACATCTCACAGGAT	0.443																																						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.(3724-3726)aTc>aCc		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						136	132	133					1																	183102561		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.chr1:183102561T>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.3725T>C	1.37:g.183102561T>C	ENSP00000258341:p.Ile1242Thr		Somatic					p.I1242T	NM_002293.3	NP_002284.3	WXS	Illumina GAIIx	Phase_I	P11047	LAMC1_HUMAN			22	3982	+			1242			Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.3725T>C	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.699797	0.30142	.	.	ENSG00000135862	ENST00000258341	T	0.21191	2.02	5.41	5.41	0.78517	.	0.247767	0.39615	N	0.001316	T	0.21761	0.0524	L	0.51422	1.61	0.52501	D	0.999957	B	0.11235	0.004	B	0.09377	0.004	T	0.02877	-1.1099	10	0.25751	T	0.34	.	15.3875	0.74714	0.0:0.0:0.0:1.0	.	1242	P11047	LAMC1_HUMAN	T	1242	ENSP00000258341:I1242T	ENSP00000258341:I1242T	I	+	2	0	LAMC1	181369184	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.415000	0.66411	2.173000	0.68751	0.460000	0.39030	ATC		0.443	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		45	91	0	0	0	1	0	45	91					C	183102561	T	C	183102561	3	2	48	1	0	0	0	0	1	0	0	0	8623	1435	50	4	3811	4	LAMC1	1	183102561	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	254144	183102561	66148060	322	4790										
SMG7	9887	broad.mit.edu	37	chr1	183502819	183502819	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttttttcaagtgtcttttCttggcatcctgtgcaagtgt	8	7	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:183502819C>A	ENST00000347615.2	+	10	1134	c.1015C>A	c.(1015-1017)Ctt>Att	p.L339I	SMG7_ENST00000508461.1_Missense_Mutation_p.L297I|SMG7_ENST00000456731.2_Missense_Mutation_p.L297I|SMG7_ENST00000515829.2_Missense_Mutation_p.L339I|SMG7_ENST00000367537.3_Missense_Mutation_p.L368I|SMG7_ENST00000507469.1_Missense_Mutation_p.L339I	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	339					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						AGTGTCTTTTCTTGGCATCCT	0.383																																						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.(1102-1104)Ctt>Att		SMG7 nonsense mediated mRNA decay factor							62	65	64					1																	183502819		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183502819C>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.1015C>A	1.37:g.183502819C>A	ENSP00000340766:p.Leu339Ile		Somatic				SMG7_ENST00000507469.1_Missense_Mutation_p.L339I|SMG7_ENST00000347615.2_Missense_Mutation_p.L339I|SMG7_ENST00000515829.2_Missense_Mutation_p.L339I|SMG7_ENST00000508461.1_Missense_Mutation_p.L297I|SMG7_ENST00000456731.2_Missense_Mutation_p.L297I	p.L368I			WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			11	1297	+			339					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.1102C>A	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043230	0.75732	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	L	0.54323	1.7	0.58432	D	0.999998	D;D;D;P;P;B	0.76494	0.996;0.999;0.999;0.488;0.722;0.339	D;D;D;B;B;B	0.77557	0.977;0.984;0.99;0.275;0.402;0.205	T	0.52638	-0.8549	10	0.56958	D	0.05	-12.3253	12.8948	0.58093	0.0:0.926:0.0:0.074	.	297;368;297;339;339;339	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	I	297;368;297;297;339;339;339	ENSP00000407629:L297I;ENSP00000356507:L368I;ENSP00000426915:L297I;ENSP00000388390:L297I;ENSP00000340766:L339I;ENSP00000425133:L339I;ENSP00000421358:L339I	ENSP00000340766:L339I	L	+	1	0	SMG7	181769442	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.571000	0.67404	2.627000	0.88993	0.655000	0.94253	CTT		0.383	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		16	21	1	0	2.32078e-09	1	2.7896e-09	16	21					A	183502819	C	A	183502819	3	1	48	1	0	0	0	0	1	0	0	0	14813	913	32	2	1053	2	SMG7	1	183502819	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	400258	183502819	65747802	323	4791										
FAM129A	116496	broad.mit.edu	37	chr1	184787866	184787866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacgtacttcactgaatcccGagctcactggtcccatgagc	8	15	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:184787866G>A	ENST00000367511.3	-	9	1272	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	FAM129A_ENST00000487074.1_5'UTR|RNU7-13P_ENST00000516413.1_RNA	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	360					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)		p.S360*(1)		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						ACTGAATCCCGAGCTCACTGG	0.542																																						ENST00000367511.3																			1	Substitution - Nonsense(1)	p.S360*(1)	lung(1)	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.(1078-1080)tCg>tTg		family with sequence similarity 129, member A							178	171	173					1																	184787866		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184787866G>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.1079C>T	1.37:g.184787866G>A	ENSP00000356481:p.Ser360Leu		Somatic				FAM129A_ENST00000487074.1_5'UTR	p.S360L	NM_052966.2	NP_443198.1	WXS	Illumina GAIIx	Phase_I	Q9BZQ8	NIBAN_HUMAN			9	1272	-			360					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.1079C>T	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998161	0.74818	.	.	ENSG00000135842	ENST00000367511	T	0.11821	2.74	4.86	4.86	0.63082	.	0.299559	0.33180	N	0.005190	T	0.30978	0.0782	L	0.46157	1.445	0.40506	D	0.980698	D	0.89917	1.0	D	0.85130	0.997	T	0.01591	-1.1317	10	0.40728	T	0.16	-12.4499	16.5242	0.84326	0.0:0.0:1.0:0.0	.	360	Q9BZQ8	NIBAN_HUMAN	L	360	ENSP00000356481:S360L	ENSP00000356481:S360L	S	-	2	0	FAM129A	183054489	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	6.497000	0.73674	2.389000	0.81357	0.557000	0.71058	TCG		0.542	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			22	157	0	0	0	1	0	22	157					A	184787866	G	A	184787866	3	1	48	1	0	0	0	0	1	0	0	0	5441	1059	37	1	1731	1	FAM129A	1	184787866	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1285047	184787866	64462755	324	4792										
RNF2	6045	broad.mit.edu	37	chr1	185069003	185069003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttagctttagaagaacttcGaagcaaaggtgaatcaaacc	9	7	1	3	rs181445322		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:185069003G>A	ENST00000367510.3	+	6	1106	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	RNF2_ENST00000367509.4_Missense_Mutation_p.R201Q	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	273					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		GAAGAACTTCGAAGCAAAGGT	0.393													G|||	1	0.000199681	0	0.0014	5008	,	,		17281	0		0	False		,,,				2504	0					ENST00000367510.3																			0				breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14						c.(817-819)cGa>cAa		ring finger protein 2							94	94	94					1																	185069003		2203	4300	6503	SO:0001583	missense	6045				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr1:185069003G>A	BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"RING-type (C3HC4) zinc fingers"	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.818G>A	1.37:g.185069003G>A	ENSP00000356480:p.Arg273Gln		Somatic				RNF2_ENST00000367509.4_Missense_Mutation_p.R201Q	p.R273Q	NM_007212.3	NP_009143.1	WXS	Illumina GAIIx	Phase_I	Q99496	RING2_HUMAN		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)	6	1106	+		Breast(1374;0.000496)	273					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000367510.3	37	c.818G>A	CCDS1365.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	9.524	1.109177	0.20714	.	.	ENSG00000121481	ENST00000367510;ENST00000367509	D	0.84516	-1.86	5.83	3.92	0.45320	.	0.051265	0.85682	N	0.000000	T	0.73194	0.3556	N	0.25647	0.755	0.53005	D	0.999961	B;B	0.14012	0.003;0.009	B;B	0.01281	0.0;0.0	T	0.62714	-0.6796	10	0.08837	T	0.75	0.3111	11.8513	0.52413	0.1454:0.0:0.8546:0.0	.	201;273	B3KRH1;Q99496	.;RING2_HUMAN	Q	273;201	ENSP00000356480:R273Q	ENSP00000356479:R201Q	R	+	2	0	RNF2	183335626	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.262000	0.95591	0.776000	0.33473	-0.142000	0.14014	CGA		0.393	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1	NM_007212		27	52	0	0	0	1	0	27	52					A	185069003	G	A	185069003	3	1	48	1	0	0	0	0	1	0	0	0	13487	1058	37	1	836	1	RNF2	1	185069003	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	281137	185069003	64181618	325	4793										
IVNS1ABP	10625	broad.mit.edu	37	chr1	185278208	185278208	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcaaatttaacgtgagaaaTtccatgaggatcactatcac	6	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:185278208T>G	ENST00000367498.3	-	4	830	c.208A>C	c.(208-210)Att>Ctt	p.I70L	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.I70L|IVNS1ABP_ENST00000392007.3_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	70	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ACGTGAGAAATTCCATGAGGA	0.378																																						ENST00000367498.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(208-210)Att>Ctt		influenza virus NS1A binding protein							54	56	55					1																	185278208		2203	4300	6503	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185278208T>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.208A>C	1.37:g.185278208T>G	ENSP00000356468:p.Ile70Leu		Somatic				IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.I70L|IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	p.I70L	NM_006469.4	NP_006460.2	WXS	Illumina GAIIx	Phase_I	Q9Y6Y0	NS1BP_HUMAN			4	830	-			70			BTB.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.208A>C	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.024779	0.35701	.	.	ENSG00000116679	ENST00000367498;ENST00000367497	T;T	0.66638	-0.22;-0.22	5.67	2.71	0.32032	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.228678	0.45361	D	0.000377	T	0.45256	0.1333	N	0.12443	0.215	0.80722	D	1	B	0.13594	0.008	B	0.09377	0.004	T	0.23084	-1.0198	10	0.48119	T	0.1	.	9.1733	0.37096	0.0:0.6359:0.0:0.3641	.	70	Q9Y6Y0	NS1BP_HUMAN	L	70	ENSP00000356468:I70L;ENSP00000356467:I70L	ENSP00000356467:I70L	I	-	1	0	IVNS1ABP	183544831	0.999000	0.42202	1.000000	0.80357	0.973000	0.67179	0.711000	0.25764	0.292000	0.22492	-0.353000	0.07706	ATT		0.378	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		11	21	0	0	0	1	0	11	21					G	185278208	T	G	185278208	3	3	48	1	0	0	0	0	1	0	0	0	7939	1493	52	4	1768	4	IVNS1ABP	1	185278208	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	209205	185278208	63972413	326	4794										
HMCN1	83872	broad.mit.edu	37	chr1	185970453	185970453	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctccagtaattaaagataaaGaacaagttacaaatgtgtcg	7	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:185970453G>T	ENST00000271588.4	+	27	4322	c.4093G>T	c.(4093-4095)Gaa>Taa	p.E1365*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.E1365*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1365	Ig-like C2-type 11.				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						TAAAGATAAAGAACAAGTTAC	0.343																																						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.(4093-4095)Gaa>Taa		hemicentin 1							81	83	82					1																	185970453		2202	4300	6502	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185970453G>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.4093G>T	1.37:g.185970453G>T	ENSP00000271588:p.Glu1365*		Somatic				HMCN1_ENST00000367492.2_Nonsense_Mutation_p.E1365*	p.E1365*	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			27	4322	+			1365			Ig-like C2-type 11.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.4093G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	46	12.138375	0.99639	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.72	5.72	0.89469	.	0.266387	0.43416	D	0.000563	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	19.8722	0.96854	0.0:0.0:1.0:0.0	.	.	.	.	X	1365	.	ENSP00000271588:E1365X	E	+	1	0	HMCN1	184237076	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	6.366000	0.73095	2.700000	0.92200	0.585000	0.79938	GAA		0.343	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		17	35	1	0	1.99824e-07	1	2.29918e-07	17	35					T	185970453	G	T	185970453	4	4	48	1	0	0	0	0	0	1	0	0	7229	943	33	2	4199	2	HMCN1	1	185970453	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	692245	185970453	63280168	327	4795										
HMCN1	83872	broad.mit.edu	37	chr1	186055441	186055441	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtggtgaacaatttcatctCtttgacctgtgaggtctctg	10	9	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186055441C>A	ENST00000271588.4	+	58	9177	c.8948C>A	c.(8947-8949)tCt>tAt	p.S2983Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.S2983Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2983	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)			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						AATTTCATCTCTTTGACCTGT	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.(8947-8949)tCt>tAt		hemicentin 1							135	128	130					1																	186055441		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186055441C>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.8948C>A	1.37:g.186055441C>A	ENSP00000271588:p.Ser2983Tyr		Somatic				HMCN1_ENST00000367492.2_Missense_Mutation_p.S2983Y	p.S2983Y	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			58	9177	+			2983			Ig-like C2-type 28.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.8948C>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939904	0.92526	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68331	-0.32;-0.32	5.59	5.59	0.84812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047965	0.85682	D	0.000000	T	0.82038	0.4950	M	0.71206	2.165	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.82002	-0.0673	10	0.52906	T	0.07	.	19.6094	0.95599	0.0:1.0:0.0:0.0	.	2983	Q96RW7	HMCN1_HUMAN	Y	2983	ENSP00000271588:S2983Y;ENSP00000356462:S2983Y	ENSP00000271588:S2983Y	S	+	2	0	HMCN1	184322064	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.452000	0.80683	2.626000	0.88956	0.563000	0.77884	TCT		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		18	29	1	0	1.99824e-07	1	2.29918e-07	18	29					A	186055441	C	A	186055441	3	1	48	1	0	0	0	0	1	0	0	0	7229	913	32	2	9178	2	HMCN1	1	186055441	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	84988	186055441	63195180	328	4796										
PRG4	10216	broad.mit.edu	37	chr1	186275466	186275466	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagtaaaagataacaagaaGaacagaactaaaaagaaacc	6	7	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186275466G>T	ENST00000445192.2	+	7	660	c.615G>T	c.(613-615)aaG>aaT	p.K205N	PRG4_ENST00000367484.3_Missense_Mutation_p.K164N|PRG4_ENST00000367483.4_Missense_Mutation_p.K164N|PRG4_ENST00000367485.4_Missense_Mutation_p.K112N|PRG4_ENST00000367486.3_Missense_Mutation_p.K162N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	205					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						ATAACAAGAAGAACAGAACTA	0.343																																						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.(613-615)aaG>aaT		proteoglycan 4							105	110	109					1																	186275466		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275466G>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.615G>T	1.37:g.186275466G>T	ENSP00000399679:p.Lys205Asn		Somatic				PRG4_ENST00000367483.4_Missense_Mutation_p.K164N|PRG4_ENST00000367485.4_Missense_Mutation_p.K112N|PRG4_ENST00000367484.3_Missense_Mutation_p.K164N|PRG4_ENST00000367486.3_Missense_Mutation_p.K162N	p.K205N	NM_005807.3	NP_005798.2	WXS	Illumina GAIIx	Phase_I	Q92954	PRG4_HUMAN			7	660	+			205					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.615G>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	4.966	0.179405	0.09443	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000533951;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T;T	0.52057	2.94;3.24;0.68;3.12;3.3;3.24	4.07	3.06	0.35304	.	0.146164	0.30762	U	0.008921	T	0.55465	0.1922	M	0.64997	1.995	0.21861	N	0.999507	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.76575	0.988;0.988;0.946;0.988	T	0.44952	-0.9294	10	0.17369	T	0.5	-0.8643	4.261	0.10740	0.2727:0.0:0.7273:0.0	.	71;112;205;164	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	N	162;164;114;71;164;112;205	ENSP00000356456:K162N;ENSP00000356454:K164N;ENSP00000431330:K114N;ENSP00000356453:K164N;ENSP00000356455:K112N;ENSP00000399679:K205N	ENSP00000356452:K71N	K	+	3	2	PRG4	184542089	0.700000	0.27796	0.920000	0.36463	0.386000	0.30323	0.834000	0.27518	0.648000	0.30732	0.467000	0.42956	AAG		0.343	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		49	97	1	0	2.56175e-15	1	3.37031e-15	49	97					T	186275466	G	T	186275466	3	4	48	1	0	0	0	0	1	0	0	0	12493	933	33	2	637	2	PRG4	1	186275466	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	220025	186275466	62975155	329	4797										
TPR	7175	broad.mit.edu	37	chr1	186321228	186321228	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atttccttttccttcttcaaAttttctgctcttacctaaac	1	12	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186321228A>C	ENST00000367478.4	-	19	2645	c.2349T>G	c.(2347-2349)aaT>aaG	p.N783K	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	783					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)		CCTTCTTCAAATTTTCTGCTC	0.308			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(2347-2349)aaT>aaG		translocated promoter region, nuclear basket protein							87	82	84					1																	186321228		1805	4073	5878	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.chr1:186321228A>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.2349T>G	1.37:g.186321228A>C	ENSP00000356448:p.Asn783Lys		Somatic				TPR_ENST00000474852.1_5'UTR	p.N783K	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)	19	2645	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	783					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.2349T>G	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.750948	0.49257	.	.	ENSG00000047410	ENST00000367478	T	0.32988	1.43	5.75	3.47	0.39725	.	0.140114	0.64402	D	0.000005	T	0.28699	0.0711	M	0.62723	1.935	0.40840	D	0.983665	P	0.46395	0.877	B	0.40636	0.335	T	0.09037	-1.0693	10	0.52906	T	0.07	.	7.4405	0.27181	0.7091:0.0:0.2909:0.0	.	783	P12270	TPR_HUMAN	K	783	ENSP00000356448:N783K	ENSP00000356448:N783K	N	-	3	2	TPR	184587851	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.914000	0.28624	1.012000	0.39366	0.460000	0.39030	AAT		0.308	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		6	44	0	0	0	1	0	6	44					C	186321228	A	C	186321228	3	2	48	1	0	0	0	0	1	0	0	0	16431	98	4	4	4874	4	TPR	1	186321228	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	45762	186321228	62929393	330	4798										
OCLM	10896	broad.mit.edu	37	chr1	186370207	186370207	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatccaccattattgttaaaGatttaccttagcagacacat	4	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186370207G>T	ENST00000574641.1	+	1	504	c.30G>T	c.(28-30)aaG>aaT	p.K10N	C1orf27_ENST00000287859.6_Intron|C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000432021.3_Intron	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN	oculomedin	10					visual perception (GO:0007601)												TATTGTTAAAGATTTACCTTA	0.338																																						ENST00000574641.1																			0											c.(28-30)aaG>aaT		oculomedin							201	189	193					1																	186370207		1837	4087	5924	SO:0001583	missense	10896				visual perception			g.chr1:186370207G>T	AF142063	CCDS58051.1	1q31.1	2013-09-24			ENSG00000262180	ENSG00000262180			8103	protein-coding gene	gene with protein product		604301				10362512	Standard	NM_022375		Approved		uc001gry.3	Q9Y5M6	OTTHUMG00000177601	ENST00000574641.1:c.30G>T	1.37:g.186370207G>T	ENSP00000460371:p.Lys10Asn		Somatic				C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000287859.6_Intron	p.K10N	NM_022375.3	NP_071770.1	WXS	Illumina GAIIx	Phase_I	Q9Y5M6	TISR_HUMAN			1	504	+			10					Q4G0F9	Missense_Mutation	SNP	ENST00000574641.1	37	c.30G>T	CCDS58051.1																																																																																				0.338	OCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438012.1	NM_022375		31	54	1	0	9.65963e-10	1	1.17364e-09	31	54					T	186370207	G	T	186370207	3	4	48	1	0	0	0	0	1	0	0	0	10828	933	33	2	32	2	OCLM	1	186370207	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	48979	186370207	62880414	331	4799										
PDC	5132	broad.mit.edu	37	chr1	186415580	186415580	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctgctgactcgttcctttGaatctttgccattcctactc	5	13	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186415580G>T	ENST00000391997.2	-	3	278	c.191C>A	c.(190-192)tCa>tAa	p.S64*	PDC_ENST00000497198.1_Nonsense_Mutation_p.S12*|PDC_ENST00000340129.5_Nonsense_Mutation_p.S64*|PDC_ENST00000456239.2_Nonsense_Mutation_p.S12*	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	64					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of catalytic activity (GO:0043086)|phototransduction (GO:0007602)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	phospholipase inhibitor activity (GO:0004859)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TCGTTCCTTTGAATCTTTGCC	0.338																																						ENST00000391997.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7						c.(190-192)tCa>tAa		phosducin							135	130	132					1																	186415580		2203	4300	6503	SO:0001587	stop_gained	5132				G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity	g.chr1:186415580G>T	AF076464	CCDS1370.1, CCDS41447.1	1q25.2	2013-01-08			ENSG00000116703	ENSG00000116703			8759	protein-coding gene	gene with protein product		171490				8288249	Standard	NM_022576		Approved	MEKA	uc001gsa.4	P20941	OTTHUMG00000035575	ENST00000391997.2:c.191C>A	1.37:g.186415580G>T	ENSP00000375855:p.Ser64*		Somatic				PDC_ENST00000456239.2_Nonsense_Mutation_p.S12*|PDC_ENST00000340129.5_Nonsense_Mutation_p.S64*|PDC_ENST00000497198.1_Nonsense_Mutation_p.S12*	p.S64*	NM_002597.4	NP_002588.3	WXS	Illumina GAIIx	Phase_I	P20941	PHOS_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)	3	278	-		Breast(1374;1.53e-05)	64					Q14816|Q9UP22|Q9UP23	Nonsense_Mutation	SNP	ENST00000391997.2	37	c.191C>A	CCDS1370.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463595	0.63513	.	.	ENSG00000116703	ENST00000391997;ENST00000497198;ENST00000456239;ENST00000340129	.	.	.	5.36	5.36	0.76844	.	0.595385	0.17558	N	0.169934	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-39.6172	19.0908	0.93225	0.0:0.0:1.0:0.0	.	.	.	.	X	64;12;12;64	.	ENSP00000342033:S64X	S	-	2	0	PDC	184682203	1.000000	0.71417	0.584000	0.28653	0.166000	0.22503	6.988000	0.76212	2.498000	0.84270	0.591000	0.81541	TCA		0.338	PDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086347.2	NM_022577		18	27	1	0	0.000566183	1	0.00059967	18	27					T	186415580	G	T	186415580	4	4	48	1	0	0	0	0	0	1	0	0	11623	1294	45	2	557	2	PDC	1	186415580	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	45373	186415580	62835041	332	4800										
FAM5C	339479	broad.mit.edu	37	chr1	190129925	190129925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctccagttgttcataacggcGctgaaaattagaatccattg	8	9	1	2	rs147790033		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:190129925G>A	ENST00000367462.3	-	7	1288	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	BRINP3_ENST00000534846.1_Missense_Mutation_p.R251C	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	353					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)											TCATAACGGCGCTGAAAATTA	0.353																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1057-1059)Cgc>Tgc				G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	126	135	132		1057	5.8	1	1	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FAM5C	NM_199051.1	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	353/767	190129925	2,13004	2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:190129925G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1057C>T	1.37:g.190129925G>A	ENSP00000356432:p.Arg353Cys		Somatic				FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R251C	p.R353C	NM_199051.1	NP_950252.1	WXS	Illumina GAIIx	Phase_I	Q76B58	FAM5C_HUMAN			7	1288	-	Prostate(682;0.198)		353					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1057C>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.722973	0.68959	2.27E-4	1.16E-4	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.18502	2.47;2.21	5.75	5.75	0.90469	.	0.060428	0.64402	D	0.000001	T	0.23451	0.0567	L	0.43152	1.355	0.58432	D	0.999999	D;D	0.67145	0.996;0.993	P;B	0.47573	0.55;0.446	T	0.00360	-1.1790	10	0.72032	D	0.01	.	17.4294	0.87535	0.0:0.0:1.0:0.0	.	251;353	B7Z260;Q76B58	.;FAM5C_HUMAN	C	353;251	ENSP00000356432:R353C;ENSP00000438022:R251C	ENSP00000356432:R353C	R	-	1	0	FAM5C	188396548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.164000	0.77533	2.718000	0.92993	0.573000	0.79308	CGC		0.353	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		46	44	0	0	0	1	0	46	44					A	190129925	G	A	190129925	3	1	48	1	0	0	0	0	1	0	0	0	5602	1087	38	1	1251	1	FAM5C	1	190129925	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3714345	190129925	59120696	333	4801										
UCHL5	51377	broad.mit.edu	37	chr1	192993056	192993056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caatggccattaaattaaatCgaatttcaccttcactgtac	4	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:192993056C>T	ENST00000367455.4	-	8	885	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	UCHL5_ENST00000367454.1_Missense_Mutation_p.R217Q|UCHL5_ENST00000367448.1_Missense_Mutation_p.R217Q|UCHL5_ENST00000530098.2_Missense_Mutation_p.R93Q|UCHL5_ENST00000367449.1_Missense_Mutation_p.R217Q|UCHL5_ENST00000367452.4_Missense_Mutation_p.R93Q|UCHL5_ENST00000367451.4_Missense_Mutation_p.R244Q	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	217					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|forebrain morphogenesis (GO:0048853)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein deubiquitination (GO:0016579)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	endopeptidase inhibitor activity (GO:0004866)|omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|proteasome binding (GO:0070628)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						TAAATTAAATCGAATTTCACC	0.333																																						ENST00000367452.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						c.(277-279)cGa>cAa		ubiquitin carboxyl-terminal hydrolase L5							99	101	100					1																	192993056		2202	4300	6502	SO:0001583	missense	51377				DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:192993056C>T		CCDS1378.1, CCDS55668.1, CCDS55669.1, CCDS55670.1	1q32	2011-07-06			ENSG00000116750	ENSG00000116750		"INO80 complex subunits"	19678	protein-coding gene	gene with protein product	"INO80 complex subunit R"	610667				10810093, 16027725	Standard	NM_015984		Approved	UCH37, CGI-70, INO80R	uc001gsm.3	Q9Y5K5	OTTHUMG00000035561	ENST00000367455.4:c.650G>A	1.37:g.192993056C>T	ENSP00000356425:p.Arg217Gln		Somatic				UCHL5_ENST00000367455.3_Missense_Mutation_p.R217Q|UCHL5_ENST00000367451.4_Missense_Mutation_p.R244Q|UCHL5_ENST00000367448.1_Missense_Mutation_p.R217Q|UCHL5_ENST00000367454.1_Missense_Mutation_p.R217Q|UCHL5_ENST00000530098.2_Missense_Mutation_p.R93Q|UCHL5_ENST00000367449.1_Missense_Mutation_p.R217Q	p.R93Q			WXS	Illumina GAIIx	Phase_I	Q9Y5K5	UCHL5_HUMAN			8	1048	-			217					Q5LJA6|Q5LJA7|Q8TBS4|Q96BJ9|Q9H1W5|Q9P0I3|Q9UQN2	Missense_Mutation	SNP	ENST00000367455.4	37	c.278G>A	CCDS1378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.111686|4.111686	0.77210|0.77210	.|.	.|.	ENSG00000116750|ENSG00000116750	ENST00000420791|ENST00000367455;ENST00000367454;ENST00000367450;ENST00000367451;ENST00000367448;ENST00000367449;ENST00000367452;ENST00000530098;ENST00000391991;ENST00000421683	.|T;T;T;T;T;T;T;T;T	.|0.65364	.|0.85;0.85;0.85;0.85;0.85;0.85;-0.15;-0.15;0.85	5.13|5.13	4.21|4.21	0.49690|0.49690	.|Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (2);	.|0.063176	.|0.64402	.|D	.|0.000005	T|T	0.67258|0.67258	0.2874|0.2874	M|M	0.90483|0.90483	3.12|3.12	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;P;B;P;P	.|0.48407	.|0.199;0.097;0.847;0.239;0.863;0.91	.|B;B;B;B;B;B	.|0.38194	.|0.018;0.008;0.267;0.019;0.232;0.117	T|T	0.76950|0.76950	-0.2769|-0.2769	5|10	.|0.72032	.|D	.|0.01	-23.7007|-23.7007	14.2938|14.2938	0.66298|0.66298	0.0:0.927:0.0:0.073|0.0:0.927:0.0:0.073	.|.	.|93;93;217;217;217;217	.|B7Z9U9;B4DW59;Q9Y5K5-2;Q9Y5K5-4;Q9Y5K5-3;Q9Y5K5	.|.;.;.;.;.;UCHL5_HUMAN	N|Q	108|217;217;256;244;217;217;93;93;207;208	.|ENSP00000356425:R217Q;ENSP00000356424:R217Q;ENSP00000356420:R256Q;ENSP00000356421:R244Q;ENSP00000356418:R217Q;ENSP00000356419:R217Q;ENSP00000356422:R93Q;ENSP00000431171:R93Q;ENSP00000389563:R208Q	.|ENSP00000356418:R217Q	D|R	-|-	1|2	0|0	UCHL5|UCHL5	191259679|191259679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.228000|7.228000	0.78079|0.78079	1.281000|1.281000	0.44480|0.44480	0.650000|0.650000	0.86243|0.86243	GAT|CGA		0.333	UCHL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086318.3	NM_015984		8	18	0	0	0	1	0	8	18					T	192993056	C	T	192993056	3	4	48	1	0	0	0	0	1	0	0	0	16937	884	31	1	355	1	UCHL5	1	192993056	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2863131	192993056	56257565	334	4802										
TROVE2	6738	broad.mit.edu	37	chr1	193053858	193053858	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatttcacattagatatgatTtaaccataagcagcagcacg	6	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:193053858T>G	ENST00000367446.3	+	9	1824	c.1614T>G	c.(1612-1614)atT>atG	p.I538M	TROVE2_ENST00000367443.1_Intron|TROVE2_ENST00000367441.1_Missense_Mutation_p.I538M|TROVE2_ENST00000432079.1_Missense_Mutation_p.I263M|TROVE2_ENST00000416058.2_Missense_Mutation_p.I263M|TROVE2_ENST00000367444.3_Intron|TROVE2_ENST00000367445.3_Intron|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000400968.2_Missense_Mutation_p.I538M	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	538	VWFA-like domain. {ECO:0000250}.				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						TAGATATGATTTAACCATAAG	0.418																																						ENST00000432079.1																			0				biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						c.(787-789)atT>atG		TROVE domain family, member 2							147	135	139					1																	193053858		1910	4134	6044	SO:0001583	missense	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193053858T>G	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.1614T>G	1.37:g.193053858T>G	ENSP00000356416:p.Ile538Met		Somatic				TROVE2_ENST00000367443.1_Intron|TROVE2_ENST00000400968.2_Missense_Mutation_p.I538M|TROVE2_ENST00000367445.3_Intron|TROVE2_ENST00000416058.2_Missense_Mutation_p.I263M|TROVE2_ENST00000367444.3_Intron|TROVE2_ENST00000367441.1_Missense_Mutation_p.I538M|TROVE2_ENST00000367446.3_Missense_Mutation_p.I538M|TROVE2_ENST00000460715.2_3'UTR	p.I263M			WXS	Illumina GAIIx	Phase_I	P10155	RO60_HUMAN			8	1357	+			538			TROVE.		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	c.789T>G	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.518212	0.44763	.	.	ENSG00000116747	ENST00000400968;ENST00000416058;ENST00000367446;ENST00000367441	.	.	.	5.22	4.1	0.47936	.	0.049398	0.85682	D	0.000000	T	0.65606	0.2707	L	0.55834	1.745	0.47659	D	0.999483	D	0.76494	0.999	D	0.68765	0.96	T	0.64364	-0.6425	9	0.52906	T	0.07	-15.0503	6.0604	0.19835	0.144:0.0768:0.0:0.7792	.	538	P10155	RO60_HUMAN	M	538;263;538;538	.	ENSP00000356411:I538M	I	+	3	3	TROVE2	191320481	1.000000	0.71417	0.997000	0.53966	0.339000	0.28857	0.983000	0.29552	0.821000	0.34540	0.377000	0.23210	ATT		0.418	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		10	43	0	0	0	1	0	10	43					G	193053858	T	G	193053858	3	3	48	1	0	0	0	0	1	0	0	0	16591	1829	64	4	1644	4	TROVE2	1	193053858	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	60802	193053858	56196763	335	4803										
CDC73	79577	broad.mit.edu	37	chr1	193119493	193119493	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tataacagatacgatcaggaAagattcaaaggaaaagaagg	10	4	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:193119493A>C	ENST00000367435.3	+	9	1072	c.888A>C	c.(886-888)gaA>gaC	p.E296D		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	296	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						ACGATCAGGAAAGATTCAAAG	0.383																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(886-888)gaA>gaC		cell division cycle 73							118	117	118					1																	193119493		2203	4300	6503	SO:0001583	missense	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193119493A>C	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.888A>C	1.37:g.193119493A>C	ENSP00000356405:p.Glu296Asp		Somatic					p.E296D	NM_024529.4	NP_078805.3	WXS	Illumina GAIIx	Phase_I	Q6P1J9	CDC73_HUMAN			9	1072	+			296					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.888A>C	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228881	0.79576	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	T	0.66460	-0.21	5.53	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.75759	0.3893	M	0.87547	2.89	0.80722	D	1	D	0.56287	0.975	P	0.54060	0.741	T	0.74061	-0.3786	10	0.48119	T	0.1	-28.8567	7.564	0.27868	0.811:0.0:0.189:0.0	.	296	Q6P1J9	CDC73_HUMAN	D	296	ENSP00000356405:E296D	ENSP00000356405:E296D	E	+	3	2	CDC73	191386116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.046000	0.49846	0.398000	0.25338	0.533000	0.62120	GAA		0.383	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		10	26	0	0	0	1	0	10	26					C	193119493	A	C	193119493	3	2	48	1	0	0	0	0	1	0	0	0	3087	11	1	4	922	4	CDC73	1	193119493	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	65635	193119493	56131128	336	4804										
CFHR5	81494	broad.mit.edu	37	chr1	196977765	196977765	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgatatcatcaccaccattTcgagcaatctgtcaggaagg	8	10	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:196977765T>G	ENST00000256785.4	+	10	1771	c.1662T>G	c.(1660-1662)ttT>ttG	p.F554L	CFHR5_ENST00000367414.5_Missense_Mutation_p.F578L			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	554	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CACCACCATTTCGAGCAATCT	0.353																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1732-1734)ttT>ttG		complement factor H-related 5							114	105	108					1																	196977765		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196977765T>G	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1662T>G	1.37:g.196977765T>G	ENSP00000256785:p.Phe554Leu		Somatic				CFHR5_ENST00000256785.4_Missense_Mutation_p.F554L	p.F578L	NM_030787.3	NP_110414.1	WXS	Illumina GAIIx	Phase_I	Q9BXR6	FHR5_HUMAN			10	1790	+			554					Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.1734T>G	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.998268	0.35226	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	D;D	0.82711	-1.64;-1.64	4.62	3.49	0.39957	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.74253	0.3692	L	0.43701	1.375	0.22266	N	0.999247	P	0.50066	0.931	B	0.44163	0.443	T	0.60974	-0.7156	9	0.10111	T	0.7	.	6.8761	0.24147	0.0:0.1096:0.0:0.8904	.	554	Q9BXR6	FHR5_HUMAN	L	578;554	ENSP00000356384:F578L;ENSP00000256785:F554L	ENSP00000256785:F554L	F	+	3	2	CFHR5	195244388	0.001000	0.12720	0.220000	0.23810	0.019000	0.09904	-0.654000	0.05354	0.728000	0.32382	0.459000	0.35465	TTT		0.353	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		20	44	0	0	0	1	0	20	44					G	196977765	T	G	196977765	3	3	48	1	0	0	0	0	1	0	0	0	3290	1780	62	4	1700	4	CFHR5	1	196977765	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	3858272	196977765	52272856	337	4805										
F13B	2165	broad.mit.edu	37	chr1	197008508	197008508	+	Nonstop_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctctttctgccattcatttCtatgttcttaagggttcttg	6	10	6	0	rs370004456		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197008508C>A	ENST00000367412.1	-	12	2029	c.1986G>T	c.(1984-1986)taG>taT	p.*662Y	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	0					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						CCATTCATTTCTATGTTCTTA	0.313																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(1984-1986)taG>taT		coagulation factor XIII, B polypeptide		C	TYR/stop	0,4406		0,0,2203	147	164	158		1986	3.2	0	1		158	1,8595		0,1,4297	no	stop-lost	F13B	NM_001994.2		0,1,6500	AA,AC,CC		0.0116,0.0,0.0077		662/662	197008508	1,13001	2203	4298	6501	SO:0001578	stop_lost	2165				blood coagulation	extracellular region		g.chr1:197008508C>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.1986G>T	1.37:g.197008508C>A			Somatic					p.*662Y	NM_001994.2	NP_001985.2	WXS	Illumina GAIIx	Phase_I	P05160	F13B_HUMAN			12	2029	-			0					A8K3E5|Q5VYL5	Nonstop_Mutation	SNP	ENST00000367412.1	37	c.1986G>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	0.532	-0.857270	0.02630	0.0	1.16E-4	ENSG00000143278	ENST00000367412	.	.	.	4.29	3.15	0.36227	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0692	0.19879	0.0:0.1232:0.0:0.8768	.	.	.	.	Y	662	.	.	X	-	3	2	F13B	195275131	0.003000	0.15002	0.030000	0.17652	0.001000	0.01503	0.264000	0.18497	0.784000	0.33661	-0.373000	0.07131	TAG		0.313	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		10	123	1	0	2.80697e-09	1	3.36108e-09	10	123					A	197008508	C	A	197008508	4	1	48	1	0	0	0	0	0	0	0	0	5343	924	32	2	3	2	F13B	1	197008508	Nonstop_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	30743	197008508	52242113	338	4806										
ASPM	259266	broad.mit.edu	37	chr1	197073886	197073886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttttgggcttgaaagcaccGaaatcttttctgaatgataa	8	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197073886G>A	ENST00000367409.4	-	18	4751	c.4495C>T	c.(4495-4497)Cgg>Tgg	p.R1499W	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1499					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						TGAAAGCACCGAAATCTTTTC	0.313																																						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.(4495-4497)Cgg>Tgg		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							76	74	75					1																	197073886		2202	4297	6499	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197073886G>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.4495C>T	1.37:g.197073886G>A	ENSP00000356379:p.Arg1499Trp		Somatic				ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.R1499W	NM_018136.4	NP_060606.3	WXS	Illumina GAIIx	Phase_I	Q8IZT6	ASPM_HUMAN			18	4751	-			1499					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.4495C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206169	0.58343	.	.	ENSG00000066279	ENST00000367409	D	0.84589	-1.87	5.51	3.36	0.38483	.	0.000000	0.64402	D	0.000001	D	0.94735	0.8301	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95443	0.8527	10	0.87932	D	0	.	13.0363	0.58875	0.0:0.0:0.4678:0.5322	.	1499	Q8IZT6	ASPM_HUMAN	W	1499	ENSP00000356379:R1499W	ENSP00000356379:R1499W	R	-	1	2	ASPM	195340509	0.993000	0.37304	1.000000	0.80357	0.888000	0.51559	2.662000	0.46766	0.767000	0.33267	0.585000	0.79938	CGG		0.313	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		12	23	0	0	0	1	0	12	23					A	197073886	G	A	197073886	3	1	48	1	0	0	0	0	1	0	0	0	1056	1057	37	1	5982	1	ASPM	1	197073886	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	65378	197073886	52176735	339	4807										
ASPM	259266	broad.mit.edu	37	chr1	197099114	197099114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcaggattccaaagtaggcGattcagaataaacatagcca	8	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197099114G>A	ENST00000367409.4	-	8	2816	c.2560C>T	c.(2560-2562)Cgc>Tgc	p.R854C	ASPM_ENST00000294732.7_Missense_Mutation_p.R854C|ASPM_ENST00000367408.1_Missense_Mutation_p.R104C	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	854					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						CAAAGTAGGCGATTCAGAATA	0.403																																						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.(2560-2562)Cgc>Tgc		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							153	139	144					1																	197099114		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197099114G>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.2560C>T	1.37:g.197099114G>A	ENSP00000356379:p.Arg854Cys		Somatic				ASPM_ENST00000367408.1_Missense_Mutation_p.R104C|ASPM_ENST00000294732.7_Missense_Mutation_p.R854C	p.R854C	NM_018136.4	NP_060606.3	WXS	Illumina GAIIx	Phase_I	Q8IZT6	ASPM_HUMAN			8	2816	-			854					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.2560C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211535	0.95069	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.61040	0.14;0.14;0.14	5.47	5.47	0.80525	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81590	-0.0863	10	0.72032	D	0.01	.	19.2852	0.94067	0.0:0.0:1.0:0.0	.	854;854	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	C	854;854;104	ENSP00000356379:R854C;ENSP00000294732:R854C;ENSP00000356378:R104C	ENSP00000294732:R854C	R	-	1	0	ASPM	195365737	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.708000	0.92522	0.650000	0.86243	CGC		0.403	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		32	51	0	0	0	1	0	32	51					A	197099114	G	A	197099114	3	1	48	1	0	0	0	0	1	0	0	0	1056	1058	37	1	7957	1	ASPM	1	197099114	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	25228	197099114	52151507	340	4808										
ASPM	259266	broad.mit.edu	37	chr1	197111684	197111684	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgagcaactgaagctgttgtCgaagagggtgttacctcgtt	13	8	0	2	rs372072744		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197111684C>T	ENST00000367409.4	-	3	1954	c.1698G>A	c.(1696-1698)tcG>tcA	p.S566S	ASPM_ENST00000294732.7_Silent_p.S566S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	566					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						AAGCTGTTGTCGAAGAGGGTG	0.348																																						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.(1696-1698)tcG>tcA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)		C	,	1,4405	2.1+/-5.4	0,1,2202	121	127	125		1698,1698	-11.3	0	1		125	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	ASPM	NM_001206846.1,NM_018136.4	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	566/1893,566/3478	197111684	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197111684C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1698G>A	1.37:g.197111684C>T			Somatic				ASPM_ENST00000294732.7_Silent_p.S566S	p.S566S	NM_018136.4	NP_060606.3	WXS	Illumina GAIIx	Phase_I	Q8IZT6	ASPM_HUMAN			3	1954	-			566					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.1698G>A	CCDS1389.1																																																																																				0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		20	50	0	0	0	1	0	20	50					T	197111684	C	T	197111684	2	4	48	1	0	0	0	0	0	0	0	1	1056	871	31	1		1	ASPM	1	197111684	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	12570	197111684	52138937	341	4809										
ZBTB41	360023	broad.mit.edu	37	chr1	197128599	197128599	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atctagcatttgttcaggtcGaactgggtgaactatatttg	10	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197128599G>A	ENST00000367405.4	-	10	2688	c.2620C>T	c.(2620-2622)Cga>Tga	p.R874*	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	874					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						TGTTCAGGTCGAACTGGGTGA	0.408																																						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.(2620-2622)Cga>Tga		zinc finger and BTB domain containing 41							215	218	217					1																	197128599		2203	4299	6502	SO:0001587	stop_gained	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197128599G>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.2620C>T	1.37:g.197128599G>A	ENSP00000356375:p.Arg874*		Somatic				ZBTB41_ENST00000467322.1_5'UTR	p.R874*	NM_194314.2	NP_919290.2	WXS	Illumina GAIIx	Phase_I	Q5SVQ8	ZBT41_HUMAN			10	2688	-			874					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Nonsense_Mutation	SNP	ENST00000367405.4	37	c.2620C>T	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	37	6.042350	0.97231	.	.	ENSG00000177888	ENST00000367405	.	.	.	5.63	5.63	0.86233	.	0.000000	0.36200	N	0.002722	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.405	0.67075	0.0:0.0:0.8166:0.1834	.	.	.	.	X	874	.	ENSP00000356375:R874X	R	-	1	2	ZBTB41	195395222	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.475000	0.66787	2.657000	0.90304	0.591000	0.81541	CGA		0.408	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		38	98	0	0	0	1	0	38	98					A	197128599	G	A	197128599	4	1	48	1	0	0	0	0	0	1	0	0	17558	1066	37	1	113	1	ZBTB41	1	197128599	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	16915	197128599	52122022	342	4810										
CRB1	23418	broad.mit.edu	37	chr1	197390754	197390754	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgcgaaagctcctactccacTtgaaagtgatcaatcaatat	6	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197390754T>C	ENST00000367400.3	+	6	1931	c.1796T>C	c.(1795-1797)cTt>cCt	p.L599P	CRB1_ENST00000543483.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.L530P|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.L487P|CRB1_ENST00000538660.1_Missense_Mutation_p.L599P|CRB1_ENST00000544212.1_Missense_Mutation_p.L80P	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	599	Laminin G-like 1. {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						CCTACTCCACTTGAAAGTGAT	0.438																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1795-1797)cTt>cCt		crumbs homolog 1 (Drosophila)							119	112	114					1																	197390754		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.chr1:197390754T>C		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.1796T>C	1.37:g.197390754T>C	ENSP00000356370:p.Leu599Pro		Somatic				CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.L487P|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.L530P|CRB1_ENST00000538660.1_Missense_Mutation_p.L599P|CRB1_ENST00000544212.1_Missense_Mutation_p.L80P	p.L599P	NM_201253.2	NP_957705.1	WXS	Illumina GAIIx	Phase_I	P82279	CRUM1_HUMAN			6	1931	+			599			Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1796T>C	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	T	8.385	0.838486	0.16891	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367401	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.96	4.84	0.62591	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.73164	0.3552	N	0.19112	0.55	0.23611	N	0.997293	B;P;P;P;P	0.50617	0.213;0.824;0.824;0.786;0.937	B;B;B;B;P	0.47705	0.218;0.442;0.301;0.243;0.555	T	0.62153	-0.6914	9	0.31617	T	0.26	.	11.9925	0.53184	0.0:0.0672:0.0:0.9327	.	599;530;487;248;599	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	P	530;599;599;487;80;248	ENSP00000438786:L530P;ENSP00000438091:L599P;ENSP00000356370:L599P;ENSP00000356369:L487P;ENSP00000444556:L80P	ENSP00000356369:L487P	L	+	2	0	CRB1	195657377	0.984000	0.35163	0.004000	0.12327	0.007000	0.05969	4.428000	0.59894	1.083000	0.41159	0.528000	0.53228	CTT		0.438	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		27	72	0	0	0	1	0	27	72					C	197390754	T	C	197390754	3	2	48	1	0	0	0	0	1	0	0	0	3850	1609	56	4	1818	4	CRB1	1	197390754	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	262155	197390754	51859867	343	4811										
CRB1	23418	broad.mit.edu	37	chr1	197446978	197446978	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtggaaatgtggaacttgaTgccaccccctgcaatggaga	12	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197446978T>C	ENST00000367400.3	+	12	4325	c.4190T>C	c.(4189-4191)aTg>aCg	p.M1397T	CRB1_ENST00000535699.1_Missense_Mutation_p.M1373T|CRB1_ENST00000367399.2_Missense_Mutation_p.M1285T|CRB1_ENST00000538660.1_Missense_Mutation_p.M861T|CRB1_ENST00000544212.1_Missense_Mutation_p.M878T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1397					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						TGGAACTTGATGCCACCCCCT	0.522																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(4189-4191)aTg>aCg		crumbs homolog 1 (Drosophila)							100	100	100					1																	197446978		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.chr1:197446978T>C		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.4190T>C	1.37:g.197446978T>C	ENSP00000356370:p.Met1397Thr		Somatic				CRB1_ENST00000367399.2_Missense_Mutation_p.M1285T|CRB1_ENST00000535699.1_Missense_Mutation_p.M1373T|CRB1_ENST00000538660.1_Missense_Mutation_p.M861T|CRB1_ENST00000544212.1_Missense_Mutation_p.M878T	p.M1397T	NM_201253.2	NP_957705.1	WXS	Illumina GAIIx	Phase_I	P82279	CRUM1_HUMAN			12	4325	+			1397					A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.4190T>C	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.098183	0.37048	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212	D;D;D;D;D	0.86769	-1.82;-2.01;-1.67;-2.17;-1.98	5.61	-1.89	0.07689	.	.	.	.	.	T	0.78597	0.4308	L	0.41710	1.295	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.63292	-0.6670	9	0.51188	T	0.08	.	6.0477	0.19770	0.0:0.1834:0.2381:0.5784	.	861;1373;1285;1397	B7Z5T2;F5H0L2;P82279-3;P82279	.;.;.;CRUM1_HUMAN	T	1373;861;1397;1285;878	ENSP00000438786:M1373T;ENSP00000438091:M861T;ENSP00000356370:M1397T;ENSP00000356369:M1285T;ENSP00000444556:M878T	ENSP00000356369:M1285T	M	+	2	0	CRB1	195713601	0.998000	0.40836	0.000000	0.03702	0.464000	0.32679	0.612000	0.24283	-0.615000	0.05679	0.524000	0.50904	ATG		0.522	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		26	41	0	0	0	1	0	26	41					C	197446978	T	C	197446978	3	2	48	1	0	0	0	0	1	0	0	0	3850	1464	51	4	4236	4	CRB1	1	197446978	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	56224	197446978	51803643	344	4812										
NEK7	140609	broad.mit.edu	37	chr1	198231762	198231762	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcatcaaagaaatagatcttCttaaggtaattaatgaactg	7	5	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:198231762C>A	ENST00000367385.4	+	4	598	c.256C>A	c.(256-258)Ctt>Att	p.L86I	NEK7_ENST00000538004.1_Missense_Mutation_p.L86I	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	86	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)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						AATAGATCTTCTTAAGGTAAT	0.279																																						ENST00000367385.4																			0				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.(256-258)Ctt>Att		NIMA-related kinase 7							126	131	129					1																	198231762		2203	4289	6492	SO:0001583	missense	140609					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:198231762C>A	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.256C>A	1.37:g.198231762C>A	ENSP00000356355:p.Leu86Ile		Somatic				NEK7_ENST00000538004.1_Missense_Mutation_p.L86I	p.L86I	NM_133494.2	NP_598001.1	WXS	Illumina GAIIx	Phase_I	Q8TDX7	NEK7_HUMAN			4	598	+			86			Protein kinase.		A6NGT8	Missense_Mutation	SNP	ENST00000367385.4	37	c.256C>A	CCDS1394.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404051	0.96051	.	.	ENSG00000151414	ENST00000367385;ENST00000538004	T;T	0.53640	0.61;0.61	5.76	5.76	0.90799	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	0.71576	0.3356	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.73613	-0.3927	10	0.72032	D	0.01	.	19.5722	0.95425	0.0:1.0:0.0:0.0	.	86	Q8TDX7	NEK7_HUMAN	I	86	ENSP00000356355:L86I;ENSP00000444621:L86I	ENSP00000356355:L86I	L	+	1	0	NEK7	196498385	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.448000	0.60027	2.722000	0.93159	0.650000	0.86243	CTT		0.279	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2	NM_133494		20	41	1	0	4.54149e-19	1	6.16979e-19	20	41					A	198231762	C	A	198231762	3	1	48	1	0	0	0	0	1	0	0	0	10338	913	32	2	266	2	NEK7	1	198231762	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	784784	198231762	51018859	345	4813										
PTPRC	5788	broad.mit.edu	37	chr1	198682092	198682092	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttttaacaggtccaggagaGcctcagattattttttgtag	9	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:198682092G>A	ENST00000367376.2	+	12	1347	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	PTPRC_ENST00000442510.2_Silent_p.E394E|PTPRC_ENST00000348564.6_Silent_p.E233E|PTPRC_ENST00000594404.1_Silent_p.E231E|PTPRC_ENST00000352140.3_Silent_p.E344E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	392	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						GTCCAGGAGAGCCTCAGATTA	0.318																																						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.(1174-1176)gaG>gaA		protein tyrosine phosphatase, receptor type, C							94	104	101					1																	198682092		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.chr1:198682092G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1176G>A	1.37:g.198682092G>A			Somatic				PTPRC_ENST00000352140.3_Silent_p.E344E|PTPRC_ENST00000594404.1_Silent_p.E231E|PTPRC_ENST00000442510.2_Silent_p.E394E|PTPRC_ENST00000348564.6_Silent_p.E233E	p.E392E	NM_002838.4	NP_002829.3	WXS	Illumina GAIIx	Phase_I	P08575	PTPRC_HUMAN			12	1347	+			392			Fibronectin type-III 1.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.1176G>A																																																																																					0.318	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				16	39	0	0	0	1	0	16	39					A	198682092	G	A	198682092	2	1	48	1	0	0	0	0	0	0	0	1	12812	962	34	3		3	PTPRC	1	198682092	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	450330	198682092	50568529	346	4814										
NR5A2	2494	broad.mit.edu	37	chr1	200017907	200017907	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaactctcttctccattgtCgagtgggccaggagtagtat	10	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:200017907C>T	ENST00000367362.3	+	5	1317	c.1071C>T	c.(1069-1071)gtC>gtT	p.V357V	NR5A2_ENST00000544748.1_Silent_p.V285V|NR5A2_ENST00000236914.3_Silent_p.V311V	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	357	Ligand-binding.				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)					TCTCCATTGTCGAGTGGGCCA	0.458																																					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.(1069-1071)gtC>gtT		nuclear receptor subfamily 5, group A, member 2							138	137	137					1																	200017907		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:200017907C>T	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.1071C>T	1.37:g.200017907C>T			Somatic				NR5A2_ENST00000544748.1_Silent_p.V285V|NR5A2_ENST00000236914.3_Silent_p.V311V	p.V357V	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	WXS	Illumina GAIIx	Phase_I	O00482	NR5A2_HUMAN			5	1317	+	Prostate(682;0.19)		357			Ligand-binding.		B4E2P3|O95642|Q147U3	Silent	SNP	ENST00000367362.3	37	c.1071C>T	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	C	5.993	0.367075	0.11352	.	.	ENSG00000116833	ENST00000367357	.	.	.	5.33	-10.7	0.00240	.	.	.	.	.	T	0.56187	0.1968	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74453	-0.3660	4	.	.	.	.	12.9974	0.58654	0.0:0.2946:0.4846:0.2208	.	.	.	.	L	278	.	.	S	+	2	0	NR5A2	198284530	0.006000	0.16342	0.035000	0.18076	0.968000	0.65278	-1.441000	0.02409	-4.336000	0.00055	-1.073000	0.02249	TCG		0.458	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			43	82	0	0	0	1	0	43	82					T	200017907	C	T	200017907	2	4	48	1	0	0	0	0	0	0	0	1	10645	871	31	1		1	NR5A2	1	200017907	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1335815	200017907	49232714	347	4815										
CACNA1S	779	broad.mit.edu	37	chr1	201046078	201046078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgatgagggcttggggaaaGttgtcaaagttgctgcgccg	16	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:201046078G>A	ENST00000362061.3	-	12	2023	c.1797C>T	c.(1795-1797)aaC>aaT	p.N599N	CACNA1S_ENST00000367338.3_Silent_p.N599N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	599					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)	CTTGGGGAAAGTTGTCAAAGT	0.532																																						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.(1795-1797)aaC>aaT		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						194	166	175					1																	201046078		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.chr1:201046078G>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.1797C>T	1.37:g.201046078G>A			Somatic				CACNA1S_ENST00000367338.3_Silent_p.N599N	p.N599N	NM_000069.2	NP_000060.2	WXS	Illumina GAIIx	Phase_I	Q13698	CAC1S_HUMAN			12	2023	-			599					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.1797C>T	CCDS1407.1																																																																																				0.532	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		40	95	0	0	0	1	0	40	95					A	201046078	G	A	201046078	2	1	48	1	0	0	0	0	0	0	0	1	2549	1020	36	3		3	CACNA1S	1	201046078	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1028171	201046078	48204543	348	4816										
IGFN1	91156	broad.mit.edu	37	chr1	201185815	201185815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaagtataccttccgagtgCgggctgtgacctcagagggg	16	9	1	2	rs372251270|rs35669472		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:201185815C>T	ENST00000335211.4	+	16	9659	c.9529C>T	c.(9529-9531)Cgg>Tgg	p.R3177W	IGFN1_ENST00000295591.8_Missense_Mutation_p.R337W	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	720						nucleus (GO:0005634)|Z disc (GO:0030018)		p.R3177W(2)|p.R337W(2)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTCCGAGTGCGGGCTGTGAC	0.647																																						ENST00000335211.4																			4	Substitution - Missense(4)	p.R3177W(2)|p.R337W(2)	lung(4)	autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(9529-9531)Cgg>Tgg		immunoglobulin-like and fibronectin type III domain containing 1		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	47	51	50		9529	4.1	1	1		50	0,8600		0,0,4300	no	missense	IGFN1	NM_001164586.1	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	3177/3709	201185815	1,13005	2203	4300	6503	SO:0001583	missense	91156							g.chr1:201185815C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9529C>T	1.37:g.201185815C>T	ENSP00000334714:p.Arg3177Trp		Somatic				IGFN1_ENST00000295591.8_Missense_Mutation_p.R337W	p.R3177W	NM_001164586.1	NP_001158058.1	WXS	Illumina GAIIx	Phase_I					16	9659	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.9529C>T	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.36|15.36	2.809830|2.809830	0.50421|0.50421	2.27E-4|2.27E-4	0.0|0.0	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211;ENST00000295591	.|T;T	.|0.59083	.|0.29;0.29	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	.|0.263813	.|0.29948	.|N	.|0.010786	T|T	0.64294|0.64294	0.2585|0.2585	M|M	0.83312|0.83312	2.635|2.635	0.41541|0.41541	D|D	0.988515|0.988515	.|P	.|0.51240	.|0.943	.|P	.|0.48270	.|0.572	T|T	0.69617|0.69617	-0.5097|-0.5097	5|10	.|0.52906	.|T	.|0.07	.|.	9.4345|9.4345	0.38630|0.38630	0.2794:0.7206:0.0:0.0|0.2794:0.7206:0.0:0.0	.|.	.|3177	.|F8WAI1	.|.	V|W	594|3177;337	.|ENSP00000334714:R3177W;ENSP00000295591:R337W	.|ENSP00000295591:R337W	A|R	+|+	2|1	0|2	IGFN1|IGFN1	199452438|199452438	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.511000|0.511000	0.34104|0.34104	0.823000|0.823000	0.27366|0.27366	2.096000|2.096000	0.63516|0.63516	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.647	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		26	59	0	0	0	1	0	26	59					T	201185815	C	T	201185815	3	4	48	1	0	0	0	0	1	0	0	0	7599	759	27	1	9587	1	IGFN1	1	201185815	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	139737	201185815	48064806	349	4817										
SHISA4	149345	broad.mit.edu	37	chr1	201860581	201860581	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagccagtatacccatacccCcaggaccccaaagctggccc	7	19	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:201860581C>A	ENST00000362011.6	+	4	719	c.432C>A	c.(430-432)ccC>ccA	p.P144P	SHISA4_ENST00000464117.1_3'UTR|RP11-307B6.3_ENST00000414927.1_RNA	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	144	Pro-rich.					integral component of membrane (GO:0016021)				kidney(1)|lung(4)	5						ACCCATACCCCCAGGACCCCA	0.587																																						ENST00000362011.6																			0				kidney(1)|lung(4)	5						c.(430-432)ccC>ccA		shisa family member 4							110	111	111					1																	201860581		2203	4300	6503	SO:0001819	synonymous_variant	149345					integral to membrane		g.chr1:201860581C>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.432C>A	1.37:g.201860581C>A			Somatic				SHISA4_ENST00000464117.1_3'UTR	p.P144P	NM_198149.2	NP_937792.2	WXS	Illumina GAIIx	Phase_I	Q96DD7	SHSA4_HUMAN			4	719	+			144			Pro-rich.		B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7	Silent	SNP	ENST00000362011.6	37	c.432C>A	CCDS1416.1																																																																																				0.587	SHISA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087096.1	NM_198149		62	81	1	0	1.95512e-22	1	2.71716e-22	62	81					A	201860581	C	A	201860581	2	1	48	1	0	0	0	0	0	0	0	1	14297	610	22	5		5	SHISA4	1	201860581	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	674766	201860581	47390040	350	4818										
LGR6	59352	broad.mit.edu	37	chr1	202278292	202278292	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggccttctccaaggacagttTcccaaaactgaggtgaggga	12	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:202278292T>C	ENST00000367278.3	+	15	1483	c.1394T>C	c.(1393-1395)tTc>tCc	p.F465S	LGR6_ENST00000439764.2_Missense_Mutation_p.F326S|LGR6_ENST00000255432.7_Missense_Mutation_p.F413S	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	465					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AAGGACAGTTTCCCAAAACTG	0.587																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(1393-1395)tTc>tCc		leucine-rich repeat containing G protein-coupled receptor 6							92	80	84					1																	202278292		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202278292T>C	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.1394T>C	1.37:g.202278292T>C	ENSP00000356247:p.Phe465Ser		Somatic				LGR6_ENST00000255432.7_Missense_Mutation_p.F413S|LGR6_ENST00000439764.2_Missense_Mutation_p.F326S	p.F465S	NM_001017403.1	NP_001017403.1	WXS	Illumina GAIIx	Phase_I	Q9HBX8	LGR6_HUMAN			15	1483	+			465					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.1394T>C	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686693	0.88639	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.25250	5.42;4.27;1.81	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	M	0.84219	2.685	0.47994	D	0.999567	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.74348	0.982;0.983;0.976	T	0.61686	-0.7012	10	0.87932	D	0	.	15.5236	0.75885	0.0:0.0:0.0:1.0	.	326;413;465	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	S	465;413;326	ENSP00000356247:F465S;ENSP00000255432:F413S;ENSP00000387869:F326S	ENSP00000255432:F413S	F	+	2	0	LGR6	200544915	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.832000	0.86757	2.139000	0.66308	0.459000	0.35465	TTC		0.587	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		25	43	0	0	0	1	0	25	43					C	202278292	T	C	202278292	3	2	48	1	0	0	0	0	1	0	0	0	8767	1783	62	4	1599	4	LGR6	1	202278292	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	417711	202278292	46972329	351	4819										
KDM5B	10765	broad.mit.edu	37	chr1	202711856	202711856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcatcctgtgtgactaggcGaaggtgtcgcaaaagatcat	12	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:202711856G>A	ENST00000367265.3	-	17	3565	c.2401C>T	c.(2401-2403)Cgc>Tgc	p.R801C	KDM5B_ENST00000367264.2_Missense_Mutation_p.R837C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	801					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GTGACTAGGCGAAGGTGTCGC	0.443																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(2401-2403)Cgc>Tgc		lysine (K)-specific demethylase 5B							130	121	124					1																	202711856		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202711856G>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2401C>T	1.37:g.202711856G>A	ENSP00000356234:p.Arg801Cys		Somatic				KDM5B_ENST00000367264.2_Missense_Mutation_p.R837C	p.R801C	NM_006618.3	NP_006609.3	WXS	Illumina GAIIx	Phase_I	Q9UGL1	KDM5B_HUMAN			17	3565	-			801					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.2401C>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278679	0.80692	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790;ENST00000543924	T;T;T	0.50813	0.73;0.73;0.73	5.74	5.74	0.90152	Lysine-specific demethylase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71239	0.3316	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.985	T	0.73139	-0.4077	10	0.87932	D	0	-17.9716	19.9346	0.97133	0.0:0.0:1.0:0.0	.	837;801	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	C	801;643;837;643;170	ENSP00000356234:R801C;ENSP00000356233:R837C;ENSP00000235790:R643C	ENSP00000235790:R643C	R	-	1	0	KDM5B	200978479	0.951000	0.32395	0.952000	0.39060	0.921000	0.55340	2.040000	0.41203	2.712000	0.92718	0.563000	0.77884	CGC		0.443	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		38	79	0	0	0	1	0	38	79					A	202711856	G	A	202711856	3	1	48	1	0	0	0	0	1	0	0	0	8143	1058	37	1	2277	1	KDM5B	1	202711856	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	433564	202711856	46538765	352	4820										
TMEM183A	92703	broad.mit.edu	37	chr1	202985262	202985262	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acccccagcacattaaagaaTtccaaagtaagtgagaattt	6	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:202985262T>G	ENST00000367242.3	+	5	782	c.702T>G	c.(700-702)aaT>aaG	p.N234K	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3	Q8IXX5	T183A_HUMAN	transmembrane protein 183A	234						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			CATTAAAGAATTCCAAAGTAA	0.458																																						ENST00000367242.3																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7						c.(700-702)aaT>aaG		transmembrane protein 183A							74	77	76					1																	202985262		2203	4300	6503	SO:0001583	missense	92703							g.chr1:202985262T>G	BC013073	CCDS1432.1	1q31.1	2008-09-09	2006-12-18	2006-12-18	ENSG00000163444	ENSG00000163444			20173	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 37"	C1orf37			Standard	NM_138391		Approved		uc001gyu.1	Q8IXX5	OTTHUMG00000042051	ENST00000367242.3:c.702T>G	1.37:g.202985262T>G	ENSP00000356211:p.Asn234Lys		Somatic				TMEM183A_ENST00000468449.1_3'UTR	p.N234K	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3	WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(75;0.18)		5	782	+								A8K5W1|Q6NW15|Q96E06	Missense_Mutation	SNP	ENST00000367242.3	37	c.702T>G	CCDS1432.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147658	0.57151	.	.	ENSG00000163444	ENST00000367242	T	0.21031	2.03	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.30039	0.0752	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.67145	0.988;0.996;0.974;0.988	P;P;P;P	0.61658	0.806;0.892;0.663;0.806	T	0.02852	-1.1102	10	0.14656	T	0.56	-16.9464	15.3888	0.74726	0.0:0.0:0.0:1.0	.	234;234;234;234	A8K5W1;Q8IXX5-2;Q1AE95;Q8IXX5	.;.;T183B_HUMAN;T183A_HUMAN	K	234	ENSP00000356211:N234K	ENSP00000356211:N234K	N	+	3	2	TMEM183A	201251885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.638000	0.61353	2.164000	0.68074	0.533000	0.62120	AAT		0.458	TMEM183A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100129.1	NM_138391		49	68	0	0	0	1	0	49	68					G	202985262	T	G	202985262	3	3	48	1	0	0	0	0	1	0	0	0	16117	1490	52	4	720	4	TMEM183A	1	202985262	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	273406	202985262	46265359	353	4821										
CHIT1	1118	broad.mit.edu	37	chr1	203188819	203188819	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taggccagcatccctccttcCttggtgaaggggcctggagt	13	12	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:203188819C>A	ENST00000367229.1	-	8	922	c.888G>T	c.(886-888)aaG>aaT	p.K296N	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.K287N|CHIT1_ENST00000255427.3_Missense_Mutation_p.K277N	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	296					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCCCTCCTTCCTTGGTGAAGG	0.587																																						ENST00000367229.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.(886-888)aaG>aaT		chitinase 1 (chitotriosidase)							69	72	71					1																	203188819		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203188819C>A	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.888G>T	1.37:g.203188819C>A	ENSP00000356198:p.Lys296Asn		Somatic				CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.K277N|CHIT1_ENST00000535569.1_Missense_Mutation_p.K287N	p.K296N	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	WXS	Illumina GAIIx	Phase_I	Q13231	CHIT1_HUMAN			8	922	-			296					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.888G>T	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871729	0.33069	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.06068	3.35;3.35;3.35	5.2	-1.11	0.09840	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.347275	0.24527	N	0.037748	T	0.06554	0.0168	L	0.45051	1.395	0.31005	N	0.719931	B;B;B	0.30824	0.296;0.074;0.211	B;B;B	0.39152	0.292;0.052;0.29	T	0.14559	-1.0468	10	0.46703	T	0.11	-0.3964	5.5121	0.16886	0.0:0.3139:0.1493:0.5368	.	296;287;296	Q13231-3;G5EA51;Q13231	.;.;CHIT1_HUMAN	N	296;277;287	ENSP00000356198:K296N;ENSP00000255427:K277N;ENSP00000438078:K287N	ENSP00000255427:K277N	K	-	3	2	CHIT1	201455442	0.000000	0.05858	0.286000	0.24833	0.919000	0.55068	-0.928000	0.03980	-0.104000	0.12154	0.655000	0.94253	AAG		0.587	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		24	49	1	0	2.70639e-06	1	3.02606e-06	24	49					A	203188819	C	A	203188819	3	1	48	1	0	0	0	0	1	0	0	0	3348	680	24	5	528	5	CHIT1	1	203188819	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	203557	203188819	46061802	354	4822										
ATP2B4	493	broad.mit.edu	37	chr1	203691694	203691694	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accattgtttttaacaccttCgtgctgatgcagctcttcaa	6	11	2	1	rs531305517		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:203691694C>T	ENST00000357681.5	+	18	4024	c.2901C>T	c.(2899-2901)ttC>ttT	p.F967F	ATP2B4_ENST00000391954.2_Silent_p.F967F|ATP2B4_ENST00000367218.3_Silent_p.F967F|ATP2B4_ENST00000367219.3_Silent_p.F955F|ATP2B4_ENST00000341360.2_Silent_p.F967F	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	967					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)			TTAACACCTTCGTGCTGATGC	0.448																																						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.(2899-2901)ttC>ttT		ATPase, Ca++ transporting, plasma membrane 4							163	145	151					1																	203691694		2203	4300	6503	SO:0001819	synonymous_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203691694C>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.2901C>T	1.37:g.203691694C>T			Somatic				ATP2B4_ENST00000391954.2_Silent_p.F967F|ATP2B4_ENST00000367218.3_Silent_p.F967F|ATP2B4_ENST00000367219.3_Silent_p.F955F|ATP2B4_ENST00000341360.2_Silent_p.F967F	p.F967F	NM_001684.4	NP_001675.3	WXS	Illumina GAIIx	Phase_I	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		18	4024	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		967					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	ENST00000357681.5	37	c.2901C>T	CCDS1440.1																																																																																				0.448	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		25	58	0	0	0	1	0	25	58					T	203691694	C	T	203691694	2	4	48	1	0	0	0	0	0	0	0	1	1142	883	31	1		1	ATP2B4	1	203691694	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	502875	203691694	45558927	355	4823										
ZC3H11A	9877	broad.mit.edu	37	chr1	203799314	203799314	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcaaagaaaatgaaggaaaAatctaagaagcaaggtggta	11	3	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:203799314A>C	ENST00000545588.1	+	7	4510	c.683A>C	c.(682-684)aAa>aCa	p.K228T	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.K228T|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.K228T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.K228T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.K228T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	228					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGAAGGAAAAATCTAAGAAG	0.348																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(682-684)aAa>aCa		zinc finger CCCH-type containing 11A							75	83	80					1																	203799314		2203	4299	6502	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203799314A>C		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.683A>C	1.37:g.203799314A>C	ENSP00000438527:p.Lys228Thr		Somatic				ZC3H11A_ENST00000367212.3_Missense_Mutation_p.K228T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.K228T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.K228T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.K228T	p.K228T	NM_001271675.1	NP_001258604.1	WXS	Illumina GAIIx	Phase_I	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		7	4510	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		228					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.683A>C	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	A	19.41	3.821557	0.71028	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.59	5.59	0.84812	.	0.191355	0.56097	D	0.000025	T	0.65523	0.2699	M	0.66939	2.045	0.41107	D	0.985716	D	0.89917	1.0	D	0.74348	0.983	T	0.67401	-0.5680	10	0.51188	T	0.08	-21.4404	13.581	0.61903	1.0:0.0:0.0:0.0	.	228	O75152	ZC11A_HUMAN	T	228;228;174;228;228;228;228	ENSP00000356183:K228T;ENSP00000356181:K228T;ENSP00000333253:K228T;ENSP00000438527:K228T;ENSP00000356179:K228T	ENSP00000333253:K228T	K	+	2	0	ZC3H11A	202065937	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.281000	0.58965	2.250000	0.74265	0.477000	0.44152	AAA		0.348	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		38	62	0	0	0	1	0	38	62					C	203799314	A	C	203799314	3	2	48	1	0	0	0	0	1	0	0	0	17575	14	1	4	705	4	ZC3H11A	1	203799314	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	107620	203799314	45451307	356	4824										
PPP1R15B	84919	broad.mit.edu	37	chr1	204379610	204379610	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaggggtgggtaaatcttgCcccttgttagcctgttgaag	13	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:204379610C>T	ENST00000367188.4	-	1	1309	c.930G>A	c.(928-930)ggG>ggA	p.G310G	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	310					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)			GTAAATCTTGCCCCTTGTTAG	0.522																																						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.(928-930)ggG>ggA		protein phosphatase 1, regulatory subunit 15B							159	160	160					1																	204379610		2203	4300	6503	SO:0001819	synonymous_variant	84919				regulation of translation			g.chr1:204379610C>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.930G>A	1.37:g.204379610C>T			Somatic				RP11-739N20.2_ENST00000443515.1_RNA	p.G310G	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	1309	-	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)		310					Q53GQ4|Q658M2|Q6P156|Q96SN1	Silent	SNP	ENST00000367188.4	37	c.930G>A	CCDS1445.1																																																																																				0.522	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		27	191	0	0	0	1	0	27	191					T	204379610	C	T	204379610	2	4	48	1	0	0	0	0	0	0	0	1	12376	726	26	3		3	PPP1R15B	1	204379610	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	580296	204379610	44871011	357	4825										
PIK3C2B	5287	broad.mit.edu	37	chr1	204438067	204438067	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgccatagcgggaggcataGgtgcgggggggcacctgagg	20	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:204438067G>T	ENST00000367187.3	-	3	1420	c.864C>A	c.(862-864)acC>acA	p.T288T	PIK3C2B_ENST00000424712.2_Silent_p.T288T	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	288	Interaction with GRB2.				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)			GGGAGGCATAGGTGCGGGGGG	0.617																																						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.(862-864)acC>acA		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							57	65	63					1																	204438067		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.chr1:204438067G>T	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.864C>A	1.37:g.204438067G>T			Somatic				PIK3C2B_ENST00000424712.2_Silent_p.T288T	p.T288T	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)		3	1420	-	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)		288			Interaction with GRB2.		O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	c.864C>A	CCDS1446.1																																																																																				0.617	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		47	96	1	0	3.77016e-25	1	5.30521e-25	47	96					T	204438067	G	T	204438067	2	4	48	1	0	0	0	0	0	0	0	1	11919	987	35	5		5	PIK3C2B	1	204438067	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	58457	204438067	44812554	358	4826										
SLC45A3	85414	broad.mit.edu	37	chr1	205632665	205632665	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgcccagatgaagggccggCggcggccatagcgtccacgc	16	14	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:205632665C>T	ENST00000367145.3	-	3	549	c.254G>A	c.(253-255)cGc>cAc	p.R85H	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	85					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GAAGGGCCGGCGGCGGCCATA	0.647			T	"ETV1, ETV5, ELK4, ERG"	prostate																																	ENST00000367145.3				Dom	yes		1	1q32	85414	T	"solute carrier family 45, member 3"			E	"ETV1, ETV5, ELK4, ERG"		prostate	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21						c.(253-255)cGc>cAc		solute carrier family 45, member 3																																				SO:0001583	missense	85414				transmembrane transport	integral to membrane		g.chr1:205632665C>T	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"Solute carriers"	8642	protein-coding gene	gene with protein product		605097	"prostate cancer associated protein 6", "prostate cancer associated protein 2", "prostate cancer associated protein 8"	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.254G>A	1.37:g.205632665C>T	ENSP00000356113:p.Arg85His		Somatic					p.R85H	NM_033102.2	NP_149093.1	WXS	Illumina GAIIx	Phase_I	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		3	549	-	Breast(84;0.07)		85					A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	c.254G>A	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602025	0.66445	.	.	ENSG00000158715	ENST00000367145	T	0.69806	-0.43	4.86	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);	0.054265	0.64402	D	0.000001	D	0.85344	0.5675	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88339	0.2973	10	0.87932	D	0	-11.8921	18.1316	0.89603	0.0:1.0:0.0:0.0	.	85	Q96JT2	S45A3_HUMAN	H	85	ENSP00000356113:R85H	ENSP00000356113:R85H	R	-	2	0	SLC45A3	203899288	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	7.575000	0.82447	2.676000	0.91093	0.655000	0.94253	CGC		0.647	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		12	35	0	0	0	1	0	12	35					T	205632665	C	T	205632665	3	4	48	1	0	0	0	0	1	0	0	0	14657	768	27	1	1419	1	SLC45A3	1	205632665	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1194598	205632665	43617956	359	4827										
LGTN	1939	broad.mit.edu	37	chr1	206773144	206773144	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccctttgctcagctccttcAcctgtataatctgctcctgc	5	17	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:206773144A>G	ENST00000271764.2	-	9	1203	c.995T>C	c.(994-996)gTg>gCg	p.V332A	EIF2D_ENST00000367114.3_Missense_Mutation_p.V208A|EIF2D_ENST00000472709.2_5'Flank	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	332					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CAGCTCCTTCACCTGTATAAT	0.562																																						ENST00000271764.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(994-996)gTg>gCg		eukaryotic translation initiation factor 2D							139	118	125					1																	206773144		2203	4300	6503	SO:0001583	missense	1939				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	g.chr1:206773144A>G	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.995T>C	1.37:g.206773144A>G	ENSP00000271764:p.Val332Ala		Somatic				EIF2D_ENST00000367114.3_Missense_Mutation_p.V208A	p.V332A	NM_006893.2	NP_008824.2	WXS	Illumina GAIIx	Phase_I	P41214	EIF2D_HUMAN			9	1203	-			332					Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	ENST00000271764.2	37	c.995T>C	CCDS1465.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985154	0.74474	.	.	ENSG00000143486	ENST00000367114;ENST00000271764	T;T	0.49720	0.77;0.78	5.75	5.75	0.90469	.	0.054173	0.64402	D	0.000001	T	0.60222	0.2252	L	0.58583	1.82	0.80722	D	1	D;P	0.65815	0.995;0.766	P;P	0.57371	0.819;0.493	T	0.61831	-0.6982	10	0.52906	T	0.07	-12.0327	14.9021	0.70687	1.0:0.0:0.0:0.0	.	208;332	P41214-2;P41214	.;EIF2D_HUMAN	A	208;332	ENSP00000356081:V208A;ENSP00000271764:V332A	ENSP00000271764:V332A	V	-	2	0	EIF2D	204839767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.016000	0.93645	2.192000	0.70111	0.460000	0.39030	GTG		0.562	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893		10	61	0	0	0	1	0	10	61					G	206773144	A	G	206773144	3	3	48	1	0	0	0	0	1	0	0	0	8769	159	6	4	787	4	LGTN	1	206773144	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1140479	206773144	42477477	360	4828										
C4BPA	722	broad.mit.edu	37	chr1	207297270	207297270	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgatctatcttattcagattTttcttaattggctcaaccac	4	9	5	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:207297270T>G	ENST00000367070.3	+	5	626	c.432T>G	c.(430-432)ttT>ttG	p.F144L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	144	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TATTCAGATTTTTCTTAATTG	0.343																																						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.(430-432)ttT>ttG		complement component 4 binding protein, alpha							61	60	60					1																	207297270		2202	4300	6502	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207297270T>G	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"complement component 4-binding protein, alpha"	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.432T>G	1.37:g.207297270T>G	ENSP00000356037:p.Phe144Leu		Somatic					p.F144L	NM_000715.3	NP_000706.1	WXS	Illumina GAIIx	Phase_I	P04003	C4BPA_HUMAN			5	626	+			144			Sushi 2.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.432T>G	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.681924	0.47991	.	.	ENSG00000123838	ENST00000367070;ENST00000421786	T;T	0.69561	1.5;-0.41	5.9	0.898	0.19264	Complement control module (2);Sushi/SCR/CCP (3);	0.355450	0.24474	N	0.038209	T	0.65585	0.2705	M	0.77712	2.385	0.09310	N	1	B	0.23058	0.079	B	0.32864	0.154	T	0.62501	-0.6841	10	0.87932	D	0	.	7.263	0.26214	0.0:0.445:0.0:0.555	.	144	P04003	C4BPA_HUMAN	L	144	ENSP00000356037:F144L;ENSP00000403386:F144L	ENSP00000356037:F144L	F	+	3	2	C4BPA	205363893	0.032000	0.19561	0.000000	0.03702	0.008000	0.06430	0.260000	0.18424	0.149000	0.19098	0.528000	0.53228	TTT		0.343	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			8	7	0	0	0	1	0	8	7					G	207297270	T	G	207297270	3	3	48	1	0	0	0	0	1	0	0	0	2251	1838	64	4	446	4	C4BPA	1	207297270	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	524126	207297270	41953351	361	4829										
CD55	1604	broad.mit.edu	37	chr1	207495831	207495831	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtacaaatgtgaagaaagcTttgtgaaaattcctggcgag	11	6	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:207495831T>G	ENST00000367064.3	+	2	463	c.205T>G	c.(205-207)Ttt>Gtt	p.F69V	CD55_ENST00000314754.8_Missense_Mutation_p.F69V|CD55_ENST00000367063.2_Missense_Mutation_p.F69V|CD55_ENST00000391921.4_Missense_Mutation_p.F69V|CD55_ENST00000367062.4_Missense_Mutation_p.F69V|CD55_ENST00000367067.4_Missense_Mutation_p.F69V|CD55_ENST00000367065.5_Missense_Mutation_p.F69V|CD55_ENST00000391920.4_Missense_Mutation_p.F69V	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	69	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	TGAAGAAAGCTTTGTGAAAAT	0.448																																						ENST00000367064.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(205-207)Ttt>Gtt		CD55 molecule, decay accelerating factor for complement (Cromer blood group)	Chloramphenicol(DB00446)						104	109	107					1																	207495831		2203	4300	6503	SO:0001583	missense	1604				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	g.chr1:207495831T>G	BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"CD molecules", "Blood group antigens"	2665	protein-coding gene	gene with protein product		125240	"decay accelerating factor for complement (CD55, Cromer blood group system)"	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.205T>G	1.37:g.207495831T>G	ENSP00000356031:p.Phe69Val		Somatic				CD55_ENST00000314754.8_Missense_Mutation_p.F69V|CD55_ENST00000367065.5_Missense_Mutation_p.F69V|CD55_ENST00000391920.4_Missense_Mutation_p.F69V|CD55_ENST00000391921.4_Missense_Mutation_p.F69V|CD55_ENST00000367067.4_Missense_Mutation_p.F69V|CD55_ENST00000367062.4_Missense_Mutation_p.F69V|CD55_ENST00000367063.2_Missense_Mutation_p.F69V	p.F69V	NM_000574.3	NP_000565.1	WXS	Illumina GAIIx	Phase_I	P08174	DAF_HUMAN			2	463	+			69			Sushi 1.		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Missense_Mutation	SNP	ENST00000367064.3	37	c.205T>G	CCDS31006.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.934268	0.73442	.	.	ENSG00000196352	ENST00000367064;ENST00000367063;ENST00000391921;ENST00000367067;ENST00000536840;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062	T;T;T;T;T;T;T;T	0.69685	-0.42;-0.42;1.48;-0.42;-0.42;-0.42;-0.42;-0.42	5.44	5.44	0.79542	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000014	D	0.82655	0.5084	M	0.87180	2.865	0.25604	N	0.986569	D;P;D;D;D	0.71674	0.993;0.945;0.998;0.972;0.995	D;P;D;D;D	0.76071	0.936;0.87;0.987;0.926;0.982	T	0.77327	-0.2629	10	0.72032	D	0.01	.	11.9006	0.52682	0.0:0.0:0.0:1.0	.	69;69;69;69;69	B1AP15;Q14UF4;P08174-2;P08174;B1AP13	.;.;.;DAF_HUMAN;.	V	69	ENSP00000356031:F69V;ENSP00000356030:F69V;ENSP00000375788:F69V;ENSP00000356034:F69V;ENSP00000316333:F69V;ENSP00000356032:F69V;ENSP00000375787:F69V;ENSP00000356029:F69V	ENSP00000316333:F69V	F	+	1	0	CD55	205562454	0.409000	0.25368	0.034000	0.17996	0.003000	0.03518	3.680000	0.54641	2.065000	0.61736	0.528000	0.53228	TTT		0.448	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	NM_000574		11	49	0	0	0	1	0	11	49					G	207495831	T	G	207495831	3	3	48	1	0	0	0	0	1	0	0	0	3026	1609	56	4	211	4	CD55	1	207495831	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	198561	207495831	41754790	362	4830										
CR2	1380	broad.mit.edu	37	chr1	207648459	207648459	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attcccacaatgacatagtgTatgttgactgcaatcctggc	8	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:207648459T>C	ENST00000367058.3	+	13	2626	c.2437T>C	c.(2437-2439)Tat>Cat	p.Y813H	CR2_ENST00000458541.2_Missense_Mutation_p.Y786H|CR2_ENST00000367057.3_Missense_Mutation_p.Y872H|CR2_ENST00000367059.3_Missense_Mutation_p.Y813H	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	813	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGACATAGTGTATGTTGACTG	0.438																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(2614-2616)Tat>Cat		complement component (3d/Epstein Barr virus) receptor 2							176	155	162					1																	207648459		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207648459T>C	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2437T>C	1.37:g.207648459T>C	ENSP00000356025:p.Tyr813His		Somatic				CR2_ENST00000458541.2_Missense_Mutation_p.Y786H|CR2_ENST00000367058.3_Missense_Mutation_p.Y813H|CR2_ENST00000367059.3_Missense_Mutation_p.Y813H	p.Y872H	NM_001006658.2	NP_001006659.1	WXS	Illumina GAIIx	Phase_I	P20023	CR2_HUMAN			14	2803	+			938			Sushi 14.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.2614T>C	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.508968	0.00984	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	4.7	-9.39	0.00619	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.23846	0.0577	N	0.01482	-0.84	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.10450	0.005;0.002;0.004	T	0.22487	-1.0215	9	0.15499	T	0.54	.	6.3679	0.21465	0.1942:0.5639:0.0979:0.144	.	813;813;872	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	H	813;872;813;786	ENSP00000356025:Y813H;ENSP00000356024:Y872H;ENSP00000356026:Y813H;ENSP00000404222:Y786H	ENSP00000356024:Y872H	Y	+	1	0	CR2	205715082	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-4.185000	0.00278	-2.354000	0.00614	-0.274000	0.10170	TAT		0.438	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		40	53	0	0	0	1	0	40	53					C	207648459	T	C	207648459	3	2	48	1	0	0	0	0	1	0	0	0	3844	1638	57	4	2668	4	CR2	1	207648459	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	152628	207648459	41602162	363	4831										
PLXNA2	5362	broad.mit.edu	37	chr1	208269408	208269408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcagttgtaaaacttgaactCggtgctgacaaatatcttcc	8	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:208269408C>T	ENST00000367033.3	-	8	2705	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	650					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)		AACTTGAACTCGGTGCTGACA	0.483																																						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.(1948-1950)Gag>Aag		plexin A2							293	308	303					1																	208269408		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208269408C>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.1948G>A	1.37:g.208269408C>T	ENSP00000356000:p.Glu650Lys		Somatic					p.E650K	NM_025179.3	NP_079455.3	WXS	Illumina GAIIx	Phase_I	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	8	2705	-			650					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.1948G>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665379	0.67700	.	.	ENSG00000076356	ENST00000367033	T	0.00873	5.59	5.07	5.07	0.68467	.	0.097154	0.64402	D	0.000001	T	0.01254	0.0041	L	0.52364	1.645	0.80722	D	1	B	0.30584	0.286	B	0.19148	0.024	T	0.63479	-0.6628	10	0.49607	T	0.09	.	12.0232	0.53354	0.0:0.9213:0.0:0.0787	.	650	O75051	PLXA2_HUMAN	K	650	ENSP00000356000:E650K	ENSP00000356000:E650K	E	-	1	0	PLXNA2	206336031	1.000000	0.71417	0.975000	0.42487	0.995000	0.86356	5.648000	0.67930	2.635000	0.89317	0.650000	0.86243	GAG		0.483	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		115	254	0	0	0	1	0	115	254					T	208269408	C	T	208269408	3	4	48	1	0	0	0	0	1	0	0	0	12129	893	31	1	3836	1	PLXNA2	1	208269408	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	620949	208269408	40981213	364	4832										
LAMB3	3914	broad.mit.edu	37	chr1	209799080	209799080	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgctcggatctgctcaatcTtactctttgcatctaggatc	7	12	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:209799080T>G	ENST00000356082.4	-	14	2023	c.1889A>C	c.(1888-1890)aAg>aCg	p.K630T	LAMB3_ENST00000367030.3_Missense_Mutation_p.K630T|MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000391911.1_Missense_Mutation_p.K630T	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	630	Domain II.				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)		CTGCTCAATCTTACTCTTTGC	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.(1888-1890)aAg>aCg		laminin, beta 3							75	73	74					1																	209799080		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209799080T>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.1889A>C	1.37:g.209799080T>G	ENSP00000348384:p.Lys630Thr		Somatic				LAMB3_ENST00000356082.4_Missense_Mutation_p.K630T|LAMB3_ENST00000367030.3_Missense_Mutation_p.K630T	p.K630T	NM_001017402.1	NP_001017402.1	WXS	Illumina GAIIx	Phase_I	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	13	2278	-			630			Domain II.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.1889A>C	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	T	2.367	-0.345138	0.05208	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.39406	1.08;1.08;1.08	5.07	1.12	0.20585	.	0.790990	0.12313	N	0.480058	T	0.24044	0.0582	N	0.19112	0.55	0.09310	N	1	B	0.16396	0.017	B	0.11329	0.006	T	0.16928	-1.0386	10	0.49607	T	0.09	.	4.4974	0.11844	0.0:0.26:0.3069:0.4331	.	630	Q13751	LAMB3_HUMAN	T	630	ENSP00000375778:K630T;ENSP00000348384:K630T;ENSP00000355997:K630T	ENSP00000348384:K630T	K	-	2	0	LAMB3	207865703	0.030000	0.19436	0.086000	0.20670	0.010000	0.07245	0.061000	0.14366	0.778000	0.33520	0.449000	0.29647	AAG		0.612	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		31	65	0	0	0	1	0	31	65					G	209799080	T	G	209799080	3	3	48	1	0	0	0	0	1	0	0	0	8621	1609	56	4	1669	4	LAMB3	1	209799080	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1529672	209799080	39451541	365	4833										
LAMB3	3914	broad.mit.edu	37	chr1	209803245	209803245	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcggggtcaaagtgacatgtCtctgagtgcccattgcagtc	13	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:209803245C>A	ENST00000356082.4	-	10	1103	c.969G>T	c.(967-969)gaG>gaT	p.E323D	LAMB3_ENST00000367030.3_Missense_Mutation_p.E323D|LAMB3_ENST00000391911.1_Missense_Mutation_p.E323D	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	323	Laminin EGF-like 2. {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)	p.E323D(1)		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)		AGTGACATGTCTCTGAGTGCC	0.557																																						ENST00000391911.1																			1	Substitution - Missense(1)	p.E323D(1)	large_intestine(1)	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.(967-969)gaG>gaT		laminin, beta 3							86	81	82					1																	209803245		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209803245C>A	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.969G>T	1.37:g.209803245C>A	ENSP00000348384:p.Glu323Asp		Somatic				LAMB3_ENST00000356082.4_Missense_Mutation_p.E323D|LAMB3_ENST00000367030.3_Missense_Mutation_p.E323D	p.E323D	NM_001017402.1	NP_001017402.1	WXS	Illumina GAIIx	Phase_I	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	9	1358	-			323			Laminin EGF-like 2.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.969G>T	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025733	0.54683	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.61859	0.07;0.07;0.07	5.66	3.8	0.43715	EGF-like, laminin (3);	0.243327	0.43260	D	0.000595	T	0.34250	0.0891	N	0.16862	0.45	0.09310	N	1	B	0.22346	0.068	B	0.28011	0.085	T	0.16837	-1.0389	10	0.14656	T	0.56	.	3.3032	0.06990	0.1234:0.5635:0.1675:0.1457	.	323	Q13751	LAMB3_HUMAN	D	323	ENSP00000375778:E323D;ENSP00000348384:E323D;ENSP00000355997:E323D	ENSP00000348384:E323D	E	-	3	2	LAMB3	207869868	0.040000	0.19996	0.960000	0.40013	0.990000	0.78478	0.199000	0.17237	0.765000	0.33221	0.650000	0.86243	GAG		0.557	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		29	57	1	0	1.39806e-14	1	1.82523e-14	29	57					A	209803245	C	A	209803245	3	1	48	1	0	0	0	0	1	0	0	0	8621	912	32	2	2605	2	LAMB3	1	209803245	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4165	209803245	39447376	366	4834										
TRAF3IP3	80342	broad.mit.edu	37	chr1	209933532	209933532	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccaggtggggaagacgctgAggatccaacagagagagcag	17	8	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:209933532A>G	ENST00000367024.1	+	3	664	c.148A>G	c.(148-150)Agg>Ggg	p.R50G	TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R50G|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R50G|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R50G|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R50G			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	50						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GAAGACGCTGAGGATCCAACA	0.597																																						ENST00000367024.1																			0				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(148-150)Agg>Ggg		TRAF3 interacting protein 3							41	46	44					1																	209933532		2203	4300	6503	SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209933532A>G		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.148A>G	1.37:g.209933532A>G	ENSP00000355991:p.Arg50Gly		Somatic				TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R50G|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R50G|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R50G|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R50G	p.R50G			WXS	Illumina GAIIx	Phase_I	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	3	664	+			50					A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.148A>G	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414266	0.42817	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T;T	0.52983	0.64;0.84;0.68;0.84;0.68	5.4	2.94	0.34122	.	0.239095	0.37136	N	0.002234	T	0.54208	0.1844	L	0.50919	1.6	0.20563	N	0.999881	D;D;D;D	0.89917	0.999;0.999;1.0;0.982	D;D;D;P	0.83275	0.994;0.994;0.996;0.832	T	0.47861	-0.9084	10	0.07644	T	0.81	-16.2181	9.5669	0.39405	0.6581:0.3419:0.0:0.0	.	50;50;50;50	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	G	50	ENSP00000383743:R50G;ENSP00000355992:R50G;ENSP00000355993:R50G;ENSP00000355991:R50G;ENSP00000010338:R50G	ENSP00000010338:R50G	R	+	1	2	TRAF3IP3	208000155	0.715000	0.27946	0.874000	0.34290	0.951000	0.60555	1.490000	0.35573	0.294000	0.22547	0.379000	0.24179	AGG		0.597	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2			14	31	0	0	0	1	0	14	31					G	209933532	A	G	209933532	3	3	48	1	0	0	0	0	1	0	0	0	16457	295	11	4	150	4	TRAF3IP3	1	209933532	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	130287	209933532	39317089	367	4835										
IRF6	3664	broad.mit.edu	37	chr1	209974599	209974599	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttaccttaaaaatggtatTttcctcttcttgttgagggc	7	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:209974599T>G	ENST00000367021.3	-	3	332	c.160A>C	c.(160-162)Aat>Cat	p.N54H	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	54					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)			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)		AAAATGGTATTTTCCTCTTCT	0.428										HNSCC(57;0.16)																												ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.(160-162)Aat>Cat		interferon regulatory factor 6							84	90	88					1																	209974599		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.chr1:209974599T>G	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.160A>C	1.37:g.209974599T>G	ENSP00000355988:p.Asn54His	HNSCC(57;0.16)	Somatic				IRF6_ENST00000542854.1_Intron	p.N54H	NM_006147.3	NP_006138.1	WXS	Illumina GAIIx	Phase_I	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	3	332	-			54					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.160A>C	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.804770	0.70682	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.97772	-4.53;-4.53	6.17	6.17	0.99709	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.085501	0.85682	D	0.000000	D	0.98160	0.9392	L	0.59912	1.85	0.80722	D	1	D	0.63880	0.993	D	0.67382	0.951	D	0.98419	1.0576	9	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	54	O14896	IRF6_HUMAN	H	54	ENSP00000355988:N54H;ENSP00000403855:N54H	.	N	-	1	0	IRF6	208041222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.674000	0.68117	2.371000	0.80710	0.533000	0.62120	AAT		0.428	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		38	67	0	0	0	1	0	38	67					G	209974599	T	G	209974599	3	3	48	1	0	0	0	0	1	0	0	0	7843	1841	64	4	1271	4	IRF6	1	209974599	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	41067	209974599	39276022	368	4836										
SYT14	255928	broad.mit.edu	37	chr1	210187141	210187141	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagaattcacaagataaaatTtgtaagtatcgtattgctgc	7	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:210187141T>G	ENST00000472886.1	+	3	239	c.225T>G	c.(223-225)atT>atG	p.I75M	SYT14_ENST00000367015.1_Splice_Site_p.I37M|SYT14_ENST00000422431.1_Splice_Site_p.I120M|SYT14_ENST00000534859.1_Splice_Site_p.I75M|SYT14_ENST00000399639.2_Splice_Site_p.I75M|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000537238.1_Splice_Site_p.I37M|SYT14_ENST00000367019.1_Splice_Site_p.I75M			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	75					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAGATAAAATTTGTAAGTATC	0.294																																						ENST00000537238.1																			0				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37						c.e4+1		synaptotagmin XIV							73	77	75					1																	210187141		2202	4298	6500	SO:0001630	splice_region_variant	255928					integral to membrane		g.chr1:210187141T>G	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"Synaptotagmins"	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.226+1T>G	1.37:g.210187141T>G			Somatic				SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_Splice_Site_p.I120_splice|SYT14_ENST00000367019.1_Splice_Site_p.I75_splice|SYT14_ENST00000367015.1_Splice_Site_p.I37_splice|SYT14_ENST00000534859.1_Splice_Site_p.I75_splice|SYT14_ENST00000399639.2_Splice_Site_p.I75_splice|SYT14_ENST00000472886.1_Splice_Site_p.I75_splice	p.I37_splice	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	WXS	Illumina GAIIx	Phase_I	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	4	502	+			75					B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Splice_Site	SNP	ENST00000472886.1	37	c.112_splice	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	T	9.753	1.168113	0.21621	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.18657	3.31;3.21;2.2;3.53;3.21;3.48;3.53	4.96	0.204	0.15199	.	0.633406	0.14578	N	0.311049	T	0.11324	0.0276	N	0.19112	0.55	0.23862	N	0.996634	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.08055	0.001;0.001;0.001;0.003	T	0.22068	-1.0227	10	0.46703	T	0.11	2.2916	5.4005	0.16293	0.0:0.2513:0.1724:0.5764	.	103;75;75;120	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	M	120;75;75;37;75;75;37	ENSP00000389039:I120M;ENSP00000442891:I75M;ENSP00000445837:I75M;ENSP00000437423:I37M;ENSP00000355986:I75M;ENSP00000418901:I75M;ENSP00000355982:I37M	ENSP00000355982:I37M	I	+	3	3	SYT14	208253764	0.881000	0.30235	0.972000	0.41901	0.922000	0.55478	-0.280000	0.08468	-0.202000	0.10268	0.377000	0.23210	ATT		0.294	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262	Missense_Mutation	6	57	0	0	0	1	0	6	57					G	210187141	T	G	210187141	5	3	48	1	0	0	0	0	0	0	1	0	15485	1855	64	4	374	4	SYT14	1	210187141	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	212542	210187141	39063480	369	4837										
SYT14	255928	broad.mit.edu	37	chr1	210267762	210267762	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttctccccatctgtcatgtAcaccctcagaaattggggac	8	13	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:210267762A>G	ENST00000472886.1	+	5	552	c.538A>G	c.(538-540)Aca>Gca	p.T180A	SYT14_ENST00000367015.1_Missense_Mutation_p.T142A|SYT14_ENST00000422431.1_Missense_Mutation_p.T225A|SYT14_ENST00000534859.1_Missense_Mutation_p.T180A|SYT14_ENST00000399639.2_Missense_Mutation_p.T180A|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000537238.1_Missense_Mutation_p.T142A|SYT14_ENST00000367019.1_Missense_Mutation_p.T180A			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	180					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TCTGTCATGTACACCCTCAGA	0.473																																						ENST00000537238.1																			0				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37						c.(424-426)Aca>Gca		synaptotagmin XIV							108	103	104					1																	210267762		2203	4300	6503	SO:0001583	missense	255928					integral to membrane		g.chr1:210267762A>G	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"Synaptotagmins"	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.538A>G	1.37:g.210267762A>G	ENSP00000418901:p.Thr180Ala		Somatic				SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_Missense_Mutation_p.T225A|SYT14_ENST00000367019.1_Missense_Mutation_p.T180A|SYT14_ENST00000367015.1_Missense_Mutation_p.T142A|SYT14_ENST00000534859.1_Missense_Mutation_p.T180A|SYT14_ENST00000399639.2_Missense_Mutation_p.T180A|SYT14_ENST00000472886.1_Missense_Mutation_p.T180A	p.T142A	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	WXS	Illumina GAIIx	Phase_I	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	6	815	+			180					B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.424A>G	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.187377	0.38609	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.17691	3.38;3.24;2.26;3.51;3.25;3.51;3.51	5.62	5.62	0.85841	.	0.053204	0.85682	D	0.000000	T	0.15349	0.0370	L	0.50333	1.59	0.49582	D	0.9998	B;B;P;B	0.39181	0.064;0.109;0.663;0.058	B;B;B;B	0.35114	0.021;0.021;0.196;0.017	T	0.05241	-1.0897	10	0.10111	T	0.7	-15.3977	14.3668	0.66810	1.0:0.0:0.0:0.0	.	208;180;180;225	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	A	225;180;180;142;180;180;142	ENSP00000389039:T225A;ENSP00000442891:T180A;ENSP00000445837:T180A;ENSP00000437423:T142A;ENSP00000355986:T180A;ENSP00000418901:T180A;ENSP00000355982:T142A	ENSP00000355982:T142A	T	+	1	0	SYT14	208334385	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.830000	0.75319	2.140000	0.66376	0.482000	0.46254	ACA		0.473	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		21	44	0	0	0	1	0	21	44					G	210267762	A	G	210267762	3	3	48	1	0	0	0	0	1	0	0	0	15485	391	14	4	695	4	SYT14	1	210267762	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	80621	210267762	38982859	370	4838										
NEK2	4751	broad.mit.edu	37	chr1	211847747	211847747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aataatccgatcatagtaacGaacgatgtttggatgtttca	8	6	2	0	rs368396189		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:211847747G>A	ENST00000366999.4	-	2	343	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C	NEK2_ENST00000366998.3_Missense_Mutation_p.R69C|RP11-122M14.1_ENST00000415202.1_RNA|NEK2_ENST00000540251.1_Missense_Mutation_p.R26C	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	69	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TCATAGTAACGAACGATGTTT	0.403																																						ENST00000366999.4																			0				breast(2)|stomach(1)	3						c.(205-207)Cgt>Tgt		NIMA-related kinase 2							112	95	101					1																	211847747		2203	4300	6503	SO:0001583	missense	4751				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity	g.chr1:211847747G>A	U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"HsPK 21", "protein phosphatase 1, regulatory subunit 111"	604043	"NIMA (never in mitosis gene a)-related kinase 2"			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.205C>T	1.37:g.211847747G>A	ENSP00000355966:p.Arg69Cys		Somatic				NEK2_ENST00000366998.3_Missense_Mutation_p.R69C|NEK2_ENST00000540251.1_Missense_Mutation_p.R26C	p.R69C	NM_002497.3	NP_002488.1	WXS	Illumina GAIIx	Phase_I	P51955	NEK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)	2	343	-			69			Protein kinase.		Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Missense_Mutation	SNP	ENST00000366999.4	37	c.205C>T	CCDS1500.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965205	0.74131	.	.	ENSG00000117650	ENST00000366999;ENST00000540251;ENST00000366998	T;T;T	0.46063	1.65;0.88;1.65	4.41	2.33	0.28932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.110329	0.64402	D	0.000009	T	0.64627	0.2615	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.996	D;D;D	0.66716	0.943;0.946;0.91	T	0.72371	-0.4314	10	0.72032	D	0.01	.	13.4982	0.61438	0.0:0.0:0.7207:0.2793	.	69;69;69	P51955-2;P51955;P51955-4	.;NEK2_HUMAN;.	C	69;26;69	ENSP00000355966:R69C;ENSP00000440237:R26C;ENSP00000355965:R69C	ENSP00000355965:R69C	R	-	1	0	NEK2	209914370	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.623000	0.54224	0.937000	0.37394	0.563000	0.77884	CGT		0.403	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090154.1	NM_002497		12	21	0	0	0	1	0	12	21					A	211847747	G	A	211847747	3	1	48	1	0	0	0	0	1	0	0	0	10333	1058	37	1	1160	1	NEK2	1	211847747	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1579985	211847747	37402874	371	4839										
ATF3	467	broad.mit.edu	37	chr1	212792760	212792760	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcagattgaggagctcaagAacgagaagcagcatttgata	11	7	2	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:212792760A>C	ENST00000341491.4	+	4	674	c.409A>C	c.(409-411)Aac>Cac	p.N137H	ATF3_ENST00000366987.2_Missense_Mutation_p.N137H|ATF3_ENST00000366983.1_3'UTR|ATF3_ENST00000492118.1_3'UTR|ATF3_ENST00000366985.1_Missense_Mutation_p.N80H	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3	137	Leucine-zipper. {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)|endoplasmic reticulum unfolded protein response (GO:0030968)|gluconeogenesis (GO:0006094)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	Pseudoephedrine(DB00852)	GGAGCTCAAGAACGAGAAGCA	0.502																																						ENST00000341491.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(409-411)Aac>Cac		activating transcription factor 3							113	99	104					1																	212792760		2203	4300	6503	SO:0001583	missense	467					nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:212792760A>C	L19871	CCDS1506.1, CCDS41464.1, CCDS55688.1, CCDS58059.1	1q32.3	2013-01-10			ENSG00000162772	ENSG00000162772		"basic leucine zipper proteins"	785	protein-coding gene	gene with protein product		603148				7515060	Standard	NM_001674		Approved		uc021pit.1	P18847	OTTHUMG00000036747	ENST00000341491.4:c.409A>C	1.37:g.212792760A>C	ENSP00000344352:p.Asn137His		Somatic				ATF3_ENST00000366987.2_Missense_Mutation_p.N137H|ATF3_ENST00000366985.1_Missense_Mutation_p.N80H|ATF3_ENST00000492118.1_3'UTR|ATF3_ENST00000366983.1_3'UTR	p.N137H	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	WXS	Illumina GAIIx	Phase_I	P18847	ATF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	4	674	+			137			Leucine-zipper.		Q5VTZ2|Q6ICQ9|Q7Z566|Q8WYM6	Missense_Mutation	SNP	ENST00000341491.4	37	c.409A>C	CCDS1506.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.977730	0.74360	.	.	ENSG00000162772	ENST00000366981;ENST00000366987;ENST00000341491;ENST00000366985	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	6.17	6.17	0.99709	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.224684	0.52532	D	0.000075	T	0.60702	0.2289	L	0.39397	1.21	0.80722	D	1	P	0.48998	0.918	P	0.55455	0.776	T	0.60541	-0.7243	10	0.52906	T	0.07	-27.386	16.8222	0.85835	1.0:0.0:0.0:0.0	.	137	P18847	ATF3_HUMAN	H	137;137;137;80	ENSP00000355948:N137H;ENSP00000355954:N137H;ENSP00000344352:N137H;ENSP00000355952:N80H	ENSP00000344352:N137H	N	+	1	0	ATF3	210859383	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	4.521000	0.60532	2.371000	0.80710	0.533000	0.62120	AAC		0.502	ATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089296.1	NM_001674		40	65	0	0	0	1	0	40	65					C	212792760	A	C	212792760	3	2	48	1	0	0	0	0	1	0	0	0	1081	246	9	4	483	4	ATF3	1	212792760	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	945013	212792760	36457861	372	4840										
FLVCR1	28982	broad.mit.edu	37	chr1	213062579	213062579	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttctctgtgtctggatgtTtataggcatcatattaacag	8	6	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:213062579T>G	ENST00000366971.4	+	8	1703	c.1505T>G	c.(1504-1506)tTt>tGt	p.F502C	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	502					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GTCTGGATGTTTATAGGCATC	0.368																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12						c.(1504-1506)tTt>tGt		feline leukemia virus subgroup C cellular receptor 1							108	105	106					1																	213062579		2203	4300	6503	SO:0001583	missense	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213062579T>G	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"Solute carriers"	24682	protein-coding gene	gene with protein product		609144	"ataxia, posterior column 1, with retinitis pigmentosa"	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.1505T>G	1.37:g.213062579T>G	ENSP00000355938:p.Phe502Cys		Somatic				FLVCR1_ENST00000483790.1_3'UTR	p.F502C	NM_014053.3	NP_054772.1	WXS	Illumina GAIIx	Phase_I	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	8	1703	+			502					Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	37	c.1505T>G	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.1|25.1	4.602815|4.602815	0.87157|0.87157	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000366971|ENST00000419102	T|.	0.59772|.	0.24|.	5.94|5.94	5.94|5.94	0.96194|0.96194	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.045544|.	0.85682|.	D|.	0.000000|.	T|T	0.77565|0.77565	0.4149|0.4149	M|M	0.80847|0.80847	2.515|2.515	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.63880|.	0.993|.	P|.	0.55391|.	0.775|.	T|T	0.78843|0.78843	-0.2044|-0.2044	10|5	0.45353|.	T|.	0.12|.	-13.8239|-13.8239	16.0545|16.0545	0.80788|0.80788	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	502|.	Q9Y5Y0|.	FLVC1_HUMAN|.	C|V	502|301	ENSP00000355938:F502C|.	ENSP00000355938:F502C|.	F|L	+|+	2|1	0|2	FLVCR1|FLVCR1	211129202|211129202	0.977000|0.977000	0.34250|0.34250	0.913000|0.913000	0.36048|0.36048	0.996000|0.996000	0.88848|0.88848	5.672000|5.672000	0.68102|0.68102	2.272000|2.272000	0.75746|0.75746	0.455000|0.455000	0.32223|0.32223	TTT|TTA		0.368	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		11	49	0	0	0	1	0	11	49					G	213062579	T	G	213062579	3	3	48	1	0	0	0	0	1	0	0	0	5953	1841	64	4	1535	4	FLVCR1	1	213062579	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	269819	213062579	36188042	373	4841										
RPS6KC1	26750	broad.mit.edu	37	chr1	213414614	213414614	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatcaaaaaatagccccatgGaattctttaggatagacagt	8	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:213414614G>T	ENST00000366960.3	+	11	1945	c.1795G>T	c.(1795-1797)Gaa>Taa	p.E599*	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.E587*|RPS6KC1_ENST00000543354.1_Nonsense_Mutation_p.E302*|RPS6KC1_ENST00000543470.1_Nonsense_Mutation_p.E387*	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	599					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TAGCCCCATGGAATTCTTTAG	0.418																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(1795-1797)Gaa>Taa		ribosomal protein S6 kinase, 52kDa, polypeptide 1							41	44	43					1																	213414614		2203	4300	6503	SO:0001587	stop_gained	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213414614G>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1795G>T	1.37:g.213414614G>T	ENSP00000355927:p.Glu599*		Somatic				RPS6KC1_ENST00000543470.1_Nonsense_Mutation_p.E387*|RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.E587*|RPS6KC1_ENST00000543354.1_Nonsense_Mutation_p.E302*|RPS6KC1_ENST00000490299.1_3'UTR	p.E599*	NM_012424.3	NP_036556.2	WXS	Illumina GAIIx	Phase_I	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	1945	+			599					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Nonsense_Mutation	SNP	ENST00000366960.3	37	c.1795G>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	39	7.666819	0.98422	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	.	.	.	5.39	4.46	0.54185	.	0.101627	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-34.0151	16.0244	0.80532	0.0:0.1346:0.8654:0.0	.	.	.	.	X	387;599;587;302	.	ENSP00000355926:E587X	E	+	1	0	RPS6KC1	211481237	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.105000	0.94246	1.231000	0.43661	0.557000	0.71058	GAA		0.418	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		17	27	1	0	0.000566183	1	0.00059967	17	27					T	213414614	G	T	213414614	4	4	48	1	0	0	0	0	0	1	0	0	13673	1175	41	2	1837	2	RPS6KC1	1	213414614	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	352035	213414614	35836007	374	4842										
PROX1	5629	broad.mit.edu	37	chr1	214171528	214171528	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccagcaccgccgaagggctCtccttgtcgctcataaagtc	9	16	2	0	rs35176368		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:214171528C>A	ENST00000366958.4	+	2	2258	c.1650C>A	c.(1648-1650)ctC>ctA	p.L550L	PROX1_ENST00000261454.4_Silent_p.L550L|PROX1_ENST00000435016.1_Silent_p.L550L|PROX1_ENST00000498508.2_Silent_p.L550L	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	550					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCGAAGGGCTCTCCTTGTCGC	0.517																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(1648-1650)ctC>ctA		prospero homeobox 1							93	96	95					1																	214171528		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.chr1:214171528C>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1650C>A	1.37:g.214171528C>A			Somatic				PROX1_ENST00000498508.2_Silent_p.L550L|PROX1_ENST00000435016.1_Silent_p.L550L|PROX1_ENST00000261454.4_Silent_p.L550L	p.L550L	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	2258	+			550					A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	c.1650C>A	CCDS31021.1																																																																																				0.517	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		38	83	1	0	2.2871e-25	1	3.22072e-25	38	83					A	214171528	C	A	214171528	2	1	48	1	0	0	0	0	0	0	0	1	12572	900	32	2		2	PROX1	1	214171528	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	756914	214171528	35079093	375	4843										
KCTD3	51133	broad.mit.edu	37	chr1	215751415	215751415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctttttcatggttacttgCccccaccaggtattttcact	5	13	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:215751415C>T	ENST00000259154.4	+	6	682	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	130					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TGGTTACTTGCCCCCACCAGG	0.343																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(388-390)Ccc>Tcc		potassium channel tetramerization domain containing 3							149	143	145					1																	215751415		2203	4300	6503	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215751415C>T	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"potassium channel tetramerisation domain containing 3"			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.388C>T	1.37:g.215751415C>T	ENSP00000259154:p.Pro130Ser		Somatic					p.P130S	NM_016121.3	NP_057205.2	WXS	Illumina GAIIx	Phase_I	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	6	682	+			130					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.388C>T	CCDS1515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.662007|4.662007	0.88251|0.88251	.|.	.|.	ENSG00000136636|ENSG00000136636	ENST00000448333|ENST00000259154;ENST00000366945	.|T	.|0.39229	.|1.09	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63189|0.63189	0.2490|0.2490	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D;P	.|0.71674	.|0.998;0.609	.|D;B	.|0.72625	.|0.978;0.342	T|T	0.59836|0.59836	-0.7379|-0.7379	5|10	.|0.48119	.|T	.|0.1	-26.4731|-26.4731	20.0591|20.0591	0.97667|0.97667	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|130;130	.|Q9Y597-2;Q9Y597	.|.;KCTD3_HUMAN	V|S	102|130	.|ENSP00000259154:P130S	.|ENSP00000259154:P130S	A|P	+|+	2|1	0|0	KCTD3|KCTD3	213818038|213818038	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	7.433000|7.433000	0.80362|0.80362	2.739000|2.739000	0.93911|0.93911	0.491000|0.491000	0.48974|0.48974	GCC|CCC		0.343	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		8	60	0	0	0	1	0	8	60					T	215751415	C	T	215751415	3	4	48	1	0	0	0	0	1	0	0	0	8119	739	26	3	410	3	KCTD3	1	215751415	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1579887	215751415	33499206	376	4844										
KCTD3	51133	broad.mit.edu	37	chr1	215793542	215793542	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttccagactattaatttgaAcagaaatgtagaaagagctg	8	6	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:215793542A>C	ENST00000259154.4	+	18	2324	c.2030A>C	c.(2029-2031)aAc>aCc	p.N677T	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	677					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATTAATTTGAACAGAAATGTA	0.418																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(2029-2031)aAc>aCc		potassium channel tetramerization domain containing 3							65	66	66					1																	215793542		2203	4299	6502	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215793542A>C	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"potassium channel tetramerisation domain containing 3"			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.2030A>C	1.37:g.215793542A>C	ENSP00000259154:p.Asn677Thr		Somatic				KCTD3_ENST00000495537.1_3'UTR	p.N677T	NM_016121.3	NP_057205.2	WXS	Illumina GAIIx	Phase_I	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	18	2324	+			677					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.2030A>C	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.790615	0.31685	.	.	ENSG00000136636	ENST00000259154	T	0.37584	1.19	5.71	2.1	0.27182	.	0.152005	0.56097	D	0.000024	T	0.17450	0.0419	N	0.16478	0.41	0.29040	N	0.885174	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.09377	0.004;0.002;0.003;0.001	T	0.17471	-1.0368	10	0.19590	T	0.45	-15.7172	4.9886	0.14202	0.649:0.0:0.2239:0.1271	.	427;429;675;677	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	T	677	ENSP00000259154:N677T	ENSP00000259154:N677T	N	+	2	0	KCTD3	213860165	0.998000	0.40836	0.861000	0.33841	0.982000	0.71751	0.626000	0.24492	0.102000	0.17638	0.533000	0.62120	AAC		0.418	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		26	28	0	0	0	1	0	26	28					C	215793542	A	C	215793542	3	2	48	1	0	0	0	0	1	0	0	0	8119	43	2	4	2100	4	KCTD3	1	215793542	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	42127	215793542	33457079	377	4845										
USH2A	7399	broad.mit.edu	37	chr1	215802207	215802207	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacagtgagttgtccatcaaGactttcttgtcttgaatgtc	8	9	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:215802207G>T	ENST00000307340.3	-	71	15854	c.15468C>A	c.(15466-15468)gtC>gtA	p.V5156V	USH2A_ENST00000366943.2_Silent_p.V5180V|SNORD116_ENST00000365628.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5156					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)		TGTCCATCAAGACTTTCTTGT	0.502										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.(15538-15540)gtC>gtA		Usher syndrome 2A (autosomal recessive, mild)							106	105	105					1																	215802207		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215802207G>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.15468C>A	1.37:g.215802207G>T		HNSCC(13;0.011)	Somatic				USH2A_ENST00000307340.3_Silent_p.V5156V	p.V5180V			WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	72	15926	-			5156					Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.15540C>A	CCDS31025.1																																																																																				0.502	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		33	51	1	0	6.90743e-12	1	8.65044e-12	33	51					T	215802207	G	T	215802207	2	4	48	1	0	0	0	0	0	0	0	1	17051	929	33	2		2	USH2A	1	215802207	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	8665	215802207	33448414	378	4846										
USH2A	7399	broad.mit.edu	37	chr1	215820898	215820898	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgaaactgatccactcggaAgccgtactgcccacctcgtt	9	14	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:215820898A>C	ENST00000307340.3	-	67	15143	c.14757T>G	c.(14755-14757)gcT>gcG	p.A4919A	USH2A_ENST00000366943.2_Silent_p.A4919A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4919	Fibronectin type-III 34. {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)		TCCACTCGGAAGCCGTACTGC	0.547										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.(14755-14757)gcT>gcG		Usher syndrome 2A (autosomal recessive, mild)							96	79	84					1																	215820898		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215820898A>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.14757T>G	1.37:g.215820898A>C		HNSCC(13;0.011)	Somatic				USH2A_ENST00000307340.3_Silent_p.A4919A	p.A4919A			WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	67	15143	-			4919			Fibronectin type-III 34.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.14757T>G	CCDS31025.1																																																																																				0.547	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		4	56	0	0	0	1	0	4	56					C	215820898	A	C	215820898	2	2	48	1	0	0	0	0	0	0	0	1	17051	59	3	4		4	USH2A	1	215820898	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	18691	215820898	33429723	379	4847										
ESRRG	2104	broad.mit.edu	37	chr1	216680421	216680421	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catcagcatcttgccagctcGacgagggtcttccatgtgct	10	13	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:216680421G>A	ENST00000408911.3	-	7	1390	c.1237C>T	c.(1237-1239)Cga>Tga	p.R413*	ESRRG_ENST00000391890.3_Nonsense_Mutation_p.R397*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000366937.1_Nonsense_Mutation_p.R425*|ESRRG_ENST00000463665.1_Nonsense_Mutation_p.R351*|ESRRG_ENST00000361525.3_Nonsense_Mutation_p.R390*|ESRRG_ENST00000366940.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000361395.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000493748.1_Nonsense_Mutation_p.R390*|ESRRG_ENST00000493603.1_Nonsense_Mutation_p.R390*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.R390*|ESRRG_ENST00000359162.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.R390*	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	413					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TTGCCAGCTCGACGAGGGTCT	0.502																																						ENST00000391890.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(1189-1191)Cga>Tga		estrogen-related receptor gamma	Diethylstilbestrol(DB00255)						120	105	110					1																	216680421		2203	4300	6503	SO:0001587	stop_gained	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216680421G>A	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"Nuclear hormone receptors"	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.1237C>T	1.37:g.216680421G>A	ENSP00000386171:p.Arg413*		Somatic				ESRRG_ENST00000408911.3_Nonsense_Mutation_p.R413*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.R390*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.R390*|ESRRG_ENST00000493748.1_Nonsense_Mutation_p.R390*|ESRRG_ENST00000463665.1_Nonsense_Mutation_p.R351*|ESRRG_ENST00000366940.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000359162.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000366937.1_Nonsense_Mutation_p.R425*|ESRRG_ENST00000493603.1_Nonsense_Mutation_p.R390*|ESRRG_ENST00000361525.3_Nonsense_Mutation_p.R390*|ESRRG_ENST00000361395.2_Nonsense_Mutation_p.R390*	p.R397*	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	WXS	Illumina GAIIx	Phase_I	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	9	1706	-			413					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Nonsense_Mutation	SNP	ENST00000408911.3	37	c.1189C>T	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	G	40	8.268692	0.98735	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748	.	.	.	5.4	3.45	0.39498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.985	0.86338	0.0:0.0:0.8538:0.1462	.	.	.	.	X	390;390;425;413;390;390;390;390;390;397;351;390;390;390	.	ENSP00000346386:R390X	R	-	1	2	ESRRG	214747044	0.999000	0.42202	0.219000	0.23793	0.985000	0.73830	2.700000	0.47085	0.568000	0.29311	0.561000	0.74099	CGA		0.502	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		18	34	0	0	0	1	0	18	34					A	216680421	G	A	216680421	4	1	48	1	0	0	0	0	0	1	0	0	5264	1066	37	1	143	1	ESRRG	1	216680421	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	859523	216680421	32570200	380	4848										
RRP15	51018	broad.mit.edu	37	chr1	218475894	218475894	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaagaaagactagagaaaaTaaaacaggtatgttccacca	8	7	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:218475894T>G	ENST00000366932.3	+	2	428	c.398T>G	c.(397-399)aTa>aGa	p.I133R	RRP15_ENST00000491428.1_3'UTR	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	133						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)			ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		CTAGAGAAAATAAAACAGGTA	0.348																																						ENST00000366932.3																		ACBD6/RRP15(2)	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(397-399)aTa>aGa		ribosomal RNA processing 15 homolog (S. cerevisiae)							66	76	72					1																	218475894		2201	4299	6500	SO:0001583	missense	51018					mitochondrion|nucleolus	protein binding	g.chr1:218475894T>G		CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"KIAA0507"	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.398T>G	1.37:g.218475894T>G	ENSP00000355899:p.Ile133Arg		Somatic				RRP15_ENST00000491428.1_3'UTR	p.I133R	NM_016052.3	NP_057136.2	WXS	Illumina GAIIx	Phase_I	Q9Y3B9	RRP15_HUMAN		all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)	2	428	+			133						Missense_Mutation	SNP	ENST00000366932.3	37	c.398T>G	CCDS1520.2	.	.	.	.	.	.	.	.	.	.	T	1.304	-0.604057	0.03717	.	.	ENSG00000067533	ENST00000366932	T	0.38077	1.16	5.94	1.91	0.25777	.	0.252893	0.46145	N	0.000307	T	0.08268	0.0206	N	0.00926	-1.1	0.34565	D	0.712797	B	0.06786	0.001	B	0.06405	0.002	T	0.31392	-0.9945	10	0.02654	T	1	.	3.4721	0.07571	0.3173:0.0:0.389:0.2938	.	133	Q9Y3B9	RRP15_HUMAN	R	133	ENSP00000355899:I133R	ENSP00000355899:I133R	I	+	2	0	RRP15	216542517	1.000000	0.71417	0.840000	0.33206	0.515000	0.34225	1.909000	0.39917	0.101000	0.17610	-1.117000	0.02048	ATA		0.348	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095284.1	NM_016052		8	110	0	0	0	1	0	8	110					G	218475894	T	G	218475894	3	3	48	1	0	0	0	0	1	0	0	0	13702	1406	49	4	404	4	RRP15	1	218475894	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1795473	218475894	30774727	381	4849										
RAB3GAP2	25782	broad.mit.edu	37	chr1	220386308	220386308	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttatcactatatttccattTtgctgtaagaattaagatat	4	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:220386308T>C	ENST00000358951.2	-	4	423	c.307A>G	c.(307-309)Aaa>Gaa	p.K103E		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	103					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TATTTCCATTTTGCTGTAAGA	0.299																																						ENST00000358951.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(307-309)Aaa>Gaa		RAB3 GTPase activating protein subunit 2 (non-catalytic)							73	67	69					1																	220386308		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220386308T>C	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.307A>G	1.37:g.220386308T>C	ENSP00000351832:p.Lys103Glu		Somatic					p.K103E	NM_012414.3	NP_036546.2	WXS	Illumina GAIIx	Phase_I	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	4	423	-			103					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.307A>G	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.215176	0.79352	.	.	ENSG00000118873	ENST00000358951	T	0.35605	1.3	5.41	5.41	0.78517	.	0.043704	0.85682	D	0.000000	T	0.55081	0.1898	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.89917	0.997;1.0	D;D	0.87578	0.957;0.998	T	0.57723	-0.7762	10	0.87932	D	0	.	15.3976	0.74808	0.0:0.0:0.0:1.0	.	103;103	Q9H2M9-2;Q9H2M9	.;RBGPR_HUMAN	E	103	ENSP00000351832:K103E	ENSP00000351832:K103E	K	-	1	0	RAB3GAP2	218452931	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	6.915000	0.75770	2.189000	0.69895	0.460000	0.39030	AAA		0.299	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		14	14	0	0	0	1	0	14	14					C	220386308	T	C	220386308	3	2	48	1	0	0	0	0	1	0	0	0	12951	1850	64	4	4002	4	RAB3GAP2	1	220386308	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1910414	220386308	28864313	382	4850										
DUSP10	11221	broad.mit.edu	37	chr1	221879708	221879708	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgggctgaggtagcaagctCgaggccgcggatgcgccgcc	17	12	0	1	rs373881838		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:221879708C>T	ENST00000366899.3	-	3	1150	c.912G>A	c.(910-912)tcG>tcA	p.S304S	DUSP10_ENST00000323825.3_5'UTR|DUSP10_ENST00000544095.1_5'UTR|DUSP10_ENST00000468085.1_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	304					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GTAGCAAGCTCGAGGCCGCGG	0.592																																						ENST00000366899.3																			0				NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(910-912)tcG>tcA		dual specificity phosphatase 10							77	85	82					1																	221879708		2203	4300	6503	SO:0001819	synonymous_variant	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221879708C>T	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.912G>A	1.37:g.221879708C>T			Somatic				DUSP10_ENST00000323825.3_5'UTR|DUSP10_ENST00000544095.1_5'UTR|DUSP10_ENST00000468085.1_5'UTR	p.S304S	NM_007207.4	NP_009138.1	WXS	Illumina GAIIx	Phase_I	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	3	1150	-			304					D3DTB4|Q6GSI4|Q9H9Z5	Silent	SNP	ENST00000366899.3	37	c.912G>A	CCDS1528.1																																																																																				0.592	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		50	98	0	0	0	1	0	50	98					T	221879708	C	T	221879708	2	4	48	1	0	0	0	0	0	0	0	1	4812	871	31	1		1	DUSP10	1	221879708	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1493400	221879708	27370913	383	4851										
HHIPL2	79802	broad.mit.edu	37	chr1	222696106	222696106	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattcttgctgcttgtaggaGaagccagcttcttggaggag	13	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:222696106G>T	ENST00000343410.6	-	9	2070	c.2012C>A	c.(2011-2013)tCt>tAt	p.S671Y	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	671					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCTTGTAGGAGAAGCCAGCTT	0.532																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2011-2013)tCt>tAt		HHIP-like 2							144	155	151					1																	222696106		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222696106G>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.2012C>A	1.37:g.222696106G>T	ENSP00000342118:p.Ser671Tyr		Somatic				HHIPL2_ENST00000473144.1_5'UTR	p.S671Y	NM_024746.3	NP_079022.2	WXS	Illumina GAIIx	Phase_I	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	9	2070	-			671					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.2012C>A	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073395	0.36566	.	.	ENSG00000143512	ENST00000343410	T	0.15372	2.43	5.23	5.23	0.72850	.	0.590661	0.14962	N	0.288284	T	0.20820	0.0501	M	0.65975	2.015	0.28390	N	0.919115	P	0.37864	0.61	B	0.32864	0.154	T	0.13361	-1.0512	10	0.56958	D	0.05	-8.0243	14.3191	0.66473	0.0:0.0:1.0:0.0	.	671	Q6UWX4	HIPL2_HUMAN	Y	671	ENSP00000342118:S671Y	ENSP00000342118:S671Y	S	-	2	0	HHIPL2	220762729	0.591000	0.26824	0.299000	0.25016	0.026000	0.11368	2.984000	0.49353	2.413000	0.81919	0.655000	0.94253	TCT		0.532	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		88	165	1	0	3.49128e-24	1	4.89562e-24	88	165					T	222696106	G	T	222696106	3	4	48	1	0	0	0	0	1	0	0	0	7103	942	33	2	166	2	HHIPL2	1	222696106	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	816398	222696106	26554515	384	4852										
DISP1	84976	broad.mit.edu	37	chr1	223177256	223177256	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaactgagaaaccaaacattCttttaccagactgatgaaca	5	9	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:223177256C>A	ENST00000284476.6	+	8	2681	c.2517C>A	c.(2515-2517)ttC>ttA	p.F839L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	839					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)		ACCAAACATTCTTTTACCAGA	0.453																																						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.(2515-2517)ttC>ttA		dispatched homolog 1 (Drosophila)							64	69	68					1																	223177256		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.chr1:223177256C>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.2517C>A	1.37:g.223177256C>A	ENSP00000284476:p.Phe839Leu		Somatic					p.F839L	NM_032890.3	NP_116279.2	WXS	Illumina GAIIx	Phase_I	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2681	+			839					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.2517C>A	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856429	0.51376	.	.	ENSG00000154309	ENST00000284476	D	0.94046	-3.34	5.32	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.95765	0.8622	M	0.78344	2.41	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.95056	0.8191	10	0.52906	T	0.07	-38.3601	8.8201	0.35020	0.0:0.7213:0.0:0.2787	.	839	Q96F81	DISP1_HUMAN	L	839	ENSP00000284476:F839L	ENSP00000284476:F839L	F	+	3	2	DISP1	221243879	0.998000	0.40836	0.983000	0.44433	0.968000	0.65278	0.621000	0.24418	1.382000	0.46385	0.655000	0.94253	TTC		0.453	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		15	45	1	0	6.31663e-08	1	7.35827e-08	15	45					A	223177256	C	A	223177256	3	1	48	1	0	0	0	0	1	0	0	0	4541	912	32	2	2543	2	DISP1	1	223177256	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	481150	223177256	26073365	385	4853										
TLR5	7100	broad.mit.edu	37	chr1	223285114	223285114	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggttcgctgtaaggttgatCtttggcaaagtcactagttt	11	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:223285114C>A	ENST00000540964.1	-	4	1721	c.1260G>T	c.(1258-1260)aaG>aaT	p.K420N	TLR5_ENST00000342210.6_Missense_Mutation_p.K420N			O60602	TLR5_HUMAN	toll-like receptor 5	420			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)		TAAGGTTGATCTTTGGCAAAG	0.408																																						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.(1258-1260)aaG>aaT		toll-like receptor 5							95	95	95					1																	223285114		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.chr1:223285114C>A		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.1260G>T	1.37:g.223285114C>A	ENSP00000440643:p.Lys420Asn		Somatic				TLR5_ENST00000342210.6_Missense_Mutation_p.K420N	p.K420N			WXS	Illumina GAIIx	Phase_I	O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1721	-			420		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).			B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.1260G>T	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.244321	0.00271	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.23754	1.89;1.89;1.89	5.59	0.422	0.16457	.	1.040710	0.07489	N	0.905354	T	0.04998	0.0134	N	0.00246	-1.78	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36648	-0.9739	10	0.02654	T	1	.	5.8405	0.18630	0.1294:0.1343:0.6326:0.1038	.	420	O60602	TLR5_HUMAN	N	420	ENSP00000440643:K420N;ENSP00000355846:K420N;ENSP00000340089:K420N	ENSP00000340089:K420N	K	-	3	2	TLR5	221351737	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.223000	0.17719	-0.170000	0.10816	-0.181000	0.13052	AAG		0.408	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		29	62	1	0	1.2476e-16	1	1.66396e-16	29	62					A	223285114	C	A	223285114	3	1	48	1	0	0	0	0	1	0	0	0	15969	912	32	2	1320	2	TLR5	1	223285114	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	107858	223285114	25965507	386	4854										
SUSD4	55061	broad.mit.edu	37	chr1	223402693	223402693	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaggccgcgggtggcagacGaaatctccgtgactcaccat	12	13	2	2	rs572108456		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:223402693G>T	ENST00000343846.3	-	5	1395	c.762C>A	c.(760-762)ttC>ttA	p.F254L	SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000494793.2_Missense_Mutation_p.F254L|SUSD4_ENST00000484758.2_Missense_Mutation_p.F185L|SUSD4_ENST00000366878.4_Missense_Mutation_p.F254L|SUSD4_ENST00000454695.2_Missense_Mutation_p.F94L			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	254	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		GGTGGCAGACGAAATCTCCGT	0.527																																						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.(760-762)ttC>ttA		sushi domain containing 4							62	68	66					1																	223402693		2120	4248	6368	SO:0001583	missense	55061					integral to membrane		g.chr1:223402693G>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.762C>A	1.37:g.223402693G>T	ENSP00000344219:p.Phe254Leu		Somatic				SUSD4_ENST00000366878.4_Missense_Mutation_p.F254L|SUSD4_ENST00000454695.2_Missense_Mutation_p.F94L|SUSD4_ENST00000478605.1_Intron	p.F254L			WXS	Illumina GAIIx	Phase_I	Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	5	1395	-			254			Sushi 4.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.762C>A	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204852	0.79127	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695	T;T;T	0.61274	0.12;0.12;0.12	5.83	4.74	0.60224	Complement control module (2);Sushi/SCR/CCP (3);	0.285875	0.25581	N	0.029689	T	0.51805	0.1696	L	0.46157	1.445	0.80722	D	1	P	0.37370	0.592	B	0.39217	0.294	T	0.44003	-0.9356	10	0.18276	T	0.48	-22.4262	15.8135	0.78581	0.0753:0.0:0.9247:0.0	.	254	Q5VX71	SUSD4_HUMAN	L	254;254;185;94	ENSP00000344219:F254L;ENSP00000355843:F254L;ENSP00000399288:F94L	ENSP00000344219:F254L	F	-	3	2	SUSD4	221469316	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	1.712000	0.37940	2.767000	0.95098	0.655000	0.94253	TTC		0.527	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		20	24	1	0	2.94398e-08	1	3.45884e-08	20	24					T	223402693	G	T	223402693	3	4	48	1	0	0	0	0	1	0	0	0	15425	1049	37	2	726	2	SUSD4	1	223402693	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	117579	223402693	25847928	387	4855										
DEGS1	8560	broad.mit.edu	37	chr1	224377638	224377638	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtagatattcctaccgatTttgagggctggttcttctgt	10	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:224377638T>G	ENST00000323699.4	+	2	608	c.442T>G	c.(442-444)Ttt>Gtt	p.F148V	DEGS1_ENST00000465848.1_3'UTR|DEGS1_ENST00000391877.3_Missense_Mutation_p.F148V	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	148					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		TCCTACCGATTTTGAGGGCTG	0.428																																						ENST00000323699.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(4)	10						c.(442-444)Ttt>Gtt		delta(4)-desaturase, sphingolipid 1							205	197	200					1																	224377638		2203	4300	6503	SO:0001583	missense	8560				sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity	g.chr1:224377638T>G	AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"Fatty acid desaturases"	13709	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 1", "dihydroceramide desaturase 1"	615843	"degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.442T>G	1.37:g.224377638T>G	ENSP00000316476:p.Phe148Val		Somatic				DEGS1_ENST00000391877.3_Missense_Mutation_p.F148V|DEGS1_ENST00000465848.1_3'UTR	p.F148V	NM_003676.3	NP_003667.1	WXS	Illumina GAIIx	Phase_I	O15121	DEGS1_HUMAN		GBM - Glioblastoma multiforme(131;0.00643)	2	608	+	Breast(184;0.193)		148						Missense_Mutation	SNP	ENST00000323699.4	37	c.442T>G	CCDS1540.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.896182	0.52121	.	.	ENSG00000143753	ENST00000415210;ENST00000323699;ENST00000391877	T;T;T	0.17691	2.26;2.26;2.26	6.02	6.02	0.97574	Fatty acid desaturase, type 1 (1);	0.043610	0.85682	D	0.000000	T	0.25717	0.0626	M	0.71296	2.17	0.80722	D	1	B;P	0.38617	0.018;0.64	B;B	0.40602	0.034;0.334	T	0.01884	-1.1254	10	0.27785	T	0.31	.	16.5427	0.84406	0.0:0.0:0.0:1.0	.	148;127	O15121;E7EMA0	DEGS1_HUMAN;.	V	127;148;148	ENSP00000400545:F127V;ENSP00000316476:F148V;ENSP00000375749:F148V	ENSP00000316476:F148V	F	+	1	0	DEGS1	222444261	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	5.111000	0.64628	2.309000	0.77851	0.448000	0.29417	TTT		0.428	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2			16	114	0	0	0	1	0	16	114					G	224377638	T	G	224377638	3	3	48	1	0	0	0	0	1	0	0	0	4424	1841	64	4	448	4	DEGS1	1	224377638	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	974945	224377638	24872983	388	4856										
NVL	4931	broad.mit.edu	37	chr1	224482015	224482015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acctaggcatatttctcggtCgaaccttcccgcacgtctca	7	15	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:224482015C>T	ENST00000281701.6	-	12	1538	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	NVL_ENST00000361463.3_Missense_Mutation_p.D321N|NVL_ENST00000482491.1_Missense_Mutation_p.D151N|NVL_ENST00000469075.1_Missense_Mutation_p.D336N|NVL_ENST00000340871.4_Missense_Mutation_p.D238N|NVL_ENST00000391875.2_Missense_Mutation_p.D321N	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	427						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ATTTCTCGGTCGAACCTTCCC	0.453																																						ENST00000281701.6																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42						c.(1279-1281)Gac>Aac		nuclear VCP-like							100	96	97					1																	224482015		2203	4300	6503	SO:0001583	missense	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224482015C>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.1279G>A	1.37:g.224482015C>T	ENSP00000281701:p.Asp427Asn		Somatic				NVL_ENST00000361463.3_Missense_Mutation_p.D321N|NVL_ENST00000469075.1_Missense_Mutation_p.D336N|NVL_ENST00000482491.1_Missense_Mutation_p.D151N|NVL_ENST00000391875.2_Missense_Mutation_p.D321N|NVL_ENST00000340871.4_Missense_Mutation_p.D238N	p.D427N	NM_002533.3	NP_002524.2	WXS	Illumina GAIIx	Phase_I	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	12	1538	-			427					B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	c.1279G>A	CCDS1541.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.856157|5.856157	0.97030|0.97030	.|.	.|.	ENSG00000143748|ENSG00000143748	ENST00000281701;ENST00000391875;ENST00000469075;ENST00000482491;ENST00000340871;ENST00000361463|ENST00000469968	T;T;T;D;T;T|.	0.96011|.	-1.48;-1.48;-1.48;-3.88;-1.48;-1.48|.	5.65|5.65	5.65|5.65	0.86999|0.86999	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);|.	0.046283|.	0.85682|.	D|.	0.000000|.	T|T	0.82226|0.82226	0.4991|0.4991	M|M	0.81682|0.81682	2.555|2.555	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;0.998;0.998|.	T|T	0.81745|0.81745	-0.0792|-0.0792	10|5	0.87932|.	D|.	0|.	-17.6266|-17.6266	20.0752|20.0752	0.97739|0.97739	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	238;336;427|.	B4DMC4;B4DP98;O15381|.	.;.;NVL_HUMAN|.	N|Q	427;321;336;151;238;321|309	ENSP00000281701:D427N;ENSP00000375747:D321N;ENSP00000417826:D336N;ENSP00000417213:D151N;ENSP00000341362:D238N;ENSP00000354779:D321N|.	ENSP00000281701:D427N|.	D|R	-|-	1|2	0|0	NVL|NVL	222548638|222548638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	7.600000|7.600000	0.82769|0.82769	2.826000|2.826000	0.97356|0.97356	0.491000|0.491000	0.48974|0.48974	GAC|CGA		0.453	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		20	47	0	0	0	1	0	20	47					T	224482015	C	T	224482015	3	4	48	1	0	0	0	0	1	0	0	0	10789	884	31	1	1339	1	NVL	1	224482015	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	104377	224482015	24768606	389	4857										
ITPKB	3707	broad.mit.edu	37	chr1	226924334	226924334	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtaggagagccccttttgtCaatttccatagctgtgggtg	13	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:226924334C>A	ENST00000272117.3	-	1	825	c.826G>T	c.(826-828)Gac>Tac	p.D276Y	ITPKB_ENST00000366784.1_Missense_Mutation_p.D276Y|ITPKB_ENST00000429204.1_Missense_Mutation_p.D276Y			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	276					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)				CCCCTTTTGTCAATTTCCATA	0.587																																					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.(826-828)Gac>Tac		inositol-trisphosphate 3-kinase B							42	47	45					1																	226924334		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226924334C>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.826G>T	1.37:g.226924334C>A	ENSP00000272117:p.Asp276Tyr		Somatic				ITPKB_ENST00000272117.3_Missense_Mutation_p.D276Y|ITPKB_ENST00000366784.1_Missense_Mutation_p.D276Y	p.D276Y	NM_002221.3	NP_002212.3	WXS	Illumina GAIIx	Phase_I	P27987	IP3KB_HUMAN			2	1153	-		Prostate(94;0.0773)	276					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.826G>T	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425483	0.62733	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.25749	1.81;1.81;1.78	4.3	2.31	0.28768	.	0.700841	0.13033	N	0.419112	T	0.15565	0.0375	N	0.24115	0.695	0.09310	N	1	P	0.40476	0.718	B	0.39465	0.3	T	0.12142	-1.0559	10	0.62326	D	0.03	.	4.0934	0.09980	0.0:0.5622:0.2133:0.2245	.	276	P27987	IP3KB_HUMAN	Y	276	ENSP00000272117:D276Y;ENSP00000411152:D276Y;ENSP00000355748:D276Y	ENSP00000272117:D276Y	D	-	1	0	ITPKB	224990957	0.000000	0.05858	0.790000	0.31976	0.667000	0.39255	0.083000	0.14871	1.027000	0.39758	0.561000	0.74099	GAC		0.587	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		27	47	1	0	6.32553e-13	1	8.04352e-13	27	47					A	226924334	C	A	226924334	3	1	48	1	0	0	0	0	1	0	0	0	7927	826	29	2	2042	2	ITPKB	1	226924334	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2442319	226924334	22326287	390	4858										
WNT9A	7483	broad.mit.edu	37	chr1	228111950	228111950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtacttaaggttgtctccGcagcccccccactgccaggc	9	17	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:228111950G>A	ENST00000272164.5	-	3	514	c.504C>T	c.(502-504)tgC>tgT	p.C168C		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	168					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GGTTGTCTCCGCAGCCCCCCC	0.627																																						ENST00000272164.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(502-504)tgC>tgT		wingless-type MMTV integration site family, member 9A							108	105	106					1																	228111950		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:228111950G>A	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.504C>T	1.37:g.228111950G>A			Somatic				WNT9A_ENST00000497852.1_Intron	p.C168C	NM_003395.2	NP_003386.1	WXS	Illumina GAIIx	Phase_I	O14904	WNT9A_HUMAN			3	514	-		Prostate(94;0.0405)	168					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Silent	SNP	ENST00000272164.5	37	c.504C>T	CCDS31045.1																																																																																				0.627	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		73	107	0	0	0	1	0	73	107					A	228111950	G	A	228111950	2	1	48	1	0	0	0	0	0	0	0	1	17413	1079	38	1		1	WNT9A	1	228111950	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1187616	228111950	21138671	391	4859										
URB2	9816	broad.mit.edu	37	chr1	229771072	229771072	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggacatcaggagtcagattGaggccatgttccgaggaggg	17	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:229771072G>T	ENST00000258243.2	+	4	848	c.712G>T	c.(712-714)Gag>Tag	p.E238*		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	238						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						GAGTCAGATTGAGGCCATGTT	0.602																																						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.(712-714)Gag>Tag		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							63	65	65					1																	229771072		2203	4300	6503	SO:0001587	stop_gained	9816					nucleolus		g.chr1:229771072G>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.712G>T	1.37:g.229771072G>T	ENSP00000258243:p.Glu238*		Somatic					p.E238*	NM_014777.2	NP_055592.2	WXS	Illumina GAIIx	Phase_I	Q14146	URB2_HUMAN			4	848	+			238					Q5VYC9	Nonsense_Mutation	SNP	ENST00000258243.2	37	c.712G>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317773	0.81469	.	.	ENSG00000135763	ENST00000258243	.	.	.	5.39	5.39	0.77823	.	0.156483	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.8339	19.5286	0.95215	0.0:0.0:1.0:0.0	.	.	.	.	X	238	.	.	E	+	1	0	URB2	227837695	1.000000	0.71417	0.897000	0.35233	0.010000	0.07245	7.532000	0.81985	2.700000	0.92200	0.650000	0.86243	GAG		0.602	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		4	84	1	0	0.00909568	1	0.00935351	4	84					T	229771072	G	T	229771072	4	4	48	1	0	0	0	0	0	1	0	0	17040	1291	45	2	722	2	URB2	1	229771072	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1659122	229771072	19479549	392	4860										
URB2	9816	broad.mit.edu	37	chr1	229773496	229773496	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagcttcaagcaaacaattaGaaaatcagaacccccagggc	7	12	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:229773496G>A	ENST00000258243.2	+	4	3272	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1046						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						CAAACAATTAGAAAATCAGAA	0.483																																						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.(3136-3138)Gaa>Aaa		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							49	52	51					1																	229773496		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229773496G>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.3136G>A	1.37:g.229773496G>A	ENSP00000258243:p.Glu1046Lys		Somatic					p.E1046K	NM_014777.2	NP_055592.2	WXS	Illumina GAIIx	Phase_I	Q14146	URB2_HUMAN			4	3272	+			1046					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.3136G>A	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	8.810	0.935019	0.18206	.	.	ENSG00000135763	ENST00000258243	T	0.29397	1.57	5.38	0.675	0.17952	.	0.948671	0.08917	N	0.874920	T	0.16214	0.0390	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32188	-0.9916	9	.	.	.	-3.716	8.8274	0.35063	0.5962:0.0:0.4038:0.0	.	1046	Q14146	URB2_HUMAN	K	1046	ENSP00000258243:E1046K	.	E	+	1	0	URB2	227840119	0.001000	0.12720	0.009000	0.14445	0.037000	0.13140	0.987000	0.29603	0.181000	0.19994	0.585000	0.79938	GAA		0.483	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		22	38	0	0	0	1	0	22	38					A	229773496	G	A	229773496	3	1	48	1	0	0	0	0	1	0	0	0	17040	943	33	3	3146	3	URB2	1	229773496	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2424	229773496	19477125	393	4861										
CAPN9	10753	broad.mit.edu	37	chr1	230891101	230891101	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggaaatcgtgaaaaacccaGaattcattcttggaggggcc	11	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:230891101G>T	ENST00000271971.2	+	2	345	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	CAPN9_ENST00000354537.1_Nonsense_Mutation_p.E78*|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Intron	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	78	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			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)				GAAAAACCCAGAATTCATTCT	0.537																																						ENST00000354537.1																			0				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.(232-234)Gaa>Taa		calpain 9							78	76	77					1																	230891101		2203	4300	6503	SO:0001587	stop_gained	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230891101G>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.232G>T	1.37:g.230891101G>T	ENSP00000271971:p.Glu78*		Somatic				CAPN9_ENST00000366666.2_Intron|CAPN9_ENST00000271971.2_Nonsense_Mutation_p.E78*|RP11-99J16__A.2_ENST00000412344.1_RNA	p.E78*	NM_016452.1	NP_057536.1	WXS	Illumina GAIIx	Phase_I	O14815	CAN9_HUMAN			2	314	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	78			Calpain catalytic.		B1APS1|B1AQI0|Q9NS74	Nonsense_Mutation	SNP	ENST00000271971.2	37	c.232G>T	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	G	37	6.316069	0.97467	.	.	ENSG00000135773	ENST00000271971;ENST00000354537	.	.	.	5.07	5.07	0.68467	.	0.257566	0.44285	D	0.000462	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	8.5385	0.33377	0.0894:0.1575:0.7531:0.0	.	.	.	.	X	78	.	ENSP00000271971:E78X	E	+	1	0	CAPN9	228957724	0.971000	0.33674	1.000000	0.80357	0.975000	0.68041	1.050000	0.30404	2.352000	0.79861	0.655000	0.94253	GAA		0.537	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		15	43	1	0	1.5739e-10	1	1.93697e-10	15	43					T	230891101	G	T	230891101	4	4	48	1	0	0	0	0	0	1	0	0	2634	943	33	2	238	2	CAPN9	1	230891101	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1117605	230891101	18359520	394	4862										
CAPN9	10753	broad.mit.edu	37	chr1	230907779	230907779	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtaagcttccgaggccagaGaatcgagctcatccgaatcc	11	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:230907779G>A	ENST00000271971.2	+	7	922	c.809G>A	c.(808-810)aGa>aAa	p.R270K	CAPN9_ENST00000354537.1_Missense_Mutation_p.R270K|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.R207K	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	270	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			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)				CGAGGCCAGAGAATCGAGCTC	0.537																																						ENST00000354537.1																			0				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.(808-810)aGa>aAa		calpain 9							87	84	85					1																	230907779		2203	4300	6503	SO:0001583	missense	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230907779G>A	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.809G>A	1.37:g.230907779G>A	ENSP00000271971:p.Arg270Lys		Somatic				CAPN9_ENST00000366666.2_Missense_Mutation_p.R207K|CAPN9_ENST00000271971.2_Missense_Mutation_p.R270K|RP11-99J16__A.2_ENST00000412344.1_RNA	p.R270K	NM_016452.1	NP_057536.1	WXS	Illumina GAIIx	Phase_I	O14815	CAN9_HUMAN			7	891	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	270			Calpain catalytic.		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	c.809G>A	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.512714	0.00975	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	T;T;T	0.14391	2.51;2.51;2.51	5.26	0.22	0.15279	Peptidase C2, calpain, catalytic domain (3);	0.342667	0.36628	N	0.002500	T	0.03263	0.0095	N	0.01431	-0.87	0.28375	N	0.919816	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.45220	-0.9276	10	0.02654	T	1	.	8.2194	0.31532	0.6616:0.0:0.3384:0.0	.	207;270;270	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	K	270;270;207	ENSP00000271971:R270K;ENSP00000346538:R270K;ENSP00000355626:R207K	ENSP00000271971:R270K	R	+	2	0	CAPN9	228974402	0.861000	0.29849	0.012000	0.15200	0.003000	0.03518	1.066000	0.30604	0.039000	0.15632	-0.290000	0.09829	AGA		0.537	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		10	68	0	0	0	1	0	10	68					A	230907779	G	A	230907779	3	1	48	1	0	0	0	0	1	0	0	0	2634	942	33	3	835	3	CAPN9	1	230907779	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	16678	230907779	18342842	395	4863										
CAPN9	10753	broad.mit.edu	37	chr1	230928177	230928177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acccacatggcacagaccagCggcaatgggaagctggagtt	13	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:230928177C>T	ENST00000271971.2	+	16	1841	c.1728C>T	c.(1726-1728)agC>agT	p.S576S	CAPN9_ENST00000354537.1_Silent_p.S550S|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Silent_p.S513S|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000428480.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	576	Domain IV.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			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)				CACAGACCAGCGGCAATGGGA	0.562																																						ENST00000354537.1																			0				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.(1648-1650)agC>agT		calpain 9							125	114	118					1																	230928177		2203	4300	6503	SO:0001819	synonymous_variant	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230928177C>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.1728C>T	1.37:g.230928177C>T			Somatic				CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000366666.2_Silent_p.S513S|CAPN9_ENST00000271971.2_Silent_p.S576S|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA	p.S550S	NM_016452.1	NP_057536.1	WXS	Illumina GAIIx	Phase_I	O14815	CAN9_HUMAN			15	1732	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	576			Domain IV.|EF-hand 1.		B1APS1|B1AQI0|Q9NS74	Silent	SNP	ENST00000271971.2	37	c.1650C>T	CCDS1586.1																																																																																				0.562	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		35	96	0	0	0	1	0	35	96					T	230928177	C	T	230928177	2	4	48	1	0	0	0	0	0	0	0	1	2634	767	27	1		1	CAPN9	1	230928177	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	20398	230928177	18322444	396	4864										
TTC13	79573	broad.mit.edu	37	chr1	231061365	231061365	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcctgtacttcaggcttatAactctcaaaattctgatgta	5	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:231061365A>C	ENST00000366661.4	-	13	1493	c.1486T>G	c.(1486-1488)Tat>Gat	p.Y496D	TTC13_ENST00000366662.4_Missense_Mutation_p.Y443D|TTC13_ENST00000414259.1_Missense_Mutation_p.Y443D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	496										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)		TCAGGCTTATAACTCTCAAAA	0.403																																						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.(1486-1488)Tat>Gat		tetratricopeptide repeat domain 13							149	138	141					1																	231061365		2203	4300	6503	SO:0001583	missense	79573						binding	g.chr1:231061365A>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.1486T>G	1.37:g.231061365A>C	ENSP00000355621:p.Tyr496Asp		Somatic				TTC13_ENST00000414259.1_Missense_Mutation_p.Y443D|TTC13_ENST00000366662.4_Missense_Mutation_p.Y443D	p.Y496D	NM_024525.4	NP_078801.3	WXS	Illumina GAIIx	Phase_I	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	13	1493	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	496					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.1486T>G	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743478	0.89663	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.35421	1.31;1.31;1.31	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.56077	0.1961	L	0.54323	1.7	0.80722	D	1	P;D;D;D	0.76494	0.944;0.999;0.993;0.98	P;D;P;P	0.80764	0.587;0.994;0.878;0.714	T	0.56306	-0.8001	10	0.54805	T	0.06	-8.3465	16.0203	0.80478	1.0:0.0:0.0:0.0	.	421;443;443;496	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	D	496;443;443	ENSP00000355621:Y496D;ENSP00000355622:Y443D;ENSP00000416631:Y443D	ENSP00000355621:Y496D	Y	-	1	0	TTC13	229127988	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.339000	0.96797	2.186000	0.69663	0.523000	0.50628	TAT		0.403	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		31	54	0	0	0	1	0	31	54					C	231061365	A	C	231061365	3	2	48	1	0	0	0	0	1	0	0	0	16695	362	13	4	1140	4	TTC13	1	231061365	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	133188	231061365	18189256	397	4865										
SIPA1L2	57568	broad.mit.edu	37	chr1	232619691	232619691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgctttgcaataaaggatccCgatcttgtgctgaaagctca	9	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:232619691C>T	ENST00000366630.1	-	5	2186	c.1828G>A	c.(1828-1830)Ggg>Agg	p.G610R	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G610R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	610	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)				TAAAGGATCCCGATCTTGTGC	0.428																																						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.(1828-1830)Ggg>Agg		signal-induced proliferation-associated 1 like 2							82	79	80					1																	232619691		1902	4135	6037	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232619691C>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.1828G>A	1.37:g.232619691C>T	ENSP00000355589:p.Gly610Arg		Somatic				SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G610R	p.G610R			WXS	Illumina GAIIx	Phase_I	Q9P2F8	SI1L2_HUMAN			5	2186	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	610			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1828G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253781	0.95336	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.96554	-4.05;-4.05	5.65	5.65	0.86999	Rap/ran-GAP (1);	0.000000	0.85682	D	0.000000	D	0.99096	0.9689	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98829	1.0750	10	0.87932	D	0	-37.0387	19.9142	0.97043	0.0:1.0:0.0:0.0	.	610	Q9P2F8	SI1L2_HUMAN	R	610	ENSP00000355589:G610R;ENSP00000262861:G610R	ENSP00000262861:G610R	G	-	1	0	SIPA1L2	230686314	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.320000	0.79064	2.941000	0.99782	0.655000	0.94253	GGG		0.428	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		6	60	0	0	0	1	0	6	60					T	232619691	C	T	232619691	3	4	48	1	0	0	0	0	1	0	0	0	14345	652	23	1	3412	1	SIPA1L2	1	232619691	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1558326	232619691	16630930	398	4866										
SIPA1L2	57568	broad.mit.edu	37	chr1	232649870	232649870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaagtaaggacaactaaggaCgaggtcgttacttttcccat	9	8	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:232649870C>T	ENST00000366630.1	-	2	1574	c.1216G>A	c.(1216-1218)Gtc>Atc	p.V406I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V406I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	406					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)				CAACTAAGGACGAGGTCGTTA	0.527																																						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.(1216-1218)Gtc>Atc		signal-induced proliferation-associated 1 like 2							175	167	170					1																	232649870		1960	4151	6111	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649870C>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.1216G>A	1.37:g.232649870C>T	ENSP00000355589:p.Val406Ile		Somatic				SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V406I	p.V406I			WXS	Illumina GAIIx	Phase_I	Q9P2F8	SI1L2_HUMAN			2	1574	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	406					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1216G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126551	0.56721	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.81659	-1.52;-1.52	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.87034	0.6077	M	0.77616	2.38	0.54753	D	0.999986	D	0.60160	0.987	P	0.52514	0.701	D	0.88407	0.3019	10	0.72032	D	0.01	-36.8841	19.3561	0.94414	0.0:1.0:0.0:0.0	.	406	Q9P2F8	SI1L2_HUMAN	I	406	ENSP00000355589:V406I;ENSP00000262861:V406I	ENSP00000262861:V406I	V	-	1	0	SIPA1L2	230716493	1.000000	0.71417	0.965000	0.40720	0.668000	0.39293	4.736000	0.62059	2.810000	0.96702	0.650000	0.86243	GTC		0.527	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		58	130	0	0	0	1	0	58	130					T	232649870	C	T	232649870	3	4	48	1	0	0	0	0	1	0	0	0	14345	536	19	1	4036	1	SIPA1L2	1	232649870	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	30179	232649870	16600751	399	4867										
KIAA1804	84451	broad.mit.edu	37	chr1	233498022	233498022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaagctcaaagatggacatcGaatcagtttaccttcaggta	8	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:233498022G>A	ENST00000366624.3	+	5	1796	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	MLK4_ENST00000366623.3_Missense_Mutation_p.R512Q	NM_032435.2	NP_115811.2																					GATGGACATCGAATCAGTTTA	0.363																																						ENST00000366624.3																			0											c.(1534-1536)cGa>cAa									86	85	86					1																	233498022		2203	4300	6503	SO:0001583	missense	0							g.chr1:233498022G>A																												ENST00000366624.3:c.1535G>A	1.37:g.233498022G>A	ENSP00000355583:p.Arg512Gln		Somatic				MLK4_ENST00000366623.3_Missense_Mutation_p.R512Q	p.R512Q	NM_032435.2	NP_115811.2	WXS	Illumina GAIIx	Phase_I					5	1796	+									Missense_Mutation	SNP	ENST00000366624.3	37	c.1535G>A	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431926	0.43122	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.11930	2.73;2.73	4.82	3.91	0.45181	.	0.000000	0.64402	D	0.000002	T	0.09158	0.0226	L	0.37850	1.14	0.80722	D	1	P;B	0.38922	0.651;0.407	B;B	0.32022	0.139;0.041	T	0.21415	-1.0246	10	0.34782	T	0.22	.	8.2283	0.31582	0.0792:0.0:0.766:0.1548	.	512;512	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	Q	512	ENSP00000355582:R512Q;ENSP00000355583:R512Q	ENSP00000355582:R512Q	R	+	2	0	RP5-862P8.2	231564645	1.000000	0.71417	0.323000	0.25347	0.747000	0.42532	6.396000	0.73234	1.249000	0.43950	0.655000	0.94253	CGA		0.363	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			7	60	0	0	0	1	0	7	60					A	233498022	G	A	233498022	3	1	48	1	0	0	0	0	1	0	0	0	8268	1058	37	1	1553	1	KIAA1804	1	233498022	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	848152	233498022	15752599	400	4868										
LYST	1130	broad.mit.edu	37	chr1	235878565	235878565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggaagtgaagcacagtgccGctattggaatagtgggagcc	15	7	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:235878565G>A	ENST00000389794.3	-	42	9894	c.9720C>T	c.(9718-9720)agC>agT	p.S3240S	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.S3240S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3240	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				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)			GCACAGTGCCGCTATTGGAAT	0.463																																						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.(9718-9720)agC>agT		lysosomal trafficking regulator							109	108	108					1																	235878565		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.chr1:235878565G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.9720C>T	1.37:g.235878565G>A			Somatic				LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.S3240S	p.S3240S			WXS	Illumina GAIIx	Phase_I	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		42	9894	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3240			BEACH.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.9720C>T	CCDS31062.1																																																																																				0.463	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			24	37	0	0	0	1	0	24	37					A	235878565	G	A	235878565	2	1	48	1	0	0	0	0	0	0	0	1	9137	1078	38	1		1	LYST	1	235878565	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2380543	235878565	13372056	401	4869										
LYST	1130	broad.mit.edu	37	chr1	235972297	235972297	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atattcaatatatgctgctgAaaatttttcagtgctggcaa	7	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:235972297A>G	ENST00000389794.3	-	5	1995	c.1821T>C	c.(1819-1821)ttT>ttC	p.F607F	LYST_ENST00000389793.2_Silent_p.F607F|LYST_ENST00000536965.1_Silent_p.F607F			Q99698	LYST_HUMAN	lysosomal trafficking regulator	607					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)			TATGCTGCTGAAAATTTTTCA	0.333																																						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.(1819-1821)ttT>ttC		lysosomal trafficking regulator							88	93	92					1																	235972297		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.chr1:235972297A>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.1821T>C	1.37:g.235972297A>G			Somatic				LYST_ENST00000536965.1_Silent_p.F607F|LYST_ENST00000389793.2_Silent_p.F607F	p.F607F			WXS	Illumina GAIIx	Phase_I	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	1995	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	607					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.1821T>C	CCDS31062.1																																																																																				0.333	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			37	71	0	0	0	1	0	37	71					G	235972297	A	G	235972297	2	3	48	1	0	0	0	0	0	0	0	1	9137	243	9	4		4	LYST	1	235972297	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	93732	235972297	13278324	402	4870										
HEATR1	55127	broad.mit.edu	37	chr1	236734928	236734928	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgttgagcagacaactaaGaattaattgtttggtgtatt	10	3	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:236734928G>T	ENST00000366582.3	-	27	3880	c.3766C>A	c.(3766-3768)Ctt>Att	p.L1256I	HEATR1_ENST00000366581.2_Missense_Mutation_p.L1175I	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1256					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)			AGACAACTAAGAATTAATTGT	0.373																																						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.(3766-3768)Ctt>Att		HEAT repeat containing 1							154	152	153					1																	236734928		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236734928G>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.3766C>A	1.37:g.236734928G>T	ENSP00000355541:p.Leu1256Ile		Somatic				HEATR1_ENST00000366581.2_Missense_Mutation_p.L1175I	p.L1256I	NM_018072.5	NP_060542.4	WXS	Illumina GAIIx	Phase_I	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		27	3880	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1256					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.3766C>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346850	0.82022	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.69435	-0.4;-0.32	5.36	4.45	0.53987	Armadillo-like helical (1);Armadillo-type fold (1);	0.133891	0.51477	D	0.000089	T	0.81645	0.4866	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	0.964;1.0	D;D	0.91635	0.927;0.999	D	0.83927	0.0304	10	0.66056	D	0.02	.	13.5815	0.61905	0.0745:0.0:0.9255:0.0	.	1175;1256	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	I	1256;1175	ENSP00000355541:L1256I;ENSP00000355540:L1175I	ENSP00000355540:L1175I	L	-	1	0	HEATR1	234801551	1.000000	0.71417	0.986000	0.45419	0.967000	0.64934	6.151000	0.71806	1.255000	0.44051	0.585000	0.79938	CTT		0.373	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		8	22	1	0	0.000157383	1	0.000169016	8	22					T	236734928	G	T	236734928	3	4	48	1	0	0	0	0	1	0	0	0	7036	942	33	2	2744	2	HEATR1	1	236734928	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	762631	236734928	12515693	403	4871										
HEATR1	55127	broad.mit.edu	37	chr1	236748338	236748338	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccttaccactgcagtaatgAcactttcaagcttctttatt	4	11	2	1	rs141347838	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:236748338A>C	ENST00000366582.3	-	17	2342	c.2228T>G	c.(2227-2229)gTc>gGc	p.V743G	HEATR1_ENST00000366581.2_Missense_Mutation_p.V743G	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	743					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)			TGCAGTAATGACACTTTCAAG	0.388																																						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.(2227-2229)gTc>gGc		HEAT repeat containing 1							85	87	87					1																	236748338		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236748338A>C	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.2228T>G	1.37:g.236748338A>C	ENSP00000355541:p.Val743Gly		Somatic				HEATR1_ENST00000366581.2_Missense_Mutation_p.V743G	p.V743G	NM_018072.5	NP_060542.4	WXS	Illumina GAIIx	Phase_I	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		17	2342	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	743					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.2228T>G	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.866286	0.32977	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.05925	3.4;3.37	5.93	4.82	0.62117	Armadillo-type fold (1);	0.593009	0.17759	N	0.162962	T	0.08447	0.0210	L	0.51422	1.61	0.28055	N	0.933198	B	0.29341	0.242	B	0.30646	0.118	T	0.11494	-1.0585	10	0.72032	D	0.01	.	9.8079	0.40803	0.9231:0.0:0.0769:0.0	.	743	Q9H583	HEAT1_HUMAN	G	743	ENSP00000355541:V743G;ENSP00000355540:V743G	ENSP00000355540:V743G	V	-	2	0	HEATR1	234814961	0.201000	0.23410	0.409000	0.26459	0.110000	0.19582	2.230000	0.42999	1.082000	0.41137	0.482000	0.46254	GTC		0.388	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		3	27	0	0	0	1	0	3	27					C	236748338	A	C	236748338	3	2	48	1	0	0	0	0	1	0	0	0	7036	275	10	4	4322	4	HEATR1	1	236748338	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	13410	236748338	12502283	404	4872										
RYR2	6262	broad.mit.edu	37	chr1	237604646	237604646	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggatgtaggggtgagaaaaGaagtagatggcatgggaaca	17	2	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237604646G>T	ENST00000366574.2	+	13	1350	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.E329*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E343*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	345					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)			GGTGAGAAAAGAAGTAGATGG	0.388																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(1033-1035)Gaa>Taa		ryanodine receptor 2 (cardiac)							143	138	139					1																	237604646		1852	4106	5958	SO:0001587	stop_gained	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237604646G>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.1033G>T	1.37:g.237604646G>T	ENSP00000355533:p.Glu345*		Somatic				RYR2_ENST00000360064.6_Nonsense_Mutation_p.E343*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E329*	p.E345*	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		13	1350	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	345					Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.1033G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	37	6.031137	0.97221	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.39	4.47	0.54385	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	15.7434	0.77920	0.0:0.0:0.8621:0.1379	.	.	.	.	X	345;343;329	.	ENSP00000353174:E343X	E	+	1	0	RYR2	235671269	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	9.800000	0.99124	1.382000	0.46385	-0.181000	0.13052	GAA		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		20	40	1	0	1.64113e-05	1	1.80518e-05	20	40					T	237604646	G	T	237604646	4	4	48	1	0	0	0	0	0	1	0	0	13784	943	33	2	1083	2	RYR2	1	237604646	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	856308	237604646	11645975	405	4873										
RYR2	6262	broad.mit.edu	37	chr1	237670013	237670013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttttgtaaattttagatcGtgttgcctcctcatctagaa	6	8	2	2	rs369248015		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237670013G>A	ENST00000366574.2	+	23	2934	c.2617G>A	c.(2617-2619)Gtg>Atg	p.V873M	RYR2_ENST00000542537.1_Missense_Mutation_p.V857M|RYR2_ENST00000360064.6_Missense_Mutation_p.V871M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	873	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)			ATTTTAGATCGTGTTGCCTCC	0.368																																						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.(2617-2619)Gtg>Atg		ryanodine receptor 2 (cardiac)		G	MET/VAL	0,3650		0,0,1825	71	70	70		2617	5.6	1	1		70	1,8163		0,1,4081	no	missense	RYR2	NM_001035.2	21	0,1,5906	AA,AG,GG		0.0122,0.0,0.0085	probably-damaging	873/4968	237670013	1,11813	1825	4082	5907	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.chr1:237670013G>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.2617G>A	1.37:g.237670013G>A	ENSP00000355533:p.Val873Met		Somatic				RYR2_ENST00000360064.6_Missense_Mutation_p.V871M|RYR2_ENST00000542537.1_Missense_Mutation_p.V857M	p.V873M	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		23	2934	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	873			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2617G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366228	0.82463	0.0	1.22E-4	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91631	-2.88;-2.88;-2.88	5.59	5.59	0.84812	Ryanodine receptor Ryr (1);	0.000000	0.56097	D	0.000028	D	0.95239	0.8456	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95089	0.8220	10	0.59425	D	0.04	.	19.5901	0.95506	0.0:0.0:1.0:0.0	.	873	Q92736	RYR2_HUMAN	M	873;871;857	ENSP00000355533:V873M;ENSP00000353174:V871M;ENSP00000443798:V857M	ENSP00000353174:V871M	V	+	1	0	RYR2	235736636	1.000000	0.71417	0.992000	0.48379	0.917000	0.54804	6.667000	0.74451	2.626000	0.88956	0.585000	0.79938	GTG		0.368	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	17	0	0	0	1	0	8	17					A	237670013	G	A	237670013	3	1	48	1	0	0	0	0	1	0	0	0	13784	1145	40	1	2707	1	RYR2	1	237670013	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	65367	237670013	11580608	406	4874										
RYR2	6262	broad.mit.edu	37	chr1	237756916	237756916	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acagttactctaggagatgaAaaaggaaaagtgcatgaaag	11	4	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237756916A>C	ENST00000366574.2	+	33	4733	c.4416A>C	c.(4414-4416)gaA>gaC	p.E1472D	RYR2_ENST00000542537.1_Missense_Mutation_p.E1456D|RYR2_ENST00000360064.6_Missense_Mutation_p.E1470D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1472	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)			TAGGAGATGAAAAAGGAAAAG	0.378																																						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.(4414-4416)gaA>gaC		ryanodine receptor 2 (cardiac)							71	65	67					1																	237756916		1864	4103	5967	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.chr1:237756916A>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.4416A>C	1.37:g.237756916A>C	ENSP00000355533:p.Glu1472Asp		Somatic				RYR2_ENST00000360064.6_Missense_Mutation_p.E1470D|RYR2_ENST00000542537.1_Missense_Mutation_p.E1456D	p.E1472D	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		33	4733	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1472			4 X approximate repeats.|B30.2/SPRY 3.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4416A>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.865148	0.32977	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.58060	0.36;0.36;0.36	4.9	3.78	0.43462	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.178273	0.33631	N	0.004710	T	0.38427	0.1040	L	0.35414	1.06	0.80722	D	1	P	0.48162	0.906	B	0.43950	0.437	T	0.12941	-1.0528	10	0.29301	T	0.29	.	4.8179	0.13376	0.6436:0.0:0.0798:0.2765	.	1472	Q92736	RYR2_HUMAN	D	1472;1470;1456	ENSP00000355533:E1472D;ENSP00000353174:E1470D;ENSP00000443798:E1456D	ENSP00000353174:E1470D	E	+	3	2	RYR2	235823539	0.690000	0.27699	1.000000	0.80357	0.998000	0.95712	-0.060000	0.11712	0.886000	0.36113	0.528000	0.53228	GAA		0.378	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		17	35	0	0	0	1	0	17	35					C	237756916	A	C	237756916	3	2	48	1	0	0	0	0	1	0	0	0	13784	11	1	4	4546	4	RYR2	1	237756916	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	86903	237756916	11493705	407	4875										
RYR2	6262	broad.mit.edu	37	chr1	237870481	237870481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcacagccctgaactcagaGcacatgaacacacttctagg	8	13	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237870481G>A	ENST00000366574.2	+	68	10130	c.9813G>A	c.(9811-9813)gaG>gaA	p.E3271E	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.E3255E|RYR2_ENST00000360064.6_Silent_p.E3269E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3271					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)			TGAACTCAGAGCACATGAACA	0.483																																						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.(9811-9813)gaG>gaA		ryanodine receptor 2 (cardiac)							56	55	55					1																	237870481		2012	4176	6188	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.chr1:237870481G>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.9813G>A	1.37:g.237870481G>A			Somatic				RYR2_ENST00000360064.6_Silent_p.E3269E|RYR2_ENST00000542537.1_Silent_p.E3255E	p.E3271E	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		68	10130	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3271					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.9813G>A	CCDS55691.1																																																																																				0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		15	18	0	0	0	1	0	15	18					A	237870481	G	A	237870481	2	1	48	1	0	0	0	0	0	0	0	1	13784	962	34	3		3	RYR2	1	237870481	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	113565	237870481	11380140	408	4876										
RYR2	6262	broad.mit.edu	37	chr1	237895444	237895444	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtcggacagctttaacagaGaaatggtatggttgggaggg	16	4	0	1	rs551386577		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237895444G>T	ENST00000366574.2	+	78	11351	c.11034G>T	c.(11032-11034)gaG>gaT	p.E3678D	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.E3662D|RYR2_ENST00000360064.6_Missense_Mutation_p.E3676D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3678					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)			CTTTAACAGAGAAATGGTATG	0.443													G|||	1	0.000199681	8e-04	0	5008	,	,		15921	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.(11032-11034)gaG>gaT		ryanodine receptor 2 (cardiac)							83	83	83					1																	237895444		1849	4095	5944	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.chr1:237895444G>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.11034G>T	1.37:g.237895444G>T	ENSP00000355533:p.Glu3678Asp		Somatic				RYR2_ENST00000360064.6_Missense_Mutation_p.E3676D|RYR2_ENST00000542537.1_Missense_Mutation_p.E3662D	p.E3678D	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		78	11351	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3678					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11034G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506991	0.64410	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97404	-4.37;-4.34;-4.37	5.62	4.7	0.59300	.	0.000000	0.64402	D	0.000010	D	0.98178	0.9398	M	0.84948	2.725	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.75484	0.986;0.91	D	0.98072	1.0399	10	0.72032	D	0.01	-19.5876	10.5054	0.44830	0.1625:0.0:0.8375:0.0	.	633;3678	B4DGV4;Q92736	.;RYR2_HUMAN	D	3678;3676;3662;633	ENSP00000355533:E3678D;ENSP00000353174:E3676D;ENSP00000443798:E3662D	ENSP00000353174:E3676D	E	+	3	2	RYR2	235962067	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.578000	0.53892	2.661000	0.90470	0.655000	0.94253	GAG		0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	43	1	0	0.000274275	1	0.000292037	8	43					T	237895444	G	T	237895444	3	4	48	1	0	0	0	0	1	0	0	0	13784	933	33	2	11344	2	RYR2	1	237895444	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	24963	237895444	11355177	409	4877										
RYR2	6262	broad.mit.edu	37	chr1	237961430	237961430	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggacttcagtgatgccagaGaaaagaagaagccaaagaaa	11	6	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237961430G>T	ENST00000366574.2	+	97	14367	c.14050G>T	c.(14050-14052)Gaa>Taa	p.E4684*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.E4668*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E4690*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4684					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)			TGATGCCAGAGAAAAGAAGAA	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.(14050-14052)Gaa>Taa		ryanodine receptor 2 (cardiac)							81	89	87					1																	237961430		1897	4121	6018	SO:0001587	stop_gained	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237961430G>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.14050G>T	1.37:g.237961430G>T	ENSP00000355533:p.Glu4684*		Somatic				RYR2_ENST00000360064.6_Nonsense_Mutation_p.E4690*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E4668*	p.E4684*	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		97	14367	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4684					Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.14050G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	55	24.918536	0.99962	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	.	.	.	5.57	5.57	0.84162	.	0.081432	0.47852	U	0.000212	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	12.8353	0.57770	0.0747:0.0:0.9253:0.0	.	.	.	.	X	4684;4690;4668;117	.	ENSP00000353174:E4690X	E	+	1	0	RYR2	236028053	1.000000	0.71417	0.958000	0.39756	0.908000	0.53690	5.021000	0.64072	2.628000	0.89032	0.650000	0.86243	GAA		0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	12	1	0	0.0477658	1	0.0484551	7	12					T	237961430	G	T	237961430	4	4	48	1	0	0	0	0	0	1	0	0	13784	943	33	2	14436	2	RYR2	1	237961430	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	65986	237961430	11289191	410	4878										
RYR2	6262	broad.mit.edu	37	chr1	237972271	237972271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtggcattcaattttttccGaaaattctacaataaaagtg	7	6	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237972271G>A	ENST00000366574.2	+	100	14686	c.14369G>A	c.(14368-14370)cGa>cAa	p.R4790Q	RYR2_ENST00000542537.1_Missense_Mutation_p.R4774Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R4796Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4790					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R4788Q(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)			AATTTTTTCCGAAAATTCTAC	0.353																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.R4788Q(1)	large_intestine(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14368-14370)cGa>cAa		ryanodine receptor 2 (cardiac)							255	250	251					1																	237972271		1845	4091	5936	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.chr1:237972271G>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.14369G>A	1.37:g.237972271G>A	ENSP00000355533:p.Arg4790Gln		Somatic				RYR2_ENST00000360064.6_Missense_Mutation_p.R4796Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R4774Q	p.R4790Q	NM_001035.2	NP_001026.2	WXS	Illumina GAIIx	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		100	14686	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4790					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14369G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378021	0.95945	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.92048	-2.96;-2.96;-2.96	4.88	4.88	0.63580	Ion transport (1);	0.000000	0.47852	U	0.000203	D	0.95010	0.8385	L	0.55743	1.74	0.54753	D	0.999989	D;D	0.71674	0.998;0.998	P;D	0.76575	0.866;0.988	D	0.95562	0.8630	10	0.87932	D	0	.	18.3877	0.90472	0.0:0.0:1.0:0.0	.	223;4790	F5H3C7;Q92736	.;RYR2_HUMAN	Q	4790;4796;4774;223	ENSP00000355533:R4790Q;ENSP00000353174:R4796Q;ENSP00000443798:R4774Q	ENSP00000353174:R4796Q	R	+	2	0	RYR2	236038894	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.781000	0.99029	2.412000	0.81896	0.563000	0.77884	CGA		0.353	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		61	103	0	0	0	1	0	61	103					A	237972271	G	A	237972271	3	1	48	1	0	0	0	0	1	0	0	0	13784	1058	37	1	14767	1	RYR2	1	237972271	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	10841	237972271	11278350	411	4879										
FMN2	56776	broad.mit.edu	37	chr1	240341335	240341335	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggccaccatccaaacctcccGatgaggaacacaggctcgag	10	15	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:240341335G>A	ENST00000319653.9	+	3	2127	c.1897G>A	c.(1897-1899)Gat>Aat	p.D633N	RP11-567G24.3_ENST00000412311.1_RNA|RP11-567G24.3_ENST00000444308.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	633					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.D776N(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAAACCTCCCGATGAGGAACA	0.483																																						ENST00000319653.9																			1	Substitution - Missense(1)	p.D776N(1)	large_intestine(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(1897-1899)Gat>Aat		formin 2							99	95	96					1																	240341335		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.chr1:240341335G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1897G>A	1.37:g.240341335G>A	ENSP00000318884:p.Asp633Asn		Somatic				RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA	p.D633N	NM_020066.4	NP_064450.3	WXS	Illumina GAIIx	Phase_I	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		3	2127	+	Ovarian(103;0.127)	all_cancers(173;0.013)	633					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1897G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	8.146	0.786347	0.16189	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T;T	0.80566	-1.39;-1.39	5.37	3.48	0.39840	.	0.611616	0.16020	N	0.233367	T	0.73071	0.3540	M	0.66939	2.045	0.80722	D	1	P	0.40681	0.727	B	0.27262	0.078	T	0.73110	-0.4086	10	0.87932	D	0	.	9.5207	0.39133	0.0753:0.1425:0.7822:0.0	.	633	Q9NZ56	FMN2_HUMAN	N	66;633	ENSP00000409308:D66N;ENSP00000318884:D633N	ENSP00000318884:D633N	D	+	1	0	FMN2	238407958	0.997000	0.39634	0.497000	0.27552	0.014000	0.08584	2.790000	0.47821	0.812000	0.34326	0.650000	0.86243	GAT		0.483	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		6	51	0	0	0	1	0	6	51					A	240341335	G	A	240341335	3	1	48	1	0	0	0	0	1	0	0	0	5958	1058	37	1	1907	1	FMN2	1	240341335	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2369064	240341335	8909286	412	4880										
FMN2	56776	broad.mit.edu	37	chr1	240492401	240492401	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acagtcagacgaactcgaaaAaatagaaaagcatggccgat	9	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:240492401A>C	ENST00000319653.9	+	9	4471	c.4241A>C	c.(4240-4242)aAa>aCa	p.K1414T	FMN2_ENST00000545751.1_Missense_Mutation_p.K10T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1414	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)			GAACTCGAAAAAATAGAAAAG	0.393																																						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.(4240-4242)aAa>aCa		formin 2							94	92	93					1																	240492401		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.chr1:240492401A>C	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.4241A>C	1.37:g.240492401A>C	ENSP00000318884:p.Lys1414Thr		Somatic				FMN2_ENST00000545751.1_Missense_Mutation_p.K10T	p.K1414T	NM_020066.4	NP_064450.3	WXS	Illumina GAIIx	Phase_I	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		9	4471	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1414			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4241A>C	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	A	18.06	3.538268	0.65085	.	.	ENSG00000155816	ENST00000319653;ENST00000441342;ENST00000545751;ENST00000537355	T;T;T	0.20200	2.09;2.09;2.09	5.68	4.54	0.55810	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000003	T	0.39860	0.1094	L	0.58354	1.805	0.80722	D	1	P;B;D;P	0.76494	0.872;0.099;0.999;0.858	P;B;D;P	0.66847	0.659;0.138;0.947;0.78	T	0.15607	-1.0431	10	0.62326	D	0.03	.	12.136	0.53972	0.8714:0.0:0.0:0.1285	.	10;60;43;1414	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	T	1414;60;10;41	ENSP00000318884:K1414T;ENSP00000388922:K60T;ENSP00000437918:K10T	ENSP00000318884:K1414T	K	+	2	0	FMN2	238559024	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	4.484000	0.60271	0.959000	0.37980	0.533000	0.62120	AAA		0.393	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		28	50	0	0	0	1	0	28	50					C	240492401	A	C	240492401	3	2	48	1	0	0	0	0	1	0	0	0	5958	14	1	4	4275	4	FMN2	1	240492401	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	151066	240492401	8758220	413	4881										
FMN2	56776	broad.mit.edu	37	chr1	240635744	240635744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaataaaaccaagacatgaCtctggaattgtaagtattac	6	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:240635744C>T	ENST00000319653.9	+	17	5363	c.5133C>T	c.(5131-5133)gaC>gaT	p.D1711D	AL646016.1_ENST00000596886.1_Intron|FMN2_ENST00000496950.1_3'UTR|FMN2_ENST00000543681.1_Silent_p.D31D|FMN2_ENST00000545751.1_Silent_p.D307D	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1711					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)			CAAGACATGACTCTGGAATTG	0.274																																						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.(5131-5133)gaC>gaT		formin 2							68	76	74					1																	240635744		2203	4296	6499	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240635744C>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.5133C>T	1.37:g.240635744C>T			Somatic				FMN2_ENST00000496950.1_3'UTR|FMN2_ENST00000543681.1_Silent_p.D31D|FMN2_ENST00000545751.1_Silent_p.D307D|AL646016.1_ENST00000596886.1_Intron	p.D1711D	NM_020066.4	NP_064450.3	WXS	Illumina GAIIx	Phase_I	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		17	5363	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1711					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.5133C>T	CCDS31069.2																																																																																				0.274	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	28	0	0	0	1	0	5	28					T	240635744	C	T	240635744	2	4	48	1	0	0	0	0	0	0	0	1	5958	564	20	3		3	FMN2	1	240635744	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	143343	240635744	8614877	414	4882										
RGS7	6000	broad.mit.edu	37	chr1	240966271	240966271	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacgtgggtatgaatcacttTtcatcagtttgtaaatgtgc	9	6	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:240966271T>G	ENST00000407727.1	-	15	1291	c.1292A>C	c.(1291-1293)aAa>aCa	p.K431T	RGS7_ENST00000331110.7_Missense_Mutation_p.K405T|RGS7_ENST00000401882.1_Missense_Mutation_p.K378T|RGS7_ENST00000348120.2_Missense_Mutation_p.K378T|RGS7_ENST00000446183.2_Missense_Mutation_p.K347T|RGS7_ENST00000366565.1_Missense_Mutation_p.K431T|RGS7_ENST00000366564.1_Missense_Mutation_p.K431T|RGS7_ENST00000366563.1_Missense_Mutation_p.K431T|RGS7_ENST00000366562.4_Missense_Mutation_p.K431T			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	431	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGAATCACTTTTCATCAGTTT	0.358																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1291-1293)aAa>aCa		regulator of G-protein signaling 7							129	136	134					1																	240966271		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240966271T>G	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1292A>C	1.37:g.240966271T>G	ENSP00000384428:p.Lys431Thr		Somatic				RGS7_ENST00000366564.1_Missense_Mutation_p.K431T|RGS7_ENST00000348120.2_Missense_Mutation_p.K378T|RGS7_ENST00000401882.1_Missense_Mutation_p.K378T|RGS7_ENST00000407727.1_Missense_Mutation_p.K431T|RGS7_ENST00000446183.2_Missense_Mutation_p.K347T|RGS7_ENST00000366562.4_Missense_Mutation_p.K431T|RGS7_ENST00000331110.7_Missense_Mutation_p.K405T|RGS7_ENST00000366563.1_Missense_Mutation_p.K431T	p.K431T	NM_002924.4	NP_002915.3	WXS	Illumina GAIIx	Phase_I	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		16	1673	-		all_cancers(173;0.0131)	431			RGS.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.1292A>C		.	.	.	.	.	.	.	.	.	.	T	27.2	4.812161	0.90707	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.02103	4.45;4.45;4.45;4.45;4.45;4.45;4.45;4.45;4.45;4.45	6.04	6.04	0.98038	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.044248	0.85682	D	0.000000	T	0.15782	0.0380	M	0.87682	2.9	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.81914	0.993;0.982;0.99;0.988;0.99;0.984;0.995	T	0.00145	-1.1993	10	0.87932	D	0	.	15.7697	0.78157	0.0:0.0:0.0:1.0	.	347;405;378;431;431;431;431	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	T	405;431;431;431;262;378;347;431;431;378	ENSP00000331485:K405T;ENSP00000355523:K431T;ENSP00000355522:K431T;ENSP00000355521:K431T;ENSP00000404399:K262T;ENSP00000341242:K378T;ENSP00000390138:K347T;ENSP00000355520:K431T;ENSP00000384428:K431T;ENSP00000385508:K378T	ENSP00000331485:K405T	K	-	2	0	RGS7	239032894	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	AAA		0.358	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		25	44	0	0	0	1	0	25	44					G	240966271	T	G	240966271	3	3	48	1	0	0	0	0	1	0	0	0	13325	1841	64	4	183	4	RGS7	1	240966271	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	330527	240966271	8284350	415	4883										
PLD5	200150	broad.mit.edu	37	chr1	242264056	242264056	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttgttcttttgtagcacaaGcattctctctttccagatca	5	10	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:242264056G>T	ENST00000536534.2	-	9	1509	c.1268C>A	c.(1267-1269)gCt>gAt	p.A423D	PLD5_ENST00000442594.2_Missense_Mutation_p.A331D|PLD5_ENST00000427495.1_Missense_Mutation_p.A361D			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	423						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGTAGCACAAGCATTCTCTCT	0.393																																						ENST00000442594.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(991-993)gCt>gAt		phospholipase D family, member 5							166	147	153					1																	242264056		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242264056G>T	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1268C>A	1.37:g.242264056G>T	ENSP00000440896:p.Ala423Asp		Somatic				PLD5_ENST00000427495.1_Missense_Mutation_p.A361D|PLD5_ENST00000536534.1_Missense_Mutation_p.A423D	p.A331D	NM_152666.2	NP_689879.2	WXS	Illumina GAIIx	Phase_I	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		10	1501	-	Melanoma(84;0.242)		423					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.992C>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014467	0.75161	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.23147	1.92;1.92;1.92	5.75	4.81	0.61882	.	0.180481	0.39146	N	0.001441	T	0.22322	0.0538	L	0.44542	1.39	0.33947	D	0.643924	P;P;P	0.40476	0.571;0.718;0.571	B;B;B	0.41332	0.354;0.216;0.354	T	0.20042	-1.0287	10	0.11794	T	0.64	-7.5309	11.9465	0.52930	0.084:0.0:0.916:0.0	.	331;423;361	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	D	361;331;423	ENSP00000401285:A361D;ENSP00000414188:A331D;ENSP00000440896:A423D	ENSP00000401285:A361D	A	-	2	0	PLD5	240330679	0.875000	0.30112	1.000000	0.80357	0.998000	0.95712	1.281000	0.33214	1.374000	0.46228	0.650000	0.86243	GCT		0.393	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		25	39	1	0	1.66031e-10	1	2.0393e-10	25	39					T	242264056	G	T	242264056	3	4	48	1	0	0	0	0	1	0	0	0	12058	971	34	5	350	5	PLD5	1	242264056	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1297785	242264056	6986565	416	4884										
KIF26B	55083	broad.mit.edu	37	chr1	245849741	245849741	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggttcccggaaactcctgtCgatgatgagcagcaggcagc	14	11	0	2	rs146698496	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:245849741C>T	ENST00000407071.2	+	12	3896	c.3456C>T	c.(3454-3456)gtC>gtT	p.V1152V	KIF26B_ENST00000366518.4_Silent_p.V771V	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1152					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)			AAACTCCTGTCGATGATGAGC	0.587													C|||	3	0.000599042	0.0023	0	5008	,	,		19189	0		0	False		,,,				2504	0					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.(2311-2313)gtC>gtT		kinesin family member 26B		C		10,4250		0,10,2120	60	70	67		3456	-11.5	0	1	dbSNP_134	67	0,8454		0,0,4227	no	coding-synonymous	KIF26B	NM_018012.3		0,10,6347	TT,TC,CC		0.0,0.2347,0.0787		1152/2109	245849741	10,12704	2130	4227	6357	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245849741C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3456C>T	1.37:g.245849741C>T			Somatic				KIF26B_ENST00000407071.2_Silent_p.V1152V	p.V771V			WXS	Illumina GAIIx	Phase_I	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	2417	+	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)		1152					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.2313C>T	CCDS44342.1																																																																																				0.587	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		34	70	0	0	0	1	0	34	70					T	245849741	C	T	245849741	2	4	48	1	0	0	0	0	0	0	0	1	8304	871	31	1		1	KIF26B	1	245849741	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3585685	245849741	3400880	417	4885										
OR2W5	441932	broad.mit.edu	37	chr1	247654907	247654907	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctaaactccttcatcatgTgtcctcagacgatgcagctc	6	14	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247654907T>C	ENST00000522351.1	+	0	538							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTTCATCATGTGTCCTCAGAC	0.572																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															118	91	100					1																	247654907		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654907T>C			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"GPCR / Class A : Olfactory receptors"	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654907T>C			Somatic								WXS	Illumina GAIIx	Phase_I	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	538	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.572	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		39	65	0	0	0	1	0	39	65					C	247654907	T	C	247654907	1	2	48	0	1	0	0	0	0	0	0	0	11043	1696	59	4		4	OR2W5	1	247654907	RNA	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1805166	247654907	1595714	418	4886										
OR2C3	81472	broad.mit.edu	37	chr1	247695252	247695252	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctggtatccacacaagccaGttgcataatgaggggcatct	11	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247695252G>T	ENST00000366487.3	-	2	923	c.562C>A	c.(562-564)Ctg>Atg	p.L188M	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			ACACAAGCCAGTTGCATAATG	0.547																																						ENST00000366487.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(562-564)Ctg>Atg		olfactory receptor, family 2, subfamily C, member 3							74	68	70					1																	247695252		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695252G>T	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.562C>A	1.37:g.247695252G>T	ENSP00000355443:p.Leu188Met		Somatic				GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron	p.L188M	NM_198074.4	NP_932340.3	WXS	Illumina GAIIx	Phase_I	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	923	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	188					Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.562C>A	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007586	0.35415	.	.	ENSG00000196242	ENST00000366487	T	0.00402	7.56	3.86	1.96	0.26148	GPCR, rhodopsin-like superfamily (1);	0.361960	0.16323	U	0.219486	T	0.00815	0.0027	M	0.78223	2.4	0.23727	N	0.997004	D	0.89917	1.0	D	0.81914	0.995	T	0.50849	-0.8779	10	0.32370	T	0.25	.	3.6927	0.08353	0.2124:0.0:0.5952:0.1923	.	188	Q8N628	OR2C3_HUMAN	M	188	ENSP00000355443:L188M	ENSP00000355443:L188M	L	-	1	2	OR2C3	245761875	0.966000	0.33281	0.486000	0.27416	0.918000	0.54935	1.262000	0.32992	0.413000	0.25759	0.644000	0.83932	CTG		0.547	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		15	28	1	0	2.31682e-05	1	2.54096e-05	15	28					T	247695252	G	T	247695252	3	4	48	1	0	0	0	0	1	0	0	0	11002	1020	36	5	404	5	OR2C3	1	247695252	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	40345	247695252	1555369	419	4887										
C1orf150	148823	broad.mit.edu	37	chr1	247719762	247719762	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggaaacccagatgaggaaaGaaaacggtaagaacagagca	12	6	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247719762G>T	ENST00000366488.4	+	2	187	c.83G>T	c.(82-84)aGa>aTa	p.R28I	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_5'UTR|GCSAML_ENST00000527084.1_5'UTR|GCSAML_ENST00000536561.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	28																	GATGAGGAAAGAAAACGGTAA	0.383																																						ENST00000366488.4																			0											c.(82-84)aGa>aTa		germinal center-associated, signaling and motility-like							90	106	100					1																	247719762		2203	4300	6503	SO:0001583	missense	148823							g.chr1:247719762G>T	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 150"	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.83G>T	1.37:g.247719762G>T	ENSP00000355444:p.Arg28Ile		Somatic				GCSAML_ENST00000527084.1_5'UTR|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_5'UTR|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000536561.1_Intron	p.R28I	NM_145278.3	NP_660321.1	WXS	Illumina GAIIx	Phase_I					2	187	+								B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.83G>T	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	G	2.710	-0.268910	0.05716	.	.	ENSG00000169224	ENST00000526896;ENST00000366488	.	.	.	2.79	-0.348	0.12613	.	.	.	.	.	T	0.15089	0.0364	N	0.08118	0	0.09310	N	0.999998	B	0.09022	0.002	B	0.11329	0.006	T	0.20940	-1.0260	8	0.33940	T	0.23	-2.1319	2.2717	0.04092	0.3104:0.0:0.4478:0.2418	.	28	Q5JQS6	CA150_HUMAN	I	28	.	ENSP00000355444:R28I	R	+	2	0	C1orf150	245786385	0.000000	0.05858	0.002000	0.10522	0.138000	0.21146	-0.197000	0.09518	-0.065000	0.13021	-0.448000	0.05591	AGA		0.383	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		8	22	1	0	5.18039e-06	1	5.75679e-06	8	22					T	247719762	G	T	247719762	3	4	48	1	0	0	0	0	1	0	0	0	2006	942	33	2	89	2	C1orf150	1	247719762	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	24510	247719762	1530859	420	4888										
OR6F1	343169	broad.mit.edu	37	chr1	247875278	247875278	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcatctttgatagaggtgcgGacgtgaaggaaaactgtgga	15	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247875278G>A	ENST00000302084.2	-	1	827	c.780C>T	c.(778-780)gtC>gtT	p.V260V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	260						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(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			TAGAGGTGCGGACGTGAAGGA	0.527																																						ENST00000302084.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(778-780)gtC>gtT		olfactory receptor, family 6, subfamily F, member 1							98	94	95					1																	247875278		2203	4300	6503	SO:0001819	synonymous_variant	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875278G>A	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.780C>T	1.37:g.247875278G>A			Somatic				RP11-634B7.4_ENST00000449298.1_RNA	p.V260V	NM_001005286.1	NP_001005286.1	WXS	Illumina GAIIx	Phase_I	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	827	-	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)		260					B2RNV6|Q6IF02|Q96R39	Silent	SNP	ENST00000302084.2	37	c.780C>T	CCDS31095.1																																																																																				0.527	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		6	92	0	0	0	1	0	6	92					A	247875278	G	A	247875278	2	1	48	1	0	0	0	0	0	0	0	1	11210	1161	41	3		3	OR6F1	1	247875278	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	155516	247875278	1375343	421	4889										
OR6F1	343169	broad.mit.edu	37	chr1	247875344	247875344	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agatgcgaggagcacgtggaGaaggctttgctccggccact	15	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247875344G>T	ENST00000302084.2	-	1	761	c.714C>A	c.(712-714)ttC>ttA	p.F238L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	238						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(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			AGCACGTGGAGAAGGCTTTGC	0.522																																						ENST00000302084.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(712-714)ttC>ttA		olfactory receptor, family 6, subfamily F, member 1							118	107	111					1																	247875344		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875344G>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.714C>A	1.37:g.247875344G>T	ENSP00000305640:p.Phe238Leu		Somatic				RP11-634B7.4_ENST00000449298.1_RNA	p.F238L	NM_001005286.1	NP_001005286.1	WXS	Illumina GAIIx	Phase_I	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	761	-	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)		238					B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.714C>A	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688576	0.29962	.	.	ENSG00000169214	ENST00000302084	T	0.00269	8.37	3.72	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000345	T	0.00440	0.0014	M	0.68317	2.08	0.34895	D	0.745907	D	0.76494	0.999	D	0.79108	0.992	T	0.68398	-0.5419	10	0.87932	D	0	-52.0338	11.2536	0.49041	0.1788:0.0:0.8212:0.0	.	238	Q8NGZ6	OR6F1_HUMAN	L	238	ENSP00000305640:F238L	ENSP00000305640:F238L	F	-	3	2	OR6F1	245941967	0.000000	0.05858	0.980000	0.43619	0.022000	0.10575	-1.197000	0.03038	0.048000	0.15891	-1.094000	0.02160	TTC		0.522	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		18	120	1	0	8.34094e-07	1	9.42356e-07	18	120					T	247875344	G	T	247875344	3	4	48	1	0	0	0	0	1	0	0	0	11210	933	33	2	216	2	OR6F1	1	247875344	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	66	247875344	1375277	422	4890										
OR1C1	26188	broad.mit.edu	37	chr1	247921674	247921674	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taggaagtcccagaaggacgAattccctgacaactgttaga	10	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247921674A>G	ENST00000408896.2	-	1	308	c.35T>C	c.(34-36)tTc>tCc	p.F12S		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	12					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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAGAAGGACGAATTCCCTGAC	0.408																																						ENST00000408896.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(34-36)tTc>tCc		olfactory receptor, family 1, subfamily C, member 1							44	43	43					1																	247921674		1984	4148	6132	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921674A>G	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"GPCR / Class A : Olfactory receptors"	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.35T>C	1.37:g.247921674A>G	ENSP00000386138:p.Phe12Ser		Somatic					p.F12S	NM_012353.2	NP_036485.2	WXS	Illumina GAIIx	Phase_I	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	308	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	12					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.35T>C	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.618764	0.46736	.	.	ENSG00000221888	ENST00000408896	T	0.04551	3.6	3.03	3.03	0.35002	.	.	.	.	.	T	0.33469	0.0864	H	0.98027	4.13	0.26533	N	0.974215	D	0.89917	1.0	D	0.75484	0.986	T	0.36553	-0.9743	9	0.87932	D	0	.	11.2945	0.49269	1.0:0.0:0.0:0.0	.	12	Q15619	OR1C1_HUMAN	S	12	ENSP00000386138:F12S	ENSP00000386138:F12S	F	-	2	0	OR1C1	245988297	0.321000	0.24625	0.954000	0.39281	0.330000	0.28571	2.556000	0.45862	1.378000	0.46305	0.528000	0.53228	TTC		0.408	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			4	33	0	0	0	1	0	4	33					G	247921674	A	G	247921674	3	3	48	1	0	0	0	0	1	0	0	0	10961	246	9	4	911	4	OR1C1	1	247921674	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	46330	247921674	1328947	423	4891										
OR14A16	284532	broad.mit.edu	37	chr1	247978588	247978588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acagcaatcagacccccataCagccaagacacagtggctct	7	15	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247978588C>T	ENST00000357627.1	-	1	443	c.444G>A	c.(442-444)ctG>ctA	p.L148L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GACCCCCATACAGCCAAGACA	0.502																																					Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(442-444)ctG>ctA		olfactory receptor, family 14, subfamily A, member 16							122	112	115					1																	247978588		2203	4300	6503	SO:0001819	synonymous_variant	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978588C>T	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"GPCR / Class A : Olfactory receptors"	15022	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AT, member 1"	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.444G>A	1.37:g.247978588C>T			Somatic					p.L148L	NM_001001966.1	NP_001001966.1	WXS	Illumina GAIIx	Phase_I	Q8NHC5	O14AG_HUMAN			1	443	-			148					Q6IF96	Silent	SNP	ENST00000357627.1	37	c.444G>A	CCDS31097.1																																																																																				0.502	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		43	95	0	0	0	1	0	43	95					T	247978588	C	T	247978588	2	4	48	1	0	0	0	0	0	0	0	1	10954	465	17	3		3	OR14A16	1	247978588	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	56914	247978588	1272033	424	4892										
OR2W3	343171	broad.mit.edu	37	chr1	248059536	248059536	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccttggtgtttatcctgctCtcttacagctacattgtgag	8	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248059536C>T	ENST00000360358.3	+	1	648	c.648C>T	c.(646-648)ctC>ctT	p.L216L	OR2W3_ENST00000537741.1_Silent_p.L216L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	216						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(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			TTATCCTGCTCTCTTACAGCT	0.582																																						ENST00000537741.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(646-648)ctC>ctT		olfactory receptor, family 2, subfamily W, member 3							203	183	190					1																	248059536		2203	4300	6503	SO:0001819	synonymous_variant	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059536C>T	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"GPCR / Class A : Olfactory receptors"	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.648C>T	1.37:g.248059536C>T			Somatic				OR2W3_ENST00000360358.3_Silent_p.L216L	p.L216L			WXS	Illumina GAIIx	Phase_I	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	905	+	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)		216					Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	c.648C>T	CCDS31099.1																																																																																				0.582	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		6	168	0	0	0	1	0	6	168					T	248059536	C	T	248059536	2	4	48	1	0	0	0	0	0	0	0	1	11042	900	32	3		3	OR2W3	1	248059536	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	80948	248059536	1191085	425	4893										
OR2W3	343171	broad.mit.edu	37	chr1	248059822	248059822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctggggaagagagagctaGgaaaggagtaaaggcatctc	15	5	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248059822G>A	ENST00000360358.3	+	1	934	c.934G>A	c.(934-936)Gga>Aga	p.G312R	OR2W3_ENST00000537741.1_Missense_Mutation_p.G312R	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	312						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(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			GAGAGAGCTAGGAAAGGAGTA	0.542																																						ENST00000537741.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(934-936)Gga>Aga		olfactory receptor, family 2, subfamily W, member 3							27	27	27					1																	248059822		2202	4300	6502	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059822G>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"GPCR / Class A : Olfactory receptors"	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.934G>A	1.37:g.248059822G>A	ENSP00000353516:p.Gly312Arg		Somatic				OR2W3_ENST00000360358.3_Missense_Mutation_p.G312R	p.G312R			WXS	Illumina GAIIx	Phase_I	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	1191	+	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)		312					Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.934G>A	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075616	0.36662	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00366	7.79;7.79	4.49	-0.688	0.11317	.	1.083490	0.07186	N	0.854788	T	0.00178	0.0005	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10683	-1.0619	10	0.19147	T	0.46	.	4.2279	0.10589	0.4687:0.0:0.37:0.1613	.	312	Q7Z3T1	OR2W3_HUMAN	R	312	ENSP00000445853:G312R;ENSP00000353516:G312R	ENSP00000353516:G312R	G	+	1	0	OR2W3	246126445	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-0.248000	0.08854	0.001000	0.14605	0.609000	0.83330	GGA		0.542	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		9	25	0	0	0	1	0	9	25					A	248059822	G	A	248059822	3	1	48	1	0	0	0	0	1	0	0	0	11042	1001	35	3	936	3	OR2W3	1	248059822	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	286	248059822	1190799	426	4894										
OR2L8	391190	broad.mit.edu	37	chr1	248113023	248113023	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaatgctcaaccccatcatCtatagcctgaggaacaagga	7	13	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248113023C>A	ENST00000357191.3	+	1	864	c.864C>A	c.(862-864)atC>atA	p.I288I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	288						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)			ACCCCATCATCTATAGCCTGA	0.498																																						ENST00000357191.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(862-864)atC>atA		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							69	56	61					1																	248113023		2203	4298	6501	SO:0001819	synonymous_variant	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248113023C>A	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.864C>A	1.37:g.248113023C>A			Somatic				OR2L13_ENST00000366478.2_Intron	p.I288I	NM_001001963.1	NP_001001963.1	WXS	Illumina GAIIx	Phase_I	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	864	+	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)		288					Q6IF03	Silent	SNP	ENST00000357191.3	37	c.864C>A	CCDS31101.1																																																																																				0.498	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			8	88	1	0	0.000274275	1	0.000292037	8	88					A	248113023	C	A	248113023	2	1	48	1	0	0	0	0	0	0	0	1	11018	903	32	2		2	OR2L8	1	248113023	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	53201	248113023	1137598	427	4895										
OR2L13	284521	broad.mit.edu	37	chr1	248262683	248262683	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagcagaaagttttcatggaGaaatggaatcacacttcaaa	8	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248262683G>T	ENST00000358120.2	+	2	151	c.6G>T	c.(4-6)gaG>gaT	p.E2D	OR2L13_ENST00000366478.2_Missense_Mutation_p.E2D			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TTTTCATGGAGAAATGGAATC	0.333																																						ENST00000366478.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(4-6)gaG>gaT		olfactory receptor, family 2, subfamily L, member 13							111	108	109					1																	248262683		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262683G>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"GPCR / Class A : Olfactory receptors"	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.6G>T	1.37:g.248262683G>T	ENSP00000350836:p.Glu2Asp		Somatic				OR2L13_ENST00000358120.2_Missense_Mutation_p.E2D	p.E2D	NM_175911.2	NP_787107.1	WXS	Illumina GAIIx	Phase_I	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	343	+	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)		2					Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.6G>T	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560381	0.27827	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.03035	4.07;4.07	3.74	2.82	0.32997	.	0.492718	0.16875	N	0.195957	T	0.02083	0.0065	N	0.05619	-0.0049999999999999	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.44329	-0.9335	10	0.41790	T	0.15	.	6.0991	0.20037	0.1019:0.0:0.7136:0.1846	.	2	Q8N349	OR2LD_HUMAN	D	2	ENSP00000355434:E2D;ENSP00000350836:E2D	ENSP00000350836:E2D	E	+	3	2	OR2L13	246329306	0.000000	0.05858	0.985000	0.45067	0.935000	0.57460	-1.838000	0.01687	0.901000	0.36495	0.650000	0.86243	GAG		0.333	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		21	35	1	0	7.41877e-09	1	8.8016e-09	21	35					T	248262683	G	T	248262683	3	4	48	1	0	0	0	0	1	0	0	0	11015	933	33	2	8	2	OR2L13	1	248262683	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	149660	248262683	987938	428	4896										
OR2M2	391194	broad.mit.edu	37	chr1	248343661	248343661	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcttatgaccgctatattgCtatttgccaccctctaagat	7	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248343661C>A	ENST00000359682.2	+	1	374	c.374C>A	c.(373-375)gCt>gAt	p.A125D		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, 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)			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)			CGCTATATTGCTATTTGCCAC	0.393																																						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.(373-375)gCt>gAt		olfactory receptor, family 2, subfamily M, member 2							208	218	215					1																	248343661		2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343661C>A	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.374C>A	1.37:g.248343661C>A	ENSP00000352710:p.Ala125Asp		Somatic					p.A125D	NM_001004688.1	NP_001004688.1	WXS	Illumina GAIIx	Phase_I	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	374	+	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)		125					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.374C>A	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	16.47	3.132333	0.56828	.	.	ENSG00000198601	ENST00000359682	T	0.01234	5.13	1.88	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30840	U	0.008771	T	0.15652	0.0377	H	0.99590	4.645	0.31908	N	0.615064	D	0.71674	0.998	D	0.69479	0.964	T	0.49634	-0.8919	10	0.87932	D	0	.	11.6433	0.51246	0.0:1.0:0.0:0.0	.	125	Q96R28	OR2M2_HUMAN	D	125	ENSP00000352710:A125D	ENSP00000352710:A125D	A	+	2	0	OR2M2	246410284	0.998000	0.40836	0.006000	0.13384	0.008000	0.06430	5.555000	0.67301	1.056000	0.40484	0.454000	0.30748	GCT		0.393	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		12	265	1	0	2.27111e-07	1	2.60515e-07	12	265					A	248343661	C	A	248343661	3	1	48	1	0	0	0	0	1	0	0	0	11019	797	28	5	376	5	OR2M2	1	248343661	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	80978	248343661	906960	429	4897										
OR2M3	127062	broad.mit.edu	37	chr1	248366810	248366810	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtggacttatgactgccttTtcctggatcctgggctctac	10	11	1	1	rs150518305	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248366810T>C	ENST00000456743.1	+	1	479	c.441T>C	c.(439-441)ttT>ttC	p.F147F		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	147						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)			TGACTGCCTTTTCCTGGATCC	0.453													t|||	7	0.00139776	0	0.0043	5008	,	,		19433	0		0.001	False		,,,				2504	0.0031					ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(439-441)ttT>ttC		olfactory receptor, family 2, subfamily M, member 3		T		1,4405	2.1+/-5.4	0,1,2202	204	200	201		441	-5.1	0	1	dbSNP_134	201	34,8566	22.8+/-68.1	0,34,4266	no	coding-synonymous	OR2M3	NM_001004689.1		0,35,6468	CC,CT,TT		0.3953,0.0227,0.2691		147/313	248366810	35,12971	2203	4300	6503	SO:0001819	synonymous_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366810T>C		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.441T>C	1.37:g.248366810T>C			Somatic					p.F147F	NM_001004689.1	NP_001004689.1	WXS	Illumina GAIIx	Phase_I	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	479	+	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)		147					B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	37	c.441T>C	CCDS31107.1																																																																																				0.453	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		7	217	0	0	0	1	0	7	217					C	248366810	T	C	248366810	2	2	48	1	0	0	0	0	0	0	0	1	11020	1838	64	4		4	OR2M3	1	248366810	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	23149	248366810	883811	430	4898										
OR2M4	26245	broad.mit.edu	37	chr1	248402359	248402359	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggcattgatggaaaatatTtccatggttctcctcatcta	7	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248402359T>G	ENST00000306687.1	+	1	129	c.129T>G	c.(127-129)atT>atG	p.I43M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	43					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(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGAAAATATTTCCATGGTTC	0.483																																						ENST00000306687.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(127-129)atT>atG		olfactory receptor, family 2, subfamily M, member 4							174	169	171					1																	248402359		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402359T>G	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"GPCR / Class A : Olfactory receptors"	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.129T>G	1.37:g.248402359T>G	ENSP00000306688:p.Ile43Met		Somatic					p.I43M	NM_017504.1	NP_059974.1	WXS	Illumina GAIIx	Phase_I	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	129	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		43					Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.129T>G	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	t	1.427	-0.571418	0.03882	.	.	ENSG00000171180	ENST00000306687	T	0.03035	4.07	3.08	-6.16	0.02098	GPCR, rhodopsin-like superfamily (1);	2.660430	0.02053	N	0.050191	T	0.02610	0.0079	N	0.25485	0.75	0.09310	N	1	B	0.18310	0.027	B	0.14578	0.011	T	0.38993	-0.9635	10	0.46703	T	0.11	.	0.9488	0.01371	0.2295:0.1758:0.3482:0.2465	.	43	Q96R27	OR2M4_HUMAN	M	43	ENSP00000306688:I43M	ENSP00000306688:I43M	I	+	3	3	OR2M4	246468982	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-3.316000	0.00515	-1.580000	0.01644	-0.641000	0.03968	ATT		0.483	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		43	83	0	0	0	1	0	43	83					G	248402359	T	G	248402359	3	3	48	1	0	0	0	0	1	0	0	0	11021	1829	64	4	131	4	OR2M4	1	248402359	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	35549	248402359	848262	431	4899										
OR2T12	127064	broad.mit.edu	37	chr1	248458370	248458370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcagaagaagtgatcgatctCgtgtgcaccgcaatatggga	13	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248458370C>T	ENST00000317996.1	-	1	510	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E171K(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGATCGATCTCGTGTGCACCG	0.562																																						ENST00000317996.1																			1	Substitution - Missense(1)	p.E171K(1)	large_intestine(1)	endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(511-513)Gag>Aag		olfactory receptor, family 2, subfamily T, member 12							115	98	104					1																	248458370		2201	4298	6499	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458370C>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.511G>A	1.37:g.248458370C>T	ENSP00000324583:p.Glu171Lys		Somatic					p.E171K	NM_001004692.1	NP_001004692.1	WXS	Illumina GAIIx	Phase_I	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	510	-	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)		171						Missense_Mutation	SNP	ENST00000317996.1	37	c.511G>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	c	12.64	1.999421	0.35320	.	.	ENSG00000177201	ENST00000317996	T	0.00123	8.7	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.492213	0.14954	N	0.288779	T	0.00178	0.0005	L	0.52206	1.635	0.09310	N	1	P	0.39940	0.696	P	0.45343	0.477	T	0.24870	-1.0148	10	0.44086	T	0.13	.	5.6681	0.17707	0.0:0.8249:0.0:0.1751	.	171	Q8NG77	O2T12_HUMAN	K	171	ENSP00000324583:E171K	ENSP00000324583:E171K	E	-	1	0	OR2T12	246524993	0.000000	0.05858	0.008000	0.14137	0.038000	0.13279	-5.491000	0.00118	0.645000	0.30675	0.175000	0.17021	GAG		0.562	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		33	80	0	0	0	1	0	33	80					T	248458370	C	T	248458370	3	4	48	1	0	0	0	0	1	0	0	0	11028	893	31	1	454	1	OR2T12	1	248458370	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	56011	248458370	792251	432	4900										
OR2T1	26696	broad.mit.edu	37	chr1	248569685	248569685	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atttccactattgtgcctaaGatgctggttaattacctgct	7	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248569685G>T	ENST00000366474.1	+	1	390	c.390G>T	c.(388-390)aaG>aaT	p.K130N		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K130N(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGTGCCTAAGATGCTGGTTA	0.453																																						ENST00000366474.1																			1	Substitution - Missense(1)	p.K130N(1)	lung(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(388-390)aaG>aaT		olfactory receptor, family 2, subfamily T, member 1							190	181	184					1																	248569685		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569685G>T	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"GPCR / Class A : Olfactory receptors"	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.390G>T	1.37:g.248569685G>T	ENSP00000355430:p.Lys130Asn		Somatic					p.K130N	NM_030904.1	NP_112166.1	WXS	Illumina GAIIx	Phase_I	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	390	+	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)		130					Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.390G>T	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	g	14.75	2.627981	0.46944	.	.	ENSG00000175143	ENST00000366474	T	0.00469	7.21	4.75	0.546	0.17196	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38548	U	0.001642	T	0.00608	0.0020	L	0.35341	1.055	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54781	-0.8242	10	0.87932	D	0	.	5.1983	0.15250	0.1636:0.0:0.4453:0.391	.	130	O43869	OR2T1_HUMAN	N	130	ENSP00000355430:K130N	ENSP00000355430:K130N	K	+	3	2	OR2T1	246636308	0.000000	0.05858	0.999000	0.59377	0.902000	0.53008	-1.385000	0.02540	0.595000	0.29777	0.650000	0.86243	AAG		0.453	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			45	100	1	0	2.35958e-20	1	3.23214e-20	45	100					T	248569685	G	T	248569685	3	4	48	1	0	0	0	0	1	0	0	0	11025	933	33	2	392	2	OR2T1	1	248569685	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	111315	248569685	680936	433	4901										
OR2T5	401993	broad.mit.edu	37	chr1	248651994	248651994	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctctacttagtgtggtcatCtttgtggttttcctgaaggc	11	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248651994C>A	ENST00000366473.2	+	1	110	c.105C>A	c.(103-105)atC>atA	p.I35I		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	35						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)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	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)			GTGTGGTCATCTTTGTGGTTT	0.488																																						ENST00000366473.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9						c.(103-105)atC>atA		olfactory receptor, family 2, subfamily T, member 5							124	142	136					1																	248651994		2199	4298	6497	SO:0001819	synonymous_variant	401993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248651994C>A	BK004465	CCDS31118.1	1q44	2012-08-09			ENSG00000203661	ENSG00000203661		"GPCR / Class A : Olfactory receptors"	15017	protein-coding gene	gene with protein product							Standard	NM_001004697		Approved		uc001iem.1	Q6IEZ7	OTTHUMG00000040481	ENST00000366473.2:c.105C>A	1.37:g.248651994C>A			Somatic					p.I35I	NM_001004697.1	NP_001004697.1	WXS	Illumina GAIIx	Phase_I	Q6IEZ7	OR2T5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	110	+	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)		35						Silent	SNP	ENST00000366473.2	37	c.105C>A	CCDS31118.1																																																																																				0.488	OR2T5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097422.1	NM_001004697		23	90	1	0	2.05212e-20	1	2.81235e-20	23	90					A	248651994	C	A	248651994	2	1	48	1	0	0	0	0	0	0	0	1	11037	903	32	2		2	OR2T5	1	248651994	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	82309	248651994	598627	434	4902										
SH3YL1	26751	broad.mit.edu	37	chr2	218858	218858	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaaatgccagtttgacctcGaagttttccttcccaccaat	5	12	0	1	rs186175944		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:218858G>A	ENST00000405430.1	-	12	1358	c.982C>T	c.(982-984)Cga>Tga	p.R328*	SH3YL1_ENST00000403712.2_Nonsense_Mutation_p.R309*|SH3YL1_ENST00000415006.2_Nonsense_Mutation_p.R232*|SH3YL1_ENST00000403657.1_Nonsense_Mutation_p.R213*|SH3YL1_ENST00000403658.1_Nonsense_Mutation_p.R213*|SH3YL1_ENST00000356150.5_Nonsense_Mutation_p.R328*|SH3YL1_ENST00000468321.1_5'UTR			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	328	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				phosphatidylinositol biosynthetic process (GO:0006661)|regulation of ruffle assembly (GO:1900027)	ruffle membrane (GO:0032587)	phosphatase binding (GO:0019902)|phosphatidylinositol binding (GO:0035091)			large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		GTTTGACCTCGAAGTTTTCCT	0.358													G|||	1	0.000199681	0	0	5008	,	,		17149	0		0.001	False		,,,				2504	0					ENST00000403657.1																			0				large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7						c.(637-639)Cga>Tga		SH3 and SYLF domain containing 1							127	118	121					2																	218858		1851	4091	5942	SO:0001587	stop_gained	26751							g.chr2:218858G>A		CCDS42646.1, CCDS42646.2, CCDS54332.1, CCDS62841.1	2p25.3	2013-10-18	2013-10-18		ENSG00000035115	ENSG00000035115			29546	protein-coding gene	gene with protein product			"SH3 domain containing, Ysc84-like 1 (S. cerevisiae)"			21624956	Standard	NM_001282687		Approved	Ray, DKFZP586F1318	uc002qvx.3	Q96HL8	OTTHUMG00000151359	ENST00000405430.1:c.982C>T	2.37:g.218858G>A	ENSP00000384269:p.Arg328*		Somatic				SH3YL1_ENST00000403712.2_Nonsense_Mutation_p.R309*|SH3YL1_ENST00000405430.1_Nonsense_Mutation_p.R328*|SH3YL1_ENST00000415006.2_Nonsense_Mutation_p.R232*|SH3YL1_ENST00000403658.1_Nonsense_Mutation_p.R213*|SH3YL1_ENST00000356150.5_Nonsense_Mutation_p.R328*|SH3YL1_ENST00000468321.1_5'UTR	p.R213*			WXS	Illumina GAIIx	Phase_I	Q96HL8	SH3Y1_HUMAN		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)	12	2832	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)	328					A8K8E7|B7WNJ4|B7WPL6|Q8NEL2|Q9H5X4|Q9Y3V5	Nonsense_Mutation	SNP	ENST00000405430.1	37	c.637C>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.682699	0.96774	.	.	ENSG00000035115	ENST00000415006;ENST00000403712;ENST00000403657;ENST00000405430;ENST00000356150;ENST00000403658;ENST00000451005	.	.	.	6.03	5.14	0.70334	.	0.418604	0.24029	N	0.042219	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-6.2242	12.1146	0.53858	0.0:0.0:0.6885:0.3115	.	.	.	.	X	232;309;213;328;328;213;241	.	ENSP00000348471:R328X	R	-	1	2	SH3YL1	208858	0.997000	0.39634	0.992000	0.48379	0.967000	0.64934	1.665000	0.37449	1.500000	0.48636	0.655000	0.94253	CGA		0.358	SH3YL1-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322352.1	NM_015677		18	26	0	0	0	1	0	18	26					A	218858	G	A	218858	4	1	48	1	0	0	0	0	0	1	0	0	14278	1066	37	1	50	1	SH3YL1	2	218858	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08		218858	242980515	435	4903										
SNTG2	54221	broad.mit.edu	37	chr2	1263164	1263164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagcacattcgattgggtgcGagcagaaaggacctatcacc	12	10	1	1	rs371971068		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:1263164G>A	ENST00000308624.5	+	13	1157	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	SNTG2_ENST00000407292.1_Missense_Mutation_p.R216Q	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	343	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GATTGGGTGCGAGCAGAAAGG	0.388																																						ENST00000308624.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1027-1029)cGa>cAa		syntrophin, gamma 2		G	GLN/ARG	0,3758		0,0,1879	110	106	108		1028	1.9	0	2		108	2,8238		0,2,4118	no	missense	SNTG2	NM_018968.3	43	0,2,5997	AA,AG,GG		0.0243,0.0,0.0167	benign	343/540	1263164	2,11996	1879	4120	5999	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1263164G>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.1028G>A	2.37:g.1263164G>A	ENSP00000311837:p.Arg343Gln		Somatic				SNTG2_ENST00000407292.1_Missense_Mutation_p.R216Q	p.R343Q	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)	13	1157	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	343			PH.		Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.1028G>A	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	5.407	0.260226	0.10239	0.0	2.43E-4	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.69040	1.19;-0.37	4.76	1.89	0.25635	Pleckstrin homology domain (1);	0.222920	0.39759	N	0.001270	T	0.46833	0.1413	L	0.28504	0.86	0.35341	D	0.786466	B;B	0.28880	0.226;0.056	B;B	0.16722	0.016;0.002	T	0.43893	-0.9363	10	0.40728	T	0.16	.	6.7047	0.23244	0.1567:0.0:0.6998:0.1435	.	216;343	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	Q	343;216	ENSP00000311837:R343Q;ENSP00000385020:R216Q	ENSP00000311837:R343Q	R	+	2	0	SNTG2	1245764	1.000000	0.71417	0.005000	0.12908	0.005000	0.04900	2.081000	0.41596	0.079000	0.16929	-0.154000	0.13518	CGA		0.388	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		15	35	0	0	0	1	0	15	35					A	1263164	G	A	1263164	3	1	48	1	0	0	0	0	1	0	0	0	14890	1058	37	1	1078	1	SNTG2	2	1263164	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1044306	1263164	241936209	436	4904										
MYT1L	23040	broad.mit.edu	37	chr2	1906946	1906946	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgtcgtaactgttgtattcAaacgaggtcttggaatattt	9	5	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:1906946A>G	ENST00000399161.2	-	14	2685	c.1938T>C	c.(1936-1938)ttT>ttC	p.F646F	MYT1L_ENST00000428368.2_Silent_p.F644F	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	646					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)		TGTTGTATTCAAACGAGGTCT	0.483																																						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.(1936-1938)ttT>ttC		myelin transcription factor 1-like							151	138	143					2																	1906946		1923	4139	6062	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1906946A>G	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.1938T>C	2.37:g.1906946A>G			Somatic				MYT1L_ENST00000428368.2_Silent_p.F644F	p.F646F	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)	14	2685	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	646					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.1938T>C																																																																																					0.483	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		10	63	0	0	0	1	0	10	63					G	1906946	A	G	1906946	2	3	48	1	0	0	0	0	0	0	0	1	10116	127	5	4		4	MYT1L	2	1906946	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	643782	1906946	241292427	437	4905										
TTC15	51112	broad.mit.edu	37	chr2	3428329	3428329	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggctggcactactagtgaagTtgggccttttccagaatgct	12	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:3428329T>G	ENST00000324266.5	+	5	1507	c.1312T>G	c.(1312-1314)Ttg>Gtg	p.L438V	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L438V	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	438					vesicle-mediated transport (GO:0016192)												ACTAGTGAAGTTGGGCCTTTT	0.423																																						ENST00000324266.5																			0											c.(1312-1314)Ttg>Gtg		trafficking protein particle complex 12							168	165	166					2																	3428329		2203	4300	6503	SO:0001583	missense	51112						binding	g.chr2:3428329T>G	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1312T>G	2.37:g.3428329T>G	ENSP00000324318:p.Leu438Val		Somatic				TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L438V	p.L438V	NM_016030.5	NP_057114.5	WXS	Illumina GAIIx	Phase_I	Q8WVT3	TTC15_HUMAN			5	1507	+			438					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.1312T>G	CCDS1652.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.74|19.74	3.883366|3.883366	0.72410|0.72410	.|.	.|.	ENSG00000171853|ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266|ENST00000441983	T;T|.	0.56275|.	0.47;0.47|.	5.6|5.6	-0.612|-0.612	0.11597|0.11597	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.75177|0.75177	0.3814|0.3814	M|M	0.88640|0.88640	2.97|2.97	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.76071|.	0.96;0.987|.	T|T	0.75687|0.75687	-0.3231|-0.3231	10|5	0.66056|.	D|.	0.02|.	.|.	10.2376|10.2376	0.43292|0.43292	0.0:0.6793:0.0:0.3207|0.0:0.6793:0.0:0.3207	.|.	421;438|.	E7ENL7;Q8WVT3|.	.;TPC12_HUMAN|.	V|R	438;421;438|117	ENSP00000371544:L438V;ENSP00000324318:L438V|.	ENSP00000303612:L421V|.	L|S	+|+	1|3	2|2	TTC15|TTC15	3407336|3407336	0.917000|0.917000	0.31117|0.31117	0.998000|0.998000	0.56505|0.56505	0.902000|0.902000	0.53008|0.53008	0.052000|0.052000	0.14163|0.14163	-0.071000|-0.071000	0.12886|0.12886	0.460000|0.460000	0.39030|0.39030	TTG|AGT		0.423	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		48	90	0	0	0	1	0	48	90					G	3428329	T	G	3428329	3	3	48	1	0	0	0	0	1	0	0	0	16697	1722	60	4	1326	4	TTC15	2	3428329	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1521383	3428329	239771044	438	4906										
RPS7	6201	broad.mit.edu	37	chr2	3628443	3628443	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agctcacgggcaaggatgttAattttgaattcccagagttt	10	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:3628443A>G	ENST00000304921.5	+	7	720	c.556A>G	c.(556-558)Aat>Gat	p.N186D	RPS7_ENST00000406376.1_Missense_Mutation_p.N186D|RPS7_ENST00000403564.1_Missense_Mutation_p.N186D|SNORA73_ENST00000516722.1_RNA	NM_001011.3	NP_001002.1	P62081	RS7_HUMAN	ribosomal protein S7	186					cellular protein metabolic process (GO:0044267)|cytoplasmic translation (GO:0002181)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|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)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		CAAGGATGTTAATTTTGAATT	0.303																																						ENST00000304921.5																			0				endometrium(1)|lung(2)|urinary_tract(1)	4						c.(556-558)Aat>Gat		ribosomal protein S7							87	87	87					2																	3628443		2202	4297	6499	SO:0001583	missense	6201				endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:3628443A>G		CCDS1648.1	2p25	2011-04-05			ENSG00000171863	ENSG00000171863		"S ribosomal proteins"	10440	protein-coding gene	gene with protein product		603658				8522193, 10625621	Standard	NM_001011		Approved	S7	uc002qxw.3	P62081	OTTHUMG00000090305	ENST00000304921.5:c.556A>G	2.37:g.3628443A>G	ENSP00000339095:p.Asn186Asp		Somatic				RPS7_ENST00000406376.1_Missense_Mutation_p.N186D|RPS7_ENST00000403564.1_Missense_Mutation_p.N186D	p.N186D	NM_001011.3	NP_001002.1	WXS	Illumina GAIIx	Phase_I	P62081	RS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)	7	720	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		186					P23821|P24818|Q57Z92|Q6IPH1	Missense_Mutation	SNP	ENST00000304921.5	37	c.556A>G	CCDS1648.1	.	.	.	.	.	.	.	.	.	.	A	9.496	1.101832	0.20632	.	.	ENSG00000171863	ENST00000304921;ENST00000403564;ENST00000406376	.	.	.	4.6	4.6	0.57074	.	0.193646	0.43416	D	0.000573	T	0.45796	0.1360	M	0.72118	2.19	0.20703	N	0.999863	B	0.29671	0.254	B	0.36186	0.219	T	0.38845	-0.9642	9	0.28530	T	0.3	.	5.8311	0.18581	0.8006:0.0:0.1994:0.0	.	186	P62081	RS7_HUMAN	D	186	.	ENSP00000339095:N186D	N	+	1	0	RPS7	3606318	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.563000	0.53784	1.835000	0.53391	0.533000	0.62120	AAT		0.303	RPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206667.1	NM_001011		8	22	0	0	0	1	0	8	22					G	3628443	A	G	3628443	3	3	48	1	0	0	0	0	1	0	0	0	13675	362	13	4	578	4	RPS7	2	3628443	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	200114	3628443	239570930	439	4907										
ALLC	55821	broad.mit.edu	37	chr2	3727581	3727581	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcaagcagcaaacttggaaGaaggtgcgttaggaaccact	11	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:3727581G>T	ENST00000252505.3	+	5	457	c.295G>T	c.(295-297)Gaa>Taa	p.E99*		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	118					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		AAACTTGGAAGAAGGTGCGTT	0.547										HNSCC(21;0.051)																												ENST00000252505.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(295-297)Gaa>Taa		allantoicase							98	102	101					2																	3727581		2067	4201	6268	SO:0001587	stop_gained	55821						allantoicase activity	g.chr2:3727581G>T	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.295G>T	2.37:g.3727581G>T	ENSP00000252505:p.Glu99*	HNSCC(21;0.051)	Somatic					p.E99*	NM_018436.3	NP_060906.3	WXS	Illumina GAIIx	Phase_I	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	5	457	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	118					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Nonsense_Mutation	SNP	ENST00000252505.3	37	c.295G>T	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	33	5.287007	0.95517	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	0.606	0.17559	.	0.662303	0.15447	N	0.261887	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-10.131	5.5355	0.17009	0.2466:0.3988:0.3546:0.0	.	.	.	.	X	99	.	ENSP00000252505:E99X	E	+	1	0	ALLC	3705456	0.977000	0.34250	0.779000	0.31741	0.743000	0.42351	1.537000	0.36083	0.446000	0.26666	0.655000	0.94253	GAA		0.547	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			39	48	1	0	4.92203e-23	1	6.86763e-23	39	48					T	3727581	G	T	3727581	4	4	48	1	0	0	0	0	0	1	0	0	534	943	33	2	309	2	ALLC	2	3727581	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	99138	3727581	239471792	440	4908										
ALLC	55821	broad.mit.edu	37	chr2	3729237	3729237	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actacagataaactaccagaAatcccagaaagaggaaccag	7	10	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:3729237A>T	ENST00000252505.3	+	6	474	c.312A>T	c.(310-312)gaA>gaT	p.E104D		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	123					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		AACTACCAGAAATCCCAGAAA	0.443										HNSCC(21;0.051)																												ENST00000252505.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(310-312)gaA>gaT		allantoicase							51	53	52					2																	3729237		1876	4101	5977	SO:0001583	missense	55821						allantoicase activity	g.chr2:3729237A>T	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.312A>T	2.37:g.3729237A>T	ENSP00000252505:p.Glu104Asp	HNSCC(21;0.051)	Somatic					p.E104D	NM_018436.3	NP_060906.3	WXS	Illumina GAIIx	Phase_I	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	6	474	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	123					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.312A>T	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	A	0.631	-0.817349	0.02776	.	.	ENSG00000151360	ENST00000252505	.	.	.	4.98	-3.97	0.04094	Allantoicase domain (1);Galactose-binding domain-like (1);	0.755084	0.13315	N	0.397142	T	0.19846	0.0477	N	0.17800	0.525	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.22626	-1.0211	9	0.18710	T	0.47	-11.9901	5.9057	0.19001	0.2951:0.4444:0.2605:0.0	.	123	Q8N6M5	ALLC_HUMAN	D	104	.	ENSP00000252505:E104D	E	+	3	2	ALLC	3707112	0.000000	0.05858	0.012000	0.15200	0.012000	0.07955	-0.253000	0.08794	-0.399000	0.07668	-0.297000	0.09499	GAA		0.443	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			12	16	0	0	0	1	0	12	16					T	3729237	A	T	3729237	3	4	48	1	0	0	0	0	1	0	0	0	534	11	1	4	330	4	ALLC	2	3729237	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1656	3729237	239470136	441	4909										
RSAD2	91543	broad.mit.edu	37	chr2	7030405	7030405	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgaagaatttgaaagattCttggagcgccacaaagaagt	11	5	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:7030405C>T	ENST00000382040.3	+	4	973	c.837C>T	c.(835-837)ttC>ttT	p.F279F	RSAD2_ENST00000541728.1_Silent_p.F172F	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)		TTGAAAGATTCTTGGAGCGCC	0.393																																						ENST00000382040.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20						c.(835-837)ttC>ttT		radical S-adenosyl methionine domain containing 2							116	113	114					2																	7030405		2203	4300	6503	SO:0001819	synonymous_variant	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7030405C>T	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.837C>T	2.37:g.7030405C>T			Somatic				RSAD2_ENST00000541728.1_Silent_p.F172F	p.F279F	NM_080657.4	NP_542388.2	WXS	Illumina GAIIx	Phase_I	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	4	973	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		279						Silent	SNP	ENST00000382040.3	37	c.837C>T	CCDS1656.1																																																																																				0.393	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		19	35	0	0	0	1	0	19	35					T	7030405	C	T	7030405	2	4	48	1	0	0	0	0	0	0	0	1	13710	912	32	3		3	RSAD2	2	7030405	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3301168	7030405	236168968	442	4910										
KIDINS220	57498	broad.mit.edu	37	chr2	8871069	8871069	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctaattccctccatctcatcGaaattttgattggctctgtt	5	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:8871069G>A	ENST00000256707.3	-	30	5278	c.5097C>T	c.(5095-5097)ttC>ttT	p.F1699F	KIDINS220_ENST00000473731.1_Silent_p.F1680F|KIDINS220_ENST00000427284.1_Silent_p.F1680F|KIDINS220_ENST00000418530.1_Silent_p.F1600F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1699					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)					CCATCTCATCGAAATTTTGAT	0.468																																						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.(5095-5097)ttC>ttT		kinase D-interacting substrate, 220kDa							120	111	114					2																	8871069		1908	4129	6037	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8871069G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.5097C>T	2.37:g.8871069G>A			Somatic				KIDINS220_ENST00000418530.1_Silent_p.F1600F|KIDINS220_ENST00000473731.1_Silent_p.F1680F|KIDINS220_ENST00000427284.1_Silent_p.F1680F	p.F1699F	NM_020738.2	NP_065789.1	WXS	Illumina GAIIx	Phase_I	Q9ULH0	KDIS_HUMAN			30	5278	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1699					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.5097C>T	CCDS42650.1																																																																																				0.468	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		25	31	0	0	0	1	0	25	31					A	8871069	G	A	8871069	2	1	48	1	0	0	0	0	0	0	0	1	8280	1049	37	1		1	KIDINS220	2	8871069	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1840664	8871069	234328304	443	4911										
ADAM17	6868	broad.mit.edu	37	chr2	9676860	9676860	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtgaagaagtcctgccattTtacagtgtactcgctttcgt	9	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:9676860T>G	ENST00000310823.3	-	3	510	c.328A>C	c.(328-330)Aaa>Caa	p.K110Q	ADAM17_ENST00000497134.1_Missense_Mutation_p.K110Q	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	110					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TCCTGCCATTTTACAGTGTAC	0.418																																						ENST00000310823.3																			0				breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28						c.(328-330)Aaa>Caa		ADAM metallopeptidase domain 17							196	166	176					2																	9676860		2203	4300	6503	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9676860T>G	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.328A>C	2.37:g.9676860T>G	ENSP00000309968:p.Lys110Gln		Somatic				ADAM17_ENST00000497134.1_Missense_Mutation_p.K110Q	p.K110Q	NM_003183.4	NP_003174.3	WXS	Illumina GAIIx	Phase_I	P78536	ADA17_HUMAN		Epithelial(75;0.225)	3	510	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		110					O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.328A>C	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	T	5.965	0.362064	0.11296	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.05925	3.37;3.37	5.42	5.42	0.78866	Peptidase M12B, propeptide (1);	0.292121	0.38381	N	0.001705	T	0.04407	0.0121	N	0.11724	0.165	0.30137	N	0.804284	B;B;B;B	0.15930	0.015;0.0;0.008;0.0	B;B;B;B	0.17433	0.018;0.002;0.018;0.002	T	0.19031	-1.0318	10	0.30078	T	0.28	.	11.8245	0.52259	0.0:0.0:0.1888:0.8112	.	110;110;110;110	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	Q	110	ENSP00000309968:K110Q;ENSP00000418728:K110Q	ENSP00000309968:K110Q	K	-	1	0	ADAM17	9594311	0.989000	0.36119	0.192000	0.23308	0.381000	0.30169	2.542000	0.45744	2.045000	0.60652	0.477000	0.44152	AAA		0.418	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			28	48	0	0	0	1	0	28	48					G	9676860	T	G	9676860	3	3	48	1	0	0	0	0	1	0	0	0	238	1850	64	4	2214	4	ADAM17	2	9676860	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	805791	9676860	233522513	444	4912										
TAF1B	9014	broad.mit.edu	37	chr2	10050892	10050892	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcatagcttaacttgccacgTggtaaaaatgactggaatgg	11	7	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10050892T>C	ENST00000263663.5	+	10	1171	c.983T>C	c.(982-984)gTg>gCg	p.V328A	TAF1B_ENST00000396242.3_Missense_Mutation_p.V73A	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	328	C-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTTGCCACGTGGTAAAAATG	0.343																																						ENST00000263663.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(982-984)gTg>gCg		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa							127	115	119					2																	10050892		2203	4300	6503	SO:0001583	missense	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:10050892T>C	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.983T>C	2.37:g.10050892T>C	ENSP00000263663:p.Val328Ala		Somatic				TAF1B_ENST00000396242.3_Missense_Mutation_p.V73A	p.V328A	NM_005680.2	NP_005671.2	WXS	Illumina GAIIx	Phase_I	Q53T94	TAF1B_HUMAN			10	1171	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		328					B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	ENST00000263663.5	37	c.983T>C	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.579803	0.65992	.	.	ENSG00000115750	ENST00000263663;ENST00000396242	T;T	0.03689	3.84;3.84	5.8	5.8	0.92144	.	0.263632	0.36778	N	0.002401	T	0.14013	0.0339	M	0.69823	2.125	0.45056	D	0.998072	D;D	0.61697	0.982;0.99	P;P	0.57371	0.664;0.819	T	0.00466	-1.1722	9	.	.	.	-19.5074	16.1464	0.81575	0.0:0.0:0.0:1.0	.	328;328	Q53T94;Q53T94-2	TAF1B_HUMAN;.	A	328;73	ENSP00000263663:V328A;ENSP00000379542:V73A	.	V	+	2	0	TAF1B	9968343	1.000000	0.71417	0.750000	0.31169	0.444000	0.32077	5.529000	0.67135	2.220000	0.72140	0.383000	0.25322	GTG		0.343	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		4	53	0	0	0	1	0	4	53					C	10050892	T	C	10050892	3	2	48	1	0	0	0	0	1	0	0	0	15535	1696	59	4	1021	4	TAF1B	2	10050892	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	374032	10050892	233148481	445	4913										
GRHL1	29841	broad.mit.edu	37	chr2	10104055	10104055	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagaagcttcaaaatcacttCgacagaagccaggagacagt	9	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10104055C>T	ENST00000324907.9	+	6	923	c.787C>T	c.(787-789)Cga>Tga	p.R263*	GRHL1_ENST00000324883.5_Nonsense_Mutation_p.R74*|GRHL1_ENST00000405379.2_Nonsense_Mutation_p.R263*	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	263					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		AAAATCACTTCGACAGAAGCC	0.438																																						ENST00000324907.9																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(787-789)Cga>Tga		grainyhead-like 1 (Drosophila)							110	100	104					2																	10104055		2203	4300	6503	SO:0001587	stop_gained	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10104055C>T	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"transcription factor CP2-like 2"	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.787C>T	2.37:g.10104055C>T	ENSP00000324693:p.Arg263*		Somatic				GRHL1_ENST00000324883.5_Nonsense_Mutation_p.R74*|GRHL1_ENST00000405379.2_Nonsense_Mutation_p.R263*	p.R263*	NM_198182.2	NP_937825.2	WXS	Illumina GAIIx	Phase_I	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	6	923	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		263					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Nonsense_Mutation	SNP	ENST00000324907.9	37	c.787C>T	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	C	35	5.437854	0.96168	.	.	ENSG00000134317	ENST00000405379;ENST00000324883;ENST00000324907	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0268	0.64590	0.1511:0.8489:0.0:0.0	.	.	.	.	X	263;74;263	.	ENSP00000324494:R74X	R	+	1	2	GRHL1	10021506	0.998000	0.40836	0.802000	0.32245	0.897000	0.52465	3.732000	0.55021	2.603000	0.88011	0.655000	0.94253	CGA		0.438	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		11	31	0	0	0	1	0	11	31					T	10104055	C	T	10104055	4	4	48	1	0	0	0	0	0	1	0	0	6772	876	31	1	809	1	GRHL1	2	10104055	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	53163	10104055	233095318	446	4914										
ODC1	4953	broad.mit.edu	37	chr2	10582167	10582167	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgtctgttcctttaatacaAttttcttggcaatgatatta	5	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10582167A>C	ENST00000234111.4	-	9	1394	c.884T>G	c.(883-885)aTt>aGt	p.I295S	ODC1_ENST00000446285.1_5'Flank|ODC1_ENST00000405333.1_Missense_Mutation_p.I295S	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	295					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	CTTTAATACAATTTTCTTGGC	0.398																																						ENST00000234111.4																			0				NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19						c.(883-885)aTt>aGt		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						117	110	112					2																	10582167		2203	4300	6503	SO:0001583	missense	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10582167A>C		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.884T>G	2.37:g.10582167A>C	ENSP00000234111:p.Ile295Ser		Somatic				ODC1_ENST00000405333.1_Missense_Mutation_p.I295S	p.I295S	NM_002539.1	NP_002530.1	WXS	Illumina GAIIx	Phase_I	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	9	1394	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		295					Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	c.884T>G	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	A	1.426	-0.571614	0.03882	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.40476	1.03;1.03	5.79	2.03	0.26663	Orn/DAP/Arg decarboxylase 2, C-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	1.029350	0.07636	N	0.929498	T	0.26666	0.0652	N	0.25201	0.72	0.28221	N	0.926522	B	0.02656	0.0	B	0.11329	0.006	T	0.31308	-0.9948	10	0.09843	T	0.71	.	7.8051	0.29198	0.6693:0.262:0.0686:0.0	.	295	P11926	DCOR_HUMAN	S	295;295;166	ENSP00000234111:I295S;ENSP00000385333:I295S	ENSP00000234111:I295S	I	-	2	0	ODC1	10499618	1.000000	0.71417	0.001000	0.08648	0.366000	0.29705	3.638000	0.54332	0.107000	0.17824	0.460000	0.39030	ATT		0.398	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			9	61	0	0	0	1	0	9	61					C	10582167	A	C	10582167	3	2	48	1	0	0	0	0	1	0	0	0	10834	101	4	4	517	4	ODC1	2	10582167	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	478112	10582167	232617206	447	4915										
NOL10	79954	broad.mit.edu	37	chr2	10712246	10712246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgacttcaggtgtccggccGaacgacggagtcttttcctt	11	11	2	1	rs142436125		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10712246G>A	ENST00000381685.5	-	21	2123	c.2018C>T	c.(2017-2019)tCg>tTg	p.S673L	NOL10_ENST00000542668.1_Missense_Mutation_p.S623L|NOL10_ENST00000345985.3_Missense_Mutation_p.S623L|NOL10_ENST00000538384.1_Missense_Mutation_p.S647L	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	673						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GTGTCCGGCCGAACGACGGAG	0.483													G|||	1	0.000199681	0	0	5008	,	,		17736	0.001		0	False		,,,				2504	0					ENST00000345985.3																			0											c.(1867-1869)tCg>tTg		nucleolar protein 10							270	246	254					2																	10712246		2203	4300	6503	SO:0001583	missense	79954					nucleolus		g.chr2:10712246G>A	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"polyglutamine binding protein 5"	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.2018C>T	2.37:g.10712246G>A	ENSP00000371101:p.Ser673Leu		Somatic				NOL10_ENST00000542668.1_Missense_Mutation_p.S623L|NOL10_ENST00000538384.1_Missense_Mutation_p.S647L|NOL10_ENST00000381685.5_Missense_Mutation_p.S673L	p.S623L	NM_001261394.1	NP_001248323.1	WXS	Illumina GAIIx	Phase_I	Q9BSC4	NOL10_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)	20	1978	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		673					A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	ENST00000381685.5	37	c.1868C>T	CCDS1673.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.0	4.080432	0.76528	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.46451	0.87;2.1;1.46;2.1	5.75	5.75	0.90469	.	0.123708	0.56097	D	0.000023	T	0.58921	0.2156	M	0.70275	2.135	0.50039	D	0.999849	D;D;D	0.63880	0.993;0.993;0.989	P;P;P	0.53490	0.632;0.632;0.727	T	0.59348	-0.7471	10	0.51188	T	0.08	-0.5579	19.9392	0.97153	0.0:0.0:1.0:0.0	.	647;673;623	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	L	623;673;623;647	ENSP00000263837:S623L;ENSP00000371101:S673L;ENSP00000437625:S623L;ENSP00000439663:S647L	ENSP00000263837:S623L	S	-	2	0	NOL10	10629697	0.985000	0.35326	0.015000	0.15790	0.640000	0.38277	6.796000	0.75145	2.713000	0.92767	0.655000	0.94253	TCG		0.483	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894		53	84	0	0	0	1	0	53	84					A	10712246	G	A	10712246	3	1	48	1	0	0	0	0	1	0	0	0	10529	1059	37	1	52	1	NOL10	2	10712246	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	130079	10712246	232487127	448	4916										
NOL10	79954	broad.mit.edu	37	chr2	10729370	10729370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttcatcatctgaactctccGaactttctgcatcacttggt	5	12	6	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10729370G>A	ENST00000381685.5	-	19	1748	c.1643C>T	c.(1642-1644)tCg>tTg	p.S548L	AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000542668.1_Missense_Mutation_p.S498L|NOL10_ENST00000345985.3_Missense_Mutation_p.S498L|NOL10_ENST00000538384.1_Missense_Mutation_p.S522L	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	548						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TGAACTCTCCGAACTTTCTGC	0.493																																						ENST00000345985.3																			0											c.(1492-1494)tCg>tTg		nucleolar protein 10							129	127	127					2																	10729370		2203	4300	6503	SO:0001583	missense	79954					nucleolus		g.chr2:10729370G>A	AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"polyglutamine binding protein 5"	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.1643C>T	2.37:g.10729370G>A	ENSP00000371101:p.Ser548Leu		Somatic				NOL10_ENST00000542668.1_Missense_Mutation_p.S498L|AC092687.5_ENST00000414538.1_RNA|NOL10_ENST00000538384.1_Missense_Mutation_p.S522L|NOL10_ENST00000381685.5_Missense_Mutation_p.S548L	p.S498L	NM_001261394.1	NP_001248323.1	WXS	Illumina GAIIx	Phase_I	Q9BSC4	NOL10_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)	18	1603	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		548					A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	ENST00000381685.5	37	c.1493C>T	CCDS1673.2	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418013	0.62622	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384	T;T;T;T	0.49720	0.77;2.17;1.38;2.17	5.65	5.65	0.86999	.	0.203849	0.52532	D	0.000067	T	0.66187	0.2764	M	0.61703	1.905	0.54753	D	0.999984	P;P;D	0.69078	0.848;0.931;0.997	B;B;D	0.66847	0.048;0.174;0.947	T	0.60752	-0.7201	10	0.32370	T	0.25	-2.4595	19.7284	0.96174	0.0:0.0:1.0:0.0	.	522;548;498	B4DLV0;Q9BSC4;Q9BSC4-2	.;NOL10_HUMAN;.	L	498;548;498;522	ENSP00000263837:S498L;ENSP00000371101:S548L;ENSP00000437625:S498L;ENSP00000439663:S522L	ENSP00000263837:S498L	S	-	2	0	NOL10	10646821	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.159000	0.77483	2.668000	0.90789	0.591000	0.81541	TCG		0.493	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239227.1	NM_024894		18	44	0	0	0	1	0	18	44					A	10729370	G	A	10729370	3	1	48	1	0	0	0	0	1	0	0	0	10529	1059	37	1	435	1	NOL10	2	10729370	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	17124	10729370	232470003	449	4917										
ROCK2	9475	broad.mit.edu	37	chr2	11337450	11337450	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtcatctgcagttcaattcGaatctggctctcttcagcta	7	11	6	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:11337450G>A	ENST00000315872.6	-	27	3752	c.3304C>T	c.(3304-3306)Cga>Tga	p.R1102*	ROCK2_ENST00000401753.1_Nonsense_Mutation_p.R859*	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1102					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)		AGTTCAATTCGAATCTGGCTC	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.(3304-3306)Cga>Tga		Rho-associated, coiled-coil containing protein kinase 2							109	99	102					2																	11337450		1907	4134	6041	SO:0001587	stop_gained	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.chr2:11337450G>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.3304C>T	2.37:g.11337450G>A	ENSP00000317985:p.Arg1102*		Somatic				ROCK2_ENST00000401753.1_Nonsense_Mutation_p.R859*	p.R1102*	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)	27	3752	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1102					Q53QZ0|Q53SJ7|Q9UQN5	Nonsense_Mutation	SNP	ENST00000315872.6	37	c.3304C>T	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	G	46	12.105282	0.99636	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	15.2303	0.73383	0.0:0.0:0.7929:0.2071	.	.	.	.	X	1102;859;460	.	ENSP00000317985:R1102X	R	-	1	2	ROCK2	11254901	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.649000	0.67936	2.700000	0.92200	0.563000	0.77884	CGA		0.368	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			16	33	0	0	0	1	0	16	33					A	11337450	G	A	11337450	4	1	48	1	0	0	0	0	0	1	0	0	13533	1066	37	1	890	1	ROCK2	2	11337450	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	608080	11337450	231861923	450	4918										
ROCK2	9475	broad.mit.edu	37	chr2	11364495	11364495	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctttgcatgtttggaaatTtctgcatcttcagggaaaca	8	7	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:11364495T>G	ENST00000315872.6	-	7	1408	c.960A>C	c.(958-960)gaA>gaC	p.E320D	ROCK2_ENST00000401753.1_Missense_Mutation_p.E77D	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	320	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)		GTTTGGAAATTTCTGCATCTT	0.323																																						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.(958-960)gaA>gaC		Rho-associated, coiled-coil containing protein kinase 2							126	118	120					2																	11364495		1830	4084	5914	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.chr2:11364495T>G	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.960A>C	2.37:g.11364495T>G	ENSP00000317985:p.Glu320Asp		Somatic				ROCK2_ENST00000401753.1_Missense_Mutation_p.E77D	p.E320D	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)	7	1408	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		320			Protein kinase.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.960A>C	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	T	6.000	0.368385	0.11352	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000431087	T;T;T	0.65916	-0.18;-0.18;-0.18	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);	0.052903	0.64402	D	0.000001	T	0.44138	0.1279	L	0.28776	0.89	0.44798	D	0.997804	B	0.06786	0.001	B	0.11329	0.006	T	0.34625	-0.9821	10	0.02654	T	1	.	10.3356	0.43847	0.0:0.0733:0.0:0.9267	.	320	O75116	ROCK2_HUMAN	D	320;77;147	ENSP00000317985:E320D;ENSP00000385509:E77D;ENSP00000395957:E147D	ENSP00000261535:E320D	E	-	3	2	ROCK2	11281946	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.186000	0.32078	2.166000	0.68216	0.402000	0.26972	GAA		0.323	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			29	36	0	0	0	1	0	29	36					G	11364495	T	G	11364495	3	3	48	1	0	0	0	0	1	0	0	0	13533	1838	64	4	3314	4	ROCK2	2	11364495	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	27045	11364495	231834878	451	4919										
NBAS	51594	broad.mit.edu	37	chr2	15555741	15555741	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agctaaagttactaaatattCttttaatagctcattagcca	4	7	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:15555741C>A	ENST00000281513.5	-	25	2891	c.2866G>T	c.(2866-2868)Gaa>Taa	p.E956*	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	956					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						ACTAAATATTCTTTTAATAGC	0.368																																						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.(2866-2868)Gaa>Taa		neuroblastoma amplified sequence							68	73	72					2																	15555741		2202	4300	6502	SO:0001587	stop_gained	51594							g.chr2:15555741C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2866G>T	2.37:g.15555741C>A	ENSP00000281513:p.Glu956*		Somatic				NBAS_ENST00000441750.1_Intron	p.E956*	NM_015909.3	NP_056993.2	WXS	Illumina GAIIx	Phase_I	A2RRP1	NBAS_HUMAN			25	2891	-			956					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Nonsense_Mutation	SNP	ENST00000281513.5	37	c.2866G>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	9.871903|9.871903	0.99284|0.99284	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000281513|ENST00000429842	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.043599|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77638	.|0.4160	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73658	.|-0.3913	.|4	0.87932|.	D|.	0|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	956|53	.|.	ENSP00000281513:E956X|.	E|R	-|-	1|2	0|0	NBAS|NBAS	15473192|15473192	1.000000|1.000000	0.71417|0.71417	0.920000|0.920000	0.36463|0.36463	0.905000|0.905000	0.53344|0.53344	5.653000|5.653000	0.67967|0.67967	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.368	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		24	41	1	0	1.55469e-16	1	2.07108e-16	24	41					A	15555741	C	A	15555741	4	1	48	1	0	0	0	0	0	1	0	0	10195	922	32	2	4361	2	NBAS	2	15555741	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4191246	15555741	227643632	452	4920										
FAM49A	81553	broad.mit.edu	37	chr2	16740730	16740730	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttcacaactattcttacatCgatcttggatgtcttgcaga	6	9	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:16740730C>T	ENST00000381323.3	-	10	1055	c.835G>A	c.(835-837)Gat>Aat	p.D279N	FAM49A_ENST00000406434.1_Missense_Mutation_p.D279N|FAM49A_ENST00000355549.2_Missense_Mutation_p.D279N	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	279						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			ATTCTTACATCGATCTTGGAT	0.483																																						ENST00000381323.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23						c.(835-837)Gat>Aat		family with sequence similarity 49, member A							142	134	137					2																	16740730		2203	4300	6503	SO:0001583	missense	81553					intracellular		g.chr2:16740730C>T	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.835G>A	2.37:g.16740730C>T	ENSP00000370724:p.Asp279Asn		Somatic				FAM49A_ENST00000406434.1_Missense_Mutation_p.D279N|FAM49A_ENST00000355549.2_Missense_Mutation_p.D279N	p.D279N	NM_030797.3	NP_110424.1	WXS	Illumina GAIIx	Phase_I	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)		10	1055	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		279					B3KNZ1|Q53QW2	Missense_Mutation	SNP	ENST00000381323.3	37	c.835G>A	CCDS1688.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785631	0.70337	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	T;T;T	0.52057	0.68;0.68;0.68	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	M	0.72894	2.215	0.80722	D	1	B	0.22480	0.07	B	0.30782	0.12	T	0.50524	-0.8818	10	0.34782	T	0.22	-16.0852	18.1646	0.89721	0.0:1.0:0.0:0.0	.	279	Q9H0Q0	FA49A_HUMAN	N	279	ENSP00000370724:D279N;ENSP00000384771:D279N;ENSP00000347744:D279N	ENSP00000347744:D279N	D	-	1	0	FAM49A	16604211	1.000000	0.71417	0.998000	0.56505	0.899000	0.52679	7.773000	0.85462	2.611000	0.88343	0.655000	0.94253	GAT		0.483	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797		39	45	0	0	0	1	0	39	45					T	16740730	C	T	16740730	3	4	48	1	0	0	0	0	1	0	0	0	5583	884	31	1	148	1	FAM49A	2	16740730	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1184989	16740730	226458643	453	4921										
RDH14	57665	broad.mit.edu	37	chr2	18736896	18736896	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtatttataaagtttggaaGaaactaccacaatcctgctg	7	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:18736896G>T	ENST00000381249.3	-	2	679	c.572C>A	c.(571-573)tCt>tAt	p.S191Y	NT5C1B-RDH14_ENST00000532967.1_3'UTR|RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1	Q9HBH5	RDH14_HUMAN	retinol dehydrogenase 14 (all-trans/9-cis/11-cis)	191					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)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)				Vitamin A(DB00162)	AAGTTTGGAAGAAACTACCAC	0.418																																						ENST00000381249.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(571-573)tCt>tAt		retinol dehydrogenase 14 (all-trans/9-cis/11-cis)							54	60	58					2																	18736896		2203	4299	6502	SO:0001583	missense	57665							g.chr2:18736896G>T	AF237952	CCDS1693.1	2p24.2	2011-09-14	2006-05-09		ENSG00000240857	ENSG00000240857	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19979	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 4"		"retinol dehydrogenase 14 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_020905		Approved	PAN2, SDR7C4		Q9HBH5	OTTHUMG00000090705	ENST00000381249.3:c.572C>A	2.37:g.18736896G>T	ENSP00000370648:p.Ser191Tyr		Somatic				NT5C1B-RDH14_ENST00000532967.1_3'UTR|RDH14_ENST00000468071.1_5'UTR	p.S191Y	NM_020905.3	NP_065956.1	WXS	Illumina GAIIx	Phase_I					2	679	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)								Missense_Mutation	SNP	ENST00000381249.3	37	c.572C>A	CCDS1693.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598906	0.87055	.	.	ENSG00000240857;ENSG00000250741	ENST00000381249;ENST00000444297	D;T	0.94497	-3.44;1.09	5.67	5.67	0.87782	NAD(P)-binding domain (1);	.	.	.	.	D	0.98532	0.9510	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.967;0.992	D	0.99353	1.0915	9	0.87932	D	0	.	19.7728	0.96373	0.0:0.0:1.0:0.0	.	505;191	C9J2C7;Q9HBH5	.;RDH14_HUMAN	Y	191;505	ENSP00000370648:S191Y;ENSP00000412639:S505Y	ENSP00000412639:S505Y	S	-	2	0	NT5C1B-RDH14;RDH14	18600377	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.869000	0.99810	2.687000	0.91594	0.655000	0.94253	TCT		0.418	RDH14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207394.1			8	54	1	0	0.0381472	1	0.0387537	8	54					T	18736896	G	T	18736896	3	4	48	1	0	0	0	0	1	0	0	0	13208	942	33	2	442	2	RDH14	2	18736896	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1996166	18736896	224462477	454	4922										
NT5C1B	93034	broad.mit.edu	37	chr2	18764226	18764226	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ataagtcctgttcatcaggaTatagatcacggagtctagca	9	8	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:18764226T>C	ENST00000359846.2	-	7	1186	c.1109A>G	c.(1108-1110)tAt>tGt	p.Y370C	RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000304081.4_Missense_Mutation_p.Y310C|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.Y370C|NT5C1B_ENST00000600945.1_Missense_Mutation_p.Y370C	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	370					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTCATCAGGATATAGATCACG	0.463																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(928-930)tAt>tGt		5'-nucleotidase, cytosolic IB							128	117	121					2																	18764226		2203	4300	6503	SO:0001583	missense	93034							g.chr2:18764226T>C	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1109A>G	2.37:g.18764226T>C	ENSP00000352904:p.Tyr370Cys		Somatic				NT5C1B_ENST00000359846.2_Missense_Mutation_p.Y370C|NT5C1B_ENST00000600945.1_Missense_Mutation_p.Y370C|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.Y370C	p.Y310C	NM_033253.3	NP_150278.2	WXS	Illumina GAIIx	Phase_I					6	1029	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.929A>G	CCDS33150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.5|21.5	4.154805|4.154805	0.78114|0.78114	.|.	.|.	ENSG00000185013|ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000418427|ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	.|D	.|0.90444	.|-2.67	6.13|6.13	6.13|6.13	0.99165|0.99165	.|.	.|0.058705	.|0.64402	.|D	.|0.000001	D|D	0.95781|0.95781	0.8627|0.8627	M|M	0.86178|0.86178	2.8|2.8	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.97110	.|0.984;0.984;0.984;0.984;1.0;0.973;0.984;0.991	D|D	0.95843|0.95843	0.8868|0.8868	5|10	.|0.56958	.|D	.|0.05	-16.0452|-16.0452	16.8061|16.8061	0.85666|0.85666	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|353;387;310;353;312;310;370;370	.|E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.|.;.;.;.;.;.;5NT1B_HUMAN;.	M|C	24|370;312;310;370	.|ENSP00000412639:Y312C	.|ENSP00000305979:Y310C	I|Y	-|-	3|2	3|0	NT5C1B|NT5C1B-RDH14;NT5C1B	18627707|18627707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	8.037000|8.037000	0.88933|0.88933	2.367000|2.367000	0.80283|0.80283	0.529000|0.529000	0.55759|0.55759	ATA|TAT		0.463	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			9	35	0	0	0	1	0	9	35					C	18764226	T	C	18764226	3	2	48	1	0	0	0	0	1	0	0	0	10695	1406	49	4	739	4	NT5C1B	2	18764226	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	27330	18764226	224435147	455	4923										
MATN3	4148	broad.mit.edu	37	chr2	20200270	20200270	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacaatgatgggaccctgttCtgtcattcacacaaatgtgc	8	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:20200270C>A	ENST00000407540.3	-	5	1162	c.1100G>T	c.(1099-1101)aGa>aTa	p.R367I	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Missense_Mutation_p.R325I	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	367	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.R367K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACCCTGTTCTGTCATTCAC	0.388																																						ENST00000407540.3																			1	Substitution - Missense(1)	p.R367K(1)	skin(1)	central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13						c.(1099-1101)aGa>aTa		matrilin 3							75	70	72					2																	20200270		1847	4097	5944	SO:0001583	missense	4148				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr2:20200270C>A	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.1100G>T	2.37:g.20200270C>A	ENSP00000383894:p.Arg367Ile		Somatic				MATN3_ENST00000421259.2_Missense_Mutation_p.R325I|AC079145.4_ENST00000416575.1_RNA	p.R367I	NM_002381.4	NP_002372.1	WXS	Illumina GAIIx	Phase_I	O15232	MATN3_HUMAN			5	1162	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		367			EGF-like 3.		B2CPU0|Q4ZG02	Missense_Mutation	SNP	ENST00000407540.3	37	c.1100G>T	CCDS46226.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993570	0.35131	.	.	ENSG00000132031	ENST00000407540;ENST00000421259	T;T	0.63913	-0.04;-0.07	5.72	4.84	0.62591	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.677397	0.14653	N	0.306488	T	0.35740	0.0942	N	0.05487	-0.04	0.20638	N	0.999876	P;P	0.42908	0.793;0.536	B;B	0.34138	0.176;0.163	T	0.09335	-1.0679	10	0.37606	T	0.19	0.0068	7.5886	0.28008	0.0:0.7486:0.0:0.2514	.	325;367	B2CPU0;O15232	.;MATN3_HUMAN	I	367;325	ENSP00000383894:R367I;ENSP00000398753:R325I	ENSP00000383894:R367I	R	-	2	0	MATN3	20063751	0.008000	0.16893	0.759000	0.31340	0.892000	0.51952	0.645000	0.24782	1.549000	0.49425	0.591000	0.81541	AGA		0.388	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1	NM_002381		10	24	1	0	2.74318e-10	1	3.35981e-10	10	24					A	20200270	C	A	20200270	3	1	48	1	0	0	0	0	1	0	0	0	9344	913	32	2	376	2	MATN3	2	20200270	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1436044	20200270	222999103	456	4924										
APOB	338	broad.mit.edu	37	chr2	21225596	21225596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgaaccattatggactttcGaatatacctgggacagtacc	8	10	0	1	rs377125320		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:21225596G>A	ENST00000233242.1	-	29	12825	c.12698C>T	c.(12697-12699)tCg>tTg	p.S4233L	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4233					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)					ATGGACTTTCGAATATACCTG	0.413																																						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.(12697-12699)tCg>tTg		apolipoprotein B	Atorvastatin(DB01076)	A	LEU/SER	0,4406		0,0,2203	90	95	93		12698	2.7	0	2		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	APOB	NM_000384.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	4233/4564	21225596	1,13005	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.chr2:21225596G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12698C>T	2.37:g.21225596G>A	ENSP00000233242:p.Ser4233Leu		Somatic					p.S4233L	NM_000384.2	NP_000375.2	WXS	Illumina GAIIx	Phase_I	P04114	APOB_HUMAN			29	12825	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4233					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.12698C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	g	11.14	1.550105	0.27652	0.0	1.16E-4	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00856	5.61	5.47	2.7	0.31948	.	0.657873	0.13321	N	0.396700	T	0.01189	0.0039	L	0.36672	1.1	0.09310	N	0.999996	B	0.16802	0.019	B	0.11329	0.006	T	0.46034	-0.9220	10	0.45353	T	0.12	.	11.4216	0.49985	0.2615:0.0:0.7385:0.0	.	4233	P04114	APOB_HUMAN	L	4233	ENSP00000233242:S4233L	ENSP00000233242:S4233L	S	-	2	0	APOB	21079101	0.008000	0.16893	0.000000	0.03702	0.000000	0.00434	1.167000	0.31847	0.046000	0.15833	-1.733000	0.00692	TCG		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			16	39	0	0	0	1	0	16	39					A	21225596	G	A	21225596	3	1	48	1	0	0	0	0	1	0	0	0	785	1059	37	1	997	1	APOB	2	21225596	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1025326	21225596	221973777	457	4925										
APOB	338	broad.mit.edu	37	chr2	21230633	21230633	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgggctgaaaagaaaagaGaatttttcaaagttccaata	9	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:21230633G>T	ENST00000233242.1	-	26	9234	c.9107C>A	c.(9106-9108)tCt>tAt	p.S3036Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3036					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.S3036Y(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGAAAAGAGAATTTTTCAA	0.408																																						ENST00000233242.1																			1	Substitution - Missense(1)	p.S3036Y(1)	large_intestine(1)	NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(9106-9108)tCt>tAt		apolipoprotein B	Atorvastatin(DB01076)						49	54	52					2																	21230633		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.chr2:21230633G>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.9107C>A	2.37:g.21230633G>T	ENSP00000233242:p.Ser3036Tyr		Somatic					p.S3036Y	NM_000384.2	NP_000375.2	WXS	Illumina GAIIx	Phase_I	P04114	APOB_HUMAN			26	9234	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3036					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.9107C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784583	0.49997	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.39406	1.08	5.87	5.87	0.94306	.	0.224693	0.32175	N	0.006479	T	0.61949	0.2388	M	0.73962	2.25	0.80722	D	1	D	0.67145	0.996	P	0.61800	0.894	T	0.64812	-0.6319	10	0.87932	D	0	.	14.8744	0.70483	0.0:0.0:0.8228:0.1772	.	3036	P04114	APOB_HUMAN	Y	3036	ENSP00000233242:S3036Y	ENSP00000233242:S3036Y	S	-	2	0	APOB	21084138	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.728000	0.54991	2.780000	0.95670	0.655000	0.94253	TCT		0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			14	32	1	0	0.00244969	1	0.00255607	14	32					T	21230633	G	T	21230633	3	4	48	1	0	0	0	0	1	0	0	0	785	942	33	2	4600	2	APOB	2	21230633	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5037	21230633	221968740	458	4926										
ATAD2B	54454	broad.mit.edu	37	chr2	23980445	23980445	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gactggtcctccagaagaatCttttgttcagaactacattt	7	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:23980445C>A	ENST00000238789.5	-	25	4264	c.3921G>T	c.(3919-3921)aaG>aaT	p.K1307N	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	1307						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)					CCAGAAGAATCTTTTGTTCAG	0.383																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(3919-3921)aaG>aaT		ATPase family, AAA domain containing 2B							180	175	177					2																	23980445		1830	4091	5921	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:23980445C>A	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.3921G>T	2.37:g.23980445C>A	ENSP00000238789:p.Lys1307Asn		Somatic				ATAD2B_ENST00000474583.1_5'UTR	p.K1307N	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	WXS	Illumina GAIIx	Phase_I	Q9ULI0	ATD2B_HUMAN			25	4264	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1307					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.3921G>T	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.82|10.82	1.457547|1.457547	0.26161|0.26161	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789;ENST00000546030|ENST00000381024	D|.	0.92149|.	-2.98|.	5.27|5.27	3.29|3.29	0.37713|0.37713	.|.	1.374100|.	0.05028|.	N|.	0.474136|.	T|T	0.21962|0.21962	0.0529|0.0529	N|N	0.19112|0.19112	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	0.16129|0.16129	-1.0413|-1.0413	10|5	0.20519|.	T|.	0.43|.	.|.	4.4277|4.4277	0.11511|0.11511	0.3966:0.4848:0.0:0.1187|0.3966:0.4848:0.0:0.1187	.|.	1307;1302|.	Q9ULI0;Q9ULI0-2|.	ATD2B_HUMAN;.|.	N|I	1307;475|583	ENSP00000238789:K1307N|.	ENSP00000238789:K1307N|.	K|R	-|-	3|2	2|0	ATAD2B|ATAD2B	23833949|23833949	0.214000|0.214000	0.23563|0.23563	0.838000|0.838000	0.33150|0.33150	0.986000|0.986000	0.74619|0.74619	0.399000|0.399000	0.20916|0.20916	1.313000|1.313000	0.45069|0.45069	0.563000|0.563000	0.77884|0.77884	AAG|AGA		0.383	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		8	129	1	0	0.00621372	1	0.0064192	8	129					A	23980445	C	A	23980445	3	1	48	1	0	0	0	0	1	0	0	0	1072	912	32	2	471	2	ATAD2B	2	23980445	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2749812	23980445	219218928	459	4927										
ATAD2B	54454	broad.mit.edu	37	chr2	23980888	23980889	+	Frame_Shift_Ins	INS	-	-	T													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatttggtgtcttcttcatcINStttttttaaattattaactt							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:23980888_23980889insT	ENST00000238789.5	-	25	3820_3821	c.3477_3478insA	c.(3475-3480)aaagatfs	p.D1160fs	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	1160						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)					TCTTCTTCATCTTTTTTTAAAT	0.386																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(3475-3480)aaatgafs		ATPase family, AAA domain containing 2B																																				SO:0001589	frameshift_variant	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:23980888_23980889insT	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.3478dupA	2.37:g.23980895_23980895dupT	ENSP00000238789:p.Asp1160fs		Somatic				ATAD2B_ENST00000474583.1_5'UTR	p.*1160fs	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	WXS	Illumina GAIIx	Phase_I	Q9ULI0	ATD2B_HUMAN			25	3820_3821	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1160					B9ZVQ5|Q6ZNA6|Q8N9E7	Frame_Shift_Ins	INS	ENST00000238789.5	37	c.3477_3478insA	CCDS46227.1																																																																																				0.386	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		11	37						11	37	---	---	---	---	T	23980889	-	T	23980888	7	5	48	1	0	1	1	0	0	0	0	0	1072	913	32	0	914	0	ATAD2B	2	23980888	Frame_Shift_Ins	INS	-	TCGA-ND-A4WC-01A-21D-A28R-08	443	23980888	219218485	460	4928										
C2orf44	80304	broad.mit.edu	37	chr2	24261807	24261807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtgaagagtcttctgagcGctgtcccaaatataagaatg	10	8	2	4	rs151169389	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:24261807G>A	ENST00000295148.4	-	2	615	c.558C>T	c.(556-558)agC>agT	p.S186S	C2orf44_ENST00000406895.3_Silent_p.S186S	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	186									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCTGAGCGCTGTCCCAAA	0.557			T	ALK	NSCLC																																	ENST00000295148.4				Dom	yes		2	2p23.3	80304	T	chromosome 2 open reading frame 44			E	ALK		NSCLC	C2orf44/ALK(2)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24						c.(556-558)agC>agT		chromosome 2 open reading frame 44		A	,	2,4404	826.0+/-416.6	0,2,2201	52	48	49		558,558	2.6	0.8	2	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C2orf44	NM_001142319.1,NM_025203.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	186/623,186/722	24261807	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	80304						protein binding	g.chr2:24261807G>A	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.558C>T	2.37:g.24261807G>A			Somatic				C2orf44_ENST00000406895.3_Silent_p.S186S	p.S186S	NM_025203.2	NP_079479.1	WXS	Illumina GAIIx	Phase_I	Q9H6R7	CB044_HUMAN			2	615	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		186					D6W532|Q8IYK0|Q9HBP5	Silent	SNP	ENST00000295148.4	37	c.558C>T	CCDS1705.1																																																																																				0.557	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		10	37	0	0	0	1	0	10	37					A	24261807	G	A	24261807	2	1	48	1	0	0	0	0	0	0	0	1	2170	1078	38	1		1	C2orf44	2	24261807	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	280919	24261807	218937566	461	4929										
ITSN2	50618	broad.mit.edu	37	chr2	24509172	24509172	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttctttaagtctttggcatAattcttccttttctaatgat	5	7	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:24509172A>C	ENST00000355123.4	-	16	2215	c.1772T>G	c.(1771-1773)tTa>tGa	p.L591*	ITSN2_ENST00000361999.3_Nonsense_Mutation_p.L591*|ITSN2_ENST00000406921.3_Nonsense_Mutation_p.L591*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	591					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)					TCTTTGGCATAATTCTTCCTT	0.308																																						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.(1771-1773)tTa>tGa		intersectin 2							96	96	96					2																	24509172		2202	4300	6502	SO:0001587	stop_gained	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24509172A>C	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.1772T>G	2.37:g.24509172A>C	ENSP00000347244:p.Leu591*		Somatic				ITSN2_ENST00000361999.3_Nonsense_Mutation_p.L591*|ITSN2_ENST00000406921.3_Nonsense_Mutation_p.L591*	p.L591*	NM_006277.2	NP_006268.2	WXS	Illumina GAIIx	Phase_I	Q9NZM3	ITSN2_HUMAN			16	2215	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		591					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Nonsense_Mutation	SNP	ENST00000355123.4	37	c.1772T>G	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	A	38	6.897655	0.97920	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	.	.	.	5.33	5.33	0.75918	.	0.000000	0.28952	U	0.013608	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	14.1859	0.65605	1.0:0.0:0.0:0.0	.	.	.	.	X	591	.	ENSP00000347244:L591X	L	-	2	0	ITSN2	24362676	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.160000	0.50739	2.151000	0.67156	0.383000	0.25322	TTA		0.308	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		4	33	0	0	0	1	0	4	33					C	24509172	A	C	24509172	4	2	48	1	0	0	0	0	0	1	0	0	7936	372	13	4	3472	4	ITSN2	2	24509172	Nonsense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	247365	24509172	218690201	462	4930										
DNAJC27	51277	broad.mit.edu	37	chr2	25194715	25194715	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttcggcgttgcccatggagAtgactttgatgcggagagac	14	9	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:25194715A>G	ENST00000264711.2	-	1	248	c.59T>C	c.(58-60)aTc>aCc	p.I20T	DNAJC27-AS1_ENST00000421842.1_RNA|DNAJC27-AS1_ENST00000445389.1_RNA|DNAJC27_ENST00000534855.1_5'Flank|DNAJC27-AS1_ENST00000421904.1_RNA|DNAJC27_ENST00000468467.1_5'Flank|DNAJC27-AS1_ENST00000422449.1_RNA|DNAJC27-AS1_ENST00000451291.1_RNA|SNORD14_ENST00000365609.1_RNA|DNAJC27-AS1_ENST00000428614.1_RNA|DNAJC27-AS1_ENST00000434897.1_RNA	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	20					small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCCCATGGAGATGACTTTGAT	0.677																																						ENST00000264711.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(58-60)aTc>aCc		DnaJ (Hsp40) homolog, subfamily C, member 27							50	44	46					2																	25194715		2203	4300	6503	SO:0001583	missense	51277				protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding	g.chr2:25194715A>G		CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"Heat shock proteins / DNAJ (HSP40)"	30290	protein-coding gene	gene with protein product		613527	"rab and DnaJ domain containing"	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.59T>C	2.37:g.25194715A>G	ENSP00000264711:p.Ile20Thr		Somatic				DNAJC27-AS1_ENST00000451291.1_RNA|DNAJC27-AS1_ENST00000421904.1_RNA	p.I20T	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	WXS	Illumina GAIIx	Phase_I	Q9NZQ0	DJC27_HUMAN			1	248	-			20					Q5JV88|Q86Y24	Missense_Mutation	SNP	ENST00000264711.2	37	c.59T>C	CCDS1716.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.043096	0.93685	.	.	ENSG00000115137	ENST00000264711	T	0.79845	-1.31	6.03	6.03	0.97812	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89491	0.6730	M	0.88842	2.985	0.80722	D	1	P;P	0.47604	0.875;0.898	P;P	0.57204	0.719;0.815	D	0.91152	0.4954	10	0.87932	D	0	-25.1563	13.9314	0.63998	1.0:0.0:0.0:0.0	.	20;20	Q9NZQ0-3;Q9NZQ0	.;DJC27_HUMAN	T	20	ENSP00000264711:I20T	ENSP00000264711:I20T	I	-	2	0	DNAJC27	25048219	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.512000	0.73737	2.308000	0.77769	0.533000	0.62120	ATC		0.677	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246855.3	NM_016544		11	17	0	0	0	1	0	11	17					G	25194715	A	G	25194715	3	3	48	1	0	0	0	0	1	0	0	0	4647	333	12	4	790	4	DNAJC27	2	25194715	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	685543	25194715	218004658	463	4931										
POMC	5443	broad.mit.edu	37	chr2	25387575	25387575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggcaccagccacgcacttCcatggaggcctgaagcagca	11	15	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:25387575C>T	ENST00000405623.1	-	2	522	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	POMC_ENST00000395826.2_Missense_Mutation_p.E23K|POMC_ENST00000264708.3_Missense_Mutation_p.E23K|POMC_ENST00000380794.1_Missense_Mutation_p.E23K			P01189	COLI_HUMAN	proopiomelanocortin	23					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	CCACGCACTTCCATGGAGGCC	0.617																																					Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(67-69)Gaa>Aaa		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						61	61	61					2																	25387575		2203	4300	6503	SO:0001583	missense	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25387575C>T		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"Endogenous ligands"	9201	protein-coding gene	gene with protein product	"adrenocorticotropin", "beta-lipotropin", "alpha-melanocyte stimulating hormone", "beta-melanocyte stimulating hormone", "beta-endorphin", "adrenocorticotropic hormone", "opiomelanocortin prepropeptide"	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.67G>A	2.37:g.25387575C>T	ENSP00000384092:p.Glu23Lys		Somatic				POMC_ENST00000264708.3_Missense_Mutation_p.E23K|POMC_ENST00000395826.2_Missense_Mutation_p.E23K|POMC_ENST00000380794.1_Missense_Mutation_p.E23K	p.E23K			WXS	Illumina GAIIx	Phase_I	P01189	COLI_HUMAN			2	522	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		23					P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	ENST00000405623.1	37	c.67G>A	CCDS1717.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379953	0.61845	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.34	5.34	0.76211	.	0.303719	0.35525	N	0.003149	T	0.78078	0.4227	L	0.60455	1.87	0.36058	D	0.84123	P	0.40970	0.734	B	0.40329	0.326	D	0.84056	0.0372	10	0.56958	D	0.05	-16.9059	12.4297	0.55567	0.0:0.9177:0.0:0.0823	.	23	P01189	COLI_HUMAN	K	23	ENSP00000370171:E23K;ENSP00000384092:E23K;ENSP00000264708:E23K;ENSP00000379170:E23K;ENSP00000387993:E23K	ENSP00000264708:E23K	E	-	1	0	POMC	25241079	0.855000	0.29742	1.000000	0.80357	0.980000	0.70556	3.520000	0.53465	2.657000	0.90304	0.462000	0.41574	GAA		0.617	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		31	65	0	0	0	1	0	31	65					T	25387575	C	T	25387575	3	4	48	1	0	0	0	0	1	0	0	0	12251	864	30	3	744	3	POMC	2	25387575	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	192860	25387575	217811798	464	4932										
ASXL2	55252	broad.mit.edu	37	chr2	25966456	25966456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagctgctggcaaagtgctcGagggtggagctgatccagca	15	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:25966456G>A	ENST00000435504.4	-	13	3043	c.2750C>T	c.(2749-2751)tCg>tTg	p.S917L	ASXL2_ENST00000336112.4_Missense_Mutation_p.S889L|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	917					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)					CAAAGTGCTCGAGGGTGGAGC	0.473																																						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.(2749-2751)tCg>tTg		additional sex combs like 2 (Drosophila)							96	98	98					2																	25966456		1935	4140	6075	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25966456G>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2750C>T	2.37:g.25966456G>A	ENSP00000391447:p.Ser917Leu		Somatic				ASXL2_ENST00000336112.4_Missense_Mutation_p.S889L|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron	p.S917L			WXS	Illumina GAIIx	Phase_I	Q76L83	ASXL2_HUMAN			13	3043	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		917					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.2750C>T		.	.	.	.	.	.	.	.	.	.	G	5.905	0.351130	0.11182	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.19105	2.17;2.17	5.48	-1.03	0.10102	.	0.616054	0.17472	N	0.173070	T	0.11793	0.0287	N	0.21583	0.68	0.28419	N	0.917839	B	0.14438	0.01	B	0.08055	0.003	T	0.12167	-1.0558	10	0.87932	D	0	1.2149	6.5866	0.22624	0.4479:0.1174:0.4347:0.0	.	917	Q76L83	ASXL2_HUMAN	L	917;889	ENSP00000391447:S917L;ENSP00000337250:S889L	ENSP00000337250:S889L	S	-	2	0	ASXL2	25819960	0.001000	0.12720	0.031000	0.17742	0.839000	0.47603	-0.078000	0.11375	-0.544000	0.06232	-0.379000	0.06801	TCG		0.473	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		51	101	0	0	0	1	0	51	101					A	25966456	G	A	25966456	3	1	48	1	0	0	0	0	1	0	0	0	1067	1059	37	1	1561	1	ASXL2	2	25966456	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	578881	25966456	217232917	465	4933										
ASXL2	55252	broad.mit.edu	37	chr2	26022301	26022301	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctccttgttgctgccaccaTcactgctgctgctgctgttc	8	16	1	0	rs578025365		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:26022301T>C	ENST00000435504.4	-	5	649	c.356A>G	c.(355-357)gAt>gGt	p.D119G	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.D91G|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	119	Ser-rich.				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)					GCTGCCACCATCACTGCTGCT	0.478													T|||	1	0.000199681	0	0	5008	,	,		19362	0		0	False		,,,				2504	0.001					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.(355-357)gAt>gGt		additional sex combs like 2 (Drosophila)							205	203	204					2																	26022301		2064	4225	6289	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26022301T>C			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.356A>G	2.37:g.26022301T>C	ENSP00000391447:p.Asp119Gly		Somatic				ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.D91G|ASXL2_ENST00000272341.4_5'UTR	p.D119G			WXS	Illumina GAIIx	Phase_I	Q76L83	ASXL2_HUMAN			5	649	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		119			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.356A>G		.	.	.	.	.	.	.	.	.	.	T	13.81	2.349197	0.41599	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.19250	2.16;2.17	5.8	5.8	0.92144	.	0.213391	0.48767	D	0.000177	T	0.24392	0.0591	N	0.22421	0.69	0.80722	D	1	D	0.56968	0.978	P	0.55508	0.777	T	0.02661	-1.1127	10	0.87932	D	0	-22.4464	9.4712	0.38844	0.0:0.0793:0.0:0.9207	.	119	Q76L83	ASXL2_HUMAN	G	119;91	ENSP00000391447:D119G;ENSP00000337250:D91G	ENSP00000337250:D91G	D	-	2	0	ASXL2	25875805	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.506000	0.53364	2.214000	0.71695	0.374000	0.22700	GAT		0.478	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		13	90	0	0	0	1	0	13	90					C	26022301	T	C	26022301	3	2	48	1	0	0	0	0	1	0	0	0	1067	1435	50	4	3987	4	ASXL2	2	26022301	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	55845	26022301	217177072	466	4934										
C2orf39	92749	broad.mit.edu	37	chr2	26667759	26667759	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaacaatgttgggcctattTctcagcagccccagaagtcc	9	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:26667759T>C	ENST00000288710.2	+	10	1413	c.1339T>C	c.(1339-1341)Tct>Cct	p.S447P	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	447					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)											tgggcctatttctcAGCAGCC	0.527																																						ENST00000288710.2																			0											c.(1339-1341)Tct>Cct		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							80	70	73					2																	26667759		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26667759T>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.1339T>C	2.37:g.26667759T>C	ENSP00000288710:p.Ser447Pro		Somatic				DRC1_ENST00000483675.1_3'UTR	p.S447P	NM_145038.2	NP_659475.2	WXS	Illumina GAIIx	Phase_I					10	1413	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.1339T>C	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.094589	0.36952	.	.	ENSG00000157856	ENST00000288710	T	0.15718	2.4	5.17	5.17	0.71159	.	0.464650	0.22293	N	0.061965	T	0.28830	0.0715	M	0.76574	2.34	0.09310	N	0.999998	D	0.61080	0.989	P	0.54372	0.75	T	0.30268	-0.9984	10	0.40728	T	0.16	-5.0997	5.5067	0.16858	0.0:0.0888:0.1763:0.735	.	447	Q96MC2	CC164_HUMAN	P	447	ENSP00000288710:S447P	ENSP00000288710:S447P	S	+	1	0	CCDC164	26521263	0.888000	0.30383	0.349000	0.25694	0.257000	0.26127	3.302000	0.51849	1.941000	0.56285	0.383000	0.25322	TCT		0.527	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		6	42	0	0	0	1	0	6	42					C	26667759	T	C	26667759	3	2	48	1	0	0	0	0	1	0	0	0	2166	1783	62	4	1377	4	C2orf39	2	26667759	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	645458	26667759	216531614	467	4935										
KHK	3795	broad.mit.edu	37	chr2	27315234	27315234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatggcagcgcggaggcaacGcgtccaactcctgcaccgtt	13	14	0	0	rs104893644		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27315234G>A	ENST00000260599.6	+	2	640	c.127G>A	c.(127-129)Gcg>Acg	p.A43T	KHK_ENST00000260598.5_Missense_Mutation_p.A43T|KHK_ENST00000490823.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	43			A -> T (in FRUCT). {ECO:0000269|PubMed:7833921}.		carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGAGGCAACGCGTCCAACTC	0.612																																						ENST00000260599.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	GRCh37	CM940997	KHK	M	rs104893644	c.(127-129)Gcg>Acg		ketohexokinase (fructokinase)		G	THR/ALA,THR/ALA	0,4406		0,0,2203	86	73	78	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	127,127	5.5	1	2	dbSNP_132	78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KHK	NM_000221.2,NM_006488.2	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	43/299,43/299	27315234	1,13005	2203	4300	6503	SO:0001583	missense	3795				fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	g.chr2:27315234G>A		CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.127G>A	2.37:g.27315234G>A	ENSP00000260599:p.Ala43Thr		Somatic				KHK_ENST00000260598.5_Missense_Mutation_p.A43T|KHK_ENST00000490823.1_3'UTR	p.A43T	NM_000221.2	NP_000212.1	WXS	Illumina GAIIx	Phase_I	P50053	KHK_HUMAN			2	640	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		43		A -> T (in FRUCT).			Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	c.127G>A	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	G	35	5.506585	0.96386	0.0	1.16E-4	ENSG00000138030	ENST00000260599;ENST00000260598;ENST00000429697	T;T;T	0.68331	-0.32;-0.32;-0.32	5.5	5.5	0.81552	Carbohydrate/purine kinase (1);	0.000000	0.85682	D	0.000000	T	0.78604	0.4309	M	0.64630	1.985	0.80722	A	1	D;D;D	0.76494	0.999;0.995;0.999	D;P;D	0.63877	0.919;0.814;0.919	T	0.79933	-0.1594	9	0.54805	T	0.06	-8.0E-4	16.8828	0.86067	0.0:0.0:1.0:0.0	.	43;43;43	Q6IBK2;P50053-2;P50053	.;.;KHK_HUMAN	T	43	ENSP00000260599:A43T;ENSP00000260598:A43T;ENSP00000404741:A43T	ENSP00000260598:A43T	A	+	1	0	KHK	27168738	1.000000	0.71417	0.987000	0.45799	0.875000	0.50365	8.905000	0.92613	2.595000	0.87683	0.462000	0.41574	GCG		0.612	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			25	37	0	0	0	1	0	25	37					A	27315234	G	A	27315234	3	1	48	1	0	0	0	0	1	0	0	0	8158	1087	38	1	133	1	KHK	2	27315234	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	647475	27315234	215884139	468	4936										
CGREF1	10669	broad.mit.edu	37	chr2	27324190	27324190	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtgcacctcaaagtcattTtgggtgttcttagactccag	9	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27324190T>C	ENST00000260595.5	-	7	1150	c.858A>G	c.(856-858)caA>caG	p.Q286Q	CGREF1_ENST00000404694.3_Silent_p.Q425Q|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Silent_p.Q303Q|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000405600.1_Silent_p.Q303Q|CGREF1_ENST00000402394.1_Silent_p.Q303Q			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	286					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)					CAAAGTCATTTTGGGTGTTCT	0.532																																						ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(907-909)caA>caG		cell growth regulator with EF-hand domain 1							185	184	184					2																	27324190		2203	4300	6503	SO:0001819	synonymous_variant	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324190T>C	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.858A>G	2.37:g.27324190T>C			Somatic				CGREF1_ENST00000260595.5_Silent_p.Q286Q|CGREF1_ENST00000405600.1_Silent_p.Q303Q|CGREF1_ENST00000404694.3_Silent_p.Q425Q|CGREF1_ENST00000312734.4_Silent_p.Q303Q|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000452318.2_Intron	p.Q303Q	NM_006569.5	NP_006560.3	WXS	Illumina GAIIx	Phase_I	Q99674	CGRE1_HUMAN			6	1177	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		286					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Silent	SNP	ENST00000260595.5	37	c.909A>G																																																																																					0.532	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		69	139	0	0	0	1	0	69	139					C	27324190	T	C	27324190	2	2	48	1	0	0	0	0	0	0	0	1	3307	1838	64	4		4	CGREF1	2	27324190	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	8956	27324190	215875183	469	4937										
SLC5A6	8884	broad.mit.edu	37	chr2	27430447	27430447	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accacatagtccatgatggaGaaggtagacatgcccacgct	10	11	0	3	rs572871112		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27430447G>T	ENST00000310574.3	-	3	545	c.72C>A	c.(70-72)ttC>ttA	p.F24L	SLC5A6_ENST00000408041.1_Missense_Mutation_p.F24L	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	24					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CCATGATGGAGAAGGTAGACA	0.567													G|||	1	0.000199681	0	0	5008	,	,		22964	0		0	False		,,,				2504	0.001					ENST00000310574.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20						c.(70-72)ttC>ttA		solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	Biotin(DB00121)|Lipoic Acid(DB00166)						171	136	147					2																	27430447		2203	4300	6503	SO:0001583	missense	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27430447G>T	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.72C>A	2.37:g.27430447G>T	ENSP00000310208:p.Phe24Leu		Somatic				SLC5A6_ENST00000408041.1_Missense_Mutation_p.F24L	p.F24L	NM_021095.2	NP_066918.2	WXS	Illumina GAIIx	Phase_I	Q9Y289	SC5A6_HUMAN			3	545	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		24					B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	37	c.72C>A	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831473	0.71258	.	.	ENSG00000138074	ENST00000310574;ENST00000408041;ENST00000412471;ENST00000401463;ENST00000432106;ENST00000426119;ENST00000414408;ENST00000428518;ENST00000430186;ENST00000442731	T;T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96	4.87	2.1	0.27182	.	0.000000	0.85682	D	0.000000	T	0.22085	0.0532	M	0.72576	2.205	0.58432	D	0.999999	P	0.40250	0.709	B	0.38500	0.275	T	0.01966	-1.1238	10	0.52906	T	0.07	.	7.7941	0.29138	0.28:0.0:0.72:0.0	.	24	Q9Y289	SC5A6_HUMAN	L	24	ENSP00000310208:F24L;ENSP00000384853:F24L;ENSP00000403851:F24L;ENSP00000384265:F24L;ENSP00000411536:F24L;ENSP00000401347:F24L;ENSP00000404032:F24L;ENSP00000402903:F24L	ENSP00000310208:F24L	F	-	3	2	SLC5A6	27283951	1.000000	0.71417	0.754000	0.31244	0.008000	0.06430	5.329000	0.65892	0.262000	0.21774	-0.253000	0.11424	TTC		0.567	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		20	48	1	0	3.51602e-12	1	4.42195e-12	20	48					T	27430447	G	T	27430447	3	4	48	1	0	0	0	0	1	0	0	0	14684	933	33	2	1895	2	SLC5A6	2	27430447	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	106257	27430447	215768926	470	4938										
GTF3C2	2976	broad.mit.edu	37	chr2	27551727	27551727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcacccaaacggtgccttttCgaggagcagtgaagtaggcc	12	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27551727C>T	ENST00000359541.2	-	15	2540	c.2111G>A	c.(2110-2112)cGa>cAa	p.R704Q	GTF3C2_ENST00000264720.3_Missense_Mutation_p.R704Q			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	704					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)					GGTGCCTTTTCGAGGAGCAGT	0.403																																						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.(2110-2112)cGa>cAa		general transcription factor IIIC, polypeptide 2, beta 110kDa							63	63	63					2																	27551727		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27551727C>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.2111G>A	2.37:g.27551727C>T	ENSP00000352536:p.Arg704Gln		Somatic				GTF3C2_ENST00000264720.3_Missense_Mutation_p.R704Q	p.R704Q			WXS	Illumina GAIIx	Phase_I	Q8WUA4	TF3C2_HUMAN			15	2540	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		704					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.2111G>A	CCDS1749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.015702|4.015702	0.75161|0.75161	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000454704;ENST00000415683|ENST00000359541;ENST00000264720	.|T;T	.|0.73469	.|-0.75;-0.75	5.5|5.5	5.5|5.5	0.81552|0.81552	.|WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77356|0.77356	0.4118|0.4118	L|L	0.27053|0.27053	0.805|0.805	0.48571|0.48571	D|D	0.999679|0.999679	.|D	.|0.89917	.|1.0	.|D	.|0.66497	.|0.944	T|T	0.73839|0.73839	-0.3856|-0.3856	5|10	.|0.27082	.|T	.|0.32	-8.4625|-8.4625	17.2462|17.2462	0.87029|0.87029	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|704	.|Q8WUA4	.|TF3C2_HUMAN	K|Q	213;106|704	.|ENSP00000352536:R704Q;ENSP00000264720:R704Q	.|ENSP00000264720:R704Q	E|R	-|-	1|2	0|0	GTF3C2|GTF3C2	27405231|27405231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.800000|0.800000	0.45204|0.45204	6.682000|6.682000	0.74528|0.74528	2.758000|2.758000	0.94735|0.94735	0.561000|0.561000	0.74099|0.74099	GAA|CGA		0.403	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			13	26	0	0	0	1	0	13	26					T	27551727	C	T	27551727	3	4	48	1	0	0	0	0	1	0	0	0	6882	884	31	1	644	1	GTF3C2	2	27551727	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	121280	27551727	215647646	471	4939										
GTF3C2	2976	broad.mit.edu	37	chr2	27565787	27565787	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agattctggccgatctaggtCttttgacaacttcagcagca	9	10	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27565787C>A	ENST00000359541.2	-	3	904	c.475G>T	c.(475-477)Gac>Tac	p.D159Y	AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000589232.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.D159Y			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	159					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)					CGATCTAGGTCTTTTGACAAC	0.552																																						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.(475-477)Gac>Tac		general transcription factor IIIC, polypeptide 2, beta 110kDa							82	83	82					2																	27565787		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27565787C>A	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.475G>T	2.37:g.27565787C>A	ENSP00000352536:p.Asp159Tyr		Somatic				GTF3C2_ENST00000264720.3_Missense_Mutation_p.D159Y	p.D159Y			WXS	Illumina GAIIx	Phase_I	Q8WUA4	TF3C2_HUMAN			3	904	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		159					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.475G>T	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067580	0.55539	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	T;T	0.73047	-0.71;-0.71	5.31	5.31	0.75309	.	0.387817	0.24578	N	0.037333	T	0.61123	0.2322	N	0.08118	0	0.34412	D	0.696453	P;B;P	0.42649	0.786;0.34;0.786	P;B;B	0.47251	0.542;0.172;0.413	T	0.73924	-0.3829	10	0.62326	D	0.03	-0.2658	16.5206	0.84315	0.0:1.0:0.0:0.0	.	159;159;159	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	Y	159	ENSP00000352536:D159Y;ENSP00000264720:D159Y	ENSP00000264720:D159Y	D	-	1	0	GTF3C2	27419291	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.467000	0.60155	2.763000	0.94921	0.563000	0.77884	GAC		0.552	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			33	51	1	0	1.99505e-19	1	2.71627e-19	33	51					A	27565787	C	A	27565787	3	1	48	1	0	0	0	0	1	0	0	0	6882	913	32	2	2328	2	GTF3C2	2	27565787	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	14060	27565787	215633586	472	4940										
IFT172	26160	broad.mit.edu	37	chr2	27700448	27700448	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctcattttcaaagaaatacTtctcattgccaccagatcct	3	12	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27700448T>G	ENST00000260570.3	-	12	1302	c.1199A>C	c.(1198-1200)aAg>aCg	p.K400T	IFT172_ENST00000359466.6_Missense_Mutation_p.K400T|IFT172_ENST00000416524.2_Missense_Mutation_p.K379T|RNU6-986P_ENST00000363133.1_RNA	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	400					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)					AAAGAAATACTTCTCATTGCC	0.403																																						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.(1198-1200)aAg>aCg		intraflagellar transport 172 homolog (Chlamydomonas)							112	103	106					2																	27700448		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27700448T>G	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.1199A>C	2.37:g.27700448T>G	ENSP00000260570:p.Lys400Thr		Somatic				IFT172_ENST00000359466.6_Missense_Mutation_p.K400T|IFT172_ENST00000416524.2_Missense_Mutation_p.K379T	p.K400T	NM_015662.1	NP_056477.1	WXS	Illumina GAIIx	Phase_I	Q9UG01	IF172_HUMAN			12	1302	-	Acute lymphoblastic leukemia(172;0.155)		400					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.1199A>C	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774258	0.90108	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;D;D	0.95853	3.48;-3.83;-3.83	5.85	5.85	0.93711	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.97766	0.9267	M	0.88031	2.925	0.80722	D	1	D;P;D;P	0.62365	0.983;0.858;0.991;0.524	D;P;P;P	0.63793	0.918;0.71;0.887;0.502	D	0.98537	1.0630	10	0.87932	D	0	-22.3492	15.0523	0.71885	0.0:0.0:0.0:1.0	.	400;400;374;400	A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;IF172_HUMAN	T	400;400;379	ENSP00000260570:K400T;ENSP00000352443:K400T;ENSP00000407408:K379T	ENSP00000260570:K400T	K	-	2	0	IFT172	27553952	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.455000	0.73497	2.234000	0.73211	0.528000	0.53228	AAG		0.403	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		16	30	0	0	0	1	0	16	30					G	27700448	T	G	27700448	3	3	48	1	0	0	0	0	1	0	0	0	7566	1609	56	4	4198	4	IFT172	2	27700448	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	134661	27700448	215498925	473	4941										
IFT172	26160	broad.mit.edu	37	chr2	27708255	27708255	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagctggtttggtggagaatTtatctctccgttctccatgt	10	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27708255T>G	ENST00000260570.3	-	2	258	c.155A>C	c.(154-156)aAa>aCa	p.K52T	IFT172_ENST00000359466.6_Missense_Mutation_p.K52T|IFT172_ENST00000416524.2_Missense_Mutation_p.K31T	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	52					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)					GGTGGAGAATTTATCTCTCCG	0.453																																						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.(154-156)aAa>aCa		intraflagellar transport 172 homolog (Chlamydomonas)							220	193	202					2																	27708255		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27708255T>G	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.155A>C	2.37:g.27708255T>G	ENSP00000260570:p.Lys52Thr		Somatic				IFT172_ENST00000359466.6_Missense_Mutation_p.K52T|IFT172_ENST00000416524.2_Missense_Mutation_p.K31T	p.K52T	NM_015662.1	NP_056477.1	WXS	Illumina GAIIx	Phase_I	Q9UG01	IF172_HUMAN			2	258	-	Acute lymphoblastic leukemia(172;0.155)		52					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.155A>C	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347725	0.82022	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;T	0.52754	0.65;1.59	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.046773	0.85682	D	0.000000	T	0.62600	0.2441	L	0.50993	1.605	0.58432	D	0.999996	D;D;D;D;D	0.69078	0.982;0.991;0.96;0.991;0.997	P;D;P;D;D	0.69479	0.637;0.938;0.785;0.938;0.964	T	0.65393	-0.6179	10	0.87932	D	0	-16.4288	14.8417	0.70230	0.0:0.0:0.0:1.0	.	52;52;52;52;52	B4E3C1;A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;.;IF172_HUMAN	T	52;52;31	ENSP00000260570:K52T;ENSP00000407408:K31T	ENSP00000260570:K52T	K	-	2	0	IFT172	27561759	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.304000	0.65744	2.185000	0.69588	0.455000	0.32223	AAA		0.453	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		49	66	0	0	0	1	0	49	66					G	27708255	T	G	27708255	3	3	48	1	0	0	0	0	1	0	0	0	7566	1841	64	4	5282	4	IFT172	2	27708255	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	7807	27708255	215491118	474	4942										
FNDC4	64838	broad.mit.edu	37	chr2	27716803	27716803	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcacagatcctcacctgggcTtgaactgtttgaaggtagcc	11	11	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27716803T>G	ENST00000264703.3	-	4	839	c.448A>C	c.(448-450)Agc>Cgc	p.S150R	GCKR_ENST00000264717.2_5'Flank|GCKR_ENST00000424318.2_5'Flank	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	150						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					TCACCTGGGCTTGAACTGTTT	0.562																																						ENST00000264703.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9						c.(448-450)Agc>Cgc		fibronectin type III domain containing 4							70	75	73					2																	27716803		2203	4300	6503	SO:0001583	missense	64838					integral to membrane		g.chr2:27716803T>G	AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"Fibronectin type III domain containing"	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787	ENST00000264703.3:c.448A>C	2.37:g.27716803T>G	ENSP00000264703:p.Ser150Arg		Somatic					p.S150R	NM_022823.2	NP_073734.1	WXS	Illumina GAIIx	Phase_I	Q9H6D8	FNDC4_HUMAN			4	839	-	Acute lymphoblastic leukemia(172;0.155)		150					D6W560	Missense_Mutation	SNP	ENST00000264703.3	37	c.448A>C	CCDS1756.1	.	.	.	.	.	.	.	.	.	.	T	6.657	0.489652	0.12702	.	.	ENSG00000115226	ENST00000264703	T	0.07327	3.2	5.46	4.31	0.51392	.	0.041457	0.85682	D	0.000000	T	0.04497	0.0123	N	0.08118	0	0.35496	D	0.799407	B	0.28128	0.201	B	0.21360	0.034	T	0.37291	-0.9712	10	0.46703	T	0.11	-30.2287	10.4092	0.44282	0.0:0.0781:0.0:0.9219	.	150	Q9H6D8	FNDC4_HUMAN	R	150	ENSP00000264703:S150R	ENSP00000264703:S150R	S	-	1	0	FNDC4	27570307	1.000000	0.71417	0.982000	0.44146	0.428000	0.31595	4.328000	0.59253	0.899000	0.36444	-0.400000	0.06385	AGC		0.562	FNDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215031.1	NM_022823		23	54	0	0	0	1	0	23	54					G	27716803	T	G	27716803	3	3	48	1	0	0	0	0	1	0	0	0	5979	1609	56	4	272	4	FNDC4	2	27716803	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	8548	27716803	215482570	475	4943										
GCKR	2646	broad.mit.edu	37	chr2	27728635	27728635	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaggtggaagtgccaccaaGattctgctggaaaccctgtt	11	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27728635G>T	ENST00000264717.2	+	10	864	c.801G>T	c.(799-801)aaG>aaT	p.K267N	GCKR_ENST00000424318.2_Missense_Mutation_p.K77N	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	267	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GTGCCACCAAGATTCTGCTGG	0.542																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(799-801)aaG>aaT		glucokinase (hexokinase 4) regulator							99	90	93					2																	27728635		2203	4300	6503	SO:0001583	missense	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27728635G>T	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"glucokinase (hexokinase 4) regulatory protein"			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.801G>T	2.37:g.27728635G>T	ENSP00000264717:p.Lys267Asn		Somatic				GCKR_ENST00000424318.2_Missense_Mutation_p.K77N	p.K267N	NM_001486.3	NP_001477.2	WXS	Illumina GAIIx	Phase_I	Q14397	GCKR_HUMAN			10	864	+	Acute lymphoblastic leukemia(172;0.155)		267			SIS 1.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	c.801G>T	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664640	0.47572	.	.	ENSG00000084734	ENST00000264717;ENST00000424318	D;T	0.84442	-1.85;-0.11	3.88	2.99	0.34606	Glucokinase regulatory, conserved site (1);Sugar isomerase (SIS) (1);	0.144429	0.44483	N	0.000454	D	0.89118	0.6624	M	0.80422	2.495	0.32346	N	0.559159	P;P;P	0.51240	0.933;0.916;0.943	P;P;P	0.54100	0.557;0.455;0.742	D	0.91020	0.4856	10	0.87932	D	0	-7.4494	11.3723	0.49707	0.0:0.1855:0.8145:0.0	.	77;267;267	F5H1P6;A8K731;Q14397	.;.;GCKR_HUMAN	N	267;77	ENSP00000264717:K267N;ENSP00000409109:K77N	ENSP00000264717:K267N	K	+	3	2	GCKR	27582139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.485000	0.35519	0.958000	0.37956	0.655000	0.94253	AAG		0.542	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		34	67	1	0	9.78485e-24	1	1.37003e-23	34	67					T	27728635	G	T	27728635	3	4	48	1	0	0	0	0	1	0	0	0	6302	933	33	2	839	2	GCKR	2	27728635	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	11832	27728635	215470738	476	4944										
FOSL2	2355	broad.mit.edu	37	chr2	28626994	28626994	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaattccgggtagatatgccTggctcaggcagtgcattcat	11	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:28626994T>C	ENST00000264716.4	+	2	986	c.123T>C	c.(121-123)ccT>ccC	p.P41P	FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000379619.1_Silent_p.P16P|FOSL2_ENST00000545753.1_Silent_p.P2P	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	41					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TAGATATGCCTGGCTCAGGCA	0.463																																						ENST00000264716.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(121-123)ccT>ccC		FOS-like antigen 2							117	112	114					2																	28626994		2203	4300	6503	SO:0001819	synonymous_variant	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28626994T>C		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"basic leucine zipper proteins"	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.123T>C	2.37:g.28626994T>C			Somatic				FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000545753.1_Silent_p.P2P|FOSL2_ENST00000379619.1_Silent_p.P16P	p.P41P	NM_005253.3	NP_005244.1	WXS	Illumina GAIIx	Phase_I	P15408	FOSL2_HUMAN			2	986	+	Acute lymphoblastic leukemia(172;0.155)		41					B2RD58|B3KP27|B4DYV4|Q6FG46	Silent	SNP	ENST00000264716.4	37	c.123T>C	CCDS1766.1																																																																																				0.463	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		9	103	0	0	0	1	0	9	103					C	28626994	T	C	28626994	2	2	48	1	0	0	0	0	0	0	0	1	5996	1567	55	4		4	FOSL2	2	28626994	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	898359	28626994	214572379	477	4945										
PPP1CB	5500	broad.mit.edu	37	chr2	29001835	29001835	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tataaaatcaaatatccagaGaacttctttctcttaagagg	5	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:29001835G>T	ENST00000395366.2	+	3	617	c.345G>T	c.(343-345)gaG>gaT	p.E115D	PPP1CB_ENST00000296122.6_Missense_Mutation_p.E115D|PPP1CB_ENST00000358506.2_Missense_Mutation_p.E115D	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	115					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|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)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AATATCCAGAGAACTTCTTTC	0.343																																						ENST00000395366.2																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(343-345)gaG>gaT		protein phosphatase 1, catalytic subunit, beta isozyme							80	83	82					2																	29001835		2203	4300	6503	SO:0001583	missense	5500				cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding	g.chr2:29001835G>T		CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9282	protein-coding gene	gene with protein product		600590	"protein phosphatase 1, catalytic subunit, beta isoform"			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.345G>T	2.37:g.29001835G>T	ENSP00000378769:p.Glu115Asp		Somatic				PPP1CB_ENST00000296122.6_Missense_Mutation_p.E115D|PPP1CB_ENST00000358506.2_Missense_Mutation_p.E115D	p.E115D	NM_002709.2	NP_002700.1	WXS	Illumina GAIIx	Phase_I	P62140	PP1B_HUMAN			3	617	+	Acute lymphoblastic leukemia(172;0.155)		115					B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Missense_Mutation	SNP	ENST00000395366.2	37	c.345G>T	CCDS33169.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372157	0.82573	.	.	ENSG00000213639	ENST00000455580;ENST00000420282;ENST00000441461;ENST00000358506;ENST00000296122;ENST00000395366	T;D;D;T;T;T	0.84442	3.54;-1.85;-1.85;3.54;3.54;3.54	5.72	4.84	0.62591	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.74207	0.3686	N	0.12443	0.215	0.46654	D	0.999145	B;B	0.10296	0.003;0.0	B;B	0.17098	0.017;0.006	T	0.71377	-0.4611	10	0.87932	D	0	-15.4495	12.9649	0.58478	0.1345:0.0:0.8655:0.0	.	87;115	B4E163;P62140	.;PP1B_HUMAN	D	87;115;115;115;115;115	ENSP00000390715:E87D;ENSP00000398839:E115D;ENSP00000414918:E115D;ENSP00000351298:E115D;ENSP00000296122:E115D;ENSP00000378769:E115D	ENSP00000296122:E115D	E	+	3	2	PPP1CB	28855339	0.830000	0.29337	1.000000	0.80357	0.999000	0.98932	-0.048000	0.11944	1.562000	0.49601	0.650000	0.86243	GAG		0.343	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324841.1			14	30	1	0	4.3838e-07	1	4.998e-07	14	30					T	29001835	G	T	29001835	3	4	48	1	0	0	0	0	1	0	0	0	12362	933	33	2	355	2	PPP1CB	2	29001835	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	374841	29001835	214197538	478	4946										
C2orf71	388939	broad.mit.edu	37	chr2	29294728	29294728	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggggaaagataggtgctaaGggcttccagcctatgcccat	14	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:29294728G>T	ENST00000331664.5	-	1	2399	c.2400C>A	c.(2398-2400)ccC>ccA	p.P800P		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	800					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						TAGGTGCTAAGGGCTTCCAGC	0.542																																						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.(2398-2400)ccC>ccA		chromosome 2 open reading frame 71							74	75	75					2																	29294728		1962	4168	6130	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29294728G>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.2400C>A	2.37:g.29294728G>T			Somatic					p.P800P	NM_001029883.2	NP_001025054.1	WXS	Illumina GAIIx	Phase_I	A6NGG8	CB071_HUMAN			1	2399	-			800						Silent	SNP	ENST00000331664.5	37	c.2400C>A	CCDS42669.1																																																																																				0.542	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		37	71	1	0	4.65686e-17	1	6.22576e-17	37	71					T	29294728	G	T	29294728	2	4	48	1	0	0	0	0	0	0	0	1	2193	987	35	5		5	C2orf71	2	29294728	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	292893	29294728	213904645	479	4947										
CAPN13	92291	broad.mit.edu	37	chr2	30957322	30957322	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtccccattgtacctgtattCtctatggccttccacaagtc	6	14	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:30957322C>A	ENST00000295055.8	-	19	1967	c.1791G>T	c.(1789-1791)gaG>gaT	p.E597D	CAPN13_ENST00000534090.2_Missense_Mutation_p.E597D	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	597					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)					TACCTGTATTCTCTATGGCCT	0.552																																						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.(1789-1791)gaG>gaT		calpain 13							84	91	89					2																	30957322		1893	4123	6016	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30957322C>A		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.1791G>T	2.37:g.30957322C>A	ENSP00000295055:p.Glu597Asp		Somatic				CAPN13_ENST00000534090.2_Missense_Mutation_p.E597D	p.E597D	NM_144575.2	NP_653176.2	WXS	Illumina GAIIx	Phase_I	Q6MZZ7	CAN13_HUMAN			19	1967	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		597					Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.1791G>T	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	C	2.689	-0.273618	0.05679	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.30981	1.51;1.51	4.84	-3.06	0.05379	EF-hand-like domain (1);	1.035960	0.07574	N	0.919032	T	0.17408	0.0418	L	0.38953	1.18	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31668	-0.9935	10	0.30078	T	0.28	.	0.3154	0.00294	0.2786:0.2387:0.1362:0.3464	.	597	Q6MZZ7	CAN13_HUMAN	D	597	ENSP00000295055:E597D;ENSP00000431298:E597D	ENSP00000295055:E597D	E	-	3	2	CAPN13	30810826	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	-0.649000	0.05384	-0.265000	0.09352	-0.493000	0.04662	GAG		0.552	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		12	19	1	0	3.07112e-06	1	3.42433e-06	12	19					A	30957322	C	A	30957322	3	1	48	1	0	0	0	0	1	0	0	0	2628	912	32	2	234	2	CAPN13	2	30957322	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1662594	30957322	212242051	480	4948										
NLRC4	58484	broad.mit.edu	37	chr2	32449775	32449775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccatccatcactgctcacacGatttcccgccaaattcaact	3	17	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:32449775G>A	ENST00000404025.2	-	10	3330	c.2842C>T	c.(2842-2844)Cgt>Tgt	p.R948C	NLRC4_ENST00000360906.5_Missense_Mutation_p.R948C|NLRC4_ENST00000402280.1_Missense_Mutation_p.R948C|NLRC4_ENST00000342905.6_Missense_Mutation_p.R283C			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	948					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)					CTGCTCACACGATTTCCCGCC	0.363																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(2842-2844)Cgt>Tgt		NLR family, CARD domain containing 4							66	68	67					2																	32449775		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.chr2:32449775G>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2842C>T	2.37:g.32449775G>A	ENSP00000385090:p.Arg948Cys		Somatic				NLRC4_ENST00000360906.5_Missense_Mutation_p.R948C|NLRC4_ENST00000402280.1_Missense_Mutation_p.R948C|NLRC4_ENST00000342905.6_Missense_Mutation_p.R283C	p.R948C			WXS	Illumina GAIIx	Phase_I	Q9NPP4	NLRC4_HUMAN			10	3330	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		948					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.2842C>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	7.503	0.653146	0.14580	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	4.58	0.752	0.18398	.	0.606546	0.13782	N	0.363171	T	0.20495	0.0493	N	0.01576	-0.805	0.22412	N	0.999122	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13282	-1.0515	9	0.36615	T	0.2	-0.9138	4.5937	0.12319	0.6558:0.1641:0.1801:0.0	.	283;948	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	C	948;948;283;948	ENSP00000354159:R948C;ENSP00000385428:R948C;ENSP00000339666:R283C;ENSP00000385090:R948C	ENSP00000339666:R283C	R	-	1	0	NLRC4	32303279	0.790000	0.28787	0.259000	0.24435	0.302000	0.27658	0.697000	0.25556	-0.008000	0.14320	-0.946000	0.02672	CGT		0.363	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		19	42	0	0	0	1	0	19	42					A	32449775	G	A	32449775	3	1	48	1	0	0	0	0	1	0	0	0	10478	1058	37	1	236	1	NLRC4	2	32449775	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1492453	32449775	210749598	481	4949										
NLRC4	58484	broad.mit.edu	37	chr2	32475335	32475335	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtttttcacactttgcaaaGattcctgtctccagagaggc	8	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:32475335G>T	ENST00000404025.2	-	5	2086	c.1598C>A	c.(1597-1599)tCt>tAt	p.S533Y	NLRC4_ENST00000360906.5_Missense_Mutation_p.S533Y|NLRC4_ENST00000402280.1_Missense_Mutation_p.S533Y|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	533					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)					ACTTTGCAAAGATTCCTGTCT	0.463																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(1597-1599)tCt>tAt		NLR family, CARD domain containing 4							120	113	116					2																	32475335		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.chr2:32475335G>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.1598C>A	2.37:g.32475335G>T	ENSP00000385090:p.Ser533Tyr		Somatic				NLRC4_ENST00000360906.5_Missense_Mutation_p.S533Y|NLRC4_ENST00000402280.1_Missense_Mutation_p.S533Y|NLRC4_ENST00000342905.6_Intron	p.S533Y			WXS	Illumina GAIIx	Phase_I	Q9NPP4	NLRC4_HUMAN			5	2086	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		533					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.1598C>A	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	6.216	0.408055	0.11754	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.55234	0.53;0.53;0.53	2.82	2.82	0.32997	.	1.150840	0.06771	N	0.783555	T	0.35008	0.0917	L	0.27053	0.805	0.33202	D	0.552282	P	0.40476	0.718	B	0.33750	0.169	T	0.30621	-0.9972	9	0.37606	T	0.19	.	5.7746	0.18271	0.1467:0.0:0.8533:0.0	.	533	Q9NPP4	NLRC4_HUMAN	Y	533	ENSP00000354159:S533Y;ENSP00000385428:S533Y;ENSP00000385090:S533Y	ENSP00000354159:S533Y	S	-	2	0	NLRC4	32328839	0.804000	0.28969	0.006000	0.13384	0.004000	0.04260	1.959000	0.40412	1.923000	0.55706	0.543000	0.68304	TCT		0.463	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		26	44	1	0	8.24728e-16	1	1.09065e-15	26	44					T	32475335	G	T	32475335	3	4	48	1	0	0	0	0	1	0	0	0	10478	942	33	2	1500	2	NLRC4	2	32475335	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	25560	32475335	210724038	482	4950										
NLRC4	58484	broad.mit.edu	37	chr2	32476392	32476392	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccccagagcatggcaattcGctgcagcagagtggacttgc	13	12	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:32476392G>A	ENST00000404025.2	-	5	1029	c.541C>T	c.(541-543)Cga>Tga	p.R181*	NLRC4_ENST00000360906.5_Nonsense_Mutation_p.R181*|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.R181*|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	181	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATGGCAATTCGCTGCAGCAGA	0.572																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(541-543)Cga>Tga		NLR family, CARD domain containing 4							71	70	70					2																	32476392		2203	4300	6503	SO:0001587	stop_gained	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.chr2:32476392G>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.541C>T	2.37:g.32476392G>A	ENSP00000385090:p.Arg181*		Somatic				NLRC4_ENST00000360906.5_Nonsense_Mutation_p.R181*|NLRC4_ENST00000402280.1_Nonsense_Mutation_p.R181*|NLRC4_ENST00000342905.6_Intron	p.R181*			WXS	Illumina GAIIx	Phase_I	Q9NPP4	NLRC4_HUMAN			5	1029	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		181			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Nonsense_Mutation	SNP	ENST00000404025.2	37	c.541C>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	36	5.699330	0.96802	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	.	.	.	3.27	0.992	0.19819	.	0.323716	0.19190	N	0.120451	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-1.3178	9.4052	0.38457	0.0:0.0:0.2801:0.7198	.	.	.	.	X	181	.	ENSP00000354159:R181X	R	-	1	2	NLRC4	32329896	1.000000	0.71417	0.992000	0.48379	0.934000	0.57294	1.087000	0.30865	0.610000	0.30035	0.543000	0.68304	CGA		0.572	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		25	51	0	0	0	1	0	25	51					A	32476392	G	A	32476392	4	1	48	1	0	0	0	0	0	1	0	0	10478	1095	38	1	2557	1	NLRC4	2	32476392	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1057	32476392	210722981	483	4951										
BIRC6	57448	broad.mit.edu	37	chr2	32640478	32640478	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctccggattctgagaagtggAactctgtgtttcccaagcct	10	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:32640478A>G	ENST00000421745.2	+	10	2253	c.2119A>G	c.(2119-2121)Aac>Gac	p.N707D		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	707					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)					TGAGAAGTGGAACTCTGTGTT	0.473																																					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.(2119-2121)Aac>Gac		baculoviral IAP repeat containing 6							77	73	74					2																	32640478		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32640478A>G	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.2119A>G	2.37:g.32640478A>G	ENSP00000393596:p.Asn707Asp		Somatic					p.N707D	NM_016252.3	NP_057336.3	WXS	Illumina GAIIx	Phase_I	Q9NR09	BIRC6_HUMAN			10	2253	+	Acute lymphoblastic leukemia(172;0.155)		707					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.2119A>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	10.55	1.380651	0.24944	.	.	ENSG00000115760	ENST00000421745	T	0.74526	-0.85	5.65	4.5	0.54988	.	0.333181	0.34802	N	0.003672	T	0.53384	0.1793	N	0.08118	0	0.32387	N	0.553777	B	0.16166	0.016	B	0.16722	0.016	T	0.55373	-0.8151	10	0.23891	T	0.37	.	11.5587	0.50764	0.9303:0.0:0.0697:0.0	.	707	Q9NR09	BIRC6_HUMAN	D	707	ENSP00000393596:N707D	ENSP00000393596:N707D	N	+	1	0	BIRC6	32493982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.072000	0.71238	1.086000	0.41228	0.528000	0.53228	AAC		0.473	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		16	21	0	0	0	1	0	16	21					G	32640478	A	G	32640478	3	3	48	1	0	0	0	0	1	0	0	0	1438	246	9	4	2157	4	BIRC6	2	32640478	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	164086	32640478	210558895	484	4952										
LTBP1	4052	broad.mit.edu	37	chr2	33413754	33413754	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caacaggccagaagacaaaaGaagctcaaccaggccaatcc	8	13	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:33413754G>T	ENST00000404816.2	+	7	1890	c.1537G>T	c.(1537-1539)Gaa>Taa	p.E513*	LTBP1_ENST00000402934.1_Nonsense_Mutation_p.E187*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.E187*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.E513*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.E187*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.E187*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.E187*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	513					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)				GAAGACAAAAGAAGCTCAACC	0.483																																						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.(1537-1539)Gaa>Taa		latent transforming growth factor beta binding protein 1							113	104	107					2																	33413754		2203	4300	6503	SO:0001587	stop_gained	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.chr2:33413754G>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.1537G>T	2.37:g.33413754G>T	ENSP00000386043:p.Glu513*		Somatic				LTBP1_ENST00000404525.1_Nonsense_Mutation_p.E187*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.E187*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.E187*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.E513*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.E187*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.E187*	p.E513*			WXS	Illumina GAIIx	Phase_I	Q14766	LTBP1_HUMAN			7	1890	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	513					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Nonsense_Mutation	SNP	ENST00000404816.2	37	c.1537G>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624025	0.87560	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.1667	0.81768	0.0:0.1331:0.8669:0.0	.	.	.	.	X	513;513;187;187;187;187;187	.	ENSP00000346467:E513X	E	+	1	0	LTBP1	33267258	1.000000	0.71417	0.986000	0.45419	0.980000	0.70556	3.810000	0.55613	2.719000	0.93026	0.556000	0.70494	GAA		0.483	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		37	60	1	0	1.26612e-14	1	1.65413e-14	37	60					T	33413754	G	T	33413754	4	4	48	1	0	0	0	0	0	1	0	0	9082	943	33	2	1618	2	LTBP1	2	33413754	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	773276	33413754	209785619	485	4953										
CRIM1	51232	broad.mit.edu	37	chr2	36744477	36744477	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtcatttcccagatgacttTgtggtgcagaagccagagct	11	9	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:36744477T>A	ENST00000280527.2	+	12	2365	c.1998T>A	c.(1996-1998)ttT>ttA	p.F666L		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	666					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CAGATGACTTTGTGGTGCAGA	0.458																																						ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1996-1998)ttT>ttA		cysteine rich transmembrane BMP regulator 1 (chordin-like)							85	78	80					2																	36744477		2203	4300	6503	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36744477T>A	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1998T>A	2.37:g.36744477T>A	ENSP00000280527:p.Phe666Leu		Somatic					p.F666L	NM_016441.2	NP_057525.1	WXS	Illumina GAIIx	Phase_I	Q9NZV1	CRIM1_HUMAN			12	2365	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	666					Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.1998T>A	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	T	5.881	0.346687	0.11126	.	.	ENSG00000150938	ENST00000280527;ENST00000413985	T;T	0.63096	-0.02;-0.02	5.56	-7.43	0.01383	.	0.353337	0.30501	N	0.009488	T	0.16342	0.0393	N	0.00368	-1.59	0.18873	N	0.999985	B	0.02656	0.0	B	0.04013	0.001	T	0.46428	-0.9192	10	0.11485	T	0.65	-9.4133	8.4972	0.33136	0.1088:0.5752:0.1019:0.2141	.	666	Q9NZV1	CRIM1_HUMAN	L	666;28	ENSP00000280527:F666L;ENSP00000403120:F28L	ENSP00000280527:F666L	F	+	3	2	CRIM1	36597981	0.006000	0.16342	0.881000	0.34555	0.957000	0.61999	-1.485000	0.02314	-1.293000	0.02362	-0.904000	0.02843	TTT		0.458	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		26	37	0	0	0	1	0	26	37					A	36744477	T	A	36744477	3	1	48	1	0	0	0	0	1	0	0	0	3875	1809	63	4	2044	4	CRIM1	2	36744477	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	3330723	36744477	206454896	486	4954										
STRN	6801	broad.mit.edu	37	chr2	37121137	37121137	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagagcttcttttgtatctcGatcttcaccgctgtcaggca	8	11	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37121137G>A	ENST00000263918.4	-	7	843	c.835C>T	c.(835-837)Cga>Tga	p.R279*	STRN_ENST00000379213.2_Nonsense_Mutation_p.R267*	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	279					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTTGTATCTCGATCTTCACCG	0.383																																						ENST00000263918.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(835-837)Cga>Tga		striatin, calmodulin binding protein							155	135	142					2																	37121137		2203	4300	6503	SO:0001587	stop_gained	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37121137G>A	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.835C>T	2.37:g.37121137G>A	ENSP00000263918:p.Arg279*		Somatic				STRN_ENST00000379213.2_Nonsense_Mutation_p.R267*	p.R279*	NM_003162.3	NP_003153.2	WXS	Illumina GAIIx	Phase_I	O43815	STRN_HUMAN			7	843	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	279					Q3KP65|Q53TQ8|Q9NP38	Nonsense_Mutation	SNP	ENST00000263918.4	37	c.835C>T	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	G	36	5.759081	0.96898	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	.	.	.	5.72	1.64	0.23874	.	0.138166	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-7.6535	5.2391	0.15462	0.1678:0.0:0.353:0.4792	.	.	.	.	X	279;254;267	.	ENSP00000263918:R279X	R	-	1	2	STRN	36974641	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	2.842000	0.48230	0.320000	0.23234	0.655000	0.94253	CGA		0.383	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			8	61	0	0	0	1	0	8	61					A	37121137	G	A	37121137	4	1	48	1	0	0	0	0	0	1	0	0	15344	1066	37	1	1555	1	STRN	2	37121137	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	376660	37121137	206078236	487	4955										
HEATR5B	54497	broad.mit.edu	37	chr2	37235920	37235920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccacagtcgtcatcatcatcGtcagtatttttaattgctct	5	11	5	0	rs199872653		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37235920G>A	ENST00000233099.5	-	28	4451	c.4356C>T	c.(4354-4356)gaC>gaT	p.D1452D	HEATR5B_ENST00000354531.2_Silent_p.D1452D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1452						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)				CATCATCATCGTCAGTATTTT	0.378																																						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.(4354-4356)gaC>gaT		HEAT repeat containing 5B		G		0,4406		0,0,2203	306	265	279		4356	-1.1	1	2		279	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HEATR5B	NM_019024.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1452/2072	37235920	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37235920G>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.4356C>T	2.37:g.37235920G>A			Somatic				HEATR5B_ENST00000354531.2_Silent_p.D1452D	p.D1452D	NM_019024.1	NP_061897.1	WXS	Illumina GAIIx	Phase_I	Q9P2D3	HTR5B_HUMAN			28	4451	-		all_hematologic(82;0.21)	1452					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.4356C>T	CCDS33181.1																																																																																				0.378	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		55	88	0	0	0	1	0	55	88					A	37235920	G	A	37235920	2	1	48	1	0	0	0	0	0	0	0	1	7041	1136	40	1		1	HEATR5B	2	37235920	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	114783	37235920	205963453	488	4956										
HEATR5B	54497	broad.mit.edu	37	chr2	37268371	37268371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcctattccaccaacataacGatgcaaacaaccaagagcca	5	14	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37268371G>A	ENST00000233099.5	-	19	2856	c.2761C>T	c.(2761-2763)Cgt>Tgt	p.R921C	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R921C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	921						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)				CCAACATAACGATGCAAACAA	0.433																																						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.(2761-2763)Cgt>Tgt		HEAT repeat containing 5B							174	152	160					2																	37268371		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37268371G>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.2761C>T	2.37:g.37268371G>A	ENSP00000233099:p.Arg921Cys		Somatic				HEATR5B_ENST00000354531.2_Missense_Mutation_p.R921C	p.R921C	NM_019024.1	NP_061897.1	WXS	Illumina GAIIx	Phase_I	Q9P2D3	HTR5B_HUMAN			19	2856	-		all_hematologic(82;0.21)	921					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2761C>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265414	0.95399	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.07800	3.16;3.16	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33979	-0.9847	10	0.87932	D	0	-17.0957	19.2841	0.94063	0.0:0.0:1.0:0.0	.	921	Q9P2D3	HTR5B_HUMAN	C	921	ENSP00000233099:R921C;ENSP00000346531:R921C	ENSP00000233099:R921C	R	-	1	0	HEATR5B	37121875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.894000	0.87336	2.535000	0.85469	0.655000	0.94253	CGT		0.433	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		32	43	0	0	0	1	0	32	43					A	37268371	G	A	37268371	3	1	48	1	0	0	0	0	1	0	0	0	7041	1058	37	1	3526	1	HEATR5B	2	37268371	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	32451	37268371	205931002	489	4957										
HEATR5B	54497	broad.mit.edu	37	chr2	37287862	37287862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catcttgggcagatggtaacGaacgacagatggtcctagcc	12	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37287862G>A	ENST00000233099.5	-	12	1806	c.1711C>T	c.(1711-1713)Cgt>Tgt	p.R571C	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R571C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	571						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.R571C(1)		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)				AGATGGTAACGAACGACAGAT	0.418																																						ENST00000233099.5																			1	Substitution - Missense(1)	p.R571C(1)	skin(1)	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.(1711-1713)Cgt>Tgt		HEAT repeat containing 5B							102	92	96					2																	37287862		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37287862G>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.1711C>T	2.37:g.37287862G>A	ENSP00000233099:p.Arg571Cys		Somatic				HEATR5B_ENST00000354531.2_Missense_Mutation_p.R571C	p.R571C	NM_019024.1	NP_061897.1	WXS	Illumina GAIIx	Phase_I	Q9P2D3	HTR5B_HUMAN			12	1806	-		all_hematologic(82;0.21)	571					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.1711C>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096619	0.76870	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.08896	3.04;3.04	5.01	5.01	0.66863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.67900	0.954	T	0.00690	-1.1608	10	0.87932	D	0	-19.852	18.6771	0.91532	0.0:0.0:1.0:0.0	.	571	Q9P2D3	HTR5B_HUMAN	C	571	ENSP00000233099:R571C;ENSP00000346531:R571C	ENSP00000233099:R571C	R	-	1	0	HEATR5B	37141366	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	5.509000	0.67012	2.486000	0.83907	0.563000	0.77884	CGT		0.418	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		31	38	0	0	0	1	0	31	38					A	37287862	G	A	37287862	3	1	48	1	0	0	0	0	1	0	0	0	7041	1058	37	1	4604	1	HEATR5B	2	37287862	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	19491	37287862	205911511	490	4958										
EIF2AK2	5610	broad.mit.edu	37	chr2	37374085	37374085	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accttcaccttctggaaattCtcttccatctattataactt	2	12	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37374085C>A	ENST00000233057.4	-	4	473	c.151G>T	c.(151-153)Gaa>Taa	p.E51*	EIF2AK2_ENST00000395127.2_Nonsense_Mutation_p.E51*|EIF2AK2_ENST00000405334.1_Nonsense_Mutation_p.E51*	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	51	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TCTGGAAATTCTCTTCCATCT	0.323																																						ENST00000233057.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22						c.(151-153)Gaa>Taa		eukaryotic translation initiation factor 2-alpha kinase 2							101	94	97					2																	37374085		2203	4299	6502	SO:0001587	stop_gained	5610				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	g.chr2:37374085C>A	BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 83"	176871	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.151G>T	2.37:g.37374085C>A	ENSP00000233057:p.Glu51*		Somatic				EIF2AK2_ENST00000395127.2_Nonsense_Mutation_p.E51*|EIF2AK2_ENST00000405334.1_Nonsense_Mutation_p.E51*	p.E51*	NM_001135651.2	NP_001129123.1	WXS	Illumina GAIIx	Phase_I	P19525	E2AK2_HUMAN			4	473	-		all_hematologic(82;0.248)	51			DRBM 1.		A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Nonsense_Mutation	SNP	ENST00000233057.4	37	c.151G>T	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829257	0.71258	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156;ENST00000411537;ENST00000390013	.	.	.	5.54	1.81	0.25067	.	0.543653	0.17851	N	0.159877	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-11.6349	7.4764	0.27378	0.0:0.657:0.0:0.343	.	.	.	.	X	51	.	ENSP00000233057:E51X	E	-	1	0	EIF2AK2	37227589	0.001000	0.12720	0.022000	0.16811	0.003000	0.03518	-0.741000	0.04855	0.058000	0.16222	-0.127000	0.14921	GAA		0.323	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		6	18	1	0	0.217242	1	0.218251	6	18					A	37374085	C	A	37374085	4	1	48	1	0	0	0	0	0	1	0	0	4999	922	32	2	1560	2	EIF2AK2	2	37374085	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	86223	37374085	205825288	491	4959										
CEBPZ	10153	broad.mit.edu	37	chr2	37455758	37455758	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgaggctggggtttcaaaGaatattcattgctgtactcc	10	9	2	2	rs201042392		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37455758G>T	ENST00000234170.5	-	2	723	c.578C>A	c.(577-579)tCt>tAt	p.S193Y		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	193					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.S193Y(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GGGTTTCAAAGAATATTCATT	0.368													G|||	1	0.000199681	8e-04	0	5008	,	,		19719	0		0	False		,,,				2504	0					ENST00000234170.5																			1	Substitution - Missense(1)	p.S193Y(1)	large_intestine(1)	breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(577-579)tCt>tAt		CCAAT/enhancer binding protein (C/EBP), zeta		G	TYR/SER	1,4405	2.1+/-5.4	0,1,2202	122	125	124		578	2.8	0.1	2		124	3,8597	3.7+/-12.6	0,3,4297	yes	missense	CEBPZ	NM_005760.2	144	0,4,6499	TT,TG,GG		0.0349,0.0227,0.0308	possibly-damaging	193/1055	37455758	4,13002	2203	4300	6503	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37455758G>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.578C>A	2.37:g.37455758G>T	ENSP00000234170:p.Ser193Tyr		Somatic					p.S193Y	NM_005760.2	NP_005751.2	WXS	Illumina GAIIx	Phase_I	Q03701	CEBPZ_HUMAN			2	723	-		all_hematologic(82;0.21)	193					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.578C>A	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778505	0.49786	2.27E-4	3.49E-4	ENSG00000115816	ENST00000234170;ENST00000545744;ENST00000446769	T;T	0.02656	4.21;4.21	5.66	2.8	0.32819	.	0.147080	0.53938	D	0.000053	T	0.08758	0.0217	M	0.68952	2.095	0.09310	N	1	D	0.55385	0.971	P	0.50617	0.646	T	0.04650	-1.0936	10	0.87932	D	0	.	16.7598	0.85509	0.0:0.3639:0.636:0.0	.	193	Q03701	CEBPZ_HUMAN	Y	193;193;144	ENSP00000234170:S193Y;ENSP00000391881:S144Y	ENSP00000234170:S193Y	S	-	2	0	CEBPZ	37309262	0.959000	0.32827	0.138000	0.22173	0.945000	0.59286	3.430000	0.52807	0.290000	0.22444	0.655000	0.94253	TCT		0.368	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		28	60	1	0	1.88708e-17	1	2.5355e-17	28	60					T	37455758	G	T	37455758	3	4	48	1	0	0	0	0	1	0	0	0	3206	942	33	2	2646	2	CEBPZ	2	37455758	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	81673	37455758	205743615	492	4960										
PRKD3	23683	broad.mit.edu	37	chr2	37487503	37487503	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcaaacatacattccaggtTtacaatcccaggatggtgca	7	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37487503T>G	ENST00000379066.1	-	15	2671	c.1909A>C	c.(1909-1911)Aac>Cac	p.N637H	PRKD3_ENST00000234179.2_Missense_Mutation_p.N637H			O94806	KPCD3_HUMAN	protein kinase D3	637	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)				CATTCCAGGTTTACAATCCCA	0.383																																					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.(1909-1911)Aac>Cac		protein kinase D3							78	76	77					2																	37487503		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.chr2:37487503T>G	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.1909A>C	2.37:g.37487503T>G	ENSP00000368356:p.Asn637His		Somatic				PRKD3_ENST00000234179.2_Missense_Mutation_p.N637H	p.N637H			WXS	Illumina GAIIx	Phase_I	O94806	KPCD3_HUMAN			15	2671	-		all_hematologic(82;0.21)	637			Protein kinase.		D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.1909A>C	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.971722	0.53614	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443977	T;T;T	0.39997	1.05;1.05;1.05	5.65	5.65	0.86999	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	0.30135	0.0755	N	0.05487	-0.04	0.80722	D	1	P	0.36086	0.536	B	0.40101	0.319	T	0.24728	-1.0152	10	0.46703	T	0.11	-20.7692	15.8865	0.79255	0.0:0.0:0.0:1.0	.	637	O94806	KPCD3_HUMAN	H	637;637;172	ENSP00000368356:N637H;ENSP00000234179:N637H;ENSP00000398743:N172H	ENSP00000234179:N637H	N	-	1	0	PRKD3	37341007	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	5.020000	0.64066	2.143000	0.66587	0.528000	0.53228	AAC		0.383	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		12	13	0	0	0	1	0	12	13					G	37487503	T	G	37487503	3	3	48	1	0	0	0	0	1	0	0	0	12532	1841	64	4	783	4	PRKD3	2	37487503	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	31745	37487503	205711870	493	4961										
QPCT	25797	broad.mit.edu	37	chr2	37586751	37586751	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcagcgaattcagaggcttcAggctgactgggtcttggaaa	14	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37586751A>C	ENST00000338415.3	+	3	454	c.296A>C	c.(295-297)cAg>cCg	p.Q99P	QPCT_ENST00000537448.1_Missense_Mutation_p.Q50P	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	99					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CAGAGGCTTCAGGCTGACTGG	0.398																																						ENST00000338415.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17						c.(295-297)cAg>cCg		glutaminyl-peptide cyclotransferase							77	68	71					2																	37586751		2203	4300	6503	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37586751A>C	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"glutaminyl cyclase"	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.296A>C	2.37:g.37586751A>C	ENSP00000344829:p.Gln99Pro		Somatic				QPCT_ENST00000537448.1_Missense_Mutation_p.Q50P	p.Q99P	NM_012413.3	NP_036545.1	WXS	Illumina GAIIx	Phase_I	Q16769	QPCT_HUMAN			3	454	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	99					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.296A>C	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.995745	0.35226	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448	T;T;T	0.28255	1.62;1.62;1.62	5.53	4.39	0.52855	.	0.227351	0.47093	D	0.000259	T	0.40171	0.1106	M	0.72894	2.215	0.45762	D	0.998655	P;B	0.36412	0.552;0.416	P;B	0.45712	0.491;0.296	T	0.19095	-1.0316	10	0.30078	T	0.28	-19.7577	10.8537	0.46786	0.9265:0.0:0.0735:0.0	.	50;99	Q16769-2;Q16769	.;QPCT_HUMAN	P	99;50;50	ENSP00000344829:Q99P;ENSP00000385391:Q50P;ENSP00000441606:Q50P	ENSP00000344829:Q99P	Q	+	2	0	QPCT	37440255	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.659000	0.54489	2.092000	0.63282	0.533000	0.62120	CAG		0.398	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			19	29	0	0	0	1	0	19	29					C	37586751	A	C	37586751	3	2	48	1	0	0	0	0	1	0	0	0	12889	188	7	4	306	4	QPCT	2	37586751	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	99248	37586751	205612622	494	4962										
DHX57	90957	broad.mit.edu	37	chr2	39055483	39055483	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagaaagcaattagcttaccGattactacgtctgttgttga	8	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:39055483G>A	ENST00000295373.6	-	14	2764	c.2638C>T	c.(2638-2640)Cga>Tga	p.R880*		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	880	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)				TTAGCTTACCGATTACTACGT	0.388																																					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.e14+1		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							128	123	125					2																	39055483		2203	4300	6503	SO:0001630	splice_region_variant	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39055483G>A	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2639+1C>T	2.37:g.39055483G>A			Somatic					p.R880_splice	NM_198963.1	NP_945314.1	WXS	Illumina GAIIx	Phase_I	Q6P158	DHX57_HUMAN			14	2764	-		all_hematologic(82;0.248)	880			Helicase C-terminal.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Splice_Site	SNP	ENST00000295373.6	37	c.2639_splice	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.465105|5.465105	0.96257|0.96257	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.40144|.	N|.	0.001161|.	.|T	.|0.63861	.|0.2547	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69183	.|-0.5212	.|3	0.02654|.	T|.	1|.	.|.	13.404|13.404	0.60900|0.60900	0.0:0.0:0.7369:0.2631|0.0:0.0:0.7369:0.2631	.|.	.|.	.|.	.|.	X|L	880|203	.|.	ENSP00000295373:R880X|.	R|S	-|-	1|2	2|0	DHX57|DHX57	38908987|38908987	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.967000|0.967000	0.64934|0.64934	2.498000|2.498000	0.45363|0.45363	2.567000|2.567000	0.86603|0.86603	0.650000|0.650000	0.86243|0.86243	CGA|TCG		0.388	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646	Nonsense_Mutation	10	23	0	0	0	1	0	10	23					A	39055483	G	A	39055483	5	1	48	1	0	0	0	0	0	0	1	0	4515	1072	37	1	1566	1	DHX57	2	39055483	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1468732	39055483	204143890	495	4963										
DHX57	90957	broad.mit.edu	37	chr2	39095357	39095357	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgattcactgaagatacaaAagtcatctccatcatcccat	4	11	4	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:39095357A>C	ENST00000295373.6	-	2	317	c.191T>G	c.(190-192)tTt>tGt	p.F64C	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	64							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)				GAAGATACAAAAGTCATCTCC	0.468																																					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.(190-192)tTt>tGt		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							121	115	117					2																	39095357		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095357A>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.191T>G	2.37:g.39095357A>C	ENSP00000295373:p.Phe64Cys		Somatic					p.F64C	NM_198963.1	NP_945314.1	WXS	Illumina GAIIx	Phase_I	Q6P158	DHX57_HUMAN			2	317	-		all_hematologic(82;0.248)	64					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.191T>G	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085442	0.76642	.	.	ENSG00000163214	ENST00000295373	T	0.02890	4.12	4.39	4.39	0.52855	.	0.000000	0.47852	D	0.000211	T	0.05410	0.0143	N	0.08118	0	0.44380	D	0.997287	D;D	0.89917	1.0;0.997	D;P	0.74023	0.982;0.808	T	0.56721	-0.7932	10	0.66056	D	0.02	.	13.0277	0.58825	1.0:0.0:0.0:0.0	.	64;64	Q6P158-2;Q6P158	.;DHX57_HUMAN	C	64	ENSP00000295373:F64C	ENSP00000295373:F64C	F	-	2	0	DHX57	38948861	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.946000	0.75953	1.864000	0.54056	0.449000	0.29647	TTT		0.468	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		24	72	0	0	0	1	0	24	72					C	39095357	A	C	39095357	3	2	48	1	0	0	0	0	1	0	0	0	4515	14	1	4	4061	4	DHX57	2	39095357	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	39874	39095357	204104016	496	4964										
MAP4K3	8491	broad.mit.edu	37	chr2	39499439	39499439	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttaccttggcagtattctgTcagggagtttgtgtgctgga	13	7	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:39499439T>C	ENST00000263881.3	-	26	2282	c.1958A>G	c.(1957-1959)gAc>gGc	p.D653G	MAP4K3_ENST00000536018.1_Missense_Mutation_p.D206G|MAP4K3_ENST00000341681.5_Missense_Mutation_p.D632G|MAP4K3_ENST00000437545.1_Missense_Mutation_p.D569G	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	653	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CAGTATTCTGTCAGGGAGTTT	0.368																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1957-1959)gAc>gGc		mitogen-activated protein kinase kinase kinase kinase 3							98	100	99					2																	39499439		2203	4300	6503	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39499439T>C	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1958A>G	2.37:g.39499439T>C	ENSP00000263881:p.Asp653Gly		Somatic				MAP4K3_ENST00000437545.1_Missense_Mutation_p.D569G|MAP4K3_ENST00000536018.1_Missense_Mutation_p.D206G|MAP4K3_ENST00000341681.5_Missense_Mutation_p.D632G	p.D653G	NM_003618.3	NP_003609.2	WXS	Illumina GAIIx	Phase_I	Q8IVH8	M4K3_HUMAN			26	2282	-		all_hematologic(82;0.211)	653			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.1958A>G	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.654545	0.88056	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.72725	-0.68;-0.52;-0.67;2.23	5.48	5.48	0.80851	Citron-like (3);	0.000000	0.85682	D	0.000000	D	0.82337	0.5015	M	0.68317	2.08	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.76575	0.951;0.988	T	0.82552	-0.0400	10	0.45353	T	0.12	.	15.8756	0.79159	0.0:0.0:0.0:1.0	.	632;653	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	G	653;569;632;206	ENSP00000263881:D653G;ENSP00000416958:D569G;ENSP00000345434:D632G;ENSP00000440580:D206G	ENSP00000263881:D653G	D	-	2	0	MAP4K3	39352943	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.295000	0.78780	2.208000	0.71279	0.528000	0.53228	GAC		0.368	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		8	36	0	0	0	1	0	8	36					C	39499439	T	C	39499439	3	2	48	1	0	0	0	0	1	0	0	0	9270	1667	58	4	762	4	MAP4K3	2	39499439	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	404082	39499439	203699934	497	4965										
SLC8A1	6546	broad.mit.edu	37	chr2	40366764	40366764	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaaagtgcatcacgtaatcGaaacaggagggcagcttctc	11	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:40366764G>A	ENST00000403092.1	-	10	2355	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F	SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.F738F|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.F738F|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000406391.2_Silent_p.F738F|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.F769F|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.F774F|SLC8A1_ENST00000405901.3_Silent_p.F769F|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.F766F|SLC8A1_ENST00000542024.1_Silent_p.F738F|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000406785.2_Silent_p.F738F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	774					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)	TCACGTAATCGAAACAGGAGG	0.502																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2212-2214)ttC>ttT		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						195	170	178					2																	40366764		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40366764G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2322C>T	2.37:g.40366764G>A			Somatic				SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.F766F|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.F769F|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.F738F|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.F774F|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.F738F|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000406391.2_Silent_p.F738F|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.F774F|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.F769F|SLC8A1_ENST00000542024.1_Silent_p.F738F	p.F738F			WXS	Illumina GAIIx	Phase_I	P32418	NAC1_HUMAN			7	2403	-			774					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.2214C>T	CCDS1806.1																																																																																				0.502	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		46	86	0	0	0	1	0	46	86					A	40366764	G	A	40366764	2	1	48	1	0	0	0	0	0	0	0	1	14721	1049	37	1		1	SLC8A1	2	40366764	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	867325	40366764	202832609	498	4966										
SLC8A1	6546	broad.mit.edu	37	chr2	40401859	40401859	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcttaccaaacaggtatttTccttcattaaaagcaaataa	4	8	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:40401859T>C	ENST00000403092.1	-	6	1989	c.1956A>G	c.(1954-1956)ggA>ggG	p.G652G	SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000542756.1_Intron|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000332839.4_Splice_Site_p.G652G|SLC8A1_ENST00000405901.3_Intron|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000408028.2_Splice_Site_p.G644G|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000406785.2_Intron			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	652					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)	ACAGGTATTTTCCTTCATTAA	0.274																																						ENST00000403092.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.e6-1		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						46	53	51					2																	40401859		2186	4289	6475	SO:0001630	splice_region_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40401859T>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.1955-1A>G	2.37:g.40401859T>C			Somatic				SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000408028.2_Splice_Site_p.G644_splice|SLC8A1_ENST00000406785.1_Intron|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Splice_Site_p.G652_splice|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Intron|SLC8A1_ENST00000542024.1_Intron	p.G652_splice			WXS	Illumina GAIIx	Phase_I	P32418	NAC1_HUMAN			6	1989	-			652					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Splice_Site	SNP	ENST00000403092.1	37	c.1954_splice	CCDS1806.1																																																																																				0.274	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097	Silent	7	22	0	0	0	1	0	7	22					C	40401859	T	C	40401859	5	2	48	1	0	0	0	0	0	0	1	0	14721	1797	62	4	989	4	SLC8A1	2	40401859	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	35095	40401859	202797514	499	4967										
SLC8A1	6546	broad.mit.edu	37	chr2	40655715	40655715	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttatatggaacgataacaTttcctcgagctccagatgtt	7	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:40655715T>C	ENST00000403092.1	-	2	1739	c.1706A>G	c.(1705-1707)aAt>aGt	p.N569S	SLC8A1_ENST00000405269.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.N569S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.N569S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.N569S|SLC8A1_ENST00000408028.2_Missense_Mutation_p.N569S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000406785.2_Missense_Mutation_p.N569S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	569	Calx-beta 2.				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)	AACGATAACATTTCCTCGAGC	0.453																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(1705-1707)aAt>aGt		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						132	134	133					2																	40655715		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.chr2:40655715T>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.1706A>G	2.37:g.40655715T>C	ENSP00000384763:p.Asn569Ser		Somatic				SLC8A1_ENST00000408028.2_Missense_Mutation_p.N569S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.N569S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000403092.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.N569S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.N569S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.N569S	p.N569S			WXS	Illumina GAIIx	Phase_I	P32418	NAC1_HUMAN			2	1895	-			569			Calx-beta 2.		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1706A>G	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	T	9.273	1.046100	0.19748	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.87	4.7	0.59300	Na-Ca exchanger/integrin-beta4 (2);	0.186771	0.64402	D	0.000017	T	0.13670	0.0331	N	0.05199	-0.095	0.36952	D	0.892896	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;0.001;0.001	T	0.10683	-1.0619	10	0.36615	T	0.2	.	6.5757	0.22564	0.0:0.0814:0.1582:0.7604	.	569;569;569;569;569	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	S	569	ENSP00000383886:N569S;ENSP00000440727:N569S;ENSP00000384763:N569S;ENSP00000385678:N569S;ENSP00000385188:N569S;ENSP00000385535:N569S;ENSP00000332931:N569S;ENSP00000384908:N569S;ENSP00000385811:N569S;ENSP00000443515:N569S	ENSP00000332931:N569S	N	-	2	0	SLC8A1	40509219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.922000	0.48860	2.371000	0.80710	0.533000	0.62120	AAT		0.453	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		20	63	0	0	0	1	0	20	63					C	40655715	T	C	40655715	3	2	48	1	0	0	0	0	1	0	0	0	14721	1493	52	4	1363	4	SLC8A1	2	40655715	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	253856	40655715	202543658	500	4968										
THADA	63892	broad.mit.edu	37	chr2	43797628	43797628	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttataaagtacctgagaacTttcctgtatcctacaaaaca	4	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:43797628T>G	ENST00000405006.4	-	14	2437	c.2086A>C	c.(2086-2088)Agt>Cgt	p.S696R	THADA_ENST00000403856.1_Missense_Mutation_p.S696R|THADA_ENST00000404790.1_Missense_Mutation_p.S696R|THADA_ENST00000330266.7_Missense_Mutation_p.S406R|THADA_ENST00000415080.2_Missense_Mutation_p.S406R|THADA_ENST00000402360.2_Missense_Mutation_p.S696R|THADA_ENST00000405975.2_Missense_Mutation_p.S696R	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	696										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)				ACCTGAGAACTTTCCTGTATC	0.363																																						ENST00000403856.1																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(2086-2088)Agt>Cgt		thyroid adenoma associated							119	111	113					2																	43797628		1830	4089	5919	SO:0001583	missense	63892						binding	g.chr2:43797628T>G	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.2086A>C	2.37:g.43797628T>G	ENSP00000385995:p.Ser696Arg		Somatic				THADA_ENST00000405006.4_Missense_Mutation_p.S696R|THADA_ENST00000330266.7_Missense_Mutation_p.S406R|THADA_ENST00000415080.2_Missense_Mutation_p.S406R|THADA_ENST00000405975.2_Missense_Mutation_p.S696R|THADA_ENST00000404790.1_Missense_Mutation_p.S696R|THADA_ENST00000402360.2_Missense_Mutation_p.S696R	p.S696R			WXS	Illumina GAIIx	Phase_I	Q6YHU6	THADA_HUMAN			15	2233	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	696					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.2086A>C	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.980643|3.980643	0.74474|0.74474	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	.|T;T;T;T;T;T;T	.|0.65364	.|1.46;1.46;1.46;1.46;-0.15;-0.15;0.95	5.41|5.41	4.26|4.26	0.50523|0.50523	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74816|0.74816	0.3766|0.3766	M|M	0.67953|0.67953	2.075|2.075	0.41440|0.41440	D|D	0.987917|0.987917	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D	.|0.87578	.|0.988;0.974;0.998;0.996;0.975	T|T	0.77517|0.77517	-0.2558|-0.2558	5|10	.|0.72032	.|D	.|0.01	.|.	10.668|10.668	0.45741|0.45741	0.0:0.0747:0.0:0.9253|0.0:0.0747:0.0:0.9253	.|.	.|696;696;696;406;696	.|B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.|.;.;.;.;THADA_HUMAN	N|R	9|406;696;697;406;696;696;696;696	.|ENSP00000331105:S406R;ENSP00000386088:S696R;ENSP00000416048:S406R;ENSP00000385995:S696R;ENSP00000385441:S696R;ENSP00000384266:S696R;ENSP00000385469:S696R	.|ENSP00000331105:S406R	K|S	-|-	3|1	2|0	THADA|THADA	43651132|43651132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	3.583000|3.583000	0.53928|0.53928	2.047000|2.047000	0.60756|0.60756	0.482000|0.482000	0.46254|0.46254	AAA|AGT		0.363	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		10	23	0	0	0	1	0	10	23					G	43797628	T	G	43797628	3	3	48	1	0	0	0	0	1	0	0	0	15855	1609	56	4	3875	4	THADA	2	43797628	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	3141913	43797628	199401745	501	4969										
THADA	63892	broad.mit.edu	37	chr2	43798951	43798951	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atttcttccatggaaacaatTtctgtgctccgattactttc	5	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:43798951T>G	ENST00000405006.4	-	13	2310	c.1959A>C	c.(1957-1959)gaA>gaC	p.E653D	THADA_ENST00000403856.1_Missense_Mutation_p.E653D|THADA_ENST00000404790.1_Missense_Mutation_p.E653D|THADA_ENST00000330266.7_Missense_Mutation_p.E363D|THADA_ENST00000415080.2_Missense_Mutation_p.E363D|THADA_ENST00000402360.2_Missense_Mutation_p.E653D|THADA_ENST00000405975.2_Missense_Mutation_p.E653D	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	653										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)				TGGAAACAATTTCTGTGCTCC	0.358																																						ENST00000403856.1																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(1957-1959)gaA>gaC		thyroid adenoma associated							129	132	131					2																	43798951		1867	4102	5969	SO:0001583	missense	63892						binding	g.chr2:43798951T>G	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.1959A>C	2.37:g.43798951T>G	ENSP00000385995:p.Glu653Asp		Somatic				THADA_ENST00000405006.4_Missense_Mutation_p.E653D|THADA_ENST00000330266.7_Missense_Mutation_p.E363D|THADA_ENST00000415080.2_Missense_Mutation_p.E363D|THADA_ENST00000405975.2_Missense_Mutation_p.E653D|THADA_ENST00000404790.1_Missense_Mutation_p.E653D|THADA_ENST00000402360.2_Missense_Mutation_p.E653D	p.E653D			WXS	Illumina GAIIx	Phase_I	Q6YHU6	THADA_HUMAN			14	2106	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	653					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.1959A>C	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.873883	0.51695	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;1.24;1.24;1.49	5.16	-0.252	0.12999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70937	0.3281	L	0.61036	1.89	0.23537	N	0.997467	D;D;D;D;D	0.89917	1.0;1.0;0.998;0.997;0.999	D;D;D;P;D	0.87578	0.998;0.996;0.955;0.904;0.991	T	0.61931	-0.6961	10	0.44086	T	0.13	-0.3917	9.8574	0.41094	0.0:0.3435:0.0:0.6565	.	653;653;653;363;653	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	D	363;653;653;363;653;653;653;653	ENSP00000331105:E363D;ENSP00000386088:E653D;ENSP00000416048:E363D;ENSP00000385995:E653D;ENSP00000385441:E653D;ENSP00000384266:E653D;ENSP00000385469:E653D	ENSP00000331105:E363D	E	-	3	2	THADA	43652455	0.358000	0.24947	0.385000	0.26158	0.757000	0.42996	0.487000	0.22356	0.076000	0.16826	-0.376000	0.06991	GAA		0.358	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		39	60	0	0	0	1	0	39	60					G	43798951	T	G	43798951	3	3	48	1	0	0	0	0	1	0	0	0	15855	1838	64	4	4006	4	THADA	2	43798951	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1323	43798951	199400422	502	4970										
DYNC2LI1	51626	broad.mit.edu	37	chr2	44021614	44021614	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggacgttttctcttgttctCgttctggatctttcaaaacc	7	10	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:44021614C>T	ENST00000260605.8	+	6	439	c.339C>T	c.(337-339)ctC>ctT	p.L113L	DYNC2LI1_ENST00000443170.3_5'UTR|DYNC2LI1_ENST00000605786.1_Silent_p.L113L|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000406852.3_Silent_p.L113L	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	113					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTCTTGTTCTCGTTCTGGATC	0.333																																						ENST00000260605.8																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26						c.(337-339)ctC>ctT		dynein, cytoplasmic 2, light intermediate chain 1							69	72	71					2																	44021614		2202	4300	6502	SO:0001819	synonymous_variant	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44021614C>T		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"Cytoplasmic dyneins"	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.339C>T	2.37:g.44021614C>T			Somatic				DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000443170.3_5'UTR|DYNC2LI1_ENST00000406852.3_Silent_p.L113L|DYNC2LI1_ENST00000605786.1_Silent_p.L113L	p.L113L	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	WXS	Illumina GAIIx	Phase_I	Q8TCX1	DC2L1_HUMAN			6	439	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	113					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Silent	SNP	ENST00000260605.8	37	c.339C>T	CCDS1813.1	.	.	.	.	.	.	.	.	.	.	C	6.627	0.484051	0.12581	.	.	ENSG00000138036	ENST00000378587	.	.	.	4.72	3.57	0.40892	.	.	.	.	.	T	0.54615	0.1869	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49579	-0.8925	4	.	.	.	-16.5954	5.7063	0.17911	0.0:0.1617:0.1445:0.6938	.	.	.	.	L	97	.	.	S	+	2	0	DYNC2LI1	43875118	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	0.357000	0.20199	0.934000	0.37316	-0.482000	0.04802	TCG		0.333	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008		8	23	0	0	0	1	0	8	23					T	44021614	C	T	44021614	2	4	48	1	0	0	0	0	0	0	0	1	4849	871	31	1		1	DYNC2LI1	2	44021614	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	222663	44021614	199177759	503	4971										
ABCG8	64241	broad.mit.edu	37	chr2	44073297	44073297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgatatctccccacaggtgGacctggcctctcaggtccct	9	16	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:44073297G>A	ENST00000272286.2	+	3	259	c.169G>A	c.(169-171)Gac>Aac	p.D57N		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	57	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	CCCACAGGTGGACCTGGCCTC	0.547																																						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.(169-171)Gac>Aac		ATP-binding cassette, sub-family G (WHITE), member 8							66	66	66					2																	44073297		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.chr2:44073297G>A	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.169G>A	2.37:g.44073297G>A	ENSP00000272286:p.Asp57Asn		Somatic					p.D57N	NM_022437.2	NP_071882.1	WXS	Illumina GAIIx	Phase_I	Q9H221	ABCG8_HUMAN			3	259	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	57			ABC transporter.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.169G>A	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	8.036	0.762737	0.15914	.	.	ENSG00000143921	ENST00000272286	D	0.88277	-2.36	5.7	1.7	0.24286	ABC transporter-like (1);	0.191376	0.56097	N	0.000040	T	0.74913	0.3779	N	0.16656	0.425	0.47037	D	0.999296	B;B	0.28933	0.228;0.146	B;B	0.27262	0.078;0.036	T	0.63001	-0.6734	10	0.07813	T	0.8	.	9.099	0.36656	0.5482:0.0:0.4518:0.0	.	57;57	Q9H221-2;Q9H221	.;ABCG8_HUMAN	N	57	ENSP00000272286:D57N	ENSP00000272286:D57N	D	+	1	0	ABCG8	43926801	1.000000	0.71417	0.874000	0.34290	0.059000	0.15707	2.941000	0.49011	0.292000	0.22492	-0.793000	0.03317	GAC		0.547	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		28	35	0	0	0	1	0	28	35					A	44073297	G	A	44073297	3	1	48	1	0	0	0	0	1	0	0	0	72	1174	41	3	179	3	ABCG8	2	44073297	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	51683	44073297	199126076	504	4972										
LRPPRC	10128	broad.mit.edu	37	chr2	44170828	44170828	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaattcaattaacttacttTtccaagtgtacagtgaccaa	4	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:44170828T>G	ENST00000260665.7	-	23	2559	c.2502A>C	c.(2500-2502)gaA>gaC	p.E834D		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	834					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)				TAACTTACTTTTCCAAGTGTA	0.338																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(2500-2502)gaA>gaC		leucine-rich pentatricopeptide repeat containing							106	106	106					2																	44170828		2203	4299	6502	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.chr2:44170828T>G	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.2502A>C	2.37:g.44170828T>G	ENSP00000260665:p.Glu834Asp		Somatic					p.E834D	NM_133259.3	NP_573566.2	WXS	Illumina GAIIx	Phase_I	P42704	LPPRC_HUMAN			23	2559	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	834					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.2502A>C	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387382	0.42308	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.56941	0.43	6.06	4.92	0.64577	.	0.339313	0.33327	N	0.005023	T	0.47764	0.1463	M	0.63843	1.955	0.80722	D	1	B;B	0.29988	0.174;0.264	B;B	0.29077	0.098;0.044	T	0.41502	-0.9505	10	0.35671	T	0.21	-8.2385	9.2682	0.37654	0.0:0.1375:0.0:0.8625	.	734;834	F5H4J6;P42704	.;LPPRC_HUMAN	D	734;834	ENSP00000260665:E834D	ENSP00000260665:E834D	E	-	3	2	LRPPRC	44024332	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.867000	0.39499	1.118000	0.41863	0.528000	0.53228	GAA		0.338	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		10	51	0	0	0	1	0	10	51					G	44170828	T	G	44170828	3	3	48	1	0	0	0	0	1	0	0	0	8974	1838	64	4	1746	4	LRPPRC	2	44170828	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	97531	44170828	199028545	505	4973										
LRPPRC	10128	broad.mit.edu	37	chr2	44187698	44187698	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaaaatgataatacaaagtCtaagttcccatttgctgctt	5	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:44187698C>A	ENST00000260665.7	-	13	1621	c.1564G>T	c.(1564-1566)Gac>Tac	p.D522Y	LRPPRC_ENST00000409946.1_Missense_Mutation_p.D522Y	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	522					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)				AATACAAAGTCTAAGTTCCCA	0.363																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(1564-1566)Gac>Tac		leucine-rich pentatricopeptide repeat containing							145	140	142					2																	44187698		2203	4300	6503	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.chr2:44187698C>A	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.1564G>T	2.37:g.44187698C>A	ENSP00000260665:p.Asp522Tyr		Somatic				LRPPRC_ENST00000409946.1_Missense_Mutation_p.D522Y	p.D522Y	NM_133259.3	NP_573566.2	WXS	Illumina GAIIx	Phase_I	P42704	LPPRC_HUMAN			13	1621	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	522					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.1564G>T	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463007	0.43736	.	.	ENSG00000138095	ENST00000465633;ENST00000260665;ENST00000409946	T;T	0.58358	0.36;0.34	4.93	3.1	0.35709	.	0.427763	0.26224	N	0.025614	T	0.53190	0.1781	L	0.57536	1.79	0.52501	D	0.999957	P;P	0.52842	0.938;0.956	P;P	0.50860	0.652;0.564	T	0.50533	-0.8817	10	0.48119	T	0.1	-7.6108	6.7572	0.23520	0.0:0.6849:0.1516:0.1635	.	422;522	F5H4J6;P42704	.;LPPRC_HUMAN	Y	422;522;522	ENSP00000260665:D522Y;ENSP00000386234:D522Y	ENSP00000260665:D522Y	D	-	1	0	LRPPRC	44041202	0.208000	0.23494	0.899000	0.35326	0.682000	0.39822	0.068000	0.14531	0.631000	0.30412	0.591000	0.81541	GAC		0.363	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		7	57	1	0	1.12685e-05	1	1.24509e-05	7	57					A	44187698	C	A	44187698	3	1	48	1	0	0	0	0	1	0	0	0	8974	913	32	2	2724	2	LRPPRC	2	44187698	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	16870	44187698	199011675	506	4974										
SRBD1	55133	broad.mit.edu	37	chr2	45620089	45620089	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agttcaactgtttacctgttCgaaagtcaaagctttcaggc	8	9	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:45620089C>T	ENST00000263736.4	-	20	2755	c.2693G>A	c.(2692-2694)cGa>cAa	p.R898Q	SRBD1_ENST00000535761.1_Missense_Mutation_p.R417Q|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	898					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)			TTTACCTGTTCGAAAGTCAAA	0.413																																						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.(2692-2694)cGa>cAa		S1 RNA binding domain 1							296	243	261					2																	45620089		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45620089C>T	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.2693G>A	2.37:g.45620089C>T	ENSP00000263736:p.Arg898Gln		Somatic				SRBD1_ENST00000535761.1_Missense_Mutation_p.R417Q|SRBD1_ENST00000490133.1_5'UTR	p.R898Q	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)		20	2755	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	898					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.2693G>A	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952456	0.92660	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.41400	1.3;1.0	5.55	4.67	0.58626	.	0.000000	0.64402	D	0.000001	T	0.70622	0.3245	M	0.91196	3.185	0.54753	D	0.999989	D	0.89917	1.0	D	0.74674	0.984	T	0.78909	-0.2018	10	0.87932	D	0	.	14.558	0.68115	0.0:0.9297:0.0:0.0703	.	898	Q8N5C6	SRBD1_HUMAN	Q	898;417	ENSP00000263736:R898Q;ENSP00000441272:R417Q	ENSP00000263736:R898Q	R	-	2	0	SRBD1	45473593	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.575000	0.74018	1.484000	0.48361	0.563000	0.77884	CGA		0.413	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		41	74	0	0	0	1	0	41	74					T	45620089	C	T	45620089	3	4	48	1	0	0	0	0	1	0	0	0	15148	884	31	1	302	1	SRBD1	2	45620089	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1432391	45620089	197579284	507	4975										
SRBD1	55133	broad.mit.edu	37	chr2	45645642	45645642	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttctctcgccattcaataAtatttttggccctgttggca	6	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:45645642A>C	ENST00000263736.4	-	18	2257	c.2195T>G	c.(2194-2196)aTt>aGt	p.I732S	SRBD1_ENST00000535761.1_Missense_Mutation_p.I251S|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	732					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)			CCATTCAATAATATTTTTGGC	0.388																																						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.(2194-2196)aTt>aGt		S1 RNA binding domain 1							184	130	149					2																	45645642		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45645642A>C	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.2195T>G	2.37:g.45645642A>C	ENSP00000263736:p.Ile732Ser		Somatic				SRBD1_ENST00000535761.1_Missense_Mutation_p.I251S|SRBD1_ENST00000490133.1_5'UTR	p.I732S	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)		18	2257	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	732					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.2195T>G	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.729077	0.89390	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.47177	1.05;0.85	5.96	5.96	0.96718	Tex RuvX-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81413	0.4817	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.88794	0.3280	10	0.87932	D	0	.	16.4883	0.84191	1.0:0.0:0.0:0.0	.	732	Q8N5C6	SRBD1_HUMAN	S	732;251	ENSP00000263736:I732S;ENSP00000441272:I251S	ENSP00000263736:I732S	I	-	2	0	SRBD1	45499146	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.828000	0.92047	2.292000	0.77174	0.524000	0.50904	ATT		0.388	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		23	40	0	0	0	1	0	23	40					C	45645642	A	C	45645642	3	2	48	1	0	0	0	0	1	0	0	0	15148	101	4	4	808	4	SRBD1	2	45645642	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	25553	45645642	197553731	508	4976										
PIGF	5281	broad.mit.edu	37	chr2	46842208	46842208	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttccaatattgagaagttCtccaagaagagtgatggaat	10	5	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:46842208C>A	ENST00000281382.6	-	2	266	c.96G>T	c.(94-96)gaG>gaT	p.E32D	PIGF_ENST00000495933.1_5'UTR|CRIPT_ENST00000238892.3_5'Flank|PIGF_ENST00000306465.4_Missense_Mutation_p.E32D	NM_002643.3	NP_002634.1	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class F	32					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)	ethanolaminephosphotransferase activity (GO:0004307)			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TTGAGAAGTTCTCCAAGAAGA	0.343																																						ENST00000281382.6																			0				breast(1)|endometrium(1)|lung(1)|stomach(1)	4						c.(94-96)gaG>gaT		phosphatidylinositol glycan anchor biosynthesis, class F							136	137	136					2																	46842208		2203	4299	6502	SO:0001583	missense	5281				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity	g.chr2:46842208C>A		CCDS1827.1, CCDS1828.1	2p21-p16	2013-02-26	2006-06-28		ENSG00000151665	ENSG00000151665		"Phosphatidylinositol glycan anchor biosynthesis"	8962	protein-coding gene	gene with protein product		600153	"phosphatidylinositol glycan, class F"			8575782, 8463218	Standard	NM_173074		Approved		uc002rvd.3	Q07326	OTTHUMG00000128816	ENST00000281382.6:c.96G>T	2.37:g.46842208C>A	ENSP00000281382:p.Glu32Asp		Somatic				PIGF_ENST00000306465.4_Missense_Mutation_p.E32D|PIGF_ENST00000495933.1_5'UTR	p.E32D	NM_002643.3	NP_002634.1	WXS	Illumina GAIIx	Phase_I	Q07326	PIGF_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	266	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	32					Q8WW20	Missense_Mutation	SNP	ENST00000281382.6	37	c.96G>T	CCDS1827.1	.	.	.	.	.	.	.	.	.	.	C	8.193	0.796353	0.16327	.	.	ENSG00000151665	ENST00000281382;ENST00000306465;ENST00000474980	.	.	.	5.28	2.42	0.29668	.	0.411462	0.28521	N	0.015058	T	0.07413	0.0187	N	0.01015	-1.05	0.22389	N	0.999144	B;B	0.11235	0.0;0.004	B;B	0.11329	0.001;0.006	T	0.35076	-0.9803	9	0.07175	T	0.84	-1.2944	4.3062	0.10947	0.2479:0.4246:0.2551:0.0724	.	32;32	Q07326;Q07326-2	PIGF_HUMAN;.	D	32	.	ENSP00000281382:E32D	E	-	3	2	PIGF	46695712	0.823000	0.29233	0.999000	0.59377	0.924000	0.55760	0.166000	0.16583	0.275000	0.22094	0.650000	0.86243	GAG		0.343	PIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250749.2	NM_173074		30	62	1	0	1.06801e-11	1	1.33247e-11	30	62					A	46842208	C	A	46842208	3	1	48	1	0	0	0	0	1	0	0	0	11896	912	32	2	662	2	PIGF	2	46842208	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1196566	46842208	196357165	509	4977										
CRIPT	9419	broad.mit.edu	37	chr2	46851312	46851312	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttgtttcaggcatctgtgcGatgtgtggaaaaaaggtttt	12	4	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:46851312G>A	ENST00000238892.3	+	5	384	c.252G>A	c.(250-252)gcG>gcA	p.A84A	CRIPT_ENST00000486447.1_3'UTR	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	cysteine-rich PDZ-binding protein	84					cytoplasmic microtubule organization (GO:0031122)|establishment of protein localization (GO:0045184)|protein localization to microtubule (GO:0035372)|regulation of postsynaptic density protein 95 clustering (GO:1902897)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	microtubule binding (GO:0008017)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)			kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GCATCTGTGCGATGTGTGGAA	0.328																																						ENST00000238892.3																			0				kidney(1)|large_intestine(1)|lung(2)	4						c.(250-252)gcG>gcA		cysteine-rich PDZ-binding protein							92	96	95					2																	46851312		2203	4299	6502	SO:0001819	synonymous_variant	9419					cell junction|cytoplasm|dendritic spine		g.chr2:46851312G>A	AA165108	CCDS1829.1	2p21	2008-02-05			ENSG00000119878	ENSG00000119878			14312	protein-coding gene	gene with protein product		604594				16091592, 11744724, 10570482, 9581762	Standard	NM_014171		Approved	HSPC139	uc002rve.3	Q9P021	OTTHUMG00000128815	ENST00000238892.3:c.252G>A	2.37:g.46851312G>A			Somatic				CRIPT_ENST00000486447.1_3'UTR	p.A84A	NM_014171.4	NP_054890.1	WXS	Illumina GAIIx	Phase_I	Q9P021	CRIPT_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		5	384	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	84						Silent	SNP	ENST00000238892.3	37	c.252G>A	CCDS1829.1																																																																																				0.328	CRIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250748.1	NM_014171		10	37	0	0	0	1	0	10	37					A	46851312	G	A	46851312	2	1	48	1	0	0	0	0	0	0	0	1	3880	1045	37	1		1	CRIPT	2	46851312	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	9104	46851312	196348061	510	4978										
SOCS5	9655	broad.mit.edu	37	chr2	46986192	46986192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagcagaactgtaggaagtCgctctctaagacagaggttg	12	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:46986192C>T	ENST00000306503.5	+	2	695	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	SOCS5_ENST00000394861.2_Missense_Mutation_p.R175C	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	175					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TGTAGGAAGTCGCTCTCTAAG	0.458																																						ENST00000306503.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(523-525)Cgc>Tgc		suppressor of cytokine signaling 5							68	66	66					2																	46986192		2200	4293	6493	SO:0001583	missense	0				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986192C>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.523C>T	2.37:g.46986192C>T	ENSP00000305133:p.Arg175Cys		Somatic				SOCS5_ENST00000394861.2_Missense_Mutation_p.R175C	p.R175C	NM_014011.4	NP_054730.1	WXS	Illumina GAIIx	Phase_I	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	695	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	175					Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.523C>T	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449808	0.63290	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.65916	-0.18;-0.18	5.31	5.31	0.75309	.	0.222819	0.45126	D	0.000382	T	0.72269	0.3439	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74688	-0.3581	10	0.87932	D	0	-18.3767	18.7613	0.91853	0.0:1.0:0.0:0.0	.	175	O75159	SOCS5_HUMAN	C	175	ENSP00000305133:R175C;ENSP00000378330:R175C	ENSP00000305133:R175C	R	+	1	0	SOCS5	46839696	1.000000	0.71417	0.991000	0.47740	0.629000	0.37895	7.619000	0.83057	2.770000	0.95276	0.655000	0.94253	CGC		0.458	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			22	56	0	0	0	1	0	22	56					T	46986192	C	T	46986192	3	4	48	1	0	0	0	0	1	0	0	0	14932	884	31	1	525	1	SOCS5	2	46986192	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	134880	46986192	196213181	511	4979										
MSH6	2956	broad.mit.edu	37	chr2	48026710	48026710	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttacagtgtgctggaaggtGatccctctgagaactacagt	11	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:48026710G>T	ENST00000234420.5	+	4	1740	c.1588G>T	c.(1588-1590)Gat>Tat	p.D530Y	MSH6_ENST00000540021.1_Missense_Mutation_p.D400Y|MSH6_ENST00000538136.1_Missense_Mutation_p.D228Y|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	530					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)			GCTGGAAGGTGATCCCTCTGA	0.428			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"Mis, N, F, S"	mutS homolog 6 (E. coli)			E		"colorectal, endometrial, ovarian"	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(1588-1590)Gat>Tat	Mismatch excision repair (MMR)	mutS homolog 6							128	124	125					2																	48026710		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.chr2:48026710G>T	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.1588G>T	2.37:g.48026710G>T	ENSP00000234420:p.Asp530Tyr		Somatic				MSH6_ENST00000538136.1_Missense_Mutation_p.D228Y|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.D400Y	p.D530Y	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	1740	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	530					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.1588G>T	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277708	0.40294	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.89196	-2.11;-2.22;-2.48	5.24	4.35	0.52113	.	0.272209	0.41294	D	0.000914	D	0.91835	0.7416	M	0.73372	2.23	0.80722	D	1	D;D;D	0.62365	0.966;0.966;0.991	P;P;P	0.60609	0.781;0.781;0.877	D	0.91945	0.5566	10	0.87932	D	0	-5.25	9.5943	0.39565	0.1561:0.0:0.8439:0.0	.	400;530;530	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	Y	530;528;400;228	ENSP00000234420:D530Y;ENSP00000446475:D400Y;ENSP00000438580:D228Y	ENSP00000234420:D530Y	D	+	1	0	MSH6	47880214	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.746000	0.74866	2.458000	0.83093	0.650000	0.86243	GAT		0.428	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		26	42	1	0	9.04412e-07	1	1.02139e-06	26	42					T	48026710	G	T	48026710	3	4	48	1	0	0	0	0	1	0	0	0	9883	1290	45	2	1602	2	MSH6	2	48026710	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1040518	48026710	195172663	512	4980										
LHCGR	3973	broad.mit.edu	37	chr2	48914916	48914916	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caacttcaaggtggattgagAaggcttatttgatccagtga	11	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:48914916A>T	ENST00000294954.7	-	11	2041	c.2020T>A	c.(2020-2022)Tct>Act	p.S674T	LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.S647T|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.S612T	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	674					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)			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)	GTGGATTGAGAAGGCTTATTT	0.428																																						ENST00000294954.7																			0				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.(2020-2022)Tct>Act		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						126	122	123					2																	48914916		2203	4300	6503	SO:0001583	missense	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48914916A>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.2020T>A	2.37:g.48914916A>T	ENSP00000294954:p.Ser674Thr		Somatic				LHCGR_ENST00000344775.3_Missense_Mutation_p.S612T|LHCGR_ENST00000405626.1_Missense_Mutation_p.S647T|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000403273.1_3'UTR	p.S674T	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	2041	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	674					Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.2020T>A	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	A	4.910	0.169156	0.09339	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.76060	-0.99;-0.82;-0.89	5.4	-1.28	0.09318	.	1.206280	0.05638	N	0.582836	T	0.67822	0.2934	M	0.70595	2.14	0.09310	N	0.999999	B	0.25007	0.116	B	0.24394	0.053	T	0.49969	-0.8882	9	.	.	.	.	2.0601	0.03590	0.4988:0.1255:0.253:0.1227	.	674	P22888	LSHR_HUMAN	T	612;674;647	ENSP00000344301:S612T;ENSP00000294954:S674T;ENSP00000386033:S647T	.	S	-	1	0	LHCGR	48768420	0.731000	0.28111	0.009000	0.14445	0.175000	0.22909	1.061000	0.30542	-0.108000	0.12066	0.477000	0.44152	TCT		0.428	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		20	80	0	0	0	1	0	20	80					T	48914916	A	T	48914916	3	4	48	1	0	0	0	0	1	0	0	0	8771	246	9	4	83	4	LHCGR	2	48914916	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	888206	48914916	194284457	513	4981										
LHCGR	3973	broad.mit.edu	37	chr2	48915866	48915866	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccctaaggaagtcatagcccAtaatatcttcacagggatta	7	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:48915866A>G	ENST00000294954.7	-	11	1091	c.1070T>C	c.(1069-1071)aTg>aCg	p.M357T	LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.M330T|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.M295T	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	357					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)			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)	GTCATAGCCCATAATATCTTC	0.428																																						ENST00000294954.7																			0				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.(1069-1071)aTg>aCg		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						130	131	131					2																	48915866		2203	4300	6503	SO:0001583	missense	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915866A>G		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.1070T>C	2.37:g.48915866A>G	ENSP00000294954:p.Met357Thr		Somatic				LHCGR_ENST00000344775.3_Missense_Mutation_p.M295T|LHCGR_ENST00000405626.1_Missense_Mutation_p.M330T|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000403273.1_Intron	p.M357T	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	1091	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	357					Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1070T>C	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.135720	0.37728	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	D;D;D	0.85556	-2.0;-2.0;-2.0	5.91	5.91	0.95273	.	0.210307	0.53938	D	0.000057	D	0.85405	0.5689	M	0.85945	2.785	0.52501	D	0.999958	P	0.39094	0.659	B	0.32211	0.142	D	0.86112	0.1563	9	.	.	.	.	15.5325	0.75974	1.0:0.0:0.0:0.0	.	357	P22888	LSHR_HUMAN	T	295;357;330	ENSP00000344301:M295T;ENSP00000294954:M357T;ENSP00000386033:M330T	.	M	-	2	0	LHCGR	48769370	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.239000	0.72356	2.252000	0.74401	0.533000	0.62120	ATG		0.428	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		39	51	0	0	0	1	0	39	51					G	48915866	A	G	48915866	3	3	48	1	0	0	0	0	1	0	0	0	8771	217	8	4	1033	4	LHCGR	2	48915866	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	950	48915866	194283507	514	4982										
FSHR	2492	broad.mit.edu	37	chr2	49195948	49195948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcttttttaagttgtaagtcGacctggccctcagcttctta	8	10	2	0	rs267599404		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:49195948G>A	ENST00000406846.2	-	9	862	c.743C>T	c.(742-744)tCg>tTg	p.S248L	FSHR_ENST00000304421.4_Missense_Mutation_p.S222L|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000541117.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	248					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.S248*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GTTGTAAGTCGACCTGGCCCT	0.443									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			1	Substitution - Nonsense(1)	p.S248*(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(742-744)tCg>tTg		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						96	91	93					2																	49195948		2203	4300	6503	SO:0001583	missense	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49195948G>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.743C>T	2.37:g.49195948G>A	ENSP00000384708:p.Ser248Leu		Somatic				FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Missense_Mutation_p.S222L|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000541117.1_5'UTR	p.S248L	NM_000145.3	NP_000136.2	WXS	Illumina GAIIx	Phase_I	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	862	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	248					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.743C>T	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736248	0.69189	.	.	ENSG00000170820	ENST00000406846;ENST00000304421	T;T	0.80304	-1.36;-1.36	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.81158	0.4764	M	0.87269	2.87	0.80722	D	1	P;P	0.51791	0.918;0.948	B;B	0.33799	0.17;0.155	D	0.85404	0.1133	9	.	.	.	.	18.4504	0.90702	0.0:0.0:1.0:0.0	.	222;248	Q05AH0;P23945	.;FSHR_HUMAN	L	248;222	ENSP00000384708:S248L;ENSP00000306780:S222L	.	S	-	2	0	FSHR	49049452	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	4.335000	0.59298	2.836000	0.97738	0.655000	0.94253	TCG		0.443	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			10	41	0	0	0	1	0	10	41					A	49195948	G	A	49195948	3	1	48	1	0	0	0	0	1	0	0	0	6081	1059	37	1	1352	1	FSHR	2	49195948	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	280082	49195948	194003425	515	4983										
NRXN1	9378	broad.mit.edu	37	chr2	50724487	50724487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaccctttaactaattcaaCcacaataaagtcatttccat	1	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:50724487C>T	ENST00000406316.2	-	14	4339	c.2863G>A	c.(2863-2865)Gtt>Att	p.V955I	NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000401669.2_Missense_Mutation_p.V955I|NRXN1_ENST00000406859.3_Missense_Mutation_p.V955I|NRXN1_ENST00000405472.3_Missense_Mutation_p.V947I|NRXN1_ENST00000404971.1_Missense_Mutation_p.V995I|NRXN1_ENST00000402717.3_Missense_Mutation_p.V947I|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	955	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTAATTCAACCACAATAAAG	0.338																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2983-2985)Gtt>Att		neurexin 1							69	67	68					2																	50724487		1848	4097	5945	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50724487C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2863G>A	2.37:g.50724487C>T	ENSP00000384311:p.Val955Ile		Somatic				NRXN1_ENST00000405472.3_Missense_Mutation_p.V947I|NRXN1_ENST00000406859.3_Missense_Mutation_p.V955I|NRXN1_ENST00000401669.2_Missense_Mutation_p.V955I|NRXN1_ENST00000402717.3_Missense_Mutation_p.V947I|NRXN1_ENST00000406316.2_Missense_Mutation_p.V955I|NRXN1_ENST00000331040.5_5'UTR	p.V995I	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)		15	4322	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	955			Laminin G-like 5.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2983G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467115	0.84533	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.58	5.58	0.84498	.	0.057162	0.64402	D	0.000001	T	0.67655	0.2916	N	0.20401	0.57	0.51482	D	0.999928	B;B;B	0.32507	0.373;0.011;0.08	B;B;B	0.33750	0.169;0.016;0.084	T	0.62955	-0.6744	10	0.21540	T	0.41	.	19.769	0.96353	0.0:1.0:0.0:0.0	.	995;955;947	Q9ULB1-3;F8WB18;A7E294	.;.;.	I	995;955;947;955;996;947;955	ENSP00000385142:V995I;ENSP00000384311:V955I;ENSP00000434015:V947I;ENSP00000385017:V955I;ENSP00000385434:V947I;ENSP00000385681:V955I	ENSP00000385017:V955I	V	-	1	0	NRXN1	50577991	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.912000	0.69948	2.906000	0.99361	0.655000	0.94253	GTT		0.338	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	37	0	0	0	1	0	4	37					T	50724487	C	T	50724487	3	4	48	1	0	0	0	0	1	0	0	0	10674	507	18	3	1963	3	NRXN1	2	50724487	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1528539	50724487	192474886	516	4984										
SPTBN1	6711	broad.mit.edu	37	chr2	54858519	54858519	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaacatcaagaacgagatcgAcaactacgaggaggactacc	10	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:54858519A>G	ENST00000356805.4	+	16	3616	c.3335A>G	c.(3334-3336)gAc>gGc	p.D1112G	SPTBN1_ENST00000333896.5_Missense_Mutation_p.D1099G	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1112					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)			AACGAGATCGACAACTACGAG	0.587																																						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.(3295-3297)gAc>gGc		spectrin, beta, non-erythrocytic 1							183	149	160					2																	54858519		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54858519A>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.3335A>G	2.37:g.54858519A>G	ENSP00000349259:p.Asp1112Gly		Somatic				SPTBN1_ENST00000356805.4_Missense_Mutation_p.D1112G	p.D1099G	NM_178313.2	NP_842565.2	WXS	Illumina GAIIx	Phase_I	Q01082	SPTB2_HUMAN	Lung(47;0.24)		15	3681	+			1112					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.3296A>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.937990	0.52972	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.49720	0.77;0.77	5.56	5.56	0.83823	.	0.328810	0.33180	N	0.005187	T	0.50069	0.1594	M	0.63843	1.955	0.38296	D	0.942855	B;B	0.15719	0.005;0.014	B;B	0.25614	0.03;0.062	T	0.53767	-0.8392	10	0.62326	D	0.03	.	15.727	0.77770	1.0:0.0:0.0:0.0	.	1099;1112	Q01082-3;Q01082	.;SPTB2_HUMAN	G	1112;1099	ENSP00000349259:D1112G;ENSP00000334156:D1099G	ENSP00000334156:D1099G	D	+	2	0	SPTBN1	54712023	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.088000	0.50175	2.118000	0.64928	0.533000	0.62120	GAC		0.587	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			46	95	0	0	0	1	0	46	95					G	54858519	A	G	54858519	3	3	48	1	0	0	0	0	1	0	0	0	15134	275	10	4	3506	4	SPTBN1	2	54858519	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	4134032	54858519	188340854	517	4985										
CCDC88A	55704	broad.mit.edu	37	chr2	55561822	55561822	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcatgcttgcacacttcaaaGattctacattccttcgcagt	5	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:55561822G>T	ENST00000436346.1	-	15	2976	c.2135C>A	c.(2134-2136)tCt>tAt	p.S712Y	AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.S712Y|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.S712Y|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.S712Y	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	712					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						ACACTTCAAAGATTCTACATT	0.378																																						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.(2134-2136)tCt>tAt		coiled-coil domain containing 88A							88	90	89					2																	55561822		2202	4299	6501	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.chr2:55561822G>T	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.2135C>A	2.37:g.55561822G>T	ENSP00000410608:p.Ser712Tyr		Somatic				AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.S712Y|CCDC88A_ENST00000263630.8_Missense_Mutation_p.S712Y|CCDC88A_ENST00000413716.2_Missense_Mutation_p.S712Y|AC012358.8_ENST00000599475.1_RNA	p.S712Y	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	WXS	Illumina GAIIx	Phase_I	Q3V6T2	GRDN_HUMAN			15	2976	-			712					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.2135C>A		.	.	.	.	.	.	.	.	.	.	G	16.54	3.151911	0.57151	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.16073	2.37;2.66;2.6;2.39	4.9	4.9	0.64082	.	0.000000	0.47852	U	0.000210	T	0.39436	0.1078	L	0.55990	1.75	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.999	D;D;D	0.83275	0.921;0.996;0.974	T	0.15464	-1.0436	10	0.59425	D	0.04	-6.3082	18.4293	0.90619	0.0:0.0:1.0:0.0	.	712;712;712	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	Y	712	ENSP00000338728:S712Y;ENSP00000263630:S712Y;ENSP00000410608:S712Y;ENSP00000404431:S712Y	ENSP00000263630:S712Y	S	-	2	0	CCDC88A	55415326	1.000000	0.71417	0.974000	0.42286	0.985000	0.73830	5.764000	0.68826	2.421000	0.82119	0.462000	0.41574	TCT		0.378	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		17	34	1	0	2.48551e-13	1	3.17925e-13	17	34					T	55561822	G	T	55561822	3	4	48	1	0	0	0	0	1	0	0	0	2865	942	33	2	3552	2	CCDC88A	2	55561822	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	703303	55561822	187637551	518	4986										
EFEMP1	2202	broad.mit.edu	37	chr2	56102133	56102133	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccctgggggcacatacatgaGaatttcccaggttcattgac	10	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:56102133G>T	ENST00000394555.2	-	8	1383	c.948C>A	c.(946-948)ttC>ttA	p.F316L	EFEMP1_ENST00000394554.1_Missense_Mutation_p.F316L|EFEMP1_ENST00000355426.3_Missense_Mutation_p.F316L|EFEMP1_ENST00000424836.2_Missense_Mutation_p.F178L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	316	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACATACATGAGAATTTCCCAG	0.383																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(946-948)ttC>ttA		EGF containing fibulin-like extracellular matrix protein 1							139	120	127					2																	56102133		2203	4300	6503	SO:0001583	missense	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56102133G>T	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.948C>A	2.37:g.56102133G>T	ENSP00000378058:p.Phe316Leu		Somatic				EFEMP1_ENST00000424836.2_Missense_Mutation_p.F178L|EFEMP1_ENST00000394554.1_Missense_Mutation_p.F316L|EFEMP1_ENST00000355426.3_Missense_Mutation_p.F316L	p.F316L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	WXS	Illumina GAIIx	Phase_I	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		8	1383	-			316			EGF-like 5; calcium-binding (Potential).|Mediates interaction with TIMP3.		A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	c.948C>A	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316903	0.60524	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	D;D;D;D	0.95918	-3.85;-3.85;-3.83;-3.85	5.66	3.86	0.44501	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000003	D	0.97439	0.9162	M	0.87381	2.88	0.49483	D	0.999796	D;P	0.60575	0.988;0.565	D;B	0.75020	0.985;0.21	D	0.97003	0.9730	10	0.87932	D	0	.	9.7446	0.40440	0.2123:0.0:0.7877:0.0	.	178;316	B4DW75;Q12805	.;FBLN3_HUMAN	L	316;316;172;178;316	ENSP00000378058:F316L;ENSP00000378057:F316L;ENSP00000399145:F178L;ENSP00000347596:F316L	ENSP00000347596:F316L	F	-	3	2	EFEMP1	55955637	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	4.172000	0.58243	0.753000	0.32945	0.478000	0.44815	TTC		0.383	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			23	26	1	0	7.33628e-21	1	1.00811e-20	23	26					T	56102133	G	T	56102133	3	4	48	1	0	0	0	0	1	0	0	0	4943	933	33	2	549	2	EFEMP1	2	56102133	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	540311	56102133	187097240	519	4987										
BCL11A	53335	broad.mit.edu	37	chr2	60689471	60689471	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagtagattcttaatccatgAgtgttctgtgcgtgttgcaa	10	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:60689471A>G	ENST00000335712.6	-	4	803	c.576T>C	c.(574-576)acT>acC	p.T192T	BCL11A_ENST00000538214.1_Silent_p.T158T|BCL11A_ENST00000359629.5_Silent_p.T192T|BCL11A_ENST00000356842.4_Silent_p.T192T|BCL11A_ENST00000537768.1_Silent_p.T40T|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.T158T	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	192	Required for nuclear body formation and for SUMO1 recruitment. {ECO:0000250}.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTAATCCATGAGTGTTCTGTG	0.488			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.(574-576)acT>acC		B-cell CLL/lymphoma 11A (zinc finger protein)							98	97	97					2																	60689471		2203	4300	6503	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60689471A>G	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.576T>C	2.37:g.60689471A>G			Somatic				BCL11A_ENST00000358510.4_Silent_p.T158T|BCL11A_ENST00000537768.1_Silent_p.T40T|BCL11A_ENST00000359629.5_Silent_p.T192T|BCL11A_ENST00000538214.1_Silent_p.T158T|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.T192T	p.T192T	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	803	-			192			Required for nuclear body formation and for SUMO1 recruitment (By similarity).		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.576T>C	CCDS1862.1																																																																																				0.488	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		15	50	0	0	0	1	0	15	50					G	60689471	A	G	60689471	2	3	48	1	0	0	0	0	0	0	0	1	1363	291	11	4		4	BCL11A	2	60689471	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	4587338	60689471	182509902	520	4988										
REL	5966	broad.mit.edu	37	chr2	61118857	61118857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagataattgaacaacccaGgcagaggggaatgcgtttta	12	6	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61118857G>A	ENST00000295025.8	+	2	370	c.50G>A	c.(49-51)aGg>aAg	p.R17K	REL_ENST00000394479.3_Missense_Mutation_p.R17K	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	17	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)			GAACAACCCAGGCAGAGGGGA	0.418			A		Hodgkin Lymphoma																																	ENST00000295025.7				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.(49-51)aGg>aAg		v-rel avian reticuloendotheliosis viral oncogene homolog							130	124	126					2																	61118857		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.chr2:61118857G>A	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.50G>A	2.37:g.61118857G>A	ENSP00000295025:p.Arg17Lys		Somatic				REL_ENST00000394479.3_Missense_Mutation_p.R17K	p.R17K	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	370	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	17			RHD.		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.50G>A	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271073	0.40194	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.37752	1.18;1.18	5.44	4.57	0.56435	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.093212	0.64402	D	0.000001	T	0.09730	0.0239	N	0.00303	-1.675	0.44110	D	0.996884	P;P	0.44344	0.54;0.833	B;B	0.40565	0.25;0.333	T	0.39702	-0.9601	10	0.02654	T	1	-19.4763	14.0304	0.64613	0.0725:0.0:0.9275:0.0	.	17;17	Q17RU2;Q04864	.;REL_HUMAN	K	17	ENSP00000295025:R17K;ENSP00000377989:R17K	ENSP00000295025:R17K	R	+	2	0	REL	60972361	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.213000	0.77950	1.318000	0.45170	0.655000	0.94253	AGG		0.418	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		31	44	0	0	0	1	0	31	44					A	61118857	G	A	61118857	3	1	48	1	0	0	0	0	1	0	0	0	13230	1000	35	3	56	3	REL	2	61118857	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	429386	61118857	182080516	521	4989										
PUS10	150962	broad.mit.edu	37	chr2	61189976	61189976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttacttaaggaaatcctctTcctttatcttattcaaggct	4	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61189976T>C	ENST00000316752.6	-	9	1034	c.773A>G	c.(772-774)gAa>gGa	p.E258G	PUS10_ENST00000407787.1_Missense_Mutation_p.E258G	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	258					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GAAATCCTCTTCCTTTATCTT	0.313																																						ENST00000316752.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22						c.(772-774)gAa>gGa		pseudouridylate synthase 10							66	62	64					2																	61189976		2196	4295	6491	SO:0001583	missense	150962				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr2:61189976T>C	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"coiled-coil domain containing 139"	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.773A>G	2.37:g.61189976T>C	ENSP00000326003:p.Glu258Gly		Somatic				PUS10_ENST00000407787.1_Missense_Mutation_p.E258G	p.E258G	NM_144709.2	NP_653310.2	WXS	Illumina GAIIx	Phase_I	Q3MIT2	PUS10_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)		9	1034	-			258					Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	37	c.773A>G	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.352873	0.61293	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	.	.	.	5.46	5.46	0.80206	.	0.102234	0.64402	D	0.000003	T	0.51024	0.1650	L	0.54323	1.7	0.80722	D	1	P;P	0.38504	0.634;0.634	B;B	0.34242	0.178;0.178	T	0.49698	-0.8912	9	0.20519	T	0.43	1.1293	15.8338	0.78782	0.0:0.0:0.0:1.0	.	258;258	A8K6R4;Q3MIT2	.;PUS10_HUMAN	G	258	.	ENSP00000326003:E258G	E	-	2	0	PUS10	61043480	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.021000	0.76425	2.199000	0.70637	0.477000	0.44152	GAA		0.313	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709		7	5	0	0	0	1	0	7	5					C	61189976	T	C	61189976	3	2	48	1	0	0	0	0	1	0	0	0	12846	1783	62	4	856	4	PUS10	2	61189976	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	71119	61189976	182009397	522	4990										
KIAA1841	84542	broad.mit.edu	37	chr2	61331021	61331021	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggaccacatggttacacttCgtgatcaaggtgaaggcgga	14	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61331021C>T	ENST00000402291.1	+	13	1640	c.1399C>T	c.(1399-1401)Cgt>Tgt	p.R467C	KIAA1841_ENST00000356719.2_Missense_Mutation_p.R467C|KIAA1841_ENST00000453873.1_Missense_Mutation_p.R467C|KIAA1841_ENST00000295031.5_Missense_Mutation_p.R467C	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	467										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GGTTACACTTCGTGATCAAGG	0.418																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(1399-1401)Cgt>Tgt		KIAA1841							183	141	155					2																	61331021		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61331021C>T	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1399C>T	2.37:g.61331021C>T	ENSP00000385579:p.Arg467Cys		Somatic				KIAA1841_ENST00000356719.2_Missense_Mutation_p.R467C|KIAA1841_ENST00000295031.5_Missense_Mutation_p.R467C|KIAA1841_ENST00000453873.1_Missense_Mutation_p.R467C	p.R467C	NM_001129993.1	NP_001123465.1	WXS	Illumina GAIIx	Phase_I	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		13	1640	+			467					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.1399C>T	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	C	7.997	0.754630	0.15778	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.57	2.46	0.29980	.	0.839728	0.10898	N	0.621882	T	0.16171	0.0389	N	0.02011	-0.69	0.21675	N	0.999596	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.22521	-1.0214	9	0.54805	T	0.06	0.082	10.3675	0.44033	0.0:0.7691:0.0:0.2309	.	467;467	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	C	467	.	ENSP00000295031:R467C	R	+	1	0	KIAA1841	61184525	0.012000	0.17670	0.260000	0.24451	0.163000	0.22366	0.564000	0.23563	0.603000	0.29913	-0.266000	0.10368	CGT		0.418	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		14	20	0	0	0	1	0	14	20					T	61331021	C	T	61331021	3	4	48	1	0	0	0	0	1	0	0	0	8270	884	31	1	1441	1	KIAA1841	2	61331021	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	141045	61331021	181868352	523	4991										
USP34	9736	broad.mit.edu	37	chr2	61415812	61415812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcctcatcactgctaacacGccgccttttaatgggagttg	8	13	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61415812G>A	ENST00000398571.2	-	80	10142	c.10066C>T	c.(10066-10068)Cgt>Tgt	p.R3356C	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3356					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)			CTGCTAACACGCCGCCTTTTA	0.478																																						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.(10066-10068)Cgt>Tgt		ubiquitin specific peptidase 34							81	77	78					2																	61415812		1974	4160	6134	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.chr2:61415812G>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.10066C>T	2.37:g.61415812G>A	ENSP00000381577:p.Arg3356Cys		Somatic					p.R3356C	NM_014709.3	NP_055524.3	WXS	Illumina GAIIx	Phase_I	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		80	10142	-			3356					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.10066C>T	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.46|17.46	3.395839|3.395839	0.62177|0.62177	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269	.|T	.|0.04758	.|3.56	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.13030|0.13030	0.0316|0.0316	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.71414	.|0.973	T|T	0.05550|0.05550	-1.0878|-1.0878	5|10	.|0.66056	.|D	.|0.02	.|.	19.584|19.584	0.95484|0.95484	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3356	.|Q70CQ2	.|UBP34_HUMAN	V|C	1032|3204;3121;3356;234	.|ENSP00000381577:R3356C	.|ENSP00000263989:R3204C	A|R	-|-	2|1	0|0	USP34|USP34	61269316|61269316	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.979000|0.979000	0.70002|0.70002	5.391000|5.391000	0.66266|0.66266	2.692000|2.692000	0.91855|0.91855	0.591000|0.591000	0.81541|0.81541	GCG|CGT		0.478	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			21	20	0	0	0	1	0	21	20					A	61415812	G	A	61415812	3	1	48	1	0	0	0	0	1	0	0	0	17080	1087	38	1	578	1	USP34	2	61415812	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	84791	61415812	181783561	524	4992										
USP34	9736	broad.mit.edu	37	chr2	61575414	61575414	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attatgaccatgatcatcgtCttcatcttcctctttgaggg	7	10	5	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61575414C>A	ENST00000398571.2	-	15	1952	c.1876G>T	c.(1876-1878)Gac>Tac	p.D626Y		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	626					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)			TGATCATCGTCTTCATCTTCC	0.488																																						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.(1876-1878)Gac>Tac		ubiquitin specific peptidase 34							77	76	76					2																	61575414		2027	4186	6213	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.chr2:61575414C>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.1876G>T	2.37:g.61575414C>A	ENSP00000381577:p.Asp626Tyr		Somatic					p.D626Y	NM_014709.3	NP_055524.3	WXS	Illumina GAIIx	Phase_I	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		15	1952	-			626					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.1876G>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357680	0.41801	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.50277	0.75	5.92	5.92	0.95590	.	0.161857	0.51477	D	0.000087	T	0.37293	0.0998	N	0.08118	0	0.58432	D	0.999999	P	0.35844	0.524	B	0.39617	0.305	T	0.40156	-0.9578	10	0.62326	D	0.03	.	20.3213	0.98679	0.0:1.0:0.0:0.0	.	626	Q70CQ2	UBP34_HUMAN	Y	474;474;626	ENSP00000381577:D626Y	ENSP00000263989:D474Y	D	-	1	0	USP34	61428918	1.000000	0.71417	0.978000	0.43139	0.069000	0.16628	5.577000	0.67444	2.810000	0.96702	0.650000	0.86243	GAC		0.488	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			22	37	1	0	4.35082e-09	1	5.20082e-09	22	37					A	61575414	C	A	61575414	3	1	48	1	0	0	0	0	1	0	0	0	17080	913	32	2	9028	2	USP34	2	61575414	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	159602	61575414	181623959	525	4993										
XPO1	7514	broad.mit.edu	37	chr2	61717829	61717829	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgattagggagtaacatgTacttttctatcaagtgttct	8	6	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61717829T>C	ENST00000401558.2	-	17	2697	c.1970A>G	c.(1969-1971)tAc>tGc	p.Y657C	XPO1_ENST00000404992.2_Missense_Mutation_p.Y657C|XPO1_ENST00000406957.1_Missense_Mutation_p.Y657C	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	657	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			GAGTAACATGTACTTTTCTAT	0.353			Mis		CLL																																	ENST00000401558.2			-'	Dom	yes		2	2p15	7514	Mis	"exportin 1 (CRM1 homolog, yeast)"			L			CLL		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(1969-1971)tAc>tGc		exportin 1 (CRM1 homolog, yeast)							224	190	202					2																	61717829		2203	4300	6503	SO:0001583	missense	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61717829T>C	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1970A>G	2.37:g.61717829T>C	ENSP00000384863:p.Tyr657Cys		Somatic				XPO1_ENST00000404992.2_Missense_Mutation_p.Y657C|XPO1_ENST00000406957.1_Missense_Mutation_p.Y657C	p.Y657C	NM_003400.3	NP_003391.1	WXS	Illumina GAIIx	Phase_I	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		17	2697	-			657			Necessary for HTLV-1 Rex-mediated mRNA export.		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	c.1970A>G	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.713448	0.89112	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.66638	-0.22;-0.22;-0.22	6.16	6.16	0.99307	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82337	0.5015	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.972;0.983	D	0.84332	0.0522	10	0.87932	D	0	-9.3819	16.8061	0.85666	0.0:0.0:0.0:1.0	.	304;657	B3KWD0;O14980	.;XPO1_HUMAN	C	657	ENSP00000384863:Y657C;ENSP00000385942:Y657C;ENSP00000385559:Y657C	ENSP00000384863:Y657C	Y	-	2	0	XPO1	61571333	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.017000	0.88712	2.367000	0.80283	0.528000	0.53228	TAC		0.353	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		11	60	0	0	0	1	0	11	60					C	61717829	T	C	61717829	3	2	48	1	0	0	0	0	1	0	0	0	17460	1638	57	4	1281	4	XPO1	2	61717829	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	142415	61717829	181481544	526	4994										
FAM161A	84140	broad.mit.edu	37	chr2	62063239	62063239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctcatcctttccttttcgCtctttctaaaattaaagaaa	2	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:62063239C>T	ENST00000405894.3	-	4	1690	c.1589G>A	c.(1588-1590)aGc>aAc	p.S530N	FAM161A_ENST00000404929.1_Missense_Mutation_p.S586N	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	530					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCCTTTTCGCTCTTTCTAAA	0.308																																						ENST00000404929.1																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1756-1758)aGc>aAc		family with sequence similarity 161, member A							138	141	140					2																	62063239		1783	4054	5837	SO:0001583	missense	84140				response to stimulus|visual perception	centrosome		g.chr2:62063239C>T		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1589G>A	2.37:g.62063239C>T	ENSP00000385893:p.Ser530Asn		Somatic				FAM161A_ENST00000405894.3_Missense_Mutation_p.S530N	p.S586N	NM_001201543.1	NP_001188472.1	WXS	Illumina GAIIx	Phase_I	Q3B820	F161A_HUMAN			5	1768	-			540					B4DJV7|Q9H8R2	Missense_Mutation	SNP	ENST00000405894.3	37	c.1757G>A	CCDS42687.2	.	.	.	.	.	.	.	.	.	.	C	7.261	0.605203	0.14002	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.23552	1.95;1.9	5.56	1.25	0.21368	.	0.649174	0.16287	N	0.221094	T	0.18551	0.0445	L	0.39397	1.21	0.22226	N	0.999274	B;B	0.22480	0.07;0.012	B;B	0.28709	0.093;0.011	T	0.30765	-0.9967	10	0.17832	T	0.49	-18.8836	7.6976	0.28604	0.0:0.5087:0.0:0.4913	.	530;586	Q3B820;Q3B820-3	F161A_HUMAN;.	N	586;530	ENSP00000385158:S586N;ENSP00000385893:S530N	ENSP00000385158:S586N	S	-	2	0	FAM161A	61916743	0.934000	0.31675	0.991000	0.47740	0.150000	0.21749	1.092000	0.30927	0.323000	0.23307	-0.134000	0.14843	AGC		0.308	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		4	107	0	0	0	1	0	4	107					T	62063239	C	T	62063239	3	4	48	1	0	0	0	0	1	0	0	0	5477	797	28	3	405	3	FAM161A	2	62063239	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	345410	62063239	181136134	527	4995										
CCT4	10575	broad.mit.edu	37	chr2	62112207	62112207	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctaatagcatcagcaaccGctgcagatgggggggaaaaa	12	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:62112207G>A	ENST00000394440.3	-	2	424	c.128C>T	c.(127-129)gCg>gTg	p.A43V	CCT4_ENST00000538252.1_5'UTR|CCT4_ENST00000544079.1_Splice_Site_p.A43V|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544185.1_5'UTR	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	43					'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)			ATCAGCAACCGCTGCAGATGG	0.393																																						ENST00000394440.3																			0				breast(1)|large_intestine(2)|lung(6)|ovary(2)	11						c.e2-1		chaperonin containing TCP1, subunit 4 (delta)							123	105	111					2																	62112207		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.chr2:62112207G>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.128-1C>T	2.37:g.62112207G>A			Somatic				AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Splice_Site_p.A43_splice|CCT4_ENST00000544185.1_5'UTR|CCT4_ENST00000538252.1_5'UTR	p.A43_splice	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)		2	424	-	Lung NSC(7;0.035)|all_lung(7;0.0691)		43					B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Splice_Site	SNP	ENST00000394440.3	37	c.127_splice	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641525	0.87859	.	.	ENSG00000115484	ENST00000394440;ENST00000544079	T;T	0.12255	2.7;2.7	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.27594	0.0678	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67231	0.95;0.936	T	0.01858	-1.1259	10	0.49607	T	0.09	.	17.451	0.87592	0.0:0.0:1.0:0.0	.	43;43	F5H5W3;P50991	.;TCPD_HUMAN	V	43	ENSP00000377958:A43V;ENSP00000443061:A43V	ENSP00000377958:A43V	A	-	2	0	CCT4	61965711	1.000000	0.71417	0.998000	0.56505	0.840000	0.47671	9.608000	0.98331	2.241000	0.73720	0.655000	0.94253	GCG		0.393	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2		Missense_Mutation	6	37	0	0	0	1	0	6	37					A	62112207	G	A	62112207	5	1	48	1	0	0	0	0	0	0	1	0	2957	1101	38	1	1543	1	CCT4	2	62112207	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	48968	62112207	181087166	528	4996										
UGP2	7360	broad.mit.edu	37	chr2	64083494	64083494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagttccaagaagtcattcGgcaagagctagaattatctg	9	8	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:64083494G>A	ENST00000337130.5	+	2	550	c.74G>A	c.(73-75)cGg>cAg	p.R25Q	UGP2_ENST00000445915.2_Missense_Mutation_p.R34Q|UGP2_ENST00000467648.2_Missense_Mutation_p.R14Q|UGP2_ENST00000394417.2_Missense_Mutation_p.R14Q|UGP2_ENST00000487469.1_Intron	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	25				R -> L (in Ref. 1). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						GAAGTCATTCGGCAAGAGCTA	0.398																																						ENST00000337130.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						c.(73-75)cGg>cAg		UDP-glucose pyrophosphorylase 2							181	185	184					2																	64083494		2203	4300	6503	SO:0001583	missense	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64083494G>A		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"UDP-glucose pyrophosphorylase 1"	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.74G>A	2.37:g.64083494G>A	ENSP00000338703:p.Arg25Gln		Somatic				UGP2_ENST00000487469.1_Intron|UGP2_ENST00000445915.2_Missense_Mutation_p.R34Q|UGP2_ENST00000394417.2_Missense_Mutation_p.R14Q|UGP2_ENST00000467648.2_Missense_Mutation_p.R14Q	p.R25Q	NM_006759.3	NP_006750.3	WXS	Illumina GAIIx	Phase_I	Q16851	UGPA_HUMAN			2	550	+			25	R -> L (in Ref. 1).				Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	c.74G>A	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769632	0.69992	.	.	ENSG00000169764	ENST00000394417;ENST00000484142;ENST00000482668;ENST00000467648;ENST00000480679;ENST00000337130;ENST00000488245;ENST00000497883;ENST00000445915;ENST00000475462;ENST00000491621;ENST00000472047	T;T;T;T	0.45276	0.92;0.92;2.34;0.9	6.08	5.18	0.71444	.	0.056075	0.64402	D	0.000001	T	0.30823	0.0777	L	0.29908	0.895	0.54753	D	0.999989	B;B	0.24618	0.107;0.051	B;B	0.17722	0.019;0.019	T	0.07177	-1.0786	10	0.15499	T	0.54	-26.5245	15.2685	0.73681	0.0:0.0:0.8542:0.1458	.	34;25	E7EUC7;Q16851	.;UGPA_HUMAN	Q	14;25;14;14;14;25;14;17;34;14;14;14	ENSP00000377939:R14Q;ENSP00000420793:R14Q;ENSP00000338703:R25Q;ENSP00000411803:R34Q	ENSP00000338703:R25Q	R	+	2	0	UGP2	63936998	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.139000	0.71728	1.523000	0.49018	0.655000	0.94253	CGG		0.398	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		57	112	0	0	0	1	0	57	112					A	64083494	G	A	64083494	3	1	48	1	0	0	0	0	1	0	0	0	16958	1116	39	1	80	1	UGP2	2	64083494	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1971287	64083494	179115879	529	4997										
HSPC159	29094	broad.mit.edu	37	chr2	64685453	64685453	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagcacccacgtttccgagTgtttgtggatggacaccaac	11	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:64685453T>G	ENST00000238875.5	+	5	864	c.410T>G	c.(409-411)gTg>gGg	p.V137G	LGALSL_ENST00000409537.2_Missense_Mutation_p.C78G	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	137	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.					intracellular (GO:0005622)	carbohydrate binding (GO:0030246)										CGTTTCCGAGTGTTTGTGGAT	0.388																																						ENST00000238875.5																			0											c.(409-411)gTg>gGg		lectin, galactoside-binding-like							223	218	220					2																	64685453		2203	4300	6503	SO:0001583	missense	29094					intracellular	sugar binding	g.chr2:64685453T>G	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.410T>G	2.37:g.64685453T>G	ENSP00000238875:p.Val137Gly		Somatic				LGALSL_ENST00000409537.2_Missense_Mutation_p.C78G	p.V137G	NM_014181.2	NP_054900.2	WXS	Illumina GAIIx	Phase_I	Q3ZCW2	LEGL_HUMAN			5	864	+			137			Galectin.		B2RBG8|D6W5E8|Q6P5T6|Q9P005	Missense_Mutation	SNP	ENST00000238875.5	37	c.410T>G	CCDS1877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.76|13.76	2.334795|2.334795	0.41297|0.41297	.|.	.|.	ENSG00000119862|ENSG00000119862	ENST00000409537|ENST00000238875	D|T	0.97016|0.09163	-4.21|3.01	5.87|5.87	5.87|5.87	0.94306|0.94306	.|Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.|0.045343	.|0.85682	.|D	.|0.000000	T|T	0.43322|0.43322	0.1242|0.1242	M|M	0.91459|0.91459	3.21|3.21	0.39507|0.39507	D|D	0.968298|0.968298	.|D	.|0.71674	.|0.998	.|D	.|0.85130	.|0.997	T|T	0.56709|0.56709	-0.7934|-0.7934	6|10	.|0.87932	.|D	.|0	-13.6494|-13.6494	16.2806|16.2806	0.82678|0.82678	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|137	.|Q3ZCW2	.|LEGL_HUMAN	G|G	78|137	ENSP00000386242:C78G|ENSP00000238875:V137G	.|ENSP00000238875:V137G	C|V	+|+	1|2	0|0	AC008074.1|AC008074.1	64538957|64538957	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.698000|7.698000	0.84413|0.84413	2.248000|2.248000	0.74166|0.74166	0.533000|0.533000	0.62120|0.62120	TGT|GTG		0.388	LGALSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251731.2	NM_014181		22	159	0	0	0	1	0	22	159					G	64685453	T	G	64685453	3	3	48	1	0	0	0	0	1	0	0	0	7436	1696	59	4	428	4	HSPC159	2	64685453	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	601959	64685453	178513920	530	4998										
AFTPH	54812	broad.mit.edu	37	chr2	64779068	64779068	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgaaagtttctctccaggaGattttagaactaatatgaat	7	5	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:64779068G>T	ENST00000422803.1	+	2	774	c.460G>T	c.(460-462)Gat>Tat	p.D154Y	AFTPH_ENST00000409933.1_Missense_Mutation_p.D154Y|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238855.7_Missense_Mutation_p.D154Y|AFTPH_ENST00000238856.4_Missense_Mutation_p.D154Y			Q6ULP2	AFTIN_HUMAN	aftiphilin	154					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CTCTCCAGGAGATTTTAGAAC	0.388																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(460-462)Gat>Tat		aftiphilin							47	48	47					2																	64779068		2201	4300	6501	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64779068G>T	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.460G>T	2.37:g.64779068G>T	ENSP00000397726:p.Asp154Tyr		Somatic				AFTPH_ENST00000409933.1_Missense_Mutation_p.D154Y|AFTPH_ENST00000238856.4_Missense_Mutation_p.D154Y|AFTPH_ENST00000238855.7_Missense_Mutation_p.D154Y	p.D154Y			WXS	Illumina GAIIx	Phase_I	Q6ULP2	AFTIN_HUMAN			2	774	+			154					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.460G>T		.	.	.	.	.	.	.	.	.	.	G	13.00	2.106193	0.37145	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.78	4.89	0.63831	.	0.366876	0.29205	N	0.012828	T	0.43942	0.1270	L	0.55481	1.735	0.36990	D	0.894735	D;D;D;D	0.63880	0.986;0.986;0.986;0.993	P;P;P;D	0.63113	0.814;0.814;0.814;0.911	T	0.49293	-0.8955	10	0.72032	D	0.01	-16.3078	8.0881	0.30784	0.126:0.0:0.7349:0.1391	.	154;154;154;154	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	Y	154	ENSP00000238856:D154Y;ENSP00000397726:D154Y;ENSP00000238855:D154Y;ENSP00000387071:D154Y	ENSP00000238855:D154Y	D	+	1	0	AFTPH	64632572	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.066000	0.50002	2.894000	0.99253	0.591000	0.81541	GAT		0.388	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		16	38	1	0	3.45872e-05	1	3.78815e-05	16	38					T	64779068	G	T	64779068	3	4	48	1	0	0	0	0	1	0	0	0	364	942	33	2	462	2	AFTPH	2	64779068	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	93615	64779068	178420305	531	4999										
SLC1A4	6509	broad.mit.edu	37	chr2	65231096	65231096	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgatcacagtatgcaaccGattataaagtcgtgacccag	8	10	1	2	rs140402535		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:65231096G>A	ENST00000234256.3	+	3	823	c.580G>A	c.(580-582)Gat>Aat	p.D194N	SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_5'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	194					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	GTATGCAACCGATTATAAAGT	0.408																																						ENST00000234256.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(580-582)Gat>Aat		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)	G	,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	126	117	121		,580	2.1	0	2	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	yes	utr-5,missense	SLC1A4	NM_001193493.1,NM_003038.4	,23	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,benign	,194/533	65231096	2,13004	2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65231096G>A		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"Solute carriers"	10942	protein-coding gene	gene with protein product	"alanine/serine/cysteine/threonine transporter"	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.580G>A	2.37:g.65231096G>A	ENSP00000234256:p.Asp194Asn		Somatic				SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_5'UTR	p.D194N	NM_003038.4	NP_003029.2	WXS	Illumina GAIIx	Phase_I	P43007	SATT_HUMAN			3	823	+			194					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.580G>A	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675509	0.29783	2.27E-4	1.16E-4	ENSG00000115902	ENST00000448784;ENST00000234256	T	0.49432	0.78	5.94	2.1	0.27182	.	0.613082	0.18921	N	0.127471	T	0.28995	0.0720	L	0.28014	0.82	0.27086	N	0.962975	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.20874	-1.0262	10	0.11182	T	0.66	-21.224	9.1572	0.37000	0.2893:0.0:0.7107:0.0	.	194;194	P43007;B2R7N6	SATT_HUMAN;.	N	114;194	ENSP00000234256:D194N	ENSP00000234256:D194N	D	+	1	0	SLC1A4	65084600	0.000000	0.05858	0.009000	0.14445	0.366000	0.29705	0.383000	0.20651	0.399000	0.25367	0.650000	0.86243	GAT		0.408	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		4	32	0	0	0	1	0	4	32					A	65231096	G	A	65231096	3	1	48	1	0	0	0	0	1	0	0	0	14449	1058	37	1	590	1	SLC1A4	2	65231096	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	452028	65231096	177968277	532	5000										
ETAA1	54465	broad.mit.edu	37	chr2	67630550	67630550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattacataatatagttcccGaaatagataatgctacaaaa	4	7	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:67630550G>A	ENST00000272342.5	+	5	866	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	246						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						TATAGTTCCCGAAATAGATAA	0.313																																						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.(736-738)Gaa>Aaa		Ewing tumor-associated antigen 1							53	58	57					2																	67630550		2202	4299	6501	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67630550G>A	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.736G>A	2.37:g.67630550G>A	ENSP00000272342:p.Glu246Lys		Somatic				ETAA1_ENST00000462772.1_Intron	p.E246K	NM_019002.3	NP_061875.2	WXS	Illumina GAIIx	Phase_I	Q9NY74	ETAA1_HUMAN			5	866	+			246					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.736G>A	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	G	5.969	0.362680	0.11296	.	.	ENSG00000143971	ENST00000272342	T	0.22743	1.94	5.96	-0.382	0.12481	.	0.221863	0.39020	N	0.001482	T	0.15912	0.0383	L	0.49350	1.555	0.09310	N	1	B	0.24483	0.104	B	0.20384	0.029	T	0.15150	-1.0447	10	0.52906	T	0.07	-14.1731	6.5968	0.22679	0.332:0.1115:0.5565:0.0	.	246	Q9NY74	ETAA1_HUMAN	K	246	ENSP00000272342:E246K	ENSP00000272342:E246K	E	+	1	0	ETAA1	67484054	0.075000	0.21258	0.000000	0.03702	0.005000	0.04900	0.806000	0.27126	-0.079000	0.12707	-0.781000	0.03364	GAA		0.313	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		25	52	0	0	0	1	0	25	52					A	67630550	G	A	67630550	3	1	48	1	0	0	0	0	1	0	0	0	5269	1059	37	1	754	1	ETAA1	2	67630550	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2399454	67630550	175568823	533	5001										
PLEK	5341	broad.mit.edu	37	chr2	68607896	68607896	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accaaacagcaggaccacttCttccaggcagccttcctgga	8	15	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:68607896C>A	ENST00000234313.7	+	3	419	c.240C>A	c.(238-240)ttC>ttA	p.F80L		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	80	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGGACCACTTCTTCCAGGCAG	0.463																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(238-240)ttC>ttA		pleckstrin							131	131	131					2																	68607896		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68607896C>A	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"Pleckstrin homology (PH) domain containing"	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.240C>A	2.37:g.68607896C>A	ENSP00000234313:p.Phe80Leu		Somatic					p.F80L	NM_002664.2	NP_002655.2	WXS	Illumina GAIIx	Phase_I	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	3	419	+		Ovarian(717;0.0129)	80			PH 1.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.240C>A	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129288	0.56721	.	.	ENSG00000115956	ENST00000234313	T	0.11063	2.81	5.79	4.74	0.60224	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.184142	0.64402	D	0.000012	T	0.10551	0.0258	L	0.28458	0.855	0.54753	D	0.999984	B;B	0.32188	0.315;0.359	B;B	0.39185	0.281;0.293	T	0.08166	-1.0735	10	0.48119	T	0.1	.	9.8489	0.41043	0.0:0.8076:0.0:0.1924	.	98;80	Q59GZ2;P08567	.;PLEK_HUMAN	L	80	ENSP00000234313:F80L	ENSP00000234313:F80L	F	+	3	2	PLEK	68461400	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.252000	0.43196	2.746000	0.94184	0.650000	0.86243	TTC		0.463	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		62	102	1	0	6.2918e-36	1	9.04828e-36	62	102					A	68607896	C	A	68607896	3	1	48	1	0	0	0	0	1	0	0	0	12062	912	32	2	250	2	PLEK	2	68607896	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	977346	68607896	174591477	534	5002										
PLEK	5341	broad.mit.edu	37	chr2	68613778	68613778	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcagtggatggaactgctgAaaaccctttcctggacaacc	10	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:68613778A>G	ENST00000234313.7	+	5	796	c.617A>G	c.(616-618)gAa>gGa	p.E206G		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	206	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GGAACTGCTGAAAACCCTTTC	0.507																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(616-618)gAa>gGa		pleckstrin							158	161	160					2																	68613778		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68613778A>G	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"Pleckstrin homology (PH) domain containing"	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.617A>G	2.37:g.68613778A>G	ENSP00000234313:p.Glu206Gly		Somatic					p.E206G	NM_002664.2	NP_002655.2	WXS	Illumina GAIIx	Phase_I	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	5	796	+		Ovarian(717;0.0129)	206			DEP.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.617A>G	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.225114	0.39300	.	.	ENSG00000115956	ENST00000234313	T	0.21361	2.01	5.38	3.0	0.34707	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.195690	0.53938	D	0.000059	T	0.13286	0.0322	L	0.31120	0.905	0.51482	D	0.999923	B;B	0.12013	0.005;0.001	B;B	0.12837	0.008;0.008	T	0.09862	-1.0655	10	0.23891	T	0.37	.	7.8256	0.29313	0.7885:0.1397:0.0717:0.0	.	224;206	Q59GZ2;P08567	.;PLEK_HUMAN	G	206	ENSP00000234313:E206G	ENSP00000234313:E206G	E	+	2	0	PLEK	68467282	1.000000	0.71417	0.453000	0.27007	0.978000	0.69477	7.405000	0.80007	0.863000	0.35553	0.533000	0.62120	GAA		0.507	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		34	64	0	0	0	1	0	34	64					G	68613778	A	G	68613778	3	3	48	1	0	0	0	0	1	0	0	0	12062	246	9	4	635	4	PLEK	2	68613778	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	5882	68613778	174585595	535	5003										
PLEK	5341	broad.mit.edu	37	chr2	68622924	68622924	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagtggatcagagccatccaGatggcctcccgaactgggaa	13	11	1	2	rs149225658	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:68622924G>A	ENST00000234313.7	+	9	1208	c.1029G>A	c.(1027-1029)caG>caA	p.Q343Q		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	343	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GAGCCATCCAGATGGCCTCCC	0.537																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(1027-1029)caG>caA		pleckstrin							101	97	98					2																	68622924		2203	4300	6503	SO:0001819	synonymous_variant	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68622924G>A	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"Pleckstrin homology (PH) domain containing"	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.1029G>A	2.37:g.68622924G>A			Somatic					p.Q343Q	NM_002664.2	NP_002655.2	WXS	Illumina GAIIx	Phase_I	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	9	1208	+		Ovarian(717;0.0129)	343			PH 2.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Silent	SNP	ENST00000234313.7	37	c.1029G>A	CCDS1887.1																																																																																				0.537	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		16	41	0	0	0	1	0	16	41					A	68622924	G	A	68622924	2	1	48	1	0	0	0	0	0	0	0	1	12062	933	33	3		3	PLEK	2	68622924	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	9146	68622924	174576449	536	5004										
BMP10	27302	broad.mit.edu	37	chr2	69093648	69093648	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggtgaggaatggacacattGaagaggagggggtattttcg	17	3	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:69093648G>T	ENST00000295379.1	-	2	548	c.390C>A	c.(388-390)ttC>ttA	p.F130L		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	130					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TGGACACATTGAAGAGGAGGG	0.453																																						ENST00000295379.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						c.(388-390)ttC>ttA		bone morphogenetic protein 10							42	42	42					2																	69093648		2203	4300	6503	SO:0001583	missense	27302				activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	g.chr2:69093648G>T	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"Bone morphogenetic proteins", "Endogenous ligands"	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.390C>A	2.37:g.69093648G>T	ENSP00000295379:p.Phe130Leu		Somatic					p.F130L	NM_014482.1	NP_055297.1	WXS	Illumina GAIIx	Phase_I	O95393	BMP10_HUMAN			2	548	-			130					Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	c.390C>A	CCDS1890.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449371	0.84101	.	.	ENSG00000163217	ENST00000295379	D	0.91894	-2.93	5.94	5.94	0.96194	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96503	0.8859	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96481	0.9356	10	0.87932	D	0	.	19.3434	0.94355	0.0:0.0:1.0:0.0	.	130	O95393	BMP10_HUMAN	L	130	ENSP00000295379:F130L	ENSP00000295379:F130L	F	-	3	2	BMP10	68947152	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.791000	0.85805	2.812000	0.96745	0.557000	0.71058	TTC		0.453	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		17	25	1	0	6.94344e-10	1	8.4399e-10	17	25					T	69093648	G	T	69093648	3	4	48	1	0	0	0	0	1	0	0	0	1457	1281	45	2	888	2	BMP10	2	69093648	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	470724	69093648	174105725	537	5005										
NFU1	27247	broad.mit.edu	37	chr2	69633160	69633160	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaggagcacgtaccgtattCtagtatctaacaattcctta	7	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:69633160C>A	ENST00000410022.2	-	6	744	c.539G>T	c.(538-540)aGa>aTa	p.R180I	NFU1_ENST00000394305.1_Missense_Mutation_p.R39I|NFU1_ENST00000462320.1_Missense_Mutation_p.R39I|NFU1_ENST00000303698.3_Missense_Mutation_p.R156I|NFU1_ENST00000471185.1_5'UTR	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold	180	NifU.				iron-sulfur cluster assembly (GO:0016226)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron ion binding (GO:0005506)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						GTACCGTATTCTAGTATCTAA	0.323																																						ENST00000410022.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						c.(538-540)aGa>aTa		NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)							131	128	129					2																	69633160		2203	4300	6503	SO:0001583	missense	27247				iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding	g.chr2:69633160C>A	AJ132584	CCDS33217.1, CCDS42694.1, CCDS46315.1	2p15-p13	2014-07-03	2014-07-03	2006-10-24	ENSG00000169599	ENSG00000169599			16287	protein-coding gene	gene with protein product		608100	"HIRA interacting protein 5", "NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)"	HIRIP5		11342215, 12886008	Standard	NR_045631		Approved	CGI-33, NifU, NIFUC	uc002sfk.3	Q9UMS0	OTTHUMG00000152668	ENST00000410022.2:c.539G>T	2.37:g.69633160C>A	ENSP00000387219:p.Arg180Ile		Somatic				NFU1_ENST00000462320.1_Missense_Mutation_p.R39I|NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000303698.3_Missense_Mutation_p.R156I|NFU1_ENST00000394305.1_Missense_Mutation_p.R39I	p.R180I	NM_001002755.2	NP_001002755.1	WXS	Illumina GAIIx	Phase_I	Q9UMS0	NFU1_HUMAN			6	744	-			180			NifU.		B4DUL9|Q53QE5|Q6VNZ8|Q7Z5B1|Q7Z5B2|Q9Y322	Missense_Mutation	SNP	ENST00000410022.2	37	c.539G>T	CCDS33217.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112544	0.94339	.	.	ENSG00000169599	ENST00000410022;ENST00000303698;ENST00000394305;ENST00000462320;ENST00000450796;ENST00000484177	T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.07	5.07	0.68467	NIF system FeS cluster assembly, NifU, C-terminal (2);	0.094421	0.64402	D	0.000001	D	0.91112	0.7202	M	0.94101	3.495	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.987;0.991	D	0.93204	0.6594	10	0.87932	D	0	-16.8883	17.6738	0.88225	0.0:1.0:0.0:0.0	.	156;180	Q9UMS0-3;Q9UMS0	.;NFU1_HUMAN	I	180;156;39;39;39;39	ENSP00000387219:R180I;ENSP00000306965:R156I;ENSP00000377842:R39I;ENSP00000418598:R39I;ENSP00000415102:R39I;ENSP00000417693:R39I	ENSP00000306965:R156I	R	-	2	0	NFU1	69486664	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.102000	0.77005	2.637000	0.89404	0.585000	0.79938	AGA		0.323	NFU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327279.3	NM_015700		12	27	1	0	0.000978159	1	0.00102903	12	27					A	69633160	C	A	69633160	3	1	48	1	0	0	0	0	1	0	0	0	10395	913	32	2	237	2	NFU1	2	69633160	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	539512	69633160	173566213	538	5006										
TIA1	7072	broad.mit.edu	37	chr2	70441492	70441492	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatgcttacttaaatccttgCtggttccatgcctggccata	7	11	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:70441492C>A	ENST00000433529.2	-	12	1233	c.1023G>T	c.(1021-1023)caG>caT	p.Q341H	TIA1_ENST00000282574.4_Missense_Mutation_p.Q340H|TIA1_ENST00000445587.1_Intron|TIA1_ENST00000482876.1_5'Flank|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000415783.2_Missense_Mutation_p.Q330H	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	341					apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TAAATCCTTGCTGGTTCCATG	0.378																																						ENST00000433529.2																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						c.(1021-1023)caG>caT		TIA1 cytotoxic granule-associated RNA binding protein							111	98	103					2																	70441492		2203	4300	6503	SO:0001583	missense	7072				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	g.chr2:70441492C>A		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"RNA binding motif (RRM) containing"	11802	protein-coding gene	gene with protein product	"T-cell-restricted intracellular antigen-1", "nucleolysin TIA-1 isoform p40"	603518	"TIA1 cytotoxic granule-associated RNA-binding protein"			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.1023G>T	2.37:g.70441492C>A	ENSP00000401371:p.Gln341His		Somatic				TIA1_ENST00000445587.1_Intron|TIA1_ENST00000415783.2_Missense_Mutation_p.Q330H|TIA1_ENST00000282574.4_Missense_Mutation_p.Q340H|C2orf42_ENST00000470096.1_Intron	p.Q341H	NM_022173.2	NP_071505.2	WXS	Illumina GAIIx	Phase_I	P31483	TIA1_HUMAN			12	1233	-			341					Q53SS9	Missense_Mutation	SNP	ENST00000433529.2	37	c.1023G>T	CCDS1901.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419721	0.62622	.	.	ENSG00000116001	ENST00000433529;ENST00000415783;ENST00000477807;ENST00000282574;ENST00000454815	T;T;T;T	0.38077	1.61;1.81;1.7;1.16	5.07	-2.18	0.07037	.	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.91635	0.999;0.94	T	0.42716	-0.9435	10	0.20046	T	0.44	-3.1167	11.543	0.50677	0.0:0.482:0.0:0.518	.	330;341	P31483-2;P31483	.;TIA1_HUMAN	H	341;330;418;340;112	ENSP00000401371:Q341H;ENSP00000404023:Q330H;ENSP00000282574:Q340H;ENSP00000402263:Q112H	ENSP00000282574:Q340H	Q	-	3	2	TIA1	70294996	1.000000	0.71417	0.982000	0.44146	0.972000	0.66771	0.990000	0.29642	-0.309000	0.08779	-0.291000	0.09656	CAG		0.378	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037		14	21	1	0	6.72482e-11	1	8.31618e-11	14	21					A	70441492	C	A	70441492	3	1	48	1	0	0	0	0	1	0	0	0	15902	796	28	5	145	5	TIA1	2	70441492	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	808332	70441492	172757881	539	5007										
MPHOSPH10	10199	broad.mit.edu	37	chr2	71360050	71360050	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcaagagggattggcatcaAagttcacttctttaacaaaa	7	7	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71360050A>C	ENST00000244230.2	+	2	464	c.112A>C	c.(112-114)Aag>Cag	p.K38Q	MCEE_ENST00000244217.5_5'Flank|MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.K38Q|MPHOSPH10_ENST00000468427.1_3'UTR	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	38					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						ATTGGCATCAAAGTTCACTTC	0.313																																						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.(112-114)Aag>Cag		M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)							35	40	38					2																	71360050		2136	4269	6405	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71360050A>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.112A>C	2.37:g.71360050A>C	ENSP00000244230:p.Lys38Gln		Somatic				MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.K38Q|MPHOSPH10_ENST00000468427.1_3'UTR	p.K38Q	NM_005791.2	NP_005782.1	WXS	Illumina GAIIx	Phase_I	O00566	MPP10_HUMAN			2	464	+			38					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.112A>C	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.655363	0.29425	.	.	ENSG00000124383	ENST00000244230	T	0.09630	2.96	4.32	1.81	0.25067	.	0.546643	0.20687	N	0.087521	T	0.05731	0.0150	L	0.31578	0.945	0.80722	D	1	B;B	0.27625	0.183;0.116	B;B	0.24541	0.054;0.038	T	0.37979	-0.9682	10	0.13108	T	0.6	.	3.5489	0.07839	0.5949:0.1986:0.2065:0.0	.	38;38	B3KPV5;O00566	.;MPP10_HUMAN	Q	38	ENSP00000244230:K38Q	ENSP00000244230:K38Q	K	+	1	0	MPHOSPH10	71213558	1.000000	0.71417	0.279000	0.24732	0.986000	0.74619	4.872000	0.63050	0.269000	0.21961	0.454000	0.30748	AAG		0.313	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		10	30	0	0	0	1	0	10	30					C	71360050	A	C	71360050	3	2	48	1	0	0	0	0	1	0	0	0	9734	15	1	4	118	4	MPHOSPH10	2	71360050	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	918558	71360050	171839323	540	5008										
MPHOSPH10	10199	broad.mit.edu	37	chr2	71360080	71360080	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttaacaaaagtgctttatGactttaataaaatattagag	5	4	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71360080G>T	ENST00000244230.2	+	2	494	c.142G>T	c.(142-144)Gac>Tac	p.D48Y	MCEE_ENST00000244217.5_5'Flank|MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.D48Y|MPHOSPH10_ENST00000468427.1_3'UTR	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	48					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						AGTGCTTTATGACTTTAATAA	0.338																																						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.(142-144)Gac>Tac		M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)							32	37	35					2																	71360080		2181	4286	6467	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71360080G>T	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 106"	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.142G>T	2.37:g.71360080G>T	ENSP00000244230:p.Asp48Tyr		Somatic				MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.D48Y|MPHOSPH10_ENST00000468427.1_3'UTR	p.D48Y	NM_005791.2	NP_005782.1	WXS	Illumina GAIIx	Phase_I	O00566	MPP10_HUMAN			2	494	+			48					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.142G>T	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234266	0.79688	.	.	ENSG00000124383	ENST00000244230	T	0.08634	3.07	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.16364	-1.0405	10	0.72032	D	0.01	.	14.6902	0.69080	0.0:0.0:1.0:0.0	.	48;48	B3KPV5;O00566	.;MPP10_HUMAN	Y	48	ENSP00000244230:D48Y	ENSP00000244230:D48Y	D	+	1	0	MPHOSPH10	71213588	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.137000	0.94496	2.403000	0.81681	0.555000	0.69702	GAC		0.338	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		15	27	1	0	6.31663e-08	1	7.35827e-08	15	27					T	71360080	G	T	71360080	3	4	48	1	0	0	0	0	1	0	0	0	9734	1290	45	2	148	2	MPHOSPH10	2	71360080	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	30	71360080	171839293	541	5009										
MPHOSPH10	10199	broad.mit.edu	37	chr2	71360500	71360500	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacagcagagcaaggtgcaaAacaaaggacagggaaaacca	11	8	0	1	rs374115761		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71360500A>C	ENST00000244230.2	+	2	914	c.562A>C	c.(562-564)Aac>Cac	p.N188H	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.N188H	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	188					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						CAAGGTGCAAAACAAAGGACA	0.388																																						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.(562-564)Aac>Cac		M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)							83	89	87					2																	71360500		2203	4300	6503	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71360500A>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.562A>C	2.37:g.71360500A>C	ENSP00000244230:p.Asn188His		Somatic				MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.N188H	p.N188H	NM_005791.2	NP_005782.1	WXS	Illumina GAIIx	Phase_I	O00566	MPP10_HUMAN			2	914	+			188					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.562A>C	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	A	4.008	-0.001091	0.07819	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.10382	2.88;2.88	4.64	-2.74	0.05932	.	1.541490	0.03235	N	0.179501	T	0.08492	0.0211	L	0.38175	1.15	0.09310	N	1	P;P	0.39022	0.655;0.655	B;B	0.37601	0.254;0.174	T	0.14783	-1.0460	10	0.44086	T	0.13	.	2.4527	0.04522	0.5169:0.2281:0.1454:0.1096	.	188;188	B3KPV5;O00566	.;MPP10_HUMAN	H	188;48	ENSP00000244230:N188H;ENSP00000393034:N48H	ENSP00000244230:N188H	N	+	1	0	MPHOSPH10	71214008	0.079000	0.21365	0.000000	0.03702	0.218000	0.24690	1.346000	0.33964	-0.971000	0.03564	-2.394000	0.00226	AAC		0.388	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		23	58	0	0	0	1	0	23	58					C	71360500	A	C	71360500	3	2	48	1	0	0	0	0	1	0	0	0	9734	14	1	4	568	4	MPHOSPH10	2	71360500	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	420	71360500	171838873	542	5010										
MPHOSPH10	10199	broad.mit.edu	37	chr2	71368389	71368389	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgatgtagtacgtaaagaaAaacctaaagaggatgcatat	9	4	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71368389A>C	ENST00000244230.2	+	7	1688	c.1336A>C	c.(1336-1338)Aaa>Caa	p.K446Q		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	446					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						ACGTAAAGAAAAACCTAAAGA	0.343																																						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.(1336-1338)Aaa>Caa		M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)							140	151	147					2																	71368389		2203	4300	6503	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71368389A>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.1336A>C	2.37:g.71368389A>C	ENSP00000244230:p.Lys446Gln		Somatic					p.K446Q	NM_005791.2	NP_005782.1	WXS	Illumina GAIIx	Phase_I	O00566	MPP10_HUMAN			7	1688	+			446					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.1336A>C	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.652414	0.88056	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.11495	2.77;2.77	5.52	5.52	0.82312	.	0.091120	0.64402	D	0.000001	T	0.25082	0.0609	M	0.62154	1.92	0.51482	D	0.999922	D	0.59767	0.986	P	0.62813	0.907	T	0.03503	-1.1030	10	0.15952	T	0.53	.	13.8958	0.63770	1.0:0.0:0.0:0.0	.	446	O00566	MPP10_HUMAN	Q	446;306	ENSP00000244230:K446Q;ENSP00000393034:K306Q	ENSP00000244230:K446Q	K	+	1	0	MPHOSPH10	71221897	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	8.391000	0.90177	2.235000	0.73313	0.402000	0.26972	AAA		0.343	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		55	107	0	0	0	1	0	55	107					C	71368389	A	C	71368389	3	2	48	1	0	0	0	0	1	0	0	0	9734	15	1	4	1362	4	MPHOSPH10	2	71368389	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	7889	71368389	171830984	543	5011										
ZNF638	27332	broad.mit.edu	37	chr2	71654320	71654320	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttaaagaagagcttaattTtgttactgttgatgaagttg	9	4	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71654320T>G	ENST00000409544.1	+	24	5951	c.5321T>G	c.(5320-5322)tTt>tGt	p.F1774C	ZNF638_ENST00000264447.4_Missense_Mutation_p.F1774C|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.F714C	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1774					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						GAGCTTAATTTTGTTACTGTT	0.373																																						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.(5320-5322)tTt>tGt		zinc finger protein 638							104	109	107					2																	71654320		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71654320T>G	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.5321T>G	2.37:g.71654320T>G	ENSP00000386433:p.Phe1774Cys		Somatic				ZNF638_ENST00000409407.1_Missense_Mutation_p.F714C|ZNF638_ENST00000264447.4_Missense_Mutation_p.F1774C|ZNF638_ENST00000355812.3_3'UTR	p.F1774C	NM_001252612.1	NP_001239541.1	WXS	Illumina GAIIx	Phase_I	Q14966	ZN638_HUMAN			24	5951	+			1774					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.5321T>G	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.595074	0.66219	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.62364	0.03;0.03;0.39	5.71	5.71	0.89125	.	0.000000	0.53938	D	0.000058	T	0.67804	0.2932	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.67741	-0.5592	10	0.38643	T	0.18	-15.8809	13.9308	0.63994	0.0:0.0:0.0:1.0	.	1774;1774	Q14966-3;Q14966	.;ZN638_HUMAN	C	1774;1774;714	ENSP00000264447:F1774C;ENSP00000386433:F1774C;ENSP00000386813:F714C	ENSP00000264447:F1774C	F	+	2	0	ZNF638	71507828	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.904000	0.69886	2.169000	0.68431	0.533000	0.62120	TTT		0.373	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		35	64	0	0	0	1	0	35	64					G	71654320	T	G	71654320	3	3	48	1	0	0	0	0	1	0	0	0	18070	1841	64	4	5411	4	ZNF638	2	71654320	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	285931	71654320	171545053	544	5012										
DYSF	8291	broad.mit.edu	37	chr2	71801397	71801397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggctggaagttccacctcGagtaccgcaagacagatgcc	11	12	0	2	rs144599077		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71801397G>A	ENST00000258104.3	+	30	3521	c.3244G>A	c.(3244-3246)Gag>Aag	p.E1082K	DYSF_ENST00000410041.1_Missense_Mutation_p.E1100K|DYSF_ENST00000413539.2_Missense_Mutation_p.E1113K|DYSF_ENST00000394120.2_Missense_Mutation_p.E1083K|DYSF_ENST00000409762.1_Missense_Mutation_p.E1099K|DYSF_ENST00000409582.3_Missense_Mutation_p.E1099K|DYSF_ENST00000409744.1_Missense_Mutation_p.E1069K|DYSF_ENST00000409651.1_Missense_Mutation_p.E1114K|DYSF_ENST00000410020.3_Missense_Mutation_p.E1100K|DYSF_ENST00000429174.2_Missense_Mutation_p.E1082K|DYSF_ENST00000409366.1_Missense_Mutation_p.E1083K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1082	Arg-rich.				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						GTTCCACCTCGAGTACCGCAA	0.662																																						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.(3244-3246)Gag>Aag		dysferlin							72	86	81					2																	71801397		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71801397G>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.3244G>A	2.37:g.71801397G>A	ENSP00000258104:p.Glu1082Lys		Somatic				DYSF_ENST00000409582.3_Missense_Mutation_p.E1099K|DYSF_ENST00000410041.1_Missense_Mutation_p.E1100K|DYSF_ENST00000413539.2_Missense_Mutation_p.E1113K|DYSF_ENST00000409744.1_Missense_Mutation_p.E1069K|DYSF_ENST00000429174.2_Missense_Mutation_p.E1082K|DYSF_ENST00000409762.1_Missense_Mutation_p.E1099K|DYSF_ENST00000409651.1_Missense_Mutation_p.E1114K|DYSF_ENST00000410020.3_Missense_Mutation_p.E1100K|DYSF_ENST00000409366.1_Missense_Mutation_p.E1083K|DYSF_ENST00000394120.2_Missense_Mutation_p.E1083K	p.E1082K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	WXS	Illumina GAIIx	Phase_I	O75923	DYSF_HUMAN			30	3521	+			1082			Arg-rich.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.3244G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	9.280	1.047876	0.19827	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.53;-1.54;-1.54;-1.54;-1.53;-1.53;-1.54;-1.54	5.6	4.71	0.59529	Ferlin/Peroxisome membrane (1);	0.131392	0.56097	D	0.000025	T	0.41351	0.1155	N	0.00661	-1.28	0.33375	D	0.574052	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.31290	0.318;0.318;0.141;0.052;0.011;0.007;0.011;0.007;0.318;0.039;0.077;0.08;0.141;0.087	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.18561	0.022;0.022;0.022;0.014;0.009;0.002;0.009;0.006;0.022;0.004;0.014;0.022;0.022;0.01	T	0.59558	-0.7432	10	0.02654	T	1	-37.584	7.5925	0.28029	0.1754:0.0:0.8246:0.0	.	1114;1100;1083;1069;1100;1069;1099;1068;1113;1099;1082;1068;1083;1082	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	K	1113;1099;1099;1082;1082;1114;1083;1069;1083;1100;1100	ENSP00000407046:E1113K;ENSP00000387137:E1099K;ENSP00000386547:E1099K;ENSP00000398305:E1082K;ENSP00000258104:E1082K;ENSP00000386683:E1114K;ENSP00000377678:E1083K;ENSP00000386285:E1069K;ENSP00000386512:E1083K;ENSP00000386881:E1100K;ENSP00000386617:E1100K	ENSP00000258104:E1082K	E	+	1	0	DYSF	71654905	0.998000	0.40836	0.996000	0.52242	0.947000	0.59692	3.360000	0.52299	2.627000	0.88993	0.650000	0.86243	GAG		0.662	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		56	108	0	0	0	1	0	56	108					A	71801397	G	A	71801397	3	1	48	1	0	0	0	0	1	0	0	0	4861	1059	37	1	3554	1	DYSF	2	71801397	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	147077	71801397	171397976	545	5013										
DYSF	8291	broad.mit.edu	37	chr2	71825739	71825739	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaccagagccagaagacggTggtggtgaagaacaccctta	13	10	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71825739T>C	ENST00000258104.3	+	33	3843	c.3566T>C	c.(3565-3567)gTg>gCg	p.V1189A	DYSF_ENST00000410041.1_Missense_Mutation_p.V1207A|DYSF_ENST00000413539.2_Missense_Mutation_p.V1220A|DYSF_ENST00000394120.2_Missense_Mutation_p.V1190A|DYSF_ENST00000409762.1_Missense_Mutation_p.V1206A|DYSF_ENST00000409582.3_Missense_Mutation_p.V1206A|DYSF_ENST00000409744.1_Missense_Mutation_p.V1176A|DYSF_ENST00000409651.1_Missense_Mutation_p.V1221A|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Missense_Mutation_p.V1207A|DYSF_ENST00000429174.2_Missense_Mutation_p.V1189A|DYSF_ENST00000409366.1_Missense_Mutation_p.V1190A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1189	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						CAGAAGACGGTGGTGGTGAAG	0.607																																						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.(3565-3567)gTg>gCg		dysferlin							96	85	88					2																	71825739		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71825739T>C	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.3566T>C	2.37:g.71825739T>C	ENSP00000258104:p.Val1189Ala		Somatic				DYSF_ENST00000409582.3_Missense_Mutation_p.V1206A|DYSF_ENST00000410041.1_Missense_Mutation_p.V1207A|DYSF_ENST00000413539.2_Missense_Mutation_p.V1220A|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Missense_Mutation_p.V1176A|DYSF_ENST00000429174.2_Missense_Mutation_p.V1189A|DYSF_ENST00000409762.1_Missense_Mutation_p.V1206A|DYSF_ENST00000409651.1_Missense_Mutation_p.V1221A|DYSF_ENST00000410020.3_Missense_Mutation_p.V1207A|DYSF_ENST00000409366.1_Missense_Mutation_p.V1190A|DYSF_ENST00000394120.2_Missense_Mutation_p.V1190A	p.V1189A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	WXS	Illumina GAIIx	Phase_I	O75923	DYSF_HUMAN			33	3843	+			1189			C2 4.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.3566T>C	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.956898	0.53293	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.66	5.66	0.87406	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	0.54631	0.1870	N	0.11284	0.12	0.49483	D	0.999799	P;P;B;B;B;B;B;B;P;B;B;P;B;P	0.37663	0.55;0.55;0.364;0.407;0.109;0.109;0.109;0.03;0.55;0.06;0.06;0.55;0.407;0.604	B;B;B;B;B;B;B;B;B;B;B;B;B;P	0.45712	0.358;0.358;0.287;0.358;0.209;0.149;0.209;0.062;0.358;0.062;0.062;0.358;0.412;0.491	T	0.54708	-0.8253	10	0.20519	T	0.43	-12.7839	13.8382	0.63421	0.0:0.0:0.0:1.0	.	1221;1207;1190;1176;1207;1176;1206;1175;1220;1206;1189;1175;1190;1189	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	A	1220;1206;1206;1189;1189;1221;1190;1176;1190;1207;1207	ENSP00000407046:V1220A;ENSP00000387137:V1206A;ENSP00000386547:V1206A;ENSP00000398305:V1189A;ENSP00000258104:V1189A;ENSP00000386683:V1221A;ENSP00000377678:V1190A;ENSP00000386285:V1176A;ENSP00000386512:V1190A;ENSP00000386881:V1207A;ENSP00000386617:V1207A	ENSP00000258104:V1189A	V	+	2	0	DYSF	71679247	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	3.162000	0.50755	2.160000	0.67779	0.533000	0.62120	GTG		0.607	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		13	55	0	0	0	1	0	13	55					C	71825739	T	C	71825739	3	2	48	1	0	0	0	0	1	0	0	0	4861	1696	59	4	3888	4	DYSF	2	71825739	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	24342	71825739	171373634	546	5014										
EXOC6B	23233	broad.mit.edu	37	chr2	72740314	72740314	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagtgccatttcccacagttCatcaatgtaggctctattta	6	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:72740314C>A	ENST00000272427.6	-	11	1244	c.1114G>T	c.(1114-1116)Gaa>Taa	p.E372*	EXOC6B_ENST00000410104.1_Nonsense_Mutation_p.E372*	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	372					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TCCCACAGTTCATCAATGTAG	0.408																																						ENST00000272427.6																			0				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						c.(1114-1116)Gaa>Taa		exocyst complex component 6B							137	131	133					2																	72740314		1876	4107	5983	SO:0001587	stop_gained	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72740314C>A	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1114G>T	2.37:g.72740314C>A	ENSP00000272427:p.Glu372*		Somatic				EXOC6B_ENST00000410104.1_Nonsense_Mutation_p.E372*	p.E372*	NM_015189.1	NP_056004.1	WXS	Illumina GAIIx	Phase_I	Q9Y2D4	EXC6B_HUMAN			11	1244	-			372					B8ZZY3	Nonsense_Mutation	SNP	ENST00000272427.6	37	c.1114G>T	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	39	7.643233	0.98406	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	17.5901	0.87993	0.0:1.0:0.0:0.0	.	.	.	.	X	372	.	ENSP00000272427:E372X	E	-	1	0	EXOC6B	72593822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.531000	0.81973	2.734000	0.93682	0.563000	0.77884	GAA		0.408	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		21	30	1	0	6.33239e-15	1	8.29613e-15	21	30					A	72740314	C	A	72740314	4	1	48	1	0	0	0	0	0	1	0	0	5311	835	29	2	1369	2	EXOC6B	2	72740314	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	914575	72740314	170459059	547	5015										
EXOC6B	23233	broad.mit.edu	37	chr2	72945368	72945368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaccatcaccttgcagaatCgatagtggcttacttgaggc	9	12	1	2	rs199798987		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:72945368C>T	ENST00000272427.6	-	6	663	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	EXOC6B_ENST00000410104.1_Missense_Mutation_p.R178Q	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	178					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CTTGCAGAATCGATAGTGGCT	0.433																																						ENST00000272427.6																			0				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						c.(532-534)cGa>cAa		exocyst complex component 6B		C	GLN/ARG	1,3881		0,1,1940	143	139	140		533	5.4	1	2		140	6,8282		0,6,4138	yes	missense	EXOC6B	NM_015189.1	43	0,7,6078	TT,TC,CC		0.0724,0.0258,0.0575	probably-damaging	178/812	72945368	7,12163	1941	4144	6085	SO:0001583	missense	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72945368C>T	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.533G>A	2.37:g.72945368C>T	ENSP00000272427:p.Arg178Gln		Somatic				EXOC6B_ENST00000410104.1_Missense_Mutation_p.R178Q	p.R178Q	NM_015189.1	NP_056004.1	WXS	Illumina GAIIx	Phase_I	Q9Y2D4	EXC6B_HUMAN			6	663	-			178					B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	c.533G>A	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	36	5.682255	0.96774	2.58E-4	7.24E-4	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	D;D	0.99652	-6.3;-6.3	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.99504	0.9823	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.76071	0.921;0.987	D	0.99577	1.0972	10	0.34782	T	0.22	.	17.6989	0.88289	0.0:1.0:0.0:0.0	.	178;178	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	Q	178	ENSP00000272427:R178Q;ENSP00000386698:R178Q	ENSP00000272427:R178Q	R	-	2	0	EXOC6B	72798876	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.506000	0.84524	0.563000	0.77884	CGA		0.433	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		21	38	0	0	0	1	0	21	38					T	72945368	C	T	72945368	3	4	48	1	0	0	0	0	1	0	0	0	5311	884	31	1	1970	1	EXOC6B	2	72945368	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	205054	72945368	170254005	548	5016										
ALMS1	7840	broad.mit.edu	37	chr2	73675274	73675274	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgatactctcaaccaaaaGacattagcagatactcatct	4	11	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:73675274G>T	ENST00000264448.6	+	8	1728	c.1617G>T	c.(1615-1617)aaG>aaT	p.K539N	ALMS1_ENST00000409009.1_Missense_Mutation_p.K497N|ALMS1_ENST00000377715.1_Missense_Mutation_p.K539N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	539	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAACCAAAAGACATTAGCAG	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.(1615-1617)aaG>aaT		Alstrom syndrome 1							96	87	90					2																	73675274		1893	4115	6008	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73675274G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1617G>T	2.37:g.73675274G>T	ENSP00000264448:p.Lys539Asn		Somatic				ALMS1_ENST00000409009.1_Missense_Mutation_p.K497N|ALMS1_ENST00000377715.1_Missense_Mutation_p.K539N	p.K539N	NM_015120.4	NP_055935.4	WXS	Illumina GAIIx	Phase_I	Q8TCU4	ALMS1_HUMAN			8	1728	+			539			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.1617G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501285	0.26861	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.17854	3.14;3.13;2.25	4.69	-1.66	0.08265	.	0.866462	0.09636	N	0.775643	T	0.09949	0.0244	N	0.22421	0.69	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.15484	0.007;0.013	T	0.33343	-0.9872	10	0.49607	T	0.09	.	4.9891	0.14205	0.5278:0.1646:0.3077:0.0	.	497;539	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	N	497;539;539	ENSP00000386627:K497N;ENSP00000264448:K539N;ENSP00000366944:K539N	ENSP00000264448:K539N	K	+	3	2	ALMS1	73528782	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.070000	0.11523	-0.303000	0.08856	0.655000	0.94253	AAG		0.428	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		31	44	1	0	1.08312e-15	1	1.43e-15	31	44					T	73675274	G	T	73675274	3	4	48	1	0	0	0	0	1	0	0	0	535	933	33	2	1647	2	ALMS1	2	73675274	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	729906	73675274	169524099	549	5017										
ALMS1	7840	broad.mit.edu	37	chr2	73679645	73679645	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcacataaagagaaactcaaGatttcaactgtgcatatacc	5	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:73679645G>T	ENST00000264448.6	+	8	6099	c.5988G>T	c.(5986-5988)aaG>aaT	p.K1996N	ALMS1_ENST00000409009.1_Missense_Mutation_p.K1954N|ALMS1_ENST00000377715.1_Missense_Mutation_p.K1996N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1996	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGAAACTCAAGATTTCAACTG	0.413																																						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.(5986-5988)aaG>aaT		Alstrom syndrome 1							106	101	103					2																	73679645		1858	4096	5954	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73679645G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.5988G>T	2.37:g.73679645G>T	ENSP00000264448:p.Lys1996Asn		Somatic				ALMS1_ENST00000409009.1_Missense_Mutation_p.K1954N|ALMS1_ENST00000377715.1_Missense_Mutation_p.K1996N	p.K1996N	NM_015120.4	NP_055935.4	WXS	Illumina GAIIx	Phase_I	Q8TCU4	ALMS1_HUMAN			8	6099	+			1996			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.5988G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591101	0.46214	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.18016	3.14;3.14;2.24	4.35	2.53	0.30540	.	0.687100	0.13357	N	0.393913	T	0.31575	0.0801	L	0.57536	1.79	0.21802	N	0.999536	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.982;0.982;0.982	T	0.06391	-1.0829	10	0.48119	T	0.1	.	5.436	0.16482	0.1017:0.0:0.7006:0.1977	.	1996;1954;1996	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	N	1954;1996;1996	ENSP00000386627:K1954N;ENSP00000264448:K1996N;ENSP00000366944:K1996N	ENSP00000264448:K1996N	K	+	3	2	ALMS1	73533153	0.011000	0.17503	0.379000	0.26080	0.057000	0.15508	0.011000	0.13264	0.751000	0.32900	0.555000	0.69702	AAG		0.413	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		17	102	1	0	9.7654e-05	1	0.000105618	17	102					T	73679645	G	T	73679645	3	4	48	1	0	0	0	0	1	0	0	0	535	933	33	2	6018	2	ALMS1	2	73679645	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4371	73679645	169519728	550	5018										
NAT8	9027	broad.mit.edu	37	chr2	73868634	73868634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caagtaagagtatgagggttCgaggcagcttcagcaattgc	13	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:73868634C>T	ENST00000272425.3	-	2	271	c.122G>A	c.(121-123)cGa>cAa	p.R41Q		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TATGAGGGTTCGAGGCAGCTT	0.622																																						ENST00000272425.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(121-123)cGa>cAa		N-acetyltransferase 8 (GCN5-related, putative)							77	90	86					2																	73868634		2203	4300	6503	SO:0001583	missense	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868634C>T	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"N-acetyltransferase 8"			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.122G>A	2.37:g.73868634C>T	ENSP00000272425:p.Arg41Gln		Somatic					p.R41Q	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	WXS	Illumina GAIIx	Phase_I	Q9UHE5	NAT8_HUMAN			2	271	-			41						Missense_Mutation	SNP	ENST00000272425.3	37	c.122G>A	CCDS1926.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557698	0.27827	.	.	ENSG00000144035	ENST00000272425	T	0.31769	1.48	3.86	-4.38	0.03622	.	0.773939	0.11970	N	0.511880	T	0.16896	0.0406	L	0.33792	1.035	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.23904	-1.0175	10	0.22109	T	0.4	1.1326	6.4731	0.22020	0.0:0.4345:0.1211:0.4444	.	41	Q9UHE5	NAT8_HUMAN	Q	41	ENSP00000272425:R41Q	ENSP00000272425:R41Q	R	-	2	0	NAT8	73722142	0.000000	0.05858	0.004000	0.12327	0.177000	0.22998	-0.472000	0.06623	-1.159000	0.02807	-0.147000	0.13772	CGA		0.622	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		51	71	0	0	0	1	0	51	71					T	73868634	C	T	73868634	3	4	48	1	0	0	0	0	1	0	0	0	10188	884	31	1	565	1	NAT8	2	73868634	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	188989	73868634	169330739	551	5019										
DUSP11	8446	broad.mit.edu	37	chr2	73989834	73989834	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gataggagagtctggagtaaTtataaggataccaccttctt	10	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:73989834T>G	ENST00000272444.3	-	9	1129	c.1088A>C	c.(1087-1089)aAt>aCt	p.N363T	DUSP11_ENST00000480948.1_5'UTR	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	316					peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TCTGGAGTAATTATAAGGATA	0.502																																						ENST00000272444.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(1087-1089)aAt>aCt		dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)							99	97	98					2																	73989834		2203	4300	6503	SO:0001583	missense	8446				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding	g.chr2:73989834T>G	AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.1088A>C	2.37:g.73989834T>G	ENSP00000272444:p.Asn363Thr		Somatic				DUSP11_ENST00000480948.1_5'UTR	p.N363T	NM_003584.2	NP_003575.2	WXS	Illumina GAIIx	Phase_I	O75319	DUS11_HUMAN			9	1129	-			316					B2RCT8|Q6AI47|Q9BWE3	Missense_Mutation	SNP	ENST00000272444.3	37	c.1088A>C	CCDS1928.2	.	.	.	.	.	.	.	.	.	.	T	8.995	0.978650	0.18812	.	.	ENSG00000144048	ENST00000272444	.	.	.	4.85	-5.47	0.02600	.	1.371640	0.04190	N	0.328141	T	0.20941	0.0504	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18713	-1.0328	9	0.39692	T	0.17	3.0274	7.0438	0.25035	0.0:0.3176:0.2455:0.4369	.	316	O75319	DUS11_HUMAN	T	363	.	ENSP00000272444:N363T	N	-	2	0	DUSP11	73843342	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.692000	0.01918	-1.357000	0.02180	-1.213000	0.01624	AAT		0.502	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3			8	73	0	0	0	1	0	8	73					G	73989834	T	G	73989834	3	3	48	1	0	0	0	0	1	0	0	0	4813	1493	52	4	49	4	DUSP11	2	73989834	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	121200	73989834	169209539	552	5020										
DUSP11	8446	broad.mit.edu	37	chr2	74000942	74000942	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcaccattatctttattttCtttcaaaaacccattaacag	1	11	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74000942C>A	ENST00000272444.3	-	4	600	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	DUSP11_ENST00000480948.1_5'UTR|DUSP11_ENST00000443070.1_Nonsense_Mutation_p.E187*|DUSP11_ENST00000377706.4_Nonsense_Mutation_p.E140*	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	140	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TCTTTATTTTCTTTCAAAAAC	0.328																																						ENST00000443070.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(559-561)Gaa>Taa		dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)							118	129	126					2																	74000942		2203	4295	6498	SO:0001587	stop_gained	8446				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding	g.chr2:74000942C>A	AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.559G>T	2.37:g.74000942C>A	ENSP00000272444:p.Glu187*		Somatic				DUSP11_ENST00000377706.4_Nonsense_Mutation_p.E140*|DUSP11_ENST00000480948.1_5'UTR|DUSP11_ENST00000272444.3_Nonsense_Mutation_p.E187*	p.E187*			WXS	Illumina GAIIx	Phase_I	O75319	DUS11_HUMAN			4	564	-			140			Tyrosine-protein phosphatase.		B2RCT8|Q6AI47|Q9BWE3	Nonsense_Mutation	SNP	ENST00000272444.3	37	c.559G>T	CCDS1928.2	.	.	.	.	.	.	.	.	.	.	C	33	5.238334	0.95240	.	.	ENSG00000144048	ENST00000272444;ENST00000443070;ENST00000377706;ENST00000452812	.	.	.	4.95	4.95	0.65309	.	0.249564	0.46145	D	0.000303	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-8.9896	16.0911	0.81090	0.0:1.0:0.0:0.0	.	.	.	.	X	187;187;140;138	.	ENSP00000272444:E187X	E	-	1	0	DUSP11	73854450	0.993000	0.37304	1.000000	0.80357	0.977000	0.68977	3.118000	0.50414	2.745000	0.94114	0.655000	0.94253	GAA		0.328	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3			39	62	1	0	2.6416e-12	1	3.32596e-12	39	62					A	74000942	C	A	74000942	4	1	48	1	0	0	0	0	0	1	0	0	4813	922	32	2	598	2	DUSP11	2	74000942	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	11108	74000942	169198431	553	5021										
C2orf78	388960	broad.mit.edu	37	chr2	74043300	74043300	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcgatatgaaaactggattCtcttcctccaggaccctggg	9	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74043300C>A	ENST00000409561.1	+	3	2071	c.1950C>A	c.(1948-1950)ttC>ttA	p.F650L		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	650										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AAACTGGATTCTCTTCCTCCA	0.512																																						ENST00000409561.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(1948-1950)ttC>ttA		chromosome 2 open reading frame 78							50	51	51					2																	74043300		1875	4103	5978	SO:0001583	missense	388960							g.chr2:74043300C>A	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1950C>A	2.37:g.74043300C>A	ENSP00000387124:p.Phe650Leu		Somatic					p.F650L	NM_001080474.1	NP_001073943.1	WXS	Illumina GAIIx	Phase_I	A6NCI8	CB078_HUMAN			3	2071	+			650						Missense_Mutation	SNP	ENST00000409561.1	37	c.1950C>A	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.956740	0.00465	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.38077	1.16	4.73	1.89	0.25635	.	1.478270	0.04432	N	0.369457	T	0.16257	0.0391	N	0.04203	-0.255	0.21604	N	0.999627	B	0.02656	0.0	B	0.01281	0.0	T	0.22591	-1.0212	10	0.11794	T	0.64	-0.3841	3.901	0.09161	0.1673:0.5793:0.1618:0.0915	.	650	A6NCI8	CB078_HUMAN	L	650;620	ENSP00000387124:F650L	ENSP00000340692:F620L	F	+	3	2	C2orf78	73896808	0.000000	0.05858	0.147000	0.22382	0.011000	0.07611	-0.154000	0.10130	0.268000	0.21939	-0.261000	0.10672	TTC		0.512	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		19	61	1	0	1.15919e-05	1	1.28007e-05	19	61					A	74043300	C	A	74043300	3	1	48	1	0	0	0	0	1	0	0	0	2197	912	32	2	1960	2	C2orf78	2	74043300	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	42358	74043300	169156073	554	5022										
SLC4A5	57835	broad.mit.edu	37	chr2	74458402	74458402	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagacagagattcccgtcagGatgaagacgatgatgccggt	13	8	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74458402G>T	ENST00000423644.1	-	24	3026	c.2629C>A	c.(2629-2631)Cct>Act	p.P877T	SLC4A5_ENST00000377632.1_Silent_p.I936I|SLC4A5_ENST00000346834.4_Silent_p.I936I|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000357822.5_Silent_p.I936I|SLC4A5_ENST00000359484.4_Silent_p.I834I|SLC4A5_ENST00000377634.4_Silent_p.I936I|SLC4A5_ENST00000358683.4_Silent_p.I834I|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Silent_p.I936I					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTCCCGTCAGGATGAAGACGA	0.557																																						ENST00000423644.1																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2629-2631)Cct>Act		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							176	144	155					2																	74458402		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74458402G>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000423644.1:c.2629C>A	2.37:g.74458402G>T	ENSP00000395804:p.Pro877Thr		Somatic				SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Silent_p.I936I|SLC4A5_ENST00000377632.1_Silent_p.I936I|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Silent_p.I936I|SLC4A5_ENST00000358683.4_Silent_p.I834I|SLC4A5_ENST00000357822.5_Silent_p.I936I|SLC4A5_ENST00000346834.4_Silent_p.I936I|SLC4A5_ENST00000359484.4_Silent_p.I834I	p.P877T			WXS	Illumina GAIIx	Phase_I	Q9BY07	S4A5_HUMAN			24	3026	-			23						Missense_Mutation	SNP	ENST00000423644.1	37	c.2629C>A		.	.	.	.	.	.	.	.	.	.	G	16.56	3.158503	0.57368	.	.	ENSG00000188687	ENST00000423644;ENST00000425249	T;T	0.68903	-0.36;-0.09	4.61	3.72	0.42706	.	.	.	.	.	T	0.53110	0.1776	.	.	.	0.22940	N	0.998539	B	0.28713	0.22	B	0.22386	0.039	T	0.49173	-0.8967	8	0.62326	D	0.03	.	7.3027	0.26430	0.1995:0.0:0.8005:0.0	.	839	E7EQT3	.	T	877;839	ENSP00000395804:P877T;ENSP00000405678:P839T	ENSP00000395804:P877T	P	-	1	0	SLC4A5	74311910	0.950000	0.32346	1.000000	0.80357	0.988000	0.76386	0.097000	0.15168	1.121000	0.41925	0.655000	0.94253	CCT		0.557	SLC4A5-204	KNOWN	basic	protein_coding	protein_coding				21	50	1	0	5.26018e-13	1	6.70247e-13	21	50					T	74458402	G	T	74458402	3	4	48	1	0	0	0	0	1	0	0	0	14672	1164	41	2	633	2	SLC4A5	2	74458402	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	415102	74458402	168740971	555	5023										
SLC4A5	57835	broad.mit.edu	37	chr2	74477584	74477584	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaatgtggaagccatcataGaagtcacttgggaaccaggg	13	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74477584G>T	ENST00000377634.4	-	17	1938	c.1539C>A	c.(1537-1539)ttC>ttA	p.F513L	SLC4A5_ENST00000377632.1_Missense_Mutation_p.F513L|SLC4A5_ENST00000346834.4_Missense_Mutation_p.F513L|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.F513L|SLC4A5_ENST00000357822.5_Missense_Mutation_p.F513L|SLC4A5_ENST00000359484.4_Missense_Mutation_p.F449L|SLC4A5_ENST00000358683.4_Missense_Mutation_p.F449L|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.F513L					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCCATCATAGAAGTCACTTG	0.532											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1537-1539)ttC>ttA		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							185	174	177					2																	74477584		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74477584G>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"Solute carriers"	18168	protein-coding gene	gene with protein product		606757	"solute carrier family 4, sodium bicarbonate cotransporter, member 5"			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1539C>A	2.37:g.74477584G>T	ENSP00000366861:p.Phe513Leu		Somatic	OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1153	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.F513L|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.F513L|SLC4A5_ENST00000358683.4_Missense_Mutation_p.F449L|SLC4A5_ENST00000357822.5_Missense_Mutation_p.F513L|SLC4A5_ENST00000346834.4_Missense_Mutation_p.F513L|SLC4A5_ENST00000423644.1_Missense_Mutation_p.F513L|SLC4A5_ENST00000359484.4_Missense_Mutation_p.F449L	p.F513L	NM_133478.2	NP_597812.1	WXS	Illumina GAIIx	Phase_I	Q9BY07	S4A5_HUMAN			17	1936	-			513						Missense_Mutation	SNP	ENST00000377634.4	37	c.1539C>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828153	0.90955	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.54	5.54	0.83059	Bicarbonate transporter, C-terminal (1);	0.045667	0.85682	D	0.000000	D	0.86422	0.5929	M	0.79343	2.45	0.54753	D	0.999988	D;P;P;P;P	0.60160	0.987;0.813;0.929;0.813;0.913	P;P;P;P;P	0.58820	0.846;0.528;0.596;0.513;0.497	D	0.87017	0.2126	10	0.59425	D	0.04	.	17.0271	0.86450	0.0:0.0:1.0:0.0	.	513;513;449;513;513	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	L	513;513;513;449;513;449;513;513;513;513	ENSP00000377587:F513L;ENSP00000251768:F513L;ENSP00000352461:F449L;ENSP00000395804:F513L;ENSP00000351513:F449L;ENSP00000350475:F513L;ENSP00000366859:F513L;ENSP00000366861:F513L;ENSP00000405678:F513L	ENSP00000251768:F513L	F	-	3	2	SLC4A5	74331092	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.631000	0.46502	2.884000	0.98904	0.655000	0.94253	TTC		0.532	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			56	146	1	0	3.30226e-22	1	4.58371e-22	56	146					T	74477584	G	T	74477584	3	4	48	1	0	0	0	0	1	0	0	0	14672	933	33	2	1934	2	SLC4A5	2	74477584	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	19182	74477584	168721789	556	5024										
WBP1	23559	broad.mit.edu	37	chr2	74687176	74687176	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccggttcactgcttgaccttCgtgagtgacttgatgccctg	11	12	1	4	rs372471724		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74687176C>T	ENST00000233615.2	+	3	623	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	WBP1_ENST00000393972.3_Splice_Site_p.R151C|WBP1_ENST00000409737.1_Splice_Site_p.R114C|WBP1_ENST00000494741.1_3'UTR|MOGS_ENST00000462443.1_5'Flank	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	117							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GCTTGACCTTCGTGAGTGACT	0.527																																						ENST00000393972.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						c.e4+1		WW domain binding protein 1		C	CYS/ARG	0,4406		0,0,2203	90	90	90		349	3.7	1	2		90	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	WBP1	NM_012477.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	117/270	74687176	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	23559						WW domain binding	g.chr2:74687176C>T	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.349+1C>T	2.37:g.74687176C>T			Somatic				WBP1_ENST00000409737.1_Splice_Site_p.R114_splice|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000233615.2_Splice_Site_p.R117_splice	p.R151_splice			WXS	Illumina GAIIx	Phase_I	Q96G27	WBP1_HUMAN			4	654	+			117					B2RE02|O95637	Splice_Site	SNP	ENST00000233615.2	37	c.451_splice	CCDS1943.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383258	0.61845	0.0	1.16E-4	ENSG00000239779	ENST00000233615;ENST00000393972;ENST00000409737;ENST00000428943	.	.	.	4.66	3.74	0.42951	.	.	.	.	.	T	0.67739	0.2925	L	0.50333	1.59	0.51233	D	0.999916	D;D	0.89917	1.0;1.0	D;D	0.87578	0.986;0.998	T	0.69250	-0.5194	8	0.87932	D	0	-13.3417	10.0884	0.42432	0.1989:0.8011:0.0:0.0	.	114;117	B8ZZ95;Q96G27	.;WBP1_HUMAN	C	117;151;114;176	.	ENSP00000233615:R117C	R	+	1	0	WBP1	74540684	0.274000	0.24191	1.000000	0.80357	0.992000	0.81027	0.359000	0.20233	2.411000	0.81874	0.655000	0.94253	CGC		0.527	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477	Missense_Mutation	27	69	0	0	0	1	0	27	69					T	74687176	C	T	74687176	5	4	48	1	0	0	0	0	0	0	1	0	17272	898	31	1	359	1	WBP1	2	74687176	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	209592	74687176	168512197	557	5025										
MOGS	7841	broad.mit.edu	37	chr2	74688986	74688986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctagctctggggcccagtGcagctcatccaggctctctg	11	15	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74688986G>A	ENST00000233616.4	-	4	2092	c.1930C>T	c.(1930-1932)Cac>Tac	p.H644Y	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.H538Y|MOGS_ENST00000462443.1_5'Flank	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	644					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						GGGGCCCAGTGCAGCTCATCC	0.637																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(1930-1932)Cac>Tac		mannosyl-oligosaccharide glucosidase							33	39	37					2																	74688986		1990	4162	6152	SO:0001583	missense	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.chr2:74688986G>A	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"glucosidase I", "processing A-glucosidase I"	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1930C>T	2.37:g.74688986G>A	ENSP00000233616:p.His644Tyr		Somatic				MOGS_ENST00000452063.2_Missense_Mutation_p.H538Y|MOGS_ENST00000409065.1_3'UTR	p.H644Y	NM_006302.2	NP_006293.2	WXS	Illumina GAIIx	Phase_I	Q13724	MOGS_HUMAN			4	2092	-			644					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.1930C>T	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.348130	0.61183	.	.	ENSG00000115275	ENST00000233616;ENST00000452063	T;T	0.62498	0.02;0.02	5.03	5.03	0.67393	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	D	0.83390	0.5244	M	0.93106	3.38	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.86355	0.1713	10	0.52906	T	0.07	-16.7542	15.8931	0.79315	0.0:0.0:1.0:0.0	.	644	Q13724	MOGS_HUMAN	Y	644;538	ENSP00000233616:H644Y;ENSP00000388201:H538Y	ENSP00000233616:H644Y	H	-	1	0	MOGS	74542494	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	8.572000	0.90756	2.621000	0.88768	0.563000	0.77884	CAC		0.637	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		23	58	0	0	0	1	0	23	58					A	74688986	G	A	74688986	3	1	48	1	0	0	0	0	1	0	0	0	9706	1319	46	3	587	3	MOGS	2	74688986	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1810	74688986	168510387	558	5026										
TACR1	6869	broad.mit.edu	37	chr2	75425876	75425876	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agttcgtcactgtcctcattCttttgtgggctaagatgatc	9	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:75425876C>A	ENST00000305249.5	-	1	950	c.185G>T	c.(184-186)aGa>aTa	p.R62I	TACR1_ENST00000409848.3_Missense_Mutation_p.R62I	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	62					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)	TGTCCTCATTCTTTTGTGGGC	0.522																																					Pancreas(64;62 1268 3653 14826 43765)	ENST00000305249.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24						c.(184-186)aGa>aTa		tachykinin receptor 1	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						160	134	143					2																	75425876		2203	4300	6503	SO:0001583	missense	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75425876C>A	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.185G>T	2.37:g.75425876C>A	ENSP00000303522:p.Arg62Ile		Somatic				TACR1_ENST00000409848.3_Missense_Mutation_p.R62I	p.R62I	NM_001058.3	NP_001049.1	WXS	Illumina GAIIx	Phase_I	P25103	NK1R_HUMAN			1	950	-			62					A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	c.185G>T	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566981	0.86439	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.73575	-0.76;-0.76	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91005	0.7171	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93387	0.6748	10	0.87932	D	0	.	16.9498	0.86242	0.0:1.0:0.0:0.0	.	62	P25103	NK1R_HUMAN	I	62	ENSP00000303522:R62I;ENSP00000386448:R62I	ENSP00000303522:R62I	R	-	2	0	TACR1	75279384	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.774000	0.62339	2.854000	0.98071	0.655000	0.94253	AGA		0.522	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		17	38	1	0	4.7546e-09	1	5.67505e-09	17	38					A	75425876	C	A	75425876	3	1	48	1	0	0	0	0	1	0	0	0	15520	913	32	2	1062	2	TACR1	2	75425876	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	736890	75425876	167773497	559	5027										
MRPL19	9801	broad.mit.edu	37	chr2	75882241	75882241	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctaaacgctgggaacgtccaAattttaatattaaaggaatc	7	7	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:75882241A>C	ENST00000393909.2	+	6	734	c.709A>C	c.(709-711)Aat>Cat	p.N237H	MRPL19_ENST00000358788.6_Intron|MRPL19_ENST00000409374.1_Missense_Mutation_p.N237H	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	237					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						GGAACGTCCAAATTTTAATAT	0.323																																						ENST00000393909.2																			0				kidney(1)|large_intestine(1)|lung(6)	8						c.(709-711)Aat>Cat		mitochondrial ribosomal protein L19							42	42	42					2																	75882241		1802	4081	5883	SO:0001583	missense	9801				translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr2:75882241A>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.709A>C	2.37:g.75882241A>C	ENSP00000377486:p.Asn237His		Somatic				MRPL19_ENST00000358788.6_Intron|MRPL19_ENST00000409374.1_Missense_Mutation_p.N237H	p.N237H	NM_014763.3	NP_055578.2	WXS	Illumina GAIIx	Phase_I	P49406	RM19_HUMAN			6	734	+			237					Q53TX9|Q96Q52	Missense_Mutation	SNP	ENST00000393909.2	37	c.709A>C	CCDS1960.2	.	.	.	.	.	.	.	.	.	.	A	13.36	2.212926	0.39102	.	.	ENSG00000115364	ENST00000393909;ENST00000409374;ENST00000453233	.	.	.	5.31	-7.91	0.01165	.	0.400598	0.31134	N	0.008194	T	0.16599	0.0399	L	0.36672	1.1	0.24797	N	0.992722	P	0.35923	0.528	B	0.29524	0.103	T	0.03545	-1.1026	9	0.41790	T	0.15	1.0E-4	6.8817	0.24177	0.3045:0.3118:0.0:0.3837	.	237	P49406	RM19_HUMAN	H	237;237;24	.	ENSP00000377486:N237H	N	+	1	0	MRPL19	75735749	0.028000	0.19301	0.008000	0.14137	0.775000	0.43874	0.454000	0.21827	-1.567000	0.01671	0.533000	0.62120	AAT		0.323	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252256.1	NM_014763		18	20	0	0	0	1	0	18	20					C	75882241	A	C	75882241	3	2	48	1	0	0	0	0	1	0	0	0	9793	14	1	4	731	4	MRPL19	2	75882241	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	456365	75882241	167317132	560	5028										
CTNNA2	1496	broad.mit.edu	37	chr2	80646632	80646632	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctggaaaccaatgttccttTgctagttctcattgaggctg	9	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:80646632T>C	ENST00000402739.4	+	8	1201	c.1196T>C	c.(1195-1197)tTg>tCg	p.L399S	CTNNA2_ENST00000541047.1_Missense_Mutation_p.L399S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.L433S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.L399S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.L399S|CTNNA2_ENST00000466387.1_Missense_Mutation_p.L399S|CTNNA2_ENST00000343114.3_Missense_Mutation_p.L78S	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	399					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						AATGTTCCTTTGCTAGTTCTC	0.393																																						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.(1195-1197)tTg>tCg		catenin (cadherin-associated protein), alpha 2							122	118	119					2																	80646632		1976	4191	6167	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.chr2:80646632T>C		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1196T>C	2.37:g.80646632T>C	ENSP00000384638:p.Leu399Ser		Somatic				CTNNA2_ENST00000402739.4_Missense_Mutation_p.L399S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.L399S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.L433S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.L399S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.L399S|CTNNA2_ENST00000343114.3_Missense_Mutation_p.L78S	p.L399S			WXS	Illumina GAIIx	Phase_I	P26232	CTNA2_HUMAN			13	1920	+			399					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1196T>C		.	.	.	.	.	.	.	.	.	.	T	26.4	4.731038	0.89390	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	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	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000001	T	0.78336	0.4267	M	0.90814	3.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.997	T	0.82659	-0.0348	9	.	.	.	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	31;399;399;399	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	S	399;399;433;399;399;399;78;64	ENSP00000418191:L399S;ENSP00000419295:L399S;ENSP00000355398:L433S;ENSP00000384638:L399S;ENSP00000444675:L399S;ENSP00000441705:L399S;ENSP00000341500:L78S;ENSP00000386587:L64S	.	L	+	2	0	CTNNA2	80500143	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.308000	0.77769	0.533000	0.62120	TTG		0.393	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		24	51	0	0	0	1	0	24	51					C	80646632	T	C	80646632	3	2	48	1	0	0	0	0	1	0	0	0	4015	1821	63	4	1018	4	CTNNA2	2	80646632	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	4764391	80646632	162552741	561	5029										
CTNNA2	1496	broad.mit.edu	37	chr2	80874726	80874726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctagctggacagtgccacatCgcttatccaggcagctaaaa	9	12	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:80874726C>T	ENST00000402739.4	+	18	2596	c.2591C>T	c.(2590-2592)tCg>tTg	p.S864L	CTNNA2_ENST00000541047.1_Missense_Mutation_p.S816L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S850L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S816L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S771L|CTNNA2_ENST00000466387.1_Missense_Mutation_p.S816L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S495L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	864					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						AGTGCCACATCGCTTATCCAG	0.448																																						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.(2446-2448)tCg>tTg		catenin (cadherin-associated protein), alpha 2							112	110	111					2																	80874726		1960	4167	6127	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.chr2:80874726C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2591C>T	2.37:g.80874726C>T	ENSP00000384638:p.Ser864Leu		Somatic				CTNNA2_ENST00000402739.4_Missense_Mutation_p.S864L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S816L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S850L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S816L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S771L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S495L	p.S816L			WXS	Illumina GAIIx	Phase_I	P26232	CTNA2_HUMAN			22	3171	+			864					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2447C>T		.	.	.	.	.	.	.	.	.	.	C	25.3	4.628847	0.87560	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43	6.07	6.07	0.98685	.	0.142751	0.48767	D	0.000172	T	0.78413	0.4279	M	0.87038	2.855	0.80722	D	1	P;D;D;D	0.89917	0.926;1.0;1.0;1.0	P;D;D;D	0.97110	0.468;1.0;1.0;0.981	T	0.78907	-0.2019	9	.	.	.	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	448;864;771;816	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	L	816;816;850;864;816;771;495	ENSP00000418191:S816L;ENSP00000419295:S816L;ENSP00000355398:S850L;ENSP00000384638:S864L;ENSP00000444675:S816L;ENSP00000441705:S771L;ENSP00000341500:S495L	.	S	+	2	0	CTNNA2	80728237	1.000000	0.71417	0.915000	0.36163	0.993000	0.82548	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	TCG		0.448	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		33	69	0	0	0	1	0	33	69					T	80874726	C	T	80874726	3	4	48	1	0	0	0	0	1	0	0	0	4015	893	31	1	2305	1	CTNNA2	2	80874726	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	228094	80874726	162324647	562	5030										
KCMF1	56888	broad.mit.edu	37	chr2	85255047	85255047	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catgtttaaaaggaaattttCgaggtcgcagatataagtgt	10	4	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:85255047C>T	ENST00000409785.4	+	2	411	c.52C>T	c.(52-54)Cga>Tga	p.R18*		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	18							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						AGGAAATTTTCGAGGTCGCAG	0.353																																						ENST00000409785.3																			0				ovary(3)	3						c.(52-54)Cga>Tga		potassium channel modulatory factor 1							98	89	92					2																	85255047		1894	4148	6042	SO:0001587	stop_gained	56888					intracellular	ligase activity|zinc ion binding	g.chr2:85255047C>T	AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"Zinc fingers, ZZ-type"	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.52C>T	2.37:g.85255047C>T	ENSP00000386738:p.Arg18*		Somatic					p.R18*	NM_020122.4	NP_064507.3	WXS	Illumina GAIIx	Phase_I	Q9P0J7	KCMF1_HUMAN			2	411	+			18					Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Nonsense_Mutation	SNP	ENST00000409785.4	37	c.52C>T	CCDS46350.1	.	.	.	.	.	.	.	.	.	.	C	37	6.516813	0.97629	.	.	ENSG00000176407	ENST00000409785	.	.	.	5.46	5.46	0.80206	.	0.113394	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8395	16.7859	0.85574	0.0:1.0:0.0:0.0	.	.	.	.	X	18	.	ENSP00000386738:R18X	R	+	1	2	KCMF1	85108558	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.522000	0.45572	2.559000	0.86315	0.591000	0.81541	CGA		0.353	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		12	17	0	0	0	1	0	12	17					T	85255047	C	T	85255047	4	4	48	1	0	0	0	0	0	1	0	0	8009	876	31	1	58	1	KCMF1	2	85255047	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4380321	85255047	157944326	563	5031										
GNLY	10578	broad.mit.edu	37	chr2	85924740	85924740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctagagttacccagggcctcGtggccggagaaactgcccag	13	13	0	2	rs370130578		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:85924740G>A	ENST00000263863.4	+	4	495	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	GNLY_ENST00000409696.3_Missense_Mutation_p.V108M|GNLY_ENST00000524600.1_Missense_Mutation_p.V150M	NM_006433.3	NP_006424.2	P22749	GNLY_HUMAN	granulysin	123	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				cellular defense response (GO:0006968)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular space (GO:0005615)				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						CCAGGGCCTCGTGGCCGGAGA	0.567																																						ENST00000409696.3																			0				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(322-324)Gtg>Atg		granulysin		G	MET/VAL,MET/VAL	0,4406		0,0,2203	83	76	79		367,322	-3.8	0	2		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GNLY	NM_006433.3,NM_012483.2	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	123/146,108/131	85924740	1,13005	2203	4300	6503	SO:0001583	missense	10578				cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr2:85924740G>A	X54101	CCDS1984.1, CCDS46354.1	2p12-q11	2008-02-05			ENSG00000115523	ENSG00000115523			4414	protein-coding gene	gene with protein product	"T-lymphocyte activation gene 519"	188855		LAG2		2212946, 2434598	Standard	NM_012483		Approved	NKG5, LAG-2, D2S69E, TLA519	uc002sql.4	P22749	OTTHUMG00000130179	ENST00000263863.4:c.367G>A	2.37:g.85924740G>A	ENSP00000263863:p.Val123Met		Somatic				GNLY_ENST00000524600.1_Missense_Mutation_p.V150M|GNLY_ENST00000263863.4_Missense_Mutation_p.V123M	p.V108M	NM_012483.2	NP_036615.2	WXS	Illumina GAIIx	Phase_I	P22749	GNLY_HUMAN			5	604	+			123			Saposin B-type.		P09325|Q6GU08	Missense_Mutation	SNP	ENST00000263863.4	37	c.322G>A	CCDS1984.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.622686	0.00820	0.0	1.16E-4	ENSG00000115523	ENST00000263863;ENST00000524600;ENST00000409696	T;T;T	0.74842	-0.88;-0.88;-0.88	1.9	-3.8	0.04307	Saposin-like (2);Saposin-like type B, 2 (1);Saposin B (2);	2.194420	0.03361	N	0.197552	T	0.49440	0.1557	N	0.04508	-0.205	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.14578	0.007;0.011	T	0.32851	-0.9891	10	0.31617	T	0.26	.	5.1603	0.15058	0.2349:0.4956:0.2695:0.0	.	150;123	B4E3H9;P22749	.;GNLY_HUMAN	M	123;150;108	ENSP00000263863:V123M;ENSP00000436423:V150M;ENSP00000387116:V108M	ENSP00000263863:V123M	V	+	1	0	GNLY	85778251	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.527000	0.00946	-1.803000	0.01242	-2.236000	0.00289	GTG		0.567	GNLY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252497.1	NM_006433		22	38	0	0	0	1	0	22	38					A	85924740	G	A	85924740	3	1	48	1	0	0	0	0	1	0	0	0	6547	1145	40	1	392	1	GNLY	2	85924740	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	669693	85924740	157274633	564	5032										
C2orf51	200523	broad.mit.edu	37	chr2	88828941	88828941	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtcttcattgccatatagtCaaggtccccatcttgaaccg	7	12	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:88828941C>A	ENST00000303254.3	+	4	634	c.492C>A	c.(490-492)gtC>gtA	p.V164V		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	164						nucleus (GO:0005634)											GCCATATAGTCAAGGTCCCCA	0.522																																						ENST00000303254.3																			0											c.(490-492)gtC>gtA		testis expressed 37							81	76	78					2																	88828941		2203	4300	6503	SO:0001819	synonymous_variant	200523							g.chr2:88828941C>A	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"Testis-Specific Conserved gene 21kDa"		"chromosome 2 open reading frame 51"	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.492C>A	2.37:g.88828941C>A			Somatic					p.V164V	NM_152670.2	NP_689883.1	WXS	Illumina GAIIx	Phase_I					4	634	+									Silent	SNP	ENST00000303254.3	37	c.492C>A	CCDS2003.1																																																																																				0.522	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670		9	60	1	0	0.000673444	1	0.000709932	9	60					A	88828941	C	A	88828941	2	1	48	1	0	0	0	0	0	0	0	1	2175	813	29	2		2	C2orf51	2	88828941	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2904201	88828941	154370432	565	5033										
PROM2	150696	broad.mit.edu	37	chr2	95950732	95950732	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccagtataccaacaagctaCggcaggagttgcagagcctg	11	12	0	1	rs553459907		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:95950732C>T	ENST00000317620.9	+	15	1877	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	PROM2_ENST00000542147.1_Intron|PROM2_ENST00000403131.2_Missense_Mutation_p.R582W|PROM2_ENST00000317668.4_Missense_Mutation_p.R582W	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	582					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)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CAACAAGCTACGGCAGGAGTT	0.627													C|||	1	0.000199681	0	0	5008	,	,		17713	0.001		0	False		,,,				2504	0					ENST00000317620.9																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1744-1746)Cgg>Tgg		prominin 2							33	30	31					2																	95950732		2203	4299	6502	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95950732C>T	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.1744C>T	2.37:g.95950732C>T	ENSP00000318270:p.Arg582Trp		Somatic				PROM2_ENST00000317668.4_Missense_Mutation_p.R582W|PROM2_ENST00000542147.1_Intron|PROM2_ENST00000403131.2_Missense_Mutation_p.R582W	p.R582W	NM_001165978.1	NP_001159450.1	WXS	Illumina GAIIx	Phase_I	Q8N271	PROM2_HUMAN			15	1877	+			582					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.1744C>T	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	8.245	0.807747	0.16467	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620	T;T;T	0.44881	0.91;0.91;0.91	4.35	1.39	0.22231	.	0.549033	0.17264	N	0.180667	T	0.21427	0.0516	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16394	-1.0404	10	0.56958	D	0.05	-2.6235	8.3516	0.32305	0.0:0.5884:0.3185:0.0931	.	582	Q8N271	PROM2_HUMAN	W	582	ENSP00000385716:R582W;ENSP00000318520:R582W;ENSP00000318270:R582W	ENSP00000318270:R582W	R	+	1	2	PROM2	95314459	0.022000	0.18835	0.001000	0.08648	0.000000	0.00434	-0.029000	0.12329	-0.148000	0.11234	-1.598000	0.00824	CGG		0.627	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		8	9	0	0	0	1	0	8	9					T	95950732	C	T	95950732	3	4	48	1	0	0	0	0	1	0	0	0	12568	527	19	1	1802	1	PROM2	2	95950732	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	7121791	95950732	147248641	566	5034										
GPAT2	150763	broad.mit.edu	37	chr2	96690545	96690545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgatgcttgaagagcagcagCgttgccataatggccgtgct	13	9	0	3	rs370104470		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:96690545C>T	ENST00000434632.1	-	15	1863	c.1404G>A	c.(1402-1404)acG>acA	p.T468T	FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Silent_p.T468T|GPAT2_ENST00000377137.3_Silent_p.T468T|GPAT2_ENST00000453542.1_Silent_p.T397T			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	468					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						AGAGCAGCAGCGTTGCCATAA	0.657																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1402-1404)acG>acA		glycerol-3-phosphate acyltransferase 2, mitochondrial		C		1,4105		0,1,2052	120	128	126		1404	-6.6	0.4	2		126	0,8364		0,0,4182	no	coding-synonymous	GPAT2	NM_207328.2		0,1,6234	TT,TC,CC		0.0,0.0244,0.0080		468/796	96690545	1,12469	2053	4182	6235	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.chr2:96690545C>T	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1404G>A	2.37:g.96690545C>T			Somatic				GPAT2_ENST00000453542.1_Silent_p.T397T|GPAT2_ENST00000359548.4_Silent_p.T468T|GPAT2_ENST00000377137.3_Silent_p.T468T	p.T468T			WXS	Illumina GAIIx	Phase_I	Q6NUI2	GPAT2_HUMAN			15	1863	-			468					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Silent	SNP	ENST00000434632.1	37	c.1404G>A	CCDS42714.1																																																																																				0.657	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		80	166	0	0	0	1	0	80	166					T	96690545	C	T	96690545	2	4	48	1	0	0	0	0	0	0	0	1	6597	755	27	1		1	GPAT2	2	96690545	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	739813	96690545	146508828	567	5035										
ADRA2B	151	broad.mit.edu	37	chr2	96780585	96780585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acgggcggcacaggatcctcCggaaggcacggcggaagtcc	16	13	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:96780585C>T	ENST00000409345.3	-	1	1399	c.1304G>A	c.(1303-1305)cGg>cAg	p.R435Q		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	435					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CAGGATCCTCCGGAAGGCACG	0.632																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(1303-1305)cGg>cAg		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						29	36	33					2																	96780585		2146	4254	6400	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96780585C>T	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"GPCR / Class A : Adrenoceptors : alpha"	282	protein-coding gene	gene with protein product		104260	"adrenergic, alpha-2B-, receptor"	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.1304G>A	2.37:g.96780585C>T	ENSP00000387281:p.Arg435Gln		Somatic					p.R435Q	NM_000682.5	NP_000673.2	WXS	Illumina GAIIx	Phase_I	P18089	ADA2B_HUMAN			1	1399	-			438					Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.1304G>A	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.235052	0.58886	.	.	ENSG00000222040	ENST00000409345	T	0.39406	1.08	5.75	5.75	0.90469	.	.	.	.	.	T	0.26231	0.0640	N	0.10760	0.04	0.38389	D	0.945344	P	0.34892	0.474	B	0.32022	0.139	T	0.17440	-1.0369	9	0.36615	T	0.2	.	17.5004	0.87730	0.0:1.0:0.0:0.0	.	438	P18089	ADA2B_HUMAN	Q	435	ENSP00000387281:R435Q	ENSP00000387281:R435Q	R	-	2	0	ADRA2B	96144312	0.969000	0.33509	0.962000	0.40283	0.992000	0.81027	2.152000	0.42272	2.731000	0.93534	0.650000	0.86243	CGG		0.632	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			13	17	0	0	0	1	0	13	17					T	96780585	C	T	96780585	3	4	48	1	0	0	0	0	1	0	0	0	338	652	23	1	43	1	ADRA2B	2	96780585	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	90040	96780585	146418788	568	5036										
STARD7	56910	broad.mit.edu	37	chr2	96858113	96858113	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaggtaaaactcacctcatcAaatgacttgtggggacggat	11	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:96858113A>G	ENST00000337288.5	-	6	1220	c.837T>C	c.(835-837)ttT>ttC	p.F279F	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	279	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.					mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						TCACCTCATCAAATGACTTGT	0.488																																						ENST00000337288.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						c.(835-837)ttT>ttC		StAR-related lipid transfer (START) domain containing 7							169	161	164					2																	96858113		2203	4300	6503	SO:0001819	synonymous_variant	56910					mitochondrion		g.chr2:96858113A>G	AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"StAR-related lipid transfer (START) domain containing"	18063	protein-coding gene	gene with protein product			"START domain containing 7"				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.837T>C	2.37:g.96858113A>G			Somatic				STARD7_ENST00000462501.1_5'UTR	p.F279F	NM_020151.3	NP_064536.2	WXS	Illumina GAIIx	Phase_I	Q9NQZ5	STAR7_HUMAN			6	1220	-			279			START.		D3DXG9|Q53T44|Q6GU43|Q969M6	Silent	SNP	ENST00000337288.5	37	c.837T>C	CCDS2017.2																																																																																				0.488	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2			40	75	0	0	0	1	0	40	75					G	96858113	A	G	96858113	2	3	48	1	0	0	0	0	0	0	0	1	15277	127	5	4		4	STARD7	2	96858113	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	77528	96858113	146341260	569	5037										
KIAA1310	55683	broad.mit.edu	37	chr2	97279270	97279270	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acagcagggtcccagggcctCttcagtaggagagacaaggc	14	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:97279270C>A	ENST00000431828.1	-	6	826	c.750G>T	c.(748-750)aaG>aaT	p.K250N	KANSL3_ENST00000599854.1_Missense_Mutation_p.K163N|KANSL3_ENST00000440133.1_Missense_Mutation_p.K44N|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Missense_Mutation_p.K163N			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	250					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)											CCCAGGGCCTCTTCAGTAGGA	0.473																																						ENST00000599854.1																			0											c.(487-489)aaG>aaT		KAT8 regulatory NSL complex subunit 3							99	102	101					2																	97279270		1926	4137	6063	SO:0001583	missense	55683							g.chr2:97279270C>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.750G>T	2.37:g.97279270C>A	ENSP00000396749:p.Lys250Asn		Somatic				KANSL3_ENST00000441706.2_Missense_Mutation_p.K163N|KANSL3_ENST00000431828.1_Missense_Mutation_p.K250N|KANSL3_ENST00000440133.1_Missense_Mutation_p.K44N|KANSL3_ENST00000487070.1_5'UTR	p.K163N	NM_001115016.2	NP_001108488.1	WXS	Illumina GAIIx	Phase_I	Q9P2N6	K1310_HUMAN			6	956	-			250					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	c.489G>T	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961073	0.74016	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000441706;ENST00000440133;ENST00000444759;ENST00000452268;ENST00000448075;ENST00000418735	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.65	3.53	0.40419	.	0.000000	0.85682	D	0.000000	T	0.56217	0.1970	L	0.53617	1.68	0.80722	D	1	P;D;P;D	0.76494	0.911;0.999;0.946;0.999	B;D;P;D	0.83275	0.32;0.996;0.519;0.996	T	0.57063	-0.7875	10	0.54805	T	0.06	.	10.8045	0.46509	0.0:0.8187:0.0:0.1813	.	44;250;163;138	B4E1W4;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;.;.;.	N	163;138;250;163;44;44;163;44;44	ENSP00000396749:K250N;ENSP00000400678:K163N;ENSP00000406207:K44N;ENSP00000405988:K44N	ENSP00000346144:K163N	K	-	3	2	KIAA1310	96642997	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.476000	0.45171	1.387000	0.46486	0.467000	0.42956	AAG		0.473	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2	NM_017991		49	88	1	0	6.31075e-24	1	8.8404e-24	49	88					A	97279270	C	A	97279270	3	1	48	1	0	0	0	0	1	0	0	0	8231	912	32	2	1950	2	KIAA1310	2	97279270	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	421157	97279270	145920103	570	5038										
LMAN2L	81562	broad.mit.edu	37	chr2	97373532	97373532	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctggggttctctccactgTcagttcaaacaacttcaagg	8	11	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:97373532T>C	ENST00000264963.4	-	7	845	c.823A>G	c.(823-825)Aca>Gca	p.T275A	LMAN2L_ENST00000534882.1_Missense_Mutation_p.T130A|LMAN2L_ENST00000377079.4_Missense_Mutation_p.T286A|FER1L5_ENST00000457909.1_RNA|LMAN2L_ENST00000426463.2_Missense_Mutation_p.T141A|LMAN2L_ENST00000537039.1_Missense_Mutation_p.T137A	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	275					ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CTCTCCACTGTCAGTTCAAAC	0.453																																						ENST00000264963.4																			0				NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						c.(823-825)Aca>Gca		lectin, mannose-binding 2-like							108	108	108					2																	97373532		2203	4300	6503	SO:0001583	missense	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97373532T>C	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.823A>G	2.37:g.97373532T>C	ENSP00000264963:p.Thr275Ala		Somatic				LMAN2L_ENST00000537039.1_Missense_Mutation_p.T137A|LMAN2L_ENST00000534882.1_Missense_Mutation_p.T130A|LMAN2L_ENST00000426463.2_Missense_Mutation_p.T141A|LMAN2L_ENST00000377079.4_Missense_Mutation_p.T286A	p.T275A	NM_030805.3	NP_110432.1	WXS	Illumina GAIIx	Phase_I	Q9H0V9	LMA2L_HUMAN			7	845	-			275					B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	ENST00000264963.4	37	c.823A>G	CCDS2023.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.646812	0.47258	.	.	ENSG00000114988	ENST00000264963;ENST00000377079;ENST00000426463;ENST00000537039;ENST00000534882	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.106709	0.64402	D	0.000006	T	0.51652	0.1687	L	0.43923	1.385	0.58432	D	0.999997	B;B;P;B;B	0.38420	0.37;0.09;0.63;0.081;0.117	B;B;B;B;B	0.34873	0.191;0.158;0.191;0.061;0.119	T	0.49744	-0.8907	10	0.15499	T	0.54	.	14.8095	0.69982	0.0:0.0:0.0:1.0	.	130;148;141;286;275	B4DVH1;B4DI83;B4DSH3;Q9H0V9-2;Q9H0V9	.;.;.;.;LMA2L_HUMAN	A	275;286;141;137;130	ENSP00000264963:T275A;ENSP00000366280:T286A;ENSP00000396391:T141A;ENSP00000441701:T137A;ENSP00000438501:T130A	ENSP00000264963:T275A	T	-	1	0	LMAN2L	96737259	1.000000	0.71417	0.999000	0.59377	0.840000	0.47671	5.877000	0.69675	2.129000	0.65627	0.533000	0.62120	ACA		0.453	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		24	67	0	0	0	1	0	24	67					C	97373532	T	C	97373532	3	2	48	1	0	0	0	0	1	0	0	0	8848	1667	58	4	231	4	LMAN2L	2	97373532	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	94262	97373532	145825841	571	5039										
LMAN2L	81562	broad.mit.edu	37	chr2	97405653	97405653	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgaacgtttgacccgccccgActtgctgtggcccctgccca	10	18	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:97405653A>G	ENST00000264963.4	-	1	147	c.125T>C	c.(124-126)gTc>gCc	p.V42A	LMAN2L_ENST00000377079.4_Missense_Mutation_p.V42A|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000534882.1_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	42					ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						ACCCGCCCCGACTTGCTGTGG	0.632																																						ENST00000264963.4																			0				NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						c.(124-126)gTc>gCc		lectin, mannose-binding 2-like							80	78	79					2																	97405653		2203	4300	6503	SO:0001583	missense	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97405653A>G	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.125T>C	2.37:g.97405653A>G	ENSP00000264963:p.Val42Ala		Somatic				LMAN2L_ENST00000377079.4_Missense_Mutation_p.V42A|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000534882.1_5'UTR	p.V42A	NM_030805.3	NP_110432.1	WXS	Illumina GAIIx	Phase_I	Q9H0V9	LMA2L_HUMAN			1	147	-			42					B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	ENST00000264963.4	37	c.125T>C	CCDS2023.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.144192	0.37825	.	.	ENSG00000114988	ENST00000264963;ENST00000377079	T;T	0.43294	0.95;0.96	5.4	1.75	0.24633	.	0.446286	0.23254	N	0.050211	T	0.17789	0.0427	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09840	-1.0656	10	0.07813	T	0.8	-2.2852	8.543	0.33404	0.802:0.0:0.198:0.0	.	42;42	Q9H0V9-2;Q9H0V9	.;LMA2L_HUMAN	A	42	ENSP00000264963:V42A;ENSP00000366280:V42A	ENSP00000264963:V42A	V	-	2	0	LMAN2L	96769380	0.846000	0.29590	0.878000	0.34440	0.937000	0.57800	1.087000	0.30865	0.463000	0.27118	0.528000	0.53228	GTC		0.632	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		37	67	0	0	0	1	0	37	67					G	97405653	A	G	97405653	3	3	48	1	0	0	0	0	1	0	0	0	8848	275	10	4	990	4	LMAN2L	2	97405653	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	32121	97405653	145793720	572	5040										
ANKRD36B	57730	broad.mit.edu	37	chr2	98169646	98169646	+	RNA	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attacctgtcccagatttttCtccatcctttatttctgtgg	5	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:98169646C>A	ENST00000443455.1	-	0	1368							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		CCAGATTTTTCTCCATCCTTT	0.358																																						ENST00000443455.1																			0													ankyrin repeat domain 36B							32	33	32					2																	98169646		1806	4070	5876			57730							g.chr2:98169646C>A	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"Ankyrin repeat domain containing"	29333	protein-coding gene	gene with protein product	"melanoma-associated antigen", "CLL-associated antigen KW-1"		"KIAA1641"	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98169646C>A			Somatic								WXS	Illumina GAIIx	Phase_I	Q8N2N9	AN36B_HUMAN			0	1368	-								Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	RNA	SNP	ENST00000443455.1	37																																																																																						0.358	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		12	18	1	0	5.50884e-06	1	6.10489e-06	12	18					A	98169646	C	A	98169646	1	1	48	0	1	0	0	0	0	0	0	0	666	922	32	2		2	ANKRD36B	2	98169646	RNA	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	763993	98169646	145029727	573	5041										
ACTR1B	10120	broad.mit.edu	37	chr2	98277092	98277092	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctccagccatcacccgcatgTgcttcggccgcccgacactg	9	19	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:98277092T>C	ENST00000289228.5	-	3	347	c.131A>G	c.(130-132)cAc>cGc	p.H44R		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	44					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CACCCGCATGTGCTTCGGCCG	0.597																																						ENST00000289228.5																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						c.(130-132)cAc>cGc		ARP1 actin-related protein 1 homolog B, centractin beta (yeast)							102	101	102					2																	98277092		2203	4300	6503	SO:0001583	missense	10120					centrosome|dynactin complex	ATP binding|protein binding	g.chr2:98277092T>C	X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.131A>G	2.37:g.98277092T>C	ENSP00000289228:p.His44Arg		Somatic					p.H44R	NM_005735.3	NP_005726.1	WXS	Illumina GAIIx	Phase_I	P42025	ACTY_HUMAN			3	347	-			44					D3DVH2|Q53SK5|Q9BRB7	Missense_Mutation	SNP	ENST00000289228.5	37	c.131A>G	CCDS2033.1	.	.	.	.	.	.	.	.	.	.	.	23.8	4.454460	0.84209	.	.	ENSG00000115073	ENST00000289228	D	0.94280	-3.39	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.96617	0.8896	M	0.85777	2.775	0.80722	D	1	D	0.56035	0.974	D	0.68765	0.96	D	0.97166	0.9841	10	0.87932	D	0	.	13.5044	0.61476	0.0:0.0:0.0:1.0	.	44	P42025	ACTY_HUMAN	R	44	ENSP00000289228:H44R	ENSP00000289228:H44R	H	-	2	0	ACTR1B	97643524	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	8.016000	0.88706	2.094000	0.63399	0.459000	0.35465	CAC		0.597	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735		39	77	0	0	0	1	0	39	77					C	98277092	T	C	98277092	3	2	48	1	0	0	0	0	1	0	0	0	210	1696	59	4	1035	4	ACTR1B	2	98277092	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	107446	98277092	144922281	574	5042										
VWA3B	200403	broad.mit.edu	37	chr2	98928336	98928336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctggccactgaaagaagcGgacacgcaggattccagaga	12	10	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:98928336G>A	ENST00000477737.1	+	27	3780	c.3576G>A	c.(3574-3576)gcG>gcA	p.A1192A	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1192										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						TGAAAGAAGCGGACACGCAGG	0.602																																						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.(3574-3576)gcG>gcA		von Willebrand factor A domain containing 3B							25	31	29					2																	98928336		1918	4123	6041	SO:0001819	synonymous_variant	200403							g.chr2:98928336G>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.3576G>A	2.37:g.98928336G>A			Somatic				VWA3B_ENST00000490947.2_3'UTR	p.A1192A	NM_144992.4	NP_659429.4	WXS	Illumina GAIIx	Phase_I	Q502W6	VWA3B_HUMAN			27	3780	+			1192					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	37	c.3576G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	2.945	-0.218024	0.06101	.	.	ENSG00000168658	ENST00000473149	.	.	.	3.89	-1.6	0.08426	.	.	.	.	.	T	0.21962	0.0529	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28522	-1.0041	4	.	.	.	.	4.4435	0.11586	0.3337:0.0:0.3334:0.3329	.	.	.	.	R	603	.	.	G	+	1	0	VWA3B	98294768	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.039000	0.13884	-0.258000	0.09446	-1.478000	0.00992	GGA		0.602	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		7	17	0	0	0	1	0	7	17					A	98928336	G	A	98928336	2	1	48	1	0	0	0	0	0	0	0	1	17256	1103	39	1		1	VWA3B	2	98928336	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	651244	98928336	144271037	575	5043										
CNGA3	1261	broad.mit.edu	37	chr2	99006196	99006196	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taccgctggctgaccgccatCgccctgcctgtcttctataa	8	16	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:99006196C>T	ENST00000272602.2	+	5	564	c.525C>T	c.(523-525)atC>atT	p.I175I	CNGA3_ENST00000393504.1_Silent_p.I175I|CNGA3_ENST00000436404.2_Silent_p.I157I|CNGA3_ENST00000409937.1_Silent_p.I179I			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	175					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)			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						TGACCGCCATCGCCCTGCCTG	0.557																																						ENST00000393504.1																			0				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.(523-525)atC>atT		cyclic nucleotide gated channel alpha 3							120	107	112					2																	99006196		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99006196C>T	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.525C>T	2.37:g.99006196C>T			Somatic				CNGA3_ENST00000409937.1_Silent_p.I179I|CNGA3_ENST00000436404.2_Silent_p.I157I|CNGA3_ENST00000272602.2_Silent_p.I175I	p.I175I	NM_001298.2	NP_001289.1	WXS	Illumina GAIIx	Phase_I	Q16281	CNGA3_HUMAN			6	942	+			175					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.525C>T	CCDS2034.1																																																																																				0.557	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		48	84	0	0	0	1	0	48	84					T	99006196	C	T	99006196	2	4	48	1	0	0	0	0	0	0	0	1	3600	874	31	1		1	CNGA3	2	99006196	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	77860	99006196	144193177	576	5044										
UNC50	25972	broad.mit.edu	37	chr2	99227280	99227280	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgctggacatgggattctTtgagacaataaagcttctcc	10	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:99227280T>C	ENST00000357765.2	+	3	475	c.323T>C	c.(322-324)tTt>tCt	p.F108S	COA5_ENST00000409997.1_5'Flank|UNC50_ENST00000409347.1_Missense_Mutation_p.F125S|UNC50_ENST00000409975.1_Missense_Mutation_p.F125S|COA5_ENST00000483527.1_5'Flank|COA5_ENST00000328709.3_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	108					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ATGGGATTCTTTGAGACAATA	0.398																																						ENST00000409975.1																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						c.(373-375)tTt>tCt		unc-50 homolog (C. elegans)							349	332	337					2																	99227280		2203	4300	6503	SO:0001583	missense	25972				protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	g.chr2:99227280T>C		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.323T>C	2.37:g.99227280T>C	ENSP00000350409:p.Phe108Ser		Somatic				UNC50_ENST00000357765.2_Missense_Mutation_p.F108S|UNC50_ENST00000409347.1_Missense_Mutation_p.F125S	p.F125S			WXS	Illumina GAIIx	Phase_I	Q53HI1	UNC50_HUMAN			2	1504	+			108					D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	ENST00000357765.2	37	c.374T>C	CCDS2035.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.129516	0.37630	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.48	4.25	0.50352	.	0.431434	0.28940	N	0.013653	T	0.38585	0.1046	N	0.11724	0.165	0.43750	D	0.996257	B	0.17038	0.02	B	0.27500	0.08	T	0.20174	-1.0283	9	0.21014	T	0.42	0.5219	11.4735	0.50284	0.0:0.0:0.1502:0.8498	.	108	Q53HI1	UNC50_HUMAN	S	108;125;125	.	ENSP00000350409:F108S	F	+	2	0	UNC50	98593712	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.652000	0.61454	2.082000	0.62665	0.374000	0.22700	TTT		0.398	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044		4	143	0	0	0	1	0	4	143					C	99227280	T	C	99227280	3	2	48	1	0	0	0	0	1	0	0	0	17005	1841	64	4	329	4	UNC50	2	99227280	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	221084	99227280	143972093	577	5045										
MGAT4A	11320	broad.mit.edu	37	chr2	99294911	99294911	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctttcaaagcaaggaattCtcgttgataagcaatcagtt	7	7	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:99294911C>A	ENST00000264968.3	-	2	481	c.118G>T	c.(118-120)Gaa>Taa	p.E40*	MGAT4A_ENST00000393487.1_Nonsense_Mutation_p.E40*|MGAT4A_ENST00000409391.1_Nonsense_Mutation_p.E40*			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	40					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GCAAGGAATTCTCGTTGATAA	0.338																																						ENST00000393487.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						c.(118-120)Gaa>Taa		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A							84	80	82					2																	99294911		2203	4300	6503	SO:0001587	stop_gained	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99294911C>A	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7047	protein-coding gene	gene with protein product		604623	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.118G>T	2.37:g.99294911C>A	ENSP00000264968:p.Glu40*		Somatic				MGAT4A_ENST00000264968.2_Nonsense_Mutation_p.E40*|MGAT4A_ENST00000409391.1_Nonsense_Mutation_p.E40*	p.E40*	NM_012214.2	NP_036346.1	WXS	Illumina GAIIx	Phase_I	Q9UM21	MGT4A_HUMAN			3	431	-			40					B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Nonsense_Mutation	SNP	ENST00000264968.3	37	c.118G>T	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	C	37	6.132820	0.97310	.	.	ENSG00000071073	ENST00000393487;ENST00000264968;ENST00000409391	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	18.359	0.90368	0.0:1.0:0.0:0.0	.	.	.	.	X	40	.	ENSP00000264968:E40X	E	-	1	0	MGAT4A	98661343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.299000	0.78831	2.576000	0.86940	0.555000	0.69702	GAA		0.338	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		15	24	1	0	1.05317e-09	1	1.27574e-09	15	24					A	99294911	C	A	99294911	4	1	48	1	0	0	0	0	0	1	0	0	9554	922	32	2	1647	2	MGAT4A	2	99294911	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	67631	99294911	143904462	578	5046										
TXNDC9	10190	broad.mit.edu	37	chr2	99944079	99944079	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaagtctctttcactagggAtttctctgtattccccatgt	6	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:99944079A>G	ENST00000264255.3	-	3	482	c.227T>C	c.(226-228)aTc>aCc	p.I76T	TXNDC9_ENST00000434323.1_Missense_Mutation_p.I76T|TXNDC9_ENST00000409434.1_Missense_Mutation_p.I76T	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	76	Thioredoxin.				cell redox homeostasis (GO:0045454)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)				lung(1)	1						TTCACTAGGGATTTCTCTGTA	0.388																																						ENST00000264255.3																			0				lung(1)	1						c.(226-228)aTc>aCc		thioredoxin domain containing 9							147	135	139					2																	99944079		2203	4300	6503	SO:0001583	missense	10190				cell redox homeostasis		protein binding	g.chr2:99944079A>G	BC005968	CCDS2044.1	2q11.2	2008-02-05			ENSG00000115514	ENSG00000115514			24110	protein-coding gene	gene with protein product		612564				12477932	Standard	NM_005783		Approved	APACD	uc002szz.3	O14530	OTTHUMG00000130641	ENST00000264255.3:c.227T>C	2.37:g.99944079A>G	ENSP00000264255:p.Ile76Thr		Somatic				TXNDC9_ENST00000409434.1_Missense_Mutation_p.I76T	p.I76T	NM_005783.3	NP_005774.2	WXS	Illumina GAIIx	Phase_I	O14530	TXND9_HUMAN			3	482	-			76			Thioredoxin.		B2R9G8|D3DVI4|Q53HG4|Q53RV8|Q6NSF5|Q8TB70|Q9BRU6	Missense_Mutation	SNP	ENST00000264255.3	37	c.227T>C	CCDS2044.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.733424	0.48939	.	.	ENSG00000115514	ENST00000540776;ENST00000264255;ENST00000409434;ENST00000409705	T;T;T	0.18960	2.18;2.18;2.18	5.33	5.33	0.75918	Thioredoxin-like fold (2);	0.045517	0.85682	D	0.000000	T	0.35422	0.0931	M	0.87097	2.86	0.58432	D	0.999999	B;B	0.18863	0.031;0.026	B;B	0.30316	0.114;0.098	T	0.19679	-1.0298	9	.	.	.	-6.8588	15.6	0.76616	1.0:0.0:0.0:0.0	.	93;76	B7Z7A4;O14530	.;TXND9_HUMAN	T	93;76;76;76	ENSP00000264255:I76T;ENSP00000387275:I76T;ENSP00000386889:I76T	.	I	-	2	0	TXNDC9	99310511	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	8.890000	0.92477	2.141000	0.66446	0.455000	0.32223	ATC		0.388	TXNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253129.1	NM_005783		12	27	0	0	0	1	0	12	27					G	99944079	A	G	99944079	3	3	48	1	0	0	0	0	1	0	0	0	16817	333	12	4	465	4	TXNDC9	2	99944079	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	649168	99944079	143255294	579	5047										
REV1	51455	broad.mit.edu	37	chr2	100019523	100019523	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttttcttcttgtttcttttCttttctttcactgctgcctt	3	10	6	0	rs1046340		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:100019523C>A	ENST00000258428.3	-	20	3441	c.3213G>T	c.(3211-3213)aaG>aaT	p.K1071N	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.K1070N|RP11-527J8.1_ENST00000608144.1_RNA	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1071					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						tgtttcttttcttttctttCA	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.(3211-3213)aaG>aaT	Direct reversal of damage	REV1, polymerase (DNA directed)							52	49	50					2																	100019523		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100019523C>A	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.3213G>T	2.37:g.100019523C>A	ENSP00000258428:p.Lys1071Asn		Somatic				REV1_ENST00000393445.3_Missense_Mutation_p.K1070N|REV1_ENST00000465835.1_5'UTR	p.K1071N	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	WXS	Illumina GAIIx	Phase_I	Q9UBZ9	REV1_HUMAN			20	3441	-			1071					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.3213G>T	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.349900	0.41599	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.32753	1.44;1.44	5.95	3.2	0.36748	.	0.042710	0.85682	N	0.000000	T	0.49677	0.1571	M	0.71581	2.175	0.30452	N	0.775102	P;D	0.89917	0.808;1.0	B;D	0.91635	0.299;0.999	T	0.51196	-0.8736	10	0.21540	T	0.41	.	11.5511	0.50721	0.0:0.8056:0.0:0.1944	.	1071;1070	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	N	1070;1071	ENSP00000377091:K1070N;ENSP00000258428:K1071N	ENSP00000258428:K1071N	K	-	3	2	REV1	99385955	1.000000	0.71417	0.778000	0.31720	0.641000	0.38312	1.815000	0.38981	0.416000	0.25844	0.655000	0.94253	AAG		0.383	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		10	22	1	0	0.335167	1	0.336004	10	22					A	100019523	C	A	100019523	3	1	48	1	0	0	0	0	1	0	0	0	13254	912	32	2	558	2	REV1	2	100019523	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	75444	100019523	143179850	580	5048										
AFF3	3899	broad.mit.edu	37	chr2	100194797	100194797	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtctgaacttacatatcatcGaagacaagtttctgcctctt	6	10	4	2	rs142157056	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:100194797G>A	ENST00000409236.2	-	16	3022	c.2910C>T	c.(2908-2910)ttC>ttT	p.F970F	AFF3_ENST00000356421.2_Silent_p.F995F|AFF3_ENST00000317233.4_Silent_p.F970F|AFF3_ENST00000409579.1_Silent_p.F995F			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	970					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						ACATATCATCGAAGACAAGTT	0.542													G|||	11	0.00219649	0	0	5008	,	,		19643	0.0109		0	False		,,,				2504	0					ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2908-2910)ttC>ttT		AF4/FMR2 family, member 3		G	,	0,4406		0,0,2203	158	159	159		2985,2910	3.5	1	2	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AFF3	NM_001025108.1,NM_002285.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	995/1252,970/1227	100194797	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100194797G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2910C>T	2.37:g.100194797G>A			Somatic				AFF3_ENST00000409236.1_Silent_p.F970F|AFF3_ENST00000409579.1_Silent_p.F995F|AFF3_ENST00000356421.2_Silent_p.F995F	p.F970F	NM_002285.2	NP_002276.2	WXS	Illumina GAIIx	Phase_I	P51826	AFF3_HUMAN			17	3145	-			970					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.2910C>T	CCDS42723.1																																																																																				0.542	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		65	126	0	0	0	1	0	65	126					A	100194797	G	A	100194797	2	1	48	1	0	0	0	0	0	0	0	1	358	1049	37	1		1	AFF3	2	100194797	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	175274	100194797	143004576	581	5049										
AFF3	3899	broad.mit.edu	37	chr2	100199424	100199424	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaggggtgagatgggcgaccGaagcattttttcatttttat	13	5	1	1	rs190577667		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:100199424G>A	ENST00000409236.2	-	15	2741	c.2629C>T	c.(2629-2631)Cgg>Tgg	p.R877W	AFF3_ENST00000356421.2_Missense_Mutation_p.R902W|AFF3_ENST00000317233.4_Missense_Mutation_p.R877W|AFF3_ENST00000409579.1_Missense_Mutation_p.R902W			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	877					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						ATGGGCGACCGAAGCATTTTT	0.403																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2629-2631)Cgg>Tgg		AF4/FMR2 family, member 3							115	108	111					2																	100199424		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100199424G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2629C>T	2.37:g.100199424G>A	ENSP00000387207:p.Arg877Trp		Somatic				AFF3_ENST00000409236.1_Missense_Mutation_p.R877W|AFF3_ENST00000409579.1_Missense_Mutation_p.R902W|AFF3_ENST00000356421.2_Missense_Mutation_p.R902W	p.R877W	NM_002285.2	NP_002276.2	WXS	Illumina GAIIx	Phase_I	P51826	AFF3_HUMAN			16	2864	-			877					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2629C>T	CCDS42723.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.77	2.930084	0.52759	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	6.07	5.19	0.71726	.	0.000000	0.53938	D	0.000059	T	0.51890	0.1701	L	0.36672	1.1	0.42845	D	0.994069	B;B	0.26041	0.076;0.14	B;B	0.20577	0.03;0.029	T	0.53542	-0.8424	10	0.66056	D	0.02	.	13.1155	0.59297	0.0731:0.0:0.9269:0.0	.	877;902	P51826;P51826-2	AFF3_HUMAN;.	W	877;902;902;877	ENSP00000317421:R877W;ENSP00000348793:R902W;ENSP00000386834:R902W;ENSP00000387207:R877W	ENSP00000317421:R877W	R	-	1	2	AFF3	99565856	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.601000	0.54059	2.885000	0.99019	0.655000	0.94253	CGG		0.403	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		22	37	0	0	0	1	0	22	37					A	100199424	G	A	100199424	3	1	48	1	0	0	0	0	1	0	0	0	358	1057	37	1	1087	1	AFF3	2	100199424	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4627	100199424	142999949	582	5050										
AFF3	3899	broad.mit.edu	37	chr2	100210589	100210589	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggctgggctggcaaacgtCggggactttcccacagtcct	13	13	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:100210589C>T	ENST00000409236.2	-	13	1646	c.1534G>A	c.(1534-1536)Gac>Aac	p.D512N	AFF3_ENST00000356421.2_Missense_Mutation_p.D537N|AFF3_ENST00000317233.4_Missense_Mutation_p.D512N|AFF3_ENST00000409579.1_Missense_Mutation_p.D537N			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	512					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						TGGCAAACGTCGGGGACTTTC	0.547																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1534-1536)Gac>Aac		AF4/FMR2 family, member 3							122	125	124					2																	100210589		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210589C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1534G>A	2.37:g.100210589C>T	ENSP00000387207:p.Asp512Asn		Somatic				AFF3_ENST00000409236.1_Missense_Mutation_p.D512N|AFF3_ENST00000409579.1_Missense_Mutation_p.D537N|AFF3_ENST00000356421.2_Missense_Mutation_p.D537N	p.D512N	NM_002285.2	NP_002276.2	WXS	Illumina GAIIx	Phase_I	P51826	AFF3_HUMAN			14	1769	-			512					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1534G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	0.060	-1.226335	0.01518	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.87	3.99	0.46301	.	0.916266	0.09283	N	0.823402	T	0.40272	0.1110	N	0.17082	0.46	0.09310	N	1	P;B;B	0.44816	0.844;0.048;0.371	B;B;B	0.35114	0.196;0.007;0.034	T	0.10894	-1.0610	10	0.38643	T	0.18	.	6.5617	0.22489	0.1199:0.5829:0.2266:0.0707	.	665;512;537	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	N	512;537;537;512;512;665;537	ENSP00000317421:D512N;ENSP00000348793:D537N;ENSP00000386834:D537N;ENSP00000387207:D512N	ENSP00000317421:D512N	D	-	1	0	AFF3	99577021	0.003000	0.15002	0.094000	0.20943	0.292000	0.27327	0.711000	0.25764	2.781000	0.95711	0.655000	0.94253	GAC		0.547	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		61	120	0	0	0	1	0	61	120					T	100210589	C	T	100210589	3	4	48	1	0	0	0	0	1	0	0	0	358	884	31	1	2190	1	AFF3	2	100210589	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	11165	100210589	142988784	583	5051										
LONRF2	164832	broad.mit.edu	37	chr2	100917219	100917219	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaattttcatgcacatttgCtgtagctgaaaacagcactt	6	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:100917219C>T	ENST00000393437.3	-	4	1591	c.952G>A	c.(952-954)Gca>Aca	p.A318T	LONRF2_ENST00000409647.1_Missense_Mutation_p.A75T	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	318							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						TGCACATTTGCTGTAGCTGAA	0.353																																						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.(952-954)Gca>Aca		LON peptidase N-terminal domain and ring finger 2							78	71	73					2																	100917219		2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100917219C>T	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.952G>A	2.37:g.100917219C>T	ENSP00000377086:p.Ala318Thr		Somatic				LONRF2_ENST00000409647.1_Missense_Mutation_p.A75T	p.A318T	NM_198461.3	NP_940863.3	WXS	Illumina GAIIx	Phase_I	Q1L5Z9	LONF2_HUMAN			4	1591	-			318					B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.952G>A	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	2.299	-0.360736	0.05103	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.84516	-1.75;-1.86	4.2	2.37	0.29283	.	0.761654	0.11983	N	0.510529	T	0.69869	0.3159	N	0.08118	0	0.09310	N	0.999995	B	0.09022	0.002	B	0.06405	0.002	T	0.57963	-0.7720	10	0.46703	T	0.11	-1.7631	8.4461	0.32843	0.0:0.8105:0.0:0.1895	.	318	Q1L5Z9	LONF2_HUMAN	T	318;75	ENSP00000377086:A318T;ENSP00000386823:A75T	ENSP00000377086:A318T	A	-	1	0	LONRF2	100283651	1.000000	0.71417	0.021000	0.16686	0.003000	0.03518	2.253000	0.43205	0.235000	0.21160	-0.258000	0.10820	GCA		0.353	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		11	23	0	0	0	1	0	11	23					T	100917219	C	T	100917219	3	4	48	1	0	0	0	0	1	0	0	0	8904	797	28	3	1348	3	LONRF2	2	100917219	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	706630	100917219	142282154	584	5052										
CHST10	9486	broad.mit.edu	37	chr2	101010188	101010188	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaatttatccttaaatgcaGaaataagtctttcgaaggga	7	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:101010188G>A	ENST00000264249.3	-	7	975	c.590C>T	c.(589-591)tCt>tTt	p.S197F	CHST10_ENST00000409701.1_Missense_Mutation_p.S197F|CHST10_ENST00000542617.1_Missense_Mutation_p.S245F	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	197					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CTTAAATGCAGAAATAAGTCT	0.393																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(589-591)tCt>tTt		carbohydrate sulfotransferase 10							68	72	71					2																	101010188		2203	4300	6503	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101010188G>A	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"Sulfotransferases, membrane-bound"	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.590C>T	2.37:g.101010188G>A	ENSP00000264249:p.Ser197Phe		Somatic				CHST10_ENST00000542617.1_Missense_Mutation_p.S245F|CHST10_ENST00000409701.1_Missense_Mutation_p.S197F	p.S197F	NM_004854.4	NP_004845.1	WXS	Illumina GAIIx	Phase_I	O43529	CHSTA_HUMAN			7	975	-			197					Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.590C>T	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019592	0.93462	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;D;T	0.93659	-1.18;-3.26;-1.18	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.97745	0.9260	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97840	1.0268	10	0.87932	D	0	-39.9067	20.6208	0.99490	0.0:0.0:1.0:0.0	.	197	O43529	CHSTA_HUMAN	F	197;245;197	ENSP00000264249:S197F;ENSP00000438869:S245F;ENSP00000387309:S197F	ENSP00000264249:S197F	S	-	2	0	CHST10	100376620	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.624000	0.98398	2.882000	0.98803	0.655000	0.94253	TCT		0.393	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		30	57	0	0	0	1	0	30	57					A	101010188	G	A	101010188	3	1	48	1	0	0	0	0	1	0	0	0	3400	942	33	3	484	3	CHST10	2	101010188	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	92969	101010188	142189185	585	5053										
IL1R2	7850	broad.mit.edu	37	chr2	102626170	102626170	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaacctgacatggcataaaAatgactctgctaggacggtc	9	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:102626170A>C	ENST00000332549.3	+	3	443	c.214A>C	c.(214-216)Aat>Cat	p.N72H	IL1R2_ENST00000393414.2_Missense_Mutation_p.N72H|IL1R2_ENST00000441002.1_Missense_Mutation_p.N72H	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	72	Ig-like C2-type 1.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						ATGGCATAAAAATGACTCTGC	0.612																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(214-216)Aat>Cat		interleukin 1 receptor, type II	Anakinra(DB00026)						154	161	158					2																	102626170		2203	4300	6503	SO:0001583	missense	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102626170A>C	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.214A>C	2.37:g.102626170A>C	ENSP00000330959:p.Asn72His		Somatic				IL1R2_ENST00000393414.2_Missense_Mutation_p.N72H|IL1R2_ENST00000441002.1_Missense_Mutation_p.N72H	p.N72H	NM_004633.3	NP_004624.1	WXS	Illumina GAIIx	Phase_I	P27930	IL1R2_HUMAN			3	443	+			72			Ig-like C2-type 1.		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	c.214A>C	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.849964	0.71603	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	5.8	3.33	0.38152	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.443747	0.24608	N	0.037077	D	0.87224	0.6124	M	0.84326	2.69	0.09310	N	1	D	0.76494	0.999	D	0.66979	0.948	T	0.77247	-0.2658	10	0.25751	T	0.34	.	9.058	0.36416	0.6956:0.0:0.0:0.3044	.	72	P27930	IL1R2_HUMAN	H	72	ENSP00000330959:N72H;ENSP00000377066:N72H;ENSP00000408415:N72H;ENSP00000414611:N72H	ENSP00000330959:N72H	N	+	1	0	IL1R2	101992602	0.099000	0.21834	0.001000	0.08648	0.518000	0.34316	2.724000	0.47285	0.413000	0.25759	0.459000	0.35465	AAT		0.612	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		90	147	0	0	0	1	0	90	147					C	102626170	A	C	102626170	3	2	48	1	0	0	0	0	1	0	0	0	7668	14	1	4	220	4	IL1R2	2	102626170	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1615982	102626170	140573203	586	5054										
SLC9A4	389015	broad.mit.edu	37	chr2	103121726	103121726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttatagaatcacagcctgcGcagtaacaatgaaaaagtac	7	8	1	2	rs369636879		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:103121726G>A	ENST00000295269.4	+	4	1451	c.994G>A	c.(994-996)Gca>Aca	p.A332T		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	332					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						CACAGCCTGCGCAGTAACAAT	0.483																																						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.(994-996)Gca>Aca		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4		G	THR/ALA	0,4406		0,0,2203	95	82	87		994	5.4	0.2	2		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC9A4	NM_001011552.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	332/799	103121726	1,13005	2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103121726G>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.994G>A	2.37:g.103121726G>A	ENSP00000295269:p.Ala332Thr		Somatic					p.A332T	NM_001011552.3	NP_001011552.2	WXS	Illumina GAIIx	Phase_I	Q6AI14	SL9A4_HUMAN			4	1451	+			332					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.994G>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266361	0.80358	0.0	1.16E-4	ENSG00000180251	ENST00000295269	T	0.15952	2.38	5.38	5.38	0.77491	Cation/H+ exchanger (1);	0.049983	0.85682	D	0.000000	T	0.32763	0.0840	L	0.58583	1.82	0.51767	D	0.999932	D	0.67145	0.996	P	0.54210	0.745	T	0.01819	-1.1267	10	0.62326	D	0.03	.	18.4693	0.90767	0.0:0.0:1.0:0.0	.	332	Q6AI14	SL9A4_HUMAN	T	332	ENSP00000295269:A332T	ENSP00000295269:A332T	A	+	1	0	SLC9A4	102488158	1.000000	0.71417	0.196000	0.23383	0.732000	0.41865	6.492000	0.73654	2.687000	0.91594	0.484000	0.47621	GCA		0.483	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		9	22	0	0	0	1	0	9	22					A	103121726	G	A	103121726	3	1	48	1	0	0	0	0	1	0	0	0	14731	1087	38	1	1008	1	SLC9A4	2	103121726	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	495556	103121726	140077647	587	5055										
SLC9A4	389015	broad.mit.edu	37	chr2	103141567	103141567	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgatccgccgccagaacaccTtaagggagagcatgaggaaa	12	10	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:103141567T>G	ENST00000295269.4	+	10	2360	c.1903T>G	c.(1903-1905)Tta>Gta	p.L635V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	635					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						CCAGAACACCTTAAGGGAGAG	0.512																																						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.(1903-1905)Tta>Gta		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							150	154	153					2																	103141567		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103141567T>G		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.1903T>G	2.37:g.103141567T>G	ENSP00000295269:p.Leu635Val		Somatic					p.L635V	NM_001011552.3	NP_001011552.2	WXS	Illumina GAIIx	Phase_I	Q6AI14	SL9A4_HUMAN			10	2360	+			635					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1903T>G	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	T	7.716	0.696150	0.15106	.	.	ENSG00000180251	ENST00000295269	T	0.47177	0.85	5.84	2.17	0.27698	.	0.631744	0.16344	N	0.218546	T	0.34048	0.0884	L	0.52126	1.63	0.26481	N	0.975105	B	0.02656	0.0	B	0.06405	0.002	T	0.26326	-1.0106	10	0.15499	T	0.54	.	4.4344	0.11544	0.1394:0.3054:0.0:0.5552	.	635	Q6AI14	SL9A4_HUMAN	V	635	ENSP00000295269:L635V	ENSP00000295269:L635V	L	+	1	2	SLC9A4	102507999	0.921000	0.31238	0.194000	0.23346	0.050000	0.14768	0.220000	0.17660	0.136000	0.18733	0.523000	0.50628	TTA		0.512	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		83	116	0	0	0	1	0	83	116					G	103141567	T	G	103141567	3	3	48	1	0	0	0	0	1	0	0	0	14731	1606	56	4	1941	4	SLC9A4	2	103141567	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	19841	103141567	140057806	588	5056										
FHL2	2274	broad.mit.edu	37	chr2	106002940	106002940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttcttgccaaagagagattCgttgcaatggtggcagtcaa	11	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:106002940C>T	ENST00000409807.1	-	2	368	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	FHL2_ENST00000607522.1_Missense_Mutation_p.E12K|FHL2_ENST00000358129.4_Missense_Mutation_p.E12K|FHL2_ENST00000336660.5_Missense_Mutation_p.E12K|FHL2_ENST00000408995.1_Missense_Mutation_p.E12K|FHL2_ENST00000393353.3_Missense_Mutation_p.E12K|FHL2_ENST00000322142.8_Missense_Mutation_p.E12K|FHL2_ENST00000344213.4_Missense_Mutation_p.E122K|FHL2_ENST00000409177.1_Missense_Mutation_p.E128K|FHL2_ENST00000393352.3_Missense_Mutation_p.E12K			Q14192	FHL2_HUMAN	four and a half LIM domains 2	12					androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						AAGAGAGATTCGTTGCAATGG	0.498																																						ENST00000409177.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(382-384)Gaa>Aaa		four and a half LIM domains 2							92	90	91					2																	106002940		2203	4300	6503	SO:0001583	missense	2274				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding	g.chr2:106002940C>T		CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.34G>A	2.37:g.106002940C>T	ENSP00000386665:p.Glu12Lys		Somatic				FHL2_ENST00000393353.3_Missense_Mutation_p.E12K|FHL2_ENST00000393352.3_Missense_Mutation_p.E12K|FHL2_ENST00000322142.8_Missense_Mutation_p.E12K|FHL2_ENST00000344213.4_Missense_Mutation_p.E122K|FHL2_ENST00000607522.1_Missense_Mutation_p.E12K|FHL2_ENST00000358129.4_Missense_Mutation_p.E12K|FHL2_ENST00000336660.5_Missense_Mutation_p.E12K|FHL2_ENST00000408995.1_Missense_Mutation_p.E12K|FHL2_ENST00000409807.1_Missense_Mutation_p.E12K	p.E128K			WXS	Illumina GAIIx	Phase_I	Q14192	FHL2_HUMAN			2	503	-			12			LIM zinc-binding 2.		Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Missense_Mutation	SNP	ENST00000409807.1	37	c.382G>A	CCDS2070.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777283	0.70107	.	.	ENSG00000115641	ENST00000409177;ENST00000344213;ENST00000393353;ENST00000393352;ENST00000322142;ENST00000336660;ENST00000358129;ENST00000409807;ENST00000408995;ENST00000447958	D;D;D;D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.76	4.88	0.63580	Zinc finger, LIM-type (1);	0.240194	0.41396	N	0.000888	T	0.76271	0.3964	N	0.17345	0.48	0.54753	D	0.999983	B;B;B;B	0.11235	0.004;0.002;0.003;0.004	B;B;B;B	0.10450	0.003;0.003;0.003;0.005	T	0.72050	-0.4407	10	0.54805	T	0.06	.	15.2616	0.73628	0.0:0.9324:0.0:0.0676	.	12;12;122;12	Q2TSB7;Q2I5I4;Q2XQU9;Q14192	.;.;.;FHL2_HUMAN	K	12;122;12;12;12;12;12;12;12;12	ENSP00000386892:E12K;ENSP00000344266:E122K;ENSP00000377021:E12K;ENSP00000377020:E12K;ENSP00000322909:E12K;ENSP00000338270:E12K;ENSP00000350846:E12K;ENSP00000386665:E12K;ENSP00000386633:E12K	ENSP00000322909:E12K	E	-	1	0	FHL2	105369372	1.000000	0.71417	0.006000	0.13384	0.995000	0.86356	4.948000	0.63590	1.576000	0.49790	0.655000	0.94253	GAA		0.498	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1			25	64	0	0	0	1	0	25	64					T	106002940	C	T	106002940	3	4	48	1	0	0	0	0	1	0	0	0	5887	893	31	1	825	1	FHL2	2	106002940	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2861373	106002940	137196433	589	5057										
UXS1	80146	broad.mit.edu	37	chr2	106713223	106713223	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttttttgatgtctggttttCttttctgtgggtcatcctgg	10	7	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:106713223C>A	ENST00000409501.3	-	14	1139	c.1082G>T	c.(1081-1083)aGa>aTa	p.R361I	UXS1_ENST00000409032.1_Missense_Mutation_p.R193I|UXS1_ENST00000283148.7_Missense_Mutation_p.R366I|UXS1_ENST00000540130.1_Missense_Mutation_p.R304I			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	361					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						GTCTGGTTTTCTTTTCTGTGG	0.488																																						ENST00000283148.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(1096-1098)aGa>aTa		UDP-glucuronate decarboxylase 1							120	110	113					2																	106713223		1875	4116	5991	SO:0001583	missense	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106713223C>A	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	17729	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 6E, member 12"	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.1082G>T	2.37:g.106713223C>A	ENSP00000387019:p.Arg361Ile		Somatic				UXS1_ENST00000540130.1_Missense_Mutation_p.R304I|UXS1_ENST00000409501.3_Missense_Mutation_p.R361I|UXS1_ENST00000409032.1_Missense_Mutation_p.R193I	p.R366I	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	WXS	Illumina GAIIx	Phase_I	Q8NBZ7	UXS1_HUMAN			14	1194	-			361					Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.1097G>T	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792901	0.90453	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.66	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.91835	0.7416	H	0.96805	3.885	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	0.94242	0.7486	10	0.87932	D	0	-10.7715	14.4758	0.67546	0.0:0.9291:0.0:0.0708	.	366;361;366	Q8NBZ7-2;Q8NBZ7;A8K3Q3	.;UXS1_HUMAN;.	I	366;304;361;193	ENSP00000283148:R366I;ENSP00000438265:R304I;ENSP00000387019:R361I;ENSP00000387096:R193I	ENSP00000283148:R366I	R	-	2	0	UXS1	106079655	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.423000	0.80229	1.379000	0.46325	0.557000	0.71058	AGA		0.488	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		3	6	1	0	0.004672	1	0.00483628	3	6					A	106713223	C	A	106713223	3	1	48	1	0	0	0	0	1	0	0	0	17124	913	32	2	188	2	UXS1	2	106713223	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	710283	106713223	136486150	590	5058										
SLC5A7	60482	broad.mit.edu	37	chr2	108614432	108614432	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgttcagctcttttgcatttTtgtagggctggtaagtggga	13	6	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:108614432T>G	ENST00000264047.2	+	5	863	c.587T>G	c.(586-588)tTt>tGt	p.F196C	SLC5A7_ENST00000540517.1_Missense_Mutation_p.F91C|SLC5A7_ENST00000409059.1_Missense_Mutation_p.F196C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	196					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTTGCATTTTTGTAGGGCTG	0.398																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(586-588)tTt>tGt		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						189	170	176					2																	108614432		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108614432T>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.587T>G	2.37:g.108614432T>G	ENSP00000264047:p.Phe196Cys		Somatic				SLC5A7_ENST00000409059.1_Missense_Mutation_p.F196C|SLC5A7_ENST00000540517.1_Missense_Mutation_p.F91C	p.F196C	NM_021815.2	NP_068587.1	WXS	Illumina GAIIx	Phase_I	Q9GZV3	SC5A7_HUMAN			5	863	+			196					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.587T>G	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987272	0.74589	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.88046	-2.33;-2.33;-2.33	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.94647	0.8274	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95756	0.8796	10	0.87932	D	0	-31.7527	14.9248	0.70868	0.0:0.0:0.0:1.0	.	196	Q9GZV3	SC5A7_HUMAN	C	196;91;196	ENSP00000387346:F196C;ENSP00000445351:F91C;ENSP00000264047:F196C	ENSP00000264047:F196C	F	+	2	0	SLC5A7	107980864	1.000000	0.71417	0.752000	0.31206	0.844000	0.47949	8.040000	0.89188	1.937000	0.56155	0.533000	0.62120	TTT		0.398	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			27	52	0	0	0	1	0	27	52					G	108614432	T	G	108614432	3	3	48	1	0	0	0	0	1	0	0	0	14685	1841	64	4	601	4	SLC5A7	2	108614432	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1901209	108614432	134584941	591	5059										
SULT1C2	6819	broad.mit.edu	37	chr2	108921632	108921632	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgtgtctatttcagtggtTtggggttcctggtttgacca	12	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:108921632T>G	ENST00000437390.2	+	6	726	c.549T>G	c.(547-549)gtT>gtG	p.V183V	SULT1C2_ENST00000326853.5_Silent_p.V180V|SULT1C2_ENST00000251481.6_Silent_p.V169V|SULT1C2_ENST00000409880.1_Silent_p.V132V			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	175					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)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TTTCAGTGGTTTGGGGTTCCT	0.428																																						ENST00000326853.5																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(538-540)gtT>gtG		sulfotransferase family, cytosolic, 1C, member 2							239	222	228					2																	108921632		2203	4300	6503	SO:0001819	synonymous_variant	6819				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	g.chr2:108921632T>G	U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"Sulfotransferases, cytosolic"	11456	protein-coding gene	gene with protein product		602385	"sulfotransferase family, cytosolic, 1C, member 1"	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.549T>G	2.37:g.108921632T>G			Somatic				SULT1C2_ENST00000437390.2_Silent_p.V183V|SULT1C2_ENST00000409880.1_Silent_p.V132V|SULT1C2_ENST00000251481.6_Silent_p.V169V	p.V180V	NM_176825.2	NP_789795.1	WXS	Illumina GAIIx	Phase_I	O00338	ST1C2_HUMAN			7	993	+			169					Q069I8|Q08AS5|Q53S63	Silent	SNP	ENST00000437390.2	37	c.540T>G		.	.	.	.	.	.	.	.	.	.	T	7.546	0.661678	0.14645	.	.	ENSG00000198203	ENST00000409067	.	.	.	4.64	-9.27	0.00659	.	.	.	.	.	T	0.58836	0.2150	.	.	.	0.48288	D	0.99962	.	.	.	.	.	.	T	0.67673	-0.5610	4	.	.	.	.	14.2245	0.65850	0.098:0.6724:0.0:0.2296	.	.	.	.	V	166	.	.	L	+	1	2	SULT1C2	108288064	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-5.872000	0.00093	-1.968000	0.01006	-0.366000	0.07423	TTG		0.428	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825		43	65	0	0	0	1	0	43	65					G	108921632	T	G	108921632	2	3	48	1	0	0	0	0	0	0	0	1	15392	1828	64	4		4	SULT1C2	2	108921632	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	307200	108921632	134277741	592	5060										
GCC2	9648	broad.mit.edu	37	chr2	109086776	109086776	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catttgtagaacaagtagtaAatgaaaaagtcaaacactta	6	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:109086776A>C	ENST00000309863.6	+	6	1705	c.991A>C	c.(991-993)Aat>Cat	p.N331H		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	331					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						ACAAGTAGTAAATGAAAAAGT	0.289																																						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.(991-993)Aat>Cat		GRIP and coiled-coil domain containing 2							54	58	57					2																	109086776		2202	4290	6492	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.chr2:109086776A>C	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.991A>C	2.37:g.109086776A>C	ENSP00000307939:p.Asn331His		Somatic					p.N331H	NM_181453.3	NP_852118.1	WXS	Illumina GAIIx	Phase_I	Q8IWJ2	GCC2_HUMAN			6	1705	+			331					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.991A>C	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	8.905	0.957250	0.18507	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409896;ENST00000393318	T	0.32272	1.46	5.5	-0.0798	0.13709	.	0.902405	0.09704	N	0.766630	T	0.16938	0.0407	L	0.27053	0.805	0.09310	N	1	P	0.34780	0.468	B	0.33620	0.167	T	0.21449	-1.0245	10	0.46703	T	0.11	.	1.339	0.02150	0.3261:0.1567:0.3542:0.1631	.	331	Q8IWJ2	GCC2_HUMAN	H	331;331;294;76	ENSP00000307939:N331H	ENSP00000307939:N331H	N	+	1	0	GCC2	108453208	0.514000	0.26202	0.124000	0.21820	0.920000	0.55202	0.879000	0.28146	0.102000	0.17638	0.460000	0.39030	AAT		0.289	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		19	40	0	0	0	1	0	19	40					C	109086776	A	C	109086776	3	2	48	1	0	0	0	0	1	0	0	0	6294	14	1	4	1013	4	GCC2	2	109086776	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	165144	109086776	134112597	593	5061										
GCC2	9648	broad.mit.edu	37	chr2	109098819	109098819	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtctaatgccaaattattagAagtacagattttagaagtcc	7	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:109098819A>G	ENST00000309863.6	+	11	3971	c.3257A>G	c.(3256-3258)gAa>gGa	p.E1086G		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1086					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						AAATTATTAGAAGTACAGATT	0.328																																						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.(3256-3258)gAa>gGa		GRIP and coiled-coil domain containing 2							66	67	67					2																	109098819		2203	4296	6499	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.chr2:109098819A>G	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.3257A>G	2.37:g.109098819A>G	ENSP00000307939:p.Glu1086Gly		Somatic					p.E1086G	NM_181453.3	NP_852118.1	WXS	Illumina GAIIx	Phase_I	Q8IWJ2	GCC2_HUMAN			11	3971	+			1086					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.3257A>G	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454942	0.63290	.	.	ENSG00000135968	ENST00000309863	T	0.42131	0.98	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.44265	0.1285	M	0.65975	2.015	0.48762	D	0.999709	B	0.30851	0.297	B	0.33890	0.172	T	0.38779	-0.9645	10	0.36615	T	0.2	.	13.6724	0.62434	1.0:0.0:0.0:0.0	.	1086	Q8IWJ2	GCC2_HUMAN	G	1086	ENSP00000307939:E1086G	ENSP00000307939:E1086G	E	+	2	0	GCC2	108465251	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.216000	0.77974	1.974000	0.57490	0.397000	0.26171	GAA		0.328	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		17	28	0	0	0	1	0	17	28					G	109098819	A	G	109098819	3	3	48	1	0	0	0	0	1	0	0	0	6294	246	9	4	3299	4	GCC2	2	109098819	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	12043	109098819	134100554	594	5062										
RANBP2	5903	broad.mit.edu	37	chr2	109381241	109381241	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattggtgactccaaagaaaGaaggtcactgggattgtagt	12	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:109381241G>A	ENST00000283195.6	+	20	4372	c.4246G>A	c.(4246-4248)Gaa>Aaa	p.E1416K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1416					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						TCCAAAGAAAGAAGGTCACTG	0.398																																						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.(4246-4248)Gaa>Aaa		RAN binding protein 2							91	91	91					2																	109381241		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.chr2:109381241G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4246G>A	2.37:g.109381241G>A	ENSP00000283195:p.Glu1416Lys		Somatic					p.E1416K	NM_006267.4	NP_006258.3	WXS	Illumina GAIIx	Phase_I	P49792	RBP2_HUMAN			20	4372	+			1416					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.4246G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270075	0.40194	.	.	ENSG00000153201	ENST00000283195	T	0.57595	0.39	5.48	5.48	0.80851	Zinc finger, RanBP2-type (2);	.	.	.	.	T	0.46619	0.1402	L	0.58583	1.82	0.26596	N	0.973106	B	0.16166	0.016	B	0.21546	0.035	T	0.44050	-0.9353	9	0.06757	T	0.87	-22.9645	12.3296	0.55031	0.0779:0.0:0.9221:0.0	.	1416	P49792	RBP2_HUMAN	K	1416	ENSP00000283195:E1416K	ENSP00000283195:E1416K	E	+	1	0	RANBP2	108747673	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.392000	0.59659	2.554000	0.86153	0.655000	0.94253	GAA		0.398	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		26	59	0	0	0	1	0	26	59					A	109381241	G	A	109381241	3	1	48	1	0	0	0	0	1	0	0	0	13043	943	33	3	4324	3	RANBP2	2	109381241	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	282422	109381241	133818132	595	5063										
EDAR	10913	broad.mit.edu	37	chr2	109513452	109513452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggactccacagcatccagccGctcaatctgcaccagttttg	8	15	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:109513452G>A	ENST00000258443.2	-	12	1688	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	EDAR_ENST00000409271.1_Missense_Mutation_p.R452W|EDAR_ENST00000376651.1_Missense_Mutation_p.R452W	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	420	Death.		R -> Q (in ECTD10A and ECTD10B; abolishes NF-kappa-B activation and reduces JNK activation). {ECO:0000269|PubMed:10431241, ECO:0000269|PubMed:16435307, ECO:0000269|PubMed:18231121, ECO:0000269|PubMed:20979233}.		apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCATCCAGCCGCTCAATCTGC	0.572																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(1354-1356)Cgg>Tgg		ectodysplasin A receptor							96	73	81					2																	109513452		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109513452G>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"Tumor necrosis factor receptor superfamily"	2895	protein-coding gene	gene with protein product		604095	"ectodysplasin 1, anhidrotic receptor"	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.1258C>T	2.37:g.109513452G>A	ENSP00000258443:p.Arg420Trp		Somatic				EDAR_ENST00000376651.1_Missense_Mutation_p.R452W|EDAR_ENST00000258443.2_Missense_Mutation_p.R420W	p.R452W			WXS	Illumina GAIIx	Phase_I	Q9UNE0	EDAR_HUMAN			12	1797	-			420					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.1354C>T	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032018	0.54790	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.88509	-2.39;-2.39;-2.39	5.49	3.61	0.41365	Death (1);DEATH-like (2);	0.000000	0.85682	D	0.000000	D	0.89420	0.6710	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90665	0.4593	10	0.72032	D	0.01	-25.9781	13.6962	0.62580	0.0:0.0:0.6005:0.3995	.	452;420	E9PC98;Q9UNE0	.;EDAR_HUMAN	W	452;420;452	ENSP00000386371:R452W;ENSP00000258443:R420W;ENSP00000365839:R452W	ENSP00000258443:R420W	R	-	1	2	EDAR	108879884	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.618000	0.46393	1.288000	0.44600	0.650000	0.86243	CGG		0.572	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			8	14	0	0	0	1	0	8	14					A	109513452	G	A	109513452	3	1	48	1	0	0	0	0	1	0	0	0	4907	1086	38	1	92	1	EDAR	2	109513452	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	132211	109513452	133685921	596	5064										
ANKRD57	65124	broad.mit.edu	37	chr2	110373597	110373597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggaggaacgacctgttaaaGgccactcgcccttcacattg	11	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:110373597G>A	ENST00000356454.3	+	1	1687	c.1531G>A	c.(1531-1533)Ggc>Agc	p.G511S	SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	511																	ACCTGTTAAAGGCCACTCGCC	0.483																																						ENST00000356454.3																			0											c.(1531-1533)Ggc>Agc		sosondowah ankyrin repeat domain family member C							33	35	34					2																	110373597		2202	4300	6502	SO:0001583	missense	65124							g.chr2:110373597G>A	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1531G>A	2.37:g.110373597G>A	ENSP00000365830:p.Gly511Ser		Somatic					p.G511S	NM_023016.3	NP_075392.2	WXS	Illumina GAIIx	Phase_I	Q53LP3	ANR57_HUMAN			1	1687	+			511					Q8NE15|Q9H6U1	Missense_Mutation	SNP	ENST00000356454.3	37	c.1531G>A	CCDS33270.1	.	.	.	.	.	.	.	.	.	.	G	9.256	1.042087	0.19748	.	.	ENSG00000198142	ENST00000356454	T	0.47869	0.83	4.77	1.38	0.22167	.	2.002530	0.02338	N	0.074606	T	0.35219	0.0924	N	0.24115	0.695	0.23440	N	0.997679	B	0.17465	0.022	B	0.10450	0.005	T	0.15636	-1.0430	10	0.31617	T	0.26	-10.5797	6.6561	0.22988	0.5198:0.0:0.4802:0.0	.	511	Q53LP3	ANR57_HUMAN	S	511	ENSP00000365830:G511S	ENSP00000365830:G511S	G	+	1	0	ANKRD57	109730886	1.000000	0.71417	0.061000	0.19648	0.046000	0.14306	3.380000	0.52448	0.078000	0.16900	0.561000	0.74099	GGC		0.483	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		10	31	0	0	0	1	0	10	31					A	110373597	G	A	110373597	3	1	48	1	0	0	0	0	1	0	0	0	683	1000	35	3	1533	3	ANKRD57	2	110373597	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	860145	110373597	132825776	597	5065										
NPHP1	4867	broad.mit.edu	37	chr2	110881402	110881402	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctcatttcacccaagaagTcataggtctgctctgaaagg	8	10	5	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:110881402T>C	ENST00000393272.3	-	20	2262	c.2165A>G	c.(2164-2166)gAc>gGc	p.D722G	NPHP1_ENST00000445609.2_Missense_Mutation_p.D667G|NPHP1_ENST00000355301.4_Missense_Mutation_p.D604G|NPHP1_ENST00000417665.1_Missense_Mutation_p.D701G|AC013268.1_ENST00000390802.1_RNA|NPHP1_ENST00000316534.4_Missense_Mutation_p.D723G	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	722					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						ACCCAAGAAGTCATAGGTCTG	0.493																																						ENST00000316534.4																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(2167-2169)gAc>gGc		nephronophthisis 1 (juvenile)							88	78	81					2																	110881402		2203	4300	6503	SO:0001583	missense	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110881402T>C	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.2165A>G	2.37:g.110881402T>C	ENSP00000376953:p.Asp722Gly		Somatic				NPHP1_ENST00000417665.1_Missense_Mutation_p.D701G|NPHP1_ENST00000393272.3_Missense_Mutation_p.D722G|NPHP1_ENST00000445609.2_Missense_Mutation_p.D667G|NPHP1_ENST00000355301.4_Missense_Mutation_p.D604G	p.D723G			WXS	Illumina GAIIx	Phase_I	O15259	NPHP1_HUMAN			20	2241	-			722					O14837	Missense_Mutation	SNP	ENST00000393272.3	37	c.2168A>G	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388818	0.82902	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.75821	-0.96;-0.93;-0.96;-0.87;-0.97	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.86489	0.5945	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.998;1.0;0.999	D	0.88204	0.2886	10	0.72032	D	0.01	-26.3665	14.7916	0.69846	0.0:0.0:0.0:1.0	.	666;604;722;667;723	B4DQY0;O15259-3;O15259;O15259-2;O15259-4	.;.;NPHP1_HUMAN;.;.	G	723;667;722;604;701	ENSP00000313169:D723G;ENSP00000389879:D667G;ENSP00000376953:D722G;ENSP00000347452:D604G;ENSP00000402176:D701G	ENSP00000313169:D723G	D	-	2	0	NPHP1	110238691	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.447000	0.66606	2.172000	0.68678	0.379000	0.24179	GAC		0.493	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		13	59	0	0	0	1	0	13	59					C	110881402	T	C	110881402	3	2	48	1	0	0	0	0	1	0	0	0	10588	1667	58	4	37	4	NPHP1	2	110881402	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	507805	110881402	132317971	598	5066										
ANAPC1	64682	broad.mit.edu	37	chr2	112621315	112621315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gactgggtgatgaggttgagCgactctggctgtgaatggag	18	5	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:112621315C>T	ENST00000341068.3	-	9	1761	c.989G>A	c.(988-990)cGc>cAc	p.R330H		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	330					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						TGAGGTTGAGCGACTCTGGCT	0.473																																						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.(988-990)cGc>cAc		anaphase promoting complex subunit 1							66	68	67					2																	112621315		2203	4300	6503	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.chr2:112621315C>T	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.989G>A	2.37:g.112621315C>T	ENSP00000339109:p.Arg330His		Somatic					p.R330H	NM_022662.3	NP_073153.1	WXS	Illumina GAIIx	Phase_I	Q9H1A4	APC1_HUMAN			9	1761	-			330					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.989G>A	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607639	0.66558	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.68	5.68	0.88126	.	0.169942	0.24879	N	0.034861	T	0.75273	0.3827	L	0.46157	1.445	0.58432	D	0.999997	D	0.76494	0.999	D	0.76071	0.987	T	0.72934	-0.4141	9	0.42905	T	0.14	-24.2012	19.7838	0.96428	0.0:1.0:0.0:0.0	.	330	Q9H1A4	APC1_HUMAN	H	330	.	ENSP00000339109:R330H	R	-	2	0	ANAPC1	112337786	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	6.164000	0.71885	2.664000	0.90586	0.650000	0.86243	CGC		0.473	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		26	45	0	0	0	1	0	26	45					T	112621315	C	T	112621315	3	4	48	1	0	0	0	0	1	0	0	0	598	768	27	1	5005	1	ANAPC1	2	112621315	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1739913	112621315	130578058	599	5067										
MERTK	10461	broad.mit.edu	37	chr2	112779123	112779123	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatggatcgccatagaaagtCttgcagaccgagtctacaca	9	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:112779123C>A	ENST00000295408.4	+	17	2571	c.2314C>A	c.(2314-2316)Ctt>Att	p.L772I	MERTK_ENST00000421804.2_Missense_Mutation_p.L772I|MERTK_ENST00000409780.1_Missense_Mutation_p.L596I			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	772	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CATAGAAAGTCTTGCAGACCG	0.458																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2314-2316)Ctt>Att		c-mer proto-oncogene tyrosine kinase							118	114	115					2																	112779123		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112779123C>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2314C>A	2.37:g.112779123C>A	ENSP00000295408:p.Leu772Ile		Somatic				MERTK_ENST00000421804.2_Missense_Mutation_p.L772I|MERTK_ENST00000409780.1_Missense_Mutation_p.L596I	p.L772I			WXS	Illumina GAIIx	Phase_I	Q12866	MERTK_HUMAN			17	2571	+			772			Protein kinase.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2314C>A	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622814	0.87460	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.24	5.24	0.73138	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.30043	U	0.010547	D	0.87822	0.6274	L	0.39085	1.19	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	D	0.88794	0.3280	10	0.87932	D	0	-23.652	19.012	0.92877	0.0:1.0:0.0:0.0	.	772	Q12866	MERTK_HUMAN	I	772;772;408;596;96	ENSP00000295408:L772I;ENSP00000389152:L772I;ENSP00000387277:L596I;ENSP00000412660:L96I	ENSP00000295408:L772I	L	+	1	0	MERTK	112495594	1.000000	0.71417	0.921000	0.36526	0.994000	0.84299	5.762000	0.68809	2.724000	0.93272	0.563000	0.77884	CTT		0.458	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			18	70	1	0	5.35267e-07	1	6.09026e-07	18	70					A	112779123	C	A	112779123	3	1	48	1	0	0	0	0	1	0	0	0	9488	913	32	2	2380	2	MERTK	2	112779123	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	157808	112779123	130420250	600	5068										
ZC3H8	84524	broad.mit.edu	37	chr2	112991726	112991726	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttcctttcaagaaaatattTacaaatttgttttcccttgc	3	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:112991726T>G	ENST00000409573.2	-	5	721	c.592A>C	c.(592-594)Aaa>Caa	p.K198Q	ZC3H8_ENST00000272570.5_Missense_Mutation_p.K198Q|ZC3H8_ENST00000476902.1_5'Flank			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	198					apoptotic process (GO:0006915)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to antibiotic (GO:0046677)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|T cell homeostasis (GO:0043029)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						AGAAAATATTTACAAATTTGT	0.308																																						ENST00000409573.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						c.(592-594)Aaa>Caa		zinc finger CCCH-type containing 8							74	66	68					2																	112991726		1823	4083	5906	SO:0001583	missense	84524				apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:112991726T>G	AF334161	CCDS46392.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000144161	ENSG00000144161		"Zinc fingers, CCCH-type domain containing"	30941	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 8"	ZC3HDC8		12477932	Standard	NM_032494		Approved	Fliz1	uc021vmw.1	Q8N5P1	OTTHUMG00000153270	ENST00000409573.2:c.592A>C	2.37:g.112991726T>G	ENSP00000386488:p.Lys198Gln		Somatic				ZC3H8_ENST00000272570.5_Missense_Mutation_p.K198Q	p.K198Q			WXS	Illumina GAIIx	Phase_I	Q8N5P1	ZC3H8_HUMAN			5	721	-			198					Q9BZ75	Missense_Mutation	SNP	ENST00000409573.2	37	c.592A>C	CCDS46392.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.503896	0.85176	.	.	ENSG00000144161	ENST00000409573;ENST00000272570	T;T	0.36157	1.27;1.27	5.04	5.04	0.67666	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.57007	0.2024	M	0.62266	1.93	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.57969	-0.7719	10	0.51188	T	0.08	-26.654	14.9045	0.70709	0.0:0.0:0.0:1.0	.	198	Q8N5P1	ZC3H8_HUMAN	Q	198	ENSP00000386488:K198Q;ENSP00000272570:K198Q	ENSP00000272570:K198Q	K	-	1	0	ZC3H8	112708197	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.107000	0.77047	2.240000	0.73641	0.533000	0.62120	AAA		0.308	ZC3H8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330521.3	NM_032494		6	6	0	0	0	1	0	6	6					G	112991726	T	G	112991726	3	3	48	1	0	0	0	0	1	0	0	0	17589	1763	61	4	299	4	ZC3H8	2	112991726	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	212603	112991726	130207647	601	5069										
ZC3H6	376940	broad.mit.edu	37	chr2	113079393	113079393	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttaccagggagacaactgtaAattttcccatgatgatctaa	7	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113079393A>C	ENST00000409871.1	+	8	1438	c.1037A>C	c.(1036-1038)aAa>aCa	p.K346T	ZC3H6_ENST00000343936.4_Missense_Mutation_p.K346T	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	346							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GACAACTGTAAATTTTCCCAT	0.308																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(1036-1038)aAa>aCa		zinc finger CCCH-type containing 6							46	41	43					2																	113079393		1801	4068	5869	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113079393A>C	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.1037A>C	2.37:g.113079393A>C	ENSP00000386764:p.Lys346Thr		Somatic				ZC3H6_ENST00000343936.4_Missense_Mutation_p.K346T	p.K346T	NM_198581.2	NP_940983.2	WXS	Illumina GAIIx	Phase_I	P61129	ZC3H6_HUMAN			8	1438	+			346					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.1037A>C	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752741	0.89753	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.40756	1.02;1.02	5.54	5.54	0.83059	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	L	0.52759	1.655	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.57917	-0.7728	10	0.46703	T	0.11	-25.9529	15.9801	0.80102	1.0:0.0:0.0:0.0	.	346	P61129	ZC3H6_HUMAN	T	346;346;323	ENSP00000386764:K346T;ENSP00000340298:K346T	ENSP00000340298:K346T	K	+	2	0	ZC3H6	112795864	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.887000	0.92456	2.230000	0.72887	0.528000	0.53228	AAA		0.308	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		5	7	0	0	0	1	0	5	7					C	113079393	A	C	113079393	3	2	48	1	0	0	0	0	1	0	0	0	17586	14	1	4	1067	4	ZC3H6	2	113079393	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	87667	113079393	130119980	602	5070										
ZC3H6	376940	broad.mit.edu	37	chr2	113082687	113082687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctccctgcagtgcaaagaGctctttttgtaagacttact	7	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113082687G>A	ENST00000409871.1	+	11	2400	c.1999G>A	c.(1999-2001)Gct>Act	p.A667T	ZC3H6_ENST00000343936.4_Missense_Mutation_p.A667T	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	667							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AGTGCAAAGAGCTCTTTTTGT	0.517																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(1999-2001)Gct>Act		zinc finger CCCH-type containing 6							71	71	71					2																	113082687		1979	4169	6148	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113082687G>A	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.1999G>A	2.37:g.113082687G>A	ENSP00000386764:p.Ala667Thr		Somatic				ZC3H6_ENST00000343936.4_Missense_Mutation_p.A667T	p.A667T	NM_198581.2	NP_940983.2	WXS	Illumina GAIIx	Phase_I	P61129	ZC3H6_HUMAN			11	2400	+			667					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.1999G>A	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	35	5.421076	0.96111	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.18960	2.18;2.18	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.49558	0.1564	M	0.76328	2.33	0.54753	D	0.999983	D	0.89917	1.0	D	0.68765	0.96	T	0.45934	-0.9227	10	0.72032	D	0.01	-19.7275	20.2147	0.98293	0.0:0.0:1.0:0.0	.	667	P61129	ZC3H6_HUMAN	T	667;667;644	ENSP00000386764:A667T;ENSP00000340298:A667T	ENSP00000340298:A667T	A	+	1	0	ZC3H6	112799158	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.435000	0.80391	2.785000	0.95823	0.591000	0.81541	GCT		0.517	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		16	37	0	0	0	1	0	16	37					A	113082687	G	A	113082687	3	1	48	1	0	0	0	0	1	0	0	0	17586	971	34	3	2041	3	ZC3H6	2	113082687	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3294	113082687	130116686	603	5071										
POLR1B	84172	broad.mit.edu	37	chr2	113308539	113308539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatgttgaactttatttaccGaaaagaactgttctttcttc	5	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113308539G>A	ENST00000263331.5	+	5	1302	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	POLR1B_ENST00000541869.1_Missense_Mutation_p.R279Q|POLR1B_ENST00000417433.2_Missense_Mutation_p.R185Q|POLR1B_ENST00000409894.3_Missense_Mutation_p.R241Q|POLR1B_ENST00000537335.1_Missense_Mutation_p.R30Q	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	241					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						TTTATTTACCGAAAAGAACTG	0.378																																					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.(721-723)cGa>cAa		polymerase (RNA) I polypeptide B, 128kDa							228	214	218					2																	113308539		2203	4300	6503	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113308539G>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.722G>A	2.37:g.113308539G>A	ENSP00000263331:p.Arg241Gln		Somatic				POLR1B_ENST00000417433.2_Missense_Mutation_p.R185Q|POLR1B_ENST00000409894.3_Missense_Mutation_p.R241Q|POLR1B_ENST00000541869.1_Missense_Mutation_p.R279Q|POLR1B_ENST00000537335.1_Missense_Mutation_p.R30Q	p.R241Q	NM_019014.4	NP_061887.2	WXS	Illumina GAIIx	Phase_I	Q9H9Y6	RPA2_HUMAN			5	1302	+			241					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.722G>A	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233817	0.58886	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.02	2.8	0.32819	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.222954	0.47852	N	0.000220	T	0.59321	0.2185	L	0.28649	0.875	0.49687	D	0.999818	B;B;B;B	0.19583	0.01;0.037;0.003;0.001	B;B;B;B	0.15484	0.01;0.007;0.013;0.01	T	0.48969	-0.8987	10	0.19590	T	0.45	-14.94	4.7208	0.12917	0.422:0.0:0.578:0.0	.	279;241;185;241	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	Q	241;279;241;30;185	ENSP00000263331:R241Q;ENSP00000444136:R279Q;ENSP00000387143:R241Q;ENSP00000437914:R30Q;ENSP00000405358:R185Q	ENSP00000263331:R241Q	R	+	2	0	POLR1B	113025010	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.282000	0.51693	1.247000	0.43917	0.650000	0.86243	CGA		0.378	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		20	82	0	0	0	1	0	20	82					A	113308539	G	A	113308539	3	1	48	1	0	0	0	0	1	0	0	0	12219	1058	37	1	740	1	POLR1B	2	113308539	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	225852	113308539	129890834	604	5072										
IL1A	3552	broad.mit.edu	37	chr2	113537171	113537171	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattcaggatgaattcgtatTtgatgatcctcataaagttg	8	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113537171T>G	ENST00000263339.3	-	5	547	c.392A>C	c.(391-393)aAa>aCa	p.K131T		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	131					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	GAATTCGTATTTGATGATCCT	0.403																																						ENST00000263339.3																			0				breast(2)|large_intestine(1)|lung(9)	12						c.(391-393)aAa>aCa		interleukin 1, alpha							171	134	147					2																	113537171		2203	4300	6503	SO:0001583	missense	3552				anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	g.chr2:113537171T>G	M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"Interleukins and interleukin receptors", "Endogenous ligands"	5991	protein-coding gene	gene with protein product	"preinterleukin 1 alpha", "hematopoietin-1", "pro-interleukin-1-alpha"	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.392A>C	2.37:g.113537171T>G	ENSP00000263339:p.Lys131Thr		Somatic					p.K131T	NM_000575.3	NP_000566.3	WXS	Illumina GAIIx	Phase_I	P01583	IL1A_HUMAN			5	547	-			131					Q53QF9|Q7RU02	Missense_Mutation	SNP	ENST00000263339.3	37	c.392A>C	CCDS2101.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.991587	0.35131	.	.	ENSG00000115008	ENST00000263339	T	0.21191	2.02	4.44	0.5	0.16919	.	1.166440	0.06161	N	0.675997	T	0.18964	0.0455	L	0.54323	1.7	0.09310	N	1	P	0.43287	0.802	B	0.40565	0.333	T	0.20806	-1.0264	10	0.29301	T	0.29	-34.386	3.1456	0.06471	0.175:0.1959:0.0:0.6291	.	131	P01583	IL1A_HUMAN	T	131	ENSP00000263339:K131T	ENSP00000263339:K131T	K	-	2	0	IL1A	113253642	0.007000	0.16637	0.000000	0.03702	0.004000	0.04260	0.164000	0.16542	0.086000	0.17137	0.528000	0.53228	AAA		0.403	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254084.1	NM_000575		14	24	0	0	0	1	0	14	24					G	113537171	T	G	113537171	3	3	48	1	0	0	0	0	1	0	0	0	7659	1841	64	4	435	4	IL1A	2	113537171	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	228632	113537171	129662202	605	5073										
IL1B	3553	broad.mit.edu	37	chr2	113590973	113590973	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttcaaagatgaagggaaaGaaggtgctcaggtcattctc	11	7	5	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113590973G>T	ENST00000263341.2	-	4	489	c.279C>A	c.(277-279)ttC>ttA	p.F93L	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	93					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)	TGAAGGGAAAGAAGGTGCTCA	0.532																																						ENST00000263341.2																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12						c.(277-279)ttC>ttA		interleukin 1, beta	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						106	97	100					2																	113590973		2203	4300	6503	SO:0001583	missense	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.chr2:113590973G>T	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.279C>A	2.37:g.113590973G>T	ENSP00000263341:p.Phe93Leu		Somatic				IL1B_ENST00000491056.1_5'UTR	p.F93L	NM_000576.2	NP_000567.1	WXS	Illumina GAIIx	Phase_I	P01584	IL1B_HUMAN			4	489	-			93					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Missense_Mutation	SNP	ENST00000263341.2	37	c.279C>A	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	G	7.954	0.745572	0.15710	.	.	ENSG00000125538	ENST00000263341;ENST00000418817;ENST00000432018;ENST00000416750	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	4.89	2.05	0.26809	Interleukin-1 propeptide (1);	1.048650	0.07442	N	0.897468	T	0.19725	0.0474	N	0.16903	0.455	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21280	-1.0250	10	0.02654	T	1	-19.2338	8.6342	0.33936	0.0859:0.2929:0.6212:0.0	.	93	P01584	IL1B_HUMAN	L	93	ENSP00000263341:F93L;ENSP00000407219:F93L;ENSP00000409680:F93L;ENSP00000400854:F93L	ENSP00000263341:F93L	F	-	3	2	IL1B	113307444	0.373000	0.25073	0.001000	0.08648	0.408000	0.30992	0.217000	0.17603	0.340000	0.23745	-1.268000	0.01426	TTC		0.532	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		36	51	1	0	2.09667e-21	1	2.89385e-21	36	51					T	113590973	G	T	113590973	3	4	48	1	0	0	0	0	1	0	0	0	7660	933	33	2	546	2	IL1B	2	113590973	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	53802	113590973	129608400	606	5074										
IL1F8	27177	broad.mit.edu	37	chr2	113783740	113783740	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctctctctcacatccaggtTtatgcatgtgtgaattccaa	7	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113783740T>G	ENST00000259213.4	-	5	438	c.331A>C	c.(331-333)Aac>Cac	p.N111H		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	111					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						acatccaggtttatgcatgtg	0.473																																						ENST00000259213.4																			0				kidney(1)|ovary(1)|pancreas(1)	3						c.(331-333)Aac>Cac		interleukin 36, beta							192	165	174					2																	113783740		2203	4300	6503	SO:0001583	missense	27177				immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113783740T>G	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.331A>C	2.37:g.113783740T>G	ENSP00000259213:p.Asn111His		Somatic					p.N111H	NM_014438.3	NP_055253.2	WXS	Illumina GAIIx	Phase_I	Q9NZH7	IL36B_HUMAN			5	438	-			111					Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP	ENST00000259213.4	37	c.331A>C	CCDS2109.1	.	.	.	.	.	.	.	.	.	.	t	12.82	2.051682	0.36181	.	.	ENSG00000136696	ENST00000259213	T	0.18338	2.22	2.61	-5.22	0.02806	.	3.114840	0.01362	U	0.012288	T	0.12817	0.0311	L	0.34521	1.04	0.09310	N	0.999999	B	0.22541	0.071	B	0.22152	0.038	T	0.31364	-0.9946	10	0.87932	D	0	.	4.8758	0.13655	0.0:0.3587:0.3673:0.2741	.	111	Q9NZH7	IL36B_HUMAN	H	111	ENSP00000259213:N111H	ENSP00000259213:N111H	N	-	1	0	IL36B	113500211	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.548000	0.02184	-1.216000	0.02607	-0.386000	0.06593	AAC		0.473	IL36B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254110.1	NM_014438		12	29	0	0	0	1	0	12	29					G	113783740	T	G	113783740	3	3	48	1	0	0	0	0	1	0	0	0	7665	1841	64	4	171	4	IL1F8	2	113783740	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	192767	113783740	129415633	607	5075										
IL1F8	27177	broad.mit.edu	37	chr2	113788717	113788717	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatcacgaatagcataggatTtgggtgctgcctcccctgcc	10	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113788717T>G	ENST00000259213.4	-	3	136	c.29A>C	c.(28-30)aAa>aCa	p.K10T	IL36B_ENST00000327407.2_Missense_Mutation_p.K10T	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	10					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						AGCATAGGATTTGGGTGCTGC	0.463																																						ENST00000259213.4																			0				kidney(1)|ovary(1)|pancreas(1)	3						c.(28-30)aAa>aCa		interleukin 36, beta							98	87	91					2																	113788717		2203	4300	6503	SO:0001583	missense	27177				immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113788717T>G	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.29A>C	2.37:g.113788717T>G	ENSP00000259213:p.Lys10Thr		Somatic				IL36B_ENST00000327407.2_Missense_Mutation_p.K10T	p.K10T	NM_014438.3	NP_055253.2	WXS	Illumina GAIIx	Phase_I	Q9NZH7	IL36B_HUMAN			3	136	-			10					Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP	ENST00000259213.4	37	c.29A>C	CCDS2109.1	.	.	.	.	.	.	.	.	.	.	t	2.675	-0.276730	0.05679	.	.	ENSG00000136696	ENST00000259213;ENST00000327407	T;T	0.16324	2.35;2.35	3.21	-6.43	0.01926	.	6.063900	0.00166	N	0.000000	T	0.10937	0.0267	L	0.29908	0.895	0.09310	N	1	B;B	0.29671	0.129;0.254	B;B	0.31946	0.138;0.089	T	0.10474	-1.0628	10	0.48119	T	0.1	.	0.6854	0.00882	0.3396:0.2481:0.2586:0.1537	.	10;10	Q9NZH7-2;Q9NZH7	.;IL36B_HUMAN	T	10	ENSP00000259213:K10T;ENSP00000328420:K10T	ENSP00000259213:K10T	K	-	2	0	IL36B	113505188	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.765000	0.01799	-2.349000	0.00618	-0.623000	0.04022	AAA		0.463	IL36B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254110.1	NM_014438		9	45	0	0	0	1	0	9	45					G	113788717	T	G	113788717	3	3	48	1	0	0	0	0	1	0	0	0	7665	1841	64	4	698	4	IL1F8	2	113788717	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	4977	113788717	129410656	608	5076										
PSD4	23550	broad.mit.edu	37	chr2	113940100	113940100	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctcaacctgtacttgggaGacagcctggagccccaccca	9	15	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113940100G>A	ENST00000245796.6	+	2	262	c.67G>A	c.(67-69)Gac>Aac	p.D23N	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.3_Missense_Mutation_p.D23N	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	23					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						GTACTTGGGAGACAGCCTGGA	0.607																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(67-69)Gac>Aac		pleckstrin and Sec7 domain containing 4							73	68	70					2																	113940100		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940100G>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.67G>A	2.37:g.113940100G>A	ENSP00000245796:p.Asp23Asn		Somatic				PSD4_ENST00000441564.2_Missense_Mutation_p.D23N|PSD4_ENST00000465917.1_3'UTR	p.D23N	NM_012455.2	NP_036587.2	WXS	Illumina GAIIx	Phase_I	Q8NDX1	PSD4_HUMAN			2	262	+			23					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.67G>A	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365760	0.61513	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.26957	1.7;1.72	5.0	5.0	0.66597	.	0.603757	0.15793	N	0.244327	T	0.26412	0.0645	L	0.27053	0.805	0.80722	D	1	P;P	0.40731	0.728;0.608	P;B	0.46076	0.503;0.306	T	0.02728	-1.1118	10	0.48119	T	0.1	.	13.8064	0.63236	0.0:0.0:1.0:0.0	.	23;23	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	N	23	ENSP00000245796:D23N;ENSP00000413997:D23N	ENSP00000245796:D23N	D	+	1	0	PSD4	113656571	0.991000	0.36638	0.936000	0.37596	0.182000	0.23217	4.201000	0.58439	2.326000	0.78906	0.462000	0.41574	GAC		0.607	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		22	52	0	0	0	1	0	22	52					A	113940100	G	A	113940100	3	1	48	1	0	0	0	0	1	0	0	0	12661	942	33	3	69	3	PSD4	2	113940100	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	151383	113940100	129259273	609	5077										
DPP10	57628	broad.mit.edu	37	chr2	116548868	116548868	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctttctttaaaagaacttCctttacagttgtcccttccc	3	13	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:116548868C>A	ENST00000410059.1	+	19	2116	c.1636C>A	c.(1636-1638)Cct>Act	p.P546T	DPP10_ENST00000310323.8_Missense_Mutation_p.P539T|DPP10_ENST00000393147.2_Missense_Mutation_p.P550T|DPP10_ENST00000409163.1_Missense_Mutation_p.P496T	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	546						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						AAAAGAACTTCCTTTACAGTT	0.313																																						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.(1636-1638)Cct>Act		dipeptidyl-peptidase 10 (non-functional)							88	92	91					2																	116548868		2202	4298	6500	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116548868C>A	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.1636C>A	2.37:g.116548868C>A	ENSP00000386565:p.Pro546Thr		Somatic				DPP10_ENST00000310323.8_Missense_Mutation_p.P539T|DPP10_ENST00000393147.2_Missense_Mutation_p.P550T|DPP10_ENST00000409163.1_Missense_Mutation_p.P496T	p.P546T	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	WXS	Illumina GAIIx	Phase_I	Q8N608	DPP10_HUMAN			19	2116	+			546					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1636C>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482069	0.44147	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.54	5.54	0.83059	.	0.054433	0.85682	D	0.000000	T	0.49440	0.1557	M	0.62723	1.935	0.49389	D	0.999787	B;D;B;B	0.54772	0.364;0.968;0.249;0.249	B;P;B;B	0.48334	0.106;0.574;0.033;0.049	T	0.42344	-0.9457	10	0.37606	T	0.19	-14.1659	16.7938	0.85596	0.0:1.0:0.0:0.0	.	539;550;542;546	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	T	546;496;550;539;496	ENSP00000386565:P546T;ENSP00000387038:P496T;ENSP00000376855:P550T;ENSP00000309066:P539T	ENSP00000309066:P539T	P	+	1	0	DPP10	116265338	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.224000	0.65288	2.880000	0.98712	0.650000	0.86243	CCT		0.313	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		11	31	1	0	3.27435e-08	1	3.83577e-08	11	31					A	116548868	C	A	116548868	3	1	48	1	0	0	0	0	1	0	0	0	4729	855	30	2	1881	2	DPP10	2	116548868	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2608768	116548868	126650505	610	5078										
DPP10	57628	broad.mit.edu	37	chr2	116598356	116598356	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttccaacactcagcagaatTaatcaagcacctaataaaag	4	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:116598356T>G	ENST00000410059.1	+	25	2693	c.2213T>G	c.(2212-2214)tTa>tGa	p.L738*	DPP10_ENST00000310323.8_Nonsense_Mutation_p.L731*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.L742*|DPP10_ENST00000409163.1_Nonsense_Mutation_p.L688*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	738						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						TCAGCAGAATTAATCAAGCAC	0.328																																						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.(2212-2214)tTa>tGa		dipeptidyl-peptidase 10 (non-functional)							98	97	97					2																	116598356		2203	4300	6503	SO:0001587	stop_gained	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116598356T>G	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.2213T>G	2.37:g.116598356T>G	ENSP00000386565:p.Leu738*		Somatic				DPP10_ENST00000310323.8_Nonsense_Mutation_p.L731*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.L742*|DPP10_ENST00000409163.1_Nonsense_Mutation_p.L688*	p.L738*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	WXS	Illumina GAIIx	Phase_I	Q8N608	DPP10_HUMAN			25	2693	+			738					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Nonsense_Mutation	SNP	ENST00000410059.1	37	c.2213T>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	41	8.928407	0.99006	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	.	.	.	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2904	15.6754	0.77316	0.0:0.0:0.0:1.0	.	.	.	.	X	738;688;742;731	.	ENSP00000309066:L731X	L	+	2	0	DPP10	116314826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.911000	0.75746	2.291000	0.77112	0.533000	0.62120	TTA		0.328	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		7	35	0	0	0	1	0	7	35					G	116598356	T	G	116598356	4	3	48	1	0	0	0	0	0	1	0	0	4729	1764	61	4	2482	4	DPP10	2	116598356	Nonsense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	49488	116598356	126601017	611	5079										
CCDC93	54520	broad.mit.edu	37	chr2	118705682	118705682	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacaccaaacaacacttactCgacaatgtgctttaaattcc	4	12	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:118705682C>T	ENST00000376300.2	-	15	1360	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	CCDC93_ENST00000319432.5_Splice_Site_p.R407Q	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	408								p.R408L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AACACTTACTCGACAATGTGC	0.398																																						ENST00000376300.2																			1	Substitution - Missense(1)	p.R408L(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.e15+1		coiled-coil domain containing 93							257	257	257					2																	118705682		2203	4300	6503	SO:0001630	splice_region_variant	54520							g.chr2:118705682C>T	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1224+1G>A	2.37:g.118705682C>T			Somatic				CCDC93_ENST00000319432.5_Splice_Site_p.R407_splice	p.R408_splice	NM_019044.4	NP_061917.3	WXS	Illumina GAIIx	Phase_I	Q567U6	CCD93_HUMAN			15	1360	-			408					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Splice_Site	SNP	ENST00000376300.2	37	c.1224_splice	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038433	0.93630	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.19938	2.11;2.12	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	L	0.58428	1.81	0.49299	D	0.999772	D	0.57257	0.979	P	0.45946	0.498	T	0.01940	-1.1243	10	0.22109	T	0.4	-8.4618	17.1039	0.86657	0.0:1.0:0.0:0.0	.	408	Q567U6	CCD93_HUMAN	Q	408;407	ENSP00000365477:R408Q;ENSP00000324135:R407Q	ENSP00000324135:R407Q	R	-	2	0	CCDC93	118422152	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.668000	0.61568	2.698000	0.92095	0.650000	0.86243	CGA		0.398	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044	Missense_Mutation	70	124	0	0	0	1	0	70	124					T	118705682	C	T	118705682	5	4	48	1	0	0	0	0	0	0	1	0	2874	898	31	1	712	1	CCDC93	2	118705682	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2107326	118705682	124493691	612	5080										
CCDC93	54520	broad.mit.edu	37	chr2	118731517	118731517	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcggacacaatctgcttgatCtcagcagagcagagtcccac	9	13	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:118731517C>A	ENST00000376300.2	-	11	992	c.855G>T	c.(853-855)gaG>gaT	p.E285D	CCDC93_ENST00000460781.1_5'UTR|CCDC93_ENST00000319432.5_Missense_Mutation_p.E284D	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	285										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TCTGCTTGATCTCAGCAGAGC	0.552																																						ENST00000376300.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(853-855)gaG>gaT		coiled-coil domain containing 93							60	54	56					2																	118731517		2203	4300	6503	SO:0001583	missense	54520							g.chr2:118731517C>A	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.855G>T	2.37:g.118731517C>A	ENSP00000365477:p.Glu285Asp		Somatic				CCDC93_ENST00000319432.5_Missense_Mutation_p.E284D|CCDC93_ENST00000460781.1_5'UTR	p.E285D	NM_019044.4	NP_061917.3	WXS	Illumina GAIIx	Phase_I	Q567U6	CCD93_HUMAN			11	992	-			285					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.855G>T	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963988	0.74131	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.22134	1.99;1.97	5.16	4.29	0.51040	.	0.049197	0.85682	D	0.000000	T	0.27900	0.0687	M	0.68593	2.085	0.46798	D	0.999209	B	0.28291	0.206	B	0.35971	0.215	T	0.07009	-1.0795	10	0.49607	T	0.09	-15.9561	12.0765	0.53647	0.0:0.9209:0.0:0.0791	.	285	Q567U6	CCD93_HUMAN	D	285;284	ENSP00000365477:E285D;ENSP00000324135:E284D	ENSP00000324135:E284D	E	-	3	2	CCDC93	118447987	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	1.634000	0.37123	1.402000	0.46780	-0.136000	0.14681	GAG		0.552	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		8	11	1	0	2.17888e-05	1	2.39107e-05	8	11					A	118731517	C	A	118731517	3	1	48	1	0	0	0	0	1	0	0	0	2874	912	32	2	1096	2	CCDC93	2	118731517	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	25835	118731517	124467856	613	5081										
INSIG2	51141	broad.mit.edu	37	chr2	118864481	118864481	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatataatggtgtttaccagTaagtattaatccttcaattt	5	5	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:118864481T>C	ENST00000245787.4	+	4	742		c.e4+2		INSIG2_ENST00000485520.1_Splice_Site	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2						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						TGTTTACCAGTAAGTATTAAT	0.358																																						ENST00000245787.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.e4+2		insulin induced gene 2							198	193	195					2																	118864481		2203	4300	6503	SO:0001630	splice_region_variant	51141				ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		g.chr2:118864481T>C	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.536+2T>C	2.37:g.118864481T>C			Somatic				INSIG2_ENST00000485520.1_Splice_Site		NM_016133.2	NP_057217.2	WXS	Illumina GAIIx	Phase_I	Q9Y5U4	INSI2_HUMAN			4	742	+								A8K5W8|Q8TBI8	Splice_Site	SNP	ENST00000245787.4	37		CCDS2122.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.792621	0.31685	.	.	ENSG00000125629	ENST00000245787	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8527	0.78947	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	INSIG2	118580951	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	7.477000	0.81069	2.330000	0.79161	0.477000	0.44152	.		0.358	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129624.1	NM_016133	Intron	9	88	0	0	0	1	0	9	88					C	118864481	T	C	118864481	5	2	48	1	0	0	0	0	0	0	1	0	7775	1652	57	4	548	4	INSIG2	2	118864481	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	132964	118864481	124334892	614	5082										
RALB	5899	broad.mit.edu	37	chr2	121043504	121043504	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttatagaaagaaagtggttCttgatggggaagaagttcag	14	2	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:121043504C>A	ENST00000272519.5	+	3	439	c.169C>A	c.(169-171)Ctt>Att	p.L57I	RALB_ENST00000404963.3_Missense_Mutation_p.L78I|RALB_ENST00000474855.2_Missense_Mutation_p.L79I|RALB_ENST00000470417.1_Intron|RALB_ENST00000420510.1_Missense_Mutation_p.L57I	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	57					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				GAAAGTGGTTCTTGATGGGGA	0.418																																						ENST00000272519.5																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(169-171)Ctt>Att		v-ral simian leukemia viral oncogene homolog B							94	94	94					2																	121043504		2203	4300	6503	SO:0001583	missense	5899				apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:121043504C>A		CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"ras related GTP binding protein B"	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.169C>A	2.37:g.121043504C>A	ENSP00000272519:p.Leu57Ile		Somatic				RALB_ENST00000420510.1_Missense_Mutation_p.L57I|RALB_ENST00000474855.2_Missense_Mutation_p.L79I|RALB_ENST00000404963.3_Missense_Mutation_p.L78I|RALB_ENST00000470417.1_Intron	p.L57I	NM_002881.2	NP_002872.1	WXS	Illumina GAIIx	Phase_I	P11234	RALB_HUMAN			3	439	+		Prostate(154;0.122)	57					B4E040|Q53T32|Q6ZS74	Missense_Mutation	SNP	ENST00000272519.5	37	c.169C>A	CCDS2131.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389741	0.25118	.	.	ENSG00000144118	ENST00000447591;ENST00000474855;ENST00000272519;ENST00000420510;ENST00000404963;ENST00000412383;ENST00000449649	T;T;T;T;T;T;T	0.76316	-0.39;-1.01;-1.01;-1.01;-1.01;-1.01;-0.39	5.95	5.95	0.96441	Small GTP-binding protein domain (1);	0.065276	0.64402	N	0.000008	T	0.54565	0.1866	N	0.00496	-1.435	0.80722	D	1	B;B;B	0.33919	0.025;0.432;0.044	B;B;B	0.42625	0.333;0.393;0.288	T	0.63323	-0.6663	10	0.02654	T	1	.	20.3789	0.98926	0.0:1.0:0.0:0.0	.	79;78;57	B4E040;Q6ZS74;P11234	.;.;RALB_HUMAN	I	79;79;57;57;78;57;57	ENSP00000402866:L79I;ENSP00000438764:L79I;ENSP00000272519:L57I;ENSP00000414224:L57I;ENSP00000384328:L78I;ENSP00000398162:L57I;ENSP00000407062:L57I	ENSP00000272519:L57I	L	+	1	0	RALB	120759974	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.826000	0.62715	2.826000	0.97356	0.563000	0.77884	CTT		0.418	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3	NM_002881		17	40	1	0	1.33834e-09	1	1.61283e-09	17	40					A	121043504	C	A	121043504	3	1	48	1	0	0	0	0	1	0	0	0	13026	913	32	2	175	2	RALB	2	121043504	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2179023	121043504	122155869	615	5083										
RALB	5899	broad.mit.edu	37	chr2	121043521	121043521	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttcttgatggggaagaagtTcagatagatattctggacac	12	5	3	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:121043521T>G	ENST00000272519.5	+	3	456	c.186T>G	c.(184-186)gtT>gtG	p.V62V	RALB_ENST00000404963.3_Silent_p.V83V|RALB_ENST00000474855.2_Silent_p.V84V|RALB_ENST00000470417.1_Intron|RALB_ENST00000420510.1_Silent_p.V62V	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	62					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				GGGAAGAAGTTCAGATAGATA	0.413																																						ENST00000272519.5																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(184-186)gtT>gtG		v-ral simian leukemia viral oncogene homolog B							106	101	103					2																	121043521		2203	4300	6503	SO:0001819	synonymous_variant	5899				apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:121043521T>G		CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"ras related GTP binding protein B"	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.186T>G	2.37:g.121043521T>G			Somatic				RALB_ENST00000420510.1_Silent_p.V62V|RALB_ENST00000474855.2_Silent_p.V84V|RALB_ENST00000404963.3_Silent_p.V83V|RALB_ENST00000470417.1_Intron	p.V62V	NM_002881.2	NP_002872.1	WXS	Illumina GAIIx	Phase_I	P11234	RALB_HUMAN			3	456	+		Prostate(154;0.122)	62					B4E040|Q53T32|Q6ZS74	Silent	SNP	ENST00000272519.5	37	c.186T>G	CCDS2131.1																																																																																				0.413	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254232.3	NM_002881		14	38	0	0	0	1	0	14	38					G	121043521	T	G	121043521	2	3	48	1	0	0	0	0	0	0	0	1	13026	1770	62	4		4	RALB	2	121043521	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	17	121043521	122155852	616	5084										
GLI2	2736	broad.mit.edu	37	chr2	121736119	121736119	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcagtacatgctggtggtgcAcatgcggcgacacacgggcg	16	11	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:121736119A>G	ENST00000452319.1	+	10	1538	c.1478A>G	c.(1477-1479)cAc>cGc	p.H493R	GLI2_ENST00000361492.4_Missense_Mutation_p.H493R|GLI2_ENST00000314490.11_Missense_Mutation_p.H165R|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTGGTGGTGCACATGCGGCGA	0.652																																						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.(1477-1479)cAc>cGc		GLI family zinc finger 2							87	74	79					2																	121736119		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.chr2:121736119A>G		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.1478A>G	2.37:g.121736119A>G	ENSP00000390436:p.His493Arg		Somatic				GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.H493R|GLI2_ENST00000314490.11_Missense_Mutation_p.H165R	p.H493R			WXS	Illumina GAIIx	Phase_I	P10070	GLI2_HUMAN			10	1538	+	Renal(3;0.0496)	Prostate(154;0.0623)	493						Missense_Mutation	SNP	ENST00000452319.1	37	c.1478A>G	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.434288	0.83776	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.86865	-2.18;-2.18;-2.18	4.27	4.27	0.50696	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	0.94381	0.8193	M	0.91406	3.205	0.80722	D	1	D;D;P;D;D	0.89917	0.971;1.0;0.955;1.0;0.999	P;D;P;D;D	0.97110	0.771;1.0;0.584;0.99;0.976	D	0.95481	0.8560	10	0.87932	D	0	.	13.8318	0.63386	1.0:0.0:0.0:0.0	.	493;476;148;148;165	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	R	493;493;165	ENSP00000390436:H493R;ENSP00000354586:H493R;ENSP00000312694:H165R	ENSP00000312694:H165R	H	+	2	0	GLI2	121452589	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.036000	0.93758	1.916000	0.55485	0.402000	0.26972	CAC		0.652	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		17	125	0	0	0	1	0	17	125					G	121736119	A	G	121736119	3	3	48	1	0	0	0	0	1	0	0	0	6446	159	6	4	1512	4	GLI2	2	121736119	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	692598	121736119	121463254	617	5085										
GLI2	2736	broad.mit.edu	37	chr2	121745903	121745903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgctgagccagctgcaggagCgccgcgacagctccaccagc	13	16	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:121745903C>T	ENST00000452319.1	+	14	2473	c.2413C>T	c.(2413-2415)Cgc>Tgc	p.R805C	GLI2_ENST00000361492.4_Missense_Mutation_p.R805C|GLI2_ENST00000314490.11_Missense_Mutation_p.R477C					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)				GCTGCAGGAGCGCCGCGACAG	0.736																																						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.(2413-2415)Cgc>Tgc		GLI family zinc finger 2							6	8	8					2																	121745903		2133	4209	6342	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.chr2:121745903C>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.2413C>T	2.37:g.121745903C>T	ENSP00000390436:p.Arg805Cys		Somatic				GLI2_ENST00000361492.4_Missense_Mutation_p.R805C|GLI2_ENST00000314490.11_Missense_Mutation_p.R477C	p.R805C			WXS	Illumina GAIIx	Phase_I	P10070	GLI2_HUMAN			14	2473	+	Renal(3;0.0496)	Prostate(154;0.0623)	805			Ser-rich.			Missense_Mutation	SNP	ENST00000452319.1	37	c.2413C>T	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274803	0.95459	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.92199	-2.99;-2.99;-2.99	4.58	4.58	0.56647	.	0.112746	0.64402	D	0.000007	D	0.96636	0.8902	M	0.89095	3.005	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;0.999	D	0.97514	1.0068	10	0.87932	D	0	.	17.587	0.87984	0.0:1.0:0.0:0.0	.	805;460;460;477	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	C	805;805;477	ENSP00000390436:R805C;ENSP00000354586:R805C;ENSP00000312694:R477C	ENSP00000312694:R477C	R	+	1	0	GLI2	121462373	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.447000	0.80620	2.366000	0.80165	0.561000	0.74099	CGC		0.736	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		7	10	0	0	0	1	0	7	10					T	121745903	C	T	121745903	3	4	48	1	0	0	0	0	1	0	0	0	6446	768	27	1	2463	1	GLI2	2	121745903	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	9784	121745903	121453470	618	5086										
CLASP1	23332	broad.mit.edu	37	chr2	122120867	122120867	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aactcttaacgccagtgctcGaattgaatgctagaatacaa	7	9	1	2	rs145127425	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:122120867G>A	ENST00000263710.4	-	37	4476	c.4087C>T	c.(4087-4089)Cga>Tga	p.R1363*	CLASP1_ENST00000545861.1_Nonsense_Mutation_p.R1070*|CLASP1_ENST00000455322.2_Nonsense_Mutation_p.R1319*|CLASP1_ENST00000541377.1_Nonsense_Mutation_p.R1302*|CLASP1_ENST00000397587.3_Nonsense_Mutation_p.R1303*|CLASP1_ENST00000409078.3_Nonsense_Mutation_p.R1296*|CLASP1_ENST00000541859.1_Nonsense_Mutation_p.R1080*	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1363	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.R1363*(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GCCAGTGCTCGAATTGAATGC	0.468																																						ENST00000263710.4																			2	Substitution - Nonsense(2)	p.R1363*(2)	large_intestine(2)	NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(4087-4089)Cga>Tga		cytoplasmic linker associated protein 1							71	65	67					2																	122120867		1960	4154	6114	SO:0001587	stop_gained	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122120867G>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.4087C>T	2.37:g.122120867G>A	ENSP00000263710:p.Arg1363*		Somatic				CLASP1_ENST00000409078.3_Nonsense_Mutation_p.R1296*|CLASP1_ENST00000541859.1_Nonsense_Mutation_p.R1080*|CLASP1_ENST00000397587.3_Nonsense_Mutation_p.R1303*|CLASP1_ENST00000455322.2_Nonsense_Mutation_p.R1319*|CLASP1_ENST00000545861.1_Nonsense_Mutation_p.R1070*|CLASP1_ENST00000541377.1_Nonsense_Mutation_p.R1302*	p.R1363*	NM_015282.2	NP_056097.1	WXS	Illumina GAIIx	Phase_I	Q7Z460	CLAP1_HUMAN			37	4476	-	Renal(3;0.0496)		1363			Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Nonsense_Mutation	SNP	ENST00000263710.4	37	c.4087C>T		.	.	.	.	.	.	.	.	.	.	G	44	11.084874	0.99513	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	.	.	.	5.34	5.34	0.76211	.	0.057652	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1363	14.2001	0.65696	0.0:0.0:0.8145:0.1855	.	.	.	.	X	1363;1319;1303;1302;1080;1296;1070	.	ENSP00000263710:R1363X	R	-	1	2	CLASP1	121837337	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	4.912000	0.63335	2.659000	0.90383	0.563000	0.77884	CGA		0.468	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		8	27	0	0	0	1	0	8	27					A	122120867	G	A	122120867	4	1	48	1	0	0	0	0	0	1	0	0	3456	1066	37	1	545	1	CLASP1	2	122120867	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	374964	122120867	121078506	619	5087										
MYO7B	4648	broad.mit.edu	37	chr2	128347738	128347738	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctctggaccagctgatgaaAatcctgaccaactgccagcc	8	14	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:128347738A>C	ENST00000409816.2	+	15	1958	c.1926A>C	c.(1924-1926)aaA>aaC	p.K642N	MYO7B_ENST00000389524.4_Missense_Mutation_p.K642N|MYO7B_ENST00000428314.1_Missense_Mutation_p.K642N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	642	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)		AGCTGATGAAAATCCTGACCA	0.512																																						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.(1924-1926)aaA>aaC		myosin VIIB							56	57	57					2																	128347738		1953	4139	6092	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128347738A>C		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.1926A>C	2.37:g.128347738A>C	ENSP00000386461:p.Lys642Asn		Somatic				MYO7B_ENST00000428314.1_Missense_Mutation_p.K642N|MYO7B_ENST00000409816.2_Missense_Mutation_p.K642N	p.K642N			WXS	Illumina GAIIx	Phase_I	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	16	1979	+	Colorectal(110;0.1)		642			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.1926A>C	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	a	15.50	2.852413	0.51270	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.71934	-0.61;-0.61;-0.61	5.39	4.22	0.49857	Myosin head, motor domain (2);	0.132074	0.48767	D	0.000167	T	0.78349	0.4269	L	0.49699	1.58	0.42271	D	0.992059	D	0.76494	0.999	D	0.73708	0.981	T	0.76716	-0.2857	10	0.39692	T	0.17	.	12.5837	0.56406	0.8611:0.1389:0.0:0.0	.	642	Q6PIF6	MYO7B_HUMAN	N	642	ENSP00000374175:K642N;ENSP00000415090:K642N;ENSP00000386461:K642N	ENSP00000374175:K642N	K	+	3	2	MYO7B	128064208	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	1.376000	0.34306	0.886000	0.36113	0.450000	0.29827	AAA		0.512	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		11	21	0	0	0	1	0	11	21					C	128347738	A	C	128347738	3	2	48	1	0	0	0	0	1	0	0	0	10092	11	1	4	1984	4	MYO7B	2	128347738	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	6226871	128347738	114851635	620	5088										
SAP130	79595	broad.mit.edu	37	chr2	128783864	128783864	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgaggaaactgttgagaactCatttccacctgtagtacata	8	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:128783864C>A	ENST00000259235.3	-	2	210	c.81G>T	c.(79-81)atG>atT	p.M27I	SAP130_ENST00000357702.5_Missense_Mutation_p.M27I|SAP130_ENST00000259234.6_Start_Codon_SNP_p.M1I	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	27					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)		GTTGAGAACTCATTTCCACCT	0.423																																						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.(79-81)atG>atT		Sin3A-associated protein, 130kDa							77	82	80					2																	128783864		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128783864C>A	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.81G>T	2.37:g.128783864C>A	ENSP00000259235:p.Met27Ile		Somatic				SAP130_ENST00000259234.6_Start_Codon_SNP_p.M1I|SAP130_ENST00000259235.3_Missense_Mutation_p.M27I	p.M27I	NM_001145928.1	NP_001139400.1	WXS	Illumina GAIIx	Phase_I	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	2	212	-	Colorectal(110;0.1)		27					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.81G>T	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481670	0.84747	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298;ENST00000450957	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.66107	0.2756	L	0.36672	1.1	0.80722	D	1	D;P;P	0.53745	0.962;0.908;0.908	D;P;P	0.66716	0.946;0.888;0.888	T	0.63786	-0.6558	9	0.36615	T	0.2	-23.1093	15.6615	0.77190	0.0:1.0:0.0:0.0	.	27;1;27	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	I	27;27;1;1;1	.	ENSP00000259234:M1I	M	-	3	0	SAP130	128500334	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.722000	0.61958	2.422000	0.82143	0.555000	0.69702	ATG		0.423	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		20	48	1	0	4.35082e-09	1	5.20082e-09	20	48					A	128783864	C	A	128783864	3	1	48	1	0	0	0	0	1	0	0	0	13846	826	29	2	3250	2	SAP130	2	128783864	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	436126	128783864	114415509	621	5089										
TUBA3E	112714	broad.mit.edu	37	chr2	130951526	130951526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaccatctgattggctggctCgaagcaggcattggtgatct	13	9	2	2	rs369136801		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:130951526C>T	ENST00000312988.7	-	4	989	c.889G>A	c.(889-891)Gag>Aag	p.E297K		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	297					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TTGGCTGGCTCGAAGCAGGCA	0.597																																						ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(889-891)Gag>Aag		tubulin, alpha 3e		C	LYS/GLU	0,4406		0,0,2203	134	113	120		889	2.1	1	2		120	1,8595	1.2+/-3.3	0,1,4297	no	missense	TUBA3E	NM_207312.2	56	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	297/451	130951526	1,13001	2203	4298	6501	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951526C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"Tubulins"	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.889G>A	2.37:g.130951526C>T	ENSP00000318197:p.Glu297Lys		Somatic					p.E297K	NM_207312.2	NP_997195.1	WXS	Illumina GAIIx	Phase_I	Q6PEY2	TBA3E_HUMAN			4	989	-	Colorectal(110;0.1)		297						Missense_Mutation	SNP	ENST00000312988.7	37	c.889G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	15.00	2.703202	0.48412	0.0	1.16E-4	ENSG00000152086	ENST00000312988	D	0.84730	-1.89	2.96	2.08	0.27032	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.50627	U	0.000117	D	0.93051	0.7788	H	0.97806	4.08	0.43777	D	0.996306	P	0.51240	0.943	P	0.57283	0.817	D	0.92086	0.5676	10	0.87932	D	0	.	8.0775	0.30724	0.0:0.8704:0.0:0.1296	.	297	Q6PEY2	TBA3E_HUMAN	K	297	ENSP00000318197:E297K	ENSP00000318197:E297K	E	-	1	0	TUBA3E	130667996	0.998000	0.40836	0.995000	0.50966	0.947000	0.59692	3.934000	0.56553	0.582000	0.29556	-0.463000	0.05309	GAG		0.597	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		75	131	0	0	0	1	0	75	131					T	130951526	C	T	130951526	3	4	48	1	0	0	0	0	1	0	0	0	16763	893	31	1	471	1	TUBA3E	2	130951526	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2167662	130951526	112247847	622	5090										
FAM123C	205147	broad.mit.edu	37	chr2	131521461	131521461	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctctcgagaggaagagacaCgaggtcactctgaaggcttg	13	10	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:131521461C>T	ENST00000423981.1	+	2	1926	c.1816C>T	c.(1816-1818)Cga>Tga	p.R606*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.R606*	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	606					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GGAAGAGACACGAGGTCACTC	0.587																																						ENST00000423981.1																			0											c.(1816-1818)Cga>Tga		APC membrane recruitment protein 3							70	75	73					2																	131521461		2203	4300	6503	SO:0001587	stop_gained	205147							g.chr2:131521461C>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.1816C>T	2.37:g.131521461C>T	ENSP00000392700:p.Arg606*		Somatic				AMER3_ENST00000321420.4_Nonsense_Mutation_p.R606*	p.R606*	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	1926	+								B7ZLH6	Nonsense_Mutation	SNP	ENST00000423981.1	37	c.1816C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	37	6.293250	0.97449	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	.	.	.	3.13	3.13	0.36017	.	1.295740	0.06140	U	0.672159	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	9.9852	0.41837	0.0:1.0:0.0:0.0	.	.	.	.	X	606	.	ENSP00000314914:R606X	R	+	1	2	FAM123C	131237931	0.000000	0.05858	0.403000	0.26384	0.052000	0.14988	0.375000	0.20518	2.059000	0.61396	0.561000	0.74099	CGA		0.587	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		39	61	0	0	0	1	0	39	61					T	131521461	C	T	131521461	4	4	48	1	0	0	0	0	0	1	0	0	5429	528	19	1	1818	1	FAM123C	2	131521461	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	569935	131521461	111677912	623	5091										
POTEE	445582	broad.mit.edu	37	chr2	132020932	132020932	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctttgtttacttagctttCtcttagttgtaagaaagaaa	6	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:132020932C>A	ENST00000356920.5	+	15	1998	c.1904C>A	c.(1903-1905)tCt>tAt	p.S635Y	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	635					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											ACTTAGCTTTCTCTTAGTTGT	0.323																																						ENST00000356920.5																			0											c.(1903-1905)tCt>tAt		POTE ankyrin domain family, member E							18	20	19					2																	132020932		1877	4096	5973	SO:0001583	missense	445582						ATP binding	g.chr2:132020932C>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.1904C>A	2.37:g.132020932C>A	ENSP00000439189:p.Ser635Tyr		Somatic				PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	p.S635Y	NM_001083538.1	NP_001077007.1	WXS	Illumina GAIIx	Phase_I	Q6S8J3	POTEE_HUMAN			15	1998	+			635					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.1904C>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	9.692	1.152231	0.21371	.	.	ENSG00000188219	ENST00000356920	T	0.80393	-1.37	0.993	0.993	0.19825	.	.	.	.	.	T	0.77267	0.4105	M	0.83384	2.64	0.09310	N	0.999999	D	0.54964	0.969	B	0.41332	0.354	T	0.70666	-0.4809	9	0.87932	D	0	.	3.305	0.06997	0.0:0.7141:0.0:0.2858	.	635	Q6S8J3	POTEE_HUMAN	Y	635	ENSP00000439189:S635Y	ENSP00000439189:S635Y	S	+	2	0	AC131180.1	131737402	0.000000	0.05858	0.500000	0.27589	0.026000	0.11368	-0.101000	0.10973	0.847000	0.35167	0.184000	0.17185	TCT		0.323	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		6	15	1	0	1.12685e-05	1	1.24509e-05	6	15					A	132020932	C	A	132020932	3	1	48	1	0	0	0	0	1	0	0	0	12273	913	32	2	1962	2	POTEE	2	132020932	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	499471	132020932	111178441	624	5092										
GPR39	2863	broad.mit.edu	37	chr2	133402871	133402871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggtgtcctcgcagcagtttCggcgggtgttcgtgcaggtg	17	10	0	0	rs575186714		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:133402871C>T	ENST00000329321.3	+	2	1523	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	352					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCAGCAGTTTCGGCGGGTGTT	0.632													C|||	1	0.000199681	8e-04	0	5008	,	,		15216	0		0	False		,,,				2504	0					ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1054-1056)Cgg>Tgg		G protein-coupled receptor 39							79	73	75					2																	133402871		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402871C>T	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1054C>T	2.37:g.133402871C>T	ENSP00000327417:p.Arg352Trp		Somatic				GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	p.R352W	NM_001508.2	NP_001499.1	WXS	Illumina GAIIx	Phase_I	O43194	GPR39_HUMAN			2	1523	+			352					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.1054C>T	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934938	0.92458	.	.	ENSG00000183840	ENST00000329321	T	0.58358	0.34	5.3	5.3	0.74995	.	0.059465	0.64402	D	0.000004	T	0.73289	0.3568	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75379	-0.3338	10	0.87932	D	0	.	19.1953	0.93686	0.0:1.0:0.0:0.0	.	352	O43194	GPR39_HUMAN	W	352	ENSP00000327417:R352W	ENSP00000327417:R352W	R	+	1	2	GPR39	133119341	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.947000	0.49058	2.772000	0.95346	0.650000	0.86243	CGG		0.632	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			21	48	0	0	0	1	0	21	48					T	133402871	C	T	133402871	3	4	48	1	0	0	0	0	1	0	0	0	6701	875	31	1	1060	1	GPR39	2	133402871	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1381939	133402871	109796502	625	5093										
NCKAP5	344148	broad.mit.edu	37	chr2	133547778	133547778	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttgtatttagttggtgttCctgaaaaagcaggacagctc	10	6	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:133547778C>T	ENST00000409261.1	-	13	1283	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	NCKAP5_ENST00000405974.3_Splice_Site_p.E304K|NCKAP5_ENST00000409213.1_Splice_Site_p.E304K|NCKAP5_ENST00000317721.6_Splice_Site_p.E304K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	304										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						AGTTGGTGTTCCTGAAAAAGC	0.483																																						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.e13-1		NCK-associated protein 5							56	60	59					2																	133547778		1934	4139	6073	SO:0001630	splice_region_variant	344148						protein binding	g.chr2:133547778C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.910-1G>A	2.37:g.133547778C>T			Somatic				NCKAP5_ENST00000317721.6_Splice_Site_p.E304_splice|NCKAP5_ENST00000409213.1_Splice_Site_p.E304_splice|NCKAP5_ENST00000405974.3_Splice_Site_p.E304_splice	p.E304_splice	NM_207363.2	NP_997246.2	WXS	Illumina GAIIx	Phase_I	O14513	NCKP5_HUMAN			13	1283	-			304					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Splice_Site	SNP	ENST00000409261.1	37	c.909_splice	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	24.9	4.577468	0.86645	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.51325	2.72;0.71;2.72;0.71	5.21	5.21	0.72293	.	0.000000	0.32935	U	0.005474	T	0.58466	0.2124	L	0.29908	0.895	0.42787	D	0.993885	D;B	0.89917	1.0;0.275	D;B	0.85130	0.997;0.067	T	0.60367	-0.7277	10	0.56958	D	0.05	.	17.1294	0.86723	0.0:1.0:0.0:0.0	.	304;304	O14513-2;O14513	.;NCKP5_HUMAN	K	304	ENSP00000387128:E304K;ENSP00000386952:E304K;ENSP00000380603:E304K;ENSP00000385692:E304K	ENSP00000380603:E304K	E	-	1	0	NCKAP5	133264248	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.766000	0.62279	2.712000	0.92718	0.645000	0.84053	GAA		0.483	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	Missense_Mutation	4	16	0	0	0	1	0	4	16					T	133547778	C	T	133547778	5	4	48	1	0	0	0	0	0	0	1	0	10232	869	30	3	4851	3	NCKAP5	2	133547778	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	144907	133547778	109651595	626	5094										
MGAT5	4249	broad.mit.edu	37	chr2	135099273	135099273	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atggagtgatttaattacatCtctgtacttactgggccatg	9	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:135099273C>A	ENST00000409645.1	+	8	1172	c.920C>A	c.(919-921)tCt>tAt	p.S307Y	MGAT5_ENST00000281923.2_Missense_Mutation_p.S307Y			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	307					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)		TTAATTACATCTCTGTACTTA	0.398																																						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.(919-921)tCt>tAt		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							116	108	111					2																	135099273		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.chr2:135099273C>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.920C>A	2.37:g.135099273C>A	ENSP00000386377:p.Ser307Tyr		Somatic				MGAT5_ENST00000281923.2_Missense_Mutation_p.S307Y	p.S307Y			WXS	Illumina GAIIx	Phase_I	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	8	1172	+			307					D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.920C>A	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241996	0.79912	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.45	5.45	0.79879	.	0.052641	0.85682	D	0.000000	T	0.64427	0.2597	L	0.58101	1.795	0.80722	D	1	D	0.54207	0.965	P	0.48141	0.568	T	0.69146	-0.5222	9	0.87932	D	0	-16.9167	19.2882	0.94087	0.0:1.0:0.0:0.0	.	307	Q09328	MGT5A_HUMAN	Y	307	.	ENSP00000281923:S307Y	S	+	2	0	MGAT5	134815743	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.810000	0.86072	2.556000	0.86216	0.313000	0.20887	TCT		0.398	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		6	35	1	0	8.12818e-05	1	8.79784e-05	6	35					A	135099273	C	A	135099273	3	1	48	1	0	0	0	0	1	0	0	0	9557	913	32	2	946	2	MGAT5	2	135099273	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1551495	135099273	108100100	627	5095										
ZRANB3	84083	broad.mit.edu	37	chr2	135965024	135965024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgttctaatgggagctttgAagtccaggtagcatacagaa	11	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:135965024A>G	ENST00000264159.6	-	19	3105	c.2989T>C	c.(2989-2991)Tca>Cca	p.S997P	ZRANB3_ENST00000401392.1_Missense_Mutation_p.S995P|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.S995P	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	997					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)		GGGAGCTTTGAAGTCCAGGTA	0.378																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(2983-2985)Tca>Cca		zinc finger, RAN-binding domain containing 3							190	181	184					2																	135965024		1871	4109	5980	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135965024A>G	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.2989T>C	2.37:g.135965024A>G	ENSP00000264159:p.Ser997Pro		Somatic				ZRANB3_ENST00000536680.1_Missense_Mutation_p.S995P|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Missense_Mutation_p.S997P	p.S995P			WXS	Illumina GAIIx	Phase_I	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	19	3195	-			997					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.2983T>C	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.558004	0.65538	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.91351	-2.83;-2.83;-2.81	5.81	3.36	0.38483	HNH nuclease (1);	0.466802	0.23074	N	0.052240	D	0.92014	0.7470	M	0.68317	2.08	0.32635	N	0.521437	D;D	0.63880	0.987;0.993	P;P	0.58130	0.685;0.833	D	0.91456	0.5185	10	0.59425	D	0.04	-6.2817	7.5977	0.28058	0.5897:0.2723:0.0:0.1381	.	997;995	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	P	460;460;995;997;995	ENSP00000383979:S995P;ENSP00000264159:S997P;ENSP00000441320:S995P	ENSP00000264159:S997P	S	-	1	0	ZRANB3	135681494	0.719000	0.27986	0.971000	0.41717	0.966000	0.64601	1.475000	0.35409	0.419000	0.25927	-0.438000	0.05819	TCA		0.378	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		13	123	0	0	0	1	0	13	123					G	135965024	A	G	135965024	3	3	48	1	0	0	0	0	1	0	0	0	18239	246	9	4	262	4	ZRANB3	2	135965024	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	865751	135965024	107234349	628	5096										
ZRANB3	84083	broad.mit.edu	37	chr2	135988495	135988495	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcatgctgtttttctttttcGaactaggaaaagcaaacagt	7	7	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:135988495G>A	ENST00000264159.6	-	13	1658	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	ZRANB3_ENST00000401392.1_Silent_p.F514F|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Silent_p.F514F	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	514					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)		TTTCTTTTTCGAACTAGGAAA	0.323																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(1540-1542)ttC>ttT		zinc finger, RAN-binding domain containing 3							40	38	39					2																	135988495		1814	4071	5885	SO:0001819	synonymous_variant	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135988495G>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.1542C>T	2.37:g.135988495G>A			Somatic				ZRANB3_ENST00000536680.1_Silent_p.F514F|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Silent_p.F514F	p.F514F			WXS	Illumina GAIIx	Phase_I	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	13	1754	-			514					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Silent	SNP	ENST00000264159.6	37	c.1542C>T	CCDS46419.1																																																																																				0.323	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		9	8	0	0	0	1	0	9	8					A	135988495	G	A	135988495	2	1	48	1	0	0	0	0	0	0	0	1	18239	1049	37	1		1	ZRANB3	2	135988495	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	23471	135988495	107210878	629	5097										
MCM6	4175	broad.mit.edu	37	chr2	136598517	136598517	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggtgagctcaattagaacaTgatcctgtgaaacacaaata	9	7	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:136598517T>C	ENST00000264156.2	-	17	2414	c.2354A>G	c.(2353-2355)cAt>cGt	p.H785R		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	785					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)		AATTAGAACATGATCCTGTGA	0.423																																					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.(2353-2355)cAt>cGt		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						97	89	92					2																	136598517		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.chr2:136598517T>C		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.2354A>G	2.37:g.136598517T>C	ENSP00000264156:p.His785Arg		Somatic					p.H785R	NM_005915.5	NP_005906.2	WXS	Illumina GAIIx	Phase_I	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	17	2414	-			785					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.2354A>G	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.864637	0.32977	.	.	ENSG00000076003	ENST00000264156	T	0.02890	4.12	5.25	5.25	0.73442	.	0.097389	0.64402	D	0.000001	T	0.05593	0.0147	M	0.71581	2.175	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27606	-1.0069	10	0.25106	T	0.35	-16.7301	15.1112	0.72359	0.0:0.0:0.0:1.0	.	785	Q14566	MCM6_HUMAN	R	785	ENSP00000264156:H785R	ENSP00000264156:H785R	H	-	2	0	MCM6	136314987	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.453000	0.80700	2.106000	0.64143	0.528000	0.53228	CAT		0.423	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		21	28	0	0	0	1	0	21	28					C	136598517	T	C	136598517	3	2	48	1	0	0	0	0	1	0	0	0	9400	1464	51	4	115	4	MCM6	2	136598517	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	610022	136598517	106600856	630	5098										
DARS	1615	broad.mit.edu	37	chr2	136673886	136673886	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcttagagttggctccaaaAatttgaatggctcacatggg	11	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:136673886A>C	ENST00000264161.4	-	11	1231	c.1016T>G	c.(1015-1017)tTt>tGt	p.F339C	DARS_ENST00000537273.1_Missense_Mutation_p.F239C	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	339					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	TGGCTCCAAAAATTTGAATGG	0.363																																						ENST00000264161.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15						c.(1015-1017)tTt>tGt		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						135	134	134					2																	136673886		2203	4300	6503	SO:0001583	missense	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136673886A>C	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	2678	protein-coding gene	gene with protein product	"aspartate tRNA ligase 1, cytoplasmic"	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.1016T>G	2.37:g.136673886A>C	ENSP00000264161:p.Phe339Cys		Somatic				DARS_ENST00000537273.1_Missense_Mutation_p.F239C	p.F339C	NM_001349.2	NP_001340.2	WXS	Illumina GAIIx	Phase_I	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	11	1231	-			339					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP	ENST00000264161.4	37	c.1016T>G	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	A	19.73	3.881847	0.72294	.	.	ENSG00000115866	ENST00000264161;ENST00000422708;ENST00000537273	T;T;T	0.65364	0.99;-0.15;0.99	5.43	4.26	0.50523	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.043673	0.85682	D	0.000000	D	0.83903	0.5355	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87201	0.2241	10	0.87932	D	0	-10.2063	12.0264	0.53373	0.8705:0.0:0.0:0.1295	.	339	P14868	SYDC_HUMAN	C	339;53;239	ENSP00000264161:F339C;ENSP00000387508:F53C;ENSP00000444192:F239C	ENSP00000264161:F339C	F	-	2	0	DARS	136390356	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.883000	0.69721	0.973000	0.38340	0.528000	0.53228	TTT		0.363	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		6	67	0	0	0	1	0	6	67					C	136673886	A	C	136673886	3	2	48	1	0	0	0	0	1	0	0	0	4243	14	1	4	513	4	DARS	2	136673886	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	75369	136673886	106525487	631	5099										
LRP1B	53353	broad.mit.edu	37	chr2	141081612	141081612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatataatcttcaaagatatCgatcctatgtggatgtaata	6	5	2	1	rs201307818		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141081612C>T	ENST00000389484.3	-	81	13335	c.12364G>A	c.(12364-12366)Gat>Aat	p.D4122N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4122					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)		TCAAAGATATCGATCCTATGT	0.303										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.(12364-12366)Gat>Aat		low density lipoprotein receptor-related protein 1B							50	56	54					2																	141081612		2202	4287	6489	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141081612C>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.12364G>A	2.37:g.141081612C>T	ENSP00000374135:p.Asp4122Asn	TSP Lung(27;0.18)	Somatic					p.D4122N	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)	81	13335	-		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)	4122					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12364G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178564	0.78564	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91124	-2.79	5.69	5.69	0.88448	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.170776	0.40222	U	0.001143	D	0.95456	0.8524	M	0.77313	2.365	0.51767	D	0.999939	D	0.89917	1.0	D	0.77557	0.99	D	0.94922	0.8074	10	0.52906	T	0.07	.	19.8182	0.96579	0.0:1.0:0.0:0.0	.	4122	Q9NZR2	LRP1B_HUMAN	N	4122;4060	ENSP00000374135:D4122N	ENSP00000374135:D4122N	D	-	1	0	LRP1B	140798082	1.000000	0.71417	1.000000	0.80357	0.212000	0.24457	7.469000	0.80959	2.687000	0.91594	0.563000	0.77884	GAT		0.303	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		11	21	0	0	0	1	0	11	21					T	141081612	C	T	141081612	3	4	48	1	0	0	0	0	1	0	0	0	8964	884	31	1	1479	1	LRP1B	2	141081612	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4407726	141081612	102117761	632	5100										
LRP1B	53353	broad.mit.edu	37	chr2	141128753	141128753	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacaatatattttacctcatCtgaaccatcagcacaatcat	2	11	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141128753C>A	ENST00000389484.3	-	70	11841	c.10870G>T	c.(10870-10872)Gat>Tat	p.D3624Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3624	LDL-receptor class A 28. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		tttaCCTCATCTGAACCATCA	0.299										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.(10870-10872)Gat>Tat		low density lipoprotein receptor-related protein 1B							29	29	29					2																	141128753		2201	4291	6492	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141128753C>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.10870G>T	2.37:g.141128753C>A	ENSP00000374135:p.Asp3624Tyr	TSP Lung(27;0.18)	Somatic					p.D3624Y	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)	70	11841	-		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)	3624			LDL-receptor class A 28.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10870G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572527	0.86542	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99232	-5.6	5.2	5.2	0.72013	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99760	0.9903	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96802	0.9590	10	0.87932	D	0	.	19.0906	0.93225	0.0:1.0:0.0:0.0	.	3624	Q9NZR2	LRP1B_HUMAN	Y	3624;3562	ENSP00000374135:D3624Y	ENSP00000374135:D3624Y	D	-	1	0	LRP1B	140845223	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.412000	0.80091	2.578000	0.87016	0.591000	0.81541	GAT		0.299	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		8	10	1	0	0.00448238	1	0.00465112	8	10					A	141128753	C	A	141128753	3	1	48	1	0	0	0	0	1	0	0	0	8964	913	32	2	3017	2	LRP1B	2	141128753	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	47141	141128753	102070620	633	5101										
LRP1B	53353	broad.mit.edu	37	chr2	141298598	141298598	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctgcaggaacaattcactCtcccattgggagttaaaagg	9	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141298598C>A	ENST00000389484.3	-	45	8428	c.7457G>T	c.(7456-7458)aGa>aTa	p.R2486I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2486	EGF-like 10. {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)		ACAATTCACTCTCCCATTGGG	0.403										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.(7456-7458)aGa>aTa		low density lipoprotein receptor-related protein 1B							145	135	138					2																	141298598		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141298598C>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.7457G>T	2.37:g.141298598C>A	ENSP00000374135:p.Arg2486Ile	TSP Lung(27;0.18)	Somatic					p.R2486I	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)	45	8428	-		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)	2486					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7457G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124838	0.56613	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90069	-2.61	5.72	3.93	0.45458	Epidermal growth factor-like (1);	0.122377	0.53938	D	0.000060	D	0.85026	0.5603	L	0.52364	1.645	0.50039	D	0.999844	P	0.46706	0.883	B	0.42555	0.391	T	0.80405	-0.1396	10	0.20046	T	0.44	.	12.2494	0.54589	0.0:0.8623:0.0:0.1377	.	2486	Q9NZR2	LRP1B_HUMAN	I	2486;2424	ENSP00000374135:R2486I	ENSP00000374135:R2486I	R	-	2	0	LRP1B	141015068	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	3.095000	0.50235	0.771000	0.33359	-0.140000	0.14226	AGA		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		28	56	1	0	3.65163e-15	1	4.79858e-15	28	56					A	141298598	C	A	141298598	3	1	48	1	0	0	0	0	1	0	0	0	8964	913	32	2	6530	2	LRP1B	2	141298598	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	169845	141298598	101900775	634	5102										
LRP1B	53353	broad.mit.edu	37	chr2	141607716	141607716	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agttccgttaataaaagctcGtttaatggtttgtgttttaa	8	4	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141607716G>A	ENST00000389484.3	-	29	5865	c.4894C>T	c.(4894-4896)Cga>Tga	p.R1632*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1632					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)		ATAAAAGCTCGTTTAATGGTT	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.(4894-4896)Cga>Tga		low density lipoprotein receptor-related protein 1B							175	182	180					2																	141607716		2203	4300	6503	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141607716G>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.4894C>T	2.37:g.141607716G>A	ENSP00000374135:p.Arg1632*	TSP Lung(27;0.18)	Somatic					p.R1632*	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)	29	5865	-		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)	1632					Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.4894C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	49	14.982488	0.99818	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	.	.	.	5.32	4.42	0.53409	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6951	0.56999	0.0:0.0:0.574:0.426	.	.	.	.	X	1632;1570;777	.	ENSP00000374135:R1632X	R	-	1	2	LRP1B	141324186	1.000000	0.71417	0.985000	0.45067	0.383000	0.30230	3.803000	0.55560	1.215000	0.43411	0.313000	0.20887	CGA		0.338	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		26	42	0	0	0	1	0	26	42					A	141607716	G	A	141607716	4	1	48	1	0	0	0	0	0	1	0	0	8964	1153	40	1	9157	1	LRP1B	2	141607716	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	309118	141607716	101591657	635	5103										
LRP1B	53353	broad.mit.edu	37	chr2	141641477	141641477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccatctagtttggccacttCgatttggtccagattgctgt	10	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141641477C>T	ENST00000389484.3	-	25	5049	c.4078G>A	c.(4078-4080)Gaa>Aaa	p.E1360K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1360					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)		TTGGCCACTTCGATTTGGTCC	0.498										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.(4078-4080)Gaa>Aaa		low density lipoprotein receptor-related protein 1B							188	179	182					2																	141641477		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141641477C>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.4078G>A	2.37:g.141641477C>T	ENSP00000374135:p.Glu1360Lys	TSP Lung(27;0.18)	Somatic					p.E1360K	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)	25	5049	-		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)	1360					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4078G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163142	0.78226	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.89415	-2.51;-2.51	5.64	5.64	0.86602	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95595	0.8568	M	0.88181	2.935	0.80722	D	1	B;D	0.89917	0.231;1.0	B;D	0.83275	0.103;0.996	D	0.95069	0.8202	10	0.51188	T	0.08	.	20.0553	0.97649	0.0:1.0:0.0:0.0	.	543;1360	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	K	1360;1298;505	ENSP00000374135:E1360K;ENSP00000413239:E505K	ENSP00000374135:E1360K	E	-	1	0	LRP1B	141357947	1.000000	0.71417	0.968000	0.41197	0.596000	0.36781	7.707000	0.84623	2.803000	0.96430	0.655000	0.94253	GAA		0.498	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		35	56	0	0	0	1	0	35	56					T	141641477	C	T	141641477	3	4	48	1	0	0	0	0	1	0	0	0	8964	893	31	1	9989	1	LRP1B	2	141641477	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	33761	141641477	101557896	636	5104										
KYNU	8942	broad.mit.edu	37	chr2	143798010	143798010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccacagatctttaagcaagCgacaatgaaggcattgcgga	10	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:143798010C>T	ENST00000264170.4	+	13	1313	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	KYNU_ENST00000409512.1_Missense_Mutation_p.A352V	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TTTAAGCAAGCGACAATGAAG	0.338																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(1054-1056)gCg>gTg		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						73	73	73					2																	143798010		2203	4299	6502	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143798010C>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.1055C>T	2.37:g.143798010C>T	ENSP00000264170:p.Ala352Val		Somatic				KYNU_ENST00000409512.1_Missense_Mutation_p.A352V	p.A352V	NM_003937.2	NP_003928.1	WXS	Illumina GAIIx	Phase_I	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	13	1313	+			352						Missense_Mutation	SNP	ENST00000264170.4	37	c.1055C>T	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.355065	0.41700	.	.	ENSG00000115919	ENST00000264170;ENST00000409512	D;D	0.86432	-2.12;-2.12	5.81	5.81	0.92471	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.053159	0.85682	D	0.000000	T	0.74329	0.3702	N	0.12637	0.245	0.80722	D	1	P	0.43024	0.798	B	0.28916	0.096	T	0.75221	-0.3394	10	0.23891	T	0.37	.	20.0782	0.97758	0.0:1.0:0.0:0.0	.	352	Q16719	KYNU_HUMAN	V	352	ENSP00000264170:A352V;ENSP00000386731:A352V	ENSP00000264170:A352V	A	+	2	0	KYNU	143514480	1.000000	0.71417	0.993000	0.49108	0.181000	0.23173	7.246000	0.78247	2.746000	0.94184	0.655000	0.94253	GCG		0.338	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		12	22	0	0	0	1	0	12	22					T	143798010	C	T	143798010	3	4	48	1	0	0	0	0	1	0	0	0	8596	768	27	1	1127	1	KYNU	2	143798010	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2156533	143798010	99401363	637	5105										
MBD5	55777	broad.mit.edu	37	chr2	149220204	149220204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggttaaaacatacctgcttaCtgatggaacatgcaagtgtg	10	7	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:149220204C>T	ENST00000407073.1	+	7	1164	c.167C>T	c.(166-168)aCt>aTt	p.T56I	MBD5_ENST00000404807.1_Missense_Mutation_p.T56I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	56	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TACCTGCTTACTGATGGAACA	0.353																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(166-168)aCt>aTt		methyl-CpG binding domain protein 5							140	135	137					2																	149220204		2203	4300	6503	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149220204C>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.167C>T	2.37:g.149220204C>T	ENSP00000386049:p.Thr56Ile		Somatic				MBD5_ENST00000404807.1_Missense_Mutation_p.T56I	p.T56I	NM_018328.4	NP_060798.2	WXS	Illumina GAIIx	Phase_I	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	7	1164	+			56			MBD.		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.167C>T	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545329	0.86022	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.54479	0.59;0.57	5.83	5.83	0.93111	Methyl-CpG DNA binding (1);	0.000000	0.64402	D	0.000006	T	0.72518	0.3470	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.73193	-0.4060	10	0.87932	D	0	-7.9962	20.1338	0.98010	0.0:1.0:0.0:0.0	.	56	Q9P267	MBD5_HUMAN	I	56	ENSP00000386049:T56I;ENSP00000384672:T56I	ENSP00000384672:T56I	T	+	2	0	MBD5	148936674	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.770000	0.85390	2.770000	0.95276	0.655000	0.94253	ACT		0.353	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			12	41	0	0	0	1	0	12	41					T	149220204	C	T	149220204	3	4	48	1	0	0	0	0	1	0	0	0	9356	565	20	3	173	3	MBD5	2	149220204	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5422194	149220204	93979169	638	5106										
MBD5	55777	broad.mit.edu	37	chr2	149226980	149226980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctagtggtattaaggttccaCccaggtcaccaaggtcaaca	9	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:149226980C>T	ENST00000407073.1	+	9	2465	c.1468C>T	c.(1468-1470)Ccc>Tcc	p.P490S	MBD5_ENST00000404807.1_Missense_Mutation_p.P490S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	490					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TAAGGTTCCACCCAGGTCACC	0.493																																						ENST00000407073.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(1468-1470)Ccc>Tcc		methyl-CpG binding domain protein 5							77	78	78					2																	149226980		2203	4300	6503	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149226980C>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.1468C>T	2.37:g.149226980C>T	ENSP00000386049:p.Pro490Ser		Somatic				MBD5_ENST00000404807.1_Missense_Mutation_p.P490S	p.P490S	NM_018328.4	NP_060798.2	WXS	Illumina GAIIx	Phase_I	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	2465	+			490					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.1468C>T	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432734	0.25813	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.58797	0.36;0.31	4.92	4.92	0.64577	.	0.000000	0.53938	D	0.000041	T	0.41236	0.1150	N	0.14661	0.345	0.58432	D	0.999992	B	0.22541	0.071	B	0.28011	0.085	T	0.30504	-0.9976	10	0.34782	T	0.22	-3.0746	11.9301	0.52841	0.0:0.9199:0.0:0.0801	.	490	Q9P267	MBD5_HUMAN	S	490	ENSP00000386049:P490S;ENSP00000384672:P490S	ENSP00000384672:P490S	P	+	1	0	MBD5	148943450	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.419000	0.59835	2.445000	0.82738	0.655000	0.94253	CCC		0.493	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			11	67	0	0	0	1	0	11	67					T	149226980	C	T	149226980	3	4	48	1	0	0	0	0	1	0	0	0	9356	507	18	3	1482	3	MBD5	2	149226980	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	6776	149226980	93972393	639	5107										
KIF5C	3800	broad.mit.edu	37	chr2	149679780	149679780	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggtttacaatgcatgtgcGaagcaaattgtcaaaggtaa	10	6	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:149679780G>A	ENST00000435030.1	+	2	569	c.201G>A	c.(199-201)gcG>gcA	p.A67A				O60282	KIF5C_HUMAN	kinesin family member 5C	67	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)		ATGCATGTGCGAAGCAAATTG	0.413																																						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.(199-201)gcG>gcA		kinesin family member 5C							99	99	99					2																	149679780		1901	4141	6042	SO:0001819	synonymous_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149679780G>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.201G>A	2.37:g.149679780G>A			Somatic					p.A67A			WXS	Illumina GAIIx	Phase_I	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	2	569	+			67			Kinesin-motor.		O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37	c.201G>A																																																																																					0.413	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		15	20	0	0	0	1	0	15	20					A	149679780	G	A	149679780	2	1	48	1	0	0	0	0	0	0	0	1	8316	1045	37	1		1	KIF5C	2	149679780	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	452800	149679780	93519593	640	5108										
KIF5C	3800	broad.mit.edu	37	chr2	149793854	149793854	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccacgaattgcccatgatatCtttgaccatatctactccat	4	13	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:149793854C>A	ENST00000435030.1	+	4	716	c.348C>A	c.(346-348)atC>atA	p.I116I	KIF5C_ENST00000414838.2_Silent_p.I21I			O60282	KIF5C_HUMAN	kinesin family member 5C	116	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)	p.I116I(1)|p.I19I(1)		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)		CCCATGATATCTTTGACCATA	0.493																																						ENST00000435030.1																			2	Substitution - coding silent(2)	p.I116I(1)|p.I19I(1)	large_intestine(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(346-348)atC>atA		kinesin family member 5C							49	47	48					2																	149793854		1943	4193	6136	SO:0001819	synonymous_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149793854C>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.348C>A	2.37:g.149793854C>A			Somatic				KIF5C_ENST00000414838.2_Silent_p.I21I	p.I116I			WXS	Illumina GAIIx	Phase_I	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	4	716	+			116			Kinesin-motor.		O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37	c.348C>A																																																																																					0.493	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		3	6	1	0	0.115264	1	0.116507	3	6					A	149793854	C	A	149793854	2	1	48	1	0	0	0	0	0	0	0	1	8316	903	32	2		2	KIF5C	2	149793854	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	114074	149793854	93405519	641	5109										
KIF5C	3800	broad.mit.edu	37	chr2	149818500	149818500	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccagagctaagaccatcaaGaatacagtctctgtgaacct	7	12	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:149818500G>T	ENST00000435030.1	+	11	1352	c.984G>T	c.(982-984)aaG>aaT	p.K328N	KIF5C_ENST00000397413.1_Missense_Mutation_p.K96N|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.K233N			O60282	KIF5C_HUMAN	kinesin family member 5C	328					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)		AGACCATCAAGAATACAGTCT	0.358																																						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.(982-984)aaG>aaT		kinesin family member 5C							113	103	106					2																	149818500		1823	4093	5916	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149818500G>T	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.984G>T	2.37:g.149818500G>T	ENSP00000393379:p.Lys328Asn		Somatic				KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Missense_Mutation_p.K96N|KIF5C_ENST00000414838.2_Missense_Mutation_p.K233N	p.K328N			WXS	Illumina GAIIx	Phase_I	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	11	1352	+			328			Kinesin-motor.		O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.984G>T		.	.	.	.	.	.	.	.	.	.	G	22.6	4.311810	0.81358	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000450621;ENST00000397413	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	4.83	4.83	0.62350	Kinesin, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.82162	0.4977	.	.	.	0.58432	D	0.999999	D	0.54397	0.966	P	0.54140	0.743	D	0.84685	0.0719	9	0.66056	D	0.02	.	18.1903	0.89805	0.0:0.0:1.0:0.0	.	328	O60282	KIF5C_HUMAN	N	328;233;231;45;96	ENSP00000393379:K328N;ENSP00000410115:K233N;ENSP00000393270:K45N;ENSP00000380560:K96N	ENSP00000334176:K231N	K	+	3	2	KIF5C	149526746	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.963000	0.56773	2.516000	0.84829	0.632000	0.83419	AAG		0.358	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		29	50	1	0	9.65021e-13	1	1.22324e-12	29	50					T	149818500	G	T	149818500	3	4	48	1	0	0	0	0	1	0	0	0	8316	933	33	2	948	2	KIF5C	2	149818500	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	24646	149818500	93380873	642	5110										
RBM43	375287	broad.mit.edu	37	chr2	152107545	152107545	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacttcaaggtatctcgaacTtaattgttcacatgcccttt	6	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152107545T>G	ENST00000331426.5	-	4	1100	c.949A>C	c.(949-951)Agt>Cgt	p.S317R		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	317							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TATCTCGAACTTAATTGTTCA	0.343																																						ENST00000331426.5																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.(949-951)Agt>Cgt		RNA binding motif protein 43							159	155	157					2																	152107545		2203	4300	6503	SO:0001583	missense	375287						nucleotide binding|RNA binding	g.chr2:152107545T>G	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"RNA binding motif (RRM) containing"	24790	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 38"	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.949A>C	2.37:g.152107545T>G	ENSP00000331211:p.Ser317Arg		Somatic					p.S317R	NM_198557.2	NP_940959.1	WXS	Illumina GAIIx	Phase_I	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	4	1100	-			317					B2RMT5	Missense_Mutation	SNP	ENST00000331426.5	37	c.949A>C	CCDS2191.1	.	.	.	.	.	.	.	.	.	.	T	8.340	0.828526	0.16749	.	.	ENSG00000184898	ENST00000331426	T	0.44482	0.92	5.48	-7.63	0.01290	.	1.841870	0.02144	N	0.057440	T	0.21347	0.0514	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.11641	-1.0579	10	0.16420	T	0.52	5.4461	1.0709	0.01621	0.2478:0.2089:0.3541:0.1892	.	317	Q6ZSC3	RBM43_HUMAN	R	317	ENSP00000331211:S317R	ENSP00000331211:S317R	S	-	1	0	RBM43	151815791	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.599000	0.05700	-1.336000	0.02238	-0.250000	0.11733	AGT		0.343	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557		13	29	0	0	0	1	0	13	29					G	152107545	T	G	152107545	3	3	48	1	0	0	0	0	1	0	0	0	13152	1609	56	4	128	4	RBM43	2	152107545	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2289045	152107545	91091828	643	5111										
RBM43	375287	broad.mit.edu	37	chr2	152107614	152107614	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccttccaaaataaatgtctCttttctaagctttaagtaaa	3	8	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152107614C>A	ENST00000331426.5	-	4	1031	c.880G>T	c.(880-882)Gag>Tag	p.E294*		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	294							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		ATAAATGTCTCTTTTCTAAGC	0.348																																						ENST00000331426.5																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.(880-882)Gag>Tag		RNA binding motif protein 43							96	94	95					2																	152107614		2203	4300	6503	SO:0001587	stop_gained	375287						nucleotide binding|RNA binding	g.chr2:152107614C>A	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"RNA binding motif (RRM) containing"	24790	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 38"	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.880G>T	2.37:g.152107614C>A	ENSP00000331211:p.Glu294*		Somatic					p.E294*	NM_198557.2	NP_940959.1	WXS	Illumina GAIIx	Phase_I	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	4	1031	-			294					B2RMT5	Nonsense_Mutation	SNP	ENST00000331426.5	37	c.880G>T	CCDS2191.1	.	.	.	.	.	.	.	.	.	.	C	36	5.726741	0.96847	.	.	ENSG00000184898	ENST00000331426	.	.	.	5.48	4.59	0.56863	.	0.072078	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.9213	13.8611	0.63561	0.0:0.8475:0.1525:0.0	.	.	.	.	X	294	.	ENSP00000331211:E294X	E	-	1	0	RBM43	151815860	1.000000	0.71417	0.997000	0.53966	0.767000	0.43475	2.953000	0.49105	1.528000	0.49103	-0.176000	0.13171	GAG		0.348	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557		14	23	1	0	1.05317e-09	1	1.27574e-09	14	23					A	152107614	C	A	152107614	4	1	48	1	0	0	0	0	0	1	0	0	13152	922	32	2	197	2	RBM43	2	152107614	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	69	152107614	91091759	644	5112										
RIF1	55183	broad.mit.edu	37	chr2	152273332	152273332	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttttttaggtatccagtatAattgattcattagaaatact	6	4	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152273332A>C	ENST00000243326.5	+	5	903	c.420A>C	c.(418-420)atA>atC	p.I140I	RIF1_ENST00000444746.2_Silent_p.I140I|RIF1_ENST00000433166.2_Silent_p.I140I|RIF1_ENST00000428287.2_Silent_p.I140I|RIF1_ENST00000430328.2_Silent_p.I140I|RIF1_ENST00000453091.2_Silent_p.I140I			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)		TATCCAGTATAATTGATTCAT	0.289																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(418-420)atA>atC		RAP1 interacting factor homolog (yeast)							137	135	135					2																	152273332		2203	4300	6503	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152273332A>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.420A>C	2.37:g.152273332A>C			Somatic				RIF1_ENST00000433166.2_Silent_p.I140I|RIF1_ENST00000428287.2_Silent_p.I140I|RIF1_ENST00000453091.2_Silent_p.I140I|RIF1_ENST00000444746.2_Silent_p.I140I|RIF1_ENST00000430328.2_Silent_p.I140I	p.I140I			WXS	Illumina GAIIx	Phase_I	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	5	903	+			140					A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.420A>C	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	9.909	1.209008	0.22205	.	.	ENSG00000080345	ENST00000414861	.	.	.	5.76	-1.69	0.08186	.	.	.	.	.	T	0.54319	0.1851	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48547	-0.9026	4	.	.	.	-23.6144	9.0362	0.36289	0.261:0.1071:0.0:0.6319	.	.	.	.	H	132	.	.	N	+	1	0	RIF1	151981578	0.991000	0.36638	0.975000	0.42487	0.989000	0.77384	0.299000	0.19138	-0.418000	0.07450	-0.344000	0.07964	AAT		0.289	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			23	29	0	0	0	1	0	23	29					C	152273332	A	C	152273332	2	2	48	1	0	0	0	0	0	0	0	1	13374	352	13	4		4	RIF1	2	152273332	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	165718	152273332	90926041	645	5113										
RIF1	55183	broad.mit.edu	37	chr2	152303026	152303026	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggtggcaacagcagaagaGaacttgtgctgtgaggaact	14	6	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152303026G>T	ENST00000243326.5	+	19	2664	c.2181G>T	c.(2179-2181)gaG>gaT	p.E727D	RIF1_ENST00000444746.2_Missense_Mutation_p.E727D|RIF1_ENST00000428287.2_Missense_Mutation_p.E727D|RIF1_ENST00000430328.2_Missense_Mutation_p.E727D|RIF1_ENST00000453091.2_Missense_Mutation_p.E727D			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)		CAGCAGAAGAGAACTTGTGCT	0.408																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(2179-2181)gaG>gaT		RAP1 interacting factor homolog (yeast)							169	164	166					2																	152303026		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152303026G>T	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.2181G>T	2.37:g.152303026G>T	ENSP00000243326:p.Glu727Asp		Somatic				RIF1_ENST00000428287.2_Missense_Mutation_p.E727D|RIF1_ENST00000453091.2_Missense_Mutation_p.E727D|RIF1_ENST00000444746.2_Missense_Mutation_p.E727D|RIF1_ENST00000430328.2_Missense_Mutation_p.E727D	p.E727D			WXS	Illumina GAIIx	Phase_I	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	19	2664	+			727					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.2181G>T	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.16|14.16	2.453007|2.453007	0.43531|0.43531	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	D;D;D;D;D|.	0.98914|.	-5.23;-5.23;-5.23;-5.23;-5.23|.	5.45|5.45	1.07|1.07	0.20283|0.20283	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.60130|.	0.2245|.	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	P;P|.	0.37500|.	0.528;0.597|.	B;B|.	0.40506|.	0.287;0.331|.	T|.	0.55509|.	-0.8130|.	10|.	0.32370|0.45353	T|T	0.25|0.12	-7.7129|-7.7129	5.5656|5.5656	0.17168|0.17168	0.4569:0.1409:0.4022:0.0|0.4569:0.1409:0.4022:0.0	.|.	727;727|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	D|X	727|719	ENSP00000390181:E727D;ENSP00000414615:E727D;ENSP00000415691:E727D;ENSP00000243326:E727D;ENSP00000416123:E727D|.	ENSP00000243326:E727D|ENSP00000390486:E719X	E|E	+|+	3|1	2|0	RIF1|RIF1	152011272|152011272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.547000|1.547000	0.36190|0.36190	0.278000|0.278000	0.22164|0.22164	0.655000|0.655000	0.94253|0.94253	GAG|GAA		0.408	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			23	46	1	0	1.10513e-12	1	1.40022e-12	23	46					T	152303026	G	T	152303026	3	4	48	1	0	0	0	0	1	0	0	0	13374	933	33	2	2255	2	RIF1	2	152303026	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	29694	152303026	90896347	646	5114										
RIF1	55183	broad.mit.edu	37	chr2	152320659	152320659	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtatcaaactagaagagcatCtcagggtttgctttccagca	9	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152320659C>A	ENST00000243326.5	+	29	5108	c.4625C>A	c.(4624-4626)tCt>tAt	p.S1542Y	RIF1_ENST00000444746.2_Missense_Mutation_p.S1542Y|RIF1_ENST00000428287.2_Missense_Mutation_p.S1542Y|RIF1_ENST00000430328.2_Missense_Mutation_p.S1542Y|RIF1_ENST00000453091.2_Missense_Mutation_p.S1542Y			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)		AGAAGAGCATCTCAGGGTTTG	0.428																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(4624-4626)tCt>tAt		RAP1 interacting factor homolog (yeast)							61	61	61					2																	152320659		2200	4296	6496	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152320659C>A	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.4625C>A	2.37:g.152320659C>A	ENSP00000243326:p.Ser1542Tyr		Somatic				RIF1_ENST00000428287.2_Missense_Mutation_p.S1542Y|RIF1_ENST00000453091.2_Missense_Mutation_p.S1542Y|RIF1_ENST00000444746.2_Missense_Mutation_p.S1542Y|RIF1_ENST00000430328.2_Missense_Mutation_p.S1542Y	p.S1542Y			WXS	Illumina GAIIx	Phase_I	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	5108	+			1542					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.4625C>A	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876871	0.72180	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	5.55	5.55	0.83447	.	0.120124	0.64402	D	0.000017	T	0.66287	0.2774	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.68716	-0.5335	10	0.87932	D	0	-7.2049	19.0943	0.93244	0.0:1.0:0.0:0.0	.	1542;1542	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	Y	1542	ENSP00000390181:S1542Y;ENSP00000414615:S1542Y;ENSP00000415691:S1542Y;ENSP00000243326:S1542Y;ENSP00000416123:S1542Y	ENSP00000243326:S1542Y	S	+	2	0	RIF1	152028905	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.967000	0.70403	2.595000	0.87683	0.557000	0.71058	TCT		0.428	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			18	37	1	0	6.94344e-10	1	8.4399e-10	18	37					A	152320659	C	A	152320659	3	1	48	1	0	0	0	0	1	0	0	0	13374	913	32	2	4739	2	RIF1	2	152320659	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	17633	152320659	90878714	647	5115										
RIF1	55183	broad.mit.edu	37	chr2	152325056	152325056	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctaaatttaagagctcaaaGaagtgtttagtaagaagtgc	9	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152325056G>T	ENST00000243326.5	+	31	7299	c.6816G>T	c.(6814-6816)aaG>aaT	p.K2272N	RIF1_ENST00000444746.2_Missense_Mutation_p.K2272N|RIF1_ENST00000428287.2_Intron|RIF1_ENST00000430328.2_Intron|RIF1_ENST00000453091.2_Intron			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)		AGAGCTCAAAGAAGTGTTTAG	0.358																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(6814-6816)aaG>aaT		RAP1 interacting factor homolog (yeast)							156	163	160					2																	152325056		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152325056G>T	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.6816G>T	2.37:g.152325056G>T	ENSP00000243326:p.Lys2272Asn		Somatic				RIF1_ENST00000428287.2_Intron|RIF1_ENST00000453091.2_Intron|RIF1_ENST00000444746.2_Missense_Mutation_p.K2272N|RIF1_ENST00000430328.2_Intron	p.K2272N			WXS	Illumina GAIIx	Phase_I	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	31	7299	+			2272			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.6816G>T	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023129	0.75275	.	.	ENSG00000080345	ENST00000444746;ENST00000243326	T;T	0.14516	2.5;2.5	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.03750	-1.1007	10	0.87932	D	0	-15.1489	19.6454	0.95775	0.0:0.0:1.0:0.0	.	2272	Q5UIP0	RIF1_HUMAN	N	2272	ENSP00000390181:K2272N;ENSP00000243326:K2272N	ENSP00000243326:K2272N	K	+	3	2	RIF1	152033302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.552000	0.60747	2.736000	0.93811	0.591000	0.81541	AAG		0.358	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			7	53	1	0	0.000157383	1	0.000169016	7	53					T	152325056	G	T	152325056	3	4	48	1	0	0	0	0	1	0	0	0	13374	933	33	2	6938	2	RIF1	2	152325056	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4397	152325056	90874317	648	5116										
NEB	4703	broad.mit.edu	37	chr2	152534175	152534175	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctggatgttgcctgtacttCttttcattcagagcatcacc	7	11	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152534175C>A	ENST00000172853.10	-	34	3825	c.3678G>T	c.(3676-3678)aaG>aaT	p.K1226N	NEB_ENST00000397345.3_Missense_Mutation_p.K1226N|NEB_ENST00000427231.2_Missense_Mutation_p.K1226N|NEB_ENST00000604864.1_Missense_Mutation_p.K1226N|NEB_ENST00000603639.1_Missense_Mutation_p.K1226N|NEB_ENST00000409198.1_Missense_Mutation_p.K1226N			P20929	NEBU_HUMAN	nebulin	1226					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)		GCCTGTACTTCTTTTCATTCA	0.458																																						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.(3676-3678)aaG>aaT		nebulin							222	206	211					2																	152534175		1917	4126	6043	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.chr2:152534175C>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.3678G>T	2.37:g.152534175C>A	ENSP00000172853:p.Lys1226Asn		Somatic				NEB_ENST00000603639.1_Missense_Mutation_p.K1226N|NEB_ENST00000604864.1_Missense_Mutation_p.K1226N|NEB_ENST00000409198.1_Missense_Mutation_p.K1226N|NEB_ENST00000172853.10_Missense_Mutation_p.K1226N|NEB_ENST00000427231.2_Missense_Mutation_p.K1226N	p.K1226N	NM_001164508.1	NP_001157980.1	WXS	Illumina GAIIx	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	34	3880	-			1226					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.3678G>T		.	.	.	.	.	.	.	.	.	.	C	17.50	3.405237	0.62288	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.07800	3.17;3.22;3.22;3.16	5.19	5.19	0.71726	.	0.164805	0.51477	D	0.000081	T	0.27278	0.0669	M	0.67625	2.065	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	T	0.00317	-1.1822	10	0.45353	T	0.12	.	18.6883	0.91573	0.0:1.0:0.0:0.0	.	1226	P20929	NEBU_HUMAN	N	1226	ENSP00000386259:K1226N;ENSP00000380505:K1226N;ENSP00000416578:K1226N;ENSP00000172853:K1226N	ENSP00000172853:K1226N	K	-	3	2	NEB	152242421	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.211000	0.32382	2.593000	0.87608	0.655000	0.94253	AAG		0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		49	101	1	0	4.18559e-23	1	5.84444e-23	49	101					A	152534175	C	A	152534175	3	1	48	1	0	0	0	0	1	0	0	0	10311	912	32	2	22604	2	NEB	2	152534175	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	209119	152534175	90665198	649	5117										
NEB	4703	broad.mit.edu	37	chr2	152554096	152554096	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagaacagtatcgagcttgaAtttgggggtctcgcagtaat	12	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152554096A>G	ENST00000172853.10	-	14	1366	c.1219T>C	c.(1219-1221)Ttc>Ctc	p.F407L	NEB_ENST00000397345.3_Missense_Mutation_p.F407L|NEB_ENST00000427231.2_Missense_Mutation_p.F407L|NEB_ENST00000604864.1_Missense_Mutation_p.F407L|NEB_ENST00000603639.1_Missense_Mutation_p.F407L|NEB_ENST00000409198.1_Missense_Mutation_p.F407L			P20929	NEBU_HUMAN	nebulin	407					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)		TCGAGCTTGAATTTGGGGGTC	0.328																																						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.(1219-1221)Ttc>Ctc		nebulin							139	135	136					2																	152554096		1828	4090	5918	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.chr2:152554096A>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.1219T>C	2.37:g.152554096A>G	ENSP00000172853:p.Phe407Leu		Somatic				NEB_ENST00000603639.1_Missense_Mutation_p.F407L|NEB_ENST00000604864.1_Missense_Mutation_p.F407L|NEB_ENST00000409198.1_Missense_Mutation_p.F407L|NEB_ENST00000172853.10_Missense_Mutation_p.F407L|NEB_ENST00000427231.2_Missense_Mutation_p.F407L	p.F407L	NM_001164508.1	NP_001157980.1	WXS	Illumina GAIIx	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	14	1421	-			407					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.1219T>C		.	.	.	.	.	.	.	.	.	.	A	19.41	3.821413	0.71028	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000536533	T;T;T;T	0.05996	3.4;3.36;3.36;3.4	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.11750	0.0286	M	0.74881	2.28	0.80722	D	1	B	0.29571	0.249	B	0.32677	0.15	T	0.11060	-1.0603	10	0.14252	T	0.57	.	16.4608	0.84044	1.0:0.0:0.0:0.0	.	407	P20929	NEBU_HUMAN	L	407;407;407;407;133	ENSP00000386259:F407L;ENSP00000380505:F407L;ENSP00000416578:F407L;ENSP00000172853:F407L	ENSP00000172853:F407L	F	-	1	0	NEB	152262342	1.000000	0.71417	0.954000	0.39281	0.982000	0.71751	9.206000	0.95056	2.288000	0.76882	0.533000	0.62120	TTC		0.328	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		23	32	0	0	0	1	0	23	32					G	152554096	A	G	152554096	3	3	48	1	0	0	0	0	1	0	0	0	10311	101	4	4	25143	4	NEB	2	152554096	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	19921	152554096	90645277	650	5118										
NEB	4703	broad.mit.edu	37	chr2	152574022	152574022	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgctgttcagcgagaccttTtttgtaggcaacctgatgaa	10	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152574022T>G	ENST00000172853.10	-	10	877	c.730A>C	c.(730-732)Aaa>Caa	p.K244Q	NEB_ENST00000397345.3_Missense_Mutation_p.K244Q|NEB_ENST00000427231.2_Missense_Mutation_p.K244Q|NEB_ENST00000604864.1_Missense_Mutation_p.K244Q|NEB_ENST00000603639.1_Missense_Mutation_p.K244Q|NEB_ENST00000409198.1_Missense_Mutation_p.K244Q			P20929	NEBU_HUMAN	nebulin	244					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)		GCGAGACCTTTTTTGTAGGCA	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.(730-732)Aaa>Caa		nebulin							121	107	112					2																	152574022		1863	4100	5963	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.chr2:152574022T>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.730A>C	2.37:g.152574022T>G	ENSP00000172853:p.Lys244Gln		Somatic				NEB_ENST00000603639.1_Missense_Mutation_p.K244Q|NEB_ENST00000604864.1_Missense_Mutation_p.K244Q|NEB_ENST00000409198.1_Missense_Mutation_p.K244Q|NEB_ENST00000172853.10_Missense_Mutation_p.K244Q|NEB_ENST00000427231.2_Missense_Mutation_p.K244Q	p.K244Q	NM_001164508.1	NP_001157980.1	WXS	Illumina GAIIx	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	10	932	-			244					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.730A>C		.	.	.	.	.	.	.	.	.	.	T	19.16	3.774297	0.69992	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.08102	3.13;3.13;3.15;3.13	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.16214	0.0390	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06499	-1.0823	10	0.06494	T	0.89	.	15.0485	0.71846	0.0:0.0:0.0:1.0	.	244	P20929	NEBU_HUMAN	Q	244	ENSP00000386259:K244Q;ENSP00000380505:K244Q;ENSP00000416578:K244Q;ENSP00000172853:K244Q	ENSP00000172853:K244Q	K	-	1	0	NEB	152282268	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.954000	0.76001	2.209000	0.71365	0.533000	0.62120	AAA		0.353	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		6	29	0	0	0	1	0	6	29					G	152574022	T	G	152574022	3	3	48	1	0	0	0	0	1	0	0	0	10311	1850	64	4	25648	4	NEB	2	152574022	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	19926	152574022	90625351	651	5119										
CACNB4	785	broad.mit.edu	37	chr2	152695763	152695763	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatgatctcggctatgctgaGaactggaagacaagcggttc	12	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152695763G>T	ENST00000539935.1	-	14	1500	c.1433C>A	c.(1432-1434)tCt>tAt	p.S478Y	CACNB4_ENST00000534999.1_Missense_Mutation_p.S444Y|CACNB4_ENST00000427385.1_Missense_Mutation_p.S460Y|CACNB4_ENST00000360283.6_Missense_Mutation_p.S445Y|CACNB4_ENST00000397327.2_Missense_Mutation_p.S431Y|CACNB4_ENST00000201943.5_Missense_Mutation_p.S416Y	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	478					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)	GCTATGCTGAGAACTGGAAGA	0.463																																						ENST00000360283.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(1333-1335)tCt>tAt		calcium channel, voltage-dependent, beta 4 subunit	Verapamil(DB00661)						117	116	116					2																	152695763		1971	4172	6143	SO:0001583	missense	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.chr2:152695763G>T	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.1433C>A	2.37:g.152695763G>T	ENSP00000438949:p.Ser478Tyr		Somatic				CACNB4_ENST00000427385.1_Missense_Mutation_p.S460Y|CACNB4_ENST00000539935.1_Missense_Mutation_p.S478Y|CACNB4_ENST00000397327.2_Missense_Mutation_p.S431Y|CACNB4_ENST00000534999.1_Missense_Mutation_p.S444Y|CACNB4_ENST00000201943.5_Missense_Mutation_p.S416Y	p.S445Y			WXS	Illumina GAIIx	Phase_I	O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	13	1591	-			478					A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	ENST00000539935.1	37	c.1334C>A	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866160	0.71949	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	T;T;T;T;T;T;D	0.81996	-0.72;-0.72;-0.72;-0.71;-0.71;-0.72;-1.56	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.90140	0.6919	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.71674	0.99;0.996;0.996;0.998	D;D;D;D	0.79108	0.962;0.982;0.982;0.992	D	0.90771	0.4672	10	0.66056	D	0.02	-9.0424	18.8721	0.92319	0.0:0.0:1.0:0.0	.	416;478;460;444	A7BJ74;O00305;B4DG40;O00305-2	.;CACB4_HUMAN;.;.	Y	478;445;373;473;444;431;460;416;479	ENSP00000438949:S478Y;ENSP00000353425:S445Y;ENSP00000390161:S473Y;ENSP00000443893:S444Y;ENSP00000380490:S431Y;ENSP00000410978:S460Y;ENSP00000201943:S416Y	ENSP00000201943:S416Y	S	-	2	0	CACNB4	152404009	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.382000	0.97209	2.457000	0.83068	0.460000	0.39030	TCT		0.463	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		10	23	1	0	2.74318e-10	1	3.35981e-10	10	23					T	152695763	G	T	152695763	3	4	48	1	0	0	0	0	1	0	0	0	2557	942	33	2	133	2	CACNB4	2	152695763	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	121741	152695763	90503610	652	5120										
CACNB4	785	broad.mit.edu	37	chr2	152739811	152739811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgctgttctctctcctgtCgaattgcttcccggtcctct	7	15	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152739811C>T	ENST00000539935.1	-	3	288	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	CACNB4_ENST00000534999.1_Missense_Mutation_p.R40Q|CACNB4_ENST00000427385.1_Missense_Mutation_p.R56Q|CACNB4_ENST00000475848.1_5'UTR|CACNB4_ENST00000360283.6_Missense_Mutation_p.R40Q|CACNB4_ENST00000397327.2_Missense_Mutation_p.R27Q|CACNB4_ENST00000201943.5_Missense_Mutation_p.R74Q	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	74					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)	TCTCTCCTGTCGAATTGCTTC	0.498																																						ENST00000360283.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(118-120)cGa>cAa		calcium channel, voltage-dependent, beta 4 subunit	Verapamil(DB00661)						157	163	161					2																	152739811		2129	4240	6369	SO:0001583	missense	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.chr2:152739811C>T	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"Calcium channel subunits"	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.221G>A	2.37:g.152739811C>T	ENSP00000438949:p.Arg74Gln		Somatic				CACNB4_ENST00000427385.1_Missense_Mutation_p.R56Q|CACNB4_ENST00000475848.1_5'UTR|CACNB4_ENST00000539935.1_Missense_Mutation_p.R74Q|CACNB4_ENST00000397327.2_Missense_Mutation_p.R27Q|CACNB4_ENST00000534999.1_Missense_Mutation_p.R40Q|CACNB4_ENST00000201943.5_Missense_Mutation_p.R74Q	p.R40Q			WXS	Illumina GAIIx	Phase_I	O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	2	376	-			74					A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	ENST00000539935.1	37	c.119G>A	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226971	0.95173	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254;ENST00000434468	D;D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	6.17	6.17	0.99709	Src homology-3 domain (1);	0.215450	0.47852	D	0.000216	D	0.90508	0.7026	M	0.79475	2.455	0.80722	D	1	P;D;P;P;P	0.60575	0.933;0.988;0.887;0.887;0.863	B;P;P;B;B	0.58266	0.298;0.836;0.516;0.393;0.272	D	0.90458	0.4444	10	0.87932	D	0	-13.4447	20.4745	0.99168	0.0:1.0:0.0:0.0	.	74;40;74;56;40	A7BJ74;E7DBM8;O00305;B4DG40;O00305-2	.;.;CACB4_HUMAN;.;.	Q	74;40;31;69;40;27;56;74;74;27	ENSP00000438949:R74Q;ENSP00000353425:R40Q;ENSP00000390161:R69Q;ENSP00000443893:R40Q;ENSP00000380490:R27Q;ENSP00000410978:R56Q;ENSP00000201943:R74Q;ENSP00000399242:R27Q	ENSP00000201943:R74Q	R	-	2	0	CACNB4	152448057	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.895000	0.63214	2.941000	0.99782	0.655000	0.94253	CGA		0.498	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		28	74	0	0	0	1	0	28	74					T	152739811	C	T	152739811	3	4	48	1	0	0	0	0	1	0	0	0	2557	884	31	1	1389	1	CACNB4	2	152739811	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	44048	152739811	90459562	653	5121										
FMNL2	114793	broad.mit.edu	37	chr2	153497338	153497338	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatcaaagaggcagcagcaaGagttaattgcagaattaaga	10	5	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:153497338G>A	ENST00000475377.2	+	12	1404	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	FMNL2_ENST00000288670.9_Missense_Mutation_p.E1027K			Q96PY5	FMNL2_HUMAN	formin-like 2	1027	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GCAGCAGCAAGAGTTAATTGC	0.378																																						ENST00000288670.9																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(3079-3081)Gag>Aag		formin-like 2							83	79	80					2																	153497338		1866	4105	5971	SO:0001583	missense	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153497338G>A	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.1204G>A	2.37:g.153497338G>A	ENSP00000418959:p.Glu402Lys		Somatic				FMNL2_ENST00000475377.2_Missense_Mutation_p.E402K	p.E1027K	NM_052905.3	NP_443137.2	WXS	Illumina GAIIx	Phase_I	Q96PY5	FMNL2_HUMAN			25	3446	+			1027					B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000475377.2	37	c.3079G>A		.	.	.	.	.	.	.	.	.	.	G	23.1	4.368872	0.82463	.	.	ENSG00000157827	ENST00000288670;ENST00000421344;ENST00000475377	T;T	0.76709	-1.04;2.26	5.33	5.33	0.75918	Actin-binding FH2/DRF autoregulatory (1);	.	.	.	.	T	0.78400	0.4277	M	0.75447	2.3	0.80722	D	1	P;B;B	0.34522	0.455;0.137;0.198	B;B;B	0.36845	0.052;0.067;0.234	T	0.75402	-0.3330	9	0.13108	T	0.6	.	19.0284	0.92944	0.0:0.0:1.0:0.0	.	1027;508;1027	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	K	1027;508;402	ENSP00000288670:E1027K;ENSP00000418959:E402K	ENSP00000288670:E1027K	E	+	1	0	FMNL2	153205584	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.806000	0.99153	2.499000	0.84300	0.563000	0.77884	GAG		0.378	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333583.3	NM_052905		8	14	0	0	0	1	0	8	14					A	153497338	G	A	153497338	3	1	48	1	0	0	0	0	1	0	0	0	5960	943	33	3	3177	3	FMNL2	2	153497338	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	757527	153497338	89702035	654	5122										
GALNT13	114805	broad.mit.edu	37	chr2	155306999	155306999	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agacaaaatggtgcctacaaTgcaggactgtagtggaagca	12	7	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:155306999T>G	ENST00000392825.3	+	13	2174	c.1607T>G	c.(1606-1608)aTg>aGg	p.M536R	AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	536	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)			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						GTGCCTACAATGCAGGACTGT	0.448																																						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.(1606-1608)aTg>aGg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							111	93	99					2																	155306999		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155306999T>G	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.1607T>G	2.37:g.155306999T>G	ENSP00000376570:p.Met536Arg		Somatic				AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_3'UTR	p.M536R	NM_052917.2	NP_443149.2	WXS	Illumina GAIIx	Phase_I	Q8IUC8	GLT13_HUMAN			13	2174	+			536			Ricin B-type lectin.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.1607T>G	CCDS2199.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.54|19.54	3.846838|3.846838	0.71603|0.71603	.|.	.|.	ENSG00000144278|ENSG00000144278	ENST00000392825|ENST00000450838	T|.	0.27720|.	1.65|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.124327|.	0.85682|.	D|.	0.000000|.	T|T	0.77718|0.77718	0.4172|0.4172	M|M	0.83312|0.83312	2.635|2.635	0.80722|0.80722	D|D	1|1	B|.	0.30634|.	0.288|.	B|.	0.40038|.	0.317|.	T|T	0.79460|0.79460	-0.1794|-0.1794	10|5	0.87932|.	D|.	0|.	.|.	14.5927|14.5927	0.68378|0.68378	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	536|.	Q8IUC8|.	GLT13_HUMAN|.	R|K	536|121	ENSP00000376570:M536R|.	ENSP00000376570:M536R|.	M|N	+|+	2|3	0|2	GALNT13|GALNT13	155015245|155015245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.175000|7.175000	0.77632|0.77632	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.448	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		11	30	0	0	0	1	0	11	30					G	155306999	T	G	155306999	3	3	48	1	0	0	0	0	1	0	0	0	6219	1464	51	4	1649	4	GALNT13	2	155306999	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1809661	155306999	87892374	655	5123										
GALNT5	11227	broad.mit.edu	37	chr2	158142583	158142583	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtttccaaaagttcggattCttcgcctcaaagagagacat	8	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:158142583C>A	ENST00000259056.4	+	3	2163	c.1678C>A	c.(1678-1680)Ctt>Att	p.L560I		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	560	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|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(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AGTTCGGATTCTTCGCCTCAA	0.358																																						ENST00000259056.4																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(1678-1680)Ctt>Att		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)							71	76	74					2																	158142583		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158142583C>A	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1678C>A	2.37:g.158142583C>A	ENSP00000259056:p.Leu560Ile		Somatic					p.L560I	NM_014568.1	NP_055383.1	WXS	Illumina GAIIx	Phase_I	Q7Z7M9	GALT5_HUMAN			3	2163	+			560			Catalytic subdomain A.		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.1678C>A	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831183	0.50845	.	.	ENSG00000136542	ENST00000259056	T	0.55760	0.5	5.87	5.87	0.94306	Glycosyl transferase, family 2 (1);	0.058877	0.64402	D	0.000002	T	0.36166	0.0957	N	0.04705	-0.18	0.45366	D	0.998359	P	0.40282	0.711	B	0.39119	0.291	T	0.22626	-1.0211	10	0.27082	T	0.32	.	19.8132	0.96556	0.0:1.0:0.0:0.0	.	560	Q7Z7M9	GALT5_HUMAN	I	560	ENSP00000259056:L560I	ENSP00000259056:L560I	L	+	1	0	GALNT5	157850829	0.997000	0.39634	1.000000	0.80357	0.930000	0.56654	1.521000	0.35910	2.785000	0.95823	0.655000	0.94253	CTT		0.358	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		14	32	1	0	1.52009e-12	1	1.92208e-12	14	32					A	158142583	C	A	158142583	3	1	48	1	0	0	0	0	1	0	0	0	6224	913	32	2	1688	2	GALNT5	2	158142583	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2835584	158142583	85056790	656	5124										
WDSUB1	151525	broad.mit.edu	37	chr2	160112755	160112755	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttgtaagattcaacagttCttttccatcaatgttattca	4	7	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:160112755C>A	ENST00000409990.3	-	9	1340	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*	WDSUB1_ENST00000392796.3_Nonsense_Mutation_p.E362*|WDSUB1_ENST00000409124.1_Nonsense_Mutation_p.E362*|WDSUB1_ENST00000358147.4_Nonsense_Mutation_p.E270*|WDSUB1_ENST00000359774.4_Nonsense_Mutation_p.E362*	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	362	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.						ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TTCAACAGTTCTTTTCCATCA	0.338																																						ENST00000409990.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						c.(1084-1086)Gaa>Taa		WD repeat, sterile alpha motif and U-box domain containing 1							98	97	98					2																	160112755		2203	4300	6503	SO:0001587	stop_gained	151525					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr2:160112755C>A	AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"WD repeat domain containing", "Sterile alpha motif (SAM) domain containing", "U-box domain containing"	26697	protein-coding gene	gene with protein product			"WD repeat and SAM domain containing 1", "WD repeat, SAM and U-box domain containing 1"	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.1084G>T	2.37:g.160112755C>A	ENSP00000387078:p.Glu362*		Somatic				WDSUB1_ENST00000358147.4_Nonsense_Mutation_p.E270*|WDSUB1_ENST00000409124.1_Nonsense_Mutation_p.E362*|WDSUB1_ENST00000392796.3_Nonsense_Mutation_p.E362*|WDSUB1_ENST00000359774.4_Nonsense_Mutation_p.E362*	p.E362*	NM_001128213.1	NP_001121685.1	WXS	Illumina GAIIx	Phase_I	Q8N9V3	WSDU1_HUMAN			9	1340	-			362			SAM.		Q53TI9|Q8N6N8	Nonsense_Mutation	SNP	ENST00000409990.3	37	c.1084G>T	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	C	38	6.982413	0.97979	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	19.9615	0.97252	0.0:1.0:0.0:0.0	.	.	.	.	X	362;270;362;362;362	.	ENSP00000350866:E270X	E	-	1	0	WDSUB1	159821001	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.354000	0.79424	2.713000	0.92767	0.655000	0.94253	GAA		0.338	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528		10	26	1	0	1.33987e-11	1	1.67053e-11	10	26					A	160112755	C	A	160112755	4	1	48	1	0	0	0	0	0	1	0	0	17356	922	32	2	358	2	WDSUB1	2	160112755	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1970172	160112755	83086618	657	5125										
BAZ2B	29994	broad.mit.edu	37	chr2	160289317	160289317	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcatcatcttcctcatcttcTtcttcatcatcttcctcttc	0	16	11	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:160289317T>G	ENST00000392783.2	-	9	2346	c.1851A>C	c.(1849-1851)gaA>gaC	p.E617D	BAZ2B_ENST00000343439.5_Missense_Mutation_p.E615D|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E615D|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E617D	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	617	Asp/Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			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						cctcatcttcttcttcatcat	0.333																																						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.(1849-1851)gaA>gaC		bromodomain adjacent to zinc finger domain, 2B							75	74	74					2																	160289317		1993	4196	6189	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160289317T>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.1851A>C	2.37:g.160289317T>G	ENSP00000376534:p.Glu617Asp		Somatic				BAZ2B_ENST00000392782.1_Missense_Mutation_p.E615D|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E617D|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E615D	p.E617D	NM_013450.2	NP_038478.2	WXS	Illumina GAIIx	Phase_I	Q9UIF8	BAZ2B_HUMAN			9	2346	-			617			Asp/Glu-rich (acidic).		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.1851A>C	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.733|9.733	1.162671|1.162671	0.21538|0.21538	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439|ENST00000546335	T;T;T;T|.	0.55930|.	3.77;0.49;3.77;3.77|.	5.81|5.81	3.4|3.4	0.38934|0.38934	.|.	0.657383|.	0.11698|.	U|.	0.538246|.	T|T	0.22975|0.22975	0.0555|0.0555	N|N	0.17082|0.17082	0.46|0.46	0.24648|0.24648	N|N	0.993537|0.993537	B;B;B;B;B|.	0.11235|.	0.004;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.13407|.	0.009;0.001;0.002;0.001;0.001|.	T|T	0.20672|0.20672	-1.0268|-1.0268	10|6	0.42905|0.59425	T|D	0.14|0.04	-15.0902|-15.0902	3.9189|3.9189	0.09234|0.09234	0.1791:0.2301:0.0:0.5908|0.1791:0.2301:0.0:0.5908	.|.	617;421;615;615;617|.	Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8|.	.;.;.;.;BAZ2B_HUMAN|.	D|T	615;617;617;615|517	ENSP00000376533:E615D;ENSP00000376534:E617D;ENSP00000348087:E617D;ENSP00000339670:E615D|.	ENSP00000339670:E615D|ENSP00000437619:K517T	E|K	-|-	3|2	2|0	BAZ2B|BAZ2B	159997563|159997563	0.221000|0.221000	0.23642|0.23642	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	-0.521000|-0.521000	0.06245|0.06245	0.450000|0.450000	0.26774|0.26774	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.333	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			9	18	0	0	0	1	0	9	18					G	160289317	T	G	160289317	3	3	48	1	0	0	0	0	1	0	0	0	1332	1606	56	4	4771	4	BAZ2B	2	160289317	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	176562	160289317	82910056	658	5126										
CD302	9936	broad.mit.edu	37	chr2	160637474	160637474	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtatccagtataaaagcatTttcttcttcattatgtatgc	5	7	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:160637474T>G	ENST00000259053.4	-	3	257	c.214A>C	c.(214-216)Aat>Cat	p.N72H	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.N1657H|LY75_ENST00000554112.1_Missense_Mutation_p.N1713H|CD302_ENST00000429078.2_Missense_Mutation_p.N72H|CD302_ENST00000480212.1_5'UTR|LY75_ENST00000553424.1_Missense_Mutation_p.N1657H|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.N1713H	NM_001198764.1|NM_014880.4	NP_001185693.1|NP_055695.2	Q8IX05	CD302_HUMAN	CD302 molecule	72	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				phagocytosis (GO:0006909)	cell cortex (GO:0005938)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						ATAAAAGCATTTTCTTCTTCA	0.343																																						ENST00000504764.1																			0											c.(5137-5139)Aat>Cat									124	115	118					2																	160637474		2203	4300	6503	SO:0001583	missense	0				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160637474T>G	AY314007	CCDS33308.1, CCDS56139.1, CCDS74595.1	2q24.2	2011-08-30	2006-03-28		ENSG00000241399	ENSG00000241399		"CD molecules", "C-type lectin domain containing"	30843	protein-coding gene	gene with protein product	"C-type lectin domain family 13, member A"	612246	"CD302 antigen"			7584026, 7584028	Standard	NM_014880		Approved	DCL-1, KIAA0022, BIMLEC, CLEC13A		Q8IX05	OTTHUMG00000154080	ENST00000259053.4:c.214A>C	2.37:g.160637474T>G	ENSP00000259053:p.Asn72His		Somatic				CD302_ENST00000480212.1_5'UTR|CD302_ENST00000259053.4_Missense_Mutation_p.N72H|CD302_ENST00000429078.2_Missense_Mutation_p.N72H|LY75_ENST00000554112.1_Missense_Mutation_p.N1713H|LY75_ENST00000553424.1_Missense_Mutation_p.N1657H|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.N1657H	p.N1713H	NM_001198759.1	NP_001185688.1	WXS	Illumina GAIIx	Phase_I	O60449	LY75_HUMAN			36	5164	-			1581					A8K5G4|B4E2T9|Q15009	Missense_Mutation	SNP	ENST00000259053.4	37	c.5137A>C	CCDS33308.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.113358	0.77210	.	.	ENSG00000241399;ENSG00000241399;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000259053;ENST00000429078;ENST00000554112;ENST00000553424;ENST00000504764;ENST00000505052	T;T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95;2.95	5.33	5.33	0.75918	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	M	0.81802	2.56	0.29136	N	0.879354	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.989;0.977;0.977;1.0	T	0.30592	-0.9973	10	0.87932	D	0	-28.2491	14.605	0.68472	0.0:0.0:0.0:1.0	.	72;1657;1713;72	B4E2T9;O60449-3;O60449-2;Q8IX05	.;.;.;CD302_HUMAN	H	72;72;1713;1657;1713;1657	ENSP00000259053:N72H;ENSP00000394301:N72H;ENSP00000451511:N1713H;ENSP00000451446:N1657H;ENSP00000423463:N1713H;ENSP00000421035:N1657H	ENSP00000259053:N72H	N	-	1	0	LY75;CD302;LY75-CD302	160345720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.734000	0.62043	2.145000	0.66743	0.533000	0.62120	AAT		0.343	CD302-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333760.1	NM_014880		17	25	0	0	0	1	0	17	25					G	160637474	T	G	160637474	3	3	48	1	0	0	0	0	1	0	0	0	3005	1841	64	4	500	4	CD302	2	160637474	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	348157	160637474	82561899	659	5127										
FAP	2191	broad.mit.edu	37	chr2	163076364	163076364	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaaaatttaaacacttactAatttactcccaacaggcgac	3	11	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:163076364A>G	ENST00000188790.4	-	7	692	c.485T>C	c.(484-486)tTa>tCa	p.L162S	FAP_ENST00000443424.1_Splice_Site_p.L137S	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.L162*(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AACACTTACTAATTTACTCCC	0.328																																						ENST00000188790.4																			1	Substitution - Nonsense(1)	p.L162*(1)	skin(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.e7+1		fibroblast activation protein, alpha							45	47	47					2																	163076364		2199	4295	6494	SO:0001630	splice_region_variant	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163076364A>G	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.486+1T>C	2.37:g.163076364A>G			Somatic				FAP_ENST00000443424.1_Splice_Site_p.L137_splice	p.L162_splice	NM_004460.2	NP_004451.2	WXS	Illumina GAIIx	Phase_I	Q12884	SEPR_HUMAN			7	692	-			162						Splice_Site	SNP	ENST00000188790.4	37	c.486_splice	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.937662	0.73557	.	.	ENSG00000078098	ENST00000188790;ENST00000443424;ENST00000447386	D;T;T	0.97688	-4.49;0.98;1.23	6.06	6.06	0.98353	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.305337	0.31210	N	0.008046	D	0.98874	0.9619	M	0.90483	3.12	0.51482	D	0.999921	P;D;D	0.65815	0.875;0.995;0.995	P;D;D	0.67900	0.814;0.954;0.954	D	0.99647	1.0990	10	0.87932	D	0	-7.9917	16.6245	0.84952	1.0:0.0:0.0:0.0	.	137;162;162	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	S	162;137;141	ENSP00000188790:L162S;ENSP00000411391:L137S;ENSP00000400137:L141S	ENSP00000188790:L162S	L	-	2	0	FAP	162784610	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.881000	0.63114	2.323000	0.78572	0.528000	0.53228	TTA		0.328	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		Missense_Mutation	8	20	0	0	0	1	0	8	20					G	163076364	A	G	163076364	5	3	48	1	0	0	0	0	0	0	1	0	5681	376	13	4	1877	4	FAP	2	163076364	Splice_Site	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2438890	163076364	80123009	660	5128										
KCNH7	90134	broad.mit.edu	37	chr2	163374665	163374665	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaatttgaacccaaaaaatTtccctataaatggagacagg	8	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:163374665T>G	ENST00000332142.5	-	4	566	c.467A>C	c.(466-468)aAa>aCa	p.K156T	KCNH7_ENST00000328032.4_Missense_Mutation_p.K156T|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	156					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCCAAAAAATTTCCCTATAAA	0.368																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(466-468)aAa>aCa		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						36	39	38					2																	163374665		2203	4296	6499	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163374665T>G	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.467A>C	2.37:g.163374665T>G	ENSP00000331727:p.Lys156Thr		Somatic				KCNH7_ENST00000328032.4_Missense_Mutation_p.K156T|KCNH7_ENST00000477019.1_5'UTR	p.K156T	NM_033272.3	NP_150375.2	WXS	Illumina GAIIx	Phase_I	Q9NS40	KCNH7_HUMAN			4	566	-			156					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.467A>C	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	T	13.85	2.361137	0.41801	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99671	-5.25;-6.35	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.97917	0.9315	L	0.29908	0.895	0.42291	D	0.992138	B;B	0.34015	0.435;0.027	B;B	0.29785	0.107;0.016	D	0.98285	1.0510	10	0.62326	D	0.03	.	11.7568	0.51880	0.0:0.0705:0.0:0.9295	.	156;156	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	T	156	ENSP00000331727:K156T;ENSP00000333781:K156T	ENSP00000333781:K156T	K	-	2	0	KCNH7	163082911	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	2.657000	0.46724	2.161000	0.67846	0.533000	0.62120	AAA		0.368	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		15	26	0	0	0	1	0	15	26					G	163374665	T	G	163374665	3	3	48	1	0	0	0	0	1	0	0	0	8046	1841	64	4	3241	4	KCNH7	2	163374665	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	298301	163374665	79824708	661	5129										
COBLL1	22837	broad.mit.edu	37	chr2	165551180	165551180	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgctccggagaaggcagcaTatccctttctgcctctttat	8	13	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:165551180T>C	ENST00000392717.2	-	13	2954	c.2950A>G	c.(2950-2952)Atg>Gtg	p.M984V	COBLL1_ENST00000342193.4_Missense_Mutation_p.M946V|COBLL1_ENST00000409184.3_Missense_Mutation_p.M946V|COBLL1_ENST00000375458.2_Missense_Mutation_p.M908V|COBLL1_ENST00000194871.6_Missense_Mutation_p.M1013V			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	984						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						GAAGGCAGCATATCCCTTTCT	0.468																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2722-2724)Atg>Gtg		cordon-bleu WH2 repeat protein-like 1							51	52	52					2																	165551180		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551180T>C	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.2950A>G	2.37:g.165551180T>C	ENSP00000376478:p.Met984Val		Somatic				COBLL1_ENST00000409184.3_Missense_Mutation_p.M946V|COBLL1_ENST00000342193.4_Missense_Mutation_p.M946V|COBLL1_ENST00000194871.6_Missense_Mutation_p.M1013V|COBLL1_ENST00000392717.2_Missense_Mutation_p.M984V	p.M908V	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	WXS	Illumina GAIIx	Phase_I	Q53SF7	COBL1_HUMAN			11	2943	-			984					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.2722A>G		.	.	.	.	.	.	.	.	.	.	T	0.001	-3.143623	0.00029	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.61	-11.2	0.00127	.	2.870190	0.00888	N	0.002213	T	0.14743	0.0356	N	0.12182	0.205	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	0.16247	-1.0409	9	0.28530	T	0.3	14.838	2.32	0.04208	0.1955:0.1882:0.3938:0.2225	.	984;1013;946	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	V	908;946;946;984;1013	.	ENSP00000194871:M1013V	M	-	1	0	COBLL1	165259426	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.381000	0.01065	-3.437000	0.00163	0.533000	0.62120	ATG		0.468	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		13	29	0	0	0	1	0	13	29					C	165551180	T	C	165551180	3	2	48	1	0	0	0	0	1	0	0	0	3656	1406	49	4	676	4	COBLL1	2	165551180	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2176515	165551180	77648193	662	5130										
COBLL1	22837	broad.mit.edu	37	chr2	165551579	165551579	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctgtttggatggcagtttCtttcacattctcatgagtgt	9	7	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:165551579C>A	ENST00000392717.2	-	13	2555	c.2551G>T	c.(2551-2553)Gaa>Taa	p.E851*	COBLL1_ENST00000342193.4_Nonsense_Mutation_p.E813*|COBLL1_ENST00000409184.3_Nonsense_Mutation_p.E813*|COBLL1_ENST00000375458.2_Nonsense_Mutation_p.E775*|COBLL1_ENST00000194871.6_Nonsense_Mutation_p.E880*			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	851						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						ATGGCAGTTTCTTTCACATTC	0.418																																						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.(2323-2325)Gaa>Taa		cordon-bleu WH2 repeat protein-like 1							147	145	146					2																	165551579		2203	4300	6503	SO:0001587	stop_gained	22837							g.chr2:165551579C>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.2551G>T	2.37:g.165551579C>A	ENSP00000376478:p.Glu851*		Somatic				COBLL1_ENST00000409184.3_Nonsense_Mutation_p.E813*|COBLL1_ENST00000342193.4_Nonsense_Mutation_p.E813*|COBLL1_ENST00000194871.6_Nonsense_Mutation_p.E880*|COBLL1_ENST00000392717.2_Nonsense_Mutation_p.E851*	p.E775*	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	WXS	Illumina GAIIx	Phase_I	Q53SF7	COBL1_HUMAN			11	2544	-			851					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Nonsense_Mutation	SNP	ENST00000392717.2	37	c.2323G>T		.	.	.	.	.	.	.	.	.	.	C	42	9.712095	0.99245	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-16.0229	20.5948	0.99439	0.0:1.0:0.0:0.0	.	.	.	.	X	775;813;813;851;880	.	ENSP00000194871:E880X	E	-	1	0	COBLL1	165259825	0.992000	0.36948	0.992000	0.48379	0.989000	0.77384	3.337000	0.52120	2.873000	0.98535	0.563000	0.77884	GAA		0.418	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		36	58	1	0	2.20474e-14	1	2.87106e-14	36	58					A	165551579	C	A	165551579	4	1	48	1	0	0	0	0	0	1	0	0	3656	922	32	2	1075	2	COBLL1	2	165551579	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	399	165551579	77647794	663	5131										
SCN3A	6328	broad.mit.edu	37	chr2	166020945	166020945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagccagttccatggatcacGaagaaacgtaaaatcttcta	7	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166020945G>A	ENST00000360093.3	-	6	1050	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	SCN3A_ENST00000283254.7_Missense_Mutation_p.R187C|SCN3A_ENST00000409101.3_Missense_Mutation_p.R187C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	187					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATGGATCACGAAGAAACGTA	0.373																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(559-561)Cgt>Tgt		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						77	79	78					2																	166020945		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166020945G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.559C>T	2.37:g.166020945G>A	ENSP00000353206:p.Arg187Cys		Somatic				SCN3A_ENST00000409101.3_Missense_Mutation_p.R187C|SCN3A_ENST00000283254.7_Missense_Mutation_p.R187C	p.R187C	NM_001081677.1	NP_001075146.1	WXS	Illumina GAIIx	Phase_I	Q9NY46	SCN3A_HUMAN			6	1050	-			187					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.559C>T		.	.	.	.	.	.	.	.	.	.	G	18.74	3.688572	0.68271	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431;ENST00000453007	D;D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.25;-5.25	5.89	4.97	0.65823	Ion transport (1);	0.000000	0.56097	D	0.000027	D	0.99438	0.9801	H	0.97051	3.93	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;P	0.91635	0.91;0.998;0.999;0.999;0.855	D	0.98266	1.0501	10	0.87932	D	0	.	15.9281	0.79635	0.0:0.0:0.8643:0.1357	.	187;187;187;187;187	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	C	187	ENSP00000353206:R187C;ENSP00000283254:R187C;ENSP00000386726:R187C;ENSP00000403348:R187C;ENSP00000391569:R187C	ENSP00000283254:R187C	R	-	1	0	SCN3A	165729191	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.663000	0.61532	2.810000	0.96702	0.586000	0.80456	CGT		0.373	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		12	33	0	0	0	1	0	12	33					A	166020945	G	A	166020945	3	1	48	1	0	0	0	0	1	0	0	0	13933	1058	37	1	5631	1	SCN3A	2	166020945	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	469366	166020945	77178428	664	5132										
SCN2A	6326	broad.mit.edu	37	chr2	166165696	166165696	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatgtaacagaatttgtaaaCctaggcaatgtttcagctct	7	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166165696C>T	ENST00000375437.2	+	6	895				SCN2A_ENST00000283256.6_Intron|SCN2A_ENST00000357398.3_Silent_p.N209N|SCN2A_ENST00000375427.2_Silent_p.N209N	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit						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)	AATTTGTAAACCTAGGCAATG	0.348																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(625-627)aaC>aaT		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						70	70	70					2																	166165696		2202	4299	6501	SO:0001627	intron_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166165696C>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.606-166C>T	2.37:g.166165696C>T			Somatic				SCN2A_ENST00000375437.2_Intron|SCN2A_ENST00000283256.6_Intron|SCN2A_ENST00000375427.2_Silent_p.N209N	p.N209N			WXS	Illumina GAIIx	Phase_I	Q99250	SCN2A_HUMAN			6	917	+			209					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.627C>T	CCDS33314.1																																																																																				0.348	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		5	21	0	0	0	1	0	5	21					T	166165696	C	T	166165696	1	4	48	0	1	0	0	0	0	0	0	0	13931	506	18	3		3	SCN2A	2	166165696	Intron	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	144751	166165696	77033677	665	5133										
SCN1A	6323	broad.mit.edu	37	chr2	166848303	166848303	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgcagctgcaaactgagataAtttttcaaattccatgaact	6	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166848303A>C	ENST00000303395.4	-	26	5481	c.5482T>G	c.(5482-5484)Tta>Gta	p.L1828V	SCN1A_ENST00000409050.1_Missense_Mutation_p.L1800V|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1817V|SCN1A_ENST00000423058.2_Missense_Mutation_p.L1828V			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1828					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)	AACTGAGATAATTTTTCAAAT	0.468																																						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.(5482-5484)Tta>Gta		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						125	126	125					2																	166848303		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848303A>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.5482T>G	2.37:g.166848303A>C	ENSP00000303540:p.Leu1828Val		Somatic				AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.L1800V|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1817V|SCN1A_ENST00000303395.4_Missense_Mutation_p.L1828V	p.L1828V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			26	5499	-			1828					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5482T>G	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260849	0.59431	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97811	-4.55;-4.55;-4.51;-4.49	5.79	1.63	0.23807	.	0.000000	0.48286	D	0.000195	D	0.98333	0.9447	M	0.84585	2.705	0.42575	D	0.993199	D	0.65815	0.995	D	0.80764	0.994	D	0.97857	1.0278	10	0.87932	D	0	.	8.8234	0.35041	0.5336:0.0:0.4664:0.0	.	1817	P35498-2	.	V	1828;1828;1817;1800	ENSP00000407030:L1828V;ENSP00000303540:L1828V;ENSP00000364554:L1817V;ENSP00000386312:L1800V	ENSP00000303540:L1828V	L	-	1	2	SCN1A	166556549	0.994000	0.37717	0.852000	0.33557	0.942000	0.58702	1.271000	0.33098	0.243000	0.21327	-0.417000	0.06048	TTA		0.468	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		48	78	0	0	0	1	0	48	78					C	166848303	A	C	166848303	3	2	48	1	0	0	0	0	1	0	0	0	13929	98	4	4	551	4	SCN1A	2	166848303	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	682607	166848303	76351070	666	5134										
SCN1A	6323	broad.mit.edu	37	chr2	166866290	166866290	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagctcttagtgtcctgagaGatttgatggctccaagttct	11	8	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166866290G>T	ENST00000303395.4	-	20	3940	c.3941C>A	c.(3940-3942)tCt>tAt	p.S1314Y	SCN1A_ENST00000409050.1_Missense_Mutation_p.S1286Y|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.S1303Y|SCN1A_ENST00000423058.2_Missense_Mutation_p.S1314Y			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1314					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)	TGTCCTGAGAGATTTGATGGC	0.383																																						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.(3940-3942)tCt>tAt		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						91	90	90					2																	166866290		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166866290G>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.3941C>A	2.37:g.166866290G>T	ENSP00000303540:p.Ser1314Tyr		Somatic				AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.S1286Y|SCN1A_ENST00000375405.3_Missense_Mutation_p.S1303Y|SCN1A_ENST00000303395.4_Missense_Mutation_p.S1314Y	p.S1314Y	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			20	3958	-			1314					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.3941C>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788969	0.90367	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.46	5.46	0.80206	Ion transport (1);	0.187464	0.38548	N	0.001660	D	0.99336	0.9767	H	0.95679	3.705	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.87578	0.93;0.998;0.998	D	0.98779	1.0731	10	0.87932	D	0	.	19.3188	0.94229	0.0:0.0:1.0:0.0	.	1303;1286;1314	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	Y	1314;1314;1303;1286	ENSP00000407030:S1314Y;ENSP00000303540:S1314Y;ENSP00000364554:S1303Y;ENSP00000386312:S1286Y	ENSP00000303540:S1314Y	S	-	2	0	SCN1A	166574536	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.612000	0.98347	2.569000	0.86673	0.650000	0.86243	TCT		0.383	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		16	25	1	0	1.37285e-15	1	1.81125e-15	16	25					T	166866290	G	T	166866290	3	4	48	1	0	0	0	0	1	0	0	0	13929	942	33	2	2116	2	SCN1A	2	166866290	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	17987	166866290	76333083	667	5135										
SCN1A	6323	broad.mit.edu	37	chr2	166897798	166897798	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcattggatagtgctccatGgccatgaaaagagtatttaa	10	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166897798G>T	ENST00000303395.4	-	13	2357	c.2358C>A	c.(2356-2358)gcC>gcA	p.A786A	SCN1A_ENST00000409050.1_Silent_p.A758A|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.A775A|SCN1A_ENST00000423058.2_Silent_p.A786A|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	786					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)	AGTGCTCCATGGCCATGAAAA	0.383																																						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.(2356-2358)gcC>gcA		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						92	83	86					2																	166897798		2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166897798G>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.2358C>A	2.37:g.166897798G>T			Somatic				AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Silent_p.A758A|SCN1A_ENST00000375405.3_Silent_p.A775A|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Silent_p.A786A	p.A786A	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			13	2375	-			786					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.2358C>A	CCDS54413.1																																																																																				0.383	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		19	42	1	0	1.33834e-09	1	1.61283e-09	19	42					T	166897798	G	T	166897798	2	4	48	1	0	0	0	0	0	0	0	1	13929	1335	47	5		5	SCN1A	2	166897798	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	31508	166897798	76301575	668	5136										
SCN1A	6323	broad.mit.edu	37	chr2	166911148	166911148	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttcaaaaaaggcacttacGcaaatgtaatgacagtgaaa	8	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166911148G>A	ENST00000303395.4	-	4	601	c.602C>T	c.(601-603)gCg>gTg	p.A201V	SCN1A_ENST00000409050.1_Splice_Site_p.A201V|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Splice_Site_p.A201V|SCN1A_ENST00000423058.2_Splice_Site_p.A201V|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	201					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)	AGGCACTTACGCAAATGTAAT	0.343																																						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.e4+1		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						62	64	63					2																	166911148		2203	4299	6502	SO:0001630	splice_region_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166911148G>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.602+1C>T	2.37:g.166911148G>A			Somatic				AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Splice_Site_p.A201_splice|SCN1A_ENST00000375405.3_Splice_Site_p.A201_splice|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Splice_Site_p.A201_splice	p.A201_splice	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			4	619	-			201					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Splice_Site	SNP	ENST00000303395.4	37	c.602_splice	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	35	5.464873	0.96257	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98	5.24	5.24	0.73138	Ion transport (1);	0.000000	0.64402	D	0.000004	D	0.99375	0.9780	H	0.96943	3.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.974;0.994;0.989	D	0.98545	1.0634	9	.	.	.	.	19.1745	0.93599	0.0:0.0:1.0:0.0	.	201;201;201	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	V	201	ENSP00000407030:A201V;ENSP00000303540:A201V;ENSP00000364554:A201V;ENSP00000386312:A201V	.	A	-	2	0	SCN1A	166619394	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.748000	0.98867	2.597000	0.87782	0.561000	0.74099	GCG		0.343	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	Missense_Mutation	10	27	0	0	0	1	0	10	27					A	166911148	G	A	166911148	5	1	48	1	0	0	0	0	0	0	1	0	13929	1101	38	1	5519	1	SCN1A	2	166911148	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	13350	166911148	76288225	669	5137										
SCN9A	6335	broad.mit.edu	37	chr2	167056352	167056352	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggggacacaaaatacgtttcAatcaaatcagctagaaacat	7	8	3	1	rs201421963		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:167056352A>C	ENST00000409435.1	-	26	4796	c.4797T>G	c.(4795-4797)atT>atG	p.I1599M	SCN9A_ENST00000409672.1_Missense_Mutation_p.I1588M|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.I1600M|SCN9A_ENST00000375387.4_Missense_Mutation_p.I1600M			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1599					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)	AATACGTTTCAATCAAATCAG	0.408																																						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.(4798-4800)atT>atG		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						101	109	106					2																	167056352		2203	4300	6503	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167056352A>C	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.4797T>G	2.37:g.167056352A>C	ENSP00000386330:p.Ile1599Met		Somatic				SCN9A_ENST00000409672.1_Missense_Mutation_p.I1588M|SCN9A_ENST00000409435.1_Missense_Mutation_p.I1599M|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.I1600M	p.I1600M			WXS	Illumina GAIIx	Phase_I	Q15858	SCN9A_HUMAN			27	5140	-			1599					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.4800T>G	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	A	8.418	0.845670	0.16963	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	5.74	4.58	0.56647	.	0.000000	0.35525	N	0.003155	D	0.98245	0.9419	M	0.69185	2.1	0.43879	D	0.996492	D	0.76494	0.999	D	0.77557	0.99	D	0.97948	1.0330	10	0.87932	D	0	.	6.2601	0.20895	0.3455:0.0:0.121:0.5334	.	1588	E7EUN6	.	M	1588;1600;1600;1599	ENSP00000386306:I1588M;ENSP00000364536:I1600M;ENSP00000304748:I1600M;ENSP00000386330:I1599M	ENSP00000304748:I1600M	I	-	3	3	SCN9A	166764598	1.000000	0.71417	0.998000	0.56505	0.045000	0.14185	1.197000	0.32211	0.982000	0.38575	-0.347000	0.07816	ATT		0.408	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		11	100	0	0	0	1	0	11	100					C	167056352	A	C	167056352	3	2	48	1	0	0	0	0	1	0	0	0	13940	126	5	4	1173	4	SCN9A	2	167056352	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	145204	167056352	76143021	670	5138										
SCN9A	6335	broad.mit.edu	37	chr2	167149755	167149755	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actcacctgttggtaaaggtTttcccagtaatcttgggtca	9	9	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:167149755T>G	ENST00000409435.1	-	8	1092	c.1093A>C	c.(1093-1095)Aac>Cac	p.N365H	SCN9A_ENST00000409672.1_Missense_Mutation_p.N365H|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.N366H|SCN9A_ENST00000375387.4_Missense_Mutation_p.N366H			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	365					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)	TGGTAAAGGTTTTCCCAGTAA	0.408																																						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.(1096-1098)Aac>Cac		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						38	39	39					2																	167149755		1946	4165	6111	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167149755T>G	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.1093A>C	2.37:g.167149755T>G	ENSP00000386330:p.Asn365His		Somatic				SCN9A_ENST00000409672.1_Missense_Mutation_p.N365H|SCN9A_ENST00000409435.1_Missense_Mutation_p.N365H|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.N366H	p.N366H			WXS	Illumina GAIIx	Phase_I	Q15858	SCN9A_HUMAN			9	1436	-			365					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1096A>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572912	0.86542	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43;-4.43;-4.43	5.88	5.88	0.94601	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.98994	0.9657	H	0.96547	3.84	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.993;0.999;0.99	D	0.99466	1.0944	10	0.72032	D	0.01	.	16.275	0.82640	0.0:0.0:0.0:1.0	.	365;365;366	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	H	365;366;366;365;230;230	ENSP00000386306:N365H;ENSP00000364536:N366H;ENSP00000304748:N366H;ENSP00000386330:N365H;ENSP00000413212:N230H;ENSP00000393141:N230H	ENSP00000304748:N366H	N	-	1	0	SCN9A	166858001	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.092000	0.64511	2.248000	0.74166	0.477000	0.44152	AAC		0.408	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		5	8	0	0	0	1	0	5	8					G	167149755	T	G	167149755	3	3	48	1	0	0	0	0	1	0	0	0	13940	1841	64	4	4916	4	SCN9A	2	167149755	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	93403	167149755	76049618	671	5139										
SCN7A	6332	broad.mit.edu	37	chr2	167284347	167284347	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcccaataaaacacttaaacCaattgttctctacaatcttg	3	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:167284347C>A	ENST00000409855.1	-	17	2930	c.2804G>T	c.(2803-2805)tGg>tTg	p.W935L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	935					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ACACTTAAACCAATTGTTCTC	0.448																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(2803-2805)tGg>tTg		sodium channel, voltage-gated, type VII, alpha subunit							128	122	124					2																	167284347		1890	4118	6008	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167284347C>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.2804G>T	2.37:g.167284347C>A	ENSP00000386796:p.Trp935Leu		Somatic					p.W935L	NM_002976.3	NP_002967.2	WXS	Illumina GAIIx	Phase_I	Q01118	SCN7A_HUMAN			17	2930	-			935						Missense_Mutation	SNP	ENST00000409855.1	37	c.2804G>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770815	0.31320	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.88896	-2.44	5.02	-0.369	0.12534	Sodium ion transport-associated (1);	0.509186	0.18350	N	0.143911	D	0.88328	0.6407	M	0.83953	2.67	0.34574	D	0.713775	B	0.31125	0.309	B	0.28232	0.087	D	0.87058	0.2151	10	0.87932	D	0	.	14.3515	0.66705	0.6335:0.3665:0.0:0.0	.	935	Q01118	SCN7A_HUMAN	L	935	ENSP00000386796:W935L	ENSP00000259060:W935L	W	-	2	0	SCN7A	166992593	0.997000	0.39634	0.356000	0.25785	0.416000	0.31233	1.237000	0.32695	-0.168000	0.10853	0.591000	0.81541	TGG		0.448	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			16	17	1	0	2.23348e-06	1	2.50077e-06	16	17					A	167284347	C	A	167284347	3	1	48	1	0	0	0	0	1	0	0	0	13938	595	21	5	2280	5	SCN7A	2	167284347	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	134592	167284347	75915026	672	5140										
XIRP2	129446	broad.mit.edu	37	chr2	168099780	168099780	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtttgaaacccaacccatCgacacacttggggcttattc	7	12	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168099780C>T	ENST00000409195.1	+	9	1967	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.I626I|XIRP2_ENST00000409273.1_Silent_p.I404I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	451					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						CCCAACCCATCGACACACTTG	0.448																																						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.(1876-1878)atC>atT		xin actin-binding repeat containing 2							79	82	81					2																	168099780		1958	4127	6085	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099780C>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.1878C>T	2.37:g.168099780C>T			Somatic				XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.I626I|XIRP2_ENST00000409273.1_Silent_p.I404I	p.I626I	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	1967	+			451					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.1878C>T	CCDS42769.1																																																																																				0.448	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		8	47	0	0	0	1	0	8	47					T	168099780	C	T	168099780	2	4	48	1	0	0	0	0	0	0	0	1	17445	874	31	1		1	XIRP2	2	168099780	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	815433	168099780	75099593	673	5141										
XIRP2	129446	broad.mit.edu	37	chr2	168101562	168101563	+	Frame_Shift_Ins	INS	-	-	A													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctagttcagaggaagttttgINSaaaaagatcaaaaccttaaa							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168101562_168101563insA	ENST00000409195.1	+	9	3749_3750	c.3660_3661insA	c.(3661-3663)aaafs	p.K1221fs	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.K1221fs|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.K999fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1046					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						AGGAAGTTTTGAAAAAGATCAA	0.312																																						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.(3658-3663)ttaaaafs		xin actin-binding repeat containing 2																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101562_168101563insA	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.3665dupA	2.37:g.168101567_168101567dupA	ENSP00000386840:p.Lys1221fs		Somatic				XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.LK998fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.LK1220fs|XIRP2_ENST00000409728.1_Intron	p.LK1220fs	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	3749_3750	+			1045					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Frame_Shift_Ins	INS	ENST00000409195.1	37	c.3660_3661insA	CCDS42769.1																																																																																				0.312	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		7	30						7	30	---	---	---	---	A	168101563	-	A	168101562	7	5	48	1	0	1	1	0	0	0	0	0	17445	1281	45	0	3690	0	XIRP2	2	168101562	Frame_Shift_Ins	INS	-	TCGA-ND-A4WC-01A-21D-A28R-08	1782	168101562	75097811	674	5142										
XIRP2	129446	broad.mit.edu	37	chr2	168102751	168102751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaacctactttccaaaaggGactgtactgaaagagagatt	9	7	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168102751G>A	ENST00000409195.1	+	9	4938	c.4849G>A	c.(4849-4851)Gac>Aac	p.D1617N	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1617N|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1395N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1442					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						TTCCAAAAGGGACTGTACTGA	0.333																																						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.(4849-4851)Gac>Aac		xin actin-binding repeat containing 2							44	41	42					2																	168102751		1819	4079	5898	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102751G>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.4849G>A	2.37:g.168102751G>A	ENSP00000386840:p.Asp1617Asn		Somatic				XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1617N|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1395N	p.D1617N	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	4938	+			1442					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.4849G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	4.170	0.030152	0.08101	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02579	4.24;4.24;4.25	5.45	3.63	0.41609	.	0.159012	0.56097	D	0.000030	T	0.02888	0.0086	L	0.33485	1.01	0.32608	N	0.524935	B;B;B	0.33448	0.289;0.412;0.202	B;B;B	0.36766	0.075;0.232;0.111	T	0.32079	-0.9920	10	0.30078	T	0.28	-11.1187	7.9706	0.30126	0.3128:0.0:0.6872:0.0	.	1442;1442;1395	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	1617;1617;1395	ENSP00000386840:D1617N;ENSP00000295237:D1617N;ENSP00000387255:D1395N	ENSP00000295237:D1617N	D	+	1	0	XIRP2	167810997	0.988000	0.35896	0.976000	0.42696	0.164000	0.22412	3.239000	0.51360	1.304000	0.44892	0.557000	0.71058	GAC		0.333	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		13	23	0	0	0	1	0	13	23					A	168102751	G	A	168102751	3	1	48	1	0	0	0	0	1	0	0	0	17445	1174	41	3	4879	3	XIRP2	2	168102751	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1189	168102751	75096622	675	5143										
XIRP2	129446	broad.mit.edu	37	chr2	168103196	168103196	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaacaactccacacagagtCaaatgaaacactgacagcta	6	11	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168103196C>A	ENST00000409195.1	+	9	5383	c.5294C>A	c.(5293-5295)tCa>tAa	p.S1765*	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.S1765*|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.S1543*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1590					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						CACACAGAGTCAAATGAAACA	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.(5293-5295)tCa>tAa		xin actin-binding repeat containing 2							108	102	104					2																	168103196		1885	4106	5991	SO:0001587	stop_gained	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103196C>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.5294C>A	2.37:g.168103196C>A	ENSP00000386840:p.Ser1765*		Somatic				XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.S1765*|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.S1543*	p.S1765*	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	5383	+			1590					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	c.5294C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	42	9.805868	0.99268	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	.	.	.	5.57	4.68	0.58851	.	0.347113	0.31167	N	0.008128	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1381	14.5294	0.67915	0.148:0.852:0.0:0.0	.	.	.	.	X	1765;1765;1543	.	ENSP00000295237:S1765X	S	+	2	0	XIRP2	167811442	1.000000	0.71417	0.983000	0.44433	0.112000	0.19704	5.736000	0.68597	1.319000	0.45190	0.637000	0.83480	TCA		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		21	37	1	0	1.2644e-06	1	1.4261e-06	21	37					A	168103196	C	A	168103196	4	1	48	1	0	0	0	0	0	1	0	0	17445	838	29	2	5324	2	XIRP2	2	168103196	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	445	168103196	75096177	676	5144										
XIRP2	129446	broad.mit.edu	37	chr2	168103954	168103954	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagaaagaactgaggttaatCttccaaaagcccccaaaggc	8	10	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168103954C>A	ENST00000409195.1	+	9	6141	c.6052C>A	c.(6052-6054)Ctt>Att	p.L2018I	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L2018I|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1796I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1843					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						TGAGGTTAATCTTCCAAAAGC	0.438																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(6052-6054)Ctt>Att		xin actin-binding repeat containing 2							51	48	49					2																	168103954		1850	4089	5939	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103954C>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.6052C>A	2.37:g.168103954C>A	ENSP00000386840:p.Leu2018Ile		Somatic				XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L2018I|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1796I	p.L2018I	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	6141	+			1843					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.6052C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	0.618	-0.822111	0.02755	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02656	4.21;4.21;4.21	5.64	2.79	0.32731	.	0.438364	0.21684	N	0.070661	T	0.04227	0.0117	L	0.50919	1.6	0.09310	N	1	B;P;B	0.50272	0.055;0.933;0.01	B;P;B	0.49829	0.012;0.623;0.01	T	0.34576	-0.9823	10	0.15499	T	0.54	-4.1359	4.6828	0.12743	0.3088:0.5307:0.0:0.1605	.	1843;1843;1796	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	2018;2018;1796	ENSP00000386840:L2018I;ENSP00000295237:L2018I;ENSP00000387255:L1796I	ENSP00000295237:L2018I	L	+	1	0	XIRP2	167812200	0.075000	0.21258	0.062000	0.19696	0.258000	0.26162	0.620000	0.24403	0.294000	0.22547	0.585000	0.79938	CTT		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		18	35	1	0	2.35188e-11	1	2.92451e-11	18	35					A	168103954	C	A	168103954	3	1	48	1	0	0	0	0	1	0	0	0	17445	913	32	2	6082	2	XIRP2	2	168103954	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	758	168103954	75095419	677	5145										
XIRP2	129446	broad.mit.edu	37	chr2	168106676	168106676	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagattacacagaacaaatCtttcttttcctctgtgaaag	6	8	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168106676C>A	ENST00000409195.1	+	9	8863	c.8774C>A	c.(8773-8775)tCt>tAt	p.S2925Y	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2925Y|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2703Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2750					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						CAGAACAAATCTTTCTTTTCC	0.378																																						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.(8773-8775)tCt>tAt		xin actin-binding repeat containing 2							81	78	78					2																	168106676		1824	4078	5902	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106676C>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.8774C>A	2.37:g.168106676C>A	ENSP00000386840:p.Ser2925Tyr		Somatic				XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2925Y|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2703Y	p.S2925Y	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	8863	+			2750					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.8774C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839978	0.51057	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02837	4.14;4.14;4.14	6.02	4.97	0.65823	.	0.527202	0.20025	N	0.100832	T	0.09069	0.0224	M	0.63428	1.95	0.31377	N	0.679464	D;D;D	0.65815	0.991;0.995;0.995	P;P;P	0.58172	0.687;0.834;0.834	T	0.00607	-1.1647	10	0.62326	D	0.03	-16.2478	9.7926	0.40715	0.1443:0.7735:0.0:0.0822	.	2750;2750;2703	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	2925;2925;2703;339	ENSP00000386840:S2925Y;ENSP00000295237:S2925Y;ENSP00000387255:S2703Y	ENSP00000295237:S2925Y	S	+	2	0	XIRP2	167814922	0.031000	0.19500	1.000000	0.80357	0.982000	0.71751	-0.036000	0.12185	2.865000	0.98341	0.655000	0.94253	TCT		0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		29	53	1	0	1.38854e-25	1	1.95732e-25	29	53					A	168106676	C	A	168106676	3	1	48	1	0	0	0	0	1	0	0	0	17445	913	32	2	8804	2	XIRP2	2	168106676	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2722	168106676	75092697	678	5146										
XIRP2	129446	broad.mit.edu	37	chr2	168107532	168107532	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccggttccaattgtagagaaGaggtctgaaatcatcatgtc	10	8	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168107532G>A	ENST00000409195.1	+	9	9719	c.9630G>A	c.(9628-9630)aaG>aaA	p.K3210K	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.K3210K|XIRP2_ENST00000409273.1_Silent_p.K2988K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3035					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						TTGTAGAGAAGAGGTCTGAAA	0.458																																						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.(9628-9630)aaG>aaA		xin actin-binding repeat containing 2							73	74	74					2																	168107532		1939	4135	6074	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107532G>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.9630G>A	2.37:g.168107532G>A			Somatic				XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.K3210K|XIRP2_ENST00000409273.1_Silent_p.K2988K	p.K3210K	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	9719	+			3035					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.9630G>A	CCDS42769.1																																																																																				0.458	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		35	64	0	0	0	1	0	35	64					A	168107532	G	A	168107532	2	1	48	1	0	0	0	0	0	0	0	1	17445	933	33	3		3	XIRP2	2	168107532	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	856	168107532	75091841	679	5147										
XIRP2	129446	broad.mit.edu	37	chr2	168114449	168114449	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaaatccaaaggaaattatGatgaaggttttggacataag	9	4	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168114449G>T	ENST00000409728.1	+	11	1581	c.1492G>T	c.(1492-1494)Gat>Tat	p.D498Y	XIRP2_ENST00000409756.2_Missense_Mutation_p.D465Y|XIRP2_ENST00000409605.1_Missense_Mutation_p.D243Y|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.D498Y|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.D465Y	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						AGGAAATTATGATGAAGGTTT	0.328																																						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.(1492-1494)Gat>Tat		xin actin-binding repeat containing 2							76	71	72					2																	168114449		1838	4080	5918	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168114449G>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.1492G>T	2.37:g.168114449G>T	ENSP00000386619:p.Asp498Tyr		Somatic				XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.D498Y|XIRP2_ENST00000409605.1_Missense_Mutation_p.D243Y|XIRP2_ENST00000409043.1_Missense_Mutation_p.D465Y|XIRP2_ENST00000409756.2_Missense_Mutation_p.D465Y|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409273.1_3'UTR	p.D498Y	NM_001199143.1	NP_001186072.1	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			11	1581	+			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.1492G>T	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454003	0.84209	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.81078	-1.42;-1.42;-1.42;-1.42;-1.45	5.82	5.82	0.92795	.	.	.	.	.	D	0.90762	0.7100	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91112	0.4923	8	0.87932	D	0	.	20.088	0.97803	0.0:0.0:1.0:0.0	.	465;498	A4UGR9-4;A4UGR9-6	.;.	Y	465;498;465;498;243	ENSP00000386454:D465Y;ENSP00000386619:D498Y;ENSP00000386724:D465Y;ENSP00000415541:D498Y;ENSP00000386981:D243Y	ENSP00000386454:D465Y	D	+	1	0	XIRP2	167822695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.799000	0.99117	2.739000	0.93911	0.655000	0.94253	GAT		0.328	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		26	30	1	0	3.28513e-13	1	4.19729e-13	26	30					T	168114449	G	T	168114449	3	4	48	1	0	0	0	0	1	0	0	0	17445	1290	45	2	10810	2	XIRP2	2	168114449	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	6917	168114449	75084924	680	5148										
ABCB11	8647	broad.mit.edu	37	chr2	169820792	169820792	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaccaggtaagaaagctgaGacttggagcgttgccggatg	15	8	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:169820792G>T	ENST00000263817.6	-	18	2226	c.2102C>A	c.(2101-2103)tCt>tAt	p.S701Y		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	701					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)	AGAAAGCTGAGACTTGGAGCG	0.463																																						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.(2101-2103)tCt>tAt		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						61	74	70					2																	169820792		1943	4175	6118	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.chr2:169820792G>T	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.2102C>A	2.37:g.169820792G>T	ENSP00000263817:p.Ser701Tyr		Somatic					p.S701Y	NM_003742.2	NP_003733.2	WXS	Illumina GAIIx	Phase_I	O95342	ABCBB_HUMAN			18	2226	-			701					Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.2102C>A	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593234	0.86953	.	.	ENSG00000073734	ENST00000263817	D	0.87966	-2.32	5.68	5.68	0.88126	.	720.329000	0.00166	N	0.000000	D	0.93311	0.7868	M	0.67397	2.05	0.80722	D	1	D;P	0.53462	0.96;0.722	P;B	0.56514	0.8;0.426	T	0.81219	-0.1032	10	0.35671	T	0.21	.	19.3745	0.94503	0.0:0.0:1.0:0.0	.	143;701	B4DZQ8;O95342	.;ABCBB_HUMAN	Y	701	ENSP00000263817:S701Y	ENSP00000263817:S701Y	S	-	2	0	ABCB11	169529038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.690000	0.74567	2.678000	0.91216	0.557000	0.71058	TCT		0.463	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		3	4	1	0	0.014758	1	0.015099	3	4					T	169820792	G	T	169820792	3	4	48	1	0	0	0	0	1	0	0	0	42	942	33	2	1907	2	ABCB11	2	169820792	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1706343	169820792	73378581	681	5149										
ABCB11	8647	broad.mit.edu	37	chr2	169828434	169828434	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcttccattgttgcatcttCtctgccatagcgaatatttt	6	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:169828434C>A	ENST00000263817.6	-	14	1685	c.1561G>T	c.(1561-1563)Gaa>Taa	p.E521*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	521	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	GTTGCATCTTCTCTGCCATAG	0.473																																						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.(1561-1563)Gaa>Taa		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						137	137	137					2																	169828434		1973	4150	6123	SO:0001587	stop_gained	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.chr2:169828434C>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.1561G>T	2.37:g.169828434C>A	ENSP00000263817:p.Glu521*		Somatic					p.E521*	NM_003742.2	NP_003733.2	WXS	Illumina GAIIx	Phase_I	O95342	ABCBB_HUMAN			14	1685	-			521			ABC transporter 1.		Q53TL2|Q9UNB2	Nonsense_Mutation	SNP	ENST00000263817.6	37	c.1561G>T	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	36	5.969449	0.97156	.	.	ENSG00000073734	ENST00000263817	.	.	.	5.83	2.11	0.27256	.	0.264207	0.44285	D	0.000461	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	11.1162	0.48262	0.0:0.7702:0.0:0.2298	.	.	.	.	X	521	.	ENSP00000263817:E521X	E	-	1	0	ABCB11	169536680	0.998000	0.40836	0.973000	0.42090	0.989000	0.77384	2.234000	0.43035	0.110000	0.17919	0.650000	0.86243	GAA		0.473	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		16	41	1	0	6.31663e-08	1	7.35827e-08	16	41					A	169828434	C	A	169828434	4	1	48	1	0	0	0	0	0	1	0	0	42	922	32	2	2464	2	ABCB11	2	169828434	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	7642	169828434	73370939	682	5150										
LRP2	4036	broad.mit.edu	37	chr2	170002290	170002290	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgagttgatgaaagattcGaacttgagtgagccaagggt	13	5	1	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170002290G>A	ENST00000263816.3	-	70	13240	c.12955C>T	c.(12955-12957)Cga>Tga	p.R4319*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4319					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)"	TGAAAGATTCGAACTTGAGTG	0.363																																						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.(12955-12957)Cga>Tga		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)						112	101	104					2																	170002290		2203	4300	6503	SO:0001587	stop_gained	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.chr2:170002290G>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.12955C>T	2.37:g.170002290G>A	ENSP00000263816:p.Arg4319*		Somatic					p.R4319*	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)	70	13240	-			4319					O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	c.12955C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	55	24.359493	0.99960	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.38	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2705	0.66149	0.0:0.0:0.8515:0.1485	.	.	.	.	X	4319	.	ENSP00000263816:R4319X	R	-	1	2	LRP2	169710536	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.642000	0.61383	1.380000	0.46344	0.655000	0.94253	CGA		0.363	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		8	53	0	0	0	1	0	8	53					A	170002290	G	A	170002290	4	1	48	1	0	0	0	0	0	1	0	0	8965	1066	37	1	1052	1	LRP2	2	170002290	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	173856	170002290	73197083	683	5151										
LRP2	4036	broad.mit.edu	37	chr2	170042459	170042459	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaggacgacaggaacaataGaaactggttaaggtgtctgt	12	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170042459G>T	ENST00000263816.3	-	50	9684	c.9399C>A	c.(9397-9399)ttC>ttA	p.F3133L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3133	EGF-like 11. {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)"	AGGAACAATAGAAACTGGTTA	0.443																																						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.(9397-9399)ttC>ttA		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)						86	85	85					2																	170042459		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.chr2:170042459G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9399C>A	2.37:g.170042459G>T	ENSP00000263816:p.Phe3133Leu		Somatic					p.F3133L	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)	50	9684	-			3133			EGF-like 11.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9399C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038857	0.75617	.	.	ENSG00000081479	ENST00000263816	D	0.95918	-3.85	5.88	2.74	0.32292	Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96769	0.8945	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95911	0.8923	10	0.54805	T	0.06	.	10.914	0.47124	0.2622:0.0:0.7378:0.0	.	3133	P98164	LRP2_HUMAN	L	3133	ENSP00000263816:F3133L	ENSP00000263816:F3133L	F	-	3	2	LRP2	169750705	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.422000	0.52749	0.825000	0.34637	0.655000	0.94253	TTC		0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		25	30	1	0	4.72057e-08	1	5.51616e-08	25	30					T	170042459	G	T	170042459	3	4	48	1	0	0	0	0	1	0	0	0	8965	933	33	2	4688	2	LRP2	2	170042459	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	40169	170042459	73156914	684	5152										
LRP2	4036	broad.mit.edu	37	chr2	170063458	170063458	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attgatacgaatccttgcaaTtatatctaaagaatcatcaa	4	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170063458T>G	ENST00000263816.3	-	39	7057	c.6772A>C	c.(6772-6774)Att>Ctt	p.I2258L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2258					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)"	ATCCTTGCAATTATATCTAAA	0.433																																						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.(6772-6774)Att>Ctt		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)						140	141	140					2																	170063458		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.chr2:170063458T>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6772A>C	2.37:g.170063458T>G	ENSP00000263816:p.Ile2258Leu		Somatic					p.I2258L	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)	39	7057	-			2258					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.6772A>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367382	0.82463	.	.	ENSG00000081479	ENST00000263816	D	0.92965	-3.14	5.89	5.89	0.94794	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96071	0.8720	M	0.83312	2.635	0.80722	D	1	D	0.60575	0.988	D	0.69654	0.965	D	0.96206	0.9149	10	0.56958	D	0.05	.	16.3127	0.82898	0.0:0.0:0.0:1.0	.	2258	P98164	LRP2_HUMAN	L	2258	ENSP00000263816:I2258L	ENSP00000263816:I2258L	I	-	1	0	LRP2	169771704	1.000000	0.71417	0.832000	0.32986	0.563000	0.35712	6.302000	0.72788	2.246000	0.74042	0.533000	0.62120	ATT		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		45	86	0	0	0	1	0	45	86					G	170063458	T	G	170063458	3	3	48	1	0	0	0	0	1	0	0	0	8965	1493	52	4	7359	4	LRP2	2	170063458	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	20999	170063458	73135915	685	5153										
LRP2	4036	broad.mit.edu	37	chr2	170081836	170081836	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttacctcgattgactgagttCtaggattggtagaataaagg	11	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170081836C>A	ENST00000263816.3	-	33	5807	c.5522G>T	c.(5521-5523)aGa>aTa	p.R1841I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1841					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)"	TGACTGAGTTCTAGGATTGGT	0.388																																						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.(5521-5523)aGa>aTa		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)						93	88	90					2																	170081836		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.chr2:170081836C>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.5522G>T	2.37:g.170081836C>A	ENSP00000263816:p.Arg1841Ile		Somatic					p.R1841I	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)	33	5807	-			1841					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.5522G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	9.188	1.025183	0.19433	.	.	ENSG00000081479	ENST00000263816	D	0.91237	-2.81	5.78	0.604	0.17547	Six-bladed beta-propeller, TolB-like (1);	0.777644	0.12578	N	0.456718	T	0.76969	0.4062	N	0.11064	0.09	0.09310	N	1	B	0.24882	0.113	B	0.15484	0.013	T	0.63265	-0.6676	10	0.35671	T	0.21	.	5.1306	0.14907	0.1038:0.367:0.4006:0.1286	.	1841	P98164	LRP2_HUMAN	I	1841	ENSP00000263816:R1841I	ENSP00000263816:R1841I	R	-	2	0	LRP2	169790082	0.000000	0.05858	0.024000	0.17045	0.637000	0.38172	0.067000	0.14510	-0.190000	0.10465	0.650000	0.86243	AGA		0.388	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		10	36	1	0	0.00621372	1	0.0064192	10	36					A	170081836	C	A	170081836	3	1	48	1	0	0	0	0	1	0	0	0	8965	913	32	2	8633	2	LRP2	2	170081836	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	18378	170081836	73117537	686	5154										
LRP2	4036	broad.mit.edu	37	chr2	170094769	170094769	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaggtgacactgtcggcaatAattttgttctgacttgccac	10	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170094769A>C	ENST00000263816.3	-	27	4623	c.4338T>G	c.(4336-4338)atT>atG	p.I1446M		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1446					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)"	TGTCGGCAATAATTTTGTTCT	0.383																																						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.(4336-4338)atT>atG		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)						77	73	74					2																	170094769		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.chr2:170094769A>C		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.4338T>G	2.37:g.170094769A>C	ENSP00000263816:p.Ile1446Met		Somatic					p.I1446M	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)	27	4623	-			1446					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4338T>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606267	0.46527	.	.	ENSG00000081479	ENST00000263816	D	0.94046	-3.34	5.19	-5.32	0.02722	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.93661	0.7975	M	0.87456	2.885	0.80722	D	1	D	0.54964	0.969	P	0.52856	0.711	D	0.91286	0.5055	10	0.87932	D	0	.	8.5655	0.33536	0.3946:0.0:0.4897:0.1156	.	1446	P98164	LRP2_HUMAN	M	1446	ENSP00000263816:I1446M	ENSP00000263816:I1446M	I	-	3	3	LRP2	169803015	0.000000	0.05858	0.029000	0.17559	0.331000	0.28603	-0.231000	0.09069	-0.564000	0.06070	-0.290000	0.09829	ATT		0.383	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		11	26	0	0	0	1	0	11	26					C	170094769	A	C	170094769	3	2	48	1	0	0	0	0	1	0	0	0	8965	358	13	4	9841	4	LRP2	2	170094769	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	12933	170094769	73104604	687	5155										
LRP2	4036	broad.mit.edu	37	chr2	170135978	170135978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaaatttaccatatctatgCggttgaccttggtttccact	6	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170135978C>T	ENST00000263816.3	-	12	1754	c.1469G>A	c.(1468-1470)cGc>cAc	p.R490H	LRP2_ENST00000443831.1_Missense_Mutation_p.R490H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	490					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)"	CATATCTATGCGGTTGACCTT	0.428																																						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.(1468-1470)cGc>cAc		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	127	126					2																	170135978		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.chr2:170135978C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1469G>A	2.37:g.170135978C>T	ENSP00000263816:p.Arg490His		Somatic				LRP2_ENST00000443831.1_Missense_Mutation_p.R490H	p.R490H	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	1754	-			490					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.1469G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668255	0.88348	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.94497	-3.44;-3.44	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	0.046609	0.85682	D	0.000000	D	0.97148	0.9068	M	0.78344	2.41	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.70716	0.97;0.939	D	0.96734	0.9541	9	.	.	.	.	19.5773	0.95450	0.0:1.0:0.0:0.0	.	490;490	E9PC35;P98164	.;LRP2_HUMAN	H	490	ENSP00000263816:R490H;ENSP00000409813:R490H	.	R	-	2	0	LRP2	169844224	1.000000	0.71417	0.988000	0.46212	0.896000	0.52359	7.751000	0.85126	2.643000	0.89663	0.650000	0.86243	CGC		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		29	40	0	0	0	1	0	29	40					T	170135978	C	T	170135978	3	4	48	1	0	0	0	0	1	0	0	0	8965	768	27	1	12770	1	LRP2	2	170135978	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	41209	170135978	73063395	688	5156										
KBTBD10	10324	broad.mit.edu	37	chr2	170367292	170367292	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actggctgagcagattcccaGaaatcattccagcattgtta	8	10	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170367292G>T	ENST00000284669.1	+	1	1081	c.1004G>T	c.(1003-1005)aGa>aTa	p.R335I	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	335					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											CAGATTCCCAGAAATCATTCC	0.428																																						ENST00000284669.1																			0											c.(1003-1005)aGa>aTa		kelch-like family member 41							112	110	111					2																	170367292		2203	4300	6503	SO:0001583	missense	10324							g.chr2:170367292G>T	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"Kelch-like", "BTB/POZ domain containing"	16905	protein-coding gene	gene with protein product	"sarcomeric muscle protein"	607701	"kelch repeat and BTB (POZ) domain containing 10", "kelch-like 41 (Drosophila)"	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1004G>T	2.37:g.170367292G>T	ENSP00000284669:p.Arg335Ile		Somatic				RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	p.R335I	NM_006063.2	NP_006054.2	WXS	Illumina GAIIx	Phase_I					1	1081	+								Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	c.1004G>T	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114112	0.77210	.	.	ENSG00000239474	ENST00000284669	T	0.73258	-0.73	5.47	5.47	0.80525	Kelch-type beta propeller (1);	0.046101	0.85682	D	0.000000	T	0.72835	0.3510	L	0.50333	1.59	0.80722	D	1	P	0.49696	0.927	P	0.46543	0.52	T	0.76686	-0.2868	10	0.87932	D	0	.	19.3323	0.94295	0.0:0.0:1.0:0.0	.	335	O60662	KBTBA_HUMAN	I	335	ENSP00000284669:R335I	ENSP00000284669:R335I	R	+	2	0	KBTBD10	170075538	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.824000	0.75288	2.568000	0.86640	0.467000	0.42956	AGA		0.428	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		30	53	1	0	3.1745e-13	1	4.05871e-13	30	53					T	170367292	G	T	170367292	3	4	48	1	0	0	0	0	1	0	0	0	7999	942	33	2	1006	2	KBTBD10	2	170367292	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	231314	170367292	72832081	689	5157										
KBTBD10	10324	broad.mit.edu	37	chr2	170374884	170374884	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttttgaccttacaacaaatAagtgagttgccacatcttag	6	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170374884A>G	ENST00000284669.1	+	4	1638	c.1561A>G	c.(1561-1563)Aaa>Gaa	p.K521E	KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Splice_Site_p.K459E|RP11-724O16.1_ENST00000513963.1_Splice_Site_p.K459E	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	521					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TACAACAAATAAGTGAGTTGC	0.363																																						ENST00000284669.1																			0											c.e4+1		kelch-like family member 41							64	62	62					2																	170374884		2203	4300	6503	SO:0001630	splice_region_variant	10324							g.chr2:170374884A>G	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"Kelch-like", "BTB/POZ domain containing"	16905	protein-coding gene	gene with protein product	"sarcomeric muscle protein"	607701	"kelch repeat and BTB (POZ) domain containing 10", "kelch-like 41 (Drosophila)"	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1562+1A>G	2.37:g.170374884A>G			Somatic				RP11-724O16.1_ENST00000513963.1_Splice_Site_p.K459_splice|KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Splice_Site_p.K459_splice	p.K521_splice	NM_006063.2	NP_006054.2	WXS	Illumina GAIIx	Phase_I					4	1638	+								Q53R42	Splice_Site	SNP	ENST00000284669.1	37	c.1562_splice	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833178	0.71258	.	.	ENSG00000163093;ENSG00000251569;ENSG00000239474	ENST00000554017;ENST00000513963;ENST00000284669	T;T;T	0.78003	-1.14;-1.14;-1.14	5.82	5.82	0.92795	Kelch-type beta propeller (1);	0.043260	0.85682	D	0.000000	T	0.77032	0.4071	M	0.64404	1.975	0.80722	D	1	P;B	0.35155	0.487;0.368	B;B	0.35510	0.149;0.204	T	0.78411	-0.2214	10	0.59425	D	0.04	.	16.5441	0.84409	1.0:0.0:0.0:0.0	.	459;521	E9PBE3;O60662	.;KBTBA_HUMAN	E	459;459;521	ENSP00000452313:K459E;ENSP00000424363:K459E;ENSP00000284669:K521E	ENSP00000284669:K521E	K	+	1	0	BBS5;RP11-724O16.1;KBTBD10	170083130	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	9.284000	0.95882	2.364000	0.80123	0.524000	0.50904	AAA		0.363	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063	Missense_Mutation	4	24	0	0	0	1	0	4	24					G	170374884	A	G	170374884	5	3	48	1	0	0	0	0	0	0	1	0	7999	376	13	4	1575	4	KBTBD10	2	170374884	Splice_Site	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	7592	170374884	72824489	690	5158										
KBTBD10	10324	broad.mit.edu	37	chr2	170377387	170377387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctagatgggatgtaatgaccGaatttccccaagaaagaagc	10	8	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170377387G>A	ENST00000284669.1	+	5	1656	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Missense_Mutation_p.E465K|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.E465K	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	527					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TGTAATGACCGAATTTCCCCA	0.343																																						ENST00000284669.1																			0											c.(1579-1581)Gaa>Aaa		kelch-like family member 41							122	108	113					2																	170377387		2203	4300	6503	SO:0001583	missense	10324							g.chr2:170377387G>A	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"Kelch-like", "BTB/POZ domain containing"	16905	protein-coding gene	gene with protein product	"sarcomeric muscle protein"	607701	"kelch repeat and BTB (POZ) domain containing 10", "kelch-like 41 (Drosophila)"	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1579G>A	2.37:g.170377387G>A	ENSP00000284669:p.Glu527Lys		Somatic				RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.E465K|KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Missense_Mutation_p.E465K	p.E527K	NM_006063.2	NP_006054.2	WXS	Illumina GAIIx	Phase_I					5	1656	+								Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	c.1579G>A	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894806	0.91962	.	.	ENSG00000163093;ENSG00000251569;ENSG00000239474	ENST00000554017;ENST00000513963;ENST00000284669	T;T;T	0.78003	-1.14;-1.14;-1.14	5.29	5.29	0.74685	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.86838	0.6029	M	0.67517	2.055	0.80722	D	1	D;D	0.76494	0.999;0.963	D;P	0.71414	0.973;0.618	D	0.85354	0.1103	10	0.38643	T	0.18	.	19.2781	0.94040	0.0:0.0:1.0:0.0	.	465;527	E9PBE3;O60662	.;KBTBA_HUMAN	K	465;465;527	ENSP00000452313:E465K;ENSP00000424363:E465K;ENSP00000284669:E527K	ENSP00000284669:E527K	E	+	1	0	BBS5;RP11-724O16.1;KBTBD10	170085633	1.000000	0.71417	0.947000	0.38551	0.821000	0.46438	9.414000	0.97362	2.634000	0.89283	0.591000	0.81541	GAA		0.343	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		17	37	0	0	0	1	0	17	37					A	170377387	G	A	170377387	3	1	48	1	0	0	0	0	1	0	0	0	7999	1059	37	1	1597	1	KBTBD10	2	170377387	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2503	170377387	72821986	691	5159										
PPIG	9360	broad.mit.edu	37	chr2	170487452	170487452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaacatcggaaaaattcccGaaaacacaagaaagaaaaga	7	7	0	3	rs200547187		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170487452G>A	ENST00000260970.3	+	10	936	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	PPIG_ENST00000462903.1_Missense_Mutation_p.R239Q|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.R224Q|PPIG_ENST00000448752.2_Missense_Mutation_p.R239Q	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	239	Arg/Lys-rich (basic).				protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.R239Q(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAAAATTCCCGAAAACACAAG	0.333													G|||	1	0.000199681	0	0	5008	,	,		17434	0.001		0	False		,,,				2504	0					ENST00000260970.3																			1	Substitution - Missense(1)	p.R239Q(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(715-717)cGa>cAa		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						29	33	31					2																	170487452		2153	4174	6327	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170487452G>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.716G>A	2.37:g.170487452G>A	ENSP00000260970:p.Arg239Gln		Somatic				PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000462903.1_Missense_Mutation_p.R239Q|PPIG_ENST00000448752.2_Missense_Mutation_p.R239Q|PPIG_ENST00000409714.3_Missense_Mutation_p.R224Q	p.R239Q	NM_004792.2	NP_004783.2	WXS	Illumina GAIIx	Phase_I	Q13427	PPIG_HUMAN			10	936	+			239			Arg/Lys-rich (basic).		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.716G>A	CCDS2235.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.99	3.739031	0.69304	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752;ENST00000414307	T;T;T;T;T;T	0.28895	2.24;1.81;2.22;1.59;2.24;1.93	5.74	5.74	0.90152	.	0.746276	0.11691	N	0.538939	T	0.14700	0.0355	N	0.19112	0.55	0.35323	D	0.784961	P;P;P;P;P	0.48640	0.913;0.645;0.645;0.487;0.645	B;B;B;B;B	0.30855	0.121;0.062;0.062;0.063;0.062	T	0.07083	-1.0791	10	0.23891	T	0.37	0.117	7.8993	0.29725	0.1941:0.0:0.8059:0.0	.	235;224;224;239;239	C9JM79;E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;.;PPIG_HUMAN	Q	239;239;235;224;239;239;239	ENSP00000260970:R239Q;ENSP00000408683:R235Q;ENSP00000386245:R224Q;ENSP00000435987:R239Q;ENSP00000407083:R239Q;ENSP00000402222:R239Q	ENSP00000260970:R239Q	R	+	2	0	PPIG	170195698	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.228000	0.42981	2.683000	0.91414	0.655000	0.94253	CGA		0.333	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			12	17	0	0	0	1	0	12	17					A	170487452	G	A	170487452	3	1	48	1	0	0	0	0	1	0	0	0	12336	1058	37	1	746	1	PPIG	2	170487452	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	110065	170487452	72711921	692	5160										
PHOSPHO2	493911	broad.mit.edu	37	chr2	170557600	170557600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaactacgtgattcttatcGaaaaggattttggacagaat	9	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170557600G>A	ENST00000359744.3	+	4	507	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	40							metal ion binding (GO:0046872)|pyridoxal phosphatase activity (GO:0033883)	p.R40Q(1)		breast(1)|large_intestine(1)|lung(6)|skin(2)	10						GATTCTTATCGAAAAGGATTT	0.363																																						ENST00000359744.3																			1	Substitution - Missense(1)	p.R40Q(1)	lung(1)	breast(1)|large_intestine(1)|lung(6)|skin(2)	10						c.(118-120)cGa>cAa		phosphatase, orphan 2							96	99	98					2																	170557600		2203	4300	6503	SO:0001583	missense	493911						metal ion binding|pyridoxal phosphatase activity	g.chr2:170557600G>A	BC022324	CCDS33319.1	2q31.1	2008-02-05			ENSG00000144362	ENSG00000144362			28316	protein-coding gene	gene with protein product						16054448	Standard	NM_001199285		Approved	MGC22679	uc021vsh.1	Q8TCD6	OTTHUMG00000153981	ENST00000359744.3:c.119G>A	2.37:g.170557600G>A	ENSP00000352782:p.Arg40Gln		Somatic				KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron	p.R40Q	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	WXS	Illumina GAIIx	Phase_I	Q8TCD6	PHOP2_HUMAN			4	507	+			40					B2RC30|D3DPC7	Missense_Mutation	SNP	ENST00000359744.3	37	c.119G>A	CCDS33319.1	.	.	.	.	.	.	.	.	.	.	G	4.217	0.039070	0.08148	.	.	ENSG00000144362	ENST00000359744;ENST00000438838;ENST00000438710;ENST00000449906	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.24	2.85	0.33270	HAD-like domain (1);	0.519054	0.17826	N	0.160694	T	0.17109	0.0411	N	0.03983	-0.305	0.09310	N	0.999994	B	0.12630	0.006	B	0.09377	0.004	T	0.26018	-1.0115	10	0.09084	T	0.74	.	9.5989	0.39591	0.7909:0.0:0.2091:0.0	.	40	Q8TCD6	PHOP2_HUMAN	Q	40	ENSP00000352782:R40Q;ENSP00000393983:R40Q;ENSP00000411844:R40Q;ENSP00000416790:R40Q	ENSP00000352782:R40Q	R	+	2	0	PHOSPHO2	170265846	0.044000	0.20184	0.448000	0.26945	0.920000	0.55202	2.139000	0.42149	0.394000	0.25230	-0.294000	0.09567	CGA		0.363	PHOSPHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333304.1	NM_001008489		24	36	0	0	0	1	0	24	36					A	170557600	G	A	170557600	3	1	48	1	0	0	0	0	1	0	0	0	11866	1058	37	1	121	1	PHOSPHO2	2	170557600	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	70148	170557600	72641773	693	5161										
KLHL23	151230	broad.mit.edu	37	chr2	170591663	170591663	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcagtgtccttcaggcataAttttccattgtcaccgagcc	7	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170591663A>C	ENST00000392647.2	+	2	383	c.139A>C	c.(139-141)Att>Ctt	p.I47L	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.I47L	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	47	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TTCAGGCATAATTTTCCATTG	0.343																																						ENST00000392647.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						c.(139-141)Att>Ctt		kelch-like family member 23							72	81	78					2																	170591663		2203	4300	6503	SO:0001583	missense	151230							g.chr2:170591663A>C	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"Kelch-like", "BTB/POZ domain containing"	27506	protein-coding gene	gene with protein product			"kelch-like 23 (Drosophila)"				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.139A>C	2.37:g.170591663A>C	ENSP00000376419:p.Ile47Leu		Somatic				KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.I47L	p.I47L	NM_144711.5	NP_653312.2	WXS	Illumina GAIIx	Phase_I	Q8NBE8	KLH23_HUMAN			2	383	+			47			BTB.		Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	37	c.139A>C	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	A	9.224	1.034045	0.19590	.	.	ENSG00000213160	ENST00000272797;ENST00000392647	T;T	0.66995	-0.24;-0.24	5.81	3.42	0.39159	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.272254	0.40144	N	0.001163	T	0.35624	0.0938	N	0.02960	-0.455	0.30536	N	0.766926	B	0.02656	0.0	B	0.09377	0.004	T	0.21381	-1.0247	9	0.28530	T	0.3	.	4.772	0.13160	0.6922:0.124:0.0653:0.1185	.	47	Q8NBE8	KLH23_HUMAN	L	47	ENSP00000272797:I47L;ENSP00000376419:I47L	ENSP00000272797:I47L	I	+	1	0	KLHL23	170299909	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	3.720000	0.54933	0.447000	0.26695	-0.336000	0.08194	ATT		0.343	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		31	54	0	0	0	1	0	31	54					C	170591663	A	C	170591663	3	2	48	1	0	0	0	0	1	0	0	0	8387	101	4	4	141	4	KLHL23	2	170591663	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	34063	170591663	72607710	694	5162										
UBR3	130507	broad.mit.edu	37	chr2	170843295	170843295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gattagttgtactgttacaaGcatcctcaggtaaaatcaaa	7	7	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170843295G>A	ENST00000272793.5	+	25	3825	c.3775G>A	c.(3775-3777)Gca>Aca	p.A1259T	UBR3_ENST00000392631.1_Missense_Mutation_p.A80T|UBR3_ENST00000418381.1_Missense_Mutation_p.A1259T			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1259					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						ACTGTTACAAGCATCCTCAGG	0.353																																						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.(3775-3777)Gca>Aca		ubiquitin protein ligase E3 component n-recognin 3 (putative)							93	93	93					2																	170843295		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.chr2:170843295G>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.3775G>A	2.37:g.170843295G>A	ENSP00000272793:p.Ala1259Thr		Somatic				UBR3_ENST00000392631.1_Missense_Mutation_p.A80T|UBR3_ENST00000418381.1_Missense_Mutation_p.A1259T	p.A1259T			WXS	Illumina GAIIx	Phase_I	Q6ZT12	UBR3_HUMAN			25	3825	+			1259					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.3775G>A		.	.	.	.	.	.	.	.	.	.	G	25.7	4.669863	0.88348	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631	T;T;T	0.45276	0.95;0.95;0.9	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	L	0.45352	1.415	0.41310	D	0.987106	P;P;D	0.63880	0.598;0.827;0.993	B;P;D	0.70935	0.309;0.602;0.971	T	0.40683	-0.9550	10	0.14656	T	0.56	.	15.2865	0.73833	0.0:0.1404:0.8596:0.0	.	1259;80;1259	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	T	1259;1259;1259;80	ENSP00000272793:A1259T;ENSP00000396068:A1259T;ENSP00000376408:A80T	ENSP00000272793:A1259T	A	+	1	0	UBR3	170551541	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.531000	0.81973	2.461000	0.83175	0.585000	0.79938	GCA		0.353	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		28	35	0	0	0	1	0	28	35					A	170843295	G	A	170843295	3	1	48	1	0	0	0	0	1	0	0	0	16918	971	34	3	3873	3	UBR3	2	170843295	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	251632	170843295	72356078	695	5163										
MYO3B	140469	broad.mit.edu	37	chr2	171248036	171248036	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctttttttttcaggagagaGaaaaattttcatatatttta	5	3	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:171248036G>T	ENST00000408978.4	+	15	1727	c.1584G>T	c.(1582-1584)gaG>gaT	p.E528D	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.E537D|MYO3B_ENST00000409044.3_Missense_Mutation_p.E528D	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	528	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						TCAGGAGAGAGAAAAATTTTC	0.323																																						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.(1609-1611)gaG>gaT		myosin IIIB							21	22	22					2																	171248036		1773	4045	5818	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171248036G>T		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.1584G>T	2.37:g.171248036G>T	ENSP00000386213:p.Glu528Asp		Somatic				MYO3B_ENST00000408978.4_Missense_Mutation_p.E528D|MYO3B_ENST00000409044.3_Missense_Mutation_p.E528D|MYO3B_ENST00000602629.1_3'UTR	p.E537D			WXS	Illumina GAIIx	Phase_I	Q8WXR4	MYO3B_HUMAN			15	1611	+			528			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.1611G>T	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309512	0.81247	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	6.17	6.17	0.99709	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93028	0.7781	H	0.95917	3.74	0.48185	D	0.999604	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.986;1.0	D	0.94281	0.7520	10	0.72032	D	0.01	.	15.8933	0.79318	0.0658:0.0:0.9342:0.0	.	528;528;528	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	D	528;528;527;537;537	ENSP00000386497:E528D;ENSP00000386213:E528D;ENSP00000446237:E537D;ENSP00000335100:E537D	ENSP00000314213:E527D	E	+	3	2	MYO3B	170956282	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.693000	0.54735	2.941000	0.99782	0.655000	0.94253	GAG		0.323	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			8	9	1	0	0.0381472	1	0.0387537	8	9					T	171248036	G	T	171248036	3	4	48	1	0	0	0	0	1	0	0	0	10086	933	33	2	1642	2	MYO3B	2	171248036	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	404741	171248036	71951337	696	5164										
SP5	389058	broad.mit.edu	37	chr2	171573092	171573092	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccctcgtacccctacgagttCtcgccggtcaagatgctgcc	9	17	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:171573092C>A	ENST00000375281.3	+	2	537	c.375C>A	c.(373-375)ttC>ttA	p.F125L	AC007405.2_ENST00000409786.1_5'Flank	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	125					bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|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)			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CCTACGAGTTCTCGCCGGTCA	0.726																																						ENST00000375281.3																			0				NS(1)|endometrium(2)|lung(1)|prostate(1)	5						c.(373-375)ttC>ttA		Sp5 transcription factor							11	14	13					2																	171573092		1953	4115	6068	SO:0001583	missense	389058				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:171573092C>A		CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053	ENST00000375281.3:c.375C>A	2.37:g.171573092C>A	ENSP00000364430:p.Phe125Leu		Somatic					p.F125L	NM_001003845.2	NP_001003845.1	WXS	Illumina GAIIx	Phase_I	Q6BEB4	SP5_HUMAN			2	537	+			125						Missense_Mutation	SNP	ENST00000375281.3	37	c.375C>A	CCDS33322.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246998	0.22796	.	.	ENSG00000204335	ENST00000375281	T	0.07216	3.21	4.29	1.4	0.22301	.	0.056624	0.64402	D	0.000001	T	0.03520	0.0101	N	0.21373	0.66	0.46167	D	0.998902	P	0.38767	0.646	B	0.26094	0.066	T	0.52238	-0.8602	10	0.10636	T	0.68	.	8.3754	0.32440	0.0:0.6438:0.0:0.3562	.	125	Q6BEB4	SP5_HUMAN	L	125	ENSP00000364430:F125L	ENSP00000364430:F125L	F	+	3	2	SP5	171281338	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	1.031000	0.30165	0.380000	0.24823	-0.234000	0.12200	TTC		0.726	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333670.1	XM_371581		10	34	1	0	3.86212e-05	1	4.21111e-05	10	34					A	171573092	C	A	171573092	3	1	48	1	0	0	0	0	1	0	0	0	14982	912	32	2	381	2	SP5	2	171573092	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	325056	171573092	71626281	697	5165										
GAD1	2571	broad.mit.edu	37	chr2	171715386	171715386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgccagacagccctcaacgaCgggaaaagctacacaaggta	10	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:171715386C>T	ENST00000358196.3	+	16	2144	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	532			R -> Q (in dbSNP:rs769402). {ECO:0000269|Ref.9}.		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						CCCTCAACGACGGGAAAAGCT	0.453																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(1594-1596)Cgg>Tgg		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						83	85	84					2																	171715386		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.chr2:171715386C>T		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.1594C>T	2.37:g.171715386C>T	ENSP00000350928:p.Arg532Trp		Somatic					p.R532W	NM_000817.2	NP_000808.2	WXS	Illumina GAIIx	Phase_I	Q99259	DCE1_HUMAN			16	2144	+			532		R -> Q (in dbSNP:rs769402).			Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.1594C>T	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504677	0.44558	.	.	ENSG00000128683	ENST00000358196	T	0.17370	2.28	5.63	4.73	0.59995	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.174131	0.50627	D	0.000104	T	0.12092	0.0294	N	0.20845	0.615	0.80722	D	1	D	0.67145	0.996	B	0.40677	0.337	T	0.04870	-1.0921	10	0.40728	T	0.16	-7.3586	14.6086	0.68498	0.3439:0.6561:0.0:0.0	.	532	Q99259	DCE1_HUMAN	W	532	ENSP00000350928:R532W	ENSP00000350928:R532W	R	+	1	2	GAD1	171423632	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.326000	0.33735	1.322000	0.45245	0.655000	0.94253	CGG		0.453	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			11	27	0	0	0	1	0	11	27					T	171715386	C	T	171715386	3	4	48	1	0	0	0	0	1	0	0	0	6187	527	19	1	1693	1	GAD1	2	171715386	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	142294	171715386	71483987	698	5166										
RAPGEF4	11069	broad.mit.edu	37	chr2	173866010	173866010	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagattctgttttaaatgaCtttattatgatgcactgtgt	7	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:173866010C>T	ENST00000397081.3	+	17	1739	c.1596C>T	c.(1594-1596)gaC>gaT	p.D532D	RAPGEF4_ENST00000538974.1_Silent_p.D361D|RAPGEF4_ENST00000409036.1_Silent_p.D532D|RAPGEF4_ENST00000397087.3_Silent_p.D388D|RAPGEF4_ENST00000535187.1_Silent_p.D312D|RAPGEF4_ENST00000264111.6_Silent_p.D531D|RAPGEF4_ENST00000539331.1_Silent_p.D379D|RAPGEF4_ENST00000540783.1_Silent_p.D379D	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	532	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				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)			TTTTAAATGACTTTATTATGA	0.383																																						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.(1591-1593)gaC>gaT		Rap guanine nucleotide exchange factor (GEF) 4							181	157	165					2																	173866010		1821	4081	5902	SO:0001819	synonymous_variant	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173866010C>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.1596C>T	2.37:g.173866010C>T			Somatic				RAPGEF4_ENST00000409036.1_Silent_p.D532D|RAPGEF4_ENST00000540783.1_Silent_p.D379D|RAPGEF4_ENST00000539331.1_Silent_p.D379D|RAPGEF4_ENST00000397087.3_Silent_p.D388D|RAPGEF4_ENST00000538974.1_Silent_p.D361D|RAPGEF4_ENST00000397081.3_Silent_p.D532D|RAPGEF4_ENST00000535187.1_Silent_p.D312D	p.D531D			WXS	Illumina GAIIx	Phase_I	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		17	1780	+			532			N-terminal Ras-GEF.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Silent	SNP	ENST00000397081.3	37	c.1593C>T	CCDS42775.1																																																																																				0.383	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		13	51	0	0	0	1	0	13	51					T	173866010	C	T	173866010	2	4	48	1	0	0	0	0	0	0	0	1	13061	564	20	3		3	RAPGEF4	2	173866010	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2150624	173866010	69333363	699	5167										
OLA1	29789	broad.mit.edu	37	chr2	174987962	174987963	+	Frame_Shift_Ins	INS	-	-	T													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagattaaccaagtagaccaINSttggttttgaagtcaaaaat							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:174987962_174987963insT	ENST00000409546.1	-	7	1363_1364	c.733_734insA	c.(733-735)atgfs	p.M245fs	OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000284719.3_Frame_Shift_Ins_p.M225fs|OLA1_ENST00000344357.5_Frame_Shift_Ins_p.M67fs|OLA1_ENST00000428402.2_Frame_Shift_Ins_p.M225fs					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CAAGTAGACCATTGGTTTTGAA	0.317																																						ENST00000284719.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						c.(673-675)ggtfs		Obg-like ATPase 1																																				SO:0001589	frameshift_variant	29789				ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	g.chr2:174987962_174987963insT		CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"GTP-binding protein 9 (putative)"	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.734dupA	2.37:g.174987964_174987964dupT	ENSP00000386350:p.Met245fs		Somatic				OLA1_ENST00000344357.5_Frame_Shift_Ins_p.G67fs|OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000428402.2_Frame_Shift_Ins_p.G225fs|OLA1_ENST00000409546.1_Frame_Shift_Ins_p.G245fs	p.G225fs	NM_013341.3	NP_037473.3	WXS	Illumina GAIIx	Phase_I	Q9NTK5	OLA1_HUMAN			7	919_920	-			225						Frame_Shift_Ins	INS	ENST00000409546.1	37	c.673_674insA																																																																																					0.317	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333877.1	NM_013341		8	10						8	10	---	---	---	---	T	174987963	-	T	174987962	7	5	48	1	0	1	1	0	0	0	0	0	10859	217	8	0	536	0	OLA1	2	174987962	Frame_Shift_Ins	INS	-	TCGA-ND-A4WC-01A-21D-A28R-08	1121952	174987962	68211411	700	5168										
CIR1	9541	broad.mit.edu	37	chr2	175215392	175215392	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatacttctaaattacctgaGaagtttctgtttttgtttgg	7	5	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175215392G>A	ENST00000342016.3	-	9	765	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	225	Interaction with RP9. {ECO:0000250}.|Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	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)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						AATTACCTGAGAAGTTTCTGT	0.328																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(673-675)Ctc>Ttc		corepressor interacting with RBPJ, 1							63	61	62					2																	175215392		2202	4300	6502	SO:0001583	missense	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175215392G>A	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"recepin", "CBF1 interacting corepressor"	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.673C>T	2.37:g.175215392G>A	ENSP00000339723:p.Leu225Phe		Somatic				CIR1_ENST00000362053.5_3'UTR	p.L225F	NM_004882.3	NP_004873.3	WXS	Illumina GAIIx	Phase_I	Q86X95	CIR1_HUMAN			9	765	-			225			Interaction with RP9 (By similarity).|Lys/Ser-rich.		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	ENST00000342016.3	37	c.673C>T	CCDS2256.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325169	0.60634	.	.	ENSG00000138433	ENST00000342016	.	.	.	5.73	5.73	0.89815	.	0.192513	0.45126	D	0.000393	D	0.83133	0.5188	M	0.77486	2.375	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.83923	0.0302	9	0.62326	D	0.03	.	19.4967	0.95075	0.0:0.0:1.0:0.0	.	225;225	A0PJI7;Q86X95	.;CIR1_HUMAN	F	225	.	ENSP00000339723:L225F	L	-	1	0	CIR1	174923638	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.399000	0.73248	2.688000	0.91661	0.650000	0.86243	CTC		0.328	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		5	16	0	0	0	1	0	5	16					A	175215392	G	A	175215392	3	1	48	1	0	0	0	0	1	0	0	0	3434	942	33	3	687	3	CIR1	2	175215392	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	227430	175215392	67983981	701	5169										
SCRN3	79634	broad.mit.edu	37	chr2	175265748	175265748	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaagagctgatacagctgaAaaagccctcaatgtcattgt	9	8	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175265748A>G	ENST00000272732.6	+	4	454	c.372A>G	c.(370-372)gaA>gaG	p.E124E	SCRN3_ENST00000409673.3_Silent_p.E117E	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	124							dipeptidase activity (GO:0016805)	p.E124D(1)|p.E117D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			ATACAGCTGAAAAAGCCCTCA	0.323																																						ENST00000272732.6																			2	Substitution - Missense(2)	p.E124D(1)|p.E117D(1)	lung(2)	endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13						c.(370-372)gaA>gaG		secernin 3							39	40	40					2																	175265748		2203	4300	6503	SO:0001819	synonymous_variant	79634				proteolysis		dipeptidase activity	g.chr2:175265748A>G	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.372A>G	2.37:g.175265748A>G			Somatic				SCRN3_ENST00000409673.3_Silent_p.E117E	p.E124E	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	WXS	Illumina GAIIx	Phase_I	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		4	454	+			124					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Silent	SNP	ENST00000272732.6	37	c.372A>G	CCDS2258.1																																																																																				0.323	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		17	16	0	0	0	1	0	17	16					G	175265748	A	G	175265748	2	3	48	1	0	0	0	0	0	0	0	1	13955	11	1	4		4	SCRN3	2	175265748	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	50356	175265748	67933625	702	5170										
SCRN3	79634	broad.mit.edu	37	chr2	175289296	175289296	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgaagatctagttaaaaaGaaatcacattttaagcctga	6	6	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175289296G>T	ENST00000272732.6	+	7	1093	c.1011G>T	c.(1009-1011)aaG>aaT	p.K337N	SCRN3_ENST00000548921.1_3'UTR|SCRN3_ENST00000409673.3_Missense_Mutation_p.K330N	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	337							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TAGTTAAAAAGAAATCACATT	0.328																																						ENST00000272732.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13						c.(1009-1011)aaG>aaT		secernin 3							76	73	74					2																	175289296		2203	4298	6501	SO:0001583	missense	79634				proteolysis		dipeptidase activity	g.chr2:175289296G>T	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.1011G>T	2.37:g.175289296G>T	ENSP00000272732:p.Lys337Asn		Somatic				SCRN3_ENST00000409673.3_Missense_Mutation_p.K330N|SCRN3_ENST00000548921.1_3'UTR	p.K337N	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	WXS	Illumina GAIIx	Phase_I	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		7	1093	+			337					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	ENST00000272732.6	37	c.1011G>T	CCDS2258.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368247	0.24771	.	.	ENSG00000144306	ENST00000409673;ENST00000272732	T;T	0.09350	2.99;3.0	4.91	4.03	0.46877	.	0.101905	0.64402	D	0.000003	T	0.18800	0.0451	M	0.76002	2.32	0.39047	D	0.960242	P;P	0.51653	0.947;0.933	P;B	0.49047	0.599;0.441	T	0.03473	-1.1033	10	0.37606	T	0.19	-11.6765	9.1574	0.37000	0.165:0.0:0.835:0.0	.	330;337	B4DI11;Q0VDG4	.;SCRN3_HUMAN	N	330;337	ENSP00000387142:K330N;ENSP00000272732:K337N	ENSP00000272732:K337N	K	+	3	2	SCRN3	174997542	1.000000	0.71417	0.854000	0.33618	0.048000	0.14542	2.856000	0.48341	1.069000	0.40788	0.555000	0.69702	AAG		0.328	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		9	27	1	0	3.09899e-07	1	3.54467e-07	9	27					T	175289296	G	T	175289296	3	4	48	1	0	0	0	0	1	0	0	0	13955	933	33	2	1033	2	SCRN3	2	175289296	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	23548	175289296	67910077	703	5171										
GPR155	151556	broad.mit.edu	37	chr2	175300922	175300922	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttggagagtgtttgcattAatagcaggaggactctgttc	13	5	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175300922A>C	ENST00000392552.2	-	16	2773	c.2535T>G	c.(2533-2535)atT>atG	p.I845M	GPR155_ENST00000392551.2_Missense_Mutation_p.I845M|GPR155_ENST00000295500.4_Missense_Mutation_p.I845M|GPR155_ENST00000459996.1_5'Flank	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	845					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						TGTTTGCATTAATAGCAGGAG	0.423																																						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.(2533-2535)atT>atG		G protein-coupled receptor 155							123	131	128					2																	175300922		2203	4300	6503	SO:0001583	missense	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175300922A>C	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.2535T>G	2.37:g.175300922A>C	ENSP00000376335:p.Ile845Met		Somatic				GPR155_ENST00000392551.2_Missense_Mutation_p.I845M|GPR155_ENST00000295500.4_Missense_Mutation_p.I845M	p.I845M	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	WXS	Illumina GAIIx	Phase_I	Q7Z3F1	GP155_HUMAN			16	2773	-			845					B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	c.2535T>G	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466958	0.26335	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.13901	2.55;2.55;2.55	5.65	0.154	0.14901	Winged helix-turn-helix transcription repressor DNA-binding (1);	1.072670	0.07137	N	0.846611	T	0.06050	0.0157	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40701	-0.9549	10	0.31617	T	0.26	0.8014	2.1998	0.03920	0.5947:0.1319:0.1464:0.1269	.	845	Q7Z3F1	GP155_HUMAN	M	845	ENSP00000376335:I845M;ENSP00000376334:I845M;ENSP00000295500:I845M	ENSP00000295500:I845M	I	-	3	3	GPR155	175009168	0.042000	0.20092	0.000000	0.03702	0.089000	0.18198	1.212000	0.32394	-0.123000	0.11745	-0.313000	0.08912	ATT		0.423	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		6	98	0	0	0	1	0	6	98					C	175300922	A	C	175300922	3	2	48	1	0	0	0	0	1	0	0	0	6668	358	13	4	81	4	GPR155	2	175300922	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	11626	175300922	67898451	704	5172										
GPR155	151556	broad.mit.edu	37	chr2	175306891	175306891	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaatgtttatctaatccaaaGattccaaaggaaataaatcc	4	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175306891G>T	ENST00000392552.2	-	14	2368	c.2130C>A	c.(2128-2130)atC>atA	p.I710I	GPR155_ENST00000392551.2_Silent_p.I710I|GPR155_ENST00000295500.4_Silent_p.I710I|GPR155_ENST00000459996.1_5'UTR	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	710					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						CTAATCCAAAGATTCCAAAGG	0.279																																						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.(2128-2130)atC>atA		G protein-coupled receptor 155							41	48	46					2																	175306891		2190	4291	6481	SO:0001819	synonymous_variant	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175306891G>T	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.2130C>A	2.37:g.175306891G>T			Somatic				GPR155_ENST00000392551.2_Silent_p.I710I|GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000295500.4_Silent_p.I710I	p.I710I	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	WXS	Illumina GAIIx	Phase_I	Q7Z3F1	GP155_HUMAN			14	2368	-			710					B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Silent	SNP	ENST00000392552.2	37	c.2130C>A	CCDS2259.1																																																																																				0.279	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		11	39	1	0	3.07112e-06	1	3.42433e-06	11	39					T	175306891	G	T	175306891	2	4	48	1	0	0	0	0	0	0	0	1	6668	932	33	2		2	GPR155	2	175306891	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5969	175306891	67892482	705	5173										
CHRNA1	1134	broad.mit.edu	37	chr2	175622306	175622306	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgctcacttgttatagagaAcaaggtctgggcgccagatc	11	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175622306A>G	ENST00000261007.5	-	5	473	c.407T>C	c.(406-408)gTt>gCt	p.V136A	CHRNA1_ENST00000409323.1_Missense_Mutation_p.V111A|CHRNA1_ENST00000348749.5_Missense_Mutation_p.V111A|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V111A|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Intron	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	136					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GTTATAGAGAACAAGGTCTGG	0.488																																						ENST00000348749.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(331-333)gTt>gCt		cholinergic receptor, nicotinic, alpha 1 (muscle)							61	61	61					2																	175622306		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175622306A>G	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.407T>C	2.37:g.175622306A>G	ENSP00000261007:p.Val136Ala		Somatic				CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V111A|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V111A|CHRNA1_ENST00000261007.5_Missense_Mutation_p.V136A|AC018890.6_ENST00000442996.1_RNA	p.V111A	NM_000079.3	NP_000070.1	WXS	Illumina GAIIx	Phase_I	P02708	ACHA_HUMAN			4	409	-			136					B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.332T>C	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419709	0.83559	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409219;ENST00000409323	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	6.08	4.92	0.64577	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85133	0.5627	M	0.80332	2.49	0.80722	D	1	P;B;B	0.41008	0.735;0.066;0.047	P;B;B	0.46940	0.532;0.148;0.171	D	0.86160	0.1593	10	0.87932	D	0	.	13.5945	0.61982	0.8703:0.1296:0.0:0.0	.	111;111;136	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	A	111;136;111;111	ENSP00000261008:V111A;ENSP00000261007:V136A;ENSP00000386611:V111A;ENSP00000386684:V111A	ENSP00000261007:V136A	V	-	2	0	CHRNA1	175330552	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	9.241000	0.95402	1.106000	0.41623	0.482000	0.46254	GTT		0.488	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			8	19	0	0	0	1	0	8	19					G	175622306	A	G	175622306	3	3	48	1	0	0	0	0	1	0	0	0	3383	43	2	4	1065	4	CHRNA1	2	175622306	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	315415	175622306	67577067	706	5174										
CHN1	1123	broad.mit.edu	37	chr2	175664856	175664856	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttaaaaatttaaaataaaatGtcttcgtttttgataagcag	5	3	1	1	rs559753925	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175664856G>T	ENST00000409900.3	-	13	1681	c.1368C>A	c.(1366-1368)gaC>gaA	p.D456E	CHN1_ENST00000295497.7_Missense_Mutation_p.D331E|CHN1_ENST00000409597.1_Missense_Mutation_p.D272E|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409156.3_Missense_Mutation_p.D430E	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	456	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)			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)			aaaataaaatGTCTTCGTTTT	0.358			T	TAF15	extraskeletal myxoid chondrosarcoma																																	ENST00000409900.3				Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1366-1368)gaC>gaA		chimerin 1							42	37	39					2																	175664856		1830	4074	5904	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.chr2:175664856G>T		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.1368C>A	2.37:g.175664856G>T	ENSP00000386741:p.Asp456Glu		Somatic				CHN1_ENST00000409597.1_Missense_Mutation_p.D272E|CHN1_ENST00000295497.7_Missense_Mutation_p.D331E|CHN1_ENST00000409156.3_Missense_Mutation_p.D430E|CHN1_ENST00000488080.1_5'UTR	p.D456E	NM_001822.5	NP_001813.1	WXS	Illumina GAIIx	Phase_I	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		13	1681	-			456			Rho-GAP.		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.1368C>A	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407550	0.42715	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.93	4.14	0.48551	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.15349	0.0370	L	0.48986	1.54	0.50313	D	0.999861	P;P;P	0.43578	0.811;0.811;0.562	B;B;B	0.42851	0.271;0.4;0.155	T	0.03175	-1.1064	10	0.26408	T	0.33	.	11.9917	0.53180	0.1394:0.0:0.8606:0.0	.	430;456;331	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	E	456;331;272;430	ENSP00000386741:D456E;ENSP00000295497:D331E;ENSP00000386469:D272E;ENSP00000386470:D430E	ENSP00000295497:D331E	D	-	3	2	CHN1	175373102	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.552000	0.45828	0.846000	0.35142	0.655000	0.94253	GAC		0.358	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		5	14	1	0	0.0215528	1	0.0219788	5	14					T	175664856	G	T	175664856	3	4	48	1	0	0	0	0	1	0	0	0	3364	1368	48	5	15	5	CHN1	2	175664856	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	42550	175664856	67534517	707	5175										
HOXD13	3239	broad.mit.edu	37	chr2	176959355	176959355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggacaagcggcggcgtatctCggctgctacgaacctatctg	13	12	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:176959355C>T	ENST00000392539.3	+	2	929	c.929C>T	c.(928-930)tCg>tTg	p.S310L		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	310					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		CGGCGTATCTCGGCTGCTACG	0.448			T	NUP98	AML*																																	ENST00000392539.3				Dom	yes		2	2q31-q32	3239	T	homeo box D13			L	NUP98		AML*		0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6						c.(928-930)tCg>tTg		homeobox D13							96	88	91					2																	176959355		2203	4300	6503	SO:0001583	missense	3239				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding	g.chr2:176959355C>T	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"Homeoboxes / ANTP class : HOXL subclass"	5136	protein-coding gene	gene with protein product		142989	"homeo box D13"	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.929C>T	2.37:g.176959355C>T	ENSP00000376322:p.Ser310Leu		Somatic					p.S310L	NM_000523.3	NP_000514.2	WXS	Illumina GAIIx	Phase_I	P35453	HXD13_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)	2	929	+			310						Missense_Mutation	SNP	ENST00000392539.3	37	c.929C>T	CCDS2264.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919294	0.92249	.	.	ENSG00000128714	ENST00000392539	D	0.96992	-4.2	4.84	4.84	0.62591	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.56097	D	0.000039	D	0.98153	0.9390	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.98917	1.0782	10	0.87932	D	0	.	18.5076	0.90902	0.0:1.0:0.0:0.0	.	310	P35453	HXD13_HUMAN	L	310	ENSP00000376322:S310L	ENSP00000376322:S310L	S	+	2	0	HOXD13	176667601	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.609000	0.82925	2.687000	0.91594	0.655000	0.94253	TCG		0.448	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1			17	41	0	0	0	1	0	17	41					T	176959355	C	T	176959355	3	4	48	1	0	0	0	0	1	0	0	0	7331	893	31	1	935	1	HOXD13	2	176959355	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1294499	176959355	66240018	708	5176										
PDE11A	50940	broad.mit.edu	37	chr2	178740621	178740621	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcactgcactttggggacatCaattcaaaggatttggtaaa	10	7	2	0	rs369303784		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:178740621C>A	ENST00000286063.6	-	5	1649	c.1332G>T	c.(1330-1332)ttG>ttT	p.L444F	PDE11A_ENST00000358450.4_Missense_Mutation_p.L194F|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Missense_Mutation_p.L86F|PDE11A_ENST00000409504.1_Missense_Mutation_p.L86F|PDE11A_ENST00000389683.3_5'UTR	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	444	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	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)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TTGGGGACATCAATTCAAAGG	0.388									Primary Pigmented Nodular Adrenocortical Disease, Familial																													ENST00000286063.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(1330-1332)ttG>ttT		phosphodiesterase 11A							143	132	136					2																	178740621		2203	4300	6503	SO:0001583	missense	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178740621C>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1332G>T	2.37:g.178740621C>A	ENSP00000286063:p.Leu444Phe		Somatic				PDE11A_ENST00000449286.2_Missense_Mutation_p.L86F|PDE11A_ENST00000389683.3_5'UTR|PDE11A_ENST00000358450.4_Missense_Mutation_p.L194F|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.L86F	p.L444F	NM_016953.3	NP_058649.3	WXS	Illumina GAIIx	Phase_I	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		5	1649	-			444			GAF 2.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.1332G>T	CCDS33334.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.79|15.79	2.937485|2.937485	0.52972|0.52972	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000431253;ENST00000449286|ENST00000433879	T;T;T;T|.	0.68479|.	-0.33;-0.33;-0.33;-0.33|.	6.17|6.17	6.17|6.17	0.99709|0.99709	GAF (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.70228|.	0.3200|.	L|L	0.52206|0.52206	1.635|1.635	0.80722|0.80722	D|D	1|1	P;D|.	0.54397|.	0.717;0.966|.	B;P|.	0.58172|.	0.352;0.834|.	T|.	0.64643|.	-0.6359|.	10|.	0.20046|.	T|.	0.44|.	.|.	17.7962|17.7962	0.88572|0.88572	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	194;444|.	Q9HCR9-2;Q9HCR9|.	.;PDE11_HUMAN|.	F|L	444;194;86;119;86|83	ENSP00000286063:L444F;ENSP00000351232:L194F;ENSP00000386539:L86F;ENSP00000390599:L86F|.	ENSP00000286063:L444F|.	L|X	-|-	3|2	2|2	PDE11A|PDE11A	178448867|178448867	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	3.849000|3.849000	0.55910|0.55910	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TTG|TGA		0.388	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			17	39	1	0	2.4624e-09	1	2.95225e-09	17	39					A	178740621	C	A	178740621	3	1	48	1	0	0	0	0	1	0	0	0	11640	825	29	2	1533	2	PDE11A	2	178740621	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1781266	178740621	64458752	709	5177										
PDE11A	50940	broad.mit.edu	37	chr2	178936534	178936534	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcaaggtcattggagatatCtttgaccaattccagaaaga	9	7	3	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:178936534C>A	ENST00000286063.6	-	1	948	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	211					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	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)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TTGGAGATATCTTTGACCAAT	0.478									Primary Pigmented Nodular Adrenocortical Disease, Familial																													ENST00000286063.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(631-633)Gat>Tat		phosphodiesterase 11A							126	108	114					2																	178936534		2203	4300	6503	SO:0001583	missense	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178936534C>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.631G>T	2.37:g.178936534C>A	ENSP00000286063:p.Asp211Tyr		Somatic				PDE11A_ENST00000358450.4_Intron	p.D211Y	NM_016953.3	NP_058649.3	WXS	Illumina GAIIx	Phase_I	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		1	948	-			211					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.631G>T	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164183	0.78339	.	.	ENSG00000128655	ENST00000286063	T	0.70164	-0.46	5.28	5.28	0.74379	.	0.142764	0.64402	D	0.000009	D	0.83175	0.5197	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	D	0.86173	0.1601	10	0.87932	D	0	.	17.8847	0.88850	0.0:1.0:0.0:0.0	.	211	Q9HCR9	PDE11_HUMAN	Y	211	ENSP00000286063:D211Y	ENSP00000286063:D211Y	D	-	1	0	PDE11A	178644780	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.399000	0.79935	2.473000	0.83533	0.655000	0.94253	GAT		0.478	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			37	70	1	0	7.04047e-22	1	9.7605e-22	37	70					A	178936534	C	A	178936534	3	1	48	1	0	0	0	0	1	0	0	0	11640	913	32	2	2250	2	PDE11A	2	178936534	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	195913	178936534	64262839	710	5178										
OSBPL6	114880	broad.mit.edu	37	chr2	179248854	179248854	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caacccagtccttggggagaCttatgaatgcattagagaag	11	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179248854C>A	ENST00000190611.4	+	18	2340	c.1964C>A	c.(1963-1965)aCt>aAt	p.T655N	OSBPL6_ENST00000409045.3_Missense_Mutation_p.T624N|OSBPL6_ENST00000409631.1_Missense_Mutation_p.T619N|OSBPL6_ENST00000359685.3_Missense_Mutation_p.T619N|OSBPL6_ENST00000315022.2_Missense_Mutation_p.T659N|OSBPL6_ENST00000392505.2_Missense_Mutation_p.T680N	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	655					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CTTGGGGAGACTTATGAATGC	0.453																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1963-1965)aCt>aAt		oxysterol binding protein-like 6							238	237	237					2																	179248854		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179248854C>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1964C>A	2.37:g.179248854C>A	ENSP00000190611:p.Thr655Asn		Somatic				OSBPL6_ENST00000409045.3_Missense_Mutation_p.T624N|OSBPL6_ENST00000359685.3_Missense_Mutation_p.T619N|OSBPL6_ENST00000409631.1_Missense_Mutation_p.T619N|OSBPL6_ENST00000392505.2_Missense_Mutation_p.T680N|OSBPL6_ENST00000315022.2_Missense_Mutation_p.T659N	p.T655N	NM_032523.3	NP_115912.1	WXS	Illumina GAIIx	Phase_I	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		18	2340	+			655					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.1964C>A	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597232	0.87055	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.91	5.91	0.95273	.	0.044013	0.85682	D	0.000000	T	0.79753	0.4500	H	0.98133	4.155	0.80722	D	1	D;D;D;D;D	0.89917	0.985;0.99;1.0;0.971;0.995	P;D;D;P;P	0.87578	0.84;0.969;0.998;0.713;0.89	D	0.86589	0.1859	10	0.87932	D	0	-18.8122	20.2985	0.98592	0.0:1.0:0.0:0.0	.	624;659;619;680;655	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	N	680;619;624;655;619;659	ENSP00000376293:T680N;ENSP00000352713:T619N;ENSP00000387248:T624N;ENSP00000190611:T655N;ENSP00000386885:T619N;ENSP00000318723:T659N	ENSP00000190611:T655N	T	+	2	0	OSBPL6	178957100	1.000000	0.71417	0.996000	0.52242	0.905000	0.53344	6.056000	0.71111	2.793000	0.96121	0.655000	0.94253	ACT		0.453	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		98	215	1	0	1.35424e-50	1	1.96665e-50	98	215					A	179248854	C	A	179248854	3	1	48	1	0	0	0	0	1	0	0	0	11290	565	20	5	2148	5	OSBPL6	2	179248854	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	312320	179248854	63950519	711	5179										
OSBPL6	114880	broad.mit.edu	37	chr2	179253834	179253834	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttatggagaagtaaccatcaGaaataccaaaagcagtgttt	8	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179253834G>T	ENST00000190611.4	+	21	2631	c.2255G>T	c.(2254-2256)aGa>aTa	p.R752I	OSBPL6_ENST00000409045.3_Missense_Mutation_p.R721I|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R716I|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R716I|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R756I|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R777I	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	752					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTAACCATCAGAAATACCAAA	0.353																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2254-2256)aGa>aTa		oxysterol binding protein-like 6							128	110	116					2																	179253834		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179253834G>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2255G>T	2.37:g.179253834G>T	ENSP00000190611:p.Arg752Ile		Somatic				OSBPL6_ENST00000409045.3_Missense_Mutation_p.R721I|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R716I|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R716I|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R777I|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R756I	p.R752I	NM_032523.3	NP_115912.1	WXS	Illumina GAIIx	Phase_I	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		21	2631	+			752					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.2255G>T	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149176	0.78001	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.50326	0.1609	L	0.43646	1.37	0.80722	D	1	D;P;B;D;P	0.89917	0.957;0.631;0.009;1.0;0.93	P;P;B;D;P	0.87578	0.852;0.6;0.078;0.998;0.672	T	0.25641	-1.0126	10	0.37606	T	0.19	-19.9971	20.0965	0.97849	0.0:0.0:1.0:0.0	.	721;756;716;777;752	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	I	777;716;721;752;716;756	ENSP00000376293:R777I;ENSP00000352713:R716I;ENSP00000387248:R721I;ENSP00000190611:R752I;ENSP00000386885:R716I;ENSP00000318723:R756I	ENSP00000190611:R752I	R	+	2	0	OSBPL6	178962080	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.667000	0.68067	2.824000	0.97209	0.655000	0.94253	AGA		0.353	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		19	31	1	0	1.33834e-09	1	1.61283e-09	19	31					T	179253834	G	T	179253834	3	4	48	1	0	0	0	0	1	0	0	0	11290	942	33	2	2451	2	OSBPL6	2	179253834	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4980	179253834	63945539	712	5180										
PRKRA	8575	broad.mit.edu	37	chr2	179306381	179306381	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatattactaaatttggcaaGaaatttctcagcagcattcc	5	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179306381G>T	ENST00000325748.4	-	6	765	c.565C>A	c.(565-567)Ctt>Att	p.L189I	PRKRA_ENST00000487082.1_Missense_Mutation_p.L164I|PRKRA_ENST00000438687.3_Missense_Mutation_p.L76I|AC009948.5_ENST00000453026.2_RNA|PRKRA_ENST00000432031.2_Missense_Mutation_p.L178I	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	189	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Sufficient for self-association and interaction with TARBP2.				cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			AATTTGGCAAGAAATTTCTCA	0.348																																					Melanoma(200;68 3001 23825 48764)	ENST00000325748.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(565-567)Ctt>Att		protein kinase, interferon-inducible double stranded RNA dependent activator							95	104	101					2																	179306381		2202	4300	6502	SO:0001583	missense	8575				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity	g.chr2:179306381G>T	AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"protein activator of the interferon-induced protein kinase"	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.565C>A	2.37:g.179306381G>T	ENSP00000318176:p.Leu189Ile		Somatic				PRKRA_ENST00000438687.3_Missense_Mutation_p.L76I|PRKRA_ENST00000432031.2_Missense_Mutation_p.L178I|PRKRA_ENST00000487082.1_Missense_Mutation_p.L164I	p.L189I	NM_003690.4	NP_003681.1	WXS	Illumina GAIIx	Phase_I	O75569	PRKRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)		6	765	-			189			DRBM 2.|Sufficient for self-association and interaction with TARBP2.		A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Missense_Mutation	SNP	ENST00000325748.4	37	c.565C>A	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831574	0.71258	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93	5.7	5.7	0.88788	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.148239	0.46442	D	0.000292	D	0.89556	0.6749	L	0.59436	1.845	0.36318	D	0.858091	D;D	0.60575	0.988;0.969	P;P	0.59761	0.863;0.828	D	0.91401	0.5143	10	0.49607	T	0.09	.	16.7405	0.85458	0.0:0.0:1.0:0.0	.	189;178	O75569;O75569-2	PRKRA_HUMAN;.	I	189;76;164;178	ENSP00000318176:L189I;ENSP00000398980:L76I;ENSP00000430604:L164I;ENSP00000393883:L178I	ENSP00000318176:L189I	L	-	1	0	PRKRA	179014627	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.709000	0.54853	2.688000	0.91661	0.591000	0.81541	CTT		0.348	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255782.2	NM_003690		8	70	1	0	0.000157383	1	0.000169016	8	70					T	179306381	G	T	179306381	3	4	48	1	0	0	0	0	1	0	0	0	12536	942	33	2	388	2	PRKRA	2	179306381	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	52547	179306381	63892992	713	5181										
TTN	7273	broad.mit.edu	37	chr2	179399554	179399554	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccaatattatgactgtgtaAaaactgaagtgcttcacaga	7	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179399554A>C	ENST00000591111.1	-	308	97089	c.96865T>G	c.(96865-96867)Tta>Gta	p.L32289V	TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L33930V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L25057V|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L24990V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L24865V|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L31362V|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32289	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACTGTGTAAAAACTGAAGT	0.343																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(101788-101790)Tta>Gta		titin							70	71	71					2																	179399554		1853	4099	5952	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399554A>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.96865T>G	2.37:g.179399554A>C	ENSP00000465570:p.Leu32289Val		Somatic				TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L25057V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L24990V|TTN_ENST00000342992.6_Missense_Mutation_p.L31362V|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L24865V|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L32289V|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589391.1_RNA	p.L33930V	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	102012	-			32289					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.101788T>G		.	.	.	.	.	.	.	.	.	.	A	11.98	1.802029	0.31869	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	6.02	3.71	0.42584	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.63721	0.2535	M	0.66378	2.025	0.46279	D	0.998967	P;P;P;D	0.56035	0.949;0.949;0.949;0.974	P;P;P;P	0.54174	0.609;0.609;0.609;0.744	T	0.67102	-0.5755	9	0.87932	D	0	.	8.1164	0.30946	0.7671:0.0:0.2329:0.0	.	24865;24990;25057;32289	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	31362;24865;25057;24990;24862	ENSP00000343764:L31362V;ENSP00000434586:L24865V;ENSP00000340554:L25057V;ENSP00000352154:L24990V	ENSP00000340554:L25057V	L	-	1	2	TTN	179107800	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.310000	0.33551	2.304000	0.77564	0.528000	0.53228	TTA		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	40	0	0	0	1	0	16	40					C	179399554	A	C	179399554	3	2	48	1	0	0	0	0	1	0	0	0	16750	11	1	4	6211	4	TTN	2	179399554	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	93173	179399554	63799819	714	5182										
TTN	7273	broad.mit.edu	37	chr2	179407401	179407401	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atccttaccaagaatgataaCtttaatggtttctgaagtag	7	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179407401C>A	ENST00000591111.1	-	298	92481	c.92257G>T	c.(92257-92259)Gtt>Ttt	p.V30753F	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V32394F|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23521F|TTN-AS1_ENST00000586831.1_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.V23454F|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23329F|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V29826F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30753	Ig-like 138.				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)			AGAATGATAACTTTAATGGTT	0.338																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(97180-97182)Gtt>Ttt		titin							212	209	210					2																	179407401		1858	4098	5956	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179407401C>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.92257G>T	2.37:g.179407401C>A	ENSP00000465570:p.Val30753Phe		Somatic				TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23521F|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V23454F|TTN_ENST00000342992.6_Missense_Mutation_p.V29826F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23329F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V30753F	p.V32394F	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)		348	97404	-			30753			Protein kinase.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.97180G>T		.	.	.	.	.	.	.	.	.	.	C	15.60	2.882306	0.51908	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.55	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70263	0.3204	M	0.90814	3.15	0.52099	D	0.999944	P;P;P;P	0.51147	0.942;0.942;0.942;0.942	P;P;P;P	0.57720	0.826;0.771;0.826;0.771	T	0.77902	-0.2414	9	0.87932	D	0	.	14.3956	0.67007	0.0:0.9292:0.0:0.0708	.	23329;23454;23521;30753	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	29826;23329;23521;23454;23326	ENSP00000343764:V29826F;ENSP00000434586:V23329F;ENSP00000340554:V23521F;ENSP00000352154:V23454F	ENSP00000340554:V23521F	V	-	1	0	TTN	179115647	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.985000	0.63845	1.352000	0.45808	0.655000	0.94253	GTT		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		46	94	1	0	3.7052e-28	1	5.25987e-28	46	94					A	179407401	C	A	179407401	3	1	48	1	0	0	0	0	1	0	0	0	16750	565	20	5	10859	5	TTN	2	179407401	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	7847	179407401	63791972	715	5183										
TTN	7273	broad.mit.edu	37	chr2	179441428	179441428	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcacccatcgcaggcttttCttttctctcctttctacatg	4	15	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179441428C>A	ENST00000591111.1	-	275	64844	c.64620G>T	c.(64618-64620)aaG>aaT	p.K21540N	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K23181N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K14308N|TTN-AS1_ENST00000586831.1_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.K14241N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K14116N|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K20613N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21540	Fibronectin type-III 56. {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)			GCAGGCTTTTCTTTTCTCTCC	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(69541-69543)aaG>aaT		titin							214	205	208					2																	179441428		1917	4142	6059	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179441428C>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.64620G>T	2.37:g.179441428C>A	ENSP00000465570:p.Lys21540Asn		Somatic				TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K14308N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K14241N|TTN_ENST00000342992.6_Missense_Mutation_p.K20613N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K14116N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K21540N	p.K23181N	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)		325	69767	-			21540			Fibronectin type-III 68.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.69543G>T		.	.	.	.	.	.	.	.	.	.	C	11.43	1.637029	0.29157	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.72	4.84	0.62591	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68568	0.3015	M	0.65320	2	0.51482	D	0.999926	D;D;D;P	0.54772	0.968;0.968;0.968;0.942	P;P;P;P	0.54629	0.757;0.757;0.757;0.679	T	0.73600	-0.3931	9	0.87932	D	0	.	16.6288	0.85011	0.1308:0.8692:0.0:0.0	.	14116;14241;14308;21540	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	20613;14116;14308;14241;14114	ENSP00000343764:K20613N;ENSP00000434586:K14116N;ENSP00000340554:K14308N;ENSP00000352154:K14241N	ENSP00000340554:K14308N	K	-	3	2	TTN	179149674	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.675000	0.61619	1.535000	0.49220	0.655000	0.94253	AAG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		59	100	1	0	2.3441e-25	1	3.30017e-25	59	100					A	179441428	C	A	179441428	3	1	48	1	0	0	0	0	1	0	0	0	16750	912	32	2	38588	2	TTN	2	179441428	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	34027	179441428	63757945	716	5184										
TTN	7273	broad.mit.edu	37	chr2	179444820	179444820	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcactgtagaccaggatttCctctctgcatcacgtttttg	8	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179444820C>T	ENST00000591111.1	-	268	62495	c.62271G>A	c.(62269-62271)agG>agA	p.R20757R	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.R22398R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.R13525R|TTN-AS1_ENST00000586831.1_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_Silent_p.R13458R|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.R13333R|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.R19830R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20757	Fibronectin type-III 50. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAGGATTTCCTCTCTGCAT	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.(67192-67194)agG>agA		titin							188	180	183					2																	179444820		1900	4130	6030	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179444820C>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.62271G>A	2.37:g.179444820C>T			Somatic				RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.R13525R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.R13458R|TTN_ENST00000342992.6_Silent_p.R19830R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.R13333R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Silent_p.R20757R	p.R22398R	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)		318	67418	-			20757			Ig-like 116.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.67194G>A																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	50	0	0	0	1	0	28	50					T	179444820	C	T	179444820	2	4	48	1	0	0	0	0	0	0	0	1	16750	854	30	3		3	TTN	2	179444820	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3392	179444820	63754553	717	5185										
TTN	7273	broad.mit.edu	37	chr2	179457181	179457181	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaagaataaattccaccatCttcatgggcagcattacgaa	6	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179457181C>T	ENST00000591111.1	-	251	54852	c.54628G>A	c.(54628-54630)Gat>Aat	p.D18210N	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D19851N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10978N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10911N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10786N|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D17283N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18210	Ig-like 105.				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)			ATTCCACCATCTTCATGGGCA	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.(59551-59553)Gat>Aat		titin							215	201	205					2																	179457181		1872	4107	5979	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179457181C>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.54628G>A	2.37:g.179457181C>T	ENSP00000465570:p.Asp18210Asn		Somatic				TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10978N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10911N|TTN_ENST00000342992.6_Missense_Mutation_p.D17283N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10786N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D18210N	p.D19851N	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)		301	59775	-			18210			Ig-like 110.		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.59551G>A		.	.	.	.	.	.	.	.	.	.	C	15.58	2.877087	0.51801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	6.03	6.03	0.97812	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	0.92267	0.7547	M	0.90814	3.15	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	0.92669	0.6148	9	0.87932	D	0	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	10786;10911;10978;18210	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	17283;10786;10978;10911;10784	ENSP00000343764:D17283N;ENSP00000434586:D10786N;ENSP00000340554:D10978N;ENSP00000352154:D10911N	ENSP00000340554:D10978N	D	-	1	0	TTN	179165427	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.770000	0.85390	2.868000	0.98415	0.557000	0.71058	GAT		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		41	91	0	0	0	1	0	41	91					T	179457181	C	T	179457181	3	4	48	1	0	0	0	0	1	0	0	0	16750	913	32	3	48676	3	TTN	2	179457181	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	12361	179457181	63742192	718	5186										
TTN	7273	broad.mit.edu	37	chr2	179464378	179464378	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcctgcgagactgcggaatAactaaagtgcaagtatcatc	9	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179464378A>G	ENST00000591111.1	-	239	51551	c.51327T>C	c.(51325-51327)gtT>gtC	p.V17109V	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.V18750V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Silent_p.V9877V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.V9810V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.V9685V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.V16182V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17109	Ig-like 102.				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)			ACTGCGGAATAACTAAAGTGC	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.(56248-56250)gtT>gtC		titin							219	208	212					2																	179464378		1927	4128	6055	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179464378A>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.51327T>C	2.37:g.179464378A>G			Somatic				TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.V9877V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.V9810V|TTN_ENST00000342992.6_Silent_p.V16182V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.V9685V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Silent_p.V17109V	p.V18750V	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)		289	56474	-			17109			Fibronectin type-III 36.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.56250T>C																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		50	89	0	0	0	1	0	50	89					G	179464378	A	G	179464378	2	3	48	1	0	0	0	0	0	0	0	1	16750	349	13	4		4	TTN	2	179464378	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	7197	179464378	63734995	719	5187										
TTN	7273	broad.mit.edu	37	chr2	179466399	179466399	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttacccatgactttaactCtgcaatttgcagtcttttgt	5	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179466399C>T	ENST00000591111.1	-	236	50719	c.50495G>A	c.(50494-50496)aGa>aAa	p.R16832K	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18473K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9600K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9533K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9408K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15905K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16832	Ig-like 101.				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)			GACTTTAACTCTGCAATTTGC	0.333																																						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.(55417-55419)aGa>aAa		titin							145	132	136					2																	179466399		1852	4091	5943	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179466399C>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.50495G>A	2.37:g.179466399C>T	ENSP00000465570:p.Arg16832Lys		Somatic				TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9600K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9533K|TTN_ENST00000342992.6_Missense_Mutation_p.R15905K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9408K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16832K	p.R18473K	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)		286	55642	-			16832			Ig-like 106.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.55418G>A		.	.	.	.	.	.	.	.	.	.	C	15.65	2.895250	0.52121	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.74	5.74	0.90152	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70500	0.3231	N	0.21373	0.66	0.51767	D	0.99993	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.79108	0.992;0.992;0.992;0.992	T	0.73962	-0.3817	9	0.87932	D	0	.	19.9076	0.97013	0.0:1.0:0.0:0.0	.	9408;9533;9600;16832	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	15905;9408;9600;9533;9408	ENSP00000343764:R15905K;ENSP00000434586:R9408K;ENSP00000340554:R9600K;ENSP00000352154:R9533K	ENSP00000340554:R9600K	R	-	2	0	TTN	179174644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.374000	0.79633	2.699000	0.92147	0.563000	0.77884	AGA		0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	46	0	0	0	1	0	19	46					T	179466399	C	T	179466399	3	4	48	1	0	0	0	0	1	0	0	0	16750	913	32	3	52583	3	TTN	2	179466399	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2021	179466399	63732974	720	5188										
TTN	7273	broad.mit.edu	37	chr2	179471898	179471898	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtctctattggttgtctccAagtatgcatcttggcatctt	8	9	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179471898A>G	ENST00000591111.1	-	228	48732	c.48508T>C	c.(48508-48510)Tgg>Cgg	p.W16170R	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W17811R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W8938R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W8871R|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W8746R|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W15243R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16170	Fibronectin type-III 17. {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)			GGTTGTCTCCAAGTATGCATC	0.393																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(53431-53433)Tgg>Cgg		titin							236	223	227					2																	179471898		1879	4133	6012	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179471898A>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.48508T>C	2.37:g.179471898A>G	ENSP00000465570:p.Trp16170Arg		Somatic				TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W8938R|TTN_ENST00000359218.5_Missense_Mutation_p.W8871R|TTN_ENST00000342992.6_Missense_Mutation_p.W15243R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W8746R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W16170R	p.W17811R	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)		278	53655	-			16170			Ig-like 104.		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.53431T>C		.	.	.	.	.	.	.	.	.	.	A	11.82	1.753271	0.31046	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.84	5.84	0.93424	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79299	0.4422	M	0.92317	3.295	0.52501	D	0.999959	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.979;0.979;0.979;0.989	D	0.84662	0.0707	9	0.87932	D	0	.	16.2302	0.82332	1.0:0.0:0.0:0.0	.	8746;8871;8938;16170	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	15243;8746;8938;8871;8746	ENSP00000343764:W15243R;ENSP00000434586:W8746R;ENSP00000340554:W8938R;ENSP00000352154:W8871R	ENSP00000340554:W8938R	W	-	1	0	TTN	179180143	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.281000	0.95811	2.228000	0.72767	0.533000	0.62120	TGG		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	115	0	0	0	1	0	4	115					G	179471898	A	G	179471898	3	3	48	1	0	0	0	0	1	0	0	0	16750	130	5	4	54602	4	TTN	2	179471898	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	5499	179471898	63727475	721	5189										
TTN	7273	broad.mit.edu	37	chr2	179478500	179478500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtatgttgtgtcctttactgGcatcttattgcatctaaccc	7	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179478500G>A	ENST00000591111.1	-	213	44811	c.44587C>T	c.(44587-44589)Cca>Tca	p.P14863S	TTN_ENST00000589042.1_Missense_Mutation_p.P16504S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7631S|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P7564S|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P7439S|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P13936S|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14863	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTTACTGGCATCTTATTG	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(49510-49512)Cca>Tca		titin							163	168	167					2																	179478500		1935	4129	6064	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179478500G>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.44587C>T	2.37:g.179478500G>A	ENSP00000465570:p.Pro14863Ser		Somatic				TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7631S|TTN_ENST00000359218.5_Missense_Mutation_p.P7564S|TTN_ENST00000342992.6_Missense_Mutation_p.P13936S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P7439S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P14863S	p.P16504S	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)		263	49734	-			14863			Fibronectin type-III 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	Missense_Mutation	SNP	ENST00000591111.1	37	c.49510C>T		.	.	.	.	.	.	.	.	.	.	G	19.77	3.889247	0.72524	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.07	6.07	0.98685	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73644	0.3613	M	0.68317	2.08	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	0.73531	-0.3953	9	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	7439;7564;7631;14863	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	13936;7439;7631;7564;7439	ENSP00000343764:P13936S;ENSP00000434586:P7439S;ENSP00000340554:P7631S;ENSP00000352154:P7564S	ENSP00000340554:P7631S	P	-	1	0	TTN	179186745	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	CCA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	81	0	0	0	1	0	36	81					A	179478500	G	A	179478500	3	1	48	1	0	0	0	0	1	0	0	0	16750	1203	42	3	58583	3	TTN	2	179478500	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	6602	179478500	63720873	722	5190										
TTN	7273	broad.mit.edu	37	chr2	179498763	179498763	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaagttgctgtttcaccttCttttactgtttgatcttcaa	5	8	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179498763C>A	ENST00000591111.1	-	181	37764	c.37540G>T	c.(37540-37542)Gaa>Taa	p.E12514*	TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E14155*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E5282*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E5215*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E5090*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E11587*|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12514	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)			GTTTCACCTTCTTTTACTGTT	0.358																																						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.(42463-42465)Gaa>Taa		titin							134	126	129					2																	179498763		1867	4096	5963	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179498763C>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.37540G>T	2.37:g.179498763C>A	ENSP00000465570:p.Glu12514*		Somatic				TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E5282*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E5215*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E11587*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E5090*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E12514*	p.E14155*	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	42687	-			12514			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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.42463G>T		.	.	.	.	.	.	.	.	.	.	C	57	28.048234	0.99972	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3697	0.98890	0.0:1.0:0.0:0.0	.	.	.	.	X	11587;5090;5282;5215;5090	.	ENSP00000340554:E5282X	E	-	1	0	TTN	179207008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.767000	0.85331	2.811000	0.96726	0.655000	0.94253	GAA		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	58	1	0	3.01185e-09	1	3.60563e-09	27	58					A	179498763	C	A	179498763	4	1	48	1	0	0	0	0	0	1	0	0	16750	922	32	2	65758	2	TTN	2	179498763	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	20263	179498763	63700610	723	5191										
TTN	7273	broad.mit.edu	37	chr2	179517234	179517234	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaggagccgctggcactttCttttcaggaacaacttcttt	10	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179517234C>A	ENST00000591111.1	-	157	34781	c.34557G>T	c.(34555-34557)aaG>aaT	p.K11519N	TTN_ENST00000589042.1_Missense_Mutation_p.K13026N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K10592N			Q8WZ42	TITIN_HUMAN	titin	11491	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)			CTGGCACTTTCTTTTCAGGAA	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(39076-39078)aaG>aaT		titin							89	98	95					2																	179517234		1813	4067	5880	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179517234C>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.34557G>T	2.37:g.179517234C>A	ENSP00000465570:p.Lys11519Asn		Somatic				TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K10592N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K11519N	p.K13026N	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)		202	39302	-			11380			Ig-like 86.		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.39078G>T		.	.	.	.	.	.	.	.	.	.	C	13.24	2.178100	0.38511	.	.	ENSG00000155657	ENST00000342992	D	0.81499	-1.5	5.22	5.22	0.72569	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.78799	0.4340	M	0.76170	2.325	0.80722	D	1	B	0.23058	0.079	B	0.19391	0.025	T	0.77940	-0.2399	9	0.87932	D	0	.	9.4856	0.38928	0.0:0.7799:0.144:0.0761	.	11519	Q8WZ42	TITIN_HUMAN	N	10592	ENSP00000343764:K10592N	ENSP00000343764:K10592N	K	-	3	2	TTN	179225479	0.119000	0.22226	1.000000	0.80357	0.905000	0.53344	0.393000	0.20817	2.457000	0.83068	0.644000	0.83932	AAG		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		49	103	1	0	4.86159e-25	1	6.8376e-25	49	103					A	179517234	C	A	179517234	3	1	48	1	0	0	0	0	1	0	0	0	16750	912	32	2	68837	2	TTN	2	179517234	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	18471	179517234	63682139	724	5192										
TTN	7273	broad.mit.edu	37	chr2	179542573	179542573	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcctcttcaggaacaatttCttcttcaaatagaacttcct	3	11	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179542573C>A	ENST00000591111.1	-	144	33339	c.33115G>T	c.(33115-33117)Gaa>Taa	p.E11039*	TTN_ENST00000589042.1_Nonsense_Mutation_p.E11356*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E10112*			Q8WZ42	TITIN_HUMAN	titin	10179	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)	p.E10112*(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)			GGAACAATTTCTTCTTCAAAT	0.408																																						ENST00000589042.1																			1	Substitution - Nonsense(1)	p.E10112*(1)	large_intestine(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.(34066-34068)Gaa>Taa		titin							88	87	87					2																	179542573		1838	4083	5921	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542573C>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.33115G>T	2.37:g.179542573C>A	ENSP00000465570:p.Glu11039*		Somatic				TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.E10112*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E11039*	p.E11356*	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)		146	34290	-			11039			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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.34066G>T		.	.	.	.	.	.	.	.	.	.	C	60	47.406482	0.99987	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.9098	0.19020	0.141:0.648:0.1364:0.0746	.	.	.	.	X	10112	.	ENSP00000343764:E10112X	E	-	1	0	TTN	179250818	0.074000	0.21230	1.000000	0.80357	0.390000	0.30446	0.500000	0.22562	2.878000	0.98634	0.650000	0.86243	GAA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	60	1	0	2.09667e-21	1	2.89385e-21	36	60					A	179542573	C	A	179542573	4	1	48	1	0	0	0	0	0	1	0	0	16750	922	32	2	70331	2	TTN	2	179542573	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	25339	179542573	63656800	725	5193										
TTN	7273	broad.mit.edu	37	chr2	179565931	179565931	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcaaccacaggagggatttCtgaagaaaataaatgccgtt	10	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179565931C>T	ENST00000591111.1	-	109	29872		c.e109-1		TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Splice_Site			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)			GGAGGGATTTCTGAAGAAAAT	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.e111-1		titin							151	151	151					2																	179565931		1816	4084	5900	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179565931C>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.29648-1G>A	2.37:g.179565931C>T			Somatic				TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_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)		111	30823	-								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	18.79	3.699841	0.68501	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.584	0.76468	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179274176	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.795000	0.55499	2.741000	0.93983	0.655000	0.94253	.		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	30	61	0	0	0	1	0	30	61					T	179565931	C	T	179565931	5	4	48	1	0	0	0	0	0	0	1	0	16750	927	32	3	73939	3	TTN	2	179565931	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	23358	179565931	63633442	726	5194										
TTN	7273	broad.mit.edu	37	chr2	179568878	179568878	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atagtgtttcacgcaccttcGattctgagttctgctgaagt	9	9	3	2	rs369709449		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179568878G>A	ENST00000591111.1	-	104	29492	c.29268C>T	c.(29266-29268)atC>atT	p.I9756I	TTN_ENST00000589042.1_Silent_p.I10073I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.I8829I			Q8WZ42	TITIN_HUMAN	titin	13834					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGCACCTTCGATTCTGAGTT	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(30217-30219)atC>atT		titin							230	216	220					2																	179568878		1961	4151	6112	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179568878G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.29268C>T	2.37:g.179568878G>A			Somatic				TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.I8829I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.I9756I	p.I10073I	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)		106	30443	-			9756			Glu-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.30219C>T																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	117	0	0	0	1	0	6	117					A	179568878	G	A	179568878	2	1	48	1	0	0	0	0	0	0	0	1	16750	1048	37	1		1	TTN	2	179568878	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2947	179568878	63630495	727	5195										
TTN	7273	broad.mit.edu	37	chr2	179571456	179571456	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaacttttgcaatgaaggtCgcagtggtttctaaggaata	10	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179571456C>T	ENST00000591111.1	-	100	28418	c.28194G>A	c.(28192-28194)gcG>gcA	p.A9398A	TTN_ENST00000589042.1_Silent_p.A9715A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.A8471A			Q8WZ42	TITIN_HUMAN	titin	13496	Ig-like 77.				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)			CAATGAAGGTCGCAGTGGTTT	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.(29143-29145)gcG>gcA		titin							100	93	95					2																	179571456		1826	4073	5899	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179571456C>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.28194G>A	2.37:g.179571456C>T			Somatic				TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.A8471A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.A9398A	p.A9715A	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)		102	29369	-			9398			Ig-like 78.		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.29145G>A																																																																																					0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	34	0	0	0	1	0	23	34					T	179571456	C	T	179571456	2	4	48	1	0	0	0	0	0	0	0	1	16750	871	31	1		1	TTN	2	179571456	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2578	179571456	63627917	728	5196										
TTN	7273	broad.mit.edu	37	chr2	179584511	179584511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actctaatgcaaaaggatttCcagtagtgacagtcatgggt	10	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179584511C>T	ENST00000591111.1	-	80	22981	c.22757G>A	c.(22756-22758)gGa>gAa	p.G7586E	TTN_ENST00000589042.1_Missense_Mutation_p.G7903E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6659E			Q8WZ42	TITIN_HUMAN	titin	13137	Ig-like 58.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAAGGATTTCCAGTAGTGAC	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.(23707-23709)gGa>gAa		titin							118	105	109					2																	179584511		1871	4102	5973	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584511C>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.22757G>A	2.37:g.179584511C>T	ENSP00000465570:p.Gly7586Glu		Somatic				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6659E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G7586E	p.G7903E	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)		82	23932	-			7586			Ig-like 61.		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.23708G>A		.	.	.	.	.	.	.	.	.	.	C	15.25	2.779201	0.49891	.	.	ENSG00000155657	ENST00000342992	T	0.80653	-1.4	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93115	0.7808	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.93889	0.7178	9	0.87932	D	0	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	7586	Q8WZ42	TITIN_HUMAN	E	6659	ENSP00000343764:G6659E	ENSP00000343764:G6659E	G	-	2	0	TTN	179292756	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.859000	0.62954	2.894000	0.99253	0.655000	0.94253	GGA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	18	0	0	0	1	0	10	18					T	179584511	C	T	179584511	3	4	48	1	0	0	0	0	1	0	0	0	16750	855	30	3	80945	3	TTN	2	179584511	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	13055	179584511	63614862	729	5197										
TTN	7273	broad.mit.edu	37	chr2	179585127	179585127	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaacctttgaacttgacagAgcaagaacacgtgtcacttc	7	11	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179585127A>G	ENST00000591111.1	-	78	22635	c.22411T>C	c.(22411-22413)Tct>Cct	p.S7471P	TTN_ENST00000589042.1_Missense_Mutation_p.S7788P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6544P			Q8WZ42	TITIN_HUMAN	titin	13026	Ig-like 56.				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)			AACTTGACAGAGCAAGAACAC	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.(23362-23364)Tct>Cct		titin							141	134	136					2																	179585127		1904	4123	6027	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179585127A>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.22411T>C	2.37:g.179585127A>G	ENSP00000465570:p.Ser7471Pro		Somatic				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6544P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7471P	p.S7788P	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)		80	23586	-			7471			Ig-like 60.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.23362T>C		.	.	.	.	.	.	.	.	.	.	A	8.131	0.782984	0.16189	.	.	ENSG00000155657	ENST00000342992	T	0.69306	-0.39	5.91	0.489	0.16854	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52403	0.1732	L	0.49256	1.55	0.32534	N	0.534579	B	0.02656	0.0	B	0.04013	0.001	T	0.55062	-0.8199	9	0.87932	D	0	.	0.3813	0.00395	0.3495:0.1947:0.1268:0.329	.	7471	Q8WZ42	TITIN_HUMAN	P	6544	ENSP00000343764:S6544P	ENSP00000343764:S6544P	S	-	1	0	TTN	179293372	0.045000	0.20229	0.977000	0.42913	0.979000	0.70002	-0.218000	0.09240	0.121000	0.18284	-0.347000	0.07816	TCT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	53	0	0	0	1	0	19	53					G	179585127	A	G	179585127	3	3	48	1	0	0	0	0	1	0	0	0	16750	304	11	4	81299	4	TTN	2	179585127	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	616	179585127	63614246	730	5198										
TTN	7273	broad.mit.edu	37	chr2	179588843	179588843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caccagtatttttcagtcttCgtgtgaaagagggaggaact	11	7	2	2	rs148072021		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179588843C>T	ENST00000591111.1	-	71	20416	c.20192G>A	c.(20191-20193)cGa>cAa	p.R6731Q	TTN_ENST00000589042.1_Missense_Mutation_p.R7048Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R5804Q			Q8WZ42	TITIN_HUMAN	titin	12356	Ig-like 49.				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.R5804L(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)			TTTCAGTCTTCGTGTGAAAGA	0.418													C|||	1	0.000199681	8e-04	0	5008	,	,		22283	0		0	False		,,,				2504	0					ENST00000589042.1																			1	Substitution - Missense(1)	p.R5804L(1)	lung(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.(21142-21144)cGa>cAa		titin							57	53	54					2																	179588843		1879	4111	5990	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588843C>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.20192G>A	2.37:g.179588843C>T	ENSP00000465570:p.Arg6731Gln		Somatic				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R5804Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R6731Q	p.R7048Q	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)		73	21367	-			6731			Ig-like 52.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.21143G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	17.32	3.360186	0.61403	.	.	ENSG00000155657	ENST00000342992	T	0.64260	-0.09	6.02	6.02	0.97574	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66356	0.2781	L	0.41492	1.28	0.80722	D	1	D	0.69078	0.997	P	0.55545	0.778	T	0.68243	-0.5460	9	0.87932	D	0	.	13.7	0.62602	0.0:0.93:0.0:0.07	.	6731	Q8WZ42	TITIN_HUMAN	Q	5804	ENSP00000343764:R5804Q	ENSP00000343764:R5804Q	R	-	2	0	TTN	179297088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.907000	0.48743	2.865000	0.98341	0.655000	0.94253	CGA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	15	0	0	0	1	0	9	15					T	179588843	C	T	179588843	3	4	48	1	0	0	0	0	1	0	0	0	16750	884	31	1	83546	1	TTN	2	179588843	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3716	179588843	63610530	731	5199										
TTN	7273	broad.mit.edu	37	chr2	179592343	179592343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacatcgtagtacaagagtcGctaccaacatcattggtaac	7	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179592343G>A	ENST00000591111.1	-	66	19235	c.19011C>T	c.(19009-19011)agC>agT	p.S6337S	TTN_ENST00000589042.1_Silent_p.S6654S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Silent_p.S5410S			Q8WZ42	TITIN_HUMAN	titin	13113	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)			TACAAGAGTCGCTACCAACAT	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(19960-19962)agC>agT		titin							187	189	188					2																	179592343		2077	4219	6296	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592343G>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.19011C>T	2.37:g.179592343G>A			Somatic				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S5410S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.S6337S	p.S6654S	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	20186	-			6337			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	Silent	SNP	ENST00000591111.1	37	c.19962C>T																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		52	156	0	0	0	1	0	52	156					A	179592343	G	A	179592343	2	1	48	1	0	0	0	0	0	0	0	1	16750	1078	38	1		1	TTN	2	179592343	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3500	179592343	63607030	732	5200										
TTN	7273	broad.mit.edu	37	chr2	179594290	179594290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctctctgataaaggtggggGgttctaaagattcaaaagga	13	5	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179594290G>A	ENST00000591111.1	-	62	17866	c.17642C>T	c.(17641-17643)cCc>cTc	p.P5881L	TTN_ENST00000589042.1_Missense_Mutation_p.P6198L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P4954L			Q8WZ42	TITIN_HUMAN	titin	12683					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)			AAAGGTGGGGGGTTCTAAAGA	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.(18592-18594)cCc>cTc		titin							79	75	76					2																	179594290		1858	4103	5961	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594290G>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.17642C>T	2.37:g.179594290G>A	ENSP00000465570:p.Pro5881Leu		Somatic				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P4954L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P5881L	p.P6198L	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)		64	18817	-			5881			Ig-like 43.		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.18593C>T		.	.	.	.	.	.	.	.	.	.	G	13.11	2.140562	0.37825	.	.	ENSG00000155657	ENST00000342992	T	0.70869	-0.52	6.06	5.18	0.71444	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74786	0.3762	M	0.85945	2.785	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.74259	-0.3723	9	0.87932	D	0	.	15.2844	0.73816	0.0669:0.0:0.9331:0.0	.	5881	Q8WZ42	TITIN_HUMAN	L	4954	ENSP00000343764:P4954L	ENSP00000343764:P4954L	P	-	2	0	TTN	179302535	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.971000	0.88012	1.570000	0.49709	0.655000	0.94253	CCC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	50	0	0	0	1	0	22	50					A	179594290	G	A	179594290	3	1	48	1	0	0	0	0	1	0	0	0	16750	1232	43	3	86132	3	TTN	2	179594290	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1947	179594290	63605083	733	5201										
TTN	7273	broad.mit.edu	37	chr2	179595004	179595004	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctttaaaccactttattgtCatgggtgcagtgccacccac	7	12	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179595004C>A	ENST00000591111.1	-	60	17396	c.17172G>T	c.(17170-17172)atG>atT	p.M5724I	TTN_ENST00000589042.1_Missense_Mutation_p.M6041I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M4797I			Q8WZ42	TITIN_HUMAN	titin	12529	Ig-like 38.				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)			ACTTTATTGTCATGGGTGCAG	0.478																																						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.(18121-18123)atG>atT		titin							39	37	37					2																	179595004		1892	4115	6007	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179595004C>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.17172G>T	2.37:g.179595004C>A	ENSP00000465570:p.Met5724Ile		Somatic				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.M4797I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.M5724I	p.M6041I	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)		62	18347	-			5724			Ig-like 41.		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.18123G>T		.	.	.	.	.	.	.	.	.	.	C	12.73	2.025418	0.35701	.	.	ENSG00000155657	ENST00000342992	T	0.65916	-0.18	5.89	5.89	0.94794	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48370	0.1496	N	0.16903	0.455	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44345	-0.9334	9	0.87932	D	0	.	14.4167	0.67155	0.0:0.93:0.0:0.07	.	5724	Q8WZ42	TITIN_HUMAN	I	4797	ENSP00000343764:M4797I	ENSP00000343764:M4797I	M	-	3	0	TTN	179303249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.080000	0.41586	2.793000	0.96121	0.655000	0.94253	ATG		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	18	1	0	8.12818e-05	1	8.79784e-05	7	18					A	179595004	C	A	179595004	3	1	48	1	0	0	0	0	1	0	0	0	16750	826	29	2	86610	2	TTN	2	179595004	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	714	179595004	63604369	734	5202										
TTN	7273	broad.mit.edu	37	chr2	179596285	179596285	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggagggagctggtactctcGatcttctttatgaaggatgg	14	7	3	1	rs397517484		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179596285G>A	ENST00000591111.1	-	57	16481	c.16257C>T	c.(16255-16257)atC>atT	p.I5419I	TTN_ENST00000589042.1_Silent_p.I5736I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.I4492I			Q8WZ42	TITIN_HUMAN	titin	12239	Ig-like 35.				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)			TGGTACTCTCGATCTTCTTTA	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.(17206-17208)atC>atT		titin							37	37	37					2																	179596285		1858	4099	5957	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596285G>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.16257C>T	2.37:g.179596285G>A			Somatic				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.I4492I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.I5419I	p.I5736I	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)		59	17432	-			5419			Ig-like 38.		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.17208C>T																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	30	0	0	0	1	0	9	30					A	179596285	G	A	179596285	2	1	48	1	0	0	0	0	0	0	0	1	16750	1048	37	1		1	TTN	2	179596285	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1281	179596285	63603088	735	5203										
TTN	7273	broad.mit.edu	37	chr2	179596486	179596486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtcacccgacactggtattCgccagcatctgcagctacaa	9	14	2	0	rs376593556		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179596486C>T	ENST00000591111.1	-	56	16389	c.16165G>A	c.(16165-16167)Gaa>Aaa	p.E5389K	TTN_ENST00000589042.1_Missense_Mutation_p.E5706K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E4462K			Q8WZ42	TITIN_HUMAN	titin	12208	Ig-like 34.				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.E4462K(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)			CACTGGTATTCGCCAGCATCT	0.488																																						ENST00000589042.1																			1	Substitution - Missense(1)	p.E4462K(1)	endometrium(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.(17116-17118)Gaa>Aaa		titin		C	,,,LYS/GLU	2,3896		0,2,1947	103	104	104		,,,13384	5.1	0.9	2		104	0,8292		0,0,4146	no	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,56	0,2,6093	TT,TC,CC		0.0,0.0513,0.0164	,,,benign	,,,4462/33424	179596486	2,12188	1949	4146	6095	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596486C>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.16165G>A	2.37:g.179596486C>T	ENSP00000465570:p.Glu5389Lys		Somatic				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4462K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5389K	p.E5706K	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)		58	17340	-			5389			Ig-like 38.		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.17116G>A		.	.	.	.	.	.	.	.	.	.	C	10.51	1.370646	0.24771	5.13E-4	0.0	ENSG00000155657	ENST00000342992	T	0.65916	-0.18	5.93	5.06	0.68205	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52484	0.1737	L	0.31420	0.93	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.51004	-0.8760	9	0.87932	D	0	.	15.1585	0.72761	0.0:0.9328:0.0:0.0672	.	5389	Q8WZ42	TITIN_HUMAN	K	4462	ENSP00000343764:E4462K	ENSP00000343764:E4462K	E	-	1	0	TTN	179304731	0.010000	0.17322	0.918000	0.36340	0.955000	0.61496	0.419000	0.21247	1.536000	0.49237	0.655000	0.94253	GAA		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		41	85	0	0	0	1	0	41	85					T	179596486	C	T	179596486	3	4	48	1	0	0	0	0	1	0	0	0	16750	893	31	1	87633	1	TTN	2	179596486	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	201	179596486	63602887	736	5204										
TTN	7273	broad.mit.edu	37	chr2	179600640	179600640	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatgtgtttgttttctgcgtCggaaatcctccagttaggtg	11	7	1	0	rs373378672		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179600640C>T	ENST00000591111.1	-	48	13806	c.13582G>A	c.(13582-13584)Gac>Aac	p.D4528N	TTN_ENST00000589042.1_Missense_Mutation_p.D4845N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D3601N			Q8WZ42	TITIN_HUMAN	titin	12284	Ig-like 25.				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.D3601N(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)			TTTTCTGCGTCGGAAATCCTC	0.438																																						ENST00000589042.1																			1	Substitution - Missense(1)	p.D3601N(1)	lung(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.(14533-14535)Gac>Aac		titin		C	,,,ASN/ASP	1,3869		0,1,1934	134	130	131		,,,10801	3	0.8	2		131	1,8283		0,1,4141	no	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,23	0,2,6075	TT,TC,CC		0.0121,0.0258,0.0165	,,,benign	,,,3601/33424	179600640	2,12152	1935	4142	6077	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179600640C>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.13582G>A	2.37:g.179600640C>T	ENSP00000465570:p.Asp4528Asn		Somatic				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D3601N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D4528N	p.D4845N	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)		50	14757	-			4528			Ig-like 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.14533G>A		.	.	.	.	.	.	.	.	.	.	C	2.067	-0.413997	0.04799	2.58E-4	1.21E-4	ENSG00000155657	ENST00000342992	T	0.65732	-0.17	5.93	3.04	0.35103	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46268	0.1384	N	0.16016	0.355	0.09310	N	0.999998	B	0.19706	0.038	B	0.19391	0.025	T	0.41910	-0.9482	9	0.87932	D	0	.	11.6408	0.51230	0.0:0.5364:0.3944:0.0693	.	4528	Q8WZ42	TITIN_HUMAN	N	3601	ENSP00000343764:D3601N	ENSP00000343764:D3601N	D	-	1	0	TTN	179308885	0.115000	0.22152	0.781000	0.31783	0.010000	0.07245	-0.071000	0.11505	0.332000	0.23536	-0.211000	0.12701	GAC		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	46	0	0	0	1	0	17	46					T	179600640	C	T	179600640	3	4	48	1	0	0	0	0	1	0	0	0	16750	884	31	1	90248	1	TTN	2	179600640	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4154	179600640	63598733	737	5205										
TTN	7273	broad.mit.edu	37	chr2	179604701	179604701	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctccaccttttcaatatttCttagccactcagagaaaaga	4	12	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179604701C>A	ENST00000591111.1	-	46	12532	c.12308G>T	c.(12307-12309)aGa>aTa	p.R4103I	TTN_ENST00000589042.1_Missense_Mutation_p.R4420I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4249I|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4182I|TTN_ENST00000460472.2_Missense_Mutation_p.R4057I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron			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.R4249I(1)|p.R4182I(1)|p.R4057I(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)			TTCAATATTTCTTAGCCACTC	0.473																																						ENST00000589042.1																			3	Substitution - Missense(3)	p.R4249I(1)|p.R4182I(1)|p.R4057I(1)	large_intestine(3)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_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.(13258-13260)aGa>aTa		titin							93	95	94					2																	179604701		1951	4130	6081	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604701C>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.12308G>T	2.37:g.179604701C>A	ENSP00000465570:p.Arg4103Ile		Somatic				TTN_ENST00000342175.6_Missense_Mutation_p.R4249I|TTN_ENST00000359218.5_Missense_Mutation_p.R4182I|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4057I|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R4103I	p.R4420I	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	13483	-			4103			Ig-like 24.		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.13259G>T		.	.	.	.	.	.	.	.	.	.	C	8.389	0.839256	0.16891	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.62105	0.11;0.06;0.05	5.56	4.68	0.58851	.	.	.	.	.	T	0.47266	0.1436	L	0.29908	0.895	0.31719	N	0.638484	B;B;B	0.21381	0.055;0.055;0.055	B;B;B	0.18263	0.021;0.021;0.021	T	0.53865	-0.8378	9	0.87932	D	0	.	5.5304	0.16980	0.0:0.6117:0.1594:0.2289	.	4057;4182;4249	D3DPF9;E7EQE6;E7ET18	.;.;.	I	4057;4249;4182;4057	ENSP00000434586:R4057I;ENSP00000340554:R4249I;ENSP00000352154:R4182I	ENSP00000340554:R4249I	R	-	2	0	TTN	179312946	0.338000	0.24775	1.000000	0.80357	0.489000	0.33432	1.718000	0.38001	1.365000	0.46057	-0.150000	0.13652	AGA		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	47	1	0	9.17885e-22	1	1.27125e-21	34	47					A	179604701	C	A	179604701	3	1	48	1	0	0	0	0	1	0	0	0	16750	913	32	2	91530	2	TTN	2	179604701	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4061	179604701	63594672	738	5206										
TTN	7273	broad.mit.edu	37	chr2	179605938	179605938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctgctttacagatatagaGgccactgtcttccctctgag	8	12	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179605938G>A	ENST00000591111.1	-	46	11295	c.11071C>T	c.(11071-11073)Ctc>Ttc	p.L3691F	TTN_ENST00000589042.1_Missense_Mutation_p.L4008F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L3837F|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L3770F|TTN_ENST00000460472.2_Missense_Mutation_p.L3645F|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13993	Ig-like 22.				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)			CAGATATAGAGGCCACTGTCT	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.(12022-12024)Ctc>Ttc		titin							68	70	69					2																	179605938		1912	4130	6042	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605938G>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.11071C>T	2.37:g.179605938G>A	ENSP00000465570:p.Leu3691Phe		Somatic				TTN_ENST00000342175.6_Missense_Mutation_p.L3837F|TTN_ENST00000359218.5_Missense_Mutation_p.L3770F|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L3645F|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L3691F	p.L4008F	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	12246	-			3691					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.12022C>T		.	.	.	.	.	.	.	.	.	.	G	4.676	0.125710	0.08931	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.67345	-0.26;-0.26;-0.26	5.87	1.81	0.25067	.	.	.	.	.	T	0.56031	0.1958	L	0.56199	1.76	0.21256	N	0.999742	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.12156	0.007;0.007;0.007	T	0.53718	-0.8399	9	0.87932	D	0	.	2.2712	0.04091	0.1852:0.1129:0.4696:0.2323	.	3645;3770;3837	D3DPF9;E7EQE6;E7ET18	.;.;.	F	3645;3837;3770;3645	ENSP00000434586:L3645F;ENSP00000340554:L3837F;ENSP00000352154:L3770F	ENSP00000340554:L3837F	L	-	1	0	TTN	179314183	0.204000	0.23447	0.999000	0.59377	0.152000	0.21847	0.031000	0.13710	0.463000	0.27118	-0.150000	0.13652	CTC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	62	0	0	0	1	0	27	62					A	179605938	G	A	179605938	3	1	48	1	0	0	0	0	1	0	0	0	16750	1000	35	3	92767	3	TTN	2	179605938	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1237	179605938	63593435	739	5207										
TTN	7273	broad.mit.edu	37	chr2	179613073	179613073	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacttttctccaccatagttCtatttgaaagctcttgactg	5	10	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179613073C>T	ENST00000591111.1	-	45	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R4685K|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCATAGTTCTATTTGAAAG	0.328																																						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.(14053-14055)aGa>aAa		titin							78	87	84					2																	179613073		2201	4296	6497	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613073C>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.10360+4777G>A	2.37:g.179613073C>T			Somatic				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron	p.R4685K	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	14276	-			800			Ig-like 27.		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.14054G>A		.	.	.	.	.	.	.	.	.	.	C	10.18	1.278752	0.23307	.	.	ENSG00000155657	ENST00000360870	T	0.57273	0.41	5.15	2.35	0.29111	.	.	.	.	.	T	0.29716	0.0742	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25916	-1.0118	9	0.02654	T	1	.	7.5471	0.27772	0.0:0.6655:0.0:0.3345	.	4685	Q8WZ42-6	.	K	4685	ENSP00000354117:R4685K	ENSP00000354117:R4685K	R	-	2	0	TTN	179321318	0.000000	0.05858	0.012000	0.15200	0.165000	0.22458	0.056000	0.14256	0.559000	0.29153	0.650000	0.86243	AGA		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	46	0	0	0	1	0	26	46					T	179613073	C	T	179613073	1	4	48	0	1	0	0	0	0	0	0	0	16750	913	32	3		3	TTN	2	179613073	Intron	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	7135	179613073	63586300	740	5208										
TTN	7273	broad.mit.edu	37	chr2	179629268	179629268	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctaccttccactgagagtGaagctgatgttgtggcaaca	10	10	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179629268G>T	ENST00000591111.1	-	42	10198	c.9974C>A	c.(9973-9975)tCa>tAa	p.S3325*	TTN_ENST00000589042.1_Nonsense_Mutation_p.S3325*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.S3279*|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.S3279*|TTN_ENST00000460472.2_Nonsense_Mutation_p.S3279*|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Nonsense_Mutation_p.S3325*|TTN_ENST00000342992.6_Nonsense_Mutation_p.S3325*			Q8WZ42	TITIN_HUMAN	titin	13652	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)			CACTGAGAGTGAAGCTGATGT	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.(9973-9975)tCa>tAa		titin							132	128	129					2																	179629268		2203	4300	6503	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179629268G>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.9974C>A	2.37:g.179629268G>T	ENSP00000465570:p.Ser3325*		Somatic				TTN_ENST00000342175.6_Nonsense_Mutation_p.S3279*|TTN_ENST00000359218.5_Nonsense_Mutation_p.S3279*|TTN_ENST00000342992.6_Nonsense_Mutation_p.S3325*|TTN_ENST00000360870.5_Nonsense_Mutation_p.S3325*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.S3279*|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.S3325*	p.S3325*	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	10198	-			3050			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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.9974C>A		.	.	.	.	.	.	.	.	.	.	G	52	19.442070	0.99919	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.821	0.96592	0.0:0.0:1.0:0.0	.	.	.	.	X	3325;3279;3279;3279;3279;3325	.	ENSP00000340554:S3279X	S	-	2	0	TTN	179337513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.683000	0.91414	0.655000	0.94253	TCA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	71	1	0	7.11191e-15	1	9.30872e-15	34	71					T	179629268	G	T	179629268	4	4	48	1	0	0	0	0	0	1	0	0	16750	1294	45	2	101298	2	TTN	2	179629268	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	16195	179629268	63570105	741	5209										
TTN	7273	broad.mit.edu	37	chr2	179631267	179631267	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaattgatttcaatgccatCtttataccagtgggcatcaa	7	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179631267C>A	ENST00000591111.1	-	41	9768	c.9544G>T	c.(9544-9546)Gat>Tat	p.D3182Y	TTN_ENST00000589042.1_Missense_Mutation_p.D3182Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D3136Y|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D3136Y|TTN_ENST00000460472.2_Missense_Mutation_p.D3136Y|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D3182Y|TTN_ENST00000342992.6_Missense_Mutation_p.D3182Y			Q8WZ42	TITIN_HUMAN	titin	13514					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)			TCAATGCCATCTTTATACCAG	0.393																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(9544-9546)Gat>Tat		titin							141	128	132					2																	179631267		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179631267C>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.9544G>T	2.37:g.179631267C>A	ENSP00000465570:p.Asp3182Tyr		Somatic				TTN_ENST00000342175.6_Missense_Mutation_p.D3136Y|TTN_ENST00000359218.5_Missense_Mutation_p.D3136Y|TTN_ENST00000342992.6_Missense_Mutation_p.D3182Y|TTN_ENST00000360870.5_Missense_Mutation_p.D3182Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D3136Y|TTN_ENST00000591111.1_Missense_Mutation_p.D3182Y	p.D3182Y	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)		41	9768	-			2917					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.9544G>T		.	.	.	.	.	.	.	.	.	.	C	13.84	2.356757	0.41801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22	5.7	5.7	0.88788	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35219	0.0924	M	0.82323	2.585	0.37047	D	0.897437	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.78314	0.979;0.979;0.979;0.979;0.991	T	0.32877	-0.9890	9	0.87932	D	0	.	19.8277	0.96624	0.0:1.0:0.0:0.0	.	3136;3136;3136;3182;3182	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Y	3182;3136;3136;3136;3136;3182	ENSP00000343764:D3182Y;ENSP00000434586:D3136Y;ENSP00000340554:D3136Y;ENSP00000352154:D3136Y;ENSP00000354117:D3182Y	ENSP00000340554:D3136Y	D	-	1	0	TTN	179339512	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.745000	0.68672	2.695000	0.91970	0.591000	0.81541	GAT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	26	1	0	2.94398e-08	1	3.45884e-08	20	26					A	179631267	C	A	179631267	3	1	48	1	0	0	0	0	1	0	0	0	16750	913	32	2	101732	2	TTN	2	179631267	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1999	179631267	63568106	742	5210										
TTN	7273	broad.mit.edu	37	chr2	179639177	179639177	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacttctatgtcctgaagttCtttcacaaactcaacaactg	4	11	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179639177C>A	ENST00000591111.1	-	30	7038	c.6814G>T	c.(6814-6816)Gaa>Taa	p.E2272*	TTN_ENST00000589042.1_Nonsense_Mutation_p.E2272*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E2226*|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E2226*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E2226*|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Nonsense_Mutation_p.E2272*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E2272*			Q8WZ42	TITIN_HUMAN	titin	12595	Ig-like 12.				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)			TCCTGAAGTTCTTTCACAAAC	0.348																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(6814-6816)Gaa>Taa		titin							54	53	53					2																	179639177		2202	4300	6502	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639177C>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.6814G>T	2.37:g.179639177C>A	ENSP00000465570:p.Glu2272*		Somatic				TTN_ENST00000342175.6_Nonsense_Mutation_p.E2226*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E2226*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E2272*|TTN_ENST00000360870.5_Nonsense_Mutation_p.E2272*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E2226*|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E2272*	p.E2272*	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)		30	7038	-			1996			Ig-like 12.		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.6814G>T		.	.	.	.	.	.	.	.	.	.	C	47	13.831064	0.99765	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	.	.	.	X	2272;2226;2226;2226;2226;2272	.	ENSP00000340554:E2226X	E	-	1	0	TTN	179347422	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.217000	0.51184	2.650000	0.89964	0.557000	0.71058	GAA		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	18	1	0	0.000151284	1	0.00016287	13	18					A	179639177	C	A	179639177	4	1	48	1	0	0	0	0	0	1	0	0	16750	922	32	2	104506	2	TTN	2	179639177	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	7910	179639177	63560196	743	5211										
TTN	7273	broad.mit.edu	37	chr2	179640269	179640269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atttttgtaccattcacattCggggtctggtttccccacga	8	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179640269C>T	ENST00000591111.1	-	28	6546	c.6322G>A	c.(6322-6324)Gaa>Aaa	p.E2108K	TTN_ENST00000589042.1_Missense_Mutation_p.E2108K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E2062K|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E2062K|TTN_ENST00000460472.2_Missense_Mutation_p.E2062K|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E2108K|TTN_ENST00000342992.6_Missense_Mutation_p.E2108K			Q8WZ42	TITIN_HUMAN	titin	12796	Ig-like 10.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTCACATTCGGGGTCTGGT	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.(6322-6324)Gaa>Aaa		titin							75	80	79					2																	179640269		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640269C>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.6322G>A	2.37:g.179640269C>T	ENSP00000465570:p.Glu2108Lys		Somatic				TTN_ENST00000342175.6_Missense_Mutation_p.E2062K|TTN_ENST00000359218.5_Missense_Mutation_p.E2062K|TTN_ENST00000342992.6_Missense_Mutation_p.E2108K|TTN_ENST00000360870.5_Missense_Mutation_p.E2108K|TTN_ENST00000460472.2_Missense_Mutation_p.E2062K|TTN_ENST00000591111.1_Missense_Mutation_p.E2108K	p.E2108K	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	6546	-			1871			Ig-like 10.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.6322G>A		.	.	.	.	.	.	.	.	.	.	C	15.28	2.785358	0.49997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78622	0.4312	L	0.48260	1.515	0.41730	D	0.989558	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.996;0.996;0.996;0.998	T	0.80659	-0.1284	9	0.87932	D	0	.	19.0299	0.92952	0.0:1.0:0.0:0.0	.	2062;2062;2062;2108;2108	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	2108;2062;2062;2062;2062;2108	ENSP00000343764:E2108K;ENSP00000434586:E2062K;ENSP00000340554:E2062K;ENSP00000352154:E2062K;ENSP00000354117:E2108K	ENSP00000340554:E2062K	E	-	1	0	TTN	179348514	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.792000	0.85828	2.503000	0.84419	0.655000	0.94253	GAA		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	31	0	0	0	1	0	23	31					T	179640269	C	T	179640269	3	4	48	1	0	0	0	0	1	0	0	0	16750	893	31	1	105006	1	TTN	2	179640269	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1092	179640269	63559104	744	5212										
TTN	7273	broad.mit.edu	37	chr2	179645959	179645959	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaaatcaccagcttgcattCaccggtttgtttgttgtaac	8	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179645959C>A	ENST00000591111.1	-	21	3636	c.3412G>T	c.(3412-3414)Gaa>Taa	p.E1138*	TTN_ENST00000589042.1_Nonsense_Mutation_p.E1138*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E1092*|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E1092*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E1092*|TTN_ENST00000360870.5_Nonsense_Mutation_p.E1138*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E1138*			Q8WZ42	TITIN_HUMAN	titin	33355	Ig-like 4.				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)			AGCTTGCATTCACCGGTTTGT	0.348																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(3412-3414)Gaa>Taa		titin							235	203	214					2																	179645959		2203	4300	6503	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179645959C>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.3412G>T	2.37:g.179645959C>A	ENSP00000465570:p.Glu1138*		Somatic				TTN_ENST00000342175.6_Nonsense_Mutation_p.E1092*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E1092*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E1138*|TTN_ENST00000360870.5_Nonsense_Mutation_p.E1138*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E1092*|TTN_ENST00000591111.1_Nonsense_Mutation_p.E1138*	p.E1138*	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)		21	3636	-			1138			Ig-like 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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.3412G>T		.	.	.	.	.	.	.	.	.	.	C	44	10.732760	0.99458	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2885	0.98538	0.0:1.0:0.0:0.0	.	.	.	.	X	1138;1092;1092;1092;1092;1138	.	ENSP00000340554:E1092X	E	-	1	0	TTN	179354204	1.000000	0.71417	0.989000	0.46669	0.920000	0.55202	4.840000	0.62817	2.791000	0.96007	0.650000	0.86243	GAA		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	28	1	0	1.26484e-09	1	1.52852e-09	7	28					A	179645959	C	A	179645959	4	1	48	1	0	0	0	0	0	1	0	0	16750	835	29	2	107944	2	TTN	2	179645959	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5690	179645959	63553414	745	5213										
TTN	7273	broad.mit.edu	37	chr2	179654773	179654773	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctacctcttgatactaaatCttgttctttgactttgggtg	7	8	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179654773C>T	ENST00000591111.1	-	12	2094	c.1870G>A	c.(1870-1872)Gat>Aat	p.D624N	TTN_ENST00000589042.1_Missense_Mutation_p.D624N|TTN_ENST00000342175.6_Missense_Mutation_p.D578N|TTN_ENST00000359218.5_Missense_Mutation_p.D578N|TTN_ENST00000460472.2_Missense_Mutation_p.D578N|TTN_ENST00000360870.5_Missense_Mutation_p.D624N|TTN_ENST00000342992.6_Missense_Mutation_p.D624N			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)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_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)			GATACTAAATCTTGTTCTTTG	0.348																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(1870-1872)Gat>Aat		titin							244	224	231					2																	179654773		2202	4300	6502	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179654773C>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.1870G>A	2.37:g.179654773C>T	ENSP00000465570:p.Asp624Asn		Somatic				TTN_ENST00000342175.6_Missense_Mutation_p.D578N|TTN_ENST00000359218.5_Missense_Mutation_p.D578N|TTN_ENST00000342992.6_Missense_Mutation_p.D624N|TTN_ENST00000360870.5_Missense_Mutation_p.D624N|TTN_ENST00000460472.2_Missense_Mutation_p.D578N|TTN_ENST00000591111.1_Missense_Mutation_p.D624N	p.D624N	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)		12	2094	-			624					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.1870G>A		.	.	.	.	.	.	.	.	.	.	C	16.13	3.037314	0.54896	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.87	5.87	0.94306	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.57125	0.2032	L	0.57536	1.79	0.28092	N	0.931748	P;P;P;P;D	0.53462	0.549;0.549;0.549;0.549;0.96	B;B;B;B;P	0.52856	0.346;0.346;0.346;0.346;0.711	T	0.55010	-0.8207	9	0.87932	D	0	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	578;578;578;624;624	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	624;578;578;578;578;624	ENSP00000343764:D624N;ENSP00000434586:D578N;ENSP00000340554:D578N;ENSP00000352154:D578N;ENSP00000354117:D624N	ENSP00000340554:D578N	D	-	1	0	TTN	179363018	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	3.764000	0.55264	2.780000	0.95670	0.655000	0.94253	GAT		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	39	0	0	0	1	0	27	39					T	179654773	C	T	179654773	3	4	48	1	0	0	0	0	1	0	0	0	16750	913	32	3	109522	3	TTN	2	179654773	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	8814	179654773	63544600	746	5214										
TTN	7273	broad.mit.edu	37	chr2	179664562	179664562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaaaaataccttttcaattCgggtttgtcttgattctgag	8	6	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179664562C>T	ENST00000591111.1	-	5	883	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	TTN_ENST00000589042.1_Missense_Mutation_p.R220Q|TTN_ENST00000342175.6_Missense_Mutation_p.R220Q|TTN_ENST00000359218.5_Missense_Mutation_p.R220Q|TTN_ENST00000460472.2_Missense_Mutation_p.R220Q|TTN_ENST00000360870.5_Missense_Mutation_p.R220Q|TTN_ENST00000342992.6_Missense_Mutation_p.R220Q			Q8WZ42	TITIN_HUMAN	titin	33894					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.R220P(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			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTCAATTCGGGTTTGTCT	0.403																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.R220P(6)	lung(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.(658-660)cGa>cAa		titin							98	97	98					2																	179664562		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179664562C>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.659G>A	2.37:g.179664562C>T	ENSP00000465570:p.Arg220Gln		Somatic				TTN_ENST00000342175.6_Missense_Mutation_p.R220Q|TTN_ENST00000359218.5_Missense_Mutation_p.R220Q|TTN_ENST00000342992.6_Missense_Mutation_p.R220Q|TTN_ENST00000360870.5_Missense_Mutation_p.R220Q|TTN_ENST00000460472.2_Missense_Mutation_p.R220Q|TTN_ENST00000591111.1_Missense_Mutation_p.R220Q	p.R220Q	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)		5	883	-			220					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.659G>A		.	.	.	.	.	.	.	.	.	.	C	21.5	4.153628	0.78114	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67345	-0.26;-0.06;-0.08;-0.09;0.14	5.92	5.05	0.67936	.	.	.	.	.	T	0.61974	0.2390	M	0.61703	1.905	0.27009	N	0.964739	B;B;B;B;P	0.46512	0.272;0.272;0.272;0.272;0.879	B;B;B;B;B	0.33750	0.022;0.022;0.022;0.022;0.169	T	0.62158	-0.6913	9	0.87932	D	0	.	15.3812	0.74658	0.0:0.9331:0.0:0.0669	.	220;220;220;220;220	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	220	ENSP00000343764:R220Q;ENSP00000434586:R220Q;ENSP00000340554:R220Q;ENSP00000352154:R220Q;ENSP00000354117:R220Q	ENSP00000340554:R220Q	R	-	2	0	TTN	179372807	1.000000	0.71417	0.980000	0.43619	0.990000	0.78478	4.653000	0.61462	1.517000	0.48917	0.655000	0.94253	CGA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	31	0	0	0	1	0	18	31					T	179664562	C	T	179664562	3	4	48	1	0	0	0	0	1	0	0	0	16750	884	31	1	110761	1	TTN	2	179664562	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	9789	179664562	63534811	747	5215										
CWC22	57703	broad.mit.edu	37	chr2	180835565	180835565	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagactcatgcagaatgtttCgaaggcgttcaaatatagct	9	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:180835565C>T	ENST00000410053.3	-	10	1258	c.959G>A	c.(958-960)cGa>cAa	p.R320Q	CWC22_ENST00000295749.6_Missense_Mutation_p.R320Q	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	320	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CAGAATGTTTCGAAGGCGTTC	0.308																																						ENST00000410053.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(958-960)cGa>cAa		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							105	99	101					2																	180835565		1820	4082	5902	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180835565C>T		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.959G>A	2.37:g.180835565C>T	ENSP00000387006:p.Arg320Gln		Somatic				CWC22_ENST00000295749.6_Missense_Mutation_p.R320Q	p.R320Q	NM_020943.2	NP_065994.1	WXS	Illumina GAIIx	Phase_I	Q9HCG8	CWC22_HUMAN			10	1258	-			320			MIF4G.		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.959G>A	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906134	0.92107	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.19532	2.14;2.14;2.14	5.95	5.07	0.68467	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.051008	0.85682	N	0.000000	T	0.58779	0.2146	H	0.95224	3.64	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.70371	-0.4890	10	0.87932	D	0	-8.7815	14.6808	0.69015	0.0:0.9296:0.0:0.0704	.	320	Q9HCG8	CWC22_HUMAN	Q	320	ENSP00000387006:R320Q;ENSP00000295749:R320Q;ENSP00000384159:R320Q	ENSP00000295749:R320Q	R	-	2	0	CWC22	180543810	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.084000	0.71335	2.824000	0.97209	0.655000	0.94253	CGA		0.308	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		24	41	0	0	0	1	0	24	41					T	180835565	C	T	180835565	3	4	48	1	0	0	0	0	1	0	0	0	4070	884	31	1	1811	1	CWC22	2	180835565	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1171003	180835565	62363808	748	5216										
CWC22	57703	broad.mit.edu	37	chr2	180838374	180838374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatataccttgtcatttcttCgatagccttttcgaaaatta	4	8	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:180838374C>T	ENST00000410053.3	-	7	1036	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	CWC22_ENST00000295749.6_Missense_Mutation_p.R246Q	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	246	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.R246Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GTCATTTCTTCGATAGCCTTT	0.313																																						ENST00000410053.3																			1	Substitution - Missense(1)	p.R246Q(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(736-738)cGa>cAa		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							45	40	41					2																	180838374		1829	4079	5908	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180838374C>T		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.737G>A	2.37:g.180838374C>T	ENSP00000387006:p.Arg246Gln		Somatic				CWC22_ENST00000295749.6_Missense_Mutation_p.R246Q	p.R246Q	NM_020943.2	NP_065994.1	WXS	Illumina GAIIx	Phase_I	Q9HCG8	CWC22_HUMAN			7	1036	-			246			MIF4G.		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.737G>A	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526820	0.85706	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.21932	1.98;1.98;1.98	5.74	4.87	0.63330	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	L	0.58969	1.84	0.58432	D	0.999998	P	0.51057	0.941	B	0.39531	0.302	T	0.04413	-1.0953	10	0.66056	D	0.02	-2.7385	13.8224	0.63331	0.0:0.9266:0.0:0.0734	.	246	Q9HCG8	CWC22_HUMAN	Q	246	ENSP00000387006:R246Q;ENSP00000295749:R246Q;ENSP00000384159:R246Q	ENSP00000295749:R246Q	R	-	2	0	CWC22	180546619	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.650000	0.83521	1.433000	0.47394	-0.142000	0.14014	CGA		0.313	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		8	14	0	0	0	1	0	8	14					T	180838374	C	T	180838374	3	4	48	1	0	0	0	0	1	0	0	0	4070	884	31	1	2045	1	CWC22	2	180838374	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2809	180838374	62360999	749	5217										
ITGA4	3676	broad.mit.edu	37	chr2	182339888	182339888	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacttttattttattcagacTtgtgggcatagatggaaaaa	8	4	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182339888T>G	ENST00000397033.2	+	4	859	c.429T>G	c.(427-429)acT>acG	p.T143T	ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Silent_p.T143T	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	143					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)	TTATTCAGACTTGTGGGCATA	0.408																																						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.(427-429)acT>acG		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						79	78	79					2																	182339888		1839	4084	5923	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.chr2:182339888T>G		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.429T>G	2.37:g.182339888T>G			Somatic				ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Silent_p.T143T	p.T143T	NM_000885.4	NP_000876.3	WXS	Illumina GAIIx	Phase_I	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		4	859	+			143					D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.429T>G	CCDS42788.1																																																																																				0.408	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			9	48	0	0	0	1	0	9	48					G	182339888	T	G	182339888	2	3	48	1	0	0	0	0	0	0	0	1	7887	1596	56	4		4	ITGA4	2	182339888	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1501514	182339888	60859485	750	5218										
ITGA4	3676	broad.mit.edu	37	chr2	182339943	182339943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaatgaaaataagctccccActggtggttgctatggagtg	12	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182339943A>G	ENST00000397033.2	+	4	914	c.484A>G	c.(484-486)Act>Gct	p.T162A	ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Missense_Mutation_p.T162A	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	162					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)	TAAGCTCCCCACTGGTGGTTG	0.373																																						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.(484-486)Act>Gct		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						100	98	99					2																	182339943		1827	4085	5912	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.chr2:182339943A>G		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.484A>G	2.37:g.182339943A>G	ENSP00000380227:p.Thr162Ala		Somatic				ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Missense_Mutation_p.T162A	p.T162A	NM_000885.4	NP_000876.3	WXS	Illumina GAIIx	Phase_I	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		4	914	+			162					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.484A>G	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	A	9.363	1.068462	0.20067	.	.	ENSG00000115232	ENST00000425522;ENST00000339307;ENST00000397033;ENST00000233573	T;T;T	0.53857	0.6;0.6;0.6	5.42	5.42	0.78866	.	0.431825	0.25912	N	0.027485	T	0.47210	0.1433	M	0.73598	2.24	0.20638	N	0.99988	B;B	0.21905	0.008;0.062	B;B	0.19148	0.012;0.024	T	0.37478	-0.9704	10	0.15952	T	0.53	.	6.8942	0.24247	0.6964:0.1642:0.0:0.1393	.	162;162	E7EP60;P13612	.;ITA4_HUMAN	A	162	ENSP00000340149:T162A;ENSP00000380227:T162A;ENSP00000233573:T162A	ENSP00000233573:T162A	T	+	1	0	ITGA4	182048188	0.000000	0.05858	0.882000	0.34594	0.980000	0.70556	0.143000	0.16115	2.176000	0.68965	0.528000	0.53228	ACT		0.373	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			29	49	0	0	0	1	0	29	49					G	182339943	A	G	182339943	3	3	48	1	0	0	0	0	1	0	0	0	7887	159	6	4	498	4	ITGA4	2	182339943	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	55	182339943	60859430	751	5219										
ITGA4	3676	broad.mit.edu	37	chr2	182350655	182350655	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacctcgttggaagtgacaaAtatgctgcaagatttgggga	12	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182350655A>G	ENST00000397033.2	+	10	1519	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	363					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.K363N(1)		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)	GAAGTGACAAATATGCTGCAA	0.368																																						ENST00000397033.2																			1	Substitution - Missense(1)	p.K363N(1)	ovary(1)	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.(1087-1089)aaA>aaG		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						170	160	163					2																	182350655		1862	4107	5969	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.chr2:182350655A>G		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1089A>G	2.37:g.182350655A>G			Somatic					p.K363K	NM_000885.4	NP_000876.3	WXS	Illumina GAIIx	Phase_I	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		10	1519	+			363					D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.1089A>G	CCDS42788.1																																																																																				0.368	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			27	44	0	0	0	1	0	27	44					G	182350655	A	G	182350655	2	3	48	1	0	0	0	0	0	0	0	1	7887	98	4	4		4	ITGA4	2	182350655	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	10712	182350655	60848718	752	5220										
ITGA4	3676	broad.mit.edu	37	chr2	182350666	182350666	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagtgacaaatatgctgcaaGatttggggaatctatagtta	10	4	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182350666G>A	ENST00000397033.2	+	10	1530	c.1100G>A	c.(1099-1101)aGa>aAa	p.R367K		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	367					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)	TATGCTGCAAGATTTGGGGAA	0.363																																						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.(1099-1101)aGa>aAa		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						175	164	167					2																	182350666		1858	4099	5957	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.chr2:182350666G>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.1100G>A	2.37:g.182350666G>A	ENSP00000380227:p.Arg367Lys		Somatic					p.R367K	NM_000885.4	NP_000876.3	WXS	Illumina GAIIx	Phase_I	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		10	1530	+			367					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1100G>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947444	0.73672	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.24723	1.84;1.84	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.59998	0.2235	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.83275	0.95;0.996	T	0.63093	-0.6714	10	0.56958	D	0.05	.	20.1945	0.98239	0.0:0.0:1.0:0.0	.	367;367	E7EP60;P13612	.;ITA4_HUMAN	K	367	ENSP00000380227:R367K;ENSP00000233573:R367K	ENSP00000233573:R367K	R	+	2	0	ITGA4	182058911	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.005000	0.76323	2.768000	0.95171	0.585000	0.79938	AGA		0.363	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			26	48	0	0	0	1	0	26	48					A	182350666	G	A	182350666	3	1	48	1	0	0	0	0	1	0	0	0	7887	942	33	3	1138	3	ITGA4	2	182350666	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	11	182350666	60848707	753	5221										
CERKL	375298	broad.mit.edu	37	chr2	182412416	182412416	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccataatgctgacattcaaGaactgaccctggatcatttg	8	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182412416G>A	ENST00000339098.5	-	11	1274	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	CERKL_ENST00000374969.2_Silent_p.F286F|CERKL_ENST00000409440.3_Silent_p.F381F|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000410087.3_Silent_p.F399F|CERKL_ENST00000374970.2_Silent_p.F330F			Q49MI3	CERKL_HUMAN	ceramide kinase-like	425					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGACATTCAAGAACTGACCCT	0.403																																						ENST00000410087.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32						c.(1195-1197)ttC>ttT		ceramide kinase-like							144	141	142					2																	182412416		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	g.chr2:182412416G>A	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"retinitis pigmentosa 26 (autosomal recessive)"	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1275C>T	2.37:g.182412416G>A			Somatic				CERKL_ENST00000339098.5_Silent_p.F425F|CERKL_ENST00000374969.2_Silent_p.F286F|CERKL_ENST00000374970.2_Silent_p.F330F|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Silent_p.F381F	p.F399F	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	WXS	Illumina GAIIx	Phase_I	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		10	1297	-			425					B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Silent	SNP	ENST00000339098.5	37	c.1197C>T	CCDS42789.1																																																																																				0.403	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			47	90	0	0	0	1	0	47	90					A	182412416	G	A	182412416	2	1	48	1	0	0	0	0	0	0	0	1	3270	933	33	3		3	CERKL	2	182412416	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	61750	182412416	60786957	754	5222										
SSFA2	6744	broad.mit.edu	37	chr2	182767184	182767184	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagcagaaggactccttcgaAatggaagaggtaggtaaaaa	12	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182767184A>C	ENST00000431877.2	+	8	1583	c.1404A>C	c.(1402-1404)gaA>gaC	p.E468D	SSFA2_ENST00000428267.2_Missense_Mutation_p.E315D|SSFA2_ENST00000409001.1_Missense_Mutation_p.E468D|SSFA2_ENST00000320370.7_Missense_Mutation_p.E468D	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	468						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)			ACTCCTTCGAAATGGAAGAGG	0.368																																						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.(1402-1404)gaA>gaC		sperm specific antigen 2							60	59	59					2																	182767184		2012	4219	6231	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182767184A>C	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.1404A>C	2.37:g.182767184A>C	ENSP00000388731:p.Glu468Asp		Somatic				SSFA2_ENST00000320370.7_Missense_Mutation_p.E468D|SSFA2_ENST00000428267.2_Missense_Mutation_p.E315D|SSFA2_ENST00000409001.1_Missense_Mutation_p.E468D	p.E468D	NM_001130445.1	NP_001123917.1	WXS	Illumina GAIIx	Phase_I	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		8	1583	+			468					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.1404A>C	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	A	17.83	3.486045	0.63962	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.20200	2.33;2.09;2.32;2.34	5.58	0.201	0.15186	.	0.164332	0.52532	D	0.000066	T	0.39036	0.1063	M	0.72118	2.19	0.45087	D	0.998108	D;D;D;D	0.89917	1.0;0.998;0.998;0.998	D;D;D;D	0.83275	0.996;0.99;0.99;0.99	T	0.10268	-1.0637	10	0.48119	T	0.1	-20.9579	9.2318	0.37441	0.4729:0.0:0.5271:0.0	.	315;468;468;468	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	D	468;468;468;315	ENSP00000388731:E468D;ENSP00000314669:E468D;ENSP00000387319:E468D;ENSP00000409867:E315D	ENSP00000314669:E468D	E	+	3	2	SSFA2	182475429	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	0.951000	0.29135	0.154000	0.19237	-0.290000	0.09829	GAA		0.368	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		27	34	0	0	0	1	0	27	34					C	182767184	A	C	182767184	3	2	48	1	0	0	0	0	1	0	0	0	15198	11	1	4	1434	4	SSFA2	2	182767184	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	354768	182767184	60432189	755	5223										
PDE1A	5136	broad.mit.edu	37	chr2	183051307	183051307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttggctctactatgaaatCgatgaaacctacaaaagcca	7	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183051307C>T	ENST00000410103.1	-	13	1347	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	PDE1A_ENST00000536095.1_Missense_Mutation_p.D318N|PDE1A_ENST00000351439.5_Missense_Mutation_p.D406N|PDE1A_ENST00000331935.6_Missense_Mutation_p.D422N|PDE1A_ENST00000456212.1_Missense_Mutation_p.D422N|PDE1A_ENST00000409365.1_Missense_Mutation_p.D406N|PDE1A_ENST00000435564.1_Missense_Mutation_p.D422N|PDE1A_ENST00000358139.2_Missense_Mutation_p.D422N|PDE1A_ENST00000346717.4_Missense_Mutation_p.D388N	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	422	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	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)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.D422N(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	ACTATGAAATCGATGAAACCT	0.353																																						ENST00000435564.1																			2	Substitution - Missense(2)	p.D422N(2)	large_intestine(2)	endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(1264-1266)Gat>Aat		phosphodiesterase 1A, calmodulin-dependent							50	51	51					2																	183051307		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183051307C>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1264G>A	2.37:g.183051307C>T	ENSP00000387037:p.Asp422Asn		Somatic				PDE1A_ENST00000351439.5_Missense_Mutation_p.D406N|PDE1A_ENST00000346717.4_Missense_Mutation_p.D388N|PDE1A_ENST00000536095.1_Missense_Mutation_p.D318N|PDE1A_ENST00000456212.1_Missense_Mutation_p.D422N|PDE1A_ENST00000410103.1_Missense_Mutation_p.D422N|PDE1A_ENST00000409365.1_Missense_Mutation_p.D406N|PDE1A_ENST00000358139.2_Missense_Mutation_p.D422N|PDE1A_ENST00000331935.6_Missense_Mutation_p.D422N	p.D422N	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	WXS	Illumina GAIIx	Phase_I	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		12	1464	-			422			Catalytic (By similarity).		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.1264G>A	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585478	0.86748	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	D;D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.57	4.69	0.59074	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.88217	0.6377	L	0.49256	1.55	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;0.996;1.0;0.995	P;D;D;D;P	0.91635	0.879;0.999;0.944;0.999;0.876	D	0.89272	0.3605	10	0.87932	D	0	.	13.8299	0.63373	0.0:0.9264:0.0:0.0736	.	318;388;422;406;422	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	N	422;388;318;406;422;406;422;422;422	ENSP00000410309:D422N;ENSP00000329112:D388N;ENSP00000439938:D318N;ENSP00000386767:D406N;ENSP00000331574:D422N;ENSP00000309269:D406N;ENSP00000387037:D422N;ENSP00000350858:D422N;ENSP00000408874:D422N	ENSP00000331574:D422N	D	-	1	0	PDE1A	182759552	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.142000	0.77339	1.498000	0.48600	0.655000	0.94253	GAT		0.353	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			7	34	0	0	0	1	0	7	34					T	183051307	C	T	183051307	3	4	48	1	0	0	0	0	1	0	0	0	11642	884	31	1	433	1	PDE1A	2	183051307	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	284123	183051307	60148066	756	5224										
PDE1A	5136	broad.mit.edu	37	chr2	183070763	183070763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgattctcaaggacagagCgatcattatacaaaatggca	10	7	2	2	rs552582520		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183070763C>T	ENST00000410103.1	-	9	937	c.854G>A	c.(853-855)cGc>cAc	p.R285H	PDE1A_ENST00000536095.1_Missense_Mutation_p.R181H|PDE1A_ENST00000351439.5_Missense_Mutation_p.R269H|PDE1A_ENST00000331935.6_Missense_Mutation_p.R285H|PDE1A_ENST00000456212.1_Missense_Mutation_p.R285H|PDE1A_ENST00000409365.1_Missense_Mutation_p.R269H|PDE1A_ENST00000435564.1_Missense_Mutation_p.R285H|PDE1A_ENST00000358139.2_Missense_Mutation_p.R285H|PDE1A_ENST00000346717.4_Missense_Mutation_p.R251H	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	285	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	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)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AAGGACAGAGCGATCATTATA	0.358													C|||	1	0.000199681	0	0.0014	5008	,	,		16714	0		0	False		,,,				2504	0					ENST00000435564.1																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(853-855)cGc>cAc		phosphodiesterase 1A, calmodulin-dependent							84	78	80					2																	183070763		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183070763C>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.854G>A	2.37:g.183070763C>T	ENSP00000387037:p.Arg285His		Somatic				PDE1A_ENST00000351439.5_Missense_Mutation_p.R269H|PDE1A_ENST00000346717.4_Missense_Mutation_p.R251H|PDE1A_ENST00000536095.1_Missense_Mutation_p.R181H|PDE1A_ENST00000456212.1_Missense_Mutation_p.R285H|PDE1A_ENST00000410103.1_Missense_Mutation_p.R285H|PDE1A_ENST00000409365.1_Missense_Mutation_p.R269H|PDE1A_ENST00000358139.2_Missense_Mutation_p.R285H|PDE1A_ENST00000331935.6_Missense_Mutation_p.R285H	p.R285H	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	WXS	Illumina GAIIx	Phase_I	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		8	1054	-			285			Catalytic (By similarity).		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.854G>A	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600915	0.87055	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	D;D;D;D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	6.02	6.02	0.97574	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.89660	0.6779	M	0.78801	2.425	0.80722	D	1	P;P;P;P;P	0.52692	0.955;0.839;0.666;0.746;0.858	P;B;B;B;P	0.54706	0.759;0.347;0.351;0.139;0.531	D	0.89836	0.3999	10	0.66056	D	0.02	.	19.5352	0.95251	0.0:1.0:0.0:0.0	.	181;251;285;269;285	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	H	285;251;181;269;285;269;285;285;285	ENSP00000410309:R285H;ENSP00000329112:R251H;ENSP00000439938:R181H;ENSP00000386767:R269H;ENSP00000331574:R285H;ENSP00000309269:R269H;ENSP00000387037:R285H;ENSP00000350858:R285H;ENSP00000408874:R285H	ENSP00000331574:R285H	R	-	2	0	PDE1A	182779008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.070000	0.71220	2.850000	0.98022	0.650000	0.86243	CGC		0.358	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			14	22	0	0	0	1	0	14	22					T	183070763	C	T	183070763	3	4	48	1	0	0	0	0	1	0	0	0	11642	768	27	1	859	1	PDE1A	2	183070763	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	19456	183070763	60128610	757	5225										
DNAJC10	54431	broad.mit.edu	37	chr2	183621136	183621136	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagtctggatggttgatttCtattctccgtggtgtcatcc	11	8	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183621136C>A	ENST00000264065.7	+	18	2164	c.1749C>A	c.(1747-1749)ttC>ttA	p.F583L		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	583	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)			TGGTTGATTTCTATTCTCCGT	0.388																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.6																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(1747-1749)ttC>ttA		DnaJ (Hsp40) homolog, subfamily C, member 10							112	101	105					2																	183621136		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.chr2:183621136C>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.1749C>A	2.37:g.183621136C>A	ENSP00000264065:p.Phe583Leu		Somatic					p.F583L	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)		18	2164	+			583			Thioredoxin 3.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.1749C>A	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717417	0.89205	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.07688	3.17	6.17	3.02	0.34903	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.37572	-0.9700	10	0.72032	D	0.01	.	12.6598	0.56808	0.0:0.7931:0.0:0.2069	.	537;583	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	L	583;537	ENSP00000264065:F583L	ENSP00000264065:F583L	F	+	3	2	DNAJC10	183329381	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.825000	0.55730	0.942000	0.37525	-0.140000	0.14226	TTC		0.388	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		9	41	1	0	3.09899e-07	1	3.54467e-07	9	41					A	183621136	C	A	183621136	3	1	48	1	0	0	0	0	1	0	0	0	4631	912	32	2	1811	2	DNAJC10	2	183621136	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	550373	183621136	59578237	758	5226										
DNAJC10	54431	broad.mit.edu	37	chr2	183621186	183621186	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttaatgccagaatggaaaaGaatggcccgggtatagtaaa	11	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183621186G>T	ENST00000264065.7	+	18	2214	c.1799G>T	c.(1798-1800)aGa>aTa	p.R600I		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	600	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)			GAATGGAAAAGAATGGCCCGG	0.338																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.6																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(1798-1800)aGa>aTa		DnaJ (Hsp40) homolog, subfamily C, member 10							69	66	67					2																	183621186		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.chr2:183621186G>T		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.1799G>T	2.37:g.183621186G>T	ENSP00000264065:p.Arg600Ile		Somatic					p.R600I	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)		18	2214	+			600			Thioredoxin 3.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.1799G>T	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247653	0.95305	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.40225	1.04	6.17	6.17	0.99709	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.048674	0.64402	D	0.000001	T	0.56819	0.2011	L	0.49571	1.57	0.80722	D	1	P;D	0.56968	0.951;0.978	P;D	0.63703	0.807;0.917	T	0.54186	-0.8331	10	0.59425	D	0.04	.	14.4074	0.67090	0.0749:0.0:0.9251:0.0	.	554;600	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	I	600;554	ENSP00000264065:R600I	ENSP00000264065:R600I	R	+	2	0	DNAJC10	183329431	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.391000	0.73208	2.941000	0.99782	0.655000	0.94253	AGA		0.338	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		21	31	1	0	4.35082e-09	1	5.20082e-09	21	31					T	183621186	G	T	183621186	3	4	48	1	0	0	0	0	1	0	0	0	4631	942	33	2	1861	2	DNAJC10	2	183621186	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	50	183621186	59578187	759	5227										
NCKAP1	10787	broad.mit.edu	37	chr2	183821229	183821229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgagaagtcaaatattctCgtggggtaaaggtatgttcc	12	5	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183821229C>T	ENST00000361354.4	-	20	2486	c.2114G>A	c.(2113-2115)cGa>cAa	p.R705Q	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R711Q	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	705					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)			CAAATATTCTCGTGGGGTAAA	0.333																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(2131-2133)cGa>cAa		NCK-associated protein 1							107	107	107					2																	183821229		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183821229C>T	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2114G>A	2.37:g.183821229C>T	ENSP00000355348:p.Arg705Gln		Somatic				NCKAP1_ENST00000361354.3_Missense_Mutation_p.R705Q	p.R711Q	NM_205842.1	NP_995314.1	WXS	Illumina GAIIx	Phase_I	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		21	2890	-			705					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.2132G>A	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404240	0.96051	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.35973	1.28;1.28	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.83012	2.62	0.80722	D	1	D;D	0.64830	0.994;0.992	P;P	0.55713	0.782;0.675	T	0.66952	-0.5793	10	0.59425	D	0.04	-5.9989	17.4209	0.87515	0.0:1.0:0.0:0.0	.	705;711	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	Q	705;711	ENSP00000355348:R705Q;ENSP00000354251:R711Q	ENSP00000354251:R711Q	R	-	2	0	NCKAP1	183529474	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.747000	0.85070	2.100000	0.63781	0.650000	0.86243	CGA		0.333	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		25	36	0	0	0	1	0	25	36					T	183821229	C	T	183821229	3	4	48	1	0	0	0	0	1	0	0	0	10230	884	31	1	1320	1	NCKAP1	2	183821229	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	200043	183821229	59378144	760	5228										
NCKAP1	10787	broad.mit.edu	37	chr2	183845983	183845983	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtttttacctgcacgagttCattgaggacaacagcatcaa	8	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183845983C>A	ENST00000361354.4	-	13	1702	c.1330G>T	c.(1330-1332)Gaa>Taa	p.E444*	NCKAP1_ENST00000360982.2_Nonsense_Mutation_p.E450*	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	444					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)			TGCACGAGTTCATTGAGGACA	0.383																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(1348-1350)Gaa>Taa		NCK-associated protein 1							170	150	157					2																	183845983		2203	4300	6503	SO:0001587	stop_gained	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183845983C>A	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.1330G>T	2.37:g.183845983C>A	ENSP00000355348:p.Glu444*		Somatic				NCKAP1_ENST00000361354.3_Nonsense_Mutation_p.E444*	p.E450*	NM_205842.1	NP_995314.1	WXS	Illumina GAIIx	Phase_I	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		14	2106	-			444					O60329|Q53QN5|Q53S94|Q53Y35	Nonsense_Mutation	SNP	ENST00000361354.4	37	c.1348G>T	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	46	12.290448	0.99654	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-13.6286	18.2679	0.90057	0.0:1.0:0.0:0.0	.	.	.	.	X	444;450	.	ENSP00000354251:E450X	E	-	1	0	NCKAP1	183554228	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.684000	0.84104	2.392000	0.81423	0.555000	0.69702	GAA		0.383	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		23	39	1	0	3.62473e-10	1	4.42315e-10	23	39					A	183845983	C	A	183845983	4	1	48	1	0	0	0	0	0	1	0	0	10230	835	29	2	2132	2	NCKAP1	2	183845983	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	24754	183845983	59353390	761	5229										
ZNF804A	91752	broad.mit.edu	37	chr2	185798421	185798421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaggaaaaggcactccaacGcctgcacaagctggctgagc	11	13	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:185798421G>A	ENST00000302277.6	+	3	941	c.347G>A	c.(346-348)cGc>cAc	p.R116H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	116							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						GCACTCCAACGCCTGCACAAG	0.403																																						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.(346-348)cGc>cAc		zinc finger protein 804A							57	58	58					2																	185798421		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185798421G>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.347G>A	2.37:g.185798421G>A	ENSP00000303252:p.Arg116His		Somatic					p.R116H	NM_194250.1	NP_919226.1	WXS	Illumina GAIIx	Phase_I	Q7Z570	Z804A_HUMAN			3	941	+			116					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.347G>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	34	5.352850	0.95830	.	.	ENSG00000170396	ENST00000302277	T	0.20881	2.04	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000016	T	0.50446	0.1616	M	0.78456	2.415	0.53688	D	0.99997	D	0.89917	1.0	D	0.87578	0.998	T	0.53265	-0.8463	10	0.87932	D	0	-12.1902	18.3738	0.90428	0.0:0.0:1.0:0.0	.	116	Q7Z570	Z804A_HUMAN	H	116	ENSP00000303252:R116H	ENSP00000303252:R116H	R	+	2	0	ZNF804A	185506666	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.808000	0.99193	2.578000	0.87016	0.585000	0.79938	CGC		0.403	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		15	24	0	0	0	1	0	15	24					A	185798421	G	A	185798421	3	1	48	1	0	0	0	0	1	0	0	0	18185	1087	38	1	357	1	ZNF804A	2	185798421	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1952438	185798421	57400952	762	5230										
FSIP2	401024	broad.mit.edu	37	chr2	186672466	186672466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taactccacatcagtgtgtgGaagttgaaaacatcgttgaa	9	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:186672466G>A	ENST00000424728.1	+	17	18433	c.18433G>A	c.(18433-18435)Gaa>Aaa	p.E6145K	FSIP2_ENST00000343098.5_Missense_Mutation_p.E6234K			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6145										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCAGTGTGTGGAAGTTGAAAA	0.398																																						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.(18700-18702)Gaa>Aaa		fibrous sheath interacting protein 2							91	77	81					2																	186672466		1862	4102	5964	SO:0001583	missense	401024							g.chr2:186672466G>A	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18433G>A	2.37:g.186672466G>A	ENSP00000401306:p.Glu6145Lys		Somatic				FSIP2_ENST00000424728.1_Missense_Mutation_p.E6145K	p.E6234K	NM_173651.2	NP_775922.2	WXS	Illumina GAIIx	Phase_I					17	18700	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.18700G>A		.	.	.	.	.	.	.	.	.	.	G	14.92	2.680130	0.47886	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.62105	0.05;0.06	5.11	4.23	0.50019	.	0.108055	0.41396	D	0.000889	T	0.56934	0.2019	L	0.38175	1.15	0.29090	N	0.882133	.	.	.	.	.	.	T	0.58515	-0.7623	8	0.62326	D	0.03	.	9.3744	0.38275	0.0967:0.0:0.9033:0.0	.	.	.	.	K	6234;6145	ENSP00000344403:E6234K;ENSP00000401306:E6145K	ENSP00000344403:E6234K	E	+	1	0	FSIP2	186380711	1.000000	0.71417	0.569000	0.28460	0.287000	0.27160	3.257000	0.51500	1.385000	0.46445	0.591000	0.81541	GAA		0.398	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		8	54	0	0	0	1	0	8	54					A	186672466	G	A	186672466	3	1	48	1	0	0	0	0	1	0	0	0	6083	1175	41	3	18766	3	FSIP2	2	186672466	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	874045	186672466	56526907	763	5231										
ITGAV	3685	broad.mit.edu	37	chr2	187516777	187516777	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattttaaatcaagacaataAaacctgctcactgcctggaa	5	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:187516777A>C	ENST00000261023.3	+	15	1740	c.1466A>C	c.(1465-1467)aAa>aCa	p.K489T	ITGAV_ENST00000374907.3_Missense_Mutation_p.K453T|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.K443T	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	489					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)	CAAGACAATAAAACCTGCTCA	0.388																																					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.(1465-1467)aAa>aCa		integrin, alpha V							67	70	69					2																	187516777		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.chr2:187516777A>C		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.1466A>C	2.37:g.187516777A>C	ENSP00000261023:p.Lys489Thr		Somatic				AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.K443T|ITGAV_ENST00000374907.3_Missense_Mutation_p.K453T	p.K489T	NM_002210.3	NP_002201.1	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)	15	1740	+			489					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.1466A>C	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.219108	0.58560	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.53640	0.61;0.61;0.61	5.32	5.32	0.75619	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.83118	2.625	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.69142	0.925;0.962;0.956	T	0.76091	-0.3086	10	0.87932	D	0	.	15.5929	0.76550	1.0:0.0:0.0:0.0	.	443;453;489	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	T	489;453;443	ENSP00000261023:K489T;ENSP00000364042:K453T;ENSP00000404291:K443T	ENSP00000261023:K489T	K	+	2	0	ITGAV	187225022	1.000000	0.71417	0.953000	0.39169	0.745000	0.42441	7.702000	0.84576	2.129000	0.65627	0.533000	0.62120	AAA		0.388	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		4	11	0	0	0	1	0	4	11					C	187516777	A	C	187516777	3	2	48	1	0	0	0	0	1	0	0	0	7897	14	1	4	1575	4	ITGAV	2	187516777	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	844311	187516777	55682596	764	5232										
ZSWIM2	151112	broad.mit.edu	37	chr2	187702145	187702145	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagtttgctagagtttttgaAttcctccaaaatcagtttta	6	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:187702145A>C	ENST00000295131.2	-	5	670	c.631T>G	c.(631-633)Ttc>Gtc	p.F211V		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	211					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)			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)			GAGTTTTTGAATTCCTCCAAA	0.393																																						ENST00000295131.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(631-633)Ttc>Gtc		zinc finger, SWIM-type containing 2							115	113	114					2																	187702145		2203	4299	6502	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187702145A>C	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.631T>G	2.37:g.187702145A>C	ENSP00000295131:p.Phe211Val		Somatic					p.F211V	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)		5	670	-			211					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.631T>G	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.457262	0.26161	.	.	ENSG00000163012	ENST00000295131	D	0.86956	-2.19	5.97	5.97	0.96955	.	0.112791	0.40554	N	0.001076	D	0.83714	0.5314	L	0.45581	1.43	0.36772	D	0.883835	P	0.39480	0.675	B	0.38428	0.273	D	0.86830	0.2010	10	0.46703	T	0.11	-6.0732	13.9615	0.64182	1.0:0.0:0.0:0.0	.	211	Q8NEG5	ZSWM2_HUMAN	V	211	ENSP00000295131:F211V	ENSP00000295131:F211V	F	-	1	0	ZSWIM2	187410390	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	3.776000	0.55356	2.287000	0.76781	0.482000	0.46254	TTC		0.393	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		25	39	0	0	0	1	0	25	39					C	187702145	A	C	187702145	3	2	48	1	0	0	0	0	1	0	0	0	18256	101	4	4	1290	4	ZSWIM2	2	187702145	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	185368	187702145	55497228	765	5233										
TFPI	7035	broad.mit.edu	37	chr2	188331683	188331683	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcacatatttttaacaaaaaTttcttcatatgctattttca	1	7	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:188331683T>G	ENST00000233156.3	-	8	1189	c.895A>C	c.(895-897)Att>Ctt	p.I299L	AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.I299L|AC007319.1_ENST00000412276.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	299					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	TTAACAAAAATTTCTTCATAT	0.249																																						ENST00000233156.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9						c.(895-897)Att>Ctt		tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	Coagulation factor VIIa(DB00036)						27	30	29					2																	188331683		2155	4230	6385	SO:0001583	missense	7035				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr2:188331683T>G		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"extrinsic pathway inhibitor"	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.895A>C	2.37:g.188331683T>G	ENSP00000233156:p.Ile299Leu		Somatic				TFPI_ENST00000392365.1_Missense_Mutation_p.I299L|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA	p.I299L	NM_006287.4	NP_006278.1	WXS	Illumina GAIIx	Phase_I	P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)		8	1189	-			299					O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	37	c.895A>C	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	T	10.75	1.439414	0.25900	.	.	ENSG00000003436	ENST00000392365;ENST00000233156	T;T	0.55930	0.49;0.49	4.63	-0.621	0.11564	.	0.341919	0.28742	N	0.014285	T	0.45256	0.1333	M	0.61703	1.905	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.39057	-0.9632	10	0.56958	D	0.05	.	9.1757	0.37109	0.0:0.3463:0.0:0.6537	.	299	P10646	TFPI1_HUMAN	L	299	ENSP00000376172:I299L;ENSP00000233156:I299L	ENSP00000233156:I299L	I	-	1	0	TFPI	188039928	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.220000	0.09215	-0.645000	0.05458	-1.139000	0.01908	ATT		0.249	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		8	15	0	0	0	1	0	8	15					G	188331683	T	G	188331683	3	3	48	1	0	0	0	0	1	0	0	0	15823	1493	52	4	23	4	TFPI	2	188331683	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	629538	188331683	54867690	766	5234										
TFPI	7035	broad.mit.edu	37	chr2	188343453	188343453	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagaaagaacatggatgcatGaatgcagaaggcgttcagaa	12	5	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:188343453G>T	ENST00000233156.3	-	6	923				AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.H236N|TFPI_ENST00000392365.1_Intron|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000409676.1_Missense_Mutation_p.H236N	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)						blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	ATGGATGCATGAATGCAGAAG	0.353																																						ENST00000409676.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9						c.(706-708)Cat>Aat		tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	Coagulation factor VIIa(DB00036)						135	119	124					2																	188343453		2203	4300	6503	SO:0001627	intron_variant	7035				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr2:188343453G>T		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"extrinsic pathway inhibitor"	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.628+5397C>A	2.37:g.188343453G>T			Somatic				TFPI_ENST00000392365.1_Intron|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.H236N|TFPI_ENST00000233156.3_Intron	p.H236N			WXS	Illumina GAIIx	Phase_I	P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)		8	970	-			0			BPTI/Kunitz inhibitor 3.		O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	37	c.706C>A	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317028	0.40996	.	.	ENSG00000003436	ENST00000409676;ENST00000339091	T;T	0.65364	-0.15;-0.15	4.72	-1.79	0.07932	.	.	.	.	.	T	0.39517	0.1081	.	.	.	0.27663	N	0.947012	B	0.09022	0.002	B	0.09377	0.004	T	0.23154	-1.0196	8	0.39692	T	0.17	.	0.7846	0.01046	0.4442:0.1775:0.2004:0.1779	.	236	P10646-2	.	N	236	ENSP00000386344:H236N;ENSP00000342306:H236N	ENSP00000342306:H236N	H	-	1	0	TFPI	188051698	0.337000	0.24766	0.872000	0.34217	0.995000	0.86356	0.574000	0.23714	-0.234000	0.09782	0.557000	0.71058	CAT		0.353	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		11	16	1	0	0.0692343	1	0.0701576	11	16					T	188343453	G	T	188343453	1	4	48	0	1	0	0	0	0	0	0	0	15823	1290	45	2		2	TFPI	2	188343453	Intron	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	11770	188343453	54855920	767	5235										
TFPI	7035	broad.mit.edu	37	chr2	188361697	188361697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atataaattcttcgcactgtCgagtgaaaatattgaagaaa	7	5	1	3	rs137865208		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:188361697C>T	ENST00000233156.3	-	3	524	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.R77Q|TFPI_ENST00000392365.1_Missense_Mutation_p.R77Q|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000409676.1_Missense_Mutation_p.R77Q	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	77	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	TTCGCACTGTCGAGTGAAAAT	0.378																																						ENST00000233156.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9						c.(229-231)cGa>cAa		tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	Coagulation factor VIIa(DB00036)	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	82	84	83		230,230	-2.5	0	2	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TFPI	NM_001032281.2,NM_006287.4	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	77/252,77/305	188361697	1,13005	2203	4300	6503	SO:0001583	missense	7035				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr2:188361697C>T		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"extrinsic pathway inhibitor"	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.230G>A	2.37:g.188361697C>T	ENSP00000233156:p.Arg77Gln		Somatic				TFPI_ENST00000392365.1_Missense_Mutation_p.R77Q|TFPI_ENST00000409676.1_Missense_Mutation_p.R77Q|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.R77Q	p.R77Q	NM_006287.4	NP_006278.1	WXS	Illumina GAIIx	Phase_I	P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)		3	524	-			77			BPTI/Kunitz inhibitor 1.		O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	37	c.230G>A	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	C	7.764	0.705953	0.15172	0.0	1.16E-4	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055;ENST00000435414;ENST00000409676;ENST00000339091;ENST00000437725;ENST00000421427;ENST00000453013	T;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;0.41	5.62	-2.49	0.06403	Proteinase inhibitor I2, Kunitz metazoa (5);	0.788229	0.11998	N	0.509124	T	0.22322	0.0538	N	0.04787	-0.16	0.09310	N	1	B;B	0.21147	0.052;0.046	B;B	0.16289	0.015;0.008	T	0.26503	-1.0101	10	0.10377	T	0.69	.	6.5701	0.22533	0.1463:0.4963:0.0:0.3574	.	77;77	P10646-2;P10646	.;TFPI1_HUMAN	Q	77	ENSP00000376172:R77Q;ENSP00000233156:R77Q;ENSP00000397248:R77Q;ENSP00000409177:R77Q;ENSP00000386344:R77Q;ENSP00000342306:R77Q;ENSP00000388159:R77Q;ENSP00000408170:R77Q;ENSP00000394185:R77Q	ENSP00000233156:R77Q	R	-	2	0	TFPI	188069942	0.001000	0.12720	0.001000	0.08648	0.441000	0.31987	-0.108000	0.10857	-0.426000	0.07360	-0.482000	0.04802	CGA		0.378	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		16	36	0	0	0	1	0	16	36					T	188361697	C	T	188361697	3	4	48	1	0	0	0	0	1	0	0	0	15823	884	31	1	840	1	TFPI	2	188361697	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	18244	188361697	54837676	768	5236										
GULP1	51454	broad.mit.edu	37	chr2	189452618	189452618	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcagaaccttttgacccatTtaactgtggagcagcagatt	9	9	0	3	rs367867124		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:189452618T>G	ENST00000409580.1	+	12	1499	c.785T>G	c.(784-786)tTt>tGt	p.F262C	GULP1_ENST00000359135.3_Missense_Mutation_p.F262C|GULP1_ENST00000409830.1_Missense_Mutation_p.F262C|GULP1_ENST00000409805.1_Missense_Mutation_p.F159C|GULP1_ENST00000409843.1_Missense_Mutation_p.F262C|GULP1_ENST00000409609.1_Missense_Mutation_p.F262C			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	262					apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TTTGACCCATTTAACTGTGGA	0.368																																					Pancreas(178;563 2065 20199 42378 52815)	ENST00000409580.1																			0				endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13						c.(784-786)tTt>tGt		GULP, engulfment adaptor PTB domain containing 1		T	CYS/PHE	0,4406		0,0,2203	109	109	109		785	5.6	1	2		109	1,8599	1.2+/-3.3	0,1,4299	no	missense	GULP1	NM_016315.2	205	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	probably-damaging	262/305	189452618	1,13005	2203	4300	6503	SO:0001583	missense	51454				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	g.chr2:189452618T>G	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.785T>G	2.37:g.189452618T>G	ENSP00000386289:p.Phe262Cys		Somatic				GULP1_ENST00000409609.1_Missense_Mutation_p.F262C|GULP1_ENST00000409830.1_Missense_Mutation_p.F262C|GULP1_ENST00000409843.1_Missense_Mutation_p.F262C|GULP1_ENST00000359135.3_Missense_Mutation_p.F262C|GULP1_ENST00000409805.1_Missense_Mutation_p.F159C	p.F262C			WXS	Illumina GAIIx	Phase_I	Q9UBP9	GULP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)		12	1499	+			262					B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	ENST00000409580.1	37	c.785T>G	CCDS2295.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.2|24.2	4.502749|4.502749	0.85176|0.85176	0.0|0.0	1.16E-4|1.16E-4	ENSG00000144366|ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409609|ENST00000451191;ENST00000433052	T;T;T;T;T|.	0.52754|.	0.65;0.68;0.68;0.68;0.68|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75583|0.75583	0.3869|0.3869	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.91635|.	0.98;0.999;0.996;0.921|.	T|T	0.76793|0.76793	-0.2828|-0.2828	10|5	0.59425|.	D|.	0.04|.	-8.4066|-8.4066	14.9588|14.9588	0.71141|0.71141	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	159;86;262;262|.	E9PB86;Q59EC1;Q9UBP9;B8ZZ72|.	.;.;GULP1_HUMAN;.|.	C|V	262;262;159;262;262;262|87;147	ENSP00000387144:F262C;ENSP00000386732:F262C;ENSP00000352047:F262C;ENSP00000386289:F262C;ENSP00000386867:F262C|.	ENSP00000352047:F262C|.	F|L	+|+	2|1	0|2	GULP1|GULP1	189160863|189160863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.698000|7.698000	0.84413|0.84413	2.135000|2.135000	0.66039|0.66039	0.482000|0.482000	0.46254|0.46254	TTT|TTA		0.368	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315		17	36	0	0	0	1	0	17	36					G	189452618	T	G	189452618	3	3	48	1	0	0	0	0	1	0	0	0	6910	1841	64	4	819	4	GULP1	2	189452618	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1090921	189452618	53746755	769	5237										
ANKAR	150709	broad.mit.edu	37	chr2	190554573	190554573	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacactttgagaagaaaaaaGatatcagaagagggatagga	11	3	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:190554573G>T	ENST00000520309.1	+	3	1010	c.922G>T	c.(922-924)Gat>Tat	p.D308Y	ANKAR_ENST00000281412.6_Missense_Mutation_p.D72Y|ANKAR_ENST00000438402.2_Missense_Mutation_p.D308Y|ANKAR_ENST00000313581.4_Missense_Mutation_p.D308Y|ANKAR_ENST00000431575.2_Missense_Mutation_p.D237Y|ANKAR_ENST00000461516.1_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	308						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GAAGAAAAAAGATATCAGAAG	0.284																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(922-924)Gat>Tat		ankyrin and armadillo repeat containing							42	52	48					2																	190554573		2146	4245	6391	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190554573G>T	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.922G>T	2.37:g.190554573G>T	ENSP00000427882:p.Asp308Tyr		Somatic				ANKAR_ENST00000438402.2_Missense_Mutation_p.D308Y|ANKAR_ENST00000313581.4_Missense_Mutation_p.D308Y|ANKAR_ENST00000281412.6_Missense_Mutation_p.D72Y|ANKAR_ENST00000431575.2_Missense_Mutation_p.D237Y|ANKAR_ENST00000461516.1_3'UTR	p.D308Y	NM_144708.3	NP_653309.3	WXS	Illumina GAIIx	Phase_I	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		3	1010	+			308					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.922G>T	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884060	0.51908	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.44083	0.98;0.98;0.93;0.98;1.04	5.97	5.97	0.96955	.	0.346611	0.24942	N	0.034380	T	0.32526	0.0832	N	0.14661	0.345	0.43667	D	0.996096	P	0.44195	0.828	B	0.40101	0.319	T	0.25047	-1.0143	10	0.87932	D	0	-3.222	19.2102	0.93751	0.0:0.0:1.0:0.0	.	308	Q7Z5J8	ANKAR_HUMAN	Y	308;308;308;237;72	ENSP00000427882:D308Y;ENSP00000313513:D308Y;ENSP00000397243:D308Y;ENSP00000393043:D237Y;ENSP00000281412:D72Y	ENSP00000281412:D72Y	D	+	1	0	ANKAR	190262818	1.000000	0.71417	0.938000	0.37757	0.796000	0.44982	6.736000	0.74811	2.836000	0.97738	0.655000	0.94253	GAT		0.284	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		23	42	1	0	3.5997e-14	1	4.67138e-14	23	42					T	190554573	G	T	190554573	3	4	48	1	0	0	0	0	1	0	0	0	623	942	33	2	928	2	ANKAR	2	190554573	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1101955	190554573	52644800	770	5238										
MSTN	2660	broad.mit.edu	37	chr2	190922365	190922365	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgacctctaaaaacggattCtgtttgaaaaggaaagaaca	8	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:190922365C>T	ENST00000260950.4	-	3	880		c.e3-1		C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin						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)			AAAACGGATTCTGTTTGAAAA	0.358																																						ENST00000260950.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12						c.e3-1		myostatin							61	57	58					2																	190922365		2203	4299	6502	SO:0001630	splice_region_variant	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190922365C>T	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"growth differentiation factor 8"	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.748-1G>A	2.37:g.190922365C>T			Somatic				C2orf88_ENST00000478197.1_Intron		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)		3	880	-								A1C2J7|A1C2K0|Q6B0H2	Splice_Site	SNP	ENST00000260950.4	37		CCDS2303.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291501	0.59976	.	.	ENSG00000138379	ENST00000260950	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7537	0.96281	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MSTN	190630610	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.776000	0.85560	2.736000	0.93811	0.591000	0.81541	.		0.358	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259	Intron	13	43	0	0	0	1	0	13	43					T	190922365	C	T	190922365	5	4	48	1	0	0	0	0	0	0	1	0	9902	927	32	3	384	3	MSTN	2	190922365	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	367792	190922365	52277008	771	5239										
MYO1B	4430	broad.mit.edu	37	chr2	192225402	192225402	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaacagccaagaggtgaaaGaaacttccatgtgttctatc	8	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:192225402G>T	ENST00000392318.3	+	8	855	c.608G>T	c.(607-609)aGa>aTa	p.R203I	MYO1B_ENST00000339514.4_Missense_Mutation_p.R203I|MYO1B_ENST00000392316.1_Missense_Mutation_p.R203I|MYO1B_ENST00000304164.4_Missense_Mutation_p.R203I	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	203	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGAGGTGAAAGAAACTTCCAT	0.398																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(607-609)aGa>aTa		myosin IB							214	212	213					2																	192225402		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192225402G>T	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.608G>T	2.37:g.192225402G>T	ENSP00000376132:p.Arg203Ile		Somatic				MYO1B_ENST00000304164.4_Missense_Mutation_p.R203I|MYO1B_ENST00000339514.4_Missense_Mutation_p.R203I|MYO1B_ENST00000392316.1_Missense_Mutation_p.R203I	p.R203I	NM_001130158.1	NP_001123630.1	WXS	Illumina GAIIx	Phase_I	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		8	855	+			203			Myosin head-like.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.608G>T	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821056	0.90873	.	.	ENSG00000128641	ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000451437;ENST00000392316	D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35	5.71	4.83	0.62350	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	H	0.99143	4.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98521	1.0623	10	0.87932	D	0	.	13.4272	0.61032	0.074:0.0:0.926:0.0	.	203;203	O43795;O43795-2	MYO1B_HUMAN;.	I	203	ENSP00000341903:R203I;ENSP00000376132:R203I;ENSP00000306382:R203I;ENSP00000388140:R203I;ENSP00000376130:R203I	ENSP00000306382:R203I	R	+	2	0	MYO1B	191933647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.216000	0.77974	2.681000	0.91329	0.655000	0.94253	AGA		0.398	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		39	94	1	0	1.47244e-24	1	2.06782e-24	39	94					T	192225402	G	T	192225402	3	4	48	1	0	0	0	0	1	0	0	0	10078	942	33	2	634	2	MYO1B	2	192225402	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1303037	192225402	50973971	772	5240										
SLC39A10	57181	broad.mit.edu	37	chr2	196545041	196545041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttaacaaacttgggccttgGagagagaaaagtagttgaga	12	4	0	3	rs551969264		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196545041G>A	ENST00000409086.3	+	2	550	c.275G>A	c.(274-276)gGa>gAa	p.G92E	SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Missense_Mutation_p.G92E	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	92					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)			TTGGGCCTTGGAGAGAGAAAA	0.338													G|||	1	0.000199681	8e-04	0	5008	,	,		19652	0		0	False		,,,				2504	0					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.(274-276)gGa>gAa		solute carrier family 39 (zinc transporter), member 10							74	77	76					2																	196545041		2203	4300	6503	SO:0001583	missense	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196545041G>A		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.275G>A	2.37:g.196545041G>A	ENSP00000386766:p.Gly92Glu		Somatic				SLC39A10_ENST00000359634.5_Missense_Mutation_p.G92E|SLC39A10_ENST00000541054.1_Intron	p.G92E	NM_001127257.1	NP_001120729.1	WXS	Illumina GAIIx	Phase_I	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		2	550	+			92					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	c.275G>A	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218528	0.79464	.	.	ENSG00000196950	ENST00000458054;ENST00000409086;ENST00000359634;ENST00000418005	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63319	-0.6664	10	0.41790	T	0.15	.	18.2992	0.90158	0.0:0.0:1.0:0.0	.	92	Q9ULF5	S39AA_HUMAN	E	92	ENSP00000389640:G92E;ENSP00000386766:G92E;ENSP00000352655:G92E;ENSP00000409272:G92E	ENSP00000352655:G92E	G	+	2	0	SLC39A10	196253286	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.777000	0.91781	2.557000	0.86248	0.655000	0.94253	GGA		0.338	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		37	43	0	0	0	1	0	37	43					A	196545041	G	A	196545041	3	1	48	1	0	0	0	0	1	0	0	0	14628	1174	41	3	277	3	SLC39A10	2	196545041	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4319639	196545041	46654332	773	5241										
DNAH7	56171	broad.mit.edu	37	chr2	196722256	196722256	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atattgtccttgtcatattcAtgaagtgactgcagaaacct	7	8	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196722256A>G	ENST00000312428.6	-	44	8359	c.8259T>C	c.(8257-8259)caT>caC	p.H2753H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2753	Stalk. {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						TGTCATATTCATGAAGTGACT	0.368																																						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.(8257-8259)caT>caC		dynein, axonemal, heavy chain 7							89	85	86					2																	196722256		1820	4073	5893	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196722256A>G	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.8259T>C	2.37:g.196722256A>G			Somatic					p.H2753H	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	Q8WXX0	DYH7_HUMAN			44	8359	-			2753			Stalk (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.8259T>C	CCDS42794.1																																																																																				0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	48	0	0	0	1	0	4	48					G	196722256	A	G	196722256	2	3	48	1	0	0	0	0	0	0	0	1	4608	214	8	4		4	DNAH7	2	196722256	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	177215	196722256	46477117	774	5242										
DNAH7	56171	broad.mit.edu	37	chr2	196825183	196825183	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgccttttcaagagaatattCtttgctagctgcttcactaa	6	10	3	1	rs376917562		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196825183C>A	ENST00000312428.6	-	18	2792	c.2692G>T	c.(2692-2694)Gaa>Taa	p.E898*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	898	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						AGAGAATATTCTTTGCTAGCT	0.393																																						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.(2692-2694)Gaa>Taa		dynein, axonemal, heavy chain 7							121	118	119					2																	196825183		1872	4109	5981	SO:0001587	stop_gained	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825183C>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.2692G>T	2.37:g.196825183C>A	ENSP00000311273:p.Glu898*		Somatic					p.E898*	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	Q8WXX0	DYH7_HUMAN			18	2792	-			898			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	c.2692G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	39	7.450699	0.98292	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7123	0.96100	0.0:1.0:0.0:0.0	.	.	.	.	X	898	.	ENSP00000311273:E898X	E	-	1	0	DNAH7	196533428	1.000000	0.71417	0.910000	0.35882	0.352000	0.29268	4.076000	0.57591	2.661000	0.90470	0.585000	0.79938	GAA		0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		33	77	1	0	4.74835e-14	1	6.14782e-14	33	77					A	196825183	C	A	196825183	4	1	48	1	0	0	0	0	0	1	0	0	4608	922	32	2	9574	2	DNAH7	2	196825183	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	102927	196825183	46374190	775	5243										
DNAH7	56171	broad.mit.edu	37	chr2	196834764	196834764	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atctccaaatgaataaaattCttctgattgcttagcataac	4	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196834764C>A	ENST00000312428.6	-	17	2213	c.2113G>T	c.(2113-2115)Gaa>Taa	p.E705*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	705	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						GAATAAAATTCTTCTGATTGC	0.338																																						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.(2113-2115)Gaa>Taa		dynein, axonemal, heavy chain 7							90	85	86					2																	196834764		1835	4074	5909	SO:0001587	stop_gained	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196834764C>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.2113G>T	2.37:g.196834764C>A	ENSP00000311273:p.Glu705*		Somatic					p.E705*	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	Q8WXX0	DYH7_HUMAN			17	2213	-			705			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	c.2113G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	38	6.677470	0.97755	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.51	5.51	0.81932	.	0.058793	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	19.3732	0.94498	0.0:1.0:0.0:0.0	.	.	.	.	X	705	.	ENSP00000311273:E705X	E	-	1	0	DNAH7	196543009	1.000000	0.71417	0.985000	0.45067	0.174000	0.22865	5.282000	0.65615	2.759000	0.94783	0.591000	0.81541	GAA		0.338	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		10	33	1	0	3.86212e-05	1	4.21111e-05	10	33					A	196834764	C	A	196834764	4	1	48	1	0	0	0	0	0	1	0	0	4608	922	32	2	10157	2	DNAH7	2	196834764	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	9581	196834764	46364609	776	5244										
DNAH7	56171	broad.mit.edu	37	chr2	196912086	196912086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacaacttacataatgacatTaacaagagtacttctaaagt	4	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196912086T>C	ENST00000312428.6	-	5	488	c.388A>G	c.(388-390)Aat>Gat	p.N130D	DNAH7_ENST00000410072.1_Missense_Mutation_p.N130D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	130	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						ATAATGACATTAACAAGAGTA	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.(388-390)Aat>Gat		dynein, axonemal, heavy chain 7							146	140	142					2																	196912086		1850	4089	5939	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196912086T>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.388A>G	2.37:g.196912086T>C	ENSP00000311273:p.Asn130Asp		Somatic				DNAH7_ENST00000410072.1_Missense_Mutation_p.N130D	p.N130D	NM_018897.2	NP_061720.2	WXS	Illumina GAIIx	Phase_I	Q8WXX0	DYH7_HUMAN			5	488	-			130			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.388A>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	7.885	0.731124	0.15507	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446;ENST00000427816	T;T	0.21932	1.98;2.81	5.2	5.2	0.72013	.	0.270585	0.34777	N	0.003686	T	0.13884	0.0336	L	0.29908	0.895	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.24512	-1.0158	10	0.09843	T	0.71	.	11.3876	0.49796	0.0:0.0:0.0:1.0	.	130	Q8WXX0	DYH7_HUMAN	D	130;130;130;105	ENSP00000311273:N130D;ENSP00000386260:N130D	ENSP00000311273:N130D	N	-	1	0	DNAH7	196620331	0.926000	0.31397	0.132000	0.22025	0.024000	0.10985	3.701000	0.54793	2.179000	0.69175	0.482000	0.46254	AAT		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		12	52	0	0	0	1	0	12	52					C	196912086	T	C	196912086	3	2	48	1	0	0	0	0	1	0	0	0	4608	1754	61	4	11930	4	DNAH7	2	196912086	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	77322	196912086	46287287	777	5245										
STK17B	9262	broad.mit.edu	37	chr2	197002227	197002227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggtaatgagtcatcgaaacGaaatcttttggaaaccatgc	10	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197002227G>A	ENST00000263955.4	-	8	1349	c.1063C>T	c.(1063-1065)Cgt>Tgt	p.R355C	STK17B_ENST00000409228.1_Missense_Mutation_p.R355C	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	355					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TCATCGAAACGAAATCTTTTG	0.373																																						ENST00000263955.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15						c.(1063-1065)Cgt>Tgt		serine/threonine kinase 17b							132	139	137					2																	197002227		2203	4300	6503	SO:0001583	missense	9262				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:197002227G>A	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"death-associated protein kinase-related 2"	604727	"serine/threonine kinase 17b (apoptosis-inducing)"			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.1063C>T	2.37:g.197002227G>A	ENSP00000263955:p.Arg355Cys		Somatic				STK17B_ENST00000409228.1_Missense_Mutation_p.R355C	p.R355C	NM_004226.3	NP_004217.1	WXS	Illumina GAIIx	Phase_I	O94768	ST17B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.141)		8	1349	-			355						Missense_Mutation	SNP	ENST00000263955.4	37	c.1063C>T	CCDS2315.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034424	0.75617	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	T;T	0.69685	-0.42;-0.42	4.99	4.99	0.66335	.	0.000000	0.49305	D	0.000154	T	0.71837	0.3387	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.75690	-0.3230	10	0.87932	D	0	.	16.6384	0.85065	0.0:0.0:1.0:0.0	.	355	O94768	ST17B_HUMAN	C	355	ENSP00000263955:R355C;ENSP00000386853:R355C	ENSP00000263955:R355C	R	-	1	0	STK17B	196710472	1.000000	0.71417	0.996000	0.52242	0.763000	0.43281	4.546000	0.60705	2.605000	0.88082	0.655000	0.94253	CGT		0.373	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2			17	44	0	0	0	1	0	17	44					A	197002227	G	A	197002227	3	1	48	1	0	0	0	0	1	0	0	0	15306	1058	37	1	59	1	STK17B	2	197002227	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	90141	197002227	46197146	778	5246										
HECW2	57520	broad.mit.edu	37	chr2	197183699	197183699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaggagctgtcagcgcattCcaggtcactctctccctcag	10	15	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197183699C>T	ENST00000260983.3	-	9	2097	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	HECW2_ENST00000409111.1_Missense_Mutation_p.E283K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	639					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						TCAGCGCATTCCAGGTCACTC	0.587																																						ENST00000260983.2																			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.(1915-1917)Gaa>Aaa		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							98	75	83					2																	197183699		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197183699C>T	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.1915G>A	2.37:g.197183699C>T	ENSP00000260983:p.Glu639Lys		Somatic				HECW2_ENST00000409111.1_Missense_Mutation_p.E283K	p.E639K	NM_020760.1	NP_065811.1	WXS	Illumina GAIIx	Phase_I	Q9P2P5	HECW2_HUMAN			9	2097	-			639					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1915G>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407475	0.62399	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.34072	1.38;1.42	5.4	5.4	0.78164	.	0.399136	0.25241	N	0.032084	T	0.27419	0.0673	N	0.19112	0.55	0.40758	D	0.982972	B	0.26635	0.155	B	0.18263	0.021	T	0.07927	-1.0747	10	0.59425	D	0.04	.	17.5244	0.87795	0.0:1.0:0.0:0.0	.	639	Q9P2P5	HECW2_HUMAN	K	283;639	ENSP00000386775:E283K;ENSP00000260983:E639K	ENSP00000260983:E639K	E	-	1	0	HECW2	196891944	1.000000	0.71417	0.998000	0.56505	0.880000	0.50808	5.154000	0.64894	2.813000	0.96785	0.561000	0.74099	GAA		0.587	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		12	31	0	0	0	1	0	12	31					T	197183699	C	T	197183699	3	4	48	1	0	0	0	0	1	0	0	0	7052	864	30	3	2887	3	HECW2	2	197183699	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	181472	197183699	46015674	779	5247										
HECW2	57520	broad.mit.edu	37	chr2	197208479	197208479	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatcccagaagttggctggaGaattctcatctagaaaaacc	8	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197208479G>T	ENST00000260983.3	-	3	484	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	101					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						GTTGGCTGGAGAATTCTCATC	0.378																																						ENST00000260983.2																			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.(301-303)tCt>tAt		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							117	130	125					2																	197208479		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197208479G>T	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.302C>A	2.37:g.197208479G>T	ENSP00000260983:p.Ser101Tyr		Somatic				HECW2_ENST00000409111.1_5'UTR	p.S101Y	NM_020760.1	NP_065811.1	WXS	Illumina GAIIx	Phase_I	Q9P2P5	HECW2_HUMAN			3	484	-			101					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.302C>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156538	0.57259	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.38560	1.13;1.13;1.13	6.06	6.06	0.98353	.	0.119735	0.64402	D	0.000019	T	0.46698	0.1406	L	0.40543	1.245	0.40731	D	0.982748	D	0.52996	0.957	P	0.53035	0.716	T	0.39210	-0.9625	10	0.51188	T	0.08	.	12.6846	0.56940	0.0759:0.0:0.9241:0.0	.	101	Q9P2P5	HECW2_HUMAN	Y	101	ENSP00000260983:S101Y;ENSP00000409918:S101Y;ENSP00000395770:S101Y	ENSP00000260983:S101Y	S	-	2	0	HECW2	196916724	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.516000	0.67055	2.882000	0.98803	0.655000	0.94253	TCT		0.378	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		57	77	1	0	2.17126e-26	1	3.07221e-26	57	77					T	197208479	G	T	197208479	3	4	48	1	0	0	0	0	1	0	0	0	7052	942	33	2	4524	2	HECW2	2	197208479	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	24780	197208479	45990894	780	5248										
GTF3C3	9330	broad.mit.edu	37	chr2	197639893	197639893	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgctgtctgatattttgtctCtcgatactttaataagataa	6	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197639893C>T	ENST00000263956.3	-	13	1867	c.1778G>A	c.(1777-1779)aGa>aAa	p.R593K		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	593					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)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TATTTTGTCTCTCGATACTTT	0.343																																						ENST00000263956.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1777-1779)aGa>aAa		general transcription factor IIIC, polypeptide 3, 102kDa							111	107	108					2																	197639893		2203	4300	6503	SO:0001583	missense	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197639893C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"General transcription factors", "Tetratricopeptide (TTC) repeat domain containing"	4666	protein-coding gene	gene with protein product		604888	"general transcription factor IIIC, polypeptide 3 (102kD)"			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1778G>A	2.37:g.197639893C>T	ENSP00000263956:p.Arg593Lys		Somatic					p.R593K	NM_012086.4	NP_036218.1	WXS	Illumina GAIIx	Phase_I	Q9Y5Q9	TF3C3_HUMAN			13	1867	-			593					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	c.1778G>A	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965152	0.92855	.	.	ENSG00000119041	ENST00000263956;ENST00000435252	T	0.46063	0.88	5.2	5.2	0.72013	.	0.201087	0.47093	D	0.000244	T	0.28699	0.0711	N	0.24115	0.695	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.14980	-1.0453	10	0.02654	T	1	-11.2641	18.9309	0.92564	0.0:1.0:0.0:0.0	.	593	Q9Y5Q9	TF3C3_HUMAN	K	593;116	ENSP00000263956:R593K	ENSP00000263956:R593K	R	-	2	0	GTF3C3	197348138	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.821000	0.69257	2.699000	0.92147	0.655000	0.94253	AGA		0.343	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			10	19	0	0	0	1	0	10	19					T	197639893	C	T	197639893	3	4	48	1	0	0	0	0	1	0	0	0	6883	913	32	3	906	3	GTF3C3	2	197639893	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	431414	197639893	45559480	781	5249										
ANKRD44	91526	broad.mit.edu	37	chr2	197954686	197954686	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttacttacccgatgataacaActttctgcagcagtcagagt	7	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197954686A>G	ENST00000328737.2	-	11	1172	c.1096T>C	c.(1096-1098)Ttg>Ctg	p.L366L	ANKRD44_ENST00000409153.1_Silent_p.L391L|ANKRD44_ENST00000450567.1_Silent_p.L366L|ANKRD44_ENST00000337207.5_Silent_p.L366L|ANKRD44_ENST00000539527.1_Silent_p.L319L|ANKRD44_ENST00000282272.8_Silent_p.L383L|ANKRD44_ENST00000477852.1_5'Flank			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	391										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)			GATGATAACAACTTTCTGCAG	0.458																																						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.(1096-1098)Ttg>Ctg		ankyrin repeat domain 44							121	107	112					2																	197954686		2203	4300	6503	SO:0001819	synonymous_variant	91526						protein binding	g.chr2:197954686A>G	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1096T>C	2.37:g.197954686A>G			Somatic				ANKRD44_ENST00000409153.1_Silent_p.L391L|ANKRD44_ENST00000337207.5_Silent_p.L366L|ANKRD44_ENST00000450567.1_Silent_p.L366L|ANKRD44_ENST00000282272.8_Silent_p.L383L|ANKRD44_ENST00000539527.1_Silent_p.L319L	p.L366L			WXS	Illumina GAIIx	Phase_I	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		11	1172	-			391					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	ENST00000328737.2	37	c.1096T>C																																																																																					0.458	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		20	47	0	0	0	1	0	20	47					G	197954686	A	G	197954686	2	3	48	1	0	0	0	0	0	0	0	1	672	40	2	4		4	ANKRD44	2	197954686	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	314793	197954686	45244687	782	5250										
HSPD1	3329	broad.mit.edu	37	chr2	198359410	198359411	+	Frame_Shift_Ins	INS	-	-	T													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgacaccctttcttccaacINSttttttcattgcatcagaga							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:198359410_198359411insT	ENST00000388968.3	-	5	843_844	c.576_577insA	c.(574-579)aaagttfs	p.V193fs	HSPD1_ENST00000345042.2_Frame_Shift_Ins_p.V193fs	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	193					'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)			TTTCTTCCAACTTTTTTCATTG	0.327																																						ENST00000388968.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17						c.(574-579)aattggfs		heat shock 60kDa protein 1 (chaperonin)																																				SO:0001589	frameshift_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.chr2:198359410_198359411insT	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.577dupA	2.37:g.198359416_198359416dupT	ENSP00000373620:p.Val193fs		Somatic				HSPD1_ENST00000345042.2_Frame_Shift_Ins_p.NW192fs	p.NW192fs	NM_002156.4	NP_002147.2	WXS	Illumina GAIIx	Phase_I	P10809	CH60_HUMAN	Epithelial(96;0.225)		5	843_844	-			192					B2R5M6|B7Z712|Q38L19|Q9UCR6	Frame_Shift_Ins	INS	ENST00000388968.3	37	c.576_577insA	CCDS33357.1																																																																																				0.327	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		15	38						15	38	---	---	---	---	T	198359411	-	T	198359410	7	5	48	1	0	1	1	0	0	0	0	0	7437	565	20	0	1176	0	HSPD1	2	198359410	Frame_Shift_Ins	INS	-	TCGA-ND-A4WC-01A-21D-A28R-08	404724	198359410	44839963	783	5251										
PLCL1	5334	broad.mit.edu	37	chr2	198950849	198950849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagaatggggaagaaagttCgggaatataccatgctcagg	14	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:198950849C>T	ENST00000428675.1	+	2	3006	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W	PLCL1_ENST00000437704.2_Missense_Mutation_p.R772W	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	870					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAAGAAAGTTCGGGAATATAC	0.418																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2608-2610)Cgg>Tgg		phospholipase C-like 1	Quinacrine(DB01103)						94	80	85					2																	198950849		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950849C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2608C>T	2.37:g.198950849C>T	ENSP00000402861:p.Arg870Trp		Somatic				PLCL1_ENST00000437704.2_Missense_Mutation_p.R772W	p.R870W	NM_006226.3	NP_006217.3	WXS	Illumina GAIIx	Phase_I	Q15111	PLCL1_HUMAN			2	3006	+			870					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2608C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580704	0.46006	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.20598	2.06;2.09	5.41	4.47	0.54385	.	0.000000	0.56097	D	0.000023	T	0.44891	0.1315	M	0.83953	2.67	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.65140	0.932;0.932	T	0.39251	-0.9623	9	.	.	.	.	11.384	0.49773	0.3442:0.6558:0.0:0.0	.	870;796	Q15111;B4DYZ4	PLCL1_HUMAN;.	W	870;772	ENSP00000402861:R870W;ENSP00000414138:R772W	.	R	+	1	2	PLCL1	198659094	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.613000	0.46351	2.814000	0.96858	0.591000	0.81541	CGG		0.418	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		16	43	0	0	0	1	0	16	43					T	198950849	C	T	198950849	3	4	48	1	0	0	0	0	1	0	0	0	12048	875	31	1	2614	1	PLCL1	2	198950849	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	591439	198950849	44248524	784	5252										
SATB2	23314	broad.mit.edu	37	chr2	200193516	200193516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctctcatcctggtagatgcGatctcgctccacttctggca	8	15	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:200193516G>A	ENST00000417098.1	-	8	2107	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C	RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000457245.1_Missense_Mutation_p.R431C|SATB2_ENST00000443023.1_Missense_Mutation_p.R372C|SATB2_ENST00000260926.5_Missense_Mutation_p.R431C|SATB2_ENST00000428695.1_Missense_Mutation_p.R313C	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	431					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						TGGTAGATGCGATCTCGCTCC	0.562																																					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.(1114-1116)Cgc>Tgc		SATB homeobox 2							130	112	118					2																	200193516		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200193516G>A	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.1291C>T	2.37:g.200193516G>A	ENSP00000401112:p.Arg431Cys		Somatic				RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000417098.1_Missense_Mutation_p.R431C|SATB2_ENST00000428695.1_Missense_Mutation_p.R313C|SATB2_ENST00000260926.5_Missense_Mutation_p.R431C|SATB2_ENST00000457245.1_Missense_Mutation_p.R431C	p.R372C			WXS	Illumina GAIIx	Phase_I	Q9UPW6	SATB2_HUMAN			7	2579	-			431					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1114C>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936441	0.92458	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.53857	0.61;0.62;0.61;0.6;0.61	4.98	4.98	0.66077	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.70561	0.3238	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.72805	-0.4182	10	0.87932	D	0	-13.8548	18.8143	0.92071	0.0:0.0:1.0:0.0	.	313;431	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	C	431;372;431;313;431	ENSP00000401112:R431C;ENSP00000388764:R372C;ENSP00000260926:R431C;ENSP00000388581:R313C;ENSP00000405420:R431C	ENSP00000260926:R431C	R	-	1	0	SATB2	199901761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.747000	0.94245	0.650000	0.86243	CGC		0.562	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		13	21	0	0	0	1	0	13	21					A	200193516	G	A	200193516	3	1	48	1	0	0	0	0	1	0	0	0	13869	1058	37	1	926	1	SATB2	2	200193516	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1242667	200193516	43005857	785	5253										
SGOL2	151246	broad.mit.edu	37	chr2	201434523	201434523	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttatcaactcaggataattCggaagtgttatttcttaaag	7	5	3	0	rs201953512		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:201434523C>T	ENST00000357799.4	+	6	709	c.611C>T	c.(610-612)tCg>tTg	p.S204L	SGOL2_ENST00000409203.3_Missense_Mutation_p.S204L	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)	204					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)				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						CAGGATAATTCGGAAGTGTTA	0.318													C|||	1	0.000199681	8e-04	0	5008	,	,		19039	0		0	False		,,,				2504	0					ENST00000357799.4																			0				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.(610-612)tCg>tTg		shugoshin-like 2 (S. pombe)		C	LEU/SER,LEU/SER,LEU/SER	0,3646		0,0,1823	111	108	109		611,611,611	1.6	0	2		109	1,8139		0,1,4069	yes	missense,missense,missense	SGOL2	NM_152524.5,NM_001160046.1,NM_001160033.1	145,145,145	0,1,5892	TT,TC,CC		0.0123,0.0,0.0085	benign,benign,benign	204/1266,204/1262,204/1261	201434523	1,11785	1823	4070	5893	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201434523C>T	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.611C>T	2.37:g.201434523C>T	ENSP00000350447:p.Ser204Leu		Somatic				SGOL2_ENST00000409203.3_Missense_Mutation_p.S204L	p.S204L	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			6	709	+			204					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.611C>T	CCDS42796.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.159	-1.083582	0.01888	0.0	1.23E-4	ENSG00000163535	ENST00000357799;ENST00000409203	T;T	0.13089	2.62;2.62	5.31	1.59	0.23543	.	0.488226	0.17333	N	0.178046	T	0.02193	0.0068	N	0.00182	-1.905	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.44726	-0.9309	10	0.02654	T	1	0.0078	7.1716	0.25722	0.0:0.266:0.0:0.734	.	204;204;204;204	B7Z7S9;Q562F6-2;Q562F6;Q562F6-3	.;.;SGOL2_HUMAN;.	L	204	ENSP00000350447:S204L;ENSP00000386249:S204L	ENSP00000350447:S204L	S	+	2	0	SGOL2	201142768	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	0.434000	0.21494	0.466000	0.27193	-0.385000	0.06624	TCG		0.318	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		16	53	0	0	0	1	0	16	53					T	201434523	C	T	201434523	3	4	48	1	0	0	0	0	1	0	0	0	14232	893	31	1	629	1	SGOL2	2	201434523	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1241007	201434523	41764850	786	5254										
SGOL2	151246	broad.mit.edu	37	chr2	201436810	201436810	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaccaaagataatggaaatTtatgtgattatgggacccac	8	8	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:201436810T>G	ENST00000357799.4	+	7	1839	c.1741T>G	c.(1741-1743)Tta>Gta	p.L581V		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)	581					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)				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						TAATGGAAATTTATGTGATTA	0.328																																						ENST00000357799.4																			0				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.(1741-1743)Tta>Gta		shugoshin-like 2 (S. pombe)							57	57	57					2																	201436810		1827	4076	5903	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201436810T>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1741T>G	2.37:g.201436810T>G	ENSP00000350447:p.Leu581Val		Somatic					p.L581V	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	1839	+			581					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.1741T>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.100919	0.37048	.	.	ENSG00000163535	ENST00000357799	T	0.11821	2.74	5.25	-3.1	0.05315	.	0.606071	0.13448	N	0.387151	T	0.19927	0.0479	L	0.46157	1.445	0.09310	N	1	D;D;B	0.71674	0.998;0.998;0.312	D;D;B	0.83275	0.996;0.996;0.064	T	0.14839	-1.0458	10	0.25751	T	0.34	1.1389	4.3312	0.11064	0.0879:0.1993:0.4507:0.2621	.	581;581;581	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	V	581	ENSP00000350447:L581V	ENSP00000350447:L581V	L	+	1	2	SGOL2	201145055	0.004000	0.15560	0.021000	0.16686	0.968000	0.65278	-0.382000	0.07408	-0.345000	0.08325	0.477000	0.44152	TTA		0.328	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		24	52	0	0	0	1	0	24	52					G	201436810	T	G	201436810	3	3	48	1	0	0	0	0	1	0	0	0	14232	1838	64	4	1763	4	SGOL2	2	201436810	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2287	201436810	41762563	787	5255										
SGOL2	151246	broad.mit.edu	37	chr2	201437472	201437472	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caacctgcttgtcaaaatgaTtcaaaaataggtaagaagcc	7	8	2	2	rs201366210		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:201437472T>G	ENST00000357799.4	+	7	2501	c.2403T>G	c.(2401-2403)gaT>gaG	p.D801E		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)	801					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)				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						GTCAAAATGATTCAAAAATAG	0.348																																						ENST00000357799.4																			0				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.(2401-2403)gaT>gaG		shugoshin-like 2 (S. pombe)							75	70	71					2																	201437472		1835	4077	5912	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437472T>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2403T>G	2.37:g.201437472T>G	ENSP00000350447:p.Asp801Glu		Somatic					p.D801E	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	2501	+			801					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.2403T>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.368009	0.00209	.	.	ENSG00000163535	ENST00000357799	T	0.12465	2.68	4.91	-2.36	0.06663	.	1.069170	0.07278	N	0.870355	T	0.03263	0.0095	N	0.02202	-0.64	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.10450	0.005;0.002;0.004	T	0.40683	-0.9550	10	0.05620	T	0.96	-0.4312	0.3819	0.00396	0.19:0.2078:0.2107:0.3915	.	801;801;801	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	E	801	ENSP00000350447:D801E	ENSP00000350447:D801E	D	+	3	2	SGOL2	201145717	0.005000	0.15991	0.174000	0.22961	0.016000	0.09150	-0.103000	0.10940	-0.134000	0.11516	-0.446000	0.05623	GAT		0.348	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		13	59	0	0	0	1	0	13	59					G	201437472	T	G	201437472	3	3	48	1	0	0	0	0	1	0	0	0	14232	1490	52	4	2425	4	SGOL2	2	201437472	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	662	201437472	41761901	788	5256										
SGOL2	151246	broad.mit.edu	37	chr2	201437691	201437691	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcatcaaagataatggaaaTttatgtgattatgacaccca	6	7	2	3	rs189556864		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:201437691T>G	ENST00000357799.4	+	7	2720	c.2622T>G	c.(2620-2622)aaT>aaG	p.N874K		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)	874					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)				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						ATAATGGAAATTTATGTGATT	0.308													T|||	1	0.000199681	0	0	5008	,	,		19226	0		0.001	False		,,,				2504	0					ENST00000357799.4																			0				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.(2620-2622)aaT>aaG		shugoshin-like 2 (S. pombe)							81	83	82					2																	201437691		1805	4056	5861	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437691T>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2622T>G	2.37:g.201437691T>G	ENSP00000350447:p.Asn874Lys		Somatic					p.N874K	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	2720	+			874					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.2622T>G	CCDS42796.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	0.855	-0.737410	0.03111	.	.	ENSG00000163535	ENST00000357799	T	0.14516	2.5	4.7	2.21	0.28008	.	0.309294	0.23487	N	0.047646	T	0.08179	0.0204	N	0.22421	0.69	0.21445	N	0.999681	B;B;B	0.14438	0.002;0.001;0.01	B;B;B	0.17433	0.004;0.004;0.018	T	0.27365	-1.0076	10	0.44086	T	0.13	-12.0054	5.3484	0.16022	0.177:0.0:0.1849:0.6381	.	874;874;874	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	K	874	ENSP00000350447:N874K	ENSP00000350447:N874K	N	+	3	2	SGOL2	201145936	0.000000	0.05858	0.009000	0.14445	0.036000	0.12997	-0.268000	0.08607	0.357000	0.24183	-0.399000	0.06403	AAT		0.308	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		6	70	0	0	0	1	0	6	70					G	201437691	T	G	201437691	3	3	48	1	0	0	0	0	1	0	0	0	14232	1490	52	4	2644	4	SGOL2	2	201437691	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	219	201437691	41761682	789	5257										
CFLAR	8837	broad.mit.edu	37	chr2	202025201	202025201	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgggctatgaagtccagaaAttcttgcatctcagtatgca	9	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202025201A>T	ENST00000309955.3	+	9	1355	c.840A>T	c.(838-840)aaA>aaT	p.K280N	CFLAR_ENST00000457277.1_Missense_Mutation_p.K280N|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000340870.5_Missense_Mutation_p.K280N|CFLAR_ENST00000341582.6_Missense_Mutation_p.K245N|CFLAR_ENST00000423241.2_Missense_Mutation_p.K280N|CFLAR_ENST00000479953.2_Missense_Mutation_p.K184N|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000443227.1_Missense_Mutation_p.K184N	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	280	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|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						AAGTCCAGAAATTCTTGCATC	0.478																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000309955.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(838-840)aaA>aaT		CASP8 and FADD-like apoptosis regulator							171	156	161					2																	202025201		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.chr2:202025201A>T	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"Endogenous ligands"	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.840A>T	2.37:g.202025201A>T	ENSP00000312455:p.Lys280Asn		Somatic				CFLAR_ENST00000423241.2_Missense_Mutation_p.K280N|CFLAR_ENST00000479953.2_Missense_Mutation_p.K184N|CFLAR_ENST00000340870.5_Missense_Mutation_p.K280N|CFLAR_ENST00000443227.1_Missense_Mutation_p.K184N|CFLAR_ENST00000457277.1_Missense_Mutation_p.K280N|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000341582.6_Missense_Mutation_p.K245N	p.K280N	NM_003879.5	NP_003870.4	WXS	Illumina GAIIx	Phase_I	O15519	CFLAR_HUMAN			9	1355	+			280			Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|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.840A>T	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.567069	0.28003	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000423241;ENST00000457277	T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2	5.62	-2.41	0.06562	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	2.539020	0.00979	N	0.003345	T	0.13884	0.0336	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.32203	0.122;0.31;0.31;0.36	B;B;B;B	0.33960	0.138;0.108;0.076;0.173	T	0.15093	-1.0449	10	0.27785	T	0.31	17.4722	6.1112	0.20102	0.129:0.4082:0.0:0.4629	.	184;280;245;280	O15519-3;O15519-11;O15519-8;O15519	.;.;.;CFLAR_HUMAN	N	280;184;280;166;245;280;280	ENSP00000312455:K280N;ENSP00000413270:K184N;ENSP00000339326:K280N;ENSP00000345807:K245N;ENSP00000399420:K280N;ENSP00000411535:K280N	ENSP00000312455:K280N	K	+	3	2	CFLAR	201733446	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.186000	0.16978	-0.420000	0.07427	-0.527000	0.04329	AAA		0.478	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		52	96	0	0	0	1	0	52	96					T	202025201	A	T	202025201	3	4	48	1	0	0	0	0	1	0	0	0	3294	98	4	4	934	4	CFLAR	2	202025201	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	587510	202025201	41174172	790	5258										
CASP8	841	broad.mit.edu	37	chr2	202131412	202131412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgaaggagctgctcttccGaattaatagactggatttgc	10	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202131412G>A	ENST00000432109.2	+	3	392	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	CASP8_ENST00000323492.7_Missense_Mutation_p.R68Q|CASP8_ENST00000392259.2_Missense_Mutation_p.R68Q|CASP8_ENST00000392266.3_Missense_Mutation_p.R68Q|CASP8_ENST00000392258.3_Missense_Mutation_p.R68Q|CASP8_ENST00000264275.5_Missense_Mutation_p.R68Q|CASP8_ENST00000358485.4_Missense_Mutation_p.R127Q|CASP8_ENST00000264274.9_Missense_Mutation_p.R68Q	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	68	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTGCTCTTCCGAATTAATAGA	0.453										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(379-381)cGa>cAa		caspase 8, apoptosis-related cysteine peptidase							65	66	66					2																	202131412		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202131412G>A	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.203G>A	2.37:g.202131412G>A	ENSP00000412523:p.Arg68Gln	HNSCC(4;0.00038)	Somatic				CASP8_ENST00000264274.9_Missense_Mutation_p.R68Q|CASP8_ENST00000264275.5_Missense_Mutation_p.R68Q|CASP8_ENST00000323492.7_Missense_Mutation_p.R68Q|CASP8_ENST00000432109.2_Missense_Mutation_p.R68Q|CASP8_ENST00000392266.3_Missense_Mutation_p.R68Q|CASP8_ENST00000392258.3_Missense_Mutation_p.R68Q|CASP8_ENST00000392259.2_Missense_Mutation_p.R68Q	p.R127Q	NM_001080125.1	NP_001073594.1	WXS	Illumina GAIIx	Phase_I	Q14790	CASP8_HUMAN			2	576	+			68			DED 2.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.380G>A	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250334	0.59212	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.58	-0.963	0.10330	DEATH-like (2);Death effector (3);	0.756955	0.12477	N	0.465525	T	0.79661	0.4484	M	0.75150	2.29	0.09310	N	1	B;P;P;P;P;P;P;P;D	0.58970	0.236;0.746;0.949;0.894;0.852;0.58;0.673;0.524;0.984	B;B;B;P;B;B;B;B;P	0.47299	0.016;0.404;0.424;0.543;0.332;0.26;0.118;0.133;0.463	T	0.69427	-0.5148	10	0.02654	T	1	.	9.7004	0.40182	0.4848:0.0:0.5152:0.0	.	68;68;68;68;127;68;68;68;68	Q14790-3;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;CASP8_HUMAN;.;.;.	Q	68;68;68;68;68;68;68;68;68;127;68;68;68;68	ENSP00000376091:R68Q;ENSP00000264274:R68Q;ENSP00000376088:R68Q;ENSP00000376094:R68Q;ENSP00000412523:R68Q;ENSP00000264275:R68Q;ENSP00000396869:R68Q;ENSP00000376087:R68Q;ENSP00000388306:R68Q;ENSP00000351273:R127Q;ENSP00000397528:R68Q;ENSP00000325722:R68Q;ENSP00000390641:R68Q	ENSP00000264274:R68Q	R	+	2	0	CASP8	201839657	0.001000	0.12720	0.034000	0.17996	0.073000	0.16967	-0.167000	0.09940	-0.223000	0.09943	-0.291000	0.09656	CGA		0.453	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		13	32	0	0	0	1	0	13	32					A	202131412	G	A	202131412	3	1	48	1	0	0	0	0	1	0	0	0	2679	1058	37	1	386	1	CASP8	2	202131412	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	106211	202131412	41067961	791	5259										
CASP8	841	broad.mit.edu	37	chr2	202137360	202137360	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttatttctcctcctcttaGaacctgctggatattttcat	4	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202137360G>T	ENST00000432109.2	+	5	600		c.e5-1		CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000358485.4_Splice_Site|CASP8_ENST00000264274.9_Splice_Site	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTCCTCTTAGAACCTGCTGG	0.408										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.e4-1		caspase 8, apoptosis-related cysteine peptidase							99	104	102					2																	202137360		2203	4300	6503	SO:0001630	splice_region_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202137360G>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.412-1G>T	2.37:g.202137360G>T		HNSCC(4;0.00038)	Somatic				CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000432109.2_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000392259.2_Splice_Site		NM_001080125.1	NP_001073594.1	WXS	Illumina GAIIx	Phase_I	Q14790	CASP8_HUMAN			4	784	+								O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Splice_Site	SNP	ENST00000432109.2	37		CCDS2342.1	.	.	.	.	.	.	.	.	.	.	G	8.825	0.938586	0.18206	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.969	0.86294	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CASP8	201845605	1.000000	0.71417	0.514000	0.27761	0.071000	0.16799	6.789000	0.75110	2.682000	0.91365	0.585000	0.79938	.		0.408	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	Intron	41	73	1	0	6.2361e-21	1	8.5756e-21	41	73					T	202137360	G	T	202137360	5	4	48	1	0	0	0	0	0	0	1	0	2679	956	33	2	702	2	CASP8	2	202137360	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5948	202137360	41062013	792	5260										
ALS2CR12	130540	broad.mit.edu	37	chr2	202154232	202154232	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatggtgtgcttatacttttCttcagtttcagcaaacttgg	8	7	3	0	rs149980324		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202154232C>A	ENST00000286190.5	-	13	1205	c.1159G>T	c.(1159-1161)Gaa>Taa	p.E387*	ALS2CR12_ENST00000439709.1_Nonsense_Mutation_p.E364*|ALS2CR12_ENST00000405148.2_Nonsense_Mutation_p.E387*|ALS2CR12_ENST00000392257.3_Nonsense_Mutation_p.E364*			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	387					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TTATACTTTTCTTCAGTTTCA	0.418																																						ENST00000405148.2																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(1159-1161)Gaa>Taa		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12							171	171	171					2																	202154232		2203	4300	6503	SO:0001587	stop_gained	130540				regulation of GTPase activity		protein binding	g.chr2:202154232C>A	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.1159G>T	2.37:g.202154232C>A	ENSP00000286190:p.Glu387*		Somatic				ALS2CR12_ENST00000286190.5_Nonsense_Mutation_p.E387*|ALS2CR12_ENST00000392257.3_Nonsense_Mutation_p.E364*|ALS2CR12_ENST00000439709.1_Nonsense_Mutation_p.E364*	p.E387*	NM_139163.2	NP_631902.2	WXS	Illumina GAIIx	Phase_I	Q96Q35	AL2SB_HUMAN			14	1602	-			387					G5E9S3|Q53TT6|Q8N1B6	Nonsense_Mutation	SNP	ENST00000286190.5	37	c.1159G>T	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	C	38	6.680625	0.97759	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709	.	.	.	4.7	4.7	0.59300	.	0.245925	0.28847	N	0.013949	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-7.4273	14.6951	0.69115	0.0:1.0:0.0:0.0	.	.	.	.	X	387;387;364;364	.	ENSP00000286190:E387X	E	-	1	0	ALS2CR12	201862477	0.999000	0.42202	0.959000	0.39883	0.214000	0.24535	3.894000	0.56250	2.442000	0.82660	0.561000	0.74099	GAA		0.418	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		24	68	1	0	9.39395e-14	1	1.21013e-13	24	68					A	202154232	C	A	202154232	4	1	48	1	0	0	0	0	0	1	0	0	553	922	32	2	186	2	ALS2CR12	2	202154232	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	16872	202154232	41045141	793	5261										
TRAK2	66008	broad.mit.edu	37	chr2	202257694	202257694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtagggccagatctactacGaagttcctttatttcttctt	7	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202257694G>A	ENST00000332624.3	-	10	1479	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	351	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GATCTACTACGAAGTTCCTTT	0.388																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(1051-1053)Cgt>Tgt		trafficking protein, kinesin binding 2							118	120	119					2																	202257694		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202257694G>A	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"gamma-aminobutyric acid(A) receptor-interacting factor", "milton homolog 2 (Drosophila)", "O-linked N-acetylglucosamine transferase interacting protein 98"	607334	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1051C>T	2.37:g.202257694G>A	ENSP00000328875:p.Arg351Cys		Somatic					p.R351C	NM_015049.2	NP_055864.2	WXS	Illumina GAIIx	Phase_I	O60296	TRAK2_HUMAN			10	1479	-			351	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.1051C>T	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821354	0.90873	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.28454	1.61	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.65401	-0.6177	10	0.87932	D	0	.	16.5402	0.84383	0.0:0.0:1.0:0.0	.	351	O60296	TRAK2_HUMAN	C	351;257	ENSP00000328875:R351C	ENSP00000328875:R351C	R	-	1	0	TRAK2	201965939	1.000000	0.71417	0.974000	0.42286	0.979000	0.70002	5.456000	0.66665	2.631000	0.89168	0.655000	0.94253	CGT		0.388	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		15	8	0	0	0	1	0	15	8					A	202257694	G	A	202257694	3	1	48	1	0	0	0	0	1	0	0	0	16465	1058	37	1	1721	1	TRAK2	2	202257694	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	103462	202257694	40941679	794	5262										
TRAK2	66008	broad.mit.edu	37	chr2	202263032	202263032	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaagcaatggagacgattcGaagtaactcatctttcttgc	9	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202263032G>A	ENST00000332624.3	-	6	954	c.526C>T	c.(526-528)Cga>Tga	p.R176*	TRAK2_ENST00000430254.1_Nonsense_Mutation_p.R176*	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	176	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)	p.R176*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGACGATTCGAAGTAACTCA	0.383																																						ENST00000332624.3																			1	Substitution - Nonsense(1)	p.R176*(1)	large_intestine(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(526-528)Cga>Tga		trafficking protein, kinesin binding 2							104	97	100					2																	202263032		2203	4300	6503	SO:0001587	stop_gained	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202263032G>A	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"gamma-aminobutyric acid(A) receptor-interacting factor", "milton homolog 2 (Drosophila)", "O-linked N-acetylglucosamine transferase interacting protein 98"	607334	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.526C>T	2.37:g.202263032G>A	ENSP00000328875:p.Arg176*		Somatic				TRAK2_ENST00000430254.1_Nonsense_Mutation_p.R176*	p.R176*	NM_015049.2	NP_055864.2	WXS	Illumina GAIIx	Phase_I	O60296	TRAK2_HUMAN			6	954	-			176					E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Nonsense_Mutation	SNP	ENST00000332624.3	37	c.526C>T	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	40	8.075624	0.98640	.	.	ENSG00000115993	ENST00000332624;ENST00000542292;ENST00000430254	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	14.7862	0.69806	0.0:0.0:0.8557:0.1443	.	.	.	.	X	176;82;176	.	ENSP00000328875:R176X	R	-	1	2	TRAK2	201971277	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.912000	0.69948	2.786000	0.95864	0.563000	0.77884	CGA		0.383	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		20	39	0	0	0	1	0	20	39					A	202263032	G	A	202263032	4	1	48	1	0	0	0	0	0	1	0	0	16465	1066	37	1	2262	1	TRAK2	2	202263032	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5338	202263032	40936341	795	5263										
MPP4	58538	broad.mit.edu	37	chr2	202510068	202510068	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaatcacatgatcaaaaaaTtggccaaactgagtttccat	5	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202510068T>C	ENST00000409474.3	-	22	1986	c.1779A>G	c.(1777-1779)caA>caG	p.Q593Q	TMEM237_ENST00000409444.2_5'Flank|MPP4_ENST00000447335.2_Silent_p.Q586Q|MPP4_ENST00000396886.3_Silent_p.Q518Q|RNU6-651P_ENST00000411040.1_RNA|MPP4_ENST00000359962.5_Silent_p.Q593Q|MPP4_ENST00000315506.7_Silent_p.Q549Q|MPP4_ENST00000428900.2_Silent_p.Q569Q|TMEM237_ENST00000409883.2_5'Flank|MPP4_ENST00000409143.1_Silent_p.Q535Q	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	593	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						GATCAAAAAATTGGCCAAACT	0.418																																						ENST00000409474.3																			0				kidney(1)|lung(11)	12						c.(1777-1779)caA>caG		membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)							75	75	75					2																	202510068		1891	4136	6027	SO:0001819	synonymous_variant	58538					cytoplasm	protein binding	g.chr2:202510068T>C	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.1779A>G	2.37:g.202510068T>C			Somatic				MPP4_ENST00000428900.2_Silent_p.Q569Q|MPP4_ENST00000447335.2_Silent_p.Q586Q|MPP4_ENST00000315506.7_Silent_p.Q549Q|MPP4_ENST00000359962.5_Silent_p.Q593Q|MPP4_ENST00000396886.3_Silent_p.Q518Q|MPP4_ENST00000409143.1_Silent_p.Q535Q	p.Q593Q	NM_033066.2	NP_149055.1	WXS	Illumina GAIIx	Phase_I	Q96JB8	MPP4_HUMAN			22	1986	-			593			Guanylate kinase-like.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Silent	SNP	ENST00000409474.3	37	c.1779A>G	CCDS46491.1																																																																																				0.418	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			19	30	0	0	0	1	0	19	30					C	202510068	T	C	202510068	2	2	48	1	0	0	0	0	0	0	0	1	9745	1490	52	4		4	MPP4	2	202510068	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	247036	202510068	40689305	796	5264										
MPP4	58538	broad.mit.edu	37	chr2	202510091	202510091	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccaaactgagtttccattcTttgggctaaattttccatct	6	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202510091T>A	ENST00000409474.3	-	22	1963	c.1756A>T	c.(1756-1758)Aga>Tga	p.R586*	TMEM237_ENST00000409444.2_5'Flank|MPP4_ENST00000447335.2_Nonsense_Mutation_p.R579*|MPP4_ENST00000396886.3_Nonsense_Mutation_p.R511*|RNU6-651P_ENST00000411040.1_RNA|MPP4_ENST00000359962.5_Nonsense_Mutation_p.R586*|MPP4_ENST00000315506.7_Nonsense_Mutation_p.R542*|MPP4_ENST00000428900.2_Nonsense_Mutation_p.R562*|TMEM237_ENST00000409883.2_5'Flank|MPP4_ENST00000409143.1_Nonsense_Mutation_p.R528*	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	586	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						GTTTCCATTCTTTGGGCTAAA	0.378																																						ENST00000409474.3																			0				kidney(1)|lung(11)	12						c.(1756-1758)Aga>Tga		membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)							64	65	65					2																	202510091		1865	4106	5971	SO:0001587	stop_gained	58538					cytoplasm	protein binding	g.chr2:202510091T>A	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.1756A>T	2.37:g.202510091T>A	ENSP00000387278:p.Arg586*		Somatic				MPP4_ENST00000428900.2_Nonsense_Mutation_p.R562*|MPP4_ENST00000447335.2_Nonsense_Mutation_p.R579*|MPP4_ENST00000315506.7_Nonsense_Mutation_p.R542*|MPP4_ENST00000359962.5_Nonsense_Mutation_p.R586*|MPP4_ENST00000396886.3_Nonsense_Mutation_p.R511*|MPP4_ENST00000409143.1_Nonsense_Mutation_p.R528*	p.R586*	NM_033066.2	NP_149055.1	WXS	Illumina GAIIx	Phase_I	Q96JB8	MPP4_HUMAN			22	1963	-			586			Guanylate kinase-like.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Nonsense_Mutation	SNP	ENST00000409474.3	37	c.1756A>T	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	T	39	7.296291	0.98192	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	.	.	.	5.38	5.38	0.77491	.	0.180058	0.47093	D	0.000246	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	15.4125	0.74937	0.0:0.0:0.0:1.0	.	.	.	.	X	586;542;511;586;551;515;562;528;579	.	ENSP00000319363:R542X	R	-	1	2	MPP4	202218336	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.604000	0.61112	2.035000	0.60131	0.533000	0.62120	AGA		0.378	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			5	35	0	0	0	1	0	5	35					A	202510091	T	A	202510091	4	1	48	1	0	0	0	0	0	1	0	0	9745	1617	56	4	161	4	MPP4	2	202510091	Nonsense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	23	202510091	40689282	797	5265										
BMPR2	659	broad.mit.edu	37	chr2	203379620	203379620	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttcttataggagaccgtaAacaaggtcttcacagtatga	9	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:203379620A>G	ENST00000374580.4	+	5	1078	c.539A>G	c.(538-540)aAa>aGa	p.K180R	BMPR2_ENST00000374574.2_Missense_Mutation_p.K180R	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	180					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						GGAGACCGTAAACAAGGTCTT	0.343																																						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.(538-540)aAa>aGa		bone morphogenetic protein receptor, type II (serine/threonine kinase)							136	124	128					2																	203379620		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.chr2:203379620A>G	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.539A>G	2.37:g.203379620A>G	ENSP00000363708:p.Lys180Arg		Somatic				BMPR2_ENST00000374574.2_Missense_Mutation_p.K180R	p.K180R	NM_001204.6	NP_001195.2	WXS	Illumina GAIIx	Phase_I	Q13873	BMPR2_HUMAN			5	1078	+			180					Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.539A>G	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.912304	0.92178	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.90261	-2.64;-2.49	5.92	5.92	0.95590	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91188	0.7224	L	0.29908	0.895	0.58432	D	0.999997	D;D	0.76494	0.991;0.999	P;D	0.66196	0.631;0.942	D	0.88735	0.3239	10	0.17369	T	0.5	.	16.3678	0.83341	1.0:0.0:0.0:0.0	.	180;180	Q13161;Q13873	.;BMPR2_HUMAN	R	180	ENSP00000363708:K180R;ENSP00000363702:K180R	ENSP00000363702:K180R	K	+	2	0	BMPR2	203087865	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.630000	0.90987	2.254000	0.74563	0.528000	0.53228	AAA		0.343	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		15	21	0	0	0	1	0	15	21					G	203379620	A	G	203379620	3	3	48	1	0	0	0	0	1	0	0	0	1471	14	1	4	557	4	BMPR2	2	203379620	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	869529	203379620	39819753	798	5266										
ICA1L	130026	broad.mit.edu	37	chr2	203653775	203653775	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaattccttctcaaaatcttCtccttccaatgaatctacag	3	12	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:203653775C>A	ENST00000392237.2	-	12	1178	c.1021G>T	c.(1021-1023)Gaa>Taa	p.E341*	ICA1L_ENST00000358299.2_Nonsense_Mutation_p.E341*	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	341										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAAAATCTTCTCCTTCCAAT	0.368																																						ENST00000392237.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1021-1023)Gaa>Taa		islet cell autoantigen 1,69kDa-like							70	77	74					2																	203653775		2203	4300	6503	SO:0001587	stop_gained	130026							g.chr2:203653775C>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.1021G>T	2.37:g.203653775C>A	ENSP00000376070:p.Glu341*		Somatic				ICA1L_ENST00000358299.2_Nonsense_Mutation_p.E341*	p.E341*	NM_138468.4	NP_612477.3	WXS	Illumina GAIIx	Phase_I	Q8NDH6	ICA1L_HUMAN			12	1178	-			341					B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Nonsense_Mutation	SNP	ENST00000392237.2	37	c.1021G>T	CCDS2354.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256246	0.80246	.	.	ENSG00000163596	ENST00000392237;ENST00000358299;ENST00000420558	.	.	.	6.07	5.19	0.71726	.	0.430817	0.25427	N	0.030759	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	10.3072	0.43687	0.0:0.9133:0.0:0.0867	.	.	.	.	X	341;341;91	.	ENSP00000351047:E341X	E	-	1	0	ICA1L	203362020	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.723000	0.38053	2.885000	0.99019	0.655000	0.94253	GAA		0.368	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1	NM_138468		15	55	1	0	2.32078e-09	1	2.7896e-09	15	55					A	203653775	C	A	203653775	4	1	48	1	0	0	0	0	0	1	0	0	7487	922	32	2	439	2	ICA1L	2	203653775	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	274155	203653775	39545598	799	5267										
NBEAL1	65065	broad.mit.edu	37	chr2	204013739	204013739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttgtggagccatttaatcGaaaagcacgccaagagaacc	10	9	0	1	rs370056682		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:204013739G>A	ENST00000449802.1	+	33	5576	c.5243G>A	c.(5242-5244)cGa>cAa	p.R1748Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1748										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						CCATTTAATCGAAAAGCACGC	0.343																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(5242-5244)cGa>cAa		neurobeachin-like 1		G	GLN/ARG	0,3666		0,0,1833	80	74	76		5243	5.9	1	2		76	1,8151		0,1,4075	no	missense	NBEAL1	NM_001114132.1	43	0,1,5908	AA,AG,GG		0.0123,0.0,0.0085	probably-damaging	1748/2695	204013739	1,11817	1833	4076	5909	SO:0001583	missense	65065						binding	g.chr2:204013739G>A	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.5243G>A	2.37:g.204013739G>A	ENSP00000399903:p.Arg1748Gln		Somatic					p.R1748Q	NM_001114132.1	NP_001107604.1	WXS	Illumina GAIIx	Phase_I	Q6ZS30	NBEL1_HUMAN			33	5576	+			1748					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.5243G>A	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	36	5.802206	0.96960	0.0	1.23E-4	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.54866	0.55	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.68439	-0.5408	10	0.35671	T	0.21	.	19.8506	0.96738	0.0:0.0:1.0:0.0	.	1748;1737	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	Q	1748	ENSP00000399903:R1748Q	ENSP00000344985:R1748Q	R	+	2	0	NBEAL1	203721984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.403000	0.97302	2.791000	0.96007	0.655000	0.94253	CGA		0.343	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			22	38	0	0	0	1	0	22	38					A	204013739	G	A	204013739	3	1	48	1	0	0	0	0	1	0	0	0	10197	1058	37	1	5369	1	NBEAL1	2	204013739	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	359964	204013739	39185634	800	5268										
CYP20A1	57404	broad.mit.edu	37	chr2	204154520	204154520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgctttgtgaaactgttcGaactgccaaactgactccag	9	10	0	2	rs201088277		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:204154520G>A	ENST00000356079.4	+	10	1127	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	CYP20A1_ENST00000429815.2_Missense_Mutation_p.R343Q|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	335						integral component of membrane (GO:0016021)|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)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAACTGTTCGAACTGCCAAA	0.323																																						ENST00000356079.4																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(1003-1005)cGa>cAa		cytochrome P450, family 20, subfamily A, polypeptide 1							66	64	65					2																	204154520		2203	4300	6503	SO:0001583	missense	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204154520G>A	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"Cytochrome P450s"	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.1004G>A	2.37:g.204154520G>A	ENSP00000348380:p.Arg335Gln		Somatic				CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.R343Q	p.R335Q	NM_177538.2	NP_803882.1	WXS	Illumina GAIIx	Phase_I	Q6UW02	CP20A_HUMAN			10	1127	+			335					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	c.1004G>A	CCDS2357.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132066	0.94473	.	.	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815	D;D	0.97480	-4.4;-4.4	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.98626	0.9540	M	0.85197	2.74	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.986	D	0.99501	1.0953	10	0.87932	D	0	-12.4289	19.6715	0.95914	0.0:0.0:1.0:0.0	.	343;335	E9PHG5;Q6UW02	.;CP20A_HUMAN	Q	335;308;343	ENSP00000348380:R335Q;ENSP00000407860:R343Q	ENSP00000348380:R335Q	R	+	2	0	CYP20A1	203862765	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.055000	0.89453	2.667000	0.90743	0.580000	0.79431	CGA		0.323	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		23	26	0	0	0	1	0	23	26					A	204154520	G	A	204154520	3	1	48	1	0	0	0	0	1	0	0	0	4154	1058	37	1	1042	1	CYP20A1	2	204154520	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	140781	204154520	39044853	801	5269										
ZDBF2	57683	broad.mit.edu	37	chr2	207170663	207170663	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatcccaaatgattgttaaaGaaataagtcttcagaatgca	6	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207170663G>T	ENST00000374423.3	+	5	1797	c.1411G>T	c.(1411-1413)Gaa>Taa	p.E471*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	471							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E471*(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GATTGTTAAAGAAATAAGTCT	0.333																																						ENST00000374423.3																			2	Substitution - Nonsense(2)	p.E471*(2)	large_intestine(2)	endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1411-1413)Gaa>Taa		zinc finger, DBF-type containing 2							43	41	42					2																	207170663		1847	4090	5937	SO:0001587	stop_gained	57683						nucleic acid binding|zinc ion binding	g.chr2:207170663G>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.1411G>T	2.37:g.207170663G>T	ENSP00000363545:p.Glu471*		Somatic					p.E471*	NM_020923.1	NP_065974.1	WXS	Illumina GAIIx	Phase_I	Q9HCK1	ZDBF2_HUMAN			5	1797	+			471					Q6ZNP7|Q6ZSN8	Nonsense_Mutation	SNP	ENST00000374423.3	37	c.1411G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	38	6.993924	0.97987	.	.	ENSG00000204186	ENST00000374423	.	.	.	4.89	4.89	0.63831	.	0.851161	0.09773	N	0.757716	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	14.2831	0.66226	0.0:0.0:1.0:0.0	.	.	.	.	X	471	.	ENSP00000363545:E471X	E	+	1	0	ZDBF2	206878908	0.997000	0.39634	0.033000	0.17914	0.004000	0.04260	3.749000	0.55150	2.638000	0.89438	0.603000	0.83216	GAA		0.333	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		9	23	1	0	0.000274275	1	0.000292037	9	23					T	207170663	G	T	207170663	4	4	48	1	0	0	0	0	0	1	0	0	17614	943	33	2	1421	2	ZDBF2	2	207170663	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3016143	207170663	36028710	802	5270										
ZDBF2	57683	broad.mit.edu	37	chr2	207173411	207173411	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcttcaaaaacctgtcaaaGaaataaatctttggaaggaa	7	6	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207173411G>T	ENST00000374423.3	+	5	4545	c.4159G>T	c.(4159-4161)Gaa>Taa	p.E1387*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1387							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E1387K(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACCTGTCAAAGAAATAAATCT	0.353																																						ENST00000374423.3																			2	Substitution - Missense(2)	p.E1387K(2)	large_intestine(2)	endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4159-4161)Gaa>Taa		zinc finger, DBF-type containing 2							45	43	44					2																	207173411		1823	4087	5910	SO:0001587	stop_gained	57683						nucleic acid binding|zinc ion binding	g.chr2:207173411G>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.4159G>T	2.37:g.207173411G>T	ENSP00000363545:p.Glu1387*		Somatic					p.E1387*	NM_020923.1	NP_065974.1	WXS	Illumina GAIIx	Phase_I	Q9HCK1	ZDBF2_HUMAN			5	4545	+			1387					Q6ZNP7|Q6ZSN8	Nonsense_Mutation	SNP	ENST00000374423.3	37	c.4159G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	41	8.818012	0.98966	.	.	ENSG00000204186	ENST00000374423	.	.	.	3.76	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	7.1084	0.25376	0.1222:0.0:0.8778:0.0	.	.	.	.	X	1387	.	ENSP00000363545:E1387X	E	+	1	0	ZDBF2	206881656	0.663000	0.27448	0.013000	0.15412	0.222000	0.24845	1.236000	0.32683	1.156000	0.42514	0.650000	0.86243	GAA		0.353	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		14	20	1	0	6.31663e-08	1	7.35827e-08	14	20					T	207173411	G	T	207173411	4	4	48	1	0	0	0	0	0	1	0	0	17614	943	33	2	4169	2	ZDBF2	2	207173411	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2748	207173411	36025962	803	5271										
ZDBF2	57683	broad.mit.edu	37	chr2	207174556	207174556	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagcctcaagaaactgttaaGaaaagacacccttgtaagaa	7	9	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207174556G>T	ENST00000374423.3	+	5	5690	c.5304G>T	c.(5302-5304)aaG>aaT	p.K1768N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1768							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						AAACTGTTAAGAAAAGACACC	0.423																																						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.(5302-5304)aaG>aaT		zinc finger, DBF-type containing 2							55	55	55					2																	207174556		1872	4102	5974	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207174556G>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.5304G>T	2.37:g.207174556G>T	ENSP00000363545:p.Lys1768Asn		Somatic					p.K1768N	NM_020923.1	NP_065974.1	WXS	Illumina GAIIx	Phase_I	Q9HCK1	ZDBF2_HUMAN			5	5690	+			1768					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.5304G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	7.909	0.736171	0.15574	.	.	ENSG00000204186	ENST00000374423	T	0.55760	0.5	5.01	-0.0674	0.13760	.	.	.	.	.	T	0.24851	0.0603	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17623	-1.0363	9	0.16420	T	0.52	.	2.485	0.04596	0.1694:0.1176:0.4685:0.2445	.	1768	Q9HCK1	ZDBF2_HUMAN	N	1768	ENSP00000363545:K1768N	ENSP00000363545:K1768N	K	+	3	2	ZDBF2	206882801	0.016000	0.18221	0.000000	0.03702	0.373000	0.29922	0.146000	0.16180	0.129000	0.18514	-0.271000	0.10264	AAG		0.423	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		11	22	1	0	0.000978159	1	0.00102903	11	22					T	207174556	G	T	207174556	3	4	48	1	0	0	0	0	1	0	0	0	17614	933	33	2	5314	2	ZDBF2	2	207174556	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1145	207174556	36024817	804	5272										
ADAM23	8745	broad.mit.edu	37	chr2	207414845	207414845	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtggtatatttgaagaaatGaaatatttggaacttatgat	9	2	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207414845G>T	ENST00000264377.3	+	9	1222	c.894G>T	c.(892-894)atG>atT	p.M298I	ADAM23_ENST00000374415.3_Missense_Mutation_p.M298I|ADAM23_ENST00000374416.1_Missense_Mutation_p.M298I	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	298					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)		TTGAAGAAATGAAATATTTGG	0.303																																					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.(892-894)atG>atT		ADAM metallopeptidase domain 23							80	81	80					2																	207414845		2203	4296	6499	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.chr2:207414845G>T	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.894G>T	2.37:g.207414845G>T	ENSP00000264377:p.Met298Ile		Somatic				ADAM23_ENST00000374415.3_Missense_Mutation_p.M298I|ADAM23_ENST00000374416.1_Missense_Mutation_p.M298I	p.M298I	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	1222	+			298					A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.894G>T	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617647	0.66787	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.09350	2.99;2.99;2.99	5.86	5.86	0.93980	Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.14356	0.0347	L	0.32530	0.975	0.80722	D	1	B	0.33841	0.428	B	0.38616	0.277	T	0.02698	-1.1122	10	0.46703	T	0.11	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	298	O75077	ADA23_HUMAN	I	298;298;192;298	ENSP00000264377:M298I;ENSP00000363537:M298I;ENSP00000363536:M298I	ENSP00000264377:M298I	M	+	3	0	ADAM23	207123090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.846000	0.75399	2.937000	0.99478	0.650000	0.86243	ATG		0.303	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		6	16	1	0	0.0215528	1	0.0219788	6	16					T	207414845	G	T	207414845	3	4	48	1	0	0	0	0	1	0	0	0	245	1290	45	2	928	2	ADAM23	2	207414845	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	240289	207414845	35784528	805	5273										
DYTN	391475	broad.mit.edu	37	chr2	207575305	207575305	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttctataaatggaattctCaatactattaagagcatctg	6	6	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207575305C>T	ENST00000452335.2	-	2	153	c.37G>A	c.(37-39)Gag>Aag	p.E13K		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	13						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)		ATGGAATTCTCAATACTATTA	0.323																																						ENST00000452335.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36						c.(37-39)Gag>Aag		dystrotelin							63	59	61					2																	207575305		1811	4081	5892	SO:0001583	missense	391475					plasma membrane	zinc ion binding	g.chr2:207575305C>T	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.37G>A	2.37:g.207575305C>T	ENSP00000396593:p.Glu13Lys		Somatic					p.E13K	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)	2	153	-			13						Missense_Mutation	SNP	ENST00000452335.2	37	c.37G>A	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252123	0.59212	.	.	ENSG00000232125	ENST00000452335	T	0.59224	0.28	4.49	4.49	0.54785	EF-hand domain, type 1 (1);	.	.	.	.	T	0.60366	0.2263	L	0.27053	0.805	0.30488	N	0.771649	D	0.67145	0.996	D	0.67725	0.953	T	0.54248	-0.8322	9	0.30854	T	0.27	-8.227	11.3556	0.49613	0.0:0.7677:0.2323:0.0	.	13	A2CJ06	DYTN_HUMAN	K	13	ENSP00000396593:E13K	ENSP00000396593:E13K	E	-	1	0	DYTN	207283550	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	2.143000	0.42187	2.778000	0.95560	0.655000	0.94253	GAG		0.323	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			9	6	0	0	0	1	0	9	6					T	207575305	C	T	207575305	3	4	48	1	0	0	0	0	1	0	0	0	4863	835	29	3	1743	3	DYTN	2	207575305	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	160460	207575305	35624068	806	5274										
CPO	130749	broad.mit.edu	37	chr2	207827337	207827337	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcaagtaaccacccagaaaTggtgagtccatagcaccaag	8	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207827337T>C	ENST00000272852.3	+	7	822	c.776T>C	c.(775-777)aTg>aCg	p.M259T		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	259						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CACCCAGAAATGGTGAGTCCA	0.443																																						ENST00000272852.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.e7+1		carboxypeptidase O							102	98	99					2																	207827337		2203	4300	6503	SO:0001630	splice_region_variant	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207827337T>C		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.777+1T>C	2.37:g.207827337T>C			Somatic					p.M259_splice	NM_173077.2	NP_775100.1	WXS	Illumina GAIIx	Phase_I	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	7	822	+			259					Q2M277|Q7RTW7	Splice_Site	SNP	ENST00000272852.3	37	c.777_splice	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460834	0.26248	.	.	ENSG00000144410	ENST00000272852	T	0.10382	2.88	5.5	5.5	0.81552	Peptidase M14, carboxypeptidase A (2);	0.165675	0.42294	D	0.000733	T	0.15478	0.0373	L	0.55017	1.72	0.31338	N	0.683949	B	0.27625	0.183	B	0.33846	0.171	T	0.05099	-1.0906	10	0.87932	D	0	.	13.6117	0.62083	0.0:0.0:0.0:1.0	.	259	Q8IVL8	CBPO_HUMAN	T	259	ENSP00000272852:M259T	ENSP00000272852:M259T	M	+	2	0	CPO	207535582	1.000000	0.71417	0.967000	0.41034	0.066000	0.16364	7.144000	0.77357	2.313000	0.78055	0.454000	0.30748	ATG		0.443	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077	Missense_Mutation	26	41	0	0	0	1	0	26	41					C	207827337	T	C	207827337	5	2	48	1	0	0	0	0	0	0	1	0	3822	1478	51	4	802	4	CPO	2	207827337	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	252032	207827337	35372036	807	5275										
FAM119A	151194	broad.mit.edu	37	chr2	208477906	208477906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatcccgttcatagcgaattCggcatgctaaaagaatcaca	7	10	2	1	rs200515055	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:208477906C>T	ENST00000411432.1	-	4	737	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	METTL21A_ENST00000406927.2_Missense_Mutation_p.R174Q|METTL21A_ENST00000477919.1_5'Flank|METTL21A_ENST00000448007.2_Missense_Mutation_p.R174Q|METTL21A_ENST00000272839.3_Missense_Mutation_p.R192Q|METTL21A_ENST00000426075.1_Missense_Mutation_p.R174Q|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000442521.1_Missense_Mutation_p.R174Q|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000425132.1_Intron	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	174					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)	p.R174Q(2)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						ATAGCGAATTCGGCATGCTAA	0.383													C|||	2	0.000399361	0	0.0029	5008	,	,		22019	0		0	False		,,,				2504	0					ENST00000411432.1																			2	Substitution - Missense(2)	p.R174Q(2)	large_intestine(2)	endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						c.(520-522)cGa>cAa		methyltransferase like 21A							150	150	150					2																	208477906		2203	4300	6503	SO:0001583	missense	151194					integral to membrane	methyltransferase activity	g.chr2:208477906C>T	AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"Hepatocellular carcinoma-associated antigen 557b", "heat shock protein 70kDa lysine (K) methyltransferase"	615257	"family with sequence similarity 119, member A"	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.521G>A	2.37:g.208477906C>T	ENSP00000415115:p.Arg174Gln		Somatic				METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000426075.1_Missense_Mutation_p.R174Q|METTL21A_ENST00000442521.1_Missense_Mutation_p.R174Q|METTL21A_ENST00000448007.2_Missense_Mutation_p.R174Q|METTL21A_ENST00000272839.3_Missense_Mutation_p.R192Q|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000406927.2_Missense_Mutation_p.R174Q|METTL21A_ENST00000448823.2_3'UTR	p.R174Q	NM_001127395.1	NP_001120867.1	WXS	Illumina GAIIx	Phase_I	Q8WXB1	MT21A_HUMAN			4	737	-			174					Q53RV0|Q8N1Z9|Q96GH6	Missense_Mutation	SNP	ENST00000411432.1	37	c.521G>A	CCDS2376.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023262	0.93462	.	.	ENSG00000144401	ENST00000411432;ENST00000448007;ENST00000272839;ENST00000406927;ENST00000426075;ENST00000442521	T;T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23;3.23	5.36	5.36	0.76844	.	0.163700	0.52532	D	0.000069	T	0.18173	0.0436	L	0.39692	1.235	0.54753	D	0.999983	D	0.69078	0.997	P	0.58077	0.832	T	0.00587	-1.1657	10	0.31617	T	0.26	-10.1001	19.2753	0.94029	0.0:1.0:0.0:0.0	.	174	Q8WXB1	MT21A_HUMAN	Q	174;174;192;174;174;174	ENSP00000415115:R174Q;ENSP00000407622:R174Q;ENSP00000272839:R192Q;ENSP00000385481:R174Q;ENSP00000403317:R174Q;ENSP00000392062:R174Q	ENSP00000272839:R192Q	R	-	2	0	METTL21A	208186151	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.581000	0.67471	2.797000	0.96272	0.561000	0.74099	CGA		0.383	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280		42	82	0	0	0	1	0	42	82					T	208477906	C	T	208477906	3	4	48	1	0	0	0	0	1	0	0	0	5418	884	31	1	139	1	FAM119A	2	208477906	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	650569	208477906	34721467	808	5276										
CCNYL1	151195	broad.mit.edu	37	chr2	208591568	208591568	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aattttttttattcttagtgCgagaaaagaggaagagcaac	9	4	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:208591568C>T	ENST00000295414.3	+	3	509	c.298C>T	c.(298-300)Cga>Tga	p.R100*	CCNYL1_ENST00000339882.5_Nonsense_Mutation_p.R100*|CCNYL1_ENST00000392209.3_Nonsense_Mutation_p.R30*			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	100					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)		ATTCTTAGTGCGAGAAAAGAG	0.299																																						ENST00000295414.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(298-300)Cga>Tga		cyclin Y-like 1							92	100	97					2																	208591568		2203	4296	6499	SO:0001587	stop_gained	151195				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr2:208591568C>T	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.298C>T	2.37:g.208591568C>T	ENSP00000295414:p.Arg100*		Somatic				CCNYL1_ENST00000392209.3_Nonsense_Mutation_p.R30*|CCNYL1_ENST00000339882.5_Nonsense_Mutation_p.R100*	p.R100*			WXS	Illumina GAIIx	Phase_I	Q8N7R7	CCYL1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)	3	509	+			100					Q6NX60	Nonsense_Mutation	SNP	ENST00000295414.3	37	c.298C>T		.	.	.	.	.	.	.	.	.	.	C	25.2	4.613330	0.87359	.	.	ENSG00000163249	ENST00000392209;ENST00000295414;ENST00000339882	.	.	.	5.39	4.39	0.52855	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.706	0.57061	0.2584:0.7416:0.0:0.0	.	.	.	.	X	30;100;100	.	ENSP00000295414:R100X	R	+	1	2	CCNYL1	208299813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.283000	0.43470	2.687000	0.91594	0.561000	0.74099	CGA		0.299	CCNYL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000337062.1	NM_152523		32	65	0	0	0	1	0	32	65					T	208591568	C	T	208591568	4	4	48	1	0	0	0	0	0	1	0	0	2939	760	27	1	308	1	CCNYL1	2	208591568	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	113662	208591568	34607805	809	5277										
PIKFYVE	200576	broad.mit.edu	37	chr2	209182661	209182661	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taccaagaacattgcacataAaaaggtaatgtgattcagtt	7	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:209182661A>C	ENST00000264380.4	+	16	2236	c.2078A>C	c.(2077-2079)aAa>aCa	p.K693T		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	693					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						ATTGCACATAAAAAGGTAATG	0.378																																						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.(2077-2079)aAa>aCa		phosphoinositide kinase, FYVE finger containing							165	155	159					2																	209182661		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.chr2:209182661A>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.2078A>C	2.37:g.209182661A>C	ENSP00000264380:p.Lys693Thr		Somatic					p.K693T	NM_015040.3	NP_055855.2	WXS	Illumina GAIIx	Phase_I	Q9Y2I7	FYV1_HUMAN			16	2236	+			693					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.2078A>C	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.842609	0.91197	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.77750	-1.12;-1.12	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.89979	0.6872	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.992	D	0.91760	0.5419	10	0.87932	D	0	-21.0811	16.3158	0.82923	1.0:0.0:0.0:0.0	.	693;637	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	T	693;269;637	ENSP00000264380:K693T;ENSP00000405736:K637T	ENSP00000264380:K693T	K	+	2	0	PIKFYVE	208890906	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.940000	0.92958	2.254000	0.74563	0.533000	0.62120	AAA		0.378	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		21	36	0	0	0	1	0	21	36					C	209182661	A	C	209182661	3	2	48	1	0	0	0	0	1	0	0	0	11933	14	1	4	2147	4	PIKFYVE	2	209182661	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	591093	209182661	34016712	810	5278										
MAP2	4133	broad.mit.edu	37	chr2	210557675	210557675	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagagcctccaactccaaaaGaacaaaaggactggttcatc	7	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:210557675G>T	ENST00000360351.4	+	7	1287	c.781G>T	c.(781-783)Gaa>Taa	p.E261*	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.E257*|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	261					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)	AACTCCAAAAGAACAAAAGGA	0.498																																					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.(781-783)Gaa>Taa		microtubule-associated protein 2	Estramustine(DB01196)						60	62	61					2																	210557675		2203	4300	6503	SO:0001587	stop_gained	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.chr2:210557675G>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.781G>T	2.37:g.210557675G>T	ENSP00000353508:p.Glu261*		Somatic				MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.E257*|MAP2_ENST00000392194.1_Intron	p.E261*	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	1287	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	261					Q17S04|Q8IUX2|Q99975|Q99976	Nonsense_Mutation	SNP	ENST00000360351.4	37	c.781G>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590273	0.86851	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	.	.	.	5.98	5.1	0.69264	.	0.341957	0.25114	N	0.033039	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.8955	15.7043	0.77565	0.0:0.1359:0.8641:0.0	.	.	.	.	X	261;343;257	.	ENSP00000353508:E261X	E	+	1	0	MAP2	210265920	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	3.758000	0.55220	1.527000	0.49086	-0.165000	0.13383	GAA		0.498	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		24	57	1	0	1.10923e-09	1	1.34134e-09	24	57					T	210557675	G	T	210557675	4	4	48	1	0	0	0	0	0	1	0	0	9244	943	33	2	795	2	MAP2	2	210557675	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1375014	210557675	32641698	811	5279										
MAP2	4133	broad.mit.edu	37	chr2	210560590	210560590	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtatctgaaccagcagagatTcagagtgaggaagaagagat	13	5	2	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:210560590T>G	ENST00000360351.4	+	7	4202	c.3696T>G	c.(3694-3696)atT>atG	p.I1232M	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I1228M|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1232					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)	CAGCAGAGATTCAGAGTGAGG	0.478																																					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.(3694-3696)atT>atG		microtubule-associated protein 2	Estramustine(DB01196)						63	67	66					2																	210560590		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.chr2:210560590T>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.3696T>G	2.37:g.210560590T>G	ENSP00000353508:p.Ile1232Met		Somatic				MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I1228M|MAP2_ENST00000392194.1_Intron	p.I1232M	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	4202	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1232					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.3696T>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	T	4.999	0.185457	0.09495	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.20881	2.04;2.04	5.52	-3.66	0.04489	MAP2/Tau projection (1);	1.076650	0.07135	N	0.846248	T	0.08891	0.0220	N	0.08118	0	0.09310	N	1	B;B	0.20550	0.037;0.046	B;B	0.15052	0.007;0.012	T	0.33369	-0.9871	10	0.41790	T	0.15	-0.4118	4.754	0.13075	0.3028:0.2662:0.0:0.431	.	1228;1232	P11137-3;P11137	.;MAP2_HUMAN	M	1232;1228	ENSP00000353508:I1232M;ENSP00000392164:I1228M	ENSP00000353508:I1232M	I	+	3	3	MAP2	210268835	0.031000	0.19500	0.034000	0.17996	0.779000	0.44077	-0.356000	0.07661	-0.502000	0.06596	0.528000	0.53228	ATT		0.478	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		24	36	0	0	0	1	0	24	36					G	210560590	T	G	210560590	3	3	48	1	0	0	0	0	1	0	0	0	9244	1771	62	4	3710	4	MAP2	2	210560590	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2915	210560590	32638783	812	5280										
C2orf67	151050	broad.mit.edu	37	chr2	210940291	210940291	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttacctgtggagtccaataAaaagtagggctcaatctgta	9	8	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:210940291A>C	ENST00000281772.9	-	6	2003	c.1740T>G	c.(1738-1740)ttT>ttG	p.F580L	KANSL1L_ENST00000452086.1_Missense_Mutation_p.F580L|KANSL1L_ENST00000457374.1_Missense_Mutation_p.F580L|KANSL1L_ENST00000418791.1_Missense_Mutation_p.F580L	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	580						histone acetyltransferase complex (GO:0000123)											GAGTCCAATAAAAAGTAGGGC	0.403																																						ENST00000281772.9																			0											c.(1738-1740)ttT>ttG		KAT8 regulatory NSL complex subunit 1-like							116	107	110					2																	210940291		2203	4300	6503	SO:0001583	missense	151050							g.chr2:210940291A>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.1740T>G	2.37:g.210940291A>C	ENSP00000281772:p.Phe580Leu		Somatic				KANSL1L_ENST00000452086.1_Missense_Mutation_p.F580L|KANSL1L_ENST00000457374.1_Missense_Mutation_p.F580L|KANSL1L_ENST00000418791.1_Missense_Mutation_p.F580L	p.F580L	NM_152519.2	NP_689732.2	WXS	Illumina GAIIx	Phase_I	A0AUZ9	CB067_HUMAN			6	2003	-			580					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.1740T>G	CCDS33370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.011|5.011	0.187692|0.187692	0.09547|0.09547	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086|ENST00000428655	.|.	.|.	.|.	5.75|5.75	3.4|3.4	0.38934|0.38934	.|.	0.155556|.	0.42294|.	D|.	0.000737|.	T|T	0.41096|0.41096	0.1144|0.1144	L|L	0.36672|0.36672	1.1|1.1	0.33531|0.33531	D|D	0.593669|0.593669	B;B;B;B|.	0.11235|.	0.004;0.004;0.001;0.001|.	B;B;B;B|.	0.13407|.	0.005;0.009;0.006;0.006|.	T|T	0.49224|0.49224	-0.8962|-0.8962	9|5	0.11794|.	T|.	0.64|.	.|.	8.1372|8.1372	0.31061|0.31061	0.8437:0.0:0.1563:0.0|0.8437:0.0:0.1563:0.0	.|.	580;580;580;580|.	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9|.	.;.;.;CB067_HUMAN|.	L|V	580|275	.|.	ENSP00000281772:F580L|.	F|L	-|-	3|1	2|2	C2orf67|C2orf67	210648536|210648536	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.156000|0.156000	0.22039|0.22039	2.187000|2.187000	0.42602|0.42602	0.458000|0.458000	0.26988|0.26988	-0.379000|-0.379000	0.06801|0.06801	TTT|TTA		0.403	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		8	14	0	0	0	1	0	8	14					C	210940291	A	C	210940291	3	2	48	1	0	0	0	0	1	0	0	0	2188	11	1	4	1263	4	C2orf67	2	210940291	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	379701	210940291	32259082	813	5281										
CPS1	1373	broad.mit.edu	37	chr2	211469846	211469846	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcctttgctatgaccaaccaAattctggtggagaagtcagt	10	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:211469846A>G	ENST00000233072.5	+	17	2053	c.1857A>G	c.(1855-1857)caA>caG	p.Q619Q	CPS1_ENST00000430249.2_Silent_p.Q625Q|CPS1_ENST00000451903.2_Silent_p.Q168Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	619	ATP-grasp 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)			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)	TGACCAACCAAATTCTGGTGG	0.398																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(1855-1857)caA>caG		carbamoyl-phosphate synthase 1, mitochondrial							107	100	103					2																	211469846		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.chr2:211469846A>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.1857A>G	2.37:g.211469846A>G			Somatic				CPS1_ENST00000430249.2_Silent_p.Q625Q|CPS1_ENST00000451903.2_Silent_p.Q168Q	p.Q619Q	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)	17	2053	+			619			ATP-grasp 1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.1857A>G	CCDS2393.1																																																																																				0.398	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			10	25	0	0	0	1	0	10	25					G	211469846	A	G	211469846	2	3	48	1	0	0	0	0	0	0	0	1	3825	11	1	4		4	CPS1	2	211469846	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	529555	211469846	31729527	814	5282										
BARD1	580	broad.mit.edu	37	chr2	215632245	215632245	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cataggaaagtaacagcttgActatatccacatgcccattc	6	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:215632245A>G	ENST00000260947.4	-	6	1663	c.1529T>C	c.(1528-1530)gTc>gCc	p.V510A	BARD1_ENST00000449967.2_Missense_Mutation_p.V366A	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	510					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAACAGCTTGACTATATCCAC	0.408									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1528-1530)gTc>gCc		BRCA1 associated RING domain 1							125	114	118					2																	215632245		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215632245A>G		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.1529T>C	2.37:g.215632245A>G	ENSP00000260947:p.Val510Ala		Somatic				BARD1_ENST00000449967.2_Missense_Mutation_p.V366A	p.V510A	NM_000465.2	NP_000456.2	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)	6	1663	-		Renal(323;0.0243)	510					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.1529T>C	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	A	13.32	2.200849	0.38905	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.71222	-0.55;-0.55	5.64	4.47	0.54385	Ankyrin repeat-containing domain (3);	0.138081	0.50627	D	0.000118	T	0.64316	0.2587	L	0.56124	1.755	0.48511	D	0.999668	B;B	0.31274	0.032;0.317	B;B	0.32864	0.085;0.154	T	0.62859	-0.6765	10	0.32370	T	0.25	-12.0244	11.244	0.48985	0.8763:0.0:0.1237:0.0	.	366;510	E7EUI3;Q99728	.;BARD1_HUMAN	A	510;366	ENSP00000260947:V510A;ENSP00000406752:V366A	ENSP00000260947:V510A	V	-	2	0	BARD1	215340490	1.000000	0.71417	0.963000	0.40424	0.985000	0.73830	2.849000	0.48286	2.265000	0.75225	0.482000	0.46254	GTC		0.408	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		11	29	0	0	0	1	0	11	29					G	215632245	A	G	215632245	3	3	48	1	0	0	0	0	1	0	0	0	1312	275	10	4	828	4	BARD1	2	215632245	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	4162399	215632245	27567128	815	5283										
ABCA12	26154	broad.mit.edu	37	chr2	215868969	215868969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttcaatagttcaacagcatCgagtcccacggagaacttta	7	10	2	1	rs200973428		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:215868969C>T	ENST00000272895.7	-	20	2866	c.2647G>A	c.(2647-2649)Gat>Aat	p.D883N	ABCA12_ENST00000389661.4_Missense_Mutation_p.D565N	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	883					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCAACAGCATCGAGTCCCACG	0.333																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(2647-2649)Gat>Aat		ATP-binding cassette, sub-family A (ABC1), member 12							67	70	69					2																	215868969		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215868969C>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.2647G>A	2.37:g.215868969C>T	ENSP00000272895:p.Asp883Asn		Somatic				ABCA12_ENST00000389661.4_Missense_Mutation_p.D565N	p.D883N	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)	20	2866	-		Renal(323;0.127)	883					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.2647G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525296	0.85600	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.84944	-1.92;-1.92	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000005	D	0.85944	0.5815	L	0.49350	1.555	0.80722	D	1	D;P	0.53745	0.962;0.93	B;P	0.48089	0.301;0.566	D	0.86486	0.1794	10	0.52906	T	0.07	.	18.0122	0.89227	0.0:1.0:0.0:0.0	.	883;565	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	N	883;565	ENSP00000272895:D883N;ENSP00000374312:D565N	ENSP00000272895:D883N	D	-	1	0	ABCA12	215577214	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	3.899000	0.56288	2.687000	0.91594	0.563000	0.77884	GAT		0.333	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		9	18	0	0	0	1	0	9	18					T	215868969	C	T	215868969	3	4	48	1	0	0	0	0	1	0	0	0	30	884	31	1	5276	1	ABCA12	2	215868969	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	236724	215868969	27330404	816	5284										
ABCA12	26154	broad.mit.edu	37	chr2	215884496	215884496	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcagattcacaaagaagttCggtcaagtttcgaagttgag	10	6	3	3	rs562998767		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:215884496C>T	ENST00000272895.7	-	12	1531	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	AC072062.3_ENST00000437897.3_RNA|AC072062.3_ENST00000595058.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.E120K|AC072062.3_ENST00000602182.1_RNA|AC072062.3_ENST00000419251.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	438					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAAAGAAGTTCGGTCAAGTTT	0.368													C|||	1	0.000199681	8e-04	0	5008	,	,		18434	0		0	False		,,,				2504	0				Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(1312-1314)Gaa>Aaa		ATP-binding cassette, sub-family A (ABC1), member 12							47	48	48					2																	215884496		2203	4299	6502	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215884496C>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.1312G>A	2.37:g.215884496C>T	ENSP00000272895:p.Glu438Lys		Somatic				ABCA12_ENST00000389661.4_Missense_Mutation_p.E120K	p.E438K	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)	12	1531	-		Renal(323;0.127)	438					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.1312G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312795	0.23908	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.54675	0.56;0.56	6.0	-0.213	0.13165	.	0.680304	0.14617	N	0.308623	T	0.24586	0.0596	N	0.14661	0.345	0.28975	N	0.889014	B;B	0.09022	0.001;0.002	B;B	0.01281	0.0;0.0	T	0.11155	-1.0599	10	0.15066	T	0.55	.	1.4176	0.02305	0.1246:0.2786:0.1991:0.3977	.	438;120	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	K	438;120	ENSP00000272895:E438K;ENSP00000374312:E120K	ENSP00000272895:E438K	E	-	1	0	ABCA12	215592741	0.001000	0.12720	0.523000	0.27875	0.996000	0.88848	-0.514000	0.06298	0.394000	0.25230	0.637000	0.83480	GAA		0.368	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		13	33	0	0	0	1	0	13	33					T	215884496	C	T	215884496	3	4	48	1	0	0	0	0	1	0	0	0	30	893	31	1	6643	1	ABCA12	2	215884496	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	15527	215884496	27314877	817	5285										
VIL1	7429	broad.mit.edu	37	chr2	219296879	219296879	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acctacctcatcggcgagaaGcagcattacctgctctacgt	8	14	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:219296879G>A	ENST00000248444.5	+	12	1402	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K	VIL1_ENST00000392114.2_Silent_p.K127K	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	438	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGGCGAGAAGCAGCATTACC	0.572																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1312-1314)aaG>aaA		villin 1							86	65	72					2																	219296879		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:219296879G>A	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1314G>A	2.37:g.219296879G>A			Somatic				VIL1_ENST00000392114.2_Silent_p.K127K	p.K438K	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)	12	1402	+		Renal(207;0.0474)	438			Core.		B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	c.1314G>A	CCDS2417.1																																																																																				0.572	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		18	28	0	0	0	1	0	18	28					A	219296879	G	A	219296879	2	1	48	1	0	0	0	0	0	0	0	1	17179	962	34	3		3	VIL1	2	219296879	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3412383	219296879	23902494	818	5286										
USP37	57695	broad.mit.edu	37	chr2	219330886	219330886	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagtctttagttatctcagtAaaactggcaggatctgagga	10	7	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:219330886A>C	ENST00000258399.3	-	21	2725	c.2313T>G	c.(2311-2313)ttT>ttG	p.F771L	USP37_ENST00000415516.1_Missense_Mutation_p.F677L|USP37_ENST00000454775.1_Missense_Mutation_p.F771L|USP37_ENST00000418019.1_Missense_Mutation_p.F771L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	771	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)		TTATCTCAGTAAAACTGGCAG	0.378																																						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.(2311-2313)ttT>ttG		ubiquitin specific peptidase 37							111	108	109					2																	219330886		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219330886A>C	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.2313T>G	2.37:g.219330886A>C	ENSP00000258399:p.Phe771Leu		Somatic				USP37_ENST00000415516.1_Missense_Mutation_p.F677L|USP37_ENST00000418019.1_Missense_Mutation_p.F771L|USP37_ENST00000454775.1_Missense_Mutation_p.F771L	p.F771L	NM_020935.2	NP_065986.2	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)	21	2725	-		Renal(207;0.0915)	771					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.2313T>G	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.005350	0.35415	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.38560	1.14;1.14;1.13;1.14	5.46	1.55	0.23275	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.322090	0.33813	N	0.004529	T	0.20047	0.0482	N	0.08118	0	0.80722	D	1	B;B	0.12013	0.004;0.005	B;B	0.10450	0.003;0.005	T	0.04178	-1.0971	10	0.29301	T	0.29	-17.8752	8.7601	0.34669	0.6387:0.0:0.3613:0.0	.	677;771	Q86T82-2;Q86T82	.;UBP37_HUMAN	L	771;771;677;771	ENSP00000258399:F771L;ENSP00000393662:F771L;ENSP00000400902:F677L;ENSP00000396585:F771L	ENSP00000258399:F771L	F	-	3	2	USP37	219039130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.212000	0.32394	0.413000	0.25759	-0.274000	0.10170	TTT		0.378	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		14	40	0	0	0	1	0	14	40					C	219330886	A	C	219330886	3	2	48	1	0	0	0	0	1	0	0	0	17083	359	13	4	650	4	USP37	2	219330886	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	34007	219330886	23868487	819	5287										
PLCD4	84812	broad.mit.edu	37	chr2	219487377	219487377	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acctctcttgcaggcagcagAcacgtcccagtctggaaccc	9	16	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:219487377A>G	ENST00000450993.2	+	6	887	c.548A>G	c.(547-549)gAc>gGc	p.D183G	U3_ENST00000516996.1_RNA|PLCD4_ENST00000432688.1_Missense_Mutation_p.D183G|PLCD4_ENST00000417849.1_Missense_Mutation_p.D183G	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	183	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CAGGCAGCAGACACGTCCCAG	0.373																																						ENST00000450993.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(547-549)gAc>gGc		phospholipase C, delta 4							50	48	48					2																	219487377		1861	4096	5957	SO:0001583	missense	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219487377A>G	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.548A>G	2.37:g.219487377A>G	ENSP00000388631:p.Asp183Gly		Somatic				PLCD4_ENST00000417849.1_Missense_Mutation_p.D183G|PLCD4_ENST00000432688.1_Missense_Mutation_p.D183G	p.D183G	NM_032726.3	NP_116115.1	WXS	Illumina GAIIx	Phase_I	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	6	887	+		Renal(207;0.0915)	183			EF-hand 2.		Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	c.548A>G	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.209778	0.79240	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000457426;ENST00000417849;ENST00000432688	D;D;D	0.92149	-2.98;-2.98;-2.98	4.66	4.66	0.58398	EF-hand-like domain (1);	0.147165	0.64402	D	0.000015	D	0.96275	0.8785	M	0.89287	3.02	0.58432	D	0.999996	D;D	0.67145	0.996;0.984	D;P	0.73380	0.98;0.813	D	0.96930	0.9680	10	0.72032	D	0.01	.	13.9352	0.64021	1.0:0.0:0.0:0.0	.	183;183	B7Z5V4;Q9BRC7	.;PLCD4_HUMAN	G	183	ENSP00000388631:D183G;ENSP00000396942:D183G;ENSP00000396185:D183G	ENSP00000251959:D183G	D	+	2	0	PLCD4	219195621	1.000000	0.71417	0.903000	0.35520	0.803000	0.45373	8.550000	0.90675	1.965000	0.57142	0.533000	0.62120	GAC		0.373	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			9	26	0	0	0	1	0	9	26					G	219487377	A	G	219487377	3	3	48	1	0	0	0	0	1	0	0	0	12042	275	10	4	566	4	PLCD4	2	219487377	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	156491	219487377	23711996	820	5288										
CCDC108	255101	broad.mit.edu	37	chr2	219900213	219900213	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tactggtacctgtacttcatCttctggagtttcaaggatcg	9	9	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:219900213C>A	ENST00000341552.5	-	5	614	c.531G>T	c.(529-531)aaG>aaT	p.K177N	CCDC108_ENST00000453220.1_Missense_Mutation_p.K177N|CCDC108_ENST00000441968.1_Missense_Mutation_p.K177N|CCDC108_ENST00000295729.2_Missense_Mutation_p.K112N|CCDC108_ENST00000324264.6_Missense_Mutation_p.K112N|CCDC108_ENST00000409865.3_Missense_Mutation_p.K166N|CCDC108_ENST00000410037.1_Missense_Mutation_p.K112N	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	177						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)		TGTACTTCATCTTCTGGAGTT	0.468																																						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.(529-531)aaG>aaT		coiled-coil domain containing 108							150	145	147					2																	219900213		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219900213C>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.531G>T	2.37:g.219900213C>A	ENSP00000340776:p.Lys177Asn		Somatic				CCDC108_ENST00000295729.2_Missense_Mutation_p.K112N|CCDC108_ENST00000324264.6_Missense_Mutation_p.K112N|CCDC108_ENST00000409865.3_Missense_Mutation_p.K166N|CCDC108_ENST00000441968.1_Missense_Mutation_p.K177N|CCDC108_ENST00000410037.1_Missense_Mutation_p.K112N|CCDC108_ENST00000453220.1_Missense_Mutation_p.K177N	p.K177N	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	614	-		Renal(207;0.0915)	177					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.531G>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650674	0.67472	.	.	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	5.16	5.16	0.70880	.	0.000000	0.46145	D	0.000310	T	0.53899	0.1825	M	0.80183	2.485	0.41508	D	0.988323	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.74023	0.981;0.982;0.967	T	0.59172	-0.7504	10	0.72032	D	0.01	-20.7676	9.4193	0.38541	0.0:0.8413:0.0:0.1587	.	166;112;177	E9PG25;E9PCR1;Q6ZU64	.;.;CC108_HUMAN	N	177;177;177;166;112;111;166;112;112;112;112	ENSP00000340776:K177N;ENSP00000413377:K177N;ENSP00000409117:K177N;ENSP00000386945:K166N;ENSP00000386258:K112N;ENSP00000393483:K166N;ENSP00000396836:K112N;ENSP00000295729:K112N;ENSP00000313807:K112N;ENSP00000413746:K112N	ENSP00000295729:K112N	K	-	3	2	CCDC108	219608457	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	1.821000	0.39041	2.403000	0.81681	0.462000	0.41574	AAG		0.468	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		27	52	1	0	4.7796e-09	1	5.70246e-09	27	52					A	219900213	C	A	219900213	3	1	48	1	0	0	0	0	1	0	0	0	2745	912	32	2	5518	2	CCDC108	2	219900213	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	412836	219900213	23299160	821	5289										
SLC23A3	151295	broad.mit.edu	37	chr2	220026863	220026863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccctgggcttctgaggcattCgagcctcttgggcagtgaaa	13	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:220026863C>T	ENST00000409878.3	-	12	1633	c.1601G>A	c.(1600-1602)cGa>cAa	p.R534Q	SLC23A3_ENST00000295738.7_Missense_Mutation_p.R417Q|SLC23A3_ENST00000396775.3_3'UTR|NHEJ1_ENST00000356853.5_5'Flank|SLC23A3_ENST00000455516.2_Missense_Mutation_p.R542Q	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	534					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGAGGCATTCGAGCCTCTTG	0.567																																						ENST00000455516.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11						c.(1624-1626)cGa>cAa		solute carrier family 23, member 3							62	64	64					2																	220026863		1999	4165	6164	SO:0001583	missense	151295				transmembrane transport	integral to membrane	protein binding|transporter activity	g.chr2:220026863C>T	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"Solute carriers"	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.1601G>A	2.37:g.220026863C>T	ENSP00000386473:p.Arg534Gln		Somatic				SLC23A3_ENST00000396775.3_3'UTR|SLC23A3_ENST00000295738.7_Missense_Mutation_p.R417Q|SLC23A3_ENST00000409878.3_Missense_Mutation_p.R534Q	p.R542Q	NM_001144890.1	NP_001138362.1	WXS	Illumina GAIIx	Phase_I	Q6PIS1	S23A3_HUMAN		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	1672	-		Renal(207;0.0474)	534					B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	ENST00000409878.3	37	c.1625G>A	CCDS46518.1	.	.	.	.	.	.	.	.	.	.	C	0.565	-0.843727	0.02671	.	.	ENSG00000213901	ENST00000295738;ENST00000409878;ENST00000455516	T;T;T	0.41758	0.99;2.31;2.31	3.4	-6.49	0.01890	.	1.811410	0.03601	N	0.233446	T	0.17408	0.0418	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.13594	0.001;0.008;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.18587	-1.0332	9	.	.	.	.	8.3314	0.32189	0.0:0.2694:0.1164:0.6143	.	534;542;417	Q6PIS1;B7Z512;Q6PIS1-2	S23A3_HUMAN;.;.	Q	417;534;542	ENSP00000295738:R417Q;ENSP00000386473:R534Q;ENSP00000406546:R542Q	.	R	-	2	0	SLC23A3	219735107	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.509000	0.02264	-1.701000	0.01413	-0.379000	0.06801	CGA		0.567	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		10	56	0	0	0	1	0	10	56					T	220026863	C	T	220026863	3	4	48	1	0	0	0	0	1	0	0	0	14479	884	31	1	235	1	SLC23A3	2	220026863	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	126650	220026863	23172510	822	5290										
SLC4A3	6508	broad.mit.edu	37	chr2	220501573	220501573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctcactcattttcatctacGagaccttctacaagctctac	3	14	6	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:220501573G>A	ENST00000358055.3	+	16	3024	c.2512G>A	c.(2512-2514)Gag>Aag	p.E838K	SLC4A3_ENST00000317151.3_Missense_Mutation_p.E838K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E865K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.E865K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.E838K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	838	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)		TTTCATCTACGAGACCTTCTA	0.582																																						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.(2512-2514)Gag>Aag		solute carrier family 4 (anion exchanger), member 3							131	127	128					2																	220501573		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220501573G>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.2512G>A	2.37:g.220501573G>A	ENSP00000350756:p.Glu838Lys		Somatic				SLC4A3_ENST00000373760.2_Missense_Mutation_p.E838K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.E865K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E865K|SLC4A3_ENST00000317151.3_Missense_Mutation_p.E838K	p.E838K			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	3024	+		Renal(207;0.0183)	838			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.2512G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256254	0.95336	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53	4.32	4.32	0.51571	Bicarbonate transporter, C-terminal (1);Anion exchange, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89615	0.6766	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	D	0.91270	0.5043	10	0.87932	D	0	.	17.347	0.87312	0.0:0.0:1.0:0.0	.	542;838;865	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	K	838;838;865;865;101;838	ENSP00000350756:E838K;ENSP00000362865:E838K;ENSP00000273063:E865K;ENSP00000362867:E865K;ENSP00000314006:E838K	ENSP00000273063:E865K	E	+	1	0	SLC4A3	220209817	1.000000	0.71417	0.982000	0.44146	0.985000	0.73830	9.454000	0.97621	2.377000	0.81083	0.643000	0.83706	GAG		0.582	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		37	90	0	0	0	1	0	37	90					A	220501573	G	A	220501573	3	1	48	1	0	0	0	0	1	0	0	0	14670	1059	37	1	2651	1	SLC4A3	2	220501573	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	474710	220501573	22697800	823	5291										
SLC4A3	6508	broad.mit.edu	37	chr2	220502517	220502517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcgcaagttcaggaacagccGcttcctggggggcaaggtgc	16	11	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:220502517G>A	ENST00000358055.3	+	17	3262	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	SLC4A3_ENST00000317151.3_Missense_Mutation_p.R917H|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R944H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R944H|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R917H			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	917	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)		AGGAACAGCCGCTTCCTGGGG	0.622																																						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.(2749-2751)cGc>cAc		solute carrier family 4 (anion exchanger), member 3							67	51	57					2																	220502517		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220502517G>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.2750G>A	2.37:g.220502517G>A	ENSP00000350756:p.Arg917His		Somatic				SLC4A3_ENST00000373760.2_Missense_Mutation_p.R917H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R944H|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R944H|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R917H	p.R917H			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)	17	3262	+		Renal(207;0.0183)	917			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.2750G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286702	0.59867	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	4.7	4.7	0.59300	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79650	0.4482	M	0.62723	1.935	0.58432	D	0.999993	B;P;P	0.43231	0.191;0.801;0.763	B;B;B	0.41571	0.036;0.36;0.179	T	0.78145	-0.2318	10	0.25106	T	0.35	.	18.258	0.90025	0.0:0.0:1.0:0.0	.	621;917;944	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	H	917;917;944;944;177;917	ENSP00000350756:R917H;ENSP00000362865:R917H;ENSP00000273063:R944H;ENSP00000362867:R944H;ENSP00000314006:R917H	ENSP00000273063:R944H	R	+	2	0	SLC4A3	220210761	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.473000	0.45145	2.611000	0.88343	0.551000	0.68910	CGC		0.622	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		22	45	0	0	0	1	0	22	45					A	220502517	G	A	220502517	3	1	48	1	0	0	0	0	1	0	0	0	14670	1087	38	1	2893	1	SLC4A3	2	220502517	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	944	220502517	22696856	824	5292										
EPHA4	2043	broad.mit.edu	37	chr2	222307707	222307707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttgccaggcactttgagaCgcccactgcatacctcacca	7	16	2	1	rs147566564		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:222307707C>T	ENST00000281821.2	-	11	1957	c.1916G>A	c.(1915-1917)cGt>cAt	p.R639H	EPHA4_ENST00000392071.4_Missense_Mutation_p.R588H|EPHA4_ENST00000409938.1_Missense_Mutation_p.R639H|EPHA4_ENST00000409854.1_Missense_Mutation_p.R639H	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	639	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CACTTTGAGACGCCCACTGCA	0.448																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1915-1917)cGt>cAt		EPH receptor A4		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	126	122	123		1916	6.1	1	2	dbSNP_134	123	0,8600		0,0,4300	no	missense	EPHA4	NM_004438.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	639/987	222307707	2,13004	2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222307707C>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1916G>A	2.37:g.222307707C>T	ENSP00000281821:p.Arg639His		Somatic				EPHA4_ENST00000409938.1_Missense_Mutation_p.R639H|EPHA4_ENST00000409854.1_Missense_Mutation_p.R639H|EPHA4_ENST00000392071.4_Missense_Mutation_p.R588H	p.R639H	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)	11	1957	-		Renal(207;0.0183)	639			Protein kinase.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.1916G>A	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868834	0.91587	4.54E-4	0.0	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76133	0.3945	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73585	-0.3936	10	0.49607	T	0.09	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	639	P54764	EPHA4_HUMAN	H	639;639;639;588	ENSP00000281821:R639H;ENSP00000386276:R639H;ENSP00000386829:R639H;ENSP00000375923:R588H	ENSP00000281821:R639H	R	-	2	0	EPHA4	222015951	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.070000	0.71220	2.882000	0.98803	0.655000	0.94253	CGT		0.448	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			16	44	0	0	0	1	0	16	44					T	222307707	C	T	222307707	3	4	48	1	0	0	0	0	1	0	0	0	5171	536	19	1	1072	1	EPHA4	2	222307707	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1805190	222307707	20891666	825	5293										
FARSB	10056	broad.mit.edu	37	chr2	223513464	223513464	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atatccaatacatacaatttCatcaagctccagaccaaatt	2	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:223513464C>A	ENST00000281828.6	-	2	372	c.109G>T	c.(109-111)Gaa>Taa	p.E37*	FARSB_ENST00000536361.1_5'UTR	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	37					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	CATACAATTTCATCAAGCTCC	0.299																																						ENST00000281828.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(109-111)Gaa>Taa		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						118	121	120					2																	223513464		2203	4300	6503	SO:0001587	stop_gained	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223513464C>A	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	17800	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, beta, cytoplasmic"	609690	"phenylalanyl-tRNA synthetase-like, beta subunit"	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.109G>T	2.37:g.223513464C>A	ENSP00000281828:p.Glu37*		Somatic				FARSB_ENST00000536361.1_5'UTR	p.E37*	NM_005687.3	NP_005678.3	WXS	Illumina GAIIx	Phase_I	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	2	372	-		Renal(207;0.0183)	37					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Nonsense_Mutation	SNP	ENST00000281828.6	37	c.109G>T	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	C	40	8.205914	0.98704	.	.	ENSG00000116120	ENST00000281828	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-22.5952	19.3709	0.94484	0.0:1.0:0.0:0.0	.	.	.	.	X	37	.	ENSP00000281828:E37X	E	-	1	0	FARSB	223221708	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.029000	0.76477	2.576000	0.86940	0.655000	0.94253	GAA		0.299	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		21	55	1	0	4.30721e-22	1	5.97715e-22	21	55					A	223513464	C	A	223513464	4	1	48	1	0	0	0	0	0	1	0	0	5688	835	29	2	1724	2	FARSB	2	223513464	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1205757	223513464	19685909	826	5294										
MRPL44	65080	broad.mit.edu	37	chr2	224822309	224822309	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggattccgcgccgccttccgCttccagaaggagttagagcg	13	13	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:224822309C>A	ENST00000258383.3	+	1	189	c.120C>A	c.(118-120)cgC>cgA	p.R40R		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	40					mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCGCCTTCCGCTTCCAGAAGG	0.692																																						ENST00000258383.3																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(118-120)cgC>cgA		mitochondrial ribosomal protein L44							22	25	24					2																	224822309		2203	4300	6503	SO:0001819	synonymous_variant	65080				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity	g.chr2:224822309C>A	AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"Mitochondrial ribosomal proteins / large subunits"	16650	protein-coding gene	gene with protein product	"39S ribosomal protein L44, mitochondrial"	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.120C>A	2.37:g.224822309C>A			Somatic					p.R40R	NM_022915.3	NP_075066.1	WXS	Illumina GAIIx	Phase_I	Q9H9J2	RM44_HUMAN		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	189	+		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)	40					Q53S16|Q6IA62|Q9H821	Silent	SNP	ENST00000258383.3	37	c.120C>A	CCDS2459.1																																																																																				0.692	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915		10	35	1	0	2.17888e-05	1	2.39107e-05	10	35					A	224822309	C	A	224822309	2	1	48	1	0	0	0	0	0	0	0	1	9817	784	28	5		5	MRPL44	2	224822309	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1308845	224822309	18377064	827	5295										
DOCK10	55619	broad.mit.edu	37	chr2	225662652	225662652	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatcaaagacccttttcatcAatgaattttgacagtcacat	4	9	4	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:225662652A>G	ENST00000258390.7	-	42	4608	c.4541T>C	c.(4540-4542)tTg>tCg	p.L1514S	DOCK10_ENST00000409592.3_Missense_Mutation_p.L1508S	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1514					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)		CCTTTTCATCAATGAATTTTG	0.368																																						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.(4522-4524)tTg>tCg		dedicator of cytokinesis 10							89	88	88					2																	225662652		1887	4116	6003	SO:0001583	missense	55619						GTP binding	g.chr2:225662652A>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4541T>C	2.37:g.225662652A>G	ENSP00000258390:p.Leu1514Ser		Somatic				DOCK10_ENST00000258390.7_Missense_Mutation_p.L1514S	p.L1508S			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)	42	4636	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1514					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.4523T>C	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.237851	0.58886	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.61274	3.45;0.12	5.95	4.74	0.60224	.	0.412070	0.25958	N	0.027202	T	0.68026	0.2956	M	0.76838	2.35	0.35739	D	0.818503	B;B;B;P	0.40032	0.148;0.03;0.415;0.699	B;B;B;P	0.48901	0.093;0.027;0.19;0.594	T	0.79097	-0.1943	10	0.87932	D	0	.	12.9148	0.58200	0.8648:0.1352:0.0:0.0	.	1514;368;1508;176	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	S	1508;1514;52	ENSP00000386694:L1508S;ENSP00000258390:L1514S	ENSP00000258390:L1514S	L	-	2	0	DOCK10	225370896	1.000000	0.71417	0.529000	0.27951	0.991000	0.79684	5.668000	0.68074	2.279000	0.76181	0.533000	0.62120	TTG		0.368	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			22	27	0	0	0	1	0	22	27					G	225662652	A	G	225662652	3	3	48	1	0	0	0	0	1	0	0	0	4687	131	5	4	2079	4	DOCK10	2	225662652	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	840343	225662652	17536721	828	5296										
DOCK10	55619	broad.mit.edu	37	chr2	225668910	225668910	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgggtggactgcacaaatTtaaatgcagcagcaattttt	9	7	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:225668910T>G	ENST00000258390.7	-	39	4254	c.4187A>C	c.(4186-4188)aAa>aCa	p.K1396T	DOCK10_ENST00000409592.3_Missense_Mutation_p.K1390T	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1396					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)		CTGCACAAATTTAAATGCAGC	0.373																																						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.(4168-4170)aAa>aCa		dedicator of cytokinesis 10							84	81	82					2																	225668910		1827	4080	5907	SO:0001583	missense	55619						GTP binding	g.chr2:225668910T>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4187A>C	2.37:g.225668910T>G	ENSP00000258390:p.Lys1396Thr		Somatic				DOCK10_ENST00000258390.7_Missense_Mutation_p.K1396T	p.K1390T			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)	39	4282	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1396					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.4169A>C	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.2|26.2	4.711718|4.711718	0.89112|0.89112	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000409592;ENST00000258390|ENST00000422684	T;T|.	0.66280|.	4.67;-0.2|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.452223|.	0.24640|.	N|.	0.036814|.	T|T	0.68320|0.68320	0.2988|0.2988	L|L	0.51422|0.51422	1.61|1.61	0.48511|0.48511	D|D	0.999662|0.999662	D;D;P;B|.	0.71674|.	0.996;0.998;0.642;0.41|.	P;D;B;B|.	0.76071|.	0.867;0.987;0.13;0.071|.	T|T	0.66056|0.66056	-0.6018|-0.6018	10|5	0.40728|.	T|.	0.16|.	.|.	15.9389|15.9389	0.79739|0.79739	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1396;250;1390;58|.	Q96BY6;B4DF07;B3FL70;B4DEY4|.	DOC10_HUMAN;.;.;.|.	T|H	1390;1396|278	ENSP00000386694:K1390T;ENSP00000258390:K1396T|.	ENSP00000258390:K1396T|.	K|N	-|-	2|1	0|0	DOCK10|DOCK10	225377154|225377154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.609000|7.609000	0.82925|0.82925	2.165000|2.165000	0.68154|0.68154	0.477000|0.477000	0.44152|0.44152	AAA|AAT		0.373	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			7	19	0	0	0	1	0	7	19					G	225668910	T	G	225668910	3	3	48	1	0	0	0	0	1	0	0	0	4687	1841	64	4	2445	4	DOCK10	2	225668910	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	6258	225668910	17530463	829	5297										
DOCK10	55619	broad.mit.edu	37	chr2	225672668	225672668	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaatgaatgcttagccattAgattttttaggacagctaaa	7	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:225672668A>C	ENST00000258390.7	-	32	3612	c.3545T>G	c.(3544-3546)cTa>cGa	p.L1182R	DOCK10_ENST00000409592.3_Missense_Mutation_p.L1176R	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1182					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)		CTTAGCCATTAGATTTTTTAG	0.423																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(3526-3528)cTa>cGa		dedicator of cytokinesis 10							90	87	88					2																	225672668		1880	4104	5984	SO:0001583	missense	55619						GTP binding	g.chr2:225672668A>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3545T>G	2.37:g.225672668A>C	ENSP00000258390:p.Leu1182Arg		Somatic				DOCK10_ENST00000258390.7_Missense_Mutation_p.L1182R	p.L1176R			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)	32	3640	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1182					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.3527T>G	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.3|25.3	4.620006|4.620006	0.87460|0.87460	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000409592;ENST00000258390|ENST00000422684	T;T|.	0.73363|.	3.07;-0.74|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.075172|.	0.53938|.	D|.	0.000044|.	D|.	0.83468|.	0.5261|.	M|M	0.89785|0.89785	3.06|3.06	0.51012|0.51012	D|D	0.999902|0.999902	D;P;D|.	0.57257|.	0.979;0.623;0.963|.	P;P;P|.	0.59948|.	0.827;0.503;0.866|.	D|.	0.86878|.	0.2040|.	10|.	0.87932|.	D|.	0|.	.|.	15.4767|15.4767	0.75485|0.75485	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1182;45;1176|.	Q96BY6;B4DF07;B3FL70|.	DOC10_HUMAN;.;.|.	R|E	1176;1182|73	ENSP00000386694:L1176R;ENSP00000258390:L1182R|.	ENSP00000258390:L1182R|.	L|X	-|-	2|1	0|0	DOCK10|DOCK10	225380912|225380912	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.997000|0.997000	0.91878|0.91878	8.665000|8.665000	0.91144|0.91144	2.097000|2.097000	0.63578|0.63578	0.477000|0.477000	0.44152|0.44152	CTA|TAA		0.423	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			4	10	0	0	0	1	0	4	10					C	225672668	A	C	225672668	3	2	48	1	0	0	0	0	1	0	0	0	4687	420	15	4	3115	4	DOCK10	2	225672668	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	3758	225672668	17526705	830	5298										
DOCK10	55619	broad.mit.edu	37	chr2	225761087	225761087	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccactgggaactataaaatTtacaagcctgaaagaaagaa	8	7	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:225761087T>G	ENST00000258390.7	-	4	408	c.341A>C	c.(340-342)aAa>aCa	p.K114T	DOCK10_ENST00000474102.1_5'UTR|DOCK10_ENST00000409592.3_Missense_Mutation_p.K108T	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	114					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)		ACTATAAAATTTACAAGCCTG	0.383																																						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.(322-324)aAa>aCa		dedicator of cytokinesis 10							39	35	37					2																	225761087		1791	4060	5851	SO:0001583	missense	55619						GTP binding	g.chr2:225761087T>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.341A>C	2.37:g.225761087T>G	ENSP00000258390:p.Lys114Thr		Somatic				DOCK10_ENST00000474102.1_5'UTR|DOCK10_ENST00000258390.7_Missense_Mutation_p.K114T	p.K108T			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)	4	436	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	114					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.323A>C	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.057872	0.55325	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.48836	0.8;0.8	5.32	5.32	0.75619	.	0.093324	0.64402	D	0.000001	T	0.47395	0.1443	M	0.64567	1.98	0.37848	D	0.929286	P;B;P	0.34743	0.466;0.36;0.466	B;B;B	0.38264	0.269;0.102;0.269	T	0.56739	-0.7929	10	0.56958	D	0.05	.	10.0512	0.42216	0.0:0.0755:0.0:0.9245	.	114;114;108	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	T	108;114	ENSP00000386694:K108T;ENSP00000258390:K114T	ENSP00000258390:K114T	K	-	2	0	DOCK10	225469331	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.199000	0.58426	2.152000	0.67230	0.529000	0.55759	AAA		0.383	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			7	13	0	0	0	1	0	7	13					G	225761087	T	G	225761087	3	3	48	1	0	0	0	0	1	0	0	0	4687	1841	64	4	6431	4	DOCK10	2	225761087	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	88419	225761087	17438286	831	5299										
MFF	56947	broad.mit.edu	37	chr2	228207487	228207487	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagatcagattctgccccaaGaaataaaatttcaaggttcc	6	10	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:228207487G>T	ENST00000353339.3	+	7	986	c.545G>T	c.(544-546)aGa>aTa	p.R182I	MFF_ENST00000524634.1_Intron|MFF_ENST00000337110.7_Missense_Mutation_p.R156I|MFF_ENST00000476924.1_Intron|MFF_ENST00000304593.9_Intron|MFF_ENST00000392059.1_Missense_Mutation_p.R182I|MFF_ENST00000349901.7_Intron|MFF_ENST00000354503.6_Intron|MFF_ENST00000409616.1_Intron|MFF_ENST00000409565.1_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	182					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						TCTGCCCCAAGAAATAAAATT	0.348																																						ENST00000353339.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(544-546)aGa>aTa		mitochondrial fission factor							74	78	77					2																	228207487		2203	4300	6503	SO:0001583	missense	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228207487G>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.545G>T	2.37:g.228207487G>T	ENSP00000302037:p.Arg182Ile		Somatic				MFF_ENST00000354503.6_Intron|MFF_ENST00000304593.9_Intron|MFF_ENST00000524634.1_Intron|MFF_ENST00000349901.7_Intron|MFF_ENST00000337110.7_Missense_Mutation_p.R156I|MFF_ENST00000409616.1_Intron|MFF_ENST00000476924.1_Intron|MFF_ENST00000392059.1_Missense_Mutation_p.R182I|MFF_ENST00000409565.1_Intron	p.R182I	NM_001277061.1	NP_001263990.1	WXS	Illumina GAIIx	Phase_I	Q9GZY8	MFF_HUMAN			7	986	+			182					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	c.545G>T	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318475	0.60524	.	.	ENSG00000168958	ENST00000353339;ENST00000530359;ENST00000337110;ENST00000534203;ENST00000392059	T;T	0.33438	1.41;1.41	5.31	5.31	0.75309	.	0.074094	0.51477	D	0.000095	T	0.42108	0.1188	N	0.22421	0.69	0.54753	D	0.999984	D;D	0.67145	0.962;0.996	P;D	0.75020	0.605;0.985	T	0.20306	-1.0279	10	0.38643	T	0.18	-8.4793	17.5049	0.87742	0.0:0.0:1.0:0.0	.	156;182	Q9GZY8-3;Q9GZY8	.;MFF_HUMAN	I	182;27;156;27;182	ENSP00000302037:R182I;ENSP00000375912:R182I	ENSP00000338412:R156I	R	+	2	0	MFF	227915731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.069000	0.71209	2.644000	0.89710	0.655000	0.94253	AGA		0.348	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		16	56	1	0	4.7546e-09	1	5.67505e-09	16	56					T	228207487	G	T	228207487	3	4	48	1	0	0	0	0	1	0	0	0	9528	942	33	2	563	2	MFF	2	228207487	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2446400	228207487	14991886	832	5300										
MFF	56947	broad.mit.edu	37	chr2	228221712	228221712	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttcacttagataatcaaacTaaatagacgtctacaacttc	3	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:228221712T>C	ENST00000353339.3	+	11	1349	c.908T>C	c.(907-909)cTa>cCa	p.L303P	MFF_ENST00000524634.1_Missense_Mutation_p.L50P|MFF_ENST00000337110.7_Missense_Mutation_p.L204P|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000304593.9_Missense_Mutation_p.L252P|MFF_ENST00000392059.1_Missense_Mutation_p.L303P|MFF_ENST00000349901.7_Missense_Mutation_p.L199P|MFF_ENST00000354503.6_Missense_Mutation_p.L179P|MFF_ENST00000409616.1_Missense_Mutation_p.L199P|MFF_ENST00000409565.1_Missense_Mutation_p.L179P	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	303					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						ATAATCAAACTAAATAGACGT	0.308																																						ENST00000353339.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(907-909)cTa>cCa		mitochondrial fission factor							83	87	85					2																	228221712		2203	4300	6503	SO:0001583	missense	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228221712T>C	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.908T>C	2.37:g.228221712T>C	ENSP00000302037:p.Leu303Pro		Somatic				MFF_ENST00000354503.6_Missense_Mutation_p.L179P|MFF_ENST00000304593.9_Missense_Mutation_p.L252P|MFF_ENST00000524634.1_Missense_Mutation_p.L50P|MFF_ENST00000349901.7_Missense_Mutation_p.L199P|MFF_ENST00000337110.7_Missense_Mutation_p.L204P|MFF_ENST00000409616.1_Missense_Mutation_p.L199P|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000392059.1_Missense_Mutation_p.L303P|MFF_ENST00000409565.1_Missense_Mutation_p.L179P	p.L303P	NM_001277061.1	NP_001263990.1	WXS	Illumina GAIIx	Phase_I	Q9GZY8	MFF_HUMAN			11	1349	+			303					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	c.908T>C	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.079464	0.76528	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000409616;ENST00000337110;ENST00000524634;ENST00000349901;ENST00000392059;ENST00000456345	T;T	0.52983	0.64;0.64	6.07	6.07	0.98685	.	0.066761	0.64402	D	0.000015	T	0.68044	0.2958	M	0.67397	2.05	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.997;0.999	D;D;D;D;D	0.80764	0.982;0.994;0.987;0.94;0.98	T	0.70687	-0.4803	10	0.87932	D	0	-14.9335	16.6407	0.85098	0.0:0.0:0.0:1.0	.	179;204;199;252;303	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;Q9GZY8-2;Q9GZY8	.;.;.;.;MFF_HUMAN	P	252;303;179;179;199;204;50;199;303;115	ENSP00000302037:L303P;ENSP00000375912:L303P	ENSP00000304898:L252P	L	+	2	0	MFF	227929956	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	7.378000	0.79679	2.326000	0.78906	0.533000	0.62120	CTA		0.308	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		6	109	0	0	0	1	0	6	109					C	228221712	T	C	228221712	3	2	48	1	0	0	0	0	1	0	0	0	9528	1522	53	4	942	4	MFF	2	228221712	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	14225	228221712	14977661	833	5301										
AGFG1	3267	broad.mit.edu	37	chr2	228416723	228416723	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catgcccacaggattcggcaCtcctgctccctacagtcttc	7	17	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:228416723C>A	ENST00000310078.8	+	11	1687	c.1427C>A	c.(1426-1428)aCt>aAt	p.T476N	AGFG1_ENST00000373671.3_Missense_Mutation_p.T436N|AGFG1_ENST00000409979.2_Missense_Mutation_p.T500N|AGFG1_ENST00000409315.1_Missense_Mutation_p.T455N|AGFG1_ENST00000409171.1_Missense_Mutation_p.T476N	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	476					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						GGATTCGGCACTCCTGCTCCC	0.507																																						ENST00000310078.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						c.(1426-1428)aCt>aAt		ArfGAP with FG repeats 1							148	132	137					2																	228416723		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.chr2:228416723C>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.1427C>A	2.37:g.228416723C>A	ENSP00000312059:p.Thr476Asn		Somatic				AGFG1_ENST00000373671.3_Missense_Mutation_p.T436N|AGFG1_ENST00000409979.2_Missense_Mutation_p.T500N|AGFG1_ENST00000409315.1_Missense_Mutation_p.T455N|AGFG1_ENST00000409171.1_Missense_Mutation_p.T476N	p.T476N	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	WXS	Illumina GAIIx	Phase_I	P52594	AGFG1_HUMAN			11	1687	+			476					B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	c.1427C>A	CCDS2467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.56|14.56	2.572042|2.572042	0.45798|0.45798	.|.	.|.	ENSG00000173744|ENSG00000173744	ENST00000458212|ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171	.|T;T;T;T;T	.|0.23754	.|1.99;1.92;1.94;1.89;1.91	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.100004	.|0.64402	.|D	.|0.000003	T|T	0.16257|0.16257	0.0391|0.0391	N|N	0.10874|0.10874	0.06|0.06	0.45867|0.45867	D|D	0.998725|0.998725	.|B;B;B;B	.|0.15141	.|0.012;0.002;0.005;0.002	.|B;B;B;B	.|0.12156	.|0.007;0.003;0.006;0.002	T|T	0.10965|0.10965	-1.0607|-1.0607	5|10	.|0.14656	.|T	.|0.56	.|.	19.3979|19.3979	0.94614|0.94614	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|436;476;500;476	.|P52594-2;P52594-3;E9PHX7;P52594	.|.;.;.;AGFG1_HUMAN	I|N	46|500;485;476;455;436;476	.|ENSP00000387282:T500N;ENSP00000312059:T476N;ENSP00000387154:T455N;ENSP00000362775:T436N;ENSP00000387218:T476N	.|ENSP00000312059:T476N	L|T	+|+	1|2	0|0	AGFG1|AGFG1	228124967|228124967	1.000000|1.000000	0.71417|0.71417	0.061000|0.061000	0.19648|0.19648	0.894000|0.894000	0.52154|0.52154	5.696000|5.696000	0.68287|0.68287	2.587000|2.587000	0.87381|0.87381	0.467000|0.467000	0.42956|0.42956	CTC|ACT		0.507	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504		5	110	1	0	0.217242	1	0.218251	5	110					A	228416723	C	A	228416723	3	1	48	1	0	0	0	0	1	0	0	0	380	565	20	5	1545	5	AGFG1	2	228416723	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	195011	228416723	14782650	834	5302										
SPHKAP	80309	broad.mit.edu	37	chr2	228858265	228858265	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttacttaatcatgggagaaGatggcatgctttcctgataa	9	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:228858265G>T	ENST00000392056.3	-	9	4752	c.4706C>A	c.(4705-4707)tCt>tAt	p.S1569Y	SPHKAP_ENST00000344657.5_Intron	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1569						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)		CATGGGAGAAGATGGCATGCT	0.423																																						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.(4705-4707)tCt>tAt		SPHK1 interactor, AKAP domain containing							107	84	91					2																	228858265		1568	3582	5150	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228858265G>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.4706C>A	2.37:g.228858265G>T	ENSP00000375909:p.Ser1569Tyr		Somatic				SPHKAP_ENST00000344657.5_Intron	p.S1569Y	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)	9	4752	-		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)	1569					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4706C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318126	0.81469	.	.	ENSG00000153820	ENST00000392056	T	0.13420	2.59	6.06	6.06	0.98353	.	0.866628	0.09248	U	0.828271	T	0.33933	0.0880	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.00240	-1.1887	10	0.33940	T	0.23	.	17.7768	0.88511	0.0:0.0:1.0:0.0	.	1569	Q2M3C7	SPKAP_HUMAN	Y	1569	ENSP00000375909:S1569Y	ENSP00000375909:S1569Y	S	-	2	0	SPHKAP	228566509	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.394000	0.73223	2.882000	0.98803	0.655000	0.94253	TCT		0.423	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		3	5	1	0	0.115264	1	0.116507	3	5					T	228858265	G	T	228858265	3	4	48	1	0	0	0	0	1	0	0	0	15063	942	33	2	412	2	SPHKAP	2	228858265	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	441542	228858265	14341108	835	5303										
SPHKAP	80309	broad.mit.edu	37	chr2	228884217	228884217	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccatctggactctgaacaacGacgattttggggagctcatt	10	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:228884217G>A	ENST00000392056.3	-	7	1399	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	SPHKAP_ENST00000344657.5_Silent_p.V451V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	451						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)		TCTGAACAACGACGATTTTGG	0.507																																						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.(1351-1353)gtC>gtT		SPHK1 interactor, AKAP domain containing							100	98	99					2																	228884217		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228884217G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1353C>T	2.37:g.228884217G>A			Somatic				SPHKAP_ENST00000344657.5_Silent_p.V451V	p.V451V	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	1399	-		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)	451					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.1353C>T	CCDS46537.1																																																																																				0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		26	58	0	0	0	1	0	26	58					A	228884217	G	A	228884217	2	1	48	1	0	0	0	0	0	0	0	1	15063	1045	37	1		1	SPHKAP	2	228884217	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	25952	228884217	14315156	836	5304										
DNER	92737	broad.mit.edu	37	chr2	230411675	230411675	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccccttacctctgacggcttCgtggtgcattttccttttcc	7	15	1	1	rs375308811	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:230411675C>T	ENST00000341772.4	-	5	1115	c.981G>A	c.(979-981)acG>acA	p.T327T		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	327	EGF-like 3. {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)		CTGACGGCTTCGTGGTGCATT	0.453													C|||	3	0.000599042	0.0023	0	5008	,	,		22451	0		0	False		,,,				2504	0					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.(979-981)acG>acA		delta/notch-like EGF repeat containing		C		1,4405	2.1+/-5.4	0,1,2202	209	170	183		981	-2	1	2		183	0,8600		0,0,4300	no	coding-synonymous	DNER	NM_139072.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		327/738	230411675	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:230411675C>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.981G>A	2.37:g.230411675C>T			Somatic					p.T327T	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)	5	1115	-		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)	327			EGF-like 3.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Silent	SNP	ENST00000341772.4	37	c.981G>A	CCDS33390.1																																																																																				0.453	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		45	80	0	0	0	1	0	45	80					T	230411675	C	T	230411675	2	4	48	1	0	0	0	0	0	0	0	1	4669	871	31	1		1	DNER	2	230411675	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1527458	230411675	12787698	837	5305										
TRIP12	9320	broad.mit.edu	37	chr2	230642058	230642058	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttatcttgttcaagtcttttCttctgtctgacaatgtcttc	5	9	7	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:230642058C>A	ENST00000283943.5	-	36	5455	c.5277G>T	c.(5275-5277)aaG>aaT	p.K1759N	TRIP12_ENST00000389044.4_Missense_Mutation_p.K1807N|TRIP12_ENST00000389045.3_Missense_Mutation_p.K1489N	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1759					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)		CAAGTCTTTTCTTCTGTCTGA	0.378																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5275-5277)aaG>aaT		thyroid hormone receptor interactor 12							208	203	205					2																	230642058		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.chr2:230642058C>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.5277G>T	2.37:g.230642058C>A	ENSP00000283943:p.Lys1759Asn		Somatic				TRIP12_ENST00000389045.3_Missense_Mutation_p.K1489N|TRIP12_ENST00000389044.4_Missense_Mutation_p.K1807N	p.K1759N	NM_004238.1	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)	36	5455	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1759					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.5277G>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243495	0.79912	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044;ENST00000418123	T;T;T;T	0.58652	0.32;0.32;0.32;0.66	5.92	5.04	0.67666	HECT (4);	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	M	0.64404	1.975	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.991	D;D;D	0.78314	0.991;0.991;0.991	T	0.72547	-0.4260	10	0.72032	D	0.01	.	11.7693	0.51949	0.0:0.8666:0.0:0.1334	.	1489;1807;1759	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	N	1759;1489;1807;57	ENSP00000283943:K1759N;ENSP00000373697:K1489N;ENSP00000373696:K1807N;ENSP00000408330:K57N	ENSP00000283943:K1759N	K	-	3	2	TRIP12	230350302	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.884000	0.48562	2.809000	0.96659	0.467000	0.42956	AAG		0.378	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		50	64	1	0	3.19319e-46	1	4.62646e-46	50	64					A	230642058	C	A	230642058	3	1	48	1	0	0	0	0	1	0	0	0	16571	912	32	2	725	2	TRIP12	2	230642058	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	230383	230642058	12557315	838	5306										
NCL	4691	broad.mit.edu	37	chr2	232322392	232322392	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttccacctctatagtcttgaTtttgacctttctctccagta	4	12	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:232322392T>G	ENST00000322723.4	-	9	1649	c.1409A>C	c.(1408-1410)aAt>aCt	p.N470T	SNORD20_ENST00000384550.1_RNA|SNORA75_ENST00000384158.1_RNA|SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	470					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)		ATAGTCTTGATTTTGACCTTT	0.418																																						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.(1408-1410)aAt>aCt		nucleolin							161	156	157					2																	232322392		2202	4300	6502	SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232322392T>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.1409A>C	2.37:g.232322392T>G	ENSP00000318195:p.Asn470Thr		Somatic					p.N470T	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)	9	1649	-		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)	470					Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	c.1409A>C	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.643611	0.29246	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000356936	D;T	0.84070	-1.8;-0.8	5.52	-4.31	0.03698	Nucleotide-binding, alpha-beta plait (1);	1.169020	0.05990	N	0.645857	T	0.75295	0.3830	N	0.20986	0.625	0.09310	N	1	P	0.35383	0.498	B	0.39660	0.306	T	0.64326	-0.6434	10	0.35671	T	0.21	0.0348	14.471	0.67517	0.0:0.3019:0.0:0.6981	.	470	P19338	NUCL_HUMAN	T	470;362;242;71	ENSP00000318195:N470T;ENSP00000349410:N71T	ENSP00000318195:N470T	N	-	2	0	NCL	232030636	0.091000	0.21658	0.133000	0.22050	0.972000	0.66771	0.085000	0.14912	-1.376000	0.02126	-0.479000	0.04858	AAT		0.418	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		38	61	0	0	0	1	0	38	61					G	232322392	T	G	232322392	3	3	48	1	0	0	0	0	1	0	0	0	10235	1493	52	4	747	4	NCL	2	232322392	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1680334	232322392	10876981	839	5307										
COPS7B	64708	broad.mit.edu	37	chr2	232660931	232660931	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagggcaagctggaccagcGaaaccagctgctggaagtgg	15	11	0	0	rs147144693		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:232660931G>A	ENST00000350033.3	+	5	584	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	COPS7B_ENST00000409295.1_Missense_Mutation_p.R114Q|COPS7B_ENST00000410024.1_Missense_Mutation_p.R148Q|COPS7B_ENST00000373608.3_Missense_Mutation_p.R148Q|COPS7B_ENST00000409091.1_Missense_Mutation_p.R41Q|COPS7B_ENST00000410017.1_Missense_Mutation_p.R148Q	NM_001282949.1|NM_022730.1	NP_001269878.1|NP_073567.1	Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	148	PCI.				cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CTGGACCAGCGAAACCAGCTG	0.483																																						ENST00000373608.3																			0				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8						c.(442-444)cGa>cAa		COP9 signalosome subunit 7B		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	84	74	77		443	5.6	1	2	dbSNP_134	77	0,8600		0,0,4300	no	missense	COPS7B	NM_022730.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	148/265	232660931	1,13005	2203	4300	6503	SO:0001583	missense	64708				cullin deneddylation	cytoplasm|signalosome		g.chr2:232660931G>A	AK022674	CCDS2488.1, CCDS63152.1, CCDS63153.1, CCDS63154.1, CCDS74668.1	2q37.1	2013-03-14	2013-03-14		ENSG00000144524	ENSG00000144524			16760	protein-coding gene	gene with protein product			"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7B", "COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis)"			9707402	Standard	NM_001282950		Approved	CSN7B	uc002vsg.1	Q9H9Q2	OTTHUMG00000133228	ENST00000350033.3:c.443G>A	2.37:g.232660931G>A	ENSP00000272995:p.Arg148Gln		Somatic				COPS7B_ENST00000410024.1_Missense_Mutation_p.R148Q|COPS7B_ENST00000410017.1_Missense_Mutation_p.R148Q|COPS7B_ENST00000409295.1_Missense_Mutation_p.R114Q|COPS7B_ENST00000409091.1_Missense_Mutation_p.R41Q|COPS7B_ENST00000350033.3_Missense_Mutation_p.R148Q	p.R148Q			WXS	Illumina GAIIx	Phase_I	Q9H9Q2	CSN7B_HUMAN		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	5	550	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)	148			PCI.		Q53S22|Q5BJG3|Q9H7V6	Missense_Mutation	SNP	ENST00000350033.3	37	c.443G>A	CCDS2488.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197327	0.79015	2.27E-4	0.0	ENSG00000144524	ENST00000410024;ENST00000409295;ENST00000409091;ENST00000350033;ENST00000412591;ENST00000410017;ENST00000373608;ENST00000537799;ENST00000449174	T;T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65;1.65	5.57	5.57	0.84162	Proteasome component (PCI) domain (2);	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	N	0.19112	0.55	0.80722	D	1	D;B;D	0.69078	0.985;0.289;0.997	P;B;D	0.72982	0.566;0.057;0.979	T	0.09997	-1.0649	10	0.11794	T	0.64	-15.501	19.5418	0.95277	0.0:0.0:1.0:0.0	.	148;148;148	Q53GQ2;Q9H9Q2-3;Q9H9Q2	.;.;CSN7B_HUMAN	Q	148;114;41;148;93;148;148;41;12	ENSP00000386567:R148Q;ENSP00000386438:R114Q;ENSP00000386527:R41Q;ENSP00000272995:R148Q;ENSP00000412548:R93Q;ENSP00000386880:R148Q;ENSP00000362710:R148Q	ENSP00000272995:R148Q	R	+	2	0	COPS7B	232369175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.971000	0.88012	2.610000	0.88304	0.655000	0.94253	CGA		0.483	COPS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256964.2	NM_022730		31	33	0	0	0	1	0	31	33					A	232660931	G	A	232660931	3	1	48	1	0	0	0	0	1	0	0	0	3741	1058	37	1	457	1	COPS7B	2	232660931	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	338539	232660931	10538442	840	5308										
EFHD1	80303	broad.mit.edu	37	chr2	233498584	233498584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgccgacgcggagctgagcgCccagctgagccggcggctgg	18	15	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:233498584C>T	ENST00000264059.3	+	1	647	c.170C>T	c.(169-171)gCc>gTc	p.A57V	EFHD1_ENST00000409613.1_Intron	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	57					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)		GAGCTGAGCGCCCAGCTGAGC	0.771																																						ENST00000264059.3																			0				NS(1)|breast(1)|large_intestine(2)|lung(3)	7						c.(169-171)gCc>gTc		EF-hand domain family, member D1							3	3	3					2																	233498584		1686	3689	5375	SO:0001583	missense	80303						calcium ion binding|protein binding	g.chr2:233498584C>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.170C>T	2.37:g.233498584C>T	ENSP00000264059:p.Ala57Val		Somatic				EFHD1_ENST00000409613.1_Intron	p.A57V	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)	1	647	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)	57					B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Missense_Mutation	SNP	ENST00000264059.3	37	c.170C>T	CCDS2497.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557058	0.45590	.	.	ENSG00000115468	ENST00000264059	T	0.66638	-0.22	3.46	1.44	0.22558	.	0.357839	0.27715	N	0.018146	T	0.49474	0.1559	L	0.34521	1.04	0.80722	D	1	B	0.20550	0.046	B	0.19391	0.025	T	0.40739	-0.9547	10	0.46703	T	0.11	-0.9265	5.9377	0.19175	0.1875:0.7045:0.0:0.108	.	57	Q9BUP0	EFHD1_HUMAN	V	57	ENSP00000264059:A57V	ENSP00000264059:A57V	A	+	2	0	EFHD1	233206828	0.999000	0.42202	0.019000	0.16419	0.879000	0.50718	2.157000	0.42320	0.642000	0.30620	0.491000	0.48974	GCC		0.771	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		5	9	0	0	0	1	0	5	9					T	233498584	C	T	233498584	3	4	48	1	0	0	0	0	1	0	0	0	4950	739	26	3	172	3	EFHD1	2	233498584	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	837653	233498584	9700789	841	5309										
UGT1A10	54575	broad.mit.edu	37	chr2	234545624	234545624	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttctggatccttttgatacCtgtggcttaattgttgctaa	8	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:234545624C>A	ENST00000344644.5	+	1	525	c.456C>A	c.(454-456)acC>acA	p.T152T	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.T152T	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	152					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	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)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	CTTTTGATACCTGTGGCTTAA	0.408																																						ENST00000344644.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(454-456)acC>acA									143	147	145					2																	234545624		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr2:234545624C>A	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"UDP glucuronosyltransferases"	12531	other	complex locus constituent		606435	"UDP glycosyltransferase 1 family, polypeptide A10"			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.456C>A	2.37:g.234545624C>A			Somatic				UGT1A10_ENST00000373445.1_Silent_p.T152T|UGT1A8_ENST00000373450.4_Intron	p.T152T	NM_019075.2	NP_061948.1	WXS	Illumina GAIIx	Phase_I				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	525	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						O00474|Q6NT91|Q7Z6H8	Silent	SNP	ENST00000344644.5	37	c.456C>A	CCDS33403.1																																																																																				0.408	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		39	91	1	0	7.61001e-30	1	1.08524e-29	39	91					A	234545624	C	A	234545624	2	1	48	1	0	0	0	0	0	0	0	1	16960	668	24	5		5	UGT1A10	2	234545624	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1047040	234545624	8653749	842	5310										
UGT1A9	54600	broad.mit.edu	37	chr2	234580906	234580906	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acgaagtatatattctctatTaatgggttcatacaatgaca	6	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:234580906T>G	ENST00000354728.4	+	1	408	c.326T>G	c.(325-327)tTa>tGa	p.L109*	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Nonsense_Mutation_p.L109*			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	109					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TATTCTCTATTAATGGGTTCA	0.338																																						ENST00000354728.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37						c.(325-327)tTa>tGa									83	85	85					2																	234580906		2203	4300	6503	SO:0001587	stop_gained	0							g.chr2:234580906T>G	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.326T>G	2.37:g.234580906T>G	ENSP00000346768:p.Leu109*		Somatic				UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron	p.L109*	NM_021027.2	NP_066307.1	WXS	Illumina GAIIx	Phase_I				Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	408	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)						B8K285|P36509|Q9HAX0	Nonsense_Mutation	SNP	ENST00000354728.4	37	c.326T>G	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.698725	0.68501	.	.	ENSG00000241119	ENST00000354728	.	.	.	3.41	0.655	0.17839	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.1358	0.01755	0.1494:0.1886:0.1537:0.5083	.	.	.	.	X	109	.	ENSP00000346768:L109X	L	+	2	0	UGT1A9	234245645	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.073000	0.11468	0.022000	0.15160	0.362000	0.22060	TTA		0.338	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		11	74	0	0	0	1	0	11	74					G	234580906	T	G	234580906	4	3	48	1	0	0	0	0	0	1	0	0	16967	1764	61	4	328	4	UGT1A9	2	234580906	Nonsense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	35282	234580906	8618467	843	5311										
UGT1A5	54579	broad.mit.edu	37	chr2	234621645	234621645	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcttctgctgagatggccaCaggactccaggttcccctgc	12	14	1	1	rs150697955	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:234621645C>G	ENST00000373414.3	+	1	8	c.8C>G	c.(7-9)aCa>aGa	p.T3R	UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.T3R|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	3						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		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;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GAGATGGCCACAGGACTCCAG	0.587													C|||	21	0.00419329	8e-04	0	5008	,	,		17609	0		0	False		,,,				2504	0.0204					ENST00000373414.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22						c.(7-9)aCa>aGa				C	,,,,ARG/THR,,	2,4404	4.2+/-10.8	0,2,2201	51	45	47		,,,,8,,	-4.5	0	2	dbSNP_134	47	0,8600		0,0,4300	no	intron,intron,intron,intron,missense,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9	NM_001072.3,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_021027.2,NM_205862.1	,,,,71,,	0,2,6501	GG,GC,CC		0.0,0.0454,0.0154	,,,,,,	,,,,3/535,,	234621645	2,13004	2203	4300	6503	SO:0001583	missense	0							g.chr2:234621645C>G	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"UDP glucuronosyltransferases"	12537	other	complex locus constituent		606430	"UDP glycosyltransferase 1 family, polypeptide A5"			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.8C>G	2.37:g.234621645C>G	ENSP00000362513:p.Thr3Arg		Somatic				UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron	p.T3R	NM_019078.1	NP_061951.1	WXS	Illumina GAIIx	Phase_I				Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	1	8	+		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)						B8K294	Missense_Mutation	SNP	ENST00000373414.3	37	c.8C>G	CCDS33404.1	.	.	.	.	.	.	.	.	.	.	C	7.621	0.676843	0.14841	4.54E-4	0.0	ENSG00000240224	ENST00000373414	T	0.58940	0.3	4.83	-4.48	0.03515	.	0.818368	0.11359	N	0.572081	T	0.33411	0.0862	N	0.12746	0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.25745	-1.0123	10	0.15952	T	0.53	.	13.6843	0.62506	0.0:0.3191:0.0:0.6809	.	3;3	Q5DSZ9;P35504	.;UD15_HUMAN	R	3	ENSP00000362513:T3R	ENSP00000362513:T3R	T	+	2	0	UGT1A5	234286384	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-3.733000	0.00380	-0.790000	0.04492	-0.273000	0.10243	ACA		0.587	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		29	56	0	0	0	1	0	29	56					G	234621645	C	G	234621645	3	3	48	1	0	0	0	0	1	0	0	0	16963	478	17	5	10	5	UGT1A5	2	234621645	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	40739	234621645	8577728	844	5312										
MSL3L2	151507	broad.mit.edu	37	chr2	234774944	234774944	+	RNA	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtaaaggacatttttccaaGaatttctggaagtttgacaa	8	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:234774944G>T	ENST00000438684.1	-	0	1170					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											ATTTTTCCAAGAATTTCTGGA	0.438																																						ENST00000438684.1																			0																				121	99	105					2																	234774944		692	1591	2283			0							g.chr2:234774944G>T	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"male-specific lethal 3-like 2 (Drosophila)"	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234774944G>T			Somatic						NR_024322.1		WXS	Illumina GAIIx	Phase_I					0	1170	-									RNA	SNP	ENST00000438684.1	37																																																																																						0.438	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		23	38	1	0	3.62473e-10	1	4.42315e-10	23	38					T	234774944	G	T	234774944	1	4	48	0	1	0	0	0	0	0	0	0	9889	942	33	2		2	MSL3L2	2	234774944	RNA	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	153299	234774944	8424429	845	5313										
TRPM8	79054	broad.mit.edu	37	chr2	234878372	234878372	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcaatggtatggagagattTcccgagacaccaagaactgg	12	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:234878372T>C	ENST00000324695.4	+	16	2099	c.2059T>C	c.(2059-2061)Tcc>Ccc	p.S687P	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	687					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGGAGAGATTTCCCGAGACAC	0.398																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(2059-2061)Tcc>Ccc		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						229	211	217					2																	234878372		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234878372T>C	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2059T>C	2.37:g.234878372T>C	ENSP00000323926:p.Ser687Pro		Somatic				TRPM8_ENST00000433712.2_Intron	p.S687P	NM_024080.4	NP_076985.4	WXS	Illumina GAIIx	Phase_I	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	16	2099	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	687					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.2059T>C	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618549	0.66787	.	.	ENSG00000144481	ENST00000324695	T	0.63913	-0.07	5.42	4.26	0.50523	.	0.211314	0.34025	N	0.004334	T	0.71434	0.3339	L	0.52759	1.655	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.71013	-0.4715	10	0.54805	T	0.06	-31.6766	10.2401	0.43308	0.0:0.0783:0.0:0.9217	.	687	Q7Z2W7	TRPM8_HUMAN	P	687	ENSP00000323926:S687P	ENSP00000323926:S687P	S	+	1	0	TRPM8	234543111	1.000000	0.71417	0.994000	0.49952	0.872000	0.50106	5.926000	0.70070	0.914000	0.36822	-0.262000	0.10625	TCC		0.398	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		28	65	0	0	0	1	0	28	65					C	234878372	T	C	234878372	3	2	48	1	0	0	0	0	1	0	0	0	16607	1783	62	4	2117	4	TRPM8	2	234878372	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	103428	234878372	8321001	846	5314										
SH3BP4	23677	broad.mit.edu	37	chr2	235951498	235951498	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagcgggtcaggctccggggCcagctgtggaccaaggagtg	19	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:235951498C>T	ENST00000409212.1	+	4	2592	c.2085C>T	c.(2083-2085)ggC>ggT	p.G695G	SH3BP4_ENST00000344528.4_Silent_p.G695G|SH3BP4_ENST00000392011.2_Silent_p.G695G			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	695					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGCTCCGGGGCCAGCTGTGGA	0.652																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(2083-2085)ggC>ggT		SH3-domain binding protein 4							46	45	45					2																	235951498		2203	4300	6503	SO:0001819	synonymous_variant	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235951498C>T	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2085C>T	2.37:g.235951498C>T			Somatic				SH3BP4_ENST00000392011.2_Silent_p.G695G|SH3BP4_ENST00000344528.4_Silent_p.G695G	p.G695G			WXS	Illumina GAIIx	Phase_I	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	2592	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	695					O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	c.2085C>T	CCDS2513.1																																																																																				0.652	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			8	85	0	0	0	1	0	8	85					T	235951498	C	T	235951498	2	4	48	1	0	0	0	0	0	0	0	1	14261	726	26	3		3	SH3BP4	2	235951498	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1073126	235951498	7247875	847	5315										
SH3BP4	23677	broad.mit.edu	37	chr2	235962357	235962357	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgaaaaaccccatcaccaAgcgctggaagcacctcactg	8	14	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:235962357A>C	ENST00000409212.1	+	6	3296	c.2789A>C	c.(2788-2790)aAg>aCg	p.K930T	SH3BP4_ENST00000344528.4_Missense_Mutation_p.K930T|SH3BP4_ENST00000392011.2_Missense_Mutation_p.K930T			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	930					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCCATCACCAAGCGCTGGAAG	0.577																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(2788-2790)aAg>aCg		SH3-domain binding protein 4							171	162	165					2																	235962357		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235962357A>C	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.2789A>C	2.37:g.235962357A>C	ENSP00000386862:p.Lys930Thr		Somatic				SH3BP4_ENST00000392011.2_Missense_Mutation_p.K930T|SH3BP4_ENST00000344528.4_Missense_Mutation_p.K930T	p.K930T			WXS	Illumina GAIIx	Phase_I	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	6	3296	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	930					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.2789A>C	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.415644	0.42817	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528;ENST00000538289	T;T;T	0.44482	0.92;0.92;0.92	5.6	3.21	0.36854	.	0.095980	0.64402	D	0.000001	T	0.39036	0.1063	M	0.78049	2.395	0.50813	D	0.99989	P;P	0.41366	0.747;0.747	B;B	0.36418	0.224;0.224	T	0.28902	-1.0029	10	0.87932	D	0	-29.0136	6.1781	0.20455	0.777:0.0:0.0797:0.1433	.	930;930	A8K594;Q9P0V3	.;SH3B4_HUMAN	T	930;520;930;930;168	ENSP00000375867:K930T;ENSP00000386862:K930T;ENSP00000340237:K930T	ENSP00000340237:K930T	K	+	2	0	SH3BP4	235627096	1.000000	0.71417	0.999000	0.59377	0.561000	0.35649	5.973000	0.70456	0.410000	0.25675	-0.336000	0.08194	AAG		0.577	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			39	179	0	0	0	1	0	39	179					C	235962357	A	C	235962357	3	2	48	1	0	0	0	0	1	0	0	0	14261	72	3	4	2803	4	SH3BP4	2	235962357	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	10859	235962357	7237016	848	5316										
AGAP1	116987	broad.mit.edu	37	chr2	236792005	236792005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtagggcatgctgttgaagcGaagtggcaaatcgttgaata	14	5	0	2	rs373781245		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:236792005G>A	ENST00000304032.8	+	10	1647	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	AGAP1_ENST00000336665.5_Missense_Mutation_p.R356Q|AGAP1_ENST00000428334.2_Missense_Mutation_p.R195Q|AGAP1_ENST00000409538.1_Missense_Mutation_p.R621Q	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	356	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)	p.R356Q(1)		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						CTGTTGAAGCGAAGTGGCAAA	0.388																																						ENST00000409538.1																			1	Substitution - Missense(1)	p.R356Q(1)	large_intestine(1)	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.(1861-1863)cGa>cAa		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	113	103	106		1067,1067	5.3	1	2		106	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AGAP1	NM_001037131.2,NM_014914.4	43,43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	356/858,356/805	236792005	2,13004	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.chr2:236792005G>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.1067G>A	2.37:g.236792005G>A	ENSP00000307634:p.Arg356Gln		Somatic				AGAP1_ENST00000428334.2_Missense_Mutation_p.R195Q|AGAP1_ENST00000304032.7_Missense_Mutation_p.R356Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.R356Q	p.R621Q			WXS	Illumina GAIIx	Phase_I	Q9UPQ3	AGAP1_HUMAN			10	2358	+			356			Arf-GAP.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.1862G>A	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	35	5.471084	0.96274	2.27E-4	1.16E-4	ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.3	5.3	0.74995	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86723	0.6001	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.927;0.98	D	0.85571	0.1234	10	0.40728	T	0.16	.	18.1477	0.89663	0.0:0.0:1.0:0.0	.	356;356	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	Q	356;356;621;195	ENSP00000307634:R356Q;ENSP00000338378:R356Q;ENSP00000386897:R621Q;ENSP00000411824:R195Q	ENSP00000307634:R356Q	R	+	2	0	AGAP1	236456744	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.073000	0.93992	2.652000	0.90054	0.655000	0.94253	CGA		0.388	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		17	31	0	0	0	1	0	17	31					A	236792005	G	A	236792005	3	1	48	1	0	0	0	0	1	0	0	0	366	1058	37	1	1105	1	AGAP1	2	236792005	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	829648	236792005	6407368	849	5317										
COL6A3	1293	broad.mit.edu	37	chr2	238268776	238268776	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccctggaaaccttgagtgccGttcacaccaggcggaccacg	11	15	1	1	rs34390834		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:238268776G>A	ENST00000295550.4	-	17	6689	c.6237C>T	c.(6235-6237)aaC>aaT	p.N2079N	COL6A3_ENST00000353578.4_Silent_p.N1873N|COL6A3_ENST00000409809.1_Silent_p.N1873N|COL6A3_ENST00000346358.4_Silent_p.N1879N|COL6A3_ENST00000347401.3_Silent_p.N1878N|COL6A3_ENST00000472056.1_Silent_p.N1472N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2079	Collagen-like 1.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTTGAGTGCCGTTCACACCAG	0.612													G|||	1	0.000199681	0	0.0014	5008	,	,		19501	0		0	False		,,,				2504	0					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.(6235-6237)aaC>aaT		collagen, type VI, alpha 3		G	,,	1,4405	2.1+/-5.4	0,1,2202	182	137	152		6237,4416,5619	-6.9	0.8	2	dbSNP_126	152	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	2079/3178,1472/2571,1873/2972	238268776	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238268776G>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.6237C>T	2.37:g.238268776G>A			Somatic				COL6A3_ENST00000353578.4_Silent_p.N1873N|COL6A3_ENST00000347401.3_Silent_p.N1878N|COL6A3_ENST00000472056.1_Silent_p.N1472N|COL6A3_ENST00000346358.4_Silent_p.N1879N|COL6A3_ENST00000409809.1_Silent_p.N1873N	p.N2079N	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)	17	6689	-		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)	2079			Collagen-like 1.|Triple-helical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.6237C>T	CCDS33412.1																																																																																				0.612	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		20	31	0	0	0	1	0	20	31					A	238268776	G	A	238268776	2	1	48	1	0	0	0	0	0	0	0	1	3703	1136	40	1		1	COL6A3	2	238268776	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1476771	238268776	4930597	850	5318										
COL6A3	1293	broad.mit.edu	37	chr2	238277715	238277715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggggccgatgttgagtcttCgaacaatcctgctaacaaaa	10	9	1	1	rs138676768		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:238277715C>T	ENST00000295550.4	-	10	4843	c.4391G>A	c.(4390-4392)cGa>cAa	p.R1464Q	COL6A3_ENST00000353578.4_Missense_Mutation_p.R1258Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1258Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1264Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1263Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.R857Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1464	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			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)		GTTGAGTCTTCGAACAATCCT	0.478																																						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.(4390-4392)cGa>cAa		collagen, type VI, alpha 3		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	66	62	64		3773,2570,4391	0.4	0	2	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	COL6A3	NM_057167.3,NM_057166.4,NM_004369.3	43,43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	1258/2972,857/2571,1464/3178	238277715	2,13004	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.chr2:238277715C>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.4391G>A	2.37:g.238277715C>T	ENSP00000295550:p.Arg1464Gln		Somatic				COL6A3_ENST00000353578.4_Missense_Mutation_p.R1258Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1263Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.R857Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1264Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1258Q	p.R1464Q	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)	10	4843	-		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)	1464			Nonhelical region.|VWFA 8.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.4391G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	4.608	0.112905	0.08831	0.0	2.33E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.29	0.387	0.16259	von Willebrand factor, type A (3);	0.438446	0.19072	N	0.123464	T	0.50222	0.1603	N	0.11364	0.135	0.09310	N	1	P;P;B	0.42248	0.774;0.576;0.002	B;B;B	0.31495	0.131;0.045;0.002	T	0.47195	-0.9136	10	0.22706	T	0.39	.	9.9841	0.41830	0.0:0.4067:0.0:0.5933	.	857;1258;1464	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	Q	1464;1263;1258;857;1258;1264	ENSP00000295550:R1464Q;ENSP00000315609:R1263Q;ENSP00000315873:R1258Q;ENSP00000418285:R857Q;ENSP00000386844:R1258Q;ENSP00000295546:R1264Q	ENSP00000295550:R1464Q	R	-	2	0	COL6A3	237942454	0.180000	0.23148	0.000000	0.03702	0.002000	0.02628	1.329000	0.33770	-0.221000	0.09973	-0.157000	0.13467	CGA		0.478	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		7	30	0	0	0	1	0	7	30					T	238277715	C	T	238277715	3	4	48	1	0	0	0	0	1	0	0	0	3703	884	31	1	5282	1	COL6A3	2	238277715	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	8939	238277715	4921658	851	5319										
COL6A3	1293	broad.mit.edu	37	chr2	238285704	238285704	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgccagcagacttcacaaaAatgtacctctgtgcatagtc	7	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:238285704A>C	ENST00000295550.4	-	7	3233	c.2781T>G	c.(2779-2781)atT>atG	p.I927M	COL6A3_ENST00000353578.4_Missense_Mutation_p.I721M|COL6A3_ENST00000392004.3_Missense_Mutation_p.I721M|COL6A3_ENST00000409809.1_Missense_Mutation_p.I721M|COL6A3_ENST00000346358.4_Missense_Mutation_p.I727M|COL6A3_ENST00000392003.2_Missense_Mutation_p.I520M|COL6A3_ENST00000347401.3_Missense_Mutation_p.I726M|COL6A3_ENST00000472056.1_Missense_Mutation_p.I320M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	927	Nonhelical region.|VWFA 5. {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)		ACTTCACAAAAATGTACCTCT	0.537																																						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.(2779-2781)atT>atG		collagen, type VI, alpha 3							85	74	77					2																	238285704		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.chr2:238285704A>C	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.2781T>G	2.37:g.238285704A>C	ENSP00000295550:p.Ile927Met		Somatic				COL6A3_ENST00000392003.2_Missense_Mutation_p.I520M|COL6A3_ENST00000353578.4_Missense_Mutation_p.I721M|COL6A3_ENST00000347401.3_Missense_Mutation_p.I726M|COL6A3_ENST00000472056.1_Missense_Mutation_p.I320M|COL6A3_ENST00000392004.3_Missense_Mutation_p.I721M|COL6A3_ENST00000346358.4_Missense_Mutation_p.I727M|COL6A3_ENST00000409809.1_Missense_Mutation_p.I721M	p.I927M	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)	7	3233	-		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)	927			Nonhelical region.|VWFA 5.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.2781T>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.017268	0.35606	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	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	5.55	-6.26	0.02033	von Willebrand factor, type A (3);	0.463539	0.18400	N	0.142388	T	0.80160	0.4572	L	0.39245	1.2	0.23101	N	0.998298	P;D;D;P;D;P	0.65815	0.81;0.992;0.957;0.915;0.995;0.884	P;D;P;P;D;P	0.72982	0.546;0.979;0.835;0.845;0.952;0.647	T	0.70835	-0.4764	10	0.39692	T	0.17	.	4.1187	0.10095	0.4675:0.2726:0.1802:0.0797	.	727;320;520;721;721;927	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	M	927;726;721;320;721;727;721;520	ENSP00000295550:I927M;ENSP00000315609:I726M;ENSP00000315873:I721M;ENSP00000418285:I320M;ENSP00000386844:I721M;ENSP00000295546:I727M;ENSP00000375861:I721M;ENSP00000375860:I520M	ENSP00000295550:I927M	I	-	3	3	COL6A3	237950443	0.458000	0.25760	0.018000	0.16275	0.286000	0.27126	-0.264000	0.08658	-1.367000	0.02152	-1.100000	0.02121	ATT		0.537	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		8	80	0	0	0	1	0	8	80					C	238285704	A	C	238285704	3	2	48	1	0	0	0	0	1	0	0	0	3703	10	1	4	6951	4	COL6A3	2	238285704	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	7989	238285704	4913669	852	5320										
LRRFIP1	9208	broad.mit.edu	37	chr2	238662113	238662113	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctaggcggcagtacgaagaGaaaaacaaagtaagcattag	11	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:238662113G>T	ENST00000392000.4	+	8	762	c.645G>T	c.(643-645)gaG>gaT	p.E215D	LRRFIP1_ENST00000308482.9_Missense_Mutation_p.E343D|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.E159D|LRRFIP1_ENST00000244815.5_Missense_Mutation_p.E191D	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	215					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)		AGTACGAAGAGAAAAACAAAG	0.438																																						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.(571-573)gaG>gaT		leucine rich repeat (in FLII) interacting protein 1							95	97	97					2																	238662113		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.chr2:238662113G>T	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.645G>T	2.37:g.238662113G>T	ENSP00000375857:p.Glu215Asp		Somatic				LRRFIP1_ENST00000308482.9_Missense_Mutation_p.E343D|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.E215D|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.E159D	p.E191D	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)	7	813	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	215					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	c.573G>T	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548238	0.45383	.	.	ENSG00000124831	ENST00000308482;ENST00000289175;ENST00000391999;ENST00000244815;ENST00000392000	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.64	3.84	0.44239	.	0.330011	0.34223	N	0.004146	T	0.47021	0.1423	L	0.56280	1.765	0.52099	D	0.999945	B;B;B;B;B	0.30511	0.005;0.174;0.151;0.282;0.005	B;B;B;B;B	0.36766	0.019;0.22;0.232;0.22;0.052	T	0.36962	-0.9726	10	0.35671	T	0.21	-35.5843	6.4732	0.22020	0.2124:0.135:0.6526:0.0	.	159;159;215;191;343	B4DPC0;Q32MZ4-3;Q32MZ4;Q32MZ4-2;E9PGZ2	.;.;LRRF1_HUMAN;.;.	D	343;159;333;191;215	ENSP00000310109:E343D;ENSP00000289175:E159D;ENSP00000244815:E191D;ENSP00000375857:E215D	ENSP00000244815:E191D	E	+	3	2	LRRFIP1	238326852	0.768000	0.28519	0.989000	0.46669	0.933000	0.57130	-0.162000	0.10012	0.848000	0.35191	0.650000	0.86243	GAG		0.438	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		17	60	1	0	3.32936e-07	1	3.80431e-07	17	60					T	238662113	G	T	238662113	3	4	48	1	0	0	0	0	1	0	0	0	9036	933	33	2	1157	2	LRRFIP1	2	238662113	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	376409	238662113	4537260	853	5321										
RBM44	375316	broad.mit.edu	37	chr2	238725726	238725726	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttcctgatgatgactggaAttcttcgacactagagcaaa	8	8	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:238725726A>C	ENST00000409864.1	+	3	421	c.167A>C	c.(166-168)aAt>aCt	p.N56T	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Missense_Mutation_p.N56T			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	55						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)		GATGACTGGAATTCTTCGACA	0.308																																						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.(166-168)aAt>aCt		RNA binding motif protein 44							71	70	71					2																	238725726		1827	4071	5898	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238725726A>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.167A>C	2.37:g.238725726A>C	ENSP00000386727:p.Asn56Thr		Somatic				RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.N56T	p.N56T	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	299	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	55					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.167A>C	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	A	7.176	0.588637	0.13812	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.28895	1.59;1.59	5.62	4.48	0.54585	.	0.322809	0.26563	N	0.023666	T	0.18341	0.0440	N	0.14661	0.345	0.09310	N	1	B	0.18166	0.026	B	0.20767	0.031	T	0.17531	-1.0366	10	0.66056	D	0.02	-12.9176	8.1698	0.31247	0.9098:0.0:0.0902:0.0	.	55	Q6ZP01	RBM44_HUMAN	T	56	ENSP00000321179:N56T;ENSP00000386727:N56T	ENSP00000321179:N56T	N	+	2	0	RBM44	238390465	0.001000	0.12720	0.329000	0.25429	0.199000	0.23934	0.880000	0.28159	0.977000	0.38444	0.460000	0.39030	AAT		0.308	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		15	40	0	0	0	1	0	15	40					C	238725726	A	C	238725726	3	2	48	1	0	0	0	0	1	0	0	0	13153	101	4	4	173	4	RBM44	2	238725726	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	63613	238725726	4473647	854	5322										
KLHL30	377007	broad.mit.edu	37	chr2	239049878	239049878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgggccttcctgcgagagaaCtttgaggctgtggcacgtga	15	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:239049878C>A	ENST00000409223.1	+	2	590	c.483C>A	c.(481-483)aaC>aaA	p.N161K	KLHL30_ENST00000305959.4_Missense_Mutation_p.N143K			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	161	BACK.									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)		TGCGAGAGAACTTTGAGGCTG	0.642																																						ENST00000409223.1																			0				lung(4)	4						c.(481-483)aaC>aaA		kelch-like family member 30							21	27	25					2																	239049878		2140	4247	6387	SO:0001583	missense	377007							g.chr2:239049878C>A		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.483C>A	2.37:g.239049878C>A	ENSP00000386389:p.Asn161Lys		Somatic				KLHL30_ENST00000305959.4_Missense_Mutation_p.N143K	p.N161K			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	590	+		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)	161			BACK.		Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.483C>A	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793034	0.70452	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.70986	-0.53;-0.53	5.82	4.94	0.65067	BTB/Kelch-associated (2);	0.048581	0.85682	D	0.000000	T	0.80681	0.4669	M	0.67397	2.05	0.47407	D	0.999414	D	0.89917	1.0	D	0.72982	0.979	T	0.80906	-0.1173	10	0.49607	T	0.09	.	11.0083	0.47649	0.0:0.8497:0.0:0.1503	.	161	Q0D2K2	KLH30_HUMAN	K	161;143	ENSP00000386389:N161K;ENSP00000302386:N143K	ENSP00000302386:N143K	N	+	3	2	KLHL30	238714617	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.596000	0.46205	1.481000	0.48307	-0.126000	0.14955	AAC		0.642	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		4	27	1	0	0.00024832	1	0.000265255	4	27					A	239049878	C	A	239049878	3	1	48	1	0	0	0	0	1	0	0	0	8393	564	20	5	485	5	KLHL30	2	239049878	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	324152	239049878	4149495	855	5323										
ILKAP	80895	broad.mit.edu	37	chr2	239093869	239093869	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgcaaattctgtgcagcaAattttgaggctcgaattcct	9	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:239093869A>C	ENST00000254654.3	-	6	660	c.485T>G	c.(484-486)tTt>tGt	p.F162C		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	162	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CTGTGCAGCAAATTTTGAGGC	0.353																																						ENST00000254654.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(484-486)tTt>tGt		integrin-linked kinase-associated serine/threonine phosphatase							110	104	106					2																	239093869		2203	4300	6503	SO:0001583	missense	80895					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding	g.chr2:239093869A>C	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.485T>G	2.37:g.239093869A>C	ENSP00000254654:p.Phe162Cys		Somatic					p.F162C	NM_030768.2	NP_110395.1	WXS	Illumina GAIIx	Phase_I	Q9H0C8	ILKAP_HUMAN		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)	6	660	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	162			PP2C-like.		B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	c.485T>G	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.815119	0.70912	.	.	ENSG00000132323	ENST00000254654;ENST00000457149	T;T	0.19532	2.14;2.14	5.86	5.86	0.93980	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.51534	0.1680	M	0.90252	3.1	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.60337	-0.7283	10	0.72032	D	0.01	-4.2693	10.9192	0.47154	0.8595:0.0:0.0:0.1405	.	162	Q9H0C8	ILKAP_HUMAN	C	162;160	ENSP00000254654:F162C;ENSP00000395301:F160C	ENSP00000254654:F162C	F	-	2	0	ILKAP	238758608	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.341000	0.52151	2.241000	0.73720	0.528000	0.53228	TTT		0.353	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		12	16	0	0	0	1	0	12	16					C	239093869	A	C	239093869	3	2	48	1	0	0	0	0	1	0	0	0	7723	14	1	4	721	4	ILKAP	2	239093869	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	43991	239093869	4105504	856	5324										
PER2	8864	broad.mit.edu	37	chr2	239174207	239174207	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatgggtggttgtaaaaattCtcttttcaggaggaattcta	10	4	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:239174207C>A	ENST00000254657.3	-	9	1271	c.992G>T	c.(991-993)aGa>aTa	p.R331I	PER2_ENST00000440245.1_Missense_Mutation_p.R331I|PER2_ENST00000254658.3_Missense_Mutation_p.R331I|PER2_ENST00000355768.2_Missense_Mutation_p.R331I	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	331	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)		TGTAAAAATTCTCTTTTCAGG	0.358																																						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.(991-993)aGa>aTa		period circadian clock 2							101	101	101					2																	239174207		2203	4300	6503	SO:0001583	missense	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239174207C>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.992G>T	2.37:g.239174207C>A	ENSP00000254657:p.Arg331Ile		Somatic				PER2_ENST00000254658.3_Missense_Mutation_p.R331I|PER2_ENST00000355768.2_Missense_Mutation_p.R331I|PER2_ENST00000440245.1_Missense_Mutation_p.R331I	p.R331I	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)	9	1271	-		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)	331			PAS 2.		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	c.992G>T	CCDS2528.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663712	0.88251	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768	T;T;T;T	0.59906	2.48;0.23;1.71;0.23	4.81	4.81	0.61882	PAS (1);	0.000000	0.85682	D	0.000000	T	0.76205	0.3955	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.76494	0.993;0.998;0.999;0.999	P;P;D;D	0.91635	0.857;0.896;0.999;0.979	T	0.79262	-0.1876	10	0.62326	D	0.03	-25.3687	15.7784	0.78242	0.0:1.0:0.0:0.0	.	331;331;331;331	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	I	331	ENSP00000254657:R331I;ENSP00000254658:R331I;ENSP00000397516:R331I;ENSP00000348013:R331I	ENSP00000254657:R331I	R	-	2	0	PER2	238838946	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.207000	0.77899	2.403000	0.81681	0.557000	0.71058	AGA		0.358	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		19	41	1	0	2.27731e-05	1	2.49859e-05	19	41					A	239174207	C	A	239174207	3	1	48	1	0	0	0	0	1	0	0	0	11739	913	32	2	2835	2	PER2	2	239174207	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	80338	239174207	4025166	857	5325										
MYEOV2	150678	broad.mit.edu	37	chr2	241066116	241066116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgctgtcttcgctgacctctCgcctgcttcttgtggttctg	10	13	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:241066116C>T	ENST00000307266.3	-	5	622	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		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)		GCTGACCTCTCGCCTGCTTCT	0.478																																						ENST00000307266.3																			0				breast(1)|lung(5)|pancreas(1)	7						c.(622-624)cGa>cAa		myeloma overexpressed 2							241	201	214					2																	241066116		2203	4300	6503	SO:0001583	missense	150678							g.chr2:241066116C>T	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.623G>A	2.37:g.241066116C>T	ENSP00000304147:p.Arg208Gln		Somatic					p.R208Q	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	622	-		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.623G>A	CCDS2532.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579392	0.28180	.	.	ENSG00000172428	ENST00000307266	.	.	.	1.2	-0.902	0.10537	.	.	.	.	.	T	0.18759	0.0450	.	.	.	0.09310	N	1	P	0.36065	0.535	B	0.18263	0.021	T	0.10706	-1.0618	7	0.87932	D	0	.	4.0152	0.09641	0.0:0.5213:0.0:0.4787	.	208	Q8WXC6-1	.	Q	208	.	ENSP00000304147:R208Q	R	-	2	0	MYEOV2	240714789	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.487000	0.02310	-0.351000	0.08249	-0.324000	0.08512	CGA		0.478	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257182.2	NM_138336		27	87	0	0	0	1	0	27	87					T	241066116	C	T	241066116	3	4	48	1	0	0	0	0	1	0	0	0	10035	884	31	1	139	1	MYEOV2	2	241066116	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1891909	241066116	2133257	858	5326										
KIF1A	547	broad.mit.edu	37	chr2	241660374	241660374	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccttcaaccagagaggggcAagtggaggagggggtgagag	19	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:241660374A>G	ENST00000320389.7	-	43	4680	c.4522T>C	c.(4522-4524)Tgc>Cgc	p.C1508R	KIF1A_ENST00000498729.2_Missense_Mutation_p.C1609R	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1508					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)		AGAGAGGGGCAAGTGGAGGAG	0.647																																						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.(4825-4827)Tgc>Cgc		kinesin family member 1A							19	23	22					2																	241660374		2027	4180	6207	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241660374A>G	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.4522T>C	2.37:g.241660374A>G	ENSP00000322791:p.Cys1508Arg		Somatic				KIF1A_ENST00000320389.7_Missense_Mutation_p.C1508R	p.C1609R	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)	45	5071	-		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)	1508			PH.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.4825T>C	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.771532	0.69992	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.73047	-0.65;-0.71	4.02	4.02	0.46733	.	0.000000	0.85682	U	0.000000	T	0.78104	0.4231	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.986;0.998	T	0.78059	-0.2352	10	0.46703	T	0.11	.	12.6426	0.56718	1.0:0.0:0.0:0.0	.	1609;1508	F5H045;Q12756	.;KIF1A_HUMAN	R	1508;1609;1617	ENSP00000322791:C1508R;ENSP00000438388:C1609R	ENSP00000322791:C1508R	C	-	1	0	KIF1A	241309047	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.879000	0.75572	1.470000	0.48102	0.533000	0.62120	TGC		0.647	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		9	11	0	0	0	1	0	9	11					G	241660374	A	G	241660374	3	3	48	1	0	0	0	0	1	0	0	0	8292	130	5	4	570	4	KIF1A	2	241660374	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	594258	241660374	1538999	859	5327										
KIF1A	547	broad.mit.edu	37	chr2	241661294	241661294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaatgtgtgcgtgagcaggCgcaagcactgtggacagagc	16	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:241661294C>T	ENST00000320389.7	-	42	4528	c.4370G>A	c.(4369-4371)cGc>cAc	p.R1457H	KIF1A_ENST00000498729.2_Missense_Mutation_p.R1558H	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1457					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)		CGTGAGCAGGCGCAAGCACTG	0.647																																						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.(4672-4674)cGc>cAc		kinesin family member 1A							70	75	74					2																	241661294		2146	4240	6386	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241661294C>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.4370G>A	2.37:g.241661294C>T	ENSP00000322791:p.Arg1457His		Somatic				KIF1A_ENST00000320389.7_Missense_Mutation_p.R1457H	p.R1558H	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)	44	4919	-		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)	1457					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.4673G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907737	0.92107	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.74947	-0.81;-0.89	4.33	4.33	0.51752	.	0.000000	0.85682	U	0.000000	T	0.82051	0.4953	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;P	0.67900	0.954;0.878	D	0.84423	0.0572	10	0.66056	D	0.02	.	16.4483	0.83959	0.0:1.0:0.0:0.0	.	1558;1457	F5H045;Q12756	.;KIF1A_HUMAN	H	1457;1558;1566	ENSP00000322791:R1457H;ENSP00000438388:R1558H	ENSP00000322791:R1457H	R	-	2	0	KIF1A	241309967	1.000000	0.71417	0.940000	0.37924	0.935000	0.57460	5.674000	0.68117	1.965000	0.57142	0.650000	0.86243	CGC		0.647	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		11	18	0	0	0	1	0	11	18					T	241661294	C	T	241661294	3	4	48	1	0	0	0	0	1	0	0	0	8292	768	27	1	726	1	KIF1A	2	241661294	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	920	241661294	1538079	860	5328										
PASK	23178	broad.mit.edu	37	chr2	242066686	242066686	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgggactggagcttcagaAtcttcgcaggaagcaaatgg	14	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242066686A>C	ENST00000405260.1	-	10	2342	c.1644T>G	c.(1642-1644)gaT>gaG	p.D548E	PASK_ENST00000539818.1_Missense_Mutation_p.D332E|PASK_ENST00000358649.4_Missense_Mutation_p.D548E|PASK_ENST00000234040.4_Missense_Mutation_p.D548E|PASK_ENST00000544142.1_Missense_Mutation_p.D362E|PASK_ENST00000403638.3_Missense_Mutation_p.D548E	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	548					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)		GAGCTTCAGAATCTTCGCAGG	0.572																																						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.(1642-1644)gaT>gaG		PAS domain containing serine/threonine kinase							165	166	166					2																	242066686		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.chr2:242066686A>C	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.1644T>G	2.37:g.242066686A>C	ENSP00000384016:p.Asp548Glu		Somatic				PASK_ENST00000544142.1_Missense_Mutation_p.D362E|PASK_ENST00000539818.1_Missense_Mutation_p.D332E|PASK_ENST00000234040.4_Missense_Mutation_p.D548E|PASK_ENST00000405260.1_Missense_Mutation_p.D548E|PASK_ENST00000358649.4_Missense_Mutation_p.D548E	p.D548E	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	1735	-		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)	548					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.1644T>G	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	A	12.37	1.916919	0.33815	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.51;-0.54;0.34	4.55	-9.09	0.00717	.	1.425070	0.04643	N	0.405738	T	0.50411	0.1614	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.11235	0.001;0.0;0.004;0.0;0.001	B;B;B;B;B	0.17433	0.003;0.002;0.018;0.002;0.003	T	0.42207	-0.9465	10	0.54805	T	0.06	.	4.3588	0.11192	0.1709:0.1161:0.4846:0.2285	.	513;362;548;548;548	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	E	548;362;548;548;332;548	ENSP00000234040:D548E;ENSP00000441374:D362E;ENSP00000384016:D548E;ENSP00000351475:D548E;ENSP00000443083:D332E;ENSP00000384438:D548E	ENSP00000234040:D548E	D	-	3	2	PASK	241715359	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.245000	0.00542	-2.099000	0.00849	-0.379000	0.06801	GAT		0.572	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		93	148	0	0	0	1	0	93	148					C	242066686	A	C	242066686	3	2	48	1	0	0	0	0	1	0	0	0	11481	98	4	4	2363	4	PASK	2	242066686	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	405392	242066686	1132687	861	5329										
PASK	23178	broad.mit.edu	37	chr2	242079418	242079418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagcttctggccaatcaggTcctggctgctgtaccccagg	12	13	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242079418T>C	ENST00000405260.1	-	4	1180	c.482A>G	c.(481-483)gAc>gGc	p.D161G	PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Missense_Mutation_p.D161G|PASK_ENST00000234040.4_Missense_Mutation_p.D161G|PASK_ENST00000544142.1_Intron|PASK_ENST00000403638.3_Missense_Mutation_p.D161G	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	161	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)		GCCAATCAGGTCCTGGCTGCT	0.587																																						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.(481-483)gAc>gGc		PAS domain containing serine/threonine kinase							63	52	56					2																	242079418		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.chr2:242079418T>C	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.482A>G	2.37:g.242079418T>C	ENSP00000384016:p.Asp161Gly		Somatic				PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000234040.4_Missense_Mutation_p.D161G|PASK_ENST00000405260.1_Missense_Mutation_p.D161G|PASK_ENST00000358649.4_Missense_Mutation_p.D161G	p.D161G	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)	4	573	-		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)	161			PAS 1.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.482A>G	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.737356	0.30774	.	.	ENSG00000115687	ENST00000234040;ENST00000405260;ENST00000358649;ENST00000403638	D;D;D;D	0.99688	-6.41;-6.41;-6.41;-6.41	4.61	2.17	0.27698	PAS (3);PAS fold (1);	0.599801	0.15442	N	0.262158	D	0.99045	0.9673	L	0.48362	1.52	0.29995	N	0.816575	P;B;B;P	0.37594	0.601;0.403;0.287;0.601	P;B;B;P	0.49922	0.626;0.341;0.342;0.626	D	0.99964	1.1791	10	0.72032	D	0.01	.	5.4519	0.16570	0.0:0.0932:0.1754:0.7314	.	161;161;161;161	B7Z7R6;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;PASK_HUMAN	G	161	ENSP00000234040:D161G;ENSP00000384016:D161G;ENSP00000351475:D161G;ENSP00000384438:D161G	ENSP00000234040:D161G	D	-	2	0	PASK	241728091	0.499000	0.26083	0.627000	0.29227	0.156000	0.22039	1.786000	0.38694	0.166000	0.19597	-0.415000	0.06103	GAC		0.587	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		14	20	0	0	0	1	0	14	20					C	242079418	T	C	242079418	3	2	48	1	0	0	0	0	1	0	0	0	11481	1667	58	4	3549	4	PASK	2	242079418	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	12732	242079418	1119955	862	5330										
PASK	23178	broad.mit.edu	37	chr2	242079939	242079939	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaagagaagcaaatacctcTgtggtcttggcatccaccgt	9	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242079939T>G	ENST00000405260.1	-	3	1124	c.426A>C	c.(424-426)acA>acC	p.T142T	PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Silent_p.T142T|PASK_ENST00000234040.4_Silent_p.T142T|PASK_ENST00000544142.1_Intron|PASK_ENST00000403638.3_Silent_p.T142T	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	142	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)		CAAATACCTCTGTGGTCTTGG	0.498																																						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.(424-426)acA>acC		PAS domain containing serine/threonine kinase							66	58	61					2																	242079939		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242079939T>G	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.426A>C	2.37:g.242079939T>G			Somatic				PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000234040.4_Silent_p.T142T|PASK_ENST00000405260.1_Silent_p.T142T|PASK_ENST00000358649.4_Silent_p.T142T	p.T142T	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)	3	517	-		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)	142			PAS 1.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.426A>C	CCDS2545.1																																																																																				0.498	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		4	10	0	0	0	1	0	4	10					G	242079939	T	G	242079939	2	3	48	1	0	0	0	0	0	0	0	1	11481	1567	55	4		4	PASK	2	242079939	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	521	242079939	1119434	863	5331										
SEPT2	4735	broad.mit.edu	37	chr2	242274562	242274562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaatcaggtctaggaaaatCgactctcataaacagcctat	7	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242274562C>T	ENST00000391973.2	+	4	680	c.152C>T	c.(151-153)tCg>tTg	p.S51L	SEPT2_ENST00000401990.1_Missense_Mutation_p.S51L|SEPT2_ENST00000402092.2_Missense_Mutation_p.S51L|SEPT2_ENST00000360051.3_Missense_Mutation_p.S51L|SEPT2_ENST00000391971.2_Missense_Mutation_p.S51L|SEPT2_ENST00000407971.1_Missense_Mutation_p.S11L	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	51	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CTAGGAAAATCGACTCTCATA	0.363																																						ENST00000391973.2																			0				central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(151-153)tCg>tTg		septin 2							86	79	81					2																	242274562		2203	4300	6503	SO:0001583	missense	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242274562C>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.152C>T	2.37:g.242274562C>T	ENSP00000375834:p.Ser51Leu		Somatic				SEPT2_ENST00000391971.2_Missense_Mutation_p.S51L|SEPT2_ENST00000401990.1_Missense_Mutation_p.S51L|SEPT2_ENST00000360051.3_Missense_Mutation_p.S51L|SEPT2_ENST00000402092.2_Missense_Mutation_p.S51L|SEPT2_ENST00000407971.1_Missense_Mutation_p.S11L	p.S51L	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)	4	680	+		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)	51					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	37	c.152C>T	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567422	0.96540	.	.	ENSG00000168385	ENST00000391973;ENST00000428282;ENST00000360051;ENST00000445030;ENST00000407017;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000436795;ENST00000411484;ENST00000434955;ENST00000402092;ENST00000441533;ENST00000443492;ENST00000437066;ENST00000420786;ENST00000391972;ENST00000449239	T;T;T;T;T;T;T;D;T;T;T;T;T;T;T;T;T	0.86497	0.1;0.1;0.1;0.1;0.44;0.1;0.1;-2.13;0.1;0.1;0.1;0.1;0.1;1.12;0.1;0.1;0.1	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.96485	0.8853	H	0.97918	4.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.97574	1.0106	10	0.87932	D	0	.	19.9197	0.97082	0.0:1.0:0.0:0.0	.	86;11;51	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	L	51;11;51;51;11;51;51;11;51;62;51;51;51;11;51;51;86;51	ENSP00000375834:S51L;ENSP00000397195:S11L;ENSP00000353157:S51L;ENSP00000404484:S51L;ENSP00000386001:S11L;ENSP00000375832:S51L;ENSP00000385109:S51L;ENSP00000384525:S11L;ENSP00000406181:S51L;ENSP00000394666:S62L;ENSP00000399767:S51L;ENSP00000385172:S51L;ENSP00000413031:S51L;ENSP00000399195:S11L;ENSP00000412434:S51L;ENSP00000409596:S51L;ENSP00000391717:S51L	ENSP00000353157:S51L	S	+	2	0	SEPT2	241923235	1.000000	0.71417	0.986000	0.45419	0.882000	0.50991	7.563000	0.82314	2.702000	0.92279	0.655000	0.94253	TCG		0.363	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		8	8	0	0	0	1	0	8	8					T	242274562	C	T	242274562	3	4	48	1	0	0	0	0	1	0	0	0	14079	893	31	1	162	1	SEPT2	2	242274562	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	194623	242274562	924811	864	5332										
PDCD1	5133	broad.mit.edu	37	chr2	242795030	242795030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtttagcacgaagctctccGatgtgttggagaagctgcag	13	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242795030G>A	ENST00000334409.5	-	2	248	c.179C>T	c.(178-180)tCg>tTg	p.S60L		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	60	Ig-like V-type.				apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GAAGCTCTCCGATGTGTTGGA	0.657																																						ENST00000334409.5																			0				endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8						c.(178-180)tCg>tTg		programmed cell death 1							65	56	59					2																	242795030		2203	4300	6503	SO:0001583	missense	5133				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	g.chr2:242795030G>A	AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	8760	protein-coding gene	gene with protein product		600244	"systemic lupus erythematosus susceptibility 2"	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.179C>T	2.37:g.242795030G>A	ENSP00000335062:p.Ser60Leu		Somatic					p.S60L	NM_005018.2	NP_005009.2	WXS	Illumina GAIIx	Phase_I	Q15116	PDCD1_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)	2	248	-		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)	60			Ig-like V-type.		O00517|Q8IX89	Missense_Mutation	SNP	ENST00000334409.5	37	c.179C>T	CCDS33428.1	.	.	.	.	.	.	.	.	.	.	.	8.698	0.909151	0.17833	.	.	ENSG00000188389	ENST00000334409;ENST00000539073	T	0.22336	1.96	3.53	1.61	0.23674	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.849075	0.10091	N	0.717174	T	0.17023	0.0409	L	0.32530	0.975	0.09310	N	1	D	0.56746	0.977	B	0.43018	0.405	T	0.16571	-1.0398	10	0.37606	T	0.19	-10.7589	9.5893	0.39537	0.0:0.3795:0.6205:0.0	.	60	Q15116	PDCD1_HUMAN	L	60	ENSP00000335062:S60L	ENSP00000335062:S60L	S	-	2	0	PDCD1	242443703	0.002000	0.14202	0.000000	0.03702	0.018000	0.09664	1.124000	0.31320	0.438000	0.26450	0.556000	0.70494	TCG		0.657	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1	NM_005018		14	26	0	0	0	1	0	14	26					A	242795030	G	A	242795030	3	1	48	1	0	0	0	0	1	0	0	0	11624	1059	37	1	703	1	PDCD1	2	242795030	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	520468	242795030	404343	865	5333										
CHL1	10752	broad.mit.edu	37	chr3	391106	391106	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaaggggagagaaacaaaaGaaaattatggcaagactttg	11	4	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:391106G>T	ENST00000256509.2	+	10	1555	c.913G>T	c.(913-915)Gaa>Taa	p.E305*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.E289*	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	787	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)		AGAAACAAAAGAAAATTATGG	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.(913-915)Gaa>Taa		cell adhesion molecule L1-like							72	74	73					3																	391106		2203	4300	6503	SO:0001587	stop_gained	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:391106G>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.913G>T	3.37:g.391106G>T	ENSP00000256509:p.Glu305*		Somatic				CHL1_ENST00000397491.2_Nonsense_Mutation_p.E289*	p.E305*	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)	10	1555	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	289			Ig-like C2-type 3.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Nonsense_Mutation	SNP	ENST00000256509.2	37	c.913G>T	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	40	8.528541	0.98850	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	.	.	.	5.33	3.54	0.40534	.	0.172283	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	10.0904	0.42443	0.1557:0.0:0.8443:0.0	.	.	.	.	X	305;289	.	ENSP00000256509:E305X	E	+	1	0	CHL1	366106	1.000000	0.71417	0.765000	0.31456	0.687000	0.40016	3.381000	0.52455	0.746000	0.32786	0.557000	0.71058	GAA		0.383	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		18	35	1	0	1.99824e-07	1	2.29918e-07	18	35					T	391106	G	T	391106	4	4	48	1	0	0	0	0	0	1	0	0	3351	943	33	2	943	2	CHL1	3	391106	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08		391106	197631324	866	5334										
CHL1	10752	broad.mit.edu	37	chr3	424189	424189	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatttgaaggaaacaaagaaGagcctggaaggtgggaggaa	15	3	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:424189G>T	ENST00000256509.2	+	18	2653	c.2011G>T	c.(2011-2013)Gag>Tag	p.E671*	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Nonsense_Mutation_p.E655*	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)		AAACAAAGAAGAGCCTGGAAG	0.373																																						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.(2011-2013)Gag>Tag		cell adhesion molecule L1-like							91	106	101					3																	424189		2203	4300	6503	SO:0001587	stop_gained	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:424189G>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.2011G>T	3.37:g.424189G>T	ENSP00000256509:p.Glu671*		Somatic				CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Nonsense_Mutation_p.E655*	p.E671*	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)	18	2653	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	655			Fibronectin type-III 1.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Nonsense_Mutation	SNP	ENST00000256509.2	37	c.2011G>T	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	44	10.953605	0.99494	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	.	.	.	4.75	4.75	0.60458	.	0.241410	0.40640	N	0.001045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.0856	0.89456	0.0:0.0:1.0:0.0	.	.	.	.	X	671;655	.	ENSP00000256509:E671X	E	+	1	0	CHL1	399189	1.000000	0.71417	0.860000	0.33809	0.880000	0.50808	4.866000	0.63005	2.336000	0.79503	0.591000	0.81541	GAG		0.373	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		30	86	1	0	1.30988e-24	1	1.84044e-24	30	86					T	424189	G	T	424189	4	4	48	1	0	0	0	0	0	1	0	0	3351	943	33	2	2073	2	CHL1	3	424189	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	33083	424189	197598241	867	5335										
CNTN4	152330	broad.mit.edu	37	chr3	3097838	3097838	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggatctggggcttccacttcGaatgcatgtacgctgtcagc	12	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:3097838G>A	ENST00000397461.1	+	24	3399	c.3015G>A	c.(3013-3015)tcG>tcA	p.S1005S	CNTN4_ENST00000397459.2_Silent_p.S677S|CNTN4_ENST00000358480.3_Silent_p.S786S|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Silent_p.S677S|CNTN4_ENST00000418658.1_Silent_p.S1005S|CNTN4_ENST00000427331.1_Silent_p.S1005S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	1005					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)		CTTCCACTTCGAATGCATGTA	0.463																																						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.(3013-3015)tcG>tcA		contactin 4							123	111	115					3																	3097838		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.chr3:3097838G>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.3015G>A	3.37:g.3097838G>A			Somatic				CNTN4_ENST00000397459.2_Silent_p.S677S|CNTN4_ENST00000418658.1_Silent_p.S1005S|CNTN4_ENST00000427331.1_Silent_p.S1005S|CNTN4_ENST00000358480.3_Silent_p.S786S|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000448906.2_Silent_p.S677S	p.S1005S	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)	24	3399	+		Ovarian(110;0.156)	1005					B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.3015G>A	CCDS43041.1																																																																																				0.463	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			12	30	0	0	0	1	0	12	30					A	3097838	G	A	3097838	2	1	48	1	0	0	0	0	0	0	0	1	3645	1045	37	1		1	CNTN4	3	3097838	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2673649	3097838	194924592	868	5336										
ITPR1	3708	broad.mit.edu	37	chr3	4854917	4854917	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctctcctgcacccagagaAggtaggacctcctaactgta	8	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:4854917A>C	ENST00000443694.2	+	54	7515	c.7515A>C	c.(7513-7515)gaA>gaC	p.E2505D	AC018816.3_ENST00000489771.1_5'Flank|ITPR1_ENST00000544951.1_Splice_Site_p.E483D|ITPR1_ENST00000423119.2_Splice_Site_p.E2472D|ITPR1_ENST00000354582.6_Splice_Site_p.E2505D|ITPR1_ENST00000302640.8_Splice_Site_p.E2505D|ITPR1_ENST00000357086.4_Splice_Site_p.E2472D|ITPR1_ENST00000456211.2_Splice_Site_p.E2457D|ITPR1_ENST00000463980.1_3'UTR			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2520	Interaction with ERP44. {ECO:0000250}.				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)	CACCCAGAGAAGGTAGGACCT	0.517																																						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.e56+1		inositol 1,4,5-trisphosphate receptor, type 1							101	101	101					3																	4854917		1930	4125	6055	SO:0001630	splice_region_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4854917A>C	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.7516+1A>C	3.37:g.4854917A>C			Somatic				ITPR1_ENST00000357086.4_Splice_Site_p.E2472_splice|ITPR1_ENST00000544951.1_Splice_Site_p.E483_splice|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000354582.6_Splice_Site_p.E2505_splice|ITPR1_ENST00000456211.2_Splice_Site_p.E2457_splice|ITPR1_ENST00000443694.2_Splice_Site_p.E2505_splice|ITPR1_ENST00000423119.2_Splice_Site_p.E2472_splice	p.E2505_splice	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)	56	7865	+			2520			Interaction with ERP44 (By similarity).		E7EPX7|E9PDE9|Q14660|Q99897	Splice_Site	SNP	ENST00000443694.2	37	c.7516_splice	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	A	4.596	0.110840	0.08780	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.97505	-2.8;-2.79;-2.79;-2.79;-2.79;-4.41;-2.8	5.08	5.08	0.68730	Ion transport (1);	0.501716	0.21482	N	0.073810	D	0.91399	0.7286	N	0.17474	0.49	0.80722	D	1	B;B;B	0.15473	0.013;0.0;0.0	B;B;B	0.26094	0.066;0.003;0.003	D	0.85354	0.1103	10	0.13853	T	0.58	.	6.1193	0.20144	0.6729:0.167:0.0:0.1601	.	483;2520;2472	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	D	2520;2505;2505;2472;966;2472;2457;483;2505	ENSP00000306253:E2505D;ENSP00000346595:E2505D;ENSP00000405934:E2472D;ENSP00000349597:E2472D;ENSP00000397885:E2457D;ENSP00000440564:E483D;ENSP00000401671:E2505D	ENSP00000306253:E2505D	E	+	3	2	ITPR1	4829917	1.000000	0.71417	0.994000	0.49952	0.111000	0.19643	1.372000	0.34261	1.913000	0.55393	0.455000	0.32223	GAA		0.517	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	Missense_Mutation	8	79	0	0	0	1	0	8	79					C	4854917	A	C	4854917	5	2	48	1	0	0	0	0	0	0	1	0	7929	86	3	4	7778	4	ITPR1	3	4854917	Splice_Site	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1757079	4854917	193167513	869	5337										
EDEM1	9695	broad.mit.edu	37	chr3	5255095	5255095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atctgtggatgagcatcttcGggaattgccatggaaggaat	13	6	2	1	rs200943819		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:5255095G>A	ENST00000256497.4	+	11	1905	c.1772G>A	c.(1771-1773)cGg>cAg	p.R591Q		NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	591					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GAGCATCTTCGGGAATTGCCA	0.473																																						ENST00000256497.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1771-1773)cGg>cAg		ER degradation enhancer, mannosidase alpha-like 1							89	80	83					3																	5255095		2203	4300	6503	SO:0001583	missense	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5255095G>A	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1772G>A	3.37:g.5255095G>A	ENSP00000256497:p.Arg591Gln		Somatic					p.R591Q	NM_014674.2	NP_055489.1	WXS	Illumina GAIIx	Phase_I	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	11	1905	+			591					A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	c.1772G>A	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304516	0.81136	.	.	ENSG00000134109	ENST00000256497	D	0.83419	-1.72	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.80281	0.4594	M	0.63843	1.955	0.80722	D	1	P	0.44006	0.824	B	0.35073	0.195	T	0.80219	-0.1473	10	0.30854	T	0.27	-29.1823	19.2516	0.93926	0.0:0.0:1.0:0.0	.	591	Q92611	EDEM1_HUMAN	Q	591	ENSP00000256497:R591Q	ENSP00000256497:R591Q	R	+	2	0	EDEM1	5230095	1.000000	0.71417	0.991000	0.47740	0.717000	0.41224	9.300000	0.96151	2.530000	0.85305	0.655000	0.94253	CGG		0.473	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		9	19	0	0	0	1	0	9	19					A	5255095	G	A	5255095	3	1	48	1	0	0	0	0	1	0	0	0	4913	1116	39	1	1814	1	EDEM1	3	5255095	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	400178	5255095	192767335	870	5338										
GRM7	2917	broad.mit.edu	37	chr3	7494314	7494314	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacaggagagaattggaaaaGattccaactatgagcaggag	13	5	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:7494314G>T	ENST00000357716.4	+	6	1469	c.1195G>T	c.(1195-1197)Gat>Tat	p.D399Y	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.D399Y|GRM7_ENST00000403881.1_Missense_Mutation_p.D399Y|GRM7_ENST00000486284.1_Missense_Mutation_p.D399Y|GRM7_ENST00000389336.4_Missense_Mutation_p.D399Y	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	399					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.D399Y(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AATTGGAAAAGATTCCAACTA	0.433																																						ENST00000486284.1																			1	Substitution - Missense(1)	p.D399Y(1)	large_intestine(1)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(1195-1197)Gat>Tat		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						115	102	106					3																	7494314		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7494314G>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1195G>T	3.37:g.7494314G>T	ENSP00000350348:p.Asp399Tyr		Somatic				GRM7_ENST00000402647.2_Missense_Mutation_p.D399Y|GRM7_ENST00000357716.4_Missense_Mutation_p.D399Y|GRM7_ENST00000403881.1_Missense_Mutation_p.D399Y|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.D399Y	p.D399Y	NM_181874.2	NP_870989.1	WXS	Illumina GAIIx	Phase_I	Q14831	GRM7_HUMAN			6	1469	+			399					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.1195G>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153259	0.78114	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.049461	0.85682	D	0.000000	D	0.91546	0.7330	M	0.87269	2.87	0.58432	D	0.999997	D;D;P	0.69078	0.997;0.997;0.794	D;D;P	0.70487	0.948;0.969;0.577	D	0.88668	0.3193	10	0.16896	T	0.51	.	18.8061	0.92038	0.0:0.0:1.0:0.0	.	399;399;399	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	Y	399;399;399;399;399;399;399;56	ENSP00000350348:D399Y;ENSP00000417536:D399Y;ENSP00000373987:D399Y;ENSP00000385664:D399Y;ENSP00000384585:D399Y;ENSP00000395035:D56Y	ENSP00000350348:D399Y	D	+	1	0	GRM7	7469314	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.961000	0.87903	2.782000	0.95742	0.655000	0.94253	GAT		0.433	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		11	51	1	0	3.07112e-06	1	3.42433e-06	11	51					T	7494314	G	T	7494314	3	4	48	1	0	0	0	0	1	0	0	0	6811	942	33	2	1217	2	GRM7	3	7494314	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2239219	7494314	190528116	871	5339										
GRM7	2917	broad.mit.edu	37	chr3	7620981	7620981	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attggattcactatgtacacGacatgtatagtatggcttgc	9	7	1	0	rs117160055	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:7620981G>A	ENST00000357716.4	+	8	2662	c.2388G>A	c.(2386-2388)acG>acA	p.T796T	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Silent_p.T796T|GRM7_ENST00000403881.1_Silent_p.T796T|GRM7_ENST00000486284.1_Silent_p.T796T|GRM7_ENST00000389336.4_Silent_p.T796T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	796					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CTATGTACACGACATGTATAG	0.403													G|||	11	0.00219649	8e-04	0	5008	,	,		19856	0.0099		0	False		,,,				2504	0					ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(2386-2388)acG>acA		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)	G	,	2,4404	4.2+/-10.8	0,2,2201	58	56	57		2388,2388	-6	0.5	3	dbSNP_133	57	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GRM7	NM_000844.3,NM_181874.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	796/916,796/923	7620981	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620981G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2388G>A	3.37:g.7620981G>A			Somatic				GRM7_ENST00000402647.2_Silent_p.T796T|GRM7_ENST00000357716.4_Silent_p.T796T|GRM7_ENST00000403881.1_Silent_p.T796T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.T796T	p.T796T	NM_181874.2	NP_870989.1	WXS	Illumina GAIIx	Phase_I	Q14831	GRM7_HUMAN			8	2662	+			796					Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.2388G>A	CCDS43042.1																																																																																				0.403	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		15	20	0	0	0	1	0	15	20					A	7620981	G	A	7620981	2	1	48	1	0	0	0	0	0	0	0	1	6811	1045	37	1		1	GRM7	3	7620981	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	126667	7620981	190401449	872	5340										
C3orf32	51066	broad.mit.edu	37	chr3	8667970	8667970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttctcccccttgcaggtggCgcaggtcttgttccctctcc	9	17	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:8667970C>T	ENST00000317371.4	-	16	1871	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	SSUH2_ENST00000341795.3_Missense_Mutation_p.A216T|SSUH2_ENST00000544814.1_Missense_Mutation_p.A238T|SSUH2_ENST00000415132.1_Missense_Mutation_p.A216T			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	216	Cys-rich.					cytoplasm (GO:0005737)											TTGCAGGTGGCGCAGGTCTTG	0.572																																						ENST00000317371.4																			0											c.(646-648)Gcc>Acc		ssu-2 homolog (C. elegans)							225	183	197					3																	8667970		2203	4300	6503	SO:0001583	missense	51066							g.chr3:8667970C>T	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 32"	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.646G>A	3.37:g.8667970C>T	ENSP00000324551:p.Ala216Thr		Somatic				SSUH2_ENST00000415132.1_Missense_Mutation_p.A216T|SSUH2_ENST00000544814.1_Missense_Mutation_p.A238T|SSUH2_ENST00000341795.3_Missense_Mutation_p.A216T	p.A216T			WXS	Illumina GAIIx	Phase_I					16	1871	-								A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	c.646G>A	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	C	8.846	0.943314	0.18281	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814	T;T;T;T	0.43294	0.98;0.98;0.95;0.99	4.91	3.12	0.35913	.	0.584960	0.18356	N	0.143702	T	0.35595	0.0937	M	0.65975	2.015	0.31562	N	0.657391	B;B	0.27971	0.196;0.196	B;B	0.26517	0.07;0.07	T	0.36138	-0.9760	10	0.14252	T	0.57	-24.3147	7.659	0.28392	0.0:0.803:0.0:0.197	.	238;216	F5H2S5;Q9Y2M2	.;CC032_HUMAN	T	216;216;216;238	ENSP00000339150:A216T;ENSP00000324551:A216T;ENSP00000410757:A216T;ENSP00000439378:A238T	ENSP00000324551:A216T	A	-	1	0	C3orf32	8642970	0.831000	0.29352	0.986000	0.45419	0.629000	0.37895	0.447000	0.21710	0.494000	0.27859	-0.216000	0.12614	GCC		0.572	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		53	102	0	0	0	1	0	53	102					T	8667970	C	T	8667970	3	4	48	1	0	0	0	0	1	0	0	0	2224	768	27	1	431	1	C3orf32	3	8667970	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1046989	8667970	189354460	873	5341										
OXTR	5021	broad.mit.edu	37	chr3	8809319	8809319	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgaagacggcccagcagtcGaagacgccgtcagccacctc	11	15	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:8809319G>A	ENST00000316793.3	-	3	1179	c.555C>T	c.(553-555)ttC>ttT	p.F185F	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	185					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)	CCCAGCAGTCGAAGACGCCGT	0.662																																						ENST00000316793.3																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13						c.(553-555)ttC>ttT		oxytocin receptor	Carbetocin(DB01282)						48	51	50					3																	8809319		2203	4300	6503	SO:0001819	synonymous_variant	5021				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	g.chr3:8809319G>A		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.555C>T	3.37:g.8809319G>A			Somatic				CAV3_ENST00000472766.1_Intron	p.F185F	NM_000916.3	NP_000907.2	WXS	Illumina GAIIx	Phase_I	P30559	OXYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.15)	3	1179	-			185					Q15071	Silent	SNP	ENST00000316793.3	37	c.555C>T	CCDS2570.1																																																																																				0.662	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			43	54	0	0	0	1	0	43	54					A	8809319	G	A	8809319	2	1	48	1	0	0	0	0	0	0	0	1	11347	1049	37	1		1	OXTR	3	8809319	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	141349	8809319	189213111	874	5342										
RAD18	56852	broad.mit.edu	37	chr3	8981263	8981263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaggctttccttcttctcttCgcgtgataaacagctgtcta	8	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:8981263C>T	ENST00000264926.2	-	6	795	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	RAD18_ENST00000495087.1_5'Flank	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	227					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TTCTTCTCTTCGCGTGATAAA	0.403								Rad6 pathway																														ENST00000264926.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(679-681)Gaa>Aaa	Rad6 pathway	RAD18 homolog (S. cerevisiae)							183	187	186					3																	8981263		2203	4300	6503	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8981263C>T		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"RING-type (C3HC4) zinc fingers"	18278	protein-coding gene	gene with protein product		605256	"RAD18 homolog (S. cerevisiae)"			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.679G>A	3.37:g.8981263C>T	ENSP00000264926:p.Glu227Lys		Somatic					p.E227K	NM_020165.3	NP_064550.3	WXS	Illumina GAIIx	Phase_I	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	6	795	-			227					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.679G>A	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308529	0.81247	.	.	ENSG00000070950	ENST00000264926	T	0.23754	1.89	5.87	5.87	0.94306	.	0.282060	0.40064	N	0.001186	T	0.29389	0.0732	M	0.70275	2.135	0.53688	D	0.999975	B	0.31125	0.309	B	0.27500	0.08	T	0.12218	-1.0556	10	0.10377	T	0.69	-8.7997	18.7722	0.91896	0.0:1.0:0.0:0.0	.	227	Q9NS91	RAD18_HUMAN	K	227	ENSP00000264926:E227K	ENSP00000264926:E227K	E	-	1	0	RAD18	8956263	0.993000	0.37304	0.588000	0.28705	0.936000	0.57629	7.266000	0.78452	2.774000	0.95407	0.650000	0.86243	GAA		0.403	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		12	46	0	0	0	1	0	12	46					T	8981263	C	T	8981263	3	4	48	1	0	0	0	0	1	0	0	0	12995	893	31	1	840	1	RAD18	3	8981263	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	171944	8981263	189041167	875	5343										
SETD5	55209	broad.mit.edu	37	chr3	9489440	9489440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taggccccggccgaagagtcGaatttctcggtacaggacca	12	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:9489440G>A	ENST00000406341.1	+	14	2043	c.1853G>A	c.(1852-1854)cGa>cAa	p.R618Q	SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402198.1_Missense_Mutation_p.R618Q|SETD5_ENST00000402466.1_Missense_Mutation_p.R520Q|SETD5_ENST00000302463.6_Missense_Mutation_p.R520Q|SETD5_ENST00000407969.1_Missense_Mutation_p.R637Q			Q9C0A6	SETD5_HUMAN	SET domain containing 5	618								p.R520L(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)		CCGAAGAGTCGAATTTCTCGG	0.522																																						ENST00000402466.1																			1	Substitution - Missense(1)	p.R520L(1)	breast(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						c.(1558-1560)cGa>cAa		SET domain containing 5							92	95	94					3																	9489440		1936	4132	6068	SO:0001583	missense	55209							g.chr3:9489440G>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.1853G>A	3.37:g.9489440G>A	ENSP00000383939:p.Arg618Gln		Somatic				SETD5_ENST00000402198.1_Missense_Mutation_p.R618Q|SETD5_ENST00000406341.1_Missense_Mutation_p.R618Q|SETD5_ENST00000407969.1_Missense_Mutation_p.R637Q|SETD5_ENST00000302463.6_Missense_Mutation_p.R520Q|SETD5_ENST00000488236.1_3'UTR	p.R520Q			WXS	Illumina GAIIx	Phase_I	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	16	2327	+	Medulloblastoma(99;0.227)		618					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.1559G>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	32	5.191728	0.94923	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.93547	-2.9;-3.24;-2.9;-2.88;-3.24	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	L	0.59436	1.845	0.54753	D	0.999987	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.99;0.988;0.988	D	0.95672	0.8724	10	0.52906	T	0.07	-7.3921	19.8199	0.96589	0.0:0.0:1.0:0.0	.	287;520;618;637	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.;.;SETD5_HUMAN;.	Q	618;520;618;637;520	ENSP00000385852:R618Q;ENSP00000384429:R520Q;ENSP00000383939:R618Q;ENSP00000384114:R637Q;ENSP00000302028:R520Q	ENSP00000302028:R520Q	R	+	2	0	SETD5	9464440	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.275000	0.95738	2.677000	0.91161	0.655000	0.94253	CGA		0.522	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		46	103	0	0	0	1	0	46	103					A	9489440	G	A	9489440	3	1	48	1	0	0	0	0	1	0	0	0	14149	1058	37	1	1903	1	SETD5	3	9489440	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	508177	9489440	188532990	876	5344										
RPUSD3	285367	broad.mit.edu	37	chr3	9883747	9883747	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctggcagcactgagaacaaCgtcagctctcctggttttcc	9	13	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:9883747C>T	ENST00000383820.5	-	4	328	c.327G>A	c.(325-327)acG>acA	p.T109T	TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000433535.2_Silent_p.T94T|RPUSD3_ENST00000424438.1_Silent_p.T77T|RPUSD3_ENST00000485705.1_5'UTR	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	109					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					CTGAGAACAACGTCAGCTCTC	0.522																																						ENST00000383820.5																			0				central_nervous_system(2)|endometrium(3)|lung(2)	7						c.(325-327)acG>acA		RNA pseudouridylate synthase domain containing 3							128	127	127					3																	9883747		2203	4300	6503	SO:0001819	synonymous_variant	285367				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr3:9883747C>T	BC032135	CCDS2586.2, CCDS46744.1	3p25.3	2013-02-11			ENSG00000156990	ENSG00000156990		"RNA pseudouridylate synthase domain containing"	28437	protein-coding gene	gene with protein product						12477932	Standard	NM_173659		Approved	MGC29784	uc011atk.2	Q6P087	OTTHUMG00000128441	ENST00000383820.5:c.327G>A	3.37:g.9883747C>T			Somatic				TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000424438.1_Silent_p.T77T|RPUSD3_ENST00000485705.1_5'UTR|RPUSD3_ENST00000433535.2_Silent_p.T94T	p.T109T	NM_173659.3	NP_775930.2	WXS	Illumina GAIIx	Phase_I	Q6P087	RUSD3_HUMAN			4	328	-	Medulloblastoma(99;0.227)		109					B4DS39|Q6P6A9|Q8N1B2|Q8NAV3	Silent	SNP	ENST00000383820.5	37	c.327G>A	CCDS2586.2	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.534889	0.00942	.	.	ENSG00000156990	ENST00000427174;ENST00000433555	.	.	.	5.12	-10.2	0.00374	.	.	.	.	.	T	0.41766	0.1173	.	.	.	0.47819	D	0.999528	.	.	.	.	.	.	T	0.59658	-0.7413	4	.	.	.	.	4.6112	0.12404	0.2943:0.4235:0.0741:0.2081	.	.	.	.	H	100;51	.	.	R	-	2	0	RPUSD3	9858747	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-9.422000	0.00011	-4.872000	0.00029	-1.119000	0.02030	CGT		0.522	RPUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250238.1	NM_173659		72	94	0	0	0	1	0	72	94					T	9883747	C	T	9883747	2	4	48	1	0	0	0	0	0	0	0	1	13683	523	19	1		1	RPUSD3	3	9883747	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	394307	9883747	188138683	877	5345										
TATDN2	9797	broad.mit.edu	37	chr3	10311962	10311962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccttcttccttcaccaccGactatgtcatgtaccctcct	4	17	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:10311962G>A	ENST00000287652.4	+	4	2147	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	TATDN2_ENST00000448281.2_Missense_Mutation_p.D366N|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	366					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						CTTCACCACCGACTATGTCAT	0.537																																						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.(1096-1098)Gac>Aac		TatD DNase domain containing 2							164	158	160					3																	10311962		2203	4300	6503	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10311962G>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.1096G>A	3.37:g.10311962G>A	ENSP00000287652:p.Asp366Asn		Somatic				RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.D366N	p.D366N	NM_014760.3	NP_055575.3	WXS	Illumina GAIIx	Phase_I	Q93075	TATD2_HUMAN			4	2147	+			366					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.1096G>A	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943814	0.73672	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.44881	0.91;0.91	4.73	3.78	0.43462	.	0.000000	0.35615	U	0.003097	T	0.46444	0.1393	M	0.64997	1.995	0.29128	N	0.879817	D	0.67145	0.996	P	0.51385	0.668	T	0.49986	-0.8880	10	0.87932	D	0	-25.7151	7.6529	0.28358	0.0:0.1779:0.6386:0.1835	.	366	Q93075	TATD2_HUMAN	N	366	ENSP00000287652:D366N;ENSP00000408736:D366N	ENSP00000287652:D366N	D	+	1	0	TATDN2	10286962	0.998000	0.40836	0.998000	0.56505	0.709000	0.40893	3.069000	0.50026	2.353000	0.79882	0.644000	0.83932	GAC		0.537	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		56	93	0	0	0	1	0	56	93					A	10311962	G	A	10311962	3	1	48	1	0	0	0	0	1	0	0	0	15607	1058	37	1	1106	1	TATDN2	3	10311962	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	428215	10311962	187710468	878	5346										
SLC6A11	6538	broad.mit.edu	37	chr3	10970992	10970992	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcctagccttgtctgttatCtcctattttctgggcctcgt	7	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:10970992C>A	ENST00000254488.2	+	10	1404	c.1338C>A	c.(1336-1338)atC>atA	p.I446I		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	446					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	TGTCTGTTATCTCCTATTTTC	0.567																																						ENST00000254488.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1336-1338)atC>atA		solute carrier family 6 (neurotransmitter transporter), member 11							225	205	212					3																	10970992		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.chr3:10970992C>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.1338C>A	3.37:g.10970992C>A			Somatic					p.I446I	NM_014229.1	NP_055044.1	WXS	Illumina GAIIx	Phase_I	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	10	1404	+			446					B2R6U6|Q8IYC9	Silent	SNP	ENST00000254488.2	37	c.1338C>A	CCDS2602.1																																																																																				0.567	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		42	82	1	0	8.69298e-16	1	1.14932e-15	42	82					A	10970992	C	A	10970992	2	1	48	1	0	0	0	0	0	0	0	1	14689	903	32	2		2	SLC6A11	3	10970992	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	659030	10970992	187051438	879	5347										
SLC6A1	6529	broad.mit.edu	37	chr3	11064023	11064023	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccctccactgtttgaccaggCgcaacatgcatcagatgacg	9	14	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:11064023C>T	ENST00000287766.4	+	7	1004	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	SLC6A1_ENST00000536032.1_Splice_Site_p.R17C	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	195					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	TTTGACCAGGCGCAACATGCA	0.602																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.e7-1		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						66	58	60					3																	11064023		2203	4300	6503	SO:0001630	splice_region_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11064023C>T		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"Solute carriers"	11042	protein-coding gene	gene with protein product	"GABA transporter 1"	137165	"solute carrier family 6 (neurotransmitter transporter, GABA), member 1"			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.582-1C>T	3.37:g.11064023C>T			Somatic				SLC6A1_ENST00000536032.1_Splice_Site_p.R17_splice	p.R195_splice	NM_003042.3	NP_003033.3	WXS	Illumina GAIIx	Phase_I	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	7	1004	+		Ovarian(110;0.0392)	195					Q8N4K8	Splice_Site	SNP	ENST00000287766.4	37	c.581_splice	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076246	0.94000	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.77877	-1.13;-1.13	5.02	5.02	0.67125	.	0.074293	0.56097	D	0.000023	D	0.91734	0.7386	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.94022	0.7293	10	0.87932	D	0	.	18.5391	0.91020	0.0:1.0:0.0:0.0	.	195	P30531	SC6A1_HUMAN	C	195;17	ENSP00000287766:R195C;ENSP00000445171:R17C	ENSP00000287766:R195C	R	+	1	0	SLC6A1	11039023	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.617000	0.61204	2.607000	0.88179	0.561000	0.74099	CGC		0.602	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042	Missense_Mutation	13	29	0	0	0	1	0	13	29					T	11064023	C	T	11064023	5	4	48	1	0	0	0	0	0	0	1	0	14688	782	27	1	601	1	SLC6A1	3	11064023	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	93031	11064023	186958407	880	5348										
TSEN2	80746	broad.mit.edu	37	chr3	12531417	12531417	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctgaaagaattcaagataTtccgtgctgaaatgattaac	7	7	2	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:12531417T>G	ENST00000284995.6	+	2	505	c.118T>G	c.(118-120)Ttc>Gtc	p.F40V	TSEN2_ENST00000415684.1_Missense_Mutation_p.F40V|TSEN2_ENST00000402228.3_Missense_Mutation_p.F40V|TSEN2_ENST00000454502.2_Missense_Mutation_p.F40V|TSEN2_ENST00000383797.5_Missense_Mutation_p.F40V|TSEN2_ENST00000314571.7_Missense_Mutation_p.F40V|TSEN2_ENST00000444864.1_Missense_Mutation_p.F40V	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	40					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						ATTCAAGATATTCCGTGCTGA	0.448																																						ENST00000444864.1																			0				central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						c.(118-120)Ttc>Gtc		TSEN2 tRNA splicing endonuclease subunit							119	112	114					3																	12531417		2203	4300	6503	SO:0001583	missense	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12531417T>G	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"tRNA splicing endonuclease subunits"	28422	protein-coding gene	gene with protein product		608753	"tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)", "tRNA splicing endonuclease 2 homolog (S. cerevisiae)"			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.118T>G	3.37:g.12531417T>G	ENSP00000284995:p.Phe40Val		Somatic				TSEN2_ENST00000454502.2_Missense_Mutation_p.F40V|TSEN2_ENST00000415684.1_Missense_Mutation_p.F40V|TSEN2_ENST00000402228.3_Missense_Mutation_p.F40V|TSEN2_ENST00000383797.5_Missense_Mutation_p.F40V|TSEN2_ENST00000314571.7_Missense_Mutation_p.F40V|TSEN2_ENST00000284995.6_Missense_Mutation_p.F40V	p.F40V	NM_001145395.1	NP_001138867.1	WXS	Illumina GAIIx	Phase_I	Q8NCE0	SEN2_HUMAN			2	505	+			40					B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	ENST00000284995.6	37	c.118T>G	CCDS2611.1	.	.	.	.	.	.	.	.	.	.	.	12.28	1.889435	0.33348	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T;T	0.60040	0.28;0.25;0.31;0.29;0.32;0.32;0.22;0.25	5.7	5.7	0.88788	.	0.503154	0.21273	N	0.077282	T	0.64182	0.2575	M	0.63428	1.95	0.30766	N	0.743559	P;P;P;P	0.48764	0.915;0.839;0.915;0.745	P;B;P;B	0.50896	0.574;0.298;0.653;0.118	T	0.67635	-0.5620	10	0.37606	T	0.19	-13.1465	13.4978	0.61436	0.0:0.0:0.0:1.0	.	40;40;40;40	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	V	40	ENSP00000406238:F40V;ENSP00000323188:F40V;ENSP00000392029:F40V;ENSP00000373307:F40V;ENSP00000385976:F40V;ENSP00000284995:F40V;ENSP00000407974:F40V;ENSP00000416510:F40V	ENSP00000284995:F40V	F	+	1	0	TSEN2	12506417	0.998000	0.40836	0.187000	0.23214	0.028000	0.11728	4.801000	0.62532	2.168000	0.68352	0.533000	0.62120	TTC		0.448	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		33	48	0	0	0	1	0	33	48					G	12531417	T	G	12531417	3	3	48	1	0	0	0	0	1	0	0	0	16627	1493	52	4	120	4	TSEN2	3	12531417	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1467394	12531417	185491013	881	5349										
TSEN2	80746	broad.mit.edu	37	chr3	12544934	12544934	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctggaatggtttccaacaTggaaggcacagcagggggag	15	8	1	0	rs36084365		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:12544934T>C	ENST00000284995.6	+	5	869	c.482T>C	c.(481-483)aTg>aCg	p.M161T	TSEN2_ENST00000415684.1_Missense_Mutation_p.M161T|TSEN2_ENST00000402228.3_Missense_Mutation_p.M161T|TSEN2_ENST00000454502.2_Missense_Mutation_p.M161T|RNU6-404P_ENST00000515968.1_RNA|TSEN2_ENST00000383797.5_Missense_Mutation_p.M161T|TSEN2_ENST00000314571.7_Missense_Mutation_p.M161T|TSEN2_ENST00000444864.1_Missense_Mutation_p.M161T	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	161					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GTTTCCAACATGGAAGGCACA	0.522																																						ENST00000444864.1																			0				central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						c.(481-483)aTg>aCg		TSEN2 tRNA splicing endonuclease subunit							92	96	95					3																	12544934		2203	4300	6503	SO:0001583	missense	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12544934T>C	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"tRNA splicing endonuclease subunits"	28422	protein-coding gene	gene with protein product		608753	"tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)", "tRNA splicing endonuclease 2 homolog (S. cerevisiae)"			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.482T>C	3.37:g.12544934T>C	ENSP00000284995:p.Met161Thr		Somatic				TSEN2_ENST00000454502.2_Missense_Mutation_p.M161T|TSEN2_ENST00000415684.1_Missense_Mutation_p.M161T|TSEN2_ENST00000402228.3_Missense_Mutation_p.M161T|TSEN2_ENST00000383797.5_Missense_Mutation_p.M161T|TSEN2_ENST00000314571.7_Missense_Mutation_p.M161T|TSEN2_ENST00000284995.6_Missense_Mutation_p.M161T	p.M161T	NM_001145395.1	NP_001138867.1	WXS	Illumina GAIIx	Phase_I	Q8NCE0	SEN2_HUMAN			5	869	+			161					B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	ENST00000284995.6	37	c.482T>C	CCDS2611.1	.	.	.	.	.	.	.	.	.	.	T	4.235	0.042619	0.08196	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T;T	0.53857	0.63;0.61;0.61;0.63;0.63;0.63;0.6;0.61	4.59	-3.02	0.05446	.	1.304080	0.05076	N	0.482543	T	0.36908	0.0984	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.12013	0.005;0.0;0.0;0.0	B;B;B;B	0.12156	0.007;0.0;0.002;0.0	T	0.22626	-1.0211	10	0.06757	T	0.87	0.0855	5.6602	0.17664	0.0:0.4003:0.1695:0.4302	.	161;161;161;161	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	T	161;161;161;161;161;161;161;134;161	ENSP00000406238:M161T;ENSP00000323188:M161T;ENSP00000392029:M161T;ENSP00000373307:M161T;ENSP00000385976:M161T;ENSP00000284995:M161T;ENSP00000407974:M161T;ENSP00000416510:M161T	ENSP00000284995:M161T	M	+	2	0	TSEN2	12519934	0.001000	0.12720	0.000000	0.03702	0.080000	0.17528	0.439000	0.21575	-0.773000	0.04596	0.496000	0.49642	ATG		0.522	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		12	44	0	0	0	1	0	12	44					C	12544934	T	C	12544934	3	2	48	1	0	0	0	0	1	0	0	0	16627	1464	51	4	496	4	TSEN2	3	12544934	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	13517	12544934	185477496	882	5350										
TSEN2	80746	broad.mit.edu	37	chr3	12571276	12571276	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccagttattctgtcattatCgagctagttgatgaccattt	7	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:12571276C>T	ENST00000284995.6	+	10	1539	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	TSEN2_ENST00000415684.1_Silent_p.I358I|TSEN2_ENST00000402228.3_Silent_p.I384I|TSEN2_ENST00000454502.2_Silent_p.I325I|TSEN2_ENST00000383797.5_Silent_p.I367I|C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000314571.7_Silent_p.I358I|TSEN2_ENST00000444864.1_Silent_p.I358I	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	384					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						CTGTCATTATCGAGCTAGTTG	0.373																																						ENST00000444864.1																			0				central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						c.(1072-1074)atC>atT		TSEN2 tRNA splicing endonuclease subunit							96	93	94					3																	12571276		2203	4300	6503	SO:0001819	synonymous_variant	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12571276C>T	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"tRNA splicing endonuclease subunits"	28422	protein-coding gene	gene with protein product		608753	"tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)", "tRNA splicing endonuclease 2 homolog (S. cerevisiae)"			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.1152C>T	3.37:g.12571276C>T			Somatic				C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000454502.2_Silent_p.I325I|TSEN2_ENST00000415684.1_Silent_p.I358I|TSEN2_ENST00000402228.3_Silent_p.I384I|TSEN2_ENST00000383797.5_Silent_p.I367I|TSEN2_ENST00000314571.7_Silent_p.I358I|TSEN2_ENST00000284995.6_Silent_p.I384I	p.I358I	NM_001145395.1	NP_001138867.1	WXS	Illumina GAIIx	Phase_I	Q8NCE0	SEN2_HUMAN			9	1461	+			384					B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Silent	SNP	ENST00000284995.6	37	c.1074C>T	CCDS2611.1																																																																																				0.373	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		19	34	0	0	0	1	0	19	34					T	12571276	C	T	12571276	2	4	48	1	0	0	0	0	0	0	0	1	16627	874	31	1		1	TSEN2	3	12571276	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	26342	12571276	185451154	883	5351										
CAND2	23066	broad.mit.edu	37	chr3	12858428	12858428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attcctgcggaagaaccagcGggctttgcgactggccacac	12	13	0	1	rs200382977		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:12858428G>A	ENST00000456430.2	+	10	2038	c.1997G>A	c.(1996-1998)cGg>cAg	p.R666Q	CAND2_ENST00000295989.5_Missense_Mutation_p.R573Q	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	666					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						AAGAACCAGCGGGCTTTGCGA	0.667																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1996-1998)cGg>cAg		cullin-associated and neddylation-dissociated 2 (putative)		G	GLN/ARG,GLN/ARG	0,4166		0,0,2083	38	42	41		1997,1718	4.9	1	3		41	3,8413		0,3,4205	yes	missense,missense	CAND2	NM_001162499.1,NM_012298.2	43,43	0,3,6288	AA,AG,GG		0.0356,0.0,0.0238	probably-damaging,probably-damaging	666/1237,573/1120	12858428	3,12579	2083	4208	6291	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858428G>A		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1997G>A	3.37:g.12858428G>A	ENSP00000387641:p.Arg666Gln		Somatic				CAND2_ENST00000295989.5_Missense_Mutation_p.R573Q	p.R666Q	NM_001162499.1	NP_001155971.1	WXS	Illumina GAIIx	Phase_I	O75155	CAND2_HUMAN			10	2038	+			666					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.1997G>A	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368050	0.82463	0.0	3.56E-4	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.51071	0.72;0.72	4.95	4.95	0.65309	Armadillo-like helical (1);Armadillo-type fold (1);	0.070502	0.56097	D	0.000025	T	0.76271	0.3964	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.975	T	0.82030	-0.0659	10	0.52906	T	0.07	-31.8767	16.0496	0.80745	0.0:0.0:1.0:0.0	.	666;573	O75155;O75155-2	CAND2_HUMAN;.	Q	573;666	ENSP00000295989:R573Q;ENSP00000387641:R666Q	ENSP00000295989:R573Q	R	+	2	0	CAND2	12833428	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	9.638000	0.98445	2.456000	0.83038	0.561000	0.74099	CGG		0.667	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		43	58	0	0	0	1	0	43	58					A	12858428	G	A	12858428	3	1	48	1	0	0	0	0	1	0	0	0	2618	1116	39	1	2035	1	CAND2	3	12858428	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	287152	12858428	185164002	884	5352										
NUP210	23225	broad.mit.edu	37	chr3	13420466	13420466	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttgggtaacctagaagcacCttgcatgcgaatacctgaat	10	9	0	2	rs573649420		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:13420466C>A	ENST00000254508.5	-	8	1073	c.991G>T	c.(991-993)Ggt>Tgt	p.G331C		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	331					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)					CTAGAAGCACCTTGCATGCGA	0.498																																						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.(991-993)Ggt>Tgt		nucleoporin 210kDa							147	126	133					3																	13420466		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.chr3:13420466C>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.991G>T	3.37:g.13420466C>A	ENSP00000254508:p.Gly331Cys		Somatic					p.G331C	NM_024923.2	NP_079199.2	WXS	Illumina GAIIx	Phase_I	Q8TEM1	PO210_HUMAN			8	1073	-	all_neural(104;0.187)		331					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.991G>T	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746750	0.89663	.	.	ENSG00000132182	ENST00000254508	T	0.05855	3.38	5.17	5.17	0.71159	.	0.500904	0.22840	N	0.054981	T	0.23532	0.0569	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00222	-1.1904	10	0.72032	D	0.01	.	16.426	0.83814	0.0:1.0:0.0:0.0	.	331;331	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	C	331	ENSP00000254508:G331C	ENSP00000254508:G331C	G	-	1	0	NUP210	13395466	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.749000	0.68704	2.386000	0.81285	0.655000	0.94253	GGT		0.498	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		28	46	1	0	1.5548e-18	1	2.10666e-18	28	46					A	13420466	C	A	13420466	3	1	48	1	0	0	0	0	1	0	0	0	10769	681	24	5	4804	5	NUP210	3	13420466	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	562038	13420466	184601964	885	5353										
TMEM43	79188	broad.mit.edu	37	chr3	14172445	14172445	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcacatcattggcgccttaCggacatccaaggtaggtttg	11	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:14172445C>T	ENST00000306077.4	+	3	540	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	96					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						TGGCGCCTTACGGACATCCAA	0.582																																						ENST00000306077.4																			0				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						c.(286-288)Cgg>Tgg		transmembrane protein 43							88	79	82					3																	14172445		2203	4300	6503	SO:0001583	missense	79188					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane		g.chr3:14172445C>T	BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"arrhythmogenic right ventricular dysplasia 5"	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.286C>T	3.37:g.14172445C>T	ENSP00000303992:p.Arg96Trp		Somatic					p.R96W	NM_024334.2	NP_077310.1	WXS	Illumina GAIIx	Phase_I	Q9BTV4	TMM43_HUMAN			3	540	+			96					Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Missense_Mutation	SNP	ENST00000306077.4	37	c.286C>T	CCDS2618.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339812	0.60963	.	.	ENSG00000170876	ENST00000306077	T	0.37752	1.18	5.29	5.29	0.74685	.	0.266539	0.37530	N	0.002044	T	0.39009	0.1062	M	0.63428	1.95	0.49213	D	0.99976	B	0.27594	0.182	B	0.16722	0.016	T	0.33240	-0.9876	10	0.72032	D	0.01	-22.6386	17.7157	0.88336	0.0:1.0:0.0:0.0	.	96	Q9BTV4	TMM43_HUMAN	W	96	ENSP00000303992:R96W	ENSP00000303992:R96W	R	+	1	2	TMEM43	14147446	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.153000	0.50685	2.466000	0.83321	0.591000	0.81541	CGG		0.582	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252030.2	NM_024334		12	66	0	0	0	1	0	12	66					T	14172445	C	T	14172445	3	4	48	1	0	0	0	0	1	0	0	0	16182	527	19	1	296	1	TMEM43	3	14172445	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	751979	14172445	183849985	886	5354										
C3orf20	84077	broad.mit.edu	37	chr3	14724344	14724344	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggcatttctgtaccaaaaGgcatcagaaacatctttgag	8	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:14724344G>T	ENST00000253697.3	+	3	576	c.124G>T	c.(124-126)Ggc>Tgc	p.G42C	C3orf20_ENST00000412910.1_Intron|C3orf20_ENST00000435614.1_Intron	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	42			G -> D (in dbSNP:rs17040154).			cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TGTACCAAAAGGCATCAGAAA	0.512																																						ENST00000253697.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(124-126)Ggc>Tgc		chromosome 3 open reading frame 20							131	135	133					3																	14724344		2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14724344G>T	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.124G>T	3.37:g.14724344G>T	ENSP00000253697:p.Gly42Cys		Somatic				C3orf20_ENST00000412910.1_Intron|C3orf20_ENST00000435614.1_Intron	p.G42C	NM_032137.4	NP_115513.4	WXS	Illumina GAIIx	Phase_I	Q8ND61	CC020_HUMAN			3	576	+			42		G -> D (in dbSNP:rs17040154).			Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.124G>T	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818274	0.71028	.	.	ENSG00000131379	ENST00000253697	T	0.25579	1.79	5.28	5.28	0.74379	.	0.000000	0.48767	D	0.000170	T	0.42359	0.1199	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.31110	-0.9955	10	0.87932	D	0	-26.0886	15.8379	0.78814	0.0:0.0:1.0:0.0	.	42	Q8ND61	CC020_HUMAN	C	42	ENSP00000253697:G42C	ENSP00000253697:G42C	G	+	1	0	C3orf20	14699348	1.000000	0.71417	0.999000	0.59377	0.738000	0.42128	5.001000	0.63946	2.465000	0.83290	0.591000	0.81541	GGC		0.512	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		26	92	1	0	1.16021e-09	1	1.40238e-09	26	92					T	14724344	G	T	14724344	3	4	48	1	0	0	0	0	1	0	0	0	2215	1000	35	5	126	5	C3orf20	3	14724344	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	551899	14724344	183298086	887	5355										
C3orf20	84077	broad.mit.edu	37	chr3	14745900	14745900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcctaccccatgatcttacGaaactacaaggcaaagatgc	6	13	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:14745900G>A	ENST00000253697.3	+	7	1387	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Missense_Mutation_p.R190Q|C3orf20_ENST00000435614.1_Missense_Mutation_p.R190Q	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	312						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R312Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ATGATCTTACGAAACTACAAG	0.493																																						ENST00000253697.3																			1	Substitution - Missense(1)	p.R312Q(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(934-936)cGa>cAa		chromosome 3 open reading frame 20							110	115	113					3																	14745900		2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14745900G>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.935G>A	3.37:g.14745900G>A	ENSP00000253697:p.Arg312Gln		Somatic				C3orf20_ENST00000412910.1_Missense_Mutation_p.R190Q|C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000435614.1_Missense_Mutation_p.R190Q	p.R312Q	NM_032137.4	NP_115513.4	WXS	Illumina GAIIx	Phase_I	Q8ND61	CC020_HUMAN			7	1387	+			312					Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.935G>A	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327885	0.41197	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.09723	3.23;2.95;2.95	4.91	2.8	0.32819	.	0.149471	0.31589	N	0.007385	T	0.07683	0.0193	L	0.34521	1.04	0.23381	N	0.997799	P	0.46952	0.887	B	0.40901	0.343	T	0.23404	-1.0189	10	0.72032	D	0.01	-15.8772	5.0826	0.14664	0.3086:0.0:0.6914:0.0	.	312	Q8ND61	CC020_HUMAN	Q	312;190;190	ENSP00000253697:R312Q;ENSP00000402933:R190Q;ENSP00000396081:R190Q	ENSP00000253697:R312Q	R	+	2	0	C3orf20	14720904	0.748000	0.28294	0.406000	0.26421	0.047000	0.14425	1.386000	0.34419	1.057000	0.40506	0.585000	0.79938	CGA		0.493	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		32	51	0	0	0	1	0	32	51					A	14745900	G	A	14745900	3	1	48	1	0	0	0	0	1	0	0	0	2215	1058	37	1	953	1	C3orf20	3	14745900	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	21556	14745900	183276530	888	5356										
CAPN7	23473	broad.mit.edu	37	chr3	15275456	15275456	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaaactttcagtaaggataAttctttcagaatgctttatc	5	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:15275456A>C	ENST00000253693.2	+	11	1515	c.1262A>C	c.(1261-1263)aAt>aCt	p.N421T		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	421	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				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						AGTAAGGATAATTCTTTCAGA	0.383																																						ENST00000253693.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						c.(1261-1263)aAt>aCt		calpain 7							109	106	107					3																	15275456		2203	4300	6503	SO:0001583	missense	23473				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity	g.chr3:15275456A>C	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.1262A>C	3.37:g.15275456A>C	ENSP00000253693:p.Asn421Thr		Somatic					p.N421T	NM_014296.2	NP_055111.1	WXS	Illumina GAIIx	Phase_I	Q9Y6W3	CAN7_HUMAN			11	1515	+			421			Calpain catalytic.			Missense_Mutation	SNP	ENST00000253693.2	37	c.1262A>C	CCDS2624.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.279|9.279	1.047557|1.047557	0.19827|0.19827	.|.	.|.	ENSG00000131375|ENSG00000131375	ENST00000253693|ENST00000415565	D|.	0.89050|.	-2.46|.	5.18|5.18	-3.64|-3.64	0.04515|0.04515	Peptidase C2, calpain, catalytic domain (3);|.	0.447683|.	0.27455|.	N|.	0.019292|.	T|.	0.26412|.	0.0645|.	N|N	0.13098|0.13098	0.295|0.295	0.30631|0.30631	N|N	0.757447|0.757447	B|.	0.09022|.	0.002|.	B|.	0.19666|.	0.026|.	T|.	0.35992|.	-0.9766|.	10|.	0.29301|.	T|.	0.29|.	-11.0361|-11.0361	13.3254|13.3254	0.60457|0.60457	0.2867:0.0:0.7133:0.0|0.2867:0.0:0.7133:0.0	.|.	421|.	Q9Y6W3|.	CAN7_HUMAN|.	T|Y	421|158	ENSP00000253693:N421T|.	ENSP00000253693:N421T|.	N|X	+|+	2|3	0|2	CAPN7|CAPN7	15250460|15250460	0.892000|0.892000	0.30473|0.30473	0.920000|0.920000	0.36463|0.36463	0.995000|0.995000	0.86356|0.86356	0.451000|0.451000	0.21779|0.21779	-0.463000|-0.463000	0.06973|0.06973	-0.263000|-0.263000	0.10527|0.10527	AAT|TAA		0.383	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296		19	32	0	0	0	1	0	19	32					C	15275456	A	C	15275456	3	2	48	1	0	0	0	0	1	0	0	0	2633	101	4	4	1304	4	CAPN7	3	15275456	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	529556	15275456	182746974	889	5357										
DPH3	285381	broad.mit.edu	37	chr3	16302288	16302288	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttcagcatttaactaattCtttgttggctgaaggggctg	10	7	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:16302288C>A	ENST00000488423.1	-	3	327	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	DPH3_ENST00000285082.4_5'UTR|DPH3_ENST00000383775.4_Nonsense_Mutation_p.E53*	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN	diphthamide biosynthesis 3	78					negative regulation of protein secretion (GO:0050709)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of binding (GO:0051099)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(2)	2						TTAACTAATTCTTTGTTGGCT	0.413																																						ENST00000488423.1																			0				large_intestine(2)	2						c.(232-234)Gaa>Taa		diphthamide biosynthesis 3							105	98	101					3																	16302288		2203	4300	6503	SO:0001587	stop_gained	285381				negative regulation of protein secretion|peptidyl-diphthamide biosynthetic process from peptidyl-histidine|positive regulation of binding	cytoplasm|nucleus	metal ion binding|protein binding	g.chr3:16302288C>A	BC010181	CCDS2629.1, CCDS43058.1	3p25.1	2013-06-19	2013-06-19	2006-10-25	ENSG00000154813	ENSG00000154813			27717	protein-coding gene	gene with protein product	"DPH3A, KTI11 homolog A (S. cerevisiae)"	608959	"zinc finger, CSL-type containing 2", "DPH3 homolog (KTI11, S. cerevisiae)", "DPH3, KTI11 homolog (S. cerevisiae)"	ZCSL2		14527407, 14980502, 15485916, 16648478	Standard	NM_001047434		Approved	DESR1, DELGIP1, MGC20197, KTI11, DELGIP, DPH3A	uc003cau.3	Q96FX2	OTTHUMG00000129866	ENST00000488423.1:c.232G>T	3.37:g.16302288C>A	ENSP00000419599:p.Glu78*		Somatic				DPH3_ENST00000383775.4_Nonsense_Mutation_p.E53*|DPH3_ENST00000285082.4_5'UTR	p.E78*	NM_206831.2	NP_996662.1	WXS	Illumina GAIIx	Phase_I	Q96FX2	DPH3_HUMAN			3	327	-			78						Nonsense_Mutation	SNP	ENST00000488423.1	37	c.232G>T	CCDS2629.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122954	0.94429	.	.	ENSG00000154813	ENST00000488423;ENST00000383775	.	.	.	5.73	5.73	0.89815	.	0.053286	0.64402	D	0.000001	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.3262	16.802	0.85617	0.0:1.0:0.0:0.0	.	.	.	.	X	78;53	.	ENSP00000373285:E53X	E	-	1	0	DPH3	16277292	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.919000	0.56439	2.697000	0.92050	0.491000	0.48974	GAA		0.413	DPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252108.2	NM_206831		7	13	1	0	0.00307968	1	0.00320271	7	13					A	16302288	C	A	16302288	4	1	48	1	0	0	0	0	0	1	0	0	4723	922	32	2	20	2	DPH3	3	16302288	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1026832	16302288	181720142	890	5358										
DAZL	1618	broad.mit.edu	37	chr3	16633591	16633591	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgagtaacaacagagtttCtcagtctgttctctggatta	8	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:16633591C>A	ENST00000399444.2	-	10	1093	c.800G>T	c.(799-801)aGa>aTa	p.R267I	DAZL_ENST00000250863.8_Missense_Mutation_p.R287I	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	267					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						AACAGAGTTTCTCAGTCTGTT	0.363																																						ENST00000250863.8																		RAF1/DAZL(2)	0				endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						c.(859-861)aGa>aTa		deleted in azoospermia-like							217	220	219					3																	16633591		2203	4300	6503	SO:0001583	missense	1618				germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr3:16633591C>A	BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"RNA binding motif (RRM) containing"	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.800G>T	3.37:g.16633591C>A	ENSP00000382373:p.Arg267Ile		Somatic				DAZL_ENST00000399444.2_Missense_Mutation_p.R267I	p.R287I	NM_001190811.1	NP_001177740.1	WXS	Illumina GAIIx	Phase_I	Q92904	DAZL_HUMAN			10	1147	-			267					O15396|Q5HYB4|Q92909	Missense_Mutation	SNP	ENST00000399444.2	37	c.860G>T	CCDS43059.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226249	0.58668	.	.	ENSG00000092345	ENST00000250863;ENST00000399444	T;T	0.26067	1.76;1.78	5.19	5.19	0.71726	.	0.376195	0.27802	N	0.017784	T	0.28599	0.0708	M	0.72479	2.2	0.58432	D	0.999999	P;B	0.49358	0.923;0.384	B;B	0.36504	0.226;0.088	T	0.21075	-1.0256	10	0.44086	T	0.13	-5.6833	16.4851	0.84182	0.0:1.0:0.0:0.0	.	267;287	Q92904;Q5HYB4	DAZL_HUMAN;.	I	287;267	ENSP00000250863:R287I;ENSP00000382373:R267I	ENSP00000250863:R287I	R	-	2	0	DAZL	16608595	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.299000	0.43611	2.415000	0.81967	0.561000	0.74099	AGA		0.363	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347261.2	NM_001351		36	76	1	0	1.47197e-15	1	1.94065e-15	36	76					A	16633591	C	A	16633591	3	1	48	1	0	0	0	0	1	0	0	0	4248	913	32	2	95	2	DAZL	3	16633591	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	331303	16633591	181388839	891	5359										
PLCL2	23228	broad.mit.edu	37	chr3	17052807	17052807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagtgcttgccagcaagtacGccaatgaaaatccaggggac	11	10	0	1	rs200999126		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:17052807G>A	ENST00000418129.2	+	2	2056	c.1591G>A	c.(1591-1593)Gcc>Acc	p.A531T	PLCL2_ENST00000432376.1_Missense_Mutation_p.A531T|PLCL2_ENST00000396755.2_Missense_Mutation_p.A531T	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	657	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				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						CAGCAAGTACGCCAATGAAAA	0.403																																						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.(1591-1593)Gcc>Acc		phospholipase C-like 2							99	103	102					3																	17052807		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.chr3:17052807G>A	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1591G>A	3.37:g.17052807G>A	ENSP00000409637:p.Ala531Thr		Somatic				PLCL2_ENST00000396755.2_Missense_Mutation_p.A531T|PLCL2_ENST00000432376.1_Missense_Mutation_p.A531T	p.A531T	NM_001144382.1	NP_001137854.1	WXS	Illumina GAIIx	Phase_I	Q9UPR0	PLCL2_HUMAN			2	2056	+			657			PI-PLC X-box.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.1591G>A	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216557	0.39201	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.53423	0.62;0.62;0.62	5.63	5.63	0.86233	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	T	0.53642	0.1809	.	.	.	0.58432	D	0.999999	D	0.53619	0.961	P	0.50537	0.643	T	0.41215	-0.9521	9	0.21014	T	0.42	.	19.6959	0.96026	0.0:0.0:1.0:0.0	.	657	Q9UPR0	PLCL2_HUMAN	T	531;658;531;531	ENSP00000409637:A531T;ENSP00000379979:A531T;ENSP00000412836:A531T	ENSP00000285094:A658T	A	+	1	0	PLCL2	17027811	1.000000	0.71417	0.989000	0.46669	0.944000	0.59088	7.863000	0.87023	2.659000	0.90383	0.650000	0.86243	GCC		0.403	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			38	78	0	0	0	1	0	38	78					A	17052807	G	A	17052807	3	1	48	1	0	0	0	0	1	0	0	0	12049	1087	38	1	1969	1	PLCL2	3	17052807	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	419216	17052807	180969623	892	5360										
TBC1D5	9779	broad.mit.edu	37	chr3	17279903	17279903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattcaggggagcacctttgGcattggtcctgttaaaaaaa	10	7	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:17279903G>A	ENST00000253692.7	-	17	3004	c.1340C>T	c.(1339-1341)gCc>gTc	p.A447V	TBC1D5_ENST00000446818.2_Missense_Mutation_p.A447V|TBC1D5_ENST00000429383.4_Missense_Mutation_p.A447V|TBC1D5_ENST00000429924.2_Missense_Mutation_p.A399V|TBC1D5_ENST00000414318.2_5'UTR	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	447						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)	p.A447G(1)		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						AGCACCTTTGGCATTGGTCCT	0.383																																						ENST00000253692.7																			1	Substitution - Missense(1)	p.A447G(1)	lung(1)	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.(1339-1341)gCc>gTc		TBC1 domain family, member 5							38	39	39					3																	17279903		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17279903G>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.1340C>T	3.37:g.17279903G>A	ENSP00000253692:p.Ala447Val		Somatic				TBC1D5_ENST00000446818.2_Missense_Mutation_p.A447V|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Missense_Mutation_p.A399V|TBC1D5_ENST00000429383.4_Missense_Mutation_p.A447V	p.A447V	NM_014744.2	NP_055559.1	WXS	Illumina GAIIx	Phase_I	Q92609	TBCD5_HUMAN			17	3004	-			447					A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.1340C>T	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961707	0.53400	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.45276	1.46;1.46;1.46;0.9	5.89	5.02	0.67125	.	0.560495	0.20995	N	0.081979	T	0.36635	0.0974	L	0.47716	1.5	0.43647	D	0.996052	B;P;P;P	0.36086	0.083;0.536;0.536;0.536	B;B;B;B	0.33454	0.02;0.079;0.164;0.164	T	0.17806	-1.0357	10	0.44086	T	0.13	-3.2706	13.514	0.61530	0.0721:0.0:0.9279:0.0	.	399;447;447;447	C9J3F6;C9JP52;B9A6K1;Q92609	.;.;.;TBCD5_HUMAN	V	447;447;447;399	ENSP00000253692:A447V;ENSP00000398127:A447V;ENSP00000402935:A447V;ENSP00000411925:A399V	ENSP00000253692:A447V	A	-	2	0	TBC1D5	17254907	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.144000	0.71762	1.489000	0.48450	0.555000	0.69702	GCC		0.383	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		6	18	0	0	0	1	0	6	18					A	17279903	G	A	17279903	3	1	48	1	0	0	0	0	1	0	0	0	15638	1203	42	3	1141	3	TBC1D5	3	17279903	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	227096	17279903	180742527	893	5361										
SATB1	6304	broad.mit.edu	37	chr3	18438680	18438680	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttttgcttacccatcatatCttttgtcttcttgaaatgtt	4	8	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:18438680C>A	ENST00000338745.6	-	6	2476	c.742G>T	c.(742-744)Gat>Tat	p.D248Y	SATB1_ENST00000454909.2_Missense_Mutation_p.D248Y|SATB1_ENST00000417717.2_Missense_Mutation_p.D248Y|SATB1_ENST00000475083.1_5'Flank|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	248	Nuclear matrix targeting sequence (NMTS).				activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D248Y(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCCATCATATCTTTTGTCTTC	0.368																																						ENST00000338745.6																			1	Substitution - Missense(1)	p.D248Y(1)	large_intestine(1)	NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(742-744)Gat>Tat		SATB homeobox 1							254	212	226					3																	18438680		2202	4300	6502	SO:0001583	missense	6304				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding	g.chr3:18438680C>A		CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.742G>T	3.37:g.18438680C>A	ENSP00000341024:p.Asp248Tyr		Somatic				TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.D248Y|SATB1_ENST00000417717.2_Missense_Mutation_p.D248Y	p.D248Y	NM_002971.4	NP_002962.1	WXS	Illumina GAIIx	Phase_I	Q01826	SATB1_HUMAN			6	2476	-			248			Nuclear matrix targeting sequence (NMTS).		B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	ENST00000338745.6	37	c.742G>T	CCDS2631.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657745	0.67586	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	D;D;D	0.86956	-2.19;-2.19;-2.19	5.9	5.9	0.94986	.	0.144833	0.64402	D	0.000010	T	0.81187	0.4770	N	0.16478	0.41	0.80722	D	1	B;B	0.16166	0.016;0.003	B;B	0.15052	0.012;0.002	T	0.74788	-0.3546	10	0.59425	D	0.04	-5.7408	20.2787	0.98501	0.0:1.0:0.0:0.0	.	248;248	Q01826-2;Q01826	.;SATB1_HUMAN	Y	248	ENSP00000341024:D248Y;ENSP00000399708:D248Y;ENSP00000399518:D248Y	ENSP00000341024:D248Y	D	-	1	0	SATB1	18413684	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.798000	0.96311	0.650000	0.86243	GAT		0.368	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010		17	44	1	0	9.16793e-09	1	1.08598e-08	17	44					A	18438680	C	A	18438680	3	1	48	1	0	0	0	0	1	0	0	0	13868	913	32	2	1573	2	SATB1	3	18438680	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1158777	18438680	179583750	894	5362										
SGOL1	151648	broad.mit.edu	37	chr3	20219833	20219833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattccagaggaacatatttCctggttctgttaatgtatta	7	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:20219833C>T	ENST00000263753.4	-	4	485	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000412997.1_Missense_Mutation_p.E116K|SGOL1_ENST00000437051.1_Missense_Mutation_p.E116K|SGOL1_ENST00000412868.1_Missense_Mutation_p.E116K|SGOL1_ENST00000417364.1_Missense_Mutation_p.E116K|SGOL1_ENST00000306698.2_Missense_Mutation_p.E116K|SGOL1_ENST00000425061.1_Missense_Mutation_p.E116K|SGOL1_ENST00000421451.1_Missense_Mutation_p.E116K|SGOL1_ENST00000419233.2_Missense_Mutation_p.E116K|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000442720.1_Missense_Mutation_p.E116K|SGOL1_ENST00000443724.1_Missense_Mutation_p.E116K|SGOL1_ENST00000429446.3_Missense_Mutation_p.E116K|SGOL1_ENST00000452020.1_Missense_Mutation_p.E116K|SGOL1_ENST00000383774.1_Missense_Mutation_p.E116K	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	116	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						GAACATATTTCCTGGTTCTGT	0.313																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(346-348)Gaa>Aaa		shugoshin-like 1 (S. pombe)							91	93	93					3																	20219833		2203	4298	6501	SO:0001583	missense	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.chr3:20219833C>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.346G>A	3.37:g.20219833C>T	ENSP00000263753:p.Glu116Lys		Somatic				SGOL1_ENST00000442720.1_Missense_Mutation_p.E116K|SGOL1_ENST00000437051.1_Missense_Mutation_p.E116K|SGOL1_ENST00000452020.1_Missense_Mutation_p.E116K|SGOL1_ENST00000383774.1_Missense_Mutation_p.E116K|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000429446.3_Missense_Mutation_p.E116K|SGOL1_ENST00000417364.1_Missense_Mutation_p.E116K|SGOL1_ENST00000421451.1_Missense_Mutation_p.E116K|SGOL1_ENST00000419233.2_Missense_Mutation_p.E116K|SGOL1_ENST00000306698.2_Missense_Mutation_p.E116K|SGOL1_ENST00000425061.1_Missense_Mutation_p.E116K|SGOL1_ENST00000263753.4_Missense_Mutation_p.E116K|SGOL1_ENST00000412868.1_Missense_Mutation_p.E116K|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000443724.1_Missense_Mutation_p.E116K	p.E116K	NM_001199251.1	NP_001186180.1	WXS	Illumina GAIIx	Phase_I	Q5FBB7	SGOL1_HUMAN			4	697	-			116			Necessary for interaction with PPP2CA and PPP2R1A.		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	ENST00000263753.4	37	c.346G>A	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.571861	0.00895	.	.	ENSG00000129810	ENST00000306698;ENST00000419233;ENST00000263753;ENST00000383774;ENST00000425061;ENST00000443724;ENST00000421451;ENST00000452020;ENST00000442720;ENST00000412997;ENST00000437051;ENST00000412868;ENST00000429446;ENST00000417364	T;T;T;T;T;T;T;T;T;T	0.42900	0.96;1.53;0.96;0.96;0.96;1.53;1.55;0.98;1.55;0.98	5.84	2.68	0.31781	.	0.521095	0.20371	N	0.093651	T	0.23611	0.0571	L	0.46741	1.465	0.09310	N	1	B;P;B;B;B;P;B	0.37636	0.285;0.603;0.015;0.043;0.1;0.603;0.1	B;B;B;B;B;B;B	0.30943	0.122;0.057;0.015;0.019;0.038;0.1;0.038	T	0.21449	-1.0245	10	0.02654	T	1	-10.8936	5.496	0.16804	0.0:0.6086:0.0:0.3914	.	116;116;116;116;116;116;116	Q5FBB7-7;B5BUA4;Q5FBB7-5;Q5FBB7-4;Q5FBB7-2;Q5FBB7;Q5FBB7-3	.;.;.;.;.;SGOL1_HUMAN;.	K	116	ENSP00000394625:E116K;ENSP00000263753:E116K;ENSP00000373284:E116K;ENSP00000414960:E116K;ENSP00000413070:E116K;ENSP00000414129:E116K;ENSP00000410458:E116K;ENSP00000389034:E116K;ENSP00000406880:E116K;ENSP00000394613:E116K	ENSP00000263753:E116K	E	-	1	0	SGOL1	20194837	0.644000	0.27277	0.040000	0.18447	0.062000	0.15995	0.834000	0.27518	0.796000	0.33947	0.591000	0.81541	GAA		0.313	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		13	28	0	0	0	1	0	13	28					T	20219833	C	T	20219833	3	4	48	1	0	0	0	0	1	0	0	0	14231	864	30	3	1383	3	SGOL1	3	20219833	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1781153	20219833	177802597	895	5363										
ZNF385D	79750	broad.mit.edu	37	chr3	21552454	21552454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atttctgcttatttttcatgGcttccagtgctttgagcttc	7	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:21552454G>A	ENST00000281523.2	-	4	856	c.338C>T	c.(337-339)gCc>gTc	p.A113V	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	113						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						ATTTTTCATGGCTTCCAGTGC	0.463																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(337-339)gCc>gTc		zinc finger protein 385D							300	244	263					3																	21552454		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21552454G>A	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.338C>T	3.37:g.21552454G>A	ENSP00000281523:p.Ala113Val		Somatic				ZNF385D_ENST00000494118.1_5'UTR	p.A113V	NM_024697.2	NP_078973.1	WXS	Illumina GAIIx	Phase_I	Q9H6B1	Z385D_HUMAN			4	856	-			113						Missense_Mutation	SNP	ENST00000281523.2	37	c.338C>T	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285053	0.95517	.	.	ENSG00000151789	ENST00000281523	T	0.43688	0.94	5.56	5.56	0.83823	.	0.128110	0.52532	D	0.000069	T	0.37544	0.1007	L	0.34521	1.04	0.47621	D	0.999477	B	0.26635	0.155	B	0.23716	0.048	T	0.13764	-1.0497	10	0.51188	T	0.08	-10.09	19.5451	0.95291	0.0:0.0:1.0:0.0	.	113	Q9H6B1	Z385D_HUMAN	V	113	ENSP00000281523:A113V	ENSP00000281523:A113V	A	-	2	0	ZNF385D	21527458	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.664000	0.98607	2.617000	0.88574	0.645000	0.84053	GCC		0.463	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		31	53	0	0	0	1	0	31	53					A	21552454	G	A	21552454	3	1	48	1	0	0	0	0	1	0	0	0	17893	1203	42	3	869	3	ZNF385D	3	21552454	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1332621	21552454	176469976	896	5364										
NR1D2	9975	broad.mit.edu	37	chr3	24018775	24018775	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggaaactctcattcgtgcActaaggaccttaataatgaa	7	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:24018775A>G	ENST00000312521.4	+	8	1924	c.1605A>G	c.(1603-1605)gcA>gcG	p.A535A	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	535	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						TCATTCGTGCACTAAGGACCT	0.388																																						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.(1603-1605)gcA>gcG		nuclear receptor subfamily 1, group D, member 2							73	76	75					3																	24018775		2203	4300	6503	SO:0001819	synonymous_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.chr3:24018775A>G	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.1605A>G	3.37:g.24018775A>G			Somatic				NR1D2_ENST00000492552.1_3'UTR	p.A535A	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	WXS	Illumina GAIIx	Phase_I	Q14995	NR1D2_HUMAN			8	1924	+			535					B2R8Q3|O00402|Q86XD4	Silent	SNP	ENST00000312521.4	37	c.1605A>G	CCDS33718.1																																																																																				0.388	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			8	17	0	0	0	1	0	8	17					G	24018775	A	G	24018775	2	3	48	1	0	0	0	0	0	0	0	1	10625	146	6	4		4	NR1D2	3	24018775	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2466321	24018775	174003655	897	5365										
TOP2B	7155	broad.mit.edu	37	chr3	25661352	25661352	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acagtaaatctaataaattaCcatggaattacaagtaagag	6	5	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:25661352C>A	ENST00000264331.4	-	23	3063		c.e23+1		TOP2B_ENST00000542520.1_Splice_Site|TOP2B_ENST00000435706.2_Splice_Site	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa						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)	TAATAAATTACCATGGAATTA	0.333																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.e23+1		topoisomerase (DNA) II beta 180kDa							57	54	55					3																	25661352		1805	4064	5869	SO:0001630	splice_region_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.chr3:25661352C>A	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.3063+1G>T	3.37:g.25661352C>A			Somatic				TOP2B_ENST00000542520.1_Splice_Site|TOP2B_ENST00000264331.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q02880	TOP2B_HUMAN			23	3250	-								Q13600|Q9UMG8|Q9UQP8	Splice_Site	SNP	ENST00000264331.4	37			.	.	.	.	.	.	.	.	.	.	C	17.63	3.438112	0.62955	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6626	0.95878	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TOP2B	25636356	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.818000	0.86416	2.643000	0.89663	0.655000	0.94253	.		0.333	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			Intron	7	11	1	0	2.0095e-06	1	2.25447e-06	7	11					A	25661352	C	A	25661352	5	1	48	1	0	0	0	0	0	0	1	0	16381	521	18	5	1872	5	TOP2B	3	25661352	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1642577	25661352	172361078	898	5366										
LRRC3B	116135	broad.mit.edu	37	chr3	26751258	26751258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgtgctttcattctgccaGtatgtgtcccaagggctgtc	10	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:26751258G>A	ENST00000396641.2	+	2	687	c.95G>A	c.(94-96)aGt>aAt	p.S32N	AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000417744.1_Missense_Mutation_p.S32N|LRRC3B_ENST00000456208.2_Missense_Mutation_p.S32N	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	32						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CATTCTGCCAGTATGTGTCCC	0.448																																						ENST00000396641.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						c.(94-96)aGt>aAt		leucine rich repeat containing 3B							193	179	184					3																	26751258		2203	4300	6503	SO:0001583	missense	116135					integral to membrane		g.chr3:26751258G>A	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.95G>A	3.37:g.26751258G>A	ENSP00000379880:p.Ser32Asn		Somatic				LRRC3B_ENST00000417744.1_Missense_Mutation_p.S32N|LRRC3B_ENST00000456208.2_Missense_Mutation_p.S32N	p.S32N	NM_052953.2	NP_443185.1	WXS	Illumina GAIIx	Phase_I	Q96PB8	LRC3B_HUMAN			2	687	+			32					Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	c.95G>A	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392195	0.62066	.	.	ENSG00000179796	ENST00000396641;ENST00000414619;ENST00000432040;ENST00000417744;ENST00000456208	T;T;T;T	0.61859	0.19;0.07;0.19;0.19	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	N	0.19112	0.55	0.80722	D	1	D	0.54047	0.964	B	0.40677	0.337	T	0.32587	-0.9901	10	0.23302	T	0.38	-21.5051	19.8676	0.96824	0.0:0.0:1.0:0.0	.	32	Q96PB8	LRC3B_HUMAN	N	32	ENSP00000379880:S32N;ENSP00000398184:S32N;ENSP00000406370:S32N;ENSP00000394940:S32N	ENSP00000379880:S32N	S	+	2	0	LRRC3B	26726262	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.409000	0.73289	2.941000	0.99782	0.655000	0.94253	AGT		0.448	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		32	34	0	0	0	1	0	32	34					A	26751258	G	A	26751258	3	1	48	1	0	0	0	0	1	0	0	0	9005	1029	36	3	97	3	LRRC3B	3	26751258	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1089906	26751258	171271172	899	5367										
EOMES	8320	broad.mit.edu	37	chr3	27760902	27760902	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggtgagttttaatttcccGaatgaaatctcctgtctcat	7	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:27760902G>A	ENST00000295743.4	-	3	1310	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Silent_p.F369F|EOMES_ENST00000537516.1_Silent_p.F74F			O95936	EOMES_HUMAN	eomesodermin	369					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						TTAATTTCCCGAATGAAATCT	0.418																																						ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(1105-1107)ttC>ttT		eomesodermin							222	204	210					3																	27760902		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.chr3:27760902G>A	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1107C>T	3.37:g.27760902G>A			Somatic				EOMES_ENST00000449599.1_Silent_p.F369F|EOMES_ENST00000537516.1_Silent_p.F74F|EOMES_ENST00000461503.1_5'UTR	p.F369F			WXS	Illumina GAIIx	Phase_I	O95936	EOMES_HUMAN			3	1310	-			369					B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Silent	SNP	ENST00000295743.4	37	c.1107C>T	CCDS2646.1																																																																																				0.418	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		38	75	0	0	0	1	0	38	75					A	27760902	G	A	27760902	2	1	48	1	0	0	0	0	0	0	0	1	5149	1049	37	1		1	EOMES	3	27760902	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1009644	27760902	170261528	900	5368										
RBMS3	27303	broad.mit.edu	37	chr3	30032685	30032685	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgaacatgcacctgcatattCttaccaacagtctaagtaag	6	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:30032685C>A	ENST00000383767.2	+	14	1628	c.1292C>A	c.(1291-1293)tCt>tAt	p.S431Y	RBMS3_ENST00000383766.2_Missense_Mutation_p.S413Y|RBMS3_ENST00000396583.3_Missense_Mutation_p.S428Y|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000273139.9_Missense_Mutation_p.S415Y|RBMS3_ENST00000456853.1_Missense_Mutation_p.S428Y|RBMS3_ENST00000452462.1_Missense_Mutation_p.S415Y|RBMS3_ENST00000434693.2_Missense_Mutation_p.S430Y			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	431					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CCTGCATATTCTTACCAACAG	0.478																																						ENST00000434693.2																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11						c.(1288-1290)tCt>tAt		RNA binding motif, single stranded interacting protein 3							234	168	190					3																	30032685		2203	4300	6503	SO:0001583	missense	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:30032685C>A	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"RNA binding motif (RRM) containing"	13427	protein-coding gene	gene with protein product	"RNA-binding protein"	605786	"RNA binding motif, single stranded interacting protein"			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.1292C>A	3.37:g.30032685C>A	ENSP00000373277:p.Ser431Tyr		Somatic				RBMS3_ENST00000396583.3_Missense_Mutation_p.S428Y|RBMS3_ENST00000273139.9_Missense_Mutation_p.S415Y|RBMS3_ENST00000452462.1_Missense_Mutation_p.S415Y|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000456853.1_Missense_Mutation_p.S428Y|RBMS3_ENST00000383766.2_Missense_Mutation_p.S413Y|RBMS3_ENST00000383767.2_Missense_Mutation_p.S431Y	p.S430Y	NM_001003793.2	NP_001003793.1	WXS	Illumina GAIIx	Phase_I	Q6XE24	RBMS3_HUMAN			14	1989	+		Ovarian(412;0.0956)	431					A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	c.1289C>A	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933105	0.92458	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T	0.34275	1.38;1.38;1.39;1.39;1.45;1.37;1.39	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.58652	0.2137	L	0.61218	1.895	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.989	D;D;D;P	0.72075	0.926;0.976;0.956;0.905	T	0.56220	-0.8015	9	.	.	.	.	18.9853	0.92767	0.0:1.0:0.0:0.0	.	415;428;413;431	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	Y	430;428;431;415;413;415;428	ENSP00000395592:S430Y;ENSP00000379828:S428Y;ENSP00000373277:S431Y;ENSP00000273139:S415Y;ENSP00000373276:S413Y;ENSP00000397926:S415Y;ENSP00000400519:S428Y	.	S	+	2	0	RBMS3	30007689	1.000000	0.71417	0.972000	0.41901	0.994000	0.84299	7.076000	0.76806	2.469000	0.83416	0.655000	0.94253	TCT		0.478	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792		4	73	1	0	2.56e-06	1	2.86294e-06	4	73					A	30032685	C	A	30032685	3	1	48	1	0	0	0	0	1	0	0	0	13165	913	32	2	1389	2	RBMS3	3	30032685	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2271783	30032685	167989745	901	5369										
GADL1	339896	broad.mit.edu	37	chr3	30885949	30885949	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaggctgccttcttcatagAgtaatgacactgaattcaaa	8	8	3	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:30885949A>C	ENST00000282538.5	-	7	811	c.661T>G	c.(661-663)Tct>Gct	p.S221A	GADL1_ENST00000454381.3_Missense_Mutation_p.S221A	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	221					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						TTCTTCATAGAGTAATGACAC	0.428																																						ENST00000454381.3																			0				breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						c.(661-663)Tct>Gct		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						127	127	127					3																	30885949		2203	4300	6503	SO:0001583	missense	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30885949A>C	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.661T>G	3.37:g.30885949A>C	ENSP00000282538:p.Ser221Ala		Somatic				GADL1_ENST00000282538.5_Missense_Mutation_p.S221A	p.S221A			WXS	Illumina GAIIx	Phase_I	Q6ZQY3	GADL1_HUMAN			7	707	-			221						Missense_Mutation	SNP	ENST00000282538.5	37	c.661T>G	CCDS2649.2	.	.	.	.	.	.	.	.	.	.	A	26.4	4.731307	0.89390	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	T;T	0.45276	0.9;0.9	5.95	5.95	0.96441	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.93420	3.415	0.47547	D	0.999458	D	0.64830	0.994	D	0.77557	0.99	T	0.81448	-0.0928	10	0.87932	D	0	-24.2692	16.4323	0.83853	1.0:0.0:0.0:0.0	.	221	Q6ZQY3	GADL1_HUMAN	A	221	ENSP00000282538:S221A;ENSP00000427059:S221A	ENSP00000282538:S221A	S	-	1	0	GADL1	30860953	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.669000	0.91163	2.281000	0.76405	0.528000	0.53228	TCT		0.428	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		41	64	0	0	0	1	0	41	64					C	30885949	A	C	30885949	3	2	48	1	0	0	0	0	1	0	0	0	6193	304	11	4	940	4	GADL1	3	30885949	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	853264	30885949	167136481	902	5370										
ZNF860	344787	broad.mit.edu	37	chr3	32031204	32031204	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aataactatgaaaataatttCttccattcatcattactcac	1	9	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:32031204C>A	ENST00000360311.4	+	2	1182	c.633C>A	c.(631-633)ttC>ttA	p.F211L		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	211					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						AAAATAATTTCTTCCATTCAT	0.343																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(631-633)ttC>ttA		zinc finger protein 860							42	32	35					3																	32031204		692	1588	2280	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031204C>A	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.633C>A	3.37:g.32031204C>A	ENSP00000373274:p.Phe211Leu		Somatic					p.F211L	NM_001137674.2	NP_001131146.2	WXS	Illumina GAIIx	Phase_I	A6NHJ4	ZN860_HUMAN			2	1182	+			211					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.633C>A	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	C	8.085	0.773153	0.16051	.	.	ENSG00000197385	ENST00000360311	T	0.38722	1.12	0.345	-0.691	0.11305	.	.	.	.	.	T	0.42063	0.1186	M	0.87758	2.905	0.09310	N	1	B	0.23185	0.081	B	0.20384	0.029	T	0.41502	-0.9505	8	.	.	.	.	3.7672	0.08627	0.0:0.3509:0.0:0.6491	.	211	A6NHJ4	ZN860_HUMAN	L	211	ENSP00000373274:F211L	.	F	+	3	2	ZNF860	32006208	0.011000	0.17503	0.002000	0.10522	0.002000	0.02628	-0.492000	0.06467	-0.519000	0.06444	-0.515000	0.04445	TTC		0.343	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			29	51	1	0	7.41945e-09	1	8.8016e-09	29	51					A	32031204	C	A	32031204	3	1	48	1	0	0	0	0	1	0	0	0	18209	912	32	2	635	2	ZNF860	3	32031204	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1145255	32031204	165991226	903	5371										
DCLK3	85443	broad.mit.edu	37	chr3	36779844	36779844	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggggggcttgctactgggttCtggctcccatttccccctcc	12	15	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36779844C>A	ENST00000416516.2	-	2	797	c.307G>T	c.(307-309)Gaa>Taa	p.E103*		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	103						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						CTACTGGGTTCTGGCTCCCAT	0.582																																						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.(307-309)Gaa>Taa		doublecortin-like kinase 3							117	123	121					3																	36779844		1900	4098	5998	SO:0001587	stop_gained	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779844C>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.307G>T	3.37:g.36779844C>A	ENSP00000394484:p.Glu103*		Somatic					p.E103*	NM_033403.1	NP_208382.1	WXS	Illumina GAIIx	Phase_I	Q9C098	DCLK3_HUMAN			2	797	-			103						Nonsense_Mutation	SNP	ENST00000416516.2	37	c.307G>T	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	36	5.804392	0.96967	.	.	ENSG00000163673	ENST00000416516	.	.	.	4.7	4.7	0.59300	.	0.000000	0.33670	N	0.004677	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6609	0.88193	0.0:1.0:0.0:0.0	.	.	.	.	X	103	.	ENSP00000394484:E103X	E	-	1	0	DCLK3	36754848	0.935000	0.31712	0.082000	0.20525	0.081000	0.17604	3.415000	0.52700	2.339000	0.79563	0.655000	0.94253	GAA		0.582	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		60	123	1	0	1.13205e-32	1	1.62219e-32	60	123					A	36779844	C	A	36779844	4	1	48	1	0	0	0	0	0	1	0	0	4295	922	32	2	1655	2	DCLK3	3	36779844	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4748640	36779844	161242586	904	5372										
TRANK1	9881	broad.mit.edu	37	chr3	36873394	36873394	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagcacagcaccagtgtccgCtcagcctcacccgagaccac	8	18	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36873394C>T	ENST00000429976.2	-	21	7795	c.7548G>A	c.(7546-7548)gaG>gaA	p.E2516E	TRANK1_ENST00000301807.6_Silent_p.E1966E|TRANK1_ENST00000428977.2_Silent_p.E1966E	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2516							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						CCAGTGTCCGCTCAGCCTCAC	0.527																																						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.(7546-7548)gaG>gaA		tetratricopeptide repeat and ankyrin repeat containing 1							116	118	118					3																	36873394		2173	4277	6450	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36873394C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7548G>A	3.37:g.36873394C>T			Somatic				TRANK1_ENST00000428977.2_Silent_p.E1966E|TRANK1_ENST00000301807.6_Silent_p.E1966E	p.E2516E			WXS	Illumina GAIIx	Phase_I	O15050	TRNK1_HUMAN			21	7795	-			2516					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.7548G>A	CCDS46789.2																																																																																				0.527	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		42	98	0	0	0	1	0	42	98					T	36873394	C	T	36873394	2	4	48	1	0	0	0	0	0	0	0	1	16469	796	28	3		3	TRANK1	3	36873394	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	93550	36873394	161149036	905	5373										
TRANK1	9881	broad.mit.edu	37	chr3	36874612	36874612	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcattatcaaaaaatgatcTtttgtttttttctctctcaa	3	7	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36874612T>G	ENST00000429976.2	-	21	6577	c.6330A>C	c.(6328-6330)aaA>aaC	p.K2110N	TRANK1_ENST00000301807.6_Missense_Mutation_p.K1560N|TRANK1_ENST00000428977.2_Missense_Mutation_p.K1560N	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2110							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						AAAAATGATCTTTTGTTTTTT	0.418																																						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.(6328-6330)aaA>aaC		tetratricopeptide repeat and ankyrin repeat containing 1							72	65	67					3																	36874612		1832	4091	5923	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36874612T>G	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6330A>C	3.37:g.36874612T>G	ENSP00000416168:p.Lys2110Asn		Somatic				TRANK1_ENST00000428977.2_Missense_Mutation_p.K1560N|TRANK1_ENST00000301807.6_Missense_Mutation_p.K1560N	p.K2110N			WXS	Illumina GAIIx	Phase_I	O15050	TRNK1_HUMAN			21	6577	-			2110					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.6330A>C	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	7.185	0.590341	0.13812	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.36699	1.24;1.67;1.24	4.49	2.03	0.26663	.	0.000000	0.53938	D	0.000043	T	0.21921	0.0528	L	0.32530	0.975	0.30552	N	0.765398	B	0.06786	0.001	B	0.06405	0.002	T	0.10337	-1.0634	10	0.49607	T	0.09	.	3.0041	0.06023	0.1408:0.0812:0.1463:0.6317	.	2110	O15050	TRNK1_HUMAN	N	1560;2110;1560	ENSP00000416826:K1560N;ENSP00000416168:K2110N;ENSP00000301807:K1560N	ENSP00000301807:K1560N	K	-	3	2	TRANK1	36849616	1.000000	0.71417	0.910000	0.35882	0.593000	0.36681	1.067000	0.30616	0.332000	0.23536	0.369000	0.22263	AAA		0.418	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		4	8	0	0	0	1	0	4	8					G	36874612	T	G	36874612	3	3	48	1	0	0	0	0	1	0	0	0	16469	1606	56	4	2459	4	TRANK1	3	36874612	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1218	36874612	161147818	906	5374										
TRANK1	9881	broad.mit.edu	37	chr3	36875328	36875328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atttgcactcagatactttgCtgcagcttccaagtaaaact	6	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36875328C>T	ENST00000429976.2	-	21	5861	c.5614G>A	c.(5614-5616)Gca>Aca	p.A1872T	TRANK1_ENST00000301807.6_Missense_Mutation_p.A1322T|TRANK1_ENST00000428977.2_Missense_Mutation_p.A1322T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1872							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						AGATACTTTGCTGCAGCTTCC	0.433																																						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.(5614-5616)Gca>Aca		tetratricopeptide repeat and ankyrin repeat containing 1							106	101	102					3																	36875328		1883	4107	5990	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36875328C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5614G>A	3.37:g.36875328C>T	ENSP00000416168:p.Ala1872Thr		Somatic				TRANK1_ENST00000428977.2_Missense_Mutation_p.A1322T|TRANK1_ENST00000301807.6_Missense_Mutation_p.A1322T	p.A1872T			WXS	Illumina GAIIx	Phase_I	O15050	TRNK1_HUMAN			21	5861	-			1872					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.5614G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825373	0.71143	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.35048	1.33;1.74;1.33	5.27	5.27	0.74061	.	0.000000	0.56097	D	0.000032	T	0.49474	0.1559	L	0.32530	0.975	0.50313	D	0.999868	D	0.89917	1.0	D	0.80764	0.994	T	0.26538	-1.0100	10	0.21540	T	0.41	.	19.2867	0.94077	0.0:1.0:0.0:0.0	.	1872	O15050	TRNK1_HUMAN	T	1322;1872;1322	ENSP00000416826:A1322T;ENSP00000416168:A1872T;ENSP00000301807:A1322T	ENSP00000301807:A1322T	A	-	1	0	TRANK1	36850332	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.987000	0.56944	2.638000	0.89438	0.549000	0.68633	GCA		0.433	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		33	65	0	0	0	1	0	33	65					T	36875328	C	T	36875328	3	4	48	1	0	0	0	0	1	0	0	0	16469	797	28	3	3175	3	TRANK1	3	36875328	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	716	36875328	161147102	907	5375										
TRANK1	9881	broad.mit.edu	37	chr3	36897168	36897168	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttagaaaagattttatttCtttccaaatcagtgcagggt	7	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36897168C>A	ENST00000429976.2	-	12	4160	c.3913G>T	c.(3913-3915)Gaa>Taa	p.E1305*	TRANK1_ENST00000301807.6_Nonsense_Mutation_p.E755*|TRANK1_ENST00000428977.2_Nonsense_Mutation_p.E755*	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1305							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						GATTTTATTTCTTTCCAAATC	0.458																																						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.(3913-3915)Gaa>Taa		tetratricopeptide repeat and ankyrin repeat containing 1							135	131	132					3																	36897168		1843	4097	5940	SO:0001587	stop_gained	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897168C>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.3913G>T	3.37:g.36897168C>A	ENSP00000416168:p.Glu1305*		Somatic				TRANK1_ENST00000428977.2_Nonsense_Mutation_p.E755*|TRANK1_ENST00000301807.6_Nonsense_Mutation_p.E755*	p.E1305*			WXS	Illumina GAIIx	Phase_I	O15050	TRNK1_HUMAN			12	4160	-			1305					Q8N8K0	Nonsense_Mutation	SNP	ENST00000429976.2	37	c.3913G>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	42	9.324343	0.99137	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	.	.	.	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.6889	0.95989	0.0:1.0:0.0:0.0	.	.	.	.	X	755;1305;755	.	ENSP00000301807:E755X	E	-	1	0	TRANK1	36872172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.025000	0.70864	2.735000	0.93741	0.561000	0.74099	GAA		0.458	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		16	114	1	0	2.23348e-06	1	2.50077e-06	16	114					A	36897168	C	A	36897168	4	1	48	1	0	0	0	0	0	1	0	0	16469	922	32	2	4912	2	TRANK1	3	36897168	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	21840	36897168	161125262	908	5376										
TRANK1	9881	broad.mit.edu	37	chr3	36897903	36897903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggccagcaatgggcttcctgCctgctcagctttttcccagt	10	14	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36897903C>T	ENST00000429976.2	-	12	3425	c.3178G>A	c.(3178-3180)Gca>Aca	p.A1060T	TRANK1_ENST00000301807.6_Missense_Mutation_p.A510T|TRANK1_ENST00000428977.2_Missense_Mutation_p.A510T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1060							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						GGGCTTCCTGCCTGCTCAGCT	0.527																																						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.(3178-3180)Gca>Aca		tetratricopeptide repeat and ankyrin repeat containing 1							30	31	31					3																	36897903		1927	4139	6066	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897903C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3178G>A	3.37:g.36897903C>T	ENSP00000416168:p.Ala1060Thr		Somatic				TRANK1_ENST00000428977.2_Missense_Mutation_p.A510T|TRANK1_ENST00000301807.6_Missense_Mutation_p.A510T	p.A1060T			WXS	Illumina GAIIx	Phase_I	O15050	TRNK1_HUMAN			12	3425	-			1060					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.3178G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941510	0.34283	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.82255	-1.59;-1.59;-1.59	5.31	4.42	0.53409	.	0.106736	0.41097	D	0.000959	T	0.79587	0.4471	M	0.66939	2.045	0.39687	D	0.970986	P	0.35745	0.518	B	0.37650	0.255	T	0.75563	-0.3274	10	0.22706	T	0.39	.	8.9545	0.35809	0.1494:0.7764:0.0:0.0742	.	1060	O15050	TRNK1_HUMAN	T	510;1060;510	ENSP00000416826:A510T;ENSP00000416168:A1060T;ENSP00000301807:A510T	ENSP00000301807:A510T	A	-	1	0	TRANK1	36872907	0.992000	0.36948	1.000000	0.80357	0.912000	0.54170	2.499000	0.45372	1.346000	0.45694	0.561000	0.74099	GCA		0.527	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		14	25	0	0	0	1	0	14	25					T	36897903	C	T	36897903	3	4	48	1	0	0	0	0	1	0	0	0	16469	739	26	3	5647	3	TRANK1	3	36897903	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	735	36897903	161124527	909	5377										
EPM2AIP1	9852	broad.mit.edu	37	chr3	37033157	37033157	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtccttaaaatgtctctcaAattctttttggagacgacag	8	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37033157A>C	ENST00000322716.5	-	1	1638	c.1412T>G	c.(1411-1413)tTt>tGt	p.F471C	MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000536378.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	471					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						ATGTCTCTCAAATTCTTTTTG	0.328																																						ENST00000322716.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						c.(1411-1413)tTt>tGt		EPM2A (laforin) interacting protein 1							31	31	31					3																	37033157		1805	4066	5871	SO:0001583	missense	9852					endoplasmic reticulum		g.chr3:37033157A>C	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.1412T>G	3.37:g.37033157A>C	ENSP00000406027:p.Phe471Cys		Somatic					p.F471C	NM_014805.3	NP_055620.1	WXS	Illumina GAIIx	Phase_I	Q7L775	EPMIP_HUMAN			1	1638	-			471					O94866|Q9H3L3	Missense_Mutation	SNP	ENST00000322716.5	37	c.1412T>G	CCDS46790.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.421993	0.62622	.	.	ENSG00000178567	ENST00000322716	T	0.29397	1.57	4.71	4.71	0.59529	.	.	.	.	.	T	0.53498	0.1800	M	0.75615	2.305	0.39058	D	0.960468	D	0.89917	1.0	D	0.76071	0.987	T	0.59910	-0.7365	9	0.56958	D	0.05	-17.5086	12.1599	0.54098	1.0:0.0:0.0:0.0	.	471	Q7L775	EPMIP_HUMAN	C	471	ENSP00000406027:F471C	ENSP00000406027:F471C	F	-	2	0	EPM2AIP1	37008161	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.936000	0.75892	1.959000	0.56917	0.533000	0.62120	TTT		0.328	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805		8	14	0	0	0	1	0	8	14					C	37033157	A	C	37033157	3	2	48	1	0	0	0	0	1	0	0	0	5186	14	1	4	415	4	EPM2AIP1	3	37033157	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	135254	37033157	160989273	910	5378										
LRRFIP2	9209	broad.mit.edu	37	chr3	37107798	37107798	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctaaggcaggcaatgtattCtttctgtttctctagggcct	9	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37107798C>A	ENST00000336686.4	-	22	1563	c.1483G>T	c.(1483-1485)Gaa>Taa	p.E495*	LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000421307.1_Nonsense_Mutation_p.E495*			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	495					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	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						GCAATGTATTCTTTCTGTTTC	0.468																																						ENST00000421307.1																			1	Whole gene deletion(1)	p.0?(1)	ovary(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.(1483-1485)Gaa>Taa		leucine rich repeat (in FLII) interacting protein 2							179	164	169					3																	37107798		2203	4300	6503	SO:0001587	stop_gained	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37107798C>A	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.1483G>T	3.37:g.37107798C>A	ENSP00000338727:p.Glu495*		Somatic				LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000336686.4_Nonsense_Mutation_p.E495*|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000440230.1_Intron	p.E495*	NM_006309.2	NP_006300.1	WXS	Illumina GAIIx	Phase_I	Q9Y608	LRRF2_HUMAN			23	1905	-			495					A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Nonsense_Mutation	SNP	ENST00000336686.4	37	c.1483G>T	CCDS2664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.344318|5.344318	0.95807|0.95807	.|.	.|.	ENSG00000093167|ENSG00000093167	ENST00000421307;ENST00000336686|ENST00000440742	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.100439|.	0.64402|.	D|.	0.000002|.	.|T	.|0.81302	.|0.4794	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78306	.|-0.2255	.|3	0.38643|.	T|.	0.18|.	-8.1776|-8.1776	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	495|76	.|.	ENSP00000338727:E495X|.	E|R	-|-	1|2	0|0	LRRFIP2|LRRFIP2	37082802|37082802	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.336000|7.336000	0.79245|0.79245	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.468	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		28	43	1	0	3.90053e-15	1	5.12206e-15	28	43					A	37107798	C	A	37107798	4	1	48	1	0	0	0	0	0	1	0	0	9037	922	32	2	710	2	LRRFIP2	3	37107798	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	74641	37107798	160914632	911	5379										
GOLGA4	2803	broad.mit.edu	37	chr3	37285051	37285051	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacgctgcgccatgttcaagAaactgaagcaaaagatcagc	9	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37285051A>G	ENST00000361924.2	+	1	384	c.10A>G	c.(10-12)Aaa>Gaa	p.K4E	GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Missense_Mutation_p.K4E|GOLGA4_ENST00000444882.1_Missense_Mutation_p.K4E|RP11-259K5.2_ENST00000604992.1_RNA	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	4					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						CATGTTCAAGAAACTGAAGCA	0.617																																						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.(10-12)Aaa>Gaa		golgin A4							41	42	42					3																	37285051		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37285051A>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.10A>G	3.37:g.37285051A>G	ENSP00000354486:p.Lys4Glu		Somatic				GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000444882.1_Missense_Mutation_p.K4E|GOLGA4_ENST00000356847.4_Missense_Mutation_p.K4E|RP11-259K5.2_ENST00000604992.1_RNA	p.K4E	NM_002078.4	NP_002069.2	WXS	Illumina GAIIx	Phase_I	Q13439	GOGA4_HUMAN			1	384	+			4					F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.10A>G	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823449	0.71143	.	.	ENSG00000144674	ENST00000361924;ENST00000444882;ENST00000356847;ENST00000450863;ENST00000429018;ENST00000431105	T;T	0.38077	1.16;1.25	4.47	4.47	0.54385	.	.	.	.	.	T	0.49695	0.1572	L	0.43152	1.355	0.32552	N	0.532212	D;D;D;D	0.67145	0.996;0.996;0.993;0.996	D;D;D;D	0.75484	0.981;0.986;0.968;0.981	T	0.60326	-0.7285	9	0.87932	D	0	.	10.4074	0.44272	1.0:0.0:0.0:0.0	.	4;4;4;4	Q86W71;F8W8Q7;Q13439;E7EVX2	.;.;GOGA4_HUMAN;.	E	4	ENSP00000354486:K4E;ENSP00000349305:K4E	ENSP00000349305:K4E	K	+	1	0	GOLGA4	37260055	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.310000	0.59141	1.760000	0.52011	0.377000	0.23210	AAA		0.617	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		21	45	0	0	0	1	0	21	45					G	37285051	A	G	37285051	3	3	48	1	0	0	0	0	1	0	0	0	6563	247	9	4	12	4	GOLGA4	3	37285051	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	177253	37285051	160737379	912	5380										
GOLGA4	2803	broad.mit.edu	37	chr3	37365881	37365881	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttggatttggaaacagaaaGaattcttcttaccaaacagg	9	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37365881G>T	ENST00000361924.2	+	14	2878	c.2504G>T	c.(2503-2505)aGa>aTa	p.R835I	GOLGA4_ENST00000356847.4_Missense_Mutation_p.R857I|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	835	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						GAAACAGAAAGAATTCTTCTT	0.413																																						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.(2503-2505)aGa>aTa		golgin A4							114	126	122					3																	37365881		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37365881G>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.2504G>T	3.37:g.37365881G>T	ENSP00000354486:p.Arg835Ile		Somatic				GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R857I	p.R835I	NM_002078.4	NP_002069.2	WXS	Illumina GAIIx	Phase_I	Q13439	GOGA4_HUMAN			14	2878	+			835			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.2504G>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119798	0.56613	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000429018;ENST00000437131	T;T;T;T	0.24538	1.89;1.85;2.4;1.88	5.49	-0.144	0.13440	.	0.346769	0.18723	N	0.132947	T	0.24314	0.0589	L	0.53249	1.67	0.24235	N	0.995383	P;P;P;P	0.48503	0.911;0.911;0.911;0.883	P;P;P;B	0.44990	0.466;0.466;0.466;0.26	T	0.18524	-1.0334	10	0.27082	T	0.32	.	9.916	0.41434	0.7416:0.0:0.2584:0.0	.	835;835;857;835	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	I	835;857;396;706	ENSP00000354486:R835I;ENSP00000349305:R857I;ENSP00000403009:R396I;ENSP00000405842:R706I	ENSP00000349305:R857I	R	+	2	0	GOLGA4	37340885	0.860000	0.29831	0.195000	0.23364	0.995000	0.86356	0.623000	0.24447	0.055000	0.16094	0.655000	0.94253	AGA		0.413	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		34	83	1	0	1.62565e-12	1	2.05093e-12	34	83					T	37365881	G	T	37365881	3	4	48	1	0	0	0	0	1	0	0	0	6563	942	33	2	2628	2	GOLGA4	3	37365881	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	80830	37365881	160656549	913	5381										
GOLGA4	2803	broad.mit.edu	37	chr3	37368058	37368058	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaaggatattgaacacaaaGaattggttcagaaacttcaa	7	5	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37368058G>T	ENST00000361924.2	+	14	5055	c.4681G>T	c.(4681-4683)Gaa>Taa	p.E1561*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E1583*|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1561	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)	p.E1561*(2)		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						TGAACACAAAGAATTGGTTCA	0.308																																						ENST00000361924.2																			2	Substitution - Nonsense(2)	p.E1561*(2)	large_intestine(2)	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.(4681-4683)Gaa>Taa		golgin A4							69	80	76					3																	37368058		2198	4295	6493	SO:0001587	stop_gained	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37368058G>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.4681G>T	3.37:g.37368058G>T	ENSP00000354486:p.Glu1561*		Somatic				GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E1583*	p.E1561*	NM_002078.4	NP_002069.2	WXS	Illumina GAIIx	Phase_I	Q13439	GOGA4_HUMAN			14	5055	+			1561			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	ENST00000361924.2	37	c.4681G>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	44	11.128092	0.99519	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	.	.	.	4.46	4.46	0.54185	.	0.214996	0.23594	N	0.046501	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	18.0125	0.89229	0.0:0.0:1.0:0.0	.	.	.	.	X	1561;1583;1432	.	ENSP00000349305:E1583X	E	+	1	0	GOLGA4	37343062	1.000000	0.71417	0.321000	0.25320	0.910000	0.53928	6.029000	0.70895	2.417000	0.82017	0.462000	0.41574	GAA		0.308	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		37	63	1	0	2.75727e-19	1	3.7504e-19	37	63					T	37368058	G	T	37368058	4	4	48	1	0	0	0	0	0	1	0	0	6563	943	33	2	4805	2	GOLGA4	3	37368058	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2177	37368058	160654372	914	5382										
C3orf35	339883	broad.mit.edu	37	chr3	37458846	37458846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaagaggttattgtgcgcccGaacttttcacacaagaattg	9	8	1	2	rs193097162	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37458846G>A	ENST00000328376.5	+	5	1068	c.89G>A	c.(88-90)cGa>cAa	p.R30Q	C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000452017.2_Missense_Mutation_p.R30Q|C3orf35_ENST00000425564.2_Missense_Mutation_p.R30Q|C3orf35_ENST00000426078.1_Missense_Mutation_p.R30Q|C3orf35_ENST00000425932.1_Missense_Mutation_p.R30Q	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	30						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTGTGCGCCCGAACTTTTCAC	0.433													G|||	4	0.000798722	0.0015	0	5008	,	,		18668	0.001		0	False		,,,				2504	0.001					ENST00000328376.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(88-90)cGa>cAa		chromosome 3 open reading frame 35		G	GLN/ARG,GLN/ARG	1,3671		0,1,1835	111	105	107		89,89	-6.6	0	3		107	3,8163		0,3,4080	yes	missense,missense	C3orf35	NM_178339.2,NM_178342.2	43,43	0,4,5915	AA,AG,GG		0.0367,0.0272,0.0338	probably-damaging,probably-damaging	30/171,30/120	37458846	4,11834	1836	4083	5919	SO:0001583	missense	339883					integral to membrane		g.chr3:37458846G>A	AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"AP20 region protein", "APRG1 tumor suppressor candidate"	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.89G>A	3.37:g.37458846G>A	ENSP00000331625:p.Arg30Gln		Somatic				C3orf35_ENST00000426078.1_Missense_Mutation_p.R30Q|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000425932.1_Missense_Mutation_p.R30Q|C3orf35_ENST00000425564.2_Missense_Mutation_p.R30Q|C3orf35_ENST00000452017.2_Missense_Mutation_p.R30Q	p.R30Q	NM_178339.2	NP_848029.2	WXS	Illumina GAIIx	Phase_I	Q8IVJ8	APRG1_HUMAN			5	1068	+			30					B7ZMA0|Q8IVJ5|Q8IVJ9	Missense_Mutation	SNP	ENST00000328376.5	37	c.89G>A	CCDS43065.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	7.692	0.691247	0.15039	2.72E-4	3.67E-4	ENSG00000198590	ENST00000425932;ENST00000328376;ENST00000452017;ENST00000426078;ENST00000425564	T	0.55413	0.52	4.24	-6.63	0.01807	.	.	.	.	.	T	0.26629	0.0651	N	0.08118	0	0.09310	N	1	B;B	0.19706	0.038;0.017	B;B	0.10450	0.005;0.003	T	0.28650	-1.0037	9	0.87932	D	0	.	7.6808	0.28513	0.4534:0.3754:0.1712:0.0	.	30;30	Q8IVJ8-3;Q8IVJ8	.;APRG1_HUMAN	Q	30	ENSP00000331625:R30Q	ENSP00000331625:R30Q	R	+	2	0	C3orf35	37433850	0.011000	0.17503	0.000000	0.03702	0.100000	0.18952	-0.493000	0.06459	-1.614000	0.01575	-0.251000	0.11542	CGA		0.433	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342344.2	NM_178338		42	88	0	0	0	1	0	42	88					A	37458846	G	A	37458846	3	1	48	1	0	0	0	0	1	0	0	0	2227	1058	37	1	91	1	C3orf35	3	37458846	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	90788	37458846	160563584	915	5383										
ITGA9	3680	broad.mit.edu	37	chr3	37821468	37821468	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgctaaagaagaaagtcgtActatagacatttacatgctg	8	6	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37821468A>G	ENST00000264741.5	+	25	2999	c.2743A>G	c.(2743-2745)Act>Gct	p.T915A	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	915					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)		AGAAAGTCGTACTATAGACAT	0.373																																						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.(2743-2745)Act>Gct		integrin, alpha 9							114	114	114					3																	37821468		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37821468A>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.2743A>G	3.37:g.37821468A>G	ENSP00000264741:p.Thr915Ala		Somatic				AC093415.2_ENST00000438136.1_RNA	p.T915A	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)	25	2999	+			915					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.2743A>G	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.778254	0.31502	.	.	ENSG00000144668	ENST00000264741	T	0.48836	0.8	5.91	0.412	0.16397	.	0.321128	0.37136	N	0.002228	T	0.19846	0.0477	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.08066	-1.0740	10	0.26408	T	0.33	.	2.7221	0.05204	0.62:0.1239:0.1369:0.1192	.	915	Q13797	ITA9_HUMAN	A	915	ENSP00000264741:T915A	ENSP00000264741:T915A	T	+	1	0	ITGA9	37796472	0.888000	0.30383	0.009000	0.14445	0.998000	0.95712	3.373000	0.52394	0.114000	0.18032	0.533000	0.62120	ACT		0.373	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		25	48	0	0	0	1	0	25	48					G	37821468	A	G	37821468	3	3	48	1	0	0	0	0	1	0	0	0	7892	391	14	4	2841	4	ITGA9	3	37821468	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	362622	37821468	160200962	916	5384										
DLEC1	30	broad.mit.edu	37	chr3	38163210	38163210	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgctttgtgagccagcagcGagtccgggaggtctacctga	14	11	1	2	rs573428697		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:38163210G>A	ENST00000333167.8	-	0	1785				DLEC1_ENST00000452631.2_Missense_Mutation_p.R1656Q|DLEC1_ENST00000308059.6_Missense_Mutation_p.R1653Q|DLEC1_ENST00000346219.3_Missense_Mutation_p.R1653Q|ACAA1_ENST00000480865.1_5'Flank	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)		AGCCAGCAGCGAGTCCGGGAG	0.632																																						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.(4957-4959)cGa>cAa		deleted in lung and esophageal cancer 1							69	76	74					3																	38163210		2059	4191	6250	SO:0001628	intergenic_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38163210G>A	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"peroxisomal 3-oxoacyl-Coenzyme A thiolase"	604054	"acetyl-Coenzyme A acyltransferase 1"				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38163210G>A			Somatic				DLEC1_ENST00000452631.2_Missense_Mutation_p.R1656Q|DLEC1_ENST00000346219.3_Missense_Mutation_p.R1653Q	p.R1653Q			WXS	Illumina GAIIx	Phase_I	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	35	4979	+			1653					G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	37	c.4958G>A	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681901	0.29872	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05717	3.51;3.4;3.73	4.28	-1.52	0.08637	.	0.931319	0.08913	N	0.875550	T	0.03695	0.0105	N	0.17474	0.49	0.09310	N	1	B;B;B;B;B	0.29037	0.231;0.231;0.043;0.231;0.231	B;B;B;B;B	0.19148	0.024;0.024;0.008;0.024;0.024	T	0.46219	-0.9207	10	0.18276	T	0.48	-2.525	10.8553	0.46796	0.5381:0.0:0.4619:0.0	.	1656;1653;1653;1653;1653	F8W6T4;B1B5Y4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;.;DLEC1_HUMAN	Q	1653;1653;1656	ENSP00000308597:R1653Q;ENSP00000315914:R1653Q;ENSP00000410427:R1656Q	ENSP00000308597:R1653Q	R	+	2	0	DLEC1	38138214	0.000000	0.05858	0.000000	0.03702	0.982000	0.71751	-0.523000	0.06230	-0.261000	0.09405	0.556000	0.70494	CGA		0.632	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		25	52	0	0	0	1	0	25	52					A	38163210	G	A	38163210	1	1	48	0	1	0	0	0	0	0	0	0	4554	1058	37	1		1	DLEC1	3	38163210	IGR	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	341742	38163210	159859220	917	5385										
SCN5A	6331	broad.mit.edu	37	chr3	38595795	38595795	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atggagaggatgacaaccacGaagtcgaagatattccagct	11	8	0	3	rs141789366	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:38595795G>A	ENST00000333535.4	-	27	4937	c.4788C>T	c.(4786-4788)ttC>ttT	p.F1596F	SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000451551.2_Silent_p.F1542F|SCN5A_ENST00000443581.1_Silent_p.F1595F|SCN5A_ENST00000449557.2_Silent_p.F1542F|SCN5A_ENST00000414099.2_Silent_p.F1578F|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000423572.2_Silent_p.F1595F|SCN5A_ENST00000450102.2_Silent_p.F1542F|SCN5A_ENST00000425664.1_Silent_p.F1578F|SCN5A_ENST00000413689.1_Silent_p.F1596F			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1596					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.F1596F(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGACAACCACGAAGTCGAAGA	0.567													G|||	2	0.000399361	0.0015	0	5008	,	,		18696	0		0	False		,,,				2504	0					ENST00000413689.1																			2	Substitution - coding silent(2)	p.F1596F(2)	large_intestine(2)	NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(4786-4788)ttC>ttT		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	G	,,,,,	5,4161		0,5,2078	111	114	113		4785,4788,4734,,4626,4788	-0.7	1	3	dbSNP_134	113	0,8444		0,0,4222	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	,,,,,	0,5,6300	AA,AG,GG		0.0,0.12,0.0397	,,,,,	1595/2016,1596/2017,1578/1999,,1542/1963,1596/2017	38595795	5,12605	2083	4222	6305	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38595795G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4788C>T	3.37:g.38595795G>A			Somatic				SCN5A_ENST00000333535.4_Silent_p.F1596F|SCN5A_ENST00000423572.2_Silent_p.F1595F|SCN5A_ENST00000414099.2_Silent_p.F1578F|SCN5A_ENST00000443581.1_Silent_p.F1595F|SCN5A_ENST00000425664.1_Silent_p.F1578F|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000451551.2_Silent_p.F1542F|SCN5A_ENST00000450102.2_Silent_p.F1542F|SCN5A_ENST00000449557.2_Silent_p.F1542F|SCN5A_ENST00000464652.1_5'UTR	p.F1596F	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)	27	4981	-	Medulloblastoma(35;0.163)		1596					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.4788C>T	CCDS46796.1																																																																																				0.567	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		28	44	0	0	0	1	0	28	44					A	38595795	G	A	38595795	2	1	48	1	0	0	0	0	0	0	0	1	13937	1049	37	1		1	SCN5A	3	38595795	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	432585	38595795	159426635	918	5386										
SCN11A	11280	broad.mit.edu	37	chr3	38936224	38936224	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catgaccaggggaatgatgtCtttgctttgtgcagcacagc	12	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:38936224C>T	ENST00000302328.3	-	15	2833	c.2635G>A	c.(2635-2637)Gac>Aac	p.D879N	SCN11A_ENST00000456224.3_Missense_Mutation_p.D879N|SCN11A_ENST00000450244.1_Missense_Mutation_p.D879N|SCN11A_ENST00000444237.2_Missense_Mutation_p.D879N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	879					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)	GGAATGATGTCTTTGCTTTGT	0.507																																						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.(2635-2637)Gac>Aac		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						116	111	112					3																	38936224		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38936224C>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.2635G>A	3.37:g.38936224C>T	ENSP00000307599:p.Asp879Asn		Somatic				SCN11A_ENST00000444237.2_Missense_Mutation_p.D879N|SCN11A_ENST00000450244.1_Missense_Mutation_p.D879N|SCN11A_ENST00000456224.3_Missense_Mutation_p.D879N	p.D879N	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	2833	-			879					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2635G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003210	0.74932	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.68	5.68	0.88126	Sodium ion transport-associated (1);	1.347400	0.04980	N	0.465411	D	0.85435	0.5696	L	0.39898	1.24	0.34132	D	0.665395	P	0.47191	0.891	P	0.51550	0.673	T	0.74665	-0.3589	10	0.15952	T	0.53	.	16.9345	0.86200	0.0:1.0:0.0:0.0	.	879	Q9UI33	SCNBA_HUMAN	N	879	ENSP00000307599:D879N;ENSP00000400945:D879N;ENSP00000416757:D879N;ENSP00000408028:D879N	ENSP00000307599:D879N	D	-	1	0	SCN11A	38911228	0.002000	0.14202	0.196000	0.23383	0.032000	0.12392	0.764000	0.26532	2.677000	0.91161	0.650000	0.86243	GAC		0.507	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		24	48	0	0	0	1	0	24	48					T	38936224	C	T	38936224	3	4	48	1	0	0	0	0	1	0	0	0	13928	913	32	3	2788	3	SCN11A	3	38936224	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	340429	38936224	159086206	919	5387										
SCN11A	11280	broad.mit.edu	37	chr3	38968336	38968336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagccagttccatggatctCgaaggaaagaaaactcatcc	8	12	2	1	rs554286806		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:38968336C>T	ENST00000302328.3	-	4	773	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	SCN11A_ENST00000456224.3_Missense_Mutation_p.R192Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.R192Q|SCN11A_ENST00000444237.2_Missense_Mutation_p.R192Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	192					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)	CCATGGATCTCGAAGGAAAGA	0.378													C|||	1	0.000199681	8e-04	0	5008	,	,		20406	0		0	False		,,,				2504	0					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.(574-576)cGa>cAa		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						110	118	115					3																	38968336		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38968336C>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.575G>A	3.37:g.38968336C>T	ENSP00000307599:p.Arg192Gln		Somatic				SCN11A_ENST00000444237.2_Missense_Mutation_p.R192Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.R192Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.R192Q	p.R192Q	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)	4	773	-			192					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.575G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507051	0.96386	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98876	-5.2;-5.2;-5.2;-5.2	5.64	5.64	0.86602	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99168	0.9712	M	0.85373	2.75	0.47009	D	0.999283	D	0.89917	1.0	D	0.91635	0.999	D	0.99525	1.0959	10	0.54805	T	0.06	.	17.1906	0.86878	0.0:1.0:0.0:0.0	.	192	Q9UI33	SCNBA_HUMAN	Q	192	ENSP00000307599:R192Q;ENSP00000400945:R192Q;ENSP00000416757:R192Q;ENSP00000408028:R192Q	ENSP00000307599:R192Q	R	-	2	0	SCN11A	38943340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.468000	0.80943	2.658000	0.90341	0.563000	0.77884	CGA		0.378	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		56	78	0	0	0	1	0	56	78					T	38968336	C	T	38968336	3	4	48	1	0	0	0	0	1	0	0	0	13928	884	31	1	4892	1	SCN11A	3	38968336	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	32112	38968336	159054094	920	5388										
SCN11A	11280	broad.mit.edu	37	chr3	38991631	38991631	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caagtcttccagaggctttcCtatgagctcacgaggaatgt	10	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:38991631C>A	ENST00000302328.3	-	1	421	c.223G>T	c.(223-225)Gga>Tga	p.G75*	SCN11A_ENST00000456224.3_Nonsense_Mutation_p.G75*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.G75*|SCN11A_ENST00000444237.2_Nonsense_Mutation_p.G75*	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	75					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)	AGAGGCTTTCCTATGAGCTCA	0.562																																						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.(223-225)Gga>Tga		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						99	100	100					3																	38991631		2203	4300	6503	SO:0001587	stop_gained	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38991631C>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.223G>T	3.37:g.38991631C>A	ENSP00000307599:p.Gly75*		Somatic				SCN11A_ENST00000444237.2_Nonsense_Mutation_p.G75*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.G75*|SCN11A_ENST00000456224.3_Nonsense_Mutation_p.G75*	p.G75*	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)	1	421	-			75					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Nonsense_Mutation	SNP	ENST00000302328.3	37	c.223G>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	38	7.100857	0.98063	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	.	.	.	5.41	4.5	0.54988	.	0.227147	0.45361	D	0.000375	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	10.8953	0.47019	0.3418:0.6582:0.0:0.0	.	.	.	.	X	75	.	ENSP00000307599:G75X	G	-	1	0	SCN11A	38966635	0.001000	0.12720	0.709000	0.30452	0.834000	0.47266	0.172000	0.16704	1.210000	0.43336	0.655000	0.94253	GGA		0.562	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		44	82	1	0	2.37825e-27	1	3.36934e-27	44	82					A	38991631	C	A	38991631	4	1	48	1	0	0	0	0	0	1	0	0	13928	690	24	5	5256	5	SCN11A	3	38991631	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	23295	38991631	159030799	921	5389										
WDR48	57599	broad.mit.edu	37	chr3	39116403	39116403	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acctaagaaaccctgacattCgggtgctaatttgtgaagaa	9	8	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:39116403C>T	ENST00000302313.5	+	8	887	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	WDR48_ENST00000544962.1_Missense_Mutation_p.R79W|WDR48_ENST00000396258.3_Missense_Mutation_p.R205W|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	287					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)		CCCTGACATTCGGGTGCTAAT	0.383																																						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.(859-861)Cgg>Tgg		WD repeat domain 48							105	102	103					3																	39116403		2203	4300	6503	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39116403C>T	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.859C>T	3.37:g.39116403C>T	ENSP00000307491:p.Arg287Trp		Somatic				WDR48_ENST00000396258.3_Missense_Mutation_p.R205W|WDR48_ENST00000544962.1_Missense_Mutation_p.R79W|WDR48_ENST00000418020.1_5'UTR	p.R287W	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)	8	887	+			287					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.859C>T	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068852	0.76301	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;T;T	0.18960	2.18;2.21;2.21	5.81	4.93	0.64822	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.38665	0.1049	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	1.0;0.981;0.981;0.995	D;P;P;P	0.76575	0.988;0.71;0.71;0.517	T	0.07271	-1.0781	10	0.38643	T	0.18	-11.7782	14.5022	0.67729	0.2808:0.7192:0.0:0.0	.	79;205;278;287	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	W	287;79;205	ENSP00000307491:R287W;ENSP00000445187:R79W;ENSP00000379557:R205W	ENSP00000307491:R287W	R	+	1	2	WDR48	39091407	0.990000	0.36364	0.986000	0.45419	0.997000	0.91878	2.473000	0.45145	1.427000	0.47276	0.650000	0.86243	CGG		0.383	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		16	37	0	0	0	1	0	16	37					T	39116403	C	T	39116403	3	4	48	1	0	0	0	0	1	0	0	0	17316	875	31	1	889	1	WDR48	3	39116403	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	124772	39116403	158906027	922	5390										
TTC21A	199223	broad.mit.edu	37	chr3	39159652	39159652	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaacatgaccacagtaagttCtttgaagactcagaaggtga	9	7	2	5	rs373627662		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:39159652C>A	ENST00000431162.2	+	7	943	c.809C>A	c.(808-810)tCt>tAt	p.S270Y	TTC21A_ENST00000301819.6_Missense_Mutation_p.S270Y|TTC21A_ENST00000440121.1_Intron			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	270								p.S270Y(2)		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)		ACAGTAAGTTCTTTGAAGACT	0.458																																						ENST00000301819.6																			2	Substitution - Missense(2)	p.S270Y(2)	large_intestine(2)	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.(808-810)tCt>tAt		tetratricopeptide repeat domain 21A							127	123	124					3																	39159652		1935	4165	6100	SO:0001583	missense	199223						binding	g.chr3:39159652C>A	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.809C>A	3.37:g.39159652C>A	ENSP00000398211:p.Ser270Tyr		Somatic				TTC21A_ENST00000431162.2_Missense_Mutation_p.S270Y|TTC21A_ENST00000440121.1_Intron	p.S270Y	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)	7	986	+			270					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.809C>A	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	C	8.420	0.846160	0.16963	.	.	ENSG00000168026	ENST00000301819;ENST00000431162	T;T	0.58940	0.3;0.3	4.77	0.696	0.18075	.	0.637751	0.13895	N	0.355340	T	0.27594	0.0678	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.21793	-1.0235	10	0.07325	T	0.83	.	5.2219	0.15373	0.1242:0.5492:0.2423:0.0843	.	270;270	Q8NDW8-7;Q8NDW8	.;TT21A_HUMAN	Y	270	ENSP00000301819:S270Y;ENSP00000398211:S270Y	ENSP00000301819:S270Y	S	+	2	0	TTC21A	39134656	0.000000	0.05858	0.055000	0.19348	0.027000	0.11550	0.005000	0.13129	-0.111000	0.12001	-1.150000	0.01838	TCT		0.458	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		32	57	1	0	3.11337e-16	1	4.1367e-16	32	57					A	39159652	C	A	39159652	3	1	48	1	0	0	0	0	1	0	0	0	16702	913	32	2	835	2	TTC21A	3	39159652	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	43249	39159652	158862778	923	5391										
CCR8	1237	broad.mit.edu	37	chr3	39374588	39374588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttctgggtcccattcaacGtggttcttttcctcacttcc	6	13	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:39374588G>A	ENST00000326306.4	+	2	904	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Missense_Mutation_p.V173M	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	256					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CCCATTCAACGTGGTTCTTTT	0.463																																						ENST00000326306.4																			0				NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21						c.(766-768)Gtg>Atg		chemokine (C-C motif) receptor 8							134	110	118					3																	39374588		2203	4300	6503	SO:0001583	missense	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39374588G>A	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.766G>A	3.37:g.39374588G>A	ENSP00000326432:p.Val256Met		Somatic				CCR8_ENST00000545843.1_Missense_Mutation_p.V173M|CCR8_ENST00000414803.1_3'UTR	p.V256M	NM_005201.3	NP_005192.1	WXS	Illumina GAIIx	Phase_I	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	2	904	+			256					B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	c.766G>A	CCDS2684.1	.	.	.	.	.	.	.	.	.	.	G	3.334	-0.136032	0.06711	.	.	ENSG00000179934	ENST00000326306;ENST00000545843	T;T	0.74106	-0.81;-0.81	4.76	-0.495	0.12030	GPCR, rhodopsin-like superfamily (1);	0.374837	0.26300	N	0.025170	T	0.66829	0.2829	L	0.49571	1.57	0.09310	N	1	B;P	0.34815	0.294;0.47	B;B	0.42163	0.21;0.378	T	0.60403	-0.7270	10	0.66056	D	0.02	.	4.484	0.11781	0.5065:0.1733:0.3202:0.0	.	256;173	P51685;Q3KNR3	CCR8_HUMAN;.	M	256;173	ENSP00000326432:V256M;ENSP00000440474:V173M	ENSP00000326432:V256M	V	+	1	0	CCR8	39349592	0.000000	0.05858	0.402000	0.26371	0.054000	0.15201	-0.778000	0.04664	-0.001000	0.14495	-1.799000	0.00621	GTG		0.463	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		15	29	0	0	0	1	0	15	29					A	39374588	G	A	39374588	3	1	48	1	0	0	0	0	1	0	0	0	2949	1145	40	1	768	1	CCR8	3	39374588	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	214936	39374588	158647842	924	5392										
RPSA	3921	broad.mit.edu	37	chr3	39449160	39449160	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcacaatgtccggagcccttGatgtcctgcaaatgaaggag	11	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:39449160G>A	ENST00000301821.6	+	2	125	c.16G>A	c.(16-18)Gat>Aat	p.D6N	RPSA_ENST00000443003.1_Missense_Mutation_p.D6N|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)		Cggagcccttgatgtcctgca	0.438																																						ENST00000301821.6																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(16-18)Gat>Aat		ribosomal protein SA							48	58	55					3																	39449160		1361	2316	3677	SO:0001583	missense	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.chr3:39449160G>A	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.16G>A	3.37:g.39449160G>A	ENSP00000346067:p.Asp6Asn		Somatic				RPSA_ENST00000443003.1_Missense_Mutation_p.D6N	p.D6N	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)	2	125	+			6						Missense_Mutation	SNP	ENST00000301821.6	37	c.16G>A	CCDS2686.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.082296	0.76528	.	.	ENSG00000168028	ENST00000301821;ENST00000458478;ENST00000443003	T;T;T	0.48836	0.81;0.89;0.8	4.8	4.8	0.61643	.	0.000000	0.85682	U	0.000000	T	0.53222	0.1783	M	0.84219	2.685	0.58432	D	0.999999	B;B;B	0.10296	0.003;0.002;0.002	B;B;B	0.15870	0.008;0.008;0.014	T	0.55159	-0.8184	10	0.41790	T	0.15	.	15.7246	0.77743	0.0:0.0:1.0:0.0	.	6;6;6	C9J9K3;C9JQR9;P08865	.;.;RSSA_HUMAN	N	6	ENSP00000346067:D6N;ENSP00000410848:D6N;ENSP00000389351:D6N	ENSP00000346067:D6N	D	+	1	0	RPSA	39424164	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.479000	0.97929	2.378000	0.81104	0.561000	0.74099	GAT		0.438	RPSA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254064.3	NM_002295		24	23	0	0	0	1	0	24	23					A	39449160	G	A	39449160	3	1	48	1	0	0	0	0	1	0	0	0	13678	1290	45	3	18	3	RPSA	3	39449160	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	74572	39449160	158573270	925	5393										
ZNF619	285267	broad.mit.edu	37	chr3	40528772	40528772	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagaaaatccacactggagaGaaaccatactcatgtgagga	9	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:40528772G>T	ENST00000314686.5	+	6	1128	c.723G>T	c.(721-723)gaG>gaT	p.E241D	ZNF619_ENST00000522736.1_Missense_Mutation_p.E248D|ZNF619_ENST00000447116.2_Missense_Mutation_p.E297D|ZNF619_ENST00000456778.1_Missense_Mutation_p.E213D|ZNF619_ENST00000521353.1_Missense_Mutation_p.E297D|ZNF619_ENST00000432264.2_Missense_Mutation_p.E257D|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000429348.2_Missense_Mutation_p.E257D			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	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(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACACTGGAGAGAAACCATACT	0.443																																						ENST00000447116.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(889-891)gaG>gaT		zinc finger protein 619							62	64	64					3																	40528772		2203	4300	6503	SO:0001583	missense	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40528772G>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.723G>T	3.37:g.40528772G>T	ENSP00000322529:p.Glu241Asp		Somatic				ZNF619_ENST00000314686.5_Missense_Mutation_p.E241D|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000429348.2_Missense_Mutation_p.E257D|ZNF619_ENST00000522736.1_Missense_Mutation_p.E248D|ZNF619_ENST00000456778.1_Missense_Mutation_p.E213D|ZNF619_ENST00000432264.2_Missense_Mutation_p.E257D|ZNF619_ENST00000521353.1_Missense_Mutation_p.E297D	p.E297D	NM_001145082.2	NP_001138554.1	WXS	Illumina GAIIx	Phase_I	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	1198	+			297					B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37	c.891G>T		.	.	.	.	.	.	.	.	.	.	G	14.70	2.612478	0.46631	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71	2.64	0.765	0.18470	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34803	0.0910	L	0.37750	1.13	0.24211	N	0.995471	B;D;D;P;D;D	0.61080	0.02;0.989;0.989;0.927;0.989;0.989	B;D;D;P;D;P	0.74023	0.035;0.982;0.982;0.76;0.982;0.894	T	0.13656	-1.0501	9	0.87932	D	0	.	6.3061	0.21139	0.2729:0.0:0.7271:0.0	.	213;257;297;199;248;241	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	D	241;297;257;213;248;297;257	ENSP00000322529:E241D;ENSP00000411132:E297D;ENSP00000398024:E257D;ENSP00000397232:E213D;ENSP00000428004:E248D;ENSP00000430705:E297D;ENSP00000388710:E257D	ENSP00000322529:E241D	E	+	3	2	ZNF619	40503776	0.963000	0.33076	0.991000	0.47740	0.677000	0.39632	0.017000	0.13399	0.048000	0.15891	-0.253000	0.11424	GAG		0.443	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656		20	43	1	0	3.99206e-14	1	5.17458e-14	20	43					T	40528772	G	T	40528772	3	4	48	1	0	0	0	0	1	0	0	0	18058	933	33	2	931	2	ZNF619	3	40528772	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1079612	40528772	157493658	926	5394										
ZNF620	253639	broad.mit.edu	37	chr3	40558152	40558152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccttgactcagcatcagcGaattcacactggggagaagc	11	11	3	2	rs149375136		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:40558152G>A	ENST00000314529.6	+	5	1216	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	ZNF620_ENST00000418905.1_Missense_Mutation_p.R242Q	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CAGCATCAGCGAATTCACACT	0.473																																						ENST00000314529.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11						c.(1066-1068)cGa>cAa		zinc finger protein 620		G	GLN/ARG	0,4406		0,0,2203	78	77	78		1067	1.8	0.2	3	dbSNP_134	78	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZNF620	NM_175888.2	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	356/423	40558152	2,13004	2203	4300	6503	SO:0001583	missense	253639				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40558152G>A	AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"Zinc fingers, C2H2-type", "-"	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.1067G>A	3.37:g.40558152G>A	ENSP00000322265:p.Arg356Gln		Somatic				ZNF620_ENST00000418905.1_Missense_Mutation_p.R242Q	p.R356Q	NM_175888.3	NP_787084.1	WXS	Illumina GAIIx	Phase_I	Q6ZNG0	ZN620_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	5	1216	+			356					Q8N223	Missense_Mutation	SNP	ENST00000314529.6	37	c.1067G>A	CCDS33740.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695364	0.30052	0.0	2.33E-4	ENSG00000177842	ENST00000314529;ENST00000418905	T;T	0.24723	1.84;1.84	2.82	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38852	0.1056	L	0.48174	1.505	0.09310	N	1	D	0.89917	1.0	D	0.71656	0.974	T	0.08534	-1.0717	8	.	.	.	.	9.381	0.38313	0.0:0.2212:0.7788:0.0	.	356	Q6ZNG0	ZN620_HUMAN	Q	356;242	ENSP00000322265:R356Q;ENSP00000391472:R242Q	.	R	+	2	0	ZNF620	40533156	0.026000	0.19158	0.249000	0.24280	0.021000	0.10359	1.675000	0.37555	1.591000	0.50007	0.585000	0.79938	CGA		0.473	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342824.1	XM_171060		28	49	0	0	0	1	0	28	49					A	40558152	G	A	40558152	3	1	48	1	0	0	0	0	1	0	0	0	18059	1058	37	1	1081	1	ZNF620	3	40558152	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	29380	40558152	157464278	927	5395										
ZNF621	285268	broad.mit.edu	37	chr3	40574146	40574146	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaccttatcaatgtaaggaGtgtggcaaagccttcaccca	8	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:40574146G>A	ENST00000339296.5	+	5	1337	c.885G>A	c.(883-885)gaG>gaA	p.E295E	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_Silent_p.E184E|ZNF621_ENST00000403205.2_Silent_p.E295E|ZNF621_ENST00000310898.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	295					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(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)		AATGTAAGGAGTGTGGCAAAG	0.423																																						ENST00000339296.5																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(883-885)gaG>gaA		zinc finger protein 621							69	73	72					3																	40574146		2203	4300	6503	SO:0001819	synonymous_variant	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40574146G>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.885G>A	3.37:g.40574146G>A			Somatic				ZNF621_ENST00000403205.2_Silent_p.E295E|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000431278.1_Silent_p.E184E|ZNF621_ENST00000490457.1_Intron	p.E295E	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	1337	+			295					Q14DC7|Q8TE91	Silent	SNP	ENST00000339296.5	37	c.885G>A	CCDS2693.1																																																																																				0.423	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		20	45	0	0	0	1	0	20	45					A	40574146	G	A	40574146	2	1	48	1	0	0	0	0	0	0	0	1	18060	1020	36	3		3	ZNF621	3	40574146	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	15994	40574146	157448284	928	5396										
CCDC13	152206	broad.mit.edu	37	chr3	42799615	42799615	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagatttcaaacttgcatttAcctcttctcaaagctatttt	4	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:42799615A>C	ENST00000310232.6	-	2	305		c.e2+1		CCDC13_ENST00000435327.2_Splice_Site	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13											endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						ACTTGCATTTACCTCTTCTCA	0.483																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.e2+1		coiled-coil domain containing 13							99	90	93					3																	42799615		2203	4300	6503	SO:0001630	splice_region_variant	152206							g.chr3:42799615A>C	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.221+1T>G	3.37:g.42799615A>C			Somatic				CCDC13_ENST00000435327.2_Splice_Site		NM_144719.3	NP_653320.3	WXS	Illumina GAIIx	Phase_I	Q8IYE1	CCD13_HUMAN			2	305	-									Splice_Site	SNP	ENST00000310232.6	37		CCDS2705.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.332699	0.60853	.	.	ENSG00000244607	ENST00000310232	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9746	0.53083	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC13	42774619	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	4.680000	0.61656	1.918000	0.55548	0.533000	0.62120	.		0.483	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719	Intron	21	39	0	0	0	1	0	21	39					C	42799615	A	C	42799615	5	2	48	1	0	0	0	0	0	0	1	0	2767	405	14	4	1984	4	CCDC13	3	42799615	Splice_Site	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2225469	42799615	155222815	929	5397										
SNRK	54861	broad.mit.edu	37	chr3	43344729	43344729	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcgagggtatgatggaaagAttgctggattatatgatctg	14	3	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:43344729A>C	ENST00000296088.7	+	3	338	c.34A>C	c.(34-36)Att>Ctt	p.I12L	SNRK_ENST00000429705.2_Missense_Mutation_p.I12L|SNRK_ENST00000437827.1_Intron|SNRK_ENST00000454177.1_Missense_Mutation_p.I12L|SNRK_ENST00000462810.1_3'UTR	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TGATGGAAAGATTGCTGGATT	0.398																																						ENST00000296088.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27						c.(34-36)Att>Ctt		SNF related kinase							123	118	120					3																	43344729		1845	4093	5938	SO:0001583	missense	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43344729A>C	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.34A>C	3.37:g.43344729A>C	ENSP00000296088:p.Ile12Leu		Somatic				SNRK_ENST00000454177.1_Missense_Mutation_p.I12L|SNRK_ENST00000429705.2_Missense_Mutation_p.I12L|SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000437827.1_Intron	p.I12L	NM_017719.4	NP_060189.3	WXS	Illumina GAIIx	Phase_I	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	3	338	+			12						Missense_Mutation	SNP	ENST00000296088.7	37	c.34A>C	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.036366	0.75617	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088	D;D;D	0.81996	-1.56;-1.56;-1.56	5.8	5.8	0.92144	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70824	0.3268	N	0.11789	0.175	0.80722	D	1	B;B	0.33964	0.033;0.434	B;B	0.37015	0.027;0.239	T	0.69038	-0.5251	10	0.10636	T	0.68	.	16.1334	0.81461	1.0:0.0:0.0:0.0	.	12;12	Q9NRH2-2;Q9NRH2	.;SNRK_HUMAN	L	12	ENSP00000401246:I12L;ENSP00000411375:I12L;ENSP00000296088:I12L	ENSP00000296088:I12L	I	+	1	0	SNRK	43319733	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.205000	0.71048	0.533000	0.62120	ATT		0.398	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		9	63	0	0	0	1	0	9	63					C	43344729	A	C	43344729	3	2	48	1	0	0	0	0	1	0	0	0	14866	333	12	4	36	4	SNRK	3	43344729	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	545114	43344729	154677701	930	5398										
ZNF445	353274	broad.mit.edu	37	chr3	44489458	44489458	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctatactgattcaattcaaGaaatttcttcttagcatggg	6	8	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44489458G>T	ENST00000396077.2	-	8	2052	c.1705C>A	c.(1705-1707)Ctt>Att	p.L569I	ZNF445_ENST00000425708.2_Missense_Mutation_p.L569I	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	569					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TTCAATTCAAGAAATTTCTTC	0.468																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(1705-1707)Ctt>Att		zinc finger protein 445							95	98	97					3																	44489458		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44489458G>T	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1705C>A	3.37:g.44489458G>T	ENSP00000379387:p.Leu569Ile		Somatic				ZNF445_ENST00000396077.2_Missense_Mutation_p.L569I	p.L569I			WXS	Illumina GAIIx	Phase_I	P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	7	2046	-			569					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.1705C>A	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	G	8.360	0.832988	0.16820	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.60920	0.15;0.15	3.04	1.06	0.20224	.	0.432539	0.17224	N	0.182220	T	0.40272	0.1110	N	0.25485	0.75	0.09310	N	1	B;B	0.31256	0.139;0.316	B;B	0.25405	0.016;0.06	T	0.31138	-0.9954	10	0.72032	D	0.01	.	10.5317	0.44981	0.0:0.3778:0.6222:0.0	.	557;569	B7ZKX2;P59923	.;ZN445_HUMAN	I	569	ENSP00000413073:L569I;ENSP00000379387:L569I	ENSP00000379387:L569I	L	-	1	0	ZNF445	44464462	0.002000	0.14202	0.001000	0.08648	0.925000	0.55904	1.527000	0.35975	0.269000	0.21961	0.591000	0.81541	CTT		0.468	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		32	65	1	0	1.62565e-12	1	2.05093e-12	32	65					T	44489458	G	T	44489458	3	4	48	1	0	0	0	0	1	0	0	0	17933	942	33	2	1394	2	ZNF445	3	44489458	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1144729	44489458	153532972	931	5399										
ZNF445	353274	broad.mit.edu	37	chr3	44489996	44489996	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agactattacttcctgatacTtcagagtcttttcctgtcct	5	11	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44489996T>G	ENST00000396077.2	-	8	1514	c.1167A>C	c.(1165-1167)gaA>gaC	p.E389D	ZNF445_ENST00000425708.2_Missense_Mutation_p.E389D	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	389					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.E389D(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TTCCTGATACTTCAGAGTCTT	0.378																																						ENST00000425708.2																			1	Substitution - Missense(1)	p.E389D(1)	pancreas(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(1165-1167)gaA>gaC		zinc finger protein 445							134	133	133					3																	44489996		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44489996T>G	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1167A>C	3.37:g.44489996T>G	ENSP00000379387:p.Glu389Asp		Somatic				ZNF445_ENST00000396077.2_Missense_Mutation_p.E389D	p.E389D			WXS	Illumina GAIIx	Phase_I	P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	7	1508	-			389					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.1167A>C	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.428000	0.43122	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.05649	3.41;3.41	4.29	-3.32	0.04973	.	0.665977	0.13845	N	0.358726	T	0.03390	0.0098	N	0.24115	0.695	0.09310	N	1	B;B	0.15930	0.015;0.015	B;B	0.10450	0.005;0.005	T	0.36792	-0.9733	10	0.72032	D	0.01	.	2.1814	0.03876	0.135:0.3822:0.1383:0.3445	.	377;389	B7ZKX2;P59923	.;ZN445_HUMAN	D	389	ENSP00000413073:E389D;ENSP00000379387:E389D	ENSP00000379387:E389D	E	-	3	2	ZNF445	44465000	0.000000	0.05858	0.000000	0.03702	0.601000	0.36947	-0.684000	0.05173	-0.595000	0.05828	-1.223000	0.01593	GAA		0.378	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		29	53	0	0	0	1	0	29	53					G	44489996	T	G	44489996	3	3	48	1	0	0	0	0	1	0	0	0	17933	1606	56	4	1932	4	ZNF445	3	44489996	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	538	44489996	153532434	932	5400										
ZNF197	10168	broad.mit.edu	37	chr3	44684747	44684747	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggagaagccatatgaatgtCgagagtgtgggaaaaccttt	14	5	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44684747C>T	ENST00000396058.1	+	5	2292	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Nonsense_Mutation_p.R709*|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	709					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)		ATATGAATGTCGAGAGTGTGG	0.413																																						ENST00000396058.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(2125-2127)Cga>Tga		zinc finger protein 197							74	81	79					3																	44684747		2198	4299	6497	SO:0001587	stop_gained	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44684747C>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.2125C>T	3.37:g.44684747C>T	ENSP00000379370:p.Arg709*		Somatic				ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Nonsense_Mutation_p.R709*|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron	p.R709*			WXS	Illumina GAIIx	Phase_I	O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	5	2292	+			709					B2RAH8|Q86VG0	Nonsense_Mutation	SNP	ENST00000396058.1	37	c.2125C>T	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	-	19.16	3.773580	0.69992	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	.	.	.	4.39	-0.146	0.13432	.	1.613210	0.04563	U	0.391946	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	3.1739	0.06561	0.3431:0.3974:0.1724:0.0871	.	.	.	.	X	709	.	ENSP00000345809:R709X	R	+	1	2	ZNF197	44659751	0.000000	0.05858	0.762000	0.31397	0.380000	0.30137	-1.069000	0.03444	0.129000	0.18514	-1.176000	0.01726	CGA		0.413	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		41	54	0	0	0	1	0	41	54					T	44684747	C	T	44684747	4	4	48	1	0	0	0	0	0	1	0	0	17774	876	31	1	2143	1	ZNF197	3	44684747	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	194751	44684747	153337683	933	5401										
ZNF197	10168	broad.mit.edu	37	chr3	44685303	44685303	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaatcttatggtacatcaaaGaatccatactggagagaaac	7	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44685303G>T	ENST00000396058.1	+	5	2848	c.2681G>T	c.(2680-2682)aGa>aTa	p.R894I	ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.R894I|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	894					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)		GTACATCAAAGAATCCATACT	0.358																																						ENST00000396058.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(2680-2682)aGa>aTa		zinc finger protein 197							83	92	89					3																	44685303		2203	4300	6503	SO:0001583	missense	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44685303G>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.2681G>T	3.37:g.44685303G>T	ENSP00000379370:p.Arg894Ile		Somatic				ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.R894I|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron	p.R894I			WXS	Illumina GAIIx	Phase_I	O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	5	2848	+			894					B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	c.2681G>T	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117202	0.37339	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	T;T	0.02446	4.29;4.29	3.3	3.3	0.37823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34067	U	0.004282	T	0.10121	0.0248	M	0.68728	2.09	0.27634	N	0.947923	D	0.89917	1.0	D	0.97110	1.0	T	0.01570	-1.1322	10	0.62326	D	0.03	.	6.2777	0.20989	0.0:0.2016:0.5911:0.2074	.	894	O14709	ZN197_HUMAN	I	894	ENSP00000345809:R894I;ENSP00000379370:R894I	ENSP00000345809:R894I	R	+	2	0	ZNF197	44660307	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	0.107000	0.15375	2.140000	0.66376	0.557000	0.71058	AGA		0.358	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		36	62	1	0	4.62619e-21	1	6.37263e-21	36	62					T	44685303	G	T	44685303	3	4	48	1	0	0	0	0	1	0	0	0	17774	942	33	2	2699	2	ZNF197	3	44685303	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	556	44685303	153337127	934	5402										
TGM4	7047	broad.mit.edu	37	chr3	44948523	44948523	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatgacaccagattcgtcttCtcagaagtgaatggtgacag	10	8	2	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44948523C>A	ENST00000296125.4	+	10	1226	c.1158C>A	c.(1156-1158)ttC>ttA	p.F386L		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	386					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GATTCGTCTTCTCAGAAGTGA	0.507																																						ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1156-1158)ttC>ttA		transglutaminase 4	L-Glutamine(DB00130)						125	113	117					3																	44948523		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44948523C>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1158C>A	3.37:g.44948523C>A	ENSP00000296125:p.Phe386Leu		Somatic					p.F386L	NM_003241.3	NP_003232.2	WXS	Illumina GAIIx	Phase_I	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	10	1226	+			386					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.1158C>A	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783789	0.70222	.	.	ENSG00000163810	ENST00000296125	D	0.81499	-1.5	2.03	1.09	0.20402	.	0.143886	0.29239	U	0.012729	T	0.76090	0.3939	M	0.77313	2.365	0.35376	D	0.789494	P	0.41313	0.745	B	0.39419	0.299	T	0.79288	-0.1865	10	0.72032	D	0.01	.	5.2833	0.15688	0.0:0.5866:0.0:0.4134	.	386	P49221	TGM4_HUMAN	L	386	ENSP00000296125:F386L	ENSP00000296125:F386L	F	+	3	2	TGM4	44923527	1.000000	0.71417	0.004000	0.12327	0.874000	0.50279	0.611000	0.24268	1.039000	0.40074	0.460000	0.39030	TTC		0.507	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		47	69	1	0	3.4345e-17	1	4.60033e-17	47	69					A	44948523	C	A	44948523	3	1	48	1	0	0	0	0	1	0	0	0	15847	912	32	2	1196	2	TGM4	3	44948523	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	263220	44948523	153073907	935	5403										
TGM4	7047	broad.mit.edu	37	chr3	44955154	44955154	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggacccaagaaatttatcgtCaagttaagttccaaacaagt	7	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44955154C>A	ENST00000296125.4	+	14	2060	c.1992C>A	c.(1990-1992)gtC>gtA	p.V664V		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	664					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AATTTATCGTCAAGTTAAGTT	0.413											OREG0015520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1990-1992)gtC>gtA		transglutaminase 4	L-Glutamine(DB00130)						131	127	128					3																	44955154		2203	4300	6503	SO:0001819	synonymous_variant	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44955154C>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1992C>A	3.37:g.44955154C>A			Somatic	OREG0015520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	927		p.V664V	NM_003241.3	NP_003232.2	WXS	Illumina GAIIx	Phase_I	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	14	2060	+			664					Q16707|Q96QN4	Silent	SNP	ENST00000296125.4	37	c.1992C>A	CCDS2723.1																																																																																				0.413	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		8	63	1	0	0.0381472	1	0.0387537	8	63					A	44955154	C	A	44955154	2	1	48	1	0	0	0	0	0	0	0	1	15847	813	29	2		2	TGM4	3	44955154	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	6631	44955154	153067276	936	5404										
ZDHHC3	51304	broad.mit.edu	37	chr3	44986746	44986746	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcttcaactgtaaactctcGatgaattctttagtggcatt	8	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44986746G>A	ENST00000424952.2	-	3	613	c.345C>T	c.(343-345)atC>atT	p.I115I	ZDHHC3_ENST00000296127.3_Silent_p.I115I|ZDHHC3_ENST00000342790.4_Silent_p.I149I	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	115					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GTAAACTCTCGATGAATTCTT	0.527																																						ENST00000296127.3																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(343-345)atC>atT		zinc finger, DHHC-type containing 3							145	146	145					3																	44986746		2203	4300	6503	SO:0001819	synonymous_variant	51304					Golgi membrane|integral to membrane	zinc ion binding	g.chr3:44986746G>A	AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"Zinc fingers, DHHC-type"	18470	protein-coding gene	gene with protein product	"golgi-specific DHHC Zinc Finger Protein"					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.345C>T	3.37:g.44986746G>A			Somatic				ZDHHC3_ENST00000342790.4_Silent_p.I149I|ZDHHC3_ENST00000424952.2_Silent_p.I115I	p.I115I	NM_016598.2	NP_057682.1	WXS	Illumina GAIIx	Phase_I	Q9NYG2	ZDHC3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)	3	618	-			115					Q53A17|Q96BL0	Silent	SNP	ENST00000424952.2	37	c.345C>T	CCDS46811.1																																																																																				0.527	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347004.1	NM_016598		53	79	0	0	0	1	0	53	79					A	44986746	G	A	44986746	2	1	48	1	0	0	0	0	0	0	0	1	17631	1048	37	1		1	ZDHHC3	3	44986746	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	31592	44986746	153035684	937	5405										
LARS2	23395	broad.mit.edu	37	chr3	45537860	45537860	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacactgaccctcataatccAcacaggtaaaacgtccctgc	5	15	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:45537860A>G	ENST00000415258.1	+	13	1758	c.1617A>G	c.(1615-1617)ccA>ccG	p.P539P	LARS2_ENST00000265537.3_Silent_p.P539P|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000414984.1_Silent_p.P496P			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	539					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)	CTCATAATCCACACAGGTAAA	0.448																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1615-1617)ccA>ccG		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						209	204	206					3																	45537860		2203	4300	6503	SO:0001819	synonymous_variant	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45537860A>G	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.1617A>G	3.37:g.45537860A>G			Somatic				LARS2_ENST00000265537.3_Silent_p.P539P|LARS2_ENST00000414984.1_Silent_p.P496P|LARS2-AS1_ENST00000442534.2_RNA	p.P539P			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)	13	1758	+			539						Silent	SNP	ENST00000415258.1	37	c.1617A>G	CCDS2728.1																																																																																				0.448	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		49	115	0	0	0	1	0	49	115					G	45537860	A	G	45537860	2	3	48	1	0	0	0	0	0	0	0	1	8644	146	6	4		4	LARS2	3	45537860	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	551114	45537860	152484570	938	5406										
SACM1L	22908	broad.mit.edu	37	chr3	45763501	45763501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttctatttaggaattgattCggaaggccatgcagctaact	9	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:45763501C>T	ENST00000389061.5	+	9	893	c.689C>T	c.(688-690)tCg>tTg	p.S230L	SACM1L_ENST00000418611.1_Missense_Mutation_p.S127L|SACM1L_ENST00000541314.1_Missense_Mutation_p.S169L	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	230	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)		GGAATTGATTCGGAAGGCCAT	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.(688-690)tCg>tTg		SAC1 suppressor of actin mutations 1-like (yeast)							97	86	90					3																	45763501		2203	4300	6503	SO:0001583	missense	22908					Golgi apparatus		g.chr3:45763501C>T	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.689C>T	3.37:g.45763501C>T	ENSP00000373713:p.Ser230Leu		Somatic				SACM1L_ENST00000418611.1_Missense_Mutation_p.S127L|SACM1L_ENST00000541314.1_Missense_Mutation_p.S169L	p.S230L	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)	9	893	+			230			SAC.		A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.689C>T	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049492	0.55218	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000541314	T;T;T	0.58060	0.36;0.36;0.36	5.15	5.15	0.70609	Synaptojanin, N-terminal (2);	0.114974	0.64402	D	0.000008	T	0.43389	0.1245	L	0.35414	1.06	0.80722	D	1	B;B	0.29162	0.219;0.235	B;B	0.26517	0.07;0.07	T	0.26224	-1.0109	10	0.21014	T	0.42	.	18.5874	0.91196	0.0:1.0:0.0:0.0	.	169;230	B4DK71;Q9NTJ5	.;SAC1_HUMAN	L	127;230;169	ENSP00000396387:S127L;ENSP00000373713:S230L;ENSP00000443373:S169L	ENSP00000373713:S230L	S	+	2	0	SACM1L	45738505	1.000000	0.71417	0.989000	0.46669	0.908000	0.53690	7.250000	0.78287	2.571000	0.86741	0.585000	0.79938	TCG		0.353	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		14	18	0	0	0	1	0	14	18					T	45763501	C	T	45763501	3	4	48	1	0	0	0	0	1	0	0	0	13818	893	31	1	723	1	SACM1L	3	45763501	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	225641	45763501	152258929	939	5407										
SLC6A20	54716	broad.mit.edu	37	chr3	45817310	45817310	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacaccaccagccaggccagGaggaggcacagcgccggctc	13	16	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:45817310G>A	ENST00000358525.4	-	4	640	c.525C>T	c.(523-525)ctC>ctT	p.L175L	SLC6A20_ENST00000456124.2_Silent_p.L175L|SLC6A20_ENST00000353278.4_Silent_p.L175L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	175					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)		GCCAGGCCAGGAGGAGGCACA	0.637																																						ENST00000358525.4																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(523-525)ctC>ctT		solute carrier family 6 (proline IMINO transporter), member 20							120	109	113					3																	45817310		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:45817310G>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.525C>T	3.37:g.45817310G>A			Somatic				SLC6A20_ENST00000353278.4_Silent_p.L175L|SLC6A20_ENST00000456124.2_Silent_p.L175L	p.L175L	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)	4	640	-			175					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	ENST00000358525.4	37	c.525C>T	CCDS43077.1																																																																																				0.637	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		45	47	0	0	0	1	0	45	47					A	45817310	G	A	45817310	2	1	48	1	0	0	0	0	0	0	0	1	14699	1161	41	3		3	SLC6A20	3	45817310	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	53809	45817310	152205120	940	5408										
CCR3	1232	broad.mit.edu	37	chr3	46307386	46307386	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctcatttttgtcatcatggCggtgtttttcattttctgga	9	7	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:46307386C>T	ENST00000357422.2	+	4	1280	c.737C>T	c.(736-738)gCg>gTg	p.A246V	CCR3_ENST00000395942.2_Missense_Mutation_p.A246V|CCR3_ENST00000541018.1_Missense_Mutation_p.A246V|CCR3_ENST00000395940.2_Missense_Mutation_p.A246V|CCR3_ENST00000545097.1_Missense_Mutation_p.A267V			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	246					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GTCATCATGGCGGTGTTTTTC	0.453																																						ENST00000357422.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18						c.(736-738)gCg>gTg		chemokine (C-C motif) receptor 3							78	78	78					3																	46307386		2203	4300	6503	SO:0001583	missense	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46307386C>T	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.737C>T	3.37:g.46307386C>T	ENSP00000350003:p.Ala246Val		Somatic				CCR3_ENST00000395940.2_Missense_Mutation_p.A246V|CCR3_ENST00000395942.2_Missense_Mutation_p.A246V|CCR3_ENST00000545097.1_Missense_Mutation_p.A267V|CCR3_ENST00000541018.1_Missense_Mutation_p.A246V	p.A246V			WXS	Illumina GAIIx	Phase_I	P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	1280	+			246					B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	c.737C>T	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412433	0.25465	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.96	4.74	0.60224	GPCR, rhodopsin-like superfamily (1);	1.004860	0.08015	N	0.991053	T	0.13457	0.0326	N	0.00446	-1.495	0.20764	N	0.999851	B;B	0.09022	0.002;0.002	B;B	0.06405	0.001;0.002	T	0.23119	-1.0197	10	0.30078	T	0.28	.	11.8978	0.52665	0.0:0.0685:0.0:0.9315	.	267;246	F5GWL6;P51677	.;CCR3_HUMAN	V	246;267;246;246;246	ENSP00000350003:A246V;ENSP00000441600:A267V;ENSP00000440097:A246V;ENSP00000379271:A246V;ENSP00000379273:A246V	ENSP00000350003:A246V	A	+	2	0	CCR3	46282390	0.001000	0.12720	0.999000	0.59377	0.689000	0.40095	0.843000	0.27640	1.061000	0.40601	-0.290000	0.09829	GCG		0.453	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			18	31	0	0	0	1	0	18	31					T	46307386	C	T	46307386	3	4	48	1	0	0	0	0	1	0	0	0	2944	768	27	1	806	1	CCR3	3	46307386	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	490076	46307386	151715044	941	5409										
CCR5	1234	broad.mit.edu	37	chr3	46415317	46415317	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagaagttcagaaactacctCttagtcttcttccaaaagca	6	10	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:46415317C>A	ENST00000292303.4	+	2	1070	c.924C>A	c.(922-924)ctC>ctA	p.L308L	CCR5_ENST00000343801.4_Silent_p.L308L|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Silent_p.L308L	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	308					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GAAACTACCTCTTAGTCTTCT	0.493																																						ENST00000343801.4																			0				central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(922-924)ctC>ctA		chemokine (C-C motif) receptor 5 (gene/pseudogene)	Maraviroc(DB04835)						181	175	177					3																	46415317		2203	4296	6499	SO:0001819	synonymous_variant	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46415317C>A		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1606	protein-coding gene	gene with protein product		601373	"chemokine (C-C motif) receptor 5"	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.924C>A	3.37:g.46415317C>A			Somatic				CCR5_ENST00000445772.1_Silent_p.L308L|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000292303.4_Silent_p.L308L	p.L308L	NM_000579.3	NP_000570.1	WXS	Illumina GAIIx	Phase_I	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	3	1281	+			308					O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Silent	SNP	ENST00000292303.4	37	c.924C>A	CCDS2739.1																																																																																				0.493	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2	NM_000579		51	83	1	0	5.85753e-14	1	7.57693e-14	51	83					A	46415317	C	A	46415317	2	1	48	1	0	0	0	0	0	0	0	1	2946	900	32	2		2	CCR5	3	46415317	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	107931	46415317	151607113	942	5410										
LTF	4057	broad.mit.edu	37	chr3	46497452	46497452	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcaccacagccacggcataAtagtgagttcgtggctctgc	10	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:46497452A>C	ENST00000231751.4	-	4	628	c.333T>G	c.(331-333)taT>taG	p.Y111*	LTF_ENST00000426532.2_Nonsense_Mutation_p.Y67*|LTF_ENST00000417439.1_Nonsense_Mutation_p.Y111*	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	111	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)		CCACGGCATAATAGTGAGTTC	0.537																																						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.(331-333)taT>taG		lactotransferrin	Pefloxacin(DB00487)						45	43	44					3																	46497452		2203	4300	6503	SO:0001587	stop_gained	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.chr3:46497452A>C		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.333T>G	3.37:g.46497452A>C	ENSP00000231751:p.Tyr111*		Somatic				LTF_ENST00000426532.2_Nonsense_Mutation_p.Y67*|LTF_ENST00000417439.1_Nonsense_Mutation_p.Y111*	p.Y111*	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)	4	628	-			111			Transferrin-like 1.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Nonsense_Mutation	SNP	ENST00000231751.4	37	c.333T>G	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	A	36	5.754971	0.96898	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496;ENST00000431944;ENST00000415180	.	.	.	4.75	-4.3	0.03710	.	0.057907	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.79	12.2561	0.54625	0.43:0.0:0.57:0.0	.	.	.	.	X	111;67;111;98;122;67	.	ENSP00000231751:Y111X	Y	-	3	2	LTF	46472456	0.999000	0.42202	0.930000	0.37139	0.949000	0.60115	0.460000	0.21924	-0.637000	0.05516	0.533000	0.62120	TAT		0.537	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		9	25	0	0	0	1	0	9	25					C	46497452	A	C	46497452	4	2	48	1	0	0	0	0	0	1	0	0	9088	108	4	4	1855	4	LTF	3	46497452	Nonsense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	82135	46497452	151524978	943	5411										
PRSS42	339906	broad.mit.edu	37	chr3	46874577	46874577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagaagggcaaggtcatttCgaatggttgtaactgttgag	15	4	1	2	rs374184659		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:46874577C>T	ENST00000429665.1	-	3	490	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	PRSS42_ENST00000447340.1_Missense_Mutation_p.R60Q	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	164	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				germ cell development (GO:0007281)|spermatogenesis (GO:0007283)	anchored component of plasma membrane (GO:0046658)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						AAGGTCATTTCGAATGGTTGT	0.458																																						ENST00000447340.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						c.(178-180)cGa>cAa		protease, serine, 42		C	GLN/ARG	0,3960		0,0,1980	137	139	138		491	-9.1	0	3		138	1,8319		0,1,4159	no	missense	PRSS42	NM_182702.1	43	0,1,6139	TT,TC,CC		0.012,0.0,0.0081	benign	164/294	46874577	1,12279	1980	4160	6140	SO:0001583	missense	339906				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:46874577C>T		CCDS46816.1	3p21.31	2010-05-07			ENSG00000178055	ENSG00000178055		"Serine peptidases / Serine peptidases"	30716	protein-coding gene	gene with protein product	"testis serine protease 2"					12838346	Standard	NM_182702		Approved	TESSP2	uc011bap.2	Q7Z5A4	OTTHUMG00000156496	ENST00000429665.1:c.491G>A	3.37:g.46874577C>T	ENSP00000401701:p.Arg164Gln		Somatic				PRSS42_ENST00000429665.1_Missense_Mutation_p.R164Q	p.R60Q			WXS	Illumina GAIIx	Phase_I	Q7Z5A4	PRS42_HUMAN			2	232	-			164						Missense_Mutation	SNP	ENST00000429665.1	37	c.179G>A	CCDS46816.1	.	.	.	.	.	.	.	.	.	.	C	7.977	0.750404	0.15778	0.0	1.2E-4	ENSG00000178055	ENST00000447340;ENST00000429665	D;D	0.88277	-2.36;-2.36	4.53	-9.07	0.00724	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.125170	0.02489	N	0.089288	T	0.77698	0.4169	L	0.28504	0.86	0.09310	N	1	B;B	0.15930	0.015;0.001	B;B	0.16289	0.015;0.002	T	0.64922	-0.6293	10	0.12430	T	0.62	.	6.9271	0.24422	0.2428:0.4939:0.0:0.2633	.	164;60	Q7Z5A4;C9JX34	PRS42_HUMAN;.	Q	60;164	ENSP00000401581:R60Q;ENSP00000401701:R164Q	ENSP00000401701:R164Q	R	-	2	0	PRSS42	46849581	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.081000	0.03403	-1.610000	0.01583	-0.431000	0.05894	CGA		0.458	PRSS42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344347.1	NM_182702		26	39	0	0	0	1	0	26	39					T	46874577	C	T	46874577	3	4	48	1	0	0	0	0	1	0	0	0	12640	884	31	1	401	1	PRSS42	3	46874577	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	377125	46874577	151147853	944	5412										
SETD2	29072	broad.mit.edu	37	chr3	47103827	47103827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccaacagcatcccttcctCgttcagttgctaagggaaaa	8	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:47103827C>T	ENST00000409792.3	-	14	6161	c.6119G>A	c.(6118-6120)cGa>cAa	p.R2040Q	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2040					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCCCTTCCTCGTTCAGTTGC	0.393			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(6118-6120)cGa>cAa		SET domain containing 2							206	209	208					3																	47103827		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.chr3:47103827C>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6119G>A	3.37:g.47103827C>T	ENSP00000386759:p.Arg2040Gln		Somatic				SETD2_ENST00000492397.1_5'UTR	p.R2040Q	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)	14	6161	-		Acute lymphoblastic leukemia(5;0.0169)	2040					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.6119G>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627504	0.87560	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	D	0.90324	-2.65	4.77	4.77	0.60923	.	0.000000	0.42420	D	0.000710	D	0.94145	0.8122	L	0.58101	1.795	0.49483	D	0.999798	D;D	0.89917	1.0;1.0	D;P	0.71414	0.973;0.901	D	0.94532	0.7737	10	0.72032	D	0.01	.	18.3496	0.90333	0.0:1.0:0.0:0.0	.	2040;2040	F2Z317;Q9BYW2	.;SETD2_HUMAN	Q	2040	ENSP00000386759:R2040Q	ENSP00000386759:R2040Q	R	-	2	0	SETD2	47078831	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	4.752000	0.62176	2.639000	0.89480	0.455000	0.32223	CGA		0.393	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		58	116	0	0	0	1	0	58	116					T	47103827	C	T	47103827	3	4	48	1	0	0	0	0	1	0	0	0	14146	884	31	1	1607	1	SETD2	3	47103827	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	229250	47103827	150918603	945	5413										
SCAP	22937	broad.mit.edu	37	chr3	47456433	47456433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggtgacaggccactgtgtCgctgctgctgtacactggag	14	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:47456433C>T	ENST00000265565.5	-	20	3602	c.3190G>A	c.(3190-3192)Gac>Aac	p.D1064N	SCAP_ENST00000441517.2_Missense_Mutation_p.D808N|SCAP_ENST00000545718.1_Missense_Mutation_p.D671N	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1064	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)		GCCACTGTGTCGCTGCTGCTG	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.(3190-3192)Gac>Aac		SREBF chaperone							45	51	49					3																	47456433		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.chr3:47456433C>T	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3190G>A	3.37:g.47456433C>T	ENSP00000265565:p.Asp1064Asn		Somatic				SCAP_ENST00000545718.1_Missense_Mutation_p.D671N|SCAP_ENST00000441517.2_Missense_Mutation_p.D808N	p.D1064N	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)	20	3602	-			1064			Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.3190G>A	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161903	0.57368	.	.	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.81415	-1.49;-1.39;0.75	5.4	4.52	0.55395	WD40 repeat-like-containing domain (1);	0.095278	0.64402	N	0.000001	T	0.70272	0.3205	L	0.29908	0.895	0.52099	D	0.999944	B;B	0.22211	0.066;0.003	B;B	0.14023	0.01;0.003	T	0.66858	-0.5817	10	0.42905	T	0.14	-20.8908	13.0195	0.58777	0.0:0.921:0.0:0.079	.	808;1064	F8W921;Q12770	.;SCAP_HUMAN	N	556;690;1064;808;671	ENSP00000265565:D1064N;ENSP00000416847:D808N;ENSP00000438956:D671N	ENSP00000265565:D1064N	D	-	1	0	SCAP	47431437	0.988000	0.35896	0.434000	0.26772	0.549000	0.35272	2.364000	0.44187	1.474000	0.48178	0.655000	0.94253	GAC		0.597	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		4	68	0	0	0	1	0	4	68					T	47456433	C	T	47456433	3	4	48	1	0	0	0	0	1	0	0	0	13892	884	31	1	665	1	SCAP	3	47456433	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	352606	47456433	150565997	946	5414										
CSPG5	10675	broad.mit.edu	37	chr3	47618877	47618877	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccctcaccatccagtccttcGaagtagtcgatgtcaatgat	7	13	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:47618877G>A	ENST00000383738.2	-	2	2737	c.639C>T	c.(637-639)ttC>ttT	p.F213F	CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000264723.4_Silent_p.F213F|CSPG5_ENST00000456150.1_Silent_p.F75F	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	213					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCAGTCCTTCGAAGTAGTCGA	0.592																																						ENST00000383738.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(637-639)ttC>ttT		chondroitin sulfate proteoglycan 5 (neuroglycan C)							51	53	52					3																	47618877		2203	4300	6503	SO:0001819	synonymous_variant	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618877G>A	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.639C>T	3.37:g.47618877G>A			Somatic				CSPG5_ENST00000264723.4_Silent_p.F213F|CSPG5_ENST00000456150.1_Silent_p.F75F	p.F213F	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	WXS	Illumina GAIIx	Phase_I	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	2737	-			213					Q71M39|Q71M40	Silent	SNP	ENST00000383738.2	37	c.639C>T	CCDS56253.1																																																																																				0.592	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		14	39	0	0	0	1	0	14	39					A	47618877	G	A	47618877	2	1	48	1	0	0	0	0	0	0	0	1	3963	1049	37	1		1	CSPG5	3	47618877	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	162444	47618877	150403553	947	5415										
ZNF589	51385	broad.mit.edu	37	chr3	48310236	48310236	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagctcattaagcaccagaGaattcacacgggggataagc	11	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48310236G>T	ENST00000354698.3	+	4	1127	c.1055G>T	c.(1054-1056)aGa>aTa	p.R352I	ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000412564.1_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	352					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGCACCAGAGAATTCACACG	0.478																																					Colon(9;319 328 25374 27611 50948)	ENST00000354698.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(1054-1056)aGa>aTa		zinc finger protein 589							82	90	87					3																	48310236		2143	4272	6415	SO:0001583	missense	51385				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:48310236G>T	AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"Zinc fingers, C2H2-type", "-"	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.1055G>T	3.37:g.48310236G>T	ENSP00000346729:p.Arg352Ile		Somatic				ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000427617.2_Intron	p.R352I	NM_016089.2	NP_057173.2	WXS	Illumina GAIIx	Phase_I	Q86UQ0	ZN589_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	4	1127	+			352					Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Missense_Mutation	SNP	ENST00000354698.3	37	c.1055G>T	CCDS43085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.34|12.34	1.908846|1.908846	0.33721|0.33721	.|.	.|.	ENSG00000164048|ENSG00000164048	ENST00000296437|ENST00000354698	.|T	.|0.18502	.|2.21	1.07|1.07	1.07|1.07	0.20283|0.20283	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	.|T	.|0.31263	.|0.0791	M|M	0.76433|0.76433	2.335|2.335	0.80722|0.80722	D|D	1|1	.|D;B	.|0.71674	.|0.998;0.237	.|D;B	.|0.64877	.|0.93;0.15	.|T	.|0.14476	.|-1.0471	.|9	.|0.66056	.|D	.|0.02	.|.	3.3292|3.3292	0.07077|0.07077	0.2736:0.0:0.7264:0.0|0.2736:0.0:0.7264:0.0	.|.	.|349;352	.|Q86UQ0-2;Q86UQ0	.|.;ZN589_HUMAN	.|I	-1|352	.|ENSP00000346729:R352I	.|ENSP00000346729:R352I	.|R	+|+	.|2	.|0	ZNF589|ZNF589	48285240|48285240	0.000000|0.000000	0.05858|0.05858	0.961000|0.961000	0.40146|0.40146	0.351000|0.351000	0.29236|0.29236	0.665000|0.665000	0.25083|0.25083	0.903000|0.903000	0.36546|0.36546	0.313000|0.313000	0.20887|0.20887	.|AGA		0.478	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346124.1	NM_016089		25	81	1	0	3.6726e-16	1	4.87283e-16	25	81					T	48310236	G	T	48310236	3	4	48	1	0	0	0	0	1	0	0	0	18036	942	33	2	1069	2	ZNF589	3	48310236	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	691359	48310236	149712194	948	5416										
ATRIP	84126	broad.mit.edu	37	chr3	48502155	48502155	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgacccagtgccttaaggttTtggtgaaattagccgaaaac	10	8	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48502155T>G	ENST00000320211.3	+	8	1815	c.1702T>G	c.(1702-1704)Ttg>Gtg	p.L568V	ATRIP_ENST00000346691.4_Missense_Mutation_p.L568V|ATRIP_ENST00000357105.6_Missense_Mutation_p.L441V|ATRIP_ENST00000412052.1_Missense_Mutation_p.L475V	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	568					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				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)		CCTTAAGGTTTTGGTGAAATT	0.473								Other conserved DNA damage response genes																														ENST00000412052.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22						c.(1423-1425)Ttg>Gtg	Other conserved DNA damage response genes	ATR interacting protein							71	73	72					3																	48502155		2203	4300	6503	SO:0001583	missense	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48502155T>G	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.1702T>G	3.37:g.48502155T>G	ENSP00000323099:p.Leu568Val		Somatic				ATRIP_ENST00000357105.6_Missense_Mutation_p.L441V|ATRIP_ENST00000346691.4_Missense_Mutation_p.L568V|ATRIP_ENST00000320211.3_Missense_Mutation_p.L568V	p.L475V	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)	8	1885	+			568					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	c.1423T>G	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.567964	0.65651	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.75821	1.97;-0.97;1.97;1.97	6.08	3.73	0.42828	.	0.000000	0.85682	D	0.000000	D	0.82802	0.5116	M	0.73962	2.25	0.47245	D	0.999363	D;D	0.71674	0.998;0.998	D;D	0.83275	0.996;0.996	T	0.80430	-0.1386	9	.	.	.	-10.0423	7.4065	0.26993	0.0:0.2379:0.0:0.7621	.	568;568	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	V	568;568;441;475	ENSP00000323099:L568V;ENSP00000302338:L568V;ENSP00000349620:L441V;ENSP00000400930:L475V	.	L	+	1	2	ATRIP	48477159	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.677000	0.37576	0.552000	0.29026	0.482000	0.46254	TTG		0.473	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		22	52	0	0	0	1	0	22	52					G	48502155	T	G	48502155	3	3	48	1	0	0	0	0	1	0	0	0	1205	1838	64	4	1732	4	ATRIP	3	48502155	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	191919	48502155	149520275	949	5417										
COL7A1	1294	broad.mit.edu	37	chr3	48630293	48630293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagtcacagggccactggccGctgtccactgtactctcaag	10	15	2	0	rs201916805		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48630293G>A	ENST00000328333.8	-	6	868	c.761C>T	c.(760-762)gCg>gTg	p.A254V	COL7A1_ENST00000454817.1_Missense_Mutation_p.A254V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	254	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCACTGGCCGCTGTCCACTG	0.617													G|||	1	0.000199681	0	0	5008	,	,		17457	0.001		0	False		,,,				2504	0					ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(760-762)gCg>gTg		collagen, type VII, alpha 1							32	33	33					3																	48630293		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48630293G>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.761C>T	3.37:g.48630293G>A	ENSP00000332371:p.Ala254Val		Somatic				COL7A1_ENST00000454817.1_Missense_Mutation_p.A254V	p.A254V	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)	6	868	-			254			Fibronectin type-III 1.|Nonhelical region (NC1).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.761C>T	CCDS2773.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.66	1.704265	0.30232	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.58940	0.3;0.3	4.31	4.31	0.51392	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.41605	D	0.000842	T	0.65964	0.2742	L	0.39692	1.235	0.09310	N	0.999999	D	0.76494	0.999	D	0.65573	0.936	T	0.59778	-0.7390	10	0.62326	D	0.03	.	14.4362	0.67282	0.0:0.1479:0.8521:0.0	.	254	Q02388	CO7A1_HUMAN	V	254	ENSP00000332371:A254V;ENSP00000412569:A254V	ENSP00000332371:A254V	A	-	2	0	COL7A1	48605297	0.946000	0.32159	0.970000	0.41538	0.991000	0.79684	4.963000	0.63694	2.136000	0.66102	0.462000	0.41574	GCG		0.617	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		14	22	0	0	0	1	0	14	22					A	48630293	G	A	48630293	3	1	48	1	0	0	0	0	1	0	0	0	3706	1087	38	1	8525	1	COL7A1	3	48630293	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	128138	48630293	149392137	950	5418										
COL7A1	1294	broad.mit.edu	37	chr3	48630635	48630635	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagtcattgacgaagaagaaGaagtcactggtgggctgtga	14	5	2	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48630635G>T	ENST00000328333.8	-	5	689	c.582C>A	c.(580-582)ttC>ttA	p.F194L	COL7A1_ENST00000454817.1_Missense_Mutation_p.F194L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	194	Nonhelical region (NC1).|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAAGAAGAAGAAGTCACTGG	0.567																																						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.(580-582)ttC>ttA		collagen, type VII, alpha 1							145	110	122					3																	48630635		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48630635G>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.582C>A	3.37:g.48630635G>T	ENSP00000332371:p.Phe194Leu		Somatic				COL7A1_ENST00000454817.1_Missense_Mutation_p.F194L	p.F194L	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)	5	689	-			194			Nonhelical region (NC1).|VWFA 1.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.582C>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231031	0.39399	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.83075	-1.68;-1.68	4.22	4.22	0.49857	von Willebrand factor, type A (3);	0.160653	0.29624	N	0.011638	T	0.80829	0.4698	N	0.17901	0.54	0.38837	D	0.955985	D	0.67145	0.996	D	0.63381	0.914	T	0.77752	-0.2470	10	0.20046	T	0.44	.	11.5951	0.50968	0.0881:0.0:0.9119:0.0	.	194	Q02388	CO7A1_HUMAN	L	194	ENSP00000332371:F194L;ENSP00000412569:F194L	ENSP00000332371:F194L	F	-	3	2	COL7A1	48605639	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.869000	0.56062	2.072000	0.62099	0.561000	0.74099	TTC		0.567	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		9	66	1	0	0.000442599	1	0.00046913	9	66					T	48630635	G	T	48630635	3	4	48	1	0	0	0	0	1	0	0	0	3706	933	33	2	8708	2	COL7A1	3	48630635	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	342	48630635	149391795	951	5419										
CELSR3	1951	broad.mit.edu	37	chr3	48699046	48699046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccacgcgtagcaccgcggtgCctgctgcctcattctccggc	11	18	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48699046C>T	ENST00000164024.4	-	1	1302	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.G341D	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	341	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACCGCGGTGCCTGCTGCCTC	0.682																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(1021-1023)gGc>gAc		cadherin, EGF LAG seven-pass G-type receptor 3							41	46	44					3																	48699046		2189	4284	6473	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48699046C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1022G>A	3.37:g.48699046C>T	ENSP00000164024:p.Gly341Asp		Somatic				CELSR3_ENST00000164024.4_Missense_Mutation_p.G341D	p.G341D			WXS	Illumina GAIIx	Phase_I	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	1302	-			341			Cadherin 1.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.1022G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654425	0.67472	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.75050	-0.9;-0.9	5.83	5.83	0.93111	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.88093	0.6344	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.954	D	0.88794	0.3280	9	0.87932	D	0	.	19.7135	0.96105	0.0:1.0:0.0:0.0	.	341;411	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	D	341	ENSP00000164024:G341D;ENSP00000445694:G341D	ENSP00000164024:G341D	G	-	2	0	CELSR3	48674050	1.000000	0.71417	0.984000	0.44739	0.202000	0.24057	5.948000	0.70249	2.769000	0.95229	0.655000	0.94253	GGC		0.682	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		40	75	0	0	0	1	0	40	75					T	48699046	C	T	48699046	3	4	48	1	0	0	0	0	1	0	0	0	3225	739	26	3	9056	3	CELSR3	3	48699046	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	68411	48699046	149323384	952	5420										
LAMB2	3913	broad.mit.edu	37	chr3	49160170	49160170	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttcacactctggataagttCttgaagttcctggttggcct	9	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:49160170C>A	ENST00000418109.1	-	28	4704	c.4540G>T	c.(4540-4542)Gaa>Taa	p.E1514*	LAMB2_ENST00000305544.4_Nonsense_Mutation_p.E1514*|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000398892.3_5'Flank|USP19_ENST00000488993.1_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000434032.2_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1514	Domain I.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGATAAGTTCTTGAAGTTCC	0.597																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(4540-4542)Gaa>Taa		laminin, beta 2 (laminin S)							151	145	147					3																	49160170		2203	4300	6503	SO:0001587	stop_gained	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49160170C>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4540G>T	3.37:g.49160170C>A	ENSP00000388325:p.Glu1514*		Somatic				LAMB2_ENST00000305544.4_Nonsense_Mutation_p.E1514*	p.E1514*	NM_002292.3	NP_002283.3	WXS	Illumina GAIIx	Phase_I	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	28	4704	-			1514			Domain I.		Q16321	Nonsense_Mutation	SNP	ENST00000418109.1	37	c.4540G>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	44	10.636755	0.99442	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	.	.	.	5.6	4.72	0.59763	.	0.052056	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	16.5307	0.84357	0.0:0.8692:0.1308:0.0	.	.	.	.	X	1514;1514;281	.	ENSP00000307156:E1514X	E	-	1	0	LAMB2	49135174	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.673000	0.61604	1.332000	0.45431	0.655000	0.94253	GAA		0.597	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		9	122	1	0	0.00621372	1	0.0064192	9	122					A	49160170	C	A	49160170	4	1	48	1	0	0	0	0	0	1	0	0	8620	922	32	2	880	2	LAMB2	3	49160170	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	461124	49160170	148862260	953	5421										
DAG1	1605	broad.mit.edu	37	chr3	49570157	49570157	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccgcccacagaagtgcctgAcagggaccctgagaagagca	13	13	0	4	rs547451431		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:49570157A>C	ENST00000539901.1	+	3	2771	c.2213A>C	c.(2212-2214)gAc>gCc	p.D738A	DAG1_ENST00000515359.2_Missense_Mutation_p.D738A|DAG1_ENST00000545947.1_Missense_Mutation_p.D738A|DAG1_ENST00000308775.2_Missense_Mutation_p.D738A|DAG1_ENST00000538711.1_Missense_Mutation_p.D738A|DAG1_ENST00000541308.1_Missense_Mutation_p.D738A	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	738					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)		GAAGTGCCTGACAGGGACCCT	0.592																																						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.(2212-2214)gAc>gCc		dystroglycan 1 (dystrophin-associated glycoprotein 1)							44	45	44					3																	49570157		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.chr3:49570157A>C	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.2213A>C	3.37:g.49570157A>C	ENSP00000439334:p.Asp738Ala		Somatic				DAG1_ENST00000308775.2_Missense_Mutation_p.D738A|DAG1_ENST00000515359.2_Missense_Mutation_p.D738A|DAG1_ENST00000538711.1_Missense_Mutation_p.D738A|DAG1_ENST00000539901.1_Missense_Mutation_p.D738A|DAG1_ENST00000541308.1_Missense_Mutation_p.D738A	p.D738A	NM_001177634.2	NP_001171105.1	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	2935	+			738					A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.2213A>C	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	A	8.691	0.907462	0.17833	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.58	4.41	0.53225	.	0.251046	0.45606	N	0.000344	T	0.25680	0.0625	N	0.04724	-0.175	0.24492	N	0.99429	B	0.21225	0.053	B	0.24394	0.053	T	0.17167	-1.0378	9	.	.	.	-16.3379	11.2408	0.48968	0.7093:0.2907:0.0:0.0	.	738	Q14118	DAG1_HUMAN	A	738	ENSP00000440705:D738A;ENSP00000312435:D738A;ENSP00000442600:D738A;ENSP00000440590:D738A;ENSP00000439334:D738A;ENSP00000438421:D738A	.	D	+	2	0	DAG1	49545161	0.835000	0.29415	0.993000	0.49108	0.899000	0.52679	1.694000	0.37752	0.927000	0.37143	0.528000	0.53228	GAC		0.592	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			25	54	0	0	0	1	0	25	54					C	49570157	A	C	49570157	3	2	48	1	0	0	0	0	1	0	0	0	4227	275	10	4	2219	4	DAG1	3	49570157	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	409987	49570157	148452273	954	5422										
MON1A	84315	broad.mit.edu	37	chr3	49946481	49946481	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcgtgagaatgaagaggcggTcttcctctttgcggatccag	14	9	2	3	rs200976109		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:49946481T>C	ENST00000417270.1	-	7	2351	c.1658A>G	c.(1657-1659)gAc>gGc	p.D553G	MON1A_ENST00000296473.3_Missense_Mutation_p.D642G|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000483022.1_5'Flank|MON1A_ENST00000455683.2_Missense_Mutation_p.D480G			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	545										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GAAGAGGCGGTCTTCCTCTTT	0.582																																						ENST00000417270.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13						c.(1657-1659)gAc>gGc		MON1 secretory trafficking family member A							53	47	49					3																	49946481		2203	4300	6503	SO:0001583	missense	84315						protein binding	g.chr3:49946481T>C	AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"MON1 homolog A (yeast)"			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.1658A>G	3.37:g.49946481T>C	ENSP00000399613:p.Asp553Gly		Somatic				MON1A_ENST00000455683.2_Missense_Mutation_p.D480G|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.D642G	p.D553G			WXS	Illumina GAIIx	Phase_I	Q86VX9	MON1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	7	2351	-			545					B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	ENST00000417270.1	37	c.1658A>G		.	.	.	.	.	.	.	.	.	.	T	23.6	4.435800	0.83885	.	.	ENSG00000164077	ENST00000296473;ENST00000417270;ENST00000455683	.	.	.	5.37	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.74749	0.3757	M	0.63428	1.95	0.80722	D	1	B;D	0.89917	0.421;1.0	B;D	0.81914	0.254;0.995	T	0.75221	-0.3394	9	0.56958	D	0.05	-16.0356	12.3158	0.54955	0.0:0.0:0.1415:0.8585	.	480;545	G5E9N1;Q86VX9	.;MON1A_HUMAN	G	642;553;480	.	ENSP00000296473:D642G	D	-	2	0	MON1A	49921485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.294000	0.72738	0.863000	0.35553	0.524000	0.50904	GAC		0.582	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		16	21	0	0	0	1	0	16	21					C	49946481	T	C	49946481	3	2	48	1	0	0	0	0	1	0	0	0	9707	1667	58	4	37	4	MON1A	3	49946481	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	376324	49946481	148075949	955	5423										
SLC38A3	10991	broad.mit.edu	37	chr3	50255384	50255384	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccatcatggccttcgccttCgtctgccaccccgaggtgct	9	18	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:50255384C>T	ENST00000420502.1	+	0	1044									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		CCTTCGCCTTCGTCTGCCACC	0.617																																						ENST00000420502.1																			0				breast(1)|cervix(1)|endometrium(1)|lung(3)	6								solute carrier family 38, member 3	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)						59	66	63					3																	50255384		2156	4282	6438			10991				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	g.chr3:50255384C>T	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"Solute carriers"	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50255384C>T			Somatic								WXS	Illumina GAIIx	Phase_I	Q99624	S38A3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	0	1044	+									RNA	SNP	ENST00000420502.1	37																																																																																						0.617	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		12	37	0	0	0	1	0	12	37					T	50255384	C	T	50255384	1	4	48	0	1	0	0	0	0	0	0	0	14620	883	31	1		1	SLC38A3	3	50255384	RNA	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	308903	50255384	147767046	956	5424										
ZMYND10	51364	broad.mit.edu	37	chr3	50382591	50382591	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcagctcctgaatgggctcGccctggctgactgtggcatc	13	13	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:50382591G>A	ENST00000231749.3	-	2	1437	c.165C>T	c.(163-165)ggC>ggT	p.G55G	ZMYND10_ENST00000360165.3_Silent_p.G55G|NPRL2_ENST00000493465.1_5'Flank|ZMYND10_ENST00000490675.1_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	55					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAATGGGCTCGCCCTGGCTGA	0.602										TSP Lung(30;0.18)																												ENST00000231749.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14						c.(163-165)ggC>ggT		zinc finger, MYND-type containing 10							120	98	106					3																	50382591		2203	4300	6503	SO:0001819	synonymous_variant	51364					cytoplasm	protein binding|zinc ion binding	g.chr3:50382591G>A	U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"Zinc fingers, MYND-type"	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.165C>T	3.37:g.50382591G>A		TSP Lung(30;0.18)	Somatic				ZMYND10_ENST00000360165.3_Silent_p.G55G|ZMYND10-AS1_ENST00000440013.1_RNA	p.G55G	NM_015896.2	NP_056980.2	WXS	Illumina GAIIx	Phase_I	O75800	ZMY10_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	1437	-			55					A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Silent	SNP	ENST00000231749.3	37	c.165C>T	CCDS2825.1																																																																																				0.602	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		7	18	0	0	0	1	0	7	18					A	50382591	G	A	50382591	2	1	48	1	0	0	0	0	0	0	0	1	17720	1074	38	1		1	ZMYND10	3	50382591	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	127207	50382591	147639839	957	5425										
DOCK3	1795	broad.mit.edu	37	chr3	51413217	51413217	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccctgttccagcaagtggtCggagcctgcaaaccctgcag	12	14	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51413217C>T	ENST00000266037.9	+	51	5474	c.5451C>T	c.(5449-5451)gtC>gtT	p.V1817V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1817					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V1817V(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)		AGCAAGTGGTCGGAGCCTGCA	0.517																																						ENST00000266037.9																			1	Substitution - coding silent(1)	p.V1817V(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5449-5451)gtC>gtT		dedicator of cytokinesis 3							125	139	134					3																	51413217		2059	4177	6236	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51413217C>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.5451C>T	3.37:g.51413217C>T			Somatic					p.V1817V	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	5474	+			1817					O15017	Silent	SNP	ENST00000266037.9	37	c.5451C>T	CCDS46835.1																																																																																				0.517	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		28	62	0	0	0	1	0	28	62					T	51413217	C	T	51413217	2	4	48	1	0	0	0	0	0	0	0	1	4690	871	31	1		1	DOCK3	3	51413217	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1030626	51413217	146609213	958	5426										
VPRBP	9730	broad.mit.edu	37	chr3	51500889	51500889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcatacactctggatcagctCgacctaccaagagaagaggg	11	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51500889C>T	ENST00000335891.5	-	3	200	c.191G>A	c.(190-192)cGa>cAa	p.R64Q				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	64					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGGATCAGCTCGACCTACCAA	0.453																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(190-192)cGa>cAa		Vpr (HIV-1) binding protein							78	75	76					3																	51500889		1931	4145	6076	SO:0001583	missense	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51500889C>T	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.191G>A	3.37:g.51500889C>T	ENSP00000338857:p.Arg64Gln		Somatic					p.R64Q			WXS	Illumina GAIIx	Phase_I	Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	3	200	-			64					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37	c.191G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.589561	0.96590	.	.	ENSG00000145041	ENST00000335891;ENST00000504652	T;T	0.64991	-0.13;0.31	5.7	5.7	0.88788	.	0.058489	0.64402	N	0.000002	T	0.79724	0.4495	M	0.74467	2.265	0.35964	D	0.834844	D	0.69078	0.997	D	0.69479	0.964	D	0.84509	0.0621	10	0.87932	D	0	-2.2852	19.4156	0.94697	0.0:1.0:0.0:0.0	.	64	Q9Y4B6	VPRBP_HUMAN	Q	64	ENSP00000338857:R64Q;ENSP00000421724:R64Q	ENSP00000338857:R64Q	R	-	2	0	VPRBP	51475929	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.219000	0.78000	2.686000	0.91538	0.591000	0.81541	CGA		0.453	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		20	21	0	0	0	1	0	20	21					T	51500889	C	T	51500889	3	4	48	1	0	0	0	0	1	0	0	0	17200	884	31	1	4253	1	VPRBP	3	51500889	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	87672	51500889	146521541	959	5427										
VPRBP	9730	broad.mit.edu	37	chr3	51517794	51517794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccttttcccactgctccagCagggtagtgagctcagcttt	9	13	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51517794C>T	ENST00000335891.5	-	1	60	c.51G>A	c.(49-51)ctG>ctA	p.L17L				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	17					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ACTGCTCCAGCAGGGTAGTGA	0.393																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(49-51)ctG>ctA		Vpr (HIV-1) binding protein							143	130	134					3																	51517794		1917	4132	6049	SO:0001819	synonymous_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51517794C>T	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.51G>A	3.37:g.51517794C>T			Somatic					p.L17L			WXS	Illumina GAIIx	Phase_I	Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	1	60	-			17					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	37	c.51G>A																																																																																					0.393	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		34	59	0	0	0	1	0	34	59					T	51517794	C	T	51517794	2	4	48	1	0	0	0	0	0	0	0	1	17200	697	25	3		3	VPRBP	3	51517794	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	16905	51517794	146504636	960	5428										
GRM2	2912	broad.mit.edu	37	chr3	51749334	51749334	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgaagagtgtgcagccgggCgaagtctgctgctggctctg	17	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51749334C>T	ENST00000395052.3	+	4	1779	c.1545C>T	c.(1543-1545)ggC>ggT	p.G515G	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	515					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)		TGCAGCCGGGCGAAGTCTGCT	0.632																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1543-1545)ggC>ggT		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						32	30	30					3																	51749334		2203	4300	6503	SO:0001819	synonymous_variant	2912				synaptic transmission	integral to plasma membrane		g.chr3:51749334C>T	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1545C>T	3.37:g.51749334C>T			Somatic				GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	p.G515G	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	1779	+			515					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	ENST00000395052.3	37	c.1545C>T	CCDS2834.1																																																																																				0.632	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			15	20	0	0	0	1	0	15	20					T	51749334	C	T	51749334	2	4	48	1	0	0	0	0	0	0	0	1	6806	755	27	1		1	GRM2	3	51749334	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	231540	51749334	146273096	961	5429										
IQCF1	132141	broad.mit.edu	37	chr3	51928930	51928930	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctttattgagaagggaatAcactctgtcacaatgcaagg	9	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51928930A>G	ENST00000310914.5	-	4	656	c.594T>C	c.(592-594)tgT>tgC	p.C198C		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	198										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)		AGAAGGGAATACACTCTGTCA	0.498																																						ENST00000310914.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12						c.(592-594)tgT>tgC		IQ motif containing F1							74	74	74					3																	51928930		2203	4300	6503	SO:0001819	synonymous_variant	132141							g.chr3:51928930A>G	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.594T>C	3.37:g.51928930A>G			Somatic					p.C198C	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	656	-			198					Q8N711	Silent	SNP	ENST00000310914.5	37	c.594T>C	CCDS2836.1																																																																																				0.498	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397		33	55	0	0	0	1	0	33	55					G	51928930	A	G	51928930	2	3	48	1	0	0	0	0	0	0	0	1	7816	389	14	4		4	IQCF1	3	51928930	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	179596	51928930	146093500	962	5430										
PPM1M	132160	broad.mit.edu	37	chr3	52283790	52283790	+	3'UTR	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgacgtctctgtgttcgtgaTtcccttgcacagtcagggcc	11	12	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52283790T>G	ENST00000296487.4	+	0	1608				PPM1M_ENST00000457351.2_Missense_Mutation_p.I447S|PPM1M_ENST00000323588.4_Missense_Mutation_p.I286S|PPM1M_ENST00000409502.3_Missense_Mutation_p.I235S			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M						protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		GTGTTCGTGATTCCCTTGCAC	0.552																																					NSCLC(151;810 2688 34365 49863)	ENST00000323588.4																			0				prostate(1)|urinary_tract(1)	2						c.(856-858)aTt>aGt		protein phosphatase, Mg2+/Mn2+ dependent, 1M							82	71	75					3																	52283790		1568	3582	5150	SO:0001624	3_prime_UTR_variant	132160				protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding	g.chr3:52283790T>G	AK096681	CCDS46840.1	3p21.31	2012-04-17	2010-03-05		ENSG00000164088	ENSG00000164088		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	26506	protein-coding gene	gene with protein product	"protein phosphatase 2C eta"	608979	"protein phosphatase 1M (PP2C domain containing)"			12477932	Standard	NM_001122870		Approved	PP2Ceta, FLJ32332	uc011bed.2	Q96MI6	OTTHUMG00000153046	ENST00000296487.4:c.*391T>G	3.37:g.52283790T>G			Somatic				PPM1M_ENST00000296487.4_3'UTR|PPM1M_ENST00000457351.2_Missense_Mutation_p.I447S|PPM1M_ENST00000409502.3_Missense_Mutation_p.I235S	p.I286S			WXS	Illumina GAIIx	Phase_I	Q96MI6	PPM1M_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)	10	1222	+			0					Q8N8J9|Q96DB8	Missense_Mutation	SNP	ENST00000296487.4	37	c.857T>G		.	.	.	.	.	.	.	.	.	.	T	21.8	4.208236	0.79240	.	.	ENSG00000164088	ENST00000457351;ENST00000409502;ENST00000323588	T;T;T	0.13196	2.61;2.61;2.61	5.04	5.04	0.67666	.	0.000000	0.56097	D	0.000038	T	0.32912	0.0845	L	0.58810	1.83	0.54753	D	0.999982	D;D	0.76494	0.998;0.999	D;D	0.80764	0.986;0.994	T	0.03514	-1.1029	10	0.87932	D	0	-8.053	13.4901	0.61390	0.0:0.0:0.0:1.0	.	447;157	B7XGB9;Q96MI6-3	.;.	S	447;235;286	ENSP00000393747:I447S;ENSP00000387046:I235S;ENSP00000319894:I286S	ENSP00000319894:I286S	I	+	2	0	PPM1M	52258830	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.069000	0.64370	2.117000	0.64856	0.459000	0.35465	ATT		0.552	PPM1M-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000329230.2	NM_144641		7	39	0	0	0	1	0	7	39					G	52283790	T	G	52283790	1	3	48	0	1	0	0	0	0	0	0	0	12357	1493	52	4		4	PPM1M	3	52283790	3'UTR	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	354860	52283790	145738640	963	5431										
SEMA3G	56920	broad.mit.edu	37	chr3	52469702	52469702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgcctagctccagccctgCccagctcttgcccctggcct	8	20	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52469702C>T	ENST00000231721.2	-	16	2265	c.2266G>A	c.(2266-2268)Gca>Aca	p.A756T		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	756					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TCCAGCCCTGCCCAGCTCTTG	0.672																																						ENST00000231721.2																			0				kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18						c.(2266-2268)Gca>Aca		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G							57	64	61					3																	52469702		2203	4299	6502	SO:0001583	missense	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52469702C>T		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.2266G>A	3.37:g.52469702C>T	ENSP00000231721:p.Ala756Thr		Somatic					p.A756T	NM_020163.1	NP_064548.1	WXS	Illumina GAIIx	Phase_I	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	16	2265	-			756					Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	ENST00000231721.2	37	c.2266G>A	CCDS2856.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115997	0.37339	.	.	ENSG00000010319	ENST00000231721	T	0.78816	-1.21	4.6	2.71	0.32032	.	0.709741	0.13400	N	0.390695	T	0.67163	0.2864	L	0.51422	1.61	0.29728	N	0.838077	B	0.20164	0.042	B	0.17722	0.019	T	0.61681	-0.7013	10	0.52906	T	0.07	.	3.1517	0.06490	0.1535:0.475:0.2734:0.0981	.	756	Q9NS98	SEM3G_HUMAN	T	756	ENSP00000231721:A756T	ENSP00000231721:A756T	A	-	1	0	SEMA3G	52444742	0.018000	0.18449	0.840000	0.33206	0.635000	0.38103	0.053000	0.14184	2.403000	0.81681	0.650000	0.86243	GCA		0.672	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163		9	118	0	0	0	1	0	9	118					T	52469702	C	T	52469702	3	4	48	1	0	0	0	0	1	0	0	0	14045	739	26	3	86	3	SEMA3G	3	52469702	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	185912	52469702	145552728	964	5432										
STAB1	23166	broad.mit.edu	37	chr3	52553522	52553522	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatgagagcctttcctcagaGaaatgtcaccgccgccgccc	9	15	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52553522G>T	ENST00000321725.6	+	50	5253	c.5177G>T	c.(5176-5178)aGa>aTa	p.R1726I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1726	FAS1 6. {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)		TTTCCTCAGAGAAATGTCACC	0.602																																						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.e50-1		stabilin 1							77	79	78					3																	52553522		2202	4300	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.chr3:52553522G>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.5176-1G>T	3.37:g.52553522G>T			Somatic					p.R1726_splice	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)	50	5253	+			1726			FAS1 6.		A7E297|Q8IUH0|Q8IUH1|Q93072	Splice_Site	SNP	ENST00000321725.6	37	c.5175_splice	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436746	0.43224	.	.	ENSG00000010327	ENST00000321725	D	0.91351	-2.83	5.05	1.75	0.24633	FAS1 domain (3);	0.324438	0.32386	N	0.006169	T	0.81336	0.4801	L	0.38175	1.15	0.46260	D	0.99895	B	0.29862	0.259	B	0.21546	0.035	T	0.74253	-0.3725	10	0.52906	T	0.07	.	3.8587	0.08986	0.3522:0.199:0.4489:0.0	.	1726	Q9NY15	STAB1_HUMAN	I	1726	ENSP00000312946:R1726I	ENSP00000312946:R1726I	R	+	2	0	STAB1	52528562	1.000000	0.71417	0.998000	0.56505	0.514000	0.34195	0.656000	0.24948	0.643000	0.30638	0.655000	0.94253	AGA		0.602	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	Missense_Mutation	8	88	1	0	0.000274275	1	0.000292037	8	88					T	52553522	G	T	52553522	5	4	48	1	0	0	0	0	0	0	1	0	15252	956	33	2	5375	2	STAB1	3	52553522	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	83820	52553522	145468908	965	5433										
PBRM1	55193	broad.mit.edu	37	chr3	52610695	52610695	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaatatgcagctccatctcGaacccatactttttcaattc	3	12	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52610695G>A	ENST00000296302.7	-	22	3554	c.3553C>T	c.(3553-3555)Cga>Tga	p.R1185*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R1185*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R1200*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R1153*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R1200*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R1160*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R1185*|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R1160*			Q86U86	PB1_HUMAN	polybromo 1	1185	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)	p.R1185*(3)|p.R1153*(1)		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)		GCTCCATCTCGAACCCATACT	0.338			"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"		4	Substitution - Nonsense(4)	p.R1185*(3)|p.R1153*(1)	kidney(4)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3457-3459)Cga>Tga		polybromo 1							76	73	74					3																	52610695		2202	4300	6502	SO:0001587	stop_gained	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.chr3:52610695G>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.3553C>T	3.37:g.52610695G>A	ENSP00000296302:p.Arg1185*		Somatic				SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R1200*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R1160*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R1200*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.R1185*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R1160*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R1185*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R1185*	p.R1153*			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)	21	3459	-			1185					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37	c.3457C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.826239	0.98968	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	.	.	.	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1593	15.0475	0.71838	0.0:0.0:0.8573:0.1427	.	.	.	.	X	1153;1160;1185;1185;1185;1160;1200;1200;1184	.	ENSP00000296302:R1185X	R	-	1	2	PBRM1	52585735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.391000	0.66266	2.664000	0.90586	0.591000	0.81541	CGA		0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		9	25	0	0	0	1	0	9	25					A	52610695	G	A	52610695	4	1	48	1	0	0	0	0	0	1	0	0	11500	1066	37	1	1383	1	PBRM1	3	52610695	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	57173	52610695	145411735	966	5434										
PBRM1	55193	broad.mit.edu	37	chr3	52643768	52643768	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttggccatcatgtgacttcGaattttttccatgtccatgg	9	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52643768G>A	ENST00000296302.7	-	16	2129	c.2128C>T	c.(2128-2130)Cga>Tga	p.R710*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R710*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R725*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R678*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R725*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R710*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R710*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R710*			Q86U86	PB1_HUMAN	polybromo 1	710	Bromo 5. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R710*(2)|p.R678*(1)		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)		ATGTGACTTCGAATTTTTTCC	0.438			"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"		3	Substitution - Nonsense(3)	p.R710*(2)|p.R678*(1)	kidney(3)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(2032-2034)Cga>Tga		polybromo 1							147	143	144					3																	52643768		2203	4300	6503	SO:0001587	stop_gained	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.chr3:52643768G>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.2128C>T	3.37:g.52643768G>A	ENSP00000296302:p.Arg710*		Somatic				PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R725*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R710*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R725*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.R710*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R710*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R710*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R710*	p.R678*			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)	15	2034	-			710		R -> C.	Bromo 5.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37	c.2032C>T		.	.	.	.	.	.	.	.	.	.	G	38	7.040996	0.98021	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	6.17	3.13	0.36017	.	0.055075	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.7405	15.7	0.77536	0.0:0.0:0.6414:0.3586	.	.	.	.	X	678;710;710;710;710;710;725;725;710;669	.	ENSP00000296302:R710X	R	-	1	2	PBRM1	52618808	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.705000	0.25675	1.587000	0.49959	0.655000	0.94253	CGA		0.438	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		24	70	0	0	0	1	0	24	70					A	52643768	G	A	52643768	4	1	48	1	0	0	0	0	0	1	0	0	11500	1066	37	1	2832	1	PBRM1	3	52643768	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	33073	52643768	145378662	967	5435										
CACNA1D	776	broad.mit.edu	37	chr3	53764549	53764549	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaacactgctcagaaagaaGaagcggaagaaaaggagagg	14	5	1	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:53764549G>T	ENST00000350061.5	+	16	2813	c.2302G>T	c.(2302-2304)Gaa>Taa	p.E768*	CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.E768*|CACNA1D_ENST00000288139.4_Nonsense_Mutation_p.E788*	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	768					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)	TCAGAAAGAAGAAGCGGAAGA	0.453																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(2362-2364)Gaa>Taa		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						128	123	125					3																	53764549		2203	4300	6503	SO:0001587	stop_gained	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53764549G>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.2302G>T	3.37:g.53764549G>T	ENSP00000288133:p.Glu768*		Somatic				CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.E768*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.E768*	p.E788*	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)	17	2480	+			768					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Nonsense_Mutation	SNP	ENST00000350061.5	37	c.2362G>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	42	9.680320	0.99237	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	.	.	.	5.8	5.8	0.92144	.	0.115277	0.39985	N	0.001209	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	.	.	.	X	768;788;768;461	.	ENSP00000288139:E788X	E	+	1	0	CACNA1D	53739589	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.992000	0.88273	2.735000	0.93741	0.655000	0.94253	GAA		0.453	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		15	39	1	0	1.05317e-09	1	1.27574e-09	15	39					T	53764549	G	T	53764549	4	4	48	1	0	0	0	0	0	1	0	0	2543	943	33	2	2536	2	CACNA1D	3	53764549	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1120781	53764549	144257881	968	5436										
CACNA1D	776	broad.mit.edu	37	chr3	53783418	53783418	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctttcttcatgatgaacatCtttgtgggctttgtcatcgt	9	8	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:53783418C>A	ENST00000350061.5	+	27	3949	c.3438C>A	c.(3436-3438)atC>atA	p.I1146I	CACNA1D_ENST00000422281.2_Silent_p.I1146I|CACNA1D_ENST00000288139.4_Silent_p.I1166I|CACNA1D_ENST00000540742.1_Silent_p.I53I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1146	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)	TGATGAACATCTTTGTGGGCT	0.413																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(3496-3498)atC>atA		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						154	133	140					3																	53783418		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.chr3:53783418C>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3438C>A	3.37:g.53783418C>A			Somatic				CACNA1D_ENST00000540742.1_Silent_p.I53I|CACNA1D_ENST00000422281.2_Silent_p.I1146I|CACNA1D_ENST00000350061.5_Silent_p.I1146I	p.I1166I	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)	28	3616	+			1146					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.3498C>A	CCDS46848.1																																																																																				0.413	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		12	65	1	0	1.08611e-07	1	1.25818e-07	12	65					A	53783418	C	A	53783418	2	1	48	1	0	0	0	0	0	0	0	1	2543	903	32	2		2	CACNA1D	3	53783418	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	18869	53783418	144239012	969	5437										
ACTR8	93973	broad.mit.edu	37	chr3	53904164	53904164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtacatcttctttttggtgtCgtcagatgctgaaaagacag	10	7	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:53904164C>T	ENST00000335754.3	-	12	1676	c.1576G>A	c.(1576-1578)Gac>Aac	p.D526N	ACTR8_ENST00000488802.1_5'UTR|ACTR8_ENST00000482349.1_Missense_Mutation_p.D415N|ACTR8_ENST00000231909.7_Missense_Mutation_p.D231N	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	526					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)		TTTTTGGTGTCGTCAGATGCT	0.428																																						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.(1576-1578)Gac>Aac		ARP8 actin-related protein 8 homolog (yeast)							166	145	152					3																	53904164		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.chr3:53904164C>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.1576G>A	3.37:g.53904164C>T	ENSP00000336842:p.Asp526Asn		Somatic				ACTR8_ENST00000482349.1_Missense_Mutation_p.D415N|ACTR8_ENST00000488802.1_5'UTR|ACTR8_ENST00000231909.7_Missense_Mutation_p.D231N	p.D526N	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)	12	1676	-			526					B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	c.1576G>A	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319398	0.95682	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000231909	D;D;D	0.98120	-3.69;-3.69;-4.73	5.18	5.18	0.71444	.	0.108957	0.64402	D	0.000007	D	0.97949	0.9325	L	0.55103	1.725	0.80722	D	1	D;P	0.67145	0.996;0.954	P;B	0.61275	0.886;0.311	D	0.98886	1.0771	10	0.87932	D	0	-12.9198	17.2355	0.86997	0.0:1.0:0.0:0.0	.	526;231	Q9H981;Q9H981-3	ARP8_HUMAN;.	N	526;415;231	ENSP00000336842:D526N;ENSP00000419429:D415N;ENSP00000231909:D231N	ENSP00000231909:D231N	D	-	1	0	ACTR8	53879204	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.464000	0.80887	2.574000	0.86865	0.655000	0.94253	GAC		0.428	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		20	47	0	0	0	1	0	20	47					T	53904164	C	T	53904164	3	4	48	1	0	0	0	0	1	0	0	0	217	884	31	1	306	1	ACTR8	3	53904164	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	120746	53904164	144118266	970	5438										
CACNA2D3	55799	broad.mit.edu	37	chr3	54604114	54604114	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atacacttggggatgatgacTtcttcaacataattgctgtg	9	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:54604114T>G	ENST00000474759.1	+	8	919	c.871T>G	c.(871-873)Ttc>Gtc	p.F291V	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.F291V|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.F291V|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.F197V	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	291	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					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)	GGATGATGACTTCTTCAACAT	0.443																																						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.(871-873)Ttc>Gtc		calcium channel, voltage-dependent, alpha 2/delta subunit 3							237	226	229					3																	54604114		2039	4188	6227	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54604114T>G	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.871T>G	3.37:g.54604114T>G	ENSP00000419101:p.Phe291Val		Somatic				CACNA2D3_ENST00000490478.1_Missense_Mutation_p.F197V|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.F291V|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.F291V	p.F291V	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)	8	919	+			291			VWFA.		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.871T>G	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.509038	0.85282	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.29	5.29	0.74685	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	M	0.82630	2.6	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.44174	-0.9345	10	0.72032	D	0.01	.	15.5269	0.75919	0.0:0.0:0.0:1.0	.	291	Q8IZS8	CA2D3_HUMAN	V	291;291;291;197;197;196	ENSP00000389506:F291V;ENSP00000419101:F291V;ENSP00000288197:F291V;ENSP00000417279:F197V	ENSP00000288197:F291V	F	+	1	0	CACNA2D3	54579154	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.945000	0.87732	2.128000	0.65567	0.528000	0.53228	TTC		0.443	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			10	101	0	0	0	1	0	10	101					G	54604114	T	G	54604114	3	3	48	1	0	0	0	0	1	0	0	0	2552	1609	56	4	901	4	CACNA2D3	3	54604114	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	699950	54604114	143418316	971	5439										
CACNA2D3	55799	broad.mit.edu	37	chr3	54676264	54676264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaatacaattggccagatcGaaaggtaagttgatgctgat	10	5	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:54676264G>A	ENST00000474759.1	+	11	1211	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R388Q|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R388Q|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R294Q|ESRG_ENST00000583516.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	388	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					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)	TGGCCAGATCGAAAGGTAAGT	0.463																																						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.(1162-1164)cGa>cAa		calcium channel, voltage-dependent, alpha 2/delta subunit 3							76	72	74					3																	54676264		2009	4163	6172	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54676264G>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.1163G>A	3.37:g.54676264G>A	ENSP00000419101:p.Arg388Gln		Somatic				CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R294Q|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R388Q|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R388Q	p.R388Q	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)	11	1211	+			388			VWFA.		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.1163G>A	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	g	34	5.295235	0.95574	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	5.92	5.92	0.95590	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	M	0.69523	2.12	0.41896	D	0.990397	D	0.76494	0.999	D	0.73708	0.981	T	0.01583	-1.1319	10	0.22706	T	0.39	0.0012	18.5122	0.90921	0.0:0.0:1.0:0.0	.	388	Q8IZS8	CA2D3_HUMAN	Q	388;388;388;294;294;293	ENSP00000389506:R388Q;ENSP00000419101:R388Q;ENSP00000288197:R388Q;ENSP00000417279:R294Q	ENSP00000288197:R388Q	R	+	2	0	CACNA2D3	54651304	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.029000	0.88807	2.794000	0.96219	0.651000	0.88453	CGA		0.463	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			4	8	0	0	0	1	0	4	8					A	54676264	G	A	54676264	3	1	48	1	0	0	0	0	1	0	0	0	2552	1058	37	1	1205	1	CACNA2D3	3	54676264	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	72150	54676264	143346166	972	5440										
ERC2	26059	broad.mit.edu	37	chr3	56468777	56468777	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcctccatatacagctcgatTtgtagcccttcccagagtca	7	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:56468777T>G	ENST00000288221.6	-	2	514	c.259A>C	c.(259-261)Aat>Cat	p.N87H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	87						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ACAGCTCGATTTGTAGCCCTT	0.502																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(259-261)Aat>Cat		ELKS/RAB6-interacting/CAST family member 2							199	191	194					3																	56468777		1993	4172	6165	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468777T>G	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.259A>C	3.37:g.56468777T>G	ENSP00000288221:p.Asn87His		Somatic					p.N87H	NM_015576.1	NP_056391.1	WXS	Illumina GAIIx	Phase_I	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	2	514	-			87					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.259A>C	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178943	0.57692	.	.	ENSG00000187672	ENST00000288221	T	0.31510	1.49	5.88	5.88	0.94601	.	0.086790	0.85682	D	0.000000	T	0.22205	0.0535	N	0.08118	0	0.40179	D	0.977264	P	0.51791	0.948	B	0.44315	0.446	T	0.14420	-1.0473	10	0.72032	D	0.01	-30.1971	16.3015	0.82820	0.0:0.0:0.0:1.0	.	87	O15083	ERC2_HUMAN	H	87	ENSP00000288221:N87H	ENSP00000288221:N87H	N	-	1	0	ERC2	56443817	1.000000	0.71417	0.976000	0.42696	0.922000	0.55478	7.665000	0.83852	2.239000	0.73571	0.533000	0.62120	AAT		0.502	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		50	107	0	0	0	1	0	50	107					G	56468777	T	G	56468777	3	3	48	1	0	0	0	0	1	0	0	0	5213	1841	64	4	2668	4	ERC2	3	56468777	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1792513	56468777	141553653	973	5441										
ERC2	26059	broad.mit.edu	37	chr3	56468995	56468995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacgaggggatctggaagggCtaccttccagattggtgatt	14	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:56468995C>T	ENST00000288221.6	-	2	296	c.41G>A	c.(40-42)aGc>aAc	p.S14N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	14						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCTGGAAGGGCTACCTTCCAG	0.463																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(40-42)aGc>aAc		ELKS/RAB6-interacting/CAST family member 2							109	103	105					3																	56468995		1902	4128	6030	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468995C>T	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.41G>A	3.37:g.56468995C>T	ENSP00000288221:p.Ser14Asn		Somatic					p.S14N	NM_015576.1	NP_056391.1	WXS	Illumina GAIIx	Phase_I	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	2	296	-			14					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.41G>A	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920490	0.73213	.	.	ENSG00000187672	ENST00000288221	T	0.45668	0.89	5.46	4.58	0.56647	.	0.078589	0.85682	D	0.000000	T	0.29458	0.0734	L	0.29908	0.895	0.44579	D	0.997542	P	0.37466	0.596	B	0.26864	0.074	T	0.06954	-1.0798	10	0.40728	T	0.16	-20.3517	16.552	0.84474	0.0:0.8693:0.1307:0.0	.	14	O15083	ERC2_HUMAN	N	14	ENSP00000288221:S14N	ENSP00000288221:S14N	S	-	2	0	ERC2	56444035	1.000000	0.71417	0.320000	0.25306	0.959000	0.62525	7.744000	0.85034	1.402000	0.46780	0.655000	0.94253	AGC		0.463	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		7	33	0	0	0	1	0	7	33					T	56468995	C	T	56468995	3	4	48	1	0	0	0	0	1	0	0	0	5213	797	28	3	2886	3	ERC2	3	56468995	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	218	56468995	141553435	974	5442										
C3orf63	23272	broad.mit.edu	37	chr3	56680718	56680718	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgaattaaattaatcaattCtttgactctatccttatcat	2	8	4	2	rs373875530		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:56680718C>A	ENST00000493960.2	-	14	2057	c.2047G>T	c.(2047-2049)Gaa>Taa	p.E683*	FAM208A_ENST00000431842.2_Nonsense_Mutation_p.E287*|FAM208A_ENST00000355628.5_Nonsense_Mutation_p.E683*	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	683							poly(A) RNA binding (GO:0044822)	p.E287*(1)|p.E683*(1)		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						TTAATCAATTCTTTGACTCTA	0.358																																						ENST00000431842.2																			2	Substitution - Nonsense(2)	p.E287*(1)|p.E683*(1)	large_intestine(2)	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.(859-861)Gaa>Taa		family with sequence similarity 208, member A		C	stop/GLU,stop/GLU	0,4406		0,0,2203	125	119	121		2047,859	5.3	1	3		121	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	FAM208A	NM_001112736.1,NM_015224.3	,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	,	683/1513,287/1234	56680718	1,13005	2203	4300	6503	SO:0001587	stop_gained	23272							g.chr3:56680718C>A	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.2047G>T	3.37:g.56680718C>A	ENSP00000417509:p.Glu683*		Somatic				FAM208A_ENST00000355628.5_Nonsense_Mutation_p.E683*|FAM208A_ENST00000493960.2_Nonsense_Mutation_p.E683*	p.E287*	NM_015224.3	NP_056039.2	WXS	Illumina GAIIx	Phase_I	Q9UK61	CC063_HUMAN			7	1783	-			683					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Nonsense_Mutation	SNP	ENST00000493960.2	37	c.859G>T	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	40	8.373000	0.98781	0.0	1.16E-4	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	.	.	.	5.26	5.26	0.73747	.	0.091263	0.47852	D	0.000204	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-17.331	19.0748	0.93156	0.0:1.0:0.0:0.0	.	.	.	.	X	287;683;683	.	ENSP00000347845:E683X	E	-	1	0	C3orf63	56655758	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.164000	0.64954	2.733000	0.93635	0.655000	0.94253	GAA		0.358	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		11	24	1	0	1.08611e-07	1	1.25818e-07	11	24					A	56680718	C	A	56680718	4	1	48	1	0	0	0	0	0	1	0	0	2241	922	32	2	3069	2	C3orf63	3	56680718	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	211723	56680718	141341712	975	5443										
FAM3D	131177	broad.mit.edu	37	chr3	58639451	58639451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgctgaagctcatgtagcttCgaataaacatccatgtcgtg	9	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:58639451C>T	ENST00000358781.2	-	3	381	c.71G>A	c.(70-72)cGa>cAa	p.R24Q		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	24					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CATGTAGCTTCGAATAAACAT	0.587																																						ENST00000358781.2																			0				large_intestine(1)|lung(2)	3						c.(70-72)cGa>cAa		family with sequence similarity 3, member D							138	132	134					3																	58639451		2203	4300	6503	SO:0001583	missense	131177				negative regulation of insulin secretion	extracellular region	cytokine activity	g.chr3:58639451C>T	AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.71G>A	3.37:g.58639451C>T	ENSP00000351632:p.Arg24Gln		Somatic					p.R24Q	NM_138805.2	NP_620160.1	WXS	Illumina GAIIx	Phase_I	Q96BQ1	FAM3D_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)	3	381	-			24					Q547G2	Missense_Mutation	SNP	ENST00000358781.2	37	c.71G>A	CCDS2893.1	.	.	.	.	.	.	.	.	.	.	C	6.641	0.486658	0.12641	.	.	ENSG00000198643	ENST00000358781;ENST00000483787;ENST00000498347	T;T;T	0.50277	0.75;2.03;1.6	4.26	0.304	0.15796	.	0.464939	0.20236	N	0.096395	T	0.22859	0.0552	L	0.39898	1.24	0.09310	N	1	P	0.39352	0.669	B	0.21708	0.036	T	0.13098	-1.0522	10	0.18710	T	0.47	-13.5178	2.7769	0.05350	0.2045:0.4615:0.0:0.334	.	24	Q96BQ1	FAM3D_HUMAN	Q	24	ENSP00000351632:R24Q;ENSP00000417099:R24Q;ENSP00000418982:R24Q	ENSP00000351632:R24Q	R	-	2	0	FAM3D	58614491	0.001000	0.12720	0.002000	0.10522	0.009000	0.06853	0.200000	0.17257	0.169000	0.19679	0.435000	0.28638	CGA		0.587	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353494.1	NM_138805		36	84	0	0	0	1	0	36	84					T	58639451	C	T	58639451	3	4	48	1	0	0	0	0	1	0	0	0	5567	884	31	1	635	1	FAM3D	3	58639451	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1958733	58639451	139382979	976	5444										
CADPS	8618	broad.mit.edu	37	chr3	62423848	62423848	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acatcctgagaatggcggacGaaagtcacgtaggcgtcggc	14	10	1	1	rs370160083		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:62423848G>A	ENST00000383710.4	-	28	4057	c.3708C>T	c.(3706-3708)ttC>ttT	p.F1236F	CADPS_ENST00000283269.9_Silent_p.F1197F|CADPS_ENST00000357948.3_Silent_p.F1157F	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1236	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AATGGCGGACGAAAGTCACGT	0.448																																						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.(3706-3708)ttC>ttT		Ca++-dependent secretion activator		G	,,	0,4406		0,0,2203	86	81	83		3708,3471,3591	4.7	1	3		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CADPS	NM_003716.3,NM_183393.2,NM_183394.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	1236/1354,1157/1275,1197/1315	62423848	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62423848G>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.3708C>T	3.37:g.62423848G>A			Somatic				CADPS_ENST00000283269.9_Silent_p.F1197F|CADPS_ENST00000357948.3_Silent_p.F1157F	p.F1236F	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)	28	4057	-		Lung SC(41;0.0452)	1236			Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.3708C>T	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.693|6.693	0.496561|0.496561	0.12762|0.12762	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163618|ENSG00000163618	ENST00000466621|ENST00000473635	.|.	.|.	.|.	5.65|5.65	4.68|4.68	0.58851|0.58851	.|.	.|.	.|.	.|.	.|.	T|T	0.54775|0.54775	0.1879|0.1879	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53308|0.53308	-0.8457|-0.8457	4|4	.|.	.|.	.|.	.|.	5.1284|5.1284	0.14897|0.14897	0.4262:0.0:0.5737:0.0|0.4262:0.0:0.5737:0.0	.|.	.|.	.|.	.|.	C|L	137|228	.|.	.|.	R|S	-|-	1|2	0|0	CADPS|CADPS	62398888|62398888	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.397000|4.397000	0.59690|0.59690	1.266000|1.266000	0.44231|0.44231	0.644000|0.644000	0.83932|0.83932	CGT|TCG		0.448	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		25	40	0	0	0	1	0	25	40					A	62423848	G	A	62423848	2	1	48	1	0	0	0	0	0	0	0	1	2572	1049	37	1		1	CADPS	3	62423848	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3784397	62423848	135598582	977	5445										
CADPS	8618	broad.mit.edu	37	chr3	62477118	62477118	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaagtggggcaaacaggtcTtgcaggtgtttgtgaaattt	13	5	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:62477118T>G	ENST00000383710.4	-	21	3271	c.2922A>C	c.(2920-2922)caA>caC	p.Q974H	CADPS_ENST00000283269.9_Missense_Mutation_p.Q984H|CADPS_ENST00000357948.3_Missense_Mutation_p.Q944H	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	974	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				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)		CAAACAGGTCTTGCAGGTGTT	0.428																																						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.(2920-2922)caA>caC		Ca++-dependent secretion activator							135	131	132					3																	62477118		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62477118T>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.2922A>C	3.37:g.62477118T>G	ENSP00000373215:p.Gln974His		Somatic				CADPS_ENST00000283269.9_Missense_Mutation_p.Q984H|CADPS_ENST00000357948.3_Missense_Mutation_p.Q944H	p.Q974H	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)	21	3271	-		Lung SC(41;0.0452)	974			Interaction with DRD2.|MHD1.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.2922A>C	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078056	0.76528	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.32753	1.44;1.44;1.44	5.79	1.21	0.21127	Munc13 homology 1 (1);	0.121611	0.56097	D	0.000024	T	0.47488	0.1448	M	0.65975	2.015	0.80722	D	1	D;D;P;D	0.76494	0.999;0.995;0.947;0.98	D;D;P;P	0.77004	0.968;0.989;0.453;0.891	T	0.32798	-0.9893	10	0.36615	T	0.2	.	10.2711	0.43483	0.0:0.3448:0.0:0.6552	.	944;984;974;974	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	H	974;974;944;984	ENSP00000373215:Q974H;ENSP00000350632:Q944H;ENSP00000283269:Q984H	ENSP00000283269:Q984H	Q	-	3	2	CADPS	62452158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.124000	0.31320	0.323000	0.23307	0.533000	0.62120	CAA		0.428	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		14	83	0	0	0	1	0	14	83					G	62477118	T	G	62477118	3	3	48	1	0	0	0	0	1	0	0	0	2572	1606	56	4	1179	4	CADPS	3	62477118	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	53270	62477118	135545312	978	5446										
CADPS	8618	broad.mit.edu	37	chr3	62535683	62535683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgtgactgccccgtggcccGatacatggcctggacccaca	12	15	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:62535683G>A	ENST00000383710.4	-	11	2210	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	CADPS_ENST00000283269.9_Missense_Mutation_p.R621W|CADPS_ENST00000357948.3_Missense_Mutation_p.R621W	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	621	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		CCCGTGGCCCGATACATGGCC	0.577																																						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.(1861-1863)Cgg>Tgg		Ca++-dependent secretion activator							137	125	129					3																	62535683		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62535683G>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.1861C>T	3.37:g.62535683G>A	ENSP00000373215:p.Arg621Trp		Somatic				CADPS_ENST00000283269.9_Missense_Mutation_p.R621W|CADPS_ENST00000357948.3_Missense_Mutation_p.R621W	p.R621W	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	2210	-		Lung SC(41;0.0452)	621			PH.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.1861C>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036731	0.75617	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000542833	T;T;T;T	0.76316	0.48;0.5;0.51;-1.01	4.71	3.8	0.43715	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.86814	0.6023	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.994;0.995;0.996	D	0.88064	0.2796	10	0.87932	D	0	.	12.1808	0.54211	0.0:0.0:0.6792:0.3208	.	621;621;621;621	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	W	621;621;621;621;116	ENSP00000373215:R621W;ENSP00000350632:R621W;ENSP00000283269:R621W;ENSP00000439528:R116W	ENSP00000283269:R621W	R	-	1	2	CADPS	62510723	1.000000	0.71417	0.960000	0.40013	0.969000	0.65631	3.037000	0.49775	1.283000	0.44513	0.585000	0.79938	CGG		0.577	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		40	76	0	0	0	1	0	40	76					A	62535683	G	A	62535683	3	1	48	1	0	0	0	0	1	0	0	0	2572	1057	37	1	2353	1	CADPS	3	62535683	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	58565	62535683	135486747	979	5447										
PRICKLE2	166336	broad.mit.edu	37	chr3	64084736	64084736	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcccaatcatattaagaaatGatacagtttttgctcttctg	5	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:64084736G>T	ENST00000295902.6	-	8	3111	c.2526C>A	c.(2524-2526)atC>atA	p.I842I	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.I898I|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	842					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.I842I(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ATTAAGAAATGATACAGTTTT	0.433																																						ENST00000295902.6																			1	Substitution - coding silent(1)	p.I842I(1)	ovary(1)	breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2524-2526)atC>atA		prickle homolog 2 (Drosophila)							99	101	101					3																	64084736		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64084736G>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.2526C>A	3.37:g.64084736G>T			Somatic				RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.I898I	p.I842I	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	3111	-		Lung NSC(201;0.136)	842					Q0VF44	Silent	SNP	ENST00000295902.6	37	c.2526C>A	CCDS2902.1																																																																																				0.433	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		18	59	1	0	0.000958276	1	0.00100963	18	59					T	64084736	G	T	64084736	2	4	48	1	0	0	0	0	0	0	0	1	12499	1280	45	2		2	PRICKLE2	3	64084736	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1549053	64084736	133937694	980	5448										
PRICKLE2	166336	broad.mit.edu	37	chr3	64085004	64085004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattctgcaaagccaggtccGacacagtcctagggcactgg	11	13	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:64085004G>A	ENST00000295902.6	-	8	2843	c.2258C>T	c.(2257-2259)tCg>tTg	p.S753L	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S809L|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	753					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)		AGCCAGGTCCGACACAGTCCT	0.592																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2257-2259)tCg>tTg		prickle homolog 2 (Drosophila)							52	55	54					3																	64085004		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085004G>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2258C>T	3.37:g.64085004G>A	ENSP00000295902:p.Ser753Leu		Somatic				RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S809L	p.S753L	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	2843	-		Lung NSC(201;0.136)	753					Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.2258C>T	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.431043	0.62844	.	.	ENSG00000163637	ENST00000295902	D	0.87103	-2.21	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000007	D	0.86916	0.6048	M	0.68317	2.08	0.80722	D	1	B	0.26318	0.146	B	0.19148	0.024	D	0.84857	0.0817	10	0.87932	D	0	-12.2454	19.584	0.95484	0.0:0.0:1.0:0.0	.	753	Q7Z3G6	PRIC2_HUMAN	L	753	ENSP00000295902:S753L	ENSP00000295902:S753L	S	-	2	0	PRICKLE2	64060044	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.420000	0.97426	2.698000	0.92095	0.655000	0.94253	TCG		0.592	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		26	24	0	0	0	1	0	26	24					A	64085004	G	A	64085004	3	1	48	1	0	0	0	0	1	0	0	0	12499	1059	37	1	280	1	PRICKLE2	3	64085004	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	268	64085004	133937426	981	5449										
LRIG1	26018	broad.mit.edu	37	chr3	66434631	66434631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgacctgtggcagcacattCgaggcgggccatggtggtgg	18	9	0	1	rs140303911		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:66434631C>T	ENST00000273261.3	-	14	2379	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	LRIG1_ENST00000383703.3_Missense_Mutation_p.E643K|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	619	Ig-like C2-type 2.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.E619K(1)		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)		GCAGCACATTCGAGGCGGGCC	0.582																																						ENST00000383703.3																			1	Substitution - Missense(1)	p.E619K(1)	skin(1)	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.(1927-1929)Gaa>Aaa		leucine-rich repeats and immunoglobulin-like domains 1							175	168	170					3																	66434631		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66434631C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1855G>A	3.37:g.66434631C>T	ENSP00000273261:p.Glu619Lys		Somatic				SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.E619K	p.E643K			WXS	Illumina GAIIx	Phase_I	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	15	2530	-		Lung NSC(201;0.0101)	619			Ig-like C2-type 2.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.1927G>A	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984359	0.93044	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.67865	-0.29;-0.29	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	N	0.20986	0.625	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74348	0.983;0.979;0.979	T	0.75238	-0.3388	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	643;619;619	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	K	619;643;522	ENSP00000273261:E619K;ENSP00000373208:E643K	ENSP00000273261:E619K	E	-	1	0	LRIG1	66517321	1.000000	0.71417	0.181000	0.23098	0.322000	0.28314	7.786000	0.85741	2.941000	0.99782	0.655000	0.94253	GAA		0.582	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		48	100	0	0	0	1	0	48	100					T	66434631	C	T	66434631	3	4	48	1	0	0	0	0	1	0	0	0	8953	893	31	1	1450	1	LRIG1	3	66434631	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2349627	66434631	131587799	982	5450										
FAM19A4	151647	broad.mit.edu	37	chr3	68929922	68929922	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcttgaggcggacatcagcTtacagcacaccattaacacg	10	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:68929922T>G	ENST00000295569.7	-	3	581	c.89A>C	c.(88-90)aAg>aCg	p.K30T	RNA5SP135_ENST00000517019.1_RNA	NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	30						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		GGACATCAGCTTACAGCACAC	0.507																																						ENST00000295569.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10						c.(88-90)aAg>aCg		family with sequence similarity 19 (chemokine (C-C motif)-like), member A4							97	90	92					3																	68929922		2203	4300	6503	SO:0001583	missense	151647					extracellular region		g.chr3:68929922T>G	AY325117	CCDS2907.1	3p14.1	2014-08-14			ENSG00000163377	ENSG00000163377			21591	protein-coding gene	gene with protein product						15028294, 25109685	Standard	NM_182522		Approved	TAFA-4	uc021xah.1	Q96LR4	OTTHUMG00000158744	ENST00000295569.7:c.89A>C	3.37:g.68929922T>G	ENSP00000295569:p.Lys30Thr		Somatic					p.K30T	NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	WXS	Illumina GAIIx	Phase_I	Q96LR4	F19A4_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)	3	581	-		Lung NSC(201;0.0198)	30					A8MVT2	Missense_Mutation	SNP	ENST00000295569.7	37	c.89A>C	CCDS2907.1	.	.	.	.	.	.	.	.	.	.	T	9.341	1.062992	0.19987	.	.	ENSG00000163377	ENST00000295569;ENST00000495737	.	.	.	5.08	3.92	0.45320	.	0.769808	0.12785	N	0.439290	T	0.15522	0.0374	N	0.14661	0.345	0.26358	N	0.977095	P	0.40000	0.698	B	0.32980	0.156	T	0.07009	-1.0795	9	0.16896	T	0.51	-3.0902	10.4429	0.44477	0.0:0.0765:0.0:0.9235	.	30	Q96LR4	F19A4_HUMAN	T	30	.	ENSP00000295569:K30T	K	-	2	0	FAM19A4	69012612	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	3.147000	0.50639	0.791000	0.33826	0.482000	0.46254	AAG		0.507	FAM19A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352002.1	NM_182522		25	58	0	0	0	1	0	25	58					G	68929922	T	G	68929922	3	3	48	1	0	0	0	0	1	0	0	0	5539	1609	56	4	349	4	FAM19A4	3	68929922	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2495291	68929922	129092508	983	5451										
LMOD3	56203	broad.mit.edu	37	chr3	69171469	69171469	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagcagacaagttggccaaGatttcatcttcattaatctc	6	10	5	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:69171469G>T	ENST00000420581.2	-	1	248	c.69C>A	c.(67-69)atC>atA	p.I23I	LMOD3_ENST00000475434.1_Silent_p.I23I|LMOD3_ENST00000489031.1_Silent_p.I23I	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	23						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		AGTTGGCCAAGATTTCATCTT	0.403																																						ENST00000420581.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(67-69)atC>atA		leiomodin 3 (fetal)							55	53	53					3																	69171469		1855	4099	5954	SO:0001819	synonymous_variant	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69171469G>T	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.69C>A	3.37:g.69171469G>T			Somatic				LMOD3_ENST00000489031.1_Silent_p.I23I|LMOD3_ENST00000475434.1_Silent_p.I23I	p.I23I	NM_198271.3	NP_938012.2	WXS	Illumina GAIIx	Phase_I	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	1	248	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	23					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Silent	SNP	ENST00000420581.2	37	c.69C>A	CCDS46862.1																																																																																				0.403	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529		3	11	1	0	0.004672	1	0.00483628	3	11					T	69171469	G	T	69171469	2	4	48	1	0	0	0	0	0	0	0	1	8867	932	33	2		2	LMOD3	3	69171469	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	241547	69171469	128850961	984	5452										
FOXP1	27086	broad.mit.edu	37	chr3	71008510	71008510	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcccttcagcttcctctggaTcgaggggctcttctttgacg	11	13	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:71008510T>C	ENST00000318789.4	-	21	2447	c.1922A>G	c.(1921-1923)gAt>gGt	p.D641G	FOXP1_ENST00000491238.1_Missense_Mutation_p.D643G|FOXP1_ENST00000468577.1_Missense_Mutation_p.D577G|FOXP1_ENST00000498215.1_Missense_Mutation_p.D641G|FOXP1_ENST00000484350.1_Missense_Mutation_p.D565G|FOXP1_ENST00000493089.1_Missense_Mutation_p.D640G|FOXP1_ENST00000475937.1_Missense_Mutation_p.D641G	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	641					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)		TTCCTCTGGATCGAGGGGCTC	0.498			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.(1921-1923)gAt>gGt		forkhead box P1							145	130	135					3																	71008510		2203	4300	6503	SO:0001583	missense	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.chr3:71008510T>C	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.1922A>G	3.37:g.71008510T>C	ENSP00000318902:p.Asp641Gly		Somatic				FOXP1_ENST00000493089.1_Missense_Mutation_p.D640G|FOXP1_ENST00000475937.1_Missense_Mutation_p.D641G|FOXP1_ENST00000498215.1_Missense_Mutation_p.D641G|FOXP1_ENST00000491238.1_Missense_Mutation_p.D643G|FOXP1_ENST00000484350.1_Missense_Mutation_p.D565G|FOXP1_ENST00000468577.1_Missense_Mutation_p.D577G	p.D641G	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)	21	2447	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	641					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.1922A>G	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.104691	0.56291	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	D;D;D;D;D;D;D;D	0.89810	-2.46;-2.46;-2.55;-2.57;-2.46;-2.46;-2.45;-2.31	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.89560	0.6750	L	0.44542	1.39	0.80722	D	1	D;P;P	0.56968	0.978;0.602;0.602	P;B;B	0.53861	0.736;0.416;0.416	D	0.87132	0.2197	10	0.21540	T	0.41	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	640;565;641	G5E9V8;Q8NAN6;Q9H334	.;.;FOXP1_HUMAN	G	641;453;641;537;643;640;641;565;577	ENSP00000318902:D641G;ENSP00000419393:D641G;ENSP00000418225:D537G;ENSP00000420736:D643G;ENSP00000418524:D640G;ENSP00000418102:D641G;ENSP00000417857:D565G;ENSP00000418883:D577G	ENSP00000318902:D641G	D	-	2	0	FOXP1	71091200	1.000000	0.71417	0.941000	0.38009	0.981000	0.71138	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	GAT		0.498	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		21	45	0	0	0	1	0	21	45					C	71008510	T	C	71008510	3	2	48	1	0	0	0	0	1	0	0	0	6034	1435	50	4	115	4	FOXP1	3	71008510	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1837041	71008510	127013920	985	5453										
FOXP1	27086	broad.mit.edu	37	chr3	71021810	71021810	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaacacttgtgaagactaagAttatgacgcactgcattctg	8	8	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:71021810A>C	ENST00000318789.4	-	18	2073	c.1548T>G	c.(1546-1548)aaT>aaG	p.N516K	FOXP1_ENST00000491238.1_Missense_Mutation_p.N518K|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000498215.1_Missense_Mutation_p.N516K|FOXP1_ENST00000484350.1_Missense_Mutation_p.N440K|FOXP1_ENST00000493089.1_Missense_Mutation_p.N515K|FOXP1_ENST00000475937.1_Missense_Mutation_p.N516K	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	516					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)		GAAGACTAAGATTATGACGCA	0.378			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.(1546-1548)aaT>aaG		forkhead box P1							476	385	416					3																	71021810		2203	4300	6503	SO:0001583	missense	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.chr3:71021810A>C	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.1548T>G	3.37:g.71021810A>C	ENSP00000318902:p.Asn516Lys		Somatic				FOXP1_ENST00000493089.1_Missense_Mutation_p.N515K|FOXP1_ENST00000475937.1_Missense_Mutation_p.N516K|FOXP1_ENST00000498215.1_Missense_Mutation_p.N516K|FOXP1_ENST00000491238.1_Missense_Mutation_p.N518K|FOXP1_ENST00000484350.1_Missense_Mutation_p.N440K|FOXP1_ENST00000468577.1_Intron	p.N516K	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)	18	2073	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	516					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.1548T>G	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.018167	0.54576	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350	D;D;D;D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12;-4.12;-4.12;-4.12	5.81	5.81	0.92471	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.98950	0.9643	H	0.99545	4.62	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.97110	0.999;0.991;1.0;0.999	D	0.98837	1.0753	10	0.87932	D	0	.	10.7554	0.46234	0.9292:0.0:0.0708:0.0	.	515;515;440;516	B3KV70;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	K	516;328;516;412;518;515;516;440	ENSP00000318902:N516K;ENSP00000419393:N516K;ENSP00000418225:N412K;ENSP00000420736:N518K;ENSP00000418524:N515K;ENSP00000418102:N516K;ENSP00000417857:N440K	ENSP00000318902:N516K	N	-	3	2	FOXP1	71104500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.137000	0.64789	2.343000	0.79666	0.533000	0.62120	AAT		0.378	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		15	22	0	0	0	1	0	15	22					C	71021810	A	C	71021810	3	2	48	1	0	0	0	0	1	0	0	0	6034	330	12	4	501	4	FOXP1	3	71021810	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	13300	71021810	127000620	986	5454										
PPP4R2	151987	broad.mit.edu	37	chr3	73114163	73114163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagtcaaacgacttccagcGaaatttcttcagttatggta	7	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:73114163G>A	ENST00000356692.5	+	8	1052	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	PPP4R2_ENST00000295862.9_Missense_Mutation_p.E211K|PPP4R2_ENST00000394284.3_Missense_Mutation_p.E210K			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	267					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GACTTCCAGCGAAATTTCTTC	0.448																																						ENST00000356692.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12						c.(799-801)Gaa>Aaa		protein phosphatase 4, regulatory subunit 2							64	68	67					3																	73114163		2203	4300	6503	SO:0001583	missense	151987				mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity	g.chr3:73114163G>A	AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.799G>A	3.37:g.73114163G>A	ENSP00000349124:p.Glu267Lys		Somatic				PPP4R2_ENST00000295862.9_Missense_Mutation_p.E211K|PPP4R2_ENST00000394284.3_Missense_Mutation_p.E210K	p.E267K			WXS	Illumina GAIIx	Phase_I	Q9NY27	PP4R2_HUMAN		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)	8	1052	+		Prostate(10;0.0187)|Lung SC(41;0.236)	267					A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Missense_Mutation	SNP	ENST00000356692.5	37	c.799G>A	CCDS2917.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910995	0.52439	.	.	ENSG00000163605	ENST00000356692;ENST00000394284;ENST00000295862	T;T;T	0.42513	1.01;0.97;1.02	5.05	5.05	0.67936	.	0.632665	0.18041	N	0.153604	T	0.46288	0.1385	L	0.44542	1.39	0.58432	D	0.999999	D;P	0.56968	0.978;0.909	P;B	0.47603	0.551;0.348	T	0.48875	-0.8996	10	0.56958	D	0.05	.	18.7745	0.91904	0.0:0.0:1.0:0.0	.	210;267	Q9NY27-2;Q9NY27	.;PP4R2_HUMAN	K	267;210;211	ENSP00000349124:E267K;ENSP00000377825:E210K;ENSP00000295862:E211K	ENSP00000295862:E211K	E	+	1	0	PPP4R2	73196853	1.000000	0.71417	0.099000	0.21106	0.011000	0.07611	8.147000	0.89628	2.494000	0.84150	0.585000	0.79938	GAA		0.448	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1	NM_174907		16	41	0	0	0	1	0	16	41					A	73114163	G	A	73114163	3	1	48	1	0	0	0	0	1	0	0	0	12416	1059	37	1	829	1	PPP4R2	3	73114163	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2092353	73114163	124908267	987	5455										
ROBO2	6092	broad.mit.edu	37	chr3	77645854	77645854	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccacgagcttgccagtaaAtaatagcaacagtggcccaa	9	11	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:77645854A>G	ENST00000461745.1	+	19	3707	c.2807A>G	c.(2806-2808)aAt>aGt	p.N936S	ROBO2_ENST00000332191.8_Missense_Mutation_p.N936S|ROBO2_ENST00000487694.3_Missense_Mutation_p.N952S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	936					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)		TTGCCAGTAAATAATAGCAAC	0.418																																						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.(2806-2808)aAt>aGt		roundabout, axon guidance receptor, homolog 2 (Drosophila)							127	125	125					3																	77645854		1836	4095	5931	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.chr3:77645854A>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.2807A>G	3.37:g.77645854A>G	ENSP00000417164:p.Asn936Ser		Somatic				ROBO2_ENST00000332191.8_Missense_Mutation_p.N936S|ROBO2_ENST00000487694.3_Missense_Mutation_p.N952S	p.N936S	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)	19	3707	+			936					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2807A>G	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.91|12.91	2.078606|2.078606	0.36662|0.36662	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000490991|ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	.|T;T;T	.|0.65916	.|-0.18;-0.14;-0.09	6.16|6.16	4.97|4.97	0.65823|0.65823	.|.	.|0.000000	.|0.49916	.|D	.|0.000127	T|T	0.53351|0.53351	0.1791|0.1791	L|L	0.55481|0.55481	1.735|1.735	.|.	.|.	.|.	.|B;P;B	.|0.36249	.|0.36;0.545;0.102	.|B;B;B	.|0.31812	.|0.062;0.136;0.045	T|T	0.62497|0.62497	-0.6842|-0.6842	4|9	.|0.20046	.|T	.|0.44	.|.	13.7549|13.7549	0.62930|0.62930	0.8724:0.1276:0.0:0.0|0.8724:0.1276:0.0:0.0	.|.	.|952;936;936	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	V|S	93|952;952;956;936;936	.|ENSP00000417335:N952S;ENSP00000417164:N936S;ENSP00000327536:N936S	.|ENSP00000327536:N936S	I|N	+|+	1|2	0|0	ROBO2|ROBO2	77728544|77728544	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.715000|0.715000	0.41141|0.41141	6.887000|6.887000	0.75616|0.75616	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	ATA|AAT		0.418	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		38	59	0	0	0	1	0	38	59					G	77645854	A	G	77645854	3	3	48	1	0	0	0	0	1	0	0	0	13529	101	4	4	2883	4	ROBO2	3	77645854	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	4531691	77645854	120376576	988	5456										
EPHA3	2042	broad.mit.edu	37	chr3	89259557	89259557	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agggtcttgtgtcaacaattCtaaggaggaagatcctccaa	10	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:89259557C>A	ENST00000336596.2	+	3	926	c.701C>A	c.(700-702)tCt>tAt	p.S234Y	EPHA3_ENST00000452448.2_Missense_Mutation_p.S234Y|EPHA3_ENST00000494014.1_Missense_Mutation_p.S234Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	234	Cys-rich.				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.S234Y(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)		GTCAACAATTCTAAGGAGGAA	0.488										TSP Lung(6;0.00050)																												ENST00000336596.2																			2	Substitution - Missense(2)	p.S234Y(2)	lung(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.(700-702)tCt>tAt		EPH receptor A3							169	162	164					3																	89259557		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89259557C>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.701C>A	3.37:g.89259557C>A	ENSP00000337451:p.Ser234Tyr	TSP Lung(6;0.00050)	Somatic				EPHA3_ENST00000494014.1_Missense_Mutation_p.S234Y|EPHA3_ENST00000452448.2_Missense_Mutation_p.S234Y	p.S234Y	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	926	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	234			Cys-rich.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.701C>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644776	0.87859	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.76709	-1.04;2.42;-1.03	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.90601	0.7053	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.85130	0.982;0.997	D	0.90701	0.4620	9	.	.	.	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	234;234	P29320;P29320-2	EPHA3_HUMAN;.	Y	234	ENSP00000337451:S234Y;ENSP00000399926:S234Y;ENSP00000419190:S234Y	.	S	+	2	0	EPHA3	89342247	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.798000	0.96311	0.655000	0.94253	TCT		0.488	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		33	139	1	0	1.99505e-19	1	2.71627e-19	33	139					A	89259557	C	A	89259557	3	1	48	1	0	0	0	0	1	0	0	0	5170	913	32	2	711	2	EPHA3	3	89259557	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	11613703	89259557	108762873	989	5457										
EPHA3	2042	broad.mit.edu	37	chr3	89478270	89478270	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atctaggtaagccagttatgAttgtcacagaatacatggag	10	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:89478270A>C	ENST00000336596.2	+	12	2314	c.2089A>C	c.(2089-2091)Att>Ctt	p.I697L	EPHA3_ENST00000494014.1_Missense_Mutation_p.I697L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	697	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		GCCAGTTATGATTGTCACAGA	0.289										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.(2089-2091)Att>Ctt		EPH receptor A3							103	108	106					3																	89478270		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89478270A>C	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.2089A>C	3.37:g.89478270A>C	ENSP00000337451:p.Ile697Leu	TSP Lung(6;0.00050)	Somatic				EPHA3_ENST00000494014.1_Missense_Mutation_p.I697L	p.I697L	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)	12	2314	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	697			Protein kinase.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2089A>C	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.875656	0.91664	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	D;D	0.83075	-1.68;-1.68	5.68	5.68	0.88126	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	0.83339	0.5233	N	0.10618	0.005	0.80722	D	1	P	0.39665	0.682	D	0.75020	0.985	T	0.82204	-0.0573	9	.	.	.	.	16.2237	0.82280	1.0:0.0:0.0:0.0	.	697	P29320	EPHA3_HUMAN	L	697	ENSP00000337451:I697L;ENSP00000419190:I697L	.	I	+	1	0	EPHA3	89560960	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.289000	0.77006	0.482000	0.46254	ATT		0.289	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		15	34	0	0	0	1	0	15	34					C	89478270	A	C	89478270	3	2	48	1	0	0	0	0	1	0	0	0	5170	333	12	4	2161	4	EPHA3	3	89478270	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	218713	89478270	108544160	990	5458										
EPHA3	2042	broad.mit.edu	37	chr3	89480399	89480399	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acatgggctatgttcaccgaGacctcgctgctcggaacatc	10	13	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:89480399G>T	ENST00000336596.2	+	13	2461	c.2236G>T	c.(2236-2238)Gac>Tac	p.D746Y	EPHA3_ENST00000494014.1_Missense_Mutation_p.D746Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	746	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		TGTTCACCGAGACCTCGCTGC	0.498										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.(2236-2238)Gac>Tac		EPH receptor A3							167	147	153					3																	89480399		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89480399G>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.2236G>T	3.37:g.89480399G>T	ENSP00000337451:p.Asp746Tyr	TSP Lung(6;0.00050)	Somatic				EPHA3_ENST00000494014.1_Missense_Mutation_p.D746Y	p.D746Y	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)	13	2461	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	746			Protein kinase.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2236G>T	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558589	0.86231	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.80909	-1.43;-1.43	5.33	5.33	0.75918	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	0.94892	0.8349	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97106	0.9801	9	.	.	.	.	19.3726	0.94495	0.0:0.0:1.0:0.0	.	746	P29320	EPHA3_HUMAN	Y	746	ENSP00000337451:D746Y;ENSP00000419190:D746Y	.	D	+	1	0	EPHA3	89563089	1.000000	0.71417	0.974000	0.42286	0.877000	0.50540	9.813000	0.99286	2.648000	0.89879	0.585000	0.79938	GAC		0.498	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		19	31	1	0	4.35082e-09	1	5.20082e-09	19	31					T	89480399	G	T	89480399	3	4	48	1	0	0	0	0	1	0	0	0	5170	942	33	2	2312	2	EPHA3	3	89480399	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2129	89480399	108542031	991	5459										
PROS1	5627	broad.mit.edu	37	chr3	93605179	93605179	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatacaagcttggatcattaCcggtttaatgagttcacttt	8	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:93605179C>T	ENST00000394236.3	-	11	1640		c.e11+1		PROS1_ENST00000407433.1_Splice_Site	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)						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)	TGGATCATTACCGGTTTAATG	0.373																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.e11+1		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						92	97	95					3																	93605179		2203	4300	6503	SO:0001630	splice_region_variant	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93605179C>T		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1323+1G>A	3.37:g.93605179C>T			Somatic				PROS1_ENST00000407433.1_Splice_Site		NM_000313.3	NP_000304.2	WXS	Illumina GAIIx	Phase_I	P07225	PROS_HUMAN			11	1640	-								A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Splice_Site	SNP	ENST00000394236.3	37		CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017652	0.35606	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	.	.	.	3.54	3.54	0.40534	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2952	0.73898	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PROS1	95087869	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	7.011000	0.76359	1.805000	0.52779	0.655000	0.94253	.		0.373	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313	Intron	12	40	0	0	0	1	0	12	40					T	93605179	C	T	93605179	5	4	48	1	0	0	0	0	0	0	1	0	12570	521	18	3	726	3	PROS1	3	93605179	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4124780	93605179	104417251	992	5460										
PROS1	5627	broad.mit.edu	37	chr3	93617309	93617309	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacctcacaactcttctgatCttgggcaagtttgaatcctt	6	11	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:93617309C>A	ENST00000394236.3	-	8	1148	c.832G>T	c.(832-834)Gat>Tat	p.D278Y	PROS1_ENST00000407433.1_Missense_Mutation_p.D147Y	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	278	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CTCTTCTGATCTTGGGCAAGT	0.383																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(832-834)Gat>Tat		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						102	96	98					3																	93617309		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.chr3:93617309C>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.832G>T	3.37:g.93617309C>A	ENSP00000377783:p.Asp278Tyr		Somatic				PROS1_ENST00000407433.1_Missense_Mutation_p.D147Y	p.D278Y	NM_000313.3	NP_000304.2	WXS	Illumina GAIIx	Phase_I	P07225	PROS_HUMAN			8	1148	-			278			EGF-like 4; calcium-binding (Potential).		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.832G>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364631	0.61513	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.78816	-1.21;-1.21	4.26	4.26	0.50523	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.205006	0.42172	D	0.000755	D	0.90017	0.6883	M	0.92317	3.295	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	D	0.92858	0.6303	10	0.87932	D	0	.	17.2048	0.86914	0.0:1.0:0.0:0.0	.	278	P07225	PROS_HUMAN	Y	278;147	ENSP00000377783:D278Y;ENSP00000385794:D147Y	ENSP00000377783:D278Y	D	-	1	0	PROS1	95099999	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	5.969000	0.70422	2.374000	0.81015	0.585000	0.79938	GAT		0.383	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		24	36	1	0	1.10923e-09	1	1.34134e-09	24	36					A	93617309	C	A	93617309	3	1	48	1	0	0	0	0	1	0	0	0	12570	913	32	2	1230	2	PROS1	3	93617309	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	12130	93617309	104405121	993	5461										
STX19	415117	broad.mit.edu	37	chr3	93733669	93733669	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattgtgtcattgtatataaAcatgatttgctgaaaatggc	8	4	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:93733669A>G	ENST00000315099.2	-	2	701	c.445T>C	c.(445-447)Ttt>Ctt	p.F149L	ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000303097.7_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	149					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TTGTATATAAACATGATTTGC	0.378																																						ENST00000315099.2																			0				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						c.(445-447)Ttt>Ctt		syntaxin 19							151	144	147					3																	93733669		2203	4300	6503	SO:0001583	missense	415117				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity	g.chr3:93733669A>G	AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.445T>C	3.37:g.93733669A>G	ENSP00000320679:p.Phe149Leu		Somatic				ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000394222.3_Intron	p.F149L	NM_001001850.2	NP_001001850.1	WXS	Illumina GAIIx	Phase_I	Q8N4C7	STX19_HUMAN			2	701	-			149						Missense_Mutation	SNP	ENST00000315099.2	37	c.445T>C	CCDS33793.1	.	.	.	.	.	.	.	.	.	.	A	6.111	0.388705	0.11581	.	.	ENSG00000178750	ENST00000315099	T	0.20598	2.06	4.76	2.26	0.28386	t-SNARE (1);	0.366126	0.28371	N	0.015589	T	0.08313	0.0207	N	0.12569	0.235	0.27345	N	0.956391	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	10	0.08599	T	0.76	-0.0695	4.8444	0.13507	0.5992:0.155:0.2458:0.0	.	149	Q8N4C7	STX19_HUMAN	L	149	ENSP00000320679:F149L	ENSP00000320679:F149L	F	-	1	0	STX19	95216359	0.973000	0.33851	0.892000	0.35008	0.960000	0.62799	1.454000	0.35178	0.360000	0.24265	0.529000	0.55759	TTT		0.378	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352909.1	NM_001001850		6	99	0	0	0	1	0	6	99					G	93733669	A	G	93733669	3	3	48	1	0	0	0	0	1	0	0	0	15357	43	2	4	443	4	STX19	3	93733669	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	116360	93733669	104288761	994	5462										
EPHA6	285220	broad.mit.edu	37	chr3	97198185	97198185	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagtcagaagagaagagaaGaaaccacttacagaatgggc	12	6	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:97198185G>T	ENST00000514100.1	+	6	469	c.227G>T	c.(226-228)aGa>aTa	p.R76I	EPHA6_ENST00000442602.2_Missense_Mutation_p.R50I|EPHA6_ENST00000502694.1_Missense_Mutation_p.R76I|EPHA6_ENST00000389672.5_Missense_Mutation_p.R684I	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	590	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						GAGAAGAGAAGAAACCACTTA	0.333																																						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.(2050-2052)aGa>aTa		EPH receptor A6							168	179	175					3																	97198185		1847	4094	5941	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97198185G>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	ENST00000514100.1:c.227G>T	3.37:g.97198185G>T	ENSP00000421711:p.Arg76Ile		Somatic				EPHA6_ENST00000502694.1_Missense_Mutation_p.R76I|EPHA6_ENST00000514100.1_Missense_Mutation_p.R76I|EPHA6_ENST00000442602.2_Missense_Mutation_p.R50I	p.R684I	NM_001080448.2	NP_001073917.2	WXS	Illumina GAIIx	Phase_I	Q9UF33	EPHA6_HUMAN			9	2089	+			589			Protein kinase.		D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37	c.2051G>T		.	.	.	.	.	.	.	.	.	.	G	21.1	4.090265	0.76756	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;D;T;T	0.82619	-0.92;-1.63;-1.4;0.14	5.91	5.91	0.95273	.	.	.	.	.	D	0.90140	0.6919	L	0.61218	1.895	0.80722	D	1	D;P;D;D	0.76494	0.98;0.472;0.999;0.985	P;B;D;P	0.83275	0.564;0.113;0.996;0.69	D	0.86984	0.2106	9	0.30078	T	0.28	.	20.2936	0.98544	0.0:0.0:1.0:0.0	.	50;589;76;76	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	I	684;76;76;50	ENSP00000374323:R684I;ENSP00000421711:R76I;ENSP00000423950:R76I;ENSP00000403100:R50I	ENSP00000374323:R684I	R	+	2	0	EPHA6	98680875	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.741000	0.91583	2.801000	0.96364	0.655000	0.94253	AGA		0.333	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		3	13	1	0	0.00909568	1	0.00935351	3	13					T	97198185	G	T	97198185	3	4	48	1	0	0	0	0	1	0	0	0	5173	942	33	2	2153	2	EPHA6	3	97198185	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3464516	97198185	100824245	995	5463										
CRYBG3	131544	broad.mit.edu	37	chr3	97618005	97618005	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttgcctaccagcaaaagttCttctgtggagaacaatacat	8	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:97618005C>A	ENST00000182096.4	+	11	2089	c.2025C>A	c.(2023-2025)ttC>ttA	p.F675L		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2623							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AGCAAAAGTTCTTCTGTGGAG	0.333																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2023-2025)ttC>ttA		beta-gamma crystallin domain containing 3							68	65	66					3																	97618005		1808	4073	5881	SO:0001583	missense	131544							g.chr3:97618005C>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.2025C>A	3.37:g.97618005C>A	ENSP00000182096:p.Phe675Leu		Somatic					p.F675L	NM_153605.3	NP_705833.3	WXS	Illumina GAIIx	Phase_I					11	2089	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.2025C>A		.	.	.	.	.	.	.	.	.	.	C	10.87	1.474075	0.26423	.	.	ENSG00000080200	ENST00000182096	T	0.74526	-0.85	5.84	4.97	0.65823	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.239629	0.29830	N	0.011097	T	0.61590	0.2359	L	0.29908	0.895	0.80722	D	1	P	0.40794	0.729	B	0.41764	0.366	T	0.56896	-0.7903	10	0.11485	T	0.65	.	10.1437	0.42751	0.0:0.8452:0.0:0.1548	.	675	Q68DQ2	CRBG3_HUMAN	L	675	ENSP00000182096:F675L	ENSP00000182096:F675L	F	+	3	2	CRYBG3	99100695	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.852000	0.27764	1.475000	0.48197	0.573000	0.79308	TTC		0.333	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		20	28	1	0	1.33834e-09	1	1.61283e-09	20	28					A	97618005	C	A	97618005	3	1	48	1	0	0	0	0	1	0	0	0	3915	912	32	2	2067	2	CRYBG3	3	97618005	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	419820	97618005	100404425	996	5464										
CRYBG3	131544	broad.mit.edu	37	chr3	97655650	97655650	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggatagcttatgaaggatcCaatttcttgggaagacaaat	10	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:97655650C>A	ENST00000182096.4	+	16	2623	c.2559C>A	c.(2557-2559)tcC>tcA	p.S853S	CRYBG3_ENST00000389622.2_Silent_p.S60S|CRYBG3_ENST00000485253.1_3'UTR	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2801							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						ATGAAGGATCCAATTTCTTGG	0.393																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2557-2559)tcC>tcA		beta-gamma crystallin domain containing 3							97	87	90					3																	97655650		1838	4099	5937	SO:0001819	synonymous_variant	131544							g.chr3:97655650C>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.2559C>A	3.37:g.97655650C>A			Somatic				CRYBG3_ENST00000389622.2_Silent_p.S60S|CRYBG3_ENST00000485253.1_3'UTR	p.S853S	NM_153605.3	NP_705833.3	WXS	Illumina GAIIx	Phase_I					16	2623	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Silent	SNP	ENST00000182096.4	37	c.2559C>A																																																																																					0.393	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		14	18	1	0	3.35478e-16	1	4.45534e-16	14	18					A	97655650	C	A	97655650	2	1	48	1	0	0	0	0	0	0	0	1	3915	581	21	5		5	CRYBG3	3	97655650	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	37645	97655650	100366780	997	5465										
OR5K1	26339	broad.mit.edu	37	chr3	98188675	98188675	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccaaaatgttagagaacttCttttctgagaacaaaaggat	7	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:98188675C>A	ENST00000332650.5	+	1	352	c.255C>A	c.(253-255)ttC>ttA	p.F85L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	85						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(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TAGAGAACTTCTTTTCTGAGA	0.433																																						ENST00000332650.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(253-255)ttC>ttA		olfactory receptor, family 5, subfamily K, member 1							170	179	176					3																	98188675		2203	4299	6502	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188675C>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"GPCR / Class A : Olfactory receptors"	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.255C>A	3.37:g.98188675C>A	ENSP00000373193:p.Phe85Leu		Somatic					p.F85L	NM_001004736.2	NP_001004736.2	WXS	Illumina GAIIx	Phase_I	Q8NHB7	OR5K1_HUMAN			1	352	+			85					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.255C>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	C	9.159	1.018326	0.19355	.	.	ENSG00000232382	ENST00000332650	T	0.00912	5.55	5.18	1.24	0.21308	GPCR, rhodopsin-like superfamily (1);	0.157248	0.30003	N	0.010660	T	0.00496	0.0016	N	0.02854	-0.475	0.21933	N	0.99947	B	0.14805	0.011	B	0.17979	0.02	T	0.47484	-0.9114	10	0.27785	T	0.31	-6.3369	5.0249	0.14379	0.1483:0.6003:0.0:0.2513	.	85	Q8NHB7	OR5K1_HUMAN	L	85	ENSP00000373193:F85L	ENSP00000373193:F85L	F	+	3	2	OR5K1	99671365	0.000000	0.05858	0.850000	0.33497	0.509000	0.34042	-0.715000	0.04997	0.167000	0.19631	0.563000	0.77884	TTC		0.433	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			58	117	1	0	2.40265e-35	1	3.4535e-35	58	117					A	98188675	C	A	98188675	3	1	48	1	0	0	0	0	1	0	0	0	11175	912	32	2	257	2	OR5K1	3	98188675	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	533025	98188675	99833755	998	5466										
OR5K1	26339	broad.mit.edu	37	chr3	98188696	98188696	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttctgagaacaaaaggatTtccctctatgaatgtgcagt	8	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:98188696T>G	ENST00000332650.5	+	1	373	c.276T>G	c.(274-276)atT>atG	p.I92M		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	92						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(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACAAAAGGATTTCCCTCTATG	0.433																																						ENST00000332650.5																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(274-276)atT>atG		olfactory receptor, family 5, subfamily K, member 1							162	170	167					3																	98188696		2203	4299	6502	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188696T>G	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"GPCR / Class A : Olfactory receptors"	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.276T>G	3.37:g.98188696T>G	ENSP00000373193:p.Ile92Met		Somatic					p.I92M	NM_001004736.2	NP_001004736.2	WXS	Illumina GAIIx	Phase_I	Q8NHB7	OR5K1_HUMAN			1	373	+			92					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.276T>G	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.293226	0.23564	.	.	ENSG00000232382	ENST00000332650	T	0.06768	3.26	5.18	1.32	0.21799	GPCR, rhodopsin-like superfamily (1);	0.518173	0.15926	N	0.237888	T	0.19127	0.0459	M	0.76328	2.33	0.20489	N	0.999893	D	0.55385	0.971	P	0.59595	0.86	T	0.08186	-1.0734	10	0.72032	D	0.01	-7.9811	4.3705	0.11246	0.3047:0.0884:0.0:0.6069	.	92	Q8NHB7	OR5K1_HUMAN	M	92	ENSP00000373193:I92M	ENSP00000373193:I92M	I	+	3	3	OR5K1	99671386	0.001000	0.12720	0.538000	0.28064	0.052000	0.14988	-1.444000	0.02403	-0.016000	0.14127	0.460000	0.39030	ATT		0.433	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			65	109	0	0	0	1	0	65	109					G	98188696	T	G	98188696	3	3	48	1	0	0	0	0	1	0	0	0	11175	1829	64	4	278	4	OR5K1	3	98188696	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	21	98188696	99833734	999	5467										
CLDND1	56650	broad.mit.edu	37	chr3	98237781	98237781	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttccgggatcaacaaatttCtccatgaactgctcagttag	7	10	3	1	rs141592597	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:98237781C>A	ENST00000503004.1	-	3	1230	c.351G>T	c.(349-351)gaG>gaT	p.E117D	CLDND1_ENST00000511081.1_Missense_Mutation_p.E22D|CLDND1_ENST00000341181.6_Missense_Mutation_p.E117D|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000502288.1_Missense_Mutation_p.E22D|CLDND1_ENST00000437922.1_Missense_Mutation_p.E140D|CLDND1_ENST00000507874.1_Missense_Mutation_p.E117D|CLDND1_ENST00000394180.2_Missense_Mutation_p.E117D|CLDND1_ENST00000513287.1_Missense_Mutation_p.E117D|CLDND1_ENST00000394181.2_Missense_Mutation_p.E117D|CLDND1_ENST00000510545.1_Missense_Mutation_p.E117D|CLDND1_ENST00000394185.2_Missense_Mutation_p.E117D			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	117						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						CAACAAATTTCTCCATGAACT	0.388																																						ENST00000503004.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						c.(349-351)gaG>gaT		claudin domain containing 1		C	ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU	6,4400	11.4+/-27.6	0,6,2197	87	82	84		351,420,351,351,66,351	4.6	1	3	dbSNP_134	84	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense	CLDND1	NM_001040181.1,NM_001040182.1,NM_001040183.1,NM_001040199.1,NM_001040200.1,NM_019895.2	45,45,45,45,45,45	0,6,6497	AA,AC,CC		0.0,0.1362,0.0461	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	117/254,140/277,117/254,117/254,22/159,117/254	98237781	6,13000	2203	4300	6503	SO:0001583	missense	56650					integral to membrane		g.chr3:98237781C>A	AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 4"	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.351G>T	3.37:g.98237781C>A	ENSP00000421226:p.Glu117Asp		Somatic				CLDND1_ENST00000510545.1_Missense_Mutation_p.E117D|CLDND1_ENST00000394180.2_Missense_Mutation_p.E117D|CLDND1_ENST00000513287.1_Missense_Mutation_p.E117D|CLDND1_ENST00000394181.2_Missense_Mutation_p.E117D|CLDND1_ENST00000502288.1_Missense_Mutation_p.E22D|CLDND1_ENST00000511081.1_Missense_Mutation_p.E22D|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000437922.1_Missense_Mutation_p.E140D|CLDND1_ENST00000394185.2_Missense_Mutation_p.E117D|CLDND1_ENST00000341181.6_Missense_Mutation_p.E117D|CLDND1_ENST00000507874.1_Missense_Mutation_p.E117D	p.E117D			WXS	Illumina GAIIx	Phase_I	Q9NY35	CLDN1_HUMAN			3	1230	-			117					B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	ENST00000503004.1	37	c.351G>T	CCDS2930.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485021	0.44147	0.001362	0.0	ENSG00000080822	ENST00000502288;ENST00000507874;ENST00000341181;ENST00000437922;ENST00000394180;ENST00000506885;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000510545;ENST00000511081;ENST00000513287;ENST00000511667;ENST00000513452;ENST00000502299;ENST00000512147;ENST00000508902;ENST00000510541;ENST00000514537;ENST00000515620;ENST00000507944;ENST00000508659;ENST00000503621;ENST00000508071	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.34472	1.84;1.82;1.84;1.84;1.84;1.84;1.84;1.41;1.84;1.42;1.84;1.84;1.36;1.84;1.41	5.5	4.63	0.57726	.	0.154304	0.56097	D	0.000021	T	0.37433	0.1003	M	0.62723	1.935	0.41973	D	0.990762	P;B;P;B	0.43094	0.799;0.071;0.589;0.232	B;B;B;B	0.43889	0.435;0.048;0.336;0.069	T	0.16600	-1.0397	10	0.14656	T	0.56	-0.4602	12.2128	0.54389	0.0:0.9175:0.0:0.0825	.	117;22;117;117	D6RCR8;F2Z2D9;Q9NY35;Q9NY35-2	.;.;CLDN1_HUMAN;.	D	22;117;117;140;117;70;117;117;117;117;22;117;95;117;117;2;117;2;117;117;117;117;95;117	ENSP00000340247:E117D;ENSP00000388457:E140D;ENSP00000377734:E117D;ENSP00000421226:E117D;ENSP00000377739:E117D;ENSP00000377735:E117D;ENSP00000423590:E117D;ENSP00000424669:E22D;ENSP00000426869:E117D;ENSP00000423732:E95D;ENSP00000425539:E117D;ENSP00000420913:E117D;ENSP00000427119:E2D;ENSP00000421413:E117D;ENSP00000423151:E117D	ENSP00000340247:E117D	E	-	3	2	CLDND1	99720471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.556000	0.23438	1.321000	0.45227	0.563000	0.77884	GAG		0.388	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895		5	17	1	0	0.000602214	1	0.000636035	5	17					A	98237781	C	A	98237781	3	1	48	1	0	0	0	0	1	0	0	0	3495	912	32	2	422	2	CLDND1	3	98237781	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	49085	98237781	99784649	1000	5468										
GPR15	2838	broad.mit.edu	37	chr3	98251633	98251633	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcgtggcagcctttcttgtCtcctggctgcccttcaatac	9	14	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:98251633C>A	ENST00000284311.3	+	1	891	c.756C>A	c.(754-756)gtC>gtA	p.V252V		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	252					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CCTTTCTTGTCTCCTGGCTGC	0.453																																						ENST00000284311.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(754-756)gtC>gtA		G protein-coupled receptor 15							67	67	67					3																	98251633		2203	4300	6503	SO:0001819	synonymous_variant	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251633C>A		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"GPCR / Class A : Orphans"	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.756C>A	3.37:g.98251633C>A			Somatic					p.V252V	NM_005290.1	NP_005281.1	WXS	Illumina GAIIx	Phase_I	P49685	GPR15_HUMAN		Lung(72;0.246)	1	891	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	252					Q3MIL4|Q6ISN6	Silent	SNP	ENST00000284311.3	37	c.756C>A	CCDS2931.1																																																																																				0.453	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			26	53	1	0	4.26978e-12	1	5.35675e-12	26	53					A	98251633	C	A	98251633	2	1	48	1	0	0	0	0	0	0	0	1	6663	900	32	2		2	GPR15	3	98251633	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	13852	98251633	99770797	1001	5469										
GPR128	84873	broad.mit.edu	37	chr3	100352109	100352109	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaatttctttgtattaaagCgggcaatccaatggcagtcc	8	8	1	0	rs200895145		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:100352109C>T	ENST00000273352.3	+	4	603	c.335C>T	c.(334-336)gCg>gTg	p.A112V	GPR128_ENST00000475887.1_5'Flank	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	112					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						TGTATTAAAGCGGGCAATCCA	0.269																																					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.e4-1		G protein-coupled receptor 128		C	VAL/ALA	0,4400		0,0,2200	28	30	29		335	2.9	0.9	3		29	8,8586		0,8,4289	yes	missense-near-splice	GPR128	NM_032787.2	64	0,8,6489	TT,TC,CC		0.0931,0.0,0.0616	probably-damaging	112/798	100352109	8,12986	2200	4297	6497	SO:0001630	splice_region_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100352109C>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.335-1C>T	3.37:g.100352109C>T			Somatic					p.A112_splice	NM_032787.2	NP_116176.2	WXS	Illumina GAIIx	Phase_I	Q96K78	GP128_HUMAN			4	603	+			112					Q14D94|Q86SQ2	Splice_Site	SNP	ENST00000273352.3	37	c.334_splice	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976982	0.34848	0.0	9.31E-4	ENSG00000144820	ENST00000273352	T	0.43688	0.94	5.67	2.93	0.34026	.	0.116159	0.38164	N	0.001789	T	0.33089	0.0851	L	0.57536	1.79	0.80722	D	1	B	0.29232	0.238	B	0.23574	0.047	T	0.08229	-1.0732	9	.	.	.	.	7.0291	0.24956	0.0:0.7279:0.0:0.2721	.	112	Q96K78	GP128_HUMAN	V	112	ENSP00000273352:A112V	.	A	+	2	0	GPR128	101834799	0.924000	0.31332	0.919000	0.36401	0.729000	0.41735	-0.037000	0.12164	0.753000	0.32945	-0.142000	0.14014	GCG		0.269	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1		Missense_Mutation	10	15	0	0	0	1	0	10	15					T	100352109	C	T	100352109	5	4	48	1	0	0	0	0	0	0	1	0	6649	782	27	1	349	1	GPR128	3	100352109	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2100476	100352109	97670321	1002	5470										
IMPG2	50939	broad.mit.edu	37	chr3	100947714	100947714	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaaactctcattctctcttGaatttccttaaacaaaaaag	2	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:100947714G>T	ENST00000193391.7	-	18	3827	c.3640C>A	c.(3640-3642)Caa>Aaa	p.Q1214K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1214	Hyaluronan-binding motif involved in chondroitin sulfate A- and C-binding motif. {ECO:0000250}.				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)	ATTCTCTCTTGAATTTCCTTA	0.383																																						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.(3640-3642)Caa>Aaa		interphotoreceptor matrix proteoglycan 2							96	95	95					3																	100947714		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100947714G>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3640C>A	3.37:g.100947714G>T	ENSP00000193391:p.Gln1214Lys		Somatic					p.Q1214K	NM_016247.3	NP_057331.2	WXS	Illumina GAIIx	Phase_I	Q9BZV3	IMPG2_HUMAN			18	3827	-			1214			Hyaluronan-binding motif involved in chondroitin sulfate A- and C-binding motif (By similarity).		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.3640C>A	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132270	0.77662	.	.	ENSG00000081148	ENST00000193391	T	0.26518	1.73	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	T	0.53578	0.1805	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.994	T	0.54193	-0.8330	10	0.87932	D	0	-9.9671	19.819	0.96583	0.0:0.0:1.0:0.0	.	1214;1214	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	K	1214	ENSP00000193391:Q1214K	ENSP00000193391:Q1214K	Q	-	1	0	IMPG2	102430404	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.209000	0.65208	2.691000	0.91804	0.655000	0.94253	CAA		0.383	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			12	23	1	0	0.000978159	1	0.00102903	12	23					T	100947714	G	T	100947714	3	4	48	1	0	0	0	0	1	0	0	0	7738	1299	45	2	93	2	IMPG2	3	100947714	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	595605	100947714	97074716	1003	5471										
IMPG2	50939	broad.mit.edu	37	chr3	101038599	101038599	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttggtagctagagaaaggtCtgttgattcttcaggcagga	13	5	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:101038599C>A	ENST00000193391.7	-	2	350	c.163G>T	c.(163-165)Gac>Tac	p.D55Y		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	55					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)	AGAGAAAGGTCTGTTGATTCT	0.423																																						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.(163-165)Gac>Tac		interphotoreceptor matrix proteoglycan 2							119	125	123					3																	101038599		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:101038599C>A	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.163G>T	3.37:g.101038599C>A	ENSP00000193391:p.Asp55Tyr		Somatic					p.D55Y	NM_016247.3	NP_057331.2	WXS	Illumina GAIIx	Phase_I	Q9BZV3	IMPG2_HUMAN			2	350	-			55					A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.163G>T	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561774	0.45590	.	.	ENSG00000081148	ENST00000193391	T	0.24723	1.84	5.64	3.82	0.43975	.	0.513050	0.20377	N	0.093532	T	0.22282	0.0537	L	0.60455	1.87	0.09310	N	1	B	0.17465	0.022	B	0.12837	0.008	T	0.26538	-1.0100	10	0.72032	D	0.01	-3.0726	3.6937	0.08355	0.2269:0.604:0.0:0.1691	.	55	Q9BZV3	IMPG2_HUMAN	Y	55	ENSP00000193391:D55Y	ENSP00000193391:D55Y	D	-	1	0	IMPG2	102521289	0.012000	0.17670	0.117000	0.21633	0.771000	0.43674	2.005000	0.40864	1.362000	0.46000	0.563000	0.77884	GAC		0.423	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			7	83	1	0	5.18039e-06	1	5.75679e-06	7	83					A	101038599	C	A	101038599	3	1	48	1	0	0	0	0	1	0	0	0	7738	913	32	2	3634	2	IMPG2	3	101038599	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	90885	101038599	96983831	1004	5472										
SENP7	57337	broad.mit.edu	37	chr3	101086730	101086730	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgagaatcaggtaaattatTtctaagccttctctttgtct	6	7	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:101086730T>G	ENST00000394095.2	-	8	975	c.922A>C	c.(922-924)Aat>Cat	p.N308H	SENP7_ENST00000394094.2_Missense_Mutation_p.N243H|SENP7_ENST00000314261.7_Missense_Mutation_p.N242H|SENP7_ENST00000394091.1_Missense_Mutation_p.N144H|SENP7_ENST00000358203.3_Missense_Mutation_p.N144H|SENP7_ENST00000348610.3_Missense_Mutation_p.N275H	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	308						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						GGTAAATTATTTCTAAGCCTT	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.(922-924)Aat>Cat		SUMO1/sentrin specific peptidase 7							127	139	135					3																	101086730		2202	4299	6501	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101086730T>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.922A>C	3.37:g.101086730T>G	ENSP00000377655:p.Asn308His		Somatic				SENP7_ENST00000394094.2_Missense_Mutation_p.N243H|SENP7_ENST00000394091.1_Missense_Mutation_p.N144H|SENP7_ENST00000314261.7_Missense_Mutation_p.N242H|SENP7_ENST00000348610.3_Missense_Mutation_p.N275H|SENP7_ENST00000358203.3_Missense_Mutation_p.N144H	p.N308H	NM_020654.3	NP_065705.3	WXS	Illumina GAIIx	Phase_I	Q9BQF6	SENP7_HUMAN			8	975	-			308					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.922A>C	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	9.433	1.086170	0.20390	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.18016	2.24;2.24;2.25;2.25;2.25;2.24	5.29	1.53	0.23141	.	0.815097	0.11666	N	0.541373	T	0.11110	0.0271	N	0.22421	0.69	0.09310	N	1	D;P;P;P	0.54964	0.969;0.643;0.697;0.571	P;B;B;B	0.44811	0.461;0.264;0.332;0.178	T	0.18304	-1.0341	10	0.66056	D	0.02	0.186	2.119	0.03721	0.1591:0.0859:0.1664:0.5885	.	144;242;275;308	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	H	308;243;242;144;144;275	ENSP00000377655:N308H;ENSP00000377654:N243H;ENSP00000313624:N242H;ENSP00000377651:N144H;ENSP00000350936:N144H;ENSP00000342159:N275H	ENSP00000313624:N242H	N	-	1	0	SENP7	102569420	0.898000	0.30612	0.069000	0.20011	0.092000	0.18411	0.669000	0.25142	0.117000	0.18138	-0.265000	0.10407	AAT		0.328	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		35	43	0	0	0	1	0	35	43					G	101086730	T	G	101086730	3	3	48	1	0	0	0	0	1	0	0	0	14066	1841	64	4	2298	4	SENP7	3	101086730	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	48131	101086730	96935700	1005	5473										
RG9MTD1	54931	broad.mit.edu	37	chr3	101284157	101284157	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagataaacagaaaaactttCtatttttacgactttgggat	6	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:101284157C>A	ENST00000309922.6	+	2	686	c.532C>A	c.(532-534)Cta>Ata	p.L178I		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	178					mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										GAAAAACTTTCTATTTTTACG	0.408																																						ENST00000309922.6																			0											c.(532-534)Cta>Ata		tRNA methyltransferase 10 homolog C (S. cerevisiae)							82	78	79					3																	101284157		1829	4082	5911	SO:0001583	missense	54931							g.chr3:101284157C>A	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 1"	615423	"RNA (guanine-9-) methyltransferase domain containing 1"	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.532C>A	3.37:g.101284157C>A	ENSP00000312356:p.Leu178Ile		Somatic					p.L178I	NM_017819.2	NP_060289.2	WXS	Illumina GAIIx	Phase_I					2	686	+								Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	ENST00000309922.6	37	c.532C>A	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	C	5.561	0.288436	0.10513	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	T;T	0.23348	2.5;1.91	5.72	1.13	0.20643	.	0.645826	0.14968	N	0.287972	T	0.11153	0.0272	N	0.14661	0.345	0.09310	N	1	B	0.23442	0.085	B	0.17979	0.02	T	0.29336	-1.0015	10	0.19590	T	0.45	-24.9	4.2544	0.10710	0.4104:0.3593:0.0:0.2302	.	178	Q7L0Y3	MRRP1_HUMAN	I	178	ENSP00000312356:L178I;ENSP00000419389:L178I	ENSP00000312356:L178I	L	+	1	2	RG9MTD1	102766847	0.749000	0.28305	0.332000	0.25469	0.456000	0.32438	0.515000	0.22801	0.293000	0.22520	0.655000	0.94253	CTA		0.408	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819		15	35	1	0	3.27435e-08	1	3.83577e-08	15	35					A	101284157	C	A	101284157	3	1	48	1	0	0	0	0	1	0	0	0	13286	912	32	2	534	2	RG9MTD1	3	101284157	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	197427	101284157	96738273	1006	5474										
CEP97	79598	broad.mit.edu	37	chr3	101451471	101451471	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctaaacctcagagtcctagAtggatatgtgatttctcaga	8	9	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:101451471A>C	ENST00000341893.3	+	6	1453	c.701A>C	c.(700-702)gAt>gCt	p.D234A	CEP97_ENST00000494050.1_Missense_Mutation_p.D234A|CEP97_ENST00000462076.1_3'UTR|CEP97_ENST00000327230.4_Missense_Mutation_p.D234A			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	234	LRRCT.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						AGAGTCCTAGATGGATATGTG	0.403																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(700-702)gAt>gCt		centrosomal protein 97kDa							135	127	130					3																	101451471		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101451471A>C	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.701A>C	3.37:g.101451471A>C	ENSP00000342510:p.Asp234Ala		Somatic				CEP97_ENST00000462076.1_3'UTR|CEP97_ENST00000494050.1_Missense_Mutation_p.D234A|CEP97_ENST00000327230.4_Missense_Mutation_p.D234A	p.D234A			WXS	Illumina GAIIx	Phase_I	Q8IW35	CEP97_HUMAN			6	1453	+			234			LRRCT.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.701A>C	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.949892	0.92660	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.62788	0.0;0.0;0.0	5.82	5.82	0.92795	.	0.045937	0.85682	D	0.000000	T	0.76751	0.4031	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78914	-0.2016	10	0.87932	D	0	-22.6361	16.19	0.81981	1.0:0.0:0.0:0.0	.	234;234;234	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	A	234	ENSP00000342510:D234A;ENSP00000325881:D234A;ENSP00000418185:D234A	ENSP00000325881:D234A	D	+	2	0	CEP97	102934161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.300000	0.96151	2.225000	0.72522	0.460000	0.39030	GAT		0.403	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		7	20	0	0	0	1	0	7	20					C	101451471	A	C	101451471	3	2	48	1	0	0	0	0	1	0	0	0	3265	333	12	4	723	4	CEP97	3	101451471	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	167314	101451471	96570959	1007	5475										
ZPLD1	131368	broad.mit.edu	37	chr3	102187875	102187875	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcggggccggttttcttttGaagtgttccgatttgtgaaa	13	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:102187875G>T	ENST00000491959.1	+	15	1711	c.829G>T	c.(829-831)Gaa>Taa	p.E277*	ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.E277*|ZPLD1_ENST00000306176.1_Nonsense_Mutation_p.E293*			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	277	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GTTTTCTTTTGAAGTGTTCCG	0.478																																						ENST00000306176.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						c.(877-879)Gaa>Taa		zona pellucida-like domain containing 1							91	91	91					3																	102187875		2203	4300	6503	SO:0001587	stop_gained	131368					integral to membrane		g.chr3:102187875G>T	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.829G>T	3.37:g.102187875G>T	ENSP00000420265:p.Glu277*		Somatic				ZPLD1_ENST00000491959.1_Nonsense_Mutation_p.E277*|ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.E277*	p.E293*	NM_175056.1	NP_778226.1	WXS	Illumina GAIIx	Phase_I	Q8TCW7	ZPLD1_HUMAN			8	977	+			277			ZP.		Q49AS1|Q8WU36	Nonsense_Mutation	SNP	ENST00000491959.1	37	c.877G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.476637	0.98309	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-15.4672	19.3006	0.94143	0.0:0.0:1.0:0.0	.	.	.	.	X	277;293;277	.	ENSP00000307801:E293X	E	+	1	0	ZPLD1	103670565	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	9.848000	0.99507	2.571000	0.86741	0.462000	0.41574	GAA		0.478	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		16	41	1	0	1.3612e-06	1	1.53357e-06	16	41					T	102187875	G	T	102187875	4	4	48	1	0	0	0	0	0	1	0	0	18236	1291	45	2	907	2	ZPLD1	3	102187875	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	736404	102187875	95834555	1008	5476										
CBLB	868	broad.mit.edu	37	chr3	105452861	105452861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taatgattatacctgccatgCcgtaaggcaagaggtgcaca	10	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:105452861C>T	ENST00000264122.4	-	9	1516	c.1195G>A	c.(1195-1197)Gca>Aca	p.A399T	CBLB_ENST00000405772.1_Missense_Mutation_p.A399T|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000394027.3_Missense_Mutation_p.A421T|CBLB_ENST00000403724.1_Missense_Mutation_p.A399T	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	399					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ACCTGCCATGCCGTAAGGCAA	0.393			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(1195-1197)Gca>Aca		Cbl proto-oncogene B, E3 ubiquitin protein ligase							90	85	87					3																	105452861		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105452861C>T	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1195G>A	3.37:g.105452861C>T	ENSP00000264122:p.Ala399Thr		Somatic				CBLB_ENST00000405772.1_Missense_Mutation_p.A399T|CBLB_ENST00000403724.1_Missense_Mutation_p.A399T|CBLB_ENST00000394027.3_Missense_Mutation_p.A421T|CBLB_ENST00000545639.1_3'UTR	p.A399T	NM_170662.3	NP_733762.2	WXS	Illumina GAIIx	Phase_I	Q13191	CBLB_HUMAN			9	1516	-			399					A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.1195G>A	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380548	0.61845	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.38	5.38	0.77491	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.106958	0.64402	D	0.000005	T	0.67287	0.2877	N	0.10664	0.02	0.80722	D	1	P;B;B	0.40398	0.716;0.421;0.096	P;B;B	0.45610	0.487;0.169;0.278	T	0.74144	-0.3760	10	0.87932	D	0	-4.8497	14.0198	0.64547	0.1512:0.8488:0.0:0.0	.	421;399;399	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	T	399;421;399;399	ENSP00000264122:A399T;ENSP00000377595:A421T;ENSP00000384816:A399T;ENSP00000384938:A399T	ENSP00000264122:A399T	A	-	1	0	CBLB	106935551	0.999000	0.42202	0.995000	0.50966	0.918000	0.54935	3.458000	0.53014	2.529000	0.85273	0.585000	0.79938	GCA		0.393	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		15	32	0	0	0	1	0	15	32					T	105452861	C	T	105452861	3	4	48	1	0	0	0	0	1	0	0	0	2703	739	26	3	1797	3	CBLB	3	105452861	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3264986	105452861	92569569	1009	5477										
BBX	56987	broad.mit.edu	37	chr3	107492183	107492183	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatcaagagagaagaaaatgTcaaaggagaaatcctcagac	9	6	3	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:107492183T>G	ENST00000325805.8	+	11	1902	c.1615T>G	c.(1615-1617)Tca>Gca	p.S539A	BBX_ENST00000415149.2_Missense_Mutation_p.S539A|BBX_ENST00000402543.1_Missense_Mutation_p.S539A|BBX_ENST00000406780.1_Missense_Mutation_p.S539A|BBX_ENST00000416476.2_Intron			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	539	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAAGAAAATGTCAAAGGAGAA	0.443																																						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.(1615-1617)Tca>Gca		bobby sox homolog (Drosophila)							84	80	81					3																	107492183		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107492183T>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.1615T>G	3.37:g.107492183T>G	ENSP00000319974:p.Ser539Ala		Somatic				BBX_ENST00000406780.1_Missense_Mutation_p.S539A|BBX_ENST00000402543.1_Missense_Mutation_p.S539A|BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Missense_Mutation_p.S539A	p.S539A	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	1942	+			539			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1615T>G	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.268789	0.59540	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	6.07	6.07	0.98685	.	0.398223	0.29205	N	0.012839	T	0.42607	0.1210	L	0.27053	0.805	0.29674	N	0.842203	P;P;P	0.45531	0.728;0.86;0.628	B;B;B	0.42851	0.211;0.4;0.318	T	0.52275	-0.8597	10	0.72032	D	0.01	-8.5897	10.895	0.47017	0.0:0.0696:0.0:0.9304	.	539;539;539	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	A	539	ENSP00000408358:S539A;ENSP00000385317:S539A;ENSP00000319974:S539A;ENSP00000385530:S539A	ENSP00000319974:S539A	S	+	1	0	BBX	108974873	0.980000	0.34600	1.000000	0.80357	0.939000	0.58152	2.362000	0.44169	2.330000	0.79161	0.477000	0.44152	TCA		0.443	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		29	53	0	0	0	1	0	29	53					G	107492183	T	G	107492183	3	3	48	1	0	0	0	0	1	0	0	0	1343	1667	58	4	1645	4	BBX	3	107492183	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2039322	107492183	90530247	1010	5478										
MORC1	27136	broad.mit.edu	37	chr3	108724067	108724067	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtctcttctatgtttcttttCtgtcctctacggctcgctga	7	12	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:108724067C>A	ENST00000483760.1	-	18	1843	c.1800G>T	c.(1798-1800)caG>caT	p.Q600H	MORC1_ENST00000232603.5_Missense_Mutation_p.Q621H					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						TGTTTCTTTTCTGTCCTCTAC	0.378																																						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.(1861-1863)caG>caT		MORC family CW-type zinc finger 1							66	68	67					3																	108724067		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108724067C>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1800G>T	3.37:g.108724067C>A	ENSP00000417282:p.Gln600His		Somatic				MORC1_ENST00000483760.1_Missense_Mutation_p.Q600H	p.Q621H	NM_014429.3	NP_055244.3	WXS	Illumina GAIIx	Phase_I	Q86VD1	MORC1_HUMAN			19	1945	-			621						Missense_Mutation	SNP	ENST00000483760.1	37	c.1863G>T		.	.	.	.	.	.	.	.	.	.	C	6.026	0.373195	0.11409	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06449	3.3;3.3	4.23	-2.47	0.06442	.	1.584030	0.03772	N	0.259868	T	0.05135	0.0137	N	0.24115	0.695	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.43940	-0.9360	10	0.48119	T	0.1	0.248	6.787	0.23679	0.0:0.6267:0.1665:0.2068	.	600;621	E7ERX1;Q86VD1	.;MORC1_HUMAN	H	621;600	ENSP00000232603:Q621H;ENSP00000417282:Q600H	ENSP00000232603:Q621H	Q	-	3	2	MORC1	110206757	0.004000	0.15560	0.000000	0.03702	0.014000	0.08584	-0.051000	0.11885	-0.391000	0.07763	-0.484000	0.04775	CAG		0.378	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			12	26	1	0	3.27435e-08	1	3.83577e-08	12	26					A	108724067	C	A	108724067	3	1	48	1	0	0	0	0	1	0	0	0	9710	912	32	2	1131	2	MORC1	3	108724067	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1231884	108724067	89298363	1011	5479										
PHLDB2	90102	broad.mit.edu	37	chr3	111603511	111603511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccgcctcctatcagcagatCgggagccgcaagcatgcctt	10	16	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:111603511C>T	ENST00000431670.2	+	2	998	c.587C>T	c.(586-588)tCg>tTg	p.S196L	PHLDB2_ENST00000478922.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S223L|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S196L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	196						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATCAGCAGATCGGGAGCCGCA	0.562																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(586-588)tCg>tTg		pleckstrin homology-like domain, family B, member 2							48	48	48					3																	111603511		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603511C>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.587C>T	3.37:g.111603511C>T	ENSP00000405405:p.Ser196Leu		Somatic				PHLDB2_ENST00000412622.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S223L|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S196L|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S196L	p.S196L	NM_001134438.1	NP_001127910.1	WXS	Illumina GAIIx	Phase_I	Q86SQ0	PHLB2_HUMAN			2	998	+			196					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.587C>T	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836511	0.71373	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.37411	1.2;1.24;1.21;1.28;1.24;1.21	5.61	5.61	0.85477	.	0.394784	0.27151	N	0.020698	T	0.56016	0.1957	L	0.53249	1.67	0.39443	D	0.967282	P;D;D;P;D	0.89917	0.84;1.0;1.0;0.951;0.997	B;D;D;B;P	0.72338	0.129;0.977;0.966;0.32;0.766	T	0.54761	-0.8245	10	0.52906	T	0.07	.	16.9138	0.86146	0.0:1.0:0.0:0.0	.	196;196;196;196;223	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	L	223;223;196;196;196;196;196;196;196	ENSP00000377500:S223L;ENSP00000405405:S196L;ENSP00000405292:S196L;ENSP00000418296:S196L;ENSP00000377502:S196L;ENSP00000418319:S196L	ENSP00000352764:S223L	S	+	2	0	PHLDB2	113086201	0.994000	0.37717	0.511000	0.27724	0.763000	0.43281	3.996000	0.57009	2.813000	0.96785	0.655000	0.94253	TCG		0.562	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		27	52	0	0	0	1	0	27	52					T	111603511	C	T	111603511	3	4	48	1	0	0	0	0	1	0	0	0	11861	893	31	1	674	1	PHLDB2	3	111603511	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2879444	111603511	86418919	1012	5480										
PHLDB2	90102	broad.mit.edu	37	chr3	111671466	111671466	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaacagcataaagaaggcctCtatctgagtgatactttgcc	8	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:111671466C>A	ENST00000431670.2	+	11	3090	c.2679C>A	c.(2677-2679)ctC>ctA	p.L893L	PHLDB2_ENST00000412622.1_Silent_p.L850L|PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000481953.1_Silent_p.L850L|PHLDB2_ENST00000393923.3_Silent_p.L877L|PHLDB2_ENST00000393925.3_Silent_p.L893L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	893						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGAAGGCCTCTATCTGAGTG	0.408																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(2677-2679)ctC>ctA		pleckstrin homology-like domain, family B, member 2							143	139	141					3																	111671466		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111671466C>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.2679C>A	3.37:g.111671466C>A			Somatic				PHLDB2_ENST00000412622.1_Silent_p.L850L|PHLDB2_ENST00000393923.3_Silent_p.L877L|PHLDB2_ENST00000393925.3_Silent_p.L893L|PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000481953.1_Silent_p.L850L	p.L893L	NM_001134438.1	NP_001127910.1	WXS	Illumina GAIIx	Phase_I	Q86SQ0	PHLB2_HUMAN			11	3090	+			893					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.2679C>A	CCDS46886.1																																																																																				0.408	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		36	46	1	0	9.8876e-21	1	1.35804e-20	36	46					A	111671466	C	A	111671466	2	1	48	1	0	0	0	0	0	0	0	1	11861	900	32	2		2	PHLDB2	3	111671466	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	67955	111671466	86350964	1013	5481										
SLC9A10	285335	broad.mit.edu	37	chr3	111898408	111898408	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttttgcaggtggcagaataTttcataggttcattagttaa	10	4	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:111898408T>A	ENST00000305815.5	-	23	3141	c.2889A>T	c.(2887-2889)aaA>aaT	p.K963N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.K915N	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	963					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)										TGGCAGAATATTTCATAGGTT	0.338																																						ENST00000305815.5																			0											c.(2887-2889)aaA>aaT		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							96	103	101					3																	111898408		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111898408T>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2889A>T	3.37:g.111898408T>A	ENSP00000306627:p.Lys963Asn		Somatic				SLC9C1_ENST00000487372.1_Missense_Mutation_p.K915N	p.K963N	NM_183061.1	NP_898884.1	WXS	Illumina GAIIx	Phase_I	Q4G0N8	S9A10_HUMAN			23	3141	-			963					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.2889A>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.159491	0.57368	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	D;D	0.92595	-3.07;-3.07	5.86	4.71	0.59529	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.684102	0.14413	N	0.321175	D	0.84754	0.5542	N	0.08118	0	0.31247	N	0.694491	P;P	0.43231	0.551;0.801	P;B	0.47044	0.535;0.412	T	0.79928	-0.1596	10	0.17369	T	0.5	0.0078	8.5647	0.33531	0.0:0.0866:0.0:0.9134	.	915;963	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	N	963;915	ENSP00000306627:K963N;ENSP00000420688:K915N	ENSP00000306627:K963N	K	-	3	2	SLC9A10	113381098	0.918000	0.31147	0.994000	0.49952	0.967000	0.64934	-0.119000	0.10676	1.059000	0.40554	0.421000	0.28195	AAA		0.338	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		22	46	0	0	0	1	0	22	46					A	111898408	T	A	111898408	3	1	48	1	0	0	0	0	1	0	0	0	14725	1490	52	4	672	4	SLC9A10	3	111898408	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	226942	111898408	86124022	1014	5482										
CCDC80	151887	broad.mit.edu	37	chr3	112335658	112335658	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attcgggactggaaagtatcGatcagatcaaacacagactt	9	8	2	2	rs141976023		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:112335658G>A	ENST00000206423.3	-	5	3173	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	CCDC80_ENST00000439685.2_Silent_p.I740I	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	740					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGAAAGTATCGATCAGATCAA	0.388																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(2218-2220)atC>atT		coiled-coil domain containing 80		G	,	0,4406		0,0,2203	170	153	159		2220,2220	-1.4	1	3	dbSNP_134	159	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous,coding-synonymous	CCDC80	NM_199511.1,NM_199512.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	740/951,740/951	112335658	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	151887							g.chr3:112335658G>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2220C>T	3.37:g.112335658G>A			Somatic				CCDC80_ENST00000439685.2_Silent_p.I740I	p.I740I	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	WXS	Illumina GAIIx	Phase_I	Q76M96	CCD80_HUMAN			5	3173	-			740					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	c.2220C>T	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	9.902	1.207172	0.22205	0.0	1.16E-4	ENSG00000091986	ENST00000461431	.	.	.	5.68	-1.41	0.08941	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.4767	7.9636	0.30085	0.5003:0.0:0.3967:0.1029	.	.	.	.	X	138	.	.	R	-	1	2	CCDC80	113818348	0.133000	0.22466	0.995000	0.50966	0.994000	0.84299	-0.488000	0.06497	-0.107000	0.12088	0.655000	0.94253	CGA		0.388	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		30	36	0	0	0	1	0	30	36					A	112335658	G	A	112335658	2	1	48	1	0	0	0	0	0	0	0	1	2856	1048	37	1		1	CCDC80	3	112335658	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	437250	112335658	85686772	1015	5483										
CD200R1L	344807	broad.mit.edu	37	chr3	112545866	112545866	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaactttacggacagactcTtgttgccagtcaaatgggag	10	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:112545866T>G	ENST00000398214.1	-	4	878	c.653A>C	c.(652-654)aAg>aCg	p.K218T	CD200R1L_ENST00000448932.1_Missense_Mutation_p.K197T|CD200R1L_ENST00000488794.1_Missense_Mutation_p.K197T	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	218	Ig-like C2-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GGACAGACTCTTGTTGCCAGT	0.453																																						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.(589-591)aAg>aCg		CD200 receptor 1-like							66	70	69					3																	112545866		2198	4299	6497	SO:0001583	missense	344807					integral to membrane	receptor activity	g.chr3:112545866T>G	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.653A>C	3.37:g.112545866T>G	ENSP00000381272:p.Lys218Thr		Somatic				CD200R1L_ENST00000398214.1_Missense_Mutation_p.K218T|CD200R1L_ENST00000448932.1_Missense_Mutation_p.K197T	p.K197T			WXS	Illumina GAIIx	Phase_I	Q6Q8B3	MO2R2_HUMAN			6	1179	-			218			Ig-like C2-type.		Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	c.590A>C	CCDS43131.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652783	0.67472	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.19669	2.13;2.14;2.14	4.35	-5.23	0.02798	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.102810	0.06756	N	0.780925	T	0.32406	0.0828	M	0.72479	2.2	0.09310	N	1	D	0.57571	0.98	P	0.55577	0.779	T	0.43589	-0.9382	10	0.51188	T	0.08	.	7.651	0.28348	0.0:0.5737:0.1369:0.2894	.	218	Q6Q8B3	MO2R2_HUMAN	T	218;197;197	ENSP00000381272:K218T;ENSP00000418413:K197T;ENSP00000415132:K197T	ENSP00000381272:K218T	K	-	2	0	CD200R1L	114028556	0.000000	0.05858	0.020000	0.16555	0.550000	0.35303	-1.397000	0.02511	-0.792000	0.04480	-0.290000	0.09829	AAG		0.453	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		25	50	0	0	0	1	0	25	50					G	112545866	T	G	112545866	3	3	48	1	0	0	0	0	1	0	0	0	2984	1609	56	4	174	4	CD200R1L	3	112545866	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	210208	112545866	85476564	1016	5484										
CD200R1	131450	broad.mit.edu	37	chr3	112693688	112693688	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtagccctaggttagcagttCtccaagggcagagcatttct	11	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:112693688C>A	ENST00000471858.1	-	1	249	c.17G>T	c.(16-18)aGa>aTa	p.R6I	CD200R1_ENST00000440122.2_Missense_Mutation_p.R6I|CD200R1_ENST00000308611.3_Missense_Mutation_p.R6I|CD200R1_ENST00000295863.4_Missense_Mutation_p.R6I|CD200R1_ENST00000490004.1_Missense_Mutation_p.R6I	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	6					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)		p.R6I(1)		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						GTTAGCAGTTCTCCAAGGGCA	0.468																																						ENST00000471858.1																			1	Substitution - Missense(1)	p.R6I(1)	large_intestine(1)	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.(16-18)aGa>aTa		CD200 receptor 1							213	183	193					3																	112693688		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.chr3:112693688C>A	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.17G>T	3.37:g.112693688C>A	ENSP00000418928:p.Arg6Ile		Somatic				CD200R1_ENST00000308611.3_Missense_Mutation_p.R6I|CD200R1_ENST00000490004.1_Missense_Mutation_p.R6I|CD200R1_ENST00000440122.2_Missense_Mutation_p.R6I|CD200R1_ENST00000295863.4_Missense_Mutation_p.R6I	p.R6I	NM_170780.2	NP_740750.1	WXS	Illumina GAIIx	Phase_I	Q8TD46	MO2R1_HUMAN			1	249	-			6					B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	c.17G>T	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467398	0.63625	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.27557	2.17;2.26;1.92;1.66;1.72	5.66	3.46	0.39613	.	0.626729	0.13915	N	0.353946	T	0.23572	0.0570	L	0.41824	1.3	0.32706	N	0.512178	B;P;P;B;B	0.44380	0.121;0.713;0.834;0.261;0.379	B;B;B;B;B	0.41666	0.021;0.234;0.363;0.052;0.111	T	0.34104	-0.9842	10	0.51188	T	0.08	.	4.397	0.11367	0.2371:0.6287:0.0:0.1342	.	6;6;6;6;6	B4E2U2;Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;.;MO2R1_HUMAN;.	I	6	ENSP00000418928:R6I;ENSP00000311035:R6I;ENSP00000295863:R6I;ENSP00000405733:R6I;ENSP00000418801:R6I	ENSP00000295863:R6I	R	-	2	0	CD200R1	114176378	0.939000	0.31865	0.930000	0.37139	0.998000	0.95712	1.543000	0.36147	1.501000	0.48654	0.655000	0.94253	AGA		0.468	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		16	25	1	0	1.33834e-09	1	1.61283e-09	16	25					A	112693688	C	A	112693688	3	1	48	1	0	0	0	0	1	0	0	0	2983	913	32	2	1108	2	CD200R1	3	112693688	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	147822	112693688	85328742	1017	5485										
SIDT1	54847	broad.mit.edu	37	chr3	113327383	113327383	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attattccaacttccaattcGgtaattagaacttatatcta	3	8	1	1	rs193150297		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113327383G>A	ENST00000264852.4	+	17	2446	c.1720G>A	c.(1720-1722)Gac>Aac	p.D574N	SIDT1_ENST00000393830.3_Splice_Site_p.D574N|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	574					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						CTTCCAATTCGGTAATTAGAA	0.423													G|||	1	0.000199681	8e-04	0	5008	,	,		20947	0		0	False		,,,				2504	0					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.e17+1		SID1 transmembrane family, member 1							164	157	160					3																	113327383		2203	4300	6503	SO:0001630	splice_region_variant	54847					integral to membrane		g.chr3:113327383G>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.1720+1G>A	3.37:g.113327383G>A			Somatic				SIDT1_ENST00000393830.3_Splice_Site_p.D574_splice|SIDT1_ENST00000463226.1_3'UTR	p.D574_splice	NM_017699.2	NP_060169.2	WXS	Illumina GAIIx	Phase_I	Q9NXL6	SIDT1_HUMAN			17	2446	+			574					Q17RR4	Splice_Site	SNP	ENST00000264852.4	37	c.1720_splice	CCDS2974.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.2	4.507187	0.85282	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.51817	0.69;0.69	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	T	0.76111	0.3942	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.80741	-0.1247	10	0.66056	D	0.02	-19.2108	19.4278	0.94751	0.0:0.0:1.0:0.0	.	574;574	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	N	574	ENSP00000264852:D574N;ENSP00000377416:D574N	ENSP00000264852:D574N	D	+	1	0	SIDT1	114810073	1.000000	0.71417	0.980000	0.43619	0.208000	0.24298	9.789000	0.99068	2.595000	0.87683	0.557000	0.71058	GAC		0.423	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699	Missense_Mutation	29	50	0	0	0	1	0	29	50					A	113327383	G	A	113327383	5	1	48	1	0	0	0	0	0	0	1	0	14317	1130	39	1	1786	1	SIDT1	3	113327383	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	633695	113327383	84695047	1018	5486										
KIAA2018	205717	broad.mit.edu	37	chr3	113374248	113374248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgggatgagggctggagttCgagtggcactaggctgagta	18	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113374248C>T	ENST00000478658.1	-	5	6298	c.6281G>A	c.(6280-6282)cGa>cAa	p.R2094Q	KIAA2018_ENST00000316407.4_Missense_Mutation_p.R2094Q|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	2094						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						GGCTGGAGTTCGAGTGGCACT	0.443																																						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.(6280-6282)cGa>cAa		KIAA2018							80	81	81					3																	113374248		2036	4192	6228	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113374248C>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.6281G>A	3.37:g.113374248C>T	ENSP00000420721:p.Arg2094Gln		Somatic				KIAA2018_ENST00000478658.1_Missense_Mutation_p.R2094Q|KIAA2018_ENST00000491165.1_Intron	p.R2094Q	NM_001009899.2	NP_001009899.2	WXS	Illumina GAIIx	Phase_I	Q68DE3	K2018_HUMAN			7	6691	-			2094					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.6281G>A	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184910	0.78677	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.34472	1.36;1.36	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.49830	0.1580	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.52909	-0.8512	10	0.66056	D	0.02	-9.1775	19.132	0.93412	0.0:1.0:0.0:0.0	.	2094	Q68DE3	K2018_HUMAN	Q	2094	ENSP00000320794:R2094Q;ENSP00000420721:R2094Q	ENSP00000320794:R2094Q	R	-	2	0	KIAA2018	114856938	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.487000	0.81328	2.529000	0.85273	0.462000	0.41574	CGA		0.443	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		21	50	0	0	0	1	0	21	50					T	113374248	C	T	113374248	3	4	48	1	0	0	0	0	1	0	0	0	8277	884	31	1	460	1	KIAA2018	3	113374248	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	46865	113374248	84648182	1019	5487										
KIAA2018	205717	broad.mit.edu	37	chr3	113375981	113375981	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctgcatctgaacttcctgTtgcagagtcctctgttggtg	10	10	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113375981T>C	ENST00000478658.1	-	5	4565	c.4548A>G	c.(4546-4548)caA>caG	p.Q1516Q	KIAA2018_ENST00000316407.4_Silent_p.Q1516Q|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1516	Gln-rich.					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						GAACTTCCTGTTGCAGAGTCC	0.483																																						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.(4546-4548)caA>caG		KIAA2018							127	128	128					3																	113375981		2030	4203	6233	SO:0001819	synonymous_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113375981T>C	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.4548A>G	3.37:g.113375981T>C			Somatic				KIAA2018_ENST00000478658.1_Silent_p.Q1516Q|KIAA2018_ENST00000491165.1_Intron	p.Q1516Q	NM_001009899.2	NP_001009899.2	WXS	Illumina GAIIx	Phase_I	Q68DE3	K2018_HUMAN			7	4958	-			1516			Gln-rich.		Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	c.4548A>G	CCDS43133.1																																																																																				0.483	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		19	31	0	0	0	1	0	19	31					C	113375981	T	C	113375981	2	2	48	1	0	0	0	0	0	0	0	1	8277	1722	60	4		4	KIAA2018	3	113375981	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1733	113375981	84646449	1020	5488										
KIAA2018	205717	broad.mit.edu	37	chr3	113379382	113379382	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagagtgcttataggaatggTggccttccctactccagggg	13	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113379382T>C	ENST00000478658.1	-	5	1164	c.1147A>G	c.(1147-1149)Acc>Gcc	p.T383A	KIAA2018_ENST00000316407.4_Missense_Mutation_p.T383A|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	383						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						ATAGGAATGGTGGCCTTCCCT	0.443																																						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.(1147-1149)Acc>Gcc		KIAA2018							90	84	86					3																	113379382		1951	4131	6082	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113379382T>C	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.1147A>G	3.37:g.113379382T>C	ENSP00000420721:p.Thr383Ala		Somatic				KIAA2018_ENST00000478658.1_Missense_Mutation_p.T383A|KIAA2018_ENST00000491165.1_Intron	p.T383A	NM_001009899.2	NP_001009899.2	WXS	Illumina GAIIx	Phase_I	Q68DE3	K2018_HUMAN			7	1557	-			383					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.1147A>G	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	T	0.182	-1.061416	0.01950	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.14516	2.5;2.5	5.25	1.72	0.24424	.	0.804575	0.11441	N	0.563809	T	0.06554	0.0168	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44267	-0.9339	10	0.07990	T	0.79	-1.5226	7.1537	0.25624	0.0:0.3855:0.0:0.6145	.	383	Q68DE3	K2018_HUMAN	A	383	ENSP00000320794:T383A;ENSP00000420721:T383A	ENSP00000320794:T383A	T	-	1	0	KIAA2018	114862072	0.000000	0.05858	0.012000	0.15200	0.525000	0.34531	-0.038000	0.12144	0.263000	0.21812	0.528000	0.53228	ACC		0.443	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		4	60	0	0	0	1	0	4	60					C	113379382	T	C	113379382	3	2	48	1	0	0	0	0	1	0	0	0	8277	1696	59	4	5594	4	KIAA2018	3	113379382	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	3401	113379382	84643048	1021	5489										
GRAMD1C	54762	broad.mit.edu	37	chr3	113627897	113627897	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttaactagagtgccatcaaaGtcactggacttgaataaaaa	7	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113627897G>T	ENST00000358160.4	+	9	1374	c.882G>T	c.(880-882)aaG>aaT	p.K294N	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.K127N|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.K89N	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	294						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TGCCATCAAAGTCACTGGACT	0.333																																						ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.(880-882)aaG>aaT		GRAM domain containing 1C							78	84	82					3																	113627897		2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113627897G>T		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.882G>T	3.37:g.113627897G>T	ENSP00000350881:p.Lys294Asn		Somatic				GRAMD1C_ENST00000472026.1_Missense_Mutation_p.K127N|GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.K89N	p.K294N	NM_017577.4	NP_060047.3	WXS	Illumina GAIIx	Phase_I	Q8IYS0	GRM1C_HUMAN			9	1374	+			294					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.882G>T	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668582	0.47677	.	.	ENSG00000178075	ENST00000358160;ENST00000472026;ENST00000462838;ENST00000440446	T;T;T	0.46063	1.49;0.91;0.88	5.37	0.0559	0.14317	.	0.385548	0.28388	N	0.015536	T	0.32376	0.0827	L	0.53249	1.67	0.09310	N	0.999998	B;B	0.32245	0.355;0.361	B;B	0.32980	0.156;0.054	T	0.23084	-1.0198	10	0.17832	T	0.49	.	9.4567	0.38758	0.6843:0.0:0.3157:0.0	.	127;294	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	N	294;127;89;89	ENSP00000350881:K294N;ENSP00000419132:K127N;ENSP00000408135:K89N	ENSP00000350881:K294N	K	+	3	2	GRAMD1C	115110587	0.914000	0.31030	0.271000	0.24616	0.882000	0.50991	0.877000	0.28106	0.111000	0.17947	-0.455000	0.05494	AAG		0.333	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		20	37	1	0	1.55795e-14	1	2.03067e-14	20	37					T	113627897	G	T	113627897	3	4	48	1	0	0	0	0	1	0	0	0	6758	1020	36	5	916	5	GRAMD1C	3	113627897	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	248515	113627897	84394533	1022	5490										
GRAMD1C	54762	broad.mit.edu	37	chr3	113634593	113634593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggaagactttttatcaaccGtatttttcatatcagtgctg	7	7	3	1	rs550686355		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113634593G>A	ENST00000358160.4	+	10	1490	c.998G>A	c.(997-999)cGt>cAt	p.R333H	GRAMD1C_ENST00000452134.2_Missense_Mutation_p.R62H|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.R166H|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.R128H	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	333						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TTTATCAACCGTATTTTTCAT	0.323																																						ENST00000358160.4																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.(997-999)cGt>cAt		GRAM domain containing 1C							94	94	94					3																	113634593		2202	4295	6497	SO:0001583	missense	54762					integral to membrane		g.chr3:113634593G>A		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.998G>A	3.37:g.113634593G>A	ENSP00000350881:p.Arg333His		Somatic				GRAMD1C_ENST00000472026.1_Missense_Mutation_p.R166H|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.R62H|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.R128H	p.R333H	NM_017577.4	NP_060047.3	WXS	Illumina GAIIx	Phase_I	Q8IYS0	GRM1C_HUMAN			10	1490	+			333					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.998G>A	CCDS33826.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.33|17.33	3.363287|3.363287	0.61513|0.61513	.|.	.|.	ENSG00000178075|ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000462838;ENST00000440446|ENST00000488680	T;T;T;T|.	0.46819|.	1.49;0.86;0.89;0.86|.	5.98|5.98	5.1|5.1	0.69264|0.69264	.|.	0.233267|.	0.41938|.	D|.	0.000798|.	T|T	0.57651|0.57651	0.2068|0.2068	L|L	0.31845|0.31845	0.965|0.965	0.45403|0.45403	D|D	0.998383|0.998383	B;B|.	0.29955|.	0.263;0.14|.	B;B|.	0.24155|.	0.051;0.015|.	T|T	0.60068|0.60068	-0.7335|-0.7335	10|6	0.54805|0.87932	T|D	0.06|0	.|.	12.7739|12.7739	0.57436|0.57436	0.0783:0.0:0.9217:0.0|0.0783:0.0:0.9217:0.0	.|.	166;333|.	E9PHT3;Q8IYS0|.	.;GRM1C_HUMAN|.	H|I	333;62;166;128;128|33	ENSP00000350881:R333H;ENSP00000399844:R62H;ENSP00000419132:R166H;ENSP00000408135:R128H|.	ENSP00000350881:R333H|ENSP00000419571:V33I	R|V	+|+	2|1	0|0	GRAMD1C|GRAMD1C	115117283|115117283	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	5.206000|5.206000	0.65192|0.65192	2.838000|2.838000	0.97847|0.97847	0.655000|0.655000	0.94253|0.94253	CGT|GTA		0.323	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		10	28	0	0	0	1	0	10	28					A	113634593	G	A	113634593	3	1	48	1	0	0	0	0	1	0	0	0	6758	1145	40	1	1036	1	GRAMD1C	3	113634593	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	6696	113634593	84387837	1023	5491										
QTRTD1	79691	broad.mit.edu	37	chr3	113789594	113789594	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgatggagaagtatcttgtaAggaagcaacttccataaaaa	9	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113789594A>C	ENST00000493014.1	+	2	205	c.137A>C	c.(136-138)aAg>aCg	p.K46T	QTRTD1_ENST00000281273.4_Missense_Mutation_p.K152T|QTRTD1_ENST00000466050.1_3'UTR|QTRTD1_ENST00000479882.1_Missense_Mutation_p.K29T|QTRTD1_ENST00000485050.1_Missense_Mutation_p.K164T	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GTATCTTGTAAGGAAGCAACT	0.483																																						ENST00000281273.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						c.(454-456)aAg>aCg		queuine tRNA-ribosyltransferase domain containing 1							111	101	104					3																	113789594		2203	4300	6503	SO:0001583	missense	79691				queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr3:113789594A>C	AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.137A>C	3.37:g.113789594A>C	ENSP00000419169:p.Lys46Thr		Somatic				QTRTD1_ENST00000485050.1_Missense_Mutation_p.K164T|QTRTD1_ENST00000479882.1_Missense_Mutation_p.K29T|QTRTD1_ENST00000466050.1_3'UTR|QTRTD1_ENST00000493014.1_Missense_Mutation_p.K46T	p.K152T	NM_024638.3	NP_078914.1	WXS	Illumina GAIIx	Phase_I	Q9H974	QTRD1_HUMAN			6	712	+			152						Missense_Mutation	SNP	ENST00000493014.1	37	c.455A>C	CCDS58845.1	.	.	.	.	.	.	.	.	.	.	A	7.287	0.610224	0.14066	.	.	ENSG00000151576	ENST00000472599;ENST00000485050;ENST00000281273;ENST00000479882;ENST00000493014	.	.	.	5.5	-6.17	0.02091	.	0.770068	0.12196	N	0.490778	T	0.09818	0.0241	N	0.00841	-1.15	0.09310	N	1	B;B;B;B	0.13145	0.007;0.0;0.004;0.0	B;B;B;B	0.15484	0.013;0.001;0.006;0.006	T	0.34104	-0.9842	9	0.62326	D	0.03	0.2023	8.248	0.31700	0.1023:0.7322:0.0943:0.0712	.	46;29;166;152	B7Z472;B7Z5R2;C9JJ71;Q9H974	.;.;.;QTRD1_HUMAN	T	166;164;152;29;46	.	ENSP00000281273:K152T	K	+	2	0	QTRTD1	115272284	0.072000	0.21174	0.000000	0.03702	0.488000	0.33401	1.129000	0.31381	-0.488000	0.06726	0.459000	0.35465	AAG		0.483	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000354711.1	NM_024638		27	44	0	0	0	1	0	27	44					C	113789594	A	C	113789594	3	2	48	1	0	0	0	0	1	0	0	0	12901	72	3	4	469	4	QTRTD1	3	113789594	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	155001	113789594	84232836	1024	5492										
ZBTB20	26137	broad.mit.edu	37	chr3	114057897	114057897	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtggtcgttgaactgctcGatttggtcaaactttgctgg	12	7	1	1	rs539937857		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:114057897G>A	ENST00000474710.1	-	5	2359	c.2181C>T	c.(2179-2181)atC>atT	p.I727I	ZBTB20_ENST00000357258.3_Silent_p.I654I|ZBTB20_ENST00000464560.1_Silent_p.I654I|ZBTB20_ENST00000481632.1_Silent_p.I654I|ZBTB20_ENST00000462705.1_Silent_p.I654I|ZBTB20_ENST00000393785.2_Silent_p.I654I|ZBTB20_ENST00000471418.1_Silent_p.I654I	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	727						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)		TGAACTGCTCGATTTGGTCAA	0.522													G|||	1	0.000199681	0	0.0014	5008	,	,		18291	0		0	False		,,,				2504	0				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.(1960-1962)atC>atT		zinc finger and BTB domain containing 20							80	78	79					3																	114057897		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114057897G>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.2181C>T	3.37:g.114057897G>A			Somatic				ZBTB20_ENST00000357258.3_Silent_p.I654I|ZBTB20_ENST00000474710.1_Silent_p.I727I|ZBTB20_ENST00000393785.2_Silent_p.I654I|ZBTB20_ENST00000481632.1_Silent_p.I654I|ZBTB20_ENST00000471418.1_Silent_p.I654I|ZBTB20_ENST00000464560.1_Silent_p.I654I	p.I654I	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)	12	2783	-			727					Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.1962C>T	CCDS54626.1																																																																																				0.522	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		29	63	0	0	0	1	0	29	63					A	114057897	G	A	114057897	2	1	48	1	0	0	0	0	0	0	0	1	17544	1048	37	1		1	ZBTB20	3	114057897	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	268303	114057897	83964533	1025	5493										
C3orf30	152405	broad.mit.edu	37	chr3	118865185	118865185	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agataaccacactgctcacaGaatagctgaccagactgccc	7	14	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:118865185G>A	ENST00000295622.1	+	1	189	c.149G>A	c.(148-150)aGa>aAa	p.R50K	IGSF11_ENST00000425327.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	50										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACTGCTCACAGAATAGCTGAC	0.532																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(148-150)aGa>aAa		chromosome 3 open reading frame 30							95	65	75					3																	118865185		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865185G>A	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.149G>A	3.37:g.118865185G>A	ENSP00000295622:p.Arg50Lys		Somatic					p.R50K	NM_152539.2	NP_689752.2	WXS	Illumina GAIIx	Phase_I	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	189	+			50					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.149G>A	CCDS2984.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603279	0.66445	.	.	ENSG00000163424	ENST00000295622;ENST00000470341	T	0.21543	2.0	4.02	0.801	0.18679	.	0.983444	0.08256	N	0.973840	T	0.13114	0.0318	L	0.34521	1.04	0.09310	N	1	B;B	0.33044	0.395;0.395	B;B	0.32289	0.143;0.143	T	0.33727	-0.9857	10	0.13853	T	0.58	0.3483	4.9986	0.14253	0.2448:0.1726:0.5826:0.0	.	50;50	E9PFE5;Q96M34	.;CC030_HUMAN	K	50	ENSP00000295622:R50K	ENSP00000295622:R50K	R	+	2	0	C3orf30	120347875	0.000000	0.05858	0.000000	0.03702	0.210000	0.24377	0.120000	0.15647	0.147000	0.19030	0.655000	0.94253	AGA		0.532	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		20	48	0	0	0	1	0	20	48					A	118865185	G	A	118865185	3	1	48	1	0	0	0	0	1	0	0	0	2222	942	33	3	151	3	C3orf30	3	118865185	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4807288	118865185	79157245	1026	5494										
C3orf30	152405	broad.mit.edu	37	chr3	118865848	118865848	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaagttaggagaagaagttCtgagaagactgactacagat	12	4	1	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:118865848C>A	ENST00000295622.1	+	1	852	c.812C>A	c.(811-813)tCt>tAt	p.S271Y	IGSF11_ENST00000425327.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	271										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGAAGAAGTTCTGAGAAGACT	0.488																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(811-813)tCt>tAt		chromosome 3 open reading frame 30							83	82	82					3																	118865848		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865848C>A	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.812C>A	3.37:g.118865848C>A	ENSP00000295622:p.Ser271Tyr		Somatic					p.S271Y	NM_152539.2	NP_689752.2	WXS	Illumina GAIIx	Phase_I	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	852	+			271					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.812C>A	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.54|11.54	1.667710|1.667710	0.29604|0.29604	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000460150;ENST00000473121;ENST00000492792|ENST00000295622;ENST00000470341	.|T	.|0.50548	.|0.74	2.42|2.42	-0.667|-0.667	0.11395|0.11395	.|.	.|.	.|.	.|.	.|.	T|T	0.33469|0.33469	0.0864|0.0864	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|P;P	.|0.41784	.|0.762;0.762	.|B;B	.|0.35353	.|0.201;0.201	T|T	0.32134|0.32134	-0.9918|-0.9918	5|9	.|0.62326	.|D	.|0.03	-2.1205|-2.1205	0.492|0.492	0.00565|0.00565	0.1965:0.3503:0.1933:0.26|0.1965:0.3503:0.1933:0.26	.|.	.|271;271	.|E9PFE5;Q96M34	.|.;CC030_HUMAN	L|Y	234;63;5|271	.|ENSP00000295622:S271Y	.|ENSP00000295622:S271Y	F|S	+|+	3|2	2|0	C3orf30|C3orf30	120348538|120348538	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	-0.115000|-0.115000	0.10741|0.10741	-0.179000|-0.179000	0.10654|0.10654	0.467000|0.467000	0.42956|0.42956	TTC|TCT		0.488	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		45	49	1	0	2.95478e-19	1	4.01807e-19	45	49					A	118865848	C	A	118865848	3	1	48	1	0	0	0	0	1	0	0	0	2222	913	32	2	814	2	C3orf30	3	118865848	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	663	118865848	79156582	1027	5495										
B4GALT4	8702	broad.mit.edu	37	chr3	118948740	118948740	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgtcaagttctaccttcttCgtggatgcttcattagtcag	8	9	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:118948740C>T	ENST00000483209.1	-	3	848	c.207G>A	c.(205-207)acG>acA	p.T69T	B4GALT4_ENST00000467604.1_Silent_p.T69T|B4GALT4_ENST00000471675.1_Silent_p.T22T|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000359213.3_Silent_p.T69T|B4GALT4_ENST00000460321.1_Intron|B4GALT4_ENST00000393765.2_Silent_p.T69T			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	69					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)	CTACCTTCTTCGTGGATGCTT	0.388																																						ENST00000467604.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14						c.(205-207)acG>acA		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	N-Acetyl-D-glucosamine(DB00141)						145	134	138					3																	118948740		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:118948740C>T	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.207G>A	3.37:g.118948740C>T			Somatic				B4GALT4_ENST00000359213.3_Silent_p.T69T|B4GALT4_ENST00000483209.1_Silent_p.T69T|B4GALT4_ENST00000460321.1_Intron|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000471675.1_Silent_p.T22T|B4GALT4_ENST00000393765.2_Silent_p.T69T	p.T69T			WXS	Illumina GAIIx	Phase_I	O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	3	598	-			69					Q68D68|Q9BSW3|Q9C078	Silent	SNP	ENST00000483209.1	37	c.207G>A	CCDS2986.1																																																																																				0.388	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		4	42	0	0	0	1	0	4	42					T	118948740	C	T	118948740	2	4	48	1	0	0	0	0	0	0	0	1	1273	871	31	1		1	B4GALT4	3	118948740	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	82892	118948740	79073690	1028	5496										
ARHGAP31	57514	broad.mit.edu	37	chr3	119134773	119134773	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagagcgaccatctgggggtTctaagcctttccacaggtca	11	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119134773T>C	ENST00000264245.4	+	12	4529	c.3997T>C	c.(3997-3999)Tct>Cct	p.S1333P		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1333					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						ATCTGGGGGTTCTAAGCCTTT	0.517																																					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.(3997-3999)Tct>Cct		Rho GTPase activating protein 31							103	108	106					3																	119134773		1906	4117	6023	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119134773T>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.3997T>C	3.37:g.119134773T>C	ENSP00000264245:p.Ser1333Pro		Somatic					p.S1333P	NM_020754.2	NP_065805.2	WXS	Illumina GAIIx	Phase_I	Q2M1Z3	RHG31_HUMAN			12	4529	+			1333					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.3997T>C	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.811230	0.32053	.	.	ENSG00000031081	ENST00000264245	T	0.55588	0.51	5.74	4.38	0.52667	.	0.103046	0.43919	N	0.000520	T	0.35885	0.0947	N	0.19112	0.55	0.40290	D	0.978497	B	0.17465	0.022	B	0.14578	0.011	T	0.14559	-1.0468	10	0.46703	T	0.11	.	9.2554	0.37579	0.0:0.1094:0.0:0.8906	.	1333	Q2M1Z3	RHG31_HUMAN	P	1333	ENSP00000264245:S1333P	ENSP00000264245:S1333P	S	+	1	0	ARHGAP31	120617463	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	3.164000	0.50770	0.904000	0.36572	0.460000	0.39030	TCT		0.517	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			35	90	0	0	0	1	0	35	90					C	119134773	T	C	119134773	3	2	48	1	0	0	0	0	1	0	0	0	880	1783	62	4	4043	4	ARHGAP31	3	119134773	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	186033	119134773	78887657	1029	5497										
TMEM39A	55254	broad.mit.edu	37	chr3	119165904	119165904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gattgaggactgaatggcttCgaaagagattgacgagggtc	15	5	0	4	rs559521023		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119165904C>T	ENST00000319172.5	-	5	956	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	TMEM39A_ENST00000486159.1_Intron	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	179						integral component of membrane (GO:0016021)		p.R179Q(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		TGAATGGCTTCGAAAGAGATT	0.418													C|||	1	0.000199681	0	0	5008	,	,		18325	0.001		0	False		,,,				2504	0					ENST00000319172.5																			1	Substitution - Missense(1)	p.R179Q(1)	NS(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(535-537)cGa>cAa		transmembrane protein 39A							124	109	114					3																	119165904		2203	4300	6503	SO:0001583	missense	55254					integral to membrane		g.chr3:119165904C>T	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.536G>A	3.37:g.119165904C>T	ENSP00000326063:p.Arg179Gln		Somatic				TMEM39A_ENST00000486159.1_Intron	p.R179Q	NM_018266.1	NP_060736.1	WXS	Illumina GAIIx	Phase_I	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	5	956	-			179					D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.536G>A	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075009	0.55646	.	.	ENSG00000176142	ENST00000319172;ENST00000468676	T	0.42900	0.96	5.07	3.25	0.37280	.	0.124291	0.52532	N	0.000069	T	0.21022	0.0506	N	0.21373	0.66	0.45594	D	0.998537	P	0.47604	0.898	B	0.32533	0.147	T	0.02781	-1.1111	10	0.27785	T	0.31	-2.0E-4	8.9932	0.36037	0.1483:0.7746:0.0:0.0772	.	179	Q9NV64	TM39A_HUMAN	Q	179	ENSP00000326063:R179Q	ENSP00000326063:R179Q	R	-	2	0	TMEM39A	120648594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.843000	0.39259	0.683000	0.31428	0.563000	0.77884	CGA		0.418	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		20	30	0	0	0	1	0	20	30					T	119165904	C	T	119165904	3	4	48	1	0	0	0	0	1	0	0	0	16176	884	31	1	950	1	TMEM39A	3	119165904	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	31131	119165904	78856526	1030	5498										
CD80	941	broad.mit.edu	37	chr3	119256042	119256042	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccatacttgatgagacacatGaagctgtggttggttgtcat	11	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119256042G>T	ENST00000264246.3	-	4	1004	c.642C>A	c.(640-642)ttC>ttA	p.F214L	CD80_ENST00000478182.1_Missense_Mutation_p.F214L|CD80_ENST00000383668.3_Intron|CD80_ENST00000383669.3_Missense_Mutation_p.F214L	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	214	Ig-like C2-type.				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)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	TGAGACACATGAAGCTGTGGT	0.388																																					Melanoma(132;135 1764 1806 5833 14593)	ENST00000264246.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(640-642)ttC>ttA		CD80 molecule	Abatacept(DB01281)						226	202	210					3																	119256042		2203	4300	6503	SO:0001583	missense	941				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding	g.chr3:119256042G>T		CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1700	protein-coding gene	gene with protein product	"B-lymphocyte activation antigen B7"	112203	"CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)", "CD80 molecule "	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.642C>A	3.37:g.119256042G>T	ENSP00000264246:p.Phe214Leu		Somatic				CD80_ENST00000383668.3_Intron|CD80_ENST00000383669.3_Missense_Mutation_p.F214L|CD80_ENST00000478182.1_Missense_Mutation_p.F214L	p.F214L	NM_005191.3	NP_005182.1	WXS	Illumina GAIIx	Phase_I	P33681	CD80_HUMAN			4	1004	-			214			Ig-like C2-type.		Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	c.642C>A	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342977	0.41498	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669	T;T;T	0.15952	2.38;2.38;2.38	5.19	-4.51	0.03483	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.250695	0.28317	N	0.015789	T	0.14743	0.0356	M	0.67953	2.075	0.19775	N	0.99995	P;P	0.43352	0.67;0.804	B;B	0.40982	0.205;0.345	T	0.10543	-1.0625	10	0.54805	T	0.06	-14.7647	7.017	0.24892	0.5699:0.0:0.3069:0.1232	.	214;214	Q5DTB0;P33681	.;CD80_HUMAN	L	214	ENSP00000264246:F214L;ENSP00000418364:F214L;ENSP00000373165:F214L	ENSP00000264246:F214L	F	-	3	2	CD80	120738732	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.006000	0.01459	-0.489000	0.06716	-0.128000	0.14901	TTC		0.388	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191		31	66	1	0	2.61193e-14	1	3.39424e-14	31	66					T	119256042	G	T	119256042	3	4	48	1	0	0	0	0	1	0	0	0	3040	1281	45	2	236	2	CD80	3	119256042	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	90138	119256042	78766388	1031	5499										
ADPRH	141	broad.mit.edu	37	chr3	119306657	119306657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaaactagaatacagaaacCggctggaagagacagctagg	12	7	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119306657C>T	ENST00000478399.1	+	4	2411	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Missense_Mutation_p.R336W|ADPRH_ENST00000478927.1_Missense_Mutation_p.R336W|ADPRH_ENST00000357003.3_Missense_Mutation_p.R336W			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	336					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		ATACAGAAACCGGCTGGAAGA	0.448																																					GBM(133;579 1804 5989 9967 40052)	ENST00000478399.1																			0				breast(1)|kidney(1)|lung(10)|ovary(1)	13						c.(1006-1008)Cgg>Tgg		ADP-ribosylarginine hydrolase							74	79	77					3																	119306657		2203	4300	6503	SO:0001583	missense	141				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr3:119306657C>T	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.1006C>T	3.37:g.119306657C>T	ENSP00000420200:p.Arg336Trp		Somatic				ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000478927.1_Missense_Mutation_p.R336W|ADPRH_ENST00000465513.1_Missense_Mutation_p.R336W|ADPRH_ENST00000357003.3_Missense_Mutation_p.R336W	p.R336W			WXS	Illumina GAIIx	Phase_I	P54922	ADPRH_HUMAN		GBM - Glioblastoma multiforme(114;0.23)	4	2411	+		Lung NSC(201;0.0977)	336					B2R8H1|D3DN83	Missense_Mutation	SNP	ENST00000478399.1	37	c.1006C>T	CCDS2990.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781079	0.70222	.	.	ENSG00000144843	ENST00000478399;ENST00000478927;ENST00000357003;ENST00000465513	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	6.05	2.88	0.33553	.	0.000000	0.85682	D	0.000000	T	0.52075	0.1712	M	0.68317	2.08	0.53005	D	0.999965	D	0.89917	1.0	D	0.79108	0.992	T	0.56390	-0.7987	10	0.59425	D	0.04	-15.5832	14.5378	0.67973	0.404:0.596:0.0:0.0	.	336	P54922	ADPRH_HUMAN	W	336	ENSP00000420200:R336W;ENSP00000417528:R336W;ENSP00000349496:R336W;ENSP00000417430:R336W	ENSP00000349496:R336W	R	+	1	2	ADPRH	120789347	0.073000	0.21202	0.573000	0.28510	0.980000	0.70556	0.405000	0.21015	0.816000	0.34421	0.650000	0.86243	CGG		0.448	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		24	64	0	0	0	1	0	24	64					T	119306657	C	T	119306657	3	4	48	1	0	0	0	0	1	0	0	0	331	643	23	1	1016	1	ADPRH	3	119306657	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	50615	119306657	78715773	1032	5500										
PLA1A	51365	broad.mit.edu	37	chr3	119316770	119316770	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagctcagcgatgcccccaGgtccctgggagagctgcttc	12	16	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119316770G>T	ENST00000273371.4	+	1	82	c.10G>T	c.(10-12)Ggt>Tgt	p.G4C	PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000495992.1_Missense_Mutation_p.G4C|PLA1A_ENST00000494440.1_5'Flank	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	4					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATGCCCCCAGGTCCCTGGGA	0.542																																						ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(10-12)Ggt>Tgt		phospholipase A1 member A							35	34	34					3																	119316770		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119316770G>T	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.10G>T	3.37:g.119316770G>T	ENSP00000273371:p.Gly4Cys		Somatic				PLA1A_ENST00000495992.1_Missense_Mutation_p.G4C|PLA1A_ENST00000488919.1_5'UTR	p.G4C	NM_015900.3	NP_056984.1	WXS	Illumina GAIIx	Phase_I	Q53H76	PLA1A_HUMAN			1	82	+			4					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.10G>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324712	0.60634	.	.	ENSG00000144837	ENST00000273371;ENST00000495992	D;D	0.90444	-2.67;-2.67	5.18	2.22	0.28083	.	.	.	.	.	D	0.88470	0.6445	L	0.29908	0.895	0.09310	N	1	D;D	0.63046	0.992;0.986	P;P	0.55999	0.789;0.62	T	0.78763	-0.2077	9	0.87932	D	0	-2.9765	5.9929	0.19476	0.3246:0.0:0.6754:0.0	.	4;4	Q53H76-3;Q53H76	.;PLA1A_HUMAN	C	4	ENSP00000273371:G4C;ENSP00000417326:G4C	ENSP00000273371:G4C	G	+	1	0	PLA1A	120799460	0.008000	0.16893	0.004000	0.12327	0.322000	0.28314	0.806000	0.27126	0.775000	0.33450	0.655000	0.94253	GGT		0.542	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			4	14	1	0	0.00024832	1	0.000265255	4	14					T	119316770	G	T	119316770	3	4	48	1	0	0	0	0	1	0	0	0	11997	1000	35	5	12	5	PLA1A	3	119316770	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	10113	119316770	78705660	1033	5501										
C3orf15	89876	broad.mit.edu	37	chr3	119451299	119451299	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagaggactttgtagtaaaaAactactatctcaacacctat	5	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119451299A>C	ENST00000273390.5	+	9	1254	c.1177A>C	c.(1177-1179)Aac>Cac	p.N393H		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	0						mitochondrion (GO:0005739)											TGTAGTAAAAAACTACTATCT	0.338																																						ENST00000273390.5																			0											c.(1177-1179)Aac>Cac		MYCBP-associated, testis expressed 1							36	37	37					3																	119451299		2203	4300	6503	SO:0001583	missense	89876							g.chr3:119451299A>C	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1177A>C	3.37:g.119451299A>C	ENSP00000273390:p.Asn393His		Somatic					p.N393H	NM_033364.3	NP_203528.2	WXS	Illumina GAIIx	Phase_I					9	1254	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1177A>C	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281318	0.80692	.	.	ENSG00000183833	ENST00000273390	T	0.23552	1.9	5.7	5.7	0.88788	.	0.229124	0.46758	D	0.000276	T	0.44932	0.1317	L	0.48362	1.52	0.80722	D	1	D;D;D;D	0.89917	0.998;0.991;1.0;1.0	D;P;D;D	0.76575	0.961;0.759;0.988;0.988	T	0.26395	-1.0104	10	0.46703	T	0.11	-7.9189	15.9631	0.79945	1.0:0.0:0.0:0.0	.	154;331;393;393	Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	.;.;.;.	H	393	ENSP00000273390:N393H	ENSP00000273390:N393H	N	+	1	0	C3orf15	120933989	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.107000	0.89557	2.161000	0.67846	0.533000	0.62120	AAC		0.338	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		7	13	0	0	0	1	0	7	13					C	119451299	A	C	119451299	3	2	48	1	0	0	0	0	1	0	0	0	2211	14	1	4	1211	4	C3orf15	3	119451299	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	134529	119451299	78571131	1034	5502										
GTF2E1	2960	broad.mit.edu	37	chr3	120469578	120469578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttgatcggaagcaacttcGatcagttttgaataatttaa	8	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:120469578G>A	ENST00000283875.5	+	2	272	c.179G>A	c.(178-180)cGa>cAa	p.R60Q		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	60	HTH TFE/IIEalpha-type. {ECO:0000255|PROSITE-ProRule:PRU00676}.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAGCAACTTCGATCAGTTTTG	0.453																																						ENST00000283875.5																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22						c.(178-180)cGa>cAa		general transcription factor IIE, polypeptide 1, alpha 56kDa							97	92	94					3																	120469578		2203	4300	6503	SO:0001583	missense	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120469578G>A	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"General transcription factors"	4650	protein-coding gene	gene with protein product		189962	"general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.179G>A	3.37:g.120469578G>A	ENSP00000283875:p.Arg60Gln		Somatic					p.R60Q	NM_005513.2	NP_005504.2	WXS	Illumina GAIIx	Phase_I	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	2	272	+			60			HTH TFE/IIEalpha-type.		Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	c.179G>A	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	36	5.657442	0.96724	.	.	ENSG00000153767	ENST00000283875;ENST00000492959	T	0.55930	0.49	5.92	5.92	0.95590	TFIIEalpha/SarR/Rpc3 HTH domain (1);Transcription factor TFE/TFIIEalpha HTH domain (1);	0.000000	0.85682	D	0.000000	T	0.77068	0.4076	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77938	-0.2400	9	.	.	.	-16.6536	19.2962	0.94122	0.0:0.0:1.0:0.0	.	60;60	P29083;Q53F88	T2EA_HUMAN;.	Q	60	ENSP00000283875:R60Q	.	R	+	2	0	GTF2E1	121952268	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.845000	0.99498	2.795000	0.96236	0.655000	0.94253	CGA		0.453	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		23	41	0	0	0	1	0	23	41					A	120469578	G	A	120469578	3	1	48	1	0	0	0	0	1	0	0	0	6865	1058	37	1	181	1	GTF2E1	3	120469578	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1018279	120469578	77552852	1035	5503										
POLQ	10721	broad.mit.edu	37	chr3	121207791	121207791	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccatctgttgtattattttCtctgactgagtatccagata	7	8	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:121207791C>A	ENST00000264233.5	-	16	4115	c.3987G>T	c.(3985-3987)gaG>gaT	p.E1329D		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1329					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)		GTATTATTTTCTCTGACTGAG	0.373								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.(3985-3987)gaG>gaT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							166	149	155					3																	121207791		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.chr3:121207791C>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3987G>T	3.37:g.121207791C>A	ENSP00000264233:p.Glu1329Asp		Somatic					p.E1329D	NM_199420.3	NP_955452.3	WXS	Illumina GAIIx	Phase_I	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	4115	-			1329					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.3987G>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721581	0.68959	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.57107	0.42	6.11	1.08	0.20341	.	0.102413	0.64402	N	0.000004	T	0.55513	0.1925	L	0.36672	1.1	0.27846	N	0.940918	D;D	0.89917	0.999;1.0	P;D	0.83275	0.88;0.996	T	0.48410	-0.9038	10	0.62326	D	0.03	.	5.4042	0.16312	0.3368:0.4752:0.0:0.188	.	1329;501	O75417;O75417-2	DPOLQ_HUMAN;.	D	952;1329;1465	ENSP00000264233:E1329D	ENSP00000264233:E1329D	E	-	3	2	POLQ	122690481	1.000000	0.71417	0.979000	0.43373	0.825000	0.46686	0.733000	0.26087	-0.084000	0.12595	-0.181000	0.13052	GAG		0.373	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		23	37	1	0	1.55795e-14	1	2.03067e-14	23	37					A	121207791	C	A	121207791	3	1	48	1	0	0	0	0	1	0	0	0	12217	912	32	2	3845	2	POLQ	3	121207791	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	738213	121207791	76814639	1036	5504										
GOLGB1	2804	broad.mit.edu	37	chr3	121410023	121410023	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgctgtgagacctttattttCtttggtgaccatgagtaatt	9	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:121410023C>A	ENST00000340645.5	-	14	8298	c.8173G>T	c.(8173-8175)Gaa>Taa	p.E2725*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.E2730*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2725					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)		CCTTTATTTTCTTTGGTGACC	0.398																																						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.(8188-8190)Gaa>Taa		golgin B1							233	239	237					3																	121410023		2203	4300	6503	SO:0001587	stop_gained	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121410023C>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8173G>T	3.37:g.121410023C>A	ENSP00000341848:p.Glu2725*		Somatic				GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.E2725*	p.E2730*	NM_001256486.1	NP_001243415.1	WXS	Illumina GAIIx	Phase_I	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	8298	-			2725					B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	37	c.8188G>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	49	15.016621	0.99819	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	.	.	.	5.72	4.85	0.62838	.	0.091282	0.47852	D	0.000215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	12.2564	0.54627	0.0:0.9179:0.0:0.0821	.	.	.	.	X	2725;2730	.	ENSP00000341848:E2725X	E	-	1	0	GOLGB1	122892713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.505000	0.66981	1.412000	0.46977	0.655000	0.94253	GAA		0.398	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		61	116	1	0	2.50483e-33	1	3.59302e-33	61	116					A	121410023	C	A	121410023	4	1	48	1	0	0	0	0	0	1	0	0	6573	922	32	2	1642	2	GOLGB1	3	121410023	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	202232	121410023	76612407	1037	5505										
GOLGB1	2804	broad.mit.edu	37	chr3	121416558	121416558	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggataataaatttagctgttCtttaagagtcttaatttcaa	6	4	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:121416558C>T	ENST00000340645.5	-	13	2922	c.2797G>A	c.(2797-2799)Gaa>Aaa	p.E933K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E938K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	933					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)		TTTAGCTGTTCTTTAAGAGTC	0.348																																						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.(2812-2814)Gaa>Aaa		golgin B1							93	102	99					3																	121416558		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121416558C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2797G>A	3.37:g.121416558C>T	ENSP00000341848:p.Glu933Lys		Somatic				GOLGB1_ENST00000340645.5_Missense_Mutation_p.E933K	p.E938K	NM_001256486.1	NP_001243415.1	WXS	Illumina GAIIx	Phase_I	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	2922	-			933					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.2812G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287010	0.59867	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.28069	2.23;2.24;1.63	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000004	T	0.51719	0.1691	M	0.64997	1.995	0.53688	D	0.999974	D;D;D;D;D	0.89917	0.998;1.0;0.998;0.998;1.0	D;D;D;D;D	0.91635	0.994;0.988;0.994;0.991;0.999	T	0.30504	-0.9976	10	0.22706	T	0.39	.	16.6023	0.84819	0.0:1.0:0.0:0.0	.	858;897;938;938;933	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	K	933;938;897;745	ENSP00000341848:E933K;ENSP00000377275:E938K;ENSP00000418231:E897K	ENSP00000341848:E933K	E	-	1	0	GOLGB1	122899248	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.851000	0.48302	2.780000	0.95670	0.655000	0.94253	GAA		0.348	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		7	64	0	0	0	1	0	7	64					T	121416558	C	T	121416558	3	4	48	1	0	0	0	0	1	0	0	0	6573	922	32	3	7022	3	GOLGB1	3	121416558	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	6535	121416558	76605872	1038	5506										
GOLGB1	2804	broad.mit.edu	37	chr3	121448762	121448762	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacatccttctgtctaataaTatcttttagctccaccacca	2	13	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:121448762T>C	ENST00000340645.5	-	3	324	c.199A>G	c.(199-201)Att>Gtt	p.I67V	GOLGB1_ENST00000472829.1_5'UTR|GOLGB1_ENST00000393667.3_Missense_Mutation_p.I67V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	67					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)		TGTCTAATAATATCTTTTAGC	0.383																																						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.(199-201)Att>Gtt		golgin B1							164	153	156					3																	121448762		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121448762T>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.199A>G	3.37:g.121448762T>C	ENSP00000341848:p.Ile67Val		Somatic				GOLGB1_ENST00000340645.5_Missense_Mutation_p.I67V|GOLGB1_ENST00000472829.1_5'UTR	p.I67V	NM_001256486.1	NP_001243415.1	WXS	Illumina GAIIx	Phase_I	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	3	309	-			67					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.199A>G	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.162|8.162	0.789674|0.789674	0.16258|0.16258	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000489400|ENST00000340645;ENST00000393667;ENST00000494517	.|T;T;T	.|0.22336	.|2.56;2.56;1.96	5.25|5.25	-10.5|-10.5	0.00291|0.00291	.|.	1.316990|1.316990	0.04944|0.04944	N|N	0.459067|0.459067	T|T	0.09555|0.09555	0.0235|0.0235	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.06786	.|0.0;0.001;0.0;0.0;0.0	.|B;B;B;B;B	.|0.08055	.|0.001;0.003;0.001;0.001;0.001	T|T	0.17961|0.17961	-1.0352|-1.0352	6|10	.|0.27082	.|T	.|0.32	.|.	4.3988|4.3988	0.11376|0.11376	0.1033:0.3156:0.4194:0.1617|0.1033:0.3156:0.4194:0.1617	.|.	.|28;67;67;67;67	.|F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.|.;.;.;.;GOGB1_HUMAN	M|V	12|67	.|ENSP00000341848:I67V;ENSP00000377275:I67V;ENSP00000418231:I67V	.|ENSP00000341848:I67V	I|I	-|-	3|1	3|0	GOLGB1|GOLGB1	122931452|122931452	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.749000|0.749000	0.42624|0.42624	-1.649000|-1.649000	0.01993|0.01993	-1.627000|-1.627000	0.01550|0.01550	-0.361000|-0.361000	0.07541|0.07541	ATA|ATT		0.383	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		23	33	0	0	0	1	0	23	33					C	121448762	T	C	121448762	3	2	48	1	0	0	0	0	1	0	0	0	6573	1406	49	4	9660	4	GOLGB1	3	121448762	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	32204	121448762	76573668	1039	5507										
CASR	846	broad.mit.edu	37	chr3	122002980	122002980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggctcaacctgcagttcctgCtggttttcctctgcaccttc	8	15	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122002980C>T	ENST00000490131.1	+	7	2551	c.2179C>T	c.(2179-2181)Ctg>Ttg	p.L727L	CASR_ENST00000498619.1_Silent_p.L737L|CASR_ENST00000296154.5_Silent_p.L727L|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	727			L -> Q (in HYPOC1; the mutant receptor demonstrates a significant leftward shift in the extracellular calcium/ intracellular signaling dose-response curve versus that for the wild-type receptor). {ECO:0000269|PubMed:16608894}.		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)	GCAGTTCCTGCTGGTTTTCCT	0.567																																						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.(2209-2211)Ctg>Ttg		calcium-sensing receptor	Cinacalcet(DB01012)						55	50	52					3																	122002980		2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002980C>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.2179C>T	3.37:g.122002980C>T			Somatic				CASR_ENST00000490131.1_Silent_p.L727L|CASR_ENST00000296154.5_Silent_p.L727L	p.L737L	NM_001178065.1	NP_001171536.1	WXS	Illumina GAIIx	Phase_I	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2647	+			727					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.2209C>T	CCDS3010.1																																																																																				0.567	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		18	41	0	0	0	1	0	18	41					T	122002980	C	T	122002980	2	4	48	1	0	0	0	0	0	0	0	1	2684	796	28	3		3	CASR	3	122002980	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	554218	122002980	76019450	1040	5508										
FAM162A	26355	broad.mit.edu	37	chr3	122121631	122121631	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgttttaggttatgtgaaaGagatgtttcctcatctctaa	8	6	2	2	rs531678380		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122121631G>T	ENST00000477892.1	+	2	143	c.59G>T	c.(58-60)aGa>aTa	p.R20I	FAM162A_ENST00000232125.5_Missense_Mutation_p.R10I|FAM162A_ENST00000469967.1_Missense_Mutation_p.R20I	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	20					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						TTATGTGAAAGAGATGTTTCC	0.373																																						ENST00000477892.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(58-60)aGa>aTa		family with sequence similarity 162, member A							84	76	79					3																	122121631		1813	4076	5889	SO:0001583	missense	26355					integral to membrane		g.chr3:122121631G>T	AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"chromosome 3 open reading frame 28"	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.59G>T	3.37:g.122121631G>T	ENSP00000419088:p.Arg20Ile		Somatic				FAM162A_ENST00000232125.5_Missense_Mutation_p.R10I|FAM162A_ENST00000469967.1_Missense_Mutation_p.R20I	p.R20I	NM_014367.3	NP_055182.3	WXS	Illumina GAIIx	Phase_I	Q96A26	F162A_HUMAN			2	143	+			20					Q9NRN6|Q9UJX8	Missense_Mutation	SNP	ENST00000477892.1	37	c.59G>T	CCDS43139.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721036	0.68959	.	.	ENSG00000114023	ENST00000232125;ENST00000477892;ENST00000469967;ENST00000440333	T;T;T	0.39056	1.1;1.1;1.1	4.98	4.11	0.48088	.	0.569295	0.18600	N	0.136494	T	0.62502	0.2433	M	0.79805	2.47	0.46185	D	0.998918	D;D	0.69078	0.997;0.997	D;D	0.69824	0.93;0.966	T	0.65166	-0.6234	10	0.87932	D	0	.	9.1212	0.36788	0.0976:0.0:0.9024:0.0	.	20;20	E9PH05;Q96A26	.;F162A_HUMAN	I	10;20;20;20	ENSP00000232125:R10I;ENSP00000419088:R20I;ENSP00000419491:R20I	ENSP00000232125:R10I	R	+	2	0	FAM162A	123604321	1.000000	0.71417	0.988000	0.46212	0.938000	0.57974	3.010000	0.49559	1.335000	0.45486	0.650000	0.86243	AGA		0.373	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1	NM_014367		8	21	1	0	0.00307968	1	0.00320271	8	21					T	122121631	G	T	122121631	3	4	48	1	0	0	0	0	1	0	0	0	5479	942	33	2	65	2	FAM162A	3	122121631	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	118651	122121631	75900799	1041	5509										
FAM162A	26355	broad.mit.edu	37	chr3	122121665	122121665	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctctaaggcttaccagaagCtctgatttgaagagaataaa	8	7	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122121665C>T	ENST00000477892.1	+	2	177	c.93C>T	c.(91-93)agC>agT	p.S31S	FAM162A_ENST00000232125.5_Silent_p.S21S|FAM162A_ENST00000469967.1_Silent_p.S31S	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	31					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						TTACCAGAAGCTCTGATTTGA	0.358																																						ENST00000477892.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(91-93)agC>agT		family with sequence similarity 162, member A							81	76	77					3																	122121665		1829	4074	5903	SO:0001819	synonymous_variant	26355					integral to membrane		g.chr3:122121665C>T	AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"chromosome 3 open reading frame 28"	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.93C>T	3.37:g.122121665C>T			Somatic				FAM162A_ENST00000232125.5_Silent_p.S21S|FAM162A_ENST00000469967.1_Silent_p.S31S	p.S31S	NM_014367.3	NP_055182.3	WXS	Illumina GAIIx	Phase_I	Q96A26	F162A_HUMAN			2	177	+			31					Q9NRN6|Q9UJX8	Silent	SNP	ENST00000477892.1	37	c.93C>T	CCDS43139.1																																																																																				0.358	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1	NM_014367		15	35	0	0	0	1	0	15	35					T	122121665	C	T	122121665	2	4	48	1	0	0	0	0	0	0	0	1	5479	796	28	3		3	FAM162A	3	122121665	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	34	122121665	75900765	1042	5510										
PARP9	83666	broad.mit.edu	37	chr3	122255817	122255817	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccacatttttcaaactgtttCttttgatctagaagctcttg	5	9	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122255817C>A	ENST00000360356.2	-	9	2201	c.1974G>T	c.(1972-1974)aaG>aaT	p.K658N	PARP9_ENST00000477522.2_Missense_Mutation_p.K623N|PARP9_ENST00000471785.1_Missense_Mutation_p.K623N|PARP9_ENST00000492382.1_Missense_Mutation_p.K203N|PARP9_ENST00000462315.1_Missense_Mutation_p.K623N	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	658	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				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)		CAAACTGTTTCTTTTGATCTA	0.353																																						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.(1867-1869)aaG>aaT		poly (ADP-ribose) polymerase family, member 9							174	174	174					3																	122255817		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122255817C>A	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.1974G>T	3.37:g.122255817C>A	ENSP00000353512:p.Lys658Asn		Somatic				PARP9_ENST00000492382.1_Missense_Mutation_p.K203N|PARP9_ENST00000360356.2_Missense_Mutation_p.K658N|PARP9_ENST00000477522.2_Missense_Mutation_p.K623N|PARP9_ENST00000471785.1_Missense_Mutation_p.K623N	p.K623N	NM_001146106.1	NP_001139578.1	WXS	Illumina GAIIx	Phase_I	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	9	2162	-			658					A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.1869G>T	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214715	0.39102	.	.	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T;T	0.19250	3.15;2.79;3.01;3.01;2.16	5.11	4.24	0.50183	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.107273	0.41938	D	0.000788	T	0.32526	0.0832	L	0.55103	1.725	0.38621	D	0.951136	D;D;D;D	0.71674	0.98;0.998;0.996;0.994	P;P;P;P	0.56343	0.624;0.796;0.787;0.732	T	0.13845	-1.0494	10	0.46703	T	0.11	.	11.0479	0.47870	0.0:0.9137:0.0:0.0863	.	623;658;203;623	E9PFM7;Q8IXQ6;G5E9U8;Q8IXQ6-2	.;PARP9_HUMAN;.;.	N	658;203;623;623;581;623	ENSP00000353512:K658N;ENSP00000417664:K203N;ENSP00000419506:K623N;ENSP00000419001:K623N;ENSP00000418894:K623N	ENSP00000353512:K658N	K	-	3	2	PARP9	123738507	0.980000	0.34600	0.859000	0.33776	0.237000	0.25408	1.177000	0.31969	1.536000	0.49237	0.655000	0.94253	AAG		0.353	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		39	69	1	0	1.93745e-38	1	2.79126e-38	39	69					A	122255817	C	A	122255817	3	1	48	1	0	0	0	0	1	0	0	0	11475	912	32	2	655	2	PARP9	3	122255817	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	134152	122255817	75766613	1043	5511										
SEMA5B	54437	broad.mit.edu	37	chr3	122641234	122641234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catcaggaagaggcgctgcgCgtcctgcaggctgcgctccg	15	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122641234C>T	ENST00000357599.3	-	11	1719	c.1333G>A	c.(1333-1335)Gcg>Acg	p.A445T	SEMA5B_ENST00000195173.4_Missense_Mutation_p.A445T|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A499T	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	445	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGGCGCTGCGCGTCCTGCAGG	0.701																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(1333-1335)Gcg>Acg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							28	28	28					3																	122641234		2203	4299	6502	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122641234C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1333G>A	3.37:g.122641234C>T	ENSP00000350215:p.Ala445Thr		Somatic				SEMA5B_ENST00000357599.3_Missense_Mutation_p.A445T|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A499T	p.A445T			WXS	Illumina GAIIx	Phase_I	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	11	1636	-			445			Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.1333G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	35	5.560637	0.96527	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.28863	0.0716	M	0.77486	2.375	0.80722	D	1	P;D;D	0.54047	0.732;0.964;0.964	B;P;P	0.48921	0.366;0.595;0.595	T	0.02774	-1.1112	10	0.52906	T	0.07	.	18.0865	0.89458	0.0:1.0:0.0:0.0	.	387;445;445	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	T	445;445;387;499;445	ENSP00000350215:A445T;ENSP00000195173:A445T;ENSP00000389588:A499T;ENSP00000377208:A445T	ENSP00000195173:A445T	A	-	1	0	SEMA5B	124123924	1.000000	0.71417	0.283000	0.24790	0.976000	0.68499	7.600000	0.82769	2.759000	0.94783	0.591000	0.81541	GCG		0.701	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		8	12	0	0	0	1	0	8	12					T	122641234	C	T	122641234	3	4	48	1	0	0	0	0	1	0	0	0	14053	768	27	1	2174	1	SEMA5B	3	122641234	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	385417	122641234	75381196	1044	5512										
MYLK	4638	broad.mit.edu	37	chr3	123383094	123383094	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctccaccttcatgtgctcGctttcctggatctaggggcg	10	13	3	0	rs377231739		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:123383094G>A	ENST00000475616.1	-	20	3842	c.3843C>T	c.(3841-3843)agC>agT	p.S1281S	MYLK_ENST00000360304.3_Silent_p.S1281S|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000359169.1_Silent_p.S1281S|MYLK_ENST00000346322.5_Silent_p.S1212S|MYLK_ENST00000360772.3_Silent_p.S1281S|MYLK_ENST00000354792.5_Silent_p.S81S			Q15746	MYLK_HUMAN	myosin light chain kinase	1281	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.S1281S(1)		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)		TCATGTGCTCGCTTTCCTGGA	0.617																																						ENST00000360772.3																			1	Substitution - coding silent(1)	p.S1281S(1)	endometrium(1)	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.(3841-3843)agC>agT		myosin light chain kinase		G	,,,	2,4404	4.2+/-10.8	0,2,2201	115	107	110		3843,3636,3843,3636	-0.8	0.8	3		110	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,	1281/1915,1212/1846,1281/1864,1212/1795	123383094	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123383094G>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.3843C>T	3.37:g.123383094G>A			Somatic				MYLK_ENST00000360304.3_Silent_p.S1281S|MYLK_ENST00000475616.1_Silent_p.S1281S|MYLK_ENST00000354792.5_Silent_p.S81S|MYLK_ENST00000346322.5_Silent_p.S1212S|MYLK_ENST00000359169.1_Silent_p.S1281S	p.S1281S			WXS	Illumina GAIIx	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	24	4221	-		Lung NSC(201;0.0496)	1281			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.3843C>T	CCDS46896.1																																																																																				0.617	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		53	93	0	0	0	1	0	53	93					A	123383094	G	A	123383094	2	1	48	1	0	0	0	0	0	0	0	1	10065	1078	38	1		1	MYLK	3	123383094	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	741860	123383094	74639336	1045	5513										
KALRN	8997	broad.mit.edu	37	chr3	124141773	124141773	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caatgcagagcagactcataAgcggctagagcagtgcctcc	11	12	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:124141773A>C	ENST00000240874.3	+	15	2808	c.2651A>C	c.(2650-2652)aAg>aCg	p.K884T	KALRN_ENST00000460856.1_Missense_Mutation_p.K884T|KALRN_ENST00000360013.3_Missense_Mutation_p.K884T	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	884					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						CAGACTCATAAGCGGCTAGAG	0.502																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(2650-2652)aAg>aCg		kalirin, RhoGEF kinase							103	96	98					3																	124141773		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124141773A>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2651A>C	3.37:g.124141773A>C	ENSP00000240874:p.Lys884Thr		Somatic				KALRN_ENST00000240874.3_Missense_Mutation_p.K884T|KALRN_ENST00000460856.1_Missense_Mutation_p.K884T	p.K884T	NM_001024660.3	NP_001019831.2	WXS	Illumina GAIIx	Phase_I	O60229	KALRN_HUMAN			15	2778	+			884					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.2651A>C	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.16|11.16	1.556615|1.556615	0.27827|0.27827	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.34859|.	1.34;1.34;1.34|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.300709|.	0.31495|.	N|.	0.007556|.	T|T	0.48857|0.48857	0.1523|0.1523	N|N	0.16478|0.16478	0.41|0.41	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.11235|.	0.0;0.0;0.004;0.0|.	B;B;B;B|.	0.08055|.	0.002;0.0;0.003;0.003|.	T|T	0.44559|0.44559	-0.9320|-0.9320	10|5	0.15066|.	T|.	0.55|.	.|.	15.0843|15.0843	0.72138|0.72138	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	884;230;884;884|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	T|R	884|862	ENSP00000418611:K884T;ENSP00000240874:K884T;ENSP00000353109:K884T|.	ENSP00000240874:K884T|.	K|S	+|+	2|1	0|0	KALRN|KALRN	125624463|125624463	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	5.800000|5.800000	0.69108|0.69108	2.204000|2.204000	0.70986|0.70986	0.529000|0.529000	0.55759|0.55759	AAG|AGC		0.502	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		7	78	0	0	0	1	0	7	78					C	124141773	A	C	124141773	3	2	48	1	0	0	0	0	1	0	0	0	7984	72	3	4	2709	4	KALRN	3	124141773	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	758679	124141773	73880657	1046	5514										
MUC13	56667	broad.mit.edu	37	chr3	124642454	124642454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatgcagcttaacacataacGaattatctgcacagggatca	7	9	2	0	rs373312041		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:124642454G>A	ENST00000311075.3	-	3	592	c.554C>T	c.(553-555)tCg>tTg	p.S185L		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	186	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AACACATAACGAATTATCTGC	0.383																																						ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(553-555)tCg>tTg		mucin 13, cell surface associated							137	116	123					3																	124642454		2203	4300	6503	SO:0001583	missense	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124642454G>A	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"Mucins"	7511	protein-coding gene	gene with protein product		612181	"down-regulated in colon cancer 1", "mucin 13, epithelial transmembrane"	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.554C>T	3.37:g.124642454G>A	ENSP00000312235:p.Ser185Leu		Somatic					p.S185L	NM_033049.3	NP_149038.3	WXS	Illumina GAIIx	Phase_I	Q9H3R2	MUC13_HUMAN			3	592	-			185			EGF-like 1.		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37	c.554C>T		.	.	.	.	.	.	.	.	.	.	G	17.42	3.385513	0.61956	.	.	ENSG00000173702	ENST00000311075;ENST00000478191	T;D	0.95656	2.08;-3.77	4.7	4.7	0.59300	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.303544	0.23973	N	0.042744	D	0.94621	0.8266	L	0.27053	0.805	0.09310	N	0.999999	D	0.76494	0.999	P	0.59546	0.859	D	0.88823	0.3300	10	0.66056	D	0.02	-23.2687	13.441	0.61112	0.0:0.0:1.0:0.0	.	185	Q9H3R2	MUC13_HUMAN	L	185;55	ENSP00000312235:S185L;ENSP00000418660:S55L	ENSP00000312235:S185L	S	-	2	0	MUC13	126125144	0.940000	0.31905	0.106000	0.21319	0.002000	0.02628	3.609000	0.54117	2.894000	0.99253	0.591000	0.81541	TCG		0.383	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		18	43	0	0	0	1	0	18	43					A	124642454	G	A	124642454	3	1	48	1	0	0	0	0	1	0	0	0	9980	1059	37	1	1017	1	MUC13	3	124642454	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	500681	124642454	73379976	1047	5515										
HEG1	57493	broad.mit.edu	37	chr3	124720800	124720800	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagccaggtcaaatagcgtcAcattggaggccagggaaaag	13	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:124720800A>G	ENST00000311127.4	-	11	3480	c.3413T>C	c.(3412-3414)gTg>gCg	p.V1138A		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1138					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AAATAGCGTCACATTGGAGGC	0.502																																						ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(3412-3414)gTg>gCg		heart development protein with EGF-like domains 1							84	81	82					3																	124720800		2004	4181	6185	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124720800A>G	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.3413T>C	3.37:g.124720800A>G	ENSP00000311502:p.Val1138Ala		Somatic					p.V1138A	NM_020733.1	NP_065784.1	WXS	Illumina GAIIx	Phase_I	Q9ULI3	HEG1_HUMAN			11	3480	-			1138					Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.3413T>C	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.230695	0.79688	.	.	ENSG00000173706	ENST00000311127;ENST00000487661	D;T	0.90788	-2.73;0.48	5.65	5.65	0.86999	.	0.000000	0.34879	U	0.003609	D	0.90501	0.7024	L	0.34521	1.04	0.51012	D	0.999909	P	0.51653	0.947	P	0.56612	0.802	D	0.89826	0.3992	10	0.38643	T	0.18	.	14.2543	0.66040	1.0:0.0:0.0:0.0	.	1138	Q9ULI3	HEG1_HUMAN	A	1138;22	ENSP00000311502:V1138A;ENSP00000417648:V22A	ENSP00000311502:V1138A	V	-	2	0	HEG1	126203490	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.645000	0.54389	2.371000	0.80710	0.533000	0.62120	GTG		0.502	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		13	24	0	0	0	1	0	13	24					G	124720800	A	G	124720800	3	3	48	1	0	0	0	0	1	0	0	0	7053	159	6	4	760	4	HEG1	3	124720800	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	78346	124720800	73301630	1048	5516										
CCDC37	348807	broad.mit.edu	37	chr3	126137314	126137314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagcagaaaagaatgtggaGcctgagaacatgagtggcta	13	7	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:126137314G>A	ENST00000352312.1	+	6	531	c.432G>A	c.(430-432)gaG>gaA	p.E144E	CCDC37_ENST00000393425.1_Silent_p.E145E|CCDC37_ENST00000505024.1_Silent_p.E145E	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	144										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGAATGTGGAGCCTGAGAACA	0.612																																						ENST00000393425.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.(433-435)gaG>gaA		coiled-coil domain containing 37							79	78	79					3																	126137314		2203	4300	6503	SO:0001819	synonymous_variant	348807							g.chr3:126137314G>A	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.432G>A	3.37:g.126137314G>A			Somatic				CCDC37_ENST00000505024.1_Silent_p.E145E|CCDC37_ENST00000352312.1_Silent_p.E144E	p.E145E			WXS	Illumina GAIIx	Phase_I	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	6	534	+			144					D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	c.435G>A	CCDS3037.1																																																																																				0.612	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		28	61	0	0	0	1	0	28	61					A	126137314	G	A	126137314	2	1	48	1	0	0	0	0	0	0	0	1	2811	962	34	3		3	CCDC37	3	126137314	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1416514	126137314	71885116	1049	5517										
ZXDC	79364	broad.mit.edu	37	chr3	126180490	126180490	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcttccttcctgctgcccaActgctcctgggcgagaaggc	12	15	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:126180490A>G	ENST00000389709.3	-	6	2068	c.2015T>C	c.(2014-2016)gTt>gCt	p.V672A	ZXDC_ENST00000336332.5_Missense_Mutation_p.V672A	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	672	Required for transcriptional activation.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CTGCTGCCCAACTGCTCCTGG	0.642																																						ENST00000389709.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(2014-2016)gTt>gCt		ZXD family zinc finger C							52	56	55					3																	126180490		2109	4216	6325	SO:0001583	missense	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126180490A>G	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"Zinc fingers, C2H2-type"	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.2015T>C	3.37:g.126180490A>G	ENSP00000374359:p.Val672Ala		Somatic				ZXDC_ENST00000336332.5_Missense_Mutation_p.V672A	p.V672A	NM_025112.4	NP_079388.3	WXS	Illumina GAIIx	Phase_I	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	6	2068	-			672			Required for transcriptional activation.		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	c.2015T>C	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	A	5.488	0.275126	0.10403	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.08984	3.03;3.03	4.72	-2.49	0.06403	.	0.563434	0.17915	N	0.157712	T	0.06280	0.0162	L	0.48642	1.525	0.09310	N	1	B;B	0.16396	0.017;0.01	B;B	0.10450	0.005;0.003	T	0.26538	-1.0100	10	0.40728	T	0.16	-0.9104	4.8158	0.13365	0.4654:0.2845:0.2502:0.0	.	672;672	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	A	672	ENSP00000374359:V672A;ENSP00000337694:V672A	ENSP00000337694:V672A	V	-	2	0	ZXDC	127663180	0.003000	0.15002	0.000000	0.03702	0.025000	0.11179	1.393000	0.34497	-0.634000	0.05538	-0.326000	0.08463	GTT		0.642	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		32	60	0	0	0	1	0	32	60					G	126180490	A	G	126180490	3	3	48	1	0	0	0	0	1	0	0	0	18267	43	2	4	587	4	ZXDC	3	126180490	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	43176	126180490	71841940	1050	5518										
SEC61A1	29927	broad.mit.edu	37	chr3	127785899	127785899	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaacatccccatcatcctgCagtctgccctggtgtccaac	6	18	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:127785899C>T	ENST00000243253.3	+	9	1064	c.880C>T	c.(880-882)Cag>Tag	p.Q294*	SEC61A1_ENST00000424880.2_Nonsense_Mutation_p.Q174*|SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000464451.1_Nonsense_Mutation_p.Q300*|RUVBL1_ENST00000464873.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	294					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)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CATCATCCTGCAGTCTGCCCT	0.557																																						ENST00000243253.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						c.(880-882)Cag>Tag		Sec61 alpha 1 subunit (S. cerevisiae)							242	187	206					3																	127785899		2203	4300	6503	SO:0001587	stop_gained	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127785899C>T	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.880C>T	3.37:g.127785899C>T	ENSP00000243253:p.Gln294*		Somatic				RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000464451.1_Nonsense_Mutation_p.Q300*|SEC61A1_ENST00000424880.2_Nonsense_Mutation_p.Q174*	p.Q294*	NM_013336.3	NP_037468.1	WXS	Illumina GAIIx	Phase_I	P61619	S61A1_HUMAN			9	1064	+			294					P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Nonsense_Mutation	SNP	ENST00000243253.3	37	c.880C>T	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	C	37	6.207090	0.97376	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.7202	0.91689	0.0:1.0:0.0:0.0	.	.	.	.	X	300;294;174	.	ENSP00000243253:Q294X	Q	+	1	0	SEC61A1	129268589	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	7.818000	0.86416	2.411000	0.81874	0.563000	0.77884	CAG		0.557	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		18	94	0	0	0	1	0	18	94					T	127785899	C	T	127785899	4	4	48	1	0	0	0	0	0	1	0	0	14015	711	25	3	914	3	SEC61A1	3	127785899	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1605409	127785899	70236531	1051	5519										
KIAA1257	57501	broad.mit.edu	37	chr3	128696954	128696954	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggatgttcctggttcgactCttctctgacaatgttggtat	10	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:128696954C>A	ENST00000265068.5	-	5	909	c.742G>T	c.(742-744)Gag>Tag	p.E248*	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Nonsense_Mutation_p.E248*|KIAA1257_ENST00000515659.1_Nonsense_Mutation_p.E136*	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	248										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TGGTTCGACTCTTCTCTGACA	0.418																																						ENST00000265068.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(742-744)Gag>Tag		KIAA1257							181	176	177					3																	128696954		1938	4131	6069	SO:0001587	stop_gained	57501							g.chr3:128696954C>A	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.742G>T	3.37:g.128696954C>A	ENSP00000265068:p.Glu248*		Somatic				KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Nonsense_Mutation_p.E248*|KIAA1257_ENST00000515659.1_Nonsense_Mutation_p.E136*	p.E248*	NM_020741.2	NP_065792.1	WXS	Illumina GAIIx	Phase_I	Q9ULG3	K1257_HUMAN			5	909	-			248					Q8IXY7|Q8N5T4	Nonsense_Mutation	SNP	ENST00000265068.5	37	c.742G>T	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	C	36	5.717402	0.96839	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	3.78	-0.108	0.13588	.	0.796286	0.10943	N	0.617066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-0.359	6.159	0.20354	0.0:0.528:0.0:0.472	.	.	.	.	X	248;248;136	.	ENSP00000265068:E248X	E	-	1	0	KIAA1257	130179644	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.115000	0.15540	0.072000	0.16694	0.467000	0.42956	GAG		0.418	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		11	41	1	0	2.27111e-07	1	2.60515e-07	11	41					A	128696954	C	A	128696954	4	1	48	1	0	0	0	0	0	1	0	0	8227	922	32	2	503	2	KIAA1257	3	128696954	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	911055	128696954	69325476	1052	5520										
CCDC48	79825	broad.mit.edu	37	chr3	128757724	128757724	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgctgagcacgctggacgcTttcagggaccccacccacgg	12	15	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:128757724T>G	ENST00000480450.1	+	7	1641	c.1641T>G	c.(1639-1641)gcT>gcG	p.A547A	EFCC1_ENST00000436022.2_Silent_p.A110A			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	547							calcium ion binding (GO:0005509)										CGCTGGACGCTTTCAGGGACC	0.542																																						ENST00000436022.2																			0											c.(328-330)gcT>gcG		EF-hand and coiled-coil domain containing 1							81	86	84					3																	128757724		2203	4300	6503	SO:0001819	synonymous_variant	79825							g.chr3:128757724T>G	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"EF-hand domain containing"	25692	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 73", "coiled-coil domain containing 48"	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1641T>G	3.37:g.128757724T>G			Somatic				EFCC1_ENST00000480450.1_Silent_p.A547A	p.A110A	NM_024768.2	NP_079044.2	WXS	Illumina GAIIx	Phase_I					7	1641	+								A8MYE2	Silent	SNP	ENST00000480450.1	37	c.330T>G	CCDS3054.2																																																																																				0.542	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1	NM_024768		12	111	0	0	0	1	0	12	111					G	128757724	T	G	128757724	2	3	48	1	0	0	0	0	0	0	0	1	2821	1596	56	4		4	CCDC48	3	128757724	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	60770	128757724	69264706	1053	5521										
H1FX	8971	broad.mit.edu	37	chr3	129034193	129034193	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggccgccgtcttcttggcctTgccgcctttgtccttcttgg	11	15	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:129034193T>G	ENST00000333762.4	-	1	927	c.553A>C	c.(553-555)Aag>Cag	p.K185Q	H1FX-AS1_ENST00000383461.2_RNA|H1FX-AS1_ENST00000502789.2_RNA|H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000537780.1_RNA|H1FX-AS1_ENST00000433902.2_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	185					nucleosome assembly (GO:0006334)	nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			kidney(1)|ovary(1)|urinary_tract(2)	4						TTCTTGGCCTTGCCGCCTTTG	0.706																																						ENST00000333762.4																			0				kidney(1)|ovary(1)|urinary_tract(2)	4						c.(553-555)Aag>Cag		H1 histone family, member X							14	17	16					3																	129034193		2199	4297	6496	SO:0001583	missense	8971				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr3:129034193T>G	D64142	CCDS3057.1	3q21.3	2011-08-16			ENSG00000184897	ENSG00000184897		"Histones / Replication-independent"	4722	protein-coding gene	gene with protein product		602785				8964515, 9439656	Standard	NM_006026		Approved	MGC15959, MGC8350, H1X	uc003elx.3	Q92522	OTTHUMG00000159450	ENST00000333762.4:c.553A>C	3.37:g.129034193T>G	ENSP00000329662:p.Lys185Gln		Somatic					p.K185Q	NM_006026.3	NP_006017.1	WXS	Illumina GAIIx	Phase_I	Q92522	H1X_HUMAN			1	927	-			185						Missense_Mutation	SNP	ENST00000333762.4	37	c.553A>C	CCDS3057.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.038607	0.55003	.	.	ENSG00000184897	ENST00000333762	T	0.09350	2.99	4.44	4.44	0.53790	.	2.999750	0.03591	U	0.231858	T	0.22936	0.0554	L	0.29908	0.895	0.41313	D	0.987128	D	0.76494	0.999	D	0.66716	0.946	T	0.03587	-1.1022	10	0.21540	T	0.41	.	11.6357	0.51202	0.0:0.0:0.0:1.0	.	185	Q92522	H1X_HUMAN	Q	185	ENSP00000329662:K185Q	ENSP00000329662:K185Q	K	-	1	0	H1FX	130516883	1.000000	0.71417	0.996000	0.52242	0.580000	0.36256	3.654000	0.54453	1.629000	0.50426	0.402000	0.26972	AAG		0.706	H1FX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355455.2	NM_006026		11	26	0	0	0	1	0	11	26					G	129034193	T	G	129034193	3	3	48	1	0	0	0	0	1	0	0	0	6932	1821	63	4	92	4	H1FX	3	129034193	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	276469	129034193	68988237	1054	5522										
MBD4	8930	broad.mit.edu	37	chr3	129155479	129155479	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgagtctttggctgaacaAaatttgtttatgatgccaga	9	6	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:129155479A>T	ENST00000249910.1	-	3	1183	c.1008T>A	c.(1006-1008)ttT>ttA	p.F336L	MBD4_ENST00000429544.2_Missense_Mutation_p.F336L|MBD4_ENST00000503197.1_Missense_Mutation_p.F336L|MBD4_ENST00000507208.1_Missense_Mutation_p.F336L|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000393278.2_Intron	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	336					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TGGCTGAACAAAATTTGTTTA	0.338								Base excision repair (BER), DNA glycosylases																														ENST00000429544.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						c.(1006-1008)ttT>ttA	Base excision repair (BER), DNA glycosylases	methyl-CpG binding domain protein 4							92	100	98					3																	129155479		2202	4300	6502	SO:0001583	missense	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129155479A>T	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1008T>A	3.37:g.129155479A>T	ENSP00000249910:p.Phe336Leu		Somatic				MBD4_ENST00000503197.1_Missense_Mutation_p.F336L|MBD4_ENST00000249910.1_Missense_Mutation_p.F336L|MBD4_ENST00000507208.1_Missense_Mutation_p.F336L|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000393278.2_Intron	p.F336L	NM_001276270.1	NP_001263199.1	WXS	Illumina GAIIx	Phase_I	O95243	MBD4_HUMAN			3	1203	-			336					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	c.1008T>A	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	A	2.295	-0.361521	0.05103	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000507208	D;D;D;D	0.91124	-2.58;-2.59;-2.77;-2.79	5.65	-1.2	0.09554	.	1.902100	0.01995	N	0.045834	T	0.72708	0.3494	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.70850	-0.4760	10	0.02654	T	1	-0.0295	1.3733	0.02215	0.1333:0.2338:0.1358:0.4971	.	336;336;336;336	E9PEE4;O95243-2;O95243-3;O95243	.;.;.;MBD4_HUMAN	L	336	ENSP00000394080:F336L;ENSP00000249910:F336L;ENSP00000424873:F336L;ENSP00000422327:F336L	ENSP00000249910:F336L	F	-	3	2	MBD4	130638169	0.015000	0.18098	0.007000	0.13788	0.005000	0.04900	0.134000	0.15932	-0.136000	0.11475	-0.285000	0.09966	TTT		0.338	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		27	52	0	0	0	1	0	27	52					T	129155479	A	T	129155479	3	4	48	1	0	0	0	0	1	0	0	0	9355	11	1	4	758	4	MBD4	3	129155479	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	121286	129155479	68866951	1055	5523										
COL6A5	256076	broad.mit.edu	37	chr3	130189741	130189741	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaacaaatatcccaccgaaGatatgaaagccacatgtgtt	6	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:130189741G>T	ENST00000432398.2	+	39	7998	c.7504G>T	c.(7504-7506)Gat>Tat	p.D2502Y	COL6A5_ENST00000265379.6_Missense_Mutation_p.D2502Y	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2502	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TCCCACCGAAGATATGAAAGC	0.428																																						ENST00000265379.6																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(7504-7506)Gat>Tat		collagen, type VI, alpha 5							85	83	84					3																	130189741		1892	4126	6018	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130189741G>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.7504G>T	3.37:g.130189741G>T	ENSP00000390895:p.Asp2502Tyr		Somatic				COL6A5_ENST00000432398.2_Missense_Mutation_p.D2502Y	p.D2502Y			WXS	Illumina GAIIx	Phase_I	A8TX70	CO6A5_HUMAN			39	7998	+			2502			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.7504G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.583|6.583	0.475889|0.475889	0.12521|0.12521	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	D;D;T;T|.	0.90261|.	-2.56;-2.64;-1.09;-0.95|.	5.35|5.35	4.44|4.44	0.53790|0.53790	.|.	0.364292|.	0.23232|.	N|.	0.050460|.	T|T	0.53867|0.53867	0.1823|0.1823	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	P;P|.	0.47034|.	0.823;0.889|.	B;B|.	0.41510|.	0.359;0.359|.	T|T	0.45556|0.45556	-0.9253|-0.9253	10|5	0.72032|.	D|.	0.01|.	.|.	11.6742|11.6742	0.51419|0.51419	0.0:0.1791:0.8209:0.0|0.0:0.1791:0.8209:0.0	.|.	2502;2502|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	Y|I	2502;2502;445;337|753	ENSP00000390895:D2502Y;ENSP00000265379:D2502Y;ENSP00000362250:D445Y;ENSP00000424968:D337Y|.	ENSP00000265379:D2502Y|.	D|R	+|+	1|2	0|0	COL6A5|COL6A5	131672431|131672431	0.957000|0.957000	0.32711|0.32711	0.021000|0.021000	0.16686|0.16686	0.126000|0.126000	0.20510|0.20510	2.020000|2.020000	0.41010|0.41010	1.193000|1.193000	0.43086|0.43086	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.428	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		10	17	1	0	1.33987e-11	1	1.67053e-11	10	17					T	130189741	G	T	130189741	3	4	48	1	0	0	0	0	1	0	0	0	3704	942	33	2	7654	2	COL6A5	3	130189741	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1034262	130189741	67832689	1056	5524										
COL6A6	131873	broad.mit.edu	37	chr3	130279266	130279266	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccatatttctgtgaaccaaGattccggtaaggaaaaactg	8	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:130279266G>T	ENST00000358511.6	+	1	89	c.58G>T	c.(58-60)Gat>Tat	p.D20Y	COL6A6_ENST00000453409.2_Missense_Mutation_p.D20Y	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	20	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular 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						TGTGAACCAAGATTCCGGTAA	0.294																																						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.(58-60)Gat>Tat		collagen, type VI, alpha 6							107	96	100					3																	130279266		1796	4057	5853	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130279266G>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.58G>T	3.37:g.130279266G>T	ENSP00000351310:p.Asp20Tyr		Somatic				COL6A6_ENST00000453409.2_Missense_Mutation_p.D20Y	p.D20Y	NM_001102608.1	NP_001096078.1	WXS	Illumina GAIIx	Phase_I	A6NMZ7	CO6A6_HUMAN			1	89	+			20			Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.58G>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	6.378	0.437775	0.12104	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.77877	-1.13;-1.13	5.22	1.28	0.21552	.	0.915175	0.09252	N	0.827764	T	0.72415	0.3457	M	0.67953	2.075	0.27232	N	0.959388	P	0.37423	0.594	B	0.36845	0.234	T	0.62996	-0.6735	10	0.66056	D	0.02	.	4.3752	0.11267	0.3084:0.1808:0.5109:0.0	.	20	A6NMZ7	CO6A6_HUMAN	Y	20	ENSP00000351310:D20Y;ENSP00000399236:D20Y	ENSP00000351310:D20Y	D	+	1	0	COL6A6	131761956	1.000000	0.71417	0.856000	0.33681	0.019000	0.09904	0.992000	0.29667	0.014000	0.14944	-0.152000	0.13540	GAT		0.294	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		16	21	1	0	1.99824e-07	1	2.29918e-07	16	21					T	130279266	G	T	130279266	3	4	48	1	0	0	0	0	1	0	0	0	3705	942	33	2	60	2	COL6A6	3	130279266	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	89525	130279266	67743164	1057	5525										
ATP2C1	27032	broad.mit.edu	37	chr3	130698227	130698227	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggagtatcaataaaaatgAttactggagattcacaggag	10	5	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:130698227A>C	ENST00000510168.1	+	19	2255	c.1705A>C	c.(1705-1707)Att>Ctt	p.I569L	ATP2C1_ENST00000504948.1_Missense_Mutation_p.I553L|ATP2C1_ENST00000359644.3_Missense_Mutation_p.I569L|ATP2C1_ENST00000533801.2_Missense_Mutation_p.I564L|ATP2C1_ENST00000422190.2_Missense_Mutation_p.I569L|ATP2C1_ENST00000507488.2_Missense_Mutation_p.I553L|ATP2C1_ENST00000504381.1_Missense_Mutation_p.I514L|ATP2C1_ENST00000505330.1_Missense_Mutation_p.I553L|ATP2C1_ENST00000513801.1_Missense_Mutation_p.I553L|ATP2C1_ENST00000508532.1_Missense_Mutation_p.I569L|ATP2C1_ENST00000393221.4_Missense_Mutation_p.I603L|ATP2C1_ENST00000428331.2_Missense_Mutation_p.I569L|ATP2C1_ENST00000328560.8_Missense_Mutation_p.I569L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	569					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)	AATAAAAATGATTACTGGAGA	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.(1705-1707)Att>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)						107	104	105					3																	130698227		2203	4300	6503	SO:0001583	missense	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.chr3:130698227A>C	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.1705A>C	3.37:g.130698227A>C	ENSP00000427461:p.Ile569Leu		Somatic				ATP2C1_ENST00000428331.2_Missense_Mutation_p.I569L|ATP2C1_ENST00000504948.1_Missense_Mutation_p.I553L|ATP2C1_ENST00000505330.1_Missense_Mutation_p.I553L|ATP2C1_ENST00000422190.2_Missense_Mutation_p.I569L|ATP2C1_ENST00000508532.1_Missense_Mutation_p.I569L|ATP2C1_ENST00000507488.2_Missense_Mutation_p.I553L|ATP2C1_ENST00000533801.2_Missense_Mutation_p.I564L|ATP2C1_ENST00000393221.4_Missense_Mutation_p.I603L|ATP2C1_ENST00000504381.1_Missense_Mutation_p.I514L|ATP2C1_ENST00000359644.3_Missense_Mutation_p.I569L|ATP2C1_ENST00000513801.1_Missense_Mutation_p.I553L|ATP2C1_ENST00000328560.8_Missense_Mutation_p.I569L	p.I569L			WXS	Illumina GAIIx	Phase_I	P98194	AT2C1_HUMAN			19	2255	+			569					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.1705A>C	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.07|15.07	2.723801|2.723801	0.48728|0.48728	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421|ENST00000504612	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.95342|.	-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68|.	5.68|5.68	4.33|4.33	0.51752|0.51752	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);|.	0.103098|.	0.64402|.	D|.	0.000003|.	T|.	0.54695|.	0.1874|.	L|L	0.39085|0.39085	1.19|1.19	0.51233|0.51233	D|D	0.999915|0.999915	B;B;B;B;B;B;B|.	0.29115|.	0.043;0.053;0.107;0.017;0.233;0.004;0.006|.	B;B;B;B;B;B;B|.	0.40228|.	0.026;0.044;0.242;0.026;0.323;0.026;0.027|.	T|.	0.50906|.	-0.8772|.	10|.	0.62326|.	D|.	0.03|.	.|.	11.5512|11.5512	0.50721|0.50721	0.8753:0.0:0.1247:0.0|0.8753:0.0:0.1247:0.0	.|.	603;564;603;569;603;569;569|.	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194|.	.;.;.;.;.;.;AT2C1_HUMAN|.	L|C	553;514;553;603;564;569;569;553;553;569;569;569;569;568|522	ENSP00000423774:I553L;ENSP00000425320:I514L;ENSP00000421326:I553L;ENSP00000376914:I603L;ENSP00000432956:I564L;ENSP00000427461:I569L;ENSP00000424783:I569L;ENSP00000423330:I553L;ENSP00000422872:I553L;ENSP00000329664:I569L;ENSP00000395809:I569L;ENSP00000352665:I569L;ENSP00000402677:I569L|.	ENSP00000329664:I569L|.	I|X	+|+	1|3	0|0	ATP2C1|ATP2C1	132180917|132180917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.587000|1.587000	0.36622|0.36622	2.160000|2.160000	0.67779|0.67779	0.533000|0.533000	0.62120|0.62120	ATT|TGA		0.383	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		16	30	0	0	0	1	0	16	30					C	130698227	A	C	130698227	3	2	48	1	0	0	0	0	1	0	0	0	1143	333	12	4	1775	4	ATP2C1	3	130698227	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	418961	130698227	67324203	1058	5526										
ACPP	55	broad.mit.edu	37	chr3	132075553	132075553	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtactttgtggagatgtactAtcggaatgagacgcagcacg	13	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:132075553A>G	ENST00000336375.5	+	10	1082	c.992A>G	c.(991-993)tAt>tGt	p.Y331C	ACPP_ENST00000475741.1_Missense_Mutation_p.Y298C|ACPP_ENST00000351273.7_Missense_Mutation_p.Y331C	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	331					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GAGATGTACTATCGGAATGAG	0.532																																						ENST00000336375.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(991-993)tAt>tGt		acid phosphatase, prostate							140	128	132					3																	132075553		2203	4300	6503	SO:0001583	missense	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132075553A>G		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.992A>G	3.37:g.132075553A>G	ENSP00000337471:p.Tyr331Cys		Somatic				ACPP_ENST00000475741.1_Missense_Mutation_p.Y298C|ACPP_ENST00000351273.7_Missense_Mutation_p.Y331C	p.Y331C	NM_001099.4	NP_001090.2	WXS	Illumina GAIIx	Phase_I	P15309	PPAP_HUMAN			10	1082	+			331					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000336375.5	37	c.992A>G	CCDS3073.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.942848|3.942848	0.73672|0.73672	.|.	.|.	ENSG00000014257|ENSG00000014257	ENST00000507647|ENST00000336375;ENST00000475741;ENST00000351273	.|T;T;T	.|0.23147	.|1.92;1.92;1.92	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.64402	.|D	.|0.000011	T|T	0.61413|0.61413	0.2345|0.2345	H|H	0.94222|0.94222	3.51|3.51	0.54753|0.54753	D|D	0.999987|0.999987	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.997	T|T	0.72218|0.72218	-0.4357|-0.4357	5|10	.|0.87932	.|D	.|0	.|.	12.3122|12.3122	0.54935|0.54935	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|331;331;298	.|P15309;P15309-2;Q5FBY0	.|PPAP_HUMAN;.;.	V|C	16|331;298;331	.|ENSP00000337471:Y331C;ENSP00000417744:Y298C;ENSP00000323036:Y331C	.|ENSP00000337471:Y331C	I|Y	+|+	1|2	0|0	ACPP|ACPP	133558243|133558243	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.956000|0.956000	0.61745|0.61745	3.837000|3.837000	0.55820|0.55820	2.164000|2.164000	0.68074|0.68074	0.533000|0.533000	0.62120|0.62120	ATC|TAT		0.532	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099		53	98	0	0	0	1	0	53	98					G	132075553	A	G	132075553	3	3	48	1	0	0	0	0	1	0	0	0	167	449	16	4	1030	4	ACPP	3	132075553	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1377326	132075553	65946877	1059	5527										
DNAJC13	23317	broad.mit.edu	37	chr3	132179159	132179159	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcttctcttctctcgtcaaaGaagtttctggaaaacttact	6	10	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:132179159G>T	ENST00000260818.6	+	14	1763	c.1515G>T	c.(1513-1515)aaG>aaT	p.K505N	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	505					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						TCTCGTCAAAGAAGTTTCTGG	0.308																																						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.(1513-1515)aaG>aaT		DnaJ (Hsp40) homolog, subfamily C, member 13							59	63	62					3																	132179159		2203	4299	6502	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132179159G>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.1515G>T	3.37:g.132179159G>T	ENSP00000260818:p.Lys505Asn		Somatic				DNAJC13_ENST00000486798.1_3'UTR	p.K505N	NM_015268.3	NP_056083.3	WXS	Illumina GAIIx	Phase_I	O75165	DJC13_HUMAN			14	1763	+			505					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.1515G>T	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155497	0.57259	.	.	ENSG00000138246	ENST00000260818	T	0.13778	2.56	5.56	5.56	0.83823	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	L	0.48362	1.52	0.80722	D	1	B;D	0.60160	0.059;0.987	B;P	0.48598	0.029;0.583	T	0.00391	-1.1769	10	0.34782	T	0.22	.	19.5234	0.95195	0.0:0.0:1.0:0.0	.	505;505	A7E2Y5;O75165	.;DJC13_HUMAN	N	505	ENSP00000260818:K505N	ENSP00000260818:K505N	K	+	3	2	DNAJC13	133661849	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.547000	0.73892	2.602000	0.87976	0.563000	0.77884	AAG		0.308	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		14	18	1	0	1.49906e-05	1	1.64923e-05	14	18					T	132179159	G	T	132179159	3	4	48	1	0	0	0	0	1	0	0	0	4634	933	33	2	1565	2	DNAJC13	3	132179159	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	103606	132179159	65843271	1060	5528										
DNAJC13	23317	broad.mit.edu	37	chr3	132218600	132218600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttacaagaggcatttagtcGctgtgtggctgtcttgactc	12	8	1	2	rs367802425		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:132218600G>A	ENST00000260818.6	+	38	4612	c.4364G>A	c.(4363-4365)cGc>cAc	p.R1455H		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1455					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						GCATTTAGTCGCTGTGTGGCT	0.418																																						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.(4363-4365)cGc>cAc		DnaJ (Hsp40) homolog, subfamily C, member 13							240	249	246					3																	132218600		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132218600G>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.4364G>A	3.37:g.132218600G>A	ENSP00000260818:p.Arg1455His		Somatic					p.R1455H	NM_015268.3	NP_056083.3	WXS	Illumina GAIIx	Phase_I	O75165	DJC13_HUMAN			38	4612	+			1455					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.4364G>A	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264484	0.95399	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.24908	1.83	5.18	5.18	0.71444	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59088	0.2168	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66329	-0.5951	10	0.72032	D	0.01	.	19.0644	0.93104	0.0:0.0:1.0:0.0	.	1455	O75165	DJC13_HUMAN	H	1455;102	ENSP00000260818:R1455H	ENSP00000260818:R1455H	R	+	2	0	DNAJC13	133701290	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.200000	0.95010	2.570000	0.86706	0.555000	0.69702	CGC		0.418	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		44	121	0	0	0	1	0	44	121					A	132218600	G	A	132218600	3	1	48	1	0	0	0	0	1	0	0	0	4634	1087	38	1	4510	1	DNAJC13	3	132218600	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	39441	132218600	65803830	1061	5529										
NPHP3	27031	broad.mit.edu	37	chr3	132403475	132403475	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggagctaatgcacgtctccGaatatctaaagctctttcat	7	10	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:132403475G>A	ENST00000337331.5	-	24	3579	c.3493C>T	c.(3493-3495)Cgg>Tgg	p.R1165W	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1165					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.R1165W(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCACGTCTCCGAATATCTAAA	0.388																																						ENST00000337331.5																			1	Substitution - Missense(1)	p.R1165W(1)	large_intestine(1)	NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(3493-3495)Cgg>Tgg		nephronophthisis 3 (adolescent)							124	121	122					3																	132403475		2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132403475G>A	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.3493C>T	3.37:g.132403475G>A	ENSP00000338766:p.Arg1165Trp		Somatic				NPHP3_ENST00000326682.8_3'UTR	p.R1165W	NM_153240.4	NP_694972.3	WXS	Illumina GAIIx	Phase_I	Q7Z494	NPHP3_HUMAN			24	3579	-			1165					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.3493C>T	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878541	0.51801	.	.	ENSG00000113971	ENST00000393144;ENST00000393156;ENST00000512094;ENST00000337331	T;T	0.76448	-0.05;-1.02	5.66	4.71	0.59529	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.85940	0.5814	M	0.62209	1.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86094	0.1552	10	0.52906	T	0.07	-15.9301	15.7212	0.77710	0.0:0.0:0.8169:0.1831	.	1165;47	Q7Z494;Q7Z491	NPHP3_HUMAN;.	W	445;227;19;1165	ENSP00000427666:R19W;ENSP00000338766:R1165W	ENSP00000338766:R1165W	R	-	1	2	NPHP3	133886165	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	3.730000	0.55006	2.680000	0.91292	0.561000	0.74099	CGG		0.388	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		16	31	0	0	0	1	0	16	31					A	132403475	G	A	132403475	3	1	48	1	0	0	0	0	1	0	0	0	10589	1057	37	1	515	1	NPHP3	3	132403475	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	184875	132403475	65618955	1062	5530										
TMEM108	66000	broad.mit.edu	37	chr3	133099396	133099396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaaggacaagccaggccttCgcagagcagcccaggggggt	15	12	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:133099396C>T	ENST00000321871.6	+	4	1051	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.R281C|TMEM108_ENST00000515826.1_Missense_Mutation_p.R281C	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	281						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCCAGGCCTTCGCAGAGCAGC	0.647																																						ENST00000515826.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(841-843)Cgc>Tgc		transmembrane protein 108							27	28	28					3																	133099396		2203	4298	6501	SO:0001583	missense	66000					integral to membrane		g.chr3:133099396C>T	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"cancer/testis antigen 124"					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.841C>T	3.37:g.133099396C>T	ENSP00000324651:p.Arg281Cys		Somatic				TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.R281C|TMEM108_ENST00000321871.6_Missense_Mutation_p.R281C	p.R281C			WXS	Illumina GAIIx	Phase_I	Q6UXF1	TM108_HUMAN			3	964	+			281					D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.841C>T	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972881	0.34848	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.50001	0.81;0.81;0.76	4.24	-1.26	0.09376	.	1.512440	0.04113	N	0.314957	T	0.29190	0.0726	N	0.14661	0.345	0.09310	N	0.999999	P;P	0.52692	0.955;0.923	B;B	0.43916	0.436;0.436	T	0.13899	-1.0492	10	0.46703	T	0.11	0.5969	1.0086	0.01492	0.4694:0.2037:0.1895:0.1374	.	281;281	E9PB58;Q6UXF1	.;TM108_HUMAN	C	281	ENSP00000324651:R281C;ENSP00000376838:R281C;ENSP00000423338:R281C	ENSP00000324651:R281C	R	+	1	0	TMEM108	134582086	0.003000	0.15002	0.007000	0.13788	0.915000	0.54546	0.815000	0.27253	-0.079000	0.12707	0.561000	0.74099	CGC		0.647	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		23	29	0	0	0	1	0	23	29					T	133099396	C	T	133099396	3	4	48	1	0	0	0	0	1	0	0	0	16039	884	31	1	847	1	TMEM108	3	133099396	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	695921	133099396	64923034	1063	5531										
TF	7018	broad.mit.edu	37	chr3	133485143	133485143	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtattttgctatagcagtggTgaagaaatcagcttctgacc	10	7	2	3	rs142116896		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:133485143T>C	ENST00000402696.3	+	12	1837	c.1352T>C	c.(1351-1353)gTg>gCg	p.V451A	TF_ENST00000264998.3_Missense_Mutation_p.V324A	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	451	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)	ATAGCAGTGGTGAAGAAATCA	0.493																																						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.(1351-1353)gTg>gCg		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						215	209	211					3																	133485143		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.chr3:133485143T>C		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.1352T>C	3.37:g.133485143T>C	ENSP00000385834:p.Val451Ala		Somatic				TF_ENST00000264998.3_Missense_Mutation_p.V324A	p.V451A	NM_001063.3	NP_001054.1	WXS	Illumina GAIIx	Phase_I	P02787	TRFE_HUMAN			12	1837	+			451			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.1352T>C	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	T	11.33	1.607605	0.28623	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.13307	2.6;2.6	4.87	3.71	0.42584	.	0.153716	0.64402	N	0.000018	T	0.28034	0.0691	M	0.74647	2.275	0.46458	D	0.999051	P	0.37101	0.582	P	0.54140	0.743	T	0.02263	-1.1186	10	0.34782	T	0.22	-23.1378	6.2205	0.20679	0.0:0.2652:0.0:0.7348	.	451	P02787	TRFE_HUMAN	A	451;324	ENSP00000385834:V451A;ENSP00000264998:V324A	ENSP00000264998:V324A	V	+	2	0	TF	134967833	1.000000	0.71417	0.780000	0.31762	0.138000	0.21146	2.754000	0.47532	0.991000	0.38814	0.379000	0.24179	GTG		0.493	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		72	100	0	0	0	1	0	72	100					C	133485143	T	C	133485143	3	2	48	1	0	0	0	0	1	0	0	0	15800	1696	59	4	1398	4	TF	3	133485143	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	385747	133485143	64537287	1064	5532										
SLCO2A1	6578	broad.mit.edu	37	chr3	133661613	133661613	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagctgcagttcaaatagatCttcaagaggaaggggaggga	14	6	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:133661613C>T	ENST00000310926.4	-	11	1735		c.e11-1		SLCO2A1_ENST00000493729.1_Splice_Site	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1						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)	TCAAATAGATCTTCAAGAGGA	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.e11-1		solute carrier organic anion transporter family, member 2A1							76	80	79					3																	133661613		2203	4300	6503	SO:0001630	splice_region_variant	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133661613C>T		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1462-1G>A	3.37:g.133661613C>T			Somatic				SLCO2A1_ENST00000493729.1_Splice_Site		NM_005630.2	NP_005621.2	WXS	Illumina GAIIx	Phase_I	Q92959	SO2A1_HUMAN			11	1735	-								Q86V98|Q8IUN2	Splice_Site	SNP	ENST00000310926.4	37		CCDS3084.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855028	0.91355	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5387	0.95266	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLCO2A1	135144303	1.000000	0.71417	0.325000	0.25375	0.586000	0.36452	7.113000	0.77095	2.634000	0.89283	0.561000	0.74099	.		0.517	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630	Intron	25	46	0	0	0	1	0	25	46					T	133661613	C	T	133661613	5	4	48	1	0	0	0	0	0	0	1	0	14741	927	32	3	486	3	SLCO2A1	3	133661613	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	176470	133661613	64360817	1065	5533										
SLCO2A1	6578	broad.mit.edu	37	chr3	133666229	133666229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgtagagagaaaacaaagCgcttcatgaggattcctcca	9	9	1	3	rs201539847	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:133666229C>T	ENST00000310926.4	-	9	1439	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.R313H	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	389					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)	GAAAACAAAGCGCTTCATGAG	0.512													C|||	25	0.00499201	0	0	5008	,	,		18374	0		0	False		,,,				2504	0.0256					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.(1165-1167)cGc>cAc		solute carrier organic anion transporter family, member 2A1							119	108	111					3																	133666229		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.chr3:133666229C>T		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1166G>A	3.37:g.133666229C>T	ENSP00000311291:p.Arg389His		Somatic				SLCO2A1_ENST00000493729.1_Missense_Mutation_p.R313H	p.R389H	NM_005630.2	NP_005621.2	WXS	Illumina GAIIx	Phase_I	Q92959	SO2A1_HUMAN			9	1439	-			389					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.1166G>A	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390561	0.62066	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.66638	-0.22;-0.22	5.72	5.72	0.89469	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.058231	0.64402	D	0.000004	D	0.85225	0.5648	M	0.87758	2.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.998	D	0.87000	0.2116	10	0.87932	D	0	.	19.8737	0.96861	0.0:1.0:0.0:0.0	.	208;313;389	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	H	389;313	ENSP00000311291:R389H;ENSP00000418893:R313H	ENSP00000311291:R389H	R	-	2	0	SLCO2A1	135148919	0.999000	0.42202	0.965000	0.40720	0.694000	0.40290	4.659000	0.61504	2.687000	0.91594	0.655000	0.94253	CGC		0.512	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		16	44	0	0	0	1	0	16	44					T	133666229	C	T	133666229	3	4	48	1	0	0	0	0	1	0	0	0	14741	768	27	1	789	1	SLCO2A1	3	133666229	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4616	133666229	64356201	1066	5534										
EPHB1	2047	broad.mit.edu	37	chr3	134880997	134880997	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacggcaagttcagtggcaaGatgtgcttccagactctgac	11	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:134880997G>A	ENST00000398015.3	+	7	1930	c.1560G>A	c.(1558-1560)aaG>aaA	p.K520K	EPHB1_ENST00000493838.1_Silent_p.K81K	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	520	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						TCAGTGGCAAGATGTGCTTCC	0.567																																						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.(1558-1560)aaG>aaA		EPH receptor B1							92	98	96					3																	134880997		2170	4279	6449	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134880997G>A	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.1560G>A	3.37:g.134880997G>A			Somatic				EPHB1_ENST00000493838.1_Silent_p.K81K	p.K520K	NM_004441.4	NP_004432.1	WXS	Illumina GAIIx	Phase_I	P54762	EPHB1_HUMAN			7	1930	+			520			Fibronectin type-III 2.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1560G>A	CCDS46921.1																																																																																				0.567	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		24	51	0	0	0	1	0	24	51					A	134880997	G	A	134880997	2	1	48	1	0	0	0	0	0	0	0	1	5176	933	33	3		3	EPHB1	3	134880997	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1214768	134880997	63141433	1067	5535										
PPP2R3A	5523	broad.mit.edu	37	chr3	135722020	135722020	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgagcctaaatctaaagtCtcttcacccatagaaaaagt	5	10	3	2	rs144470120		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:135722020C>A	ENST00000264977.3	+	2	2297	c.1680C>A	c.(1678-1680)gtC>gtA	p.V560V	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	560					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						AATCTAAAGTCTCTTCACCCA	0.408																																						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.(1678-1680)gtC>gtA		protein phosphatase 2, regulatory subunit B'', alpha							58	58	58					3																	135722020		2203	4299	6502	SO:0001819	synonymous_variant	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135722020C>A	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.1680C>A	3.37:g.135722020C>A			Somatic				PPP2R3A_ENST00000490467.1_Intron	p.V560V	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	WXS	Illumina GAIIx	Phase_I	Q06190	P2R3A_HUMAN			2	2297	+			560					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Silent	SNP	ENST00000264977.3	37	c.1680C>A	CCDS3087.1																																																																																				0.408	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		21	40	1	0	1.96292e-10	1	2.40731e-10	21	40					A	135722020	C	A	135722020	2	1	48	1	0	0	0	0	0	0	0	1	12400	900	32	2		2	PPP2R3A	3	135722020	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	841023	135722020	62300410	1068	5536										
STAG1	10274	broad.mit.edu	37	chr3	136096557	136096557	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgctggcaaacagccaaaAaggatttcaccgttttcctc	7	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:136096557A>C	ENST00000383202.2	-	23	2571	c.2315T>G	c.(2314-2316)tTt>tGt	p.F772C	STAG1_ENST00000434713.2_Missense_Mutation_p.F546C|STAG1_ENST00000236698.5_Missense_Mutation_p.F772C|STAG1_ENST00000536929.1_Missense_Mutation_p.F356C	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	772					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						AACAGCCAAAAAGGATTTCAC	0.368																																						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.(2314-2316)tTt>tGt		stromal antigen 1							85	82	83					3																	136096557		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.chr3:136096557A>C	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2315T>G	3.37:g.136096557A>C	ENSP00000372689:p.Phe772Cys		Somatic				STAG1_ENST00000236698.5_Missense_Mutation_p.F772C|STAG1_ENST00000434713.2_Missense_Mutation_p.F546C|STAG1_ENST00000536929.1_Missense_Mutation_p.F356C	p.F772C	NM_005862.2	NP_005853.2	WXS	Illumina GAIIx	Phase_I	Q8WVM7	STAG1_HUMAN			23	2571	-			772					O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	c.2315T>G	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525058	0.85600	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	6.01	6.01	0.97437	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;0.982	D;P	0.87578	0.998;0.82	T	0.67496	-0.5656	10	0.62326	D	0.03	.	16.5722	0.84615	1.0:0.0:0.0:0.0	.	772;772	Q6P275;Q8WVM7	.;STAG1_HUMAN	C	772;772;546;356	ENSP00000372689:F772C;ENSP00000236698:F772C;ENSP00000404396:F546C;ENSP00000445787:F356C	ENSP00000236698:F772C	F	-	2	0	STAG1	137579247	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.894000	0.92506	2.313000	0.78055	0.456000	0.33151	TTT		0.368	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		18	23	0	0	0	1	0	18	23					C	136096557	A	C	136096557	3	2	48	1	0	0	0	0	1	0	0	0	15257	14	1	4	1509	4	STAG1	3	136096557	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	374537	136096557	61925873	1069	5537										
STAG1	10274	broad.mit.edu	37	chr3	136221539	136221539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaatcattttatttctctcGgcttcatattgtctctgggt	6	10	4	0	rs113504457	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:136221539G>A	ENST00000383202.2	-	8	1015	c.759C>T	c.(757-759)gcC>gcT	p.A253A	STAG1_ENST00000434713.2_Silent_p.A27A|STAG1_ENST00000236698.5_Silent_p.A253A	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	253					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)	p.A253A(1)		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						TATTTCTCTCGGCTTCATATT	0.383																																						ENST00000383202.2																			1	Substitution - coding silent(1)	p.A253A(1)	lung(1)	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.(757-759)gcC>gcT		stromal antigen 1		G		1,4405	2.1+/-5.4	0,1,2202	143	135	138		759	-7.6	1	3	dbSNP_132	138	0,8600		0,0,4300	no	coding-synonymous	STAG1	NM_005862.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		253/1259	136221539	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136221539G>A	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.759C>T	3.37:g.136221539G>A			Somatic				STAG1_ENST00000236698.5_Silent_p.A253A|STAG1_ENST00000434713.2_Silent_p.A27A	p.A253A	NM_005862.2	NP_005853.2	WXS	Illumina GAIIx	Phase_I	Q8WVM7	STAG1_HUMAN			8	1015	-			253					O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	c.759C>T	CCDS3090.1																																																																																				0.383	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		6	50	0	0	0	1	0	6	50					A	136221539	G	A	136221539	2	1	48	1	0	0	0	0	0	0	0	1	15257	1103	39	1		1	STAG1	3	136221539	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	124982	136221539	61800891	1070	5538										
TMEM22	80723	broad.mit.edu	37	chr3	136574280	136574280	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatctcattgctatatgtgtCtgttctactgcagcattctt	6	9	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:136574280C>A	ENST00000446465.2	+	2	1606	c.978C>A	c.(976-978)gtC>gtA	p.V326V	RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.V326V|RP11-85F14.5_ENST00000474250.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		CTATATGTGTCTGTTCTACTG	0.403																																						ENST00000446465.2																			0											c.(976-978)gtC>gtA		solute carrier family 35, member G2							273	267	269					3																	136574280		2203	4300	6503	SO:0001819	synonymous_variant	80723					Golgi apparatus|integral to membrane		g.chr3:136574280C>A	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"Solute carriers"	28480	protein-coding gene	gene with protein product			"transmembrane protein 22"	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.978C>A	3.37:g.136574280C>A			Somatic				RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.V326V	p.V326V	NM_025246.2	NP_079522.2	WXS	Illumina GAIIx	Phase_I	Q8TBE7	TMM22_HUMAN			2	1606	+			326			DUF6 2.			Silent	SNP	ENST00000446465.2	37	c.978C>A	CCDS3091.1																																																																																				0.403	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		16	196	1	0	4.14922e-12	1	5.21015e-12	16	196					A	136574280	C	A	136574280	2	1	48	1	0	0	0	0	0	0	0	1	16158	900	32	2		2	TMEM22	3	136574280	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	352741	136574280	61448150	1071	5539										
A4GNT	51146	broad.mit.edu	37	chr3	137843320	137843320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatcccacacttcatagtagCgcctccactctcgataggag	7	14	2	0	rs570351376		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:137843320C>T	ENST00000236709.3	-	3	1010	c.809G>A	c.(808-810)cGc>cAc	p.R270H		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	270					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)	p.R270H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TTCATAGTAGCGCCTCCACTC	0.498																																						ENST00000236709.3																			1	Substitution - Missense(1)	p.R270H(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						c.(808-810)cGc>cAc		alpha-1,4-N-acetylglucosaminyltransferase							92	89	90					3																	137843320		2203	4300	6503	SO:0001583	missense	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137843320C>T	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.809G>A	3.37:g.137843320C>T	ENSP00000236709:p.Arg270His		Somatic					p.R270H	NM_016161.2	NP_057245.1	WXS	Illumina GAIIx	Phase_I	Q9UNA3	A4GCT_HUMAN			3	1010	-			270					Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	c.809G>A	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605401	0.66445	.	.	ENSG00000118017	ENST00000236709	D	0.82711	-1.64	5.39	2.31	0.28768	Alpha 1,4-glycosyltransferase domain (1);	0.403521	0.22739	N	0.056237	D	0.88179	0.6367	M	0.81239	2.535	0.18873	N	0.999985	D	0.89917	1.0	D	0.68621	0.959	T	0.77043	-0.2734	10	0.45353	T	0.12	-7.9379	6.5038	0.22184	0.2362:0.6206:0.0:0.1432	.	270	Q9UNA3	A4GCT_HUMAN	H	270	ENSP00000236709:R270H	ENSP00000236709:R270H	R	-	2	0	A4GNT	139326010	0.408000	0.25360	0.998000	0.56505	0.978000	0.69477	0.171000	0.16685	1.253000	0.44018	0.563000	0.77884	CGC		0.498	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		25	38	0	0	0	1	0	25	38					T	137843320	C	T	137843320	3	4	48	1	0	0	0	0	1	0	0	0	7	768	27	1	217	1	A4GNT	3	137843320	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1269040	137843320	60179110	1072	5540										
DBR1	51163	broad.mit.edu	37	chr3	137881390	137881390	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attcaatttttccaatacttCtttcataccttcttctgttg	2	10	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:137881390C>A	ENST00000260803.4	-	8	1129	c.976G>T	c.(976-978)Gaa>Taa	p.E326*	DBR1_ENST00000505015.2_Nonsense_Mutation_p.E92*	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	326					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TCCAATACTTCTTTCATACCT	0.333																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(976-978)Gaa>Taa		debranching RNA lariats 1							86	95	92					3																	137881390		2202	4300	6502	SO:0001587	stop_gained	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137881390C>A	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"debranching enzyme (S. Cerevisiae) homolog 1", "debranching enzyme homolog 1 (S. cerevisiae)"			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.976G>T	3.37:g.137881390C>A	ENSP00000260803:p.Glu326*		Somatic				DBR1_ENST00000505015.2_Nonsense_Mutation_p.E92*	p.E326*	NM_016216.3	NP_057300.2	WXS	Illumina GAIIx	Phase_I	Q9UK59	DBR1_HUMAN			8	1129	-			326					Q96GH0|Q9NXQ6	Nonsense_Mutation	SNP	ENST00000260803.4	37	c.976G>T	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734997	0.89482	.	.	ENSG00000138231	ENST00000260803;ENST00000505015	.	.	.	5.86	4.96	0.65561	.	0.148067	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-7.3864	11.9794	0.53111	0.0:0.9129:0.0:0.0871	.	.	.	.	X	326;92	.	ENSP00000260803:E326X	E	-	1	0	DBR1	139364080	0.997000	0.39634	0.961000	0.40146	0.394000	0.30568	3.166000	0.50785	1.415000	0.47037	0.563000	0.77884	GAA		0.333	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			21	46	1	0	1.87028e-06	1	2.10206e-06	21	46					A	137881390	C	A	137881390	4	1	48	1	0	0	0	0	0	1	0	0	4259	922	32	2	662	2	DBR1	3	137881390	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	38070	137881390	60141040	1073	5541										
TXNDC6	347736	broad.mit.edu	37	chr3	138025310	138025310	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgatggccaaggtacaggtcCtctctgatgaaactaagcca	10	10	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:138025310C>A	ENST00000333911.3	-	7	500	c.473G>T	c.(472-474)aGg>aTg	p.R158M	NME9_ENST00000383180.2_Missense_Mutation_p.R97M|NME9_ENST00000317876.4_Missense_Mutation_p.R97M|NME9_ENST00000484930.1_Missense_Mutation_p.R95M|NME9_ENST00000341790.5_Missense_Mutation_p.R95M|NME9_ENST00000536478.1_Missense_Mutation_p.R97M			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	158	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)										GGTACAGGTCCTCTCTGATGA	0.458																																						ENST00000383180.2																			0											c.(289-291)aGg>aTg		NME/NM23 family member 9							158	138	145					3																	138025310		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.chr3:138025310C>A	AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"thioredoxin domain containing 6", "NME gene family member 9", "NME family member 9"	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.473G>T	3.37:g.138025310C>A	ENSP00000335444:p.Arg158Met		Somatic				NME9_ENST00000341790.5_Missense_Mutation_p.R95M|NME9_ENST00000317876.4_Missense_Mutation_p.R97M|NME9_ENST00000333911.3_Missense_Mutation_p.R158M|NME9_ENST00000536478.1_Missense_Mutation_p.R97M|NME9_ENST00000484930.1_Missense_Mutation_p.R95M	p.R97M	NM_178130.2	NP_835231.1	WXS	Illumina GAIIx	Phase_I	Q86XW9	TXND6_HUMAN			8	527	-			158			Thioredoxin.		Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	ENST00000333911.3	37	c.290G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.67|12.67	2.008364|2.008364	0.35415|0.35415	.|.	.|.	ENSG00000181322|ENSG00000181322	ENST00000474690|ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478;ENST00000333911;ENST00000475751	T|T;T;T;T;T;T;T	0.48522|0.48836	0.81|0.81;0.81;0.8;0.8;0.81;0.82;0.9	4.95|4.95	2.56|2.56	0.30785|0.30785	.|.	.|0.104769	.|0.64402	.|D	.|0.000007	T|T	0.44993|0.44993	0.1320|0.1320	L|L	0.32530|0.32530	0.975|0.975	0.30596|0.30596	N|N	0.761035|0.761035	.|D;P;P	.|0.53885	.|0.963;0.874;0.706	.|P;B;P	.|0.53809	.|0.735;0.243;0.504	T|T	0.49072|0.49072	-0.8977|-0.8977	7|10	0.17369|0.87932	T|D	0.5|0	-23.9113|-23.9113	7.8496|7.8496	0.29446|0.29446	0.0:0.1933:0.0:0.8067|0.0:0.1933:0.0:0.8067	.|.	.|95;158;97	.|Q86XW9-3;Q86XW9;Q86XW9-2	.|.;TXND6_HUMAN;.	D|M	88|97;97;95;95;97;158;158	ENSP00000420435:E88D|ENSP00000372667:R97M;ENSP00000321929:R97M;ENSP00000419882:R95M;ENSP00000341084:R95M;ENSP00000440143:R97M;ENSP00000335444:R158M;ENSP00000419147:R158M	ENSP00000420435:E88D|ENSP00000321929:R97M	E|R	-|-	3|2	2|0	TXNDC6|TXNDC6	139508000|139508000	1.000000|1.000000	0.71417|0.71417	0.336000|0.336000	0.25522|0.25522	0.095000|0.095000	0.18619|0.18619	1.792000|1.792000	0.38754|0.38754	0.842000|0.842000	0.35045|0.35045	-0.469000|-0.469000	0.05056|0.05056	GAG|AGG		0.458	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130		13	40	1	0	0.00136819	1	0.00143372	13	40					A	138025310	C	A	138025310	3	1	48	1	0	0	0	0	1	0	0	0	16815	681	24	5	521	5	TXNDC6	3	138025310	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	143920	138025310	59997120	1074	5542										
CLSTN2	64084	broad.mit.edu	37	chr3	140123599	140123599	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagatgtgccttttgccatcGacagaaatggtgagtgacct	11	9	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:140123599G>A	ENST00000458420.3	+	4	818	c.628G>A	c.(628-630)Gac>Aac	p.D210N	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	210	Cadherin 2. {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						TTTTGCCATCGACAGAAATGG	0.527										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.(628-630)Gac>Aac		calsyntenin 2							89	80	83					3																	140123599		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140123599G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.628G>A	3.37:g.140123599G>A	ENSP00000402460:p.Asp210Asn	HNSCC(16;0.037)	Somatic					p.D210N	NM_022131.2	NP_071414.2	WXS	Illumina GAIIx	Phase_I	Q9H4D0	CSTN2_HUMAN			4	818	+			210			Cadherin 2.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.628G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040911	0.93685	.	.	ENSG00000158258	ENST00000458420	T	0.52295	0.67	5.66	5.66	0.87406	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66228	0.2768	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61554	-0.7039	10	0.33141	T	0.24	-0.794	17.2492	0.87037	0.0:0.0:1.0:0.0	.	210	Q9H4D0	CSTN2_HUMAN	N	210	ENSP00000402460:D210N	ENSP00000402460:D210N	D	+	1	0	CLSTN2	141606289	1.000000	0.71417	0.984000	0.44739	0.765000	0.43378	9.731000	0.98807	2.665000	0.90641	0.563000	0.77884	GAC		0.527	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		17	73	0	0	0	1	0	17	73					A	140123599	G	A	140123599	3	1	48	1	0	0	0	0	1	0	0	0	3564	1058	37	1	642	1	CLSTN2	3	140123599	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2098289	140123599	57898831	1075	5543										
CLSTN2	64084	broad.mit.edu	37	chr3	140281660	140281660	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctcttggcacaggtgtgggCtccatgagccgctatgagca	13	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:140281660C>A	ENST00000458420.3	+	14	2410	c.2220C>A	c.(2218-2220)ggC>ggA	p.G740G		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	740					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						CAGGTGTGGGCTCCATGAGCC	0.567										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.(2218-2220)ggC>ggA		calsyntenin 2							51	50	51					3																	140281660		2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140281660C>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2220C>A	3.37:g.140281660C>A		HNSCC(16;0.037)	Somatic					p.G740G	NM_022131.2	NP_071414.2	WXS	Illumina GAIIx	Phase_I	Q9H4D0	CSTN2_HUMAN			14	2410	+			740					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.2220C>A	CCDS3112.1																																																																																				0.567	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		20	45	1	0	3.51602e-12	1	4.42195e-12	20	45					A	140281660	C	A	140281660	2	1	48	1	0	0	0	0	0	0	0	1	3564	784	28	5		5	CLSTN2	3	140281660	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	158061	140281660	57740770	1076	5544										
ZBTB38	253461	broad.mit.edu	37	chr3	141162802	141162802	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcattttctgtcttgaaacTttcatgacctactatatact	4	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:141162802T>G	ENST00000514251.1	+	4	1851	c.1572T>G	c.(1570-1572)acT>acG	p.T524T	ZBTB38_ENST00000321464.5_Silent_p.T525T|ZBTB38_ENST00000441582.2_Silent_p.T524T					zinc finger and BTB domain containing 38											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						GTCTTGAAACTTTCATGACCT	0.383																																						ENST00000514251.1																			0				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.(1570-1572)acT>acG		zinc finger and BTB domain containing 38							79	74	76					3																	141162802		1876	4108	5984	SO:0001819	synonymous_variant	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141162802T>G	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.1572T>G	3.37:g.141162802T>G			Somatic				ZBTB38_ENST00000441582.2_Silent_p.T524T|ZBTB38_ENST00000321464.5_Silent_p.T525T	p.T524T			WXS	Illumina GAIIx	Phase_I	Q8NAP3	ZBT38_HUMAN			4	1851	+			524						Silent	SNP	ENST00000514251.1	37	c.1572T>G	CCDS43157.1																																																																																				0.383	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			25	38	0	0	0	1	0	25	38					G	141162802	T	G	141162802	2	3	48	1	0	0	0	0	0	0	0	1	17554	1596	56	4		4	ZBTB38	3	141162802	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	881142	141162802	56859628	1077	5545										
ZBTB38	253461	broad.mit.edu	37	chr3	141163404	141163404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acacagcagccagttttcatCggtgatcatgcacagcaatg	9	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:141163404C>T	ENST00000514251.1	+	4	2453	c.2174C>T	c.(2173-2175)tCg>tTg	p.S725L	ZBTB38_ENST00000321464.5_Missense_Mutation_p.S726L|ZBTB38_ENST00000441582.2_Missense_Mutation_p.S725L					zinc finger and BTB domain containing 38											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						CAGTTTTCATCGGTGATCATG	0.502																																						ENST00000514251.1																			0				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.(2173-2175)tCg>tTg		zinc finger and BTB domain containing 38							72	75	74					3																	141163404		2068	4206	6274	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.chr3:141163404C>T	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.2174C>T	3.37:g.141163404C>T	ENSP00000426387:p.Ser725Leu		Somatic				ZBTB38_ENST00000441582.2_Missense_Mutation_p.S725L|ZBTB38_ENST00000321464.5_Missense_Mutation_p.S726L	p.S725L			WXS	Illumina GAIIx	Phase_I	Q8NAP3	ZBT38_HUMAN			4	2453	+			725						Missense_Mutation	SNP	ENST00000514251.1	37	c.2174C>T	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	C	35	5.476049	0.96291	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.30714	2.6;1.53;1.53;1.52	5.55	5.55	0.83447	.	0.175829	0.39274	N	0.001410	T	0.55210	0.1906	M	0.61703	1.905	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.49753	-0.8906	9	.	.	.	-15.1512	19.505	0.95111	0.0:1.0:0.0:0.0	.	726;725	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	L	725;725;725;726	ENSP00000424254:S725L;ENSP00000426387:S725L;ENSP00000406955:S725L;ENSP00000372635:S726L	.	S	+	2	0	ZBTB38	142646094	1.000000	0.71417	0.909000	0.35828	0.978000	0.69477	7.395000	0.79876	2.603000	0.88011	0.650000	0.86243	TCG		0.502	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			20	61	0	0	0	1	0	20	61					T	141163404	C	T	141163404	3	4	48	1	0	0	0	0	1	0	0	0	17554	893	31	1	2176	1	ZBTB38	3	141163404	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	602	141163404	56859026	1078	5546										
ATP1B3	483	broad.mit.edu	37	chr3	141644523	141644523	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttgggacgagttatgttcAaaatcacagcacgtgcatag	10	7	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:141644523A>C	ENST00000286371.3	+	7	1008	c.820A>C	c.(820-822)Aaa>Caa	p.K274Q	ATP1B3_ENST00000539728.1_3'UTR|ATP1B3_ENST00000484727.1_3'UTR|ATP1B3_ENST00000462082.1_Missense_Mutation_p.K84Q	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	274	immunoglobulin-like. {ECO:0000250}.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	caveola (GO:0005901)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)			cervix(1)|endometrium(1)|lung(2)	4						AGTTATGTTCAAAATCACAGC	0.403																																						ENST00000286371.3																			0				cervix(1)|endometrium(1)|lung(2)	4						c.(820-822)Aaa>Caa		ATPase, Na+/K+ transporting, beta 3 polypeptide							198	172	181					3																	141644523		2203	4300	6503	SO:0001583	missense	483				ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	g.chr3:141644523A>C	BC011835	CCDS3121.1	3q23	2012-10-22			ENSG00000069849	ENSG00000069849		"CD molecules", "ATPases / P-type"	806	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-3", "sodium pump subunit beta-3", "sodium-potassium ATPase subunit beta 3 (non-catalytic)"	601867				8798450, 9457675	Standard	NM_001679		Approved	FLJ29027, CD298	uc003eug.1	P54709	OTTHUMG00000159081	ENST00000286371.3:c.820A>C	3.37:g.141644523A>C	ENSP00000286371:p.Lys274Gln		Somatic				ATP1B3_ENST00000539728.1_3'UTR|ATP1B3_ENST00000484727.1_3'UTR|ATP1B3_ENST00000462082.1_Missense_Mutation_p.K84Q	p.K274Q	NM_001679.2	NP_001670.1	WXS	Illumina GAIIx	Phase_I	P54709	AT1B3_HUMAN			7	1008	+			274					B7Z1N7	Missense_Mutation	SNP	ENST00000286371.3	37	c.820A>C	CCDS3121.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894076	0.52121	.	.	ENSG00000069849	ENST00000286371;ENST00000462082	T;T	0.36157	1.27;1.27	5.96	5.96	0.96718	.	0.084306	0.85682	D	0.000000	T	0.53850	0.1822	M	0.72576	2.205	0.80722	D	1	D;P	0.53745	0.962;0.898	P;P	0.55615	0.78;0.544	T	0.52253	-0.8600	10	0.39692	T	0.17	-16.529	16.4484	0.83959	1.0:0.0:0.0:0.0	.	260;274	D3DNF9;P54709	.;AT1B3_HUMAN	Q	274;84	ENSP00000286371:K274Q;ENSP00000418353:K84Q	ENSP00000286371:K274Q	K	+	1	0	ATP1B3	143127213	1.000000	0.71417	0.845000	0.33349	0.096000	0.18686	6.101000	0.71479	2.285000	0.76669	0.533000	0.62120	AAA		0.403	ATP1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353218.1	NM_001679		49	110	0	0	0	1	0	49	110					C	141644523	A	C	141644523	3	2	48	1	0	0	0	0	1	0	0	0	1134	131	5	4	846	4	ATP1B3	3	141644523	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	481119	141644523	56377907	1079	5547										
ATR	545	broad.mit.edu	37	chr3	142178199	142178199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttggtagcatacactggcGaagttcttttcctgtcatat	8	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142178199G>A	ENST00000350721.4	-	43	7340	c.7219C>T	c.(7219-7221)Cgc>Tgc	p.R2407C	ATR_ENST00000383101.3_Missense_Mutation_p.R2343C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2407	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATACACTGGCGAAGTTCTTTT	0.383								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.(7219-7221)Cgc>Tgc	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							61	59	60					3																	142178199		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142178199G>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7219C>T	3.37:g.142178199G>A	ENSP00000343741:p.Arg2407Cys		Somatic				ATR_ENST00000383101.3_Missense_Mutation_p.R2343C	p.R2407C	NM_001184.3	NP_001175.2	WXS	Illumina GAIIx	Phase_I	Q13535	ATR_HUMAN			43	7340	-			2407			PI3K/PI4K.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.7219C>T	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.26|18.26	3.583950|3.583950	0.65992|0.65992	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	T;T|.	0.76316|.	-1.01;-1.01|.	4.58|4.58	4.58|4.58	0.56647|0.56647	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75620|0.75620	0.3874|0.3874	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.66351|.	0.943|.	T|T	0.76838|0.76838	-0.2811|-0.2811	10|5	0.72032|.	D|.	0.01|.	-2.5085|-2.5085	17.7085|17.7085	0.88315|0.88315	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2407|.	Q13535|.	ATR_HUMAN|.	C|L	2407;2343|253	ENSP00000343741:R2407C;ENSP00000372581:R2343C|.	ENSP00000343741:R2407C|.	R|S	-|-	1|2	0|0	ATR|ATR	143660889|143660889	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.777000|4.777000	0.62361|0.62361	2.265000|2.265000	0.75225|0.75225	0.491000|0.491000	0.48974|0.48974	CGC|TCG		0.383	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		16	28	0	0	0	1	0	16	28					A	142178199	G	A	142178199	3	1	48	1	0	0	0	0	1	0	0	0	1204	1058	37	1	735	1	ATR	3	142178199	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	533676	142178199	55844231	1080	5548										
ATR	545	broad.mit.edu	37	chr3	142278191	142278191	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctaacaaacttctacagctcTtaagcacttttgtgtaaaaa	4	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142278191T>G	ENST00000350721.4	-	7	1755	c.1634A>C	c.(1633-1635)aAg>aCg	p.K545T	ATR_ENST00000383101.3_Missense_Mutation_p.K481T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	545					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						TCTACAGCTCTTAAGCACTTT	0.373								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.(1633-1635)aAg>aCg	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							105	102	103					3																	142278191		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142278191T>G	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.1634A>C	3.37:g.142278191T>G	ENSP00000343741:p.Lys545Thr		Somatic				ATR_ENST00000383101.3_Missense_Mutation_p.K481T	p.K545T	NM_001184.3	NP_001175.2	WXS	Illumina GAIIx	Phase_I	Q13535	ATR_HUMAN			7	1755	-			545					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.1634A>C	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.707816	0.48412	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.04862	3.54;3.77	6.07	3.59	0.41128	Armadillo-type fold (1);	0.169217	0.50627	N	0.000116	T	0.05410	0.0143	L	0.29908	0.895	0.30823	N	0.737516	B	0.17852	0.024	B	0.15052	0.012	T	0.09100	-1.0690	10	0.87932	D	0	-3.4053	7.6949	0.28590	0.0:0.0682:0.2633:0.6685	.	545	Q13535	ATR_HUMAN	T	545;481;162	ENSP00000343741:K545T;ENSP00000372581:K481T	ENSP00000343741:K545T	K	-	2	0	ATR	143760881	0.907000	0.30839	0.967000	0.41034	0.984000	0.73092	1.046000	0.30354	0.475000	0.27415	0.533000	0.62120	AAG		0.373	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		13	28	0	0	0	1	0	13	28					G	142278191	T	G	142278191	3	3	48	1	0	0	0	0	1	0	0	0	1204	1609	56	4	6464	4	ATR	3	142278191	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	99992	142278191	55744239	1081	5549										
ATR	545	broad.mit.edu	37	chr3	142281126	142281126	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaagagctttacaaatatttCtcacatagaccttcctgact	4	10	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142281126C>A	ENST00000350721.4	-	4	1239	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I	ATR_ENST00000383101.3_Missense_Mutation_p.R373I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	373					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						ACAAATATTTCTCACATAGAC	0.358								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.(1117-1119)aGa>aTa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							70	71	71					3																	142281126		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142281126C>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1118G>T	3.37:g.142281126C>A	ENSP00000343741:p.Arg373Ile		Somatic				ATR_ENST00000383101.3_Missense_Mutation_p.R373I	p.R373I	NM_001184.3	NP_001175.2	WXS	Illumina GAIIx	Phase_I	Q13535	ATR_HUMAN			4	1239	-			373					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.1118G>T	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996354	0.35226	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.65732	-0.17;-0.17	5.67	1.84	0.25277	Armadillo-type fold (1);	0.956568	0.08790	N	0.893384	T	0.43942	0.1270	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.30475	-0.9977	10	0.40728	T	0.16	-0.9348	8.2024	0.31432	0.0:0.4655:0.339:0.1955	.	373	Q13535	ATR_HUMAN	I	373;373;54	ENSP00000343741:R373I;ENSP00000372581:R373I	ENSP00000343741:R373I	R	-	2	0	ATR	143763816	0.000000	0.05858	0.913000	0.36048	0.943000	0.58893	0.002000	0.13061	0.056000	0.16144	-1.273000	0.01405	AGA		0.358	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		21	46	1	0	5.26018e-13	1	6.70247e-13	21	46					A	142281126	C	A	142281126	3	1	48	1	0	0	0	0	1	0	0	0	1204	913	32	2	6992	2	ATR	3	142281126	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2935	142281126	55741304	1082	5550										
ATR	545	broad.mit.edu	37	chr3	142281164	142281164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acttgtaaagcagattcataCccagctggcacaaatttaag	7	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142281164C>T	ENST00000350721.4	-	4	1201	c.1080G>A	c.(1078-1080)ggG>ggA	p.G360G	ATR_ENST00000383101.3_Silent_p.G360G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	360					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						CAGATTCATACCCAGCTGGCA	0.398								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.(1078-1080)ggG>ggA	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							67	67	67					3																	142281164		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.chr3:142281164C>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.1080G>A	3.37:g.142281164C>T			Somatic				ATR_ENST00000383101.3_Silent_p.G360G	p.G360G	NM_001184.3	NP_001175.2	WXS	Illumina GAIIx	Phase_I	Q13535	ATR_HUMAN			4	1201	-			360					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.1080G>A	CCDS3124.1																																																																																				0.398	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		22	44	0	0	0	1	0	22	44					T	142281164	C	T	142281164	2	4	48	1	0	0	0	0	0	0	0	1	1204	494	18	3		3	ATR	3	142281164	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	38	142281164	55741266	1083	5551										
PLS1	5357	broad.mit.edu	37	chr3	142395077	142395077	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtaagcatcttatacccaTgaatcccaatgatgatagtc	6	10	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142395077T>C	ENST00000337777.3	+	5	656	c.443T>C	c.(442-444)aTg>aCg	p.M148T	RN7SKP25_ENST00000362449.1_RNA|PLS1_ENST00000457734.2_Missense_Mutation_p.M148T|PLS1_ENST00000497002.1_Missense_Mutation_p.M148T	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	148	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CTTATACCCATGAATCCCAAT	0.413																																						ENST00000337777.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.(442-444)aTg>aCg		plastin 1							189	172	178					3																	142395077		2203	4300	6503	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142395077T>C	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.443T>C	3.37:g.142395077T>C	ENSP00000336831:p.Met148Thr		Somatic				PLS1_ENST00000457734.2_Missense_Mutation_p.M148T|PLS1_ENST00000497002.1_Missense_Mutation_p.M148T	p.M148T	NM_002670.2	NP_002661.2	WXS	Illumina GAIIx	Phase_I	Q14651	PLSI_HUMAN			5	656	+			148			Actin-binding 1.|CH 1.		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.443T>C	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.588296	0.66105	.	.	ENSG00000120756	ENST00000457734;ENST00000476044;ENST00000337777;ENST00000497002	D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64	5.94	5.94	0.96194	Calponin homology domain (5);	0.076380	0.85682	D	0.000000	D	0.93245	0.7848	L	0.50333	1.59	0.58432	D	0.999991	B	0.20459	0.045	B	0.28849	0.095	D	0.90648	0.4580	10	0.87932	D	0	-20.0173	16.3908	0.83537	0.0:0.0:0.0:1.0	.	148	Q14651	PLSI_HUMAN	T	148;69;148;148	ENSP00000387890:M148T;ENSP00000417481:M69T;ENSP00000336831:M148T;ENSP00000418700:M148T	ENSP00000336831:M148T	M	+	2	0	PLS1	143877767	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	6.249000	0.72427	2.269000	0.75478	0.455000	0.32223	ATG		0.413	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		34	79	0	0	0	1	0	34	79					C	142395077	T	C	142395077	3	2	48	1	0	0	0	0	1	0	0	0	12116	1464	51	4	457	4	PLS1	3	142395077	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	113913	142395077	55627353	1084	5552										
TRPC1	7220	broad.mit.edu	37	chr3	142503722	142503722	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaatctcagtttggcagaatCattcacacaccttttatgaa	5	9	3	2	rs367550915		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142503722C>A	ENST00000476941.1	+	7	1623	c.1137C>A	c.(1135-1137)atC>atA	p.I379I	TRPC1_ENST00000273482.6_Silent_p.I345I	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	379					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTGGCAGAATCATTCACACAC	0.358																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(1033-1035)atC>atA		transient receptor potential cation channel, subfamily C, member 1							146	136	139					3																	142503722		2203	4300	6503	SO:0001819	synonymous_variant	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142503722C>A	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1137C>A	3.37:g.142503722C>A			Somatic				TRPC1_ENST00000476941.1_Silent_p.I379I	p.I345I	NM_003304.4	NP_003295.1	WXS	Illumina GAIIx	Phase_I	P48995	TRPC1_HUMAN			6	1426	+			379					Q14CE4	Silent	SNP	ENST00000476941.1	37	c.1035C>A	CCDS58856.1																																																																																				0.358	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		4	27	1	0	0.150653	1	0.151842	4	27					A	142503722	C	A	142503722	2	1	48	1	0	0	0	0	0	0	0	1	16593	816	29	2		2	TRPC1	3	142503722	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	108645	142503722	55518708	1085	5553										
PCOLCE2	26577	broad.mit.edu	37	chr3	142548671	142548671	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgaataagaagttcatttCtctcagacacaattggccta	6	9	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142548671C>A	ENST00000295992.3	-	6	1034	c.728G>T	c.(727-729)aGa>aTa	p.R243I	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	243	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						AAGTTCATTTCTCTCAGACAC	0.303																																						ENST00000295992.3																			0				NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(727-729)aGa>aTa		procollagen C-endopeptidase enhancer 2							86	89	88					3																	142548671		2203	4300	6503	SO:0001583	missense	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142548671C>A	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.728G>T	3.37:g.142548671C>A	ENSP00000295992:p.Arg243Ile		Somatic				PCOLCE2_ENST00000485766.1_Intron	p.R243I	NM_013363.3	NP_037495.1	WXS	Illumina GAIIx	Phase_I	Q9UKZ9	PCOC2_HUMAN			6	1034	-			243			CUB 2.		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	c.728G>T	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305153	0.40795	.	.	ENSG00000163710	ENST00000295992	T	0.28666	1.6	5.31	-2.9	0.05648	CUB (5);	0.460473	0.25857	N	0.027849	T	0.25158	0.0611	L	0.35542	1.07	0.58432	D	0.999999	B	0.31705	0.336	B	0.39027	0.288	T	0.05451	-1.0884	10	0.56958	D	0.05	-0.6522	13.107	0.59253	0.0:0.4248:0.0:0.5752	.	243	Q9UKZ9	PCOC2_HUMAN	I	243	ENSP00000295992:R243I	ENSP00000295992:R243I	R	-	2	0	PCOLCE2	144031361	0.148000	0.22702	0.751000	0.31187	0.831000	0.47069	-0.261000	0.08694	-0.674000	0.05253	-0.218000	0.12543	AGA		0.303	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		29	37	1	0	1.2476e-16	1	1.66396e-16	29	37					A	142548671	C	A	142548671	3	1	48	1	0	0	0	0	1	0	0	0	11604	913	32	2	535	2	PCOLCE2	3	142548671	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	44949	142548671	55473759	1086	5554										
SLC9A9	285195	broad.mit.edu	37	chr3	143082376	143082376	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccgagcactctctgctttCgtcatgtttttatccaagtt	7	11	2	0	rs141051651	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:143082376C>T	ENST00000316549.6	-	14	1762	c.1554G>A	c.(1552-1554)acG>acA	p.T518T		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	518					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						TCTCTGCTTTCGTCATGTTTT	0.368													C|||	2	0.000399361	0.0015	0	5008	,	,		16811	0		0	False		,,,				2504	0					ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1552-1554)acG>acA		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							138	132	134					3																	143082376		2203	4300	6503	SO:0001819	synonymous_variant	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143082376C>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.1554G>A	3.37:g.143082376C>T			Somatic					p.T518T	NM_173653.3	NP_775924.1	WXS	Illumina GAIIx	Phase_I	Q8IVB4	SL9A9_HUMAN			14	1762	-			518					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	c.1554G>A	CCDS33872.1																																																																																				0.368	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		20	42	0	0	0	1	0	20	42					T	143082376	C	T	143082376	2	4	48	1	0	0	0	0	0	0	0	1	14736	871	31	1		1	SLC9A9	3	143082376	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	533705	143082376	54940054	1087	5555										
CPA3	1359	broad.mit.edu	37	chr3	148583119	148583119	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggctcatcctgcctgtgggtTtgattgctaccactcttgca	10	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:148583119T>G	ENST00000296046.3	+	1	77	c.25T>G	c.(25-27)Ttg>Gtg	p.L9V	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	9					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GCCTGTGGGTTTGATTGCTAC	0.468																																						ENST00000296046.3																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(25-27)Ttg>Gtg		carboxypeptidase A3 (mast cell)							241	201	215					3																	148583119		2203	4300	6503	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148583119T>G		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"mast cell carboxypeptidase A", "tissue carboxypeptidase A"	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.25T>G	3.37:g.148583119T>G	ENSP00000296046:p.Leu9Val		Somatic				RP11-680B3.2_ENST00000488190.1_RNA	p.L9V	NM_001870.2	NP_001861.2	WXS	Illumina GAIIx	Phase_I	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		1	77	+			9					Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.25T>G	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	T	10.47	1.358085	0.24598	.	.	ENSG00000163751	ENST00000296046	T	0.10860	2.83	5.89	-2.33	0.06724	.	0.443923	0.22724	N	0.056418	T	0.08088	0.0202	L	0.60845	1.875	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.44544	-0.9321	10	0.11794	T	0.64	.	6.6457	0.22934	0.0:0.3942:0.1385:0.4673	.	9	P15088	CBPA3_HUMAN	V	9	ENSP00000296046:L9V	ENSP00000296046:L9V	L	+	1	2	CPA3	150065809	0.020000	0.18652	0.000000	0.03702	0.043000	0.13939	-0.057000	0.11768	-0.647000	0.05444	-0.379000	0.06801	TTG		0.468	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		15	54	0	0	0	1	0	15	54					G	148583119	T	G	148583119	3	3	48	1	0	0	0	0	1	0	0	0	3793	1838	64	4	27	4	CPA3	3	148583119	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	5500743	148583119	49439311	1088	5556										
HLTF	6596	broad.mit.edu	37	chr3	148756968	148756968	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaattgattcaactcttttCttttgggccatggaaccatc	7	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:148756968C>A	ENST00000310053.5	-	23	2857	c.2664G>T	c.(2662-2664)aaG>aaT	p.K888N	HLTF_ENST00000494055.1_Missense_Mutation_p.K888N|HLTF_ENST00000465259.1_Missense_Mutation_p.K887N|HLTF_ENST00000392912.2_Missense_Mutation_p.K888N	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	888	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			CAACTCTTTTCTTTTGGGCCA	0.373																																						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.(2662-2664)aaG>aaT		helicase-like transcription factor							66	64	64					3																	148756968		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.chr3:148756968C>A	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.2664G>T	3.37:g.148756968C>A	ENSP00000308944:p.Lys888Asn		Somatic				HLTF_ENST00000494055.1_Missense_Mutation_p.K888N|HLTF_ENST00000392912.2_Missense_Mutation_p.K888N|HLTF_ENST00000465259.1_Missense_Mutation_p.K887N	p.K888N	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)		23	2857	-			888			Helicase C-terminal.		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.2664G>T	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004572	0.74932	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	5.98	4.21	0.49690	Helicase, C-terminal (3);	.	.	.	.	T	0.78830	0.4345	L	0.43554	1.36	0.45477	D	0.998444	D;D;D	0.89917	1.0;1.0;0.957	D;D;P	0.91635	0.995;0.999;0.818	T	0.76162	-0.3060	9	0.41790	T	0.15	-18.5878	8.63	0.33913	0.0:0.7125:0.0:0.2875	.	888;888;888	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	N	887;888;888;888;356	ENSP00000420745:K887N;ENSP00000308944:K888N;ENSP00000376644:K888N;ENSP00000420429:K888N;ENSP00000420106:K356N	ENSP00000308944:K888N	K	-	3	2	HLTF	150239658	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.816000	0.38992	0.878000	0.35920	0.650000	0.86243	AAG		0.373	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			7	17	1	0	0.0381472	1	0.0387537	7	17					A	148756968	C	A	148756968	3	1	48	1	0	0	0	0	1	0	0	0	7224	912	32	2	377	2	HLTF	3	148756968	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	173849	148756968	49265462	1089	5557										
HLTF	6596	broad.mit.edu	37	chr3	148768120	148768120	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggaccataataaacataaaAattcaagtgtacatctgatt	5	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:148768120A>C	ENST00000310053.5	-	15	1709	c.1516T>G	c.(1516-1518)Ttt>Gtt	p.F506V	HLTF_ENST00000392912.2_Missense_Mutation_p.F506V|HLTF_ENST00000465259.1_Missense_Mutation_p.F505V|HLTF_ENST00000494055.1_Missense_Mutation_p.F506V	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	506	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)			TAAACATAAAAATTCAAGTGT	0.303																																						ENST00000310053.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(1516-1518)Ttt>Gtt		helicase-like transcription factor							68	70	69					3																	148768120		2201	4292	6493	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148768120A>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.1516T>G	3.37:g.148768120A>C	ENSP00000308944:p.Phe506Val		Somatic				HLTF_ENST00000494055.1_Missense_Mutation_p.F506V|HLTF_ENST00000392912.2_Missense_Mutation_p.F506V|HLTF_ENST00000465259.1_Missense_Mutation_p.F505V	p.F506V	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)		15	1709	-			506			Helicase ATP-binding.		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.1516T>G	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	A	3.894	-0.023370	0.07634	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.73	4.54	0.55810	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	T	0.65428	0.2690	N	0.00670	-1.27	0.36034	D	0.839596	B;B;B	0.13145	0.004;0.007;0.007	B;B;B	0.13407	0.006;0.009;0.009	T	0.63528	-0.6617	9	0.02654	T	1	-0.007	4.358	0.11188	0.6961:0.0:0.1575:0.1464	.	506;506;506	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	V	505;506;506;506	ENSP00000420745:F505V;ENSP00000308944:F506V;ENSP00000376644:F506V;ENSP00000420429:F506V	ENSP00000308944:F506V	F	-	1	0	HLTF	150250810	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.866000	0.27954	0.948000	0.37687	0.528000	0.53228	TTT		0.303	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			16	32	0	0	0	1	0	16	32					C	148768120	A	C	148768120	3	2	48	1	0	0	0	0	1	0	0	0	7224	14	1	4	1557	4	HLTF	3	148768120	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	11152	148768120	49254310	1090	5558										
PFN2	5217	broad.mit.edu	37	chr3	149686293	149686293	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagtcaaaccgttggtaaaGaaaccttcccggtcttttcc	8	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:149686293G>T	ENST00000239940.7	-	2	429	c.177C>A	c.(175-177)ttC>ttA	p.F59L	PFN2_ENST00000497148.1_Missense_Mutation_p.F10L|PFN2_ENST00000498307.1_Missense_Mutation_p.F10L|PFN2_ENST00000490975.1_Missense_Mutation_p.F59L|PFN2_ENST00000494827.1_Missense_Mutation_p.F10L|PFN2_ENST00000475518.1_Missense_Mutation_p.F10L|PFN2_ENST00000423691.2_Missense_Mutation_p.F59L|PFN2_ENST00000481767.1_Missense_Mutation_p.F10L|AC117395.1_ENST00000593416.1_5'Flank|PFN2_ENST00000461868.1_Missense_Mutation_p.F59L|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000481275.1_Missense_Mutation_p.F10L|PFN2_ENST00000489155.1_Missense_Mutation_p.F10L|PFN2_ENST00000452853.2_Missense_Mutation_p.F59L			P35080	PROF2_HUMAN	profilin 2	59					actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGTTGGTAAAGAAACCTTCCC	0.418																																						ENST00000239940.7																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						c.(175-177)ttC>ttA		profilin 2							156	169	165					3																	149686293		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.chr3:149686293G>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.177C>A	3.37:g.149686293G>T	ENSP00000239940:p.Phe59Leu		Somatic				PFN2_ENST00000423691.2_Missense_Mutation_p.F59L|PFN2_ENST00000498307.1_Missense_Mutation_p.F10L|PFN2_ENST00000497148.1_Missense_Mutation_p.F10L|PFN2_ENST00000494827.1_Missense_Mutation_p.F10L|PFN2_ENST00000490975.1_Missense_Mutation_p.F59L|PFN2_ENST00000489155.1_Missense_Mutation_p.F10L|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000481767.1_Missense_Mutation_p.F10L|PFN2_ENST00000481275.1_Missense_Mutation_p.F10L|PFN2_ENST00000475518.1_Missense_Mutation_p.F10L|PFN2_ENST00000461868.1_Missense_Mutation_p.F59L|PFN2_ENST00000452853.2_Missense_Mutation_p.F59L	p.F59L			WXS	Illumina GAIIx	Phase_I	P35080	PROF2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	429	-			59					B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	Missense_Mutation	SNP	ENST00000239940.7	37	c.177C>A	CCDS3148.1	.	.	.	.	.	.	.	.	.	.	.	18.08	3.544953	0.65198	.	.	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	0.84944	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.92	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	N	0.17922	0.545	0.80722	D	1	P;P;B;B	0.47484	0.703;0.896;0.067;0.04	B;P;B;B	0.45946	0.173;0.498;0.055;0.03	T	0.75419	-0.3324	10	0.05833	T	0.94	.	19.2173	0.93783	0.0:0.0:1.0:0.0	.	59;253;59;10	G5E9Q6;D3DNI2;P35080;C9J0J7	.;.;PROF2_HUMAN;.	L	59;59;59;10;10;59;10;10;10;10;10;59	ENSP00000410464:F59L;ENSP00000239940:F59L;ENSP00000408283:F59L;ENSP00000420417:F10L;ENSP00000418523:F10L;ENSP00000417351:F59L;ENSP00000417817:F10L;ENSP00000418142:F10L;ENSP00000418216:F10L;ENSP00000420202:F10L;ENSP00000420504:F10L;ENSP00000420244:F59L	ENSP00000239940:F59L	F	-	3	2	PFN2	151168983	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.419000	0.73345	2.532000	0.85374	0.655000	0.94253	TTC		0.418	PFN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356873.2	NM_002628		10	159	1	0	1.58986e-06	1	1.78832e-06	10	159					T	149686293	G	T	149686293	3	4	48	1	0	0	0	0	1	0	0	0	11777	933	33	2	355	2	PFN2	3	149686293	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	918173	149686293	48336137	1091	5559										
CLRN1	7401	broad.mit.edu	37	chr3	150659462	150659462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catgaagaaggctgtccccaCcatggttaacacaataagga	9	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:150659462C>T	ENST00000327047.1	-	2	630	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	CLRN1_ENST00000295911.2_Missense_Mutation_p.V38M|RP11-166N6.2_ENST00000469268.1_RNA|RP11-166N6.3_ENST00000569170.1_Nonsense_Mutation_p.W23*|CLRN1_ENST00000328863.4_Missense_Mutation_p.V114M|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	114					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCTGTCCCCACCATGGTTAAC	0.428																																						ENST00000569170.1																			0											c.(67-69)tgG>tgA									124	113	117					3																	150659462		2203	4300	6503	SO:0001583	missense	0							g.chr3:150659462C>T	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"Usher syndrome 3A"	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.340G>A	3.37:g.150659462C>T	ENSP00000322280:p.Val114Met		Somatic				CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000295911.2_Missense_Mutation_p.V38M|CLRN1_ENST00000327047.1_Missense_Mutation_p.V114M|CLRN1_ENST00000328863.4_Missense_Mutation_p.V114M|RP11-166N6.2_ENST00000469268.1_RNA	p.W23*			WXS	Illumina GAIIx	Phase_I					1	68	-								D3DNJ3|E1ACU9|Q8N6A9	Nonsense_Mutation	SNP	ENST00000327047.1	37	c.69G>A	CCDS3153.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506730	0.44558	.	.	ENSG00000163646	ENST00000295911;ENST00000327047;ENST00000328863;ENST00000468836;ENST00000485607	T;T;T;T;T	0.81163	-1.44;-1.44;-1.44;-1.44;-1.46	5.1	4.23	0.50019	.	0.253714	0.38720	N	0.001585	D	0.84220	0.5424	M	0.66939	2.045	0.50313	D	0.99986	P;D	0.57571	0.782;0.98	P;P	0.55965	0.521;0.788	D	0.85126	0.0972	10	0.87932	D	0	-15.8493	9.8067	0.40797	0.141:0.7861:0.0:0.0729	.	114;38	P58418;P58418-1	CLRN1_HUMAN;.	M	38;114;114;38;2	ENSP00000295911:V38M;ENSP00000322280:V114M;ENSP00000329158:V114M;ENSP00000419892:V38M;ENSP00000419244:V2M	ENSP00000295911:V38M	V	-	1	0	CLRN1	152142152	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.847000	0.39299	1.283000	0.44513	-0.127000	0.14921	GTG		0.428	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			10	22	0	0	0	1	0	10	22					T	150659462	C	T	150659462	3	4	48	1	0	0	0	0	1	0	0	0	3559	507	18	3	391	3	CLRN1	3	150659462	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	973169	150659462	47362968	1092	5560										
IGSF10	285313	broad.mit.edu	37	chr3	151162927	151162927	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagtcactcttctttgtgttCttctgtccatcccaatctga	5	12	6	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:151162927C>A	ENST00000282466.3	-	4	4841	c.4842G>T	c.(4840-4842)aaG>aaT	p.K1614N		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	1614					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)			TCTTTGTGTTCTTCTGTCCAT	0.418																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(4840-4842)aaG>aaT		immunoglobulin superfamily, member 10							220	196	204					3																	151162927		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151162927C>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.4842G>T	3.37:g.151162927C>A	ENSP00000282466:p.Lys1614Asn		Somatic					p.K1614N	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	4841	-			1614					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.4842G>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853323	0.32791	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.69040	-0.37	5.86	4.04	0.47022	.	0.304440	0.23840	N	0.044059	T	0.40670	0.1126	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.18023	-1.0350	10	0.32370	T	0.25	.	5.0615	0.14559	0.1352:0.596:0.1905:0.0784	.	1614	Q6WRI0	IGS10_HUMAN	N	1614;241	ENSP00000282466:K1614N	ENSP00000282466:K1614N	K	-	3	2	IGSF10	152645617	0.141000	0.22595	0.839000	0.33178	0.937000	0.57800	0.958000	0.29227	0.800000	0.34041	-0.142000	0.14014	AAG		0.418	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		33	52	1	0	1.99505e-19	1	2.71627e-19	33	52					A	151162927	C	A	151162927	3	1	48	1	0	0	0	0	1	0	0	0	7606	912	32	2	3089	2	IGSF10	3	151162927	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	503465	151162927	46859503	1093	5561										
IGSF10	285313	broad.mit.edu	37	chr3	151165867	151165867	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttggtctttcggggtgacCtgtaatattcttaatgtgcc	10	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:151165867C>A	ENST00000282466.3	-	4	1901	c.1902G>T	c.(1900-1902)caG>caT	p.Q634H		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	634	Ig-like C2-type 2.				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)			TCGGGGTGACCTGTAATATTC	0.408																																						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.(1900-1902)caG>caT		immunoglobulin superfamily, member 10							177	158	164					3																	151165867		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165867C>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.1902G>T	3.37:g.151165867C>A	ENSP00000282466:p.Gln634His		Somatic					p.Q634H	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	1901	-			634			Ig-like C2-type 2.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1902G>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	2.994	-0.207516	0.06180	.	.	ENSG00000152580	ENST00000282466	T	0.27557	1.66	5.35	1.45	0.22620	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.499587	0.16462	N	0.213364	T	0.15912	0.0383	N	0.16903	0.455	0.09310	N	1	B	0.22003	0.063	B	0.19666	0.026	T	0.16600	-1.0397	10	0.36615	T	0.2	.	5.6761	0.17749	0.0:0.4897:0.2547:0.2556	.	634	Q6WRI0	IGS10_HUMAN	H	634	ENSP00000282466:Q634H	ENSP00000282466:Q634H	Q	-	3	2	IGSF10	152648557	0.003000	0.15002	0.020000	0.16555	0.223000	0.24884	-0.267000	0.08619	0.610000	0.30035	-0.137000	0.14449	CAG		0.408	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		18	51	1	0	6.94344e-10	1	8.4399e-10	18	51					A	151165867	C	A	151165867	3	1	48	1	0	0	0	0	1	0	0	0	7606	680	24	5	6029	5	IGSF10	3	151165867	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2940	151165867	46856563	1094	5562										
AADACL2	344752	broad.mit.edu	37	chr3	151463410	151463410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atatggagtggatcccacccGaatctgcattgcgggagaca	12	10	1	1	rs35364301		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:151463410G>A	ENST00000356517.3	+	4	654	c.545G>A	c.(544-546)cGa>cAa	p.R182Q		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	182						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GATCCCACCCGAATCTGCATT	0.423																																						ENST00000356517.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(544-546)cGa>cAa		arylacetamide deacetylase-like 2							70	79	76					3																	151463410		2203	4299	6502	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151463410G>A	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.545G>A	3.37:g.151463410G>A	ENSP00000348911:p.Arg182Gln		Somatic					p.R182Q	NM_207365.3	NP_997248.2	WXS	Illumina GAIIx	Phase_I	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		4	654	+			182					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.545G>A	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121906	0.37436	.	.	ENSG00000197953	ENST00000356517	T	0.64085	-0.08	4.71	0.901	0.19284	Alpha/beta hydrolase fold-3 (1);	0.063541	0.64402	N	0.000005	T	0.74861	0.3772	M	0.78637	2.42	0.20196	N	0.999927	D	0.89917	1.0	D	0.85130	0.997	T	0.65315	-0.6198	10	0.87932	D	0	-12.6695	8.9316	0.35675	0.3194:0.0:0.6806:0.0	.	182	Q6P093	ADCL2_HUMAN	Q	182	ENSP00000348911:R182Q	ENSP00000348911:R182Q	R	+	2	0	AADACL2	152946100	0.627000	0.27129	0.001000	0.08648	0.004000	0.04260	3.484000	0.53201	0.050000	0.15949	0.655000	0.94253	CGA		0.423	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		19	81	0	0	0	1	0	19	81					A	151463410	G	A	151463410	3	1	48	1	0	0	0	0	1	0	0	0	11	1058	37	1	559	1	AADACL2	3	151463410	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	297543	151463410	46559020	1095	5563										
AADAC	13	broad.mit.edu	37	chr3	151545599	151545599	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcaagtcatctcttcaaatTtgttaattggagttccctgc	6	9	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:151545599T>C	ENST00000232892.7	+	5	965	c.839T>C	c.(838-840)tTt>tCt	p.F280S	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	280					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)			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)			CTCTTCAAATTTGTTAATTGG	0.383																																					Ovarian(30;839 841 2699 32801 46334)	ENST00000232892.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19						c.(838-840)tTt>tCt		arylacetamide deacetylase							57	60	59					3																	151545599		2203	4299	6502	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.chr3:151545599T>C	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.839T>C	3.37:g.151545599T>C	ENSP00000232892:p.Phe280Ser		Somatic				RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	p.F280S	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	965	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	280					A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	c.839T>C	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955441	0.73902	.	.	ENSG00000114771	ENST00000232892	T	0.57595	0.39	4.81	4.81	0.61882	.	0.097041	0.64402	D	0.000001	T	0.73923	0.3649	M	0.88640	2.97	0.80722	D	1	D	0.67145	0.996	D	0.63703	0.917	T	0.78316	-0.2251	10	0.45353	T	0.12	-34.3775	14.3537	0.66722	0.0:0.0:0.0:1.0	.	280	P22760	AAAD_HUMAN	S	280	ENSP00000232892:F280S	ENSP00000232892:F280S	F	+	2	0	AADAC	153028289	1.000000	0.71417	0.577000	0.28562	0.994000	0.84299	3.956000	0.56722	1.783000	0.52377	0.482000	0.46254	TTT		0.383	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		5	60	0	0	0	1	0	5	60					C	151545599	T	C	151545599	3	2	48	1	0	0	0	0	1	0	0	0	10	1841	64	4	857	4	AADAC	3	151545599	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	82189	151545599	46476831	1096	5564										
MBNL1	4154	broad.mit.edu	37	chr3	152174096	152174096	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acgccagccactgtgtccgcAgcaacaacatctgccacaag	8	16	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:152174096A>G	ENST00000463374.1	+	7	1567	c.1056A>G	c.(1054-1056)gcA>gcG	p.A352A	MBNL1_ENST00000485509.1_Missense_Mutation_p.Q283R|MBNL1_ENST00000324210.5_Silent_p.A346A|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000355460.2_Silent_p.A334A|MBNL1_ENST00000324196.5_Missense_Mutation_p.Q283R|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000282486.6_Silent_p.A352A|MBNL1_ENST00000485910.1_Silent_p.A266A|MBNL1_ENST00000545754.1_Silent_p.A278A|MBNL1_ENST00000493459.1_Silent_p.A307A|RP11-362A9.3_ENST00000463255.1_RNA|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000282488.7_Silent_p.A266A	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	352					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTGTGTCCGCAGCAACAACAT	0.458																																						ENST00000324196.5																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(847-849)cAg>cGg		muscleblind-like splicing regulator 1							224	231	229					3																	152174096		2203	4300	6503	SO:0001819	synonymous_variant	4154				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	g.chr3:152174096A>G	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"Zinc fingers, CCCH-type domain containing"	6923	protein-coding gene	gene with protein product		606516	"muscleblind (Drosophila)-like", "muscleblind-like (Drosophila)"	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.1056A>G	3.37:g.152174096A>G			Somatic				MBNL1_ENST00000324210.5_Silent_p.A346A|MBNL1_ENST00000282488.7_Silent_p.A266A|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000463374.1_Silent_p.A352A|MBNL1_ENST00000545754.1_Silent_p.A278A|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000485910.1_Silent_p.A266A|MBNL1_ENST00000493459.1_Silent_p.A307A|MBNL1_ENST00000282486.6_Silent_p.A352A|MBNL1_ENST00000355460.2_Silent_p.A334A|MBNL1_ENST00000485509.1_Missense_Mutation_p.Q283R|MBNL1_ENST00000498502.1_Intron	p.Q283R	NM_207296.1	NP_997179.1	WXS	Illumina GAIIx	Phase_I	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	1637	+			291					E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	c.848A>G	CCDS3165.1	.	.	.	.	.	.	.	.	.	.	A	7.399	0.632337	0.14322	.	.	ENSG00000152601	ENST00000324196;ENST00000485509	T;T	0.37915	1.17;1.17	5.37	0.985	0.19779	.	.	.	.	.	T	0.24005	0.0581	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.06899	-1.0801	8	0.49607	T	0.09	.	4.9116	0.13825	0.6946:0.1128:0.0699:0.1227	.	283	E9PBW7	.	R	283	ENSP00000319374:Q283R;ENSP00000418876:Q283R	ENSP00000319374:Q283R	Q	+	2	0	MBNL1	153656786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.617000	0.46385	0.319000	0.23209	0.460000	0.39030	CAG		0.458	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038		86	151	0	0	0	1	0	86	151					G	152174096	A	G	152174096	2	3	48	1	0	0	0	0	0	0	0	1	9362	188	7	4		4	MBNL1	3	152174096	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	628497	152174096	45848334	1097	5565										
DHX36	170506	broad.mit.edu	37	chr3	154018402	154018402	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctcttcttccaaaacaatgTatcggatgagggcaacaatc	7	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:154018402T>G	ENST00000496811.1	-	11	1522	c.1442A>C	c.(1441-1443)tAc>tCc	p.Y481S	DHX36_ENST00000544526.1_Missense_Mutation_p.Y481S|DHX36_ENST00000308361.6_Missense_Mutation_p.Y481S|DHX36_ENST00000329463.5_Missense_Mutation_p.Y481S	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	481	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CAAAACAATGTATCGGATGAG	0.299																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1441-1443)tAc>tCc		DEAH (Asp-Glu-Ala-His) box polypeptide 36							113	109	111					3																	154018402		2203	4298	6501	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154018402T>G	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.1442A>C	3.37:g.154018402T>G	ENSP00000417078:p.Tyr481Ser		Somatic				DHX36_ENST00000544526.1_Missense_Mutation_p.Y481S|DHX36_ENST00000329463.5_Missense_Mutation_p.Y481S|DHX36_ENST00000308361.6_Missense_Mutation_p.Y481S	p.Y481S	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)		11	1522	-			481			Helicase C-terminal.		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.1442A>C	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.537178	0.65085	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.03386	4.12;4.05;3.95;3.95;4.13	5.75	5.75	0.90469	Helicase, C-terminal (1);	0.321537	0.41001	D	0.000963	T	0.07458	0.0188	L	0.48260	1.515	0.53005	D	0.999968	B;B;B	0.30763	0.294;0.294;0.194	B;B;B	0.37650	0.255;0.255;0.13	T	0.19321	-1.0309	10	0.56958	D	0.05	.	16.3534	0.83225	0.0:0.0:0.0:1.0	.	481;481;481	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	S	481;481;481;481;395	ENSP00000417078:Y481S;ENSP00000309296:Y481S;ENSP00000444247:Y481S;ENSP00000330113:Y481S;ENSP00000419862:Y395S	ENSP00000309296:Y481S	Y	-	2	0	DHX36	155501096	1.000000	0.71417	0.970000	0.41538	0.996000	0.88848	7.483000	0.81158	2.311000	0.77944	0.528000	0.53228	TAC		0.299	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		13	24	0	0	0	1	0	13	24					G	154018402	T	G	154018402	3	3	48	1	0	0	0	0	1	0	0	0	4511	1638	57	4	1644	4	DHX36	3	154018402	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1844306	154018402	44004028	1098	5566										
DHX36	170506	broad.mit.edu	37	chr3	154018782	154018782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaaataaacttaccttcttCgcagttcccttacataatct	2	12	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:154018782C>T	ENST00000496811.1	-	10	1432	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	DHX36_ENST00000544526.1_Missense_Mutation_p.R451Q|DHX36_ENST00000308361.6_Missense_Mutation_p.R451Q|DHX36_ENST00000329463.5_Missense_Mutation_p.R451Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	451					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)			TTACCTTCTTCGCAGTTCCCT	0.373																																						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.(1351-1353)cGa>cAa		DEAH (Asp-Glu-Ala-His) box polypeptide 36							163	169	167					3																	154018782		2202	4299	6501	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154018782C>T	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.1352G>A	3.37:g.154018782C>T	ENSP00000417078:p.Arg451Gln		Somatic				DHX36_ENST00000544526.1_Missense_Mutation_p.R451Q|DHX36_ENST00000329463.5_Missense_Mutation_p.R451Q|DHX36_ENST00000308361.6_Missense_Mutation_p.R451Q	p.R451Q	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)		10	1432	-			451					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.1352G>A	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	C	7.064	0.566962	0.13560	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.03301	4.16;4.07;3.98;3.98;4.16	5.88	5.0	0.66597	.	0.238298	0.43579	N	0.000559	T	0.03783	0.0107	L	0.37750	1.13	0.29895	N	0.824849	B;B;B	0.18310	0.027;0.027;0.016	B;B;B	0.15484	0.013;0.013;0.006	T	0.21143	-1.0254	10	0.22109	T	0.4	.	10.5259	0.44948	0.0:0.796:0.0:0.204	.	451;451;451	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	Q	451;451;451;451;365	ENSP00000417078:R451Q;ENSP00000309296:R451Q;ENSP00000444247:R451Q;ENSP00000330113:R451Q;ENSP00000419862:R365Q	ENSP00000309296:R451Q	R	-	2	0	DHX36	155501476	0.535000	0.26370	0.037000	0.18230	0.369000	0.29798	1.175000	0.31944	1.471000	0.48121	0.557000	0.71058	CGA		0.373	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		36	61	0	0	0	1	0	36	61					T	154018782	C	T	154018782	3	4	48	1	0	0	0	0	1	0	0	0	4511	884	31	1	1738	1	DHX36	3	154018782	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	380	154018782	44003648	1099	5567										
GPR149	344758	broad.mit.edu	37	chr3	154146951	154146951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccacacggtcagcaccacgcCgagcacctggcccgatcttc	9	19	2	0	rs375798320		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:154146951C>T	ENST00000389740.2	-	1	553	c.454G>A	c.(454-456)Ggc>Agc	p.G152S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	152					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGCACCACGCCGAGCACCTGG	0.637																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(454-456)Ggc>Agc		G protein-coupled receptor 149		C	SER/GLY	0,4038		0,0,2019	24	28	27		454	3.6	0	3		27	1,8355		0,1,4177	no	missense	GPR149	NM_001038705.1	56	0,1,6196	TT,TC,CC		0.012,0.0,0.0081	benign	152/732	154146951	1,12393	2019	4178	6197	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154146951C>T	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.454G>A	3.37:g.154146951C>T	ENSP00000374390:p.Gly152Ser		Somatic					p.G152S	NM_001038705.1	NP_001033794.1	WXS	Illumina GAIIx	Phase_I	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	553	-			152						Missense_Mutation	SNP	ENST00000389740.2	37	c.454G>A	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	1.519	-0.547482	0.04024	0.0	1.2E-4	ENSG00000174948	ENST00000389740	T	0.71817	-0.6	5.41	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.334930	0.34223	N	0.004152	T	0.58722	0.2142	L	0.51422	1.61	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.48811	-0.9002	10	0.34782	T	0.22	-4.2503	4.4421	0.11579	0.2646:0.5428:0.1137:0.0789	.	152	Q86SP6	GP149_HUMAN	S	152	ENSP00000374390:G152S	ENSP00000374390:G152S	G	-	1	0	GPR149	155629645	0.017000	0.18338	0.010000	0.14722	0.013000	0.08279	1.218000	0.32467	0.650000	0.30769	-0.137000	0.14449	GGC		0.637	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		25	48	0	0	0	1	0	25	48					T	154146951	C	T	154146951	3	4	48	1	0	0	0	0	1	0	0	0	6662	652	23	1	1757	1	GPR149	3	154146951	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	128169	154146951	43875479	1100	5568										
PLCH1	23007	broad.mit.edu	37	chr3	155199563	155199563	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatactttgagttttgacatCttgaatattgttgaatattt	6	3	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:155199563C>A	ENST00000340059.7	-	23	4275	c.4276G>T	c.(4276-4278)Gat>Tat	p.D1426Y	PLCH1_ENST00000414191.1_Missense_Mutation_p.D1388Y|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1388Y|PLCH1_ENST00000460012.1_Missense_Mutation_p.D1388Y|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1426					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)			GTTTTGACATCTTGAATATTG	0.408																																						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.(4162-4164)Gat>Tat		phospholipase C, eta 1							92	93	93					3																	155199563		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.chr3:155199563C>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.4276G>T	3.37:g.155199563C>A	ENSP00000345988:p.Asp1426Tyr		Somatic				PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1388Y|PLCH1_ENST00000340059.7_Missense_Mutation_p.D1426Y|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1388Y	p.D1388Y			WXS	Illumina GAIIx	Phase_I	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4519	-			1426					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4162G>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751562	0.31046	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	4.77	1.32	0.21799	.	1.553680	0.03821	N	0.267452	T	0.66713	0.2817	N	0.24115	0.695	0.09310	N	1	P;P	0.41569	0.755;0.641	B;B	0.41813	0.367;0.202	T	0.58504	-0.7625	10	0.59425	D	0.04	.	3.2905	0.06947	0.189:0.4388:0.0:0.3722	.	1388;1426	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	Y	1388;1426;1388;1388	ENSP00000417502:D1388Y;ENSP00000345988:D1426Y;ENSP00000335469:D1388Y;ENSP00000412977:D1388Y	ENSP00000335469:D1388Y	D	-	1	0	PLCH1	156682257	0.000000	0.05858	0.012000	0.15200	0.981000	0.71138	0.010000	0.13242	0.390000	0.25115	0.585000	0.79938	GAT		0.408	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		27	51	1	0	1.04121e-07	1	1.21041e-07	27	51					A	155199563	C	A	155199563	3	1	48	1	0	0	0	0	1	0	0	0	12046	913	32	2	809	2	PLCH1	3	155199563	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1052612	155199563	42822867	1101	5569										
GMPS	8833	broad.mit.edu	37	chr3	155611439	155611439	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aactgttcgtgcagtctgaaAttttccccttggaaacacca	7	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:155611439A>C	ENST00000496455.2	+	2	495	c.160A>C	c.(160-162)Att>Ctt	p.I54L	GMPS_ENST00000295920.7_Intron	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	54	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	GCAGTCTGAAATTTTCCCCTT	0.443			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	ENST00000496455.1				Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(160-162)Att>Ctt		guanine monphosphate synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						80	77	78					3																	155611439		1911	4126	6037	SO:0001583	missense	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155611439A>C	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"GMP synthase"	600358	"guanine monphosphate synthetase"			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.160A>C	3.37:g.155611439A>C	ENSP00000419851:p.Ile54Leu		Somatic				GMPS_ENST00000295920.7_Intron	p.I54L	NM_003875.2	NP_003866.1	WXS	Illumina GAIIx	Phase_I	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		2	495	+			54			Glutamine amidotransferase type-1.		A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	c.160A>C	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.776266	0.49786	.	.	ENSG00000163655	ENST00000496455;ENST00000541628	D	0.90069	-2.61	5.41	2.94	0.34122	Glutamine amidotransferase type 1 (2);GMP synthase, N-terminal (1);	0.123853	0.53938	N	0.000059	T	0.79499	0.4456	L	0.31294	0.92	0.80722	D	1	B	0.16166	0.016	B	0.28139	0.086	T	0.65849	-0.6068	10	0.06757	T	0.87	-7.9692	8.4549	0.32893	0.8001:0.1303:0.0696:0.0	.	54	P49915	GUAA_HUMAN	L	54	ENSP00000419851:I54L	ENSP00000419851:I54L	I	+	1	0	GMPS	157094133	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.084000	0.64462	0.852000	0.35287	0.450000	0.29827	ATT		0.443	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			13	20	0	0	0	1	0	13	20					C	155611439	A	C	155611439	3	2	48	1	0	0	0	0	1	0	0	0	6506	101	4	4	166	4	GMPS	3	155611439	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	411876	155611439	42410991	1102	5570										
GMPS	8833	broad.mit.edu	37	chr3	155652731	155652731	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttatatatttggcccaccagTtaaagaacctcctacagatg	6	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:155652731T>C	ENST00000496455.2	+	14	2038	c.1703T>C	c.(1702-1704)gTt>gCt	p.V568A	GMPS_ENST00000295920.7_Missense_Mutation_p.V469A	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	568					glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	GGCCCACCAGTTAAAGAACCT	0.378			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	ENST00000496455.1				Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1702-1704)gTt>gCt		guanine monphosphate synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						151	135	140					3																	155652731		1819	4069	5888	SO:0001583	missense	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155652731T>C	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"GMP synthase"	600358	"guanine monphosphate synthetase"			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1703T>C	3.37:g.155652731T>C	ENSP00000419851:p.Val568Ala		Somatic				GMPS_ENST00000295920.7_Missense_Mutation_p.V469A	p.V568A	NM_003875.2	NP_003866.1	WXS	Illumina GAIIx	Phase_I	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		14	2038	+			568					A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	37	c.1703T>C	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.002806	0.93287	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	5.67	5.67	0.87782	GMP synthase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	L	0.53249	1.67	0.80722	D	1	P;B	0.36577	0.558;0.425	P;P	0.48770	0.534;0.589	T	0.69289	-0.5184	9	0.45353	T	0.12	-22.5471	15.9135	0.79491	0.0:0.0:0.0:1.0	.	469;568	F8W720;P49915	.;GUAA_HUMAN	A	568;469;517;568	.	ENSP00000295920:V469A	V	+	2	0	GMPS	157135425	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.903000	0.87398	2.153000	0.67306	0.528000	0.53228	GTT		0.378	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			19	52	0	0	0	1	0	19	52					C	155652731	T	C	155652731	3	2	48	1	0	0	0	0	1	0	0	0	6506	1725	60	4	1757	4	GMPS	3	155652731	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	41292	155652731	42369699	1103	5571										
KCNAB1	7881	broad.mit.edu	37	chr3	156232899	156232899	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctccctaggaagcctattCtgtagcaagacagttcaata	7	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:156232899C>T	ENST00000490337.1	+	10	819	c.755C>T	c.(754-756)tCt>tTt	p.S252F	KCNAB1_ENST00000471742.1_Missense_Mutation_p.S241F|KCNAB1_ENST00000302490.8_Missense_Mutation_p.S234F|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.S205F|KCNAB1_ENST00000389636.5_Missense_Mutation_p.S223F	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	252					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)			GAAGCCTATTCTGTAGCAAGA	0.423																																						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.(700-702)tCt>tTt		potassium voltage-gated channel, shaker-related subfamily, beta member 1							84	84	84					3																	156232899		2203	4300	6503	SO:0001583	missense	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156232899C>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.755C>T	3.37:g.156232899C>T	ENSP00000419952:p.Ser252Phe		Somatic				KCNAB1_ENST00000389636.5_Missense_Mutation_p.S223F|KCNAB1_ENST00000389634.5_Missense_Mutation_p.S205F|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000471742.1_Missense_Mutation_p.S241F|KCNAB1_ENST00000490337.1_Missense_Mutation_p.S252F	p.S234F	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)		10	1572	+			252					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	c.701C>T	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379899	0.82682	.	.	ENSG00000169282	ENST00000490337;ENST00000389636;ENST00000471742;ENST00000302490;ENST00000389634	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.29	4.41	0.53225	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.992;0.992;0.994;0.983;0.994	T	0.65981	-0.6036	10	0.72032	D	0.01	-12.4407	14.2254	0.65855	0.1507:0.8493:0.0:0.0	.	223;205;234;241;252	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	F	252;223;241;234;205	ENSP00000419952:S252F;ENSP00000374287:S223F;ENSP00000418956:S241F;ENSP00000305858:S234F;ENSP00000374285:S205F	ENSP00000305858:S234F	S	+	2	0	KCNAB1	157715593	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.468000	0.80943	1.222000	0.43521	0.655000	0.94253	TCT		0.423	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		14	49	0	0	0	1	0	14	49					T	156232899	C	T	156232899	3	4	48	1	0	0	0	0	1	0	0	0	8018	913	32	3	1264	3	KCNAB1	3	156232899	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	580168	156232899	41789531	1104	5572										
VEPH1	79674	broad.mit.edu	37	chr3	157177906	157177906	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttcccacaaaccataaatgCttgatgaaaatacttttaaa	3	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:157177906C>A	ENST00000362010.2	-	4	837				VEPH1_ENST00000494677.1_Missense_Mutation_p.S198I|VEPH1_ENST00000537559.1_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000468233.1_Missense_Mutation_p.S198I|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392832.2_Intron	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1							plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACCATAAATGCTTGATGAAAA	0.378																																						ENST00000494677.1																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(592-594)aGc>aTc		ventricular zone expressed PH domain-containing 1							156	136	142					3																	157177906		692	1591	2283	SO:0001627	intron_variant	79674					plasma membrane		g.chr3:157177906C>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.529+63G>T	3.37:g.157177906C>A			Somatic				VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000537559.1_Intron|VEPH1_ENST00000468233.1_Missense_Mutation_p.S198I|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron	p.S198I	NM_001167915.1	NP_001161387.1	WXS	Illumina GAIIx	Phase_I	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		5	1115	-			0					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.593G>T	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	5.537	0.283927	0.10458	.	.	ENSG00000197415	ENST00000494677;ENST00000468233	.	.	.	4.2	-5.64	0.02466	.	.	.	.	.	T	0.23370	0.0565	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.26538	-1.0100	7	0.66056	D	0.02	.	2.7166	0.05189	0.1284:0.2302:0.1265:0.5149	.	198	Q14D04-3	.	I	198	.	ENSP00000417268:S198I	S	-	2	0	VEPH1	158660600	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.362000	0.02595	-1.091000	0.03065	-0.736000	0.03550	AGC		0.378	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		13	41	1	0	7.03913e-09	1	8.36985e-09	13	41					A	157177906	C	A	157177906	1	1	48	0	1	0	0	0	0	0	0	0	17169	797	28	5		5	VEPH1	3	157177906	Intron	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	945007	157177906	40844524	1105	5573										
VEPH1	79674	broad.mit.edu	37	chr3	157178088	157178088	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agttccttgttgcctctgtgGaggaatttcactgcaatggg	12	8	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:157178088G>A	ENST00000362010.2	-	4	718	c.411C>T	c.(409-411)ctC>ctT	p.L137L	VEPH1_ENST00000494677.1_Silent_p.L137L|VEPH1_ENST00000537559.1_Silent_p.L137L|VEPH1_ENST00000392833.2_Silent_p.L137L|VEPH1_ENST00000468233.1_Silent_p.L137L|VEPH1_ENST00000543418.1_Silent_p.L137L|VEPH1_ENST00000392832.2_Silent_p.L137L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	137						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGCCTCTGTGGAGGAATTTCA	0.443																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(409-411)ctC>ctT		ventricular zone expressed PH domain-containing 1							99	93	95					3																	157178088		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:157178088G>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.411C>T	3.37:g.157178088G>A			Somatic				VEPH1_ENST00000543418.1_Silent_p.L137L|VEPH1_ENST00000537559.1_Silent_p.L137L|VEPH1_ENST00000468233.1_Silent_p.L137L|VEPH1_ENST00000494677.1_Silent_p.L137L|VEPH1_ENST00000392832.2_Silent_p.L137L|VEPH1_ENST00000392833.2_Silent_p.L137L	p.L137L	NM_001167912.1	NP_001161384.1	WXS	Illumina GAIIx	Phase_I	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		4	718	-			137					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.411C>T	CCDS3179.1																																																																																				0.443	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		26	57	0	0	0	1	0	26	57					A	157178088	G	A	157178088	2	1	48	1	0	0	0	0	0	0	0	1	17169	1161	41	3		3	VEPH1	3	157178088	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	182	157178088	40844342	1106	5574										
IL12A	3592	broad.mit.edu	37	chr3	159708090	159708090	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgagggccgtcagcaacatGctccagaaggtgagcctttc	12	12	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:159708090G>T	ENST00000305579.2	+	2	562	c.255G>T	c.(253-255)atG>atT	p.M85I	IL12A_ENST00000466512.1_Missense_Mutation_p.M85I|IL12A_ENST00000480787.1_Missense_Mutation_p.M85I|IL12A-AS1_ENST00000497452.1_RNA	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A	51					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)			TCAGCAACATGCTCCAGAAGG	0.592																																						ENST00000305579.2																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9						c.(253-255)atG>atT		interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)							102	92	95					3																	159708090		2203	4300	6503	SO:0001583	missense	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.chr3:159708090G>T	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.255G>T	3.37:g.159708090G>T	ENSP00000303231:p.Met85Ile		Somatic				IL12A_ENST00000466512.1_Missense_Mutation_p.M85I|CTD-2049J23.2_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Missense_Mutation_p.M85I	p.M85I	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)		2	562	+			51					Q96QZ1	Missense_Mutation	SNP	ENST00000305579.2	37	c.255G>T	CCDS3187.1	.	.	.	.	.	.	.	.	.	.	G	9.464	1.093907	0.20471	.	.	ENSG00000168811	ENST00000305579;ENST00000480787;ENST00000466512	.	.	.	4.72	-3.59	0.04583	.	1.035890	0.07519	N	0.910240	T	0.15912	0.0383	N	0.17082	0.46	0.09310	N	1	B	0.29671	0.254	B	0.25987	0.065	T	0.20505	-1.0273	9	0.24483	T	0.36	-0.0643	1.8244	0.03117	0.1616:0.3704:0.2167:0.2513	.	85	O60595	.	I	85	.	ENSP00000303231:M85I	M	+	3	0	IL12A	161190784	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.744000	0.01832	-0.493000	0.06678	-0.305000	0.09177	ATG		0.592	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352602.2	NM_000882		31	53	1	0	1.45844e-13	1	1.87318e-13	31	53					T	159708090	G	T	159708090	3	4	48	1	0	0	0	0	1	0	0	0	7633	1319	46	5	261	5	IL12A	3	159708090	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2530002	159708090	38314340	1107	5575										
SMC4	10051	broad.mit.edu	37	chr3	160120524	160120524	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaatgttattgattctatgCtttttgtgtttggctatcga	8	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160120524C>A	ENST00000357388.3	+	4	830	c.379C>A	c.(379-381)Ctt>Att	p.L127I	MIR15B_ENST00000385045.1_RNA|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.L127I|SMC4_ENST00000462787.1_Missense_Mutation_p.L127I|SMC4_ENST00000469762.1_Missense_Mutation_p.L102I|MIR16-2_ENST00000362117.1_RNA|SMC4_ENST00000344722.5_Missense_Mutation_p.L127I	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	127					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)			TGATTCTATGCTTTTTGTGTT	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.(379-381)Ctt>Att		structural maintenance of chromosomes 4							99	104	102					3																	160120524		2203	4300	6503	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160120524C>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.379C>A	3.37:g.160120524C>A	ENSP00000349961:p.Leu127Ile		Somatic				SMC4_ENST00000360111.2_Missense_Mutation_p.L127I|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.L127I|SMC4_ENST00000469762.1_Missense_Mutation_p.L102I|SMC4_ENST00000344722.5_Missense_Mutation_p.L127I	p.L127I	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)		4	830	+			127					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.379C>A	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	33	5.284437	0.95517	.	.	ENSG00000113810	ENST00000497311;ENST00000357388;ENST00000465903;ENST00000485645;ENST00000360111;ENST00000392788;ENST00000472991;ENST00000467468;ENST00000469762;ENST00000489573;ENST00000462787;ENST00000490207;ENST00000485867;ENST00000344722	T;T;T;T;T;T;T;T;T;T;T;T;T	0.10382	3.24;2.88;3.24;3.24;2.88;3.24;3.24;2.88;3.24;2.88;3.24;3.24;2.88	5.38	5.38	0.77491	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	H	0.95328	3.655	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.63501	-0.6623	10	0.56958	D	0.05	-14.1424	19.1303	0.93402	0.0:1.0:0.0:0.0	.	127;102;127	Q9NTJ3-2;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	I	127;127;127;127;127;127;2;2;102;127;127;127;55;127	ENSP00000418820:L127I;ENSP00000349961:L127I;ENSP00000419247:L127I;ENSP00000420644:L127I;ENSP00000353225:L127I;ENSP00000417999:L2I;ENSP00000419360:L2I;ENSP00000417964:L102I;ENSP00000420121:L127I;ENSP00000420734:L127I;ENSP00000420817:L127I;ENSP00000417612:L55I;ENSP00000341382:L127I	ENSP00000341382:L127I	L	+	1	0	SMC4	161603218	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.724000	0.84798	2.514000	0.84764	0.491000	0.48974	CTT		0.338	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			24	45	1	0	1.10923e-09	1	1.34134e-09	24	45					A	160120524	C	A	160120524	3	1	48	1	0	0	0	0	1	0	0	0	14800	797	28	5	389	5	SMC4	3	160120524	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	412434	160120524	37901906	1108	5576										
SMC4	10051	broad.mit.edu	37	chr3	160150975	160150975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttgattttaaaaatgtgtCcattgttgcattttatatat	5	5	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160150975C>T	ENST00000357388.3	+	23	4143	c.3692C>T	c.(3691-3693)tCc>tTc	p.S1231F	RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_3'UTR|SMC4_ENST00000360111.2_Missense_Mutation_p.S1173F|SMC4_ENST00000462787.1_Missense_Mutation_p.S1173F|SMC4_ENST00000469762.1_Missense_Mutation_p.S1206F|SMC4_ENST00000344722.5_Missense_Mutation_p.S1231F	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1231					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)			AAAAATGTGTCCATTGTTGCA	0.343																																						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.(3691-3693)tCc>tTc		structural maintenance of chromosomes 4							121	120	121					3																	160150975		2203	4300	6503	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160150975C>T	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.3692C>T	3.37:g.160150975C>T	ENSP00000349961:p.Ser1231Phe		Somatic				SMC4_ENST00000360111.2_Missense_Mutation_p.S1173F|RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_3'UTR|SMC4_ENST00000462787.1_Missense_Mutation_p.S1173F|SMC4_ENST00000469762.1_Missense_Mutation_p.S1206F|SMC4_ENST00000344722.5_Missense_Mutation_p.S1231F	p.S1231F	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)		23	4143	+			1231					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.3692C>T	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047122	0.75846	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.74	5.74	0.90152	RecF/RecN/SMC (1);	0.052158	0.85682	D	0.000000	D	0.84995	0.5596	M	0.86864	2.845	0.80722	D	1	P;P;D;B	0.89917	0.61;0.904;1.0;0.414	B;P;D;B	0.91635	0.258;0.867;0.999;0.272	D	0.85377	0.1117	10	0.49607	T	0.09	-9.8081	19.9265	0.97104	0.0:1.0:0.0:0.0	.	1173;1206;1206;1231	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	F	1231;1173;1206;1173;1231;825	ENSP00000349961:S1231F;ENSP00000353225:S1173F;ENSP00000417964:S1206F;ENSP00000420734:S1173F;ENSP00000341382:S1231F	ENSP00000341382:S1231F	S	+	2	0	SMC4	161633669	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.784000	0.85713	2.723000	0.93209	0.591000	0.81541	TCC		0.343	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			27	33	0	0	0	1	0	27	33					T	160150975	C	T	160150975	3	4	48	1	0	0	0	0	1	0	0	0	14800	855	30	3	3778	3	SMC4	3	160150975	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	30451	160150975	37871455	1109	5577										
ARL14	80117	broad.mit.edu	37	chr3	160395267	160395267	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atattaccaccatccctacaAtaggtttcaatgtggaaatg	6	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160395267A>C	ENST00000320767.2	+	1	320	c.133A>C	c.(133-135)Ata>Cta	p.I45L		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	45					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	GTP binding (GO:0005525)			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			CATCCCTACAATAGGTTTCAA	0.413																																						ENST00000320767.2																			0				lung(6)	6						c.(133-135)Ata>Cta		ADP-ribosylation factor-like 14							122	114	117					3																	160395267		2203	4300	6503	SO:0001583	missense	80117				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr3:160395267A>C	AK026248	CCDS3192.1	3q25.33	2014-05-09	2005-11-03	2005-11-03	ENSG00000179674	ENSG00000179674		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	22974	protein-coding gene	gene with protein product		614439	"ADP-ribosylation factor 7"	ARF7		15367757	Standard	NM_025047		Approved	FLJ22595	uc003fdq.3	Q8N4G2	OTTHUMG00000159031	ENST00000320767.2:c.133A>C	3.37:g.160395267A>C	ENSP00000323847:p.Ile45Leu		Somatic					p.I45L	NM_025047.2	NP_079323.1	WXS	Illumina GAIIx	Phase_I	Q8N4G2	ARL14_HUMAN	Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)		1	320	+			45					Q9H655	Missense_Mutation	SNP	ENST00000320767.2	37	c.133A>C	CCDS3192.1	.	.	.	.	.	.	.	.	.	.	A	9.933	1.215308	0.22373	.	.	ENSG00000179674	ENST00000320767	T	0.70516	-0.49	5.56	-2.95	0.05564	Small GTP-binding protein domain (1);	0.295155	0.38058	N	0.001830	T	0.60728	0.2291	L	0.45285	1.41	0.09310	N	0.999999	P	0.35192	0.489	B	0.38428	0.273	T	0.60010	-0.7346	10	0.87932	D	0	-11.9918	12.5167	0.56036	0.4918:0.0:0.5082:0.0	.	45	Q8N4G2	ARL14_HUMAN	L	45	ENSP00000323847:I45L	ENSP00000323847:I45L	I	+	1	0	ARL14	161877961	0.085000	0.21516	0.001000	0.08648	0.034000	0.12701	0.650000	0.24858	-0.461000	0.06993	-0.456000	0.05471	ATA		0.413	ARL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352958.1	NM_025047		24	50	0	0	0	1	0	24	50					C	160395267	A	C	160395267	3	2	48	1	0	0	0	0	1	0	0	0	930	101	4	4	135	4	ARL14	3	160395267	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	244292	160395267	37627163	1110	5578										
PPM1L	151742	broad.mit.edu	37	chr3	160786805	160786805	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagcaatgaagaagcagttCgattcatcaaggagcgcttg	11	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160786805C>T	ENST00000498165.1	+	4	1044	c.943C>T	c.(943-945)Cga>Tga	p.R315*	PPM1L_ENST00000464260.1_Nonsense_Mutation_p.R136*|PPM1L_ENST00000295839.9_Nonsense_Mutation_p.R188*|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	315	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)	p.R315*(2)|p.R136*(2)		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)			AGAAGCAGTTCGATTCATCAA	0.473																																					Pancreas(86;250 1994 13715 43211)	ENST00000498165.1																			4	Substitution - Nonsense(4)	p.R315*(2)|p.R136*(2)	large_intestine(4)	breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(943-945)Cga>Tga		protein phosphatase, Mg2+/Mn2+ dependent, 1L							105	96	99					3																	160786805		2203	4300	6503	SO:0001587	stop_gained	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.chr3:160786805C>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.943C>T	3.37:g.160786805C>T	ENSP00000417659:p.Arg315*		Somatic				PPM1L_ENST00000295839.9_Nonsense_Mutation_p.R188*|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Nonsense_Mutation_p.R136*	p.R315*	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)		4	1044	+			315			PP2C-like.		Q2M3J2|Q96NM7	Nonsense_Mutation	SNP	ENST00000498165.1	37	c.943C>T	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048756	0.75846	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	14.0648	0.64821	0.1511:0.8489:0.0:0.0	.	.	.	.	X	315;136;188	.	ENSP00000295839:R188X	R	+	1	2	PPM1L	162269499	0.998000	0.40836	0.998000	0.56505	0.853000	0.48598	3.777000	0.55364	2.388000	0.81334	0.650000	0.86243	CGA		0.473	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		23	48	0	0	0	1	0	23	48					T	160786805	C	T	160786805	4	4	48	1	0	0	0	0	0	1	0	0	12356	876	31	1	957	1	PPM1L	3	160786805	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	391538	160786805	37235625	1111	5579										
B3GALNT1	8706	broad.mit.edu	37	chr3	160804162	160804162	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctaaggacaatgccaacatTttgtcttccttttcagcctc	5	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160804162T>C	ENST00000392781.2	-	8	1128	c.381A>G	c.(379-381)aaA>aaG	p.K127K	B3GALNT1_ENST00000473285.1_Silent_p.K127K|B3GALNT1_ENST00000392779.2_Silent_p.K127K|B3GALNT1_ENST00000392780.1_Silent_p.K127K|B3GALNT1_ENST00000488170.1_Silent_p.K127K|B3GALNT1_ENST00000320474.4_Silent_p.K127K|B3GALNT1_ENST00000417187.1_Intron	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	127					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			ATGCCAACATTTTGTCTTCCT	0.383																																						ENST00000392781.2																			0				breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(379-381)aaA>aaG		beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)							108	104	105					3																	160804162		2203	4300	6503	SO:0001819	synonymous_variant	8706				protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr3:160804162T>C	Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"Blood group antigens", "Beta 3-glycosyltransferases"	918	protein-coding gene	gene with protein product	"globoside synthase", "P antigen synthase"	603094	"UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)", "UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.381A>G	3.37:g.160804162T>C			Somatic				B3GALNT1_ENST00000392780.1_Silent_p.K127K|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000488170.1_Silent_p.K127K|B3GALNT1_ENST00000320474.4_Silent_p.K127K|B3GALNT1_ENST00000392779.2_Silent_p.K127K|B3GALNT1_ENST00000473285.1_Silent_p.K127K	p.K127K	NM_001038628.1	NP_001033717.1	WXS	Illumina GAIIx	Phase_I	O75752	B3GL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)		8	1128	-			127					D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Silent	SNP	ENST00000392781.2	37	c.381A>G	CCDS3193.1																																																																																				0.383	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167		23	44	0	0	0	1	0	23	44					C	160804162	T	C	160804162	2	2	48	1	0	0	0	0	0	0	0	1	1245	1838	64	4		4	B3GALNT1	3	160804162	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	17357	160804162	37218268	1112	5580										
NMD3	51068	broad.mit.edu	37	chr3	160952642	160952642	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgattcaagtgaggcaaaAggtaatgagagaagatgatg	14	2	1	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160952642A>G	ENST00000460469.1	+	5	940	c.485A>G	c.(484-486)aAg>aGg	p.K162R	NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Splice_Site_p.K162R|NMD3_ENST00000351193.2_Splice_Site_p.K162R			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	162					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GTGAGGCAAAAGGTAATGAGA	0.398																																						ENST00000460469.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25						c.e5+1		NMD3 ribosome export adaptor							174	166	169					3																	160952642		2203	4300	6503	SO:0001630	splice_region_variant	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160952642A>G	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"NMD3 homolog (S. cerevisiae)"			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.486+1A>G	3.37:g.160952642A>G			Somatic				NMD3_ENST00000472947.1_Splice_Site_p.K162_splice|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000351193.2_Splice_Site_p.K162_splice	p.K162_splice			WXS	Illumina GAIIx	Phase_I	Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		5	940	+			162					D3DNM7|Q9Y2Z6	Splice_Site	SNP	ENST00000460469.1	37	c.486_splice	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.540613	0.85917	.	.	ENSG00000169251	ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469;ENST00000540137	T;T;T;T;T;T	0.52983	0.72;0.66;0.64;0.72;0.67;0.66	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.58552	0.2130	L	0.41415	1.275	0.80722	D	1	P;D	0.89917	0.737;1.0	P;D	0.91635	0.601;0.999	T	0.56565	-0.7958	9	.	.	.	-14.0199	13.862	0.63566	1.0:0.0:0.0:0.0	.	162;162	C9JA08;Q96D46	.;NMD3_HUMAN	R	162;162;162;162;162;162;42	ENSP00000419030:K162R;ENSP00000307525:K162R;ENSP00000417559:K162R;ENSP00000418908:K162R;ENSP00000419647:K162R;ENSP00000419004:K162R	.	K	+	2	0	NMD3	162435336	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.632000	0.90995	1.923000	0.55706	0.482000	0.46254	AAG		0.398	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938	Missense_Mutation	28	70	0	0	0	1	0	28	70					G	160952642	A	G	160952642	5	3	48	1	0	0	0	0	0	0	1	0	10497	86	3	4	503	4	NMD3	3	160952642	Splice_Site	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	148480	160952642	37069788	1113	5581										
SI	6476	broad.mit.edu	37	chr3	164725732	164725732	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggataatttagttcgtcatTtctgcattgattagtagttg	9	4	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:164725732T>G	ENST00000264382.3	-	36	4296	c.4234A>C	c.(4234-4236)Aat>Cat	p.N1412H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1412	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)	AGTTCGTCATTTCTGCATTGA	0.259										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.(4234-4236)Aat>Cat		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						148	154	152					3																	164725732		2202	4293	6495	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.chr3:164725732T>G	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.4234A>C	3.37:g.164725732T>G	ENSP00000264382:p.Asn1412His	HNSCC(35;0.089)	Somatic					p.N1412H	NM_001041.3	NP_001032.2	WXS	Illumina GAIIx	Phase_I	P14410	SUIS_HUMAN			36	4296	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1412			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4234A>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.160158	0.38119	.	.	ENSG00000090402	ENST00000264382	D	0.89270	-2.49	4.92	3.76	0.43208	Glycoside hydrolase, superfamily (1);	0.349225	0.31601	N	0.007364	D	0.90974	0.7162	M	0.64404	1.975	0.34921	D	0.748393	P	0.40602	0.723	P	0.54706	0.759	D	0.92810	0.6263	10	0.66056	D	0.02	.	8.7642	0.34694	0.0:0.0867:0.0:0.9133	.	1412	P14410	SUIS_HUMAN	H	1412	ENSP00000264382:N1412H	ENSP00000264382:N1412H	N	-	1	0	SI	166208426	0.978000	0.34361	0.900000	0.35374	0.306000	0.27790	0.171000	0.16685	0.907000	0.36646	0.477000	0.44152	AAT		0.259	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		12	33	0	0	0	1	0	12	33					G	164725732	T	G	164725732	3	3	48	1	0	0	0	0	1	0	0	0	14312	1841	64	4	1301	4	SI	3	164725732	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	3773090	164725732	33296698	1114	5582										
SI	6476	broad.mit.edu	37	chr3	164737404	164737404	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acctacaccagggggttggtCtcttgtgaacattccccaag	10	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:164737404C>T	ENST00000264382.3	-	28	3471	c.3409G>A	c.(3409-3411)Gac>Aac	p.D1137N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1137	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)	GGGGGTTGGTCTCTTGTGAAC	0.463										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.(3409-3411)Gac>Aac		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						132	123	126					3																	164737404		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164737404C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3409G>A	3.37:g.164737404C>T	ENSP00000264382:p.Asp1137Asn	HNSCC(35;0.089)	Somatic					p.D1137N	NM_001041.3	NP_001032.2	WXS	Illumina GAIIx	Phase_I	P14410	SUIS_HUMAN			28	3471	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1137			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3409G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962635	0.92791	.	.	ENSG00000090402	ENST00000264382	D	0.90620	-2.7	4.6	4.6	0.57074	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.96719	0.8929	H	0.94423	3.535	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.97735	1.0205	10	0.72032	D	0.01	.	17.9471	0.89042	0.0:1.0:0.0:0.0	.	1137	P14410	SUIS_HUMAN	N	1137	ENSP00000264382:D1137N	ENSP00000264382:D1137N	D	-	1	0	SI	166220098	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	7.078000	0.76821	2.528000	0.85240	0.591000	0.81541	GAC		0.463	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		17	42	0	0	0	1	0	17	42					T	164737404	C	T	164737404	3	4	48	1	0	0	0	0	1	0	0	0	14312	913	32	3	2158	3	SI	3	164737404	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	11672	164737404	33285026	1115	5583										
SI	6476	broad.mit.edu	37	chr3	164739053	164739053	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctccgtcgaatctggatgCcaaaaggattttccttgatt	8	9	2	1	rs121912616	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:164739053C>A	ENST00000264382.3	-	27	3280	c.3218G>T	c.(3217-3219)gGc>gTc	p.G1073V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1073	Sucrase.		G -> D (in CSID). {ECO:0000269|PubMed:16329100}.		carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AATCTGGATGCCAAAAGGATT	0.343										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218	GRCh37	CM060472	SI	M	rs121912616	c.(3217-3219)gGc>gTc		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						166	166	166					3																	164739053		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164739053C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3218G>T	3.37:g.164739053C>A	ENSP00000264382:p.Gly1073Val	HNSCC(35;0.089)	Somatic					p.G1073V	NM_001041.3	NP_001032.2	WXS	Illumina GAIIx	Phase_I	P14410	SUIS_HUMAN			27	3280	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1073		G -> D (in CSID).	Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3218G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243186	0.79912	.	.	ENSG00000090402	ENST00000264382	T	0.47177	0.85	4.64	4.64	0.57946	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	T	0.78509	0.4294	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85949	0.1463	10	0.87932	D	0	.	17.7144	0.88332	0.0:1.0:0.0:0.0	.	1073	P14410	SUIS_HUMAN	V	1073	ENSP00000264382:G1073V	ENSP00000264382:G1073V	G	-	2	0	SI	166221747	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.058000	0.64300	2.414000	0.81942	0.585000	0.79938	GGC		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		34	63	1	0	8.88839e-20	1	1.21309e-19	34	63					A	164739053	C	A	164739053	3	1	48	1	0	0	0	0	1	0	0	0	14312	739	26	5	2353	5	SI	3	164739053	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1649	164739053	33283377	1116	5584										
SI	6476	broad.mit.edu	37	chr3	164793787	164793787	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agatttccaatccactaaatTtctttcttgccatctaaaaa	2	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:164793787T>G	ENST00000264382.3	-	2	76	c.14A>C	c.(13-15)aAa>aCa	p.K5T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	5					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)	TCCACTAAATTTCTTTCTTGC	0.269										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.(13-15)aAa>aCa		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						43	44	43					3																	164793787		2203	4293	6496	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.chr3:164793787T>G	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.14A>C	3.37:g.164793787T>G	ENSP00000264382:p.Lys5Thr	HNSCC(35;0.089)	Somatic					p.K5T	NM_001041.3	NP_001032.2	WXS	Illumina GAIIx	Phase_I	P14410	SUIS_HUMAN			2	76	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	5					A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.14A>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820376	0.50633	.	.	ENSG00000090402	ENST00000264382	D	0.90504	-2.68	5.68	5.68	0.88126	.	0.175893	0.49305	D	0.000153	D	0.94604	0.8261	M	0.81341	2.54	0.39320	D	0.965237	D	0.76494	0.999	D	0.66196	0.942	D	0.95454	0.8537	10	0.72032	D	0.01	.	12.3272	0.55018	0.0:0.0:0.0:1.0	.	5	P14410	SUIS_HUMAN	T	5	ENSP00000264382:K5T	ENSP00000264382:K5T	K	-	2	0	SI	166276481	1.000000	0.71417	0.543000	0.28128	0.951000	0.60555	4.656000	0.61483	2.182000	0.69389	0.533000	0.62120	AAA		0.269	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		23	23	0	0	0	1	0	23	23					G	164793787	T	G	164793787	3	3	48	1	0	0	0	0	1	0	0	0	14312	1841	64	4	5657	4	SI	3	164793787	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	54734	164793787	33228643	1117	5585										
SLITRK3	22865	broad.mit.edu	37	chr3	164907717	164907717	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggccatgcattctccttaCttgatgacgaatgtggaatt	9	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:164907717C>A	ENST00000475390.1	-	2	1345	c.902G>T	c.(901-903)aGt>aTt	p.S301I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S301I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	301					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						ATTCTCCTTACTTGATGACGA	0.438										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.(901-903)aGt>aTt		SLIT and NTRK-like family, member 3							125	128	127					3																	164907717		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907717C>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.902G>T	3.37:g.164907717C>A	ENSP00000420091:p.Ser301Ile	HNSCC(40;0.11)	Somatic				SLITRK3_ENST00000241274.3_Missense_Mutation_p.S301I	p.S301I			WXS	Illumina GAIIx	Phase_I	O94933	SLIK3_HUMAN			2	1345	-			301					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.902G>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	2.500	-0.315364	0.05422	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.44083	0.93;0.93	5.75	0.373	0.16178	.	0.182609	0.26820	N	0.022339	T	0.31827	0.0809	L	0.49350	1.555	0.40116	D	0.97654	B	0.32693	0.38	B	0.31191	0.125	T	0.06679	-1.0813	10	0.28530	T	0.3	-2.3861	9.8478	0.41037	0.0:0.6328:0.0:0.3672	.	301	O94933	SLIK3_HUMAN	I	301	ENSP00000420091:S301I;ENSP00000241274:S301I	ENSP00000241274:S301I	S	-	2	0	SLITRK3	166390411	0.998000	0.40836	0.660000	0.29694	0.204000	0.24138	0.661000	0.25023	-0.228000	0.09869	0.655000	0.94253	AGT		0.438	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		37	65	1	0	3.6622e-26	1	5.17531e-26	37	65					A	164907717	C	A	164907717	3	1	48	1	0	0	0	0	1	0	0	0	14759	565	20	5	2035	5	SLITRK3	3	164907717	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	113930	164907717	33114713	1118	5586										
BCHE	590	broad.mit.edu	37	chr3	165547360	165547360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggatctactcaaaatttcctCggcttttgtgtaattatctc	6	9	3	0	rs200998515		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:165547360C>T	ENST00000264381.3	-	2	1628	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	488			E -> K (in BChE deficiency). {ECO:0000269|PubMed:12881446}.		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)	AAAATTTCCTCGGCTTTTGTG	0.403																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55	GRCh37	CM034212	BCHE	M		c.(1462-1464)Gag>Aag		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)						79	85	83					3																	165547360		2203	4299	6502	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.chr3:165547360C>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1462G>A	3.37:g.165547360C>T	ENSP00000264381:p.Glu488Lys		Somatic				BCHE_ENST00000540653.1_Intron	p.E488K	NM_000055.2	NP_000046.1	WXS	Illumina GAIIx	Phase_I	P06276	CHLE_HUMAN			2	1628	-			488		E -> K (in BChE deficiency).			A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1462G>A	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852801	0.71719	.	.	ENSG00000114200	ENST00000264381	D	0.96300	-3.97	5.52	5.52	0.82312	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.98670	0.9554	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99632	1.0986	10	0.87932	D	0	.	18.4281	0.90615	0.0:1.0:0.0:0.0	.	488	P06276	CHLE_HUMAN	K	488	ENSP00000264381:E488K	ENSP00000264381:E488K	E	-	1	0	BCHE	167030054	1.000000	0.71417	0.980000	0.43619	0.544000	0.35116	7.354000	0.79424	2.605000	0.88082	0.591000	0.81541	GAG		0.403	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			27	43	0	0	0	1	0	27	43					T	165547360	C	T	165547360	3	4	48	1	0	0	0	0	1	0	0	0	1358	893	31	1	358	1	BCHE	3	165547360	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	639643	165547360	32475070	1119	5587										
ZBBX	79740	broad.mit.edu	37	chr3	166958694	166958694	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaagactgaattttggtatCtcttccagaacagctgaaaa	7	8	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:166958694C>A	ENST00000392766.2	-	21	2630	c.2290G>T	c.(2290-2292)Gat>Tat	p.D764Y	ZBBX_ENST00000455345.2_Missense_Mutation_p.D803Y|ZBBX_ENST00000392764.1_Missense_Mutation_p.D735Y|ZBBX_ENST00000307529.5_Missense_Mutation_p.D803Y|ZBBX_ENST00000392767.2_Missense_Mutation_p.D764Y	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	764						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.D803N(1)|p.D764N(1)		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						ATTTTGGTATCTCTTCCAGAA	0.383																																						ENST00000392766.2																			2	Substitution - Missense(2)	p.D803N(1)|p.D764N(1)	lung(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.(2290-2292)Gat>Tat		zinc finger, B-box domain containing							130	119	122					3																	166958694		1902	4125	6027	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:166958694C>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.2290G>T	3.37:g.166958694C>A	ENSP00000376519:p.Asp764Tyr		Somatic				ZBBX_ENST00000455345.2_Missense_Mutation_p.D803Y|ZBBX_ENST00000392767.2_Missense_Mutation_p.D764Y|ZBBX_ENST00000307529.5_Missense_Mutation_p.D803Y|ZBBX_ENST00000392764.1_Missense_Mutation_p.D735Y	p.D764Y	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	WXS	Illumina GAIIx	Phase_I	A8MT70	ZBBX_HUMAN			21	2630	-			764					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.2290G>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923904	0.34002	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.21	3.35	0.38373	.	0.365259	0.23342	N	0.049226	T	0.38108	0.1028	L	0.40543	1.245	0.26129	N	0.980446	P;P	0.37330	0.492;0.59	B;B	0.33846	0.171;0.118	T	0.36817	-0.9732	10	0.87932	D	0	-6.8792	5.8984	0.18951	0.1896:0.712:0.0:0.0983	.	803;764	A8MT70-2;A8MT70	.;ZBBX_HUMAN	Y	764;764;803;803;735	ENSP00000376519:D764Y;ENSP00000376520:D764Y;ENSP00000390232:D803Y;ENSP00000305065:D803Y;ENSP00000376517:D735Y	ENSP00000305065:D803Y	D	-	1	0	ZBBX	168441388	1.000000	0.71417	0.987000	0.45799	0.255000	0.26057	1.129000	0.31381	0.831000	0.34780	0.557000	0.71058	GAT		0.383	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		18	39	1	0	4.35082e-09	1	5.20082e-09	18	39					A	166958694	C	A	166958694	3	1	48	1	0	0	0	0	1	0	0	0	17531	913	32	2	116	2	ZBBX	3	166958694	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1411334	166958694	31063736	1120	5588										
ZBBX	79740	broad.mit.edu	37	chr3	167016237	167016237	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttacttctgcaggctatttCttgtaacaactaagaaacaa	5	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:167016237C>A	ENST00000392766.2	-	18	2075	c.1735G>T	c.(1735-1737)Gaa>Taa	p.E579*	ZBBX_ENST00000455345.2_Nonsense_Mutation_p.E579*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.E550*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.E579*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.E579*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	579						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Q578fs*1(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						CAGGCTATTTCTTGTAACAAC	0.289																																						ENST00000392766.2																			2	Deletion - Frameshift(2)	p.Q578fs*1(2)	ovary(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.(1735-1737)Gaa>Taa		zinc finger, B-box domain containing							111	111	111					3																	167016237		1809	4063	5872	SO:0001587	stop_gained	79740					intracellular	zinc ion binding	g.chr3:167016237C>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.1735G>T	3.37:g.167016237C>A	ENSP00000376519:p.Glu579*		Somatic				ZBBX_ENST00000455345.2_Nonsense_Mutation_p.E579*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.E579*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.E579*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.E550*	p.E579*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	WXS	Illumina GAIIx	Phase_I	A8MT70	ZBBX_HUMAN			18	2075	-			579					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Nonsense_Mutation	SNP	ENST00000392766.2	37	c.1735G>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	38	6.670369	0.97751	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	.	.	.	4.9	3.03	0.35002	.	0.660669	0.15282	N	0.270613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-8.1564	7.4526	0.27248	0.0:0.7787:0.0:0.2213	.	.	.	.	X	579;579;579;579;550	.	ENSP00000305065:E579X	E	-	1	0	ZBBX	168498931	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	0.992000	0.29667	1.150000	0.42419	0.591000	0.81541	GAA		0.289	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		20	47	1	0	5.26018e-13	1	6.70247e-13	20	47					A	167016237	C	A	167016237	4	1	48	1	0	0	0	0	0	1	0	0	17531	922	32	2	683	2	ZBBX	3	167016237	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	57543	167016237	31006193	1121	5589										
SERPINI2	5276	broad.mit.edu	37	chr3	167185068	167185068	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgacttcagtacaaaaaattCttcccctagaaaataatttt	3	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:167185068C>A	ENST00000476257.1	-	4	551	c.253G>T	c.(253-255)Gaa>Taa	p.E85*	SERPINI2_ENST00000461846.1_Nonsense_Mutation_p.E85*|SERPINI2_ENST00000471111.1_Nonsense_Mutation_p.E85*|SERPINI2_ENST00000465031.1_5'Flank|SERPINI2_ENST00000264677.4_Nonsense_Mutation_p.E85*			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	85					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACAAAAAATTCTTCCCCTAGA	0.328																																						ENST00000476257.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(253-255)Gaa>Taa		serpin peptidase inhibitor, clade I (pancpin), member 2							48	51	50					3																	167185068		2183	4290	6473	SO:0001587	stop_gained	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167185068C>A	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"Serine (or cysteine) peptidase inhibitors"	8945	protein-coding gene	gene with protein product		605587	"serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2", "serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.253G>T	3.37:g.167185068C>A	ENSP00000420621:p.Glu85*		Somatic				SERPINI2_ENST00000264677.4_Nonsense_Mutation_p.E85*|SERPINI2_ENST00000471111.1_Nonsense_Mutation_p.E85*|SERPINI2_ENST00000461846.1_Nonsense_Mutation_p.E85*	p.E85*			WXS	Illumina GAIIx	Phase_I	O75830	SPI2_HUMAN			4	551	-			85						Nonsense_Mutation	SNP	ENST00000476257.1	37	c.253G>T	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333828	0.81801	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903	.	.	.	5.41	5.41	0.78517	.	0.052461	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.2063	0.93732	0.0:1.0:0.0:0.0	.	.	.	.	X	85	.	ENSP00000264677:E85X	E	-	1	0	SERPINI2	168667762	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	5.313000	0.65798	2.556000	0.86216	0.655000	0.94253	GAA		0.328	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		7	18	1	0	0.00198382	1	0.00207034	7	18					A	167185068	C	A	167185068	4	1	48	1	0	0	0	0	0	1	0	0	14134	922	32	2	992	2	SERPINI2	3	167185068	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	168831	167185068	30837362	1122	5590										
PDCD10	11235	broad.mit.edu	37	chr3	167414852	167414852	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccgtgaagttaacttccacGctttttttctctaaaatttt	4	9	1	1	rs201316215	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:167414852G>A	ENST00000392750.2	-	5	630	c.213C>T	c.(211-213)agC>agT	p.S71S	PDCD10_ENST00000470131.1_Silent_p.S71S|PDCD10_ENST00000473645.2_Silent_p.S71S|PDCD10_ENST00000471885.1_Silent_p.S71S|PDCD10_ENST00000497056.2_Silent_p.S71S|PDCD10_ENST00000461494.1_Silent_p.S71S|PDCD10_ENST00000487947.2_Silent_p.S71S|PDCD10_ENST00000492396.1_Silent_p.S8S	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	71					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TAACTTCCACGCTTTTTTTCT	0.333													G|||	2	0.000399361	0	0	5008	,	,		16554	0.002		0	False		,,,				2504	0					ENST00000392750.2																			0				central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						c.(211-213)agC>agT		programmed cell death 10							110	115	113					3																	167414852		2203	4300	6503	SO:0001819	synonymous_variant	11235				angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding	g.chr3:167414852G>A	AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"cerebral cavernous malformations 3"	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.213C>T	3.37:g.167414852G>A			Somatic				PDCD10_ENST00000461494.1_Silent_p.S71S|PDCD10_ENST00000497056.2_Silent_p.S71S|PDCD10_ENST00000473645.2_Silent_p.S71S|PDCD10_ENST00000492396.1_Silent_p.S8S|PDCD10_ENST00000470131.1_Silent_p.S71S|PDCD10_ENST00000487947.2_Silent_p.S71S|PDCD10_ENST00000471885.1_Silent_p.S71S	p.S71S	NM_007217.3	NP_009148.2	WXS	Illumina GAIIx	Phase_I	Q9BUL8	PDC10_HUMAN			5	630	-			71					A8K515|D3DNN5|O14811	Silent	SNP	ENST00000392750.2	37	c.213C>T	CCDS3202.1	.	.	.	.	.	.	.	.	.	.	G	9.754	1.168157	0.21621	.	.	ENSG00000114209	ENST00000479121	.	.	.	5.9	-0.75	0.11080	.	.	.	.	.	T	0.58119	0.2100	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54603	-0.8269	4	.	.	.	0.1042	11.4327	0.50050	0.6014:0.0:0.3986:0.0	.	.	.	.	C	52	.	.	R	-	1	0	PDCD10	168897546	1.000000	0.71417	0.998000	0.56505	0.869000	0.49853	0.946000	0.29069	-0.075000	0.12798	-0.961000	0.02630	CGT		0.333	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350966.2	NM_007217		20	31	0	0	0	1	0	20	31					A	167414852	G	A	167414852	2	1	48	1	0	0	0	0	0	0	0	1	11625	1078	38	1		1	PDCD10	3	167414852	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	229784	167414852	30607578	1123	5591										
FNDC3B	64778	broad.mit.edu	37	chr3	171830294	171830294	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acgtcacaatgatgatgaccGaccaaatccctctggaactg	8	12	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:171830294G>A	ENST00000336824.4	+	2	124	c.25G>A	c.(25-27)Gac>Aac	p.D9N	FNDC3B_ENST00000421757.1_Missense_Mutation_p.D9N|FNDC3B_ENST00000415807.2_Missense_Mutation_p.D9N|FNDC3B_ENST00000416957.1_Missense_Mutation_p.D9N|FNDC3B_ENST00000423424.1_Missense_Mutation_p.D9N|FNDC3B_ENST00000392699.1_Missense_Mutation_p.D9N	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	9					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)		GATGATGACCGACCAAATCCC	0.493																																						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.(25-27)Gac>Aac		fibronectin type III domain containing 3B							161	137	145					3																	171830294		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:171830294G>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.25G>A	3.37:g.171830294G>A	ENSP00000338523:p.Asp9Asn		Somatic				FNDC3B_ENST00000392699.1_Missense_Mutation_p.D9N|FNDC3B_ENST00000415807.2_Missense_Mutation_p.D9N|FNDC3B_ENST00000421757.1_Missense_Mutation_p.D9N|FNDC3B_ENST00000423424.1_Missense_Mutation_p.D9N|FNDC3B_ENST00000416957.1_Missense_Mutation_p.D9N	p.D9N	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)	2	124	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		9					B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.25G>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	35	5.589918	0.96590	.	.	ENSG00000075420	ENST00000421757;ENST00000415807;ENST00000392699;ENST00000336824;ENST00000423424;ENST00000416957	T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	P	0.59889	0.865	T	0.50215	-0.8854	10	0.66056	D	0.02	-23.4665	19.5832	0.95478	0.0:0.0:1.0:0.0	.	9	Q53EP0	FND3B_HUMAN	N	9	ENSP00000408496:D9N;ENSP00000411242:D9N;ENSP00000376463:D9N;ENSP00000338523:D9N;ENSP00000392471:D9N;ENSP00000389094:D9N	ENSP00000338523:D9N	D	+	1	0	FNDC3B	173312988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.625000	0.88918	0.561000	0.74099	GAC		0.493	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		17	36	0	0	0	1	0	17	36					A	171830294	G	A	171830294	3	1	48	1	0	0	0	0	1	0	0	0	5978	1058	37	1	27	1	FNDC3B	3	171830294	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4415442	171830294	26192136	1124	5592										
TBL1XR1	79718	broad.mit.edu	37	chr3	176769356	176769356	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctccattttttgcagatccTtgttggctggctgcagctgc	10	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:176769356T>G	ENST00000430069.1	-	5	622	c.363A>C	c.(361-363)caA>caC	p.Q121H	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.Q121H			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	121					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)			TTGCAGATCCTTGTTGGCTGG	0.448																																						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.(361-363)caA>caC		transducin (beta)-like 1 X-linked receptor 1							78	75	76					3																	176769356		1849	4094	5943	SO:0001583	missense	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.chr3:176769356T>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.363A>C	3.37:g.176769356T>G	ENSP00000405574:p.Gln121His		Somatic				TBL1XR1_ENST00000457928.2_Missense_Mutation_p.Q121H	p.Q121H			WXS	Illumina GAIIx	Phase_I	Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		5	622	-	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)	121					D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	c.363A>C	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.049698	0.36181	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758;ENST00000428970;ENST00000424913;ENST00000352800;ENST00000437738;ENST00000431421	T;T	0.52983	0.64;0.64	5.52	-4.9	0.03094	.	0.283344	0.35772	N	0.002995	T	0.37652	0.1011	L	0.44542	1.39	0.42879	D	0.99416	P	0.39131	0.661	B	0.40534	0.332	T	0.29243	-1.0018	10	0.40728	T	0.16	-2.3662	15.2079	0.73195	0.0:0.5979:0.0:0.4021	.	121	Q9BZK7	TBL1R_HUMAN	H	121;121;34;34;34;121;121;34	ENSP00000405574:Q121H;ENSP00000413251:Q121H	ENSP00000263964:Q121H	Q	-	3	2	TBL1XR1	178252050	0.563000	0.26594	0.840000	0.33206	0.558000	0.35554	-0.001000	0.12947	-0.776000	0.04578	-0.479000	0.04858	CAA		0.448	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		30	53	0	0	0	1	0	30	53					G	176769356	T	G	176769356	3	3	48	1	0	0	0	0	1	0	0	0	15655	1606	56	4	1229	4	TBL1XR1	3	176769356	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	4939062	176769356	21253074	1125	5593										
ZMAT3	64393	broad.mit.edu	37	chr3	178742906	178742906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgccggaattccatctcttCgccagctccaacattacaca	5	16	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:178742906C>T	ENST00000311417.2	-	6	1510	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	ZMAT3_ENST00000432729.1_Missense_Mutation_p.E256K	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3											breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			TCCATCTCTTCGCCAGCTCCA	0.478																																						ENST00000311417.2																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14						c.(769-771)Gaa>Aaa		zinc finger, matrin-type 3							157	140	146					3																	178742906		2203	4300	6503	SO:0001583	missense	64393				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	g.chr3:178742906C>T	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"Zinc fingers, matrin-type"	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.769G>A	3.37:g.178742906C>T	ENSP00000311221:p.Glu257Lys		Somatic				ZMAT3_ENST00000432729.1_Missense_Mutation_p.E256K	p.E257K	NM_022470.3	NP_071915.1	WXS	Illumina GAIIx	Phase_I	Q9HA38	ZMAT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		6	1510	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		257						Missense_Mutation	SNP	ENST00000311417.2	37	c.769G>A	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184285	0.57800	.	.	ENSG00000172667	ENST00000311417;ENST00000432729	T;T	0.45276	0.9;0.9	5.36	5.36	0.76844	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);Zinc finger, U1-type (1);	0.055201	0.64402	D	0.000001	T	0.43942	0.1270	N	0.22421	0.69	0.58432	D	0.999997	D;D	0.61697	0.987;0.99	P;P	0.52031	0.561;0.688	T	0.38436	-0.9661	10	0.48119	T	0.1	-11.7374	19.0927	0.93233	0.0:1.0:0.0:0.0	.	256;257	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	K	257;256	ENSP00000311221:E257K;ENSP00000396506:E256K	ENSP00000311221:E257K	E	-	1	0	ZMAT3	180225600	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	5.922000	0.70036	2.510000	0.84645	0.650000	0.86243	GAA		0.478	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		30	65	0	0	0	1	0	30	65					T	178742906	C	T	178742906	3	4	48	1	0	0	0	0	1	0	0	0	17708	893	31	1	104	1	ZMAT3	3	178742906	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1973550	178742906	19279524	1126	5594										
PIK3CA	5290	broad.mit.edu	37	chr3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attttttgatgaaacaagacGactttgtgaccttcggcttt	8	7	0	4	rs121913287		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> Q (in MCAP; also found in a glioblastoma multiforme sample; may disrupt the interaction between the PI3K- ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). {ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R88Q(53)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		53	Substitution - Missense(53)	p.R88Q(53)	endometrium(27)|large_intestine(13)|central_nervous_system(8)|cervix(3)|soft_tissue(1)|breast(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(262-264)cGa>cAa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							107	102	104					3																	178916876		1821	4078	5899	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916876G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.263G>A	3.37:g.178916876G>A	ENSP00000263967:p.Arg88Gln	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.R88Q	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)		2	420	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		88		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.263G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971870	0.92919	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.80033	-1.33;-1.33	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.88404	0.3017	9	.	.	.	-14.8194	19.2635	0.93977	0.0:0.0:1.0:0.0	.	88	P42336	PK3CA_HUMAN	Q	88	ENSP00000263967:R88Q;ENSP00000417479:R88Q	.	R	+	2	0	PIK3CA	180399570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	CGA		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			30	46	0	0	0	1	0	30	46					A	178916876	G	A	178916876	3	1	48	1	0	0	0	0	1	0	0	0	11922	1058	37	1	265	1	PIK3CA	3	178916876	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	173970	178916876	19105554	1127	5595										
PIK3CA	5290	broad.mit.edu	37	chr3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aattgaaccagtaggcaaccGtgaagaaaagatcctcaatc	8	9	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:178916936G>A	ENST00000263967.3	+	2	480	c.323G>A	c.(322-324)cGt>cAt	p.R108H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	108					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTAGGCAACCGTGAAGAAAAG	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		19	Substitution - Missense(14)|Deletion - In frame(5)	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)	endometrium(7)|large_intestine(5)|lung(4)|breast(2)|central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(322-324)cGt>cAt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							87	82	84					3																	178916936		1822	4071	5893	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916936G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.323G>A	3.37:g.178916936G>A	ENSP00000263967:p.Arg108His	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.R108H	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)		2	480	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		108			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.323G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677294	0.88445	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74209	0.8;-0.82	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.84808	0.5554	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.83714	0.0189	9	.	.	.	-11.9048	19.4271	0.94746	0.0:0.0:1.0:0.0	.	108	P42336	PK3CA_HUMAN	H	108	ENSP00000263967:R108H;ENSP00000417479:R108H	.	R	+	2	0	PIK3CA	180399630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.630000	0.83225	2.584000	0.87258	0.555000	0.69702	CGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			20	41	0	0	0	1	0	20	41					A	178916936	G	A	178916936	3	1	48	1	0	0	0	0	1	0	0	0	11922	1145	40	1	325	1	PIK3CA	3	178916936	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	60	178916936	19105494	1128	5596										
KCNMB3	27094	broad.mit.edu	37	chr3	178968869	178968869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caacaaaatgaaatcccagtTcagagcttggtgaaaagtcc	8	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:178968869T>C	ENST00000314235.5	-	1	534	c.23A>G	c.(22-24)gAa>gGa	p.E8G	KCNMB3_ENST00000497599.1_Intron|KCNMB3_ENST00000392685.2_5'UTR|KCNMB3_ENST00000485523.1_Intron|KCNMB3_ENST00000349697.2_Intron	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	8					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		Miconazole(DB01110)|Procaine(DB00721)	AAATCCCAGTTCAGAGCTTGG	0.403																																						ENST00000314235.5																			0				NS(1)|large_intestine(1)|lung(2)|stomach(1)	5						c.(22-24)gAa>gGa		potassium large conductance calcium-activated channel, subfamily M beta member 3							133	129	130					3																	178968869		2203	4300	6503	SO:0001583	missense	27094				detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity	g.chr3:178968869T>C	AF139471	CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1	3q26.3-q27	2010-09-30			ENSG00000171121	ENSG00000171121		"Potassium channels"	6287	protein-coding gene	gene with protein product		605222		KCNMB2, KCNMBL		10585773	Standard	NM_001163677		Approved		uc003fjm.3	Q9NPA1	OTTHUMG00000157337	ENST00000314235.5:c.23A>G	3.37:g.178968869T>C	ENSP00000319370:p.Glu8Gly		Somatic				KCNMB3_ENST00000497599.1_Intron|KCNMB3_ENST00000392685.2_5'UTR|KCNMB3_ENST00000485523.1_Intron|KCNMB3_ENST00000349697.2_Intron	p.E8G	NM_014407.3	NP_055222.3	WXS	Illumina GAIIx	Phase_I	Q9NPA1	KCMB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		1	534	-	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		8					B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000314235.5	37	c.23A>G	CCDS3226.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.334805	0.24253	.	.	ENSG00000171121	ENST00000314235	T	0.10192	2.9	4.76	0.74	0.18330	.	10.353900	0.00166	N	0.000000	T	0.06600	0.0169	N	0.08118	0	0.09310	N	0.999998	B	0.30793	0.295	B	0.27608	0.081	T	0.29671	-1.0004	10	0.87932	D	0	-6.6501	5.1856	0.15182	0.0:0.0955:0.355:0.5495	.	8	Q9NPA1	KCMB3_HUMAN	G	8	ENSP00000319370:E8G	ENSP00000319370:E8G	E	-	2	0	KCNMB3	180451563	0.680000	0.27605	0.001000	0.08648	0.014000	0.08584	0.753000	0.26376	0.044000	0.15775	0.459000	0.35465	GAA		0.403	KCNMB3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348484.1			23	43	0	0	0	1	0	23	43					C	178968869	T	C	178968869	3	2	48	1	0	0	0	0	1	0	0	0	8085	1783	62	4	961	4	KCNMB3	3	178968869	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	51933	178968869	19053561	1129	5597										
ZNF639	51193	broad.mit.edu	37	chr3	179051980	179051980	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtttgtgatgactgtgggAaaggcttttcaagtatgcta	12	4	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:179051980A>G	ENST00000326361.3	+	7	1673	c.1228A>G	c.(1228-1230)Aaa>Gaa	p.K410E	ZNF639_ENST00000484866.1_Missense_Mutation_p.K410E|ZNF639_ENST00000496856.1_Missense_Mutation_p.K410E	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	410	Interaction with CTNNA2.				negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGACTGTGGGAAAGGCTTTTC	0.323																																						ENST00000326361.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16						c.(1228-1230)Aaa>Gaa		zinc finger protein 639							95	99	98					3																	179051980		2203	4300	6503	SO:0001583	missense	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179051980A>G	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"Zinc fingers, C2H2-type"	30950	protein-coding gene	gene with protein product	"zinc finger amplified in esophageal squamous cell carcinomas 1"					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.1228A>G	3.37:g.179051980A>G	ENSP00000325634:p.Lys410Glu		Somatic				ZNF639_ENST00000496856.1_Missense_Mutation_p.K410E|ZNF639_ENST00000484866.1_Missense_Mutation_p.K410E	p.K410E	NM_016331.1	NP_057415.1	WXS	Illumina GAIIx	Phase_I	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		7	1673	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		410			Interaction with CTNNA2.		A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	c.1228A>G	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.486289	0.44147	.	.	ENSG00000121864	ENST00000496856;ENST00000326361;ENST00000484866	T;T;T	0.27104	1.69;1.69;1.69	5.78	5.78	0.91487	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.50086	0.1595	M	0.76002	2.32	0.36500	D	0.86892	D	0.65815	0.995	D	0.64410	0.925	T	0.57711	-0.7764	10	0.41790	T	0.15	.	16.3971	0.83610	1.0:0.0:0.0:0.0	.	410	Q9UID6	ZN639_HUMAN	E	410	ENSP00000417740:K410E;ENSP00000325634:K410E;ENSP00000418766:K410E	ENSP00000325634:K410E	K	+	1	0	ZNF639	180534674	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.664000	0.61540	2.330000	0.79161	0.533000	0.62120	AAA		0.323	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		7	85	0	0	0	1	0	7	85					G	179051980	A	G	179051980	3	3	48	1	0	0	0	0	1	0	0	0	18071	247	9	4	1242	4	ZNF639	3	179051980	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	83111	179051980	18970450	1130	5598										
ACTL6A	86	broad.mit.edu	37	chr3	179294470	179294470	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtgcagagaactcttccaaGaaatgaatattgaattggtt	9	5	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:179294470G>T	ENST00000429709.2	+	7	847	c.634G>T	c.(634-636)Gaa>Taa	p.E212*	ACTL6A_ENST00000450518.2_Nonsense_Mutation_p.E170*|ACTL6A_ENST00000467615.1_3'UTR|ACTL6A_ENST00000392662.1_Nonsense_Mutation_p.E170*	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	212					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			ACTCTTCCAAGAAATGAATAT	0.378																																						ENST00000429709.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21						c.(634-636)Gaa>Taa		actin-like 6A							140	147	145					3																	179294470		2203	4300	6503	SO:0001587	stop_gained	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179294470G>T	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"INO80 complex subunits"	24124	protein-coding gene	gene with protein product	"BAF complex 53 kDa subunit", "BRG1-associated factor", "actin-related protein 4", "INO80 complex subunit K"	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.634G>T	3.37:g.179294470G>T	ENSP00000397552:p.Glu212*		Somatic				ACTL6A_ENST00000450518.2_Nonsense_Mutation_p.E170*|ACTL6A_ENST00000467615.1_3'UTR|ACTL6A_ENST00000392662.1_Nonsense_Mutation_p.E170*	p.E212*	NM_004301.3	NP_004292.1	WXS	Illumina GAIIx	Phase_I	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		7	847	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		212					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Nonsense_Mutation	SNP	ENST00000429709.2	37	c.634G>T	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	39	7.880643	0.98539	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	.	.	.	5.39	5.39	0.77823	.	0.045645	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.1549	0.93506	0.0:0.0:1.0:0.0	.	.	.	.	X	212;170;170	.	ENSP00000376430:E170X	E	+	1	0	ACTL6A	180777164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.517000	0.84864	0.650000	0.86243	GAA		0.378	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		22	56	1	0	7.45023e-12	1	9.31775e-12	22	56					T	179294470	G	T	179294470	4	4	48	1	0	0	0	0	0	1	0	0	198	943	33	2	660	2	ACTL6A	3	179294470	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	242490	179294470	18727960	1131	5599										
USP13	8975	broad.mit.edu	37	chr3	179426653	179426653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggaaagtggttctttgacaGctctgggggcaacgggcatg	16	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:179426653G>A	ENST00000263966.3	+	6	1184	c.713G>A	c.(712-714)aGc>aAc	p.S238N	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.S173N	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	238					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTCTTTGACAGCTCTGGGGGC	0.562																																						ENST00000263966.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46						c.(712-714)aGc>aAc		ubiquitin specific peptidase 13 (isopeptidase T-3)							158	140	146					3																	179426653		2203	4300	6503	SO:0001583	missense	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179426653G>A	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.713G>A	3.37:g.179426653G>A	ENSP00000263966:p.Ser238Asn		Somatic				USP13_ENST00000496897.1_Missense_Mutation_p.S173N|USP13_ENST00000482333.1_3'UTR	p.S238N	NM_003940.2	NP_003931.2	WXS	Illumina GAIIx	Phase_I	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		6	1184	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		238					A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.713G>A	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695054	0.68386	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.29917	1.55;1.55	5.83	4.78	0.61160	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (3);	0.091849	0.85682	D	0.000000	T	0.26629	0.0651	L	0.34521	1.04	0.40319	D	0.978809	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07443	-1.0772	10	0.72032	D	0.01	-21.1454	15.8222	0.78662	0.0753:0.0:0.9247:0.0	.	238;238	Q92995;A8K2S3	UBP13_HUMAN;.	N	238;173	ENSP00000263966:S238N;ENSP00000417146:S173N	ENSP00000263966:S238N	S	+	2	0	USP13	180909347	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.598000	0.82745	2.755000	0.94549	0.650000	0.86243	AGC		0.562	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			4	104	0	0	0	1	0	4	104					A	179426653	G	A	179426653	3	1	48	1	0	0	0	0	1	0	0	0	17059	971	34	3	735	3	USP13	3	179426653	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	132183	179426653	18595777	1132	5600										
TTC14	151613	broad.mit.edu	37	chr3	180324343	180324343	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaaaactgtccaactcacaGaaatgcaagaaaatacctct	5	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:180324343G>T	ENST00000296015.4	+	9	1256	c.1124G>T	c.(1123-1125)aGa>aTa	p.R375I	TTC14_ENST00000382584.4_Missense_Mutation_p.R375I|TTC14_ENST00000412756.2_Missense_Mutation_p.R375I	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	375							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CCAACTCACAGAAATGCAAGA	0.378																																						ENST00000412756.2																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(1123-1125)aGa>aTa		tetratricopeptide repeat domain 14							119	126	124					3																	180324343		2203	4300	6503	SO:0001583	missense	151613						RNA binding	g.chr3:180324343G>T	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"Tetratricopeptide (TTC) repeat domain containing"	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1124G>T	3.37:g.180324343G>T	ENSP00000296015:p.Arg375Ile		Somatic				TTC14_ENST00000296015.4_Missense_Mutation_p.R375I|TTC14_ENST00000382584.4_Missense_Mutation_p.R375I	p.R375I	NM_001042601.2	NP_001036066.1	WXS	Illumina GAIIx	Phase_I	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		9	1193	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		375					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.1124G>T	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372418	0.95923	.	.	ENSG00000163728	ENST00000296015;ENST00000412756;ENST00000382584	T;T	0.48201	0.82;0.83	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.70535	0.3235	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	0.994;0.999;1.0	P;D;D	0.87578	0.897;0.965;0.998	T	0.70033	-0.4983	10	0.59425	D	0.04	-13.2245	20.3465	0.98790	0.0:0.0:1.0:0.0	.	375;375;375	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	I	375	ENSP00000296015:R375I;ENSP00000372027:R375I	ENSP00000296015:R375I	R	+	2	0	TTC14	181807037	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.624000	0.98398	2.798000	0.96311	0.655000	0.94253	AGA		0.378	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		38	64	1	0	4.14481e-20	1	5.66236e-20	38	64					T	180324343	G	T	180324343	3	4	48	1	0	0	0	0	1	0	0	0	16696	942	33	2	1158	2	TTC14	3	180324343	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	897690	180324343	17698087	1133	5601										
CCDC39	339829	broad.mit.edu	37	chr3	180334346	180334346	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ataatacggatctcagtattTtcttctatgatatcaactaa	4	7	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:180334346T>C	ENST00000442201.2	-	18	2663	c.2544A>G	c.(2542-2544)gaA>gaG	p.E848E	TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	848					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)			TCTCAGTATTTTCTTCTATGA	0.284																																						ENST00000442201.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(2542-2544)gaA>gaG		coiled-coil domain containing 39							58	54	55					3																	180334346		1826	4067	5893	SO:0001819	synonymous_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180334346T>C	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.2544A>G	3.37:g.180334346T>C			Somatic				CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	p.E848E	NM_181426.1	NP_852091.1	WXS	Illumina GAIIx	Phase_I	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		18	2663	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		848					B4E2H1	Silent	SNP	ENST00000442201.2	37	c.2544A>G	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	T	3.970	-0.008576	0.07727	.	.	ENSG00000145075	ENST00000473854	.	.	.	5.37	2.91	0.33838	.	.	.	.	.	T	0.54367	0.1854	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49051	-0.8979	4	.	.	.	.	5.9531	0.19259	0.0:0.1396:0.1406:0.7198	.	.	.	.	R	32	.	.	K	-	2	0	CCDC39	181817040	1.000000	0.71417	0.973000	0.42090	0.451000	0.32288	0.764000	0.26532	1.026000	0.39733	0.455000	0.32223	AAA		0.284	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		4	14	0	0	0	1	0	4	14					C	180334346	T	C	180334346	2	2	48	1	0	0	0	0	0	0	0	1	2813	1838	64	4		4	CCDC39	3	180334346	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	10003	180334346	17688084	1134	5602										
CCDC39	339829	broad.mit.edu	37	chr3	180334405	180334405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgaaactgtttcatttcacGaagtttgatgtcttgttctt	8	6	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:180334405G>A	ENST00000442201.2	-	18	2604	c.2485C>T	c.(2485-2487)Cgt>Tgt	p.R829C	TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	829					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)			TTCATTTCACGAAGTTTGATG	0.313																																						ENST00000442201.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(2485-2487)Cgt>Tgt		coiled-coil domain containing 39							73	66	68					3																	180334405		1833	4073	5906	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180334405G>A	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2485C>T	3.37:g.180334405G>A	ENSP00000405708:p.Arg829Cys		Somatic				CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	p.R829C	NM_181426.1	NP_852091.1	WXS	Illumina GAIIx	Phase_I	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		18	2604	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		829					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.2485C>T	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486075	0.26686	.	.	ENSG00000145075	ENST00000489868;ENST00000442201	D	0.81739	-1.53	5.24	5.24	0.73138	.	.	.	.	.	D	0.90710	0.7085	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91518	0.5232	9	0.72032	D	0.01	.	19.0176	0.92901	0.0:0.0:1.0:0.0	.	829	Q9UFE4	CCD39_HUMAN	C	1;829	ENSP00000405708:R829C	ENSP00000405708:R829C	R	-	1	0	CCDC39	181817099	1.000000	0.71417	0.991000	0.47740	0.056000	0.15407	4.162000	0.58177	2.718000	0.92993	0.460000	0.39030	CGT		0.313	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		3	5	0	0	0	1	0	3	5					A	180334405	G	A	180334405	3	1	48	1	0	0	0	0	1	0	0	0	2813	1058	37	1	352	1	CCDC39	3	180334405	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	59	180334405	17688025	1135	5603										
ATP11B	23200	broad.mit.edu	37	chr3	182591616	182591616	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagactacaagataaagttCgagaaactattgaagcattg	8	6	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:182591616C>T	ENST00000323116.5	+	19	2325	c.2065C>T	c.(2065-2067)Cga>Tga	p.R689*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	689					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)			AGATAAAGTTCGAGAAACTAT	0.323																																						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.(2065-2067)Cga>Tga		ATPase, class VI, type 11B							88	85	86					3																	182591616		2203	4300	6503	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.chr3:182591616C>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.2065C>T	3.37:g.182591616C>T	ENSP00000321195:p.Arg689*		Somatic					p.R689*	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)		19	2325	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		689					Q96FN1|Q9UKK7	Nonsense_Mutation	SNP	ENST00000323116.5	37	c.2065C>T	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	C	43	10.411343	0.99400	.	.	ENSG00000058063	ENST00000323116	.	.	.	5.78	3.76	0.43208	.	0.125952	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	16.2942	0.82762	0.2521:0.7479:0.0:0.0	.	.	.	.	X	689	.	ENSP00000321195:R689X	R	+	1	2	ATP11B	184074310	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.971000	0.49248	1.389000	0.46526	0.655000	0.94253	CGA		0.323	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		17	30	0	0	0	1	0	17	30					T	182591616	C	T	182591616	4	4	48	1	0	0	0	0	0	1	0	0	1120	876	31	1	2139	1	ATP11B	3	182591616	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2257211	182591616	15430814	1136	5604										
MCF2L2	23101	broad.mit.edu	37	chr3	182925518	182925518	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctctggctgggtttaaatcGaatcaaatccttcattttat	6	9	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:182925518G>A	ENST00000328913.3	-	23	2887	c.2590C>T	c.(2590-2592)Cga>Tga	p.R864*	MCF2L2_ENST00000468976.1_5'Flank|MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.R864*	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	864	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						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)			GGTTTAAATCGAATCAAATCC	0.438																																						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.(2590-2592)Cga>Tga		MCF.2 cell line derived transforming sequence-like 2							142	139	140					3																	182925518		2203	4300	6503	SO:0001587	stop_gained	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182925518G>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.2590C>T	3.37:g.182925518G>A	ENSP00000328118:p.Arg864*		Somatic				MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.R864*	p.R864*	NM_015078.2	NP_055893.2	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)		23	2887	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		864			PH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Nonsense_Mutation	SNP	ENST00000328913.3	37	c.2590C>T	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	41	9.122447	0.99073	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	.	.	.	4.8	2.42	0.29668	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5404	0.39248	0.0:0.0:0.4425:0.5575	.	.	.	.	X	864	.	ENSP00000328118:R864X	R	-	1	2	MCF2L2	184408212	0.980000	0.34600	0.953000	0.39169	0.991000	0.79684	2.196000	0.42686	0.977000	0.38444	0.491000	0.48974	CGA		0.438	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		20	44	0	0	0	1	0	20	44					A	182925518	G	A	182925518	4	1	48	1	0	0	0	0	0	1	0	0	9389	1066	37	1	786	1	MCF2L2	3	182925518	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	333902	182925518	15096912	1137	5605										
KLHL24	54800	broad.mit.edu	37	chr3	183368270	183368270	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtcatgagttttttgacttCtcttcaggatcatcccatgc	8	10	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:183368270C>A	ENST00000454652.2	+	4	512	c.126C>A	c.(124-126)ttC>ttA	p.F42L	KLHL24_ENST00000476808.1_Missense_Mutation_p.F42L|KLHL24_ENST00000242810.6_Missense_Mutation_p.F42L	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	42						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TTTTTGACTTCTCTTCAGGAT	0.408																																						ENST00000454652.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(124-126)ttC>ttA		kelch-like family member 24							99	102	101					3																	183368270		2203	4300	6503	SO:0001583	missense	54800					axon|cytoplasm|perikaryon		g.chr3:183368270C>A		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"Kelch-like", "BTB/POZ domain containing"	25947	protein-coding gene	gene with protein product		611295	"kelch-like 24 (Drosophila)"				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.126C>A	3.37:g.183368270C>A	ENSP00000395012:p.Phe42Leu		Somatic				KLHL24_ENST00000242810.6_Missense_Mutation_p.F42L|KLHL24_ENST00000476808.1_Missense_Mutation_p.F42L	p.F42L			WXS	Illumina GAIIx	Phase_I	Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		4	512	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		42					A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	c.126C>A	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441770	0.63067	.	.	ENSG00000114796	ENST00000242810;ENST00000493074;ENST00000437402;ENST00000454495;ENST00000473045;ENST00000468101;ENST00000427201;ENST00000482138;ENST00000454652;ENST00000468001;ENST00000476808	T;D;T;T;D;T;D;T	0.82255	-0.39;-1.58;-0.44;-0.44;-1.59;-0.39;-1.59;-0.33	5.44	4.38	0.52667	BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	D	0.82416	0.5032	L	0.27053	0.805	0.58432	D	0.999996	D;B	0.67145	0.996;0.404	D;B	0.70935	0.971;0.093	T	0.76340	-0.2995	10	0.11182	T	0.66	.	12.9013	0.58126	0.0:0.8639:0.0:0.1361	.	42;42	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	L	42	ENSP00000242810:F42L;ENSP00000417347:F42L;ENSP00000416836:F42L;ENSP00000408567:F42L;ENSP00000417275:F42L;ENSP00000395012:F42L;ENSP00000418922:F42L;ENSP00000419010:F42L	ENSP00000242810:F42L	F	+	3	2	KLHL24	184850964	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.529000	0.35996	2.560000	0.86352	0.460000	0.39030	TTC		0.408	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		20	54	1	0	1.33834e-09	1	1.61283e-09	20	54					A	183368270	C	A	183368270	3	1	48	1	0	0	0	0	1	0	0	0	8388	912	32	2	128	2	KLHL24	3	183368270	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	442752	183368270	14654160	1138	5606										
YEATS2	55689	broad.mit.edu	37	chr3	183479328	183479328	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtttgcatctatgccacctCtttgcccaattgggagtcac	8	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:183479328C>T	ENST00000305135.5	+	14	1885	c.1690C>T	c.(1690-1692)Ctt>Ttt	p.L564F		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	564					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)			TATGCCACCTCTTTGCCCAAT	0.413																																						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.(1690-1692)Ctt>Ttt		YEATS domain containing 2							167	160	162					3																	183479328		1866	4083	5949	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.chr3:183479328C>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.1690C>T	3.37:g.183479328C>T	ENSP00000306983:p.Leu564Phe		Somatic					p.L564F	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)		14	1885	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		564					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1690C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313344	0.60414	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.30448	1.53	6.03	5.16	0.70880	.	0.314616	0.28431	N	0.015372	T	0.27967	0.0689	L	0.27053	0.805	0.37982	D	0.933633	P	0.49635	0.926	P	0.44597	0.454	T	0.19976	-1.0289	10	0.66056	D	0.02	-22.4639	15.3849	0.74691	0.0:0.9336:0.0:0.0664	.	564	Q9ULM3	YETS2_HUMAN	F	564	ENSP00000306983:L564F	ENSP00000306983:L564F	L	+	1	0	YEATS2	184962022	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	5.647000	0.67923	1.561000	0.49584	0.655000	0.94253	CTT		0.413	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		50	86	0	0	0	1	0	50	86					T	183479328	C	T	183479328	3	4	48	1	0	0	0	0	1	0	0	0	17487	913	32	3	1740	3	YEATS2	3	183479328	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	111058	183479328	14543102	1139	5607										
ECE2	9718	broad.mit.edu	37	chr3	183995240	183995240	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaccaaaaccaggccatacTgaagcacctgcttggtgagt	11	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:183995240T>C	ENST00000402825.3	+	4	818	c.818T>C	c.(817-819)cTg>cCg	p.L273P	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.L201P|ECE2_ENST00000359140.4_Missense_Mutation_p.L126P|ECE2_ENST00000404464.3_Missense_Mutation_p.L155P	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	273	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)			CAGGCCATACTGAAGCACCTG	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.(817-819)cTg>cCg		endothelin converting enzyme 2							40	37	38					3																	183995240		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.chr3:183995240T>C	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.818T>C	3.37:g.183995240T>C	ENSP00000384223:p.Leu273Pro		Somatic				ECE2_ENST00000404464.3_Missense_Mutation_p.L155P|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.L126P|ECE2_ENST00000357474.5_Missense_Mutation_p.L201P	p.L273P	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	818	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		273			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.818T>C	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685440	0.68157	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.97	5.97	0.96955	Peptidase M13 (1);	0.134868	0.51477	D	0.000100	D	0.90758	0.7099	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D;D	0.89917	0.993;0.999;1.0;0.996;0.984;0.993	D;D;D;D;P;D	0.79108	0.956;0.992;0.979;0.945;0.894;0.956	D	0.92200	0.5767	10	0.87932	D	0	-17.6148	15.2744	0.73732	0.0:0.0:0.0:1.0	.	126;201;155;201;126;273	B4DKF3;B7Z1P1;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;ECE2_HUMAN	P	273;126;155;201;147	ENSP00000384223:L273P;ENSP00000352052:L126P;ENSP00000385846:L155P;ENSP00000350066:L201P;ENSP00000398444:L147P	ENSP00000350066:L201P	L	+	2	0	ECE2	185477934	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	8.008000	0.88588	2.288000	0.76882	0.533000	0.62120	CTG		0.602	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		20	33	0	0	0	1	0	20	33					C	183995240	T	C	183995240	3	2	48	1	0	0	0	0	1	0	0	0	4892	1580	55	4	1396	4	ECE2	3	183995240	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	515912	183995240	14027190	1140	5608										
MAGEF1	64110	broad.mit.edu	37	chr3	184428893	184428893	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgcttcggggaccccaagaGaattcatattctggtggatt	11	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:184428893G>T	ENST00000317897.3	-	1	943	c.717C>A	c.(715-717)ttC>ttA	p.F239L		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	239	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			GACCCCAAGAGAATTCATATT	0.507																																						ENST00000317897.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11						c.(715-717)ttC>ttA		melanoma antigen family F, 1							72	79	76					3																	184428893		2203	4300	6503	SO:0001583	missense	64110							g.chr3:184428893G>T	AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.717C>A	3.37:g.184428893G>T	ENSP00000315064:p.Phe239Leu		Somatic					p.F239L	NM_022149.4	NP_071432.2	WXS	Illumina GAIIx	Phase_I	Q9HAY2	MAGF1_HUMAN	Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)		1	943	-	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		239			MAGE.		Q9H215	Missense_Mutation	SNP	ENST00000317897.3	37	c.717C>A	CCDS3269.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738022	0.49045	.	.	ENSG00000177383	ENST00000317897	T	0.05649	3.41	4.49	2.66	0.31614	.	0.000000	0.85682	D	0.000000	T	0.06872	0.0175	L	0.32530	0.975	0.35231	D	0.77691	B	0.34241	0.444	B	0.43018	0.405	T	0.36866	-0.9730	10	0.35671	T	0.21	.	5.5287	0.16972	0.1027:0.0:0.7009:0.1964	.	239	Q9HAY2	MAGF1_HUMAN	L	239	ENSP00000315064:F239L	ENSP00000315064:F239L	F	-	3	2	MAGEF1	185911587	0.866000	0.29940	0.964000	0.40570	0.937000	0.57800	0.805000	0.27112	0.617000	0.30160	-0.188000	0.12872	TTC		0.507	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345417.1	NM_022149		19	45	1	0	6.94344e-10	1	8.4399e-10	19	45					T	184428893	G	T	184428893	3	4	48	1	0	0	0	0	1	0	0	0	9196	933	33	2	210	2	MAGEF1	3	184428893	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	433653	184428893	13593537	1141	5609										
VPS8	23355	broad.mit.edu	37	chr3	184542494	184542494	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagcgaagaagagctgaataAgtctttcaatctagaagctt	10	6	3	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:184542494A>C	ENST00000437079.3	+	2	245	c.74A>C	c.(73-75)aAg>aCg	p.K25T	VPS8_ENST00000446204.2_Missense_Mutation_p.K25T|VPS8_ENST00000424463.2_Missense_Mutation_p.K25T|VPS8_ENST00000287546.4_Missense_Mutation_p.K25T|VPS8_ENST00000436792.2_Missense_Mutation_p.K25T	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	25							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GAGCTGAATAAGTCTTTCAAT	0.358																																						ENST00000437079.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(73-75)aAg>aCg		vacuolar protein sorting 8 homolog (S. cerevisiae)							71	75	74					3																	184542494		1844	4092	5936	SO:0001583	missense	23355						zinc ion binding	g.chr3:184542494A>C	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.74A>C	3.37:g.184542494A>C	ENSP00000397879:p.Lys25Thr		Somatic				VPS8_ENST00000436792.2_Missense_Mutation_p.K25T|VPS8_ENST00000424463.2_Missense_Mutation_p.K25T|VPS8_ENST00000446204.2_Missense_Mutation_p.K25T|VPS8_ENST00000287546.4_Missense_Mutation_p.K25T	p.K25T	NM_001009921.2	NP_001009921.1	WXS	Illumina GAIIx	Phase_I	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		2	245	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		25					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.74A>C	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916365	0.52546	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204;ENST00000422105;ENST00000424463;ENST00000453056;ENST00000441141;ENST00000445089	T;T;T;T;T;T;T;T	0.51817	2.18;2.18;2.18;2.17;0.79;0.7;0.69;0.72	5.79	4.64	0.57946	.	0.108239	0.41605	D	0.000846	T	0.23210	0.0561	N	0.08118	0	0.24609	N	0.993736	B;B;B	0.33238	0.275;0.403;0.275	B;B;B	0.30855	0.121;0.121;0.121	T	0.10200	-1.0640	10	0.23891	T	0.37	-4.9344	7.7502	0.28892	0.9088:0.0:0.0912:0.0	.	25;25;25	Q8N3P4-2;C9JP71;Q8N3P4-3	.;.;.	T	25	ENSP00000287546:K25T;ENSP00000397879:K25T;ENSP00000404704:K25T;ENSP00000405483:K25T;ENSP00000415161:K25T;ENSP00000389480:K25T;ENSP00000409957:K25T;ENSP00000416150:K25T	ENSP00000287546:K25T	K	+	2	0	VPS8	186025188	0.986000	0.35501	1.000000	0.80357	0.855000	0.48748	2.937000	0.48979	2.201000	0.70794	0.533000	0.62120	AAG		0.358	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		8	44	0	0	0	1	0	8	44					C	184542494	A	C	184542494	3	2	48	1	0	0	0	0	1	0	0	0	17233	72	3	4	76	4	VPS8	3	184542494	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	113601	184542494	13479936	1142	5610										
TMEM41A	90407	broad.mit.edu	37	chr3	185214663	185214663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccctgtttgtagaggtaggCgccgcagaagagcaggaaca	15	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:185214663C>T	ENST00000421852.1	-	2	321	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Missense_Mutation_p.A76T	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	76						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TAGAGGTAGGCGCCGCAGAAG	0.587																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(226-228)Gcc>Acc		transmembrane protein 41A							54	53	53					3																	185214663		2203	4300	6503	SO:0001583	missense	90407					integral to membrane		g.chr3:185214663C>T	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.226G>A	3.37:g.185214663C>T	ENSP00000406885:p.Ala76Thr		Somatic				TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Missense_Mutation_p.A76T	p.A76T	NM_080652.3	NP_542383.1	WXS	Illumina GAIIx	Phase_I	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		2	321	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		76					A8K4B3|D3DNU2|Q6ZMJ0	Missense_Mutation	SNP	ENST00000421852.1	37	c.226G>A	CCDS3271.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099667	0.94197	.	.	ENSG00000163900	ENST00000421852;ENST00000296254	.	.	.	5.43	4.56	0.56223	.	0.163293	0.53938	N	0.000054	T	0.77398	0.4124	M	0.79614	2.46	0.80722	D	1	B;D	0.89917	0.141;1.0	B;D	0.69479	0.034;0.964	T	0.78306	-0.2255	9	0.42905	T	0.14	-21.1633	13.9168	0.63902	0.0:0.9266:0.0:0.0733	.	76;76	F8WDE2;Q96HV5	.;TM41A_HUMAN	T	76	.	ENSP00000296254:A76T	A	-	1	0	TMEM41A	186697357	1.000000	0.71417	0.963000	0.40424	0.902000	0.53008	5.875000	0.69660	1.288000	0.44600	0.655000	0.94253	GCC		0.587	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		14	13	0	0	0	1	0	14	13					T	185214663	C	T	185214663	3	4	48	1	0	0	0	0	1	0	0	0	16179	768	27	1	584	1	TMEM41A	3	185214663	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	672169	185214663	12807767	1143	5611										
TRA2B	6434	broad.mit.edu	37	chr3	185643396	185643396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgggtataatgccttcgggaGcttcttctggatctagacct	11	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:185643396G>A	ENST00000453386.2	-	3	464	c.189C>T	c.(187-189)agC>agT	p.S63S	TRA2B_ENST00000382191.4_5'UTR|TRA2B_ENST00000471134.1_5'Flank	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	63	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GCCTTCGGGAGCTTCTTCTGG	0.458																																						ENST00000453386.2																			0				breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						c.(187-189)agC>agT		transformer 2 beta homolog (Drosophila)							96	94	94					3																	185643396		2203	4300	6503	SO:0001819	synonymous_variant	6434				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	g.chr3:185643396G>A	AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"RNA binding motif (RRM) containing"	10781	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 156"	602719	"splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.189C>T	3.37:g.185643396G>A			Somatic				TRA2B_ENST00000382191.4_5'UTR	p.S63S	NM_004593.2	NP_004584.1	WXS	Illumina GAIIx	Phase_I	P62995	TRA2B_HUMAN			3	464	-			63			Arg/Ser-rich (RS1 domain).		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Silent	SNP	ENST00000453386.2	37	c.189C>T	CCDS33905.1																																																																																				0.458	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593		15	31	0	0	0	1	0	15	31					A	185643396	G	A	185643396	2	1	48	1	0	0	0	0	0	0	0	1	16449	962	34	3		3	TRA2B	3	185643396	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	428733	185643396	12379034	1144	5612										
DGKG	1608	broad.mit.edu	37	chr3	186024714	186024714	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgggtcatattgtttgagGctcccaccctcattaaattc	8	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:186024714G>A	ENST00000265022.3	-	3	659	c.120C>T	c.(118-120)agC>agT	p.S40S	DGKG_ENST00000544847.1_Silent_p.S40S|DGKG_ENST00000344484.4_Silent_p.S40S|DGKG_ENST00000382164.4_Silent_p.S40S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	40					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ATTGTTTGAGGCTCCCACCCT	0.383																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(118-120)agC>agT		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						159	157	158					3																	186024714		2203	4300	6503	SO:0001819	synonymous_variant	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:186024714G>A	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.120C>T	3.37:g.186024714G>A			Somatic				DGKG_ENST00000382164.4_Silent_p.S40S|DGKG_ENST00000344484.4_Silent_p.S40S|DGKG_ENST00000544847.1_Silent_p.S40S	p.S40S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	WXS	Illumina GAIIx	Phase_I	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	3	659	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		40					B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	c.120C>T	CCDS3274.1																																																																																				0.383	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			21	28	0	0	0	1	0	21	28					A	186024714	G	A	186024714	2	1	48	1	0	0	0	0	0	0	0	1	4471	1194	42	3		3	DGKG	3	186024714	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	381318	186024714	11997716	1145	5613										
AHSG	197	broad.mit.edu	37	chr3	186331076	186331076	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtggctatagactacatcaAtcaaaaccttccttggggat	9	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:186331076A>C	ENST00000273784.5	+	1	222	c.146A>C	c.(145-147)aAt>aCt	p.N49T	AHSG_ENST00000411641.2_Missense_Mutation_p.N49T	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	49	Cystatin fetuin-A-type 1. {ECO:0000255|PROSITE-ProRule:PRU00861}.				acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			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)		GACTACATCAATCAAAACCTT	0.478																																						ENST00000411641.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22						c.(145-147)aAt>aCt		alpha-2-HS-glycoprotein							84	78	80					3																	186331076		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.chr3:186331076A>C	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.146A>C	3.37:g.186331076A>C	ENSP00000273784:p.Asn49Thr		Somatic				AHSG_ENST00000273784.5_Missense_Mutation_p.N49T	p.N49T			WXS	Illumina GAIIx	Phase_I	P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	1	365	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		49			Cystatin fetuin-A-type 1.		A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37	c.146A>C		.	.	.	.	.	.	.	.	.	.	a	14.33	2.503743	0.44558	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.25250	1.81;1.81	5.73	5.73	0.89815	Proteinase inhibitor I25C, fetuin, conserved site (1);Proteinase inhibitor I25, cystatin (1);	0.000000	0.64402	D	0.000001	T	0.58722	0.2142	M	0.91354	3.2	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.67833	-0.5568	10	0.87932	D	0	-25.4877	12.7165	0.57117	1.0:0.0:0.0:0.0	.	115;49;49;49	F5H0Q5;P02765;C9JV77;B7Z556	.;FETUA_HUMAN;.;.	T	49;115;49	ENSP00000393887:N49T;ENSP00000273784:N49T	ENSP00000273784:N49T	N	+	2	0	AHSG	187813770	1.000000	0.71417	0.935000	0.37517	0.013000	0.08279	6.056000	0.71111	2.324000	0.78689	0.533000	0.62120	AAT		0.478	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		16	37	0	0	0	1	0	16	37					C	186331076	A	C	186331076	3	2	48	1	0	0	0	0	1	0	0	0	420	101	4	4	148	4	AHSG	3	186331076	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	306362	186331076	11691354	1146	5614										
KNG1	3827	broad.mit.edu	37	chr3	186460097	186460097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaaagaatcttattatttcGatctcactgatggcctttct	6	8	3	3	rs376740037		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:186460097G>A	ENST00000265023.4	+	10	2124	c.1912G>A	c.(1912-1914)Gat>Aat	p.D638N	RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|KNG1_ENST00000447445.1_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	638					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TTATTATTTCGATCTCACTGA	0.373																																						ENST00000265023.4																			0				endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(1912-1914)Gat>Aat		kininogen 1	Ouabain(DB01092)	G	,ASN/ASP,	0,3636		0,0,1818	92	87	89		,1912,	-1.6	0	3		89	1,8159		0,1,4079	no	intron,missense,intron	KNG1	NM_000893.3,NM_001102416.2,NM_001166451.1	,23,	0,1,5897	AA,AG,GG		0.0123,0.0,0.0085	,benign,	,638/645,	186460097	1,11795	1818	4080	5898	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186460097G>A		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1912G>A	3.37:g.186460097G>A	ENSP00000265023:p.Asp638Asn		Somatic				KNG1_ENST00000287611.2_Intron|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA	p.D638N	NM_001102416.2	NP_001095886.1	WXS	Illumina GAIIx	Phase_I	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	10	2124	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		638					A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.1912G>A	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	3.251	-0.153178	0.06585	0.0	1.23E-4	ENSG00000113889	ENST00000265023	T	0.18174	2.23	5.28	-1.57	0.08506	.	0.543366	0.16927	N	0.193836	T	0.09992	0.0245	N	0.20986	0.625	0.09310	N	0.99999	B	0.11235	0.004	B	0.04013	0.001	T	0.32348	-0.9910	9	.	.	.	-4.8529	12.105	0.53807	0.3051:0.0:0.6949:0.0	.	638	P01042	KNG1_HUMAN	N	638	ENSP00000265023:D638N	.	D	+	1	0	KNG1	187942791	0.370000	0.25047	0.015000	0.15790	0.001000	0.01503	0.218000	0.17622	-0.546000	0.06216	-1.458000	0.01028	GAT		0.373	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		28	46	0	0	0	1	0	28	46					A	186460097	G	A	186460097	3	1	48	1	0	0	0	0	1	0	0	0	8436	1058	37	1	1950	1	KNG1	3	186460097	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	129021	186460097	11562333	1147	5615										
RTP4	64108	broad.mit.edu	37	chr3	187089081	187089081	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgagaaattagggcccagtCgagacccagatccactgaac	10	11	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:187089081C>T	ENST00000259030.2	+	2	771	c.661C>T	c.(661-663)Cga>Tga	p.R221*		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	221					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)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AGGGCCCAGTCGAGACCCAGA	0.448																																						ENST00000259030.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(661-663)Cga>Tga		receptor (chemosensory) transporter protein 4							96	78	84					3																	187089081		2203	4300	6503	SO:0001587	stop_gained	64108				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:187089081C>T	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"Receptor transporter proteins"	23992	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 4"	609350	"receptor transporter protein 4"			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.661C>T	3.37:g.187089081C>T	ENSP00000259030:p.Arg221*		Somatic					p.R221*	NM_022147.2	NP_071430.2	WXS	Illumina GAIIx	Phase_I	Q96DX8	RTP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	771	+	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		221					Q9H4F3	Nonsense_Mutation	SNP	ENST00000259030.2	37	c.661C>T	CCDS33910.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201506	0.38905	.	.	ENSG00000136514	ENST00000259030	.	.	.	2.04	0.166	0.14999	.	2.329520	0.02585	N	0.099312	.	.	.	.	.	.	0.46798	D	0.999209	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	3.033	3.3086	0.07009	0.0:0.5512:0.2764:0.1723	.	.	.	.	X	221	.	ENSP00000259030:R221X	R	+	1	2	RTP4	188571775	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.080000	0.14802	0.023000	0.15187	-0.819000	0.03115	CGA		0.448	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		10	44	0	0	0	1	0	10	44					T	187089081	C	T	187089081	4	4	48	1	0	0	0	0	0	1	0	0	13751	876	31	1	667	1	RTP4	3	187089081	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	628984	187089081	10933349	1148	5616										
BCL6	604	broad.mit.edu	37	chr3	187451396	187451396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgacaacatcagtcaagatgTctcgactccggagacgatta	9	10	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:187451396T>C	ENST00000406870.2	-	3	452	c.86A>G	c.(85-87)gAc>gGc	p.D29G	BCL6_ENST00000496823.1_5'Flank|RP11-211G3.3_ENST00000449623.1_Missense_Mutation_p.S72P|BCL6_ENST00000232014.4_Missense_Mutation_p.D29G|BCL6_ENST00000450123.2_Missense_Mutation_p.D29G	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	29					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)		AGTCAAGATGTCTCGACTCCG	0.512			"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.(85-87)gAc>gGc		B-cell CLL/lymphoma 6							141	135	137					3																	187451396		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.chr3:187451396T>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.86A>G	3.37:g.187451396T>C	ENSP00000384371:p.Asp29Gly		Somatic				BCL6_ENST00000450123.2_Missense_Mutation_p.D29G|RP11-211G3.3_ENST00000449623.1_Missense_Mutation_p.S72P|BCL6_ENST00000232014.4_Missense_Mutation_p.D29G	p.D29G	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	452	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		29					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.86A>G	CCDS3289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.94|18.94	3.729244|3.729244	0.69074|0.69074	.|.	.|.	ENSG00000113916|ENSG00000228804	ENST00000406870;ENST00000232014;ENST00000450123;ENST00000430339;ENST00000438077|ENST00000449623	T;T;T;T;T|.	0.68624|.	-0.34;-0.34;-0.34;-0.34;-0.34|.	5.7|5.7	5.7|5.7	0.88788|0.88788	BTB/POZ (1);BTB/POZ fold (2);|.	0.043026|.	0.85682|.	D|.	0.000000|.	T|T	0.36358|0.36358	0.0964|0.0964	N|N	0.02111|0.02111	-0.68|-0.68	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.997;0.998|.	D;D|.	0.85130|.	0.947;0.997|.	T|T	0.54255|0.54255	-0.8321|-0.8321	10|6	0.72032|0.87932	D|D	0.01|0	.|.	15.4556|15.4556	0.75311|0.75311	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	29;29|.	B8PSA7;P41182|.	.;BCL6_HUMAN|.	G|P	29|72	ENSP00000384371:D29G;ENSP00000232014:D29G;ENSP00000413122:D29G;ENSP00000415574:D29G;ENSP00000414455:D29G|.	ENSP00000232014:D29G|ENSP00000407813:S72P	D|S	-|+	2|1	0|0	BCL6|RP11-211G3.3	188934090|188934090	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.788000|5.788000	0.69020|0.69020	2.299000|2.299000	0.77371|0.77371	0.528000|0.528000	0.53228|0.53228	GAC|TCT		0.512	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		42	96	0	0	0	1	0	42	96					C	187451396	T	C	187451396	3	2	48	1	0	0	0	0	1	0	0	0	1376	1667	58	4	2066	4	BCL6	3	187451396	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	362315	187451396	10571034	1149	5617										
IL1RAP	3556	broad.mit.edu	37	chr3	190363530	190363530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtatcctatgcaaggaatgCggaagaagaagaatttgtat	11	4	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:190363530C>T	ENST00000412504.2	+	10	1496	c.1244C>T	c.(1243-1245)gCg>gTg	p.A415V	IL1RAP_ENST00000317757.3_Missense_Mutation_p.A415V|IL1RAP_ENST00000447382.1_Missense_Mutation_p.A415V|IL1RAP_ENST00000072516.3_Missense_Mutation_p.A415V|IL1RAP_ENST00000439062.1_Missense_Mutation_p.A415V|IL1RAP_ENST00000443369.2_Missense_Mutation_p.A415V			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	415	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GCAAGGAATGCGGAAGAAGAA	0.388																																						ENST00000412504.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1243-1245)gCg>gTg		interleukin 1 receptor accessory protein							109	109	109					3																	190363530		2203	4300	6503	SO:0001583	missense	0				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190363530C>T	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1244C>T	3.37:g.190363530C>T	ENSP00000412053:p.Ala415Val		Somatic				IL1RAP_ENST00000443369.2_Missense_Mutation_p.A415V|IL1RAP_ENST00000072516.3_Missense_Mutation_p.A415V|IL1RAP_ENST00000447382.1_Missense_Mutation_p.A415V|IL1RAP_ENST00000439062.1_Missense_Mutation_p.A415V|IL1RAP_ENST00000317757.3_Missense_Mutation_p.A415V	p.A415V			WXS	Illumina GAIIx	Phase_I	Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	10	1496	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		415			TIR.		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	c.1244C>T	CCDS3298.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999608	0.54147	.	.	ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000317757	T;T;T;T;T;T	0.02421	4.3;4.3;4.3;4.3;4.3;4.3	5.63	4.75	0.60458	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.167697	0.52532	N	0.000061	T	0.03263	0.0095	L	0.41236	1.265	0.42050	D	0.991115	B;B	0.23442	0.085;0.003	B;B	0.17979	0.02;0.015	T	0.47711	-0.9096	10	0.14656	T	0.56	.	14.0855	0.64954	0.0:0.9269:0.0:0.0731	.	415;415	Q9NPH3-5;Q9NPH3	.;IL1AP_HUMAN	V	415	ENSP00000072516:A415V;ENSP00000408893:A415V;ENSP00000412053:A415V;ENSP00000401132:A415V;ENSP00000390541:A415V;ENSP00000314807:A415V	ENSP00000072516:A415V	A	+	2	0	IL1RAP	191846224	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	3.865000	0.56033	1.364000	0.46038	0.655000	0.94253	GCG		0.388	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			15	18	0	0	0	1	0	15	18					T	190363530	C	T	190363530	3	4	48	1	0	0	0	0	1	0	0	0	7669	768	27	1	1298	1	IL1RAP	3	190363530	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2912134	190363530	7658900	1150	5618										
OSTN	344901	broad.mit.edu	37	chr3	190936632	190936632	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaaactcttgcttcttgatGaattggtgtccctagaaaat	7	8	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:190936632G>T	ENST00000339051.1	+	2	199	c.199G>T	c.(199-201)Gaa>Taa	p.E67*	OSTN_ENST00000445281.1_Nonsense_Mutation_p.E67*|OSTN-AS1_ENST00000430375.1_RNA	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	67					cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|endochondral bone growth (GO:0003416)|negative regulation of glucose import (GO:0046325)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)	extracellular space (GO:0005615)				kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		GCTTCTTGATGAATTGGTGTC	0.453																																						ENST00000445281.1																			0				kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13						c.(199-201)Gaa>Taa		osteocrin							145	135	139					3																	190936632		2203	4300	6503	SO:0001587	stop_gained	344901				cell differentiation|multicellular organismal development|ossification		hormone activity	g.chr3:190936632G>T	AY398681	CCDS3299.1	3q29	2004-01-22			ENSG00000188729	ENSG00000188729			29961	protein-coding gene	gene with protein product		610280				14523025	Standard	NM_198184		Approved		uc011bsn.2	P61366	OTTHUMG00000156190	ENST00000339051.1:c.199G>T	3.37:g.190936632G>T	ENSP00000342356:p.Glu67*		Somatic				OSTN_ENST00000339051.1_Nonsense_Mutation_p.E67*|OSTN-AS1_ENST00000430375.1_RNA	p.E67*			WXS	Illumina GAIIx	Phase_I	P61366	OSTN_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)	3	266	+	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		67					A1A4U3	Nonsense_Mutation	SNP	ENST00000339051.1	37	c.199G>T	CCDS3299.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035691	0.93630	.	.	ENSG00000188729	ENST00000445281;ENST00000339051	.	.	.	5.54	5.54	0.83059	.	0.122894	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.066	18.4606	0.90737	0.0:0.0:1.0:0.0	.	.	.	.	X	67	.	ENSP00000342356:E67X	E	+	1	0	OSTN	192419326	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.382000	0.66213	2.610000	0.88304	0.561000	0.74099	GAA		0.453	OSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343350.1	NM_198184		13	30	1	0	3.03607e-14	1	3.94451e-14	13	30					T	190936632	G	T	190936632	4	4	48	1	0	0	0	0	0	1	0	0	11308	1291	45	2	205	2	OSTN	3	190936632	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	573102	190936632	7085798	1151	5619										
C3orf59	151963	broad.mit.edu	37	chr3	192517117	192517117	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccactttggtaggtgagaaGaagtagttggtggcaccatt	14	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:192517117G>T	ENST00000392452.2	-	2	854	c.534C>A	c.(532-534)ttC>ttA	p.F178L		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	178							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TAGGTGAGAAGAAGTAGTTGG	0.463																																						ENST00000392452.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(532-534)ttC>ttA		Mab-21 domain containing 2							92	93	93					3																	192517117		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192517117G>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.534C>A	3.37:g.192517117G>T	ENSP00000376246:p.Phe178Leu		Somatic					p.F178L	NM_178496.3	NP_848591.2	WXS	Illumina GAIIx	Phase_I	Q8IYB1	M21D2_HUMAN			2	854	-			178					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.534C>A	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	13.99	2.403140	0.42613	.	.	ENSG00000180611	ENST00000392452	T	0.08008	3.14	5.63	4.76	0.60689	.	0.048210	0.85682	D	0.000000	T	0.09468	0.0233	L	0.51422	1.61	0.58432	D	0.999997	P	0.38827	0.649	B	0.33042	0.157	T	0.05666	-1.0871	10	0.59425	D	0.04	.	13.6822	0.62493	0.0734:0.0:0.9266:0.0	.	178	Q8IYB1	M21D2_HUMAN	L	178	ENSP00000376246:F178L	ENSP00000376246:F178L	F	-	3	2	MB21D2	193999811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.100000	0.57762	1.389000	0.46526	0.655000	0.94253	TTC		0.463	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		35	37	1	0	8.4185e-14	1	1.08646e-13	35	37					T	192517117	G	T	192517117	3	4	48	1	0	0	0	0	1	0	0	0	2239	933	33	2	945	2	C3orf59	3	192517117	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1580485	192517117	5505313	1152	5620										
ATP13A5	344905	broad.mit.edu	37	chr3	193049090	193049090	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggccatggtcacagtatctTttggaggaacctgggagagg	16	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:193049090T>G	ENST00000342358.4	-	12	1400	c.1283A>C	c.(1282-1284)aAa>aCa	p.K428T		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	428						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)		CACAGTATCTTTTGGAGGAAC	0.542																																						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.(1282-1284)aAa>aCa		ATPase type 13A5							66	55	59					3																	193049090		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.chr3:193049090T>G	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1283A>C	3.37:g.193049090T>G	ENSP00000341942:p.Lys428Thr		Somatic					p.K428T	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)	12	1400	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		428					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.1283A>C	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	T	9.534	1.111560	0.20714	.	.	ENSG00000187527	ENST00000342358	D	0.88354	-2.37	6.16	-2.24	0.06909	ATPase, P-type, ATPase-associated domain (1);	0.914340	0.09561	N	0.785549	T	0.81541	0.4844	L	0.35487	1.065	0.09310	N	0.999997	B	0.23990	0.095	B	0.33121	0.158	T	0.65475	-0.6159	10	0.15066	T	0.55	-0.6494	8.6743	0.34170	0.0:0.313:0.108:0.579	.	428	Q4VNC0	AT135_HUMAN	T	428	ENSP00000341942:K428T	ENSP00000341942:K428T	K	-	2	0	ATP13A5	194531784	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	-0.003000	0.12901	-0.512000	0.06505	-0.248000	0.11899	AAA		0.542	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		15	23	0	0	0	1	0	15	23					G	193049090	T	G	193049090	3	3	48	1	0	0	0	0	1	0	0	0	1127	1841	64	4	2447	4	ATP13A5	3	193049090	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	531973	193049090	4973340	1153	5621										
ATP13A4	84239	broad.mit.edu	37	chr3	193207521	193207521	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attaatagaaaaactcacctCtctgagatcatatactgtca	4	9	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:193207521C>A	ENST00000342695.4	-	7	1058	c.736G>T	c.(736-738)Gag>Tag	p.E246*	ATP13A4_ENST00000392443.3_Nonsense_Mutation_p.E246*|ATP13A4_ENST00000295548.3_Nonsense_Mutation_p.E246*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	246						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)		AAACTCACCTCTCTGAGATCA	0.318																																						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.(736-738)Gag>Tag		ATPase type 13A4							110	118	115					3																	193207521		2203	4299	6502	SO:0001587	stop_gained	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.chr3:193207521C>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.736G>T	3.37:g.193207521C>A	ENSP00000339182:p.Glu246*		Somatic				ATP13A4_ENST00000392443.3_Nonsense_Mutation_p.E246*|ATP13A4_ENST00000295548.3_Nonsense_Mutation_p.E246*	p.E246*	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)	7	1058	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		246					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Nonsense_Mutation	SNP	ENST00000342695.4	37	c.736G>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	34	5.385089	0.95967	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	.	.	.	5.35	-3.31	0.04988	.	0.652152	0.14887	N	0.292608	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.3858	14.844	0.70246	0.0:0.1655:0.7004:0.1341	.	.	.	.	X	246	.	ENSP00000295548:E246X	E	-	1	0	ATP13A4	194690215	0.015000	0.18098	0.972000	0.41901	0.817000	0.46193	-1.422000	0.02453	-0.486000	0.06744	-0.523000	0.04350	GAG		0.318	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		18	83	1	0	1.67942e-08	1	1.98515e-08	18	83					A	193207521	C	A	193207521	4	1	48	1	0	0	0	0	0	1	0	0	1126	922	32	2	2950	2	ATP13A4	3	193207521	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	158431	193207521	4814909	1154	5622										
OPA1	4976	broad.mit.edu	37	chr3	193332780	193332780	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctacgagactcttaaaacttCgctatctcatactaggatcg	6	11	2	1	rs371943668		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:193332780C>T	ENST00000392438.3	+	2	535	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361150.2_Missense_Mutation_p.R101C|OPA1_ENST00000361510.2_Missense_Mutation_p.R101C|OPA1_ENST00000361715.2_Missense_Mutation_p.R101C|OPA1_ENST00000361908.3_Missense_Mutation_p.R101C|OPA1_ENST00000361828.2_Missense_Mutation_p.R101C	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	101					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)		CTTAAAACTTCGCTATCTCAT	0.413																																						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.(301-303)Cgc>Tgc		optic atrophy 1 (autosomal dominant)		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	55	56	55		301,301,301,301,301,301,301,301	5.1	1	3		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense	OPA1	NM_015560.2,NM_130831.2,NM_130832.2,NM_130833.2,NM_130834.2,NM_130835.2,NM_130836.2,NM_130837.2	180,180,180,180,180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	101/961,101/925,101/943,101/962,101/979,101/980,101/998,101/1016	193332780	1,13005	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.chr3:193332780C>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.301C>T	3.37:g.193332780C>T	ENSP00000376233:p.Arg101Cys		Somatic				OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361828.2_Missense_Mutation_p.R101C|OPA1_ENST00000392438.3_Missense_Mutation_p.R101C|OPA1_ENST00000361150.2_Missense_Mutation_p.R101C|OPA1_ENST00000361908.3_Missense_Mutation_p.R101C|OPA1_ENST00000361715.2_Missense_Mutation_p.R101C	p.R101C	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	535	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		101					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.301C>T	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543782	0.65198	0.0	1.16E-4	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000392437;ENST00000392436	D;D;D;D;D;D;D;D	0.99194	-5.11;-4.83;-5.54;-5.07;-4.69;-5.27;-3.5;-2.76	5.97	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.99165	0.9711	M	0.74881	2.28	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;0.994;1.0;1.0;0.997;1.0;0.993;1.0	D	0.99533	1.0961	10	0.87932	D	0	-11.2223	15.6933	0.77473	0.1378:0.8621:0.0:0.0	.	101;101;101;101;101;101;101;101	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	C	101	ENSP00000354681:R101C;ENSP00000376233:R101C;ENSP00000355324:R101C;ENSP00000355311:R101C;ENSP00000354429:R101C;ENSP00000354781:R101C;ENSP00000376232:R101C;ENSP00000376231:R101C	ENSP00000354781:R101C	R	+	1	0	OPA1	194815474	1.000000	0.71417	0.994000	0.49952	0.726000	0.41606	3.177000	0.50871	1.515000	0.48885	-0.182000	0.12963	CGC		0.413	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		18	34	0	0	0	1	0	18	34					T	193332780	C	T	193332780	3	4	48	1	0	0	0	0	1	0	0	0	10880	884	31	1	307	1	OPA1	3	193332780	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	125259	193332780	4689650	1155	5623										
APOD	347	broad.mit.edu	37	chr3	195300766	195300766	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctttccgttttccattagtGagtagttggcctggatgcag	11	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:195300766G>T	ENST00000343267.3	-	3	561	c.200C>A	c.(199-201)tCa>tAa	p.S67*		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	67					aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TTCCATTAGTGAGTAGTTGGC	0.512																																						ENST00000343267.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(199-201)tCa>tAa		apolipoprotein D							169	146	154					3																	195300766		2203	4300	6503	SO:0001587	stop_gained	347				lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding	g.chr3:195300766G>T		CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"Lipocalins", "Apolipoproteins"	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.200C>A	3.37:g.195300766G>T	ENSP00000345179:p.Ser67*		Somatic					p.S67*	NM_001647.3	NP_001638.1	WXS	Illumina GAIIx	Phase_I	P05090	APOD_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	561	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	67					B2R579|D3DNW6|Q6IBG6	Nonsense_Mutation	SNP	ENST00000343267.3	37	c.200C>A	CCDS33925.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956366	0.92726	.	.	ENSG00000189058	ENST00000343267;ENST00000421243;ENST00000453131	.	.	.	5.73	5.73	0.89815	.	0.289830	0.34268	N	0.004116	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5641	15.3967	0.74801	0.0:0.0:1.0:0.0	.	.	.	.	X	67;95;67	.	ENSP00000345179:S67X	S	-	2	0	APOD	196782055	0.990000	0.36364	0.962000	0.40283	0.530000	0.34684	3.967000	0.56802	2.700000	0.92200	0.655000	0.94253	TCA		0.512	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342004.1	NM_001647		6	61	1	0	0.0293803	1	0.0299069	6	61					T	195300766	G	T	195300766	4	4	48	1	0	0	0	0	0	1	0	0	801	1294	45	2	381	2	APOD	3	195300766	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1967986	195300766	2721664	1156	5624										
MUC4	4585	broad.mit.edu	37	chr3	195481210	195481210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagccctcgcagtagcggcCgaaggtgcccccgtcacact	13	16	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:195481210C>T	ENST00000346145.4	-	18	2533	c.2494G>A	c.(2494-2496)Ggc>Agc	p.G832S	MUC4_ENST00000349607.4_Missense_Mutation_p.G781S|MUC4_ENST00000475231.1_Missense_Mutation_p.G5016S|MUC4_ENST00000463781.3_Missense_Mutation_p.G5068S	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1825	Ser-rich.				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)		CAGTAGCGGCCGAAGGTGCCC	0.657																																						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.(15202-15204)Ggc>Agc		mucin 4, cell surface associated							38	39	39					3																	195481210		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.chr3:195481210C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2494G>A	3.37:g.195481210C>T	ENSP00000304207:p.Gly832Ser		Somatic				MUC4_ENST00000346145.4_Missense_Mutation_p.G832S|MUC4_ENST00000349607.4_Missense_Mutation_p.G781S|MUC4_ENST00000475231.1_Missense_Mutation_p.G5016S	p.G5068S	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)	19	15661	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1825					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.15202G>A	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	18.64	3.666874	0.67814	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	D;D;D;D	0.89050	-2.46;-2.12;-2.46;-2.17	5.46	4.55	0.56014	.	0.000000	0.53938	D	0.000043	D	0.95140	0.8425	M	0.91510	3.215	0.30737	N	0.746637	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.998;0.998;0.997;0.997;0.999	D	0.93619	0.6946	10	0.87932	D	0	-23.2882	12.3037	0.54889	0.1697:0.8303:0.0:0.0	.	4940;781;832;5068;5016;1773	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	S	781;832;5068;5016;1568	ENSP00000338109:G781S;ENSP00000304207:G832S;ENSP00000417498:G5068S;ENSP00000420243:G5016S	ENSP00000304207:G832S	G	-	1	0	MUC4	196966881	0.974000	0.33945	0.485000	0.27403	0.046000	0.14306	4.436000	0.59948	1.241000	0.43820	0.450000	0.29827	GGC		0.657	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		6	55	0	0	0	1	0	6	55					T	195481210	C	T	195481210	3	4	48	1	0	0	0	0	1	0	0	0	9987	652	23	1	1064	1	MUC4	3	195481210	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	180444	195481210	2541220	1157	5625										
MUC4	4585	broad.mit.edu	37	chr3	195505212	195505212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggatgggggcagctgtggagCgggtgtgcatggcagtgctg	22	6	0	0	rs141462807	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:195505212C>T	ENST00000346145.4	-	2	236	c.197G>A	c.(196-198)cGc>cAc	p.R66H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.R4302H|MUC4_ENST00000463781.3_Missense_Mutation_p.R4302H	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1059					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)		AGCTGTGGAGCGGGTGTGCAT	0.597													.|||	2	0.000399361	0.0015	0	5008	,	,		10361	0		0	False		,,,				2504	0					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.(12904-12906)cGc>cAc		mucin 4, cell surface associated		C	,HIS/ARG,HIS/ARG	3,4397	6.2+/-15.9	0,3,2197	182	139	153		,12905,197	-3.5	0	3	dbSNP_134	153	0,8596		0,0,4298	yes	intron,missense,missense	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,29,29	0,3,6495	TT,TC,CC		0.0,0.0682,0.0231	,benign,benign	,4302/5413,66/1177	195505212	3,12993	2200	4298	6498	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.chr3:195505212C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.197G>A	3.37:g.195505212C>T	ENSP00000304207:p.Arg66His		Somatic				MUC4_ENST00000346145.4_Missense_Mutation_p.R66H|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.R4302H	p.R4302H	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)	3	13364	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1059					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.12905G>A	CCDS3310.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	c	12.11	1.840177	0.32513	6.82E-4	0.0	ENSG00000145113	ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T	0.33438	1.47;1.42;1.41	3.1	-3.54	0.04653	.	2.930770	0.01484	N	0.016787	T	0.17619	0.0423	L	0.29908	0.895	0.09310	N	1	B;P;B	0.35401	0.054;0.499;0.054	B;B;B	0.20384	0.006;0.029;0.01	T	0.13656	-1.0501	10	0.14656	T	0.56	0.1586	9.1627	0.37032	0.0:0.2299:0.0:0.7701	.	4174;1059;66	E7ESK3;Q99102;Q99102-13	.;MUC4_HUMAN;.	H	66;4302;4302;1028	ENSP00000304207:R66H;ENSP00000417498:R4302H;ENSP00000420243:R4302H	ENSP00000304207:R66H	R	-	2	0	MUC4	196989991	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.504000	0.00449	-0.833000	0.04245	-0.385000	0.06624	CGC		0.597	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		23	43	0	0	0	1	0	23	43					T	195505212	C	T	195505212	3	4	48	1	0	0	0	0	1	0	0	0	9987	768	27	1	3425	1	MUC4	3	195505212	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	24002	195505212	2517218	1158	5626										
RNF168	165918	broad.mit.edu	37	chr3	196199276	196199276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttactgatcagtaggcacGactcttcattttctgtctca	6	12	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:196199276G>A	ENST00000318037.3	-	6	1724	c.1130C>T	c.(1129-1131)tCg>tTg	p.S377L	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	377					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-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;0.00348)		CAGTAGGCACGACTCTTCATT	0.443																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(1129-1131)tCg>tTg		ring finger protein 168, E3 ubiquitin protein ligase							143	143	143					3																	196199276		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196199276G>A	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"RING-type (C3HC4) zinc fingers"	26661	protein-coding gene	gene with protein product		612688	"ring finger protein 168"			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.1130C>T	3.37:g.196199276G>A	ENSP00000320898:p.Ser377Leu		Somatic					p.S377L	NM_152617.3	NP_689830.2	WXS	Illumina GAIIx	Phase_I	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-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;0.00348)	6	1724	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		377					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.1130C>T	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	G	5.595	0.294578	0.10567	.	.	ENSG00000163961	ENST00000318037	T	0.07444	3.19	6.08	0.777	0.18538	.	2.101910	0.01565	N	0.020297	T	0.07999	0.0200	L	0.36672	1.1	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.33007	-0.9885	10	0.29301	T	0.29	-0.0255	4.3739	0.11262	0.1171:0.1578:0.4653:0.2599	.	377	Q8IYW5	RN168_HUMAN	L	377	ENSP00000320898:S377L	ENSP00000320898:S377L	S	-	2	0	RNF168	197683673	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.282000	0.18829	0.130000	0.18549	-1.094000	0.02160	TCG		0.443	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		39	64	0	0	0	1	0	39	64					A	196199276	G	A	196199276	3	1	48	1	0	0	0	0	1	0	0	0	13474	1059	37	1	589	1	RNF168	3	196199276	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	694064	196199276	1823154	1159	5627										
SENP5	205564	broad.mit.edu	37	chr3	196650379	196650379	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actctctaatcgaattatttCattttatgattcccaaggca	4	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:196650379C>A	ENST00000323460.5	+	7	2228	c.1979C>A	c.(1978-1980)tCa>tAa	p.S660*	SENP5_ENST00000445299.2_Intron|SENP5_ENST00000419026.1_Nonsense_Mutation_p.S150*	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	660	Protease.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CGAATTATTTCATTTTATGAT	0.333																																					Ovarian(47;891 1095 11174 13858 51271)	ENST00000323460.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32						c.(1978-1980)tCa>tAa		SUMO1/sentrin specific peptidase 5							144	139	141					3																	196650379		2202	4300	6502	SO:0001587	stop_gained	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196650379C>A	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"SUMO1/sentrin specific protease 5"			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1979C>A	3.37:g.196650379C>A	ENSP00000327197:p.Ser660*		Somatic				SENP5_ENST00000445299.2_Intron|SENP5_ENST00000419026.1_Nonsense_Mutation_p.S150*	p.S660*	NM_152699.4	NP_689912.2	WXS	Illumina GAIIx	Phase_I	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	7	2228	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		660			Protease.		B4DY82|Q96SA5	Nonsense_Mutation	SNP	ENST00000323460.5	37	c.1979C>A	CCDS3322.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.084720|9.084720	0.99061|0.99061	.|.	.|.	ENSG00000119231|ENSG00000119231	ENST00000448068|ENST00000323460;ENST00000419026	.|.	.|.	.|.	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	.|0.261958	.|0.38436	.|N	.|0.001690	T|.	0.36936|.	0.0985|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32025|.	-0.9922|.	3|.	.|0.02654	.|T	.|1	-0.7848|-0.7848	15.4162|15.4162	0.74970|0.74970	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	N|X	31|660;150	.|.	.|ENSP00000327197:S660X	H|S	+|+	1|2	0|0	SENP5|SENP5	198134776|198134776	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.856000|2.856000	0.48341|0.48341	2.305000|2.305000	0.77605|0.77605	0.555000|0.555000	0.69702|0.69702	CAT|TCA		0.333	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		12	40	1	0	2.27111e-07	1	2.60515e-07	12	40					A	196650379	C	A	196650379	4	1	48	1	0	0	0	0	0	1	0	0	14064	838	29	2	2001	2	SENP5	3	196650379	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	451103	196650379	1372051	1160	5628										
ZNF721	170960	broad.mit.edu	37	chr4	435658	435658	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttttgccacattctccacaTgtgtagggtttctctccagt	8	11	2	0	rs368829120		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:435658T>C	ENST00000338977.5	-	2	2610	c.2562A>G	c.(2560-2562)acA>acG	p.T854T	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.T866T|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	854					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						ATTCTCCACATGTGTAGGGTT	0.423																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(2560-2562)acA>acG		zinc finger protein 721							61	65	64					4																	435658		2098	4245	6343	SO:0001819	synonymous_variant	170960							g.chr4:435658T>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.2562A>G	4.37:g.435658T>C			Somatic				ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Silent_p.T866T|ZNF721_ENST00000507078.1_Intron	p.T854T			WXS	Illumina GAIIx	Phase_I					2	2610	-								Q69YG7	Silent	SNP	ENST00000338977.5	37	c.2562A>G																																																																																					0.423	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		20	28	0	0	0	1	0	20	28					C	435658	T	C	435658	2	2	48	1	0	0	0	0	0	0	0	1	18137	1451	51	4		4	ZNF721	4	435658	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08		435658	190718618	1161	5629										
ZNF721	170960	broad.mit.edu	37	chr4	436594	436594	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttcacatgtgtagggtttCtctccagtatgaattctcct	7	10	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:436594C>A	ENST00000338977.5	-	2	1674	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.E554D|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	542					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						TGTAGGGTTTCTCTCCAGTAT	0.403																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(1624-1626)gaG>gaT		zinc finger protein 721							91	99	96					4																	436594		2111	4264	6375	SO:0001583	missense	170960							g.chr4:436594C>A	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1626G>T	4.37:g.436594C>A	ENSP00000340524:p.Glu542Asp		Somatic				ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.E554D|ZNF721_ENST00000507078.1_Intron	p.E542D			WXS	Illumina GAIIx	Phase_I					2	1674	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.1626G>T		.	.	.	.	.	.	.	.	.	.	C	16.12	3.034458	0.54896	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.26810	1.71;1.71	1.28	0.147	0.14838	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24586	0.0596	N	0.12663	0.25	0.24902	N	0.992096	P;P;B	0.41041	0.736;0.486;0.431	P;P;P	0.60236	0.871;0.871;0.796	T	0.23332	-1.0191	9	0.66056	D	0.02	.	2.7089	0.05169	0.0:0.4661:0.3085:0.2254	.	542;554;554	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	D	542;554	ENSP00000340524:E542D;ENSP00000428878:E554D	ENSP00000340524:E542D	E	-	3	2	ZNF721	426594	0.671000	0.27521	0.032000	0.17829	0.810000	0.45777	0.210000	0.17455	-0.289000	0.09038	0.184000	0.17185	GAG		0.403	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		38	67	1	0	1.03484e-13	1	1.33003e-13	38	67					A	436594	C	A	436594	3	1	48	1	0	0	0	0	1	0	0	0	18137	912	32	2	1113	2	ZNF721	4	436594	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	936	436594	190717682	1162	5630										
PDE6B	5158	broad.mit.edu	37	chr4	654306	654306	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacatctacgaattccacttCtctgacctggagtgcaccga	8	13	2	1	rs552436847		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:654306C>A	ENST00000496514.1	+	12	1539	c.1518C>A	c.(1516-1518)ttC>ttA	p.F506L	PDE6B_ENST00000429163.2_Missense_Mutation_p.F227L|PDE6B_ENST00000255622.6_Missense_Mutation_p.F506L|RP11-1191J2.5_ENST00000609172.1_RNA			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	506					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	AATTCCACTTCTCTGACCTGG	0.592																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(1516-1518)ttC>ttA		phosphodiesterase 6B, cGMP-specific, rod, beta							93	75	81					4																	654306		2203	4300	6503	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:654306C>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1518C>A	4.37:g.654306C>A	ENSP00000420295:p.Phe506Leu		Somatic				PDE6B_ENST00000496514.1_Missense_Mutation_p.F506L|PDE6B_ENST00000429163.2_Missense_Mutation_p.F227L	p.F506L	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	WXS	Illumina GAIIx	Phase_I	P35913	PDE6B_HUMAN			12	1561	+			506					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.1518C>A	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564793	0.45694	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.78707	-1.2;-1.2;-1.2	4.25	3.41	0.39046	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.80008	0.4545	M	0.77313	2.365	0.50039	D	0.999842	P;P	0.43788	0.553;0.817	B;P	0.46510	0.32;0.519	T	0.80355	-0.1417	10	0.87932	D	0	.	9.632	0.39785	0.0:0.8945:0.0:0.1055	.	506;506	P35913;P35913-2	PDE6B_HUMAN;.	L	506;506;227	ENSP00000255622:F506L;ENSP00000420295:F506L;ENSP00000406334:F227L	ENSP00000255622:F506L	F	+	3	2	PDE6B	644306	1.000000	0.71417	0.995000	0.50966	0.661000	0.39034	1.397000	0.34543	0.778000	0.33520	0.297000	0.19635	TTC		0.592	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		15	23	1	0	1.05317e-09	1	1.27574e-09	15	23					A	654306	C	A	654306	3	1	48	1	0	0	0	0	1	0	0	0	11655	912	32	2	1564	2	PDE6B	4	654306	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	217712	654306	190499970	1163	5631										
KIAA1530	57654	broad.mit.edu	37	chr4	1345579	1345579	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagcagaagcacttggataAaatttatcaagaaagagcca	9	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:1345579A>C	ENST00000389851.4	+	4	953	c.506A>C	c.(505-507)aAa>aCa	p.K169T	UVSSA_ENST00000511216.1_Missense_Mutation_p.K169T|UVSSA_ENST00000507531.1_Missense_Mutation_p.K169T	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	169					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)										CACTTGGATAAAATTTATCAA	0.517											OREG0016033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000389851.4																			0											c.(505-507)aAa>aCa		UV-stimulated scaffold protein A							65	75	72					4																	1345579		2203	4300	6503	SO:0001583	missense	57654							g.chr4:1345579A>C	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.506A>C	4.37:g.1345579A>C	ENSP00000374501:p.Lys169Thr		Somatic	OREG0016033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	595	UVSSA_ENST00000511216.1_Missense_Mutation_p.K169T|UVSSA_ENST00000507531.1_Missense_Mutation_p.K169T	p.K169T	NM_020894.2	NP_065945.2	WXS	Illumina GAIIx	Phase_I	Q2YD98	K1530_HUMAN			4	953	+			169					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.506A>C	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	A	7.182	0.589783	0.13812	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.31510	1.49;1.49;1.49	5.11	-5.5	0.02576	.	0.844225	0.10865	N	0.625660	T	0.16128	0.0388	N	0.25647	0.755	0.09310	N	0.999999	B	0.14438	0.01	B	0.10450	0.005	T	0.32268	-0.9913	10	0.18710	T	0.47	.	9.1434	0.36917	0.6145:0.0:0.2918:0.0937	.	169	Q2YD98	K1530_HUMAN	T	169	ENSP00000425130:K169T;ENSP00000374501:K169T;ENSP00000421741:K169T	ENSP00000374501:K169T	K	+	2	0	KIAA1530	1335579	0.000000	0.05858	0.000000	0.03702	0.554000	0.35429	-0.215000	0.09279	-0.945000	0.03681	0.459000	0.35465	AAA		0.517	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		18	53	0	0	0	1	0	18	53					C	1345579	A	C	1345579	3	2	48	1	0	0	0	0	1	0	0	0	8250	14	1	4	516	4	KIAA1530	4	1345579	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	691273	1345579	189808697	1164	5632										
SLBP	7884	broad.mit.edu	37	chr4	1698041	1698041	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actatacttcttaaatttatTaggggtcttgggatgaatgc	9	5	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:1698041T>G	ENST00000489418.1	-	6	883	c.517A>C	c.(517-519)Aat>Cat	p.N173H	SLBP_ENST00000488267.1_Missense_Mutation_p.N138H|SLBP_ENST00000429429.2_Missense_Mutation_p.N134H|SLBP_ENST00000318386.4_Missense_Mutation_p.N180H	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	stem-loop binding protein	173	RNA-binding.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA transport (GO:0051028)|nuclear cell cycle DNA replication (GO:0033260)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	histone pre-mRNA DCP binding (GO:0071208)|histone pre-mRNA stem-loop binding (GO:0071207)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			TTAAATTTATTAGGGGTCTTG	0.458																																						ENST00000489418.1																			0				endometrium(1)|large_intestine(2)|lung(2)	5						c.(517-519)Aat>Cat		stem-loop binding protein							121	121	121					4																	1698041		2203	4300	6503	SO:0001583	missense	7884				DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding	g.chr4:1698041T>G	Z71188	CCDS3350.1	4p16.3	2008-02-11	2008-02-11		ENSG00000163950	ENSG00000163950			10904	protein-coding gene	gene with protein product	"histone binding protein"	602422	"stem-loop (histone) binding protein"			9049306, 1338771	Standard	NM_006527		Approved	HBP	uc003gdi.1	Q14493	OTTHUMG00000089349	ENST00000489418.1:c.517A>C	4.37:g.1698041T>G	ENSP00000417686:p.Asn173His		Somatic				SLBP_ENST00000318386.4_Missense_Mutation_p.N180H|SLBP_ENST00000488267.1_Missense_Mutation_p.N138H|SLBP_ENST00000429429.2_Missense_Mutation_p.N134H	p.N173H	NM_006527.2	NP_006518.1	WXS	Illumina GAIIx	Phase_I	Q14493	SLBP_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0055)		6	883	-		Breast(71;0.212)|all_epithelial(65;0.241)	173			RNA-binding.		B3KRJ5	Missense_Mutation	SNP	ENST00000489418.1	37	c.517A>C	CCDS3350.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.4|22.4	4.283356|4.283356	0.80803|0.80803	.|.	.|.	ENSG00000163950|ENSG00000163950	ENST00000429429;ENST00000489418;ENST00000460392;ENST00000318386;ENST00000488267|ENST00000480936	.|.	.|.	.|.	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78291|.	0.4260|.	M|M	0.86268|0.86268	2.805|2.805	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.83275|.	0.983;0.996;0.986;0.991;0.996|.	T|.	0.81444|.	-0.0930|.	9|.	0.72032|.	D|.	0.01|.	-11.9811|-11.9811	14.5258|14.5258	0.67887|0.67887	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	138;180;134;153;173|.	E7EUV9;F8W8D3;B3KRJ5;C9IY53;Q14493|.	.;.;.;.;SLBP_HUMAN|.	H|S	134;173;153;180;138|180	.|.	ENSP00000316490:N180H|.	N|X	-|-	1|2	0|2	SLBP|SLBP	1667839|1667839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.748000|0.748000	0.42578|0.42578	7.343000|7.343000	0.79319|0.79319	1.838000|1.838000	0.53458|0.53458	0.533000|0.533000	0.62120|0.62120	AAT|TAA		0.458	SLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203176.1	NM_006527		28	97	0	0	0	1	0	28	97					G	1698041	T	G	1698041	3	3	48	1	0	0	0	0	1	0	0	0	14387	1754	61	4	307	4	SLBP	4	1698041	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	352462	1698041	189456235	1165	5633										
POLN	353497	broad.mit.edu	37	chr4	2210083	2210083	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tactgtggaattaaacaactTgaaagagtcaatgagctgat	9	5	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:2210083T>G	ENST00000511885.2	-	5	698	c.345A>C	c.(343-345)tcA>tcC	p.S115S	POLN_ENST00000382865.1_Silent_p.S115S|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	115					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)			TTAAACAACTTGAAAGAGTCA	0.398								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.(343-345)tcA>tcC	DNA polymerases (catalytic subunits)	polymerase (DNA directed) nu							78	82	81					4																	2210083		2202	4300	6502	SO:0001819	synonymous_variant	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2210083T>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.345A>C	4.37:g.2210083T>G			Somatic				POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Silent_p.S115S	p.S115S			WXS	Illumina GAIIx	Phase_I	Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		5	698	-			115					A2A336|B4E158|Q4TTW4|Q6ZNF4	Silent	SNP	ENST00000511885.2	37	c.345A>C	CCDS3360.1																																																																																				0.398	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		28	48	0	0	0	1	0	28	48					G	2210083	T	G	2210083	2	3	48	1	0	0	0	0	0	0	0	1	12216	1799	63	4		4	POLN	4	2210083	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	512042	2210083	188944193	1166	5634										
HAUS3	79441	broad.mit.edu	37	chr4	2242595	2242595	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccctcaaacaaccagtcaaAgtcttctccattaagattat	4	12	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:2242595A>C	ENST00000243706.4	-	2	308	c.79T>G	c.(79-81)Ttt>Gtt	p.F27V	HAUS3_ENST00000443786.2_Missense_Mutation_p.F27V|HAUS3_ENST00000506763.1_Missense_Mutation_p.F27V|POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	27					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AACCAGTCAAAGTCTTCTCCA	0.373																																						ENST00000243706.4																			0				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(79-81)Ttt>Gtt		HAUS augmin-like complex, subunit 3							96	90	92					4																	2242595		2203	4300	6503	SO:0001583	missense	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2242595A>C	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"HAUS augmin-like complex subunits"	28719	protein-coding gene	gene with protein product		613430	"chromosome 4 open reading frame 15"	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.79T>G	4.37:g.2242595A>C	ENSP00000243706:p.Phe27Val		Somatic				POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.F27V|HAUS3_ENST00000506763.1_Missense_Mutation_p.F27V	p.F27V	NM_024511.5	NP_078787.2	WXS	Illumina GAIIx	Phase_I	Q68CZ6	HAUS3_HUMAN			2	308	-			27					B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	37	c.79T>G	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.806085	0.90623	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786;ENST00000514395	T;T	0.57595	0.39;0.39	4.68	4.68	0.58851	.	0.000000	0.85682	U	0.000000	T	0.72053	0.3413	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	0.76639	-0.2885	10	0.87932	D	0	-20.0204	13.599	0.62007	1.0:0.0:0.0:0.0	.	27;27	B4DF64;Q68CZ6	.;HAUS3_HUMAN	V	27	ENSP00000243706:F27V;ENSP00000392903:F27V	ENSP00000243706:F27V	F	-	1	0	HAUS3	2212393	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.756000	0.85195	1.850000	0.53721	0.459000	0.35465	TTT		0.373	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		8	68	0	0	0	1	0	8	68					C	2242595	A	C	2242595	3	2	48	1	0	0	0	0	1	0	0	0	6976	72	3	4	1748	4	HAUS3	4	2242595	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	32512	2242595	188911681	1167	5635										
GRK4	2868	broad.mit.edu	37	chr4	3011413	3011413	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacatttagacattacagagTtctaggaaaaggcggatttg	10	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:3011413T>C	ENST00000398052.4	+	7	918	c.575T>C	c.(574-576)gTt>gCt	p.V192A	GRK4_ENST00000345167.6_Missense_Mutation_p.V160A|GRK4_ENST00000504933.1_Missense_Mutation_p.V192A|GRK4_ENST00000398051.4_Missense_Mutation_p.V160A	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|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)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CATTACAGAGTTCTAGGAAAA	0.443																																						ENST00000398052.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(574-576)gTt>gCt		G protein-coupled receptor kinase 4							117	106	110					4																	3011413		2203	4300	6503	SO:0001583	missense	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3011413T>C		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"G protein-coupled receptor kinase 2-like (Drosophila)"	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.575T>C	4.37:g.3011413T>C	ENSP00000381129:p.Val192Ala		Somatic				GRK4_ENST00000398051.4_Missense_Mutation_p.V160A|GRK4_ENST00000345167.6_Missense_Mutation_p.V160A|GRK4_ENST00000504933.1_Missense_Mutation_p.V192A	p.V192A	NM_182982.2	NP_892027.2	WXS	Illumina GAIIx	Phase_I	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	7	918	+			192			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	c.575T>C	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	T	32	5.138933	0.94560	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	T	0.48750	0.1517	M	0.67625	2.065	0.80722	D	1	P;P;D;D	0.61080	0.912;0.525;0.989;0.984	P;P;P;D	0.65874	0.64;0.526;0.899;0.939	T	0.50065	-0.8871	10	0.87932	D	0	-13.676	15.3254	0.74157	0.0:0.0:0.0:1.0	.	160;160;192;192	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	A	160;192;160;192	ENSP00000381128:V160A;ENSP00000381129:V192A;ENSP00000264764:V160A;ENSP00000427445:V192A	ENSP00000264764:V160A	V	+	2	0	GRK4	2981211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.970000	0.70431	2.217000	0.71921	0.529000	0.55759	GTT		0.443	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		8	54	0	0	0	1	0	8	54					C	3011413	T	C	3011413	3	2	48	1	0	0	0	0	1	0	0	0	6800	1725	60	4	601	4	GRK4	4	3011413	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	768818	3011413	188142863	1168	5636										
HTT	3064	broad.mit.edu	37	chr4	3231768	3231768	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcagctgccgtccttgggaTggtaagtgacaggtggcaca	16	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:3231768T>G	ENST00000355072.5	+	60	8409	c.8264T>G	c.(8263-8265)aTg>aGg	p.M2755R	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2755					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)		GTCCTTGGGATGGTAAGTGAC	0.627																																						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.e60+1		huntingtin							64	65	65					4																	3231768		2119	4229	6348	SO:0001630	splice_region_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3231768T>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.8265+1T>G	4.37:g.3231768T>G			Somatic				HTT_ENST00000513806.1_3'UTR	p.M2755_splice	NM_002111.6	NP_002102.4	WXS	Illumina GAIIx	Phase_I	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	60	8409	+		all_epithelial(65;0.18)	2755					Q9UQB7	Splice_Site	SNP	ENST00000355072.5	37	c.8265_splice	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180157	0.57800	.	.	ENSG00000197386	ENST00000355072	T	0.05649	3.41	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.08935	0.0221	M	0.64997	1.995	0.80722	D	1	B	0.32939	0.391	B	0.27380	0.079	T	0.05131	-1.0904	10	0.59425	D	0.04	.	13.5409	0.61672	0.0:0.0:0.0:1.0	.	2755	P42858	HD_HUMAN	R	2755	ENSP00000347184:M2755R	ENSP00000347184:M2755R	M	+	2	0	HTT	3201566	1.000000	0.71417	0.995000	0.50966	0.863000	0.49368	7.326000	0.79133	1.985000	0.57927	0.533000	0.62120	ATG		0.627	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	Missense_Mutation	4	63	0	0	0	1	0	4	63					G	3231768	T	G	3231768	5	3	48	1	0	0	0	0	0	0	1	0	7466	1478	51	4	8502	4	HTT	4	3231768	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	220355	3231768	187922508	1169	5637										
HGFAC	3083	broad.mit.edu	37	chr4	3449289	3449289	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcacgacggacgtgacgcagAccttcggcatcgagaagtac	13	12	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:3449289A>C	ENST00000382774.3	+	11	1541	c.1426A>C	c.(1426-1428)Acc>Ccc	p.T476P	HGFAC_ENST00000511533.1_Missense_Mutation_p.T483P	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	476	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGTGACGCAGACCTTCGGCAT	0.647																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(1426-1428)Acc>Ccc		HGF activator							206	180	189					4																	3449289		2203	4300	6503	SO:0001583	missense	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3449289A>C	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1426A>C	4.37:g.3449289A>C	ENSP00000372224:p.Thr476Pro		Somatic				HGFAC_ENST00000511533.1_Missense_Mutation_p.T483P	p.T476P	NM_001528.2	NP_001519.1	WXS	Illumina GAIIx	Phase_I	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	11	1541	+			476			Peptidase S1.		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	c.1426A>C	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.317167	0.40996	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.88896	-2.44;-2.44	3.59	-2.03	0.07365	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.450124	0.22137	N	0.064105	D	0.86818	0.6024	L	0.37507	1.11	0.48341	D	0.999632	D;P	0.62365	0.991;0.676	D;B	0.64506	0.926;0.195	T	0.81649	-0.0837	10	0.48119	T	0.1	.	4.2164	0.10537	0.5591:0.0:0.2929:0.148	.	483;476	D6RAR4;Q04756	.;HGFA_HUMAN	P	476;483	ENSP00000372224:T476P;ENSP00000421801:T483P	ENSP00000372224:T476P	T	+	1	0	HGFAC	3419087	0.000000	0.05858	0.053000	0.19242	0.174000	0.22865	-0.056000	0.11787	-0.111000	0.12001	0.459000	0.35465	ACC		0.647	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			123	256	0	0	0	1	0	123	256					C	3449289	A	C	3449289	3	2	48	1	0	0	0	0	1	0	0	0	7095	275	10	4	1468	4	HGFAC	4	3449289	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	217521	3449289	187704987	1170	5638										
LRPAP1	4043	broad.mit.edu	37	chr4	3517921	3517921	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaatcaccctgggctcctcGaactctgcaggggaggagca	12	13	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:3517921G>A	ENST00000500728.2	-	6	902	c.756C>T	c.(754-756)ttC>ttT	p.F252F	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	252	LDL receptor binding. {ECO:0000255}.				extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TGGGCTCCTCGAACTCTGCAG	0.657																																						ENST00000500728.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14						c.(754-756)ttC>ttT		low density lipoprotein receptor-related protein associated protein 1							38	32	34					4																	3517921		2189	4293	6482	SO:0001819	synonymous_variant	4043				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding	g.chr4:3517921G>A		CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.756C>T	4.37:g.3517921G>A			Somatic				LRPAP1_ENST00000296325.5_5'UTR	p.F252F	NM_002337.3	NP_002328.1	WXS	Illumina GAIIx	Phase_I	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	6	902	-			252			LDL receptor binding (Potential).		D3DVR9|Q2M310|Q53HQ3|Q53HS6	Silent	SNP	ENST00000500728.2	37	c.756C>T	CCDS3371.1																																																																																				0.657	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			3	4	0	0	0	1	0	3	4					A	3517921	G	A	3517921	2	1	48	1	0	0	0	0	0	0	0	1	8973	1049	37	1		1	LRPAP1	4	3517921	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	68632	3517921	187636355	1171	5639										
CYTL1	54360	broad.mit.edu	37	chr4	5018861	5018861	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccccagggagaaccctcttaCgtgtatgtccaggtacagcc	10	14	1	1	rs144723757		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:5018861C>T	ENST00000307746.4	-	2	225		c.e2+1			NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1						cartilage homeostasis (GO:1990079)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|inner ear development (GO:0048839)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		AACCCTCTTACGTGTATGTCC	0.572													C|||	1	0.000199681	0	0.0014	5008	,	,		20010	0		0	False		,,,				2504	0				Colon(15;457 478 29696 43408 47165)	ENST00000307746.4																			0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.e2+1		cytokine-like 1		C		1,4405	2.1+/-5.4	0,1,2202	88	78	81			4.5	1	4	dbSNP_134	81	0,8600		0,0,4300	yes	splice-5	CYTL1	NM_018659.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077			5018861	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	54360				signal transduction	extracellular space|soluble fraction	receptor binding	g.chr4:5018861C>T	AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891			24435	protein-coding gene	gene with protein product		607930				10857752	Standard	NM_018659		Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.198+1G>A	4.37:g.5018861C>T			Somatic						NM_018659.2	NP_061129.1	WXS	Illumina GAIIx	Phase_I	Q9NRR1	CYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	2	225	-									Splice_Site	SNP	ENST00000307746.4	37		CCDS3379.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.01	3.279230	0.59758	2.27E-4	0.0	ENSG00000170891	ENST00000307746;ENST00000509419	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5913	0.56445	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYTL1	5069762	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.659000	0.54489	2.333000	0.79357	0.555000	0.69702	.		0.572	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	NM_018659	Intron	15	30	0	0	0	1	0	15	30					T	5018861	C	T	5018861	5	4	48	1	0	0	0	0	0	0	1	0	4210	550	19	1	223	1	CYTL1	4	5018861	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1500940	5018861	186135415	1172	5640										
EVC2	132884	broad.mit.edu	37	chr4	5564756	5564756	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtacaggggccagttcgccaAtgggctccagtgacaggtgt	15	10	0	1	rs200968626		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:5564756A>T	ENST00000344408.5	-	22	3799	c.3746T>A	c.(3745-3747)aTt>aAt	p.I1249N	EVC2_ENST00000344938.1_Intron|EVC2_ENST00000310917.2_Missense_Mutation_p.I1169N	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1249					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						CAGTTCGCCAATGGGCTCCAG	0.448																																						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.(3505-3507)aTt>aAt		Ellis van Creveld syndrome 2							128	136	133					4																	5564756		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5564756A>T	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3746T>A	4.37:g.5564756A>T	ENSP00000342144:p.Ile1249Asn		Somatic				EVC2_ENST00000344408.5_Missense_Mutation_p.I1249N|EVC2_ENST00000344938.1_Intron	p.I1169N	NM_001166136.1	NP_001159608.1	WXS	Illumina GAIIx	Phase_I	Q86UK5	LBN_HUMAN			22	4237	-			1249					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3506T>A	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	A	9.736	1.163579	0.21538	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.74632	-0.85;-0.86	5.17	1.07	0.20283	.	0.632498	0.15662	N	0.250867	T	0.47135	0.1429	N	0.19112	0.55	0.09310	N	1	P	0.34462	0.454	B	0.27380	0.079	T	0.24190	-1.0167	10	0.15499	T	0.54	-0.0661	2.1295	0.03747	0.5914:0.163:0.0889:0.1567	.	1249	Q86UK5	LBN_HUMAN	N	1169;1249	ENSP00000311683:I1169N;ENSP00000342144:I1249N	ENSP00000311683:I1169N	I	-	2	0	EVC2	5615657	0.001000	0.12720	0.003000	0.11579	0.974000	0.67602	1.411000	0.34702	0.292000	0.22492	0.460000	0.39030	ATT		0.448	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		39	96	0	0	0	1	0	39	96					T	5564756	A	T	5564756	3	4	48	1	0	0	0	0	1	0	0	0	5288	101	4	4	184	4	EVC2	4	5564756	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	545895	5564756	185589520	1173	5641										
C4orf50	389197	broad.mit.edu	37	chr4	5961108	5961108	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatgagtggccctattacatTtctaactccagcggtgattt	8	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:5961108T>G	ENST00000324058.5	-	7	914	c.825A>C	c.(823-825)gaA>gaC	p.E275D	C4orf50_ENST00000531445.1_Missense_Mutation_p.E749D			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	275										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CCTATTACATTTCTAACTCCA	0.448																																						ENST00000531445.1																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						c.(2245-2247)gaA>gaC		chromosome 4 open reading frame 50							105	104	104					4																	5961108		2203	4300	6503	SO:0001583	missense	389197							g.chr4:5961108T>G	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.825A>C	4.37:g.5961108T>G	ENSP00000317287:p.Glu275Asp		Somatic				C4orf50_ENST00000324058.5_Missense_Mutation_p.E275D	p.E749D			WXS	Illumina GAIIx	Phase_I	Q6ZRC1	CD050_HUMAN			7	2293	-			275						Missense_Mutation	SNP	ENST00000324058.5	37	c.2247A>C		.	.	.	.	.	.	.	.	.	.	T	5.358	0.251406	0.10130	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.27890	1.64;1.77	4.5	-2.82	0.05787	.	4.987010	0.01034	U	0.004199	T	0.14700	0.0355	N	0.08118	0	0.09310	N	1	B	0.31655	0.334	B	0.22386	0.039	T	0.18147	-1.0346	10	0.87932	D	0	.	5.1091	0.14800	0.0:0.3662:0.1608:0.473	.	275	Q6ZRC1	CD050_HUMAN	D	749;275	ENSP00000437121:E749D;ENSP00000317287:E275D	ENSP00000317287:E275D	E	-	3	2	C4orf50	6012009	0.003000	0.15002	0.000000	0.03702	0.117000	0.20001	0.771000	0.26633	-0.680000	0.05211	-0.264000	0.10439	GAA		0.448	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		38	61	0	0	0	1	0	38	61					G	5961108	T	G	5961108	3	3	48	1	0	0	0	0	1	0	0	0	2278	1838	64	4	9	4	C4orf50	4	5961108	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	396352	5961108	185193168	1174	5642										
KIAA0232	9778	broad.mit.edu	37	chr4	6843914	6843914	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggctgctgtccagtgtcttCgatctgcttctgatgaagta	11	9	3	2	rs553190523		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:6843914C>T	ENST00000307659.5	+	4	807	c.352C>T	c.(352-354)Cga>Tga	p.R118*	KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.R118*	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	118							ATP binding (GO:0005524)	p.R118*(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CCAGTGTCTTCGATCTGCTTC	0.348																																						ENST00000307659.5																			1	Substitution - Nonsense(1)	p.R118*(1)	large_intestine(1)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(352-354)Cga>Tga		KIAA0232							101	107	105					4																	6843914		1833	4092	5925	SO:0001587	stop_gained	9778						ATP binding	g.chr4:6843914C>T	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.352C>T	4.37:g.6843914C>T	ENSP00000303928:p.Arg118*		Somatic				KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.R118*	p.R118*	NM_014743.2	NP_055558.2	WXS	Illumina GAIIx	Phase_I	Q92628	K0232_HUMAN			4	807	+			118					A7E2D2	Nonsense_Mutation	SNP	ENST00000307659.5	37	c.352C>T	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	C	42	9.516982	0.99193	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.14	5.14	0.70334	.	0.119890	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8053	18.5814	0.91172	0.0:1.0:0.0:0.0	.	.	.	.	X	118	.	ENSP00000303928:R118X	R	+	1	2	KIAA0232	6894815	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	7.278000	0.78587	2.360000	0.80028	0.655000	0.94253	CGA		0.348	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		23	43	0	0	0	1	0	23	43					T	6843914	C	T	6843914	4	4	48	1	0	0	0	0	0	1	0	0	8172	876	31	1	358	1	KIAA0232	4	6843914	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	882806	6843914	184310362	1175	5643										
AFAP1	60312	broad.mit.edu	37	chr4	7844978	7844978	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaccaggtccatggaggccTcctcggagggccactggtgc	15	13	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:7844978T>C	ENST00000360265.4	-	4	668	c.434A>G	c.(433-435)gAg>gGg	p.E145G	AFAP1_ENST00000420658.1_Missense_Mutation_p.E145G|AFAP1_ENST00000382543.3_Missense_Mutation_p.E145G|AFAP1_ENST00000358461.2_Missense_Mutation_p.E145G			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	145						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						CATGGAGGCCTCCTCGGAGGG	0.562																																						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.(433-435)gAg>gGg		actin filament associated protein 1							86	78	81					4																	7844978		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7844978T>C	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.434A>G	4.37:g.7844978T>C	ENSP00000353402:p.Glu145Gly		Somatic				AFAP1_ENST00000382543.3_Missense_Mutation_p.E145G|AFAP1_ENST00000360265.4_Missense_Mutation_p.E145G|AFAP1_ENST00000358461.2_Missense_Mutation_p.E145G	p.E145G	NM_001134647.1	NP_001128119.1	WXS	Illumina GAIIx	Phase_I	Q8N556	AFAP1_HUMAN			5	706	-			145					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.434A>G	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.719332	0.89205	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.986	T	0.19321	-1.0309	10	0.87932	D	0	-34.6298	13.6529	0.62320	0.0:0.0:0.0:1.0	.	145;145	E9PDT7;Q8N556	.;AFAP1_HUMAN	G	145	ENSP00000353402:E145G;ENSP00000410689:E145G;ENSP00000351245:E145G;ENSP00000371983:E145G	ENSP00000351245:E145G	E	-	2	0	AFAP1	7895878	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.415000	0.80131	1.648000	0.50643	0.397000	0.26171	GAG		0.562	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		8	25	0	0	0	1	0	8	25					C	7844978	T	C	7844978	3	2	48	1	0	0	0	0	1	0	0	0	353	1551	54	4	2066	4	AFAP1	4	7844978	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1001064	7844978	183309298	1176	5644										
CPZ	8532	broad.mit.edu	37	chr4	8621305	8621305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggtggtcctacttcacatcGctgagcacccacaggccacg	10	15	1	1	rs139174553	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:8621305G>A	ENST00000360986.4	+	11	2094	c.1920G>A	c.(1918-1920)tcG>tcA	p.S640S	CPZ_ENST00000429646.2_Silent_p.S248S|CPZ_ENST00000382480.2_Silent_p.S503S|CPZ_ENST00000315782.6_Silent_p.S629S	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	640					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACTTCACATCGCTGAGCACCC	0.706													G|||	8	0.00159744	0.0053	0	5008	,	,		13290	0.001		0	False		,,,				2504	0					ENST00000429646.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(742-744)tcG>tcA		carboxypeptidase Z		G	,,	25,4379		0,25,2177	23	23	23		1920,1509,1887	-9.6	0	4	dbSNP_134	23	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	CPZ	NM_001014447.2,NM_001014448.2,NM_003652.3	,,	0,25,6475	AA,AG,GG		0.0,0.5677,0.1923	,,	640/653,503/516,629/642	8621305	25,12975	2202	4298	6500	SO:0001819	synonymous_variant	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8621305G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1920G>A	4.37:g.8621305G>A			Somatic				CPZ_ENST00000382480.2_Silent_p.S503S|CPZ_ENST00000360986.4_Silent_p.S640S|CPZ_ENST00000315782.6_Silent_p.S629S	p.S248S			WXS	Illumina GAIIx	Phase_I	Q66K79	CBPZ_HUMAN			9	3537	+			640					O00520|Q96MX2	Silent	SNP	ENST00000360986.4	37	c.744G>A	CCDS33953.1																																																																																				0.706	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		18	31	0	0	0	1	0	18	31					A	8621305	G	A	8621305	2	1	48	1	0	0	0	0	0	0	0	1	3841	1074	38	1		1	CPZ	4	8621305	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	776327	8621305	182532971	1177	5645										
CLNK	116449	broad.mit.edu	37	chr4	10515153	10515153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttatagggcagtatattttCgtgagggctgcagctggctg	14	6	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:10515153C>T	ENST00000226951.6	-	16	1080	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	CLNK_ENST00000515667.1_Missense_Mutation_p.E19K	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	281					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AGTATATTTTCGTGAGGGCTG	0.473																																					GBM(87;402 1286 6949 13902 35851)	ENST00000226951.6																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						c.(841-843)Gaa>Aaa		cytokine-dependent hematopoietic cell linker							81	77	78					4																	10515153		1946	4153	6099	SO:0001583	missense	116449				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	g.chr4:10515153C>T	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"SH2 domain containing"	17438	protein-coding gene	gene with protein product	"mast cell immunoreceptor signal transducer"	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.841G>A	4.37:g.10515153C>T	ENSP00000226951:p.Glu281Lys		Somatic				CLNK_ENST00000515667.1_Missense_Mutation_p.E19K	p.E281K	NM_052964.2	NP_443196.2	WXS	Illumina GAIIx	Phase_I	Q7Z7G1	CLNK_HUMAN			16	1080	-			281					Q05C27|Q9P2U9	Missense_Mutation	SNP	ENST00000226951.6	37	c.841G>A	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	C	6.390	0.440131	0.12104	.	.	ENSG00000109684	ENST00000226951;ENST00000515667;ENST00000429087	T;T	0.62639	0.01;0.01	4.22	1.48	0.22813	.	1.386890	0.04579	N	0.394576	T	0.42562	0.1208	L	0.27053	0.805	0.09310	N	1	B	0.30033	0.266	B	0.13407	0.009	T	0.15636	-1.0430	10	0.07990	T	0.79	-7.0307	6.7343	0.23401	0.0:0.6952:0.0:0.3048	.	281	Q7Z7G1	CLNK_HUMAN	K	281;19;245	ENSP00000226951:E281K;ENSP00000427256:E19K	ENSP00000226951:E281K	E	-	1	0	CLNK	10124251	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.153000	0.16323	0.289000	0.22422	0.591000	0.81541	GAA		0.473	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964		4	12	0	0	0	1	0	4	12					T	10515153	C	T	10515153	3	4	48	1	0	0	0	0	1	0	0	0	3549	893	31	1	461	1	CLNK	4	10515153	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1893848	10515153	180639123	1178	5646										
BOD1L	259282	broad.mit.edu	37	chr4	13603706	13603706	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttccttagtgcttgtgagGaaggtttcactttcagcaaa	9	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:13603706G>A	ENST00000040738.5	-	10	4953	c.4818C>T	c.(4816-4818)ttC>ttT	p.F1606F		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1606						nucleus (GO:0005634)	DNA binding (GO:0003677)										TGCTTGTGAGGAAGGTTTCAC	0.502																																						ENST00000040738.5																			0											c.(4816-4818)ttC>ttT		biorientation of chromosomes in cell division 1-like 1							73	71	72					4																	13603706		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13603706G>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.4818C>T	4.37:g.13603706G>A			Somatic					p.F1606F	NM_148894.2	NP_683692.2	WXS	Illumina GAIIx	Phase_I	Q8NFC6	BOD1L_HUMAN			10	4953	-			1606					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.4818C>T	CCDS3411.2																																																																																				0.502	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		21	41	0	0	0	1	0	21	41					A	13603706	G	A	13603706	2	1	48	1	0	0	0	0	0	0	0	1	1483	1165	41	3		3	BOD1L	4	13603706	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3088553	13603706	177550570	1179	5647										
BOD1L	259282	broad.mit.edu	37	chr4	13605283	13605283	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcttctcctttggccatttCttgtgacaagcttcctctcc	5	14	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:13605283C>A	ENST00000040738.5	-	10	3376	c.3241G>T	c.(3241-3243)Gaa>Taa	p.E1081*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1081						nucleus (GO:0005634)	DNA binding (GO:0003677)										TTGGCCATTTCTTGTGACAAG	0.418																																						ENST00000040738.5																			0											c.(3241-3243)Gaa>Taa		biorientation of chromosomes in cell division 1-like 1							117	110	112					4																	13605283		2203	4300	6503	SO:0001587	stop_gained	259282						DNA binding	g.chr4:13605283C>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.3241G>T	4.37:g.13605283C>A	ENSP00000040738:p.Glu1081*		Somatic					p.E1081*	NM_148894.2	NP_683692.2	WXS	Illumina GAIIx	Phase_I	Q8NFC6	BOD1L_HUMAN			10	3376	-			1081					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	ENST00000040738.5	37	c.3241G>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	40	8.302654	0.98750	.	.	ENSG00000038219	ENST00000040738	.	.	.	5.53	5.53	0.82687	.	0.125136	0.36778	N	0.002405	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-8.6394	13.0249	0.58808	0.0:0.9228:0.0:0.0772	.	.	.	.	X	1081	.	ENSP00000040738:E1081X	E	-	1	0	BOD1L	13214381	1.000000	0.71417	0.998000	0.56505	0.440000	0.31957	3.499000	0.53310	2.603000	0.88011	0.650000	0.86243	GAA		0.418	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		12	40	1	0	0.000978159	1	0.00102903	12	40					A	13605283	C	A	13605283	4	1	48	1	0	0	0	0	0	1	0	0	1483	922	32	2	5982	2	BOD1L	4	13605283	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1577	13605283	177548993	1180	5648										
BOD1L	259282	broad.mit.edu	37	chr4	13605304	13605304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgtgacaagcttcctctccGattttcgcacaaccttctac	5	14	2	1	rs73231582	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:13605304G>A	ENST00000040738.5	-	10	3355	c.3220C>T	c.(3220-3222)Cgg>Tgg	p.R1074W		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1074						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTTCCTCTCCGATTTTCGCAC	0.418													G|||	3	0.000599042	0	0.0014	5008	,	,		19368	0		0.002	False		,,,				2504	0					ENST00000040738.5																			0											c.(3220-3222)Cgg>Tgg		biorientation of chromosomes in cell division 1-like 1		G	TRP/ARG	5,4401	9.9+/-24.2	0,5,2198	107	104	105		3220	5.5	1	4	dbSNP_130	105	17,8583	11.9+/-42.8	0,17,4283	yes	missense	BOD1L	NM_148894.2	101	0,22,6481	AA,AG,GG		0.1977,0.1135,0.1692	probably-damaging	1074/3052	13605304	22,12984	2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13605304G>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.3220C>T	4.37:g.13605304G>A	ENSP00000040738:p.Arg1074Trp		Somatic					p.R1074W	NM_148894.2	NP_683692.2	WXS	Illumina GAIIx	Phase_I	Q8NFC6	BOD1L_HUMAN			10	3355	-			1074					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.3220C>T	CCDS3411.2	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	G	15.02	2.710004	0.48517	0.001135	0.001977	ENSG00000038219	ENST00000040738	T	0.18016	2.24	5.47	5.47	0.80525	.	0.000000	0.39985	N	0.001220	T	0.38957	0.1060	M	0.66939	2.045	0.36270	D	0.855114	D	0.89917	1.0	D	0.87578	0.998	T	0.44757	-0.9307	10	0.62326	D	0.03	-3.088	12.1887	0.54254	0.0:0.0:0.7844:0.2155	.	1074	Q8NFC6	BOD1L_HUMAN	W	1074	ENSP00000040738:R1074W	ENSP00000040738:R1074W	R	-	1	2	BOD1L	13214402	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	3.576000	0.53878	2.568000	0.86640	0.603000	0.83216	CGG		0.418	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		16	39	0	0	0	1	0	16	39					A	13605304	G	A	13605304	3	1	48	1	0	0	0	0	1	0	0	0	1483	1057	37	1	6003	1	BOD1L	4	13605304	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	21	13605304	177548972	1181	5649										
FBXL5	26234	broad.mit.edu	37	chr4	15642453	15642453	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaagaaaatctcttgtaaaAgcctccaatctctctttcag	6	10	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:15642453A>C	ENST00000341285.3	-	3	478	c.354T>G	c.(352-354)gcT>gcG	p.A118A	FBXL5_ENST00000412094.2_Silent_p.A101A|FBXL5_ENST00000382358.4_5'UTR	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	118	Hemerythrin-like.				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						CTCTTGTAAAAGCCTCCAATC	0.279																																						ENST00000341285.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(352-354)gcT>gcG		F-box and leucine-rich repeat protein 5							74	82	79					4																	15642453		2203	4294	6497	SO:0001819	synonymous_variant	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.chr4:15642453A>C	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.354T>G	4.37:g.15642453A>C			Somatic				FBXL5_ENST00000412094.2_Silent_p.A101A|FBXL5_ENST00000382358.4_5'UTR	p.A118A	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			3	478	-			118			Hemerythrin-like.		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Silent	SNP	ENST00000341285.3	37	c.354T>G	CCDS3415.1																																																																																				0.279	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			7	27	0	0	0	1	0	7	27					C	15642453	A	C	15642453	2	2	48	1	0	0	0	0	0	0	0	1	5730	59	3	4		4	FBXL5	4	15642453	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2037149	15642453	175511823	1182	5650										
FBXL5	26234	broad.mit.edu	37	chr4	15646324	15646324	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttgttggaaaaattggttTtagaaagctgaataaaaatt	9	1	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:15646324T>G	ENST00000341285.3	-	2	216	c.92A>C	c.(91-93)aAa>aCa	p.K31T	FBXL5_ENST00000412094.2_Intron|FBXL5_ENST00000382358.4_5'UTR	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	31	Hemerythrin-like.				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						AAAATTGGTTTTAGAAAGCTG	0.303																																						ENST00000341285.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(91-93)aAa>aCa		F-box and leucine-rich repeat protein 5							36	35	35					4																	15646324		2203	4300	6503	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.chr4:15646324T>G	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.92A>C	4.37:g.15646324T>G	ENSP00000344866:p.Lys31Thr		Somatic				FBXL5_ENST00000412094.2_Intron|FBXL5_ENST00000382358.4_5'UTR	p.K31T	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			2	216	-			31			Hemerythrin-like.		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.92A>C	CCDS3415.1	.	.	.	.	.	.	.	.	.	.	T	9.153	1.016643	0.19355	.	.	ENSG00000118564	ENST00000341285;ENST00000507899	T	0.32023	1.47	5.11	5.11	0.69529	.	0.091438	0.85682	D	0.000000	T	0.18635	0.0447	N	0.04508	-0.205	0.80722	D	1	B	0.30179	0.271	B	0.36845	0.234	T	0.16453	-1.0402	10	0.22706	T	0.39	-19.1005	14.8957	0.70642	0.0:0.0:0.0:1.0	.	31	Q9UKA1	FBXL5_HUMAN	T	31;12	ENSP00000344866:K31T	ENSP00000344866:K31T	K	-	2	0	FBXL5	15255422	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.180000	0.71981	1.905000	0.55150	0.528000	0.53228	AAA		0.303	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			13	12	0	0	0	1	0	13	12					G	15646324	T	G	15646324	3	3	48	1	0	0	0	0	1	0	0	0	5730	1841	64	4	2023	4	FBXL5	4	15646324	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	3871	15646324	175507952	1183	5651										
LAP3	51056	broad.mit.edu	37	chr4	17586709	17586709	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaaccagatttgctgaaatTattgagaagaatctcaaaag	7	7	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:17586709T>G	ENST00000226299.4	+	6	928	c.654T>G	c.(652-654)atT>atG	p.I218M	LAP3_ENST00000606142.1_Missense_Mutation_p.I187M|AC006160.5_ENST00000511010.1_RNA	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	218					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						TTGCTGAAATTATTGAGAAGA	0.473																																						ENST00000226299.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						c.(652-654)atT>atG		leucine aminopeptidase 3							105	104	105					4																	17586709		2203	4300	6503	SO:0001583	missense	51056				proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	g.chr4:17586709T>G	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.654T>G	4.37:g.17586709T>G	ENSP00000226299:p.Ile218Met		Somatic				LAP3_ENST00000606142.1_Missense_Mutation_p.I187M	p.I218M	NM_015907.2	NP_056991.2	WXS	Illumina GAIIx	Phase_I	P28838	AMPL_HUMAN			6	928	+			218					B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Missense_Mutation	SNP	ENST00000226299.4	37	c.654T>G	CCDS3422.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.496490	0.26861	.	.	ENSG00000002549	ENST00000226299;ENST00000513105	T;T	0.44482	0.92;0.93	5.2	-10.4	0.00318	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.238733	0.47455	D	0.000223	T	0.46229	0.1382	L	0.55103	1.725	0.09310	N	0.999999	B	0.24483	0.104	P	0.52598	0.703	T	0.61282	-0.7094	10	0.34782	T	0.22	-17.9114	9.4697	0.38835	0.261:0.5014:0.0:0.2375	.	218	P28838	AMPL_HUMAN	M	218;52	ENSP00000226299:I218M;ENSP00000424724:I52M	ENSP00000226299:I218M	I	+	3	3	LAP3	17195807	0.000000	0.05858	0.011000	0.14972	0.867000	0.49689	-3.190000	0.00565	-2.024000	0.00936	-0.496000	0.04628	ATT		0.473	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			4	106	0	0	0	1	0	4	106					G	17586709	T	G	17586709	3	3	48	1	0	0	0	0	1	0	0	0	8632	1742	61	4	676	4	LAP3	4	17586709	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1940385	17586709	173567567	1184	5652										
DCAF16	54876	broad.mit.edu	37	chr4	17805494	17805494	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagtcttagacctatctctcGaagtatatggactggtgtgc	11	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:17805494G>A	ENST00000382247.1	-	3	1331	c.271C>T	c.(271-273)Cga>Tga	p.R91*	DCAF16_ENST00000507768.1_5'Flank|DCAF16_ENST00000536863.1_Nonsense_Mutation_p.R91*	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	91					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						CCTATCTCTCGAAGTATATGG	0.448																																						ENST00000382247.1																			0				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(271-273)Cga>Tga		DDB1 and CUL4 associated factor 16							93	103	100					4																	17805494		2203	4300	6503	SO:0001587	stop_gained	54876					CUL4 RING ubiquitin ligase complex		g.chr4:17805494G>A	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.271C>T	4.37:g.17805494G>A	ENSP00000371682:p.Arg91*		Somatic				DCAF16_ENST00000536863.1_Nonsense_Mutation_p.R91*	p.R91*	NM_017741.3	NP_060211.3	WXS	Illumina GAIIx	Phase_I	Q9NXF7	DCA16_HUMAN			3	1331	-			91					B3KPB7	Nonsense_Mutation	SNP	ENST00000382247.1	37	c.271C>T	CCDS3423.1	.	.	.	.	.	.	.	.	.	.	G	40	8.192091	0.98699	.	.	ENSG00000163257	ENST00000382247;ENST00000536863	.	.	.	4.03	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.4362	6.5943	0.22664	0.2111:0.0:0.7889:0.0	.	.	.	.	X	91	.	ENSP00000371682:R91X	R	-	1	2	DCAF16	17414592	0.993000	0.37304	0.990000	0.47175	0.039000	0.13416	1.007000	0.29860	0.668000	0.31126	-0.793000	0.03317	CGA		0.448	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250371.1	NM_017741		53	89	0	0	0	1	0	53	89					A	17805494	G	A	17805494	4	1	48	1	0	0	0	0	0	1	0	0	4270	1066	37	1	383	1	DCAF16	4	17805494	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	218785	17805494	173348782	1185	5653										
NCAPG	64151	broad.mit.edu	37	chr4	17824682	17824682	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggaaatttgatgacaaaaGaattcataggtcaacaattg	8	4	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:17824682G>T	ENST00000251496.2	+	8	1371	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	399					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)		GATGACAAAAGAATTCATAGG	0.323																																						ENST00000251496.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1195-1197)Gaa>Taa		non-SMC condensin I complex, subunit G							69	72	71					4																	17824682		2203	4296	6499	SO:0001587	stop_gained	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17824682G>T	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"chromosome condensation protein G"	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.1195G>T	4.37:g.17824682G>T	ENSP00000251496:p.Glu399*		Somatic					p.E399*	NM_022346.3	NP_071741.2	WXS	Illumina GAIIx	Phase_I	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	8	1371	+			399					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Nonsense_Mutation	SNP	ENST00000251496.2	37	c.1195G>T	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	38	6.961512	0.97964	.	.	ENSG00000109805	ENST00000251496	.	.	.	5.12	4.26	0.50523	.	0.154237	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.0949	16.0091	0.80385	0.0:0.1348:0.8652:0.0	.	.	.	.	X	399	.	ENSP00000251496:E399X	E	+	1	0	NCAPG	17433780	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.825000	0.75293	1.493000	0.48517	0.585000	0.79938	GAA		0.323	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		11	22	1	0	0.000673444	1	0.000709932	11	22					T	17824682	G	T	17824682	4	4	48	1	0	0	0	0	0	1	0	0	10216	943	33	2	1225	2	NCAPG	4	17824682	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	19188	17824682	173329594	1186	5654										
SLIT2	9353	broad.mit.edu	37	chr4	20525762	20525762	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgccgcctggcaaacaaaaGaattggacagatcaaaagca	9	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:20525762G>T	ENST00000504154.1	+	14	1652	c.1400G>T	c.(1399-1401)aGa>aTa	p.R467I	SLIT2_ENST00000503837.1_Missense_Mutation_p.R471I|SLIT2_ENST00000273739.5_Missense_Mutation_p.R471I|SLIT2_ENST00000503823.1_Missense_Mutation_p.R467I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	467	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCAAACAAAAGAATTGGACAG	0.478																																						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.(1399-1401)aGa>aTa		slit homolog 2 (Drosophila)							107	122	117					4																	20525762		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20525762G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1400G>T	4.37:g.20525762G>T	ENSP00000422591:p.Arg467Ile		Somatic				SLIT2_ENST00000273739.5_Missense_Mutation_p.R471I|SLIT2_ENST00000503823.1_Missense_Mutation_p.R467I|SLIT2_ENST00000503837.1_Missense_Mutation_p.R471I	p.R467I	NM_004787.1	NP_004778.1	WXS	Illumina GAIIx	Phase_I	O94813	SLIT2_HUMAN			14	1652	+			467			LRRCT 2.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1400G>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	34	5.333198	0.95758	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.81163	-1.46;-1.46;-1.37;-1.44	5.93	5.93	0.95920	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91119	0.7204	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91338	0.5095	10	0.87932	D	0	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	467;467	O94813-3;O94813	.;SLIT2_HUMAN	I	467;467;471;471;471	ENSP00000427548:R467I;ENSP00000422591:R467I;ENSP00000273739:R471I;ENSP00000422261:R471I	ENSP00000273739:R471I	R	+	2	0	SLIT2	20134860	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.805000	0.96524	0.655000	0.94253	AGA		0.478	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			45	124	1	0	5.78141e-17	1	7.72733e-17	45	124					T	20525762	G	T	20525762	3	4	48	1	0	0	0	0	1	0	0	0	14755	942	33	2	1454	2	SLIT2	4	20525762	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2701080	20525762	170628514	1187	5655										
KCNIP4	80333	broad.mit.edu	37	chr4	20734383	20734383	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atttacccatcatatcgtatAttgctttcattatatcaagc	3	9	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:20734383A>C	ENST00000382152.2	-	7	730	c.563T>G	c.(562-564)aTa>aGa	p.I188R	KCNIP4_ENST00000382148.3_Missense_Mutation_p.I163R|KCNIP4_ENST00000447367.2_Missense_Mutation_p.I154R|KCNIP4_ENST00000359001.5_Missense_Mutation_p.I126R|KCNIP4_ENST00000382150.4_Missense_Mutation_p.I167R|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000509207.1_Missense_Mutation_p.I126R	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	188	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CATATCGTATATTGCTTTCAT	0.373																																						ENST00000382148.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(487-489)aTa>aGa		Kv channel interacting protein 4							117	108	111					4																	20734383		2203	4300	6503	SO:0001583	missense	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20734383A>C	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"EF-hand domain containing"	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.563T>G	4.37:g.20734383A>C	ENSP00000371587:p.Ile188Arg		Somatic				KCNIP4_ENST00000382152.2_Missense_Mutation_p.I188R|KCNIP4_ENST00000447367.2_Missense_Mutation_p.I154R|KCNIP4_ENST00000509207.1_Missense_Mutation_p.I126R|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382150.4_Missense_Mutation_p.I167R|KCNIP4_ENST00000359001.5_Missense_Mutation_p.I126R|KCNIP4_ENST00000382149.4_5'UTR	p.I163R	NM_001035003.1	NP_001030175.1	WXS	Illumina GAIIx	Phase_I	Q6PIL6	KCIP4_HUMAN			6	824	-		Breast(46;0.134)	188			EF-hand 3.		Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	c.488T>G	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.542057	0.85917	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.32	5.32	0.75619	EF-hand-like domain (1);	0.134162	0.64402	D	0.000003	D	0.84884	0.5571	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;0.999;0.999;1.0	D	0.88309	0.2955	10	0.87932	D	0	.	15.6302	0.76904	1.0:0.0:0.0:0.0	.	163;167;171;188	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	R	163;154;167;126;188;126;126	ENSP00000371583:I163R;ENSP00000399080:I154R;ENSP00000371585:I167R;ENSP00000371587:I188R;ENSP00000423257:I126R;ENSP00000351892:I126R	ENSP00000351892:I126R	I	-	2	0	KCNIP4	20343481	1.000000	0.71417	0.921000	0.36526	0.976000	0.68499	9.283000	0.95860	2.148000	0.66965	0.456000	0.33151	ATA		0.373	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		9	19	0	0	0	1	0	9	19					C	20734383	A	C	20734383	3	2	48	1	0	0	0	0	1	0	0	0	8051	449	16	4	201	4	KCNIP4	4	20734383	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	208621	20734383	170419893	1188	5656										
KCNIP4	80333	broad.mit.edu	37	chr4	20852208	20852208	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atctgaagctctttcttggtAaatttgctctgggcttccag	9	9	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:20852208A>C	ENST00000382152.2	-	3	413	c.246T>G	c.(244-246)ttT>ttG	p.F82L	KCNIP4_ENST00000382148.3_Missense_Mutation_p.F57L|KCNIP4_ENST00000447367.2_Missense_Mutation_p.F48L|KCNIP4_ENST00000359001.5_Missense_Mutation_p.F20L|KCNIP4_ENST00000382150.4_Missense_Mutation_p.F61L|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000509207.1_Missense_Mutation_p.F20L	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	82	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CTTTCTTGGTAAATTTGCTCT	0.448																																						ENST00000382148.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(169-171)ttT>ttG		Kv channel interacting protein 4							79	83	82					4																	20852208		2203	4300	6503	SO:0001583	missense	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20852208A>C	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"EF-hand domain containing"	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.246T>G	4.37:g.20852208A>C	ENSP00000371587:p.Phe82Leu		Somatic				KCNIP4_ENST00000382152.2_Missense_Mutation_p.F82L|KCNIP4_ENST00000447367.2_Missense_Mutation_p.F48L|KCNIP4_ENST00000509207.1_Missense_Mutation_p.F20L|KCNIP4_ENST00000382150.4_Missense_Mutation_p.F61L|KCNIP4_ENST00000359001.5_Missense_Mutation_p.F20L|KCNIP4_ENST00000382149.4_5'UTR	p.F57L	NM_001035003.1	NP_001030175.1	WXS	Illumina GAIIx	Phase_I	Q6PIL6	KCIP4_HUMAN			2	507	-		Breast(46;0.134)	82					Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	c.171T>G	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.035378	0.75617	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.42	-3.89	0.04193	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71660	0.3366	M	0.90082	3.085	0.54753	D	0.999982	P;P;P;P	0.51057	0.941;0.941;0.941;0.941	B;P;P;B	0.49953	0.399;0.495;0.627;0.413	T	0.80034	-0.1551	10	0.87932	D	0	.	14.8472	0.70270	0.2937:0.0:0.7063:0.0	.	57;61;65;82	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	L	57;48;61;20;82;20;20	ENSP00000371583:F57L;ENSP00000399080:F48L;ENSP00000371585:F61L;ENSP00000371587:F82L;ENSP00000423257:F20L;ENSP00000351892:F20L	ENSP00000351892:F20L	F	-	3	2	KCNIP4	20461306	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	0.929000	0.28844	-0.616000	0.05671	-0.290000	0.09829	TTT		0.448	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		29	47	0	0	0	1	0	29	47					C	20852208	A	C	20852208	3	2	48	1	0	0	0	0	1	0	0	0	8051	359	13	4	534	4	KCNIP4	4	20852208	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	117825	20852208	170302068	1189	5657										
GPR125	166647	broad.mit.edu	37	chr4	22390389	22390389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaatcctgatgatttatttCgccattttcattggctgcca	7	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:22390389C>T	ENST00000334304.5	-	19	3174	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	969					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.E969K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGATTTATTTCGCCATTTTCA	0.438																																						ENST00000334304.5																			1	Substitution - Missense(1)	p.E969K(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2905-2907)Gaa>Aaa		G protein-coupled receptor 125							94	94	94					4																	22390389		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390389C>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.2905G>A	4.37:g.22390389C>T	ENSP00000334952:p.Glu969Lys		Somatic				GPR125_ENST00000282943.5_5'UTR	p.E969K	NM_145290.2	NP_660333.2	WXS	Illumina GAIIx	Phase_I	Q8IWK6	GP125_HUMAN			19	3174	-		Breast(46;0.198)	969					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2905G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	7.267	0.606337	0.14002	.	.	ENSG00000152990	ENST00000334304	T	0.52526	0.66	5.84	5.84	0.93424	GPCR, family 2-like (1);	0.258007	0.44483	D	0.000442	T	0.43875	0.1267	L	0.51422	1.61	0.80722	D	1	P;D	0.57571	0.473;0.98	B;P	0.47044	0.14;0.535	T	0.40021	-0.9585	10	0.02654	T	1	-10.2902	14.3082	0.66397	0.0:0.9292:0.0:0.0708	.	826;969	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	K	969	ENSP00000334952:E969K	ENSP00000334952:E969K	E	-	1	0	GPR125	21999487	0.874000	0.30092	0.165000	0.22776	0.011000	0.07611	2.487000	0.45268	2.751000	0.94390	0.650000	0.86243	GAA		0.438	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			29	43	0	0	0	1	0	29	43					T	22390389	C	T	22390389	3	4	48	1	0	0	0	0	1	0	0	0	6647	893	31	1	1064	1	GPR125	4	22390389	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1538181	22390389	168763887	1190	5658										
PPARGC1A	10891	broad.mit.edu	37	chr4	23815615	23815615	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgaatttataaacataggTagtttggagaattgttcatt	8	4	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:23815615T>C	ENST00000264867.2	-	8	1610	c.1491A>G	c.(1489-1491)ctA>ctG	p.L497L	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	497	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)				TAAACATAGGTAGTTTGGAGA	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.(1489-1491)ctA>ctG		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							133	127	129					4																	23815615		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.chr4:23815615T>C	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1491A>G	4.37:g.23815615T>C			Somatic				PPARGC1A_ENST00000509702.1_5'UTR	p.L497L	NM_013261.3	NP_037393.1	WXS	Illumina GAIIx	Phase_I	Q9UBK2	PRGC1_HUMAN			8	1610	-		Breast(46;0.0503)	497					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.1491A>G	CCDS3429.1																																																																																				0.453	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		34	56	0	0	0	1	0	34	56					C	23815615	T	C	23815615	2	2	48	1	0	0	0	0	0	0	0	1	12309	1625	57	4		4	PPARGC1A	4	23815615	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1425226	23815615	167338661	1191	5659										
ANAPC4	29945	broad.mit.edu	37	chr4	25418156	25418156	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gactcttggtccagctgcctTtgtctttagtatataacagt	8	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:25418156T>C	ENST00000315368.3	+	27	2153	c.2011T>C	c.(2011-2013)Ttg>Ctg	p.L671L	ANAPC4_ENST00000510092.1_Silent_p.L672L	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	671					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)				CCAGCTGCCTTTGTCTTTAGT	0.358																																						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.(2011-2013)Ttg>Ctg		anaphase promoting complex subunit 4							118	112	114					4																	25418156		2203	4300	6503	SO:0001819	synonymous_variant	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25418156T>C	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.2011T>C	4.37:g.25418156T>C			Somatic				ANAPC4_ENST00000510092.1_Silent_p.L672L	p.L671L	NM_013367.2	NP_037499.2	WXS	Illumina GAIIx	Phase_I	Q9UJX5	APC4_HUMAN			27	2153	+		Breast(46;0.0503)	671					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Silent	SNP	ENST00000315368.3	37	c.2011T>C	CCDS3434.1																																																																																				0.358	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		16	43	0	0	0	1	0	16	43					C	25418156	T	C	25418156	2	2	48	1	0	0	0	0	0	0	0	1	604	1838	64	4		4	ANAPC4	4	25418156	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1602541	25418156	165736120	1192	5660										
CCKAR	886	broad.mit.edu	37	chr4	26483533	26483533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgctctgcggaggcggtgtcGtaggcccgccaggcgttggc	18	13	1	0	rs200960240		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:26483533G>A	ENST00000295589.3	-	5	1208	c.1014C>T	c.(1012-1014)taC>taT	p.Y338Y		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	338					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)	p.Y338Y(1)		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)	AGGCGGTGTCGTAGGCCCGCC	0.597																																						ENST00000295589.3																			1	Substitution - coding silent(1)	p.Y338Y(1)	large_intestine(1)	NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(1012-1014)taC>taT		cholecystokinin A receptor	Ceruletide(DB00403)						101	90	94					4																	26483533		2203	4300	6503	SO:0001819	synonymous_variant	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26483533G>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.1014C>T	4.37:g.26483533G>A			Somatic					p.Y338Y	NM_000730.2	NP_000721.1	WXS	Illumina GAIIx	Phase_I	P32238	CCKAR_HUMAN			5	1208	-		Breast(46;0.0503)	338					B2R9Z5	Silent	SNP	ENST00000295589.3	37	c.1014C>T	CCDS3438.1																																																																																				0.597	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			32	73	0	0	0	1	0	32	73					A	26483533	G	A	26483533	2	1	48	1	0	0	0	0	0	0	0	1	2882	1140	40	1		1	CCKAR	4	26483533	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1065377	26483533	164670743	1193	5661										
CCKAR	886	broad.mit.edu	37	chr4	26487334	26487334	+	Missense_Mutation	SNP	G	G	T													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggttgttatttttggtaaaaGgcaccaagttgctataaatg							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:26487334G>T	ENST00000295589.3	-	3	745	c.551C>A	c.(550-552)cCt>cAt	p.P184H		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	184					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)	TTTGGTAAAAGGCACCAAGTT	0.433																																						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.(550-552)cCt>cAt		cholecystokinin A receptor	Ceruletide(DB00403)						121	115	117					4																	26487334		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26487334G>T	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.551C>A	4.37:g.26487334G>T	ENSP00000295589:p.Pro184His		Somatic					p.P184H	NM_000730.2	NP_000721.1	WXS	Illumina GAIIx	Phase_I	P32238	CCKAR_HUMAN			3	745	-		Breast(46;0.0503)	184					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.551C>A	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740438	0.89573	.	.	ENSG00000163394	ENST00000295589	T	0.39056	1.1	5.69	5.69	0.88448	GPCR, rhodopsin-like superfamily (1);	0.054036	0.85682	D	0.000000	T	0.60689	0.2288	L	0.58428	1.81	0.80722	D	1	D	0.64830	0.994	D	0.64687	0.928	T	0.52866	-0.8518	10	0.30854	T	0.27	.	19.8215	0.96599	0.0:0.0:1.0:0.0	.	184	P32238	CCKAR_HUMAN	H	184	ENSP00000295589:P184H	ENSP00000295589:P184H	P	-	2	0	CCKAR	26096432	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.679000	0.91253	0.650000	0.86243	CCT		0.433	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			20	31	1	0	2.4624e-09	1	2.95225e-09	20	31					T	26487334	G	T	26487334	3	4	48	1	0	0	0	0	1	0	0	0	2882	1000	35	5	747	5	CCKAR	4	26487334	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3801	26487334	164666942	1194	5662	16	2								
CCKAR	886	broad.mit.edu	37	chr4	26487340	26487340	+	Missense_Mutation	SNP	A	A	G													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatttttggtaaaaggcaccAagttgctataaatggggtac							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:26487340A>G	ENST00000295589.3	-	3	739	c.545T>C	c.(544-546)tTg>tCg	p.L182S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	182					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)	AAAAGGCACCAAGTTGCTATA	0.458																																						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.(544-546)tTg>tCg		cholecystokinin A receptor	Ceruletide(DB00403)						121	114	117					4																	26487340		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26487340A>G	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.545T>C	4.37:g.26487340A>G	ENSP00000295589:p.Leu182Ser		Somatic					p.L182S	NM_000730.2	NP_000721.1	WXS	Illumina GAIIx	Phase_I	P32238	CCKAR_HUMAN			3	739	-		Breast(46;0.0503)	182					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.545T>C	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.730667	0.89390	.	.	ENSG00000163394	ENST00000295589	T	0.71698	-0.59	5.69	5.69	0.88448	GPCR, rhodopsin-like superfamily (1);	0.070231	0.56097	D	0.000030	D	0.84206	0.5421	M	0.79693	2.465	0.58432	D	0.999999	D	0.67145	0.996	D	0.70227	0.968	D	0.85491	0.1185	10	0.51188	T	0.08	.	15.9584	0.79906	1.0:0.0:0.0:0.0	.	182	P32238	CCKAR_HUMAN	S	182	ENSP00000295589:L182S	ENSP00000295589:L182S	L	-	2	0	CCKAR	26096438	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	8.962000	0.93254	2.165000	0.68154	0.528000	0.53228	TTG		0.458	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			16	34	0	0	0	1	0	16	34					G	26487340	A	G	26487340	3	3	48	1	0	0	0	0	1	0	0	0	2882	131	5	4	753	4	CCKAR	4	26487340	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	6	26487340	164666936	1195	5663	16	2								
STIM2	57620	broad.mit.edu	37	chr4	27003939	27003939	+	Missense_Mutation	SNP	A	A	T													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acgcagaataagacatcaaaAgaacatgttgcaaaaatgat							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:27003939A>T	ENST00000467011.1	+	6	1151	c.726A>T	c.(724-726)aaA>aaT	p.K242N	STIM2_ENST00000467087.1_Missense_Mutation_p.K242N|STIM2_ENST00000465503.1_Missense_Mutation_p.K242N|STIM2_ENST00000412829.2_Missense_Mutation_p.K329N|STIM2_ENST00000382009.3_Missense_Mutation_p.K329N|STIM2_ENST00000237364.5_Missense_Mutation_p.K329N	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	242					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AGACATCAAAAGAACATGTTG	0.373																																						ENST00000382009.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(985-987)aaA>aaT		stromal interaction molecule 2							91	89	90					4																	27003939		2203	4299	6502	SO:0001583	missense	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27003939A>T	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"Sterile alpha motif (SAM) domain containing"	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.726A>T	4.37:g.27003939A>T	ENSP00000419383:p.Lys242Asn		Somatic				STIM2_ENST00000412829.2_Missense_Mutation_p.K329N|STIM2_ENST00000467087.1_Missense_Mutation_p.K242N|STIM2_ENST00000465503.1_Missense_Mutation_p.K242N|STIM2_ENST00000467011.1_Missense_Mutation_p.K242N|STIM2_ENST00000237364.5_Missense_Mutation_p.K329N	p.K329N	NM_001169118.1	NP_001162589.1	WXS	Illumina GAIIx	Phase_I	Q9P246	STIM2_HUMAN			6	1254	+		Breast(46;0.0503)	242					A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467011.1	37	c.987A>T	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.929931	0.73327	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503	T;T;T;T;T;T	0.80214	-1.33;-1.34;-1.35;-1.33;-1.34;-1.32	5.5	4.33	0.51752	.	0.045710	0.85682	D	0.000000	D	0.82912	0.5140	M	0.63428	1.95	0.58432	D	0.999998	D;D;D	0.63880	0.993;0.993;0.989	P;P;P	0.55923	0.738;0.617;0.787	T	0.81409	-0.0946	9	.	.	.	.	8.2364	0.31629	0.8448:0.0:0.1552:0.0	.	329;329;329	A6H8L7;E9PGD0;F5GXJ4	.;.;.	N	242;329;329;242;329;242	ENSP00000419073:K242N;ENSP00000371439:K329N;ENSP00000237364:K329N;ENSP00000419383:K242N;ENSP00000404812:K329N;ENSP00000417569:K242N	.	K	+	3	2	STIM2	26613037	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.322000	0.43814	1.054000	0.40438	0.528000	0.53228	AAA		0.373	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		10	25	0	0	0	1	0	10	25					T	27003939	A	T	27003939	3	4	48	1	0	0	0	0	1	0	0	0	15299	69	3	4	748	4	STIM2	4	27003939	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	516599	27003939	164150337	1196	5664	17	2								
STIM2	57620	broad.mit.edu	37	chr4	27003940	27003940	+	Nonsense_Mutation	SNP	G	G	T													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgcagaataagacatcaaaaGaacatgttgcaaaaatgatg							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:27003940G>T	ENST00000467011.1	+	6	1152	c.727G>T	c.(727-729)Gaa>Taa	p.E243*	STIM2_ENST00000467087.1_Nonsense_Mutation_p.E243*|STIM2_ENST00000465503.1_Nonsense_Mutation_p.E243*|STIM2_ENST00000412829.2_Nonsense_Mutation_p.E330*|STIM2_ENST00000382009.3_Nonsense_Mutation_p.E330*|STIM2_ENST00000237364.5_Nonsense_Mutation_p.E330*	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	243					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)	p.E330*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				GACATCAAAAGAACATGTTGC	0.373																																						ENST00000382009.3																			1	Substitution - Nonsense(1)	p.E330*(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(988-990)Gaa>Taa		stromal interaction molecule 2							92	89	90					4																	27003940		2203	4299	6502	SO:0001587	stop_gained	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27003940G>T	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"Sterile alpha motif (SAM) domain containing"	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.727G>T	4.37:g.27003940G>T	ENSP00000419383:p.Glu243*		Somatic				STIM2_ENST00000412829.2_Nonsense_Mutation_p.E330*|STIM2_ENST00000467087.1_Nonsense_Mutation_p.E243*|STIM2_ENST00000465503.1_Nonsense_Mutation_p.E243*|STIM2_ENST00000467011.1_Nonsense_Mutation_p.E243*|STIM2_ENST00000237364.5_Nonsense_Mutation_p.E330*	p.E330*	NM_001169118.1	NP_001162589.1	WXS	Illumina GAIIx	Phase_I	Q9P246	STIM2_HUMAN			6	1255	+		Breast(46;0.0503)	243					A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Nonsense_Mutation	SNP	ENST00000467011.1	37	c.988G>T	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	G	40	8.195741	0.98701	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503	.	.	.	5.5	5.5	0.81552	.	0.104865	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.782	0.96420	0.0:0.0:1.0:0.0	.	.	.	.	X	243;330;330;243;330;243	.	.	E	+	1	0	STIM2	26613038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.548000	0.60718	2.765000	0.95021	0.650000	0.86243	GAA		0.373	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		16	18	1	0	3.45872e-05	1	3.78815e-05	16	18					T	27003940	G	T	27003940	4	4	48	1	0	0	0	0	0	1	0	0	15299	943	33	2	749	2	STIM2	4	27003940	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1	27003940	164150336	1197	5665	17	2								
PGM2	55276	broad.mit.edu	37	chr4	37831647	37831647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggtaataaagaagaactacGaaaatgttttggggcccgaa	11	5	0	2	rs201598002		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:37831647G>A	ENST00000381967.4	+	2	243	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	PGM2_ENST00000537241.1_5'UTR|PGM2_ENST00000544359.1_5'UTR	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	48					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						GAAGAACTACGAAAATGTTTT	0.433													G|||	1	0.000199681	8e-04	0	5008	,	,		13966	0		0	False		,,,				2504	0					ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(142-144)cGa>cAa		phosphoglucomutase 2		G	GLN/ARG	0,4406		0,0,2203	77	80	79		143	3.2	0	4		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	PGM2	NM_018290.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	48/613	37831647	1,13005	2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37831647G>A	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"phosphopentomutase"	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.143G>A	4.37:g.37831647G>A	ENSP00000371393:p.Arg48Gln		Somatic				PGM2_ENST00000537241.1_5'UTR|PGM2_ENST00000544359.1_5'UTR	p.R48Q	NM_018290.3	NP_060760.2	WXS	Illumina GAIIx	Phase_I	Q96G03	PGM2_HUMAN			2	243	+			48					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.143G>A	CCDS3443.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.416	-0.910791	0.02434	0.0	1.16E-4	ENSG00000169299	ENST00000381967	T	0.49432	0.78	5.64	3.16	0.36331	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.455201	0.25961	N	0.027195	T	0.22244	0.0536	N	0.04018	-0.295	0.19300	N	0.999979	B	0.02656	0.0	B	0.04013	0.001	T	0.16689	-1.0394	10	0.23891	T	0.37	-3.096	8.1613	0.31201	0.7693:0.0:0.2307:0.0	.	48	Q96G03	PGM2_HUMAN	Q	48	ENSP00000371393:R48Q	ENSP00000371393:R48Q	R	+	2	0	PGM2	37508042	0.284000	0.24287	0.002000	0.10522	0.030000	0.12068	2.270000	0.43355	0.392000	0.25172	-0.312000	0.09012	CGA		0.433	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		22	27	0	0	0	1	0	22	27					A	37831647	G	A	37831647	3	1	48	1	0	0	0	0	1	0	0	0	11807	1058	37	1	149	1	PGM2	4	37831647	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	10827707	37831647	153322629	1198	5666										
PGM2	55276	broad.mit.edu	37	chr4	37851855	37851855	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttatctgccatgatcaagAaaccattaagaaattatttg	5	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:37851855A>G	ENST00000381967.4	+	12	1563	c.1463A>G	c.(1462-1464)gAa>gGa	p.E488G	PGM2_ENST00000537241.1_Missense_Mutation_p.E328G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	488			E -> D (in dbSNP:rs10001580).		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						CATGATCAAGAAACCATTAAG	0.313																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(1462-1464)gAa>gGa		phosphoglucomutase 2							50	54	53					4																	37851855		2203	4299	6502	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37851855A>G	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.1463A>G	4.37:g.37851855A>G	ENSP00000371393:p.Glu488Gly		Somatic				PGM2_ENST00000537241.1_Missense_Mutation_p.E328G	p.E488G	NM_018290.3	NP_060760.2	WXS	Illumina GAIIx	Phase_I	Q96G03	PGM2_HUMAN			12	1563	+			488		E -> D (in dbSNP:rs10001580).			B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.1463A>G	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	A	6.410	0.443791	0.12164	.	.	ENSG00000169299	ENST00000381967;ENST00000537241	T;T	0.33654	1.4;1.4	5.53	-4.99	0.03010	.	0.730444	0.14278	N	0.329683	T	0.24044	0.0582	L	0.39898	1.24	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.15350	-1.0440	10	0.31617	T	0.26	-7.1835	11.3245	0.49440	0.7641:0.1127:0.1233:0.0	.	488	Q96G03	PGM2_HUMAN	G	488;328	ENSP00000371393:E488G;ENSP00000437342:E328G	ENSP00000371393:E488G	E	+	2	0	PGM2	37528250	0.059000	0.20769	0.010000	0.14722	0.578000	0.36192	0.413000	0.21148	-0.901000	0.03891	-0.321000	0.08615	GAA		0.313	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		5	15	0	0	0	1	0	5	15					G	37851855	A	G	37851855	3	3	48	1	0	0	0	0	1	0	0	0	11807	246	9	4	1509	4	PGM2	4	37851855	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	20208	37851855	153302421	1199	5667										
TBC1D1	23216	broad.mit.edu	37	chr4	38046077	38046077	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaaaacaaagcaaagagatCtttaacagagtctttagaaa	7	5	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:38046077C>A	ENST00000261439.4	+	9	1863	c.1508C>A	c.(1507-1509)tCt>tAt	p.S503Y	TBC1D1_ENST00000508802.1_Missense_Mutation_p.S503Y	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	503					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						GCAAAGAGATCTTTAACAGAG	0.368																																						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.(1507-1509)tCt>tAt		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							113	111	112					4																	38046077		2203	4300	6503	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:38046077C>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.1508C>A	4.37:g.38046077C>A	ENSP00000261439:p.Ser503Tyr		Somatic				TBC1D1_ENST00000508802.1_Missense_Mutation_p.S503Y	p.S503Y	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			9	1863	+			503					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.1508C>A	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374854	0.82573	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803	T;T;T	0.70282	2.69;-0.47;-0.47	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000018	D	0.85932	0.5812	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.996;0.999	D	0.86626	0.1882	10	0.87932	D	0	-18.2262	19.8936	0.96942	0.0:1.0:0.0:0.0	.	503;503;235;503	B9A6J6;E9PGH8;Q6PJJ8;Q86TI0	.;.;.;TBCD1_HUMAN	Y	503;503;374	ENSP00000423651:S503Y;ENSP00000261439:S503Y;ENSP00000396877:S374Y	ENSP00000261439:S503Y	S	+	2	0	TBC1D1	37722472	0.998000	0.40836	0.983000	0.44433	0.926000	0.56050	4.983000	0.63832	2.793000	0.96121	0.655000	0.94253	TCT		0.368	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		20	50	1	0	1.15919e-05	1	1.28007e-05	20	50					A	38046077	C	A	38046077	3	1	48	1	0	0	0	0	1	0	0	0	15612	913	32	2	1538	2	TBC1D1	4	38046077	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	194222	38046077	153108199	1200	5668										
TLR10	81793	broad.mit.edu	37	chr4	38775278	38775278	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attcattcttcacccacagaGaatcatgttcactgtatgaa	5	10	5	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:38775278G>T	ENST00000308973.4	-	4	2539	c.1934C>A	c.(1933-1935)tCt>tAt	p.S645Y	TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000361424.2_Missense_Mutation_p.S645Y|TLR10_ENST00000508334.1_Missense_Mutation_p.S645Y|TLR10_ENST00000506111.1_Missense_Mutation_p.S645Y	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	645	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CACCCACAGAGAATCATGTTC	0.403																																						ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(1933-1935)tCt>tAt		toll-like receptor 10							112	108	109					4																	38775278		2203	4300	6503	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38775278G>T	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"CD molecules"	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1934C>A	4.37:g.38775278G>T	ENSP00000308925:p.Ser645Tyr		Somatic				TLR10_ENST00000361424.2_Missense_Mutation_p.S645Y|TLR10_ENST00000508334.1_Missense_Mutation_p.S645Y|TLR10_ENST00000506111.1_Missense_Mutation_p.S645Y	p.S645Y	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	WXS	Illumina GAIIx	Phase_I	Q9BXR5	TLR10_HUMAN			4	2539	-			645			TIR.		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.1934C>A	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867885	0.51588	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	5.41	5.41	0.78517	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.131175	0.33875	N	0.004480	T	0.32971	0.0847	M	0.79475	2.455	0.42367	D	0.992433	D	0.89917	1.0	D	0.91635	0.999	T	0.06232	-1.0838	10	0.87932	D	0	.	19.2127	0.93763	0.0:0.0:1.0:0.0	.	645	Q9BXR5	TLR10_HUMAN	Y	645	ENSP00000308925:S645Y;ENSP00000421483:S645Y;ENSP00000354459:S645Y;ENSP00000424923:S645Y	ENSP00000308925:S645Y	S	-	2	0	TLR10	38451673	0.956000	0.32656	0.981000	0.43875	0.785000	0.44390	3.287000	0.51732	2.537000	0.85549	0.650000	0.86243	TCT		0.403	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			16	24	1	0	0.000422831	1	0.000449533	16	24					T	38775278	G	T	38775278	3	4	48	1	0	0	0	0	1	0	0	0	15965	942	33	2	505	2	TLR10	4	38775278	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	729201	38775278	152378998	1201	5669										
TLR6	10333	broad.mit.edu	37	chr4	38829644	38829644	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atccaggaaggtcagttaaaGaattgaaagcaacattgagt	10	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:38829644G>T	ENST00000381950.1	-	1	1516	c.1451C>A	c.(1450-1452)tCt>tAt	p.S484Y	TLR6_ENST00000436693.2_Missense_Mutation_p.S484Y			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	484					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCAGTTAAAGAATTGAAAGC	0.408																																						ENST00000436693.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1450-1452)tCt>tAt		toll-like receptor 6							71	79	76					4																	38829644		2203	4297	6500	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38829644G>T		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1451C>A	4.37:g.38829644G>T	ENSP00000371376:p.Ser484Tyr		Somatic				TLR6_ENST00000381950.1_Missense_Mutation_p.S484Y	p.S484Y	NM_006068.4	NP_006059.2	WXS	Illumina GAIIx	Phase_I	Q9Y2C9	TLR6_HUMAN			2	1570	-			484					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.1451C>A	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	G	6.598	0.478731	0.12521	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.60672	0.17;0.17	4.97	-1.12	0.09808	.	0.586313	0.16613	N	0.206825	T	0.36193	0.0958	L	0.29908	0.895	0.09310	N	0.999997	B	0.09022	0.002	B	0.24394	0.053	T	0.20405	-1.0276	10	0.48119	T	0.1	.	0.4701	0.00530	0.3588:0.1838:0.248:0.2094	.	484	Q9Y2C9	TLR6_HUMAN	Y	484	ENSP00000389600:S484Y;ENSP00000371376:S484Y	ENSP00000371376:S484Y	S	-	2	0	TLR6	38506039	0.000000	0.05858	0.138000	0.22173	0.958000	0.62258	-0.187000	0.09656	-0.101000	0.12219	0.484000	0.47621	TCT		0.408	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			38	55	1	0	3.21399e-22	1	4.46229e-22	38	55					T	38829644	G	T	38829644	3	4	48	1	0	0	0	0	1	0	0	0	15970	942	33	2	943	2	TLR6	4	38829644	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	54366	38829644	152324632	1202	5670										
TLR6	10333	broad.mit.edu	37	chr4	38829734	38829734	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattgctgtgaagatcaagtAccttgatcctgggaggtaaa	11	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:38829734A>G	ENST00000381950.1	-	1	1426	c.1361T>C	c.(1360-1362)gTa>gCa	p.V454A	TLR6_ENST00000436693.2_Missense_Mutation_p.V454A			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	454					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGATCAAGTACCTTGATCCT	0.363																																						ENST00000436693.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1360-1362)gTa>gCa		toll-like receptor 6							121	133	129					4																	38829734		2203	4300	6503	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38829734A>G		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1361T>C	4.37:g.38829734A>G	ENSP00000371376:p.Val454Ala		Somatic				TLR6_ENST00000381950.1_Missense_Mutation_p.V454A	p.V454A	NM_006068.4	NP_006059.2	WXS	Illumina GAIIx	Phase_I	Q9Y2C9	TLR6_HUMAN			2	1480	-			454					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.1361T>C	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.114611	0.37339	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.57907	0.37;0.37	5.14	5.14	0.70334	.	0.198128	0.34067	N	0.004290	T	0.49729	0.1574	L	0.42581	1.335	0.19575	N	0.999965	P	0.38250	0.624	B	0.43155	0.41	T	0.51748	-0.8666	10	0.66056	D	0.02	.	10.7184	0.46026	0.8572:0.0:0.0:0.1428	.	454	Q9Y2C9	TLR6_HUMAN	A	454	ENSP00000389600:V454A;ENSP00000371376:V454A	ENSP00000371376:V454A	V	-	2	0	TLR6	38506129	0.000000	0.05858	0.978000	0.43139	0.812000	0.45895	0.745000	0.26259	1.936000	0.56123	0.397000	0.26171	GTA		0.363	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			38	56	0	0	0	1	0	38	56					G	38829734	A	G	38829734	3	3	48	1	0	0	0	0	1	0	0	0	15970	391	14	4	1033	4	TLR6	4	38829734	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	90	38829734	152324542	1203	5671										
RFC1	5981	broad.mit.edu	37	chr4	39313115	39313115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttcttgcctggcatagtccGaatcagattcaacaggccat	8	11	3	1	rs367742770		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:39313115G>A	ENST00000381897.1	-	12	1571	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W	RFC1_ENST00000349703.2_Missense_Mutation_p.R480W	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	480	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCATAGTCCGAATCAGATTC	0.363																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1438-1440)Cgg>Tgg		replication factor C (activator 1) 1, 145kDa		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	120	112	115		1438,1438	3.9	1	4		115	0,8600		0,0,4300	no	missense,missense	RFC1	NM_001204747.1,NM_002913.4	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	480/1149,480/1148	39313115	1,13005	2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39313115G>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1438C>T	4.37:g.39313115G>A	ENSP00000371321:p.Arg480Trp		Somatic				RFC1_ENST00000349703.2_Missense_Mutation_p.R480W	p.R480W	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	WXS	Illumina GAIIx	Phase_I	P35251	RFC1_HUMAN			12	1571	-			480			BRCT.		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.1438C>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188567	0.78789	2.27E-4	0.0	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000504554	T;T;T	0.45668	0.89;0.89;0.89	5.71	3.89	0.44902	BRCT (3);	0.055874	0.64402	D	0.000001	T	0.68412	0.2998	M	0.87269	2.87	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.988;0.997	T	0.76380	-0.2980	10	0.87932	D	0	-1.6137	14.9305	0.70911	0.0:0.0:0.7398:0.2601	.	480;480	P35251;P35251-2	RFC1_HUMAN;.	W	480;480;112	ENSP00000371321:R480W;ENSP00000261424:R480W;ENSP00000422129:R112W	ENSP00000261424:R480W	R	-	1	2	RFC1	38989510	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.392000	0.52537	1.385000	0.46445	0.655000	0.94253	CGG		0.363	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		15	19	0	0	0	1	0	15	19					A	39313115	G	A	39313115	3	1	48	1	0	0	0	0	1	0	0	0	13259	1057	37	1	2061	1	RFC1	4	39313115	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	483381	39313115	151841161	1204	5672										
LIMCH1	22998	broad.mit.edu	37	chr4	41621302	41621302	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggacttcccatggtgagccGaaatcagcagtgccttttaa	10	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:41621302G>A	ENST00000313860.7	+	8	834	c.780G>A	c.(778-780)ccG>ccA	p.P260P	LIMCH1_ENST00000381753.4_Silent_p.P106P|LIMCH1_ENST00000503057.1_Silent_p.P101P|LIMCH1_ENST00000396595.3_Silent_p.P106P|LIMCH1_ENST00000511496.1_Silent_p.P101P|LIMCH1_ENST00000512820.1_Silent_p.P260P|LIMCH1_ENST00000512632.1_Silent_p.P260P|LIMCH1_ENST00000508501.1_Silent_p.P260P|LIMCH1_ENST00000514096.1_Silent_p.P113P|LIMCH1_ENST00000512946.1_Silent_p.P260P|LIMCH1_ENST00000513024.1_Silent_p.P101P|LIMCH1_ENST00000509277.1_Silent_p.P106P|LIMCH1_ENST00000509454.1_Silent_p.P108P|LIMCH1_ENST00000509638.1_Silent_p.P101P	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	260					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						ATGGTGAGCCGAAATCAGCAG	0.532																																						ENST00000313860.7																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(778-780)ccG>ccA		LIM and calponin homology domains 1							145	147	147					4																	41621302		2203	4300	6503	SO:0001819	synonymous_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41621302G>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.780G>A	4.37:g.41621302G>A			Somatic				LIMCH1_ENST00000503057.1_Silent_p.P101P|LIMCH1_ENST00000509277.1_Silent_p.P106P|LIMCH1_ENST00000514096.1_Silent_p.P113P|LIMCH1_ENST00000396595.3_Silent_p.P106P|LIMCH1_ENST00000508501.1_Silent_p.P260P|LIMCH1_ENST00000509638.1_Silent_p.P101P|LIMCH1_ENST00000381753.4_Silent_p.P106P|LIMCH1_ENST00000513024.1_Silent_p.P101P|LIMCH1_ENST00000509454.1_Silent_p.P108P|LIMCH1_ENST00000512632.1_Silent_p.P260P|LIMCH1_ENST00000511496.1_Silent_p.P101P|LIMCH1_ENST00000512946.1_Silent_p.P260P|LIMCH1_ENST00000512820.1_Silent_p.P260P	p.P260P	NM_014988.2	NP_055803.2	WXS	Illumina GAIIx	Phase_I	Q9UPQ0	LIMC1_HUMAN			8	834	+			260					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Silent	SNP	ENST00000313860.7	37	c.780G>A	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	G	0.649	-0.810366	0.02798	.	.	ENSG00000064042	ENST00000508466	.	.	.	5.59	-5.45	0.02616	.	.	.	.	.	T	0.47875	0.1469	.	.	.	0.48288	D	0.999625	.	.	.	.	.	.	T	0.47959	-0.9076	4	.	.	.	-7.0308	6.9268	0.24419	0.24:0.5269:0.1479:0.0853	.	.	.	.	Q	95	.	.	R	+	2	0	LIMCH1	41316059	0.764000	0.28473	0.357000	0.25798	0.013000	0.08279	-0.170000	0.09897	-1.069000	0.03153	-0.300000	0.09419	CGA		0.532	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		97	148	0	0	0	1	0	97	148					A	41621302	G	A	41621302	2	1	48	1	0	0	0	0	0	0	0	1	8806	1045	37	1		1	LIMCH1	4	41621302	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2308187	41621302	149532974	1205	5673										
LIMCH1	22998	broad.mit.edu	37	chr4	41691559	41691559	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctaggtctataagtggaaaGaagctgtgctcttcctgtgg	12	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:41691559G>T	ENST00000313860.7	+	25	3084	c.3030G>T	c.(3028-3030)aaG>aaT	p.K1010N	LIMCH1_ENST00000381753.4_Missense_Mutation_p.K817N|LIMCH1_ENST00000503057.1_Missense_Mutation_p.K1394N|LIMCH1_ENST00000396595.3_Missense_Mutation_p.K829N|LIMCH1_ENST00000511496.1_Missense_Mutation_p.K824N|LIMCH1_ENST00000512820.1_Missense_Mutation_p.K996N|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000512632.1_Missense_Mutation_p.K907N|LIMCH1_ENST00000508501.1_Missense_Mutation_p.K983N|LIMCH1_ENST00000514096.1_Missense_Mutation_p.K824N|LIMCH1_ENST00000512946.1_Missense_Mutation_p.K984N|LIMCH1_ENST00000513024.1_Missense_Mutation_p.K837N|LIMCH1_ENST00000509277.1_Missense_Mutation_p.K843N	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	1010					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						TAAGTGGAAAGAAGCTGTGCT	0.388																																						ENST00000313860.7																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(3028-3030)aaG>aaT		LIM and calponin homology domains 1							132	126	128					4																	41691559		2203	4300	6503	SO:0001583	missense	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41691559G>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.3030G>T	4.37:g.41691559G>T	ENSP00000316891:p.Lys1010Asn		Somatic				LIMCH1_ENST00000503057.1_Missense_Mutation_p.K1394N|LIMCH1_ENST00000509277.1_Missense_Mutation_p.K843N|LIMCH1_ENST00000514096.1_Missense_Mutation_p.K824N|LIMCH1_ENST00000396595.3_Missense_Mutation_p.K829N|LIMCH1_ENST00000508501.1_Missense_Mutation_p.K983N|LIMCH1_ENST00000381753.4_Missense_Mutation_p.K817N|LIMCH1_ENST00000513024.1_Missense_Mutation_p.K837N|LIMCH1_ENST00000512632.1_Missense_Mutation_p.K907N|LIMCH1_ENST00000511496.1_Missense_Mutation_p.K824N|LIMCH1_ENST00000512946.1_Missense_Mutation_p.K984N|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000512820.1_Missense_Mutation_p.K996N	p.K1010N	NM_014988.2	NP_055803.2	WXS	Illumina GAIIx	Phase_I	Q9UPQ0	LIMC1_HUMAN			25	3084	+			1010					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	c.3030G>T	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.68|15.68	2.903834|2.903834	0.52333|0.52333	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405|ENST00000508466	T;T;T;T;T;T;T;T;T;T;T;T|.	0.57273|.	0.54;1.16;1.16;0.98;0.53;1.11;0.41;0.58;0.57;0.45;0.58;0.58|.	4.86|4.86	4.86|4.86	0.63082|0.63082	Zinc finger, LIM-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64951|0.64951	0.2645|0.2645	M|M	0.62088|0.62088	1.915|1.915	0.80722|0.80722	D|D	1|1	D;P;B;D;P;P;D;B;P;B;B;B|.	0.76494|.	0.999;0.905;0.413;0.999;0.578;0.578;0.99;0.031;0.935;0.278;0.399;0.413|.	D;P;B;D;P;P;P;B;P;P;P;B|.	0.80764|.	0.993;0.723;0.178;0.994;0.704;0.704;0.854;0.11;0.646;0.458;0.659;0.178|.	T|T	0.63368|0.63368	-0.6653|-0.6653	10|5	0.87932|.	D|.	0|.	-29.9937|-29.9937	11.6899|11.6899	0.51510|0.51510	0.0808:0.0:0.9192:0.0|0.0808:0.0:0.9192:0.0	.|.	824;760;843;907;817;829;1394;837;996;983;984;1010|.	E7EPK0;B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0|.	.;.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN|.	N|I	837;983;984;1010;907;996;1394;824;1393;824;843;829;817;336|844	ENSP00000425222:K837N;ENSP00000424825:K983N;ENSP00000424645:K984N;ENSP00000316891:K1010N;ENSP00000427045:K907N;ENSP00000424437:K996N;ENSP00000425631:K1394N;ENSP00000421242:K824N;ENSP00000426334:K824N;ENSP00000422864:K843N;ENSP00000379840:K829N;ENSP00000371172:K817N|.	ENSP00000316891:K1010N|.	K|R	+|+	3|2	2|0	LIMCH1|LIMCH1	41386316|41386316	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.845000|0.845000	0.48019|0.48019	2.658000|2.658000	0.46733|0.46733	2.549000|2.549000	0.85964|0.85964	0.558000|0.558000	0.71614|0.71614	AAG|AGA		0.388	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		6	26	1	0	0.0215528	1	0.0219788	6	26					T	41691559	G	T	41691559	3	4	48	1	0	0	0	0	1	0	0	0	8806	933	33	2	3156	2	LIMCH1	4	41691559	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	70257	41691559	149462717	1206	5674										
DCAF4L1	285429	broad.mit.edu	37	chr4	41984734	41984734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctaaatgtgtaaggcagtacGaaggtcacgtgaatgagtcc	12	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:41984734G>A	ENST00000333141.5	+	1	1022	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	309										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						AAGGCAGTACGAAGGTCACGT	0.532																																						ENST00000333141.5																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(925-927)Gaa>Aaa		DDB1 and CUL4 associated factor 4-like 1							141	107	119					4																	41984734		2203	4300	6503	SO:0001583	missense	285429							g.chr4:41984734G>A	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"WD repeat domain containing"	27723	protein-coding gene	gene with protein product			"WD repeat domain 21B"	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.925G>A	4.37:g.41984734G>A	ENSP00000327796:p.Glu309Lys		Somatic					p.E309K	NM_001029955.3	NP_001025126.2	WXS	Illumina GAIIx	Phase_I	Q3SXM0	DC4L1_HUMAN			1	1022	+			309					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	c.925G>A	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747997	0.30955	.	.	ENSG00000182308	ENST00000333141	T	0.20881	2.04	0.97	0.97	0.19692	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.108661	0.64402	N	0.000003	T	0.10380	0.0254	L	0.37750	1.13	0.37780	D	0.926993	B	0.25007	0.116	B	0.04013	0.001	T	0.14392	-1.0474	10	0.10902	T	0.67	.	3.297	0.06970	0.3004:0.0:0.6995:0.0	.	309	Q3SXM0	DC4L1_HUMAN	K	309	ENSP00000327796:E309K	ENSP00000327796:E309K	E	+	1	0	DCAF4L1	41679491	1.000000	0.71417	0.015000	0.15790	0.165000	0.22458	0.595000	0.24029	0.821000	0.34540	0.313000	0.20887	GAA		0.532	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		40	81	0	0	0	1	0	40	81					A	41984734	G	A	41984734	3	1	48	1	0	0	0	0	1	0	0	0	4273	1059	37	1	927	1	DCAF4L1	4	41984734	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	293175	41984734	149169542	1207	5675										
SLC30A9	10463	broad.mit.edu	37	chr4	42024887	42024887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acttcgaaaaatcagacgacGaagtccccatgaagatactg	8	10	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:42024887G>A	ENST00000264451.7	+	5	647	c.467G>A	c.(466-468)cGa>cAa	p.R156Q		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	156					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						ATCAGACGACGAAGTCCCCAT	0.328																																						ENST00000264451.6																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(466-468)cGa>cAa		solute carrier family 30 (zinc transporter), member 9							87	93	91					4																	42024887		2203	4299	6502	SO:0001583	missense	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.chr4:42024887G>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.467G>A	4.37:g.42024887G>A	ENSP00000264451:p.Arg156Gln		Somatic					p.R156Q	NM_006345.3	NP_006336.3	WXS	Illumina GAIIx	Phase_I	Q6PML9	ZNT9_HUMAN			5	647	+			156					Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP	ENST00000264451.7	37	c.467G>A	CCDS3465.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219741	0.95139	.	.	ENSG00000014824	ENST00000264451	T	0.56611	0.45	5.72	4.88	0.63580	DNA binding domain, putative (1);	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.75199	-0.3402	10	0.87932	D	0	-12.3593	14.8238	0.70094	0.0692:0.0:0.9308:0.0	.	156	Q6PML9	ZNT9_HUMAN	Q	156	ENSP00000264451:R156Q	ENSP00000264451:R156Q	R	+	2	0	SLC30A9	41719644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.291000	0.96070	1.425000	0.47237	0.555000	0.69702	CGA		0.328	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3			15	25	0	0	0	1	0	15	25					A	42024887	G	A	42024887	3	1	48	1	0	0	0	0	1	0	0	0	14577	1058	37	1	485	1	SLC30A9	4	42024887	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	40153	42024887	149129389	1208	5676										
GRXCR1	389207	broad.mit.edu	37	chr4	43032511	43032511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaagccctgaagtgtacggCttgcaatgaaaatggtcttc	10	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:43032511C>T	ENST00000399770.2	+	4	827	c.827C>T	c.(826-828)gCt>gTt	p.A276V		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	276					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						AAGTGTACGGCTTGCAATGAA	0.443																																						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.(826-828)gCt>gTt		glutaredoxin, cysteine rich 1							165	155	158					4																	43032511		1908	4127	6035	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.chr4:43032511C>T		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.827C>T	4.37:g.43032511C>T	ENSP00000382670:p.Ala276Val		Somatic					p.A276V	NM_001080476.2	NP_001073945.1	WXS	Illumina GAIIx	Phase_I	A8MXD5	GRCR1_HUMAN			4	827	+			276						Missense_Mutation	SNP	ENST00000399770.2	37	c.827C>T	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086426	0.76642	.	.	ENSG00000215203	ENST00000399770	T	0.23754	1.89	5.64	5.64	0.86602	.	0.193827	0.35040	U	0.003481	T	0.28034	0.0691	L	0.29908	0.895	0.53688	D	0.999978	P	0.46987	0.888	P	0.47102	0.537	T	0.00773	-1.1572	10	0.30078	T	0.28	-14.3572	18.6692	0.91504	0.0:1.0:0.0:0.0	.	276	A8MXD5	GRCR1_HUMAN	V	276	ENSP00000382670:A276V	ENSP00000382670:A276V	A	+	2	0	GRXCR1	42727268	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	5.729000	0.68538	2.649000	0.89929	0.579000	0.79373	GCT		0.443	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		49	73	0	0	0	1	0	49	73					T	43032511	C	T	43032511	3	4	48	1	0	0	0	0	1	0	0	0	6821	797	28	3	841	3	GRXCR1	4	43032511	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1007624	43032511	148121765	1209	5677										
KCTD8	386617	broad.mit.edu	37	chr4	44176933	44176933	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttcttccacacttagcttCtcacagactttctttttgga	4	12	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:44176933C>T	ENST00000360029.3	-	2	1579	c.1296G>A	c.(1294-1296)gaG>gaA	p.E432E		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	432					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						CACTTAGCTTCTCACAGACTT	0.413										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.(1294-1296)gaG>gaA		potassium channel tetramerization domain containing 8							191	199	197					4																	44176933		2203	4300	6503	SO:0001819	synonymous_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44176933C>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.1296G>A	4.37:g.44176933C>T		HNSCC(17;0.042)	Somatic					p.E432E	NM_198353.2	NP_938167.1	WXS	Illumina GAIIx	Phase_I	Q6ZWB6	KCTD8_HUMAN			2	1579	-			432					A2RU39	Silent	SNP	ENST00000360029.3	37	c.1296G>A	CCDS3467.1																																																																																				0.413	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			71	125	0	0	0	1	0	71	125					T	44176933	C	T	44176933	2	4	48	1	0	0	0	0	0	0	0	1	8124	912	32	3		3	KCTD8	4	44176933	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1144422	44176933	146977343	1210	5678										
GABRA4	2557	broad.mit.edu	37	chr4	46995427	46995427	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagcgatcgcgggtaccttCttggcagaaaccatctttgc	11	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:46995427C>A	ENST00000264318.3	-	1	997	c.15G>T	c.(13-15)aaG>aaT	p.K5N	GABRA4_ENST00000509316.1_5'UTR	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	5					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)	CGGGTACCTTCTTGGCAGAAA	0.602																																					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.(13-15)aaG>aaT		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						103	93	96					4																	46995427		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.chr4:46995427C>A		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.15G>T	4.37:g.46995427C>A	ENSP00000264318:p.Lys5Asn		Somatic				GABRA4_ENST00000509316.1_5'UTR	p.K5N	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			1	997	-			5					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.15G>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.722789	0.48728	.	.	ENSG00000109158	ENST00000264318	T	0.81078	-1.45	4.72	3.86	0.44501	.	0.781112	0.11881	N	0.520480	T	0.72187	0.3429	.	.	.	0.32318	N	0.562803	B	0.06786	0.001	B	0.04013	0.001	T	0.70498	-0.4855	9	0.39692	T	0.17	.	10.6191	0.45470	0.0:0.8051:0.1949:0.0	.	5	P48169	GBRA4_HUMAN	N	5	ENSP00000264318:K5N	ENSP00000264318:K5N	K	-	3	2	GABRA4	46690184	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.495000	0.60353	1.167000	0.42706	0.585000	0.79938	AAG		0.602	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			28	50	1	0	9.39395e-14	1	1.21013e-13	28	50					A	46995427	C	A	46995427	3	1	48	1	0	0	0	0	1	0	0	0	6171	912	32	2	1685	2	GABRA4	4	46995427	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2818494	46995427	144158849	1211	5679										
CORIN	10699	broad.mit.edu	37	chr4	47655594	47655594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttttcctcatcactgtcatCgtcacagtcggcctggccat	8	14	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:47655594C>T	ENST00000273857.4	-	13	1818	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	CORIN_ENST00000502252.1_Missense_Mutation_p.D540N|CORIN_ENST00000508498.1_Missense_Mutation_p.D468N|CORIN_ENST00000504584.1_Missense_Mutation_p.D570N|CORIN_ENST00000505909.1_Missense_Mutation_p.D570N	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	607	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCACTGTCATCGTCACAGTCG	0.393																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(1819-1821)Gat>Aat		corin, serine peptidase							140	126	130					4																	47655594		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47655594C>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1819G>A	4.37:g.47655594C>T	ENSP00000273857:p.Asp607Asn		Somatic				CORIN_ENST00000508498.1_Missense_Mutation_p.D468N|CORIN_ENST00000504584.1_Missense_Mutation_p.D570N|CORIN_ENST00000505909.1_Missense_Mutation_p.D570N|CORIN_ENST00000502252.1_Missense_Mutation_p.D540N	p.D607N	NM_006587.2	NP_006578.2	WXS	Illumina GAIIx	Phase_I	Q9Y5Q5	CORIN_HUMAN			13	1818	-			607			LDL-receptor class A 5.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1819G>A	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129576	0.94473	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36;-4.36	5.37	5.37	0.77165	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	M	0.84219	2.685	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	0.99239	1.0884	10	0.72032	D	0.01	.	19.3052	0.94158	0.0:1.0:0.0:0.0	.	570;540;607	B4E2W9;B4E1Y7;Q9Y5Q5	.;.;CORIN_HUMAN	N	607;468;540;570;570	ENSP00000273857:D607N;ENSP00000425597:D468N;ENSP00000424212:D540N;ENSP00000425401:D570N;ENSP00000423216:D570N	ENSP00000273857:D607N	D	-	1	0	CORIN	47350351	1.000000	0.71417	0.996000	0.52242	0.774000	0.43823	7.239000	0.78182	2.793000	0.96121	0.591000	0.81541	GAT		0.393	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			4	53	0	0	0	1	0	4	53					T	47655594	C	T	47655594	3	4	48	1	0	0	0	0	1	0	0	0	3754	884	31	1	1349	1	CORIN	4	47655594	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	660167	47655594	143498682	1212	5680										
CNGA1	1259	broad.mit.edu	37	chr4	47939204	47939204	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccacaggtagtcaaaccatTtaataaccctcttttccata	3	12	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:47939204T>G	ENST00000514170.1	-	11	1626	c.1307A>C	c.(1306-1308)aAa>aCa	p.K436T	CNGA1_ENST00000420489.2_Missense_Mutation_p.K436T|CNGA1_ENST00000358519.4_Missense_Mutation_p.K436T|CNGA1_ENST00000402813.3_Missense_Mutation_p.K505T|CNGA1_ENST00000544810.1_Missense_Mutation_p.K436T			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	436					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						GTCAAACCATTTAATAACCCT	0.348																																						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.(1513-1515)aAa>aCa		cyclic nucleotide gated channel alpha 1							133	128	130					4																	47939204		1858	4098	5956	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47939204T>G	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.1307A>C	4.37:g.47939204T>G	ENSP00000426862:p.Lys436Thr		Somatic				CNGA1_ENST00000514170.1_Missense_Mutation_p.K436T|CNGA1_ENST00000544810.1_Missense_Mutation_p.K436T|CNGA1_ENST00000420489.2_Missense_Mutation_p.K436T|CNGA1_ENST00000358519.4_Missense_Mutation_p.K436T	p.K505T			WXS	Illumina GAIIx	Phase_I	P29973	CNGA1_HUMAN			10	1656	-			436					A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.1514A>C	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.779200	0.31502	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21;-4.21	5.22	4.03	0.46877	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.92525	0.7626	L	0.58669	1.825	0.52501	D	0.99995	P;P	0.35077	0.483;0.483	B;B	0.20384	0.029;0.029	D	0.88911	0.3359	10	0.22706	T	0.39	.	10.7954	0.46457	0.0:0.0744:0.0:0.9256	.	436;436	Q4W5E3;P29973	.;CNGA1_HUMAN	T	505;436;436;436;436	ENSP00000384264:K505T;ENSP00000426862:K436T;ENSP00000443401:K436T;ENSP00000351320:K436T;ENSP00000389881:K436T	ENSP00000351320:K436T	K	-	2	0	CNGA1	47633961	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.698000	0.84413	0.827000	0.34685	0.402000	0.26972	AAA		0.348	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		9	82	0	0	0	1	0	9	82					G	47939204	T	G	47939204	3	3	48	1	0	0	0	0	1	0	0	0	3598	1841	64	4	769	4	CNGA1	4	47939204	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	283610	47939204	143215072	1213	5681										
TEC	7006	broad.mit.edu	37	chr4	48139468	48139468	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcttcacattcaactagttCatctattgtgcgcagcagat	6	10	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:48139468C>A	ENST00000381501.3	-	18	2018	c.1861G>T	c.(1861-1863)Gaa>Taa	p.E621*		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	621	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TCAACTAGTTCATCTATTGTG	0.433																																						ENST00000381501.3																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(1861-1863)Gaa>Taa		tec protein tyrosine kinase							129	121	123					4																	48139468		2203	4300	6503	SO:0001587	stop_gained	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48139468C>A	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1861G>T	4.37:g.48139468C>A	ENSP00000370912:p.Glu621*		Somatic					p.E621*	NM_003215.2	NP_003206.2	WXS	Illumina GAIIx	Phase_I	P42680	TEC_HUMAN			18	2018	-			621			Protein kinase.		B7ZKZ6|Q3MIS5	Nonsense_Mutation	SNP	ENST00000381501.3	37	c.1861G>T	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808419	0.70797	.	.	ENSG00000135605	ENST00000381501	.	.	.	5.25	4.35	0.52113	.	0.177383	0.36665	N	0.002474	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	9.3762	0.38283	0.1606:0.6838:0.1556:0.0	.	.	.	.	X	621	.	ENSP00000370912:E621X	E	-	1	0	TEC	47834225	1.000000	0.71417	0.999000	0.59377	0.087000	0.18053	2.016000	0.40971	2.441000	0.82636	0.591000	0.81541	GAA		0.433	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			18	25	1	0	9.16793e-09	1	1.08598e-08	18	25					A	48139468	C	A	48139468	4	1	48	1	0	0	0	0	0	1	0	0	15757	835	29	2	38	2	TEC	4	48139468	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	200264	48139468	143014808	1214	5682										
TEC	7006	broad.mit.edu	37	chr4	48178116	48178116	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacctgaaatggatacttatTttgacagggaatgacaccat	8	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:48178116T>G	ENST00000381501.3	-	3	383	c.226A>C	c.(226-228)Aat>Cat	p.N76H		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	76	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GGATACTTATTTTGACAGGGA	0.378																																						ENST00000381501.3																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(226-228)Aat>Cat		tec protein tyrosine kinase							196	175	182					4																	48178116		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48178116T>G	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.226A>C	4.37:g.48178116T>G	ENSP00000370912:p.Asn76His		Somatic					p.N76H	NM_003215.2	NP_003206.2	WXS	Illumina GAIIx	Phase_I	P42680	TEC_HUMAN			3	383	-			76			PH.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.226A>C	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.047057	0.36085	.	.	ENSG00000135605	ENST00000381501	T	0.75477	-0.94	5.51	5.51	0.81932	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.055362	0.64402	D	0.000002	T	0.72350	0.3449	L	0.31664	0.95	0.41810	D	0.989964	D	0.54772	0.968	P	0.57620	0.824	T	0.68842	-0.5302	10	0.20046	T	0.44	.	10.8011	0.46489	0.1413:0.0:0.0:0.8587	.	76	P42680	TEC_HUMAN	H	76	ENSP00000370912:N76H	ENSP00000370912:N76H	N	-	1	0	TEC	47872873	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	4.811000	0.62606	2.084000	0.62774	0.523000	0.50628	AAT		0.378	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			19	37	0	0	0	1	0	19	37					G	48178116	T	G	48178116	3	3	48	1	0	0	0	0	1	0	0	0	15757	1841	64	4	1733	4	TEC	4	48178116	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	38648	48178116	142976160	1215	5683										
SPATA18	132671	broad.mit.edu	37	chr4	52948557	52948557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtatattgaaaacagatacCgccgcagctacgactcggat	9	10	0	2	rs184617860	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:52948557C>T	ENST00000295213.4	+	10	1734	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	SPATA18_ENST00000419395.2_Missense_Mutation_p.R422C	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	454					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)			AAACAGATACCGCCGCAGCTA	0.413													C|||	20	0.00399361	0	0	5008	,	,		17992	0.0149		0.001	False		,,,				2504	0.0041					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.(1360-1362)Cgc>Tgc		spermatogenesis associated 18							133	123	127					4																	52948557		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.chr4:52948557C>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1360C>T	4.37:g.52948557C>T	ENSP00000295213:p.Arg454Cys		Somatic				SPATA18_ENST00000419395.2_Missense_Mutation_p.R422C	p.R454C	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)		10	1734	+			454					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1360C>T	CCDS3489.1	5	0.0022893772893772895	0	0.0	0	0.0	4	0.006993006993006993	1	0.0013192612137203166	C	29.6	5.022484	0.93462	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.39056	1.1;1.12	6.08	6.08	0.98989	.	0.048927	0.85682	D	0.000000	T	0.58221	0.2107	M	0.69823	2.125	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.054	D;D;B	0.91635	0.999;0.999;0.017	T	0.62623	-0.6815	10	0.62326	D	0.03	-18.5297	18.1573	0.89696	0.0:1.0:0.0:0.0	.	422;454;454	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	C	454;422	ENSP00000295213:R454C;ENSP00000415309:R422C	ENSP00000295213:R454C	R	+	1	0	SPATA18	52643314	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.293000	0.51779	2.894000	0.99253	0.655000	0.94253	CGC		0.413	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		22	63	0	0	0	1	0	22	63					T	52948557	C	T	52948557	3	4	48	1	0	0	0	0	1	0	0	0	15018	652	23	1	1398	1	SPATA18	4	52948557	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4770441	52948557	138205719	1216	5684										
GSX2	170825	broad.mit.edu	37	chr4	54967832	54967832	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aactcctggagctggagagaGaattctcttccaacatgtac	9	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:54967832G>T	ENST00000326902.2	+	2	972	c.658G>T	c.(658-660)Gaa>Taa	p.E220*	AC110298.1_ENST00000408292.1_RNA|GSX2_ENST00000548609.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	220					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)			GCTGGAGAGAGAATTCTCTTC	0.552																																						ENST00000326902.2																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(658-660)Gaa>Taa		GS homeobox 2							107	113	111					4																	54967832		2203	4300	6503	SO:0001587	stop_gained	170825					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:54967832G>T		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.658G>T	4.37:g.54967832G>T	ENSP00000319118:p.Glu220*		Somatic				FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR	p.E220*	NM_133267.2	NP_573574.1	WXS	Illumina GAIIx	Phase_I	Q9BZM3	GSX2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		2	972	+	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		220						Nonsense_Mutation	SNP	ENST00000326902.2	37	c.658G>T	CCDS3494.1	.	.	.	.	.	.	.	.	.	.	G	39	7.903303	0.98554	.	.	ENSG00000180613	ENST00000326902	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2636	0.90044	0.0:0.0:1.0:0.0	.	.	.	.	X	220	.	ENSP00000319118:E220X	E	+	1	0	GSX2	54662589	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.657000	0.98554	2.535000	0.85469	0.484000	0.47621	GAA		0.552	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1	NM_133267		26	116	1	0	8.24728e-16	1	1.09065e-15	26	116					T	54967832	G	T	54967832	4	4	48	1	0	0	0	0	0	1	0	0	6859	943	33	2	664	2	GSX2	4	54967832	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2019275	54967832	136186444	1217	5685										
KIT	3815	broad.mit.edu	37	chr4	55561832	55561832	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttgagatcctggatgaaacGaatgagaataagcagaatga	11	4	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55561832G>A	ENST00000288135.5	+	2	319	c.222G>A	c.(220-222)acG>acA	p.T74T		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	74	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T74T(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGATGAAACGAATGAGAATA	0.458		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		1	Substitution - coding silent(1)	p.T74T(1)	large_intestine(1)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(220-222)acG>acA		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						108	100	103					4																	55561832		2203	4300	6503	SO:0001819	synonymous_variant	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55561832G>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.222G>A	4.37:g.55561832G>A			Somatic					p.T74T	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	WXS	Illumina GAIIx	Phase_I	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	2	319	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		74			Ig-like C2-type 1.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	c.222G>A	CCDS3496.1																																																																																				0.458	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			26	35	0	0	0	1	0	26	35					A	55561832	G	A	55561832	2	1	48	1	0	0	0	0	0	0	0	1	8338	1045	37	1		1	KIT	4	55561832	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	594000	55561832	135592444	1218	5686										
KIT	3815	broad.mit.edu	37	chr4	55594177	55594177	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgcatgtttccaattttagCgagtgcccatttgacagaac	8	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55594177C>T	ENST00000288135.5	+	13	1977	c.1880C>T	c.(1879-1881)cCg>cTg	p.P627L		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	627	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P627L(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAATTTTAGCGAGTGCCCAT	0.433		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		1	Substitution - Missense(1)	p.P627L(1)	soft_tissue(1)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.e13-1		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						145	134	137					4																	55594177		2203	4300	6503	SO:0001630	splice_region_variant	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55594177C>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1880-1C>T	4.37:g.55594177C>T			Somatic					p.P627_splice	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	WXS	Illumina GAIIx	Phase_I	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	13	1977	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		627			Protein kinase.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Splice_Site	SNP	ENST00000288135.5	37	c.1879_splice	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903525	0.72754	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.82711	-1.64;-1.64	6.06	5.22	0.72569	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	0.000013	D	0.82314	0.5010	N	0.13327	0.33	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.999	P;P;D	0.66084	0.818;0.898;0.941	T	0.81947	-0.0700	9	.	.	.	.	15.2169	0.73274	0.0:0.933:0.0:0.067	.	134;623;627	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	L	627;623	ENSP00000288135:P627L;ENSP00000390987:P623L	.	P	+	2	0	KIT	55288934	1.000000	0.71417	0.997000	0.53966	0.170000	0.22686	7.743000	0.85020	1.576000	0.49790	0.655000	0.94253	CCG		0.433	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		Missense_Mutation	23	48	0	0	0	1	0	23	48					T	55594177	C	T	55594177	5	4	48	1	0	0	0	0	0	0	1	0	8338	782	27	1	1930	1	KIT	4	55594177	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	32345	55594177	135560099	1219	5687										
KIT	3815	broad.mit.edu	37	chr4	55602731	55602731	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtatacacgtttgaaagtgAcgtctggtcctatgggattt	11	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55602731A>G	ENST00000288135.5	+	18	2649	c.2552A>G	c.(2551-2553)gAc>gGc	p.D851G		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	851	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTGAAAGTGACGTCTGGTCC	0.408		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"Mis, O"	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"L, M, O, E"		"GIST, epithelioma"	"GIST, AML, TGCT, mastocytosis, mucosal melanoma"		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(2551-2553)gAc>gGc		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						175	173	174					4																	55602731		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55602731A>G	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2552A>G	4.37:g.55602731A>G	ENSP00000288135:p.Asp851Gly		Somatic					p.D851G	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	WXS	Illumina GAIIx	Phase_I	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	18	2649	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		851			Protein kinase.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.2552A>G	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.616471	0.66672	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.98531	-4.98;-4.98	5.7	5.7	0.88788	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	0.000011	D	0.99217	0.9728	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.992	D	0.99146	1.0857	10	0.87932	D	0	.	15.9745	0.80049	1.0:0.0:0.0:0.0	.	847;851	P10721-2;P10721	.;KIT_HUMAN	G	851;847	ENSP00000288135:D851G;ENSP00000390987:D847G	ENSP00000288135:D851G	D	+	2	0	KIT	55297488	1.000000	0.71417	0.611000	0.29010	0.217000	0.24651	9.190000	0.94934	2.168000	0.68352	0.533000	0.62120	GAC		0.408	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			29	72	0	0	0	1	0	29	72					G	55602731	A	G	55602731	3	3	48	1	0	0	0	0	1	0	0	0	8338	275	10	4	2622	4	KIT	4	55602731	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	8554	55602731	135551545	1220	5688										
KDR	3791	broad.mit.edu	37	chr4	55946184	55946184	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgctaccggtttgcactccaAtctctatcagctttaaaagt	6	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55946184A>C	ENST00000263923.4	-	30	4290	c.3995T>G	c.(3994-3996)aTt>aGt	p.I1332S	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)	1332					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)	TTGCACTCCAATCTCTATCAG	0.522			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.(3994-3996)aTt>aGt		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						223	208	213					4																	55946184		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.chr4:55946184A>C	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.3995T>G	4.37:g.55946184A>C	ENSP00000263923:p.Ile1332Ser	TSP Lung(20;0.16)	Somatic				RP11-530I17.1_ENST00000511222.1_RNA	p.I1332S	NM_002253.2	NP_002244.1	WXS	Illumina GAIIx	Phase_I	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		30	4290	-	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)		1332					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3995T>G	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.959381	0.00465	.	.	ENSG00000128052	ENST00000263923	T	0.74842	-0.88	5.62	-5.41	0.02648	.	1.661580	0.03138	N	0.166149	T	0.46054	0.1373	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45644	-0.9247	10	0.09590	T	0.72	.	8.2607	0.31783	0.1604:0.1165:0.6186:0.1045	.	1332	P35968	VGFR2_HUMAN	S	1332	ENSP00000263923:I1332S	ENSP00000263923:I1332S	I	-	2	0	KDR	55640941	0.970000	0.33590	0.009000	0.14445	0.002000	0.02628	0.533000	0.23082	-0.539000	0.06273	-1.007000	0.02485	ATT		0.522	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			44	82	0	0	0	1	0	44	82					C	55946184	A	C	55946184	3	2	48	1	0	0	0	0	1	0	0	0	8148	101	4	4	79	4	KDR	4	55946184	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	343453	55946184	135208092	1221	5689										
KDR	3791	broad.mit.edu	37	chr4	55968605	55968605	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcccagatgccgtgcatgaGacttcgatgctttccccaat	8	13	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55968605G>T	ENST00000263923.4	-	14	2353	c.2058C>A	c.(2056-2058)gtC>gtA	p.V686V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	686	Ig-like C2-type 7.				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)	CCGTGCATGAGACTTCGATGC	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.(2056-2058)gtC>gtA		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						192	163	173					4																	55968605		2203	4300	6503	SO:0001819	synonymous_variant	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55968605G>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.2058C>A	4.37:g.55968605G>T		TSP Lung(20;0.16)	Somatic					p.V686V	NM_002253.2	NP_002244.1	WXS	Illumina GAIIx	Phase_I	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		14	2353	-	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)		686			Ig-like C2-type 7.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	37	c.2058C>A	CCDS3497.1																																																																																				0.453	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			28	64	1	0	9.22233e-05	1	9.98021e-05	28	64					T	55968605	G	T	55968605	2	4	48	1	0	0	0	0	0	0	0	1	8148	929	33	2		2	KDR	4	55968605	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	22421	55968605	135185671	1222	5690										
SRD5A3	79644	broad.mit.edu	37	chr4	56230296	56230296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtatttctgtggctgcacagCttacgaagactcttcgagtg	11	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56230296C>T	ENST00000264228.4	+	3	648	c.420C>T	c.(418-420)agC>agT	p.S140S	SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	140					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	GGCTGCACAGCTTACGAAGAC	0.468																																						ENST00000264228.4																			0				cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12						c.(418-420)agC>agT		steroid 5 alpha-reductase 3							255	211	226					4																	56230296		2203	4300	6503	SO:0001819	synonymous_variant	79644				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:56230296C>T	AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.420C>T	4.37:g.56230296C>T			Somatic				SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000433175.2_RNA	p.S140S	NM_024592.4	NP_078868.1	WXS	Illumina GAIIx	Phase_I	Q9H8P0	PORED_HUMAN	Epithelial(7;0.0179)		3	648	+	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		140					Q4W5Q6	Silent	SNP	ENST00000264228.4	37	c.420C>T	CCDS3498.1																																																																																				0.468	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	NM_024592		42	77	0	0	0	1	0	42	77					T	56230296	C	T	56230296	2	4	48	1	0	0	0	0	0	0	0	1	15155	796	28	3		3	SRD5A3	4	56230296	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	261691	56230296	134923980	1223	5691										
SRD5A3	79644	broad.mit.edu	37	chr4	56233805	56233805	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagcacggtggttccatattCttgggatgatgatgttcatc	11	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56233805C>A	ENST00000264228.4	+	4	841	c.613C>A	c.(613-615)Ctt>Att	p.L205I	SRD5A3_ENST00000514398.1_Intron|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000609500.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	205					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	GTTCCATATTCTTGGGATGAT	0.408																																						ENST00000264228.4																			0				cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12						c.(613-615)Ctt>Att		steroid 5 alpha-reductase 3							198	170	179					4																	56233805		2203	4300	6503	SO:0001583	missense	79644				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:56233805C>A	AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.613C>A	4.37:g.56233805C>A	ENSP00000264228:p.Leu205Ile		Somatic				SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3_ENST00000514398.1_Intron|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA	p.L205I	NM_024592.4	NP_078868.1	WXS	Illumina GAIIx	Phase_I	Q9H8P0	PORED_HUMAN	Epithelial(7;0.0179)		4	841	+	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		205					Q4W5Q6	Missense_Mutation	SNP	ENST00000264228.4	37	c.613C>A	CCDS3498.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483227	0.44147	.	.	ENSG00000128039	ENST00000264228	T	0.29142	1.58	6.07	5.23	0.72850	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (1);	0.296851	0.34223	N	0.004155	T	0.21881	0.0527	N	0.17723	0.515	0.45307	D	0.998307	P	0.34724	0.465	B	0.38225	0.268	T	0.03587	-1.1022	10	0.09843	T	0.71	-18.4008	14.7117	0.69238	0.0:0.9289:0.0:0.0711	.	205	Q9H8P0	PORED_HUMAN	I	205	ENSP00000264228:L205I	ENSP00000264228:L205I	L	+	1	0	SRD5A3	55928562	0.998000	0.40836	0.995000	0.50966	0.152000	0.21847	0.863000	0.27913	1.550000	0.49438	0.655000	0.94253	CTT		0.408	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	NM_024592		23	42	1	0	2.21704e-12	1	2.79328e-12	23	42					A	56233805	C	A	56233805	3	1	48	1	0	0	0	0	1	0	0	0	15155	913	32	2	627	2	SRD5A3	4	56233805	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3509	56233805	134920471	1224	5692										
EXOC1	55763	broad.mit.edu	37	chr4	56730415	56730415	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaatcctgaatttgatttacActttgaaaaaatatataaat	3	4	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56730415A>G	ENST00000381295.2	+	4	626	c.278A>G	c.(277-279)cAc>cGc	p.H93R	EXOC1_ENST00000349598.6_Missense_Mutation_p.H93R|EXOC1_ENST00000346134.7_Missense_Mutation_p.H93R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	93					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)					TTTGATTTACACTTTGAAAAA	0.289																																						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.(277-279)cAc>cGc		exocyst complex component 1							20	21	21					4																	56730415		2199	4294	6493	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56730415A>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.278A>G	4.37:g.56730415A>G	ENSP00000370695:p.His93Arg		Somatic				EXOC1_ENST00000346134.7_Missense_Mutation_p.H93R|EXOC1_ENST00000349598.6_Missense_Mutation_p.H93R	p.H93R	NM_001024924.1	NP_001020095.1	WXS	Illumina GAIIx	Phase_I	Q9NV70	EXOC1_HUMAN			4	626	+	Glioma(25;0.08)|all_neural(26;0.101)		93					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.278A>G	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739221	0.49045	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.04	5.04	0.67666	.	0.049180	0.85682	D	0.000000	T	0.55081	0.1898	L	0.41824	1.3	0.58432	D	0.999999	B;B	0.26195	0.144;0.007	B;B	0.30782	0.12;0.02	T	0.51490	-0.8699	9	0.25106	T	0.35	.	15.0607	0.71951	1.0:0.0:0.0:0.0	.	93;93	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	R	93	.	ENSP00000326514:H93R	H	+	2	0	EXOC1	56425172	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	8.910000	0.92685	2.026000	0.59711	0.455000	0.32223	CAC		0.289	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		7	7	0	0	0	1	0	7	7					G	56730415	A	G	56730415	3	3	48	1	0	0	0	0	1	0	0	0	5303	159	6	4	288	4	EXOC1	4	56730415	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	496610	56730415	134423861	1225	5693										
EXOC1	55763	broad.mit.edu	37	chr4	56738059	56738059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacagcaacagcagcgattcAgtgatttgcgagagcttttt	10	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56738059A>G	ENST00000381295.2	+	8	1357	c.1009A>G	c.(1009-1011)Agt>Ggt	p.S337G	EXOC1_ENST00000349598.6_Missense_Mutation_p.S337G|EXOC1_ENST00000346134.7_Missense_Mutation_p.S337G	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	337					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)					GCAGCGATTCAGTGATTTGCG	0.413																																						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.(1009-1011)Agt>Ggt		exocyst complex component 1							96	96	96					4																	56738059		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56738059A>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.1009A>G	4.37:g.56738059A>G	ENSP00000370695:p.Ser337Gly		Somatic				EXOC1_ENST00000346134.7_Missense_Mutation_p.S337G|EXOC1_ENST00000349598.6_Missense_Mutation_p.S337G	p.S337G	NM_001024924.1	NP_001020095.1	WXS	Illumina GAIIx	Phase_I	Q9NV70	EXOC1_HUMAN			8	1357	+	Glioma(25;0.08)|all_neural(26;0.101)		337					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.1009A>G	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	A	6.528	0.465579	0.12402	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	6.06	0.932	0.19466	.	0.519860	0.24530	N	0.037739	T	0.51736	0.1692	L	0.47716	1.5	0.42382	D	0.992495	B;B	0.13594	0.008;0.0	B;B	0.18561	0.022;0.0	T	0.46414	-0.9193	9	0.45353	T	0.12	.	10.4599	0.44572	0.6829:0.0:0.3171:0.0	.	337;337	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	G	337	.	ENSP00000326514:S337G	S	+	1	0	EXOC1	56432816	0.087000	0.21565	0.564000	0.28396	0.002000	0.02628	0.529000	0.23019	0.170000	0.19704	-0.263000	0.10527	AGT		0.413	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		25	45	0	0	0	1	0	25	45					G	56738059	A	G	56738059	3	3	48	1	0	0	0	0	1	0	0	0	5303	188	7	4	1035	4	EXOC1	4	56738059	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	7644	56738059	134416217	1226	5694										
CEP135	9662	broad.mit.edu	37	chr4	56878113	56878113	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acactgagaggagacatcttCgagaaagagtggagctatta	12	6	1	4	rs369943972		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56878113C>T	ENST00000257287.4	+	21	2888	c.2764C>T	c.(2764-2766)Cga>Tga	p.R922*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	922					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)					GAGACATCTTCGAGAAAGAGT	0.383																																						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.(2764-2766)Cga>Tga		centrosomal protein 135kDa		C	stop/ARG	1,4405		0,1,2202	59	60	59		2764	3.8	1	4		59	0,8600		0,0,4300	no	stop-gained	CEP135	NM_025009.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		922/1141	56878113	1,13005	2203	4300	6503	SO:0001587	stop_gained	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56878113C>T	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.2764C>T	4.37:g.56878113C>T	ENSP00000257287:p.Arg922*		Somatic					p.R922*	NM_025009.4	NP_079285.2	WXS	Illumina GAIIx	Phase_I	Q66GS9	CP135_HUMAN			21	2888	+	Glioma(25;0.08)|all_neural(26;0.101)		922					B2RMY0|O75130|Q58F25|Q9H8H7	Nonsense_Mutation	SNP	ENST00000257287.4	37	c.2764C>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	C	41	8.763685	0.98945	2.27E-4	0.0	ENSG00000174799	ENST00000257287	.	.	.	5.69	3.81	0.43845	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	14.1786	0.65559	0.3761:0.6239:0.0:0.0	.	.	.	.	X	922	.	ENSP00000257287:R922X	R	+	1	2	CEP135	56572870	0.951000	0.32395	1.000000	0.80357	0.996000	0.88848	1.323000	0.33701	1.496000	0.48567	0.655000	0.94253	CGA		0.383	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		16	42	0	0	0	1	0	16	42					T	56878113	C	T	56878113	4	4	48	1	0	0	0	0	0	1	0	0	3249	876	31	1	2842	1	CEP135	4	56878113	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	140054	56878113	134276163	1227	5695										
KIAA1211	57482	broad.mit.edu	37	chr4	57180406	57180406	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcggaagcagccgagaagagAcgcctagaggagcagaggct	17	9	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:57180406A>G	ENST00000504228.1	+	6	843	c.738A>G	c.(736-738)agA>agG	p.R246R	KIAA1211_ENST00000264229.6_Silent_p.R246R|KIAA1211_ENST00000541073.1_Silent_p.R239R			Q6ZU35	K1211_HUMAN	KIAA1211	246	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)					CCGAGAAGAGACGCCTAGAGG	0.612																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(736-738)agA>agG		KIAA1211							20	26	24					4																	57180406		2040	4177	6217	SO:0001819	synonymous_variant	57482							g.chr4:57180406A>G	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.738A>G	4.37:g.57180406A>G			Somatic				KIAA1211_ENST00000264229.6_Silent_p.R246R|KIAA1211_ENST00000541073.1_Silent_p.R239R	p.R246R			WXS	Illumina GAIIx	Phase_I	Q6ZU35	K1211_HUMAN			6	843	+	Glioma(25;0.08)|all_neural(26;0.101)		246			Glu-rich.		Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	c.738A>G	CCDS43230.1																																																																																				0.612	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		8	14	0	0	0	1	0	8	14					G	57180406	A	G	57180406	2	3	48	1	0	0	0	0	0	0	0	1	8224	272	10	4		4	KIAA1211	4	57180406	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	302293	57180406	133973870	1228	5696										
KIAA1211	57482	broad.mit.edu	37	chr4	57181891	57181891	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acctccaaacagagcacggaAgctgaaagcatacgaaaaag	9	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:57181891A>C	ENST00000504228.1	+	6	2328	c.2223A>C	c.(2221-2223)gaA>gaC	p.E741D	KIAA1211_ENST00000264229.6_Missense_Mutation_p.E741D|KIAA1211_ENST00000541073.1_Missense_Mutation_p.E734D			Q6ZU35	K1211_HUMAN	KIAA1211	741										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)					AGAGCACGGAAGCTGAAAGCA	0.567																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2221-2223)gaA>gaC		KIAA1211							67	80	76					4																	57181891		1972	4137	6109	SO:0001583	missense	57482							g.chr4:57181891A>C	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.2223A>C	4.37:g.57181891A>C	ENSP00000423366:p.Glu741Asp		Somatic				KIAA1211_ENST00000264229.6_Missense_Mutation_p.E741D|KIAA1211_ENST00000541073.1_Missense_Mutation_p.E734D	p.E741D			WXS	Illumina GAIIx	Phase_I	Q6ZU35	K1211_HUMAN			6	2328	+	Glioma(25;0.08)|all_neural(26;0.101)		741					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2223A>C	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	A	6.175	0.400383	0.11696	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.11063	2.81;2.81;2.81	4.59	-1.94	0.07571	.	.	.	.	.	T	0.04452	0.0122	N	0.22421	0.69	0.09310	N	0.999999	B;B;B	0.23990	0.095;0.095;0.037	B;B;B	0.24155	0.051;0.034;0.024	T	0.43278	-0.9401	9	0.06891	T	0.86	-12.1857	0.7573	0.01000	0.3148:0.2982:0.2094:0.1775	.	734;734;741	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	D	741;741;734;651	ENSP00000264229:E741D;ENSP00000423366:E741D;ENSP00000444006:E734D	ENSP00000264229:E741D	E	+	3	2	KIAA1211	56876648	0.000000	0.05858	0.044000	0.18714	0.070000	0.16714	-1.265000	0.02844	-0.081000	0.12662	0.459000	0.35465	GAA		0.567	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		37	75	0	0	0	1	0	37	75					C	57181891	A	C	57181891	3	2	48	1	0	0	0	0	1	0	0	0	8224	69	3	4	2241	4	KIAA1211	4	57181891	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1485	57181891	133972385	1229	5697										
REST	5978	broad.mit.edu	37	chr4	57797479	57797479	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaagcctcctctccgaaaaGataaaaaggaaaagtctaac	6	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:57797479G>T	ENST00000309042.7	+	4	2769	c.2455G>T	c.(2455-2457)Gat>Tat	p.D819Y		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	819					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)					TCTCCGAAAAGATAAAAAGGA	0.498																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(2455-2457)Gat>Tat		RE1-silencing transcription factor							107	116	113					4																	57797479		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.chr4:57797479G>T	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2455G>T	4.37:g.57797479G>T	ENSP00000311816:p.Asp819Tyr		Somatic					p.D819Y	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	WXS	Illumina GAIIx	Phase_I	Q13127	REST_HUMAN			4	2769	+	Glioma(25;0.08)|all_neural(26;0.181)		819					A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.2455G>T	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362749	0.24684	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.10382	2.88	5.38	2.7	0.31948	.	1.558860	0.03956	N	0.289277	T	0.07728	0.0194	N	0.08118	0	0.09310	N	0.999999	B;B	0.28350	0.208;0.005	B;B	0.26202	0.067;0.021	T	0.40757	-0.9546	10	0.48119	T	0.1	-0.9783	10.1347	0.42699	0.0:0.2662:0.5898:0.144	.	796;819	F8WAN5;Q13127	.;REST_HUMAN	Y	819;796	ENSP00000311816:D819Y	ENSP00000311816:D819Y	D	+	1	0	REST	57492236	0.954000	0.32549	0.065000	0.19835	0.000000	0.00434	1.763000	0.38461	0.385000	0.24970	-0.913000	0.02753	GAT		0.498	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		77	117	1	0	1.52378e-38	1	2.19585e-38	77	117					T	57797479	G	T	57797479	3	4	48	1	0	0	0	0	1	0	0	0	13249	942	33	2	2465	2	REST	4	57797479	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	615588	57797479	133356797	1230	5698										
C4orf14	84273	broad.mit.edu	37	chr4	57843010	57843010	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggcaggaggtccactttgtTtcccagcacgatcagctgct	12	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:57843010T>G	ENST00000264230.4	-	1	1979	c.742A>C	c.(742-744)Aac>Cac	p.N248H	POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000314595.5_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	248	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)										TCCACTTTGTTTCCCAGCACG	0.697																																						ENST00000264230.4																			0											c.(742-744)Aac>Cac		nitric oxide associated 1							39	45	43					4																	57843010		2202	4297	6499	SO:0001583	missense	84273						GTP binding	g.chr4:57843010T>G	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.742A>C	4.37:g.57843010T>G	ENSP00000264230:p.Asn248His		Somatic					p.N248H	NM_032313.2	NP_115689.1	WXS	Illumina GAIIx	Phase_I	Q8NC60	CD014_HUMAN			1	1979	-			248					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.742A>C	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.598508	0.87055	.	.	ENSG00000084092	ENST00000264230	T	0.20200	2.09	5.52	5.52	0.82312	.	0.092654	0.64402	D	0.000001	T	0.61912	0.2385	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76468	-0.2948	10	0.87932	D	0	.	15.648	0.77070	0.0:0.0:0.0:1.0	.	248	Q8NC60	CD014_HUMAN	H	248	ENSP00000264230:N248H	ENSP00000264230:N248H	N	-	1	0	C4orf14	57537767	1.000000	0.71417	0.977000	0.42913	0.679000	0.39708	7.474000	0.81024	2.083000	0.62718	0.454000	0.30748	AAC		0.697	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		32	78	0	0	0	1	0	32	78					G	57843010	T	G	57843010	3	3	48	1	0	0	0	0	1	0	0	0	2253	1841	64	4	1382	4	C4orf14	4	57843010	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	45531	57843010	133311266	1231	5699										
POLR2B	5431	broad.mit.edu	37	chr4	57883789	57883789	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgggagtttacatcaccaacTtccatgttcgcatggacaca	8	11	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:57883789T>G	ENST00000381227.1	+	17	2631	c.2218T>G	c.(2218-2220)Ttc>Gtc	p.F740V	POLR2B_ENST00000431623.2_Missense_Mutation_p.F665V|POLR2B_ENST00000441246.2_Missense_Mutation_p.F733V|POLR2B_ENST00000314595.5_Missense_Mutation_p.F740V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	740					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)					CATCACCAACTTCCATGTTCG	0.423																																						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.(2218-2220)Ttc>Gtc		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							142	122	129					4																	57883789		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.chr4:57883789T>G		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.2218T>G	4.37:g.57883789T>G	ENSP00000370625:p.Phe740Val		Somatic				POLR2B_ENST00000314595.5_Missense_Mutation_p.F740V|POLR2B_ENST00000431623.2_Missense_Mutation_p.F665V|POLR2B_ENST00000441246.2_Missense_Mutation_p.F733V	p.F740V			WXS	Illumina GAIIx	Phase_I	P30876	RPB2_HUMAN			17	2631	+	Glioma(25;0.08)|all_neural(26;0.181)		740					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.2218T>G	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.912081	0.92178	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.23	5.23	0.72850	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	T	0.77844	0.4191	L	0.60012	1.86	0.80722	D	1	D;D	0.54397	0.966;0.966	P;P	0.56216	0.794;0.794	T	0.79799	-0.1651	10	0.56958	D	0.05	.	15.1017	0.72284	0.0:0.0:0.0:1.0	.	665;740	C9J4M6;P30876	.;RPB2_HUMAN	V	740;665;733;740	ENSP00000370625:F740V;ENSP00000391096:F665V;ENSP00000391452:F733V;ENSP00000312735:F740V	ENSP00000312735:F740V	F	+	1	0	POLR2B	57578546	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	8.036000	0.88901	1.972000	0.57404	0.379000	0.24179	TTC		0.423	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		5	15	0	0	0	1	0	5	15					G	57883789	T	G	57883789	3	3	48	1	0	0	0	0	1	0	0	0	12224	1609	56	4	2280	4	POLR2B	4	57883789	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	40779	57883789	133270487	1232	5700										
EPHA5	2044	broad.mit.edu	37	chr4	66201816	66201816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atccatggggcttggcagacGatagccttcctctaccgctt	10	13	1	1	rs556854839		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:66201816G>A	ENST00000273854.3	-	16	3286	c.2686C>T	c.(2686-2688)Cgt>Tgt	p.R896C	EPHA5_ENST00000432638.2_Missense_Mutation_p.R733C|EPHA5_ENST00000511294.1_Missense_Mutation_p.R897C|EPHA5_ENST00000354839.4_Missense_Mutation_p.R874C	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	896	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTTGGCAGACGATAGCCTTCC	0.438										TSP Lung(17;0.13)			G|||	1	0.000199681	0	0.0014	5008	,	,		15156	0		0	False		,,,				2504	0					ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(2686-2688)Cgt>Tgt		EPH receptor A5							93	79	83					4																	66201816		2203	4299	6502	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.chr4:66201816G>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2686C>T	4.37:g.66201816G>A	ENSP00000273854:p.Arg896Cys	TSP Lung(17;0.13)	Somatic				EPHA5_ENST00000354839.4_Missense_Mutation_p.R874C|EPHA5_ENST00000432638.2_Missense_Mutation_p.R733C|EPHA5_ENST00000511294.1_Missense_Mutation_p.R897C	p.R896C	NM_004439.5	NP_004430.4	WXS	Illumina GAIIx	Phase_I	P54756	EPHA5_HUMAN			16	3286	-			896			Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2686C>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172866	0.78452	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.93	5.08	0.68730	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	0.000011	D	0.95310	0.8478	H	0.97214	3.96	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	0.97060	0.9770	10	0.87932	D	0	.	16.3228	0.82958	0.0:0.0:0.8668:0.1332	.	875;897;874;896	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	C	896;733;874;897	ENSP00000273854:R896C;ENSP00000389208:R733C;ENSP00000346899:R874C;ENSP00000427638:R897C	ENSP00000273854:R896C	R	-	1	0	EPHA5	65884411	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.017000	0.49615	1.486000	0.48398	0.655000	0.94253	CGT		0.438	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		12	29	0	0	0	1	0	12	29					A	66201816	G	A	66201816	3	1	48	1	0	0	0	0	1	0	0	0	5172	1058	37	1	439	1	EPHA5	4	66201816	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	8318027	66201816	124952460	1233	5701										
EPHA5	2044	broad.mit.edu	37	chr4	66361152	66361152	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gactctctcctgaaataatcCttttcacagacacaagaggt	6	11	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:66361152C>A	ENST00000273854.3	-	4	1620	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.K340N|EPHA5_ENST00000354839.4_Missense_Mutation_p.K340N	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	340	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGAAATAATCCTTTTCACAGA	0.463										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1018-1020)aaG>aaT		EPH receptor A5							171	167	168					4																	66361152		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.chr4:66361152C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1020G>T	4.37:g.66361152C>A	ENSP00000273854:p.Lys340Asn	TSP Lung(17;0.13)	Somatic				EPHA5_ENST00000354839.4_Missense_Mutation_p.K340N|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.K340N	p.K340N	NM_004439.5	NP_004430.4	WXS	Illumina GAIIx	Phase_I	P54756	EPHA5_HUMAN			4	1620	-			340			Cys-rich.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1020G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	3.658	-0.070189	0.07228	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;D	0.97089	1.62;1.62;-4.24	5.84	5.84	0.93424	.	0.107079	0.41001	D	0.000965	D	0.89750	0.6805	N	0.05554	-0.025	0.31624	N	0.649859	B;B;B;B	0.16603	0.0;0.0;0.0;0.018	B;B;B;B	0.18263	0.001;0.001;0.001;0.021	T	0.82812	-0.0272	10	0.08179	T	0.78	.	8.4655	0.32953	0.0:0.743:0.1401:0.1168	.	340;340;340;340	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	N	340	ENSP00000273854:K340N;ENSP00000346899:K340N;ENSP00000427638:K340N	ENSP00000273854:K340N	K	-	3	2	EPHA5	66043747	0.903000	0.30736	1.000000	0.80357	0.996000	0.88848	-0.093000	0.11111	2.770000	0.95276	0.460000	0.39030	AAG		0.463	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		45	80	1	0	8.48111e-28	1	1.20306e-27	45	80					A	66361152	C	A	66361152	3	1	48	1	0	0	0	0	1	0	0	0	5172	680	24	5	2153	5	EPHA5	4	66361152	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	159336	66361152	124793124	1234	5702										
CENPC1	1060	broad.mit.edu	37	chr4	68372634	68372634	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcataatgttatcttcattCtttgagcttcttgtagatct	6	7	6	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:68372634C>T	ENST00000273853.6	-	11	2173	c.1923G>A	c.(1921-1923)aaG>aaA	p.K641K		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	641					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										TATCTTCATTCTTTGAGCTTC	0.343																																						ENST00000273853.6																			0											c.(1921-1923)aaG>aaA		centromere protein C							111	100	104					4																	68372634		1830	4079	5909	SO:0001819	synonymous_variant	1060							g.chr4:68372634C>T	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"centromere protein C 1"	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.1923G>A	4.37:g.68372634C>T			Somatic					p.K641K	NM_001812.2	NP_001803.2	WXS	Illumina GAIIx	Phase_I					11	2173	-								Q8IW27|Q9P0M5	Silent	SNP	ENST00000273853.6	37	c.1923G>A	CCDS47063.1																																																																																				0.343	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			8	24	0	0	0	1	0	8	24					T	68372634	C	T	68372634	2	4	48	1	0	0	0	0	0	0	0	1	3231	912	32	3		3	CENPC1	4	68372634	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2011482	68372634	122781642	1235	5703										
UBA6	55236	broad.mit.edu	37	chr4	68530925	68530925	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaaaaaaaactgttttaggAgtcttaacttggacagctat	7	6	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:68530925A>G	ENST00000322244.5	-	10	938	c.879T>C	c.(877-879)acT>acC	p.T293T	UBA6_ENST00000420827.2_Silent_p.T293T	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	293					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						CTGTTTTAGGAGTCTTAACTT	0.323																																						ENST00000322244.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(877-879)acT>acC		ubiquitin-like modifier activating enzyme 6							63	68	67					4																	68530925		2203	4296	6499	SO:0001819	synonymous_variant	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68530925A>G	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.879T>C	4.37:g.68530925A>G			Somatic				UBA6_ENST00000420827.2_Silent_p.T293T	p.T293T	NM_018227.5	NP_060697.4	WXS	Illumina GAIIx	Phase_I	A0AVT1	UBA6_HUMAN			10	938	-			293					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Silent	SNP	ENST00000322244.5	37	c.879T>C	CCDS3516.1																																																																																				0.323	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		4	54	0	0	0	1	0	4	54					G	68530925	A	G	68530925	2	3	48	1	0	0	0	0	0	0	0	1	16847	291	11	4		4	UBA6	4	68530925	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	158291	68530925	122623351	1236	5704										
UGT2B15	7366	broad.mit.edu	37	chr4	69535816	69535816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtgtagccaacagagaatCgaagactgtacagaaagggt	12	6	0	3	rs377015117		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:69535816C>T	ENST00000338206.5	-	1	530	c.521G>A	c.(520-522)cGa>cAa	p.R174Q		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	174				LYSLRFSV -> VYRSRISR (in Ref. 7; AAA83406). {ECO:0000305}.	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)	AACAGAGAATCGAAGACTGTA	0.408																																						ENST00000338206.5																			0											c.(520-522)cGa>cAa		UDP glucuronosyltransferase 2 family, polypeptide B15		C	GLN/ARG	0,4406		0,0,2203	240	242	241		521	1.9	0	4		241	1,8591	1.2+/-3.3	0,1,4295	no	missense	UGT2B15	NM_001076.2	43	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	174/531	69535816	1,12997	2203	4296	6499	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69535816C>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.521G>A	4.37:g.69535816C>T	ENSP00000341045:p.Arg174Gln		Somatic					p.R174Q	NM_001076.3	NP_001067.2	WXS	Illumina GAIIx	Phase_I	P54855	UDB15_HUMAN			1	530	-			174	LYSLRFSV -> VYRSRISR (in Ref. 6; AAA83406).				A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.521G>A	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	c	12.64	1.999855	0.35320	0.0	1.16E-4	ENSG00000196620	ENST00000338206	T	0.63417	-0.04	2.79	1.93	0.25924	.	0.000000	0.64402	U	0.000011	T	0.70718	0.3256	M	0.92555	3.32	0.24126	N	0.995782	P	0.46784	0.884	P	0.46850	0.529	T	0.64980	-0.6279	10	0.54805	T	0.06	.	7.6682	0.28443	0.0:0.8631:0.0:0.1368	.	174	P54855	UDB15_HUMAN	Q	174	ENSP00000341045:R174Q	ENSP00000341045:R174Q	R	-	2	0	UGT2B15	69218411	0.767000	0.28508	0.018000	0.16275	0.005000	0.04900	2.233000	0.43027	0.484000	0.27630	0.442000	0.29010	CGA		0.408	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		14	205	0	0	0	1	0	14	205					T	69535816	C	T	69535816	3	4	48	1	0	0	0	0	1	0	0	0	16973	884	31	1	2712	1	UGT2B15	4	69535816	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1004891	69535816	121618460	1237	5705										
UGT2B15	7366	broad.mit.edu	37	chr4	69536087	69536087	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagagaatcttccaaataatTtttagttaaagatgtaggat	7	3	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:69536087T>G	ENST00000338206.5	-	1	259	c.250A>C	c.(250-252)Aat>Cat	p.N84H		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	84					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)	TCCAAATAATTTTTAGTTAAA	0.308																																						ENST00000338206.5																			0											c.(250-252)Aat>Cat		UDP glucuronosyltransferase 2 family, polypeptide B15							78	92	87					4																	69536087		2199	4297	6496	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69536087T>G	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.250A>C	4.37:g.69536087T>G	ENSP00000341045:p.Asn84His		Somatic					p.N84H	NM_001076.3	NP_001067.2	WXS	Illumina GAIIx	Phase_I	P54855	UDB15_HUMAN			1	259	-			84					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.250A>C	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	t	9.224	1.034213	0.19590	.	.	ENSG00000196620	ENST00000338206	T	0.59906	0.23	2.58	-3.75	0.04372	.	0.353403	0.24054	U	0.041971	T	0.26810	0.0656	N	0.10874	0.06	0.09310	N	1	B	0.12630	0.006	B	0.15870	0.014	T	0.04664	-1.0935	10	0.59425	D	0.04	.	1.1774	0.01838	0.1709:0.4318:0.1691:0.2282	.	84	P54855	UDB15_HUMAN	H	84	ENSP00000341045:N84H	ENSP00000341045:N84H	N	-	1	0	UGT2B15	69218682	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	-0.211000	0.09332	-1.192000	0.02691	0.363000	0.22086	AAT		0.308	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		52	74	0	0	0	1	0	52	74					G	69536087	T	G	69536087	3	3	48	1	0	0	0	0	1	0	0	0	16973	1841	64	4	2983	4	UGT2B15	4	69536087	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	271	69536087	121618189	1238	5706										
UGT2B10	7365	broad.mit.edu	37	chr4	69693266	69693266	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacagtaattaatgatccttCgtgagtagaacaatattttt	7	5	0	3	rs375008131	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:69693266C>T	ENST00000265403.7	+	5	1334	c.1307C>T	c.(1306-1308)tCa>tTa	p.S436L	UGT2B10_ENST00000458688.2_Splice_Site_p.S352L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	436					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AATGATCCTTCGTGAGTAGAA	0.388													c|||	2	0.000399361	8e-04	0	5008	,	,		16223	0.001		0	False		,,,				2504	0				Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.e5+1		UDP glucuronosyltransferase 2 family, polypeptide B10		T	LEU/SER,LEU/SER	5,3017		0,5,1506	130	140	137		1307,1055	-3.6	0	4		137	0,5416		0,0,2708	no	missense-near-splice,missense-near-splice	UGT2B10	NM_001075.4,NM_001144767.1	145,145	0,5,4214	TT,TC,CC		0.0,0.1655,0.0593	benign,benign	436/529,352/445	69693266	5,8433	1511	2708	4219	SO:0001630	splice_region_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69693266C>T	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1307+1C>T	4.37:g.69693266C>T			Somatic				UGT2B10_ENST00000458688.2_Splice_Site_p.S352_splice	p.S436_splice	NM_001075.4	NP_001066.1	WXS	Illumina GAIIx	Phase_I	P36537	UDB10_HUMAN			5	1334	+			436					A8K9M3|B4DPP1|Q14CR8	Splice_Site	SNP	ENST00000265403.7	37	c.1307_splice		.	.	.	.	.	.	.	.	.	.	c	9.674	1.147395	0.21288	0.001655	0.0	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.64618	-0.11;3.09	2.25	-3.57	0.04612	.	0.336345	0.24278	N	0.039924	T	0.57315	0.2045	M	0.86178	2.8	0.29939	N	0.821212	B;B	0.29716	0.05;0.255	B;B	0.23018	0.01;0.043	T	0.42632	-0.9440	10	0.48119	T	0.1	.	9.5167	0.39109	0.0:0.7318:0.0:0.2682	.	352;436	B4DPP1;P36537	.;UDB10_HUMAN	L	436;352	ENSP00000265403:S436L;ENSP00000413420:S352L	ENSP00000265403:S436L	S	+	2	0	UGT2B10	69727855	0.175000	0.23083	0.020000	0.16555	0.030000	0.12068	0.282000	0.18829	-1.959000	0.01018	-2.741000	0.00127	TCA		0.388	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075	Missense_Mutation	40	79	0	0	0	1	0	40	79					T	69693266	C	T	69693266	5	4	48	1	0	0	0	0	0	0	1	0	16971	898	31	1	1325	1	UGT2B10	4	69693266	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	157179	69693266	121461010	1239	5707										
UGT2B11	10720	broad.mit.edu	37	chr4	70080254	70080254	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcatcattgggatcaaaaaGaatggaagctgaagatgcca	11	6	2	3	rs201055366	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:70080254G>T	ENST00000446444.1	-	1	195	c.187C>A	c.(187-189)Ctt>Att	p.L63I	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	63					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						GGATCAAAAAGAATGGAAGCT	0.388													.|||	3	0.000599042	0	0	5008	,	,		19263	0		0.003	False		,,,				2504	0					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.(187-189)Ctt>Att		UDP glucuronosyltransferase 2 family, polypeptide B11		G	ILE/LEU	0,4394		0,0,2197	59	68	65		187	1	0.7	4		65	7,8533		0,7,4263	no	missense	UGT2B11	NM_001073.1	5	0,7,6460	TT,TG,GG		0.082,0.0,0.0541	benign	63/530	70080254	7,12927	2197	4270	6467	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70080254G>T	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.187C>A	4.37:g.70080254G>T	ENSP00000387683:p.Leu63Ile		Somatic				RP11-704M14.1_ENST00000505646.1_RNA	p.L63I	NM_001073.1	NP_001064.1	WXS	Illumina GAIIx	Phase_I	O75310	UDB11_HUMAN			1	195	-			63					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.187C>A	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	3.079	-0.189381	0.06299	0.0	8.2E-4	ENSG00000213759	ENST00000446444	T	0.60299	0.2	1.96	1.05	0.20165	.	0.107986	0.36167	U	0.002758	T	0.46737	0.1408	L	0.54965	1.715	0.19300	N	0.999976	B	0.18863	0.031	B	0.23852	0.049	T	0.39014	-0.9634	10	0.42905	T	0.14	.	6.0646	0.19856	0.1896:0.0:0.8104:0.0	.	63	O75310	UDB11_HUMAN	I	63	ENSP00000387683:L63I	ENSP00000387683:L63I	L	-	1	0	UGT2B11	70114843	0.000000	0.05858	0.663000	0.29738	0.237000	0.25408	-0.538000	0.06120	1.087000	0.41251	0.184000	0.17185	CTT		0.388	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		28	145	1	0	4.74835e-14	1	6.14782e-14	28	145					T	70080254	G	T	70080254	3	4	48	1	0	0	0	0	1	0	0	0	16972	942	33	2	1426	2	UGT2B11	4	70080254	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	386988	70080254	121074022	1240	5708										
UGT2B4	7363	broad.mit.edu	37	chr4	70346621	70346621	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgataatttcatagcattctCtttatatctaaacgataagc	4	7	3	1	rs368457483		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:70346621C>A	ENST00000305107.6	-	6	1364	c.1318G>T	c.(1318-1320)Gag>Tag	p.E440*	UGT2B4_ENST00000512583.1_Missense_Mutation_p.K366N|UGT2B4_ENST00000506580.1_5'UTR|AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000381096.3_Nonsense_Mutation_p.E304*	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	440					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)	ATAGCATTCTCTTTATATCTA	0.418																																						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.(1318-1320)Gag>Tag		UDP glucuronosyltransferase 2 family, polypeptide B4							64	66	66					4																	70346621		2203	4300	6503	SO:0001587	stop_gained	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70346621C>A	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.1318G>T	4.37:g.70346621C>A	ENSP00000305221:p.Glu440*		Somatic				UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.K366N|UGT2B4_ENST00000381096.3_Nonsense_Mutation_p.E304*	p.E440*	NM_021139.2	NP_066962.2	WXS	Illumina GAIIx	Phase_I	P06133	UD2B4_HUMAN			6	1364	-			440					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Nonsense_Mutation	SNP	ENST00000305107.6	37	c.1318G>T	CCDS43234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.48|14.48	2.547276|2.547276	0.45383|0.45383	.|.	.|.	ENSG00000156096|ENSG00000156096	ENST00000305107;ENST00000381096|ENST00000512583	.|T	.|0.51071	.|0.72	2.11|2.11	1.22|1.22	0.21188|0.21188	.|.	0.000000|.	0.64402|.	U|.	0.000003|.	.|T	.|0.44414	.|0.1292	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.58268	.|0.982	.|P	.|0.46718	.|0.525	.|T	.|0.42430	.|-0.9452	.|8	0.54805|0.87932	T|D	0.06|0	.|.	5.9722|5.9722	0.19359|0.19359	0.0:0.8145:0.0:0.1855|0.0:0.8145:0.0:0.1855	.|.	.|366	.|G5E9X8	.|.	X|N	440;304|366	.|ENSP00000421290:K366N	ENSP00000305221:E440X|ENSP00000421290:K366N	E|K	-|-	1|3	0|2	UGT2B4|UGT2B4	70381210|70381210	1.000000|1.000000	0.71417|0.71417	0.226000|0.226000	0.23910|0.23910	0.175000|0.175000	0.22909|0.22909	3.290000|3.290000	0.51755|0.51755	0.434000|0.434000	0.26340|0.26340	0.305000|0.305000	0.20034|0.20034	GAG|AAG		0.418	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		30	74	1	0	5.45727e-16	1	7.22369e-16	30	74					A	70346621	C	A	70346621	4	1	48	1	0	0	0	0	0	1	0	0	16976	922	32	2	272	2	UGT2B4	4	70346621	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	266367	70346621	120807655	1241	5709										
AMBN	258	broad.mit.edu	37	chr4	71472354	71472354	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagcaaccatggataccacGatggccccaaactctctgca	8	14	1	0	rs570826995		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:71472354G>A	ENST00000322937.6	+	13	1354	c.1251G>A	c.(1249-1251)acG>acA	p.T417T	AMBN_ENST00000449493.2_Silent_p.T402T	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	417					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)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGGATACCACGATGGCCCCAA	0.512													G|||	1	0.000199681	8e-04	0	5008	,	,		19423	0		0	False		,,,				2504	0					ENST00000322937.6																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(1249-1251)acG>acA		ameloblastin (enamel matrix protein)							61	65	64					4																	71472354		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.chr4:71472354G>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.1251G>A	4.37:g.71472354G>A			Somatic				AMBN_ENST00000449493.2_Silent_p.T402T	p.T417T	NM_016519.5	NP_057603.1	WXS	Illumina GAIIx	Phase_I	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		13	1354	+			417					Q3B862|Q9H2X1|Q9H4L1	Silent	SNP	ENST00000322937.6	37	c.1251G>A	CCDS3543.1																																																																																				0.512	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		38	70	0	0	0	1	0	38	70					A	71472354	G	A	71472354	2	1	48	1	0	0	0	0	0	0	0	1	563	1045	37	1		1	AMBN	4	71472354	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1125733	71472354	119681922	1242	5710										
ENAM	10117	broad.mit.edu	37	chr4	71507979	71507979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagtaccccaggactaaacaCtgggaacaaccctccagctc	7	16	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:71507979C>T	ENST00000396073.3	+	9	1117	c.836C>T	c.(835-837)aCt>aTt	p.T279I	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	279					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)			GGACTAAACACTGGGAACAAC	0.532																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(835-837)aCt>aTt		enamelin							82	75	77					4																	71507979		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71507979C>T	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.836C>T	4.37:g.71507979C>T	ENSP00000379383:p.Thr279Ile		Somatic				ENAM_ENST00000472903.1_Intron	p.T279I	NM_031889.2	NP_114095.2	WXS	Illumina GAIIx	Phase_I	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1117	+			279					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.836C>T	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	6.480	0.456762	0.12283	.	.	ENSG00000132464	ENST00000396073	T	0.36340	1.26	5.93	5.09	0.68999	.	0.642141	0.14628	N	0.307980	T	0.40171	0.1106	M	0.61703	1.905	0.09310	N	1	P	0.36222	0.544	B	0.40038	0.317	T	0.29579	-1.0007	10	0.38643	T	0.18	0.001	11.0834	0.48072	0.0:0.9156:0.0:0.0844	.	279	Q9NRM1	ENAM_HUMAN	I	279	ENSP00000379383:T279I	ENSP00000379383:T279I	T	+	2	0	ENAM	71726843	0.905000	0.30787	0.043000	0.18650	0.004000	0.04260	1.748000	0.38308	1.529000	0.49120	0.655000	0.94253	ACT		0.532	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		11	75	0	0	0	1	0	11	75					T	71507979	C	T	71507979	3	4	48	1	0	0	0	0	1	0	0	0	5114	565	20	3	866	3	ENAM	4	71507979	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	35625	71507979	119646297	1243	5711										
GC	2638	broad.mit.edu	37	chr4	72631284	72631284	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcgttccaggccctctttgGtgcagcactcagcagtgcct	10	14	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:72631284G>T	ENST00000273951.8	-	4	681	c.338C>A	c.(337-339)aCc>aAc	p.T113N	GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.T113N|GC_ENST00000504199.1_Missense_Mutation_p.T132N	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	113	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	GCCCTCTTTGGTGCAGCACTC	0.517																																						ENST00000273951.8																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45						c.(337-339)aCc>aAc		group-specific component (vitamin D binding protein)	Cholecalciferol(DB00169)						129	119	123					4																	72631284		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72631284G>T	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.338C>A	4.37:g.72631284G>T	ENSP00000273951:p.Thr113Asn		Somatic				GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.T132N|GC_ENST00000513476.1_Missense_Mutation_p.T113N	p.T113N	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	WXS	Illumina GAIIx	Phase_I	P02774	VTDB_HUMAN	Lung(101;0.148)		4	681	-		all_hematologic(202;0.107)	113			Albumin 1.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.338C>A	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	G	9.267	1.044727	0.19748	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476;ENST00000506245	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.5	5.5	0.81552	.	0.540879	0.19488	N	0.113043	T	0.68568	0.3015	L	0.60455	1.87	0.09310	N	1	B;P	0.42692	0.256;0.787	B;B	0.42916	0.216;0.402	T	0.67496	-0.5656	10	0.72032	D	0.01	.	10.3417	0.43882	0.1478:0.0:0.8522:0.0	.	132;113	D6RAK8;D6RF35	.;.	N	113;132;113;113	ENSP00000273951:T113N;ENSP00000421725:T132N;ENSP00000426683:T113N;ENSP00000426718:T113N	ENSP00000273951:T113N	T	-	2	0	GC	72850148	0.315000	0.24571	0.012000	0.15200	0.018000	0.09664	3.467000	0.53078	2.735000	0.93741	0.655000	0.94253	ACC		0.517	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			29	64	1	0	1.17739e-12	1	1.49076e-12	29	64					T	72631284	G	T	72631284	3	4	48	1	0	0	0	0	1	0	0	0	6290	1261	44	5	1122	5	GC	4	72631284	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1123305	72631284	118522992	1244	5712										
ADAMTS3	9508	broad.mit.edu	37	chr4	73161417	73161417	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcacattcgtctaataggttTcggctttttgttggcctcac	9	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:73161417T>C	ENST00000286657.4	-	19	2713	c.2677A>G	c.(2677-2679)Aaa>Gaa	p.K893E		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	893	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)			CTAATAGGTTTCGGCTTTTTG	0.393																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2677-2679)Aaa>Gaa		ADAM metallopeptidase with thrombospondin type 1 motif, 3							242	204	217					4																	73161417		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.chr4:73161417T>C	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.2677A>G	4.37:g.73161417T>C	ENSP00000286657:p.Lys893Glu		Somatic					p.K893E	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)		19	2713	-			893			TSP type-1 2.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2677A>G	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.810195	0.90707	.	.	ENSG00000156140	ENST00000286657	T	0.60548	0.18	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.59542	0.2201	L	0.28608	0.87	0.80722	D	1	P	0.49447	0.924	P	0.60415	0.874	T	0.53180	-0.8475	10	0.10902	T	0.67	.	14.9595	0.71144	0.0:0.0:0.0:1.0	.	893	O15072	ATS3_HUMAN	E	893	ENSP00000286657:K893E	ENSP00000286657:K893E	K	-	1	0	ADAMTS3	73380281	1.000000	0.71417	0.979000	0.43373	0.965000	0.64279	7.937000	0.87672	1.927000	0.55829	0.528000	0.53228	AAA		0.393	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			8	51	0	0	0	1	0	8	51					C	73161417	T	C	73161417	3	2	48	1	0	0	0	0	1	0	0	0	267	1792	62	4	956	4	ADAMTS3	4	73161417	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	530133	73161417	117992859	1245	5713										
ADAMTS3	9508	broad.mit.edu	37	chr4	73188757	73188757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atatcccagcattatcatgcGcaccaggaccacatttatat	5	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:73188757G>A	ENST00000286657.4	-	6	955	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	307	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)			ATTATCATGCGCACCAGGACC	0.363																																					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.(919-921)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 3							184	184	184					4																	73188757		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.chr4:73188757G>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.919C>T	4.37:g.73188757G>A	ENSP00000286657:p.Arg307Cys		Somatic				RP11-373J21.1_ENST00000503918.1_RNA	p.R307C	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)		6	955	-			307			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.919C>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384852	0.82792	.	.	ENSG00000156140	ENST00000286657	D	0.87412	-2.25	6.06	6.06	0.98353	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.95198	0.8443	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95106	0.8234	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	307	O15072	ATS3_HUMAN	C	307	ENSP00000286657:R307C	ENSP00000286657:R307C	R	-	1	0	ADAMTS3	73407621	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	3.572000	0.53849	2.882000	0.98803	0.655000	0.94253	CGC		0.363	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			43	89	0	0	0	1	0	43	89					A	73188757	G	A	73188757	3	1	48	1	0	0	0	0	1	0	0	0	267	1087	38	1	2766	1	ADAMTS3	4	73188757	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	27340	73188757	117965519	1246	5714										
ALB	213	broad.mit.edu	37	chr4	74283943	74283943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagtcgatgaaacatacgttCccaaagagtttaatgctgaa	8	7	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:74283943C>T	ENST00000503124.1	+	10	1324	c.1117C>T	c.(1117-1119)Ccc>Tcc	p.P373S	ALB_ENST00000415165.2_Missense_Mutation_p.P331S|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.P408S|ALB_ENST00000295897.4_Missense_Mutation_p.P523S|ALB_ENST00000509063.1_Missense_Mutation_p.P523S			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACATACGTTCCCAAAGAGTT	0.428																																						ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(1567-1569)Ccc>Tcc		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						134	127	129					4																	74283943		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74283943C>T	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.1117C>T	4.37:g.74283943C>T	ENSP00000421027:p.Pro373Ser		Somatic				ALB_ENST00000415165.2_Missense_Mutation_p.P331S|ALB_ENST00000509063.1_Missense_Mutation_p.P523S|ALB_ENST00000503124.1_Missense_Mutation_p.P373S|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.P408S	p.P523S	NM_000477.5	NP_000468.1	WXS	Illumina GAIIx	Phase_I	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1656	+	Breast(15;0.00102)		523			Albumin 3.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.1567C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.17|16.17	3.048241|3.048241	0.55110|0.55110	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202|ENST00000511370	T;T;T;T;T|.	0.59364|.	0.27;0.27;0.27;0.27;0.27|.	5.94|5.94	5.94|5.94	0.96194|0.96194	Serum albumin-like (1);Serum albumin, N-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77525|0.77525	0.4143|0.4143	M|M	0.76727|0.76727	2.345|2.345	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D;D|.	0.89917|.	1.0;0.997;0.997;1.0;0.998|.	D;D;D;D;D|.	0.85130|.	0.997;0.96;0.96;0.98;0.971|.	T|T	0.75903|0.75903	-0.3153|-0.3153	10|5	0.87932|.	D|.	0|.	-21.6067|-21.6067	18.9296|18.9296	0.92560|0.92560	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	408;331;373;523;523|.	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768|.	.;.;.;.;ALBU_HUMAN|.	S|F	523;331;310;373;523;408;532|367	ENSP00000295897:P523S;ENSP00000401820:P331S;ENSP00000421027:P373S;ENSP00000422784:P523S;ENSP00000384695:P408S|.	ENSP00000295897:P523S|.	P|S	+|+	1|2	0|0	ALB|ALB	74502807|74502807	0.961000|0.961000	0.32948|0.32948	0.969000|0.969000	0.41365|0.41365	0.012000|0.012000	0.07955|0.07955	2.138000|2.138000	0.42140|0.42140	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	CCC|TCC		0.428	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		21	38	0	0	0	1	0	21	38					T	74283943	C	T	74283943	3	4	48	1	0	0	0	0	1	0	0	0	486	855	30	3	1613	3	ALB	4	74283943	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1095186	74283943	116870333	1247	5715										
PARM1	25849	broad.mit.edu	37	chr4	75971446	75971446	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actacaacaaccctctgtacGatgactcctaacaatggaat	5	12	1	1	rs367804546		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:75971446G>T	ENST00000307428.7	+	4	1134	c.922G>T	c.(922-924)Gat>Tat	p.D308Y	PARM1_ENST00000513238.1_Missense_Mutation_p.D66Y	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	308					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCCTCTGTACGATGACTCCTA	0.438																																						ENST00000307428.7																			0				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(922-924)Gat>Tat		prostate androgen-regulated mucin-like protein 1							112	116	114					4																	75971446		2141	4260	6401	SO:0001583	missense	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75971446G>T	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"Prostatic androgen-repressed message 1", "Castration-induced prostatic apoptosis-related protein 1", "WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.922G>T	4.37:g.75971446G>T	ENSP00000370224:p.Asp308Tyr		Somatic				PARM1_ENST00000513238.1_Missense_Mutation_p.D66Y	p.D308Y	NM_015393.3	NP_056208.2	WXS	Illumina GAIIx	Phase_I	Q6UWI2	PARM1_HUMAN			4	1134	+			308					B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	c.922G>T	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551852	0.65311	.	.	ENSG00000169116	ENST00000513238;ENST00000307428	T;T	0.23552	1.9;1.9	5.36	5.36	0.76844	.	0.000000	0.56097	D	0.000030	T	0.38639	0.1048	N	0.24115	0.695	0.48571	D	0.999673	D	0.89917	1.0	D	0.97110	1.0	T	0.22836	-1.0205	10	0.87932	D	0	-21.6619	16.6237	0.84936	0.0:0.0:1.0:0.0	.	308	Q6UWI2	PARM1_HUMAN	Y	66;308	ENSP00000424276:D66Y;ENSP00000370224:D308Y	ENSP00000370224:D308Y	D	+	1	0	PARM1	76190470	1.000000	0.71417	0.791000	0.31998	0.626000	0.37791	6.093000	0.71422	2.797000	0.96272	0.561000	0.74099	GAT		0.438	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		12	19	1	0	2.61681e-11	1	3.25035e-11	12	19					T	75971446	G	T	75971446	3	4	48	1	0	0	0	0	1	0	0	0	11461	1058	37	2	936	2	PARM1	4	75971446	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1687503	75971446	115182830	1248	5716										
NUP54	53371	broad.mit.edu	37	chr4	77036593	77036593	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagctttatatcttctagatCgtctttaatgatgctaatca	5	8	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:77036593C>A	ENST00000264883.3	-	12	1590	c.1450G>T	c.(1450-1452)Gat>Tat	p.D484Y	NUP54_ENST00000514987.1_Missense_Mutation_p.D436Y|NUP54_ENST00000458189.2_Missense_Mutation_p.D304Y|NUP54_ENST00000342467.6_Missense_Mutation_p.D268Y	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	484					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)	p.D484Y(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TCTTCTAGATCGTCTTTAATG	0.333																																						ENST00000264883.3																			1	Substitution - Missense(1)	p.D484Y(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						c.(1450-1452)Gat>Tat		nucleoporin 54kDa							151	139	143					4																	77036593		2203	4300	6503	SO:0001583	missense	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77036593C>A	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"nucleoporin 54kD"			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.1450G>T	4.37:g.77036593C>A	ENSP00000264883:p.Asp484Tyr		Somatic				NUP54_ENST00000514987.1_Missense_Mutation_p.D436Y|NUP54_ENST00000458189.2_Missense_Mutation_p.D304Y|NUP54_ENST00000342467.6_Missense_Mutation_p.D268Y	p.D484Y	NM_017426.2	NP_059122.2	WXS	Illumina GAIIx	Phase_I	Q7Z3B4	NUP54_HUMAN			12	1590	-			484					B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	ENST00000264883.3	37	c.1450G>T	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207673	0.79240	.	.	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	6.04	6.04	0.98038	.	0.043908	0.85682	D	0.000000	T	0.76593	0.4009	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74348	0.95;0.983;0.945	T	0.77797	-0.2453	9	0.87932	D	0	-17.1458	13.7331	0.62802	0.0:0.9302:0.0:0.0698	.	436;268;484	B4DT35;Q7Z3B4-2;Q7Z3B4	.;.;NUP54_HUMAN	Y	484;268;436;304	.	ENSP00000264883:D484Y	D	-	1	0	NUP54	77255617	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.729000	0.68538	2.873000	0.98535	0.561000	0.74099	GAT		0.333	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			4	27	1	0	0.150653	1	0.151842	4	27					A	77036593	C	A	77036593	3	1	48	1	0	0	0	0	1	0	0	0	10776	884	31	2	77	2	NUP54	4	77036593	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1065147	77036593	114117683	1249	5717										
NUP54	53371	broad.mit.edu	37	chr4	77053689	77053689	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacataccagcaggaggattCtgtaaaagctgtttgatctg	10	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:77053689C>T	ENST00000264883.3	-	6	1034	c.894G>A	c.(892-894)caG>caA	p.Q298Q	NUP54_ENST00000514987.1_Silent_p.Q250Q|NUP54_ENST00000458189.2_Silent_p.Q118Q|NUP54_ENST00000515460.1_5'Flank|NUP54_ENST00000342467.6_Silent_p.Q118Q	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	298	9 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						CAGGAGGATTCTGTAAAAGCT	0.368																																						ENST00000264883.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						c.(892-894)caG>caA		nucleoporin 54kDa							172	175	174					4																	77053689		2203	4300	6503	SO:0001819	synonymous_variant	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77053689C>T	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"nucleoporin 54kD"			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.894G>A	4.37:g.77053689C>T			Somatic				NUP54_ENST00000514987.1_Silent_p.Q250Q|NUP54_ENST00000458189.2_Silent_p.Q118Q|NUP54_ENST00000342467.6_Silent_p.Q118Q	p.Q298Q	NM_017426.2	NP_059122.2	WXS	Illumina GAIIx	Phase_I	Q7Z3B4	NUP54_HUMAN			6	1034	-			298			9 X 2 AA repeats of F-G.		B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Silent	SNP	ENST00000264883.3	37	c.894G>A	CCDS3576.1																																																																																				0.368	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			49	70	0	0	0	1	0	49	70					T	77053689	C	T	77053689	2	4	48	1	0	0	0	0	0	0	0	1	10776	912	32	3		3	NUP54	4	77053689	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	17096	77053689	114100587	1250	5718										
SHROOM3	57619	broad.mit.edu	37	chr4	77700186	77700186	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagctgggccaggagcaggtCaagtgtctgctggagagcct	16	9	2	1	rs376844685		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:77700186C>A	ENST00000296043.6	+	11	6800	c.5847C>A	c.(5845-5847)gtC>gtA	p.V1949V	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1949	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				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)			AGGAGCAGGTCAAGTGTCTGC	0.582																																						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.(5845-5847)gtC>gtA		shroom family member 3							99	104	102					4																	77700186		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.chr4:77700186C>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.5847C>A	4.37:g.77700186C>A			Somatic				RP11-359D14.3_ENST00000449007.1_RNA	p.V1949V	NM_020859.3	NP_065910.3	WXS	Illumina GAIIx	Phase_I	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		11	6800	+			1949			ASD2.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.5847C>A	CCDS3579.2																																																																																				0.582	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		44	93	1	0	2.01872e-29	1	2.87446e-29	44	93					A	77700186	C	A	77700186	2	1	48	1	0	0	0	0	0	0	0	1	14310	813	29	2		2	SHROOM3	4	77700186	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	646497	77700186	113454090	1251	5719										
CCNI	10983	broad.mit.edu	37	chr4	77969638	77969638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggcttgctgttgtccttggAgaagtctgggcctgggacag	16	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:77969638A>G	ENST00000237654.4	-	7	1444	c.868T>C	c.(868-870)Tcc>Ccc	p.S290P	CCNI_ENST00000537948.1_Missense_Mutation_p.S276P	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	290					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						TTGTCCTTGGAGAAGTCTGGG	0.532																																						ENST00000237654.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(868-870)Tcc>Ccc		cyclin I							147	144	145					4																	77969638		2203	4300	6503	SO:0001583	missense	10983				spermatogenesis			g.chr4:77969638A>G	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.868T>C	4.37:g.77969638A>G	ENSP00000237654:p.Ser290Pro		Somatic				CCNI_ENST00000537948.1_Missense_Mutation_p.S276P	p.S290P	NM_006835.2	NP_006826.1	WXS	Illumina GAIIx	Phase_I	Q14094	CCNI_HUMAN			7	1444	-			290					B2R6M0|B7Z6X4	Missense_Mutation	SNP	ENST00000237654.4	37	c.868T>C	CCDS3580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.07|13.07	2.128600|2.128600	0.37533|0.37533	.|.	.|.	ENSG00000118816|ENSG00000118816	ENST00000515468|ENST00000237654;ENST00000537948	.|T;T	.|0.55413	.|0.52;0.52	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.305973	.|0.41712	.|D	.|0.000830	T|T	0.42291|0.42291	0.1196|0.1196	L|L	0.31294|0.31294	0.92|0.92	0.49130|0.49130	D|D	0.999752|0.999752	.|B;B	.|0.10296	.|0.003;0.002	.|B;B	.|0.09377	.|0.003;0.004	T|T	0.21690|0.21690	-1.0238|-1.0238	5|10	.|0.25106	.|T	.|0.35	-3.3487|-3.3487	15.9745|15.9745	0.80049|0.80049	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|276;290	.|B7Z6X4;Q14094	.|.;CCNI_HUMAN	P|P	89|290;276	.|ENSP00000237654:S290P;ENSP00000441001:S276P	.|ENSP00000237654:S290P	L|S	-|-	2|1	0|0	CCNI|CCNI	78188662|78188662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	3.247000|3.247000	0.51422|0.51422	2.168000|2.168000	0.68352|0.68352	0.533000|0.533000	0.62120|0.62120	CTC|TCC		0.532	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835		41	60	0	0	0	1	0	41	60					G	77969638	A	G	77969638	3	3	48	1	0	0	0	0	1	0	0	0	2928	304	11	4	269	4	CCNI	4	77969638	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	269452	77969638	113184638	1252	5720										
PAQR3	152559	broad.mit.edu	37	chr4	79845024	79845024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacctacctggaaagtaccgCtctgggactttggaaatgta	10	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:79845024C>T	ENST00000512733.1	-	5	993	c.780G>A	c.(778-780)gaG>gaA	p.E260E	PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_Intron|PAQR3_ENST00000380645.4_Silent_p.E260E	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	260					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						GAAAGTACCGCTCTGGGACTT	0.368																																						ENST00000512733.1																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						c.(778-780)gaG>gaA		progestin and adipoQ receptor family member III							83	78	80					4																	79845024		2203	4300	6503	SO:0001819	synonymous_variant	152559					Golgi membrane|integral to membrane	receptor activity	g.chr4:79845024C>T	AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.780G>A	4.37:g.79845024C>T			Somatic				PAQR3_ENST00000380645.4_Silent_p.E260E|PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_Intron	p.E260E	NM_001040202.1	NP_001035292.1	WXS	Illumina GAIIx	Phase_I	Q6TCH7	PAQR3_HUMAN			5	993	-			260					A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Silent	SNP	ENST00000512733.1	37	c.780G>A	CCDS34020.1																																																																																				0.368	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	NM_177453		16	17	0	0	0	1	0	16	17					T	79845024	C	T	79845024	2	4	48	1	0	0	0	0	0	0	0	1	11445	796	28	3		3	PAQR3	4	79845024	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1875386	79845024	111309252	1253	5721										
HNRNPD	3184	broad.mit.edu	37	chr4	83280639	83280639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actaccttatctacactctcCgattctttaaatagcacaaa	2	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:83280639C>T	ENST00000313899.7	-	3	721	c.444G>A	c.(442-444)tcG>tcA	p.S148S	HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000543098.1_Silent_p.S96S|HNRNPD_ENST00000352301.4_Silent_p.S129S|HNRNPD_ENST00000353341.4_Silent_p.S148S|HNRNPD_ENST00000508119.1_5'Flank	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	148	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						CTACACTCTCCGATTCTTTAA	0.358																																						ENST00000313899.7																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(442-444)tcG>tcA		heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)							95	92	93					4																	83280639		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:83280639C>T	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.444G>A	4.37:g.83280639C>T			Somatic				HNRNPD_ENST00000543098.1_Silent_p.S96S|HNRNPD_ENST00000352301.4_Silent_p.S129S|HNRNPD_ENST00000353341.4_Silent_p.S148S|HNRNPD_ENST00000541060.1_Intron	p.S148S	NM_031370.2	NP_112738.1	WXS	Illumina GAIIx	Phase_I	Q14103	HNRPD_HUMAN			3	721	-			148			RRM 1.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Silent	SNP	ENST00000313899.7	37	c.444G>A	CCDS3592.1	.	.	.	.	.	.	.	.	.	.	C	8.865	0.947935	0.18356	.	.	ENSG00000138668	ENST00000514671	.	.	.	5.86	5.01	0.66863	.	.	.	.	.	T	0.55641	0.1933	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55270	-0.8167	4	.	.	.	.	5.7603	0.18196	0.2434:0.5685:0.1206:0.0675	.	.	.	.	R	52	.	.	G	-	1	0	HNRNPD	83499663	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.856000	0.27818	1.583000	0.49898	0.650000	0.86243	GGA		0.358	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		23	41	0	0	0	1	0	23	41					T	83280639	C	T	83280639	2	4	48	1	0	0	0	0	0	0	0	1	7273	639	23	1		1	HNRNPD	4	83280639	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3435615	83280639	107873637	1254	5722										
THAP9	79725	broad.mit.edu	37	chr4	83839057	83839057	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgacactagcaataatcaAataattaaaggtaagcaaaa	5	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:83839057A>G	ENST00000302236.5	+	5	1743	c.1692A>G	c.(1690-1692)caA>caG	p.Q564Q	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	564					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)				GCAATAATCAAATAATTAAAG	0.348																																						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.(1690-1692)caA>caG		THAP domain containing 9							42	43	42					4																	83839057		2203	4296	6499	SO:0001819	synonymous_variant	79725						DNA binding|metal ion binding	g.chr4:83839057A>G	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.1692A>G	4.37:g.83839057A>G			Somatic				LIN54_ENST00000505905.1_Intron	p.Q564Q	NM_024672.4	NP_078948.3	WXS	Illumina GAIIx	Phase_I	Q9H5L6	THAP9_HUMAN			5	1743	+		Hepatocellular(203;0.114)	564					B3KRE2|Q59AC9	Silent	SNP	ENST00000302236.5	37	c.1692A>G	CCDS3598.1																																																																																				0.348	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		21	29	0	0	0	1	0	21	29					G	83839057	A	G	83839057	2	3	48	1	0	0	0	0	0	0	0	1	15866	11	1	4		4	THAP9	4	83839057	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	558418	83839057	107315219	1255	5723										
WDFY3	23001	broad.mit.edu	37	chr4	85738736	85738736	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acctccaaattctcgaaaaaTtccttgaaggaaggagaaaa	7	8	1	2	rs368955541		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:85738736T>G	ENST00000295888.4	-	13	2103	c.1696A>C	c.(1696-1698)Att>Ctt	p.I566L	WDFY3_ENST00000322366.6_Missense_Mutation_p.I566L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	566					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)		TCTCGAAAAATTCCTTGAAGG	0.378																																						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.(1696-1698)Att>Ctt		WD repeat and FYVE domain containing 3							72	75	74					4																	85738736		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85738736T>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.1696A>C	4.37:g.85738736T>G	ENSP00000295888:p.Ile566Leu		Somatic				WDFY3_ENST00000295888.4_Missense_Mutation_p.I566L	p.I566L			WXS	Illumina GAIIx	Phase_I	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	13	2103	-		Hepatocellular(203;0.114)	566					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.1696A>C	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	4.039	0.004847	0.07866	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.61510	0.1;0.1	5.47	4.27	0.50696	Armadillo-like helical (1);	0.119674	0.64402	D	0.000018	T	0.20292	0.0488	N	0.00801	-1.175	0.38823	D	0.955689	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.04855	-1.0922	10	0.11182	T	0.66	.	4.6293	0.12493	0.1438:0.1448:0.0:0.7114	.	566;566	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	L	566	ENSP00000318466:I566L;ENSP00000295888:I566L	ENSP00000295888:I566L	I	-	1	0	WDFY3	85957760	0.991000	0.36638	0.993000	0.49108	0.953000	0.61014	1.293000	0.33353	0.891000	0.36235	0.460000	0.39030	ATT		0.378	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		8	62	0	0	0	1	0	8	62					G	85738736	T	G	85738736	3	3	48	1	0	0	0	0	1	0	0	0	17285	1493	52	4	9151	4	WDFY3	4	85738736	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1899679	85738736	105415540	1256	5724										
ARHGAP24	83478	broad.mit.edu	37	chr4	86844806	86844806	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgtgttttcacaggaggcGatcgagatcggatgacagca	13	8	1	2	rs571519833		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:86844806G>A	ENST00000395184.1	+	4	740	c.274G>A	c.(274-276)Gat>Aat	p.D92N	ARHGAP24_ENST00000503995.1_Missense_Mutation_p.D92N|ARHGAP24_ENST00000395183.2_5'UTR	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	92	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CACAGGAGGCGATCGAGATCG	0.483													G|||	1	0.000199681	8e-04	0	5008	,	,		17247	0		0	False		,,,				2504	0					ENST00000395184.1																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(274-276)Gat>Aat		Rho GTPase activating protein 24							81	75	77					4																	86844806		2203	4300	6503	SO:0001583	missense	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86844806G>A	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.274G>A	4.37:g.86844806G>A	ENSP00000378611:p.Asp92Asn		Somatic				ARHGAP24_ENST00000395183.2_5'UTR|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.D92N	p.D92N	NM_001025616.2	NP_001020787.2	WXS	Illumina GAIIx	Phase_I	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	4	740	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	92			PH.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	c.274G>A	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.608212	0.87258	.	.	ENSG00000138639	ENST00000395184;ENST00000503995;ENST00000514229	T;T;T	0.74947	-0.89;-0.89;2.28	6.03	6.03	0.97812	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.045412	0.85682	D	0.000000	T	0.72293	0.3442	L	0.29908	0.895	0.80722	D	1	D;B	0.54207	0.965;0.325	P;B	0.48552	0.581;0.052	T	0.68503	-0.5391	10	0.29301	T	0.29	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	92;92	Q8N264;Q8N264-4	RHG24_HUMAN;.	N	92;92;7	ENSP00000378611:D92N;ENSP00000423206:D92N;ENSP00000425589:D7N	ENSP00000378611:D92N	D	+	1	0	ARHGAP24	87063830	1.000000	0.71417	0.781000	0.31783	0.547000	0.35210	7.990000	0.88215	2.854000	0.98071	0.655000	0.94253	GAT		0.483	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		9	23	0	0	0	1	0	9	23					A	86844806	G	A	86844806	3	1	48	1	0	0	0	0	1	0	0	0	873	1058	37	1	284	1	ARHGAP24	4	86844806	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1106070	86844806	104309470	1257	5725										
MAPK10	5602	broad.mit.edu	37	chr4	86985420	86985420	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggcagcctatttcttaccGcctccacttcggctgggtca	9	14	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:86985420G>A	ENST00000359221.3	-	11	1635	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	MAPK10_ENST00000395166.1_Splice_Site_p.A332V|MAPK10_ENST00000395160.3_Splice_Site_p.A225V|MAPK10_ENST00000449047.2_Splice_Site_p.A225V|MAPK10_ENST00000361569.2_Splice_Site_p.A370V|MAPK10_ENST00000395161.2_Splice_Site_p.A370V|MAPK10_ENST00000395169.3_Splice_Site_p.A332V|MAPK10_ENST00000395157.3_Splice_Site_p.A225V			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	370					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)		ATTTCTTACCGCCTCCACTTC	0.433																																						ENST00000395169.3																			0				breast(1)|central_nervous_system(1)|stomach(1)	3						c.e11+1		mitogen-activated protein kinase 10							150	138	142					4																	86985420		2203	4300	6503	SO:0001630	splice_region_variant	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.chr4:86985420G>A	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.1110+1C>T	4.37:g.86985420G>A			Somatic				MAPK10_ENST00000449047.2_Splice_Site_p.A225_splice|MAPK10_ENST00000395160.3_Splice_Site_p.A225_splice|MAPK10_ENST00000361569.2_Splice_Site_p.A370_splice|MAPK10_ENST00000395166.1_Splice_Site_p.A332_splice|MAPK10_ENST00000359221.3_Splice_Site_p.A370_splice|MAPK10_ENST00000395157.3_Splice_Site_p.A225_splice|MAPK10_ENST00000395161.2_Splice_Site_p.A370_splice	p.A332_splice	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)	11	1715	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)	370			Protein kinase.		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Splice_Site	SNP	ENST00000359221.3	37	c.996_splice	CCDS34026.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361445	0.82353	.	.	ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161	D;D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.95	5.95	0.96441	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.82098	0.4963	M	0.78223	2.4	0.80722	D	1	P;P;P;P;P	0.45283	0.773;0.773;0.855;0.855;0.705	B;B;B;B;B	0.33042	0.026;0.075;0.157;0.157;0.055	T	0.82283	-0.0534	10	0.31617	T	0.26	-13.73	20.3931	0.98965	0.0:0.0:1.0:0.0	.	256;225;332;370;370	B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779	.;.;.;.;MK10_HUMAN	V	332;370;225;370;332;225;225;370	ENSP00000378598:A332V;ENSP00000352157:A370V;ENSP00000378586:A225V;ENSP00000355297:A370V;ENSP00000378595:A332V;ENSP00000378589:A225V;ENSP00000414469:A225V;ENSP00000378590:A370V	ENSP00000352157:A370V	A	-	2	0	MAPK10	87204444	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	9.813000	0.99286	2.824000	0.97209	0.655000	0.94253	GCG		0.433	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2		Missense_Mutation	24	53	0	0	0	1	0	24	53					A	86985420	G	A	86985420	5	1	48	1	0	0	0	0	0	0	1	0	9281	1101	38	1	306	1	MAPK10	4	86985420	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	140614	86985420	104168856	1258	5726										
PTPN13	5783	broad.mit.edu	37	chr4	87622929	87622929	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agacaaaagaaacttcaggtTctgagggaagccatgaatgt	11	6	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87622929T>C	ENST00000411767.2	+	7	1233	c.1170T>C	c.(1168-1170)gtT>gtC	p.V390V	PTPN13_ENST00000427191.2_Silent_p.V390V|PTPN13_ENST00000511467.1_Silent_p.V390V|PTPN13_ENST00000436978.1_Silent_p.V390V|PTPN13_ENST00000316707.6_Silent_p.V390V			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	390					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AACTTCAGGTTCTGAGGGAAG	0.358																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1168-1170)gtT>gtC		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							42	40	41					4																	87622929		1842	4090	5932	SO:0001819	synonymous_variant	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87622929T>C		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1170T>C	4.37:g.87622929T>C			Somatic				PTPN13_ENST00000411767.2_Silent_p.V390V|PTPN13_ENST00000427191.2_Silent_p.V390V|PTPN13_ENST00000511467.1_Silent_p.V390V|PTPN13_ENST00000316707.6_Silent_p.V390V	p.V390V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	WXS	Illumina GAIIx	Phase_I	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	7	1650	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	390					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	c.1170T>C	CCDS47094.1																																																																																				0.358	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			17	41	0	0	0	1	0	17	41					C	87622929	T	C	87622929	2	2	48	1	0	0	0	0	0	0	0	1	12795	1770	62	4		4	PTPN13	4	87622929	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	637509	87622929	103531347	1259	5727										
PTPN13	5783	broad.mit.edu	37	chr4	87684331	87684331	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccagcagtcaggatcatcaAacaccaaaacaggcatagtt	7	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87684331A>C	ENST00000411767.2	+	24	4068	c.4005A>C	c.(4003-4005)caA>caC	p.Q1335H	PTPN13_ENST00000427191.2_Missense_Mutation_p.Q1316H|PTPN13_ENST00000511467.1_Missense_Mutation_p.Q1335H|PTPN13_ENST00000436978.1_Missense_Mutation_p.Q1335H|PTPN13_ENST00000316707.6_Missense_Mutation_p.Q1144H			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1335					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGGATCATCAAACACCAAAAC	0.358																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(4003-4005)caA>caC		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							102	100	100					4																	87684331		1882	4121	6003	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87684331A>C		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4005A>C	4.37:g.87684331A>C	ENSP00000407249:p.Gln1335His		Somatic				PTPN13_ENST00000411767.2_Missense_Mutation_p.Q1335H|PTPN13_ENST00000427191.2_Missense_Mutation_p.Q1316H|PTPN13_ENST00000511467.1_Missense_Mutation_p.Q1335H|PTPN13_ENST00000316707.6_Missense_Mutation_p.Q1144H	p.Q1335H	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	WXS	Illumina GAIIx	Phase_I	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	24	4485	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1335					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.4005A>C	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	a	12.63	1.995019	0.35226	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.54675	0.57;0.63;0.68;0.56;0.63	5.45	-8.15	0.01065	.	0.677027	0.12453	N	0.467600	T	0.25901	0.0631	N	0.16478	0.41	0.09310	N	1	B;B;B;B	0.11235	0.003;0.004;0.0;0.001	B;B;B;B	0.11329	0.006;0.002;0.0;0.001	T	0.08146	-1.0736	10	0.45353	T	0.12	.	5.0157	0.14335	0.2395:0.1809:0.4814:0.0982	.	1144;1316;1335;1335	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	H	1316;1335;1144;1335;1335;1284	ENSP00000408368:Q1316H;ENSP00000394794:Q1335H;ENSP00000322675:Q1144H;ENSP00000407249:Q1335H;ENSP00000426626:Q1335H	ENSP00000322675:Q1144H	Q	+	3	2	PTPN13	87903355	0.000000	0.05858	0.014000	0.15608	0.977000	0.68977	-1.235000	0.02928	-1.783000	0.01274	0.524000	0.50904	CAA		0.358	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			26	81	0	0	0	1	0	26	81					C	87684331	A	C	87684331	3	2	48	1	0	0	0	0	1	0	0	0	12795	11	1	4	4095	4	PTPN13	4	87684331	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	61402	87684331	103469945	1260	5728										
SLC10A6	345274	broad.mit.edu	37	chr4	87770058	87770058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccaaactggcagagcagtcCcacagcaatgccccagggtc	10	16	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87770058C>T	ENST00000273905.6	-	1	358	c.211G>A	c.(211-213)Gga>Aga	p.G71R	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	71					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CAGAGCAGTCCCACAGCAATG	0.532																																						ENST00000273905.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(211-213)Gga>Aga		solute carrier family 10 (sodium/bile acid cotransporter), member 6							74	62	66					4																	87770058		2203	4300	6503	SO:0001583	missense	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87770058C>T	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"Solute carriers"	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.211G>A	4.37:g.87770058C>T	ENSP00000273905:p.Gly71Arg		Somatic				SLC10A6_ENST00000505535.1_5'UTR	p.G71R	NM_197965.2	NP_932069.1	WXS	Illumina GAIIx	Phase_I	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	1	358	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	71					Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	c.211G>A	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242454	0.95272	.	.	ENSG00000145283	ENST00000273905	T	0.15952	2.38	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	T	0.54743	0.1877	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65537	-0.6144	10	0.87932	D	0	-15.3787	17.6669	0.88205	0.0:1.0:0.0:0.0	.	71	Q3KNW5	SOAT_HUMAN	R	71	ENSP00000273905:G71R	ENSP00000273905:G71R	G	-	1	0	SLC10A6	87989082	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.711000	0.84669	2.768000	0.95171	0.655000	0.94253	GGA		0.532	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		19	47	0	0	0	1	0	19	47					T	87770058	C	T	87770058	3	4	48	1	0	0	0	0	1	0	0	0	14393	632	22	3	946	3	SLC10A6	4	87770058	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	85727	87770058	103384218	1261	5729										
SLC10A6	345274	broad.mit.edu	37	chr4	87770114	87770114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acagcttccggatctccacgGaacatcccaaagagaacatg	8	13	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87770114G>A	ENST00000273905.6	-	1	302	c.155C>T	c.(154-156)tCc>tTc	p.S52F	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	52					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)	p.S52Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GATCTCCACGGAACATCCCAA	0.557																																						ENST00000273905.6																			1	Substitution - Missense(1)	p.S52Y(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(154-156)tCc>tTc		solute carrier family 10 (sodium/bile acid cotransporter), member 6							76	56	63					4																	87770114		2203	4300	6503	SO:0001583	missense	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87770114G>A	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"Solute carriers"	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.155C>T	4.37:g.87770114G>A	ENSP00000273905:p.Ser52Phe		Somatic				SLC10A6_ENST00000505535.1_5'UTR	p.S52F	NM_197965.2	NP_932069.1	WXS	Illumina GAIIx	Phase_I	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	1	302	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	52					Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	c.155C>T	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348906	0.61183	.	.	ENSG00000145283	ENST00000273905	T	0.11385	2.78	5.85	5.85	0.93711	.	0.077043	0.52532	D	0.000068	T	0.31389	0.0795	M	0.62723	1.935	0.50813	D	0.999895	D	0.64830	0.994	D	0.67103	0.949	T	0.00316	-1.1823	10	0.87932	D	0	-7.349	17.6669	0.88205	0.0:0.0:1.0:0.0	.	52	Q3KNW5	SOAT_HUMAN	F	52	ENSP00000273905:S52F	ENSP00000273905:S52F	S	-	2	0	SLC10A6	87989138	1.000000	0.71417	0.981000	0.43875	0.031000	0.12232	6.294000	0.72738	2.768000	0.95171	0.655000	0.94253	TCC		0.557	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		10	31	0	0	0	1	0	10	31					A	87770114	G	A	87770114	3	1	48	1	0	0	0	0	1	0	0	0	14393	1174	41	3	1002	3	SLC10A6	4	87770114	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	56	87770114	103384162	1262	5730										
AFF1	4299	broad.mit.edu	37	chr4	87967346	87967346	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgacgacagaaacctgcttCgaattagagagaaggaaaga	11	6	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87967346C>T	ENST00000307808.6	+	2	466	c.46C>T	c.(46-48)Cga>Tga	p.R16*	AFF1_ENST00000395146.4_Nonsense_Mutation_p.R23*|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	16					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)		AAACCTGCTTCGAATTAGAGA	0.403																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(46-48)Cga>Tga		AF4/FMR2 family, member 1							99	98	98					4																	87967346		2203	4300	6503	SO:0001587	stop_gained	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87967346C>T	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.46C>T	4.37:g.87967346C>T	ENSP00000305689:p.Arg16*		Somatic				AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Nonsense_Mutation_p.R23*	p.R16*	NM_005935.2	NP_005926.1	WXS	Illumina GAIIx	Phase_I	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	2	466	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	16					B4DTU1|E9PBM3	Nonsense_Mutation	SNP	ENST00000307808.6	37	c.46C>T	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	37	6.520107	0.97633	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000507468;ENST00000503477;ENST00000307808	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0522	20.27	0.98469	0.0:1.0:0.0:0.0	.	.	.	.	X	23;23;23;23;16	.	ENSP00000305689:R16X	R	+	1	2	AFF1	88186370	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.568000	0.73987	2.854000	0.98071	0.655000	0.94253	CGA		0.403	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		33	67	0	0	0	1	0	33	67					T	87967346	C	T	87967346	4	4	48	1	0	0	0	0	0	1	0	0	356	876	31	1	94	1	AFF1	4	87967346	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	197232	87967346	103186930	1263	5731										
SPARCL1	8404	broad.mit.edu	37	chr4	88400658	88400658	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggggtcacactcctcaaaGaaacgggttatgcagtgttc	11	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:88400658G>T	ENST00000282470.6	-	10	2360	c.1890C>A	c.(1888-1890)ttC>ttA	p.F630L	SPARCL1_ENST00000503414.1_Missense_Mutation_p.F505L|SPARCL1_ENST00000418378.1_Missense_Mutation_p.F630L	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	630	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)		ACTCCTCAAAGAAACGGGTTA	0.463																																						ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(1888-1890)ttC>ttA		SPARC-like 1 (hevin)							154	137	142					4																	88400658		2203	4300	6503	SO:0001583	missense	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88400658G>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.1890C>A	4.37:g.88400658G>T	ENSP00000282470:p.Phe630Leu		Somatic				SPARCL1_ENST00000282470.6_Missense_Mutation_p.F630L|SPARCL1_ENST00000503414.1_Missense_Mutation_p.F505L	p.F630L	NM_001128310.1	NP_001121782.1	WXS	Illumina GAIIx	Phase_I	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	11	2461	-			630			EF-hand.		B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	c.1890C>A	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547436	0.86022	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.55930	1.11;1.11;0.49	5.11	4.26	0.50523	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71508	0.3348	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74979	-0.3479	10	0.87932	D	0	-11.4013	9.5697	0.39420	0.1623:0.0:0.8377:0.0	.	630	Q14515	SPRL1_HUMAN	L	630;630;505;505	ENSP00000282470:F630L;ENSP00000414856:F630L;ENSP00000422903:F505L	ENSP00000282470:F630L	F	-	3	2	SPARCL1	88619682	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.119000	0.50422	1.481000	0.48307	0.655000	0.94253	TTC		0.463	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			28	78	1	0	2.41591e-17	1	3.2383e-17	28	78					T	88400658	G	T	88400658	3	4	48	1	0	0	0	0	1	0	0	0	15011	933	33	2	112	2	SPARCL1	4	88400658	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	433312	88400658	102753618	1264	5732										
MEPE	56955	broad.mit.edu	37	chr4	88766288	88766288	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtagtaaatctcaaaattatTtcacaaatagacagagactg	6	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:88766288T>C	ENST00000424957.3	+	4	341	c.268T>C	c.(268-270)Ttc>Ctc	p.F90L	MEPE_ENST00000497649.2_Missense_Mutation_p.F66L|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.F121L|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000511670.1_3'UTR|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.F90L	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	90					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TCAAAATTATTTCACAAATAG	0.338																																						ENST00000497649.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(196-198)Ttc>Ctc		matrix extracellular phosphoglycoprotein							57	61	59					4																	88766288		2203	4299	6502	SO:0001583	missense	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766288T>C	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.268T>C	4.37:g.88766288T>C	ENSP00000416984:p.Phe90Leu		Somatic				MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000361056.3_Missense_Mutation_p.F90L|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000511670.1_3'UTR|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.F121L|MEPE_ENST00000424957.3_Missense_Mutation_p.F90L	p.F66L			WXS	Illumina GAIIx	Phase_I	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	6	574	+		Hepatocellular(203;0.114)	90					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	c.196T>C	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	T	0.695	-0.793188	0.02862	.	.	ENSG00000152595	ENST00000535138;ENST00000424957;ENST00000395102;ENST00000497649;ENST00000361056	T;T;T;T	0.41758	4.37;1.0;0.99;4.37	4.99	1.12	0.20585	.	0.901960	0.09326	N	0.817582	T	0.22166	0.0534	N	0.20807	0.61	0.09310	N	0.999999	B	0.13145	0.007	B	0.16722	0.016	T	0.29305	-1.0016	10	0.02654	T	1	5.5853	6.596	0.22674	0.0:0.3113:0.0:0.6887	.	90	Q9NQ76	MEPE_HUMAN	L	90;90;121;66;90	ENSP00000416984:F90L;ENSP00000378534:F121L;ENSP00000422747:F66L;ENSP00000354341:F90L	ENSP00000354341:F90L	F	+	1	0	MEPE	88985312	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.072000	0.14617	0.054000	0.16065	-0.408000	0.06270	TTC		0.338	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			23	42	0	0	0	1	0	23	42					C	88766288	T	C	88766288	3	2	48	1	0	0	0	0	1	0	0	0	9487	1841	64	4	278	4	MEPE	4	88766288	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	365630	88766288	102387988	1265	5733										
MEPE	56955	broad.mit.edu	37	chr4	88766449	88766449	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catgaccaagaagaatatggCgcagctctcatcagaaataa	8	9	2	4	rs145299039		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:88766449C>T	ENST00000424957.3	+	4	502	c.429C>T	c.(427-429)ggC>ggT	p.G143G	MEPE_ENST00000497649.2_Silent_p.G119G|MEPE_ENST00000540395.1_Silent_p.G30G|MEPE_ENST00000395102.4_Silent_p.G174G|MEPE_ENST00000560249.1_Silent_p.G30G|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Silent_p.G143G	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	143					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAGAATATGGCGCAGCTCTCA	0.428													C|||	1	0.000199681	0	0	5008	,	,		17076	0		0.001	False		,,,				2504	0					ENST00000497649.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(355-357)ggC>ggT		matrix extracellular phosphoglycoprotein							67	66	66					4																	88766449		2203	4300	6503	SO:0001819	synonymous_variant	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766449C>T	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.429C>T	4.37:g.88766449C>T			Somatic				MEPE_ENST00000560249.1_Silent_p.G30G|MEPE_ENST00000361056.3_Silent_p.G143G|MEPE_ENST00000540395.1_Silent_p.G30G|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Silent_p.G174G|MEPE_ENST00000424957.3_Silent_p.G143G	p.G119G			WXS	Illumina GAIIx	Phase_I	Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	6	735	+		Hepatocellular(203;0.114)	143					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Silent	SNP	ENST00000424957.3	37	c.357C>T	CCDS3625.1																																																																																				0.428	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			29	49	0	0	0	1	0	29	49					T	88766449	C	T	88766449	2	4	48	1	0	0	0	0	0	0	0	1	9487	755	27	1		1	MEPE	4	88766449	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	161	88766449	102387827	1266	5734										
ABCG2	9429	broad.mit.edu	37	chr4	89052995	89052995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacatttgaaattggcaggtCgcggtgctccatttatcaga	10	8	1	2	rs199578838		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:89052995C>T	ENST00000237612.3	-	4	883	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	ABCG2_ENST00000515655.1_Missense_Mutation_p.R113Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	113	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	ATTGGCAGGTCGCGGTGCTCC	0.393																																						ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(337-339)cGa>cAa		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						98	91	93					4																	89052995		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89052995C>T	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.338G>A	4.37:g.89052995C>T	ENSP00000237612:p.Arg113Gln		Somatic				ABCG2_ENST00000515655.1_Missense_Mutation_p.R113Q	p.R113Q	NM_004827.2	NP_004818.2	WXS	Illumina GAIIx	Phase_I	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	4	883	-		Hepatocellular(203;0.114)	113			ABC transporter.		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.338G>A	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	8.940	0.965615	0.18583	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	D;D	0.93712	-3.27;-3.27	5.42	0.583	0.17417	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.179846	0.50627	N	0.000109	D	0.82917	0.5141	N	0.17082	0.46	0.27922	N	0.93821	B;B	0.15719	0.014;0.009	B;B	0.11329	0.006;0.003	T	0.68153	-0.5484	10	0.14656	T	0.56	3.9295	7.2445	0.26114	0.0:0.345:0.0:0.655	.	113;113	Q9UNQ0-2;Q9UNQ0	.;ABCG2_HUMAN	Q	113	ENSP00000426917:R113Q;ENSP00000237612:R113Q	ENSP00000237612:R113Q	R	-	2	0	ABCG2	89272019	0.972000	0.33761	0.634000	0.29324	0.258000	0.26162	1.310000	0.33551	0.209000	0.20645	0.655000	0.94253	CGA		0.393	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		7	24	0	0	0	1	0	7	24					T	89052995	C	T	89052995	3	4	48	1	0	0	0	0	1	0	0	0	69	884	31	1	1681	1	ABCG2	4	89052995	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	286546	89052995	102101281	1267	5735										
HERC3	8916	broad.mit.edu	37	chr4	89577136	89577136	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taatgttaagtgcccatctcCtgtcaagggttactgggctg	11	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:89577136C>A	ENST00000402738.1	+	9	1258	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H	HERC3_ENST00000543130.1_5'Flank|HERC3_ENST00000407637.1_Missense_Mutation_p.P340H|HERC3_ENST00000264345.3_Missense_Mutation_p.P340H	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	340					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TGCCCATCTCCTGTCAAGGGT	0.463																																						ENST00000402738.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45						c.(1018-1020)cCt>cAt		HECT and RLD domain containing E3 ubiquitin protein ligase 3							132	122	125					4																	89577136		2203	4300	6503	SO:0001583	missense	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89577136C>A	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.1019C>A	4.37:g.89577136C>A	ENSP00000385684:p.Pro340His		Somatic				HERC3_ENST00000264345.3_Missense_Mutation_p.P340H|HERC3_ENST00000407637.1_Missense_Mutation_p.P340H	p.P340H	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	WXS	Illumina GAIIx	Phase_I	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	9	1258	+			340					A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	c.1019C>A	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057490	0.55325	.	.	ENSG00000138641	ENST00000402738;ENST00000407637;ENST00000264345	D;D;D	0.85013	-1.93;-1.93;-1.93	4.77	4.77	0.60923	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.185115	0.48286	D	0.000200	D	0.89501	0.6733	M	0.71206	2.165	0.80722	D	1	P;D	0.89917	0.88;1.0	P;D	0.65323	0.838;0.934	D	0.87282	0.2293	10	0.28530	T	0.3	.	11.462	0.50217	0.0:0.9185:0.0:0.0815	.	340;340	Q15034;Q8IXX3	HERC3_HUMAN;.	H	340	ENSP00000385684:P340H;ENSP00000384005:P340H;ENSP00000264345:P340H	ENSP00000264345:P340H	P	+	2	0	HERC3	89796159	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.347000	0.59373	2.489000	0.83994	0.655000	0.94253	CCT		0.463	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		23	33	1	0	9.95505e-16	1	1.31587e-15	23	33					A	89577136	C	A	89577136	3	1	48	1	0	0	0	0	1	0	0	0	7068	681	24	5	1045	5	HERC3	4	89577136	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	524141	89577136	101577140	1268	5736										
MMRN1	22915	broad.mit.edu	37	chr4	90816240	90816240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaactctcagaagactatgCcttctgcttcagttcctcca	7	13	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:90816240C>T	ENST00000394980.1	+	2	437	c.118C>T	c.(118-120)Cct>Tct	p.P40S	MMRN1_ENST00000394981.1_Missense_Mutation_p.P40S|MMRN1_ENST00000264790.2_Missense_Mutation_p.P40S			Q13201	MMRN1_HUMAN	multimerin 1	40					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)		GAAGACTATGCCTTCTGCTTC	0.448																																						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.(118-120)Cct>Tct		multimerin 1							80	88	85					4																	90816240		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90816240C>T	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.118C>T	4.37:g.90816240C>T	ENSP00000378431:p.Pro40Ser		Somatic				MMRN1_ENST00000264790.2_Missense_Mutation_p.P40S|MMRN1_ENST00000394981.1_Missense_Mutation_p.P40S	p.P40S			WXS	Illumina GAIIx	Phase_I	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	2	437	+		Hepatocellular(203;0.114)	40					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.118C>T	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	C	7.804	0.714296	0.15306	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981	T;T;T	0.69435	0.28;0.28;-0.4	4.67	-4.62	0.03370	.	0.778991	0.11199	N	0.589080	T	0.32194	0.0821	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.09377	0.0;0.004	T	0.19910	-1.0291	10	0.17832	T	0.49	.	0.4684	0.00528	0.2632:0.1518:0.2937:0.2913	.	40;40	Q13201-2;Q13201	.;MMRN1_HUMAN	S	40	ENSP00000378431:P40S;ENSP00000264790:P40S;ENSP00000378432:P40S	ENSP00000264790:P40S	P	+	1	0	MMRN1	91035263	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.081000	0.14823	-0.506000	0.06558	-0.363000	0.07495	CCT		0.448	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		23	47	0	0	0	1	0	23	47					T	90816240	C	T	90816240	3	4	48	1	0	0	0	0	1	0	0	0	9679	739	26	3	120	3	MMRN1	4	90816240	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1239104	90816240	100338036	1269	5737										
MMRN1	22915	broad.mit.edu	37	chr4	90856726	90856726	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttccaatggacaataagaTggacaaaatgagtgagcaac	9	7	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:90856726T>G	ENST00000394980.1	+	7	2214	c.1895T>G	c.(1894-1896)aTg>aGg	p.M632R	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.M374R|MMRN1_ENST00000264790.2_Missense_Mutation_p.M632R			Q13201	MMRN1_HUMAN	multimerin 1	632					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)		GACAATAAGATGGACAAAATG	0.358																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(1894-1896)aTg>aGg		multimerin 1							81	79	80					4																	90856726		2203	4299	6502	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90856726T>G	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.1895T>G	4.37:g.90856726T>G	ENSP00000378431:p.Met632Arg		Somatic				MMRN1_ENST00000508372.1_Missense_Mutation_p.M374R|MMRN1_ENST00000264790.2_Missense_Mutation_p.M632R|MMRN1_ENST00000394981.1_Intron	p.M632R			WXS	Illumina GAIIx	Phase_I	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	2214	+		Hepatocellular(203;0.114)	632					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.1895T>G	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.015016	0.35511	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.69175	-0.06;-0.06;-0.38	5.06	5.06	0.68205	.	0.184455	0.48286	D	0.000183	T	0.72399	0.3455	M	0.62723	1.935	0.80722	D	1	D	0.62365	0.991	P	0.51016	0.656	T	0.76669	-0.2874	10	0.66056	D	0.02	.	15.5236	0.75885	0.0:0.0:0.0:1.0	.	632	Q13201	MMRN1_HUMAN	R	632;632;374	ENSP00000378431:M632R;ENSP00000264790:M632R;ENSP00000426461:M374R	ENSP00000264790:M632R	M	+	2	0	MMRN1	91075749	1.000000	0.71417	0.998000	0.56505	0.696000	0.40369	5.148000	0.64857	2.194000	0.70268	0.533000	0.62120	ATG		0.358	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		34	44	0	0	0	1	0	34	44					G	90856726	T	G	90856726	3	3	48	1	0	0	0	0	1	0	0	0	9679	1464	51	4	1917	4	MMRN1	4	90856726	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	40486	90856726	100297550	1270	5738										
MMRN1	22915	broad.mit.edu	37	chr4	90857447	90857447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagtctaaagttacccagacGctcataccttattatatttc	5	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:90857447G>A	ENST00000394980.1	+	7	2935	c.2616G>A	c.(2614-2616)acG>acA	p.T872T	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Silent_p.T614T|MMRN1_ENST00000264790.2_Silent_p.T872T			Q13201	MMRN1_HUMAN	multimerin 1	872					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)		TTACCCAGACGCTCATACCTT	0.343																																						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.(2614-2616)acG>acA		multimerin 1							39	42	41					4																	90857447		2201	4294	6495	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857447G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2616G>A	4.37:g.90857447G>A			Somatic				MMRN1_ENST00000508372.1_Silent_p.T614T|MMRN1_ENST00000264790.2_Silent_p.T872T|MMRN1_ENST00000394981.1_Intron	p.T872T			WXS	Illumina GAIIx	Phase_I	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	2935	+		Hepatocellular(203;0.114)	872					Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.2616G>A	CCDS3635.1																																																																																				0.343	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		10	17	0	0	0	1	0	10	17					A	90857447	G	A	90857447	2	1	48	1	0	0	0	0	0	0	0	1	9679	1074	38	1		1	MMRN1	4	90857447	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	721	90857447	100296829	1271	5739										
GRID2	2895	broad.mit.edu	37	chr4	93511403	93511403	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acattttcagtgacgtttgtTgatggcaacaaccctttcca	7	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:93511403T>G	ENST00000282020.4	+	2	468	c.210T>G	c.(208-210)gtT>gtG	p.V70V	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Silent_p.V70V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	70					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)		TGACGTTTGTTGATGGCAACA	0.383																																						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.(208-210)gtT>gtG		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						163	158	160					4																	93511403		2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:93511403T>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.210T>G	4.37:g.93511403T>G			Somatic				GRID2_ENST00000510992.1_Silent_p.V70V|GRID2_ENST00000505687.1_3'UTR	p.V70V	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)	2	468	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	70					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.210T>G	CCDS3637.1																																																																																				0.383	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			30	67	0	0	0	1	0	30	67					G	93511403	T	G	93511403	2	3	48	1	0	0	0	0	0	0	0	1	6781	1799	63	4		4	GRID2	4	93511403	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2653956	93511403	97642873	1272	5740										
GRID2	2895	broad.mit.edu	37	chr4	94344033	94344033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actacctgggttttaactacGaaatttacgtagcaccggat	8	9	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:94344033G>A	ENST00000282020.4	+	10	1717	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	GRID2_ENST00000510992.1_Missense_Mutation_p.E392K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	487					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.E487Q(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)		TTTTAACTACGAAATTTACGT	0.418																																						ENST00000282020.4																			1	Substitution - Missense(1)	p.E487Q(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1459-1461)Gaa>Aaa		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						119	119	119					4																	94344033		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.chr4:94344033G>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1459G>A	4.37:g.94344033G>A	ENSP00000282020:p.Glu487Lys		Somatic				GRID2_ENST00000510992.1_Missense_Mutation_p.E392K	p.E487K	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)	10	1717	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	487					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1459G>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444054	0.96187	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.32272	1.46;1.46	5.23	5.23	0.72850	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	0.27205	0.0667	L	0.52759	1.655	0.80722	D	1	P;P	0.41188	0.616;0.741	B;B	0.28709	0.035;0.093	T	0.10019	-1.0648	10	0.40728	T	0.16	.	18.8133	0.92068	0.0:0.0:1.0:0.0	.	392;487	E9PH24;O43424	.;GRID2_HUMAN	K	487;392	ENSP00000282020:E487K;ENSP00000421257:E392K	ENSP00000282020:E487K	E	+	1	0	GRID2	94563056	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.864000	0.99589	2.438000	0.82558	0.650000	0.86243	GAA		0.418	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			16	33	0	0	0	1	0	16	33					A	94344033	G	A	94344033	3	1	48	1	0	0	0	0	1	0	0	0	6781	1059	37	1	1497	1	GRID2	4	94344033	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	832630	94344033	96810243	1273	5741										
SMARCAD1	56916	broad.mit.edu	37	chr4	95158103	95158103	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcttttctcgttctgttagTtgattgaatcaacaagcact	6	8	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:95158103T>G	ENST00000354268.4	+	5	611	c.538T>G	c.(538-540)Ttg>Gtg	p.L180V	SMARCAD1_ENST00000457823.2_Splice_Site_p.L180V			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	180	CUE 1. {ECO:0000255|PROSITE- ProRule:PRU00468}.				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)		GTTCTGTTAGTTGATTGAATC	0.318																																						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.e5-1		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							127	118	121					4																	95158103		2203	4300	6503	SO:0001630	splice_region_variant	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.chr4:95158103T>G	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.538-1T>G	4.37:g.95158103T>G			Somatic				SMARCAD1_ENST00000457823.2_Splice_Site_p.L180_splice	p.L180_splice			WXS	Illumina GAIIx	Phase_I	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	5	611	+			180			CUE 1.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Splice_Site	SNP	ENST00000354268.4	37	c.537_splice	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.801978	0.31869	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	T;T;T	0.15256	2.44;2.44;2.44	5.07	2.48	0.30137	Ubiquitin system component Cue (1);	0.000000	0.32430	N	0.006116	T	0.06600	0.0169	N	0.11560	0.145	0.80722	D	1	B;P	0.35745	0.384;0.518	B;B	0.32533	0.07;0.147	T	0.37056	-0.9722	9	.	.	.	-9.5967	4.5873	0.12289	0.0:0.1012:0.197:0.7018	.	180;180	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	V	180	ENSP00000351947:L180V;ENSP00000415576:L180V;ENSP00000346217:L180V	.	L	+	1	2	SMARCAD1	95377126	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.345000	0.33953	0.893000	0.36288	0.477000	0.44152	TTG		0.318	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159	Missense_Mutation	13	35	0	0	0	1	0	13	35					G	95158103	T	G	95158103	5	3	48	1	0	0	0	0	0	0	1	0	14787	1739	60	4	552	4	SMARCAD1	4	95158103	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	814070	95158103	95996173	1274	5742										
SMARCAD1	56916	broad.mit.edu	37	chr4	95196044	95196044	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgtttttaaattctaggttCtcaagaagaacgtaaacaaa	6	5	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:95196044C>A	ENST00000354268.4	+	14	1809	c.1736C>A	c.(1735-1737)tCt>tAt	p.S579Y	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.S149Y|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.S579Y			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	579	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)		ATTCTAGGTTCTCAAGAAGAA	0.284																																						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.(1735-1737)tCt>tAt		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							77	83	81					4																	95196044		2201	4296	6497	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.chr4:95196044C>A	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.1736C>A	4.37:g.95196044C>A	ENSP00000346217:p.Ser579Tyr		Somatic				SMARCAD1_ENST00000457823.2_Missense_Mutation_p.S579Y|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.S149Y	p.S579Y			WXS	Illumina GAIIx	Phase_I	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	14	1809	+			579			Helicase ATP-binding.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.1736C>A	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553068	0.65425	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.93811	-3.21;-3.21;-3.21;-3.29	5.55	4.71	0.59529	DEAD-like helicase (2);SNF2-related (1);	0.282661	0.25456	N	0.030545	D	0.97461	0.9169	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98292	1.0514	10	0.87932	D	0	-15.2551	14.67	0.68937	0.0:0.9301:0.0:0.0699	.	579;579	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	Y	579;579;579;149	ENSP00000351947:S579Y;ENSP00000415576:S579Y;ENSP00000346217:S579Y;ENSP00000423286:S149Y	ENSP00000346217:S579Y	S	+	2	0	SMARCAD1	95415067	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	5.480000	0.66820	1.377000	0.46286	-0.224000	0.12420	TCT		0.284	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		17	23	1	0	9.16793e-09	1	1.08598e-08	17	23					A	95196044	C	A	95196044	3	1	48	1	0	0	0	0	1	0	0	0	14787	913	32	2	1786	2	SMARCAD1	4	95196044	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	37941	95196044	95958232	1275	5743										
SMARCAD1	56916	broad.mit.edu	37	chr4	95200129	95200129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgcagttgaggaaaatggcCaatcatcctttattacatcg	8	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:95200129C>T	ENST00000354268.4	+	19	2419	c.2346C>T	c.(2344-2346)gcC>gcT	p.A782A	SMARCAD1_ENST00000509418.1_Silent_p.A352A|SMARCAD1_ENST00000457823.2_Silent_p.A784A			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	782					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)		GGAAAATGGCCAATCATCCTT	0.343																																						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.(2344-2346)gcC>gcT		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							116	110	112					4																	95200129		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:95200129C>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.2346C>T	4.37:g.95200129C>T			Somatic				SMARCAD1_ENST00000457823.2_Silent_p.A784A|SMARCAD1_ENST00000509418.1_Silent_p.A352A	p.A782A			WXS	Illumina GAIIx	Phase_I	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	19	2419	+			782					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Silent	SNP	ENST00000354268.4	37	c.2346C>T	CCDS3639.1																																																																																				0.343	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		7	16	0	0	0	1	0	7	16					T	95200129	C	T	95200129	2	4	48	1	0	0	0	0	0	0	0	1	14787	581	21	3		3	SMARCAD1	4	95200129	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4085	95200129	95954147	1276	5744										
SMARCAD1	56916	broad.mit.edu	37	chr4	95201893	95201893	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttagattctggaaaatttCgagttttaggatgcatcttg	9	4	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:95201893C>T	ENST00000354268.4	+	20	2642	c.2569C>T	c.(2569-2571)Cga>Tga	p.R857*	SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.R427*|SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.R859*			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	857					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)		TGGAAAATTTCGAGTTTTAGG	0.308																																						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.(2569-2571)Cga>Tga		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							122	127	125					4																	95201893		2203	4300	6503	SO:0001587	stop_gained	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.chr4:95201893C>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.2569C>T	4.37:g.95201893C>T	ENSP00000346217:p.Arg857*		Somatic				SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.R859*|SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.R427*	p.R857*			WXS	Illumina GAIIx	Phase_I	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	20	2642	+			857					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Nonsense_Mutation	SNP	ENST00000354268.4	37	c.2569C>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	40	8.262102	0.98732	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	.	.	.	5.66	4.73	0.59995	.	0.225469	0.22811	N	0.055359	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-1.2706	11.2597	0.49076	0.4003:0.5997:0.0:0.0	.	.	.	.	X	859;859;857;427	.	ENSP00000346217:R857X	R	+	1	2	SMARCAD1	95420916	0.913000	0.31002	0.997000	0.53966	0.993000	0.82548	1.429000	0.34903	2.673000	0.90976	0.650000	0.86243	CGA		0.308	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		41	59	0	0	0	1	0	41	59					T	95201893	C	T	95201893	4	4	48	1	0	0	0	0	0	1	0	0	14787	876	31	1	2649	1	SMARCAD1	4	95201893	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1764	95201893	95952383	1277	5745										
EIF4E	1977	broad.mit.edu	37	chr4	99823086	99823086	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaacctcctgattagattcCgttttctcctcttctgtagt	6	12	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:99823086C>T	ENST00000450253.2	-	2	1590	c.66G>A	c.(64-66)acG>acA	p.T22T	EIF4E_ENST00000505992.1_Silent_p.T22T|EIF4E_ENST00000504472.1_5'UTR|EIF4E_ENST00000504432.1_Silent_p.T50T|EIF4E_ENST00000280892.6_Silent_p.T42T	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	22					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)	p.T22T(2)		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)		GATTAGATTCCGTTTTCTCCT	0.388																																						ENST00000450253.2																			2	Substitution - coding silent(2)	p.T22T(2)	lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13						c.(64-66)acG>acA		eukaryotic translation initiation factor 4E							157	158	157					4																	99823086		2203	4299	6502	SO:0001819	synonymous_variant	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.chr4:99823086C>T	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.66G>A	4.37:g.99823086C>T			Somatic				EIF4E_ENST00000280892.6_Silent_p.T42T|EIF4E_ENST00000504472.1_5'UTR|EIF4E_ENST00000504432.1_Silent_p.T50T|EIF4E_ENST00000505992.1_Silent_p.T22T	p.T22T	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	1590	-			22					B7Z6V1|D6RCQ6|Q96E95	Silent	SNP	ENST00000450253.2	37	c.66G>A	CCDS34031.1	.	.	.	.	.	.	.	.	.	.	C	9.606	1.130082	0.21041	.	.	ENSG00000151247	ENST00000511644	.	.	.	5.85	1.8	0.24995	.	.	.	.	.	T	0.44052	0.1275	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34004	-0.9846	4	.	.	.	0.0528	2.595	0.04852	0.1879:0.0748:0.1908:0.5466	.	.	.	.	R	19	.	.	G	-	1	0	EIF4E	100042109	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	0.690000	0.25451	1.138000	0.42230	-0.311000	0.09066	GGA		0.388	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968		41	88	0	0	0	1	0	41	88					T	99823086	C	T	99823086	2	4	48	1	0	0	0	0	0	0	0	1	5030	639	23	1		1	EIF4E	4	99823086	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4621193	99823086	91331190	1278	5746										
ADH6	130	broad.mit.edu	37	chr4	100129875	100129875	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcagaagtctataccagcatCtgtcatatcaaataaaactt	5	9	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:100129875C>T	ENST00000237653.7	-	6	1162	c.778G>A	c.(778-780)Gat>Aat	p.D260N	ADH6_ENST00000394899.2_Missense_Mutation_p.D260N|ADH6_ENST00000407820.2_Missense_Mutation_p.D51N|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Missense_Mutation_p.D260N|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	260					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	ATACCAGCATCTGTCATATCA	0.408																																						ENST00000394897.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(778-780)Gat>Aat		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)						210	223	219					4																	100129875		2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100129875C>T	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"Alcohol dehydrogenases"	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.778G>A	4.37:g.100129875C>T	ENSP00000237653:p.Asp260Asn		Somatic				ADH6_ENST00000394899.2_Missense_Mutation_p.D260N|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.D260N|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.D51N|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000504257.1_5'UTR	p.D260N			WXS	Illumina GAIIx	Phase_I	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	6	860	-			260					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.778G>A	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110845	0.37242	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000407820;ENST00000237653;ENST00000508558	T;T;T;T;T	0.22743	3.74;1.94;1.94;1.94;3.74	4.71	2.89	0.33648	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.530450	0.22742	N	0.056200	T	0.13756	0.0333	N	0.16656	0.425	0.20403	N	0.999902	B;B;B;B	0.15141	0.011;0.001;0.012;0.002	B;B;B;B	0.17979	0.02;0.012;0.012;0.002	T	0.23368	-1.0190	10	0.56958	D	0.05	-8.835	12.0476	0.53489	0.0:0.8463:0.0:0.1537	.	137;260;260;260	B4DPD8;E9PBI1;P28332;P28332-2	.;.;ADH6_HUMAN;.	N	260;260;51;260;196	ENSP00000378358:D260N;ENSP00000378359:D260N;ENSP00000384997:D51N;ENSP00000237653:D260N;ENSP00000426187:D196N	ENSP00000237653:D260N	D	-	1	0	ADH6	100348898	0.000000	0.05858	0.004000	0.12327	0.306000	0.27790	0.574000	0.23714	1.060000	0.40578	0.557000	0.71058	GAT		0.408	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		81	186	0	0	0	1	0	81	186					T	100129875	C	T	100129875	3	4	48	1	0	0	0	0	1	0	0	0	312	913	32	3	369	3	ADH6	4	100129875	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	306789	100129875	91024401	1279	5747										
ADH6	130	broad.mit.edu	37	chr4	100130081	100130081	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagcacaggtagaacctggaGtcacctaaacacatacaggc	9	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:100130081G>T	ENST00000237653.7	-	6	956	c.572C>A	c.(571-573)aCt>aAt	p.T191N	ADH6_ENST00000394899.2_Missense_Mutation_p.T191N|ADH6_ENST00000407820.2_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Missense_Mutation_p.T191N|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	191					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	AGAACCTGGAGTCACCTAAAC	0.453																																						ENST00000394897.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(571-573)aCt>aAt		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)						157	162	160					4																	100130081		2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100130081G>T	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"Alcohol dehydrogenases"	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.572C>A	4.37:g.100130081G>T	ENSP00000237653:p.Thr191Asn		Somatic				ADH6_ENST00000394899.2_Missense_Mutation_p.T191N|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.T191N|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000504257.1_5'UTR	p.T191N			WXS	Illumina GAIIx	Phase_I	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	6	654	-			191					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.572C>A	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	G	6.076	0.382311	0.11524	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000237653;ENST00000508558	T;T;T;T	0.22134	3.93;1.97;1.97;3.8	4.72	3.82	0.43975	GroES-like (1);	0.240627	0.42821	D	0.000656	T	0.38639	0.1048	M	0.89414	3.03	0.58432	D	0.999997	P;D;D	0.60160	0.68;0.987;0.984	B;P;P	0.52031	0.212;0.597;0.688	T	0.43294	-0.9400	10	0.87932	D	0	-20.6572	8.2008	0.31424	0.0859:0.0:0.6842:0.2299	.	191;191;191	E9PBI1;P28332;P28332-2	.;ADH6_HUMAN;.	N	191;191;191;127	ENSP00000378358:T191N;ENSP00000378359:T191N;ENSP00000237653:T191N;ENSP00000426187:T127N	ENSP00000237653:T191N	T	-	2	0	ADH6	100349104	0.075000	0.21258	0.236000	0.24074	0.014000	0.08584	2.299000	0.43611	2.321000	0.78463	0.563000	0.77884	ACT		0.453	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		22	259	1	0	1.28384e-07	1	1.48174e-07	22	259					T	100130081	G	T	100130081	3	4	48	1	0	0	0	0	1	0	0	0	312	1029	36	5	575	5	ADH6	4	100130081	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	206	100130081	91024195	1280	5748										
ADH1B	125	broad.mit.edu	37	chr4	100235062	100235062	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcacttcctgaatgggtttCttgtagtcttgagggttgat	12	6	2	3	rs373672745		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:100235062C>A	ENST00000305046.8	-	6	811	c.744G>T	c.(742-744)aaG>aaT	p.K248N	ADH1B_ENST00000394887.3_Missense_Mutation_p.K208N			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	248					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GAATGGGTTTCTTGTAGTCTT	0.463																																						ENST00000305046.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(742-744)aaG>aaT		alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)						208	209	208					4																	100235062		2203	4290	6493	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100235062C>A	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.744G>T	4.37:g.100235062C>A	ENSP00000306606:p.Lys248Asn		Somatic				ADH1B_ENST00000394887.3_Missense_Mutation_p.K208N	p.K248N			WXS	Illumina GAIIx	Phase_I	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	6	811	-			248					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.744G>T	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	C	9.262	1.043581	0.19748	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.28454	1.61;1.61	3.81	1.97	0.26223	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	1.064110	0.07265	N	0.868159	T	0.26557	0.0649	L	0.41632	1.29	0.31345	N	0.683163	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.13407	0.002;0.004;0.009	T	0.29549	-1.0008	10	0.52906	T	0.07	0.0859	7.4086	0.27006	0.3256:0.5041:0.1703:0.0	.	235;208;248	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	N	248;208;235	ENSP00000306606:K248N;ENSP00000378351:K208N	ENSP00000306606:K248N	K	-	3	2	ADH1B	100454085	0.134000	0.22483	0.866000	0.34008	0.862000	0.49288	-0.069000	0.11542	0.076000	0.16826	0.561000	0.74099	AAG		0.463	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		103	219	1	0	3.22635e-48	1	4.68053e-48	103	219					A	100235062	C	A	100235062	3	1	48	1	0	0	0	0	1	0	0	0	308	912	32	2	399	2	ADH1B	4	100235062	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	104981	100235062	90919214	1281	5749										
NHEDC1	150159	broad.mit.edu	37	chr4	103867923	103867923	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgaatggaacattcctaaTcgtaaaaccagccagtaaca	7	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:103867923T>C	ENST00000296422.7	-	5	547	c.406A>G	c.(406-408)Att>Gtt	p.I136V	SLC9B1_ENST00000394789.3_Missense_Mutation_p.I136V	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	136					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										ACATTCCTAATCGTAAAACCA	0.333																																						ENST00000296422.7																			0											c.(406-408)Att>Gtt		solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1							53	53	53					4																	103867923		2203	4298	6501	SO:0001583	missense	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103867923T>C	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"Solute carriers"	24244	protein-coding gene	gene with protein product		611527	"Na+/H+ exchanger domain containing 1", "solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.406A>G	4.37:g.103867923T>C	ENSP00000296422:p.Ile136Val		Somatic				SLC9B1_ENST00000394789.3_Missense_Mutation_p.I136V	p.I136V	NM_139173.3	NP_631912.2	WXS	Illumina GAIIx	Phase_I	Q4ZJI4	NHDC1_HUMAN			5	547	-			136					A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	c.406A>G	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.828169	0.32329	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000514340;ENST00000452285	T;T;T	0.14766	2.48;2.48;2.48	4.25	-4.1	0.03940	.	0.230683	0.33591	N	0.004741	T	0.09113	0.0225	L	0.38175	1.15	0.09310	N	1	B;B	0.22146	0.02;0.065	B;B	0.30716	0.119;0.03	T	0.23833	-1.0177	10	0.51188	T	0.08	-29.1104	6.1507	0.20310	0.0:0.3416:0.2554:0.4029	.	136;136	Q4ZJI4;Q4ZJI4-3	SL9B1_HUMAN;.	V	136;136;79;136	ENSP00000378269:I136V;ENSP00000296422:I136V;ENSP00000426056:I79V	ENSP00000296422:I136V	I	-	1	0	SLC9B1	104087372	0.035000	0.19736	0.001000	0.08648	0.539000	0.34962	-0.076000	0.11412	-0.345000	0.08325	-0.361000	0.07541	ATT		0.333	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		9	16	0	0	0	1	0	9	16					C	103867923	T	C	103867923	3	2	48	1	0	0	0	0	1	0	0	0	10409	1435	50	4	1273	4	NHEDC1	4	103867923	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	3632861	103867923	87286353	1282	5750										
BDH2	56898	broad.mit.edu	37	chr4	104003288	104003288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggctatttcttctgcagttgCgaatcttcccgtcttttgtc	8	11	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:104003288C>T	ENST00000296424.4	-	9	754	c.634G>A	c.(634-636)Gca>Aca	p.A212T		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	212					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		TCTGCAGTTGCGAATCTTCCC	0.463																																						ENST00000296424.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						c.(634-636)Gca>Aca		3-hydroxybutyrate dehydrogenase, type 2							139	122	128					4																	104003288		2203	4300	6503	SO:0001583	missense	56898				fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:104003288C>T	AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	32389	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 15C, member 1"		"dehydrogenase/reductase (SDR family) member 6"	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.634G>A	4.37:g.104003288C>T	ENSP00000296424:p.Ala212Thr		Somatic					p.A212T	NM_020139.3	NP_064524.3	WXS	Illumina GAIIx	Phase_I	Q9BUT1	BDH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)	9	754	-		Hepatocellular(203;0.217)	212					A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Missense_Mutation	SNP	ENST00000296424.4	37	c.634G>A	CCDS3663.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379806	0.82682	.	.	ENSG00000164039	ENST00000296424	T	0.23348	1.91	5.03	5.03	0.67393	NAD(P)-binding domain (1);	0.099000	0.64402	D	0.000001	T	0.36991	0.0987	M	0.64567	1.98	0.39819	D	0.972812	D	0.55172	0.97	P	0.48030	0.564	T	0.39921	-0.9590	10	0.87932	D	0	.	17.5072	0.87749	0.0:1.0:0.0:0.0	.	212	Q9BUT1	BDH2_HUMAN	T	212	ENSP00000296424:A212T	ENSP00000296424:A212T	A	-	1	0	BDH2	104222737	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	4.646000	0.61411	2.488000	0.83962	0.655000	0.94253	GCA		0.463	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157159.2	NM_020139		6	14	0	0	0	1	0	6	14					T	104003288	C	T	104003288	3	4	48	1	0	0	0	0	1	0	0	0	1391	768	27	1	111	1	BDH2	4	104003288	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	135365	104003288	87150988	1283	5751										
CENPE	1062	broad.mit.edu	37	chr4	104061119	104061119	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctcacactttgcatagataAgttttgggcctcaaattgct	7	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:104061119A>C	ENST00000265148.3	-	38	6120	c.6031T>G	c.(6031-6033)Tta>Gta	p.L2011V	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2011				AQNLSMQSVR -> PNYLCKCE (in Ref. 1; CAA78727). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|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)		TGCATAGATAAGTTTTGGGCC	0.328																																						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.(6031-6033)Tta>Gta		centromere protein E, 312kDa							129	117	121					4																	104061119		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.chr4:104061119A>C	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.6031T>G	4.37:g.104061119A>C	ENSP00000265148:p.Leu2011Val		Somatic				CENPE_ENST00000380026.3_Intron	p.L2011V	NM_001813.2	NP_001804.2	WXS	Illumina GAIIx	Phase_I	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	38	6120	-			2011	AQNLSMQSVR -> PNYLCKCE (in Ref. 1; CAA78727).				A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.6031T>G	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	1.007	-0.688991	0.03328	.	.	ENSG00000138778	ENST00000265148;ENST00000394771	T	0.70164	-0.46	5.29	1.47	0.22746	.	.	.	.	.	T	0.50973	0.1647	L	0.48642	1.525	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.32079	-0.9920	9	0.20519	T	0.43	.	2.4178	0.04440	0.6016:0.1607:0.0837:0.1539	.	2011	Q02224	CENPE_HUMAN	V	2011	ENSP00000265148:L2011V	ENSP00000265148:L2011V	L	-	1	2	CENPE	104280568	0.000000	0.05858	0.051000	0.19133	0.188000	0.23474	-0.101000	0.10973	0.300000	0.22699	-0.350000	0.07774	TTA		0.328	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	31	0	0	0	1	0	14	31					C	104061119	A	C	104061119	3	2	48	1	0	0	0	0	1	0	0	0	3232	69	3	4	2122	4	CENPE	4	104061119	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	57831	104061119	87093157	1284	5752										
TET2	54790	broad.mit.edu	37	chr4	106158562	106158562	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttatccagaattagcaaatTtatcttcagatatgggattt	6	5	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:106158562T>C	ENST00000540549.1	+	3	4269				TET2_ENST00000545826.1_Intron|TET2_ENST00000380013.4_Intron|TET2_ENST00000513237.1_Intron|TET2_ENST00000413648.2_Intron|TET2_ENST00000394764.1_Silent_p.L1155L|TET2_ENST00000305737.2_Silent_p.L1155L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2						5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATTAGCAAATTTATCTTCAGA	0.353			"Mis N, F"		MDS																																	ENST00000305737.2				Rec	yes		4	4q24	54790	"Mis N, F"	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(3463-3465)Tta>Cta		tet methylcytosine dioxygenase 2							47	52	51					4																	106158562		2161	4278	6439	SO:0001627	intron_variant	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106158562T>C	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3409+54T>C	4.37:g.106158562T>C			Somatic				TET2_ENST00000545826.1_Intron|TET2_ENST00000540549.1_Intron|TET2_ENST00000413648.2_Intron|TET2_ENST00000513237.1_Intron|TET2_ENST00000394764.1_Silent_p.L1155L|TET2_ENST00000380013.4_Intron	p.L1155L	NM_017628.4	NP_060098.3	WXS	Illumina GAIIx	Phase_I	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	3867	+		Myeloproliferative disorder(5;0.0393)	0					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	37	c.3463T>C	CCDS47120.1																																																																																				0.353	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		16	30	0	0	0	1	0	16	30					C	106158562	T	C	106158562	1	2	48	0	1	0	0	0	0	0	0	0	15785	1838	64	4		4	TET2	4	106158562	Intron	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2097443	106158562	84995714	1285	5753										
NPNT	255743	broad.mit.edu	37	chr4	106879674	106879674	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttgaaatatttgaaatagaAagaggagtcagtgcagacga	11	3	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:106879674A>G	ENST00000379987.2	+	9	1422	c.1206A>G	c.(1204-1206)gaA>gaG	p.E402E	NPNT_ENST00000453617.2_Silent_p.E419E|NPNT_ENST00000305572.8_Intron|NPNT_ENST00000514622.1_Intron|NPNT_ENST00000427316.2_Silent_p.E432E|NPNT_ENST00000506666.1_Intron	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	402					branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TTGAAATAGAAAGAGGAGTCA	0.373																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(1204-1206)gaA>gaG		nephronectin							110	105	107					4																	106879674		2203	4300	6503	SO:0001819	synonymous_variant	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106879674A>G		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.1206A>G	4.37:g.106879674A>G			Somatic				NPNT_ENST00000506666.1_Intron|NPNT_ENST00000305572.8_Intron|NPNT_ENST00000453617.2_Silent_p.E419E|NPNT_ENST00000427316.2_Silent_p.E432E|NPNT_ENST00000514622.1_Intron	p.E402E	NM_001033047.2	NP_001028219.1	WXS	Illumina GAIIx	Phase_I	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	9	1422	+		Hepatocellular(203;0.217)	402					A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Silent	SNP	ENST00000379987.2	37	c.1206A>G	CCDS34046.1	.	.	.	.	.	.	.	.	.	.	a	9.661	1.144088	0.21205	.	.	ENSG00000168743	ENST00000514837	.	.	.	5.27	4.1	0.47936	.	.	.	.	.	T	0.61924	0.2386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58451	-0.7634	4	.	.	.	.	10.7674	0.46301	0.9256:0.0:0.0744:0.0	.	.	.	.	E	379	.	.	K	+	1	0	NPNT	107099123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.283000	0.43470	0.857000	0.35407	0.529000	0.55759	AAG		0.373	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		8	20	0	0	0	1	0	8	20					G	106879674	A	G	106879674	2	3	48	1	0	0	0	0	0	0	0	1	10599	11	1	4		4	NPNT	4	106879674	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	721112	106879674	84274602	1286	5754										
AIMP1	9255	broad.mit.edu	37	chr4	107252909	107252909	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtttcccgtctggatcttCgaattggttgcatcataact	8	9	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:107252909C>T	ENST00000442366.1	+	5	524	c.472C>T	c.(472-474)Cga>Tga	p.R158*	AIMP1_ENST00000358008.3_Nonsense_Mutation_p.R158*|AIMP1_ENST00000394701.4_Nonsense_Mutation_p.R182*	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	158	Interaction with HSP90B1. {ECO:0000250}.|Required for endothelial cell migration.|tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						TCTGGATCTTCGAATTGGTTG	0.413																																						ENST00000394701.4																			0				breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						c.(544-546)Cga>Tga		aminoacyl tRNA synthetase complex-interacting multifunctional protein 1							176	183	181					4																	107252909		2203	4300	6503	SO:0001587	stop_gained	9255				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding	g.chr4:107252909C>T	U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022			10648	protein-coding gene	gene with protein product	"EMAP II", "ARS-interacting multifunctional protein 1"	603605	"small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)"	SCYE1		7929199, 7545917	Standard	NM_004757		Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000442366.1:c.472C>T	4.37:g.107252909C>T	ENSP00000405248:p.Arg158*		Somatic				AIMP1_ENST00000358008.3_Nonsense_Mutation_p.R158*|AIMP1_ENST00000442366.1_Nonsense_Mutation_p.R158*	p.R182*	NM_001142416.1	NP_001135888.1	WXS	Illumina GAIIx	Phase_I	Q12904	AIMP1_HUMAN			5	585	+			158			Interaction with HSP90B1 (By similarity).|Required for endothelial cell migration.|tRNA-binding.		B3KTR2|B4E1S7|Q6FG28|Q96CQ9	Nonsense_Mutation	SNP	ENST00000442366.1	37	c.544C>T	CCDS3674.1	.	.	.	.	.	.	.	.	.	.	C	41	8.823975	0.98968	.	.	ENSG00000164022	ENST00000442366;ENST00000358008;ENST00000394701	.	.	.	5.47	3.7	0.42460	.	0.053544	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.6873	14.5249	0.67881	0.2682:0.7318:0.0:0.0	.	.	.	.	X	158;158;182	.	.	R	+	1	2	AIMP1	107472358	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.471000	0.53107	0.645000	0.30675	-0.188000	0.12872	CGA		0.413	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253961.1	NM_004757		55	97	0	0	0	1	0	55	97					T	107252909	C	T	107252909	4	4	48	1	0	0	0	0	0	1	0	0	433	876	31	1	562	1	AIMP1	4	107252909	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	373235	107252909	83901367	1287	5755										
RPL34	6164	broad.mit.edu	37	chr4	109543322	109543322	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaaggttgggaaagcaccaAaatctgcatgtggtgtgtgc	14	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:109543322A>C	ENST00000394668.2	+	3	193	c.127A>C	c.(127-129)Aaa>Caa	p.K43Q	RPL34_ENST00000506397.1_Missense_Mutation_p.K43Q|RPL34-AS1_ENST00000507248.1_lincRNA|RPL34_ENST00000394667.3_Missense_Mutation_p.K43Q|RPL34_ENST00000502534.1_Missense_Mutation_p.K43Q|RPL34_ENST00000394665.1_Missense_Mutation_p.K43Q	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	43					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		GAAAGCACCAAAATCTGCATG	0.448																																						ENST00000394668.2																			0				kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(127-129)Aaa>Caa		ribosomal protein L34							68	69	69					4																	109543322		2203	4299	6502	SO:0001583	missense	6164				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr4:109543322A>C	AB007181	CCDS3680.1	4q25	2011-04-06			ENSG00000109475	ENSG00000109475		"L ribosomal proteins"	10340	protein-coding gene	gene with protein product						9582194, 7490091	Standard	XM_005263172		Approved	L34	uc003hyz.3	P49207	OTTHUMG00000131839	ENST00000394668.2:c.127A>C	4.37:g.109543322A>C	ENSP00000378163:p.Lys43Gln		Somatic				RPL34_ENST00000506397.1_Missense_Mutation_p.K43Q|RPL34_ENST00000394667.3_Missense_Mutation_p.K43Q|RPL34_ENST00000502534.1_Missense_Mutation_p.K43Q|RPL34_ENST00000394665.1_Missense_Mutation_p.K43Q	p.K43Q	NM_033625.2	NP_296374.1	WXS	Illumina GAIIx	Phase_I	P49207	RL34_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000286)	3	193	+		Hepatocellular(203;0.217)	43					Q6FG66|Q9BUZ2	Missense_Mutation	SNP	ENST00000394668.2	37	c.127A>C	CCDS3680.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.913275	0.72983	.	.	ENSG00000109475	ENST00000394667;ENST00000502534;ENST00000394665;ENST00000506397;ENST00000394668	.	.	.	5.22	5.22	0.72569	.	0.046506	0.85682	D	0.000000	T	0.73273	0.3566	M	0.80332	2.49	0.80722	D	1	B	0.26081	0.141	B	0.35655	0.207	T	0.75306	-0.3364	9	0.87932	D	0	.	15.077	0.72084	1.0:0.0:0.0:0.0	.	43	P49207	RL34_HUMAN	Q	43	.	ENSP00000378160:K43Q	K	+	1	0	RPL34	109762771	1.000000	0.71417	0.765000	0.31456	0.989000	0.77384	8.900000	0.92551	2.092000	0.63282	0.533000	0.62120	AAA		0.448	RPL34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363468.1	NM_033625, NM_000995		15	29	0	0	0	1	0	15	29					C	109543322	A	C	109543322	3	2	48	1	0	0	0	0	1	0	0	0	13598	15	1	4	133	4	RPL34	4	109543322	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2290413	109543322	81610954	1288	5756										
EGF	1950	broad.mit.edu	37	chr4	110864438	110864438	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taatatagagaaaaatgtttCtggaatggcaataaattgga	9	2	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:110864438C>A	ENST00000265171.5	+	3	801	c.356C>A	c.(355-357)tCt>tAt	p.S119Y	EGF_ENST00000509793.1_Missense_Mutation_p.S119Y|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000503392.1_Missense_Mutation_p.S119Y	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	119					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)	AAAAATGTTTCTGGAATGGCA	0.264																																						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.(355-357)tCt>tAt		epidermal growth factor	Sulindac(DB00605)						50	57	55					4																	110864438		2199	4293	6492	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.chr4:110864438C>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.356C>A	4.37:g.110864438C>A	ENSP00000265171:p.Ser119Tyr		Somatic				EGF_ENST00000509793.1_Missense_Mutation_p.S119Y|EGF_ENST00000503392.1_Missense_Mutation_p.S119Y|EGF_ENST00000502723.1_3'UTR	p.S119Y	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	801	+		Hepatocellular(203;0.0893)	119					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.356C>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872689	0.72180	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;T;T	0.34275	1.37;1.37;1.37	5.69	5.69	0.88448	Six-bladed beta-propeller, TolB-like (1);	0.180345	0.51477	D	0.000094	T	0.60366	0.2263	M	0.79123	2.44	0.46241	D	0.99894	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.987;0.994;0.987	T	0.63690	-0.6580	10	0.87932	D	0	.	13.0741	0.59077	0.0:0.9267:0.0:0.0733	.	119;119;119	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	Y	119	ENSP00000424316:S119Y;ENSP00000265171:S119Y;ENSP00000421384:S119Y	ENSP00000265171:S119Y	S	+	2	0	EGF	111083887	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.511000	0.53400	2.697000	0.92050	0.650000	0.86243	TCT		0.264	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			17	39	1	0	3.99206e-14	1	5.17458e-14	17	39					A	110864438	C	A	110864438	3	1	48	1	0	0	0	0	1	0	0	0	4964	913	32	2	366	2	EGF	4	110864438	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1321116	110864438	80289838	1289	5757										
EGF	1950	broad.mit.edu	37	chr4	110865047	110865047	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagcctttatagagcagatCtcgatggtgtgggagtgaag	15	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:110865047C>A	ENST00000265171.5	+	4	1004	c.559C>A	c.(559-561)Ctc>Atc	p.L187I	EGF_ENST00000509793.1_Missense_Mutation_p.L187I|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000503392.1_Missense_Mutation_p.L187I	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	187					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)	TAGAGCAGATCTCGATGGTGT	0.423																																						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.(559-561)Ctc>Atc		epidermal growth factor	Sulindac(DB00605)						162	155	157					4																	110865047		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.chr4:110865047C>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.559C>A	4.37:g.110865047C>A	ENSP00000265171:p.Leu187Ile		Somatic				EGF_ENST00000509793.1_Missense_Mutation_p.L187I|EGF_ENST00000503392.1_Missense_Mutation_p.L187I|EGF_ENST00000502723.1_3'UTR	p.L187I	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)	4	1004	+		Hepatocellular(203;0.0893)	187					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.559C>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839670	0.32513	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.92048	-2.96;-2.96;-2.96	5.71	4.87	0.63330	Six-bladed beta-propeller, TolB-like (1);	0.175355	0.51477	D	0.000092	D	0.92084	0.7491	M	0.83603	2.65	0.41536	D	0.988486	P;P;B	0.37914	0.477;0.611;0.339	B;B;B	0.36378	0.111;0.223;0.111	D	0.92204	0.5770	10	0.59425	D	0.04	.	14.5486	0.68050	0.0:0.9302:0.0:0.0698	.	187;187;187	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	I	187	ENSP00000424316:L187I;ENSP00000265171:L187I;ENSP00000421384:L187I	ENSP00000265171:L187I	L	+	1	0	EGF	111084496	0.812000	0.29077	0.036000	0.18154	0.272000	0.26649	1.644000	0.37228	1.429000	0.47314	0.655000	0.94253	CTC		0.423	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			10	34	1	0	9.70103e-10	1	1.17791e-09	10	34					A	110865047	C	A	110865047	3	1	48	1	0	0	0	0	1	0	0	0	4964	913	32	2	573	2	EGF	4	110865047	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	609	110865047	80289229	1290	5758										
TIFA	92610	broad.mit.edu	37	chr4	113199456	113199456	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acttcgctggaagggagtttCtctctgttaaaacttattga	9	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:113199456C>A	ENST00000361717.3	-	2	398	c.117G>T	c.(115-117)gaG>gaT	p.E39D	TIFA_ENST00000500655.2_Missense_Mutation_p.E39D	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	39					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)		AAGGGAGTTTCTCTCTGTTAA	0.428																																						ENST00000361717.2																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(115-117)gaG>gaT		TRAF-interacting protein with forkhead-associated domain							86	94	91					4																	113199456		2203	4298	6501	SO:0001583	missense	92610						protein binding	g.chr4:113199456C>A	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.117G>T	4.37:g.113199456C>A	ENSP00000354911:p.Glu39Asp		Somatic				TIFA_ENST00000500655.2_Missense_Mutation_p.E39D	p.E39D	NM_052864.2	NP_443096.1	WXS	Illumina GAIIx	Phase_I	Q96CG3	TIFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00172)	2	398	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	39						Missense_Mutation	SNP	ENST00000361717.3	37	c.117G>T	CCDS34051.1	.	.	.	.	.	.	.	.	.	.	C	9.678	1.148546	0.21288	.	.	ENSG00000145365	ENST00000361717;ENST00000438746;ENST00000500655	T;T	0.48522	0.81;0.81	5.92	-0.819	0.10829	.	0.482216	0.25631	N	0.029354	T	0.27731	0.0682	L	0.38175	1.15	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.06643	-1.0815	10	0.32370	T	0.25	-15.3562	1.7436	0.02958	0.2092:0.3896:0.1031:0.298	.	39	Q96CG3	TIFA_HUMAN	D	39	ENSP00000354911:E39D;ENSP00000424231:E39D	ENSP00000354911:E39D	E	-	3	2	TIFA	113418905	0.397000	0.25270	0.749000	0.31150	0.477000	0.33069	-0.336000	0.07863	0.088000	0.17205	-0.156000	0.13503	GAG		0.428	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	NM_052864		38	62	1	0	4.00102e-26	1	5.65269e-26	38	62					A	113199456	C	A	113199456	3	1	48	1	0	0	0	0	1	0	0	0	15909	912	32	2	441	2	TIFA	4	113199456	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2334409	113199456	77954820	1291	5759										
ALPK1	80216	broad.mit.edu	37	chr4	113352752	113352752	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cataataccccaggcattttCttggcccctggtgcagggct	10	13	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:113352752C>A	ENST00000458497.1	+	11	2328	c.2049C>A	c.(2047-2049)ttC>ttA	p.F683L	ALPK1_ENST00000177648.9_Missense_Mutation_p.F683L|ALPK1_ENST00000504176.2_Missense_Mutation_p.F605L	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	683							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAGGCATTTTCTTGGCCCCTG	0.498																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(2047-2049)ttC>ttA		alpha-kinase 1							55	58	57					4																	113352752		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113352752C>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2049C>A	4.37:g.113352752C>A	ENSP00000398048:p.Phe683Leu		Somatic				ALPK1_ENST00000177648.9_Missense_Mutation_p.F683L|ALPK1_ENST00000504176.2_Missense_Mutation_p.F605L	p.F683L	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	WXS	Illumina GAIIx	Phase_I	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	2328	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	683					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.2049C>A	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	C	3.884	-0.025346	0.07589	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02177	4.48;4.48;4.41	5.48	-7.23	0.01480	.	2.457090	0.00960	N	0.003095	T	0.01454	0.0047	N	0.25144	0.715	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.46442	-0.9191	10	0.09338	T	0.73	3.9318	3.7999	0.08754	0.0931:0.1687:0.422:0.3162	.	605;605;683	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	L	683;683;605	ENSP00000398048:F683L;ENSP00000177648:F683L;ENSP00000426044:F605L	ENSP00000177648:F683L	F	+	3	2	ALPK1	113572201	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.257000	0.01180	-1.777000	0.01283	-0.885000	0.02943	TTC		0.498	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		27	37	1	0	6.32553e-13	1	8.04352e-13	27	37					A	113352752	C	A	113352752	3	1	48	1	0	0	0	0	1	0	0	0	544	912	32	2	2083	2	ALPK1	4	113352752	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	153296	113352752	77801524	1292	5760										
NEUROG2	63973	broad.mit.edu	37	chr4	113436535	113436535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcgtcggcgctggatgacaGcggggtcagggccgccaagg	18	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:113436535G>A	ENST00000313341.3	-	2	423	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L	RP11-402J6.1_ENST00000506057.1_RNA|RP11-402J6.1_ENST00000504009.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	33					axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|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)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		CTGGATGACAGCGGGGTCAGG	0.701																																						ENST00000313341.3																			0				central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12						c.(97-99)Ctg>Ttg		neurogenin 2							23	24	23					4																	113436535		2125	4132	6257	SO:0001819	synonymous_variant	63973				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	g.chr4:113436535G>A	AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"Basic helix-loop-helix proteins"	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.97C>T	4.37:g.113436535G>A			Somatic					p.L33L	NM_024019.3	NP_076924.1	WXS	Illumina GAIIx	Phase_I	Q9H2A3	NGN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00168)	2	423	-		Ovarian(17;0.156)	33					Q8N416	Silent	SNP	ENST00000313341.3	37	c.97C>T	CCDS3698.1																																																																																				0.701	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019		9	26	0	0	0	1	0	9	26					A	113436535	G	A	113436535	2	1	48	1	0	0	0	0	0	0	0	1	10362	962	34	3		3	NEUROG2	4	113436535	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	83783	113436535	77717741	1293	5761										
C4orf21	55345	broad.mit.edu	37	chr4	113540667	113540667	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcttgtaagtcacaatgttCtcagggtctgccagtatatt	8	8	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:113540667C>T	ENST00000505019.1	-	6	656	c.531G>A	c.(529-531)gaG>gaA	p.E177E	C4orf21_ENST00000309071.5_Silent_p.E177E|C4orf21_ENST00000445203.2_Silent_p.E146E	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		177						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			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)		TCACAATGTTCTCAGGGTCTG	0.408																																						ENST00000505019.1																			0				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.(529-531)gaG>gaA		chromosome 4 open reading frame 21							55	58	57					4																	113540667		2203	4300	6503	SO:0001819	synonymous_variant	55345							g.chr4:113540667C>T																												ENST00000505019.1:c.531G>A	4.37:g.113540667C>T			Somatic				C4orf21_ENST00000445203.2_Silent_p.E146E|C4orf21_ENST00000309071.5_Silent_p.E177E	p.E177E	NM_018392.4	NP_060862.3	WXS	Illumina GAIIx	Phase_I	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	656	-		Ovarian(17;0.156)	177					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	ENST00000505019.1	37	c.531G>A																																																																																					0.408	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			18	33	0	0	0	1	0	18	33					T	113540667	C	T	113540667	2	4	48	1	0	0	0	0	0	0	0	1	2256	912	32	3		3	C4orf21	4	113540667	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	104132	113540667	77613609	1294	5762										
ANK2	287	broad.mit.edu	37	chr4	114095638	114095638	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggacaaagttgtggaatatCtgaaggggggcatagacatc	14	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114095638C>A	ENST00000357077.4	+	2	204	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	ANK2_ENST00000394537.3_Missense_Mutation_p.L51M|ANK2_ENST00000506722.1_Missense_Mutation_p.L30M|ANK2_ENST00000264366.6_Missense_Mutation_p.L51M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	51					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)		TGTGGAATATCTGAAGGGGGG	0.463																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(151-153)Ctg>Atg		ankyrin 2, neuronal							67	56	60					4																	114095638		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114095638C>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.151C>A	4.37:g.114095638C>A	ENSP00000349588:p.Leu51Met		Somatic				ANK2_ENST00000394537.3_Missense_Mutation_p.L51M|ANK2_ENST00000264366.6_Missense_Mutation_p.L51M|ANK2_ENST00000506722.1_Missense_Mutation_p.L30M	p.L51M	NM_001148.4	NP_001139.3	WXS	Illumina GAIIx	Phase_I	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	2	204	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	51					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.151C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901769	0.72754	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000508613;ENST00000511380;ENST00000343056	T;T;T;T;T;T;T;T;T	0.73575	1.55;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.76;-0.66	5.54	3.79	0.43588	Ankyrin repeat-containing domain (2);	0.000000	0.41194	D	0.000940	D	0.83358	0.5237	M	0.68952	2.095	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	0.91635	0.999;0.984;0.996;0.999;0.997	D	0.84781	0.0773	10	0.72032	D	0.01	.	12.1073	0.53820	0.0:0.8562:0.0:0.1438	.	51;51;51;30;30	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	M	30;30;30;66;51;51;51;66;68;30	ENSP00000423799:L30M;ENSP00000421011:L30M;ENSP00000421067:L30M;ENSP00000424722:L66M;ENSP00000378044:L51M;ENSP00000349588:L51M;ENSP00000264366:L51M;ENSP00000422900:L66M;ENSP00000425775:L68M	ENSP00000264366:L51M	L	+	1	2	ANK2	114315087	0.992000	0.36948	0.998000	0.56505	0.992000	0.81027	2.985000	0.49362	1.326000	0.45319	0.655000	0.94253	CTG		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		11	22	1	0	6.40141e-05	1	6.95424e-05	11	22					A	114095638	C	A	114095638	3	1	48	1	0	0	0	0	1	0	0	0	621	912	32	2	182	2	ANK2	4	114095638	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	554971	114095638	77058638	1295	5763										
ANK2	287	broad.mit.edu	37	chr4	114275856	114275856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacaagagaaaggtaaagttCgggtagaaaaagaaaagggg	14	3	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114275856C>T	ENST00000357077.4	+	38	6135	c.6082C>T	c.(6082-6084)Cgg>Tgg	p.R2028W	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R1995W	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2028					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R2028W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGTAAAGTTCGGGTAGAAAA	0.463																																						ENST00000357077.4																			1	Substitution - Missense(1)	p.R2028W(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(6082-6084)Cgg>Tgg		ankyrin 2, neuronal							40	47	45					4																	114275856		2201	4298	6499	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114275856C>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.6082C>T	4.37:g.114275856C>T	ENSP00000349588:p.Arg2028Trp		Somatic				ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R1995W|ANK2_ENST00000506722.1_Intron	p.R2028W	NM_001148.4	NP_001139.3	WXS	Illumina GAIIx	Phase_I	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	6135	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1995					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.6082C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397761	0.42512	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.68765	-0.34;-0.35	5.53	4.67	0.58626	.	0.129029	0.35013	N	0.003515	T	0.72120	0.3421	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.56700	0.642;0.804	T	0.72154	-0.4376	9	.	.	.	.	11.0813	0.48062	0.129:0.8023:0.0:0.0687	.	1995;2028	Q01484;Q01484-4	ANK2_HUMAN;.	W	2028;1995	ENSP00000349588:R2028W;ENSP00000264366:R1995W	.	R	+	1	2	ANK2	114495305	0.053000	0.20554	0.073000	0.20177	0.268000	0.26511	1.651000	0.37302	1.407000	0.46875	0.563000	0.77884	CGG		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		49	74	0	0	0	1	0	49	74					T	114275856	C	T	114275856	3	4	48	1	0	0	0	0	1	0	0	0	621	875	31	1	6297	1	ANK2	4	114275856	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	180218	114275856	76878420	1296	5764										
ANK2	287	broad.mit.edu	37	chr4	114275979	114275979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagaatccaaaagaggagttCgtgtttcctccataggagtt	10	8	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114275979C>T	ENST00000357077.4	+	38	6258	c.6205C>T	c.(6205-6207)Cgt>Tgt	p.R2069C	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R2036C	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2069					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)		AAGAGGAGTTCGTGTTTCCTC	0.468																																						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.(6205-6207)Cgt>Tgt		ankyrin 2, neuronal							82	90	87					4																	114275979		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114275979C>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.6205C>T	4.37:g.114275979C>T	ENSP00000349588:p.Arg2069Cys		Somatic				ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R2036C|ANK2_ENST00000506722.1_Intron	p.R2069C	NM_001148.4	NP_001139.3	WXS	Illumina GAIIx	Phase_I	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	6258	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2036					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.6205C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	5.278	0.236669	0.10023	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.68765	-0.34;-0.35	5.32	4.45	0.53987	.	0.711627	0.11929	N	0.515913	T	0.72882	0.3516	L	0.60455	1.87	0.09310	N	0.999994	D;D	0.71674	0.996;0.998	P;P	0.53861	0.65;0.736	T	0.62364	-0.6870	9	.	.	.	.	12.3387	0.55081	0.3164:0.6836:0.0:0.0	.	2036;2069	Q01484;Q01484-4	ANK2_HUMAN;.	C	2069;2036	ENSP00000349588:R2069C;ENSP00000264366:R2036C	.	R	+	1	0	ANK2	114495428	0.946000	0.32159	0.016000	0.15963	0.059000	0.15707	3.483000	0.53194	1.296000	0.44742	0.563000	0.77884	CGT		0.468	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		9	169	0	0	0	1	0	9	169					T	114275979	C	T	114275979	3	4	48	1	0	0	0	0	1	0	0	0	621	884	31	1	6420	1	ANK2	4	114275979	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	123	114275979	76878297	1297	5765										
CAMK2D	817	broad.mit.edu	37	chr4	114680550	114680550	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taggaattttcatacatcttCtcaccactgagaatgccccc	5	13	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114680550C>T	ENST00000342666.5	-	2	85	c.86G>A	c.(85-87)aGa>aAa	p.R29K	CAMK2D_ENST00000515496.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000454265.2_Missense_Mutation_p.R29K|CAMK2D_ENST00000418639.2_Missense_Mutation_p.R29K|CAMK2D_ENST00000511664.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000296402.5_Missense_Mutation_p.R29K|CAMK2D_ENST00000394524.3_Missense_Mutation_p.R29K|CAMK2D_ENST00000509907.1_5'UTR|CAMK2D_ENST00000508738.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000394526.2_Missense_Mutation_p.R29K|CAMK2D_ENST00000514328.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000429180.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000505990.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000394522.3_Missense_Mutation_p.R29K|CAMK2D_ENST00000379773.2_Missense_Mutation_p.R29K			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	29	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)		CATACATCTTCTCACCACTGA	0.328																																						ENST00000454265.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13						c.(85-87)aGa>aAa		calcium/calmodulin-dependent protein kinase II delta							102	102	102					4																	114680550		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.chr4:114680550C>T	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.86G>A	4.37:g.114680550C>T	ENSP00000339740:p.Arg29Lys		Somatic				CAMK2D_ENST00000394526.2_Missense_Mutation_p.R29K|CAMK2D_ENST00000509907.1_5'UTR|CAMK2D_ENST00000511664.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000514328.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000296402.5_Missense_Mutation_p.R29K|CAMK2D_ENST00000429180.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000394524.3_Missense_Mutation_p.R29K|CAMK2D_ENST00000515496.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000342666.5_Missense_Mutation_p.R29K|CAMK2D_ENST00000394522.3_Missense_Mutation_p.R29K|CAMK2D_ENST00000505990.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000418639.2_Missense_Mutation_p.R29K|CAMK2D_ENST00000379773.2_Missense_Mutation_p.R29K|CAMK2D_ENST00000508738.1_Missense_Mutation_p.R29K	p.R29K			WXS	Illumina GAIIx	Phase_I	Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	2	944	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	29			Protein kinase.		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	c.86G>A	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688599	0.48097	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.98	5.15	0.70609	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.141177	0.45606	D	0.000346	T	0.37046	0.0989	L	0.31157	0.91	0.80722	D	1	B;D;D;B;D	0.57571	0.232;0.98;0.98;0.011;0.971	B;D;D;B;D	0.79108	0.161;0.986;0.986;0.033;0.992	T	0.07712	-1.0758	10	0.20046	T	0.44	.	14.8013	0.69919	0.0:0.9305:0.0:0.0695	.	29;29;29;29;29	E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557	.;.;.;.;KCC2D_HUMAN	K	29	ENSP00000378032:R29K;ENSP00000415248:R29K;ENSP00000415707:R29K;ENSP00000406131:R29K;ENSP00000378034:R29K;ENSP00000296402:R29K;ENSP00000425824:R29K;ENSP00000339740:R29K;ENSP00000423482:R29K;ENSP00000423677:R29K;ENSP00000378030:R29K;ENSP00000424245:R29K;ENSP00000369098:R29K;ENSP00000422566:R29K	ENSP00000296402:R29K	R	-	2	0	CAMK2D	114899999	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.381000	0.79718	1.553000	0.49476	-0.218000	0.12543	AGA		0.328	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			20	47	0	0	0	1	0	20	47					T	114680550	C	T	114680550	3	4	48	1	0	0	0	0	1	0	0	0	2603	913	32	3	1576	3	CAMK2D	4	114680550	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	404571	114680550	76473726	1298	5766										
ARSJ	79642	broad.mit.edu	37	chr4	114824392	114824392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gataatggatcggtagtgttCgaaatacctgccaggagctt	12	7	0	0	rs200459738		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114824392C>T	ENST00000315366.7	-	2	1704	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	ARSJ_ENST00000541197.1_Missense_Mutation_p.E280K	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	280					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.E280K(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CGGTAGTGTTCGAAATACCTG	0.418													C|||	1	0.000199681	0	0	5008	,	,		22078	0.001		0	False		,,,				2504	0					ENST00000315366.7																			1	Substitution - Missense(1)	p.E280K(1)	large_intestine(1)	endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21						c.(838-840)Gaa>Aaa		arylsulfatase family, member J							119	110	112					4																	114824392		1962	4167	6129	SO:0001583	missense	79642					extracellular region	arylsulfatase activity|metal ion binding	g.chr4:114824392C>T		CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"Arylsulfatase family"	26286	protein-coding gene	gene with protein product		610010	"arylsulfatase J"			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.838G>A	4.37:g.114824392C>T	ENSP00000320219:p.Glu280Lys		Somatic				ARSJ_ENST00000541197.1_Missense_Mutation_p.E280K	p.E280K	NM_024590.3	NP_078866.3	WXS	Illumina GAIIx	Phase_I	Q5FYB0	ARSJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	2	1704	-		Ovarian(17;0.0035)|Hepatocellular(203;0.217)	280					A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	ENST00000315366.7	37	c.838G>A	CCDS43264.1	.	.	.	.	.	.	.	.	.	.	C	5.021	0.189605	0.09547	.	.	ENSG00000180801	ENST00000315366;ENST00000541197	D;D	0.96427	-4.01;-4.01	5.64	3.92	0.45320	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.134780	0.48286	N	0.000188	D	0.90577	0.7046	N	0.12961	0.28	0.37040	D	0.897114	P;P	0.38617	0.64;0.64	B;B	0.40199	0.265;0.322	D	0.87832	0.2645	10	0.10902	T	0.67	.	11.9815	0.53123	0.0:0.8604:0.0:0.1396	.	280;280	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	K	280	ENSP00000320219:E280K;ENSP00000438836:E280K	ENSP00000320219:E280K	E	-	1	0	ARSJ	115043841	0.998000	0.40836	0.501000	0.27601	0.948000	0.59901	2.351000	0.44071	0.745000	0.32763	0.655000	0.94253	GAA		0.418	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		29	36	0	0	0	1	0	29	36					T	114824392	C	T	114824392	3	4	48	1	0	0	0	0	1	0	0	0	995	893	31	1	965	1	ARSJ	4	114824392	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	143842	114824392	76329884	1299	5767										
UGT8	7368	broad.mit.edu	37	chr4	115544196	115544196	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagaggccaccatacagtgTtcctcctctctgaaggcaga	10	12	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:115544196T>C	ENST00000310836.6	+	2	682	c.160T>C	c.(160-162)Ttc>Ctc	p.F54L	UGT8_ENST00000394511.3_Missense_Mutation_p.F54L	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	54					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CCATACAGTGTTCCTCCTCTC	0.488																																						ENST00000310836.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(160-162)Ttc>Ctc		UDP glycosyltransferase 8							106	95	99					4																	115544196		2203	4300	6503	SO:0001583	missense	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115544196T>C	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"UDP glucuronosyltransferases"	12555	protein-coding gene	gene with protein product	"2-hydroxyacylsphingosine 1-beta-galactosyltransferase"	601291	"UDP-galactose ceramide galactosyltransferase"	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.160T>C	4.37:g.115544196T>C	ENSP00000311648:p.Phe54Leu		Somatic				UGT8_ENST00000394511.3_Missense_Mutation_p.F54L	p.F54L	NM_001128174.1	NP_001121646.1	WXS	Illumina GAIIx	Phase_I	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	2	682	+		Ovarian(17;0.156)	54					B3KXU7|O00196	Missense_Mutation	SNP	ENST00000310836.6	37	c.160T>C	CCDS3705.1	.	.	.	.	.	.	.	.	.	.	T	8.453	0.853540	0.17106	.	.	ENSG00000174607	ENST00000310836;ENST00000507710;ENST00000394511	T;T;T	0.07021	3.23;3.23;3.23	5.3	4.07	0.47477	.	0.096393	0.64402	N	0.000001	T	0.05593	0.0147	N	0.12746	0.255	0.46564	D	0.999103	B	0.02656	0.0	B	0.04013	0.001	T	0.31392	-0.9945	10	0.52906	T	0.07	.	11.5958	0.50972	0.0:0.0715:0.0:0.9284	.	54	Q16880	CGT_HUMAN	L	54	ENSP00000311648:F54L;ENSP00000421446:F54L;ENSP00000378019:F54L	ENSP00000311648:F54L	F	+	1	0	UGT8	115763645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.987000	0.63857	0.914000	0.36822	0.528000	0.53228	TTC		0.488	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		19	54	0	0	0	1	0	19	54					C	115544196	T	C	115544196	3	2	48	1	0	0	0	0	1	0	0	0	16980	1725	60	4	162	4	UGT8	4	115544196	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	719804	115544196	75610080	1300	5768										
NDST4	64579	broad.mit.edu	37	chr4	115792003	115792003	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggaggcagagtttgcaatTtcaggttggtccagctctgc	13	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:115792003T>G	ENST00000264363.2	-	7	2318	c.1640A>C	c.(1639-1641)aAa>aCa	p.K547T		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	547	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)		AGTTTGCAATTTCAGGTTGGT	0.443																																						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.(1639-1641)aAa>aCa		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							95	104	101					4																	115792003		2203	4299	6502	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115792003T>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.1640A>C	4.37:g.115792003T>G	ENSP00000264363:p.Lys547Thr		Somatic					p.K547T	NM_022569.1	NP_072091.1	WXS	Illumina GAIIx	Phase_I	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	7	2318	-		Ovarian(17;0.156)	547			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1640A>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.241633	0.39598	.	.	ENSG00000138653	ENST00000264363	T	0.40225	1.04	5.1	0.453	0.16639	.	0.769510	0.12392	N	0.472941	T	0.48804	0.1520	M	0.77103	2.36	0.09310	N	0.999999	B	0.22851	0.076	B	0.34452	0.183	T	0.53337	-0.8453	10	0.87932	D	0	.	11.5025	0.50446	0.0:0.5034:0.0:0.4966	.	547	Q9H3R1	NDST4_HUMAN	T	547	ENSP00000264363:K547T	ENSP00000264363:K547T	K	-	2	0	NDST4	116011452	0.287000	0.24315	0.049000	0.19019	0.982000	0.71751	0.606000	0.24194	-0.299000	0.08909	0.459000	0.35465	AAA		0.443	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		21	32	0	0	0	1	0	21	32					G	115792003	T	G	115792003	3	3	48	1	0	0	0	0	1	0	0	0	10267	1841	64	4	1010	4	NDST4	4	115792003	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	247807	115792003	75362273	1301	5769										
SYNPO2	171024	broad.mit.edu	37	chr4	119952573	119952573	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctttgctaaaaggcagtcGagaatggagaagtatgtggt	13	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:119952573G>A	ENST00000429713.2	+	4	2825	c.2643G>A	c.(2641-2643)tcG>tcA	p.S881S	SYNPO2_ENST00000434046.2_Silent_p.S881S|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Silent_p.S881S	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	881						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						AAAGGCAGTCGAGAATGGAGA	0.552																																						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.(2641-2643)tcG>tcA		synaptopodin 2							127	122	124					4																	119952573		2203	4300	6503	SO:0001819	synonymous_variant	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119952573G>A	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2643G>A	4.37:g.119952573G>A			Somatic				SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Silent_p.S881S|SYNPO2_ENST00000434046.2_Silent_p.S881S	p.S881S	NM_133477.2	NP_597734.2	WXS	Illumina GAIIx	Phase_I	Q9UMS6	SYNP2_HUMAN			4	2839	+			881					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000429713.2	37	c.2643G>A	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	G	4.612	0.113661	0.08831	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.76	-7.66	0.01277	.	.	.	.	.	T	0.34424	0.0897	.	.	.	0.50632	D	0.999886	.	.	.	.	.	.	T	0.40572	-0.9556	4	.	.	.	-12.6685	1.6633	0.02796	0.3214:0.3289:0.149:0.2007	.	.	.	.	K	833	.	.	E	+	1	0	SYNPO2	120172021	0.000000	0.05858	0.497000	0.27552	0.930000	0.56654	-2.067000	0.01383	-1.288000	0.02378	-0.792000	0.03331	GAG		0.552	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			39	78	0	0	0	1	0	39	78					A	119952573	G	A	119952573	2	1	48	1	0	0	0	0	0	0	0	1	15472	1045	37	1		1	SYNPO2	4	119952573	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4160570	119952573	71201703	1302	5770										
SYNPO2	171024	broad.mit.edu	37	chr4	119978690	119978690	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagaaagcaaacaagagaccAactccttgggaagcagcagc	11	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:119978690A>C	ENST00000307142.4	+	5	3583	c.3387A>C	c.(3385-3387)ccA>ccC	p.P1129P	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACAAGAGACCAACTCCTTGGG	0.473																																						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.(3385-3387)ccA>ccC		synaptopodin 2							111	102	105					4																	119978690		2203	4300	6503	SO:0001819	synonymous_variant	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119978690A>C	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.3387A>C	4.37:g.119978690A>C			Somatic				SYNPO2_ENST00000448416.2_3'UTR	p.P1129P	NM_133477.2	NP_597734.2	WXS	Illumina GAIIx	Phase_I	Q9UMS6	SYNP2_HUMAN			5	3583	+			780					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000307142.4	37	c.3387A>C	CCDS34054.1	.	.	.	.	.	.	.	.	.	.	A	7.374	0.627481	0.14257	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.7	-11.4	0.00090	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.29770	N	0.834828	.	.	.	.	.	.	T	0.04961	-1.0915	4	.	.	.	-1.1053	2.8259	0.05485	0.2489:0.2917:0.3157:0.1437	.	.	.	.	H	1023	.	.	N	+	1	0	SYNPO2	120198138	0.012000	0.17670	0.040000	0.18447	0.806000	0.45545	-0.836000	0.04382	-2.197000	0.00750	-0.316000	0.08728	AAC		0.473	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1			22	59	0	0	0	1	0	22	59					C	119978690	A	C	119978690	2	2	48	1	0	0	0	0	0	0	0	1	15472	117	5	4		4	SYNPO2	4	119978690	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	26117	119978690	71175586	1303	5771										
PRDM5	11107	broad.mit.edu	37	chr4	121675763	121675763	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catttttactgaatccttttTcacagtaaggacattgatag	6	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:121675763T>C	ENST00000264808.3	-	14	1808	c.1568A>G	c.(1567-1569)gAa>gGa	p.E523G	PRDM5_ENST00000515109.1_Intron|PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000428209.2_Missense_Mutation_p.E492G	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	523					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						GAATCCTTTTTCACAGTAAGG	0.378																																						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.(1567-1569)gAa>gGa		PR domain containing 5							111	99	104					4																	121675763		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.chr4:121675763T>C	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.1568A>G	4.37:g.121675763T>C	ENSP00000264808:p.Glu523Gly		Somatic				PRDM5_ENST00000428209.2_Missense_Mutation_p.E492G|PRDM5_ENST00000515109.1_Intron|PRDM5_ENST00000506065.1_5'UTR	p.E523G	NM_018699.2	NP_061169.2	WXS	Illumina GAIIx	Phase_I	Q9NQX1	PRDM5_HUMAN			14	1808	-			523					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.1568A>G	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	T	6.005	0.369362	0.11352	.	.	ENSG00000138738	ENST00000264808;ENST00000428209	T;T	0.08008	3.14;4.27	5.84	4.66	0.58398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.056999	0.64402	D	0.000003	T	0.02193	0.0068	N	0.00637	-1.305	0.80722	D	1	B;B	0.27679	0.185;0.001	B;B	0.27380	0.079;0.002	T	0.40059	-0.9583	10	0.02654	T	1	-15.4247	10.9215	0.47167	0.0:0.0744:0.0:0.9255	.	492;523	Q9NQX1-2;Q9NQX1	.;PRDM5_HUMAN	G	523;492	ENSP00000264808:E523G;ENSP00000404832:E492G	ENSP00000264808:E523G	E	-	2	0	PRDM5	121895213	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.933000	0.75874	1.041000	0.40125	-0.353000	0.07706	GAA		0.378	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			16	19	0	0	0	1	0	16	19					C	121675763	T	C	121675763	3	2	48	1	0	0	0	0	1	0	0	0	12472	1783	62	4	336	4	PRDM5	4	121675763	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1697073	121675763	69478513	1304	5772										
PRDM5	11107	broad.mit.edu	37	chr4	121720877	121720877	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ataaatttcttcatacattcTtgacaatcaaatatctcatg	2	8	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:121720877T>G	ENST00000264808.3	-	9	1209	c.969A>C	c.(967-969)caA>caC	p.Q323H	PRDM5_ENST00000515109.1_Missense_Mutation_p.Q292H|PRDM5_ENST00000428209.2_Missense_Mutation_p.Q292H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	323					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						TCATACATTCTTGACAATCAA	0.299																																						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.(967-969)caA>caC		PR domain containing 5							53	54	54					4																	121720877		2201	4295	6496	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.chr4:121720877T>G	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.969A>C	4.37:g.121720877T>G	ENSP00000264808:p.Gln323His		Somatic				PRDM5_ENST00000428209.2_Missense_Mutation_p.Q292H|PRDM5_ENST00000515109.1_Missense_Mutation_p.Q292H	p.Q323H	NM_018699.2	NP_061169.2	WXS	Illumina GAIIx	Phase_I	Q9NQX1	PRDM5_HUMAN			9	1209	-			323					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.969A>C	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.263977	0.39995	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.36699	1.24;3.77;3.77	5.77	0.691	0.18045	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.108529	0.64402	D	0.000006	T	0.22820	0.0551	N	0.25245	0.725	0.80722	D	1	B;B;B	0.12630	0.006;0.003;0.006	B;B;B	0.14578	0.005;0.011;0.005	T	0.06534	-1.0821	10	0.51188	T	0.08	-30.0777	10.5867	0.45286	0.0:0.4439:0.0:0.5561	.	292;292;323	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	H	323;292;292	ENSP00000264808:Q323H;ENSP00000422309:Q292H;ENSP00000404832:Q292H	ENSP00000264808:Q323H	Q	-	3	2	PRDM5	121940327	0.997000	0.39634	1.000000	0.80357	0.950000	0.60333	0.359000	0.20233	0.196000	0.20367	0.533000	0.62120	CAA		0.299	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			10	19	0	0	0	1	0	10	19					G	121720877	T	G	121720877	3	3	48	1	0	0	0	0	1	0	0	0	12472	1606	56	4	955	4	PRDM5	4	121720877	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	45114	121720877	69433399	1305	5773										
PRDM5	11107	broad.mit.edu	37	chr4	121742491	121742491	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aactgccaaatagaaaatgtTttctccttcctgaaacaaat	4	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:121742491T>G	ENST00000264808.3	-	4	550	c.310A>C	c.(310-312)Aac>Cac	p.N104H	PRDM5_ENST00000515109.1_Missense_Mutation_p.N104H|PRDM5_ENST00000428209.2_Missense_Mutation_p.N104H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	104	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGAAAATGTTTTCTCCTTCC	0.338																																						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.(310-312)Aac>Cac		PR domain containing 5							93	89	90					4																	121742491		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.chr4:121742491T>G	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.310A>C	4.37:g.121742491T>G	ENSP00000264808:p.Asn104His		Somatic				PRDM5_ENST00000428209.2_Missense_Mutation_p.N104H|PRDM5_ENST00000515109.1_Missense_Mutation_p.N104H	p.N104H	NM_018699.2	NP_061169.2	WXS	Illumina GAIIx	Phase_I	Q9NQX1	PRDM5_HUMAN			4	550	-			104			SET.		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.310A>C	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.462785	0.84425	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	D;D;D	0.85088	-1.94;-1.94;-1.94	5.33	5.33	0.75918	SET domain (2);	0.000000	0.85682	D	0.000000	D	0.88381	0.6421	L	0.35542	1.07	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.994;0.999;0.994	D	0.89205	0.3560	10	0.54805	T	0.06	-47.2498	15.5932	0.76554	0.0:0.0:0.0:1.0	.	104;104;104	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	H	104	ENSP00000264808:N104H;ENSP00000422309:N104H;ENSP00000404832:N104H	ENSP00000264808:N104H	N	-	1	0	PRDM5	121961941	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.929000	0.87595	2.134000	0.65973	0.482000	0.46254	AAC		0.338	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			25	33	0	0	0	1	0	25	33					G	121742491	T	G	121742491	3	3	48	1	0	0	0	0	1	0	0	0	12472	1841	64	4	1634	4	PRDM5	4	121742491	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	21614	121742491	69411785	1306	5774										
TNIP3	79931	broad.mit.edu	37	chr4	122053790	122053790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgttagtgtgtacttctacGgatggactttctttactgag	10	7	2	1	rs142456270	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122053790G>A	ENST00000057513.3	-	11	1188	c.974C>T	c.(973-975)cCg>cTg	p.P325L	TNIP3_ENST00000507879.1_3'UTR|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000509841.1_3'UTR|TNIP3_ENST00000454328.1_Missense_Mutation_p.P325L	NM_024873.5	NP_079149.3			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTACTTCTACGGATGGACTTT	0.408													T|||	2	0.000399361	0.0015	0	5008	,	,		18500	0		0	False		,,,				2504	0					ENST00000454328.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(973-975)cCg>cTg		TNFAIP3 interacting protein 3							145	129	134					4																	122053790		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122053790G>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	ENST00000057513.3:c.974C>T	4.37:g.122053790G>A	ENSP00000057513:p.Pro325Leu		Somatic				TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000507879.1_3'UTR|TNIP3_ENST00000057513.3_Missense_Mutation_p.P325L|TNIP3_ENST00000509841.1_3'UTR	p.P325L			WXS	Illumina GAIIx	Phase_I	Q96KP6	TNIP3_HUMAN			13	1201	-			325						Missense_Mutation	SNP	ENST00000057513.3	37	c.974C>T	CCDS3718.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	T	14.59	2.579446	0.46006	.	.	ENSG00000050730	ENST00000057513;ENST00000454328	T;T	0.46063	0.88;0.88	4.99	-3.19	0.05171	.	0.753921	0.10908	N	0.620919	T	0.20088	0.0483	N	0.08118	0	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.15983	-1.0418	10	0.87932	D	0	.	7.7197	0.28725	0.2465:0.0:0.4798:0.2737	.	325	Q96KP6	TNIP3_HUMAN	L	325	ENSP00000057513:P325L;ENSP00000411817:P325L	ENSP00000057513:P325L	P	-	2	0	TNIP3	122273240	0.000000	0.05858	0.035000	0.18076	0.054000	0.15201	-0.535000	0.06142	-0.906000	0.03866	-1.418000	0.01112	CCG		0.408	TNIP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256527.2	NM_024873		3	27	0	0	0	1	0	3	27					A	122053790	G	A	122053790	3	1	48	1	0	0	0	0	1	0	0	0	16331	1116	39	1	7	1	TNIP3	4	122053790	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	311299	122053790	69100486	1307	5775										
TNIP3	79931	broad.mit.edu	37	chr4	122071311	122071311	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcctcatggcagaattccaCtcgagacttcctcaaacagt	6	14	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122071311C>A	ENST00000509841.1	-	9	865	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L	TNIP3_ENST00000057513.3_Missense_Mutation_p.V186L|TNIP3_ENST00000507879.1_Missense_Mutation_p.V256L|TNIP3_ENST00000511909.1_5'Flank|TNIP3_ENST00000454328.1_Missense_Mutation_p.V186L	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CAGAATTCCACTCGAGACTTC	0.438																																						ENST00000454328.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(556-558)Gtg>Ttg		TNFAIP3 interacting protein 3							117	101	106					4																	122071311		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122071311C>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.787G>T	4.37:g.122071311C>A	ENSP00000426613:p.Val263Leu		Somatic				TNIP3_ENST00000507879.1_Missense_Mutation_p.V256L|TNIP3_ENST00000057513.3_Missense_Mutation_p.V186L|TNIP3_ENST00000509841.1_Missense_Mutation_p.V263L	p.V186L			WXS	Illumina GAIIx	Phase_I	Q96KP6	TNIP3_HUMAN			8	783	-			186						Missense_Mutation	SNP	ENST00000509841.1	37	c.556G>T	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	C	4.270	0.049199	0.08243	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.35	-2.36	0.06663	.	1.165620	0.06252	N	0.692318	T	0.35799	0.0944	L	0.36672	1.1	0.09310	N	1	B;B	0.18968	0.001;0.032	B;B	0.14023	0.003;0.01	T	0.15407	-1.0438	10	0.30078	T	0.28	1.6244	2.4584	0.04535	0.1509:0.431:0.1542:0.2638	.	256;186	B4DVF5;Q96KP6	.;TNIP3_HUMAN	L	186;186;256;263	ENSP00000057513:V186L;ENSP00000411817:V186L;ENSP00000427106:V256L;ENSP00000426613:V263L	ENSP00000057513:V186L	V	-	1	0	TNIP3	122290761	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-0.067000	0.11579	-0.606000	0.05746	0.585000	0.79938	GTG		0.438	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		18	27	1	0	2.5808e-16	1	3.43231e-16	18	27					A	122071311	C	A	122071311	3	1	48	1	0	0	0	0	1	0	0	0	16331	565	20	5	445	5	TNIP3	4	122071311	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	17521	122071311	69082965	1308	5776										
TNIP3	79931	broad.mit.edu	37	chr4	122078361	122078361	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctcccgcgtgctgaggaatCtttccgcggcgtccagtttc	11	14	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122078361C>A	ENST00000509841.1	-	7	560	c.482G>T	c.(481-483)aGa>aTa	p.R161I	TNIP3_ENST00000057513.3_Missense_Mutation_p.R84I|TNIP3_ENST00000507879.1_Missense_Mutation_p.R154I|TNIP3_ENST00000454328.1_Missense_Mutation_p.R84I	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GCTGAGGAATCTTTCCGCGGC	0.587																																						ENST00000454328.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(250-252)aGa>aTa		TNFAIP3 interacting protein 3							212	232	225					4																	122078361		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122078361C>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.482G>T	4.37:g.122078361C>A	ENSP00000426613:p.Arg161Ile		Somatic				TNIP3_ENST00000507879.1_Missense_Mutation_p.R154I|TNIP3_ENST00000057513.3_Missense_Mutation_p.R84I|TNIP3_ENST00000509841.1_Missense_Mutation_p.R161I	p.R84I			WXS	Illumina GAIIx	Phase_I	Q96KP6	TNIP3_HUMAN			6	478	-			84						Missense_Mutation	SNP	ENST00000509841.1	37	c.251G>T	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124248	0.37533	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.16	2.35	0.29111	.	0.464644	0.23038	N	0.052657	T	0.70605	0.3243	M	0.68952	2.095	0.09310	N	1	D;D;B	0.71674	0.998;0.994;0.114	D;P;B	0.72075	0.976;0.808;0.032	T	0.57774	-0.7753	10	0.48119	T	0.1	-0.2459	5.0205	0.14358	0.0:0.6637:0.2172:0.1191	.	154;84;84	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	I	84;84;154;161	ENSP00000057513:R84I;ENSP00000411817:R84I;ENSP00000427106:R154I;ENSP00000426613:R161I	ENSP00000057513:R84I	R	-	2	0	TNIP3	122297811	0.000000	0.05858	0.001000	0.08648	0.128000	0.20619	0.228000	0.17814	0.658000	0.30925	0.484000	0.47621	AGA		0.587	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		85	283	1	0	2.56221e-42	1	3.70845e-42	85	283					A	122078361	C	A	122078361	3	1	48	1	0	0	0	0	1	0	0	0	16331	913	32	2	758	2	TNIP3	4	122078361	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	7050	122078361	69075915	1309	5777										
EXOSC9	5393	broad.mit.edu	37	chr4	122724127	122724127	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaagatgtctaagaaattcGaagtgtatagacactgagtc	10	5	1	4	rs368408281		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122724127G>A	ENST00000243498.5	+	4	447	c.339G>A	c.(337-339)tcG>tcA	p.S113S	EXOSC9_ENST00000512454.1_Silent_p.S97S|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Silent_p.S113S	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	113	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						TAAGAAATTCGAAGTGTATAG	0.378																																						ENST00000512454.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						c.(289-291)tcG>tcA		exosome component 9		G	,	1,4405	2.1+/-5.4	0,1,2202	125	117	120		339,339	-6.5	0.8	4		120	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	EXOSC9	NM_001034194.1,NM_005033.2	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	113/457,113/440	122724127	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122724127G>A	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 1 (75kD)"	606180	"polymyositis/scleroderma autoantigen 1, 75kDa"	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.339G>A	4.37:g.122724127G>A			Somatic				EXOSC9_ENST00000379663.3_Silent_p.S113S|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Silent_p.S113S	p.S97S			WXS	Illumina GAIIx	Phase_I	Q06265	EXOS9_HUMAN			3	507	+			113			ARE binding.		Q12883|Q4W5P5|Q86Y41|Q86Y48	Silent	SNP	ENST00000243498.5	37	c.291G>A	CCDS3722.2																																																																																				0.378	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		11	29	0	0	0	1	0	11	29					A	122724127	G	A	122724127	2	1	48	1	0	0	0	0	0	0	0	1	5323	1045	37	1		1	EXOSC9	4	122724127	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	645766	122724127	68430149	1310	5778										
EXOSC9	5393	broad.mit.edu	37	chr4	122728757	122728757	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacatgcccatttgtgtcagTtttgcctttttccagcaagg	8	11	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122728757T>C	ENST00000243498.5	+	6	693	c.585T>C	c.(583-585)agT>agC	p.S195S	EXOSC9_ENST00000512454.1_Silent_p.S179S|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Silent_p.S195S	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	195	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						TTTGTGTCAGTTTTGCCTTTT	0.368																																						ENST00000512454.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						c.(535-537)agT>agC		exosome component 9							217	191	200					4																	122728757		2203	4300	6503	SO:0001819	synonymous_variant	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122728757T>C	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 1 (75kD)"	606180	"polymyositis/scleroderma autoantigen 1, 75kDa"	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.585T>C	4.37:g.122728757T>C			Somatic				EXOSC9_ENST00000379663.3_Silent_p.S195S|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Silent_p.S195S	p.S179S			WXS	Illumina GAIIx	Phase_I	Q06265	EXOS9_HUMAN			5	753	+			195			ARE binding.		Q12883|Q4W5P5|Q86Y41|Q86Y48	Silent	SNP	ENST00000243498.5	37	c.537T>C	CCDS3722.2	.	.	.	.	.	.	.	.	.	.	T	11.64	1.699902	0.30142	.	.	ENSG00000123737	ENST00000511132	.	.	.	6.16	-3.87	0.04218	.	.	.	.	.	T	0.65739	0.2720	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66432	-0.5925	4	.	.	.	-29.8041	15.9335	0.79683	0.0:0.6014:0.0:0.3986	.	.	.	.	L	31	.	.	F	+	1	0	EXOSC9	122948207	0.990000	0.36364	0.975000	0.42487	0.997000	0.91878	0.234000	0.17930	-0.624000	0.05611	0.528000	0.53228	TTT		0.368	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		22	29	0	0	0	1	0	22	29					C	122728757	T	C	122728757	2	2	48	1	0	0	0	0	0	0	0	1	5323	1722	60	4		4	EXOSC9	4	122728757	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	4630	122728757	68425519	1311	5779										
BBS7	55212	broad.mit.edu	37	chr4	122749316	122749316	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctaaccatagagtctttcaaGatgtgcaggttgctttttgt	9	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122749316G>T	ENST00000264499.4	-	18	2182	c.1999C>A	c.(1999-2001)Ctt>Att	p.L667I	BBS7_ENST00000506636.1_Missense_Mutation_p.L667I	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	667					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGTCTTTCAAGATGTGCAGGT	0.398									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1999-2001)Ctt>Att		Bardet-Biedl syndrome 7							222	220	221					4																	122749316		2203	4300	6503	SO:0001583	missense	0	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122749316G>T	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1999C>A	4.37:g.122749316G>T	ENSP00000264499:p.Leu667Ile		Somatic				BBS7_ENST00000506636.1_Missense_Mutation_p.L667I	p.L667I	NM_176824.2	NP_789794.1	WXS	Illumina GAIIx	Phase_I	Q8IWZ6	BBS7_HUMAN			18	2182	-			667					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.1999C>A	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553648	0.86231	.	.	ENSG00000138686	ENST00000264499;ENST00000507814;ENST00000506636	T;T;T	0.79141	-1.24;-1.24;-1.24	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	M	0.88031	2.925	0.58432	D	0.999999	D	0.69078	0.997	P	0.61874	0.895	D	0.88443	0.3043	10	0.38643	T	0.18	-16.2795	19.5165	0.95167	0.0:0.0:1.0:0.0	.	667	Q8IWZ6	BBS7_HUMAN	I	667;90;667	ENSP00000264499:L667I;ENSP00000423250:L90I;ENSP00000423626:L667I	ENSP00000264499:L667I	L	-	1	0	BBS7	122968766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.465000	0.73538	2.785000	0.95823	0.655000	0.94253	CTT		0.398	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			12	84	1	0	3.07112e-06	1	3.42433e-06	12	84					T	122749316	G	T	122749316	3	4	48	1	0	0	0	0	1	0	0	0	1341	942	33	2	161	2	BBS7	4	122749316	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	20559	122749316	68404960	1312	5780										
BBS7	55212	broad.mit.edu	37	chr4	122756435	122756435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atactggccttcaattgagcGaatctgattcaacacaaaag	7	9	3	2	rs150743868	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122756435G>A	ENST00000264499.4	-	14	1558	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	BBS7_ENST00000506636.1_Missense_Mutation_p.R459C	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	459					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCAATTGAGCGAATCTGATTC	0.358									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1375-1377)Cgc>Tgc		Bardet-Biedl syndrome 7		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	157	142	147		1375,1375	5.4	1	4	dbSNP_134	147	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	BBS7	NM_018190.3,NM_176824.2	180,180	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	probably-damaging,probably-damaging	459/673,459/716	122756435	4,13002	2203	4300	6503	SO:0001583	missense	0	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122756435G>A	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1375C>T	4.37:g.122756435G>A	ENSP00000264499:p.Arg459Cys		Somatic				BBS7_ENST00000506636.1_Missense_Mutation_p.R459C	p.R459C	NM_176824.2	NP_789794.1	WXS	Illumina GAIIx	Phase_I	Q8IWZ6	BBS7_HUMAN			14	1558	-			459					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.1375C>T	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278676	0.80692	2.27E-4	3.49E-4	ENSG00000138686	ENST00000264499;ENST00000506636	T;T	0.78595	-1.19;-1.19	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.89996	0.6877	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.90770	0.4671	10	0.52906	T	0.07	-9.2483	19.2795	0.94046	0.0:0.0:1.0:0.0	.	459	Q8IWZ6	BBS7_HUMAN	C	459	ENSP00000264499:R459C;ENSP00000423626:R459C	ENSP00000264499:R459C	R	-	1	0	BBS7	122975885	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.005000	0.70716	2.549000	0.85964	0.650000	0.86243	CGC		0.358	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			21	29	0	0	0	1	0	21	29					A	122756435	G	A	122756435	3	1	48	1	0	0	0	0	1	0	0	0	1341	1058	37	1	801	1	BBS7	4	122756435	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	7119	122756435	68397841	1313	5781										
BBS7	55212	broad.mit.edu	37	chr4	122765149	122765149	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catcaagtaaatctattggaAcatcactctatagtcaatat	4	8	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122765149A>G	ENST00000264499.4	-	12	1421	c.1238T>C	c.(1237-1239)gTt>gCt	p.V413A	BBS7_ENST00000506636.1_Missense_Mutation_p.V413A	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	413					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATCTATTGGAACATCACTCTA	0.303									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1237-1239)gTt>gCt		Bardet-Biedl syndrome 7							41	41	41					4																	122765149		2197	4296	6493	SO:0001583	missense	0	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122765149A>G	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1238T>C	4.37:g.122765149A>G	ENSP00000264499:p.Val413Ala		Somatic				BBS7_ENST00000506636.1_Missense_Mutation_p.V413A	p.V413A	NM_176824.2	NP_789794.1	WXS	Illumina GAIIx	Phase_I	Q8IWZ6	BBS7_HUMAN			12	1421	-			413					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.1238T>C	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.424578	0.83667	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	T;T	0.77877	-1.13;-1.13	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.80994	0.4731	M	0.64567	1.98	0.80722	D	1	P	0.48089	0.905	P	0.49047	0.599	T	0.79541	-0.1761	10	0.33141	T	0.24	-20.9552	16.6438	0.85155	1.0:0.0:0.0:0.0	.	413	Q8IWZ6	BBS7_HUMAN	A	413	ENSP00000264499:V413A;ENSP00000423626:V413A	ENSP00000264499:V413A	V	-	2	0	BBS7	122984599	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.262000	0.95591	2.333000	0.79357	0.533000	0.62120	GTT		0.303	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			5	8	0	0	0	1	0	5	8					G	122765149	A	G	122765149	3	3	48	1	0	0	0	0	1	0	0	0	1341	43	2	4	946	4	BBS7	4	122765149	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	8714	122765149	68389127	1314	5782										
BBS7	55212	broad.mit.edu	37	chr4	122780322	122780322	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cactgagaaagaggtctgagCcagatatgtgcctgagaaca	12	8	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122780322C>A	ENST00000264499.4	-	5	536	c.353G>T	c.(352-354)gGc>gTc	p.G118V	BBS7_ENST00000506636.1_Missense_Mutation_p.G118V	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	118					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAGGTCTGAGCCAGATATGTG	0.318									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(352-354)gGc>gTc		Bardet-Biedl syndrome 7							90	95	93					4																	122780322		2203	4300	6503	SO:0001583	missense	0	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122780322C>A	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.353G>T	4.37:g.122780322C>A	ENSP00000264499:p.Gly118Val		Somatic				BBS7_ENST00000506636.1_Missense_Mutation_p.G118V	p.G118V	NM_176824.2	NP_789794.1	WXS	Illumina GAIIx	Phase_I	Q8IWZ6	BBS7_HUMAN			5	536	-			118					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.353G>T	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601312	0.87055	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	T;T	0.70869	-0.52;-0.52	5.17	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80385	0.4613	M	0.78637	2.42	0.80722	D	1	P	0.49783	0.928	P	0.51487	0.671	D	0.83597	0.0126	10	0.72032	D	0.01	-11.5544	18.6683	0.91501	0.0:1.0:0.0:0.0	.	118	Q8IWZ6	BBS7_HUMAN	V	118	ENSP00000264499:G118V;ENSP00000423626:G118V	ENSP00000264499:G118V	G	-	2	0	BBS7	122999772	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.492000	0.81482	2.413000	0.81919	0.655000	0.94253	GGC		0.318	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			39	53	1	0	1.03484e-13	1	1.33003e-13	39	53					A	122780322	C	A	122780322	3	1	48	1	0	0	0	0	1	0	0	0	1341	739	26	5	1859	5	BBS7	4	122780322	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	15173	122780322	68373954	1315	5783										
KIAA1109	84162	broad.mit.edu	37	chr4	123140528	123140528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggaagatgacatgtatatgGattttgaagaggttatctca	12	3	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:123140528G>A	ENST00000264501.4	+	21	2654	c.2281G>A	c.(2281-2283)Gat>Aat	p.D761N	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.D761N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.D761N			Q2LD37	K1109_HUMAN	KIAA1109	761					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						CATGTATATGGATTTTGAAGA	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.(2281-2283)Gat>Aat		KIAA1109							167	156	159					4																	123140528		1839	4085	5924	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123140528G>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.2281G>A	4.37:g.123140528G>A	ENSP00000264501:p.Asp761Asn		Somatic				KIAA1109_ENST00000455637.1_Missense_Mutation_p.D761N|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.D761N	p.D761N			WXS	Illumina GAIIx	Phase_I	Q2LD37	K1109_HUMAN			21	2654	+			761					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.2281G>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.313976|5.313976	0.95655|0.95655	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	T;T;T|.	0.28666|.	2.16;2.16;1.6|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.546120|.	0.17051|.	N|.	0.188920|.	T|T	0.76828|0.76828	0.4042|0.4042	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.997|.	D;D|.	0.87578|.	0.998;0.989|.	T|T	0.74315|0.74315	-0.3705|-0.3705	10|5	0.59425|.	D|.	0.04|.	.|.	20.1162|20.1162	0.97934|0.97934	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	761;761|.	Q2LD37-5;Q2LD37|.	.;K1109_HUMAN|.	N|E	761|593	ENSP00000264501:D761N;ENSP00000373390:D761N;ENSP00000389925:D761N|.	ENSP00000264501:D761N|.	D|G	+|+	1|2	0|0	KIAA1109|KIAA1109	123359978|123359978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	9.787000|9.787000	0.99055|0.99055	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.353	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		4	92	0	0	0	1	0	4	92					A	123140528	G	A	123140528	3	1	48	1	0	0	0	0	1	0	0	0	8217	1174	41	3	2355	3	KIAA1109	4	123140528	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	360206	123140528	68013748	1316	5784										
IL21	59067	broad.mit.edu	37	chr4	123534041	123534041	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttgaatctttctaggaattCtttgggtggttttttctcat	8	5	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:123534041C>A	ENST00000264497.3	-	4	460	c.403G>T	c.(403-405)Gaa>Taa	p.E135*		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	128					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)	p.E135*(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TCTAGGAATTCTTTGGGTGGT	0.299																																						ENST00000264497.3																			1	Substitution - Nonsense(1)	p.E135*(1)	large_intestine(1)	NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						c.(403-405)Gaa>Taa		interleukin 21							80	87	85					4																	123534041		2203	4300	6503	SO:0001587	stop_gained	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.chr4:123534041C>A	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.403G>T	4.37:g.123534041C>A	ENSP00000264497:p.Glu135*		Somatic					p.E135*	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	WXS	Illumina GAIIx	Phase_I	Q9HBE4	IL21_HUMAN			4	460	-			128					A5J0L4	Nonsense_Mutation	SNP	ENST00000264497.3	37	c.403G>T	CCDS3727.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423765	0.62733	.	.	ENSG00000138684	ENST00000264497	.	.	.	4.81	3.91	0.45181	.	0.000000	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.7765	11.5764	0.50864	0.0:0.8194:0.1806:0.0	.	.	.	.	X	135	.	ENSP00000264497:E135X	E	-	1	0	IL21	123753491	0.895000	0.30542	1.000000	0.80357	0.995000	0.86356	1.002000	0.29796	2.214000	0.71695	0.467000	0.42956	GAA		0.299	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803		15	24	1	0	7.93312e-07	1	8.98086e-07	15	24					A	123534041	C	A	123534041	4	1	48	1	0	0	0	0	0	1	0	0	7679	922	32	2	93	2	IL21	4	123534041	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	393513	123534041	67620235	1317	5785										
SPATA5	166378	broad.mit.edu	37	chr4	123949434	123949434	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacatccagagtctttcattCgaatgggtattcagccacct	7	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:123949434C>T	ENST00000274008.4	+	11	2032	c.1963C>T	c.(1963-1965)Cga>Tga	p.R655*	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	655					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						GTCTTTCATTCGAATGGGTAT	0.448																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1963-1965)Cga>Tga		spermatogenesis associated 5							137	133	134					4																	123949434		2203	4300	6503	SO:0001587	stop_gained	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123949434C>T	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.1963C>T	4.37:g.123949434C>T	ENSP00000274008:p.Arg655*		Somatic				SPATA5_ENST00000422835.2_3'UTR	p.R655*	NM_145207.2	NP_660208.2	WXS	Illumina GAIIx	Phase_I	Q8NB90	SPAT5_HUMAN			11	2032	+			655					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Nonsense_Mutation	SNP	ENST00000274008.4	37	c.1963C>T	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	C	39	7.854246	0.98525	.	.	ENSG00000145375	ENST00000274008	.	.	.	5.79	3.91	0.45181	.	0.065330	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9477	14.3133	0.66432	0.278:0.722:0.0:0.0	.	.	.	.	X	655	.	ENSP00000274008:R655X	R	+	1	2	SPATA5	124168884	0.986000	0.35501	0.820000	0.32676	0.964000	0.63967	2.852000	0.48310	1.384000	0.46424	0.585000	0.79938	CGA		0.448	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		42	69	0	0	0	1	0	42	69					T	123949434	C	T	123949434	4	4	48	1	0	0	0	0	0	1	0	0	15026	876	31	1	2005	1	SPATA5	4	123949434	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	415393	123949434	67204842	1318	5786										
SPRY1	10252	broad.mit.edu	37	chr4	124323486	124323486	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctattcagataatccttgctCctgttcacaatcacactgct	4	13	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:124323486C>T	ENST00000394339.2	+	2	1080	c.740C>T	c.(739-741)tCc>tTc	p.S247F	SPRY1_ENST00000339241.1_Missense_Mutation_p.S247F	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	247	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AATCCTTGCTCCTGTTCACAA	0.458																																						ENST00000394339.2																			0				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						c.(739-741)tCc>tTc		sprouty homolog 1, antagonist of FGF signaling (Drosophila)							280	237	252					4																	124323486		2203	4300	6503	SO:0001583	missense	10252				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane		g.chr4:124323486C>T	AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.740C>T	4.37:g.124323486C>T	ENSP00000377871:p.Ser247Phe		Somatic				SPRY1_ENST00000339241.1_Missense_Mutation_p.S247F	p.S247F	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	WXS	Illumina GAIIx	Phase_I	O43609	SPY1_HUMAN			2	1080	+			247			Cys-rich.|SPR.		D3DNX6|Q6PNE0	Missense_Mutation	SNP	ENST00000394339.2	37	c.740C>T	CCDS3731.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930572	0.73327	.	.	ENSG00000164056	ENST00000339241;ENST00000394339	T;T	0.68624	-0.34;-0.34	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	M	0.85710	2.77	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	D	0.85418	0.1141	9	.	.	.	-14.4102	17.6163	0.88068	0.0:1.0:0.0:0.0	.	247	O43609	SPY1_HUMAN	F	247	ENSP00000343785:S247F;ENSP00000377871:S247F	.	S	+	2	0	SPRY1	124542936	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.997000	0.76270	2.541000	0.85698	0.561000	0.74099	TCC		0.458	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256711.1			41	79	0	0	0	1	0	41	79					T	124323486	C	T	124323486	3	4	48	1	0	0	0	0	1	0	0	0	15120	855	30	3	742	3	SPRY1	4	124323486	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	374052	124323486	66830790	1319	5787										
ANKRD50	57182	broad.mit.edu	37	chr4	125592847	125592847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccattatctaataatgtccGaatggaatcctctctttcta	4	10	3	0	rs368187440		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:125592847G>A	ENST00000504087.1	-	4	2622	c.1585C>T	c.(1585-1587)Cgg>Tgg	p.R529W	ANKRD50_ENST00000515641.1_Missense_Mutation_p.R350W	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	529										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						AATAATGTCCGAATGGAATCC	0.418																																						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.(1585-1587)Cgg>Tgg		ankyrin repeat domain 50		G	TRP/ARG,TRP/ARG	1,4405		0,1,2202	118	116	117		1048,1585	2.9	1	4		117	0,8600		0,0,4300	no	missense,missense	ANKRD50	NM_001167882.1,NM_020337.2	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	350/1251,529/1430	125592847	1,13005	2203	4300	6503	SO:0001583	missense	57182							g.chr4:125592847G>A	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1585C>T	4.37:g.125592847G>A	ENSP00000425658:p.Arg529Trp		Somatic				ANKRD50_ENST00000515641.1_Missense_Mutation_p.R350W	p.R529W	NM_020337.2	NP_065070.1	WXS	Illumina GAIIx	Phase_I	Q9ULJ7	ANR50_HUMAN			4	2622	-			529					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.1585C>T	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011274	0.54361	2.27E-4	0.0	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.66815	-0.23;2.33	4.74	2.92	0.33932	Ankyrin repeat-containing domain (4);	0.070783	0.53938	D	0.000053	T	0.81254	0.4784	M	0.87180	2.865	0.54753	D	0.999983	D	0.76494	0.999	P	0.62649	0.905	D	0.83854	0.0264	10	0.87932	D	0	.	13.1658	0.59571	0.0:0.0:0.6929:0.3071	.	529	Q9ULJ7	ANR50_HUMAN	W	529;350	ENSP00000425658:R529W;ENSP00000425355:R350W	ENSP00000425658:R529W	R	-	1	2	ANKRD50	125812297	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	2.558000	0.45879	0.541000	0.28827	0.555000	0.69702	CGG		0.418	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		39	63	0	0	0	1	0	39	63					A	125592847	G	A	125592847	3	1	48	1	0	0	0	0	1	0	0	0	677	1057	37	1	2708	1	ANKRD50	4	125592847	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1269361	125592847	65561429	1320	5788										
FAT4	79633	broad.mit.edu	37	chr4	126239028	126239028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagtgaacctgagcgaggagGcgcctccgggaagctatgtg	17	9	0	2	rs370892297		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126239028G>A	ENST00000394329.3	+	1	1475	c.1462G>A	c.(1462-1464)Gcg>Acg	p.A488T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	488	Cadherin 5. {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						GAGCGAGGAGGCGCCTCCGGG	0.512											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.(1462-1464)Gcg>Acg		FAT atypical cadherin 4		G	THR/ALA	1,4403	2.1+/-5.4	0,1,2201	42	45	44		1462	4.7	1	4		44	0,8596		0,0,4298	no	missense	FAT4	NM_024582.4	58	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	488/4982	126239028	1,12999	2202	4298	6500	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126239028G>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.1462G>A	4.37:g.126239028G>A	ENSP00000377862:p.Ala488Thr		Somatic	OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.A488T	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			1	1475	+			488			Cadherin 5.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.1462G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608429	0.28623	2.27E-4	0.0	ENSG00000196159	ENST00000394329	T	0.55413	0.52	4.66	4.66	0.58398	Cadherin (3);Cadherin-like (1);	0.530163	0.13697	U	0.369099	T	0.48241	0.1489	L	0.45137	1.4	0.80722	D	1	B	0.19445	0.036	B	0.29176	0.099	T	0.39522	-0.9610	10	0.36615	T	0.2	.	12.8225	0.57700	0.0:0.0:0.8369:0.1631	.	488	Q6V0I7	FAT4_HUMAN	T	488	ENSP00000377862:A488T	ENSP00000377862:A488T	A	+	1	0	FAT4	126458478	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.872000	0.56085	2.419000	0.82065	0.561000	0.74099	GCG		0.512	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		11	29	0	0	0	1	0	11	29					A	126239028	G	A	126239028	3	1	48	1	0	0	0	0	1	0	0	0	5700	1203	42	3	1464	3	FAT4	4	126239028	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	646181	126239028	64915248	1321	5789										
FAT4	79633	broad.mit.edu	37	chr4	126240330	126240330	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaaagctgtggaccctgatGaaggtgtcaatggcatggta	13	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126240330G>T	ENST00000394329.3	+	1	2777	c.2764G>T	c.(2764-2766)Gaa>Taa	p.E922*		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	922	Cadherin 9. {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						GGACCCTGATGAAGGTGTCAA	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.(2764-2766)Gaa>Taa		FAT atypical cadherin 4							52	54	54					4																	126240330		1944	4155	6099	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240330G>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.2764G>T	4.37:g.126240330G>T	ENSP00000377862:p.Glu922*		Somatic					p.E922*	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			1	2777	+			922			Cadherin 9.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.2764G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	41	8.871924	0.98986	.	.	ENSG00000196159	ENST00000394329	.	.	.	5.51	4.62	0.57501	.	0.000000	0.35179	U	0.003385	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	15.8182	0.78621	0.0:0.1359:0.8641:0.0	.	.	.	.	X	922	.	ENSP00000377862:E922X	E	+	1	0	FAT4	126459780	1.000000	0.71417	0.985000	0.45067	0.932000	0.56968	7.740000	0.84986	2.593000	0.87608	0.655000	0.94253	GAA		0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		12	31	1	0	5.50884e-06	1	6.10489e-06	12	31					T	126240330	G	T	126240330	4	4	48	1	0	0	0	0	0	1	0	0	5700	1291	45	2	2766	2	FAT4	4	126240330	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1302	126240330	64913946	1322	5790										
FAT4	79633	broad.mit.edu	37	chr4	126240857	126240857	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagatgtaaatgataacagAcctctttttaacagtaccaa	6	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126240857A>G	ENST00000394329.3	+	1	3304	c.3291A>G	c.(3289-3291)agA>agG	p.R1097R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1097	Cadherin 10. {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						ATGATAACAGACCTCTTTTTA	0.393																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(3289-3291)agA>agG		FAT atypical cadherin 4							167	160	162					4																	126240857		1870	4082	5952	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240857A>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.3291A>G	4.37:g.126240857A>G			Somatic					p.R1097R	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			1	3304	+			1097			Cadherin 10.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.3291A>G	CCDS3732.3																																																																																				0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		18	98	0	0	0	1	0	18	98					G	126240857	A	G	126240857	2	3	48	1	0	0	0	0	0	0	0	1	5700	272	10	4		4	FAT4	4	126240857	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	527	126240857	64913419	1323	5791										
FAT4	79633	broad.mit.edu	37	chr4	126336725	126336725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtaataccaatcaggaatttCggatagactctgtcacaggt	9	8	3	1	rs374328795		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126336725C>T	ENST00000394329.3	+	5	6620	c.6607C>T	c.(6607-6609)Cgg>Tgg	p.R2203W	FAT4_ENST00000335110.5_Missense_Mutation_p.R501W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2203	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCAGGAATTTCGGATAGACTC	0.443																																						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.(6607-6609)Cgg>Tgg		FAT atypical cadherin 4		C	TRP/ARG	0,4406		0,0,2203	151	139	143		6607	2.4	1	4		143	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAT4	NM_024582.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2203/4982	126336725	1,13005	2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336725C>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.6607C>T	4.37:g.126336725C>T	ENSP00000377862:p.Arg2203Trp		Somatic				FAT4_ENST00000335110.5_Missense_Mutation_p.R501W	p.R2203W	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			5	6620	+			2203			Cadherin 21.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6607C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800489	0.50315	0.0	1.16E-4	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01787	4.64;4.64	5.6	2.38	0.29361	Cadherin (4);Cadherin-like (1);	0.000000	0.32987	U	0.005412	T	0.07683	0.0193	M	0.65498	2.005	0.44719	D	0.997712	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.03249	-1.1056	10	0.59425	D	0.04	.	11.0546	0.47911	0.3628:0.5321:0.1051:0.0	.	501;2203	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	W	2203;501	ENSP00000377862:R2203W;ENSP00000335169:R501W	ENSP00000335169:R501W	R	+	1	2	FAT4	126556175	1.000000	0.71417	0.991000	0.47740	0.633000	0.38033	1.443000	0.35057	0.625000	0.30304	0.557000	0.71058	CGG		0.443	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		42	94	0	0	0	1	0	42	94					T	126336725	C	T	126336725	3	4	48	1	0	0	0	0	1	0	0	0	5700	875	31	1	6625	1	FAT4	4	126336725	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	95868	126336725	64817551	1324	5792										
FAT4	79633	broad.mit.edu	37	chr4	126370224	126370224	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattggaaaacctttcccctCgaaaaatacttactgtttcg	5	10	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126370224C>T	ENST00000394329.3	+	9	8066	c.8053C>T	c.(8053-8055)Cga>Tga	p.R2685*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R983*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2685	Cadherin 26. {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						CCTTTCCCCTCGAAAAATACT	0.343																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(8053-8055)Cga>Tga		FAT atypical cadherin 4							113	117	116					4																	126370224		2203	4299	6502	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126370224C>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.8053C>T	4.37:g.126370224C>T	ENSP00000377862:p.Arg2685*		Somatic				FAT4_ENST00000335110.5_Nonsense_Mutation_p.R983*	p.R2685*	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			9	8066	+			2685			Cadherin 26.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.8053C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	49	15.444621	0.99834	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.9	5.04	0.67666	.	0.000000	0.29876	U	0.010980	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	10.4875	0.44731	0.1351:0.7966:0.0:0.0683	.	.	.	.	X	2685;983	.	ENSP00000335169:R983X	R	+	1	2	FAT4	126589674	1.000000	0.71417	0.923000	0.36655	0.916000	0.54674	2.469000	0.45110	1.453000	0.47775	0.650000	0.86243	CGA		0.343	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		56	75	0	0	0	1	0	56	75					T	126370224	C	T	126370224	4	4	48	1	0	0	0	0	0	1	0	0	5700	876	31	1	8087	1	FAT4	4	126370224	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	33499	126370224	64784052	1325	5793										
FAT4	79633	broad.mit.edu	37	chr4	126370783	126370783	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catcaatgacaatgctccaaGatttagcagaacttcctatt	5	10	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126370783G>A	ENST00000394329.3	+	9	8625	c.8612G>A	c.(8611-8613)aGa>aAa	p.R2871K	FAT4_ENST00000335110.5_Missense_Mutation_p.R1169K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2871	Cadherin 27. {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						AATGCTCCAAGATTTAGCAGA	0.403																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(8611-8613)aGa>aAa		FAT atypical cadherin 4							87	85	86					4																	126370783		2203	4299	6502	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126370783G>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.8612G>A	4.37:g.126370783G>A	ENSP00000377862:p.Arg2871Lys		Somatic				FAT4_ENST00000335110.5_Missense_Mutation_p.R1169K	p.R2871K	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			9	8625	+			2871			Cadherin 27.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.8612G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886589	0.51908	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01705	4.68;4.68	5.51	5.51	0.81932	Cadherin (2);Cadherin-like (1);	0.000000	0.34879	U	0.003612	T	0.04998	0.0134	N	0.25957	0.775	0.58432	D	0.999993	D;D;D	0.67145	0.99;0.989;0.996	D;D;D	0.77557	0.979;0.912;0.99	T	0.61407	-0.7069	10	0.07990	T	0.79	.	19.7859	0.96437	0.0:0.0:1.0:0.0	.	1169;2871;2871	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	K	2871;1169	ENSP00000377862:R2871K;ENSP00000335169:R1169K	ENSP00000335169:R1169K	R	+	2	0	FAT4	126590233	1.000000	0.71417	0.731000	0.30826	0.138000	0.21146	9.611000	0.98342	2.746000	0.94184	0.655000	0.94253	AGA		0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		37	40	0	0	0	1	0	37	40					A	126370783	G	A	126370783	3	1	48	1	0	0	0	0	1	0	0	0	5700	942	33	3	8646	3	FAT4	4	126370783	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	559	126370783	64783493	1326	5794										
FAT4	79633	broad.mit.edu	37	chr4	126371571	126371571	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcatttcttcaggaaatgaaGaaggcatttttgcaatcaat	8	6	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126371571G>T	ENST00000394329.3	+	9	9413	c.9400G>T	c.(9400-9402)Gaa>Taa	p.E3134*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.E1432*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3134	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGAAATGAAGAAGGCATTTT	0.393																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9400-9402)Gaa>Taa		FAT atypical cadherin 4							66	67	67					4																	126371571		2203	4300	6503	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371571G>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.9400G>T	4.37:g.126371571G>T	ENSP00000377862:p.Glu3134*		Somatic				FAT4_ENST00000335110.5_Nonsense_Mutation_p.E1432*	p.E3134*	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			9	9413	+			3134			Cadherin 30.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.9400G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	50	16.117429	0.99854	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.63	3.83	0.44106	.	0.302521	0.18061	U	0.152947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	11.9897	0.53168	0.1435:0.0:0.8565:0.0	.	.	.	.	X	3134;1432	.	ENSP00000335169:E1432X	E	+	1	0	FAT4	126591021	0.832000	0.29368	0.632000	0.29296	0.770000	0.43624	3.202000	0.51067	1.316000	0.45131	0.655000	0.94253	GAA		0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		10	38	1	0	7.48243e-07	1	8.49459e-07	10	38					T	126371571	G	T	126371571	4	4	48	1	0	0	0	0	0	1	0	0	5700	943	33	2	9434	2	FAT4	4	126371571	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	788	126371571	64782705	1327	5795										
FAT4	79633	broad.mit.edu	37	chr4	126411468	126411468	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgagtcagggccctgaagaGatctctctgcctttgtgggc	13	11	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126411468G>T	ENST00000394329.3	+	17	13504	c.13491G>T	c.(13489-13491)gaG>gaT	p.E4497D	FAT4_ENST00000335110.5_Missense_Mutation_p.E2738D	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4497					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						GCCCTGAAGAGATCTCTCTGC	0.607																																						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.(13489-13491)gaG>gaT		FAT atypical cadherin 4							80	79	80					4																	126411468		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411468G>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.13491G>T	4.37:g.126411468G>T	ENSP00000377862:p.Glu4497Asp		Somatic				FAT4_ENST00000335110.5_Missense_Mutation_p.E2738D	p.E4497D	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			17	13504	+			4497					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13491G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195526	0.38806	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.75938	-0.8;-0.98	5.17	5.17	0.71159	.	0.000000	0.34676	U	0.003761	T	0.62575	0.2439	L	0.39085	1.19	0.33306	D	0.565408	B;B;B	0.31817	0.341;0.231;0.341	B;B;B	0.30495	0.116;0.054;0.116	T	0.68534	-0.5383	10	0.25106	T	0.35	.	11.1826	0.48638	0.0838:0.0:0.9162:0.0	.	2738;4497;4496	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	D	4497;2738	ENSP00000377862:E4497D;ENSP00000335169:E2738D	ENSP00000335169:E2738D	E	+	3	2	FAT4	126630918	0.935000	0.31712	0.999000	0.59377	0.803000	0.45373	1.141000	0.31528	2.395000	0.81488	0.561000	0.74099	GAG		0.607	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		47	74	1	0	8.86878e-18	1	1.19361e-17	47	74					T	126411468	G	T	126411468	3	4	48	1	0	0	0	0	1	0	0	0	5700	933	33	2	13557	2	FAT4	4	126411468	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	39897	126411468	64742808	1328	5796										
INTU	27152	broad.mit.edu	37	chr4	128605632	128605632	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttaaaatttatgtatggttCtttagataggtaagtacttc	7	4	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:128605632C>A	ENST00000335251.6	+	7	1353	c.1250C>A	c.(1249-1251)tCt>tAt	p.S417Y		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	417					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						ATGTATGGTTCTTTAGATAGG	0.303																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(1249-1251)tCt>tAt		inturned planar cell polarity protein							82	81	81					4																	128605632		2203	4298	6501	SO:0001583	missense	27152							g.chr4:128605632C>A	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.1250C>A	4.37:g.128605632C>A	ENSP00000334003:p.Ser417Tyr		Somatic					p.S417Y	NM_015693.3	NP_056508.2	WXS	Illumina GAIIx	Phase_I	Q9ULD6	PDZD6_HUMAN			7	1353	+			417					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.1250C>A	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018166	0.54576	.	.	ENSG00000164066	ENST00000335251	T	0.34275	1.37	4.48	4.48	0.54585	.	0.060472	0.64402	D	0.000002	T	0.60932	0.2307	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.67237	-0.5721	10	0.87932	D	0	-16.0616	17.3652	0.87362	0.0:1.0:0.0:0.0	.	417	Q9ULD6	PDZD6_HUMAN	Y	417	ENSP00000334003:S417Y	ENSP00000334003:S417Y	S	+	2	0	INTU	128825082	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.998000	0.57024	2.304000	0.77564	0.591000	0.81541	TCT		0.303	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		8	10	1	0	5.4927e-09	1	6.54492e-09	8	10					A	128605632	C	A	128605632	3	1	48	1	0	0	0	0	1	0	0	0	7795	913	32	2	1276	2	INTU	4	128605632	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2194164	128605632	62548644	1329	5797										
PLK4	10733	broad.mit.edu	37	chr4	128814548	128814548	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagcttgaaagaggagataaAaatgtatatggaccatgcta	10	4	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:128814548A>C	ENST00000270861.5	+	11	2571	c.2297A>C	c.(2296-2298)aAa>aCa	p.K766T	PLK4_ENST00000514379.1_Missense_Mutation_p.K725T|PLK4_ENST00000515069.1_Missense_Mutation_p.K688T|PLK4_ENST00000507249.1_Missense_Mutation_p.K705T|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000513090.1_Missense_Mutation_p.K734T	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	766					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						GAGGAGATAAAAATGTATATG	0.318																																					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.(2296-2298)aAa>aCa		polo-like kinase 4							87	89	88					4																	128814548		2202	4300	6502	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128814548A>C	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.2297A>C	4.37:g.128814548A>C	ENSP00000270861:p.Lys766Thr		Somatic				PLK4_ENST00000507249.1_Missense_Mutation_p.K705T|PLK4_ENST00000513090.1_Missense_Mutation_p.K734T|PLK4_ENST00000515069.1_Missense_Mutation_p.K688T|PLK4_ENST00000514379.1_Missense_Mutation_p.K725T	p.K766T	NM_014264.4	NP_055079.3	WXS	Illumina GAIIx	Phase_I	O00444	PLK4_HUMAN			11	2571	+			766					B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.2297A>C	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	A	9.997	1.232400	0.22626	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.69435	-0.26;-0.26;-0.4;-0.26;-0.33	5.08	1.31	0.21738	.	0.281276	0.38663	N	0.001619	T	0.54367	0.1854	L	0.54323	1.7	0.09310	N	1	P;P	0.40834	0.73;0.611	B;B	0.38056	0.264;0.135	T	0.51576	-0.8688	10	0.72032	D	0.01	-5.2981	4.7472	0.13043	0.6201:0.1513:0.2286:0.0	.	734;766	O00444-2;O00444	.;PLK4_HUMAN	T	766;688;734;705;725	ENSP00000270861:K766T;ENSP00000421774:K688T;ENSP00000427554:K734T;ENSP00000423412:K705T;ENSP00000423582:K725T	ENSP00000270861:K766T	K	+	2	0	PLK4	129033998	1.000000	0.71417	0.033000	0.17914	0.041000	0.13682	3.923000	0.56469	0.088000	0.17205	0.533000	0.62120	AAA		0.318	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			14	41	0	0	0	1	0	14	41					C	128814548	A	C	128814548	3	2	48	1	0	0	0	0	1	0	0	0	12107	14	1	4	2339	4	PLK4	4	128814548	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	208916	128814548	62339728	1330	5798										
SLC7A11	23657	broad.mit.edu	37	chr4	139101830	139101830	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catatctgggcatttgtatcGaagataaatcagcccagcaa	8	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:139101830G>A	ENST00000280612.5	-	10	1510	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	SLC7A11-AS1_ENST00000510767.1_RNA	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	411					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	CATTTGTATCGAAGATAAATC	0.438																																						ENST00000280612.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18						c.(1231-1233)Cga>Tga		solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)						68	68	68					4																	139101830		2203	4300	6503	SO:0001587	stop_gained	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139101830G>A	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"Solute carriers"	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.1231C>T	4.37:g.139101830G>A	ENSP00000280612:p.Arg411*		Somatic					p.R411*	NM_014331.3	NP_055146.1	WXS	Illumina GAIIx	Phase_I	Q9UPY5	XCT_HUMAN			10	1510	-	all_hematologic(180;0.166)		411					A8K2U4	Nonsense_Mutation	SNP	ENST00000280612.5	37	c.1231C>T	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	G	40	8.218172	0.98712	.	.	ENSG00000151012	ENST00000280612	.	.	.	5.71	5.71	0.89125	.	0.119701	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7986	0.63186	0.0:0.0:0.7445:0.2555	.	.	.	.	X	411	.	ENSP00000280612:R411X	R	-	1	2	SLC7A11	139321280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.853000	0.62911	2.687000	0.91594	0.655000	0.94253	CGA		0.438	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			12	21	0	0	0	1	0	12	21					A	139101830	G	A	139101830	4	1	48	1	0	0	0	0	0	1	0	0	14709	1066	37	1	286	1	SLC7A11	4	139101830	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	10287282	139101830	52052446	1331	5799										
ELF2	1998	broad.mit.edu	37	chr4	139980462	139980462	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagccaatggggttccaacaAtgttaatgcttcctgatcca	8	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:139980462A>C	ENST00000394235.2	-	10	1923	c.1421T>G	c.(1420-1422)aTt>aGt	p.I474S	ELF2_ENST00000358635.3_Missense_Mutation_p.I426S|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000379549.2_Missense_Mutation_p.I397S|ELF2_ENST00000265495.4_Missense_Mutation_p.I474S|ELF2_ENST00000510408.1_Missense_Mutation_p.I414S|ELF2_ENST00000379550.1_Missense_Mutation_p.I486S	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)					GGTTCCAACAATGTTAATGCT	0.473																																						ENST00000394235.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19						c.(1420-1422)aTt>aGt		E74-like factor 2 (ets domain transcription factor)							86	78	80					4																	139980462		2203	4300	6503	SO:0001583	missense	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.chr4:139980462A>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.1421T>G	4.37:g.139980462A>C	ENSP00000377782:p.Ile474Ser		Somatic				ELF2_ENST00000379549.2_Missense_Mutation_p.I397S|ELF2_ENST00000265495.4_Missense_Mutation_p.I474S|ELF2_ENST00000358635.3_Missense_Mutation_p.I426S|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000510408.1_Missense_Mutation_p.I414S|ELF2_ENST00000379550.1_Missense_Mutation_p.I486S	p.I474S	NM_001276458.1	NP_001263387.1	WXS	Illumina GAIIx	Phase_I	Q15723	ELF2_HUMAN			10	1923	-	all_hematologic(180;0.162)		486						Missense_Mutation	SNP	ENST00000394235.2	37	c.1421T>G	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469358	0.26423	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000540754;ENST00000510408	T;T;T;T;T;T	0.12569	2.67;2.87;2.86;2.87;2.86;2.67	5.8	4.61	0.57282	.	0.155420	0.64402	D	0.000020	T	0.09335	0.0230	N	0.24115	0.695	0.40562	D	0.981229	B;B;B;B;B	0.27450	0.179;0.023;0.025;0.012;0.078	B;B;B;B;B	0.21708	0.036;0.022;0.008;0.015;0.022	T	0.21861	-1.0233	9	.	.	.	.	12.4373	0.55606	0.8743:0.0:0.0:0.1257	.	289;474;397;414;426	B7Z8R4;Q15723-1;E9PCX3;B7Z720;Q15723-3	.;.;.;.;.	S	426;474;486;474;397;289;414	ENSP00000351458:I426S;ENSP00000377782:I474S;ENSP00000368868:I486S;ENSP00000265495:I474S;ENSP00000368867:I397S;ENSP00000426997:I414S	.	I	-	2	0	ELF2	140199912	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.582000	0.74049	1.016000	0.39470	0.528000	0.53228	ATT		0.473	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		28	47	0	0	0	1	0	28	47					C	139980462	A	C	139980462	3	2	48	1	0	0	0	0	1	0	0	0	5056	101	4	4	328	4	ELF2	4	139980462	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	878632	139980462	51173814	1332	5800										
NAA15	80155	broad.mit.edu	37	chr4	140258010	140258010	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttgaaaatagaaaccttgGctatgaaaggattaacattg	8	4	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:140258010G>T	ENST00000296543.5	+	3	471	c.148G>T	c.(148-150)Gct>Tct	p.A50S	NAA15_ENST00000398947.1_Missense_Mutation_p.A50S	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	50					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						AGAAACCTTGGCTATGAAAGG	0.289																																						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.(148-150)Gct>Tct		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							114	103	106					4																	140258010		1877	4150	6027	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.chr4:140258010G>T	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.148G>T	4.37:g.140258010G>T	ENSP00000296543:p.Ala50Ser		Somatic				NAA15_ENST00000398947.1_Missense_Mutation_p.A50S	p.A50S	NM_057175.3	NP_476516.1	WXS	Illumina GAIIx	Phase_I	Q9BXJ9	NAA15_HUMAN			3	471	+			50					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.148G>T	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199671	0.79015	.	.	ENSG00000164134	ENST00000296543;ENST00000398947	T;T	0.50277	0.75;0.75	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	L	0.54323	1.7	0.80722	D	1	P	0.51449	0.945	P	0.49140	0.601	T	0.51220	-0.8733	10	0.34782	T	0.22	-7.4974	19.0663	0.93113	0.0:0.0:1.0:0.0	.	50	Q9BXJ9	NAA15_HUMAN	S	50	ENSP00000296543:A50S;ENSP00000381920:A50S	ENSP00000296543:A50S	A	+	1	0	NAA15	140477460	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	9.476000	0.97823	2.496000	0.84212	0.467000	0.42956	GCT		0.289	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		35	33	1	0	6.29468e-14	1	8.13866e-14	35	33					T	140258010	G	T	140258010	3	4	48	1	0	0	0	0	1	0	0	0	10127	1203	42	5	158	5	NAA15	4	140258010	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	277548	140258010	50896266	1333	5801										
NAA15	80155	broad.mit.edu	37	chr4	140262166	140262166	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgggataaagacaatcttcaAatcttaagggacctttcctt	7	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:140262166A>C	ENST00000296543.5	+	4	668	c.345A>C	c.(343-345)caA>caC	p.Q115H	NAA15_ENST00000398947.1_Missense_Mutation_p.Q115H|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	115					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						ACAATCTTCAAATCTTAAGGG	0.363																																						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.(343-345)caA>caC		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							98	91	93					4																	140262166		1831	4089	5920	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.chr4:140262166A>C	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.345A>C	4.37:g.140262166A>C	ENSP00000296543:p.Gln115His		Somatic				NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.Q115H	p.Q115H	NM_057175.3	NP_476516.1	WXS	Illumina GAIIx	Phase_I	Q9BXJ9	NAA15_HUMAN			4	668	+			115					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.345A>C	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.622206	0.46840	.	.	ENSG00000164134	ENST00000296543;ENST00000398947	T;T	0.54479	0.57;0.57	5.78	2.65	0.31530	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	M	0.84219	2.685	0.80722	D	1	B	0.25609	0.13	B	0.33042	0.157	T	0.58451	-0.7634	10	0.59425	D	0.04	-14.8982	8.9005	0.35493	0.7115:0.0:0.2885:0.0	.	115	Q9BXJ9	NAA15_HUMAN	H	115	ENSP00000296543:Q115H;ENSP00000381920:Q115H	ENSP00000296543:Q115H	Q	+	3	2	NAA15	140481616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.470000	0.35354	0.814000	0.34374	0.482000	0.46254	CAA		0.363	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		18	29	0	0	0	1	0	18	29					C	140262166	A	C	140262166	3	2	48	1	0	0	0	0	1	0	0	0	10127	11	1	4	359	4	NAA15	4	140262166	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	4156	140262166	50892110	1334	5802										
SCOC	60592	broad.mit.edu	37	chr4	141302251	141302251	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aactgacacaaaaagcaaaaGaaagtaagggattgacaccc	8	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:141302251G>T	ENST00000608372.1	+	4	500	c.473G>T	c.(472-474)aGa>aTa	p.R158I	SCOC_ENST00000502535.1_Missense_Mutation_p.R81I|SCOC_ENST00000510586.1_Missense_Mutation_p.R81I|SCOC_ENST00000394203.3_Missense_Mutation_p.R121I|SCOC_ENST00000394201.4_Missense_Mutation_p.R81I|SCOC_ENST00000512749.1_Missense_Mutation_p.R81I|SCOC_ENST00000338517.4_Missense_Mutation_p.R121I|SCOC_ENST00000506597.1_Missense_Mutation_p.R130I|SCOC_ENST00000506322.1_Missense_Mutation_p.R81I|SCOC_ENST00000394205.3_Missense_Mutation_p.R121I			Q9UIL1	SCOC_HUMAN	short coiled-coil protein	158					positive regulation of macroautophagy (GO:0016239)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					AAAAGCAAAAGAAAGTAAGGG	0.333																																						ENST00000394203.3																			0				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(361-363)aGa>aTa		short coiled-coil protein							39	39	39					4																	141302251		2202	4296	6498	SO:0001583	missense	0					Golgi apparatus|nucleus	protein binding	g.chr4:141302251G>T	AK027797	CCDS3750.1, CCDS54806.1, CCDS54807.1	4q28.3	2014-05-22	2003-03-19		ENSG00000153130	ENSG00000153130			20335	protein-coding gene	gene with protein product			"short coiled coil protein"			11303027	Standard	NM_032547		Approved	HRIHFB2072, SCOCO	uc011che.1	Q9UIL1	OTTHUMG00000133416	ENST00000608372.1:c.473G>T	4.37:g.141302251G>T	ENSP00000477352:p.Arg158Ile		Somatic				SCOC_ENST00000394205.3_Missense_Mutation_p.R121I|SCOC_ENST00000502535.1_Missense_Mutation_p.R81I|SCOC_ENST00000512749.1_Missense_Mutation_p.R81I|SCOC_ENST00000338517.4_Missense_Mutation_p.R121I|SCOC_ENST00000506597.1_Missense_Mutation_p.R130I|SCOC_ENST00000394201.3_Missense_Mutation_p.R158I|SCOC_ENST00000506322.1_Missense_Mutation_p.R81I	p.R121I	NM_001153585.1	NP_001147057.1	WXS	Illumina GAIIx	Phase_I	Q9UIL1	SCOC_HUMAN			4	540	+	all_hematologic(180;0.162)		158					B7WPH7|D3DNY7|E9PB65|Q6P5T9|Q7L2Y0|Q7Z4P2|Q96JY9|Q9BZB2	Missense_Mutation	SNP	ENST00000608372.1	37	c.362G>T	CCDS54806.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538345	0.85917	.	.	ENSG00000153130	ENST00000394205;ENST00000338517;ENST00000394203;ENST00000506322;ENST00000512749;ENST00000394201;ENST00000506597;ENST00000502535	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.66519	0.2797	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.91635	0.997;0.999;0.999;0.974;0.974	T	0.70995	-0.4720	9	0.87932	D	0	-19.2779	19.2724	0.94016	0.0:0.0:1.0:0.0	.	53;130;158;120;121	Q9UIL1-4;E9PB65;Q9UIL1;Q9UIL1-3;Q9UIL1-2	.;.;SCOC_HUMAN;.;.	I	121;121;121;81;81;158;130;81	.	ENSP00000345262:R121I	R	+	2	0	SCOC	141521701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.741000	0.98843	2.637000	0.89404	0.585000	0.79938	AGA		0.333	SCOC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257274.2			5	20	1	0	0.217242	1	0.218251	5	20					T	141302251	G	T	141302251	3	4	48	1	0	0	0	0	1	0	0	0	13948	942	33	2	561	2	SCOC	4	141302251	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1040085	141302251	49852025	1335	5803										
RNF150	57484	broad.mit.edu	37	chr4	141789419	141789419	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctggatttgtcgtttcaaGatttcacttcttcacagtcc	6	10	5	1	rs139463111		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:141789419G>T	ENST00000515673.2	-	7	1346	c.1313C>A	c.(1312-1314)tCt>tAt	p.S438Y	RNF150_ENST00000379512.2_Missense_Mutation_p.S297Y|RNF150_ENST00000306799.3_Missense_Mutation_p.S396Y|RNF150_ENST00000420921.2_Missense_Mutation_p.S297Y			Q9ULK6	RN150_HUMAN	ring finger protein 150	438						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GTCGTTTCAAGATTTCACTTC	0.468																																						ENST00000306799.3																			0				breast(1)|large_intestine(10)|lung(7)|ovary(1)	19						c.(1186-1188)tCt>tAt		ring finger protein 150		G	TYR/SER	0,4406		0,0,2203	190	151	164		1313	5.7	1	4	dbSNP_134	164	1,8599	1.2+/-3.3	0,1,4299	no	missense	RNF150	NM_020724.1	144	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	438/439	141789419	1,13005	2203	4300	6503	SO:0001583	missense	57484					integral to membrane	zinc ion binding	g.chr4:141789419G>T	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"RING-type (C3HC4) zinc fingers"	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.1313C>A	4.37:g.141789419G>T	ENSP00000425840:p.Ser438Tyr		Somatic				RNF150_ENST00000420921.2_Missense_Mutation_p.S297Y|RNF150_ENST00000379512.2_Missense_Mutation_p.S297Y|RNF150_ENST00000515673.1_Missense_Mutation_p.S438Y	p.S396Y	NM_020724.1	NP_065775.1	WXS	Illumina GAIIx	Phase_I	Q9ULK6	RN150_HUMAN			7	1840	-	all_hematologic(180;0.162)		438					Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	c.1187C>A	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428877	0.83667	0.0	1.16E-4	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000306799;ENST00000515673	T;T;T;T	0.19806	2.12;2.12;2.22;3.17	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000002	T	0.29288	0.0729	N	0.08118	0	0.43896	D	0.996526	D;D	0.76494	0.999;0.998	D;P	0.67725	0.953;0.898	T	0.36163	-0.9759	10	0.87932	D	0	.	20.2786	0.98501	0.0:0.0:1.0:0.0	.	396;438	Q9ULK6-2;Q9ULK6	.;RN150_HUMAN	Y	297;297;396;438	ENSP00000368827:S297Y;ENSP00000394581:S297Y;ENSP00000304321:S396Y;ENSP00000425840:S438Y	ENSP00000304321:S396Y	S	-	2	0	RNF150	142008869	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	7.330000	0.79181	2.868000	0.98415	0.557000	0.71058	TCT		0.468	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		17	34	1	0	2.94398e-08	1	3.45884e-08	17	34					T	141789419	G	T	141789419	3	4	48	1	0	0	0	0	1	0	0	0	13466	942	33	2	7	2	RNF150	4	141789419	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	487168	141789419	49364857	1336	5804										
INPP4B	8821	broad.mit.edu	37	chr4	143159024	143159024	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattttctcttacctgcacaAatcttctttaatgtgaaggg	6	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:143159024A>C	ENST00000513000.1	-	13	1262	c.829T>G	c.(829-831)Ttg>Gtg	p.L277V	INPP4B_ENST00000262992.4_Missense_Mutation_p.L277V|INPP4B_ENST00000308502.4_Missense_Mutation_p.L277V|INPP4B_ENST00000509777.1_Missense_Mutation_p.L277V|INPP4B_ENST00000508116.1_Missense_Mutation_p.L277V	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	277					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TACCTGCACAAATCTTCTTTA	0.284																																						ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(829-831)Ttg>Gtg		inositol polyphosphate-4-phosphatase, type II, 105kDa							36	36	36					4																	143159024		2202	4297	6499	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143159024A>C	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.829T>G	4.37:g.143159024A>C	ENSP00000425487:p.Leu277Val		Somatic				INPP4B_ENST00000308502.4_Missense_Mutation_p.L277V|INPP4B_ENST00000509777.1_Missense_Mutation_p.L277V|INPP4B_ENST00000262992.4_Missense_Mutation_p.L277V|INPP4B_ENST00000508116.1_Missense_Mutation_p.L277V	p.L277V	NM_003866.2	NP_003857.2	WXS	Illumina GAIIx	Phase_I	O15327	INP4B_HUMAN			13	1262	-	all_hematologic(180;0.158)		277					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.829T>G	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	A	4.055	0.007918	0.07866	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.49	2.89	0.33648	.	0.421745	0.22603	N	0.057926	T	0.19886	0.0478	L	0.34521	1.04	0.24982	N	0.991599	B;P	0.35401	0.4;0.499	B;B	0.36464	0.225;0.167	T	0.11179	-1.0598	10	0.30078	T	0.28	.	4.6459	0.12572	0.6239:0.0:0.1558:0.2203	.	148;277	B7Z6T2;O15327	.;INP4B_HUMAN	V	277;277;277;148;277;277;92;92;277;148	ENSP00000425487:L277V;ENSP00000262992:L277V;ENSP00000308441:L277V;ENSP00000423954:L277V;ENSP00000422793:L277V;ENSP00000426207:L92V;ENSP00000427250:L277V;ENSP00000421065:L148V	ENSP00000262992:L277V	L	-	1	2	INPP4B	143378474	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.446000	0.52928	0.393000	0.25203	0.533000	0.62120	TTG		0.284	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		12	15	0	0	0	1	0	12	15					C	143159024	A	C	143159024	3	2	48	1	0	0	0	0	1	0	0	0	7762	11	1	4	2005	4	INPP4B	4	143159024	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1369605	143159024	47995252	1337	5805										
GAB1	2549	broad.mit.edu	37	chr4	144381598	144381598	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gactcacacgacagtgaagaGaattatgttcccatgaaccc	8	11	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:144381598G>T	ENST00000262994.4	+	8	2063	c.1761G>T	c.(1759-1761)gaG>gaT	p.E587D	GAB1_ENST00000505913.1_Missense_Mutation_p.E484D|GAB1_ENST00000262995.4_Missense_Mutation_p.E617D	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	587					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					ACAGTGAAGAGAATTATGTTC	0.438																																						ENST00000262995.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1849-1851)gaG>gaT		GRB2-associated binding protein 1							161	157	158					4																	144381598		2203	4300	6503	SO:0001583	missense	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144381598G>T	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"Pleckstrin homology (PH) domain containing"	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1761G>T	4.37:g.144381598G>T	ENSP00000262994:p.Glu587Asp		Somatic				GAB1_ENST00000505913.1_Missense_Mutation_p.E484D|GAB1_ENST00000262994.4_Missense_Mutation_p.E587D	p.E617D	NM_207123.2	NP_997006.1	WXS	Illumina GAIIx	Phase_I	Q13480	GAB1_HUMAN			9	2278	+	all_hematologic(180;0.158)		587					A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	c.1851G>T	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134277	0.77662	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.14893	2.47;2.47;2.47	5.57	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	L	0.58302	1.8	0.49213	D	0.999766	D;D	0.76494	0.997;0.999	D;D	0.79784	0.978;0.993	T	0.01648	-1.1304	10	0.39692	T	0.17	-9.3638	8.5373	0.33371	0.2914:0.0:0.7086:0.0	.	587;617	Q13480;Q13480-2	GAB1_HUMAN;.	D	617;587;484	ENSP00000262995:E617D;ENSP00000262994:E587D;ENSP00000424554:E484D	ENSP00000262994:E587D	E	+	3	2	GAB1	144601048	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.261000	0.51530	0.712000	0.32039	0.591000	0.81541	GAG		0.438	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		25	136	1	0	7.07758e-08	1	8.2413e-08	25	136					T	144381598	G	T	144381598	3	4	48	1	0	0	0	0	1	0	0	0	6156	933	33	2	1885	2	GAB1	4	144381598	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1222574	144381598	46772678	1338	5806										
OTUD4	54726	broad.mit.edu	37	chr4	146058848	146058848	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatattagacacttcattttCatcttctgaactctcttctt	2	10	6	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:146058848C>A	ENST00000447906.2	-	21	3266	c.3079G>T	c.(3079-3081)Gaa>Taa	p.E1027*	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Nonsense_Mutation_p.E962*			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1027					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)					ACTTCATTTTCATCTTCTGAA	0.408																																						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.(2884-2886)Gaa>Taa		OTU domain containing 4							158	163	161					4																	146058848		2203	4300	6503	SO:0001587	stop_gained	54726						protein binding	g.chr4:146058848C>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.3079G>T	4.37:g.146058848C>A	ENSP00000395487:p.Glu1027*		Somatic				OTUD4_ENST00000447906.2_Nonsense_Mutation_p.E1027*|OTUD4_ENST00000455611.2_Intron	p.E962*	NM_001102653.1	NP_001096123.1	WXS	Illumina GAIIx	Phase_I	Q01804	OTUD4_HUMAN			21	3021	-	all_hematologic(180;0.151)		1026					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Nonsense_Mutation	SNP	ENST00000447906.2	37	c.2884G>T		.	.	.	.	.	.	.	.	.	.	C	39	7.648764	0.98409	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.4379	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	962;1027	.	ENSP00000395487:E1027X	E	-	1	0	OTUD4	146278298	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.296000	0.65698	2.941000	0.99782	0.655000	0.94253	GAA		0.408	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		55	112	1	0	1.0331e-37	1	1.4876e-37	55	112					A	146058848	C	A	146058848	4	1	48	1	0	0	0	0	0	1	0	0	11323	835	29	2	269	2	OTUD4	4	146058848	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1677250	146058848	45095428	1339	5807										
TTC29	83894	broad.mit.edu	37	chr4	147830222	147830222	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggtcaggtaatggtacaggTaatccagtttatcaggctgc	12	7	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:147830222T>G	ENST00000325106.4	-	5	582	c.356A>C	c.(355-357)tAc>tCc	p.Y119S	TTC29_ENST00000398886.4_Missense_Mutation_p.Y145S|TTC29_ENST00000513335.1_Missense_Mutation_p.Y145S	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	119										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)					ATGGTACAGGTAATCCAGTTT	0.597																																						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.(433-435)tAc>tCc		tetratricopeptide repeat domain 29							108	110	109					4																	147830222		1955	4144	6099	SO:0001583	missense	83894						binding	g.chr4:147830222T>G	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.356A>C	4.37:g.147830222T>G	ENSP00000316740:p.Tyr119Ser		Somatic				TTC29_ENST00000325106.4_Missense_Mutation_p.Y119S|TTC29_ENST00000398886.4_Missense_Mutation_p.Y145S	p.Y145S			WXS	Illumina GAIIx	Phase_I	Q8NA56	TTC29_HUMAN			6	633	-	all_hematologic(180;0.151)		119					A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	c.434A>C	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.367844	0.24771	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.03	2.48	0.30137	.	0.540033	0.19124	N	0.122120	T	0.08447	0.0210	N	0.14661	0.345	0.24765	N	0.992902	B;B;B	0.22983	0.078;0.002;0.078	B;B;B	0.18263	0.021;0.006;0.021	T	0.35251	-0.9796	10	0.22706	T	0.39	-1.6857	7.107	0.25368	0.1311:0.0722:0.0:0.7967	.	119;145;119	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	S	145;145;119;119;119	ENSP00000423505:Y145S;ENSP00000381861:Y145S;ENSP00000316740:Y119S;ENSP00000425778:Y119S	ENSP00000316740:Y119S	Y	-	2	0	TTC29	148049672	1.000000	0.71417	0.178000	0.23040	0.644000	0.38419	2.369000	0.44231	0.307000	0.22880	0.533000	0.62120	TAC		0.597	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		13	79	0	0	0	1	0	13	79					G	147830222	T	G	147830222	3	3	48	1	0	0	0	0	1	0	0	0	16711	1638	57	4	1107	4	TTC29	4	147830222	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1771374	147830222	43324054	1340	5808										
ARHGAP10	79658	broad.mit.edu	37	chr4	148796274	148796274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagcaagtcagtttacagccGaaggctacctgtatgtccag	11	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:148796274G>A	ENST00000336498.3	+	8	1044	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GTTTACAGCCGAAGGCTACCT	0.453																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(805-807)Gaa>Aaa		Rho GTPase activating protein 10							82	79	80					4																	148796274		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148796274G>A	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.805G>A	4.37:g.148796274G>A	ENSP00000336923:p.Glu269Lys		Somatic					p.E269K	NM_024605.3	NP_078881.3	WXS	Illumina GAIIx	Phase_I	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	8	1044	+	all_hematologic(180;0.151)	Renal(17;0.0166)	269			PH.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.805G>A	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948730	0.73787	.	.	ENSG00000071205	ENST00000336498	T	0.06528	3.29	4.85	4.85	0.62838	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.053671	0.64402	D	0.000001	T	0.20455	0.0492	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	P	0.53450	0.726	T	0.01561	-1.1324	10	0.87932	D	0	.	17.9666	0.89101	0.0:0.0:1.0:0.0	.	269	A1A4S6	RHG10_HUMAN	K	269	ENSP00000336923:E269K	ENSP00000336923:E269K	E	+	1	0	ARHGAP10	149015724	1.000000	0.71417	0.944000	0.38274	0.002000	0.02628	8.976000	0.93442	2.377000	0.81083	0.650000	0.86243	GAA		0.453	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		5	57	0	0	0	1	0	5	57					A	148796274	G	A	148796274	3	1	48	1	0	0	0	0	1	0	0	0	862	1059	37	1	835	1	ARHGAP10	4	148796274	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	966052	148796274	42358002	1341	5809										
NR3C2	4306	broad.mit.edu	37	chr4	149181258	149181258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagatccagtagaaacacttCgtaaagtagagctggggaaa	11	6	0	3	rs552665133		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:149181258C>T	ENST00000358102.3	-	3	2131	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q	NR3C2_ENST00000355292.3_Missense_Mutation_p.R590Q|NR3C2_ENST00000512865.1_Missense_Mutation_p.R590Q|NR3C2_ENST00000511528.1_Missense_Mutation_p.R590Q|NR3C2_ENST00000344721.4_Missense_Mutation_p.R590Q	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	590	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R590Q(1)		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)	AGAAACACTTCGTAAAGTAGA	0.413																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			1	Substitution - Missense(1)	p.R590Q(1)	large_intestine(1)	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.(1768-1770)cGa>cAa		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						89	86	87					4																	149181258		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149181258C>T	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1769G>A	4.37:g.149181258C>T	ENSP00000350815:p.Arg590Gln		Somatic				NR3C2_ENST00000358102.3_Missense_Mutation_p.R590Q|NR3C2_ENST00000511528.1_Missense_Mutation_p.R590Q|NR3C2_ENST00000512865.1_Missense_Mutation_p.R590Q|NR3C2_ENST00000344721.4_Missense_Mutation_p.R590Q|NR3C2_ENST00000342437.4_Missense_Mutation_p.R590Q	p.R590Q			WXS	Illumina GAIIx	Phase_I	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	3	2131	-	all_hematologic(180;0.151)		590			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.1769G>A	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719847	0.68844	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.89939	-2.58;-2.59;-2.58;-2.19;-2.19;-2.59	5.98	5.98	0.97165	.	0.065195	0.64402	D	0.000005	D	0.89955	0.6865	L	0.27053	0.805	0.43242	D	0.995153	D;D	0.89917	1.0;0.998	P;P	0.59546	0.859;0.831	D	0.87978	0.2741	9	.	.	.	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	590;590	B0ZBF5;B0ZBF6	.;.	Q	590	ENSP00000341390:R590Q;ENSP00000347441:R590Q;ENSP00000350815:R590Q;ENSP00000423510:R590Q;ENSP00000343907:R590Q;ENSP00000421481:R590Q	.	R	-	2	0	NR3C2	149400708	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.046000	0.64226	2.838000	0.97847	0.591000	0.81541	CGA		0.413	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			12	31	0	0	0	1	0	12	31					T	149181258	C	T	149181258	3	4	48	1	0	0	0	0	1	0	0	0	10640	884	31	1	1213	1	NR3C2	4	149181258	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	384984	149181258	41973018	1342	5810										
DCLK2	166614	broad.mit.edu	37	chr4	151023816	151023816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caagttagtgactgtgattcGaagtggagtgaagcctagaa	13	5	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:151023816G>A	ENST00000296550.7	+	2	1362	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	DCLK2_ENST00000302176.8_Missense_Mutation_p.R203Q|DCLK2_ENST00000506325.1_Missense_Mutation_p.R203Q	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	203	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ACTGTGATTCGAAGTGGAGTG	0.438																																					GBM(195;186 2215 13375 16801 37459)	ENST00000296550.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.(607-609)cGa>cAa		doublecortin-like kinase 2							75	77	76					4																	151023816		2203	4300	6503	SO:0001583	missense	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151023816G>A	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.608G>A	4.37:g.151023816G>A	ENSP00000296550:p.Arg203Gln		Somatic				DCLK2_ENST00000506325.1_Missense_Mutation_p.R203Q|DCLK2_ENST00000302176.8_Missense_Mutation_p.R203Q	p.R203Q	NM_001040260.3	NP_001035350.2	WXS	Illumina GAIIx	Phase_I	Q8N568	DCLK2_HUMAN			2	1362	+	all_hematologic(180;0.151)		203			Doublecortin 2.		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	c.608G>A	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001572	0.93227	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	D;D;D	0.94687	-3.49;-3.49;-3.49	5.49	4.64	0.57946	Doublecortin domain (4);	0.000000	0.85682	D	0.000000	D	0.96892	0.8985	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.973;0.999;0.914	D	0.97166	0.9841	10	0.87932	D	0	.	14.6743	0.68967	0.0711:0.0:0.9289:0.0	.	203;203;203	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	Q	203	ENSP00000296550:R203Q;ENSP00000427235:R203Q;ENSP00000303887:R203Q	ENSP00000296550:R203Q	R	+	2	0	DCLK2	151243266	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.771000	0.98977	2.590000	0.87494	0.557000	0.71058	CGA		0.438	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		7	50	0	0	0	1	0	7	50					A	151023816	G	A	151023816	3	1	48	1	0	0	0	0	1	0	0	0	4294	1058	37	1	614	1	DCLK2	4	151023816	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1842558	151023816	40130460	1343	5811										
LRBA	987	broad.mit.edu	37	chr4	151765812	151765812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attaatctgtatacttacctTcgctgcagatttccctaaag	5	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:151765812T>C	ENST00000357115.3	-	27	4702	c.4459A>G	c.(4459-4461)Aag>Gag	p.K1487E	LRBA_ENST00000507224.1_Missense_Mutation_p.K1487E|LRBA_ENST00000535741.1_Missense_Mutation_p.K1487E|LRBA_ENST00000510413.1_Missense_Mutation_p.K1487E	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1487						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)					ATACTTACCTTCGCTGCAGAT	0.323																																						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.(4459-4461)Aag>Gag		LPS-responsive vesicle trafficking, beach and anchor containing							104	96	98					4																	151765812		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151765812T>C	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.4459A>G	4.37:g.151765812T>C	ENSP00000349629:p.Lys1487Glu		Somatic				LRBA_ENST00000510413.1_Missense_Mutation_p.K1487E|LRBA_ENST00000507224.1_Missense_Mutation_p.K1487E|LRBA_ENST00000357115.3_Missense_Mutation_p.K1487E	p.K1487E			WXS	Illumina GAIIx	Phase_I	P50851	LRBA_HUMAN			27	4932	-	all_hematologic(180;0.151)		1487					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.4459A>G	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.599466	0.66332	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224;ENST00000502839	T;T;T;T	0.58940	0.72;0.87;0.72;0.3	5.19	5.19	0.71726	.	0.428104	0.25628	N	0.029363	T	0.68997	0.3062	L	0.46741	1.465	0.45205	D	0.998218	D;B	0.69078	0.997;0.225	D;B	0.73380	0.98;0.078	T	0.67612	-0.5626	10	0.37606	T	0.19	.	15.3587	0.74453	0.0:0.0:0.0:1.0	.	1487;1487	P50851;P50851-2	LRBA_HUMAN;.	E	1487;1487;1487;1487;64	ENSP00000446299:K1487E;ENSP00000421552:K1487E;ENSP00000349629:K1487E;ENSP00000422180:K1487E	ENSP00000349629:K1487E	K	-	1	0	LRBA	151985262	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.601000	0.61090	2.089000	0.63090	0.528000	0.53228	AAG		0.323	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			15	21	0	0	0	1	0	15	21					C	151765812	T	C	151765812	3	2	48	1	0	0	0	0	1	0	0	0	8940	1792	62	4	4260	4	LRBA	4	151765812	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	741996	151765812	39388464	1344	5812										
LRBA	987	broad.mit.edu	37	chr4	151774084	151774084	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaaggttttctttgtgtatTtcaaaagtgacctaggtgaa	10	5	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:151774084T>G	ENST00000357115.3	-	23	3021	c.2778A>C	c.(2776-2778)gaA>gaC	p.E926D	LRBA_ENST00000507224.1_Missense_Mutation_p.E926D|LRBA_ENST00000535741.1_Missense_Mutation_p.E926D|LRBA_ENST00000510413.1_Missense_Mutation_p.E926D	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	926						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)					CTTTGTGTATTTCAAAAGTGA	0.313																																						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.(2776-2778)gaA>gaC		LPS-responsive vesicle trafficking, beach and anchor containing							85	84	85					4																	151774084		2203	4299	6502	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151774084T>G	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.2778A>C	4.37:g.151774084T>G	ENSP00000349629:p.Glu926Asp		Somatic				LRBA_ENST00000510413.1_Missense_Mutation_p.E926D|LRBA_ENST00000507224.1_Missense_Mutation_p.E926D|LRBA_ENST00000357115.3_Missense_Mutation_p.E926D	p.E926D			WXS	Illumina GAIIx	Phase_I	P50851	LRBA_HUMAN			23	3251	-	all_hematologic(180;0.151)		926					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.2778A>C	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.023477	0.75390	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79633	0.4479	M	0.78049	2.395	0.53688	D	0.999977	D;D	0.71674	0.996;0.998	D;D	0.77557	0.989;0.99	T	0.81820	-0.0757	10	0.62326	D	0.03	.	16.1611	0.81712	0.0:0.0:0.0:1.0	.	926;926	P50851;P50851-2	LRBA_HUMAN;.	D	926	ENSP00000446299:E926D;ENSP00000421552:E926D;ENSP00000349629:E926D;ENSP00000422180:E926D	ENSP00000349629:E926D	E	-	3	2	LRBA	151993534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.281000	0.58965	2.272000	0.75746	0.460000	0.39030	GAA		0.313	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			8	11	0	0	0	1	0	8	11					G	151774084	T	G	151774084	3	3	48	1	0	0	0	0	1	0	0	0	8940	1838	64	4	5957	4	LRBA	4	151774084	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	8272	151774084	39380192	1345	5813										
LRBA	987	broad.mit.edu	37	chr4	151821337	151821337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgactgtaccaatgaattcCgtggacagataagtatagag	10	6	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:151821337C>T	ENST00000357115.3	-	14	2031	c.1788G>A	c.(1786-1788)acG>acA	p.T596T	LRBA_ENST00000507224.1_Silent_p.T596T|LRBA_ENST00000535741.1_Silent_p.T596T|LRBA_ENST00000510413.1_Silent_p.T596T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	596						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)					CAATGAATTCCGTGGACAGAT	0.408																																						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.(1786-1788)acG>acA		LPS-responsive vesicle trafficking, beach and anchor containing							115	107	110					4																	151821337		2203	4300	6503	SO:0001819	synonymous_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151821337C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1788G>A	4.37:g.151821337C>T			Somatic				LRBA_ENST00000510413.1_Silent_p.T596T|LRBA_ENST00000507224.1_Silent_p.T596T|LRBA_ENST00000357115.3_Silent_p.T596T	p.T596T			WXS	Illumina GAIIx	Phase_I	P50851	LRBA_HUMAN			14	2261	-	all_hematologic(180;0.151)		596					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	c.1788G>A	CCDS3773.1																																																																																				0.408	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			14	27	0	0	0	1	0	14	27					T	151821337	C	T	151821337	2	4	48	1	0	0	0	0	0	0	0	1	8940	639	23	1		1	LRBA	4	151821337	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	47253	151821337	39332939	1346	5814										
FBXW7	55294	broad.mit.edu	37	chr4	153244185	153244185	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctccaatgtgactaggtttcGaataaattcacccgttttca	6	10	2	1	rs144247898		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:153244185G>A	ENST00000281708.4	-	12	3201	c.1972C>T	c.(1972-1974)Cga>Tga	p.R658*	RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R482*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R540*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R578*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	658					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R658*(3)|p.R578*(1)|p.?(1)|p.R419*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTAGGTTTCGAATAAATTCA	0.473			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		6	Substitution - Nonsense(5)|Unknown(1)	p.R658*(3)|p.R578*(1)|p.?(1)|p.R419*(1)	large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1972-1974)Cga>Tga		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							167	164	165					4																	153244185		2203	4300	6503	SO:0001587	stop_gained	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153244185G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1972C>T	4.37:g.153244185G>A	ENSP00000281708:p.Arg658*		Somatic				FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R540*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R482*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R578*	p.R658*	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			12	3201	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	658					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.1972C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698056	0.88830	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.67	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7715	15.907	0.79439	0.0:0.0:0.8635:0.1365	.	.	.	.	X	658;540;578;482	.	ENSP00000263981:R578X	R	-	1	2	FBXW7	153463635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.632000	0.74281	1.377000	0.46286	0.655000	0.94253	CGA		0.473	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			54	88	0	0	0	1	0	54	88					A	153244185	G	A	153244185	4	1	48	1	0	0	0	0	0	1	0	0	5777	1066	37	1	155	1	FBXW7	4	153244185	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1422848	153244185	37910091	1347	5815										
FBXW7	55294	broad.mit.edu	37	chr4	153268137	153268137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtggctggacagatgtaattCggcgtcgttgttgcccttgg	15	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:153268137C>T	ENST00000281708.4	-	4	1900	c.671G>A	c.(670-672)cGa>cAa	p.R224Q	FBXW7_ENST00000603548.1_Missense_Mutation_p.R224Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R48Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R224Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R106Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R144Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	224					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGATGTAATTCGGCGTCGTTG	0.448			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(670-672)cGa>cAa		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							194	178	184					4																	153268137		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153268137C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.671G>A	4.37:g.153268137C>T	ENSP00000281708:p.Arg224Gln		Somatic				FBXW7_ENST00000296555.5_Missense_Mutation_p.R106Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R48Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R224Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R224Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R144Q	p.R224Q	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			4	1900	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	224					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.671G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861131	0.71949	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.55413	0.56;0.61;0.52;0.69	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.57784	0.2077	N	0.19112	0.55	0.80722	D	1	D;D;P;D	0.69078	0.983;0.994;0.648;0.997	P;P;B;D	0.66847	0.885;0.885;0.073;0.947	T	0.49781	-0.8903	10	0.15499	T	0.54	-13.0477	20.1162	0.97934	0.0:1.0:0.0:0.0	.	48;224;106;144	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	224;106;144;48	ENSP00000281708:R224Q;ENSP00000296555:R106Q;ENSP00000263981:R144Q;ENSP00000377528:R48Q	ENSP00000263981:R144Q	R	-	2	0	FBXW7	153487587	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.487000	0.81328	2.757000	0.94681	0.563000	0.77884	CGA		0.448	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			5	98	0	0	0	1	0	5	98					T	153268137	C	T	153268137	3	4	48	1	0	0	0	0	1	0	0	0	5777	884	31	1	1488	1	FBXW7	4	153268137	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	23952	153268137	37886139	1348	5816										
MND1	84057	broad.mit.edu	37	chr4	154271250	154271250	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgagtgcagaagaaaagaGaactcgcatgatggaaatat	11	5	0	5	rs557910209		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:154271250G>T	ENST00000240488.3	+	2	127	c.38G>T	c.(37-39)aGa>aTa	p.R13I	MND1_ENST00000504860.1_5'UTR|MND1_ENST00000503967.1_3'UTR	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1			meiotic nuclear divisions 1 homolog (S. cerevisiae)											large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					GAAGAAAAGAGAACTCGCATG	0.279																																						ENST00000240488.3																			0				large_intestine(2)|lung(1)	3						c.(37-39)aGa>aTa		meiotic nuclear divisions 1 homolog (S. cerevisiae)							73	79	77					4																	154271250		2203	4300	6503	SO:0001583	missense	84057				DNA recombination|meiosis	nucleus	DNA binding	g.chr4:154271250G>T	AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000240488.3:c.38G>T	4.37:g.154271250G>T	ENSP00000240488:p.Arg13Ile		Somatic				MND1_ENST00000504860.1_5'UTR|MND1_ENST00000503967.1_3'UTR	p.R13I	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	WXS	Illumina GAIIx	Phase_I	Q9BWT6	MND1_HUMAN			2	127	+	all_hematologic(180;0.093)		13						Missense_Mutation	SNP	ENST00000240488.3	37	c.38G>T	CCDS3782.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092878	0.94149	.	.	ENSG00000121211	ENST00000240488	.	.	.	5.6	5.6	0.85130	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.85695	0.5756	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87750	0.2591	9	0.62326	D	0.03	-34.7401	19.2161	0.93778	0.0:0.0:1.0:0.0	.	13	Q9BWT6	MND1_HUMAN	I	13	.	ENSP00000240488:R13I	R	+	2	0	MND1	154490700	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	8.946000	0.92992	2.627000	0.88993	0.655000	0.94253	AGA		0.279	MND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365194.2	NM_032117		10	39	1	0	4.68919e-08	1	5.48405e-08	10	39					T	154271250	G	T	154271250	3	4	48	1	0	0	0	0	1	0	0	0	9684	942	33	2	44	2	MND1	4	154271250	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1003113	154271250	36883026	1349	5817										
TLR2	7097	broad.mit.edu	37	chr4	154625574	154625574	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccatgttactagtattgaaAatcagtaggaatgcaataac	7	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:154625574A>C	ENST00000260010.6	+	1	2923	c.1515A>C	c.(1513-1515)aaA>aaC	p.K505N		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	505					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TAGTATTGAAAATCAGTAGGA	0.378																																						ENST00000260010.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(1513-1515)aaA>aaC		toll-like receptor 2							68	72	70					4																	154625574		2202	4300	6502	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154625574A>C	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1515A>C	4.37:g.154625574A>C	ENSP00000260010:p.Lys505Asn		Somatic					p.K505N	NM_003264.3	NP_003255.2	WXS	Illumina GAIIx	Phase_I	O60603	TLR2_HUMAN			1	2923	+	all_hematologic(180;0.093)	Renal(120;0.117)	505					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.1515A>C	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	A	0.039	-1.290762	0.01375	.	.	ENSG00000137462	ENST00000260010	T	0.54479	0.57	5.21	-8.77	0.00827	.	0.954247	0.08757	N	0.898210	T	0.15782	0.0380	N	0.02368	-0.58	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.14868	-1.0457	10	0.18276	T	0.48	.	1.6698	0.02809	0.1389:0.2234:0.3238:0.314	.	505	O60603	TLR2_HUMAN	N	505	ENSP00000260010:K505N	ENSP00000260010:K505N	K	+	3	2	TLR2	154845024	0.000000	0.05858	0.026000	0.17262	0.005000	0.04900	-1.228000	0.02948	-1.047000	0.03242	-1.304000	0.01323	AAA		0.378	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			26	38	0	0	0	1	0	26	38					C	154625574	A	C	154625574	3	2	48	1	0	0	0	0	1	0	0	0	15966	11	1	4	1517	4	TLR2	4	154625574	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	354324	154625574	36528702	1350	5818										
DCHS2	54798	broad.mit.edu	37	chr4	155156193	155156193	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatcacctgaaataaagacaGactcttttctaacgtcagcc	6	11	4	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155156193G>T	ENST00000357232.4	-	25	8245	c.8246C>A	c.(8245-8247)tCt>tAt	p.S2749Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2749					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)		AATAAAGACAGACTCTTTTCT	0.443																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(8245-8247)tCt>tAt		dachsous cadherin-related 2							80	69	73					4																	155156193		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156193G>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.8246C>A	4.37:g.155156193G>T	ENSP00000349768:p.Ser2749Tyr		Somatic					p.S2749Y	NM_017639.3	NP_060109.2	WXS	Illumina GAIIx	Phase_I	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	8245	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2749					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.8246C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	7.119	0.577615	0.13686	.	.	ENSG00000197410	ENST00000357232	T	0.52057	0.68	5.53	1.52	0.23074	.	1.019890	0.07799	N	0.956175	T	0.19046	0.0457	N	0.02539	-0.55	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.19192	-1.0313	10	0.27785	T	0.31	.	1.5802	0.02633	0.19:0.0953:0.2956:0.4191	.	2749	Q6V1P9	PCD23_HUMAN	Y	2749	ENSP00000349768:S2749Y	ENSP00000349768:S2749Y	S	-	2	0	DCHS2	155375643	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.994000	0.29693	0.263000	0.21812	-0.262000	0.10625	TCT		0.443	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		18	30	1	0	1.99824e-07	1	2.29918e-07	18	30					T	155156193	G	T	155156193	3	4	48	1	0	0	0	0	1	0	0	0	4290	942	33	2	508	2	DCHS2	4	155156193	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	530619	155156193	35998083	1351	5819										
DCHS2	54798	broad.mit.edu	37	chr4	155180752	155180752	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acactgatgcctggtaaatgCtttgttcaaagcatggtgaa	10	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155180752C>A	ENST00000357232.4	-	20	5368	c.5369G>T	c.(5368-5370)aGc>aTc	p.S1790I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1790	Cadherin 16. {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)		CTGGTAAATGCTTTGTTCAAA	0.408																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(5368-5370)aGc>aTc		dachsous cadherin-related 2							213	191	198					4																	155180752		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155180752C>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.5369G>T	4.37:g.155180752C>A	ENSP00000349768:p.Ser1790Ile		Somatic					p.S1790I	NM_017639.3	NP_060109.2	WXS	Illumina GAIIx	Phase_I	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	20	5368	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1790			Cadherin 16.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.5369G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509050	0.27036	.	.	ENSG00000197410	ENST00000357232	T	0.61980	0.06	5.52	2.84	0.33178	Cadherin (2);Cadherin-like (1);	0.730502	0.13786	N	0.362894	T	0.67674	0.2918	M	0.81112	2.525	0.23221	N	0.99809	D	0.57899	0.981	P	0.54140	0.743	T	0.58075	-0.7700	10	0.40728	T	0.16	.	2.0313	0.03529	0.1395:0.4986:0.1353:0.2266	.	1790	Q6V1P9	PCD23_HUMAN	I	1790	ENSP00000349768:S1790I	ENSP00000349768:S1790I	S	-	2	0	DCHS2	155400202	0.066000	0.20996	0.006000	0.13384	0.008000	0.06430	0.341000	0.19909	0.367000	0.24454	0.655000	0.94253	AGC		0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		33	56	1	0	4.74835e-14	1	6.14782e-14	33	56					A	155180752	C	A	155180752	3	1	48	1	0	0	0	0	1	0	0	0	4290	797	28	5	3405	5	DCHS2	4	155180752	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	24559	155180752	35973524	1352	5820										
DCHS2	54798	broad.mit.edu	37	chr4	155253722	155253722	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtccatgtcaatagctgtaAttttgcctattaccccttgg	7	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155253722A>C	ENST00000357232.4	-	9	2140	c.2141T>G	c.(2140-2142)aTt>aGt	p.I714S	DCHS2_ENST00000339452.1_Missense_Mutation_p.I1213S|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	714	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)		AATAGCTGTAATTTTGCCTAT	0.413																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(2140-2142)aTt>aGt		dachsous cadherin-related 2							131	139	137					4																	155253722		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155253722A>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2141T>G	4.37:g.155253722A>C	ENSP00000349768:p.Ile714Ser		Somatic				DCHS2_ENST00000339452.1_Missense_Mutation_p.I1213S	p.I714S	NM_017639.3	NP_060109.2	WXS	Illumina GAIIx	Phase_I	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	2140	-	all_hematologic(180;0.208)	Renal(120;0.0854)	714			Cadherin 6.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.2141T>G	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195245	0.78902	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.61742	0.08;0.58	5.01	5.01	0.66863	Cadherin (3);Cadherin-like (1);	0.420237	0.21475	N	0.073927	T	0.72145	0.3424	M	0.75447	2.3	0.80722	D	1	D;P	0.60160	0.987;0.944	P;P	0.58391	0.838;0.463	T	0.76631	-0.2888	10	0.87932	D	0	.	15.0135	0.71567	1.0:0.0:0.0:0.0	.	1213;714	E9PC11;Q6V1P9	.;PCD23_HUMAN	S	714;1213;1213	ENSP00000349768:I714S;ENSP00000345062:I1213S	ENSP00000345062:I1213S	I	-	2	0	DCHS2	155473172	0.959000	0.32827	0.313000	0.25210	0.982000	0.71751	8.685000	0.91246	1.992000	0.58205	0.482000	0.46254	ATT		0.413	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		47	70	0	0	0	1	0	47	70					C	155253722	A	C	155253722	3	2	48	1	0	0	0	0	1	0	0	0	4290	101	4	4	6773	4	DCHS2	4	155253722	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	72970	155253722	35900554	1353	5821										
DCHS2	54798	broad.mit.edu	37	chr4	155312322	155312322	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atttttgttcttacctctgaGatttcacaatggaatttatt	5	6	3	1	rs538493825		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155312322G>T	ENST00000357232.4	-	1	127	c.128C>A	c.(127-129)tCt>tAt	p.S43Y	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	43					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)		TTACCTCTGAGATTTCACAAT	0.323																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(127-129)tCt>tAt		dachsous cadherin-related 2							123	116	118					4																	155312322		2203	4299	6502	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155312322G>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.128C>A	4.37:g.155312322G>T	ENSP00000349768:p.Ser43Tyr		Somatic				DCHS2_ENST00000339452.1_Intron	p.S43Y	NM_017639.3	NP_060109.2	WXS	Illumina GAIIx	Phase_I	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	1	127	-	all_hematologic(180;0.208)	Renal(120;0.0854)	43					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.128C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	0.949	-0.706923	0.03230	.	.	ENSG00000197410	ENST00000357232	T	0.55234	0.53	2.88	-0.242	0.13039	.	.	.	.	.	T	0.28896	0.0717	N	0.08118	0	0.09310	N	1	P	0.50819	0.939	P	0.44860	0.462	T	0.14117	-1.0484	9	0.25751	T	0.34	.	4.7474	0.13043	0.1395:0.4413:0.4191:0.0	.	43	Q6V1P9	PCD23_HUMAN	Y	43	ENSP00000349768:S43Y	ENSP00000349768:S43Y	S	-	2	0	DCHS2	155531772	0.002000	0.14202	0.005000	0.12908	0.129000	0.20672	-0.077000	0.11394	-0.091000	0.12440	0.591000	0.81541	TCT		0.323	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		3	18	1	0	0.150653	1	0.151842	3	18					T	155312322	G	T	155312322	3	4	48	1	0	0	0	0	1	0	0	0	4290	942	33	2	8818	2	DCHS2	4	155312322	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	58600	155312322	35841954	1354	5822										
FGB	2244	broad.mit.edu	37	chr4	155490690	155490690	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atattggcttggaaatgataAaattagccagcttaccagga	9	6	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155490690A>C	ENST00000302068.4	+	7	1046	c.983A>C	c.(982-984)aAa>aCa	p.K328T	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.K109T	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	328	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)	GGAAATGATAAAATTAGCCAG	0.358																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(982-984)aAa>aCa		fibrinogen beta chain	Sucralfate(DB00364)						61	65	64					4																	155490690		2202	4300	6502	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.chr4:155490690A>C		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.983A>C	4.37:g.155490690A>C	ENSP00000306099:p.Lys328Thr		Somatic				FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.K109T	p.K328T	NM_005141.4	NP_005132.2	WXS	Illumina GAIIx	Phase_I	P02675	FIBB_HUMAN			7	1046	+	all_hematologic(180;0.215)	Renal(120;0.0458)	328			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.983A>C	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.566687	0.45694	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.79033	-1.23;-1.23	5.53	4.35	0.52113	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.095440	0.64402	D	0.000001	T	0.80793	0.4691	L	0.49455	1.56	0.47308	D	0.999388	D;B	0.57571	0.98;0.08	P;B	0.56960	0.81;0.115	T	0.80564	-0.1326	10	0.52906	T	0.07	.	11.6067	0.51037	0.9301:0.0:0.0699:0.0	.	311;328	B4E1D3;P02675	.;FIBB_HUMAN	T	328;311;109	ENSP00000306099:K328T;ENSP00000426757:K109T	ENSP00000306099:K328T	K	+	2	0	FGB	155710140	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.065000	0.49994	1.037000	0.40024	0.533000	0.62120	AAA		0.358	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		9	67	0	0	0	1	0	9	67					C	155490690	A	C	155490690	3	2	48	1	0	0	0	0	1	0	0	0	5839	14	1	4	1009	4	FGB	4	155490690	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	178368	155490690	35663586	1355	5823										
FGA	2243	broad.mit.edu	37	chr4	155505567	155505567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tactctgccccttcctctacGgaaccctcaatcagagcatc	5	17	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155505567G>A	ENST00000302053.3	-	6	2388	c.2310C>T	c.(2308-2310)tcC>tcT	p.S770S		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	770	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTTCCTCTACGGAACCCTCAA	0.527																																					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.(2308-2310)tcC>tcT		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						135	128	131					4																	155505567		2203	4300	6503	SO:0001819	synonymous_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155505567G>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2310C>T	4.37:g.155505567G>A			Somatic					p.S770S	NM_000508.3	NP_000499.1	WXS	Illumina GAIIx	Phase_I	P02671	FIBA_HUMAN			6	2388	-	all_hematologic(180;0.215)	Renal(120;0.0458)	770			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	c.2310C>T	CCDS3787.1																																																																																				0.527	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		38	81	0	0	0	1	0	38	81					A	155505567	G	A	155505567	2	1	48	1	0	0	0	0	0	0	0	1	5838	1103	39	1		1	FGA	4	155505567	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	14877	155505567	35648709	1356	5824										
FGA	2243	broad.mit.edu	37	chr4	155507462	155507462	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatacagagctctcagaggtCcagtgcccagcacttccgcg	11	14	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155507462C>T	ENST00000302053.3	-	5	1197	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*	FGA_ENST00000403106.3_Nonsense_Mutation_p.W373*	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	373					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)	TCTCAGAGGTCCAGTGCCCAG	0.547																																					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.(1117-1119)tgG>tgA		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						64	69	67					4																	155507462		2203	4299	6502	SO:0001587	stop_gained	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.chr4:155507462C>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.1119G>A	4.37:g.155507462C>T	ENSP00000306361:p.Trp373*		Somatic				FGA_ENST00000403106.3_Nonsense_Mutation_p.W373*	p.W373*	NM_000508.3	NP_000499.1	WXS	Illumina GAIIx	Phase_I	P02671	FIBA_HUMAN			5	1197	-	all_hematologic(180;0.215)	Renal(120;0.0458)	373					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Nonsense_Mutation	SNP	ENST00000302053.3	37	c.1119G>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484447	0.63962	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	.	.	.	4.52	3.64	0.41730	.	19.814700	0.00871	N	0.002035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.975	0.41777	0.349:0.651:0.0:0.0	.	.	.	.	X	373	.	ENSP00000306361:W373X	W	-	3	0	FGA	155726912	0.009000	0.17119	0.031000	0.17742	0.010000	0.07245	0.737000	0.26144	2.046000	0.60703	0.650000	0.86243	TGG		0.547	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		8	111	0	0	0	1	0	8	111					T	155507462	C	T	155507462	4	4	48	1	0	0	0	0	0	1	0	0	5838	856	30	3	1533	3	FGA	4	155507462	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1895	155507462	35646814	1357	5825										
FGG	2266	broad.mit.edu	37	chr4	155529776	155529776	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttatattgaatccagtttttCttgaaatctacactgccatc	4	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155529776C>A	ENST00000336098.3	-	7	731	c.693G>T	c.(691-693)aaG>aaT	p.K231N	FGG_ENST00000407946.1_Missense_Mutation_p.K239N|FGG_ENST00000404648.3_Missense_Mutation_p.K231N|FGG_ENST00000405164.1_Missense_Mutation_p.K239N	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	231	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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)	TCCAGTTTTTCTTGAAATCTA	0.358																																						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.(691-693)aaG>aaT		fibrinogen gamma chain	Sucralfate(DB00364)						84	85	85					4																	155529776		2203	4299	6502	SO:0001583	missense	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.chr4:155529776C>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.693G>T	4.37:g.155529776C>A	ENSP00000336829:p.Lys231Asn		Somatic				FGG_ENST00000336098.3_Missense_Mutation_p.K231N|FGG_ENST00000407946.1_Missense_Mutation_p.K239N|FGG_ENST00000405164.1_Missense_Mutation_p.K239N	p.K231N	NM_000509.4	NP_000500.2	WXS	Illumina GAIIx	Phase_I	P02679	FIBG_HUMAN			7	932	-	all_hematologic(180;0.215)	Renal(120;0.0458)	231			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.693G>T	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309814	0.23821	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09	6.17	2.4	0.29515	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.362838	0.31734	N	0.007160	T	0.77322	0.4113	N	0.00033	-2.575	0.38277	D	0.94232	B;B;B;B;B	0.12013	0.005;0.0;0.002;0.005;0.002	B;B;B;B;B	0.19666	0.018;0.006;0.026;0.026;0.015	T	0.72836	-0.4172	10	0.18710	T	0.47	.	7.8811	0.29623	0.4206:0.4517:0.0:0.1277	.	128;239;231;239;231	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	N	231;239;231;239	ENSP00000384860:K231N;ENSP00000384101:K239N;ENSP00000336829:K231N;ENSP00000384552:K239N	ENSP00000336829:K231N	K	-	3	2	FGG	155749226	0.044000	0.20184	1.000000	0.80357	0.996000	0.88848	-0.541000	0.06099	0.931000	0.37242	0.655000	0.94253	AAG		0.358	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		12	24	1	0	0.00010058	1	0.000108553	12	24					A	155529776	C	A	155529776	3	1	48	1	0	0	0	0	1	0	0	0	5878	912	32	2	699	2	FGG	4	155529776	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	22314	155529776	35624500	1358	5826										
FGG	2266	broad.mit.edu	37	chr4	155533543	155533543	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaacataaaaactacttacGaatctttcatctaagatgca	4	8	3	1	rs141554929		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155533543G>A	ENST00000336098.3	-	2	161	c.123C>T	c.(121-123)ttC>ttT	p.F41F	FGG_ENST00000407946.1_Splice_Site_p.F41F|FGG_ENST00000404648.3_Splice_Site_p.F41F|FGG_ENST00000405164.1_Splice_Site_p.F41F	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	41					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)	AACTACTTACGAATCTTTCAT	0.338																																						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.e2+1		fibrinogen gamma chain	Sucralfate(DB00364)	G	,	1,4401		0,1,2200	136	147	143		123,123	1.9	1	4	dbSNP_134	143	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice	FGG	NM_000509.4,NM_021870.2	,	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	,	41/438,41/454	155533543	1,13001	2201	4300	6501	SO:0001630	splice_region_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.chr4:155533543G>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.123+1C>T	4.37:g.155533543G>A			Somatic				FGG_ENST00000336098.3_Splice_Site_p.F41_splice|FGG_ENST00000407946.1_Splice_Site_p.F41_splice|FGG_ENST00000405164.1_Splice_Site_p.F41_splice	p.F41_splice	NM_000509.4	NP_000500.2	WXS	Illumina GAIIx	Phase_I	P02679	FIBG_HUMAN			2	362	-	all_hematologic(180;0.215)	Renal(120;0.0458)	41					A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Splice_Site	SNP	ENST00000336098.3	37	c.123_splice	CCDS3788.1																																																																																				0.338	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870	Silent	11	145	0	0	0	1	0	11	145					A	155533543	G	A	155533543	5	1	48	1	0	0	0	0	0	0	1	0	5878	1072	37	1	1289	1	FGG	4	155533543	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3767	155533543	35620733	1359	5827										
MAP9	79884	broad.mit.edu	37	chr4	156294345	156294345	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggtttcatttttattttgtCtttttcaaattcctcatcct	3	8	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:156294345C>A	ENST00000311277.4	-	4	687	c.424G>T	c.(424-426)Gac>Tac	p.D142Y	AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000379248.2_Missense_Mutation_p.D70Y|MAP9_ENST00000515654.1_Missense_Mutation_p.D142Y	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	142					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTTATTTTGTCTTTTTCAAAT	0.318																																						ENST00000311277.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(424-426)Gac>Tac		microtubule-associated protein 9							49	51	50					4																	156294345		2203	4300	6503	SO:0001583	missense	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156294345C>A	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.424G>T	4.37:g.156294345C>A	ENSP00000310593:p.Asp142Tyr		Somatic				MAP9_ENST00000515654.1_Missense_Mutation_p.D142Y|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000379248.2_Missense_Mutation_p.D70Y	p.D142Y	NM_001039580.1	NP_001034669.1	WXS	Illumina GAIIx	Phase_I	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	4	687	-	all_hematologic(180;0.24)	Renal(120;0.0458)	142					Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	c.424G>T	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634303	0.29068	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836;ENST00000379248	T;T;T;T	0.32272	2.22;2.23;1.49;1.46	5.84	2.08	0.27032	.	0.485399	0.20957	N	0.082627	T	0.38161	0.1030	L	0.40543	1.245	0.09310	N	1	P;D;D;D	0.76494	0.867;0.999;0.988;0.988	B;D;P;P	0.69479	0.367;0.964;0.804;0.804	T	0.06991	-1.0796	10	0.87932	D	0	-0.7499	5.0911	0.14708	0.0:0.6037:0.1623:0.234	.	142;70;142;142	B4DVG9;A8MSM7;B9EJB6;Q49MG5	.;.;.;MAP9_HUMAN	Y	142;142;142;142;70	ENSP00000310593:D142Y;ENSP00000427402:D142Y;ENSP00000394048:D142Y;ENSP00000368550:D70Y	ENSP00000310593:D142Y	D	-	1	0	MAP9	156513795	0.169000	0.23002	0.029000	0.17559	0.330000	0.28571	0.840000	0.27600	0.775000	0.33450	0.557000	0.71058	GAC		0.318	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		12	18	1	0	3.07112e-06	1	3.42433e-06	12	18					A	156294345	C	A	156294345	3	1	48	1	0	0	0	0	1	0	0	0	9279	913	32	2	1563	2	MAP9	4	156294345	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	760802	156294345	34859931	1360	5828										
RXFP1	59350	broad.mit.edu	37	chr4	159533502	159533502	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacattttatggactaaattCtcttattctcttgtaagtac	4	7	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:159533502C>A	ENST00000307765.5	+	8	919	c.668C>A	c.(667-669)tCt>tAt	p.S223Y	RXFP1_ENST00000470033.1_Missense_Mutation_p.S190Y|RXFP1_ENST00000448688.2_Missense_Mutation_p.S142Y|RXFP1_ENST00000343542.5_Missense_Mutation_p.S223Y|RXFP1_ENST00000460056.2_Missense_Mutation_p.S142Y	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	223					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.S223Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GGACTAAATTCTCTTATTCTC	0.274																																						ENST00000307765.5																			1	Substitution - Missense(1)	p.S223Y(1)	large_intestine(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(667-669)tCt>tAt		relaxin/insulin-like family peptide receptor 1							62	58	59					4																	159533502		1786	4060	5846	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159533502C>A	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.668C>A	4.37:g.159533502C>A	ENSP00000303248:p.Ser223Tyr		Somatic				RXFP1_ENST00000460056.2_Missense_Mutation_p.S142Y|RXFP1_ENST00000343542.5_Missense_Mutation_p.S223Y|RXFP1_ENST00000448688.2_Missense_Mutation_p.S142Y|RXFP1_ENST00000470033.1_Missense_Mutation_p.S190Y	p.S223Y	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)	8	919	+	all_hematologic(180;0.24)	Renal(120;0.0854)	223					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.668C>A	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.877169	0.72180	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;D;T	0.85258	3.43;3.43;4.09;-1.96;3.43	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.91106	0.7200	M	0.73753	2.245	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.986;1.0;0.986;0.97;0.983;0.999;1.0;1.0;1.0	D;D;D;P;P;D;D;D;D	0.97110	0.921;0.999;0.921;0.819;0.871;0.993;0.996;1.0;1.0	D	0.91426	0.5162	10	0.72032	D	0.01	.	11.5346	0.50631	0.0:0.9161:0.0:0.0839	.	234;250;142;223;190;142;93;160;223	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q4W5D9;Q9HBX9	.;.;.;.;.;.;.;.;RXFP1_HUMAN	Y	142;223;142;223;190;93	ENSP00000423306:S142Y;ENSP00000303248:S223Y;ENSP00000414885:S142Y;ENSP00000345889:S223Y;ENSP00000420712:S190Y	ENSP00000303248:S223Y	S	+	2	0	RXFP1	159752952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.409000	0.59768	2.624000	0.88883	0.655000	0.94253	TCT		0.274	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		3	13	1	0	6.4e-05	1	6.95424e-05	3	13					A	159533502	C	A	159533502	3	1	48	1	0	0	0	0	1	0	0	0	13774	913	32	2	698	2	RXFP1	4	159533502	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3239157	159533502	31620774	1361	5829										
ETFDH	2110	broad.mit.edu	37	chr4	159627345	159627345	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtttttaataaaaggactCcatgtaactgaatatgagga	8	4	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:159627345C>T	ENST00000511912.1	+	11	1622	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	ETFDH_ENST00000307738.5_Silent_p.L383L	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	430					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TAAAAGGACTCCATGTAACTG	0.373																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(1288-1290)ctC>ctT		electron-transferring-flavoprotein dehydrogenase							72	74	74					4																	159627345		2203	4300	6503	SO:0001819	synonymous_variant	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159627345C>T	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1290C>T	4.37:g.159627345C>T			Somatic				ETFDH_ENST00000307738.5_Silent_p.L383L	p.L430L	NM_004453.2	NP_004444.2	WXS	Illumina GAIIx	Phase_I	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	11	1622	+	all_hematologic(180;0.24)	Renal(120;0.0458)	430					B4E3R9|J3KND9|Q7Z347	Silent	SNP	ENST00000511912.1	37	c.1290C>T	CCDS3800.1																																																																																				0.373	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			9	22	0	0	0	1	0	9	22					T	159627345	C	T	159627345	2	4	48	1	0	0	0	0	0	0	0	1	5273	842	30	3		3	ETFDH	4	159627345	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	93843	159627345	31526931	1362	5830										
FSTL5	56884	broad.mit.edu	37	chr4	162841649	162841649	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acagtggttttcatagaattCtccgtcagatccacacacag	7	11	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:162841649C>A	ENST00000306100.5	-	4	752	c.316G>T	c.(316-318)Gaa>Taa	p.E106*	FSTL5_ENST00000379164.4_Nonsense_Mutation_p.E105*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.E105*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.E105*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	106	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					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)		TCATAGAATTCTCCGTCAGAT	0.438																																						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.(316-318)Gaa>Taa		follistatin-like 5							131	119	123					4																	162841649		2203	4300	6503	SO:0001587	stop_gained	56884					extracellular region	calcium ion binding	g.chr4:162841649C>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.316G>T	4.37:g.162841649C>A	ENSP00000305334:p.Glu106*		Somatic				FSTL5_ENST00000379164.4_Nonsense_Mutation_p.E105*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.E105*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.E105*	p.E106*	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)	4	752	-	all_hematologic(180;0.24)		106			Kazal-like.		E9PCP6|Q9NSW7|Q9ULF7	Nonsense_Mutation	SNP	ENST00000306100.5	37	c.316G>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	40	8.464409	0.98822	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	.	.	.	5.86	4.09	0.47781	.	0.160779	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2245	0.82284	0.0:0.7312:0.2688:0.0	.	.	.	.	X	106;105;105;105	.	ENSP00000305334:E106X	E	-	1	0	FSTL5	163061099	0.998000	0.40836	0.995000	0.50966	0.996000	0.88848	1.405000	0.34635	0.867000	0.35654	0.650000	0.86243	GAA		0.438	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		17	25	1	0	1.67942e-08	1	1.98515e-08	17	25					A	162841649	C	A	162841649	4	1	48	1	0	0	0	0	0	1	0	0	6088	922	32	2	2279	2	FSTL5	4	162841649	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3214304	162841649	28312627	1363	5831										
NPY5R	4889	broad.mit.edu	37	chr4	164272343	164272343	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagaaagaccttctcaagaGaaccactccagaatacttcc	5	14	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:164272343G>T	ENST00000515560.1	+	4	2440	c.918G>T	c.(916-918)gaG>gaT	p.E306D	NPY5R_ENST00000338566.3_Missense_Mutation_p.E306D|NPY5R_ENST00000506953.1_Missense_Mutation_p.E306D			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	306					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)				CTTCTCAAGAGAACCACTCCA	0.418																																					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.(916-918)gaG>gaT		neuropeptide Y receptor Y5							83	86	85					4																	164272343		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272343G>T	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"GPCR / Class A : Neuropeptide receptors : Y"	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.918G>T	4.37:g.164272343G>T	ENSP00000423917:p.Glu306Asp		Somatic				NPY5R_ENST00000506953.1_Missense_Mutation_p.E306D|NPY5R_ENST00000338566.3_Missense_Mutation_p.E306D	p.E306D			WXS	Illumina GAIIx	Phase_I	Q15761	NPY5R_HUMAN			4	2440	+	all_hematologic(180;0.166)	Prostate(90;0.109)	306					Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.918G>T	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	G	0.066	-1.213230	0.01555	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.72394	-0.65;-0.65;-0.65	4.49	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.570273	0.14136	N	0.339072	T	0.45498	0.1345	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16276	-1.0408	10	0.21540	T	0.41	.	0.8595	0.01190	0.2452:0.2288:0.3524:0.1737	.	306	Q15761	NPY5R_HUMAN	D	306	ENSP00000339377:E306D;ENSP00000423917:E306D;ENSP00000423474:E306D	ENSP00000339377:E306D	E	+	3	2	NPY5R	164491793	0.520000	0.26250	0.038000	0.18304	0.231000	0.25187	0.642000	0.24735	-0.044000	0.13491	0.467000	0.42956	GAG		0.418	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		16	40	1	0	0.000422831	1	0.000449533	16	40					T	164272343	G	T	164272343	3	4	48	1	0	0	0	0	1	0	0	0	10619	933	33	2	920	2	NPY5R	4	164272343	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1430694	164272343	26881933	1364	5832										
ANXA10	11199	broad.mit.edu	37	chr4	169086427	169086427	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ataacctccaagaggacattTattcagagacctcaggacac	7	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:169086427T>C	ENST00000359299.3	+	6	616	c.430T>C	c.(430-432)Tat>Cat	p.Y144H		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	144						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AGAGGACATTTATTCAGAGAC	0.333																																						ENST00000359299.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16						c.(430-432)Tat>Cat		annexin A10							78	81	80					4																	169086427		2203	4299	6502	SO:0001583	missense	11199						calcium ion binding|calcium-dependent phospholipid binding	g.chr4:169086427T>C	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"Annexins"	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.430T>C	4.37:g.169086427T>C	ENSP00000352248:p.Tyr144His		Somatic					p.Y144H	NM_007193.4	NP_009124.2	WXS	Illumina GAIIx	Phase_I	Q9UJ72	ANX10_HUMAN		GBM - Glioblastoma multiforme(119;0.0325)	6	616	+		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	144					Q96IQ5|Q9UJV4	Missense_Mutation	SNP	ENST00000359299.3	37	c.430T>C	CCDS34096.1	.	.	.	.	.	.	.	.	.	.	T	9.017	0.984025	0.18889	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	T	0.03242	4.0	5.71	5.71	0.89125	Annexin repeat, conserved site (1);	0.521289	0.20187	N	0.097396	T	0.03434	0.0099	N	0.04880	-0.145	0.39286	D	0.964641	P;B	0.43094	0.799;0.004	P;B	0.45428	0.48;0.012	T	0.66594	-0.5884	10	0.25751	T	0.34	.	14.9572	0.71124	0.0:0.0:0.0:1.0	.	16;144	Q6ITU8;Q9UJ72	.;ANX10_HUMAN	H	144	ENSP00000352248:Y144H	ENSP00000352248:Y144H	Y	+	1	0	ANXA10	169323002	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	3.739000	0.55075	2.180000	0.69256	0.528000	0.53228	TAT		0.333	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193		13	24	0	0	0	1	0	13	24					C	169086427	T	C	169086427	3	2	48	1	0	0	0	0	1	0	0	0	715	1754	61	4	452	4	ANXA10	4	169086427	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	4814084	169086427	22067849	1365	5833										
DDX60	55601	broad.mit.edu	37	chr4	169201497	169201497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attacataccttcttcacttCggcaatgttctttccaggct	5	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:169201497C>T	ENST00000393743.3	-	14	2258	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	656					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.R656Q(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCTTCACTTCGGCAATGTTC	0.363																																						ENST00000393743.3																			2	Substitution - Missense(2)	p.R656Q(2)	large_intestine(2)	breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(1966-1968)cGa>cAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							84	78	80					4																	169201497		2202	4300	6502	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169201497C>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1967G>A	4.37:g.169201497C>T	ENSP00000377344:p.Arg656Gln		Somatic					p.R656Q	NM_017631.5	NP_060101.3	WXS	Illumina GAIIx	Phase_I	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	14	2258	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	656					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.1967G>A	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	9.759	1.169466	0.21621	.	.	ENSG00000137628	ENST00000393743	T	0.18338	2.22	5.48	-8.31	0.01001	.	1.565850	0.03683	N	0.245871	T	0.08223	0.0205	N	0.04355	-0.22	0.09310	N	1	B	0.22346	0.068	B	0.12156	0.007	T	0.21484	-1.0244	10	0.36615	T	0.2	.	14.5318	0.67931	0.1068:0.751:0.0:0.1422	.	656	Q8IY21	DDX60_HUMAN	Q	656	ENSP00000377344:R656Q	ENSP00000377344:R656Q	R	-	2	0	DDX60	169438072	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.504000	0.00449	-1.654000	0.01499	0.563000	0.77884	CGA		0.363	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		24	49	0	0	0	1	0	24	49					T	169201497	C	T	169201497	3	4	48	1	0	0	0	0	1	0	0	0	4380	884	31	1	3271	1	DDX60	4	169201497	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	115070	169201497	21952779	1366	5834										
DDX60L	91351	broad.mit.edu	37	chr4	169300626	169300626	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgcaagtcctgcaaatttCtttggattaccctttttatt	6	8	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:169300626C>A	ENST00000511577.1	-	32	4498	c.4251G>T	c.(4249-4251)aaG>aaT	p.K1417N	DDX60L_ENST00000260184.7_Missense_Mutation_p.K1417N			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1417							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)		CTGCAAATTTCTTTGGATTAC	0.318																																						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.(4249-4251)aaG>aaT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							41	41	41					4																	169300626		1822	4090	5912	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169300626C>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4251G>T	4.37:g.169300626C>A	ENSP00000422423:p.Lys1417Asn		Somatic				DDX60L_ENST00000260184.7_Missense_Mutation_p.K1417N	p.K1417N			WXS	Illumina GAIIx	Phase_I	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	32	4498	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1417					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.4251G>T		.	.	.	.	.	.	.	.	.	.	C	7.446	0.641666	0.14451	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	T;T	0.17854	2.25;2.25	3.51	-2.57	0.06248	.	.	.	.	.	T	0.06325	0.0163	N	0.08118	0	0.09310	N	1	B	0.28324	0.207	B	0.28709	0.093	T	0.42032	-0.9475	9	0.12430	T	0.62	.	5.3042	0.15795	0.2888:0.4269:0.0:0.2843	.	1417	Q5H9U9	DDX6L_HUMAN	N	1417	ENSP00000260184:K1417N;ENSP00000422423:K1417N	ENSP00000260184:K1417N	K	-	3	2	DDX60L	169537201	0.000000	0.05858	0.000000	0.03702	0.162000	0.22319	-1.785000	0.01767	-0.883000	0.03982	-1.842000	0.00583	AAG		0.318	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		5	22	1	0	0.014758	1	0.015099	5	22					A	169300626	C	A	169300626	3	1	48	1	0	0	0	0	1	0	0	0	4381	912	32	2	897	2	DDX60L	4	169300626	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	99129	169300626	21853650	1367	5835										
DDX60L	91351	broad.mit.edu	37	chr4	169317216	169317216	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctccaggaaattaatatatTcagctctatacacttttttt	3	8	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:169317216T>G	ENST00000511577.1	-	27	3798	c.3551A>C	c.(3550-3552)gAa>gCa	p.E1184A	DDX60L_ENST00000505890.1_Missense_Mutation_p.E1185A|DDX60L_ENST00000260184.7_Missense_Mutation_p.E1184A			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1184							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)		ATTAATATATTCAGCTCTATA	0.308																																						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.(3550-3552)gAa>gCa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							58	54	55					4																	169317216		1791	4063	5854	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169317216T>G	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.3551A>C	4.37:g.169317216T>G	ENSP00000422423:p.Glu1184Ala		Somatic				DDX60L_ENST00000505890.1_Missense_Mutation_p.E1185A|DDX60L_ENST00000260184.7_Missense_Mutation_p.E1184A	p.E1184A			WXS	Illumina GAIIx	Phase_I	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	27	3798	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1184					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.3551A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.74|10.74	1.434461|1.434461	0.25813|0.25813	.|.	.|.	ENSG00000181381|ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890|ENST00000514580	T;T;T|.	0.45276|.	0.9;0.9;0.96|.	1.91|1.91	1.91|1.91	0.25777|0.25777	.|.	0.419874|.	0.16821|.	U|.	0.198177|.	T|.	0.40791|.	0.1131|.	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	D;P;D|.	0.71674|.	0.998;0.86;0.998|.	D;B;D|.	0.63703|.	0.917;0.333;0.917|.	T|.	0.31613|.	-0.9937|.	10|.	0.21540|.	T|.	0.41|.	.|.	4.1411|4.1411	0.10194|0.10194	0.3119:0.0:0.0:0.6881|0.3119:0.0:0.0:0.6881	.|.	1184;1185;1184|.	E9PAP8;D6R906;Q5H9U9|.	.;.;DDX6L_HUMAN|.	A|C	1184;1184;1185|71	ENSP00000260184:E1184A;ENSP00000422423:E1184A;ENSP00000422202:E1185A|.	ENSP00000260184:E1184A|.	E|X	-|-	2|3	0|0	DDX60L|DDX60L	169553791|169553791	0.380000|0.380000	0.25131|0.25131	0.006000|0.006000	0.13384|0.13384	0.057000|0.057000	0.15508|0.15508	1.050000|1.050000	0.30404|0.30404	1.111000|1.111000	0.41721|0.41721	0.260000|0.260000	0.18958|0.18958	GAA|TGA		0.308	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		10	19	0	0	0	1	0	10	19					G	169317216	T	G	169317216	3	3	48	1	0	0	0	0	1	0	0	0	4381	1783	62	4	1617	4	DDX60L	4	169317216	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	16590	169317216	21837060	1368	5836										
GLRA3	8001	broad.mit.edu	37	chr4	175565138	175565138	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggttggggccctttggagtCatgccatcctttgcttgtag	13	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:175565138C>A	ENST00000274093.3	-	10	1696	c.1194G>T	c.(1192-1194)atG>atT	p.M398I	GLRA3_ENST00000340217.5_Missense_Mutation_p.M383I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	398					ion transmembrane transport (GO:0034220)|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)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	CCTTTGGAGTCATGCCATCCT	0.473																																						ENST00000274093.3																			0				endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35						c.(1192-1194)atG>atT		glycine receptor, alpha 3	Glycine(DB00145)						170	142	151					4																	175565138		2203	4300	6503	SO:0001583	missense	8001				synaptic transmission	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.chr4:175565138C>A	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1194G>T	4.37:g.175565138C>A	ENSP00000274093:p.Met398Ile		Somatic				GLRA3_ENST00000340217.5_Missense_Mutation_p.M383I	p.M398I	NM_006529.2	NP_006520.2	WXS	Illumina GAIIx	Phase_I	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	10	1696	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	398					D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	c.1194G>T	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	C	1.142	-0.649308	0.03506	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.83250	-1.7;-1.7	5.98	0.492	0.16872	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.834183	0.11319	N	0.576277	T	0.61515	0.2353	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46527	-0.9185	10	0.27082	T	0.32	.	4.0737	0.09894	0.2013:0.5336:0.0902:0.1749	.	383;398	O75311-2;O75311	.;GLRA3_HUMAN	I	398;383	ENSP00000274093:M398I;ENSP00000345284:M383I	ENSP00000274093:M398I	M	-	3	0	GLRA3	175801713	0.006000	0.16342	0.140000	0.22221	0.148000	0.21650	-0.128000	0.10531	0.099000	0.17552	-0.282000	0.10007	ATG		0.473	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			21	55	1	0	3.51602e-12	1	4.42195e-12	21	55					A	175565138	C	A	175565138	3	1	48	1	0	0	0	0	1	0	0	0	6464	826	29	2	204	2	GLRA3	4	175565138	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	6247922	175565138	15589138	1369	5837										
SPATA4	132851	broad.mit.edu	37	chr4	177113898	177113898	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctgataacctaatgttatCtttaatagacttcgaaactg	5	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:177113898C>A	ENST00000280191.2	-	4	676	c.568G>T	c.(568-570)Gat>Tat	p.D190Y	SPATA4_ENST00000515234.1_Missense_Mutation_p.D17Y	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	190						cytoplasm (GO:0005737)				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		CTAATGTTATCTTTAATAGAC	0.368																																						ENST00000515234.1																			0				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22						c.(49-51)Gat>Tat		spermatogenesis associated 4							74	75	74					4																	177113898		2203	4300	6503	SO:0001583	missense	132851				apoptosis|spermatogenesis			g.chr4:177113898C>A	AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.568G>T	4.37:g.177113898C>A	ENSP00000280191:p.Asp190Tyr		Somatic				SPATA4_ENST00000280191.2_Missense_Mutation_p.D190Y	p.D17Y			WXS	Illumina GAIIx	Phase_I	Q8NEY3	SPAT4_HUMAN		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)	3	1644	-		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	190					Q8NCS5|Q8WW15	Missense_Mutation	SNP	ENST00000280191.2	37	c.49G>T	CCDS3826.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928334	0.52759	.	.	ENSG00000150628	ENST00000280191;ENST00000515234	T	0.22539	1.95	5.27	-0.213	0.13165	.	0.346265	0.30320	N	0.009896	T	0.25195	0.0612	L	0.39898	1.24	0.09310	N	1	D	0.62365	0.991	P	0.61070	0.883	T	0.06516	-1.0822	10	0.72032	D	0.01	-9.3996	4.5287	0.11994	0.1648:0.3033:0.0:0.5319	.	190	Q8NEY3	SPAT4_HUMAN	Y	190;17	ENSP00000280191:D190Y	ENSP00000280191:D190Y	D	-	1	0	SPATA4	177350892	0.826000	0.29277	0.928000	0.36995	0.986000	0.74619	-0.071000	0.11505	0.041000	0.15688	0.655000	0.94253	GAT		0.368	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644		7	23	1	0	0.00198382	1	0.00207034	7	23					A	177113898	C	A	177113898	3	1	48	1	0	0	0	0	1	0	0	0	15025	913	32	2	361	2	SPATA4	4	177113898	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1548760	177113898	14040378	1370	5838										
SPATA4	132851	broad.mit.edu	37	chr4	177114180	177114180	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagctttacaatgaattgtTccatggattagttctttagg	8	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:177114180T>C	ENST00000280191.2	-	3	504	c.396A>G	c.(394-396)ggA>ggG	p.G132G	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	132						cytoplasm (GO:0005737)				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		AATGAATTGTTCCATGGATTA	0.284																																						ENST00000280191.2																			0				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22						c.(394-396)ggA>ggG		spermatogenesis associated 4							54	56	56					4																	177114180		2202	4290	6492	SO:0001819	synonymous_variant	132851				apoptosis|spermatogenesis			g.chr4:177114180T>C	AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.396A>G	4.37:g.177114180T>C			Somatic				SPATA4_ENST00000515234.1_5'UTR	p.G132G	NM_144644.2	NP_653245.2	WXS	Illumina GAIIx	Phase_I	Q8NEY3	SPAT4_HUMAN		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)	3	504	-		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	132					Q8NCS5|Q8WW15	Silent	SNP	ENST00000280191.2	37	c.396A>G	CCDS3826.1																																																																																				0.284	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644		15	24	0	0	0	1	0	15	24					C	177114180	T	C	177114180	2	2	48	1	0	0	0	0	0	0	0	1	15025	1770	62	4		4	SPATA4	4	177114180	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	282	177114180	14040096	1371	5839										
ODZ3	55714	broad.mit.edu	37	chr4	183714933	183714933	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtggacaacacctgacataGaaatctggaaaagaattggg	12	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:183714933G>T	ENST00000511685.1	+	26	7231	c.7108G>T	c.(7108-7110)Gaa>Taa	p.E2370*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.E2370*			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2370					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)										ACCTGACATAGAAATCTGGAA	0.413																																						ENST00000511685.1																			0											c.(7108-7110)Gaa>Taa		teneurin transmembrane protein 3							82	78	79					4																	183714933		1838	4081	5919	SO:0001587	stop_gained	55714							g.chr4:183714933G>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.7108G>T	4.37:g.183714933G>T	ENSP00000424226:p.Glu2370*		Somatic				TENM3_ENST00000406950.2_Nonsense_Mutation_p.E2370*	p.E2370*			WXS	Illumina GAIIx	Phase_I					26	7231	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Nonsense_Mutation	SNP	ENST00000511685.1	37	c.7108G>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	47	13.308793	0.99733	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.5759	0.91154	0.0:0.0:1.0:0.0	.	.	.	.	X	2370	.	ENSP00000385276:E2370X	E	+	1	0	ODZ3	183951927	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.021000	0.64072	2.683000	0.91414	0.655000	0.94253	GAA		0.413	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			15	45	1	0	3.41278e-10	1	4.16994e-10	15	45					T	183714933	G	T	183714933	4	4	48	1	0	0	0	0	0	1	0	0	10845	943	33	2	7206	2	ODZ3	4	183714933	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	6600753	183714933	7439343	1372	5840										
ING2	3622	broad.mit.edu	37	chr4	184431545	184431545	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagcactaattaatagtcaaGaattgggagatgaaaaaata	9	3	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:184431545G>T	ENST00000302327.3	+	2	485	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	ING2_ENST00000434682.2_Nonsense_Mutation_p.E55*	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	95					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)		TAATAGTCAAGAATTGGGAGA	0.368																																						ENST00000302327.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(283-285)Gaa>Taa		inhibitor of growth family, member 2							112	128	123					4																	184431545		2203	4300	6503	SO:0001587	stop_gained	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.chr4:184431545G>T	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.283G>T	4.37:g.184431545G>T	ENSP00000307183:p.Glu95*		Somatic				ING2_ENST00000434682.2_Nonsense_Mutation_p.E55*	p.E95*	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	485	+		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)	95					B6ZDS1|O95698	Nonsense_Mutation	SNP	ENST00000302327.3	37	c.283G>T	CCDS3833.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094376	0.94149	.	.	ENSG00000168556	ENST00000302327;ENST00000412117;ENST00000434682	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-25.0828	19.6941	0.96016	0.0:0.0:1.0:0.0	.	.	.	.	X	95;55;55	.	ENSP00000307183:E95X	E	+	1	0	ING2	184668539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.222000	0.95196	2.885000	0.99019	0.655000	0.94253	GAA		0.368	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318652.1	NM_001564		42	90	1	0	1.48646e-12	1	1.88167e-12	42	90					T	184431545	G	T	184431545	4	4	48	1	0	0	0	0	0	1	0	0	7745	943	33	2	289	2	ING2	4	184431545	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	716612	184431545	6722731	1373	5841										
C4orf41	60684	broad.mit.edu	37	chr4	184598657	184598657	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacacgaattgagagcccatGaaactaatattctggaaatt	7	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:184598657G>T	ENST00000334690.6	+	8	983	c.781G>T	c.(781-783)Gaa>Taa	p.E261*	TRAPPC11_ENST00000357207.4_Nonsense_Mutation_p.E261*|RNU6-335P_ENST00000364563.1_RNA|TRAPPC11_ENST00000511409.1_3'UTR	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	261					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											GAGAGCCCATGAAACTAATAT	0.308																																						ENST00000334690.6																			0											c.(781-783)Gaa>Taa		trafficking protein particle complex 11							89	102	97					4																	184598657		2203	4296	6499	SO:0001587	stop_gained	60684							g.chr4:184598657G>T		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.781G>T	4.37:g.184598657G>T	ENSP00000335371:p.Glu261*		Somatic				TRAPPC11_ENST00000357207.4_Nonsense_Mutation_p.E261*|TRAPPC11_ENST00000511409.1_3'UTR	p.E261*	NM_021942.5	NP_068761.4	WXS	Illumina GAIIx	Phase_I	Q7Z392	CD041_HUMAN			8	983	+			261					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Nonsense_Mutation	SNP	ENST00000334690.6	37	c.781G>T	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	G	38	6.726898	0.97792	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	19.4019	0.94634	0.0:0.0:1.0:0.0	.	.	.	.	X	261	.	ENSP00000335371:E261X	E	+	1	0	C4orf41	184835651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.616000	0.98359	2.645000	0.89757	0.591000	0.81541	GAA		0.308	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		10	53	1	0	1.08611e-07	1	1.25818e-07	10	53					T	184598657	G	T	184598657	4	4	48	1	0	0	0	0	0	1	0	0	2272	1291	45	2	807	2	C4orf41	4	184598657	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	167112	184598657	6555619	1374	5842										
ENPP6	133121	broad.mit.edu	37	chr4	185012528	185012528	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagcagctctgaagttggaTttgaaatctgaaagggaaag	14	4	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185012528T>G	ENST00000296741.2	-	8	1266	c.1125A>C	c.(1123-1125)aaA>aaC	p.K375N		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	375					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TGAAGTTGGATTTGAAATCTG	0.507																																						ENST00000296741.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15						c.(1123-1125)aaA>aaC		ectonucleotide pyrophosphatase/phosphodiesterase 6							78	79	79					4																	185012528		2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185012528T>G	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.1125A>C	4.37:g.185012528T>G	ENSP00000296741:p.Lys375Asn		Somatic					p.K375N	NM_153343.3	NP_699174.1	WXS	Illumina GAIIx	Phase_I	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	8	1266	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	375					Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.1125A>C	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.935762	0.73442	.	.	ENSG00000164303	ENST00000296741	T	0.77358	-1.09	6.08	-4.09	0.03951	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.086182	0.85682	N	0.000000	T	0.74191	0.3684	M	0.82193	2.58	0.39592	D	0.969605	P	0.43314	0.803	B	0.40702	0.338	T	0.74179	-0.3749	10	0.66056	D	0.02	-19.2733	9.9513	0.41640	0.0:0.5224:0.1046:0.3729	.	375	Q6UWR7	ENPP6_HUMAN	N	375	ENSP00000296741:K375N	ENSP00000296741:K375N	K	-	3	2	ENPP6	185249522	0.531000	0.26338	0.943000	0.38184	0.965000	0.64279	-0.043000	0.12043	-0.531000	0.06340	-0.285000	0.09966	AAA		0.507	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		5	97	0	0	0	1	0	5	97					G	185012528	T	G	185012528	3	3	48	1	0	0	0	0	1	0	0	0	5136	1490	52	4	201	4	ENPP6	4	185012528	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	413871	185012528	6141748	1375	5843										
CCDC111	201973	broad.mit.edu	37	chr4	185580506	185580506	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttatgcaggacgttcatgtaTttgctttggaatgcaaagta	10	5	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185580506T>C	ENST00000314970.6	+	4	626	c.193T>C	c.(193-195)Ttt>Ctt	p.F65L	PRIMPOL_ENST00000515774.1_5'UTR|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.F65L|PRIMPOL_ENST00000512834.1_Missense_Mutation_p.F65L	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	65					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										CGTTCATGTATTTGCTTTGGA	0.338																																						ENST00000314970.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16						c.(193-195)Ttt>Ctt									201	186	191					4																	185580506		2203	4300	6503	SO:0001583	missense	0				DNA replication, synthesis of RNA primer		DNA primase activity	g.chr4:185580506T>C	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"coiled-coil domain containing 111"	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.193T>C	4.37:g.185580506T>C	ENSP00000313816:p.Phe65Leu		Somatic				CCDC111_ENST00000515774.1_5'UTR|CCDC111_ENST00000512834.1_Missense_Mutation_p.F65L|CCDC111_ENST00000503752.1_Missense_Mutation_p.F65L	p.F65L	NM_152683.2	NP_689896.1	WXS	Illumina GAIIx	Phase_I	Q96LW4	CC111_HUMAN		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	4	626	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)	65					D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP	ENST00000314970.6	37	c.193T>C	CCDS3837.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.325960	0.60743	.	.	ENSG00000164306	ENST00000314970;ENST00000503752;ENST00000512834	T;T;T	0.52526	0.67;0.67;0.66	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.65101	0.2659	M	0.81341	2.54	0.52099	D	0.999945	P;D	0.63880	0.926;0.993	P;P	0.56700	0.629;0.804	T	0.68055	-0.5510	10	0.42905	T	0.14	-8.7884	15.5712	0.76337	0.0:0.0:0.0:1.0	.	65;65	Q96LW4;D6RDM1	CC111_HUMAN;.	L	65	ENSP00000313816:F65L;ENSP00000420860:F65L;ENSP00000425316:F65L	ENSP00000313816:F65L	F	+	1	0	CCDC111	185817500	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	6.173000	0.71937	2.086000	0.62901	0.363000	0.22086	TTT		0.338	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		28	32	0	0	0	1	0	28	32					C	185580506	T	C	185580506	3	2	48	1	0	0	0	0	1	0	0	0	2750	1493	52	4	199	4	CCDC111	4	185580506	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	567978	185580506	5573770	1376	5844										
CCDC111	201973	broad.mit.edu	37	chr4	185593505	185593505	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acagaggaaagctggacatcGaattcaaagaaactggagag	12	6	1	3	rs549819226		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185593505G>A	ENST00000314970.6	+	7	1168	c.735G>A	c.(733-735)tcG>tcA	p.S245S	PRIMPOL_ENST00000515774.1_Silent_p.S116S|PRIMPOL_ENST00000503752.1_Silent_p.S245S|PRIMPOL_ENST00000512834.1_Silent_p.S245S	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	245					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										GCTGGACATCGAATTCAAAGA	0.428													G|||	1	0.000199681	0	0	5008	,	,		15832	0		0.001	False		,,,				2504	0					ENST00000314970.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16						c.(733-735)tcG>tcA									75	83	80					4																	185593505		2203	4300	6503	SO:0001819	synonymous_variant	0				DNA replication, synthesis of RNA primer		DNA primase activity	g.chr4:185593505G>A	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"coiled-coil domain containing 111"	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.735G>A	4.37:g.185593505G>A			Somatic				CCDC111_ENST00000515774.1_Silent_p.S116S|CCDC111_ENST00000512834.1_Silent_p.S245S|CCDC111_ENST00000503752.1_Silent_p.S245S	p.S245S	NM_152683.2	NP_689896.1	WXS	Illumina GAIIx	Phase_I	Q96LW4	CC111_HUMAN		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	7	1168	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)	245					D3DP55|D6RDM1|Q5HYJ9	Silent	SNP	ENST00000314970.6	37	c.735G>A	CCDS3837.1																																																																																				0.428	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		32	51	0	0	0	1	0	32	51					A	185593505	G	A	185593505	2	1	48	1	0	0	0	0	0	0	0	1	2750	1045	37	1		1	CCDC111	4	185593505	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	12999	185593505	5560771	1377	5845										
ACSL1	2180	broad.mit.edu	37	chr4	185681620	185681620	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgtgccagcttaaatatgTgctttttccggtcgataatt	8	8	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185681620T>C	ENST00000515030.1	-	18	1998	c.1673A>G	c.(1672-1674)cAc>cGc	p.H558R	ACSL1_ENST00000507295.1_Missense_Mutation_p.H524R|ACSL1_ENST00000281455.2_Missense_Mutation_p.H558R|ACSL1_ENST00000454703.2_Missense_Mutation_p.H387R|ACSL1_ENST00000513317.1_Missense_Mutation_p.H558R|ACSL1_ENST00000504342.1_Missense_Mutation_p.H558R|ACSL1_ENST00000437665.3_Missense_Mutation_p.H387R			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	558					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTTAAATATGTGCTTTTTCCG	0.463																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(1672-1674)cAc>cGc		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						329	351	344					4																	185681620		2203	4300	6503	SO:0001583	missense	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185681620T>C	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1673A>G	4.37:g.185681620T>C	ENSP00000422607:p.His558Arg		Somatic				ACSL1_ENST00000437665.3_Missense_Mutation_p.H387R|ACSL1_ENST00000454703.2_Missense_Mutation_p.H387R|ACSL1_ENST00000507295.1_Missense_Mutation_p.H524R|ACSL1_ENST00000513317.1_Missense_Mutation_p.H558R|ACSL1_ENST00000281455.2_Missense_Mutation_p.H558R|ACSL1_ENST00000504342.1_Missense_Mutation_p.H558R	p.H558R			WXS	Illumina GAIIx	Phase_I	P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	18	1998	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	558					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	c.1673A>G	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500206	0.64298	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89;2.89;2.89	5.67	5.67	0.87782	AMP-dependent synthetase/ligase (1);	0.088049	0.85682	N	0.000000	T	0.24392	0.0591	M	0.86268	2.805	0.80722	D	1	B;B;B;B	0.18166	0.015;0.026;0.026;0.021	B;B;B;B	0.32090	0.14;0.119;0.061;0.036	T	0.03545	-1.1026	10	0.72032	D	0.01	-18.1838	15.9204	0.79562	0.0:0.0:0.0:1.0	.	524;558;558;548	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	R	387;558;154;558;524;387;558;558	ENSP00000407165:H387R;ENSP00000422607:H558R;ENSP00000425098:H154R;ENSP00000281455:H558R;ENSP00000426244:H524R;ENSP00000405687:H387R;ENSP00000425006:H558R;ENSP00000426150:H558R	ENSP00000281455:H558R	H	-	2	0	ACSL1	185918614	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.908000	0.87438	2.164000	0.68074	0.533000	0.62120	CAC		0.463	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		123	255	0	0	0	1	0	123	255					C	185681620	T	C	185681620	3	2	48	1	0	0	0	0	1	0	0	0	177	1696	59	4	439	4	ACSL1	4	185681620	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	88115	185681620	5472656	1378	5846										
ACSL1	2180	broad.mit.edu	37	chr4	185697685	185697685	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caccccacacctctggcctcGttccaccagttcactgccgt	6	20	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185697685G>A	ENST00000515030.1	-	7	1034	c.709C>T	c.(709-711)Cga>Tga	p.R237*	ACSL1_ENST00000507295.1_Nonsense_Mutation_p.R203*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.R237*|ACSL1_ENST00000504900.1_Nonsense_Mutation_p.R237*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.R66*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.R237*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.R237*|ACSL1_ENST00000437665.3_Nonsense_Mutation_p.R66*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	237					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCTGGCCTCGTTCCACCAGT	0.517																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(709-711)Cga>Tga		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						144	137	139					4																	185697685		2203	4300	6503	SO:0001587	stop_gained	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185697685G>A	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.709C>T	4.37:g.185697685G>A	ENSP00000422607:p.Arg237*		Somatic				ACSL1_ENST00000437665.3_Nonsense_Mutation_p.R66*|ACSL1_ENST00000504900.1_Nonsense_Mutation_p.R237*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.R66*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.R203*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.R237*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.R237*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.R237*	p.R237*			WXS	Illumina GAIIx	Phase_I	P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	7	1034	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	237					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Nonsense_Mutation	SNP	ENST00000515030.1	37	c.709C>T	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	G	37	6.044862	0.97231	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317;ENST00000504900	.	.	.	5.77	4.93	0.64822	.	0.262304	0.36409	N	0.002618	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3036	9.9544	0.41657	0.0693:0.0:0.7932:0.1375	.	.	.	.	X	66;237;237;203;66;237;237;237	.	ENSP00000281455:R237X	R	-	1	2	ACSL1	185934679	0.896000	0.30565	0.610000	0.28997	0.812000	0.45895	3.796000	0.55507	1.583000	0.49898	0.655000	0.94253	CGA		0.517	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		28	53	0	0	0	1	0	28	53					A	185697685	G	A	185697685	4	1	48	1	0	0	0	0	0	1	0	0	177	1153	40	1	1447	1	ACSL1	4	185697685	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	16065	185697685	5456591	1379	5847										
KIAA1430	57587	broad.mit.edu	37	chr4	186111423	186111423	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcatgtttttctttcccttTtttggctgctttcaaatatt	4	9	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:186111423T>G	ENST00000458385.2	-	2	1047	c.928A>C	c.(928-930)Aaa>Caa	p.K310Q	KIAA1430_ENST00000296775.6_Missense_Mutation_p.K310Q|KIAA1430_ENST00000514798.1_Missense_Mutation_p.K310Q	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		310										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)		TCTTTCCCTTTTTTGGCTGCT	0.333																																						ENST00000458385.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.(928-930)Aaa>Caa		KIAA1430							76	66	70					4																	186111423		1827	4091	5918	SO:0001583	missense	57587							g.chr4:186111423T>G																												ENST00000458385.2:c.928A>C	4.37:g.186111423T>G	ENSP00000409964:p.Lys310Gln		Somatic				KIAA1430_ENST00000296775.6_Missense_Mutation_p.K310Q|KIAA1430_ENST00000514798.1_Missense_Mutation_p.K310Q	p.K310Q	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	1047	-		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)	310					B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	c.928A>C	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	T	7.523	0.657028	0.14580	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.47177	1.43;0.85;0.85	5.03	3.87	0.44632	.	0.399998	0.24846	N	0.035136	T	0.57902	0.2085	M	0.63428	1.95	0.09310	N	0.999997	D;D	0.76494	0.999;0.998	D;P	0.70016	0.967;0.905	T	0.47522	-0.9111	10	0.39692	T	0.17	-21.0488	5.6617	0.17672	0.1634:0.0853:0.0:0.7512	.	310;310	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	Q	310	ENSP00000409964:K310Q;ENSP00000423312:K310Q;ENSP00000296775:K310Q	ENSP00000296775:K310Q	K	-	1	0	KIAA1430	186348417	0.515000	0.26210	0.932000	0.37286	0.039000	0.13416	1.368000	0.34216	2.234000	0.73211	0.533000	0.62120	AAA		0.333	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			12	19	0	0	0	1	0	12	19					G	186111423	T	G	186111423	3	3	48	1	0	0	0	0	1	0	0	0	8241	1850	64	4	686	4	KIAA1430	4	186111423	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	413738	186111423	5042853	1380	5848										
CCDC110	256309	broad.mit.edu	37	chr4	186380484	186380484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaacacactgctcagtaacGgaattaactttggaagtttt	8	8	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:186380484G>A	ENST00000307588.3	-	6	1332	c.1257C>T	c.(1255-1257)tcC>tcT	p.S419S	CCDC110_ENST00000510617.1_Silent_p.S419S|CCDC110_ENST00000393540.3_Silent_p.S382S|CCDC110_ENST00000507501.1_5'Flank	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	419						nucleus (GO:0005634)		p.S419S(1)		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)		GCTCAGTAACGGAATTAACTT	0.318																																						ENST00000307588.3																			1	Substitution - coding silent(1)	p.S419S(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(1255-1257)tcC>tcT		coiled-coil domain containing 110							109	111	110					4																	186380484		2203	4298	6501	SO:0001819	synonymous_variant	256309					nucleus		g.chr4:186380484G>A	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1257C>T	4.37:g.186380484G>A			Somatic				CCDC110_ENST00000393540.3_Silent_p.S382S|CCDC110_ENST00000510617.1_Silent_p.S419S	p.S419S	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)	6	1332	-		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)	419					Q86YI9|Q8N7W0	Silent	SNP	ENST00000307588.3	37	c.1257C>T	CCDS3843.1																																																																																				0.318	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		21	64	0	0	0	1	0	21	64					A	186380484	G	A	186380484	2	1	48	1	0	0	0	0	0	0	0	1	2749	1103	39	1		1	CCDC110	4	186380484	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	269061	186380484	4773792	1381	5849										
SORBS2	8470	broad.mit.edu	37	chr4	186535983	186535983	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacaaaaaaccagctgggctAcctttctcagtgacagctcc	7	13	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:186535983A>G	ENST00000284776.7	-	17	3393		c.e17+1		SORBS2_ENST00000437304.2_Splice_Site|SORBS2_ENST00000319471.9_Splice_Site|SORBS2_ENST00000448662.2_Splice_Site|SORBS2_ENST00000431808.1_Splice_Site|SORBS2_ENST00000418609.1_Splice_Site|SORBS2_ENST00000355634.5_Splice_Site|SORBS2_ENST00000449407.2_Splice_Site|SORBS2_ENST00000393528.3_Splice_Site|SORBS2_ENST00000498125.1_Splice_Site	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2						actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGCTGGGCTACCTTTCTCAG	0.418																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.e18+1		sorbin and SH3 domain containing 2							97	100	99					4																	186535983		2203	4300	6503	SO:0001630	splice_region_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186535983A>G		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2883+1T>C	4.37:g.186535983A>G			Somatic				SORBS2_ENST00000437304.2_Splice_Site|SORBS2_ENST00000393528.3_Splice_Site|SORBS2_ENST00000355634.5_Splice_Site|SORBS2_ENST00000319471.9_Splice_Site|SORBS2_ENST00000284776.7_Splice_Site|SORBS2_ENST00000448662.2_Splice_Site|SORBS2_ENST00000449407.2_Splice_Site|SORBS2_ENST00000498125.1_Splice_Site|SORBS2_ENST00000418609.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	18	3447	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)						A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Splice_Site	SNP	ENST00000284776.7	37		CCDS3845.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.048649	0.55110	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1467	0.72657	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SORBS2	186772977	1.000000	0.71417	0.985000	0.45067	0.598000	0.36846	7.370000	0.79589	2.225000	0.72522	0.455000	0.32223	.		0.418	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603	Intron	15	34	0	0	0	1	0	15	34					G	186535983	A	G	186535983	5	3	48	1	0	0	0	0	0	0	1	0	14943	405	14	4	437	4	SORBS2	4	186535983	Splice_Site	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	155499	186535983	4618293	1382	5850										
CYP4V2	285440	broad.mit.edu	37	chr4	187120134	187120134	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagtgagatgatatttcgaaGaataaagatgccctggcttt	11	5	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187120134G>T	ENST00000378802.4	+	6	1002	c.698G>T	c.(697-699)aGa>aTa	p.R233I		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	233					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		ATATTTCGAAGAATAAAGATG	0.373																																						ENST00000378802.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20						c.(697-699)aGa>aTa		cytochrome P450, family 4, subfamily V, polypeptide 2							136	134	135					4																	187120134		2203	4300	6503	SO:0001583	missense	285440				response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr4:187120134G>T	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"Cytochrome P450s"	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.698G>T	4.37:g.187120134G>T	ENSP00000368079:p.Arg233Ile		Somatic					p.R233I	NM_207352.3	NP_997235.3	WXS	Illumina GAIIx	Phase_I	Q6ZWL3	CP4V2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)	6	1002	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	233					B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	37	c.698G>T	CCDS34119.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871170	0.72065	.	.	ENSG00000145476	ENST00000378802;ENST00000274118	T	0.79749	-1.3	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.93756	0.8004	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.96111	0.9077	10	0.87932	D	0	.	18.0484	0.89340	0.0:0.0:1.0:0.0	.	233	Q6ZWL3	CP4V2_HUMAN	I	233;211	ENSP00000368079:R233I	ENSP00000274118:R211I	R	+	2	0	CYP4V2	187357128	1.000000	0.71417	0.997000	0.53966	0.277000	0.26821	9.256000	0.95535	2.501000	0.84356	0.644000	0.83932	AGA		0.373	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		13	38	1	0	0.00316338	1	0.00328853	13	38					T	187120134	G	T	187120134	3	4	48	1	0	0	0	0	1	0	0	0	4194	942	33	2	720	2	CYP4V2	4	187120134	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	584151	187120134	4034142	1383	5851										
KLKB1	3818	broad.mit.edu	37	chr4	187175855	187175855	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattattcaccaaaactataAagtctcagaagggaatcatg	6	7	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187175855A>C	ENST00000264690.6	+	12	1614	c.1427A>C	c.(1426-1428)aAa>aCa	p.K476T	KLKB1_ENST00000513864.1_Missense_Mutation_p.K476T	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	476	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)		CAAAACTATAAAGTCTCAGAA	0.363																																						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.(1426-1428)aAa>aCa		kallikrein B, plasma (Fletcher factor) 1							72	76	74					4																	187175855		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187175855A>C	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.1427A>C	4.37:g.187175855A>C	ENSP00000264690:p.Lys476Thr		Somatic				KLKB1_ENST00000513864.1_Missense_Mutation_p.K476T	p.K476T	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	1614	+		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)	476			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1427A>C	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.714|0.714	-0.786076|-0.786076	0.02907|0.02907	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	D|D;D	0.92911|0.92752	-3.13|-3.1;-3.1	5.8|5.8	0.52|0.52	0.17040|0.17040	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.631279|0.631279	0.16717|0.16717	N|N	0.202436|0.202436	T|T	0.81014|0.81014	0.4735|0.4735	N|N	0.11364|0.11364	0.135|0.135	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.14805	.|0.011;0.001;0.011	.|B;B;B	.|0.18561	.|0.022;0.013;0.022	T|T	0.66654|0.66654	-0.5869|-0.5869	8|10	0.49607|0.33141	T|T	0.09|0.24	.|.	7.9264|7.9264	0.29876|0.29876	0.5945:0.1034:0.302:0.0|0.5945:0.1034:0.302:0.0	.|.	.|438;476;476	.|E7EQA8;A8K9A9;P03952	.|.;.;KLKB1_HUMAN	Q|T	524|476;476;438	ENSP00000426629:K524Q|ENSP00000264690:K476T;ENSP00000424469:K476T	ENSP00000426629:K524Q|ENSP00000264690:K476T	K|K	+|+	1|2	0|0	KLKB1|KLKB1	187412849|187412849	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.052000|0.052000	0.14988|0.14988	0.233000|0.233000	0.17911|0.17911	-0.377000|-0.377000	0.07930|0.07930	-1.139000|-1.139000	0.01908|0.01908	AAG|AAA		0.363	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		24	34	0	0	0	1	0	24	34					C	187175855	A	C	187175855	3	2	48	1	0	0	0	0	1	0	0	0	8421	14	1	4	1469	4	KLKB1	4	187175855	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	55721	187175855	3978421	1384	5852										
FAT1	2195	broad.mit.edu	37	chr4	187509932	187509932	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctcgacagcgggcgcctcGaagtgtctttgataccctgg	12	13	2	1	rs373825887		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187509932G>A	ENST00000441802.2	-	27	13790	c.13581C>T	c.(13579-13581)ttC>ttT	p.F4527F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4527					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						CGGGCGCCTCGAAGTGTCTTT	0.562										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.(13579-13581)ttC>ttT		FAT atypical cadherin 1		G		1,4127		0,1,2063	60	70	66		13581	-5.7	0	4		66	1,8409		0,1,4204	no	coding-synonymous	FAT1	NM_005245.3		0,2,6267	AA,AG,GG		0.0119,0.0242,0.016		4527/4589	187509932	2,12536	2064	4205	6269	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.chr4:187509932G>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.13581C>T	4.37:g.187509932G>A		HNSCC(5;0.00058)	Somatic					p.F4527F	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	Q14517	FAT1_HUMAN			27	13790	-			4527						Silent	SNP	ENST00000441802.2	37	c.13581C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.484515	0.01027	2.42E-4	1.19E-4	ENSG00000083857	ENST00000512772	.	.	.	5.37	-5.68	0.02436	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1858	0.31337	0.382:0.2099:0.4081:0.0	.	.	.	.	X	307	.	.	R	-	1	2	FAT1	187746926	0.924000	0.31332	0.028000	0.17463	0.010000	0.07245	0.155000	0.16362	-1.778000	0.01282	-2.039000	0.00418	CGA		0.562	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		25	39	0	0	0	1	0	25	39					A	187509932	G	A	187509932	2	1	48	1	0	0	0	0	0	0	0	1	5697	1049	37	1		1	FAT1	4	187509932	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	334077	187509932	3644344	1385	5853										
FAT1	2195	broad.mit.edu	37	chr4	187539012	187539012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggtggactatcgttgacatCggtgacggtaacatccacaa	11	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187539012C>T	ENST00000441802.2	-	10	8937	c.8728G>A	c.(8728-8730)Gat>Aat	p.D2910N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2910	Cadherin 26. {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						TCGTTGACATCGGTGACGGTA	0.478										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.(8728-8730)Gat>Aat		FAT atypical cadherin 1							154	144	148					4																	187539012		2017	4178	6195	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.chr4:187539012C>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.8728G>A	4.37:g.187539012C>T	ENSP00000406229:p.Asp2910Asn	HNSCC(5;0.00058)	Somatic					p.D2910N	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	Q14517	FAT1_HUMAN			10	8937	-			2910			Cadherin 26.			Missense_Mutation	SNP	ENST00000441802.2	37	c.8728G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480400	0.63849	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.67698	-0.28	4.97	4.97	0.65823	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85075	0.5614	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87529	0.2451	10	0.72032	D	0.01	.	18.7858	0.91954	0.0:1.0:0.0:0.0	.	2910	Q14517	FAT1_HUMAN	N	2910;2912	ENSP00000406229:D2910N	ENSP00000260147:D2912N	D	-	1	0	FAT1	187776006	1.000000	0.71417	0.147000	0.22382	0.190000	0.23558	7.609000	0.82925	2.740000	0.93945	0.650000	0.86243	GAT		0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		12	71	0	0	0	1	0	12	71					T	187539012	C	T	187539012	3	4	48	1	0	0	0	0	1	0	0	0	5697	884	31	1	5110	1	FAT1	4	187539012	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	29080	187539012	3615264	1386	5854										
FAT1	2195	broad.mit.edu	37	chr4	187542357	187542357	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttatcagcatcagctgctcGaatcaccagtgggacattcc	8	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187542357G>A	ENST00000441802.2	-	10	5592	c.5383C>T	c.(5383-5385)Cga>Tga	p.R1795*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1795	Cadherin 16. {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						TCAGCTGCTCGAATCACCAGT	0.428										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.(5383-5385)Cga>Tga		FAT atypical cadherin 1							89	85	86					4																	187542357		1976	4165	6141	SO:0001587	stop_gained	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.chr4:187542357G>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.5383C>T	4.37:g.187542357G>A	ENSP00000406229:p.Arg1795*	HNSCC(5;0.00058)	Somatic					p.R1795*	NM_005245.3	NP_005236.2	WXS	Illumina GAIIx	Phase_I	Q14517	FAT1_HUMAN			10	5592	-			1795			Cadherin 16.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.5383C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	43	10.275781	0.99373	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.5	4.66	0.58398	.	0.122272	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	11.5588	0.50764	0.0:0.135:0.7245:0.1405	.	.	.	.	X	1795;1797	.	ENSP00000260147:R1797X	R	-	1	2	FAT1	187779351	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	5.448000	0.66612	1.556000	0.49512	-0.150000	0.13652	CGA		0.428	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		14	23	0	0	0	1	0	14	23					A	187542357	G	A	187542357	4	1	48	1	0	0	0	0	0	1	0	0	5697	1066	37	1	8455	1	FAT1	4	187542357	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3345	187542357	3611919	1387	5855										
TRIML2	205860	broad.mit.edu	37	chr4	189022278	189022278	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgcttgattcagaagggtttCtctcaggttcaagtcagata	10	8	5	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:189022278C>A	ENST00000512729.1	-	3	636	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	TRIML2_ENST00000326754.3_Nonsense_Mutation_p.E88*|TRIML2_ENST00000536972.1_Nonsense_Mutation_p.E138*	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	88					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGAAGGGTTTCTCTCAGGTTC	0.438																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(262-264)Gaa>Taa		tripartite motif family-like 2							142	134	137					4																	189022278		2203	4300	6503	SO:0001587	stop_gained	205860						ligase activity	g.chr4:189022278C>A	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.262G>T	4.37:g.189022278C>A	ENSP00000422581:p.Glu88*		Somatic				TRIML2_ENST00000326754.3_Nonsense_Mutation_p.E88*|TRIML2_ENST00000536972.1_Nonsense_Mutation_p.E138*	p.E88*	NM_173553.1	NP_775824.1	WXS	Illumina GAIIx	Phase_I	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	3	636	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	88					B7Z6J6	Nonsense_Mutation	SNP	ENST00000512729.1	37	c.262G>T	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963618	0.74016	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	.	.	.	5.23	2.55	0.30701	.	0.355323	0.20582	N	0.089519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	5.9754	0.19375	0.0:0.6686:0.1571:0.1743	.	.	.	.	X	88;88;138	.	ENSP00000317498:E88X	E	-	1	0	TRIML2	189259272	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.123000	0.15708	0.415000	0.25817	0.655000	0.94253	GAA		0.438	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		13	21	1	0	3.27435e-08	1	3.83577e-08	13	21					A	189022278	C	A	189022278	4	1	48	1	0	0	0	0	0	1	0	0	16566	922	32	2	921	2	TRIML2	4	189022278	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1479921	189022278	2131998	1388	5856										
TRIML1	339976	broad.mit.edu	37	chr4	189061694	189061694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattgcaggagaaactccagGaaatcctgaatcttttgcgt	9	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:189061694G>A	ENST00000332517.3	+	2	561	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	141					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAAACTCCAGGAAATCCTGAA	0.493																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(421-423)Gaa>Aaa		tripartite motif family-like 1							134	127	130					4																	189061694		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189061694G>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.421G>A	4.37:g.189061694G>A	ENSP00000327738:p.Glu141Lys		Somatic					p.E141K	NM_178556.3	NP_848651.2	WXS	Illumina GAIIx	Phase_I	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	2	561	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	141					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.421G>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	G	9.185	1.024586	0.19433	.	.	ENSG00000184108	ENST00000332517	T	0.61040	0.14	4.74	3.9	0.45041	.	0.569327	0.15915	N	0.238424	T	0.36138	0.0956	N	0.20304	0.555	0.20703	N	0.999861	B	0.16603	0.018	B	0.15870	0.014	T	0.19031	-1.0318	10	0.06494	T	0.89	-11.8991	9.5062	0.39048	0.1003:0.0:0.8997:0.0	.	141	Q8N9V2	TRIML_HUMAN	K	141	ENSP00000327738:E141K	ENSP00000327738:E141K	E	+	1	0	TRIML1	189298688	0.983000	0.35010	0.049000	0.19019	0.001000	0.01503	1.948000	0.40303	1.315000	0.45114	-0.136000	0.14681	GAA		0.493	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		17	35	0	0	0	1	0	17	35					A	189061694	G	A	189061694	3	1	48	1	0	0	0	0	1	0	0	0	16565	1175	41	3	427	3	TRIML1	4	189061694	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	39416	189061694	2092582	1389	5857										
SDHA	6389	broad.mit.edu	37	chr5	251454	251454	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaactttttgtgtccccaggAatggtctggaacacggacct	11	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:251454A>G	ENST00000264932.6	+	13	1780	c.1665A>G	c.(1663-1665)ggA>ggG	p.G555G	SDHA_ENST00000504309.1_Intron|SDHA_ENST00000510361.1_Splice_Site_p.G507G	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	555			G -> E (in MT-C2D and CMD1GG). {ECO:0000269|PubMed:12794685, ECO:0000269|PubMed:20551992}.		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)	TGTCCCCAGGAATGGTCTGGA	0.607									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.e13-1		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						13	18	17					5																	251454		2195	4274	6469	SO:0001630	splice_region_variant	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.chr5:251454A>G	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.1664-1A>G	5.37:g.251454A>G			Somatic				SDHA_ENST00000510361.1_Splice_Site_p.G507_splice|SDHA_ENST00000504309.1_Intron	p.G555_splice	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)		13	1780	+			555		G -> E (in MT-C2D and CMD1GG).			A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Splice_Site	SNP	ENST00000264932.6	37	c.1663_splice	CCDS3853.1																																																																																				0.607	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168	Silent	12	27	0	0	0	1	0	12	27					G	251454	A	G	251454	5	3	48	1	0	0	0	0	0	0	1	0	13978	260	9	4	1715	4	SDHA	5	251454	Splice_Site	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08		251454	180663806	1390	5858										
AHRR	57491	broad.mit.edu	37	chr5	353941	353941	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggccagcctgctgccgttCccgcctgacatcatctccaa	8	18	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:353941C>T	ENST00000505113.1	+	3	215	c.171C>T	c.(169-171)ttC>ttT	p.F57F	AHRR_ENST00000316418.5_Silent_p.F57F|AHRR_ENST00000515206.1_Silent_p.F53F|AHRR_ENST00000512529.1_Intron	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	57	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TGCTGCCGTTCCCGCCTGACA	0.622																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(169-171)ttC>ttT		aryl-hydrocarbon receptor repressor							93	106	102					5																	353941		2135	4237	6372	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:353941C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.171C>T	5.37:g.353941C>T			Somatic				AHRR_ENST00000505113.1_Silent_p.F57F|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000515206.1_Silent_p.F53F	p.F57F	NM_020731.4	NP_065782.2	WXS	Illumina GAIIx	Phase_I	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		3	215	+			57			Helix-loop-helix motif.		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.171C>T	CCDS56355.1																																																																																				0.622	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		20	55	0	0	0	1	0	20	55					T	353941	C	T	353941	2	4	48	1	0	0	0	0	0	0	0	1	417	854	30	3		3	AHRR	5	353941	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	102487	353941	180561319	1391	5859										
AHRR	57491	broad.mit.edu	37	chr5	354006	354006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctcagtgtcagttacctccGggtgaagagcttcttccaag	10	12	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:354006G>A	ENST00000505113.1	+	3	280	c.236G>A	c.(235-237)cGg>cAg	p.R79Q	AHRR_ENST00000316418.5_Missense_Mutation_p.R79Q|AHRR_ENST00000515206.1_Missense_Mutation_p.R75Q|AHRR_ENST00000512529.1_Intron	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	79	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AGTTACCTCCGGGTGAAGAGC	0.597																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(235-237)cGg>cAg		aryl-hydrocarbon receptor repressor							104	113	110					5																	354006		2115	4237	6352	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:354006G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.236G>A	5.37:g.354006G>A	ENSP00000424601:p.Arg79Gln		Somatic				AHRR_ENST00000505113.1_Missense_Mutation_p.R79Q|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000515206.1_Missense_Mutation_p.R75Q	p.R79Q	NM_020731.4	NP_065782.2	WXS	Illumina GAIIx	Phase_I	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		3	280	+			79			Helix-loop-helix motif.		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.236G>A	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	g	32	5.107625	0.94292	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000510400;ENST00000515206;ENST00000504625	D;D;D;D;D	0.97959	-4.63;-4.63;-4.63;-4.63;-4.63	4.95	4.95	0.65309	Helix-loop-helix DNA-binding (4);	0.064498	0.64402	D	0.000007	D	0.98137	0.9385	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.98254	1.0495	9	.	.	.	.	15.6613	0.77190	0.0:0.0:1.0:0.0	.	79;79	A9YTQ3;A9YTQ3-2	AHRR_HUMAN;.	Q	79;79;75;75;75	ENSP00000424601:R79Q;ENSP00000323816:R79Q;ENSP00000428893:R75Q;ENSP00000430842:R75Q;ENSP00000429944:R75Q	.	R	+	2	0	AHRR	407006	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.174000	0.94824	2.278000	0.76064	0.491000	0.48974	CGG		0.597	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		22	51	0	0	0	1	0	22	51					A	354006	G	A	354006	3	1	48	1	0	0	0	0	1	0	0	0	417	1116	39	1	246	1	AHRR	5	354006	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	65	354006	180561254	1392	5860										
SLC12A7	10723	broad.mit.edu	37	chr5	1057651	1057651	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgctcctgtacttctcagcGatcagcttctccctggtcca	7	16	3	0	rs139553130		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:1057651G>A	ENST00000264930.5	-	22	3004	c.2961C>T	c.(2959-2961)atC>atT	p.I987I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	987					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)	ACTTCTCAGCGATCAGCTTCT	0.612																																						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.(2959-2961)atC>atT		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	A		1,4405	825.6+/-416.5	0,1,2202	182	154	163		2961	-6.4	0	5	dbSNP_134	163	0,8600		0,0,4300	no	coding-synonymous	SLC12A7	NM_006598.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		987/1084	1057651	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1057651G>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.2961C>T	5.37:g.1057651G>A			Somatic					p.I987I	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)		22	3004	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		987					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.2961C>T	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.563924	0.00903	2.27E-4	0.0	ENSG00000113504	ENST00000513223	.	.	.	3.39	-6.43	0.01926	.	.	.	.	.	T	0.25865	0.0630	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23297	-1.0192	4	.	.	.	.	6.8812	0.24174	0.286:0.0:0.556:0.158	.	.	.	.	C	345	.	.	R	-	1	0	SLC12A7	1110651	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-5.139000	0.00147	-2.203000	0.00744	-2.858000	0.00101	CGC		0.612	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		75	123	0	0	0	1	0	75	123					A	1057651	G	A	1057651	2	1	48	1	0	0	0	0	0	0	0	1	14403	1048	37	1		1	SLC12A7	5	1057651	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	703645	1057651	179857609	1393	5861										
SLC6A18	348932	broad.mit.edu	37	chr5	1246126	1246126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagggacgcgcgcccagacaCggacatgcgcccggacacgg	15	16	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:1246126C>T	ENST00000324642.3	+	12	1943	c.1820C>T	c.(1819-1821)aCg>aTg	p.T607M		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	607					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)			CGCCCAGACACGGACATGCGC	0.736																																						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.(1819-1821)aCg>aTg		solute carrier family 6 (neutral amino acid transporter), member 18							13	17	16					5																	1246126		2190	4276	6466	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1246126C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1820C>T	5.37:g.1246126C>T	ENSP00000323549:p.Thr607Met		Somatic					p.T607M	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)		12	1943	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		607						Missense_Mutation	SNP	ENST00000324642.3	37	c.1820C>T	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302484	0.23736	.	.	ENSG00000164363	ENST00000324642	T	0.74632	-0.86	1.32	0.183	0.15082	.	7739.210000	0.00582	U	0.000333	T	0.53626	0.1808	N	0.08118	0	0.22701	N	0.998837	B	0.25235	0.121	B	0.06405	0.002	T	0.43814	-0.9368	10	0.45353	T	0.12	.	4.5561	0.12136	0.0:0.7255:0.0:0.2745	.	607	Q96N87	S6A18_HUMAN	M	607	ENSP00000323549:T607M	ENSP00000323549:T607M	T	+	2	0	SLC6A18	1299126	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.494000	0.06451	-0.252000	0.09528	0.121000	0.15741	ACG		0.736	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		3	12	0	0	0	1	0	3	12					T	1246126	C	T	1246126	3	4	48	1	0	0	0	0	1	0	0	0	14696	536	19	1	1866	1	SLC6A18	5	1246126	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	188475	1246126	179669134	1394	5862										
SLC6A3	6531	broad.mit.edu	37	chr5	1420693	1420693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgtactcacagacgcctcGcagagccggtagaagtcaac	10	13	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:1420693G>A	ENST00000270349.9	-	6	1045	c.918C>T	c.(916-918)tgC>tgT	p.C306C	SLC6A3_ENST00000453492.2_Silent_p.C306C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	306					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)	CAGACGCCTCGCAGAGCCGGT	0.592																																						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.(916-918)tgC>tgT		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)						120	108	112					5																	1420693		2203	4300	6503	SO:0001819	synonymous_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1420693G>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.918C>T	5.37:g.1420693G>A			Somatic				SLC6A3_ENST00000453492.2_Silent_p.C306C	p.C306C	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)		6	1045	-			306					A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	c.918C>T	CCDS3863.1																																																																																				0.592	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		49	88	0	0	0	1	0	49	88					A	1420693	G	A	1420693	2	1	48	1	0	0	0	0	0	0	0	1	14700	1079	38	1		1	SLC6A3	5	1420693	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	174567	1420693	179494567	1395	5863										
IRX4	50805	broad.mit.edu	37	chr5	1878497	1878499	+	In_Frame_Del	DEL	GGC	GGC	-													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagtctggctcagggaggtGgcggcggcggcggcggcggt					rs570462700	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:1878497_1878499delGGC	ENST00000505790.1	-	6	1600_1602	c.1144_1146delGCC	c.(1144-1146)gccdel	p.A382del	IRX4_ENST00000513692.1_In_Frame_Del_p.A382del|IRX4_ENST00000505938.1_5'Flank|IRX4_ENST00000231357.2_In_Frame_Del_p.A382del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	382	Poly-Ala.				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)		TCAGGGAggtggcggcggcggcg	0.739																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(1144-1146)del		iroquois homeobox 4				23,21,1962		8,0,7,8,5,975							0.6			4	3,77,4640		1,0,1,12,53,2293	no	codingComplex	IRX4	NM_016358.2		9,0,8,20,58,3268	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6949,2.1934,1.8436				26,98,6602				SO:0001651	inframe_deletion	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1878497_1878499delGGC	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.1144_1146delGCC	5.37:g.1878506_1878508delGGC	ENSP00000423161:p.Ala382del		Somatic				IRX4_ENST00000231357.2_In_Frame_Del_p.A382del|IRX4_ENST00000513692.1_In_Frame_Del_p.A382del	p.A382del	NM_001278634.1	NP_001265563.1	WXS	Illumina GAIIx	Phase_I	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	6	1600_1602	-			382			Poly-Ala.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	ENST00000505790.1	37	c.1144_1146delGCC	CCDS3867.1																																																																																				0.739	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		2	4						2	4	---	---	---	---	-	1878499	GGC	-	1878497	7	5	48	1	0	1	0	1	0	0	0	0	7855	1335	47	0	417	0	IRX4	5	1878497	In_Frame_Del	DEL	GGC	TCGA-ND-A4WC-01A-21D-A28R-08	457804	1878497	179036763	1396	5864										
ADAMTS16	170690	broad.mit.edu	37	chr5	5146327	5146327	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaccatcagcggcggagaaGagcagtgcccgtgtccgagg	16	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:5146327G>T	ENST00000274181.7	+	3	398	c.260G>T	c.(259-261)aGa>aTa	p.R87I	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R87I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	87					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						CGGCGGAGAAGAGCAGTGCCC	0.542																																						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.(259-261)aGa>aTa		ADAM metallopeptidase with thrombospondin type 1 motif, 16							63	63	63					5																	5146327		2040	4187	6227	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5146327G>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.260G>T	5.37:g.5146327G>T	ENSP00000274181:p.Arg87Ile		Somatic				ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R87I|CTD-2297D10.1_ENST00000514848.1_RNA	p.R87I	NM_139056.2	NP_620687.2	WXS	Illumina GAIIx	Phase_I	Q8TE57	ATS16_HUMAN			3	398	+			87					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.260G>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298170	0.60195	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.06768	3.26;3.26	5.55	5.55	0.83447	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.38746	0.1052	M	0.90425	3.115	0.53688	D	0.999978	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.998	T	0.40346	-0.9568	10	0.87932	D	0	.	18.6279	0.91347	0.0:0.0:1.0:0.0	.	87;87;87	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	I	87	ENSP00000274181:R87I;ENSP00000421631:R87I	ENSP00000274181:R87I	R	+	2	0	ADAMTS16	5199327	1.000000	0.71417	0.008000	0.14137	0.048000	0.14542	5.772000	0.68889	2.767000	0.95098	0.563000	0.77884	AGA		0.542	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		18	52	1	0	7.07596e-05	1	7.68259e-05	18	52					T	5146327	G	T	5146327	3	4	48	1	0	0	0	0	1	0	0	0	261	942	33	2	270	2	ADAMTS16	5	5146327	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3267830	5146327	175768933	1397	5865										
ADAMTS16	170690	broad.mit.edu	37	chr5	5262810	5262810	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggctgctacagagacctgaaGtttcaagtaaatatgtcctt	9	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:5262810G>T	ENST00000274181.7	+	18	2841	c.2703G>T	c.(2701-2703)aaG>aaT	p.K901N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	901	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAGACCTGAAGTTTCAAGTAA	0.502																																						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.(2701-2703)aaG>aaT		ADAM metallopeptidase with thrombospondin type 1 motif, 16							102	107	105					5																	5262810		1970	4147	6117	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5262810G>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2703G>T	5.37:g.5262810G>T	ENSP00000274181:p.Lys901Asn		Somatic					p.K901N	NM_139056.2	NP_620687.2	WXS	Illumina GAIIx	Phase_I	Q8TE57	ATS16_HUMAN			18	2841	+			901			TSP type-1 2.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2703G>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.783436	0.00628	.	.	ENSG00000145536	ENST00000274181	T	0.61040	0.14	5.41	-1.08	0.09936	.	0.301114	0.29515	N	0.011931	T	0.23410	0.0566	N	0.11427	0.14	0.09310	N	0.999998	B;B	0.29341	0.242;0.002	B;B	0.21708	0.036;0.008	T	0.24048	-1.0171	10	0.06757	T	0.87	.	3.5397	0.07807	0.3236:0.0:0.2805:0.3959	.	901;901	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	N	901	ENSP00000274181:K901N	ENSP00000274181:K901N	K	+	3	2	ADAMTS16	5315810	0.001000	0.12720	0.001000	0.08648	0.403000	0.30841	-0.478000	0.06575	-0.038000	0.13624	-0.150000	0.13652	AAG		0.502	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		19	39	1	0	3.32936e-07	1	3.80431e-07	19	39					T	5262810	G	T	5262810	3	4	48	1	0	0	0	0	1	0	0	0	261	1020	36	5	2773	5	ADAMTS16	5	5262810	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	116483	5262810	175652450	1398	5866										
NSUN2	54888	broad.mit.edu	37	chr5	6607343	6607343	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catctttcttactgccattaTtctctaaatcctcagttgca	3	12	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:6607343T>G	ENST00000264670.6	-	13	1789	c.1478A>C	c.(1477-1479)aAt>aCt	p.N493T	NSUN2_ENST00000539938.1_Missense_Mutation_p.N257T|NSUN2_ENST00000506139.1_Missense_Mutation_p.N458T	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	493					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ACTGCCATTATTCTCTAAATC	0.438																																						ENST00000264670.6																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1477-1479)aAt>aCt		NOP2/Sun RNA methyltransferase family, member 2							294	291	292					5																	6607343		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6607343T>G	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"NOP2/Sun domain containing"	25994	protein-coding gene	gene with protein product	"tRNA methyltransferase 4 homolog (S. cerevisiae)", "Myc-induced SUN-domain-containing protein"	610916	"NOL1/NOP2/Sun domain family, member 2", "NOP2/Sun domain family, member 2", "mental retardation, non-syndromic, autosomal recessive, 5"	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1478A>C	5.37:g.6607343T>G	ENSP00000264670:p.Asn493Thr		Somatic				NSUN2_ENST00000539938.1_Missense_Mutation_p.N257T|NSUN2_ENST00000506139.1_Missense_Mutation_p.N458T	p.N493T	NM_017755.5	NP_060225.4	WXS	Illumina GAIIx	Phase_I	Q08J23	NSUN2_HUMAN			13	1789	-			493					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.1478A>C	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.936943	0.52972	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.55234	1.26;0.53;1.26	5.0	-8.67	0.00863	.	1.035330	0.07485	N	0.904633	T	0.25082	0.0609	N	0.15975	0.35	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.06405	0.001;0.002	T	0.16897	-1.0387	10	0.16420	T	0.52	-8.3122	6.6795	0.23113	0.1043:0.5219:0.2126:0.1612	.	458;493	B4DQW2;Q08J23	.;NSUN2_HUMAN	T	493;257;458	ENSP00000264670:N493T;ENSP00000444338:N257T;ENSP00000420957:N458T	ENSP00000264670:N493T	N	-	2	0	NSUN2	6660343	0.000000	0.05858	0.000000	0.03702	0.852000	0.48524	-1.211000	0.02997	-1.317000	0.02292	-0.274000	0.10170	AAT		0.438	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		69	136	0	0	0	1	0	69	136					G	6607343	T	G	6607343	3	3	48	1	0	0	0	0	1	0	0	0	10687	1493	52	4	853	4	NSUN2	5	6607343	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1344533	6607343	174307917	1399	5867										
ADCY2	108	broad.mit.edu	37	chr5	7784477	7784477	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtctgtctgttttttaataGaccaggcatttggaaagacc	9	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:7784477G>T	ENST00000338316.4	+	19	2473		c.e19-1		ADCY2_ENST00000537121.1_Splice_Site	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)						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						TTTTTTAATAGACCAGGCATT	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.e19-1		adenylate cyclase 2 (brain)							158	144	149					5																	7784477		2203	4300	6503	SO:0001630	splice_region_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.chr5:7784477G>T	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.2385-1G>T	5.37:g.7784477G>T			Somatic				ADCY2_ENST00000537121.1_Splice_Site		NM_020546.2	NP_065433.2	WXS	Illumina GAIIx	Phase_I	Q08462	ADCY2_HUMAN			19	2473	+								B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Splice_Site	SNP	ENST00000338316.4	37		CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490925	0.64074	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	.	.	.	5.67	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8757	0.86051	0.0:0.1283:0.8717:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADCY2	7837477	1.000000	0.71417	0.988000	0.46212	0.881000	0.50899	7.398000	0.79919	1.397000	0.46682	-0.195000	0.12781	.		0.393	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	Intron	9	23	1	0	3.09899e-07	1	3.54467e-07	9	23					T	7784477	G	T	7784477	5	4	48	1	0	0	0	0	0	0	1	0	294	956	33	2	2458	2	ADCY2	5	7784477	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1177134	7784477	173130783	1400	5868										
ADCY2	108	broad.mit.edu	37	chr5	7817025	7817025	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggcaccatggtggagtttgCttttgccctggtagggaagc	15	8	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:7817025C>A	ENST00000338316.4	+	23	3019	c.2930C>A	c.(2929-2931)gCt>gAt	p.A977D	ADCY2_ENST00000537121.1_Missense_Mutation_p.A797D	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	977					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						GTGGAGTTTGCTTTTGCCCTG	0.507											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(2929-2931)gCt>gAt		adenylate cyclase 2 (brain)							211	166	181					5																	7817025		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.chr5:7817025C>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.2930C>A	5.37:g.7817025C>A	ENSP00000342952:p.Ala977Asp		Somatic	OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	ADCY2_ENST00000537121.1_Missense_Mutation_p.A797D	p.A977D	NM_020546.2	NP_065433.2	WXS	Illumina GAIIx	Phase_I	Q08462	ADCY2_HUMAN			23	3019	+			977					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2930C>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592190	0.86953	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.58940	0.3;0.3	5.53	5.53	0.82687	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.86410	0.5926	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91542	0.5250	10	0.87932	D	0	.	19.4679	0.94950	0.0:1.0:0.0:0.0	.	797;977	B7Z2C1;Q08462	.;ADCY2_HUMAN	D	977;130;810;797	ENSP00000342952:A977D;ENSP00000444803:A797D	ENSP00000342952:A977D	A	+	2	0	ADCY2	7870025	1.000000	0.71417	0.556000	0.28293	0.531000	0.34715	7.539000	0.82063	2.617000	0.88574	0.561000	0.74099	GCT		0.507	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		19	51	1	0	5.35267e-07	1	6.09026e-07	19	51					A	7817025	C	A	7817025	3	1	48	1	0	0	0	0	1	0	0	0	294	797	28	5	3020	5	ADCY2	5	7817025	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	32548	7817025	173098235	1401	5869										
MTRR	4552	broad.mit.edu	37	chr5	7870968	7870968	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggcaaaggccatcgcagaaGaaatatgtgagcaagctgtg	13	7	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:7870968G>A	ENST00000264668.2	+	2	172	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	MTRR_ENST00000440940.2_Missense_Mutation_p.E21K|MTRR_ENST00000341013.6_Missense_Mutation_p.E21K|FASTKD3_ENST00000513658.1_5'Flank|FASTKD3_ENST00000264669.5_5'Flank|MTRR_ENST00000502509.1_Intron	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	48	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CATCGCAGAAGAAATATGTGA	0.428																																						ENST00000264668.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31						c.(142-144)Gaa>Aaa		5-methyltetrahydrofolate-homocysteine methyltransferase reductase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						159	146	150					5																	7870968		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7870968G>A	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.142G>A	5.37:g.7870968G>A	ENSP00000264668:p.Glu48Lys		Somatic				MTRR_ENST00000440940.2_Missense_Mutation_p.E21K|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_Missense_Mutation_p.E21K	p.E48K	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	WXS	Illumina GAIIx	Phase_I	Q9UBK8	MTRR_HUMAN			2	172	+			48			Flavodoxin-like.		O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.142G>A	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	G	34	5.358392	0.95854	.	.	ENSG00000124275	ENST00000264668;ENST00000341013;ENST00000440940;ENST00000502550;ENST00000506877;ENST00000512217	T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.69	5.69	0.88448	Flavodoxin/nitric oxide synthase (2);	0.212430	0.49305	D	0.000148	T	0.75406	0.3845	L	0.31065	0.9	0.53005	D	0.999961	D	0.76494	0.999	D	0.72075	0.976	T	0.67647	-0.5617	10	0.10377	T	0.69	-19.1718	19.8119	0.96549	0.0:0.0:1.0:0.0	.	48	Q9UBK8	MTRR_HUMAN	K	48;21;21;21;21;21	ENSP00000264668:E48K;ENSP00000341918:E21K;ENSP00000402510:E21K;ENSP00000424599:E21K;ENSP00000427416:E21K;ENSP00000421318:E21K	ENSP00000264668:E48K	E	+	1	0	MTRR	7923968	1.000000	0.71417	0.266000	0.24541	0.858000	0.48976	7.928000	0.87587	2.664000	0.90586	0.655000	0.94253	GAA		0.428	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			6	62	0	0	0	1	0	6	62					A	7870968	G	A	7870968	3	1	48	1	0	0	0	0	1	0	0	0	9970	943	33	3	148	3	MTRR	5	7870968	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	53943	7870968	173044292	1402	5870										
MTRR	4552	broad.mit.edu	37	chr5	7873611	7873611	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaacactgccggttgatttCtttgctcacctgcggtatgg	10	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:7873611C>A	ENST00000264668.2	+	3	366	c.336C>A	c.(334-336)ttC>ttA	p.F112L	MTRR_ENST00000440940.2_Missense_Mutation_p.F85L|MTRR_ENST00000341013.6_Intron|MTRR_ENST00000502509.1_Intron	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	112	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CGGTTGATTTCTTTGCTCACC	0.448																																						ENST00000264668.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31						c.(334-336)ttC>ttA		5-methyltetrahydrofolate-homocysteine methyltransferase reductase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						144	148	147					5																	7873611		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7873611C>A	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.336C>A	5.37:g.7873611C>A	ENSP00000264668:p.Phe112Leu		Somatic				MTRR_ENST00000440940.2_Missense_Mutation_p.F85L|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_Intron	p.F112L	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	WXS	Illumina GAIIx	Phase_I	Q9UBK8	MTRR_HUMAN			3	366	+			112			Flavodoxin-like.		O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.336C>A	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448741	0.26074	.	.	ENSG00000124275	ENST00000264668;ENST00000440940;ENST00000502550;ENST00000512217	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.67	2.82	0.32997	Flavodoxin/nitric oxide synthase (2);	0.625524	0.17076	N	0.187966	T	0.44871	0.1314	N	0.12853	0.265	0.09310	N	0.999999	B	0.13145	0.007	B	0.12156	0.007	T	0.21965	-1.0230	10	0.11485	T	0.65	-5.7349	5.3155	0.15852	0.0:0.5669:0.1513:0.2818	.	112	Q9UBK8	MTRR_HUMAN	L	112;85;85;85	ENSP00000264668:F112L;ENSP00000402510:F85L;ENSP00000424599:F85L;ENSP00000421318:F85L	ENSP00000264668:F112L	F	+	3	2	MTRR	7926611	0.012000	0.17670	0.075000	0.20258	0.997000	0.91878	0.545000	0.23268	0.691000	0.31592	0.655000	0.94253	TTC		0.448	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			30	55	1	0	5.77227e-19	1	7.83808e-19	30	55					A	7873611	C	A	7873611	3	1	48	1	0	0	0	0	1	0	0	0	9970	912	32	2	346	2	MTRR	5	7873611	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2643	7873611	173041649	1403	5871										
SEMA5A	9037	broad.mit.edu	37	chr5	9154778	9154778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcttgaggtctgattcagggGtacccgcactttcttaatgg	12	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:9154778G>A	ENST00000382496.5	-	12	1968	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	435	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGATTCAGGGGTACCCGCACT	0.512																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(1303-1305)Ccc>Tcc		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							94	91	92					5																	9154778		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9154778G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1303C>T	5.37:g.9154778G>A	ENSP00000371936:p.Pro435Ser		Somatic					p.P435S	NM_003966.2	NP_003957.2	WXS	Illumina GAIIx	Phase_I	Q13591	SEM5A_HUMAN			12	1968	-			435			Sema.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.1303C>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989248	0.53934	.	.	ENSG00000112902	ENST00000382496	T	0.09630	2.96	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.10937	0.0267	N	0.25060	0.705	0.58432	D	0.999998	P	0.47910	0.902	P	0.47251	0.542	T	0.08351	-1.0726	10	0.36615	T	0.2	.	12.0815	0.53673	0.0:0.0:0.8282:0.1718	.	435	Q13591	SEM5A_HUMAN	S	435	ENSP00000371936:P435S	ENSP00000371936:P435S	P	-	1	0	SEMA5A	9207778	1.000000	0.71417	0.559000	0.28332	0.239000	0.25481	7.348000	0.79366	2.646000	0.89796	0.591000	0.81541	CCC		0.512	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			35	54	0	0	0	1	0	35	54					A	9154778	G	A	9154778	3	1	48	1	0	0	0	0	1	0	0	0	14052	1261	44	3	1969	3	SEMA5A	5	9154778	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1281167	9154778	171760482	1404	5872										
CTNND2	1501	broad.mit.edu	37	chr5	11018149	11018149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgaggacctgagatgcagcCttgaccacttttggagagtg	13	8	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:11018149C>T	ENST00000304623.8	-	18	3210	c.3021G>A	c.(3019-3021)aaG>aaA	p.K1007K	CTNND2_ENST00000511377.1_Silent_p.K916K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.K949K|CTNND2_ENST00000503622.1_Silent_p.K670K|CTNND2_ENST00000458100.2_Silent_p.K574K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1007					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						GAGATGCAGCCTTGACCACTT	0.473																																						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.(3019-3021)aaG>aaA		catenin (cadherin-associated protein), delta 2							134	121	126					5																	11018149		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:11018149C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3021G>A	5.37:g.11018149C>T			Somatic				CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.K916K|CTNND2_ENST00000458100.2_Silent_p.K574K|CTNND2_ENST00000359640.2_Silent_p.K949K|CTNND2_ENST00000503622.1_Silent_p.K670K	p.K1007K	NM_001332.2	NP_001323.1	WXS	Illumina GAIIx	Phase_I	Q9UQB3	CTND2_HUMAN			18	3210	-			1007					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.3021G>A	CCDS3881.1																																																																																				0.473	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		7	35	0	0	0	1	0	7	35					T	11018149	C	T	11018149	2	4	48	1	0	0	0	0	0	0	0	1	4022	680	24	3		3	CTNND2	5	11018149	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1863371	11018149	169897111	1405	5873										
DNAH5	1767	broad.mit.edu	37	chr5	13753382	13753382	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttatttttaatccagatcTtgccttgagtctgtggatca	7	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13753382T>C	ENST00000265104.4	-	63	10936	c.10832A>G	c.(10831-10833)aAg>aGg	p.K3611R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3611	AAA 5. {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)					AATCCAGATCTTGCCTTGAGT	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.(10831-10833)aAg>aGg		dynein, axonemal, heavy chain 5							85	79	81					5																	13753382		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.chr5:13753382T>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.10832A>G	5.37:g.13753382T>C	ENSP00000265104:p.Lys3611Arg		Somatic					p.K3611R	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			63	10936	-	Lung NSC(4;0.00476)		3611			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10832A>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.964568	0.92791	.	.	ENSG00000039139	ENST00000265104	T	0.21734	1.99	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	M	0.67517	2.055	0.80722	D	1	P	0.49253	0.921	P	0.61328	0.887	T	0.10042	-1.0647	10	0.20046	T	0.44	.	16.1327	0.81454	0.0:0.0:0.0:1.0	.	3611	Q8TE73	DYH5_HUMAN	R	3611	ENSP00000265104:K3611R	ENSP00000265104:K3611R	K	-	2	0	DNAH5	13806382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.606000	0.82863	2.269000	0.75478	0.454000	0.30748	AAG		0.368	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		21	38	0	0	0	1	0	21	38					C	13753382	T	C	13753382	3	2	48	1	0	0	0	0	1	0	0	0	4606	1609	56	4	3110	4	DNAH5	5	13753382	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2735233	13753382	167161878	1406	5874										
DNAH5	1767	broad.mit.edu	37	chr5	13753429	13753429	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaagggtaacgagatgccttCgtgacaataattccattttg	9	7	0	2	rs144055129		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13753429C>T	ENST00000265104.4	-	63	10889	c.10785G>A	c.(10783-10785)acG>acA	p.T3595T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3595	AAA 5. {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)					GAGATGCCTTCGTGACAATAA	0.383									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.(10783-10785)acG>acA		dynein, axonemal, heavy chain 5		C		1,4405	2.1+/-5.4	0,1,2202	118	108	112		10785	-1.5	1	5	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH5	NM_001369.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		3595/4625	13753429	2,13004	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.chr5:13753429C>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.10785G>A	5.37:g.13753429C>T			Somatic					p.T3595T	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			63	10889	-	Lung NSC(4;0.00476)		3595			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.10785G>A	CCDS3882.1																																																																																				0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		5	59	0	0	0	1	0	5	59					T	13753429	C	T	13753429	2	4	48	1	0	0	0	0	0	0	0	1	4606	871	31	1		1	DNAH5	5	13753429	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	47	13753429	167161831	1407	5875										
DNAH5	1767	broad.mit.edu	37	chr5	13766094	13766094	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaactaccaacctgtaagttCtgtaaaaagttccctgcagt	7	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13766094C>T	ENST00000265104.4	-	59	10196	c.10092G>A	c.(10090-10092)caG>caA	p.Q3364Q	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3364	Stalk. {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)					CCTGTAAGTTCTGTAAAAAGT	0.408									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.(10090-10092)caG>caA		dynein, axonemal, heavy chain 5							115	117	116					5																	13766094		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.chr5:13766094C>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.10092G>A	5.37:g.13766094C>T			Somatic				DNAH5_ENST00000504001.3_Intron	p.Q3364Q	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			59	10196	-	Lung NSC(4;0.00476)		3364			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.10092G>A	CCDS3882.1																																																																																				0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		45	69	0	0	0	1	0	45	69					T	13766094	C	T	13766094	2	4	48	1	0	0	0	0	0	0	0	1	4606	912	32	3		3	DNAH5	5	13766094	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	12665	13766094	167149166	1408	5876										
DNAH5	1767	broad.mit.edu	37	chr5	13866373	13866373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcttcctggggcttcaagcCgctagccattggaccattct	11	13	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13866373C>T	ENST00000265104.4	-	26	4176	c.4072G>A	c.(4072-4074)Ggc>Agc	p.G1358S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1358	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)					GGCTTCAAGCCGCTAGCCATT	0.318									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.(4072-4074)Ggc>Agc		dynein, axonemal, heavy chain 5							24	30	28					5																	13866373		2195	4295	6490	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.chr5:13866373C>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.4072G>A	5.37:g.13866373C>T	ENSP00000265104:p.Gly1358Ser		Somatic				CTB-51A17.1_ENST00000503244.1_RNA	p.G1358S	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			26	4176	-	Lung NSC(4;0.00476)		1358			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.4072G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929166	0.92389	.	.	ENSG00000039139	ENST00000265104	T	0.23147	1.92	5.9	5.03	0.67393	.	0.052102	0.85682	D	0.000000	T	0.55305	0.1912	M	0.90369	3.11	0.80722	D	1	D	0.65815	0.995	P	0.61658	0.892	T	0.65529	-0.6146	10	0.56958	D	0.05	.	14.9099	0.70749	0.0:0.9318:0.0:0.0682	.	1358	Q8TE73	DYH5_HUMAN	S	1358	ENSP00000265104:G1358S	ENSP00000265104:G1358S	G	-	1	0	DNAH5	13919373	1.000000	0.71417	0.776000	0.31678	0.896000	0.52359	7.413000	0.80104	1.496000	0.48567	0.650000	0.86243	GGC		0.318	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		10	12	0	0	0	1	0	10	12					T	13866373	C	T	13866373	3	4	48	1	0	0	0	0	1	0	0	0	4606	652	23	1	10018	1	DNAH5	5	13866373	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	100279	13866373	167048887	1409	5877										
DNAH5	1767	broad.mit.edu	37	chr5	13871097	13871097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttgtctcagcagtcagggCgaacttcaagtcagctgtaa	10	10	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13871097C>T	ENST00000265104.4	-	24	3717	c.3613G>A	c.(3613-3615)Gcc>Acc	p.A1205T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1205	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)					GCAGTCAGGGCGAACTTCAAG	0.403									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.(3613-3615)Gcc>Acc		dynein, axonemal, heavy chain 5							78	79	78					5																	13871097		2202	4299	6501	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.chr5:13871097C>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.3613G>A	5.37:g.13871097C>T	ENSP00000265104:p.Ala1205Thr		Somatic				CTB-51A17.1_ENST00000503244.1_RNA	p.A1205T	NM_001369.2	NP_001360.1	WXS	Illumina GAIIx	Phase_I	Q8TE73	DYH5_HUMAN			24	3717	-	Lung NSC(4;0.00476)		1205			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.3613G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	7.103	0.574570	0.13623	.	.	ENSG00000039139	ENST00000265104	T	0.24538	1.85	5.84	-0.97	0.10306	.	0.252609	0.40554	N	0.001072	T	0.19604	0.0471	L	0.53249	1.67	0.25648	N	0.986122	B	0.11235	0.004	B	0.12837	0.008	T	0.19647	-1.0299	10	0.29301	T	0.29	.	7.7442	0.28858	0.4776:0.4316:0.0:0.0908	.	1205	Q8TE73	DYH5_HUMAN	T	1205	ENSP00000265104:A1205T	ENSP00000265104:A1205T	A	-	1	0	DNAH5	13924097	0.400000	0.25295	0.002000	0.10522	0.060000	0.15804	0.779000	0.26746	-0.541000	0.06257	-0.152000	0.13540	GCC		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		14	36	0	0	0	1	0	14	36					T	13871097	C	T	13871097	3	4	48	1	0	0	0	0	1	0	0	0	4606	768	27	1	10485	1	DNAH5	5	13871097	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4724	13871097	167044163	1410	5878										
FAM105A	54491	broad.mit.edu	37	chr5	14607452	14607452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttcaagcttcctgaaaaacTgctgttttcacaaggttgta	7	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:14607452T>C	ENST00000274217.3	+	6	632	c.512T>C	c.(511-513)cTg>cCg	p.L171P		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	171	OTU.									large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CCTGAAAAACTGCTGTTTTCA	0.378																																						ENST00000274217.3																			0				large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(511-513)cTg>cCg		family with sequence similarity 105, member A							135	134	134					5																	14607452		2203	4300	6503	SO:0001583	missense	54491							g.chr5:14607452T>C		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.512T>C	5.37:g.14607452T>C	ENSP00000274217:p.Leu171Pro		Somatic					p.L171P	NM_019018.2	NP_061891.1	WXS	Illumina GAIIx	Phase_I	Q9NUU6	F105A_HUMAN			6	632	+	Lung NSC(4;0.00592)		171					Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	37	c.512T>C	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.152250	0.78001	.	.	ENSG00000145569	ENST00000274217	T	0.20200	2.09	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000009	T	0.49236	0.1545	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53542	-0.8424	10	0.87932	D	0	-16.021	15.8892	0.79279	0.0:0.0:0.0:1.0	.	171	Q9NUU6	F105A_HUMAN	P	171	ENSP00000274217:L171P	ENSP00000274217:L171P	L	+	2	0	FAM105A	14660452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.478000	0.66806	2.149000	0.67028	0.533000	0.62120	CTG		0.378	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		23	35	0	0	0	1	0	23	35					C	14607452	T	C	14607452	3	2	48	1	0	0	0	0	1	0	0	0	5392	1580	55	4	534	4	FAM105A	5	14607452	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	736355	14607452	166307808	1411	5879										
FAM105B	90268	broad.mit.edu	37	chr5	14690293	14690293	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattgaactatataatgataAagagaaaggaaaggaagtac	9	3	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:14690293A>T	ENST00000284274.4	+	6	818	c.740A>T	c.(739-741)aAa>aTa	p.K247I		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		247	OTU.				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)					TATAATGATAAAGAGAAAGGA	0.413																																						ENST00000284274.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(739-741)aAa>aTa		family with sequence similarity 105, member B							80	78	79					5																	14690293		1866	4103	5969	SO:0001583	missense	90268							g.chr5:14690293A>T																												ENST00000284274.4:c.740A>T	5.37:g.14690293A>T	ENSP00000284274:p.Lys247Ile		Somatic					p.K247I	NM_138348.4	NP_612357.4	WXS	Illumina GAIIx	Phase_I	Q96BN8	F105B_HUMAN			6	818	+	Lung NSC(4;0.00696)		247					D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	ENST00000284274.4	37	c.740A>T	CCDS43302.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.534323	0.64972	.	.	ENSG00000154124	ENST00000284274	T	0.19532	2.14	5.96	3.41	0.39046	.	0.232368	0.49916	D	0.000126	T	0.15349	0.0370	L	0.34521	1.04	0.27274	N	0.958298	P	0.37636	0.603	B	0.40009	0.316	T	0.14587	-1.0467	10	0.16420	T	0.52	-17.8537	8.3701	0.32410	0.8158:0.0:0.1842:0.0	.	247	Q96BN8	F105B_HUMAN	I	247	ENSP00000284274:K247I	ENSP00000284274:K247I	K	+	2	0	FAM105B	14743293	1.000000	0.71417	0.526000	0.27913	0.987000	0.75469	2.926000	0.48892	0.411000	0.25702	0.533000	0.62120	AAA		0.413	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1			16	31	0	0	0	1	0	16	31					T	14690293	A	T	14690293	3	4	48	1	0	0	0	0	1	0	0	0	5393	14	1	4	762	4	FAM105B	5	14690293	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	82841	14690293	166224967	1412	5880										
MYO10	4651	broad.mit.edu	37	chr5	16701878	16701878	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttctgtttctccagttcacGggtcagttcagcttccttct	7	13	6	0	rs540391150		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:16701878G>A	ENST00000513610.1	-	25	3080	c.2626C>T	c.(2626-2628)Cgt>Tgt	p.R876C	MYO10_ENST00000505695.1_Missense_Mutation_p.R215C|MYO10_ENST00000427430.2_Missense_Mutation_p.R233C|MYO10_ENST00000515803.1_Missense_Mutation_p.R215C|MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000274203.9_Missense_Mutation_p.R233C	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	876					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCAGTTCACGGGTCAGTTCA	0.507																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(2626-2628)Cgt>Tgt		myosin X							54	54	54					5																	16701878		1964	4161	6125	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16701878G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2626C>T	5.37:g.16701878G>A	ENSP00000421280:p.Arg876Cys		Somatic				MYO10_ENST00000427430.2_Missense_Mutation_p.R233C|MYO10_ENST00000505695.1_Missense_Mutation_p.R215C|MYO10_ENST00000274203.9_Missense_Mutation_p.R233C|MYO10_ENST00000515803.1_Missense_Mutation_p.R215C	p.R876C	NM_012334.2	NP_036466.2	WXS	Illumina GAIIx	Phase_I	Q9HD67	MYO10_HUMAN			25	3080	-			876					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.2626C>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	9.262	1.043358	0.19748	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	5.0	2.17	0.27698	.	.	.	.	.	T	0.04318	0.0119	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41342	-0.9514	9	0.33141	T	0.24	.	5.9175	0.19063	0.1442:0.0:0.5918:0.264	.	517;876	Q69YP8;Q9HD67	.;MYO10_HUMAN	C	876;215;233;215;233	ENSP00000421280:R876C;ENSP00000425051:R215C;ENSP00000274203:R233C;ENSP00000421170:R215C;ENSP00000391106:R233C	ENSP00000274203:R233C	R	-	1	0	MYO10	16754878	0.042000	0.20092	0.106000	0.21319	0.825000	0.46686	1.447000	0.35101	0.490000	0.27771	0.563000	0.77884	CGT		0.507	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		15	30	0	0	0	1	0	15	30					A	16701878	G	A	16701878	3	1	48	1	0	0	0	0	1	0	0	0	10071	1116	39	1	3618	1	MYO10	5	16701878	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2011585	16701878	164213382	1413	5881										
PRDM9	56979	broad.mit.edu	37	chr5	23522975	23522975	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaagacgaagaggcagccaAcaatggatactcctggctgg	13	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:23522975A>G	ENST00000296682.3	+	8	1045	c.863A>G	c.(862-864)aAc>aGc	p.N288S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	288	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			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						GAGGCAGCCAACAATGGATAC	0.527										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.(862-864)aAc>aGc		PR domain containing 9							76	79	78					5																	23522975		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522975A>G	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.863A>G	5.37:g.23522975A>G	ENSP00000296682:p.Asn288Ser	HNSCC(3;0.000094)	Somatic					p.N288S	NM_020227.2	NP_064612.2	WXS	Illumina GAIIx	Phase_I	Q9NQV7	PRDM9_HUMAN			8	1045	+			288			SET.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.863A>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	4.037	0.004417	0.07866	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.78003	-1.14	4.14	2.95	0.34219	SET domain (2);	0.189446	0.25817	N	0.028118	T	0.69324	0.3098	L	0.52823	1.66	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.61715	-0.7006	10	0.59425	D	0.04	-12.9	6.5786	0.22581	0.8828:0.0:0.1172:0.0	.	288	Q9NQV7	PRDM9_HUMAN	S	288;82	ENSP00000296682:N288S	ENSP00000253473:N82S	N	+	2	0	PRDM9	23558732	0.023000	0.18921	0.947000	0.38551	0.271000	0.26615	0.480000	0.22244	0.560000	0.29169	-0.331000	0.08364	AAC		0.527	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		38	71	0	0	0	1	0	38	71					G	23522975	A	G	23522975	3	3	48	1	0	0	0	0	1	0	0	0	12475	43	2	4	889	4	PRDM9	5	23522975	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	6821097	23522975	157392285	1414	5882										
CDH10	1008	broad.mit.edu	37	chr5	24509887	24509887	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acatgggtgttttctgcttcGactttcagagtataaagtct	9	7	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:24509887G>A	ENST00000264463.4	-	7	1551	c.1044C>T	c.(1042-1044)gtC>gtT	p.V348V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	348	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)	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)		TTTCTGCTTCGACTTTCAGAG	0.378										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.(1042-1044)gtC>gtT		cadherin 10, type 2 (T2-cadherin)							69	70	69					5																	24509887		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24509887G>A	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.1044C>T	5.37:g.24509887G>A		HNSCC(23;0.051)	Somatic					p.V348V	NM_006727.3	NP_006718.2	WXS	Illumina GAIIx	Phase_I	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	7	1551	-			348			Cadherin 3.		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.1044C>T	CCDS3892.1																																																																																				0.378	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		12	18	0	0	0	1	0	12	18					A	24509887	G	A	24509887	2	1	48	1	0	0	0	0	0	0	0	1	3098	1045	37	1		1	CDH10	5	24509887	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	986912	24509887	156405373	1415	5883										
CDH10	1008	broad.mit.edu	37	chr5	24535873	24535873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgctgtaaatgactctggcGctgttcccatatgaagggtc	11	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:24535873G>A	ENST00000264463.4	-	4	1092	c.585C>T	c.(583-585)agC>agT	p.S195S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	195	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S195R(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGACTCTGGCGCTGTTCCCAT	0.453										HNSCC(23;0.051)																												ENST00000264463.4																			1	Substitution - Missense(1)	p.S195R(1)	lung(1)	NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(583-585)agC>agT		cadherin 10, type 2 (T2-cadherin)							136	123	127					5																	24535873		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535873G>A	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.585C>T	5.37:g.24535873G>A		HNSCC(23;0.051)	Somatic					p.S195S	NM_006727.3	NP_006718.2	WXS	Illumina GAIIx	Phase_I	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	4	1092	-			195			Cadherin 2.		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.585C>T	CCDS3892.1																																																																																				0.453	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		16	24	0	0	0	1	0	16	24					A	24535873	G	A	24535873	2	1	48	1	0	0	0	0	0	0	0	1	3098	1078	38	1		1	CDH10	5	24535873	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	25986	24535873	156379387	1416	5884										
PDZD2	23037	broad.mit.edu	37	chr5	32088777	32088777	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaacatgacctgctagatgaCgaaaccctgaatcaatacga	8	10	1	4	rs74814525		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:32088777C>T	ENST00000438447.1	+	20	5611	c.5223C>T	c.(5221-5223)gaC>gaT	p.D1741D	PDZD2_ENST00000282493.3_Silent_p.D1741D			O15018	PDZD2_HUMAN	PDZ domain containing 2	1741					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						TGCTAGATGACGAAACCCTGA	0.473													C|||	1	0.000199681	8e-04	0	5008	,	,		20902	0		0	False		,,,				2504	0					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.(5221-5223)gaC>gaT		PDZ domain containing 2							130	105	114					5																	32088777		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32088777C>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.5223C>T	5.37:g.32088777C>T			Somatic				PDZD2_ENST00000282493.3_Silent_p.D1741D	p.D1741D			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			20	5611	+			1741					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.5223C>T	CCDS34137.1																																																																																				0.473	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			32	56	0	0	0	1	0	32	56					T	32088777	C	T	32088777	2	4	48	1	0	0	0	0	0	0	0	1	11710	535	19	1		1	PDZD2	5	32088777	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	7552904	32088777	148826483	1417	5885										
ZFR	51663	broad.mit.edu	37	chr5	32403220	32403220	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagtacttgccaacaaaatTtattttgggggtagatgttt	9	5	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:32403220T>A	ENST00000265069.8	-	8	1609	c.1507A>T	c.(1507-1509)Aat>Tat	p.N503Y		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	503					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)		CCAACAAAATTTATTTTGGGG	0.418																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(1507-1509)Aat>Tat		zinc finger RNA binding protein							107	107	107					5																	32403220		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32403220T>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.1507A>T	5.37:g.32403220T>A	ENSP00000265069:p.Asn503Tyr		Somatic					p.N503Y	NM_016107.3	NP_057191.2	WXS	Illumina GAIIx	Phase_I	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	8	1609	-			503					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.1507A>T	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.161168	0.57368	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.05925	3.37	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.10035	0.0246	L	0.43152	1.355	0.80722	D	1	P	0.50943	0.94	P	0.44732	0.459	T	0.01583	-1.1319	10	0.72032	D	0.01	.	16.0067	0.80367	0.0:0.0:0.0:1.0	.	503	Q96KR1	ZFR_HUMAN	Y	503;481	ENSP00000265069:N503Y	ENSP00000265069:N503Y	N	-	1	0	ZFR	32438977	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.747000	0.85070	2.187000	0.69744	0.402000	0.26972	AAT		0.418	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			23	33	0	0	0	1	0	23	33					A	32403220	T	A	32403220	3	1	48	1	0	0	0	0	1	0	0	0	17674	1841	64	4	1769	4	ZFR	5	32403220	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	314443	32403220	148512040	1418	5886										
ZFR	51663	broad.mit.edu	37	chr5	32404114	32404114	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gattttgagtcccacgagtaGaactgttgctgctgctggta	12	8	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:32404114G>T	ENST00000265069.8	-	7	1223	c.1121C>A	c.(1120-1122)tCt>tAt	p.S374Y		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	374					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)		CCCACGAGTAGAACTGTTGCT	0.423																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(1120-1122)tCt>tAt		zinc finger RNA binding protein							195	186	189					5																	32404114		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32404114G>T	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.1121C>A	5.37:g.32404114G>T	ENSP00000265069:p.Ser374Tyr		Somatic					p.S374Y	NM_016107.3	NP_057191.2	WXS	Illumina GAIIx	Phase_I	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	7	1223	-			374					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.1121C>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961210	0.53400	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.42513	0.97	5.73	5.73	0.89815	.	0.765078	0.13371	N	0.392889	T	0.53126	0.1777	M	0.80183	2.485	0.54753	D	0.999988	P	0.44578	0.838	B	0.41691	0.364	T	0.61436	-0.7063	10	0.72032	D	0.01	.	18.0665	0.89392	0.0:0.0:1.0:0.0	.	374	Q96KR1	ZFR_HUMAN	Y	374;352	ENSP00000265069:S374Y	ENSP00000265069:S374Y	S	-	2	0	ZFR	32439871	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.515000	0.60489	2.707000	0.92482	0.555000	0.69702	TCT		0.423	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			20	53	1	0	0.000132079	1	0.000142521	20	53					T	32404114	G	T	32404114	3	4	48	1	0	0	0	0	1	0	0	0	17674	942	33	2	2159	2	ZFR	5	32404114	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	894	32404114	148511146	1419	5887										
NPR3	4883	broad.mit.edu	37	chr5	32786419	32786419	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacatcgggaattacgggaaGattccatcagatcccatttt	8	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:32786419G>A	ENST00000265074.8	+	8	1937	c.1594G>A	c.(1594-1596)Gat>Aat	p.D532N	NPR3_ENST00000415167.2_Missense_Mutation_p.D531N|NPR3_ENST00000434067.2_Missense_Mutation_p.D316N|NPR3_ENST00000415685.2_Missense_Mutation_p.D315N|AC026703.1_ENST00000326958.1_5'Flank	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	532					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)	ATTACGGGAAGATTCCATCAG	0.413																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(1594-1596)Gat>Aat		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						82	74	77					5																	32786419		1823	4084	5907	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32786419G>A		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.1594G>A	5.37:g.32786419G>A	ENSP00000265074:p.Asp532Asn		Somatic				NPR3_ENST00000415167.2_Missense_Mutation_p.D531N|NPR3_ENST00000415685.2_Missense_Mutation_p.D315N|NPR3_ENST00000434067.2_Missense_Mutation_p.D316N	p.D532N	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	WXS	Illumina GAIIx	Phase_I	P17342	ANPRC_HUMAN			8	1937	+			532					A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.1594G>A	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967424	0.92855	.	.	ENSG00000113389	ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	L	0.27053	0.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.43637	-0.9379	10	0.32370	T	0.25	-14.9238	20.8794	0.99867	0.0:0.0:1.0:0.0	.	315;532;531	E7EPG9;P17342;Q60I31	.;ANPRC_HUMAN;.	N	316;315;532;531	ENSP00000388408:D316N;ENSP00000402490:D315N;ENSP00000265074:D532N;ENSP00000398028:D531N	ENSP00000265074:D532N	D	+	1	0	NPR3	32822176	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.546000	0.73887	2.941000	0.99782	0.655000	0.94253	GAT		0.413	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		5	13	0	0	0	1	0	5	13					A	32786419	G	A	32786419	3	1	48	1	0	0	0	0	1	0	0	0	10605	942	33	3	1621	3	NPR3	5	32786419	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	382305	32786419	148128841	1420	5888										
TARS	6897	broad.mit.edu	37	chr5	33467054	33467054	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtacattgaataaaaagattCgaaatgcacagttagcacag	8	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:33467054C>T	ENST00000265112.3	+	18	2298	c.1987C>T	c.(1987-1989)Cga>Tga	p.R663*	TARS_ENST00000455217.2_Nonsense_Mutation_p.R696*|TARS_ENST00000414361.2_Nonsense_Mutation_p.R542*|TARS_ENST00000502553.1_Nonsense_Mutation_p.R663*|TARS_ENST00000541634.1_Nonsense_Mutation_p.R559*	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	663					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.R663*(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TAAAAAGATTCGAAATGCACA	0.373																																						ENST00000265112.3																			1	Substitution - Nonsense(1)	p.R663*(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(1987-1989)Cga>Tga		threonyl-tRNA synthetase	L-Threonine(DB00156)						85	81	82					5																	33467054		2203	4300	6503	SO:0001587	stop_gained	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33467054C>T	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1987C>T	5.37:g.33467054C>T	ENSP00000265112:p.Arg663*		Somatic				TARS_ENST00000502553.1_Nonsense_Mutation_p.R663*|TARS_ENST00000455217.2_Nonsense_Mutation_p.R696*|TARS_ENST00000414361.2_Nonsense_Mutation_p.R542*|TARS_ENST00000541634.1_Nonsense_Mutation_p.R559*	p.R663*	NM_152295.4	NP_689508.3	WXS	Illumina GAIIx	Phase_I	P26639	SYTC_HUMAN			18	2298	+			663					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Nonsense_Mutation	SNP	ENST00000265112.3	37	c.1987C>T	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	c	39	7.596827	0.98381	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	.	.	.	5.62	3.22	0.36961	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.7129	12.571	0.56337	0.725:0.275:0.0:0.0	.	.	.	.	X	663;663;559;696;542	.	ENSP00000265112:R663X	R	+	1	2	TARS	33502811	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.600000	0.46240	0.400000	0.25396	-0.262000	0.10625	CGA		0.373	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		15	32	0	0	0	1	0	15	32					T	33467054	C	T	33467054	4	4	48	1	0	0	0	0	0	1	0	0	15574	876	31	1	2057	1	TARS	5	33467054	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	680635	33467054	147448206	1421	5889										
RXFP3	51289	broad.mit.edu	37	chr5	33937052	33937052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggacatcccccgggcagcggCggggcagagagcgcggacac	18	14	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:33937052C>T	ENST00000330120.3	+	1	562	c.207C>T	c.(205-207)ggC>ggT	p.G69G		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	69					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CGGGCAGCGGCGGGGCAGAGA	0.697																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(205-207)ggC>ggT		relaxin/insulin-like family peptide receptor 3							37	49	45					5																	33937052		2202	4297	6499	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937052C>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"GPCR / Class A : Relaxin family peptide receptors"	24883	protein-coding gene	gene with protein product		609445	"relaxin 3 receptor 1", "relaxin family peptide receptor 3"	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.207C>T	5.37:g.33937052C>T			Somatic					p.G69G	NM_016568.3	NP_057652.1	WXS	Illumina GAIIx	Phase_I	Q9NSD7	RL3R1_HUMAN			1	562	+			69					Q14DA5	Silent	SNP	ENST00000330120.3	37	c.207C>T	CCDS3900.1																																																																																				0.697	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		30	44	0	0	0	1	0	30	44					T	33937052	C	T	33937052	2	4	48	1	0	0	0	0	0	0	0	1	13776	755	27	1		1	RXFP3	5	33937052	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	469998	33937052	146978208	1422	5890										
AMACR	23600	broad.mit.edu	37	chr5	34005876	34005876	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catacctgacaaagccaaatAgttgatatcgtggccagcta	8	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:34005876A>T	ENST00000335606.6	-	2	464	c.376T>A	c.(376-378)Tat>Aat	p.Y126N	AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.Y126N|AMACR_ENST00000441713.2_Missense_Mutation_p.Y126N|AMACR_ENST00000426255.2_Missense_Mutation_p.Y126N|AMACR_ENST00000382068.3_Missense_Mutation_p.Y126N|AMACR_ENST00000502637.1_Missense_Mutation_p.Y126N|RP11-1084J3.4_ENST00000382079.3_Missense_Mutation_p.L273Q|AMACR_ENST00000382072.2_Missense_Mutation_p.Y126N|AMACR_ENST00000512079.1_Missense_Mutation_p.Y126N	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	126					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						AAAGCCAAATAGTTGATATCG	0.388																																						ENST00000335606.6																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						c.(376-378)Tat>Aat		alpha-methylacyl-CoA racemase							48	50	49					5																	34005876		2203	4300	6503	SO:0001583	missense	23600				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	g.chr5:34005876A>T	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.376T>A	5.37:g.34005876A>T	ENSP00000334424:p.Tyr126Asn		Somatic				AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000441713.2_Missense_Mutation_p.Y126N|AMACR_ENST00000502637.1_Missense_Mutation_p.Y126N|AMACR_ENST00000382085.3_Missense_Mutation_p.Y126N|AMACR_ENST00000382072.2_Missense_Mutation_p.Y126N	p.Y126N	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	WXS	Illumina GAIIx	Phase_I	Q9UHK6	AMACR_HUMAN			2	464	-			126					A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	c.376T>A	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.521991	0.85600	.	.	ENSG00000242110	ENST00000335606;ENST00000382072;ENST00000382085;ENST00000502637;ENST00000441713	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.46	5.46	0.80206	CoA-transferase family III domain (2);	0.166117	0.56097	D	0.000034	D	0.84800	0.5552	H	0.99555	4.625	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	0.87578	0.991;0.996;0.982;0.989;0.998;0.989	D	0.91596	0.5291	10	0.87932	D	0	-7.7514	15.82	0.78633	1.0:0.0:0.0:0.0	.	126;126;126;126;126;126	B3KMU8;Q6VRU4;F8W9N1;D6RB81;Q9UHK6-4;Q9UHK6	.;.;.;.;.;AMACR_HUMAN	N	126	ENSP00000334424:Y126N;ENSP00000371504:Y126N;ENSP00000371517:Y126N;ENSP00000424351:Y126N;ENSP00000403800:Y126N	ENSP00000334424:Y126N	Y	-	1	0	AMACR	34041633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.687000	0.91255	2.209000	0.71365	0.533000	0.62120	TAT		0.388	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		24	38	0	0	0	1	0	24	38					T	34005876	A	T	34005876	3	4	48	1	0	0	0	0	1	0	0	0	562	420	15	4	1118	4	AMACR	5	34005876	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	68824	34005876	146909384	1423	5891										
SPEF2	79925	broad.mit.edu	37	chr5	35763639	35763639	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaagaattcctctagttccTcgaatatccatttctctgga	5	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:35763639T>C	ENST00000356031.3	+	26	3790	c.3636T>C	c.(3634-3636)ccT>ccC	p.P1212P	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Silent_p.P1207P	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1212					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCTAGTTCCTCGAATATCCA	0.333																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(3619-3621)ccT>ccC		sperm flagellar 2							82	72	75					5																	35763639		1810	4081	5891	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35763639T>C	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3636T>C	5.37:g.35763639T>C			Somatic				SPEF2_ENST00000356031.3_Silent_p.P1212P|CTD-2113L7.1_ENST00000510433.1_RNA	p.P1207P			WXS	Illumina GAIIx	Phase_I	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		26	3621	+	all_lung(31;7.56e-05)		1212					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.3621T>C	CCDS43309.1																																																																																				0.333	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		13	29	0	0	0	1	0	13	29					C	35763639	T	C	35763639	2	2	48	1	0	0	0	0	0	0	0	1	15050	1538	54	4		4	SPEF2	5	35763639	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1757763	35763639	145151621	1424	5892										
SPEF2	79925	broad.mit.edu	37	chr5	35771815	35771815	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgcaaataaaaaagtcaaAaaggagccacccaagaaaaa	8	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:35771815A>C	ENST00000356031.3	+	27	4060	c.3906A>C	c.(3904-3906)aaA>aaC	p.K1302N	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.K1297N	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1302					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAAGTCAAAAAGGAGCCAC	0.408																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(3889-3891)aaA>aaC		sperm flagellar 2							52	55	54					5																	35771815		1807	4066	5873	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35771815A>C	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3906A>C	5.37:g.35771815A>C	ENSP00000348314:p.Lys1302Asn		Somatic				SPEF2_ENST00000356031.3_Missense_Mutation_p.K1302N|CTD-2113L7.1_ENST00000510433.1_RNA	p.K1297N			WXS	Illumina GAIIx	Phase_I	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		27	3891	+	all_lung(31;7.56e-05)		1302					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.3891A>C	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.174415	0.38413	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.07688	3.2;3.17	5.68	1.73	0.24493	.	0.181411	0.45126	D	0.000390	T	0.13884	0.0336	L	0.56769	1.78	0.80722	D	1	D;P	0.57257	0.979;0.906	P;P	0.56563	0.801;0.521	T	0.14117	-1.0484	10	0.22706	T	0.39	.	6.3955	0.21611	0.5574:0.0:0.4426:0.0	.	1297;1302	Q9C093-2;Q9C093	.;SPEF2_HUMAN	N	1302;1297	ENSP00000348314:K1302N;ENSP00000412125:K1297N	ENSP00000348314:K1302N	K	+	3	2	SPEF2	35807572	1.000000	0.71417	0.925000	0.36789	0.026000	0.11368	0.779000	0.26746	0.537000	0.28751	0.482000	0.46254	AAA		0.408	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		3	27	0	0	0	1	0	3	27					C	35771815	A	C	35771815	3	2	48	1	0	0	0	0	1	0	0	0	15050	11	1	4	4033	4	SPEF2	5	35771815	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	8176	35771815	145143445	1425	5893										
IL7R	3575	broad.mit.edu	37	chr5	35860991	35860991	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaactggatgactactcattCtcatgctatagccagttgga	9	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:35860991C>T	ENST00000303115.3	+	2	249	c.120C>T	c.(118-120)ttC>ttT	p.F40F	IL7R_ENST00000343305.4_Silent_p.F40F|IL7R_ENST00000511982.1_Silent_p.F40F|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000506850.1_Silent_p.F40F	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	40					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)			ACTACTCATTCTCATGCTATA	0.423			"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.(118-120)ttC>ttT		interleukin 7 receptor							191	175	181					5																	35860991		2203	4299	6502	SO:0001819	synonymous_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35860991C>T	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.120C>T	5.37:g.35860991C>T			Somatic				IL7R_ENST00000343305.4_Silent_p.F40F|IL7R_ENST00000511982.1_Silent_p.F40F|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000506850.1_Silent_p.F40F	p.F40F	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)		2	249	+	all_lung(31;0.00015)		40					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Silent	SNP	ENST00000303115.3	37	c.120C>T	CCDS3911.1																																																																																				0.423	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			19	94	0	0	0	1	0	19	94					T	35860991	C	T	35860991	2	4	48	1	0	0	0	0	0	0	0	1	7714	912	32	3		3	IL7R	5	35860991	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	89176	35860991	145054269	1426	5894										
CAPSL	133690	broad.mit.edu	37	chr5	35910012	35910012	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcaaagttatccagaaattTcctaaatacttgttcctcac	3	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:35910012T>G	ENST00000397367.2	-	4	607	c.481A>C	c.(481-483)Aaa>Caa	p.K161Q	CAPSL_ENST00000514524.1_Missense_Mutation_p.K161Q|CAPSL_ENST00000397366.1_Missense_Mutation_p.K161Q	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	161	EF-hand 4. {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)			TCCAGAAATTTCCTAAATACT	0.368																																						ENST00000397367.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19						c.(481-483)Aaa>Caa		calcyphosine-like							183	183	183					5																	35910012		2203	4300	6503	SO:0001583	missense	133690					cytoplasm	calcium ion binding	g.chr5:35910012T>G	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.481A>C	5.37:g.35910012T>G	ENSP00000380524:p.Lys161Gln		Somatic				CAPSL_ENST00000397366.1_Missense_Mutation_p.K161Q|CAPSL_ENST00000514524.1_Missense_Mutation_p.K161Q	p.K161Q	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	607	-	all_lung(31;0.000268)		161			EF-hand 4.			Missense_Mutation	SNP	ENST00000397367.2	37	c.481A>C	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	T	13.16	2.154516	0.38021	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	T;T;T;T	0.71341	-0.56;-0.56;-0.56;0.54	5.68	5.68	0.88126	EF-hand-like domain (1);	0.291491	0.40385	N	0.001104	T	0.59252	0.2180	L	0.39245	1.2	0.35329	D	0.785483	B	0.14012	0.009	B	0.19666	0.026	T	0.62407	-0.6861	10	0.33940	T	0.23	-29.3596	7.4792	0.27395	0.1285:0.0705:0.0:0.8011	.	161	Q8WWF8	CAPSL_HUMAN	Q	161	ENSP00000380524:K161Q;ENSP00000380523:K161Q;ENSP00000424806:K161Q;ENSP00000421018:K161Q	ENSP00000380523:K161Q	K	-	1	0	CAPSL	35945769	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.097000	0.50251	2.171000	0.68590	0.374000	0.22700	AAA		0.368	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		12	75	0	0	0	1	0	12	75					G	35910012	T	G	35910012	3	3	48	1	0	0	0	0	1	0	0	0	2641	1792	62	4	153	4	CAPSL	5	35910012	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	49021	35910012	145005248	1427	5895										
NIPBL	25836	broad.mit.edu	37	chr5	36955610	36955610	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttccatctcctttacctgCtacaactacaaagagccttc	3	15	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:36955610C>A	ENST00000282516.8	+	3	600	c.101C>A	c.(100-102)gCt>gAt	p.A34D	NIPBL_ENST00000448238.2_Missense_Mutation_p.A34D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	34					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)			CCTTTACCTGCTACAACTACA	0.398																																						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.(100-102)gCt>gAt		Nipped-B homolog (Drosophila)							135	127	129					5																	36955610		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.chr5:36955610C>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.101C>A	5.37:g.36955610C>A	ENSP00000282516:p.Ala34Asp		Somatic				NIPBL_ENST00000448238.2_Missense_Mutation_p.A34D	p.A34D	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)		3	600	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		34					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.101C>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	32	5.151425	0.94645	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94758	-3.5;-3.51	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.96827	0.8964	M	0.64997	1.995	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	D	0.97139	0.9823	10	0.72032	D	0.01	.	19.2931	0.94110	0.0:1.0:0.0:0.0	.	34;34	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	D	34	ENSP00000282516:A34D;ENSP00000406266:A34D	ENSP00000282516:A34D	A	+	2	0	NIPBL	36991367	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.442000	0.80503	2.567000	0.86603	0.585000	0.79938	GCT		0.398	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		15	34	1	0	1.33834e-09	1	1.61283e-09	15	34					A	36955610	C	A	36955610	3	1	48	1	0	0	0	0	1	0	0	0	10437	797	28	5	107	5	NIPBL	5	36955610	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1045598	36955610	143959650	1428	5896										
C5orf42	65250	broad.mit.edu	37	chr5	37198935	37198935	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taccttctggcgattattttTttcagcttttaaaagaagat	6	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:37198935T>G	ENST00000508244.1	-	19	3634	c.3541A>C	c.(3541-3543)Aaa>Caa	p.K1181Q	C5orf42_ENST00000425232.2_Missense_Mutation_p.K1181Q|C5orf42_ENST00000274258.7_Missense_Mutation_p.K62Q			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1181						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CGATTATTTTTTTCAGCTTTT	0.368																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(184-186)Aaa>Caa		chromosome 5 open reading frame 42							58	63	61					5																	37198935		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37198935T>G		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3541A>C	5.37:g.37198935T>G	ENSP00000421690:p.Lys1181Gln		Somatic				C5orf42_ENST00000425232.2_Missense_Mutation_p.K1181Q|C5orf42_ENST00000508244.1_Missense_Mutation_p.K1181Q	p.K62Q			WXS	Illumina GAIIx	Phase_I	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		20	3771	-	all_lung(31;0.000616)		1181					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.184A>C	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	26.2	4.714102	0.89112	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.26223	1.78;1.78;1.75;1.76	5.28	5.28	0.74379	.	0.000000	0.51477	D	0.000088	T	0.37046	0.0989	N	0.24115	0.695	0.29130	N	0.879722	D;D	0.76494	0.999;0.999	D;D	0.70016	0.967;0.967	T	0.27468	-1.0073	10	0.72032	D	0.01	.	15.5028	0.75713	0.0:0.0:0.0:1.0	.	1181;62	E9PH94;Q9H799	.;CE042_HUMAN	Q	1181;1181;62;229;62	ENSP00000421690:K1181Q;ENSP00000389014:K1181Q;ENSP00000274258:K62Q;ENSP00000424223:K229Q	ENSP00000274258:K62Q	K	-	1	0	C5orf42	37234692	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	4.483000	0.60264	2.122000	0.65172	0.533000	0.62120	AAA		0.368	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		4	38	0	0	0	1	0	4	38					G	37198935	T	G	37198935	3	3	48	1	0	0	0	0	1	0	0	0	2303	1850	64	4	6184	4	C5orf42	5	37198935	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	243325	37198935	143716325	1429	5897										
C9	735	broad.mit.edu	37	chr5	39341372	39341372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcattgtcaccattacaccGaagtcgcatctttatgcatc	6	12	3	0	rs147701327	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:39341372G>A	ENST00000263408.4	-	4	447	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	118	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)			CCATTACACCGAAGTCGCATC	0.428																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(352-354)Cgg>Tgg		complement component 9		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	113	110	111		352	3.2	0.5	5	dbSNP_134	111	5,8595	4.3+/-15.6	0,5,4295	yes	missense	C9	NM_001737.3	101	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	probably-damaging	118/560	39341372	6,13000	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.chr5:39341372G>A		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.352C>T	5.37:g.39341372G>A	ENSP00000263408:p.Arg118Trp		Somatic				C9_ENST00000509186.1_5'UTR	p.R118W	NM_001737.3	NP_001728.1	WXS	Illumina GAIIx	Phase_I	P02748	CO9_HUMAN	Epithelial(62;0.158)		4	447	-	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)	118			LDL-receptor class A.			Missense_Mutation	SNP	ENST00000263408.4	37	c.352C>T	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133700	0.56828	2.27E-4	5.81E-4	ENSG00000113600	ENST00000263408	D	0.87729	-2.29	5.14	3.24	0.37175	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.805832	0.11072	N	0.602799	T	0.82162	0.4977	M	0.62088	1.915	0.25282	N	0.989429	P	0.34522	0.455	B	0.16722	0.016	T	0.74179	-0.3749	10	0.66056	D	0.02	-5.565	8.7158	0.34410	0.0858:0.2381:0.6761:0.0	.	118	P02748	CO9_HUMAN	W	118	ENSP00000263408:R118W	ENSP00000263408:R118W	R	-	1	2	C9	39377129	0.987000	0.35691	0.471000	0.27229	0.573000	0.36030	1.038000	0.30254	1.160000	0.42584	0.563000	0.77884	CGG		0.428	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			34	62	0	0	0	1	0	34	62					A	39341372	G	A	39341372	3	1	48	1	0	0	0	0	1	0	0	0	2445	1057	37	1	1359	1	C9	5	39341372	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2142437	39341372	141573888	1430	5898										
DAB2	1601	broad.mit.edu	37	chr5	39392476	39392476	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaattcttaccccagttttCtcatcaattatttttatccc	2	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:39392476C>A	ENST00000320816.6	-	4	788	c.321G>T	c.(319-321)gaG>gaT	p.E107D	DAB2_ENST00000339788.6_Missense_Mutation_p.E107D|DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000545653.1_Missense_Mutation_p.E107D|DAB2_ENST00000509337.1_Missense_Mutation_p.E107D	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	107	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				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)			CCCCAGTTTTCTCATCAATTA	0.458																																						ENST00000320816.6																			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.(319-321)gaG>gaT		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							82	88	86					5																	39392476		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.chr5:39392476C>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.321G>T	5.37:g.39392476C>A	ENSP00000313391:p.Glu107Asp		Somatic				DAB2_ENST00000545653.1_Missense_Mutation_p.E107D|DAB2_ENST00000339788.6_Missense_Mutation_p.E107D|DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000509337.1_Missense_Mutation_p.E107D	p.E107D	NM_001343.3	NP_001334.2	WXS	Illumina GAIIx	Phase_I	P98082	DAB2_HUMAN	Epithelial(62;0.137)		4	788	-	all_lung(31;0.000197)		107			PID.		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.321G>T	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372546	0.82573	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.71	3.94	0.45596	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.75525	0.3861	M	0.70595	2.14	0.58432	D	0.999998	P;D	0.53885	0.757;0.963	D;D	0.76575	0.98;0.988	T	0.75783	-0.3196	10	0.72032	D	0.01	-17.7663	9.947	0.41616	0.0:0.7308:0.0:0.2692	.	107;107	P98082;P98082-3	DAB2_HUMAN;.	D	107	ENSP00000313391:E107D;ENSP00000345508:E107D;ENSP00000439919:E107D;ENSP00000426245:E107D	ENSP00000313391:E107D	E	-	3	2	DAB2	39428233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.105000	0.31086	0.781000	0.33589	0.655000	0.94253	GAG		0.458	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		10	16	1	0	9.70103e-10	1	1.17791e-09	10	16					A	39392476	C	A	39392476	3	1	48	1	0	0	0	0	1	0	0	0	4220	912	32	2	2035	2	DAB2	5	39392476	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	51104	39392476	141522784	1431	5899										
TTC33	23548	broad.mit.edu	37	chr5	40730378	40730378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattacctgtgatttcatctCgtatagggtagcatcatttg	8	7	3	1	rs144481517		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:40730378C>T	ENST00000337702.4	-	3	441	c.289G>A	c.(289-291)Gag>Aag	p.E97K	TTC33_ENST00000503936.2_Intron	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	97										NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GATTTCATCTCGTATAGGGTA	0.358													C|||	1	0.000199681	8e-04	0	5008	,	,		16689	0		0	False		,,,				2504	0					ENST00000337702.4																			0				NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(289-291)Gag>Aag		tetratricopeptide repeat domain 33							152	142	145					5																	40730378		2203	4300	6503	SO:0001583	missense	23548						binding	g.chr5:40730378C>T	BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"Tetratricopeptide (TTC) repeat domain containing"	29959	protein-coding gene	gene with protein product	"osmosis responsive factor"					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.289G>A	5.37:g.40730378C>T	ENSP00000338533:p.Glu97Lys		Somatic				TTC33_ENST00000503936.2_Intron	p.E97K	NM_012382.2	NP_036514.1	WXS	Illumina GAIIx	Phase_I	Q6PID6	TTC33_HUMAN			3	441	-			97					B2R6G0|O95105	Missense_Mutation	SNP	ENST00000337702.4	37	c.289G>A	CCDS3931.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	36	5.719160	0.96839	.	.	ENSG00000113638	ENST00000337702	T	0.59224	0.28	5.84	5.84	0.93424	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.75744	0.3891	M	0.84846	2.72	0.80722	D	1	D	0.64830	0.994	P	0.59171	0.853	T	0.74275	-0.3718	10	0.30854	T	0.27	-22.7733	18.3196	0.90232	0.0:1.0:0.0:0.0	.	97	Q6PID6	TTC33_HUMAN	K	97	ENSP00000338533:E97K	ENSP00000338533:E97K	E	-	1	0	TTC33	40766135	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.484000	0.73621	2.764000	0.94973	0.655000	0.94253	GAG		0.358	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1	NM_012382		19	34	0	0	0	1	0	19	34					T	40730378	C	T	40730378	3	4	48	1	0	0	0	0	1	0	0	0	16717	893	31	1	511	1	TTC33	5	40730378	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1337902	40730378	140184882	1432	5900										
C7	730	broad.mit.edu	37	chr5	40959686	40959686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgttggagaaacgacagaaaGcacacaatgcgaagatgagg	13	7	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:40959686G>A	ENST00000313164.9	+	12	1984	c.1625G>A	c.(1624-1626)aGc>aAc	p.S542N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	542	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)				ACGACAGAAAGCACACAATGC	0.537																																						ENST00000313164.9																			0											c.(1624-1626)aGc>aAc		complement component 7							76	84	81					5																	40959686		2021	4177	6198	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40959686G>A	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.1625G>A	5.37:g.40959686G>A	ENSP00000322061:p.Ser542Asn		Somatic					p.S542N	NM_000587.2	NP_000578.2	WXS	Illumina GAIIx	Phase_I	P10643	CO7_HUMAN			12	1984	+		Ovarian(839;0.0112)	542			TSP type-1 2.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.1625G>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	7.731	0.699237	0.15106	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.53640	0.61	5.4	1.22	0.21188	.	0.494203	0.23662	N	0.045807	T	0.39682	0.1087	L	0.61036	1.89	0.21256	N	0.999746	B	0.22003	0.063	B	0.18263	0.021	T	0.30119	-0.9989	10	0.39692	T	0.17	-12.1346	7.4794	0.27395	0.0657:0.3237:0.5:0.1106	.	542	P10643	CO7_HUMAN	N	542;382	ENSP00000322061:S542N	ENSP00000322061:S542N	S	+	2	0	C7	40995443	0.162000	0.22906	0.509000	0.27700	0.066000	0.16364	0.563000	0.23547	0.612000	0.30071	0.462000	0.41574	AGC		0.537	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			14	22	0	0	0	1	0	14	22					A	40959686	G	A	40959686	3	1	48	1	0	0	0	0	1	0	0	0	2377	971	34	3	1671	3	C7	5	40959686	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	229308	40959686	139955574	1433	5901										
PLCXD3	345557	broad.mit.edu	37	chr5	41313764	41313764	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagacatagttgagctttatGacagtgctgataaagtcacc	9	7	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:41313764G>T	ENST00000377801.3	-	3	995	c.921C>A	c.(919-921)gtC>gtA	p.V307V	PLCXD3_ENST00000328457.3_Silent_p.V307V			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	307					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGAGCTTTATGACAGTGCTGA	0.448																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(919-921)gtC>gtA		phosphatidylinositol-specific phospholipase C, X domain containing 3							125	111	116					5																	41313764		2203	4300	6503	SO:0001819	synonymous_variant	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41313764G>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.921C>A	5.37:g.41313764G>T			Somatic				PLCXD3_ENST00000328457.3_Silent_p.V307V	p.V307V			WXS	Illumina GAIIx	Phase_I	Q63HM9	PLCX3_HUMAN			3	995	-			307					A6NL04	Silent	SNP	ENST00000377801.3	37	c.921C>A	CCDS34150.1																																																																																				0.448	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		15	32	1	0	7.93312e-07	1	8.98086e-07	15	32					T	41313764	G	T	41313764	2	4	48	1	0	0	0	0	0	0	0	1	12052	1277	45	2		2	PLCXD3	5	41313764	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	354078	41313764	139601496	1434	5902										
PLCXD3	345557	broad.mit.edu	37	chr5	41382489	41382489	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagctcctagctggccagtaAaattcattgtctgagtggct	10	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:41382489A>C	ENST00000377801.3	-	2	325	c.251T>G	c.(250-252)tTt>tGt	p.F84C	PLCXD3_ENST00000328457.3_Missense_Mutation_p.F84C			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	84	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTGGCCAGTAAAATTCATTGT	0.453																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(250-252)tTt>tGt		phosphatidylinositol-specific phospholipase C, X domain containing 3							58	63	62					5																	41382489		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382489A>C		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.251T>G	5.37:g.41382489A>C	ENSP00000367032:p.Phe84Cys		Somatic				PLCXD3_ENST00000328457.3_Missense_Mutation_p.F84C	p.F84C			WXS	Illumina GAIIx	Phase_I	Q63HM9	PLCX3_HUMAN			2	325	-			84			PI-PLC X-box.		A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.251T>G	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982546	0.74474	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	T;T	0.63744	-0.06;-0.06	6.07	6.07	0.98685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.000000	0.85682	D	0.000000	T	0.80325	0.4602	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.81143	-0.1067	10	0.48119	T	0.1	-4.3232	16.6406	0.85098	1.0:0.0:0.0:0.0	.	84	Q63HM9	PLCX3_HUMAN	C	84	ENSP00000367032:F84C;ENSP00000333751:F84C	ENSP00000333751:F84C	F	-	2	0	PLCXD3	41418246	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	8.923000	0.92808	2.326000	0.78906	0.533000	0.62120	TTT		0.453	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		20	31	0	0	0	1	0	20	31					C	41382489	A	C	41382489	3	2	48	1	0	0	0	0	1	0	0	0	12052	14	1	4	722	4	PLCXD3	5	41382489	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	68725	41382489	139532771	1435	5903										
OXCT1	5019	broad.mit.edu	37	chr5	41794170	41794170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgctcctagcattgtcagatCgacgtgtccactgagaaaga	10	11	1	3	rs544345952	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:41794170C>T	ENST00000196371.5	-	13	1343	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N	OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000512084.1_5'UTR|OXCT1_ENST00000510634.1_5'UTR|OXCT1_ENST00000509987.1_Missense_Mutation_p.D209N	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	395					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	ATTGTCAGATCGACGTGTCCA	0.398													c|||	5	0.000998403	0	0	5008	,	,		15718	0		0	False		,,,				2504	0.0051					ENST00000196371.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.(1183-1185)Gat>Aat		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						113	109	110					5																	41794170		2203	4300	6503	SO:0001583	missense	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41794170C>T	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"3-oxoacid CoA transferase"	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.1183G>A	5.37:g.41794170C>T	ENSP00000196371:p.Asp395Asn		Somatic				OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000510634.1_5'UTR|OXCT1_ENST00000512084.1_5'UTR|OXCT1_ENST00000509987.1_Missense_Mutation_p.D209N	p.D395N	NM_000436.3	NP_000427.1	WXS	Illumina GAIIx	Phase_I	P55809	SCOT1_HUMAN			13	1343	-			395					B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	c.1183G>A	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	c	10.04	1.242306	0.22796	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	D;D	0.91631	-2.88;-2.88	5.87	-5.34	0.02705	3-oxoacid CoA-transferase, subunit B (1);	0.495914	0.23309	N	0.049582	D	0.89167	0.6638	M	0.73753	2.245	0.26863	N	0.96791	B	0.06786	0.001	B	0.08055	0.003	T	0.71328	-0.4626	10	0.23302	T	0.38	-4.8086	17.4841	0.87682	0.0:0.6568:0.0:0.3432	.	395	P55809	SCOT1_HUMAN	N	395;209	ENSP00000196371:D395N;ENSP00000425348:D209N	ENSP00000196371:D395N	D	-	1	0	OXCT1	41829927	0.450000	0.25697	0.445000	0.26908	0.333000	0.28666	0.325000	0.19628	-0.899000	0.03901	-1.106000	0.02097	GAT		0.398	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		9	81	0	0	0	1	0	9	81					T	41794170	C	T	41794170	3	4	48	1	0	0	0	0	1	0	0	0	11338	884	31	1	399	1	OXCT1	5	41794170	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	411681	41794170	139121090	1436	5904										
PARP8	79668	broad.mit.edu	37	chr5	50090965	50090965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaatgcctaactctaaagtCgcatagactattgactcgat	8	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:50090965C>T	ENST00000281631.5	+	12	1300	c.1142C>T	c.(1141-1143)tCg>tTg	p.S381L	PARP8_ENST00000505697.2_Missense_Mutation_p.S381L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.S381L|PARP8_ENST00000514342.2_Missense_Mutation_p.S134L|PARP8_ENST00000514067.2_Missense_Mutation_p.S381L|PARP8_ENST00000505554.1_Missense_Mutation_p.S360L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	381						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ACTCTAAAGTCGCATAGACTA	0.458																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1141-1143)tCg>tTg		poly (ADP-ribose) polymerase family, member 8							114	110	112					5																	50090965		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50090965C>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1142C>T	5.37:g.50090965C>T	ENSP00000281631:p.Ser381Leu		Somatic				PARP8_ENST00000505554.1_Missense_Mutation_p.S360L|PARP8_ENST00000503750.2_Missense_Mutation_p.S381L|PARP8_ENST00000514342.2_Missense_Mutation_p.S134L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.S381L|PARP8_ENST00000514067.2_Missense_Mutation_p.S381L	p.S381L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	WXS	Illumina GAIIx	Phase_I	Q8N3A8	PARP8_HUMAN			12	1300	+		Lung NSC(810;0.0305)|Breast(144;0.222)	381					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.1142C>T	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109313	0.56398	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.3	5.3	0.74995	.	0.144611	0.45867	D	0.000336	T	0.35128	0.0921	N	0.19112	0.55	0.33716	D	0.616416	B;B;B	0.27700	0.059;0.041;0.186	B;B;B	0.14023	0.01;0.005;0.01	T	0.44019	-0.9355	8	.	.	.	-1.1764	14.2036	0.65721	0.1495:0.8505:0.0:0.0	.	273;381;381	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	L	381;381;134;381;381;360;134;134	.	.	S	+	2	0	PARP8	50126722	0.999000	0.42202	0.972000	0.41901	0.978000	0.69477	4.601000	0.61090	2.605000	0.88082	0.655000	0.94253	TCG		0.458	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		27	68	0	0	0	1	0	27	68					T	50090965	C	T	50090965	3	4	48	1	0	0	0	0	1	0	0	0	11474	893	31	1	1188	1	PARP8	5	50090965	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	8296795	50090965	130824295	1437	5905										
PELO	53918	broad.mit.edu	37	chr5	52096521	52096521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagtatgtcaagatgggggCttaccacaccatcgagctgg	13	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:52096521C>T	ENST00000274311.2	+	2	1278	c.293C>T	c.(292-294)gCt>gTt	p.A98V	ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	98					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				AAGATGGGGGCTTACCACACC	0.582																																						ENST00000274311.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11						c.(292-294)gCt>gTt		pelota homolog (Drosophila)							68	65	66					5																	52096521		2203	4300	6503	SO:0001583	missense	53918				cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding	g.chr5:52096521C>T		CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"pelota (Drosophila) homolog"			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.293C>T	5.37:g.52096521C>T	ENSP00000274311:p.Ala98Val		Somatic				PELO_ENST00000506949.1_Intron|ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron	p.A98V	NM_015946.4	NP_057030.3	WXS	Illumina GAIIx	Phase_I	Q9BRX2	PELO_HUMAN			2	1278	+		Lung NSC(810;4.94e-05)|Breast(144;0.0848)	98					Q9GZS6|Q9Y306	Missense_Mutation	SNP	ENST00000274311.2	37	c.293C>T	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001639	0.93227	.	.	ENSG00000152684	ENST00000274311	T	0.47869	0.83	5.66	5.66	0.87406	eRF1 domain 1/Pelota-like (1);	0.000000	0.85682	U	0.000000	T	0.76630	0.4014	H	0.94385	3.53	0.80722	D	1	D	0.63880	0.993	P	0.62089	0.898	T	0.81728	-0.0800	10	0.49607	T	0.09	-9.0001	19.3658	0.94461	0.0:1.0:0.0:0.0	.	98	Q9BRX2	PELO_HUMAN	V	98	ENSP00000274311:A98V	ENSP00000274311:A98V	A	+	2	0	PELO	52132278	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.360000	0.66086	2.665000	0.90641	0.563000	0.77884	GCT		0.582	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1	NM_015946		23	34	0	0	0	1	0	23	34					T	52096521	C	T	52096521	3	4	48	1	0	0	0	0	1	0	0	0	11733	797	28	3	295	3	PELO	5	52096521	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2005556	52096521	128818739	1438	5906										
ITGA1	3672	broad.mit.edu	37	chr5	52211328	52211328	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggggatggtaagacactgaAattttttggccagtctatcc	11	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:52211328A>C	ENST00000282588.6	+	15	2350	c.1892A>C	c.(1891-1893)aAa>aCa	p.K631T		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)				AAGACACTGAAATTTTTTGGC	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>aCa		integrin, alpha 1							172	171	172					5																	52211328		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.chr5:52211328A>C	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.1892A>C	5.37:g.52211328A>C	ENSP00000282588:p.Lys631Thr		Somatic					p.K631T	NM_181501.1	NP_852478.1	WXS	Illumina GAIIx	Phase_I	P56199	ITA1_HUMAN			15	2350	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	631					B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.1892A>C	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.220764	0.58560	.	.	ENSG00000213949	ENST00000282588	T	0.55760	0.5	5.53	5.53	0.82687	.	0.045906	0.85682	D	0.000000	T	0.45498	0.1345	L	0.45352	1.415	0.58432	D	0.999996	B	0.20671	0.047	B	0.24394	0.053	T	0.44528	-0.9322	10	0.62326	D	0.03	.	10.3298	0.43816	0.9265:0.0:0.0735:0.0	.	631	P56199	ITA1_HUMAN	T	631	ENSP00000282588:K631T	ENSP00000282588:K631T	K	+	2	0	ITGA1	52247085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.072000	0.76777	2.227000	0.72691	0.528000	0.53228	AAA		0.423	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		39	63	0	0	0	1	0	39	63					C	52211328	A	C	52211328	3	2	48	1	0	0	0	0	1	0	0	0	7881	14	1	4	1950	4	ITGA1	5	52211328	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	114807	52211328	128703932	1439	5907										
ITGA2	3673	broad.mit.edu	37	chr5	52347299	52347299	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttaacttgaacacatataAaaccaaagaagaaatgattg	6	5	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:52347299A>C	ENST00000296585.5	+	7	832	c.689A>C	c.(688-690)aAa>aCa	p.K230T		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	230	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)				AACACATATAAAACCAAAGAA	0.378																																						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.(688-690)aAa>aCa		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							112	107	109					5																	52347299		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.chr5:52347299A>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.689A>C	5.37:g.52347299A>C	ENSP00000296585:p.Lys230Thr		Somatic					p.K230T	NM_002203.3	NP_002194.2	WXS	Illumina GAIIx	Phase_I	P17301	ITA2_HUMAN			7	832	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	230			VWFA.		Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.689A>C	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	A	4.009	-0.000911	0.07819	.	.	ENSG00000164171	ENST00000296585	D	0.83419	-1.72	5.77	3.38	0.38709	von Willebrand factor, type A (3);	0.294020	0.36740	N	0.002423	T	0.67748	0.2926	N	0.21097	0.63	0.23859	N	0.996646	B;B	0.22909	0.001;0.077	B;B	0.19391	0.003;0.025	T	0.53380	-0.8447	10	0.30078	T	0.28	.	5.5477	0.17073	0.5271:0.2729:0.2:0.0	.	230;230	E7ESP4;P17301	.;ITA2_HUMAN	T	230	ENSP00000296585:K230T	ENSP00000296585:K230T	K	+	2	0	ITGA2	52383056	0.884000	0.30299	0.548000	0.28192	0.242000	0.25591	1.006000	0.29847	0.444000	0.26612	-1.407000	0.01130	AAA		0.378	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		17	30	0	0	0	1	0	17	30					C	52347299	A	C	52347299	3	2	48	1	0	0	0	0	1	0	0	0	7884	14	1	4	715	4	ITGA2	5	52347299	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	135971	52347299	128567961	1440	5908										
FST	10468	broad.mit.edu	37	chr5	52780019	52780019	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcttcctctgagcaatatcTctgtgggaatgatggagtca	11	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:52780019T>C	ENST00000256759.3	+	4	1000	c.617T>C	c.(616-618)cTc>cCc	p.L206P	FST_ENST00000396947.3_Missense_Mutation_p.L206P	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	206	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)			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)				GAGCAATATCTCTGTGGGAAT	0.522																																						ENST00000396947.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15						c.(616-618)cTc>cCc		follistatin							153	141	145					5																	52780019		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.chr5:52780019T>C	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.617T>C	5.37:g.52780019T>C	ENSP00000256759:p.Leu206Pro		Somatic				FST_ENST00000256759.3_Missense_Mutation_p.L206P	p.L206P	NM_006350.3	NP_006341.1	WXS	Illumina GAIIx	Phase_I	P19883	FST_HUMAN			4	783	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	206			Kazal-like 2.		B5BU94|Q9BTH0	Missense_Mutation	SNP	ENST00000256759.3	37	c.617T>C	CCDS3959.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.494684	0.85069	.	.	ENSG00000134363	ENST00000256759;ENST00000511025;ENST00000396947;ENST00000504226	T;T;T	0.04706	3.57;3.57;3.57	6.17	6.17	0.99709	Proteinase inhibitor I1, Kazal (2);	0.054942	0.85682	D	0.000000	T	0.28466	0.0704	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04976	-1.0914	10	0.87932	D	0	-11.5041	16.8222	0.85835	0.0:0.0:0.0:1.0	.	206	P19883	FST_HUMAN	P	206;206;206;78	ENSP00000256759:L206P;ENSP00000380151:L206P;ENSP00000426315:L78P	ENSP00000256759:L206P	L	+	2	0	FST	52815776	1.000000	0.71417	0.966000	0.40874	0.750000	0.42670	7.967000	0.87967	2.371000	0.80710	0.533000	0.62120	CTC		0.522	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409		24	44	0	0	0	1	0	24	44					C	52780019	T	C	52780019	3	2	48	1	0	0	0	0	1	0	0	0	6084	1551	54	4	631	4	FST	5	52780019	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	432720	52780019	128135241	1441	5909										
HSPB3	8988	broad.mit.edu	37	chr5	53751869	53751869	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggtccagttcctccctgaaGacatcatcattcagaccttc	6	14	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:53751869G>T	ENST00000302005.1	+	1	425	c.250G>T	c.(250-252)Gac>Tac	p.D84Y		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	84					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)				CCTCCCTGAAGACATCATCAT	0.537																																						ENST00000302005.1																			0				breast(1)|large_intestine(4)|prostate(3)	8						c.(250-252)Gac>Tac		heat shock 27kDa protein 3							103	95	98					5																	53751869		2203	4300	6503	SO:0001583	missense	8988				cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		g.chr5:53751869G>T	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.250G>T	5.37:g.53751869G>T	ENSP00000303394:p.Asp84Tyr		Somatic					p.D84Y	NM_006308.2	NP_006299.1	WXS	Illumina GAIIx	Phase_I	Q12988	HSPB3_HUMAN			1	425	+		Lung NSC(810;0.00104)	84						Missense_Mutation	SNP	ENST00000302005.1	37	c.250G>T	CCDS3961.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717669	0.89205	.	.	ENSG00000169271	ENST00000302005	D	0.94723	-3.5	5.67	5.67	0.87782	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	D	0.97663	0.9234	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.98076	1.0401	10	0.87932	D	0	-31.2699	19.7612	0.96319	0.0:0.0:1.0:0.0	.	84	Q12988	HSPB3_HUMAN	Y	84	ENSP00000303394:D84Y	ENSP00000303394:D84Y	D	+	1	0	HSPB3	53787626	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.692000	0.84203	2.646000	0.89796	0.655000	0.94253	GAC		0.537	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2			36	89	1	0	1.36161e-19	1	1.85609e-19	36	89					T	53751869	G	T	53751869	3	4	48	1	0	0	0	0	1	0	0	0	7430	942	33	2	252	2	HSPB3	5	53751869	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	971850	53751869	127163391	1442	5910										
GZMK	3003	broad.mit.edu	37	chr5	54329702	54329702	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatctacaccctgttaaccaAgaaataccagacttggatca	5	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:54329702A>C	ENST00000231009.2	+	5	813	c.743A>C	c.(742-744)aAg>aCg	p.K248T	CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	248	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)				CTGTTAACCAAGAAATACCAG	0.423																																						ENST00000231009.2																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15						c.(742-744)aAg>aCg		granzyme K (granzyme 3; tryptase II)							111	103	105					5																	54329702		2203	4300	6503	SO:0001583	missense	3003				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr5:54329702A>C	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.743A>C	5.37:g.54329702A>C	ENSP00000231009:p.Lys248Thr		Somatic				CTD-2313F11.1_ENST00000595218.1_RNA	p.K248T	NM_002104.2	NP_002095.1	WXS	Illumina GAIIx	Phase_I	P49863	GRAK_HUMAN			5	813	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	248			Peptidase S1.		B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	c.743A>C	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023110	0.35701	.	.	ENSG00000113088	ENST00000231009	D	0.88818	-2.43	4.84	3.68	0.42216	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.452591	0.23065	N	0.052336	D	0.84243	0.5429	L	0.38953	1.18	0.09310	N	0.999997	P	0.35527	0.507	P	0.44772	0.46	T	0.72164	-0.4373	10	0.24483	T	0.36	.	5.1618	0.15066	0.7255:0.1815:0.093:0.0	.	248	P49863	GRAK_HUMAN	T	248	ENSP00000231009:K248T	ENSP00000231009:K248T	K	+	2	0	GZMK	54365459	0.000000	0.05858	0.265000	0.24526	0.834000	0.47266	0.026000	0.13599	0.966000	0.38159	0.533000	0.62120	AAG		0.423	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		8	38	0	0	0	1	0	8	38					C	54329702	A	C	54329702	3	2	48	1	0	0	0	0	1	0	0	0	6927	72	3	4	761	4	GZMK	5	54329702	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	577833	54329702	126585558	1443	5911										
SKIV2L2	23517	broad.mit.edu	37	chr5	54640967	54640967	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atactgcaatgcaagtgcttCgagatgcaggtgatttggcc	12	8	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:54640967C>T	ENST00000230640.5	+	10	1305	c.1051C>T	c.(1051-1053)Cga>Tga	p.R351*	SKIV2L2_ENST00000545714.1_Nonsense_Mutation_p.R250*	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	351					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GCAAGTGCTTCGAGATGCAGG	0.358																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5																			0				NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1051-1053)Cga>Tga		superkiller viralicidic activity 2-like 2 (S. cerevisiae)							58	62	61					5																	54640967		2203	4300	6503	SO:0001587	stop_gained	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54640967C>T	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.1051C>T	5.37:g.54640967C>T	ENSP00000230640:p.Arg351*		Somatic				SKIV2L2_ENST00000545714.1_Nonsense_Mutation_p.R250*	p.R351*	NM_015360.4	NP_056175.3	WXS	Illumina GAIIx	Phase_I	P42285	SK2L2_HUMAN			10	1305	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	351					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Nonsense_Mutation	SNP	ENST00000230640.5	37	c.1051C>T	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166685	0.94768	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	.	.	.	5.38	4.39	0.52855	.	0.110908	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-17.1855	13.2486	0.60039	0.2673:0.7327:0.0:0.0	.	.	.	.	X	351;250	.	ENSP00000230640:R351X	R	+	1	2	SKIV2L2	54676724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.078000	0.57606	2.681000	0.91329	0.585000	0.79938	CGA		0.358	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			8	18	0	0	0	1	0	8	18					T	54640967	C	T	54640967	4	4	48	1	0	0	0	0	0	1	0	0	14375	876	31	1	1089	1	SKIV2L2	5	54640967	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	311265	54640967	126274293	1444	5912										
SLC38A9	153129	broad.mit.edu	37	chr5	54931420	54931420	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgaaggaaatgaagcaaaAaccaggactccaatatagag	11	6	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:54931420A>C	ENST00000396865.2	-	13	1824	c.1233T>G	c.(1231-1233)gtT>gtG	p.V411V	SLC38A9_ENST00000318672.3_Silent_p.V411V|SLC38A9_ENST00000416547.2_Silent_p.V287V|SLC38A9_ENST00000539768.1_Silent_p.V411V|SLC38A9_ENST00000512595.1_Silent_p.V348V|SLC38A9_ENST00000515629.1_Silent_p.V348V	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	411					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				ATGAAGCAAAAACCAGGACTC	0.388																																						ENST00000539768.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(1231-1233)gtT>gtG		solute carrier family 38, member 9							107	101	103					5																	54931420		2203	4300	6503	SO:0001819	synonymous_variant	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54931420A>C		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"Solute carriers"	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1233T>G	5.37:g.54931420A>C			Somatic				SLC38A9_ENST00000396865.2_Silent_p.V411V|SLC38A9_ENST00000416547.2_Silent_p.V287V|SLC38A9_ENST00000318672.3_Silent_p.V411V|SLC38A9_ENST00000512595.1_Silent_p.V348V|SLC38A9_ENST00000515629.1_Silent_p.V348V	p.V411V			WXS	Illumina GAIIx	Phase_I	Q8NBW4	S38A9_HUMAN			11	1232	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	411					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Silent	SNP	ENST00000396865.2	37	c.1233T>G	CCDS3968.1																																																																																				0.388	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		23	33	0	0	0	1	0	23	33					C	54931420	A	C	54931420	2	2	48	1	0	0	0	0	0	0	0	1	14626	1	1	4		4	SLC38A9	5	54931420	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	290453	54931420	125983840	1445	5913										
SLC38A9	153129	broad.mit.edu	37	chr5	54948368	54948368	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actacttacctaggatattaAattttgaaaaaaatgaagga	6	4	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:54948368A>C	ENST00000396865.2	-	10	1532	c.941T>G	c.(940-942)tTt>tGt	p.F314C	SLC38A9_ENST00000318672.3_Missense_Mutation_p.F314C|SLC38A9_ENST00000416547.2_Missense_Mutation_p.F190C|SLC38A9_ENST00000539768.1_Missense_Mutation_p.F314C|SLC38A9_ENST00000512595.1_Missense_Mutation_p.F287C|SLC38A9_ENST00000515629.1_Missense_Mutation_p.F251C	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	314					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TAGGATATTAAATTTTGAAAA	0.403																																						ENST00000539768.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(940-942)tTt>tGt		solute carrier family 38, member 9							40	41	41					5																	54948368		2203	4300	6503	SO:0001583	missense	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54948368A>C		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"Solute carriers"	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.941T>G	5.37:g.54948368A>C	ENSP00000380074:p.Phe314Cys		Somatic				SLC38A9_ENST00000396865.2_Missense_Mutation_p.F314C|SLC38A9_ENST00000416547.2_Missense_Mutation_p.F190C|SLC38A9_ENST00000318672.3_Missense_Mutation_p.F314C|SLC38A9_ENST00000512595.1_Missense_Mutation_p.F287C|SLC38A9_ENST00000515629.1_Missense_Mutation_p.F251C	p.F314C			WXS	Illumina GAIIx	Phase_I	Q8NBW4	S38A9_HUMAN			8	940	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	314					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Missense_Mutation	SNP	ENST00000396865.2	37	c.941T>G	CCDS3968.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.256565	0.80246	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000539768;ENST00000515629;ENST00000416547;ENST00000512595	T;T;T;T;T;T	0.39229	4.28;4.28;4.28;4.28;4.28;1.09	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.70197	-0.4938	10	0.46703	T	0.11	-2.7095	15.7952	0.78404	1.0:0.0:0.0:0.0	.	287;314	B3KXV1;Q8NBW4	.;S38A9_HUMAN	C	314;314;314;251;190;287	ENSP00000380074:F314C;ENSP00000316596:F314C;ENSP00000437771:F314C;ENSP00000420934:F251C;ENSP00000397429:F190C;ENSP00000427335:F287C	ENSP00000316596:F314C	F	-	2	0	SLC38A9	54984125	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.005000	0.88553	2.271000	0.75665	0.533000	0.62120	TTT		0.403	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		6	16	0	0	0	1	0	6	16					C	54948368	A	C	54948368	3	2	48	1	0	0	0	0	1	0	0	0	14626	14	1	4	772	4	SLC38A9	5	54948368	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	16948	54948368	125966892	1446	5914										
DDX4	54514	broad.mit.edu	37	chr5	55076927	55076927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccagacgaatgtatgcagcGcactggtggcctttttggtt	12	10	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:55076927G>A	ENST00000505374.1	+	9	622	c.530G>A	c.(529-531)cGc>cAc	p.R177H	DDX4_ENST00000354991.5_Missense_Mutation_p.R143H|DDX4_ENST00000511853.1_Missense_Mutation_p.R44H|DDX4_ENST00000514278.2_Missense_Mutation_p.R157H|DDX4_ENST00000353507.5_Missense_Mutation_p.R143H	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	177	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TGTATGCAGCGCACTGGTGGC	0.338																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(529-531)cGc>cAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							103	103	103					5																	55076927		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55076927G>A	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.530G>A	5.37:g.55076927G>A	ENSP00000424838:p.Arg177His		Somatic				DDX4_ENST00000354991.5_Missense_Mutation_p.R143H|DDX4_ENST00000514278.2_Missense_Mutation_p.R157H|DDX4_ENST00000511853.1_Missense_Mutation_p.R44H|DDX4_ENST00000353507.5_Missense_Mutation_p.R143H	p.R177H	NM_024415.2	NP_077726.1	WXS	Illumina GAIIx	Phase_I	Q9NQI0	DDX4_HUMAN			9	622	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	177			Gly-rich.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.530G>A	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241943	0.22796	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	T;T;T;T;T;T	0.23147	1.93;1.92;1.92;3.43;1.93;1.92	5.39	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.26085	0.0636	N	0.22421	0.69	0.23063	N	0.998351	P;D;P;D	0.60160	0.951;0.983;0.95;0.987	P;P;P;P	0.52627	0.518;0.609;0.548;0.704	T	0.06144	-1.0843	10	0.41790	T	0.15	-23.5032	12.0965	0.53757	0.0:0.1721:0.8279:0.0	.	157;44;143;177	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	H	143;157;177;157;143;44	ENSP00000334167:R143H;ENSP00000425359:R157H;ENSP00000424838:R177H;ENSP00000427167:R157H;ENSP00000347087:R143H;ENSP00000423123:R44H	ENSP00000334167:R143H	R	+	2	0	DDX4	55112684	0.935000	0.31712	0.275000	0.24674	0.005000	0.04900	2.780000	0.47742	1.496000	0.48567	-0.172000	0.13284	CGC		0.338	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		14	34	0	0	0	1	0	14	34					A	55076927	G	A	55076927	3	1	48	1	0	0	0	0	1	0	0	0	4362	1087	38	1	601	1	DDX4	5	55076927	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	128559	55076927	125838333	1447	5915										
DDX4	54514	broad.mit.edu	37	chr5	55081645	55081645	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaggcataaacttcgacaaAtacgacactattcttgtgga	7	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:55081645A>C	ENST00000505374.1	+	13	902	c.810A>C	c.(808-810)aaA>aaC	p.K270N	DDX4_ENST00000354991.5_Missense_Mutation_p.K236N|DDX4_ENST00000511853.1_Missense_Mutation_p.K121N|DDX4_ENST00000514278.2_Missense_Mutation_p.K250N|DDX4_ENST00000353507.5_Missense_Mutation_p.K236N	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	270					male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTTCGACAAATACGACACTA	0.428																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(808-810)aaA>aaC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							98	81	87					5																	55081645		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55081645A>C	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.810A>C	5.37:g.55081645A>C	ENSP00000424838:p.Lys270Asn		Somatic				DDX4_ENST00000354991.5_Missense_Mutation_p.K236N|DDX4_ENST00000514278.2_Missense_Mutation_p.K250N|DDX4_ENST00000511853.1_Missense_Mutation_p.K121N|DDX4_ENST00000353507.5_Missense_Mutation_p.K236N	p.K270N	NM_024415.2	NP_077726.1	WXS	Illumina GAIIx	Phase_I	Q9NQI0	DDX4_HUMAN			13	902	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	270					A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.810A>C	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.019757	0.54576	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.29	1.6	0.23607	.	0.000000	0.85682	D	0.000000	T	0.52108	0.1714	L	0.47078	1.49	0.53688	D	0.999974	P;D;P;D	0.89917	0.709;1.0;0.813;1.0	B;D;B;D	0.85130	0.281;0.997;0.281;0.987	T	0.45702	-0.9243	10	0.62326	D	0.03	-21.6537	8.7984	0.34894	0.6546:0.0:0.3454:0.0	.	250;121;236;270	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	N	236;250;270;250;236;121	ENSP00000334167:K236N;ENSP00000425359:K250N;ENSP00000424838:K270N;ENSP00000427167:K250N;ENSP00000347087:K236N;ENSP00000423123:K121N	ENSP00000334167:K236N	K	+	3	2	DDX4	55117402	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.546000	0.36179	0.040000	0.15660	0.533000	0.62120	AAA		0.428	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		13	29	0	0	0	1	0	13	29					C	55081645	A	C	55081645	3	2	48	1	0	0	0	0	1	0	0	0	4362	98	4	4	897	4	DDX4	5	55081645	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	4718	55081645	125833615	1448	5916										
DDX4	54514	broad.mit.edu	37	chr5	55109548	55109548	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaactaagaaaaaagcagatTttattgcaacttttctttgt	5	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:55109548T>G	ENST00000505374.1	+	19	1755	c.1663T>G	c.(1663-1665)Ttt>Gtt	p.F555V	DDX4_ENST00000354991.5_Missense_Mutation_p.F521V|DDX4_ENST00000511853.1_Missense_Mutation_p.F406V|DDX4_ENST00000514278.2_Missense_Mutation_p.F535V|DDX4_ENST00000353507.5_Missense_Mutation_p.F521V	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	555	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AAAAGCAGATTTTATTGCAAC	0.289																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1663-1665)Ttt>Gtt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							90	108	102					5																	55109548		2202	4299	6501	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55109548T>G	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1663T>G	5.37:g.55109548T>G	ENSP00000424838:p.Phe555Val		Somatic				DDX4_ENST00000354991.5_Missense_Mutation_p.F521V|DDX4_ENST00000514278.2_Missense_Mutation_p.F535V|DDX4_ENST00000511853.1_Missense_Mutation_p.F406V|DDX4_ENST00000353507.5_Missense_Mutation_p.F521V	p.F555V	NM_024415.2	NP_077726.1	WXS	Illumina GAIIx	Phase_I	Q9NQI0	DDX4_HUMAN			19	1755	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	555			Helicase C-terminal.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.1663T>G	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.924444	0.73213	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	6.17	6.17	0.99709	Helicase, C-terminal (2);	0.049562	0.85682	D	0.000000	D	0.91784	0.7401	L	0.31420	0.93	0.38795	D	0.955068	B;B;P;D	0.61697	0.155;0.429;0.874;0.99	B;B;P;P	0.58620	0.081;0.214;0.778;0.842	D	0.92816	0.6268	10	0.59425	D	0.04	-6.0445	12.6398	0.56702	0.0:0.0:0.1377:0.8623	.	535;406;521;555	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	V	521;535;555;521;406	ENSP00000334167:F521V;ENSP00000425359:F535V;ENSP00000424838:F555V;ENSP00000347087:F521V;ENSP00000423123:F406V	ENSP00000334167:F521V	F	+	1	0	DDX4	55145305	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.814000	0.55643	2.371000	0.80710	0.533000	0.62120	TTT		0.289	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		42	61	0	0	0	1	0	42	61					G	55109548	T	G	55109548	3	3	48	1	0	0	0	0	1	0	0	0	4362	1841	64	4	1774	4	DDX4	5	55109548	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	27903	55109548	125805712	1449	5917										
IL31RA	133396	broad.mit.edu	37	chr5	55195809	55195809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atatggtactatccagaaagCaacactaacctcacagaaac	5	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:55195809C>T	ENST00000447346.2	+	8	983	c.918C>T	c.(916-918)agC>agT	p.S306S	IL31RA_ENST00000396836.2_Silent_p.S306S|IL31RA_ENST00000297015.3_Silent_p.S164S|IL31RA_ENST00000359040.5_Silent_p.S306S|IL31RA_ENST00000490985.1_Silent_p.S164S|IL31RA_ENST00000354961.4_Silent_p.S287S|IL31RA_ENST00000396834.1_Silent_p.S287S	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	274	Fibronectin type-III 3. {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)				ATCCAGAAAGCAACACTAACC	0.413																																						ENST00000396834.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(859-861)agC>agT		interleukin 31 receptor A							130	131	131					5																	55195809		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:55195809C>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.918C>T	5.37:g.55195809C>T			Somatic				IL31RA_ENST00000396836.2_Silent_p.S306S|IL31RA_ENST00000447346.2_Silent_p.S306S|IL31RA_ENST00000490985.1_Silent_p.S164S|IL31RA_ENST00000354961.4_Silent_p.S287S|IL31RA_ENST00000359040.5_Silent_p.S306S|IL31RA_ENST00000297015.3_Silent_p.S164S	p.S287S	NM_001242638.1	NP_001229567.1	WXS	Illumina GAIIx	Phase_I	Q8NI17	IL31R_HUMAN			10	1357	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	274			Fibronectin type-III 3.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Silent	SNP	ENST00000447346.2	37	c.861C>T	CCDS3970.2																																																																																				0.413	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		47	70	0	0	0	1	0	47	70					T	55195809	C	T	55195809	2	4	48	1	0	0	0	0	0	0	0	1	7700	709	25	3		3	IL31RA	5	55195809	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	86261	55195809	125719451	1450	5918										
GPBP1	65056	broad.mit.edu	37	chr5	56545382	56545382	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagaggaacatgaagatgaAagccgtgctggctcagagaa	14	6	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:56545382A>G	ENST00000506184.2	+	9	2056	c.951A>G	c.(949-951)gaA>gaG	p.E317E	GPBP1_ENST00000424459.3_Silent_p.E337E|GPBP1_ENST00000511209.1_Silent_p.E309E|GPBP1_ENST00000514387.2_Silent_p.E146E|GPBP1_ENST00000538707.1_Silent_p.E324E|GPBP1_ENST00000454432.2_Silent_p.E337E|GPBP1_ENST00000264779.6_Silent_p.E324E			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	317					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		ATGAAGATGAAAGCCGTGCTG	0.373																																						ENST00000424459.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1009-1011)gaA>gaG		GC-rich promoter binding protein 1							92	92	92					5																	56545382		2201	4299	6500	SO:0001819	synonymous_variant	65056				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:56545382A>G		CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.951A>G	5.37:g.56545382A>G			Somatic				GPBP1_ENST00000506184.2_Silent_p.E317E|GPBP1_ENST00000511209.1_Silent_p.E309E|GPBP1_ENST00000514387.2_Silent_p.E146E|GPBP1_ENST00000538707.1_Silent_p.E324E|GPBP1_ENST00000264779.6_Silent_p.E324E|GPBP1_ENST00000454432.2_Silent_p.E337E	p.E337E	NM_022913.3	NP_075064.1	WXS	Illumina GAIIx	Phase_I	Q86WP2	GPBP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)	10	2285	+		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)	317					A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Silent	SNP	ENST00000506184.2	37	c.1011A>G	CCDS34162.1																																																																																				0.373	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		21	26	0	0	0	1	0	21	26					G	56545382	A	G	56545382	2	3	48	1	0	0	0	0	0	0	0	1	6603	11	1	4		4	GPBP1	5	56545382	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1349573	56545382	124369878	1451	5919										
ELOVL7	79993	broad.mit.edu	37	chr5	60053346	60053346	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aattactcacaagctgtaatGatgtcaaatattttttccac	4	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:60053346G>T	ENST00000508821.1	-	8	940	c.626C>A	c.(625-627)tCa>tAa	p.S209*	ELOVL7_ENST00000425382.1_Nonsense_Mutation_p.S209*|ELOVL7_ENST00000438340.1_Nonsense_Mutation_p.S209*|ELOVL7_ENST00000505959.1_Nonsense_Mutation_p.S196*	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	209					cellular lipid metabolic process (GO:0044255)|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)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				AAGCTGTAATGATGTCAAATA	0.353																																						ENST00000505959.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9						c.(586-588)tCa>tAa		ELOVL fatty acid elongase 7							78	78	78					5																	60053346		2203	4300	6503	SO:0001587	stop_gained	79993				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.chr5:60053346G>T	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"ELOVL family member 7, elongation of long chain fatty acids (yeast)"			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.626C>A	5.37:g.60053346G>T	ENSP00000424123:p.Ser209*		Somatic				ELOVL7_ENST00000438340.1_Nonsense_Mutation_p.S209*|ELOVL7_ENST00000508821.1_Nonsense_Mutation_p.S209*|ELOVL7_ENST00000425382.1_Nonsense_Mutation_p.S209*	p.S196*			WXS	Illumina GAIIx	Phase_I	A1L3X0	ELOV7_HUMAN			10	1113	-		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)	209					Q589T3|Q9H5D0|Q9NT66	Nonsense_Mutation	SNP	ENST00000508821.1	37	c.587C>A	CCDS34164.1	.	.	.	.	.	.	.	.	.	.	G	41	9.004868	0.99033	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959	.	.	.	5.56	5.56	0.83823	.	0.381222	0.29501	N	0.011970	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-8.0306	19.9052	0.97004	0.0:0.0:1.0:0.0	.	.	.	.	X	209;209;209;196	.	ENSP00000402634:S209X	S	-	2	0	ELOVL7	60089103	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.226000	0.72277	2.776000	0.95493	0.655000	0.94253	TCA		0.353	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1			18	45	1	0	1.33834e-09	1	1.61283e-09	18	45					T	60053346	G	T	60053346	4	4	48	1	0	0	0	0	0	1	0	0	5081	1294	45	2	227	2	ELOVL7	5	60053346	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3507964	60053346	120861914	1452	5920										
CENPK	64105	broad.mit.edu	37	chr5	64814413	64814413	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggccaaaaggaatcactaatTttgacatatggatcatgtgg	10	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:64814413T>G	ENST00000396679.1	-	11	913	c.699A>C	c.(697-699)aaA>aaC	p.K233N	CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000510693.1_Missense_Mutation_p.K170N|CENPK_ENST00000242872.3_Missense_Mutation_p.K233N|CENPK_ENST00000508421.1_Missense_Mutation_p.K203N|CENPK_ENST00000514814.1_Missense_Mutation_p.K233N	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	233					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AATCACTAATTTTGACATATG	0.343																																						ENST00000396679.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(697-699)aaA>aaC		centromere protein K							91	88	89					5																	64814413		2203	4300	6503	SO:0001583	missense	64105				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr5:64814413T>G	BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.699A>C	5.37:g.64814413T>G	ENSP00000379911:p.Lys233Asn		Somatic				CENPK_ENST00000514814.1_Missense_Mutation_p.K233N|CENPK_ENST00000510693.1_Missense_Mutation_p.K170N|CENPK_ENST00000508421.1_Missense_Mutation_p.K203N|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000242872.3_Missense_Mutation_p.K233N	p.K233N	NM_022145.4	NP_071428.2	WXS	Illumina GAIIx	Phase_I	Q9BS16	CENPK_HUMAN		Lung(70;0.00466)	11	913	-		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	233					Q9H4L0	Missense_Mutation	SNP	ENST00000396679.1	37	c.699A>C	CCDS3984.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490741	0.64074	.	.	ENSG00000123219	ENST00000514814;ENST00000396679;ENST00000242872;ENST00000508421;ENST00000510693	.	.	.	5.77	5.77	0.91146	.	0.334926	0.34291	N	0.004082	T	0.53867	0.1823	L	0.54323	1.7	0.29893	N	0.82502	P	0.50369	0.934	P	0.52856	0.711	T	0.56577	-0.7956	9	0.36615	T	0.2	-20.4602	12.0114	0.53289	0.0:0.0:0.1441:0.8559	.	233	Q9BS16	CENPK_HUMAN	N	233;233;233;203;170	.	ENSP00000242872:K233N	K	-	3	2	CENPK	64850169	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.794000	0.26958	2.197000	0.70478	0.455000	0.32223	AAA		0.343	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253971.2	NM_022145		17	34	0	0	0	1	0	17	34					G	64814413	T	G	64814413	3	3	48	1	0	0	0	0	1	0	0	0	3237	1838	64	4	114	4	CENPK	5	64814413	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	4761067	64814413	116100847	1453	5921										
TRIM23	373	broad.mit.edu	37	chr5	64907456	64907456	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accctggtgttttccatattCtttgcagacacagcacatga	7	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:64907456C>A	ENST00000231524.9	-	4	990	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	TRIM23_ENST00000381018.3_Nonsense_Mutation_p.E207*|TRIM23_ENST00000274327.7_Nonsense_Mutation_p.E207*|TRIM23_ENST00000508808.1_5'Flank	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	207					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TTTCCATATTCTTTGCAGACA	0.418																																						ENST00000231524.9																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(619-621)Gaa>Taa		tripartite motif containing 23							154	150	151					5																	64907456		2203	4300	6503	SO:0001587	stop_gained	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64907456C>A	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	660	protein-coding gene	gene with protein product		601747	"ADP-ribosylation factor domain protein 1, 64kDa", "tripartite motif-containing 23"	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.619G>T	5.37:g.64907456C>A	ENSP00000231524:p.Glu207*		Somatic				TRIM23_ENST00000274327.7_Nonsense_Mutation_p.E207*|TRIM23_ENST00000381018.3_Nonsense_Mutation_p.E207*	p.E207*	NM_001656.3	NP_001647.1	WXS	Illumina GAIIx	Phase_I	P36406	TRI23_HUMAN		Lung(70;0.00473)	4	990	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	207					Q9BZY4|Q9BZY5	Nonsense_Mutation	SNP	ENST00000231524.9	37	c.619G>T	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502529	0.85176	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1363	0.89620	0.0:1.0:0.0:0.0	.	.	.	.	X	207	.	ENSP00000231524:E207X	E	-	1	0	TRIM23	64943212	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.421000	0.80204	2.347000	0.79759	0.491000	0.48974	GAA		0.418	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		24	47	1	0	3.08376e-08	1	3.62155e-08	24	47					A	64907456	C	A	64907456	4	1	48	1	0	0	0	0	0	1	0	0	16512	922	32	2	1204	2	TRIM23	5	64907456	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	93043	64907456	116007804	1454	5922										
SGTB	54557	broad.mit.edu	37	chr5	65016598	65016598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actttgttcccgtaagaaacGaataactgcataaaccaggt	7	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:65016598G>A	ENST00000381007.4	-	2	272	c.37C>T	c.(37-39)Cgt>Tgt	p.R13C	NLN_ENST00000502464.1_5'Flank|NLN_ENST00000380985.5_5'Flank	NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	13										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		CGTAAGAAACGAATAACTGCA	0.328																																						ENST00000381007.4																			0				large_intestine(3)|lung(3)|skin(3)	9						c.(37-39)Cgt>Tgt		small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta							107	104	105					5																	65016598		2203	4300	6503	SO:0001583	missense	54557						binding	g.chr5:65016598G>A	AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"Tetratricopeptide (TTC) repeat domain containing"	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.37C>T	5.37:g.65016598G>A	ENSP00000370395:p.Arg13Cys		Somatic					p.R13C	NM_019072.2	NP_061945.1	WXS	Illumina GAIIx	Phase_I	Q96EQ0	SGTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)	2	272	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)	13						Missense_Mutation	SNP	ENST00000381007.4	37	c.37C>T	CCDS3988.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339221	0.81911	.	.	ENSG00000197860	ENST00000381007;ENST00000506816	T;T	0.61742	0.08;0.09	5.37	5.37	0.77165	.	0.183165	0.50627	D	0.000116	T	0.52917	0.1764	L	0.34521	1.04	0.54753	D	0.999989	D	0.62365	0.991	P	0.44860	0.462	T	0.59386	-0.7464	10	0.66056	D	0.02	-1.5223	17.8898	0.88867	0.0:0.0:1.0:0.0	.	13	Q96EQ0	SGTB_HUMAN	C	13	ENSP00000370395:R13C;ENSP00000421447:R13C	ENSP00000370395:R13C	R	-	1	0	SGTB	65052354	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.483000	0.81158	2.502000	0.84385	0.563000	0.77884	CGT		0.328	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215057.2	NM_019072		11	23	0	0	0	1	0	11	23					A	65016598	G	A	65016598	3	1	48	1	0	0	0	0	1	0	0	0	14241	1058	37	1	917	1	SGTB	5	65016598	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	109142	65016598	115898662	1455	5923										
MAST4	375449	broad.mit.edu	37	chr5	66448468	66448468	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggcttctttgttacagataTgtttgctgtttcccctctgg	9	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:66448468T>C	ENST00000403625.2	+	25	3594	c.3299T>C	c.(3298-3300)aTg>aCg	p.M1100T	MAST4_ENST00000405643.1_Missense_Mutation_p.M921T|MAST4_ENST00000403666.1_Missense_Mutation_p.M911T|MAST4_ENST00000261569.7_Missense_Mutation_p.M906T|MAST4_ENST00000404260.3_Missense_Mutation_p.M1103T	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1103	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)		GTTACAGATATGTTTGCTGTT	0.542																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(3307-3309)aTg>aCg		microtubule associated serine/threonine kinase family member 4							116	116	116					5																	66448468		1956	4166	6122	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66448468T>C	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.3299T>C	5.37:g.66448468T>C	ENSP00000385727:p.Met1100Thr		Somatic				MAST4_ENST00000405643.1_Missense_Mutation_p.M921T|MAST4_ENST00000403666.1_Missense_Mutation_p.M911T|MAST4_ENST00000261569.7_Missense_Mutation_p.M906T|MAST4_ENST00000403625.2_Missense_Mutation_p.M1100T	p.M1103T			WXS	Illumina GAIIx	Phase_I	O15021	MAST4_HUMAN		Lung(70;0.011)	25	3616	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1103			Ser-rich.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.3308T>C	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.876790	0.33162	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.63744	-0.04;-0.04;-0.06;-0.06;-0.04	6.17	5.03	0.67393	.	0.236312	0.45867	D	0.000337	T	0.40322	0.1112	N	0.08118	0	0.26566	N	0.973648	B;B	0.31581	0.329;0.055	B;B	0.32762	0.152;0.041	T	0.28776	-1.0033	10	0.21540	T	0.41	-30.6796	11.8368	0.52330	0.0:0.0673:0.0:0.9327	.	1103;911	O15021;O15021-3	MAST4_HUMAN;.	T	1103;1100;911;921;921;906;839	ENSP00000385048:M1103T;ENSP00000385727:M1100T;ENSP00000384313:M911T;ENSP00000384099:M921T;ENSP00000261569:M906T	ENSP00000261569:M906T	M	+	2	0	MAST4	66484224	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.695000	0.47043	2.371000	0.80710	0.533000	0.62120	ATG		0.542	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			41	66	0	0	0	1	0	41	66					C	66448468	T	C	66448468	3	2	48	1	0	0	0	0	1	0	0	0	9336	1464	51	4	3527	4	MAST4	5	66448468	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1431870	66448468	114466792	1456	5924										
CD180	4064	broad.mit.edu	37	chr5	66479942	66479942	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagactgagtagtagagttCtgcagaccattgaatataac	10	6	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:66479942C>T	ENST00000256447.4	-	3	886	c.729G>A	c.(727-729)caG>caA	p.Q243Q		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	243					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)		TAGTAGAGTTCTGCAGACCAT	0.408																																						ENST00000256447.4																			0				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34						c.(727-729)caG>caA		CD180 molecule							82	88	86					5																	66479942		2203	4300	6503	SO:0001819	synonymous_variant	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66479942C>T	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.729G>A	5.37:g.66479942C>T			Somatic					p.Q243Q	NM_005582.2	NP_005573.2	WXS	Illumina GAIIx	Phase_I	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	886	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	243					B2R7Z7|Q32MM5	Silent	SNP	ENST00000256447.4	37	c.729G>A	CCDS3992.1																																																																																				0.408	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		25	43	0	0	0	1	0	25	43					T	66479942	C	T	66479942	2	4	48	1	0	0	0	0	0	0	0	1	2974	912	32	3		3	CD180	5	66479942	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	31474	66479942	114435318	1457	5925										
OCLN	100506658	broad.mit.edu	37	chr5	68805396	68805396	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgatctttgttaccagtgTtataagatctgaaatgtcca	9	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:68805396T>C	ENST00000355237.2	+	3	915	c.479T>C	c.(478-480)gTt>gCt	p.V160A	OCLN_ENST00000538151.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.V160A|OCLN_ENST00000396442.2_Missense_Mutation_p.V160A|OCLN_ENST00000542132.1_Intron	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	160	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GTTACCAGTGTTATAAGATCT	0.438																																						ENST00000355237.2																			0				endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6						c.(478-480)gTt>gCt		occludin							190	152	165					5																	68805396		2203	4300	6503	SO:0001583	missense	100506658				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	g.chr5:68805396T>C	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"tight junction protein occludin TM4 minus", "phosphatase 1, regulatory subunit 115"	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.479T>C	5.37:g.68805396T>C	ENSP00000347379:p.Val160Ala		Somatic				OCLN_ENST00000396442.2_Missense_Mutation_p.V160A|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.V160A	p.V160A	NM_002538.3	NP_002529.1	WXS	Illumina GAIIx	Phase_I	Q16625	OCLN_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	3	915	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	160			MARVEL.		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	ENST00000355237.2	37	c.479T>C	CCDS4006.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168076	0.78339	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000380766	T;T;T	0.27104	1.69;1.69;1.69	5.82	5.82	0.92795	Marvel (1);MARVEL-like domain (1);	0.110120	0.64402	D	0.000009	T	0.52613	0.1745	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.56944	-0.7895	10	0.72032	D	0.01	-25.996	15.1665	0.72833	0.0:0.0:0.0:1.0	.	160	Q16625	OCLN_HUMAN	A	160	ENSP00000347379:V160A;ENSP00000379719:V160A;ENSP00000370143:V160A	ENSP00000347379:V160A	V	+	2	0	OCLN	68841152	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	6.245000	0.72398	2.222000	0.72286	0.533000	0.62120	GTT		0.438	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538		49	72	0	0	0	1	0	49	72					C	68805396	T	C	68805396	3	2	48	1	0	0	0	0	1	0	0	0	10829	1725	60	4	485	4	OCLN	5	68805396	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2325454	68805396	112109864	1458	5926										
CARTPT	9607	broad.mit.edu	37	chr5	71015769	71015769	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtgttcccatctatgagaaGaagtatggccaagtccccat	9	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71015769G>T	ENST00000296777.4	+	2	353	c.222G>T	c.(220-222)aaG>aaT	p.K74N	CARTPT_ENST00000513096.1_3'UTR	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	74					activation of MAPKK activity (GO:0000186)|adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|circadian regulation of gene expression (GO:0032922)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of appetite (GO:0032099)|negative regulation of bone resorption (GO:0045779)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of osteoclast differentiation (GO:0045671)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of epinephrine secretion (GO:0032812)|positive regulation of transmission of nerve impulse (GO:0051971)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|somatostatin secretion (GO:0070253)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|secretory granule (GO:0030141)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	TCTATGAGAAGAAGTATGGCC	0.498																																						ENST00000296777.4																			0				large_intestine(1)|lung(2)|ovary(1)	4						c.(220-222)aaG>aaT		CART prepropeptide	Amphetamine(DB00182)						180	159	166					5																	71015769		2203	4300	6503	SO:0001583	missense	9607				activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space		g.chr5:71015769G>T	U16826	CCDS4011.1	5q13.2	2008-02-05			ENSG00000164326	ENSG00000164326			24323	protein-coding gene	gene with protein product	"cocaine and amphetamine regulated transcript"	602606				9590691, 8647455	Standard	NM_004291		Approved	CART	uc003kbv.2	Q16568	OTTHUMG00000131261	ENST00000296777.4:c.222G>T	5.37:g.71015769G>T	ENSP00000296777:p.Lys74Asn		Somatic				CARTPT_ENST00000513096.1_3'UTR	p.K74N	NM_004291.3	NP_004282.1	WXS	Illumina GAIIx	Phase_I	Q16568	CART_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	2	353	+		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)	74					Q6FG92	Missense_Mutation	SNP	ENST00000296777.4	37	c.222G>T	CCDS4011.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884196	0.72410	.	.	ENSG00000164326	ENST00000296777	T	0.61158	0.13	5.02	3.94	0.45596	.	0.051827	0.85682	D	0.000000	T	0.69895	0.3162	M	0.64997	1.995	0.51767	D	0.999932	D	0.76494	0.999	D	0.87578	0.998	T	0.72151	-0.4377	10	0.87932	D	0	.	9.7384	0.40401	0.1825:0.0:0.8175:0.0	.	74	Q16568	CART_HUMAN	N	74	ENSP00000296777:K74N	ENSP00000296777:K74N	K	+	3	2	CARTPT	71051525	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.962000	0.70364	2.340000	0.79590	0.655000	0.94253	AAG		0.498	CARTPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254029.2	NM_004291		27	56	1	0	7.26314e-15	1	9.49782e-15	27	56					T	71015769	G	T	71015769	3	4	48	1	0	0	0	0	1	0	0	0	2661	933	33	2	228	2	CARTPT	5	71015769	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2210373	71015769	109899491	1459	5927										
MAP1B	4131	broad.mit.edu	37	chr5	71489773	71489773	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgaagaaggggactggaaGaactccaatcttgacagaca	11	9	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71489773G>T	ENST00000296755.7	+	5	889	c.591G>T	c.(589-591)aaG>aaT	p.K197N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	197					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)		GGGACTGGAAGAACTCCAATC	0.433																																					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.(589-591)aaG>aaT		microtubule-associated protein 1B							91	88	89					5																	71489773		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71489773G>T	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.591G>T	5.37:g.71489773G>T	ENSP00000296755:p.Lys197Asn		Somatic					p.K197N	NM_005909.3	NP_005900.2	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	889	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	197					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.591G>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482934	0.44147	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.20200	2.09;3.55;2.09	6.08	4.21	0.49690	.	0.000000	0.64402	D	0.000001	T	0.39253	0.1071	L	0.59436	1.845	0.51482	D	0.999928	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.972	T	0.11084	-1.0602	10	0.62326	D	0.03	-22.6837	10.5904	0.45306	0.2316:0.0:0.7684:0.0	.	71;197	A2BDK6;P46821	.;MAP1B_HUMAN	N	197;214;71	ENSP00000296755:K197N;ENSP00000423444:K214N;ENSP00000423416:K71N	ENSP00000296755:K197N	K	+	3	2	MAP1B	71525529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.726000	0.47302	0.811000	0.34303	0.591000	0.81541	AAG		0.433	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		30	46	1	0	2.70662e-09	1	3.24368e-09	30	46					T	71489773	G	T	71489773	3	4	48	1	0	0	0	0	1	0	0	0	9237	933	33	2	609	2	MAP1B	5	71489773	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	474004	71489773	109425487	1460	5928										
MAP1B	4131	broad.mit.edu	37	chr5	71491766	71491766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcctcagctggagctaatcGaagacgaagagaaactgaag	12	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71491766G>A	ENST00000296755.7	+	5	2882	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	862					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)		GGAGCTAATCGAAGACGAAGA	0.493																																					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.(2584-2586)Gaa>Aaa		microtubule-associated protein 1B							125	122	123					5																	71491766		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491766G>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.2584G>A	5.37:g.71491766G>A	ENSP00000296755:p.Glu862Lys		Somatic					p.E862K	NM_005909.3	NP_005900.2	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2882	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	862					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.2584G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768876	0.49680	.	.	ENSG00000131711	ENST00000296755	T	0.03272	3.99	5.34	5.34	0.76211	.	0.093811	0.45867	D	0.000337	T	0.03827	0.0108	L	0.36672	1.1	0.43559	D	0.995879	B;B	0.16802	0.019;0.004	B;B	0.09377	0.004;0.003	T	0.48258	-0.9051	10	0.28530	T	0.3	-13.4911	10.6014	0.45369	0.149:0.0:0.851:0.0	.	736;862	A2BDK6;P46821	.;MAP1B_HUMAN	K	862	ENSP00000296755:E862K	ENSP00000296755:E862K	E	+	1	0	MAP1B	71527522	1.000000	0.71417	0.724000	0.30704	0.112000	0.19704	5.618000	0.67722	2.490000	0.84030	0.591000	0.81541	GAA		0.493	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		9	196	0	0	0	1	0	9	196					A	71491766	G	A	71491766	3	1	48	1	0	0	0	0	1	0	0	0	9237	1059	37	1	2602	1	MAP1B	5	71491766	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1993	71491766	109423494	1461	5929										
MAP1B	4131	broad.mit.edu	37	chr5	71491928	71491928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgaggagctggagcccgtcGagaagcagggagtagacgac	17	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71491928G>A	ENST00000296755.7	+	5	3044	c.2746G>A	c.(2746-2748)Gag>Aag	p.E916K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	916					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)		GGAGCCCGTCGAGAAGCAGGG	0.502																																					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.(2746-2748)Gag>Aag		microtubule-associated protein 1B							69	75	73					5																	71491928		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491928G>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.2746G>A	5.37:g.71491928G>A	ENSP00000296755:p.Glu916Lys		Somatic					p.E916K	NM_005909.3	NP_005900.2	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	3044	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	916					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.2746G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519860	0.44866	.	.	ENSG00000131711	ENST00000296755	T	0.03607	3.87	5.44	5.44	0.79542	.	0.099289	0.44902	D	0.000406	T	0.03564	0.0102	L	0.42245	1.32	0.44302	D	0.997176	P;P	0.48640	0.913;0.913	B;B	0.31390	0.129;0.129	T	0.56739	-0.7929	10	0.09590	T	0.72	-15.1921	19.2467	0.93905	0.0:0.0:1.0:0.0	.	790;916	A2BDK6;P46821	.;MAP1B_HUMAN	K	916	ENSP00000296755:E916K	ENSP00000296755:E916K	E	+	1	0	MAP1B	71527684	1.000000	0.71417	0.944000	0.38274	0.082000	0.17680	7.244000	0.78228	2.557000	0.86248	0.591000	0.81541	GAG		0.502	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		7	134	0	0	0	1	0	7	134					A	71491928	G	A	71491928	3	1	48	1	0	0	0	0	1	0	0	0	9237	1059	37	1	2764	1	MAP1B	5	71491928	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	162	71491928	109423332	1462	5930										
MAP1B	4131	broad.mit.edu	37	chr5	71493698	71493698	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtttctcccacacaaataGatgtcagtcagtttggatct	7	9	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71493698G>T	ENST00000296755.7	+	5	4814	c.4516G>T	c.(4516-4518)Gat>Tat	p.D1506Y		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1506					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)		CACACAAATAGATGTCAGTCA	0.428																																					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.(4516-4518)Gat>Tat		microtubule-associated protein 1B							129	125	126					5																	71493698		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493698G>T	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.4516G>T	5.37:g.71493698G>T	ENSP00000296755:p.Asp1506Tyr		Somatic					p.D1506Y	NM_005909.3	NP_005900.2	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	4814	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1506					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.4516G>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569993	0.45798	.	.	ENSG00000131711	ENST00000296755	T	0.04758	3.56	5.55	5.55	0.83447	.	0.083209	0.51477	D	0.000087	T	0.10252	0.0251	N	0.24115	0.695	0.46185	D	0.998913	D;D	0.89917	0.999;1.0	D;D	0.63488	0.915;0.915	T	0.05146	-1.0903	10	0.72032	D	0.01	-24.3593	12.8047	0.57607	0.0748:0.0:0.9252:0.0	.	1380;1506	A2BDK6;P46821	.;MAP1B_HUMAN	Y	1506	ENSP00000296755:D1506Y	ENSP00000296755:D1506Y	D	+	1	0	MAP1B	71529454	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.364000	0.79526	2.627000	0.88993	0.561000	0.74099	GAT		0.428	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		27	47	1	0	1.66031e-10	1	2.0393e-10	27	47					T	71493698	G	T	71493698	3	4	48	1	0	0	0	0	1	0	0	0	9237	942	33	2	4534	2	MAP1B	5	71493698	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1770	71493698	109421562	1463	5931										
MAP1B	4131	broad.mit.edu	37	chr5	71494405	71494405	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctcataccccttctcagatCgcttctcctctccaagaaga	5	16	4	3	rs550175931		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71494405C>T	ENST00000296755.7	+	5	5521	c.5223C>T	c.(5221-5223)atC>atT	p.I1741I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1741					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)		CTTCTCAGATCGCTTCTCCTC	0.488													C|||	1	0.000199681	0	0	5008	,	,		20609	0		0	False		,,,				2504	0.001				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.(5221-5223)atC>atT		microtubule-associated protein 1B							151	158	156					5																	71494405		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71494405C>T	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.5223C>T	5.37:g.71494405C>T			Somatic					p.I1741I	NM_005909.3	NP_005900.2	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5521	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1741					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.5223C>T	CCDS4012.1																																																																																				0.488	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		50	80	0	0	0	1	0	50	80					T	71494405	C	T	71494405	2	4	48	1	0	0	0	0	0	0	0	1	9237	874	31	1		1	MAP1B	5	71494405	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	707	71494405	109420855	1464	5932										
ZNF366	167465	broad.mit.edu	37	chr5	71756207	71756207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgggccaaggtggggaagtCgaggccgcactccacacaga	15	12	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71756207C>T	ENST00000318442.5	-	2	1607	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	373					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)		GTGGGGAAGTCGAGGCCGCAC	0.657																																						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.(1117-1119)Gac>Aac		zinc finger protein 366							99	85	90					5																	71756207		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756207C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1117G>A	5.37:g.71756207C>T	ENSP00000313158:p.Asp373Asn		Somatic					p.D373N	NM_152625.1	NP_689838.1	WXS	Illumina GAIIx	Phase_I	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1607	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	373					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.1117G>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114789	0.94339	.	.	ENSG00000178175	ENST00000318442	T	0.27720	1.65	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.64402	D	0.000002	T	0.40272	0.1110	N	0.11818	0.18	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.33548	-0.9864	10	0.33141	T	0.24	-54.9687	20.0505	0.97625	0.0:1.0:0.0:0.0	.	373	Q8N895	ZN366_HUMAN	N	373	ENSP00000313158:D373N	ENSP00000313158:D373N	D	-	1	0	ZNF366	71791963	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.818000	0.86416	2.739000	0.93911	0.561000	0.74099	GAC		0.657	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			20	35	0	0	0	1	0	20	35					T	71756207	C	T	71756207	3	4	48	1	0	0	0	0	1	0	0	0	17885	884	31	1	1133	1	ZNF366	5	71756207	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	261802	71756207	109159053	1465	5933										
TMEM174	134288	broad.mit.edu	37	chr5	72469090	72469090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatggagcagggcagcggccGcttggaggacttccctgtca	15	11	1	0	rs142247362	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:72469090G>A	ENST00000296776.5	+	1	69	c.20G>A	c.(19-21)cGc>cAc	p.R7H		NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	7						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GGCAGCGGCCGCTTGGAGGAC	0.552													G|||	3	0.000599042	0.0023	0	5008	,	,		17843	0		0	False		,,,				2504	0					ENST00000296776.5																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(19-21)cGc>cAc		transmembrane protein 174		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	117	116	116		20	-0.3	0	5	dbSNP_134	116	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TMEM174	NM_153217.2	29	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign	7/244	72469090	4,13002	2203	4300	6503	SO:0001583	missense	134288					integral to membrane		g.chr5:72469090G>A	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.20G>A	5.37:g.72469090G>A	ENSP00000296776:p.Arg7His		Somatic					p.R7H	NM_153217.2	NP_694949.1	WXS	Illumina GAIIx	Phase_I	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	1	69	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	7					B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	c.20G>A	CCDS4018.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	3.579	-0.085990	0.07097	4.54E-4	2.33E-4	ENSG00000164325	ENST00000296776	.	.	.	5.82	-0.288	0.12855	.	0.684499	0.14830	N	0.295888	T	0.07593	0.0191	N	0.01576	-0.805	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.30534	-0.9975	9	0.11794	T	0.64	-7.4656	1.8571	0.03181	0.3652:0.2129:0.3132:0.1087	.	7	Q8WUU8	TM174_HUMAN	H	7	.	ENSP00000296776:R7H	R	+	2	0	TMEM174	72504846	0.000000	0.05858	0.000000	0.03702	0.233000	0.25261	-0.533000	0.06157	-0.127000	0.11661	0.591000	0.81541	CGC		0.552	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217		10	148	0	0	0	1	0	10	148					A	72469090	G	A	72469090	3	1	48	1	0	0	0	0	1	0	0	0	16105	1087	38	1	22	1	TMEM174	5	72469090	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	712883	72469090	108446170	1466	5934										
RGNEF	64283	broad.mit.edu	37	chr5	73163927	73163927	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccctccctctctcctagctTcaggaggtcagccacatcct	6	19	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:73163927T>G	ENST00000426542.2	+	19	2320	c.2300T>G	c.(2299-2301)tTc>tGc	p.F767C	ARHGEF28_ENST00000437974.1_Missense_Mutation_p.F767C|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.F767C|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.F454C|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.F767C|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.F767C|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.F767C			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	767					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TCTCCTAGCTTCAGGAGGTCA	0.522																																						ENST00000545377.1																			0											c.(2299-2301)tTc>tGc		Rho guanine nucleotide exchange factor (GEF) 28							56	55	55					5																	73163927		1958	4152	6110	SO:0001583	missense	64283							g.chr5:73163927T>G		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.2300T>G	5.37:g.73163927T>G	ENSP00000412175:p.Phe767Cys		Somatic				ARHGEF28_ENST00000426542.2_Missense_Mutation_p.F767C|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.F454C|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.F767C|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.F767C|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.F767C|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.F767C	p.F767C	NM_001080479.2	NP_001073948.2	WXS	Illumina GAIIx	Phase_I					20	2476	+								B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.2300T>G	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.901685	0.33535	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.10668	3.07;3.07;3.06;2.85;3.07;3.06;2.89	5.35	2.93	0.34026	.	.	.	.	.	T	0.16041	0.0386	M	0.63428	1.95	0.27191	N	0.960416	P;P;P;D	0.53312	0.947;0.943;0.943;0.959	B;P;P;P	0.49012	0.408;0.525;0.525;0.598	T	0.13872	-1.0493	9	0.87932	D	0	.	5.0012	0.14266	0.0:0.2126:0.2753:0.512	.	454;767;767;767	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	C	767;767;767;767;767;767;454	ENSP00000296794:F767C;ENSP00000441913:F767C;ENSP00000441436:F767C;ENSP00000287898:F767C;ENSP00000411459:F767C;ENSP00000412175:F767C;ENSP00000296799:F454C	ENSP00000287898:F767C	F	+	2	0	RP11-428C6.1	73199683	0.048000	0.20356	0.998000	0.56505	0.285000	0.27093	-0.399000	0.07250	0.336000	0.23639	0.377000	0.23210	TTC		0.522	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			3	18	0	0	0	1	0	3	18					G	73163927	T	G	73163927	3	3	48	1	0	0	0	0	1	0	0	0	13298	1783	62	4	2374	4	RGNEF	5	73163927	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	694837	73163927	107751333	1467	5935										
RGNEF	64283	broad.mit.edu	37	chr5	73181709	73181709	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cataaagacttacgcaaagcGctttgcttaattaaagacat	6	8	0	2	rs180779810	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:73181709G>A	ENST00000426542.2	+	24	3110	c.3090G>A	c.(3088-3090)gcG>gcA	p.A1030A	ARHGEF28_ENST00000437974.1_Silent_p.A1030A|ARHGEF28_ENST00000545377.1_Silent_p.A1030A|ARHGEF28_ENST00000296799.4_Silent_p.A717A|ARHGEF28_ENST00000513042.2_Silent_p.A1030A|ARHGEF28_ENST00000296794.6_Silent_p.A1030A|ARHGEF28_ENST00000512883.1_5'Flank|ARHGEF28_ENST00000287898.5_Silent_p.A1030A			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1030	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TACGCAAAGCGCTTTGCTTAA	0.318													C|||	2	0.000399361	0	0.0014	5008	,	,		19274	0		0.001	False		,,,				2504	0					ENST00000545377.1																			0											c.(3088-3090)gcG>gcA		Rho guanine nucleotide exchange factor (GEF) 28		C	,	0,3644		0,0,1822	53	51	52		3090,3090	-3.6	0.8	5		52	1,8157		0,1,4078	no	coding-synonymous,coding-synonymous	RGNEF	NM_001080479.2,NM_001177693.1	,	0,1,5900	AA,AG,GG		0.0123,0.0,0.0085	,	1030/1732,1030/1706	73181709	1,11801	1822	4079	5901	SO:0001819	synonymous_variant	64283							g.chr5:73181709G>A		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.3090G>A	5.37:g.73181709G>A			Somatic				ARHGEF28_ENST00000426542.2_Silent_p.A1030A|ARHGEF28_ENST00000296799.4_Silent_p.A717A|ARHGEF28_ENST00000513042.2_Silent_p.A1030A|ARHGEF28_ENST00000437974.1_Silent_p.A1030A|ARHGEF28_ENST00000287898.5_Silent_p.A1030A|ARHGEF28_ENST00000296794.6_Silent_p.A1030A	p.A1030A	NM_001080479.2	NP_001073948.2	WXS	Illumina GAIIx	Phase_I					25	3266	+								B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	ENST00000426542.2	37	c.3090G>A	CCDS54870.1																																																																																				0.318	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			8	24	0	0	0	1	0	8	24					A	73181709	G	A	73181709	2	1	48	1	0	0	0	0	0	0	0	1	13298	1074	38	1		1	RGNEF	5	73181709	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	17782	73181709	107733551	1468	5936										
GCNT4	51301	broad.mit.edu	37	chr5	74325297	74325297	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccacagcctctaatttggaaGcaatgaaaatattggagaag	9	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:74325297G>T	ENST00000322348.4	-	1	1427	c.566C>A	c.(565-567)gCt>gAt	p.A189D		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	189					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)		TAATTTGGAAGCAATGAAAAT	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.(565-567)gCt>gAt		glucosaminyl (N-acetyl) transferase 4, core 2							105	107	107					5																	74325297		2203	4300	6503	SO:0001583	missense	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74325297G>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.566C>A	5.37:g.74325297G>T	ENSP00000317027:p.Ala189Asp		Somatic					p.A189D	NM_016591.2	NP_057675.1	WXS	Illumina GAIIx	Phase_I	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1427	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	189						Missense_Mutation	SNP	ENST00000322348.4	37	c.566C>A	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	22.8	4.340546	0.81911	.	.	ENSG00000176928	ENST00000322348	T	0.12465	2.68	6.17	6.17	0.99709	.	0.048151	0.85682	D	0.000000	T	0.49201	0.1543	M	0.90309	3.105	0.58432	D	0.999993	D	0.89917	1.0	D	0.81914	0.995	T	0.53899	-0.8373	10	0.87932	D	0	-12.9294	20.8794	0.99867	0.0:0.0:1.0:0.0	.	189	Q9P109	GCNT4_HUMAN	D	189	ENSP00000317027:A189D	ENSP00000317027:A189D	A	-	2	0	GCNT4	74361053	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.909000	0.87444	2.941000	0.99782	0.655000	0.94253	GCT		0.398	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		40	66	1	0	3.61848e-18	1	4.89221e-18	40	66					T	74325297	G	T	74325297	3	4	48	1	0	0	0	0	1	0	0	0	6311	971	34	5	799	5	GCNT4	5	74325297	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1143588	74325297	106589963	1469	5937										
HMGCR	3156	broad.mit.edu	37	chr5	74655286	74655286	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggaagcaagtggtcccacaAatgaagatttatatatcagc	9	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:74655286A>C	ENST00000287936.4	+	18	2518	c.2362A>C	c.(2362-2364)Aat>Cat	p.N788H	HMGCR_ENST00000343975.5_Missense_Mutation_p.N735H|HMGCR_ENST00000511206.1_Missense_Mutation_p.N788H	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	788	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TGGTCCCACAAATGAAGATTT	0.408																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(2362-2364)Aat>Cat		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						82	84	83					5																	74655286		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74655286A>C		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"	142910	"3-hydroxy-3-methylglutaryl-Coenzyme A reductase"				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.2362A>C	5.37:g.74655286A>C	ENSP00000287936:p.Asn788His		Somatic				HMGCR_ENST00000511206.1_Missense_Mutation_p.N788H|HMGCR_ENST00000343975.5_Missense_Mutation_p.N735H	p.N788H	NM_000859.2	NP_000850.1	WXS	Illumina GAIIx	Phase_I	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	18	2518	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	788			Catalytic.		B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.2362A>C	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.037083	0.54896	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975;ENST00000429286	T;T;T	0.46819	0.86;0.86;0.86	4.69	4.69	0.59074	Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain (1);Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding (1);	0.154247	0.64402	D	0.000017	T	0.34250	0.0891	L	0.32530	0.975	0.48040	D	0.999572	B;P;B	0.39094	0.001;0.659;0.006	B;B;B	0.29353	0.027;0.101;0.018	T	0.37220	-0.9715	10	0.66056	D	0.02	-14.9769	14.3204	0.66482	1.0:0.0:0.0:0.0	.	788;735;788	B2R649;P04035-2;P04035	.;.;HMDH_HUMAN	H	788;719;788;735;165	ENSP00000426745:N788H;ENSP00000287936:N788H;ENSP00000340816:N735H	ENSP00000287936:N788H	N	+	1	0	HMGCR	74691042	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	6.123000	0.71614	1.956000	0.56807	0.533000	0.62120	AAT		0.408	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			10	30	0	0	0	1	0	10	30					C	74655286	A	C	74655286	3	2	48	1	0	0	0	0	1	0	0	0	7240	14	1	4	2428	4	HMGCR	5	74655286	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	329989	74655286	106259974	1470	5938										
COL4A3BP	10087	broad.mit.edu	37	chr5	74698848	74698848	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcagcttcaacagcatcaaaGaactcttcttcattaatcag	5	11	6	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:74698848G>T	ENST00000405807.4	-	9	1387	c.966C>A	c.(964-966)ttC>ttA	p.F322L	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.F322L|COL4A3BP_ENST00000380494.5_Missense_Mutation_p.F450L	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	322					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)		CAGCATCAAAGAACTCTTCTT	0.318																																						ENST00000380494.5																			0				breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16						c.(1348-1350)ttC>ttA		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							105	111	109					5																	74698848		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.chr5:74698848G>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.966C>A	5.37:g.74698848G>T	ENSP00000383996:p.Phe322Leu		Somatic				COL4A3BP_ENST00000405807.4_Missense_Mutation_p.F322L|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.F322L	p.F450L	NM_001130105.1	NP_001123577.1	WXS	Illumina GAIIx	Phase_I	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	10	1643	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	322			START.		A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	c.1350C>A	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438124	0.83885	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.62941	0.15;-0.01;0.24	5.87	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.69424	0.3109	L	0.36672	1.1	0.58432	D	0.999998	D;D;D	0.76494	0.998;0.999;0.992	D;D;P	0.83275	0.99;0.996;0.892	T	0.69957	-0.5004	10	0.59425	D	0.04	-5.529	12.1116	0.53842	0.1398:0.0:0.8602:0.0	.	322;450;322	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	L	322;450;322	ENSP00000383996:F322L;ENSP00000369862:F450L;ENSP00000261415:F322L	ENSP00000261415:F322L	F	-	3	2	COL4A3BP	74734604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.021000	0.41020	0.829000	0.34733	0.591000	0.81541	TTC		0.318	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		13	28	1	0	0.00010058	1	0.000108553	13	28					T	74698848	G	T	74698848	3	4	48	1	0	0	0	0	1	0	0	0	3694	933	33	2	944	2	COL4A3BP	5	74698848	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	43562	74698848	106216412	1471	5939										
POLK	51426	broad.mit.edu	37	chr5	74892722	74892722	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctagtctcccaagcaagtCttttaatattgaacactgtc	5	10	3	1	rs373884490		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:74892722C>A	ENST00000241436.4	+	13	2376	c.2204C>A	c.(2203-2205)tCt>tAt	p.S735Y	CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Missense_Mutation_p.S537Y|POLK_ENST00000508526.1_Missense_Mutation_p.S537Y|POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Missense_Mutation_p.S645Y	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	735					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CCAAGCAAGTCTTTTAATATT	0.348								DNA polymerases (catalytic subunits)																														ENST00000241436.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(2203-2205)tCt>tAt	DNA polymerases (catalytic subunits)	polymerase (DNA directed) kappa							71	76	74					5																	74892722		2203	4300	6503	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892722C>A	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"DNA polymerases"	9183	protein-coding gene	gene with protein product	"polymerase (DNA-directed) kappa", "DINB protein", "DNA polymerase kappa"	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.2204C>A	5.37:g.74892722C>A	ENSP00000241436:p.Ser735Tyr		Somatic				POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Missense_Mutation_p.S645Y|POLK_ENST00000352007.5_Missense_Mutation_p.S537Y|POLK_ENST00000508526.1_Missense_Mutation_p.S537Y	p.S735Y	NM_016218.2	NP_057302.1	WXS	Illumina GAIIx	Phase_I	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	2376	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	735					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.2204C>A	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	c	8.062	0.768298	0.15983	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.58210	1.16;0.35;0.35;1.16	4.11	2.32	0.28847	.	1.370030	0.04163	N	0.323450	T	0.50718	0.1632	L	0.34521	1.04	0.09310	N	1	P;P	0.44195	0.828;0.641	P;B	0.48400	0.576;0.202	T	0.33904	-0.9850	10	0.44086	T	0.13	0.1528	5.837	0.18613	0.1545:0.6621:0.0:0.1834	.	537;735	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	Y	735;537;537;645	ENSP00000241436:S735Y;ENSP00000342256:S537Y;ENSP00000426853:S537Y;ENSP00000369848:S645Y	ENSP00000241436:S735Y	S	+	2	0	POLK	74928478	0.000000	0.05858	0.001000	0.08648	0.131000	0.20780	0.271000	0.18626	0.237000	0.21200	-0.121000	0.15023	TCT		0.348	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		15	31	1	0	1.37285e-15	1	1.81125e-15	15	31					A	74892722	C	A	74892722	3	1	48	1	0	0	0	0	1	0	0	0	12213	913	32	2	2250	2	POLK	5	74892722	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	193874	74892722	106022538	1472	5940										
IQGAP2	10788	broad.mit.edu	37	chr5	75896636	75896636	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgccatatgttttccaacaGaactacttggcccacgagga	8	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:75896636G>T	ENST00000274364.6	+	11	1368		c.e11-1		IQGAP2_ENST00000379730.3_Splice_Site	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2						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)		TTTTCCAACAGAACTACTTGG	0.433																																						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.e11-1		IQ motif containing GTPase activating protein 2							135	120	125					5																	75896636		2203	4300	6503	SO:0001630	splice_region_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75896636G>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1072-1G>T	5.37:g.75896636G>T			Somatic				IQGAP2_ENST00000379730.3_Splice_Site		NM_006633.2	NP_006624.2	WXS	Illumina GAIIx	Phase_I	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	11	1368	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)						A8K4V1|B7Z8A4|J3KR91	Splice_Site	SNP	ENST00000274364.6	37		CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280788	0.80692	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8621	0.96787	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IQGAP2	75932392	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.739000	0.91574	2.770000	0.95276	0.563000	0.77884	.		0.433	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	Intron	12	45	1	0	3.07112e-06	1	3.42433e-06	12	45					T	75896636	G	T	75896636	5	4	48	1	0	0	0	0	0	0	1	0	7824	956	33	2	1113	2	IQGAP2	5	75896636	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1003914	75896636	105018624	1473	5941										
IQGAP2	10788	broad.mit.edu	37	chr5	75964567	75964567	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acagaacaagtccactaaatTtatggatactgttattttca	5	7	1	1	rs146422169		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:75964567T>C	ENST00000274364.6	+	23	3038	c.2741T>C	c.(2740-2742)tTt>tCt	p.F914S	IQGAP2_ENST00000379730.3_Missense_Mutation_p.F416S|IQGAP2_ENST00000396234.3_Missense_Mutation_p.F410S|IQGAP2_ENST00000502745.1_Missense_Mutation_p.F410S	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	914					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)		TCCACTAAATTTATGGATACT	0.343																																						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.(2740-2742)tTt>tCt		IQ motif containing GTPase activating protein 2							66	66	66					5																	75964567		2203	4295	6498	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75964567T>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.2741T>C	5.37:g.75964567T>C	ENSP00000274364:p.Phe914Ser		Somatic				IQGAP2_ENST00000379730.3_Missense_Mutation_p.F416S|IQGAP2_ENST00000396234.3_Missense_Mutation_p.F410S|IQGAP2_ENST00000502745.1_Missense_Mutation_p.F410S	p.F914S	NM_006633.2	NP_006624.2	WXS	Illumina GAIIx	Phase_I	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	23	3038	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	914					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.2741T>C	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683926	0.88639	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000502745	T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.5	5.5	0.81552	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	D	0.90181	0.6931	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.998;0.998	D	0.91486	0.5208	10	0.66056	D	0.02	-22.5266	15.5906	0.76523	0.0:0.0:0.0:1.0	.	416;864;410;914	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	S	914;416;864;467;410;410	ENSP00000274364:F914S;ENSP00000442313:F416S;ENSP00000421097:F864S;ENSP00000422661:F467S;ENSP00000379535:F410S;ENSP00000426027:F410S	ENSP00000274364:F914S	F	+	2	0	IQGAP2	76000323	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	8.039000	0.88947	2.081000	0.62600	0.482000	0.46254	TTT		0.343	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		5	25	0	0	0	1	0	5	25					C	75964567	T	C	75964567	3	2	48	1	0	0	0	0	1	0	0	0	7824	1841	64	4	2831	4	IQGAP2	5	75964567	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	67931	75964567	104950693	1474	5942										
F2RL1	2150	broad.mit.edu	37	chr5	76115015	76115015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcttccaggaggatgcggaGccccagcgcggcgtggctgc	18	13	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:76115015G>A	ENST00000296677.4	+	1	214	c.8G>A	c.(7-9)aGc>aAc	p.S3N		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	3					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		AGGATGCGGAGCCCCAGCGCG	0.682																																						ENST00000296677.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(7-9)aGc>aAc		coagulation factor II (thrombin) receptor-like 1							5	7	7					5																	76115015		1777	3717	5494	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76115015G>A	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"GPCR / Class A : Protease activated receptors"	3538	protein-coding gene	gene with protein product	"proteinase-activated receptor-2"	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.8G>A	5.37:g.76115015G>A	ENSP00000296677:p.Ser3Asn		Somatic					p.S3N	NM_005242.4	NP_005233.3	WXS	Illumina GAIIx	Phase_I	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	1	214	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	3					Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.8G>A	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814322	0.32053	.	.	ENSG00000164251	ENST00000296677	T	0.71698	-0.59	3.28	0.299	0.15771	.	1.718730	0.02617	N	0.102753	T	0.65460	0.2693	L	0.54323	1.7	0.09310	N	1	B	0.23058	0.079	B	0.21546	0.035	T	0.43637	-0.9379	10	0.41790	T	0.15	-0.3059	5.4126	0.16356	0.1203:0.3756:0.5041:0.0	.	3	P55085	PAR2_HUMAN	N	3	ENSP00000296677:S3N	ENSP00000296677:S3N	S	+	2	0	F2RL1	76150771	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.571000	0.23669	0.044000	0.15775	-0.448000	0.05591	AGC		0.682	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			3	13	0	0	0	1	0	3	13					A	76115015	G	A	76115015	3	1	48	1	0	0	0	0	1	0	0	0	5346	971	34	3	10	3	F2RL1	5	76115015	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	150448	76115015	104800245	1475	5943										
AGGF1	55109	broad.mit.edu	37	chr5	76344055	76344055	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acctgtgttgcagataggatCactctttatcattactgctg	8	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:76344055C>A	ENST00000312916.7	+	7	1653	c.1271C>A	c.(1270-1272)tCa>tAa	p.S424*		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	424					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)		CAGATAGGATCACTCTTTATC	0.323																																						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.(1270-1272)tCa>tAa		angiogenic factor with G patch and FHA domains 1							125	120	122					5																	76344055		2203	4300	6503	SO:0001587	stop_gained	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.chr5:76344055C>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.1271C>A	5.37:g.76344055C>A	ENSP00000316109:p.Ser424*		Somatic					p.S424*	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)	7	1653	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	424					O00581|Q53YS3|Q9BU84|Q9NW66	Nonsense_Mutation	SNP	ENST00000312916.7	37	c.1271C>A	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	C	43	9.846238	0.99279	.	.	ENSG00000164252	ENST00000312916	.	.	.	5.98	5.98	0.97165	.	0.124112	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4995	20.4561	0.99145	0.0:1.0:0.0:0.0	.	.	.	.	X	424	.	ENSP00000316109:S424X	S	+	2	0	AGGF1	76379811	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.105000	0.77031	2.847000	0.97988	0.591000	0.81541	TCA		0.323	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		7	84	1	0	8.12818e-05	1	8.79784e-05	7	84					A	76344055	C	A	76344055	4	1	48	1	0	0	0	0	0	1	0	0	382	838	29	2	1297	2	AGGF1	5	76344055	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	229040	76344055	104571205	1476	5944										
PDE8B	8622	broad.mit.edu	37	chr5	76645304	76645304	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggtgagctcctgggaaaaGaactcgctgatctgcccaaa	11	10	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:76645304G>T	ENST00000264917.5	+	8	982	c.937G>T	c.(937-939)Gaa>Taa	p.E313*	PDE8B_ENST00000333194.4_Nonsense_Mutation_p.E313*|PDE8B_ENST00000342343.4_Nonsense_Mutation_p.E293*|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000346042.3_Intron	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	313	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	CCTGGGAAAAGAACTCGCTGA	0.502																																						ENST00000264917.5																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(937-939)Gaa>Taa		phosphodiesterase 8B							133	114	121					5																	76645304		2203	4300	6503	SO:0001587	stop_gained	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76645304G>T	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.937G>T	5.37:g.76645304G>T	ENSP00000264917:p.Glu313*		Somatic				PDE8B_ENST00000342343.4_Nonsense_Mutation_p.E293*|PDE8B_ENST00000333194.4_Nonsense_Mutation_p.E313*|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000346042.3_Intron	p.E313*	NM_003719.3	NP_003710.1	WXS	Illumina GAIIx	Phase_I	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	8	982	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	313			PAS.		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Nonsense_Mutation	SNP	ENST00000264917.5	37	c.937G>T	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	37	6.407026	0.97542	.	.	ENSG00000113231	ENST00000264917;ENST00000342343;ENST00000333194;ENST00000503963	.	.	.	5.76	5.76	0.90799	.	0.166894	0.51477	D	0.000094	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	18.7409	0.91773	0.0:0.0:1.0:0.0	.	.	.	.	X	313;293;313;75	.	ENSP00000264917:E313X	E	+	1	0	PDE8B	76681060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.501000	0.97979	2.733000	0.93635	0.655000	0.94253	GAA		0.502	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		30	64	1	0	8.58068e-18	1	1.15595e-17	30	64					T	76645304	G	T	76645304	4	4	48	1	0	0	0	0	0	1	0	0	11663	943	33	2	967	2	PDE8B	5	76645304	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	301249	76645304	104269956	1477	5945										
WDR41	55255	broad.mit.edu	37	chr5	76729109	76729109	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgatcttcaaagtatagaaAcatctgtaaagaaaattaaa	5	4	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:76729109A>G	ENST00000296679.4	-	13	1606	c.1231T>C	c.(1231-1233)Ttt>Ctt	p.F411L	WDR41_ENST00000414719.2_Missense_Mutation_p.F157L|WDR41_ENST00000507029.1_Missense_Mutation_p.F356L|WDR41_ENST00000512033.1_5'UTR	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	411						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)		AAGTATAGAAACATCTGTAAA	0.388																																						ENST00000296679.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14						c.(1231-1233)Ttt>Ctt		WD repeat domain 41							52	54	53					5																	76729109		2203	4300	6503	SO:0001583	missense	55255							g.chr5:76729109A>G	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.1231T>C	5.37:g.76729109A>G	ENSP00000296679:p.Phe411Leu		Somatic				WDR41_ENST00000414719.2_Missense_Mutation_p.F157L|WDR41_ENST00000507029.1_Missense_Mutation_p.F356L|WDR41_ENST00000512033.1_5'UTR	p.F411L	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)	13	1606	-		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)	411					B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	ENST00000296679.4	37	c.1231T>C	CCDS4038.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.664847	0.29604	.	.	ENSG00000164253	ENST00000296679;ENST00000414719;ENST00000515253;ENST00000507029	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.96	4.78	0.61160	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	N	0.17082	0.46	0.80722	D	1	P;P;P	0.47762	0.9;0.9;0.885	P;P;P	0.49799	0.622;0.622;0.484	T	0.45600	-0.9250	10	0.32370	T	0.25	-20.1683	13.4817	0.61338	0.8697:0.1303:0.0:0.0	.	356;157;411	B4DT55;B4E2L4;Q9HAD4	.;.;WDR41_HUMAN	L	411;157;346;356	ENSP00000296679:F411L;ENSP00000392931:F157L;ENSP00000426499:F346L;ENSP00000424287:F356L	ENSP00000296679:F411L	F	-	1	0	WDR41	76764865	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.762000	0.74950	1.043000	0.40175	0.477000	0.44152	TTT		0.388	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2	NM_018268		4	22	0	0	0	1	0	4	22					G	76729109	A	G	76729109	3	3	48	1	0	0	0	0	1	0	0	0	17309	43	2	4	152	4	WDR41	5	76729109	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	83805	76729109	104186151	1478	5946										
ARSB	411	broad.mit.edu	37	chr5	78076220	78076220	+	Nonstop_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttctagcctccctgaaatcCtacatccaagggccccacac	5	17	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:78076220C>A	ENST00000264914.4	-	8	2138	c.1602G>T	c.(1600-1602)taG>taT	p.*534Y		NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	0					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)		CCCTGAAATCCTACATCCAAG	0.527																																					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.(1600-1602)taG>taT		arylsulfatase B							54	52	53					5																	78076220		2200	4299	6499	SO:0001578	stop_lost	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78076220C>A	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.1602G>T	5.37:g.78076220C>A			Somatic					p.*534Y	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)	8	2138	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	0					B2RC20|Q8N322|Q9UDI9	Nonstop_Mutation	SNP	ENST00000264914.4	37	c.1602G>T	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676316	0.67928	.	.	ENSG00000113273	ENST00000264914	.	.	.	5.3	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3128	0.60390	0.0:0.9239:0.0:0.0761	.	.	.	.	Y	534	.	.	X	-	3	2	ARSB	78111976	0.937000	0.31787	0.990000	0.47175	0.923000	0.55619	1.940000	0.40223	1.233000	0.43693	0.555000	0.69702	TAG		0.527	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		8	78	1	0	1.06961e-07	1	1.24214e-07	8	78					A	78076220	C	A	78076220	4	1	48	1	0	0	0	0	0	0	0	0	988	692	24	5	3	5	ARSB	5	78076220	Nonstop_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1347111	78076220	102839040	1479	5947										
DMGDH	29958	broad.mit.edu	37	chr5	78350097	78350097	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgccagccagtccgagtcatTtgatatttaaattcatctac	6	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:78350097T>C	ENST00000255189.3	-	4	478	c.450A>G	c.(448-450)caA>caG	p.Q150Q	DMGDH_ENST00000520388.1_5'Flank|DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	150					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCCGAGTCATTTGATATTTAA	0.408																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(448-450)caA>caG		dimethylglycine dehydrogenase							94	88	90					5																	78350097		2203	4300	6503	SO:0001819	synonymous_variant	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78350097T>C	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.450A>G	5.37:g.78350097T>C			Somatic				DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron	p.Q150Q	NM_013391.2	NP_037523.2	WXS	Illumina GAIIx	Phase_I	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	4	478	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	150					B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	c.450A>G	CCDS4044.1																																																																																				0.408	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		15	41	0	0	0	1	0	15	41					C	78350097	T	C	78350097	2	2	48	1	0	0	0	0	0	0	0	1	4583	1838	64	4		4	DMGDH	5	78350097	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	273877	78350097	102565163	1480	5948										
BHMT	635	broad.mit.edu	37	chr5	78417160	78417160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgcatggcgtgccccccggCgagtgtgcagtgcgcctggt	16	13	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:78417160C>T	ENST00000274353.5	+	5	704	c.597C>T	c.(595-597)ggC>ggT	p.G199G	DMGDH_ENST00000520388.1_5'UTR|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	199	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.		G -> S (in dbSNP:rs59866108).		amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	TGCCCCCCGGCGAGTGTGCAG	0.488																																						ENST00000274353.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29						c.(595-597)ggC>ggT		betaine--homocysteine S-methyltransferase	L-Methionine(DB00134)						94	84	87					5																	78417160		2203	4300	6503	SO:0001819	synonymous_variant	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78417160C>T	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"betaine homocysteine methyltransferase"	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.597C>T	5.37:g.78417160C>T			Somatic				DMGDH_ENST00000520388.1_5'UTR|BHMT_ENST00000524080.1_Intron	p.G199G	NM_001713.2	NP_001704.2	WXS	Illumina GAIIx	Phase_I	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	5	704	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	199		G -> S (in dbSNP:rs59866108).	Hcy-binding.		Q9UNI9	Silent	SNP	ENST00000274353.5	37	c.597C>T	CCDS4046.1																																																																																				0.488	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		14	76	0	0	0	1	0	14	76					T	78417160	C	T	78417160	2	4	48	1	0	0	0	0	0	0	0	1	1425	755	27	1		1	BHMT	5	78417160	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	67063	78417160	102498100	1481	5949										
HOMER1	9456	broad.mit.edu	37	chr5	78734966	78734966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agactgaagatccccgcctgCggattcctttaaaaaaaggg	10	10	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:78734966C>T	ENST00000334082.6	-	5	1836	c.394G>A	c.(394-396)Gca>Aca	p.A132T	HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.A132T|HOMER1_ENST00000535690.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	132					behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TCCCCGCCTGCGGATTCCTTT	0.418																																						ENST00000334082.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14						c.(394-396)Gca>Aca		homer homolog 1 (Drosophila)							84	81	82					5																	78734966		1822	4083	5905	SO:0001583	missense	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78734966C>T	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.394G>A	5.37:g.78734966C>T	ENSP00000334382:p.Ala132Thr		Somatic				HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.A132T|HOMER1_ENST00000282260.6_Intron	p.A132T	NM_004272.3	NP_004263.1	WXS	Illumina GAIIx	Phase_I	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	5	1836	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	132					B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	c.394G>A	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.770089	0.49680	.	.	ENSG00000152413	ENST00000334082;ENST00000508576	T;T	0.44083	2.21;0.93	5.46	5.46	0.80206	.	0.114681	0.64402	D	0.000019	T	0.36276	0.0961	L	0.31926	0.97	0.80722	D	1	B;B	0.15141	0.012;0.005	B;B	0.12837	0.008;0.007	T	0.07712	-1.0758	10	0.27082	T	0.32	-16.0153	19.3022	0.94148	0.0:1.0:0.0:0.0	.	132;132	Q86YM7-3;Q86YM7	.;HOME1_HUMAN	T	132	ENSP00000334382:A132T;ENSP00000426651:A132T	ENSP00000334382:A132T	A	-	1	0	HOMER1	78770722	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.377000	0.66184	2.552000	0.86080	0.585000	0.79938	GCA		0.418	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272		7	50	0	0	0	1	0	7	50					T	78734966	C	T	78734966	3	4	48	1	0	0	0	0	1	0	0	0	7287	768	27	1	690	1	HOMER1	5	78734966	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	317806	78734966	102180294	1482	5950										
CMYA5	202333	broad.mit.edu	37	chr5	79028508	79028508	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatggagatgaaacatgattCcaaaataacaactacaccta	5	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:79028508C>A	ENST00000446378.2	+	2	3951	c.3920C>A	c.(3919-3921)tCc>tAc	p.S1307Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1307					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)		AAACATGATTCCAAAATAACA	0.393																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(3919-3921)tCc>tAc		cardiomyopathy associated 5							56	56	56					5																	79028508		1899	4109	6008	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79028508C>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.3920C>A	5.37:g.79028508C>A	ENSP00000394770:p.Ser1307Tyr		Somatic					p.S1307Y	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	3951	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1307					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.3920C>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	9.149	1.015909	0.19355	.	.	ENSG00000164309	ENST00000446378	T	0.08193	3.12	5.61	4.66	0.58398	.	1.476830	0.04072	N	0.308124	T	0.31040	0.0784	M	0.62723	1.935	0.09310	N	1	D	0.71674	0.998	D	0.71656	0.974	T	0.36817	-0.9732	10	0.87932	D	0	.	14.4578	0.67428	0.157:0.843:0.0:0.0	.	1307	Q8N3K9	CMYA5_HUMAN	Y	1307	ENSP00000394770:S1307Y	ENSP00000394770:S1307Y	S	+	2	0	CMYA5	79064264	0.000000	0.05858	0.179000	0.23059	0.045000	0.14185	0.428000	0.21395	2.645000	0.89757	0.655000	0.94253	TCC		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		9	18	1	0	0.000673444	1	0.000709932	9	18					A	79028508	C	A	79028508	3	1	48	1	0	0	0	0	1	0	0	0	3592	855	30	2	3926	2	CMYA5	5	79028508	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	293542	79028508	101886752	1483	5951										
CMYA5	202333	broad.mit.edu	37	chr5	79028699	79028699	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acttaaccagagcagtaaaaGaagaaatcccaacagattca	6	9	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:79028699G>T	ENST00000446378.2	+	2	4142	c.4111G>T	c.(4111-4113)Gaa>Taa	p.E1371*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1371					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)		AGCAGTAAAAGAAGAAATCCC	0.383																																						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.(4111-4113)Gaa>Taa		cardiomyopathy associated 5							37	37	37					5																	79028699		1848	4094	5942	SO:0001587	stop_gained	202333					perinuclear region of cytoplasm		g.chr5:79028699G>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.4111G>T	5.37:g.79028699G>T	ENSP00000394770:p.Glu1371*		Somatic					p.E1371*	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	4142	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1371					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	c.4111G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	38	6.734478	0.97801	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.62	2.89	0.33648	.	0.402757	0.21465	N	0.074100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	8.5767	0.33603	0.2424:0.0:0.7576:0.0	.	.	.	.	X	1371	.	ENSP00000394770:E1371X	E	+	1	0	CMYA5	79064455	0.236000	0.23804	0.025000	0.17156	0.003000	0.03518	0.679000	0.25291	0.874000	0.35823	-0.137000	0.14449	GAA		0.383	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		15	16	1	0	3.27435e-08	1	3.83577e-08	15	16					T	79028699	G	T	79028699	4	4	48	1	0	0	0	0	0	1	0	0	3592	943	33	2	4117	2	CMYA5	5	79028699	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	191	79028699	101886561	1484	5952										
CMYA5	202333	broad.mit.edu	37	chr5	79084796	79084796	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttcctcttgtatttagatCtttctctggaatcaaaggac	6	8	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:79084796C>A	ENST00000446378.2	+	10	11589	c.11558C>A	c.(11557-11559)tCt>tAt	p.S3853Y	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3853	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.S3853Y(1)		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)		GTATTTAGATCTTTCTCTGGA	0.338																																						ENST00000446378.2																			1	Substitution - Missense(1)	p.S3853Y(1)	large_intestine(1)	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.(11557-11559)tCt>tAt		cardiomyopathy associated 5							102	97	98					5																	79084796		1823	4089	5912	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79084796C>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.11558C>A	5.37:g.79084796C>A	ENSP00000394770:p.Ser3853Tyr		Somatic				CTC-431G16.2_ENST00000421252.2_RNA	p.S3853Y	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)	10	11589	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3853			Fibronectin type-III 2.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.11558C>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422592	0.83559	.	.	ENSG00000164309	ENST00000446378	T	0.54071	0.59	5.6	5.6	0.85130	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73513	0.3596	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75605	-0.3260	9	0.87932	D	0	.	19.2128	0.93765	0.0:1.0:0.0:0.0	.	3853	Q8N3K9	CMYA5_HUMAN	Y	3853	ENSP00000394770:S3853Y	ENSP00000394770:S3853Y	S	+	2	0	CMYA5	79120552	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.985000	0.76193	2.632000	0.89209	0.650000	0.86243	TCT		0.338	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		24	39	1	0	3.5997e-14	1	4.67138e-14	24	39					A	79084796	C	A	79084796	3	1	48	1	0	0	0	0	1	0	0	0	3592	913	32	2	11596	2	CMYA5	5	79084796	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	56097	79084796	101830464	1485	5953										
ZFYVE16	9765	broad.mit.edu	37	chr5	79734320	79734320	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgataaacaaaatacaataGaaaatggcctttctttagga	6	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:79734320G>T	ENST00000338008.5	+	3	1996	c.1816G>T	c.(1816-1818)Gaa>Taa	p.E606*	ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.E606*|ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.E606*	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	606					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)		AAATACAATAGAAAATGGCCT	0.313																																					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.(1816-1818)Gaa>Taa		zinc finger, FYVE domain containing 16							68	79	76					5																	79734320		2203	4297	6500	SO:0001587	stop_gained	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.chr5:79734320G>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.1816G>T	5.37:g.79734320G>T	ENSP00000337159:p.Glu606*		Somatic				ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.E606*|ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.E606*	p.E606*	NM_014733.3	NP_055548.3	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	1996	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	606					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Nonsense_Mutation	SNP	ENST00000338008.5	37	c.1816G>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255503	0.80135	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	.	.	.	5.34	4.44	0.53790	.	0.422934	0.22424	N	0.060249	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-4.5213	14.0333	0.64629	0.0:0.1514:0.8486:0.0	.	.	.	.	X	606	.	ENSP00000337159:E606X	E	+	1	0	ZFYVE16	79770076	0.934000	0.31675	0.740000	0.30986	0.103000	0.19146	2.331000	0.43894	1.334000	0.45468	0.650000	0.86243	GAA		0.313	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		37	68	1	0	4.65686e-17	1	6.22576e-17	37	68					T	79734320	G	T	79734320	4	4	48	1	0	0	0	0	0	1	0	0	17679	943	33	2	1822	2	ZFYVE16	5	79734320	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	649524	79734320	101180940	1486	5954										
ZCCHC9	84240	broad.mit.edu	37	chr5	80600780	80600780	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaaagaaaaaagagtacttAaatgaagatgtgaatggatt	9	1	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:80600780A>C	ENST00000254037.2	+	1	3359	c.204A>C	c.(202-204)ttA>ttC	p.L68F	ZCCHC9_ENST00000407610.3_Missense_Mutation_p.L68F|ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.L68F|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.L68F			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	68					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		AAGAGTACTTAAATGAAGATG	0.373																																						ENST00000254037.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13						c.(202-204)ttA>ttC		zinc finger, CCHC domain containing 9							73	74	73					5																	80600780		2203	4300	6503	SO:0001583	missense	84240						nucleic acid binding|zinc ion binding	g.chr5:80600780A>C	BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"Zinc fingers, CCHC domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25424	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 41"					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.204A>C	5.37:g.80600780A>C	ENSP00000254037:p.Leu68Phe		Somatic				ZCCHC9_ENST00000380199.5_Missense_Mutation_p.L68F|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.L68F|ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.L68F	p.L68F			WXS	Illumina GAIIx	Phase_I	Q8N567	ZCHC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)	1	3359	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)	68					B2RAE7|Q9H027	Missense_Mutation	SNP	ENST00000254037.2	37	c.204A>C	CCDS4054.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.183337	0.38511	.	.	ENSG00000131732	ENST00000254037;ENST00000407610;ENST00000380199;ENST00000438268	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.18	-1.61	0.08399	.	0.346611	0.25514	N	0.030160	T	0.25680	0.0625	L	0.50333	1.59	0.20764	N	0.999857	P	0.45283	0.855	B	0.39068	0.289	T	0.38090	-0.9677	10	0.10902	T	0.67	-4.2563	5.9473	0.19225	0.329:0.2725:0.3985:0.0	.	68	Q8N567	ZCHC9_HUMAN	F	68	ENSP00000254037:L68F;ENSP00000385047:L68F;ENSP00000369546:L68F;ENSP00000412637:L68F	ENSP00000254037:L68F	L	+	3	2	ZCCHC9	80636536	0.316000	0.24580	0.996000	0.52242	0.980000	0.70556	0.596000	0.24044	0.049000	0.15920	-0.313000	0.08912	TTA		0.373	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280		24	40	0	0	0	1	0	24	40					C	80600780	A	C	80600780	3	2	48	1	0	0	0	0	1	0	0	0	17610	359	13	4	206	4	ZCCHC9	5	80600780	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	866460	80600780	100314480	1487	5955										
VCAN	1462	broad.mit.edu	37	chr5	82816211	82816211	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cactaataccagagatgagaAcagatacttatacagatgaa	7	7	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:82816211A>G	ENST00000265077.3	+	7	2651	c.2086A>G	c.(2086-2088)Aca>Gca	p.T696A	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.T696A|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.T648A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	696	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)	AGAGATGAGAACAGATACTTA	0.338																																						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.(2086-2088)Aca>Gca		versican							53	55	54					5																	82816211		2189	4291	6480	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.chr5:82816211A>G	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.2086A>G	5.37:g.82816211A>G	ENSP00000265077:p.Thr696Ala		Somatic				VCAN_ENST00000512590.2_Missense_Mutation_p.T648A|VCAN_ENST00000342785.4_Missense_Mutation_p.T696A|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron	p.T696A	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	2651	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	696			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2086A>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.277323	0.23307	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.19806	2.12;2.12;2.12	5.96	4.77	0.60923	.	0.109676	0.40728	N	0.001033	T	0.28566	0.0707	M	0.62723	1.935	0.09310	N	1	D;D	0.58268	0.971;0.982	P;P	0.48815	0.467;0.591	T	0.11991	-1.0565	10	0.33940	T	0.23	.	11.2742	0.49157	0.8474:0.1526:0.0:0.0	.	696;696	P13611-3;P13611	.;CSPG2_HUMAN	A	696;696;648	ENSP00000265077:T696A;ENSP00000342768:T696A;ENSP00000425959:T648A	ENSP00000265077:T696A	T	+	1	0	VCAN	82851967	0.897000	0.30589	0.214000	0.23707	0.421000	0.31385	2.514000	0.45503	1.037000	0.40024	0.533000	0.62120	ACA		0.338	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		13	25	0	0	0	1	0	13	25					G	82816211	A	G	82816211	3	3	48	1	0	0	0	0	1	0	0	0	17153	43	2	4	2108	4	VCAN	5	82816211	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2215431	82816211	98099049	1488	5956										
VCAN	1462	broad.mit.edu	37	chr5	82833745	82833745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgattccaattacagaaggCtctggagaagcagaagaaga	11	7	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:82833745C>T	ENST00000265077.3	+	8	5488	c.4923C>T	c.(4921-4923)ggC>ggT	p.G1641G	VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Silent_p.G654G|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1641	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)	TTACAGAAGGCTCTGGAGAAG	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.(4921-4923)ggC>ggT		versican							53	53	53					5																	82833745		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.chr5:82833745C>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.4923C>T	5.37:g.82833745C>T			Somatic				VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Silent_p.G654G	p.G1641G	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	5488	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1641			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.4923C>T	CCDS4060.1																																																																																				0.418	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		16	38	0	0	0	1	0	16	38					T	82833745	C	T	82833745	2	4	48	1	0	0	0	0	0	0	0	1	17153	784	28	3		3	VCAN	5	82833745	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	17534	82833745	98081515	1489	5957										
VCAN	1462	broad.mit.edu	37	chr5	82837802	82837802	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggcaggtgtggtgccttggCtaagtccacagacttctgag	14	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:82837802C>A	ENST00000265077.3	+	8	9545	c.8980C>A	c.(8980-8982)Cta>Ata	p.L2994I	VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.L2007I|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2994	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)	GGTGCCTTGGCTAAGTCCACA	0.498																																						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.(8980-8982)Cta>Ata		versican							54	55	54					5																	82837802		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.chr5:82837802C>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.8980C>A	5.37:g.82837802C>A	ENSP00000265077:p.Leu2994Ile		Somatic				VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.L2007I	p.L2994I	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	9545	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2994			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.8980C>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	3.190	-0.166045	0.06461	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.19250	2.16;2.16	5.64	3.54	0.40534	.	0.340762	0.25578	N	0.029705	T	0.08935	0.0221	N	0.08118	0	0.19575	N	0.999961	B;B	0.13145	0.007;0.004	B;B	0.06405	0.002;0.001	T	0.32903	-0.9889	10	0.14252	T	0.57	.	8.0825	0.30752	0.0:0.5953:0.2687:0.136	.	2007;2994	P13611-2;P13611	.;CSPG2_HUMAN	I	2994;2007	ENSP00000265077:L2994I;ENSP00000340062:L2007I	ENSP00000265077:L2994I	L	+	1	2	VCAN	82873558	0.097000	0.21791	0.944000	0.38274	0.003000	0.03518	0.838000	0.27572	1.378000	0.46305	0.655000	0.94253	CTA		0.498	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		41	61	1	0	2.40579e-17	1	3.22781e-17	41	61					A	82837802	C	A	82837802	3	1	48	1	0	0	0	0	1	0	0	0	17153	796	28	5	9006	5	VCAN	5	82837802	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4057	82837802	98077458	1490	5958										
MEF2C	4208	broad.mit.edu	37	chr5	88018554	88018554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcggtcgctcccgtcgtacGaactgctacagctgctcaag	10	15	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:88018554G>A	ENST00000437473.2	-	11	1706	c.1289C>T	c.(1288-1290)tCg>tTg	p.S430L	MEF2C_ENST00000508569.1_Missense_Mutation_p.S390L|MEF2C_ENST00000514028.1_Missense_Mutation_p.S430L|MEF2C_ENST00000424173.2_Missense_Mutation_p.S420L|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000506554.1_3'UTR|MEF2C_ENST00000514015.1_Missense_Mutation_p.S398L|MEF2C_ENST00000510942.1_Missense_Mutation_p.S422L|MEF2C_ENST00000340208.5_Missense_Mutation_p.S440L|MEF2C_ENST00000504921.2_Missense_Mutation_p.S430L|MEF2C_ENST00000539796.1_Missense_Mutation_p.S374L	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	430					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CCCGTCGTACGAACTGCTACA	0.592										HNSCC(66;0.2)																												ENST00000504921.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(1288-1290)tCg>tTg		myocyte enhancer factor 2C							127	134	132					5																	88018554		2031	4198	6229	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.chr5:88018554G>A	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.1289C>T	5.37:g.88018554G>A	ENSP00000396219:p.Ser430Leu	HNSCC(66;0.2)	Somatic				MEF2C_ENST00000340208.5_Missense_Mutation_p.S440L|MEF2C_ENST00000514028.1_Missense_Mutation_p.S430L|MEF2C_ENST00000508569.1_Missense_Mutation_p.S390L|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000510942.1_Missense_Mutation_p.S422L|MEF2C_ENST00000539796.1_Missense_Mutation_p.S374L|MEF2C_ENST00000424173.2_Missense_Mutation_p.S420L|MEF2C_ENST00000514015.1_Missense_Mutation_p.S398L|MEF2C_ENST00000437473.2_Missense_Mutation_p.S430L|MEF2C_ENST00000506554.1_3'UTR	p.S430L			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)	10	1961	-		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)	430					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.1289C>T	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202896	0.79127	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000508569;ENST00000514015;ENST00000539796	T;T;T;T;T;T;T;T;T	0.70986	-0.11;-0.09;-0.08;-0.07;-0.07;-0.07;-0.47;-0.53;0.3	5.69	5.69	0.88448	.	0.052149	0.85682	D	0.000000	D	0.84019	0.5380	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.76494	0.979;0.989;0.999;0.988	P;P;D;P	0.71656	0.772;0.746;0.974;0.629	D	0.84692	0.0723	10	0.87932	D	0	-3.3484	19.7913	0.96458	0.0:0.0:1.0:0.0	.	420;440;430;422	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	L	440;420;430;430;430;422;390;398;374	ENSP00000340874:S440L;ENSP00000389610:S420L;ENSP00000421925:S430L;ENSP00000426665:S430L;ENSP00000396219:S430L;ENSP00000422390:S422L;ENSP00000423597:S390L;ENSP00000424606:S398L;ENSP00000441153:S374L	ENSP00000340874:S440L	S	-	2	0	MEF2C	88054310	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.420000	0.97426	2.840000	0.97914	0.655000	0.94253	TCG		0.592	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		18	114	0	0	0	1	0	18	114					A	88018554	G	A	88018554	3	1	48	1	0	0	0	0	1	0	0	0	9466	1059	37	1	136	1	MEF2C	5	88018554	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5180752	88018554	92896706	1491	5959										
LYSMD3	116068	broad.mit.edu	37	chr5	89814938	89814938	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtctgctccataataggggtCtttacgttgagtgtttttgt	11	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:89814938C>A	ENST00000315948.6	-	3	763	c.619G>T	c.(619-621)Gac>Tac	p.D207Y	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	207						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TAATAGGGGTCTTTACGTTGA	0.393																																						ENST00000315948.6																			0				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(619-621)Gac>Tac		LysM, putative peptidoglycan-binding, domain containing 3							209	194	199					5																	89814938		1897	4118	6015	SO:0001583	missense	116068				cell wall macromolecule catabolic process	integral to membrane		g.chr5:89814938C>A	BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.619G>T	5.37:g.89814938C>A	ENSP00000314518:p.Asp207Tyr		Somatic				LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000509384.1_3'UTR	p.D207Y	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	763	-		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)	207					Q5H9U0|Q6PEK0|Q9NTE9	Missense_Mutation	SNP	ENST00000315948.6	37	c.619G>T	CCDS43338.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996780	0.74818	.	.	ENSG00000176018;ENSG00000259141	ENST00000315948;ENST00000554351	T	0.17054	2.3	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.18398	-1.0338	10	0.51188	T	0.08	-24.9118	19.8807	0.96899	0.0:1.0:0.0:0.0	.	207	Q7Z3D4	LYSM3_HUMAN	Y	207	ENSP00000314518:D207Y	ENSP00000314518:D207Y	D	-	1	0	AC027323.1;LYSMD3	89850694	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	7.463000	0.80869	2.692000	0.91855	0.591000	0.81541	GAC		0.393	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	XM_371760		10	97	1	0	6.40141e-05	1	6.95424e-05	10	97					A	89814938	C	A	89814938	3	1	48	1	0	0	0	0	1	0	0	0	9135	913	32	2	305	2	LYSMD3	5	89814938	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1796384	89814938	91100322	1492	5960										
GPR98	84059	broad.mit.edu	37	chr5	89938771	89938771	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaagagatagcaatgaattCtatggaaacacgggagtact	10	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:89938771C>A	ENST00000405460.2	+	13	2562	c.2466C>A	c.(2464-2466)ttC>ttA	p.F822L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	822	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)		GCAATGAATTCTATGGAAACA	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.(2464-2466)ttC>ttA		G protein-coupled receptor 98							136	129	131					5																	89938771		1834	4086	5920	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.chr5:89938771C>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.2466C>A	5.37:g.89938771C>A	ENSP00000384582:p.Phe822Leu		Somatic					p.F822L	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	2562	+		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)	822			Calx-beta 6.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.2466C>A	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.166553|4.166553	0.78339|0.78339	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.35236|.	1.32|.	5.16|5.16	4.3|4.3	0.51218|0.51218	Na-Ca exchanger/integrin-beta4 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51787|0.51787	0.1695|0.1695	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.44967|0.44967	-0.9293|-0.9293	10|5	0.62326|.	D|.	0.03|.	.|.	8.8774|8.8774	0.35354|0.35354	0.0:0.7814:0.0:0.2186|0.0:0.7814:0.0:0.2186	.|.	822|.	Q8WXG9|.	GPR98_HUMAN|.	L|I	822|411	ENSP00000384582:F822L|.	ENSP00000296619:F822L|.	F|L	+|+	3|1	2|2	GPR98|GPR98	89974527|89974527	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.665000|1.665000	0.37449|0.37449	1.173000|1.173000	0.42796|0.42796	0.591000|0.591000	0.81541|0.81541	TTC|CTA		0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		49	85	1	0	4.18559e-23	1	5.84444e-23	49	85					A	89938771	C	A	89938771	3	1	48	1	0	0	0	0	1	0	0	0	6730	912	32	2	2516	2	GPR98	5	89938771	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	123833	89938771	90976489	1493	5961										
GPR98	84059	broad.mit.edu	37	chr5	89948330	89948330	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctccatgcttttccagataAaattcctgaattcaatgaat	4	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:89948330A>C	ENST00000405460.2	+	19	3680	c.3584A>C	c.(3583-3585)aAa>aCa	p.K1195T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1195	Calx-beta 9. {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)		TTTCCAGATAAAATTCCTGAA	0.338																																						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.(3583-3585)aAa>aCa		G protein-coupled receptor 98							68	62	64					5																	89948330		1848	4097	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.chr5:89948330A>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.3584A>C	5.37:g.89948330A>C	ENSP00000384582:p.Lys1195Thr		Somatic					p.K1195T	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)	19	3680	+		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)	1195			Calx-beta 9.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.3584A>C	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.63|12.63	1.994663|1.994663	0.35226|0.35226	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.25579|.	1.79|.	6.07|6.07	1.06|1.06	0.20224|0.20224	.|.	0.578345|.	0.20693|.	N|.	0.087422|.	T|.	0.35335|.	0.0928|.	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B|.	0.23540|.	0.087|.	B|.	0.23419|.	0.046|.	T|.	0.08289|.	-1.0729|.	10|.	0.52906|.	T|.	0.07|.	.|.	2.0281|2.0281	0.03523|0.03523	0.4996:0.1211:0.2625:0.1168|0.4996:0.1211:0.2625:0.1168	.|.	1195|.	Q8WXG9|.	GPR98_HUMAN|.	T|Y	1195|783	ENSP00000384582:K1195T|.	ENSP00000296619:K1195T|.	K|X	+|+	2|3	0|2	GPR98|GPR98	89984086|89984086	1.000000|1.000000	0.71417|0.71417	0.324000|0.324000	0.25361|0.25361	0.740000|0.740000	0.42216|0.42216	1.232000|1.232000	0.32636|0.32636	-0.032000|-0.032000	0.13758|0.13758	-0.446000|-0.446000	0.05623|0.05623	AAA|TAA		0.338	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		16	19	0	0	0	1	0	16	19					C	89948330	A	C	89948330	3	2	48	1	0	0	0	0	1	0	0	0	6730	14	1	4	3658	4	GPR98	5	89948330	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	9559	89948330	90966930	1494	5962										
GPR98	84059	broad.mit.edu	37	chr5	89949626	89949626	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caatgctacatacattgccaAgacaacagtcatgaaatatt	5	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:89949626A>G	ENST00000405460.2	+	20	4331	c.4235A>G	c.(4234-4236)aAg>aGg	p.K1412R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1412					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)		TACATTGCCAAGACAACAGTC	0.378																																						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.(4234-4236)aAg>aGg		G protein-coupled receptor 98							91	82	85					5																	89949626		1859	4096	5955	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.chr5:89949626A>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.4235A>G	5.37:g.89949626A>G	ENSP00000384582:p.Lys1412Arg		Somatic					p.K1412R	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)	20	4331	+		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)	1412					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.4235A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822911	0.32237	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.02121	4.44	5.48	5.48	0.80851	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.048441	0.85682	D	0.000000	T	0.01940	0.0061	N	0.12471	0.22	0.80722	D	1	B	0.32893	0.389	B	0.37451	0.25	T	0.67284	-0.5709	10	0.30078	T	0.28	.	9.9969	0.41905	0.9244:0.0:0.0756:0.0	.	1412	Q8WXG9	GPR98_HUMAN	R	1412	ENSP00000384582:K1412R	ENSP00000296619:K1412R	K	+	2	0	GPR98	89985382	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.147000	0.50639	2.089000	0.63090	0.528000	0.53228	AAG		0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	16	0	0	0	1	0	3	16					G	89949626	A	G	89949626	3	3	48	1	0	0	0	0	1	0	0	0	6730	72	3	4	4313	4	GPR98	5	89949626	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1296	89949626	90965634	1495	5963										
GPR98	84059	broad.mit.edu	37	chr5	90077323	90077323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taggaaacatctccattgttCgcatcataataatgaaaaat	5	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:90077323C>T	ENST00000405460.2	+	65	13255	c.13159C>T	c.(13159-13161)Cgc>Tgc	p.R4387C	GPR98_ENST00000425867.2_Missense_Mutation_p.R48C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4387	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)		CTCCATTGTTCGCATCATAAT	0.363																																						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.(13159-13161)Cgc>Tgc		G protein-coupled receptor 98							64	59	61					5																	90077323		1860	4089	5949	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.chr5:90077323C>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.13159C>T	5.37:g.90077323C>T	ENSP00000384582:p.Arg4387Cys		Somatic				GPR98_ENST00000425867.2_Missense_Mutation_p.R48C	p.R4387C	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)	65	13255	+		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)	4387					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.13159C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896147	0.33442	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.36340	1.26;1.57	5.8	4.93	0.64822	Na-Ca exchanger/integrin-beta4 (1);	0.440966	0.25089	N	0.033229	T	0.53012	0.1770	M	0.70595	2.14	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.997	P;P;P	0.57846	0.828;0.745;0.736	T	0.50499	-0.8821	10	0.49607	T	0.09	.	13.2944	0.60288	0.4039:0.5961:0.0:0.0	.	48;4387;48	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	C	4387;4387;48	ENSP00000384582:R4387C;ENSP00000392618:R48C	ENSP00000296619:R4387C	R	+	1	0	GPR98	90113079	0.017000	0.18338	0.012000	0.15200	0.153000	0.21895	1.263000	0.33004	1.422000	0.47177	0.650000	0.86243	CGC		0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		8	11	0	0	0	1	0	8	11					T	90077323	C	T	90077323	3	4	48	1	0	0	0	0	1	0	0	0	6730	884	31	1	13417	1	GPR98	5	90077323	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	127697	90077323	90837937	1496	5964										
GPR98	84059	broad.mit.edu	37	chr5	90087050	90087050	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagatgtggctgttgggcttCgaatatcatcggatcataaa	12	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:90087050C>T	ENST00000405460.2	+	70	14500	c.14404C>T	c.(14404-14406)Cga>Tga	p.R4802*	GPR98_ENST00000425867.2_Nonsense_Mutation_p.R463*	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4802					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.R4802*(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)		TGTTGGGCTTCGAATATCATC	0.463																																						ENST00000405460.2																			1	Substitution - Nonsense(1)	p.R4802*(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.(14404-14406)Cga>Tga		G protein-coupled receptor 98							52	50	50					5																	90087050		1989	4166	6155	SO:0001587	stop_gained	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.chr5:90087050C>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.14404C>T	5.37:g.90087050C>T	ENSP00000384582:p.Arg4802*		Somatic				GPR98_ENST00000425867.2_Nonsense_Mutation_p.R463*	p.R4802*	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)	70	14500	+		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)	4802					O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	ENST00000405460.2	37	c.14404C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	55	24.910598	0.99962	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	.	.	.	5.9	5.02	0.67125	.	0.565396	0.19055	N	0.123938	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9875	0.80174	0.0:0.8652:0.1348:0.0	.	.	.	.	X	4802;4802;463	.	ENSP00000296619:R4802X	R	+	1	2	GPR98	90122806	0.056000	0.20664	0.011000	0.14972	0.640000	0.38277	1.045000	0.30341	1.468000	0.48064	0.655000	0.94253	CGA		0.463	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	20	0	0	0	1	0	3	20					T	90087050	C	T	90087050	4	4	48	1	0	0	0	0	0	1	0	0	6730	876	31	1	14682	1	GPR98	5	90087050	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	9727	90087050	90828210	1497	5965										
GPR98	84059	broad.mit.edu	37	chr5	90151704	90151704	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccttcttcacttctggatTtatatgtatctcaggtcagt	7	9	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:90151704T>G	ENST00000405460.2	+	82	17837	c.17741T>G	c.(17740-17742)tTt>tGt	p.F5914C	GPR98_ENST00000425867.2_Missense_Mutation_p.F1575C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5914					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)		ACTTCTGGATTTATATGTATC	0.363																																						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.(17740-17742)tTt>tGt		G protein-coupled receptor 98							166	153	157					5																	90151704		1890	4113	6003	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.chr5:90151704T>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.17741T>G	5.37:g.90151704T>G	ENSP00000384582:p.Phe5914Cys		Somatic				GPR98_ENST00000425867.2_Missense_Mutation_p.F1575C	p.F5914C	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)	82	17837	+		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)	5914					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.17741T>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.549460	0.86127	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.30182	1.56;1.54	5.49	5.49	0.81192	GPCR, family 2-like (1);	0.091829	0.85682	D	0.000000	T	0.50480	0.1618	L	0.56769	1.78	0.58432	D	0.999996	D;D;D	0.76494	0.999;0.999;0.998	P;D;P	0.66847	0.905;0.947;0.847	T	0.44544	-0.9321	9	.	.	.	.	15.8828	0.79216	0.0:0.0:0.0:1.0	.	1575;5914;1575	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	C	5914;5914;1575	ENSP00000384582:F5914C;ENSP00000392618:F1575C	.	F	+	2	0	GPR98	90187460	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.310000	0.78947	2.213000	0.71641	0.477000	0.44152	TTT		0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		16	41	0	0	0	1	0	16	41					G	90151704	T	G	90151704	3	3	48	1	0	0	0	0	1	0	0	0	6730	1841	64	4	18067	4	GPR98	5	90151704	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	64654	90151704	90763556	1498	5966										
SPATA9	83890	broad.mit.edu	37	chr5	95018287	95018287	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attcatctttaaactcatctAcaaggtccatgattgctttc	4	10	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:95018287A>G	ENST00000274432.8	-	2	236	c.95T>C	c.(94-96)gTa>gCa	p.V32A	SPATA9_ENST00000477047.2_5'UTR|RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Missense_Mutation_p.V32A	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	32					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)		AAACTCATCTACAAGGTCCAT	0.318																																						ENST00000274432.8																			0				large_intestine(3)|lung(4)	7						c.(94-96)gTa>gCa		spermatogenesis associated 9							99	102	101					5																	95018287		2203	4300	6503	SO:0001583	missense	83890				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr5:95018287A>G	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.95T>C	5.37:g.95018287A>G	ENSP00000274432:p.Val32Ala		Somatic				RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Missense_Mutation_p.V32A|SPATA9_ENST00000477047.2_5'UTR	p.V32A	NM_031952.3	NP_114158.2	WXS	Illumina GAIIx	Phase_I	Q9BWV2	SPAT9_HUMAN		all cancers(79;8.91e-16)	2	236	-		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)	32					A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	ENST00000274432.8	37	c.95T>C	CCDS4076.1	.	.	.	.	.	.	.	.	.	.	A	9.874	1.199803	0.22121	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.50813	0.73	4.7	2.2	0.27929	.	0.870643	0.09691	N	0.768437	T	0.25232	0.0613	N	0.08118	0	0.18873	N	0.999981	B	0.09022	0.002	B	0.08055	0.003	T	0.19614	-1.0300	10	0.49607	T	0.09	-1.1025	4.1662	0.10308	0.7253:0.0:0.0976:0.1772	.	32	Q9BWV2	SPAT9_HUMAN	A	32	ENSP00000274432:V32A	ENSP00000274432:V32A	V	-	2	0	SPATA9	95044043	0.855000	0.29742	0.378000	0.26068	0.996000	0.88848	1.512000	0.35812	0.275000	0.22094	0.460000	0.39030	GTA		0.318	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952		13	26	0	0	0	1	0	13	26					G	95018287	A	G	95018287	3	3	48	1	0	0	0	0	1	0	0	0	15031	391	14	4	685	4	SPATA9	5	95018287	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	4866583	95018287	85896973	1499	5967										
ELL2	22936	broad.mit.edu	37	chr5	95242363	95242363	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtccctgtatggcctctgaGagatggtgctgctgctatgt	13	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:95242363G>T	ENST00000237853.4	-	5	954	c.605C>A	c.(604-606)tCt>tAt	p.S202Y	ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	202					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TGGCCTCTGAGAGATGGTGCT	0.488																																						ENST00000237853.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24						c.(604-606)tCt>tAt		elongation factor, RNA polymerase II, 2							181	166	171					5																	95242363		2203	4300	6503	SO:0001583	missense	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95242363G>T	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.605C>A	5.37:g.95242363G>T	ENSP00000237853:p.Ser202Tyr		Somatic				ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Intron	p.S202Y	NM_012081.5	NP_036213.2	WXS	Illumina GAIIx	Phase_I	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	5	954	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	202					B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	c.605C>A	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095010	0.76870	.	.	ENSG00000118985	ENST00000237853	T	0.33216	1.42	5.83	5.83	0.93111	.	0.158705	0.64402	D	0.000017	T	0.59307	0.2184	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.57877	-0.7735	10	0.49607	T	0.09	-2.8901	19.7203	0.96139	0.0:0.0:1.0:0.0	.	202	O00472	ELL2_HUMAN	Y	202	ENSP00000237853:S202Y	ENSP00000237853:S202Y	S	-	2	0	ELL2	95268119	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	4.399000	0.59703	2.758000	0.94735	0.591000	0.81541	TCT		0.488	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		17	100	1	0	1.15088e-07	1	1.32965e-07	17	100					T	95242363	G	T	95242363	3	4	48	1	0	0	0	0	1	0	0	0	5065	942	33	2	1349	2	ELL2	5	95242363	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	224076	95242363	85672897	1500	5968										
PCSK1	5122	broad.mit.edu	37	chr5	95751803	95751803	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atttgcttgcatggcaatttCtcctgcacatctggtcccgt	8	12	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:95751803C>A	ENST00000311106.3	-	6	880	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	PCSK1_ENST00000508626.1_Nonsense_Mutation_p.E168*|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	215	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ATGGCAATTTCTCCTGCACAT	0.383																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(643-645)Gaa>Taa		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						152	143	146					5																	95751803		2203	4300	6503	SO:0001587	stop_gained	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95751803C>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"prohormone convertase 3", "prohormone convertase 1", "neuroendocrine convertase 1", "proprotein convertase 1"	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.643G>T	5.37:g.95751803C>A	ENSP00000308024:p.Glu215*		Somatic				PCSK1_ENST00000508626.1_Nonsense_Mutation_p.E168*|CTD-2337A12.1_ENST00000502645.2_RNA	p.E215*	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	WXS	Illumina GAIIx	Phase_I	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	6	880	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	215			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Nonsense_Mutation	SNP	ENST00000311106.3	37	c.643G>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	40	8.232555	0.98717	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.9157	20.2159	0.98296	0.0:1.0:0.0:0.0	.	.	.	.	X	215;168	.	ENSP00000308024:E215X	E	-	1	0	PCSK1	95777559	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.345000	0.79337	2.882000	0.98803	0.655000	0.94253	GAA		0.383	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		18	31	1	0	6.33239e-15	1	8.29613e-15	18	31					A	95751803	C	A	95751803	4	1	48	1	0	0	0	0	0	1	0	0	11609	922	32	2	1654	2	PCSK1	5	95751803	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	509440	95751803	85163457	1501	5969										
CAST	831	broad.mit.edu	37	chr5	96071887	96071887	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctcaccagaaaaaagaaaaGaaatcattaaccccagctgt	5	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:96071887G>T	ENST00000341926.3	+	8	555	c.393G>T	c.(391-393)aaG>aaT	p.K131N	CAST_ENST00000509903.1_Missense_Mutation_p.K109N|CAST_ENST00000338252.3_Missense_Mutation_p.K131N|CAST_ENST00000508830.1_Missense_Mutation_p.K214N|CAST_ENST00000325674.7_Missense_Mutation_p.K192N|CAST_ENST00000395812.2_Missense_Mutation_p.K173N|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000510756.1_Missense_Mutation_p.K192N|CAST_ENST00000504465.1_Intron|CAST_ENST00000309190.5_Missense_Mutation_p.K109N|CAST_ENST00000508608.1_Missense_Mutation_p.K177N|CAST_ENST00000511049.1_Missense_Mutation_p.K117N|CAST_ENST00000359176.4_Missense_Mutation_p.K195N|CAST_ENST00000395813.1_Missense_Mutation_p.K214N|CAST_ENST00000511782.1_Missense_Mutation_p.K117N			P20810	ICAL_HUMAN	calpastatin	131					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		AAAAAGAAAAGAAATCATTAA	0.318																																						ENST00000395813.1																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22						c.(640-642)aaG>aaT		calpastatin							57	55	56					5																	96071887		2203	4300	6503	SO:0001583	missense	831						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	g.chr5:96071887G>T	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.393G>T	5.37:g.96071887G>T	ENSP00000339914:p.Lys131Asn		Somatic				CAST_ENST00000395812.2_Missense_Mutation_p.K173N|CAST_ENST00000511049.1_Missense_Mutation_p.K117N|CAST_ENST00000509903.1_Missense_Mutation_p.K109N|CAST_ENST00000510756.1_Missense_Mutation_p.K192N|CAST_ENST00000325674.7_Missense_Mutation_p.K192N|CAST_ENST00000309190.5_Missense_Mutation_p.K109N|CAST_ENST00000359176.4_Missense_Mutation_p.K195N|CAST_ENST00000508830.1_Missense_Mutation_p.K214N|CAST_ENST00000508608.1_Missense_Mutation_p.K177N|CAST_ENST00000504465.1_Intron|CAST_ENST00000511782.1_Missense_Mutation_p.K117N|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000341926.3_Missense_Mutation_p.K131N|CAST_ENST00000338252.3_Missense_Mutation_p.K131N	p.K214N			WXS	Illumina GAIIx	Phase_I	P20810	ICAL_HUMAN		all cancers(79;6.85e-15)	10	828	+		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)	131					B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37	c.642G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.24|11.24	1.580700|1.580700	0.28180|0.28180	.|.	.|.	ENSG00000153113|ENSG00000153113	ENST00000505143;ENST00000338252;ENST00000508830;ENST00000511097;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000421689;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000509903;ENST00000511782;ENST00000508197|ENST00000512620	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.17691|.	2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26|.	5.34|5.34	-0.221|-0.221	0.13126|0.13126	.|.	1.075060|.	0.07154|.	N|.	0.849540|.	T|T	0.35799|0.35799	0.0944|0.0944	L|L	0.43152|0.43152	1.355|1.355	0.22648|0.22648	N|N	0.998898|0.998898	B;B;B;B;B;B;B;B;B;B;B;B|.	0.15141|.	0.003;0.0;0.002;0.0;0.0;0.005;0.0;0.012;0.001;0.0;0.007;0.001|.	B;B;B;B;B;B;B;B;B;B;B;B|.	0.16289|.	0.005;0.001;0.015;0.002;0.001;0.015;0.001;0.009;0.003;0.001;0.013;0.003|.	T|T	0.31888|0.31888	-0.9927|-0.9927	10|5	0.37606|.	T|.	0.19|.	0.1629|0.1629	7.4737|7.4737	0.27363|0.27363	0.17:0.0:0.6262:0.2038|0.17:0.0:0.6262:0.2038	.|.	109;177;109;109;90;131;192;173;195;192;214;131|.	B7Z5T6;B7Z468;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2|.	.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.|.	N|I	209;131;214;192;214;195;192;173;195;192;177;131;117;109;131;109;117;82|148	ENSP00000422957:K209N;ENSP00000343421:K131N;ENSP00000425721:K214N;ENSP00000422951:K192N;ENSP00000379158:K214N;ENSP00000352098:K195N;ENSP00000320319:K192N;ENSP00000379157:K173N;ENSP00000396558:K195N;ENSP00000422176:K192N;ENSP00000422677:K177N;ENSP00000339914:K131N;ENSP00000421130:K117N;ENSP00000312523:K109N;ENSP00000422325:K131N;ENSP00000426946:K109N;ENSP00000423638:K117N;ENSP00000422831:K82N|.	ENSP00000312523:K109N|.	K|R	+|+	3|2	2|0	CAST|CAST	96097643|96097643	0.949000|0.949000	0.32298|0.32298	0.771000|0.771000	0.31576|0.31576	0.951000|0.951000	0.60555|0.60555	-0.019000|-0.019000	0.12546|0.12546	-0.019000|-0.019000	0.14055|0.14055	0.650000|0.650000	0.86243|0.86243	AAG|AGA		0.318	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062		7	17	1	0	0.000157383	1	0.000169016	7	17					T	96071887	G	T	96071887	3	4	48	1	0	0	0	0	1	0	0	0	2686	933	33	2	680	2	CAST	5	96071887	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	320084	96071887	84843373	1502	5970										
CAST	831	broad.mit.edu	37	chr5	96106290	96106290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acctaagaatggaggtaaagCgaaggattcagcaaaggtaa	12	5	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:96106290C>T	ENST00000341926.3	+	28	2237	c.2075C>T	c.(2074-2076)gCg>gTg	p.A692V	CAST_ENST00000509903.1_Missense_Mutation_p.A657V|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000508830.1_Missense_Mutation_p.A775V|CAST_ENST00000325674.7_Missense_Mutation_p.A740V|CAST_ENST00000395812.2_Missense_Mutation_p.A734V|CAST_ENST00000515663.1_Missense_Mutation_p.A415V|CAST_ENST00000338252.3_Missense_Mutation_p.A679V|CAST_ENST00000508579.1_Missense_Mutation_p.A407V|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000510756.1_Missense_Mutation_p.A753V|CAST_ENST00000504465.1_Missense_Mutation_p.A620V|CAST_ENST00000309190.5_Missense_Mutation_p.A670V|CAST_ENST00000508608.1_Missense_Mutation_p.A738V|CAST_ENST00000511049.1_Missense_Mutation_p.A677V|CAST_ENST00000359176.4_Missense_Mutation_p.A756V|CAST_ENST00000395813.1_Missense_Mutation_p.A775V|CAST_ENST00000511782.1_Missense_Mutation_p.A678V			P20810	ICAL_HUMAN	calpastatin	692					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GGAGGTAAAGCGAAGGATTCA	0.393																																						ENST00000395813.1																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22						c.(2323-2325)gCg>gTg		calpastatin							105	98	100					5																	96106290		2203	4300	6503	SO:0001583	missense	831						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	g.chr5:96106290C>T	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.2075C>T	5.37:g.96106290C>T	ENSP00000339914:p.Ala692Val		Somatic				CAST_ENST00000510756.1_Missense_Mutation_p.A753V|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000395812.2_Missense_Mutation_p.A734V|CAST_ENST00000511049.1_Missense_Mutation_p.A677V|CAST_ENST00000509903.1_Missense_Mutation_p.A657V|CAST_ENST00000508579.1_Missense_Mutation_p.A407V|CAST_ENST00000515663.1_Missense_Mutation_p.A415V|CAST_ENST00000325674.7_Missense_Mutation_p.A740V|CAST_ENST00000309190.5_Missense_Mutation_p.A670V|CAST_ENST00000359176.4_Missense_Mutation_p.A756V|CAST_ENST00000508830.1_Missense_Mutation_p.A775V|CAST_ENST00000508608.1_Missense_Mutation_p.A738V|CAST_ENST00000504465.1_Missense_Mutation_p.A620V|CAST_ENST00000511782.1_Missense_Mutation_p.A678V|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000341926.3_Missense_Mutation_p.A692V|CAST_ENST00000338252.3_Missense_Mutation_p.A679V	p.A775V			WXS	Illumina GAIIx	Phase_I	P20810	ICAL_HUMAN		all cancers(79;6.85e-15)	30	2510	+		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)	692					B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37	c.2324C>T		.	.	.	.	.	.	.	.	.	.	C	16.67	3.188976	0.57909	.	.	ENSG00000153113	ENST00000338252;ENST00000508830;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508579;ENST00000515663	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.20463	2.07;2.08;2.08;2.07;2.07;2.08;2.09;2.08;2.08;2.09;2.09;2.09;2.07;2.09;2.24;2.15	4.96	4.96	0.65561	.	0.430568	0.22912	N	0.054135	T	0.44456	0.1294	M	0.66939	2.045	0.80722	D	1	D;D;P;P;P;P;D;D;P;D;D;D;D;D;D	0.89917	1.0;1.0;0.702;0.702;0.944;0.904;0.997;1.0;0.904;1.0;0.968;1.0;1.0;0.968;0.997	D;D;B;B;B;B;P;D;B;D;P;D;D;P;P	0.85130	0.99;0.972;0.086;0.086;0.23;0.23;0.804;0.996;0.23;0.996;0.503;0.997;0.987;0.503;0.804	T	0.28427	-1.0044	10	0.66056	D	0.02	-12.6313	13.8918	0.63744	0.0:1.0:0.0:0.0	.	620;738;415;414;677;657;670;651;692;740;734;756;753;775;679	E9PDE4;B7Z468;E7EQA0;E7EPY6;E7EVY3;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2	.;.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.	V	679;775;775;756;740;734;753;738;692;677;670;620;657;678;407;415	ENSP00000343421:A679V;ENSP00000425721:A775V;ENSP00000379158:A775V;ENSP00000352098:A756V;ENSP00000320319:A740V;ENSP00000379157:A734V;ENSP00000422176:A753V;ENSP00000422677:A738V;ENSP00000339914:A692V;ENSP00000421130:A677V;ENSP00000312523:A670V;ENSP00000425670:A620V;ENSP00000426946:A657V;ENSP00000423638:A678V;ENSP00000425787:A407V;ENSP00000422929:A415V	ENSP00000312523:A670V	A	+	2	0	CAST	96132046	1.000000	0.71417	0.993000	0.49108	0.318000	0.28184	3.233000	0.51311	2.740000	0.93945	0.561000	0.74099	GCG		0.393	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062		6	35	0	0	0	1	0	6	35					T	96106290	C	T	96106290	3	4	48	1	0	0	0	0	1	0	0	0	2686	768	27	1	2566	1	CAST	5	96106290	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	34403	96106290	84808970	1503	5971										
ERAP2	64167	broad.mit.edu	37	chr5	96219620	96219620	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagcaggcatattgcactaTccaacatgccaaaggtatgt	9	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:96219620T>C	ENST00000437043.3	+	3	1411	c.700T>C	c.(700-702)Tcc>Ccc	p.S234P	ERAP2_ENST00000379904.4_Missense_Mutation_p.S234P|ERAP2_ENST00000510309.1_Missense_Mutation_p.S234P|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	234					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)		TATTGCACTATCCAACATGCC	0.408																																						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.(700-702)Tcc>Ccc		endoplasmic reticulum aminopeptidase 2							84	76	79					5																	96219620		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.chr5:96219620T>C	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.700T>C	5.37:g.96219620T>C	ENSP00000400376:p.Ser234Pro		Somatic				ERAP2_ENST00000379904.4_Missense_Mutation_p.S234P|ERAP2_ENST00000510309.1_Missense_Mutation_p.S234P|CTD-2260A17.2_ENST00000501338.1_Intron	p.S234P	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)	3	1411	+		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)	234					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.700T>C	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081033	0.55753	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904;ENST00000510309	T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94	5.13	3.96	0.45880	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.154950	0.43416	D	0.000572	T	0.46464	0.1394	H	0.97852	4.09	0.43924	D	0.996579	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.59542	-0.7435	10	0.87932	D	0	.	10.0187	0.42029	0.0:0.082:0.0:0.9179	.	234;234	Q6P179-3;Q6P179	.;ERAP2_HUMAN	P	234	ENSP00000400376:S234P;ENSP00000421175:S234P;ENSP00000421849:S234P;ENSP00000369235:S234P;ENSP00000425758:S234P	ENSP00000369235:S234P	S	+	1	0	ERAP2	96245376	1.000000	0.71417	0.780000	0.31762	0.716000	0.41182	7.387000	0.79785	0.893000	0.36288	0.455000	0.32223	TCC		0.408	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		16	21	0	0	0	1	0	16	21					C	96219620	T	C	96219620	3	2	48	1	0	0	0	0	1	0	0	0	5206	1435	50	4	706	4	ERAP2	5	96219620	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	113330	96219620	84695640	1504	5972										
ERAP2	64167	broad.mit.edu	37	chr5	96235878	96235878	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttgtcattcggatcccaaGatgacaagtaacatggtaag	10	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:96235878G>T	ENST00000437043.3	+	10	2268	c.1557G>T	c.(1555-1557)aaG>aaT	p.K519N	ERAP2_ENST00000379904.4_Missense_Mutation_p.K474N|ERAP2_ENST00000515095.1_3'UTR|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	519					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)		CGGATCCCAAGATGACAAGTA	0.403																																						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.(1555-1557)aaG>aaT		endoplasmic reticulum aminopeptidase 2							223	206	212					5																	96235878		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.chr5:96235878G>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.1557G>T	5.37:g.96235878G>T	ENSP00000400376:p.Lys519Asn		Somatic				ERAP2_ENST00000379904.4_Missense_Mutation_p.K474N|ERAP2_ENST00000515095.1_3'UTR|CTD-2260A17.2_ENST00000501338.1_Intron	p.K519N	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)	10	2268	+		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)	519					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.1557G>T	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732146	0.30684	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904	T;T;T;T	0.03152	4.97;4.6;4.03;4.97	3.5	2.63	0.31362	.	2.114170	0.02063	N	0.050930	T	0.04907	0.0132	N	0.22421	0.69	0.09310	N	0.999995	B;B	0.23377	0.069;0.084	B;B	0.33960	0.173;0.084	T	0.40459	-0.9562	10	0.39692	T	0.17	.	6.6867	0.23148	0.129:0.0:0.871:0.0	.	474;519	Q6P179-3;Q6P179	.;ERAP2_HUMAN	N	519;519;519;474	ENSP00000400376:K519N;ENSP00000421175:K519N;ENSP00000421849:K519N;ENSP00000369235:K474N	ENSP00000369235:K474N	K	+	3	2	ERAP2	96261634	0.686000	0.27661	0.013000	0.15412	0.968000	0.65278	1.349000	0.33998	1.043000	0.40175	0.563000	0.77884	AAG		0.403	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		27	62	1	0	2.36697e-06	1	2.64971e-06	27	62					T	96235878	G	T	96235878	3	4	48	1	0	0	0	0	1	0	0	0	5206	933	33	2	1591	2	ERAP2	5	96235878	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	16258	96235878	84679382	1505	5973										
CHD1	1105	broad.mit.edu	37	chr5	98236676	98236676	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattaacagttgcttggcgaCgagaacttcttttatcatta	7	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:98236676C>T	ENST00000284049.3	-	6	847	c.698G>A	c.(697-699)cGt>cAt	p.R233H		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	233					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)	TGCTTGGCGACGAGAACTTCT	0.368																																						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.(697-699)cGt>cAt		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						162	157	158					5																	98236676		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.chr5:98236676C>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.698G>A	5.37:g.98236676C>T	ENSP00000284049:p.Arg233His		Somatic					p.R233H	NM_001270.2	NP_001261.2	WXS	Illumina GAIIx	Phase_I	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	6	847	-		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)	233					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.698G>A	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993036	0.93167	.	.	ENSG00000153922	ENST00000284049	D	0.90844	-2.74	5.51	5.51	0.81932	.	0.000000	0.34507	U	0.003905	D	0.94935	0.8362	M	0.78801	2.425	0.80722	D	1	D	0.76494	0.999	P	0.61592	0.891	D	0.94890	0.8047	10	0.66056	D	0.02	.	19.7788	0.96409	0.0:1.0:0.0:0.0	.	233	O14646	CHD1_HUMAN	H	233	ENSP00000284049:R233H	ENSP00000284049:R233H	R	-	2	0	CHD1	98264576	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.339000	0.79282	2.749000	0.94314	0.460000	0.39030	CGT		0.368	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		21	42	0	0	0	1	0	21	42					T	98236676	C	T	98236676	3	4	48	1	0	0	0	0	1	0	0	0	3325	536	19	1	4554	1	CHD1	5	98236676	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2000798	98236676	82678584	1506	5974										
FAM174A	345757	broad.mit.edu	37	chr5	99871609	99871609	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccatgacccagcgggccctGaccgtgttgatggtggtgag	15	12	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:99871609G>A	ENST00000312637.4	+	1	601	c.375G>A	c.(373-375)ctG>ctA	p.L125L	CTD-2001C12.1_ENST00000499025.1_lincRNA	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	125						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AGCGGGCCCTGACCGTGTTGA	0.682																																						ENST00000312637.4																			0				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(373-375)ctG>ctA		family with sequence similarity 174, member A							31	32	31					5																	99871609		2198	4294	6492	SO:0001819	synonymous_variant	345757					integral to membrane		g.chr5:99871609G>A	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.375G>A	5.37:g.99871609G>A			Somatic					p.L125L	NM_198507.1	NP_940909.1	WXS	Illumina GAIIx	Phase_I	Q8TBP5	F174A_HUMAN			1	601	+			125					A8K0H4	Silent	SNP	ENST00000312637.4	37	c.375G>A	CCDS4090.1																																																																																				0.682	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250631.2	NM_198507		17	38	0	0	0	1	0	17	38					A	99871609	G	A	99871609	2	1	48	1	0	0	0	0	0	0	0	1	5500	1277	45	3		3	FAM174A	5	99871609	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1634933	99871609	81043651	1507	5975										
ST8SIA4	7903	broad.mit.edu	37	chr5	100191882	100191882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattcttaaggattaatgcaTtaacccactccacgtgcttc	5	11	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:100191882T>C	ENST00000231461.5	-	4	1032	c.722A>G	c.(721-723)aAt>aGt	p.N241S		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	241					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)		GATTAATGCATTAACCCACTC	0.423																																						ENST00000231461.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(721-723)aAt>aGt		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4							185	163	170					5																	100191882		2203	4300	6503	SO:0001583	missense	7903				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr5:100191882T>C	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.722A>G	5.37:g.100191882T>C	ENSP00000231461:p.Asn241Ser		Somatic					p.N241S	NM_005668.4	NP_005659.1	WXS	Illumina GAIIx	Phase_I	Q92187	SIA8D_HUMAN		COAD - Colon adenocarcinoma(37;0.00402)	4	1032	-		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)	241					A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	c.722A>G	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.093756	0.56075	.	.	ENSG00000113532	ENST00000231461	T	0.28454	1.61	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	L	0.61387	1.9	0.80722	D	1	B	0.28258	0.205	B	0.19148	0.024	T	0.06972	-1.0797	10	0.19147	T	0.46	-8.1148	14.6008	0.68441	0.0:0.0:0.0:1.0	.	241	Q92187	SIA8D_HUMAN	S	241	ENSP00000231461:N241S	ENSP00000231461:N241S	N	-	2	0	ST8SIA4	100219781	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	5.087000	0.64480	2.220000	0.72140	0.482000	0.46254	AAT		0.423	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		29	43	0	0	0	1	0	29	43					C	100191882	T	C	100191882	3	2	48	1	0	0	0	0	1	0	0	0	15249	1493	52	4	365	4	ST8SIA4	5	100191882	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	320273	100191882	80723378	1508	5976										
SLCO4C1	353189	broad.mit.edu	37	chr5	101576442	101576442	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctaataatcgaaggaccataAattgtattcccaaggctagg	8	8	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:101576442A>C	ENST00000310954.6	-	11	2142	c.1856T>G	c.(1855-1857)tTt>tGt	p.F619C		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AAGGACCATAAATTGTATTCC	0.318																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1855-1857)tTt>tGt		solute carrier organic anion transporter family, member 4C1							137	145	143					5																	101576442		2203	4298	6501	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101576442A>C	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1856T>G	5.37:g.101576442A>C	ENSP00000309741:p.Phe619Cys		Somatic					p.F619C	NM_180991.4	NP_851322.3	WXS	Illumina GAIIx	Phase_I	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	11	2142	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	619						Missense_Mutation	SNP	ENST00000310954.6	37	c.1856T>G	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.396771	0.25205	.	.	ENSG00000173930	ENST00000310954	T	0.40476	1.03	5.96	4.82	0.62117	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.254323	0.34853	N	0.003638	T	0.37625	0.1010	L	0.60455	1.87	0.32797	N	0.500398	B	0.15473	0.013	B	0.23852	0.049	T	0.46119	-0.9214	10	0.40728	T	0.16	.	6.673	0.23078	0.5982:0.3243:0.0775:0.0	.	619	Q6ZQN7	SO4C1_HUMAN	C	619	ENSP00000309741:F619C	ENSP00000309741:F619C	F	-	2	0	SLCO4C1	101604341	0.904000	0.30761	0.959000	0.39883	0.598000	0.36846	1.446000	0.35090	1.106000	0.41623	0.533000	0.62120	TTT		0.318	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		35	70	0	0	0	1	0	35	70					C	101576442	A	C	101576442	3	2	48	1	0	0	0	0	1	0	0	0	14745	14	1	4	330	4	SLCO4C1	5	101576442	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1384560	101576442	79338818	1509	5977										
SLCO4C1	353189	broad.mit.edu	37	chr5	101583039	101583039	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgcaaaggaatatgggcagTttcgcacaatgagtttcaca	10	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:101583039T>C	ENST00000310954.6	-	10	2014	c.1728A>G	c.(1726-1728)aaA>aaG	p.K576K		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATATGGGCAGTTTCGCACAAT	0.363																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1726-1728)aaA>aaG		solute carrier organic anion transporter family, member 4C1							122	132	128					5																	101583039		2203	4300	6503	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101583039T>C	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1728A>G	5.37:g.101583039T>C			Somatic					p.K576K	NM_180991.4	NP_851322.3	WXS	Illumina GAIIx	Phase_I	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	10	2014	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	576						Silent	SNP	ENST00000310954.6	37	c.1728A>G	CCDS34205.1																																																																																				0.363	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		30	58	0	0	0	1	0	30	58					C	101583039	T	C	101583039	2	2	48	1	0	0	0	0	0	0	0	1	14745	1722	60	4		4	SLCO4C1	5	101583039	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	6597	101583039	79332221	1510	5978										
SLCO4C1	353189	broad.mit.edu	37	chr5	101593765	101593765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagttgatagaactaaacaCataaagacagcattcttcat	6	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:101593765C>T	ENST00000310954.6	-	7	1441	c.1155G>A	c.(1153-1155)atG>atA	p.M385I		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GAACTAAACACATAAAGACAG	0.303																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1153-1155)atG>atA		solute carrier organic anion transporter family, member 4C1							48	52	50					5																	101593765		2203	4296	6499	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101593765C>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1155G>A	5.37:g.101593765C>T	ENSP00000309741:p.Met385Ile		Somatic					p.M385I	NM_180991.4	NP_851322.3	WXS	Illumina GAIIx	Phase_I	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	7	1441	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	385						Missense_Mutation	SNP	ENST00000310954.6	37	c.1155G>A	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	1.634	-0.518227	0.04171	.	.	ENSG00000173930	ENST00000310954	T	0.79554	-1.28	5.81	2.07	0.26955	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.343833	0.31210	N	0.008053	T	0.64136	0.2571	L	0.33245	0.995	0.28217	N	0.926705	B	0.02656	0.0	B	0.12156	0.007	T	0.45454	-0.9260	10	0.10636	T	0.68	.	5.8713	0.18805	0.0:0.5962:0.1276:0.2762	.	385	Q6ZQN7	SO4C1_HUMAN	I	385	ENSP00000309741:M385I	ENSP00000309741:M385I	M	-	3	0	SLCO4C1	101621664	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	1.145000	0.31577	0.105000	0.17753	-0.232000	0.12228	ATG		0.303	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		10	28	0	0	0	1	0	10	28					T	101593765	C	T	101593765	3	4	48	1	0	0	0	0	1	0	0	0	14745	478	17	3	1047	3	SLCO4C1	5	101593765	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	10726	101593765	79321495	1511	5979										
GIN1	54826	broad.mit.edu	37	chr5	102442537	102442537	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcatggcattctcttaagacTttctttttttcctcttctga	4	10	5	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:102442537T>G	ENST00000399004.2	-	3	310	c.216A>C	c.(214-216)aaA>aaC	p.K72N	GIN1_ENST00000508629.1_Missense_Mutation_p.K72N|GIN1_ENST00000511400.1_5'Flank	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	72					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CTCTTAAGACTTTCTTTTTTT	0.348																																						ENST00000399004.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(214-216)aaA>aaC		gypsy retrotransposon integrase 1							86	80	82					5																	102442537		1835	4085	5920	SO:0001583	missense	54826				DNA integration		DNA binding	g.chr5:102442537T>G	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"gypsy integrase 1", "Ty3/Gypsy integrase 1"		"zinc finger, H2C2 domain containing"	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.216A>C	5.37:g.102442537T>G	ENSP00000381970:p.Lys72Asn		Somatic				GIN1_ENST00000508629.1_Missense_Mutation_p.K72N	p.K72N	NM_017676.2	NP_060146.2	WXS	Illumina GAIIx	Phase_I	Q9NXP7	GIN1_HUMAN		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)	3	310	-		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)	72					B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	c.216A>C	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.814379	0.32053	.	.	ENSG00000145723	ENST00000399004;ENST00000508629	T;T	0.29917	1.55;1.55	6.06	4.91	0.64330	.	0.087525	0.49305	D	0.000146	T	0.13756	0.0333	N	0.08118	0	0.33766	D	0.622494	B;B	0.21753	0.007;0.06	B;B	0.17433	0.009;0.018	T	0.10405	-1.0631	10	0.39692	T	0.17	-42.996	4.0652	0.09857	0.207:0.1503:0.0:0.6427	.	72;72	Q9NXP7-3;Q9NXP7	.;GIN1_HUMAN	N	72	ENSP00000381970:K72N;ENSP00000427162:K72N	ENSP00000381970:K72N	K	-	3	2	GIN1	102470436	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	0.516000	0.22817	1.125000	0.41998	0.528000	0.53228	AAA		0.348	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		5	15	0	0	0	1	0	5	15					G	102442537	T	G	102442537	3	3	48	1	0	0	0	0	1	0	0	0	6394	1606	56	4	1376	4	GIN1	5	102442537	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	848772	102442537	78472723	1512	5980										
PPIP5K2	23262	broad.mit.edu	37	chr5	102519017	102519017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggtgtgggtactgggcgtcGaagacgcagatcaggggaac	18	7	1	2	rs144678063		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:102519017G>A	ENST00000358359.3	+	25	3514	c.3005G>A	c.(3004-3006)cGa>cAa	p.R1002Q	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.R1002Q|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.R1002Q	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1002					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACTGGGCGTCGAAGACGCAGA	0.512																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(3004-3006)cGa>cAa		diphosphoinositol pentakisphosphate kinase 2		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	101	95	97		3005	5.8	1	5	dbSNP_134	97	0,8600		0,0,4300	no	missense	PPIP5K2	NM_015216.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1002/1223	102519017	1,13005	2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102519017G>A	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3005G>A	5.37:g.102519017G>A	ENSP00000351126:p.Arg1002Gln		Somatic				PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.R1002Q|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.R1002Q	p.R1002Q			WXS	Illumina GAIIx	Phase_I	O43314	VIP2_HUMAN			25	3578	+			1002					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.3005G>A		.	.	.	.	.	.	.	.	.	.	G	14.24	2.477120	0.44044	2.27E-4	0.0	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.15603	2.41;2.42;2.41	5.76	5.76	0.90799	.	0.000000	0.48286	D	0.000194	T	0.37376	0.1001	L	0.56769	1.78	0.51012	D	0.999903	D;P	0.69078	0.997;0.701	D;B	0.69479	0.964;0.138	T	0.02574	-1.1139	10	0.13853	T	0.58	-7.175	19.9576	0.97228	0.0:0.0:1.0:0.0	.	1002;1002	O43314-2;O43314	.;VIP2_HUMAN	Q	1002;1002;1017;1002	ENSP00000313070:R1002Q;ENSP00000351126:R1002Q;ENSP00000416016:R1002Q	ENSP00000313070:R1002Q	R	+	2	0	PPIP5K2	102546916	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.030000	0.88816	2.706000	0.92434	0.591000	0.81541	CGA		0.512	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		18	31	0	0	0	1	0	18	31					A	102519017	G	A	102519017	3	1	48	1	0	0	0	0	1	0	0	0	12345	1058	37	1	3099	1	PPIP5K2	5	102519017	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	76480	102519017	78396243	1513	5981										
PPIP5K2	23262	broad.mit.edu	37	chr5	102537329	102537329	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaaaaaacactgggaaaaaGaaatgaaatcttagcagaag	8	4	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:102537329G>T	ENST00000358359.3	+	31	4235	c.3726G>T	c.(3724-3726)aaG>aaT	p.K1242N	PPIP5K2_ENST00000321521.9_Missense_Mutation_p.K1221N|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.K1221N	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1242					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTGGGAAAAAGAAATGAAATC	0.313																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(3661-3663)aaG>aaT		diphosphoinositol pentakisphosphate kinase 2							61	65	64					5																	102537329		2203	4299	6502	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102537329G>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3726G>T	5.37:g.102537329G>T	ENSP00000351126:p.Lys1242Asn		Somatic				PPIP5K2_ENST00000358359.3_Missense_Mutation_p.K1242N|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.K1221N	p.K1221N			WXS	Illumina GAIIx	Phase_I	O43314	VIP2_HUMAN			30	4236	+			1242					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.3663G>T		.	.	.	.	.	.	.	.	.	.	G	13.87	2.365237	0.41902	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	T;T;T;T	0.28454	2.31;2.32;2.31;1.61	5.4	2.43	0.29744	.	0.000000	0.56097	D	0.000025	T	0.38799	0.1054	L	0.36672	1.1	0.28489	N	0.914554	B;D;D	0.61080	0.231;0.989;0.981	B;D;D	0.72625	0.054;0.978;0.95	T	0.15206	-1.0445	10	0.44086	T	0.13	-16.5626	7.5144	0.27592	0.299:0.0:0.701:0.0	.	1277;1221;1242	E9PGM8;O43314-2;O43314	.;.;VIP2_HUMAN	N	1221;1242;1277;1221;397	ENSP00000313070:K1221N;ENSP00000351126:K1242N;ENSP00000416016:K1221N;ENSP00000424948:K397N	ENSP00000313070:K1221N	K	+	3	2	PPIP5K2	102565228	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	0.636000	0.24644	0.262000	0.21774	0.557000	0.71058	AAG		0.313	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		13	19	1	0	0.0931896	1	0.0943983	13	19					T	102537329	G	T	102537329	3	4	48	1	0	0	0	0	1	0	0	0	12345	933	33	2	3777	2	PPIP5K2	5	102537329	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	18312	102537329	78377931	1514	5982										
EFNA5	1946	broad.mit.edu	37	chr5	106763211	106763211	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtagtcacccctctggaatCtgttagaaaaagaaaaaaaa	8	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:106763211C>A	ENST00000333274.6	-	2	407		c.e2-1		EFNA5_ENST00000509503.1_Splice_Site	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5						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)		CCTCTGGAATCTGTTAGAAAA	0.393																																						ENST00000333274.6																			0				large_intestine(6)	6						c.e2-1		ephrin-A5							76	79	78					5																	106763211		2202	4300	6502	SO:0001630	splice_region_variant	1946				cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding	g.chr5:106763211C>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.126-1G>T	5.37:g.106763211C>A			Somatic				EFNA5_ENST00000509503.1_Splice_Site		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)	2	407	-		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)							Splice_Site	SNP	ENST00000333274.6	37		CCDS4097.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032880	0.75504	.	.	ENSG00000184349	ENST00000333274;ENST00000509503	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EFNA5	106791110	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.757000	0.68766	2.878000	0.98634	0.650000	0.86243	.		0.393	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962	Intron	30	51	1	0	7.01153e-11	1	8.66693e-11	30	51					A	106763211	C	A	106763211	5	1	48	1	0	0	0	0	0	0	1	0	4956	927	32	2	577	2	EFNA5	5	106763211	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4225882	106763211	74152049	1515	5983										
FBXL17	64839	broad.mit.edu	37	chr5	107197556	107197556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agctgttccaccgtcacttcGttgacctgcaaacaaagaag	8	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:107197556G>A	ENST00000542267.1	-	9	2377	c.1971C>T	c.(1969-1971)aaC>aaT	p.N657N	FBXL17_ENST00000359660.5_Silent_p.N259N	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	657										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)		CCGTCACTTCGTTGACCTGCA	0.577																																						ENST00000542267.1																			0				endometrium(1)|large_intestine(4)|lung(1)	6						c.(1969-1971)aaC>aaT		F-box and leucine-rich repeat protein 17							101	78	86					5																	107197556		2202	4300	6502	SO:0001819	synonymous_variant	64839							g.chr5:107197556G>A	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.1971C>T	5.37:g.107197556G>A			Somatic				FBXL17_ENST00000359660.5_Silent_p.N259N	p.N657N	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)	9	2377	-		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)	657					A1A4E3	Silent	SNP	ENST00000542267.1	37	c.1971C>T	CCDS54886.1																																																																																				0.577	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				17	33	0	0	0	1	0	17	33					A	107197556	G	A	107197556	2	1	48	1	0	0	0	0	0	0	0	1	5721	1136	40	1		1	FBXL17	5	107197556	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	434345	107197556	73717704	1516	5984										
MAN2A1	4124	broad.mit.edu	37	chr5	109124646	109124646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatttacagactttttcattCgttaatggttttggagaaga	9	4	1	3	rs370085257		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:109124646C>T	ENST00000261483.4	+	11	2824	c.1772C>T	c.(1771-1773)tCg>tTg	p.S591L		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	591					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)		CTTTTTCATTCGTTAATGGTT	0.313																																						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.(1771-1773)tCg>tTg		mannosidase, alpha, class 2A, member 1		C	LEU/SER	1,4403		0,1,2201	75	77	76		1772	5.7	0.7	5		76	0,8588		0,0,4294	no	missense	MAN2A1	NM_002372.2	145	0,1,6495	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	591/1145	109124646	1,12991	2202	4294	6496	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.chr5:109124646C>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1772C>T	5.37:g.109124646C>T	ENSP00000261483:p.Ser591Leu		Somatic					p.S591L	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	2824	+		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)	591					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.1772C>T	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416357	0.83449	2.27E-4	0.0	ENSG00000112893	ENST00000261483	T	0.74737	-0.87	5.72	5.72	0.89469	.	0.141721	0.49305	D	0.000142	D	0.83142	0.5190	M	0.73962	2.25	0.80722	D	1	D	0.58268	0.982	P	0.53035	0.716	D	0.84765	0.0764	10	0.72032	D	0.01	-10.5448	19.8929	0.96937	0.0:1.0:0.0:0.0	.	591	Q16706	MA2A1_HUMAN	L	591	ENSP00000261483:S591L	ENSP00000261483:S591L	S	+	2	0	MAN2A1	109152545	1.000000	0.71417	0.691000	0.30163	0.488000	0.33401	7.109000	0.77062	2.702000	0.92279	0.462000	0.41574	TCG		0.313	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			10	18	0	0	0	1	0	10	18					T	109124646	C	T	109124646	3	4	48	1	0	0	0	0	1	0	0	0	9223	893	31	1	1814	1	MAN2A1	5	109124646	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1927090	109124646	71790614	1517	5985										
MAN2A1	4124	broad.mit.edu	37	chr5	109202582	109202582	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttttaaacaagtttattgtCgaaagtctcacaccttcatc	4	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:109202582C>T	ENST00000261483.4	+	22	4370	c.3318C>T	c.(3316-3318)gtC>gtT	p.V1106V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1106					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)		AGTTTATTGTCGAAAGTCTCA	0.348																																						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.(3316-3318)gtC>gtT		mannosidase, alpha, class 2A, member 1							89	84	86					5																	109202582		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.chr5:109202582C>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"golgi integral membrane protein 7"	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3318C>T	5.37:g.109202582C>T			Somatic					p.V1106V	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)	22	4370	+		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)	1106					Q16767	Silent	SNP	ENST00000261483.4	37	c.3318C>T	CCDS34209.1																																																																																				0.348	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			27	30	0	0	0	1	0	27	30					T	109202582	C	T	109202582	2	4	48	1	0	0	0	0	0	0	0	1	9223	871	31	1		1	MAN2A1	5	109202582	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	77936	109202582	71712678	1518	5986										
APC	324	broad.mit.edu	37	chr5	112151216	112151216	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caactacacgaatggaccatGaaacagccagtgttttgagt	9	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112151216G>T	ENST00000457016.1	+	9	1239	c.859G>T	c.(859-861)Gaa>Taa	p.E287*	APC_ENST00000508376.2_Nonsense_Mutation_p.E287*|APC_ENST00000257430.4_Nonsense_Mutation_p.E287*			P25054	APC_HUMAN	adenomatous polyposis coli	287	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)		AATGGACCATGAAACAGCCAG	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"		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	GRCh37	CM040672	APC	M		c.(859-861)Gaa>Taa		adenomatous polyposis coli							122	109	114					5																	112151216		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.chr5:112151216G>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.859G>T	5.37:g.112151216G>T	ENSP00000413133:p.Glu287*	TSP Lung(16;0.13)	Somatic				APC_ENST00000508376.2_Nonsense_Mutation_p.E287*|APC_ENST00000257430.4_Nonsense_Mutation_p.E287*	p.E287*			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)	9	1239	+		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)	287			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.859G>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	41	8.649263	0.98899	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.11	5.11	0.69529	.	0.227303	0.45126	D	0.000395	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-21.8589	18.9031	0.92451	0.0:0.0:1.0:0.0	.	.	.	.	X	287;269;287;287;287	.	ENSP00000257430:E287X	E	+	1	0	APC	112179115	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	9.560000	0.98139	2.520000	0.84964	0.650000	0.86243	GAA		0.398	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		21	36	1	0	7.41877e-09	1	8.8016e-09	21	36					T	112151216	G	T	112151216	4	4	48	1	0	0	0	0	0	1	0	0	763	1291	45	2	889	2	APC	5	112151216	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2948634	112151216	68764044	1519	5987										
APC	324	broad.mit.edu	37	chr5	112175120	112175120	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttttcaagatgtagttcaTtatcatctttgtcatcagct	6	7	6	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112175120T>G	ENST00000457016.1	+	16	4209	c.3829T>G	c.(3829-3831)Tta>Gta	p.L1277V	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.L1277V|APC_ENST00000257430.4_Missense_Mutation_p.L1277V			P25054	APC_HUMAN	adenomatous polyposis coli	1277	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.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)		ATGTAGTTCATTATCATCTTT	0.343		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(3829-3831)Tta>Gta		adenomatous polyposis coli							53	56	55					5																	112175120		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175120T>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.3829T>G	5.37:g.112175120T>G	ENSP00000413133:p.Leu1277Val	TSP Lung(16;0.13)	Somatic				APC_ENST00000508376.2_Missense_Mutation_p.L1277V|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.L1277V	p.L1277V			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	4209	+		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)	1277			Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.3829T>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.393118	0.42410	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	6.03	3.5	0.40072	.	0.000000	0.85682	D	0.000000	D	0.89532	0.6742	M	0.79926	2.475	0.47153	D	0.999335	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.88492	0.3076	9	.	.	.	-12.7153	8.966	0.35877	0.0:0.1707:0.0:0.8293	.	1279;1277	Q4LE70;P25054	.;APC_HUMAN	V	1277	ENSP00000413133:L1277V;ENSP00000257430:L1277V;ENSP00000427089:L1277V;ENSP00000423828:L1277V	.	L	+	1	2	APC	112203019	0.976000	0.34144	1.000000	0.80357	0.993000	0.82548	0.623000	0.24447	0.950000	0.37743	0.533000	0.62120	TTA		0.343	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		14	28	0	0	0	1	0	14	28					G	112175120	T	G	112175120	3	3	48	1	0	0	0	0	1	0	0	0	763	1490	52	4	3887	4	APC	5	112175120	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	23904	112175120	68740140	1520	5988										
APC	324	broad.mit.edu	37	chr5	112175861	112175861	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaaagatgtggaattaagaAtaatgcctccagttcaggaa	10	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112175861A>G	ENST00000457016.1	+	16	4950	c.4570A>G	c.(4570-4572)Ata>Gta	p.I1524V	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.I1524V|APC_ENST00000257430.4_Missense_Mutation_p.I1524V			P25054	APC_HUMAN	adenomatous polyposis coli	1524	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGAATTAAGAATAATGCCTCC	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"		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(4570-4572)Ata>Gta		adenomatous polyposis coli							77	79	79					5																	112175861		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175861A>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.4570A>G	5.37:g.112175861A>G	ENSP00000413133:p.Ile1524Val	TSP Lung(16;0.13)	Somatic				APC_ENST00000508376.2_Missense_Mutation_p.I1524V|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.I1524V	p.I1524V			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	4950	+		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)	1524			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.4570A>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.949969	0.34377	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90069	-2.61;-2.61;-2.61	6.16	4.96	0.65561	.	0.098581	0.64402	D	0.000002	D	0.85173	0.5636	L	0.54323	1.7	0.45822	D	0.998698	B;B	0.24132	0.098;0.041	B;B	0.21360	0.034;0.014	T	0.81044	-0.1111	9	.	.	.	-20.2222	12.8996	0.58119	0.8785:0.0:0.0:0.1215	.	1526;1524	Q4LE70;P25054	.;APC_HUMAN	V	1524	ENSP00000413133:I1524V;ENSP00000257430:I1524V;ENSP00000427089:I1524V	.	I	+	1	0	APC	112203760	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.493000	0.60341	2.367000	0.80283	0.528000	0.53228	ATA		0.398	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		21	36	0	0	0	1	0	21	36					G	112175861	A	G	112175861	3	3	48	1	0	0	0	0	1	0	0	0	763	101	4	4	4628	4	APC	5	112175861	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	741	112175861	68739399	1521	5989										
APC	324	broad.mit.edu	37	chr5	112177901	112177901	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttgattactggaaaagttCgatctaattcagaaatttca	7	5	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112177901C>T	ENST00000457016.1	+	16	6990	c.6610C>T	c.(6610-6612)Cga>Tga	p.R2204*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.R2204*|APC_ENST00000257430.4_Nonsense_Mutation_p.R2204*			P25054	APC_HUMAN	adenomatous polyposis coli	2204	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGGAAAAGTTCGATCTAATTC	0.363		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(6610-6612)Cga>Tga		adenomatous polyposis coli							61	67	65					5																	112177901		2168	4295	6463	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.chr5:112177901C>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.6610C>T	5.37:g.112177901C>T	ENSP00000413133:p.Arg2204*	TSP Lung(16;0.13)	Somatic				APC_ENST00000508376.2_Nonsense_Mutation_p.R2204*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.R2204*	p.R2204*			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	6990	+		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)	2204			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.6610C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	43	10.353506	0.99389	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	5.92	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.0302	16.353	0.83224	0.133:0.867:0.0:0.0	.	.	.	.	X	2204	.	.	R	+	1	2	APC	112205800	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	2.031000	0.41117	1.462000	0.47948	0.585000	0.79938	CGA		0.363	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		22	48	0	0	0	1	0	22	48					T	112177901	C	T	112177901	4	4	48	1	0	0	0	0	0	1	0	0	763	876	31	1	6668	1	APC	5	112177901	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2040	112177901	68737359	1522	5990										
APC	324	broad.mit.edu	37	chr5	112178190	112178190	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgggtcaagtaaagcaccttCtagatcaggatctagagatt	10	7	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112178190C>A	ENST00000457016.1	+	16	7279	c.6899C>A	c.(6898-6900)tCt>tAt	p.S2300Y	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.S2300Y|APC_ENST00000257430.4_Missense_Mutation_p.S2300Y			P25054	APC_HUMAN	adenomatous polyposis coli	2300	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAGCACCTTCTAGATCAGGA	0.493		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(6898-6900)tCt>tAt		adenomatous polyposis coli							59	55	56					5																	112178190		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112178190C>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6899C>A	5.37:g.112178190C>A	ENSP00000413133:p.Ser2300Tyr	TSP Lung(16;0.13)	Somatic				APC_ENST00000508376.2_Missense_Mutation_p.S2300Y|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S2300Y	p.S2300Y			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	7279	+		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)	2300			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.6899C>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444713	0.43429	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89552	-2.53;-2.53;-2.53	6.02	6.02	0.97574	Adenomatous polyposis coli protein basic domain (1);	0.095150	0.64402	D	0.000001	D	0.93864	0.8037	M	0.66939	2.045	0.53005	D	0.999966	D;D	0.71674	0.998;0.998	D;D	0.68943	0.961;0.961	D	0.92357	0.5894	9	.	.	.	-14.4644	20.5373	0.99239	0.0:1.0:0.0:0.0	.	2302;2300	Q4LE70;P25054	.;APC_HUMAN	Y	2300	ENSP00000413133:S2300Y;ENSP00000257430:S2300Y;ENSP00000427089:S2300Y	.	S	+	2	0	APC	112206089	1.000000	0.71417	0.997000	0.53966	0.625000	0.37756	5.442000	0.66575	2.857000	0.98124	0.650000	0.86243	TCT		0.493	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		20	47	1	0	5.35267e-07	1	6.09026e-07	20	47					A	112178190	C	A	112178190	3	1	48	1	0	0	0	0	1	0	0	0	763	913	32	2	6957	2	APC	5	112178190	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	289	112178190	68737070	1523	5991										
APC	324	broad.mit.edu	37	chr5	112179240	112179240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatttatcaaatggcacctgCtgtttctaaaacagaggatg	8	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112179240C>T	ENST00000457016.1	+	16	8329	c.7949C>T	c.(7948-7950)gCt>gTt	p.A2650V	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.A2650V|APC_ENST00000257430.4_Missense_Mutation_p.A2650V			P25054	APC_HUMAN	adenomatous polyposis coli	2650	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATGGCACCTGCTGTTTCTAAA	0.418		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"D, Mis, N, F, S"	adenomatous polyposis of the colon gene			"E, M, O"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(7948-7950)gCt>gTt		adenomatous polyposis coli							96	105	102					5																	112179240		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112179240C>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.7949C>T	5.37:g.112179240C>T	ENSP00000413133:p.Ala2650Val	TSP Lung(16;0.13)	Somatic				APC_ENST00000508376.2_Missense_Mutation_p.A2650V|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.A2650V	p.A2650V			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	8329	+		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)	2650			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.7949C>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010685	0.35511	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90324	-2.65;-2.65;-2.65	6.17	6.17	0.99709	.	0.252386	0.39759	N	0.001276	D	0.87233	0.6126	L	0.29908	0.895	0.41971	D	0.99075	B;B	0.31383	0.321;0.181	B;B	0.34180	0.177;0.1	T	0.82684	-0.0335	9	.	.	.	-12.0893	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2652;2650	Q4LE70;P25054	.;APC_HUMAN	V	2650	ENSP00000413133:A2650V;ENSP00000257430:A2650V;ENSP00000427089:A2650V	.	A	+	2	0	APC	112207139	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.759000	0.74934	2.941000	0.99782	0.655000	0.94253	GCT		0.418	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		37	49	0	0	0	1	0	37	49					T	112179240	C	T	112179240	3	4	48	1	0	0	0	0	1	0	0	0	763	797	28	3	8007	3	APC	5	112179240	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1050	112179240	68736020	1524	5992										
REEP5	7905	broad.mit.edu	37	chr5	112238187	112238187	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagccactgggtatcatcttCtttgttgggactctctatag	9	10	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112238187C>A	ENST00000379638.4	-	3	589	c.241G>T	c.(241-243)Gaa>Taa	p.E81*	REEP5_ENST00000513339.1_Nonsense_Mutation_p.E81*|REEP5_ENST00000545426.1_Nonsense_Mutation_p.E81*|REEP5_ENST00000474542.2_5'UTR|REEP5_ENST00000504247.1_Intron	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	81						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		GTATCATCTTCTTTGTTGGGA	0.373																																						ENST00000379638.4																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						c.(241-243)Gaa>Taa		receptor accessory protein 5							139	138	138					5																	112238187		2202	4300	6502	SO:0001587	stop_gained	7905					integral to membrane	protein binding	g.chr5:112238187C>A	BC000232	CCDS4109.2	5q22-q23	2008-02-05	2006-02-07	2006-02-07	ENSG00000129625	ENSG00000129625		"Receptor accessory proteins"	30077	protein-coding gene	gene with protein product	"deleted in polyposis 1", "polyposis locus protein 1", "polyposis coli region hypothetical protein DP1"	125265	"chromosome 5 open reading frame 18"	C5orf18		16271481, 15550249	Standard	NM_005669		Approved	DP1, TB2, D5S346	uc003kqe.1	Q00765	OTTHUMG00000128807	ENST00000379638.4:c.241G>T	5.37:g.112238187C>A	ENSP00000368959:p.Glu81*		Somatic				REEP5_ENST00000545426.1_Nonsense_Mutation_p.E81*|REEP5_ENST00000474542.2_5'UTR|REEP5_ENST00000513339.1_Nonsense_Mutation_p.E81*|REEP5_ENST00000504247.1_Intron	p.E81*	NM_005669.4	NP_005660.4	WXS	Illumina GAIIx	Phase_I	Q00765	REEP5_HUMAN		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)	3	589	-		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	81					B7Z681|D3DT04|Q04198|Q5QGT0|Q9BWH9	Nonsense_Mutation	SNP	ENST00000379638.4	37	c.241G>T	CCDS4109.2	.	.	.	.	.	.	.	.	.	.	C	34	5.365995	0.95900	.	.	ENSG00000129625	ENST00000379638;ENST00000513339;ENST00000545426;ENST00000261482	.	.	.	5.73	5.73	0.89815	.	0.245025	0.46758	D	0.000263	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-16.4334	19.9036	0.96999	0.0:1.0:0.0:0.0	.	.	.	.	X	81;81;81;72	.	ENSP00000261482:E72X	E	-	1	0	REEP5	112266086	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.706000	0.92434	0.655000	0.94253	GAA		0.373	REEP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250739.2	NM_005669		16	41	1	0	9.7654e-05	1	0.000105618	16	41					A	112238187	C	A	112238187	4	1	48	1	0	0	0	0	0	1	0	0	13223	922	32	2	340	2	REEP5	5	112238187	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	58947	112238187	68677073	1525	5993										
YTHDC2	64848	broad.mit.edu	37	chr5	112903438	112903438	+	Missense_Mutation	SNP	A	A	C													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaatgaccagagcccatagaAtagctaatattagatgttgt							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112903438A>C	ENST00000161863.4	+	23	3349	c.3136A>C	c.(3136-3138)Ata>Cta	p.I1046L		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1046					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)		AGCCCATAGAATAGCTAATAT	0.418																																						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.(3136-3138)Ata>Cta		YTH domain containing 2							90	84	86					5																	112903438		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112903438A>C	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3136A>C	5.37:g.112903438A>C	ENSP00000161863:p.Ile1046Leu		Somatic					p.I1046L	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)	23	3349	+		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)	1046					B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.3136A>C	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.064871	0.36470	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.02395	4.31	5.47	5.47	0.80525	Domain of unknown function DUF1605 (1);	0.044150	0.85682	D	0.000000	T	0.02418	0.0074	N	0.08118	0	0.80722	D	1	B	0.20887	0.049	B	0.22880	0.042	T	0.59118	-0.7514	10	0.45353	T	0.12	.	15.5343	0.75990	1.0:0.0:0.0:0.0	.	1046	Q9H6S0	YTDC2_HUMAN	L	1046;956	ENSP00000161863:I1046L	ENSP00000161863:I1046L	I	+	1	0	YTHDC2	112931337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.343000	0.90052	2.070000	0.61991	0.533000	0.62120	ATA		0.418	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		13	31	0	0	0	1	0	13	31					C	112903438	A	C	112903438	3	2	48	1	0	0	0	0	1	0	0	0	17512	101	4	4	3226	4	YTHDC2	5	112903438	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	665251	112903438	68011822	1526	5994	18	2								
YTHDC2	64848	broad.mit.edu	37	chr5	112903439	112903439	+	Missense_Mutation	SNP	T	T	C													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatgaccagagcccatagaaTagctaatattagatgttgtt							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112903439T>C	ENST00000161863.4	+	23	3350	c.3137T>C	c.(3136-3138)aTa>aCa	p.I1046T		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1046					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)		GCCCATAGAATAGCTAATATT	0.423																																						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.(3136-3138)aTa>aCa		YTH domain containing 2							89	84	86					5																	112903439		2202	4300	6502	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112903439T>C	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3137T>C	5.37:g.112903439T>C	ENSP00000161863:p.Ile1046Thr		Somatic					p.I1046T	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)	23	3350	+		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)	1046					B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.3137T>C	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.115179	0.37339	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.02525	4.26	5.47	5.47	0.80525	Domain of unknown function DUF1605 (1);	0.044150	0.85682	D	0.000000	T	0.02571	0.0078	N	0.08118	0	0.80722	D	1	B	0.21071	0.051	B	0.28465	0.09	T	0.60016	-0.7345	10	0.39692	T	0.17	.	15.5343	0.75990	0.0:0.0:0.0:1.0	.	1046	Q9H6S0	YTDC2_HUMAN	T	1046;956	ENSP00000161863:I1046T	ENSP00000161863:I1046T	I	+	2	0	YTHDC2	112931338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.412000	0.59787	2.070000	0.61991	0.533000	0.62120	ATA		0.423	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		19	26	0	0	0	1	0	19	26					C	112903439	T	C	112903439	3	2	48	1	0	0	0	0	1	0	0	0	17512	1406	49	4	3227	4	YTHDC2	5	112903439	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1	112903439	68011821	1527	5995	18	2								
SEMA6A	57556	broad.mit.edu	37	chr5	115822462	115822462	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacctgttataaggtgtagaAaacgttgccaggacaacatc	9	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:115822462A>C	ENST00000343348.6	-	10	1732	c.945T>G	c.(943-945)ttT>ttG	p.F315L	SEMA6A_ENST00000257414.8_Missense_Mutation_p.F315L|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.F315L|SEMA6A_ENST00000503962.1_5'Flank	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	315	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)		AAGGTGTAGAAAACGTTGCCA	0.438																																						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.(943-945)ttT>ttG		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							130	126	128					5																	115822462		1975	4185	6160	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115822462A>C	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.945T>G	5.37:g.115822462A>C	ENSP00000345512:p.Phe315Leu		Somatic				CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.F315L|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.F315L	p.F315L	NM_020796.3	NP_065847.1	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)	10	1732	-		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)	315			Sema.		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.945T>G	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.375523	0.82682	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263	T;T;T	0.61510	0.1;0.1;0.1	6.07	0.646	0.17789	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.75213	0.3819	M	0.92268	3.29	0.80722	D	1	D;P	0.58970	0.984;0.955	P;P	0.60886	0.88;0.756	T	0.77544	-0.2548	10	0.87932	D	0	.	9.7352	0.40384	0.5691:0.0:0.4309:0.0	.	315;315	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	L	315	ENSP00000345512:F315L;ENSP00000257414:F315L;ENSP00000424388:F315L	ENSP00000257414:F315L	F	-	3	2	SEMA6A	115850361	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.935000	0.40173	0.187000	0.20147	0.477000	0.44152	TTT		0.438	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		28	62	0	0	0	1	0	28	62					C	115822462	A	C	115822462	3	2	48	1	0	0	0	0	1	0	0	0	14054	11	1	4	2187	4	SEMA6A	5	115822462	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2919023	115822462	65092798	1528	5996										
DMXL1	1657	broad.mit.edu	37	chr5	118484688	118484688	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttagctgtgcacatacaaatCgtttagcagtagcttataag	8	7	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:118484688C>T	ENST00000311085.8	+	18	3246	c.3166C>T	c.(3166-3168)Cgt>Tgt	p.R1056C	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1056C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1056										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)		ACATACAAATCGTTTAGCAGT	0.403																																						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.(3166-3168)Cgt>Tgt		Dmx-like 1							158	154	156					5																	118484688		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118484688C>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.3166C>T	5.37:g.118484688C>T	ENSP00000309690:p.Arg1056Cys		Somatic				DMXL1_ENST00000539542.1_Missense_Mutation_p.R1056C	p.R1056C	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)	18	3246	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1056						Missense_Mutation	SNP	ENST00000311085.8	37	c.3166C>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640670	0.29157	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.38887	1.11;1.11	5.5	4.63	0.57726	.	0.048502	0.85682	D	0.000000	T	0.37320	0.0999	M	0.66378	2.025	0.58432	D	0.999999	P;P	0.52692	0.955;0.874	B;B	0.38327	0.271;0.139	T	0.39623	-0.9605	10	0.66056	D	0.02	-14.7341	8.6816	0.34212	0.2722:0.6585:0.0:0.0693	.	1056;1056	F5H269;Q9Y485	.;DMXL1_HUMAN	C	1056	ENSP00000309690:R1056C;ENSP00000439479:R1056C	ENSP00000309690:R1056C	R	+	1	0	DMXL1	118512587	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.921000	0.40035	1.440000	0.47531	0.655000	0.94253	CGT		0.403	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		59	81	0	0	0	1	0	59	81					T	118484688	C	T	118484688	3	4	48	1	0	0	0	0	1	0	0	0	4596	884	31	1	3236	1	DMXL1	5	118484688	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2662226	118484688	62430572	1529	5997										
DMXL1	1657	broad.mit.edu	37	chr5	118556647	118556647	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttatagatcagaagatttCttggttatacatgctcgtga	8	6	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:118556647C>A	ENST00000311085.8	+	36	8165	c.8085C>A	c.(8083-8085)ttC>ttA	p.F2695L	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.F2716L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2695										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)		CAGAAGATTTCTTGGTTATAC	0.343																																						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.(8083-8085)ttC>ttA		Dmx-like 1							88	87	87					5																	118556647		2202	4299	6501	SO:0001583	missense	1657							g.chr5:118556647C>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8085C>A	5.37:g.118556647C>A	ENSP00000309690:p.Phe2695Leu		Somatic				DMXL1_ENST00000539542.1_Missense_Mutation_p.F2716L|DMXL1_ENST00000505312.1_3'UTR	p.F2695L	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)	36	8165	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2695						Missense_Mutation	SNP	ENST00000311085.8	37	c.8085C>A	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604181	0.66445	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.09817	2.94;2.96	5.15	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	L	0.49350	1.555	0.53005	D	0.999969	D;B	0.76494	0.999;0.226	D;B	0.73380	0.98;0.057	T	0.00538	-1.1682	10	0.38643	T	0.18	-11.9768	8.6949	0.34289	0.0:0.7677:0.0:0.2323	.	2716;2695	F5H269;Q9Y485	.;DMXL1_HUMAN	L	2695;2716	ENSP00000309690:F2695L;ENSP00000439479:F2716L	ENSP00000309690:F2695L	F	+	3	2	DMXL1	118584546	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.437000	0.44828	0.586000	0.29626	0.563000	0.77884	TTC		0.343	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		16	27	1	0	1.15088e-07	1	1.32965e-07	16	27					A	118556647	C	A	118556647	3	1	48	1	0	0	0	0	1	0	0	0	4596	912	32	2	8227	2	DMXL1	5	118556647	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	71959	118556647	62358613	1530	5998										
SRFBP1	153443	broad.mit.edu	37	chr5	121355981	121355981	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagaaaccaatacataattCaaaggaaaaaatagcaaaga	6	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:121355981C>A	ENST00000339397.4	+	6	623	c.551C>A	c.(550-552)tCa>tAa	p.S184*		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)		ATACATAATTCAAAGGAAAAA	0.358																																						ENST00000339397.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(550-552)tCa>tAa		serum response factor binding protein 1							113	103	106					5																	121355981		1860	4087	5947	SO:0001587	stop_gained	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121355981C>A	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"BUD22 homolog (S. cerevisiae)"	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.551C>A	5.37:g.121355981C>A	ENSP00000341324:p.Ser184*		Somatic					p.S184*	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	623	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	184						Nonsense_Mutation	SNP	ENST00000339397.4	37	c.551C>A	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046256	0.75846	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.15	3.24	0.37175	.	1.163430	0.05974	N	0.642993	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0261	6.1406	0.20257	0.2392:0.5753:0.1164:0.0692	.	.	.	.	X	184	.	ENSP00000341324:S184X	S	+	2	0	SRFBP1	121383880	0.975000	0.34042	0.906000	0.35671	0.347000	0.29111	3.184000	0.50926	1.286000	0.44565	0.467000	0.42956	TCA		0.358	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		15	32	1	0	1.49906e-05	1	1.64923e-05	15	32					A	121355981	C	A	121355981	4	1	48	1	0	0	0	0	0	1	0	0	15159	838	29	2	573	2	SRFBP1	5	121355981	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2799334	121355981	59559279	1531	5999										
ZNF474	133923	broad.mit.edu	37	chr5	121487801	121487801	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctctctagtgactcctattCtagcctttccccagaaacag	5	14	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:121487801C>A	ENST00000296600.4	+	2	499	c.116C>A	c.(115-117)tCt>tAt	p.S39Y	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron|CTC-441N14.1_ENST00000505209.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	39							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GACTCCTATTCTAGCCTTTCC	0.383																																						ENST00000296600.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21						c.(115-117)tCt>tAt		zinc finger protein 474							94	101	99					5																	121487801		2203	4300	6503	SO:0001583	missense	133923					intracellular	zinc ion binding	g.chr5:121487801C>A	AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"Zinc fingers, C2H2-type"	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.116C>A	5.37:g.121487801C>A	ENSP00000296600:p.Ser39Tyr		Somatic				CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	p.S39Y	NM_207317.1	NP_997200.1	WXS	Illumina GAIIx	Phase_I	Q6S9Z5	ZN474_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)	2	499	+		all_cancers(142;0.229)|Prostate(80;0.0387)	39					A8K4M0|Q96M07	Missense_Mutation	SNP	ENST00000296600.4	37	c.116C>A	CCDS4130.1	.	.	.	.	.	.	.	.	.	.	C	3.730	-0.055683	0.07362	.	.	ENSG00000164185	ENST00000296600;ENST00000504912	T	0.54071	0.59	5.26	1.1	0.20463	.	0.498887	0.16389	U	0.216527	T	0.43722	0.1260	L	0.32530	0.975	0.09310	N	1	D	0.57899	0.981	P	0.48840	0.592	T	0.29305	-1.0016	10	0.59425	D	0.04	-6.5564	6.3659	0.21455	0.1179:0.4629:0.3466:0.0725	.	39	Q6S9Z5	ZN474_HUMAN	Y	39	ENSP00000296600:S39Y	ENSP00000296600:S39Y	S	+	2	0	ZNF474	121515700	0.001000	0.12720	0.000000	0.03702	0.079000	0.17450	0.284000	0.18864	0.276000	0.22118	0.655000	0.94253	TCT		0.383	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250883.2	NM_207317		49	59	1	0	2.46787e-29	1	3.51135e-29	49	59					A	121487801	C	A	121487801	3	1	48	1	0	0	0	0	1	0	0	0	17947	913	32	2	118	2	ZNF474	5	121487801	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	131820	121487801	59427459	1532	6000										
SNCAIP	9627	broad.mit.edu	37	chr5	121761114	121761114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaacaatctattacatattgCggcgtcacagggacacgcag	9	10	2	0	rs553473278		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:121761114C>T	ENST00000261368.8	+	5	1332	c.1070C>T	c.(1069-1071)gCg>gTg	p.A357V	SNCAIP_ENST00000503116.2_Missense_Mutation_p.A404V|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.A404V|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000504884.2_Silent_p.C66C|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261367.7_Missense_Mutation_p.A404V|SNCAIP_ENST00000379538.3_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	357					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)		TTACATATTGCGGCGTCACAG	0.453													C|||	1	0.000199681	0	0	5008	,	,		19204	0		0	False		,,,				2504	0.001					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.(1210-1212)gCg>gTg		synuclein, alpha interacting protein							115	118	117					5																	121761114		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.chr5:121761114C>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.1070C>T	5.37:g.121761114C>T	ENSP00000261368:p.Ala357Val		Somatic				SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.A357V|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.A404V|SNCAIP_ENST00000379533.2_Missense_Mutation_p.A404V|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000504884.2_Silent_p.C66C	p.A404V			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)	7	2639	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	357					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.1211C>T	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635284	0.67130	.	.	ENSG00000064692	ENST00000261368;ENST00000379533;ENST00000261367;ENST00000503116	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.67	5.67	0.87782	Ankyrin repeat-containing domain (4);	0.055615	0.64402	D	0.000001	D	0.90092	0.6905	M	0.78916	2.43	0.80722	D	1	D;P;D	0.89917	0.992;0.912;1.0	P;B;D	0.70227	0.743;0.208;0.968	D	0.90657	0.4587	10	0.87932	D	0	-19.3756	19.773	0.96379	0.0:1.0:0.0:0.0	.	404;404;357	Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;SNCAP_HUMAN	V	357;404;404;404	ENSP00000261368:A357V;ENSP00000368848:A404V;ENSP00000261367:A404V;ENSP00000423199:A404V	ENSP00000261367:A404V	A	+	2	0	SNCAIP	121789013	1.000000	0.71417	0.183000	0.23137	0.032000	0.12392	7.256000	0.78350	2.677000	0.91161	0.655000	0.94253	GCG		0.453	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			41	96	0	0	0	1	0	41	96					T	121761114	C	T	121761114	3	4	48	1	0	0	0	0	1	0	0	0	14856	768	27	1	1084	1	SNCAIP	5	121761114	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	273313	121761114	59154146	1533	6001										
SNX2	6643	broad.mit.edu	37	chr5	122161826	122161826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaaaaaacgtgaagctgaaGcaaaaatgatggttgctaac	9	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:122161826G>A	ENST00000379516.2	+	12	1402	c.1294G>A	c.(1294-1296)Gca>Aca	p.A432T	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.A315T	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	432					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TGAAGCTGAAGCAAAAATGAT	0.338																																						ENST00000379516.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19						c.(1294-1296)Gca>Aca		sorting nexin 2							81	78	79					5																	122161826		2203	4300	6503	SO:0001583	missense	6643				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr5:122161826G>A	AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"Sorting nexins"	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.1294G>A	5.37:g.122161826G>A	ENSP00000368831:p.Ala432Thr		Somatic				SNX2_ENST00000514949.1_Missense_Mutation_p.A315T|SNX2_ENST00000510372.1_3'UTR	p.A432T	NM_003100.2	NP_003091.2	WXS	Illumina GAIIx	Phase_I	O60749	SNX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)	12	1402	+		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	432					B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Missense_Mutation	SNP	ENST00000379516.2	37	c.1294G>A	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722500	0.89298	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	T;T	0.58797	0.31;0.31	5.84	5.84	0.93424	Vps5 C-terminal (1);	0.047774	0.85682	D	0.000000	T	0.62696	0.2449	M	0.69463	2.115	0.80722	D	1	B	0.19935	0.04	B	0.27608	0.081	T	0.59204	-0.7498	10	0.54805	T	0.06	-18.7695	20.1294	0.97995	0.0:0.0:1.0:0.0	.	432	O60749	SNX2_HUMAN	T	432;315	ENSP00000368831:A432T;ENSP00000421663:A315T	ENSP00000368831:A432T	A	+	1	0	SNX2	122189725	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.765000	0.85310	2.758000	0.94735	0.591000	0.81541	GCA		0.338	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100		13	25	0	0	0	1	0	13	25					A	122161826	G	A	122161826	3	1	48	1	0	0	0	0	1	0	0	0	14906	971	34	3	1340	3	SNX2	5	122161826	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	400712	122161826	58753434	1534	6002										
SNX24	28966	broad.mit.edu	37	chr5	122281828	122281828	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaaagtcttggaacagcgaCgacaaggcttggaaacatac	10	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:122281828C>T	ENST00000261369.4	+	3	408	c.223C>T	c.(223-225)Cga>Tga	p.R75*	SNX24_ENST00000395451.4_Nonsense_Mutation_p.R108*|SNX24_ENST00000513881.1_Nonsense_Mutation_p.R75*|SNX24_ENST00000506996.1_Nonsense_Mutation_p.R75*|SNX24_ENST00000511211.1_3'UTR	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	75	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		GGAACAGCGACGACAAGGCTT	0.343																																						ENST00000261369.4																			0				lung(5)	5						c.(223-225)Cga>Tga		sorting nexin 24							52	56	55					5																	122281828		2203	4300	6503	SO:0001587	stop_gained	28966				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr5:122281828C>T	AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652		"Sorting nexins"	21533	protein-coding gene	gene with protein product						12461558	Standard	NM_014035		Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.223C>T	5.37:g.122281828C>T	ENSP00000261369:p.Arg75*		Somatic				SNX24_ENST00000506996.1_Nonsense_Mutation_p.R75*|SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000395451.4_Nonsense_Mutation_p.R108*|SNX24_ENST00000513881.1_Nonsense_Mutation_p.R75*	p.R75*	NM_014035.2	NP_054754.1	WXS	Illumina GAIIx	Phase_I	Q9Y343	SNX24_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)	3	408	+		Prostate(80;0.0387)	75			PX.		Q6UY33	Nonsense_Mutation	SNP	ENST00000261369.4	37	c.223C>T	CCDS4132.1	.	.	.	.	.	.	.	.	.	.	C	37	6.138749	0.97315	.	.	ENSG00000064652	ENST00000261369;ENST00000513881;ENST00000395451;ENST00000506996	.	.	.	5.86	4.03	0.46877	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0748	15.537	0.76011	0.2516:0.7484:0.0:0.0	.	.	.	.	X	75;75;108;75	.	ENSP00000261369:R75X	R	+	1	2	SNX24	122309727	0.992000	0.36948	0.990000	0.47175	0.996000	0.88848	2.813000	0.48002	0.863000	0.35553	0.650000	0.86243	CGA		0.343	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2	NM_014035		11	20	0	0	0	1	0	11	20					T	122281828	C	T	122281828	4	4	48	1	0	0	0	0	0	1	0	0	14910	528	19	1	233	1	SNX24	5	122281828	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	120002	122281828	58633432	1535	6003										
PPIC	5480	broad.mit.edu	37	chr5	122364544	122364544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgacacgatgaaacttgcttCctttatatccatatcctttc	4	11	0	2	rs201311163	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:122364544C>T	ENST00000306442.4	-	3	366	c.251G>A	c.(250-252)gGa>gAa	p.G84E		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	84	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)	AAACTTGCTTCCTTTATATCC	0.393													C|||	2	0.000399361	0	0	5008	,	,		20407	0.002		0	False		,,,				2504	0				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.(250-252)gGa>gAa		peptidylprolyl isomerase C (cyclophilin C)	L-Proline(DB00172)						137	108	118					5																	122364544		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.chr5:122364544C>T	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.251G>A	5.37:g.122364544C>T	ENSP00000303057:p.Gly84Glu		Somatic					p.G84E	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)	3	366	-		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	84			PPIase cyclophilin-type.		A4LBB5	Missense_Mutation	SNP	ENST00000306442.4	37	c.251G>A	CCDS4133.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	26.6	4.755839	0.89843	.	.	ENSG00000168938	ENST00000306442	T	0.46451	0.87	5.22	5.22	0.72569	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);Peptidyl-prolyl cis-trans isomerase, cyclophilin-type, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.72334	0.3447	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.78823	-0.2052	10	0.87932	D	0	.	19.1373	0.93433	0.0:1.0:0.0:0.0	.	84	P45877	PPIC_HUMAN	E	84	ENSP00000303057:G84E	ENSP00000303057:G84E	G	-	2	0	PPIC	122392443	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.732000	0.68563	2.590000	0.87494	0.563000	0.77884	GGA		0.393	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	NM_000943		12	26	0	0	0	1	0	12	26					T	122364544	C	T	122364544	3	4	48	1	0	0	0	0	1	0	0	0	12332	855	30	3	399	3	PPIC	5	122364544	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	82716	122364544	58550716	1536	6004										
CSNK1G3	1456	broad.mit.edu	37	chr5	122927093	122927093	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caacacagagataagatgcaAcaatccaaaaaccaggtttg	7	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:122927093A>G	ENST00000361991.2	+	9	1101	c.1071A>G	c.(1069-1071)caA>caG	p.Q357Q	CSNK1G3_ENST00000395412.1_Silent_p.Q357Q|CSNK1G3_ENST00000521364.1_Silent_p.Q357Q|CSNK1G3_ENST00000395411.1_Silent_p.Q357Q|CSNK1G3_ENST00000511130.2_Silent_p.Q245Q|CSNK1G3_ENST00000345990.4_Silent_p.Q357Q|CSNK1G3_ENST00000512718.3_Silent_p.Q282Q|CSNK1G3_ENST00000510842.2_Silent_p.Q358Q|CSNK1G3_ENST00000360683.2_Silent_p.Q357Q			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	357					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)		ATAAGATGCAACAATCCAAAA	0.383																																					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.(1069-1071)caA>caG		casein kinase 1, gamma 3							103	88	93					5																	122927093		2203	4300	6503	SO:0001819	synonymous_variant	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122927093A>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.1071A>G	5.37:g.122927093A>G			Somatic				CSNK1G3_ENST00000521364.1_Silent_p.Q357Q|CSNK1G3_ENST00000512718.3_Silent_p.Q282Q|CSNK1G3_ENST00000510842.2_Silent_p.Q358Q|CSNK1G3_ENST00000511130.2_Silent_p.Q245Q|CSNK1G3_ENST00000360683.2_Silent_p.Q357Q|CSNK1G3_ENST00000361991.2_Silent_p.Q357Q|CSNK1G3_ENST00000395411.1_Silent_p.Q357Q|CSNK1G3_ENST00000345990.4_Silent_p.Q357Q	p.Q357Q	NM_001044723.1	NP_001038188.1	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)	10	1790	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	357					A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Silent	SNP	ENST00000361991.2	37	c.1071A>G	CCDS4135.1	.	.	.	.	.	.	.	.	.	.	A	7.373	0.627199	0.14257	.	.	ENSG00000151292	ENST00000515322	.	.	.	4.24	-0.986	0.10252	.	.	.	.	.	T	0.65375	0.2685	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63102	-0.6712	4	.	.	.	.	13.6853	0.62513	0.2758:0.0:0.7242:0.0	.	.	.	.	S	106	.	.	N	+	2	0	CSNK1G3	122954992	0.015000	0.18098	0.996000	0.52242	0.951000	0.60555	-1.062000	0.03468	-0.166000	0.10890	-0.297000	0.09499	AAC		0.383	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		7	29	0	0	0	1	0	7	29					G	122927093	A	G	122927093	2	3	48	1	0	0	0	0	0	0	0	1	3958	40	2	4		4	CSNK1G3	5	122927093	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	562549	122927093	57988167	1537	6005										
ZNF608	57507	broad.mit.edu	37	chr5	123984088	123984089	+	Frame_Shift_Ins	INS	-	-	T													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttcattgttaaggcccttcINStttttgccagaattcttccc							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:123984088_123984089insT	ENST00000306315.5	-	4	2423_2424	c.1988_1989insA	c.(1987-1989)aagfs	p.K663fs	ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.K236fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	663							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)		TAAGGCCCTTCTTTTTGCCAGA	0.51																																						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.(1987-1989)aaafs		zinc finger protein 608																																				SO:0001589	frameshift_variant	57507					intracellular	zinc ion binding	g.chr5:123984088_123984089insT	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.1989dupA	5.37:g.123984093_123984093dupT	ENSP00000307746:p.Lys663fs		Somatic				ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.K236fs	p.K663fs	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	2423_2424	-		all_cancers(142;0.186)|Prostate(80;0.081)	663					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Frame_Shift_Ins	INS	ENST00000306315.5	37	c.1988_1989insA	CCDS34219.1																																																																																				0.51	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		33	83						33	83	---	---	---	---	T	123984089	-	T	123984088	7	5	48	1	0	1	1	0	0	0	0	0	18049	912	32	0	2573	0	ZNF608	5	123984088	Frame_Shift_Ins	INS	-	TCGA-ND-A4WC-01A-21D-A28R-08	1056995	123984088	56931172	1538	6006										
C5orf48	389320	broad.mit.edu	37	chr5	125968261	125968261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaagagattcatttgccacGattttcattaaagcaaggga	9	6	2	2	rs147526168		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:125968261G>A	ENST00000357147.3	+	2	123	c.110G>A	c.(109-111)cGa>cAa	p.R37Q		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		37										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CATTTGCCACGATTTTCATTA	0.393													G|||	1	0.000199681	0	0	5008	,	,		20335	0.001		0	False		,,,				2504	0					ENST00000357147.3																			0				large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						c.(109-111)cGa>cAa		chromosome 5 open reading frame 48							107	100	102					5																	125968261		2203	4300	6503	SO:0001583	missense	389320							g.chr5:125968261G>A																												ENST00000357147.3:c.110G>A	5.37:g.125968261G>A	ENSP00000349669:p.Arg37Gln		Somatic					p.R37Q	NM_207408.1	NP_997291.1	WXS	Illumina GAIIx	Phase_I	Q6ZNM6	CE048_HUMAN			2	123	+			37						Missense_Mutation	SNP	ENST00000357147.3	37	c.110G>A	CCDS4139.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.98	1.799375	0.31869	.	.	ENSG00000196900	ENST00000357147	.	.	.	4.69	1.91	0.25777	.	0.144454	0.31495	N	0.007557	T	0.28034	0.0691	L	0.29908	0.895	0.22001	N	0.999421	B	0.11235	0.004	B	0.09377	0.004	T	0.18116	-1.0347	9	0.49607	T	0.09	-3.8324	8.3764	0.32445	0.1521:0.0:0.7202:0.1277	.	37	Q6ZNM6	CE048_HUMAN	Q	37	.	ENSP00000349669:R37Q	R	+	2	0	C5orf48	125996160	0.761000	0.28439	0.968000	0.41197	0.859000	0.49053	0.426000	0.21363	0.161000	0.19458	-0.797000	0.03246	CGA		0.393	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250923.1			7	18	0	0	0	1	0	7	18					A	125968261	G	A	125968261	3	1	48	1	0	0	0	0	1	0	0	0	2308	1058	37	1	116	1	C5orf48	5	125968261	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1984173	125968261	54946999	1539	6007										
LMNB1	4001	broad.mit.edu	37	chr5	126154643	126154643	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtttggaaaggattcaagaAttagaggacttgcttgctaa	11	4	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:126154643A>G	ENST00000261366.5	+	6	1330	c.969A>G	c.(967-969)gaA>gaG	p.E323E	LMNB1_ENST00000395354.1_Silent_p.E323E|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	323	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		GGATTCAAGAATTAGAGGACT	0.398																																						ENST00000261366.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(967-969)gaA>gaG		lamin B1							104	107	105					5																	126154643		2203	4300	6503	SO:0001819	synonymous_variant	4001				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity	g.chr5:126154643A>G	L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"Intermediate filaments type V, lamins"	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.969A>G	5.37:g.126154643A>G			Somatic				LMNB1_ENST00000395354.1_Silent_p.E323E|LMNB1_ENST00000460265.1_3'UTR	p.E323E	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	WXS	Illumina GAIIx	Phase_I	P20700	LMNB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)	6	1330	+		all_cancers(142;0.103)|Prostate(80;0.081)	323			Coil 2.|Rod.		B2R6J6|Q3SYN7|Q96EI6	Silent	SNP	ENST00000261366.5	37	c.969A>G	CCDS4140.1																																																																																				0.398	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		43	61	0	0	0	1	0	43	61					G	126154643	A	G	126154643	2	3	48	1	0	0	0	0	0	0	0	1	8858	98	4	4		4	LMNB1	5	126154643	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	186382	126154643	54760617	1540	6008										
ADAMTS19	171019	broad.mit.edu	37	chr5	128864216	128864216	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctctgttcttttgcagccaGaactatatattgggcatcat	8	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:128864216G>T	ENST00000274487.4	+	6	1301	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	386	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					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)		TTTGCAGCCAGAACTATATAT	0.333																																						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.(1156-1158)Gaa>Taa		ADAM metallopeptidase with thrombospondin type 1 motif, 19							55	59	58					5																	128864216		2203	4300	6503	SO:0001587	stop_gained	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128864216G>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.1156G>T	5.37:g.128864216G>T	ENSP00000274487:p.Glu386*		Somatic				CTC-575N7.1_ENST00000503616.1_RNA	p.E386*	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)	6	1301	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	386			Peptidase M12B.			Nonsense_Mutation	SNP	ENST00000274487.4	37	c.1156G>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931691	0.52866	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.24	4.24	0.50183	.	0.345756	0.26844	N	0.022214	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9366	0.89014	0.0:0.0:1.0:0.0	.	.	.	.	X	386	.	.	E	+	1	0	ADAMTS19	128892115	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	4.197000	0.58413	2.636000	0.89361	0.655000	0.94253	GAA		0.333	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		15	16	1	0	1.05317e-09	1	1.27574e-09	15	16					T	128864216	G	T	128864216	4	4	48	1	0	0	0	0	0	1	0	0	264	943	33	2	1178	2	ADAMTS19	5	128864216	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2709573	128864216	52051044	1541	6009										
CHSY3	337876	broad.mit.edu	37	chr5	129521284	129521284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctacaataaagtcattctaTctggcttaaggccattcaga	6	9	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:129521284T>C	ENST00000305031.4	+	3	2807	c.2449T>C	c.(2449-2451)Tct>Cct	p.S817P		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	817					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)		AGTCATTCTATCTGGCTTAAG	0.408																																						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.(2449-2451)Tct>Cct		chondroitin sulfate synthase 3							84	83	83					5																	129521284		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129521284T>C	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2449T>C	5.37:g.129521284T>C	ENSP00000302629:p.Ser817Pro		Somatic					p.S817P	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	2807	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	817					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.2449T>C	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.020062	0.35606	.	.	ENSG00000198108	ENST00000305031	T	0.35973	1.28	3.88	2.69	0.31865	.	0.128116	0.35585	N	0.003115	T	0.46308	0.1386	M	0.86864	2.845	0.49915	D	0.999839	B	0.32382	0.368	B	0.38500	0.275	T	0.47129	-0.9141	9	.	.	.	.	11.0981	0.48157	0.0:0.0:0.1555:0.8445	.	817	Q70JA7	CHSS3_HUMAN	P	817	ENSP00000302629:S817P	.	S	+	1	0	CHSY3	129549183	1.000000	0.71417	0.514000	0.27761	0.910000	0.53928	3.229000	0.51278	0.822000	0.34565	0.528000	0.53228	TCT		0.408	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		4	56	0	0	0	1	0	4	56					C	129521284	T	C	129521284	3	2	48	1	0	0	0	0	1	0	0	0	3415	1435	50	4	2459	4	CHSY3	5	129521284	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	657068	129521284	51393976	1542	6010										
KIF3A	11127	broad.mit.edu	37	chr5	132046653	132046653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttactaaacagaacttacccCttctttttttccttttctct	1	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132046653C>T	ENST00000378746.4	-	9	1444	c.1226G>A	c.(1225-1227)aGg>aAg	p.R409K	KIF3A_ENST00000378735.1_Missense_Mutation_p.R409K|KIF3A_ENST00000403231.1_Missense_Mutation_p.R409K|AC004237.1_ENST00000431165.1_RNA	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	409				R -> RDQA (in Ref. 2; BAD93017). {ECO:0000305}.|R -> RDQT (in Ref. 4; AAH45542). {ECO:0000305}.|R -> RIQI (in Ref. 1; AAC72294). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAACTTACCCCTTCTTTTTTT	0.378																																						ENST00000378746.4																			0				endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1225-1227)aGg>aAg		kinesin family member 3A							136	143	141					5																	132046653		2203	4300	6503	SO:0001583	missense	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132046653C>T	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"Kinesins"	6319	protein-coding gene	gene with protein product	"kinesin family protein 3A"	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1226G>A	5.37:g.132046653C>T	ENSP00000368020:p.Arg409Lys		Somatic				KIF3A_ENST00000403231.1_Missense_Mutation_p.R409K|KIF3A_ENST00000378735.1_Missense_Mutation_p.R409K|AC004237.1_ENST00000431165.1_RNA	p.R409K	NM_007054.5	NP_008985.3	WXS	Illumina GAIIx	Phase_I	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1444	-		all_cancers(142;0.0751)|Breast(839;0.198)	409	R -> RDQA (in Ref. 2; BAD93017).|R -> RDQT (in Ref. 4; AAH45542).|R -> RIQI (in Ref. 1; AAC72294).				A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	c.1226G>A	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	C	5.471	0.271976	0.10349	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231;ENST00000450914	T;T;T	0.71222	-0.54;3.68;-0.55	4.84	3.02	0.34903	.	0.132065	0.64402	D	0.000003	T	0.49626	0.1568	N	0.19112	0.55	0.47308	D	0.999385	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	0.39461	-0.9613	10	0.06757	T	0.87	.	11.8098	0.52175	0.0:0.8435:0.0:0.1565	.	409;409;409;408	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	K	409;409;409;409;379	ENSP00000368020:R409K;ENSP00000368009:R409K;ENSP00000385808:R409K	ENSP00000368009:R409K	R	-	2	0	KIF3A	132074552	1.000000	0.71417	0.999000	0.59377	0.581000	0.36288	3.307000	0.51888	1.150000	0.42419	-0.657000	0.03884	AGG		0.378	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		24	49	0	0	0	1	0	24	49					T	132046653	C	T	132046653	3	4	48	1	0	0	0	0	1	0	0	0	8309	681	24	3	909	3	KIF3A	5	132046653	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2525369	132046653	48868607	1543	6011										
CCNI2	645121	broad.mit.edu	37	chr5	132086667	132086667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgggacctctatattgggaCgccgctggacttcttgacta	11	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132086667C>T	ENST00000378731.1	+	4	803	c.752C>T	c.(751-753)aCg>aTg	p.T251M	CCNI2_ENST00000468733.1_3'UTR|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000378719.2_3'UTR	NM_001039780.2	NP_001034869.1	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2	251					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATATTGGGACGCCGCTGGAC	0.493																																						ENST00000378731.1																			0				haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						c.(751-753)aCg>aTg		cyclin I family, member 2							131	128	129					5																	132086667		2203	4300	6503	SO:0001583	missense	645121				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr5:132086667C>T	BC132837	CCDS34236.1, CCDS75297.1	5q31.1	2014-07-03			ENSG00000205089	ENSG00000205089			33869	protein-coding gene	gene with protein product						23707792	Standard	NM_001287252		Approved	FLJ16793	uc003kxq.1	Q6ZMN8	OTTHUMG00000059737	ENST00000378731.1:c.752C>T	5.37:g.132086667C>T	ENSP00000368005:p.Thr251Met		Somatic				CCNI2_ENST00000468733.1_3'UTR|SEPT8_ENST00000378719.2_3'UTR	p.T251M	NM_001039780.2	NP_001034869.1	WXS	Illumina GAIIx	Phase_I	Q6ZMN8	CCNI2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	803	+			251					B2RNE2|B7ZMB7|B7ZMB8	Missense_Mutation	SNP	ENST00000378731.1	37	c.752C>T	CCDS34236.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231981	0.58777	.	.	ENSG00000205089	ENST00000378731	T	0.36520	1.25	5.34	2.43	0.29744	.	0.051345	0.85682	D	0.000000	T	0.58148	0.2102	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	0.985;1.0;1.0	B;D;D	0.91635	0.417;0.993;0.999	T	0.58634	-0.7602	10	0.87932	D	0	.	9.9296	0.41514	0.0:0.7617:0.0:0.2383	.	252;251;251	B7ZMB7;B7ZMB8;Q6ZMN8	.;.;CCNI2_HUMAN	M	251	ENSP00000368005:T251M	ENSP00000368005:T251M	T	+	2	0	CCNI2	132114566	0.993000	0.37304	0.102000	0.21198	0.984000	0.73092	2.931000	0.48932	0.250000	0.21479	0.561000	0.74099	ACG		0.493	CCNI2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132833.1	NM_001039780		32	58	0	0	0	1	0	32	58					T	132086667	C	T	132086667	3	4	48	1	0	0	0	0	1	0	0	0	2929	536	19	1	766	1	CCNI2	5	132086667	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	40014	132086667	48828593	1544	6012										
SEPT8	23176	broad.mit.edu	37	chr5	132099413	132099413	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gataccttgctgtctagtttCttcatggtcactagatctag	8	9	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132099413C>A	ENST00000378719.2	-	4	756	c.519G>T	c.(517-519)aaG>aaT	p.K173N	SEPT8_ENST00000296873.7_Missense_Mutation_p.K173N|SEPT8_ENST00000378701.1_Missense_Mutation_p.K171N|SEPT8_ENST00000378721.4_Missense_Mutation_p.K171N|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000458488.2_Missense_Mutation_p.K173N|SEPT8_ENST00000378699.2_Missense_Mutation_p.K113N|SEPT8_ENST00000378706.1_Missense_Mutation_p.K173N|SEPT8_ENST00000448933.1_Missense_Mutation_p.K113N	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	173	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)			TGTCTAGTTTCTTCATGGTCA	0.537																																						ENST00000296873.7																		SEPT8/AFF4(2)	0				kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11						c.(517-519)aaG>aaT		septin 8							188	194	192					5																	132099413		2083	4229	6312	SO:0001583	missense	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132099413C>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.519G>T	5.37:g.132099413C>A	ENSP00000367991:p.Lys173Asn		Somatic				SEPT8_ENST00000378701.1_Missense_Mutation_p.K171N|SEPT8_ENST00000458488.2_Missense_Mutation_p.K173N|SEPT8_ENST00000378721.4_Missense_Mutation_p.K171N|SEPT8_ENST00000378706.1_Missense_Mutation_p.K173N|SEPT8_ENST00000378719.2_Missense_Mutation_p.K173N|SEPT8_ENST00000448933.1_Missense_Mutation_p.K113N|SEPT8_ENST00000378699.2_Missense_Mutation_p.K113N	p.K173N	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)		4	802	-		all_cancers(142;0.0751)|Breast(839;0.198)	173					A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	c.519G>T	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403775	0.62288	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488;ENST00000453480	T;T;T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29	5.17	2.42	0.29668	.	0.000000	0.85682	D	0.000000	D	0.83876	0.5349	H	0.99312	4.51	0.58432	D	0.999997	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	0.85935	0.1454	10	0.87932	D	0	.	9.912	0.41411	0.0:0.7788:0.0:0.2212	.	171;171;173;173	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	N	173;171;173;113;173;113;171;173;111	ENSP00000367991:K173N;ENSP00000367993:K171N;ENSP00000296873:K173N;ENSP00000399840:K113N;ENSP00000367978:K173N;ENSP00000367971:K113N;ENSP00000367973:K171N;ENSP00000394766:K173N;ENSP00000407421:K111N	ENSP00000296873:K173N	K	-	3	2	SEPT8	132127312	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	3.091000	0.50199	0.579000	0.29504	0.591000	0.81541	AAG		0.537	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		95	168	1	0	7.0627e-44	1	1.02276e-43	95	168					A	132099413	C	A	132099413	3	1	48	1	0	0	0	0	1	0	0	0	14085	912	32	2	1015	2	SEPT8	5	132099413	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	12746	132099413	48815847	1545	6013										
ANKRD43	134548	broad.mit.edu	37	chr5	132150907	132150907	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttctcagaaatctctcgtCgacctactccggggccttta	7	15	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132150907C>T	ENST00000378693.2	+	1	1875	c.1594C>T	c.(1594-1596)Cga>Tga	p.R532*	AC004775.5_ENST00000607389.1_lincRNA	NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	532																	AATCTCTCGTCGACCTACTCC	0.567																																						ENST00000378693.2																			0											c.(1594-1596)Cga>Tga		sosondowah ankyrin repeat domain family member A							27	32	31					5																	132150907		2192	4292	6484	SO:0001587	stop_gained	134548							g.chr5:132150907C>T	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.1594C>T	5.37:g.132150907C>T	ENSP00000367965:p.Arg532*		Somatic					p.R532*	NM_175873.4	NP_787069.3	WXS	Illumina GAIIx	Phase_I	Q2M3V2	ANR43_HUMAN			1	1875	+			532					Q8NAE7	Nonsense_Mutation	SNP	ENST00000378693.2	37	c.1594C>T	CCDS43361.1	.	.	.	.	.	.	.	.	.	.	C	40	8.216907	0.98709	.	.	ENSG00000198944	ENST00000378693	.	.	.	5.63	2.79	0.32731	.	0.224089	0.22536	N	0.058795	.	.	.	.	.	.	0.28158	N	0.929103	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5068	9.6044	0.39624	0.2655:0.5975:0.137:0.0	.	.	.	.	X	532	.	ENSP00000367965:R532X	R	+	1	2	ANKRD43	132178806	0.003000	0.15002	0.024000	0.17045	0.640000	0.38277	0.174000	0.16743	0.422000	0.26005	0.643000	0.83706	CGA		0.567	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		12	34	0	0	0	1	0	12	34					T	132150907	C	T	132150907	4	4	48	1	0	0	0	0	0	1	0	0	671	876	31	1	1596	1	ANKRD43	5	132150907	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	51494	132150907	48764353	1546	6014										
GDF9	2661	broad.mit.edu	37	chr5	132197937	132197937	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggtctttcatgcaagtaaAatttatagacatgtgaatac	7	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132197937A>C	ENST00000378673.2	-	3	1575	c.709T>G	c.(709-711)Ttt>Gtt	p.F237V	GDF9_ENST00000464378.1_5'Flank|GDF9_ENST00000296875.2_Missense_Mutation_p.F237V			O60383	GDF9_HUMAN	growth differentiation factor 9	237					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)			ATGCAAGTAAAATTTATAGAC	0.403																																						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.(709-711)Ttt>Gtt		growth differentiation factor 9							106	105	105					5																	132197937		2203	4300	6503	SO:0001583	missense	2661				female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr5:132197937A>C		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.709T>G	5.37:g.132197937A>C	ENSP00000367942:p.Phe237Val		Somatic				GDF9_ENST00000296875.2_Missense_Mutation_p.F237V	p.F237V			WXS	Illumina GAIIx	Phase_I	O60383	GDF9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	1575	-		all_cancers(142;0.105)|Breast(839;0.198)	237					Q4VAW5	Missense_Mutation	SNP	ENST00000378673.2	37	c.709T>G	CCDS4162.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.746918	0.30955	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.80566	-1.39;-1.39	5.95	-0.94	0.10405	.	0.416166	0.28515	N	0.015073	T	0.67785	0.2930	L	0.49778	1.585	0.09310	N	1	B	0.16603	0.018	B	0.15870	0.014	T	0.50566	-0.8813	10	0.15066	T	0.55	.	7.1779	0.25755	0.5273:0.3489:0.1238:0.0	.	237	O60383	GDF9_HUMAN	V	237	ENSP00000367942:F237V;ENSP00000296875:F237V	ENSP00000296875:F237V	F	-	1	0	GDF9	132225836	0.130000	0.22417	0.000000	0.03702	0.081000	0.17604	0.461000	0.21940	-0.350000	0.08262	-0.256000	0.11100	TTT		0.403	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	NM_005260		28	45	0	0	0	1	0	28	45					C	132197937	A	C	132197937	3	2	48	1	0	0	0	0	1	0	0	0	6327	14	1	4	659	4	GDF9	5	132197937	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	47030	132197937	48717323	1547	6015										
HSPA4	3308	broad.mit.edu	37	chr5	132424107	132424107	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaaaatagagttaaagaaaGaagatatttatgcagtggag	10	1	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132424107G>T	ENST00000304858.2	+	9	1286	c.997G>T	c.(997-999)Gaa>Taa	p.E333*	HSPA4_ENST00000504328.1_3'UTR	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	333					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)			GTTAAAGAAAGAAGATATTTA	0.308																																					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.(997-999)Gaa>Taa		heat shock 70kDa protein 4							46	44	44					5																	132424107		2203	4300	6503	SO:0001587	stop_gained	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132424107G>T	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"Heat shock proteins / HSP70"	5237	protein-coding gene	gene with protein product	"hsp70 RY"	601113	"heat shock 70kD protein 4"			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.997G>T	5.37:g.132424107G>T	ENSP00000302961:p.Glu333*		Somatic				HSPA4_ENST00000504328.1_3'UTR	p.E333*	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)		9	1286	+			333					O95756|Q2TAL4|Q9BUK9	Nonsense_Mutation	SNP	ENST00000304858.2	37	c.997G>T	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	G	39	7.575271	0.98368	.	.	ENSG00000170606	ENST00000304858;ENST00000537974	.	.	.	6.02	6.02	0.97574	.	0.043330	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-24.8118	20.5373	0.99239	0.0:0.0:1.0:0.0	.	.	.	.	X	333	.	ENSP00000302961:E333X	E	+	1	0	HSPA4	132452006	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	2.857000	0.98124	0.650000	0.86243	GAA		0.308	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		11	15	1	0	3.07112e-06	1	3.42433e-06	11	15					T	132424107	G	T	132424107	4	4	48	1	0	0	0	0	0	1	0	0	7421	943	33	2	1031	2	HSPA4	5	132424107	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	226170	132424107	48491153	1548	6016										
FSTL4	23105	broad.mit.edu	37	chr5	132553062	132553062	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttttttctctttgaggacaGatttcttcctgcaaaggaga	8	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132553062G>T	ENST00000265342.7	-	13	1716	c.1467C>A	c.(1465-1467)atC>atA	p.I489I	CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	489						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTGAGGACAGATTTCTTCCT	0.502																																						ENST00000265342.7																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1465-1467)atC>atA		follistatin-like 4							75	73	74					5																	132553062		2203	4300	6503	SO:0001819	synonymous_variant	23105					extracellular region	calcium ion binding	g.chr5:132553062G>T	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1467C>A	5.37:g.132553062G>T			Somatic				CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA	p.I489I	NM_015082.1	NP_055897.1	WXS	Illumina GAIIx	Phase_I	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	1716	-		all_cancers(142;0.244)	489					Q8TBU0|Q9UPU1	Silent	SNP	ENST00000265342.7	37	c.1467C>A	CCDS34238.1																																																																																				0.502	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		10	23	1	0	3.86212e-05	1	4.21111e-05	10	23					T	132553062	G	T	132553062	2	4	48	1	0	0	0	0	0	0	0	1	6087	932	33	2		2	FSTL4	5	132553062	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	128955	132553062	48362198	1549	6017										
DDX46	9879	broad.mit.edu	37	chr5	134162645	134162645	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcaatcactaggtgccaatGaactggctgtgcagaaagca	10	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:134162645G>T	ENST00000354283.4	+	22	3118	c.2983G>T	c.(2983-2985)Gaa>Taa	p.E995*	DDX46_ENST00000452510.2_Nonsense_Mutation_p.E996*			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	995					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)			AGGTGCCAATGAACTGGCTGT	0.413																																					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.(2986-2988)Gaa>Taa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							61	58	59					5																	134162645		2203	4300	6503	SO:0001587	stop_gained	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134162645G>T		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2983G>T	5.37:g.134162645G>T	ENSP00000346236:p.Glu995*		Somatic				DDX46_ENST00000354283.4_Nonsense_Mutation_p.E995*	p.E996*	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)		22	3144	+			995					O94894|Q96EI0|Q9Y658	Nonsense_Mutation	SNP	ENST00000354283.4	37	c.2986G>T	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	42	9.782218	0.99263	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.8042	19.9161	0.97063	0.0:0.0:1.0:0.0	.	.	.	.	X	996;995	.	ENSP00000346236:E995X	E	+	1	0	DDX46	134190544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.624000	0.98398	2.710000	0.92621	0.650000	0.86243	GAA		0.413	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		5	17	1	0	0.184627	1	0.185817	5	17					T	134162645	G	T	134162645	4	4	48	1	0	0	0	0	0	1	0	0	4366	1291	45	2	3069	2	DDX46	5	134162645	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1609583	134162645	46752615	1550	6018										
TGFBI	7045	broad.mit.edu	37	chr5	135383085	135383085	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atccagcagatcattgagatCgaggacacctttgagaccct	9	11	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:135383085C>T	ENST00000442011.2	+	6	908	c.747C>T	c.(745-747)atC>atT	p.I249I	TGFBI_ENST00000305126.8_Silent_p.I249I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	249	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCATTGAGATCGAGGACACCT	0.572																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(745-747)atC>atT		transforming growth factor, beta-induced, 68kDa							240	236	238					5																	135383085		2108	4214	6322	SO:0001819	synonymous_variant	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135383085C>T	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.747C>T	5.37:g.135383085C>T			Somatic				TGFBI_ENST00000305126.8_Silent_p.I249I	p.I249I	NM_000358.2	NP_000349.1	WXS	Illumina GAIIx	Phase_I	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	908	+			249			FAS1 2.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Silent	SNP	ENST00000442011.2	37	c.747C>T	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	C	9.305	1.054134	0.19907	.	.	ENSG00000120708	ENST00000508767	.	.	.	6.0	-5.07	0.02938	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-30.0916	10.9106	0.47106	0.0905:0.2391:0.0:0.6704	.	.	.	.	X	25	.	.	R	+	1	2	TGFBI	135410984	0.000000	0.05858	0.811000	0.32455	0.894000	0.52154	-2.839000	0.00738	-0.987000	0.03494	-1.060000	0.02296	CGA		0.572	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			90	159	0	0	0	1	0	90	159					T	135383085	C	T	135383085	2	4	48	1	0	0	0	0	0	0	0	1	15835	874	31	1		1	TGFBI	5	135383085	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1220440	135383085	45532175	1551	6019										
PKD2L2	27039	broad.mit.edu	37	chr5	137235410	137235410	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatataatgctaatgtaaatCtattttgtattatcaggtga	6	3	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137235410C>A	ENST00000508883.1	+	5	756	c.730C>A	c.(730-732)Cta>Ata	p.L244I	PKD2L2_ENST00000350250.4_Missense_Mutation_p.L210I|PKD2L2_ENST00000290431.5_Missense_Mutation_p.L244I|PKD2L2_ENST00000502810.1_Missense_Mutation_p.L244I|PKD2L2_ENST00000508638.1_Missense_Mutation_p.L244I			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	244					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)			TAATGTAAATCTATTTTGTAT	0.338																																						ENST00000508638.1																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28						c.(730-732)Cta>Ata		polycystic kidney disease 2-like 2							45	46	46					5																	137235410		1820	4066	5886	SO:0001583	missense	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137235410C>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.730C>A	5.37:g.137235410C>A	ENSP00000424725:p.Leu244Ile		Somatic				PKD2L2_ENST00000508883.1_Missense_Mutation_p.L244I|PKD2L2_ENST00000350250.4_Missense_Mutation_p.L210I|PKD2L2_ENST00000290431.5_Missense_Mutation_p.L244I|PKD2L2_ENST00000502810.1_Missense_Mutation_p.L244I	p.L244I	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	785	+			244					A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37	c.730C>A		.	.	.	.	.	.	.	.	.	.	C	18.65	3.668610	0.67814	.	.	ENSG00000078795	ENST00000503015;ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.51	3.73	0.42828	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.48286	D	0.000199	T	0.82107	0.4965	L	0.39514	1.22	0.37449	D	0.914739	D;D;D	0.89917	0.975;0.999;1.0	D;D;D	0.87578	0.951;0.998;0.996	D	0.84634	0.0691	10	0.87932	D	0	-4.6545	11.6893	0.51505	0.0:0.8554:0.0:0.1446	.	244;244;244	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	I	154;210;244;244;244;244	ENSP00000424885:L154I;ENSP00000344177:L210I;ENSP00000423382:L244I;ENSP00000425513:L244I;ENSP00000424725:L244I;ENSP00000290431:L244I	ENSP00000290431:L244I	L	+	1	2	PKD2L2	137263309	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	1.170000	0.31883	0.797000	0.33971	0.655000	0.94253	CTA		0.338	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		14	10	1	0	4.36969e-10	1	5.32873e-10	14	10					A	137235410	C	A	137235410	3	1	48	1	0	0	0	0	1	0	0	0	11977	912	32	2	748	2	PKD2L2	5	137235410	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1852325	137235410	43679850	1552	6020										
NME5	8382	broad.mit.edu	37	chr5	137454535	137454535	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgctggtttttgcttacaaAgctctgtgagtccttcaagc	9	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137454535A>C	ENST00000265191.2	-	5	576	c.527T>G	c.(526-528)cTt>cGt	p.L176R	RNU6-460P_ENST00000391158.1_RNA	NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	176					cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTGCTTACAAAGCTCTGTGAG	0.398																																						ENST00000265191.2																			0				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(526-528)cTt>cGt		NME/NM23 family member 5							70	70	70					5																	137454535		2203	4300	6503	SO:0001583	missense	8382				anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding	g.chr5:137454535A>C	Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"radial spoke 23 homolog (Chlamydomonas)"	603575	"non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.527T>G	5.37:g.137454535A>C	ENSP00000265191:p.Leu176Arg		Somatic					p.L176R	NM_003551.2	NP_003542.1	WXS	Illumina GAIIx	Phase_I	P56597	NDK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		5	576	-			176					B2R5G7	Missense_Mutation	SNP	ENST00000265191.2	37	c.527T>G	CCDS4197.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.417935	0.83449	.	.	ENSG00000112981	ENST00000265191	T	0.61742	0.08	5.82	5.82	0.92795	Dpy-30 motif (1);	0.063133	0.64402	D	0.000005	D	0.83580	0.5285	H	0.96269	3.795	0.51767	D	0.999939	D	0.89917	1.0	D	0.79784	0.993	D	0.88908	0.3357	10	0.87932	D	0	.	15.843	0.78864	1.0:0.0:0.0:0.0	.	176	P56597	NDK5_HUMAN	R	176	ENSP00000265191:L176R	ENSP00000265191:L176R	L	-	2	0	NME5	137482434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.663000	0.83820	2.218000	0.71995	0.482000	0.46254	CTT		0.398	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251286.1	NM_003551		8	16	0	0	0	1	0	8	16					C	137454535	A	C	137454535	3	2	48	1	0	0	0	0	1	0	0	0	10503	72	3	4	119	4	NME5	5	137454535	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	219125	137454535	43460725	1553	6021										
BRD8	10902	broad.mit.edu	37	chr5	137476564	137476564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctcttcaggctagttaagtCcatgggtctgcaggtggcca	12	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137476564C>T	ENST00000254900.5	-	26	3816	c.3445G>A	c.(3445-3447)Gac>Aac	p.D1149N	NME5_ENST00000265191.2_5'Flank	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1149	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)			CTAGTTAAGTCCATGGGTCTG	0.428																																						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.(3445-3447)Gac>Aac		bromodomain containing 8							173	174	174					5																	137476564		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.chr5:137476564C>T	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.3445G>A	5.37:g.137476564C>T	ENSP00000254900:p.Asp1149Asn		Somatic					p.D1149N	NM_139199.1	NP_631938.1	WXS	Illumina GAIIx	Phase_I	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		26	3816	-			1149			Bromo 2.		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.3445G>A	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704832	0.96812	.	.	ENSG00000112983	ENST00000254900;ENST00000427976	T;T	0.32272	1.46;1.46	5.96	5.96	0.96718	Bromodomain (5);	0.000000	0.52532	D	0.000062	T	0.73110	0.3545	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82969	-0.0193	10	0.87932	D	0	-9.3985	19.4101	0.94667	0.0:1.0:0.0:0.0	.	1149	Q9H0E9	BRD8_HUMAN	N	1149;255	ENSP00000254900:D1149N;ENSP00000392646:D255N	ENSP00000254900:D1149N	D	-	1	0	BRD8	137504463	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GAC		0.428	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		69	152	0	0	0	1	0	69	152					T	137476564	C	T	137476564	3	4	48	1	0	0	0	0	1	0	0	0	1508	855	30	3	270	3	BRD8	5	137476564	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	22029	137476564	43438696	1554	6022										
BRD8	10902	broad.mit.edu	37	chr5	137488401	137488401	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcattgctcaactcagagtCattgggatgatcttgttcag	10	8	6	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137488401C>A	ENST00000254900.5	-	21	2997	c.2626G>T	c.(2626-2628)Gac>Tac	p.D876Y		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	876					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)	p.D876Y(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AACTCAGAGTCATTGGGATGA	0.458																																						ENST00000254900.5																			1	Substitution - Missense(1)	p.D876Y(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(2626-2628)Gac>Tac		bromodomain containing 8							125	124	124					5																	137488401		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.chr5:137488401C>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.2626G>T	5.37:g.137488401C>A	ENSP00000254900:p.Asp876Tyr		Somatic					p.D876Y	NM_139199.1	NP_631938.1	WXS	Illumina GAIIx	Phase_I	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		21	2997	-			876					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.2626G>T	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801746	0.70682	.	.	ENSG00000112983	ENST00000254900	T	0.35421	1.31	5.39	5.39	0.77823	.	0.217349	0.29572	N	0.011766	T	0.40767	0.1130	L	0.27053	0.805	0.80722	D	1	D	0.59767	0.986	P	0.54499	0.754	T	0.23084	-1.0198	10	0.62326	D	0.03	-0.3705	16.0138	0.80422	0.0:1.0:0.0:0.0	.	876	Q9H0E9	BRD8_HUMAN	Y	876	ENSP00000254900:D876Y	ENSP00000254900:D876Y	D	-	1	0	BRD8	137516300	0.943000	0.32029	1.000000	0.80357	0.935000	0.57460	0.943000	0.29030	2.795000	0.96236	0.655000	0.94253	GAC		0.458	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		8	109	1	0	0.27861	1	0.279356	8	109					A	137488401	C	A	137488401	3	1	48	1	0	0	0	0	1	0	0	0	1508	826	29	2	1109	2	BRD8	5	137488401	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	11837	137488401	43426859	1555	6023										
KIF20A	10112	broad.mit.edu	37	chr5	137521258	137521258	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcaggaagccagacaacagTcagtggcccatcagcaatca	10	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137521258T>C	ENST00000394894.3	+	16	2210	c.1984T>C	c.(1984-1986)Tca>Cca	p.S662P	KIF20A_ENST00000508792.1_Missense_Mutation_p.S644P	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	662					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)			CAGACAACAGTCAGTGGCCCA	0.517																																						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.(1984-1986)Tca>Cca		kinesin family member 20A							79	81	80					5																	137521258		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.chr5:137521258T>C	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.1984T>C	5.37:g.137521258T>C	ENSP00000378356:p.Ser662Pro		Somatic				KIF20A_ENST00000508792.1_Missense_Mutation_p.S644P	p.S662P	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)		16	2210	+			662					B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	c.1984T>C	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	T	7.792	0.711701	0.15306	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.70869	-0.51;-0.52	5.1	1.06	0.20224	.	0.743865	0.11527	N	0.555102	T	0.48241	0.1489	N	0.08118	0	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31503	-0.9941	10	0.30078	T	0.28	-0.519	10.3876	0.44150	0.0:0.6709:0.0:0.3291	.	644;662	B4DL79;O95235	.;KI20A_HUMAN	P	662;644	ENSP00000378356:S662P;ENSP00000420880:S644P	ENSP00000378356:S662P	S	+	1	0	KIF20A	137549157	0.000000	0.05858	0.728000	0.30774	0.810000	0.45777	-0.736000	0.04882	0.324000	0.23333	-0.479000	0.04858	TCA		0.517	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		50	72	0	0	0	1	0	50	72					C	137521258	T	C	137521258	3	2	48	1	0	0	0	0	1	0	0	0	8295	1667	58	4	2042	4	KIF20A	5	137521258	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	32857	137521258	43394002	1556	6024										
CDC23	8697	broad.mit.edu	37	chr5	137548851	137548851	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacatctcaccatttgctacTgtgtagtaggccccgctccc	7	15	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137548851T>C	ENST00000394886.2	-	1	181	c.151A>G	c.(151-153)Agt>Ggt	p.S51G	CDC23_ENST00000394884.3_Missense_Mutation_p.S51G|CDC23_ENST00000505120.1_Missense_Mutation_p.S51G	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	51					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CATTTGCTACTGTGTAGTAGG	0.537																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(151-153)Agt>Ggt		cell division cycle 23							101	109	106					5																	137548851		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137548851T>C	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1724	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 8"	603462	"CDC23 (cell division cycle 23, yeast, homolog)", "cell division cycle 23 homolog (S. cerevisiae)"			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.151A>G	5.37:g.137548851T>C	ENSP00000378350:p.Ser51Gly		Somatic				CDC23_ENST00000394884.3_Missense_Mutation_p.S51G|CDC23_ENST00000505120.1_Missense_Mutation_p.S51G	p.S51G	NM_004661.3	NP_004652.2	WXS	Illumina GAIIx	Phase_I	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		1	181	-			51					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.151A>G	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	T	24.4	4.525937	0.85600	.	.	ENSG00000094880	ENST00000394886;ENST00000394884;ENST00000505120	T;T;T	0.56611	0.45;0.45;0.45	5.93	4.71	0.59529	Cdc23 (1);	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.62209	1.925	0.80722	D	1	D;P	0.71674	0.998;0.711	D;P	0.63488	0.915;0.534	T	0.67256	-0.5716	10	0.54805	T	0.06	-13.3772	11.8033	0.52139	0.1314:0.0:0.0:0.8686	.	51;51	Q9UJX2-2;Q9UJX2	.;CDC23_HUMAN	G	51	ENSP00000378350:S51G;ENSP00000378348:S51G;ENSP00000423704:S51G	ENSP00000378348:S51G	S	-	1	0	CDC23	137576750	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.516000	0.60496	2.281000	0.76405	0.533000	0.62120	AGT		0.537	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			9	193	0	0	0	1	0	9	193					C	137548851	T	C	137548851	3	2	48	1	0	0	0	0	1	0	0	0	3063	1580	55	4	1706	4	CDC23	5	137548851	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	27593	137548851	43366409	1557	6025										
KDM3B	51780	broad.mit.edu	37	chr5	137754915	137754915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcagaaggctaaagaagaaAcaaaaggtgagatgcacaca	10	7	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137754915A>G	ENST00000314358.5	+	14	3909	c.3709A>G	c.(3709-3711)Aca>Gca	p.T1237A	KDM3B_ENST00000542866.1_Missense_Mutation_p.T269A|KDM3B_ENST00000394866.1_Missense_Mutation_p.T893A|KDM3B_ENST00000508386.1_3'UTR	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1237					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						TAAAGAAGAAACAAAAGGTGA	0.478																																						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.(3709-3711)Aca>Gca		lysine (K)-specific demethylase 3B							58	60	60					5																	137754915		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.chr5:137754915A>G	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.3709A>G	5.37:g.137754915A>G	ENSP00000326563:p.Thr1237Ala		Somatic				KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000394866.1_Missense_Mutation_p.T893A|KDM3B_ENST00000542866.1_Missense_Mutation_p.T269A	p.T1237A	NM_016604.3	NP_057688.2	WXS	Illumina GAIIx	Phase_I	Q7LBC6	KDM3B_HUMAN			14	3909	+			1237					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.3709A>G	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.009843	0.93346	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.71461	0.01;-0.57;-0.46	5.63	5.63	0.86233	.	0.046039	0.85682	D	0.000000	T	0.77864	0.4194	L	0.51422	1.61	0.58432	D	0.999998	D;B	0.53151	0.958;0.112	P;B	0.57776	0.827;0.168	T	0.79240	-0.1885	10	0.56958	D	0.05	-11.7967	15.8375	0.78811	1.0:0.0:0.0:0.0	.	893;1237	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	A	1237;1027;893;269	ENSP00000326563:T1237A;ENSP00000378335:T893A;ENSP00000439462:T269A	ENSP00000326563:T1237A	T	+	1	0	KDM3B	137782814	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.938000	0.63519	2.152000	0.67230	0.528000	0.53228	ACA		0.478	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		5	37	0	0	0	1	0	5	37					G	137754915	A	G	137754915	3	3	48	1	0	0	0	0	1	0	0	0	8136	43	2	4	3763	4	KDM3B	5	137754915	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	206064	137754915	43160345	1558	6026										
HARS	3035	broad.mit.edu	37	chr5	140057544	140057544	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcaggatctcgcacatgatCttcaggcactctgcatcagg	9	13	6	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140057544C>A	ENST00000504156.1	-	6	1298	c.579G>T	c.(577-579)aaG>aaT	p.K193N	HARS_ENST00000448240.1_Missense_Mutation_p.K31N|HARS_ENST00000431330.2_Missense_Mutation_p.K79N|HARS_ENST00000438307.2_Missense_Mutation_p.K153N|HARS_ENST00000504366.1_Missense_Mutation_p.K124N|HARS_ENST00000415192.2_Missense_Mutation_p.K119N|HARS_ENST00000307633.3_Missense_Mutation_p.K133N|HARS_ENST00000457527.2_Missense_Mutation_p.K173N	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	193					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)	CGCACATGATCTTCAGGCACT	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.(370-372)aaG>aaT		histidyl-tRNA synthetase	L-Histidine(DB00117)						77	70	72					5																	140057544		2203	4300	6503	SO:0001583	missense	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140057544C>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.579G>T	5.37:g.140057544C>A	ENSP00000425634:p.Lys193Asn		Somatic				HARS_ENST00000504156.1_Missense_Mutation_p.K193N|HARS_ENST00000415192.2_Missense_Mutation_p.K119N|HARS_ENST00000438307.2_Missense_Mutation_p.K153N|HARS_ENST00000431330.2_Missense_Mutation_p.K79N|HARS_ENST00000307633.3_Missense_Mutation_p.K133N|HARS_ENST00000457527.2_Missense_Mutation_p.K173N|HARS_ENST00000448240.1_Missense_Mutation_p.K31N	p.K124N			WXS	Illumina GAIIx	Phase_I	P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	2191	-			193					B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	c.372G>T	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125848	0.77436	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000504366;ENST00000307633;ENST00000448240;ENST00000438307;ENST00000415192	T;T;T;T;T;T;T;T	0.63744	0.95;0.95;0.95;0.95;0.95;-0.06;0.95;0.95	5.35	2.57	0.30868	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.042604	0.85682	D	0.000000	T	0.70133	0.3189	M	0.64630	1.985	0.80722	D	1	P;P;D;D;P;D;D	0.67145	0.585;0.617;0.996;0.996;0.923;0.992;0.961	B;P;P;P;P;P;P	0.62298	0.403;0.583;0.9;0.9;0.694;0.9;0.9	T	0.69405	-0.5154	10	0.52906	T	0.07	-6.823	9.2934	0.37800	0.0:0.7095:0.0:0.2905	.	79;119;133;153;193;173;193	B4E1C5;B4DDD8;B4DHQ1;B4DY73;Q52NV4;D6REN6;P12081	.;.;.;.;.;.;SYHC_HUMAN	N	193;173;79;124;133;31;153;119	ENSP00000425634:K193N;ENSP00000387893:K173N;ENSP00000393244:K79N;ENSP00000430063:K124N;ENSP00000304668:K133N;ENSP00000413605:K31N;ENSP00000411511:K153N;ENSP00000411085:K119N	ENSP00000304668:K133N	K	-	3	2	HARS	140037728	0.988000	0.35896	1.000000	0.80357	0.997000	0.91878	0.300000	0.19156	0.745000	0.32763	0.655000	0.94253	AAG		0.532	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		16	30	1	0	1.02788e-11	1	1.28326e-11	16	30					A	140057544	C	A	140057544	3	1	48	1	0	0	0	0	1	0	0	0	6968	912	32	2	982	2	HARS	5	140057544	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2302629	140057544	40857716	1559	6027										
PCDHA4	56144	broad.mit.edu	37	chr5	140188074	140188074	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgagacgggggctcgccttcGctgtgggccacggccagtgt	17	13	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140188074G>A	ENST00000530339.1	+	1	1302	c.1302G>A	c.(1300-1302)tcG>tcA	p.S434S	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.S434S|PCDHA4_ENST00000356878.4_Silent_p.S434S|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	434	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(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)			GCTCGCCTTCGCTGTGGGCCA	0.612																																						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.(1300-1302)tcG>tcA									96	98	97					5																	140188074		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140188074G>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.1302G>A	5.37:g.140188074G>A			Somatic				PCDHA4_ENST00000356878.4_Silent_p.S434S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Silent_p.S434S	p.S434S	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	1302	+								O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1302G>A	CCDS54916.1																																																																																				0.612	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		93	144	0	0	0	1	0	93	144					A	140188074	G	A	140188074	2	1	48	1	0	0	0	0	0	0	0	1	11535	1074	38	1		1	PCDHA4	5	140188074	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	130530	140188074	40727186	1560	6028										
PCDHA7	56141	broad.mit.edu	37	chr5	140215942	140215942	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggaccacggggagccctcGctgacagccacagccaccgt	12	16	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140215942G>A	ENST00000525929.1	+	1	1974	c.1974G>A	c.(1972-1974)tcG>tcA	p.S658S	PCDHA7_ENST00000378125.3_Silent_p.S658S|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	658	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)|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)			GGGAGCCCTCGCTGACAGCCA	0.657																																					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.(1972-1974)tcG>tcA									56	60	59					5																	140215942		2203	4298	6501	SO:0001819	synonymous_variant	0							g.chr5:140215942G>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.1974G>A	5.37:g.140215942G>A			Somatic				PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.S658S|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.S658S	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	1974	+								O75282	Silent	SNP	ENST00000525929.1	37	c.1974G>A	CCDS54918.1																																																																																				0.657	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		33	77	0	0	0	1	0	33	77					A	140215942	G	A	140215942	2	1	48	1	0	0	0	0	0	0	0	1	11538	1074	38	1		1	PCDHA7	5	140215942	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	27868	140215942	40699318	1561	6029										
PCDHA9	9752	broad.mit.edu	37	chr5	140229206	140229206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgccctgattagtgtgatcGacctagacgcagatgccaac	10	11	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140229206G>A	ENST00000532602.1	+	1	2159	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N	PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.D376N|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	376	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTGTGATCGACCTAGACGC	0.512																																					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.(1126-1128)Gac>Aac									122	111	115					5																	140229206		2196	4273	6469	SO:0001583	missense	0							g.chr5:140229206G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1126G>A	5.37:g.140229206G>A	ENSP00000436042:p.Asp376Asn		Somatic				PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.D376N|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.D376N	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	1850	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1126G>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899636	0.91962	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.73152	-0.72;-0.72	3.79	3.79	0.43588	Cadherin (4);Cadherin-like (1);	0.000000	0.33180	U	0.005193	D	0.90109	0.6910	H	0.98314	4.2	0.43719	D	0.996191	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94301	0.7537	10	0.87932	D	0	.	16.175	0.81844	0.0:0.0:1.0:0.0	.	376;376	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	N	376	ENSP00000436042:D376N;ENSP00000367362:D376N	ENSP00000367362:D376N	D	+	1	0	PCDHA9	140209390	1.000000	0.71417	0.056000	0.19401	0.033000	0.12548	9.316000	0.96319	2.082000	0.62665	0.313000	0.20887	GAC		0.512	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		41	108	0	0	0	1	0	41	108					A	140229206	G	A	140229206	3	1	48	1	0	0	0	0	1	0	0	0	11540	1058	37	1	1128	1	PCDHA9	5	140229206	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	13264	140229206	40686054	1562	6030										
PCDHA9	9752	broad.mit.edu	37	chr5	140229595	140229595	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgggcgagcgctcgctgtcGagctacgtgtcagtgcacgc	15	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140229595G>A	ENST00000532602.1	+	1	2548	c.1515G>A	c.(1513-1515)tcG>tcA	p.S505S	PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.S505S|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	505	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)			GCTCGCTGTCGAGCTACGTGT	0.677																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1513-1515)tcG>tcA									60	66	64					5																	140229595		2196	4270	6466	SO:0001819	synonymous_variant	0							g.chr5:140229595G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1515G>A	5.37:g.140229595G>A			Somatic				PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.S505S|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.S505S	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	2239	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1515G>A	CCDS54920.1																																																																																				0.677	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		55	122	0	0	0	1	0	55	122					A	140229595	G	A	140229595	2	1	48	1	0	0	0	0	0	0	0	1	11540	1045	37	1		1	PCDHA9	5	140229595	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	389	140229595	40685665	1563	6031										
PCDHA9	9752	broad.mit.edu	37	chr5	140230511	140230511	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttatttatttatataattTtttttcttgaaagatattat	2	1	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140230511T>C	ENST00000532602.1	+	1	3427				PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.F811L|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						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)			ttatataattttttttCTTGA	0.353																																					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.(2431-2433)Ttt>Ctt									32	35	34					5																	140230511		1956	4135	6091	SO:0001627	intron_variant	0							g.chr5:140230511T>C	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+37T>C	5.37:g.140230511T>C			Somatic				PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.F811L	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	3155	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.2431T>C	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.353411	0.24512	.	.	ENSG00000204961	ENST00000378122	T	0.49720	0.77	3.38	-1.09	0.09904	.	.	.	.	.	T	0.16085	0.0387	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.24977	-1.0145	8	0.02654	T	1	.	1.8981	0.03261	0.1539:0.0973:0.3512:0.3976	.	811	Q9Y5H5-2	.	L	811	ENSP00000367362:F811L	ENSP00000367362:F811L	F	+	1	0	PCDHA9	140210695	0.002000	0.14202	0.000000	0.03702	0.155000	0.21991	0.524000	0.22940	-0.301000	0.08882	0.358000	0.22013	TTT		0.353	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		46	64	0	0	0	1	0	46	64					C	140230511	T	C	140230511	1	2	48	0	1	0	0	0	0	0	0	0	11540	1841	64	4		4	PCDHA9	5	140230511	Intron	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	916	140230511	40684749	1564	6032										
PCDHA11	56138	broad.mit.edu	37	chr5	140249078	140249078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggacattaacgacaacccGccggtgttctcgctcagaga	10	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140249078G>A	ENST00000398640.2	+	1	390	c.390G>A	c.(388-390)ccG>ccA	p.P130P	PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACCCGCCGGTGTTCT	0.547																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(388-390)ccG>ccA									105	120	115					5																	140249078		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140249078G>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.390G>A	5.37:g.140249078G>A			Somatic				PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.P130P	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	390	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.390G>A	CCDS47284.1																																																																																				0.547	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		83	129	0	0	0	1	0	83	129					A	140249078	G	A	140249078	2	1	48	1	0	0	0	0	0	0	0	1	11530	1074	38	1		1	PCDHA11	5	140249078	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	18567	140249078	40666182	1565	6033										
PCDHA13	56136	broad.mit.edu	37	chr5	140262568	140262568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctggacgtgaatgacaacGccccggaattttaccaatcc	8	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140262568G>A	ENST00000289272.2	+	1	715	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A239T|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	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)			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)			GAATGACAACGCCCCGGAATT	0.458																																					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.(715-717)Gcc>Acc									66	64	65					5																	140262568		2203	4300	6503	SO:0001583	missense	0							g.chr5:140262568G>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.715G>A	5.37:g.140262568G>A	ENSP00000289272:p.Ala239Thr		Somatic				PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A239T|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.A239T	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	715	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.715G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293914	0.40594	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.61742	0.08;0.08	5.58	5.58	0.84498	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.64843	0.2635	M	0.81497	2.545	0.27995	N	0.935513	P;P;D	0.57899	0.869;0.874;0.981	P;B;P	0.49252	0.604;0.311;0.512	T	0.64803	-0.6321	9	0.44086	T	0.13	.	8.8267	0.35059	0.077:0.0:0.7721:0.1509	.	239;239;239	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	T	239	ENSP00000386821:A239T;ENSP00000289272:A239T	ENSP00000289272:A239T	A	+	1	0	PCDHA13	140242752	0.001000	0.12720	0.987000	0.45799	0.854000	0.48673	1.115000	0.31209	2.621000	0.88768	0.561000	0.74099	GCC		0.458	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		25	50	0	0	0	1	0	25	50					A	140262568	G	A	140262568	3	1	48	1	0	0	0	0	1	0	0	0	11532	1087	38	1	717	1	PCDHA13	5	140262568	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	13490	140262568	40652692	1566	6034										
PCDHAC1	9752	broad.mit.edu	37	chr5	140308918	140308918	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtcaatgccatggtaagcaAattttatggaatttgattcc	8	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140308918A>C	ENST00000532602.1	+	2	3427				PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.K814T|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						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)			ATGGTAAGCAAATTTTATGGA	0.403																																					Melanoma(55;1800 1972 14909)	ENST00000409700.3																			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.(2440-2442)aAa>aCa									87	86	87					5																	140308918		2203	4300	6503	SO:0001627	intron_variant	0							g.chr5:140308918A>C	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2395-49616A>C	5.37:g.140308918A>C			Somatic				PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.K814T	NM_031882.2	NP_114088.2	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2617	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.2441A>C	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.472942	0.63737	.	.	ENSG00000248383	ENST00000409700	T	0.52754	0.65	5.83	-6.02	0.02192	.	.	.	.	.	T	0.20495	0.0493	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15178	-1.0446	9	0.30854	T	0.27	.	5.4975	0.16811	0.1491:0.4507:0.0588:0.3415	.	814	Q9H158-2	.	T	814	ENSP00000386356:K814T	ENSP00000386356:K814T	K	+	2	0	PCDHAC1	140289102	0.562000	0.26586	0.001000	0.08648	0.982000	0.71751	0.011000	0.13264	-1.347000	0.02208	0.460000	0.39030	AAA		0.403	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		41	89	0	0	0	1	0	41	89					C	140308918	A	C	140308918	1	2	48	0	1	0	0	0	0	0	0	0	11541	14	1	4		4	PCDHAC1	5	140308918	Intron	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	46350	140308918	40606342	1567	6035										
PCDHB1	29930	broad.mit.edu	37	chr5	140433447	140433447	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggctccagtttgcccccaAattctgataggaataagtct	8	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140433447A>G	ENST00000306549.3	+	1	2469	c.2392A>G	c.(2392-2394)Aat>Gat	p.N798D		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	798					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)			TTTGCCCCCAAATTCTGATAG	0.448																																						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.(2392-2394)Aat>Gat									70	77	75					5																	140433447		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140433447A>G	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.2392A>G	5.37:g.140433447A>G	ENSP00000307234:p.Asn798Asp		Somatic					p.N798D	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	2469	+			798					Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.2392A>G	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	A	1.182	-0.637951	0.03557	.	.	ENSG00000171815	ENST00000306549	T	0.48836	0.8	5.54	1.88	0.25563	.	1.449820	0.04662	N	0.408963	T	0.28830	0.0715	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19484	-1.0304	10	0.33940	T	0.23	.	7.1331	0.25512	0.496:0.0:0.504:0.0	.	798	Q9Y5F3	PCDB1_HUMAN	D	798	ENSP00000307234:N798D	ENSP00000307234:N798D	N	+	1	0	PCDHB1	140413631	0.003000	0.15002	0.938000	0.37757	0.030000	0.12068	0.246000	0.18160	0.511000	0.28236	-0.248000	0.11899	AAT		0.448	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		29	57	0	0	0	1	0	29	57					G	140433447	A	G	140433447	3	3	48	1	0	0	0	0	1	0	0	0	11543	14	1	4	2394	4	PCDHB1	5	140433447	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	124529	140433447	40481813	1568	6036										
PCDHB2	56133	broad.mit.edu	37	chr5	140475653	140475653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acatcaccatcaccgtcaccGacttcgggacacccaggctg	8	17	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140475653G>A	ENST00000194155.4	+	1	1427	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCGTCACCGACTTCGGGAC	0.537																																						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.(1279-1281)Gac>Aac									137	126	130					5																	140475653		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475653G>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1279G>A	5.37:g.140475653G>A	ENSP00000194155:p.Asp427Asn		Somatic					p.D427N	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	1427	+			427			Cadherin 4.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1279G>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218030	0.58560	.	.	ENSG00000112852	ENST00000194155	T	0.65364	-0.15	5.11	5.11	0.69529	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.88254	0.6387	H	0.99058	4.415	0.50813	D	0.999894	D	0.89917	1.0	D	0.97110	1.0	D	0.93088	0.6497	9	0.87932	D	0	.	18.5922	0.91217	0.0:0.0:1.0:0.0	.	427	Q9Y5E7	PCDB2_HUMAN	N	427	ENSP00000194155:D427N	ENSP00000194155:D427N	D	+	1	0	PCDHB2	140455837	1.000000	0.71417	0.113000	0.21522	0.026000	0.11368	7.487000	0.81328	2.542000	0.85734	0.650000	0.86243	GAC		0.537	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		72	150	0	0	0	1	0	72	150					A	140475653	G	A	140475653	3	1	48	1	0	0	0	0	1	0	0	0	11551	1058	37	1	1281	1	PCDHB2	5	140475653	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	42206	140475653	40439607	1569	6037										
PCDHB3	56132	broad.mit.edu	37	chr5	140480258	140480258	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggcgggaggagagcgatttCttagacaaaggcaagtcttg	15	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140480258C>A	ENST00000231130.2	+	1	25	c.25C>A	c.(25-27)Ctt>Att	p.L9I	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	9					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)			AGAGCGATTTCTTAGACAAAG	0.522																																						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.(25-27)Ctt>Att									94	104	101					5																	140480258		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140480258C>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.25C>A	5.37:g.140480258C>A	ENSP00000231130:p.Leu9Ile		Somatic				AC005754.7_ENST00000607216.1_RNA	p.L9I	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	25	+			9					B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.25C>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349169	0.24426	.	.	ENSG00000113205	ENST00000231130	T	0.50548	0.74	4.56	4.56	0.56223	.	.	.	.	.	T	0.45518	0.1346	L	0.60455	1.87	0.09310	N	1	B	0.27498	0.18	B	0.27796	0.083	T	0.33163	-0.9879	9	0.33141	T	0.24	.	13.2037	0.59782	0.0:1.0:0.0:0.0	.	9	Q9Y5E6	PCDB3_HUMAN	I	9	ENSP00000231130:L9I	ENSP00000231130:L9I	L	+	1	0	PCDHB3	140460442	0.010000	0.17322	0.814000	0.32528	0.945000	0.59286	1.013000	0.29937	2.237000	0.73441	0.655000	0.94253	CTT		0.522	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		23	44	1	0	4.26978e-12	1	5.35675e-12	23	44					A	140480258	C	A	140480258	3	1	48	1	0	0	0	0	1	0	0	0	11552	913	32	2	27	2	PCDHB3	5	140480258	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4605	140480258	40435002	1570	6038										
PCDHB5	26167	broad.mit.edu	37	chr5	140515755	140515755	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgaatttttacaatcattcTatgaggtacaggtgcccgag	9	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140515755T>C	ENST00000231134.5	+	1	956	c.739T>C	c.(739-741)Tat>Cat	p.Y247H		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	247	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(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)			ACAATCATTCTATGAGGTACA	0.522																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(739-741)Tat>Cat									175	192	186					5																	140515755		2202	4300	6502	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515755T>C	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.739T>C	5.37:g.140515755T>C	ENSP00000231134:p.Tyr247His		Somatic					p.Y247H	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	956	+			247			Cadherin 3.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.739T>C	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.899488	0.52227	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.57273	0.41	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.83285	0.5221	H	0.98276	4.19	0.46458	D	0.999052	D	0.89917	1.0	D	0.97110	1.0	D	0.90029	0.4133	9	0.87932	D	0	.	15.6541	0.77121	0.0:0.0:0.0:1.0	.	247	Q9Y5E4	PCDB5_HUMAN	H	247;31	ENSP00000231134:Y247H	ENSP00000231134:Y247H	Y	+	1	0	PCDHB5	140495939	1.000000	0.71417	0.913000	0.36048	0.214000	0.24535	6.069000	0.71209	2.166000	0.68216	0.454000	0.30748	TAT		0.522	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		25	275	0	0	0	1	0	25	275					C	140515755	T	C	140515755	3	2	48	1	0	0	0	0	1	0	0	0	11554	1522	53	4	741	4	PCDHB5	5	140515755	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	35497	140515755	40399505	1571	6039										
PCDHB10	56126	broad.mit.edu	37	chr5	140572226	140572226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctgggtttggacgttattCggtgactgaggaaacagaga	14	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140572226C>T	ENST00000239446.4	+	1	285	c.101C>T	c.(100-102)tCg>tTg	p.S34L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	34					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)			GGACGTTATTCGGTGACTGAG	0.507																																						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.(100-102)tCg>tTg									81	91	87					5																	140572226		2202	4300	6502	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572226C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.101C>T	5.37:g.140572226C>T	ENSP00000239446:p.Ser34Leu		Somatic					p.S34L	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	285	+			34					Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.101C>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784704	0.49997	.	.	ENSG00000120324	ENST00000239446	T	0.36340	1.26	3.35	0.325	0.15903	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.59224	0.2178	H	0.94964	3.605	0.09310	N	1	D	0.59357	0.985	P	0.55222	0.771	T	0.52668	-0.8545	9	0.66056	D	0.02	.	8.05	0.30572	0.0:0.5953:0.3142:0.0906	.	34	Q9UN67	PCDBA_HUMAN	L	34	ENSP00000239446:S34L	ENSP00000239446:S34L	S	+	2	0	PCDHB10	140552410	0.006000	0.16342	0.015000	0.15790	0.731000	0.41821	1.435000	0.34969	-0.046000	0.13446	-0.345000	0.07892	TCG		0.507	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		37	73	0	0	0	1	0	37	73					T	140572226	C	T	140572226	3	4	48	1	0	0	0	0	1	0	0	0	11544	893	31	1	103	1	PCDHB10	5	140572226	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	56471	140572226	40343034	1572	6040										
PCDHB14	56122	broad.mit.edu	37	chr5	140603677	140603677	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggtcctagatagagctttAgattatgaacaggaagctga	11	6	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140603677A>C	ENST00000239449.4	+	1	600	c.600A>C	c.(598-600)ttA>ttC	p.L200F	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L47F	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	200	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|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)			ATAGAGCTTTAGATTATGAAC	0.443																																					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.(598-600)ttA>ttC									74	77	76					5																	140603677		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603677A>C	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.600A>C	5.37:g.140603677A>C	ENSP00000239449:p.Leu200Phe		Somatic				PCDHB14_ENST00000515856.2_Missense_Mutation_p.L47F	p.L200F	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	600	+			200			Cadherin 2.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.600A>C	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	13.37	2.216999	0.39201	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.74737	-0.87;-0.87	5.03	-0.504	0.11997	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.90031	0.6887	H	0.98918	4.37	0.33808	D	0.627457	D	0.76494	0.999	D	0.71870	0.975	D	0.90626	0.4563	9	0.87932	D	0	.	10.7992	0.46478	0.5504:0.0:0.4496:0.0	.	200	Q9Y5E9	PCDBE_HUMAN	F	47;200	ENSP00000444518:L47F;ENSP00000239449:L200F	ENSP00000239449:L200F	L	+	3	2	PCDHB14	140583861	0.007000	0.16637	0.105000	0.21289	0.406000	0.30931	-0.753000	0.04792	-0.203000	0.10251	0.533000	0.62120	TTA		0.443	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		36	53	0	0	0	1	0	36	53					C	140603677	A	C	140603677	3	2	48	1	0	0	0	0	1	0	0	0	11548	417	15	4	602	4	PCDHB14	5	140603677	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	31451	140603677	40311583	1573	6041										
PCDHB15	56121	broad.mit.edu	37	chr5	140627280	140627280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttcctgttcgtggcagtgCggctgtgcaggaggagcagg	18	8	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140627280C>T	ENST00000231173.3	+	1	2134	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	712					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)			CGTGGCAGTGCGGCTGTGCAG	0.672																																						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.(2134-2136)Cgg>Tgg									104	112	109					5																	140627280		2202	4298	6500	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140627280C>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.2134C>T	5.37:g.140627280C>T	ENSP00000231173:p.Arg712Trp		Somatic					p.R712W	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	2134	+			712					Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.2134C>T	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469915	0.63625	.	.	ENSG00000113248	ENST00000231173	T	0.17054	2.3	4.48	0.41	0.16387	.	.	.	.	.	T	0.51415	0.1673	H	0.97131	3.945	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.40308	-0.9570	9	0.87932	D	0	.	8.9772	0.35944	0.7244:0.1853:0.0:0.0904	.	712	Q9Y5E8	PCDBF_HUMAN	W	712	ENSP00000231173:R712W	ENSP00000231173:R712W	R	+	1	2	PCDHB15	140607464	0.000000	0.05858	0.570000	0.28473	0.936000	0.57629	0.053000	0.14184	-0.014000	0.14175	-0.323000	0.08544	CGG		0.672	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		83	168	0	0	0	1	0	83	168					T	140627280	C	T	140627280	3	4	48	1	0	0	0	0	1	0	0	0	11549	759	27	1	2136	1	PCDHB15	5	140627280	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	23603	140627280	40287980	1574	6042										
PCDHGA2	56113	broad.mit.edu	37	chr5	140718783	140718783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgctctgaacccgcgaagcgGcagcttggtcactgcgaaca	12	13	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140718783G>A	ENST00000394576.2	+	1	245	c.245G>A	c.(244-246)gGc>gAc	p.G82D	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	82	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)|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)			CCGCGAAGCGGCAGCTTGGTC	0.572																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(244-246)gGc>gAc									61	65	64					5																	140718783		2203	4300	6503	SO:0001583	missense	0							g.chr5:140718783G>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.245G>A	5.37:g.140718783G>A	ENSP00000378077:p.Gly82Asp		Somatic				PCDHGA1_ENST00000517417.1_Intron	p.G82D	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	245	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.245G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	19.61	3.859200	0.71834	.	.	ENSG00000081853	ENST00000394576	T	0.40476	1.03	5.08	5.08	0.68730	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.42172	U	0.000748	D	0.82531	0.5057	H	0.99924	4.96	0.47949	D	0.999558	D;D	0.76494	0.998;0.999	D;D	0.85130	0.993;0.997	D	0.91436	0.5170	10	0.87932	D	0	.	18.4313	0.90627	0.0:0.0:1.0:0.0	.	82;82	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	D	82	ENSP00000378077:G82D	ENSP00000378077:G82D	G	+	2	0	PCDHGA2	140698967	1.000000	0.71417	0.997000	0.53966	0.427000	0.31564	9.629000	0.98417	2.525000	0.85131	0.591000	0.81541	GGC		0.572	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		47	99	0	0	0	1	0	47	99					A	140718783	G	A	140718783	3	1	48	1	0	0	0	0	1	0	0	0	11563	1203	42	3	247	3	PCDHGA2	5	140718783	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	91503	140718783	40196477	1575	6043										
PCDHGA2	56113	broad.mit.edu	37	chr5	140720038	140720038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacactgttcagggggcaccCttatcctcttacatctctat	7	13	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140720038C>T	ENST00000394576.2	+	1	1500	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	500	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(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)			AGGGGGCACCCTTATCCTCTT	0.517																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1498-1500)ccC>ccT									91	95	94					5																	140720038		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140720038C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1500C>T	5.37:g.140720038C>T			Somatic				PCDHGA1_ENST00000517417.1_Intron	p.P500P	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	1500	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.1500C>T	CCDS47289.1																																																																																				0.517	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		41	95	0	0	0	1	0	41	95					T	140720038	C	T	140720038	2	4	48	1	0	0	0	0	0	0	0	1	11563	668	24	3		3	PCDHGA2	5	140720038	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1255	140720038	40195222	1576	6044										
PCDHGB1	56104	broad.mit.edu	37	chr5	140730012	140730012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtccgggagttgccaactcGaaaactgcgggttagtgcag	14	9	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140730012G>A	ENST00000523390.1	+	1	185	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCCAACTCGAAAACTGCGG	0.522											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(184-186)cGa>cAa									77	76	77					5																	140730012		1884	4101	5985	SO:0001583	missense	0							g.chr5:140730012G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.185G>A	5.37:g.140730012G>A	ENSP00000429273:p.Arg62Gln		Somatic	OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R62Q	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	185	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.185G>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	28.3	4.904581	0.92035	.	.	ENSG00000254221	ENST00000523390	T	0.40225	1.04	5.52	4.65	0.58169	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.73651	0.3614	H	0.98256	4.185	0.27532	N	0.951053	D;D	0.67145	0.983;0.996	B;P	0.57720	0.299;0.826	T	0.75210	-0.3398	9	0.72032	D	0.01	.	14.2571	0.66060	0.0727:0.0:0.9273:0.0	.	62;62	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	Q	62	ENSP00000429273:R62Q	ENSP00000429273:R62Q	R	+	2	0	PCDHGB1	140710196	0.896000	0.30565	0.997000	0.53966	0.994000	0.84299	3.584000	0.53936	1.462000	0.47948	0.563000	0.77884	CGA		0.522	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		21	30	0	0	0	1	0	21	30					A	140730012	G	A	140730012	3	1	48	1	0	0	0	0	1	0	0	0	11571	1058	37	1	187	1	PCDHGB1	5	140730012	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	9974	140730012	40185248	1577	6045										
PCDHGB2	56103	broad.mit.edu	37	chr5	140740546	140740546	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagagatcacctactcctttCataatgtggacgaacaagtg	8	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140740546C>A	ENST00000522605.1	+	1	844	c.844C>A	c.(844-846)Cat>Aat	p.H282N	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	282	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACTCCTTTCATAATGTGGA	0.453																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(844-846)Cat>Aat									43	43	43					5																	140740546		1958	4145	6103	SO:0001583	missense	0							g.chr5:140740546C>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.844C>A	5.37:g.140740546C>A	ENSP00000429018:p.His282Asn		Somatic				PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.H282N	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	844	+								Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.844C>A	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.649046	0.00785	.	.	ENSG00000253910	ENST00000522605	T	0.50813	0.73	5.54	3.77	0.43336	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31702	0.0805	N	0.11064	0.09	0.09310	N	1	B;B	0.29432	0.101;0.244	B;B	0.38755	0.015;0.281	T	0.33523	-0.9865	9	0.27082	T	0.32	.	7.4945	0.27481	0.0:0.6142:0.2299:0.156	.	282;282	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	N	282	ENSP00000429018:H282N	ENSP00000429018:H282N	H	+	1	0	PCDHGB2	140720730	0.000000	0.05858	0.993000	0.49108	0.008000	0.06430	-0.399000	0.07250	0.816000	0.34421	-0.136000	0.14681	CAT		0.453	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		4	32	1	0	0.00909568	1	0.00935351	4	32					A	140740546	C	A	140740546	3	1	48	1	0	0	0	0	1	0	0	0	11572	826	29	2	846	2	PCDHGB2	5	140740546	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	10534	140740546	40174714	1578	6046										
PCDHGB3	56102	broad.mit.edu	37	chr5	140750455	140750455	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agatcctgatgtaggtgtcaAttcgctgcagcagtactacc	10	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140750455A>C	ENST00000576222.1	+	1	625	c.494A>C	c.(493-495)aAt>aCt	p.N165T	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	165	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGGTGTCAATTCGCTGCAG	0.498																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(493-495)aAt>aCt									214	211	212					5																	140750455		2042	4189	6231	SO:0001583	missense	0							g.chr5:140750455A>C	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.494A>C	5.37:g.140750455A>C	ENSP00000461862:p.Asn165Thr		Somatic				PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.N165T	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	625	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.494A>C	CCDS58980.1																																																																																				0.498	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		81	166	0	0	0	1	0	81	166					C	140750455	A	C	140750455	3	2	48	1	0	0	0	0	1	0	0	0	11573	101	4	4	496	4	PCDHGB3	5	140750455	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	9909	140750455	40164805	1579	6047										
PCDHGB3	56102	broad.mit.edu	37	chr5	140752101	140752101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgattctggcaatctccctgCgcctgcgatgctcctccaga	9	15	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140752101C>T	ENST00000576222.1	+	1	2271	c.2140C>T	c.(2140-2142)Cgc>Tgc	p.R714C	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	714					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)			AATCTCCCTGCGCCTGCGATG	0.582																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(2140-2142)Cgc>Tgc									68	75	72					5																	140752101		2068	4215	6283	SO:0001583	missense	0							g.chr5:140752101C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2140C>T	5.37:g.140752101C>T	ENSP00000461862:p.Arg714Cys		Somatic				PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.R714C	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	2271	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.2140C>T	CCDS58980.1																																																																																				0.582	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		20	32	0	0	0	1	0	20	32					T	140752101	C	T	140752101	3	4	48	1	0	0	0	0	1	0	0	0	11573	768	27	1	2142	1	PCDHGB3	5	140752101	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1646	140752101	40163159	1580	6048										
PCDHGA6	56109	broad.mit.edu	37	chr5	140754335	140754335	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctcaagcgtcgcccaaattCtggtaacagttctagatgtg	10	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140754335C>A	ENST00000517434.1	+	1	685	c.685C>A	c.(685-687)Ctg>Atg	p.L229M	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	229	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(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCAAATTCTGGTAACAGT	0.542																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(685-687)Ctg>Atg									37	40	39					5																	140754335		1994	4152	6146	SO:0001583	missense	0							g.chr5:140754335C>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.685C>A	5.37:g.140754335C>A	ENSP00000429601:p.Leu229Met		Somatic				PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.L229M	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	685	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.685C>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	6.814	0.519196	0.13005	.	.	ENSG00000253731	ENST00000517434	T	0.52057	0.68	4.99	3.15	0.36227	Cadherin (4);Cadherin-like (1);	1.038480	0.07821	U	0.959803	T	0.62332	0.2419	M	0.78223	2.4	0.09310	N	1	P;P	0.49253	0.713;0.921	P;P	0.53954	0.525;0.738	T	0.46775	-0.9167	10	0.36615	T	0.2	.	10.3099	0.43702	0.142:0.5902:0.2677:0.0	.	229;229	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	M	229	ENSP00000429601:L229M	ENSP00000429601:L229M	L	+	1	2	PCDHGA6	140734519	0.000000	0.05858	0.950000	0.38849	0.043000	0.13939	-0.451000	0.06795	0.759000	0.33084	0.655000	0.94253	CTG		0.542	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		14	21	1	0	6.31663e-08	1	7.35827e-08	14	21					A	140754335	C	A	140754335	3	1	48	1	0	0	0	0	1	0	0	0	11567	912	32	2	687	2	PCDHGA6	5	140754335	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2234	140754335	40160925	1581	6049										
PCDHGA8	9708	broad.mit.edu	37	chr5	140773529	140773529	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaaagaatggtcaagttgtCtgttacacacgtgataattt	10	5	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140773529C>A	ENST00000398604.2	+	1	1149	c.1149C>A	c.(1147-1149)gtC>gtA	p.V383V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	383	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(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)			GTCAAGTTGTCTGTTACACAC	0.363																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1147-1149)gtC>gtA									47	45	46					5																	140773529		1844	4092	5936	SO:0001819	synonymous_variant	0							g.chr5:140773529C>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.1149C>A	5.37:g.140773529C>A			Somatic				PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.V383V	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	1149	+								A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.1149C>A	CCDS47291.1																																																																																				0.363	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		16	26	1	0	2.32078e-09	1	2.7896e-09	16	26					A	140773529	C	A	140773529	2	1	48	1	0	0	0	0	0	0	0	1	11569	900	32	2		2	PCDHGA8	5	140773529	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	19194	140773529	40141731	1582	6050										
PCDHGA9	56107	broad.mit.edu	37	chr5	140784372	140784372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagtgagccagggctcttctCggtggggctgcacacaggtg	16	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140784372C>T	ENST00000573521.1	+	1	1853	c.1853C>T	c.(1852-1854)tCg>tTg	p.S618L	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	618	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)			GGGCTCTTCTCGGTGGGGCTG	0.602																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1852-1854)tCg>tTg									48	55	53					5																	140784372		2188	4300	6488	SO:0001583	missense	0							g.chr5:140784372C>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.1853C>T	5.37:g.140784372C>T	ENSP00000460274:p.Ser618Leu		Somatic				PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.S618L	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	1853	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.1853C>T	CCDS58981.1																																																																																				0.602	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		38	49	0	0	0	1	0	38	49					T	140784372	C	T	140784372	3	4	48	1	0	0	0	0	1	0	0	0	11570	893	31	1	1855	1	PCDHGA9	5	140784372	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	10843	140784372	40130888	1583	6051										
PCDHGA12	26025	broad.mit.edu	37	chr5	140811516	140811516	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccctttaaattagaaaaatCttacggaaattactatagtt	5	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140811516C>A	ENST00000252085.3	+	1	1332	c.1190C>A	c.(1189-1191)tCt>tAt	p.S397Y	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	397	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)|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)			TTAGAAAAATCTTACGGAAAT	0.413																																						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.(1189-1191)tCt>tAt									41	47	45					5																	140811516		2202	4300	6502	SO:0001583	missense	0							g.chr5:140811516C>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.1190C>A	5.37:g.140811516C>A	ENSP00000252085:p.Ser397Tyr		Somatic				PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.S397Y	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	1332	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.1190C>A	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	13.47	2.246886	0.39697	.	.	ENSG00000253159	ENST00000252085	T	0.59224	0.28	4.84	3.89	0.44902	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.79015	0.4375	M	0.89478	3.035	0.09310	N	1	D;D	0.76494	0.999;0.978	D;D	0.68621	0.959;0.951	T	0.70612	-0.4824	9	0.87932	D	0	.	15.3647	0.74510	0.1488:0.8512:0.0:0.0	.	397;397	O60330-2;O60330	.;PCDGC_HUMAN	Y	397	ENSP00000252085:S397Y	ENSP00000252085:S397Y	S	+	2	0	PCDHGA12	140791700	0.001000	0.12720	1.000000	0.80357	0.830000	0.47004	1.592000	0.36676	2.506000	0.84524	0.655000	0.94253	TCT		0.413	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		22	39	1	0	5.26018e-13	1	6.70247e-13	22	39					A	140811516	C	A	140811516	3	1	48	1	0	0	0	0	1	0	0	0	11562	913	32	2	1192	2	PCDHGA12	5	140811516	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	27144	140811516	40103744	1584	6052										
PCDHGC3	5098	broad.mit.edu	37	chr5	140858062	140858062	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacacgctgcggagctgtgaTccggtgttctataggcaggt	14	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140858062T>C	ENST00000308177.3	+	1	2483	c.2379T>C	c.(2377-2379)gaT>gaC	p.D793D	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA7_ENST00000518325.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	793					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)			GGAGCTGTGATCCGGTGTTCT	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.(2377-2379)gaT>gaC									16	19	18					5																	140858062		2192	4298	6490	SO:0001819	synonymous_variant	0							g.chr5:140858062T>C	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.2379T>C	5.37:g.140858062T>C			Somatic	OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.D793D	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	2483	+								O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	c.2379T>C	CCDS4261.1																																																																																				0.582	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		9	15	0	0	0	1	0	9	15					C	140858062	T	C	140858062	2	2	48	1	0	0	0	0	0	0	0	1	11578	1432	50	4		4	PCDHGC3	5	140858062	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	46546	140858062	40057198	1585	6053										
DIAPH1	1729	broad.mit.edu	37	chr5	140951545	140951545	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggcgaaaagttcattgttCtcaaagcggtcctccttcac	8	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140951545C>T	ENST00000398557.4	-	17	2561	c.2421G>A	c.(2419-2421)gaG>gaA	p.E807E	DIAPH1_ENST00000520569.1_Silent_p.E753E|DIAPH1_ENST00000398562.2_Silent_p.E786E|DIAPH1_ENST00000518047.1_Silent_p.E798E|DIAPH1_ENST00000398566.3_Silent_p.E798E|DIAPH1_ENST00000389057.5_Silent_p.E798E|DIAPH1_ENST00000253811.6_Silent_p.E807E|DIAPH1_ENST00000389054.3_Silent_p.E807E	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	807	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCATTGTTCTCAAAGCGGT	0.478																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(2419-2421)gaG>gaA		diaphanous-related formin 1							161	160	160					5																	140951545		1914	4134	6048	SO:0001819	synonymous_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140951545C>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.2421G>A	5.37:g.140951545C>T			Somatic				DIAPH1_ENST00000520569.1_Silent_p.E753E|DIAPH1_ENST00000398557.4_Silent_p.E807E|DIAPH1_ENST00000398566.3_Silent_p.E798E|DIAPH1_ENST00000389057.5_Silent_p.E798E|DIAPH1_ENST00000398562.2_Silent_p.E786E|DIAPH1_ENST00000389054.3_Silent_p.E807E|DIAPH1_ENST00000518047.1_Silent_p.E798E	p.E807E			WXS	Illumina GAIIx	Phase_I	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	2561	-			807			FH2.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	ENST00000398557.4	37	c.2421G>A	CCDS43374.1																																																																																				0.478	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		32	58	0	0	0	1	0	32	58					T	140951545	C	T	140951545	2	4	48	1	0	0	0	0	0	0	0	1	4520	912	32	3		3	DIAPH1	5	140951545	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	93483	140951545	39963715	1586	6054										
ARAP3	64411	broad.mit.edu	37	chr5	141035789	141035789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggctttaacttcttgcggaTtcccaggtagaccttggcac	11	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:141035789T>C	ENST00000239440.4	-	28	3909	c.3844A>G	c.(3844-3846)Atc>Gtc	p.I1282V	ARAP3_ENST00000513878.1_Missense_Mutation_p.I944V|ARAP3_ENST00000508305.1_Missense_Mutation_p.I1113V|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1282	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTCTTGCGGATTCCCAGGTAG	0.557																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(3844-3846)Atc>Gtc		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							107	119	115					5																	141035789		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141035789T>C	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.3844A>G	5.37:g.141035789T>C	ENSP00000239440:p.Ile1282Val		Somatic				ARAP3_ENST00000513878.1_Missense_Mutation_p.I944V|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.I1113V	p.I1282V	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			28	3909	-			1282			PH 3.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.3844A>G	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	T	3.636	-0.074508	0.07184	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.44881	0.91;0.91;0.91	5.44	4.28	0.50868	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.051800	0.85682	N	0.000000	T	0.34308	0.0893	N	0.20574	0.59	0.43183	D	0.995008	B;D;P	0.56968	0.095;0.978;0.928	B;P;P	0.55303	0.043;0.773;0.552	T	0.22277	-1.0221	10	0.02654	T	1	.	10.6265	0.45510	0.0:0.0763:0.0:0.9237	.	944;1113;1282	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	V	1113;1282;944	ENSP00000421826:I1113V;ENSP00000239440:I1282V;ENSP00000421468:I944V	ENSP00000239440:I1282V	I	-	1	0	ARAP3	141015973	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.596000	0.54024	0.912000	0.36772	0.482000	0.46254	ATC		0.557	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		52	80	0	0	0	1	0	52	80					C	141035789	T	C	141035789	3	2	48	1	0	0	0	0	1	0	0	0	840	1493	52	4	814	4	ARAP3	5	141035789	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	84244	141035789	39879471	1587	6055										
PCDH12	51294	broad.mit.edu	37	chr5	141325152	141325152	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgttccagcagcatctccaGcagtgagctcatctccgaga	9	14	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:141325152G>T	ENST00000231484.3	-	4	4559	c.3349C>A	c.(3349-3351)Ctg>Atg	p.L1117M		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1117					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)			AGCATCTCCAGCAGTGAGCTC	0.647																																						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.(3349-3351)Ctg>Atg		protocadherin 12							48	44	45					5																	141325152		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141325152G>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.3349C>A	5.37:g.141325152G>T	ENSP00000231484:p.Leu1117Met		Somatic					p.L1117M	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)		4	4559	-		all_hematologic(541;0.0999)	1117					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.3349C>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584276	0.65992	.	.	ENSG00000113555	ENST00000231484	T	0.56444	0.46	6.07	-5.58	0.02512	.	0.071415	0.56097	D	0.000034	T	0.51822	0.1697	L	0.60455	1.87	0.27037	N	0.9641	D	0.54397	0.966	P	0.50440	0.641	T	0.60005	-0.7347	10	0.62326	D	0.03	.	14.3442	0.66649	0.4628:0.0:0.5372:0.0	.	1117	Q9NPG4	PCD12_HUMAN	M	1117	ENSP00000231484:L1117M	ENSP00000231484:L1117M	L	-	1	2	PCDH12	141305336	1.000000	0.71417	0.589000	0.28718	0.754000	0.42855	1.695000	0.37763	-1.399000	0.02063	-1.728000	0.00702	CTG		0.647	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		29	38	1	0	3.00307e-07	1	3.44266e-07	29	38					T	141325152	G	T	141325152	3	4	48	1	0	0	0	0	1	0	0	0	11519	962	34	5	209	5	PCDH12	5	141325152	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	289363	141325152	39590108	1588	6056										
PCDH12	51294	broad.mit.edu	37	chr5	141335924	141335924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caactggggagtcctggatgCggtatgagacttttccatta	12	8	0	1	rs374457419		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:141335924C>T	ENST00000231484.3	-	1	2703	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	498	Cadherin 5. {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)			GTCCTGGATGCGGTATGAGAC	0.483																																						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.(1492-1494)cGc>cAc		protocadherin 12		C	HIS/ARG	0,4406		0,0,2203	98	97	97		1493	4.3	1	5		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCDH12	NM_016580.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	498/1185	141335924	1,13005	2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141335924C>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1493G>A	5.37:g.141335924C>T	ENSP00000231484:p.Arg498His		Somatic					p.R498H	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	2703	-		all_hematologic(541;0.0999)	498			Cadherin 5.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1493G>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	C	6.652	0.488891	0.12641	0.0	1.16E-4	ENSG00000113555	ENST00000231484	T	0.53640	0.61	5.16	4.3	0.51218	Cadherin (4);Cadherin-like (1);	0.329239	0.34200	N	0.004170	T	0.34600	0.0903	L	0.37750	1.13	0.29331	N	0.866697	B	0.13145	0.007	B	0.10450	0.005	T	0.22591	-1.0212	10	0.38643	T	0.18	.	7.4271	0.27105	0.0:0.7449:0.1668:0.0883	.	498	Q9NPG4	PCD12_HUMAN	H	498	ENSP00000231484:R498H	ENSP00000231484:R498H	R	-	2	0	PCDH12	141316108	0.890000	0.30428	1.000000	0.80357	0.562000	0.35680	0.086000	0.14935	1.411000	0.46957	0.655000	0.94253	CGC		0.483	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		21	41	0	0	0	1	0	21	41					T	141335924	C	T	141335924	3	4	48	1	0	0	0	0	1	0	0	0	11519	768	27	1	2077	1	PCDH12	5	141335924	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	10772	141335924	39579336	1589	6057										
NDFIP1	80762	broad.mit.edu	37	chr5	141524180	141524180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttatcaattatgcaaaagttCggaagatgccagaaactttc	7	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:141524180C>T	ENST00000253814.4	+	7	1077	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W		NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	203					cellular iron ion homeostasis (GO:0006879)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of protein transport (GO:0051224)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transporter activity (GO:0032410)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein ubiquitination (GO:0031398)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of lymphocyte differentiation (GO:0045619)|regulation of myeloid leukocyte differentiation (GO:0002761)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cell cortex (GO:0005938)|endosome (GO:0005768)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAAAAGTTCGGAAGATGCC	0.323																																						ENST00000253814.4																			0				large_intestine(3)|lung(1)|ovary(1)	5						c.(607-609)Cgg>Tgg		Nedd4 family interacting protein 1							96	112	107					5																	141524180		2195	4298	6493	SO:0001583	missense	80762				cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity	g.chr5:141524180C>T	BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507			17592	protein-coding gene	gene with protein product		612050				11042109, 11748237	Standard	NM_030571		Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.607C>T	5.37:g.141524180C>T	ENSP00000253814:p.Arg203Trp		Somatic					p.R203W	NM_030571.3	NP_085048.1	WXS	Illumina GAIIx	Phase_I	Q9BT67	NFIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1077	+		all_hematologic(541;0.0999)	203					B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	Missense_Mutation	SNP	ENST00000253814.4	37	c.607C>T	CCDS4273.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593325	0.86953	.	.	ENSG00000131507	ENST00000253814	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.75273	0.3827	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76820	-0.2818	9	0.87932	D	0	-9.89	15.3198	0.74112	0.1484:0.8516:0.0:0.0	.	203	Q9BT67	NFIP1_HUMAN	W	203	.	ENSP00000253814:R203W	R	+	1	2	NDFIP1	141504364	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.986000	0.49370	2.708000	0.92522	0.563000	0.77884	CGG		0.323	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251859.2	NM_030571		37	71	0	0	0	1	0	37	71					T	141524180	C	T	141524180	3	4	48	1	0	0	0	0	1	0	0	0	10254	875	31	1	633	1	NDFIP1	5	141524180	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	188256	141524180	39391080	1590	6058										
ARHGAP26	23092	broad.mit.edu	37	chr5	142150427	142150427	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagctggacaagaccaacaAattcatcaaggagctcatca	8	10	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:142150427A>C	ENST00000274498.4	+	1	479	c.101A>C	c.(100-102)aAa>aCa	p.K34T	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.K34T	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	34					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)			AAGACCAACAAATTCATCAAG	0.607																																						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.(100-102)aAa>aCa		Rho GTPase activating protein 26							64	57	60					5																	142150427		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.chr5:142150427A>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.101A>C	5.37:g.142150427A>C	ENSP00000274498:p.Lys34Thr		Somatic				ARHGAP26_ENST00000274498.4_Missense_Mutation_p.K34T	p.K34T	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)		1	456	+		all_hematologic(541;0.0416)	34					O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.101A>C	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.518953	0.85495	.	.	ENSG00000145819	ENST00000274498;ENST00000378004	T;T	0.40225	1.04;1.04	5.61	5.61	0.85477	IRSp53/MIM homology domain (IMD) (2);	0.051263	0.85682	D	0.000000	T	0.62974	0.2472	M	0.74647	2.275	0.58432	D	0.999994	D;P	0.67145	0.996;0.941	D;P	0.69142	0.962;0.79	T	0.63422	-0.6641	10	0.39692	T	0.17	.	14.7797	0.69756	1.0:0.0:0.0:0.0	.	34;34	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	T	34	ENSP00000274498:K34T;ENSP00000367243:K34T	ENSP00000274498:K34T	K	+	2	0	ARHGAP26	142130611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.932000	0.70121	2.126000	0.65437	0.460000	0.39030	AAA		0.607	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		30	50	0	0	0	1	0	30	50					C	142150427	A	C	142150427	3	2	48	1	0	0	0	0	1	0	0	0	875	14	1	4	103	4	ARHGAP26	5	142150427	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	626247	142150427	38764833	1591	6059										
SH3RF2	153769	broad.mit.edu	37	chr5	145393376	145393376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtcatcccgcacaaaaaacCtgtccctggtgtcctcgtcc	7	16	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:145393376C>A	ENST00000511217.1	+	4	863	c.811C>A	c.(811-813)Ctg>Atg	p.L271M	SH3RF2_ENST00000359120.4_Missense_Mutation_p.L271M			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	271					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACAAAAAACCTGTCCCTGGT	0.537																																						ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(811-813)Ctg>Atg		SH3 domain containing ring finger 2							85	75	79					5																	145393376		2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145393376C>A	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.811C>A	5.37:g.145393376C>A	ENSP00000424497:p.Leu271Met		Somatic				SH3RF2_ENST00000359120.4_Missense_Mutation_p.L271M	p.L271M			WXS	Illumina GAIIx	Phase_I	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	863	+			271					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.811C>A	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	C	7.758	0.704690	0.15172	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.08008	3.14;3.14	5.32	2.02	0.26589	Src homology-3 domain (1);	0.568243	0.17205	N	0.182951	T	0.03651	0.0104	N	0.04508	-0.205	0.09310	N	1	B	0.25772	0.134	B	0.20577	0.03	T	0.43718	-0.9374	10	0.29301	T	0.29	-2.0558	9.2611	0.37612	0.3813:0.47:0.1488:0.0	.	271	Q8TEC5	SH3R2_HUMAN	M	271	ENSP00000352028:L271M;ENSP00000424497:L271M	ENSP00000352028:L271M	L	+	1	2	SH3RF2	145373569	0.008000	0.16893	0.706000	0.30403	0.789000	0.44602	0.195000	0.17155	0.707000	0.31934	0.591000	0.81541	CTG		0.537	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		27	70	1	0	2.44723e-14	1	3.18537e-14	27	70					A	145393376	C	A	145393376	3	1	48	1	0	0	0	0	1	0	0	0	14274	680	24	5	825	5	SH3RF2	5	145393376	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3242949	145393376	35521884	1592	6060										
PPP2R2B	5521	broad.mit.edu	37	chr5	146077608	146077608	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttattttattgattttttCttctatttctaaactcttca	1	7	6	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:146077608C>A	ENST00000394413.3	-	3	838	c.268G>T	c.(268-270)Gaa>Taa	p.E90*	PPP2R2B_ENST00000508545.2_Nonsense_Mutation_p.E79*|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Nonsense_Mutation_p.E79*|PPP2R2B_ENST00000394414.1_Nonsense_Mutation_p.E156*|PPP2R2B_ENST00000394409.3_Nonsense_Mutation_p.E148*|PPP2R2B_ENST00000453001.1_Nonsense_Mutation_p.E90*|PPP2R2B_ENST00000356826.3_Nonsense_Mutation_p.E90*|PPP2R2B_ENST00000394411.4_Nonsense_Mutation_p.E90*|PPP2R2B_ENST00000504198.1_Nonsense_Mutation_p.E96*|PPP2R2B_ENST00000336640.6_Nonsense_Mutation_p.E93*			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	90					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)			TTGATTTTTTCTTCTATTTCT	0.388																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(268-270)Gaa>Taa		protein phosphatase 2, regulatory subunit B, beta							115	119	118					5																	146077608		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.chr5:146077608C>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.268G>T	5.37:g.146077608C>A	ENSP00000377935:p.Glu90*		Somatic				PPP2R2B_ENST00000336640.6_Nonsense_Mutation_p.E93*|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000504198.1_Nonsense_Mutation_p.E96*|PPP2R2B_ENST00000508545.2_Nonsense_Mutation_p.E79*|PPP2R2B_ENST00000394411.4_Nonsense_Mutation_p.E90*|PPP2R2B_ENST00000356826.3_Nonsense_Mutation_p.E90*|PPP2R2B_ENST00000394409.3_Nonsense_Mutation_p.E148*|PPP2R2B_ENST00000453001.1_Nonsense_Mutation_p.E90*|PPP2R2B_ENST00000394410.2_Nonsense_Mutation_p.E79*|PPP2R2B_ENST00000394414.1_Nonsense_Mutation_p.E156*	p.E90*			WXS	Illumina GAIIx	Phase_I	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	838	-			90					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Nonsense_Mutation	SNP	ENST00000394413.3	37	c.268G>T	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	37	6.161505	0.97338	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	.	.	.	5.74	5.74	0.90152	.	0.042758	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-32.1245	20.2825	0.98528	0.0:1.0:0.0:0.0	.	.	.	.	X	90;79;156;90;90;90;79;93;96;148	.	ENSP00000336591:E93X	E	-	1	0	AC011357.1	146057801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.747000	0.85070	2.873000	0.98535	0.561000	0.74099	GAA		0.388	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		19	41	1	0	5.35267e-07	1	6.09026e-07	19	41					A	146077608	C	A	146077608	4	1	48	1	0	0	0	0	0	1	0	0	12397	922	32	2	1091	2	PPP2R2B	5	146077608	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	684232	146077608	34837652	1593	6061										
STK32A	202374	broad.mit.edu	37	chr5	146722600	146722600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgacaatattttacttgacGaacatggtaagtgagtgatt	9	5	0	4	rs375612505		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:146722600G>A	ENST00000397936.3	+	6	799	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	STK32A_ENST00000398521.3_Missense_Mutation_p.E156K|STK32A_ENST00000541094.1_Missense_Mutation_p.E156K|STK32A_ENST00000398523.3_Missense_Mutation_p.E156K	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	156	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTACTTGACGAACATGGTAA	0.373																																						ENST00000397936.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(466-468)Gaa>Aaa		serine/threonine kinase 32A		G	LYS/GLU,LYS/GLU	0,3686		0,0,1843	171	159	163		466,466	5.9	1	5		163	2,8188		0,2,4093	no	missense,missense	STK32A	NM_001112724.1,NM_145001.3	56,56	0,2,5936	AA,AG,GG		0.0244,0.0,0.0168	probably-damaging,probably-damaging	156/397,156/167	146722600	2,11874	1843	4095	5938	SO:0001583	missense	202374						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr5:146722600G>A		CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.466G>A	5.37:g.146722600G>A	ENSP00000381030:p.Glu156Lys		Somatic				STK32A_ENST00000398523.3_Missense_Mutation_p.E156K|STK32A_ENST00000541094.1_Missense_Mutation_p.E156K|STK32A_ENST00000398521.3_Missense_Mutation_p.E156K	p.E156K	NM_001112724.1	NP_001106195.1	WXS	Illumina GAIIx	Phase_I	Q8WU08	ST32A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	799	+			156			Protein kinase.		B3KSY0	Missense_Mutation	SNP	ENST00000397936.3	37	c.466G>A	CCDS47299.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792934	0.90453	0.0	2.44E-4	ENSG00000169302	ENST00000397936;ENST00000541094;ENST00000398521;ENST00000398523	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.88	5.88	0.94601	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	0.46442	D	0.000282	T	0.62085	0.2399	N	0.11284	0.12	0.54753	D	0.999982	D;D;D;D	0.76494	0.999;0.994;0.999;0.997	D;P;D;P	0.71870	0.975;0.803;0.942;0.871	T	0.62581	-0.6824	10	0.30078	T	0.28	.	15.7267	0.77766	0.0:0.0:1.0:0.0	.	156;156;156;156	B7Z9H7;Q8WU08;Q8WU08-3;Q8WU08-2	.;ST32A_HUMAN;.;.	K	156	ENSP00000381030:E156K;ENSP00000443156:E156K;ENSP00000381533:E156K;ENSP00000381535:E156K	ENSP00000381030:E156K	E	+	1	0	STK32A	146702793	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	6.116000	0.71571	2.769000	0.95229	0.655000	0.94253	GAA		0.373	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001		27	57	0	0	0	1	0	27	57					A	146722600	G	A	146722600	3	1	48	1	0	0	0	0	1	0	0	0	15312	1059	37	1	484	1	STK32A	5	146722600	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	644992	146722600	34192660	1594	6062										
JAKMIP2	9832	broad.mit.edu	37	chr5	147030017	147030017	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgttcgtccaaagcctcctTctgaagttggagtttctgta	9	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147030017T>C	ENST00000265272.5	-	4	1188	c.721A>G	c.(721-723)Aag>Gag	p.K241E	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.K199E|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.K241E	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	241						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGCCTCCTTCTGAAGTTGG	0.478																																						ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(721-723)Aag>Gag		janus kinase and microtubule interacting protein 2							134	125	128					5																	147030017		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147030017T>C	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.721A>G	5.37:g.147030017T>C	ENSP00000265272:p.Lys241Glu		Somatic				JAKMIP2_ENST00000333010.6_Missense_Mutation_p.K199E|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.K241E	p.K241E	NM_014790.3	NP_055605.2	WXS	Illumina GAIIx	Phase_I	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1188	-			241					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.721A>G	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	T	31	5.088521	0.94100	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.39787	1.06;1.06;1.06	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.56035	0.974;0.974;0.974;0.974	D;D;D;D	0.67725	0.953;0.953;0.953;0.953	T	0.67841	-0.5566	10	0.66056	D	0.02	.	16.1864	0.81955	0.0:0.0:0.0:1.0	.	199;241;241;241	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	E	241;241;199;241	ENSP00000421398:K241E;ENSP00000265272:K241E;ENSP00000328989:K199E	ENSP00000265272:K241E	K	-	1	0	JAKMIP2	147010210	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.470000	0.80973	2.288000	0.76882	0.533000	0.62120	AAG		0.478	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		12	49	0	0	0	1	0	12	49					C	147030017	T	C	147030017	3	2	48	1	0	0	0	0	1	0	0	0	7950	1792	62	4	1783	4	JAKMIP2	5	147030017	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	307417	147030017	33885243	1595	6063										
SPINK5	11005	broad.mit.edu	37	chr5	147491427	147491427	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtctagatgggaaaatccacGgcaacacctgctccatgtgt	10	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147491427G>T	ENST00000256084.7	+	19	1831	c.1789G>T	c.(1789-1791)Ggc>Tgc	p.G597C	SPINK5_ENST00000398454.1_Missense_Mutation_p.G597C|SPINK5_ENST00000359874.3_Missense_Mutation_p.G597C	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	597	Kazal-like 9. {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)	p.G597C(2)		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)			GAAAATCCACGGCAACACCTG	0.537																																						ENST00000359874.3																			2	Substitution - Missense(2)	p.G597C(2)	lung(2)	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.(1789-1791)Ggc>Tgc		serine peptidase inhibitor, Kazal type 5							120	120	120					5																	147491427		1985	4165	6150	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.chr5:147491427G>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.1789G>T	5.37:g.147491427G>T	ENSP00000256084:p.Gly597Cys		Somatic				SPINK5_ENST00000398454.1_Missense_Mutation_p.G597C|SPINK5_ENST00000256084.7_Missense_Mutation_p.G597C	p.G597C	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)		19	1862	+			597			Kazal-like 9.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.1789G>T	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103330	0.56183	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.04654	3.58;3.58;3.58;3.58	4.52	3.63	0.41609	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.529644	0.15819	N	0.243112	T	0.18299	0.0439	M	0.76170	2.325	0.20196	N	0.999922	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.997;0.996	T	0.02098	-1.1214	10	0.56958	D	0.05	-5.5588	9.0879	0.36592	0.1001:0.0:0.8999:0.0	.	578;597;597;597	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	C	597;597;578;597	ENSP00000381472:G597C;ENSP00000352936:G597C;ENSP00000421519:G578C;ENSP00000256084:G597C	ENSP00000256084:G597C	G	+	1	0	SPINK5	147471620	0.986000	0.35501	0.514000	0.27761	0.902000	0.53008	1.916000	0.39986	1.472000	0.48140	0.650000	0.86243	GGC		0.537	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		29	44	1	0	3.73148e-12	1	4.68978e-12	29	44					T	147491427	G	T	147491427	3	4	48	1	0	0	0	0	1	0	0	0	15077	1116	39	5	1863	5	SPINK5	5	147491427	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	461410	147491427	33423833	1596	6064										
HTR4	3360	broad.mit.edu	37	chr5	147830815	147830815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctcgagttcctgatgatgtCccctgtgcagaacggtgtac	11	11	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147830815C>T	ENST00000521530.1	-	6	1102	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000354217.2_Missense_Mutation_p.G366E	NM_001040169.2	NP_001035259.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	366					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	CTGATGATGTCCCCTGTGCAG	0.478																																					GBM(120;370 1604 14007 17804 41573)	ENST00000354217.2																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1096-1098)gGa>gAa		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						369	322	338					5																	147830815		2203	4300	6503	SO:0001583	missense	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147830815C>T	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000521530.1:c.1097G>A	5.37:g.147830815C>T	ENSP00000428320:p.Gly366Glu		Somatic				HTR4_ENST00000521530.1_Missense_Mutation_p.G366E|HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521735.1_3'UTR	p.G366E			WXS	Illumina GAIIx	Phase_I	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1260	-			0					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000521530.1	37	c.1097G>A	CCDS34270.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.005885	0.54254	.	.	ENSG00000164270	ENST00000521530;ENST00000354217	T;T	0.70045	-0.45;-0.45	5.25	5.25	0.73442	.	.	.	.	.	T	0.48095	0.1481	.	.	.	0.80722	D	1	B	0.20164	0.042	B	0.30316	0.114	T	0.39542	-0.9609	8	0.02654	T	1	.	14.234	0.65913	0.0:1.0:0.0:0.0	.	366	Q13639-2	.	E	366	ENSP00000428320:G366E;ENSP00000346156:G366E	ENSP00000346156:G366E	G	-	2	0	HTR4	147811008	1.000000	0.71417	0.999000	0.59377	0.782000	0.44232	4.720000	0.61944	2.729000	0.93468	0.650000	0.86243	GGA		0.478	HTR4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374174.3	NM_000870		54	89	0	0	0	1	0	54	89					T	147830815	C	T	147830815	3	4	48	1	0	0	0	0	1	0	0	0	7458	855	30	3	70	3	HTR4	5	147830815	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	339388	147830815	33084445	1597	6065										
HTR4	3360	broad.mit.edu	37	chr5	147863828	147863828	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagaatcatagttaccccaaGacaggcttccttgcagtcaa	8	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147863828G>T	ENST00000377888.3	-	7	1215				HTR4_ENST00000520514.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000360693.3_Silent_p.V397V|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000517929.1_Intron	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled						G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	gttaccccaagacaggcttcc	0.408																																					GBM(120;370 1604 14007 17804 41573)	ENST00000360693.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1189-1191)gtC>gtA		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						82	82	82					5																	147863828		2203	4300	6503	SO:0001627	intron_variant	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147863828G>T	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.1077-972C>A	5.37:g.147863828G>T			Somatic				HTR4_ENST00000521530.1_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000517929.1_Intron	p.V397V	NM_001040173.2	NP_001035263.1	WXS	Illumina GAIIx	Phase_I	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1329	-			359					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Silent	SNP	ENST00000377888.3	37	c.1191C>A	CCDS4291.1																																																																																				0.408	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		10	14	1	0	1.08611e-07	1	1.25818e-07	10	14					T	147863828	G	T	147863828	1	4	48	0	1	0	0	0	0	0	0	0	7458	929	33	2		2	HTR4	5	147863828	Intron	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	33013	147863828	33051432	1598	6066										
HTR4	3360	broad.mit.edu	37	chr5	147929810	147929810	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accaccttctccactgacccGaaaccctcctcagaactgaa	4	18	2	3	rs200233975		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147929810G>A	ENST00000377888.3	-	3	180	c.42C>T	c.(40-42)ttC>ttT	p.F14F	HTR4_ENST00000520514.1_Silent_p.F14F|HTR4_ENST00000521530.1_Silent_p.F14F|HTR4_ENST00000314512.6_Silent_p.F14F|HTR4_ENST00000362016.2_Silent_p.F14F|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000521735.1_Silent_p.F14F|HTR4_ENST00000360693.3_Silent_p.F14F|HTR4_ENST00000354217.2_Silent_p.F14F|HTR4_ENST00000517929.1_Silent_p.F14F	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	14					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	CCACTGACCCGAAACCCTCCT	0.493																																					GBM(120;370 1604 14007 17804 41573)	ENST00000360693.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(40-42)ttC>ttT		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	G	,,,,	0,4406		0,0,2203	124	94	104		42,42,42,42,42	0.6	1	5		104	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HTR4	NM_000870.5,NM_001040169.2,NM_001040172.2,NM_001040173.2,NM_199453.3	,,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,,	14/389,14/388,14/361,14/429,14/379	147929810	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147929810G>A	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.42C>T	5.37:g.147929810G>A			Somatic				HTR4_ENST00000521530.1_Silent_p.F14F|HTR4_ENST00000377888.3_Silent_p.F14F|HTR4_ENST00000354217.2_Silent_p.F14F|HTR4_ENST00000314512.6_Silent_p.F14F|HTR4_ENST00000362016.2_Silent_p.F14F|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000521735.1_Silent_p.F14F|HTR4_ENST00000520514.1_Silent_p.F14F|HTR4_ENST00000517929.1_Silent_p.F14F	p.F14F	NM_001040173.2	NP_001035263.1	WXS	Illumina GAIIx	Phase_I	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	180	-			14					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Silent	SNP	ENST00000377888.3	37	c.42C>T	CCDS4291.1																																																																																				0.493	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		23	54	0	0	0	1	0	23	54					A	147929810	G	A	147929810	2	1	48	1	0	0	0	0	0	0	0	1	7458	1049	37	1		1	HTR4	5	147929810	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	65982	147929810	32985450	1599	6067										
GRPEL2	134266	broad.mit.edu	37	chr5	148730559	148730559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagtgcatttctgaagaatCggagcctgaggaccaaaagc	12	8	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:148730559C>T	ENST00000329271.3	+	4	502	c.392C>T	c.(391-393)tCg>tTg	p.S131L	GRPEL2_ENST00000416916.2_Missense_Mutation_p.R104W|GRPEL2_ENST00000507562.1_3'UTR|GRPEL2-AS1_ENST00000521295.1_RNA	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	131					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	adenyl-nucleotide exchange factor activity (GO:0000774)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGAAGAATCGGAGCCTGAG	0.473																																						ENST00000329271.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(391-393)tCg>tTg		GrpE-like 2, mitochondrial (E. coli)							93	96	95					5																	148730559		2203	4300	6503	SO:0001583	missense	134266				protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity	g.chr5:148730559C>T	AL832325	CCDS4295.1	5q33.1	2008-02-05			ENSG00000164284	ENSG00000164284			21060	protein-coding gene	gene with protein product							Standard	NM_152407		Approved	DKFZp451C205, Mt-GrpE#2, FLJ23713	uc003lqj.3	Q8TAA5	OTTHUMG00000130048	ENST00000329271.3:c.392C>T	5.37:g.148730559C>T	ENSP00000329558:p.Ser131Leu		Somatic				GRPEL2_ENST00000507562.1_3'UTR|GRPEL2_ENST00000416916.2_Missense_Mutation_p.R104W|RP11-394O4.4_ENST00000521295.1_RNA	p.S131L	NM_152407.3	NP_689620.2	WXS	Illumina GAIIx	Phase_I	Q8TAA5	GRPE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	502	+			131					B4DFA6|Q49AJ6	Missense_Mutation	SNP	ENST00000329271.3	37	c.392C>T	CCDS4295.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.81|11.81	1.751155|1.751155	0.31046|0.31046	.|.	.|.	ENSG00000164284|ENSG00000164284	ENST00000416916|ENST00000329271	.|.	.|.	.|.	5.95|5.95	4.16|4.16	0.48862|0.48862	.|GrpE nucleotide exchange factor, coiled-coil (1);	.|0.479485	.|0.20383	.|N	.|0.093417	T|T	0.22898|0.22898	0.0553|0.0553	N|N	0.11560|0.11560	0.145|0.145	0.21802|0.21802	N|N	0.999537|0.999537	D|B	0.54964|0.21688	0.969|0.059	P|B	0.46975|0.16289	0.533|0.015	T|T	0.14337|0.14337	-1.0476|-1.0476	8|9	0.72032|0.28530	D|T	0.01|0.3	-14.1287|-14.1287	10.2609|10.2609	0.43425|0.43425	0.0:0.7938:0.1354:0.0708|0.0:0.7938:0.1354:0.0708	.|.	104|131	B4DFA6|Q8TAA5	.|GRPE2_HUMAN	W|L	104|131	.|.	ENSP00000397302:R104W|ENSP00000329558:S131L	R|S	+|+	1|2	2|0	GRPEL2|GRPEL2	148710752|148710752	0.174000|0.174000	0.23070|0.23070	0.992000|0.992000	0.48379|0.48379	0.313000|0.313000	0.28021|0.28021	3.358000|3.358000	0.52284|0.52284	0.835000|0.835000	0.34877|0.34877	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.473	GRPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252327.1	NM_152407		46	87	0	0	0	1	0	46	87					T	148730559	C	T	148730559	3	4	48	1	0	0	0	0	1	0	0	0	6816	893	31	1	406	1	GRPEL2	5	148730559	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	800749	148730559	32184701	1600	6068										
PDE6A	5145	broad.mit.edu	37	chr5	149264383	149264383	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgccaaactccaagtggtgtCtttccaagatagaggaccca	9	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:149264383C>A	ENST00000255266.5	-	15	2005	c.1886G>T	c.(1885-1887)aGa>aTa	p.R629I		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	629					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	CAAGTGGTGTCTTTCCAAGAT	0.502																																						ENST00000255266.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44						c.(1885-1887)aGa>aTa		phosphodiesterase 6A, cGMP-specific, rod, alpha							101	98	99					5																	149264383		2203	4300	6503	SO:0001583	missense	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149264383C>A		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1886G>T	5.37:g.149264383C>A	ENSP00000255266:p.Arg629Ile		Somatic					p.R629I	NM_000440.2	NP_000431.2	WXS	Illumina GAIIx	Phase_I	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		15	2005	-			629					Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.1886G>T	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289984	0.95546	.	.	ENSG00000132915	ENST00000255266	D	0.83591	-1.74	5.42	5.42	0.78866	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.92061	0.7484	M	0.87682	2.9	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.92959	0.6387	10	0.72032	D	0.01	.	17.0655	0.86558	0.0:1.0:0.0:0.0	.	629	P16499	PDE6A_HUMAN	I	629	ENSP00000255266:R629I	ENSP00000255266:R629I	R	-	2	0	PDE6A	149244576	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.011000	0.76359	2.705000	0.92388	0.557000	0.71058	AGA		0.502	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			19	35	1	0	1.01871e-10	1	1.25646e-10	19	35					A	149264383	C	A	149264383	3	1	48	1	0	0	0	0	1	0	0	0	11654	913	32	2	728	2	PDE6A	5	149264383	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	533824	149264383	31650877	1601	6069										
SLC26A2	1836	broad.mit.edu	37	chr5	149360083	149360083	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgatcttatcaccagcctTttgtgccttttggttctttt	7	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:149360083T>G	ENST00000286298.4	+	3	1195	c.927T>G	c.(925-927)ctT>ctG	p.L309L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	309					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)			TCACCAGCCTTTTGTGCCTTT	0.428																																						ENST00000286298.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(925-927)ctT>ctG		solute carrier family 26 (anion exchanger), member 2							129	121	123					5																	149360083		2203	4300	6503	SO:0001819	synonymous_variant	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149360083T>G	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.927T>G	5.37:g.149360083T>G			Somatic					p.L309L	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	1195	+			309					A8K2U3|B2R6J1|Q6N051	Silent	SNP	ENST00000286298.4	37	c.927T>G	CCDS4300.1																																																																																				0.428	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		11	43	0	0	0	1	0	11	43					G	149360083	T	G	149360083	2	3	48	1	0	0	0	0	0	0	0	1	14532	1828	64	4		4	SLC26A2	5	149360083	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	95700	149360083	31555177	1602	6070										
CSF1R	1436	broad.mit.edu	37	chr5	149435833	149435833	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgatgtccctagccagcccGaagtccccaatcttggccac	8	16	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:149435833G>A	ENST00000286301.3	-	18	2682	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	797	Activation loop.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Missing (in HDLS). {ECO:0000269|PubMed:22197934}.		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)	TAGCCAGCCCGAAGTCCCCAA	0.572																																						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.(2389-2391)ttC>ttT		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						149	136	140					5																	149435833		2203	4300	6503	SO:0001819	synonymous_variant	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149435833G>A	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2391C>T	5.37:g.149435833G>A			Somatic					p.F797F	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)		18	2682	-			797			Protein kinase.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Silent	SNP	ENST00000286301.3	37	c.2391C>T	CCDS4302.1																																																																																				0.572	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		35	81	0	0	0	1	0	35	81					A	149435833	G	A	149435833	2	1	48	1	0	0	0	0	0	0	0	1	3934	1049	37	1		1	CSF1R	5	149435833	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	75750	149435833	31479427	1603	6071										
RPS14	6208	broad.mit.edu	37	chr5	149826514	149826514	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcatcccaccagtcacacgGcagatggtttccctggggac	10	14	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:149826514G>A	ENST00000401695.3	-	3	208	c.162C>T	c.(160-162)tgC>tgT	p.C54C	RPS14_ENST00000407193.1_Silent_p.C54C|RPS14_ENST00000312037.5_Silent_p.C54C			P62263	RS14_HUMAN	ribosomal protein S14	54					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|mRNA metabolic process (GO:0016071)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTCACACGGCAGATGGTTT	0.522																																						ENST00000401695.3																			0				central_nervous_system(1)|lung(1)|skin(1)	3						c.(160-162)tgC>tgT		ribosomal protein S14							106	91	96					5																	149826514		2203	4300	6503	SO:0001819	synonymous_variant	6208				endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity	g.chr5:149826514G>A		CCDS4307.1	5q31-q33	2012-10-02			ENSG00000164587	ENSG00000164587		"S ribosomal proteins"	10387	protein-coding gene	gene with protein product	"emetine resistance", "40S ribosomal protein S14"	130620				3785212, 1549121	Standard	XM_006714790		Approved	EMTB, S14	uc003lsj.3	P62263	OTTHUMG00000130080	ENST00000401695.3:c.162C>T	5.37:g.149826514G>A			Somatic				RPS14_ENST00000312037.5_Silent_p.C54C|RPS14_ENST00000407193.1_Silent_p.C54C	p.C54C			WXS	Illumina GAIIx	Phase_I	P62263	RS14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	208	-		all_hematologic(541;0.224)	54					B2R5G5|D3DQG5|P06366|Q5BJI0	Silent	SNP	ENST00000401695.3	37	c.162C>T	CCDS4307.1																																																																																				0.522	RPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252373.1	NM_001025071		23	56	0	0	0	1	0	23	56					A	149826514	G	A	149826514	2	1	48	1	0	0	0	0	0	0	0	1	13639	1195	42	3		3	RPS14	5	149826514	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	390681	149826514	31088746	1604	6072										
SYNPO	11346	broad.mit.edu	37	chr5	150028210	150028210	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctcagaggcccaactcccaTctaatggcacagggcctgct	9	16	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150028210T>C	ENST00000394243.1	+	3	1479	c.1105T>C	c.(1105-1107)Tct>Cct	p.S369P	SYNPO_ENST00000307662.4_Missense_Mutation_p.S125P|SYNPO_ENST00000522122.1_Missense_Mutation_p.S369P|SYNPO_ENST00000519664.1_Missense_Mutation_p.S125P|SYNPO_ENST00000518872.1_3'UTR	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	369					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)			CCAACTCCCATCTAATGGCAC	0.572																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(1105-1107)Tct>Cct		synaptopodin							128	123	125					5																	150028210		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.chr5:150028210T>C	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1105T>C	5.37:g.150028210T>C	ENSP00000377789:p.Ser369Pro		Somatic				SYNPO_ENST00000522122.1_Missense_Mutation_p.S369P|SYNPO_ENST00000307662.4_Missense_Mutation_p.S125P|SYNPO_ENST00000518872.1_3'UTR|SYNPO_ENST00000519664.1_Missense_Mutation_p.S125P	p.S369P	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	1479	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	369					A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.1105T>C	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.456750	0.01071	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.21932	1.98;1.98;1.99	5.19	-1.54	0.08584	.	0.858328	0.10054	N	0.721806	T	0.05686	0.0149	N	0.02247	-0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.39057	-0.9632	10	0.02654	T	1	-0.0153	5.6278	0.17492	0.0:0.3204:0.4107:0.2689	.	125;369	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	P	369;369;125;125	ENSP00000377789:S369P;ENSP00000428378:S369P;ENSP00000429268:S125P	ENSP00000302139:S125P	S	+	1	0	SYNPO	150008403	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.118000	0.03280	-0.398000	0.07679	-1.235000	0.01560	TCT		0.572	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		29	190	0	0	0	1	0	29	190					C	150028210	T	C	150028210	3	2	48	1	0	0	0	0	1	0	0	0	15471	1435	50	4	1111	4	SYNPO	5	150028210	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	201696	150028210	30887050	1605	6073										
DCTN4	51164	broad.mit.edu	37	chr5	150099289	150099289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtactaaccttcatgtagcGaaggttgggaattgacatga	12	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150099289G>A	ENST00000447998.2	-	10	1067	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	DCTN4_ENST00000446090.2_Missense_Mutation_p.R325C|DCTN4_ENST00000424236.1_Missense_Mutation_p.R261C	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	318					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATGTAGCGAAGGTTGGGA	0.348																																						ENST00000447998.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.(952-954)Cgc>Tgc		dynactin 4 (p62)							111	106	107					5																	150099289		2203	4300	6503	SO:0001583	missense	51164					centrosome|nucleus	protein N-terminus binding	g.chr5:150099289G>A	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.952C>T	5.37:g.150099289G>A	ENSP00000416968:p.Arg318Cys		Somatic				DCTN4_ENST00000424236.1_Missense_Mutation_p.R261C|DCTN4_ENST00000446090.2_Missense_Mutation_p.R325C	p.R318C	NM_016221.3	NP_057305.1	WXS	Illumina GAIIx	Phase_I	Q9UJW0	DCTN4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1067	-		Medulloblastoma(196;0.167)	318					B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Missense_Mutation	SNP	ENST00000447998.2	37	c.952C>T	CCDS4310.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887910	0.91814	.	.	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090	T;T;T	0.23754	1.89;1.89;1.89	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.87578	0.764;0.998	T	0.37197	-0.9716	10	0.62326	D	0.03	-11.1489	20.0333	0.97547	0.0:0.0:1.0:0.0	.	325;318	Q9UJW0-3;Q9UJW0	.;DCTN4_HUMAN	C	318;261;325	ENSP00000416968:R318C;ENSP00000411251:R261C;ENSP00000414906:R325C	ENSP00000411251:R261C	R	-	1	0	DCTN4	150079482	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.101000	0.94219	2.810000	0.96702	0.585000	0.79938	CGC		0.348	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1			12	19	0	0	0	1	0	12	19					A	150099289	G	A	150099289	3	1	48	1	0	0	0	0	1	0	0	0	4311	1058	37	1	446	1	DCTN4	5	150099289	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	71079	150099289	30815971	1606	6074										
ZNF300	91975	broad.mit.edu	37	chr5	150278113	150278113	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacatccttgaatgatactaAcccctgtaatagtaaattcc	4	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150278113A>G	ENST00000274599.5	-	4	439	c.19T>C	c.(19-21)Tta>Cta	p.L7L	ZNF300_ENST00000418587.2_5'UTR|ZNF300_ENST00000446148.2_Silent_p.L23L|ZNF300_ENST00000427179.1_Silent_p.L7L|ZNF300_ENST00000394226.2_Silent_p.L7L	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	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)|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)			AATGATACTAACCCCTGTAAT	0.418																																						ENST00000427179.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(19-21)Tta>Cta		zinc finger protein 300							95	100	98					5																	150278113		2203	4299	6502	SO:0001819	synonymous_variant	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150278113A>G	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.19T>C	5.37:g.150278113A>G			Somatic				ZNF300_ENST00000418587.2_5'UTR|ZNF300_ENST00000446148.2_Silent_p.L23L|ZNF300_ENST00000394226.2_Silent_p.L7L|ZNF300_ENST00000274599.5_Silent_p.L7L	p.L7L			WXS	Illumina GAIIx	Phase_I	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	245	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	7					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Silent	SNP	ENST00000274599.5	37	c.19T>C	CCDS4311.2																																																																																				0.418	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		17	91	0	0	0	1	0	17	91					G	150278113	A	G	150278113	2	3	48	1	0	0	0	0	0	0	0	1	17846	40	2	4		4	ZNF300	5	150278113	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	178824	150278113	30637147	1607	6075										
SLC36A2	153201	broad.mit.edu	37	chr5	150696383	150696383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagcagtgccaggctcaccGaacaaaagtggtggagttgg	16	8	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150696383G>A	ENST00000335244.4	-	10	1576	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W	SLC36A2_ENST00000450886.1_Missense_Mutation_p.R207W	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	483					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	CAGGCTCACCGAACAAAAGTG	0.483																																						ENST00000335244.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(1447-1449)Cgg>Tgg		solute carrier family 36 (proton/amino acid symporter), member 2							69	78	75					5																	150696383		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150696383G>A	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1447C>T	5.37:g.150696383G>A	ENSP00000334223:p.Arg483Trp		Somatic				SLC36A2_ENST00000450886.1_Missense_Mutation_p.R207W	p.R483W	NM_181776.2	NP_861441.2	WXS	Illumina GAIIx	Phase_I	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1576	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	483					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.1447C>T	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962243	0.53400	.	.	ENSG00000186335	ENST00000335244;ENST00000450886	T;T	0.10477	3.66;2.87	4.92	4.05	0.47172	.	0.762389	0.12203	N	0.490038	T	0.06462	0.0166	N	0.08118	0	0.22317	N	0.999202	P	0.46277	0.875	B	0.37508	0.252	T	0.27365	-1.0076	10	0.72032	D	0.01	-14.8723	13.3961	0.60853	0.0767:0.0:0.9233:0.0	.	483	Q495M3	S36A2_HUMAN	W	483;207	ENSP00000334223:R483W;ENSP00000399479:R207W	ENSP00000334223:R483W	R	-	1	2	SLC36A2	150676576	0.479000	0.25925	0.123000	0.21794	0.087000	0.18053	2.335000	0.43929	1.440000	0.47531	0.650000	0.86243	CGG		0.483	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			21	57	0	0	0	1	0	21	57					A	150696383	G	A	150696383	3	1	48	1	0	0	0	0	1	0	0	0	14609	1057	37	1	8	1	SLC36A2	5	150696383	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	418270	150696383	30218877	1608	6076										
SLC36A1	206358	broad.mit.edu	37	chr5	150858923	150858923	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtactccatcgggatcttTttcacctacgcactccagtt	6	14	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150858923T>G	ENST00000243389.3	+	10	1255	c.1032T>G	c.(1030-1032)ttT>ttG	p.F344L	SLC36A1_ENST00000521925.1_Missense_Mutation_p.F344L|RNA5SP197_ENST00000363357.1_RNA|SLC36A1_ENST00000520701.1_Missense_Mutation_p.F344L	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	344					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	TCGGGATCTTTTTCACCTACG	0.522																																					Melanoma(151;1534 1860 12947 32979 37872)	ENST00000243389.3																			0				endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25						c.(1030-1032)ttT>ttG		solute carrier family 36 (proton/amino acid symporter), member 1	Glycine(DB00145)|L-Alanine(DB00160)						217	186	197					5																	150858923		2203	4300	6503	SO:0001583	missense	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150858923T>G	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"Solute carriers"	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.1032T>G	5.37:g.150858923T>G	ENSP00000243389:p.Phe344Leu		Somatic				SLC36A1_ENST00000520701.1_Missense_Mutation_p.F344L|SLC36A1_ENST00000521925.1_Missense_Mutation_p.F344L	p.F344L	NM_078483.2	NP_510968.2	WXS	Illumina GAIIx	Phase_I	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1255	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	344					C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	c.1032T>G	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.464572	0.84425	.	.	ENSG00000123643	ENST00000520701;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517628	T;T;T;T	0.01787	4.64;4.64;4.64;4.64	5.77	3.39	0.38822	.	0.095667	0.64402	D	0.000001	T	0.02610	0.0079	N	0.25890	0.77	0.47778	D	0.999512	B;B	0.31581	0.329;0.175	B;B	0.42851	0.4;0.162	T	0.61710	-0.7007	10	0.41790	T	0.15	.	11.1938	0.48700	0.0:0.8031:0.0:0.1969	.	344;344	E7EW39;Q7Z2H8	.;S36A1_HUMAN	L	344;344;344;344;103	ENSP00000428140:F344L;ENSP00000243389:F344L;ENSP00000430305:F344L;ENSP00000428738:F103L	ENSP00000243389:F344L	F	+	3	2	SLC36A1	150839116	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.440000	0.44855	1.229000	0.43630	0.459000	0.35465	TTT		0.522	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		23	58	0	0	0	1	0	23	58					G	150858923	T	G	150858923	3	3	48	1	0	0	0	0	1	0	0	0	14608	1838	64	4	1066	4	SLC36A1	5	150858923	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	162540	150858923	30056337	1609	6077										
FAT2	2196	broad.mit.edu	37	chr5	150942953	150942953	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgttgaaggtcagcttcccTttggagctggagtctgggtc	14	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150942953T>G	ENST00000261800.5	-	2	3519	c.3507A>C	c.(3505-3507)aaA>aaC	p.K1169N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1169	Cadherin 10. {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)			TCAGCTTCCCTTTGGAGCTGG	0.527																																						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.(3505-3507)aaA>aaC		FAT atypical cadherin 2							109	107	108					5																	150942953		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.chr5:150942953T>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3507A>C	5.37:g.150942953T>G	ENSP00000261800:p.Lys1169Asn		Somatic					p.K1169N	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)		2	3519	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1169			Cadherin 10.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.3507A>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	0.213	-1.035119	0.02029	.	.	ENSG00000086570	ENST00000261800	T	0.37411	1.2	5.03	-3.97	0.04094	Cadherin (4);Cadherin-like (1);	0.940200	0.08931	N	0.873014	T	0.04407	0.0121	N	0.00043	-2.47	0.21290	N	0.999735	B	0.09022	0.002	B	0.12156	0.007	T	0.30650	-0.9971	10	0.02654	T	1	.	2.8509	0.05558	0.1114:0.3723:0.2282:0.2881	.	1169	Q9NYQ8	FAT2_HUMAN	N	1169	ENSP00000261800:K1169N	ENSP00000261800:K1169N	K	-	3	2	FAT2	150923146	0.000000	0.05858	0.014000	0.15608	0.839000	0.47603	-1.462000	0.02364	-0.896000	0.03915	0.459000	0.35465	AAA		0.527	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		5	71	0	0	0	1	0	5	71					G	150942953	T	G	150942953	3	3	48	1	0	0	0	0	1	0	0	0	5698	1606	56	4	9630	4	FAT2	5	150942953	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	84030	150942953	29972307	1610	6078										
SPARC	6678	broad.mit.edu	37	chr5	151052738	151052738	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctgcaccatcatcaaattCtcctacttccacctggacag	4	16	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:151052738C>A	ENST00000231061.4	-	4	473	c.160G>T	c.(160-162)Gaa>Taa	p.E54*		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	54	Asp/Glu-rich (acidic; binds calcium).				blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		TCATCAAATTCTCCTACTTCC	0.537																																						ENST00000231061.4																			0				central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(160-162)Gaa>Taa		secreted protein, acidic, cysteine-rich (osteonectin)	Becaplermin(DB00102)						216	188	198					5																	151052738		2203	4300	6503	SO:0001587	stop_gained	6678				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	g.chr5:151052738C>A		CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"cysteine-rich protein", "osteonectin"	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.160G>T	5.37:g.151052738C>A	ENSP00000231061:p.Glu54*		Somatic					p.E54*	NM_003118.3	NP_003109.1	WXS	Illumina GAIIx	Phase_I	P09486	SPRC_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	4	473	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	54			Asp/Glu-rich (acidic; binds calcium).		D3DQH9|Q6IBK4	Nonsense_Mutation	SNP	ENST00000231061.4	37	c.160G>T	CCDS4318.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768144	0.69878	.	.	ENSG00000113140	ENST00000231061;ENST00000539687	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-17.3969	18.5563	0.91086	0.0:1.0:0.0:0.0	.	.	.	.	X	54	.	ENSP00000231061:E54X	E	-	1	0	SPARC	151032931	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	6.682000	0.74528	2.375000	0.81037	0.561000	0.74099	GAA		0.537	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118		15	96	1	0	3.27435e-08	1	3.83577e-08	15	96					A	151052738	C	A	151052738	4	1	48	1	0	0	0	0	0	1	0	0	15010	922	32	2	779	2	SPARC	5	151052738	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	109785	151052738	29862522	1611	6079										
GLRA1	2741	broad.mit.edu	37	chr5	151202492	151202492	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggcccatcccataggcagaGaagttaaagcggccttctcc	11	13	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:151202492G>T	ENST00000455880.2	-	9	1402	c.1116C>A	c.(1114-1116)ttC>ttA	p.F372L	GLRA1_ENST00000274576.4_Missense_Mutation_p.F364L|GLRA1_ENST00000545569.1_Missense_Mutation_p.F281L			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	372					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATAGGCAGAGAAGTTAAAGC	0.547																																						ENST00000274576.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(1090-1092)ttC>ttA		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						75	71	72					5																	151202492		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151202492G>T		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.1116C>A	5.37:g.151202492G>T	ENSP00000411593:p.Phe372Leu		Somatic				GLRA1_ENST00000545569.1_Missense_Mutation_p.F281L|GLRA1_ENST00000455880.2_Missense_Mutation_p.F372L	p.F364L	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	WXS	Illumina GAIIx	Phase_I	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		9	1384	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	372					B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.1092C>A	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945071	0.34283	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.85258	-1.96;-1.72;-1.96	4.77	2.98	0.34508	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	L	0.45352	1.415	0.50313	D	0.999867	B;B;B	0.23540	0.087;0.058;0.032	B;B;B	0.32762	0.152;0.152;0.029	T	0.63028	-0.6728	10	0.10636	T	0.68	.	8.26	0.31779	0.2418:0.0:0.7582:0.0	.	372;281;364	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	L	364;372;281	ENSP00000274576:F364L;ENSP00000411593:F372L;ENSP00000445913:F281L	ENSP00000274576:F364L	F	-	3	2	GLRA1	151182685	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.205000	0.51090	0.432000	0.26286	0.313000	0.20887	TTC		0.547	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			18	40	1	0	5.03518e-11	1	6.23768e-11	18	40					T	151202492	G	T	151202492	3	4	48	1	0	0	0	0	1	0	0	0	6462	933	33	2	261	2	GLRA1	5	151202492	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	149754	151202492	29712768	1612	6080										
LARP1	23367	broad.mit.edu	37	chr5	154179268	154179268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacagactgatttctcccagCttctcaactgccctgaattt	5	14	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154179268C>T	ENST00000336314.4	+	9	1288	c.1264C>T	c.(1264-1266)Ctt>Ttt	p.L422F		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	499	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				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)			TTTCTCCCAGCTTCTCAACTG	0.507																																						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.(1264-1266)Ctt>Ttt		La ribonucleoprotein domain family, member 1							162	158	159					5																	154179268		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154179268C>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1264C>T	5.37:g.154179268C>T	ENSP00000336721:p.Leu422Phe		Somatic					p.L422F	NM_015315.3	NP_056130.2	WXS	Illumina GAIIx	Phase_I	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		9	1288	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	499			HTH La-type RNA-binding.		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.1264C>T	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946948	0.53186	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000523163;ENST00000518742	T;T;T;T;T	0.51817	1.79;1.32;1.34;0.8;0.69	5.95	5.95	0.96441	.	0.116239	0.64402	D	0.000011	T	0.41949	0.1181	L	0.34521	1.04	0.48901	D	0.999724	B;B	0.27286	0.125;0.174	B;B	0.36244	0.037;0.22	T	0.19976	-1.0289	10	0.22109	T	0.4	-14.9269	13.987	0.64341	0.0:0.9227:0.0:0.0773	.	499;422	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	F	422;499;294;207;106	ENSP00000336721:L422F;ENSP00000428589:L499F;ENSP00000429904:L294F;ENSP00000430438:L207F;ENSP00000431072:L106F	ENSP00000336721:L422F	L	+	1	0	LARP1	154159461	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.896000	0.63222	2.824000	0.97209	0.655000	0.94253	CTT		0.507	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		35	88	0	0	0	1	0	35	88					T	154179268	C	T	154179268	3	4	48	1	0	0	0	0	1	0	0	0	8637	797	28	3	1298	3	LARP1	5	154179268	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2976776	154179268	26735992	1613	6081										
LARP1	23367	broad.mit.edu	37	chr5	154183841	154183841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgggtgatggattcccgtgaGcacaggccccgtactgcttc	13	12	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154183841G>T	ENST00000336314.4	+	14	2313	c.2289G>T	c.(2287-2289)gaG>gaT	p.E763D		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	840					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)			ATTCCCGTGAGCACAGGCCCC	0.567																																						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.(2287-2289)gaG>gaT		La ribonucleoprotein domain family, member 1							124	120	122					5																	154183841		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154183841G>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2289G>T	5.37:g.154183841G>T	ENSP00000336721:p.Glu763Asp		Somatic					p.E763D	NM_015315.3	NP_056130.2	WXS	Illumina GAIIx	Phase_I	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		14	2313	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	840					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.2289G>T	CCDS4328.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.65|16.65|16.65	3.181815|3.181815|3.181815	0.57800|0.57800|0.57800	.|.|.	.|.|.	ENSG00000155506|ENSG00000155506|ENSG00000155506	ENST00000522272|ENST00000336314|ENST00000518677	.|T|.	.|0.25912|.	.|1.77|.	6.17|6.17|6.17	3.11|3.11|3.11	0.35812|0.35812|0.35812	.|.|.	.|0.090794|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.48466|0.48466|0.48466	0.1501|0.1501|0.1501	L|L|L	0.27944|0.27944|0.27944	0.81|0.81|0.81	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|B;B|.	.|0.27765|.	.|0.188;0.038|.	.|B;B|.	.|0.27500|.	.|0.062;0.08|.	T|T|T	0.31052|0.31052|0.31052	-0.9957|-0.9957|-0.9957	5|10|5	.|0.21540|.	.|T|.	.|0.41|.	-20.0473|-20.0473|-20.0473	10.7352|10.7352|10.7352	0.46120|0.46120|0.46120	0.2298:0.0:0.7702:0.0|0.2298:0.0:0.7702:0.0|0.2298:0.0:0.7702:0.0	.|.|.	.|840;763|.	.|Q6PKG0;Q6PKG0-3|.	.|LARP1_HUMAN;.|.	S|D|I	21|763|154	.|ENSP00000336721:E763D|.	.|ENSP00000336721:E763D|.	A|E|S	+|+|+	1|3|2	0|2|0	LARP1|LARP1|LARP1	154164034|154164034|154164034	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.868000|0.868000|0.868000	0.49771|0.49771|0.49771	2.440000|2.440000|2.440000	0.44855|0.44855|0.44855	0.746000|0.746000|0.746000	0.32786|0.32786|0.32786	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|GAG|AGC		0.567	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		38	75	1	0	1.56738e-10	1	1.93275e-10	38	75					T	154183841	G	T	154183841	3	4	48	1	0	0	0	0	1	0	0	0	8637	962	34	5	2343	5	LARP1	5	154183841	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4573	154183841	26731419	1614	6082										
C5orf4	10826	broad.mit.edu	37	chr5	154203091	154203091	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaagaccaccatggggaaaGatatcatgcactggttgaaa	12	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154203091G>T	ENST00000326080.5	-	6	851	c.428C>A	c.(427-429)tCt>tAt	p.S143Y	FAXDC2_ENST00000523997.1_5'Flank|FAXDC2_ENST00000517938.1_Missense_Mutation_p.S120Y	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	143					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)										CATGGGGAAAGATATCATGCA	0.557																																						ENST00000326080.5																			0											c.(427-429)tCt>tAt		fatty acid hydroxylase domain containing 2							117	119	119					5																	154203091		1994	4161	6155	SO:0001583	missense	10826							g.chr5:154203091G>T	AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"Fatty acid hydroxylase domain containing"	1334	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 4"	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.428C>A	5.37:g.154203091G>T	ENSP00000320604:p.Ser143Tyr		Somatic				FAXDC2_ENST00000517938.1_Missense_Mutation_p.S120Y	p.S143Y	NM_032385.3	NP_115761.2	WXS	Illumina GAIIx	Phase_I					6	851	-								B4DIE1|Q9BSX6|Q9H8C7	Missense_Mutation	SNP	ENST00000326080.5	37	c.428C>A	CCDS43390.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052392	0.75960	.	.	ENSG00000170271	ENST00000326080;ENST00000517938;ENST00000519501	T;T;T	0.71341	-0.56;-0.54;0.82	4.77	4.77	0.60923	.	0.052144	0.85682	D	0.000000	T	0.76572	0.4006	M	0.81682	2.555	0.80722	D	1	P	0.42649	0.786	B	0.44163	0.443	T	0.81435	-0.0934	10	0.62326	D	0.03	.	16.7832	0.85567	0.0:0.0:1.0:0.0	.	143	Q96IV6	CE004_HUMAN	Y	143;120;120	ENSP00000320604:S143Y;ENSP00000430286:S120Y;ENSP00000429837:S120Y	ENSP00000320604:S143Y	S	-	2	0	C5orf4	154183284	1.000000	0.71417	0.039000	0.18376	0.505000	0.33919	9.076000	0.94009	2.190000	0.69967	0.561000	0.74099	TCT		0.557	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385		28	64	1	0	1.12875e-08	1	1.33677e-08	28	64					T	154203091	G	T	154203091	3	4	48	1	0	0	0	0	1	0	0	0	2300	942	33	2	589	2	C5orf4	5	154203091	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	19250	154203091	26712169	1615	6083										
KIF4B	285643	broad.mit.edu	37	chr5	154394020	154394020	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaacaactctaggactgtgGcctccacagctatgaactcc	8	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154394020G>A	ENST00000435029.4	+	1	761	c.601G>A	c.(601-603)Gcc>Acc	p.A201T		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	201	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)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGGACTGTGGCCTCCACAGC	0.458																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(601-603)Gcc>Acc		kinesin family member 4B							151	142	145					5																	154394020		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154394020G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.601G>A	5.37:g.154394020G>A	ENSP00000387875:p.Ala201Thr		Somatic					p.A201T	NM_001099293.1	NP_001092763.1	WXS	Illumina GAIIx	Phase_I	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	761	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	201			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.601G>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	15.80	2.940504	0.52972	.	.	ENSG00000226650	ENST00000435029	T	0.74632	-0.86	1.61	0.684	0.18003	Kinesin, motor domain (4);	.	.	.	.	D	0.82628	0.5078	M	0.90425	3.115	0.40741	D	0.98283	P	0.41947	0.766	P	0.54100	0.742	T	0.80961	-0.1148	9	0.87932	D	0	.	5.7429	0.18104	0.1978:0.0:0.8022:0.0	.	201	Q2VIQ3	KIF4B_HUMAN	T	201	ENSP00000387875:A201T	ENSP00000387875:A201T	A	+	1	0	KIF4B	154374213	1.000000	0.71417	0.992000	0.48379	0.942000	0.58702	4.915000	0.63355	0.243000	0.21327	0.563000	0.77884	GCC		0.458	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			11	100	0	0	0	1	0	11	100					A	154394020	G	A	154394020	3	1	48	1	0	0	0	0	1	0	0	0	8313	1203	42	3	603	3	KIF4B	5	154394020	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	190929	154394020	26521240	1616	6084										
KIF4B	285643	broad.mit.edu	37	chr5	154396021	154396021	+	Frame_Shift_Del	DEL	A	A	-													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggaagccaagtgtgccctgAaatatttgattggagagctg							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154396021delA	ENST00000435029.4	+	1	2762	c.2602delA	c.(2602-2604)aaafs	p.K868fs		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	868	Interaction with PRC1. {ECO:0000250}.				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)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTGTGCCCTGAAATATTTGAT	0.473																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2602-2604)aafs		kinesin family member 4B							76	76	76					5																	154396021		2203	4300	6503	SO:0001589	frameshift_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154396021delA	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2602delA	5.37:g.154396021delA	ENSP00000387875:p.Lys868fs		Somatic					p.K868fs	NM_001099293.1	NP_001092763.1	WXS	Illumina GAIIx	Phase_I	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2762	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	868			Interaction with PRC1 (By similarity).			Frame_Shift_Del	DEL	ENST00000435029.4	37	c.2602delA	CCDS47324.1																																																																																				0.473	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			25	49						25	49	---	---	---	---	-	154396021	A	-	154396021	7	5	48	1	0	1	0	1	0	0	0	0	8313	247	9	0	2604	0	KIF4B	5	154396021	Frame_Shift_Del	DEL	A	TCGA-ND-A4WC-01A-21D-A28R-08	2001	154396021	26519239	1617	6085										
FAM71B	153745	broad.mit.edu	37	chr5	156593022	156593022	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctctccctttttgtttatcTgaataaaattactctcgaac	3	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:156593022T>G	ENST00000302938.4	-	1	253	c.158A>C	c.(157-159)cAg>cCg	p.Q53P		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	53						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)			TTTGTTTATCTGAATAAAATT	0.478																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(157-159)cAg>cCg		family with sequence similarity 71, member B							137	133	134					5																	156593022		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156593022T>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.158A>C	5.37:g.156593022T>G	ENSP00000305596:p.Gln53Pro		Somatic					p.Q53P	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)		1	253	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	53					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.158A>C	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.055972	0.36277	.	.	ENSG00000170613	ENST00000302938	T	0.32753	1.44	4.66	4.66	0.58398	.	0.118445	0.38005	N	0.001846	T	0.60405	0.2266	M	0.90814	3.15	0.40144	D	0.976868	D	0.89917	1.0	D	0.91635	0.999	T	0.69355	-0.5167	10	0.87932	D	0	-23.3706	11.0625	0.47955	0.0:0.0:0.0:1.0	.	53	Q8TC56	FA71B_HUMAN	P	53	ENSP00000305596:Q53P	ENSP00000305596:Q53P	Q	-	2	0	FAM71B	156525600	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	4.096000	0.57734	2.033000	0.60031	0.455000	0.32223	CAG		0.478	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		7	78	0	0	0	1	0	7	78					G	156593022	T	G	156593022	3	3	48	1	0	0	0	0	1	0	0	0	5616	1580	55	4	1667	4	FAM71B	5	156593022	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2197001	156593022	24322238	1618	6086										
ITK	3702	broad.mit.edu	37	chr5	156635937	156635937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggggtccattgagctctcccGaatcaaatgtgttgagattg	12	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:156635937G>A	ENST00000422843.3	+	2	328	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	59	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)	p.R59Q(1)		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)	GAGCTCTCCCGAATCAAATGT	0.458			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		1	Substitution - Missense(1)	p.R59Q(1)	large_intestine(1)	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.(175-177)cGa>cAa		IL2-inducible T-cell kinase							122	109	114					5																	156635937		2203	4300	6503	SO:0001583	missense	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156635937G>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.176G>A	5.37:g.156635937G>A	ENSP00000398655:p.Arg59Gln		Somatic				CTB-4E7.1_ENST00000519375.1_RNA	p.R59Q	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)		2	328	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	59			PH.		B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	c.176G>A	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434269	0.83776	.	.	ENSG00000113263	ENST00000422843	T	0.74947	-0.89	5.31	5.31	0.75309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.187688	0.44483	D	0.000452	T	0.70710	0.3255	L	0.43152	1.355	0.28451	N	0.916353	D	0.57571	0.98	P	0.46940	0.532	T	0.70454	-0.4867	10	0.66056	D	0.02	.	11.9447	0.52922	0.0844:0.0:0.9156:0.0	.	59	Q08881	ITK_HUMAN	Q	59	ENSP00000398655:R59Q	ENSP00000398655:R59Q	R	+	2	0	ITK	156568515	1.000000	0.71417	0.993000	0.49108	0.870000	0.49936	4.997000	0.63921	2.458000	0.83093	0.561000	0.74099	CGA		0.458	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			7	18	0	0	0	1	0	7	18					A	156635937	G	A	156635937	3	1	48	1	0	0	0	0	1	0	0	0	7918	1058	37	1	182	1	ITK	5	156635937	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	42915	156635937	24279323	1619	6087										
CYFIP2	26999	broad.mit.edu	37	chr5	156757772	156757772	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctgttggataaacgttttCgagctgagtgtaagaattat	10	5	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:156757772C>T	ENST00000521420.1	+	19	2192	c.2101C>T	c.(2101-2103)Cga>Tga	p.R701*	CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.R652*|CYFIP2_ENST00000442283.2_Nonsense_Mutation_p.R12*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.R531*|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.R752*|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.R426*|CYFIP2_ENST00000347377.6_Nonsense_Mutation_p.R727*|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.R727*					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)			TAAACGTTTTCGAGCTGAGTG	0.448																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(2179-2181)Cga>Tga		cytoplasmic FMR1 interacting protein 2							169	153	158					5																	156757772		1960	4171	6131	SO:0001587	stop_gained	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156757772C>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.2101C>T	5.37:g.156757772C>T	ENSP00000430904:p.Arg701*		Somatic				CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.R652*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.R531*|CYFIP2_ENST00000521420.1_Nonsense_Mutation_p.R701*|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.R752*|CYFIP2_ENST00000442283.2_Nonsense_Mutation_p.R12*|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.R426*|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.R727*	p.R727*	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)		20	2610	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	752						Nonsense_Mutation	SNP	ENST00000521420.1	37	c.2179C>T		.	.	.	.	.	.	.	.	.	.	C	41	8.996161	0.99029	.	.	ENSG00000055163	ENST00000318218;ENST00000442283;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	.	.	.	5.37	-2.5	0.06384	.	0.050995	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7251	19.9323	0.97124	0.1858:0.8142:0.0:0.0	.	.	.	.	X	752;12;531;701;727;727;652;426	.	ENSP00000325817:R752X	R	+	1	2	CYFIP2	156690350	0.998000	0.40836	0.809000	0.32408	0.975000	0.68041	1.586000	0.36611	-0.314000	0.08716	-0.274000	0.10170	CGA		0.448	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		10	27	0	0	0	1	0	10	27					T	156757772	C	T	156757772	4	4	48	1	0	0	0	0	0	1	0	0	4140	876	31	1	2253	1	CYFIP2	5	156757772	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	121835	156757772	24157488	1620	6088										
CYFIP2	26999	broad.mit.edu	37	chr5	156816422	156816422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcatccctgtgggaaccaacGagttcacagctgagtgagta	12	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:156816422G>A	ENST00000521420.1	+	28	3446	c.3355G>A	c.(3355-3357)Gag>Aag	p.E1119K	CYFIP2_ENST00000318218.6_Missense_Mutation_p.E1170K|CYFIP2_ENST00000377576.3_Missense_Mutation_p.E1145K|CYFIP2_ENST00000435847.2_Missense_Mutation_p.E844K|CYFIP2_ENST00000522463.1_Missense_Mutation_p.E949K|CYFIP2_ENST00000347377.6_Missense_Mutation_p.E1145K|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E1070K					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)			GGGAACCAACGAGTTCACAGC	0.597																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(3433-3435)Gag>Aag		cytoplasmic FMR1 interacting protein 2							44	50	48					5																	156816422		2133	4256	6389	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156816422G>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.3355G>A	5.37:g.156816422G>A	ENSP00000430904:p.Glu1119Lys		Somatic				CYFIP2_ENST00000522463.1_Missense_Mutation_p.E949K|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E1070K|CYFIP2_ENST00000435847.2_Missense_Mutation_p.E844K|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E1170K|CYFIP2_ENST00000377576.3_Missense_Mutation_p.E1145K|CYFIP2_ENST00000521420.1_Missense_Mutation_p.E1119K	p.E1145K	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)		29	3864	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	1170						Missense_Mutation	SNP	ENST00000521420.1	37	c.3433G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.493941	0.96339	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.60996	0.2312	M	0.86178	2.8	0.80722	D	1	P;D;D;D;D;P	0.89917	0.949;0.994;1.0;0.962;0.97;0.911	B;P;D;B;P;P	0.79784	0.362;0.846;0.993;0.297;0.637;0.899	T	0.64850	-0.6310	10	0.44086	T	0.13	-28.3827	18.5245	0.90967	0.0:0.0:1.0:0.0	.	1009;949;1119;1145;1145;1170	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	K	1170;949;1119;1145;1145;1070;844	ENSP00000325817:E1170K;ENSP00000428009:E949K;ENSP00000430904:E1119K;ENSP00000313567:E1145K;ENSP00000366799:E1145K;ENSP00000444645:E1070K;ENSP00000403793:E844K	ENSP00000325817:E1170K	E	+	1	0	CYFIP2	156749000	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.563000	0.98148	2.434000	0.82447	0.655000	0.94253	GAG		0.597	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		15	21	0	0	0	1	0	15	21					A	156816422	G	A	156816422	3	1	48	1	0	0	0	0	1	0	0	0	4140	1059	37	1	3543	1	CYFIP2	5	156816422	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	58650	156816422	24098838	1621	6089										
SOX30	11063	broad.mit.edu	37	chr5	157053528	157053528	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctatgactgttatagtaagaAgttccattcatgttctcaca	6	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:157053528A>G	ENST00000265007.6	-	5	2423	c.2082T>C	c.(2080-2082)acT>acC	p.T694T	SOX30_ENST00000519442.1_Silent_p.T389T|SOX30_ENST00000311371.5_3'UTR	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	694					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TATAGTAAGAAGTTCCATTCA	0.408																																					Esophageal Squamous(31;525 799 19355 21125 41744)	ENST00000265007.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(2080-2082)acT>acC		SRY (sex determining region Y)-box 30							129	108	115					5																	157053528		2203	4300	6503	SO:0001819	synonymous_variant	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157053528A>G	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.2082T>C	5.37:g.157053528A>G			Somatic				SOX30_ENST00000311371.5_3'UTR|SOX30_ENST00000519442.1_Silent_p.T389T	p.T694T	NM_178424.1	NP_848511.1	WXS	Illumina GAIIx	Phase_I	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		5	2423	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	694					O94995|Q8IYX6	Silent	SNP	ENST00000265007.6	37	c.2082T>C	CCDS4339.1																																																																																				0.408	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		11	25	0	0	0	1	0	11	25					G	157053528	A	G	157053528	2	3	48	1	0	0	0	0	0	0	0	1	14967	59	3	4		4	SOX30	5	157053528	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	237106	157053528	23861732	1622	6090										
LSM11	134353	broad.mit.edu	37	chr5	157178487	157178487	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccgcactttcaagggacttCggggcgtctgtacaggcttc	12	12	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:157178487C>T	ENST00000286307.5	+	2	594	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	180	SM 1.				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)	p.R180W(1)		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)			CAAGGGACTTCGGGGCGTCTG	0.498																																						ENST00000286307.5																			1	Substitution - Missense(1)	p.R180W(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(538-540)Cgg>Tgg		LSM11, U7 small nuclear RNA associated							137	132	134					5																	157178487		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.chr5:157178487C>T	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.538C>T	5.37:g.157178487C>T	ENSP00000286307:p.Arg180Trp		Somatic					p.R180W	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)		2	594	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	180			SM 1.		A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	ENST00000286307.5	37	c.538C>T	CCDS4342.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756550	0.89843	.	.	ENSG00000155858	ENST00000286307	.	.	.	5.87	5.87	0.94306	Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.000000	0.85682	D	0.000000	D	0.84511	0.5488	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85183	0.1005	9	0.87932	D	0	-12.0939	20.5827	0.99408	0.0:1.0:0.0:0.0	.	180	P83369	LSM11_HUMAN	W	180	.	ENSP00000286307:R180W	R	+	1	2	LSM11	157111065	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	4.794000	0.62482	2.941000	0.99782	0.655000	0.94253	CGG		0.498	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	NM_173491		24	57	0	0	0	1	0	24	57					T	157178487	C	T	157178487	3	4	48	1	0	0	0	0	1	0	0	0	9061	875	31	1	544	1	LSM11	5	157178487	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	124959	157178487	23736773	1623	6091										
CLINT1	9685	broad.mit.edu	37	chr5	157218887	157218887	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgtgagccactaacaagttCtaccgctggctgtgaggcac	11	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:157218887C>A	ENST00000411809.2	-	10	1408	c.1204G>T	c.(1204-1206)Gaa>Taa	p.E402*	CLINT1_ENST00000296951.5_Nonsense_Mutation_p.E384*|CLINT1_ENST00000523908.1_Nonsense_Mutation_p.E402*|CLINT1_ENST00000530742.1_Nonsense_Mutation_p.E384*|CLINT1_ENST00000523094.1_Nonsense_Mutation_p.E384*	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	402					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)			CTAACAAGTTCTACCGCTGGC	0.542																																					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.(1150-1152)Gaa>Taa		clathrin interactor 1							80	85	83					5																	157218887		2083	4224	6307	SO:0001587	stop_gained	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157218887C>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.1204G>T	5.37:g.157218887C>A	ENSP00000388340:p.Glu402*		Somatic				CLINT1_ENST00000530742.1_Nonsense_Mutation_p.E384*|CLINT1_ENST00000523908.1_Nonsense_Mutation_p.E402*|CLINT1_ENST00000411809.2_Nonsense_Mutation_p.E402*|CLINT1_ENST00000296951.5_Nonsense_Mutation_p.E384*	p.E384*	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	1355	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	402					B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Nonsense_Mutation	SNP	ENST00000411809.2	37	c.1150G>T	CCDS47330.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.30|15.30	2.791511|2.791511	0.50102|0.50102	.|.	.|.	ENSG00000113282|ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908|ENST00000521615	.|.	.|.	.|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.382752|.	0.27096|.	N|.	0.020957|.	.|T	.|0.74749	.|0.3757	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71981	.|-0.4428	.|3	0.06891|.	T|.	0.86|.	-19.0578|-19.0578	18.3852|18.3852	0.90464|0.90464	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	384;384;402;384;402|93	.|.	ENSP00000296951:E384X|.	E|R	-|-	1|2	0|0	CLINT1|CLINT1	157151465|157151465	0.000000|0.000000	0.05858|0.05858	0.947000|0.947000	0.38551|0.38551	0.185000|0.185000	0.23345|0.23345	0.049000|0.049000	0.14099|0.14099	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.542	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		28	49	1	0	1.42536e-11	1	1.77514e-11	28	49					A	157218887	C	A	157218887	4	1	48	1	0	0	0	0	0	1	0	0	3533	922	32	2	685	2	CLINT1	5	157218887	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	40400	157218887	23696373	1624	6092										
RNF145	153830	broad.mit.edu	37	chr5	158603743	158603743	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagtaaaaatcatagcaaatTtattgatgataacaattgtc	5	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:158603743T>G	ENST00000424310.2	-	5	877	c.518A>C	c.(517-519)aAa>aCa	p.K173T	RNF145_ENST00000521606.2_Missense_Mutation_p.K190T|RNF145_ENST00000274542.2_Missense_Mutation_p.K201T|RNF145_ENST00000520638.1_Missense_Mutation_p.K187T|RNF145_ENST00000519865.1_Missense_Mutation_p.K173T|RNF145_ENST00000518802.1_Missense_Mutation_p.K203T	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	173						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATAGCAAATTTATTGATGAT	0.373																																						ENST00000424310.2																			0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(517-519)aAa>aCa		ring finger protein 145							49	51	50					5																	158603743		2203	4300	6503	SO:0001583	missense	153830					integral to membrane	zinc ion binding	g.chr5:158603743T>G	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.518A>C	5.37:g.158603743T>G	ENSP00000409064:p.Lys173Thr		Somatic				RNF145_ENST00000519865.1_Missense_Mutation_p.K173T|RNF145_ENST00000518802.1_Missense_Mutation_p.K203T|RNF145_ENST00000520638.1_Missense_Mutation_p.K187T|RNF145_ENST00000521606.2_Missense_Mutation_p.K190T|RNF145_ENST00000274542.2_Missense_Mutation_p.K201T	p.K173T	NM_001199383.1	NP_001186312.1	WXS	Illumina GAIIx	Phase_I	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	877	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	173					B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	c.518A>C	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	T	9.639	1.138431	0.21123	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.77098	-1.07;-1.05;-1.05;-1.06;-1.06;-1.07;-1.06	5.46	5.46	0.80206	.	0.046550	0.85682	D	0.000000	T	0.48021	0.1477	N	0.00926	-1.1	0.49213	D	0.99976	B;B;B;B;B;B	0.14438	0.01;0.01;0.01;0.01;0.006;0.008	B;B;B;B;B;B	0.11329	0.006;0.006;0.006;0.006;0.004;0.004	T	0.56498	-0.7969	10	0.02654	T	1	-13.5539	15.8333	0.78778	0.0:0.0:0.0:1.0	.	189;190;187;203;173;201	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;.;RN145_HUMAN;.	T	201;173;173;189;190;203;173;187	ENSP00000274542:K201T;ENSP00000430397:K173T;ENSP00000409064:K173T;ENSP00000430753:K189T;ENSP00000445115:K190T;ENSP00000430955:K203T;ENSP00000429071:K187T	ENSP00000274542:K201T	K	-	2	0	RNF145	158536321	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.752000	0.55172	2.200000	0.70718	0.377000	0.23210	AAA		0.373	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		16	23	0	0	0	1	0	16	23					G	158603743	T	G	158603743	3	3	48	1	0	0	0	0	1	0	0	0	13462	1841	64	4	1501	4	RNF145	5	158603743	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1384856	158603743	22311517	1625	6093										
ADRA1B	147	broad.mit.edu	37	chr5	159398918	159398918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaccctgaagccccccgacGccgtgttcaaggtggtgttc	11	16	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:159398918G>A	ENST00000306675.3	+	2	1105	c.982G>A	c.(982-984)Gcc>Acc	p.A328T		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	328					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)	GCCCCCCGACGCCGTGTTCAA	0.602																																						ENST00000306675.3																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(982-984)Gcc>Acc		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)						32	36	35					5																	159398918		2196	4282	6478	SO:0001583	missense	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159398918G>A	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"GPCR / Class A : Adrenoceptors : alpha"	278	protein-coding gene	gene with protein product		104220	"adrenergic, alpha-1B-, receptor"				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.982G>A	5.37:g.159398918G>A	ENSP00000306662:p.Ala328Thr		Somatic					p.A328T	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)		2	1105	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	328					B0LPE1	Missense_Mutation	SNP	ENST00000306675.3	37	c.982G>A	CCDS4347.1	.	.	.	.	.	.	.	.	.	.	G	4.978	0.181585	0.09495	.	.	ENSG00000170214	ENST00000306675	T	0.36699	1.24	4.55	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.453994	0.24031	N	0.042183	T	0.08802	0.0218	N	0.01209	-0.955	0.29218	N	0.874097	B	0.02656	0.0	B	0.04013	0.001	T	0.33394	-0.9870	10	0.02654	T	1	.	3.9473	0.09353	0.2728:0.0:0.5417:0.1855	.	328	P35368	ADA1B_HUMAN	T	328	ENSP00000306662:A328T	ENSP00000306662:A328T	A	+	1	0	ADRA1B	159331496	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	0.799000	0.27028	0.920000	0.36970	0.455000	0.32223	GCC		0.602	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			20	62	0	0	0	1	0	20	62					A	159398918	G	A	159398918	3	1	48	1	0	0	0	0	1	0	0	0	335	1087	38	1	988	1	ADRA1B	5	159398918	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	795175	159398918	21516342	1626	6094										
SLU7	10569	broad.mit.edu	37	chr5	159835009	159835009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttcctgcattggcataagGattctctctcattgctctag	7	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:159835009G>A	ENST00000297151.4	-	9	1273	c.886C>T	c.(886-888)Cct>Tct	p.P296S		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	296					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGGCATAAGGATTCTCTCTC	0.308																																						ENST00000297151.4																			0				endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20						c.(886-888)Cct>Tct		SLU7 splicing factor homolog (S. cerevisiae)							148	159	155					5																	159835009		2203	4299	6502	SO:0001583	missense	10569				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	g.chr5:159835009G>A	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.886C>T	5.37:g.159835009G>A	ENSP00000297151:p.Pro296Ser		Somatic					p.P296S	NM_006425.4	NP_006416.3	WXS	Illumina GAIIx	Phase_I	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1273	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	296					D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	c.886C>T	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	G	33	5.227262	0.95173	.	.	ENSG00000164609	ENST00000297151	T	0.51574	0.7	6.16	6.16	0.99307	Pre-mRNA splicing Prp18-interacting factor (1);	0.000000	0.85682	D	0.000000	T	0.71888	0.3393	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71817	-0.4478	10	0.87932	D	0	-12.1327	20.8598	0.99761	0.0:0.0:1.0:0.0	.	296	O95391	SLU7_HUMAN	S	296	ENSP00000297151:P296S	ENSP00000297151:P296S	P	-	1	0	SLU7	159767587	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.378000	0.97191	2.937000	0.99478	0.650000	0.86243	CCT		0.308	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425		29	52	0	0	0	1	0	29	52					A	159835009	G	A	159835009	3	1	48	1	0	0	0	0	1	0	0	0	14770	1174	41	3	906	3	SLU7	5	159835009	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	436091	159835009	21080251	1627	6095										
GABRB2	2561	broad.mit.edu	37	chr5	160721219	160721219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gattttcagttgggaggcgcGtctcctcaggcgacttttct	12	10	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:160721219G>A	ENST00000393959.1	-	10	1407	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C	GABRB2_ENST00000517547.1_Missense_Mutation_p.R272C|GABRB2_ENST00000274547.2_Missense_Mutation_p.R470C|GABRB2_ENST00000520240.1_Missense_Mutation_p.R432C|GABRB2_ENST00000517901.1_Missense_Mutation_p.R369C|GABRB2_ENST00000353437.6_Missense_Mutation_p.R432C			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	470					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)	p.R432C(2)|p.R470C(2)		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)	TGGGAGGCGCGTCTCCTCAGG	0.507																																						ENST00000274547.2																			4	Substitution - Missense(4)	p.R432C(2)|p.R470C(2)	endometrium(2)|central_nervous_system(2)	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.(1408-1410)Cgc>Tgc		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						123	111	115					5																	160721219		2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160721219G>A		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.1408C>T	5.37:g.160721219G>A	ENSP00000377531:p.Arg470Cys		Somatic				GABRB2_ENST00000517547.1_Missense_Mutation_p.R272C|GABRB2_ENST00000353437.6_Missense_Mutation_p.R432C|GABRB2_ENST00000520240.1_Missense_Mutation_p.R432C|GABRB2_ENST00000393959.1_Missense_Mutation_p.R470C|GABRB2_ENST00000517901.1_Missense_Mutation_p.R369C	p.R470C	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)		11	1625	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	470					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.1408C>T	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192247	0.94960	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13;-2.13	5.74	5.74	0.90152	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.185384	0.64402	D	0.000012	D	0.91573	0.7338	L	0.42581	1.335	0.80722	D	1	D;D;D;B	0.89917	1.0;0.998;1.0;0.199	D;D;D;B	0.79784	0.993;0.93;0.982;0.048	D	0.91719	0.5387	10	0.66056	D	0.02	.	19.9251	0.97100	0.0:0.0:1.0:0.0	.	272;369;470;432	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	C	470;470;432;432;369;272	ENSP00000377531:R470C;ENSP00000274547:R470C;ENSP00000274546:R432C;ENSP00000429320:R432C;ENSP00000430532:R369C;ENSP00000429750:R272C	ENSP00000274547:R470C	R	-	1	0	GABRB2	160653797	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.738000	0.98835	2.715000	0.92844	0.650000	0.86243	CGC		0.507	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			27	52	0	0	0	1	0	27	52					A	160721219	G	A	160721219	3	1	48	1	0	0	0	0	1	0	0	0	6175	1145	40	1	134	1	GABRB2	5	160721219	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	886210	160721219	20194041	1628	6096										
GABRB2	2561	broad.mit.edu	37	chr5	160753387	160753387	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatctaaccgtatacagagaGaaatcgtaattggtagtccg	9	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:160753387G>T	ENST00000393959.1	-	9	1178	c.1179C>A	c.(1177-1179)ttC>ttA	p.F393L	GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000274547.2_Missense_Mutation_p.F393L|GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000353437.6_Intron			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	393					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)	TATACAGAGAGAAATCGTaat	0.373																																						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.(1177-1179)ttC>ttA		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						114	111	112					5																	160753387		2203	4299	6502	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160753387G>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.1179C>A	5.37:g.160753387G>T	ENSP00000377531:p.Phe393Leu		Somatic				GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000393959.1_Missense_Mutation_p.F393L|GABRB2_ENST00000517901.1_Intron	p.F393L	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)		10	1396	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	393					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.1179C>A	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	7.849	0.723550	0.15439	.	.	ENSG00000145864	ENST00000393959;ENST00000274547	T;T	0.69040	-0.37;-0.37	5.36	4.49	0.54785	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.334770	0.05741	U	0.601406	T	0.44726	0.1307	N	0.03608	-0.345	0.24983	N	0.991583	B	0.02656	0.0	B	0.01281	0.0	T	0.21177	-1.0253	10	0.11485	T	0.65	.	11.3068	0.49340	0.0859:0.0:0.9141:0.0	.	393	P47870	GBRB2_HUMAN	L	393	ENSP00000377531:F393L;ENSP00000274547:F393L	ENSP00000274547:F393L	F	-	3	2	GABRB2	160685965	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.294000	0.65687	1.278000	0.44430	-0.140000	0.14226	TTC		0.373	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			7	31	1	0	0.0381472	1	0.0387537	7	31					T	160753387	G	T	160753387	3	4	48	1	0	0	0	0	1	0	0	0	6175	933	33	2	367	2	GABRB2	5	160753387	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	32168	160753387	20161873	1629	6097										
GABRB2	2561	broad.mit.edu	37	chr5	160761811	160761811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttaatccagaaggagacccaGgagaggatggtaatcaggat	13	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:160761811G>A	ENST00000393959.1	-	7	779	c.780C>T	c.(778-780)tcC>tcT	p.S260S	GABRB2_ENST00000517547.1_Silent_p.S100S|GABRB2_ENST00000274547.2_Silent_p.S260S|GABRB2_ENST00000520240.1_Silent_p.S260S|GABRB2_ENST00000517901.1_Silent_p.S197S|GABRB2_ENST00000353437.6_Silent_p.S260S			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	260					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)	AGGAGACCCAGGAGAGGATGG	0.433																																						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.(778-780)tcC>tcT		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						173	156	162					5																	160761811		2203	4300	6503	SO:0001819	synonymous_variant	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160761811G>A		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.780C>T	5.37:g.160761811G>A			Somatic				GABRB2_ENST00000517547.1_Silent_p.S100S|GABRB2_ENST00000353437.6_Silent_p.S260S|GABRB2_ENST00000520240.1_Silent_p.S260S|GABRB2_ENST00000393959.1_Silent_p.S260S|GABRB2_ENST00000517901.1_Silent_p.S197S	p.S260S	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)		8	997	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	260					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Silent	SNP	ENST00000393959.1	37	c.780C>T	CCDS4355.1																																																																																				0.433	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			18	39	0	0	0	1	0	18	39					A	160761811	G	A	160761811	2	1	48	1	0	0	0	0	0	0	0	1	6175	987	35	3		3	GABRB2	5	160761811	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	8424	160761811	20153449	1630	6098										
GABRG2	2566	broad.mit.edu	37	chr5	161495013	161495013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaaaaaaaagcgatgagttCgccaaatatatggagcacag	9	6	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:161495013C>T	ENST00000361925.4	+	1	228	c.8C>T	c.(7-9)tCg>tTg	p.S3L	GABRG2_ENST00000393933.4_5'Flank|GABRG2_ENST00000356592.3_Missense_Mutation_p.S3L|GABRG2_ENST00000414552.2_Missense_Mutation_p.S3L			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	3					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCGATGAGTTCGCCAAATATA	0.453																																						ENST00000356592.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(7-9)tCg>tTg		gamma-aminobutyric acid (GABA) A receptor, gamma 2							72	69	70					5																	161495013		2203	4300	6503	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161495013C>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.8C>T	5.37:g.161495013C>T	ENSP00000354651:p.Ser3Leu		Somatic				GABRG2_ENST00000414552.2_Missense_Mutation_p.S3L|GABRG2_ENST00000361925.4_Missense_Mutation_p.S3L	p.S3L	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	WXS	Illumina GAIIx	Phase_I	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	1	468	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	3					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.8C>T	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465484	0.43839	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925	T;T;T	0.80566	-1.39;-0.86;-1.38	5.08	4.21	0.49690	.	0.671673	0.13812	N	0.361051	T	0.69450	0.3112	L	0.29908	0.895	0.80722	D	1	B;B;B	0.27765	0.003;0.118;0.188	B;B;B	0.21360	0.006;0.015;0.034	T	0.63216	-0.6687	10	0.34782	T	0.22	.	11.353	0.49598	0.0:0.9112:0.0:0.0888	.	3;3;3	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	L	3	ENSP00000349000:S3L;ENSP00000410732:S3L;ENSP00000354651:S3L	ENSP00000349000:S3L	S	+	2	0	GABRG2	161427591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.105000	0.31086	1.147000	0.42369	0.491000	0.48974	TCG		0.453	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			16	35	0	0	0	1	0	16	35					T	161495013	C	T	161495013	3	4	48	1	0	0	0	0	1	0	0	0	6180	893	31	1	10	1	GABRG2	5	161495013	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	733202	161495013	19420247	1631	6099										
NUDCD2	134492	broad.mit.edu	37	chr5	162883965	162883965	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatctctctaatgtaagcttTctctgcatttggtcttgcac	6	10	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:162883965T>C	ENST00000302764.4	-	3	449	c.360A>G	c.(358-360)agA>agG	p.R120R	NUDCD2_ENST00000519395.1_5'Flank|NUDCD2_ENST00000517501.1_Silent_p.R95R	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	120						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		ATGTAAGCTTTCTCTGCATTT	0.323																																						ENST00000302764.4																			0				large_intestine(1)|prostate(1)	2						c.(358-360)agA>agG		NudC domain containing 2							139	134	136					5																	162883965		2203	4300	6503	SO:0001819	synonymous_variant	134492					intracellular		g.chr5:162883965T>C	BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.360A>G	5.37:g.162883965T>C			Somatic				NUDCD2_ENST00000517501.1_Silent_p.R95R	p.R120R	NM_145266.4	NP_660309.1	WXS	Illumina GAIIx	Phase_I	Q8WVJ2	NUDC2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)	3	449	-	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	120					B2R4V0	Silent	SNP	ENST00000302764.4	37	c.360A>G	CCDS4361.1																																																																																				0.323	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252747.3	NM_145266		14	50	0	0	0	1	0	14	50					C	162883965	T	C	162883965	2	2	48	1	0	0	0	0	0	0	0	1	10732	1780	62	4		4	NUDCD2	5	162883965	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1388952	162883965	18031295	1632	6100										
HMMR	3161	broad.mit.edu	37	chr5	162900240	162900240	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgaaacagaaaaactcttgGaatacatcgaagaaattagg	8	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:162900240G>T	ENST00000358715.3	+	8	739	c.703G>T	c.(703-705)Gaa>Taa	p.E235*	HMMR_ENST00000432118.2_Nonsense_Mutation_p.E149*|HMMR_ENST00000353866.3_Nonsense_Mutation_p.E220*|HMMR_ENST00000393915.4_Nonsense_Mutation_p.E236*			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	235					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	AAAACTCTTGGAATACATCGA	0.264																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(361-363)Gaa>Taa		hyaluronan-mediated motility receptor (RHAMM)							32	34	34					5																	162900240		2181	4272	6453	SO:0001587	stop_gained	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162900240G>T	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.703G>T	5.37:g.162900240G>T	ENSP00000351554:p.Glu235*		Somatic				HMMR_ENST00000432118.2_Nonsense_Mutation_p.E149*|HMMR_ENST00000358715.3_Nonsense_Mutation_p.E235*|HMMR_ENST00000393915.4_Nonsense_Mutation_p.E236*|HMMR_ENST00000353866.3_Nonsense_Mutation_p.E220*	p.E121*			WXS	Illumina GAIIx	Phase_I	O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	8	858	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	235					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Nonsense_Mutation	SNP	ENST00000358715.3	37	c.361G>T	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	G	36	5.709593	0.96821	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000434157;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	.	.	.	5.61	4.73	0.59995	.	0.334906	0.36134	N	0.002776	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-15.2641	13.1025	0.59228	0.0753:0.0:0.9247:0.0	.	.	.	.	X	121;220;220;236;212;149;235	.	ENSP00000185942:E220X	E	+	1	0	HMMR	162832818	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.398000	0.52579	2.639000	0.89480	0.655000	0.94253	GAA		0.264	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		6	15	1	0	0.00116845	1	0.00122532	6	15					T	162900240	G	T	162900240	4	4	48	1	0	0	0	0	0	1	0	0	7251	1175	41	2	736	2	HMMR	5	162900240	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	16275	162900240	18015020	1633	6101										
HMMR	3161	broad.mit.edu	37	chr5	162902573	162902573	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacactggatgagcttgataAattacagcaaaaggaggaac	10	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:162902573A>C	ENST00000358715.3	+	11	1196	c.1160A>C	c.(1159-1161)aAa>aCa	p.K387T	HMMR_ENST00000432118.2_Missense_Mutation_p.K301T|HMMR_ENST00000353866.3_Missense_Mutation_p.K372T|HMMR_ENST00000393915.4_Missense_Mutation_p.K388T			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	387					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GAGCTTGATAAATTACAGCAA	0.383																																						ENST00000416990.2																			0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(817-819)aAa>aCa		hyaluronan-mediated motility receptor (RHAMM)							90	94	92					5																	162902573		2203	4300	6503	SO:0001583	missense	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162902573A>C	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1160A>C	5.37:g.162902573A>C	ENSP00000351554:p.Lys387Thr		Somatic				HMMR_ENST00000432118.2_Missense_Mutation_p.K301T|HMMR_ENST00000358715.3_Missense_Mutation_p.K387T|HMMR_ENST00000393915.4_Missense_Mutation_p.K388T|HMMR_ENST00000353866.3_Missense_Mutation_p.K372T	p.K273T			WXS	Illumina GAIIx	Phase_I	O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	11	1315	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	387					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	c.818A>C	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	A	5.783	0.328857	0.10956	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07	5.54	1.66	0.24008	.	0.703847	0.14567	N	0.311693	T	0.07773	0.0195	L	0.50333	1.59	0.09310	N	1	B;B;B;B	0.11235	0.004;0.001;0.004;0.004	B;B;B;B	0.17098	0.017;0.005;0.017;0.017	T	0.34153	-0.9840	10	0.41790	T	0.15	-0.4069	3.7855	0.08698	0.5993:0.2143:0.0691:0.1173	.	301;388;372;387	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	T	273;372;388;364;301;387	ENSP00000400527:K273T;ENSP00000185942:K372T;ENSP00000377492:K388T;ENSP00000402673:K301T;ENSP00000351554:K387T	ENSP00000185942:K372T	K	+	2	0	HMMR	162835151	0.950000	0.32346	0.005000	0.12908	0.133000	0.20885	0.693000	0.25497	0.101000	0.17610	0.397000	0.26171	AAA		0.383	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484		14	47	0	0	0	1	0	14	47					C	162902573	A	C	162902573	3	2	48	1	0	0	0	0	1	0	0	0	7251	14	1	4	1205	4	HMMR	5	162902573	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2333	162902573	18012687	1634	6102										
MAT2B	27430	broad.mit.edu	37	chr5	162945299	162945299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggccaacgaacaccatttcGaattggaatcaaagaatcac	7	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:162945299G>A	ENST00000321757.6	+	7	1074	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	MAT2B_ENST00000280969.5_Missense_Mutation_p.R301Q|MAT2B_ENST00000518095.1_3'UTR|MAT2B_ENST00000521838.2_3'UTR	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	312					cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)	p.R301Q(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	ACACCATTTCGAATTGGAATC	0.423																																						ENST00000280969.5																			1	Substitution - Missense(1)	p.R301Q(1)	large_intestine(1)	endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14						c.(901-903)cGa>cAa		methionine adenosyltransferase II, beta	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						99	93	95					5																	162945299		2203	4300	6503	SO:0001583	missense	27430				extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	g.chr5:162945299G>A	AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	6905	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 23E, member 1"	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379	ENST00000321757.6:c.935G>A	5.37:g.162945299G>A	ENSP00000325425:p.Arg312Gln		Somatic				MAT2B_ENST00000518731.1_3'UTR|MAT2B_ENST00000521838.1_3'UTR|MAT2B_ENST00000518095.1_3'UTR|MAT2B_ENST00000321757.6_Missense_Mutation_p.R312Q	p.R301Q	NM_182796.1	NP_877725.1	WXS	Illumina GAIIx	Phase_I	Q9NZL9	MAT2B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	7	1183	+	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	312					B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	Missense_Mutation	SNP	ENST00000321757.6	37	c.902G>A	CCDS4365.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966825	0.34659	.	.	ENSG00000038274	ENST00000280969;ENST00000321757;ENST00000415433	T;T	0.48522	0.81;0.81	5.89	4.12	0.48240	.	0.228482	0.34959	N	0.003558	T	0.25865	0.0630	N	0.22421	0.69	0.80722	D	1	P;P	0.44344	0.833;0.799	B;B	0.22753	0.041;0.025	T	0.03641	-1.1017	10	0.34782	T	0.22	.	12.8747	0.57984	0.1198:0.0:0.8802:0.0	.	312;301	Q9NZL9;Q9NZL9-2	MAT2B_HUMAN;.	Q	301;312;206	ENSP00000280969:R301Q;ENSP00000325425:R312Q	ENSP00000280969:R301Q	R	+	2	0	MAT2B	162877877	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.007000	0.63984	0.833000	0.34828	0.655000	0.94253	CGA		0.423	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252749.2	NM_013283		13	21	0	0	0	1	0	13	21					A	162945299	G	A	162945299	3	1	48	1	0	0	0	0	1	0	0	0	9340	1058	37	1	995	1	MAT2B	5	162945299	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	42726	162945299	17969961	1635	6103										
ODZ2	57451	broad.mit.edu	37	chr5	167630748	167630748	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctaattctctgggagaaaaGgacagccctccttcagggat	10	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:167630748G>T	ENST00000518659.1	+	18	3524	c.3485G>T	c.(3484-3486)aGg>aTg	p.R1162M	TENM2_ENST00000519204.1_Missense_Mutation_p.R1041M|TENM2_ENST00000403607.2_Missense_Mutation_p.R986M|TENM2_ENST00000520394.1_Missense_Mutation_p.R930M|TENM2_ENST00000545108.1_Missense_Mutation_p.R1162M	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1162					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)										TGGGAGAAAAGGACAGCCCTC	0.498																																						ENST00000519204.1																			0											c.(3121-3123)aGg>aTg		teneurin transmembrane protein 2							126	119	121					5																	167630748		1867	4094	5961	SO:0001583	missense	57451							g.chr5:167630748G>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3485G>T	5.37:g.167630748G>T	ENSP00000429430:p.Arg1162Met		Somatic				TENM2_ENST00000518659.1_Missense_Mutation_p.R1162M|TENM2_ENST00000545108.1_Missense_Mutation_p.R1162M|TENM2_ENST00000403607.2_Missense_Mutation_p.R986M|TENM2_ENST00000520394.1_Missense_Mutation_p.R930M	p.R1041M			WXS	Illumina GAIIx	Phase_I					17	3240	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3122G>T		.	.	.	.	.	.	.	.	.	.	g	26.7	4.762487	0.89932	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90955	-2.27;-2.28;-2.38;-2.75;-2.76	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.96182	0.8755	M	0.88979	2.995	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.993;0.999;0.992	D	0.96831	0.9611	10	0.87932	D	0	.	18.809	0.92050	0.0:0.0:1.0:0.0	.	1162;1162;930	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	M	1162;1162;1041;930;986	ENSP00000429430:R1162M;ENSP00000438635:R1162M;ENSP00000428964:R1041M;ENSP00000427874:R930M;ENSP00000384905:R986M	ENSP00000384905:R986M	R	+	2	0	ODZ2	167563326	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	9.810000	0.99221	2.499000	0.84300	0.645000	0.84053	AGG		0.498	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		33	63	1	0	2.61193e-14	1	3.39424e-14	33	63					T	167630748	G	T	167630748	3	4	48	1	0	0	0	0	1	0	0	0	10844	1000	35	5	3528	5	ODZ2	5	167630748	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4685449	167630748	13284512	1636	6104										
ODZ2	57451	broad.mit.edu	37	chr5	167689283	167689283	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agatagccgcaaggtggcatCtgtgctgaacaacgcctact	11	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:167689283C>A	ENST00000518659.1	+	29	7832	c.7793C>A	c.(7792-7794)tCt>tAt	p.S2598Y	TENM2_ENST00000519204.1_Missense_Mutation_p.S2477Y|TENM2_ENST00000403607.2_Missense_Mutation_p.S2422Y|TENM2_ENST00000520394.1_Missense_Mutation_p.S2359Y|TENM2_ENST00000545108.1_Missense_Mutation_p.S2597Y	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2598					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)										AAGGTGGCATCTGTGCTGAAC	0.562																																						ENST00000519204.1																			0											c.(7429-7431)tCt>tAt		teneurin transmembrane protein 2							42	47	45					5																	167689283		2117	4242	6359	SO:0001583	missense	57451							g.chr5:167689283C>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.7793C>A	5.37:g.167689283C>A	ENSP00000429430:p.Ser2598Tyr		Somatic				TENM2_ENST00000518659.1_Missense_Mutation_p.S2598Y|TENM2_ENST00000545108.1_Missense_Mutation_p.S2597Y|TENM2_ENST00000403607.2_Missense_Mutation_p.S2422Y|TENM2_ENST00000520394.1_Missense_Mutation_p.S2359Y	p.S2477Y			WXS	Illumina GAIIx	Phase_I					28	7548	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.7430C>A		.	.	.	.	.	.	.	.	.	.	C	10.29	1.309760	0.23821	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90563	-2.22;-2.2;-2.32;-2.69;-2.68	5.42	5.42	0.78866	.	0.201022	0.44097	D	0.000496	D	0.87466	0.6184	N	0.22421	0.69	0.09310	N	1	P;P;B	0.39094	0.659;0.529;0.255	P;B;B	0.45998	0.5;0.304;0.126	T	0.82806	-0.0275	10	0.87932	D	0	.	12.8866	0.58047	0.0:0.9252:0.0:0.0748	.	2597;2598;2359	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	Y	2598;2597;2477;2359;2422	ENSP00000429430:S2598Y;ENSP00000438635:S2597Y;ENSP00000428964:S2477Y;ENSP00000427874:S2359Y;ENSP00000384905:S2422Y	ENSP00000384905:S2422Y	S	+	2	0	ODZ2	167621861	0.690000	0.27699	0.034000	0.17996	0.674000	0.39518	3.638000	0.54332	2.694000	0.91930	0.655000	0.94253	TCT		0.562	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		9	15	1	0	0.000274275	1	0.000292037	9	15					A	167689283	C	A	167689283	3	1	48	1	0	0	0	0	1	0	0	0	10844	913	32	2	7880	2	ODZ2	5	167689283	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	58535	167689283	13225977	1637	6105										
ODZ2	57451	broad.mit.edu	37	chr5	167689785	167689785	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtagcagcaacatccagttTttaagacagaatgagatggg	11	6	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:167689785T>G	ENST00000518659.1	+	29	8334	c.8295T>G	c.(8293-8295)ttT>ttG	p.F2765L	TENM2_ENST00000519204.1_Missense_Mutation_p.F2644L|TENM2_ENST00000403607.2_Missense_Mutation_p.F2589L|TENM2_ENST00000520394.1_Missense_Mutation_p.F2526L|TENM2_ENST00000545108.1_Missense_Mutation_p.F2764L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2765					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)										ACATCCAGTTTTTAAGACAGA	0.488																																						ENST00000519204.1																			0											c.(7930-7932)ttT>ttG		teneurin transmembrane protein 2							28	29	29					5																	167689785		1954	4150	6104	SO:0001583	missense	57451							g.chr5:167689785T>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.8295T>G	5.37:g.167689785T>G	ENSP00000429430:p.Phe2765Leu		Somatic				TENM2_ENST00000518659.1_Missense_Mutation_p.F2765L|TENM2_ENST00000545108.1_Missense_Mutation_p.F2764L|TENM2_ENST00000403607.2_Missense_Mutation_p.F2589L|TENM2_ENST00000520394.1_Missense_Mutation_p.F2526L	p.F2644L			WXS	Illumina GAIIx	Phase_I					28	8050	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.7932T>G		.	.	.	.	.	.	.	.	.	.	T	15.74	2.923002	0.52653	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.93488	-2.74;-2.73;-2.89;-3.16;-3.23	5.25	1.73	0.24493	.	0.000000	0.85682	D	0.000000	D	0.95066	0.8402	M	0.69523	2.12	0.45205	D	0.998211	D;D;P	0.76494	0.999;0.998;0.954	D;D;D	0.87578	0.998;0.995;0.943	D	0.92661	0.6141	10	0.51188	T	0.08	.	8.059	0.30623	0.0:0.3886:0.0:0.6114	.	2764;2765;2526	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	L	2765;2764;2644;2526;2589	ENSP00000429430:F2765L;ENSP00000438635:F2764L;ENSP00000428964:F2644L;ENSP00000427874:F2526L;ENSP00000384905:F2589L	ENSP00000384905:F2589L	F	+	3	2	ODZ2	167622363	0.996000	0.38824	0.996000	0.52242	0.998000	0.95712	0.340000	0.19892	0.132000	0.18615	0.459000	0.35465	TTT		0.488	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		9	14	0	0	0	1	0	9	14					G	167689785	T	G	167689785	3	3	48	1	0	0	0	0	1	0	0	0	10844	1838	64	4	8382	4	ODZ2	5	167689785	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	502	167689785	13225475	1638	6106										
SLIT3	6586	broad.mit.edu	37	chr5	168180967	168180967	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcacgctggctgctccatcGaaagctccctctcgcacctc	8	18	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:168180967G>A	ENST00000519560.1	-	17	2150	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	SLIT3_ENST00000332966.8_Silent_p.F577F|SLIT3_ENST00000404867.3_Silent_p.F577F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	577					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)			CTGCTCCATCGAAAGCTCCCT	0.532																																					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.(1729-1731)ttC>ttT		slit homolog 3 (Drosophila)							38	36	37					5																	168180967		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168180967G>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.1731C>T	5.37:g.168180967G>A			Somatic				SLIT3_ENST00000404867.3_Silent_p.F577F|SLIT3_ENST00000332966.8_Silent_p.F577F	p.F577F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	WXS	Illumina GAIIx	Phase_I	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		17	2150	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	577					A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.1731C>T	CCDS4369.1																																																																																				0.532	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		6	14	0	0	0	1	0	6	14					A	168180967	G	A	168180967	2	1	48	1	0	0	0	0	0	0	0	1	14756	1049	37	1		1	SLIT3	5	168180967	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	491182	168180967	12734293	1639	6107										
FBXW11	23291	broad.mit.edu	37	chr5	171326969	171326969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggggatcagtgcgtaccattCgttcaatcagcttcttccaa	9	11	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:171326969C>T	ENST00000265094.5	-	4	646	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	FBXW11_ENST00000393802.2_Missense_Mutation_p.R136Q|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000296933.6_Missense_Mutation_p.R157Q|FBXW11_ENST00000425623.2_Missense_Mutation_p.R138Q	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	170					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.R170Q(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)			GCGTACCATTCGTTCAATCAG	0.448																																						ENST00000296933.6																			1	Substitution - Missense(1)	p.R170Q(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(469-471)cGa>cAa		F-box and WD repeat domain containing 11							220	211	214					5																	171326969		2203	4300	6503	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.chr5:171326969C>T	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.509G>A	5.37:g.171326969C>T	ENSP00000265094:p.Arg170Gln		Somatic				FBXW11_ENST00000265094.5_Missense_Mutation_p.R170Q|FBXW11_ENST00000425623.2_Missense_Mutation_p.R138Q|FBXW11_ENST00000393802.2_Missense_Mutation_p.R136Q|FBXW11_ENST00000522891.1_5'UTR	p.R157Q	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)		4	840	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	170			F-box.		B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	c.470G>A	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017809	0.93404	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623;ENST00000517395	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	4.94	4.94	0.65067	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.45377	0.1339	L	0.61036	1.89	0.80722	D	1	P;D;D;P	0.63046	0.612;0.991;0.992;0.743	B;P;P;B	0.59115	0.2;0.709;0.852;0.261	T	0.34576	-0.9823	10	0.45353	T	0.12	-7.3454	18.1307	0.89600	0.0:1.0:0.0:0.0	.	138;136;170;157	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	Q	157;170;136;138;191	ENSP00000296933:R157Q;ENSP00000265094:R170Q;ENSP00000377391:R136Q;ENSP00000444929:R138Q;ENSP00000428753:R191Q	ENSP00000265094:R170Q	R	-	2	0	FBXW11	171259574	0.997000	0.39634	0.957000	0.39632	0.984000	0.73092	7.771000	0.85420	2.441000	0.82636	0.462000	0.41574	CGA		0.448	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		73	108	0	0	0	1	0	73	108					T	171326969	C	T	171326969	3	4	48	1	0	0	0	0	1	0	0	0	5772	884	31	1	1155	1	FBXW11	5	171326969	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3146002	171326969	9588291	1640	6108										
SH3PXD2B	285590	broad.mit.edu	37	chr5	171766016	171766016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctctcctgggaggaagcttCggctgaaggccacgtcttgg	14	12	2	1	rs144659619		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:171766016C>T	ENST00000311601.5	-	13	2263	c.2093G>A	c.(2092-2094)cGa>cAa	p.R698Q	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	698					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)			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)			GAGGAAGCTTCGGCTGAAGGC	0.632													C|||	1	0.000199681	8e-04	0	5008	,	,		17318	0		0	False		,,,				2504	0					ENST00000311601.5																			0				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.(2092-2094)cGa>cAa		SH3 and PX domains 2B		C	GLN/ARG	8,4398	14.3+/-33.2	0,8,2195	42	43	43		2093	2.4	0.9	5	dbSNP_134	43	0,8600		0,0,4300	no	missense	SH3PXD2B	NM_001017995.2	43	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	benign	698/912	171766016	8,12998	2203	4300	6503	SO:0001583	missense	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.chr5:171766016C>T	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.2093G>A	5.37:g.171766016C>T	ENSP00000309714:p.Arg698Gln		Somatic				SH3PXD2B_ENST00000519643.1_Intron	p.R698Q	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)		13	2263	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	698					B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	c.2093G>A	CCDS34291.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.26	1.884844	0.33255	0.001816	0.0	ENSG00000174705	ENST00000311601	T	0.60299	0.2	5.57	2.39	0.29439	.	0.343394	0.29389	N	0.012300	T	0.36771	0.0979	N	0.24115	0.695	0.09310	N	1	B	0.18166	0.026	B	0.04013	0.001	T	0.14364	-1.0475	9	.	.	.	-8.1222	7.7312	0.28788	0.0:0.6348:0.0:0.3652	.	698	A1X283	SPD2B_HUMAN	Q	698	ENSP00000309714:R698Q	.	R	-	2	0	SH3PXD2B	171698621	0.001000	0.12720	0.885000	0.34714	0.990000	0.78478	0.333000	0.19768	0.722000	0.32252	0.561000	0.74099	CGA		0.632	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		22	45	0	0	0	1	0	22	45					T	171766016	C	T	171766016	3	4	48	1	0	0	0	0	1	0	0	0	14272	884	31	1	646	1	SH3PXD2B	5	171766016	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	439047	171766016	9149244	1641	6109										
HIGD2A	192286	broad.mit.edu	37	chr5	175815966	175815966	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacccgcgagaacccggtggTacccataggtaagtgggtgc	15	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:175815966T>C	ENST00000274787.2	+	1	219	c.146T>C	c.(145-147)gTa>gCa	p.V49A	NOP16_ENST00000389158.5_5'UTR|NOP16_ENST00000507413.1_5'Flank|NOP16_ENST00000510123.1_5'Flank|NOP16_ENST00000509257.1_5'Flank	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	49	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.				negative regulation of apoptotic process (GO:0043066)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		AACCCGGTGGTACCCATAGGT	0.562																																						ENST00000274787.2																			0				large_intestine(1)	1						c.(145-147)gTa>gCa		HIG1 hypoxia inducible domain family, member 2A							60	67	65					5																	175815966		2203	4299	6502	SO:0001583	missense	192286					integral to membrane		g.chr5:175815966T>C	BC007502	CCDS4401.1	5q35.2	2009-03-17	2009-03-17		ENSG00000146066	ENSG00000146066			28311	protein-coding gene	gene with protein product			"HIG1 domain family, member 2A"			12477932	Standard	NM_138820		Approved	MGC2198	uc003meg.3	Q9BW72	OTTHUMG00000130657	ENST00000274787.2:c.146T>C	5.37:g.175815966T>C	ENSP00000274787:p.Val49Ala		Somatic				NOP16_ENST00000389158.5_5'UTR	p.V49A	NM_138820.2	NP_620175.1	WXS	Illumina GAIIx	Phase_I	Q9BW72	HIG2A_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)	1	219	+	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	49			HIG1.			Missense_Mutation	SNP	ENST00000274787.2	37	c.146T>C	CCDS4401.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.941597	0.92526	.	.	ENSG00000146066	ENST00000274787	.	.	.	5.37	5.37	0.77165	Hypoxia induced protein, domain (2);	0.107597	0.64402	D	0.000006	T	0.80904	0.4713	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84221	0.0461	9	0.87932	D	0	-30.0811	14.4867	0.67622	0.0:0.0:0.0:1.0	.	49	Q9BW72	HIG2A_HUMAN	A	49	.	ENSP00000274787:V49A	V	+	2	0	HIGD2A	175748572	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	7.188000	0.77739	2.254000	0.74563	0.533000	0.62120	GTA		0.562	HIGD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253147.1	NM_138820		26	58	0	0	0	1	0	26	58					C	175815966	T	C	175815966	3	2	48	1	0	0	0	0	1	0	0	0	7118	1638	57	4	148	4	HIGD2A	5	175815966	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	4049950	175815966	5099294	1642	6110										
CLTB	1212	broad.mit.edu	37	chr5	175824668	175824668	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctggttccactcctccaggTccttcttggccttctcccgc	8	18	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:175824668T>C	ENST00000310418.4	-	4	609	c.404A>G	c.(403-405)gAc>gGc	p.D135G	CLTB_ENST00000345807.2_Missense_Mutation_p.D135G	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	135	Involved in binding clathrin heavy chain.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	ciliary membrane (GO:0060170)|clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|trans-Golgi network (GO:0005802)	peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		CTCCTCCAGGTCCTTCTTGGC	0.552																																						ENST00000310418.4																			0				lung(1)	1						c.(403-405)gAc>gGc		clathrin, light chain B							184	171	175					5																	175824668		2203	4300	6503	SO:0001583	missense	1212				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity	g.chr5:175824668T>C	M20470	CCDS4402.1, CCDS4403.1	5q35.2	2010-05-11	2010-05-11		ENSG00000175416	ENSG00000175416			2091	protein-coding gene	gene with protein product		118970	"clathrin, light polypeptide (Lcb)"			7713494	Standard	NM_007097		Approved	Lcb	uc003meh.4	P09497	OTTHUMG00000130662	ENST00000310418.4:c.404A>G	5.37:g.175824668T>C	ENSP00000309415:p.Asp135Gly		Somatic				CLTB_ENST00000345807.2_Missense_Mutation_p.D135G	p.D135G	NM_007097.3	NP_009028.1	WXS	Illumina GAIIx	Phase_I	P09497	CLCB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)	4	609	-	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	135			Involved in binding clathrin heavy chain.		Q53Y37|Q6FHW1	Missense_Mutation	SNP	ENST00000310418.4	37	c.404A>G	CCDS4403.1	.	.	.	.	.	.	.	.	.	.	t	14.99	2.699864	0.48307	.	.	ENSG00000175416	ENST00000310418;ENST00000345807	.	.	.	4.0	4.0	0.46444	.	0.053840	0.64402	U	0.000001	T	0.59046	0.2165	L	0.58101	1.795	0.58432	D	0.999997	B;B	0.25105	0.074;0.118	B;B	0.27796	0.059;0.083	T	0.61397	-0.7071	9	0.56958	D	0.05	.	12.9401	0.58337	0.0:0.0:0.0:1.0	.	135;135	P09497-2;P09497	.;CLCB_HUMAN	G	135	.	ENSP00000309415:D135G	D	-	2	0	CLTB	175757274	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	6.276000	0.72601	1.448000	0.47680	0.248000	0.18094	GAC		0.552	CLTB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253153.1			6	78	0	0	0	1	0	6	78					C	175824668	T	C	175824668	3	2	48	1	0	0	0	0	1	0	0	0	3567	1667	58	4	297	4	CLTB	5	175824668	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	8702	175824668	5090592	1643	6111										
FAF2	23197	broad.mit.edu	37	chr5	175921084	175921084	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggactctgatgagttttgtCggtaagtggattgattattt	12	3	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:175921084C>T	ENST00000261942.6	+	6	621	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	190					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TGAGTTTTGTCGGTAAGTGGA	0.403																																						ENST00000261942.6																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						c.e6+1		Fas associated factor family member 2							163	158	160					5																	175921084		2203	4300	6503	SO:0001630	splice_region_variant	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175921084C>T	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"UBX domain containing"	24666	protein-coding gene	gene with protein product	"expressed in T cells and eosinophils in atopic dermatitis", "UBX domain protein 3B"		"UBX domain containing 8"	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.569+1C>T	5.37:g.175921084C>T			Somatic					p.R190_splice	NM_014613.2	NP_055428.1	WXS	Illumina GAIIx	Phase_I	Q96CS3	FAF2_HUMAN			6	621	+			190					O94963|Q8IUF2|Q9BRP2|Q9BVM7	Splice_Site	SNP	ENST00000261942.6	37	c.569_splice	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396910	0.83120	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	T	0.55413	0.52	5.36	5.36	0.76844	UAS (1);	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78740	-0.2086	10	0.87932	D	0	-11.8329	14.3143	0.66437	0.1484:0.8516:0.0:0.0	.	190	Q96CS3	FAF2_HUMAN	C	190	ENSP00000261942:R190C	ENSP00000261942:R190C	R	+	1	0	FAF2	175853690	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.551000	0.67274	2.664000	0.90586	0.650000	0.86243	CGC		0.403	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613	Missense_Mutation	17	38	0	0	0	1	0	17	38					T	175921084	C	T	175921084	5	4	48	1	0	0	0	0	0	0	1	0	5375	898	31	1	590	1	FAF2	5	175921084	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	96416	175921084	4994176	1644	6112										
CDHR2	54825	broad.mit.edu	37	chr5	176002378	176002378	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagcctgaccttgacccccAgtttgtcagggagttttact	9	13	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176002378A>G	ENST00000510636.1	+	9	993	c.719A>G	c.(718-720)cAg>cGg	p.Q240R	CDHR2_ENST00000261944.5_Missense_Mutation_p.Q240R|CDHR2_ENST00000506348.1_Missense_Mutation_p.Q240R	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	240	Cadherin 2. {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						CTTGACCCCCAGTTTGTCAGG	0.617																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(718-720)cAg>cGg		cadherin-related family member 2							89	83	85					5																	176002378		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.chr5:176002378A>G	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.719A>G	5.37:g.176002378A>G	ENSP00000424565:p.Gln240Arg		Somatic				CDHR2_ENST00000506348.1_Missense_Mutation_p.Q240R|CDHR2_ENST00000261944.5_Missense_Mutation_p.Q240R	p.Q240R	NM_001171976.1	NP_001165447.1	WXS	Illumina GAIIx	Phase_I	Q9BYE9	CDHR2_HUMAN			9	993	+			240			Cadherin 2.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.719A>G	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	A	8.632	0.893852	0.17613	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.60424	0.19;0.19;0.19	4.32	3.11	0.35812	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.38825	0.1055	L	0.27975	0.815	0.29646	N	0.844337	B	0.10296	0.003	B	0.09377	0.004	T	0.29792	-1.0000	9	0.15066	T	0.55	-10.2757	7.1444	0.25575	0.8111:0.0:0.1889:0.0	.	240	Q9BYE9	CDHR2_HUMAN	R	240	ENSP00000424565:Q240R;ENSP00000261944:Q240R;ENSP00000421078:Q240R	ENSP00000261944:Q240R	Q	+	2	0	CDHR2	175934984	0.996000	0.38824	1.000000	0.80357	0.977000	0.68977	1.827000	0.39102	0.660000	0.30964	0.391000	0.25812	CAG		0.617	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		26	46	0	0	0	1	0	26	46					G	176002378	A	G	176002378	3	3	48	1	0	0	0	0	1	0	0	0	3121	188	7	4	749	4	CDHR2	5	176002378	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	81294	176002378	4912882	1645	6113										
UNC5A	90249	broad.mit.edu	37	chr5	176304275	176304275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acgctgcacaagccggaagaCgtgaggtgtggccgcgggcc	17	12	0	2	rs150349541		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176304275C>T	ENST00000329542.4	+	9	1735	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	UNC5A_ENST00000261961.3_Silent_p.D447D	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	487	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				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)			AGCCGGAAGACGTGAGGTGTG	0.652																																						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.(1459-1461)gaC>gaT		unc-5 homolog A (C. elegans)		C		0,4406		0,0,2203	45	44	44		1461	-2	1	5	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UNC5A	NM_133369.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		487/843	176304275	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176304275C>T	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.1461C>T	5.37:g.176304275C>T			Somatic				UNC5A_ENST00000261961.3_Silent_p.D447D	p.D487D	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)		9	1735	+	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)	487			ZU5.		B2RXE6|Q8TF26|Q96GP4	Silent	SNP	ENST00000329542.4	37	c.1461C>T	CCDS34299.1																																																																																				0.652	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		29	36	0	0	0	1	0	29	36					T	176304275	C	T	176304275	2	4	48	1	0	0	0	0	0	0	0	1	17006	535	19	1		1	UNC5A	5	176304275	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	301897	176304275	4610985	1646	6114										
NSD1	64324	broad.mit.edu	37	chr5	176639179	176639179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcccagtttgacaccacaggCtgagctccctgaaccaggta	9	14	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176639179C>T	ENST00000439151.2	+	5	3824	c.3779C>T	c.(3778-3780)gCt>gTt	p.A1260V	NSD1_ENST00000354179.4_Missense_Mutation_p.A991V|NSD1_ENST00000361032.4_Missense_Mutation_p.A1157V|NSD1_ENST00000347982.4_Missense_Mutation_p.A991V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1260					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)		ACACCACAGGCTGAGCTCCCT	0.413			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.(3778-3780)gCt>gTt		nuclear receptor binding SET domain protein 1							34	36	35					5																	176639179		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.chr5:176639179C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3779C>T	5.37:g.176639179C>T	ENSP00000395929:p.Ala1260Val	HNSCC(47;0.14)	Somatic				NSD1_ENST00000354179.4_Missense_Mutation_p.A991V|NSD1_ENST00000361032.4_Missense_Mutation_p.A1157V|NSD1_ENST00000347982.4_Missense_Mutation_p.A991V	p.A1260V	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	3824	+	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)	1260					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.3779C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876931	0.51801	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.92805	-3.0;-3.01;-3.0;-3.11	4.35	4.35	0.52113	.	0.677027	0.13499	N	0.383440	D	0.84234	0.5427	N	0.08118	0	0.24240	N	0.995369	B;B;B	0.19200	0.034;0.034;0.02	B;B;B	0.18871	0.023;0.023;0.006	T	0.76798	-0.2826	10	0.72032	D	0.01	.	14.1108	0.65120	0.0:1.0:0.0:0.0	.	991;1157;1260	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	V	991;1260;991;1157	ENSP00000346111:A991V;ENSP00000395929:A1260V;ENSP00000343209:A991V;ENSP00000354310:A1157V	ENSP00000343209:A991V	A	+	2	0	NSD1	176571785	1.000000	0.71417	0.744000	0.31058	0.997000	0.91878	2.778000	0.47726	2.426000	0.82243	0.655000	0.94253	GCT		0.413	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		9	23	0	0	0	1	0	9	23					T	176639179	C	T	176639179	3	4	48	1	0	0	0	0	1	0	0	0	10678	797	28	3	3793	3	NSD1	5	176639179	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	334904	176639179	4276081	1647	6115										
NSD1	64324	broad.mit.edu	37	chr5	176665324	176665324	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtggacgagaattctttgatTtcaaccaaagaagagcctcc	9	9	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176665324T>G	ENST00000439151.2	+	7	4053	c.4008T>G	c.(4006-4008)atT>atG	p.I1336M	NSD1_ENST00000354179.4_Missense_Mutation_p.I1067M|NSD1_ENST00000361032.4_Missense_Mutation_p.I1233M|NSD1_ENST00000347982.4_Missense_Mutation_p.I1067M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1336					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)		ATTCTTTGATTTCAACCAAAG	0.502			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.(4006-4008)atT>atG		nuclear receptor binding SET domain protein 1							93	99	97					5																	176665324		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.chr5:176665324T>G	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.4008T>G	5.37:g.176665324T>G	ENSP00000395929:p.Ile1336Met	HNSCC(47;0.14)	Somatic				NSD1_ENST00000354179.4_Missense_Mutation_p.I1067M|NSD1_ENST00000361032.4_Missense_Mutation_p.I1233M|NSD1_ENST00000347982.4_Missense_Mutation_p.I1067M	p.I1336M	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)	7	4053	+	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)	1336					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.4008T>G	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.360000	0.61403	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.94138	-3.26;-3.26;-3.26;-3.36	5.19	1.25	0.21368	.	0.396419	0.24422	N	0.038667	D	0.89255	0.6663	N	0.19112	0.55	0.25718	N	0.985409	D;D;P	0.61080	0.969;0.989;0.947	P;P;B	0.54100	0.742;0.673;0.355	T	0.82129	-0.0610	10	0.66056	D	0.02	.	6.0152	0.19598	0.158:0.0:0.3292:0.5128	.	1067;1233;1336	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	M	1067;1336;1067;1233	ENSP00000346111:I1067M;ENSP00000395929:I1336M;ENSP00000343209:I1067M;ENSP00000354310:I1233M	ENSP00000343209:I1067M	I	+	3	3	NSD1	176597930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.011000	0.29911	0.069000	0.16605	0.533000	0.62120	ATT		0.502	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		21	85	0	0	0	1	0	21	85					G	176665324	T	G	176665324	3	3	48	1	0	0	0	0	1	0	0	0	10678	1829	64	4	4030	4	NSD1	5	176665324	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	26145	176665324	4249936	1648	6116										
NSD1	64324	broad.mit.edu	37	chr5	176675273	176675273	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgggatgcctgcctctaaaaAaatgcagggtgaacgcggtg	14	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176675273A>C	ENST00000439151.2	+	11	4634	c.4589A>C	c.(4588-4590)aAa>aCa	p.K1530T	NSD1_ENST00000354179.4_Missense_Mutation_p.K1261T|NSD1_ENST00000361032.4_Missense_Mutation_p.K1427T|NSD1_ENST00000347982.4_Missense_Mutation_p.K1261T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1530					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)		GCCTCTAAAAAAATGCAGGGT	0.498			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.(4588-4590)aAa>aCa		nuclear receptor binding SET domain protein 1							87	91	90					5																	176675273		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.chr5:176675273A>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4589A>C	5.37:g.176675273A>C	ENSP00000395929:p.Lys1530Thr	HNSCC(47;0.14)	Somatic				NSD1_ENST00000354179.4_Missense_Mutation_p.K1261T|NSD1_ENST00000361032.4_Missense_Mutation_p.K1427T|NSD1_ENST00000347982.4_Missense_Mutation_p.K1261T	p.K1530T	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)	11	4634	+	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)	1530					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.4589A>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669403	0.47677	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93906	-3.21;-3.22;-3.21;-3.31	5.22	1.36	0.22044	Zinc finger, FYVE/PHD-type (1);	0.315263	0.26824	N	0.022304	D	0.90920	0.7146	L	0.49126	1.545	0.36357	D	0.860469	P;P;P	0.36465	0.554;0.554;0.469	B;B;B	0.42495	0.389;0.276;0.205	D	0.88342	0.2975	10	0.56958	D	0.05	.	9.2013	0.37260	0.5748:0.0:0.4252:0.0	.	1261;1427;1530	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	T	1261;1530;1261;1427	ENSP00000346111:K1261T;ENSP00000395929:K1530T;ENSP00000343209:K1261T;ENSP00000354310:K1427T	ENSP00000343209:K1261T	K	+	2	0	NSD1	176607879	0.998000	0.40836	0.943000	0.38184	0.991000	0.79684	1.713000	0.37951	-0.012000	0.14223	-0.290000	0.09829	AAA		0.498	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		13	27	0	0	0	1	0	13	27					C	176675273	A	C	176675273	3	2	48	1	0	0	0	0	1	0	0	0	10678	14	1	4	4627	4	NSD1	5	176675273	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	9949	176675273	4239987	1649	6117										
RGS14	10636	broad.mit.edu	37	chr5	176798548	176798548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagttctctggtgaaggtgCccagtagtgccactggaaag	13	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176798548C>T	ENST00000408923.3	+	14	1644	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	486					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGAAGGTGCCCAGTAGTGC	0.577																																					NSCLC(47;353 1896 28036)	ENST00000408923.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12						c.(1456-1458)Ccc>Tcc		regulator of G-protein signaling 14							102	112	109					5																	176798548		2003	4179	6182	SO:0001583	missense	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176798548C>T	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"Regulators of G-protein signaling"	9996	protein-coding gene	gene with protein product		602513	"regulator of G-protein signalling 14"				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.1456C>T	5.37:g.176798548C>T	ENSP00000386229:p.Pro486Ser		Somatic				RGS14_ENST00000506944.1_3'UTR	p.P486S	NM_006480.4	NP_006471.2	WXS	Illumina GAIIx	Phase_I	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	1644	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	486					O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	ENST00000408923.3	37	c.1456C>T	CCDS43405.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635353	0.29068	.	.	ENSG00000169220	ENST00000408923;ENST00000336477	T	0.38240	1.15	4.33	0.389	0.16269	.	0.649699	0.14029	N	0.346319	T	0.13415	0.0325	N	0.12182	0.205	0.09310	N	1	B;B;B	0.21821	0.061;0.011;0.0	B;B;B	0.20384	0.029;0.029;0.003	T	0.25222	-1.0138	10	0.07175	T	0.84	-4.3454	1.459	0.02391	0.1446:0.4414:0.1504:0.2637	.	257;334;486	B3KUX0;O43566-5;O43566	.;.;RGS14_HUMAN	S	486;267	ENSP00000386229:P486S	ENSP00000336864:P267S	P	+	1	0	RGS14	176731154	0.000000	0.05858	0.000000	0.03702	0.500000	0.33767	-0.155000	0.10115	-0.118000	0.11851	-0.262000	0.10625	CCC		0.577	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		74	122	0	0	0	1	0	74	122					T	176798548	C	T	176798548	3	4	48	1	0	0	0	0	1	0	0	0	13312	739	26	3	1510	3	RGS14	5	176798548	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	123275	176798548	4116712	1650	6118										
FAM193B	54540	broad.mit.edu	37	chr5	176951478	176951478	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctggctgcttggggccagcGacctggcccttggcactggg	16	14	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176951478G>A	ENST00000514747.1	-	6	2052	c.2004C>T	c.(2002-2004)gtC>gtT	p.V668V	FAM193B_ENST00000329540.5_Silent_p.V294V|FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000443375.2_Silent_p.V635V	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	748						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						TGGGGCCAGCGACCTGGCCCT	0.682																																						ENST00000329540.5																			0				kidney(1)|large_intestine(3)	4						c.(880-882)gtC>gtT		family with sequence similarity 193, member B							14	16	15					5																	176951478		1894	4108	6002	SO:0001819	synonymous_variant	54540							g.chr5:176951478G>A		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.2004C>T	5.37:g.176951478G>A			Somatic				FAM193B_ENST00000514747.1_Silent_p.V668V|FAM193B_ENST00000443375.2_Silent_p.V635V	p.V294V			WXS	Illumina GAIIx	Phase_I	Q6IPW0	Q6IPW0_HUMAN			9	3711	-			344					E9PET5|Q9NW00	Silent	SNP	ENST00000514747.1	37	c.882C>T	CCDS54954.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.560761	0.00910	.	.	ENSG00000146067	ENST00000524677	.	.	.	5.71	0.223	0.15292	.	.	.	.	.	T	0.24122	0.0584	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25606	-1.0127	4	.	.	.	6.8366	4.5867	0.12285	0.1601:0.3858:0.3636:0.0905	.	.	.	.	C	354	.	.	R	-	1	0	FAM193B	176884084	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.029000	0.12329	0.325000	0.23359	-0.347000	0.07816	CGC		0.682	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		9	20	0	0	0	1	0	9	20					A	176951478	G	A	176951478	2	1	48	1	0	0	0	0	0	0	0	1	5530	1045	37	1		1	FAM193B	5	176951478	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	152930	176951478	3963782	1651	6119										
HNRNPAB	85007	broad.mit.edu	37	chr5	177634126	177634126	+	IGR	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaattgccaatggatccaaAgttgaacaaaagacgaggtt	10	6	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:177634126A>C	ENST00000308158.5	-	0	2038				HNRNPAB_ENST00000506339.1_Missense_Mutation_p.K190T|PHYKPL_ENST00000481811.1_5'Flank|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.K190T|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000358344.3_Missense_Mutation_p.K190T|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.K190T	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase							mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	ATGGATCCAAAGTTGAACAAA	0.443																																						ENST00000358344.3																			0				large_intestine(4)|prostate(1)|urinary_tract(1)	6						c.(568-570)aAg>aCg		heterogeneous nuclear ribonucleoprotein A/B							127	124	125					5																	177634126		2203	4300	6503	SO:0001628	intergenic_variant	3182				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr5:177634126A>C	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"5-phosphonooxy-L-lysine phospho-lyase"	614683	"alanine-glyoxylate aminotransferase 2-like 2"	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892		5.37:g.177634126A>C			Somatic				HNRNPAB_ENST00000504898.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.K190T|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000506339.1_Missense_Mutation_p.K190T	p.K190T	NM_031266.2	NP_112556.2	WXS	Illumina GAIIx	Phase_I	Q99729	ROAA_HUMAN			5	826	+			190			RRM 2.		A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	c.569A>C	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.660881	0.67700	.	.	ENSG00000197451	ENST00000358344;ENST00000506339;ENST00000355836;ENST00000514633;ENST00000515193;ENST00000506259;ENST00000504898	D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.79759	0.4501	N	0.13327	0.33	0.58432	D	0.999999	P;P;P	0.38048	0.616;0.562;0.562	P;B;B	0.48334	0.574;0.439;0.439	T	0.77395	-0.2604	10	0.26408	T	0.33	.	12.3043	0.54893	1.0:0.0:0.0:0.0	.	190;190;190	D6RD18;Q99729-3;Q99729-2	.;.;.	T	190	ENSP00000351108:K190T;ENSP00000422501:K190T;ENSP00000348093:K190T;ENSP00000427110:K190T;ENSP00000423495:K190T;ENSP00000427465:K190T;ENSP00000425031:K190T	ENSP00000348093:K190T	K	+	2	0	HNRNPAB	177566732	1.000000	0.71417	0.998000	0.56505	0.898000	0.52572	8.797000	0.91882	1.787000	0.52448	0.379000	0.24179	AAG		0.443	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		33	58	0	0	0	1	0	33	58					C	177634126	A	C	177634126	1	2	48	0	1	0	0	0	0	0	0	0	7270	72	3	4		4	HNRNPAB	5	177634126	IGR	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	682648	177634126	3281134	1652	6120										
ZNF354B	117608	broad.mit.edu	37	chr5	178309997	178309997	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcaacagagatttgctaaaGaaaaaactccatcaaaatgt	6	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178309997G>T	ENST00000322434.3	+	5	770	c.544G>T	c.(544-546)Gaa>Taa	p.E182*	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTTGCTAAAGAAAAAACTCC	0.299																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(544-546)Gaa>Taa		zinc finger protein 354B							33	35	34					5																	178309997		2194	4289	6483	SO:0001587	stop_gained	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178309997G>T	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"Zinc fingers, C2H2-type", "-"	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.544G>T	5.37:g.178309997G>T	ENSP00000327143:p.Glu182*		Somatic					p.E182*	NM_058230.2	NP_478137.1	WXS	Illumina GAIIx	Phase_I	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	770	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	182					A8K0V2|Q5U5Z4	Nonsense_Mutation	SNP	ENST00000322434.3	37	c.544G>T	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681599	0.47991	.	.	ENSG00000178338	ENST00000322434	.	.	.	3.53	2.62	0.31277	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	5.1798	0.15154	0.1225:0.2125:0.665:0.0	.	.	.	.	X	182	.	ENSP00000327143:E182X	E	+	1	0	ZNF354B	178242603	1.000000	0.71417	0.376000	0.26042	0.048000	0.14542	4.527000	0.60573	1.805000	0.52779	0.561000	0.74099	GAA		0.299	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		9	22	1	0	0.000442599	1	0.00046913	9	22					T	178309997	G	T	178309997	4	4	48	1	0	0	0	0	0	1	0	0	17880	943	33	2	558	2	ZNF354B	5	178309997	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	675871	178309997	2605263	1653	6121			1	7		5	5	1166	N	G_A	3.574456e-05
ZNF354B	117608	broad.mit.edu	37	chr5	178310254	178310254	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaagaactcatacaggagaGaaaccctatatatgtaaaga	7	7	1	3	rs147300334	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178310254G>T	ENST00000322434.3	+	5	1027	c.801G>T	c.(799-801)gaG>gaT	p.E267D	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATACAGGAGAGAAACCCTATA	0.353																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(799-801)gaG>gaT		zinc finger protein 354B							59	66	64					5																	178310254		2202	4300	6502	SO:0001583	missense	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310254G>T	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"Zinc fingers, C2H2-type", "-"	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.801G>T	5.37:g.178310254G>T	ENSP00000327143:p.Glu267Asp		Somatic					p.E267D	NM_058230.2	NP_478137.1	WXS	Illumina GAIIx	Phase_I	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1027	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	267					A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	c.801G>T	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859104	0.51376	.	.	ENSG00000178338	ENST00000322434	T	0.26810	1.71	3.54	1.71	0.24356	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23370	0.0565	L	0.56280	1.765	0.29011	N	0.88685	B	0.34147	0.438	B	0.35470	0.203	T	0.20240	-1.0281	9	0.72032	D	0.01	-34.4246	5.6566	0.17647	0.1106:0.0:0.6953:0.194	.	267	Q96LW1	Z354B_HUMAN	D	267	ENSP00000327143:E267D	ENSP00000327143:E267D	E	+	3	2	ZNF354B	178242860	1.000000	0.71417	0.873000	0.34254	0.905000	0.53344	1.251000	0.32862	0.196000	0.20367	0.561000	0.74099	GAG		0.353	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		29	46	1	0	1.38267e-23	1	1.93402e-23	29	46					T	178310254	G	T	178310254	3	4	48	1	0	0	0	0	1	0	0	0	17880	933	33	2	815	2	ZNF354B	5	178310254	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	257	178310254	2605006	1654	6122			1	7		5	5	1166	N	G_A	3.574456e-05
ZNF354B	117608	broad.mit.edu	37	chr5	178310741	178310741	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacgacttaatagacaccgaAtaattcatactggagagaaa	7	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178310741A>G	ENST00000322434.3	+	5	1514	c.1288A>G	c.(1288-1290)Ata>Gta	p.I430V	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGACACCGAATAATTCATAC	0.358																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(1288-1290)Ata>Gta		zinc finger protein 354B							69	74	72					5																	178310741		2203	4300	6503	SO:0001583	missense	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310741A>G	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"Zinc fingers, C2H2-type", "-"	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1288A>G	5.37:g.178310741A>G	ENSP00000327143:p.Ile430Val		Somatic					p.I430V	NM_058230.2	NP_478137.1	WXS	Illumina GAIIx	Phase_I	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1514	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	430					A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	c.1288A>G	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.886648	0.33348	.	.	ENSG00000178338	ENST00000322434	T	0.18338	2.22	3.69	3.69	0.42338	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11452	0.0279	N	0.12443	0.215	0.25881	N	0.983586	P	0.38280	0.625	B	0.39119	0.291	T	0.14337	-1.0476	9	0.66056	D	0.02	-1.6144	10.3598	0.43987	1.0:0.0:0.0:0.0	.	430	Q96LW1	Z354B_HUMAN	V	430	ENSP00000327143:I430V	ENSP00000327143:I430V	I	+	1	0	ZNF354B	178243347	0.000000	0.05858	0.998000	0.56505	0.988000	0.76386	-0.055000	0.11807	1.545000	0.49373	0.454000	0.30748	ATA		0.358	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		18	46	0	0	0	1	0	18	46					G	178310741	A	G	178310741	3	3	48	1	0	0	0	0	1	0	0	0	17880	101	4	4	1302	4	ZNF354B	5	178310741	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	487	178310741	2604519	1655	6123			1	7		5	5	1166	N	G_A	3.574456e-05
ZNF354B	117608	broad.mit.edu	37	chr5	178310994	178310994	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcgcttagtaatcaccagaGaattcatactggagagaaac	8	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178310994G>T	ENST00000322434.3	+	5	1767	c.1541G>T	c.(1540-1542)aGa>aTa	p.R514I	RNU1-39P_ENST00000383897.1_RNA|ZNF354B_ENST00000522714.1_3'UTR	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATCACCAGAGAATTCATACT	0.393																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(1540-1542)aGa>aTa		zinc finger protein 354B							100	96	97					5																	178310994		2203	4300	6503	SO:0001583	missense	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310994G>T	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"Zinc fingers, C2H2-type", "-"	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1541G>T	5.37:g.178310994G>T	ENSP00000327143:p.Arg514Ile		Somatic				ZNF354B_ENST00000522714.1_3'UTR	p.R514I	NM_058230.2	NP_478137.1	WXS	Illumina GAIIx	Phase_I	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1767	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	514					A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	c.1541G>T	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.779146	0.49891	.	.	ENSG00000178338	ENST00000322434	T	0.24908	1.83	3.68	3.68	0.42216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40909	0.1136	M	0.67397	2.05	0.44162	D	0.996964	D	0.69078	0.997	D	0.64237	0.923	T	0.21381	-1.0247	9	0.46703	T	0.11	-36.4305	6.9101	0.24331	0.1251:0.0:0.8749:0.0	.	514	Q96LW1	Z354B_HUMAN	I	514	ENSP00000327143:R514I	ENSP00000327143:R514I	R	+	2	0	ZNF354B	178243600	0.002000	0.14202	0.996000	0.52242	0.918000	0.54935	0.627000	0.24506	1.894000	0.54839	0.555000	0.69702	AGA		0.393	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		25	51	1	0	5.35356e-11	1	6.62625e-11	25	51					T	178310994	G	T	178310994	3	4	48	1	0	0	0	0	1	0	0	0	17880	942	33	2	1555	2	ZNF354B	5	178310994	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	253	178310994	2604266	1656	6124			1	7		5	5	1166	N	G_A	3.574456e-05
ZNF354B	117608	broad.mit.edu	37	chr5	178311162	178311162	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcacttattgcacatcaaaGaattcatactggagagaaac	6	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178311162G>T	ENST00000322434.3	+	5	1935	c.1709G>T	c.(1708-1710)aGa>aTa	p.R570I	RNU1-39P_ENST00000383897.1_RNA|ZNF354B_ENST00000522714.1_3'UTR	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACATCAAAGAATTCATACT	0.343																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(1708-1710)aGa>aTa		zinc finger protein 354B							53	52	52					5																	178311162		2203	4299	6502	SO:0001583	missense	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178311162G>T	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"Zinc fingers, C2H2-type", "-"	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1709G>T	5.37:g.178311162G>T	ENSP00000327143:p.Arg570Ile		Somatic				ZNF354B_ENST00000522714.1_3'UTR	p.R570I	NM_058230.2	NP_478137.1	WXS	Illumina GAIIx	Phase_I	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1935	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	570					A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	c.1709G>T	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801604	0.50315	.	.	ENSG00000178338	ENST00000322434	T	0.24908	1.83	3.68	2.78	0.32641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45013	0.1321	M	0.66939	2.045	0.39938	D	0.974379	D	0.76494	0.999	D	0.71414	0.973	T	0.45308	-0.9270	9	0.72032	D	0.01	-42.4723	10.5802	0.45250	0.0:0.1983:0.8016:0.0	.	570	Q96LW1	Z354B_HUMAN	I	570	ENSP00000327143:R570I	ENSP00000327143:R570I	R	+	2	0	ZNF354B	178243768	0.002000	0.14202	0.936000	0.37596	0.973000	0.67179	1.229000	0.32600	0.724000	0.32296	0.555000	0.69702	AGA		0.343	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		4	42	1	0	0.00024832	1	0.000265255	4	42					T	178311162	G	T	178311162	3	4	48	1	0	0	0	0	1	0	0	0	17880	942	33	2	1723	2	ZNF354B	5	178311162	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	168	178311162	2604098	1657	6125			1	7		5	5	1166	N	G_A	3.574456e-05
GRM6	2916	broad.mit.edu	37	chr5	178416330	178416330	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcagtttgcagttaaaattCtcttcccagaactcggcgaa	8	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178416330C>A	ENST00000517717.1	-	6	1127	c.1089G>T	c.(1087-1089)gaG>gaT	p.E363D	GRM6_ENST00000231188.5_Missense_Mutation_p.E363D|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	363					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGTTAAAATTCTCTTCCCAGA	0.547																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1087-1089)gaG>gaT		glutamate receptor, metabotropic 6							95	93	94					5																	178416330		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178416330C>A	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1089G>T	5.37:g.178416330C>A	ENSP00000430767:p.Glu363Asp		Somatic				GRM6_ENST00000517717.1_Missense_Mutation_p.E363D|RP11-281O15.4_ENST00000519491.1_RNA	p.E363D	NM_000843.3	NP_000834.2	WXS	Illumina GAIIx	Phase_I	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	5	1267	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	363						Missense_Mutation	SNP	ENST00000517717.1	37	c.1089G>T	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	7.603	0.673092	0.14776	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.86030	-2.06;-2.06	5.07	0.809	0.18725	Extracellular ligand-binding receptor (1);	.	.	.	.	T	0.67211	0.2869	N	0.16098	0.37	0.35270	D	0.780358	B	0.06786	0.001	B	0.11329	0.006	T	0.56195	-0.8019	9	0.16896	T	0.51	.	4.8457	0.13512	0.0:0.432:0.2741:0.2939	.	363	O15303	GRM6_HUMAN	D	395;363;363	ENSP00000231188:E363D;ENSP00000430767:E363D	ENSP00000231188:E363D	E	-	3	2	GRM6	178348936	0.574000	0.26684	1.000000	0.80357	0.977000	0.68977	-0.032000	0.12266	0.266000	0.21894	0.655000	0.94253	GAG		0.547	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			25	47	1	0	1.10923e-09	1	1.34134e-09	25	47					A	178416330	C	A	178416330	3	1	48	1	0	0	0	0	1	0	0	0	6810	912	32	2	1568	2	GRM6	5	178416330	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	105168	178416330	2498930	1658	6126										
GRM6	2916	broad.mit.edu	37	chr5	178418532	178418532	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggctttggttccctgggaatCttgatagactgggcaataca	12	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178418532C>A	ENST00000517717.1	-	4	788	c.750G>T	c.(748-750)aaG>aaT	p.K250N	GRM6_ENST00000231188.5_Missense_Mutation_p.K250N|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	250					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCCTGGGAATCTTGATAGACT	0.602																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(748-750)aaG>aaT		glutamate receptor, metabotropic 6							175	176	175					5																	178418532		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178418532C>A	U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.750G>T	5.37:g.178418532C>A	ENSP00000430767:p.Lys250Asn		Somatic				GRM6_ENST00000517717.1_Missense_Mutation_p.K250N	p.K250N	NM_000843.3	NP_000834.2	WXS	Illumina GAIIx	Phase_I	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	3	928	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	250						Missense_Mutation	SNP	ENST00000517717.1	37	c.750G>T	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239309	0.79800	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.83914	-1.78;-1.78	5.35	4.46	0.54185	Extracellular ligand-binding receptor (1);	.	.	.	.	D	0.92093	0.7494	M	0.92367	3.3	0.45205	D	0.99821	D	0.76494	0.999	D	0.72625	0.978	D	0.92512	0.6017	9	0.51188	T	0.08	.	12.705	0.57056	0.0:0.9145:0.0:0.0855	.	250	O15303	GRM6_HUMAN	N	277;250;250	ENSP00000231188:K250N;ENSP00000430767:K250N	ENSP00000231188:K250N	K	-	3	2	GRM6	178351138	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.934000	0.40163	2.677000	0.91161	0.561000	0.74099	AAG		0.602	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			5	248	1	0	1	1	1	5	248					A	178418532	C	A	178418532	3	1	48	1	0	0	0	0	1	0	0	0	6810	912	32	2	1915	2	GRM6	5	178418532	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2202	178418532	2496728	1659	6127										
ADAMTS2	9509	broad.mit.edu	37	chr5	178559847	178559847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgttgtcccctccgcacaCgccacacttgtcttcctgct	7	18	1	0	rs574735794		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178559847C>T	ENST00000251582.7	-	14	2241	c.2140G>A	c.(2140-2142)Gtg>Atg	p.V714M		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	714	Cys-rich.				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)		CCTCCGCACACGCCACACTTG	0.602													C|||	1	0.000199681	0	0	5008	,	,		17260	0		0	False		,,,				2504	0.001					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.(2140-2142)Gtg>Atg		ADAM metallopeptidase with thrombospondin type 1 motif, 2							213	133	160					5																	178559847		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178559847C>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.2140G>A	5.37:g.178559847C>T	ENSP00000251582:p.Val714Met		Somatic					p.V714M	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)	14	2241	-	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)	714			Cys-rich.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2140G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469880	0.84533	.	.	ENSG00000087116	ENST00000251582	T	0.72615	-0.67	5.38	5.38	0.77491	.	0.000000	0.49305	D	0.000141	D	0.89522	0.6739	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.92508	0.6014	10	0.87932	D	0	.	18.4699	0.90769	0.0:1.0:0.0:0.0	.	714	O95450	ATS2_HUMAN	M	714	ENSP00000251582:V714M	ENSP00000251582:V714M	V	-	1	0	ADAMTS2	178492453	0.998000	0.40836	1.000000	0.80357	0.861000	0.49209	3.910000	0.56371	2.683000	0.91414	0.313000	0.20887	GTG		0.602	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		19	24	0	0	0	1	0	19	24					T	178559847	C	T	178559847	3	4	48	1	0	0	0	0	1	0	0	0	265	536	19	1	1531	1	ADAMTS2	5	178559847	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	141315	178559847	2355413	1660	6128										
RNF130	55819	broad.mit.edu	37	chr5	179394008	179394008	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttatcagtacatggcaaattCggctgcaaaatatttccagg	8	8	1	0	rs577094030		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:179394008C>T	ENST00000261947.4	-	7	1346	c.948G>A	c.(946-948)ccG>ccA	p.P316P	RNF130_ENST00000522208.2_Silent_p.P316P|RNF130_ENST00000521389.1_Silent_p.P316P|CTC-563A5.2_ENST00000510240.1_RNA	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGGCAAATTCGGCTGCAAAA	0.423													C|||	1	0.000199681	0	0.0014	5008	,	,		20024	0		0	False		,,,				2504	0				GBM(24;432 554 38471 39699 51728)	ENST00000522208.2																			0				breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(946-948)ccG>ccA		ring finger protein 130							79	80	79					5																	179394008		2203	4300	6503	SO:0001819	synonymous_variant	55819				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr5:179394008C>T	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"RING-type (C3HC4) zinc fingers"	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.948G>A	5.37:g.179394008C>T			Somatic				RNF130_ENST00000521389.1_Silent_p.P316P|RNF130_ENST00000261947.4_Silent_p.P316P	p.P316P			WXS	Illumina GAIIx	Phase_I	Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	966	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	316						Silent	SNP	ENST00000261947.4	37	c.948G>A																																																																																					0.423	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434		24	47	0	0	0	1	0	24	47					T	179394008	C	T	179394008	2	4	48	1	0	0	0	0	0	0	0	1	13453	871	31	1		1	RNF130	5	179394008	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	834161	179394008	1521252	1661	6129										
MAPK9	5601	broad.mit.edu	37	chr5	179676006	179676006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcccatacccaggatgacttCgggcgcccggtagtaccgtg	13	14	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:179676006C>T	ENST00000452135.2	-	6	881	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	MAPK9_ENST00000455781.1_Missense_Mutation_p.E195K|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000343111.6_Missense_Mutation_p.E195K|MAPK9_ENST00000539014.1_Missense_Mutation_p.E195K|MAPK9_ENST00000347470.4_Missense_Mutation_p.E195K|MAPK9_ENST00000393360.3_Missense_Mutation_p.E195K|MAPK9_ENST00000425491.2_Missense_Mutation_p.E195K			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	195	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)			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)			AGGATGACTTCGGGCGCCCGG	0.552																																						ENST00000452135.2																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(583-585)Gaa>Aaa		mitogen-activated protein kinase 9							228	244	239					5																	179676006		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.chr5:179676006C>T	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.583G>A	5.37:g.179676006C>T	ENSP00000394560:p.Glu195Lys		Somatic				MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000347470.4_Missense_Mutation_p.E195K|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Missense_Mutation_p.E195K|MAPK9_ENST00000539014.1_Missense_Mutation_p.E195K|MAPK9_ENST00000343111.6_Missense_Mutation_p.E195K|MAPK9_ENST00000455781.1_Missense_Mutation_p.E195K|MAPK9_ENST00000425491.2_Missense_Mutation_p.E195K	p.E195K			WXS	Illumina GAIIx	Phase_I	P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	881	-	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)	195			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.583G>A	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	C	34	5.373383	0.95923	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014	D;D;D;D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75;-3.75;-3.75;-3.75	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);	0.115168	0.64402	D	0.000020	D	0.98880	0.9621	H	0.98951	4.38	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;1.0	D;D;D;D;D	0.77004	0.956;0.936;0.972;0.972;0.989	D	0.99274	1.0894	10	0.87932	D	0	-20.759	19.6612	0.95875	0.0:1.0:0.0:0.0	.	195;195;195;195;195	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	K	195	ENSP00000394560:E195K;ENSP00000377028:E195K;ENSP00000389338:E195K;ENSP00000345524:E195K;ENSP00000321410:E195K;ENSP00000397422:E195K;ENSP00000443149:E195K	ENSP00000345524:E195K	E	-	1	0	MAPK9	179608612	1.000000	0.71417	0.949000	0.38748	0.551000	0.35334	7.711000	0.84669	2.639000	0.89480	0.650000	0.86243	GAA		0.552	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			27	367	0	0	0	1	0	27	367					T	179676006	C	T	179676006	3	4	48	1	0	0	0	0	1	0	0	0	9296	893	31	1	841	1	MAPK9	5	179676006	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	281998	179676006	1239254	1662	6130										
BTNL8	79908	broad.mit.edu	37	chr5	180374609	180374609	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attgttggactgaagattttCttctccaaattccagtgtaa	7	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:180374609C>A	ENST00000340184.4	+	4	977	c.771C>A	c.(769-771)ttC>ttA	p.F257L	BTNL8_ENST00000400707.3_Missense_Mutation_p.F132L|BTNL8_ENST00000231229.4_Missense_Mutation_p.F257L|BTNL8_ENST00000505126.1_Missense_Mutation_p.F50L|BTNL8_ENST00000511704.1_Missense_Mutation_p.F141L|BTNL8_ENST00000508408.1_Missense_Mutation_p.F257L|BTNL8_ENST00000533815.2_Missense_Mutation_p.F73L	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	257					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAAGATTTTCTTCTCCAAAT	0.488																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(769-771)ttC>ttA		butyrophilin-like 8							237	242	240					5																	180374609		2203	4296	6499	SO:0001583	missense	79908					integral to membrane		g.chr5:180374609C>A	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.771C>A	5.37:g.180374609C>A	ENSP00000342197:p.Phe257Leu		Somatic				BTNL8_ENST00000400707.3_Missense_Mutation_p.F132L|BTNL8_ENST00000511704.1_Missense_Mutation_p.F141L|BTNL8_ENST00000508408.1_Missense_Mutation_p.F257L|BTNL8_ENST00000340184.4_Missense_Mutation_p.F257L|BTNL8_ENST00000533815.2_Missense_Mutation_p.F73L|BTNL8_ENST00000505126.1_Missense_Mutation_p.F50L	p.F257L	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	WXS	Illumina GAIIx	Phase_I	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	1005	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	257					A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.771C>A	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	C	0.279	-0.987546	0.02180	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000400707;ENST00000508408;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T;T;T	0.58358	4.87;1.45;0.77;4.88;0.77;0.34;0.37	1.52	-3.05	0.05396	.	.	.	.	.	T	0.17066	0.0410	N	0.01874	-0.695	0.09310	N	1	B;B;B;B;B	0.22346	0.012;0.035;0.068;0.068;0.028	B;B;B;B;B	0.19148	0.004;0.008;0.023;0.014;0.024	T	0.14727	-1.0462	9	0.10636	T	0.68	.	2.2605	0.04066	0.4121:0.2506:0.0:0.3373	.	132;141;257;257;257	E9PG07;E9PEF6;F2Z2B2;A6NEX6;Q6UX41	.;.;.;.;BTNL8_HUMAN	L	257;257;132;257;141;50;73	ENSP00000231229:F257L;ENSP00000342197:F257L;ENSP00000383543:F132L;ENSP00000424585:F257L;ENSP00000425207:F141L;ENSP00000427441:F50L;ENSP00000435098:F73L	ENSP00000231229:F257L	F	+	3	2	BTNL8	180307215	0.000000	0.05858	0.000000	0.03702	0.187000	0.23431	-0.580000	0.05827	-1.386000	0.02098	-0.694000	0.03704	TTC		0.488	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		11	238	1	0	7.03913e-09	1	8.36985e-09	11	238					A	180374609	C	A	180374609	3	1	48	1	0	0	0	0	1	0	0	0	1569	912	32	2	811	2	BTNL8	5	180374609	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	698603	180374609	540651	1663	6131										
TRIM41	90933	broad.mit.edu	37	chr5	180651723	180651723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agctcttctgcgaggtagacGaagaggccatctgtgtggtg	15	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:180651723G>A	ENST00000315073.5	+	1	1434	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	TRIM41_ENST00000351937.5_Missense_Mutation_p.E242K|MIR4638_ENST00000581158.1_RNA|CTC-338M12.7_ENST00000499096.2_RNA	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	242					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E242*(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGAGGTAGACGAAGAGGCCAT	0.587																																						ENST00000315073.5																			1	Substitution - Nonsense(1)	p.E242*(1)	NS(1)	NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(724-726)Gaa>Aaa		tripartite motif containing 41							73	64	67					5																	180651723		2203	4300	6503	SO:0001583	missense	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180651723G>A	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19013	protein-coding gene	gene with protein product	"RING-finger protein that interacts with C kinase"	610530	"tripartite motif-containing 41"			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.724G>A	5.37:g.180651723G>A	ENSP00000320869:p.Glu242Lys		Somatic				CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.E242K	p.E242K	NM_033549.4	NP_291027.3	WXS	Illumina GAIIx	Phase_I	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	1434	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	242					B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	c.724G>A	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078408	0.55753	.	.	ENSG00000146063	ENST00000351937;ENST00000315073;ENST00000421508	T;T	0.43294	0.95;0.95	5.01	5.01	0.66863	Zinc finger, B-box (3);	0.000000	0.56097	D	0.000038	T	0.33235	0.0856	N	0.16656	0.425	0.40360	D	0.979235	P;P;D	0.55605	0.732;0.938;0.972	B;P;P	0.47981	0.388;0.482;0.563	T	0.07404	-1.0774	10	0.16420	T	0.52	.	15.8362	0.78799	0.0:0.0:1.0:0.0	.	242;242;242	Q8WV44;Q8WV44-2;Q8WV44-4	TRI41_HUMAN;.;.	K	242;242;121	ENSP00000336749:E242K;ENSP00000320869:E242K	ENSP00000320869:E242K	E	+	1	0	TRIM41	180584329	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	2.198000	0.42705	2.310000	0.77875	0.491000	0.48974	GAA		0.587	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		26	54	0	0	0	1	0	26	54					A	180651723	G	A	180651723	3	1	48	1	0	0	0	0	1	0	0	0	16531	1059	37	1	726	1	TRIM41	5	180651723	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	277114	180651723	263537	1664	6132										
C6orf146	222826	broad.mit.edu	37	chr6	4073522	4073522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgcttacctcttctctatggTacttccttcattaagaggac	6	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:4073522T>C	ENST00000274673.3	-	6	692	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	97																	TTCTCTATGGTACTTCCTTCA	0.308																																						ENST00000274673.3																			0											c.(289-291)Acc>Gcc		family with sequence similarity 217, member A							89	91	90					6																	4073522		2202	4300	6502	SO:0001583	missense	222826							g.chr6:4073522T>C	BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 146"	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.289A>G	6.37:g.4073522T>C	ENSP00000274673:p.Thr97Ala		Somatic				FAM217A_ENST00000380188.2_5'UTR	p.T97A	NM_173563.2	NP_775834.2	WXS	Illumina GAIIx	Phase_I	Q8IXS0	CF146_HUMAN			6	692	-			97					Q5JYK1	Missense_Mutation	SNP	ENST00000274673.3	37	c.289A>G	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.023746	0.35701	.	.	ENSG00000145975	ENST00000274673;ENST00000470599;ENST00000498677	T	0.16743	2.32	5.05	1.23	0.21249	.	0.262146	0.27198	N	0.020472	T	0.04272	0.0118	L	0.34521	1.04	0.09310	N	1	P	0.47106	0.89	B	0.42495	0.389	T	0.27673	-1.0067	10	0.56958	D	0.05	-0.0048	4.0613	0.09839	0.0:0.1868:0.178:0.6352	.	97	Q8IXS0	CF146_HUMAN	A	97;225;34	ENSP00000274673:T97A	ENSP00000274673:T97A	T	-	1	0	C6orf146	4018521	0.000000	0.05858	0.000000	0.03702	0.612000	0.37316	-0.438000	0.06905	0.064000	0.16427	0.383000	0.25322	ACC		0.308	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563		20	37	0	0	0	1	0	20	37					C	4073522	T	C	4073522	3	2	48	1	0	0	0	0	1	0	0	0	2337	1638	57	4	1245	4	C6orf146	6	4073522	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08		4073522	167041545	1665	6133										
RREB1	6239	broad.mit.edu	37	chr6	7240690	7240690	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtcagaaacccttcccttgTcaaaaatgcgatgccttctt	7	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:7240690T>G	ENST00000349384.6	+	11	4122				RREB1_ENST00000334984.6_Missense_Mutation_p.C1276W|RREB1_ENST00000379938.2_Missense_Mutation_p.C1276W|RREB1_ENST00000379933.3_Intron	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>tgG		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>G	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3809-5967T>G	6.37:g.7240690T>G			Somatic				RREB1_ENST00000349384.6_Intron|RREB1_ENST00000379933.3_Intron|RREB1_ENST00000334984.6_Missense_Mutation_p.C1276W	p.C1276W	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	Missense_Mutation	SNP	ENST00000349384.6	37	c.3828T>G	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.061660	0.76187	.	.	ENSG00000124782	ENST00000379938;ENST00000334984	D;D	0.85258	-1.96;-1.96	5.17	5.17	0.71159	.	.	.	.	.	D	0.95236	0.8455	H	0.99011	4.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.97102	0.9798	9	0.87932	D	0	-8.5385	14.8501	0.70289	0.0:0.0:0.0:1.0	.	1276;1276	Q92766-3;Q92766-2	.;.	W	1276	ENSP00000369270:C1276W;ENSP00000335574:C1276W	ENSP00000335574:C1276W	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			7	87	0	0	0	1	0	7	87					G	7240690	T	G	7240690	1	3	48	0	1	0	0	0	0	0	0	0	13694	1673	58	4		4	RREB1	6	7240690	Intron	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	3167168	7240690	163874377	1666	6134										
CAGE1	285782	broad.mit.edu	37	chr6	7373600	7373600	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aattcctcctgtaaagacaaGaactcttgttcttgggcctc	7	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:7373600G>T	ENST00000512086.1	-	5	1654	c.1452C>A	c.(1450-1452)ttC>ttA	p.F484L	CAGE1_ENST00000379918.4_Missense_Mutation_p.F484L|CAGE1_ENST00000502583.1_Missense_Mutation_p.F484L|CAGE1_ENST00000509324.1_5'Flank|CAGE1_ENST00000296742.7_Missense_Mutation_p.F348L|CAGE1_ENST00000338150.4_Missense_Mutation_p.F484L			Q8TC20	CAGE1_HUMAN	cancer antigen 1	484										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					GTAAAGACAAGAACTCTTGTT	0.398																																						ENST00000502583.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19						c.(1450-1452)ttC>ttA		cancer antigen 1							61	53	55					6																	7373600		1804	4072	5876	SO:0001583	missense	285782							g.chr6:7373600G>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.1452C>A	6.37:g.7373600G>T	ENSP00000427583:p.Phe484Leu		Somatic				CAGE1_ENST00000512086.1_Missense_Mutation_p.F484L|CAGE1_ENST00000379918.4_Missense_Mutation_p.F484L|CAGE1_ENST00000338150.4_Missense_Mutation_p.F484L|CAGE1_ENST00000296742.7_Missense_Mutation_p.F348L	p.F484L	NM_001170692.1	NP_001164163.1	WXS	Illumina GAIIx	Phase_I	Q8TC20	CAGE1_HUMAN			5	2016	-	Ovarian(93;0.0418)		484					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	ENST00000512086.1	37	c.1452C>A		.	.	.	.	.	.	.	.	.	.	G	12.72	2.021556	0.35701	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.48	2.21	0.28008	.	0.434585	0.22043	N	0.065436	T	0.20455	0.0492	L	0.47716	1.5	0.29170	N	0.877206	D;B;B	0.61697	0.99;0.004;0.004	P;B;B	0.54060	0.741;0.004;0.009	T	0.08911	-1.0699	10	0.05620	T	0.96	-0.1124	8.5538	0.33469	0.0:0.1309:0.5545:0.3145	.	484;484;484	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	L	484;484;484;348;484;484;484;496	ENSP00000369250:F484L;ENSP00000425493:F484L;ENSP00000296742:F348L;ENSP00000427583:F484L;ENSP00000338107:F484L;ENSP00000423789:F496L	ENSP00000296742:F348L	F	-	3	2	CAGE1	7318599	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	1.715000	0.37971	0.608000	0.30000	0.591000	0.81541	TTC		0.398	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		12	11	1	0	0.0135373	1	0.0139058	12	11					T	7373600	G	T	7373600	3	4	48	1	0	0	0	0	1	0	0	0	2574	933	33	2	1213	2	CAGE1	6	7373600	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	132910	7373600	163741467	1667	6135										
TXNDC5	81567	broad.mit.edu	37	chr6	7886244	7886244	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttctgcaatggtgtcatcGaagttattttcagtgagtgc	10	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:7886244G>A	ENST00000379757.4	-	8	1033	c.996C>T	c.(994-996)ttC>ttT	p.F332F	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000539054.1_Silent_p.F260F|TXNDC5_ENST00000473453.1_Silent_p.F224F	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	332	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TGGTGTCATCGAAGTTATTTT	0.423																																					Ovarian(119;1430 1625 3928 26125 34589)	ENST00000539054.1																			0											c.(778-780)ttC>ttT									155	126	136					6																	7886244		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr6:7886244G>A	AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"Protein disulfide isomerases"	21073	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 15"		"thioredoxin domain containing 5"				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.996C>T	6.37:g.7886244G>A			Somatic				TXNDC5_ENST00000379757.4_Silent_p.F332F|BLOC1S5-TXNDC5_ENST00000604490.1_Silent_p.F224F|TXNDC5_ENST00000473453.1_Silent_p.F224F	p.F260F			WXS	Illumina GAIIx	Phase_I					8	779	-								B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Silent	SNP	ENST00000379757.4	37	c.780C>T	CCDS4505.1																																																																																				0.423	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	NM_030810		14	19	0	0	0	1	0	14	19					A	7886244	G	A	7886244	2	1	48	1	0	0	0	0	0	0	0	1	16814	1049	37	1		1	TXNDC5	6	7886244	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	512644	7886244	163228823	1668	6136										
EEF1E1	9521	broad.mit.edu	37	chr6	8090502	8090502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtagactttatcttcaagatAtgaattaagatcctagaaaa	6	5	2	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:8090502A>G	ENST00000379715.5	-	3	357	c.301T>C	c.(301-303)Tat>Cat	p.Y101H	EEF1E1_ENST00000429723.2_Missense_Mutation_p.Y101H|EEF1E1_ENST00000507463.1_Missense_Mutation_p.Y101H|EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.Y101H	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	101	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)				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					TCTTCAAGATATGAATTAAGA	0.249																																						ENST00000379715.5																			0				endometrium(1)|prostate(1)	2						c.(301-303)Tat>Cat		eukaryotic translation elongation factor 1 epsilon 1							47	47	47					6																	8090502		2192	4284	6476	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.chr6:8090502A>G	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.301T>C	6.37:g.8090502A>G	ENSP00000369038:p.Tyr101His		Somatic				EEF1E1_ENST00000507463.1_Missense_Mutation_p.Y101H|EEF1E1_ENST00000429723.2_Missense_Mutation_p.Y101H|EEF1E1-MUTED_ENST00000397456.2_Missense_Mutation_p.Y101H	p.Y101H	NM_004280.4	NP_004271.1	WXS	Illumina GAIIx	Phase_I	O43324	MCA3_HUMAN			3	357	-	Ovarian(93;0.0398)		101			GST C-terminal.		C9JLK5|Q5THS2	Missense_Mutation	SNP	ENST00000379715.5	37	c.301T>C	CCDS4507.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.942051	0.53079	.	.	ENSG00000124802	ENST00000429723;ENST00000379715;ENST00000507463	T;T	0.06294	3.32;3.32	4.82	4.82	0.62117	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.124912	0.56097	D	0.000032	T	0.04048	0.0113	L	0.33093	0.98	0.49130	D	0.999756	P;P	0.45957	0.869;0.745	P;P	0.50352	0.638;0.635	T	0.51442	-0.8705	9	.	.	.	-14.0031	9.3489	0.38126	0.9071:0.0:0.0929:0.0	.	101;101	C9JLK5;O43324	.;MCA3_HUMAN	H	101	ENSP00000414363:Y101H;ENSP00000369038:Y101H	.	Y	-	1	0	EEF1E1	8035501	1.000000	0.71417	0.971000	0.41717	0.956000	0.61745	5.211000	0.65219	1.787000	0.52448	0.379000	0.24179	TAT		0.249	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039799.2	NM_004280		12	14	0	0	0	1	0	12	14					G	8090502	A	G	8090502	3	3	48	1	0	0	0	0	1	0	0	0	4929	449	16	4	271	4	EEF1E1	6	8090502	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	204258	8090502	163024565	1669	6137										
GCNT2	2651	broad.mit.edu	37	chr6	10556716	10556716	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctagtgtaattatttttatCgtcttctctgtgttcaattt	5	6	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:10556716C>T	ENST00000379597.3	+	1	1481				GCNT2_ENST00000316170.3_Silent_p.I20I|GCNT2_ENST00000410107.1_Intron|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)			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)		TTATTTTTATCGTCTTCTCTG	0.388																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(58-60)atC>atT		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							103	100	101					6																	10556716		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10556716C>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+26647C>T	6.37:g.10556716C>T			Somatic				GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron	p.I20I	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	477	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	21						Silent	SNP	ENST00000379597.3	37	c.60C>T	CCDS34338.1																																																																																				0.388	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		11	55	0	0	0	1	0	11	55					T	10556716	C	T	10556716	1	4	48	0	1	0	0	0	0	0	0	0	6309	874	31	1		1	GCNT2	6	10556716	Intron	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2466214	10556716	160558351	1670	6138										
GCNT2	2651	broad.mit.edu	37	chr6	10556860	10556860	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacaaactaatgatccatgaGaagtcttcttgcaaggaata	7	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:10556860G>T	ENST00000379597.3	+	1	1481				GCNT2_ENST00000316170.3_Missense_Mutation_p.E68D|GCNT2_ENST00000410107.1_Intron|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)			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)		TGATCCATGAGAAGTCTTCTT	0.413																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(202-204)gaG>gaT		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							131	124	127					6																	10556860		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10556860G>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+26791G>T	6.37:g.10556860G>T			Somatic				GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron	p.E68D	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	621	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	70						Missense_Mutation	SNP	ENST00000379597.3	37	c.204G>T	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	G	6.023	0.372555	0.11409	.	.	ENSG00000111846	ENST00000316170	T	0.42131	0.98	5.1	2.1	0.27182	.	.	.	.	.	T	0.13114	0.0318	L	0.40543	1.245	0.37319	D	0.909482	B	0.02656	0.0	B	0.06405	0.002	T	0.05402	-1.0887	9	0.29301	T	0.29	.	4.5552	0.12133	0.2423:0.3244:0.4333:0.0	.	68	Q06430	GNT2B_HUMAN	D	68	ENSP00000314844:E68D	ENSP00000314844:E68D	E	+	3	2	GCNT2	10664846	0.870000	0.30015	0.278000	0.24718	0.980000	0.70556	1.133000	0.31430	0.631000	0.30412	0.655000	0.94253	GAG		0.413	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		78	19	1	0	4.81439e-37	1	6.93071e-37	78	19					T	10556860	G	T	10556860	1	4	48	0	1	0	0	0	0	0	0	0	6309	933	33	2		2	GCNT2	6	10556860	Intron	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	144	10556860	160558207	1671	6139										
MAK	4117	broad.mit.edu	37	chr6	10796399	10796399	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaacctgatcgattatatcCggcagaggcttaggctctac	9	11	1	2	rs145014649	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:10796399C>T	ENST00000313243.2	-	9	1357	c.975G>A	c.(973-975)ccG>ccA	p.P325P	MAK_ENST00000538030.1_Silent_p.P325P|MAK_ENST00000474039.1_Silent_p.P325P|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000354489.2_Silent_p.P325P|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000536370.1_3'UTR			P20794	MAK_HUMAN	male germ cell-associated kinase	325	Glu/Pro-rich.		P -> L. {ECO:0000269|PubMed:21835304}.		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)				CGATTATATCCGGCAGAGGCT	0.483													C|||	3	0.000599042	0	0	5008	,	,		15519	0.001		0.002	False		,,,				2504	0					ENST00000313243.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22						c.(973-975)ccG>ccA		male germ cell-associated kinase		C	,	1,4405	2.1+/-5.4	0,1,2202	117	119	118		975,975	-0.8	0.8	6	dbSNP_134	118	11,8589	8.4+/-32.0	0,11,4289	no	coding-synonymous,coding-synonymous	MAK	NM_001242385.1,NM_005906.4	,	0,12,6491	TT,TC,CC		0.1279,0.0227,0.0923	,	325/584,325/624	10796399	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	4117				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	g.chr6:10796399C>T		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.975G>A	6.37:g.10796399C>T			Somatic				MAK_ENST00000536370.1_3'UTR|MAK_ENST00000474039.1_Silent_p.P325P|MAK_ENST00000354489.2_Silent_p.P325P|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_Silent_p.P325P|RP11-637O19.3_ENST00000480294.1_Intron	p.P325P			WXS	Illumina GAIIx	Phase_I	P20794	MAK_HUMAN			9	1357	-	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)	325			Glu/Pro-rich.		F1T0K6|G1FL29|Q547D0|Q9NUH7	Silent	SNP	ENST00000313243.2	37	c.975G>A	CCDS4516.1																																																																																				0.483	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		28	62	0	0	0	1	0	28	62					T	10796399	C	T	10796399	2	4	48	1	0	0	0	0	0	0	0	1	9206	639	23	1		1	MAK	6	10796399	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	239539	10796399	160318668	1672	6140										
MAK	4117	broad.mit.edu	37	chr6	10819165	10819165	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catcccaagaatagaactttCtcttcatcctaaaataaatt	2	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:10819165C>A	ENST00000313243.2	-	3	492	c.110G>T	c.(109-111)aGa>aTa	p.R37I	MAK_ENST00000538030.1_Missense_Mutation_p.R37I|MAK_ENST00000474039.1_Missense_Mutation_p.R37I|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.R37I|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000536370.1_Missense_Mutation_p.R37I			P20794	MAK_HUMAN	male germ cell-associated kinase	37	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				ATAGAACTTTCTCTTCATCCT	0.378																																						ENST00000313243.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22						c.(109-111)aGa>aTa		male germ cell-associated kinase							116	106	110					6																	10819165		2202	4299	6501	SO:0001583	missense	4117				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	g.chr6:10819165C>A		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.110G>T	6.37:g.10819165C>A	ENSP00000313021:p.Arg37Ile		Somatic				MAK_ENST00000536370.1_Missense_Mutation_p.R37I|MAK_ENST00000474039.1_Missense_Mutation_p.R37I|MAK_ENST00000354489.2_Missense_Mutation_p.R37I|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_Missense_Mutation_p.R37I|RP11-637O19.3_ENST00000480294.1_Intron	p.R37I			WXS	Illumina GAIIx	Phase_I	P20794	MAK_HUMAN			3	492	-	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)	37			Protein kinase.		F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	37	c.110G>T	CCDS4516.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904934	0.92035	.	.	ENSG00000111837	ENST00000313243;ENST00000354489;ENST00000538030;ENST00000536370	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	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);	0.087082	0.85682	D	0.000000	T	0.60366	0.2263	N	0.20401	0.57	0.80722	D	1	D	0.58970	0.984	D	0.65010	0.931	T	0.68187	-0.5475	10	0.72032	D	0.01	.	18.6683	0.91501	0.0:1.0:0.0:0.0	.	37	P20794	MAK_HUMAN	I	37	ENSP00000313021:R37I;ENSP00000346484:R37I;ENSP00000442250:R37I;ENSP00000442221:R37I	ENSP00000313021:R37I	R	-	2	0	MAK	10927151	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.243000	0.78219	2.413000	0.81919	0.655000	0.94253	AGA		0.378	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		7	4	1	0	0.000157383	1	0.000169016	7	4					A	10819165	C	A	10819165	3	1	48	1	0	0	0	0	1	0	0	0	9206	913	32	2	1809	2	MAK	6	10819165	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	22766	10819165	160295902	1673	6141										
TBC1D7	51256	broad.mit.edu	37	chr6	13327102	13327102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttctcataatatactgaaCgaaagtttctctgagagtcc	6	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:13327102C>T	ENST00000379300.3	-	2	272	c.29G>A	c.(28-30)cGt>cAt	p.R10H	TBC1D7_ENST00000356436.4_Missense_Mutation_p.R10H|TBC1D7_ENST00000379307.2_Missense_Mutation_p.R10H|TBC1D7_ENST00000607658.1_Missense_Mutation_p.R10H|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Missense_Mutation_p.R10H	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	10					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)			ATATACTGAACGAAAGTTTCT	0.383																																						ENST00000607658.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22						c.(28-30)cGt>cAt		TBC1 domain family, member 7							73	75	74					6																	13327102		2203	4300	6503	SO:0001583	missense	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13327102C>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.29G>A	6.37:g.13327102C>T	ENSP00000368602:p.Arg10His		Somatic				TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000379300.3_Missense_Mutation_p.R10H|TBC1D7_ENST00000356436.4_Missense_Mutation_p.R10H|TBC1D7_ENST00000343141.4_Missense_Mutation_p.R10H|TBC1D7_ENST00000379307.2_Missense_Mutation_p.R10H	p.R10H			WXS	Illumina GAIIx	Phase_I	Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		2	179	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	10					E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	c.29G>A	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	C	34	5.350345	0.95830	.	.	ENSG00000145979	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	0.72835	2.21;2.21;2.21;0.03;-0.19;0.27;0.27;2.21;0.42;0.16;2.21;2.21;-0.69	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.85093	0.5618	M	0.87180	2.865	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;0.996;1.0;0.999	D	0.86901	0.2054	10	0.87932	D	0	-17.2961	18.757	0.91836	0.0:1.0:0.0:0.0	.	10;10;10;10;10	Q2TU37;Q5JPB9;Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;.;.;TBCD7_HUMAN	H	10	ENSP00000401438:R10H;ENSP00000348813:R10H;ENSP00000368602:R10H;ENSP00000368609:R10H;ENSP00000343100:R10H;ENSP00000414292:R10H;ENSP00000404680:R10H;ENSP00000394425:R10H;ENSP00000417005:R10H;ENSP00000412102:R10H;ENSP00000414101:R10H;ENSP00000401339:R10H;ENSP00000368593:R10H	ENSP00000343100:R10H	R	-	2	0	TBC1D7	13435081	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.301000	0.78850	2.730000	0.93505	0.650000	0.86243	CGT		0.383	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		26	7	0	0	0	1	0	26	7					T	13327102	C	T	13327102	3	4	48	1	0	0	0	0	1	0	0	0	15639	536	19	1	880	1	TBC1D7	6	13327102	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2507937	13327102	157787965	1674	6142										
NUP153	9972	broad.mit.edu	37	chr6	17629400	17629400	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatttgggcagttcctctttCttttcttcctgtccaagatt	7	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:17629400C>T	ENST00000262077.2	-	18	3029	c.3030G>A	c.(3028-3030)aaG>aaA	p.K1010K	NUP153_ENST00000537253.1_Silent_p.K1041K	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1010					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTTCCTCTTTCTTTTCTTCCT	0.403																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(3028-3030)aaG>aaA		nucleoporin 153kDa							61	63	62					6																	17629400		2203	4299	6502	SO:0001819	synonymous_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17629400C>T	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.3030G>A	6.37:g.17629400C>T			Somatic				NUP153_ENST00000537253.1_Silent_p.K1041K	p.K1010K	NM_005124.2	NP_005115.2	WXS	Illumina GAIIx	Phase_I	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		18	3029	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	1010					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	c.3030G>A	CCDS4541.1																																																																																				0.403	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			10	44	0	0	0	1	0	10	44					T	17629400	C	T	17629400	2	4	48	1	0	0	0	0	0	0	0	1	10764	912	32	3		3	NUP153	6	17629400	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4302298	17629400	153485667	1675	6143										
SLC17A3	10786	broad.mit.edu	37	chr6	25850809	25850809	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaaatgggtagagatctgaGcatagctttgatgggaagag	14	5	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:25850809G>T	ENST00000360657.3	-	7	922	c.637C>A	c.(637-639)Ctc>Atc	p.L213I	SLC17A3_ENST00000361703.6_Missense_Mutation_p.L213I|SLC17A3_ENST00000397060.4_Missense_Mutation_p.L291I			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	213					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						AGAGATCTGAGCATAGCTTTG	0.428																																						ENST00000397060.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						c.(871-873)Ctc>Atc		solute carrier family 17 (organic anion transporter), member 3							135	123	127					6																	25850809		2203	4300	6503	SO:0001583	missense	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25850809G>T	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"Solute carriers"	10931	protein-coding gene	gene with protein product		611034	"solute carrier family 17 (sodium phosphate), member 3"			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.637C>A	6.37:g.25850809G>T	ENSP00000353873:p.Leu213Ile		Somatic				SLC17A3_ENST00000361703.6_Missense_Mutation_p.L213I|SLC17A3_ENST00000360657.3_Missense_Mutation_p.L213I	p.L291I	NM_001098486.1	NP_001091956.1	WXS	Illumina GAIIx	Phase_I	O00476	NPT4_HUMAN			8	980	-			213					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.871C>A	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	G	1.294	-0.606889	0.03717	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.63744	-0.06;-0.06;-0.06	3.53	-2.07	0.07276	Major facilitator superfamily domain, general substrate transporter (1);	0.936276	0.08777	N	0.895245	T	0.42810	0.1219	L	0.49256	1.55	0.21527	N	0.999659	B;B;B	0.30068	0.204;0.267;0.184	B;B;B	0.42625	0.256;0.393;0.17	T	0.57230	-0.7847	10	0.40728	T	0.16	.	9.1918	0.37204	0.0:0.4026:0.481:0.1164	.	213;291;213	B7Z531;B7Z511;O00476	.;.;NPT4_HUMAN	I	291;213;213	ENSP00000380250:L291I;ENSP00000353873:L213I;ENSP00000355307:L213I	ENSP00000353873:L213I	L	-	1	0	SLC17A3	25958788	0.000000	0.05858	0.014000	0.15608	0.105000	0.19272	-0.896000	0.04114	-0.481000	0.06792	0.585000	0.79938	CTC		0.428	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			37	14	1	0	7.04047e-22	1	9.7605e-22	37	14					T	25850809	G	T	25850809	3	4	48	1	0	0	0	0	1	0	0	0	14433	971	34	5	645	5	SLC17A3	6	25850809	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	8221409	25850809	145264258	1676	6144										
HIST1H4D	8360	broad.mit.edu	37	chr6	26189200	26189200	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgcggcgagccaggcggcgGatagcgggcttggtgattcc	18	12	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:26189200G>A	ENST00000340756.2	-	1	104	c.105C>T	c.(103-105)atC>atT	p.I35I		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	35					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				CCAGGCGGCGGATAGCGGGCT	0.572																																						ENST00000340756.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8						c.(103-105)atC>atT		histone cluster 1, H4d							39	45	43					6																	26189200		2203	4300	6503	SO:0001819	synonymous_variant	8360				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26189200G>A	X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157		"Histones / Replication-dependent"	4782	protein-coding gene	gene with protein product		602823	"H4 histone family, member B", "histone 1, H4d"	H4FB		9119399, 12408966	Standard	NM_003539		Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.105C>T	6.37:g.26189200G>A			Somatic					p.I35I	NM_003539.3	NP_003530.1	WXS	Illumina GAIIx	Phase_I	P62805	H4_HUMAN			1	104	-		all_hematologic(11;0.196)	35					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000340756.2	37	c.105C>T	CCDS4589.1																																																																																				0.572	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040085.1	NM_003539		57	21	0	0	0	1	0	57	21					A	26189200	G	A	26189200	2	1	48	1	0	0	0	0	0	0	0	1	7177	1164	41	3		3	HIST1H4D	6	26189200	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	338391	26189200	144925867	1677	6145										
BTN3A2	11118	broad.mit.edu	37	chr6	26373245	26373245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaacagaaggaaataactgCtctgtccagtgagatagaaa	9	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:26373245C>T	ENST00000356386.2	+	6	1024	c.836C>T	c.(835-837)gCt>gTt	p.A279V	BTN3A2_ENST00000396948.1_Missense_Mutation_p.A279V|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A279V|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000527422.1_Missense_Mutation_p.A279V|BTN3A2_ENST00000508906.2_Missense_Mutation_p.A237V|BTN3A2_ENST00000396934.3_Missense_Mutation_p.A256V	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	279					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						GAAATAACTGCTCTGTCCAGT	0.512																																						ENST00000356386.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						c.(835-837)gCt>gTt		butyrophilin, subfamily 3, member A2							101	99	100					6																	26373245		2203	4300	6503	SO:0001583	missense	11118					integral to membrane		g.chr6:26373245C>T	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.836C>T	6.37:g.26373245C>T	ENSP00000348751:p.Ala279Val		Somatic				BTN3A2_ENST00000396934.3_Missense_Mutation_p.A256V|BTN3A2_ENST00000396948.1_Missense_Mutation_p.A279V|BTN3A2_ENST00000508906.2_Missense_Mutation_p.A237V|BTN3A2_ENST00000527422.1_Missense_Mutation_p.A279V|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A279V	p.A279V	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			6	1024	+			279					B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	c.836C>T	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	c	5.661	0.306626	0.10733	.	.	ENSG00000186470	ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T	0.03496	4.05;4.05;3.91;4.05;4.05;4.47	0.744	-0.781	0.10965	.	.	.	.	.	T	0.00784	0.0026	L	0.31664	0.95	0.09310	N	1	B;B	0.20671	0.047;0.028	B;B	0.16289	0.015;0.012	T	0.46373	-0.9196	8	0.27082	T	0.32	.	.	.	.	.	256;279	F8W6E0;P78410	.;BT3A2_HUMAN	V	279;279;279;256;279;279;237	ENSP00000432138:A279V;ENSP00000348751:A279V;ENSP00000380140:A256V;ENSP00000366937:A279V;ENSP00000380152:A279V;ENSP00000442687:A237V	ENSP00000348751:A279V	A	+	2	0	BTN3A2	26481224	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.969000	0.03813	-0.289000	0.09038	0.411000	0.27672	GCT		0.512	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			28	58	0	0	0	1	0	28	58					T	26373245	C	T	26373245	3	4	48	1	0	0	0	0	1	0	0	0	1565	797	28	3	850	3	BTN3A2	6	26373245	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	184045	26373245	144741822	1678	6146										
BTN3A1	11119	broad.mit.edu	37	chr6	26413752	26413752	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaacttcctaagccccctaaGaaagtgggggtcttcctgga	10	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:26413752G>T	ENST00000289361.6	+	10	1742	c.1374G>T	c.(1372-1374)aaG>aaT	p.K458N	BTN3A1_ENST00000414912.2_Missense_Mutation_p.K406N	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	458	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGCCCCCTAAGAAAGTGGGGG	0.478																																						ENST00000289361.6																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1372-1374)aaG>aaT		butyrophilin, subfamily 3, member A1							128	126	127					6																	26413752		2203	4300	6503	SO:0001583	missense	0				lipid metabolic process	integral to membrane		g.chr6:26413752G>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.1374G>T	6.37:g.26413752G>T	ENSP00000289361:p.Lys458Asn		Somatic				BTN3A1_ENST00000414912.2_Missense_Mutation_p.K406N	p.K458N	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			10	1742	+			458			B30.2/SPRY.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	c.1374G>T	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	7.751	0.703295	0.15172	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.69435	-0.4;-0.4	2.31	-4.61	0.03380	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	0.22936	0.0554	N	0.21508	0.67	0.09310	N	1	B;B	0.27316	0.174;0.175	B;B	0.31686	0.134;0.09	T	0.23154	-1.0196	9	0.45353	T	0.12	.	2.2126	0.03952	0.1862:0.2189:0.4468:0.1482	.	406;458	E9PGB4;O00481	.;BT3A1_HUMAN	N	458;406	ENSP00000289361:K458N;ENSP00000406667:K406N	ENSP00000289361:K458N	K	+	3	2	BTN3A1	26521731	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.059000	0.01393	-1.609000	0.01585	-0.466000	0.05196	AAG		0.478	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			71	39	1	0	3.28615e-30	1	4.69343e-30	71	39					T	26413752	G	T	26413752	3	4	48	1	0	0	0	0	1	0	0	0	1564	933	33	2	1576	2	BTN3A1	6	26413752	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	40507	26413752	144701315	1679	6147										
BTN1A1	696	broad.mit.edu	37	chr6	26508797	26508797	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgaggattcaaaatctgttCgactggaagattcacgtcag	10	7	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:26508797C>T	ENST00000244513.6	+	7	1042	c.976C>T	c.(976-978)Cga>Tga	p.R326*		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	326	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AAAATCTGTTCGACTGGAAGA	0.483																																						ENST00000244513.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						c.(976-978)Cga>Tga		butyrophilin, subfamily 1, member A1							165	165	165					6																	26508797		2203	4300	6503	SO:0001587	stop_gained	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26508797C>T	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.976C>T	6.37:g.26508797C>T	ENSP00000244513:p.Arg326*		Somatic					p.R326*	NM_001732.2	NP_001723.2	WXS	Illumina GAIIx	Phase_I	Q13410	BT1A1_HUMAN			7	1042	+			326			B30.2/SPRY.		Q4VAN3|Q4VAN4|Q9H458	Nonsense_Mutation	SNP	ENST00000244513.6	37	c.976C>T	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266828	0.59540	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	.	.	.	5.33	2.1	0.27182	.	0.803125	0.10665	N	0.648197	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.4595	0.07527	0.2188:0.4985:0.0:0.2827	.	.	.	.	X	326	.	ENSP00000244513:R326X	R	+	1	2	BTN1A1	26616776	0.000000	0.05858	0.135000	0.22099	0.352000	0.29268	-0.474000	0.06607	0.740000	0.32651	0.655000	0.94253	CGA		0.483	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		7	180	0	0	0	1	0	7	180					T	26508797	C	T	26508797	4	4	48	1	0	0	0	0	0	1	0	0	1561	876	31	1	1002	1	BTN1A1	6	26508797	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	95045	26508797	144606270	1680	6148										
ZNF391	346157	broad.mit.edu	37	chr6	27369039	27369039	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtctcttacagaacatcagaGaatccacagtggagaaaagc	9	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:27369039G>T	ENST00000244576.4	+	3	1435	c.890G>T	c.(889-891)aGa>aTa	p.R297I	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	297					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)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GAACATCAGAGAATCCACAGT	0.478																																						ENST00000244576.4																			0				endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(889-891)aGa>aTa		zinc finger protein 391							71	78	75					6																	27369039		2141	4275	6416	SO:0001583	missense	346157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27369039G>T	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"Zinc fingers, C2H2-type"	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.890G>T	6.37:g.27369039G>T	ENSP00000244576:p.Arg297Ile		Somatic					p.R297I	NM_001076781.1	NP_001070249.1	WXS	Illumina GAIIx	Phase_I	Q9UJN7	ZN391_HUMAN			3	1435	+			297					B4DH77	Missense_Mutation	SNP	ENST00000244576.4	37	c.890G>T	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579243	0.65878	.	.	ENSG00000124613	ENST00000244576	T	0.24908	1.83	3.91	3.03	0.35002	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37046	0.0989	M	0.81942	2.565	0.45690	D	0.998605	D	0.89917	1.0	D	0.81914	0.995	T	0.27054	-1.0085	9	0.59425	D	0.04	.	8.728	0.34480	0.1159:0.0:0.8841:0.0	.	297	Q9UJN7	ZN391_HUMAN	I	297	ENSP00000244576:R297I	ENSP00000244576:R297I	R	+	2	0	ZNF391	27477018	0.031000	0.19500	0.994000	0.49952	0.975000	0.68041	2.052000	0.41316	0.610000	0.30035	0.557000	0.71058	AGA		0.478	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		21	34	1	0	1.87028e-06	1	2.10206e-06	21	34					T	27369039	G	T	27369039	3	4	48	1	0	0	0	0	1	0	0	0	17894	942	33	2	892	2	ZNF391	6	27369039	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	860242	27369039	143746028	1681	6149										
HIST1H2BO	8348	broad.mit.edu	37	chr6	27861429	27861429	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgaaggccatgggcatcatGaactccttcgtcaatgacat	9	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:27861429G>T	ENST00000303806.4	+	1	227	c.189G>T	c.(187-189)atG>atT	p.M63I	HIST1H3J_ENST00000359303.2_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	63					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										TGGGCATCATGAACTCCTTCG	0.562																																						ENST00000303806.4																			0											c.(187-189)atG>atT		histone cluster 1, H2bo							155	140	145					6																	27861429		2203	4300	6503	SO:0001583	missense	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861429G>T	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.189G>T	6.37:g.27861429G>T	ENSP00000303408:p.Met63Ile		Somatic					p.M63I	NM_003527.4	NP_003518.2	WXS	Illumina GAIIx	Phase_I	P23527	H2B1O_HUMAN			1	227	+			63					Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	c.189G>T	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541780	0.65198	.	.	ENSG00000196331	ENST00000303806	T	0.69306	-0.39	3.51	3.51	0.40186	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.63283	0.2498	M	0.84511	2.7	0.46113	D	0.998874	B	0.24533	0.105	B	0.30029	0.11	T	0.72554	-0.4258	9	0.72032	D	0.01	.	14.8991	0.70664	0.0:0.0:1.0:0.0	.	63	P23527	H2B1O_HUMAN	I	63	ENSP00000303408:M63I	ENSP00000303408:M63I	M	+	3	0	HIST1H2BO	27969408	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	9.029000	0.93718	2.270000	0.75569	0.556000	0.70494	ATG		0.562	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		25	223	1	0	1.85244e-09	1	2.22951e-09	25	223					T	27861429	G	T	27861429	3	4	48	1	0	0	0	0	1	0	0	0	7163	1290	45	2	191	2	HIST1H2BO	6	27861429	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	492390	27861429	143253638	1682	6150										
ZNF192	7745	broad.mit.edu	37	chr6	28120090	28120090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccttattcgagaggagtggCttcttgatccatcacagaag	10	10	2	3	rs373001897		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:28120090C>T	ENST00000330236.6	+	5	887	c.703C>T	c.(703-705)Ctt>Ttt	p.L235F	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.L235F	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	235	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)										AGAGGAGTGGCTTCTTGATCC	0.448																																						ENST00000330236.6																			0											c.(703-705)Ctt>Ttt		zinc finger with KRAB and SCAN domains 8							141	141	141					6																	28120090		2203	4300	6503	SO:0001583	missense	0							g.chr6:28120090C>T		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"Zinc fingers, C2H2-type", "-", "-", "-"	12983	protein-coding gene	gene with protein product		602240	"zinc finger protein 192"	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.703C>T	6.37:g.28120090C>T	ENSP00000332750:p.Leu235Phe		Somatic				ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.L235F	p.L235F	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	WXS	Illumina GAIIx	Phase_I					5	887	+								A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	ENST00000330236.6	37	c.703C>T	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	C	8.272	0.813594	0.16537	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	T;T	0.02177	4.41;4.41	5.32	4.43	0.53597	Krueppel-associated box (4);	0.000000	0.51477	D	0.000098	T	0.01835	0.0058	L	0.49778	1.585	0.80722	D	1	P	0.38250	0.624	B	0.41860	0.368	T	0.55068	-0.8198	10	0.56958	D	0.05	.	12.6571	0.56793	0.3001:0.6999:0.0:0.0	.	235	Q15776	ZN192_HUMAN	F	235	ENSP00000332750:L235F;ENSP00000402948:L235F	ENSP00000332750:L235F	L	+	1	0	ZNF192	28228069	0.032000	0.19561	1.000000	0.80357	0.995000	0.86356	0.114000	0.15520	1.525000	0.49052	0.563000	0.77884	CTT		0.448	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			31	62	0	0	0	1	0	31	62					T	28120090	C	T	28120090	3	4	48	1	0	0	0	0	1	0	0	0	17771	797	28	3	717	3	ZNF192	6	28120090	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	258661	28120090	142994977	1683	6151										
ZKSCAN4	387032	broad.mit.edu	37	chr6	28217588	28217588	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catcttgcaacagagcagttCttgcccctggtcaccaacgg	9	14	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:28217588C>A	ENST00000377294.2	-	2	691	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	ZKSCAN4_ENST00000423974.2_5'UTR	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	150					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)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CAGAGCAGTTCTTGCCCCTGG	0.448																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(448-450)Gaa>Taa		zinc finger with KRAB and SCAN domains 4							229	210	216					6																	28217588		2203	4300	6503	SO:0001587	stop_gained	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28217588C>A	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"Zinc fingers, C2H2-type", "-", "-", "-"	13854	protein-coding gene	gene with protein product		611643	"zinc finger protein 307", "zinc finger protein 427"	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.448G>T	6.37:g.28217588C>A	ENSP00000366509:p.Glu150*		Somatic				ZKSCAN4_ENST00000423974.2_5'UTR	p.E150*	NM_019110.3	NP_061983.2	WXS	Illumina GAIIx	Phase_I	Q969J2	ZKSC4_HUMAN			2	691	-			150					B2RE32|Q5U7L4	Nonsense_Mutation	SNP	ENST00000377294.2	37	c.448G>T	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403434	0.62288	.	.	ENSG00000187626	ENST00000377294	.	.	.	4.02	2.13	0.27403	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999989	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	6.5794	0.22585	0.0:0.7484:0.0:0.2516	.	.	.	.	X	150	.	ENSP00000366509:E150X	E	-	1	0	ZKSCAN4	28325567	0.005000	0.15991	0.008000	0.14137	0.158000	0.22134	0.624000	0.24462	0.364000	0.24374	0.655000	0.94253	GAA		0.448	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		97	33	1	0	7.47877e-49	1	1.08552e-48	97	33					A	28217588	C	A	28217588	4	1	48	1	0	0	0	0	0	1	0	0	17704	922	32	2	1205	2	ZKSCAN4	6	28217588	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	97498	28217588	142897479	1684	6152										
GPX6	257202	broad.mit.edu	37	chr6	28472164	28472164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgcatgacagggactccatCgggccccaccagaaatttct	9	13	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:28472164C>T	ENST00000361902.1	-	5	620	c.571G>A	c.(571-573)Gat>Aat	p.D191N	GPX6_ENST00000474923.1_Silent_p.P157P|GPX6_ENST00000483058.1_5'Flank	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	191					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GGGACTCCATCGGGCCCCACC	0.517																																						ENST00000361902.1																			0				NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(571-573)Gat>Aat		glutathione peroxidase 6 (olfactory)	Glutathione(DB00143)						101	98	99					6																	28472164		1987	4195	6182	SO:0001583	missense	257202				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28472164C>T		CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"glutathione peroxidase pseudogene 3"	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000361902.1:c.571G>A	6.37:g.28472164C>T	ENSP00000354581:p.Asp191Asn		Somatic				GPX6_ENST00000474923.1_Silent_p.P157P	p.D191N	NM_182701.1	NP_874360.1	WXS	Illumina GAIIx	Phase_I	P59796	GPX6_HUMAN			5	620	-			191					Q4PJ17	Missense_Mutation	SNP	ENST00000361902.1	37	c.571G>A	CCDS43432.1	.	.	.	.	.	.	.	.	.	.	C	8.088	0.773865	0.16051	.	.	ENSG00000198704	ENST00000361902	T	0.04119	3.7	4.4	-0.679	0.11350	Thioredoxin-like fold (2);	0.306169	0.38111	N	0.001809	T	0.01592	0.0051	L	0.52364	1.645	0.44316	D	0.997199	B	0.14012	0.009	B	0.10450	0.005	T	0.41251	-0.9519	10	0.41790	T	0.15	-17.9556	5.651	0.17616	0.0:0.5305:0.1368:0.3327	.	191	P59796	GPX6_HUMAN	N	191	ENSP00000354581:D191N	ENSP00000354581:D191N	D	-	1	0	GPX6	28580143	0.006000	0.16342	0.043000	0.18650	0.077000	0.17291	0.214000	0.17541	-0.158000	0.11040	-1.073000	0.02249	GAT		0.517	GPX6-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000104340.1			17	48	0	0	0	1	0	17	48					T	28472164	C	T	28472164	3	4	48	1	0	0	0	0	1	0	0	0	6753	884	31	1	98	1	GPX6	6	28472164	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	254576	28472164	142642903	1685	6153										
SCAND3	114821	broad.mit.edu	37	chr6	28543364	28543364	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taagatctacttggcatcttGaactaacttccttaattgat	5	8	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:28543364G>T	ENST00000452236.2	-	3	1735	c.1118C>A	c.(1117-1119)tCa>tAa	p.S373*	SCAND3_ENST00000530247.1_5'Flank	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						TTGGCATCTTGAACTAACTTC	0.338																																						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.(1117-1119)tCa>tAa		SCAN domain containing 3							114	117	116					6																	28543364		2203	4300	6503	SO:0001587	stop_gained	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543364G>T																												ENST00000452236.2:c.1118C>A	6.37:g.28543364G>T	ENSP00000395259:p.Ser373*		Somatic					p.S373*	NM_052923.1	NP_443155.1	WXS	Illumina GAIIx	Phase_I	Q6R2W3	SCND3_HUMAN			3	1735	-			373			Integrase catalytic.			Nonsense_Mutation	SNP	ENST00000452236.2	37	c.1118C>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	41	8.759941	0.98943	.	.	ENSG00000232040	ENST00000452236	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6309	0.45536	0.0:0.0:1.0:0.0	.	.	.	.	X	373	.	ENSP00000395259:S373X	S	-	2	0	SCAND3	28651343	0.999000	0.42202	0.978000	0.43139	0.998000	0.95712	2.230000	0.42999	1.935000	0.56089	0.655000	0.94253	TCA		0.338	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			66	33	1	0	4.49795e-14	1	5.82898e-14	66	33					T	28543364	G	T	28543364	4	4	48	1	0	0	0	0	0	1	0	0	13891	1294	45	2	2867	2	SCAND3	6	28543364	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	71200	28543364	142571703	1686	6154										
OR14J1	442191	broad.mit.edu	37	chr6	29275214	29275214	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatttgtagccaccttctttCtttcagctgcaggctttgag	8	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:29275214C>A	ENST00000377160.2	+	1	812	c.748C>A	c.(748-750)Ctt>Att	p.L250I		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, 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)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CACCTTCTTTCTTTCAGCTGC	0.488																																						ENST00000377160.2																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						c.(748-750)Ctt>Att		olfactory receptor, family 14, subfamily J, member 1							172	169	170					6																	29275214		1511	2709	4220	SO:0001583	missense	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29275214C>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.748C>A	6.37:g.29275214C>A	ENSP00000366365:p.Leu250Ile		Somatic					p.L250I	NM_030946.1	NP_112208.1	WXS	Illumina GAIIx	Phase_I	Q9UGF5	O14J1_HUMAN			1	812	+			250					A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	c.748C>A	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	C	5.502	0.277683	0.10403	.	.	ENSG00000204695	ENST00000377160	T	0.37411	1.2	4.58	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.214573	0.23439	N	0.048169	T	0.10165	0.0249	L	0.42245	1.32	0.09310	N	1	B	0.29378	0.243	B	0.31812	0.136	T	0.23261	-1.0193	10	0.21540	T	0.41	.	4.2887	0.10867	0.1619:0.5379:0.0:0.3002	.	250	Q9UGF5	O14J1_HUMAN	I	250	ENSP00000366365:L250I	ENSP00000366365:L250I	L	+	1	0	OR14J1	29383193	0.000000	0.05858	0.222000	0.23844	0.202000	0.24057	0.844000	0.27654	0.626000	0.30322	-0.143000	0.13931	CTT		0.488	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			58	107	1	0	8.72158e-25	1	1.22634e-24	58	107					A	29275214	C	A	29275214	3	1	48	1	0	0	0	0	1	0	0	0	10957	913	32	2	750	2	OR14J1	6	29275214	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	731850	29275214	141839853	1687	6155										
GABBR1	2550	broad.mit.edu	37	chr6	29577119	29577119	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgacaggaagcggaatgtCttgatgaccagggtctggtc	15	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:29577119C>A	ENST00000377034.4	-	15	2081	c.1746G>T	c.(1744-1746)aaG>aaT	p.K582N	GABBR1_ENST00000377012.4_Missense_Mutation_p.K465N|GABBR1_ENST00000377016.4_Missense_Mutation_p.K520N|GABBR1_ENST00000355973.3_Missense_Mutation_p.K465N|GABBR1_ENST00000376977.3_Intron	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	582					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	AGCGGAATGTCTTGATGACCA	0.527																																						ENST00000377034.4																			0				endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1744-1746)aaG>aaT		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)						104	85	92					6																	29577119		1511	2709	4220	SO:0001583	missense	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29577119C>A	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1746G>T	6.37:g.29577119C>A	ENSP00000366233:p.Lys582Asn		Somatic				GABBR1_ENST00000377012.4_Missense_Mutation_p.K465N|GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000355973.3_Missense_Mutation_p.K465N|GABBR1_ENST00000377016.4_Missense_Mutation_p.K520N	p.K582N	NM_001470.2	NP_001461.1	WXS	Illumina GAIIx	Phase_I	Q9UBS5	GABR1_HUMAN			15	2081	-			582					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.1746G>T	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.748086	0.30955	.	.	ENSG00000204681	ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;T	0.83419	-1.72;-1.64;-1.72;-0.5	5.93	5.93	0.95920	.	0.344653	0.32147	N	0.006503	T	0.64136	0.2571	L	0.34521	1.04	0.80722	D	1	B;B;B	0.20887	0.043;0.049;0.049	B;B;B	0.21360	0.034;0.014;0.01	T	0.60188	-0.7312	10	0.27082	T	0.32	-40.0518	12.7496	0.57300	0.1638:0.8362:0.0:0.0	.	520;582;465	Q9UBS5-3;Q9UBS5;Q5SUJ9	.;GABR1_HUMAN;.	N	465;520;465;582	ENSP00000348248:K465N;ENSP00000366215:K520N;ENSP00000366211:K465N;ENSP00000366233:K582N	ENSP00000348248:K465N	K	-	3	2	GABBR1	29685098	0.895000	0.30542	1.000000	0.80357	0.998000	0.95712	-0.060000	0.11712	2.826000	0.97356	0.655000	0.94253	AAG		0.527	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			49	12	1	0	1.51926e-22	1	2.11298e-22	49	12					A	29577119	C	A	29577119	3	1	48	1	0	0	0	0	1	0	0	0	6163	912	32	2	1175	2	GABBR1	6	29577119	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	301905	29577119	141537948	1688	6156										
MOG	4340	broad.mit.edu	37	chr6	29627126	29627126	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtgataggaccaagacaccCtatccgggctctggtcgggg	14	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:29627126C>A	ENST00000376917.3	+	2	348	c.119C>A	c.(118-120)cCt>cAt	p.P40H	MOG_ENST00000533330.2_Missense_Mutation_p.P40H|MOG_ENST00000490427.1_Intron|MOG_ENST00000494692.1_Missense_Mutation_p.P40H|MOG_ENST00000416766.2_Missense_Mutation_p.P40H|MOG_ENST00000396701.2_Missense_Mutation_p.P40H|MOG_ENST00000376898.3_Missense_Mutation_p.P40H|MOG_ENST00000376894.4_Missense_Mutation_p.P40H|MOG_ENST00000376891.4_Missense_Mutation_p.P40H|MOG_ENST00000376902.3_Missense_Mutation_p.P40H|MOG_ENST00000483013.1_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.P40H|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000431798.2_Missense_Mutation_p.P40H	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	40	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						CCAAGACACCCTATCCGGGCT	0.547																																						ENST00000376894.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(118-120)cCt>cAt		myelin oligodendrocyte glycoprotein							197	218	210					6																	29627126		1511	2709	4220	SO:0001583	missense	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627126C>A		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.119C>A	6.37:g.29627126C>A	ENSP00000366115:p.Pro40His		Somatic				MOG_ENST00000483013.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376917.3_Missense_Mutation_p.P40H|MOG_ENST00000376891.4_Missense_Mutation_p.P40H|MOG_ENST00000431798.2_Missense_Mutation_p.P40H|MOG_ENST00000490427.1_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.P40H|MOG_ENST00000416766.2_Missense_Mutation_p.P40H|MOG_ENST00000376898.3_Missense_Mutation_p.P40H|MOG_ENST00000396701.2_Missense_Mutation_p.P40H|MOG_ENST00000533330.2_Missense_Mutation_p.P40H|MOG_ENST00000494692.1_Missense_Mutation_p.P40H|MOG_ENST00000376902.3_Missense_Mutation_p.P40H|MOG_ENST00000376888.2_Intron	p.P40H			WXS	Illumina GAIIx	Phase_I	Q16653	MOG_HUMAN			2	237	+			40			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	Missense_Mutation	SNP	ENST00000376917.3	37	c.119C>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465469	0.43839	.	.	ENSG00000204655	ENST00000376917;ENST00000376902;ENST00000533330;ENST00000376894;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.87	5.01	0.66863	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.104849	0.43416	D	0.000579	T	0.42337	0.1198	M	0.74258	2.255	0.23260	N	0.99802	D;D;D;D;D;D;D;P;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.937;1.0;0.911	D;D;D;D;D;D;D;P;D;P	0.97110	1.0;0.999;0.999;1.0;0.999;0.999;1.0;0.738;0.993;0.865	T	0.41770	-0.9490	10	0.59425	D	0.04	.	12.6547	0.56782	0.0:0.9202:0.0:0.0798	.	40;40;40;40;40;40;40;40;40;40	C9JTE0;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-10;Q5SUK5	.;.;.;.;.;.;MOG_HUMAN;.;.;.	H	40	ENSP00000366115:P40H;ENSP00000366100:P40H;ENSP00000431709:P40H;ENSP00000366091:P40H;ENSP00000409394:P40H;ENSP00000366088:P40H;ENSP00000366095:P40H;ENSP00000410866:P40H;ENSP00000379929:P40H;ENSP00000417405:P40H;ENSP00000379932:P40H	ENSP00000366088:P40H	P	+	2	0	MOG	29735105	0.324000	0.24652	0.090000	0.20809	0.291000	0.27294	1.399000	0.34566	1.489000	0.48450	0.655000	0.94253	CCT		0.547	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		14	182	1	0	3.41278e-10	1	4.16994e-10	14	182					A	29627126	C	A	29627126	3	1	48	1	0	0	0	0	1	0	0	0	9702	681	24	5	125	5	MOG	6	29627126	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	50007	29627126	141487941	1689	6157										
TRIM31	11074	broad.mit.edu	37	chr6	30080518	30080518	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggtgacaggtttctgcagaAtgtccaggcagatggggcag	16	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:30080518A>C	ENST00000376734.3	-	2	190	c.65T>G	c.(64-66)aTt>aGt	p.I22S	TRIM31_ENST00000540829.1_Missense_Mutation_p.I22S|TRIM31_ENST00000485864.1_5'Flank|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	22					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						TTTCTGCAGAATGTCCAGGCA	0.483																																						ENST00000376734.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						c.(64-66)aTt>aGt		tripartite motif containing 31							98	101	100					6																	30080518		1509	2708	4217	SO:0001583	missense	11074					mitochondrion	ligase activity|zinc ion binding	g.chr6:30080518A>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.65T>G	6.37:g.30080518A>C	ENSP00000365924:p.Ile22Ser		Somatic				TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.I22S	p.I22S	NM_007028.3	NP_008959.3	WXS	Illumina GAIIx	Phase_I	Q9BZY9	TRI31_HUMAN			2	190	-			22					A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	37	c.65T>G	CCDS34374.1	.	.	.	.	.	.	.	.	.	.	A	9.165	1.019592	0.19355	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.08546	3.08;3.08	3.89	-0.338	0.12651	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.35291	N	0.003303	T	0.02494	0.0076	N	0.04636	-0.2	0.09310	N	1	D	0.61697	0.99	D	0.66979	0.948	T	0.40942	-0.9536	10	0.34782	T	0.22	.	3.5302	0.07774	0.4062:0.0:0.11:0.4838	.	22	Q9BZY9	TRI31_HUMAN	S	22	ENSP00000365924:I22S;ENSP00000444311:I22S	ENSP00000365918:I22S	I	-	2	0	TRIM31	30188497	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.707000	0.05041	0.157000	0.19338	0.448000	0.29417	ATT		0.483	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			61	23	0	0	0	1	0	61	23					C	30080518	A	C	30080518	3	2	48	1	0	0	0	0	1	0	0	0	16520	101	4	4	1244	4	TRIM31	6	30080518	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	453392	30080518	141034549	1690	6158										
MDC1	9656	broad.mit.edu	37	chr6	30673581	30673581	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtggaggtggaagggtgggGctcaggggcagcagaggtag	23	4	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:30673581G>A	ENST00000376406.3	-	10	4026	c.3379C>T	c.(3379-3381)Ccc>Tcc	p.P1127S	MDC1_ENST00000376405.2_Missense_Mutation_p.P863S|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1127	Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GAAGGGTGGGGCTCAGGGGCA	0.567								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(3379-3381)Ccc>Tcc	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							127	144	139					6																	30673581		2203	4300	6503	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.chr6:30673581G>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.3379C>T	6.37:g.30673581G>A	ENSP00000365588:p.Pro1127Ser		Somatic				MDC1_ENST00000376405.2_Missense_Mutation_p.P863S|MDC1-AS1_ENST00000442150.1_RNA	p.P1127S	NM_014641.2	NP_055456.2	WXS	Illumina GAIIx	Phase_I	Q14676	MDC1_HUMAN			10	4026	-			1127	Missing (in Ref. 2; CAH18685).		Pro-rich.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.3379C>T	CCDS34384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.844|8.844	0.942904|0.942904	0.18281|0.18281	.|.	.|.	ENSG00000137337|ENSG00000137337	ENST00000417033|ENST00000376406;ENST00000376405;ENST00000422104	.|T;T	.|0.12569	.|2.67;2.67	3.33|3.33	1.5|1.5	0.22942|0.22942	.|.	.|0.494819	.|0.15223	.|N	.|0.273816	T|T	0.03564|0.03564	0.0102|0.0102	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B	.|0.32753	.|0.383;0.021	.|B;B	.|0.42738	.|0.396;0.038	T|T	0.43718|0.43718	-0.9374|-0.9374	5|10	.|0.08837	.|T	.|0.75	-0.7103|-0.7103	4.2848|4.2848	0.10850|0.10850	0.1233:0.0:0.6545:0.2223|0.1233:0.0:0.6545:0.2223	.|.	.|863;1127	.|Q14676-2;Q14676	.|.;MDC1_HUMAN	V|S	187|1127;863;734	.|ENSP00000365588:P1127S;ENSP00000365587:P863S	.|ENSP00000365587:P863S	A|P	-|-	2|1	0|0	MDC1|MDC1	30781560|30781560	.|.	.|.	0.000000|0.000000	0.03702|0.03702	0.914000|0.914000	0.54420|0.54420	.|.	.|.	0.414000|0.414000	0.25790|0.25790	0.423000|0.423000	0.28283|0.28283	GCC|CCC		0.567	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		6	220	0	0	0	1	0	6	220					A	30673581	G	A	30673581	3	1	48	1	0	0	0	0	1	0	0	0	9412	1203	42	3	2914	3	MDC1	6	30673581	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	593063	30673581	140441486	1691	6159										
DDR1	780	broad.mit.edu	37	chr6	30859254	30859254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatgacggacataccgtgggCgggtaagaaaggcccctgca	14	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:30859254C>T	ENST00000324771.8	+	8	1211	c.663C>T	c.(661-663)ggC>ggT	p.G221G	DDR1_ENST00000452441.1_Silent_p.G221G|DDR1_ENST00000513240.1_Silent_p.G221G|DDR1_ENST00000418800.2_Silent_p.G221G|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000508312.1_Silent_p.G239G|DDR1_ENST00000454612.2_Silent_p.G221G|DDR1_ENST00000446312.1_Intron|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000376570.4_Silent_p.G221G|DDR1_ENST00000376568.3_Silent_p.G221G|DDR1_ENST00000376569.3_Silent_p.G221G|DDR1_ENST00000376567.2_Silent_p.G221G|DDR1_ENST00000376575.3_Silent_p.G221G|MIR4640_ENST00000581824.1_RNA			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	221	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)	ATACCGTGGGCGGGTAAGAAA	0.557																																						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.(661-663)ggC>ggT		discoidin domain receptor tyrosine kinase 1	Imatinib(DB00619)						54	49	51					6																	30859254		1510	2708	4218	SO:0001819	synonymous_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30859254C>T	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.663C>T	6.37:g.30859254C>T			Somatic				DDR1_ENST00000446312.1_Intron|DDR1_ENST00000452441.1_Silent_p.G221G|DDR1_ENST00000376568.3_Silent_p.G221G|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000376570.4_Silent_p.G221G|DDR1_ENST00000513240.1_Silent_p.G221G|DDR1_ENST00000376567.2_Silent_p.G221G|DDR1_ENST00000454612.2_Silent_p.G221G|DDR1_ENST00000508312.1_Silent_p.G239G|DDR1_ENST00000376575.3_Silent_p.G221G|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000376569.3_Silent_p.G221G|DDR1_ENST00000418800.2_Silent_p.G221G	p.G221G			WXS	Illumina GAIIx	Phase_I	Q08345	DDR1_HUMAN			8	1211	+			221					B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	c.663C>T	CCDS34385.1																																																																																				0.557	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		25	7	0	0	0	1	0	25	7					T	30859254	C	T	30859254	2	4	48	1	0	0	0	0	0	0	0	1	4338	755	27	1		1	DDR1	6	30859254	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	185673	30859254	140255813	1692	6160										
GTF2H4	2968	broad.mit.edu	37	chr6	30881673	30881673	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgggcgtgctcgtgttcgaGaactcggccaagcggctcat	14	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:30881673G>T	ENST00000259895.4	+	14	1525	c.1302G>T	c.(1300-1302)gaG>gaT	p.E434D	VARS2_ENST00000542001.1_5'Flank|VARS2_ENST00000321897.5_5'Flank|VARS2_ENST00000416670.2_5'Flank|VARS2_ENST00000541562.1_5'Flank|GTF2H4_ENST00000376316.2_Missense_Mutation_p.E434D	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	434					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCGTGTTCGAGAACTCGGCCA	0.632								Nucleotide excision repair (NER)																														ENST00000259895.4																			0				breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1300-1302)gaG>gaT	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 4, 52kDa							25	24	24					6																	30881673		1509	2709	4218	SO:0001583	missense	2968				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:30881673G>T	Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"General transcription factors", "General transcription factor IIH complex subunits"	4658	protein-coding gene	gene with protein product		601760	"general transcription factor IIH, polypeptide 4 (52kD subunit)"			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.1302G>T	6.37:g.30881673G>T	ENSP00000259895:p.Glu434Asp		Somatic				GTF2H4_ENST00000376316.2_Missense_Mutation_p.E434D	p.E434D	NM_001517.4	NP_001508.1	WXS	Illumina GAIIx	Phase_I	Q92759	TF2H4_HUMAN			14	1525	+			434					B4DTJ5|Q76KU4	Missense_Mutation	SNP	ENST00000259895.4	37	c.1302G>T	CCDS34386.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757384	0.69648	.	.	ENSG00000213780	ENST00000259895;ENST00000376316	T;T	0.46819	0.86;0.86	5.86	4.99	0.66335	.	0.234955	0.34460	U	0.003949	T	0.26738	0.0654	L	0.51853	1.615	0.80722	D	1	B	0.13145	0.007	B	0.11329	0.006	T	0.05099	-1.0906	10	0.29301	T	0.29	0.391	12.0017	0.53235	0.0827:0.0:0.9173:0.0	.	434	Q92759	TF2H4_HUMAN	D	434	ENSP00000259895:E434D;ENSP00000365493:E434D	ENSP00000259895:E434D	E	+	3	2	GTF2H4	30989652	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.130000	0.64745	2.778000	0.95560	0.591000	0.81541	GAG		0.632	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517		24	7	1	0	3.83957e-06	1	4.27438e-06	24	7					T	30881673	G	T	30881673	3	4	48	1	0	0	0	0	1	0	0	0	6874	933	33	2	1352	2	GTF2H4	6	30881673	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	22419	30881673	140233394	1693	6161										
VARS2	57176	broad.mit.edu	37	chr6	30891151	30891151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtctccctcctccccgatgGatgcctggatcctgagccgc	10	17	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:30891151G>A	ENST00000321897.5	+	24	2967	c.2335G>A	c.(2335-2337)Gat>Aat	p.D779N	VARS2_ENST00000542001.1_Missense_Mutation_p.D639N|VARS2_ENST00000416670.2_Missense_Mutation_p.D779N|VARS2_ENST00000541562.1_Missense_Mutation_p.D809N|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	779					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						CTCCCCGATGGATGCCTGGAT	0.657																																						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.(2335-2337)Gat>Aat		valyl-tRNA synthetase 2, mitochondrial							51	41	45					6																	30891151		1509	2707	4216	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30891151G>A	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2335G>A	6.37:g.30891151G>A	ENSP00000316092:p.Asp779Asn		Somatic				VARS2_ENST00000416670.2_Missense_Mutation_p.D779N|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Missense_Mutation_p.D809N|VARS2_ENST00000542001.1_Missense_Mutation_p.D639N	p.D779N			WXS	Illumina GAIIx	Phase_I	Q5ST30	SYVM_HUMAN			24	2967	+			779					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.2335G>A	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502614	0.85176	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.37	5.37	0.77165	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.045098	0.85682	D	0.000000	T	0.47507	0.1449	M	0.84156	2.68	0.58432	D	0.999997	D;D;D;D	0.65815	0.994;0.995;0.994;0.972	D;D;P;P	0.68039	0.955;0.936;0.895;0.759	T	0.52358	-0.8586	10	0.87932	D	0	-23.3532	16.9538	0.86252	0.0:0.0:1.0:0.0	.	217;777;809;779	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	N	779;779;639;809	ENSP00000316092:D779N;ENSP00000394802:D779N;ENSP00000438200:D639N;ENSP00000441000:D809N	ENSP00000316092:D779N	D	+	1	0	VARS2	30999130	1.000000	0.71417	0.961000	0.40146	0.560000	0.35617	6.519000	0.73768	2.683000	0.91414	0.558000	0.71614	GAT		0.657	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		41	16	0	0	0	1	0	41	16					A	30891151	G	A	30891151	3	1	48	1	0	0	0	0	1	0	0	0	17139	1174	41	3	2523	3	VARS2	6	30891151	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	9478	30891151	140223916	1694	6162										
CSNK2B	1460	broad.mit.edu	37	chr6	31636911	31636911	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggagactttggttactgtcCtcgtgtgtactgtgagaacc	12	8	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:31636911C>A	ENST00000375882.2	+	5	485	c.329C>A	c.(328-330)cCt>cAt	p.P110H	LY6G5B_ENST00000375864.4_5'Flank|CSNK2B_ENST00000375866.2_Missense_Mutation_p.P110H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.P110H|GPANK1_ENST00000375906.1_5'Flank|LY6G5B_ENST00000409525.1_5'Flank|CSNK2B-LY6G5B-1181_ENST00000375880.2_Missense_Mutation_p.P110H|CSNK2B_ENST00000375885.4_Missense_Mutation_p.P129H	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	110					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						GGTTACTGTCCTCGTGTGTAC	0.498																																						ENST00000375880.2																			0											c.(328-330)cCt>cAt									122	100	108					6																	31636911		1511	2709	4220	SO:0001583	missense	0							g.chr6:31636911C>A	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.329C>A	6.37:g.31636911C>A	ENSP00000365042:p.Pro110His		Somatic				CSNK2B_ENST00000375866.2_Missense_Mutation_p.P110H|CSNK2B_ENST00000375885.4_Missense_Mutation_p.P129H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.P110H|CSNK2B_ENST00000375882.2_Missense_Mutation_p.P110H	p.P110H			WXS	Illumina GAIIx	Phase_I					5	447	+								B0UXA9|P07312|P13862|Q4VX47	Missense_Mutation	SNP	ENST00000375882.2	37	c.329C>A	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656533	0.88154	.	.	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375880;ENST00000375865;ENST00000375866	.	.	.	5.99	5.99	0.97316	Casein kinase II, regulatory subunit, beta-sheet (1);	0.053118	0.85682	N	0.000000	D	0.85146	0.5630	M	0.93197	3.39	0.50632	D	0.999882	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.98	D	0.87610	0.2503	8	0.66056	D	0.02	-14.4756	17.9715	0.89115	0.0:1.0:0.0:0.0	.	110;110	Q5SRQ3;P67870	.;CSK2B_HUMAN	H	129;110;110;110;110	.	ENSP00000365025:P110H	P	+	2	0	CSNK2B	31744890	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.840000	0.75369	2.840000	0.97914	0.655000	0.94253	CCT		0.498	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320		16	39	1	0	4.7546e-09	1	5.67505e-09	16	39					A	31636911	C	A	31636911	3	1	48	1	0	0	0	0	1	0	0	0	3961	681	24	5	343	5	CSNK2B	6	31636911	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	745760	31636911	139478156	1695	6163										
LY6G6F	259215	broad.mit.edu	37	chr6	31678182	31678182	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggtctatgagaacatccatTtggcccgtcttgggtgagga	13	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:31678182T>C	ENST00000375832.4	+	5	878	c.856T>C	c.(856-858)Ttg>Ctg	p.L286L	MEGT1_ENST00000503322.1_Intron|XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						GAACATCCATTTGGCCCGTCT	0.542																																						ENST00000375832.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						c.(856-858)Ttg>Ctg		lymphocyte antigen 6 complex, locus G6F							211	233	225					6																	31678182		1511	2709	4220	SO:0001819	synonymous_variant	259215					integral to membrane|plasma membrane		g.chr6:31678182T>C		CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"Immunoglobulin superfamily / V-set domain containing"	13933	protein-coding gene	gene with protein product		611404	"chromosome 6 open reading frame 21"	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.856T>C	6.37:g.31678182T>C			Somatic				XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Intron|MEGT1_ENST00000503322.1_Intron	p.L286L	NM_001003693.1	NP_001003693.1	WXS	Illumina GAIIx	Phase_I	Q5SQ64	LY66F_HUMAN			5	878	+			286					B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Silent	SNP	ENST00000375832.4	37	c.856T>C	CCDS34403.1																																																																																				0.542	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076532.2	NM_001003693		169	56	0	0	0	1	0	169	56					C	31678182	T	C	31678182	2	2	48	1	0	0	0	0	0	0	0	1	9105	1838	64	4		4	LY6G6F	6	31678182	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	41271	31678182	139436885	1696	6164										
VPS52	6293	broad.mit.edu	37	chr6	33235673	33235673	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagccgccccaggtaagagCggtagtaagacaggtaaatc	13	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:33235673C>T	ENST00000445902.2	-	9	1120	c.902G>A	c.(901-903)cGc>cAc	p.R301H	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R176H	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	301					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CAGGTAAGAGCGGTAGTAAGA	0.527																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(901-903)cGc>cAc		vacuolar protein sorting 52 homolog (S. cerevisiae)							148	145	146					6																	33235673		1511	2709	4220	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33235673C>T	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.902G>A	6.37:g.33235673C>T	ENSP00000409952:p.Arg301His		Somatic				VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R176H|VPS52_ENST00000482399.1_3'UTR	p.R301H	NM_022553.4	NP_072047.4	WXS	Illumina GAIIx	Phase_I	Q8N1B4	VPS52_HUMAN			9	1120	-			301					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.902G>A	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514955	0.85389	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	4.87	4.87	0.63330	.	0.060794	0.64402	D	0.000005	T	0.44138	0.1279	N	0.25332	0.735	0.40876	D	0.983958	D;D;D	0.69078	0.997;0.988;0.997	P;P;P	0.61070	0.883;0.703;0.883	T	0.49986	-0.8880	9	0.72032	D	0.01	-12.7608	9.3119	0.37910	0.0:0.9043:0.0:0.0957	.	279;176;301	B4DS44;B3KMF7;Q8N1B4	.;.;VPS52_HUMAN	H	301;279;176	.	ENSP00000414785:R279H	R	-	2	0	VPS52	33343651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.010000	0.57117	2.723000	0.93209	0.579000	0.79373	CGC		0.527	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		74	30	0	0	0	1	0	74	30					T	33235673	C	T	33235673	3	4	48	1	0	0	0	0	1	0	0	0	17229	768	27	1	1317	1	VPS52	6	33235673	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1557491	33235673	137879394	1697	6165										
VPS52	6293	broad.mit.edu	37	chr6	33236869	33236869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgcctggcgatttcgaagtCgaatgttcatggctcctgac	11	11	1	1	rs556647168		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:33236869C>T	ENST00000445902.2	-	6	688	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	VPS52_ENST00000482399.1_3'UTR|RPS18_ENST00000474973.1_5'Flank|RPS18_ENST00000439602.2_5'Flank|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R32Q	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	157					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATTTCGAAGTCGAATGTTCAT	0.537													C|||	1	0.000199681	8e-04	0	5008	,	,		18840	0		0	False		,,,				2504	0					ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(469-471)cGa>cAa		vacuolar protein sorting 52 homolog (S. cerevisiae)							230	217	222					6																	33236869		1511	2709	4220	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33236869C>T	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"SAC2 suppressor of actin mutations 2-like (yeast)", "vacuolar protein sorting 52 (yeast)"	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.470G>A	6.37:g.33236869C>T	ENSP00000409952:p.Arg157Gln		Somatic				VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R32Q|VPS52_ENST00000482399.1_3'UTR	p.R157Q	NM_022553.4	NP_072047.4	WXS	Illumina GAIIx	Phase_I	Q8N1B4	VPS52_HUMAN			6	688	-			157					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.470G>A	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	10.48	1.363379	0.24684	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.0	5.0	0.66597	.	0.056566	0.64402	D	0.000002	T	0.13243	0.0321	L	0.31207	0.915	0.47621	D	0.999479	B;P;B	0.41450	0.205;0.75;0.205	B;B;B	0.35727	0.034;0.209;0.034	T	0.12400	-1.0549	9	0.02654	T	1	-11.008	9.5446	0.39273	0.0:0.9061:0.0:0.0939	.	135;32;157	B4DS44;B3KMF7;Q8N1B4	.;.;VPS52_HUMAN	Q	157;135;32	.	ENSP00000414785:R135Q	R	-	2	0	VPS52	33344847	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	3.846000	0.55888	2.776000	0.95493	0.573000	0.79308	CGA		0.537	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		118	46	0	0	0	1	0	118	46					T	33236869	C	T	33236869	3	4	48	1	0	0	0	0	1	0	0	0	17229	884	31	1	1761	1	VPS52	6	33236869	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1196	33236869	137878198	1698	6166										
GRM4	2914	broad.mit.edu	37	chr6	34026885	34026885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcctgtctggttggcccttCgtgctgcctccagcacacgc	12	16	1	0	rs539899143		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:34026885C>T	ENST00000538487.2	-	5	1336	c.893G>A	c.(892-894)cGa>cAa	p.R298Q	GRM4_ENST00000374177.3_Missense_Mutation_p.R229Q|GRM4_ENST00000544773.2_Missense_Mutation_p.R129Q|GRM4_ENST00000374181.4_Missense_Mutation_p.R298Q|GRM4_ENST00000455714.2_Missense_Mutation_p.R158Q|GRM4_ENST00000609222.1_Missense_Mutation_p.R165Q|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000535756.1_Missense_Mutation_p.R165Q	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	298					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTTGGCCCTTCGTGCTGCCTC	0.622													C|||	1	0.000199681	0	0	5008	,	,		15329	0		0	False		,,,				2504	0.001					ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(892-894)cGa>cAa		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						91	64	73					6																	34026885		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34026885C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.893G>A	6.37:g.34026885C>T	ENSP00000440556:p.Arg298Gln		Somatic				GRM4_ENST00000374177.3_Missense_Mutation_p.R229Q|GRM4_ENST00000535756.1_Missense_Mutation_p.R165Q|GRM4_ENST00000544773.1_Missense_Mutation_p.R129Q|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000538487.1_Missense_Mutation_p.R298Q|GRM4_ENST00000455714.2_Missense_Mutation_p.R158Q	p.R298Q	NM_001256810.1	NP_001243739.1	WXS	Illumina GAIIx	Phase_I	Q14833	GRM4_HUMAN			4	1062	-			298					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.893G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679213	0.29783	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	3.55	3.55	0.40652	Extracellular ligand-binding receptor (1);	0.075226	0.51477	D	0.000091	T	0.47838	0.1467	L	0.31752	0.955	0.09310	N	0.999998	B;B;P;P;B	0.44946	0.024;0.017;0.846;0.604;0.014	B;B;B;B;B	0.35655	0.046;0.009;0.131;0.207;0.028	T	0.38308	-0.9667	10	0.19590	T	0.45	.	4.5697	0.12203	0.0:0.6932:0.0:0.3068	.	298;129;158;298;165	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	Q	298;229;165;129;298;158	ENSP00000363296:R298Q;ENSP00000363292:R229Q;ENSP00000437925:R165Q;ENSP00000437730:R129Q;ENSP00000440556:R298Q;ENSP00000398456:R158Q	ENSP00000363292:R229Q	R	-	2	0	GRM4	34134863	0.949000	0.32298	0.961000	0.40146	0.690000	0.40134	2.532000	0.45659	1.991000	0.58162	0.185000	0.17295	CGA		0.622	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			17	25	0	0	0	1	0	17	25					T	34026885	C	T	34026885	3	4	48	1	0	0	0	0	1	0	0	0	6808	884	31	1	1873	1	GRM4	6	34026885	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	790016	34026885	137088182	1699	6167										
FANCE	2178	broad.mit.edu	37	chr6	35425738	35425738	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccccagttgagctacagcttCttcacgaatgtagtcccagc	8	14	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:35425738C>A	ENST00000229769.2	+	4	1131	c.946C>A	c.(946-948)Ctt>Att	p.L316I		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	316	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GCTACAGCTTCTTCACGAATG	0.498			"N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000229769.2			yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"N, F, S"	"Fanconi anemia, complementation group E"			L		"AML, leukemia"			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						c.(946-948)Ctt>Att	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group E							72	70	71					6																	35425738		2203	4300	6503	SO:0001583	missense	2178	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35425738C>A	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"Fanconi anemia, complementation groups"	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.946C>A	6.37:g.35425738C>A	ENSP00000229769:p.Leu316Ile		Somatic					p.L316I	NM_021922.2	NP_068741.1	WXS	Illumina GAIIx	Phase_I	Q9HB96	FANCE_HUMAN			4	1131	+			316			Interaction with FANCC.		A8K907|Q4ZGH2	Missense_Mutation	SNP	ENST00000229769.2	37	c.946C>A	CCDS4805.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287155	0.59867	.	.	ENSG00000112039	ENST00000229769	T	0.58940	0.3	5.56	4.7	0.59300	Fanconi Anaemia group E protein, C-terminal (1);	0.064498	0.64402	D	0.000005	T	0.65770	0.2723	M	0.74258	2.255	0.41741	D	0.989613	D	0.58620	0.983	D	0.66979	0.948	T	0.71951	-0.4437	10	0.87932	D	0	-2.286	11.4503	0.50149	0.0:0.9165:0.0:0.0835	.	316	Q9HB96	FANCE_HUMAN	I	316	ENSP00000229769:L316I	ENSP00000229769:L316I	L	+	1	0	FANCE	35533716	1.000000	0.71417	0.953000	0.39169	0.431000	0.31685	2.438000	0.44837	1.355000	0.45865	0.561000	0.74099	CTT		0.498	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			42	16	1	0	2.37825e-27	1	3.36934e-27	42	16					A	35425738	C	A	35425738	3	1	48	1	0	0	0	0	1	0	0	0	5674	913	32	2	960	2	FANCE	6	35425738	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1398853	35425738	135689329	1700	6168										
KCTD20	222658	broad.mit.edu	37	chr6	36442758	36442758	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccattcccaagcaccagagaAagtgacgcttcttgtagatg	9	11	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:36442758A>C	ENST00000373731.2	+	3	744	c.353A>C	c.(352-354)aAa>aCa	p.K118T	KCTD20_ENST00000544295.1_Intron|KCTD20_ENST00000536244.1_Intron|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000449081.2_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	118	BTB.				protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						GCACCAGAGAAAGTGACGCTT	0.433																																						ENST00000373731.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						c.(352-354)aAa>aCa		potassium channel tetramerization domain containing 20							131	126	127					6																	36442758		2203	4300	6503	SO:0001583	missense	222658					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr6:36442758A>C	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"chromosome 6 open reading frame 69", "potassium channel tetramerisation domain containing 20"	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.353A>C	6.37:g.36442758A>C	ENSP00000362836:p.Lys118Thr		Somatic				KCTD20_ENST00000536244.1_Intron|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000544295.1_Intron|KCTD20_ENST00000449081.2_Intron	p.K118T	NM_173562.3	NP_775833.2	WXS	Illumina GAIIx	Phase_I	Q7Z5Y7	KCD20_HUMAN			3	744	+			118			BTB.		B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	c.353A>C	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.511691	0.85389	.	.	ENSG00000112078	ENST00000373731	T	0.79653	-1.29	5.26	5.26	0.73747	BTB/POZ-like (1);BTB/POZ fold (1);	0.075820	0.52532	D	0.000063	T	0.74160	0.3680	L	0.39898	1.24	0.80722	D	1	D	0.57257	0.979	P	0.54270	0.747	T	0.78265	-0.2271	10	0.56958	D	0.05	-26.7196	9.7847	0.40668	0.9239:0.0:0.0761:0.0	.	118	Q7Z5Y7	KCD20_HUMAN	T	118	ENSP00000362836:K118T	ENSP00000362836:K118T	K	+	2	0	KCTD20	36550736	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.108000	0.77055	2.207000	0.71202	0.533000	0.62120	AAA		0.433	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		5	60	0	0	0	1	0	5	60					C	36442758	A	C	36442758	3	2	48	1	0	0	0	0	1	0	0	0	8117	14	1	4	359	4	KCTD20	6	36442758	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1017020	36442758	134672309	1701	6169										
SFRS3	6428	broad.mit.edu	37	chr6	36566754	36566754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taggaggagtcctccacctcGtcgcaggtacttgagagaaa	12	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:36566754G>A	ENST00000373715.6	+	3	451	c.335G>A	c.(334-336)cGt>cAt	p.R112H	SRSF3_ENST00000339436.7_Missense_Mutation_p.R112H	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	112	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						CCTCCACCTCGTCGCAGGTAC	0.468																																						ENST00000373715.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(334-336)cGt>cAt		serine/arginine-rich splicing factor 3							90	84	86					6																	36566754		2203	4300	6503	SO:0001583	missense	6428				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr6:36566754G>A	L10838	CCDS4823.1	6p21	2013-02-12	2010-06-22	2010-06-22	ENSG00000112081	ENSG00000112081		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10785	protein-coding gene	gene with protein product		603364	"splicing factor, arginine/serine-rich 3"	SFRS3		1577277, 20516191	Standard	NM_003017		Approved	SRp20	uc003omj.3	P84103	OTTHUMG00000014599	ENST00000373715.6:c.335G>A	6.37:g.36566754G>A	ENSP00000362820:p.Arg112His		Somatic				SRSF3_ENST00000339436.7_Missense_Mutation_p.R112H	p.R112H	NM_003017.4	NP_003008.1	WXS	Illumina GAIIx	Phase_I	P84103	SRSF3_HUMAN			3	451	+			112			Arg/Ser-rich (RS domain).		B4E241|O08831|P23152|Q5R3K0	Missense_Mutation	SNP	ENST00000373715.6	37	c.335G>A	CCDS4823.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390894	0.82902	.	.	ENSG00000112081	ENST00000373715;ENST00000339436	T;T	0.23147	1.92;2.49	5.59	5.59	0.84812	.	0.047673	0.85682	D	0.000000	T	0.29190	0.0726	M	0.81112	2.525	0.58432	D	0.999997	P;D	0.56287	0.878;0.975	B;B	0.43155	0.05;0.41	T	0.37220	-0.9715	10	0.72032	D	0.01	.	19.5798	0.95461	0.0:0.0:1.0:0.0	.	112;112	B4E241;P84103	.;SRSF3_HUMAN	H	112	ENSP00000362820:R112H;ENSP00000344762:R112H	ENSP00000344762:R112H	R	+	2	0	SRSF3	36674732	1.000000	0.71417	0.948000	0.38648	0.982000	0.71751	9.869000	0.99810	2.622000	0.88805	0.563000	0.77884	CGT		0.468	SRSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040347.2	NM_003017		4	80	0	0	0	1	0	4	80					A	36566754	G	A	36566754	3	1	48	1	0	0	0	0	1	0	0	0	14193	1145	40	1	341	1	SFRS3	6	36566754	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	123996	36566754	134548313	1702	6170										
DNAH8	1769	broad.mit.edu	37	chr6	38750826	38750826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggacggtaaagctgtcatccGtcagtataacaagatctcct	9	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38750826G>A	ENST00000359357.3	+	15	1909	c.1655G>A	c.(1654-1656)cGt>cAt	p.R552H	DNAH8_ENST00000449981.2_Missense_Mutation_p.R769H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R552H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	552					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						GCTGTCATCCGTCAGTATAAC	0.383																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(1654-1656)cGt>cAt		dynein, axonemal, heavy chain 8							131	120	124					6																	38750826		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38750826G>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.1655G>A	6.37:g.38750826G>A	ENSP00000352312:p.Arg552His		Somatic				DNAH8_ENST00000449981.2_Missense_Mutation_p.R769H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R552H	p.R552H			WXS	Illumina GAIIx	Phase_I					15	1909	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.1655G>A		.	.	.	.	.	.	.	.	.	.	G	17.01	3.280628	0.59758	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.56776	0.44;0.44;0.44	5.93	5.93	0.95920	Dynein heavy chain, domain-1 (1);	0.141869	0.48767	D	0.000171	T	0.29524	0.0736	L	0.41492	1.28	0.44899	D	0.997917	B	0.22480	0.07	B	0.21708	0.036	T	0.08743	-1.0707	10	0.33940	T	0.23	.	12.1873	0.54247	0.084:0.0:0.916:0.0	.	552	Q96JB1	DYH8_HUMAN	H	757;757;552;552	ENSP00000333363:R757H;ENSP00000352312:R552H;ENSP00000402294:R552H	ENSP00000333363:R757H	R	+	2	0	DNAH8	38858804	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.302000	0.43637	2.798000	0.96311	0.655000	0.94253	CGT		0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		16	33	0	0	0	1	0	16	33					A	38750826	G	A	38750826	3	1	48	1	0	0	0	0	1	0	0	0	4609	1145	40	1	1705	1	DNAH8	6	38750826	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2184072	38750826	132364241	1703	6171										
DNAH8	1769	broad.mit.edu	37	chr6	38810148	38810148	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttactttgtttcccagaaaaGaactcaacttgctgcagaag	7	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38810148G>T	ENST00000359357.3	+	32	4074	c.3820G>T	c.(3820-3822)Gaa>Taa	p.E1274*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.E1491*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.E1274*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1274					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						TCCCAGAAAAGAACTCAACTT	0.323																																						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.(3820-3822)Gaa>Taa		dynein, axonemal, heavy chain 8							109	110	110					6																	38810148		2203	4299	6502	SO:0001587	stop_gained	1769							g.chr6:38810148G>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.3820G>T	6.37:g.38810148G>T	ENSP00000352312:p.Glu1274*		Somatic				DNAH8_ENST00000449981.2_Nonsense_Mutation_p.E1491*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.E1274*	p.E1274*			WXS	Illumina GAIIx	Phase_I					32	4074	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	ENST00000359357.3	37	c.3820G>T		.	.	.	.	.	.	.	.	.	.	G	45	11.760084	0.99599	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.66	5.66	0.87406	.	0.053535	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.2631	0.73640	0.0:0.1397:0.8603:0.0	.	.	.	.	X	1479;1479;1274;1274	.	ENSP00000333363:E1479X	E	+	1	0	DNAH8	38918126	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.096000	0.50243	2.657000	0.90304	0.655000	0.94253	GAA		0.323	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		34	16	1	0	3.03874e-20	1	4.1594e-20	34	16					T	38810148	G	T	38810148	4	4	48	1	0	0	0	0	0	1	0	0	4609	943	33	2	3938	2	DNAH8	6	38810148	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	59322	38810148	132304919	1704	6172										
DNAH8	1769	broad.mit.edu	37	chr6	38810576	38810576	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaacagagacactgggataGaatctccgagttaactggaa	11	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38810576G>T	ENST00000359357.3	+	33	4345	c.4091G>T	c.(4090-4092)aGa>aTa	p.R1364I	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1581I|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1364I			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1364					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACTGGGATAGAATCTCCGAG	0.383																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(4090-4092)aGa>aTa		dynein, axonemal, heavy chain 8							131	120	124					6																	38810576		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38810576G>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.4091G>T	6.37:g.38810576G>T	ENSP00000352312:p.Arg1364Ile		Somatic				DNAH8_ENST00000449981.2_Missense_Mutation_p.R1581I|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1364I	p.R1364I			WXS	Illumina GAIIx	Phase_I					33	4345	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.4091G>T		.	.	.	.	.	.	.	.	.	.	G	27.1	4.802700	0.90623	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.61158	0.13;0.13;0.13	5.12	5.12	0.69794	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.78451	0.4285	M	0.91038	3.17	0.80722	D	1	D	0.63046	0.992	D	0.68943	0.961	T	0.82942	-0.0207	10	0.62326	D	0.03	.	18.9269	0.92549	0.0:0.0:1.0:0.0	.	1364	Q96JB1	DYH8_HUMAN	I	1569;1569;1364;1364	ENSP00000333363:R1569I;ENSP00000352312:R1364I;ENSP00000402294:R1364I	ENSP00000333363:R1569I	R	+	2	0	DNAH8	38918554	0.999000	0.42202	0.998000	0.56505	0.916000	0.54674	7.966000	0.87956	2.532000	0.85374	0.557000	0.71058	AGA		0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		51	15	1	0	8.94452e-30	1	1.27491e-29	51	15					T	38810576	G	T	38810576	3	4	48	1	0	0	0	0	1	0	0	0	4609	942	33	2	4213	2	DNAH8	6	38810576	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	428	38810576	132304491	1705	6173										
DNAH8	1769	broad.mit.edu	37	chr6	38813386	38813386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccattaaggagaaggatatcGaagccaagctgactcaggtg	12	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38813386G>A	ENST00000359357.3	+	34	4485	c.4231G>A	c.(4231-4233)Gaa>Aaa	p.E1411K	DNAH8_ENST00000449981.2_Missense_Mutation_p.E1628K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E1411K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1411					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.E1411K(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						GAAGGATATCGAAGCCAAGCT	0.388																																						ENST00000359357.3																			2	Substitution - Missense(2)	p.E1411K(2)	NS(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.(4231-4233)Gaa>Aaa		dynein, axonemal, heavy chain 8							89	82	85					6																	38813386		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38813386G>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.4231G>A	6.37:g.38813386G>A	ENSP00000352312:p.Glu1411Lys		Somatic				DNAH8_ENST00000449981.2_Missense_Mutation_p.E1628K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E1411K	p.E1411K			WXS	Illumina GAIIx	Phase_I					34	4485	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.4231G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.628722	0.96671	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.66995	-0.24;-0.24;-0.24	5.53	5.53	0.82687	Dynein heavy chain, domain-2 (1);	0.055931	0.64402	D	0.000001	D	0.89090	0.6616	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.93228	0.6615	10	0.87932	D	0	.	19.454	0.94880	0.0:0.0:1.0:0.0	.	1411	Q96JB1	DYH8_HUMAN	K	1616;1616;1411;1411	ENSP00000333363:E1616K;ENSP00000352312:E1411K;ENSP00000402294:E1411K	ENSP00000333363:E1616K	E	+	1	0	DNAH8	38921364	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.711000	0.98735	2.604000	0.88044	0.650000	0.86243	GAA		0.388	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		53	25	0	0	0	1	0	53	25					A	38813386	G	A	38813386	3	1	48	1	0	0	0	0	1	0	0	0	4609	1059	37	1	4357	1	DNAH8	6	38813386	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2810	38813386	132301681	1706	6174										
DNAH8	1769	broad.mit.edu	37	chr6	38913287	38913287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgtcctcccaaaccctatCgctggatccttgacatgact	6	16	0	2	rs577374411		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38913287C>T	ENST00000359357.3	+	78	11655	c.11401C>T	c.(11401-11403)Cgc>Tgc	p.R3801C	DNAH8_ENST00000449981.2_Missense_Mutation_p.R4018C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3765C|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3801					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						CAAACCCTATCGCTGGATCCT	0.483													C|||	1	0.000199681	0	0	5008	,	,		17716	0.001		0	False		,,,				2504	0					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.(11401-11403)Cgc>Tgc		dynein, axonemal, heavy chain 8							114	106	109					6																	38913287		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38913287C>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.11401C>T	6.37:g.38913287C>T	ENSP00000352312:p.Arg3801Cys		Somatic				RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.R4018C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3765C	p.R3801C			WXS	Illumina GAIIx	Phase_I					78	11655	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.11401C>T		.	.	.	.	.	.	.	.	.	.	C	17.77	3.470828	0.63625	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.08807	3.05;3.05;3.05	5.69	4.74	0.60224	Dynein heavy chain (1);	0.117766	0.56097	D	0.000022	T	0.17704	0.0425	M	0.65975	2.015	0.51767	D	0.999938	D;D	0.76494	0.999;0.999	P;D	0.64877	0.886;0.93	T	0.00178	-1.1951	10	0.66056	D	0.02	.	15.4761	0.75481	0.2282:0.7718:0.0:0.0	.	3765;3801	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	C	4006;4006;3801;3765	ENSP00000333363:R4006C;ENSP00000352312:R3801C;ENSP00000402294:R3765C	ENSP00000333363:R4006C	R	+	1	0	DNAH8	39021265	0.915000	0.31059	0.963000	0.40424	0.961000	0.63080	1.915000	0.39976	2.693000	0.91896	0.561000	0.74099	CGC		0.483	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		60	23	0	0	0	1	0	60	23					T	38913287	C	T	38913287	3	4	48	1	0	0	0	0	1	0	0	0	4609	884	31	1	11703	1	DNAH8	6	38913287	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	99901	38913287	132201780	1707	6175										
LRFN2	57497	broad.mit.edu	37	chr6	40399910	40399910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtggataagggggctggggtCcccaatggctttgcacttga	16	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:40399910C>T	ENST00000338305.6	-	2	1485	c.943G>A	c.(943-945)Gac>Aac	p.D315N		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	315	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGCTGGGGTCCCCAATGGCT	0.597																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(943-945)Gac>Aac		leucine rich repeat and fibronectin type III domain containing 2							40	42	41					6																	40399910		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40399910C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.943G>A	6.37:g.40399910C>T	ENSP00000345985:p.Asp315Asn		Somatic					p.D315N	NM_020737.1	NP_065788.1	WXS	Illumina GAIIx	Phase_I	Q9ULH4	LRFN2_HUMAN			2	1485	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		315			Ig-like.		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.943G>A	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569531	0.86439	.	.	ENSG00000156564	ENST00000338305	T	0.66815	-0.23	5.63	5.63	0.86233	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73048	0.3537	L	0.45228	1.405	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.75496	-0.3297	10	0.87932	D	0	.	18.2433	0.89974	0.0:1.0:0.0:0.0	.	315	Q9ULH4	LRFN2_HUMAN	N	315	ENSP00000345985:D315N	ENSP00000345985:D315N	D	-	1	0	LRFN2	40507888	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.806000	0.86020	2.661000	0.90470	0.655000	0.94253	GAC		0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		21	47	0	0	0	1	0	21	47					T	40399910	C	T	40399910	3	4	48	1	0	0	0	0	1	0	0	0	8947	855	30	3	1434	3	LRFN2	6	40399910	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1486623	40399910	130715157	1708	6176										
TAF8	129685	broad.mit.edu	37	chr6	42023720	42023720	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggacactctccctgcttatgCaaaacggtctcagaggatgg	11	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:42023720C>A	ENST00000372977.3	+	4	350	c.332C>A	c.(331-333)gCa>gAa	p.A111E	TAF8_ENST00000372982.4_Missense_Mutation_p.A111E|TAF8_ENST00000456846.2_Missense_Mutation_p.A111E|TAF8_ENST00000494547.1_Missense_Mutation_p.A111E|TAF8_ENST00000472818.1_Missense_Mutation_p.A111E|TAF8_ENST00000482432.1_Missense_Mutation_p.A48E|TAF8_ENST00000482926.1_3'UTR|TAF8_ENST00000465926.1_Missense_Mutation_p.A48E|TAF8_ENST00000372978.3_Missense_Mutation_p.A111E	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	111					cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			CCTGCTTATGCAAAACGGTCT	0.388																																						ENST00000372977.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						c.(331-333)gCa>gAa		TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa							156	142	146					6																	42023720		1936	4130	6066	SO:0001583	missense	129685				cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding	g.chr6:42023720C>A	AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa", "taube nuss homolog (mouse)"	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692	ENST00000372977.3:c.332C>A	6.37:g.42023720C>A	ENSP00000362068:p.Ala111Glu		Somatic				TAF8_ENST00000456846.2_Missense_Mutation_p.A111E|TAF8_ENST00000472818.1_Missense_Mutation_p.A111E|TAF8_ENST00000494547.1_Missense_Mutation_p.A111E|TAF8_ENST00000465926.1_Missense_Mutation_p.A48E|TAF8_ENST00000372982.4_Missense_Mutation_p.A111E|TAF8_ENST00000372978.3_Missense_Mutation_p.A111E|TAF8_ENST00000482432.1_Missense_Mutation_p.A48E|TAF8_ENST00000482926.1_3'UTR	p.A111E	NM_138572.2	NP_612639.2	WXS	Illumina GAIIx	Phase_I	Q7Z7C8	TAF8_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)		4	350	+	Colorectal(47;0.196)		111					Q5T0K1|Q8N4R9|Q96M52	Missense_Mutation	SNP	ENST00000372977.3	37	c.332C>A	CCDS43462.1	.	.	.	.	.	.	.	.	.	.	C	35	5.483031	0.96307	.	.	ENSG00000137413	ENST00000372978;ENST00000456846;ENST00000494547;ENST00000372982;ENST00000372977;ENST00000472818;ENST00000465926;ENST00000482432	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74612	0.3739	M	0.75777	2.31	0.80722	D	1	P;D;D;D;D	0.71674	0.933;0.992;0.99;0.986;0.998	P;D;P;P;D	0.78314	0.462;0.925;0.779;0.843;0.991	T	0.66135	-0.5999	9	0.21014	T	0.42	-18.7186	20.4745	0.99168	0.0:1.0:0.0:0.0	.	48;111;111;111;111	B4DZU5;Q7Z7C8-2;Q7Z7C8-4;Q7Z7C8;C9J7M8	.;.;.;TAF8_HUMAN;.	E	111;111;111;111;111;111;48;48	.	ENSP00000362068:A111E	A	+	2	0	TAF8	42131698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.420000	0.80191	2.941000	0.99782	0.655000	0.94253	GCA		0.388	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357901.1	NM_138572		34	19	1	0	6.05902e-23	1	8.45196e-23	34	19					A	42023720	C	A	42023720	3	1	48	1	0	0	0	0	1	0	0	0	15549	710	25	5	346	5	TAF8	6	42023720	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1623810	42023720	129091347	1709	6177										
ABCC10	89845	broad.mit.edu	37	chr6	43406363	43406363	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcgcctggctctctgcaggCtgcgtgggcatgtggcagtg	16	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:43406363C>T	ENST00000372530.4	+	8	2172	c.1957C>T	c.(1957-1959)Ctg>Ttg	p.L653L	ABCC10_ENST00000244533.3_Splice_Site_p.L625L	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	653	ABC transporter 1. {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)	TCTCTGCAGGCTGCGTGGGCA	0.622																																						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.e6-1		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							61	62	62					6																	43406363		2203	4300	6503	SO:0001630	splice_region_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43406363C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1956-1C>T	6.37:g.43406363C>T			Somatic				ABCC10_ENST00000372530.4_Splice_Site_p.L653_splice	p.L625_splice	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)		6	2232	+	all_lung(25;0.00536)		653			ABC transporter 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Splice_Site	SNP	ENST00000372530.4	37	c.1871_splice	CCDS56430.1																																																																																				0.622	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450	Silent	14	39	0	0	0	1	0	14	39					T	43406363	C	T	43406363	5	4	48	1	0	0	0	0	0	0	1	0	50	811	28	3	1895	3	ABCC10	6	43406363	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1382643	43406363	127708704	1710	6178										
XPO5	57510	broad.mit.edu	37	chr6	43501728	43501728	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggctagcatttctggtgcatAtaatgtattgtgggttctga	12	5	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:43501728A>G	ENST00000265351.7	-	21	2569	c.2359T>C	c.(2359-2361)Tat>Cat	p.Y787H		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	787					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)			TCTGGTGCATATAATGTATTG	0.403																																						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.(2359-2361)Tat>Cat		exportin 5							132	127	128					6																	43501728		1844	4086	5930	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43501728A>G	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.2359T>C	6.37:g.43501728A>G	ENSP00000265351:p.Tyr787His		Somatic					p.Y787H	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)		21	2569	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		787					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.2359T>C	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.521926	0.85600	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372258;ENST00000439465	T	0.66815	-0.23	5.47	5.47	0.80525	Armadillo-like helical (1);Armadillo-type fold (1);	0.059910	0.64402	D	0.000001	T	0.63498	0.2516	M	0.61703	1.905	0.46586	D	0.999119	D	0.67145	0.996	P	0.57548	0.823	T	0.64931	-0.6291	10	0.08837	T	0.75	-15.0627	15.5608	0.76244	1.0:0.0:0.0:0.0	.	787	Q9HAV4	XPO5_HUMAN	H	787;492;327;415	ENSP00000265351:Y787H	ENSP00000265351:Y787H	Y	-	1	0	XPO5	43609706	1.000000	0.71417	0.995000	0.50966	0.877000	0.50540	7.951000	0.87819	2.076000	0.62316	0.459000	0.35465	TAT		0.403	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		23	51	0	0	0	1	0	23	51					G	43501728	A	G	43501728	3	3	48	1	0	0	0	0	1	0	0	0	17462	449	16	4	1303	4	XPO5	6	43501728	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	95365	43501728	127613339	1711	6179										
TMEM63B	55362	broad.mit.edu	37	chr6	44117685	44117685	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtctactactcagccttcttTgaagcccactggacacggta	8	13	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:44117685T>C	ENST00000259746.9	+	16	1686	c.1503T>C	c.(1501-1503)ttT>ttC	p.F501F	TMEM63B_ENST00000323267.6_Silent_p.F501F			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	501					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CAGCCTTCTTTGAAGCCCACT	0.597																																						ENST00000259746.9																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35						c.(1501-1503)ttT>ttC		transmembrane protein 63B							189	135	154					6																	44117685		2203	4300	6503	SO:0001819	synonymous_variant	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44117685T>C	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1503T>C	6.37:g.44117685T>C			Somatic				TMEM63B_ENST00000323267.6_Silent_p.F501F	p.F501F			WXS	Illumina GAIIx	Phase_I	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		16	1686	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		501					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Silent	SNP	ENST00000259746.9	37	c.1503T>C	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.265471	0.23136	.	.	ENSG00000137216	ENST00000371893	.	.	.	4.58	-6.31	0.02001	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57219	-0.7849	4	.	.	.	.	11.7517	0.51852	0.1061:0.6003:0.0:0.2936	.	.	.	.	S	430	.	.	L	+	2	0	TMEM63B	44225663	0.000000	0.05858	0.963000	0.40424	0.995000	0.86356	-1.893000	0.01609	-0.892000	0.03935	0.408000	0.27601	TTG		0.597	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		5	21	0	0	0	1	0	5	21					C	44117685	T	C	44117685	2	2	48	1	0	0	0	0	0	0	0	1	16206	1809	63	4		4	TMEM63B	6	44117685	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	615957	44117685	126997382	1712	6180										
SPATS1	221409	broad.mit.edu	37	chr6	44310906	44310906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catctcaagcacgacctgcgGcagacagctggagaaggttc	12	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:44310906G>A	ENST00000288390.2	+	1	421	c.74G>A	c.(73-75)gGc>gAc	p.G25D	SPATS1_ENST00000323108.8_Missense_Mutation_p.G25D|RP11-444E17.6_ENST00000505802.1_Intron			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	25										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)			ACGACCTGCGGCAGACAGCTG	0.517																																						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.(73-75)gGc>gAc		spermatogenesis associated, serine-rich 1							65	64	64					6																	44310906		2203	4300	6503	SO:0001583	missense	221409							g.chr6:44310906G>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.74G>A	6.37:g.44310906G>A	ENSP00000424400:p.Gly25Asp		Somatic				SPATS1_ENST00000323108.8_Missense_Mutation_p.G25D	p.G25D			WXS	Illumina GAIIx	Phase_I	Q496A3	SPAS1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		1	421	+	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		25					Q496A2|Q496A5|Q96LJ0	Missense_Mutation	SNP	ENST00000288390.2	37	c.74G>A	CCDS4911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.63|13.63	2.294173|2.294173	0.40594|0.40594	.|.	.|.	ENSG00000249481|ENSG00000249481	ENST00000515220|ENST00000323108;ENST00000288390	.|T;T	.|0.55052	.|0.54;0.54	3.56|3.56	-0.476|-0.476	0.12100|0.12100	.|.	.|0.949213	.|0.08611	.|N	.|0.919944	T|T	0.14485|0.14485	0.0350|0.0350	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.25641|0.25641	-1.0126|-1.0126	5|10	.|0.46703	.|T	.|0.11	.|.	3.7169|3.7169	0.08441|0.08441	0.3515:0.1998:0.4488:0.0|0.3515:0.1998:0.4488:0.0	.|.	.|25	.|Q496A3	.|SPAS1_HUMAN	T|D	59|25	.|ENSP00000437552:G25D;ENSP00000424400:G25D	.|ENSP00000424400:G25D	A|G	+|+	1|2	0|0	SPATS1|SPATS1	44418884|44418884	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.070000|0.070000	0.16714|0.16714	-0.514000|-0.514000	0.06298|0.06298	-0.107000|-0.107000	0.12088|0.12088	-0.140000|-0.140000	0.14226|0.14226	GCA|GGC		0.517	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		23	49	0	0	0	1	0	23	49					A	44310906	G	A	44310906	3	1	48	1	0	0	0	0	1	0	0	0	15033	1203	42	3	76	3	SPATS1	6	44310906	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	193221	44310906	126804161	1713	6181										
CDC5L	988	broad.mit.edu	37	chr6	44393877	44393877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcgtgtaaaggaaatgaaacGaatgcataaagctgtccaga	11	6	0	2	rs374722205		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:44393877G>A	ENST00000371477.3	+	12	1906	c.1607G>A	c.(1606-1608)cGa>cAa	p.R536Q		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	536	Interaction with DAPK3. {ECO:0000250|UniProtKB:O08837}.|Interaction with PPP1R8.				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)			GAAATGAAACGAATGCATAAA	0.348																																						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.(1606-1608)cGa>cAa		cell division cycle 5-like		G	GLN/ARG	0,4406		0,0,2203	112	109	110		1607	4.7	1	6		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDC5L	NM_001253.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	536/803	44393877	1,13005	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.chr6:44393877G>A	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.1607G>A	6.37:g.44393877G>A	ENSP00000360532:p.Arg536Gln		Somatic					p.R536Q	NM_001253.3	NP_001244.1	WXS	Illumina GAIIx	Phase_I	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		12	1906	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		536			Interaction with DAPK3 (By similarity).|Interaction with PPP1R8.		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.1607G>A	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711820	0.48517	0.0	1.16E-4	ENSG00000096401	ENST00000371477	T	0.48836	0.8	5.62	4.73	0.59995	.	0.268589	0.36034	N	0.002822	T	0.23054	0.0557	L	0.42529	1.33	0.36608	D	0.875037	B	0.29646	0.253	B	0.22880	0.042	T	0.18524	-1.0334	10	0.54805	T	0.06	-7.2411	9.418	0.38534	0.0716:0.0:0.7847:0.1437	.	536	Q99459	CDC5L_HUMAN	Q	536	ENSP00000360532:R536Q	ENSP00000360532:R536Q	R	+	2	0	CDC5L	44501855	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.866000	0.56040	2.660000	0.90430	0.655000	0.94253	CGA		0.348	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			13	32	0	0	0	1	0	13	32					A	44393877	G	A	44393877	3	1	48	1	0	0	0	0	1	0	0	0	3084	1058	37	1	1653	1	CDC5L	6	44393877	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	82971	44393877	126721190	1714	6182										
CYP39A1	51302	broad.mit.edu	37	chr6	46555824	46555824	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggatttctatgcagccaaaAtggagacaacatcaacaagt	8	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46555824A>C	ENST00000275016.2	-	9	1311	c.1108T>G	c.(1108-1110)Ttt>Gtt	p.F370V	CYP39A1_ENST00000489657.1_5'Flank	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	370					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						TGCAGCCAAAATGGAGACAAC	0.289																																						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.(1108-1110)Ttt>Gtt		cytochrome P450, family 39, subfamily A, polypeptide 1							57	61	59					6																	46555824		2202	4296	6498	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.chr6:46555824A>C	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.1108T>G	6.37:g.46555824A>C	ENSP00000275016:p.Phe370Val		Somatic					p.F370V	NM_016593.3	NP_057677.2	WXS	Illumina GAIIx	Phase_I	Q9NYL5	CP39A_HUMAN			9	1311	-			370					Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	c.1108T>G	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740207	0.89573	.	.	ENSG00000146233	ENST00000275016	T	0.67865	-0.29	6.06	6.06	0.98353	.	0.058289	0.64402	D	0.000002	T	0.70046	0.3179	L	0.54965	1.715	0.44547	D	0.997501	D;D	0.89917	0.999;1.0	D;D	0.72625	0.975;0.978	T	0.66300	-0.5958	10	0.17832	T	0.49	-24.8215	16.6093	0.84858	1.0:0.0:0.0:0.0	.	350;370	B7Z786;Q9NYL5	.;CP39A_HUMAN	V	370	ENSP00000275016:F370V	ENSP00000275016:F370V	F	-	1	0	CYP39A1	46663783	1.000000	0.71417	0.985000	0.45067	0.976000	0.68499	7.370000	0.79589	2.324000	0.78689	0.533000	0.62120	TTT		0.289	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			16	29	0	0	0	1	0	16	29					C	46555824	A	C	46555824	3	2	48	1	0	0	0	0	1	0	0	0	4179	101	4	4	317	4	CYP39A1	6	46555824	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2161947	46555824	124559243	1715	6183										
TDRD6	221400	broad.mit.edu	37	chr6	46659193	46659193	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcctgatcatataccagaaGaagtggtggtgtggtttcag	12	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46659193G>T	ENST00000316081.6	+	1	3328	c.3328G>T	c.(3328-3330)Gaa>Taa	p.E1110*	TDRD6_ENST00000544460.1_Nonsense_Mutation_p.E1110*	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1110					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)			TATACCAGAAGAAGTGGTGGT	0.378																																						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.(3328-3330)Gaa>Taa		tudor domain containing 6							144	140	142					6																	46659193		2203	4300	6503	SO:0001587	stop_gained	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46659193G>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3328G>T	6.37:g.46659193G>T	ENSP00000346065:p.Glu1110*		Somatic				TDRD6_ENST00000316081.6_Nonsense_Mutation_p.E1110*	p.E1110*	NM_001168359.1	NP_001161831.1	WXS	Illumina GAIIx	Phase_I	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	3582	+			1110					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Nonsense_Mutation	SNP	ENST00000316081.6	37	c.3328G>T	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	40	8.281414	0.98740	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	.	.	.	5.73	4.86	0.63082	.	0.382533	0.29093	N	0.013161	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-20.7426	15.0304	0.71701	0.0686:0.0:0.9314:0.0	.	.	.	.	X	1110	.	ENSP00000346065:E1110X	E	+	1	0	TDRD6	46767152	1.000000	0.71417	0.955000	0.39395	0.899000	0.52679	4.446000	0.60014	1.426000	0.47256	0.655000	0.94253	GAA		0.378	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		35	70	1	0	4.62619e-21	1	6.37263e-21	35	70					T	46659193	G	T	46659193	4	4	48	1	0	0	0	0	0	1	0	0	15749	943	33	2	3330	2	TDRD6	6	46659193	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	103369	46659193	124455874	1716	6184										
TDRD6	221400	broad.mit.edu	37	chr6	46660805	46660805	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catttcagaaggattatgttCtcaagagggaaatgactatt	9	5	2	3	rs566706416	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46660805C>A	ENST00000316081.6	+	1	4940	c.4940C>A	c.(4939-4941)tCt>tAt	p.S1647Y	TDRD6_ENST00000544460.1_Missense_Mutation_p.S1647Y	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1647					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)			GGATTATGTTCTCAAGAGGGA	0.393																																						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.(4939-4941)tCt>tAt		tudor domain containing 6							75	78	77					6																	46660805		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660805C>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4940C>A	6.37:g.46660805C>A	ENSP00000346065:p.Ser1647Tyr		Somatic				TDRD6_ENST00000316081.6_Missense_Mutation_p.S1647Y	p.S1647Y	NM_001168359.1	NP_001161831.1	WXS	Illumina GAIIx	Phase_I	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	5194	+			1647					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.4940C>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237898	0.39598	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.17370	2.28;2.3	5.88	5.01	0.66863	.	0.553031	0.19170	N	0.120945	T	0.09113	0.0225	L	0.38175	1.15	0.09310	N	1	D;D	0.57571	0.975;0.98	P;P	0.51193	0.662;0.547	T	0.13818	-1.0495	10	0.66056	D	0.02	-10.9422	5.9786	0.19395	0.1414:0.6461:0.1367:0.0758	.	1647;1647	F5H5M3;O60522	.;TDRD6_HUMAN	Y	1647	ENSP00000443299:S1647Y;ENSP00000346065:S1647Y	ENSP00000346065:S1647Y	S	+	2	0	TDRD6	46768764	0.256000	0.24012	0.996000	0.52242	0.554000	0.35429	1.359000	0.34113	1.475000	0.48197	0.655000	0.94253	TCT		0.393	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		26	50	1	0	3.73148e-12	1	4.68978e-12	26	50					A	46660805	C	A	46660805	3	1	48	1	0	0	0	0	1	0	0	0	15749	913	32	2	4942	2	TDRD6	6	46660805	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1612	46660805	124454262	1717	6185										
PLA2G7	7941	broad.mit.edu	37	chr6	46678377	46678377	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgagagcttgggaacattCttttgctctttgccgtacct	9	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46678377C>T	ENST00000274793.7	-	8	878	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	PLA2G7_ENST00000538237.1_Missense_Mutation_p.E183K|PLA2G7_ENST00000541026.1_Missense_Mutation_p.E101K|PLA2G7_ENST00000537365.1_Missense_Mutation_p.E228K	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	228					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGGGAACATTCTTTTGCTCTT	0.323																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(682-684)Gaa>Aaa		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							98	97	98					6																	46678377		2203	4299	6502	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46678377C>T	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.682G>A	6.37:g.46678377C>T	ENSP00000274793:p.Glu228Lys		Somatic				PLA2G7_ENST00000541026.1_Missense_Mutation_p.E101K|PLA2G7_ENST00000538237.1_Missense_Mutation_p.E183K|PLA2G7_ENST00000537365.1_Missense_Mutation_p.E228K	p.E228K	NM_005084.3	NP_005075.3	WXS	Illumina GAIIx	Phase_I	Q13093	PAFA_HUMAN	Lung(136;0.192)		8	878	-			228					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.682G>A	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	C	35	5.474493	0.96291	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.84982	0.5593	M	0.91972	3.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.86117	0.1566	10	0.59425	D	0.04	.	20.1672	0.98154	0.0:1.0:0.0:0.0	.	101;183;228;228	B4DLM5;F5GYY6;A8K2W6;Q13093	.;.;.;PAFA_HUMAN	K	228;228;183;101	ENSP00000274793:E228K;ENSP00000445666:E228K;ENSP00000441416:E183K;ENSP00000444164:E101K	ENSP00000274793:E228K	E	-	1	0	PLA2G7	46786336	1.000000	0.71417	0.992000	0.48379	0.937000	0.57800	7.034000	0.76511	2.861000	0.98227	0.655000	0.94253	GAA		0.323	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			4	47	0	0	0	1	0	4	47					T	46678377	C	T	46678377	3	4	48	1	0	0	0	0	1	0	0	0	12018	922	32	3	663	3	PLA2G7	6	46678377	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	17572	46678377	124436690	1718	6186										
PLA2G7	7941	broad.mit.edu	37	chr6	46679328	46679328	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcagcagattggtccttgaAatagtaagttgcagatgcag	12	6	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46679328A>C	ENST00000274793.7	-	7	764	c.568T>G	c.(568-570)Ttc>Gtc	p.F190V	PLA2G7_ENST00000538237.1_Missense_Mutation_p.F145V|PLA2G7_ENST00000541026.1_Missense_Mutation_p.F63V|PLA2G7_ENST00000537365.1_Missense_Mutation_p.F190V	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	190					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGGTCCTTGAAATAGTAAGTT	0.413																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(568-570)Ttc>Gtc		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							220	203	209					6																	46679328		2203	4300	6503	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46679328A>C	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.568T>G	6.37:g.46679328A>C	ENSP00000274793:p.Phe190Val		Somatic				PLA2G7_ENST00000541026.1_Missense_Mutation_p.F63V|PLA2G7_ENST00000538237.1_Missense_Mutation_p.F145V|PLA2G7_ENST00000537365.1_Missense_Mutation_p.F190V	p.F190V	NM_005084.3	NP_005075.3	WXS	Illumina GAIIx	Phase_I	Q13093	PAFA_HUMAN	Lung(136;0.192)		7	764	-			190					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.568T>G	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.407477	0.62399	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.72	4.52	0.55395	.	0.097717	0.64402	D	0.000001	T	0.44993	0.1320	M	0.74389	2.26	0.41349	D	0.987353	D;B;D;D	0.54047	0.959;0.351;0.964;0.964	D;B;P;P	0.64144	0.922;0.368;0.894;0.894	T	0.52403	-0.8580	10	0.17369	T	0.5	.	5.0699	0.14602	0.7547:0.0:0.0841:0.1611	.	63;145;190;190	B4DLM5;F5GYY6;A8K2W6;Q13093	.;.;.;PAFA_HUMAN	V	190;190;145;63	ENSP00000274793:F190V;ENSP00000445666:F190V;ENSP00000441416:F145V;ENSP00000444164:F63V	ENSP00000274793:F190V	F	-	1	0	PLA2G7	46787287	0.982000	0.34865	0.704000	0.30370	0.770000	0.43624	3.739000	0.55075	0.938000	0.37419	0.533000	0.62120	TTC		0.413	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			44	74	0	0	0	1	0	44	74					C	46679328	A	C	46679328	3	2	48	1	0	0	0	0	1	0	0	0	12018	14	1	4	781	4	PLA2G7	6	46679328	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	951	46679328	124435739	1719	6187										
PLA2G7	7941	broad.mit.edu	37	chr6	46682224	46682224	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccccaagaccatgagaaaaaAcaacaagtggatatttttca	6	9	1	2	rs201022799		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46682224A>G	ENST00000274793.7	-	5	639	c.443T>C	c.(442-444)gTt>gCt	p.V148A	PLA2G7_ENST00000538237.1_Missense_Mutation_p.V103A|PLA2G7_ENST00000541026.1_Missense_Mutation_p.V21A|PLA2G7_ENST00000537365.1_Missense_Mutation_p.V148A	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	148					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			ATGAGAAAAAACAACAAGTGG	0.368																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(442-444)gTt>gCt		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							113	111	112					6																	46682224		2203	4300	6503	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46682224A>G	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.443T>C	6.37:g.46682224A>G	ENSP00000274793:p.Val148Ala		Somatic				PLA2G7_ENST00000541026.1_Missense_Mutation_p.V21A|PLA2G7_ENST00000538237.1_Missense_Mutation_p.V103A|PLA2G7_ENST00000537365.1_Missense_Mutation_p.V148A	p.V148A	NM_005084.3	NP_005075.3	WXS	Illumina GAIIx	Phase_I	Q13093	PAFA_HUMAN	Lung(136;0.192)		5	639	-			148					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.443T>C	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.698563	0.88830	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.91	5.91	0.95273	.	0.472072	0.24823	N	0.035302	T	0.63486	0.2515	M	0.82923	2.615	0.41532	D	0.988463	P;P;P;P	0.50272	0.933;0.734;0.887;0.887	P;P;P;P	0.50860	0.55;0.652;0.583;0.583	T	0.71800	-0.4483	10	0.87932	D	0	.	14.5903	0.68359	1.0:0.0:0.0:0.0	.	21;103;148;148	B4DLM5;F5GYY6;A8K2W6;Q13093	.;.;.;PAFA_HUMAN	A	148;148;103;21	ENSP00000274793:V148A;ENSP00000445666:V148A;ENSP00000441416:V103A;ENSP00000444164:V21A	ENSP00000274793:V148A	V	-	2	0	PLA2G7	46790183	1.000000	0.71417	0.520000	0.27837	0.954000	0.61252	8.744000	0.91596	2.259000	0.74868	0.528000	0.53228	GTT		0.368	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			4	75	0	0	0	1	0	4	75					G	46682224	A	G	46682224	3	3	48	1	0	0	0	0	1	0	0	0	12018	43	2	4	914	4	PLA2G7	6	46682224	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2896	46682224	124432843	1720	6188										
GPR116	221395	broad.mit.edu	37	chr6	46826811	46826811	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgcctgaagggctattgttCttaaaagtcattgaaatcct	8	9	2	2	rs144073167		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46826811C>A	ENST00000283296.7	-	17	3117	c.2829G>T	c.(2827-2829)aaG>aaT	p.K943N	GPR116_ENST00000545669.1_Missense_Mutation_p.K372N|GPR116_ENST00000456426.2_Missense_Mutation_p.K801N|GPR116_ENST00000362015.4_Missense_Mutation_p.K943N|GPR116_ENST00000265417.7_Missense_Mutation_p.K943N	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	943					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)			GGCTATTGTTCTTAAAAGTCA	0.473																																					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.(2827-2829)aaG>aaT		G protein-coupled receptor 116							108	100	103					6																	46826811		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826811C>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.2829G>T	6.37:g.46826811C>A	ENSP00000283296:p.Lys943Asn		Somatic				GPR116_ENST00000456426.2_Missense_Mutation_p.K801N|GPR116_ENST00000362015.4_Missense_Mutation_p.K943N|GPR116_ENST00000265417.7_Missense_Mutation_p.K943N|GPR116_ENST00000545669.1_Missense_Mutation_p.K372N	p.K943N	NM_001098518.1	NP_001091988.1	WXS	Illumina GAIIx	Phase_I	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3117	-			943					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.2829G>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421952	0.25639	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.32	2.54	0.30619	.	0.095575	0.45867	D	0.000328	T	0.35189	0.0923	M	0.66939	2.045	0.28758	N	0.901065	P;B;D;B;D	0.65815	0.539;0.249;0.995;0.364;0.995	B;B;P;B;P	0.59357	0.19;0.085;0.856;0.176;0.856	T	0.18272	-1.0342	10	0.46703	T	0.11	-23.6097	5.047	0.14488	0.1336:0.5011:0.0:0.3653	.	372;498;943;801;943	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	N	943;943;943;801;314;943;372	ENSP00000283296:K943N;ENSP00000354563:K943N;ENSP00000412866:K801N;ENSP00000265417:K943N;ENSP00000441581:K372N	ENSP00000265417:K943N	K	-	3	2	GPR116	46934770	0.047000	0.20315	0.996000	0.52242	0.757000	0.42996	-0.247000	0.08866	0.225000	0.20959	0.555000	0.69702	AAG		0.473	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		24	45	1	0	7.33628e-21	1	1.00811e-20	24	45					A	46826811	C	A	46826811	3	1	48	1	0	0	0	0	1	0	0	0	6641	912	32	2	1231	2	GPR116	6	46826811	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	144587	46826811	124288256	1721	6189										
GPR110	266977	broad.mit.edu	37	chr6	46979827	46979827	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcgacaccaccgaagccagAttccccactgtggttgatgg	10	13	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46979827A>C	ENST00000371253.2	-	10	1247	c.1032T>G	c.(1030-1032)aaT>aaG	p.N344K	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.N147K	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	344					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						CCGAAGCCAGATTCCCCACTG	0.483																																						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.(1030-1032)aaT>aaG		G protein-coupled receptor 110							197	153	168					6																	46979827		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46979827A>C	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.1032T>G	6.37:g.46979827A>C	ENSP00000360299:p.Asn344Lys		Somatic				GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.N147K	p.N344K	NM_153840.2	NP_722582.2	WXS	Illumina GAIIx	Phase_I	Q5T601	GP110_HUMAN			10	1247	-			344					Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1032T>G	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.560750	0.45590	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.35421	1.31;1.31	6.06	-1.2	0.09554	.	0.267573	0.32503	N	0.006017	T	0.18341	0.0440	M	0.71581	2.175	0.27847	N	0.940894	P	0.39665	0.682	B	0.37239	0.244	T	0.19811	-1.0294	10	0.66056	D	0.02	-17.1955	11.3904	0.49811	0.3115:0.0:0.6885:0.0	.	344	Q5T601	GP110_HUMAN	K	344;344;147	ENSP00000360299:N344K;ENSP00000283297:N147K	ENSP00000283297:N147K	N	-	3	2	GPR110	47087786	0.425000	0.25498	0.995000	0.50966	0.412000	0.31113	-0.090000	0.11163	-0.122000	0.11766	-0.256000	0.11100	AAT		0.483	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		40	65	0	0	0	1	0	40	65					C	46979827	A	C	46979827	3	2	48	1	0	0	0	0	1	0	0	0	6635	330	12	4	1724	4	GPR110	6	46979827	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	153016	46979827	124135240	1722	6190										
GPR110	266977	broad.mit.edu	37	chr6	46995498	46995498	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttttgatgccatcatttttCtgttaaaaagaaaaaaaata	5	4	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46995498C>T	ENST00000371253.2	-	3	285		c.e3-1		GPR110_ENST00000371243.2_Splice_Site|GPR110_ENST00000449332.2_Intron	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110						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						CATCATTTTTCTGTTAAAAAG	0.343																																						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.e3-1		G protein-coupled receptor 110							101	97	98					6																	46995498		2202	4298	6500	SO:0001630	splice_region_variant	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46995498C>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.70-1G>A	6.37:g.46995498C>T			Somatic				GPR110_ENST00000449332.2_Intron|GPR110_ENST00000371243.2_Splice_Site		NM_153840.2	NP_722582.2	WXS	Illumina GAIIx	Phase_I	Q5T601	GP110_HUMAN			3	285	-								Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Splice_Site	SNP	ENST00000371253.2	37		CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740788	0.49151	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6374	0.68699	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPR110	47103457	1.000000	0.71417	0.999000	0.59377	0.629000	0.37895	3.347000	0.52200	2.828000	0.97474	0.655000	0.94253	.		0.343	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840	Intron	8	36	0	0	0	1	0	8	36					T	46995498	C	T	46995498	5	4	48	1	0	0	0	0	0	0	1	0	6635	927	32	3	2765	3	GPR110	6	46995498	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	15671	46995498	124119569	1723	6191										
TNFRSF21	27242	broad.mit.edu	37	chr6	47200581	47200581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctcttgactccaataatttCgaatagccggtctagtttgt	8	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47200581C>T	ENST00000296861.2	-	6	2281	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	630					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)		p.E630K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCAATAATTTCGAATAGCCGG	0.493																																						ENST00000296861.2																			1	Substitution - Missense(1)	p.E630K(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(1888-1890)Gaa>Aaa		tumor necrosis factor receptor superfamily, member 21							109	120	116					6																	47200581		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47200581C>T	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.1888G>A	6.37:g.47200581C>T	ENSP00000296861:p.Glu630Lys		Somatic					p.E630K	NM_014452.3	NP_055267.1	WXS	Illumina GAIIx	Phase_I	O75509	TNR21_HUMAN	Lung(136;0.189)		6	2281	-			630					B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.1888G>A	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125369	0.94429	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.70282	-0.47	5.95	5.95	0.96441	.	0.045975	0.85682	D	0.000000	T	0.70254	0.3203	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	P	0.62435	0.902	T	0.74200	-0.3742	10	0.87932	D	0	.	18.5737	0.91147	0.0:1.0:0.0:0.0	.	630	O75509	TNR21_HUMAN	K	630;319	ENSP00000296861:E630K	ENSP00000296861:E630K	E	-	1	0	TNFRSF21	47308540	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GAA		0.493	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		73	117	0	0	0	1	0	73	117					T	47200581	C	T	47200581	3	4	48	1	0	0	0	0	1	0	0	0	16310	893	31	1	83	1	TNFRSF21	6	47200581	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	205083	47200581	123914486	1724	6192										
CD2AP	23607	broad.mit.edu	37	chr6	47547185	47547185	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaaggagtatttccagacaAttttgctgtccagataaatg	9	6	0	3	rs377756180		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47547185A>C	ENST00000359314.5	+	9	1424	c.968A>C	c.(967-969)aAt>aCt	p.N323T		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	323	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.N323I(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTCCAGACAATTTTGCTGTC	0.348																																						ENST00000359314.5																			1	Substitution - Missense(1)	p.N323I(1)	large_intestine(1)	kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(967-969)aAt>aCt		CD2-associated protein							102	106	105					6																	47547185		2203	4300	6503	SO:0001583	missense	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47547185A>C	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.968A>C	6.37:g.47547185A>C	ENSP00000352264:p.Asn323Thr		Somatic					p.N323T	NM_012120.2	NP_036252.1	WXS	Illumina GAIIx	Phase_I	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		9	1424	+			323			SH3 3.		A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	c.968A>C	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.103715	0.76983	.	.	ENSG00000198087	ENST00000359314	T	0.36878	1.23	5.47	4.31	0.51392	Src homology-3 domain (4);	0.043402	0.85682	D	0.000000	T	0.51753	0.1693	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58885	-0.7557	10	0.54805	T	0.06	-21.557	11.1065	0.48205	0.9278:0.0:0.0722:0.0	.	323	Q9Y5K6	CD2AP_HUMAN	T	323	ENSP00000352264:N323T	ENSP00000352264:N323T	N	+	2	0	CD2AP	47655144	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.897000	0.87356	0.925000	0.37094	0.477000	0.44152	AAT		0.348	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			19	29	0	0	0	1	0	19	29					C	47547185	A	C	47547185	3	2	48	1	0	0	0	0	1	0	0	0	2996	101	4	4	1002	4	CD2AP	6	47547185	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	346604	47547185	123567882	1725	6193										
OPN5	221391	broad.mit.edu	37	chr6	47776108	47776108	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtggtttgaaagcaaccaaGaagaagtctctggaaggctt	13	6	1	3	rs374749183		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47776108G>T	ENST00000371211.2	+	5	1003	c.975G>T	c.(973-975)aaG>aaT	p.K325N	OPN5_ENST00000489301.2_Missense_Mutation_p.K325N|OPN5_ENST00000393699.2_Missense_Mutation_p.K325N|OPN5_ENST00000244799.4_3'UTR	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	325					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AAGCAACCAAGAAGAAGTCTC	0.413																																					Melanoma(28;740 973 10870 42660 45347)	ENST00000489301.2																			0				endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						c.(973-975)aaG>aaT		opsin 5							92	95	94					6																	47776108		2203	4300	6503	SO:0001583	missense	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47776108G>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.975G>T	6.37:g.47776108G>T	ENSP00000360255:p.Lys325Asn		Somatic				OPN5_ENST00000371211.2_Missense_Mutation_p.K325N|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.K325N	p.K325N			WXS	Illumina GAIIx	Phase_I	Q6U736	OPN5_HUMAN			5	1060	+			325					A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	c.975G>T	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360067	0.41801	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.67865	-0.24;-0.29;-0.27	5.29	4.41	0.53225	.	0.402882	0.29328	N	0.012467	T	0.34395	0.0896	L	0.29908	0.895	0.36288	D	0.856238	P	0.34462	0.454	B	0.27380	0.079	T	0.37596	-0.9699	10	0.48119	T	0.1	.	10.4433	0.44479	0.153:0.0:0.847:0.0	.	325	Q6U736	OPN5_HUMAN	N	325	ENSP00000426991:K325N;ENSP00000360255:K325N;ENSP00000377302:K325N	ENSP00000360255:K325N	K	+	3	2	OPN5	47884067	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.808000	0.55598	1.346000	0.45694	0.650000	0.86243	AAG		0.413	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		7	68	1	0	8.12818e-05	1	8.79784e-05	7	68					T	47776108	G	T	47776108	3	4	48	1	0	0	0	0	1	0	0	0	10892	933	33	2	993	2	OPN5	6	47776108	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	228923	47776108	123338959	1726	6194										
C6orf138	442213	broad.mit.edu	37	chr6	47846423	47846423	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atggcgaaattcaaggtgtaGataaggcacaagatagaaat	11	4	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47846423G>T	ENST00000339488.4	-	3	2190	c.2157C>A	c.(2155-2157)atC>atA	p.I719I		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	719						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TCAAGGTGTAGATAAGGCACA	0.438																																						ENST00000339488.4																			0											c.(2155-2157)atC>atA		patched domain containing 4							111	102	105					6																	47846423		2203	4300	6503	SO:0001819	synonymous_variant	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846423G>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.2157C>A	6.37:g.47846423G>T			Somatic					p.I719I	NM_001013732.3	NP_001013754.3	WXS	Illumina GAIIx	Phase_I	Q6ZW05	CF138_HUMAN			3	2190	-			719					B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	c.2157C>A	CCDS34473.2																																																																																				0.438	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		13	28	1	0	5.50884e-06	1	6.10489e-06	13	28					T	47846423	G	T	47846423	2	4	48	1	0	0	0	0	0	0	0	1	2334	932	33	2		2	C6orf138	6	47846423	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	70315	47846423	123268644	1727	6195										
C6orf138	442213	broad.mit.edu	37	chr6	47846815	47846815	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagaagatgatatcatttcGaaaatgctggaattctggct	11	5	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47846815G>A	ENST00000339488.4	-	3	1798	c.1765C>T	c.(1765-1767)Cga>Tga	p.R589*		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	589						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.R589*(1)									ATATCATTTCGAAAATGCTGG	0.423																																						ENST00000339488.4																			1	Substitution - Nonsense(1)	p.R589*(1)	large_intestine(1)								c.(1765-1767)Cga>Tga		patched domain containing 4							56	57	57					6																	47846815		2203	4300	6503	SO:0001587	stop_gained	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846815G>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.1765C>T	6.37:g.47846815G>A	ENSP00000341914:p.Arg589*		Somatic					p.R589*	NM_001013732.3	NP_001013754.3	WXS	Illumina GAIIx	Phase_I	Q6ZW05	CF138_HUMAN			3	1798	-			589					B0QZ29|B4DRK3|Q5T884	Nonsense_Mutation	SNP	ENST00000339488.4	37	c.1765C>T	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503325	0.85176	.	.	ENSG00000244694	ENST00000339488	.	.	.	5.48	5.48	0.80851	.	0.411520	0.23712	N	0.045315	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	12.4608	0.55731	0.0:0.0:0.7182:0.2818	.	.	.	.	X	589	.	ENSP00000341914:R589X	R	-	1	2	C6orf138	47954774	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.435000	0.59941	2.592000	0.87571	0.650000	0.86243	CGA		0.423	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		5	26	0	0	0	1	0	5	26					A	47846815	G	A	47846815	4	1	48	1	0	0	0	0	0	1	0	0	2334	1066	37	1	779	1	C6orf138	6	47846815	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	392	47846815	123268252	1728	6196										
C6orf138	442213	broad.mit.edu	37	chr6	47976683	47976683	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcttccttataagcttacaGaactcattctcccacttctc	3	14	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47976683G>T	ENST00000339488.4	-	2	627	c.594C>A	c.(592-594)ttC>ttA	p.F198L	PTCHD4_ENST00000543600.1_Missense_Mutation_p.F181L	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	198						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TAAGCTTACAGAACTCATTCT	0.502																																						ENST00000543600.1																			0											c.(541-543)ttC>ttA		patched domain containing 4							52	50	51					6																	47976683		1882	4128	6010	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47976683G>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.594C>A	6.37:g.47976683G>T	ENSP00000341914:p.Phe198Leu		Somatic				PTCHD4_ENST00000339488.4_Missense_Mutation_p.F198L	p.F181L			WXS	Illumina GAIIx	Phase_I	Q6ZW05	CF138_HUMAN			2	582	-			198					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.543C>A	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.185529|4.185529	0.78677|0.78677	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000339488;ENST00000543600|ENST00000398738	T;T|.	0.80304|.	-1.36;-1.36|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60077|0.60077	0.2241|0.2241	M|M	0.72118|0.72118	2.19|2.19	0.58432|0.58432	D|D	0.999998|0.999998	B;D|.	0.63046|.	0.178;0.992|.	B;D|.	0.76071|.	0.28;0.987|.	T|T	0.61317|0.61317	-0.7087|-0.7087	10|5	0.21540|.	T|.	0.41|.	.|.	11.0431|11.0431	0.47842|0.47842	0.1367:0.0:0.8633:0.0|0.1367:0.0:0.8633:0.0	.|.	198;181|.	Q6ZW05;B0QZ29|.	CF138_HUMAN;.|.	L|M	198;181|198	ENSP00000341914:F198L;ENSP00000439864:F181L|.	ENSP00000341914:F198L|.	F|L	-|-	3|1	2|2	C6orf138|C6orf138	48084642|48084642	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.643000|4.643000	0.61390|0.61390	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	TTC|CTG		0.502	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		14	25	1	0	4.3838e-07	1	4.998e-07	14	25					T	47976683	G	T	47976683	3	4	48	1	0	0	0	0	1	0	0	0	2334	933	33	2	1954	2	C6orf138	6	47976683	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	129868	47976683	123138384	1729	6197										
CRISP1	167	broad.mit.edu	37	chr6	49803104	49803104	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagtggttgcatcccagataAtggacttgtatgtcacagtc	11	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:49803104A>G	ENST00000335847.4	-	8	776	c.675T>C	c.(673-675)caT>caC	p.H225H	CRISP1_ENST00000329411.5_3'UTR|CRISP1_ENST00000505118.1_Silent_p.H225H|CRISP1_ENST00000536021.1_3'UTR|CRISP1_ENST00000507853.1_3'UTR|CRISP1_ENST00000355791.2_Silent_p.H225H	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	225	ShKT. {ECO:0000255|PROSITE- ProRule:PRU01005}.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					ATCCCAGATAATGGACTTGTA	0.363																																						ENST00000335847.4																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27						c.(673-675)caT>caC		cysteine-rich secretory protein 1							189	176	180					6																	49803104		2203	4300	6503	SO:0001819	synonymous_variant	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49803104A>G	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"acidic epididymal glycoprotein-like 1"	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.675T>C	6.37:g.49803104A>G			Somatic				CRISP1_ENST00000536021.1_3'UTR|CRISP1_ENST00000329411.5_3'UTR|CRISP1_ENST00000355791.2_Silent_p.H225H|CRISP1_ENST00000505118.1_Silent_p.H225H|CRISP1_ENST00000507853.1_3'UTR	p.H225H	NM_001131.2	NP_001122.2	WXS	Illumina GAIIx	Phase_I	P54107	CRIS1_HUMAN			8	776	-	Lung NSC(77;0.0358)		225					B5BU98|O00698|Q13248|Q14082|Q96SF6	Silent	SNP	ENST00000335847.4	37	c.675T>C	CCDS4931.1																																																																																				0.363	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		6	88	0	0	0	1	0	6	88					G	49803104	A	G	49803104	2	3	48	1	0	0	0	0	0	0	0	1	3881	98	4	4		4	CRISP1	6	49803104	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1826421	49803104	121311963	1730	6198										
PKHD1	5314	broad.mit.edu	37	chr6	51524480	51524480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttccccaatagaaaaaagcGcaaaacttgaggagtttgat	9	7	0	3	rs148617572		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:51524480G>A	ENST00000371117.3	-	61	10719	c.10444C>T	c.(10444-10446)Cgc>Tgc	p.R3482C		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3482			R -> C (in ARPKD). {ECO:0000269|PubMed:12506140, ECO:0000269|PubMed:15108281}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.R3482C(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)					AGAAAAAAGCGCAAAACTTGA	0.443																																						ENST00000371117.3																			1	Substitution - Missense(1)	p.R3482C(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	GRCh37	CM032336	PKHD1	M	rs148617572	c.(10444-10446)Cgc>Tgc		polycystic kidney and hepatic disease 1 (autosomal recessive)		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	76	78	78		10444	3.9	0.5	6	dbSNP_134	78	0,8600		0,0,4300	no	missense	PKHD1	NM_138694.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	3482/4075	51524480	1,13005	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.chr6:51524480G>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.10444C>T	6.37:g.51524480G>A	ENSP00000360158:p.Arg3482Cys		Somatic					p.R3482C	NM_138694.3	NP_619639.3	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			61	10719	-	Lung NSC(77;0.0605)		3482		R -> C (in ARPKD).			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.10444C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201621	0.58234	2.27E-4	0.0	ENSG00000170927	ENST00000371117	D	0.94184	-3.37	5.72	3.89	0.44902	.	0.341409	0.25765	N	0.028456	D	0.90045	0.6891	L	0.34521	1.04	0.29128	N	0.879818	D	0.89917	1.0	P	0.57846	0.828	D	0.86300	0.1679	10	0.66056	D	0.02	.	13.3409	0.60545	0.0:0.0:0.4578:0.5422	.	3482	P08F94	PKHD1_HUMAN	C	3482	ENSP00000360158:R3482C	ENSP00000360158:R3482C	R	-	1	0	PKHD1	51632439	0.999000	0.42202	0.472000	0.27241	0.911000	0.54048	2.559000	0.45888	0.717000	0.32145	0.655000	0.94253	CGC		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		30	40	0	0	0	1	0	30	40					A	51524480	G	A	51524480	3	1	48	1	0	0	0	0	1	0	0	0	11980	1087	38	1	1808	1	PKHD1	6	51524480	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1721376	51524480	119590587	1731	6199										
PKHD1	5314	broad.mit.edu	37	chr6	51524753	51524753	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggtatgtacatttctgttCttctctaaatgtacctataa	5	7	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:51524753C>T	ENST00000371117.3	-	61	10446	c.10171G>A	c.(10171-10173)Gaa>Aaa	p.E3391K		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3391					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.E3391*(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)					CATTTCTGTTCTTCTCTAAAT	0.348																																						ENST00000371117.3																			1	Substitution - Nonsense(1)	p.E3391*(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(10171-10173)Gaa>Aaa		polycystic kidney and hepatic disease 1 (autosomal recessive)							36	31	32					6																	51524753		2203	4299	6502	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.chr6:51524753C>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.10171G>A	6.37:g.51524753C>T	ENSP00000360158:p.Glu3391Lys		Somatic					p.E3391K	NM_138694.3	NP_619639.3	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			61	10446	-	Lung NSC(77;0.0605)		3391					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.10171G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470775	0.43942	.	.	ENSG00000170927	ENST00000371117	D	0.85861	-2.04	5.38	4.48	0.54585	.	0.226336	0.38005	N	0.001848	T	0.66147	0.2760	L	0.29908	0.895	0.80722	D	1	B	0.25719	0.132	B	0.20184	0.028	T	0.68281	-0.5450	10	0.59425	D	0.04	.	11.791	0.52070	0.0:0.9101:0.0:0.0899	.	3391	P08F94	PKHD1_HUMAN	K	3391	ENSP00000360158:E3391K	ENSP00000360158:E3391K	E	-	1	0	PKHD1	51632712	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.592000	0.53993	1.195000	0.43115	0.655000	0.94253	GAA		0.348	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		9	14	0	0	0	1	0	9	14					T	51524753	C	T	51524753	3	4	48	1	0	0	0	0	1	0	0	0	11980	922	32	3	2081	3	PKHD1	6	51524753	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	273	51524753	119590314	1732	6200										
PKHD1	5314	broad.mit.edu	37	chr6	51612695	51612695	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggccacagaataccaattCgacctcctcttggattggag	9	12	1	1	rs146649803		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:51612695C>T	ENST00000371117.3	-	58	9994	c.9719G>A	c.(9718-9720)cGa>cAa	p.R3240Q	PKHD1_ENST00000340994.4_Missense_Mutation_p.R3240Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3240					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.R3240Q(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)					AATACCAATTCGACCTCCTCT	0.478																																						ENST00000371117.3																			1	Substitution - Missense(1)	p.R3240Q(1)	skin(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	GRCh37	CM051180|CM051181	PKHD1	M	rs146649803	c.(9718-9720)cGa>cAa		polycystic kidney and hepatic disease 1 (autosomal recessive)							118	112	114					6																	51612695		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.chr6:51612695C>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.9719G>A	6.37:g.51612695C>T	ENSP00000360158:p.Arg3240Gln		Somatic				PKHD1_ENST00000340994.4_Missense_Mutation_p.R3240Q	p.R3240Q	NM_138694.3	NP_619639.3	WXS	Illumina GAIIx	Phase_I	P08F94	PKHD1_HUMAN			58	9994	-	Lung NSC(77;0.0605)		3240					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9719G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082395	0.76528	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88277	-2.17;-2.36	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000004	D	0.93996	0.8077	M	0.79475	2.455	0.36133	D	0.846291	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.987;0.998	D	0.94433	0.7651	10	0.66056	D	0.02	.	18.9119	0.92489	0.0:1.0:0.0:0.0	.	3240;3240;3240	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	Q	3240	ENSP00000360158:R3240Q;ENSP00000341097:R3240Q	ENSP00000341097:R3240Q	R	-	2	0	PKHD1	51720654	1.000000	0.71417	0.993000	0.49108	0.394000	0.30568	5.086000	0.64474	2.712000	0.92718	0.650000	0.86243	CGA		0.478	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		47	62	0	0	0	1	0	47	62					T	51612695	C	T	51612695	3	4	48	1	0	0	0	0	1	0	0	0	11980	884	31	1	2584	1	PKHD1	6	51612695	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	87942	51612695	119502372	1733	6201										
MCM3	4172	broad.mit.edu	37	chr6	52138700	52138700	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaatgttctccattggagtCttatactggtcatactgggg	10	9	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:52138700C>T	ENST00000229854.7	-	10	1465	c.1389G>A	c.(1387-1389)aaG>aaA	p.K463K	MCM3_ENST00000596288.1_Silent_p.K508K|MCM3_ENST00000419835.2_Silent_p.K417K|MCM3_ENST00000476448.1_5'Flank			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	463	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CCATTGGAGTCTTATACTGGT	0.483																																						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.(1522-1524)aaG>aaA		minichromosome maintenance complex component 3							125	96	106					6																	52138700		2203	4300	6503	SO:0001819	synonymous_variant	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52138700C>T	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1389G>A	6.37:g.52138700C>T			Somatic				MCM3_ENST00000419835.2_Silent_p.K417K|MCM3_ENST00000229854.7_Silent_p.K463K	p.K508K	NM_002388.4	NP_002379.3	WXS	Illumina GAIIx	Phase_I	P25205	MCM3_HUMAN			10	1551	-	Lung NSC(77;0.0931)		463					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Silent	SNP	ENST00000229854.7	37	c.1524G>A																																																																																					0.483	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			20	41	0	0	0	1	0	20	41					T	52138700	C	T	52138700	2	4	48	1	0	0	0	0	0	0	0	1	9396	912	32	3		3	MCM3	6	52138700	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	526005	52138700	118976367	1734	6202										
LRRC1	55227	broad.mit.edu	37	chr6	53785453	53785453	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgctgtggtgcactggagaActtggtaaatgatgtctctg	13	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:53785453A>C	ENST00000370888.1	+	13	1587	c.1310A>C	c.(1309-1311)aAc>aCc	p.N437T	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	437						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GCACTGGAGAACTTGGTAAAT	0.463																																						ENST00000370888.1																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1309-1311)aAc>aCc		leucine rich repeat containing 1							144	148	147					6																	53785453		2073	4219	6292	SO:0001583	missense	55227					cytoplasm|membrane		g.chr6:53785453A>C	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1310A>C	6.37:g.53785453A>C	ENSP00000359925:p.Asn437Thr		Somatic				RP3-523E19.2_ENST00000474641.2_RNA	p.N437T	NM_018214.4	NP_060684.4	WXS	Illumina GAIIx	Phase_I	Q9BTT6	LRRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0745)	13	1587	+	Lung NSC(77;0.0147)		437					Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	c.1310A>C	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	A	14.46	2.540684	0.45280	.	.	ENSG00000137269	ENST00000370888	T	0.76578	-1.03	5.92	0.214	0.15249	.	0.201928	0.50627	D	0.000114	T	0.36799	0.0980	N	0.05230	-0.09	0.80722	D	1	B	0.15141	0.012	B	0.15870	0.014	T	0.16247	-1.0409	10	0.56958	D	0.05	.	9.1134	0.36741	0.431:0.0:0.569:0.0	.	437	Q9BTT6	LRRC1_HUMAN	T	437	ENSP00000359925:N437T	ENSP00000359925:N437T	N	+	2	0	LRRC1	53893412	0.998000	0.40836	0.794000	0.32065	0.972000	0.66771	1.554000	0.36266	-0.233000	0.09797	-0.182000	0.12963	AAC		0.463	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168		10	46	0	0	0	1	0	10	46					C	53785453	A	C	53785453	3	2	48	1	0	0	0	0	1	0	0	0	8975	43	2	4	1360	4	LRRC1	6	53785453	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1646753	53785453	117329614	1735	6203										
FAM83B	222584	broad.mit.edu	37	chr6	54804852	54804852	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtcacggatacaaacctcaTtttgttcctaactttaatgg	6	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:54804852T>G	ENST00000306858.7	+	5	1199	c.1083T>G	c.(1081-1083)caT>caG	p.H361Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	361										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)					ACAAACCTCATTTTGTTCCTA	0.343																																						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.(1081-1083)caT>caG		family with sequence similarity 83, member B							62	61	61					6																	54804852		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54804852T>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.1083T>G	6.37:g.54804852T>G	ENSP00000304078:p.His361Gln		Somatic					p.H361Q	NM_001010872.1	NP_001010872.1	WXS	Illumina GAIIx	Phase_I	Q5T0W9	FA83B_HUMAN			5	1199	+	Lung NSC(77;0.0178)|Renal(3;0.122)		361					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1083T>G	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.258098	0.23051	.	.	ENSG00000168143	ENST00000306858	T	0.06608	3.28	5.28	0.0215	0.14129	.	0.224065	0.39020	N	0.001496	T	0.01976	0.0062	M	0.65975	2.015	0.35279	D	0.78118	B	0.14438	0.01	B	0.10450	0.005	T	0.38134	-0.9675	10	0.29301	T	0.29	-24.1854	1.6382	0.02747	0.1158:0.1868:0.2155:0.4819	.	361	Q5T0W9	FA83B_HUMAN	Q	361	ENSP00000304078:H361Q	ENSP00000304078:H361Q	H	+	3	2	FAM83B	54912811	0.981000	0.34729	0.987000	0.45799	0.380000	0.30137	0.032000	0.13732	-0.140000	0.11394	-0.636000	0.03981	CAT		0.343	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		6	65	0	0	0	1	0	6	65					G	54804852	T	G	54804852	3	3	48	1	0	0	0	0	1	0	0	0	5642	1490	52	4	1097	4	FAM83B	6	54804852	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1019399	54804852	116310215	1736	6204										
FAM83B	222584	broad.mit.edu	37	chr6	54806276	54806276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagaaagcattcttcctcatCgaattctcaaggcagcatcc	6	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:54806276C>T	ENST00000306858.7	+	5	2623	c.2507C>T	c.(2506-2508)tCg>tTg	p.S836L	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	836	Poly-Ser.									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)					TCTTCCTCATCGAATTCTCAA	0.383																																						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.(2506-2508)tCg>tTg		family with sequence similarity 83, member B							48	45	46					6																	54806276		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54806276C>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.2507C>T	6.37:g.54806276C>T	ENSP00000304078:p.Ser836Leu		Somatic					p.S836L	NM_001010872.1	NP_001010872.1	WXS	Illumina GAIIx	Phase_I	Q5T0W9	FA83B_HUMAN			5	2623	+	Lung NSC(77;0.0178)|Renal(3;0.122)		836			Poly-Ser.		Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.2507C>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264750	0.23136	.	.	ENSG00000168143	ENST00000306858	T	0.09073	3.02	5.56	4.7	0.59300	.	0.195450	0.36066	N	0.002811	T	0.06645	0.0170	M	0.64997	1.995	0.21386	N	0.999703	D	0.65815	0.995	P	0.45119	0.47	T	0.04103	-1.0977	10	0.87932	D	0	-15.8173	14.7242	0.69332	0.0:0.9303:0.0:0.0697	.	836	Q5T0W9	FA83B_HUMAN	L	836	ENSP00000304078:S836L	ENSP00000304078:S836L	S	+	2	0	FAM83B	54914235	0.985000	0.35326	0.673000	0.29887	0.252000	0.25951	2.711000	0.47177	1.368000	0.46115	-0.123000	0.14984	TCG		0.383	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		12	23	0	0	0	1	0	12	23					T	54806276	C	T	54806276	3	4	48	1	0	0	0	0	1	0	0	0	5642	893	31	1	2521	1	FAM83B	6	54806276	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1424	54806276	116308791	1737	6205										
HCRTR2	3062	broad.mit.edu	37	chr6	55039482	55039482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccctttttaaaccccaccGactatgacgacgaggaattc	7	13	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:55039482G>A	ENST00000370862.3	+	1	433	c.97G>A	c.(97-99)Gac>Aac	p.D33N		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	33					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)			AAACCCCACCGACTATGACGA	0.537																																						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.(97-99)Gac>Aac		hypocretin (orexin) receptor 2							144	129	134					6																	55039482		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039482G>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.97G>A	6.37:g.55039482G>A	ENSP00000359899:p.Asp33Asn		Somatic					p.D33N	NM_001526.3	NP_001517.2	WXS	Illumina GAIIx	Phase_I	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	433	+	Lung NSC(77;0.107)|Renal(3;0.122)		33					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.97G>A	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505518	0.44558	.	.	ENSG00000137252	ENST00000370862	T	0.38240	1.15	4.99	4.09	0.47781	.	0.283281	0.34314	N	0.004074	T	0.17238	0.0414	L	0.48642	1.525	0.36284	D	0.855999	B	0.13594	0.008	B	0.08055	0.003	T	0.04481	-1.0948	10	0.13470	T	0.59	.	16.8672	0.86032	0.0:0.1389:0.8611:0.0	.	33	O43614	OX2R_HUMAN	N	33	ENSP00000359899:D33N	ENSP00000359899:D33N	D	+	1	0	HCRTR2	55147441	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	4.713000	0.61895	2.599000	0.87857	0.563000	0.77884	GAC		0.537	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			48	97	0	0	0	1	0	48	97					A	55039482	G	A	55039482	3	1	48	1	0	0	0	0	1	0	0	0	7011	1058	37	1	99	1	HCRTR2	6	55039482	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	233206	55039482	116075585	1738	6206										
HCRTR2	3062	broad.mit.edu	37	chr6	55113604	55113604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtccctttgcaaagtgattCcttatctacaggtaattgtt	7	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:55113604C>T	ENST00000370862.3	+	2	727	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	131					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)			CAAAGTGATTCCTTATCTACA	0.428																																						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.(391-393)Cct>Tct		hypocretin (orexin) receptor 2							211	201	204					6																	55113604		2203	4299	6502	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113604C>T	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.391C>T	6.37:g.55113604C>T	ENSP00000359899:p.Pro131Ser		Somatic					p.P131S	NM_001526.3	NP_001517.2	WXS	Illumina GAIIx	Phase_I	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	727	+	Lung NSC(77;0.107)|Renal(3;0.122)		131					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.391C>T	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344117	0.61073	.	.	ENSG00000137252	ENST00000370862	T	0.19105	2.17	4.65	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.053209	0.85682	N	0.000000	T	0.28896	0.0717	M	0.66297	2.02	0.80722	D	1	P;D	0.62365	0.898;0.991	P;D	0.65323	0.823;0.934	T	0.03121	-1.1070	10	0.40728	T	0.16	.	13.0928	0.59174	0.0:0.921:0.0:0.079	.	131;131	Q548Y0;O43614	.;OX2R_HUMAN	S	131	ENSP00000359899:P131S	ENSP00000359899:P131S	P	+	1	0	HCRTR2	55221563	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	7.445000	0.80570	1.072000	0.40860	0.555000	0.69702	CCT		0.428	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			46	84	0	0	0	1	0	46	84					T	55113604	C	T	55113604	3	4	48	1	0	0	0	0	1	0	0	0	7011	855	30	3	397	3	HCRTR2	6	55113604	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	74122	55113604	116001463	1739	6207										
DST	667	broad.mit.edu	37	chr6	56417403	56417403	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catcaaactctgcgaactgaGaaaacatttctcgaatggta	7	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56417403G>T	ENST00000361203.3	-	57	15561	c.15554C>A	c.(15553-15555)tCt>tAt	p.S5185Y	DST_ENST00000421834.2_Missense_Mutation_p.S3099Y|DST_ENST00000244364.6_Missense_Mutation_p.S2773Y|DST_ENST00000370754.5_Missense_Mutation_p.S5365Y|DST_ENST00000370769.4_Missense_Mutation_p.S5187Y|DST_ENST00000370788.2_Missense_Mutation_p.S3099Y|DST_ENST00000446842.2_Missense_Mutation_p.S4861Y|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5185					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)			TGCGAACTGAGAAAACATTTC	0.408																																						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.(16093-16095)tCt>tAt		dystonin							59	55	57					6																	56417403		1869	4104	5973	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.chr6:56417403G>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.15554C>A	6.37:g.56417403G>T	ENSP00000354508:p.Ser5185Tyr		Somatic				DST_ENST00000361203.3_Missense_Mutation_p.S5185Y|DST_ENST00000244364.6_Missense_Mutation_p.S2773Y|DST_ENST00000446842.2_Missense_Mutation_p.S4861Y|DST_ENST00000370769.4_Missense_Mutation_p.S5187Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.S3099Y|DST_ENST00000370788.2_Missense_Mutation_p.S3099Y	p.S5365Y			WXS	Illumina GAIIx	Phase_I	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		61	16093	-	Lung NSC(77;0.103)		5185					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.16094C>A		.	.	.	.	.	.	.	.	.	.	G	17.86	3.491872	0.64074	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21	6.17	6.17	0.99709	.	0.116346	0.39020	N	0.001483	T	0.59770	0.2218	M	0.78801	2.425	0.28106	N	0.931185	D;D;D;D;D	0.89917	0.999;0.997;0.999;0.979;1.0	D;D;D;P;D	0.83275	0.996;0.947;0.973;0.642;0.976	T	0.58967	-0.7542	9	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	3099;5187;5365;5185;2773	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	Y	2773;5365;5187;3099;4861;3099;5185	ENSP00000244364:S2773Y;ENSP00000359790:S5365Y;ENSP00000359805:S5187Y;ENSP00000400883:S3099Y;ENSP00000393645:S4861Y;ENSP00000359824:S3099Y;ENSP00000354508:S5185Y	ENSP00000244364:S2773Y	S	-	2	0	DST	56525362	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.686000	0.74548	2.941000	0.99782	0.655000	0.94253	TCT		0.408	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		15	16	1	0	0.000219431	1	0.000235335	15	16					T	56417403	G	T	56417403	3	4	48	1	0	0	0	0	1	0	0	0	4785	942	33	2	7369	2	DST	6	56417403	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1303799	56417403	114697664	1740	6208										
DST	667	broad.mit.edu	37	chr6	56484298	56484298	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctaattctttctcatctcGaaaagaatgaatttgtgaat	5	6	4	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56484298G>A	ENST00000370765.6	-	23	4641	c.4534C>T	c.(4534-4536)Cga>Tga	p.R1512*	DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCTCATCTCGAAAAGAATGA	0.338																																						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.(4534-4536)Cga>Tga		dystonin																																				SO:0001587	stop_gained	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56484298G>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.4534C>T	6.37:g.56484298G>A	ENSP00000359801:p.Arg1512*		Somatic				DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron	p.R1512*	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	4641	-	Lung NSC(77;0.103)		5191					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000370765.6	37	c.4534C>T	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	G	37	6.401494	0.97537	.	.	ENSG00000151914	ENST00000370765	.	.	.	5.46	2.7	0.31948	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	9.7191	0.40291	0.0662:0.0:0.6827:0.2511	.	.	.	.	X	1512	.	ENSP00000359801:R1512X	R	-	1	2	DST	56592257	0.055000	0.20627	0.000000	0.03702	0.004000	0.04260	2.415000	0.44635	0.262000	0.21774	-0.238000	0.12139	CGA		0.338	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		8	21	0	0	0	1	0	8	21					A	56484298	G	A	56484298	4	1	48	1	0	0	0	0	0	1	0	0	4785	1066	37	1	15869	1	DST	6	56484298	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	66895	56484298	114630769	1741	6209										
DST	667	broad.mit.edu	37	chr6	56485398	56485398	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctttagttcagctaccattCtttccaactcacttatcttt	2	12	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56485398C>A	ENST00000370765.6	-	23	3541	c.3434G>T	c.(3433-3435)aGa>aTa	p.R1145I	DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCTACCATTCTTTCCAACTC	0.433																																						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.(3433-3435)aGa>aTa		dystonin							179	172	175					6																	56485398		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.chr6:56485398C>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.3434G>T	6.37:g.56485398C>A	ENSP00000359801:p.Arg1145Ile		Somatic				DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron	p.R1145I	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	3541	-	Lung NSC(77;0.103)		1476					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.3434G>T	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	3.298	-0.143568	0.06627	.	.	ENSG00000151914	ENST00000370765	T	0.23147	1.92	4.64	-7.48	0.01360	.	.	.	.	.	T	0.04815	0.0130	.	.	.	0.09310	N	0.999995	B	0.12013	0.005	B	0.13407	0.009	T	0.37103	-0.9720	7	0.34782	T	0.22	.	9.1383	0.36888	0.0:0.4603:0.2132:0.3265	.	1145	Q03001-3	.	I	1145	ENSP00000359801:R1145I	ENSP00000359801:R1145I	R	-	2	0	DST	56593357	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.224000	0.09164	-1.417000	0.02017	-0.384000	0.06662	AGA		0.433	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		42	88	1	0	1.59932e-28	1	2.27211e-28	42	88					A	56485398	C	A	56485398	3	1	48	1	0	0	0	0	1	0	0	0	4785	913	32	2	16969	2	DST	6	56485398	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1100	56485398	114629669	1742	6210										
BEND6	221336	broad.mit.edu	37	chr6	56882055	56882055	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtaacaagagcaagcctcaGaagtttattaatgatttaat	7	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56882055G>T	ENST00000370746.3	+	5	839	c.570G>T	c.(568-570)caG>caT	p.Q190H	BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.Q92H	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	190	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						GCAAGCCTCAGAAGTTTATTA	0.388																																						ENST00000370746.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						c.(568-570)caG>caT		BEN domain containing 6							62	58	59					6																	56882055		1843	4099	5942	SO:0001583	missense	221336							g.chr6:56882055G>T	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"BEN domain containing"	20871	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 65"	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.570G>T	6.37:g.56882055G>T	ENSP00000359782:p.Gln190His		Somatic				BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.Q92H	p.Q190H	NM_152731.2	NP_689944.2	WXS	Illumina GAIIx	Phase_I	Q5SZJ8	BEND6_HUMAN			5	839	+			190			BEN.		Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	c.570G>T	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574967	0.65878	.	.	ENSG00000151917	ENST00000370746;ENST00000545789	.	.	.	4.87	4.87	0.63330	BEN domain (1);	0.000000	0.51477	D	0.000086	T	0.32041	0.0816	N	0.08118	0	0.33856	D	0.633185	D;D	0.67145	0.996;0.994	D;D	0.81914	0.995;0.986	T	0.25710	-1.0124	8	.	.	.	-13.9765	10.8059	0.46518	0.0893:0.0:0.9107:0.0	.	190;92	Q5SZJ8;Q5SZJ8-3	BEND6_HUMAN;.	H	190;92	.	.	Q	+	3	2	BEND6	56990014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.416000	0.44644	2.538000	0.85594	0.561000	0.74099	CAG		0.388	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		7	15	1	0	3.09899e-07	1	3.54467e-07	7	15					T	56882055	G	T	56882055	3	4	48	1	0	0	0	0	1	0	0	0	1402	933	33	2	584	2	BEND6	6	56882055	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	396657	56882055	114233012	1743	6211										
BEND6	221336	broad.mit.edu	37	chr6	56882100	56882100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtactttacacaaatgaataCatggccactcacagcctgac	6	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56882100C>T	ENST00000370746.3	+	5	884	c.615C>T	c.(613-615)taC>taT	p.Y205Y	BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000545789.1_Silent_p.Y107Y	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	205	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CAAATGAATACATGGCCACTC	0.393																																						ENST00000370746.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						c.(613-615)taC>taT		BEN domain containing 6							79	73	75					6																	56882100		1906	4129	6035	SO:0001819	synonymous_variant	221336							g.chr6:56882100C>T	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"BEN domain containing"	20871	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 65"	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.615C>T	6.37:g.56882100C>T			Somatic				BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000545789.1_Silent_p.Y107Y	p.Y205Y	NM_152731.2	NP_689944.2	WXS	Illumina GAIIx	Phase_I	Q5SZJ8	BEND6_HUMAN			5	884	+			205			BEN.		Q4G0W8|Q8N662|Q96NS6	Silent	SNP	ENST00000370746.3	37	c.615C>T	CCDS43476.1																																																																																				0.393	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		9	19	0	0	0	1	0	9	19					T	56882100	C	T	56882100	2	4	48	1	0	0	0	0	0	0	0	1	1402	489	17	3		3	BEND6	6	56882100	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	45	56882100	114232967	1744	6212										
ZNF451	26036	broad.mit.edu	37	chr6	57013143	57013143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ataaaggaaaactgtggtttCgctgcagtttatgttcggca	11	6	0	0	rs575508843	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:57013143C>T	ENST00000370706.4	+	10	2504	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C	RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.R754C|ZNF451_ENST00000491832.2_Missense_Mutation_p.R754C|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	754					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACTGTGGTTTCGCTGCAGTTT	0.413													C|||	3	0.000599042	0	0	5008	,	,		21276	0		0	False		,,,				2504	0.0031					ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2260-2262)Cgc>Tgc		zinc finger protein 451							67	62	64					6																	57013143		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57013143C>T	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2260C>T	6.37:g.57013143C>T	ENSP00000359740:p.Arg754Cys		Somatic				RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.R754C|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.R754C|RP11-203B9.4_ENST00000585792.1_RNA	p.R754C	NM_001031623.2	NP_001026794.1	WXS	Illumina GAIIx	Phase_I	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2504	+	Lung NSC(77;0.145)		754					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.2260C>T	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456912	0.43634	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.20332	2.08;2.1;2.08	4.99	4.99	0.66335	Zinc finger, C2H2-like (1);	0.316196	0.34932	N	0.003578	T	0.33177	0.0854	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.71414	0.938;0.973;0.939;0.954	T	0.05903	-1.0857	10	0.72032	D	0.01	-13.5695	13.5801	0.61898	0.1556:0.8444:0.0:0.0	.	754;754;754;754	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	C	754	ENSP00000359740:R754C;ENSP00000350083:R754C;ENSP00000421645:R754C	ENSP00000350083:R754C	R	+	1	0	ZNF451	57121102	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	2.327000	0.43858	2.453000	0.82957	0.557000	0.71058	CGC		0.413	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		11	21	0	0	0	1	0	11	21					T	57013143	C	T	57013143	3	4	48	1	0	0	0	0	1	0	0	0	17937	884	31	1	2298	1	ZNF451	6	57013143	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	131043	57013143	114101924	1745	6213										
ZNF451	26036	broad.mit.edu	37	chr6	57015659	57015659	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acatttatttggggctttcaAggtacggttaataagaaaaa	9	4	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:57015659A>C	ENST00000370706.4	+	11	2995	c.2751A>C	c.(2749-2751)caA>caC	p.Q917H	RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000589263.1_RNA|ZNF451_ENST00000491832.2_Splice_Site_p.Q917H|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Intron|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	917					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GGGGCTTTCAAGGTACGGTTA	0.353																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.e11+1		zinc finger protein 451							120	109	112					6																	57015659		1810	4070	5880	SO:0001630	splice_region_variant	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57015659A>C	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2752+1A>C	6.37:g.57015659A>C			Somatic				RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000357489.3_Intron|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Splice_Site_p.Q917_splice|RP11-203B9.4_ENST00000585792.1_RNA	p.Q917_splice	NM_001031623.2	NP_001026794.1	WXS	Illumina GAIIx	Phase_I	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		11	2995	+	Lung NSC(77;0.145)		917					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Splice_Site	SNP	ENST00000370706.4	37	c.2752_splice	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	A	14.21	2.467276	0.43839	.	.	ENSG00000112200	ENST00000370706;ENST00000491832	T;T	0.07114	3.22;3.22	5.77	4.59	0.56863	.	0.070287	0.64402	D	0.000011	T	0.03871	0.0109	M	0.62723	1.935	0.80722	D	1	B;B;B	0.29671	0.254;0.254;0.254	B;B;B	0.21917	0.037;0.037;0.037	T	0.17018	-1.0383	10	0.46703	T	0.11	-18.9102	8.4733	0.32999	0.7332:0.1366:0.0:0.1303	.	917;917;917	Q9Y4E5;E9PH99;Q4KMR5	ZN451_HUMAN;.;.	H	917	ENSP00000359740:Q917H;ENSP00000421645:Q917H	ENSP00000359740:Q917H	Q	+	3	2	ZNF451	57123618	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.314000	0.59166	1.096000	0.41439	0.528000	0.53228	CAA		0.353	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555	Missense_Mutation	5	83	0	0	0	1	0	5	83					C	57015659	A	C	57015659	5	2	48	1	0	0	0	0	0	0	1	0	17937	86	3	4	2793	4	ZNF451	6	57015659	Splice_Site	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2516	57015659	114099408	1746	6214										
PRIM2	5558	broad.mit.edu	37	chr6	57183336	57183336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgccttcagttttacttgcaGccaccttctgaaaacatatc	5	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:57183336G>A	ENST00000607273.1	+	2	180	c.93G>A	c.(91-93)caG>caA	p.Q31Q	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	31					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)		TTTACTTGCAGCCACCTTCTG	0.368																																						ENST00000607273.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59						c.(91-93)caG>caA		primase, DNA, polypeptide 2 (58kDa)							49	47	48					6																	57183336		1867	4103	5970	SO:0001819	synonymous_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57183336G>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.93G>A	6.37:g.57183336G>A			Somatic				PRIM2_ENST00000389488.2_3'UTR	p.Q31Q	NM_000947.2	NP_000938.2	WXS	Illumina GAIIx	Phase_I	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	2	180	+			31					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Silent	SNP	ENST00000607273.1	37	c.93G>A																																																																																					0.368	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947		4	8	0	0	0	1	0	4	8					A	57183336	G	A	57183336	2	1	48	1	0	0	0	0	0	0	0	1	12503	962	34	3		3	PRIM2	6	57183336	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	167677	57183336	113931731	1747	6215										
KHDRBS2	202559	broad.mit.edu	37	chr6	62995813	62995813	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagatggatccaggctatctTtctctgccatcagctcaggc	9	12	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:62995813T>C	ENST00000281156.4	-	1	319	c.41A>G	c.(40-42)aAa>aGa	p.K14R		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	14					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CAGGCTATCTTTCTCTGCCAT	0.587																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(40-42)aAa>aGa		KH domain containing, RNA binding, signal transduction associated 2							139	103	115					6																	62995813		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62995813T>C	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.41A>G	6.37:g.62995813T>C	ENSP00000281156:p.Lys14Arg		Somatic					p.K14R	NM_152688.2	NP_689901.2	WXS	Illumina GAIIx	Phase_I	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	1	319	-			14					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.41A>G	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.406644	0.42715	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.53206	0.63	5.41	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.16514	0.0397	L	0.45352	1.415	0.41982	D	0.990807	P	0.38788	0.647	B	0.28553	0.091	T	0.04191	-1.0970	10	0.29301	T	0.29	.	8.0612	0.30633	0.0:0.0918:0.0:0.9082	.	14	Q5VWX1	KHDR2_HUMAN	R	14	ENSP00000281156:K14R	ENSP00000281156:K14R	K	-	2	0	KHDRBS2	63053772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.568000	0.60857	0.901000	0.36495	0.454000	0.30748	AAA		0.587	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		12	28	0	0	0	1	0	12	28					C	62995813	T	C	62995813	3	2	48	1	0	0	0	0	1	0	0	0	8156	1841	64	4	1044	4	KHDRBS2	6	62995813	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	5812477	62995813	108119254	1748	6216										
LGSN	51557	broad.mit.edu	37	chr6	64004906	64004906	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgtccttcttaatgtgttCatgctgttggcttcagtctc	8	10	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:64004906C>A	ENST00000370657.4	-	2	108	c.75G>T	c.(73-75)atG>atT	p.M25I	LGSN_ENST00000370658.5_Missense_Mutation_p.M25I			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	25					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						TTAATGTGTTCATGCTGTTGG	0.343																																						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.(73-75)atG>atT		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						265	238	247					6																	64004906		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:64004906C>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.75G>T	6.37:g.64004906C>A	ENSP00000359691:p.Met25Ile		Somatic				LGSN_ENST00000370657.4_Missense_Mutation_p.M25I	p.M25I	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	WXS	Illumina GAIIx	Phase_I	Q5TDP6	LGSN_HUMAN			2	108	-			25					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.75G>T	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.026447	0.00414	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.23754	1.89;1.99	4.71	-0.622	0.11560	.	0.351400	0.38326	N	0.001729	T	0.07279	0.0184	L	0.59436	1.845	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.0	B;B;B	0.12156	0.007;0.001;0.0	T	0.23154	-1.0196	10	0.72032	D	0.01	-4.8379	0.637	0.00804	0.1704:0.3168:0.1662:0.3465	.	25;25;25	Q5TDP6-3;Q5TDP6-2;Q5TDP6	.;.;LGSN_HUMAN	I	25	ENSP00000359692:M25I;ENSP00000359691:M25I	ENSP00000359691:M25I	M	-	3	0	LGSN	64062865	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	-0.709000	0.05030	0.155000	0.19261	0.591000	0.81541	ATG		0.343	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		12	29	1	0	0.00010058	1	0.000108553	12	29					A	64004906	C	A	64004906	3	1	48	1	0	0	0	0	1	0	0	0	8768	826	29	2	1466	2	LGSN	6	64004906	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1009093	64004906	107110161	1749	6217										
EYS	346007	broad.mit.edu	37	chr6	66200576	66200576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agacatgtggttgacactggCcaattatttctgagcaattc	9	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:66200576C>T	ENST00000370621.3	-	5	1299	c.773G>A	c.(772-774)gGc>gAc	p.G258D	EYS_ENST00000370618.3_Missense_Mutation_p.G258D|EYS_ENST00000503581.1_Missense_Mutation_p.G258D|EYS_ENST00000342421.5_Missense_Mutation_p.G258D|EYS_ENST00000370616.2_Missense_Mutation_p.G258D|EYS_ENST00000393380.2_Missense_Mutation_p.G258D			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	258	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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						TTGACACTGGCCAATTATTTC	0.303																																						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.(772-774)gGc>gAc		eyes shut homolog (Drosophila)							68	64	66					6																	66200576		2203	4296	6499	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66200576C>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.773G>A	6.37:g.66200576C>T	ENSP00000359655:p.Gly258Asp		Somatic				EYS_ENST00000370616.2_Missense_Mutation_p.G258D|EYS_ENST00000370618.3_Missense_Mutation_p.G258D|EYS_ENST00000370621.3_Missense_Mutation_p.G258D|EYS_ENST00000342421.5_Missense_Mutation_p.G258D|EYS_ENST00000393380.2_Missense_Mutation_p.G258D	p.G258D	NM_001142800.1	NP_001136272.1	WXS	Illumina GAIIx	Phase_I	Q5T1H1	EYS_HUMAN			5	1310	-			258			EGF-like 3.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.773G>A		.	.	.	.	.	.	.	.	.	.	C	0.030	-1.338182	0.01287	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	4.4	2.02	0.26589	.	.	.	.	.	T	0.45736	0.1357	N	0.08118	0	0.22457	N	0.999082	B;B;B	0.23540	0.015;0.087;0.053	B;B;B	0.25759	0.027;0.063;0.028	T	0.50206	-0.8855	9	0.02654	T	1	.	7.0858	0.25257	0.0:0.7296:0.0:0.2704	.	258;258;258	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	D	258	ENSP00000424243:G258D;ENSP00000359655:G258D;ENSP00000359650:G258D;ENSP00000377042:G258D;ENSP00000341818:G258D;ENSP00000359652:G258D	ENSP00000341818:G258D	G	-	2	0	EYS	66257297	0.027000	0.19231	0.207000	0.23584	0.587000	0.36485	-0.299000	0.08254	0.160000	0.19432	0.557000	0.71058	GGC		0.303	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		5	22	0	0	0	1	0	5	22					T	66200576	C	T	66200576	3	4	48	1	0	0	0	0	1	0	0	0	5334	739	26	3	8779	3	EYS	6	66200576	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2195670	66200576	104914491	1750	6218										
LMBRD1	55788	broad.mit.edu	37	chr6	70386119	70386119	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctactccttcaataaccgaTttcttccctttacaacagga	3	13	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:70386119T>G	ENST00000370577.3	-	16	1783	c.1554A>C	c.(1552-1554)aaA>aaC	p.K518N	LMBRD1_ENST00000370570.1_Missense_Mutation_p.K445N	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	518					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						CAATAACCGATTTCTTCCCTT	0.323																																						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.(1552-1554)aaA>aaC		LMBR1 domain containing 1							126	127	127					6																	70386119		2203	4300	6503	SO:0001583	missense	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70386119T>G	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.1554A>C	6.37:g.70386119T>G	ENSP00000359609:p.Lys518Asn		Somatic				LMBRD1_ENST00000370570.1_Missense_Mutation_p.K445N	p.K518N	NM_018368.3	NP_060838.3	WXS	Illumina GAIIx	Phase_I	Q9NUN5	LMBD1_HUMAN			16	1783	-			518					A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	c.1554A>C	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	t	14.11	2.436749	0.43224	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.19105	2.17;2.17	5.37	-6.11	0.02131	.	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	M	0.69823	2.125	0.54753	D	0.99998	D	0.76494	0.999	D	0.72075	0.976	T	0.47911	-0.9080	10	0.72032	D	0.01	-12.6707	13.9962	0.64402	0.0:0.5464:0.0:0.4536	.	518	Q9NUN5	LMBD1_HUMAN	N	518;445	ENSP00000359609:K518N;ENSP00000359602:K445N	ENSP00000359602:K445N	K	-	3	2	LMBRD1	70442840	0.914000	0.31030	0.713000	0.30519	0.125000	0.20455	-0.052000	0.11865	-1.014000	0.03379	-1.176000	0.01726	AAA		0.323	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		8	25	0	0	0	1	0	8	25					G	70386119	T	G	70386119	3	3	48	1	0	0	0	0	1	0	0	0	8851	1490	52	4	72	4	LMBRD1	6	70386119	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	4185543	70386119	100728948	1751	6219										
COL19A1	1310	broad.mit.edu	37	chr6	70859890	70859890	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acctctgttttcagggagttCcagggagagatggaaagcca	13	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:70859890C>A	ENST00000322773.4	+	30	2092	c.1990C>A	c.(1990-1992)Cca>Aca	p.P664T	COL19A1_ENST00000393344.1_Missense_Mutation_p.P286T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	664	Collagen-like 6.|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						TCAGGGAGTTCCAGGGAGAGA	0.483																																						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.(1990-1992)Cca>Aca		collagen, type XIX, alpha 1							94	107	103					6																	70859890		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.chr6:70859890C>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.1990C>A	6.37:g.70859890C>A	ENSP00000316030:p.Pro664Thr		Somatic				COL19A1_ENST00000393344.1_Missense_Mutation_p.P286T	p.P664T	NM_001858.4	NP_001849.2	WXS	Illumina GAIIx	Phase_I	Q14993	COJA1_HUMAN			30	2092	+			664			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1990C>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824856	0.50739	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.96651	-4.08;-4.08	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.98178	0.9398	M	0.83852	2.665	0.51482	D	0.999928	D	0.89917	1.0	D	0.91635	0.999	D	0.98288	1.0512	10	0.62326	D	0.03	.	18.7402	0.91770	0.0:1.0:0.0:0.0	.	664	Q14993	COJA1_HUMAN	T	664;286	ENSP00000316030:P664T;ENSP00000377013:P286T	ENSP00000316030:P664T	P	+	1	0	COL19A1	70916611	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.298000	0.65710	2.868000	0.98415	0.555000	0.69702	CCA		0.483	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			42	83	1	0	8.20599e-20	1	1.12023e-19	42	83					A	70859890	C	A	70859890	3	1	48	1	0	0	0	0	1	0	0	0	3678	855	30	2	2104	2	COL19A1	6	70859890	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	473771	70859890	100255177	1752	6220										
COL9A1	1297	broad.mit.edu	37	chr6	71004214	71004214	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagagtgcttccagtcattcGaaacgtcgtcaagaaggagt	12	8	2	2	rs147237457		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:71004214G>A	ENST00000357250.6	-	5	510	c.352C>T	c.(352-354)Cga>Tga	p.R118*	COL9A1_ENST00000370496.3_Nonsense_Mutation_p.R118*	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	118	Laminin G-like.|Nonhelical region (NC4).				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						CCAGTCATTCGAAACGTCGTC	0.403																																						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.(352-354)Cga>Tga		collagen, type IX, alpha 1							123	128	126					6																	71004214		2203	4300	6503	SO:0001587	stop_gained	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:71004214G>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.352C>T	6.37:g.71004214G>A	ENSP00000349790:p.Arg118*		Somatic				COL9A1_ENST00000370496.3_Nonsense_Mutation_p.R118*	p.R118*	NM_001851.4	NP_001842.3	WXS	Illumina GAIIx	Phase_I	P20849	CO9A1_HUMAN			5	510	-			118			Nonhelical region (NC4).|TSP N-terminal.		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Nonsense_Mutation	SNP	ENST00000357250.6	37	c.352C>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587732	0.86851	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6327	0.95717	0.0:0.0:1.0:0.0	.	.	.	.	X	118	.	ENSP00000349790:R118X	R	-	1	2	COL9A1	71060935	1.000000	0.71417	0.992000	0.48379	0.133000	0.20885	7.293000	0.78740	2.701000	0.92244	0.650000	0.86243	CGA		0.403	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			34	53	0	0	0	1	0	34	53					A	71004214	G	A	71004214	4	1	48	1	0	0	0	0	0	1	0	0	3709	1066	37	1	2625	1	COL9A1	6	71004214	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	144324	71004214	100110853	1753	6221										
FAM135A	57579	broad.mit.edu	37	chr6	71233777	71233777	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attagatggagatctcaattCattacctataatctttgaag	6	6	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:71233777C>A	ENST00000418814.2	+	14	1825	c.1211C>A	c.(1210-1212)tCa>tAa	p.S404*	FAM135A_ENST00000361499.3_Nonsense_Mutation_p.S404*|FAM135A_ENST00000505868.1_Nonsense_Mutation_p.S404*|FAM135A_ENST00000457062.2_Nonsense_Mutation_p.S387*|FAM135A_ENST00000370479.3_Nonsense_Mutation_p.S387*|FAM135A_ENST00000505769.1_Nonsense_Mutation_p.S404*	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	404										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						GATCTCAATTCATTACCTATA	0.328																																						ENST00000418814.2																			0				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.(1210-1212)tCa>tAa		family with sequence similarity 135, member A							67	65	66					6																	71233777		2203	4300	6503	SO:0001587	stop_gained	57579							g.chr6:71233777C>A	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.1211C>A	6.37:g.71233777C>A	ENSP00000410768:p.Ser404*		Somatic				FAM135A_ENST00000370479.3_Nonsense_Mutation_p.S387*|FAM135A_ENST00000361499.3_Nonsense_Mutation_p.S404*|FAM135A_ENST00000505868.1_Nonsense_Mutation_p.S404*|FAM135A_ENST00000505769.1_Nonsense_Mutation_p.S404*|FAM135A_ENST00000457062.2_Nonsense_Mutation_p.S387*	p.S404*	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	WXS	Illumina GAIIx	Phase_I	Q9P2D6	F135A_HUMAN			14	1825	+			404					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Nonsense_Mutation	SNP	ENST00000418814.2	37	c.1211C>A	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	C	37	6.247750	0.97412	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000457062;ENST00000361499;ENST00000505868	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	.	.	.	X	404;387;404;404;387;404;404	.	ENSP00000354913:S404X	S	+	2	0	FAM135A	71290498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.814000	0.96858	0.591000	0.81541	TCA		0.328	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		9	12	1	0	0.000274275	1	0.000292037	9	12					A	71233777	C	A	71233777	4	1	48	1	0	0	0	0	0	1	0	0	5453	838	29	2	1335	2	FAM135A	6	71233777	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	229563	71233777	99881290	1754	6222										
FAM135A	57579	broad.mit.edu	37	chr6	71235797	71235797	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaaaaatagtgatgtattaAatctcacacagatgtattca	5	5	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:71235797A>C	ENST00000418814.2	+	15	3624	c.3010A>C	c.(3010-3012)Aat>Cat	p.N1004H	FAM135A_ENST00000361499.3_Missense_Mutation_p.N808H|FAM135A_ENST00000505868.1_Missense_Mutation_p.N1004H|FAM135A_ENST00000457062.2_Missense_Mutation_p.N791H|FAM135A_ENST00000370479.3_Missense_Mutation_p.N791H|FAM135A_ENST00000505769.1_Missense_Mutation_p.N584H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1004										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						TGATGTATTAAATCTCACACA	0.348																																						ENST00000418814.2																			0				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.(3010-3012)Aat>Cat		family with sequence similarity 135, member A							42	43	43					6																	71235797		2201	4299	6500	SO:0001583	missense	57579							g.chr6:71235797A>C	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.3010A>C	6.37:g.71235797A>C	ENSP00000410768:p.Asn1004His		Somatic				FAM135A_ENST00000370479.3_Missense_Mutation_p.N791H|FAM135A_ENST00000361499.3_Missense_Mutation_p.N808H|FAM135A_ENST00000505868.1_Missense_Mutation_p.N1004H|FAM135A_ENST00000505769.1_Missense_Mutation_p.N584H|FAM135A_ENST00000457062.2_Missense_Mutation_p.N791H	p.N1004H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	WXS	Illumina GAIIx	Phase_I	Q9P2D6	F135A_HUMAN			15	3624	+			1004					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.3010A>C	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	A	3.204	-0.163182	0.06502	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.24723	2.16;2.16;1.84;2.16;2.16;2.15	5.96	-3.04	0.05412	.	0.607210	0.19059	N	0.123834	T	0.07503	0.0189	L	0.50333	1.59	0.09310	N	1	B;B;B;B	0.09022	0.001;0.0;0.002;0.001	B;B;B;B	0.09377	0.004;0.002;0.003;0.004	T	0.35201	-0.9798	10	0.48119	T	0.1	.	7.8678	0.29547	0.1749:0.2968:0.5284:0.0	.	1004;1004;808;791	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	H	1004;791;584;791;808;1004	ENSP00000410768:N1004H;ENSP00000359510:N791H;ENSP00000423785:N584H;ENSP00000409201:N791H;ENSP00000354913:N808H;ENSP00000423307:N1004H	ENSP00000354913:N808H	N	+	1	0	FAM135A	71292518	0.984000	0.35163	0.000000	0.03702	0.028000	0.11728	2.794000	0.47853	-0.403000	0.07622	-0.250000	0.11733	AAT		0.348	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		18	16	0	0	0	1	0	18	16					C	71235797	A	C	71235797	3	2	48	1	0	0	0	0	1	0	0	0	5453	14	1	4	3138	4	FAM135A	6	71235797	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2020	71235797	99879270	1755	6223										
FAM135A	57579	broad.mit.edu	37	chr6	71245997	71245997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgttgggcaatttaataattCgttcagtgcttacaaggcca	9	8	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:71245997C>T	ENST00000418814.2	+	19	4614	c.4000C>T	c.(4000-4002)Cgt>Tgt	p.R1334C	FAM135A_ENST00000361499.3_Missense_Mutation_p.R1138C|FAM135A_ENST00000505868.1_Missense_Mutation_p.R1334C|FAM135A_ENST00000457062.2_Missense_Mutation_p.R1121C|FAM135A_ENST00000370479.3_Missense_Mutation_p.R1121C|FAM135A_ENST00000505769.1_Missense_Mutation_p.R914C	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1334										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						TTTAATAATTCGTTCAGTGCT	0.343																																						ENST00000418814.2																			0				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.(4000-4002)Cgt>Tgt		family with sequence similarity 135, member A							127	129	129					6																	71245997		2202	4299	6501	SO:0001583	missense	57579							g.chr6:71245997C>T	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.4000C>T	6.37:g.71245997C>T	ENSP00000410768:p.Arg1334Cys		Somatic				FAM135A_ENST00000370479.3_Missense_Mutation_p.R1121C|FAM135A_ENST00000361499.3_Missense_Mutation_p.R1138C|FAM135A_ENST00000505868.1_Missense_Mutation_p.R1334C|FAM135A_ENST00000505769.1_Missense_Mutation_p.R914C|FAM135A_ENST00000457062.2_Missense_Mutation_p.R1121C	p.R1334C	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	WXS	Illumina GAIIx	Phase_I	Q9P2D6	F135A_HUMAN			19	4614	+			1334					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.4000C>T	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062890	0.93898	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43	5.51	5.51	0.81932	Domain of unknown function DUF676, lipase-like (1);	0.054621	0.64402	D	0.000001	T	0.77605	0.4155	M	0.92784	3.345	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	0.99;0.991;1.0;1.0;0.999	T	0.83086	-0.0135	10	0.87932	D	0	.	19.4777	0.94995	0.0:1.0:0.0:0.0	.	914;1334;1334;1138;1121	D6RCC7;Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	C	1334;1121;914;1121;1138;1334	ENSP00000410768:R1334C;ENSP00000359510:R1121C;ENSP00000423785:R914C;ENSP00000409201:R1121C;ENSP00000354913:R1138C;ENSP00000423307:R1334C	ENSP00000354913:R1138C	R	+	1	0	FAM135A	71302718	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.740000	0.84986	2.575000	0.86900	0.585000	0.79938	CGT		0.343	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		18	30	0	0	0	1	0	18	30					T	71245997	C	T	71245997	3	4	48	1	0	0	0	0	1	0	0	0	5453	884	31	1	4144	1	FAM135A	6	71245997	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	10200	71245997	99869070	1756	6224										
RIMS1	22999	broad.mit.edu	37	chr6	72806813	72806813	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcatctctgctcctattgtcGcactaagttctgtgcgcgct	8	13	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:72806813G>A	ENST00000521978.1	+	3	407	c.407G>A	c.(406-408)cGc>cAc	p.R136H	RIMS1_ENST00000491071.2_Missense_Mutation_p.R136H|RIMS1_ENST00000264839.7_Missense_Mutation_p.R136H|RIMS1_ENST00000348717.5_Missense_Mutation_p.R136H|RIMS1_ENST00000518273.1_Missense_Mutation_p.R136H|RIMS1_ENST00000517960.1_Missense_Mutation_p.R136H|RIMS1_ENST00000520567.1_Missense_Mutation_p.R136H|RIMS1_ENST00000522291.1_Missense_Mutation_p.R136H	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	136	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.R136H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCCTATTGTCGCACTAAGTTC	0.507																																						ENST00000264839.7																			1	Substitution - Missense(1)	p.R136H(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(406-408)cGc>cAc		regulating synaptic membrane exocytosis 1							85	88	87					6																	72806813		2088	4236	6324	SO:0001583	missense	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72806813G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.407G>A	6.37:g.72806813G>A	ENSP00000428417:p.Arg136His		Somatic				RIMS1_ENST00000522291.1_Missense_Mutation_p.R136H|RIMS1_ENST00000521978.1_Missense_Mutation_p.R136H|RIMS1_ENST00000518273.1_Missense_Mutation_p.R136H|RIMS1_ENST00000491071.2_Missense_Mutation_p.R136H|RIMS1_ENST00000348717.5_Missense_Mutation_p.R136H|RIMS1_ENST00000517960.1_Missense_Mutation_p.R136H|RIMS1_ENST00000520567.1_Missense_Mutation_p.R136H	p.R136H			WXS	Illumina GAIIx	Phase_I	Q86UR5	RIMS1_HUMAN			3	407	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	136			RabBD.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.407G>A	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990869	0.93106	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000011	T	0.63236	0.2494	L	0.32530	0.975	0.80722	D	1	P	0.46064	0.872	B	0.38683	0.279	T	0.70920	-0.4741	10	0.66056	D	0.02	-8.618	20.0804	0.97772	0.0:0.0:1.0:0.0	.	136	Q86UR5	RIMS1_HUMAN	H	136	ENSP00000430101:R136H;ENSP00000275037:R136H;ENSP00000264839:R136H;ENSP00000429959:R136H;ENSP00000430408:R136H;ENSP00000430502:R136H;ENSP00000430932:R136H;ENSP00000428417:R136H	ENSP00000264839:R136H	R	+	2	0	RIMS1	72863534	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.297000	0.78799	2.738000	0.93877	0.655000	0.94253	CGC		0.507	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			14	25	0	0	0	1	0	14	25					A	72806813	G	A	72806813	3	1	48	1	0	0	0	0	1	0	0	0	13382	1087	38	1	417	1	RIMS1	6	72806813	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1560816	72806813	98308254	1757	6225										
RIMS1	22999	broad.mit.edu	37	chr6	72945357	72945357	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaccatctaaagagggggacCgattaattggacgtgttatt	11	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:72945357C>T	ENST00000521978.1	+	8	1783	c.1783C>T	c.(1783-1785)Cga>Tga	p.R595*	RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R595*|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.R595*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R595*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.R54*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000523963.1_Nonsense_Mutation_p.R69*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000425662.2_5'UTR|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000401910.3_Nonsense_Mutation_p.R69*	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	595					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGAGGGGGACCGATTAATTGG	0.368																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(1783-1785)Cga>Tga		regulating synaptic membrane exocytosis 1							71	69	70					6																	72945357		1884	4113	5997	SO:0001587	stop_gained	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72945357C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.1783C>T	6.37:g.72945357C>T	ENSP00000428417:p.Arg595*		Somatic				RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000521978.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.R54*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000425662.2_5'UTR|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R595*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R595*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000401910.3_Nonsense_Mutation_p.R69*|RIMS1_ENST00000523963.1_Nonsense_Mutation_p.R69*	p.R595*			WXS	Illumina GAIIx	Phase_I	Q86UR5	RIMS1_HUMAN			8	1783	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	595					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	37	c.1783C>T	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.005047|10.005047	0.99315|0.99315	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000517827	.|.	.|.	.|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.56097	.|D	.|0.000027	T|.	0.25606|.	0.0623|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.14144|.	-1.0483|.	4|.	.|0.02654	.|T	.|1	-13.1319|-13.1319	14.4639|14.4639	0.67470|0.67470	0.0:0.9302:0.0:0.0698|0.0:0.9302:0.0:0.0698	.|.	.|.	.|.	.|.	L|X	168|595;595;595;595;595;595;595;595;595;595;595;595;69;69;54	.|.	.|ENSP00000264839:R595X	P|R	+|+	2|1	0|2	RIMS1|RIMS1	73002078|73002078	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.068000|4.068000	0.57534|0.57534	2.809000|2.809000	0.96659|0.96659	0.467000|0.467000	0.42956|0.42956	CCG|CGA		0.368	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			3	18	0	0	0	1	0	3	18					T	72945357	C	T	72945357	4	4	48	1	0	0	0	0	0	1	0	0	13382	644	23	1	1976	1	RIMS1	6	72945357	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	138544	72945357	98169710	1758	6226										
DDX43	55510	broad.mit.edu	37	chr6	74124304	74124304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actaattgcaactgatctagCctctagaggacttgatgtcc	8	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:74124304C>T	ENST00000370336.4	+	14	1798	c.1640C>T	c.(1639-1641)gCc>gTc	p.A547V	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	547	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						ACTGATCTAGCCTCTAGAGGA	0.383																																						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.(1639-1641)gCc>gTc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							115	105	109					6																	74124304		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74124304C>T		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"DEAD-boxes"	18677	protein-coding gene	gene with protein product	"cancer/testis antigen 13"	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1640C>T	6.37:g.74124304C>T	ENSP00000359361:p.Ala547Val		Somatic				MB21D1_ENST00000370318.1_Intron	p.A547V	NM_018665.2	NP_061135.2	WXS	Illumina GAIIx	Phase_I	Q9NXZ2	DDX43_HUMAN			14	1798	+			547			Helicase C-terminal.		B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.1640C>T	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179360	0.57800	.	.	ENSG00000080007	ENST00000370336	T	0.76578	-1.03	4.3	4.3	0.51218	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	M	0.81614	2.55	0.80722	D	1	D	0.64830	0.994	D	0.67900	0.954	D	0.86891	0.2048	10	0.54805	T	0.06	-0.0568	16.8753	0.86051	0.0:1.0:0.0:0.0	.	547	Q9NXZ2	DDX43_HUMAN	V	547	ENSP00000359361:A547V	ENSP00000359361:A547V	A	+	2	0	DDX43	74181025	1.000000	0.71417	0.911000	0.35937	0.013000	0.08279	5.367000	0.66127	2.358000	0.79984	0.650000	0.86243	GCC		0.383	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		31	45	0	0	0	1	0	31	45					T	74124304	C	T	74124304	3	4	48	1	0	0	0	0	1	0	0	0	4365	739	26	3	1694	3	DDX43	6	74124304	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1178947	74124304	96990763	1759	6227										
SLC17A5	26503	broad.mit.edu	37	chr6	74325059	74325059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tataaggctaaaaattctgcGaacacataaagttgaaaaat	6	5	1	1	rs150686745		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:74325059G>A	ENST00000355773.5	-	8	1358	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	364					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)	p.R364C(3)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAAATTCTGCGAACACATAAA	0.343																																						ENST00000355773.5																			3	Substitution - Missense(3)	p.R364C(3)	skin(2)|large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1090-1092)Cgc>Tgc		solute carrier family 17 (acidic sugar transporter), member 5							95	90	92					6																	74325059		2203	4300	6503	SO:0001583	missense	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74325059G>A	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.1090C>T	6.37:g.74325059G>A	ENSP00000348019:p.Arg364Cys		Somatic				SLC17A5_ENST00000393019.3_3'UTR	p.R364C	NM_012434.4	NP_036566.1	WXS	Illumina GAIIx	Phase_I	Q9NRA2	S17A5_HUMAN			8	1358	-			364					Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	c.1090C>T	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698436	0.68386	.	.	ENSG00000119899	ENST00000355773	T	0.66638	-0.22	4.83	4.83	0.62350	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.85583	0.5730	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90051	0.4149	10	0.87932	D	0	.	12.9623	0.58466	0.0:0.0:0.8381:0.1619	.	426;364	E1P537;Q9NRA2	.;S17A5_HUMAN	C	364	ENSP00000348019:R364C	ENSP00000348019:R364C	R	-	1	0	SLC17A5	74381780	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.386000	0.59620	2.221000	0.72209	0.561000	0.74099	CGC		0.343	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			21	31	0	0	0	1	0	21	31					A	74325059	G	A	74325059	3	1	48	1	0	0	0	0	1	0	0	0	14435	1058	37	1	413	1	SLC17A5	6	74325059	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	200755	74325059	96790008	1760	6228										
CD109	135228	broad.mit.edu	37	chr6	74472181	74472181	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atccttttggggaaagaagaAaaatattacaaaaacattta	6	4	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:74472181A>G	ENST00000287097.5	+	8	945	c.833A>G	c.(832-834)aAa>aGa	p.K278R	CD109_ENST00000437994.2_Missense_Mutation_p.K278R|CD109_ENST00000422508.2_Missense_Mutation_p.K201R			Q6YHK3	CD109_HUMAN	CD109 molecule	278					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGAAAGAAGAAAAATATTACA	0.289																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(832-834)aAa>aGa		CD109 molecule							46	50	49					6																	74472181		2203	4291	6494	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74472181A>G	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.833A>G	6.37:g.74472181A>G	ENSP00000287097:p.Lys278Arg		Somatic				CD109_ENST00000422508.2_Missense_Mutation_p.K201R|CD109_ENST00000287097.5_Missense_Mutation_p.K278R	p.K278R	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	WXS	Illumina GAIIx	Phase_I	Q6YHK3	CD109_HUMAN			8	1264	+			278					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.833A>G	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	A	4.948	0.176049	0.09443	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.24151	1.87;2.08;1.87	5.08	3.91	0.45181	.	0.459428	0.24856	N	0.035042	T	0.02688	0.0081	N	0.10972	0.075	0.31550	N	0.658884	B;B;B;B	0.11235	0.001;0.002;0.001;0.004	B;B;B;B	0.10450	0.001;0.002;0.005;0.003	T	0.42832	-0.9428	10	0.05620	T	0.96	.	4.4468	0.11602	0.6598:0.169:0.1712:0.0	.	201;278;278;278	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	R	278;201;278	ENSP00000388062:K278R;ENSP00000404475:K201R;ENSP00000287097:K278R	ENSP00000287097:K278R	K	+	2	0	CD109	74528902	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	2.017000	0.40981	1.054000	0.40438	0.533000	0.62120	AAA		0.289	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		11	17	0	0	0	1	0	11	17					G	74472181	A	G	74472181	3	3	48	1	0	0	0	0	1	0	0	0	2965	14	1	4	863	4	CD109	6	74472181	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	147122	74472181	96642886	1761	6229										
FILIP1	27145	broad.mit.edu	37	chr6	76023417	76023417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acttttagcttcttccaaccGaaatctgtgtctcagttcag	6	11	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:76023417G>A	ENST00000237172.7	-	5	2461	c.2131C>T	c.(2131-2133)Cgg>Tgg	p.R711W	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.R711W|FILIP1_ENST00000370020.1_Missense_Mutation_p.R612W	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	711								p.R711W(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						TCTTCCAACCGAAATCTGTGT	0.413																																						ENST00000393004.2																			1	Substitution - Missense(1)	p.R711W(1)	lung(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.(2131-2133)Cgg>Tgg		filamin A interacting protein 1							169	175	173					6																	76023417		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023417G>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.2131C>T	6.37:g.76023417G>A	ENSP00000237172:p.Arg711Trp		Somatic				FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.R612W|FILIP1_ENST00000237172.7_Missense_Mutation_p.R711W	p.R711W			WXS	Illumina GAIIx	Phase_I	Q7Z7B0	FLIP1_HUMAN			5	2352	-			711					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2131C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380895	0.42207	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.22945	1.93;1.94;1.94	5.45	4.58	0.56647	.	0.185091	0.48767	D	0.000173	T	0.23572	0.0570	N	0.22421	0.69	0.26962	N	0.965797	D;D;D	0.89917	0.999;0.999;1.0	P;D;D	0.70227	0.874;0.929;0.968	T	0.16424	-1.0403	10	0.87932	D	0	-16.1962	15.602	0.76631	0.0:0.0:0.8612:0.1388	.	711;711;711	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	W	711;711;612	ENSP00000376728:R711W;ENSP00000237172:R711W;ENSP00000359037:R612W	ENSP00000237172:R711W	R	-	1	2	FILIP1	76080137	1.000000	0.71417	0.719000	0.30619	0.988000	0.76386	3.391000	0.52530	1.290000	0.44636	0.563000	0.77884	CGG		0.413	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		28	123	0	0	0	1	0	28	123					A	76023417	G	A	76023417	3	1	48	1	0	0	0	0	1	0	0	0	5902	1057	37	1	1518	1	FILIP1	6	76023417	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1551236	76023417	95091650	1762	6230										
IMPG1	3617	broad.mit.edu	37	chr6	76728558	76728558	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctgctcctccaacacagcGaattctgtttctctttcctg	5	15	3	0	rs201624566	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:76728558G>A	ENST00000369950.3	-	7	873	c.684C>T	c.(682-684)ttC>ttT	p.F228F	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)				CCAACACAGCGAATTCTGTTT	0.413													G|||	2	0.000399361	8e-04	0	5008	,	,		14554	0.001		0	False		,,,				2504	0				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.(682-684)ttC>ttT		interphotoreceptor matrix proteoglycan 1		G		0,4406		0,0,2203	66	64	65		684	-0.2	0	6	dbSNP_134	65	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous	IMPG1	NM_001563.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		228/798	76728558	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76728558G>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.684C>T	6.37:g.76728558G>A			Somatic				IMPG1_ENST00000369963.3_3'UTR	p.F228F	NM_001563.2	NP_001554.2	WXS	Illumina GAIIx	Phase_I	Q17R60	IMPG1_HUMAN			7	873	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	228						Silent	SNP	ENST00000369950.3	37	c.684C>T	CCDS4985.1																																																																																				0.413	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		11	27	0	0	0	1	0	11	27					A	76728558	G	A	76728558	2	1	48	1	0	0	0	0	0	0	0	1	7737	1049	37	1		1	IMPG1	6	76728558	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	705141	76728558	94386509	1763	6231										
HTR1B	3351	broad.mit.edu	37	chr6	78172516	78172516	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtagaggatgtggtcggtgTtcaccacgcattccgacacc	12	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:78172516T>C	ENST00000369947.2	-	1	974	c.605A>G	c.(604-606)aAc>aGc	p.N202S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	202					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GTGGTCGGTGTTCACCACGCA	0.587																																						ENST00000369947.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25						c.(604-606)aAc>aGc		5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						72	75	74					6																	78172516		2203	4300	6503	SO:0001583	missense	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172516T>C	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5287	protein-coding gene	gene with protein product		182131	"5-hydroxytryptamine (serotonin) receptor 1B"			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.605A>G	6.37:g.78172516T>C	ENSP00000358963:p.Asn202Ser		Somatic					p.N202S	NM_000863.1	NP_000854.1	WXS	Illumina GAIIx	Phase_I	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	974	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	202					Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	c.605A>G	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336232	0.24253	.	.	ENSG00000135312	ENST00000369947	T	0.36520	1.25	5.06	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.32941	0.0846	L	0.34521	1.04	0.58432	D	0.999991	D	0.76494	0.999	D	0.87578	0.998	T	0.07578	-1.0765	9	.	.	.	.	11.3336	0.49490	0.0:0.0:0.1526:0.8474	.	202	P28222	5HT1B_HUMAN	S	202	ENSP00000358963:N202S	.	N	-	2	0	HTR1B	78229235	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.746000	0.85057	0.924000	0.37069	0.454000	0.30748	AAC		0.587	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		7	34	0	0	0	1	0	7	34					C	78172516	T	C	78172516	3	2	48	1	0	0	0	0	1	0	0	0	7446	1725	60	4	571	4	HTR1B	6	78172516	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1443958	78172516	92942551	1764	6232										
HTR1B	3351	broad.mit.edu	37	chr6	78172749	78172749	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgatgtccgacgacagccaGaagtcacagaccacctggcc	11	14	1	3	rs369054681		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:78172749G>T	ENST00000369947.2	-	1	741	c.372C>A	c.(370-372)ttC>ttA	p.F124L		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	124			F -> C (in dbSNP:rs130060). {ECO:0000269|PubMed:7802650}.		adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ACGACAGCCAGAAGTCACAGA	0.612																																						ENST00000369947.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25						c.(370-372)ttC>ttA		5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						97	76	83					6																	78172749		2203	4300	6503	SO:0001583	missense	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172749G>T	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5287	protein-coding gene	gene with protein product		182131	"5-hydroxytryptamine (serotonin) receptor 1B"			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.372C>A	6.37:g.78172749G>T	ENSP00000358963:p.Phe124Leu		Somatic					p.F124L	NM_000863.1	NP_000854.1	WXS	Illumina GAIIx	Phase_I	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	741	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	124		F -> C (in dbSNP:rs130060).			Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	c.372C>A	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	G	8.680	0.904858	0.17760	.	.	ENSG00000135312	ENST00000369947	T	0.34667	1.35	5.27	-1.34	0.09143	GPCR, rhodopsin-like superfamily (1);	0.238547	0.41001	N	0.000971	T	0.06917	0.0176	N	0.11756	0.17	0.41665	D	0.989201	B	0.02656	0.0	B	0.04013	0.001	T	0.28650	-1.0037	9	.	.	.	.	12.8192	0.57683	0.0:0.5374:0.2428:0.2198	.	124	P28222	5HT1B_HUMAN	L	124	ENSP00000358963:F124L	.	F	-	3	2	HTR1B	78229468	1.000000	0.71417	0.979000	0.43373	0.994000	0.84299	0.800000	0.27042	-0.478000	0.06823	0.561000	0.74099	TTC		0.612	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		33	76	1	0	4.11147e-13	1	5.25189e-13	33	76					T	78172749	G	T	78172749	3	4	48	1	0	0	0	0	1	0	0	0	7446	933	33	2	804	2	HTR1B	6	78172749	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	233	78172749	92942318	1765	6233										
PHIP	55023	broad.mit.edu	37	chr6	79650668	79650668	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggttacttctccttaacacTttgacacttgcagggactag	8	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:79650668T>G	ENST00000275034.4	-	40	5375	c.5208A>C	c.(5206-5208)aaA>aaC	p.K1736N	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1736					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)		TCCTTAACACTTTGACACTTG	0.393																																						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.(5206-5208)aaA>aaC		pleckstrin homology domain interacting protein							276	271	273					6																	79650668		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.chr6:79650668T>G	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.5208A>C	6.37:g.79650668T>G	ENSP00000275034:p.Lys1736Asn		Somatic				PHIP_ENST00000479165.1_5'UTR	p.K1736N	NM_017934.5	NP_060404.3	WXS	Illumina GAIIx	Phase_I	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	40	5375	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1736					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.5208A>C	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	3.487	-0.104608	0.06967	.	.	ENSG00000146247	ENST00000275034	T	0.44881	0.91	6.07	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.17916	0.0430	L	0.29908	0.895	0.50813	D	0.999897	P;P	0.46706	0.883;0.883	B;B	0.44224	0.444;0.444	T	0.01998	-1.1232	9	.	.	.	-26.1581	9.1621	0.37030	0.0:0.1893:0.0:0.8107	.	1736;1736	A7J992;Q8WWQ0	.;PHIP_HUMAN	N	1736	ENSP00000275034:K1736N	.	K	-	3	2	PHIP	79707387	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	1.337000	0.33862	1.116000	0.41820	-0.280000	0.10049	AAA		0.393	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			26	67	0	0	0	1	0	26	67					G	79650668	T	G	79650668	3	3	48	1	0	0	0	0	1	0	0	0	11851	1606	56	4	261	4	PHIP	6	79650668	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1477919	79650668	91464399	1766	6234										
PHIP	55023	broad.mit.edu	37	chr6	79657392	79657392	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aattactgaaaataagtctgAcatctttacataactccatt	3	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:79657392A>G	ENST00000275034.4	-	36	4321	c.4154T>C	c.(4153-4155)gTc>gCc	p.V1385A	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1385	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)		AATAAGTCTGACATCTTTACA	0.343																																						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.(4153-4155)gTc>gCc		pleckstrin homology domain interacting protein							147	138	141					6																	79657392		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.chr6:79657392A>G	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.4154T>C	6.37:g.79657392A>G	ENSP00000275034:p.Val1385Ala		Somatic				PHIP_ENST00000479165.1_5'UTR	p.V1385A	NM_017934.5	NP_060404.3	WXS	Illumina GAIIx	Phase_I	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	36	4321	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1385			Bromo 2.		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.4154T>C	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.633147	0.87660	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.22945	1.93	5.33	5.33	0.75918	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.64402	D	0.000002	T	0.41026	0.1141	M	0.69523	2.12	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.27773	-1.0064	9	.	.	.	-5.5078	14.7772	0.69738	1.0:0.0:0.0:0.0	.	1385;1385	A7J992;Q8WWQ0	.;PHIP_HUMAN	A	1385;111	ENSP00000275034:V1385A	.	V	-	2	0	PHIP	79714111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.890000	0.92477	2.148000	0.66965	0.459000	0.35465	GTC		0.343	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			10	34	0	0	0	1	0	10	34					G	79657392	A	G	79657392	3	3	48	1	0	0	0	0	1	0	0	0	11851	275	10	4	1331	4	PHIP	6	79657392	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	6724	79657392	91457675	1767	6235										
TTK	7272	broad.mit.edu	37	chr6	80717701	80717701	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccccagataaatatggccaAaatgagagttttgctagaat	8	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:80717701A>C	ENST00000369798.2	+	3	426	c.315A>C	c.(313-315)caA>caC	p.Q105H	TTK_ENST00000230510.3_Missense_Mutation_p.Q105H|TTK_ENST00000509894.1_Missense_Mutation_p.Q105H	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	105					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AATATGGCCAAAATGAGAGTT	0.333																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(313-315)caA>caC		TTK protein kinase							57	59	59					6																	80717701		2203	4300	6503	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80717701A>C		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.315A>C	6.37:g.80717701A>C	ENSP00000358813:p.Gln105His		Somatic				TTK_ENST00000230510.3_Missense_Mutation_p.Q105H|TTK_ENST00000369798.2_Missense_Mutation_p.Q105H	p.Q105H			WXS	Illumina GAIIx	Phase_I	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	3	1144	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	105					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.315A>C	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.951049	0.34471	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798;ENST00000502580;ENST00000511260;ENST00000504040	D;D;D;D;D;T	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;1.4	5.66	2.07	0.26955	.	0.150410	0.64402	D	0.000010	T	0.66557	0.2801	L	0.43152	1.355	0.29146	N	0.878672	B;B	0.31241	0.315;0.174	B;B	0.23018	0.043;0.031	T	0.55964	-0.8057	10	0.36615	T	0.2	.	4.8013	0.13298	0.6121:0.1508:0.2372:0.0	.	105;105	P33981;A8K8U5	TTK_HUMAN;.	H	105	ENSP00000422936:Q105H;ENSP00000230510:Q105H;ENSP00000358813:Q105H;ENSP00000424851:Q105H;ENSP00000421636:Q105H;ENSP00000427483:Q105H	ENSP00000230510:Q105H	Q	+	3	2	TTK	80774420	0.115000	0.22152	1.000000	0.80357	0.994000	0.84299	-0.449000	0.06812	0.529000	0.28599	-0.256000	0.11100	CAA		0.333	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			21	34	0	0	0	1	0	21	34					C	80717701	A	C	80717701	3	2	48	1	0	0	0	0	1	0	0	0	16735	11	1	4	321	4	TTK	6	80717701	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1060309	80717701	90397366	1768	6236										
TTK	7272	broad.mit.edu	37	chr6	80737720	80737720	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacttgccactccacttcaaAatttacaggttcgataagct	5	11	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:80737720A>C	ENST00000369798.2	+	13	1624	c.1513A>C	c.(1513-1515)Aat>Cat	p.N505H	TTK_ENST00000230510.3_Missense_Mutation_p.N504H|TTK_ENST00000509894.1_Missense_Mutation_p.N504H	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	505					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TCCACTTCAAAATTTACAGGT	0.373																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(1510-1512)Aat>Cat		TTK protein kinase							89	84	86					6																	80737720		2203	4300	6503	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80737720A>C		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1513A>C	6.37:g.80737720A>C	ENSP00000358813:p.Asn505His		Somatic				TTK_ENST00000230510.3_Missense_Mutation_p.N504H|TTK_ENST00000369798.2_Missense_Mutation_p.N505H	p.N504H			WXS	Illumina GAIIx	Phase_I	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	13	2339	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	505					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.1510A>C	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	3.437	-0.114973	0.06881	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.68765	-0.33;-0.33;-0.35	5.99	2.23	0.28157	.	1.131700	0.06226	N	0.687816	T	0.27697	0.0681	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.21861	-1.0233	10	0.40728	T	0.16	.	6.9415	0.24496	0.6412:0.2856:0.0732:0.0	.	505;504	P33981;A8K8U5	TTK_HUMAN;.	H	504;504;505	ENSP00000422936:N504H;ENSP00000230510:N504H;ENSP00000358813:N505H	ENSP00000230510:N504H	N	+	1	0	TTK	80794439	0.066000	0.20996	0.003000	0.11579	0.005000	0.04900	2.808000	0.47963	0.146000	0.19002	-0.316000	0.08728	AAT		0.373	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			12	35	0	0	0	1	0	12	35					C	80737720	A	C	80737720	3	2	48	1	0	0	0	0	1	0	0	0	16735	14	1	4	1559	4	TTK	6	80737720	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	20019	80737720	90377347	1769	6237										
BCKDHB	594	broad.mit.edu	37	chr6	80912855	80912855	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggtagcttccatggcaaaaGaaaagcttggagtgtcttgt	12	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:80912855G>T	ENST00000320393.6	+	8	924	c.877G>T	c.(877-879)Gaa>Taa	p.E293*	BCKDHB_ENST00000545529.1_3'UTR|BCKDHB_ENST00000356489.5_Nonsense_Mutation_p.E293*	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	293					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)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CATGGCAAAAGAAAAGCTTGG	0.373																																						ENST00000320393.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15						c.(877-879)Gaa>Taa		branched chain keto acid dehydrogenase E1, beta polypeptide							152	148	149					6																	80912855		2203	4300	6503	SO:0001587	stop_gained	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80912855G>T	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"maple syrup urine disease"	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.877G>T	6.37:g.80912855G>T	ENSP00000318351:p.Glu293*		Somatic				BCKDHB_ENST00000545529.1_3'UTR|BCKDHB_ENST00000356489.5_Nonsense_Mutation_p.E293*	p.E293*	NM_183050.2	NP_898871.1	WXS	Illumina GAIIx	Phase_I	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	8	924	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	293					Q5T2J3|Q9BQL0	Nonsense_Mutation	SNP	ENST00000320393.6	37	c.877G>T	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	G	40	8.119169	0.98662	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-24.7976	17.8152	0.88630	0.0:0.0:1.0:0.0	.	.	.	.	X	293;293;223	.	ENSP00000318351:E293X	E	+	1	0	BCKDHB	80969574	1.000000	0.71417	0.982000	0.44146	0.979000	0.70002	8.998000	0.93550	2.804000	0.96469	0.655000	0.94253	GAA		0.373	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056		31	49	1	0	1.26612e-14	1	1.65413e-14	31	49					T	80912855	G	T	80912855	4	4	48	1	0	0	0	0	0	1	0	0	1360	943	33	2	907	2	BCKDHB	6	80912855	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	175135	80912855	90202212	1770	6238										
DOPEY1	23033	broad.mit.edu	37	chr6	83848209	83848209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaagatttaataggcaatcGaaacatgcaaatgatgagca	8	6	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:83848209G>A	ENST00000349129.2	+	21	4708	c.4448G>A	c.(4447-4449)cGa>cAa	p.R1483Q	DOPEY1_ENST00000369739.3_Missense_Mutation_p.R1474Q|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R1464Q|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1483					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)		ATAGGCAATCGAAACATGCAA	0.368																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(4447-4449)cGa>cAa		dopey family member 1							86	92	90					6																	83848209		2203	4299	6502	SO:0001583	missense	23033				protein transport			g.chr6:83848209G>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.4448G>A	6.37:g.83848209G>A	ENSP00000195654:p.Arg1483Gln		Somatic				DOPEY1_ENST00000369739.3_Missense_Mutation_p.R1474Q|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R1464Q|DOPEY1_ENST00000484282.1_3'UTR	p.R1483Q	NM_015018.3	NP_055833.2	WXS	Illumina GAIIx	Phase_I	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	4708	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1483					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.4448G>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.585218	0.46110	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.39056	1.1;1.1	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	L	0.42245	1.32	0.80722	D	1	D;D;D	0.64830	0.994;0.957;0.957	P;B;B	0.48368	0.575;0.357;0.357	T	0.16778	-1.0391	10	0.56958	D	0.05	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	1374;1474;1483	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	Q	1483;1464;1464	ENSP00000195654:R1483Q;ENSP00000237163:R1464Q	ENSP00000237163:R1464Q	R	+	2	0	DOPEY1	83904928	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	7.611000	0.82962	2.813000	0.96785	0.655000	0.94253	CGA		0.368	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		19	35	0	0	0	1	0	19	35					A	83848209	G	A	83848209	3	1	48	1	0	0	0	0	1	0	0	0	4709	1058	37	1	4522	1	DOPEY1	6	83848209	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2935354	83848209	87266858	1771	6239										
SNAP91	9892	broad.mit.edu	37	chr6	84302200	84302200	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaggtctatgacacctgaaGaatccacctttgctggcgag	10	10	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:84302200G>T	ENST00000439399.2	-	21	2220	c.1904C>A	c.(1903-1905)tCt>tAt	p.S635Y	SNAP91_ENST00000520302.1_Intron|SNAP91_ENST00000521743.1_Missense_Mutation_p.S635Y|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.S635Y|SNAP91_ENST00000428679.2_Missense_Mutation_p.S635Y|SNAP91_ENST00000369694.2_Missense_Mutation_p.S635Y|SNAP91_ENST00000195649.6_Missense_Mutation_p.S635Y|SNAP91_ENST00000437520.1_Intron	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	635					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)		GACACCTGAAGAATCCACCTT	0.423																																						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.(1903-1905)tCt>tAt		synaptosomal-associated protein, 91kDa							46	48	47					6																	84302200		1966	4154	6120	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84302200G>T	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.1904C>A	6.37:g.84302200G>T	ENSP00000400459:p.Ser635Tyr		Somatic				SNAP91_ENST00000521743.1_Missense_Mutation_p.S635Y|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000520302.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.S635Y|SNAP91_ENST00000195649.6_Missense_Mutation_p.S635Y|SNAP91_ENST00000439399.2_Missense_Mutation_p.S635Y|SNAP91_ENST00000369694.2_Missense_Mutation_p.S635Y	p.S635Y			WXS	Illumina GAIIx	Phase_I	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	21	2497	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	635					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.1904C>A	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046580	0.55110	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000521743;ENST00000521931	T;T;T;T;T;T;T	0.33865	2.36;2.38;2.38;2.36;2.4;2.38;1.39	5.66	4.8	0.61643	.	0.158083	0.45606	D	0.000351	T	0.46034	0.1372	L	0.57536	1.79	0.80722	D	1	P;D	0.69078	0.561;0.997	B;D	0.69824	0.126;0.966	T	0.52540	-0.8562	10	0.87932	D	0	-11.0686	14.6125	0.68526	0.0701:0.0:0.9299:0.0	.	516;633	B7Z2N2;E1P549	.;.	Y	635;635;635;635;635;635;448	ENSP00000429776:S635Y;ENSP00000358708:S635Y;ENSP00000400459:S635Y;ENSP00000195649:S635Y;ENSP00000412492:S635Y;ENSP00000428215:S635Y;ENSP00000430071:S448Y	ENSP00000195649:S635Y	S	-	2	0	SNAP91	84358919	1.000000	0.71417	0.986000	0.45419	0.971000	0.66376	7.126000	0.77201	1.406000	0.46857	0.650000	0.86243	TCT		0.423	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			6	13	1	0	2.7689e-08	1	3.25926e-08	6	13					T	84302200	G	T	84302200	3	4	48	1	0	0	0	0	1	0	0	0	14848	942	33	2	855	2	SNAP91	6	84302200	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	453991	84302200	86812867	1772	6240										
CYB5R4	51167	broad.mit.edu	37	chr6	84649908	84649908	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atactgaattatgctttgacTgatatacccagtctcaggta	7	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:84649908T>G	ENST00000369681.5	+	13	1382	c.1242T>G	c.(1240-1242)acT>acG	p.T414T	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	414					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)		ATGCTTTGACTGATATACCCA	0.333																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	ENST00000369681.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1240-1242)acT>acG		cytochrome b5 reductase 4							75	76	76					6																	84649908		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:84649908T>G	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.1242T>G	6.37:g.84649908T>G			Somatic				CYB5R4_ENST00000479164.1_3'UTR	p.T414T	NM_016230.3	NP_057314.2	WXS	Illumina GAIIx	Phase_I	Q7L1T6	NB5R4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0871)	13	1382	+		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)	414					B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Silent	SNP	ENST00000369681.5	37	c.1242T>G	CCDS5000.2																																																																																				0.333	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230		10	38	0	0	0	1	0	10	38					G	84649908	T	G	84649908	2	3	48	1	0	0	0	0	0	0	0	1	4131	1567	55	4		4	CYB5R4	6	84649908	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	347708	84649908	86465159	1773	6241										
KIAA1009	22832	broad.mit.edu	37	chr6	84859327	84859327	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttcagctactttggaagaaGaattttctactgcattttgg	9	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:84859327G>T	ENST00000403245.3	-	24	3839	c.3725C>A	c.(3724-3726)tCt>tAt	p.S1242Y	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.S1166Y	NM_014895.2	NP_055710.2												p.S1242Y(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTTGGAAGAAGAATTTTCTAC	0.363																																						ENST00000403245.3																			1	Substitution - Missense(1)	p.S1242Y(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(3724-3726)tCt>tAt		KIAA1009							149	147	148					6																	84859327		2203	4300	6503	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84859327G>T																												ENST00000403245.3:c.3725C>A	6.37:g.84859327G>T	ENSP00000385215:p.Ser1242Tyr		Somatic				KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.S1166Y	p.S1242Y	NM_014895.2	NP_055710.2	WXS	Illumina GAIIx	Phase_I	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	24	3839	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	1242						Missense_Mutation	SNP	ENST00000403245.3	37	c.3725C>A	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271141	0.80469	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.22945	1.93;1.93	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	M	0.76002	2.32	0.51767	D	0.999933	D	0.63880	0.993	D	0.63192	0.912	T	0.45804	-0.9236	10	0.72032	D	0.01	-4.8016	19.008	0.92859	0.0:0.0:1.0:0.0	.	1242	Q5TB80	QN1_HUMAN	Y	1166;1242	ENSP00000257766:S1166Y;ENSP00000385215:S1242Y	ENSP00000257766:S1166Y	S	-	2	0	KIAA1009	84916046	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.216000	0.89764	2.470000	0.83445	0.460000	0.39030	TCT		0.363	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			17	29	1	0	0.000422831	1	0.000449533	17	29					T	84859327	G	T	84859327	3	4	48	1	0	0	0	0	1	0	0	0	8212	942	33	2	502	2	KIAA1009	6	84859327	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	209419	84859327	86255740	1774	6242										
ZNF292	23036	broad.mit.edu	37	chr6	87967813	87967813	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagtcaagaaggtagtgaaaTtattaaacaggctttggaaa	10	4	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:87967813T>G	ENST00000369577.3	+	8	4509	c.4466T>G	c.(4465-4467)aTt>aGt	p.I1489S	ZNF292_ENST00000339907.4_Missense_Mutation_p.I1484S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1489						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)		GGTAGTGAAATTATTAAACAG	0.413																																						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.(4465-4467)aTt>aGt		zinc finger protein 292							42	41	41					6																	87967813		1882	4093	5975	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87967813T>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.4466T>G	6.37:g.87967813T>G	ENSP00000358590:p.Ile1489Ser		Somatic				ZNF292_ENST00000339907.4_Missense_Mutation_p.I1484S	p.I1489S	NM_015021.1	NP_055836.1	WXS	Illumina GAIIx	Phase_I	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	4509	+		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)	1489					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.4466T>G	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.034392	0.54896	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.12039	2.72;2.73	5.97	5.97	0.96955	.	0.073849	0.52532	D	0.000070	T	0.15522	0.0374	N	0.24115	0.695	0.45634	D	0.998568	D	0.76494	0.999	D	0.78314	0.991	T	0.06391	-1.0829	10	0.46703	T	0.11	.	15.0319	0.71713	0.0:0.0:0.0:1.0	.	1489	O60281	ZN292_HUMAN	S	1489;1484	ENSP00000358590:I1489S;ENSP00000342847:I1484S	ENSP00000342847:I1484S	I	+	2	0	ZNF292	88024532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.665000	0.54532	2.288000	0.76882	0.533000	0.62120	ATT		0.413	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		10	22	0	0	0	1	0	10	22					G	87967813	T	G	87967813	3	3	48	1	0	0	0	0	1	0	0	0	17841	1493	52	4	4496	4	ZNF292	6	87967813	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	3108486	87967813	83147254	1775	6243										
ZNF292	23036	broad.mit.edu	37	chr6	87969514	87969514	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctgacaaaacagaaagttCtttacaagtgattacagtta	6	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:87969514C>T	ENST00000369577.3	+	8	6210	c.6167C>T	c.(6166-6168)tCt>tTt	p.S2056F	ZNF292_ENST00000339907.4_Missense_Mutation_p.S2051F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2056						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)		ACAGAAAGTTCTTTACAAGTG	0.353																																						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.(6166-6168)tCt>tTt		zinc finger protein 292							36	33	34					6																	87969514		1815	4068	5883	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969514C>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.6167C>T	6.37:g.87969514C>T	ENSP00000358590:p.Ser2056Phe		Somatic				ZNF292_ENST00000339907.4_Missense_Mutation_p.S2051F	p.S2056F	NM_015021.1	NP_055836.1	WXS	Illumina GAIIx	Phase_I	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6210	+		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)	2056					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.6167C>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273592	0.59649	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.09163	3.01;3.02	5.64	5.64	0.86602	.	0.305164	0.36519	N	0.002556	T	0.11067	0.0270	L	0.54323	1.7	0.42134	D	0.991486	P	0.49961	0.93	P	0.44732	0.459	T	0.01670	-1.1299	10	0.62326	D	0.03	.	19.726	0.96164	0.0:1.0:0.0:0.0	.	2056	O60281	ZN292_HUMAN	F	2056;2051	ENSP00000358590:S2056F;ENSP00000342847:S2051F	ENSP00000342847:S2051F	S	+	2	0	ZNF292	88026233	0.185000	0.23213	0.963000	0.40424	0.735000	0.41995	1.302000	0.33459	2.678000	0.91216	0.655000	0.94253	TCT		0.353	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		9	16	0	0	0	1	0	9	16					T	87969514	C	T	87969514	3	4	48	1	0	0	0	0	1	0	0	0	17841	913	32	3	6197	3	ZNF292	6	87969514	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1701	87969514	83145553	1776	6244										
CASP8AP2	9994	broad.mit.edu	37	chr6	90572627	90572627	+	RNA	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caagaatgaaataacattttCtcataattcaagtaaatacc	3	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:90572627C>A	ENST00000551025.1	+	0	2636									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ATAACATTTTCTCATAATTCA	0.348																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							86	83	84					6																	90572627		1846	4101	5947			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90572627C>A	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572627C>A			Somatic								WXS	Illumina GAIIx	Phase_I	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	2636	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.348	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		8	61	1	0	0.00307968	1	0.00320271	8	61					A	90572627	C	A	90572627	1	1	48	0	1	0	0	0	0	0	0	0	2680	913	32	2		2	CASP8AP2	6	90572627	RNA	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2603113	90572627	80542440	1777	6245										
CASP8AP2	9994	broad.mit.edu	37	chr6	90578240	90578240	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattgatttgacacaagatgCttcaagtgaggctaaaagtg	10	5	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:90578240C>A	ENST00000551025.1	+	0	6668									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ACACAAGATGCTTCAAGTGAG	0.393																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							96	88	90					6																	90578240		1912	4135	6047			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90578240C>A	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90578240C>A			Somatic								WXS	Illumina GAIIx	Phase_I	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	6668	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.393	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		11	21	1	0	1.58986e-06	1	1.78832e-06	11	21					A	90578240	C	A	90578240	1	1	48	0	1	0	0	0	0	0	0	0	2680	797	28	5		5	CASP8AP2	6	90578240	RNA	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5613	90578240	80536827	1778	6246										
GJA10	84694	broad.mit.edu	37	chr6	90605648	90605648	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtaagacaggcagccctaccGatcatggaactatcacaaga	9	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:90605648G>A	ENST00000369352.1	+	1	1461	c.1461G>A	c.(1459-1461)ccG>ccA	p.P487P	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	0					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-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;0.0915)		CAGCCCTACCGATCATGGAAC	0.478																																						ENST00000369352.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37						c.(1459-1461)ccG>ccA		gap junction protein, alpha 10, 62kDa							132	126	128					6																	90605648		2203	4300	6503	SO:0001819	synonymous_variant	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90605648G>A	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"Ion channels / Gap junction proteins (connexins)"	16995	protein-coding gene	gene with protein product	"connexin 62"	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.1461G>A	6.37:g.90605648G>A			Somatic					p.P487P	NM_032602.1	NP_115991.1	WXS	Illumina GAIIx	Phase_I	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	1461	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	487					B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000369352.1	37	c.1461G>A	CCDS5025.1																																																																																				0.478	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		39	76	0	0	0	1	0	39	76					A	90605648	G	A	90605648	2	1	48	1	0	0	0	0	0	0	0	1	6409	1045	37	1		1	GJA10	6	90605648	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	27408	90605648	80509419	1779	6247										
FUT9	10690	broad.mit.edu	37	chr6	96651946	96651946	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaaagtatctgaaggaagtCgacaaaaacaataagttata	8	5	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:96651946C>T	ENST00000302103.5	+	3	1241	c.915C>T	c.(913-915)gtC>gtT	p.V305V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	305					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)			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)		TGAAGGAAGTCGACAAAAACA	0.373																																					Melanoma(98;1369 1476 6592 22940 26587)	ENST00000302103.5																			0				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.(913-915)gtC>gtT		fucosyltransferase 9 (alpha (1,3) fucosyltransferase)							81	81	81					6																	96651946		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.chr6:96651946C>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.915C>T	6.37:g.96651946C>T			Somatic					p.V305V	NM_006581.3	NP_006572.2	WXS	Illumina GAIIx	Phase_I	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	1241	+		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)	305					Q5T0W4	Silent	SNP	ENST00000302103.5	37	c.915C>T	CCDS5033.1																																																																																				0.373	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		5	36	0	0	0	1	0	5	36					T	96651946	C	T	96651946	2	4	48	1	0	0	0	0	0	0	0	1	6119	871	31	1		1	FUT9	6	96651946	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	6046298	96651946	74463121	1780	6248										
GPR63	81491	broad.mit.edu	37	chr6	97246800	97246800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatcctcaaggcattgtgccGaagggtgttgagtatgccca	13	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:97246800G>A	ENST00000229955.3	-	2	1153	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	GPR63_ENST00000417980.1_Missense_Mutation_p.R270W	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GCATTGTGCCGAAGGGTGTTG	0.468																																						ENST00000229955.3																			0				kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(808-810)Cgg>Tgg		G protein-coupled receptor 63							97	98	98					6																	97246800		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246800G>A	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"GPCR / Class A : Orphans"	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.808C>T	6.37:g.97246800G>A	ENSP00000229955:p.Arg270Trp		Somatic				GPR63_ENST00000417980.1_Missense_Mutation_p.R270W	p.R270W	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	WXS	Illumina GAIIx	Phase_I	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	2	1153	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	270					Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.808C>T	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230956	0.79688	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.41400	1.0;1.0;1.0	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64505	0.2604	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69935	-0.5010	10	0.87932	D	0	-8.3633	19.0987	0.93265	0.0:0.0:1.0:0.0	.	270	Q9BZJ6	GPR63_HUMAN	W	294;270;270;270	ENSP00000393170:R270W;ENSP00000229955:R270W;ENSP00000358273:R270W	ENSP00000229955:R270W	R	-	1	2	GPR63	97353521	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.558000	0.82253	2.595000	0.87683	0.650000	0.86243	CGG		0.468	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			38	83	0	0	0	1	0	38	83					A	97246800	G	A	97246800	3	1	48	1	0	0	0	0	1	0	0	0	6712	1057	37	1	455	1	GPR63	6	97246800	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	594854	97246800	73868267	1781	6249										
FBXL4	26235	broad.mit.edu	37	chr6	99323520	99323520	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctattccattctcagtaatAttcttacatctccacagatc	3	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:99323520A>C	ENST00000369244.2	-	9	1901	c.1473T>G	c.(1471-1473)aaT>aaG	p.N491K	FBXL4_ENST00000229971.1_Missense_Mutation_p.N491K	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	491					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				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)		TCTCAGTAATATTCTTACATC	0.468																																						ENST00000369244.2																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18						c.(1471-1473)aaT>aaG		F-box and leucine-rich repeat protein 4							82	82	82					6																	99323520		2203	4300	6503	SO:0001583	missense	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99323520A>C	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.1473T>G	6.37:g.99323520A>C	ENSP00000358247:p.Asn491Lys		Somatic				FBXL4_ENST00000229971.1_Missense_Mutation_p.N491K	p.N491K			WXS	Illumina GAIIx	Phase_I	Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	9	1901	-		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)	491					B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	c.1473T>G	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047535	0.55110	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.03065	4.06;4.06	5.82	-3.36	0.04913	.	0.000000	0.85682	D	0.000000	T	0.04137	0.0115	L	0.45352	1.415	0.58432	D	0.999998	D;B	0.89917	1.0;0.294	D;B	0.91635	0.999;0.034	T	0.18366	-1.0339	10	0.20046	T	0.44	.	14.3284	0.66534	0.3121:0.0:0.6879:0.0	.	491;491	B2R7Q5;Q9UKA2	.;FBXL4_HUMAN	K	491	ENSP00000358247:N491K;ENSP00000229971:N491K	ENSP00000229971:N491K	N	-	3	2	FBXL4	99430241	1.000000	0.71417	0.850000	0.33497	0.994000	0.84299	1.099000	0.31013	-0.337000	0.08426	0.482000	0.46254	AAT		0.468	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			11	62	0	0	0	1	0	11	62					C	99323520	A	C	99323520	3	2	48	1	0	0	0	0	1	0	0	0	5729	446	16	4	400	4	FBXL4	6	99323520	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2076720	99323520	71791547	1782	6250										
SFRS18	25957	broad.mit.edu	37	chr6	99848627	99848627	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttcttactatcctgtctaGaatcatgtcttatgatttta	4	7	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:99848627G>A	ENST00000369239.5	-	12	2411	c.2207C>T	c.(2206-2208)tCt>tTt	p.S736F	PNISR_ENST00000438806.1_Missense_Mutation_p.S736F	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	736	Ser-rich.					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						ATCCTGTCTAGAATCATGTCT	0.353																																						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.(2206-2208)tCt>tTt		PNN-interacting serine/arginine-rich protein							147	150	149					6																	99848627		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99848627G>A	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.2207C>T	6.37:g.99848627G>A	ENSP00000358242:p.Ser736Phe		Somatic				PNISR_ENST00000438806.1_Missense_Mutation_p.S736F	p.S736F	NM_032870.2	NP_116259.2	WXS	Illumina GAIIx	Phase_I	Q8TF01	PNISR_HUMAN			12	2411	-			736			Ser-rich.		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.2207C>T	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284200	0.59867	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	.	.	.	5.5	5.5	0.81552	.	0.201646	0.52532	D	0.000079	T	0.55909	0.1950	L	0.29908	0.895	0.80722	D	1	D	0.58268	0.982	P	0.57548	0.823	T	0.60702	-0.7211	9	0.66056	D	0.02	.	19.392	0.94587	0.0:0.0:1.0:0.0	.	736	Q8TF01	PNISR_HUMAN	F	736	.	ENSP00000358242:S736F	S	-	2	0	PNISR	99955348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.777000	0.62361	2.585000	0.87301	0.549000	0.68633	TCT		0.353	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		29	35	0	0	0	1	0	29	35					A	99848627	G	A	99848627	3	1	48	1	0	0	0	0	1	0	0	0	14189	942	33	3	214	3	SFRS18	6	99848627	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	525107	99848627	71266440	1783	6251										
SFRS18	25957	broad.mit.edu	37	chr6	99849197	99849197	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taggagaagaagaccgagaaGaagtacgactactacctgag	12	7	0	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:99849197G>T	ENST00000369239.5	-	12	1841	c.1637C>A	c.(1636-1638)tCt>tAt	p.S546Y	PNISR_ENST00000438806.1_Missense_Mutation_p.S546Y	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	546	Ser-rich.					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						AGACCGAGAAGAAGTACGACT	0.423																																						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.(1636-1638)tCt>tAt		PNN-interacting serine/arginine-rich protein							120	110	113					6																	99849197		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99849197G>T	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1637C>A	6.37:g.99849197G>T	ENSP00000358242:p.Ser546Tyr		Somatic				PNISR_ENST00000438806.1_Missense_Mutation_p.S546Y	p.S546Y	NM_032870.2	NP_116259.2	WXS	Illumina GAIIx	Phase_I	Q8TF01	PNISR_HUMAN			12	1841	-			546			Ser-rich.		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.1637C>A	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.443288	0.63067	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	L	0.34521	1.04	0.80722	D	1	D	0.58268	0.982	P	0.57548	0.823	T	0.54827	-0.8235	9	0.44086	T	0.13	.	19.4149	0.94690	0.0:0.0:1.0:0.0	.	546	Q8TF01	PNISR_HUMAN	Y	546	.	ENSP00000358242:S546Y	S	-	2	0	PNISR	99955918	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.612000	0.90909	2.669000	0.90835	0.579000	0.79373	TCT		0.423	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		14	41	1	0	0.000151284	1	0.00016287	14	41					T	99849197	G	T	99849197	3	4	48	1	0	0	0	0	1	0	0	0	14189	942	33	2	784	2	SFRS18	6	99849197	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	570	99849197	71265870	1784	6252										
PRDM13	59336	broad.mit.edu	37	chr6	100057121	100057121	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagctgacagtgtggtattCtaactccttggctcagtggt	13	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:100057121C>A	ENST00000369215.4	+	3	640	c.335C>A	c.(334-336)tCt>tAt	p.S112Y		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	112	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GTGTGGTATTCTAACTCCTTG	0.537																																						ENST00000369214.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(364-366)tCt>tAt		PR domain containing 13							75	81	79					6																	100057121		2131	4249	6380	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100057121C>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.335C>A	6.37:g.100057121C>A	ENSP00000358217:p.Ser112Tyr		Somatic				PRDM13_ENST00000369215.4_Missense_Mutation_p.S112Y	p.S122Y	NM_021620.3	NP_067633.2	WXS	Illumina GAIIx	Phase_I	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	3	626	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	112					Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.365C>A	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093520	0.94149	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	D;D	0.85861	-2.04;-2.04	5.65	5.65	0.86999	SET domain (2);	0.000000	0.38436	N	0.001695	D	0.90689	0.7079	M	0.64404	1.975	0.54753	D	0.999982	D	0.89917	1.0	D	0.85130	0.997	D	0.90987	0.4832	10	0.87932	D	0	-25.232	19.3827	0.94543	0.0:1.0:0.0:0.0	.	112	Q9H4Q3	PRD13_HUMAN	Y	112;122	ENSP00000358217:S112Y;ENSP00000358216:S122Y	ENSP00000358216:S122Y	S	+	2	0	PRDM13	100163842	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.410000	0.80065	2.689000	0.91719	0.558000	0.71614	TCT		0.537	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			11	22	1	0	2.27111e-07	1	2.60515e-07	11	22					A	100057121	C	A	100057121	3	1	48	1	0	0	0	0	1	0	0	0	12466	913	32	2	345	2	PRDM13	6	100057121	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	207924	100057121	71057946	1785	6253										
MCHR2	84539	broad.mit.edu	37	chr6	100403957	100403957	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcagtttgataagcaaactCtttattccaggatttgttta	8	6	1	1	rs201596484		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:100403957C>A	ENST00000281806.2	-	2	381	c.67G>T	c.(67-69)Gag>Tag	p.E23*	MCHR2_ENST00000369212.2_Nonsense_Mutation_p.E23*	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TAAGCAAACTCTTTATTCCAG	0.423																																						ENST00000281806.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(67-69)Gag>Tag		melanin-concentrating hormone receptor 2							144	141	142					6																	100403957		2203	4300	6503	SO:0001587	stop_gained	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100403957C>A	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.67G>T	6.37:g.100403957C>A	ENSP00000281806:p.Glu23*		Somatic				MCHR2_ENST00000369212.1_Nonsense_Mutation_p.E23*|MCHR2_ENST00000445970.1_Nonsense_Mutation_p.E23*	p.E23*	NM_001040179.1	NP_001035269.1	WXS	Illumina GAIIx	Phase_I	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	2	381	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	23					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Nonsense_Mutation	SNP	ENST00000281806.2	37	c.67G>T	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.888990	0.52014	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	.	.	.	4.86	3.99	0.46301	.	0.270973	0.25526	N	0.030063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	7.5041	0.27534	0.0:0.8027:0.0:0.1973	.	.	.	.	X	23	.	ENSP00000281806:E23X	E	-	1	0	MCHR2	100510678	0.857000	0.29778	0.851000	0.33527	0.054000	0.15201	0.803000	0.27083	1.156000	0.42514	0.561000	0.74099	GAG		0.423	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		31	69	1	0	3.11337e-16	1	4.1367e-16	31	69					A	100403957	C	A	100403957	4	1	48	1	0	0	0	0	0	1	0	0	9392	922	32	2	975	2	MCHR2	6	100403957	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	346836	100403957	70711110	1786	6254										
SIM1	6492	broad.mit.edu	37	chr6	100838345	100838345	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgagccattacagcccaaGgaatagtttctaatggtttc	9	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:100838345G>T	ENST00000369208.3	-	12	2975	c.2193C>A	c.(2191-2193)tcC>tcA	p.S731S	SIM1_ENST00000262901.4_Silent_p.S731S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	731	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)		TACAGCCCAAGGAATAGTTTC	0.448																																						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.(2191-2193)tcC>tcA		single-minded family bHLH transcription factor 1							171	158	162					6																	100838345		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.chr6:100838345G>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.2193C>A	6.37:g.100838345G>T			Somatic				SIM1_ENST00000262901.4_Silent_p.S731S	p.S731S			WXS	Illumina GAIIx	Phase_I	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	12	2975	-		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)	731			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.2193C>A	CCDS5045.1																																																																																				0.448	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		27	84	1	0	1.66031e-10	1	2.0393e-10	27	84					T	100838345	G	T	100838345	2	4	48	1	0	0	0	0	0	0	0	1	14338	987	35	5		5	SIM1	6	100838345	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	434388	100838345	70276722	1787	6255										
ASCC3	10973	broad.mit.edu	37	chr6	101248328	101248328	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttcagactgaatagtgacTtgacaaccataattgggttt	9	6	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:101248328T>G	ENST00000369162.2	-	6	1319	c.975A>C	c.(973-975)caA>caC	p.Q325H	ASCC3_ENST00000522650.1_Missense_Mutation_p.Q325H	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	325					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)		GAATAGTGACTTGACAACCAT	0.303																																						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.(973-975)caA>caC		activating signal cointegrator 1 complex subunit 3							93	86	88					6																	101248328		2200	4298	6498	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101248328T>G	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.975A>C	6.37:g.101248328T>G	ENSP00000358159:p.Gln325His		Somatic				ASCC3_ENST00000522650.1_Missense_Mutation_p.Q325H	p.Q325H	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)	6	1319	-		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)	325					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.975A>C	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.815098	0.70912	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.60672	0.17;0.17	5.51	5.51	0.81932	.	0.135137	0.51477	D	0.000084	T	0.68970	0.3059	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.71184	0.972;0.907	T	0.71474	-0.4582	10	0.46703	T	0.11	.	15.6243	0.76840	0.0:0.0:0.0:1.0	.	325;325	E7EW23;Q8N3C0	.;HELC1_HUMAN	H	325	ENSP00000358159:Q325H;ENSP00000430769:Q325H	ENSP00000358159:Q325H	Q	-	3	2	ASCC3	101355049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.957000	0.56730	2.091000	0.63221	0.459000	0.35465	CAA		0.303	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		11	11	0	0	0	1	0	11	11					G	101248328	T	G	101248328	3	3	48	1	0	0	0	0	1	0	0	0	1033	1606	56	4	5781	4	ASCC3	6	101248328	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	409983	101248328	69866739	1788	6256										
PREP	5550	broad.mit.edu	37	chr6	105825262	105825262	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagtaaaagcagtctcaccGttttcctttcttgaagtggc	8	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:105825262G>A	ENST00000369110.3	-	3	445	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	85					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)	CAGTCTCACCGTTTTCCTTTC	0.328																																						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.e3+1		prolyl endopeptidase	Oxytocin(DB00107)						147	145	146					6																	105825262		2203	4300	6503	SO:0001630	splice_region_variant	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105825262G>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.254+1C>T	6.37:g.105825262G>A			Somatic					p.R85_splice	NM_002726.4	NP_002717.3	WXS	Illumina GAIIx	Phase_I	P48147	PPCE_HUMAN			3	445	-		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)	85					Q8N6D4	Splice_Site	SNP	ENST00000369110.3	37	c.254_splice	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555971	0.65425	.	.	ENSG00000085377	ENST00000369110	T	0.45668	0.89	5.76	2.65	0.31530	Peptidase S9A, oligopeptidase, N-terminal (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.087086	0.85682	D	0.000000	T	0.44891	0.1315	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.41197	-0.9522	10	0.45353	T	0.12	-6.4239	7.8862	0.29651	0.0852:0.0:0.3576:0.5572	.	85	P48147	PPCE_HUMAN	W	85	ENSP00000358106:R85W	ENSP00000358106:R85W	R	-	1	2	PREP	105931955	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	2.954000	0.49113	0.725000	0.32318	0.650000	0.86243	CGG		0.328	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1		Missense_Mutation	27	66	0	0	0	1	0	27	66					A	105825262	G	A	105825262	5	1	48	1	0	0	0	0	0	0	1	0	12486	1159	40	1	1931	1	PREP	6	105825262	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4576934	105825262	65289805	1789	6257										
PRDM1	639	broad.mit.edu	37	chr6	106552805	106552805	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaagaaatcctaaaattggActccaacccctccaaaggaa	6	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:106552805A>G	ENST00000369096.4	+	5	1004	c.770A>G	c.(769-771)gAc>gGc	p.D257G	PRDM1_ENST00000369091.2_Missense_Mutation_p.D221G|PRDM1_ENST00000369089.3_Missense_Mutation_p.D123G	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	257					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CTAAAATTGGACTCCAACCCC	0.468			"D, N, Mis, F, S"		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"D, N, Mis, F, S"	"PR domain containing 1, with ZNF domain"			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(769-771)gAc>gGc		PR domain containing 1, with ZNF domain							227	243	238					6																	106552805		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106552805A>G		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.770A>G	6.37:g.106552805A>G	ENSP00000358092:p.Asp257Gly		Somatic				PRDM1_ENST00000369089.3_Missense_Mutation_p.D123G|PRDM1_ENST00000369091.2_Missense_Mutation_p.D221G	p.D257G	NM_001198.3	NP_001189.2	WXS	Illumina GAIIx	Phase_I	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1004	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	257					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.770A>G	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	A	11.99	1.803190	0.31869	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000450060;ENST00000369089	T;T;T;T	0.58506	3.13;3.09;0.33;3.11	5.59	5.59	0.84812	.	0.189976	0.47852	D	0.000208	T	0.36771	0.0979	L	0.57536	1.79	0.22446	N	0.999099	P;P	0.40144	0.704;0.704	B;B	0.36134	0.218;0.154	T	0.38993	-0.9635	10	0.54805	T	0.06	-45.8864	11.7265	0.51712	0.8527:0.1473:0.0:0.0	.	123;257	Q86WM7;O75626	.;PRDM1_HUMAN	G	221;257;221;136;123	ENSP00000358087:D221G;ENSP00000358092:D257G;ENSP00000399772:D136G;ENSP00000358085:D123G	ENSP00000358085:D123G	D	+	2	0	PRDM1	106659498	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	4.555000	0.60767	2.134000	0.65973	0.533000	0.62120	GAC		0.468	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			10	390	0	0	0	1	0	10	390					G	106552805	A	G	106552805	3	3	48	1	0	0	0	0	1	0	0	0	12462	275	10	4	801	4	PRDM1	6	106552805	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	727543	106552805	64562262	1790	6258										
AIM1	202	broad.mit.edu	37	chr6	106968877	106968877	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctgtgacatcagtcaacaCtatgaccacggctttcagta	7	11	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:106968877C>A	ENST00000369066.3	+	2	3057	c.2570C>A	c.(2569-2571)aCt>aAt	p.T857N		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TCAGTCAACACTATGACCACG	0.443																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(2569-2571)aCt>aAt		absent in melanoma 1							74	76	75					6																	106968877		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106968877C>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.2570C>A	6.37:g.106968877C>A	ENSP00000358062:p.Thr857Asn		Somatic					p.T857N	NM_001624.2	NP_001615.1	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	3057	+	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)	857					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.2570C>A	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248277	0.22880	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.74209	-0.82	5.99	4.17	0.49024	.	1.054960	0.07294	N	0.873022	T	0.50531	0.1621	L	0.52573	1.65	0.25118	N	0.990664	B	0.26876	0.162	B	0.17979	0.02	T	0.45116	-0.9283	10	0.28530	T	0.3	.	11.6951	0.51538	0.1329:0.5225:0.3446:0.0	.	857	Q9Y4K1	AIM1_HUMAN	N	1265;857	ENSP00000358062:T857N	ENSP00000285105:T1265N	T	+	2	0	AIM1	107075570	0.124000	0.22315	0.021000	0.16686	0.982000	0.71751	1.112000	0.31172	0.818000	0.34468	0.655000	0.94253	ACT		0.443	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			31	56	1	0	5.45727e-16	1	7.22369e-16	31	56					A	106968877	C	A	106968877	3	1	48	1	0	0	0	0	1	0	0	0	430	565	20	5	2576	5	AIM1	6	106968877	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	416072	106968877	64146190	1791	6259										
RTN4IP1	84816	broad.mit.edu	37	chr6	107019892	107019892	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaacaacattaattacagtCtttcctcgtgcgtgtcctct	5	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:107019892C>A	ENST00000369063.3	-	9	1635	c.1170G>T	c.(1168-1170)aaG>aaT	p.K390N	RTN4IP1_ENST00000539449.1_3'UTR|RTN4IP1_ENST00000498091.1_5'UTR	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	390						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TAATTACAGTCTTTCCTCGTG	0.388																																						ENST00000369063.3																			0				breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13						c.(1168-1170)aaG>aaT		reticulon 4 interacting protein 1							124	119	121					6																	107019892		2203	4300	6503	SO:0001583	missense	84816					mitochondrion	oxidoreductase activity|zinc ion binding	g.chr6:107019892C>A	AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.1170G>T	6.37:g.107019892C>A	ENSP00000358059:p.Lys390Asn		Somatic				RTN4IP1_ENST00000498091.1_5'UTR|RTN4IP1_ENST00000539449.1_3'UTR	p.K390N	NM_032730.4	NP_116119.2	WXS	Illumina GAIIx	Phase_I	Q8WWV3	RT4I1_HUMAN	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)	9	1635	-	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	390					Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	ENST00000369063.3	37	c.1170G>T	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112726	0.77210	.	.	ENSG00000130347	ENST00000369063	T	0.59906	0.23	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79172	-0.1913	10	0.87932	D	0	-23.1064	9.3737	0.38270	0.0:0.8822:0.0:0.1178	.	390	Q8WWV3	RT4I1_HUMAN	N	390	ENSP00000358059:K390N	ENSP00000358059:K390N	K	-	3	2	RTN4IP1	107126585	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.969000	0.56816	2.857000	0.98124	0.650000	0.86243	AAG		0.388	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1			21	43	1	0	1.00905e-13	1	1.29777e-13	21	43					A	107019892	C	A	107019892	3	1	48	1	0	0	0	0	1	0	0	0	13744	912	32	2	24	2	RTN4IP1	6	107019892	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	51015	107019892	64095175	1792	6260										
SEC63	11231	broad.mit.edu	37	chr6	108204347	108204347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcatcttcctttactgcagCttcctaaaagggaaaggcaa	7	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:108204347C>T	ENST00000369002.4	-	17	1857	c.1678G>A	c.(1678-1680)Gct>Act	p.A560T		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	560					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)		TTTACTGCAGCTTCCTAAAAG	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.(1678-1680)Gct>Act		SEC63 homolog (S. cerevisiae)							104	90	94					6																	108204347		2203	4300	6503	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108204347C>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1678G>A	6.37:g.108204347C>T	ENSP00000357998:p.Ala560Thr		Somatic					p.A560T	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)	17	1857	-		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)	560					O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.1678G>A	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907646	0.33721	.	.	ENSG00000025796	ENST00000369002;ENST00000437345	T	0.62639	0.01	5.15	0.241	0.15494	Sec63 domain (2);	0.465144	0.26241	N	0.025511	T	0.24314	0.0589	L	0.43923	1.385	0.42518	D	0.992998	B;B	0.17465	0.022;0.008	B;B	0.11329	0.006;0.006	T	0.11591	-1.0581	10	0.12430	T	0.62	-0.4223	5.7703	0.18249	0.1248:0.6018:0.0:0.2734	.	560;560	Q9UGP8;B3KQF0	SEC63_HUMAN;.	T	560;211	ENSP00000357998:A560T	ENSP00000357998:A560T	A	-	1	0	SEC63	108311040	0.956000	0.32656	0.843000	0.33291	0.846000	0.48090	0.294000	0.19047	-0.186000	0.10533	-0.142000	0.14014	GCT		0.358	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		7	20	0	0	0	1	0	7	20					T	108204347	C	T	108204347	3	4	48	1	0	0	0	0	1	0	0	0	14020	797	28	3	624	3	SEC63	6	108204347	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1184455	108204347	62910720	1793	6261										
PPIL6	285755	broad.mit.edu	37	chr6	109752502	109752502	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagaaactgaccattaacaAaagaaatcacagaggaagaa	7	8	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109752502A>C	ENST00000521072.2	-	3	858	c.278T>G	c.(277-279)tTt>tGt	p.F93C	PPIL6_ENST00000524031.1_5'UTR|PPIL6_ENST00000440797.2_Missense_Mutation_p.F93C|AL109947.1_ENST00000459391.1_RNA|PPIL6_ENST00000424445.2_Missense_Mutation_p.F61C	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	93					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		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;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		ACCATTAACAAAAGAAATCAC	0.403																																						ENST00000521072.2																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(277-279)tTt>tGt		peptidylprolyl isomerase (cyclophilin)-like 6							75	73	74					6																	109752502		2203	4300	6503	SO:0001583	missense	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109752502A>C		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"radial spoke 12 homolog (Chlamydomonas)"						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.278T>G	6.37:g.109752502A>C	ENSP00000427929:p.Phe93Cys		Somatic				PPIL6_ENST00000440797.2_Missense_Mutation_p.F93C|PPIL6_ENST00000424445.2_Missense_Mutation_p.F61C|PPIL6_ENST00000524031.1_5'UTR	p.F93C	NM_173672.4	NP_775943.1	WXS	Illumina GAIIx	Phase_I	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	3	858	-		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)	93					A9NIU0|A9NIU9|E7EX15	Missense_Mutation	SNP	ENST00000521072.2	37	c.278T>G	CCDS5074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.01|16.01	3.000706|3.000706	0.54254|0.54254	.|.	.|.	ENSG00000185250|ENSG00000185250	ENST00000424445;ENST00000440797;ENST00000521072;ENST00000417394|ENST00000520723;ENST00000518648	T;T;T;T|.	0.34072|.	1.98;1.89;1.93;1.38|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.68238|0.68238	0.2979|0.2979	M|M	0.77820|0.77820	2.39|2.39	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.76071|.	0.979;0.987;0.979|.	T|T	0.71122|0.71122	-0.4684|-0.4684	10|6	0.87932|.	D|.	0|.	-16.0659|-16.0659	14.1498|14.1498	0.65375|0.65375	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	93;61;93|.	A9NIU9;E7EX15;Q8IXY8|.	.;.;PPIL6_HUMAN|.	C|L	61;93;93;50|32;40	ENSP00000407731:F61C;ENSP00000392257:F93C;ENSP00000427929:F93C;ENSP00000411731:F50C|.	ENSP00000411731:F50C|.	F|F	-|-	2|3	0|2	PPIL6|PPIL6	109859195|109859195	1.000000|1.000000	0.71417|0.71417	0.926000|0.926000	0.36857|0.36857	0.249000|0.249000	0.25844|0.25844	6.303000|6.303000	0.72794|0.72794	1.976000|1.976000	0.57569|0.57569	0.533000|0.533000	0.62120|0.62120	TTT|TTT		0.403	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4			22	37	0	0	0	1	0	22	37					C	109752502	A	C	109752502	3	2	48	1	0	0	0	0	1	0	0	0	12343	14	1	4	763	4	PPIL6	6	109752502	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1548155	109752502	61362565	1794	6262										
MICAL1	64780	broad.mit.edu	37	chr6	109766179	109766179	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agctgtcctacccatagtttCttttgctgttctggggaacc	9	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109766179C>A	ENST00000358807.3	-	23	3212	c.2901G>T	c.(2899-2901)aaG>aaT	p.K967N	MICAL1_ENST00000368952.4_Missense_Mutation_p.K986N|MICAL1_ENST00000358577.3_Missense_Mutation_p.K881N	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	967					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)		CCCATAGTTTCTTTTGCTGTT	0.542																																						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.(2956-2958)aaG>aaT		microtubule associated monooxygenase, calponin and LIM domain containing 1							114	114	114					6																	109766179		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109766179C>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.2901G>T	6.37:g.109766179C>A	ENSP00000351664:p.Lys967Asn		Somatic				MICAL1_ENST00000358577.3_Missense_Mutation_p.K881N|MICAL1_ENST00000358807.3_Missense_Mutation_p.K967N	p.K986N			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)	23	3248	-		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)	967					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.2958G>T	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893913	0.33442	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.45668	0.89;0.89;0.89	5.61	3.82	0.43975	Domain of unknown function DUF3585 (1);	0.331515	0.29139	N	0.013028	T	0.14743	0.0356	L	0.40543	1.245	0.31589	N	0.65413	B;P;B	0.35155	0.026;0.487;0.012	B;B;B	0.30943	0.022;0.122;0.027	T	0.05550	-1.0878	10	0.54805	T	0.06	.	7.9247	0.29867	0.0:0.7532:0.161:0.0859	.	986;881;967	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	N	967;986;881;491;223	ENSP00000351664:K967N;ENSP00000357948:K986N;ENSP00000351385:K881N	ENSP00000335372:K223N	K	-	3	2	MICAL1	109872872	0.618000	0.27051	0.650000	0.29550	0.744000	0.42396	1.024000	0.30077	0.727000	0.32360	0.655000	0.94253	AAG		0.542	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		26	87	1	0	8.24728e-16	1	1.09065e-15	26	87					A	109766179	C	A	109766179	3	1	48	1	0	0	0	0	1	0	0	0	9578	912	32	2	314	2	MICAL1	6	109766179	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	13677	109766179	61348888	1795	6263										
ZBTB24	9841	broad.mit.edu	37	chr6	109788914	109788914	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgaaagatttgccacagaTttcacaagtaaatggcttct	8	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109788914T>C	ENST00000230122.3	-	6	1479	c.1312A>G	c.(1312-1314)Atc>Gtc	p.I438V	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	438					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)		TTGCCACAGATTTCACAAGTA	0.333																																						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.(1312-1314)Atc>Gtc		zinc finger and BTB domain containing 24							92	90	91					6																	109788914		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109788914T>C	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.1312A>G	6.37:g.109788914T>C	ENSP00000230122:p.Ile438Val		Somatic					p.I438V	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)	6	1479	-		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)	438					Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.1312A>G	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.514660	0.44763	.	.	ENSG00000112365	ENST00000230122	T	0.11277	2.79	5.71	5.71	0.89125	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	0.10508	0.0257	N	0.15975	0.35	0.36932	D	0.891958	D	0.71674	0.998	D	0.79108	0.992	T	0.37361	-0.9709	10	0.34782	T	0.22	-24.0836	15.9837	0.80133	0.0:0.0:0.0:1.0	.	438	O43167	ZBT24_HUMAN	V	438	ENSP00000230122:I438V	ENSP00000230122:I438V	I	-	1	0	ZBTB24	109895607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.920000	0.70017	2.185000	0.69588	0.528000	0.53228	ATC		0.333	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		7	36	0	0	0	1	0	7	36					C	109788914	T	C	109788914	3	2	48	1	0	0	0	0	1	0	0	0	17546	1493	52	4	789	4	ZBTB24	6	109788914	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	22735	109788914	61326153	1796	6264										
ZBTB24	9841	broad.mit.edu	37	chr6	109802552	109802552	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actggcatttcctcctctctActtggctcacaagtaggctc	7	14	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109802552A>G	ENST00000230122.3	-	2	845	c.678T>C	c.(676-678)agT>agC	p.S226S		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	226					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)		CCTCCTCTCTACTTGGCTCAC	0.453																																						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.(676-678)agT>agC		zinc finger and BTB domain containing 24							240	236	237					6																	109802552		2203	4300	6503	SO:0001819	synonymous_variant	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802552A>G	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.678T>C	6.37:g.109802552A>G			Somatic					p.S226S	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	845	-		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)	226					Q17RC6|Q5TED5|Q8N455	Silent	SNP	ENST00000230122.3	37	c.678T>C	CCDS34509.1																																																																																				0.453	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		67	117	0	0	0	1	0	67	117					G	109802552	A	G	109802552	2	3	48	1	0	0	0	0	0	0	0	1	17546	388	14	4		4	ZBTB24	6	109802552	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	13638	109802552	61312515	1797	6265										
ZBTB24	9841	broad.mit.edu	37	chr6	109802872	109802872	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgtaagcctttaccaggtCatagacttttaagaactgag	9	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109802872C>A	ENST00000230122.3	-	2	525	c.358G>T	c.(358-360)Gac>Tac	p.D120Y		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	120	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)		TTTACCAGGTCATAGACTTTT	0.418																																						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.(358-360)Gac>Tac		zinc finger and BTB domain containing 24							129	134	132					6																	109802872		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802872C>A	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.358G>T	6.37:g.109802872C>A	ENSP00000230122:p.Asp120Tyr		Somatic					p.D120Y	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	525	-		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)	120			BTB.		Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.358G>T	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379341	0.82682	.	.	ENSG00000112365	ENST00000230122	T	0.68025	-0.3	5.81	5.81	0.92471	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.093484	0.64402	D	0.000001	T	0.79969	0.4538	M	0.73319	2.225	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.80730	-0.1252	10	0.87932	D	0	-35.0656	20.0804	0.97772	0.0:1.0:0.0:0.0	.	120;120	O43167-2;O43167	.;ZBT24_HUMAN	Y	120	ENSP00000230122:D120Y	ENSP00000230122:D120Y	D	-	1	0	ZBTB24	109909565	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.336000	0.79245	2.738000	0.93877	0.655000	0.94253	GAC		0.418	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		40	72	1	0	5.04308e-16	1	6.68172e-16	40	72					A	109802872	C	A	109802872	3	1	48	1	0	0	0	0	1	0	0	0	17546	826	29	2	1809	2	ZBTB24	6	109802872	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	320	109802872	61312195	1798	6266										
AKD1	221264	broad.mit.edu	37	chr6	109816601	109816601	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcggttcccttaatgggggAagcttgtgtggaagcttctg	14	7	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109816601A>G	ENST00000424296.2	-	39	5434	c.5358T>C	c.(5356-5358)ctT>ctC	p.L1786L	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1786					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)										TTAATGGGGGAAGCTTGTGTG	0.383																																						ENST00000424296.2																			0											c.(5356-5358)ctT>ctC		adenylate kinase 9							126	130	128					6																	109816601		2203	4300	6503	SO:0001819	synonymous_variant	221264							g.chr6:109816601A>G	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.5358T>C	6.37:g.109816601A>G			Somatic				RP5-919F19.5_ENST00000423747.1_RNA	p.L1786L	NM_001145128.2	NP_001138600.2	WXS	Illumina GAIIx	Phase_I					39	5434	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Silent	SNP	ENST00000424296.2	37	c.5358T>C	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.993|0.993	-0.693232|-0.693232	0.03303|0.03303	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000470564|ENST00000490722	.|.	.|.	.|.	5.5|5.5	-1.05|-1.05	0.10036|0.10036	.|.	.|.	.|.	.|.	.|.	T|T	0.36138|0.36138	0.0956|0.0956	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.30822|0.30822	-0.9965|-0.9965	4|4	.|.	.|.	.|.	.|.	7.0531|7.0531	0.25083|0.25083	0.3968:0.4075:0.1957:0.0|0.3968:0.4075:0.1957:0.0	.|.	.|.	.|.	.|.	S|P	624|187	.|.	.|.	F|S	-|-	2|1	0|0	AKD1|AKD1	109923294|109923294	0.927000|0.927000	0.31430|0.31430	0.992000|0.992000	0.48379|0.48379	0.119000|0.119000	0.20118|0.20118	0.050000|0.050000	0.14120|0.14120	-0.175000|-0.175000	0.10725|0.10725	-0.331000|-0.331000	0.08364|0.08364	TTC|TCC		0.383	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		15	31	0	0	0	1	0	15	31					G	109816601	A	G	109816601	2	3	48	1	0	0	0	0	0	0	0	1	460	233	9	4		4	AKD1	6	109816601	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	13729	109816601	61298466	1799	6267										
FIG4	9896	broad.mit.edu	37	chr6	110062741	110062741	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttcttaaaagaggtgcaaaCtgtgaggtaagatgacaaac	10	5	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:110062741C>A	ENST00000230124.3	+	8	994	c.870C>A	c.(868-870)aaC>aaA	p.N290K	FIG4_ENST00000368941.1_Intron|FIG4_ENST00000441478.2_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	290	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GAGGTGCAAACTGTGAGGTAA	0.383																																						ENST00000230124.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32						c.(868-870)aaC>aaA		FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)							114	115	115					6																	110062741		2203	4300	6503	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110062741C>A	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.870C>A	6.37:g.110062741C>A	ENSP00000230124:p.Asn290Lys		Somatic				FIG4_ENST00000368941.1_Intron|FIG4_ENST00000441478.2_Intron	p.N290K	NM_014845.5	NP_055660.1	WXS	Illumina GAIIx	Phase_I	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	8	994	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	290			SAC.		Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.870C>A	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554702	0.65425	.	.	ENSG00000112367	ENST00000230124	T	0.63096	-0.02	5.07	4.2	0.49525	Synaptojanin, N-terminal (2);	0.160214	0.53938	D	0.000056	T	0.78685	0.4322	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82581	-0.0386	10	0.87932	D	0	-21.1485	8.237	0.31631	0.0:0.702:0.0:0.298	.	290	Q92562	FIG4_HUMAN	K	290	ENSP00000230124:N290K	ENSP00000230124:N290K	N	+	3	2	FIG4	110169434	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.580000	0.36547	1.131000	0.42111	0.650000	0.86243	AAC		0.383	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		30	44	1	0	7.26314e-15	1	9.49782e-15	30	44					A	110062741	C	A	110062741	3	1	48	1	0	0	0	0	1	0	0	0	5896	564	20	5	900	5	FIG4	6	110062741	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	246140	110062741	61052326	1800	6268										
WASF1	8936	broad.mit.edu	37	chr6	110423417	110423417	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttctatcaaacctgtagcaGaactgaaatgacaaagagat	7	7	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:110423417G>T	ENST00000392589.1	-	10	1732	c.896C>A	c.(895-897)tCt>tAt	p.S299Y	WASF1_ENST00000392588.1_Missense_Mutation_p.S299Y|WASF1_ENST00000392586.1_Missense_Mutation_p.S299Y|WASF1_ENST00000392587.2_Missense_Mutation_p.S299Y|WASF1_ENST00000359451.2_Missense_Mutation_p.S299Y	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	299					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)		ACCTGTAGCAGAACTGAAATG	0.418																																						ENST00000392589.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16						c.(895-897)tCt>tAt		WAS protein family, member 1							95	92	93					6																	110423417		2203	4300	6503	SO:0001583	missense	8936				actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding	g.chr6:110423417G>T	D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"A-kinase anchor proteins"	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.896C>A	6.37:g.110423417G>T	ENSP00000376368:p.Ser299Tyr		Somatic				WASF1_ENST00000392587.2_Missense_Mutation_p.S299Y|WASF1_ENST00000392588.1_Missense_Mutation_p.S299Y|WASF1_ENST00000359451.2_Missense_Mutation_p.S299Y|WASF1_ENST00000392586.1_Missense_Mutation_p.S299Y	p.S299Y	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	1732	-		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)	299					E1P5F2|Q5SZK7	Missense_Mutation	SNP	ENST00000392589.1	37	c.896C>A	CCDS5080.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520572	0.64747	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.64	5.64	0.86602	.	0.588848	0.18696	N	0.133721	T	0.21761	0.0524	N	0.14661	0.345	0.49915	D	0.999836	B	0.32693	0.38	B	0.33521	0.165	T	0.09292	-1.0681	10	0.21540	T	0.41	.	19.7561	0.96291	0.0:0.0:1.0:0.0	.	299	Q92558	WASF1_HUMAN	Y	299	ENSP00000376365:S299Y;ENSP00000376366:S299Y;ENSP00000376368:S299Y;ENSP00000376367:S299Y;ENSP00000352425:S299Y	ENSP00000352425:S299Y	S	-	2	0	WASF1	110530110	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.154000	0.94694	2.672000	0.90937	0.539000	0.68188	TCT		0.418	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041784.3	NM_003931		36	68	1	0	7.04047e-22	1	9.7605e-22	36	68					T	110423417	G	T	110423417	3	4	48	1	0	0	0	0	1	0	0	0	17267	942	33	2	791	2	WASF1	6	110423417	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	360676	110423417	60691650	1801	6269										
CDK19	23097	broad.mit.edu	37	chr6	110988687	110988687	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaggtaatggataccatcaaGaatctggtaaagtaaggatt	11	4	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:110988687G>A	ENST00000368911.3	-	4	585	c.406C>T	c.(406-408)Ctt>Ttt	p.L136F	CDK19_ENST00000323817.3_Missense_Mutation_p.L76F	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	136	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						ATACCATCAAGAATCTGGTAA	0.328																																						ENST00000368911.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						c.(406-408)Ctt>Ttt		cyclin-dependent kinase 19							93	92	92					6																	110988687		2203	4300	6503	SO:0001583	missense	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110988687G>A	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.406C>T	6.37:g.110988687G>A	ENSP00000357907:p.Leu136Phe		Somatic				CDK19_ENST00000323817.3_Missense_Mutation_p.L76F	p.L136F	NM_015076.3	NP_055891.1	WXS	Illumina GAIIx	Phase_I	Q9BWU1	CDK19_HUMAN			4	585	-			136			Protein kinase.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	c.406C>T	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334497	0.81801	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000457688	T;T;T	0.55234	0.53;0.53;0.53	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);	0.209202	0.42420	D	0.000705	T	0.57651	0.2068	L	0.49350	1.555	0.80722	D	1	D	0.63046	0.992	D	0.70227	0.968	T	0.60949	-0.7161	10	0.62326	D	0.03	-19.1001	12.5318	0.56120	0.0764:0.0:0.9236:0.0	.	136	Q9BWU1	CDK19_HUMAN	F	136;76;75;76	ENSP00000357907:L136F;ENSP00000317665:L76F;ENSP00000415621:L76F	ENSP00000317665:L76F	L	-	1	0	CDK19	111095380	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.628000	0.83189	2.545000	0.85829	0.551000	0.68910	CTT		0.328	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		20	29	0	0	0	1	0	20	29					A	110988687	G	A	110988687	3	1	48	1	0	0	0	0	1	0	0	0	3137	942	33	3	1142	3	CDK19	6	110988687	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	565270	110988687	60126380	1802	6270										
SLC16A10	117247	broad.mit.edu	37	chr6	111540115	111540115	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcctcatcatgggtctcttCgatggatgcttcatttccat	8	11	4	0	rs536369026		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:111540115C>T	ENST00000368851.5	+	5	1360	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	SLC16A10_ENST00000368850.3_Silent_p.F81F	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	395					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)	TGGGTCTCTTCGATGGATGCT	0.468													C|||	1	0.000199681	0	0	5008	,	,		18671	0		0	False		,,,				2504	0.001					ENST00000368850.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(241-243)ttC>ttT		solute carrier family 16 (aromatic amino acid transporter), member 10							305	257	273					6																	111540115		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.chr6:111540115C>T	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"Solute carriers"	17027	protein-coding gene	gene with protein product		607550	"solute carrier family 16 (monocarboxylic acid transporters), member 10"			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.1185C>T	6.37:g.111540115C>T			Somatic				SLC16A10_ENST00000368851.5_Silent_p.F395F	p.F81F			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	729	+		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)	395					B3KWY0|Q6ZMG0|Q8WVI5	Silent	SNP	ENST00000368851.5	37	c.243C>T	CCDS5089.1																																																																																				0.468	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			39	77	0	0	0	1	0	39	77					T	111540115	C	T	111540115	2	4	48	1	0	0	0	0	0	0	0	1	14418	883	31	1		1	SLC16A10	6	111540115	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	551428	111540115	59574952	1803	6271										
REV3L	5980	broad.mit.edu	37	chr6	111680169	111680169	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggatccggttctaagtctcGtctagttcgagcatgcaact	10	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:111680169G>A	ENST00000358835.3	-	18	7382	c.6928C>T	c.(6928-6930)Cga>Tga	p.R2310*	REV3L_ENST00000368802.3_Nonsense_Mutation_p.R2310*|REV3L_ENST00000435970.1_Nonsense_Mutation_p.R2232*|REV3L-IT1_ENST00000411895.1_RNA|REV3L_ENST00000368805.1_Nonsense_Mutation_p.R2310*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2310					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTAAGTCTCGTCTAGTTCGA	0.373								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(6694-6696)Cga>Tga	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							150	140	143					6																	111680169		2203	4300	6503	SO:0001587	stop_gained	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111680169G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6928C>T	6.37:g.111680169G>A	ENSP00000351697:p.Arg2310*		Somatic				REV3L_ENST00000368802.3_Nonsense_Mutation_p.R2310*|REV3L_ENST00000358835.3_Nonsense_Mutation_p.R2310*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.R2310*	p.R2232*			WXS	Illumina GAIIx	Phase_I	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	19	7510	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2310					O43214|Q5TC33	Nonsense_Mutation	SNP	ENST00000358835.3	37	c.6694C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	50	16.548937	0.99866	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	.	.	.	5.65	-1.84	0.07809	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5362	0.99232	0.0:0.0:0.1857:0.8143	.	.	.	.	X	2310;2310;2310;2232;383	.	ENSP00000351697:R2310X	R	-	1	2	REV3L	111786862	1.000000	0.71417	0.987000	0.45799	0.761000	0.43186	1.434000	0.34958	-0.326000	0.08564	-0.319000	0.08680	CGA		0.373	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		20	39	0	0	0	1	0	20	39					A	111680169	G	A	111680169	4	1	48	1	0	0	0	0	0	1	0	0	13255	1153	40	1	2528	1	REV3L	6	111680169	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	140054	111680169	59434898	1804	6272										
REV3L	5980	broad.mit.edu	37	chr6	111693940	111693940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttcagaatgttagcagttCgaggggtgaagctgccattt	13	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:111693940C>T	ENST00000358835.3	-	14	6072	c.5618G>A	c.(5617-5619)cGa>cAa	p.R1873Q	REV3L_ENST00000368802.3_Missense_Mutation_p.R1873Q|REV3L_ENST00000435970.1_Missense_Mutation_p.R1795Q|REV3L_ENST00000368805.1_Missense_Mutation_p.R1873Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1873	Mediates interaction with MAD2L2.				DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.R1795Q(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTTAGCAGTTCGAGGGGTGAA	0.413								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			1	Substitution - Missense(1)	p.R1795Q(1)	large_intestine(1)	NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5383-5385)cGa>cAa	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							185	190	189					6																	111693940		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111693940C>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5618G>A	6.37:g.111693940C>T	ENSP00000351697:p.Arg1873Gln		Somatic				REV3L_ENST00000368802.3_Missense_Mutation_p.R1873Q|REV3L_ENST00000358835.3_Missense_Mutation_p.R1873Q|REV3L_ENST00000368805.1_Missense_Mutation_p.R1873Q	p.R1795Q			WXS	Illumina GAIIx	Phase_I	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	6200	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1873					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5384G>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530228	0.85706	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01548	4.87;4.87;4.87;4.78	5.93	5.93	0.95920	Ribonuclease H-like (1);	0.082380	0.50627	D	0.000107	T	0.03783	0.0107	L	0.51422	1.61	0.46044	D	0.998832	D	0.76494	0.999	P	0.57204	0.815	T	0.55915	-0.8065	10	0.49607	T	0.09	-3.391	20.3368	0.98748	0.0:1.0:0.0:0.0	.	1873	O60673	DPOLZ_HUMAN	Q	1873;1873;1873;1795	ENSP00000357792:R1873Q;ENSP00000357795:R1873Q;ENSP00000351697:R1873Q;ENSP00000402003:R1795Q	ENSP00000351697:R1873Q	R	-	2	0	REV3L	111800633	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.232000	0.78116	2.805000	0.96524	0.655000	0.94253	CGA		0.413	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		55	131	0	0	0	1	0	55	131					T	111693940	C	T	111693940	3	4	48	1	0	0	0	0	1	0	0	0	13255	884	31	1	3854	1	REV3L	6	111693940	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	13771	111693940	59421127	1805	6273										
FYN	2534	broad.mit.edu	37	chr6	111983095	111983095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagatggggcagtcctgcggGcagggcatcctgtagcctcg	17	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:111983095G>A	ENST00000354650.3	-	14	2067	c.1461C>T	c.(1459-1461)tgC>tgT	p.C487C	FYN_ENST00000229471.4_Silent_p.C432C|FYN_ENST00000368678.4_Silent_p.C484C|FYN_ENST00000538466.1_Silent_p.C484C|FYN_ENST00000356013.2_Silent_p.C432C|FYN_ENST00000368682.3_Silent_p.C484C|FYN_ENST00000229470.5_Silent_p.C435C|FYN_ENST00000368667.2_Silent_p.C487C	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	487	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	AGTCCTGCGGGCAGGGCATCC	0.597																																						ENST00000354650.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1459-1461)tgC>tgT		FYN oncogene related to SRC, FGR, YES	Dasatinib(DB01254)						119	121	120					6																	111983095		2203	4300	6503	SO:0001819	synonymous_variant	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:111983095G>A	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"SH2 domain containing"	4037	protein-coding gene	gene with protein product		137025	"FYN oncogene related to SRC, FGR, YES"			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1461C>T	6.37:g.111983095G>A			Somatic				FYN_ENST00000368667.2_Silent_p.C487C|FYN_ENST00000356013.2_Silent_p.C432C|FYN_ENST00000229471.4_Silent_p.C432C|FYN_ENST00000368682.3_Silent_p.C484C|FYN_ENST00000538466.1_Silent_p.C484C|FYN_ENST00000368678.4_Silent_p.C484C|FYN_ENST00000229470.5_Silent_p.C435C	p.C487C	NM_002037.5	NP_002028.1	WXS	Illumina GAIIx	Phase_I	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	14	2067	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	487			Protein kinase.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Silent	SNP	ENST00000354650.3	37	c.1461C>T	CCDS5094.1																																																																																				0.597	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			43	86	0	0	0	1	0	43	86					A	111983095	G	A	111983095	2	1	48	1	0	0	0	0	0	0	0	1	6134	1195	42	3		3	FYN	6	111983095	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	289155	111983095	59131972	1806	6274										
FYN	2534	broad.mit.edu	37	chr6	112020831	112020831	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagtttgtggggtacaactcGatgcaatcacagttaagtta	10	6	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:112020831G>A	ENST00000354650.3	-	9	1469				FYN_ENST00000229471.4_Intron|FYN_ENST00000368678.4_Missense_Mutation_p.S247L|FYN_ENST00000538466.1_Missense_Mutation_p.S247L|FYN_ENST00000356013.2_Intron|FYN_ENST00000476769.2_Intron|FYN_ENST00000368682.3_Missense_Mutation_p.S247L|FYN_ENST00000229470.5_Missense_Mutation_p.S198L|FYN_ENST00000368667.2_Intron	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase						activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GGTACAACTCGATGCAATCAC	0.418																																						ENST00000368682.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(739-741)tCg>tTg		FYN oncogene related to SRC, FGR, YES	Dasatinib(DB01254)						117	109	112					6																	112020831		2203	4300	6503	SO:0001627	intron_variant	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:112020831G>A	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"SH2 domain containing"	4037	protein-coding gene	gene with protein product		137025	"FYN oncogene related to SRC, FGR, YES"			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.862+475C>T	6.37:g.112020831G>A			Somatic				FYN_ENST00000368667.2_Intron|FYN_ENST00000356013.2_Intron|FYN_ENST00000229471.4_Intron|FYN_ENST00000538466.1_Missense_Mutation_p.S247L|FYN_ENST00000354650.3_Intron|FYN_ENST00000368678.4_Missense_Mutation_p.S247L|FYN_ENST00000229470.5_Missense_Mutation_p.S198L|FYN_ENST00000476769.2_Intron	p.S247L			WXS	Illumina GAIIx	Phase_I	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	9	961	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	247					B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.740C>T	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725232	0.48833	.	.	ENSG00000010810	ENST00000368682;ENST00000368678;ENST00000229470;ENST00000538466;ENST00000544792	T;T;T;T	0.75154	-0.91;-0.91;1.83;-0.91	5.87	5.87	0.94306	.	.	.	.	.	T	0.40372	0.1114	N	0.04132	-0.27	0.21355	N	0.999719	B	0.11235	0.004	B	0.09377	0.004	T	0.15780	-1.0425	9	0.20046	T	0.44	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	247	E1P556	.	L	247;247;198;247;198	ENSP00000357671:S247L;ENSP00000357667:S247L;ENSP00000229470:S198L;ENSP00000440646:S247L	ENSP00000229470:S198L	S	-	2	0	FYN	112127524	1.000000	0.71417	0.937000	0.37676	0.911000	0.54048	6.243000	0.72384	2.941000	0.99782	0.655000	0.94253	TCG		0.418	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			21	51	0	0	0	1	0	21	51					A	112020831	G	A	112020831	1	1	48	0	1	0	0	0	0	0	0	0	6134	1059	37	1		1	FYN	6	112020831	Intron	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	37736	112020831	59094236	1807	6275										
LAMA4	3910	broad.mit.edu	37	chr6	112476055	112476055	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaagtgaagatatttactaGactctgcctttgcttgcagt	9	7	1	3	rs369776441		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:112476055G>T	ENST00000230538.7	-	16	2451	c.2054C>A	c.(2053-2055)tCt>tAt	p.S685Y	RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000424408.2_Missense_Mutation_p.S678Y|LAMA4_ENST00000389463.4_Missense_Mutation_p.S678Y|RP1-142L7.5_ENST00000425503.1_RNA|RP1-142L7.5_ENST00000588689.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.S678Y	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	685	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATATTTACTAGACTCTGCCTT	0.383																																						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.(2053-2055)tCt>tAt		laminin, alpha 4							186	182	183					6																	112476055		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.chr6:112476055G>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2054C>A	6.37:g.112476055G>T	ENSP00000230538:p.Ser685Tyr		Somatic				RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.S678Y|LAMA4_ENST00000424408.2_Missense_Mutation_p.S678Y|LAMA4_ENST00000522006.1_Missense_Mutation_p.S678Y|RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000588689.1_RNA	p.S685Y	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)	16	2451	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	685			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2054C>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591408	0.46214	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.13901	2.56;2.55;2.55;2.55	5.44	4.57	0.56435	.	0.420777	0.28082	N	0.016661	T	0.03959	0.0111	N	0.21448	0.665	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.16041	-1.0416	10	0.51188	T	0.08	.	9.8717	0.41177	0.0738:0.0:0.787:0.1391	.	685;678	Q16363;Q16363-2	LAMA4_HUMAN;.	Y	685;678;678;678	ENSP00000230538:S685Y;ENSP00000429488:S678Y;ENSP00000374114:S678Y;ENSP00000416470:S678Y	ENSP00000230538:S685Y	S	-	2	0	LAMA4	112582748	0.998000	0.40836	0.713000	0.30519	0.974000	0.67602	4.290000	0.59019	1.535000	0.49220	0.591000	0.81541	TCT		0.383	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		17	38	1	0	5.01169e-05	1	5.45927e-05	17	38					T	112476055	G	T	112476055	3	4	48	1	0	0	0	0	1	0	0	0	8617	942	33	2	3513	2	LAMA4	6	112476055	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	455224	112476055	58639012	1808	6276										
RFPL4B	442247	broad.mit.edu	37	chr6	112671559	112671559	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctggatgctgacttagaaGaaatccagttttttgatgtt	9	6	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:112671559G>T	ENST00000441065.2	+	3	961	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	217	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)		TGACTTAGAAGAAATCCAGTT	0.448																																						ENST00000441065.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14						c.(649-651)Gaa>Taa		ret finger protein-like 4B							67	63	65					6																	112671559		2203	4300	6503	SO:0001587	stop_gained	442247						zinc ion binding	g.chr6:112671559G>T	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.649G>T	6.37:g.112671559G>T	ENSP00000423391:p.Glu217*		Somatic					p.E217*	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	961	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	217			B30.2/SPRY.		A2RU91	Nonsense_Mutation	SNP	ENST00000441065.2	37	c.649G>T	CCDS34515.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665831	0.88251	.	.	ENSG00000251258	ENST00000441065	.	.	.	4.17	1.45	0.22620	.	0.000000	0.35739	N	0.003007	.	.	.	.	.	.	0.53688	D	0.999971	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	4.1311	0.10149	0.2895:0.1721:0.5383:0.0	.	.	.	.	X	217	.	ENSP00000423391:E217X	E	+	1	0	RFPL4B	112778252	0.631000	0.27164	0.001000	0.08648	0.061000	0.15899	0.151000	0.16283	0.319000	0.23209	-0.126000	0.14955	GAA		0.448	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		25	33	1	0	6.32553e-13	1	8.04352e-13	25	33					T	112671559	G	T	112671559	4	4	48	1	0	0	0	0	0	1	0	0	13271	943	33	2	651	2	RFPL4B	6	112671559	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	195504	112671559	58443508	1809	6277										
HDAC2	3066	broad.mit.edu	37	chr6	114264533	114264533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acctgtttttttgtcctctgTttctttcttatcttcttcaa	3	10	6	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:114264533T>C	ENST00000519065.1	-	12	1736	c.1360A>G	c.(1360-1362)Aca>Gca	p.T454A	HDAC2_ENST00000519108.1_Missense_Mutation_p.T424A|HDAC2_ENST00000398283.2_Missense_Mutation_p.T548A|HDAC2_ENST00000368632.2_Missense_Mutation_p.T424A			Q92769	HDAC2_HUMAN	histone deacetylase 2	454					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	ttgtcctctgtttctttctta	0.333																																						ENST00000519065.1																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(1360-1362)Aca>Gca		histone deacetylase 2	Vorinostat(DB02546)						183	169	174					6																	114264533		1834	4089	5923	SO:0001583	missense	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114264533T>C	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.1360A>G	6.37:g.114264533T>C	ENSP00000430432:p.Thr454Ala		Somatic				HDAC2_ENST00000398283.2_Missense_Mutation_p.T548A|HDAC2_ENST00000519108.1_Missense_Mutation_p.T424A|HDAC2_ENST00000368632.2_Missense_Mutation_p.T424A	p.T454A			WXS	Illumina GAIIx	Phase_I	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	12	1736	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	454					B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	c.1360A>G	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	T	12.10	1.835916	0.32421	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	T;T;T;T	0.73789	-0.74;-0.78;-0.74;-0.74	6.16	0.167	0.15006	.	0.393363	0.24046	N	0.042051	T	0.25644	0.0624	N	0.08118	0	0.41321	D	0.987178	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25082	-1.0142	10	0.06891	T	0.86	-3.3612	10.3131	0.43721	0.0:0.3551:0.0:0.6449	.	424;454	B3KRS5;Q92769	.;HDAC2_HUMAN	A	454;548;424;424	ENSP00000430432:T454A;ENSP00000381331:T548A;ENSP00000430008:T424A;ENSP00000357621:T424A	ENSP00000357621:T424A	T	-	1	0	HDAC2	114371226	0.999000	0.42202	0.531000	0.27976	0.965000	0.64279	1.420000	0.34804	-0.168000	0.10853	-0.256000	0.11100	ACA		0.333	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			3	36	0	0	0	1	0	3	36					C	114264533	T	C	114264533	3	2	48	1	0	0	0	0	1	0	0	0	7016	1725	60	4	118	4	HDAC2	6	114264533	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1592974	114264533	56850534	1810	6278										
DSE	29940	broad.mit.edu	37	chr6	116758182	116758182	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacagaaagaactacccataGatgaagatgaagaaatgaaa	8	6	0	8			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:116758182G>T	ENST00000331677.3	+	7	2995	c.2551G>T	c.(2551-2553)Gat>Tat	p.D851Y	DSE_ENST00000537543.1_Missense_Mutation_p.D870Y|DSE_ENST00000359564.2_Missense_Mutation_p.D851Y|DSE_ENST00000452085.3_Missense_Mutation_p.D851Y			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	851					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)		ACTACCCATAGATGAAGATGA	0.383																																						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.(2551-2553)Gat>Tat		dermatan sulfate epimerase							85	90	88					6																	116758182		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116758182G>T	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.2551G>T	6.37:g.116758182G>T	ENSP00000332151:p.Asp851Tyr		Somatic				DSE_ENST00000537543.1_Missense_Mutation_p.D870Y|DSE_ENST00000359564.2_Missense_Mutation_p.D851Y|DSE_ENST00000452085.3_Missense_Mutation_p.D851Y	p.D851Y			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)	7	2995	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	851					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.2551G>T	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.291072	0.59976	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	6.16	6.16	0.99307	.	0.045910	0.85682	D	0.000000	T	0.56202	0.1969	N	0.24115	0.695	0.58432	D	0.999998	D;D	0.58620	0.983;0.965	P;P	0.58873	0.847;0.748	T	0.62469	-0.6848	10	0.87932	D	0	-22.5682	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	870;851	B7Z765;Q9UL01	.;DSE_HUMAN	Y	851;870;851;851	ENSP00000404049:D851Y;ENSP00000441152:D870Y;ENSP00000332151:D851Y;ENSP00000352567:D851Y	ENSP00000332151:D851Y	D	+	1	0	DSE	116864875	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.479000	0.73600	2.937000	0.99478	0.650000	0.86243	GAT		0.383	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		18	40	1	0	2.48551e-13	1	3.17925e-13	18	40					T	116758182	G	T	116758182	3	4	48	1	0	0	0	0	1	0	0	0	4776	942	33	2	2569	2	DSE	6	116758182	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2493649	116758182	54356885	1811	6279										
RSPH4A	345895	broad.mit.edu	37	chr6	116949485	116949485	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccaagtgattgatctagtaGaatccctatccaattgggtt	8	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:116949485G>T	ENST00000229554.5	+	3	1752	c.1615G>T	c.(1615-1617)Gaa>Taa	p.E539*	RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.E539*|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	539	Glu-rich.				axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGATCTAGTAGAATCCCTATC	0.423									Kartagener syndrome																													ENST00000229554.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1615-1617)Gaa>Taa		radial spoke head 4 homolog A (Chlamydomonas)							128	131	130					6																	116949485		2203	4300	6503	SO:0001587	stop_gained	345895	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116949485G>T		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"radial spokehead-like 3"	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1615G>T	6.37:g.116949485G>T	ENSP00000229554:p.Glu539*		Somatic				RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.E539*	p.E539*	NM_001010892.2	NP_001010892.1	WXS	Illumina GAIIx	Phase_I	Q5TD94	RSH4A_HUMAN			3	1752	+			539			Glu-rich.		B4DSI1|Q3KP24|Q5TD95	Nonsense_Mutation	SNP	ENST00000229554.5	37	c.1615G>T	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	36	5.858905	0.97036	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	.	.	.	5.86	5.86	0.93980	.	0.157368	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-12.7507	17.671	0.88217	0.0:0.0:1.0:0.0	.	.	.	.	X	539;539;334	.	ENSP00000229554:E539X	E	+	1	0	RSPH4A	117056178	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	4.178000	0.58284	2.778000	0.95560	0.655000	0.94253	GAA		0.423	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		28	69	1	0	2.47511e-08	1	2.91589e-08	28	69					T	116949485	G	T	116949485	4	4	48	1	0	0	0	0	0	1	0	0	13721	943	33	2	1625	2	RSPH4A	6	116949485	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	191303	116949485	54165582	1812	6280										
ROS1	6098	broad.mit.edu	37	chr6	117609891	117609891	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taccatatagtttaacccttCtcggttcttcgtttccatta	4	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:117609891C>A	ENST00000368508.3	-	43	7006	c.6808G>T	c.(6808-6810)Gaa>Taa	p.E2270*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.E2264*	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2270					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.E2270K(2)	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)		TTTAACCCTTCTCGGTTCTTC	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)	2	Substitution - Missense(2)	p.E2270K(2)	kidney(2)	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.(6808-6810)Gaa>Taa		c-ros oncogene 1 , receptor tyrosine kinase							79	79	79					6																	117609891		2203	4300	6503	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.chr6:117609891C>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.6808G>T	6.37:g.117609891C>A	ENSP00000357494:p.Glu2270*		Somatic				ROS1_ENST00000368507.3_Nonsense_Mutation_p.E2264*	p.E2270*	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)	43	7006	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2270					Q15368|Q5TDB5	Nonsense_Mutation	SNP	ENST00000368508.3	37	c.6808G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	47	13.205311	0.99727	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	4.5	3.61	0.41365	.	0.112123	0.38959	N	0.001514	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.4372	0.44443	0.0:0.906:0.0:0.094	.	.	.	.	X	2270;2264	.	ENSP00000357493:E2264X	E	-	1	0	ROS1	117716584	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	2.680000	0.46918	2.337000	0.79520	0.563000	0.77884	GAA		0.408	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			20	27	1	0	1.33834e-09	1	1.61283e-09	20	27					A	117609891	C	A	117609891	4	1	48	1	0	0	0	0	0	1	0	0	13546	922	32	2	239	2	ROS1	6	117609891	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	660406	117609891	53505176	1813	6281										
ROS1	6098	broad.mit.edu	37	chr6	117715350	117715350	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catccatgatgaaatacattCtttgataaagccaatctatg	5	8	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:117715350C>A	ENST00000368508.3	-	10	1337	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	ROS1_ENST00000368507.3_Missense_Mutation_p.R389I|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	380					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.R380I(2)	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)		GAAATACATTCTTTGATAAAG	0.353			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)	2	Substitution - Missense(2)	p.R380I(2)	large_intestine(2)	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.(1138-1140)aGa>aTa		c-ros oncogene 1 , receptor tyrosine kinase							52	54	53					6																	117715350		2203	4299	6502	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.chr6:117715350C>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.1139G>T	6.37:g.117715350C>A	ENSP00000357494:p.Arg380Ile		Somatic				ROS1_ENST00000368507.3_Missense_Mutation_p.R389I|GOPC_ENST00000467125.1_Intron	p.R380I	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)	10	1337	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	380					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.1139G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755001	0.69648	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91792	-2.91;-2.91	5.12	3.32	0.38043	.	0.160445	0.43919	D	0.000512	D	0.90435	0.7005	L	0.59436	1.845	0.80722	D	1	D	0.61697	0.99	P	0.56398	0.797	D	0.90683	0.4607	10	0.72032	D	0.01	.	8.15	0.31134	0.0:0.7539:0.0:0.2461	.	380	P08922	ROS1_HUMAN	I	380;389	ENSP00000357494:R380I;ENSP00000357493:R389I	ENSP00000357493:R389I	R	-	2	0	ROS1	117822043	0.961000	0.32948	0.994000	0.49952	0.983000	0.72400	0.046000	0.14035	1.471000	0.48121	0.650000	0.86243	AGA		0.353	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			5	12	1	0	0.000602214	1	0.000636035	5	12					A	117715350	C	A	117715350	3	1	48	1	0	0	0	0	1	0	0	0	13546	913	32	2	6040	2	ROS1	6	117715350	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	105459	117715350	53399717	1814	6282										
SLC35F1	222553	broad.mit.edu	37	chr6	118228913	118228913	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcccccctgagcagccgcaGcagcagctgcagccgccgtc	11	19	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:118228913G>A	ENST00000360388.4	+	1	225	c.24G>A	c.(22-24)caG>caA	p.Q8Q		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	8					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)		AGCAGCCGCAGCAGCAGCTGC	0.741																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(22-24)caG>caA		solute carrier family 35, member F1							9	12	11					6																	118228913		1499	3306	4805	SO:0001819	synonymous_variant	222553				transport	integral to membrane		g.chr6:118228913G>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.24G>A	6.37:g.118228913G>A			Somatic					p.Q8Q	NM_001029858.3	NP_001025029.2	WXS	Illumina GAIIx	Phase_I	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	1	225	+			8					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Silent	SNP	ENST00000360388.4	37	c.24G>A	CCDS34524.1																																																																																				0.741	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		12	11	0	0	0	1	0	12	11					A	118228913	G	A	118228913	2	1	48	1	0	0	0	0	0	0	0	1	14603	962	34	3		3	SLC35F1	6	118228913	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	513563	118228913	52886154	1815	6283										
SLC35F1	222553	broad.mit.edu	37	chr6	118475689	118475689	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgactagcaagtatctgtcAgaagatttccacgccaacac	7	11	2	3	rs529939260		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:118475689A>G	ENST00000360388.4	+	2	456	c.255A>G	c.(253-255)tcA>tcG	p.S85S		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	85					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)		AGTATCTGTCAGAAGATTTCC	0.443																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(253-255)tcA>tcG		solute carrier family 35, member F1							220	208	212					6																	118475689		2203	4300	6503	SO:0001819	synonymous_variant	222553				transport	integral to membrane		g.chr6:118475689A>G	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.255A>G	6.37:g.118475689A>G			Somatic					p.S85S	NM_001029858.3	NP_001025029.2	WXS	Illumina GAIIx	Phase_I	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	2	456	+			85					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Silent	SNP	ENST00000360388.4	37	c.255A>G	CCDS34524.1																																																																																				0.443	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		9	141	0	0	0	1	0	9	141					G	118475689	A	G	118475689	2	3	48	1	0	0	0	0	0	0	0	1	14603	175	7	4		4	SLC35F1	6	118475689	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	246776	118475689	52639378	1816	6284										
SLC35F1	222553	broad.mit.edu	37	chr6	118556698	118556698	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaacctcctggcaattttaCgacgaagatggtggaagtac	10	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:118556698C>T	ENST00000360388.4	+	3	577	c.376C>T	c.(376-378)Cga>Tga	p.R126*		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	126					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)		GGCAATTTTACGACGAAGATG	0.378																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(376-378)Cga>Tga		solute carrier family 35, member F1							110	105	107					6																	118556698		2203	4300	6503	SO:0001587	stop_gained	222553				transport	integral to membrane		g.chr6:118556698C>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.376C>T	6.37:g.118556698C>T	ENSP00000353557:p.Arg126*		Somatic					p.R126*	NM_001029858.3	NP_001025029.2	WXS	Illumina GAIIx	Phase_I	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	3	577	+			126					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Nonsense_Mutation	SNP	ENST00000360388.4	37	c.376C>T	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307377	0.81247	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.78	3.72	0.42706	.	0.070983	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	12.4861	0.55874	0.5495:0.4505:0.0:0.0	.	.	.	.	X	126	.	ENSP00000353557:R126X	R	+	1	2	SLC35F1	118663391	1.000000	0.71417	1.000000	0.80357	0.115000	0.19883	6.381000	0.73163	1.567000	0.49668	-0.181000	0.13052	CGA		0.378	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		9	30	0	0	0	1	0	9	30					T	118556698	C	T	118556698	4	4	48	1	0	0	0	0	0	1	0	0	14603	528	19	1	386	1	SLC35F1	6	118556698	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	81009	118556698	52558369	1817	6285										
ASF1A	25842	broad.mit.edu	37	chr6	119226904	119226904	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgtacctatcgaggacaaGaatttattagagttggctat	9	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:119226904G>T	ENST00000229595.5	+	3	507	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	105	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|muscle cell differentiation (GO:0042692)|negative regulation of chromatin silencing (GO:0031936)|nucleosome assembly (GO:0006334)|osteoblast differentiation (GO:0001649)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		TCGAGGACAAGAATTTATTAG	0.358																																						ENST00000229595.5																			0				endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						c.(313-315)Gaa>Taa		anti-silencing function 1A histone chaperone							153	151	151					6																	119226904		1849	4097	5946	SO:0001587	stop_gained	25842				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding	g.chr6:119226904G>T	AF279306	CCDS47469.1	6q22.31	2013-05-01	2013-05-01		ENSG00000111875	ENSG00000111875			20995	protein-coding gene	gene with protein product		609189	"ASF1 anti-silencing function 1 homolog A (S. cerevisiae)"			10810093, 11042152	Standard	NM_014034		Approved	DKFZP547E2110, CIA	uc011ebn.2	Q9Y294	OTTHUMG00000015470	ENST00000229595.5:c.313G>T	6.37:g.119226904G>T	ENSP00000229595:p.Glu105*		Somatic				MCM9_ENST00000316316.6_Intron	p.E105*	NM_014034.2	NP_054753.1	WXS	Illumina GAIIx	Phase_I	Q9Y294	ASF1A_HUMAN		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)	3	507	+		all_cancers(87;0.122)|all_epithelial(87;0.179)	105			Interaction with histone H3, CHAF1B, and HIRA.		Q6IA08|Q9P014	Nonsense_Mutation	SNP	ENST00000229595.5	37	c.313G>T	CCDS47469.1	.	.	.	.	.	.	.	.	.	.	G	38	6.870236	0.97901	.	.	ENSG00000111875	ENST00000229595	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-15.7768	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	105	.	ENSP00000229595:E105X	E	+	1	0	ASF1A	119268603	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAA		0.358	ASF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361910.1	NM_014034		33	50	1	0	3.99451e-17	1	5.34789e-17	33	50					T	119226904	G	T	119226904	4	4	48	1	0	0	0	0	0	1	0	0	1037	943	33	2	210	2	ASF1A	6	119226904	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	670206	119226904	51888163	1818	6286										
FAM184A	79632	broad.mit.edu	37	chr6	119301348	119301348	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccatagtttgaaatgcaagGacatgtgcttcttttaatga	8	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:119301348G>A	ENST00000338891.7	-	10	2699	c.2256C>T	c.(2254-2256)gtC>gtT	p.V752V	FAM184A_ENST00000368475.4_Silent_p.V632V|FAM184A_ENST00000521531.1_Silent_p.V752V|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Silent_p.V632V	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	752						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						GAAATGCAAGGACATGTGCTT	0.388																																						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.(2254-2256)gtC>gtT		family with sequence similarity 184, member A							153	143	146					6																	119301348		1890	4113	6003	SO:0001819	synonymous_variant	79632							g.chr6:119301348G>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.2256C>T	6.37:g.119301348G>A			Somatic				FAM184A_ENST00000521531.1_Silent_p.V752V|FAM184A_ENST00000368475.4_Silent_p.V632V|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Silent_p.V632V	p.V752V	NM_024581.4	NP_078857.5	WXS	Illumina GAIIx	Phase_I	Q8NB25	F184A_HUMAN			10	2699	-			752					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Silent	SNP	ENST00000338891.7	37	c.2256C>T	CCDS43499.1																																																																																				0.388	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		15	40	0	0	0	1	0	15	40					A	119301348	G	A	119301348	2	1	48	1	0	0	0	0	0	0	0	1	5516	1161	41	3		3	FAM184A	6	119301348	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	74444	119301348	51813719	1819	6287										
C6orf170	221322	broad.mit.edu	37	chr6	121577399	121577399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttcatcgagaagttttttcGaaaactgggcaattatatga	8	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:121577399G>A	ENST00000398212.2	-	16	1815	c.1766C>T	c.(1765-1767)tCg>tTg	p.S589L	TBC1D32_ENST00000275159.6_Missense_Mutation_p.S589L	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	589					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)										AAGTTTTTTCGAAAACTGGGC	0.338																																						ENST00000275159.6																			0											c.(1765-1767)tCg>tTg		TBC1 domain family, member 32							44	39	41					6																	121577399		1803	4080	5883	SO:0001583	missense	221322							g.chr6:121577399G>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.1766C>T	6.37:g.121577399G>A	ENSP00000381270:p.Ser589Leu		Somatic				TBC1D32_ENST00000398212.2_Missense_Mutation_p.S589L	p.S589L			WXS	Illumina GAIIx	Phase_I					16	1765	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.1766C>T	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068718	0.55539	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.20200	2.09;2.09	5.21	5.21	0.72293	.	0.141503	0.45606	D	0.000358	T	0.10294	0.0252	L	0.35723	1.085	0.39253	D	0.964061	B;B	0.17268	0.002;0.021	B;B	0.09377	0.003;0.004	T	0.05989	-1.0852	10	0.27082	T	0.32	-20.1922	19.1152	0.93336	0.0:0.0:1.0:0.0	.	589;589	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	L	589	ENSP00000275159:S589L;ENSP00000381270:S589L	ENSP00000275159:S589L	S	-	2	0	C6orf170	121619098	1.000000	0.71417	0.941000	0.38009	0.862000	0.49288	4.221000	0.58574	2.575000	0.86900	0.655000	0.94253	TCG		0.338	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		11	16	0	0	0	1	0	11	16					A	121577399	G	A	121577399	3	1	48	1	0	0	0	0	1	0	0	0	2346	1059	37	1	2075	1	C6orf170	6	121577399	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2276051	121577399	49537668	1820	6288										
GJA1	2697	broad.mit.edu	37	chr6	121768608	121768608	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcctctctcgccccacggaGaaaaccatcttcatcatctt	4	16	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:121768608G>T	ENST00000282561.3	+	2	772	c.615G>T	c.(613-615)gaG>gaT	p.E205D		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	205					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GCCCCACGGAGAAAACCATCT	0.473																																						ENST00000282561.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33						c.(613-615)gaG>gaT		gap junction protein, alpha 1, 43kDa	Carvedilol(DB01136)						151	147	148					6																	121768608		2203	4300	6503	SO:0001583	missense	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768608G>T	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"Ion channels / Gap junction proteins (connexins)"	4274	protein-coding gene	gene with protein product	"oculodentodigital dysplasia (syndactyly type III)", "connexin 43"	121014	"gap junction protein, alpha-like", "gap junction protein, alpha 1, 43kDa (connexin 43)"	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.615G>T	6.37:g.121768608G>T	ENSP00000282561:p.Glu205Asp		Somatic					p.E205D	NM_000165.3	NP_000156.1	WXS	Illumina GAIIx	Phase_I	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	772	+			205					B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.615G>T	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866825	0.72065	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.99186	-5.53	5.81	4.94	0.65067	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.99548	0.9838	H	0.97611	4.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97812	1.0251	10	0.87932	D	0	.	14.8123	0.70006	0.0692:0.0:0.9308:0.0	.	205	P17302	CXA1_HUMAN	D	189;205	ENSP00000282561:E205D	ENSP00000282561:E205D	E	+	3	2	GJA1	121810307	1.000000	0.71417	0.999000	0.59377	0.777000	0.43975	3.463000	0.53050	1.463000	0.47967	0.460000	0.39030	GAG		0.473	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		32	65	1	0	2.81731e-10	1	3.44686e-10	32	65					T	121768608	G	T	121768608	3	4	48	1	0	0	0	0	1	0	0	0	6408	933	33	2	617	2	GJA1	6	121768608	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	191209	121768608	49346459	1821	6289										
SERINC1	57515	broad.mit.edu	37	chr6	122774932	122774932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacctgcataccaacatctcGagttcccttcttccattttt	3	14	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:122774932G>A	ENST00000339697.4	-	5	656	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	191					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)		CCAACATCTCGAGTTCCCTTC	0.388																																						ENST00000368454.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13						c.(571-573)tCg>tTg		serine incorporator 1							153	133	140					6																	122774932		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.chr6:122774932G>A	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.572C>T	6.37:g.122774932G>A	ENSP00000342962:p.Ser191Leu		Somatic				SERINC1_ENST00000339697.3_Missense_Mutation_p.S191L	p.S191L			WXS	Illumina GAIIx	Phase_I	Q9NRX5	SERC1_HUMAN		GBM - Glioblastoma multiforme(226;0.126)	7	901	-			191					B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	c.572C>T	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083058	0.94050	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.21361	2.01;2.01	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	M	0.69358	2.11	0.80722	D	1	P	0.41420	0.749	B	0.34652	0.187	T	0.07102	-1.0790	10	0.72032	D	0.01	-13.2021	19.2537	0.93935	0.0:0.0:1.0:0.0	.	191	Q9NRX5	SERC1_HUMAN	L	191	ENSP00000342962:S191L;ENSP00000357439:S191L	ENSP00000342962:S191L	S	-	2	0	SERINC1	122816631	1.000000	0.71417	0.986000	0.45419	0.933000	0.57130	9.869000	0.99810	2.565000	0.86533	0.655000	0.94253	TCG		0.388	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		9	54	0	0	0	1	0	9	54					A	122774932	G	A	122774932	3	1	48	1	0	0	0	0	1	0	0	0	14094	1059	37	1	813	1	SERINC1	6	122774932	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1006324	122774932	48340135	1822	6290										
NCOA7	135112	broad.mit.edu	37	chr6	126242114	126242114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cactgttgaagaggcaaagcGcaggaagagcacatgcagct	13	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:126242114G>A	ENST00000368357.3	+	13	2622	c.2270G>A	c.(2269-2271)cGc>cAc	p.R757H	NCOA7_ENST00000392477.2_Missense_Mutation_p.R757H|NCOA7_ENST00000229634.9_Missense_Mutation_p.R642H	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	757					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GAGGCAAAGCGCAGGAAGAGC	0.453																																						ENST00000368357.3																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39						c.(2269-2271)cGc>cAc		nuclear receptor coactivator 7							81	72	75					6																	126242114		2203	4300	6503	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126242114G>A	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 4"	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2270G>A	6.37:g.126242114G>A	ENSP00000357341:p.Arg757His		Somatic				NCOA7_ENST00000229634.9_Missense_Mutation_p.R642H|NCOA7_ENST00000392477.2_Missense_Mutation_p.R757H	p.R757H	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	WXS	Illumina GAIIx	Phase_I	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	13	2622	+			757					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.2270G>A	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	G	35	5.458498	0.96240	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000433571;ENST00000368353	T;T;T;T	0.34859	2.43;2.43;2.45;1.34	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.53802	0.1819	L	0.61036	1.89	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.945;0.999;0.998	T	0.43228	-0.9404	10	0.45353	T	0.12	-5.5609	20.5752	0.99366	0.0:0.0:1.0:0.0	.	746;51;746;757	B3KXK4;Q5JVL0;Q8NI08-2;Q8NI08	.;.;.;NCOA7_HUMAN	H	757;757;642;67;67	ENSP00000357341:R757H;ENSP00000376269:R757H;ENSP00000229634:R642H;ENSP00000411002:R67H	ENSP00000229634:R642H	R	+	2	0	NCOA7	126283807	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.330000	0.96422	2.868000	0.98415	0.557000	0.71058	CGC		0.453	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		28	48	0	0	0	1	0	28	48					A	126242114	G	A	126242114	3	1	48	1	0	0	0	0	1	0	0	0	10243	1087	38	1	2312	1	NCOA7	6	126242114	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3467182	126242114	44872953	1823	6291										
TRMT11	60487	broad.mit.edu	37	chr6	126314910	126314910	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attttcaatacaggaaataaAgtctttgcttttgctttttg	6	5	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:126314910A>G	ENST00000334379.5	+	2	201	c.80A>G	c.(79-81)aAg>aGg	p.K27R	TRMT11_ENST00000368332.3_Missense_Mutation_p.K27R|TRMT11_ENST00000450358.1_Missense_Mutation_p.K27R|TRMT11_ENST00000489934.1_Intron	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	27					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		CAGGAAATAAAGTCTTTGCTT	0.299																																						ENST00000334379.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(79-81)aAg>aGg		tRNA methyltransferase 11 homolog (S. cerevisiae)							60	63	62					6																	126314910		2203	4296	6499	SO:0001583	missense	60487				tRNA processing		methyltransferase activity|nucleic acid binding	g.chr6:126314910A>G	AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 75"	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.80A>G	6.37:g.126314910A>G	ENSP00000333934:p.Lys27Arg		Somatic				TRMT11_ENST00000450358.1_Missense_Mutation_p.K27R|TRMT11_ENST00000368332.3_Missense_Mutation_p.K27R|TRMT11_ENST00000489934.1_Intron	p.K27R	NM_001031712.2	NP_001026882.2	WXS	Illumina GAIIx	Phase_I	Q7Z4G4	TRM11_HUMAN		GBM - Glioblastoma multiforme(226;0.0356)	2	201	+			27					E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	ENST00000334379.5	37	c.80A>G	CCDS35496.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852921	0.32699	.	.	ENSG00000066651	ENST00000334379;ENST00000450358;ENST00000368332	T;T;T	0.44083	0.93;0.93;0.93	4.82	3.63	0.41609	.	0.207239	0.47852	D	0.000213	T	0.19725	0.0474	L	0.56769	1.78	0.35587	D	0.806755	B;B	0.27559	0.003;0.181	B;B	0.20767	0.006;0.031	T	0.03993	-1.0986	10	0.25751	T	0.34	-10.7142	11.7623	0.51910	0.7043:0.2957:0.0:0.0	.	27;27	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	R	27	ENSP00000333934:K27R;ENSP00000405140:K27R;ENSP00000357316:K27R	ENSP00000333934:K27R	K	+	2	0	TRMT11	126356603	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.128000	0.50492	0.742000	0.32697	0.383000	0.25322	AAG		0.299	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820		14	17	0	0	0	1	0	14	17					G	126314910	A	G	126314910	3	3	48	1	0	0	0	0	1	0	0	0	16577	72	3	4	86	4	TRMT11	6	126314910	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	72796	126314910	44800157	1824	6292										
RNF146	81847	broad.mit.edu	37	chr6	127608732	127608732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaccagacagtacccgatcGatcagatcgatcgggaactg	10	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:127608732G>A	ENST00000368314.1	+	3	1398	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000610153.1_Missense_Mutation_p.R325Q|RNF146_ENST00000309649.3_Missense_Mutation_p.R324Q|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000608991.1_Missense_Mutation_p.R324Q	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	325					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GTACCCGATCGATCAGATCGA	0.488																																						ENST00000368314.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10						c.(973-975)cGa>cAa		ring finger protein 146							84	82	83					6																	127608732		2203	4300	6503	SO:0001583	missense	81847				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:127608732G>A	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"RING-type (C3HC4) zinc fingers"	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.974G>A	6.37:g.127608732G>A	ENSP00000357297:p.Arg325Gln		Somatic				RNF146_ENST00000356799.2_Missense_Mutation_p.R324Q|RNF146_ENST00000309649.3_Missense_Mutation_p.R324Q	p.R325Q	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	WXS	Illumina GAIIx	Phase_I	Q9NTX7	RN146_HUMAN		GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)	3	1398	+			325					E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	ENST00000368314.1	37	c.974G>A	CCDS56449.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.465867	0.26335	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.21932	1.98;1.98;1.98	4.28	2.44	0.29823	.	0.849862	0.09622	N	0.777458	T	0.03390	0.0098	N	0.08118	0	0.22601	N	0.998946	B	0.02656	0.0	B	0.01281	0.0	T	0.45425	-0.9262	10	0.30078	T	0.28	-1.7968	9.2729	0.37681	0.1684:0.0:0.8316:0.0	.	325	Q9NTX7	RN146_HUMAN	Q	325;324;324	ENSP00000357297:R325Q;ENSP00000349253:R324Q;ENSP00000309365:R324Q	ENSP00000309365:R324Q	R	+	2	0	RNF146	127650425	0.010000	0.17322	0.129000	0.21949	0.078000	0.17371	-0.280000	0.08468	0.551000	0.29008	0.585000	0.79938	CGA		0.488	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963		19	47	0	0	0	1	0	19	47					A	127608732	G	A	127608732	3	1	48	1	0	0	0	0	1	0	0	0	13463	1058	37	1	973	1	RNF146	6	127608732	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1293822	127608732	43506335	1825	6293										
THEMIS	387357	broad.mit.edu	37	chr6	128134152	128134152	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgaggctgagctttcatatCtccgcatcatgtaatattgc	9	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:128134152C>A	ENST00000368248.2	-	4	1782	c.1634G>T	c.(1633-1635)aGa>aTa	p.R545I	THEMIS_ENST00000537166.1_Missense_Mutation_p.R510I|THEMIS_ENST00000543064.1_Missense_Mutation_p.R545I|THEMIS_ENST00000368250.1_Missense_Mutation_p.R466I	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	545					negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCTTTCATATCTCCGCATCAT	0.458																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(1396-1398)aGa>aTa		thymocyte selection associated							106	106	106					6																	128134152		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134152C>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.1634G>T	6.37:g.128134152C>A	ENSP00000357231:p.Arg545Ile		Somatic				THEMIS_ENST00000368248.2_Missense_Mutation_p.R545I|THEMIS_ENST00000537166.1_Missense_Mutation_p.R510I|THEMIS_ENST00000543064.1_Missense_Mutation_p.R545I	p.R466I			WXS	Illumina GAIIx	Phase_I	Q8N1K5	THMS1_HUMAN			5	1895	-			545			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1397G>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768789	0.69878	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.20200	2.09;2.11;2.09;2.09	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.98	T	0.07462	-1.0771	10	0.87932	D	0	-20.9919	14.4261	0.67218	0.0:0.93:0.0:0.07	.	545;545	F5H1J9;Q8N1K5	.;THMS1_HUMAN	I	466;545;545;510	ENSP00000357233:R466I;ENSP00000439594:R545I;ENSP00000357231:R545I;ENSP00000439863:R510I	ENSP00000357231:R545I	R	-	2	0	THEMIS	128175845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.588000	0.60999	2.793000	0.96121	0.563000	0.77884	AGA		0.458	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		38	57	1	0	1.42033e-22	1	1.97588e-22	38	57					A	128134152	C	A	128134152	3	1	48	1	0	0	0	0	1	0	0	0	15875	913	32	2	424	2	THEMIS	6	128134152	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	525420	128134152	42980915	1826	6294										
LAMA2	3908	broad.mit.edu	37	chr6	129637245	129637245	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgtgacccgagaagacttCttggatatactatatgatat	8	7	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:129637245C>A	ENST00000421865.2	+	27	4036	c.3987C>A	c.(3985-3987)ttC>ttA	p.F1329L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1329	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGAAGACTTCTTGGATATAC	0.338																																						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.(3985-3987)ttC>ttA		laminin, alpha 2							83	89	87					6																	129637245		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.chr6:129637245C>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.3987C>A	6.37:g.129637245C>A	ENSP00000400365:p.Phe1329Leu		Somatic					p.F1329L	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	WXS	Illumina GAIIx	Phase_I	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	27	4036	+			1329			Laminin IV type A 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3987C>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462217	0.84425	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.30714	1.52	5.39	5.39	0.77823	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.33990	0.0882	L	0.32530	0.975	0.54753	D	0.999988	D;D	0.89917	0.975;1.0	D;D	0.83275	0.927;0.996	T	0.02104	-1.1213	10	0.15499	T	0.54	.	19.5159	0.95165	0.0:1.0:0.0:0.0	.	1329;1329	A6NF00;P24043	.;LAMA2_HUMAN	L	1329	ENSP00000400365:F1329L	ENSP00000346769:F1329L	F	+	3	2	LAMA2	129678938	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.815000	0.48018	2.680000	0.91292	0.650000	0.86243	TTC		0.338	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			19	41	1	0	2.94398e-08	1	3.45884e-08	19	41					A	129637245	C	A	129637245	3	1	48	1	0	0	0	0	1	0	0	0	8615	912	32	2	4093	2	LAMA2	6	129637245	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1503093	129637245	41477822	1827	6295										
L3MBTL3	84456	broad.mit.edu	37	chr6	130413911	130413911	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcactttgatggctggaacAattgctatgattactggata	9	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:130413911A>G	ENST00000529410.1	+	19	2019	c.1540A>G	c.(1540-1542)Aat>Gat	p.N514D	L3MBTL3_ENST00000368136.2_Missense_Mutation_p.N514D|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.N514D|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.N489D|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.N489D|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.N489D			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	514					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TGGCTGGAACAATTGCTATGA	0.423																																						ENST00000529410.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43						c.(1540-1542)Aat>Gat		l(3)mbt-like 3 (Drosophila)							163	148	153					6																	130413911		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130413911A>G	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.1540A>G	6.37:g.130413911A>G	ENSP00000431962:p.Asn514Asp		Somatic				L3MBTL3_ENST00000533560.1_Missense_Mutation_p.N489D|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.N489D|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.N514D|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.N514D|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.N489D	p.N514D			WXS	Illumina GAIIx	Phase_I	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	19	2019	+			514					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.1540A>G	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	A	7.585	0.669537	0.14776	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	5.42	4.27	0.50696	.	0.456909	0.26808	N	0.022397	T	0.04003	0.0112	N	0.02169	-0.655	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42413	-0.9453	10	0.08179	T	0.78	.	5.7532	0.18158	0.7709:0.0:0.0807:0.1484	.	489;514	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	D	514;489;514;489;489;514	ENSP00000431962:N514D;ENSP00000437185:N489D;ENSP00000354526:N514D;ENSP00000357121:N489D;ENSP00000436706:N489D;ENSP00000357118:N514D	ENSP00000354526:N514D	N	+	1	0	L3MBTL3	130455604	0.002000	0.14202	0.810000	0.32431	0.755000	0.42902	1.246000	0.32803	0.908000	0.36671	0.482000	0.46254	AAT		0.423	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		13	32	0	0	0	1	0	13	32					G	130413911	A	G	130413911	3	3	48	1	0	0	0	0	1	0	0	0	8602	130	5	4	1598	4	L3MBTL3	6	130413911	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	776666	130413911	40701156	1828	6296										
EPB41L2	2037	broad.mit.edu	37	chr6	131201347	131201347	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctactctcaaggaatttttCtgtgaaattaaatcacacac	4	9	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:131201347C>A	ENST00000337057.3	-	13	2015		c.e13-1		EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000530757.1_Splice_Site|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000368128.2_Splice_Site|EPB41L2_ENST00000531410.1_Splice_Site|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000524581.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2						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)		AGGAATTTTTCTGTGAAATTA	0.358																																						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.e13-1		erythrocyte membrane protein band 4.1-like 2							60	60	60					6																	131201347		2203	4300	6503	SO:0001630	splice_region_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131201347C>A	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.1834-1G>T	6.37:g.131201347C>A			Somatic				EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000524581.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000368128.2_Splice_Site|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000530757.1_Splice_Site|EPB41L2_ENST00000531410.1_Splice_Site|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000525271.1_Intron		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)	13	2015	-	Breast(56;0.0639)							B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Splice_Site	SNP	ENST00000337057.3	37		CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835561	0.71373	.	.	ENSG00000079819	ENST00000531410;ENST00000337057;ENST00000530757;ENST00000368128;ENST00000527423;ENST00000456097	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2033	0.98269	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPB41L2	131243040	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.695000	0.47043	2.779000	0.95612	0.655000	0.94253	.		0.358	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3		Intron	8	10	1	0	0.27861	1	0.279356	8	10					A	131201347	C	A	131201347	5	1	48	1	0	0	0	0	0	0	1	0	5155	927	32	2	1212	2	EPB41L2	6	131201347	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	787436	131201347	39913720	1829	6297										
ARG1	383	broad.mit.edu	37	chr6	131904520	131904520	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaggccaattcatctaagtTttgatgttgacggactggac	10	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:131904520T>G	ENST00000368087.3	+	7	830	c.691T>G	c.(691-693)Ttt>Gtt	p.F231V	MED23_ENST00000354577.4_Intron|ARG1_ENST00000356962.2_Missense_Mutation_p.F239V			P05089	ARGI1_HUMAN	arginase 1	231					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	TCATCTAAGTTTTGATGTTGA	0.403																																						ENST00000368087.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14						c.(691-693)Ttt>Gtt		arginase 1	L-Ornithine(DB00129)						114	110	111					6																	131904520		2203	4300	6503	SO:0001583	missense	383				arginine catabolic process|urea cycle	cytosol	arginase activity	g.chr6:131904520T>G		CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"arginase, liver"			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.691T>G	6.37:g.131904520T>G	ENSP00000357066:p.Phe231Val		Somatic				MED23_ENST00000354577.4_Intron|ARG1_ENST00000476845.1_Intron|ARG1_ENST00000356962.2_Missense_Mutation_p.F239V	p.F231V			WXS	Illumina GAIIx	Phase_I	P05089	ARGI1_HUMAN		GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	7	830	+	Breast(56;0.0753)		231					A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Missense_Mutation	SNP	ENST00000368087.3	37	c.691T>G	CCDS5145.1	.	.	.	.	.	.	.	.	.	.	T	33	5.222735	0.95139	.	.	ENSG00000118520	ENST00000368087;ENST00000356962	D;D	0.85411	-1.98;-1.98	6.02	6.02	0.97574	Ureohydrolase domain (1);	0.252260	0.45867	D	0.000327	D	0.90865	0.7130	M	0.80422	2.495	0.80722	D	1	D;D	0.63046	0.989;0.992	D;D	0.71184	0.971;0.972	D	0.92233	0.5794	10	0.87932	D	0	-10.3573	14.4967	0.67694	0.0:0.0:0.0:1.0	.	239;231	P05089-2;P05089	.;ARGI1_HUMAN	V	231;239	ENSP00000357066:F231V;ENSP00000349446:F239V	ENSP00000349446:F239V	F	+	1	0	ARG1	131946213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.803000	0.69129	2.311000	0.77944	0.533000	0.62120	TTT		0.403	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042223.1			32	67	0	0	0	1	0	32	67					G	131904520	T	G	131904520	3	3	48	1	0	0	0	0	1	0	0	0	857	1841	64	4	717	4	ARG1	6	131904520	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	703173	131904520	39210547	1830	6298										
ENPP3	5169	broad.mit.edu	37	chr6	132006568	132006568	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattttcccagaataaacttCttctacatgtacgaagggcc	6	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:132006568C>A	ENST00000414305.1	+	14	1513	c.1185C>A	c.(1183-1185)ttC>ttA	p.F395L	ENPP3_ENST00000358229.5_Missense_Mutation_p.F395L|ENPP3_ENST00000357639.3_Missense_Mutation_p.F395L			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	395	Phosphodiesterase.				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)		GAATAAACTTCTTCTACATGT	0.363																																						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.(1183-1185)ttC>ttA		ectonucleotide pyrophosphatase/phosphodiesterase 3							134	150	145					6																	132006568		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.chr6:132006568C>A	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1185C>A	6.37:g.132006568C>A	ENSP00000406261:p.Phe395Leu		Somatic				ENPP3_ENST00000357639.3_Missense_Mutation_p.F395L|ENPP3_ENST00000358229.5_Missense_Mutation_p.F395L	p.F395L			WXS	Illumina GAIIx	Phase_I	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	14	1513	+	Breast(56;0.0753)		395			Phosphodiesterase.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.1185C>A	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115421	0.37339	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.70869	-0.52;-0.52;-0.52	5.69	3.9	0.45041	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.22003	0.0530	N	0.01168	-0.975	0.80722	D	1	B	0.06786	0.001	B	0.14023	0.01	T	0.16335	-1.0406	10	0.52906	T	0.07	-18.524	6.432	0.21803	0.0:0.6817:0.0:0.3183	.	395	O14638	ENPP3_HUMAN	L	395	ENSP00000406261:F395L;ENSP00000350265:F395L;ENSP00000350964:F395L	ENSP00000350265:F395L	F	+	3	2	ENPP3	132048261	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.036000	0.41165	1.422000	0.47177	0.591000	0.81541	TTC		0.363	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			45	95	1	0	8.86878e-18	1	1.19361e-17	45	95					A	132006568	C	A	132006568	3	1	48	1	0	0	0	0	1	0	0	0	5133	912	32	2	1235	2	ENPP3	6	132006568	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	102048	132006568	39108499	1831	6299										
CTAGE9	643854	broad.mit.edu	37	chr6	132030936	132030936	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcttcttcctctattcggtAattttcctccactgttaatt	3	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:132030936A>C	ENST00000314099.8	-	1	1270	c.1222T>G	c.(1222-1224)Tac>Gac	p.Y408D	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	408						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						TCTATTCGGTAATTTTCCTCC	0.368																																						ENST00000314099.8																			0				endometrium(1)|lung(1)	2						c.(1222-1224)Tac>Gac		CTAGE family, member 9							13	16	15					6																	132030936		691	1576	2267	SO:0001583	missense	643854					integral to membrane		g.chr6:132030936A>C		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.1222T>G	6.37:g.132030936A>C	ENSP00000395587:p.Tyr408Asp		Somatic				ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron	p.Y408D	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	WXS	Illumina GAIIx	Phase_I	A4FU28	CTGE9_HUMAN			1	1270	-			408						Missense_Mutation	SNP	ENST00000314099.8	37	c.1222T>G	CCDS47475.1	.	.	.	.	.	.	.	.	.	.	-	0.070	-1.203458	0.01581	.	.	ENSG00000236761	ENST00000314099	T	0.37584	1.19	.	.	.	.	.	.	.	.	T	0.11196	0.0273	L	0.48986	1.54	0.24311	N	0.995082	B	0.06786	0.001	B	0.10450	0.005	T	0.31806	-0.9930	8	0.33940	T	0.23	.	4.4758	0.11739	0.9992:0.0:8.0E-4:0.0	.	408	A4FU28	CTGE9_HUMAN	D	408	ENSP00000395587:Y408D	ENSP00000395587:Y408D	Y	-	1	0	CTAGE9	132072629	0.999000	0.42202	0.000000	0.03702	0.000000	0.00434	1.324000	0.33712	-0.000000	0.14550	0.000000	0.15137	TAC		0.368	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109220.1	NM_001145659		15	30	0	0	0	1	0	15	30					C	132030936	A	C	132030936	3	2	48	1	0	0	0	0	1	0	0	0	3998	362	13	4	1115	4	CTAGE9	6	132030936	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	24368	132030936	39084131	1832	6300										
TAAR9	134860	broad.mit.edu	37	chr6	132860038	132860038	+	RNA	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgggtcctactttgttttCttctattctttatacccaat	4	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:132860038C>A	ENST00000434551.1	+	0	610					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		ACTTTGTTTTCTTCTATTCTT	0.438																																					Colon(10;433 445 15992 45047 47213)	ENST00000434551.1																			0													trace amine associated receptor 9 (gene/pseudogene)							116	112	113					6																	132860038		1849	4098	5947			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132860038C>A	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"GPCR / Class A : Trace amine associated receptors"	20977	protein-coding gene	gene with protein product		608282	"trace amine receptor 3", "trace amine associated receptor 9"	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132860038C>A			Somatic						NM_175057.3	NP_778227.3	WXS	Illumina GAIIx	Phase_I	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	0	610	+	Breast(56;0.112)								RNA	SNP	ENST00000434551.1	37																																																																																						0.438	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		38	49	1	0	2.1956e-27	1	3.11292e-27	38	49					A	132860038	C	A	132860038	1	1	48	0	1	0	0	0	0	0	0	0	15509	913	32	2		2	TAAR9	6	132860038	RNA	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	829102	132860038	38255029	1833	6301										
SGK1	6446	broad.mit.edu	37	chr6	134638579	134638579	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atttcttgactgggaatccaTtcatgtctttgtttaccatt	6	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:134638579T>C	ENST00000367858.5	-	1	617	c.20A>G	c.(19-21)aAt>aGt	p.N7S	SGK1_ENST00000524929.1_Missense_Mutation_p.N7S	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Necessary for localization to the mitochondria.				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)		TGGGAATCCATTCATGTCTTT	0.423																																						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.(19-21)aAt>aGt		serum/glucocorticoid regulated kinase 1							185	168	173					6																	134638579		1568	3582	5150	SO:0001583	missense	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134638579T>C	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	ENST00000367858.5:c.20A>G	6.37:g.134638579T>C	ENSP00000356832:p.Asn7Ser		Somatic				SGK1_ENST00000524929.1_Missense_Mutation_p.N7S	p.N7S	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)	1	617	-	Colorectal(23;0.221)		0			Necessary for localization to the cytoplasm.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000367858.5	37	c.20A>G	CCDS47476.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923644	0.73213	.	.	ENSG00000118515	ENST00000367858;ENST00000524929;ENST00000533224	T	0.74421	-0.84	5.26	5.26	0.73747	.	0.000000	0.40222	N	0.001153	D	0.82829	0.5122	.	.	.	0.33529	D	0.593348	D;D	0.89917	1.0;0.974	D;D	0.85130	0.997;0.953	D	0.86065	0.1534	9	0.87932	D	0	.	15.1662	0.72828	0.0:0.0:0.0:1.0	.	7;7	Q7Z3I4;O00141-2	.;.	S	7	ENSP00000356832:N7S	ENSP00000356832:N7S	N	-	2	0	SGK1	134680272	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.505000	0.66981	1.995000	0.58328	0.482000	0.46254	AAT		0.423	SGK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042304.2			45	108	0	0	0	1	0	45	108					C	134638579	T	C	134638579	3	2	48	1	0	0	0	0	1	0	0	0	14222	1493	52	4	1982	4	SGK1	6	134638579	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1778541	134638579	36476488	1834	6302										
ALDH8A1	64577	broad.mit.edu	37	chr6	135271107	135271107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacttcccctgttgatgggtCgtaagaatctatatatgagc	9	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:135271107C>T	ENST00000265605.2	-	1	153	c.85G>A	c.(85-87)Gac>Aac	p.D29N	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.D29N|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.D29N	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	29					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GTTGATGGGTCGTAAGAATCT	0.373																																						ENST00000265605.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36						c.(85-87)Gac>Aac		aldehyde dehydrogenase 8 family, member A1							128	123	124					6																	135271107		2203	4300	6503	SO:0001583	missense	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135271107C>T	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.85G>A	6.37:g.135271107C>T	ENSP00000265605:p.Asp29Asn		Somatic				ALDH8A1_ENST00000367845.2_Missense_Mutation_p.D29N|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.D29N	p.D29N	NM_022568.3	NP_072090.1	WXS	Illumina GAIIx	Phase_I	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	1	153	-	Colorectal(23;0.221)		29					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	c.85G>A	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	C	8.591	0.884645	0.17467	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.26067	1.76;1.76;1.76	6.14	6.14	0.99180	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.045918	0.85682	D	0.000000	T	0.02929	0.0087	N	0.02181	-0.65	0.51767	D	0.999934	B;B;B	0.16166	0.016;0.013;0.016	B;B;B	0.16289	0.015;0.009;0.015	T	0.39354	-0.9618	10	0.02654	T	1	.	11.1044	0.48194	0.0:0.8628:0.0:0.1372	.	29;29;29	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	N	29	ENSP00000265605:D29N;ENSP00000356819:D29N;ENSP00000356821:D29N	ENSP00000265605:D29N	D	-	1	0	ALDH8A1	135312800	1.000000	0.71417	0.996000	0.52242	0.918000	0.54935	4.658000	0.61497	2.937000	0.99478	0.650000	0.86243	GAC		0.373	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			18	40	0	0	0	1	0	18	40					T	135271107	C	T	135271107	3	4	48	1	0	0	0	0	1	0	0	0	505	884	31	1	1406	1	ALDH8A1	6	135271107	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	632528	135271107	35843960	1835	6303										
BCLAF1	9774	broad.mit.edu	37	chr6	136590607	136590607	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taagatttgtattccttgtaAtcttttggagttttttcctg	7	5	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136590607A>C	ENST00000531224.1	-	9	2439	c.2187T>G	c.(2185-2187)gaT>gaG	p.D729E	BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D727E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D727E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D729E|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D556E|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D727E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	729					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)		ATTCCTTGTAATCTTTTGGAG	0.363																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2185-2187)gaT>gaG		BCL2-associated transcription factor 1							110	105	106					6																	136590607		2203	4299	6502	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136590607A>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2187T>G	6.37:g.136590607A>C	ENSP00000435210:p.Asp729Glu		Somatic				BCLAF1_ENST00000353331.4_Missense_Mutation_p.D727E|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D556E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D727E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D729E|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D727E|BCLAF1_ENST00000529917.1_5'UTR	p.D729E	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)	9	2439	-	Colorectal(23;0.24)		729					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2187T>G	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.852|5.852	0.341427|0.341427	0.11069|0.11069	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348|ENST00000534762	T;T;T;T;T;T|.	0.12879|.	2.64;2.64;2.64;2.64;2.64;2.64|.	4.86|4.86	3.68|3.68	0.42216|0.42216	.|.	0.211460|.	0.32503|.	N|.	0.006007|.	T|T	0.16727|0.16727	0.0402|0.0402	N|N	0.11313|0.11313	0.125|0.125	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.25772|.	0.071;0.134;0.071;0.106|.	B;B;B;B|.	0.25291|.	0.032;0.059;0.032;0.027|.	T|T	0.05007|0.05007	-1.0912|-1.0912	10|5	0.22109|.	T|.	0.4|.	-3.0094|-3.0094	7.3315|7.3315	0.26586|0.26586	0.7056:0.1505:0.0:0.1439|0.7056:0.1505:0.0:0.1439	.|.	727;727;729;556|.	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4|.	.;.;BCLF1_HUMAN;.|.	E|V	729;727;729;556;727;727|18	ENSP00000435210:D729E;ENSP00000229446:D727E;ENSP00000435441:D729E;ENSP00000436501:D556E;ENSP00000434826:D727E;ENSP00000376159:D727E|.	ENSP00000229446:D727E|.	D|L	-|-	3|1	2|2	BCLAF1|BCLAF1	136632300|136632300	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.080000|3.080000	0.50112|0.50112	0.797000|0.797000	0.33971|0.33971	0.482000|0.482000	0.46254|0.46254	GAT|TTA		0.363	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		4	69	0	0	0	1	0	4	69					C	136590607	A	C	136590607	3	2	48	1	0	0	0	0	1	0	0	0	1383	98	4	4	595	4	BCLAF1	6	136590607	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1319500	136590607	34524460	1836	6304										
BCLAF1	9774	broad.mit.edu	37	chr6	136597112	136597112	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttctcgtgcatccagattCttgtgtagagggggactgta	12	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136597112C>A	ENST00000531224.1	-	5	1803	c.1551G>T	c.(1549-1551)aaG>aaT	p.K517N	BCLAF1_ENST00000527759.1_Missense_Mutation_p.K515N|BCLAF1_ENST00000392348.2_Missense_Mutation_p.K515N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K517N|BCLAF1_ENST00000530767.1_Missense_Mutation_p.K344N|BCLAF1_ENST00000353331.4_Missense_Mutation_p.K515N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	517					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)		CATCCAGATTCTTGTGTAGAG	0.413																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1549-1551)aaG>aaT		BCL2-associated transcription factor 1							208	216	214					6																	136597112		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597112C>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.1551G>T	6.37:g.136597112C>A	ENSP00000435210:p.Lys517Asn		Somatic				BCLAF1_ENST00000353331.4_Missense_Mutation_p.K515N|BCLAF1_ENST00000530767.1_Missense_Mutation_p.K344N|BCLAF1_ENST00000392348.2_Missense_Mutation_p.K515N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K517N|BCLAF1_ENST00000527759.1_Missense_Mutation_p.K515N	p.K517N	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	1803	-	Colorectal(23;0.24)		517					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1551G>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375345	0.24857	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45;2.45	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000002	T	0.23846	0.0577	L	0.42245	1.32	0.80722	D	1	D;D;D;P	0.60575	0.988;0.985;0.988;0.879	D;P;D;B	0.71656	0.974;0.848;0.974;0.327	T	0.00455	-1.1729	10	0.87932	D	0	-8.6898	13.0226	0.58796	0.0:0.926:0.0:0.074	.	515;515;517;344	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	N	517;515;517;344;515;515;517	ENSP00000435210:K517N;ENSP00000229446:K515N;ENSP00000435441:K517N;ENSP00000436501:K344N;ENSP00000434826:K515N;ENSP00000376159:K515N;ENSP00000431734:K517N	ENSP00000229446:K515N	K	-	3	2	BCLAF1	136638805	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.044000	0.57361	2.743000	0.94032	0.454000	0.30748	AAG		0.413	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		12	153	1	0	1.3612e-06	1	1.53357e-06	12	153					A	136597112	C	A	136597112	3	1	48	1	0	0	0	0	1	0	0	0	1383	912	32	2	1247	2	BCLAF1	6	136597112	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	6505	136597112	34517955	1837	6305										
BCLAF1	9774	broad.mit.edu	37	chr6	136597215	136597215	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgttattctttcagaatttTtgtcttcttctttgtgctta	5	7	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136597215T>G	ENST00000531224.1	-	5	1700	c.1448A>C	c.(1447-1449)aAa>aCa	p.K483T	BCLAF1_ENST00000527759.1_Missense_Mutation_p.K481T|BCLAF1_ENST00000392348.2_Missense_Mutation_p.K481T|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K483T|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000353331.4_Missense_Mutation_p.K481T	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	483					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)		TTCAGAATTTTTGTCTTCTTC	0.358																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1447-1449)aAa>aCa		BCL2-associated transcription factor 1							148	156	153					6																	136597215		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597215T>G	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1448A>C	6.37:g.136597215T>G	ENSP00000435210:p.Lys483Thr		Somatic				BCLAF1_ENST00000353331.4_Missense_Mutation_p.K481T|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.K481T|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K483T|BCLAF1_ENST00000527759.1_Missense_Mutation_p.K481T	p.K483T	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	1700	-	Colorectal(23;0.24)		483					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1448A>C	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.028023	0.54790	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.13420	2.79;2.78;2.8;2.8;2.78;2.59	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000003	T	0.14485	0.0350	L	0.29908	0.895	0.80722	D	1	D;D;D	0.61080	0.989;0.989;0.989	D;D;D	0.70487	0.969;0.969;0.969	T	0.09185	-1.0686	10	0.27785	T	0.31	-14.533	14.2596	0.66076	0.0:0.0:0.0:1.0	.	481;481;483	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	T	483;481;483;481;481;483	ENSP00000435210:K483T;ENSP00000229446:K481T;ENSP00000435441:K483T;ENSP00000434826:K481T;ENSP00000376159:K481T;ENSP00000431734:K483T	ENSP00000229446:K481T	K	-	2	0	BCLAF1	136638908	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.162000	0.58177	2.174000	0.68829	0.451000	0.29950	AAA		0.358	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		4	80	0	0	0	1	0	4	80					G	136597215	T	G	136597215	3	3	48	1	0	0	0	0	1	0	0	0	1383	1841	64	4	1350	4	BCLAF1	6	136597215	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	103	136597215	34517852	1838	6306										
BCLAF1	9774	broad.mit.edu	37	chr6	136597398	136597398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgagatgcagtagcaaaaCttttaccctgatctgcgagg	12	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136597398C>T	ENST00000531224.1	-	5	1517	c.1265G>A	c.(1264-1266)aGt>aAt	p.S422N	BCLAF1_ENST00000527759.1_Missense_Mutation_p.S420N|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S420N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S422N|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S420N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	422					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)		AGTAGCAAAACTTTTACCCTG	0.418																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1264-1266)aGt>aAt		BCL2-associated transcription factor 1							251	244	246					6																	136597398		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597398C>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.1265G>A	6.37:g.136597398C>T	ENSP00000435210:p.Ser422Asn		Somatic				BCLAF1_ENST00000353331.4_Missense_Mutation_p.S420N|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S420N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S422N|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S420N	p.S422N	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	1517	-	Colorectal(23;0.24)		422					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1265G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	3.067	-0.191992	0.06299	.	.	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	5.25	1.12	0.20585	.	0.254375	0.34178	N	0.004190	T	0.01695	0.0054	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.43605	-0.9381	10	0.22109	T	0.4	-4.145	5.9033	0.18978	0.0:0.4228:0.1514:0.4258	.	420;420;422	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	N	422;420;422;420;420;422	ENSP00000435210:S422N;ENSP00000229446:S420N;ENSP00000435441:S422N;ENSP00000434826:S420N;ENSP00000376159:S420N;ENSP00000431734:S422N	ENSP00000229446:S420N	S	-	2	0	BCLAF1	136639091	0.997000	0.39634	0.999000	0.59377	0.998000	0.95712	0.577000	0.23758	0.009000	0.14813	0.650000	0.86243	AGT		0.418	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		40	207	0	0	0	1	0	40	207					T	136597398	C	T	136597398	3	4	48	1	0	0	0	0	1	0	0	0	1383	565	20	3	1533	3	BCLAF1	6	136597398	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	183	136597398	34517669	1839	6307										
BCLAF1	9774	broad.mit.edu	37	chr6	136599082	136599082	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaacggcccctagactcatCtcttggagcattctgtggtg	12	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136599082C>A	ENST00000531224.1	-	4	1189	c.937G>T	c.(937-939)Gat>Tat	p.D313Y	BCLAF1_ENST00000527759.1_Missense_Mutation_p.D311Y|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D311Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D313Y|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D313Y|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D311Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	313					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)		CTAGACTCATCTCTTGGAGCA	0.428																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(937-939)Gat>Tat		BCL2-associated transcription factor 1							89	87	88					6																	136599082		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599082C>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.937G>T	6.37:g.136599082C>A	ENSP00000435210:p.Asp313Tyr		Somatic				BCLAF1_ENST00000353331.4_Missense_Mutation_p.D311Y|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D313Y|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D311Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D313Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D311Y	p.D313Y	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	1189	-	Colorectal(23;0.24)		313					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.937G>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	9.760	1.169958	0.21621	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46;2.46	5.82	4.96	0.65561	.	0.509864	0.19927	N	0.102958	T	0.06096	0.0158	N	0.08118	0	0.80722	D	1	P;P;P;P	0.41848	0.471;0.763;0.471;0.471	B;B;B;B	0.42851	0.4;0.4;0.4;0.4	T	0.26950	-1.0088	10	0.62326	D	0.03	-3.5141	14.9191	0.70822	0.0:0.9313:0.0:0.0687	.	311;311;313;313	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	Y	313;311;313;313;311;311;313	ENSP00000435210:D313Y;ENSP00000229446:D311Y;ENSP00000435441:D313Y;ENSP00000436501:D313Y;ENSP00000434826:D311Y;ENSP00000376159:D311Y;ENSP00000431734:D313Y	ENSP00000229446:D311Y	D	-	1	0	BCLAF1	136640775	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.613000	0.67688	1.466000	0.48025	0.650000	0.86243	GAT		0.428	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		10	66	1	0	2.17888e-05	1	2.39107e-05	10	66					A	136599082	C	A	136599082	3	1	48	1	0	0	0	0	1	0	0	0	1383	913	32	2	1865	2	BCLAF1	6	136599082	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1684	136599082	34515985	1840	6308										
MAP7	9053	broad.mit.edu	37	chr6	136667149	136667149	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atccaatgggtaagtttataAtttcttcaaaattttcattc	4	6	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136667149A>C	ENST00000354570.3	-	17	2494	c.2084T>G	c.(2083-2085)aTt>aGt	p.I695S	MAP7_ENST00000544465.1_Missense_Mutation_p.I680S|MAP7_ENST00000438100.2_Missense_Mutation_p.I680S|MAP7_ENST00000454590.1_Missense_Mutation_p.I717S|MAP7_ENST00000432797.2_Missense_Mutation_p.I549S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	695					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TAAGTTTATAATTTCTTCAAA	0.323																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2083-2085)aTt>aGt		microtubule-associated protein 7							54	56	55					6																	136667149		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136667149A>C	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.2084T>G	6.37:g.136667149A>C	ENSP00000346581:p.Ile695Ser		Somatic				MAP7_ENST00000438100.2_Missense_Mutation_p.I680S|MAP7_ENST00000454590.1_Missense_Mutation_p.I717S|MAP7_ENST00000432797.2_Missense_Mutation_p.I549S|MAP7_ENST00000544465.1_Missense_Mutation_p.I680S	p.I695S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	WXS	Illumina GAIIx	Phase_I	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	17	2494	-	Colorectal(23;0.24)		695					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.2084T>G	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.783414	0.49891	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.05382	3.45;3.45;3.45;3.45;3.45	5.71	4.52	0.55395	.	0.336436	0.25481	N	0.030363	T	0.03959	0.0111	L	0.53249	1.67	0.29318	N	0.867528	P;P;P;P;P;P;P	0.43542	0.712;0.712;0.592;0.456;0.81;0.642;0.456	B;B;B;B;B;B;B	0.41917	0.142;0.19;0.14;0.091;0.275;0.37;0.066	T	0.10405	-1.0631	10	0.72032	D	0.01	-5.2462	12.836	0.57773	0.8635:0.1365:0.0:0.0	.	680;717;680;717;601;658;695	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	S	695;717;680;680;549;601	ENSP00000346581:I695S;ENSP00000414712:I717S;ENSP00000445737:I680S;ENSP00000400790:I680S;ENSP00000414879:I549S	ENSP00000344217:I601S	I	-	2	0	MAP7	136708842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.005000	0.63972	0.963000	0.38082	0.460000	0.39030	ATT		0.323	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		13	20	0	0	0	1	0	13	20					C	136667149	A	C	136667149	3	2	48	1	0	0	0	0	1	0	0	0	9275	101	4	4	173	4	MAP7	6	136667149	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	68067	136667149	34447918	1841	6309										
MAP7	9053	broad.mit.edu	37	chr6	136742892	136742892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgaaattgcagaggcagggCggctggaggcatttttctta	14	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136742892C>T	ENST00000354570.3	-	2	523	c.113G>A	c.(112-114)cGc>cAc	p.R38H	MAP7_ENST00000544465.1_Missense_Mutation_p.R23H|MAP7_ENST00000438100.2_Missense_Mutation_p.R60H|MAP7_ENST00000454590.1_Missense_Mutation_p.R60H|MAP7_ENST00000432797.2_5'UTR	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	38					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGAGGCAGGGCGGCTGGAGGC	0.373																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(112-114)cGc>cAc		microtubule-associated protein 7							140	139	139					6																	136742892		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136742892C>T	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.113G>A	6.37:g.136742892C>T	ENSP00000346581:p.Arg38His		Somatic				MAP7_ENST00000438100.2_Missense_Mutation_p.R60H|MAP7_ENST00000454590.1_Missense_Mutation_p.R60H|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Missense_Mutation_p.R23H	p.R38H	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	WXS	Illumina GAIIx	Phase_I	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	2	523	-	Colorectal(23;0.24)		38					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.113G>A	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216707	0.39201	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000345567	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	5.63	2.9	0.33743	.	0.466173	0.18543	N	0.138137	T	0.03011	0.0089	N	0.22421	0.69	0.58432	D	0.999999	B;B;B;B;B;B;B;B	0.24132	0.007;0.007;0.012;0.007;0.002;0.098;0.098;0.013	B;B;B;B;B;B;B;B	0.18871	0.003;0.003;0.008;0.003;0.002;0.023;0.023;0.003	T	0.30592	-0.9973	10	0.38643	T	0.18	-4.2447	6.8786	0.24160	0.0:0.7239:0.0:0.2761	.	60;60;23;60;60;38;38;38	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;.;MAP7_HUMAN	H	38;60;23;60;38	ENSP00000346581:R38H;ENSP00000414712:R60H;ENSP00000445737:R23H;ENSP00000400790:R60H	ENSP00000344217:R38H	R	-	2	0	MAP7	136784585	0.369000	0.25039	0.630000	0.29268	0.600000	0.36913	0.459000	0.21908	0.750000	0.32877	0.555000	0.69702	CGC		0.373	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		21	40	0	0	0	1	0	21	40					T	136742892	C	T	136742892	3	4	48	1	0	0	0	0	1	0	0	0	9275	768	27	1	2204	1	MAP7	6	136742892	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	75743	136742892	34372175	1842	6310										
KIAA1244	57221	broad.mit.edu	37	chr6	138559762	138559762	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagttacgacagaggcaggaGaatacggtgagtctgtgaca	14	7	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:138559762G>T	ENST00000251691.4	+	6	703	c.537G>T	c.(535-537)gaG>gaT	p.E179D		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)		AGAGGCAGGAGAATACGGTGA	0.557																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(535-537)gaG>gaT		KIAA1244							153	141	145					6																	138559762		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138559762G>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.537G>T	6.37:g.138559762G>T	ENSP00000251691:p.Glu179Asp		Somatic					p.E179D	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)	6	703	+	Breast(32;0.135)		179						Missense_Mutation	SNP	ENST00000251691.4	37	c.537G>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974811	0.74360	.	.	ENSG00000112379	ENST00000251691	T	0.05025	3.51	5.44	4.57	0.56435	.	5.484200	0.00166	N	0.000002	T	0.09069	0.0224	L	0.36672	1.1	0.44439	D	0.997369	D	0.69078	0.997	D	0.72625	0.978	T	0.17349	-1.0372	10	0.49607	T	0.09	-17.6358	6.8692	0.24111	0.2972:0.0:0.7028:0.0	.	179	Q5TH69	BIG3_HUMAN	D	179	ENSP00000251691:E179D	ENSP00000251691:E179D	E	+	3	2	KIAA1244	138601455	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.332000	0.33805	1.434000	0.47414	0.655000	0.94253	GAG		0.557	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		46	80	1	0	1.48734e-19	1	2.02648e-19	46	80					T	138559762	G	T	138559762	3	4	48	1	0	0	0	0	1	0	0	0	8226	933	33	2	559	2	KIAA1244	6	138559762	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1816870	138559762	32555305	1843	6311										
ECT2L	345930	broad.mit.edu	37	chr6	139159530	139159530	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaaaggatgcaagtggccaAagtggacttctctacagtgt	12	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:139159530A>G	ENST00000423192.1	+	4	382	c.221A>G	c.(220-222)aAa>aGa	p.K74R	ECT2L_ENST00000541398.1_Missense_Mutation_p.K5R|ECT2L_ENST00000367682.2_Missense_Mutation_p.K74R			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	74							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CAAGTGGCCAAAGTGGACTTC	0.388			"N, Splice, Mis"		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"N, Splice, Mis"	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(220-222)aAa>aGa		epithelial cell transforming sequence 2 oncogene-like							115	107	109					6																	139159530		1833	4088	5921	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139159530A>G		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.221A>G	6.37:g.139159530A>G	ENSP00000387388:p.Lys74Arg		Somatic				ECT2L_ENST00000541398.1_Missense_Mutation_p.K5R|ECT2L_ENST00000367682.2_Missense_Mutation_p.K74R	p.K74R			WXS	Illumina GAIIx	Phase_I	Q008S8	ECT2L_HUMAN			4	382	+			74					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.221A>G	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	A	0.660	-0.806008	0.02819	.	.	ENSG00000203734	ENST00000423192;ENST00000401414;ENST00000367682;ENST00000541398	T;T;T;T	0.54675	0.56;0.96;0.56;0.56	5.83	-4.38	0.03622	F-box domain, Skp2-like (1);	1.220630	0.06777	N	0.784502	T	0.06917	0.0176	N	0.01576	-0.805	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.003	T	0.25813	-1.0121	10	0.16420	T	0.52	-0.0746	8.6715	0.34154	0.3452:0.1293:0.5255:0.0	.	5;74	F5H7S9;Q008S8	.;ECT2L_HUMAN	R	74;74;74;5	ENSP00000387388:K74R;ENSP00000385187:K74R;ENSP00000356655:K74R;ENSP00000442307:K5R	ENSP00000356655:K74R	K	+	2	0	ECT2L	139201223	0.509000	0.26163	0.834000	0.33040	0.088000	0.18126	0.306000	0.19279	-0.632000	0.05553	-1.173000	0.01734	AAA		0.388	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		18	23	0	0	0	1	0	18	23					G	139159530	A	G	139159530	3	3	48	1	0	0	0	0	1	0	0	0	4904	14	1	4	231	4	ECT2L	6	139159530	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	599768	139159530	31955537	1844	6312										
TXLNB	167838	broad.mit.edu	37	chr6	139563669	139563669	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggcacggtgaggcttagtcGacgccttccagattggtgtc	14	10	0	2	rs202149819	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:139563669G>A	ENST00000358430.3	-	10	2281	c.2049C>T	c.(2047-2049)gtC>gtT	p.V683V	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	683						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)		AGGCTTAGTCGACGCCTTCCA	0.582													G|||	2	0.000399361	0	0	5008	,	,		17819	0.002		0	False		,,,				2504	0					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.(2047-2049)gtC>gtT		taxilin beta		G		3,4401	4.2+/-10.8	0,3,2199	39	45	43		2049	-9.6	0.3	6		43	0,8600		0,0,4300	no	coding-synonymous	TXLNB	NM_153235.3		0,3,6499	AA,AG,GG		0.0,0.0681,0.0231		683/685	139563669	3,13001	2202	4300	6502	SO:0001819	synonymous_variant	167838					cytoplasm		g.chr6:139563669G>A		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.2049C>T	6.37:g.139563669G>A			Somatic				RP1-225E12.3_ENST00000585874.1_RNA	p.V683V	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	2281	-			683					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Silent	SNP	ENST00000358430.3	37	c.2049C>T	CCDS34545.1																																																																																				0.582	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		10	59	0	0	0	1	0	10	59					A	139563669	G	A	139563669	2	1	48	1	0	0	0	0	0	0	0	1	16803	1045	37	1		1	TXLNB	6	139563669	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	404139	139563669	31551398	1845	6313										
TXLNB	167838	broad.mit.edu	37	chr6	139581502	139581502	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctccgcttccttcatcatttCttgggcctgctcaagctttg	7	14	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:139581502C>A	ENST00000358430.3	-	6	1187	c.955G>T	c.(955-957)Gaa>Taa	p.E319*		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	319						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)		TTCATCATTTCTTGGGCCTGC	0.408																																						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.(955-957)Gaa>Taa		taxilin beta							117	102	107					6																	139581502		2203	4300	6503	SO:0001587	stop_gained	167838					cytoplasm		g.chr6:139581502C>A		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.955G>T	6.37:g.139581502C>A	ENSP00000351206:p.Glu319*		Somatic					p.E319*	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)	6	1187	-			319					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Nonsense_Mutation	SNP	ENST00000358430.3	37	c.955G>T	CCDS34545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.150150|8.150150	0.98678|0.98678	.|.	.|.	ENSG00000164440|ENSG00000164440	ENST00000358430|ENST00000367652	.|.	.|.	.|.	5.64|5.64	4.77|4.77	0.60923|0.60923	.|.	0.184078|.	0.56097|.	D|.	0.000025|.	.|T	.|0.53899	.|0.1825	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57254	.|-0.7843	.|3	.|.	.|.	.|.	-9.8481|-9.8481	14.5108|14.5108	0.67787|0.67787	0.0:0.9296:0.0:0.0704|0.0:0.9296:0.0:0.0704	.|.	.|.	.|.	.|.	X|I	319|31	.|.	.|.	E|R	-|-	1|2	0|0	TXLNB|TXLNB	139623195|139623195	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.960000|0.960000	0.62799|0.62799	2.671000|2.671000	0.46842|0.46842	1.408000|1.408000	0.46895|0.46895	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.408	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		12	25	1	0	7.03913e-09	1	8.36985e-09	12	25					A	139581502	C	A	139581502	4	1	48	1	0	0	0	0	0	1	0	0	16803	922	32	2	1119	2	TXLNB	6	139581502	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	17833	139581502	31533565	1846	6314										
HIVEP2	3097	broad.mit.edu	37	chr6	143081489	143081489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgtcataagctgagtaactCgaatacttggcaaagtaacc	9	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:143081489C>T	ENST00000367604.1	-	8	6575	c.5936G>A	c.(5935-5937)cGa>cAa	p.R1979Q	HIVEP2_ENST00000012134.2_Missense_Mutation_p.R1979Q|HIVEP2_ENST00000367603.2_Missense_Mutation_p.R1979Q			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1979					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.R1979L(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTGAGTAACTCGAATACTTGG	0.473																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			1	Substitution - Missense(1)	p.R1979L(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(5935-5937)cGa>cAa		human immunodeficiency virus type I enhancer binding protein 2							198	177	184					6																	143081489		1898	4123	6021	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143081489C>T	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5936G>A	6.37:g.143081489C>T	ENSP00000356576:p.Arg1979Gln		Somatic				HIVEP2_ENST00000012134.2_Missense_Mutation_p.R1979Q|HIVEP2_ENST00000367604.1_Missense_Mutation_p.R1979Q	p.R1979Q	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	6678	-			1979					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.5936G>A	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	3.356	-0.131563	0.06753	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02015	4.5;4.5;4.5	6.05	4.9	0.64082	.	0.155974	0.64402	N	0.000017	T	0.00300	0.0009	N	0.01352	-0.895	0.28815	N	0.898007	B	0.02656	0.0	B	0.01281	0.0	T	0.45760	-0.9239	10	0.02654	T	1	-13.8497	11.5218	0.50555	0.0:0.0707:0.0:0.9293	.	1979	P31629	ZEP2_HUMAN	Q	1979	ENSP00000356576:R1979Q;ENSP00000356575:R1979Q;ENSP00000012134:R1979Q	ENSP00000012134:R1979Q	R	-	2	0	HIVEP2	143123182	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.914000	0.48797	1.113000	0.41760	-0.312000	0.09012	CGA		0.473	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			42	90	0	0	0	1	0	42	90					T	143081489	C	T	143081489	3	4	48	1	0	0	0	0	1	0	0	0	7196	884	31	1	1412	1	HIVEP2	6	143081489	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3499987	143081489	28033578	1847	6315										
GRM1	2911	broad.mit.edu	37	chr6	146708098	146708098	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaatgaatatgtgcaagatGagttcacctgcaaagcttgt	10	6	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:146708098G>T	ENST00000282753.1	+	6	1910	c.1675G>T	c.(1675-1677)Gag>Tag	p.E559*	GRM1_ENST00000355289.4_Nonsense_Mutation_p.E559*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.E559*|GRM1_ENST00000392299.2_Nonsense_Mutation_p.E559*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.E559*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.E559*			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	559					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)		TGTGCAAGATGAGTTCACCTG	0.438																																						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.(1675-1677)Gag>Tag		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						166	156	159					6																	146708098		2203	4300	6503	SO:0001587	stop_gained	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146708098G>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.1675G>T	6.37:g.146708098G>T	ENSP00000282753:p.Glu559*		Somatic				GRM1_ENST00000282753.1_Nonsense_Mutation_p.E559*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.E559*|GRM1_ENST00000355289.4_Nonsense_Mutation_p.E559*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.E559*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.E559*	p.E559*			WXS	Illumina GAIIx	Phase_I	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	7	2145	+		Ovarian(120;0.0387)	559					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Nonsense_Mutation	SNP	ENST00000282753.1	37	c.1675G>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	44	10.595875	0.99434	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8113	0.92058	0.0:0.0:1.0:0.0	.	.	.	.	X	559	.	ENSP00000282753:E559X	E	+	1	0	GRM1	146749791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.132000	0.94455	2.517000	0.84864	0.585000	0.79938	GAG		0.438	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		49	90	1	0	1.67211e-32	1	2.39548e-32	49	90					T	146708098	G	T	146708098	4	4	48	1	0	0	0	0	0	1	0	0	6805	1291	45	2	1697	2	GRM1	6	146708098	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3626609	146708098	24406969	1848	6316										
GRM1	2911	broad.mit.edu	37	chr6	146755216	146755216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaccaagaccctttacaacGtagaggaggaggaggatgcc	13	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:146755216G>A	ENST00000282753.1	+	8	3104	c.2869G>A	c.(2869-2871)Gta>Ata	p.V957I	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.V957I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	957					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)		CCTTTACAACGTAGAGGAGGA	0.587																																						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.(2869-2871)Gta>Ata		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						106	108	107					6																	146755216		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755216G>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.2869G>A	6.37:g.146755216G>A	ENSP00000282753:p.Val957Ile		Somatic				GRM1_ENST00000282753.1_Missense_Mutation_p.V957I|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR	p.V957I	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	3339	+		Ovarian(120;0.0387)	957					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2869G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742845	0.69418	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	T;T	0.72167	-0.63;-0.63	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.61615	0.2361	M	0.76328	2.33	0.80722	D	1	P	0.49961	0.93	B	0.34873	0.191	T	0.73500	-0.3963	10	0.72032	D	0.01	.	19.4063	0.94648	0.0:0.0:1.0:0.0	.	957	Q13255	GRM1_HUMAN	I	957	ENSP00000354896:V957I;ENSP00000282753:V957I	ENSP00000282753:V957I	V	+	1	0	GRM1	146796909	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	7.351000	0.79395	2.574000	0.86865	0.462000	0.41574	GTA		0.587	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		15	138	0	0	0	1	0	15	138					A	146755216	G	A	146755216	3	1	48	1	0	0	0	0	1	0	0	0	6805	1145	40	1	2964	1	GRM1	6	146755216	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	47118	146755216	24359851	1849	6317										
STXBP5	134957	broad.mit.edu	37	chr6	147635409	147635409	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttttttataggaatggcccAtcaacggaggtaattggggc	12	6	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:147635409A>G	ENST00000321680.6	+	13	1303	c.1303A>G	c.(1303-1305)Atc>Gtc	p.I435V	STXBP5_ENST00000179882.6_Missense_Mutation_p.I106V|STXBP5_ENST00000367481.3_Missense_Mutation_p.I435V|STXBP5_ENST00000367480.3_Missense_Mutation_p.I435V	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	435					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGAATGGCCCATCAACGGAGG	0.388																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(1303-1305)Atc>Gtc		syntaxin binding protein 5 (tomosyn)							97	106	103					6																	147635409		2202	4300	6502	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147635409A>G	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1303A>G	6.37:g.147635409A>G	ENSP00000321826:p.Ile435Val		Somatic				STXBP5_ENST00000367480.3_Missense_Mutation_p.I435V|STXBP5_ENST00000321680.6_Missense_Mutation_p.I435V|STXBP5_ENST00000179882.6_Missense_Mutation_p.I106V	p.I435V	NM_139244.4	NP_640337.3	WXS	Illumina GAIIx	Phase_I	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	13	1411	+		Ovarian(120;0.0164)	435					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.1303A>G	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.824742	0.32237	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.67698	1.53;1.53;-0.28;1.53	6.14	6.14	0.99180	WD40 repeat-like-containing domain (2);	0.151595	0.64402	D	0.000011	T	0.44623	0.1302	L	0.41906	1.305	0.50467	D	0.999871	B;B;B	0.12013	0.005;0.001;0.0	B;B;B	0.14578	0.011;0.008;0.004	T	0.41448	-0.9508	10	0.21540	T	0.41	.	16.806	0.85666	1.0:0.0:0.0:0.0	.	435;435;106	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	V	435;435;435;106	ENSP00000356451:I435V;ENSP00000321826:I435V;ENSP00000356450:I435V;ENSP00000179882:I106V	ENSP00000179882:I106V	I	+	1	0	STXBP5	147677102	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	3.721000	0.54941	2.367000	0.80283	0.529000	0.55759	ATC		0.388	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			33	71	0	0	0	1	0	33	71					G	147635409	A	G	147635409	3	3	48	1	0	0	0	0	1	0	0	0	15371	217	8	4	1353	4	STXBP5	6	147635409	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	880193	147635409	23479658	1850	6318										
LATS1	9113	broad.mit.edu	37	chr6	149982885	149982885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttaaacatatactagatcgcGatttttaatctctgagcctg	6	8	1	2	rs139248642		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:149982885G>A	ENST00000543571.1	-	8	3920	c.3373C>T	c.(3373-3375)Cgc>Tgc	p.R1125C	LATS1_ENST00000253339.5_Missense_Mutation_p.R1125C	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ACTAGATCGCGATTTTTAATC	0.353																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(3373-3375)Cgc>Tgc		large tumor suppressor kinase 1		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	95	99	98		3373	4.7	1	6	dbSNP_134	98	0,8598		0,0,4299	no	missense	LATS1	NM_004690.2	180	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	1125/1131	149982885	1,13003	2203	4299	6502	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:149982885G>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.3373C>T	6.37:g.149982885G>A	ENSP00000437550:p.Arg1125Cys		Somatic				LATS1_ENST00000253339.5_Missense_Mutation_p.R1125C	p.R1125C	NM_004690.3	NP_004681.1	WXS	Illumina GAIIx	Phase_I	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	8	3920	-		Ovarian(120;0.0164)	1125						Missense_Mutation	SNP	ENST00000543571.1	37	c.3373C>T	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177279	0.38413	2.27E-4	0.0	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.54675	0.56;0.56	5.65	4.74	0.60224	.	0.131649	0.34700	N	0.003744	T	0.15305	0.0369	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08868	-1.0701	9	.	.	.	.	11.6629	0.51358	0.0727:0.1366:0.7906:0.0	.	1125	O95835	LATS1_HUMAN	C	1125	ENSP00000437550:R1125C;ENSP00000253339:R1125C	.	R	-	1	0	LATS1	150024578	1.000000	0.71417	0.985000	0.45067	0.947000	0.59692	3.907000	0.56348	2.659000	0.90383	0.591000	0.81541	CGC		0.353	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		30	50	0	0	0	1	0	30	50					A	149982885	G	A	149982885	3	1	48	1	0	0	0	0	1	0	0	0	8655	1058	37	1	23	1	LATS1	6	149982885	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2347476	149982885	21132182	1851	6319										
LATS1	9113	broad.mit.edu	37	chr6	150001229	150001229	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcccattctaattaataggCtcatcatatcacccccagga	5	13	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:150001229C>A	ENST00000543571.1	-	5	2922	c.2375G>T	c.(2374-2376)aGc>aTc	p.S792I	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.S792I	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AATTAATAGGCTCATCATATC	0.368																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(2374-2376)aGc>aTc		large tumor suppressor kinase 1							121	121	121					6																	150001229		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150001229C>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2375G>T	6.37:g.150001229C>A	ENSP00000437550:p.Ser792Ile		Somatic				LATS1_ENST00000253339.5_Missense_Mutation_p.S792I|LATS1_ENST00000542747.1_5'UTR	p.S792I	NM_004690.3	NP_004681.1	WXS	Illumina GAIIx	Phase_I	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	5	2922	-		Ovarian(120;0.0164)	792			Protein kinase.			Missense_Mutation	SNP	ENST00000543571.1	37	c.2375G>T	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426984	0.83667	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.08984	3.03;3.03	5.5	5.5	0.81552	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	0.15696	0.0378	L	0.43646	1.37	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.02004	-1.1231	9	.	.	.	.	19.7653	0.96337	0.0:1.0:0.0:0.0	.	792	O95835	LATS1_HUMAN	I	792	ENSP00000437550:S792I;ENSP00000253339:S792I	.	S	-	2	0	LATS1	150042922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.050000	0.71063	2.730000	0.93505	0.563000	0.77884	AGC		0.368	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		12	77	1	0	0.010729	1	0.0110271	12	77					A	150001229	C	A	150001229	3	1	48	1	0	0	0	0	1	0	0	0	8655	797	28	5	1033	5	LATS1	6	150001229	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	18344	150001229	21113838	1852	6320										
LATS1	9113	broad.mit.edu	37	chr6	150001373	150001373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taacatgagcgacttgatttCgaagaagaacatctttcttt	7	7	2	4	rs200119992	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:150001373C>T	ENST00000543571.1	-	5	2778	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.R744Q	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.R744Q(2)|p.R744L(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GACTTGATTTCGAAGAAGAAC	0.383													C|||	2	0.000399361	0	0	5008	,	,		20080	0.002		0	False		,,,				2504	0					ENST00000543571.1																			4	Substitution - Missense(4)	p.R744Q(2)|p.R744L(2)	large_intestine(2)|lung(2)	central_nervous_system(1)|lung(5)	6						c.(2230-2232)cGa>cAa		large tumor suppressor kinase 1							116	112	113					6																	150001373		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150001373C>T	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2231G>A	6.37:g.150001373C>T	ENSP00000437550:p.Arg744Gln		Somatic				LATS1_ENST00000253339.5_Missense_Mutation_p.R744Q|LATS1_ENST00000542747.1_5'UTR	p.R744Q	NM_004690.3	NP_004681.1	WXS	Illumina GAIIx	Phase_I	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	5	2778	-		Ovarian(120;0.0164)	744			Protein kinase.			Missense_Mutation	SNP	ENST00000543571.1	37	c.2231G>A	CCDS34551.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	34	5.335617	0.95758	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.64803	-0.12;-0.12	5.49	5.49	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	0.45867	D	0.000335	T	0.59155	0.2173	N	0.16567	0.415	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.57985	-0.7716	9	.	.	.	.	19.7457	0.96251	0.0:1.0:0.0:0.0	.	744	O95835	LATS1_HUMAN	Q	744	ENSP00000437550:R744Q;ENSP00000253339:R744Q	.	R	-	2	0	LATS1	150043066	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.445000	0.80570	2.725000	0.93324	0.557000	0.71058	CGA		0.383	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		42	67	0	0	0	1	0	42	67					T	150001373	C	T	150001373	3	4	48	1	0	0	0	0	1	0	0	0	8655	884	31	1	1177	1	LATS1	6	150001373	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	144	150001373	21113694	1853	6321										
ULBP3	79465	broad.mit.edu	37	chr6	150386730	150386730	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggaggaacttccgtccatcGaagctgaactgccaagatcc	10	12	0	2	rs374852630	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:150386730G>A	ENST00000367339.2	-	3	460	c.432C>T	c.(430-432)ttC>ttT	p.F144F	ULBP3_ENST00000438272.2_Silent_p.F144F			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	144	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)		TCCGTCCATCGAAGCTGAACT	0.527													G|||	2	0.000399361	0.0015	0	5008	,	,		22542	0		0	False		,,,				2504	0					ENST00000367339.1																			0				central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(430-432)ttC>ttT		UL16 binding protein 3		G		1,4405	2.1+/-5.4	0,1,2202	135	126	129		432	0.3	0	6		129	0,8600		0,0,4300	no	coding-synonymous	ULBP3	NM_024518.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		144/245	150386730	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:150386730G>A	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.432C>T	6.37:g.150386730G>A			Somatic				ULBP3_ENST00000438272.2_Silent_p.F144F	p.F144F			WXS	Illumina GAIIx	Phase_I	Q9BZM4	N2DL3_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)	3	460	-		Ovarian(120;0.12)	144			MHC class I alpha-2 like.		Q5VY82|Q8IZX5|Q8TE75	Silent	SNP	ENST00000367339.2	37	c.432C>T	CCDS5225.1																																																																																				0.527	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042678.2			4	129	0	0	0	1	0	4	129					A	150386730	G	A	150386730	2	1	48	1	0	0	0	0	0	0	0	1	16989	1049	37	1		1	ULBP3	6	150386730	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	385357	150386730	20728337	1854	6322										
PLEKHG1	57480	broad.mit.edu	37	chr6	151153217	151153217	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtcagaagattaagaaggcGaatcaacttttaaaagtgaa	9	4	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:151153217G>A	ENST00000358517.2	+	15	3181	c.2970G>A	c.(2968-2970)gcG>gcA	p.A990A	PLEKHG1_ENST00000367328.1_Silent_p.A990A			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	990							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TTAAGAAGGCGAATCAACTTT	0.498																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(2968-2970)gcG>gcA		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							81	94	90					6																	151153217		2203	4300	6503	SO:0001819	synonymous_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151153217G>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.2970G>A	6.37:g.151153217G>A			Somatic				PLEKHG1_ENST00000358517.2_Silent_p.A990A	p.A990A	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	3282	+			990					Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.2970G>A	CCDS34552.1																																																																																				0.498	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			107	135	0	0	0	1	0	107	135					A	151153217	G	A	151153217	2	1	48	1	0	0	0	0	0	0	0	1	12077	1045	37	1		1	PLEKHG1	6	151153217	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	766487	151153217	19961850	1855	6323										
AKAP12	9590	broad.mit.edu	37	chr6	151671102	151671102	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttttaccagcactggcttaAaaaagctttctggaaagaaa	7	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:151671102A>C	ENST00000253332.1	+	3	1765	c.1576A>C	c.(1576-1578)Aaa>Caa	p.K526Q	snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000359755.5_Missense_Mutation_p.K421Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.K428Q|AKAP12_ENST00000402676.2_Missense_Mutation_p.K526Q			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	526	Involved in PKC-binding. {ECO:0000305}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CACTGGCTTAAAAAAGCTTTC	0.507																																					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.(1576-1578)Aaa>Caa		A kinase (PRKA) anchor protein 12							74	84	81					6																	151671102		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.chr6:151671102A>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.1576A>C	6.37:g.151671102A>C	ENSP00000253332:p.Lys526Gln		Somatic				AKAP12_ENST00000253332.1_Missense_Mutation_p.K526Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.K428Q|AKAP12_ENST00000359755.5_Missense_Mutation_p.K421Q	p.K526Q	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	1816	+		Ovarian(120;0.125)	526			Involved in PKC-binding (Probable).		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.1576A>C	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.620243	0.87460	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.15834	2.39;2.39;2.41;2.41	5.22	5.22	0.72569	.	0.000000	0.41194	D	0.000931	T	0.32102	0.0818	M	0.74881	2.28	0.47778	D	0.99951	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.986;0.968	T	0.04811	-1.0925	10	0.40728	T	0.16	.	15.4264	0.75055	1.0:0.0:0.0:0.0	.	421;428;526	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	Q	526;526;428;421	ENSP00000384537:K526Q;ENSP00000253332:K526Q;ENSP00000346702:K428Q;ENSP00000352794:K421Q	ENSP00000253332:K526Q	K	+	1	0	AKAP12	151712795	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.287000	0.95975	2.096000	0.63516	0.528000	0.53228	AAA		0.507	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			49	70	0	0	0	1	0	49	70					C	151671102	A	C	151671102	3	2	48	1	0	0	0	0	1	0	0	0	448	15	1	4	1615	4	AKAP12	6	151671102	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	517885	151671102	19443965	1856	6324										
AKAP12	9590	broad.mit.edu	37	chr6	151671492	151671492	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagcctctgaaatgcaagaaGaaatgaaagggagcgtggaa	13	6	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:151671492G>T	ENST00000253332.1	+	3	2155	c.1966G>T	c.(1966-1968)Gaa>Taa	p.E656*	AKAP12_ENST00000359755.5_Nonsense_Mutation_p.E551*|AKAP12_ENST00000354675.6_Nonsense_Mutation_p.E558*|AKAP12_ENST00000402676.2_Nonsense_Mutation_p.E656*			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	656					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)		AATGCAAGAAGAAATGAAAGG	0.483																																					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.(1966-1968)Gaa>Taa		A kinase (PRKA) anchor protein 12							75	73	73					6																	151671492		2203	4300	6503	SO:0001587	stop_gained	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.chr6:151671492G>T	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1966G>T	6.37:g.151671492G>T	ENSP00000253332:p.Glu656*		Somatic				AKAP12_ENST00000253332.1_Nonsense_Mutation_p.E656*|AKAP12_ENST00000354675.6_Nonsense_Mutation_p.E558*|AKAP12_ENST00000359755.5_Nonsense_Mutation_p.E551*	p.E656*	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	2206	+		Ovarian(120;0.125)	656					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Nonsense_Mutation	SNP	ENST00000253332.1	37	c.1966G>T	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	37	6.045721	0.97231	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	.	.	.	5.52	5.52	0.82312	.	0.176166	0.27513	N	0.019039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	16.9637	0.86280	0.0:0.0:1.0:0.0	.	.	.	.	X	656;656;558;551	.	ENSP00000253332:E656X	E	+	1	0	AKAP12	151713185	1.000000	0.71417	0.073000	0.20177	0.348000	0.29142	7.845000	0.86875	2.591000	0.87537	0.650000	0.86243	GAA		0.483	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			20	48	1	0	2.4624e-09	1	2.95225e-09	20	48					T	151671492	G	T	151671492	4	4	48	1	0	0	0	0	0	1	0	0	448	943	33	2	2005	2	AKAP12	6	151671492	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	390	151671492	19443575	1857	6325										
C6orf211	79624	broad.mit.edu	37	chr6	151789606	151789606	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgaatgatatggaacatctTtggtcattgcttagcaattg	9	5	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:151789606T>G	ENST00000367294.3	+	5	946	c.687T>G	c.(685-687)ctT>ctG	p.L229L	C6orf211_ENST00000545879.1_Silent_p.L110L	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	229										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TGGAACATCTTTGGTCATTGC	0.343																																						ENST00000367294.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15						c.(685-687)ctT>ctG		chromosome 6 open reading frame 211							84	87	86					6																	151789606		2203	4300	6503	SO:0001819	synonymous_variant	79624						protein binding	g.chr6:151789606T>G	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.687T>G	6.37:g.151789606T>G			Somatic				C6orf211_ENST00000545879.1_Silent_p.L110L	p.L229L	NM_024573.1	NP_078849.1	WXS	Illumina GAIIx	Phase_I	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	5	946	+			229					Q96FC6|Q9UFY5	Silent	SNP	ENST00000367294.3	37	c.687T>G	CCDS5233.1																																																																																				0.343	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		20	36	0	0	0	1	0	20	36					G	151789606	T	G	151789606	2	3	48	1	0	0	0	0	0	0	0	1	2356	1828	64	4		4	C6orf211	6	151789606	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	118114	151789606	19325461	1858	6326										
SYNE1	23345	broad.mit.edu	37	chr6	152476036	152476036	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttatagattacctcaaatttCtttagttcttccttggcaac	4	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:152476036C>A	ENST00000367255.5	-	133	24721	c.24120G>T	c.(24118-24120)aaG>aaT	p.K8040N	SYNE1_ENST00000341594.5_Missense_Mutation_p.K7652N|SYNE1_ENST00000354674.4_Missense_Mutation_p.K195N|SYNE1_ENST00000539504.1_Missense_Mutation_p.K195N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K7969N|SYNE1_ENST00000356820.4_Missense_Mutation_p.K2564N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K7969N|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Missense_Mutation_p.K8040N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8040					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)		CCTCAAATTTCTTTAGTTCTT	0.383										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(24118-24120)aaG>aaT		spectrin repeat containing, nuclear envelope 1							79	88	85					6																	152476036		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.chr6:152476036C>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.24120G>T	6.37:g.152476036C>A	ENSP00000356224:p.Lys8040Asn	HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000423061.1_Missense_Mutation_p.K7969N|SYNE1_ENST00000539504.1_Missense_Mutation_p.K195N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K8040N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K7652N|SYNE1_ENST00000356820.4_Missense_Mutation_p.K2564N|SYNE1_ENST00000354674.4_Missense_Mutation_p.K195N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K7969N|SYNE1_ENST00000347037.5_5'UTR	p.K8040N	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)	133	24721	-		Ovarian(120;0.0955)	8040					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.24120G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006873	0.74932	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.55413	1.2;0.52;0.52;1.2;1.2;1.2;1.2;0.52;0.52;0.52	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000011	T	0.67636	0.2914	M	0.79123	2.44	0.58432	D	0.999994	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.989	T	0.70447	-0.4869	10	0.72032	D	0.01	.	13.7717	0.63029	0.0:0.9303:0.0:0.0697	.	8040;8040;7969;7969;242	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	N	8040;195;686;7969;8040;7969;7652;2564;202;197;962;195	ENSP00000356224:K8040N;ENSP00000441052:K195N;ENSP00000356226:K686N;ENSP00000396024:K7969N;ENSP00000265368:K8040N;ENSP00000390975:K7969N;ENSP00000341887:K7652N;ENSP00000349276:K2564N;ENSP00000356220:K962N;ENSP00000346701:K195N	ENSP00000265368:K8040N	K	-	3	2	SYNE1	152517729	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.192000	0.42649	2.882000	0.98803	0.655000	0.94253	AAG		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		47	70	1	0	1.48734e-19	1	2.02648e-19	47	70					A	152476036	C	A	152476036	3	1	48	1	0	0	0	0	1	0	0	0	15460	912	32	2	2402	2	SYNE1	6	152476036	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	686430	152476036	18639031	1859	6327										
SYNE1	23345	broad.mit.edu	37	chr6	152673366	152673366	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccttcaactgctccatgtgAtcatgaatctcctttcttaa	4	12	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:152673366A>G	ENST00000367255.5	-	70	11977	c.11376T>C	c.(11374-11376)gaT>gaC	p.D3792D	SYNE1_ENST00000341594.5_Silent_p.D3763D|SYNE1_ENST00000448038.1_Silent_p.D3777D|SYNE1_ENST00000423061.1_Silent_p.D3777D|SYNE1_ENST00000265368.4_Silent_p.D3792D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3792					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)		GCTCCATGTGATCATGAATCT	0.458										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(11374-11376)gaT>gaC		spectrin repeat containing, nuclear envelope 1							237	214	222					6																	152673366		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.chr6:152673366A>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.11376T>C	6.37:g.152673366A>G		HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000423061.1_Silent_p.D3777D|SYNE1_ENST00000265368.4_Silent_p.D3792D|SYNE1_ENST00000341594.5_Silent_p.D3763D|SYNE1_ENST00000448038.1_Silent_p.D3777D	p.D3792D	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)	70	11977	-		Ovarian(120;0.0955)	3792					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.11376T>C	CCDS5236.2																																																																																				0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		31	62	0	0	0	1	0	31	62					G	152673366	A	G	152673366	2	3	48	1	0	0	0	0	0	0	0	1	15460	330	12	4		4	SYNE1	6	152673366	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	197330	152673366	18441701	1860	6328										
SYNE1	23345	broad.mit.edu	37	chr6	152674558	152674558	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaatctcctcctccaggaatTttatttgttcctatgaaaga	6	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:152674558T>G	ENST00000367255.5	-	69	11694	c.11093A>C	c.(11092-11094)aAa>aCa	p.K3698T	SYNE1_ENST00000341594.5_Missense_Mutation_p.K3669T|SYNE1_ENST00000448038.1_Missense_Mutation_p.K3683T|SYNE1_ENST00000423061.1_Missense_Mutation_p.K3683T|SYNE1_ENST00000265368.4_Missense_Mutation_p.K3698T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3698					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)		CTCCAGGAATTTTATTTGTTC	0.388										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(11092-11094)aAa>aCa		spectrin repeat containing, nuclear envelope 1							53	57	55					6																	152674558		2201	4300	6501	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.chr6:152674558T>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.11093A>C	6.37:g.152674558T>G	ENSP00000356224:p.Lys3698Thr	HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000423061.1_Missense_Mutation_p.K3683T|SYNE1_ENST00000265368.4_Missense_Mutation_p.K3698T|SYNE1_ENST00000341594.5_Missense_Mutation_p.K3669T|SYNE1_ENST00000448038.1_Missense_Mutation_p.K3683T	p.K3698T	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)	69	11694	-		Ovarian(120;0.0955)	3698					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.11093A>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	18.40	3.616210	0.66672	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000007	T	0.50667	0.1629	M	0.66939	2.045	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	0.51624	-0.8682	10	0.48119	T	0.1	.	16.0707	0.80928	0.0:0.0:0.0:1.0	.	3698;3698;3698;3683	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	3698;3683;3698;3683;3669	ENSP00000356224:K3698T;ENSP00000396024:K3683T;ENSP00000265368:K3698T;ENSP00000390975:K3683T;ENSP00000341887:K3669T	ENSP00000265368:K3698T	K	-	2	0	SYNE1	152716251	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	5.938000	0.70170	2.194000	0.70268	0.533000	0.62120	AAA		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		12	36	0	0	0	1	0	12	36					G	152674558	T	G	152674558	3	3	48	1	0	0	0	0	1	0	0	0	15460	1841	64	4	15685	4	SYNE1	6	152674558	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1192	152674558	18440509	1861	6329										
MYCT1	80177	broad.mit.edu	37	chr6	153019160	153019160	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttctgtttttcttctcttTcttctatttcttgtggatat	4	8	6	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:153019160T>G	ENST00000367245.5	+	1	131	c.123T>G	c.(121-123)ttT>ttG	p.F41L	MYCT1_ENST00000529453.1_Missense_Mutation_p.F41L	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	41						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TTCTTCTCTTTCTTCTATTTC	0.318																																						ENST00000367245.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(121-123)ttT>ttG		myc target 1							53	53	53					6																	153019160		2203	4296	6499	SO:0001583	missense	80177					nucleus		g.chr6:153019160T>G	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.123T>G	6.37:g.153019160T>G	ENSP00000356214:p.Phe41Leu		Somatic				MYCT1_ENST00000529453.1_Missense_Mutation_p.F41L	p.F41L	NM_025107.2	NP_079383.2	WXS	Illumina GAIIx	Phase_I	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	1	131	+		Ovarian(120;0.0654)	41					Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.123T>G	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.24|11.24	1.579551|1.579551	0.28180|0.28180	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000532295|ENST00000367245;ENST00000529453	T|T	0.34859|0.31769	1.34|1.48	3.76|3.76	3.76|3.76	0.43208|0.43208	.|.	1.651120|1.651120	0.04091|0.04091	N|N	0.311314|0.311314	T|T	0.05547|0.05547	0.0146|0.0146	N|N	0.08118|0.08118	0|0	0.25657|0.25657	N|N	0.98605|0.98605	.|B	.|0.19200	.|0.034	.|B	.|0.14023	.|0.01	T|T	0.22312|0.22312	-1.0220|-1.0220	8|10	0.72032|0.10111	D|T	0.01|0.7	-0.2871|-0.2871	9.1806|9.1806	0.37138|0.37138	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|41	.|Q8N699	.|MYCT1_HUMAN	C|L	22|41	ENSP00000434396:F22C|ENSP00000356214:F41L	ENSP00000434396:F22C|ENSP00000356214:F41L	F|F	+|+	2|3	0|2	MYCT1|MYCT1	153060853|153060853	0.017000|0.017000	0.18338|0.18338	0.846000|0.846000	0.33378|0.33378	0.920000|0.920000	0.55202|0.55202	0.462000|0.462000	0.21956|0.21956	1.952000|1.952000	0.56665|0.56665	0.528000|0.528000	0.53228|0.53228	TTC|TTT		0.318	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		5	12	0	0	0	1	0	5	12					G	153019160	T	G	153019160	3	3	48	1	0	0	0	0	1	0	0	0	10031	1780	62	4	125	4	MYCT1	6	153019160	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	344602	153019160	18095907	1862	6330										
VIP	7432	broad.mit.edu	37	chr6	153076473	153076473	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgggtcaactttctgccaaAaagtaccttgagtctcttat	7	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:153076473A>C	ENST00000367244.3	+	4	472	c.300A>C	c.(298-300)aaA>aaC	p.K100N	VIP_ENST00000367243.3_Missense_Mutation_p.K100N	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	100					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		TTTCTGCCAAAAAGTACCTTG	0.308																																						ENST00000367244.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6						c.(298-300)aaA>aaC		vasoactive intestinal peptide							62	63	63					6																	153076473		2203	4300	6503	SO:0001583	missense	7432				body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity	g.chr6:153076473A>C		CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"Endogenous ligands"	12693	protein-coding gene	gene with protein product	"prepro-VIP"	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.300A>C	6.37:g.153076473A>C	ENSP00000356213:p.Lys100Asn		Somatic				VIP_ENST00000367243.3_Missense_Mutation_p.K100N	p.K100N	NM_003381.3	NP_003372.1	WXS	Illumina GAIIx	Phase_I	P01282	VIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)	4	472	+		Ovarian(120;0.0654)	100					Q5TCY8|Q5TCY9|Q96QK3	Missense_Mutation	SNP	ENST00000367244.3	37	c.300A>C	CCDS5240.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.36|19.36	3.812600|3.812600	0.70912|0.70912	.|.	.|.	ENSG00000146469|ENSG00000146469	ENST00000367244;ENST00000367243|ENST00000431366	T;T|T	0.44083|0.36699	0.93;0.93|1.24	6.06|6.06	2.4|2.4	0.29515|0.29515	Glucagon/GIP/secretin/VIP (3);|.	0.140154|0.140154	0.64402|0.64402	D|N	0.000006|0.000006	T|T	0.29524|0.29524	0.0736|0.0736	M|M	0.81802|0.81802	2.56|2.56	0.37847|0.37847	D|D	0.929242|0.929242	D;D;P|.	0.60575|.	0.988;0.985;0.866|.	P;P;P|.	0.62435|.	0.902;0.809;0.735|.	T|T	0.21793|0.21793	-1.0235|-1.0235	10|8	0.72032|0.15066	D|T	0.01|0.55	.|.	9.4019|9.4019	0.38437|0.38437	0.712:0.0:0.288:0.0|0.712:0.0:0.288:0.0	.|.	100;100;100|.	A8K7E4;P01282-2;P01282|.	.;.;VIP_HUMAN|.	N|Q	100|50	ENSP00000356213:K100N;ENSP00000356212:K100N|ENSP00000410356:K50Q	ENSP00000356212:K100N|ENSP00000410356:K50Q	K|K	+|+	3|1	2|0	VIP|VIP	153118166|153118166	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.975000|0.975000	0.68041|0.68041	0.750000|0.750000	0.26334|0.26334	0.186000|0.186000	0.20125|0.20125	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.308	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042751.1			10	21	0	0	0	1	0	10	21					C	153076473	A	C	153076473	3	2	48	1	0	0	0	0	1	0	0	0	17182	11	1	4	310	4	VIP	6	153076473	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	57313	153076473	18038594	1863	6331										
IPCEF1	26034	broad.mit.edu	37	chr6	154481002	154481002	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagggagaagaaggtgatttCttgagttcctggggggtgtc	18	4	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:154481002C>A	ENST00000265198.4	-	12	1430	c.1275G>T	c.(1273-1275)aaG>aaT	p.K425N	IPCEF1_ENST00000422970.2_Missense_Mutation_p.K426N|IPCEF1_ENST00000519344.1_Missense_Mutation_p.K397N|IPCEF1_ENST00000367220.4_Missense_Mutation_p.K426N|OPRM1_ENST00000337049.4_Intron	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	425					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						AAGGTGATTTCTTGAGTTCCT	0.463																																						ENST00000265198.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						c.(1273-1275)aaG>aaT		interaction protein for cytohesin exchange factors 1							63	66	65					6																	154481002		2203	4300	6503	SO:0001583	missense	26034							g.chr6:154481002C>A	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"Pleckstrin homology (PH) domain containing"	21204	protein-coding gene	gene with protein product	"phosphoinositide binding protein PIP3-E"					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.1275G>T	6.37:g.154481002C>A	ENSP00000265198:p.Lys425Asn		Somatic				OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000519344.1_Missense_Mutation_p.K397N|IPCEF1_ENST00000367220.4_Missense_Mutation_p.K426N|IPCEF1_ENST00000422970.2_Missense_Mutation_p.K426N	p.K425N	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	WXS	Illumina GAIIx	Phase_I					12	1430	-								A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Missense_Mutation	SNP	ENST00000265198.4	37	c.1275G>T	CCDS5245.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673148	0.29693	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000519344	T;T;T;T	0.15017	2.47;2.46;2.46;2.47	5.32	2.6	0.31112	.	1.799370	0.02662	N	0.107606	T	0.03959	0.0111	N	0.22421	0.69	0.09310	N	1	B;B;B	0.22346	0.023;0.039;0.068	B;B;B	0.21546	0.016;0.035;0.035	T	0.37314	-0.9711	10	0.20046	T	0.44	-19.5575	8.4785	0.33027	0.0:0.7027:0.0:0.2973	.	425;426;397	Q8WWN9;Q8WWN9-2;G3V132	ICEF1_HUMAN;.;.	N	425;426;426;397	ENSP00000265198:K425N;ENSP00000394751:K426N;ENSP00000356189:K426N;ENSP00000430287:K397N	ENSP00000265198:K425N	K	-	3	2	IPCEF1	154522694	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	0.984000	0.29565	0.256000	0.21614	-0.244000	0.11960	AAG		0.463	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699		6	32	1	0	0.217242	1	0.218251	6	32					A	154481002	C	A	154481002	3	1	48	1	0	0	0	0	1	0	0	0	7800	912	32	2	42	2	IPCEF1	6	154481002	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1404529	154481002	16634065	1864	6332										
TIAM2	26230	broad.mit.edu	37	chr6	155458506	155458506	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acatttatgagaatttcatgCgagagttggaaatgagcagg	12	4	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155458506C>T	ENST00000461783.3	+	7	2663	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	TIAM2_ENST00000318981.5_Nonsense_Mutation_p.R464*|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Nonsense_Mutation_p.R464*|TIAM2_ENST00000360366.4_Nonsense_Mutation_p.R464*|TIAM2_ENST00000456144.1_Nonsense_Mutation_p.R464*			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	464					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)		GAATTTCATGCGAGAGTTGGA	0.512																																						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.(1390-1392)Cga>Tga		T-cell lymphoma invasion and metastasis 2							104	112	109					6																	155458506		2203	4300	6503	SO:0001587	stop_gained	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.chr6:155458506C>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.1390C>T	6.37:g.155458506C>T	ENSP00000437188:p.Arg464*		Somatic				TIAM2_ENST00000360366.4_Nonsense_Mutation_p.R464*|TIAM2_ENST00000529824.2_Nonsense_Mutation_p.R464*|TIAM2_ENST00000456144.1_Nonsense_Mutation_p.R464*|TIAM2_ENST00000318981.5_Nonsense_Mutation_p.R464*|TIAM2_ENST00000367174.2_5'UTR	p.R464*			WXS	Illumina GAIIx	Phase_I	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	7	2663	+		Ovarian(120;0.196)	464					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Nonsense_Mutation	SNP	ENST00000461783.3	37	c.1390C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	42	9.773442	0.99260	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	.	.	.	6.08	5.2	0.72013	.	0.060275	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7505	0.85484	0.1303:0.8697:0.0:0.0	.	.	.	.	X	464;710;464;464;464;464;464	.	ENSP00000327315:R464X	R	+	1	2	TIAM2	155500198	1.000000	0.71417	0.993000	0.49108	0.932000	0.56968	2.365000	0.44196	1.561000	0.49584	0.655000	0.94253	CGA		0.512	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		31	207	0	0	0	1	0	31	207					T	155458506	C	T	155458506	4	4	48	1	0	0	0	0	0	1	0	0	15906	760	27	1	1396	1	TIAM2	6	155458506	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	977504	155458506	15656561	1865	6333										
TIAM2	26230	broad.mit.edu	37	chr6	155569225	155569225	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagtcctacctcatcaagccGgttcagagagtgctcaagta	10	11	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155569225G>A	ENST00000461783.3	+	22	5017	c.3744G>A	c.(3742-3744)ccG>ccA	p.P1248P	TIAM2_ENST00000456877.2_Silent_p.P560P|TIAM2_ENST00000318981.5_Silent_p.P1248P|TIAM2_ENST00000367174.2_Silent_p.P624P|TIAM2_ENST00000529824.2_Silent_p.P1248P|TIAM2_ENST00000360366.4_Silent_p.P1272P|TIAM2_ENST00000456144.1_Silent_p.P1248P|TIAM2_ENST00000528391.2_Silent_p.P584P|TIAM2_ENST00000275246.7_Silent_p.P173P			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1248	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)		TCATCAAGCCGGTTCAGAGAG	0.592											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(3742-3744)ccG>ccA		T-cell lymphoma invasion and metastasis 2																																				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.chr6:155569225G>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.3744G>A	6.37:g.155569225G>A			Somatic	OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1771	TIAM2_ENST00000456877.2_Silent_p.P560P|TIAM2_ENST00000275246.7_Silent_p.P173P|TIAM2_ENST00000360366.4_Silent_p.P1272P|TIAM2_ENST00000528391.2_Silent_p.P584P|TIAM2_ENST00000529824.2_Silent_p.P1248P|TIAM2_ENST00000456144.1_Silent_p.P1248P|TIAM2_ENST00000318981.5_Silent_p.P1248P|TIAM2_ENST00000367174.2_Silent_p.P624P	p.P1248P			WXS	Illumina GAIIx	Phase_I	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	22	5017	+		Ovarian(120;0.196)	1248			DH.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	c.3744G>A	CCDS34558.1																																																																																				0.592	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		18	49	0	0	0	1	0	18	49					A	155569225	G	A	155569225	2	1	48	1	0	0	0	0	0	0	0	1	15906	1103	39	1		1	TIAM2	6	155569225	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	110719	155569225	15545842	1866	6334										
TIAM2	26230	broad.mit.edu	37	chr6	155578064	155578064	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgccccattaaacgaaaaGccaacagcaccaagagggac	8	13	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155578064G>T	ENST00000461783.3	+	29	6188	c.4915G>T	c.(4915-4917)Gcc>Tcc	p.A1639S	TIAM2_ENST00000456877.2_Missense_Mutation_p.A951S|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000318981.5_Missense_Mutation_p.A1639S|TIAM2_ENST00000367174.2_Missense_Mutation_p.A1015S|TIAM2_ENST00000529824.2_Missense_Mutation_p.A1668S|TIAM2_ENST00000360366.4_Missense_Mutation_p.A1663S|TIAM2_ENST00000456144.1_Missense_Mutation_p.A1668S|TIAM2_ENST00000528391.2_Missense_Mutation_p.A983S|TIAM2_ENST00000275246.7_Missense_Mutation_p.A564S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1639				A -> T (in Ref. 7; BAC86170). {ECO:0000305}.	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)		TAAACGAAAAGCCAACAGCAC	0.572																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(4915-4917)Gcc>Tcc		T-cell lymphoma invasion and metastasis 2							65	62	63					6																	155578064		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.chr6:155578064G>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.4915G>T	6.37:g.155578064G>T	ENSP00000437188:p.Ala1639Ser		Somatic				TIAM2_ENST00000456877.2_Missense_Mutation_p.A951S|TIAM2_ENST00000275246.7_Missense_Mutation_p.A564S|TIAM2_ENST00000360366.4_Missense_Mutation_p.A1663S|TIAM2_ENST00000528391.2_Missense_Mutation_p.A983S|TIAM2_ENST00000529824.2_Missense_Mutation_p.A1668S|TIAM2_ENST00000456144.1_Missense_Mutation_p.A1668S|TIAM2_ENST00000318981.5_Missense_Mutation_p.A1639S|TIAM2_ENST00000367174.2_Missense_Mutation_p.A1015S	p.A1639S			WXS	Illumina GAIIx	Phase_I	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	29	6188	+		Ovarian(120;0.196)	1639	A -> T (in Ref. 7; BAC86170).				B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.4915G>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387476	0.42308	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T	0.08193	3.6;3.52;3.6;3.41;3.58;3.52;3.41;3.41;3.12	5.86	5.86	0.93980	.	0.226348	0.45126	D	0.000400	T	0.04407	0.0121	L	0.59436	1.845	0.26873	N	0.967717	B;B;B;B	0.25955	0.085;0.138;0.138;0.085	B;B;B;B	0.23150	0.009;0.044;0.044;0.02	T	0.23226	-1.0194	10	0.22109	T	0.4	.	15.4745	0.75468	0.0:0.1373:0.8627:0.0	.	983;1668;1663;1639	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	S	1639;1885;1668;1639;1015;1663;1668;951;983;564	ENSP00000437188:A1639S;ENSP00000407746:A1668S;ENSP00000327315:A1639S;ENSP00000356142:A1015S;ENSP00000353528:A1663S;ENSP00000433348:A1668S;ENSP00000407183:A951S;ENSP00000435335:A983S;ENSP00000275246:A564S	ENSP00000275246:A564S	A	+	1	0	TIAM2	155619756	0.992000	0.36948	0.964000	0.40570	0.986000	0.74619	1.399000	0.34566	2.775000	0.95449	0.655000	0.94253	GCC		0.572	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		5	56	1	0	1.23904e-05	1	1.36503e-05	5	56					T	155578064	G	T	155578064	3	4	48	1	0	0	0	0	1	0	0	0	15906	971	34	5	5009	5	TIAM2	6	155578064	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	8839	155578064	15537003	1867	6335										
CLDN20	49861	broad.mit.edu	37	chr6	155597436	155597436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaatccagaagctagactcGacccacccacacagcagcct	8	16	0	2	rs538851441	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155597436G>A	ENST00000367165.3	+	2	963	c.583G>A	c.(583-585)Gac>Aac	p.D195N	TFB1M_ENST00000367166.4_Intron	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN	claudin 20	195					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)		AGCTAGACTCGACCCACCCAC	0.408													G|||	3	0.000599042	0	0.0014	5008	,	,		18322	0		0	False		,,,				2504	0.002					ENST00000367165.3																			0				endometrium(1)|lung(2)	3						c.(583-585)Gac>Aac		claudin 20							57	54	55					6																	155597436		2201	4292	6493	SO:0001583	missense	49861				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr6:155597436G>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.583G>A	6.37:g.155597436G>A	ENSP00000356133:p.Asp195Asn		Somatic				TFB1M_ENST00000367166.4_Intron	p.D195N	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	963	+			195						Missense_Mutation	SNP	ENST00000367165.3	37	c.583G>A	CCDS5249.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531812	0.27387	.	.	ENSG00000171217	ENST00000367165	D	0.84070	-1.8	5.71	-11.4	0.00090	.	2.408470	0.01130	N	0.005973	T	0.29321	0.0730	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40365	-0.9567	10	0.09843	T	0.71	.	4.6203	0.12447	0.1656:0.4671:0.1729:0.1944	.	195	P56880	CLD20_HUMAN	N	195	ENSP00000356133:D195N	ENSP00000356133:D195N	D	+	1	0	CLDN20	155639128	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.209000	0.09358	-3.584000	0.00137	-1.461000	0.01025	GAC		0.408	CLDN20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042818.1	NM_001001346		18	39	0	0	0	1	0	18	39					A	155597436	G	A	155597436	3	1	48	1	0	0	0	0	1	0	0	0	3484	1058	37	1	585	1	CLDN20	6	155597436	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	19372	155597436	15517631	1868	6336										
NOX3	50508	broad.mit.edu	37	chr6	155743877	155743877	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cactgcatttgtaccatataGatttcagaagagcagcgaag	9	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155743877G>T	ENST00000159060.2	-	10	1361	c.1259C>A	c.(1258-1260)tCt>tAt	p.S420Y		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	420					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GTACCATATAGATTTCAGAAG	0.498																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1258-1260)tCt>tAt		NADPH oxidase 3							150	140	143					6																	155743877		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743877G>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1259C>A	6.37:g.155743877G>T	ENSP00000159060:p.Ser420Tyr		Somatic					p.S420Y	NM_015718.2	NP_056533.1	WXS	Illumina GAIIx	Phase_I	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1361	-		Breast(66;0.0183)	420					Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.1259C>A	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956182	0.73902	.	.	ENSG00000074771	ENST00000159060	D	0.95171	-3.63	5.81	5.81	0.92471	Ferric reductase, NAD binding (1);	0.000000	0.64402	D	0.000002	D	0.97539	0.9194	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97454	1.0030	10	0.66056	D	0.02	-25.9783	20.0755	0.97742	0.0:0.0:1.0:0.0	.	420	Q9HBY0	NOX3_HUMAN	Y	420	ENSP00000159060:S420Y	ENSP00000159060:S420Y	S	-	2	0	NOX3	155785569	1.000000	0.71417	0.941000	0.38009	0.353000	0.29299	9.476000	0.97823	2.747000	0.94245	0.643000	0.83706	TCT		0.498	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			42	69	1	0	6.48837e-15	1	8.49851e-15	42	69					T	155743877	G	T	155743877	3	4	48	1	0	0	0	0	1	0	0	0	10566	942	33	2	463	2	NOX3	6	155743877	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	146441	155743877	15371190	1869	6337										
ARID1B	57492	broad.mit.edu	37	chr6	157528886	157528886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcggccaaggctttgctagCcatggccagagtggacgaaa	15	10	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:157528886C>T	ENST00000350026.5	+	19	6573	c.6572C>T	c.(6571-6573)gCc>gTc	p.A2191V	ARID1B_ENST00000367148.1_Missense_Mutation_p.A2244V|ARID1B_ENST00000346085.5_Missense_Mutation_p.A2204V|ARID1B_ENST00000275248.4_Missense_Mutation_p.A2186V	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2191					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)		GCTTTGCTAGCCATGGCCAGA	0.572																																						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.(6610-6612)gCc>gTc		AT rich interactive domain 1B (SWI1-like)							110	105	107					6																	157528886		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.chr6:157528886C>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.6572C>T	6.37:g.157528886C>T	ENSP00000055163:p.Ala2191Val		Somatic				ARID1B_ENST00000275248.4_Missense_Mutation_p.A2186V|ARID1B_ENST00000367148.1_Missense_Mutation_p.A2244V|ARID1B_ENST00000350026.5_Missense_Mutation_p.A2191V	p.A2204V	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	6612	+		Breast(66;0.000162)|Ovarian(120;0.0265)	2191					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.6611C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352668	0.61293	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.61	5.61	0.85477	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.64516	0.2605	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	T	0.65022	-0.6269	10	0.66056	D	0.02	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	2191;2204;2186	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	V	2204;2191;2244;2186;1713	ENSP00000344546:A2204V;ENSP00000055163:A2191V;ENSP00000356116:A2244V;ENSP00000275248:A2186V;ENSP00000412835:A1713V	ENSP00000275248:A2186V	A	+	2	0	ARID1B	157570578	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.768000	0.85345	2.793000	0.96121	0.655000	0.94253	GCC		0.572	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		43	80	0	0	0	1	0	43	80					T	157528886	C	T	157528886	3	4	48	1	0	0	0	0	1	0	0	0	914	739	26	3	6689	3	ARID1B	6	157528886	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1785009	157528886	13586181	1870	6338										
FNDC1	84624	broad.mit.edu	37	chr6	159687252	159687252	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtaattcactgaggtataaAatctacctcagtgacaacct	6	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:159687252A>C	ENST00000297267.9	+	21	5621	c.5421A>C	c.(5419-5421)aaA>aaC	p.K1807N	FNDC1_ENST00000340366.6_Missense_Mutation_p.K1744N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1807					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)		TGAGGTATAAAATCTACCTCA	0.443																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(5419-5421)aaA>aaC		fibronectin type III domain containing 1							136	134	135					6																	159687252		1914	4130	6044	SO:0001583	missense	84624					extracellular region		g.chr6:159687252A>C	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.5421A>C	6.37:g.159687252A>C	ENSP00000297267:p.Lys1807Asn		Somatic				FNDC1_ENST00000340366.6_Missense_Mutation_p.K1744N	p.K1807N	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)	21	5621	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1807					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.5421A>C	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.54|19.54	3.846945|3.846945	0.71603|0.71603	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.56776|.	0.44;0.44|.	6.07|6.07	2.33|2.33	0.28932|0.28932	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49813|0.49813	0.1579|0.1579	M|M	0.69358|0.69358	2.11|2.11	0.51012|0.51012	D|D	0.9999|0.9999	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.48647|0.48647	-0.9017|-0.9017	9|5	.|.	.|.	.|.	-32.6994|-32.6994	9.2908|9.2908	0.37786|0.37786	0.422:0.0:0.578:0.0|0.422:0.0:0.578:0.0	.|.	1807|.	Q4ZHG4|.	FNDC1_HUMAN|.	N|H	1807;1744|1703	ENSP00000297267:K1807N;ENSP00000342460:K1744N|.	.|.	K|N	+|+	3|1	2|0	FNDC1|FNDC1	159607242|159607242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	1.687000|1.687000	0.37680|0.37680	0.442000|0.442000	0.26555|0.26555	-0.242000|-0.242000	0.12053|0.12053	AAA|AAT		0.443	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		34	66	0	0	0	1	0	34	66					C	159687252	A	C	159687252	3	2	48	1	0	0	0	0	1	0	0	0	5976	11	1	4	5503	4	FNDC1	6	159687252	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2158366	159687252	11427815	1871	6339										
WTAP	9589	broad.mit.edu	37	chr6	160176595	160176595	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgtgggttcccgccacgtTcagaatggcttggactcaag	12	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:160176595T>G	ENST00000358372.4	+	8	2900	c.1143T>G	c.(1141-1143)gtT>gtG	p.V381V	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	381					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CCCGCCACGTTCAGAATGGCT	0.418																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(1141-1143)gtT>gtG		Wilms tumor 1 associated protein							72	76	75					6																	160176595		2203	4300	6503	SO:0001819	synonymous_variant	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160176595T>G	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.1143T>G	6.37:g.160176595T>G			Somatic				SOD2_ENST00000546087.1_Intron	p.V381V	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	WXS	Illumina GAIIx	Phase_I	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	8	2900	+		Breast(66;0.000776)|Ovarian(120;0.0303)	381					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Silent	SNP	ENST00000358372.4	37	c.1143T>G	CCDS5266.1																																																																																				0.418	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		13	78	0	0	0	1	0	13	78					G	160176595	T	G	160176595	2	3	48	1	0	0	0	0	0	0	0	1	17424	1770	62	4		4	WTAP	6	160176595	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	489343	160176595	10938472	1872	6340										
TCP1	6950	broad.mit.edu	37	chr6	160201557	160201557	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caacattgcagcttcaaaagTttcttcaccttccaaattgg	5	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:160201557T>C	ENST00000321394.7	-	9	1295	c.1015A>G	c.(1015-1017)Act>Gct	p.T339A	SNORA20_ENST00000384662.1_RNA|TCP1_ENST00000544255.1_Missense_Mutation_p.T115A|TCP1_ENST00000392168.2_Missense_Mutation_p.T184A|TCP1_ENST00000420894.2_Missense_Mutation_p.T339A	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	339					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GCTTCAAAAGTTTCTTCACCT	0.373																																						ENST00000321394.7																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10						c.(1015-1017)Act>Gct		t-complex 1							112	112	112					6																	160201557		2203	4300	6503	SO:0001583	missense	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160201557T>C	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"Heat Shock Proteins / Chaperonins"	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.1015A>G	6.37:g.160201557T>C	ENSP00000317334:p.Thr339Ala		Somatic				TCP1_ENST00000420894.2_Missense_Mutation_p.T339A|TCP1_ENST00000544255.1_Missense_Mutation_p.T115A|TCP1_ENST00000392168.2_Missense_Mutation_p.T184A	p.T339A	NM_030752.2	NP_110379.2	WXS	Illumina GAIIx	Phase_I	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	9	1295	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	339					E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	ENST00000321394.7	37	c.1015A>G	CCDS5269.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185527	0.57909	.	.	ENSG00000120438	ENST00000321394;ENST00000544255;ENST00000420894;ENST00000392168;ENST00000539756	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.76	5.76	0.90799	.	0.084027	0.85682	D	0.000000	T	0.36386	0.0965	N	0.17723	0.515	0.54753	D	0.999989	B;B	0.06786	0.001;0.0	B;B	0.24974	0.006;0.057	T	0.24621	-1.0155	10	0.35671	T	0.21	-42.7854	16.3634	0.83296	0.0:0.0:0.0:1.0	.	339;339	E7ERF2;P17987	.;TCPA_HUMAN	A	339;115;339;184;137	ENSP00000317334:T339A;ENSP00000439447:T115A;ENSP00000390159:T339A;ENSP00000376008:T184A;ENSP00000441345:T137A	ENSP00000317334:T339A	T	-	1	0	TCP1	160121547	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.493000	0.81493	2.324000	0.78689	0.533000	0.62120	ACT		0.373	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752		39	70	0	0	0	1	0	39	70					C	160201557	T	C	160201557	3	2	48	1	0	0	0	0	1	0	0	0	15724	1725	60	4	671	4	TCP1	6	160201557	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	24962	160201557	10913510	1873	6341										
PNLDC1	154197	broad.mit.edu	37	chr6	160240086	160240086	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctaccataagtttcagaatCtctgcaagtttgatgtcagg	8	8	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:160240086C>T	ENST00000610273.1	+	17	1504	c.1333C>T	c.(1333-1335)Ctc>Ttc	p.L445F	PNLDC1_ENST00000392167.3_Missense_Mutation_p.L456F	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	445						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.L445I(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)		GTTTCAGAATCTCTGCAAGTT	0.517																																						ENST00000275275.5																			1	Substitution - Missense(1)	p.L445I(1)	large_intestine(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.(1333-1335)Ctc>Ttc		poly(A)-specific ribonuclease (PARN)-like domain containing 1							103	99	101					6																	160240086		2203	4300	6503	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160240086C>T	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.1333C>T	6.37:g.160240086C>T	ENSP00000476448:p.Leu445Phe		Somatic				PNLDC1_ENST00000392167.3_Missense_Mutation_p.L456F	p.L445F	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)	17	1504	+		Breast(66;0.00519)|Ovarian(120;0.123)	445					Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.1333C>T	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	C	0.961	-0.703183	0.03255	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	4.57	2.78	0.32641	.	0.137105	0.31102	N	0.008250	T	0.12518	0.0304	L	0.27053	0.805	0.30955	N	0.724241	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.003	T	0.16600	-1.0397	9	0.25106	T	0.35	.	5.9447	0.19211	0.0:0.6722:0.158:0.1698	.	456;445	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	F	445;456	.	ENSP00000275275:L445F	L	+	1	0	PNLDC1	160160076	0.009000	0.17119	0.997000	0.53966	0.057000	0.15508	0.207000	0.17395	0.537000	0.28751	-0.379000	0.06801	CTC		0.517	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		31	52	0	0	0	1	0	31	52					T	160240086	C	T	160240086	3	4	48	1	0	0	0	0	1	0	0	0	12157	913	32	3	1395	3	PNLDC1	6	160240086	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	38529	160240086	10874981	1874	6342										
SLC22A3	6581	broad.mit.edu	37	chr6	160831867	160831867	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgggaaatacctctcatcaAattactcagaggtaatttct	6	8	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:160831867A>C	ENST00000275300.2	+	5	1116	c.964A>C	c.(964-966)Aat>Cat	p.N322H	SLC22A3_ENST00000392145.1_Missense_Mutation_p.N322H	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	322					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)	CCTCTCATCAAATTACTCAGA	0.383																																						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.(964-966)Aat>Cat		solute carrier family 22 (organic cation transporter), member 3							48	47	47					6																	160831867		2203	4300	6503	SO:0001583	missense	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160831867A>C	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.964A>C	6.37:g.160831867A>C	ENSP00000275300:p.Asn322His		Somatic				SLC22A3_ENST00000275300.2_Missense_Mutation_p.N322H	p.N322H			WXS	Illumina GAIIx	Phase_I	O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	5	991	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	322					Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	c.964A>C	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	A	1.036	-0.680243	0.03353	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.74209	-0.82;-0.82	5.47	2.93	0.34026	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.877156	0.10252	N	0.696996	T	0.34745	0.0908	N	0.20530	0.585	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.18681	-1.0329	10	0.42905	T	0.14	.	2.496	0.04621	0.5803:0.2039:0.0852:0.1307	.	322	O75751	S22A3_HUMAN	H	322	ENSP00000275300:N322H;ENSP00000375989:N322H	ENSP00000275300:N322H	N	+	1	0	SLC22A3	160751857	0.003000	0.15002	0.011000	0.14972	0.073000	0.16967	1.579000	0.36536	1.034000	0.39945	-0.256000	0.11100	AAT		0.383	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		10	15	0	0	0	1	0	10	15					C	160831867	A	C	160831867	3	2	48	1	0	0	0	0	1	0	0	0	14470	14	1	4	982	4	SLC22A3	6	160831867	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	591781	160831867	10283200	1875	6343										
LPA	4018	broad.mit.edu	37	chr6	161027561	161027561	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggggtaatagttggaggcgcGacggcagtcccttctgcgtc	16	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:161027561G>A	ENST00000316300.5	-	17	2777	c.2733C>T	c.(2731-2733)gtC>gtT	p.V911V	LPA_ENST00000447678.1_Silent_p.V911V			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3419	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTGGAGGCGCGACGGCAGTCC	0.542																																						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.(2731-2733)gtC>gtT		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						104	109	107					6																	161027561		2064	4256	6320	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.chr6:161027561G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2733C>T	6.37:g.161027561G>A			Somatic				LPA_ENST00000316300.5_Silent_p.V911V	p.V911V	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)	18	2853	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3419			Kringle 8.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.2733C>T	CCDS43523.1																																																																																				0.542	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		53	98	0	0	0	1	0	53	98					A	161027561	G	A	161027561	2	1	48	1	0	0	0	0	0	0	0	1	8912	1045	37	1		1	LPA	6	161027561	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	195694	161027561	10087506	1876	6344										
MAP3K4	4216	broad.mit.edu	37	chr6	161470911	161470911	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtagacaaagcactgaagcAgatggggttaagaaagttaa	12	4	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:161470911A>C	ENST00000392142.4	+	3	1755	c.1607A>C	c.(1606-1608)cAg>cCg	p.Q536P	MAP3K4_ENST00000348824.7_Missense_Mutation_p.Q536P|MAP3K4_ENST00000366919.2_Missense_Mutation_p.Q536P|MAP3K4_ENST00000366920.2_Missense_Mutation_p.Q536P	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	536					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)		GCACTGAAGCAGATGGGGTTA	0.438																																						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.(1606-1608)cAg>cCg		mitogen-activated protein kinase kinase kinase 4							79	84	82					6																	161470911		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.chr6:161470911A>C	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.1607A>C	6.37:g.161470911A>C	ENSP00000375986:p.Gln536Pro		Somatic				MAP3K4_ENST00000366919.2_Missense_Mutation_p.Q536P|MAP3K4_ENST00000366920.2_Missense_Mutation_p.Q536P|MAP3K4_ENST00000348824.7_Missense_Mutation_p.Q536P	p.Q536P	NM_005922.2	NP_005913.2	WXS	Illumina GAIIx	Phase_I	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	1755	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	536					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.1607A>C	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.564564	0.65651	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.32194	0.0821	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.993	T	0.03524	-1.1028	10	0.25106	T	0.35	-28.5564	15.774	0.78193	1.0:0.0:0.0:0.0	.	536;536	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	P	536	ENSP00000355886:Q536P;ENSP00000375986:Q536P;ENSP00000355887:Q536P;ENSP00000297332:Q536P	ENSP00000297332:Q536P	Q	+	2	0	MAP3K4	161390901	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.930000	0.92872	2.124000	0.65301	0.533000	0.62120	CAG		0.438	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			11	56	0	0	0	1	0	11	56					C	161470911	A	C	161470911	3	2	48	1	0	0	0	0	1	0	0	0	9261	188	7	4	1617	4	MAP3K4	6	161470911	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	443350	161470911	9644156	1877	6345										
MAP3K4	4216	broad.mit.edu	37	chr6	161530819	161530819	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcttcatggagtactgcgaTgaggggactttagaagaggt	14	5	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:161530819T>C	ENST00000392142.4	+	23	4417	c.4269T>C	c.(4267-4269)gaT>gaC	p.D1423D	MAP3K4_ENST00000348824.7_Silent_p.D1369D|MAP3K4_ENST00000366919.2_Silent_p.D1373D|MAP3K4_ENST00000366920.2_Silent_p.D1419D	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1423	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)		AGTACTGCGATGAGGGGACTT	0.458																																						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.(4267-4269)gaT>gaC		mitogen-activated protein kinase kinase kinase 4							140	125	130					6																	161530819		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:161530819T>C	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.4269T>C	6.37:g.161530819T>C			Somatic				MAP3K4_ENST00000366919.2_Silent_p.D1373D|MAP3K4_ENST00000366920.2_Silent_p.D1419D|MAP3K4_ENST00000348824.7_Silent_p.D1369D	p.D1423D	NM_005922.2	NP_005913.2	WXS	Illumina GAIIx	Phase_I	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	23	4417	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1423			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	c.4269T>C	CCDS34565.1																																																																																				0.458	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			17	58	0	0	0	1	0	17	58					C	161530819	T	C	161530819	2	2	48	1	0	0	0	0	0	0	0	1	9261	1461	51	4		4	MAP3K4	6	161530819	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	59908	161530819	9584248	1878	6346										
RPS6KA2	6196	broad.mit.edu	37	chr6	166902356	166902356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggttccgtttgaagagagctCgcagcaaactctgtgcctcc	11	12	1	2	rs200011293		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:166902356C>T	ENST00000265678.4	-	10	1095	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R299Q|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R202Q|RPS6KA2_ENST00000366863.2_Missense_Mutation_p.R137Q|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.R316Q|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R202Q	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	291	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GAAGAGAGCTCGCAGCAAACT	0.562													C|||	1	0.000199681	0	0	5008	,	,		16151	0		0.001	False		,,,				2504	0					ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(946-948)cGa>cAa		ribosomal protein S6 kinase, 90kDa, polypeptide 2							55	53	54					6																	166902356		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166902356C>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"ribosomal protein S6 kinase, 90kD, polypeptide 2"			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.872G>A	6.37:g.166902356C>T	ENSP00000265678:p.Arg291Gln		Somatic				RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R299Q|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R202Q|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R202Q|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.R291Q|RPS6KA2_ENST00000366863.2_Missense_Mutation_p.R137Q	p.R316Q			WXS	Illumina GAIIx	Phase_I	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	12	1287	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	291			Protein kinase 1.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.947G>A	CCDS5294.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.92	3.725899	0.69074	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189;ENST00000366863	T;T;T;T;T;T	0.65364	0.63;0.63;0.63;0.63;0.63;-0.15	4.39	4.39	0.52855	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	0.29223	0.0727	N	0.10618	0.005	0.80722	D	1	P;P;P	0.52842	0.956;0.721;0.866	B;B;B	0.41510	0.293;0.124;0.359	T	0.19418	-1.0306	10	0.31617	T	0.26	.	16.3089	0.82862	0.0:1.0:0.0:0.0	.	316;299;291	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	Q	291;316;299;202;202;137	ENSP00000265678:R291Q;ENSP00000422435:R316Q;ENSP00000427015:R299Q;ENSP00000422484:R202Q;ENSP00000386050:R202Q;ENSP00000355828:R137Q	ENSP00000265678:R291Q	R	-	2	0	RPS6KA2	166822346	1.000000	0.71417	0.959000	0.39883	0.791000	0.44710	7.159000	0.77483	2.120000	0.65058	0.563000	0.77884	CGA		0.562	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		7	17	0	0	0	1	0	7	17					T	166902356	C	T	166902356	3	4	48	1	0	0	0	0	1	0	0	0	13666	884	31	1	1377	1	RPS6KA2	6	166902356	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5371537	166902356	4212711	1879	6347										
TTLL2	83887	broad.mit.edu	37	chr6	167755167	167755167	+	Nonstop_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgaataagcaacattcctaAgtggtaaaaaatcaaatcaa	5	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:167755167A>C	ENST00000239587.5	+	3	1867	c.1779A>C	c.(1777-1779)taA>taC	p.*593Y		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	0					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AACATTCCTAAGTGGTAAAAA	0.373																																						ENST00000239587.5																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1777-1779)taA>taC		tubulin tyrosine ligase-like family, member 2							21	23	23					6																	167755167		2194	4292	6486	SO:0001578	stop_lost	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167755167A>C	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"Tubulin tyrosine ligase-like family"	21211	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 104"	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1779A>C	6.37:g.167755167A>C	ENSP00000239587:p.*593Tyrext*10		Somatic					p.*593Y	NM_031949.4	NP_114155.4	WXS	Illumina GAIIx	Phase_I	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	1867	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	0					B2RB11|B3KS77|Q7Z6R8|Q86X22	Nonstop_Mutation	SNP	ENST00000239587.5	37	c.1779A>C	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	A	1.535	-0.543347	0.04053	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	.	.	.	4.04	-1.64	0.08318	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1103	0.03701	0.2499:0.4328:0.1766:0.1407	.	.	.	.	Y	593;520	.	.	X	+	3	2	TTLL2	167675157	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.381000	0.20619	-0.499000	0.06623	-0.669000	0.03829	TAA		0.373	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		4	25	0	0	0	1	0	4	25					C	167755167	A	C	167755167	4	2	48	1	0	0	0	0	0	0	0	0	16742	79	3	4	1789	4	TTLL2	6	167755167	Nonstop_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	852811	167755167	3359900	1880	6348										
FRMD1	79981	broad.mit.edu	37	chr6	168468077	168468077	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctttcttccaatcttttgaGaagtacttgctgagcttttg	7	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:168468077G>T	ENST00000283309.6	-	3	418	c.354C>A	c.(352-354)ttC>ttA	p.F118L	FRMD1_ENST00000440994.2_Missense_Mutation_p.F50L|FRMD1_ENST00000537786.1_5'UTR|FRMD1_ENST00000432403.1_5'Flank	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	118	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					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)		AATCTTTTGAGAAGTACTTGC	0.478																																					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.(352-354)ttC>ttA		FERM domain containing 1							91	108	103					6																	168468077		2203	4300	6503	SO:0001583	missense	79981					cytoskeleton	binding	g.chr6:168468077G>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.354C>A	6.37:g.168468077G>T	ENSP00000283309:p.Phe118Leu		Somatic				FRMD1_ENST00000440994.2_Missense_Mutation_p.F50L|FRMD1_ENST00000537786.1_5'UTR	p.F118L	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)	3	418	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	118			FERM.		B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	c.354C>A	CCDS5306.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754868	0.31046	.	.	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000511714	T;T;T	0.74632	-0.86;-0.86;-0.86	2.8	1.76	0.24704	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.64402	U	0.000007	T	0.54822	0.1882	L	0.48986	1.54	0.80722	D	1	P;B;B	0.51449	0.945;0.002;0.002	P;B;B	0.53006	0.715;0.019;0.011	T	0.65113	-0.6247	10	0.02654	T	1	.	7.6308	0.28238	0.2438:0.0:0.7562:0.0	.	30;118;50	B7Z8G9;Q8N878;Q8N878-2	.;FRMD1_HUMAN;.	L	118;50;160	ENSP00000283309:F118L;ENSP00000414115:F50L;ENSP00000424439:F160L	ENSP00000283309:F118L	F	-	3	2	FRMD1	168210926	1.000000	0.71417	0.990000	0.47175	0.223000	0.24884	1.388000	0.34442	1.410000	0.46936	0.298000	0.19748	TTC		0.478	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919		16	47	1	0	1.5739e-10	1	1.93697e-10	16	47					T	168468077	G	T	168468077	3	4	48	1	0	0	0	0	1	0	0	0	6057	933	33	2	1331	2	FRMD1	6	168468077	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	712910	168468077	2646990	1881	6349										
THBS2	7058	broad.mit.edu	37	chr6	169629697	169629697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcacaccgtcattgtcatcGtcatcatcacaggcatcgcc	7	15	6	0	rs148360643		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:169629697G>A	ENST00000366787.3	-	15	2478	c.2229C>T	c.(2227-2229)gaC>gaT	p.D743D	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	743					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CATTGTCATCGTCATCATCAC	0.547													G|||	1	0.000199681	0	0	5008	,	,		18965	0		0	False		,,,				2504	0.001				Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(2227-2229)gaC>gaT		thrombospondin 2		G		1,4405	2.1+/-5.4	0,1,2202	213	184	194		2229	-3.9	0.5	6	dbSNP_134	194	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	THBS2	NM_003247.2		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		743/1173	169629697	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169629697G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2229C>T	6.37:g.169629697G>A			Somatic				XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.D743D	NM_003247.2	NP_003238.2	WXS	Illumina GAIIx	Phase_I	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	15	2478	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	743					A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.2229C>T	CCDS34574.1																																																																																				0.547	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		32	64	0	0	0	1	0	32	64					A	169629697	G	A	169629697	2	1	48	1	0	0	0	0	0	0	0	1	15869	1136	40	1		1	THBS2	6	169629697	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1161620	169629697	1485370	1882	6350										
FAM120B	84498	broad.mit.edu	37	chr6	170627407	170627407	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atatcttttaccaggacaaaAatctccatggtttttccaaa	4	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:170627407A>G	ENST00000476287.1	+	2	1037	c.929A>G	c.(928-930)aAa>aGa	p.K310R	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.K333R|FAM120B_ENST00000540480.1_Missense_Mutation_p.K322R	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	310					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)		CCAGGACAAAAATCTCCATGG	0.373																																						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.(928-930)aAa>aGa		family with sequence similarity 120B							54	63	60					6																	170627407		2198	4298	6496	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627407A>G	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.929A>G	6.37:g.170627407A>G	ENSP00000417970:p.Lys310Arg		Somatic				FAM120B_ENST00000540480.1_Missense_Mutation_p.K322R|FAM120B_ENST00000537664.1_Missense_Mutation_p.K333R|FAM120B_ENST00000252510.9_Intron	p.K310R	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	1037	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	310					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.929A>G	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.926240	0.34002	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.08634	3.07;3.07;3.08	5.36	-0.205	0.13196	.	1.074670	0.06985	N	0.820553	T	0.02533	0.0077	L	0.60455	1.87	0.20975	N	0.999817	B;B	0.15141	0.012;0.012	B;B	0.13407	0.009;0.009	T	0.45775	-0.9238	10	0.39692	T	0.17	-4.2208	2.585	0.04828	0.4643:0.2398:0.065:0.2309	.	310;310	Q96EK7;F2Z2E1	F120B_HUMAN;.	R	322;333;310	ENSP00000444125:K322R;ENSP00000440125:K333R;ENSP00000417970:K310R	ENSP00000436640:K310R	K	+	2	0	FAM120B	170469332	0.046000	0.20272	0.790000	0.31976	0.887000	0.51463	0.057000	0.14279	-0.185000	0.10550	0.528000	0.53228	AAA		0.373	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		35	69	0	0	0	1	0	35	69					G	170627407	A	G	170627407	3	3	48	1	0	0	0	0	1	0	0	0	5422	14	1	4	931	4	FAM120B	6	170627407	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	997710	170627407	487660	1883	6351										
C7orf50	84310	broad.mit.edu	37	chr7	1037352	1037352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catccagctcccgcatcaggGcttccgccttctgcaccgtc	8	19	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:1037352G>A	ENST00000397098.3	-	5	1420	c.494C>T	c.(493-495)gCc>gTc	p.A165V	C7orf50_ENST00000357429.6_Missense_Mutation_p.A165V|C7orf50_ENST00000397100.2_Missense_Mutation_p.A165V|C7orf50_ENST00000488073.1_5'UTR			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	165							poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CCGCATCAGGGCTTCCGCCTT	0.677																																						ENST00000397098.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(493-495)gCc>gTc		chromosome 7 open reading frame 50							35	40	38					7																	1037352		2203	4297	6500	SO:0001583	missense	84310						protein binding	g.chr7:1037352G>A	BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.494C>T	7.37:g.1037352G>A	ENSP00000380286:p.Ala165Val		Somatic				C7orf50_ENST00000397100.2_Missense_Mutation_p.A165V|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Missense_Mutation_p.A165V	p.A165V			WXS	Illumina GAIIx	Phase_I	Q9BRJ6	CG050_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)	5	1420	-		Ovarian(82;0.0779)	165						Missense_Mutation	SNP	ENST00000397098.3	37	c.494C>T	CCDS5320.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843162	0.32606	.	.	ENSG00000146540	ENST00000397100;ENST00000397098;ENST00000357429;ENST00000444428;ENST00000491163	.	.	.	5.61	4.73	0.59995	.	0.305925	0.29602	N	0.011683	T	0.38374	0.1038	L	0.43152	1.355	0.09310	N	0.999995	P	0.35944	0.529	B	0.39876	0.312	T	0.21484	-1.0244	9	0.29301	T	0.29	-9.2254	12.6862	0.56949	0.081:0.0:0.919:0.0	.	165	Q9BRJ6	CG050_HUMAN	V	165;165;165;133;165	.	ENSP00000350011:A165V	A	-	2	0	C7orf50	1003878	0.959000	0.32827	0.313000	0.25210	0.081000	0.17604	5.283000	0.65621	1.374000	0.46228	0.655000	0.94253	GCC		0.677	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322817.3	NM_032350		25	33	0	0	0	1	0	25	33					A	1037352	G	A	1037352	3	1	48	1	0	0	0	0	1	0	0	0	2401	1203	42	3	94	3	C7orf50	7	1037352	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08		1037352	158101311	1884	6352										
CARD11	84433	broad.mit.edu	37	chr7	2966401	2966401	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctaaggcgtcaaacccgccGctgtcattgtcttcttcgac	8	14	5	0	rs138401482		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:2966401G>A	ENST00000396946.4	-	14	2182	c.1779C>T	c.(1777-1779)agC>agT	p.S593S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	593					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)		CAAACCCGCCGCTGTCATTGT	0.582			Mis		DLBCL								G|||	1	0.000199681	0	0	5008	,	,		20495	0.001		0	False		,,,				2504	0					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.(1777-1779)agC>agT		caspase recruitment domain family, member 11		G		1,4405	2.1+/-5.4	0,1,2202	84	65	72		1779	-2.2	0.4	7	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous	CARD11	NM_032415.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		593/1155	2966401	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2966401G>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.1779C>T	7.37:g.2966401G>A			Somatic					p.S593S	NM_032415.4	NP_115791.3	WXS	Illumina GAIIx	Phase_I	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	14	2182	-		Ovarian(82;0.0115)	593					A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.1779C>T	CCDS5336.2																																																																																				0.582	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		4	31	0	0	0	1	0	4	31					A	2966401	G	A	2966401	2	1	48	1	0	0	0	0	0	0	0	1	2647	1078	38	1		1	CARD11	7	2966401	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1929049	2966401	156172262	1885	6353										
PAPOLB	56903	broad.mit.edu	37	chr7	4901062	4901062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgaggtgaaaaagtcgcttCgatccacatgacttggtgca	11	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:4901062C>T	ENST00000404991.1	-	1	563	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	126					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)		AAAGTCGCTTCGATCCACATG	0.438																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(376-378)cGa>cAa		poly(A) polymerase beta (testis specific)							78	79	78					7																	4901062		2104	4261	6365	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4901062C>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.377G>A	7.37:g.4901062C>T	ENSP00000384700:p.Arg126Gln		Somatic				RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	p.R126Q	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	563	-		Ovarian(82;0.0175)	126					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.377G>A		.	.	.	.	.	.	.	.	.	.	C	13.62	2.292257	0.40594	.	.	ENSG00000218823	ENST00000404991	.	.	.	3.89	3.01	0.34805	.	.	.	.	.	T	0.82250	0.4996	H	0.94808	3.585	0.40607	D	0.981635	D	0.89917	1.0	D	0.97110	1.0	D	0.85324	0.1086	8	0.87932	D	0	.	9.7494	0.40466	0.0:0.8957:0.0:0.1043	.	127	A4D1Z6	.	Q	126	.	ENSP00000384700:R126Q	R	-	2	0	PAPOLB	4867588	1.000000	0.71417	0.014000	0.15608	0.098000	0.18820	5.769000	0.68865	1.240000	0.43803	0.585000	0.79938	CGA		0.438	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		13	20	0	0	0	1	0	13	20					T	4901062	C	T	4901062	3	4	48	1	0	0	0	0	1	0	0	0	11439	884	31	1	1537	1	PAPOLB	7	4901062	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1934661	4901062	154237601	1886	6354										
SLC29A4	222962	broad.mit.edu	37	chr7	5338985	5338985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggcctcgagtctgagatccGccactgcatcctgggcgagt	13	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:5338985G>A	ENST00000396872.3	+	9	1297	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	SLC29A4_ENST00000297195.4_Missense_Mutation_p.R379H|SLC29A4_ENST00000406453.3_Missense_Mutation_p.R365H|SLC29A4_ENST00000439491.2_3'UTR			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	379					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	TCTGAGATCCGCCACTGCATC	0.642																																						ENST00000396872.2																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(1135-1137)cGc>cAc		solute carrier family 29 (equilibrative nucleoside transporter), member 4							65	45	52					7																	5338985		2203	4300	6503	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5338985G>A	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1136G>A	7.37:g.5338985G>A	ENSP00000380081:p.Arg379His		Somatic				SLC29A4_ENST00000297195.4_Missense_Mutation_p.R379H|SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000406453.3_Missense_Mutation_p.R365H	p.R379H	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	WXS	Illumina GAIIx	Phase_I	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	9	1297	+		Ovarian(82;0.0175)	379					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.1136G>A	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	.	11.99	1.803924	0.31869	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	T;T;T	0.62788	0.0;0.0;0.0	4.48	3.58	0.41010	Major facilitator superfamily domain, general substrate transporter (1);	0.330865	0.28388	N	0.015521	T	0.39332	0.1074	N	0.11560	0.145	0.38409	D	0.945867	B;B	0.21309	0.054;0.028	B;B	0.12156	0.007;0.007	T	0.25467	-1.0131	10	0.42905	T	0.14	-8.5859	8.3825	0.32479	0.2055:0.0:0.7945:0.0	.	365;379	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	H	379;379;365	ENSP00000380081:R379H;ENSP00000297195:R379H;ENSP00000385845:R365H	ENSP00000297195:R379H	R	+	2	0	SLC29A4	5305511	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.396000	0.59684	0.862000	0.35528	0.431000	0.28591	CGC		0.642	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		7	39	0	0	0	1	0	7	39					A	5338985	G	A	5338985	3	1	48	1	0	0	0	0	1	0	0	0	14552	1087	38	1	1166	1	SLC29A4	7	5338985	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	437923	5338985	153799678	1887	6355										
ACTB	60	broad.mit.edu	37	chr7	5568242	5568242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggcacagtgtgggtgacccCgtcaccggagtccatcacga	14	13	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:5568242C>T	ENST00000331789.5	-	4	663	c.472G>A	c.(472-474)Ggg>Agg	p.G158R	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	158					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)		TGGGTGACCCCGTCACCGGAG	0.607																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(472-474)Ggg>Agg		actin, beta							80	80	80					7																	5568242		2203	4300	6503	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568242C>T	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.472G>A	7.37:g.5568242C>T	ENSP00000349960:p.Gly158Arg		Somatic					p.G158R	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)	4	663	-		Ovarian(82;0.0606)	158					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.472G>A	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361158	0.61403	.	.	ENSG00000075624	ENST00000331789;ENST00000400179;ENST00000320713;ENST00000432588	D;D	0.98060	-4.69;-3.45	5.31	5.31	0.75309	.	0.104265	0.41605	D	0.000854	D	0.99124	0.9698	H	0.95043	3.615	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.99293	1.0899	10	0.87932	D	0	.	16.5292	0.84353	0.0:1.0:0.0:0.0	.	158	P60709	ACTB_HUMAN	R	158;130;77;158	ENSP00000349960:G158R;ENSP00000407473:G158R	ENSP00000440549:G77R	G	-	1	0	ACTB	5534768	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	7.533000	0.81994	2.500000	0.84329	0.650000	0.86243	GGG		0.607	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		42	113	0	0	0	1	0	42	113					T	5568242	C	T	5568242	3	4	48	1	0	0	0	0	1	0	0	0	193	652	23	1	667	1	ACTB	7	5568242	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	229257	5568242	153570421	1888	6356										
AIMP2	7965	broad.mit.edu	37	chr7	6054938	6054938	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atccaagcggatgagcccacGactttaaccaccaatgcgct	8	14	0	1	rs538013036		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:6054938G>A	ENST00000223029.3	+	2	416	c.297G>A	c.(295-297)acG>acA	p.T99T	AIMP2_ENST00000395236.2_Intron|SNORA42_ENST00000384488.1_RNA|AIMP2_ENST00000400479.2_Silent_p.T21T	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	99	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						ATGAGCCCACGACTTTAACCA	0.463																																						ENST00000223029.3																			0				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(295-297)acG>acA		aminoacyl tRNA synthetase complex-interacting multifunctional protein 2							109	97	101					7																	6054938		2203	4300	6503	SO:0001819	synonymous_variant	7965				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding	g.chr7:6054938G>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.297G>A	7.37:g.6054938G>A			Somatic				AIMP2_ENST00000400479.2_Silent_p.T21T|AIMP2_ENST00000395236.2_Intron	p.T99T	NM_006303.3	NP_006294.2	WXS	Illumina GAIIx	Phase_I	Q13155	AIMP2_HUMAN			2	416	+			99		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.297G>A	CCDS5344.1																																																																																				0.463	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242834.2	NM_006303		21	48	0	0	0	1	0	21	48					A	6054938	G	A	6054938	2	1	48	1	0	0	0	0	0	0	0	1	434	1045	37	1		1	AIMP2	7	6054938	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	486696	6054938	153083725	1889	6357										
C1GALT1	56913	broad.mit.edu	37	chr7	7273978	7273978	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctaaatcctggctgaattttTtaaccttcctctgtggatca	6	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:7273978T>G	ENST00000223122.3	+	1	90	c.28T>G	c.(28-30)Tta>Gta	p.L10V	C1GALT1_ENST00000402468.3_Missense_Mutation_p.L10V|C1GALT1_ENST00000436587.2_Missense_Mutation_p.L10V			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	10					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		GCTGAATTTTTTAACCTTCCT	0.363																																						ENST00000436587.2																			0				breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(28-30)Tta>Gta		core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1							85	83	84					7																	7273978		2203	4300	6503	SO:0001583	missense	56913				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding	g.chr7:7273978T>G	AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"Beta 3-glycosyltransferases"	24337	protein-coding gene	gene with protein product	"core 1 beta3-Gal-T"	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.28T>G	7.37:g.7273978T>G	ENSP00000223122:p.Leu10Val		Somatic				C1GALT1_ENST00000402468.3_Missense_Mutation_p.L10V|C1GALT1_ENST00000223122.2_Missense_Mutation_p.L10V	p.L10V	NM_020156.3	NP_064541.1	WXS	Illumina GAIIx	Phase_I	Q9NS00	C1GLT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	2	251	+			10					Q96QH4|Q9BTU1	Missense_Mutation	SNP	ENST00000223122.3	37	c.28T>G	CCDS5355.1	.	.	.	.	.	.	.	.	.	.	T	9.200	1.028251	0.19512	.	.	ENSG00000106392	ENST00000429911;ENST00000419721;ENST00000436587;ENST00000223122;ENST00000402468	T;T;T	0.59083	0.29;0.29;0.29	4.17	3.01	0.34805	.	0.000000	0.51477	D	0.000090	T	0.50871	0.1641	N	0.24115	0.695	0.30378	N	0.782279	B;D;B	0.65815	0.063;0.995;0.059	B;P;B	0.61800	0.061;0.894;0.038	T	0.48896	-0.8994	10	0.29301	T	0.29	-9.0435	3.1313	0.06424	0.0:0.2536:0.2208:0.5256	.	10;10;10	Q9NS00-2;C9JDX1;Q9NS00	.;.;C1GLT_HUMAN	V	10	ENSP00000389176:L10V;ENSP00000223122:L10V;ENSP00000384550:L10V	ENSP00000223122:L10V	L	+	1	2	C1GALT1	7240503	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.057000	0.30492	0.939000	0.37446	0.383000	0.25322	TTA		0.363	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	NM_020156		15	28	0	0	0	1	0	15	28					G	7273978	T	G	7273978	3	3	48	1	0	0	0	0	1	0	0	0	1954	1838	64	4	30	4	C1GALT1	7	7273978	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1219040	7273978	151864685	1890	6358										
THSD7A	221981	broad.mit.edu	37	chr7	11485733	11485733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacaagcctgccattttgatCgtagcatgccattgcttggt	9	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:11485733C>T	ENST00000423059.4	-	13	3270	c.3019G>A	c.(3019-3021)Gat>Aat	p.D1007N	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1007	TSP type-1 10. {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)		CCATTTTGATCGTAGCATGCC	0.423										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(3019-3021)Gat>Aat		thrombospondin, type I, domain containing 7A							316	293	301					7																	11485733		1953	4160	6113	SO:0001583	missense	221981					integral to membrane		g.chr7:11485733C>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.3019G>A	7.37:g.11485733C>T	ENSP00000406482:p.Asp1007Asn	HNSCC(18;0.044)	Somatic				AC004538.3_ENST00000445839.1_RNA	p.D1007N	NM_015204.2	NP_056019.1	WXS	Illumina GAIIx	Phase_I	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	13	3270	-			1007			TSP type-1 10.			Missense_Mutation	SNP	ENST00000423059.4	37	c.3019G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710707	0.68730	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59772	0.24	5.63	5.63	0.86233	.	0.084948	0.85682	D	0.000000	T	0.50274	0.1606	L	0.33485	1.01	0.58432	D	0.999995	B	0.32693	0.38	B	0.32762	0.152	T	0.42916	-0.9423	10	0.30078	T	0.28	.	19.6788	0.95950	0.0:1.0:0.0:0.0	.	1007	Q9UPZ6	THS7A_HUMAN	N	1007	ENSP00000406482:D1007N	ENSP00000262042:D1007N	D	-	1	0	THSD7A	11452258	1.000000	0.71417	0.765000	0.31456	0.846000	0.48090	4.937000	0.63513	2.653000	0.90120	0.650000	0.86243	GAT		0.423	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		59	111	0	0	0	1	0	59	111					T	11485733	C	T	11485733	3	4	48	1	0	0	0	0	1	0	0	0	15894	884	31	1	2014	1	THSD7A	7	11485733	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4211755	11485733	147652930	1891	6359										
ARL4A	10124	broad.mit.edu	37	chr7	12728459	12728459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttaaaagaagaaaaatgttgCggcaacagaaaaagaaaaga	9	3	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:12728459C>T	ENST00000396663.1	+	2	1062	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	ARL4A_ENST00000396662.1_Missense_Mutation_p.R194W|ARL4A_ENST00000356797.3_Missense_Mutation_p.R194W|ARL4A_ENST00000404894.1_Missense_Mutation_p.R194W|ARL4A_ENST00000396664.2_Missense_Mutation_p.R194W	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	194					brown fat cell differentiation (GO:0050873)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		AAAAATGTTGCGGCAACAGAA	0.378																																						ENST00000396663.1																			0				NS(2)|lung(3)|ovary(1)	6						c.(580-582)Cgg>Tgg		ADP-ribosylation factor-like 4A							43	46	45					7																	12728459		2191	4283	6474	SO:0001583	missense	10124				small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding	g.chr7:12728459C>T	U73960	CCDS5359.1	7p21.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000122644	ENSG00000122644		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	695	protein-coding gene	gene with protein product		604786	"ADP-ribosylation factor-like 4"	ARL4			Standard	NM_212460		Approved		uc003ssq.3	P40617	OTTHUMG00000023374	ENST00000396663.1:c.580C>T	7.37:g.12728459C>T	ENSP00000379898:p.Arg194Trp		Somatic				ARL4A_ENST00000356797.3_Missense_Mutation_p.R194W|ARL4A_ENST00000404894.1_Missense_Mutation_p.R194W|ARL4A_ENST00000396664.2_Missense_Mutation_p.R194W|ARL4A_ENST00000396662.1_Missense_Mutation_p.R194W	p.R194W	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	WXS	Illumina GAIIx	Phase_I	P40617	ARL4A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.176)	2	1062	+			194					A4D119|P80418|Q49AF5	Missense_Mutation	SNP	ENST00000396663.1	37	c.580C>T	CCDS5359.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891612	0.33442	.	.	ENSG00000122644	ENST00000396662;ENST00000356797;ENST00000396664;ENST00000396663;ENST00000404894	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	4.67	2.81	0.32909	.	0.000000	0.64402	D	0.000001	T	0.54062	0.1835	N	0.22421	0.69	0.46927	D	0.999259	P	0.45396	0.857	B	0.37422	0.249	T	0.59021	-0.7532	10	0.87932	D	0	.	12.703	0.57045	0.6172:0.3828:0.0:0.0	.	194	P40617	ARL4A_HUMAN	W	194	ENSP00000379897:R194W;ENSP00000349250:R194W;ENSP00000379899:R194W;ENSP00000379898:R194W;ENSP00000385236:R194W	ENSP00000349250:R194W	R	+	1	2	ARL4A	12694984	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.766000	0.38491	0.648000	0.30732	0.650000	0.86243	CGG		0.378	ARL4A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326036.1	NM_005738		18	41	0	0	0	1	0	18	41					T	12728459	C	T	12728459	3	4	48	1	0	0	0	0	1	0	0	0	936	759	27	1	582	1	ARL4A	7	12728459	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1242726	12728459	146410204	1892	6360										
ITGB8	3696	broad.mit.edu	37	chr7	20418911	20418911	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaccccgaaaggattcataAtcaatgcaggtatctagggt	9	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:20418911A>C	ENST00000222573.4	+	4	1310	c.626A>C	c.(625-627)aAt>aCt	p.N209T	ITGB8_ENST00000537992.1_Missense_Mutation_p.N74T|SNORD56_ENST00000363883.1_RNA	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	209	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AGGATTCATAATCAATGCAGG	0.328																																						ENST00000222573.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(625-627)aAt>aCt		integrin, beta 8							79	76	77					7																	20418911		2203	4300	6503	SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20418911A>C		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"Integrins"	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.626A>C	7.37:g.20418911A>C	ENSP00000222573:p.Asn209Thr		Somatic				ITGB8_ENST00000537992.1_Missense_Mutation_p.N74T	p.N209T	NM_002214.2	NP_002205.1	WXS	Illumina GAIIx	Phase_I	P26012	ITB8_HUMAN			4	1310	+			209			VWFA.		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.626A>C	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.727018	0.89390	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	D;D	0.98090	-4.71;-4.71	5.93	5.93	0.95920	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98554	0.9517	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	0.983;1.0	D;D	0.91635	0.973;0.999	D	0.99790	1.1031	10	0.72032	D	0.01	-24.236	16.3709	0.83357	1.0:0.0:0.0:0.0	.	209;209	P26012;Q9BUG9	ITB8_HUMAN;.	T	74;209	ENSP00000441561:N74T;ENSP00000222573:N209T	ENSP00000222573:N209T	N	+	2	0	ITGB8	20385436	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.470000	0.80973	2.261000	0.74972	0.528000	0.53228	AAT		0.328	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		13	19	0	0	0	1	0	13	19					C	20418911	A	C	20418911	3	2	48	1	0	0	0	0	1	0	0	0	7910	101	4	4	640	4	ITGB8	7	20418911	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	7690452	20418911	138719752	1893	6361										
ABCB5	340273	broad.mit.edu	37	chr7	20685489	20685489	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atagcctttagggcccaggaGaaagaacttcaaaggtcttt	10	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:20685489G>T	ENST00000404938.2	+	8	1441	c.789G>T	c.(787-789)gaG>gaT	p.E263D	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	263	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						GGGCCCAGGAGAAAGAACTTC	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.(787-789)gaG>gaT		ATP-binding cassette, sub-family B (MDR/TAP), member 5							138	130	133					7																	20685489		1568	3582	5150	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20685489G>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.789G>T	7.37:g.20685489G>T	ENSP00000384881:p.Glu263Asp		Somatic					p.E263D	NM_001163941.1	NP_001157413.1	WXS	Illumina GAIIx	Phase_I	Q2M3G0	ABCB5_HUMAN			8	1441	+			449			ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.789G>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977281	0.34848	.	.	ENSG00000004846	ENST00000404938	D	0.89939	-2.59	4.79	2.93	0.34026	.	.	.	.	.	T	0.81819	0.4903	L	0.35593	1.075	0.80722	D	1	B	0.06786	0.001	B	0.19666	0.026	T	0.74306	-0.3708	9	0.33940	T	0.23	.	9.2256	0.37405	0.1856:0.0:0.8144:0.0	.	263	A7BKA4	.	D	263	ENSP00000384881:E263D	ENSP00000384881:E263D	E	+	3	2	ABCB5	20652014	0.995000	0.38212	1.000000	0.80357	0.975000	0.68041	0.282000	0.18829	0.892000	0.36259	0.655000	0.94253	GAG		0.403	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		9	102	1	0	0.00448238	1	0.00465112	9	102					T	20685489	G	T	20685489	3	4	48	1	0	0	0	0	1	0	0	0	44	933	33	2	815	2	ABCB5	7	20685489	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	266578	20685489	138453174	1894	6362										
DNAH11	8701	broad.mit.edu	37	chr7	21646328	21646328	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcttggatttaatgcagaaAatccatacacagcgcttgat	7	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:21646328A>C	ENST00000409508.3	+	20	3860	c.3829A>C	c.(3829-3831)Aat>Cat	p.N1277H	DNAH11_ENST00000328843.6_Missense_Mutation_p.N1277H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1277	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAATGCAGAAAATCCATACAC	0.338									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.(3829-3831)Aat>Cat		dynein, axonemal, heavy chain 11							68	66	67					7																	21646328		1842	4108	5950	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.chr7:21646328A>C	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.3829A>C	7.37:g.21646328A>C	ENSP00000475939:p.Asn1277His		Somatic				DNAH11_ENST00000409508.3_Missense_Mutation_p.N1277H	p.N1277H			WXS	Illumina GAIIx	Phase_I	Q96DT5	DYH11_HUMAN			20	3860	+			1277			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3829A>C		.	.	.	.	.	.	.	.	.	.	A	12.69	2.012591	0.35511	.	.	ENSG00000105877	ENST00000328843	T	0.24908	1.83	5.46	1.49	0.22878	.	0.427068	0.26654	N	0.023184	T	0.23688	0.0573	.	.	.	0.24352	N	0.994914	D	0.56521	0.976	P	0.47744	0.556	T	0.08249	-1.0731	9	0.44086	T	0.13	.	6.007	0.19551	0.6764:0.0:0.0708:0.2529	.	1277	Q96DT5	DYH11_HUMAN	H	1277	ENSP00000330671:N1277H	ENSP00000330671:N1277H	N	+	1	0	DNAH11	21612853	0.995000	0.38212	0.902000	0.35471	0.955000	0.61496	1.327000	0.33746	0.344000	0.23847	-0.290000	0.09829	AAT		0.338	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	9	0	0	0	1	0	4	9					C	21646328	A	C	21646328	3	2	48	1	0	0	0	0	1	0	0	0	4601	14	1	4	3907	4	DNAH11	7	21646328	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	960839	21646328	137492335	1895	6363										
DNAH11	8701	broad.mit.edu	37	chr7	21675657	21675657	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgtctgttcagaagatattCgaatccagcttgtgaaagat	9	6	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:21675657C>T	ENST00000409508.3	+	26	4700	c.4669C>T	c.(4669-4671)Cga>Tga	p.R1557*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.R1562*|DNAH11_ENST00000465593.1_3'UTR	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1562	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAAGATATTCGAATCCAGCT	0.388									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(4684-4686)Cga>Tga		dynein, axonemal, heavy chain 11							85	80	81					7																	21675657		1865	4101	5966	SO:0001587	stop_gained	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.chr7:21675657C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4669C>T	7.37:g.21675657C>T	ENSP00000475939:p.Arg1557*		Somatic				DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000409508.3_Nonsense_Mutation_p.R1557*	p.R1562*			WXS	Illumina GAIIx	Phase_I	Q96DT5	DYH11_HUMAN			26	4715	+			1562			Stem (By similarity).		Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37	c.4684C>T		.	.	.	.	.	.	.	.	.	.	C	43	10.217168	0.99361	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.56	4.62	0.57501	.	0.154257	0.43919	D	0.000507	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2773	0.49174	0.3324:0.6676:0.0:0.0	.	.	.	.	X	1562	.	ENSP00000330671:R1562X	R	+	1	2	DNAH11	21642182	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.183000	0.32041	2.596000	0.87737	0.650000	0.86243	CGA		0.388	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	12	0	0	0	1	0	4	12					T	21675657	C	T	21675657	4	4	48	1	0	0	0	0	0	1	0	0	4601	876	31	1	4786	1	DNAH11	7	21675657	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	29329	21675657	137463006	1896	6364										
DNAH11	8701	broad.mit.edu	37	chr7	21747358	21747358	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acatatgttaacatgaaacaGaagccggtttggaatgactt	9	6	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:21747358G>A	ENST00000409508.3	+	40	6619	c.6588G>A	c.(6586-6588)caG>caA	p.Q2196Q	DNAH11_ENST00000328843.6_Silent_p.Q2203Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2203	AAA 2. {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						ACATGAAACAGAAGCCGGTTT	0.388									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(6607-6609)caG>caA		dynein, axonemal, heavy chain 11							74	71	72					7																	21747358		1849	4088	5937	SO:0001819	synonymous_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.chr7:21747358G>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.6588G>A	7.37:g.21747358G>A			Somatic				DNAH11_ENST00000409508.3_Silent_p.Q2196Q	p.Q2203Q			WXS	Illumina GAIIx	Phase_I	Q96DT5	DYH11_HUMAN			41	6640	+			2203			AAA 2 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.6609G>A																																																																																					0.388	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		9	23	0	0	0	1	0	9	23					A	21747358	G	A	21747358	2	1	48	1	0	0	0	0	0	0	0	1	4601	933	33	3		3	DNAH11	7	21747358	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	71701	21747358	137391305	1897	6365										
IGF2BP3	10643	broad.mit.edu	37	chr7	23387299	23387299	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgccttcaggagtagagagGatagtaatcgacttctcagc	12	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23387299G>A	ENST00000258729.3	-	7	1094	c.738C>T	c.(736-738)atC>atT	p.I246I		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	246	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				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)|translation (GO:0006412)	cytoplasm (GO:0005737)|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)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GAGTAGAGAGGATAGTAATCG	0.458																																						ENST00000258729.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(736-738)atC>atT		insulin-like growth factor 2 mRNA binding protein 3							105	99	101					7																	23387299		2203	4300	6503	SO:0001819	synonymous_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23387299G>A	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"RNA binding motif (RRM) containing"	28868	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 3", "cancer/testis antigen 98"	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.738C>T	7.37:g.23387299G>A			Somatic					p.I246I	NM_006547.2	NP_006538.2	WXS	Illumina GAIIx	Phase_I	O00425	IF2B3_HUMAN			7	1094	-			246			KH 1.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	c.738C>T	CCDS5382.1																																																																																				0.458	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		30	55	0	0	0	1	0	30	55					A	23387299	G	A	23387299	2	1	48	1	0	0	0	0	0	0	0	1	7584	1164	41	3		3	IGF2BP3	7	23387299	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1639941	23387299	135751364	1898	6366										
TRA2A	29896	broad.mit.edu	37	chr7	23547091	23547091	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggtgtgtgcgctctcttggTtatagaataatccacccgaa	10	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23547091T>C	ENST00000297071.4	-	5	805	c.589A>G	c.(589-591)Acc>Gcc	p.T197A	TRA2A_ENST00000392502.4_Missense_Mutation_p.T96A|TRA2A_ENST00000538367.1_Missense_Mutation_p.T96A|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	197	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GCTCTCTTGGTTATAGAATAA	0.418																																					Pancreas(121;2137 2973 46590)	ENST00000297071.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(589-591)Acc>Gcc		transformer 2 alpha homolog (Drosophila)							258	245	249					7																	23547091		2203	4300	6503	SO:0001583	missense	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23547091T>C	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"RNA binding motif (RRM) containing"	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.589A>G	7.37:g.23547091T>C	ENSP00000297071:p.Thr197Ala		Somatic				TRA2A_ENST00000538367.1_Missense_Mutation_p.T96A|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_Missense_Mutation_p.T96A	p.T197A	NM_013293.3	NP_037425.1	WXS	Illumina GAIIx	Phase_I	Q13595	TRA2A_HUMAN			5	805	-			197			RRM.		B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	c.589A>G	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.045616	0.93685	.	.	ENSG00000164548	ENST00000297071;ENST00000392502;ENST00000538367	T;T;T	0.74421	-0.84;-0.84;-0.84	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.82079	0.4959	L	0.55990	1.75	0.80722	D	1	D	0.59357	0.985	P	0.62089	0.898	D	0.83602	0.0129	10	0.62326	D	0.03	-3.9083	15.7107	0.77626	0.0:0.0:0.0:1.0	.	197	Q13595	TRA2A_HUMAN	A	197;96;96	ENSP00000297071:T197A;ENSP00000376290:T96A;ENSP00000441116:T96A	ENSP00000297071:T197A	T	-	1	0	TRA2A	23513616	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.011000	0.88624	2.115000	0.64714	0.529000	0.55759	ACC		0.418	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		28	72	0	0	0	1	0	28	72					C	23547091	T	C	23547091	3	2	48	1	0	0	0	0	1	0	0	0	16448	1725	60	4	275	4	TRA2A	7	23547091	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	159792	23547091	135591572	1899	6367										
TRA2A	29896	broad.mit.edu	37	chr7	23556145	23556145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagaatgtctccttgacctcGacctttgagagaaatacatt	8	9	1	4	rs201730738		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23556145G>A	ENST00000297071.4	-	3	389	c.173C>T	c.(172-174)tCg>tTg	p.S58L	TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	58	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CCTTGACCTCGACCTTTGAGA	0.398																																					Pancreas(121;2137 2973 46590)	ENST00000297071.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(172-174)tCg>tTg		transformer 2 alpha homolog (Drosophila)							113	99	104					7																	23556145		2203	4300	6503	SO:0001583	missense	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23556145G>A	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"RNA binding motif (RRM) containing"	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.173C>T	7.37:g.23556145G>A	ENSP00000297071:p.Ser58Leu		Somatic				TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	p.S58L	NM_013293.3	NP_037425.1	WXS	Illumina GAIIx	Phase_I	Q13595	TRA2A_HUMAN			3	389	-			58			Arg/Ser-rich (RS1 domain).		B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	c.173C>T	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752777	0.89753	.	.	ENSG00000164548	ENST00000297071	T	0.33216	1.42	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.57140	0.2033	M	0.76170	2.325	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	T	0.51710	-0.8671	10	0.39692	T	0.17	-1.9214	20.147	0.98082	0.0:0.0:1.0:0.0	.	58	Q13595	TRA2A_HUMAN	L	58	ENSP00000297071:S58L	ENSP00000297071:S58L	S	-	2	0	TRA2A	23522670	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.592000	0.82676	2.770000	0.95276	0.405000	0.27470	TCG		0.398	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		13	30	0	0	0	1	0	13	30					A	23556145	G	A	23556145	3	1	48	1	0	0	0	0	1	0	0	0	16448	1059	37	1	699	1	TRA2A	7	23556145	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	9054	23556145	135582518	1900	6368										
C7orf46	340277	broad.mit.edu	37	chr7	23740474	23740474	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatggctttctttgaaagacGataccaggaaagggtaggtt	12	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23740474G>T	ENST00000344962.4	+	6	904	c.815G>T	c.(814-816)cGa>cTa	p.R272L	FAM221A_ENST00000409994.3_Missense_Mutation_p.R178L|FAM221A_ENST00000409653.1_Missense_Mutation_p.R214L|FAM221A_ENST00000483090.1_3'UTR|FAM221A_ENST00000409192.3_Missense_Mutation_p.R236L	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	272																	TTTGAAAGACGATACCAGGAA	0.348																																						ENST00000344962.4																			0											c.(814-816)cGa>cTa		family with sequence similarity 221, member A							145	165	158					7																	23740474		2203	4299	6502	SO:0001583	missense	340277							g.chr7:23740474G>T		CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 46"	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.815G>T	7.37:g.23740474G>T	ENSP00000342576:p.Arg272Leu		Somatic				FAM221A_ENST00000483090.1_3'UTR|FAM221A_ENST00000409994.3_Missense_Mutation_p.R178L|FAM221A_ENST00000409653.1_Missense_Mutation_p.R214L|FAM221A_ENST00000409192.3_Missense_Mutation_p.R236L	p.R272L	NM_199136.3	NP_954587.2	WXS	Illumina GAIIx	Phase_I	A4D161	CG046_HUMAN			6	904	+			272					Q05CG4|Q4G0Q7|Q6P519	Missense_Mutation	SNP	ENST00000344962.4	37	c.815G>T	CCDS5385.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868717	0.72065	.	.	ENSG00000188732	ENST00000409192;ENST00000344962;ENST00000409653;ENST00000409994	T;T;T;T	0.23348	1.91;2.15;2.14;1.95	6.01	3.21	0.36854	.	0.160446	0.41712	D	0.000828	T	0.39733	0.1089	M	0.75264	2.295	0.34925	D	0.748798	P;P;D	0.67145	0.841;0.943;0.996	B;P;P	0.54706	0.372;0.67;0.759	T	0.54774	-0.8243	10	0.87932	D	0	-3.2261	8.7044	0.34345	0.2972:0.0:0.7028:0.0	.	178;236;272	A4D161-3;A4D161-2;A4D161	.;.;CG046_HUMAN	L	236;272;214;178	ENSP00000386927:R236L;ENSP00000342576:R272L;ENSP00000386900:R214L;ENSP00000386631:R178L	ENSP00000342576:R272L	R	+	2	0	C7orf46	23706999	0.554000	0.26522	0.997000	0.53966	0.952000	0.60782	0.859000	0.27858	0.417000	0.25871	-0.142000	0.14014	CGA		0.348	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1	NM_199136		39	68	1	0	6.57855e-14	1	8.50372e-14	39	68					T	23740474	G	T	23740474	3	4	48	1	0	0	0	0	1	0	0	0	2398	1058	37	2	837	2	C7orf46	7	23740474	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	184329	23740474	135398189	1901	6369										
STK31	56164	broad.mit.edu	37	chr7	23811882	23811882	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agatggaaattggttgaaaaGagtaatttggaagaggtaag	14	0	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23811882G>T	ENST00000355870.3	+	15	2069	c.1950G>T	c.(1948-1950)aaG>aaT	p.K650N	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Missense_Mutation_p.K627N|STK31_ENST00000433467.2_Missense_Mutation_p.K650N|STK31_ENST00000428484.1_Missense_Mutation_p.K627N	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	650						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						TGGTTGAAAAGAGTAATTTGG	0.323																																						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.(1879-1881)aaG>aaT		serine/threonine kinase 31							74	77	76					7																	23811882		2202	4292	6494	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23811882G>T	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.1950G>T	7.37:g.23811882G>T	ENSP00000348132:p.Lys650Asn		Somatic				STK31_ENST00000428484.1_Missense_Mutation_p.K627N|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.K650N|STK31_ENST00000355870.3_Missense_Mutation_p.K650N	p.K627N	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	WXS	Illumina GAIIx	Phase_I	Q9BXU1	STK31_HUMAN			15	2345	+			650					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1881G>T	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039856	0.55003	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.74002	-0.8;0.95;-0.79;-0.79	5.19	3.37	0.38596	.	0.342731	0.31673	N	0.007257	T	0.79616	0.4476	M	0.62723	1.935	0.35101	D	0.765287	D;D	0.76494	0.999;0.999	P;P	0.60789	0.879;0.879	D	0.84106	0.0398	10	0.62326	D	0.03	-4.8209	8.6022	0.33751	0.3031:0.0:0.6969:0.0	.	650;650	B4DZ06;Q9BXU1	.;STK31_HUMAN	N	650;650;627;627	ENSP00000348132:K650N;ENSP00000411852:K650N;ENSP00000346660:K627N;ENSP00000406146:K627N	ENSP00000346660:K627N	K	+	3	2	STK31	23778407	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	0.954000	0.29175	1.199000	0.43173	-0.232000	0.12228	AAG		0.323	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		21	32	1	0	8.10497e-08	1	9.43176e-08	21	32					T	23811882	G	T	23811882	3	4	48	1	0	0	0	0	1	0	0	0	15311	933	33	2	2008	2	STK31	7	23811882	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	71408	23811882	135326781	1902	6370										
STK31	56164	broad.mit.edu	37	chr7	23871984	23871984	+	Nonstop_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaagccaactttgattgttAaattattattgttgttgttg	8	3	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23871984A>C	ENST00000355870.3	+	24	3178	c.3059A>C	c.(3058-3060)tAa>tCa	p.*1020S	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Nonstop_Mutation_p.*997S|STK31_ENST00000433467.2_Nonstop_Mutation_p.*997S|STK31_ENST00000428484.1_Nonstop_Mutation_p.*997S	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	0						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						TTTGATTGTTAAATTATTATT	0.318																																						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.(2989-2991)tAa>tCa		serine/threonine kinase 31							47	52	50					7																	23871984		2203	4298	6501	SO:0001578	stop_lost	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23871984A>C	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.3059A>C	7.37:g.23871984A>C	ENSP00000348132:p.*1020Serext*29		Somatic				STK31_ENST00000428484.1_Nonstop_Mutation_p.*997S|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Nonstop_Mutation_p.*997S|STK31_ENST00000355870.3_Nonstop_Mutation_p.*1020S	p.*997S	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	WXS	Illumina GAIIx	Phase_I	Q9BXU1	STK31_HUMAN			24	3454	+			0			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Nonstop_Mutation	SNP	ENST00000355870.3	37	c.2990A>C	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	9.024	0.985557	0.18889	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	4.51	2.08	0.27032	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2097	0.20621	0.7871:0.0:0.2129:0.0	.	.	.	.	S	1020;997;997;997	.	.	X	+	2	2	STK31	23838509	0.539000	0.26402	0.001000	0.08648	0.442000	0.32017	1.569000	0.36428	0.210000	0.20664	0.260000	0.18958	TAA		0.318	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		13	30	0	0	0	1	0	13	30					C	23871984	A	C	23871984	4	2	48	1	0	0	0	0	0	0	0	0	15311	369	13	4	3153	4	STK31	7	23871984	Nonstop_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	60102	23871984	135266679	1903	6371										
OSBPL3	26031	broad.mit.edu	37	chr7	24846441	24846441	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtaggtggcaataaagactTtgatgatggatccatttcat	10	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:24846441T>C	ENST00000313367.2	-	21	2849	c.2398A>G	c.(2398-2400)Aag>Gag	p.K800E	OSBPL3_ENST00000431825.2_Missense_Mutation_p.K733E|OSBPL3_ENST00000487020.1_Intron|OSBPL3_ENST00000409069.1_Missense_Mutation_p.K733E|OSBPL3_ENST00000396431.1_Missense_Mutation_p.K769E|OSBPL3_ENST00000396429.1_Missense_Mutation_p.K764E|OSBPL3_ENST00000353930.1_Missense_Mutation_p.K764E|OSBPL3_ENST00000352860.1_Missense_Mutation_p.K769E	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	800					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						AATAAAGACTTTGATGATGGA	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.(2398-2400)Aag>Gag		oxysterol binding protein-like 3							139	131	134					7																	24846441		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24846441T>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.2398A>G	7.37:g.24846441T>C	ENSP00000315410:p.Lys800Glu		Somatic				OSBPL3_ENST00000409069.1_Missense_Mutation_p.K733E|OSBPL3_ENST00000396429.1_Missense_Mutation_p.K764E|OSBPL3_ENST00000396431.1_Missense_Mutation_p.K769E|OSBPL3_ENST00000431825.2_Missense_Mutation_p.K733E|OSBPL3_ENST00000353930.1_Missense_Mutation_p.K764E|OSBPL3_ENST00000487020.1_Intron|OSBPL3_ENST00000352860.1_Missense_Mutation_p.K769E	p.K800E	NM_015550.2	NP_056365.1	WXS	Illumina GAIIx	Phase_I	Q9H4L5	OSBL3_HUMAN			21	2849	-			800					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.2398A>G	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.653734	0.47362	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.68	3.17	0.36434	.	0.378699	0.31415	N	0.007687	T	0.22704	0.0548	L	0.35288	1.05	0.09310	N	1	B;B;B;B	0.34349	0.153;0.395;0.0;0.45	B;B;B;B	0.37833	0.168;0.168;0.004;0.259	T	0.11275	-1.0594	10	0.29301	T	0.29	-8.2547	8.2241	0.31558	0.0:0.0697:0.1339:0.7964	.	733;769;764;800	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	E	800;769;764;733;769;764;733	ENSP00000315410:K800E;ENSP00000315331:K769E;ENSP00000315277:K764E;ENSP00000389779:K733E;ENSP00000379708:K769E;ENSP00000379706:K764E;ENSP00000386953:K733E	ENSP00000315410:K800E	K	-	1	0	OSBPL3	24812966	0.826000	0.29277	0.193000	0.23327	0.906000	0.53458	2.715000	0.47210	0.981000	0.38548	0.454000	0.30748	AAG		0.368	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			20	54	0	0	0	1	0	20	54					C	24846441	T	C	24846441	3	2	48	1	0	0	0	0	1	0	0	0	11288	1850	64	4	277	4	OSBPL3	7	24846441	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	974457	24846441	134292222	1904	6372										
HOXA9	3205	broad.mit.edu	37	chr7	27203258	27203258	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggtctttgttgattttcttCattttcatcctgcggttctg	8	9	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:27203258C>A	ENST00000343483.6	-	2	855	c.783G>T	c.(781-783)atG>atT	p.M261I	RP1-170O19.20_ENST00000465941.1_5'Flank|HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.M101I|HOXA9_ENST00000497089.1_5'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	261					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						TGATTTTCTTCATTTTCATCC	0.483			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.(781-783)atG>atT		homeobox A9							203	205	204					7																	27203258		2203	4300	6503	SO:0001583	missense	3205						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27203258C>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.783G>T	7.37:g.27203258C>A	ENSP00000343619:p.Met261Ile		Somatic				RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.M101I|HOXA9_ENST00000497089.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR	p.M261I	NM_152739.3	NP_689952.1	WXS	Illumina GAIIx	Phase_I	P31269	HXA9_HUMAN			2	855	-			261					O43369|O43429|Q99820	Missense_Mutation	SNP	ENST00000343483.6	37	c.783G>T	CCDS5409.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070616	0.76301	.	.	ENSG00000078399;ENSG00000078399;ENSG00000078399;ENSG00000257184	ENST00000343483;ENST00000354032;ENST00000242050;ENST00000470747	D;D	0.96104	-3.91;-3.91	5.21	5.21	0.72293	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94827	0.8329	N	0.11427	0.14	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.96329	0.9242	10	0.72032	D	0.01	.	18.1323	0.89605	0.0:1.0:0.0:0.0	.	261	P31269	HXA9_HUMAN	I	261;185;252;101	ENSP00000343619:M261I;ENSP00000421799:M101I	ENSP00000242050:M252I	M	-	3	0	RP1-170O19.20;HOXA9	27169783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.623000	0.88846	0.561000	0.74099	ATG		0.483	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			50	94	1	0	1.21353e-23	1	1.69828e-23	50	94					A	27203258	C	A	27203258	3	1	48	1	0	0	0	0	1	0	0	0	7307	826	29	2	39	2	HOXA9	7	27203258	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2356817	27203258	131935405	1905	6373										
EVX1	2128	broad.mit.edu	37	chr7	27282795	27282795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgccccgtggttgcctgaGccctcgggccgtccctccgg	15	17	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:27282795G>A	ENST00000496902.4	+	1	632	c.146G>A	c.(145-147)aGc>aAc	p.S49N	RP1-170O19.17_ENST00000523608.2_lincRNA|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_5'Flank|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_Missense_Mutation_p.S49N|EVX1-AS_ENST00000519050.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	49					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						GGTTGCCTGAGCCCTCGGGCC	0.726																																						ENST00000496902.4																			0				kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						c.(145-147)aGc>aAc		even-skipped homeobox 1							13	14	14					7																	27282795		2184	4284	6468	SO:0001583	missense	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27282795G>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.146G>A	7.37:g.27282795G>A	ENSP00000419266:p.Ser49Asn		Somatic				EVX1_ENST00000222761.3_Missense_Mutation_p.S49N|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA	p.S49N			WXS	Illumina GAIIx	Phase_I	P49640	EVX1_HUMAN			1	632	+			49					A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	c.146G>A	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071701	0.76301	.	.	ENSG00000106038	ENST00000496902;ENST00000222761	D	0.92149	-2.98	5.13	4.24	0.50183	.	0.000000	0.85682	D	0.000000	D	0.94840	0.8333	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.65323	0.934;0.884	D	0.94820	0.7986	10	0.62326	D	0.03	-27.492	13.7681	0.63008	0.0749:0.0:0.9251:0.0	.	49;49	F8W9J5;P49640	.;EVX1_HUMAN	N	49	ENSP00000419266:S49N	ENSP00000222761:S49N	S	+	2	0	EVX1	27249320	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.237000	0.78164	1.151000	0.42436	0.462000	0.41574	AGC		0.726	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			6	10	0	0	0	1	0	6	10					A	27282795	G	A	27282795	3	1	48	1	0	0	0	0	1	0	0	0	5296	971	34	3	148	3	EVX1	7	27282795	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	79537	27282795	131855868	1906	6374										
HIBADH	11112	broad.mit.edu	37	chr7	27582659	27582659	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaactcttgggcagcagcaAattcatcttcaactcctccc	6	15	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:27582659A>C	ENST00000265395.2	-	5	751	c.545T>G	c.(544-546)tTt>tGt	p.F182C		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	182					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)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			GGCAGCAGCAAATTCATCTTC	0.483																																						ENST00000265395.2																			0				endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12						c.(544-546)tTt>tGt		3-hydroxyisobutyrate dehydrogenase	NADH(DB00157)						99	84	89					7																	27582659		2203	4300	6503	SO:0001583	missense	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.chr7:27582659A>C	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.545T>G	7.37:g.27582659A>C	ENSP00000265395:p.Phe182Cys		Somatic					p.F182C	NM_152740.3	NP_689953.1	WXS	Illumina GAIIx	Phase_I	P31937	3HIDH_HUMAN	GBM - Glioblastoma multiforme(3;0.0368)		5	751	-			182					Q546Z2|Q9UDN3	Missense_Mutation	SNP	ENST00000265395.2	37	c.545T>G	CCDS5414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.968623|3.968623	0.74131|0.74131	.|.	.|.	ENSG00000106049|ENSG00000106049	ENST00000265395|ENST00000425715	T|.	0.36157|.	1.27|.	5.92|5.92	5.92|5.92	0.95590|0.95590	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);|.	0.047977|.	0.85682|.	D|.	0.000000|.	D|D	0.83552|0.83552	0.5279|0.5279	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.73708|.	0.981;0.981|.	D|D	0.86329|0.86329	0.1697|0.1697	10|5	0.87932|.	D|.	0|.	-0.0041|-0.0041	16.3631|16.3631	0.83280|0.83280	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	182;182|.	Q546Z2;P31937|.	.;3HIDH_HUMAN|.	C|V	182|125	ENSP00000265395:F182C|.	ENSP00000265395:F182C|.	F|L	-|-	2|1	0|2	HIBADH|HIBADH	27549184|27549184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.306000|4.306000	0.59117|0.59117	2.266000|2.266000	0.75297|0.75297	0.533000|0.533000	0.62120|0.62120	TTT|TTG		0.483	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		9	41	0	0	0	1	0	9	41					C	27582659	A	C	27582659	3	2	48	1	0	0	0	0	1	0	0	0	7108	14	1	4	481	4	HIBADH	7	27582659	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	299864	27582659	131556004	1907	6375										
JAZF1	221895	broad.mit.edu	37	chr7	27935032	27935032	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggcgggcagcatctgtcatGaatctgaaacaataatggaa	11	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:27935032G>T	ENST00000283928.5	-	3	357	c.192C>A	c.(190-192)ttC>ttA	p.F64L		NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	64					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CATCTGTCATGAATCTGAAAC	0.483			T	SUZ12	endometrial stromal tumours																																	ENST00000283928.5				Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(133)	0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(190-192)ttC>ttA		JAZF zinc finger 1							52	51	51					7																	27935032		2203	4300	6503	SO:0001583	missense	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:27935032G>T	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"Zinc fingers, C2H2-type"	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.192C>A	7.37:g.27935032G>T	ENSP00000283928:p.Phe64Leu		Somatic					p.F64L	NM_175061.3	NP_778231.2	WXS	Illumina GAIIx	Phase_I	Q86VZ6	JAZF1_HUMAN			3	357	-			64					A4D195|Q8N3L7	Missense_Mutation	SNP	ENST00000283928.5	37	c.192C>A	CCDS5416.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.34|18.34	3.603217|3.603217	0.66445|0.66445	.|.	.|.	ENSG00000153814|ENSG00000153814	ENST00000283928;ENST00000430432;ENST00000447620;ENST00000420835|ENST00000427814	T|.	0.80033|.	-1.33|.	5.46|5.46	4.46|4.46	0.54185|0.54185	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.60702|.	0.2289|.	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	P|.	0.52577|.	0.954|.	D|.	0.66351|.	0.943|.	T|.	0.59773|.	-0.7391|.	10|.	0.49607|.	T|.	0.09|.	-18.561|-18.561	6.5215|6.5215	0.22277|0.22277	0.2114:0.0:0.7886:0.0|0.2114:0.0:0.7886:0.0	.|.	64|.	Q86VZ6|.	JAZF1_HUMAN|.	L|X	64;31;40;79|51	ENSP00000283928:F64L|.	ENSP00000283928:F64L|.	F|S	-|-	3|2	2|0	JAZF1|JAZF1	27901557|27901557	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.640000|3.640000	0.54350|0.54350	2.563000|2.563000	0.86464|0.86464	0.655000|0.655000	0.94253|0.94253	TTC|TCA		0.483	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		17	43	1	0	4.14922e-12	1	5.21015e-12	17	43					T	27935032	G	T	27935032	3	4	48	1	0	0	0	0	1	0	0	0	7955	1281	45	2	551	2	JAZF1	7	27935032	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	352373	27935032	131203631	1908	6376										
CPVL	54504	broad.mit.edu	37	chr7	29111427	29111427	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttctgcttcctgatgtgttCtatgcattcatggcactgct	9	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:29111427C>A	ENST00000409850.1	-	13	1472	c.826G>T	c.(826-828)Gaa>Taa	p.E276*	CPVL_ENST00000396276.3_Nonsense_Mutation_p.E276*|CPVL_ENST00000265394.5_Nonsense_Mutation_p.E276*			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	276						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CTGATGTGTTCTATGCATTCA	0.488																																						ENST00000409850.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(826-828)Gaa>Taa		carboxypeptidase, vitellogenic-like							121	107	112					7																	29111427		2203	4300	6503	SO:0001587	stop_gained	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29111427C>A	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.826G>T	7.37:g.29111427C>A	ENSP00000387164:p.Glu276*		Somatic				CPVL_ENST00000396276.3_Nonsense_Mutation_p.E276*|CPVL_ENST00000265394.5_Nonsense_Mutation_p.E276*	p.E276*			WXS	Illumina GAIIx	Phase_I	Q9H3G5	CPVL_HUMAN			13	1472	-			276					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Nonsense_Mutation	SNP	ENST00000409850.1	37	c.826G>T	CCDS5419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.875467|4.875467	0.91664|0.91664	.|.	.|.	ENSG00000106066|ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000455893;ENST00000409850;ENST00000542995;ENST00000448959|ENST00000432534	.|.	.|.	.|.	5.65|5.65	1.62|1.62	0.23740|0.23740	.|.	0.259471|.	0.42172|.	D|.	0.000749|.	.|T	.|0.39860	.|0.1094	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.45279	.|-0.9272	.|3	0.07030|.	T|.	0.85|.	-7.9199|-7.9199	6.4326|6.4326	0.21805|0.21805	0.0:0.0896:0.2875:0.623|0.0:0.0896:0.2875:0.623	.|.	.|.	.|.	.|.	X|I	276;276;32;276;160;206|12	.|.	ENSP00000265394:E276X|.	E|R	-|-	1|2	0|0	CPVL|CPVL	29077952|29077952	0.312000|0.312000	0.24545|0.24545	0.833000|0.833000	0.33012|0.33012	0.465000|0.465000	0.32709|0.32709	1.471000|1.471000	0.35365|0.35365	0.021000|0.021000	0.15133|0.15133	-0.274000|-0.274000	0.10170|0.10170	GAA|AGA		0.488	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		8	97	1	0	0.000157383	1	0.000169016	8	97					A	29111427	C	A	29111427	4	1	48	1	0	0	0	0	0	1	0	0	3837	922	32	2	624	2	CPVL	7	29111427	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1176395	29111427	130027236	1909	6377										
CPVL	54504	broad.mit.edu	37	chr7	29111954	29111954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atccatctccaatagcaattCcgttcaggttgatcttcacc	5	13	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:29111954C>T	ENST00000409850.1	-	12	1341	c.695G>A	c.(694-696)gGa>gAa	p.G232E	CPVL_ENST00000396276.3_Missense_Mutation_p.G232E|CPVL_ENST00000265394.5_Missense_Mutation_p.G232E			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	232						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						AATAGCAATTCCGTTCAGGTT	0.433																																						ENST00000409850.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(694-696)gGa>gAa		carboxypeptidase, vitellogenic-like							152	128	136					7																	29111954		2203	4300	6503	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29111954C>T	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"carboxypeptidase WUG", "vitellogenic carboxypeptidase-like protein", "CP-Mac carboxypeptidase"	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.695G>A	7.37:g.29111954C>T	ENSP00000387164:p.Gly232Glu		Somatic				CPVL_ENST00000396276.3_Missense_Mutation_p.G232E|CPVL_ENST00000265394.5_Missense_Mutation_p.G232E	p.G232E			WXS	Illumina GAIIx	Phase_I	Q9H3G5	CPVL_HUMAN			12	1341	-			232					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.695G>A	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395862	0.83011	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995;ENST00000448959	D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.98043	0.9355	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99529	1.0960	10	0.87932	D	0	5.0E-4	17.5741	0.87943	0.0:1.0:0.0:0.0	.	232	Q9H3G5	CPVL_HUMAN	E	232;232;232;116;162	ENSP00000265394:G232E;ENSP00000379572:G232E;ENSP00000387164:G232E;ENSP00000409036:G162E	ENSP00000265394:G232E	G	-	2	0	CPVL	29078479	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	5.395000	0.66291	2.513000	0.84729	0.591000	0.81541	GGA		0.433	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		20	35	0	0	0	1	0	20	35					T	29111954	C	T	29111954	3	4	48	1	0	0	0	0	1	0	0	0	3837	855	30	3	759	3	CPVL	7	29111954	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	527	29111954	130026709	1910	6378										
CCDC129	223075	broad.mit.edu	37	chr7	31617627	31617627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagtgccgccaaagagcatcGaagaagaatgggtaaactct	12	8	1	3	rs201901788	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:31617627G>A	ENST00000407970.3	+	8	787	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	CCDC129_ENST00000409210.1_Missense_Mutation_p.R158Q|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.R276Q	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	250										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAAGAGCATCGAAGAAGAATG	0.483													g|||	6	0.00119808	0.0038	0	5008	,	,		20983	0.001		0	False		,,,				2504	0					ENST00000409210.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(472-474)cGa>cAa		coiled-coil domain containing 129		A	GLN/ARG	15,4391	22.3+/-47.3	0,15,2188	70	65	67		749	-11.5	0	7		67	0,8600		0,0,4300	yes	missense	CCDC129	NM_194300.2	43	0,15,6488	AA,AG,GG		0.0,0.3404,0.1153	benign	250/1045	31617627	15,12991	2203	4300	6503	SO:0001583	missense	223075							g.chr7:31617627G>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.749G>A	7.37:g.31617627G>A	ENSP00000384416:p.Arg250Gln		Somatic				CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.R250Q|CCDC129_ENST00000451887.2_Missense_Mutation_p.R276Q	p.R158Q			WXS	Illumina GAIIx	Phase_I	Q6ZRS4	CC129_HUMAN			6	657	+			250					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.473G>A	CCDS5435.2	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	g	11.40	1.627104	0.28978	0.003404	0.0	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.19250	2.41;2.39;2.16	5.77	-11.5	0.00074	.	.	.	.	.	T	0.10423	0.0255	L	0.27053	0.805	0.09310	N	1	B;B;B	0.23891	0.093;0.033;0.033	B;B;B	0.13407	0.009;0.009;0.009	T	0.16129	-1.0413	8	.	.	.	-3.4394	11.3205	0.49419	0.6504:0.1562:0.1934:0.0	.	276;260;250	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	Q	250;276;260;158	ENSP00000384416:R250Q;ENSP00000395835:R276Q;ENSP00000387214:R158Q	.	R	+	2	0	CCDC129	31584152	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.859000	0.01657	-2.602000	0.00450	-0.215000	0.12644	CGA		0.483	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		10	24	0	0	0	1	0	10	24					A	31617627	G	A	31617627	3	1	48	1	0	0	0	0	1	0	0	0	2766	1058	37	1	775	1	CCDC129	7	31617627	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2505673	31617627	127521036	1911	6379										
CCDC129	223075	broad.mit.edu	37	chr7	31617807	31617807	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccacaagcaaaatcatttgtCtctgtcagtagaacatcagt	6	10	4	1	rs373943918		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:31617807C>A	ENST00000407970.3	+	8	967	c.929C>A	c.(928-930)tCt>tAt	p.S310Y	CCDC129_ENST00000409210.1_Missense_Mutation_p.S218Y|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.S336Y	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	310										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AATCATTTGTCTCTGTCAGTA	0.453																																						ENST00000409210.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(652-654)tCt>tAt		coiled-coil domain containing 129							66	68	67					7																	31617807		2144	4268	6412	SO:0001583	missense	223075							g.chr7:31617807C>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.929C>A	7.37:g.31617807C>A	ENSP00000384416:p.Ser310Tyr		Somatic				CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.S310Y|CCDC129_ENST00000451887.2_Missense_Mutation_p.S336Y	p.S218Y			WXS	Illumina GAIIx	Phase_I	Q6ZRS4	CC129_HUMAN			6	837	+			310					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.653C>A	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149548	0.37923	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.18338	2.49;2.48;2.22	5.08	2.05	0.26809	.	.	.	.	.	T	0.32315	0.0825	L	0.60455	1.87	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.66847	0.947;0.947;0.947	T	0.05115	-1.0905	8	.	.	.	-1.5416	8.7665	0.34706	0.0:0.6339:0.284:0.0821	.	336;320;310	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	Y	310;336;320;218	ENSP00000384416:S310Y;ENSP00000395835:S336Y;ENSP00000387214:S218Y	.	S	+	2	0	CCDC129	31584332	0.003000	0.15002	0.027000	0.17364	0.020000	0.10135	-0.076000	0.11412	0.802000	0.34089	0.655000	0.94253	TCT		0.453	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		23	14	1	0	3.8784e-16	1	5.13982e-16	23	14					A	31617807	C	A	31617807	3	1	48	1	0	0	0	0	1	0	0	0	2766	913	32	2	955	2	CCDC129	7	31617807	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	180	31617807	127520856	1912	6380										
CCDC129	223075	broad.mit.edu	37	chr7	31692174	31692174	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccacctgaacactattcaAatctgcatcaatataactgg	5	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:31692174A>C	ENST00000407970.3	+	14	2904	c.2866A>C	c.(2866-2868)Aat>Cat	p.N956H	CCDC129_ENST00000409210.1_Missense_Mutation_p.N864H|CCDC129_ENST00000319386.3_Missense_Mutation_p.N808H|CCDC129_ENST00000451887.2_Missense_Mutation_p.N982H	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	956										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACACTATTCAAATCTGCATCA	0.458																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(2422-2424)Aat>Cat		coiled-coil domain containing 129							40	36	37					7																	31692174		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31692174A>C	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.2866A>C	7.37:g.31692174A>C	ENSP00000384416:p.Asn956His		Somatic				CCDC129_ENST00000409210.1_Missense_Mutation_p.N864H|CCDC129_ENST00000407970.3_Missense_Mutation_p.N956H|CCDC129_ENST00000451887.2_Missense_Mutation_p.N982H	p.N808H			WXS	Illumina GAIIx	Phase_I	Q6ZRS4	CC129_HUMAN			14	3415	+			956			Cys-rich.		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.2422A>C	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	14.53	2.563174	0.45694	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.20598	2.06;2.34;2.37;2.07	4.33	-1.19	0.09585	.	1.059300	0.07377	N	0.886848	T	0.37265	0.0997	M	0.67953	2.075	0.09310	N	1	D;B;B;D	0.76494	0.998;0.019;0.019;0.999	D;B;B;D	0.67548	0.947;0.022;0.022;0.952	T	0.26087	-1.0113	10	0.72032	D	0.01	-2.0257	4.3598	0.11196	0.4765:0.332:0.1915:0.0	.	982;966;956;808	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	H	808;956;982;966;864	ENSP00000313062:N808H;ENSP00000384416:N956H;ENSP00000395835:N982H;ENSP00000387214:N864H	ENSP00000313062:N808H	N	+	1	0	CCDC129	31658699	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-0.048000	0.11944	-0.288000	0.09051	0.459000	0.35465	AAT		0.458	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		5	9	0	0	0	1	0	5	9					C	31692174	A	C	31692174	3	2	48	1	0	0	0	0	1	0	0	0	2766	14	1	4	2916	4	CCDC129	7	31692174	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	74367	31692174	127446489	1913	6381										
PDE1C	5137	broad.mit.edu	37	chr7	31848655	31848655	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atactcttaccatctgttttCtttgaatcatttccgatgtt	4	9	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:31848655C>A	ENST00000396191.1	-	16	2336	c.1881G>T	c.(1879-1881)aaG>aaT	p.K627N	PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396184.3_Missense_Mutation_p.K627N|PDE1C_ENST00000396182.2_Missense_Mutation_p.K627N|PDE1C_ENST00000321453.7_Missense_Mutation_p.K627N|PDE1C_ENST00000396193.1_Missense_Mutation_p.K687N	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	627					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CATCTGTTTTCTTTGAATCAT	0.303																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(1879-1881)aaG>aaT		phosphodiesterase 1C, calmodulin-dependent 70kDa							148	131	136					7																	31848655		2202	4298	6500	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.chr7:31848655C>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"Phosphodiesterases"	8776	protein-coding gene	gene with protein product		602987	"phosphodiesterase 1C, calmodulin-dependent (70kD)"			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1881G>T	7.37:g.31848655C>A	ENSP00000379494:p.Lys627Asn		Somatic				PDE1C_ENST00000321453.7_Missense_Mutation_p.K627N|PDE1C_ENST00000396191.1_Missense_Mutation_p.K627N|PDE1C_ENST00000396193.1_Missense_Mutation_p.K687N|PDE1C_ENST00000396182.2_Missense_Mutation_p.K627N|PDE1C_ENST00000479980.1_5'UTR	p.K627N	NM_005020.2	NP_005011.1	WXS	Illumina GAIIx	Phase_I	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		17	2085	-			627					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1881G>T	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907402	0.52333	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-0.93;-0.93	5.35	5.35	0.76521	.	0.168226	0.40818	N	0.001012	T	0.81969	0.4935	L	0.32530	0.975	0.39518	D	0.968469	D;D;P	0.61080	0.989;0.981;0.608	D;D;B	0.72625	0.978;0.95;0.109	D	0.84025	0.0356	10	0.87932	D	0	.	14.4381	0.67296	0.0:1.0:0.0:0.0	.	627;687;627	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	N	687;627;627;627;627	ENSP00000379496:K687N;ENSP00000379494:K627N;ENSP00000318105:K627N;ENSP00000379487:K627N;ENSP00000379485:K627N	ENSP00000318105:K627N	K	-	3	2	PDE1C	31815180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.018000	0.57174	2.770000	0.95276	0.650000	0.86243	AAG		0.303	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			3	14	1	0	0.115264	1	0.116507	3	14					A	31848655	C	A	31848655	3	1	48	1	0	0	0	0	1	0	0	0	11644	912	32	2	31	2	PDE1C	7	31848655	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	156481	31848655	127290008	1914	6382										
LSM5	23658	broad.mit.edu	37	chr7	32526906	32526906	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttctcctccaggaaccagCtgcataaagaggaaaaagag	9	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:32526906C>T	ENST00000450169.2	-	5	296		c.e5-1		LSM5_ENST00000409292.1_Splice_Site|LSM5_ENST00000409782.1_Splice_Site|LSM5_ENST00000409909.3_Splice_Site|LSM5_ENST00000410044.1_Splice_Site|LSM5_ENST00000409952.3_Splice_Site|LSM5_ENST00000409987.1_Splice_Site	NM_001130710.1|NM_012322.2	NP_001124182.1|NP_036454.1	Q9Y4Y9	LSM5_HUMAN	LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			breast(1)|cervix(1)|large_intestine(1)|lung(1)|stomach(1)	5			GBM - Glioblastoma multiforme(11;0.152)			CAGGAACCAGCTGCATAAAGA	0.393																																						ENST00000450169.2																			0				breast(1)|cervix(1)|large_intestine(1)|lung(1)|stomach(1)	5						c.e5-1		LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)							78	78	78					7																	32526906		2203	4300	6503	SO:0001630	splice_region_variant	0				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr7:32526906C>T	AF182291	CCDS5438.1, CCDS47571.1	7p14.3	2003-02-17			ENSG00000106355	ENSG00000106355			17162	protein-coding gene	gene with protein product		607285				10369684, 12515382	Standard	NM_001130710		Approved	YER146W	uc003tct.2	Q9Y4Y9	OTTHUMG00000022913	ENST00000450169.2:c.244-1G>A	7.37:g.32526906C>T			Somatic				LSM5_ENST00000409987.1_Splice_Site|LSM5_ENST00000409782.1_Splice_Site|LSM5_ENST00000409952.3_Splice_Site|LSM5_ENST00000409909.3_Splice_Site|LSM5_ENST00000410044.1_Splice_Site|LSM5_ENST00000409292.1_Splice_Site		NM_001130710.1|NM_012322.2	NP_001124182.1|NP_036454.1	WXS	Illumina GAIIx	Phase_I	Q9Y4Y9	LSM5_HUMAN	GBM - Glioblastoma multiforme(11;0.152)		5	296	-									Splice_Site	SNP	ENST00000450169.2	37		CCDS5438.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053730	0.75960	.	.	ENSG00000106355	ENST00000450169;ENST00000409909;ENST00000409292;ENST00000410044;ENST00000409782;ENST00000409952	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0656	0.64826	0.0:0.9259:0.0:0.074	.	.	.	.	.	-1	.	.	.	-	.	.	LSM5	32493431	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.784000	0.75084	2.701000	0.92244	0.655000	0.94253	.		0.393	LSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215102.2		Intron	13	12	0	0	0	1	0	13	12					T	32526906	C	T	32526906	5	4	48	1	0	0	0	0	0	0	1	0	9068	811	28	3	36	3	LSM5	7	32526906	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	678251	32526906	126611757	1915	6383										
NPSR1	387129	broad.mit.edu	37	chr7	34888160	34888160	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaatttcaacctccttccaGacacccaggagcgtttctat	5	14	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:34888160G>A	ENST00000360581.1	+	8	1038	c.910G>A	c.(910-912)Gac>Aac	p.D304N	NPSR1_ENST00000381542.1_Missense_Mutation_p.D238N|NPSR1_ENST00000359791.1_Missense_Mutation_p.D304N|NPSR1_ENST00000381539.3_Missense_Mutation_p.D304N|NPSR1_ENST00000531252.1_Missense_Mutation_p.D293N	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	304						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCTCCTTCCAGACACCCAGGA	0.493																																						ENST00000360581.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(910-912)Gac>Aac		neuropeptide S receptor 1	Halothane(DB01159)						234	228	230					7																	34888160		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34888160G>A	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"GPCR / Class A : Neuropeptide receptors : S"	23631	protein-coding gene	gene with protein product		608595	"G protein-coupled receptor 154"	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.910G>A	7.37:g.34888160G>A	ENSP00000353788:p.Asp304Asn		Somatic				NPSR1_ENST00000381539.3_Missense_Mutation_p.D304N|NPSR1_ENST00000359791.1_Missense_Mutation_p.D304N|NPSR1_ENST00000531252.1_Missense_Mutation_p.D293N|NPSR1_ENST00000381542.1_Missense_Mutation_p.D238N	p.D304N	NM_207172.1	NP_997055.1	WXS	Illumina GAIIx	Phase_I	Q6W5P4	NPSR1_HUMAN			8	1038	+			304					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.910G>A	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756563	0.31137	.	.	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539;ENST00000334481	T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62	5.22	1.14	0.20703	GPCR, rhodopsin-like superfamily (1);	0.296932	0.29165	N	0.012947	T	0.50854	0.1640	L	0.31526	0.94	0.32111	N	0.589261	B;B;B;B;B;B	0.29232	0.238;0.005;0.028;0.001;0.005;0.001	B;B;B;B;B;B	0.28011	0.085;0.004;0.011;0.008;0.004;0.006	T	0.48547	-0.9026	10	0.20519	T	0.43	-11.0033	6.6074	0.22734	0.2322:0.1285:0.6394:0.0	.	238;293;238;304;304;304	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	N	304;238;304;293;304;107	ENSP00000353788:D304N;ENSP00000370953:D238N;ENSP00000352839:D304N;ENSP00000433258:D293N;ENSP00000370950:D304N	ENSP00000334093:D107N	D	+	1	0	NPSR1	34854685	0.979000	0.34478	0.998000	0.56505	0.675000	0.39556	1.190000	0.32126	0.306000	0.22856	0.655000	0.94253	GAC		0.493	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		84	150	0	0	0	1	0	84	150					A	34888160	G	A	34888160	3	1	48	1	0	0	0	0	1	0	0	0	10609	942	33	3	940	3	NPSR1	7	34888160	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2361254	34888160	124250503	1916	6384										
ANLN	54443	broad.mit.edu	37	chr7	36459027	36459027	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaacaggaagatgcactgaAtatctcctcaatgtctttac	7	9	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:36459027A>C	ENST00000265748.2	+	10	2029	c.1808A>C	c.(1807-1809)aAt>aCt	p.N603T	ANLN_ENST00000396068.2_Missense_Mutation_p.N566T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	603	Interaction with F-actin.				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)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GATGCACTGAATATCTCCTCA	0.443																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(1807-1809)aAt>aCt		anillin, actin binding protein							141	121	128					7																	36459027		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36459027A>C	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.1808A>C	7.37:g.36459027A>C	ENSP00000265748:p.Asn603Thr		Somatic				ANLN_ENST00000396068.2_Missense_Mutation_p.N566T	p.N603T	NM_018685.2	NP_061155.2	WXS	Illumina GAIIx	Phase_I	Q9NQW6	ANLN_HUMAN			10	2029	+			603			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.1808A>C	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790436	0.50102	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.23147	1.92;2.17	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	M	0.61703	1.905	0.80722	D	1	D;P;P;P	0.65815	0.995;0.872;0.922;0.872	P;B;P;B	0.56088	0.791;0.358;0.561;0.358	T	0.26189	-1.0110	10	0.45353	T	0.12	-15.7558	15.4594	0.75342	1.0:0.0:0.0:0.0	.	480;565;566;603	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	T	603;566	ENSP00000265748:N603T;ENSP00000379380:N566T	ENSP00000265748:N603T	N	+	2	0	ANLN	36425552	1.000000	0.71417	0.758000	0.31321	0.033000	0.12548	8.880000	0.92407	2.070000	0.61991	0.533000	0.62120	AAT		0.443	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		29	32	0	0	0	1	0	29	32					C	36459027	A	C	36459027	3	2	48	1	0	0	0	0	1	0	0	0	694	101	4	4	1846	4	ANLN	7	36459027	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1570867	36459027	122679636	1917	6385										
ELMO1	9844	broad.mit.edu	37	chr7	37264564	37264564	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcatggctattgagcaccatCgactccaaaatggccaagga	9	11	1	1	rs148167670		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:37264564C>T	ENST00000310758.4	-	9	1268	c.621G>A	c.(619-621)tcG>tcA	p.S207S	ELMO1_ENST00000448602.1_Silent_p.S207S|ELMO1_ENST00000442504.1_Silent_p.S207S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	207					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.S207S(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						TGAGCACCATCGACTCCAAAA	0.502													C|||	1	0.000199681	0	0	5008	,	,		20137	0		0.001	False		,,,				2504	0					ENST00000310758.4																			1	Substitution - coding silent(1)	p.S207S(1)	endometrium(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.(619-621)tcG>tcA		engulfment and cell motility 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	126	104	111		621,621,621	-9.2	0.8	7	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ELMO1	NM_001206480.1,NM_001206482.1,NM_014800.10	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	207/728,207/728,207/728	37264564	1,13005	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.chr7:37264564C>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.621G>A	7.37:g.37264564C>T			Somatic				ELMO1_ENST00000442504.1_Silent_p.S207S|ELMO1_ENST00000448602.1_Silent_p.S207S	p.S207S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	WXS	Illumina GAIIx	Phase_I	Q92556	ELMO1_HUMAN			9	1268	-			207					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	c.621G>A	CCDS5449.1																																																																																				0.502	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		21	41	0	0	0	1	0	21	41					T	37264564	C	T	37264564	2	4	48	1	0	0	0	0	0	0	0	1	5067	871	31	1		1	ELMO1	7	37264564	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	805537	37264564	121874099	1918	6386										
TXNDC3	51314	broad.mit.edu	37	chr7	37890277	37890277	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaccttgcagagcaatgcaAcctttattcagaaaattgaa	8	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:37890277A>G	ENST00000199447.4	+	5	510	c.138A>G	c.(136-138)caA>caG	p.Q46Q	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Silent_p.Q46Q	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	46	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GAGCAATGCAACCTTTATTCA	0.343																																						ENST00000199447.4																			0											c.(136-138)caA>caG		NME/NM23 family member 8							110	121	117					7																	37890277		2203	4300	6503	SO:0001819	synonymous_variant	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37890277A>G	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.138A>G	7.37:g.37890277A>G			Somatic				EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Silent_p.Q46Q	p.Q46Q	NM_016616.4	NP_057700.3	WXS	Illumina GAIIx	Phase_I	Q8N427	TXND3_HUMAN			5	510	+			46			Thioredoxin.		Q9NZH1	Silent	SNP	ENST00000199447.4	37	c.138A>G	CCDS5452.1																																																																																				0.343	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		19	35	0	0	0	1	0	19	35					G	37890277	A	G	37890277	2	3	48	1	0	0	0	0	0	0	0	1	16813	40	2	4		4	TXNDC3	7	37890277	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	625713	37890277	121248386	1919	6387										
AMPH	273	broad.mit.edu	37	chr7	38431504	38431504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtctcgctggtggggcccgGaggagccgcgtcctcggtgg	19	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:38431504G>A	ENST00000356264.2	-	19	1938	c.1723C>T	c.(1723-1725)Ccg>Tcg	p.P575S	AMPH_ENST00000325590.5_Missense_Mutation_p.P533S|AMPH_ENST00000428293.2_Missense_Mutation_p.P533S|AMPH_ENST00000471913.1_5'Flank	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	575					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.P575S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTGGGGCCCGGAGGAGCCGCG	0.612																																						ENST00000356264.2																			1	Substitution - Missense(1)	p.P575S(1)	skin(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1723-1725)Ccg>Tcg		amphiphysin							58	55	56					7																	38431504		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38431504G>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1723C>T	7.37:g.38431504G>A	ENSP00000348602:p.Pro575Ser		Somatic				AMPH_ENST00000325590.5_Missense_Mutation_p.P533S|AMPH_ENST00000428293.2_Missense_Mutation_p.P533S	p.P575S	NM_001635.3	NP_001626.1	WXS	Illumina GAIIx	Phase_I	P49418	AMPH_HUMAN			19	1938	-			575					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1723C>T	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.464|8.464	0.855872|0.855872	0.17106|0.17106	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242|ENST00000441628	T;T;T|.	0.58940|.	0.33;0.33;0.3|.	5.5|5.5	0.158|0.158	0.14942|0.14942	.|.	1.493720|.	0.03864|.	N|.	0.274409|.	T|T	0.30324|0.30324	0.0761|0.0761	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B;B|.	0.15930|.	0.015;0.015;0.013|.	B;B;B|.	0.15870|.	0.014;0.007;0.007|.	T|T	0.27020|0.27020	-1.0086|-1.0086	10|5	0.13108|.	T|.	0.6|.	0.6635|0.6635	11.0424|11.0424	0.47838|0.47838	0.0:0.338:0.4299:0.2321|0.0:0.338:0.4299:0.2321	.|.	533;575;463|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	S|F	533;575;533;477|457	ENSP00000317441:P533S;ENSP00000348602:P575S;ENSP00000390734:P533S|.	ENSP00000317441:P533S|.	P|S	-|-	1|2	0|0	AMPH|AMPH	38398029|38398029	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	0.694000|0.694000	0.25512|0.25512	-0.268000|-0.268000	0.09312|0.09312	0.591000|0.591000	0.81541|0.81541	CCG|TCC		0.612	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		24	36	0	0	0	1	0	24	36					A	38431504	G	A	38431504	3	1	48	1	0	0	0	0	1	0	0	0	588	1174	41	3	376	3	AMPH	7	38431504	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	541227	38431504	120707159	1920	6388										
C7orf36	57002	broad.mit.edu	37	chr7	39611989	39611989	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtatgtgctcaaacatctgaAatcaatcactccaccgtccc	5	14	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:39611989A>T	ENST00000223273.2	+	3	408	c.365A>T	c.(364-366)aAa>aTa	p.K122I	YAE1D1_ENST00000432096.2_Intron|YAE1D1_ENST00000448268.1_3'UTR	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	122																	AAACATCTGAAATCAATCACT	0.378																																						ENST00000223273.2																			0											c.(364-366)aAa>aTa		Yae1 domain containing 1							132	121	124					7																	39611989		2203	4300	6503	SO:0001583	missense	57002							g.chr7:39611989A>T	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.365A>T	7.37:g.39611989A>T	ENSP00000223273:p.Lys122Ile		Somatic				YAE1D1_ENST00000448268.1_3'UTR|YAE1D1_ENST00000432096.2_Intron	p.K122I	NM_020192.3	NP_064577.1	WXS	Illumina GAIIx	Phase_I	Q9NRH1	CG036_HUMAN			3	408	+			122					A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Missense_Mutation	SNP	ENST00000223273.2	37	c.365A>T	CCDS5459.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.817318	0.50633	.	.	ENSG00000241127	ENST00000223273	T	0.49139	0.79	5.93	3.63	0.41609	.	0.679220	0.15527	N	0.257692	T	0.42675	0.1213	L	0.60455	1.87	0.22918	N	0.998567	P	0.45902	0.868	B	0.37047	0.24	T	0.34153	-0.9840	10	0.56958	D	0.05	-0.5911	12.8451	0.57825	0.6948:0.3052:0.0:0.0	.	122	Q9NRH1	CG036_HUMAN	I	122	ENSP00000223273:K122I	ENSP00000223273:K122I	K	+	2	0	C7orf36	39578514	0.870000	0.30015	0.977000	0.42913	0.963000	0.63663	1.633000	0.37113	1.062000	0.40625	-0.313000	0.08912	AAA		0.378	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192		19	42	0	0	0	1	0	19	42					T	39611989	A	T	39611989	3	4	48	1	0	0	0	0	1	0	0	0	2392	14	1	4	375	4	C7orf36	7	39611989	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1180485	39611989	119526674	1921	6389										
C7orf10	79783	broad.mit.edu	37	chr7	40899972	40899972	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggccaggccgcccccgctgcTcgggcagcacacaacgcaca	12	19	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:40899972T>C	ENST00000335693.4	+	14	1255	c.1232T>C	c.(1231-1233)cTc>cCc	p.L411P	C7orf10_ENST00000309930.5_Missense_Mutation_p.L437P|C7orf10_ENST00000401647.2_Missense_Mutation_p.L363P|C7orf10_ENST00000464028.1_3'UTR	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		411					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						CCCCCGCTGCTCGGGCAGCAC	0.567																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1309-1311)cTc>cCc		chromosome 7 open reading frame 10							99	109	106					7																	40899972		2097	4224	6321	SO:0001583	missense	79783						transferase activity	g.chr7:40899972T>C																												ENST00000335693.4:c.1232T>C	7.37:g.40899972T>C	ENSP00000338475:p.Leu411Pro		Somatic				C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000401647.2_Missense_Mutation_p.L363P|C7orf10_ENST00000335693.4_Missense_Mutation_p.L411P	p.L437P	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	WXS	Illumina GAIIx	Phase_I	Q9HAC7	CG010_HUMAN			15	1334	+			411					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.1310T>C	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.100556	0.76983	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.88818	-2.43;-1.07;-1.07	5.51	5.51	0.81932	CoA-transferase family III domain (1);	0.068307	0.56097	D	0.000028	D	0.94571	0.8251	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.77557	0.969;0.977;0.99	D	0.95283	0.8388	10	0.87932	D	0	-10.5072	15.2629	0.73637	0.0:0.0:0.0:1.0	.	363;411;400	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	P	437;363;411	ENSP00000312054:L437P;ENSP00000385222:L363P;ENSP00000338475:L411P	ENSP00000312054:L437P	L	+	2	0	C7orf10	40866497	0.999000	0.42202	0.979000	0.43373	0.893000	0.52053	3.696000	0.54757	2.081000	0.62600	0.533000	0.62120	CTC		0.567	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			43	96	0	0	0	1	0	43	96					C	40899972	T	C	40899972	3	2	48	1	0	0	0	0	1	0	0	0	2378	1551	54	4	1257	4	C7orf10	7	40899972	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1287983	40899972	118238691	1922	6390										
GLI3	2737	broad.mit.edu	37	chr7	42005605	42005605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgctgaggctgctgaagcgCggcacacgaggcagggccag	17	12	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:42005605C>T	ENST00000395925.3	-	15	3150	c.3066G>A	c.(3064-3066)ccG>ccA	p.P1022P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1022					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						TGCTGAAGCGCGGCACACGAG	0.736									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.(3064-3066)ccG>ccA		GLI family zinc finger 3							12	14	13					7																	42005605		2194	4282	6476	SO:0001819	synonymous_variant	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.chr7:42005605C>T		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.3066G>A	7.37:g.42005605C>T			Somatic				GLI3_ENST00000479210.1_5'UTR	p.P1022P	NM_000168.5	NP_000159.3	WXS	Illumina GAIIx	Phase_I	P10071	GLI3_HUMAN			15	3150	-			1022					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.3066G>A	CCDS5465.1																																																																																				0.736	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		12	19	0	0	0	1	0	12	19					T	42005605	C	T	42005605	2	4	48	1	0	0	0	0	0	0	0	1	6447	755	27	1		1	GLI3	7	42005605	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1105633	42005605	117133058	1923	6391										
GLI3	2737	broad.mit.edu	37	chr7	42116368	42116368	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacatatgcaatggaggaatCggagatggatcgtaatggta	13	4	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:42116368C>T	ENST00000395925.3	-	4	540	c.456G>A	c.(454-456)ccG>ccA	p.P152P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	152					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						ATGGAGGAATCGGAGATGGAT	0.423									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.(454-456)ccG>ccA		GLI family zinc finger 3							154	132	140					7																	42116368		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:42116368C>T		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.456G>A	7.37:g.42116368C>T			Somatic				GLI3_ENST00000479210.1_5'UTR	p.P152P	NM_000168.5	NP_000159.3	WXS	Illumina GAIIx	Phase_I	P10071	GLI3_HUMAN			4	540	-			152					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.456G>A	CCDS5465.1																																																																																				0.423	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		23	29	0	0	0	1	0	23	29					T	42116368	C	T	42116368	2	4	48	1	0	0	0	0	0	0	0	1	6447	871	31	1		1	GLI3	7	42116368	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	110763	42116368	117022295	1924	6392										
POLD2	5425	broad.mit.edu	37	chr7	44154947	44154947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgccacaaaagtagacatgcGggcactctgggaagatgaac	12	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:44154947G>A	ENST00000406581.2	-	11	1845	c.1196C>T	c.(1195-1197)cCg>cTg	p.P399L	POLD2_ENST00000223361.3_Missense_Mutation_p.P385L|POLD2_ENST00000452185.1_Missense_Mutation_p.P399L	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	399					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.P399Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GTAGACATGCGGGCACTCTGG	0.532																																						ENST00000406581.2																			2	Substitution - Missense(2)	p.P399Q(2)	lung(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						c.(1195-1197)cCg>cTg		polymerase (DNA directed), delta 2, accessory subunit							89	98	95					7																	44154947		2203	4300	6503	SO:0001583	missense	5425				base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding	g.chr7:44154947G>A		CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"DNA polymerases"	9176	protein-coding gene	gene with protein product	"Pol delta B subunit (p50)", "DNA polymerase delta subunit p50"	600815	"polymerase (DNA directed), delta 2, regulatory subunit (50kD)", "polymerase (DNA directed), delta 2, regulatory subunit 50kDa"			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.1196C>T	7.37:g.44154947G>A	ENSP00000386105:p.Pro399Leu		Somatic				POLD2_ENST00000452185.1_Missense_Mutation_p.P399L|POLD2_ENST00000223361.3_Missense_Mutation_p.P385L	p.P399L	NM_001256879.1	NP_001243808.1	WXS	Illumina GAIIx	Phase_I	P49005	DPOD2_HUMAN			11	1845	-			399					A4D2J4|B2R5S4	Missense_Mutation	SNP	ENST00000406581.2	37	c.1196C>T	CCDS5477.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944686	0.92593	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185	T;T;T	0.73047	-0.71;1.7;-0.71	5.95	5.95	0.96441	DNA polymerase alpha/epsilon, subunit B (1);	0.000000	0.85682	D	0.000000	D	0.89206	0.6649	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.948	D	0.91202	0.4992	10	0.87932	D	0	-29.4197	19.9958	0.97383	0.0:0.0:1.0:0.0	.	399;385	P49005;F8W8R3	DPOD2_HUMAN;.	L	399;385;399	ENSP00000386105:P399L;ENSP00000223361:P385L;ENSP00000395231:P399L	ENSP00000223361:P385L	P	-	2	0	POLD2	44121472	1.000000	0.71417	0.967000	0.41034	0.739000	0.42172	5.679000	0.68160	2.825000	0.97269	0.655000	0.94253	CCG		0.532	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250994.2	NM_001127218		47	65	0	0	0	1	0	47	65					A	44154947	G	A	44154947	3	1	48	1	0	0	0	0	1	0	0	0	12200	1116	39	1	221	1	POLD2	7	44154947	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2038579	44154947	114983716	1925	6393										
OGDH	4967	broad.mit.edu	37	chr7	44739760	44739760	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaccttaaagaagccaacttCgacatcaatcagctatatga	6	10	2	2	rs368953616		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:44739760C>T	ENST00000222673.5	+	19	2493	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	OGDH_ENST00000449767.1_Silent_p.F813F|OGDH_ENST00000444676.1_Silent_p.F832F|OGDH_ENST00000447398.1_Silent_p.F828F|OGDH_ENST00000543843.1_Silent_p.F768F|OGDH_ENST00000439616.2_Silent_p.F667F	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	817					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	AAGCCAACTTCGACATCAATC	0.542																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2449-2451)ttC>ttT		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)	C	,	0,4406		0,0,2203	169	134	146		2439,2451	-10.9	0.1	7		146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	OGDH	NM_001165036.1,NM_002541.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	813/1020,817/1024	44739760	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44739760C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2451C>T	7.37:g.44739760C>T			Somatic				OGDH_ENST00000439616.2_Silent_p.F667F|OGDH_ENST00000543843.1_Silent_p.F768F|OGDH_ENST00000449767.1_Silent_p.F813F|OGDH_ENST00000447398.1_Silent_p.F828F|OGDH_ENST00000444676.1_Silent_p.F832F	p.F817F	NM_002541.3	NP_002532.2	WXS	Illumina GAIIx	Phase_I	Q02218	ODO1_HUMAN			19	2493	+			817					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2451C>T	CCDS34627.1																																																																																				0.542	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			54	100	0	0	0	1	0	54	100					T	44739760	C	T	44739760	2	4	48	1	0	0	0	0	0	0	0	1	10848	883	31	1		1	OGDH	7	44739760	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	584813	44739760	114398903	1926	6394										
ABCA13	154664	broad.mit.edu	37	chr7	48315509	48315509	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agacacctgctttctgaaatGaacaaaggaatcaaaagtat	7	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:48315509G>T	ENST00000435803.1	+	17	6270	c.6246G>T	c.(6244-6246)atG>atT	p.M2082I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2082					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						TTTCTGAAATGAACAAAGGAA	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.(6244-6246)atG>atT		ATP-binding cassette, sub-family A (ABC1), member 13							44	43	43					7																	48315509		1804	4056	5860	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315509G>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.6246G>T	7.37:g.48315509G>T	ENSP00000411096:p.Met2082Ile		Somatic					p.M2082I	NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	Q86UQ4	ABCAD_HUMAN			17	6270	+			2082					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.6246G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	0.061	-1.224177	0.01530	.	.	ENSG00000179869	ENST00000435803	T	0.08984	3.03	4.65	-2.85	0.05734	.	0.626536	0.13997	N	0.348412	T	0.01730	0.0055	N	0.01188	-0.97	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42849	-0.9427	9	.	.	.	.	0.5895	0.00725	0.4172:0.2212:0.1642:0.1974	.	2082	Q86UQ4	ABCAD_HUMAN	I	2082	ENSP00000411096:M2082I	.	M	+	3	0	ABCA13	48286055	0.012000	0.17670	0.000000	0.03702	0.057000	0.15508	0.155000	0.16362	-0.346000	0.08312	0.484000	0.47621	ATG		0.368	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		6	37	1	0	0.0477658	1	0.0484551	6	37					T	48315509	G	T	48315509	3	4	48	1	0	0	0	0	1	0	0	0	31	1290	45	2	6141	2	ABCA13	7	48315509	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3575749	48315509	110823154	1927	6395										
ZPBP	11055	broad.mit.edu	37	chr7	50129291	50129291	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcgaaaagctcttggtaatcGaaccaagtgtccaactatca	8	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:50129291G>A	ENST00000046087.2	-	2	211	c.142C>T	c.(142-144)Cga>Tga	p.R48*	ZPBP_ENST00000419417.1_Nonsense_Mutation_p.R48*	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	48					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)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CTTGGTAATCGAACCAAGTGT	0.284																																						ENST00000046087.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(142-144)Cga>Tga		zona pellucida binding protein							33	34	33					7																	50129291		2203	4298	6501	SO:0001587	stop_gained	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50129291G>A	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.142C>T	7.37:g.50129291G>A	ENSP00000046087:p.Arg48*		Somatic				ZPBP_ENST00000419417.1_Nonsense_Mutation_p.R48*	p.R48*	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	WXS	Illumina GAIIx	Phase_I	Q9BS86	ZPBP1_HUMAN			2	211	-	Glioma(55;0.08)|all_neural(89;0.245)		48					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Nonsense_Mutation	SNP	ENST00000046087.2	37	c.142C>T	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259065	0.95368	.	.	ENSG00000042813	ENST00000046087;ENST00000419417;ENST00000450231	.	.	.	5.49	4.6	0.57074	.	0.365143	0.20359	N	0.093885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.6381	13.7355	0.62815	0.0:0.0:0.8368:0.1632	.	.	.	.	X	48;48;9	.	.	R	-	1	2	ZPBP	50099837	0.956000	0.32656	0.839000	0.33178	0.855000	0.48748	2.010000	0.40913	1.425000	0.47237	0.557000	0.71058	CGA		0.284	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		5	11	0	0	0	1	0	5	11					A	50129291	G	A	50129291	4	1	48	1	0	0	0	0	0	1	0	0	18234	1066	37	1	941	1	ZPBP	7	50129291	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1813782	50129291	109009372	1928	6396										
FIGNL1	63979	broad.mit.edu	37	chr7	50513646	50513646	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcacttgccaattagagttTtaccagtcccaggaggacca	9	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:50513646T>G	ENST00000419119.1	-	2	2893	c.1340A>C	c.(1339-1341)aAa>aCa	p.K447T	FIGNL1_ENST00000433017.1_Missense_Mutation_p.K447T|FIGNL1_ENST00000356889.4_Missense_Mutation_p.K447T|FIGNL1_ENST00000395556.2_Missense_Mutation_p.K447T			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	447					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AATTAGAGTTTTACCAGTCCC	0.458																																						ENST00000419119.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(1339-1341)aAa>aCa		fidgetin-like 1							52	54	53					7																	50513646		2203	4300	6503	SO:0001583	missense	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50513646T>G	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"ATPases / AAA-type"	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1340A>C	7.37:g.50513646T>G	ENSP00000410811:p.Lys447Thr		Somatic				FIGNL1_ENST00000356889.4_Missense_Mutation_p.K447T|FIGNL1_ENST00000433017.1_Missense_Mutation_p.K447T|FIGNL1_ENST00000395556.2_Missense_Mutation_p.K447T	p.K447T			WXS	Illumina GAIIx	Phase_I	Q6PIW4	FIGL1_HUMAN			2	2893	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	447					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	c.1340A>C	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.302283	0.81136	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.99771	-6.71;-6.71;-6.71;-6.71	5.99	5.99	0.97316	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	H	0.99545	4.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96114	0.9079	10	0.87932	D	0	-19.4678	15.6754	0.77316	0.0:0.0:0.0:1.0	.	447	Q6PIW4	FIGL1_HUMAN	T	447	ENSP00000349356:K447T;ENSP00000378924:K447T;ENSP00000399997:K447T;ENSP00000410811:K447T	ENSP00000349356:K447T	K	-	2	0	FIGNL1	50481140	1.000000	0.71417	0.681000	0.30009	0.998000	0.95712	6.290000	0.72712	2.291000	0.77112	0.533000	0.62120	AAA		0.458	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		19	24	0	0	0	1	0	19	24					G	50513646	T	G	50513646	3	3	48	1	0	0	0	0	1	0	0	0	5900	1841	64	4	688	4	FIGNL1	7	50513646	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	384355	50513646	108625017	1929	6397										
FIGNL1	63979	broad.mit.edu	37	chr7	50514215	50514215	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagaaccataaaaagacttCctctgtggattttcacaggc	7	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:50514215C>A	ENST00000419119.1	-	2	2324	c.771G>T	c.(769-771)agG>agT	p.R257S	FIGNL1_ENST00000433017.1_Missense_Mutation_p.R257S|FIGNL1_ENST00000356889.4_Missense_Mutation_p.R257S|FIGNL1_ENST00000395556.2_Missense_Mutation_p.R257S			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	257					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AAAAAGACTTCCTCTGTGGAT	0.388																																						ENST00000419119.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(769-771)agG>agT		fidgetin-like 1							82	85	84					7																	50514215		2203	4300	6503	SO:0001583	missense	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50514215C>A	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"ATPases / AAA-type"	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.771G>T	7.37:g.50514215C>A	ENSP00000410811:p.Arg257Ser		Somatic				FIGNL1_ENST00000356889.4_Missense_Mutation_p.R257S|FIGNL1_ENST00000433017.1_Missense_Mutation_p.R257S|FIGNL1_ENST00000395556.2_Missense_Mutation_p.R257S	p.R257S			WXS	Illumina GAIIx	Phase_I	Q6PIW4	FIGL1_HUMAN			2	2324	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	257					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	c.771G>T	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	C	1.936	-0.444785	0.04604	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.86	0.608	0.17569	.	0.226563	0.41194	D	0.000933	D	0.89420	0.6710	L	0.59436	1.845	0.42438	D	0.992701	B	0.17465	0.022	B	0.11329	0.006	T	0.79794	-0.1653	10	0.30078	T	0.28	-9.8519	10.0261	0.42072	0.0:0.4094:0.0:0.5906	.	257	Q6PIW4	FIGL1_HUMAN	S	257	ENSP00000349356:R257S;ENSP00000378924:R257S;ENSP00000399997:R257S;ENSP00000410811:R257S	ENSP00000349356:R257S	R	-	3	2	FIGNL1	50481709	0.675000	0.27558	0.000000	0.03702	0.008000	0.06430	0.123000	0.15708	-0.175000	0.10725	-0.794000	0.03295	AGG		0.388	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		5	59	1	0	0.014758	1	0.015099	5	59					A	50514215	C	A	50514215	3	1	48	1	0	0	0	0	1	0	0	0	5900	854	30	2	1257	2	FIGNL1	7	50514215	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	569	50514215	108624448	1930	6398										
COBL	23242	broad.mit.edu	37	chr7	51111094	51111094	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actcacctcagatgtgagttCtcagagccattcttctccca	6	14	5	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:51111094C>A	ENST00000265136.7	-	8	1557	c.1392G>T	c.(1390-1392)gaG>gaT	p.E464D	COBL_ENST00000395542.2_Missense_Mutation_p.E546D	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	464					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)					GATGTGAGTTCTCAGAGCCAT	0.562																																					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.(1636-1638)gaG>gaT		cordon-bleu WH2 repeat protein							77	75	76					7																	51111094		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51111094C>A	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1392G>T	7.37:g.51111094C>A	ENSP00000265136:p.Glu464Asp		Somatic				COBL_ENST00000265136.7_Missense_Mutation_p.E464D	p.E546D			WXS	Illumina GAIIx	Phase_I	O75128	COBL_HUMAN			10	1822	-	Glioma(55;0.08)		464					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.1638G>T	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.786|5.786	0.329322|0.329322	0.10956|0.10956	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542|ENST00000452534	T;T;T;T|.	0.21734|.	1.99;1.99;1.99;1.99|.	5.5|5.5	-0.728|-0.728	0.11162|0.11162	.|.	1.000060|1.000060	0.08071|0.08071	N|N	0.999889|0.999889	T|.	0.15089|.	0.0364|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;P;B;B|.	0.36249|.	0.545;0.545;0.151;0.344|.	B;B;B;B|.	0.29077|.	0.098;0.098;0.028;0.097|.	T|.	0.26503|.	-1.0101|.	10|.	0.17369|0.16896	T|T	0.5|0.51	.|.	4.9947|4.9947	0.14233|0.14233	0.0:0.4138:0.1485:0.4376|0.0:0.4138:0.1485:0.4376	.|.	464;521;464;546|.	O75128-3;O75128-7;O75128;O75128-2|.	.;.;COBL_HUMAN;.|.	D|X	464;356;349;546|440	ENSP00000265136:E464D;ENSP00000401204:E356D;ENSP00000413498:E349D;ENSP00000378912:E546D|.	ENSP00000265136:E464D|ENSP00000405059:E440X	E|E	-|-	3|1	2|0	COBL|COBL	51078588|51078588	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.738000|-0.738000	0.04871|0.04871	-0.358000|-0.358000	0.08162|0.08162	0.655000|0.655000	0.94253|0.94253	GAG|GAA		0.562	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		7	64	1	0	0.00198382	1	0.00207034	7	64					A	51111094	C	A	51111094	3	1	48	1	0	0	0	0	1	0	0	0	3655	912	32	2	2417	2	COBL	7	51111094	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	596879	51111094	108027569	1931	6399										
SEPT14	346288	broad.mit.edu	37	chr7	55873084	55873084	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttcaaagatttcttgaaaaCtaaagagaaatgttttctta	5	5	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:55873084C>A	ENST00000388975.3	-	9	1103		c.e9-1			NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14						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)			TTCTTGAAAACTAAAGAGAAA	0.398																																						ENST00000388975.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.e9-1		septin 14							44	40	42					7																	55873084		2198	4295	6493	SO:0001630	splice_region_variant	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55873084C>A	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"Septins"	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.987-1G>T	7.37:g.55873084C>A			Somatic						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)		9	1103	-	Breast(14;0.214)							A6NCC2|B4DXD6	Splice_Site	SNP	ENST00000388975.3	37		CCDS5519.2	.	.	.	.	.	.	.	.	.	.	c	16.37	3.105599	0.56291	.	.	ENSG00000154997	ENST00000388975	.	.	.	3.05	3.05	0.35203	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.32	0.54979	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEPT14	55840578	1.000000	0.71417	0.992000	0.48379	0.824000	0.46624	5.980000	0.70516	2.012000	0.59069	0.650000	0.86243	.		0.398	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366	Intron	4	11	1	0	0.00909568	1	0.00935351	4	11					A	55873084	C	A	55873084	5	1	48	1	0	0	0	0	0	0	1	0	14078	579	20	5	320	5	SEPT14	7	55873084	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4761990	55873084	103265579	1932	6400										
ZNF479	90827	broad.mit.edu	37	chr7	57188340	57188340	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttctctccagtatgagttCtcttatgtctagtaaggttt	8	7	3	1	rs186421110	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:57188340C>A	ENST00000331162.4	-	5	1052	c.782G>T	c.(781-783)aGa>aTa	p.R261I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAGTTCTCTTATGTCT	0.423																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(781-783)aGa>aTa		zinc finger protein 479							42	44	43					7																	57188340		2115	4247	6362	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188340C>A	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.782G>T	7.37:g.57188340C>A	ENSP00000333776:p.Arg261Ile		Somatic					p.R261I	NM_033273.1	NP_150376.1	WXS	Illumina GAIIx	Phase_I	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1052	-			261						Missense_Mutation	SNP	ENST00000331162.4	37	c.782G>T	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	2.858	-0.236844	0.05944	.	.	ENSG00000185177	ENST00000331162	T	0.02446	4.29	1.01	-0.114	0.13564	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03263	0.0095	M	0.72624	2.21	0.36682	D	0.879092	B	0.10296	0.003	B	0.04013	0.001	T	0.37033	-0.9723	9	0.22109	T	0.4	.	1.8766	0.03219	0.3238:0.4445:0.0:0.2317	.	261	Q96JC4	ZN479_HUMAN	I	261	ENSP00000333776:R261I	ENSP00000333776:R261I	R	-	2	0	ZNF479	57192282	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.004000	0.13106	-0.385000	0.07833	-0.383000	0.06682	AGA		0.423	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		18	21	1	0	5.01169e-05	1	5.45927e-05	18	21					A	57188340	C	A	57188340	3	1	48	1	0	0	0	0	1	0	0	0	17948	913	32	2	796	2	ZNF479	7	57188340	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1315256	57188340	101950323	1933	6401										
ZNF716	441234	broad.mit.edu	37	chr7	57529030	57529030	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacacttactaactacaagaGaattcatactggagagaaac	6	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:57529030G>T	ENST00000420713.1	+	4	975	c.863G>T	c.(862-864)aGa>aTa	p.R288I		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	288					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						AACTACAAGAGAATTCATACT	0.408																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(862-864)aGa>aTa		zinc finger protein 716							38	39	39					7																	57529030		692	1591	2283	SO:0001583	missense	441234							g.chr7:57529030G>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.863G>T	7.37:g.57529030G>T	ENSP00000394248:p.Arg288Ile		Somatic					p.R288I	NM_001159279.1	NP_001152751.1	WXS	Illumina GAIIx	Phase_I					4	975	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.863G>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	G	0.668	-0.802917	0.02841	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.02446	4.29	0.118	-0.237	0.13061	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04543	0.0124	M	0.83603	2.65	0.28985	N	0.888425	B	0.15141	0.012	B	0.10450	0.005	T	0.39143	-0.9628	9	0.25751	T	0.34	.	3.8038	0.08768	0.6553:0.0:0.3447:0.0	.	276	A6NP11	ZN716_HUMAN	I	288;276	ENSP00000394248:R288I	ENSP00000387687:R276I	R	+	2	0	ZNF716	57532972	0.001000	0.12720	0.003000	0.11579	0.003000	0.03518	0.543000	0.23237	-1.064000	0.03172	-1.050000	0.02344	AGA		0.408	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		22	10	1	0	1.2644e-06	1	1.4261e-06	22	10					T	57529030	G	T	57529030	3	4	48	1	0	0	0	0	1	0	0	0	18134	942	33	2	877	2	ZNF716	7	57529030	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	340690	57529030	101609633	1934	6402										
ZNF680	340252	broad.mit.edu	37	chr7	63982090	63982090	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcttcacatttgtagggttTctctccagtatgaattttct	6	8	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:63982090T>C	ENST00000309683.6	-	4	1193	c.1042A>G	c.(1042-1044)Aaa>Gaa	p.K348E	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TTGTAGGGTTTCTCTCCAGTA	0.343																																						ENST00000309683.6																			0				breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27						c.(1042-1044)Aaa>Gaa		zinc finger protein 680							30	33	32					7																	63982090		2174	4286	6460	SO:0001583	missense	340252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63982090T>C	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1042A>G	7.37:g.63982090T>C	ENSP00000309330:p.Lys348Glu		Somatic					p.K348E	NM_178558.4	NP_848653.2	WXS	Illumina GAIIx	Phase_I	Q8NEM1	ZN680_HUMAN			4	1193	-		Lung NSC(55;0.118)|all_lung(88;0.243)	348					B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	c.1042A>G	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	t	16.70	3.195365	0.58126	.	.	ENSG00000173041	ENST00000309683	T	0.27104	1.69	1.36	1.36	0.22044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39600	0.1084	L	0.58354	1.805	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.24048	-1.0171	9	0.87932	D	0	.	4.7382	0.12999	0.0:0.0:0.0:1.0	.	348	Q8NEM1	ZN680_HUMAN	E	348	ENSP00000309330:K348E	ENSP00000309330:K348E	K	-	1	0	ZNF680	63619525	1.000000	0.71417	0.914000	0.36105	0.985000	0.73830	3.937000	0.56575	0.588000	0.29660	0.402000	0.26972	AAA		0.343	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		11	44	0	0	0	1	0	11	44					C	63982090	T	C	63982090	3	2	48	1	0	0	0	0	1	0	0	0	18102	1792	62	4	554	4	ZNF680	7	63982090	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	6453060	63982090	95156573	1935	6403										
ZNF680	340252	broad.mit.edu	37	chr7	63982573	63982573	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catgcaaaatgatttgccacAttctttacatttgaaaacct	4	9	1	2	rs375747442		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:63982573A>C	ENST00000309683.6	-	4	710	c.559T>G	c.(559-561)Tgt>Ggt	p.C187G	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GATTTGCCACATTCTTTACAT	0.294																																						ENST00000309683.6																			0				breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27						c.(559-561)Tgt>Ggt		zinc finger protein 680							56	53	54					7																	63982573		2201	4298	6499	SO:0001583	missense	340252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63982573A>C	AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.559T>G	7.37:g.63982573A>C	ENSP00000309330:p.Cys187Gly		Somatic				ZNF680_ENST00000476563.1_5'UTR	p.C187G	NM_178558.4	NP_848653.2	WXS	Illumina GAIIx	Phase_I	Q8NEM1	ZN680_HUMAN			4	710	-		Lung NSC(55;0.118)|all_lung(88;0.243)	187					B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	ENST00000309683.6	37	c.559T>G	CCDS34644.1	.	.	.	.	.	.	.	.	.	.	a	14.90	2.672395	0.47781	.	.	ENSG00000173041	ENST00000309683	D	0.99974	-10.2	1.36	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.99967	0.9988	H	0.97340	3.985	0.80722	D	1	P	0.35527	0.507	P	0.44477	0.451	D	0.94415	0.7635	9	0.72032	D	0.01	.	4.7382	0.12999	1.0:0.0:0.0:0.0	.	187	Q8NEM1	ZN680_HUMAN	G	187	ENSP00000309330:C187G	ENSP00000309330:C187G	C	-	1	0	ZNF680	63620008	0.973000	0.33851	0.036000	0.18154	0.407000	0.30961	4.130000	0.57964	0.588000	0.29660	0.402000	0.26972	TGT		0.294	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344568.1	NM_178558		9	16	0	0	0	1	0	9	16					C	63982573	A	C	63982573	3	2	48	1	0	0	0	0	1	0	0	0	18102	217	8	4	1037	4	ZNF680	7	63982573	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	483	63982573	95156090	1936	6404										
TPST1	8460	broad.mit.edu	37	chr7	65705768	65705768	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgtggtcacggtcaagtaAagagaagatccgcctggatg	14	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:65705768A>G	ENST00000304842.5	+	2	781	c.356A>G	c.(355-357)aAa>aGa	p.K119R	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	119					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CGGTCAAGTAAAGAGAAGATC	0.522																																						ENST00000304842.5																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(355-357)aAa>aGa		tyrosylprotein sulfotransferase 1							110	107	108					7																	65705768		2203	4300	6503	SO:0001583	missense	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65705768A>G	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.356A>G	7.37:g.65705768A>G	ENSP00000302413:p.Lys119Arg		Somatic				TPST1_ENST00000480281.1_Intron	p.K119R	NM_003596.3	NP_003587.1	WXS	Illumina GAIIx	Phase_I	O60507	TPST1_HUMAN			2	781	+			119					A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	37	c.356A>G	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	A	10.32	1.316498	0.23908	.	.	ENSG00000169902	ENST00000304842;ENST00000544114;ENST00000451388	.	.	.	5.78	4.64	0.57946	Sulfotransferase domain (1);	0.049814	0.85682	D	0.000000	T	0.43590	0.1254	L	0.28740	0.885	0.45161	D	0.998174	B;B	0.14805	0.004;0.011	B;B	0.20577	0.018;0.03	T	0.21449	-1.0245	9	0.20046	T	0.44	-17.8675	11.0555	0.47915	0.9276:0.0:0.0724:0.0	.	119;119	F5H7U7;O60507	.;TPST1_HUMAN	R	119	.	ENSP00000302413:K119R	K	+	2	0	TPST1	65343203	1.000000	0.71417	0.981000	0.43875	0.998000	0.95712	4.477000	0.60223	1.016000	0.39470	0.477000	0.44152	AAA		0.522	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		25	41	0	0	0	1	0	25	41					G	65705768	A	G	65705768	3	3	48	1	0	0	0	0	1	0	0	0	16442	14	1	4	358	4	TPST1	7	65705768	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1723195	65705768	93432895	1937	6405										
AUTS2	26053	broad.mit.edu	37	chr7	70227923	70227923	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcagggccgattgtccccaaGatatcgggtctagagagaag	14	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:70227923G>T	ENST00000342771.4	+	7	1131	c.810G>T	c.(808-810)aaG>aaT	p.K270N	AUTS2_ENST00000406775.2_Missense_Mutation_p.K270N	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	270										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)		TTGTCCCCAAGATATCGGGTC	0.547																																						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.(808-810)aaG>aaT		autism susceptibility candidate 2							172	174	173					7																	70227923		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70227923G>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.810G>T	7.37:g.70227923G>T	ENSP00000344087:p.Lys270Asn		Somatic				AUTS2_ENST00000406775.2_Missense_Mutation_p.K270N	p.K270N	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	1131	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	270					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.810G>T	CCDS5539.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.50|19.50	3.838419|3.838419	0.71373|0.71373	.|.	.|.	ENSG00000158321|ENSG00000158321	ENST00000416482|ENST00000406775;ENST00000342771	.|T;T	.|0.52754	.|0.65;0.76	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	.|0.047227	.|0.85682	.|D	.|0.000000	T|T	0.53417|0.53417	0.1795|0.1795	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	.|D;D	.|0.65815	.|0.995;0.995	.|P;P	.|0.61592	.|0.891;0.891	T|T	0.53136|0.53136	-0.8481|-0.8481	5|9	.|.	.|.	.|.	-22.3609|-22.3609	5.9132|5.9132	0.19039|0.19039	0.2283:0.0:0.7717:0.0|0.2283:0.0:0.7717:0.0	.|.	.|270;270	.|Q8WXX7-2;Q8WXX7	.|.;AUTS2_HUMAN	Y|N	51|270	.|ENSP00000385263:K270N;ENSP00000344087:K270N	.|.	D|K	+|+	1|3	0|2	AUTS2|AUTS2	69865859|69865859	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.701000|4.701000	0.61810|0.61810	2.561000|2.561000	0.86390|0.86390	0.557000|0.557000	0.71058|0.71058	GAT|AAG		0.547	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			80	144	1	0	9.59377e-39	1	1.38358e-38	80	144					T	70227923	G	T	70227923	3	4	48	1	0	0	0	0	1	0	0	0	1225	933	33	2	981	2	AUTS2	7	70227923	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4522155	70227923	88910740	1938	6406										
WBSCR17	64409	broad.mit.edu	37	chr7	70881033	70881033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcttctttgatgcccacgtgGaattcaccgctggctggtag	12	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:70881033G>A	ENST00000333538.5	+	4	1382	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	250	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGCCCACGTGGAATTCACCGC	0.567																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(748-750)Gaa>Aaa		Williams-Beuren syndrome chromosome region 17							67	57	60					7																	70881033		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70881033G>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.748G>A	7.37:g.70881033G>A	ENSP00000329654:p.Glu250Lys		Somatic				WBSCR17_ENST00000498380.2_3'UTR	p.E250K	NM_022479.1	NP_071924.1	WXS	Illumina GAIIx	Phase_I	Q6IS24	GLTL3_HUMAN			4	1382	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	250			Catalytic subdomain A.		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.748G>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	33	5.240135	0.95240	.	.	ENSG00000185274	ENST00000333538	T	0.64260	-0.09	5.04	5.04	0.67666	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.81861	0.4912	M	0.87900	2.915	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.85629	0.1269	10	0.87932	D	0	.	17.3775	0.87396	0.0:0.0:1.0:0.0	.	250	Q6IS24	GLTL3_HUMAN	K	250	ENSP00000329654:E250K	ENSP00000329654:E250K	E	+	1	0	WBSCR17	70518969	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.378000	0.97191	2.351000	0.79841	0.462000	0.41574	GAA		0.567	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		18	45	0	0	0	1	0	18	45					A	70881033	G	A	70881033	3	1	48	1	0	0	0	0	1	0	0	0	17279	1175	41	3	762	3	WBSCR17	7	70881033	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	653110	70881033	88257630	1939	6407										
WBSCR17	64409	broad.mit.edu	37	chr7	70885996	70885996	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttgaggtgcagcggtacgaGaactcggcccacgggtacag	15	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:70885996G>T	ENST00000333538.5	+	5	1501	c.867G>T	c.(865-867)gaG>gaT	p.E289D	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	289					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGCGGTACGAGAACTCGGCCC	0.582																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(865-867)gaG>gaT		Williams-Beuren syndrome chromosome region 17							138	126	130					7																	70885996		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70885996G>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.867G>T	7.37:g.70885996G>T	ENSP00000329654:p.Glu289Asp		Somatic				WBSCR17_ENST00000498380.2_3'UTR	p.E289D	NM_022479.1	NP_071924.1	WXS	Illumina GAIIx	Phase_I	Q6IS24	GLTL3_HUMAN			5	1501	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	289					Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.867G>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186075	0.57909	.	.	ENSG00000185274	ENST00000333538	T	0.59083	0.29	5.32	3.53	0.40419	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.51126	0.1656	N	0.25957	0.775	0.53688	D	0.999975	P	0.50819	0.939	P	0.54759	0.76	T	0.40251	-0.9573	10	0.08837	T	0.75	.	10.8571	0.46804	0.1523:0.0:0.8477:0.0	.	289	Q6IS24	GLTL3_HUMAN	D	289	ENSP00000329654:E289D	ENSP00000329654:E289D	E	+	3	2	WBSCR17	70523932	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.528000	0.60580	0.637000	0.30526	0.557000	0.71058	GAG		0.582	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		55	118	1	0	7.34454e-26	1	1.03635e-25	55	118					T	70885996	G	T	70885996	3	4	48	1	0	0	0	0	1	0	0	0	17279	933	33	2	885	2	WBSCR17	7	70885996	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4963	70885996	88252667	1940	6408										
TRIM50	135892	broad.mit.edu	37	chr7	72733015	72733015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtggtgcagctcctggaactCgcggcggatcacccagctga	14	13	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:72733015C>T	ENST00000333149.2	-	4	732	c.532G>A	c.(532-534)Gag>Aag	p.E178K	TRIM50_ENST00000493498.1_5'Flank|TRIM50_ENST00000453152.1_Missense_Mutation_p.E178K	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	178						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						TCCTGGAACTCGCGGCGGATC	0.652																																						ENST00000333149.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						c.(532-534)Gag>Aag		tripartite motif containing 50							75	77	76					7																	72733015		2203	4300	6503	SO:0001583	missense	135892					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	g.chr7:72733015C>T	AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19017	protein-coding gene	gene with protein product		612548	"tripartite motif-containing 50A", "tripartite motif-containing 50"	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.532G>A	7.37:g.72733015C>T	ENSP00000327994:p.Glu178Lys		Somatic				TRIM50_ENST00000453152.1_Missense_Mutation_p.E178K	p.E178K	NM_178125.2	NP_835226.1	WXS	Illumina GAIIx	Phase_I	Q86XT4	TRI50_HUMAN			4	732	-			178					Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	37	c.532G>A	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512782	0.64522	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.66815	-0.23;-0.23	4.36	4.36	0.52297	.	0.000000	0.56097	D	0.000022	T	0.72969	0.3527	L	0.29908	0.895	0.39245	D	0.963936	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.78321	-0.2249	10	0.72032	D	0.01	.	16.1198	0.81342	0.0:1.0:0.0:0.0	.	178;178	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	K	178	ENSP00000327994:E178K;ENSP00000413875:E178K	ENSP00000327994:E178K	E	-	1	0	TRIM50	72370951	1.000000	0.71417	0.926000	0.36857	0.926000	0.56050	4.873000	0.63057	2.253000	0.74438	0.461000	0.40582	GAG		0.652	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		37	102	0	0	0	1	0	37	102					T	72733015	C	T	72733015	3	4	48	1	0	0	0	0	1	0	0	0	16541	893	31	1	947	1	TRIM50	7	72733015	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1847019	72733015	86405648	1941	6409										
FZD9	8326	broad.mit.edu	37	chr7	72849234	72849234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcctgtgaccaggaggcgggCgcgctctacgtgatccagga	16	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:72849234C>T	ENST00000344575.3	+	1	1126	c.897C>T	c.(895-897)ggC>ggT	p.G299G		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	299					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)				AGGAGGCGGGCGCGCTCTACG	0.637																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(895-897)ggC>ggT		frizzled family receptor 9							102	93	96					7																	72849234		2202	4300	6502	SO:0001819	synonymous_variant	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849234C>T	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"GPCR / Class F : Frizzled receptors", "CD molecules"	4047	protein-coding gene	gene with protein product		601766	"frizzled (Drosophila) homolog 9", "frizzled homolog 9 (Drosophila)", "frizzled 9, seven transmembrane spanning receptor", "frizzled family receptor 9"			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.897C>T	7.37:g.72849234C>T			Somatic					p.G299G	NM_003508.2	NP_003499.1	WXS	Illumina GAIIx	Phase_I	O00144	FZD9_HUMAN			1	1126	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	299						Silent	SNP	ENST00000344575.3	37	c.897C>T	CCDS5548.1																																																																																				0.637	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			50	83	0	0	0	1	0	50	83					T	72849234	C	T	72849234	2	4	48	1	0	0	0	0	0	0	0	1	6145	755	27	1		1	FZD9	7	72849234	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	116219	72849234	86289429	1942	6410										
NCF1	653361	broad.mit.edu	37	chr7	74197898	74197898	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtcagatgaaagcaaagcGaggctggatcccagcgtcct	12	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:74197898G>T	ENST00000289473.4	+	7	675	c.605G>T	c.(604-606)cGa>cTa	p.R202L	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	202	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	AAAGCAAAGCGAGGCTGGATC	0.637																																						ENST00000289473.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						c.(604-606)cGa>cTa		neutrophil cytosolic factor 1							59	52	55					7																	74197898		2201	4298	6499	SO:0001583	missense	653361				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity	g.chr7:74197898G>T	M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"NADPH oxidase organizer 2", "chronic granulomatous disease, autosomal 1"	608512	"neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.605G>T	7.37:g.74197898G>T	ENSP00000289473:p.Arg202Leu		Somatic				NCF1_ENST00000443956.3_3'UTR	p.R202L	NM_000265.4	NP_000256.3	WXS	Illumina GAIIx	Phase_I	P14598	NCF1_HUMAN			7	675	+			202			SH3 1.		A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Missense_Mutation	SNP	ENST00000289473.4	37	c.605G>T	CCDS34657.1	.	.	.	.	.	.	.	.	.	.	g	26.3	4.727993	0.89390	.	.	ENSG00000158517	ENST00000289473	T	0.52057	0.68	4.14	4.14	0.48551	Src homology-3 domain (4);	0.198849	0.42172	D	0.000743	T	0.62502	0.2433	L	0.55834	1.745	0.80722	D	1	D	0.69078	0.997	D	0.67382	0.951	T	0.67369	-0.5688	10	0.72032	D	0.01	-17.5762	15.444	0.75213	0.0:0.0:1.0:0.0	.	202	P14598	NCF1_HUMAN	L	202	ENSP00000289473:R202L	ENSP00000289473:R202L	R	+	2	0	NCF1	73835834	1.000000	0.71417	0.735000	0.30896	0.855000	0.48748	7.069000	0.76755	1.886000	0.54624	0.289000	0.19496	CGA		0.637	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265		15	35	1	0	4.14922e-12	1	5.21015e-12	15	35					T	74197898	G	T	74197898	3	4	48	1	0	0	0	0	1	0	0	0	10225	1058	37	2	631	2	NCF1	7	74197898	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1348664	74197898	84940765	1943	6411										
PTPN12	5782	broad.mit.edu	37	chr7	77166889	77166889	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaagtggagatcctgaggaAattcatccagagggtccagg	14	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77166889A>C	ENST00000248594.6	+	1	298	c.26A>C	c.(25-27)aAa>aCa	p.K9T	PTPN12_ENST00000435495.2_5'Flank|PTPN12_ENST00000415482.2_5'Flank	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	9					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						ATCCTGAGGAAATTCATCCAG	0.667																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(25-27)aAa>aCa		protein tyrosine phosphatase, non-receptor type 12							45	40	42					7																	77166889		2203	4300	6503	SO:0001583	missense	0					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77166889A>C		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.26A>C	7.37:g.77166889A>C	ENSP00000248594:p.Lys9Thr		Somatic					p.K9T	NM_002835.3	NP_002826.3	WXS	Illumina GAIIx	Phase_I	Q05209	PTN12_HUMAN			1	298	+			9					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.26A>C	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	a	11.29	1.594694	0.28445	.	.	ENSG00000127947	ENST00000248594	T	0.12039	2.72	2.67	1.53	0.23141	.	0.323706	0.23993	N	0.042548	T	0.10252	0.0251	L	0.39898	1.24	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10823	-1.0613	10	0.62326	D	0.03	.	5.8921	0.18919	0.8619:0.0:0.1381:0.0	.	9	Q05209	PTN12_HUMAN	T	9	ENSP00000248594:K9T	ENSP00000248594:K9T	K	+	2	0	PTPN12	77004825	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.820000	0.48057	0.460000	0.27045	0.370000	0.22315	AAA		0.667	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			8	14	0	0	0	1	0	8	14					C	77166889	A	C	77166889	3	2	48	1	0	0	0	0	1	0	0	0	12794	14	1	4	28	4	PTPN12	7	77166889	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2968991	77166889	81971774	1944	6412										
PTPN12	5782	broad.mit.edu	37	chr7	77230000	77230000	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaatctcgtaggctgtatcAgtttcattatgtgaactggc	11	7	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77230000A>C	ENST00000248594.6	+	8	844	c.572A>C	c.(571-573)cAg>cCg	p.Q191P	PTPN12_ENST00000435495.2_Missense_Mutation_p.Q61P|PTPN12_ENST00000415482.2_Missense_Mutation_p.Q72P	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	191	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AGGCTGTATCAGTTTCATTAT	0.338																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(571-573)cAg>cCg		protein tyrosine phosphatase, non-receptor type 12							110	92	98					7																	77230000		2203	4299	6502	SO:0001583	missense	0					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77230000A>C		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.572A>C	7.37:g.77230000A>C	ENSP00000248594:p.Gln191Pro		Somatic				PTPN12_ENST00000415482.2_Missense_Mutation_p.Q72P|PTPN12_ENST00000435495.2_Missense_Mutation_p.Q61P	p.Q191P	NM_002835.3	NP_002826.3	WXS	Illumina GAIIx	Phase_I	Q05209	PTN12_HUMAN			8	844	+			191			Tyrosine-protein phosphatase.		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.572A>C	CCDS5592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.503622|4.503622	0.85176|0.85176	.|.	.|.	ENSG00000127947|ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495;ENST00000418110|ENST00000522115	T;D;D;T|.	0.85171|.	2.59;-1.95;-1.95;2.36|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Protein-tyrosine phosphatase, receptor/non-receptor type (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88991|0.88991	0.6588|0.6588	H|H	0.98629|0.98629	4.285|4.285	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.93243|0.93243	0.6628|0.6628	10|5	0.87932|.	D|.	0|.	.|.	15.6184|15.6184	0.76787|0.76787	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	191|.	Q05209|.	PTN12_HUMAN|.	P|R	191;72;72;61;72|130	ENSP00000248594:Q191P;ENSP00000392429:Q72P;ENSP00000397991:Q61P;ENSP00000392526:Q72P|.	ENSP00000248594:Q191P|.	Q|S	+|+	2|1	0|0	PTPN12|PTPN12	77067936|77067936	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.281000|9.281000	0.95811|0.95811	2.090000|2.090000	0.63153|0.63153	0.455000|0.455000	0.32223|0.32223	CAG|AGT		0.338	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			3	13	0	0	0	1	0	3	13					C	77230000	A	C	77230000	3	2	48	1	0	0	0	0	1	0	0	0	12794	188	7	4	602	4	PTPN12	7	77230000	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	63111	77230000	81908663	1945	6413										
RSBN1L	222194	broad.mit.edu	37	chr7	77378805	77378805	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaaaggtaaagaagaaaaaGaaaaagaaacacaaagagaa	8	2	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77378805G>T	ENST00000334955.8	+	3	795	c.768G>T	c.(766-768)aaG>aaT	p.K256N	RSBN1L_ENST00000445288.1_5'UTR	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	256	Lys-rich.					nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGAAGAAAAAGAAAAAGAAAC	0.323																																						ENST00000334955.7																			0				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(766-768)aaG>aaT		round spermatid basic protein 1-like							40	37	38					7																	77378805		1811	4067	5878	SO:0001583	missense	222194					nucleus		g.chr7:77378805G>T	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.768G>T	7.37:g.77378805G>T	ENSP00000334040:p.Lys256Asn		Somatic				RSBN1L_ENST00000445288.1_5'UTR	p.K256N	NM_198467.2	NP_940869.2	WXS	Illumina GAIIx	Phase_I	Q6PCB5	RSBNL_HUMAN			3	795	+			256			Lys-rich.		C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	c.768G>T	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451459	0.84209	.	.	ENSG00000187257	ENST00000334955	T	0.08807	3.05	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00105	-1.2056	10	0.72032	D	0.01	-17.2433	20.0036	0.97427	0.0:0.0:1.0:0.0	.	256	Q6PCB5	RSBNL_HUMAN	N	256	ENSP00000334040:K256N	ENSP00000334040:K256N	K	+	3	2	RSBN1L	77216741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.414000	0.97362	2.824000	0.97209	0.655000	0.94253	AAG		0.323	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		11	17	1	0	6.40141e-05	1	6.95424e-05	11	17					T	77378805	G	T	77378805	3	4	48	1	0	0	0	0	1	0	0	0	13712	933	33	2	778	2	RSBN1L	7	77378805	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	148805	77378805	81759858	1946	6414										
PHTF2	57157	broad.mit.edu	37	chr7	77579062	77579062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attggtaatctggtgcatctCgttaacactttttctcctaa	6	9	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77579062C>T	ENST00000248550.7	+	16	2103	c.2027C>T	c.(2026-2028)tCg>tTg	p.S676L	PHTF2_ENST00000422959.2_Missense_Mutation_p.S642L|PHTF2_ENST00000416283.2_Missense_Mutation_p.S642L|PHTF2_ENST00000275575.7_Intron|PHTF2_ENST00000307305.8_Missense_Mutation_p.S638L			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	676					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						TGGTGCATCTCGTTAACACTT	0.353																																						ENST00000416283.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(1924-1926)tCg>tTg		putative homeodomain transcription factor 2							136	123	127					7																	77579062		1849	4085	5934	SO:0001583	missense	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77579062C>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.2027C>T	7.37:g.77579062C>T	ENSP00000248550:p.Ser676Leu		Somatic				PHTF2_ENST00000275575.7_Intron|PHTF2_ENST00000248550.7_Missense_Mutation_p.S676L|PHTF2_ENST00000422959.2_Missense_Mutation_p.S642L|PHTF2_ENST00000307305.8_Missense_Mutation_p.S638L	p.S642L	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	WXS	Illumina GAIIx	Phase_I	Q8N3S3	PHTF2_HUMAN			15	2051	+			676					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37	c.1925C>T		.	.	.	.	.	.	.	.	.	.	C	28.1	4.894250	0.91889	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000416283;ENST00000248550	.	.	.	5.32	5.32	0.75619	.	0.145130	0.49916	D	0.000139	T	0.62380	0.2423	N	0.14661	0.345	0.53688	D	0.999974	D;B;P	0.76494	0.999;0.409;0.835	D;B;B	0.77557	0.99;0.062;0.198	T	0.63229	-0.6684	9	0.33940	T	0.23	-9.0995	19.3637	0.94453	0.0:1.0:0.0:0.0	.	642;676;638	Q8N3S3-2;Q8N3S3;Q8N3S3-3	.;PHTF2_HUMAN;.	L	642;642;638;642;676	.	ENSP00000248550:S676L	S	+	2	0	PHTF2	77416998	1.000000	0.71417	0.958000	0.39756	0.893000	0.52053	5.079000	0.64431	2.648000	0.89879	0.655000	0.94253	TCG		0.353	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		5	7	0	0	0	1	0	5	7					T	77579062	C	T	77579062	3	4	48	1	0	0	0	0	1	0	0	0	11872	893	31	1	2037	1	PHTF2	7	77579062	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	200257	77579062	81559601	1947	6415										
MAGI2	9863	broad.mit.edu	37	chr7	77885413	77885413	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agggcatccctgaatgtcaaGtatttgtttcacccgctgtc	9	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77885413G>T	ENST00000354212.4	-	10	2147	c.1894C>A	c.(1894-1896)Ctt>Att	p.L632I	MAGI2_ENST00000535697.1_Missense_Mutation_p.L469I|MAGI2_ENST00000419488.1_Missense_Mutation_p.L632I|MAGI2_ENST00000536571.1_Missense_Mutation_p.L464I|MAGI2_ENST00000522391.1_Missense_Mutation_p.L632I	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	632	PDZ 3. {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)				TGAATGTCAAGTATTTGTTTC	0.493																																						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.(1894-1896)Ctt>Att		membrane associated guanylate kinase, WW and PDZ domain containing 2							73	62	66					7																	77885413		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77885413G>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1894C>A	7.37:g.77885413G>T	ENSP00000346151:p.Leu632Ile		Somatic				MAGI2_ENST00000535697.1_Missense_Mutation_p.L469I|MAGI2_ENST00000419488.1_Missense_Mutation_p.L632I|MAGI2_ENST00000522391.1_Missense_Mutation_p.L632I|MAGI2_ENST00000536571.1_Missense_Mutation_p.L464I	p.L632I	NM_012301.3	NP_036433.2	WXS	Illumina GAIIx	Phase_I	Q86UL8	MAGI2_HUMAN			10	2147	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	632			PDZ 3.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1894C>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008900	0.75046	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.74	5.74	0.90152	PDZ/DHR/GLGF (4);	0.000000	0.32488	U	0.006023	T	0.51568	0.1682	L	0.61387	1.9	0.58432	D	0.999998	D;B;D;D;D;D	0.89917	1.0;0.337;0.999;0.999;1.0;0.999	D;B;D;D;D;D	0.91635	0.999;0.439;0.998;0.998;0.999;0.994	T	0.50857	-0.8778	10	0.66056	D	0.02	.	12.2552	0.54619	0.0769:0.0:0.923:0.0	.	469;464;632;632;632;632	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	I	632;632;632;632;464;469	ENSP00000405766:L632I;ENSP00000346151:L632I;ENSP00000428389:L632I;ENSP00000441584:L464I;ENSP00000441603:L469I	ENSP00000346151:L632I	L	-	1	0	MAGI2	77723349	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.804000	0.55568	2.700000	0.92200	0.561000	0.74099	CTT		0.493	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		11	15	1	0	0.000673444	1	0.000709932	11	15					T	77885413	G	T	77885413	3	4	48	1	0	0	0	0	1	0	0	0	9200	1029	36	5	2525	5	MAGI2	7	77885413	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	306351	77885413	81253250	1948	6416										
CACNA2D1	781	broad.mit.edu	37	chr7	81662189	81662189	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgtgaatagcataataatcTtattgcagtttgctctggaa	8	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:81662189T>G	ENST00000356253.5	-	12	1322	c.1067A>C	c.(1066-1068)aAg>aCg	p.K356T	CACNA2D1_ENST00000464354.1_5'UTR|MIR1255B1_ENST00000439234.1_RNA|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.K356T			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	356	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)	CATAATAATCTTATTGCAGTT	0.279																																						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.(1066-1068)aAg>aCg		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						67	69	68					7																	81662189		2203	4296	6499	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81662189T>G	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.1067A>C	7.37:g.81662189T>G	ENSP00000348589:p.Lys356Thr		Somatic				CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.K356T	p.K356T	NM_000722.2	NP_000713.2	WXS	Illumina GAIIx	Phase_I	P54289	CA2D1_HUMAN			12	1405	-			356			VWFA.		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.1067A>C		.	.	.	.	.	.	.	.	.	.	T	26.5	4.741794	0.89573	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	D;D	0.86956	-2.19;-2.19	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.92044	0.7479	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.92847	0.6294	10	0.87932	D	0	-22.3631	15.8791	0.79189	0.0:0.0:0.0:1.0	.	356	P54289-2	.	T	356	ENSP00000349320:K356T;ENSP00000348589:K356T	ENSP00000284088:K356T	K	-	2	0	CACNA2D1	81500125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.720000	0.84759	2.160000	0.67779	0.477000	0.44152	AAG		0.279	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				4	30	0	0	0	1	0	4	30					G	81662189	T	G	81662189	3	3	48	1	0	0	0	0	1	0	0	0	2550	1609	56	4	2320	4	CACNA2D1	7	81662189	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	3776776	81662189	77476474	1949	6417										
CACNA2D1	781	broad.mit.edu	37	chr7	81978960	81978960	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcatcttatccacccatgatTtgatactgcagaaatcagaa	6	10	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:81978960T>G	ENST00000356253.5	-	2	356	c.101A>C	c.(100-102)aAa>aCa	p.K34T	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.K34T|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.K34T			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	34					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)	CACCCATGATTTGATACTGCA	0.363																																						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.(100-102)aAa>aCa		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						171	155	161					7																	81978960		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81978960T>G	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.101A>C	7.37:g.81978960T>G	ENSP00000348589:p.Lys34Thr		Somatic				CACNA2D1_ENST00000423588.1_Missense_Mutation_p.K34T|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.K34T	p.K34T	NM_000722.2	NP_000713.2	WXS	Illumina GAIIx	Phase_I	P54289	CA2D1_HUMAN			2	439	-			34					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.101A>C		.	.	.	.	.	.	.	.	.	.	T	21.9	4.213707	0.79352	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.24350	3.16;3.15;1.86	6.01	6.01	0.97437	.	0.067156	0.56097	D	0.000036	T	0.41650	0.1168	L	0.59436	1.845	0.80722	D	1	P	0.49961	0.93	P	0.53861	0.736	T	0.23797	-1.0178	10	0.72032	D	0.01	-21.1452	15.5596	0.76234	0.0:0.0:0.0:1.0	.	34	P54289-2	.	T	34	ENSP00000349320:K34T;ENSP00000348589:K34T;ENSP00000405395:K34T	ENSP00000284088:K34T	K	-	2	0	CACNA2D1	81816896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.466000	0.66731	2.317000	0.78254	0.524000	0.50904	AAA		0.363	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				8	47	0	0	0	1	0	8	47					G	81978960	T	G	81978960	3	3	48	1	0	0	0	0	1	0	0	0	2550	1841	64	4	3326	4	CACNA2D1	7	81978960	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	316771	81978960	77159703	1950	6418										
PCLO	27445	broad.mit.edu	37	chr7	82538315	82538315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaccaatctgtttcctcacGacgcagatgataggctttgg	9	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:82538315G>A	ENST00000333891.9	-	8	13652	c.13315C>T	c.(13315-13317)Cgt>Tgt	p.R4439C	PCLO_ENST00000423517.2_Missense_Mutation_p.R4439C	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						GTTTCCTCACGACGCAGATGA	0.458																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(13315-13317)Cgt>Tgt		piccolo presynaptic cytomatrix protein							90	80	83					7																	82538315		1937	4146	6083	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.chr7:82538315G>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.13315C>T	7.37:g.82538315G>A	ENSP00000334319:p.Arg4439Cys		Somatic				PCLO_ENST00000333891.8_Missense_Mutation_p.R4439C	p.R4439C	NM_014510.2	NP_055325.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			8	13652	-			4370			PDZ.			Missense_Mutation	SNP	ENST00000333891.9	37	c.13315C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538635	0.45176	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.19105	2.18;2.17	5.39	5.39	0.77823	.	.	.	.	.	T	0.46870	0.1415	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.40515	-0.9559	9	0.87932	D	0	.	19.5274	0.95212	0.0:0.0:1.0:0.0	.	4439;4439	Q9Y6V0-5;Q9Y6V0-6	.;.	C	4439	ENSP00000334319:R4439C;ENSP00000388393:R4439C	ENSP00000334319:R4439C	R	-	1	0	PCLO	82376251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.217000	0.72218	2.699000	0.92147	0.591000	0.81541	CGT		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		13	23	0	0	0	1	0	13	23					A	82538315	G	A	82538315	3	1	48	1	0	0	0	0	1	0	0	0	11592	1058	37	1	2202	1	PCLO	7	82538315	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	559355	82538315	76600348	1951	6419										
PCLO	27445	broad.mit.edu	37	chr7	82544538	82544538	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgccaagagaagatcccataAatttttgttggtctgtaata	8	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:82544538A>C	ENST00000333891.9	-	7	13101	c.12764T>G	c.(12763-12765)tTt>tGt	p.F4255C	PCLO_ENST00000423517.2_Missense_Mutation_p.F4255C|PCLO_ENST00000437081.1_Missense_Mutation_p.F975C	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						AGATCCCATAAATTTTTGTTG	0.458																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(12763-12765)tTt>tGt		piccolo presynaptic cytomatrix protein							27	27	27					7																	82544538		1854	4106	5960	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.chr7:82544538A>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.12764T>G	7.37:g.82544538A>C	ENSP00000334319:p.Phe4255Cys		Somatic				PCLO_ENST00000333891.8_Missense_Mutation_p.F4255C|PCLO_ENST00000437081.1_Missense_Mutation_p.F975C	p.F4255C	NM_014510.2	NP_055325.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			7	13101	-			4186			Ser-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.12764T>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.162573	0.38217	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.19105	2.17;2.17	5.92	5.92	0.95590	.	.	.	.	.	T	0.37679	0.1012	L	0.53249	1.67	0.38335	D	0.943905	D;D;D	0.76494	0.988;0.999;0.999	P;D;D	0.63192	0.533;0.912;0.912	T	0.35126	-0.9801	9	0.87932	D	0	.	11.2086	0.48784	0.8308:0.0:0.0:0.1692	.	4186;4255;4255	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	C	4255;4255;975	ENSP00000334319:F4255C;ENSP00000388393:F4255C	ENSP00000334319:F4255C	F	-	2	0	PCLO	82382474	1.000000	0.71417	0.989000	0.46669	0.965000	0.64279	3.577000	0.53885	2.266000	0.75297	0.455000	0.32223	TTT		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		8	19	0	0	0	1	0	8	19					C	82544538	A	C	82544538	3	2	48	1	0	0	0	0	1	0	0	0	11592	14	1	4	2757	4	PCLO	7	82544538	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	6223	82544538	76594125	1952	6420										
SEMA3E	9723	broad.mit.edu	37	chr7	82996969	82996969	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacggagcttcttttcctgaGggttggcatacttccacttg	10	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:82996969G>T	ENST00000307792.3	-	17	2728	c.2261C>A	c.(2260-2262)cCt>cAt	p.P754H	SEMA3E_ENST00000427262.1_Missense_Mutation_p.P694H	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	754	Arg/Lys-rich (basic).				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)				CTTTTCCTGAGGGTTGGCATA	0.473																																						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.(2260-2262)cCt>cAt		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							175	174	174					7																	82996969		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:82996969G>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.2261C>A	7.37:g.82996969G>T	ENSP00000303212:p.Pro754His		Somatic				SEMA3E_ENST00000427262.1_Missense_Mutation_p.P694H	p.P754H	NM_012431.2	NP_036563.1	WXS	Illumina GAIIx	Phase_I	O15041	SEM3E_HUMAN			17	2728	-		Medulloblastoma(109;0.109)	754			Arg/Lys-rich (basic).		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.2261C>A	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861111	0.51482	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.29917	1.61;1.55	5.64	5.64	0.86602	.	0.000000	0.43579	U	0.000543	T	0.37679	0.1012	M	0.72118	2.19	0.42436	D	0.992698	P	0.38767	0.646	B	0.35899	0.213	T	0.30880	-0.9963	10	0.46703	T	0.11	.	19.7061	0.96072	0.0:0.0:1.0:0.0	.	754	O15041	SEM3E_HUMAN	H	754;694;754	ENSP00000303212:P754H;ENSP00000405052:P694H	ENSP00000303212:P754H	P	-	2	0	SEMA3E	82834905	1.000000	0.71417	0.978000	0.43139	0.810000	0.45777	3.937000	0.56575	2.660000	0.90430	0.585000	0.79938	CCT		0.473	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		40	109	1	0	2.40579e-17	1	3.22781e-17	40	109					T	82996969	G	T	82996969	3	4	48	1	0	0	0	0	1	0	0	0	14043	1000	35	5	70	5	SEMA3E	7	82996969	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	452431	82996969	76141694	1953	6421										
SEMA3E	9723	broad.mit.edu	37	chr7	83014659	83014659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtacaaaccagataactttcGcttgtaaagatcgtggggta	10	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:83014659G>A	ENST00000307792.3	-	16	2293	c.1826C>T	c.(1825-1827)gCg>gTg	p.A609V	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A549V	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	609	Ig-like C2-type.				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)				GATAACTTTCGCTTGTAAAGA	0.398																																						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.(1825-1827)gCg>gTg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							196	180	185					7																	83014659		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83014659G>A	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.1826C>T	7.37:g.83014659G>A	ENSP00000303212:p.Ala609Val		Somatic				SEMA3E_ENST00000427262.1_Missense_Mutation_p.A549V	p.A609V	NM_012431.2	NP_036563.1	WXS	Illumina GAIIx	Phase_I	O15041	SEM3E_HUMAN			16	2293	-		Medulloblastoma(109;0.109)	609			Ig-like C2-type.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.1826C>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430525	0.96150	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.19394	2.15;2.15	5.54	5.54	0.83059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.49440	0.1557	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.68039	0.955	T	0.49854	-0.8895	10	0.59425	D	0.04	.	19.4854	0.95027	0.0:0.0:1.0:0.0	.	609	O15041	SEM3E_HUMAN	V	609;549;609	ENSP00000303212:A609V;ENSP00000405052:A549V	ENSP00000303212:A609V	A	-	2	0	SEMA3E	82852595	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.255000	0.95524	2.597000	0.87782	0.650000	0.86243	GCG		0.398	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		39	59	0	0	0	1	0	39	59					A	83014659	G	A	83014659	3	1	48	1	0	0	0	0	1	0	0	0	14043	1087	38	1	509	1	SEMA3E	7	83014659	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	17690	83014659	76124004	1954	6422										
SEMA3A	10371	broad.mit.edu	37	chr7	83590853	83590853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttcacagaactcatccattGtgttgagattggggtggttg	13	6	2	2	rs138952094		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:83590853G>A	ENST00000265362.4	-	17	2464	c.2150C>T	c.(2149-2151)aCa>aTa	p.T717I	SEMA3A_ENST00000436949.1_Missense_Mutation_p.T717I	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	717					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						CTCATCCATTGTGTTGAGATT	0.468													G|||	1	0.000199681	8e-04	0	5008	,	,		19001	0		0	False		,,,				2504	0					ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2149-2151)aCa>aTa		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		G	ILE/THR	0,4406		0,0,2203	192	167	175		2150	5.8	1	7	dbSNP_134	175	3,8597		0,3,4297	yes	missense	SEMA3A	NM_006080.2	89	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	717/772	83590853	3,13003	2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83590853G>A	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.2150C>T	7.37:g.83590853G>A	ENSP00000265362:p.Thr717Ile		Somatic				SEMA3A_ENST00000436949.1_Missense_Mutation_p.T717I	p.T717I	NM_006080.2	NP_006071.1	WXS	Illumina GAIIx	Phase_I	Q14563	SEM3A_HUMAN			17	2464	-			717						Missense_Mutation	SNP	ENST00000265362.4	37	c.2150C>T	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954890	0.53293	0.0	3.49E-4	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.28255	1.62;1.62	5.78	5.78	0.91487	.	0.042534	0.85682	D	0.000000	T	0.40979	0.1139	L	0.36672	1.1	0.54753	D	0.999987	P	0.52692	0.955	P	0.53450	0.726	T	0.01834	-1.1264	10	0.35671	T	0.21	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	717	Q14563	SEM3A_HUMAN	I	717	ENSP00000265362:T717I;ENSP00000415260:T717I	ENSP00000265362:T717I	T	-	2	0	SEMA3A	83428789	1.000000	0.71417	0.973000	0.42090	0.830000	0.47004	4.982000	0.63825	2.894000	0.99253	0.655000	0.94253	ACA		0.468	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		37	55	0	0	0	1	0	37	55					A	83590853	G	A	83590853	3	1	48	1	0	0	0	0	1	0	0	0	14039	1377	48	3	169	3	SEMA3A	7	83590853	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	576194	83590853	75547810	1955	6423										
SEMA3A	10371	broad.mit.edu	37	chr7	83823879	83823879	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatactccccagaaaagacaGacaatcctagttaaccagcc	5	13	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:83823879G>A	ENST00000265362.4	-	1	338	c.24C>T	c.(22-24)gtC>gtT	p.V8V	SEMA3A_ENST00000436949.1_Silent_p.V8V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	8					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						AGAAAAGACAGACAATCCTAG	0.428																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(22-24)gtC>gtT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							173	169	170					7																	83823879		2203	4300	6503	SO:0001819	synonymous_variant	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83823879G>A	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.24C>T	7.37:g.83823879G>A			Somatic				SEMA3A_ENST00000436949.1_Silent_p.V8V	p.V8V	NM_006080.2	NP_006071.1	WXS	Illumina GAIIx	Phase_I	Q14563	SEM3A_HUMAN			1	338	-			8						Silent	SNP	ENST00000265362.4	37	c.24C>T	CCDS5599.1																																																																																				0.428	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		41	69	0	0	0	1	0	41	69					A	83823879	G	A	83823879	2	1	48	1	0	0	0	0	0	0	0	1	14039	929	33	3		3	SEMA3A	7	83823879	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	233026	83823879	75314784	1956	6424										
ABCB4	5244	broad.mit.edu	37	chr7	87035618	87035618	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acttacgtggggtaacgtctCgatgaaaggatgtatgttgg	14	5	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87035618C>T	ENST00000265723.4	-	26	3604	c.3493G>A	c.(3493-3495)Gag>Aag	p.E1165K	ABCB4_ENST00000453593.1_Missense_Mutation_p.E1111K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E1111K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E1158K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E1158K	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	1165	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GGTAACGTCTCGATGAAAGGA	0.423																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(3493-3495)Gag>Aag		ATP-binding cassette, sub-family B (MDR/TAP), member 4							145	137	140					7																	87035618		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87035618C>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.3493G>A	7.37:g.87035618C>T	ENSP00000265723:p.Glu1165Lys		Somatic				ABCB4_ENST00000453593.1_Missense_Mutation_p.E1111K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E1111K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E1158K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E1158K	p.E1165K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	WXS	Illumina GAIIx	Phase_I	P21439	MDR3_HUMAN			26	3604	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1165			ABC transporter 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.3493G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649612	0.29336	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28	5.48	4.61	0.57282	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.102061	0.64402	D	0.000003	D	0.87071	0.6086	N	0.11789	0.175	0.45580	D	0.998521	B;B;B	0.21225	0.053;0.029;0.037	B;B;B	0.29598	0.029;0.063;0.104	T	0.82380	-0.0486	10	0.28530	T	0.3	-14.5781	14.5955	0.68403	0.0:0.9298:0.0:0.0702	.	1111;1158;1165	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	K	1158;1111;1165;1111;1158	ENSP00000352135:E1158K;ENSP00000351172:E1111K;ENSP00000265723:E1165K;ENSP00000392983:E1111K;ENSP00000437465:E1158K	ENSP00000265723:E1165K	E	-	1	0	ABCB4	86873554	0.982000	0.34865	0.997000	0.53966	0.234000	0.25298	2.912000	0.48782	1.473000	0.48159	0.557000	0.71058	GAG		0.423	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		7	66	0	0	0	1	0	7	66					T	87035618	C	T	87035618	3	4	48	1	0	0	0	0	1	0	0	0	43	893	31	1	379	1	ABCB4	7	87035618	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3211739	87035618	72103045	1957	6425										
ABCB4	5244	broad.mit.edu	37	chr7	87043015	87043015	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacaactgtcctaatattttCtattgcctctgttgcaatct	4	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87043015C>T	ENST00000265723.4	-	22	2812	c.2701G>A	c.(2701-2703)Gaa>Aaa	p.E901K	ABCB4_ENST00000453593.1_Missense_Mutation_p.E901K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E901K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E901K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E901K	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	901	ABC transmembrane type-1 2. {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.E901K(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)	CTAATATTTTCTATTGCCTCT	0.343																																						ENST00000265723.4																			1	Substitution - Missense(1)	p.E901K(1)	endometrium(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.(2701-2703)Gaa>Aaa		ATP-binding cassette, sub-family B (MDR/TAP), member 4							116	123	121					7																	87043015		2203	4298	6501	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87043015C>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.2701G>A	7.37:g.87043015C>T	ENSP00000265723:p.Glu901Lys		Somatic				ABCB4_ENST00000453593.1_Missense_Mutation_p.E901K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E901K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E901K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E901K	p.E901K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	WXS	Illumina GAIIx	Phase_I	P21439	MDR3_HUMAN			22	2812	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		901			ABC transmembrane type-1 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.2701G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605914	0.87157	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	5.56	5.56	0.83823	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.160109	0.53938	D	0.000045	D	0.93979	0.8072	M	0.78916	2.43	0.80722	D	1	P;P;P	0.49559	0.465;0.908;0.925	B;P;P	0.59424	0.35;0.777;0.857	D	0.93553	0.6888	10	0.54805	T	0.06	-23.3456	19.9019	0.96988	0.0:1.0:0.0:0.0	.	901;901;901	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	K	901	ENSP00000352135:E901K;ENSP00000351172:E901K;ENSP00000265723:E901K;ENSP00000392983:E901K;ENSP00000437465:E901K	ENSP00000265723:E901K	E	-	1	0	ABCB4	86880951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.946000	0.70234	2.781000	0.95711	0.650000	0.86243	GAA		0.343	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		20	39	0	0	0	1	0	20	39					T	87043015	C	T	87043015	3	4	48	1	0	0	0	0	1	0	0	0	43	922	32	3	1187	3	ABCB4	7	87043015	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	7397	87043015	72095648	1958	6426										
ABCB1	5243	broad.mit.edu	37	chr7	87168615	87168615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggatcggaaaaccatgtatCggagccgcttggtgaggatc	14	8	0	1	rs199779996		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87168615C>T	ENST00000265724.3	-	20	2783	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q	ABCB1_ENST00000543898.1_Missense_Mutation_p.R725Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	789	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AACCATGTATCGGAGCCGCTT	0.522																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(2365-2367)cGa>cAa		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						127	105	112					7																	87168615		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87168615C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2366G>A	7.37:g.87168615C>T	ENSP00000265724:p.Arg789Gln		Somatic				ABCB1_ENST00000543898.1_Missense_Mutation_p.R725Q	p.R789Q	NM_000927.4	NP_000918.2	WXS	Illumina GAIIx	Phase_I	P08183	MDR1_HUMAN			20	2783	-	Esophageal squamous(14;0.00164)		789			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2366G>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	37	6.106767	0.97291	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.95069	-3.6;-3.6	6.03	6.03	0.97812	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	0.98576	0.9524	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.81914	0.995;0.829	D	0.98936	1.0789	10	0.87932	D	0	-12.4978	20.5666	0.99351	0.0:1.0:0.0:0.0	.	725;789	B5AK60;P08183	.;MDR1_HUMAN	Q	570;789;725	ENSP00000265724:R789Q;ENSP00000444095:R725Q	ENSP00000265724:R789Q	R	-	2	0	ABCB1	87006551	1.000000	0.71417	0.956000	0.39512	0.985000	0.73830	7.813000	0.86123	2.854000	0.98071	0.655000	0.94253	CGA		0.522	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		14	26	0	0	0	1	0	14	26					T	87168615	C	T	87168615	3	4	48	1	0	0	0	0	1	0	0	0	40	884	31	1	1516	1	ABCB1	7	87168615	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	125600	87168615	71970048	1959	6427										
ABCB1	5243	broad.mit.edu	37	chr7	87196193	87196193	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaaaaaactgttttctaatTttgtgtatttgtcttccagc	6	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87196193T>G	ENST00000265724.3	-	7	855	c.438A>C	c.(436-438)aaA>aaC	p.K146N	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	146	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GTTTTCTAATTTTGTGTATTT	0.433																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(436-438)aaA>aaC		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						124	126	126					7																	87196193		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87196193T>G	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.438A>C	7.37:g.87196193T>G	ENSP00000265724:p.Lys146Asn		Somatic				ABCB1_ENST00000543898.1_Intron	p.K146N	NM_000927.4	NP_000918.2	WXS	Illumina GAIIx	Phase_I	P08183	MDR1_HUMAN			7	855	-	Esophageal squamous(14;0.00164)		146			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.438A>C	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595785	0.46318	.	.	ENSG00000085563	ENST00000265724	D	0.91011	-2.77	5.91	3.55	0.40652	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.199566	0.49305	D	0.000159	D	0.86493	0.5946	L	0.39633	1.23	0.80722	D	1	P	0.35551	0.509	B	0.41332	0.354	T	0.82898	-0.0229	10	0.87932	D	0	-15.5561	6.4162	0.21717	0.0:0.1409:0.1325:0.7266	.	146	P08183	MDR1_HUMAN	N	146	ENSP00000265724:K146N	ENSP00000265724:K146N	K	-	3	2	ABCB1	87034129	0.997000	0.39634	0.910000	0.35882	0.847000	0.48162	0.820000	0.27323	0.506000	0.28125	-0.290000	0.09829	AAA		0.433	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		18	40	0	0	0	1	0	18	40					G	87196193	T	G	87196193	3	3	48	1	0	0	0	0	1	0	0	0	40	1838	64	4	3496	4	ABCB1	7	87196193	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	27578	87196193	71942470	1960	6428										
STEAP4	79689	broad.mit.edu	37	chr7	87913198	87913198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgttaaatgcttttaccacGtgggctcctggcaccaaatg	10	10	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87913198G>A	ENST00000380079.4	-	2	488	c.387C>T	c.(385-387)caC>caT	p.H129H	STEAP4_ENST00000301959.5_Silent_p.H129H|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Silent_p.H129H|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	129					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTTTTACCACGTGGGCTCCTG	0.423																																						ENST00000380079.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15						c.(385-387)caC>caT		STEAP family member 4							133	121	125					7																	87913198		1889	4125	6014	SO:0001819	synonymous_variant	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87913198G>A	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"tumor necrosis factor, alpha-induced protein 9"	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.387C>T	7.37:g.87913198G>A			Somatic				AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Silent_p.H129H|STEAP4_ENST00000414498.1_Silent_p.H129H|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA	p.H129H	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	WXS	Illumina GAIIx	Phase_I	Q687X5	STEA4_HUMAN			2	488	-	Esophageal squamous(14;0.00802)		129					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Silent	SNP	ENST00000380079.4	37	c.387C>T	CCDS43611.1																																																																																				0.423	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		25	74	0	0	0	1	0	25	74					A	87913198	G	A	87913198	2	1	48	1	0	0	0	0	0	0	0	1	15295	1136	40	1		1	STEAP4	7	87913198	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	717005	87913198	71225465	1961	6429										
ZNF804B	219578	broad.mit.edu	37	chr7	88389380	88389380	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcaggggacccctgtgcaaGaacggatctccctctccggt	11	14	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88389380G>T	ENST00000333190.4	+	1	699	c.90G>T	c.(88-90)aaG>aaT	p.K30N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	30							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)			CCCTGTGCAAGAACGGATCTC	0.502										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.(88-90)aaG>aaT		zinc finger protein 804B							114	104	108					7																	88389380		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88389380G>T	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.90G>T	7.37:g.88389380G>T	ENSP00000329638:p.Lys30Asn	HNSCC(36;0.09)	Somatic					p.K30N	NM_181646.2	NP_857597.1	WXS	Illumina GAIIx	Phase_I	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		1	699	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		30					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.90G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747308	0.69533	.	.	ENSG00000182348	ENST00000333190	T	0.06933	3.24	5.08	4.2	0.49525	.	0.177242	0.27294	N	0.020034	T	0.13157	0.0319	N	0.24115	0.695	0.38312	D	0.94328	D	0.59767	0.986	P	0.62435	0.902	T	0.08472	-1.0720	10	0.56958	D	0.05	-10.9491	9.8194	0.40874	0.1557:0.0:0.8443:0.0	.	30	A4D1E1	Z804B_HUMAN	N	30	ENSP00000329638:K30N	ENSP00000329638:K30N	K	+	3	2	ZNF804B	88227316	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.348000	0.59379	1.375000	0.46248	-0.225000	0.12378	AAG		0.502	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		32	80	1	0	9.65021e-13	1	1.22324e-12	32	80					T	88389380	G	T	88389380	3	4	48	1	0	0	0	0	1	0	0	0	18186	933	33	2	92	2	ZNF804B	7	88389380	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	476182	88389380	70749283	1962	6430										
MGC26647	219557	broad.mit.edu	37	chr7	88423783	88423783	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgactgtgtcacatcgtcGagatacataactggaacttt	9	8	1	2	rs377269794		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88423783G>A	ENST00000297203.2	-	2	659	c.474C>T	c.(472-474)ctC>ctT	p.L158L	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	158										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCACATCGTCGAGATACATAA	0.363																																						ENST00000297203.2																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(472-474)ctC>ctT		chromosome 7 open reading frame 62		G	,	0,4406		0,0,2203	135	119	124		474,	-12.1	0	7		124	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,intron	C7orf62,ZNF804B	NM_152706.2,NM_181646.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	158/254,	88423783	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	219557							g.chr7:88423783G>A	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.474C>T	7.37:g.88423783G>A			Somatic				ZNF804B_ENST00000333190.4_Intron	p.L158L	NM_152706.3	NP_689919.1	WXS	Illumina GAIIx	Phase_I	Q8TBZ9	CG062_HUMAN			2	659	-			158						Silent	SNP	ENST00000297203.2	37	c.474C>T	CCDS34678.1																																																																																				0.363	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		24	61	0	0	0	1	0	24	61					A	88423783	G	A	88423783	2	1	48	1	0	0	0	0	0	0	0	1	9559	1045	37	1		1	MGC26647	7	88423783	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	34403	88423783	70714880	1963	6431										
ZNF804B	219578	broad.mit.edu	37	chr7	88962766	88962766	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttccccattaagaatggcaGaaaggtatcatgcatgaaga	9	7	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88962766G>T	ENST00000333190.4	+	4	1079	c.470G>T	c.(469-471)aGa>aTa	p.R157I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	157							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)			AAGAATGGCAGAAAGGTATCA	0.438										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(469-471)aGa>aTa		zinc finger protein 804B							65	64	64					7																	88962766		2203	4299	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88962766G>T	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.470G>T	7.37:g.88962766G>T	ENSP00000329638:p.Arg157Ile	HNSCC(36;0.09)	Somatic					p.R157I	NM_181646.2	NP_857597.1	WXS	Illumina GAIIx	Phase_I	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1079	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		157					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.470G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914236	0.33815	.	.	ENSG00000182348	ENST00000333190	T	0.05447	3.44	5.4	3.56	0.40772	.	0.181863	0.39020	N	0.001500	T	0.10078	0.0247	N	0.25647	0.755	0.49915	D	0.999839	D	0.63880	0.993	P	0.59288	0.855	T	0.08953	-1.0697	10	0.56958	D	0.05	-16.0153	8.7359	0.34528	0.2654:0.0:0.7346:0.0	.	157	A4D1E1	Z804B_HUMAN	I	157	ENSP00000329638:R157I	ENSP00000329638:R157I	R	+	2	0	ZNF804B	88800702	0.989000	0.36119	0.913000	0.36048	0.596000	0.36781	1.226000	0.32563	1.519000	0.48950	0.650000	0.86243	AGA		0.438	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		20	29	1	0	4.96729e-08	1	5.79844e-08	20	29					T	88962766	G	T	88962766	3	4	48	1	0	0	0	0	1	0	0	0	18186	942	33	2	484	2	ZNF804B	7	88962766	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	538983	88962766	70175897	1964	6432										
ZNF804B	219578	broad.mit.edu	37	chr7	88964251	88964251	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttggaatttgaagatgaaaGacaattcaactgcaagtcca	8	6	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88964251G>T	ENST00000333190.4	+	4	2564	c.1955G>T	c.(1954-1956)aGa>aTa	p.R652I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	652							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)			GAAGATGAAAGACAATTCAAC	0.398										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.(1954-1956)aGa>aTa		zinc finger protein 804B							100	95	97					7																	88964251		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88964251G>T	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.1955G>T	7.37:g.88964251G>T	ENSP00000329638:p.Arg652Ile	HNSCC(36;0.09)	Somatic					p.R652I	NM_181646.2	NP_857597.1	WXS	Illumina GAIIx	Phase_I	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2564	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		652					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1955G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	2.289	-0.363006	0.05103	.	.	ENSG00000182348	ENST00000333190	T	0.04917	3.53	5.48	-2.72	0.05968	.	0.955155	0.08781	N	0.894667	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B	0.23490	0.086	B	0.16722	0.016	T	0.45264	-0.9273	10	0.37606	T	0.19	-0.8888	7.5337	0.27697	0.3398:0.4042:0.256:0.0	.	652	A4D1E1	Z804B_HUMAN	I	652	ENSP00000329638:R652I	ENSP00000329638:R652I	R	+	2	0	ZNF804B	88802187	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.281000	0.18810	-0.317000	0.08677	-0.903000	0.02851	AGA		0.398	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		24	38	1	0	2.44723e-14	1	3.18537e-14	24	38					T	88964251	G	T	88964251	3	4	48	1	0	0	0	0	1	0	0	0	18186	942	33	2	1969	2	ZNF804B	7	88964251	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1485	88964251	70174412	1965	6433										
ZNF804B	219578	broad.mit.edu	37	chr7	88964999	88964999	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatatcagctgccttctaaaGaactgttccagtggcccttc	7	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88964999G>T	ENST00000333190.4	+	4	3312	c.2703G>T	c.(2701-2703)aaG>aaT	p.K901N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	901							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)			GCCTTCTAAAGAACTGTTCCA	0.463										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.(2701-2703)aaG>aaT		zinc finger protein 804B							75	79	77					7																	88964999		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88964999G>T	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.2703G>T	7.37:g.88964999G>T	ENSP00000329638:p.Lys901Asn	HNSCC(36;0.09)	Somatic					p.K901N	NM_181646.2	NP_857597.1	WXS	Illumina GAIIx	Phase_I	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3312	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		901					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2703G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	8.704	0.910503	0.17833	.	.	ENSG00000182348	ENST00000333190	T	0.05447	3.44	5.34	-3.53	0.04667	.	0.231983	0.38778	N	0.001564	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B	0.26195	0.144	B	0.15870	0.014	T	0.38222	-0.9671	10	0.66056	D	0.02	-6.6079	9.5293	0.39185	0.7315:0.1224:0.1461:0.0	.	901	A4D1E1	Z804B_HUMAN	N	901	ENSP00000329638:K901N	ENSP00000329638:K901N	K	+	3	2	ZNF804B	88802935	0.000000	0.05858	0.002000	0.10522	0.197000	0.23852	0.064000	0.14437	-0.416000	0.07473	-0.140000	0.14226	AAG		0.463	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		36	104	1	0	3.62531e-18	1	4.89791e-18	36	104					T	88964999	G	T	88964999	3	4	48	1	0	0	0	0	1	0	0	0	18186	933	33	2	2717	2	ZNF804B	7	88964999	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	748	88964999	70173664	1966	6434										
C7orf63	79846	broad.mit.edu	37	chr7	89929205	89929205	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accaaaaaaaattctgtaatCtaatacttggaataatggtt	5	5	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:89929205C>A	ENST00000389297.4	+	17	2133	c.1882C>A	c.(1882-1884)Cta>Ata	p.L628I	C7orf63_ENST00000497910.1_Missense_Mutation_p.L610I|C7orf63_ENST00000316089.8_Missense_Mutation_p.L628I	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		628										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ATTCTGTAATCTAATACTTGG	0.318																																						ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(1882-1884)Cta>Ata		chromosome 7 open reading frame 63							39	37	38					7																	89929205		1792	4074	5866	SO:0001583	missense	79846						binding	g.chr7:89929205C>A																												ENST00000389297.4:c.1882C>A	7.37:g.89929205C>A	ENSP00000373948:p.Leu628Ile		Somatic				C7orf63_ENST00000316089.8_Missense_Mutation_p.L628I|C7orf63_ENST00000497910.1_Missense_Mutation_p.L610I	p.L628I	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	WXS	Illumina GAIIx	Phase_I	A5D8W1	CG063_HUMAN			17	2133	+			628					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.1882C>A	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862514	0.51482	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.8	4.01	0.46588	Armadillo-type fold (1);	0.422292	0.23405	N	0.048531	T	0.42630	0.1211	L	0.52126	1.63	0.29358	N	0.864874	P;P;P	0.39759	0.652;0.687;0.687	B;B;B	0.43728	0.429;0.301;0.111	T	0.35276	-0.9795	10	0.30854	T	0.27	-8.8905	6.231	0.20734	0.1399:0.6468:0.0:0.2133	.	610;628;628	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	I	628;628;610;211	ENSP00000373948:L628I;ENSP00000321753:L628I;ENSP00000419549:L610I;ENSP00000391571:L211I	ENSP00000321753:L628I	L	+	1	2	C7orf63	89767141	0.990000	0.36364	1.000000	0.80357	0.998000	0.95712	0.187000	0.16998	0.801000	0.34066	0.650000	0.86243	CTA		0.318	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			7	8	1	0	2.7689e-08	1	3.25926e-08	7	8					A	89929205	C	A	89929205	3	1	48	1	0	0	0	0	1	0	0	0	2411	912	32	2	1948	2	C7orf63	7	89929205	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	964206	89929205	69209458	1967	6435										
C7orf63	79846	broad.mit.edu	37	chr7	89934069	89934069	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttattttagattttgaaaatTtacctggcctatctgctgaa	6	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:89934069T>G	ENST00000389297.4	+	19	2451	c.2200T>G	c.(2200-2202)Tta>Gta	p.L734V	C7orf63_ENST00000497910.1_Missense_Mutation_p.L716V|C7orf63_ENST00000316089.8_Missense_Mutation_p.L688V	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		734										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTTTGAAAATTTACCTGGCCT	0.264																																						ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(2200-2202)Tta>Gta		chromosome 7 open reading frame 63							82	81	81					7																	89934069		1789	4051	5840	SO:0001583	missense	79846						binding	g.chr7:89934069T>G																												ENST00000389297.4:c.2200T>G	7.37:g.89934069T>G	ENSP00000373948:p.Leu734Val		Somatic				C7orf63_ENST00000316089.8_Missense_Mutation_p.L688V|C7orf63_ENST00000497910.1_Missense_Mutation_p.L716V	p.L734V	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	WXS	Illumina GAIIx	Phase_I	A5D8W1	CG063_HUMAN			19	2451	+			734					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.2200T>G	CCDS43613.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.63|17.63	3.437087|3.437087	0.62955|0.62955	.|.	.|.	ENSG00000105792|ENSG00000105792	ENST00000412839|ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577	.|T;T;T;T	.|0.29397	.|2.22;2.13;2.24;1.57	5.79|5.79	3.11|3.11	0.35812|0.35812	.|.	.|0.000000	.|0.56097	.|D	.|0.000028	T|T	0.52240|0.52240	0.1722|0.1722	M|M	0.78801|0.78801	2.425|2.425	0.38159|0.38159	D|D	0.938988|0.938988	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.988;0.996	T|T	0.58261|0.58261	-0.7667|-0.7667	5|10	.|0.62326	.|D	.|0.03	-9.464|-9.464	9.2378|9.2378	0.37477|0.37477	0.0:0.2267:0.0:0.7733|0.0:0.2267:0.0:0.7733	.|.	.|716;734	.|A5D8W1-5;A5D8W1	.|.;CG063_HUMAN	C|V	28|734;688;716;271	.|ENSP00000373948:L734V;ENSP00000321753:L688V;ENSP00000419549:L716V;ENSP00000391571:L271V	.|ENSP00000321753:L688V	F|L	+|+	2|1	0|2	C7orf63|C7orf63	89772005|89772005	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	1.835000|1.835000	0.39181|0.39181	1.022000|1.022000	0.39626|0.39626	-0.256000|-0.256000	0.11100|0.11100	TTT|TTA		0.264	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			14	19	0	0	0	1	0	14	19					G	89934069	T	G	89934069	3	3	48	1	0	0	0	0	1	0	0	0	2411	1838	64	4	2274	4	C7orf63	7	89934069	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	4864	89934069	69204594	1968	6436										
AKAP9	10142	broad.mit.edu	37	chr7	91724364	91724364	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttaaagataagacagatgaAgtacatttgcttaatgacac	8	5	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:91724364A>G	ENST00000359028.2	+	40	9843	c.9618A>G	c.(9616-9618)gaA>gaG	p.E3206E	AKAP9_ENST00000356239.3_Silent_p.E3202E|AKAP9_ENST00000358100.2_Silent_p.E3152E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3206					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)			AGACAGATGAAGTACATTTGC	0.383			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(9616-9618)gaA>gaG		A kinase (PRKA) anchor protein 9							77	78	78					7																	91724364		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91724364A>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.9618A>G	7.37:g.91724364A>G			Somatic				AKAP9_ENST00000358100.2_Silent_p.E3152E|AKAP9_ENST00000356239.3_Silent_p.E3202E	p.E3206E			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)		40	9843	+	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)		3206					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.9618A>G																																																																																					0.383	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		18	33	0	0	0	1	0	18	33					G	91724364	A	G	91724364	2	3	48	1	0	0	0	0	0	0	0	1	459	69	3	4		4	AKAP9	7	91724364	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1790295	91724364	67414299	1969	6437										
CYP51A1	1595	broad.mit.edu	37	chr7	91755658	91755658	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atacagctgtgctaccttttCattgagttgacttctgattt	7	8	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:91755658C>A	ENST00000003100.8	-	5	844	c.679G>T	c.(679-681)Gaa>Taa	p.E227*	CYP51A1_ENST00000450723.1_Nonsense_Mutation_p.E122*|LRRD1_ENST00000422722.1_5'UTR	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	221					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|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)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	GCTACCTTTTCATTGAGTTGA	0.428																																					GBM(70;1100 1190 11592 25836 51397)	ENST00000003100.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10						c.(679-681)Gaa>Taa		cytochrome P450, family 51, subfamily A, polypeptide 1	Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)						51	45	47					7																	91755658		2203	4300	6503	SO:0001587	stop_gained	1595				cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity	g.chr7:91755658C>A	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"Cytochrome P450s"	2649	protein-coding gene	gene with protein product		601637	"cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.679G>T	7.37:g.91755658C>A	ENSP00000003100:p.Glu227*		Somatic				LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Nonsense_Mutation_p.E122*	p.E227*	NM_000786.3	NP_000777.1	WXS	Illumina GAIIx	Phase_I	Q16850	CP51A_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		5	844	-	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		221					A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Nonsense_Mutation	SNP	ENST00000003100.8	37	c.679G>T	CCDS5623.1	.	.	.	.	.	.	.	.	.	.	C	37	6.496097	0.97612	.	.	ENSG00000001630	ENST00000003100;ENST00000496998;ENST00000450723	.	.	.	5.43	4.56	0.56223	.	0.089922	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	14.2425	0.65966	0.0:0.9282:0.0:0.0717	.	.	.	.	X	227;167;122	.	ENSP00000003100:E227X	E	-	1	0	CYP51A1	91593594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.060000	0.71141	1.423000	0.47198	0.650000	0.86243	GAA		0.428	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4			6	13	1	0	3.59834e-05	1	3.93264e-05	6	13					A	91755658	C	A	91755658	4	1	48	1	0	0	0	0	0	1	0	0	4197	835	29	2	874	2	CYP51A1	7	91755658	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	31294	91755658	67383005	1970	6438										
PEX1	5189	broad.mit.edu	37	chr7	92131270	92131270	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgatccacaagtactgtaaAatctctagccacaaacccgc	5	14	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92131270A>C	ENST00000248633.4	-	14	2445	c.2350T>G	c.(2350-2352)Ttt>Gtt	p.F784V	PEX1_ENST00000428214.1_Missense_Mutation_p.F727V|PEX1_ENST00000541751.1_Intron|PEX1_ENST00000438045.1_Missense_Mutation_p.F462V	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	784					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGTACTGTAAAATCTCTAGCC	0.378																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2350-2352)Ttt>Gtt		peroxisomal biogenesis factor 1							160	174	170					7																	92131270		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92131270A>C	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2350T>G	7.37:g.92131270A>C	ENSP00000248633:p.Phe784Val		Somatic				PEX1_ENST00000438045.1_Missense_Mutation_p.F462V|PEX1_ENST00000541751.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.F727V	p.F784V	NM_000466.2	NP_000457.1	WXS	Illumina GAIIx	Phase_I	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		14	2445	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	784					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.2350T>G	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.033133	0.54896	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;T	0.81659	-1.52;-1.52;2.4	5.15	5.15	0.70609	.	0.106321	0.64402	D	0.000004	T	0.74291	0.3697	L	0.28344	0.845	0.80722	D	1	B;P;B	0.49783	0.032;0.928;0.245	B;P;B	0.45071	0.035;0.468;0.077	T	0.78270	-0.2269	10	0.59425	D	0.04	-15.2902	15.1338	0.72545	1.0:0.0:0.0:0.0	.	462;576;784	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	V	462;784;727	ENSP00000410438:F462V;ENSP00000248633:F784V;ENSP00000394413:F727V	ENSP00000248633:F784V	F	-	1	0	PEX1	91969206	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	6.010000	0.70753	2.170000	0.68504	0.459000	0.35465	TTT		0.378	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		52	114	0	0	0	1	0	52	114					C	92131270	A	C	92131270	3	2	48	1	0	0	0	0	1	0	0	0	11744	14	1	4	1545	4	PEX1	7	92131270	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	375612	92131270	67007393	1971	6439										
C7orf64	84060	broad.mit.edu	37	chr7	92158959	92158959	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaagtttatcttattaaatTtatgaacttacaaagtgcaa	5	4	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92158959T>G	ENST00000265732.5	+	2	322	c.281T>G	c.(280-282)tTt>tGt	p.F94C	RBM48_ENST00000481551.1_Missense_Mutation_p.F94C|PEX1_ENST00000428214.1_5'Flank|PEX1_ENST00000248633.4_5'Flank|PEX1_ENST00000438045.1_5'Flank	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	94	RRM.					nucleus (GO:0005634)	RNA binding (GO:0003723)										CTTATTAAATTTATGAACTTA	0.348																																						ENST00000481551.1																			0											c.(280-282)tTt>tGt		RNA binding motif protein 48							67	64	65					7																	92158959		1828	4080	5908	SO:0001583	missense	84060						nucleotide binding	g.chr7:92158959T>G	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"RNA binding motif (RRM) containing"	21785	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 64"	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.281T>G	7.37:g.92158959T>G	ENSP00000265732:p.Phe94Cys		Somatic				RBM48_ENST00000265732.5_Missense_Mutation_p.F94C	p.F94C			WXS	Illumina GAIIx	Phase_I	Q5RL73	CG064_HUMAN			2	322	+			94					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	c.281T>G	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347233	0.82022	.	.	ENSG00000127993	ENST00000509224;ENST00000265732;ENST00000481551;ENST00000496410;ENST00000450580	.	.	.	5.23	5.23	0.72850	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.83848	0.5343	M	0.86420	2.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	D	0.87090	0.2172	9	0.87932	D	0	.	15.41	0.74911	0.0:0.0:0.0:1.0	.	94;94;94	B4DGJ6;B7Z2K5;Q5RL73	.;.;CG064_HUMAN	C	96;94;94;36;94	.	ENSP00000265732:F94C	F	+	2	0	C7orf64	91996895	1.000000	0.71417	0.918000	0.36340	0.949000	0.60115	5.933000	0.70130	2.097000	0.63578	0.533000	0.62120	TTT		0.348	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		8	17	0	0	0	1	0	8	17					G	92158959	T	G	92158959	3	3	48	1	0	0	0	0	1	0	0	0	2412	1841	64	4	287	4	C7orf64	7	92158959	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	27689	92158959	66979704	1972	6440										
CDK6	1021	broad.mit.edu	37	chr7	92462505	92462505	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcgccggtctgcacccgcaCgcgcttcaacgccacgaaac	9	19	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92462505C>T	ENST00000265734.4	-	2	544	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	CDK6_ENST00000491250.1_5'Flank|CDK6_ENST00000424848.2_Missense_Mutation_p.V45M	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	45	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGCACCCGCACGCGCTTCAAC	0.662			T	MLLT10	ALL																																	ENST00000265734.4				Dom	yes		7	7q21-q22	1021	T	cyclin-dependent kinase 6			L	MLLT10		ALL		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11						c.(133-135)Gtg>Atg		cyclin-dependent kinase 6							31	25	27					7																	92462505		2202	4300	6502	SO:0001583	missense	1021				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:92462505C>T		CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"Cyclin-dependent kinases"	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.133G>A	7.37:g.92462505C>T	ENSP00000265734:p.Val45Met		Somatic				CDK6_ENST00000424848.2_Missense_Mutation_p.V45M	p.V45M	NM_001259.6	NP_001250.1	WXS	Illumina GAIIx	Phase_I	Q00534	CDK6_HUMAN	STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		2	544	-	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		45			Protein kinase.		A4D1G0	Missense_Mutation	SNP	ENST00000265734.4	37	c.133G>A	CCDS5628.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791770	0.50102	.	.	ENSG00000105810	ENST00000265734;ENST00000424848	T;T	0.68331	-0.32;-0.32	5.96	4.14	0.48551	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055699	0.64402	D	0.000001	T	0.67277	0.2876	N	0.17379	0.485	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.71457	-0.4587	10	0.87932	D	0	.	10.8242	0.46622	0.1323:0.8006:0.0:0.0672	.	45	Q00534	CDK6_HUMAN	M	45	ENSP00000265734:V45M;ENSP00000397087:V45M	ENSP00000265734:V45M	V	-	1	0	CDK6	92300441	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	6.004000	0.70709	1.512000	0.48834	-0.188000	0.12872	GTG		0.662	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254605.2			6	13	0	0	0	1	0	6	13					T	92462505	C	T	92462505	3	4	48	1	0	0	0	0	1	0	0	0	3150	536	19	1	875	1	CDK6	7	92462505	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	303546	92462505	66676158	1973	6441										
SAMD9L	219285	broad.mit.edu	37	chr7	92761694	92761694	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaacttctatttcacccaaGaaacaagctgtgttatacat	4	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92761694G>T	ENST00000318238.4	-	5	4807	c.3591C>A	c.(3589-3591)ttC>ttA	p.F1197L	SAMD9L_ENST00000411955.1_Missense_Mutation_p.F1197L|SAMD9L_ENST00000437805.1_Missense_Mutation_p.F1197L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1197					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTCACCCAAGAAACAAGCTG	0.378																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(3589-3591)ttC>ttA		sterile alpha motif domain containing 9-like							147	144	145					7																	92761694		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92761694G>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3591C>A	7.37:g.92761694G>T	ENSP00000326247:p.Phe1197Leu		Somatic				SAMD9L_ENST00000411955.1_Missense_Mutation_p.F1197L|SAMD9L_ENST00000437805.1_Missense_Mutation_p.F1197L	p.F1197L	NM_152703.2	NP_689916.2	WXS	Illumina GAIIx	Phase_I	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	4807	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1197					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.3591C>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854531	0.32791	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.22743	1.94;1.94;1.94	4.88	0.979	0.19745	.	0.369738	0.25414	N	0.030854	T	0.20700	0.0498	L	0.51422	1.61	0.09310	N	1	P	0.52316	0.952	P	0.45753	0.492	T	0.09684	-1.0663	10	0.72032	D	0.01	-11.7803	8.0759	0.30716	0.5504:0.0:0.4496:0.0	.	1197	Q8IVG5	SAM9L_HUMAN	L	1197	ENSP00000326247:F1197L;ENSP00000405760:F1197L;ENSP00000408796:F1197L	ENSP00000326247:F1197L	F	-	3	2	SAMD9L	92599630	0.947000	0.32204	0.233000	0.24025	0.313000	0.28021	2.052000	0.41316	0.263000	0.21812	0.467000	0.42956	TTC		0.378	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		42	68	1	0	1.15505e-17	1	1.55342e-17	42	68					T	92761694	G	T	92761694	3	4	48	1	0	0	0	0	1	0	0	0	13842	933	33	2	1167	2	SAMD9L	7	92761694	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	299189	92761694	66376969	1974	6442										
SAMD9L	219285	broad.mit.edu	37	chr7	92764273	92764273	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttacaaacagtgaaagatTttggttttgtttccatattt	6	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92764273T>G	ENST00000318238.4	-	5	2228	c.1012A>C	c.(1012-1014)Aat>Cat	p.N338H	SAMD9L_ENST00000411955.1_Missense_Mutation_p.N338H|SAMD9L_ENST00000437805.1_Missense_Mutation_p.N338H	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	338					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGTGAAAGATTTTGGTTTTGT	0.323																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1012-1014)Aat>Cat		sterile alpha motif domain containing 9-like							95	102	100					7																	92764273		2202	4300	6502	SO:0001583	missense	219285							g.chr7:92764273T>G	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1012A>C	7.37:g.92764273T>G	ENSP00000326247:p.Asn338His		Somatic				SAMD9L_ENST00000411955.1_Missense_Mutation_p.N338H|SAMD9L_ENST00000437805.1_Missense_Mutation_p.N338H	p.N338H	NM_152703.2	NP_689916.2	WXS	Illumina GAIIx	Phase_I	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	2228	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		338					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1012A>C	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	T	0.696	-0.792485	0.02884	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.12672	2.66;2.66;2.66	4.74	-0.258	0.12975	.	0.572500	0.14789	N	0.298328	T	0.10723	0.0262	N	0.14661	0.345	0.09310	N	1	P	0.36249	0.545	P	0.45138	0.471	T	0.30475	-0.9977	10	0.54805	T	0.06	-0.8597	8.3797	0.32463	0.0:0.5528:0.0:0.4472	.	338	Q8IVG5	SAM9L_HUMAN	H	338	ENSP00000326247:N338H;ENSP00000405760:N338H;ENSP00000408796:N338H	ENSP00000326247:N338H	N	-	1	0	SAMD9L	92602209	0.001000	0.12720	0.006000	0.13384	0.044000	0.14063	-0.105000	0.10907	-0.253000	0.09514	-0.467000	0.05162	AAT		0.323	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		15	88	0	0	0	1	0	15	88					G	92764273	T	G	92764273	3	3	48	1	0	0	0	0	1	0	0	0	13842	1841	64	4	3746	4	SAMD9L	7	92764273	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2579	92764273	66374390	1975	6443										
HEPACAM2	253012	broad.mit.edu	37	chr7	92838084	92838084	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtaggtgttggggggatgaGaatcagcagaacaatcaaat	14	4	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92838084G>T	ENST00000394468.2	-	4	898	c.821C>A	c.(820-822)tCt>tAt	p.S274Y	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.S262Y|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.S262Y|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.S297Y	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	274	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						GGGGGGATGAGAATCAGCAGA	0.438																																						ENST00000394468.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(820-822)tCt>tAt		HEPACAM family member 2							143	137	139					7																	92838084		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92838084G>T	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.821C>A	7.37:g.92838084G>T	ENSP00000377980:p.Ser274Tyr		Somatic				HEPACAM2_ENST00000341723.4_Missense_Mutation_p.S262Y|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.S262Y|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.S297Y	p.S274Y	NM_001039372.1	NP_001034461.1	WXS	Illumina GAIIx	Phase_I	A8MVW5	HECA2_HUMAN			4	898	-			274			Ig-like C2-type 2.		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.821C>A	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464947	0.84425	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.23	5.23	0.72850	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84224	0.5425	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	D	0.85384	0.1121	10	0.87932	D	0	-20.0171	19.6959	0.96026	0.0:0.0:1.0:0.0	.	297;262;274;262	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	Y	274;262;262;297	ENSP00000377980:S274Y;ENSP00000340532:S262Y;ENSP00000389592:S262Y;ENSP00000390204:S297Y	ENSP00000340532:S262Y	S	-	2	0	HEPACAM2	92676020	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.610000	0.90902	2.826000	0.97356	0.655000	0.94253	TCT		0.438	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		6	68	1	0	3.59834e-05	1	3.93264e-05	6	68					T	92838084	G	T	92838084	3	4	48	1	0	0	0	0	1	0	0	0	7062	942	33	2	595	2	HEPACAM2	7	92838084	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	73811	92838084	66300579	1976	6444										
CCDC132	55610	broad.mit.edu	37	chr7	92926544	92926544	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaagtgtcaattatttcaaGaattaccataggtaagaact	6	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92926544G>T	ENST00000305866.5	+	16	1478	c.1350G>T	c.(1348-1350)aaG>aaT	p.K450N	CCDC132_ENST00000541136.1_Missense_Mutation_p.K261N|CCDC132_ENST00000535481.1_Missense_Mutation_p.K170N|CCDC132_ENST00000544910.1_Missense_Mutation_p.K420N|CCDC132_ENST00000317751.6_Missense_Mutation_p.K181N	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	450						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.K450N(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTATTTCAAGAATTACCATA	0.284																																						ENST00000544910.1																			1	Substitution - Missense(1)	p.K450N(1)	large_intestine(1)	endometrium(1)|large_intestine(2)|lung(5)	8						c.(1258-1260)aaG>aaT		coiled-coil domain containing 132							53	51	52					7																	92926544		1793	4057	5850	SO:0001583	missense	55610							g.chr7:92926544G>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1350G>T	7.37:g.92926544G>T	ENSP00000307666:p.Lys450Asn		Somatic				CCDC132_ENST00000305866.5_Missense_Mutation_p.K450N|CCDC132_ENST00000317751.6_Missense_Mutation_p.K181N|CCDC132_ENST00000541136.1_Missense_Mutation_p.K261N|CCDC132_ENST00000535481.1_Missense_Mutation_p.K170N	p.K420N	NM_001257998.1	NP_001244927.1	WXS	Illumina GAIIx	Phase_I	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		17	1480	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		450					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.1260G>T	CCDS43617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.20|13.20	2.166804|2.166804	0.38217|0.38217	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751|ENST00000458707	T|.	0.47528|.	0.84|.	5.16|5.16	0.925|0.925	0.19424|0.19424	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66177|0.66177	0.2763|0.2763	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.99999|0.99999	D;D;D|.	0.71674|.	0.998;0.989;0.981|.	D;D;D|.	0.76071|.	0.987;0.985;0.966|.	T|T	0.60209|0.60209	-0.7308|-0.7308	10|5	0.62326|.	D|.	0.03|.	-21.6931|-21.6931	11.7633|11.7633	0.51916|0.51916	0.4384:0.0:0.5616:0.0|0.4384:0.0:0.5616:0.0	.|.	170;420;450|.	B4DS55;F5H5U7;Q96JG6|.	.;.;CC132_HUMAN|.	N|I	450;420;261;170;181|237	ENSP00000325582:K181N|.	ENSP00000307666:K450N|.	K|R	+|+	3|2	2|0	CCDC132|CCDC132	92764480|92764480	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.599000|0.599000	0.36880|0.36880	1.198000|1.198000	0.32223|0.32223	-0.251000|-0.251000	0.09542|0.09542	-1.151000|-1.151000	0.01829|0.01829	AAG|AGA		0.284	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		5	23	1	0	0.0215528	1	0.0219788	5	23					T	92926544	G	T	92926544	3	4	48	1	0	0	0	0	1	0	0	0	2769	933	33	2	1454	2	CCDC132	7	92926544	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	88460	92926544	66212119	1977	6445										
COL1A2	1278	broad.mit.edu	37	chr7	94052341	94052341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtggtcctcgtggtgaccaaGgtccagttggccgaactgga	15	10	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:94052341G>T	ENST00000297268.6	+	40	2947	c.2476G>T	c.(2476-2478)Ggt>Tgt	p.G826C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	826			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGACCAAGGTCCAGTTGG	0.562										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.(2476-2478)Ggt>Tgt		collagen, type I, alpha 2	Collagenase(DB00048)						163	152	155					7																	94052341		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94052341G>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2476G>T	7.37:g.94052341G>T	ENSP00000297268:p.Gly826Cys	HNSCC(75;0.22)	Somatic					p.G826C	NM_000089.3	NP_000080.2	WXS	Illumina GAIIx	Phase_I	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		40	2947	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		826		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2476G>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	33	5.251857	0.95336	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99637	-6.29	5.23	5.23	0.72850	.	0.055760	0.64402	D	0.000001	D	0.99813	0.9918	H	0.98276	4.19	0.80722	D	1	D	0.69078	0.997	D	0.65773	0.938	D	0.96838	0.9616	10	0.87932	D	0	.	19.1875	0.93649	0.0:0.0:1.0:0.0	.	826	P08123	CO1A2_HUMAN	C	826;827	ENSP00000297268:G826C	ENSP00000297268:G826C	G	+	1	0	COL1A2	93890277	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.624000	0.98398	2.614000	0.88457	0.563000	0.77884	GGT		0.562	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		44	71	1	0	1.15505e-17	1	1.55342e-17	44	71					T	94052341	G	T	94052341	3	4	48	1	0	0	0	0	1	0	0	0	3680	1000	35	5	2634	5	COL1A2	7	94052341	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1125797	94052341	65086322	1978	6446										
CASD1	64921	broad.mit.edu	37	chr7	94163031	94163031	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggtagcagtgaagcgctttCtcaatataaaatgaacatca	8	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:94163031C>T	ENST00000297273.4	+	7	832	c.545C>T	c.(544-546)tCt>tTt	p.S182F		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	182						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GAAGCGCTTTCTCAATATAAA	0.318																																						ENST00000297273.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(544-546)tCt>tTt		CAS1 domain containing 1							75	76	76					7																	94163031		2203	4299	6502	SO:0001583	missense	64921					integral to membrane		g.chr7:94163031C>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 12"	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.545C>T	7.37:g.94163031C>T	ENSP00000297273:p.Ser182Phe		Somatic					p.S182F	NM_022900.4	NP_075051.4	WXS	Illumina GAIIx	Phase_I	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		7	832	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		182					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.545C>T	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542510	0.45280	.	.	ENSG00000127995	ENST00000447923;ENST00000297273	T	0.15603	2.41	5.27	5.27	0.74061	.	0.789917	0.12091	N	0.500384	T	0.09862	0.0242	N	0.02011	-0.69	0.26158	N	0.980043	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.003;0.003;0.003	T	0.35301	-0.9794	10	0.49607	T	0.09	.	19.2565	0.93948	0.0:1.0:0.0:0.0	.	182;182;182	Q8WZ77;Q96PB1;B2RAS9	.;CASD1_HUMAN;.	F	113;182	ENSP00000297273:S182F	ENSP00000297273:S182F	S	+	2	0	CASD1	94000967	0.013000	0.17824	1.000000	0.80357	0.941000	0.58515	2.587000	0.46128	2.619000	0.88677	0.563000	0.77884	TCT		0.318	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		6	33	0	0	0	1	0	6	33					T	94163031	C	T	94163031	3	4	48	1	0	0	0	0	1	0	0	0	2666	913	32	3	571	3	CASD1	7	94163031	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	110690	94163031	64975632	1979	6447										
CASD1	64921	broad.mit.edu	37	chr7	94178860	94178860	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcagggtgcatttgagaagAtcttttctctttggccattg	10	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:94178860A>C	ENST00000297273.4	+	14	2016	c.1729A>C	c.(1729-1731)Atc>Ctc	p.I577L		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	577						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATTTGAGAAGATCTTTTCTCT	0.333																																						ENST00000297273.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(1729-1731)Atc>Ctc		CAS1 domain containing 1							189	179	183					7																	94178860		2203	4300	6503	SO:0001583	missense	64921					integral to membrane		g.chr7:94178860A>C	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 12"	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1729A>C	7.37:g.94178860A>C	ENSP00000297273:p.Ile577Leu		Somatic					p.I577L	NM_022900.4	NP_075051.4	WXS	Illumina GAIIx	Phase_I	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		14	2016	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		577					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.1729A>C	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.537453	0.45176	.	.	ENSG00000127995	ENST00000297273	T	0.52057	0.68	5.34	5.34	0.76211	.	0.142995	0.48286	D	0.000200	T	0.33904	0.0879	N	0.25992	0.78	0.36878	D	0.889267	B;B	0.26935	0.164;0.164	B;B	0.24848	0.056;0.056	T	0.40683	-0.9550	10	0.66056	D	0.02	.	8.9782	0.35948	0.8545:0.0:0.1455:0.0	.	577;577	Q8WZ77;Q96PB1	.;CASD1_HUMAN	L	577	ENSP00000297273:I577L	ENSP00000297273:I577L	I	+	1	0	CASD1	94016796	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.015000	0.49599	2.163000	0.67991	0.528000	0.53228	ATC		0.333	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		18	34	0	0	0	1	0	18	34					C	94178860	A	C	94178860	3	2	48	1	0	0	0	0	1	0	0	0	2666	333	12	4	1783	4	CASD1	7	94178860	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	15829	94178860	64959803	1980	6448										
PEG10	23089	broad.mit.edu	37	chr7	94292899	94292899	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagaagggacgagctctctGaagagatcaacaacttaaga	11	7	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:94292899G>A	ENST00000482108.1	+	2	510	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	PEG10_ENST00000488574.1_Missense_Mutation_p.E11K	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	11					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)			CGAGCTCTCTGAAGAGATCAA	0.527																																						ENST00000482108.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(31-33)Gaa>Aaa		paternally expressed 10							41	47	45					7																	94292899		2031	4157	6188	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94292899G>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.31G>A	7.37:g.94292899G>A	ENSP00000417587:p.Glu11Lys		Somatic				PEG10_ENST00000488574.1_Missense_Mutation_p.E11K	p.E11K	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	510	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		11					Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.31G>A	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485390	0.44147	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.12774	2.65;2.65	4.35	3.45	0.39498	.	.	.	.	.	T	0.08891	0.0220	N	0.19112	0.55	0.09310	N	1	B;B	0.30914	0.164;0.3	B;B	0.23275	0.027;0.045	T	0.22730	-1.0208	9	0.52906	T	0.07	.	10.351	0.43937	0.0:0.1998:0.8002:0.0	.	87;11	B4DSP0;Q86TG7	.;PEG10_HUMAN	K	11	ENSP00000417587:E11K;ENSP00000418944:E11K	ENSP00000417587:E11K	E	+	1	0	PEG10	94130835	0.230000	0.23740	0.628000	0.29241	0.913000	0.54294	1.948000	0.40303	1.170000	0.42753	0.555000	0.69702	GAA		0.527	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		12	7	0	0	0	1	0	12	7					A	94292899	G	A	94292899	3	1	48	1	0	0	0	0	1	0	0	0	11728	1294	45	3	265	3	PEG10	7	94292899	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	114039	94292899	64845764	1981	6449										
SLC25A13	10165	broad.mit.edu	37	chr7	95813664	95813664	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgtttttatacatgagttCtcccacaaaagagccagttg	8	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:95813664C>A	ENST00000265631.5	-	11	1238	c.1102G>T	c.(1102-1104)Gaa>Taa	p.E368*	SLC25A13_ENST00000416240.2_Nonsense_Mutation_p.E369*|SLC25A13_ENST00000542654.1_Nonsense_Mutation_p.E260*			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	368					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.E368*(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)	TACATGAGTTCTCCCACAAAA	0.398																																						ENST00000416240.2																			1	Substitution - Nonsense(1)	p.E368*(1)	large_intestine(1)	breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(1105-1107)Gaa>Taa		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						92	87	89					7																	95813664		2203	4300	6503	SO:0001587	stop_gained	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.chr7:95813664C>A	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.1102G>T	7.37:g.95813664C>A	ENSP00000265631:p.Glu368*		Somatic				SLC25A13_ENST00000542654.1_Nonsense_Mutation_p.E260*|SLC25A13_ENST00000265631.5_Nonsense_Mutation_p.E368*	p.E369*	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)		11	1295	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		368					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Nonsense_Mutation	SNP	ENST00000265631.5	37	c.1105G>T	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	40	8.093046	0.98651	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-19.4567	18.1211	0.89572	0.0:1.0:0.0:0.0	.	.	.	.	X	368;369;260	.	ENSP00000265631:E368X	E	-	1	0	SLC25A13	95651600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.583000	0.87209	0.655000	0.94253	GAA		0.398	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		6	52	1	0	0.0215528	1	0.0219788	6	52					A	95813664	C	A	95813664	4	1	48	1	0	0	0	0	0	1	0	0	14490	922	32	2	957	2	SLC25A13	7	95813664	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1520765	95813664	63324999	1982	6450										
SLC25A13	10165	broad.mit.edu	37	chr7	95813703	95813703	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgatcgttggttctgcattcGagtttttacaagatcgatag	10	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:95813703G>A	ENST00000265631.5	-	11	1199	c.1063C>T	c.(1063-1065)Cga>Tga	p.R355*	SLC25A13_ENST00000416240.2_Nonsense_Mutation_p.R356*|SLC25A13_ENST00000542654.1_Nonsense_Mutation_p.R247*			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	355					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTCTGCATTCGAGTTTTTACA	0.373																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	GRCh37	CM090577	SLC25A13	M		c.(1066-1068)Cga>Tga		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						77	72	74					7																	95813703		2203	4300	6503	SO:0001587	stop_gained	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.chr7:95813703G>A	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.1063C>T	7.37:g.95813703G>A	ENSP00000265631:p.Arg355*		Somatic				SLC25A13_ENST00000542654.1_Nonsense_Mutation_p.R247*|SLC25A13_ENST00000265631.5_Nonsense_Mutation_p.R355*	p.R356*	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)		11	1256	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		355					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Nonsense_Mutation	SNP	ENST00000265631.5	37	c.1066C>T	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	G	40	8.152834	0.98680	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	.	.	.	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7694	17.8857	0.88854	0.0:0.0:1.0:0.0	.	.	.	.	X	355;356;247	.	ENSP00000265631:R355X	R	-	1	2	SLC25A13	95651639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.526000	0.85167	0.655000	0.94253	CGA		0.373	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		19	25	0	0	0	1	0	19	25					A	95813703	G	A	95813703	4	1	48	1	0	0	0	0	0	1	0	0	14490	1066	37	1	996	1	SLC25A13	7	95813703	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	39	95813703	63324960	1983	6451										
DLX5	1749	broad.mit.edu	37	chr7	96650352	96650352	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgatcttcttgatcttggatCttttgttctgaaaccagatt	7	7	5	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:96650352C>A	ENST00000222598.4	-	3	1039	c.566G>T	c.(565-567)aGa>aTa	p.R189I	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	189					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GATCTTGGATCTTTTGTTCTG	0.587																																						ENST00000222598.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20						c.(565-567)aGa>aTa		distal-less homeobox 5							68	71	70					7																	96650352		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.chr7:96650352C>A		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.566G>T	7.37:g.96650352C>A	ENSP00000222598:p.Arg189Ile		Somatic				DLX5_ENST00000493764.1_5'UTR	p.R189I	NM_005221.5	NP_005212.1	WXS	Illumina GAIIx	Phase_I	P56178	DLX5_HUMAN			3	1039	-	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)		189					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.566G>T	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.687430	0.68157	.	.	ENSG00000105880	ENST00000222598	D	0.99311	-5.73	5.08	5.08	0.68730	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96835	0.9614	10	0.87932	D	0	-8.8132	18.6767	0.91531	0.0:1.0:0.0:0.0	.	189	P56178	DLX5_HUMAN	I	189	ENSP00000222598:R189I	ENSP00000222598:R189I	R	-	2	0	DLX5	96488288	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	7.604000	0.82830	2.640000	0.89533	0.655000	0.94253	AGA		0.587	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			11	26	1	0	1.61879e-10	1	1.99092e-10	11	26					A	96650352	C	A	96650352	3	1	48	1	0	0	0	0	1	0	0	0	4576	913	32	2	307	2	DLX5	7	96650352	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	836649	96650352	62488311	1984	6452										
LMTK2	22853	broad.mit.edu	37	chr7	97788728	97788728	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacctcctggtgtttgagttCtgtgacttggtaagttcctt	10	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:97788728C>A	ENST00000297293.5	+	6	941	c.648C>A	c.(646-648)ttC>ttA	p.F216L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	216	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)					TGTTTGAGTTCTGTGACTTGG	0.423																																						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.(646-648)ttC>ttA		lemur tyrosine kinase 2							212	194	200					7																	97788728		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.chr7:97788728C>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.648C>A	7.37:g.97788728C>A	ENSP00000297293:p.Phe216Leu		Somatic					p.F216L	NM_014916.3	NP_055731.2	WXS	Illumina GAIIx	Phase_I	Q8IWU2	LMTK2_HUMAN			6	941	+	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)		216			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.648C>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494741	0.44352	.	.	ENSG00000164715	ENST00000297293	T	0.61158	0.13	5.2	2.08	0.27032	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.175951	0.52532	D	0.000078	T	0.35941	0.0949	N	0.16833	0.445	0.36415	D	0.863972	B	0.17038	0.02	B	0.23150	0.044	T	0.18178	-1.0345	10	0.30078	T	0.28	.	6.626	0.22830	0.0:0.5789:0.2233:0.1978	.	216	Q8IWU2	LMTK2_HUMAN	L	216	ENSP00000297293:F216L	ENSP00000297293:F216L	F	+	3	2	LMTK2	97626664	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.227000	0.32576	0.551000	0.29008	-0.123000	0.14984	TTC		0.423	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		14	40	1	0	2.61681e-11	1	3.25035e-11	14	40					A	97788728	C	A	97788728	3	1	48	1	0	0	0	0	1	0	0	0	8868	912	32	2	670	2	LMTK2	7	97788728	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1138376	97788728	61349935	1985	6453										
NPTX2	4885	broad.mit.edu	37	chr7	98257875	98257875	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgtgggtggacaataacgtCgatgtgttcggaggggcctc	16	9	0	0	rs199857878		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98257875C>T	ENST00000265634.3	+	5	1395	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	410	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.V410V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACAATAACGTCGATGTGTTCG	0.582																																						ENST00000265634.3																			1	Substitution - coding silent(1)	p.V410V(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1228-1230)gtC>gtT		neuronal pentraxin II		C		0,4406		0,0,2203	75	65	68		1230	-7.4	0.7	7		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NPTX2	NM_002523.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		410/432	98257875	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98257875C>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.1230C>T	7.37:g.98257875C>T			Somatic					p.V410V	NM_002523.2	NP_002514.1	WXS	Illumina GAIIx	Phase_I	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		5	1395	+	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)		410			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.1230C>T	CCDS5657.1																																																																																				0.582	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		4	10	0	0	0	1	0	4	10					T	98257875	C	T	98257875	2	4	48	1	0	0	0	0	0	0	0	1	10612	871	31	1		1	NPTX2	7	98257875	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	469147	98257875	60880788	1986	6454										
TRRAP	8295	broad.mit.edu	37	chr7	98515126	98515126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgtctcaccgtccctgtgCggctgagctcgcttttgccg	12	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98515126C>T	ENST00000359863.4	+	20	2655	c.2446C>T	c.(2446-2448)Cgg>Tgg	p.R816W	TRRAP_ENST00000446306.3_Missense_Mutation_p.R815W|TRRAP_ENST00000355540.3_Missense_Mutation_p.R816W	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	816					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.R816W(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	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)			CGTCCCTGTGCGGCTGAGCTC	0.577																																						ENST00000359863.4																			2	Substitution - Missense(2)	p.R816W(2)	pancreas(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.(2446-2448)Cgg>Tgg		transformation/transcription domain-associated protein							152	126	135					7																	98515126		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.chr7:98515126C>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.2446C>T	7.37:g.98515126C>T	ENSP00000352925:p.Arg816Trp		Somatic				TRRAP_ENST00000446306.3_Missense_Mutation_p.R815W|TRRAP_ENST00000355540.3_Missense_Mutation_p.R816W	p.R816W	NM_001244580.1	NP_001231509.1	WXS	Illumina GAIIx	Phase_I	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		20	2655	+	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)		816					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.2446C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160699	0.57368	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.07216	3.21;3.21	5.56	3.71	0.42584	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	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	T	0.54423	-0.8296	10	0.87932	D	0	.	14.7884	0.69821	0.2633:0.7367:0.0:0.0	.	816;530;816	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	W	816;816;814	ENSP00000352925:R816W;ENSP00000347733:R816W	ENSP00000347733:R816W	R	+	1	2	TRRAP	98353062	0.980000	0.34600	0.975000	0.42487	0.089000	0.18198	2.056000	0.41355	0.683000	0.31428	0.456000	0.33151	CGG		0.577	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		18	46	0	0	0	1	0	18	46					T	98515126	C	T	98515126	3	4	48	1	0	0	0	0	1	0	0	0	16616	759	27	1	2520	1	TRRAP	7	98515126	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	257251	98515126	60623537	1987	6455										
TRRAP	8295	broad.mit.edu	37	chr7	98519436	98519436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccacgtggcctaccgtgtgCtcggtaagtttggcggcagt	14	12	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98519436C>T	ENST00000359863.4	+	21	2892	c.2683C>T	c.(2683-2685)Ctc>Ttc	p.L895F	TRRAP_ENST00000446306.3_Missense_Mutation_p.L894F|TRRAP_ENST00000355540.3_Missense_Mutation_p.L895F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	895					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)			CTACCGTGTGCTCGGTAAGTT	0.547																																						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.(2683-2685)Ctc>Ttc		transformation/transcription domain-associated protein							164	130	142					7																	98519436		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.chr7:98519436C>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.2683C>T	7.37:g.98519436C>T	ENSP00000352925:p.Leu895Phe		Somatic				TRRAP_ENST00000446306.3_Missense_Mutation_p.L894F|TRRAP_ENST00000355540.3_Missense_Mutation_p.L895F	p.L895F	NM_001244580.1	NP_001231509.1	WXS	Illumina GAIIx	Phase_I	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		21	2892	+	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)		895					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.2683C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556781	0.86231	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.77489	-1.1;-1.1	5.94	5.94	0.96194	Armadillo-type fold (2);	0.000000	0.64402	D	0.000004	D	0.91835	0.7416	M	0.93939	3.475	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	0.92935	0.6367	10	0.87932	D	0	.	20.3593	0.98849	0.0:1.0:0.0:0.0	.	895;609;895	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	F	895;895;893	ENSP00000352925:L895F;ENSP00000347733:L895F	ENSP00000347733:L895F	L	+	1	0	TRRAP	98357372	1.000000	0.71417	0.186000	0.23195	0.810000	0.45777	4.397000	0.59690	2.822000	0.97130	0.557000	0.71058	CTC		0.547	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		53	90	0	0	0	1	0	53	90					T	98519436	C	T	98519436	3	4	48	1	0	0	0	0	1	0	0	0	16616	797	28	3	2761	3	TRRAP	7	98519436	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4310	98519436	60619227	1988	6456										
TRRAP	8295	broad.mit.edu	37	chr7	98530911	98530911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagcacctgctccgacaccaGcctgccaacgcacagattgg	9	16	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98530911G>A	ENST00000359863.4	+	27	4109	c.3900G>A	c.(3898-3900)caG>caA	p.Q1300Q	TRRAP_ENST00000446306.3_Silent_p.Q1299Q|TRRAP_ENST00000355540.3_Silent_p.Q1300Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1300					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)			TCCGACACCAGCCTGCCAACG	0.582																																						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.(3898-3900)caG>caA		transformation/transcription domain-associated protein							99	75	83					7																	98530911		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.chr7:98530911G>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.3900G>A	7.37:g.98530911G>A			Somatic				TRRAP_ENST00000446306.3_Silent_p.Q1299Q|TRRAP_ENST00000355540.3_Silent_p.Q1300Q	p.Q1300Q	NM_001244580.1	NP_001231509.1	WXS	Illumina GAIIx	Phase_I	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		27	4109	+	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)		1300					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.3900G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	9.823	1.186302	0.21870	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.07	5.09	0.68999	.	.	.	.	.	T	0.61999	0.2392	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57860	-0.7738	4	.	.	.	.	10.8668	0.46860	0.1342:0.0:0.8658:0.0	.	.	.	.	N	1015	.	.	S	+	2	0	TRRAP	98368847	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.752000	0.55172	2.884000	0.98904	0.655000	0.94253	AGC		0.582	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		9	23	0	0	0	1	0	9	23					A	98530911	G	A	98530911	2	1	48	1	0	0	0	0	0	0	0	1	16616	962	34	3		3	TRRAP	7	98530911	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	11475	98530911	60607752	1989	6457										
TRRAP	8295	broad.mit.edu	37	chr7	98609882	98609882	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgcacaacctcgcccagttCgaaggcggggaaagcaaggt	13	12	0	0	rs200231900		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98609882C>T	ENST00000359863.4	+	72	11693	c.11484C>T	c.(11482-11484)ttC>ttT	p.F3828F	TRRAP_ENST00000446306.3_Silent_p.F3817F|TRRAP_ENST00000355540.3_Silent_p.F3799F|AC004893.11_ENST00000360902.1_RNA	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3828	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				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.F3799F(1)|p.F3828F(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)			TCGCCCAGTTCGAAGGCGGGG	0.642																																						ENST00000359863.4																			2	Substitution - coding silent(2)	p.F3799F(1)|p.F3828F(1)	large_intestine(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.(11482-11484)ttC>ttT		transformation/transcription domain-associated protein							53	47	49					7																	98609882		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.chr7:98609882C>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.11484C>T	7.37:g.98609882C>T			Somatic				TRRAP_ENST00000446306.3_Silent_p.F3817F|TRRAP_ENST00000355540.3_Silent_p.F3799F	p.F3828F	NM_001244580.1	NP_001231509.1	WXS	Illumina GAIIx	Phase_I	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		72	11693	+	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)		3828			FATC.		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.11484C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	8.985	0.976247	0.18736	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.16	-6.07	0.02158	.	.	.	.	.	T	0.64670	0.2619	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67063	-0.5765	4	.	.	.	.	16.3295	0.83004	0.0:0.2175:0.0:0.7825	.	.	.	.	L	3557	.	.	S	+	2	0	TRRAP	98447818	0.000000	0.05858	0.457000	0.27056	0.951000	0.60555	-3.283000	0.00527	-1.185000	0.02716	-0.982000	0.02568	TCG		0.642	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		14	14	0	0	0	1	0	14	14					T	98609882	C	T	98609882	2	4	48	1	0	0	0	0	0	0	0	1	16616	883	31	1		1	TRRAP	7	98609882	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	78971	98609882	60528781	1990	6458										
BUD31	8896	broad.mit.edu	37	chr7	99013774	99013774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccccagctgaaacagaaccGcatgagggaaagaggaaagt	12	9	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99013774G>A	ENST00000403633.2	+	4	637	c.108G>A	c.(106-108)ccG>ccA	p.P36P	BUD31_ENST00000222969.5_Silent_p.P36P|BUD31_ENST00000456893.1_Intron|BUD31_ENST00000431419.1_Silent_p.P7P|snoU13_ENST00000458831.1_RNA			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	36					regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P36P(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AAACAGAACCGCATGAGGGAA	0.463																																						ENST00000403633.2																			1	Substitution - coding silent(1)	p.P36P(1)	lung(1)	autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4						c.(106-108)ccG>ccA		BUD31 homolog (S. cerevisiae)							110	102	105					7																	99013774		2203	4300	6503	SO:0001819	synonymous_variant	8896				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:99013774G>A	BC022821	CCDS5663.1	7q22.1	2012-06-07	2007-01-12	2006-03-16	ENSG00000106245	ENSG00000106245			29629	protein-coding gene	gene with protein product	"G10 maternal transcript homolog (Xenopus laevis)", "functional spliceosome-associated protein 17"	603477	"BUD31 homolog (yeast)"			7841202	Standard	NM_003910		Approved	YCR063W, EDG-2, EDG2, G10, fSAP17, Cwc14	uc003uqg.4	P41223	OTTHUMG00000154602	ENST00000403633.2:c.108G>A	7.37:g.99013774G>A			Somatic				BUD31_ENST00000456893.1_Intron|BUD31_ENST00000431419.1_Silent_p.P7P|BUD31_ENST00000222969.5_Silent_p.P36P	p.P36P			WXS	Illumina GAIIx	Phase_I	P41223	BUD31_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	637	+	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		36					A4D274|B7Z4S9|D6W5S6|Q6IB53|Q9UDV1	Silent	SNP	ENST00000403633.2	37	c.108G>A	CCDS5663.1																																																																																				0.463	BUD31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336275.1	NM_003910		5	69	0	0	0	1	0	5	69					A	99013774	G	A	99013774	2	1	48	1	0	0	0	0	0	0	0	1	1576	1074	38	1		1	BUD31	7	99013774	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	403892	99013774	60124889	1991	6459										
ZNF655	79027	broad.mit.edu	37	chr7	99169914	99169914	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgttgattcctaagcagaaAatttcggaagaagtgcattc	9	7	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99169914A>G	ENST00000394163.2	+	3	366	c.183A>G	c.(181-183)aaA>aaG	p.K61K	GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000424881.1_Silent_p.K96K|ZNF655_ENST00000493277.1_Silent_p.K96K|ZNF655_ENST00000252713.4_Silent_p.K61K|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000486324.1_Intron	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	61					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CTAAGCAGAAAATTTCGGAAG	0.383																																						ENST00000424881.1																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16						c.(286-288)aaA>aaG		zinc finger protein 655							85	88	87					7																	99169914		2203	4300	6503	SO:0001819	synonymous_variant	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99169914A>G	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"Zinc fingers, C2H2-type", "-"	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.183A>G	7.37:g.99169914A>G			Somatic				ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000252713.4_Silent_p.K61K|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000394163.2_Silent_p.K61K|ZNF655_ENST00000493277.1_Silent_p.K96K	p.K96K	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	WXS	Illumina GAIIx	Phase_I	Q8N720	ZN655_HUMAN			4	508	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		61					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Silent	SNP	ENST00000394163.2	37	c.288A>G	CCDS5669.1																																																																																				0.383	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		18	48	0	0	0	1	0	18	48					G	99169914	A	G	99169914	2	3	48	1	0	0	0	0	0	0	0	1	18083	11	1	4		4	ZNF655	7	99169914	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	156140	99169914	59968749	1992	6460										
CYP3A43	64816	broad.mit.edu	37	chr7	99454470	99454470	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttccagcatcgagtagatttCtttcaacagatgatcgactc	7	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99454470C>A	ENST00000354829.2	+	9	916	c.813C>A	c.(811-813)ttC>ttA	p.F271L	CYP3A43_ENST00000342499.4_Missense_Mutation_p.F131L|CYP3A43_ENST00000417625.1_Missense_Mutation_p.F161L|CYP3A43_ENST00000415413.1_Missense_Mutation_p.F60L|CYP3A43_ENST00000312017.5_Missense_Mutation_p.F271L|CYP3A43_ENST00000444905.1_Missense_Mutation_p.F18L|CYP3A43_ENST00000222382.5_Missense_Mutation_p.F271L|CYP3A43_ENST00000477658.1_3'UTR	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	271			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)	GAGTAGATTTCTTTCAACAGA	0.443																																						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.(811-813)ttC>ttA		cytochrome P450, family 3, subfamily A, polypeptide 43	Cetirizine(DB00341)|Doxycycline(DB00254)						90	97	95					7																	99454470		2203	4300	6503	SO:0001583	missense	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99454470C>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.813C>A	7.37:g.99454470C>A	ENSP00000346887:p.Phe271Leu		Somatic				CYP3A43_ENST00000222382.5_Missense_Mutation_p.F271L|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000312017.5_Missense_Mutation_p.F271L|CYP3A43_ENST00000417625.1_Missense_Mutation_p.F161L|CYP3A43_ENST00000444905.1_Missense_Mutation_p.F18L|CYP3A43_ENST00000342499.4_Missense_Mutation_p.F131L|CYP3A43_ENST00000415413.1_Missense_Mutation_p.F60L	p.F271L	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	WXS	Illumina GAIIx	Phase_I	Q9HB55	CP343_HUMAN			9	916	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		271		Missing (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	c.813C>A	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830007	0.32329	.	.	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000342499;ENST00000444905;ENST00000415413;ENST00000312017;ENST00000222382	T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	2.26	-0.129	0.13502	.	0.119586	0.56097	N	0.000022	T	0.60011	0.2236	L	0.35854	1.095	0.39775	D	0.97221	B;P;B;B;B	0.43024	0.067;0.798;0.246;0.081;0.081	B;P;B;B;B	0.48030	0.112;0.564;0.124;0.106;0.106	T	0.53975	-0.8362	10	0.41790	T	0.15	.	4.1898	0.10416	0.0:0.3935:0.0:0.6065	.	161;131;271;271;271	Q495Y1;F8W6L8;Q9HB55-3;Q75MK2;Q9HB55	.;.;.;.;CP343_HUMAN	L	271;161;131;18;60;271;271	ENSP00000346887:F271L;ENSP00000416581:F161L;ENSP00000345351:F131L;ENSP00000405557:F18L;ENSP00000401521:F60L;ENSP00000312110:F271L;ENSP00000222382:F271L	ENSP00000222382:F271L	F	+	3	2	CYP3A43	99292406	0.745000	0.28261	0.374000	0.26016	0.212000	0.24457	-0.191000	0.09601	-0.037000	0.13646	0.195000	0.17529	TTC		0.443	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			29	60	1	0	6.07407e-21	1	8.36301e-21	29	60					A	99454470	C	A	99454470	3	1	48	1	0	0	0	0	1	0	0	0	4181	912	32	2	847	2	CYP3A43	7	99454470	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	284556	99454470	59684193	1993	6461										
AZGP1	563	broad.mit.edu	37	chr7	99564860	99564860	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taggccaggcacttcagtttCttcttttctcctggggcctg	10	12	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99564860C>A	ENST00000292401.4	-	4	799	c.663G>T	c.(661-663)aaG>aaT	p.K221N	AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	221	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ACTTCAGTTTCTTCTTTTCTC	0.582																																						ENST00000292401.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(661-663)aaG>aaT		alpha-2-glycoprotein 1, zinc-binding							29	32	31					7																	99564860		2202	4276	6478	SO:0001583	missense	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99564860C>A	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.663G>T	7.37:g.99564860C>A	ENSP00000292401:p.Lys221Asn		Somatic				AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR	p.K221N	NM_001185.3	NP_001176.1	WXS	Illumina GAIIx	Phase_I	P25311	ZA2G_HUMAN			4	799	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		221			Ig-like C1-type.		D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	c.663G>T	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	C	5.443	0.266813	0.10294	.	.	ENSG00000160862	ENST00000292401;ENST00000419575	T	0.02421	4.3	2.34	-1.59	0.08453	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.576380	0.04933	U	0.457113	T	0.01029	0.0034	N	0.01656	-0.775	0.09310	N	1	P	0.36065	0.535	B	0.28553	0.091	T	0.34254	-0.9836	10	0.87932	D	0	.	0.2056	0.00150	0.212:0.2776:0.2092:0.3012	.	221	P25311	ZA2G_HUMAN	N	221;71	ENSP00000292401:K221N	ENSP00000292401:K221N	K	-	3	2	AZGP1	99402796	0.000000	0.05858	0.009000	0.14445	0.102000	0.19082	-0.370000	0.07523	-0.132000	0.11557	0.313000	0.20887	AAG		0.582	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		8	20	1	0	5.4927e-09	1	6.54492e-09	8	20					A	99564860	C	A	99564860	3	1	48	1	0	0	0	0	1	0	0	0	1239	912	32	2	237	2	AZGP1	7	99564860	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	110390	99564860	59573803	1994	6462										
STAG3	10734	broad.mit.edu	37	chr7	99798886	99798886	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attcccctttctcccccaaaGcactcatgacctgactcgct	4	18	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99798886G>A	ENST00000426455.1	+	21	2539		c.e21-1		GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Splice_Site|STAG3_ENST00000440830.1_Splice_Site|STAG3_ENST00000317296.5_Splice_Site|GATS_ENST00000436886.2_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3						chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCCCCCAAAGCACTCATGAC	0.532																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.e21-1		stromal antigen 3							110	110	110					7																	99798886		2203	4300	6503	SO:0001630	splice_region_variant	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99798886G>A	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.2133-1G>A	7.37:g.99798886G>A			Somatic				GATS_ENST00000436886.2_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Splice_Site|STAG3_ENST00000440830.1_Splice_Site|STAG3_ENST00000394018.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9UJ98	STAG3_HUMAN			21	2539	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)							A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Splice_Site	SNP	ENST00000426455.1	37		CCDS34703.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076662	0.76415	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6284	0.88099	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAG3	99636822	1.000000	0.71417	0.911000	0.35937	0.887000	0.51463	9.107000	0.94261	2.765000	0.95021	0.655000	0.94253	.		0.532	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447	Intron	28	78	0	0	0	1	0	28	78					A	99798886	G	A	99798886	5	1	48	1	0	0	0	0	0	0	1	0	15259	985	34	3	2210	3	STAG3	7	99798886	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	234026	99798886	59339777	1995	6463										
PCOLCE	5118	broad.mit.edu	37	chr7	100203323	100203323	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgcgctgaccttcgagaagTttgacctggagccggacacc	12	13	0	3	rs201385704		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100203323T>C	ENST00000223061.5	+	5	893	c.613T>C	c.(613-615)Ttt>Ctt	p.F205L	PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	205	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)					CTTCGAGAAGTTTGACCTGGA	0.677																																						ENST00000223061.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(613-615)Ttt>Ctt		procollagen C-endopeptidase enhancer							22	21	21					7																	100203323		2196	4290	6486	SO:0001583	missense	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100203323T>C	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.613T>C	7.37:g.100203323T>C	ENSP00000223061:p.Phe205Leu		Somatic					p.F205L	NM_002593.3	NP_002584.2	WXS	Illumina GAIIx	Phase_I	Q15113	PCOC1_HUMAN			5	893	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		205			CUB 2.		B2R9E1|O14550	Missense_Mutation	SNP	ENST00000223061.5	37	c.613T>C	CCDS5700.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.806545	0.90623	.	.	ENSG00000106333	ENST00000223061	T	0.21361	2.01	4.94	4.94	0.65067	CUB (5);	0.224065	0.38326	N	0.001733	T	0.30696	0.0773	L	0.47078	1.49	0.46631	D	0.999137	P	0.49447	0.924	P	0.53062	0.717	T	0.02226	-1.1192	10	0.52906	T	0.07	-7.729	12.5411	0.56169	0.0:0.0:0.0:1.0	.	205	Q15113	PCOC1_HUMAN	L	205	ENSP00000223061:F205L	ENSP00000223061:F205L	F	+	1	0	PCOLCE	100041259	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	2.517000	0.45529	1.858000	0.53909	0.383000	0.25322	TTT		0.677	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		7	7	0	0	0	1	0	7	7					C	100203323	T	C	100203323	3	2	48	1	0	0	0	0	1	0	0	0	11603	1725	60	4	631	4	PCOLCE	7	100203323	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	404437	100203323	58935340	1996	6464										
ZAN	7455	broad.mit.edu	37	chr7	100349380	100349380	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtatctccagtttcttccaCtggcccttctgaaaccactg	6	15	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100349380C>A	ENST00000348028.3	+	0	1817				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTTTCTTCCACTGGCCCTTCT	0.463																																						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)							75	82	80					7																	100349380		1871	4101	5972			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349380C>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.100349380C>A			Somatic				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	WXS	Illumina GAIIx	Phase_I	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1800	+	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	8.468	0.856952	0.17106	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.17370	2.32;2.31;2.28	2.75	0.897	0.19258	.	.	.	.	.	T	0.15046	0.0363	L	0.55481	1.735	0.09310	N	0.999996	B;B	0.24963	0.115;0.07	B;B	0.24155	0.051;0.023	T	0.29701	-1.0003	9	0.87932	D	0	.	4.0417	0.09755	0.0:0.6111:0.246:0.143	.	551;551	F5H0T8;Q9Y493	.;ZAN_HUMAN	N	551	ENSP00000445943:T551N;ENSP00000445091:T551N;ENSP00000444427:T551N	ENSP00000423579:T551N	T	+	2	0	ZAN	100187316	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.004000	0.12878	0.215000	0.20761	-0.156000	0.13503	ACT		0.463	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	48	1	0	2.0095e-06	1	2.25447e-06	6	48					A	100349380	C	A	100349380	1	1	48	0	1	0	0	0	0	0	0	0	17528	565	20	5		5	ZAN	7	100349380	RNA	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	146057	100349380	58789283	1997	6465										
ZAN	7455	broad.mit.edu	37	chr7	100350691	100350691	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaacccaccatccccacagAaaaacccaccattcccacag	2	19	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100350691A>C	ENST00000348028.3	+	0	3128				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATCCCCACAGAAAAACCCACC	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)							166	190	182					7																	100350691		1914	4123	6037			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350691A>C	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.100350691A>C			Somatic				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	WXS	Illumina GAIIx	Phase_I	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3111	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	A	11.62	1.691865	0.30052	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.70516	-0.49;-0.49;-0.49	3.46	2.15	0.27550	.	3.248640	0.01415	N	0.014145	T	0.77738	0.4175	L	0.61218	1.895	0.09310	N	0.999998	D;B	0.58268	0.982;0.361	P;B	0.57244	0.816;0.208	T	0.59118	-0.7514	10	0.26408	T	0.33	.	6.085	0.19962	0.7347:0.2653:0.0:0.0	.	988;988	F5H0T8;Q9Y493	.;ZAN_HUMAN	A	988	ENSP00000445943:E988A;ENSP00000445091:E988A;ENSP00000444427:E988A	ENSP00000423579:E988A	E	+	2	0	ZAN	100188627	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.398000	0.07259	1.538000	0.49270	0.533000	0.62120	GAA		0.572	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		80	134	0	0	0	1	0	80	134					C	100350691	A	C	100350691	1	2	48	0	1	0	0	0	0	0	0	0	17528	246	9	4		4	ZAN	7	100350691	RNA	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1311	100350691	58787972	1998	6466										
ZAN	7455	broad.mit.edu	37	chr7	100363120	100363120	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcttcgtcctcagtggcctCgagtgcatacctcgctccca	10	16	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100363120C>T	ENST00000348028.3	+	0	4578				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCAGTGGCCTCGAGTGCATAC	0.617																																						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)							44	47	46					7																	100363120		2109	4236	6345			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100363120C>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.100363120C>T			Somatic				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	WXS	Illumina GAIIx	Phase_I	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	4561	+	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																																																																																						0.617	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		10	13	0	0	0	1	0	10	13					T	100363120	C	T	100363120	1	4	48	0	1	0	0	0	0	0	0	0	17528	871	31	1		1	ZAN	7	100363120	RNA	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	12429	100363120	58775543	1999	6467										
ZAN	7455	broad.mit.edu	37	chr7	100366245	100366245	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctctagggaactacaacaAcaacagcttggatgacaacc	7	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100366245A>G	ENST00000348028.3	+	0	5219				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACTACAACAACAACAGCTTG	0.592																																						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)							32	31	31					7																	100366245		1881	4113	5994			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100366245A>G	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100366245A>G			Somatic				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	WXS	Illumina GAIIx	Phase_I	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5202	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	A	15.23	2.770966	0.49680	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	4.77	2.44	0.29823	von Willebrand factor, type D domain (3);	0.000000	0.49916	D	0.000127	T	0.50939	0.1645	L	0.35854	1.095	0.22001	N	0.999422	P;P	0.47034	0.865;0.889	P;P	0.50896	0.521;0.653	T	0.36114	-0.9761	10	0.46703	T	0.11	.	5.6478	0.17598	0.7864:0.0:0.2136:0.0	.	1685;1685	F5H0T8;Q9Y493	.;ZAN_HUMAN	S	1685;1685;1685;262	ENSP00000445943:N1685S;ENSP00000445091:N1685S;ENSP00000444427:N1685S;ENSP00000441117:N262S	ENSP00000423579:N1685S	N	+	2	0	ZAN	100204181	0.773000	0.28580	1.000000	0.80357	0.919000	0.55068	1.447000	0.35101	0.922000	0.37019	0.533000	0.62120	AAC		0.592	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		8	14	0	0	0	1	0	8	14					G	100366245	A	G	100366245	1	3	48	0	1	0	0	0	0	0	0	0	17528	43	2	4		4	ZAN	7	100366245	RNA	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	3125	100366245	58772418	2000	6468										
EPHB4	2050	broad.mit.edu	37	chr7	100401201	100401201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgccagagtgactccgattCggagcaggtccctgcagaag	13	13	0	3	rs373446670		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100401201C>T	ENST00000358173.3	-	17	3314	c.2846G>A	c.(2845-2847)cGa>cAa	p.R949Q	EPHB4_ENST00000360620.3_Missense_Mutation_p.R897Q	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	949	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GACTCCGATTCGGAGCAGGTC	0.607																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(2845-2847)cGa>cAa		EPH receptor B4		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	32	33	33		2846	4.6	1	7		33	0,8600		0,0,4300	no	missense	EPHB4	NM_004444.4	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	949/988	100401201	1,13005	2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100401201C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2846G>A	7.37:g.100401201C>T	ENSP00000350896:p.Arg949Gln		Somatic				EPHB4_ENST00000360620.3_Missense_Mutation_p.R897Q	p.R949Q	NM_004444.4	NP_004435.3	WXS	Illumina GAIIx	Phase_I	P54760	EPHB4_HUMAN			17	3314	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		949			SAM.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.2846G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873389	0.91664	2.27E-4	0.0	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.49139	0.79;0.79	4.64	4.64	0.57946	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.41294	D	0.000916	T	0.61776	0.2374	L	0.59436	1.845	0.42499	D	0.99292	D;D	0.76494	0.999;0.999	P;P	0.61397	0.888;0.888	T	0.66771	-0.5839	10	0.72032	D	0.01	.	15.0721	0.72046	0.0:1.0:0.0:0.0	.	897;949	Q96L35;P54760	.;EPHB4_HUMAN	Q	897;949	ENSP00000353833:R897Q;ENSP00000350896:R949Q	ENSP00000350896:R949Q	R	-	2	0	EPHB4	100239137	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.844000	0.62846	2.137000	0.66172	0.456000	0.33151	CGA		0.607	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		4	17	0	0	0	1	0	4	17					T	100401201	C	T	100401201	3	4	48	1	0	0	0	0	1	0	0	0	5179	884	31	1	121	1	EPHB4	7	100401201	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	34956	100401201	58737462	2001	6469										
MUC17	140453	broad.mit.edu	37	chr7	100674925	100674925	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtacaacatctacaaatgtCgtggagccaagaatgtattt	9	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100674925C>T	ENST00000306151.4	+	3	292	c.228C>T	c.(226-228)gtC>gtT	p.V76V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	76					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)					CTACAAATGTCGTGGAGCCAA	0.453																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(226-228)gtC>gtT		mucin 17, cell surface associated							101	94	97					7																	100674925		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100674925C>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.228C>T	7.37:g.100674925C>T			Somatic					p.V76V	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	292	+	Lung NSC(181;0.136)|all_lung(186;0.182)		76					O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.228C>T	CCDS34711.1																																																																																				0.453	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		37	54	0	0	0	1	0	37	54					T	100674925	C	T	100674925	2	4	48	1	0	0	0	0	0	0	0	1	9983	871	31	1		1	MUC17	7	100674925	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	273724	100674925	58463738	2002	6470										
MUC17	140453	broad.mit.edu	37	chr7	100685698	100685698	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacaccagcacacctgtgatCacttctacccaagtcagttc	6	15	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100685698C>A	ENST00000306151.4	+	3	11065	c.11001C>A	c.(10999-11001)atC>atA	p.I3667I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3667	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)					CACCTGTGATCACTTCTACCC	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.(10999-11001)atC>atA		mucin 17, cell surface associated							202	179	187					7																	100685698		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685698C>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.11001C>A	7.37:g.100685698C>A			Somatic					p.I3667I	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	11065	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3667			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.11001C>A	CCDS34711.1																																																																																				0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		84	150	1	0	1.59627e-33	1	2.29092e-33	84	150					A	100685698	C	A	100685698	2	1	48	1	0	0	0	0	0	0	0	1	9983	816	29	2		2	MUC17	7	100685698	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	10773	100685698	58452965	2003	6471										
MUC17	140453	broad.mit.edu	37	chr7	100695217	100695217	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtaacctcggcaagtgccaGatgtctctaagtggacctca	10	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100695217G>T	ENST00000306151.4	+	9	13141	c.13077G>T	c.(13075-13077)caG>caT	p.Q4359H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4359					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)					GCAAGTGCCAGATGTCTCTAA	0.597																																						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.(13075-13077)caG>caT		mucin 17, cell surface associated							190	167	174					7																	100695217		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100695217G>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.13077G>T	7.37:g.100695217G>T	ENSP00000302716:p.Gln4359His		Somatic					p.Q4359H	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			9	13141	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4359					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.13077G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	4.690	0.128324	0.08981	.	.	ENSG00000169876	ENST00000306151	T	0.49432	0.78	4.26	1.33	0.21861	.	.	.	.	.	T	0.58018	0.2093	M	0.65498	2.005	0.09310	N	1	D	0.58970	0.984	D	0.64506	0.926	T	0.43829	-0.9367	9	0.49607	T	0.09	.	4.418	0.11466	0.2119:0.1864:0.6018:0.0	.	4359	Q685J3	MUC17_HUMAN	H	4359	ENSP00000302716:Q4359H	ENSP00000302716:Q4359H	Q	+	3	2	MUC17	100481937	0.001000	0.12720	0.001000	0.08648	0.021000	0.10359	0.622000	0.24433	0.157000	0.19338	0.561000	0.74099	CAG		0.597	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		65	115	1	0	3.57465e-26	1	5.05666e-26	65	115					T	100695217	G	T	100695217	3	4	48	1	0	0	0	0	1	0	0	0	9983	933	33	2	13111	2	MUC17	7	100695217	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	9519	100695217	58443446	2004	6472										
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	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgcccgtgggcctcatcttCgtggtcttcaccatccactt	9	15	4	0	rs144660402		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:102087367C>T	ENST00000356387.2	+	4	868	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ORAI2_ENST00000403646.3_Silent_p.F211F|ORAI2_ENST00000478730.2_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Silent_p.F211F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	211						growth cone (GO:0030426)|integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						GCCTCATCTTCGTGGTCTTCA	0.667													C|||	1	0.000199681	0	0	5008	,	,		15618	0		0.001	False		,,,				2504	0					ENST00000356387.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(631-633)ttC>ttT		ORAI calcium release-activated calcium modulator 2		C	,	0,4406		0,0,2203	42	36	38		633,633	0.3	1	7	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ORAI2	NM_001126340.1,NM_032831.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	211/255,211/255	102087367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80228					integral to membrane	protein binding	g.chr7:102087367C>T	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"ORAI calcium release-activated calcium modulators"	21667	protein-coding gene	gene with protein product	"CAP-binding protein complex interacting protein 2"	610929	"chromosome 7 open reading frame 19", "transmembrane protein 142B"	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.633C>T	7.37:g.102087367C>T			Somatic				ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000403646.3_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000478730.1_Silent_p.F211F	p.F211F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	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		14	37	0	0	0	1	0	14	37					T	102087367	C	T	102087367	2	4	48	1	0	0	0	0	0	0	0	1	11267	883	31	1		1	ORAI2	7	102087367	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1392150	102087367	57051296	2005	6473										
MLL5	55904	broad.mit.edu	37	chr7	104746064	104746064	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cactcctaagcattatattaGatttacttcaccattccttt	2	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:104746064G>T	ENST00000311117.3	+	18	2920	c.2375G>T	c.(2374-2376)aGa>aTa	p.R792I	KMT2E_ENST00000334914.7_5'UTR|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000257745.4_Missense_Mutation_p.R792I|KMT2E_ENST00000334877.4_Missense_Mutation_p.R792I	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	792					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)	p.R792K(1)									CATTATATTAGATTTACTTCA	0.368																																						ENST00000334877.4																			1	Substitution - Missense(1)	p.R792K(1)	breast(1)								c.(2374-2376)aGa>aTa		lysine (K)-specific methyltransferase 2E							113	113	113					7																	104746064		2203	4300	6503	SO:0001583	missense	55904							g.chr7:104746064G>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2375G>T	7.37:g.104746064G>T	ENSP00000312379:p.Arg792Ile		Somatic				KMT2E_ENST00000257745.4_Missense_Mutation_p.R792I|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Missense_Mutation_p.R792I	p.R792I			WXS	Illumina GAIIx	Phase_I					18	2909	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.2375G>T	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093546	0.76756	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.94650	-3.48;-2.99;-3.48	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.96691	0.8920	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.96567	0.9420	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	792	Q8IZD2	MLL5_HUMAN	I	792;792;792;712;792	ENSP00000312379:R792I;ENSP00000335599:R792I;ENSP00000257745:R792I	ENSP00000257745:R792I	R	+	2	0	MLL5	104533300	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.198000	0.94994	2.873000	0.98535	0.563000	0.77884	AGA		0.368	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			11	82	1	0	0.0692343	1	0.0701576	11	82					T	104746064	G	T	104746064	3	4	48	1	0	0	0	0	1	0	0	0	9633	942	33	2	2437	2	MLL5	7	104746064	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2658697	104746064	54392599	2006	6474										
SRPK2	6733	broad.mit.edu	37	chr7	104801000	104801000	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtactgggaggccttgatagTtggatttgatgatccacttg	13	6	0	3	rs187516666		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:104801000T>G	ENST00000393651.3	-	7	662	c.575A>C	c.(574-576)aAc>aCc	p.N192T	SRPK2_ENST00000489828.1_Missense_Mutation_p.N181T|SRPK2_ENST00000357311.3_Missense_Mutation_p.N181T	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GCCTTGATAGTTGGATTTGAT	0.493																																						ENST00000357311.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(541-543)aAc>aCc		SRSF protein kinase 2							225	183	197					7																	104801000		2203	4300	6503	SO:0001583	missense	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104801000T>G	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.575A>C	7.37:g.104801000T>G	ENSP00000377262:p.Asn192Thr		Somatic				SRPK2_ENST00000393651.3_Missense_Mutation_p.N192T|SRPK2_ENST00000489828.1_Missense_Mutation_p.N181T	p.N181T	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	WXS	Illumina GAIIx	Phase_I	P78362	SRPK2_HUMAN			6	713	-			181			Protein kinase.			Missense_Mutation	SNP	ENST00000393651.3	37	c.542A>C	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.441002	0.83993	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828;ENST00000482897	T;T;T;T	0.24723	1.84;1.84;1.84;3.2	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051963	0.85682	D	0.000000	T	0.31420	0.0796	L	0.48218	1.51	0.80722	D	1	B;B	0.25390	0.125;0.066	B;B	0.34779	0.156;0.189	T	0.09037	-1.0693	10	0.72032	D	0.01	-22.2284	16.1708	0.81812	0.0:0.0:0.0:1.0	.	192;181	P78362-2;P78362	.;SRPK2_HUMAN	T	192;181;181;229	ENSP00000377262:N192T;ENSP00000349863:N181T;ENSP00000419791:N181T;ENSP00000419240:N229T	ENSP00000349863:N181T	N	-	2	0	SRPK2	104588236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.225000	0.72522	0.533000	0.62120	AAC		0.493	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		23	34	0	0	0	1	0	23	34					G	104801000	T	G	104801000	3	3	48	1	0	0	0	0	1	0	0	0	15175	1725	60	4	1564	4	SRPK2	7	104801000	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	54936	104801000	54337663	2007	6475										
CDHR3	222256	broad.mit.edu	37	chr7	105672986	105672986	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaagggatggggtcactgaGaagtgccaactgggaagaag	18	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:105672986G>A	ENST00000317716.9	+	19	2581	c.2501G>A	c.(2500-2502)aGa>aAa	p.R834K	CDHR3_ENST00000542731.1_Missense_Mutation_p.R834K|CDHR3_ENST00000478080.1_Missense_Mutation_p.R746K|CDHR3_ENST00000343407.5_3'UTR	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	834					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						GGGTCACTGAGAAGTGCCAAC	0.562																																						ENST00000542731.1																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.(2500-2502)aGa>aAa		cadherin-related family member 3							87	92	90					7																	105672986		2080	4233	6313	SO:0001583	missense	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105672986G>A	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.2501G>A	7.37:g.105672986G>A	ENSP00000325954:p.Arg834Lys		Somatic				CDHR3_ENST00000478080.1_Missense_Mutation_p.R746K|CDHR3_ENST00000317716.9_Missense_Mutation_p.R834K|CDHR3_ENST00000343407.5_3'UTR	p.R834K			WXS	Illumina GAIIx	Phase_I	Q6ZTQ4	CDHR3_HUMAN			19	2609	+			834					Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	c.2501G>A	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	G	9.233	1.036377	0.19669	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.54675	0.63;0.63;0.56	4.93	2.92	0.33932	.	0.830119	0.10651	N	0.649903	T	0.43765	0.1262	L	0.57536	1.79	0.09310	N	1	B;B	0.26318	0.146;0.146	B;B	0.22386	0.039;0.039	T	0.32534	-0.9903	9	.	.	.	-0.461	4.4017	0.11390	0.094:0.1558:0.5903:0.1599	.	821;834	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	K	834;834;746	ENSP00000439766:R834K;ENSP00000325954:R834K;ENSP00000417771:R746K	.	R	+	2	0	CDHR3	105460222	0.001000	0.12720	0.002000	0.10522	0.012000	0.07955	0.912000	0.28597	1.272000	0.44329	0.655000	0.94253	AGA		0.562	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		24	46	0	0	0	1	0	24	46					A	105672986	G	A	105672986	3	1	48	1	0	0	0	0	1	0	0	0	3122	942	33	3	2575	3	CDHR3	7	105672986	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	871986	105672986	53465677	2008	6476										
SLC26A4	5172	broad.mit.edu	37	chr7	107323664	107323664	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagacgctggttgagattttTcaaaatattggtgataccaa	9	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:107323664T>G	ENST00000265715.3	+	7	1007	c.783T>G	c.(781-783)ttT>ttG	p.F261L		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	261					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						TTGAGATTTTTCAAAATATTG	0.388									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	GRCh37	CI011710	SLC26A4	I		c.(781-783)ttT>ttG		solute carrier family 26 (anion exchanger), member 4							71	71	71					7																	107323664		2202	4300	6502	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.chr7:107323664T>G	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.783T>G	7.37:g.107323664T>G	ENSP00000265715:p.Phe261Leu		Somatic					p.F261L	NM_000441.1	NP_000432.1	WXS	Illumina GAIIx	Phase_I	O43511	S26A4_HUMAN			7	1007	+			261					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.783T>G	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.597671	0.28445	.	.	ENSG00000091137	ENST00000265715	D	0.92299	-3.01	5.35	1.75	0.24633	Sulphate transporter (1);	0.137437	0.51477	D	0.000093	D	0.91696	0.7375	L	0.49640	1.575	0.80722	D	1	D	0.64830	0.994	D	0.65323	0.934	D	0.87150	0.2208	10	0.08599	T	0.76	.	9.2261	0.37407	0.0:0.1982:0.0:0.8018	.	261	O43511	S26A4_HUMAN	L	261	ENSP00000265715:F261L	ENSP00000265715:F261L	F	+	3	2	SLC26A4	107110900	0.997000	0.39634	1.000000	0.80357	0.648000	0.38561	1.717000	0.37991	0.220000	0.20860	-0.250000	0.11733	TTT		0.388	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		15	26	0	0	0	1	0	15	26					G	107323664	T	G	107323664	3	3	48	1	0	0	0	0	1	0	0	0	14534	1780	62	4	805	4	SLC26A4	7	107323664	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1650678	107323664	51814999	2009	6477										
LAMB1	3912	broad.mit.edu	37	chr7	107635333	107635333	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaagtcatggatttcttaccTtgaaagtcattatgagatga	8	5	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:107635333T>G	ENST00000222399.6	-	5	652	c.422A>C	c.(421-423)aAg>aCg	p.K141T	LAMB1_ENST00000393560.1_Splice_Site_p.K141T|LAMB1_ENST00000393561.1_Splice_Site_p.K165T	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	141	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						ATTTCTTACCTTGAAAGTCAT	0.358																																						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.e3+1		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						102	98	99					7																	107635333		2203	4300	6503	SO:0001630	splice_region_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.chr7:107635333T>G	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.423+1A>C	7.37:g.107635333T>G			Somatic				LAMB1_ENST00000222399.6_Splice_Site_p.K141_splice|LAMB1_ENST00000393560.1_Splice_Site_p.K141_splice	p.K165_splice			WXS	Illumina GAIIx	Phase_I	P07942	LAMB1_HUMAN			3	678	-			141			Laminin N-terminal.		Q14D91	Splice_Site	SNP	ENST00000222399.6	37	c.495_splice	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.992335	0.93167	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.76186	-1.0;-1.0;-1.0	5.95	5.95	0.96441	Laminin, N-terminal (3);	.	.	.	.	D	0.87325	0.6149	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.998;0.988	D	0.89028	0.3440	9	0.87932	D	0	.	16.0971	0.81132	0.0:0.0:0.0:1.0	.	141;141;165	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	T	165;141;141	ENSP00000377191:K165T;ENSP00000222399:K141T;ENSP00000377190:K141T	ENSP00000222399:K141T	K	-	2	0	LAMB1	107422569	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	AAG		0.358	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291	Missense_Mutation	5	9	0	0	0	1	0	5	9					G	107635333	T	G	107635333	5	3	48	1	0	0	0	0	0	0	1	0	8619	1623	56	4	5058	4	LAMB1	7	107635333	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	311669	107635333	51503330	2010	6478										
NRCAM	4897	broad.mit.edu	37	chr7	107832197	107832197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacgctaagcacagcgctggCggagacgctgtccagagtgg	15	11	0	2	rs567322261		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:107832197C>T	ENST00000425651.2	-	15	1878	c.1879G>A	c.(1879-1881)Gcc>Acc	p.A627T	NRCAM_ENST00000413765.2_Missense_Mutation_p.A608T|NRCAM_ENST00000379028.3_Missense_Mutation_p.A627T|NRCAM_ENST00000379024.4_Missense_Mutation_p.A608T|NRCAM_ENST00000379022.4_Missense_Mutation_p.A627T|NRCAM_ENST00000351718.4_Missense_Mutation_p.A621T	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	627	Ig-like 6.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACAGCGCTGGCGGAGACGCTG	0.453													C|||	1	0.000199681	0	0	5008	,	,		16488	0		0	False		,,,				2504	0.001					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.(1879-1881)Gcc>Acc		neuronal cell adhesion molecule							93	75	81					7																	107832197		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.chr7:107832197C>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1879G>A	7.37:g.107832197C>T	ENSP00000401244:p.Ala627Thr		Somatic				NRCAM_ENST00000379022.4_Missense_Mutation_p.A627T|NRCAM_ENST00000351718.4_Missense_Mutation_p.A621T|NRCAM_ENST00000379024.4_Missense_Mutation_p.A608T|NRCAM_ENST00000425651.2_Missense_Mutation_p.A627T|NRCAM_ENST00000413765.2_Missense_Mutation_p.A608T	p.A627T			WXS	Illumina GAIIx	Phase_I	Q92823	NRCAM_HUMAN			18	2349	-			627			Ig-like 6.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.1879G>A	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	36	5.773673	0.96922	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.85	5.85	0.93711	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.097167	0.64402	D	0.000001	T	0.80834	0.4699	L	0.60067	1.865	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.953;0.999;0.954;0.923;0.984	T	0.80056	-0.1542	10	0.56958	D	0.05	.	20.1708	0.98159	0.0:1.0:0.0:0.0	.	627;608;608;621;627	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	T	627;627;608;627;621;608;627;627;621	ENSP00000368314:A627T;ENSP00000407858:A608T;ENSP00000325269:A621T;ENSP00000368310:A608T;ENSP00000401244:A627T;ENSP00000368308:A627T	ENSP00000325269:A621T	A	-	1	0	NRCAM	107619433	1.000000	0.71417	0.968000	0.41197	0.934000	0.57294	7.764000	0.85297	2.761000	0.94854	0.655000	0.94253	GCC		0.453	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		12	31	0	0	0	1	0	12	31					T	107832197	C	T	107832197	3	4	48	1	0	0	0	0	1	0	0	0	10653	768	27	1	2129	1	NRCAM	7	107832197	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	196864	107832197	51306466	2011	6479										
DNAJB9	4189	broad.mit.edu	37	chr7	108212299	108212299	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcatcagagcgccaaatcaaGaaggcctttcacaagttggc	10	11	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:108212299G>T	ENST00000249356.3	+	2	675	c.129G>T	c.(127-129)aaG>aaT	p.K43N	THAP5_ENST00000313516.5_5'Flank|THAP5_ENST00000493722.1_5'Flank|THAP5_ENST00000438865.1_5'Flank|THAP5_ENST00000415914.3_5'Flank|DNAJB9_ENST00000465725.1_3'UTR	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	43	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						GCCAAATCAAGAAGGCCTTTC	0.398																																						ENST00000249356.3																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(127-129)aaG>aaT		DnaJ (Hsp40) homolog, subfamily B, member 9							105	114	111					7																	108212299		2203	4300	6503	SO:0001583	missense	4189				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding	g.chr7:108212299G>T	AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"Heat shock proteins / DNAJ (HSP40)"	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.129G>T	7.37:g.108212299G>T	ENSP00000249356:p.Lys43Asn		Somatic				DNAJB9_ENST00000465725.1_3'UTR	p.K43N	NM_012328.2	NP_036460.1	WXS	Illumina GAIIx	Phase_I	Q9UBS3	DNJB9_HUMAN			2	675	+			43			J.			Missense_Mutation	SNP	ENST00000249356.3	37	c.129G>T	CCDS5752.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100798	0.76983	.	.	ENSG00000128590	ENST00000249356	T	0.81078	-1.45	5.34	4.45	0.53987	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	D	0.89283	0.6671	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89217	0.3568	9	.	.	.	.	8.6756	0.34176	0.1739:0.0:0.826:0.0	.	43	Q9UBS3	DNJB9_HUMAN	N	43	ENSP00000249356:K43N	.	K	+	3	2	DNAJB9	107999535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.281000	0.51685	1.212000	0.43366	0.563000	0.77884	AAG		0.398	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337414.1			46	87	1	0	8.86878e-18	1	1.19361e-17	46	87					T	108212299	G	T	108212299	3	4	48	1	0	0	0	0	1	0	0	0	4629	933	33	2	131	2	DNAJB9	7	108212299	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	380102	108212299	50926364	2012	6480										
DOCK4	9732	broad.mit.edu	37	chr7	111418353	111418353	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtaaagttctgtgctttgaGatgcagatcatagagtttgt	11	4	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:111418353G>T	ENST00000437633.1	-	35	3887	c.3631C>A	c.(3631-3633)Ctc>Atc	p.L1211I	DOCK4_ENST00000494651.2_Missense_Mutation_p.L94I|DOCK4_ENST00000428084.1_Missense_Mutation_p.L1220I	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1211	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGTGCTTTGAGATGCAGATCA	0.368																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(3658-3660)Ctc>Atc		dedicator of cytokinesis 4							178	167	170					7																	111418353		1862	4101	5963	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.chr7:111418353G>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3631C>A	7.37:g.111418353G>T	ENSP00000404179:p.Leu1211Ile		Somatic				DOCK4_ENST00000437633.1_Missense_Mutation_p.L1211I|DOCK4_ENST00000494651.2_Missense_Mutation_p.L94I	p.L1220I			WXS	Illumina GAIIx	Phase_I	Q8N1I0	DOCK4_HUMAN			36	3930	-		Acute lymphoblastic leukemia(1;0.0441)	1211			DHR-2.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.3658C>A	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579908	0.65992	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288;ENST00000437129;ENST00000450156;ENST00000417165	T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53	5.78	3.97	0.46021	.	0.316889	0.32273	N	0.006322	T	0.52549	0.1741	M	0.62723	1.935	0.46586	D	0.999119	P;P;P;P;P	0.50943	0.85;0.624;0.85;0.94;0.907	B;P;P;P;P	0.49561	0.41;0.46;0.507;0.611;0.615	T	0.54918	-0.8221	10	0.72032	D	0.01	.	4.031	0.09710	0.1376:0.1369:0.5961:0.1293	.	118;94;1256;1211;1220	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2	.;.;.;DOCK4_HUMAN;.	I	1199;1220;94;1211;1208;85;94;118	ENSP00000410746:L1220I;ENSP00000440944:L94I;ENSP00000404179:L1211I;ENSP00000406298:L85I;ENSP00000406468:L94I;ENSP00000403504:L118I	ENSP00000345432:L1208I	L	-	1	0	DOCK4	111205589	0.999000	0.42202	0.997000	0.53966	0.997000	0.91878	2.282000	0.43461	0.892000	0.36259	0.655000	0.94253	CTC		0.368	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		21	41	1	0	7.87624e-14	1	1.01695e-13	21	41					T	111418353	G	T	111418353	3	4	48	1	0	0	0	0	1	0	0	0	4691	942	33	2	2341	2	DOCK4	7	111418353	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3206054	111418353	47720310	2013	6481										
DOCK4	9732	broad.mit.edu	37	chr7	111541793	111541793	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acttccacatttctggccacGctcttccctcctttctcaaa	3	17	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:111541793G>A	ENST00000437633.1	-	14	1513	c.1257C>T	c.(1255-1257)agC>agT	p.S419S	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Silent_p.S419S	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	419	DHR-1.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTCTGGCCACGCTCTTCCCTC	0.363																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(1255-1257)agC>agT		dedicator of cytokinesis 4							87	81	83					7																	111541793		1859	4097	5956	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111541793G>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.1257C>T	7.37:g.111541793G>A			Somatic				DOCK4_ENST00000437633.1_Silent_p.S419S|DOCK4_ENST00000476846.1_5'UTR	p.S419S			WXS	Illumina GAIIx	Phase_I	Q8N1I0	DOCK4_HUMAN			14	1529	-		Acute lymphoblastic leukemia(1;0.0441)	419			DHR-1.		O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.1257C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	7.610	0.674638	0.14841	.	.	ENSG00000128512	ENST00000445943	.	.	.	5.86	-4.43	0.03568	.	.	.	.	.	T	0.66982	0.2845	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68044	-0.5513	4	.	.	.	.	17.8095	0.88611	0.8308:0.0:0.1692:0.0	.	.	.	.	V	407	.	.	A	-	2	0	DOCK4	111329029	0.592000	0.26832	0.949000	0.38748	0.653000	0.38743	-0.124000	0.10595	-0.769000	0.04620	-0.781000	0.03364	GCG		0.363	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		8	25	0	0	0	1	0	8	25					A	111541793	G	A	111541793	2	1	48	1	0	0	0	0	0	0	0	1	4691	1078	38	1		1	DOCK4	7	111541793	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	123440	111541793	47596870	2014	6482										
DOCK4	9732	broad.mit.edu	37	chr7	111584871	111584871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagtgttatacctaccgattCggataatgtgcacggtgata	10	7	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:111584871C>T	ENST00000437633.1	-	10	1095	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.R280Q	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	280					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCTACCGATTCGGATAATGTG	0.418																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(838-840)cGa>cAa		dedicator of cytokinesis 4							128	122	124					7																	111584871		1912	4125	6037	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.chr7:111584871C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.839G>A	7.37:g.111584871C>T	ENSP00000404179:p.Arg280Gln		Somatic				DOCK4_ENST00000437633.1_Missense_Mutation_p.R280Q|DOCK4_ENST00000476846.1_5'UTR	p.R280Q			WXS	Illumina GAIIx	Phase_I	Q8N1I0	DOCK4_HUMAN			10	1111	-		Acute lymphoblastic leukemia(1;0.0441)	280					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.839G>A	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.504238|5.504238	0.96371|0.96371	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.11712	.|2.75;2.77	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.40398|0.40398	0.1115|0.1115	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.999;0.999	T|T	0.21280|0.21280	-1.0250|-1.0250	5|10	.|0.87932	.|D	.|0	.|.	20.2406|20.2406	0.98372|0.98372	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|280;280;280	.|A4D0S8;Q149N5;Q8N1I0	.|.;.;DOCK4_HUMAN	K|Q	268|268;280;280;268;279	.|ENSP00000410746:R280Q;ENSP00000404179:R280Q	.|ENSP00000345432:R268Q	E|R	-|-	1|2	0|0	DOCK4|DOCK4	111372107|111372107	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.865000|0.865000	0.49528|0.49528	6.730000|6.730000	0.74780|0.74780	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.418	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		6	24	0	0	0	1	0	6	24					T	111584871	C	T	111584871	3	4	48	1	0	0	0	0	1	0	0	0	4691	884	31	1	5233	1	DOCK4	7	111584871	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	43078	111584871	47553792	2015	6483										
ZNF277	11179	broad.mit.edu	37	chr7	111976201	111976201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagttcagttggaagatgatCgggagttgctggaccatcag	14	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:111976201C>T	ENST00000361822.3	+	8	973	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	AC004112.4_ENST00000431064.1_RNA|AC004112.4_ENST00000411413.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	282					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGAAGATGATCGGGAGTTGCT	0.413																																						ENST00000361822.3																			0				breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(844-846)Cgg>Tgg		zinc finger protein 277							195	184	187					7																	111976201		2203	4300	6503	SO:0001583	missense	11179					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:111976201C>T	AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"zinc finger protein (C2H2 type) 277", "zinc finger protein 277 pseudogene"	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.844C>T	7.37:g.111976201C>T	ENSP00000354501:p.Arg282Trp		Somatic				AC004112.4_ENST00000431064.1_RNA	p.R282W	NM_021994.2	NP_068834.2	WXS	Illumina GAIIx	Phase_I	Q9NRM2	ZN277_HUMAN			8	973	+			282					Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	ENST00000361822.3	37	c.844C>T	CCDS5755.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278623	0.80692	.	.	ENSG00000198839	ENST00000361822;ENST00000425229	T	0.33216	1.42	5.18	4.29	0.51040	.	0.124293	0.56097	D	0.000036	T	0.31263	0.0791	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.49421	0.61	T	0.11084	-1.0602	10	0.62326	D	0.03	-1.0566	15.6408	0.77001	0.0:0.862:0.138:0.0	.	282	Q9NRM2	ZN277_HUMAN	W	282;194	ENSP00000354501:R282W	ENSP00000354501:R282W	R	+	1	2	ZNF277	111763437	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	3.765000	0.55272	1.148000	0.42385	0.591000	0.81541	CGG		0.413	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994		13	39	0	0	0	1	0	13	39					T	111976201	C	T	111976201	3	4	48	1	0	0	0	0	1	0	0	0	17827	875	31	1	874	1	ZNF277	7	111976201	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	391330	111976201	47162462	2016	6484										
C7orf60	154743	broad.mit.edu	37	chr7	112461939	112461939	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcatcttctatatctgatcGaacatagcaggaagggttag	9	7	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:112461939G>A	ENST00000297145.4	-	5	1243	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	360							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						atatctGATCGAACATAGCAG	0.398																																						ENST00000297145.4																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(1078-1080)Cga>Tga		chromosome 7 open reading frame 60							49	48	48					7																	112461939		1845	4089	5934	SO:0001587	stop_gained	154743							g.chr7:112461939G>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.1078C>T	7.37:g.112461939G>A	ENSP00000297145:p.Arg360*		Somatic					p.R360*	NM_152556.2	NP_689769.2	WXS	Illumina GAIIx	Phase_I	Q1RMZ1	CG060_HUMAN			5	1243	-			360					Q8N3D0|Q96MV7	Nonsense_Mutation	SNP	ENST00000297145.4	37	c.1078C>T	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771003	0.69992	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5788	20.1197	0.97955	0.0:0.0:1.0:0.0	.	.	.	.	X	360;342;307	.	ENSP00000297145:R360X	R	-	1	2	C7orf60	112249175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.605000	0.98321	2.747000	0.94245	0.585000	0.79938	CGA		0.398	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		9	32	0	0	0	1	0	9	32					A	112461939	G	A	112461939	4	1	48	1	0	0	0	0	0	1	0	0	2409	1066	37	1	143	1	C7orf60	7	112461939	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	485738	112461939	46676724	2017	6485										
GPR85	54329	broad.mit.edu	37	chr7	112724250	112724250	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattagccctgaaggagcggTgttggaaggtgcattgatct	14	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:112724250T>C	ENST00000297146.3	-	3	1130	c.527A>G	c.(526-528)cAc>cGc	p.H176R	GPR85_ENST00000449591.1_Missense_Mutation_p.H176R|GPR85_ENST00000424100.1_Missense_Mutation_p.H176R|GPR85_ENST00000501255.2_Missense_Mutation_p.H176R|GPR85_ENST00000487573.1_5'Flank	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	176					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GAAGGAGCGGTGTTGGAAGGT	0.483																																						ENST00000501255.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(526-528)cAc>cGc		G protein-coupled receptor 85							84	77	79					7																	112724250		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:112724250T>C	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"GPCR / Class A : Orphans"	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.527A>G	7.37:g.112724250T>C	ENSP00000297146:p.His176Arg		Somatic				GPR85_ENST00000424100.1_Missense_Mutation_p.H176R|GPR85_ENST00000297146.2_Missense_Mutation_p.H176R|GPR85_ENST00000449591.1_Missense_Mutation_p.H176R	p.H176R	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	WXS	Illumina GAIIx	Phase_I	P60893	GPR85_HUMAN			3	1150	-			176					Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	c.527A>G	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.976512	0.53720	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	L	0.61218	1.895	0.80722	D	1	B	0.32382	0.368	B	0.39152	0.292	T	0.31392	-0.9945	10	0.36615	T	0.2	.	15.7378	0.77859	0.0:0.0:0.0:1.0	.	176	P60893	GPR85_HUMAN	R	176	ENSP00000445808:H176R;ENSP00000297146:H176R;ENSP00000396763:H176R;ENSP00000401178:H176R	ENSP00000297146:H176R	H	-	2	0	GPR85	112511486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.185000	0.69588	0.528000	0.53228	CAC		0.483	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			20	52	0	0	0	1	0	20	52					C	112724250	T	C	112724250	3	2	48	1	0	0	0	0	1	0	0	0	6723	1696	59	4	589	4	GPR85	7	112724250	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	262311	112724250	46414413	2018	6486										
PPP1R3A	5506	broad.mit.edu	37	chr7	113519003	113519003	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taatgccatgatcagctagaGaagacagttcacagcacact	8	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:113519003G>T	ENST00000284601.3	-	4	2212	c.2144C>A	c.(2143-2145)tCt>tAt	p.S715Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	715					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						ATCAGCTAGAGAAGACAGTTC	0.408																																						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.(2143-2145)tCt>tAt		protein phosphatase 1, regulatory subunit 3A							199	192	195					7																	113519003		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519003G>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.2144C>A	7.37:g.113519003G>T	ENSP00000284601:p.Ser715Tyr		Somatic					p.S715Y	NM_002711.3	NP_002702.2	WXS	Illumina GAIIx	Phase_I	Q16821	PPR3A_HUMAN			4	2212	-			715					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2144C>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593180	0.46214	.	.	ENSG00000154415	ENST00000284601	T	0.32023	1.47	5.81	4.93	0.64822	.	0.091252	0.48767	D	0.000165	T	0.52451	0.1735	M	0.68952	2.095	0.38236	D	0.941186	D	0.76494	0.999	D	0.65573	0.936	T	0.61729	-0.7003	10	0.87932	D	0	-5.6568	15.0609	0.71951	0.0681:0.0:0.9319:0.0	.	715	Q16821	PPR3A_HUMAN	Y	715	ENSP00000284601:S715Y	ENSP00000284601:S715Y	S	-	2	0	PPP1R3A	113306239	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	6.374000	0.73132	1.469000	0.48083	-0.157000	0.13467	TCT		0.408	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		37	84	1	0	1.21669e-08	1	1.44061e-08	37	84					T	113519003	G	T	113519003	3	4	48	1	0	0	0	0	1	0	0	0	12383	942	33	2	1228	2	PPP1R3A	7	113519003	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	794753	113519003	45619660	2019	6487										
PPP1R3A	5506	broad.mit.edu	37	chr7	113519436	113519436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gattgcccgggtggggattgCggtatgttcgctcagcagag	17	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:113519436C>T	ENST00000284601.3	-	4	1779	c.1711G>A	c.(1711-1713)Gca>Aca	p.A571T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	571					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.A571T(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						GTGGGGATTGCGGTATGTTCG	0.473																																						ENST00000284601.3																			1	Substitution - Missense(1)	p.A571T(1)	endometrium(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.(1711-1713)Gca>Aca		protein phosphatase 1, regulatory subunit 3A							119	111	114					7																	113519436		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519436C>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.1711G>A	7.37:g.113519436C>T	ENSP00000284601:p.Ala571Thr		Somatic					p.A571T	NM_002711.3	NP_002702.2	WXS	Illumina GAIIx	Phase_I	Q16821	PPR3A_HUMAN			4	1779	-			571					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1711G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	0.872	-0.731587	0.03135	.	.	ENSG00000154415	ENST00000284601	T	0.14893	2.47	5.69	-11.4	0.00090	.	1.150750	0.06242	N	0.690535	T	0.02649	0.0080	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18555	-1.0333	10	0.02654	T	1	-0.608	1.0004	0.01475	0.3109:0.2832:0.2229:0.1831	.	571	Q16821	PPR3A_HUMAN	T	571	ENSP00000284601:A571T	ENSP00000284601:A571T	A	-	1	0	PPP1R3A	113306672	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.806000	0.00183	-2.651000	0.00424	-2.136000	0.00340	GCA		0.473	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		37	50	0	0	0	1	0	37	50					T	113519436	C	T	113519436	3	4	48	1	0	0	0	0	1	0	0	0	12383	768	27	1	1661	1	PPP1R3A	7	113519436	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	433	113519436	45619227	2020	6488										
FOXP2	93986	broad.mit.edu	37	chr7	114282503	114282503	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agattcagcagttatggaaaGaagtgactggagttcacagt	12	5	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:114282503G>T	ENST00000393494.2	+	7	1093	c.814G>T	c.(814-816)Gaa>Taa	p.E272*	FOXP2_ENST00000393500.3_Nonsense_Mutation_p.E197*|FOXP2_ENST00000360232.4_Nonsense_Mutation_p.E272*|FOXP2_ENST00000390668.3_Nonsense_Mutation_p.E296*|FOXP2_ENST00000393491.3_Nonsense_Mutation_p.E180*|FOXP2_ENST00000408937.3_Nonsense_Mutation_p.E297*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.E251*|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.E289*|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.E180*|FOXP2_ENST00000378237.3_Nonsense_Mutation_p.E272*|FOXP2_ENST00000350908.4_Nonsense_Mutation_p.E272*			O15409	FOXP2_HUMAN	forkhead box P2	272					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						GTTATGGAAAGAAGTGACTGG	0.408																																						ENST00000393500.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(589-591)Gaa>Taa		forkhead box P2							145	135	138					7																	114282503		2203	4300	6503	SO:0001587	stop_gained	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.chr7:114282503G>T	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.814G>T	7.37:g.114282503G>T	ENSP00000377132:p.Glu272*		Somatic				FOXP2_ENST00000393491.3_Nonsense_Mutation_p.E180*|FOXP2_ENST00000350908.4_Nonsense_Mutation_p.E272*|FOXP2_ENST00000360232.4_Nonsense_Mutation_p.E272*|FOXP2_ENST00000393494.2_Nonsense_Mutation_p.E272*|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.E289*|FOXP2_ENST00000390668.3_Nonsense_Mutation_p.E296*|FOXP2_ENST00000378237.3_Nonsense_Mutation_p.E272*|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.E180*|FOXP2_ENST00000408937.3_Nonsense_Mutation_p.E297*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.E251*	p.E197*			WXS	Illumina GAIIx	Phase_I	O15409	FOXP2_HUMAN			13	1409	+			272			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Nonsense_Mutation	SNP	ENST00000393494.2	37	c.589G>T	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808152	0.90707	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000393489;ENST00000360232;ENST00000393495;ENST00000390668;ENST00000393491	.	.	.	4.86	4.86	0.63082	.	0.135777	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.3604	0.90372	0.0:0.0:1.0:0.0	.	.	.	.	X	197;272;297;289;272;249;272;180;272;129;296;180	.	ENSP00000265436:E272X	E	+	1	0	FOXP2	114069739	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.416000	0.97383	2.410000	0.81850	0.460000	0.39030	GAA		0.408	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		23	32	1	0	8.04996e-18	1	1.08523e-17	23	32					T	114282503	G	T	114282503	4	4	48	1	0	0	0	0	0	1	0	0	6035	943	33	2	970	2	FOXP2	7	114282503	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	763067	114282503	44856160	2021	6489										
CAV2	858	broad.mit.edu	37	chr7	116140470	116140470	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggccttcattgcgggaattCtctttgccaccctcagctgt	9	13	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:116140470C>A	ENST00000222693.4	+	2	699	c.307C>A	c.(307-309)Ctc>Atc	p.L103I	AC002066.1_ENST00000446355.2_RNA|CAV2_ENST00000393480.2_Missense_Mutation_p.L103I|CAV2_ENST00000462876.1_3'UTR|CAV2_ENST00000343213.2_Intron	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	103					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)	p.L103F(1)		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)			TGCGGGAATTCTCTTTGCCAC	0.552																																						ENST00000222693.4																			1	Substitution - Missense(1)	p.L103F(1)	large_intestine(1)	large_intestine(1)|lung(1)|skin(1)	3						c.(307-309)Ctc>Atc		caveolin 2							159	137	144					7																	116140470		2203	4300	6503	SO:0001583	missense	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.chr7:116140470C>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.307C>A	7.37:g.116140470C>A	ENSP00000222693:p.Leu103Ile		Somatic				CAV2_ENST00000393480.2_Missense_Mutation_p.L103I|CAV2_ENST00000343213.2_Intron|CAV2_ENST00000462876.1_3'UTR	p.L103I	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	WXS	Illumina GAIIx	Phase_I	P51636	CAV2_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		2	699	+	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		103					A4D0U2|Q9UGM7	Missense_Mutation	SNP	ENST00000222693.4	37	c.307C>A	CCDS5766.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997301	0.54147	.	.	ENSG00000105971	ENST00000222693;ENST00000393480	D;D	0.93019	-3.15;-3.15	5.02	3.04	0.35103	.	0.389459	0.28688	N	0.014475	D	0.90031	0.6887	L	0.51422	1.61	0.42626	D	0.993364	B	0.16166	0.016	B	0.22880	0.042	D	0.86770	0.1972	10	0.40728	T	0.16	-14.1546	11.4258	0.50009	0.1183:0.6633:0.2185:0.0	.	103	P51636	CAV2_HUMAN	I	103	ENSP00000222693:L103I;ENSP00000377120:L103I	ENSP00000222693:L103I	L	+	1	0	CAV2	115927706	0.284000	0.24287	0.919000	0.36401	0.969000	0.65631	0.201000	0.17276	1.208000	0.43306	0.563000	0.77884	CTC		0.552	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059735.4	NM_001233		26	62	1	0	7.76418e-22	1	1.07612e-21	26	62					A	116140470	C	A	116140470	3	1	48	1	0	0	0	0	1	0	0	0	2696	913	32	2	313	2	CAV2	7	116140470	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1857967	116140470	42998193	2022	6490										
MET	4233	broad.mit.edu	37	chr7	116371750	116371750	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagaaattcatcaggctgtgAagcgcgccgtgatgaatatc	12	8	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:116371750A>G	ENST00000318493.6	+	3	1416	c.1229A>G	c.(1228-1230)gAa>gGa	p.E410G	MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Missense_Mutation_p.E410G|MET_ENST00000397752.3_Missense_Mutation_p.E410G			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)			TCAGGCTGTGAAGCGCGCCGT	0.418			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.(1228-1230)gAa>gGa		met proto-oncogene							95	86	89					7																	116371750		1872	4092	5964	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116371750A>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.1229A>G	7.37:g.116371750A>G	ENSP00000317272:p.Glu410Gly		Somatic				MET_ENST00000318493.6_Missense_Mutation_p.E410G|MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Missense_Mutation_p.E410G	p.E410G	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)		3	1429	+	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)	410			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.1229A>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	A	11.16	1.556124	0.27827	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.11169	2.8;2.8;2.8	5.44	5.44	0.79542	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.423361	0.28583	N	0.014832	T	0.09024	0.0223	L	0.39245	1.2	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B	0.14805	0.005;0.003;0.011;0.003;0.003;0.003;0.006;0.003;0.001;0.006;0.004	B;B;B;B;B;B;B;B;B;B;B	0.19666	0.011;0.026;0.015;0.015;0.015;0.015;0.015;0.015;0.005;0.009;0.009	T	0.21177	-1.0253	10	0.41790	T	0.15	.	4.6172	0.12432	0.6893:0.1925:0.1182:0.0	.	410;410;410;410;410;410;410;410;410;410;410	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;P08581-2;B5A942;P08581	.;.;.;.;.;.;.;.;.;.;MET_HUMAN	G	410	ENSP00000380860:E410G;ENSP00000317272:E410G;ENSP00000410980:E410G	ENSP00000317272:E410G	E	+	2	0	MET	116158986	1.000000	0.71417	0.999000	0.59377	0.675000	0.39556	3.322000	0.52007	2.052000	0.61016	0.533000	0.62120	GAA		0.418	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			16	27	0	0	0	1	0	16	27					G	116371750	A	G	116371750	3	3	48	1	0	0	0	0	1	0	0	0	9494	246	9	4	1235	4	MET	7	116371750	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	231280	116371750	42766913	2023	6491										
ASZ1	136991	broad.mit.edu	37	chr7	117024855	117024855	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtagcattttattagctccAagttcaagcaacttcaaaac	5	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:117024855A>G	ENST00000284629.2	-	6	674	c.612T>C	c.(610-612)ctT>ctC	p.L204L		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TATTAGCTCCAAGTTCAAGCA	0.368																																						ENST00000284629.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(610-612)ctT>ctC		ankyrin repeat, SAM and basic leucine zipper domain containing 1							154	139	144					7																	117024855		2203	4300	6503	SO:0001819	synonymous_variant	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117024855A>G	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	1350	protein-coding gene	gene with protein product		605797	"ankyrin-like 1"	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.612T>C	7.37:g.117024855A>G			Somatic					p.L204L	NM_130768.2	NP_570124.1	WXS	Illumina GAIIx	Phase_I	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		6	674	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		204						Silent	SNP	ENST00000284629.2	37	c.612T>C	CCDS5772.1																																																																																				0.368	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		22	46	0	0	0	1	0	22	46					G	117024855	A	G	117024855	2	3	48	1	0	0	0	0	0	0	0	1	1069	117	5	4		4	ASZ1	7	117024855	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	653105	117024855	42113808	2024	6492										
CFTR	1080	broad.mit.edu	37	chr7	117230480	117230480	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagatgttttaacagaaaaaGaaatatttgaaaggtatgtt	8	1	0	4	rs397508296		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:117230480G>T	ENST00000003084.6	+	13	1885	c.1753G>T	c.(1753-1755)Gaa>Taa	p.E585*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.E524*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	585	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AACAGAAAAAGAAATATTTGA	0.289									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	GRCh37	CM920165	CFTR	M		c.(1753-1755)Gaa>Taa		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						65	74	71					7																	117230480		2200	4292	6492	SO:0001587	stop_gained	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117230480G>T	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1753G>T	7.37:g.117230480G>T	ENSP00000003084:p.Glu585*		Somatic				CFTR_ENST00000454343.1_Nonsense_Mutation_p.E524*	p.E585*	NM_000492.3	NP_000483.3	WXS	Illumina GAIIx	Phase_I	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		13	1885	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		585			ABC transporter 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Nonsense_Mutation	SNP	ENST00000003084.6	37	c.1753G>T	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	37	6.599631	0.97697	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	.	.	.	4.83	3.82	0.43975	.	0.095252	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-11.4584	14.3803	0.66907	0.0:0.2285:0.7715:0.0	.	.	.	.	X	585;524;555	.	ENSP00000003084:E585X	E	+	1	0	CFTR	117017716	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.951000	0.70273	0.876000	0.35872	0.563000	0.77884	GAA		0.289	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		16	24	1	0	0.000422831	1	0.000449533	16	24					T	117230480	G	T	117230480	4	4	48	1	0	0	0	0	0	1	0	0	3296	943	33	2	1803	2	CFTR	7	117230480	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	205625	117230480	41908183	2025	6493										
CTTNBP2	83992	broad.mit.edu	37	chr7	117417761	117417761	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtattctatggtacataagaAgcttgaggctgtccacatta	9	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:117417761A>C	ENST00000160373.3	-	8	2673	c.2582T>G	c.(2581-2583)cTt>cGt	p.L861R		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	861					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)		GTACATAAGAAGCTTGAGGCT	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.(2581-2583)cTt>cGt		cortactin binding protein 2							71	73	72					7																	117417761		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117417761A>C		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.2582T>G	7.37:g.117417761A>C	ENSP00000160373:p.Leu861Arg		Somatic					p.L861R	NM_033427.2	NP_219499.1	WXS	Illumina GAIIx	Phase_I	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	8	2673	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		861					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.2582T>G	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	A	19.02	3.745532	0.69418	.	.	ENSG00000077063	ENST00000160373	T	0.58060	0.36	5.46	5.46	0.80206	Ankyrin repeat-containing domain (3);	0.108661	0.64402	D	0.000005	T	0.65396	0.2687	L	0.50993	1.605	0.50467	D	0.999871	D	0.89917	1.0	D	0.76575	0.988	T	0.67825	-0.5570	10	0.72032	D	0.01	-10.0852	11.5676	0.50815	0.8663:0.0:0.0:0.1336	.	861	Q8WZ74	CTTB2_HUMAN	R	861	ENSP00000160373:L861R	ENSP00000160373:L861R	L	-	2	0	CTTNBP2	117204997	1.000000	0.71417	0.963000	0.40424	0.880000	0.50808	6.389000	0.73199	2.197000	0.70478	0.528000	0.53228	CTT		0.458	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		22	43	0	0	0	1	0	22	43					C	117417761	A	C	117417761	3	2	48	1	0	0	0	0	1	0	0	0	4047	72	3	4	2473	4	CTTNBP2	7	117417761	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	187281	117417761	41720902	2026	6494										
KCND2	3751	broad.mit.edu	37	chr7	119914842	119914842	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatgtgagtggcacccgcttCcagacgtggcaggacaccct	12	13	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:119914842C>T	ENST00000331113.4	+	1	1121	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	52					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GCACCCGCTTCCAGACGTGGC	0.567																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(154-156)ttC>ttT		potassium voltage-gated channel, Shal-related subfamily, member 2							129	137	134					7																	119914842		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914842C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.156C>T	7.37:g.119914842C>T			Somatic					p.F52F	NM_012281.2	NP_036413.1	WXS	Illumina GAIIx	Phase_I	Q9NZV8	KCND2_HUMAN			1	1121	+	all_neural(327;0.117)		52					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.156C>T	CCDS5776.1																																																																																				0.567	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		93	184	0	0	0	1	0	93	184					T	119914842	C	T	119914842	2	4	48	1	0	0	0	0	0	0	0	1	8028	854	30	3		3	KCND2	7	119914842	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2497081	119914842	39223821	2027	6495										
C7orf58	79974	broad.mit.edu	37	chr7	120876773	120876773	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attattttaatgcaggattgTggtttgctgattcatccaga	9	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:120876773T>C	ENST00000310396.5	+	17	2528	c.2061T>C	c.(2059-2061)tgT>tgC	p.C687C	CPED1_ENST00000450913.2_Silent_p.C687C|CPED1_ENST00000423795.1_Silent_p.C467C	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	687						endoplasmic reticulum (GO:0005783)											TGCAGGATTGTGGTTTGCTGA	0.318																																						ENST00000310396.5																			0											c.(2059-2061)tgT>tgC		cadherin-like and PC-esterase domain containing 1							95	95	95					7																	120876773		2203	4300	6503	SO:0001819	synonymous_variant	79974							g.chr7:120876773T>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.2061T>C	7.37:g.120876773T>C			Somatic				CPED1_ENST00000450913.2_Silent_p.C687C|CPED1_ENST00000423795.1_Silent_p.C467C	p.C687C	NM_024913.4	NP_079189.4	WXS	Illumina GAIIx	Phase_I					17	2528	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	37	c.2061T>C	CCDS34739.1																																																																																				0.318	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		15	51	0	0	0	1	0	15	51					C	120876773	T	C	120876773	2	2	48	1	0	0	0	0	0	0	0	1	2407	1702	59	4		4	C7orf58	7	120876773	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	961931	120876773	38261890	2028	6496										
C7orf58	79974	broad.mit.edu	37	chr7	120884286	120884286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgccttgccttagttgttCggacaacaggacgtgtgact	12	9	0	1	rs148996529	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:120884286C>T	ENST00000310396.5	+	18	2671	c.2204C>T	c.(2203-2205)tCg>tTg	p.S735L	CPED1_ENST00000450913.2_Missense_Mutation_p.S735L|CPED1_ENST00000423795.1_Missense_Mutation_p.S515L	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	735						endoplasmic reticulum (GO:0005783)		p.S735L(1)									CTTAGTTGTTCGGACAACAGG	0.468																																						ENST00000310396.5																			1	Substitution - Missense(1)	p.S735L(1)	large_intestine(1)								c.(2203-2205)tCg>tTg		cadherin-like and PC-esterase domain containing 1		C	LEU/SER,LEU/SER	0,4406		0,0,2203	154	143	146		2204,2204	5.3	1	7	dbSNP_134	146	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	C7orf58	NM_001105533.1,NM_024913.4	145,145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	735/784,735/1027	120884286	2,13004	2203	4300	6503	SO:0001583	missense	79974							g.chr7:120884286C>T		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.2204C>T	7.37:g.120884286C>T	ENSP00000309772:p.Ser735Leu		Somatic				CPED1_ENST00000450913.2_Missense_Mutation_p.S735L|CPED1_ENST00000423795.1_Missense_Mutation_p.S515L	p.S735L	NM_024913.4	NP_079189.4	WXS	Illumina GAIIx	Phase_I					18	2671	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.2204C>T	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599294	0.87055	0.0	2.33E-4	ENSG00000106034	ENST00000310396;ENST00000450913;ENST00000423795	T;T;T	0.26810	2.12;1.71;1.73	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000001	T	0.49712	0.1573	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.988;0.996	T	0.44498	-0.9324	10	0.51188	T	0.08	.	18.9585	0.92670	0.0:1.0:0.0:0.0	.	515;735;735	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	L	735;735;515	ENSP00000309772:S735L;ENSP00000406122:S735L;ENSP00000415573:S515L	ENSP00000309772:S735L	S	+	2	0	C7orf58	120671522	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.799000	0.75160	2.472000	0.83506	0.460000	0.39030	TCG		0.468	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		29	65	0	0	0	1	0	29	65					T	120884286	C	T	120884286	3	4	48	1	0	0	0	0	1	0	0	0	2407	893	31	1	2270	1	C7orf58	7	120884286	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	7513	120884286	38254377	2029	6497										
WNT16	51384	broad.mit.edu	37	chr7	120978941	120978941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgttggtttcaggctgtcGccaagttgatgtcagtagac	12	8	2	2	rs193080234		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:120978941G>A	ENST00000222462.2	+	4	930	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	WNT16_ENST00000361301.2_Missense_Mutation_p.A204T	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	214					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					TCAGGCTGTCGCCAAGTTGAT	0.418													G|||	1	0.000199681	0	0.0014	5008	,	,		18624	0		0	False		,,,				2504	0					ENST00000222462.2																			0				breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18						c.(640-642)Gcc>Acc		wingless-type MMTV integration site family, member 16							49	50	50					7																	120978941		2203	4300	6503	SO:0001583	missense	51384				anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr7:120978941G>A	AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"Wingless-type MMTV integration sites"	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.640G>A	7.37:g.120978941G>A	ENSP00000222462:p.Ala214Thr		Somatic				WNT16_ENST00000361301.2_Missense_Mutation_p.A204T	p.A214T	NM_057168.1	NP_476509.1	WXS	Illumina GAIIx	Phase_I	Q9UBV4	WNT16_HUMAN			4	930	+	all_neural(327;0.117)		214					Q2M3G1|Q9Y5C0	Missense_Mutation	SNP	ENST00000222462.2	37	c.640G>A	CCDS5781.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	12.31|12.31	1.899471|1.899471	0.33535|0.33535	.|.	.|.	ENSG00000002745|ENSG00000002745	ENST00000361301;ENST00000222462|ENST00000414945	T;T|.	0.75367|.	-0.93;-0.93|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.247278|.	0.46758|.	D|.	0.000267|.	T|T	0.55909|0.55909	0.1950|0.1950	L|L	0.28115|0.28115	0.83|0.83	0.46028|0.46028	D|D	0.998823|0.998823	B;B|.	0.27117|.	0.168;0.168|.	B;B|.	0.17722|.	0.019;0.019|.	T|T	0.59257|0.59257	-0.7488|-0.7488	10|6	0.10111|0.87932	T|D	0.7|0	.|.	13.0552|13.0552	0.58975|0.58975	0.0739:0.0:0.9261:0.0|0.0739:0.0:0.9261:0.0	.|.	214;204|.	Q9UBV4;E9PH60|.	WNT16_HUMAN;.|.	T|H	204;214|59	ENSP00000355065:A204T;ENSP00000222462:A214T|.	ENSP00000222462:A214T|ENSP00000398322:R59H	A|R	+|+	1|2	0|0	WNT16|WNT16	120766177|120766177	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	4.008000|4.008000	0.57103|0.57103	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.418	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168		16	43	0	0	0	1	0	16	43					A	120978941	G	A	120978941	3	1	48	1	0	0	0	0	1	0	0	0	17400	1087	38	1	723	1	WNT16	7	120978941	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	94655	120978941	38159722	2030	6498										
PTPRZ1	5803	broad.mit.edu	37	chr7	121651537	121651537	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catttgaatccatcctgtctTcctatgatggtgcacctttg	7	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:121651537T>C	ENST00000393386.2	+	12	2848	c.2437T>C	c.(2437-2439)Tcc>Ccc	p.S813P	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	813					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CATCCTGTCTTCCTATGATGG	0.458																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2437-2439)Tcc>Ccc		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							273	225	241					7																	121651537		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651537T>C	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.2437T>C	7.37:g.121651537T>C	ENSP00000377047:p.Ser813Pro		Somatic				PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	p.S813P	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	WXS	Illumina GAIIx	Phase_I	P23471	PTPRZ_HUMAN			12	2848	+			813					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.2437T>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.314382	0.60414	.	.	ENSG00000106278	ENST00000393386	T	0.52295	0.67	5.86	5.86	0.93980	.	0.170326	0.43110	D	0.000614	T	0.68504	0.3008	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71669	-0.4523	10	0.72032	D	0.01	.	16.2461	0.82446	0.0:0.0:0.0:1.0	.	813	P23471	PTPRZ_HUMAN	P	813	ENSP00000377047:S813P	ENSP00000377047:S813P	S	+	1	0	PTPRZ1	121438773	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.378000	0.59568	2.238000	0.73509	0.528000	0.53228	TCC		0.458	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		71	103	0	0	0	1	0	71	103					C	121651537	T	C	121651537	3	2	48	1	0	0	0	0	1	0	0	0	12829	1783	62	4	2483	4	PTPRZ1	7	121651537	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	672596	121651537	37487126	2031	6499										
IQUB	154865	broad.mit.edu	37	chr7	123104994	123104994	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggttatgatgtttgactcCtctcatcataaggtcaacct	7	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:123104994C>A	ENST00000466202.1	-	10	2227	c.1651G>T	c.(1651-1653)Gga>Tga	p.G551*	IQUB_ENST00000434450.1_Nonsense_Mutation_p.G551*|IQUB_ENST00000324698.6_Nonsense_Mutation_p.G551*	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	551					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGTTTGACTCCTCTCATCATA	0.313																																						ENST00000466202.1																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(1651-1653)Gga>Tga		IQ motif and ubiquitin domain containing							144	159	154					7																	123104994		2203	4297	6500	SO:0001587	stop_gained	154865							g.chr7:123104994C>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.1651G>T	7.37:g.123104994C>A	ENSP00000417769:p.Gly551*		Somatic				IQUB_ENST00000434450.1_Nonsense_Mutation_p.G551*|IQUB_ENST00000324698.6_Nonsense_Mutation_p.G551*	p.G551*			WXS	Illumina GAIIx	Phase_I	Q8NA54	IQUB_HUMAN			10	2227	-			551					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Nonsense_Mutation	SNP	ENST00000466202.1	37	c.1651G>T	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	38	6.746433	0.97809	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	.	.	.	5.41	5.41	0.78517	.	0.145341	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	13.8233	0.63336	0.0:0.9264:0.0:0.0736	.	.	.	.	X	551	.	ENSP00000324882:G551X	G	-	1	0	IQUB	122892230	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.428000	0.52792	2.702000	0.92279	0.643000	0.83706	GGA		0.313	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		27	60	1	0	2.61193e-14	1	3.39424e-14	27	60					A	123104994	C	A	123104994	4	1	48	1	0	0	0	0	0	1	0	0	7829	690	24	5	740	5	IQUB	7	123104994	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1453457	123104994	36033669	2032	6500										
LMOD2	442721	broad.mit.edu	37	chr7	123296133	123296133	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctagagagagagttggaagAcattgaacctgaccgcaacc	12	9	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:123296133A>G	ENST00000458573.2	+	1	273	c.116A>G	c.(115-117)gAc>gGc	p.D39G	LMOD2_ENST00000456238.2_Missense_Mutation_p.D39G	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	39	Glu-rich.|Tropomyosin-binding. {ECO:0000250}.					cytoskeleton (GO:0005856)											GAGTTGGAAGACATTGAACCT	0.537																																						ENST00000458573.2																			0											c.(115-117)gAc>gGc		leiomodin 2 (cardiac)							55	58	57					7																	123296133		1946	4134	6080	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123296133A>G	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.116A>G	7.37:g.123296133A>G	ENSP00000411932:p.Asp39Gly		Somatic				LMOD2_ENST00000456238.2_Missense_Mutation_p.D39G	p.D39G	NM_207163.1	NP_997046.1	WXS	Illumina GAIIx	Phase_I	Q6P5Q4	LMOD2_HUMAN			1	273	+			39			Glu-rich.|Tropomyosin-binding (By similarity).		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.116A>G	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.844862	0.51164	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074;ENST00000456238	T;T	0.34275	1.37;1.37	5.77	5.77	0.91146	.	0.000000	0.38837	N	0.001558	T	0.60327	0.2260	M	0.73217	2.22	0.53005	D	0.999963	D	0.89917	1.0	D	0.87578	0.998	T	0.61633	-0.7023	10	0.51188	T	0.08	-25.8665	16.1024	0.81184	1.0:0.0:0.0:0.0	.	39	Q6P5Q4	LMOD2_HUMAN	G	39	ENSP00000411932:D39G;ENSP00000398975:D39G	ENSP00000405123:D39G	D	+	2	0	LMOD2	123083369	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.449000	0.80643	2.200000	0.70718	0.459000	0.35465	GAC		0.537	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			3	23	0	0	0	1	0	3	23					G	123296133	A	G	123296133	3	3	48	1	0	0	0	0	1	0	0	0	8866	275	10	4	118	4	LMOD2	7	123296133	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	191139	123296133	35842530	2033	6501										
WASL	8976	broad.mit.edu	37	chr7	123332489	123332489	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gactgttctgctccacttttTttagctgagcaccctctcta	6	13	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:123332489T>G	ENST00000223023.4	-	9	1591	c.1259A>C	c.(1258-1260)aAa>aCa	p.K420T		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	420	WH2 1. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCCACTTTTTTTAGCTGAGC	0.493																																						ENST00000223023.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1258-1260)aAa>aCa		Wiskott-Aldrich syndrome-like							77	73	75					7																	123332489		2203	4300	6503	SO:0001583	missense	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332489T>G	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1259A>C	7.37:g.123332489T>G	ENSP00000223023:p.Lys420Thr		Somatic					p.K420T	NM_003941.2	NP_003932.3	WXS	Illumina GAIIx	Phase_I	O00401	WASL_HUMAN			9	1591	-			420			WH2 1.		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	c.1259A>C	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.017786	0.54576	.	.	ENSG00000106299	ENST00000223023	T	0.70282	-0.47	5.79	5.79	0.91817	Wiscott-Aldrich syndrome, C-terminal (1);Actin-binding WH2 (3);	0.049144	0.85682	D	0.000000	D	0.82623	0.5077	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.83994	0.0339	10	0.56958	D	0.05	-19.8984	10.4624	0.44587	0.0:0.0725:0.0:0.9275	.	420	O00401	WASL_HUMAN	T	420	ENSP00000223023:K420T	ENSP00000223023:K420T	K	-	2	0	WASL	123119725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.923000	0.56469	2.201000	0.70794	0.528000	0.53228	AAA		0.493	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		24	37	0	0	0	1	0	24	37					G	123332489	T	G	123332489	3	3	48	1	0	0	0	0	1	0	0	0	17271	1841	64	4	270	4	WASL	7	123332489	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	36356	123332489	35806174	2034	6502										
GPR37	2861	broad.mit.edu	37	chr7	124404113	124404113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagaagatgatgagaaagtcCcagaaggccaggttggccaa	13	7	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:124404113C>A	ENST00000303921.2	-	1	1568	c.918G>T	c.(916-918)tgG>tgT	p.W306C		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	306					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGAGAAAGTCCCAGAAGGCCA	0.552																																						ENST00000303921.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(916-918)tgG>tgT		G protein-coupled receptor 37 (endothelin receptor type B-like)							123	131	129					7																	124404113		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404113C>A		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.918G>T	7.37:g.124404113C>A	ENSP00000306449:p.Trp306Cys		Somatic					p.W306C	NM_005302.2	NP_005293.1	WXS	Illumina GAIIx	Phase_I	O15354	GPR37_HUMAN			1	1568	-			306					A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.918G>T	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424323	0.83667	.	.	ENSG00000170775	ENST00000303921	T	0.71461	-0.57	5.53	5.53	0.82687	GPCR, rhodopsin-like superfamily (1);	0.195097	0.47455	D	0.000232	T	0.75620	0.3874	L	0.45581	1.43	0.80722	D	1	P	0.51240	0.943	P	0.52957	0.714	T	0.75619	-0.3255	10	0.52906	T	0.07	-26.393	18.6302	0.91357	0.0:1.0:0.0:0.0	.	306	O15354	GPR37_HUMAN	C	306	ENSP00000306449:W306C	ENSP00000306449:W306C	W	-	3	0	GPR37	124191349	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.645000	0.83430	2.876000	0.98609	0.643000	0.83706	TGG		0.552	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		25	116	1	0	4.26978e-12	1	5.35675e-12	25	116					A	124404113	C	A	124404113	3	1	48	1	0	0	0	0	1	0	0	0	6699	624	22	5	931	5	GPR37	7	124404113	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1071624	124404113	34734550	2035	6503										
GRM8	2918	broad.mit.edu	37	chr7	126409928	126409928	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgtaacttaccattaaaatTtacagcccgaatataaccaa	3	9	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:126409928T>G	ENST00000339582.2	-	7	2156	c.1348A>C	c.(1348-1350)Aat>Cat	p.N450H	GRM8_ENST00000444921.2_Missense_Mutation_p.N450H|GRM8_ENST00000358373.3_Missense_Mutation_p.N450H|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.N450H			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	450					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)				CCATTAAAATTTACAGCCCGA	0.408										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.(1348-1350)Aat>Cat		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						107	100	102					7																	126409928		2203	4300	6503	SO:0001583	missense	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126409928T>G		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.1348A>C	7.37:g.126409928T>G	ENSP00000344173:p.Asn450His	HNSCC(24;0.065)	Somatic				GRM8_ENST00000358373.3_Missense_Mutation_p.N450H|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.N450H|GRM8_ENST00000405249.1_Missense_Mutation_p.N450H	p.N450H			WXS	Illumina GAIIx	Phase_I	O00222	GRM8_HUMAN			7	2156	-		Prostate(267;0.186)	450					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1348A>C	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.196837	0.58126	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.78	5.78	0.91487	Extracellular ligand-binding receptor (1);	0.102768	0.64402	D	0.000006	D	0.90930	0.7149	M	0.74467	2.265	0.58432	D	0.999998	B;D;D	0.56035	0.039;0.974;0.971	B;P;P	0.53450	0.067;0.667;0.726	D	0.91745	0.5407	10	0.62326	D	0.03	.	15.287	0.73835	0.0:0.0:0.0:1.0	.	450;450;450	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	H	450	ENSP00000344173:N450H;ENSP00000409790:N450H;ENSP00000351142:N450H;ENSP00000385731:N450H	ENSP00000344173:N450H	N	-	1	0	GRM8	126197164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.991000	0.88244	2.190000	0.69967	0.533000	0.62120	AAT		0.408	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			4	47	0	0	0	1	0	4	47					G	126409928	T	G	126409928	3	3	48	1	0	0	0	0	1	0	0	0	6812	1841	64	4	1448	4	GRM8	7	126409928	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2005815	126409928	32728735	2036	6504										
GRM8	2918	broad.mit.edu	37	chr7	126544109	126544109	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agacaggtgctattttggatCcccaactatctgagccaatc	8	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:126544109C>A	ENST00000339582.2	-	5	1743	c.935G>T	c.(934-936)gGa>gTa	p.G312V	GRM8_ENST00000444921.2_Missense_Mutation_p.G312V|GRM8_ENST00000358373.3_Missense_Mutation_p.G312V|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.G312V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	312					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)				TATTTTGGATCCCCAACTATC	0.403										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.(934-936)gGa>gTa		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						95	94	95					7																	126544109		2203	4300	6503	SO:0001583	missense	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126544109C>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.935G>T	7.37:g.126544109C>A	ENSP00000344173:p.Gly312Val	HNSCC(24;0.065)	Somatic				GRM8_ENST00000358373.3_Missense_Mutation_p.G312V|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.G312V|GRM8_ENST00000405249.1_Missense_Mutation_p.G312V	p.G312V			WXS	Illumina GAIIx	Phase_I	O00222	GRM8_HUMAN			5	1743	-		Prostate(267;0.186)	312					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.935G>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449320	0.84101	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.03	5.03	0.67393	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91626	0.7354	M	0.84156	2.68	0.80722	D	1	D;P;D	0.89917	1.0;0.884;0.999	D;B;D	0.79784	0.993;0.422;0.976	D	0.92941	0.6372	10	0.87932	D	0	.	17.3782	0.87398	0.0:1.0:0.0:0.0	.	312;312;312	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	V	312	ENSP00000344173:G312V;ENSP00000409790:G312V;ENSP00000351142:G312V;ENSP00000385731:G312V	ENSP00000344173:G312V	G	-	2	0	GRM8	126331345	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.720000	0.84759	2.350000	0.79820	0.508000	0.49915	GGA		0.403	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			19	44	1	0	8.34094e-07	1	9.42356e-07	19	44					A	126544109	C	A	126544109	3	1	48	1	0	0	0	0	1	0	0	0	6812	855	30	2	1869	2	GRM8	7	126544109	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	134181	126544109	32594554	2037	6505										
FSCN3	29999	broad.mit.edu	37	chr7	127236471	127236471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagccccactgtgcagcttCgttcagccaatggctactac	9	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:127236471C>T	ENST00000265825.5	+	3	1150	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	FSCN3_ENST00000420086.2_Missense_Mutation_p.R177C|GCC1_ENST00000497650.1_5'Flank	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	311						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGTGCAGCTTCGTTCAGCCAA	0.522																																						ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(931-933)Cgt>Tgt		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)							243	211	222					7																	127236471		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127236471C>T		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"Fascins"	3961	protein-coding gene	gene with protein product		615800	"fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)", "fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.931C>T	7.37:g.127236471C>T	ENSP00000265825:p.Arg311Cys		Somatic				FSCN3_ENST00000420086.2_Missense_Mutation_p.R177C	p.R311C	NM_020369.2	NP_065102.1	WXS	Illumina GAIIx	Phase_I	Q9NQT6	FSCN3_HUMAN			3	1150	+			311					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.931C>T	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992384	0.74703	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.55760	1.2;0.5	5.55	5.55	0.83447	Fascin domain (1);Actin cross-linking (1);	0.105600	0.43919	D	0.000509	T	0.58963	0.2159	N	0.19112	0.55	0.58432	D	0.999993	D;D	0.89917	0.987;1.0	P;D	0.78314	0.783;0.991	T	0.62525	-0.6836	10	0.66056	D	0.02	-24.0266	15.3668	0.74529	0.0:1.0:0.0:0.0	.	177;311	B4DU68;Q9NQT6	.;FSCN3_HUMAN	C	311;177	ENSP00000265825:R311C;ENSP00000412243:R177C	ENSP00000265825:R311C	R	+	1	0	FSCN3	127023707	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	2.411000	0.44600	2.768000	0.95171	0.655000	0.94253	CGT		0.522	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		49	102	0	0	0	1	0	49	102					T	127236471	C	T	127236471	3	4	48	1	0	0	0	0	1	0	0	0	6077	884	31	1	941	1	FSCN3	7	127236471	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	692362	127236471	31902192	2038	6506										
FSCN3	29999	broad.mit.edu	37	chr7	127239488	127239488	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcgctccttccttgtattgCgaggtcgttatggctatgtg	11	9	0	0	rs192546949		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:127239488C>T	ENST00000265825.5	+	5	1393	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	FSCN3_ENST00000420086.2_Nonsense_Mutation_p.R258*	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	392						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R392R(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CCTTGTATTGCGAGGTCGTTA	0.517													C|||	1	0.000199681	0	0	5008	,	,		19583	0		0.001	False		,,,				2504	0					ENST00000265825.5																			1	Substitution - coding silent(1)	p.R392R(1)	lung(1)	endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1174-1176)Cga>Tga		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)							147	127	134					7																	127239488		2203	4300	6503	SO:0001587	stop_gained	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127239488C>T		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"Fascins"	3961	protein-coding gene	gene with protein product		615800	"fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)", "fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1174C>T	7.37:g.127239488C>T	ENSP00000265825:p.Arg392*		Somatic				FSCN3_ENST00000420086.2_Nonsense_Mutation_p.R258*	p.R392*	NM_020369.2	NP_065102.1	WXS	Illumina GAIIx	Phase_I	Q9NQT6	FSCN3_HUMAN			5	1393	+			392					A4D0Z2|A6NLL7|B2RA62|B4DU68	Nonsense_Mutation	SNP	ENST00000265825.5	37	c.1174C>T	CCDS34746.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	37	6.589529	0.97688	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	.	.	.	5.59	2.62	0.31277	.	0.000000	0.48767	D	0.000176	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.6652	11.7882	0.52055	0.4568:0.5432:0.0:0.0	.	.	.	.	X	392;258	.	ENSP00000265825:R392X	R	+	1	2	FSCN3	127026724	0.955000	0.32602	0.202000	0.23494	0.098000	0.18820	0.404000	0.20999	0.668000	0.31126	0.650000	0.86243	CGA		0.517	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		4	87	0	0	0	1	0	4	87					T	127239488	C	T	127239488	4	4	48	1	0	0	0	0	0	1	0	0	6077	760	27	1	1192	1	FSCN3	7	127239488	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3017	127239488	31899175	2039	6507										
SND1	27044	broad.mit.edu	37	chr7	127721475	127721475	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagtgctggaggagaaggagCgatctgctagctacaagccc	14	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:127721475C>T	ENST00000354725.3	+	18	2226	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	MIR593_ENST00000384856.1_RNA	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	678					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						GGAGAAGGAGCGATCTGCTAG	0.592																																						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.(2032-2034)Cga>Tga		staphylococcal nuclease and tudor domain containing 1							164	110	128					7																	127721475		2203	4300	6503	SO:0001587	stop_gained	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.chr7:127721475C>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.2032C>T	7.37:g.127721475C>T	ENSP00000346762:p.Arg678*		Somatic					p.R678*	NM_014390.2	NP_055205.2	WXS	Illumina GAIIx	Phase_I	Q7KZF4	SND1_HUMAN			18	2226	+			678					Q13122|Q96AG0	Nonsense_Mutation	SNP	ENST00000354725.3	37	c.2032C>T	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	C	39	7.619242	0.98393	.	.	ENSG00000197157	ENST00000354725;ENST00000438400;ENST00000486037	.	.	.	5.54	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7234	11.5235	0.50565	0.3257:0.6743:0.0:0.0	.	.	.	.	X	678;668;164	.	ENSP00000346762:R678X	R	+	1	2	SND1	127508711	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	3.437000	0.52863	1.436000	0.47453	0.561000	0.74099	CGA		0.592	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		13	18	0	0	0	1	0	13	18					T	127721475	C	T	127721475	4	4	48	1	0	0	0	0	0	1	0	0	14859	760	27	1	2102	1	SND1	7	127721475	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	481987	127721475	31417188	2040	6508										
SND1	27044	broad.mit.edu	37	chr7	127726997	127726997	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcttcctctgcagagagaggTcctgccatccacccgcctgg	11	16	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:127726997T>C	ENST00000354725.3	+	21	2506	c.2312T>C	c.(2311-2313)gTc>gCc	p.V771A		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	771	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				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						CAGAGAGAGGTCCTGCCATCC	0.617																																						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.(2311-2313)gTc>gCc		staphylococcal nuclease and tudor domain containing 1							131	89	103					7																	127726997		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.chr7:127726997T>C		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.2312T>C	7.37:g.127726997T>C	ENSP00000346762:p.Val771Ala		Somatic					p.V771A	NM_014390.2	NP_055205.2	WXS	Illumina GAIIx	Phase_I	Q7KZF4	SND1_HUMAN			21	2506	+			771			Tudor.		Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	c.2312T>C	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	T	10.40	1.338716	0.24253	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.09350	2.99	5.96	5.96	0.96718	Tudor subgroup (1);Staphylococcal nuclease (SNase-like) (1);Staphylococcal nuclease (SNase-like), OB-fold (1);Maternal tudor protein (1);Tudor domain (1);	0.273576	0.41823	D	0.000803	T	0.12092	0.0294	L	0.56340	1.77	0.37812	D	0.928073	B	0.06786	0.001	B	0.18871	0.023	T	0.14035	-1.0487	10	0.15066	T	0.55	-9.7161	12.8402	0.57797	0.0:0.0:0.0:1.0	.	771	Q7KZF4	SND1_HUMAN	A	771;761	ENSP00000346762:V771A	ENSP00000346762:V771A	V	+	2	0	SND1	127514233	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	3.626000	0.54245	2.285000	0.76669	0.533000	0.62120	GTC		0.617	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		8	81	0	0	0	1	0	8	81					C	127726997	T	C	127726997	3	2	48	1	0	0	0	0	1	0	0	0	14859	1667	58	4	2394	4	SND1	7	127726997	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	5522	127726997	31411666	2041	6509										
FAM71F2	346653	broad.mit.edu	37	chr7	128317859	128317859	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agatgcccaccaactccacaGaaacaacagtaagtgggcct	8	13	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:128317859G>A	ENST00000480462.1	+	3	713	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	FAM71F2_ENST00000477515.1_Intron|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Missense_Mutation_p.E194K			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	203										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						CAACTCCACAGAAACAACAGT	0.438																																						ENST00000480462.1																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(607-609)Gaa>Aaa		family with sequence similarity 71, member F2							43	44	43					7																	128317859		1975	4198	6173	SO:0001583	missense	346653							g.chr7:128317859G>A	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	ENST00000480462.1:c.607G>A	7.37:g.128317859G>A	ENSP00000420140:p.Glu203Lys		Somatic				FAM71F2_ENST00000477515.1_Intron|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Missense_Mutation_p.E194K	p.E203K			WXS	Illumina GAIIx	Phase_I	Q6NXP2	F71F2_HUMAN			3	713	+			203					Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	c.607G>A	CCDS47701.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838941	0.32513	.	.	ENSG00000205085	ENST00000474069;ENST00000480462;ENST00000378704;ENST00000434001	T;T;T;T	0.09350	2.99;2.99;2.99;2.99	5.4	2.44	0.29823	.	1.193840	0.06149	N	0.673718	T	0.10852	0.0265	L	0.50333	1.59	0.09310	N	1	B;B	0.18166	0.026;0.015	B;B	0.19391	0.025;0.011	T	0.36187	-0.9758	10	0.31617	T	0.26	-6.8779	3.3423	0.07123	0.0929:0.1733:0.5541:0.1797	.	194;203	Q6NXP2-2;Q6NXP2	.;F71F2_HUMAN	K	194;203;194;194	ENSP00000418907:E194K;ENSP00000420140:E203K;ENSP00000367976:E194K;ENSP00000401654:E194K	ENSP00000367976:E194K	E	+	1	0	FAM71F2	128105095	0.000000	0.05858	0.007000	0.13788	0.010000	0.07245	0.484000	0.22308	1.390000	0.46547	0.650000	0.86243	GAA		0.438	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			11	24	0	0	0	1	0	11	24					A	128317859	G	A	128317859	3	1	48	1	0	0	0	0	1	0	0	0	5621	943	33	3	617	3	FAM71F2	7	128317859	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	590862	128317859	30820804	2042	6510										
OPN1SW	611	broad.mit.edu	37	chr7	128415645	128415645	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagaatgtagttgaggggcTgccgcaactttttgtagcgc	13	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:128415645T>C	ENST00000249389.2	-	1	199	c.200A>G	c.(199-201)cAg>cGg	p.Q67R		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	67					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						GTTGAGGGGCTGCCGCAACTT	0.537																																						ENST00000249389.2																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						c.(199-201)cAg>cGg		opsin 1 (cone pigments), short-wave-sensitive							112	119	117					7																	128415645		2203	4300	6503	SO:0001583	missense	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128415645T>C	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"GPCR / Class A : Opsin receptors"	1012	protein-coding gene	gene with protein product	"color blindness, tritan", "blue-sensitive opsin"	613522	"blue cone photoreceptor pigment"	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.200A>G	7.37:g.128415645T>C	ENSP00000249389:p.Gln67Arg		Somatic					p.Q67R	NM_001708.2	NP_001699.1	WXS	Illumina GAIIx	Phase_I	P03999	OPSB_HUMAN			1	199	-			67					Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	c.200A>G	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.321572	0.41096	.	.	ENSG00000128617	ENST00000249389	T	0.36878	1.23	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.142736	0.47093	D	0.000256	T	0.59459	0.2195	M	0.94021	3.485	0.40779	D	0.983157	B	0.31174	0.311	B	0.42851	0.4	T	0.67933	-0.5542	10	0.72032	D	0.01	.	13.3321	0.60495	0.0:0.0:0.0:1.0	.	67	P03999	OPSB_HUMAN	R	67	ENSP00000249389:Q67R	ENSP00000249389:Q67R	Q	-	2	0	OPN1SW	128202881	0.007000	0.16637	1.000000	0.80357	0.209000	0.24338	0.576000	0.23744	2.248000	0.74166	0.533000	0.62120	CAG		0.537	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		52	118	0	0	0	1	0	52	118					C	128415645	T	C	128415645	3	2	48	1	0	0	0	0	1	0	0	0	10889	1580	55	4	866	4	OPN1SW	7	128415645	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	97786	128415645	30723018	2043	6511										
AHCYL2	23382	broad.mit.edu	37	chr7	129045047	129045047	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgttgccgtgaatcaattCttgatgggtaatgtttatta	9	5	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:129045047C>A	ENST00000325006.3	+	8	1189	c.1135C>A	c.(1135-1137)Ctt>Att	p.L379I	AHCYL2_ENST00000474594.1_Missense_Mutation_p.L276I|AHCYL2_ENST00000490911.1_Missense_Mutation_p.L276I|AHCYL2_ENST00000446212.1_Missense_Mutation_p.L277I|AHCYL2_ENST00000446544.2_Missense_Mutation_p.L378I|RNU7-16P_ENST00000516471.1_RNA|AHCYL2_ENST00000531335.2_Missense_Mutation_p.L298I	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	379					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)	p.L379I(1)|p.L276I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TGAATCAATTCTTGATGGGTA	0.393																																					Pancreas(160;1736 1964 29875 40941 45605)	ENST00000325006.3																			2	Substitution - Missense(2)	p.L379I(1)|p.L276I(1)	endometrium(2)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1135-1137)Ctt>Att		adenosylhomocysteinase-like 2							186	185	186					7																	129045047		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129045047C>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.1135C>A	7.37:g.129045047C>A	ENSP00000315931:p.Leu379Ile		Somatic				AHCYL2_ENST00000446544.2_Missense_Mutation_p.L378I|AHCYL2_ENST00000531335.2_Missense_Mutation_p.L298I|AHCYL2_ENST00000446212.1_Missense_Mutation_p.L277I|AHCYL2_ENST00000474594.1_Missense_Mutation_p.L276I|AHCYL2_ENST00000490911.1_Missense_Mutation_p.L276I	p.L379I	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	WXS	Illumina GAIIx	Phase_I	Q96HN2	SAHH3_HUMAN			8	1189	+			379					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.1135C>A	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.50|14.50	2.555257|2.555257	0.45487|0.45487	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	.|T;T;T;T;T;T	.|0.76968	.|-1.06;-1.05;-1.03;-1.02;-1.02;-1.02	5.82|5.82	5.82|5.82	0.92795|0.92795	.|S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68467|0.68467	0.3004|0.3004	N|N	0.16166|0.16166	0.38|0.38	0.42004|0.42004	D|D	0.990905|0.990905	.|B;B;B;B;B	.|0.30326	.|0.03;0.03;0.276;0.03;0.233	.|B;B;B;B;B	.|0.43658	.|0.298;0.298;0.426;0.298;0.301	T|T	0.63633|0.63633	-0.6593|-0.6593	5|10	.|0.16420	.|T	.|0.52	-13.5863|-13.5863	10.9327|10.9327	0.47228|0.47228	0.0:0.9157:0.0:0.0843|0.0:0.9157:0.0:0.0843	.|.	.|276;277;379;276;378	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	L|I	285|379;378;298;276;277;276	.|ENSP00000315931:L379I;ENSP00000413639:L378I;ENSP00000431787:L298I;ENSP00000420459:L276I;ENSP00000405267:L277I;ENSP00000420801:L276I	.|ENSP00000315931:L379I	F|L	+|+	3|1	2|0	AHCYL2|AHCYL2	128832283|128832283	0.941000|0.941000	0.31946|0.31946	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	0.805000|0.805000	0.27112|0.27112	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	TTC|CTT		0.393	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			25	128	1	0	3.6726e-16	1	4.87283e-16	25	128					A	129045047	C	A	129045047	3	1	48	1	0	0	0	0	1	0	0	0	411	913	32	2	1287	2	AHCYL2	7	129045047	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	629402	129045047	30093616	2044	6512										
FAM40B	57464	broad.mit.edu	37	chr7	129100195	129100195	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagaatgaagaggagctggaGaagtgccctatgtctttggt	14	5	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:129100195G>T	ENST00000249344.2	+	13	1498	c.1458G>T	c.(1456-1458)gaG>gaT	p.E486D	STRIP2_ENST00000435494.2_Missense_Mutation_p.E486D	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	486					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											AGGAGCTGGAGAAGTGCCCTA	0.473																																						ENST00000249344.2																			0											c.(1456-1458)gaG>gaT		striatin interacting protein 2							98	87	91					7																	129100195		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129100195G>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog B (yeast)"		"family with sequence similarity 40, member B"	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1458G>T	7.37:g.129100195G>T	ENSP00000249344:p.Glu486Asp		Somatic				STRIP2_ENST00000435494.2_Missense_Mutation_p.E486D	p.E486D	NM_020704.2	NP_065755.1	WXS	Illumina GAIIx	Phase_I					13	1498	+								Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.1458G>T	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	9.541	1.113379	0.20795	.	.	ENSG00000128578	ENST00000249344;ENST00000435494;ENST00000450266	T;T	0.47528	0.85;0.84	5.49	2.7	0.31948	.	0.052955	0.85682	D	0.000000	T	0.36635	0.0974	L	0.38838	1.175	0.42635	D	0.993398	P;B	0.37061	0.58;0.217	B;B	0.40256	0.324;0.138	T	0.07233	-1.0783	10	0.24483	T	0.36	-26.1295	9.2106	0.37316	0.3608:0.0:0.6392:0.0	.	486;486	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	D	486;486;157	ENSP00000249344:E486D;ENSP00000392393:E486D	ENSP00000249344:E486D	E	+	3	2	FAM40B	128887431	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.982000	0.40638	0.681000	0.31386	-0.229000	0.12294	GAG		0.473	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		7	17	1	0	8.12818e-05	1	8.79784e-05	7	17					T	129100195	G	T	129100195	3	4	48	1	0	0	0	0	1	0	0	0	5569	933	33	2	1508	2	FAM40B	7	129100195	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	55148	129100195	30038468	2045	6513										
PLXNA4	91584	broad.mit.edu	37	chr7	131866291	131866291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaagccaaactcctcgggcCtctcggtcaggtctgactgg	12	13	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:131866291C>T	ENST00000359827.3	-	18	4303	c.3341G>A	c.(3340-3342)aGg>aAg	p.R1114K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1114K			Q9HCM2	PLXA4_HUMAN	plexin A4	1114	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCCTCGGGCCTCTCGGTCAG	0.577																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(3340-3342)aGg>aAg		plexin A4							107	111	110					7																	131866291		1928	4122	6050	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131866291C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3341G>A	7.37:g.131866291C>T	ENSP00000352882:p.Arg1114Lys		Somatic				PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1114K	p.R1114K			WXS	Illumina GAIIx	Phase_I	Q9HCM2	PLXA4_HUMAN			18	4303	-			1114			IPT/TIG 3.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3341G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466772	0.63625	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.58652	0.32;0.32	5.25	5.25	0.73442	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.097258	0.64402	D	0.000004	T	0.54935	0.1889	L	0.52126	1.63	0.50632	D	0.999887	B	0.17038	0.02	B	0.23852	0.049	T	0.49952	-0.8884	10	0.22109	T	0.4	.	18.8552	0.92249	0.0:1.0:0.0:0.0	.	1114	Q9HCM2	PLXA4_HUMAN	K	1114	ENSP00000323194:R1114K;ENSP00000352882:R1114K	ENSP00000323194:R1114K	R	-	2	0	PLXNA4	131516831	0.998000	0.40836	0.999000	0.59377	0.960000	0.62799	3.853000	0.55941	2.459000	0.83118	0.561000	0.74099	AGG		0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		32	70	0	0	0	1	0	32	70					T	131866291	C	T	131866291	3	4	48	1	0	0	0	0	1	0	0	0	12131	681	24	3	2403	3	PLXNA4	7	131866291	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2766096	131866291	27272372	2046	6514										
PLXNA4	91584	broad.mit.edu	37	chr7	131872281	131872281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaccaccacgttgcttccgGcattcaggttggtgcctgtg	11	13	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:131872281G>A	ENST00000359827.3	-	15	3904	c.2942C>T	c.(2941-2943)gCc>gTc	p.A981V	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A981V			Q9HCM2	PLXA4_HUMAN	plexin A4	981	IPT/TIG 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTTGCTTCCGGCATTCAGGTT	0.562																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(2941-2943)gCc>gTc		plexin A4							202	217	212					7																	131872281		2107	4246	6353	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131872281G>A	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.2942C>T	7.37:g.131872281G>A	ENSP00000352882:p.Ala981Val		Somatic				PLXNA4_ENST00000321063.4_Missense_Mutation_p.A981V	p.A981V			WXS	Illumina GAIIx	Phase_I	Q9HCM2	PLXA4_HUMAN			15	3904	-			981			IPT/TIG 2.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.2942C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	35	5.468628	0.96274	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.76316	-1.01;-1.01	5.54	5.54	0.83059	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85039	0.5606	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.83194	-0.0082	10	0.37606	T	0.19	.	19.4761	0.94989	0.0:0.0:1.0:0.0	.	981	Q9HCM2	PLXA4_HUMAN	V	981	ENSP00000323194:A981V;ENSP00000352882:A981V	ENSP00000323194:A981V	A	-	2	0	PLXNA4	131522821	1.000000	0.71417	0.967000	0.41034	0.991000	0.79684	9.441000	0.97557	2.615000	0.88500	0.555000	0.69702	GCC		0.562	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		24	271	0	0	0	1	0	24	271					A	131872281	G	A	131872281	3	1	48	1	0	0	0	0	1	0	0	0	12131	1203	42	3	2814	3	PLXNA4	7	131872281	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5990	131872281	27266382	2047	6515										
PLXNA4	91584	broad.mit.edu	37	chr7	131912214	131912214	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctccgggatgctcaccattCtctgtgatgatccggggcac	11	14	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:131912214C>A	ENST00000359827.3	-	7	2840	c.1878G>T	c.(1876-1878)gaG>gaT	p.E626D	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E626D			Q9HCM2	PLXA4_HUMAN	plexin A4	626					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTCACCATTCTCTGTGATGA	0.572																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(1876-1878)gaG>gaT		plexin A4							58	62	61					7																	131912214		2094	4231	6325	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131912214C>A	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.1878G>T	7.37:g.131912214C>A	ENSP00000352882:p.Glu626Asp		Somatic				PLXNA4_ENST00000321063.4_Missense_Mutation_p.E626D	p.E626D			WXS	Illumina GAIIx	Phase_I	Q9HCM2	PLXA4_HUMAN			7	2840	-			626					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1878G>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	5.244	0.230534	0.09969	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.00966	5.49;5.49	5.73	3.91	0.45181	.	0.047543	0.85682	D	0.000000	T	0.00384	0.0012	N	0.00413	-1.525	0.43334	D	0.995378	B	0.02656	0.0	B	0.04013	0.001	T	0.56498	-0.7969	10	0.14252	T	0.57	.	9.05	0.36369	0.0:0.782:0.0:0.218	.	626	Q9HCM2	PLXA4_HUMAN	D	626	ENSP00000323194:E626D;ENSP00000352882:E626D	ENSP00000323194:E626D	E	-	3	2	PLXNA4	131562754	1.000000	0.71417	0.912000	0.35992	0.195000	0.23768	1.169000	0.31871	0.767000	0.33267	0.655000	0.94253	GAG		0.572	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		8	22	1	0	0.000157383	1	0.000169016	8	22					A	131912214	C	A	131912214	3	1	48	1	0	0	0	0	1	0	0	0	12131	912	32	2	3910	2	PLXNA4	7	131912214	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	39933	131912214	27226449	2048	6516										
CNOT4	4850	broad.mit.edu	37	chr7	135078870	135078870	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgctgctgaaattgagggAacctctggggcaagactgaa	15	7	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:135078870A>G	ENST00000315544.5	-	10	1706	c.1427T>C	c.(1426-1428)tTc>tCc	p.F476S	CNOT4_ENST00000428680.2_Missense_Mutation_p.F473S|CNOT4_ENST00000541284.1_Missense_Mutation_p.F476S|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000361528.4_Missense_Mutation_p.F473S|CNOT4_ENST00000451834.1_Missense_Mutation_p.F473S|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000423368.2_Missense_Mutation_p.F476S	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	476					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						AAATTGAGGGAACCTCTGGGG	0.502																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(1417-1419)tTc>tCc		CCR4-NOT transcription complex, subunit 4							92	98	96					7																	135078870		1957	4154	6111	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.chr7:135078870A>G	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.1427T>C	7.37:g.135078870A>G	ENSP00000326731:p.Phe476Ser		Somatic				CNOT4_ENST00000451834.1_Missense_Mutation_p.F473S|CNOT4_ENST00000541284.1_Missense_Mutation_p.F476S|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000361528.4_Missense_Mutation_p.F473S|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000423368.2_Missense_Mutation_p.F476S|CNOT4_ENST00000315544.5_Missense_Mutation_p.F476S	p.F473S	NM_001008225.2	NP_001008226.1	WXS	Illumina GAIIx	Phase_I	O95628	CNOT4_HUMAN			10	1697	-			476					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	c.1418T>C	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.717847	0.48622	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000428680;ENST00000315544	T;T;T;T;T;T	0.51071	0.73;0.72;0.88;0.87;0.84;0.84	6.17	5.02	0.67125	.	0.089772	0.85682	N	0.000000	T	0.27313	0.0670	L	0.27053	0.805	0.48040	D	0.999578	P;B;B;B;B;B	0.37466	0.596;0.0;0.001;0.001;0.0;0.0	B;B;B;B;B;B	0.26864	0.074;0.002;0.001;0.003;0.002;0.002	T	0.06698	-1.0812	10	0.11182	T	0.66	-12.101	11.3759	0.49728	0.9302:0.0:0.0698:0.0	.	473;476;476;473;476;473	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	S	476;473;476;476;473;473;476	ENSP00000445508:F476S;ENSP00000388491:F473S;ENSP00000406777:F476S;ENSP00000354673:F473S;ENSP00000399108:F473S;ENSP00000326731:F476S	ENSP00000262563:F476S	F	-	2	0	CNOT4	134729410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	1.160000	0.42584	0.533000	0.62120	TTC		0.502	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		30	52	0	0	0	1	0	30	52					G	135078870	A	G	135078870	3	3	48	1	0	0	0	0	1	0	0	0	3623	246	9	4	614	4	CNOT4	7	135078870	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	3166656	135078870	24059793	2049	6517										
CHRM2	1129	broad.mit.edu	37	chr7	136700079	136700079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctctctttcatcctctgggCtccagccattctcttctggc	6	17	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:136700079C>T	ENST00000445907.2	+	3	995	c.467C>T	c.(466-468)gCt>gTt	p.A156V	hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.A156V|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.A156V|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.A156V|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.A156V|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.A156V	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	156					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)	ATCCTCTGGGCTCCAGCCATT	0.498																																						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.(466-468)gCt>gTt		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)						75	76	76					7																	136700079		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.chr7:136700079C>T		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.467C>T	7.37:g.136700079C>T	ENSP00000399745:p.Ala156Val		Somatic				CHRM2_ENST00000401861.1_Missense_Mutation_p.A156V|CHRM2_ENST00000397608.3_Missense_Mutation_p.A156V|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.A156V|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.A156V|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.A156V|AC009264.1_ENST00000425981.2_RNA	p.A156V	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	WXS	Illumina GAIIx	Phase_I	P08172	ACM2_HUMAN			3	995	+			156					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.467C>T	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709119	0.89018	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77922	0.4203	L	0.47078	1.49	0.80722	D	1	D	0.54397	0.966	P	0.62014	0.897	T	0.71052	-0.4704	10	0.15066	T	0.55	-2.2428	19.5581	0.95361	0.0:1.0:0.0:0.0	.	156	P08172	ACM2_HUMAN	V	156	ENSP00000399745:A156V;ENSP00000415386:A156V;ENSP00000319984:A156V;ENSP00000380733:A156V;ENSP00000384937:A156V;ENSP00000384401:A156V	ENSP00000319984:A156V	A	+	2	0	CHRM2	136350619	1.000000	0.71417	0.986000	0.45419	0.978000	0.69477	5.954000	0.70298	2.614000	0.88457	0.655000	0.94253	GCT		0.498	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			6	97	0	0	0	1	0	6	97					T	136700079	C	T	136700079	3	4	48	1	0	0	0	0	1	0	0	0	3379	797	28	3	469	3	CHRM2	7	136700079	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1621209	136700079	22438584	2050	6518										
SVOPL	136306	broad.mit.edu	37	chr7	138329467	138329467	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggggccagcactcaccaggaCgggctccaccagcttcccct	11	18	1	0	rs143599875		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:138329467C>T	ENST00000419765.3	-	8	817	c.784G>A	c.(784-786)Gtc>Atc	p.V262I	SVOPL_ENST00000288513.5_Missense_Mutation_p.V110I|SVOPL_ENST00000421622.1_Missense_Mutation_p.V142I|SVOPL_ENST00000436657.1_Missense_Mutation_p.V110I	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	262						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCACCAGGACGGGCTCCACC	0.637																																						ENST00000421622.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						c.(424-426)Gtc>Atc		SVOP-like		C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	37	36	37		784,328	-4.4	0.4	7	dbSNP_134	37	0,8600		0,0,4300	no	missense,missense	SVOPL	NM_001139456.1,NM_174959.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	262/493,110/341	138329467	1,13005	2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138329467C>T	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.784G>A	7.37:g.138329467C>T	ENSP00000405482:p.Val262Ile		Somatic				SVOPL_ENST00000288513.5_Missense_Mutation_p.V110I|SVOPL_ENST00000436657.1_Missense_Mutation_p.V110I|SVOPL_ENST00000419765.3_Missense_Mutation_p.V262I	p.V142I			WXS	Illumina GAIIx	Phase_I	Q8N434	SVOPL_HUMAN			5	632	-			262						Missense_Mutation	SNP	ENST00000419765.3	37	c.424G>A	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836636	0.32421	2.27E-4	0.0	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.73681	-0.77;-0.77;-0.77;0.29	5.06	-4.43	0.03568	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.542720	0.03356	N	0.196885	T	0.62134	0.2403	N	0.21194	0.64	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.50259	-0.8849	10	0.37606	T	0.19	-8.9996	13.2742	0.60178	0.0:0.7788:0.1023:0.1189	.	262;110	Q8N434;Q8N434-2	SVOPL_HUMAN;.	I	110;142;110;262	ENSP00000288513:V110I;ENSP00000412830:V142I;ENSP00000417018:V110I;ENSP00000405482:V262I	ENSP00000288513:V110I	V	-	1	0	SVOPL	137980007	0.000000	0.05858	0.417000	0.26559	0.975000	0.68041	-0.819000	0.04462	-1.507000	0.01803	-0.827000	0.03088	GTC		0.637	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		16	49	0	0	0	1	0	16	49					T	138329467	C	T	138329467	3	4	48	1	0	0	0	0	1	0	0	0	15439	536	19	1	726	1	SVOPL	7	138329467	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1629388	138329467	20809196	2051	6519										
KIAA1549	57670	broad.mit.edu	37	chr7	138601497	138601497	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggaagctgggccttaccagTtgtgatcagataggcatcgg	14	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:138601497T>G	ENST00000422774.1	-	2	2923	c.2875A>C	c.(2875-2877)Act>Cct	p.T959P	KIAA1549_ENST00000440172.1_Missense_Mutation_p.T959P|KIAA1549_ENST00000242365.4_Missense_Mutation_p.T909P			Q9HCM3	K1549_HUMAN	KIAA1549	959						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCCTTACCAGTTGTGATCAGA	0.537			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)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(2875-2877)Act>Cct		KIAA1549							50	49	49					7																	138601497		2017	4176	6193	SO:0001583	missense	57670					integral to membrane		g.chr7:138601497T>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.2875A>C	7.37:g.138601497T>G	ENSP00000416040:p.Thr959Pro		Somatic				KIAA1549_ENST00000242365.4_Missense_Mutation_p.T909P|KIAA1549_ENST00000422774.1_Missense_Mutation_p.T959P	p.T959P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	WXS	Illumina GAIIx	Phase_I	Q9HCM3	K1549_HUMAN			2	2923	-			959					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.2875A>C	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022648	0.54683	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.26660	1.72;1.73;1.73	4.37	2.72	0.32119	.	0.167773	0.39475	N	0.001359	T	0.16428	0.0395	L	0.29908	0.895	0.31734	N	0.63665	B;B	0.31227	0.314;0.27	B;B	0.32805	0.098;0.153	T	0.12863	-1.0531	10	0.87932	D	0	.	4.3715	0.11249	0.0:0.3874:0.0:0.6126	.	959;959	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	P	959;909;959	ENSP00000406661:T959P;ENSP00000242365:T909P;ENSP00000416040:T959P	ENSP00000242365:T909P	T	-	1	0	KIAA1549	138252037	1.000000	0.71417	0.983000	0.44433	0.966000	0.64601	2.971000	0.49248	0.845000	0.35118	0.459000	0.35465	ACT		0.537	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			8	26	0	0	0	1	0	8	26					G	138601497	T	G	138601497	3	3	48	1	0	0	0	0	1	0	0	0	8253	1725	60	4	3053	4	KIAA1549	7	138601497	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	272030	138601497	20537166	2052	6520										
ADCK2	90956	broad.mit.edu	37	chr7	140380894	140380894	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggaattcccgtggacttgaAaaggaagattgcacggctgg	14	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:140380894A>C	ENST00000072869.4	+	4	1440	c.1262A>C	c.(1261-1263)aAa>aCa	p.K421T	ADCK2_ENST00000476491.1_Missense_Mutation_p.K421T	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	421	Protein kinase.					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)					GTGGACTTGAAAAGGAAGATT	0.562																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(1261-1263)aAa>aCa		aarF domain containing kinase 2							131	110	117					7																	140380894		2203	4300	6503	SO:0001583	missense	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140380894A>C	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.1262A>C	7.37:g.140380894A>C	ENSP00000072869:p.Lys421Thr		Somatic				ADCK2_ENST00000476491.1_Missense_Mutation_p.K421T	p.K421T	NM_052853.3	NP_443085.2	WXS	Illumina GAIIx	Phase_I	Q7Z695	ADCK2_HUMAN			4	1440	+	Melanoma(164;0.00956)		421			Protein kinase.		Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	c.1262A>C	CCDS5861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.45|17.45	3.392743|3.392743	0.62066|0.62066	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000483369|ENST00000072869;ENST00000476491;ENST00000473512	.|T;T;T	.|0.30182	.|1.54;1.54;1.54	4.18|4.18	4.18|4.18	0.49190|0.49190	.|.	.|0.071028	.|0.56097	.|D	.|0.000032	T|T	0.35480|0.35480	0.0933|0.0933	M|M	0.67625|0.67625	2.065|2.065	0.42629|0.42629	D|D	0.993374|0.993374	.|B;P	.|0.49696	.|0.399;0.927	.|B;P	.|0.49451	.|0.287;0.611	T|T	0.21724|0.21724	-1.0237|-1.0237	5|10	.|0.46703	.|T	.|0.11	-14.6393|-14.6393	4.8077|4.8077	0.13328|0.13328	0.8248:0.0:0.1752:0.0|0.8248:0.0:0.1752:0.0	.|.	.|421;421	.|C9JE15;Q7Z695	.|.;ADCK2_HUMAN	D|T	258|421;421;61	.|ENSP00000072869:K421T;ENSP00000420512:K421T;ENSP00000420288:K61T	.|ENSP00000072869:K421T	E|K	+|+	3|2	2|0	ADCK2|ADCK2	140027363|140027363	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.762000|0.762000	0.43233|0.43233	4.839000|4.839000	0.62810|0.62810	1.749000|1.749000	0.51849|0.51849	0.459000|0.459000	0.35465|0.35465	GAA|AAA		0.562	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		23	52	0	0	0	1	0	23	52					C	140380894	A	C	140380894	3	2	48	1	0	0	0	0	1	0	0	0	289	14	1	4	1276	4	ADCK2	7	140380894	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1779397	140380894	18757769	2053	6521										
MRPS33	51650	broad.mit.edu	37	chr7	140710232	140710232	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcatcacctgtagagtccaaGaaatcggagcgtctgcatga	10	10	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:140710232G>T	ENST00000393008.3	-	2	357	c.202C>A	c.(202-204)Ctt>Att	p.L68I	MRPS33_ENST00000467334.1_Missense_Mutation_p.L58I|MRPS33_ENST00000472343.1_5'Flank|MRPS33_ENST00000496958.1_Missense_Mutation_p.L68I|MRPS33_ENST00000469351.1_Missense_Mutation_p.L68I|MRPS33_ENST00000324787.5_Missense_Mutation_p.L68I	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33	68					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(1)|kidney(1)	4	Melanoma(164;0.00956)					TAGAGTCCAAGAAATCGGAGC	0.413																																						ENST00000393008.3																			0				breast(2)|endometrium(1)|kidney(1)	4						c.(202-204)Ctt>Att		mitochondrial ribosomal protein S33							134	130	131					7																	140710232		2203	4300	6503	SO:0001583	missense	51650				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr7:140710232G>T	AF078858	CCDS5864.1	7q34	2012-09-13			ENSG00000090263	ENSG00000090263		"Mitochondrial ribosomal proteins / small subunits"	16634	protein-coding gene	gene with protein product		611993				11279123, 10810093	Standard	NM_016071		Approved	CGI-139	uc003vwe.4	Q9Y291	OTTHUMG00000157456	ENST00000393008.3:c.202C>A	7.37:g.140710232G>T	ENSP00000376732:p.Leu68Ile		Somatic				MRPS33_ENST00000469351.1_Missense_Mutation_p.L68I|MRPS33_ENST00000496958.1_Missense_Mutation_p.L68I|MRPS33_ENST00000324787.5_Missense_Mutation_p.L68I|MRPS33_ENST00000467334.1_Missense_Mutation_p.L58I	p.L68I	NM_016071.3	NP_057155.1	WXS	Illumina GAIIx	Phase_I	Q9Y291	RT33_HUMAN			2	357	-	Melanoma(164;0.00956)		68						Missense_Mutation	SNP	ENST00000393008.3	37	c.202C>A	CCDS5864.1	.	.	.	.	.	.	.	.	.	.	G	5.478	0.273144	0.10349	.	.	ENSG00000090263	ENST00000544013;ENST00000393008;ENST00000324787;ENST00000496958;ENST00000469351;ENST00000467334	.	.	.	5.1	-0.00987	0.13999	.	1.159410	0.06200	N	0.683063	T	0.36991	0.0987	L	0.54323	1.7	0.09310	N	1	B	0.27791	0.189	B	0.27380	0.079	T	0.34775	-0.9815	9	0.42905	T	0.14	-17.493	6.2568	0.20877	0.4156:0.1319:0.4525:0.0	.	68	Q9Y291	RT33_HUMAN	I	68;68;68;68;68;58	.	ENSP00000320567:L68I	L	-	1	0	MRPS33	140356701	0.213000	0.23551	0.011000	0.14972	0.198000	0.23893	0.070000	0.14573	0.132000	0.18615	0.467000	0.42956	CTT		0.413	MRPS33-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348878.1	NM_053035		23	38	1	0	4.7796e-09	1	5.70246e-09	23	38					T	140710232	G	T	140710232	3	4	48	1	0	0	0	0	1	0	0	0	9851	942	33	2	126	2	MRPS33	7	140710232	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	329338	140710232	18428431	2054	6522										
AGK	55750	broad.mit.edu	37	chr7	141321537	141321537	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttttctcttttagacataTtactgatgccacacttgcca	4	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141321537T>G	ENST00000355413.4	+	9	784	c.524T>G	c.(523-525)aTt>aGt	p.I175S	AGK_ENST00000535825.1_Missense_Mutation_p.I172S|AGK_ENST00000473247.1_Missense_Mutation_p.I147S	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	175	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)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TTTAGACATATTACTGATGCC	0.388																																						ENST00000355413.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17						c.(523-525)aTt>aGt		acylglycerol kinase							145	133	137					7																	141321537		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.chr7:141321537T>G	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.524T>G	7.37:g.141321537T>G	ENSP00000347581:p.Ile175Ser		Somatic				AGK_ENST00000473247.1_Missense_Mutation_p.I147S|AGK_ENST00000535825.1_Missense_Mutation_p.I172S	p.I175S	NM_018238.3	NP_060708.1	WXS	Illumina GAIIx	Phase_I	Q53H12	AGK_HUMAN			9	784	+	Melanoma(164;0.0171)		175			DAGKc.		Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	c.524T>G	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	T	16.96	3.265344	0.59431	.	.	ENSG00000006530	ENST00000355413;ENST00000473247;ENST00000535825	T;T;T	0.46819	2.44;2.44;0.86	4.61	3.42	0.39159	ATP-NAD kinase, PpnK-type, alpha/beta (1);Diacylglycerol kinase, catalytic domain (3);	0.267927	0.42294	D	0.000735	T	0.65585	0.2705	M	0.88570	2.965	0.52099	D	0.999947	P	0.37276	0.589	P	0.50896	0.653	T	0.68788	-0.5316	10	0.66056	D	0.02	.	10.5935	0.45323	0.0:0.0:0.1621:0.8379	.	175	Q53H12	AGK_HUMAN	S	175;147;172	ENSP00000347581:I175S;ENSP00000420776:I147S;ENSP00000444349:I172S	ENSP00000347581:I175S	I	+	2	0	AGK	140968006	0.998000	0.40836	0.219000	0.23793	0.930000	0.56654	4.809000	0.62591	0.862000	0.35528	0.459000	0.35465	ATT		0.388	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		3	38	0	0	0	1	0	3	38					G	141321537	T	G	141321537	3	3	48	1	0	0	0	0	1	0	0	0	383	1493	52	4	554	4	AGK	7	141321537	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	611305	141321537	17817126	2055	6523										
TAS2R3	50831	broad.mit.edu	37	chr7	141464029	141464029	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacactgggaattctggtcaAttgtttcattgagttggtca	10	7	4	1	rs146979075	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141464029A>C	ENST00000247879.2	+	1	133	c.71A>C	c.(70-72)aAt>aCt	p.N24T	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	24					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)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ATTCTGGTCAATTGTTTCATT	0.473																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(70-72)aAt>aCt		taste receptor, type 2, member 3							239	234	235					7																	141464029		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464029A>C	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.71A>C	7.37:g.141464029A>C	ENSP00000247879:p.Asn24Thr		Somatic				SSBP1_ENST00000465582.1_Intron	p.N24T	NM_016943.2	NP_058639.1	WXS	Illumina GAIIx	Phase_I	Q9NYW6	TA2R3_HUMAN			1	133	+	Melanoma(164;0.0171)		24					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.71A>C	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.514536	0.64522	.	.	ENSG00000127362	ENST00000247879	T	0.75477	-0.94	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.90205	0.6938	H	0.95470	3.675	0.37440	D	0.914369	D	0.89917	1.0	D	0.83275	0.996	D	0.94191	0.7441	10	0.87932	D	0	.	14.7743	0.69713	1.0:0.0:0.0:0.0	.	24	Q9NYW6	TA2R3_HUMAN	T	24	ENSP00000247879:N24T	ENSP00000247879:N24T	N	+	2	0	TAS2R3	141110498	1.000000	0.71417	0.912000	0.35992	0.324000	0.28378	4.195000	0.58400	2.371000	0.80710	0.533000	0.62120	AAT		0.473	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			54	114	0	0	0	1	0	54	114					C	141464029	A	C	141464029	3	2	48	1	0	0	0	0	1	0	0	0	15587	101	4	4	73	4	TAS2R3	7	141464029	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	142492	141464029	17674634	2056	6524										
CLEC5A	23601	broad.mit.edu	37	chr7	141631561	141631561	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgatccaacgccaccttttCtcttcacgatggtaaattaa	5	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141631561C>A	ENST00000546910.1	-	6	607	c.411G>T	c.(409-411)gaG>gaT	p.E137D	CLEC5A_ENST00000470595.1_5'UTR|CLEC5A_ENST00000551012.2_Missense_Mutation_p.E114D|CLEC5A_ENST00000438351.1_Missense_Mutation_p.E114D|CLEC5A_ENST00000439991.1_Missense_Mutation_p.E33D|MGAM_ENST00000497554.1_3'UTR	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	137	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GCCACCTTTTCTCTTCACGAT	0.388																																					GBM(154;1592 2613 3360 42983)	ENST00000546910.1																			0				endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10						c.(409-411)gaG>gaT		C-type lectin domain family 5, member A							185	170	175					7																	141631561		2203	4300	6503	SO:0001583	missense	23601				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity	g.chr7:141631561C>A		CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"C-type lectin domain containing"	2054	protein-coding gene	gene with protein product		604987	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.411G>T	7.37:g.141631561C>A	ENSP00000449999:p.Glu137Asp		Somatic				CLEC5A_ENST00000470595.1_5'UTR|CLEC5A_ENST00000438351.1_Missense_Mutation_p.E114D|MGAM_ENST00000497554.1_3'UTR|CLEC5A_ENST00000551012.2_Missense_Mutation_p.E114D|CLEC5A_ENST00000439991.1_Missense_Mutation_p.E33D	p.E137D	NM_013252.2	NP_037384.1	WXS	Illumina GAIIx	Phase_I	Q9NY25	CLC5A_HUMAN			6	607	-	Melanoma(164;0.0171)		137			C-type lectin.		Q52M11|Q9UKQ0	Missense_Mutation	SNP	ENST00000546910.1	37	c.411G>T	CCDS5870.1	.	.	.	.	.	.	.	.	.	.	C	4.043	0.005547	0.07866	.	.	ENSG00000258227	ENST00000546910;ENST00000551012;ENST00000439991;ENST00000438351	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.07	3.26	0.37387	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.830093	0.10799	N	0.632885	T	0.19005	0.0456	L	0.54323	1.7	0.22330	N	0.999195	B;B;B;B	0.10296	0.003;0.0;0.0;0.0	B;B;B;B	0.12837	0.008;0.0;0.0;0.0	T	0.21143	-1.0254	10	0.23302	T	0.38	-3.2016	6.538	0.22365	0.0:0.7207:0.1841:0.0952	.	114;114;136;137	C9JPR7;Q14DL9;Q9NY25-2;Q9NY25	.;.;.;CLC5A_HUMAN	D	137;114;33;114	ENSP00000449999:E137D;ENSP00000446890:E114D;ENSP00000395258:E33D;ENSP00000414897:E114D	ENSP00000265306:E137D	E	-	3	2	CLEC5A	141278030	0.010000	0.17322	0.620000	0.29132	0.623000	0.37688	0.589000	0.23939	1.493000	0.48517	-0.150000	0.13652	GAG		0.388	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347756.1	NM_013252		35	66	1	0	7.61001e-30	1	1.08524e-29	35	66					A	141631561	C	A	141631561	3	1	48	1	0	0	0	0	1	0	0	0	3521	912	32	2	163	2	CLEC5A	7	141631561	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	167532	141631561	17507102	2057	6525										
MGAM	8972	broad.mit.edu	37	chr7	141705362	141705362	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagctgaaaaaatttactaCtttggagattgtgctcagtg	10	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141705362C>A	ENST00000549489.2	+	2	127	c.32C>A	c.(31-33)aCt>aAt	p.T11N	MGAM_ENST00000475668.2_Missense_Mutation_p.T11N	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	11					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)	AAATTTACTACTTTGGAGATT	0.299																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(31-33)aCt>aAt		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						101	95	97					7																	141705362		1828	4088	5916	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.chr7:141705362C>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.32C>A	7.37:g.141705362C>A	ENSP00000447378:p.Thr11Asn		Somatic				MGAM_ENST00000549489.2_Missense_Mutation_p.T11N	p.T11N			WXS	Illumina GAIIx	Phase_I	O43451	MGA_HUMAN			2	86	+	Melanoma(164;0.0272)		11					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.32C>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527264	0.44969	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	T;D;T	0.89196	-0.73;-2.48;0.65	4.42	1.42	0.22433	.	1.169740	0.06342	N	0.708137	T	0.81795	0.4898	L	0.27053	0.805	0.09310	N	1	B	0.27498	0.18	B	0.22601	0.04	T	0.69518	-0.5124	10	0.62326	D	0.03	.	7.7388	0.28829	0.1746:0.4865:0.3389:0.0	.	11	O43451	MGA_HUMAN	N	11	ENSP00000419372:T11N;ENSP00000447378:T11N;ENSP00000417103:T11N	ENSP00000373973:T11N	T	+	2	0	MGAM	141351831	0.000000	0.05858	0.000000	0.03702	0.988000	0.76386	-2.761000	0.00786	0.300000	0.22699	0.655000	0.94253	ACT		0.299	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			5	4	1	0	0.0215528	1	0.0219788	5	4					A	141705362	C	A	141705362	3	1	48	1	0	0	0	0	1	0	0	0	9550	565	20	5	34	5	MGAM	7	141705362	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	73801	141705362	17433301	2058	6526										
MGAM	8972	broad.mit.edu	37	chr7	141727464	141727464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgcttggatttcacctcagtCgttacgaatatggaacctta	8	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141727464C>T	ENST00000549489.2	+	10	1245	c.1150C>T	c.(1150-1152)Cgt>Tgt	p.R384C	MGAM_ENST00000475668.2_Missense_Mutation_p.R384C	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	384	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCACCTCAGTCGTTACGAATA	0.453																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(1150-1152)Cgt>Tgt		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						63	61	62					7																	141727464		1859	4104	5963	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.chr7:141727464C>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.1150C>T	7.37:g.141727464C>T	ENSP00000447378:p.Arg384Cys		Somatic				MGAM_ENST00000549489.2_Missense_Mutation_p.R384C	p.R384C			WXS	Illumina GAIIx	Phase_I	O43451	MGA_HUMAN			10	1204	+	Melanoma(164;0.0272)		384			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.1150C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353232	0.82132	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.92911	-3.13	5.55	4.66	0.58398	Glycoside hydrolase, superfamily (1);	0.000000	0.53938	D	0.000045	D	0.97207	0.9087	H	0.96430	3.82	0.52501	D	0.999957	D	0.89917	1.0	D	0.97110	1.0	D	0.98143	1.0437	10	0.87932	D	0	.	13.5189	0.61555	0.1572:0.8428:0.0:0.0	.	384	O43451	MGA_HUMAN	C	384;384;261	ENSP00000447378:R384C	ENSP00000316431:R261C	R	+	1	0	MGAM	141373933	1.000000	0.71417	0.880000	0.34516	0.740000	0.42216	5.535000	0.67173	1.553000	0.49476	0.655000	0.94253	CGT		0.453	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			12	17	0	0	0	1	0	12	17					T	141727464	C	T	141727464	3	4	48	1	0	0	0	0	1	0	0	0	9550	884	31	1	1184	1	MGAM	7	141727464	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	22102	141727464	17411199	2059	6527										
KEL	3792	broad.mit.edu	37	chr7	142651036	142651036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaaccagtcgatggcggggGccatttccttagaggaggga	15	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142651036G>A	ENST00000355265.2	-	9	1406	c.932C>T	c.(931-933)gCc>gTc	p.A311V	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	311					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GATGGCGGGGGCCATTTCCTT	0.527																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(931-933)gCc>gTc		Kell blood group, metallo-endopeptidase							71	70	70					7																	142651036		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142651036G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.932C>T	7.37:g.142651036G>A	ENSP00000347409:p.Ala311Val		Somatic				KEL_ENST00000479768.2_5'UTR	p.A311V	NM_000420.2	NP_000411.1	WXS	Illumina GAIIx	Phase_I	P23276	KELL_HUMAN			9	1406	-	Melanoma(164;0.059)		311					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.932C>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091902	0.76756	.	.	ENSG00000197993	ENST00000355265	T	0.73363	-0.74	5.9	4.1	0.47936	Peptidase M13 (1);	0.102550	0.42964	D	0.000622	T	0.69233	0.3088	M	0.64170	1.965	0.40667	D	0.982187	P	0.44659	0.84	P	0.47162	0.54	T	0.69562	-0.5112	10	0.02654	T	1	-8.3465	8.1419	0.31089	0.1759:0.0:0.8241:0.0	.	311	P23276	KELL_HUMAN	V	311	ENSP00000347409:A311V	ENSP00000347409:A311V	A	-	2	0	KEL	142361158	0.998000	0.40836	1.000000	0.80357	0.898000	0.52572	3.041000	0.49807	1.525000	0.49052	0.478000	0.44815	GCC		0.527	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		32	66	0	0	0	1	0	32	66					A	142651036	G	A	142651036	3	1	48	1	0	0	0	0	1	0	0	0	8151	1203	42	3	1310	3	KEL	7	142651036	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	923572	142651036	16487627	2060	6528										
EPHA1	2041	broad.mit.edu	37	chr7	143098425	143098425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggaagcagcaccttctggaAcaagggccgtcggagctgaa	15	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:143098425A>G	ENST00000275815.3	-	3	510	c.424T>C	c.(424-426)Ttc>Ctc	p.F142L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	142	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ACCTTCTGGAACAAGGGCCGT	0.592																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(424-426)Ttc>Ctc		EPH receptor A1							86	88	87					7																	143098425		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143098425A>G	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.424T>C	7.37:g.143098425A>G	ENSP00000275815:p.Phe142Leu		Somatic					p.F142L	NM_005232.4	NP_005223.4	WXS	Illumina GAIIx	Phase_I	P21709	EPHA1_HUMAN			3	510	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	142					A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.424T>C	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.892121	0.91889	.	.	ENSG00000146904	ENST00000275815	T	0.12984	2.63	4.63	4.63	0.57726	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.56097	D	0.000021	T	0.37517	0.1006	M	0.79475	2.455	0.50813	D	0.99989	D	0.89917	1.0	D	0.83275	0.996	T	0.24799	-1.0150	10	0.72032	D	0.01	.	12.7699	0.57415	1.0:0.0:0.0:0.0	.	142	P21709	EPHA1_HUMAN	L	142	ENSP00000275815:F142L	ENSP00000275815:F142L	F	-	1	0	EPHA1	142808547	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.477000	0.73591	1.946000	0.56461	0.533000	0.62120	TTC		0.592	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			42	78	0	0	0	1	0	42	78					G	143098425	A	G	143098425	3	3	48	1	0	0	0	0	1	0	0	0	5167	43	2	4	2570	4	EPHA1	7	143098425	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	447389	143098425	16040238	2061	6529										
OR6B1	135946	broad.mit.edu	37	chr7	143701692	143701692	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgagttggtagactttatCctggcactggtcatcttcct	9	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:143701692C>A	ENST00000408922.2	+	1	671	c.603C>A	c.(601-603)atC>atA	p.I201I		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	201						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)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TAGACTTTATCCTGGCACTGG	0.458																																						ENST00000408922.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27						c.(601-603)atC>atA		olfactory receptor, family 6, subfamily B, member 1							191	183	186					7																	143701692		2010	4194	6204	SO:0001819	synonymous_variant	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701692C>A		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"GPCR / Class A : Olfactory receptors"	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.603C>A	7.37:g.143701692C>A			Somatic					p.I201I	NM_001005281.1	NP_001005281.1	WXS	Illumina GAIIx	Phase_I	O95007	OR6B1_HUMAN			1	671	+	Melanoma(164;0.0783)		201					A4D2G2|B9EH47|Q6IFP6|Q96R38	Silent	SNP	ENST00000408922.2	37	c.603C>A	CCDS43667.1																																																																																				0.458	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			25	92	1	0	1.55469e-16	1	2.07108e-16	25	92					A	143701692	C	A	143701692	2	1	48	1	0	0	0	0	0	0	0	1	11196	845	30	2		2	OR6B1	7	143701692	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	603267	143701692	15436971	2062	6530										
OR2A2	442361	broad.mit.edu	37	chr7	143807156	143807156	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtccctggtacatgaaattCtccttctaaggttgcccttc	7	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:143807156C>A	ENST00000408979.2	+	1	550	c.481C>A	c.(481-483)Ctc>Atc	p.L161I		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, 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)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ACATGAAATTCTCCTTCTAAG	0.532																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(481-483)Ctc>Atc		olfactory receptor, family 2, subfamily A, member 2							118	112	114					7																	143807156		2001	4174	6175	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807156C>A		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.481C>A	7.37:g.143807156C>A	ENSP00000386209:p.Leu161Ile		Somatic					p.L161I	NM_001005480.2	NP_001005480.2	WXS	Illumina GAIIx	Phase_I	Q6IF42	OR2A2_HUMAN			1	550	+	Melanoma(164;0.0783)		161					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.481C>A	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	C	9.899	1.206468	0.22205	.	.	ENSG00000221989	ENST00000408979	T	0.00158	8.65	3.61	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30658	U	0.009150	T	0.00328	0.0010	M	0.64567	1.98	0.09310	N	1	D	0.76494	0.999	D	0.79108	0.992	T	0.48490	-0.9031	10	0.48119	T	0.1	-23.9483	8.544	0.33410	0.0:0.881:0.0:0.119	.	161	Q6IF42	OR2A2_HUMAN	I	161	ENSP00000386209:L161I	ENSP00000386209:L161I	L	+	1	0	OR2A2	143438089	0.000000	0.05858	0.010000	0.14722	0.147000	0.21601	-0.811000	0.04500	0.846000	0.35142	0.609000	0.83330	CTC		0.532	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			33	59	1	0	1.08312e-15	1	1.43e-15	33	59					A	143807156	C	A	143807156	3	1	48	1	0	0	0	0	1	0	0	0	10986	913	32	2	483	2	OR2A2	7	143807156	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	105464	143807156	15331507	2063	6531										
ARHGEF5	7984	broad.mit.edu	37	chr7	144060321	144060321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagatattattctccctgcGaagagcatcctgcagagacc	8	13	1	3	rs578046612	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:144060321G>A	ENST00000056217.5	+	2	733	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	187					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)					TTCTCCCTGCGAAGAGCATCC	0.507													G|||	2	0.000399361	0	0	5008	,	,		34691	0		0	False		,,,				2504	0.002					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.(559-561)Gaa>Aaa		Rho guanine nucleotide exchange factor (GEF) 5							103	111	108					7																	144060321		2182	4265	6447	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.chr7:144060321G>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.559G>A	7.37:g.144060321G>A	ENSP00000056217:p.Glu187Lys		Somatic					p.E187K	NM_005435.3	NP_005426.2	WXS	Illumina GAIIx	Phase_I	Q12774	ARHG5_HUMAN			2	733	+	Melanoma(164;0.14)		187					A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.559G>A	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	G	8.445	0.851688	0.17034	.	.	ENSG00000050327	ENST00000056217	T	0.74421	-0.84	4.19	-1.26	0.09376	.	0.425065	0.17133	N	0.185749	T	0.51483	0.1677	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.25328	-1.0135	9	.	.	.	.	4.8559	0.13559	0.4163:0.1511:0.4326:0.0	.	187	Q12774	ARHG5_HUMAN	K	187	ENSP00000056217:E187K	.	E	+	1	0	ARHGEF5	143691254	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.482000	0.06544	-0.517000	0.06461	-1.172000	0.01736	GAA		0.507	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		40	117	0	0	0	1	0	40	117					A	144060321	G	A	144060321	3	1	48	1	0	0	0	0	1	0	0	0	909	1059	37	1	561	1	ARHGEF5	7	144060321	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	253165	144060321	15078342	2064	6532										
ARHGEF5	7984	broad.mit.edu	37	chr7	144075919	144075919	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatgatgaattggcactggaGaaagccgacgtggtgatggt	15	5	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:144075919G>T	ENST00000056217.5	+	14	4770	c.4596G>T	c.(4594-4596)gaG>gaT	p.E1532D	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.E454D	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1532	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)					TGGCACTGGAGAAAGCCGACG	0.577																																						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.(4594-4596)gaG>gaT		Rho guanine nucleotide exchange factor (GEF) 5							202	175	184					7																	144075919		2203	4300	6503	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.chr7:144075919G>T	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.4596G>T	7.37:g.144075919G>T	ENSP00000056217:p.Glu1532Asp		Somatic				ARHGEF5_ENST00000471847.2_Missense_Mutation_p.E454D	p.E1532D	NM_005435.3	NP_005426.2	WXS	Illumina GAIIx	Phase_I	Q12774	ARHG5_HUMAN			14	4770	+	Melanoma(164;0.14)		1532			SH3.		A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.4596G>T	CCDS34771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.05|15.05	2.717873|2.717873	0.48622|0.48622	.|.	.|.	ENSG00000050327|ENSG00000050327	ENST00000056217;ENST00000344879;ENST00000471847|ENST00000474817	T;T|.	0.46819|.	0.86;0.86|.	5.91|5.91	3.05|3.05	0.35203|0.35203	Src homology-3 domain (4);|.	0.111830|.	0.64402|.	D|.	0.000015|.	T|T	0.57315|0.57315	0.2045|0.2045	L|L	0.49256|0.49256	1.55|1.55	0.51233|0.51233	D|D	0.999918|0.999918	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.49273|0.49273	-0.8957|-0.8957	10|5	0.66056|.	D|.	0.02|.	-19.9547|-19.9547	9.6823|9.6823	0.40078|0.40078	0.2169:0.0:0.7831:0.0|0.2169:0.0:0.7831:0.0	.|.	333;1532|.	B3KQX6;Q12774|.	.;ARHG5_HUMAN|.	D|I	1532;333;454|732	ENSP00000056217:E1532D;ENSP00000418227:E454D|.	ENSP00000056217:E1532D|.	E|R	+|+	3|2	2|0	ARHGEF5|ARHGEF5	143706852|143706852	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.198000|0.198000	0.23893|0.23893	3.337000|3.337000	0.52120|0.52120	0.363000|0.363000	0.24346|0.24346	-0.302000|-0.302000	0.09304|0.09304	GAG|AGA		0.577	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		67	138	1	0	1.05635e-38	1	1.52265e-38	67	138					T	144075919	G	T	144075919	3	4	48	1	0	0	0	0	1	0	0	0	909	933	33	2	4646	2	ARHGEF5	7	144075919	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	15598	144075919	15062744	2065	6533										
CNTNAP2	26047	broad.mit.edu	37	chr7	146818172	146818172	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggtcattgagcgccaggggCggagcattaacctcactctg	13	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:146818172C>A	ENST00000361727.3	+	6	1372	c.856C>A	c.(856-858)Cgg>Agg	p.R286R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	286	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCGCCAGGGGCGGAGCATTAA	0.522										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.(856-858)Cgg>Agg		contactin associated protein-like 2							161	128	139					7																	146818172		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146818172C>A	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.856C>A	7.37:g.146818172C>A		HNSCC(39;0.1)	Somatic					p.R286R	NM_014141.5	NP_054860.1	WXS	Illumina GAIIx	Phase_I	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		6	1372	+	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)	286			Laminin G-like 1.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.856C>A	CCDS5889.1																																																																																				0.522	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			15	56	1	0	7.93312e-07	1	8.98086e-07	15	56					A	146818172	C	A	146818172	2	1	48	1	0	0	0	0	0	0	0	1	3649	759	27	5		5	CNTNAP2	7	146818172	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2742253	146818172	12320491	2066	6534										
CNTNAP2	26047	broad.mit.edu	37	chr7	147869473	147869473	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggccattgcaccagctatggAacaaactgtgaaaatggagg	12	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:147869473A>C	ENST00000361727.3	+	18	3429	c.2913A>C	c.(2911-2913)ggA>ggC	p.G971G	CNTNAP2_ENST00000538075.1_Silent_p.G30G	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	971	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			CCAGCTATGGAACAAACTGTG	0.473										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.(2911-2913)ggA>ggC		contactin associated protein-like 2							132	127	129					7																	147869473		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147869473A>C	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.2913A>C	7.37:g.147869473A>C		HNSCC(39;0.1)	Somatic				CNTNAP2_ENST00000538075.1_Silent_p.G30G	p.G971G	NM_014141.5	NP_054860.1	WXS	Illumina GAIIx	Phase_I	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		18	3429	+	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)	971			EGF-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.2913A>C	CCDS5889.1																																																																																				0.473	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			25	57	0	0	0	1	0	25	57					C	147869473	A	C	147869473	2	2	48	1	0	0	0	0	0	0	0	1	3649	233	9	4		4	CNTNAP2	7	147869473	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1051301	147869473	11269190	2067	6535										
EZH2	2146	broad.mit.edu	37	chr7	148543633	148543633	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatccttcgctgtttccattCttggtttaagatttccgttc	6	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:148543633C>A	ENST00000460911.1	-	3	263	c.175G>T	c.(175-177)Gaa>Taa	p.E59*	EZH2_ENST00000320356.2_Nonsense_Mutation_p.E59*|EZH2_ENST00000476773.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000483967.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000541220.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000478654.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000350995.2_Nonsense_Mutation_p.E59*			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	59	Interaction with DNMT1, DNMT3A and DNMT3B.|Interaction with EED. {ECO:0000250}.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TGTTTCCATTCTTGGTTTAAG	0.383			Mis		DLBCL																																	ENST00000320356.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(175-177)Gaa>Taa		enhancer of zeste homolog 2 (Drosophila)							150	126	134					7																	148543633		2203	4300	6503	SO:0001587	stop_gained	0				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148543633C>A		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.175G>T	7.37:g.148543633C>A	ENSP00000419711:p.Glu59*		Somatic				EZH2_ENST00000350995.2_Nonsense_Mutation_p.E59*|EZH2_ENST00000478654.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000476773.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000460911.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000483967.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000541220.1_Nonsense_Mutation_p.E59*	p.E59*	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	WXS	Illumina GAIIx	Phase_I	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		3	296	-	Melanoma(164;0.15)		59			Interaction with DNMT1, DNMT3A and DNMT3B.|Interaction with EED (By similarity).		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Nonsense_Mutation	SNP	ENST00000460911.1	37	c.175G>T	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	C	38	6.961662	0.97964	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	59	.	ENSP00000320147:E59X	E	-	1	0	EZH2	148174566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.256000	0.78350	2.882000	0.98803	0.655000	0.94253	GAA		0.383	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		21	29	1	0	1.28384e-07	1	1.48174e-07	21	29					A	148543633	C	A	148543633	4	1	48	1	0	0	0	0	0	1	0	0	5336	922	32	2	2152	2	EZH2	7	148543633	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	674160	148543633	10595030	2068	6536										
ZNF212	7988	broad.mit.edu	37	chr7	148947339	148947339	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctattttcagaccaccgaGatttcactctggacggtggt	9	11	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:148947339G>A	ENST00000335870.2	+	2	242	c.114G>A	c.(112-114)gaG>gaA	p.E38E		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	38					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)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AGACCACCGAGATTTCACTCT	0.542																																						ENST00000335870.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9						c.(112-114)gaG>gaA		zinc finger protein 212							56	59	58					7																	148947339		2203	4300	6503	SO:0001819	synonymous_variant	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148947339G>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.114G>A	7.37:g.148947339G>A			Somatic					p.E38E	NM_012256.3	NP_036388.2	WXS	Illumina GAIIx	Phase_I	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		2	242	+	Melanoma(164;0.15)		38					B2RCF4|Q13396|Q8N664	Silent	SNP	ENST00000335870.2	37	c.114G>A	CCDS5896.1																																																																																				0.542	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		24	30	0	0	0	1	0	24	30					A	148947339	G	A	148947339	2	1	48	1	0	0	0	0	0	0	0	1	17783	933	33	3		3	ZNF212	7	148947339	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	403706	148947339	10191324	2069	6537										
SSPO	23145	broad.mit.edu	37	chr7	149491951	149491951	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcccagtccccagatcagatTccctttggccacttacattc	5	16	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:149491951T>G	ENST00000378016.2	+	0	6152							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)			CAGATCAGATTCCCTTTGGCC	0.612																																						ENST00000378016.2																			0													SCO-spondin							51	60	57					7																	149491951		2083	4240	6323			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149491951T>G	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.149491951T>G			Somatic								WXS	Illumina GAIIx	Phase_I	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	6152	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.612	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				28	45	0	0	0	1	0	28	45					G	149491951	T	G	149491951	1	3	48	0	1	0	0	0	0	0	0	0	15204	1783	62	4		4	SSPO	7	149491951	RNA	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	544612	149491951	9646712	2070	6538										
SSPO	23145	broad.mit.edu	37	chr7	149495167	149495167	+	RNA	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctctgcagggcctggcagaGactgagcactggccccctgg	14	15	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:149495167G>T	ENST00000378016.2	+	0	6915							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)			GCCTGGCAGAGACTGAGCACT	0.667																																						ENST00000378016.2																			0													SCO-spondin							50	62	58					7																	149495167		2025	4176	6201			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149495167G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149495167G>T			Somatic								WXS	Illumina GAIIx	Phase_I	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	6915	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				23	34	1	0	1.85244e-09	1	2.22951e-09	23	34					T	149495167	G	T	149495167	1	4	48	0	1	0	0	0	0	0	0	0	15204	933	33	2		2	SSPO	7	149495167	RNA	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3216	149495167	9643496	2071	6539										
GIMAP8	155038	broad.mit.edu	37	chr7	150164222	150164222	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgggggatgacttgctgcaaGatttcattgaaaaaaacaaa	10	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:150164222G>T	ENST00000307271.3	+	2	1010	c.436G>T	c.(436-438)Gat>Tat	p.D146Y		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	146	AIG1-type G 1.					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)		CTTGCTGCAAGATTTCATTGA	0.438																																						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.(436-438)Gat>Tat		GTPase, IMAP family member 8							90	87	88					7																	150164222		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150164222G>T	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.436G>T	7.37:g.150164222G>T	ENSP00000305107:p.Asp146Tyr		Somatic					p.D146Y	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)	2	1010	+			146						Missense_Mutation	SNP	ENST00000307271.3	37	c.436G>T	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652442	0.47362	.	.	ENSG00000171115	ENST00000307271	T	0.09445	2.98	4.47	2.58	0.30949	AIG1 (1);	0.912935	0.09208	N	0.833641	T	0.34424	0.0897	M	0.89968	3.075	0.20074	N	0.999935	D	0.65815	0.995	D	0.65323	0.934	T	0.09335	-1.0679	10	0.72032	D	0.01	.	5.2558	0.15546	0.1167:0.2103:0.673:0.0	.	146	Q8ND71	GIMA8_HUMAN	Y	146	ENSP00000305107:D146Y	ENSP00000305107:D146Y	D	+	1	0	GIMAP8	149795155	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	0.004000	0.13106	0.477000	0.27464	0.650000	0.86243	GAT		0.438	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		24	44	1	0	2.21704e-12	1	2.79328e-12	24	44					T	150164222	G	T	150164222	3	4	48	1	0	0	0	0	1	0	0	0	6393	942	33	2	438	2	GIMAP8	7	150164222	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	669055	150164222	8974441	2072	6540										
GIMAP7	168537	broad.mit.edu	37	chr7	150217465	150217465	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcatcttgttcactcgcaaaGaagagttggagggccagagc	12	9	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:150217465G>T	ENST00000313543.4	+	2	560	c.403G>T	c.(403-405)Gaa>Taa	p.E135*		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	135	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACTCGCAAAGAAGAGTTGGA	0.527																																						ENST00000313543.4																			0				breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						c.(403-405)Gaa>Taa		GTPase, IMAP family member 7							76	70	72					7																	150217465		2203	4300	6503	SO:0001587	stop_gained	168537						GTP binding	g.chr7:150217465G>T	BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"GTPases, IMAP"	22404	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 7"					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.403G>T	7.37:g.150217465G>T	ENSP00000315474:p.Glu135*		Somatic					p.E135*	NM_153236.3	NP_694968.1	WXS	Illumina GAIIx	Phase_I	Q8NHV1	GIMA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	560	+			135						Nonsense_Mutation	SNP	ENST00000313543.4	37	c.403G>T	CCDS5903.1	.	.	.	.	.	.	.	.	.	.	G	36	5.660254	0.96734	.	.	ENSG00000179144	ENST00000313543	.	.	.	5.09	5.09	0.68999	.	0.188486	0.44902	D	0.000408	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.8816	0.63686	0.0:0.0:1.0:0.0	.	.	.	.	X	135	.	ENSP00000315474:E135X	E	+	1	0	GIMAP7	149848398	1.000000	0.71417	0.993000	0.49108	0.681000	0.39784	6.951000	0.75983	2.672000	0.90937	0.655000	0.94253	GAA		0.527	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349277.1	NM_153236		12	47	1	0	2.27111e-07	1	2.60515e-07	12	47					T	150217465	G	T	150217465	4	4	48	1	0	0	0	0	0	1	0	0	6392	943	33	2	405	2	GIMAP7	7	150217465	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	53243	150217465	8921198	2073	6541										
NOS3	4846	broad.mit.edu	37	chr7	150692348	150692348	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccaagttccctcgtgtgaaGaactgggaggtggggagcat	15	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:150692348G>T	ENST00000484524.1	+	2	216	c.216G>T	c.(214-216)aaG>aaT	p.K72N	NOS3_ENST00000467517.1_Missense_Mutation_p.K72N|NOS3_ENST00000297494.3_Missense_Mutation_p.K72N|NOS3_ENST00000461406.1_5'UTR	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)		CTCGTGTGAAGAACTGGGAGG	0.642																																						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.(214-216)aaG>aaT		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						40	42	41					7																	150692348		2201	4297	6498	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.chr7:150692348G>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	ENST00000484524.1:c.216G>T	7.37:g.150692348G>T	ENSP00000420215:p.Lys72Asn		Somatic				NOS3_ENST00000484524.1_Missense_Mutation_p.K72N|NOS3_ENST00000461406.1_5'UTR|NOS3_ENST00000467517.1_Missense_Mutation_p.K72N	p.K72N	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)	3	573	+	all_neural(206;0.219)		72					Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.216G>T	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	g	18.55	3.648726	0.67358	.	.	ENSG00000164867	ENST00000297494;ENST00000484524;ENST00000467517	T;T;T	0.25414	1.8;1.8;1.8	4.2	4.2	0.49525	Nitric oxide synthase, oxygenase domain (1);	0.126992	0.34046	N	0.004314	T	0.31857	0.0810	L	0.41824	1.3	0.42278	D	0.99208	P;P;P;P	0.47677	0.551;0.551;0.7;0.899	B;B;B;P	0.50537	0.07;0.07;0.41;0.643	T	0.14783	-1.0460	10	0.87932	D	0	-11.2747	14.422	0.67190	0.0:0.0:1.0:0.0	.	72;72;72;72	A0S0A6;E9PFR2;A0S0A8;P29474	.;.;.;NOS3_HUMAN	N	72	ENSP00000297494:K72N;ENSP00000420215:K72N;ENSP00000420551:K72N	ENSP00000297494:K72N	K	+	3	2	NOS3	150323281	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.880000	0.75578	2.035000	0.60131	0.651000	0.88453	AAG		0.642	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		12	29	1	0	5.50884e-06	1	6.10489e-06	12	29					T	150692348	G	T	150692348	3	4	48	1	0	0	0	0	1	0	0	0	10553	933	33	2	222	2	NOS3	7	150692348	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	474883	150692348	8446315	2074	6542										
NOS3	4846	broad.mit.edu	37	chr7	150698909	150698909	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacaccttcctctcccgcagCgccgtgaagatctccgcctc	7	20	2	2	rs370911240		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:150698909C>T	ENST00000484524.1	+	12	1503	c.1503C>T	c.(1501-1503)aaC>aaT	p.N501N	NOS3_ENST00000467517.1_Splice_Site_p.N501N|NOS3_ENST00000297494.3_Splice_Site_p.N501N|NOS3_ENST00000461406.1_Splice_Site_p.N295N	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)		TCTCCCGCAGCGCCGTGAAGA	0.642																																						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.e13-1		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	C	,,,	0,4406		0,0,2203	52	50	50		1503,1503,1503,1503	-5.4	0.2	7		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	NOS3	NM_000603.4,NM_001160109.1,NM_001160110.1,NM_001160111.1	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	501/1204,501/597,501/615,501/630	150698909	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150698909C>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	ENST00000484524.1:c.1503-1C>T	7.37:g.150698909C>T			Somatic				NOS3_ENST00000484524.1_Splice_Site_p.N501_splice|NOS3_ENST00000461406.1_Splice_Site_p.N295_splice|NOS3_ENST00000467517.1_Splice_Site_p.N501_splice	p.N501_splice	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)	13	1860	+	all_neural(206;0.219)		501			Calmodulin-binding (Potential).		Q495E5	Splice_Site	SNP	ENST00000484524.1	37	c.1502_splice	CCDS55182.1																																																																																				0.642	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603	Silent	19	22	0	0	0	1	0	19	22					T	150698909	C	T	150698909	5	4	48	1	0	0	0	0	0	0	1	0	10553	782	27	1	1549	1	NOS3	7	150698909	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	6561	150698909	8439754	2075	6543										
ABCB8	11194	broad.mit.edu	37	chr7	150739111	150739111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgggaagctggaagcttccGatgaagaggtgtacacagcc	14	8	0	2	rs144722322		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:150739111G>A	ENST00000297504.6	+	15	1798	c.1732G>A	c.(1732-1734)Gat>Aat	p.D578N	ABCB8_ENST00000358849.4_Missense_Mutation_p.D561N|ABCB8_ENST00000498578.1_Missense_Mutation_p.D561N|ABCB8_ENST00000542328.1_Missense_Mutation_p.D473N|ABCB8_ENST00000356058.4_3'UTR			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	578	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.D561N(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	GGAAGCTTCCGATGAAGAGGT	0.577													G|||	1	0.000199681	0	0	5008	,	,		19175	0		0.001	False		,,,				2504	0					ENST00000358849.4																			1	Substitution - Missense(1)	p.D561N(1)	lung(1)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1681-1683)Gat>Aat		ATP-binding cassette, sub-family B (MDR/TAP), member 8		G	ASN/ASP	0,4406		0,0,2203	61	63	63		1681	4	0.3	7	dbSNP_134	63	6,8594	5.0+/-18.6	0,6,4294	yes	missense	ABCB8	NM_007188.3	23	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	possibly-damaging	561/719	150739111	6,13000	2203	4300	6503	SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150739111G>A	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"ATP binding cassette transporters / subfamily B"	49	protein-coding gene	gene with protein product	"mitochondrial ABC protein"	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1732G>A	7.37:g.150739111G>A	ENSP00000297504:p.Asp578Asn		Somatic				ABCB8_ENST00000542328.1_Missense_Mutation_p.D473N|ABCB8_ENST00000498578.1_Missense_Mutation_p.D561N|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.D578N	p.D561N	NM_007188.3	NP_009119.2	WXS	Illumina GAIIx	Phase_I	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	14	1774	+			578			ABC transporter.		A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.1681G>A		.	.	.	.	.	.	.	.	.	.	G	16.31	3.087583	0.55968	0.0	6.98E-4	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79	4.86	3.97	0.46021	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.91355	0.7273	M	0.69463	2.115	0.80722	D	1	P;D;D;P	0.53312	0.759;0.959;0.959;0.949	B;P;P;P	0.51777	0.396;0.679;0.679;0.55	D	0.89791	0.3968	10	0.34782	T	0.22	-0.7636	12.273	0.54716	0.0:0.0:0.8293:0.1707	.	473;561;578;561	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.;.;ABCB8_HUMAN;.	N	561;544;578;473;561	ENSP00000351717:D561N;ENSP00000297504:D578N;ENSP00000438776:D473N;ENSP00000418271:D561N	ENSP00000297504:D578N	D	+	1	0	ABCB8	150370044	1.000000	0.71417	0.270000	0.24601	0.003000	0.03518	6.489000	0.73641	1.253000	0.44018	-0.314000	0.08810	GAT		0.577	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		30	52	0	0	0	1	0	30	52					A	150739111	G	A	150739111	3	1	48	1	0	0	0	0	1	0	0	0	47	1058	37	1	1735	1	ABCB8	7	150739111	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	40202	150739111	8399552	2076	6544										
MLL3	58508	broad.mit.edu	37	chr7	151873887	151873887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cactggggccagcagtttctCgattggttcttttctcaaat	9	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:151873887C>T	ENST00000262189.6	-	38	8869	c.8651G>A	c.(8650-8652)cGa>cAa	p.R2884Q	KMT2C_ENST00000355193.2_Missense_Mutation_p.R2884Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2884					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)										AGCAGTTTCTCGATTGGTTCT	0.438																																						ENST00000355193.2																			0											c.(8650-8652)cGa>cAa		lysine (K)-specific methyltransferase 2C							97	95	95					7																	151873887		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151873887C>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.8651G>A	7.37:g.151873887C>T	ENSP00000262189:p.Arg2884Gln		Somatic				KMT2C_ENST00000262189.6_Missense_Mutation_p.R2884Q	p.R2884Q			WXS	Illumina GAIIx	Phase_I					38	8869	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.8651G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	0.639	-0.814018	0.02798	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83335	-1.71;-1.71	4.91	-7.08	0.01558	.	1.064460	0.07524	N	0.911115	T	0.52468	0.1736	N	0.05124	-0.11	0.09310	N	1	B;B;B	0.12013	0.005;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.53535	-0.8425	10	0.02654	T	1	.	3.2656	0.06864	0.2134:0.1097:0.1075:0.5695	.	2884;1945;2884	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	Q	2884	ENSP00000262189:R2884Q;ENSP00000347325:R2884Q	ENSP00000262189:R2884Q	R	-	2	0	MLL3	151504820	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.224000	0.17738	-1.403000	0.02053	-2.093000	0.00369	CGA		0.438	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			18	37	0	0	0	1	0	18	37					T	151873887	C	T	151873887	3	4	48	1	0	0	0	0	1	0	0	0	9631	884	31	1	6172	1	MLL3	7	151873887	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1134776	151873887	7264776	2077	6545										
MLL3	58508	broad.mit.edu	37	chr7	151945099	151945099	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggcatgatgtttccagcaGaggaactaagagctgaaggg	14	6	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:151945099G>T	ENST00000262189.6	-	14	2638	c.2420C>A	c.(2419-2421)tCt>tAt	p.S807Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.S807Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	807					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)										GTTTCCAGCAGAGGAACTAAG	0.443																																						ENST00000355193.2																			0											c.(2419-2421)tCt>tAt		lysine (K)-specific methyltransferase 2C							468	421	437					7																	151945099		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151945099G>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.2420C>A	7.37:g.151945099G>T	ENSP00000262189:p.Ser807Tyr		Somatic				KMT2C_ENST00000262189.6_Missense_Mutation_p.S807Y	p.S807Y			WXS	Illumina GAIIx	Phase_I					14	2638	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2420C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	8.171	0.791788	0.16258	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83992	-1.79;-1.79	5.57	4.68	0.58851	.	0.715699	0.11911	N	0.517648	T	0.79724	0.4495	L	0.29908	0.895	0.80722	D	1	P	0.49447	0.924	P	0.48030	0.564	T	0.76435	-0.2960	10	0.54805	T	0.06	.	11.4145	0.49943	0.0:0.1365:0.7215:0.142	.	807	Q8NEZ4	MLL3_HUMAN	Y	807	ENSP00000262189:S807Y;ENSP00000347325:S807Y	ENSP00000262189:S807Y	S	-	2	0	MLL3	151576032	0.998000	0.40836	0.217000	0.23759	0.077000	0.17291	2.445000	0.44899	1.318000	0.45170	-0.182000	0.12963	TCT		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			38	405	1	0	2.59497e-14	1	3.37688e-14	38	405					T	151945099	G	T	151945099	3	4	48	1	0	0	0	0	1	0	0	0	9631	942	33	2	12499	2	MLL3	7	151945099	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	71212	151945099	7193564	2078	6546										
MLL3	58508	broad.mit.edu	37	chr7	151945640	151945640	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcagaagacattttcaggtCttcactatcaacttcattag	5	9	6	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:151945640C>A	ENST00000262189.6	-	14	2097	c.1879G>T	c.(1879-1881)Gac>Tac	p.D627Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.D627Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	627					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)										ATTTTCAGGTCTTCACTATCA	0.338																																						ENST00000355193.2																			0											c.(1879-1881)Gac>Tac		lysine (K)-specific methyltransferase 2C							50	48	49					7																	151945640		2203	4298	6501	SO:0001583	missense	58508							g.chr7:151945640C>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.1879G>T	7.37:g.151945640C>A	ENSP00000262189:p.Asp627Tyr		Somatic				KMT2C_ENST00000262189.6_Missense_Mutation_p.D627Y	p.D627Y			WXS	Illumina GAIIx	Phase_I					14	2097	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1879G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	1.874	-0.459634	0.04508	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83163	-1.69;-1.69	5.23	-0.651	0.11454	.	0.469078	0.17778	N	0.162322	T	0.61135	0.2323	N	0.08118	0	0.80722	D	1	B	0.22541	0.071	B	0.09377	0.004	T	0.48445	-0.9035	10	0.66056	D	0.02	.	5.6626	0.17676	0.0:0.5439:0.1927:0.2635	.	627	Q8NEZ4	MLL3_HUMAN	Y	627	ENSP00000262189:D627Y;ENSP00000347325:D627Y	ENSP00000262189:D627Y	D	-	1	0	MLL3	151576573	0.996000	0.38824	0.055000	0.19348	0.030000	0.12068	0.403000	0.20982	0.029000	0.15352	-0.312000	0.09012	GAC		0.338	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	33	1	0	0.00024832	1	0.000265255	4	33					A	151945640	C	A	151945640	3	1	48	1	0	0	0	0	1	0	0	0	9631	913	32	2	13040	2	MLL3	7	151945640	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	541	151945640	7193023	2079	6547										
MLL3	58508	broad.mit.edu	37	chr7	151970902	151970902	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgatacatctgggtacatttCtcttcacagcatttgatagt	7	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:151970902C>A	ENST00000262189.6	-	7	1118	c.900G>T	c.(898-900)gaG>gaT	p.E300D	KMT2C_ENST00000355193.2_Missense_Mutation_p.E300D	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	300					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)										GGGTACATTTCTCTTCACAGC	0.428																																						ENST00000355193.2																			0											c.(898-900)gaG>gaT		lysine (K)-specific methyltransferase 2C							126	121	123					7																	151970902		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151970902C>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.900G>T	7.37:g.151970902C>A	ENSP00000262189:p.Glu300Asp		Somatic				KMT2C_ENST00000262189.6_Missense_Mutation_p.E300D	p.E300D			WXS	Illumina GAIIx	Phase_I					7	1118	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.900G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920140	0.52653	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.71341	-0.56;-0.56	4.87	2.96	0.34315	Zinc finger, PHD-type (1);	0.000000	0.44902	D	0.000401	T	0.75102	0.3804	L	0.39147	1.195	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.73842	-0.3855	10	0.44086	T	0.13	.	10.8711	0.46883	0.0:0.7925:0.1324:0.0752	.	300	Q8NEZ4	MLL3_HUMAN	D	300	ENSP00000262189:E300D;ENSP00000347325:E300D	ENSP00000262189:E300D	E	-	3	2	MLL3	151601835	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	2.030000	0.41108	1.139000	0.42245	0.650000	0.86243	GAG		0.428	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			14	93	1	0	3.27435e-08	1	3.83577e-08	14	93					A	151970902	C	A	151970902	3	1	48	1	0	0	0	0	1	0	0	0	9631	912	32	2	14047	2	MLL3	7	151970902	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	25262	151970902	7167761	2080	6548										
XRCC2	7516	broad.mit.edu	37	chr7	152346402	152346402	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgttaggtgataaagcatTtctgtttttcctgttccttc	8	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:152346402T>G	ENST00000359321.1	-	3	253	c.168A>C	c.(166-168)gaA>gaC	p.E56D	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	56					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GATAAAGCATTTCTGTTTTTC	0.373								Homologous recombination																														ENST00000359321.1																			0				NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11						c.(166-168)gaA>gaC	Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 2							98	84	89					7																	152346402		2203	4300	6503	SO:0001583	missense	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152346402T>G	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"RAD51-like"	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.168A>C	7.37:g.152346402T>G	ENSP00000352271:p.Glu56Asp		Somatic				XRCC2_ENST00000495707.1_5'UTR	p.E56D	NM_005431.1	NP_005422.1	WXS	Illumina GAIIx	Phase_I	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	3	253	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	56					B2R925	Missense_Mutation	SNP	ENST00000359321.1	37	c.168A>C	CCDS5933.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937024	0.73557	.	.	ENSG00000196584	ENST00000359321	T	0.39229	1.09	5.5	3.15	0.36227	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56077	0.1961	M	0.73598	2.24	0.52501	D	0.999953	P	0.46859	0.885	P	0.58130	0.833	T	0.55023	-0.8205	10	0.72032	D	0.01	-27.6475	8.1746	0.31275	0.0:0.3068:0.0:0.6932	.	56	O43543	XRCC2_HUMAN	D	56	ENSP00000352271:E56D	ENSP00000352271:E56D	E	-	3	2	XRCC2	151977335	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.855000	0.39378	0.401000	0.25424	0.482000	0.46254	GAA		0.373	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		25	36	0	0	0	1	0	25	36					G	152346402	T	G	152346402	3	3	48	1	0	0	0	0	1	0	0	0	17468	1838	64	4	678	4	XRCC2	7	152346402	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	375500	152346402	6792261	2081	6549										
DPP6	1804	broad.mit.edu	37	chr7	154593165	154593165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctatcacatcacggtgtcctCgtcccaggtaagtcctgcta	8	14	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:154593165C>T	ENST00000377770.3	+	13	1541	c.1400C>T	c.(1399-1401)tCg>tTg	p.S467L	DPP6_ENST00000332007.3_Missense_Mutation_p.S405L|DPP6_ENST00000404039.1_Missense_Mutation_p.S403L|DPP6_ENST00000427557.1_Missense_Mutation_p.S360L			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	467					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ACGGTGTCCTCGTCCCAGGTA	0.537																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1207-1209)tCg>tTg		dipeptidyl-peptidase 6							43	41	42					7																	154593165		1941	4131	6072	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154593165C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1400C>T	7.37:g.154593165C>T	ENSP00000367001:p.Ser467Leu		Somatic				DPP6_ENST00000427557.1_Missense_Mutation_p.S360L|DPP6_ENST00000377770.3_Missense_Mutation_p.S467L|DPP6_ENST00000332007.3_Missense_Mutation_p.S405L	p.S403L	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)		13	1795	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	467						Missense_Mutation	SNP	ENST00000377770.3	37	c.1208C>T		.	.	.	.	.	.	.	.	.	.	c	6.451	0.451415	0.12223	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.12	4.25	0.50352	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.392462	0.28171	N	0.016334	T	0.15219	0.0367	N	0.20357	0.565	0.09310	N	1	B;P;P;P	0.51240	0.074;0.881;0.943;0.903	B;B;B;B	0.32533	0.06;0.057;0.147;0.095	T	0.10800	-1.0614	10	0.18710	T	0.47	-7.4405	13.5136	0.61528	0.0:0.9238:0.0:0.0762	.	360;405;467;403	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	L	403;467;405;360	ENSP00000385578:S403L;ENSP00000367001:S467L;ENSP00000328226:S405L;ENSP00000397303:S360L	ENSP00000328226:S405L	S	+	2	0	DPP6	154224098	0.009000	0.17119	0.011000	0.14972	0.009000	0.06853	1.148000	0.31614	1.158000	0.42547	-0.119000	0.15052	TCG		0.537	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		5	7	0	0	0	1	0	5	7					T	154593165	C	T	154593165	3	4	48	1	0	0	0	0	1	0	0	0	4732	893	31	1	1566	1	DPP6	7	154593165	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2246763	154593165	4545498	2082	6550										
DPP6	1804	broad.mit.edu	37	chr7	154667694	154667694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgatggtgagcagccacggCgcggtggtggtaaagtgtga	19	6	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:154667694C>T	ENST00000377770.3	+	20	2103	c.1962C>T	c.(1960-1962)ggC>ggT	p.G654G	DPP6_ENST00000332007.3_Silent_p.G592G|DPP6_ENST00000404039.1_Silent_p.G590G|DPP6_ENST00000427557.1_Silent_p.G547G			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	654					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCAGCCACGGCGCGGTGGTGG	0.647																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1768-1770)ggC>ggT		dipeptidyl-peptidase 6							29	36	33					7																	154667694		2076	4202	6278	SO:0001819	synonymous_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154667694C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1962C>T	7.37:g.154667694C>T			Somatic				DPP6_ENST00000427557.1_Silent_p.G547G|DPP6_ENST00000377770.3_Silent_p.G654G|DPP6_ENST00000332007.3_Silent_p.G592G	p.G590G	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	2357	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	654						Silent	SNP	ENST00000377770.3	37	c.1770C>T																																																																																					0.647	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		13	23	0	0	0	1	0	13	23					T	154667694	C	T	154667694	2	4	48	1	0	0	0	0	0	0	0	1	4732	755	27	1		1	DPP6	7	154667694	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	74529	154667694	4470969	2083	6551										
RNF32	140545	broad.mit.edu	37	chr7	156450909	156450909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcaaacccgagtgatacacGatggggcccgcctgttcaga	11	12	2	2	rs374778058		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:156450909G>A	ENST00000405335.1	+	7	947	c.538G>A	c.(538-540)Gat>Aat	p.D180N	RNF32_ENST00000392741.2_Missense_Mutation_p.D180N|RNF32_ENST00000317955.5_Missense_Mutation_p.D180N|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392743.2_Missense_Mutation_p.D180N|RNF32_ENST00000432459.2_Missense_Mutation_p.D180N|RNF32_ENST00000311822.8_Missense_Mutation_p.D180N|RNF32_ENST00000343665.4_Missense_Mutation_p.D156N			Q9H0A6	RNF32_HUMAN	ring finger protein 32	180						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGTGATACACGATGGGGCCCG	0.473																																						ENST00000392741.2																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(538-540)Gat>Aat		ring finger protein 32		G	ASN/ASP,ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	50	55	53		538,538,538	3.9	0	7		53	0,8600		0,0,4300	no	missense,missense,missense	RNF32	NM_001184996.1,NM_001184997.1,NM_030936.3	23,23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	180/363,180/363,180/363	156450909	1,13005	2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156450909G>A		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"RING-type (C3HC4) zinc fingers"	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.538G>A	7.37:g.156450909G>A	ENSP00000385285:p.Asp180Asn		Somatic				RNF32_ENST00000405335.1_Missense_Mutation_p.D180N|RNF32_ENST00000343665.4_Missense_Mutation_p.D156N|RNF32_ENST00000392743.2_Missense_Mutation_p.D180N|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000317955.5_Missense_Mutation_p.D180N|RNF32_ENST00000311822.8_Missense_Mutation_p.D180N|RNF32_ENST00000432459.2_Missense_Mutation_p.D180N	p.D180N			WXS	Illumina GAIIx	Phase_I	Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	5	626	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	180					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.538G>A	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440672	0.63067	2.27E-4	0.0	ENSG00000105982	ENST00000404282;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665	T;T;T;T;T;T;T;T	0.47869	0.84;2.15;2.15;2.15;1.78;2.15;0.83;1.8	4.81	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71870	0.975;0.975;0.974	T	0.72427	-0.4297	10	0.87932	D	0	-24.5482	13.4542	0.61189	0.0766:0.0:0.9234:0.0	.	180;180;180	Q9H0A6-4;G5E940;Q9H0A6	.;.;RNF32_HUMAN	N	180;180;180;180;180;180;180;156	ENSP00000385815:D180N;ENSP00000405588:D180N;ENSP00000315950:D180N;ENSP00000385285:D180N;ENSP00000308894:D180N;ENSP00000376499:D180N;ENSP00000376497:D180N;ENSP00000341185:D156N	ENSP00000308894:D180N	D	+	1	0	RNF32	156143670	1.000000	0.71417	0.009000	0.14445	0.316000	0.28119	6.536000	0.73842	1.145000	0.42336	0.650000	0.86243	GAT		0.473	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		17	33	0	0	0	1	0	17	33					A	156450909	G	A	156450909	3	1	48	1	0	0	0	0	1	0	0	0	13503	1058	37	1	556	1	RNF32	7	156450909	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1783215	156450909	2687754	2084	6552										
RNF32	140545	broad.mit.edu	37	chr7	156451252	156451252	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccaagttaagaaaaaaattCtttgaaaaaaaggtaggtaa	8	3	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:156451252C>A	ENST00000405335.1	+	8	1081	c.672C>A	c.(670-672)ttC>ttA	p.F224L	RNF32_ENST00000392741.2_Missense_Mutation_p.F224L|RNF32_ENST00000317955.5_Missense_Mutation_p.F224L|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392743.2_Missense_Mutation_p.F224L|RNF32_ENST00000432459.2_Missense_Mutation_p.F224L|RNF32_ENST00000311822.8_Missense_Mutation_p.F224L|RNF32_ENST00000343665.4_Missense_Mutation_p.F200L			Q9H0A6	RNF32_HUMAN	ring finger protein 32	224						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAAAAAATTCTTTGAAAAAA	0.423																																						ENST00000392741.2																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(670-672)ttC>ttA		ring finger protein 32							75	79	78					7																	156451252		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156451252C>A		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"RING-type (C3HC4) zinc fingers"	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.672C>A	7.37:g.156451252C>A	ENSP00000385285:p.Phe224Leu		Somatic				RNF32_ENST00000405335.1_Missense_Mutation_p.F224L|RNF32_ENST00000343665.4_Missense_Mutation_p.F200L|RNF32_ENST00000392743.2_Missense_Mutation_p.F224L|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000317955.5_Missense_Mutation_p.F224L|RNF32_ENST00000311822.8_Missense_Mutation_p.F224L|RNF32_ENST00000432459.2_Missense_Mutation_p.F224L	p.F224L			WXS	Illumina GAIIx	Phase_I	Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	6	760	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	224					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.672C>A	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.862689	0.71949	.	.	ENSG00000105982	ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665	T;T;T;T;T;T;T	0.56275	2.04;2.04;2.04;1.51;2.04;0.47;1.83	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.70351	0.3214	M	0.82056	2.57	0.80722	D	1	D;P;D	0.89917	1.0;0.61;0.997	D;B;P	0.85130	0.997;0.258;0.856	T	0.72620	-0.4238	9	.	.	.	-28.7867	9.3494	0.38129	0.1453:0.7771:0.0:0.0776	.	224;224;224	Q9H0A6-4;G5E940;Q9H0A6	.;.;RNF32_HUMAN	L	224;224;224;224;224;224;200	ENSP00000405588:F224L;ENSP00000315950:F224L;ENSP00000385285:F224L;ENSP00000308894:F224L;ENSP00000376499:F224L;ENSP00000376497:F224L;ENSP00000341185:F200L	.	F	+	3	2	RNF32	156144013	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	1.286000	0.33273	2.369000	0.80426	0.650000	0.86243	TTC		0.423	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		14	25	1	0	3.27435e-08	1	3.83577e-08	14	25					A	156451252	C	A	156451252	3	1	48	1	0	0	0	0	1	0	0	0	13503	912	32	2	694	2	RNF32	7	156451252	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	343	156451252	2687411	2085	6553										
CSMD1	64478	broad.mit.edu	37	chr8	2796122	2796122	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagggctataccactgtacaGactgtgttcagagttgtgtc	12	8	1	2	rs372725413		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:2796122G>T	ENST00000520002.1	-	71	11238	c.10683C>A	c.(10681-10683)gtC>gtA	p.V3561V	CSMD1_ENST00000542608.1_Silent_p.V3383V|CSMD1_ENST00000400186.3_Silent_p.V3384V|CSMD1_ENST00000537824.1_Silent_p.V3560V|CSMD1_ENST00000602557.1_Silent_p.V3561V|CSMD1_ENST00000602723.1_Silent_p.V3384V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3561						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)		CCACTGTACAGACTGTGTTCA	0.468																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(10681-10683)gtC>gtA		CUB and Sushi multiple domains 1							200	187	191					8																	2796122		1982	4156	6138	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2796122G>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.10683C>A	8.37:g.2796122G>T			Somatic				CSMD1_ENST00000602723.1_Silent_p.V3384V|CSMD1_ENST00000400186.3_Silent_p.V3384V|CSMD1_ENST00000602557.1_Silent_p.V3561V|CSMD1_ENST00000537824.1_Silent_p.V3560V|CSMD1_ENST00000542608.1_Silent_p.V3383V	p.V3561V			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)	71	11238	-		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)	3561					Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.10683C>A		.	.	.	.	.	.	.	.	.	.	G	8.556	0.876604	0.17395	.	.	ENSG00000183117	ENST00000335551	.	.	.	6.07	-2.55	0.06288	.	.	.	.	.	T	0.56934	0.2019	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53464	-0.8435	4	.	.	.	.	11.3797	0.49750	0.195:0.432:0.373:0.0	.	.	.	.	M	2963	.	.	L	-	1	2	CSMD1	2783529	0.931000	0.31567	0.931000	0.37212	0.978000	0.69477	0.025000	0.13577	-0.729000	0.04875	-0.211000	0.12701	CTG		0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	14	1	0	1	1	1	3	14					T	2796122	G	T	2796122	2	4	48	1	0	0	0	0	0	0	0	1	3946	929	33	2		2	CSMD1	8	2796122	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08		2796122	143567900	2086	6554										
MCPH1	79648	broad.mit.edu	37	chr8	6302632	6302632	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaatgtctgatttttcctgCgttggcaaaaaaaccagaac	8	8	1	2	rs371566184		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:6302632C>T	ENST00000344683.5	+	8	1465	c.1389C>T	c.(1387-1389)tgC>tgT	p.C463C	MCPH1_ENST00000522905.1_Silent_p.C415C|MCPH1_ENST00000519480.1_Silent_p.C463C	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	463					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ATTTTTCCTGCGTTGGCAAAA	0.443																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(1387-1389)tgC>tgT		microcephalin 1		C	,,	2,3710		0,2,1854	81	80	80		1389,1245,1389	0.2	0	8		80	0,8218		0,0,4109	no	coding-synonymous,coding-synonymous,coding-synonymous	MCPH1	NM_001172574.1,NM_001172575.1,NM_024596.3	,,	0,2,5963	TT,TC,CC		0.0,0.0539,0.0168	,,	463/611,415/563,463/836	6302632	2,11928	1856	4109	5965	SO:0001819	synonymous_variant	79648					microtubule organizing center		g.chr8:6302632C>T	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1389C>T	8.37:g.6302632C>T			Somatic				MCPH1_ENST00000522905.1_Silent_p.C415C|MCPH1_ENST00000519480.1_Silent_p.C463C	p.C463C	NM_024596.3	NP_078872.2	WXS	Illumina GAIIx	Phase_I	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	8	1465	+		Hepatocellular(245;0.0663)	463					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Silent	SNP	ENST00000344683.5	37	c.1389C>T	CCDS43689.1																																																																																				0.443	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		23	40	0	0	0	1	0	23	40					T	6302632	C	T	6302632	2	4	48	1	0	0	0	0	0	0	0	1	9407	776	27	1		1	MCPH1	8	6302632	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3506510	6302632	140061390	2087	6555										
ERI1	90459	broad.mit.edu	37	chr8	8873895	8873895	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agctgtctgatttctgcatcAgtctaactggaattactcag	8	9	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:8873895A>G	ENST00000523898.1	+	5	1241	c.562A>G	c.(562-564)Agt>Ggt	p.S188G	ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000519292.1_Missense_Mutation_p.S188G|ERI1_ENST00000250263.7_Missense_Mutation_p.S188G			Q8IV48	ERI1_HUMAN	exoribonuclease 1	188	Exonuclease.				gene silencing by RNA (GO:0031047)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|rRNA 3'-end processing (GO:0031125)	cytoplasm (GO:0005737)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|histone pre-mRNA stem-loop binding (GO:0071207)|metal ion binding (GO:0046872)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						TTTCTGCATCAGTCTAACTGG	0.318																																						ENST00000523898.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(562-564)Agt>Ggt		exoribonuclease 1	Adenosine monophosphate(DB00131)						148	146	147					8																	8873895		2203	4300	6503	SO:0001583	missense	90459				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding	g.chr8:8873895A>G	BC035279	CCDS5972.1	8p23.1	2008-12-16	2008-12-16	2008-12-16	ENSG00000104626	ENSG00000104626		"Enhanced RNAi three prime mRNA exonucleases"	23994	protein-coding gene	gene with protein product	"exoribonuclease 1", "enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)"	608739	"three prime histone mRNA exonuclease 1"	THEX1		14536070	Standard	NM_153332		Approved	3'HEXO	uc003wsk.2	Q8IV48	OTTHUMG00000129328	ENST00000523898.1:c.562A>G	8.37:g.8873895A>G	ENSP00000429615:p.Ser188Gly		Somatic				ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000519292.1_Missense_Mutation_p.S188G|ERI1_ENST00000250263.7_Missense_Mutation_p.S188G	p.S188G			WXS	Illumina GAIIx	Phase_I	Q8IV48	ERI1_HUMAN			5	1241	+			188			Exonuclease.		A8K4U7|Q9NSX3	Missense_Mutation	SNP	ENST00000523898.1	37	c.562A>G	CCDS5972.1	.	.	.	.	.	.	.	.	.	.	A	8.949	0.967800	0.18659	.	.	ENSG00000104626	ENST00000523898;ENST00000250263;ENST00000519292	T;T;T	0.23147	1.92;1.92;1.92	5.67	4.52	0.55395	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.634272	0.18257	N	0.146762	T	0.15782	0.0380	N	0.20445	0.575	0.09310	N	0.99999	B	0.02656	0.0	B	0.06405	0.002	T	0.19418	-1.0306	10	0.29301	T	0.29	-13.0655	9.038	0.36300	0.8438:0.0:0.1562:0.0	.	188	Q8IV48	ERI1_HUMAN	G	188	ENSP00000429615:S188G;ENSP00000250263:S188G;ENSP00000430190:S188G	ENSP00000250263:S188G	S	+	1	0	ERI1	8911305	0.130000	0.22417	0.986000	0.45419	0.554000	0.35429	1.750000	0.38329	0.990000	0.38787	0.460000	0.39030	AGT		0.318	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251471.2	NM_153332		22	41	0	0	0	1	0	22	41					G	8873895	A	G	8873895	3	3	48	1	0	0	0	0	1	0	0	0	5229	188	7	4	576	4	ERI1	8	8873895	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2571263	8873895	137490127	2088	6556										
AMAC1L2	83650	broad.mit.edu	37	chr8	11189077	11189077	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgccttgagagccagggtctCggtggctacgagtggtgtgg	18	8	1	1	rs143735406		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:11189077C>T	ENST00000382435.4	+	1	681	c.462C>T	c.(460-462)ctC>ctT	p.L154L		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	154	EamA 1.					integral component of membrane (GO:0016021)											GCCAGGGTCTCGGTGGCTACG	0.587													C|||	1	0.000199681	0	0	5008	,	,		21201	0.001		0	False		,,,				2504	0					ENST00000382435.4																			0											c.(460-462)ctC>ctT		solute carrier family 35, member G5		C		3,4403	6.2+/-15.9	0,3,2200	178	164	169		462	0.3	0.7	8	dbSNP_134	169	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	SLC35G5	NM_054028.1		0,7,6496	TT,TC,CC		0.0465,0.0681,0.0538		154/339	11189077	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	83650					integral to membrane		g.chr8:11189077C>T	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.462C>T	8.37:g.11189077C>T			Somatic					p.L154L	NM_054028.1	NP_473369.1	WXS	Illumina GAIIx	Phase_I	Q96KT7	AMCL2_HUMAN			1	681	+			154			DUF6 1.		A2RRL6	Silent	SNP	ENST00000382435.4	37	c.462C>T	CCDS5980.1																																																																																				0.587	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		103	141	0	0	0	1	0	103	141					T	11189077	C	T	11189077	2	4	48	1	0	0	0	0	0	0	0	1	560	871	31	1		1	AMAC1L2	8	11189077	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2315182	11189077	135174945	2089	6557										
GATA4	2626	broad.mit.edu	37	chr8	11614543	11614543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagatgcgtcccatcaagaCggagcctggcctgtcatctc	12	13	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:11614543C>T	ENST00000335135.4	+	6	1655	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	GATA4_ENST00000528712.1_Missense_Mutation_p.T160M|GATA4_ENST00000532059.1_Missense_Mutation_p.T367M	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	366					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T366K(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CCCATCAAGACGGAGCCTGGC	0.657																																						ENST00000335135.4																			1	Substitution - Missense(1)	p.T366K(1)	lung(1)	central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13						c.(1096-1098)aCg>aTg		GATA binding protein 4							95	76	82					8																	11614543		2203	4300	6503	SO:0001583	missense	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11614543C>T	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"GATA zinc finger domain containing"	4173	protein-coding gene	gene with protein product		600576	"GATA-binding protein 4"			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.1097C>T	8.37:g.11614543C>T	ENSP00000334458:p.Thr366Met		Somatic				GATA4_ENST00000528712.1_Missense_Mutation_p.T160M|GATA4_ENST00000532059.1_Missense_Mutation_p.T367M	p.T366M	NM_002052.3	NP_002043.2	WXS	Illumina GAIIx	Phase_I	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	6	1655	+	all_epithelial(15;0.0839)		366					B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	ENST00000335135.4	37	c.1097C>T	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177598	0.78564	.	.	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D;D	0.99060	-5.38;-5.11;-4.86;-4.85	5.83	4.96	0.65561	.	0.075341	0.56097	D	0.000038	D	0.98498	0.9499	M	0.64997	1.995	0.53688	D	0.999972	D;D	0.71674	0.998;0.995	P;P	0.55161	0.77;0.764	D	0.98468	1.0599	10	0.72032	D	0.01	-25.7772	10.1429	0.42747	0.0:0.8494:0.0:0.1506	.	367;366	B7ZKZ4;P43694	.;GATA4_HUMAN	M	160;160;366;365;367	ENSP00000435043:T160M;ENSP00000435347:T160M;ENSP00000334458:T366M;ENSP00000435712:T367M	ENSP00000259090:T365M	T	+	2	0	GATA4	11651952	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.400000	0.52594	1.476000	0.48215	0.655000	0.94253	ACG		0.657	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		39	76	0	0	0	1	0	39	76					T	11614543	C	T	11614543	3	4	48	1	0	0	0	0	1	0	0	0	6264	536	19	1	1115	1	GATA4	8	11614543	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	425466	11614543	134749479	2090	6558										
LONRF1	91694	broad.mit.edu	37	chr8	12594474	12594474	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catcctgttctaaaagagacAactttcttttcagcagaaca	5	10	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:12594474A>C	ENST00000398246.3	-	5	1358	c.1289T>G	c.(1288-1290)tTg>tGg	p.L430W	LONRF1_ENST00000533751.1_Missense_Mutation_p.L73W|LONRF1_ENST00000530693.1_5'Flank	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	430							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)		TAAAAGAGACAACTTTCTTTT	0.338																																						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.(1288-1290)tTg>tGg		LON peptidase N-terminal domain and ring finger 1							91	79	83					8																	12594474		1826	4085	5911	SO:0001583	missense	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12594474A>C	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1289T>G	8.37:g.12594474A>C	ENSP00000381298:p.Leu430Trp		Somatic				LONRF1_ENST00000533751.1_Missense_Mutation_p.L73W	p.L430W	NM_152271.3	NP_689484.3	WXS	Illumina GAIIx	Phase_I	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	5	1358	-			430					B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	c.1289T>G	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370021	0.82573	.	.	ENSG00000154359	ENST00000398246;ENST00000533751;ENST00000524526	D;T;D	0.86366	-2.11;-1.46;-1.71	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000006	T	0.82121	0.4968	L	0.29908	0.895	0.58432	D	0.999992	P;P	0.39920	0.695;0.569	B;B	0.40565	0.333;0.179	T	0.82099	-0.0625	10	0.36615	T	0.2	-9.809	15.7668	0.78131	1.0:0.0:0.0:0.0	.	430;430	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	W	430;73;44	ENSP00000381298:L430W;ENSP00000432130:L73W;ENSP00000433327:L44W	ENSP00000381298:L430W	L	-	2	0	LONRF1	12638845	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	6.816000	0.75247	2.266000	0.75297	0.533000	0.62120	TTG		0.338	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		4	45	0	0	0	1	0	4	45					C	12594474	A	C	12594474	3	2	48	1	0	0	0	0	1	0	0	0	8903	131	5	4	1064	4	LONRF1	8	12594474	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	979931	12594474	133769548	2091	6559										
C8orf79	57604	broad.mit.edu	37	chr8	12878856	12878856	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctatgaacctgctatggcaaGaacctgttttgcaaatattt	7	8	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:12878856G>A	ENST00000524591.2	+	5	1157	c.668G>A	c.(667-669)aGa>aAa	p.R223K	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	223							methyltransferase activity (GO:0008168)	p.R223I(1)|p.R136I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GCTATGGCAAGAACCTGTTTT	0.428																																						ENST00000524591.2																			2	Substitution - Missense(2)	p.R223I(1)|p.R136I(1)	large_intestine(2)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(667-669)aGa>aAa		KIAA1456							121	110	113					8																	12878856		1863	4110	5973	SO:0001583	missense	57604						methyltransferase activity	g.chr8:12878856G>A	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"chromosome 8 open reading frame 79"	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.668G>A	8.37:g.12878856G>A	ENSP00000432695:p.Arg223Lys		Somatic				KIAA1456_ENST00000447063.2_Intron	p.R223K	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	WXS	Illumina GAIIx	Phase_I	Q9P272	K1456_HUMAN			5	1157	+			223					Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	c.668G>A	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	G	1.018	-0.685862	0.03328	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.09723	2.95	5.67	3.79	0.43588	.	1.196990	0.06034	N	0.653696	T	0.07324	0.0185	N	0.24115	0.695	0.09310	N	0.999999	B	0.23937	0.094	B	0.22386	0.039	T	0.38178	-0.9673	10	0.05721	T	0.95	-2.6913	7.289	0.26356	0.1352:0.2694:0.5954:0.0	.	223	Q9P272	K1456_HUMAN	K	223;136	ENSP00000432695:R223K	ENSP00000432695:R223K	R	+	2	0	AC135352.2	12923227	0.002000	0.14202	0.023000	0.16930	0.479000	0.33129	1.185000	0.32065	0.794000	0.33899	0.650000	0.86243	AGA		0.428	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		25	70	0	0	0	1	0	25	70					A	12878856	G	A	12878856	3	1	48	1	0	0	0	0	1	0	0	0	2440	942	33	3	678	3	C8orf79	8	12878856	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	284382	12878856	133485166	2092	6560										
TUSC3	7991	broad.mit.edu	37	chr8	15508212	15508212	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attattcttatcaggcaagcTaatgaagaatatcaaatact	5	6	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:15508212T>G	ENST00000503731.1	+	3	463	c.315T>G	c.(313-315)gcT>gcG	p.A105A	TUSC3_ENST00000382020.4_Silent_p.A105A|TUSC3_ENST00000509380.1_Silent_p.A105A|TUSC3_ENST00000503191.1_Intron|TUSC3_ENST00000506802.1_Silent_p.A105A	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	105	Thioredoxin.				cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TCAGGCAAGCTAATGAAGAAT	0.423																																						ENST00000382020.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28						c.(313-315)gcT>gcG		tumor suppressor candidate 3							197	190	192					8																	15508212		2203	4300	6503	SO:0001819	synonymous_variant	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15508212T>G	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog A (S. cerevisiae)"	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.315T>G	8.37:g.15508212T>G			Somatic				TUSC3_ENST00000509380.1_Silent_p.A105A|TUSC3_ENST00000503191.1_Intron|TUSC3_ENST00000506802.1_Silent_p.A105A|TUSC3_ENST00000503731.1_Silent_p.A105A	p.A105A	NM_178234.2	NP_839952.1	WXS	Illumina GAIIx	Phase_I	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	3	523	+			105					A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Silent	SNP	ENST00000503731.1	37	c.315T>G	CCDS5994.1																																																																																				0.423	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		54	88	0	0	0	1	0	54	88					G	15508212	T	G	15508212	2	3	48	1	0	0	0	0	0	0	0	1	16793	1509	53	4		4	TUSC3	8	15508212	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2629356	15508212	130855810	2093	6561										
MTUS1	57509	broad.mit.edu	37	chr8	17507410	17507410	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgcagtttctcattcttgAtctctaacacagctttcagg	7	10	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:17507410A>C	ENST00000262102.6	-	13	3670	c.3446T>G	c.(3445-3447)aTc>aGc	p.I1149S	MTUS1_ENST00000519263.1_Missense_Mutation_p.I1095S|MTUS1_ENST00000400046.1_Missense_Mutation_p.I221S|MTUS1_ENST00000297488.6_Missense_Mutation_p.I315S|MTUS1_ENST00000544260.1_Missense_Mutation_p.I294S|MTUS1_ENST00000381869.3_Missense_Mutation_p.I1095S|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000381861.3_Missense_Mutation_p.I396S	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1149				I -> T (in Ref. 4; BAB14894). {ECO:0000305}.	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)		CTCATTCTTGATCTCTAACAC	0.378																																						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.(3283-3285)aTc>aGc		microtubule associated tumor suppressor 1							212	190	197					8																	17507410		1861	4104	5965	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17507410A>C	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.3446T>G	8.37:g.17507410A>C	ENSP00000262102:p.Ile1149Ser		Somatic				MTUS1_ENST00000519263.1_Missense_Mutation_p.I1095S|MTUS1_ENST00000262102.6_Missense_Mutation_p.I1149S|MTUS1_ENST00000381861.3_Missense_Mutation_p.I396S|MTUS1_ENST00000400046.1_Missense_Mutation_p.I221S|MTUS1_ENST00000544260.1_Missense_Mutation_p.I294S|MTUS1_ENST00000297488.6_Missense_Mutation_p.I315S|MTUS1_ENST00000518713.1_5'UTR	p.I1095S	NM_001001925.2	NP_001001925.1	WXS	Illumina GAIIx	Phase_I	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	12	3757	-			1149					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.3284T>G	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.799976	0.90538	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000400046;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	5.41	5.41	0.78517	.	0.044722	0.85682	D	0.000000	D	0.89908	0.6851	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.998	D	0.91338	0.5095	10	0.87932	D	0	-18.8151	15.7563	0.78030	1.0:0.0:0.0:0.0	.	1095;1149;396;315	Q9ULD2-2;Q9ULD2;Q9ULD2-6;Q9ULD2-3	.;MTUS1_HUMAN;.;.	S	1095;294;221;315;396;1149;1095	ENSP00000371293:I1095S;ENSP00000445738:I294S;ENSP00000382921:I221S;ENSP00000297488:I315S;ENSP00000371285:I396S;ENSP00000262102:I1149S;ENSP00000430167:I1095S	ENSP00000262102:I1149S	I	-	2	0	MTUS1	17551690	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.281000	0.95811	2.190000	0.69967	0.455000	0.32223	ATC		0.378	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		29	56	0	0	0	1	0	29	56					C	17507410	A	C	17507410	3	2	48	1	0	0	0	0	1	0	0	0	9974	333	12	4	378	4	MTUS1	8	17507410	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1999198	17507410	128856612	2094	6562										
MTUS1	57509	broad.mit.edu	37	chr8	17611644	17611644	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtctgcattcaagtcagatCtcggtgttctgctcaagact	9	10	6	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:17611644C>A	ENST00000262102.6	-	2	1897	c.1673G>T	c.(1672-1674)aGa>aTa	p.R558I	MTUS1_ENST00000519263.1_Missense_Mutation_p.R558I|MTUS1_ENST00000381869.3_Missense_Mutation_p.R558I|MTUS1_ENST00000381862.3_Missense_Mutation_p.R558I	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	558					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)		CAAGTCAGATCTCGGTGTTCT	0.428																																						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.(1672-1674)aGa>aTa		microtubule associated tumor suppressor 1							273	252	259					8																	17611644		1986	4161	6147	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611644C>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.1673G>T	8.37:g.17611644C>A	ENSP00000262102:p.Arg558Ile		Somatic				MTUS1_ENST00000519263.1_Missense_Mutation_p.R558I|MTUS1_ENST00000262102.6_Missense_Mutation_p.R558I|MTUS1_ENST00000381862.3_Missense_Mutation_p.R558I	p.R558I	NM_001001925.2	NP_001001925.1	WXS	Illumina GAIIx	Phase_I	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2146	-			558					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.1673G>T	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295043	0.23564	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.36340	2.67;1.26;2.67;1.72	5.1	4.22	0.49857	.	0.079276	0.49916	D	0.000123	T	0.36799	0.0980	L	0.34521	1.04	0.20196	N	0.999929	D;D;D	0.56746	0.977;0.96;0.96	P;P;P	0.54100	0.742;0.605;0.509	T	0.15464	-1.0436	10	0.87932	D	0	-14.6443	7.6496	0.28340	0.0:0.7074:0.1763:0.1163	.	558;558;558	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	I	558	ENSP00000371293:R558I;ENSP00000262102:R558I;ENSP00000430167:R558I;ENSP00000371286:R558I	ENSP00000262102:R558I	R	-	2	0	MTUS1	17655924	0.005000	0.15991	0.015000	0.15790	0.010000	0.07245	0.665000	0.25083	1.525000	0.49052	0.650000	0.86243	AGA		0.428	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		62	136	1	0	1.88225e-35	1	2.70619e-35	62	136					A	17611644	C	A	17611644	3	1	48	1	0	0	0	0	1	0	0	0	9974	913	32	2	2514	2	MTUS1	8	17611644	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	104234	17611644	128752378	2095	6563										
SH2D4A	63898	broad.mit.edu	37	chr8	19250883	19250883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgagcacaggcatgcccgGcagttttctcatccgagtca	10	13	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:19250883G>A	ENST00000265807.3	+	9	1514	c.1103G>A	c.(1102-1104)gGc>gAc	p.G368D	SH2D4A_ENST00000519207.1_Missense_Mutation_p.G368D|SH2D4A_ENST00000518040.1_Missense_Mutation_p.G323D	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	368	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)		GGCATGCCCGGCAGTTTTCTC	0.473																																						ENST00000265807.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16						c.(1102-1104)gGc>gAc		SH2 domain containing 4A							123	120	121					8																	19250883		2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19250883G>A	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	26102	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 38"	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.1103G>A	8.37:g.19250883G>A	ENSP00000265807:p.Gly368Asp		Somatic				SH2D4A_ENST00000519207.1_Missense_Mutation_p.G368D|SH2D4A_ENST00000518040.1_Missense_Mutation_p.G323D	p.G368D	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	WXS	Illumina GAIIx	Phase_I	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	9	1514	+			368			SH2.		B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.1103G>A	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539918	0.65085	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207	D;D;D	0.91351	-2.83;-2.83;-2.83	5.89	5.89	0.94794	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.97343	0.9131	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98243	1.0489	10	0.87932	D	0	.	18.8248	0.92114	0.0:0.0:1.0:0.0	.	323;368	B4DDR1;Q9H788	.;SH24A_HUMAN	D	368;323;368	ENSP00000265807:G368D;ENSP00000429482:G323D;ENSP00000428684:G368D	ENSP00000265807:G368D	G	+	2	0	SH2D4A	19295163	1.000000	0.71417	0.991000	0.47740	0.029000	0.11900	8.241000	0.89816	2.790000	0.95986	0.637000	0.83480	GGC		0.473	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		5	88	0	0	0	1	0	5	88					A	19250883	G	A	19250883	3	1	48	1	0	0	0	0	1	0	0	0	14250	1203	42	3	1183	3	SH2D4A	8	19250883	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1639239	19250883	127113139	2096	6564										
INTS10	55174	broad.mit.edu	37	chr8	19684066	19684066	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agctgaaggaagagaaaaaaCcatggtaaggctttcaaata	10	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:19684066C>A	ENST00000397977.3	+	9	1534	c.1136C>A	c.(1135-1137)aCc>aAc	p.T379N		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	379					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)		AGAGAAAAAACCATGGTAAGG	0.343																																						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.(1135-1137)aCc>aAc		integrator complex subunit 10							85	78	80					8																	19684066		1835	4083	5918	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19684066C>A	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1136C>A	8.37:g.19684066C>A	ENSP00000381064:p.Thr379Asn		Somatic					p.T379N	NM_018142.2	NP_060612.2	WXS	Illumina GAIIx	Phase_I	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	9	1534	+			379					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.1136C>A	CCDS6011.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.661301|4.661301	0.88154|0.88154	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000523846|ENST00000397977	.|.	.|.	.|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.201667	.|0.51477	.|D	.|0.000082	T|T	0.49490|0.49490	0.1560|0.1560	L|L	0.38531|0.38531	1.155|1.155	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.36144	.|0.539	.|B	.|0.30782	.|0.12	T|T	0.54050|0.54050	-0.8351|-0.8351	5|9	.|0.66056	.|D	.|0.02	-3.7649|-3.7649	18.5553|18.5553	0.91081|0.91081	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|379	.|Q9NVR2	.|INT10_HUMAN	T|N	155|379	.|.	.|ENSP00000381064:T379N	P|T	+|+	1|2	0|0	INTS10|INTS10	19728346|19728346	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	5.203000|5.203000	0.65174|0.65174	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.343	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		13	23	1	0	0.00136819	1	0.00143372	13	23					A	19684066	C	A	19684066	3	1	48	1	0	0	0	0	1	0	0	0	7785	507	18	5	1170	5	INTS10	8	19684066	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	433183	19684066	126679956	2097	6565										
INTS10	55174	broad.mit.edu	37	chr8	19709225	19709225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttcgcctggccatggagcGccaggtctcccgctgtggag	14	14	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:19709225G>A	ENST00000397977.3	+	17	2440	c.2042G>A	c.(2041-2043)cGc>cAc	p.R681H		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	681					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)		GCCATGGAGCGCCAGGTCTCC	0.537																																						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.(2041-2043)cGc>cAc		integrator complex subunit 10							106	108	108					8																	19709225		2056	4197	6253	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19709225G>A	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.2042G>A	8.37:g.19709225G>A	ENSP00000381064:p.Arg681His		Somatic					p.R681H	NM_018142.2	NP_060612.2	WXS	Illumina GAIIx	Phase_I	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	17	2440	+			681					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.2042G>A	CCDS6011.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.064078|5.064078	0.93898|0.93898	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000523772|ENST00000397977;ENST00000520670	.|.	.|.	.|.	5.56|5.56	4.68|4.68	0.58851|0.58851	.|.	.|0.095561	.|0.64402	.|D	.|0.000001	T|T	0.53384|0.53384	0.1793|0.1793	L|L	0.61218|0.61218	1.895|1.895	0.58432|0.58432	D|D	0.999994|0.999994	.|P	.|0.45768	.|0.866	.|B	.|0.37989	.|0.262	T|T	0.56450|0.56450	-0.7977|-0.7977	5|8	.|.	.|.	.|.	-15.6052|-15.6052	15.0965|15.0965	0.72238|0.72238	0.0:0.1427:0.8573:0.0|0.0:0.1427:0.8573:0.0	.|.	.|681	.|Q9NVR2	.|INT10_HUMAN	T|H	144|681;85	.|.	.|.	A|R	+|+	1|2	0|0	INTS10|INTS10	19753505|19753505	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.397000|9.397000	0.97276|0.97276	1.316000|1.316000	0.45131|0.45131	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.537	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		27	60	0	0	0	1	0	27	60					A	19709225	G	A	19709225	3	1	48	1	0	0	0	0	1	0	0	0	7785	1087	38	1	2108	1	INTS10	8	19709225	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	25159	19709225	126654797	2098	6566										
HR	55806	broad.mit.edu	37	chr8	21977295	21977295	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taggctgcccagagctggggCtccagtggacgcagggcaag	17	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:21977295C>A	ENST00000381418.4	-	14	4435	c.2955G>T	c.(2953-2955)gaG>gaT	p.E985D	HR_ENST00000312841.8_Missense_Mutation_p.E985D	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	985	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				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)		AGAGCTGGGGCTCCAGTGGAC	0.627																																						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.(2953-2955)gaG>gaT		hair growth associated							56	57	56					8																	21977295		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21977295C>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.2955G>T	8.37:g.21977295C>A	ENSP00000370826:p.Glu985Asp		Somatic				HR_ENST00000312841.8_Missense_Mutation_p.E985D	p.E985D	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)	14	4435	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	985			JmjC.		Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.2955G>T	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488636	0.26686	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.76186	-1.0;-1.0	4.62	3.7	0.42460	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.133754	0.34133	N	0.004230	T	0.61451	0.2348	L	0.36672	1.1	0.31978	N	0.606201	P;P	0.42692	0.787;0.501	B;B	0.39379	0.298;0.081	T	0.67868	-0.5559	10	0.51188	T	0.08	-10.9959	7.251	0.26150	0.0:0.8698:0.0:0.1302	.	985;985	O43593-2;O43593	.;HAIR_HUMAN	D	985	ENSP00000370826:E985D;ENSP00000326765:E985D	ENSP00000326765:E985D	E	-	3	2	HR	22033240	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	0.569000	0.23638	1.084000	0.41184	0.313000	0.20887	GAG		0.627	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			5	53	1	0	0.014758	1	0.015099	5	53					A	21977295	C	A	21977295	3	1	48	1	0	0	0	0	1	0	0	0	7356	796	28	5	638	5	HR	8	21977295	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2268070	21977295	124386727	2099	6567										
HR	55806	broad.mit.edu	37	chr8	21982828	21982828	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggaggtcctgttcaccttcCcgctgggcccaagccagggc	13	15	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:21982828C>A	ENST00000381418.4	-	5	3226	c.1746G>T	c.(1744-1746)cgG>cgT	p.R582R	HR_ENST00000312841.8_Silent_p.R582R	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	582					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)		GTTCACCTTCCCGCTGGGCCC	0.687																																						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.(1744-1746)cgG>cgT		hair growth associated							10	11	11					8																	21982828		2178	4274	6452	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21982828C>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.1746G>T	8.37:g.21982828C>A			Somatic				HR_ENST00000312841.8_Silent_p.R582R	p.R582R	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)	5	3226	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	582					Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.1746G>T	CCDS6022.1																																																																																				0.687	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			5	6	1	0	0.000602214	1	0.000636035	5	6					A	21982828	C	A	21982828	2	1	48	1	0	0	0	0	0	0	0	1	7356	610	22	5		5	HR	8	21982828	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5533	21982828	124381194	2100	6568										
SFTPC	649	broad.mit.edu	37	chr8	22019365	22019365	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgtgggcagcaaagaggtCctgatggagagcccgccggt	17	9	0	3	rs144603526	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:22019365C>T	ENST00000306385.5	+	0	0				SFTPC_ENST00000521315.1_Silent_p.V8V|SFTPC_ENST00000522109.1_Silent_p.V8V|SFTPC_ENST00000318561.3_Silent_p.V8V|SFTPC_ENST00000437090.2_Silent_p.V8V|SFTPC_ENST00000524255.1_Silent_p.V8V|SFTPC_ENST00000520605.1_Silent_p.V8V	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCAAAGAGGTCCTGATGGAGA	0.592																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(22-24)gtC>gtT		surfactant protein C							152	176	168					8																	22019365		2164	4265	6429	SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22019365C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22019365C>T	Exception_encountered		Somatic				SFTPC_ENST00000318561.3_Silent_p.V8V|SFTPC_ENST00000437090.2_Silent_p.V8V|SFTPC_ENST00000522109.1_Silent_p.V8V|SFTPC_ENST00000520605.1_Silent_p.V8V|SFTPC_ENST00000524255.1_Silent_p.V8V	p.V8V			WXS	Illumina GAIIx	Phase_I	P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	1	56	+			8					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	c.24C>T	CCDS6026.1																																																																																				0.592	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		33	76	0	0	0	1	0	33	76					T	22019365	C	T	22019365	1	4	48	0	1	0	0	0	0	0	0	0	14207	842	30	3		3	SFTPC	8	22019365	5'Flank	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	36537	22019365	124344657	2101	6569										
TNFRSF10A	8797	broad.mit.edu	37	chr8	23049432	23049432	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtaccagctctgaccacatcGatctcatttttcgtgaggtc	8	12	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:23049432G>A	ENST00000221132.3	-	10	1246	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	RP11-1149O23.2_ENST00000518308.1_RNA	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	394	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				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)			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)		TGACCACATCGATCTCATTTT	0.527																																						ENST00000221132.3																			0				NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16						c.(1180-1182)atC>atT		tumor necrosis factor receptor superfamily, member 10a							149	122	131					8																	23049432		2203	4300	6503	SO:0001819	synonymous_variant	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.chr8:23049432G>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.1182C>T	8.37:g.23049432G>A			Somatic					p.I394I	NM_003844.3	NP_003835.3	WXS	Illumina GAIIx	Phase_I	O00220	TR10A_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	10	1246	-		Prostate(55;0.0421)|Breast(100;0.14)	394			Death.		A8K5I4|Q53Y72|Q96E62	Silent	SNP	ENST00000221132.3	37	c.1182C>T	CCDS6039.1																																																																																				0.527	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2	NM_003844		37	71	0	0	0	1	0	37	71					A	23049432	G	A	23049432	2	1	48	1	0	0	0	0	0	0	0	1	16295	1048	37	1		1	TNFRSF10A	8	23049432	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1030067	23049432	123314590	2102	6570										
NEFL	4747	broad.mit.edu	37	chr8	24813109	24813109	+	RNA	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccttgagcagacgacggctCtcggacacctcgtccttggc	12	15	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:24813109C>T	ENST00000221169.5	-	0	1515				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|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)		GACGACGGCTCTCGGACACCT	0.622																																						ENST00000221169.5																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21								neurofilament, light polypeptide							52	56	55					8																	24813109		2074	4194	6268			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24813109C>T		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"Intermediate filaments type IV"	7739	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 110"	162280	"neurofilament, light polypeptide 68kDa"			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813109C>T			Somatic								WXS	Illumina GAIIx	Phase_I	P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	0	1515	-		Ovarian(32;0.00965)|Prostate(55;0.157)						B9ZVN2|Q16154|Q8IU72	RNA	SNP	ENST00000221169.5	37																																																																																						0.622	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		21	34	0	0	0	1	0	21	34					T	24813109	C	T	24813109	1	4	48	0	1	0	0	0	0	0	0	0	10324	912	32	3		3	NEFL	8	24813109	RNA	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1763677	24813109	121550913	2103	6571										
EBF2	64641	broad.mit.edu	37	chr8	25897597	25897597	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacatttccggattcttattCtgtccctcgtaagcgatggg	9	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:25897597C>A	ENST00000520164.1	-	5	966	c.429G>T	c.(427-429)caG>caT	p.Q143H	EBF2_ENST00000408929.3_5'UTR	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	143					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GATTCTTATTCTGTCCCTCGT	0.557																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(427-429)caG>caT		early B-cell factor 2							137	137	137					8																	25897597		1946	4141	6087	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25897597C>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.429G>T	8.37:g.25897597C>A	ENSP00000430241:p.Gln143His		Somatic				EBF2_ENST00000408929.3_5'UTR	p.Q143H	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)	5	966	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	143					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.429G>T	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654558	0.67472	.	.	ENSG00000221818	ENST00000520164	T	0.54071	0.59	5.5	2.55	0.30701	.	0.000000	0.64402	U	0.000001	T	0.70570	0.3239	M	0.86740	2.835	0.80722	D	1	D	0.63880	0.993	D	0.62955	0.909	T	0.71823	-0.4476	10	0.87932	D	0	-2.7934	9.9997	0.41920	0.0:0.7263:0.0:0.2737	.	143	Q9HAK2	COE2_HUMAN	H	143	ENSP00000430241:Q143H	ENSP00000430241:Q143H	Q	-	3	2	EBF2	25953514	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.983000	0.29552	0.192000	0.20272	0.655000	0.94253	CAG		0.557	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		5	166	1	0	1	1	1	5	166					A	25897597	C	A	25897597	3	1	48	1	0	0	0	0	1	0	0	0	4883	912	32	2	1346	2	EBF2	8	25897597	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1084488	25897597	120466425	2104	6572										
PNMA2	10687	broad.mit.edu	37	chr8	26365965	26365965	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaacaggttcaatctttcaaGaaactcagtgtcctgattag	7	8	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:26365965G>T	ENST00000522362.2	-	3	1201	c.307C>A	c.(307-309)Ctt>Att	p.L103I	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	103					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		aatctttcaagaaactcagtg	0.537																																						ENST00000522362.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11						c.(307-309)Ctt>Att		paraneoplastic Ma antigen 2							73	72	72					8																	26365965		2203	4300	6503	SO:0001583	missense	10687				apoptosis	nucleolus	protein binding	g.chr8:26365965G>T		CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"Paraneoplastic Ma antigens"	9159	protein-coding gene	gene with protein product		603970	"paraneoplastic antigen MA2"			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.307C>A	8.37:g.26365965G>T	ENSP00000429344:p.Leu103Ile		Somatic					p.L103I	NM_007257.5	NP_009188.1	WXS	Illumina GAIIx	Phase_I	Q9UL42	PNMA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)	3	1201	-		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)	103					B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	c.307C>A	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.243173	0.58995	.	.	ENSG00000240694	ENST00000522362	T	0.14391	2.51	3.9	3.9	0.45041	.	.	.	.	.	T	0.30417	0.0764	L	0.55213	1.73	0.29837	N	0.829557	D	0.63880	0.993	D	0.73708	0.981	T	0.02214	-1.1194	9	0.54805	T	0.06	-21.4868	11.6791	0.51446	0.0:0.0:1.0:0.0	.	103	Q9UL42	PNMA2_HUMAN	I	103	ENSP00000429344:L103I	ENSP00000429344:L103I	L	-	1	0	PNMA2	26421882	1.000000	0.71417	0.994000	0.49952	0.872000	0.50106	3.689000	0.54706	2.458000	0.83093	0.655000	0.94253	CTT		0.537	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257		25	36	1	0	1.10923e-09	1	1.34134e-09	25	36					T	26365965	G	T	26365965	3	4	48	1	0	0	0	0	1	0	0	0	12163	942	33	2	791	2	PNMA2	8	26365965	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	468368	26365965	119998057	2105	6573										
C8orf80	389643	broad.mit.edu	37	chr8	27913534	27913534	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtagttttatcatttcatttCtttctaaaacagcctctcgc	4	10	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:27913534C>A	ENST00000413272.2	-	10	1296	c.1154G>T	c.(1153-1155)aGa>aTa	p.R385I	NUGGC_ENST00000341513.6_Missense_Mutation_p.R385I	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	385					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										CATTTCATTTCTTTCTAAAAC	0.388																																						ENST00000413272.2																			0											c.(1153-1155)aGa>aTa		nuclear GTPase, germinal center associated							72	67	69					8																	27913534		1894	4125	6019	SO:0001583	missense	389643							g.chr8:27913534C>A	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1154G>T	8.37:g.27913534C>A	ENSP00000408697:p.Arg385Ile		Somatic				NUGGC_ENST00000341513.6_Missense_Mutation_p.R385I	p.R385I	NM_001010906.1	NP_001010906.1	WXS	Illumina GAIIx	Phase_I					10	1296	-								Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	c.1154G>T	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305468	0.81247	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.19105	2.32;2.17	5.37	5.37	0.77165	.	0.076389	0.64402	D	0.000009	T	0.35913	0.0948	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.07731	-1.0757	10	0.72032	D	0.01	-18.1173	14.6354	0.68686	0.0:1.0:0.0:0.0	.	385	Q68CJ6	SLIP_HUMAN	I	385	ENSP00000408697:R385I;ENSP00000345031:R385I	ENSP00000345031:R385I	R	-	2	0	C8orf80	27969453	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.587000	0.46128	2.507000	0.84556	0.557000	0.71058	AGA		0.388	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		4	5	1	0	1	1	1	4	5					A	27913534	C	A	27913534	3	1	48	1	0	0	0	0	1	0	0	0	2441	913	32	2	1276	2	C8orf80	8	27913534	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1547569	27913534	118450488	2106	6574										
HMBOX1	79618	broad.mit.edu	37	chr8	28866664	28866664	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaacagaagaaaagagcatTttaccgatggtatcaacttg	9	6	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:28866664T>G	ENST00000397358.3	+	6	1366	c.662T>G	c.(661-663)tTt>tGt	p.F221C	HMBOX1_ENST00000403668.2_Missense_Mutation_p.F221C|HMBOX1_ENST00000524238.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000523613.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000519047.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000444075.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000355231.5_Missense_Mutation_p.F221C|HMBOX1_ENST00000558662.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000287701.10_Missense_Mutation_p.F221C	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	221					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		AAAAGAGCATTTTACCGATGG	0.373																																						ENST00000397358.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11						c.(661-663)tTt>tGt		homeobox containing 1							113	106	109					8																	28866664		2203	4300	6503	SO:0001583	missense	79618				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:28866664T>G	AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"Homeoboxes / HNF class"	26137	protein-coding gene	gene with protein product	"homeobox telomere-binding protein 1"					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.662T>G	8.37:g.28866664T>G	ENSP00000380516:p.Phe221Cys		Somatic				HMBOX1_ENST00000558662.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000524238.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000519047.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000523613.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000403668.2_Missense_Mutation_p.F221C|HMBOX1_ENST00000355231.5_Missense_Mutation_p.F221C|HMBOX1_ENST00000287701.10_Missense_Mutation_p.F221C|HMBOX1_ENST00000444075.1_Missense_Mutation_p.F221C	p.F221C	NM_024567.3	NP_078843.2	WXS	Illumina GAIIx	Phase_I	Q6NT76	HMBX1_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)	6	1366	+		Ovarian(32;0.0192)	221					A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Missense_Mutation	SNP	ENST00000397358.3	37	c.662T>G	CCDS6071.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.805533	0.90623	.	.	ENSG00000147421	ENST00000287701;ENST00000444075;ENST00000403668;ENST00000519047;ENST00000397358;ENST00000524238;ENST00000517340;ENST00000355231	D;D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11;-5.11	5.81	5.81	0.92471	Hepatocyte nuclear factor 1, N-terminal (1);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	M	0.61703	1.905	0.58432	D	0.999999	P;D;D;P;P;P	0.56968	0.933;0.978;0.973;0.793;0.808;0.946	P;P;P;P;B;P	0.53722	0.614;0.733;0.614;0.487;0.424;0.733	D	0.99264	1.0891	10	0.72032	D	0.01	-6.2815	16.1574	0.81676	0.0:0.0:0.0:1.0	.	221;221;221;221;221;221	Q6NT76-5;D3DSU2;Q6NT76-2;Q6NT76-3;Q6NT76;E5RGZ2	.;.;.;.;HMBX1_HUMAN;.	C	221	ENSP00000287701:F221C;ENSP00000401769:F221C;ENSP00000384261:F221C;ENSP00000430059:F221C;ENSP00000380516:F221C;ENSP00000430110:F221C	ENSP00000287701:F221C	F	+	2	0	HMBOX1	28922583	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.662000	0.83803	2.221000	0.72209	0.533000	0.62120	TTT		0.373	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255267.4	NM_024567		20	32	0	0	0	1	0	20	32					G	28866664	T	G	28866664	3	3	48	1	0	0	0	0	1	0	0	0	7227	1841	64	4	676	4	HMBOX1	8	28866664	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	953130	28866664	117497358	2107	6575										
GTF2E2	2961	broad.mit.edu	37	chr8	30464620	30464620	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttatcattgaagaaaagtatTttcttcttatcgggacgatt	7	5	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30464620T>G	ENST00000355904.4	-	6	879	c.597A>C	c.(595-597)aaA>aaC	p.K199N	GTF2E2_ENST00000522833.1_5'UTR	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	199					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)		AGAAAAGTATTTTCTTCTTAT	0.328																																						ENST00000355904.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(595-597)aaA>aaC		general transcription factor IIE, polypeptide 2, beta 34kDa							60	65	64					8																	30464620		2203	4294	6497	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.chr8:30464620T>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.597A>C	8.37:g.30464620T>G	ENSP00000348168:p.Lys199Asn		Somatic				GTF2E2_ENST00000522833.1_5'UTR	p.K199N	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)	6	879	-			199					D3DSV2|Q9H2B9	Missense_Mutation	SNP	ENST00000355904.4	37	c.597A>C	CCDS6078.1	.	.	.	.	.	.	.	.	.	.	T	17.54	3.414775	0.62511	.	.	ENSG00000197265	ENST00000355904	T	0.35236	1.32	5.73	3.03	0.35002	.	0.042610	0.85682	D	0.000000	T	0.41143	0.1146	M	0.83953	2.67	0.58432	D	0.999993	B	0.30281	0.275	B	0.32805	0.153	T	0.43114	-0.9411	10	0.62326	D	0.03	-15.758	8.9156	0.35579	0.0:0.179:0.0:0.821	.	199	P29084	T2EB_HUMAN	N	199	ENSP00000348168:K199N	ENSP00000348168:K199N	K	-	3	2	GTF2E2	30584162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.207000	0.51106	1.002000	0.39104	0.528000	0.53228	AAA		0.328	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		16	38	0	0	0	1	0	16	38					G	30464620	T	G	30464620	3	3	48	1	0	0	0	0	1	0	0	0	6866	1838	64	4	290	4	GTF2E2	8	30464620	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1597956	30464620	115899402	2108	6576										
TEX15	56154	broad.mit.edu	37	chr8	30695032	30695032	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttaatagatgaatttactAtatcattatcttgaagttca	4	4	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30695032A>G	ENST00000256246.2	-	3	7693	c.7619T>C	c.(7618-7620)aTa>aCa	p.I2540T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2540					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)		TGAATTTACTATATCATTATC	0.368																																						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.(7618-7620)aTa>aCa		testis expressed 15							57	59	58					8																	30695032		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30695032A>G	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.7619T>C	8.37:g.30695032A>G	ENSP00000256246:p.Ile2540Thr		Somatic					p.I2540T	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)	3	7693	-			2540						Missense_Mutation	SNP	ENST00000256246.2	37	c.7619T>C	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	6.454	0.451994	0.12283	.	.	ENSG00000133863	ENST00000256246	T	0.13307	2.6	5.17	4.01	0.46588	.	0.917210	0.09295	N	0.821758	T	0.11495	0.0280	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.25813	-1.0121	10	0.87932	D	0	.	8.4117	0.32646	0.9098:0.0:0.0902:0.0	.	2540	Q9BXT5	TEX15_HUMAN	T	2540	ENSP00000256246:I2540T	ENSP00000256246:I2540T	I	-	2	0	TEX15	30814574	0.000000	0.05858	0.001000	0.08648	0.413000	0.31143	-0.018000	0.12568	1.057000	0.40506	-0.267000	0.10333	ATA		0.368	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			10	29	0	0	0	1	0	10	29					G	30695032	A	G	30695032	3	3	48	1	0	0	0	0	1	0	0	0	15794	449	16	4	758	4	TEX15	8	30695032	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	230412	30695032	115668990	2109	6577										
TEX15	56154	broad.mit.edu	37	chr8	30701117	30701117	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaatggaacagaaagagaaAaatcaaagcaatcggaacaa	8	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30701117A>C	ENST00000256246.2	-	1	5491	c.5417T>G	c.(5416-5418)tTt>tGt	p.F1806C		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1806					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)		AGAAAGAGAAAAATCAAAGCA	0.323																																						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.(5416-5418)tTt>tGt		testis expressed 15							80	77	78					8																	30701117		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30701117A>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.5417T>G	8.37:g.30701117A>C	ENSP00000256246:p.Phe1806Cys		Somatic					p.F1806C	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	5491	-			1806						Missense_Mutation	SNP	ENST00000256246.2	37	c.5417T>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.985878	0.53934	.	.	ENSG00000133863	ENST00000256246	T	0.27256	1.68	5.54	5.54	0.83059	.	0.000000	0.52532	D	0.000074	T	0.47911	0.1471	L	0.59436	1.845	0.48830	D	0.99971	D	0.89917	1.0	D	0.97110	1.0	T	0.48186	-0.9057	10	0.87932	D	0	.	14.6584	0.68850	1.0:0.0:0.0:0.0	.	1806	Q9BXT5	TEX15_HUMAN	C	1806	ENSP00000256246:F1806C	ENSP00000256246:F1806C	F	-	2	0	TEX15	30820659	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	6.281000	0.72632	2.100000	0.63781	0.528000	0.53228	TTT		0.323	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			19	33	0	0	0	1	0	19	33					C	30701117	A	C	30701117	3	2	48	1	0	0	0	0	1	0	0	0	15794	14	1	4	2968	4	TEX15	8	30701117	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	6085	30701117	115662905	2110	6578										
TEX15	56154	broad.mit.edu	37	chr8	30701595	30701595	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctttcaaaagcttccacaaAtaaagggagaatatttagac	6	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30701595A>C	ENST00000256246.2	-	1	5013	c.4939T>G	c.(4939-4941)Ttt>Gtt	p.F1647V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1647					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)		GCTTCCACAAATAAAGGGAGA	0.353																																						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.(4939-4941)Ttt>Gtt		testis expressed 15							51	53	52					8																	30701595		2202	4300	6502	SO:0001583	missense	56154							g.chr8:30701595A>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.4939T>G	8.37:g.30701595A>C	ENSP00000256246:p.Phe1647Val		Somatic					p.F1647V	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	5013	-			1647						Missense_Mutation	SNP	ENST00000256246.2	37	c.4939T>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.424317	0.62733	.	.	ENSG00000133863	ENST00000256246	T	0.28255	1.62	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000009	T	0.53916	0.1826	M	0.63843	1.955	0.51767	D	0.999933	D	0.89917	1.0	D	0.97110	1.0	T	0.56123	-0.8031	10	0.87932	D	0	.	15.3352	0.74247	1.0:0.0:0.0:0.0	.	1647	Q9BXT5	TEX15_HUMAN	V	1647	ENSP00000256246:F1647V	ENSP00000256246:F1647V	F	-	1	0	TEX15	30821137	0.998000	0.40836	0.960000	0.40013	0.785000	0.44390	4.356000	0.59430	2.255000	0.74692	0.533000	0.62120	TTT		0.353	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			12	26	0	0	0	1	0	12	26					C	30701595	A	C	30701595	3	2	48	1	0	0	0	0	1	0	0	0	15794	101	4	4	3446	4	TEX15	8	30701595	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	478	30701595	115662427	2111	6579										
UNC5D	137970	broad.mit.edu	37	chr8	35583744	35583744	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catacagcggacccatctgtCtgcaggaccctctggacaag	10	14	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:35583744C>A	ENST00000404895.2	+	10	1706	c.1378C>A	c.(1378-1380)Ctg>Atg	p.L460M	UNC5D_ENST00000416672.1_Missense_Mutation_p.L465M|UNC5D_ENST00000453357.2_Missense_Mutation_p.L455M|UNC5D_ENST00000449677.1_Missense_Mutation_p.L36M|UNC5D_ENST00000287272.2_Missense_Mutation_p.L391M|UNC5D_ENST00000420357.1_Missense_Mutation_p.L393M	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	460					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)		ACCCATCTGTCTGCAGGACCC	0.502																																						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.(1171-1173)Ctg>Atg		unc-5 homolog D (C. elegans)							63	61	62					8																	35583744		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35583744C>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1378C>A	8.37:g.35583744C>A	ENSP00000385143:p.Leu460Met		Somatic				UNC5D_ENST00000453357.2_Missense_Mutation_p.L455M|UNC5D_ENST00000420357.1_Missense_Mutation_p.L393M|UNC5D_ENST00000404895.2_Missense_Mutation_p.L460M|UNC5D_ENST00000449677.1_Missense_Mutation_p.L36M|UNC5D_ENST00000416672.1_Missense_Mutation_p.L465M	p.L391M			WXS	Illumina GAIIx	Phase_I	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1191	+			460					Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1171C>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661245	0.67700	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.57752	0.41;0.83;0.81;0.41;0.38;1.76	6.04	5.17	0.71159	.	0.239499	0.42172	D	0.000742	T	0.49932	0.1586	L	0.29908	0.895	0.40970	D	0.984699	P;P;D;P	0.53151	0.93;0.93;0.958;0.93	P;P;P;P	0.51135	0.467;0.459;0.66;0.459	T	0.53975	-0.8362	10	0.54805	T	0.06	-12.2544	11.5696	0.50826	0.0:0.8639:0.0:0.1361	.	36;465;455;460	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	M	460;393;391;465;455;36	ENSP00000385143:L460M;ENSP00000392739:L393M;ENSP00000287272:L391M;ENSP00000412652:L465M;ENSP00000394303:L455M;ENSP00000397211:L36M	ENSP00000287272:L391M	L	+	1	2	UNC5D	35703286	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	3.649000	0.54417	1.574000	0.49760	-0.244000	0.11960	CTG		0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			7	69	1	0	1.12685e-05	1	1.24509e-05	7	69					A	35583744	C	A	35583744	3	1	48	1	0	0	0	0	1	0	0	0	17010	912	32	2	1416	2	UNC5D	8	35583744	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4882149	35583744	110780278	2112	6580										
KCNU1	157855	broad.mit.edu	37	chr8	36671793	36671793	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atatcatattttgagtcaatTtacctggtcatggcaacaac	6	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:36671793T>G	ENST00000399881.3	+	8	838	c.801T>G	c.(799-801)atT>atG	p.I267M		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	267					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)		TTGAGTCAATTTACCTGGTCA	0.433																																						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.(799-801)atT>atG		potassium channel, subfamily U, member 1							71	68	69					8																	36671793		1869	4092	5961	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36671793T>G	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.801T>G	8.37:g.36671793T>G	ENSP00000382770:p.Ile267Met		Somatic					p.I267M	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)	8	838	+			267						Missense_Mutation	SNP	ENST00000399881.3	37	c.801T>G	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	T	4.650	0.120749	0.08881	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	D;D	0.98329	-4.87;-4.87	5.37	4.2	0.49525	Ion transport (1);	0.679876	0.11675	U	0.540380	D	0.95401	0.8507	L	0.33093	0.98	0.80722	D	1	B	0.23735	0.09	B	0.26310	0.068	D	0.91721	0.5389	10	0.52906	T	0.07	-4.1188	6.552	0.22440	0.1462:0.0:0.3034:0.5505	.	267	A8MYU2	KCNU1_HUMAN	M	267	ENSP00000429951:I267M;ENSP00000382770:I267M	ENSP00000382770:I267M	I	+	3	3	KCNU1	36790951	0.954000	0.32549	0.924000	0.36721	0.018000	0.09664	-0.062000	0.11674	0.854000	0.35336	-0.644000	0.03951	ATT		0.433	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		12	18	0	0	0	1	0	12	18					G	36671793	T	G	36671793	3	3	48	1	0	0	0	0	1	0	0	0	8102	1829	64	4	831	4	KCNU1	8	36671793	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1088049	36671793	109692229	2113	6581										
DDHD2	23259	broad.mit.edu	37	chr8	38097797	38097797	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttaatttcatttataggagaAcctttacaaatagatcactt	4	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:38097797A>G	ENST00000397166.2	+	6	1152	c.627A>G	c.(625-627)gaA>gaG	p.E209E	DDHD2_ENST00000520272.2_Silent_p.E209E	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	209					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)			TTATAGGAGAACCTTTACAAA	0.323																																						ENST00000397166.2																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(625-627)gaA>gaG		DDHD domain containing 2							99	91	93					8																	38097797		2203	4300	6503	SO:0001819	synonymous_variant	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38097797A>G	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.627A>G	8.37:g.38097797A>G			Somatic				DDHD2_ENST00000520272.2_Silent_p.E209E	p.E209E	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)		6	1152	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	209					B3KWV2|B3KXB5|Q9H8X7	Silent	SNP	ENST00000397166.2	37	c.627A>G	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663700	0.29515	.	.	ENSG00000085788	ENST00000532106	.	.	.	5.46	0.372	0.16173	.	.	.	.	.	T	0.63271	0.2497	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63734	-0.6570	5	0.87932	D	0	-23.7977	8.9921	0.36030	0.614:0.0:0.386:0.0	.	.	.	.	S	2	.	ENSP00000432024:N139S	N	+	2	0	DDHD2	38216954	0.996000	0.38824	0.998000	0.56505	0.992000	0.81027	0.411000	0.21115	0.107000	0.17824	0.533000	0.62120	AAC		0.323	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		9	17	0	0	0	1	0	9	17					G	38097797	A	G	38097797	2	3	48	1	0	0	0	0	0	0	0	1	4329	40	2	4		4	DDHD2	8	38097797	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1426004	38097797	108266225	2114	6582										
LETM2	137994	broad.mit.edu	37	chr8	38257891	38257891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggaacagagccaagatgggCgatgcctctacacagctctc	11	12	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:38257891C>T	ENST00000379957.4	+	5	874	c.747C>T	c.(745-747)ggC>ggT	p.G249G	LETM2_ENST00000527710.1_Silent_p.G35G|LETM2_ENST00000524874.1_Silent_p.G201G|LETM2_ENST00000523983.2_Silent_p.G202G|RP11-350N15.3_ENST00000533301.1_RNA|LETM2_ENST00000297720.5_Silent_p.G154G	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	249	LETM1.					integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CCAAGATGGGCGATGCCTCTA	0.438																																						ENST00000379957.4																			0				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(745-747)ggC>ggT		leucine zipper-EF-hand containing transmembrane protein 2							127	103	111					8																	38257891		2203	4300	6503	SO:0001819	synonymous_variant	137994					integral to membrane|mitochondrial inner membrane		g.chr8:38257891C>T	AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"EF-hand domain containing"	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.747C>T	8.37:g.38257891C>T			Somatic				LETM2_ENST00000527710.1_Silent_p.G35G|LETM2_ENST00000297720.5_Silent_p.G154G|LETM2_ENST00000524874.1_Silent_p.G201G|LETM2_ENST00000523983.2_Silent_p.G202G	p.G249G	NM_001199659.1	NP_001186588.1	WXS	Illumina GAIIx	Phase_I	Q2VYF4	LETM2_HUMAN	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)		5	874	+	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	249			LETM1.		A6NMG3|Q8NCR2|Q96LL1	Silent	SNP	ENST00000379957.4	37	c.747C>T																																																																																					0.438	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		27	36	0	0	0	1	0	27	36					T	38257891	C	T	38257891	2	4	48	1	0	0	0	0	0	0	0	1	8744	755	27	1		1	LETM2	8	38257891	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	160094	38257891	108106131	2115	6583										
ADAM18	8749	broad.mit.edu	37	chr8	39537563	39537563	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttccacttccagggatgttCtctgtggaaaattagcttgt	9	8	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:39537563C>A	ENST00000265707.5	+	16	1684	c.1639C>A	c.(1639-1641)Ctc>Atc	p.L547I	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.L523I	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	547	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)			CAGGGATGTTCTCTGTGGAAA	0.338																																						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.(1639-1641)Ctc>Atc		ADAM metallopeptidase domain 18							83	78	80					8																	39537563		2203	4300	6503	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39537563C>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.1639C>A	8.37:g.39537563C>A	ENSP00000265707:p.Leu547Ile		Somatic				ADAM18_ENST00000379866.1_Missense_Mutation_p.L523I|ADAM18_ENST00000541111.1_5'UTR	p.L547I	NM_014237.2	NP_055052.1	WXS	Illumina GAIIx	Phase_I	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		16	1684	+		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)	547			Cys-rich.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.1639C>A	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469669	0.63625	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.22945	1.93;1.93	4.33	4.33	0.51752	ADAM, cysteine-rich (2);	0.000000	0.37437	N	0.002092	T	0.34221	0.0890	M	0.72479	2.2	0.80722	D	1	P;P	0.38048	0.562;0.616	B;P	0.44422	0.32;0.449	T	0.03413	-1.1039	10	0.29301	T	0.29	.	12.6441	0.56725	0.0:1.0:0.0:0.0	.	523;547	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	I	547;523;479	ENSP00000265707:L547I;ENSP00000369195:L523I	ENSP00000265707:L547I	L	+	1	0	ADAM18	39656720	0.998000	0.40836	1.000000	0.80357	0.960000	0.62799	0.977000	0.29475	2.711000	0.92665	0.655000	0.94253	CTC		0.338	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		9	13	1	0	1.12685e-05	1	1.24509e-05	9	13					A	39537563	C	A	39537563	3	1	48	1	0	0	0	0	1	0	0	0	239	913	32	2	1701	2	ADAM18	8	39537563	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1279672	39537563	106826459	2116	6584										
GOLGA7	51125	broad.mit.edu	37	chr8	41355133	41355133	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgaaggttgtttggcttgtTtaacagcatataccatcttc	8	8	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:41355133T>G	ENST00000357743.4	+	2	418	c.217T>G	c.(217-219)Tta>Gta	p.L73V	GOLGA7_ENST00000405786.2_Missense_Mutation_p.L73V|GOLGA7_ENST00000520817.1_Missense_Mutation_p.L73V|GOLGA7_ENST00000518270.1_Missense_Mutation_p.L73V	NM_001002296.1	NP_001002296.1	Q7Z5G4	GOGA7_HUMAN	golgin A7	73					Golgi to plasma membrane protein transport (GO:0043001)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)				breast(1)|large_intestine(1)	2	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			TTTGGCTTGTTTAACAGCATA	0.388																																						ENST00000357743.4																			0				breast(1)|large_intestine(1)	2						c.(217-219)Tta>Gta		golgin A7							156	157	156					8																	41355133		2203	4300	6503	SO:0001583	missense	51125					Golgi membrane		g.chr8:41355133T>G	AF125102	CCDS34887.1, CCDS55226.1	8p11.21	2011-10-25	2010-02-12		ENSG00000147533	ENSG00000147533			24876	protein-coding gene	gene with protein product		609453	"golgi autoantigen, golgin subfamily a, 7"			11042152	Standard	NM_001174124		Approved	GCP16, HSPC041, GOLGA3AP1, GOLGA7A	uc003xnu.3	Q7Z5G4	OTTHUMG00000164077	ENST00000357743.4:c.217T>G	8.37:g.41355133T>G	ENSP00000350378:p.Leu73Val		Somatic				GOLGA7_ENST00000405786.2_Missense_Mutation_p.L73V|GOLGA7_ENST00000520817.1_Missense_Mutation_p.L73V|GOLGA7_ENST00000518270.1_Missense_Mutation_p.L73V	p.L73V	NM_001002296.1	NP_001002296.1	WXS	Illumina GAIIx	Phase_I	Q7Z5G4	GOGA7_HUMAN	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)		2	418	+	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	73					D3DSX9|J3KQ24|Q96EQ4|Q9P1S0|Q9Y5U7	Missense_Mutation	SNP	ENST00000357743.4	37	c.217T>G	CCDS34887.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.474642	0.43942	.	.	ENSG00000147533	ENST00000518270;ENST00000520817;ENST00000405786;ENST00000357743	.	.	.	5.65	3.26	0.37387	Golgin subfamily A member 7/ERF4 (1);	0.063520	0.64402	D	0.000010	T	0.62332	0.2419	M	0.71581	2.175	0.45718	D	0.998625	B	0.21071	0.051	B	0.34093	0.175	T	0.57230	-0.7847	9	0.44086	T	0.13	-1.6705	8.9687	0.35892	0.0:0.2266:0.0:0.7734	.	73	Q7Z5G4	GOGA7_HUMAN	V	73	.	ENSP00000276530:L73V	L	+	1	2	GOLGA7	41474290	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.042000	0.30303	0.417000	0.25871	0.528000	0.53228	TTA		0.388	GOLGA7-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377142.1	NM_016099		46	79	0	0	0	1	0	46	79					G	41355133	T	G	41355133	3	3	48	1	0	0	0	0	1	0	0	0	6569	1838	64	4	223	4	GOLGA7	8	41355133	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1817570	41355133	105008889	2117	6585										
ANK1	286	broad.mit.edu	37	chr8	41530024	41530024	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcttagaacctggcagcttCtcttctgacctctgaccttc	6	15	4	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:41530024C>A	ENST00000347528.4	-	38	5027	c.4944G>T	c.(4942-4944)gaG>gaT	p.E1648D	ANK1_ENST00000265709.8_Missense_Mutation_p.E1689D|ANK1_ENST00000396942.1_Missense_Mutation_p.E1648D|ANK1_ENST00000352337.4_Missense_Mutation_p.E1648D|ANK1_ENST00000289734.7_Missense_Mutation_p.E1648D|ANK1_ENST00000396945.1_Missense_Mutation_p.E1648D|ANK1_ENST00000379758.2_Missense_Mutation_p.E1648D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1648	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)			CTGGCAGCTTCTCTTCTGACC	0.537																																						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.(4942-4944)gaG>gaT		ankyrin 1, erythrocytic							238	217	224					8																	41530024		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.chr8:41530024C>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.4944G>T	8.37:g.41530024C>A	ENSP00000339620:p.Glu1648Asp		Somatic				ANK1_ENST00000265709.8_Missense_Mutation_p.E1689D|ANK1_ENST00000289734.7_Missense_Mutation_p.E1648D|ANK1_ENST00000352337.4_Missense_Mutation_p.E1648D|ANK1_ENST00000347528.4_Missense_Mutation_p.E1648D|ANK1_ENST00000396945.1_Missense_Mutation_p.E1648D|ANK1_ENST00000379758.2_Missense_Mutation_p.E1648D	p.E1648D			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	5027	-	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)	1648			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4944G>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266106	0.80358	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.24	5.24	0.73138	.	0.202601	0.32401	N	0.006152	T	0.15262	0.0368	N	0.08118	0	0.27895	N	0.939179	P;B;P;B	0.41848	0.739;0.435;0.763;0.417	B;B;B;B	0.38500	0.275;0.073;0.153;0.215	T	0.09997	-1.0649	10	0.18710	T	0.47	.	11.7187	0.51670	0.0:0.9191:0.0:0.0809	.	1689;1648;1648;1648	P16157-21;P16157;P16157-5;P16157-3	.;ANK1_HUMAN;.;.	D	1648;1648;1648;1648;1648;1648;1689	ENSP00000339620:E1648D;ENSP00000289734:E1648D;ENSP00000369082:E1648D;ENSP00000380149:E1648D;ENSP00000380147:E1648D;ENSP00000309131:E1648D;ENSP00000265709:E1689D	ENSP00000265709:E1689D	E	-	3	2	ANK1	41649181	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.413000	0.44618	2.635000	0.89317	0.552000	0.68991	GAG		0.537	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		86	130	1	0	2.00703e-41	1	2.9019e-41	86	130					A	41530024	C	A	41530024	3	1	48	1	0	0	0	0	1	0	0	0	620	912	32	2	1047	2	ANK1	8	41530024	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	174891	41530024	104833998	2118	6586										
ANK1	286	broad.mit.edu	37	chr8	41753901	41753901	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcggtcacgggagcggtttCtccgcttcctgttggattcc	12	12	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:41753901C>A	ENST00000265709.8	-	1	379	c.98G>T	c.(97-99)aGa>aTa	p.R33I		NM_001142446.1	NP_001135918.1	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	458	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)			GGAGCGGTTTCTCCGCTTCCT	0.627																																						ENST00000265709.8																			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.(97-99)aGa>aTa		ankyrin 1, erythrocytic							66	60	62					8																	41753901		1568	3582	5150	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.chr8:41753901C>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	ENST00000265709.8:c.98G>T	8.37:g.41753901C>A	ENSP00000265709:p.Arg33Ile		Somatic					p.R33I	NM_001142446.1	NP_001135918.1	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)		1	379	-	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)	458			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000265709.8	37	c.98G>T	CCDS47849.1	.	.	.	.	.	.	.	.	.	.	c	22.7	4.319436	0.81469	.	.	ENSG00000029534	ENST00000265709	T	0.65549	-0.16	3.67	3.67	0.42095	.	.	.	.	.	T	0.62344	0.2420	.	.	.	0.80722	D	1	P	0.52061	0.95	P	0.50708	0.648	T	0.59043	-0.7528	8	0.18276	T	0.48	.	15.3595	0.74460	0.0:1.0:0.0:0.0	.	33	P16157-21	.	I	33	ENSP00000265709:R33I	ENSP00000265709:R33I	R	-	2	0	ANK1	41873058	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	4.192000	0.58378	1.572000	0.49736	0.486000	0.48141	AGA		0.627	ANK1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377171.1	NM_020475		18	17	1	0	1.00905e-13	1	1.29777e-13	18	17					A	41753901	C	A	41753901	3	1	48	1	0	0	0	0	1	0	0	0	620	913	32	2	6199	2	ANK1	8	41753901	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	223877	41753901	104610121	2119	6587										
IKBKB	3551	broad.mit.edu	37	chr8	42173742	42173742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccacagtgtcctggctgagcGactggagaagtggctgcaac	14	11	0	2	rs200841053		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:42173742G>A	ENST00000520810.1	+	10	1001	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.R49Q|IKBKB_ENST00000520835.1_Missense_Mutation_p.R270Q|IKBKB_ENST00000416505.2_Missense_Mutation_p.R213Q	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTGGCTGAGCGACTGGAGAAG	0.587													G|||	1	0.000199681	8e-04	0	5008	,	,		18090	0		0	False		,,,				2504	0					ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(814-816)cGa>cAa		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						64	56	59					8																	42173742		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42173742G>A	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.815G>A	8.37:g.42173742G>A	ENSP00000430684:p.Arg272Gln		Somatic				IKBKB_ENST00000379708.3_Missense_Mutation_p.R49Q|IKBKB_ENST00000520835.1_Missense_Mutation_p.R270Q|IKBKB_ENST00000416505.2_Missense_Mutation_p.R213Q|IKBKB_ENST00000522147.1_Intron	p.R272Q	NM_001556.2	NP_001547.1	WXS	Illumina GAIIx	Phase_I	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		10	1001	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	272			Protein kinase.		B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.815G>A	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736214	0.49045	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.65364	-0.15;-0.15;-0.15;2.98	5.27	4.4	0.53042	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.124112	0.51477	D	0.000100	T	0.35595	0.0937	N	0.10760	0.04	0.09310	N	1	B;B;B;B;B;B	0.30114	0.002;0.227;0.005;0.269;0.165;0.269	B;B;B;B;B;B	0.26202	0.003;0.027;0.004;0.067;0.046;0.046	T	0.18335	-1.0340	10	0.13108	T	0.6	.	9.2585	0.37597	0.2262:0.0:0.7738:0.0	.	213;270;49;223;272;272	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920;Q32ND9	.;.;.;.;IKKB_HUMAN;.	Q	272;213;270;49	ENSP00000430684:R272Q;ENSP00000404920:R213Q;ENSP00000430868:R270Q;ENSP00000369030:R49Q	ENSP00000369030:R49Q	R	+	2	0	IKBKB	42292899	0.085000	0.21516	0.179000	0.23059	0.598000	0.36846	0.966000	0.29331	1.225000	0.43566	0.563000	0.77884	CGA		0.587	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			18	34	0	0	0	1	0	18	34					A	42173742	G	A	42173742	3	1	48	1	0	0	0	0	1	0	0	0	7620	1058	37	1	849	1	IKBKB	8	42173742	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	419841	42173742	104190280	2120	6588										
SLC20A2	6575	broad.mit.edu	37	chr8	42329719	42329719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatggtttctcctactttggCgcctagtaacacggagccgg	11	11	1	0	rs575073679		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:42329719C>T	ENST00000342228.3	-	2	559	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	SLC20A2_ENST00000520179.1_Missense_Mutation_p.A64T|SLC20A2_ENST00000520262.1_Missense_Mutation_p.A64T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	64					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCTACTTTGGCGCCTAGTAAC	0.512													C|||	1	0.000199681	8e-04	0	5008	,	,		17899	0		0	False		,,,				2504	0					ENST00000342228.3																			0				breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26						c.(190-192)Gcc>Acc		solute carrier family 20 (phosphate transporter), member 2							282	252	262					8																	42329719		2203	4300	6503	SO:0001583	missense	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42329719C>T		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"Solute carriers"	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.190G>A	8.37:g.42329719C>T	ENSP00000340465:p.Ala64Thr		Somatic				SLC20A2_ENST00000520262.1_Missense_Mutation_p.A64T|SLC20A2_ENST00000520179.1_Missense_Mutation_p.A64T	p.A64T	NM_006749.4	NP_006740.1	WXS	Illumina GAIIx	Phase_I	Q08357	S20A2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		2	559	-	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	64						Missense_Mutation	SNP	ENST00000342228.3	37	c.190G>A	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213836	0.79352	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179;ENST00000518717;ENST00000517366	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.91774	0.7398	L	0.38692	1.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91128	0.4935	10	0.44086	T	0.13	-32.2442	17.6287	0.88100	0.0:1.0:0.0:0.0	.	64	Q08357	S20A2_HUMAN	T	64	ENSP00000340465:A64T;ENSP00000429754:A64T;ENSP00000429712:A64T;ENSP00000430166:A64T;ENSP00000427756:A64T	ENSP00000340465:A64T	A	-	1	0	SLC20A2	42448876	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.818000	0.86416	2.763000	0.94921	0.591000	0.81541	GCC		0.512	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			90	180	0	0	0	1	0	90	180					T	42329719	C	T	42329719	3	4	48	1	0	0	0	0	1	0	0	0	14454	768	27	1	1808	1	SLC20A2	8	42329719	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	155977	42329719	104034303	2121	6589										
CHRNA6	8973	broad.mit.edu	37	chr8	42611406	42611406	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acgatggacagtgtgacaaaGatcatggtgaacagcaggta	13	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:42611406G>T	ENST00000276410.2	-	5	1291	c.936C>A	c.(934-936)atC>atA	p.I312I	CHRNA6_ENST00000534622.1_Silent_p.I297I|CHRNA6_ENST00000530869.1_5'Flank	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	312					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)	GTGTGACAAAGATCATGGTGA	0.507																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(934-936)atC>atA		cholinergic receptor, nicotinic, alpha 6 (neuronal)							102	87	93					8																	42611406		2203	4300	6503	SO:0001819	synonymous_variant	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611406G>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.936C>A	8.37:g.42611406G>T			Somatic				CHRNA6_ENST00000534622.1_Silent_p.I297I	p.I312I	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	1291	-	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)	312					B2R8V4|B4DQH1	Silent	SNP	ENST00000276410.2	37	c.936C>A	CCDS6135.1																																																																																				0.507	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			26	48	1	0	4.47668e-21	1	6.17272e-21	26	48					T	42611406	G	T	42611406	2	4	48	1	0	0	0	0	0	0	0	1	3389	932	33	2		2	CHRNA6	8	42611406	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	281687	42611406	103752616	2122	6590										
RNF170	81790	broad.mit.edu	37	chr8	42711377	42711377	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcaataaaaagatgacaaaGaaatcatctagaaagcctag	7	6	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:42711377G>T	ENST00000534961.1	-	7	1178	c.702C>A	c.(700-702)ttC>ttA	p.F234L	RNF170_ENST00000527424.1_Missense_Mutation_p.F234L|RNF170_ENST00000319104.3_Intron|RNF170_ENST00000526349.1_Missense_Mutation_p.F150L|RNF170_ENST00000319073.4_Missense_Mutation_p.F138L	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	ring finger protein 170	234					protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AGATGACAAAGAAATCATCTA	0.318																																						ENST00000534961.1																			0				lung(3)	3						c.(700-702)ttC>ttA		ring finger protein 170							66	71	70					8																	42711377		2203	4300	6503	SO:0001583	missense	81790					integral to membrane	zinc ion binding	g.chr8:42711377G>T	AL136620	CCDS6138.1, CCDS55229.1, CCDS55230.1	8p11.21	2014-01-29				ENSG00000120925		"RING-type (C3HC4) zinc fingers"	25358	protein-coding gene	gene with protein product		614649	"sensory ataxia 1 (autosomal dominant)"	SNAX1		11230166, 21115467	Standard	NR_027668		Approved	DKFZP564A022, ADSA	uc003xpm.3	Q96K19		ENST00000534961.1:c.702C>A	8.37:g.42711377G>T	ENSP00000445725:p.Phe234Leu		Somatic				RNF170_ENST00000527424.1_Missense_Mutation_p.F234L|RNF170_ENST00000319104.3_Intron|RNF170_ENST00000526349.1_Missense_Mutation_p.F150L|RNF170_ENST00000319073.4_Missense_Mutation_p.F138L	p.F234L	NM_001160223.1	NP_001153695.1	WXS	Illumina GAIIx	Phase_I	Q96K19	RN170_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		7	1178	-	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	234					D3DSY6|E9PIL4|Q7Z483|Q86YC0|Q8IXR7|Q8N2B5|Q8N5G9|Q8NG30|Q9H0V6	Missense_Mutation	SNP	ENST00000534961.1	37	c.702C>A	CCDS6138.1	.	.	.	.	.	.	.	.	.	.	G	8.526	0.869794	0.17322	.	.	ENSG00000120925	ENST00000534961;ENST00000319073;ENST00000527424;ENST00000526349	T;T;T;D	0.85339	-1.44;-0.9;-1.44;-1.97	6.08	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.79690	0.4489	N	0.03000	-0.44	0.80722	D	1	D;B	0.71674	0.998;0.002	D;B	0.76071	0.987;0.005	T	0.76162	-0.3060	10	0.05620	T	0.96	-5.2878	15.3819	0.74664	0.0665:0.0:0.9335:0.0	.	138;234	Q96K19-4;Q96K19	.;RN170_HUMAN	L	234;138;234;150	ENSP00000445725:F234L;ENSP00000325969:F138L;ENSP00000434797:F234L;ENSP00000435782:F150L	ENSP00000325969:F138L	F	-	3	2	RNF170	42830534	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.166000	0.71896	1.591000	0.50007	-0.136000	0.14681	TTC		0.318	RNF170-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383166.1	NM_030954		26	39	1	0	2.79863e-10	1	3.42475e-10	26	39					T	42711377	G	T	42711377	3	4	48	1	0	0	0	0	1	0	0	0	13477	933	33	2	289	2	RNF170	8	42711377	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	99971	42711377	103652645	2123	6591										
HGSNAT	138050	broad.mit.edu	37	chr8	43047473	43047473	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttggtcctgggggcattgGagattttggcaagtatccaa	13	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:43047473G>T	ENST00000458501.2	+	13	1361	c.1361G>T	c.(1360-1362)gGa>gTa	p.G454V	HGSNAT_ENST00000379644.4_Missense_Mutation_p.G426V|HGSNAT_ENST00000521576.1_Missense_Mutation_p.G143V|HGSNAT_ENST00000297798.7_Missense_Mutation_p.G158V			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	454					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GGGGGCATTGGAGATTTTGGC	0.483																																						ENST00000458501.2																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13						c.(1360-1362)gGa>gTa		heparan-alpha-glucosaminide N-acetyltransferase							65	63	64					8																	43047473		1935	4142	6077	SO:0001583	missense	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43047473G>T		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"transmembrane protein 76"	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1361G>T	8.37:g.43047473G>T	ENSP00000389524:p.Gly454Val		Somatic				HGSNAT_ENST00000379644.4_Missense_Mutation_p.G426V|HGSNAT_ENST00000521576.1_Missense_Mutation_p.G143V|HGSNAT_ENST00000297798.7_Missense_Mutation_p.G158V	p.G454V			WXS	Illumina GAIIx	Phase_I	Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		13	1361	+	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)	454					B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	37	c.1361G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.357946|4.357946	0.82243|0.82243	.|.	.|.	ENSG00000165102|ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000521576;ENST00000297798|ENST00000524016	D;D;D;D|.	0.88586|.	-2.4;-2.4;-2.4;-2.4|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75236|0.75236	0.3822|0.3822	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.66351|.	0.943|.	T|T	0.75847|0.75847	-0.3173|-0.3173	10|5	0.42905|.	T|.	0.14|.	-12.0854|-12.0854	16.1626|16.1626	0.81731|0.81731	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	454|.	Q68CP4|.	HGNAT_HUMAN|.	V|C	454;426;143;158|127	ENSP00000389524:G454V;ENSP00000368965:G426V;ENSP00000429029:G143V;ENSP00000297798:G158V|.	ENSP00000297798:G158V|.	G|W	+|+	2|3	0|0	HGSNAT|HGSNAT	43166630|43166630	1.000000|1.000000	0.71417|0.71417	0.894000|0.894000	0.35097|0.35097	0.790000|0.790000	0.44656|0.44656	9.028000|9.028000	0.93712|0.93712	2.405000|2.405000	0.81733|0.81733	0.579000|0.579000	0.79373|0.79373	GGA|TGG		0.483	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		3	16	1	0	0.115264	1	0.116507	3	16					T	43047473	G	T	43047473	3	4	48	1	0	0	0	0	1	0	0	0	7097	1174	41	2	1327	2	HGSNAT	8	43047473	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	336096	43047473	103316549	2124	6592										
KIAA0146	23514	broad.mit.edu	37	chr8	48586455	48586455	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagacagttggaagggaagtCttgcagcctggtgggaatga	16	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:48586455C>A	ENST00000297423.4	+	11	2021	c.1637C>A	c.(1636-1638)tCt>tAt	p.S546Y	SPIDR_ENST00000517693.1_Missense_Mutation_p.S21Y|SPIDR_ENST00000518074.1_Missense_Mutation_p.S486Y|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.S476Y	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	546					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)											GAAGGGAAGTCTTGCAGCCTG	0.473																																						ENST00000297423.4																			0											c.(1636-1638)tCt>tAt		scaffolding protein involved in DNA repair							116	121	119					8																	48586455		1956	4144	6100	SO:0001583	missense	23514							g.chr8:48586455C>A	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.1637C>A	8.37:g.48586455C>A	ENSP00000297423:p.Ser546Tyr		Somatic				SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_Missense_Mutation_p.S21Y|SPIDR_ENST00000541342.1_Missense_Mutation_p.S476Y|SPIDR_ENST00000518074.1_Missense_Mutation_p.S486Y	p.S546Y	NM_001080394.2	NP_001073863.1	WXS	Illumina GAIIx	Phase_I					11	2021	+								B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.1637C>A	CCDS43737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.70|11.70	1.718088|1.718088	0.30503|0.30503	.|.	.|.	ENSG00000164808|ENSG00000164808	ENST00000519401|ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362	.|.	.|.	.|.	5.34|5.34	1.38|1.38	0.22167|0.22167	.|.	.|0.556675	.|0.18432	.|N	.|0.141411	T|T	0.39809|0.39809	0.1092|0.1092	L|L	0.53249|0.53249	1.67|1.67	0.26947|0.26947	N|N	0.966111|0.966111	.|P;P;P;P;P;P;P;P	.|0.47191	.|0.834;0.834;0.73;0.891;0.773;0.763;0.834;0.891	.|B;B;B;P;B;P;B;P	.|0.51355	.|0.325;0.325;0.316;0.667;0.165;0.549;0.246;0.667	T|T	0.33523|0.33523	-0.9865|-0.9865	5|9	.|0.02654	.|T	.|1	.|.	8.5481|8.5481	0.33435|0.33435	0.0:0.465:0.4504:0.0847|0.0:0.465:0.4504:0.0847	.|.	.|36;51;486;476;546;235;21;546	.|B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B4DFT3;B3KP42;Q14159	.|.;.;.;.;.;.;.;K0146_HUMAN	I|Y	228|546;486;476;51;21;21	.|.	.|ENSP00000297423:S546Y	L|S	+|+	1|2	0|0	KIAA0146|KIAA0146	48749008|48749008	0.677000|0.677000	0.27577|0.27577	0.302000|0.302000	0.25058|0.25058	0.658000|0.658000	0.38924|0.38924	0.279000|0.279000	0.18771|0.18771	-0.027000|-0.027000	0.13873|0.13873	-0.226000|-0.226000	0.12346|0.12346	CTT|TCT		0.473	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		19	44	1	0	1.01871e-10	1	1.25646e-10	19	44					A	48586455	C	A	48586455	3	1	48	1	0	0	0	0	1	0	0	0	8166	913	32	2	1679	2	KIAA0146	8	48586455	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5538982	48586455	97777567	2125	6593										
PXDNL	137902	broad.mit.edu	37	chr8	52287292	52287292	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacctggagagccgtacaacCtggaacagagacaggcagac	12	12	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:52287292C>T	ENST00000356297.4	-	18	3658		c.e18-1		PXDNL_ENST00000543296.1_Splice_Site	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like						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)				GCCGTACAACCTGGAACAGAG	0.468																																						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.e18-1		peroxidasin homolog (Drosophila)-like							54	53	54					8																	52287292		2025	4202	6227	SO:0001630	splice_region_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52287292C>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.3558-1G>A	8.37:g.52287292C>T			Somatic				PXDNL_ENST00000543296.1_Splice_Site		NM_144651.4	NP_653252.3	WXS	Illumina GAIIx	Phase_I	A1KZ92	PXDNL_HUMAN			18	3658	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)						B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Splice_Site	SNP	ENST00000356297.4	37		CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305874	0.40795	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	.	.	.	4.46	3.58	0.41010	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.147	0.42769	0.0:0.8998:0.0:0.1002	.	.	.	.	.	-1	.	.	.	-	.	.	PXDNL	52449845	1.000000	0.71417	0.020000	0.16555	0.027000	0.11550	5.103000	0.64578	0.879000	0.35944	0.655000	0.94253	.		0.468	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	Intron	12	18	0	0	0	1	0	12	18					T	52287292	C	T	52287292	5	4	48	1	0	0	0	0	0	0	1	0	12863	695	24	3	858	3	PXDNL	8	52287292	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3700837	52287292	94076730	2126	6594										
PXDNL	137902	broad.mit.edu	37	chr8	52469436	52469436	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagtcctttaaatgtttgcTtatctagtgcatggatttca	8	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:52469436T>G	ENST00000356297.4	-	4	444	c.344A>C	c.(343-345)aAg>aCg	p.K115T	PXDNL_ENST00000543296.1_Missense_Mutation_p.K115T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	115					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)				AAATGTTTGCTTATCTAGTGC	0.284																																						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.(343-345)aAg>aCg		peroxidasin homolog (Drosophila)-like							68	66	66					8																	52469436		1804	4064	5868	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52469436T>G		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.344A>C	8.37:g.52469436T>G	ENSP00000348645:p.Lys115Thr		Somatic				PXDNL_ENST00000543296.1_Missense_Mutation_p.K115T	p.K115T	NM_144651.4	NP_653252.3	WXS	Illumina GAIIx	Phase_I	A1KZ92	PXDNL_HUMAN			4	444	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	115					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.344A>C	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	T	9.605	1.129733	0.21041	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.51817	0.69;0.69	4.8	3.69	0.42338	.	.	.	.	.	T	0.33673	0.0871	L	0.28608	0.87	0.18873	N	0.999988	P	0.36183	0.542	B	0.38755	0.281	T	0.11665	-1.0578	9	0.15499	T	0.54	.	7.6744	0.28478	0.0:0.0:0.291:0.709	.	115	A1KZ92	PXDNL_HUMAN	T	115	ENSP00000348645:K115T;ENSP00000444865:K115T	ENSP00000348645:K115T	K	-	2	0	PXDNL	52631989	0.025000	0.19082	0.855000	0.33649	0.921000	0.55340	0.592000	0.23984	1.800000	0.52685	0.528000	0.53228	AAG		0.284	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		15	24	0	0	0	1	0	15	24					G	52469436	T	G	52469436	3	3	48	1	0	0	0	0	1	0	0	0	12863	1609	56	4	4127	4	PXDNL	8	52469436	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	182144	52469436	93894586	2127	6595										
PCMTD1	115294	broad.mit.edu	37	chr8	52773557	52773557	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catgcttccaggctaagtctTtgtaagcattgtctctgtag	9	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:52773557T>G	ENST00000360540.5	-	3	561	c.155A>C	c.(154-156)aAa>aCa	p.K52T	PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000521344.1_Missense_Mutation_p.K52T|PCMTD1_ENST00000522514.1_Missense_Mutation_p.K52T|PCMTD1_ENST00000519559.1_Intron	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	52						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGCTAAGTCTTTGTAAGCATT	0.408																																						ENST00000360540.5																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(154-156)aAa>aCa		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1							120	109	113					8																	52773557		2203	4300	6503	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52773557T>G		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.155A>C	8.37:g.52773557T>G	ENSP00000353739:p.Lys52Thr		Somatic				PCMTD1_ENST00000522514.1_Missense_Mutation_p.K52T|PCMTD1_ENST00000521344.1_Missense_Mutation_p.K52T|PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000519559.1_Intron	p.K52T	NM_052937.2	NP_443169.2	WXS	Illumina GAIIx	Phase_I	Q96MG8	PCMD1_HUMAN			3	561	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	52					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.155A>C	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.434677	0.83885	.	.	ENSG00000168300	ENST00000360540;ENST00000522514;ENST00000521344	T;T;T	0.40756	1.02;1.02;1.02	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	L	0.50333	1.59	0.80722	D	1	P	0.47191	0.891	P	0.49999	0.628	T	0.35101	-0.9802	10	0.29301	T	0.29	-38.6132	15.8734	0.79141	0.0:0.0:0.0:1.0	.	52	Q96MG8	PCMD1_HUMAN	T	52	ENSP00000353739:K52T;ENSP00000428099:K52T;ENSP00000430168:K52T	ENSP00000353739:K52T	K	-	2	0	PCMTD1	52936110	1.000000	0.71417	0.998000	0.56505	0.900000	0.52787	7.517000	0.81783	2.204000	0.70986	0.528000	0.53228	AAA		0.408	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		18	38	0	0	0	1	0	18	38					G	52773557	T	G	52773557	3	3	48	1	0	0	0	0	1	0	0	0	11595	1841	64	4	938	4	PCMTD1	8	52773557	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	304121	52773557	93590465	2128	6596										
RGS20	8601	broad.mit.edu	37	chr8	54791868	54791868	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccgccgccccgaagctgttCggcctcctttctagcccgct	9	20	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:54791868C>T	ENST00000297313.3	+	2	308	c.216C>T	c.(214-216)ttC>ttT	p.F72F	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	72					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)			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)			CGAAGCTGTTCGGCCTCCTTT	0.647																																						ENST00000297313.3																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(214-216)ttC>ttT		regulator of G-protein signaling 20							97	122	113					8																	54791868		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.chr8:54791868C>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.216C>T	8.37:g.54791868C>T			Somatic				RGS20_ENST00000344277.6_Intron	p.F72F	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	308	+			72					Q96BG9	Silent	SNP	ENST00000297313.3	37	c.216C>T	CCDS6155.1																																																																																				0.647	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			68	158	0	0	0	1	0	68	158					T	54791868	C	T	54791868	2	4	48	1	0	0	0	0	0	0	0	1	13318	883	31	1		1	RGS20	8	54791868	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2018311	54791868	91572154	2129	6597										
RP1	6101	broad.mit.edu	37	chr8	55541124	55541124	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggagaaactaagatggtaaAaatgatggtgaaaactatgg	12	2	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:55541124A>C	ENST00000220676.1	+	4	4830	c.4682A>C	c.(4681-4683)aAa>aCa	p.K1561T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1561					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)			AAGATGGTAAAAATGATGGTG	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.(4681-4683)aAa>aCa		retinitis pigmentosa 1 (autosomal dominant)							51	54	53					8																	55541124		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.chr8:55541124A>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.4682A>C	8.37:g.55541124A>C	ENSP00000220676:p.Lys1561Thr		Somatic					p.K1561T	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	4830	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1561						Missense_Mutation	SNP	ENST00000220676.1	37	c.4682A>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379358	0.61845	.	.	ENSG00000104237	ENST00000220676	T	0.67171	-0.25	5.84	3.45	0.39498	.	0.116232	0.38381	N	0.001717	T	0.74846	0.3770	M	0.61703	1.905	0.30410	N	0.779182	D	0.76494	0.999	P	0.62435	0.902	T	0.74450	-0.3661	10	0.87932	D	0	-22.8633	10.4295	0.44398	0.8666:0.0:0.1334:0.0	.	1561	P56715	RP1_HUMAN	T	1561	ENSP00000220676:K1561T	ENSP00000220676:K1561T	K	+	2	0	RP1	55703677	1.000000	0.71417	0.992000	0.48379	0.922000	0.55478	2.678000	0.46900	1.040000	0.40099	0.533000	0.62120	AAA		0.363	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		17	17	0	0	0	1	0	17	17					C	55541124	A	C	55541124	3	2	48	1	0	0	0	0	1	0	0	0	13547	14	1	4	4692	4	RP1	8	55541124	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	749256	55541124	90822898	2130	6598										
RP1	6101	broad.mit.edu	37	chr8	55541339	55541339	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatttgttaaaagggcaataGaaaaactgtacggtaaagca	10	4	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:55541339G>T	ENST00000220676.1	+	4	5045	c.4897G>T	c.(4897-4899)Gaa>Taa	p.E1633*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1633					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)			AAGGGCAATAGAAAAACTGTA	0.383																																					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.(4897-4899)Gaa>Taa		retinitis pigmentosa 1 (autosomal dominant)							85	88	87					8																	55541339		2203	4299	6502	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.chr8:55541339G>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.4897G>T	8.37:g.55541339G>T	ENSP00000220676:p.Glu1633*		Somatic					p.E1633*	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	5045	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1633						Nonsense_Mutation	SNP	ENST00000220676.1	37	c.4897G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	45	11.359758	0.99551	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.74	5.74	0.90152	.	0.000000	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.1167	19.9351	0.97137	0.0:0.0:1.0:0.0	.	.	.	.	X	1633	.	ENSP00000220676:E1633X	E	+	1	0	RP1	55703892	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.607000	0.82883	2.703000	0.92315	0.655000	0.94253	GAA		0.383	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		29	62	1	0	1.68575e-08	1	1.99097e-08	29	62					T	55541339	G	T	55541339	4	4	48	1	0	0	0	0	0	1	0	0	13547	943	33	2	4907	2	RP1	8	55541339	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	215	55541339	90822683	2131	6599										
RP1	6101	broad.mit.edu	37	chr8	55542167	55542167	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggaagctgactctttggatAaactgtatgctctttgtggt	11	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:55542167A>G	ENST00000220676.1	+	4	5873	c.5725A>G	c.(5725-5727)Aaa>Gaa	p.K1909E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1909					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)			CTCTTTGGATAAACTGTATGC	0.398																																					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.(5725-5727)Aaa>Gaa		retinitis pigmentosa 1 (autosomal dominant)							96	94	95					8																	55542167		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.chr8:55542167A>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.5725A>G	8.37:g.55542167A>G	ENSP00000220676:p.Lys1909Glu		Somatic					p.K1909E	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	5873	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1909						Missense_Mutation	SNP	ENST00000220676.1	37	c.5725A>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.429650	0.62844	.	.	ENSG00000104237	ENST00000220676	T	0.59083	0.29	5.91	5.91	0.95273	.	0.000000	0.53938	D	0.000053	T	0.65004	0.2650	M	0.71581	2.175	0.27549	N	0.95055	D	0.53619	0.961	P	0.47206	0.541	T	0.66822	-0.5826	10	0.87932	D	0	.	16.3453	0.83126	1.0:0.0:0.0:0.0	.	1909	P56715	RP1_HUMAN	E	1909	ENSP00000220676:K1909E	ENSP00000220676:K1909E	K	+	1	0	RP1	55704720	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.422000	0.59854	2.261000	0.74972	0.533000	0.62120	AAA		0.398	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		29	40	0	0	0	1	0	29	40					G	55542167	A	G	55542167	3	3	48	1	0	0	0	0	1	0	0	0	13547	363	13	4	5735	4	RP1	8	55542167	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	828	55542167	90821855	2132	6600										
TMEM68	137695	broad.mit.edu	37	chr8	56668917	56668917	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatagctccatgataaaaaaTtataagtgctggtccatctt	6	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:56668917T>G	ENST00000434581.2	-	4	578	c.379A>C	c.(379-381)Att>Ctt	p.I127L	TMEM68_ENST00000334667.2_Missense_Mutation_p.I127L|TMEM68_ENST00000523073.1_Missense_Mutation_p.I13L|TMEM68_ENST00000519784.1_Missense_Mutation_p.I13L			Q96MH6	TMM68_HUMAN	transmembrane protein 68	127						integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TGATAAAAAATTATAAGTGCT	0.303																																						ENST00000434581.2																			0				NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(379-381)Att>Ctt		transmembrane protein 68							62	68	66					8																	56668917		2202	4296	6498	SO:0001583	missense	137695					integral to membrane	acyltransferase activity	g.chr8:56668917T>G	AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.379A>C	8.37:g.56668917T>G	ENSP00000395204:p.Ile127Leu		Somatic				TMEM68_ENST00000523073.1_Missense_Mutation_p.I13L|TMEM68_ENST00000334667.2_Missense_Mutation_p.I127L|TMEM68_ENST00000519784.1_Missense_Mutation_p.I13L	p.I127L			WXS	Illumina GAIIx	Phase_I	Q96MH6	TMM68_HUMAN	Epithelial(17;0.000361)|all cancers(17;0.00326)		4	578	-			127					Q658X6|Q8WUD2	Missense_Mutation	SNP	ENST00000434581.2	37	c.379A>C		.	.	.	.	.	.	.	.	.	.	T	16.99	3.275048	0.59649	.	.	ENSG00000167904	ENST00000434581;ENST00000334667;ENST00000519784;ENST00000523073;ENST00000519780;ENST00000522090;ENST00000523423	D;D;D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5;-4.5;-4.5	5.57	4.41	0.53225	Phospholipid/glycerol acyltransferase (2);	0.058498	0.64402	D	0.000003	D	0.95079	0.8406	M	0.67700	2.07	0.80722	D	1	B;B	0.31351	0.32;0.044	B;B	0.27796	0.083;0.05	D	0.91769	0.5426	10	0.56958	D	0.05	-18.6368	3.0433	0.06145	0.188:0.1792:0.0:0.6328	.	127;127	Q96MH6-2;Q96MH6	.;TMM68_HUMAN	L	127;127;13;13;13;127;127	ENSP00000395204:I127L;ENSP00000335416:I127L;ENSP00000428688:I13L;ENSP00000429026:I13L;ENSP00000429667:I13L;ENSP00000430542:I127L	ENSP00000335416:I127L	I	-	1	0	TMEM68	56831471	1.000000	0.71417	0.957000	0.39632	0.994000	0.84299	4.936000	0.63506	0.934000	0.37316	0.482000	0.46254	ATT		0.303	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378137.1	NM_152417		12	29	0	0	0	1	0	12	29					G	56668917	T	G	56668917	3	3	48	1	0	0	0	0	1	0	0	0	16212	1493	52	4	406	4	TMEM68	8	56668917	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1126750	56668917	89695105	2133	6601										
LYN	4067	broad.mit.edu	37	chr8	56882318	56882318	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagcgatgaaggtggcaaagTgctgcttccaaagctcattg	13	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:56882318T>C	ENST00000519728.1	+	10	1312	c.1016T>C	c.(1015-1017)gTg>gCg	p.V339A	LYN_ENST00000420292.1_3'UTR|LYN_ENST00000520220.2_Missense_Mutation_p.V318A	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	339	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	GGTGGCAAAGTGCTGCTTCCA	0.428																																						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.(952-954)gTg>gCg		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							167	163	164					8																	56882318		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.chr8:56882318T>C	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.1016T>C	8.37:g.56882318T>C	ENSP00000428924:p.Val339Ala		Somatic				LYN_ENST00000519728.1_Missense_Mutation_p.V339A|LYN_ENST00000420292.1_3'UTR	p.V318A	NM_001111097.2	NP_001104567.1	WXS	Illumina GAIIx	Phase_I	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		10	1227	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	339			Protein kinase.		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.953T>C	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.259876	0.80246	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.11712	2.75;2.75	5.95	5.95	0.96441	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.268088	0.37955	N	0.001880	T	0.19967	0.0480	L	0.55103	1.725	0.46260	D	0.998955	B;B	0.27166	0.17;0.008	B;B	0.39590	0.304;0.22	T	0.01879	-1.1255	10	0.87932	D	0	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	409;339	Q6NUK7;P07948	.;LYN_HUMAN	A	339;318	ENSP00000428924:V339A;ENSP00000428424:V318A	ENSP00000428924:V339A	V	+	2	0	LYN	57044872	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	8.023000	0.88764	2.281000	0.76405	0.528000	0.53228	GTG		0.428	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		21	52	0	0	0	1	0	21	52					C	56882318	T	C	56882318	3	2	48	1	0	0	0	0	1	0	0	0	9116	1696	59	4	1050	4	LYN	8	56882318	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	213401	56882318	89481704	2134	6602										
LYN	4067	broad.mit.edu	37	chr8	56922551	56922551	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgcccagatgagctctatgAcattatgaaaatgtgctgga	10	8	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:56922551A>C	ENST00000519728.1	+	13	1717	c.1421A>C	c.(1420-1422)gAc>gCc	p.D474A	LYN_ENST00000520220.2_Missense_Mutation_p.D453A	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	474	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	GAGCTCTATGACATTATGAAA	0.502																																						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.(1357-1359)gAc>gCc		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							88	80	82					8																	56922551		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.chr8:56922551A>C	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.1421A>C	8.37:g.56922551A>C	ENSP00000428924:p.Asp474Ala		Somatic				LYN_ENST00000519728.1_Missense_Mutation_p.D474A	p.D453A	NM_001111097.2	NP_001104567.1	WXS	Illumina GAIIx	Phase_I	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		13	1632	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	474			Protein kinase.		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.1358A>C	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230954	0.58777	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.13089	2.62;2.62	6.07	6.07	0.98685	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.398854	0.31358	N	0.007800	T	0.11196	0.0273	N	0.17082	0.46	0.49389	D	0.99978	B;B	0.18863	0.031;0.0	B;B	0.16289	0.015;0.003	T	0.08391	-1.0724	10	0.54805	T	0.06	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	544;474	Q6NUK7;P07948	.;LYN_HUMAN	A	474;453	ENSP00000428924:D474A;ENSP00000428424:D453A	ENSP00000428924:D474A	D	+	2	0	LYN	57085105	1.000000	0.71417	0.987000	0.45799	0.978000	0.69477	5.140000	0.64807	2.326000	0.78906	0.533000	0.62120	GAC		0.502	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		18	74	0	0	0	1	0	18	74					C	56922551	A	C	56922551	3	2	48	1	0	0	0	0	1	0	0	0	9116	275	10	4	1467	4	LYN	8	56922551	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	40233	56922551	89441471	2135	6603										
CYP7A1	1581	broad.mit.edu	37	chr8	59409553	59409553	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acatcactcggtagcagaaaGaatacatcccttctgtcacc	6	13	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:59409553G>T	ENST00000301645.3	-	3	655	c.518C>A	c.(517-519)tCt>tAt	p.S173Y		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	173					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)				GTAGCAGAAAGAATACATCCC	0.453									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.(517-519)tCt>tAt		cytochrome P450, family 7, subfamily A, polypeptide 1							137	135	135					8																	59409553		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.chr8:59409553G>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.518C>A	8.37:g.59409553G>T	ENSP00000301645:p.Ser173Tyr		Somatic					p.S173Y	NM_000780.3	NP_000771.2	WXS	Illumina GAIIx	Phase_I	P22680	CP7A1_HUMAN			3	655	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	173					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.518C>A	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356019	0.61293	.	.	ENSG00000167910	ENST00000301645	T	0.69685	-0.42	5.5	5.5	0.81552	.	0.270403	0.42172	D	0.000742	T	0.74589	0.3736	M	0.61703	1.905	0.32739	N	0.507957	D	0.56521	0.976	P	0.55508	0.777	T	0.79339	-0.1844	10	0.40728	T	0.16	-7.0852	15.379	0.74637	0.0:0.0:0.86:0.14	.	173	P22680	CP7A1_HUMAN	Y	173	ENSP00000301645:S173Y	ENSP00000301645:S173Y	S	-	2	0	CYP7A1	59572107	0.983000	0.35010	0.993000	0.49108	0.609000	0.37215	2.773000	0.47686	2.747000	0.94245	0.462000	0.41574	TCT		0.453	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		32	101	1	0	3.67414e-24	1	5.15076e-24	32	101					T	59409553	G	T	59409553	3	4	48	1	0	0	0	0	1	0	0	0	4198	942	33	2	1012	2	CYP7A1	8	59409553	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2487002	59409553	86954469	2136	6604										
TOX	9760	broad.mit.edu	37	chr8	59764207	59764207	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcccatattcaaaccaagtTgagcacttagctgtgactgg	8	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:59764207T>C	ENST00000361421.1	-	4	789	c.569A>G	c.(568-570)cAa>cGa	p.Q190R		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	190						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CAAACCAAGTTGAGCACTTAG	0.522																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(568-570)cAa>cGa		thymocyte selection-associated high mobility group box							146	120	129					8																	59764207		2203	4300	6503	SO:0001583	missense	9760					nucleus	DNA binding	g.chr8:59764207T>C		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.569A>G	8.37:g.59764207T>C	ENSP00000354842:p.Gln190Arg		Somatic					p.Q190R	NM_014729.2	NP_055544.1	WXS	Illumina GAIIx	Phase_I	O94900	TOX_HUMAN			4	789	-		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)	190					Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	c.569A>G	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.726563	0.69074	.	.	ENSG00000198846	ENST00000361421	T	0.22134	1.97	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.31544	0.0800	M	0.75085	2.285	0.43965	D	0.99664	P	0.49185	0.92	B	0.44224	0.444	T	0.09487	-1.0672	9	.	.	.	.	16.1852	0.81946	0.0:0.0:0.0:1.0	.	190	O94900	TOX_HUMAN	R	190	ENSP00000354842:Q190R	.	Q	-	2	0	TOX	59926761	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	4.179000	0.58290	2.223000	0.72356	0.454000	0.30748	CAA		0.522	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		13	27	0	0	0	1	0	13	27					C	59764207	T	C	59764207	3	2	48	1	0	0	0	0	1	0	0	0	16392	1812	63	4	1035	4	TOX	8	59764207	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	354654	59764207	86599815	2137	6605										
CA8	767	broad.mit.edu	37	chr8	61193682	61193682	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcggggaaggcgacggtatCttcgatgaagctcaggtccg	15	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:61193682C>A	ENST00000317995.4	-	1	289	c.25G>T	c.(25-27)Gat>Tat	p.D9Y		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	9					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)	GCGACGGTATCTTCGATGAAG	0.677																																						ENST00000317995.4																			0				endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16						c.(25-27)Gat>Tat		carbonic anhydrase VIII							73	57	63					8																	61193682		2186	4291	6477	SO:0001583	missense	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61193682C>A	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"Carbonic anhydrases"	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.25G>T	8.37:g.61193682C>A	ENSP00000314407:p.Asp9Tyr		Somatic					p.D9Y	NM_004056.4	NP_004047.3	WXS	Illumina GAIIx	Phase_I	P35219	CAH8_HUMAN			1	289	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)	9					A8K0A5|B3KQZ7|Q32MY2	Missense_Mutation	SNP	ENST00000317995.4	37	c.25G>T	CCDS6174.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716550	0.48622	.	.	ENSG00000178538	ENST00000317995	T	0.69040	-0.37	3.64	3.64	0.41730	.	0.139017	0.46442	D	0.000297	T	0.48624	0.1510	N	0.22421	0.69	0.44366	D	0.997264	B	0.33583	0.418	B	0.20384	0.029	T	0.56878	-0.7906	10	0.62326	D	0.03	.	13.4703	0.61278	0.0:1.0:0.0:0.0	.	9	P35219	CAH8_HUMAN	Y	9	ENSP00000314407:D9Y	ENSP00000314407:D9Y	D	-	1	0	CA8	61356236	0.813000	0.29090	0.996000	0.52242	0.707000	0.40811	2.973000	0.49264	1.748000	0.51833	0.462000	0.41574	GAT		0.677	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			6	10	1	0	0.217242	1	0.218251	6	10					A	61193682	C	A	61193682	3	1	48	1	0	0	0	0	1	0	0	0	2525	913	32	2	879	2	CA8	8	61193682	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1429475	61193682	85170340	2138	6606										
YTHDF3	253943	broad.mit.edu	37	chr8	64099024	64099024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacacaaagttctgcttataGtagcagttatggctatccac	7	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:64099024G>A	ENST00000539294.1	+	4	768	c.452G>A	c.(451-453)aGt>aAt	p.S151N	YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000542911.2_5'UTR|YTHDF3_ENST00000521674.1_3'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	152							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			TCTGCTTATAGTAGCAGTTAT	0.433																																						ENST00000539294.1																			0											c.(451-453)aGt>aAt		YTH domain family, member 3							72	69	70					8																	64099024		1931	4164	6095	SO:0001583	missense	253943							g.chr8:64099024G>A	BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"YTH domain family 3"			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.452G>A	8.37:g.64099024G>A	ENSP00000473496:p.Ser151Asn		Somatic				YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_5'UTR	p.S151N	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	WXS	Illumina GAIIx	Phase_I	Q7Z739	YTHD3_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		4	768	+	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	152					B3KXL4|Q63Z37|Q659A3	Missense_Mutation	SNP	ENST00000539294.1	37	c.452G>A																																																																																					0.433	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152758		10	26	0	0	0	1	0	10	26					A	64099024	G	A	64099024	3	1	48	1	0	0	0	0	1	0	0	0	17515	1029	36	3	468	3	YTHDF3	8	64099024	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2905342	64099024	82264998	2139	6607										
TRIM55	84675	broad.mit.edu	37	chr8	67047346	67047346	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggtgtttggtgcacacaaaGactgccaggtggctcccctc	12	12	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:67047346G>T	ENST00000315962.4	+	3	836	c.463G>T	c.(463-465)Gac>Tac	p.D155Y	TRIM55_ENST00000353317.5_Missense_Mutation_p.D155Y|TRIM55_ENST00000276573.7_Missense_Mutation_p.D155Y|TRIM55_ENST00000350034.4_Missense_Mutation_p.D155Y	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	155					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGCACACAAAGACTGCCAGGT	0.572																																						ENST00000315962.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39						c.(463-465)Gac>Tac		tripartite motif containing 55							189	158	169					8																	67047346		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67047346G>T	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	14215	protein-coding gene	gene with protein product		606469	"ring finger protein 29", "tripartite motif-containing 55"	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.463G>T	8.37:g.67047346G>T	ENSP00000323913:p.Asp155Tyr		Somatic				TRIM55_ENST00000350034.4_Missense_Mutation_p.D155Y|TRIM55_ENST00000353317.5_Missense_Mutation_p.D155Y|TRIM55_ENST00000276573.7_Missense_Mutation_p.D155Y	p.D155Y	NM_184085.1	NP_908973.1	WXS	Illumina GAIIx	Phase_I	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		3	836	+		Lung NSC(129;0.138)|all_lung(136;0.221)	155					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.463G>T	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430908	0.83776	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.65	5.65	0.86999	Zinc finger, B-box (3);	0.138035	0.64402	D	0.000004	T	0.78742	0.4331	M	0.91249	3.19	0.58432	D	0.999991	D;D;P;P	0.62365	0.991;0.982;0.888;0.878	D;P;P;P	0.63703	0.917;0.891;0.89;0.847	T	0.83082	-0.0137	10	0.87932	D	0	.	12.9879	0.58602	0.0737:0.0:0.9263:0.0	.	155;155;155;155	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	Y	155	ENSP00000323913:D155Y;ENSP00000297348:D155Y;ENSP00000276573:D155Y;ENSP00000332302:D155Y	ENSP00000276573:D155Y	D	+	1	0	TRIM55	67209900	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.029000	0.88807	2.667000	0.90743	0.655000	0.94253	GAC		0.572	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		36	82	1	0	3.33393e-15	1	4.38315e-15	36	82					T	67047346	G	T	67047346	3	4	48	1	0	0	0	0	1	0	0	0	16544	942	33	2	473	2	TRIM55	8	67047346	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2948322	67047346	79316676	2140	6608										
TRIM55	84675	broad.mit.edu	37	chr8	67064644	67064644	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagaagaagaagaaggcggaGaaggagaaaaagaaggagaa	16	1	0	8			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:67064644G>T	ENST00000315962.4	+	8	1391	c.1018G>T	c.(1018-1020)Gaa>Taa	p.E340*	TRIM55_ENST00000353317.5_Nonsense_Mutation_p.E340*|TRIM55_ENST00000276573.7_Nonsense_Mutation_p.E340*|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	340					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			agaaggcggagaaggagaaaa	0.418																																						ENST00000315962.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39						c.(1018-1020)Gaa>Taa		tripartite motif containing 55							34	32	33					8																	67064644		2203	4300	6503	SO:0001587	stop_gained	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67064644G>T	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	14215	protein-coding gene	gene with protein product		606469	"ring finger protein 29", "tripartite motif-containing 55"	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1018G>T	8.37:g.67064644G>T	ENSP00000323913:p.Glu340*		Somatic				TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Nonsense_Mutation_p.E340*|TRIM55_ENST00000276573.7_Nonsense_Mutation_p.E340*	p.E340*	NM_184085.1	NP_908973.1	WXS	Illumina GAIIx	Phase_I	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		8	1391	+		Lung NSC(129;0.138)|all_lung(136;0.221)	340					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Nonsense_Mutation	SNP	ENST00000315962.4	37	c.1018G>T	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040407	0.75732	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	.	.	.	2.36	2.36	0.29203	.	0.651463	0.16604	N	0.207186	.	.	.	.	.	.	0.23056	N	0.998367	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	8.3958	0.32557	0.0:0.0:1.0:0.0	.	.	.	.	X	340	.	ENSP00000276573:E340X	E	+	1	0	TRIM55	67227198	0.530000	0.26330	0.051000	0.19133	0.223000	0.24884	1.523000	0.35932	1.698000	0.51180	0.650000	0.86243	GAA		0.418	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		9	11	1	0	0.000274275	1	0.000292037	9	11					T	67064644	G	T	67064644	4	4	48	1	0	0	0	0	0	1	0	0	16544	943	33	2	1048	2	TRIM55	8	67064644	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	17298	67064644	79299378	2141	6609										
MYBL1	4603	broad.mit.edu	37	chr8	67488572	67488572	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagaagcagcagcatcagaAatatcaaaactggtaacgtc	10	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:67488572A>C	ENST00000522677.3	-	10	1550	c.1140T>G	c.(1138-1140)atT>atG	p.I380M	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Missense_Mutation_p.I380M	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	380	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	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)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CAGCATCAGAAATATCAAAAC	0.378																																						ENST00000522677.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25						c.(1138-1140)atT>atG		v-myb avian myeloblastosis viral oncogene homolog-like 1							128	122	124					8																	67488572		1874	4125	5999	SO:0001583	missense	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67488572A>C	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1140T>G	8.37:g.67488572A>C	ENSP00000429633:p.Ile380Met		Somatic				MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Missense_Mutation_p.I380M	p.I380M	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	WXS	Illumina GAIIx	Phase_I	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		10	1550	-			380			Negative regulatory domain (By similarity).		E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	c.1140T>G	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.926499	0.34002	.	.	ENSG00000185697	ENST00000522677;ENST00000524176	T;T	0.17854	2.74;2.25	5.5	4.28	0.50868	.	0.266976	0.37623	N	0.002004	T	0.06416	0.0165	N	0.03608	-0.345	0.23913	N	0.99648	B;B;B	0.23735	0.006;0.09;0.006	B;B;B	0.24006	0.005;0.05;0.003	T	0.15009	-1.0452	10	0.44086	T	0.13	-9.2907	3.066	0.06214	0.6352:0.1475:0.0757:0.1416	.	380;379;380	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	M	380	ENSP00000429633:I380M;ENSP00000428011:I380M	ENSP00000429633:I380M	I	-	3	3	MYBL1	67651126	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.565000	0.23578	2.102000	0.63906	0.482000	0.46254	ATT		0.378	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		59	92	0	0	0	1	0	59	92					C	67488572	A	C	67488572	3	2	48	1	0	0	0	0	1	0	0	0	10018	10	1	4	1146	4	MYBL1	8	67488572	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	423928	67488572	78875450	2142	6610										
SGK3	23678	broad.mit.edu	37	chr8	67710856	67710856	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagtttgataaactttataAcactgtaagtaatcgtctac	6	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:67710856A>C	ENST00000396596.1	+	3	390	c.176A>C	c.(175-177)aAc>aCc	p.N59T	SGK3_ENST00000345714.4_Missense_Mutation_p.N59T|SGK3_ENST00000522398.1_Missense_Mutation_p.N59T|SGK3_ENST00000520976.1_Missense_Mutation_p.N59T|SGK3_ENST00000521198.2_Missense_Mutation_p.N59T|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.N59T	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	59	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAACTTTATAACACTGTAAGT	0.308																																						ENST00000396596.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(175-177)aAc>aCc		serum/glucocorticoid regulated kinase family, member 3							141	152	148					8																	67710856		2203	4299	6502	SO:0001583	missense	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67710856A>C		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"serum/glucocorticoid regulated kinase-like"	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.176A>C	8.37:g.67710856A>C	ENSP00000379842:p.Asn59Thr		Somatic				SGK3_ENST00000345714.4_Missense_Mutation_p.N59T|SGK3_ENST00000520976.1_Missense_Mutation_p.N59T|SGK3_ENST00000522398.1_Missense_Mutation_p.N59T|SGK3_ENST00000521198.2_Missense_Mutation_p.N59T|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.N59T	p.N59T	NM_013257.4	NP_037389.4	WXS	Illumina GAIIx	Phase_I	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		3	390	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	59			PX.		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	c.176A>C	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.641674	0.67244	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000522629;ENST00000520976;ENST00000396596;ENST00000518388;ENST00000345714	T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.71	5.71	0.89125	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	L	0.41961	1.31	0.47994	D	0.999564	B;B	0.26512	0.125;0.151	B;B	0.26416	0.041;0.069	T	0.35624	-0.9781	9	0.23302	T	0.38	.	14.9539	0.71098	1.0:0.0:0.0:0.0	.	59;59	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	T	59	ENSP00000429022:N59T;ENSP00000430463:N59T;ENSP00000430256:N59T;ENSP00000429606:N59T;ENSP00000430691:N59T;ENSP00000379842:N59T;ENSP00000428972:N59T;ENSP00000331816:N59T	ENSP00000262211:N59T	N	+	2	0	SGK3	67873410	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.398000	0.90195	2.165000	0.68154	0.528000	0.53228	AAC		0.308	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			46	61	0	0	0	1	0	46	61					C	67710856	A	C	67710856	3	2	48	1	0	0	0	0	1	0	0	0	14227	43	2	4	182	4	SGK3	8	67710856	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	222284	67710856	78653166	2143	6611										
ARFGEF1	10565	broad.mit.edu	37	chr8	68111283	68111283	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agttcaggaatcaagtcaaaTtgcataatttcacataagag	7	6	4	1	rs371347759		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:68111283T>C	ENST00000262215.3	-	39	5825	c.5436A>G	c.(5434-5436)caA>caG	p.Q1812Q	ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000520381.1_Intron	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1812					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)			TCAAGTCAAATTGCATAATTT	0.383																																						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.(5434-5436)caA>caG		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)		T		1,4405	2.1+/-5.4	0,1,2202	129	125	127		5436	-1.2	1	8		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARFGEF1	NM_006421.4		0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154		1812/1850	68111283	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68111283T>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.5436A>G	8.37:g.68111283T>C			Somatic				ARFGEF1_ENST00000520381.1_Intron|ARFGEF1_ENST00000517955.1_5'UTR	p.Q1812Q	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)		39	5825	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1812					Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	ENST00000262215.3	37	c.5436A>G	CCDS6199.1																																																																																				0.383	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		23	55	0	0	0	1	0	23	55					C	68111283	T	C	68111283	2	2	48	1	0	0	0	0	0	0	0	1	852	1490	52	4		4	ARFGEF1	8	68111283	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	400427	68111283	78252739	2144	6612										
ARFGEF1	10565	broad.mit.edu	37	chr8	68183948	68183948	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaacgtacctcaatttgcaTcttcagatgtgtcttgaaat	6	8	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:68183948T>C	ENST00000262215.3	-	10	1950	c.1561A>G	c.(1561-1563)Atg>Gtg	p.M521V		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	521					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)			TCAATTTGCATCTTCAGATGT	0.318																																						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.(1561-1563)Atg>Gtg		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							46	47	47					8																	68183948		2203	4299	6502	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68183948T>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.1561A>G	8.37:g.68183948T>C	ENSP00000262215:p.Met521Val		Somatic					p.M521V	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)		10	1950	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	521					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.1561A>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	t	17.89	3.500191	0.64298	.	.	ENSG00000066777	ENST00000262215	T	0.63580	-0.05	5.44	5.44	0.79542	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	L	0.38175	1.15	0.80722	D	1	P	0.36660	0.564	B	0.43889	0.435	T	0.59461	-0.7450	10	0.36615	T	0.2	.	15.5	0.75691	0.0:0.0:0.0:1.0	.	521	Q9Y6D6	BIG1_HUMAN	V	521	ENSP00000262215:M521V	ENSP00000262215:M521V	M	-	1	0	ARFGEF1	68346502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.617000	0.83032	2.058000	0.61347	0.477000	0.44152	ATG		0.318	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		10	24	0	0	0	1	0	10	24					C	68183948	T	C	68183948	3	2	48	1	0	0	0	0	1	0	0	0	852	1435	50	4	4108	4	ARFGEF1	8	68183948	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	72665	68183948	78180074	2145	6613										
SULF1	23213	broad.mit.edu	37	chr8	70512901	70512901	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attatgcagtacacaggaccAatgctgcccatccacatgga	8	12	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:70512901A>G	ENST00000260128.4	+	9	1515	c.798A>G	c.(796-798)ccA>ccG	p.P266P	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Silent_p.P266P|SULF1_ENST00000458141.2_Silent_p.P266P|SULF1_ENST00000402687.4_Silent_p.P266P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	266					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)			ACACAGGACCAATGCTGCCCA	0.393																																						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.(796-798)ccA>ccG		sulfatase 1							157	148	151					8																	70512901		2203	4300	6503	SO:0001819	synonymous_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70512901A>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.798A>G	8.37:g.70512901A>G			Somatic				SULF1_ENST00000458141.2_Silent_p.P266P|SULF1_ENST00000419716.3_Silent_p.P266P|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Silent_p.P266P	p.P266P	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)		9	1515	+	Breast(64;0.0654)		266					Q86YV8|Q8NCA2|Q9UPS5	Silent	SNP	ENST00000260128.4	37	c.798A>G	CCDS6204.1																																																																																				0.393	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		43	59	0	0	0	1	0	43	59					G	70512901	A	G	70512901	2	3	48	1	0	0	0	0	0	0	0	1	15385	117	5	4		4	SULF1	8	70512901	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2328953	70512901	75851121	2146	6614										
SULF1	23213	broad.mit.edu	37	chr8	70515435	70515435	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcccctttacagagtcccacAgatcgttctcaacattgact	6	14	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:70515435A>C	ENST00000260128.4	+	11	1787	c.1070A>C	c.(1069-1071)cAg>cCg	p.Q357P	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.Q357P|SULF1_ENST00000458141.2_Missense_Mutation_p.Q357P|SULF1_ENST00000402687.4_Missense_Mutation_p.Q357P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	357					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)			AGAGTCCCACAGATCGTTCTC	0.542																																						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.(1069-1071)cAg>cCg		sulfatase 1							235	204	215					8																	70515435		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.chr8:70515435A>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.1070A>C	8.37:g.70515435A>C	ENSP00000260128:p.Gln357Pro		Somatic				SULF1_ENST00000458141.2_Missense_Mutation_p.Q357P|SULF1_ENST00000419716.3_Missense_Mutation_p.Q357P|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.Q357P	p.Q357P	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)		11	1787	+	Breast(64;0.0654)		357					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1070A>C	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.584273	0.86748	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07	6.17	6.17	0.99709	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.049512	0.85682	D	0.000000	D	0.97673	0.9237	L	0.53617	1.68	0.80722	D	1	B	0.22146	0.065	B	0.32393	0.145	D	0.96001	0.8993	10	0.48119	T	0.1	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	357	Q8IWU6	SULF1_HUMAN	P	357	ENSP00000403040:Q357P;ENSP00000260128:Q357P;ENSP00000385704:Q357P;ENSP00000390315:Q357P	ENSP00000260128:Q357P	Q	+	2	0	SULF1	70677989	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	CAG		0.542	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		68	139	0	0	0	1	0	68	139					C	70515435	A	C	70515435	3	2	48	1	0	0	0	0	1	0	0	0	15385	188	7	4	1096	4	SULF1	8	70515435	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2534	70515435	75848587	2147	6615										
TRAM1	23471	broad.mit.edu	37	chr8	71495556	71495556	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaatggatgccagaacagcGattctaagaaatattaagac	8	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:71495556G>T	ENST00000262213.2	-	10	1063	c.894C>A	c.(892-894)atC>atA	p.I298I	TRAM1_ENST00000536748.1_Silent_p.I267I|TRAM1_ENST00000521049.1_5'Flank|TRAM1_ENST00000521425.1_Silent_p.I212I	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	298	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			CCAGAACAGCGATTCTAAGAA	0.348																																					Ovarian(85;984 1334 5116 12432 40638)	ENST00000521425.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17						c.(634-636)atC>atA		translocation associated membrane protein 1							60	55	57					8																	71495556		2203	4300	6503	SO:0001819	synonymous_variant	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71495556G>T	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.894C>A	8.37:g.71495556G>T			Somatic				TRAM1_ENST00000262213.2_Silent_p.I298I|TRAM1_ENST00000536748.1_Silent_p.I267I	p.I212I			WXS	Illumina GAIIx	Phase_I	Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		10	1672	-			298			TLC.		B4E0K2	Silent	SNP	ENST00000262213.2	37	c.636C>A	CCDS6207.1																																																																																				0.348	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294		8	16	1	0	0.000274275	1	0.000292037	8	16					T	71495556	G	T	71495556	2	4	48	1	0	0	0	0	0	0	0	1	16466	1048	37	2		2	TRAM1	8	71495556	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	980121	71495556	74868466	2148	6616										
JPH1	56704	broad.mit.edu	37	chr8	75156775	75156775	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtacttactgaattggcttCtttttccaaagcagggcatg	9	8	1	1	rs75912309		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:75156775C>A	ENST00000342232.4	-	4	1934	c.1894G>T	c.(1894-1896)Gaa>Taa	p.E632*	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	632					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GAATTGGCTTCTTTTTCCAAA	0.433																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1894-1896)Gaa>Taa		junctophilin 1							154	137	143					8																	75156775		2203	4300	6503	SO:0001587	stop_gained	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75156775C>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1894G>T	8.37:g.75156775C>A	ENSP00000344488:p.Glu632*		Somatic				JPH1_ENST00000518195.1_5'UTR	p.E632*	NM_020647.2	NP_065698.1	WXS	Illumina GAIIx	Phase_I	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		4	1934	-	Breast(64;0.00576)		632					B2RTZ0	Nonsense_Mutation	SNP	ENST00000342232.4	37	c.1894G>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	39	7.480491	0.98309	.	.	ENSG00000104369	ENST00000342232	.	.	.	5.44	5.44	0.79542	.	0.226726	0.37669	N	0.001985	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	19.4628	0.94924	0.0:1.0:0.0:0.0	.	.	.	.	X	632	.	ENSP00000344488:E632X	E	-	1	0	JPH1	75319329	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.919000	0.56439	2.837000	0.97791	0.655000	0.94253	GAA		0.433	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			35	82	1	0	3.6622e-26	1	5.17531e-26	35	82					A	75156775	C	A	75156775	4	1	48	1	0	0	0	0	0	1	0	0	7969	922	32	2	99	2	JPH1	8	75156775	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3661219	75156775	71207247	2149	6617										
FAM164A	51101	broad.mit.edu	37	chr8	79598747	79598747	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attggagaaggaaacatgaaGaattcattgctaccataaga	9	5	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:79598747G>T	ENST00000263849.4	+	4	358	c.256G>T	c.(256-258)Gaa>Taa	p.E86*	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	86							metal ion binding (GO:0046872)										GAAACATGAAGAATTCATTGC	0.363																																						ENST00000263849.4																			0											c.(256-258)Gaa>Taa		zinc finger, C2HC-type containing 1A							64	57	60					8																	79598747		2203	4300	6503	SO:0001587	stop_gained	51101							g.chr8:79598747G>T		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"Zinc fingers, C2HC-type containing"	24277	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 70", "family with sequence similarity 164, member A"	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.256G>T	8.37:g.79598747G>T	ENSP00000263849:p.Glu86*		Somatic				ZC2HC1A_ENST00000521176.1_3'UTR	p.E86*	NM_016010.2	NP_057094.2	WXS	Illumina GAIIx	Phase_I	Q96GY0	F164A_HUMAN			4	358	+			86					Q9Y372	Nonsense_Mutation	SNP	ENST00000263849.4	37	c.256G>T	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	G	37	6.124194	0.97305	.	.	ENSG00000104427	ENST00000263849	.	.	.	5.35	5.35	0.76521	.	0.046777	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-34.0506	19.429	0.94756	0.0:0.0:1.0:0.0	.	.	.	.	X	86	.	.	E	+	1	0	FAM164A	79761302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.116000	0.94341	2.667000	0.90743	0.585000	0.79938	GAA		0.363	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		3	16	1	0	0.004672	1	0.00483628	3	16					T	79598747	G	T	79598747	4	4	48	1	0	0	0	0	0	1	0	0	5483	943	33	2	270	2	FAM164A	8	79598747	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4441972	79598747	66765275	2150	6618										
FAM164A	51101	broad.mit.edu	37	chr8	79601519	79601519	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgcagctgatagacatataAatttctgtaaagaacaggca	8	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:79601519A>C	ENST00000263849.4	+	5	517	c.415A>C	c.(415-417)Aat>Cat	p.N139H	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	139							metal ion binding (GO:0046872)	p.N139H(1)									TAGACATATAAATTTCTGTAA	0.338																																						ENST00000263849.4																			1	Substitution - Missense(1)	p.N139H(1)	large_intestine(1)								c.(415-417)Aat>Cat		zinc finger, C2HC-type containing 1A							65	67	66					8																	79601519		2203	4298	6501	SO:0001583	missense	51101							g.chr8:79601519A>C		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"Zinc fingers, C2HC-type containing"	24277	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 70", "family with sequence similarity 164, member A"	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.415A>C	8.37:g.79601519A>C	ENSP00000263849:p.Asn139His		Somatic				ZC2HC1A_ENST00000521176.1_3'UTR	p.N139H	NM_016010.2	NP_057094.2	WXS	Illumina GAIIx	Phase_I	Q96GY0	F164A_HUMAN			5	517	+			139					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.415A>C	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	A	19.96	3.923063	0.73213	.	.	ENSG00000104427	ENST00000263849	T	0.42513	0.97	5.06	5.06	0.68205	.	0.044508	0.85682	D	0.000000	T	0.62295	0.2416	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.63989	-0.6512	9	.	.	.	-20.8762	14.8005	0.69913	1.0:0.0:0.0:0.0	.	139	Q96GY0	F164A_HUMAN	H	139	ENSP00000263849:N139H	.	N	+	1	0	FAM164A	79764074	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.881000	0.75584	1.910000	0.55303	0.260000	0.18958	AAT		0.338	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		13	29	0	0	0	1	0	13	29					C	79601519	A	C	79601519	3	2	48	1	0	0	0	0	1	0	0	0	5483	14	1	4	433	4	FAM164A	8	79601519	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2772	79601519	66762503	2151	6619										
TPD52	7163	broad.mit.edu	37	chr8	80992558	80992558	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attagtagttaccaaatttcTgaagagtaggtgatccgggt	11	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:80992558T>C	ENST00000379097.3	-	1	493	c.131A>G	c.(130-132)cAg>cGg	p.Q44R	TPD52_ENST00000537855.1_Missense_Mutation_p.Q44R|TPD52_ENST00000518937.1_Intron|TPD52_ENST00000519303.2_Intron|TPD52_ENST00000448733.2_Missense_Mutation_p.Q44R|TPD52_ENST00000379096.5_Intron|TPD52_ENST00000517427.1_Missense_Mutation_p.Q44R|TPD52_ENST00000520527.1_Missense_Mutation_p.Q44R	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	44					anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			ACCAAATTTCTGAAGAGTAGG	0.383																																						ENST00000520527.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8						c.(130-132)cAg>cGg		tumor protein D52							63	64	64					8																	80992558		2203	4300	6503	SO:0001583	missense	7163				anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr8:80992558T>C	U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.131A>G	8.37:g.80992558T>C	ENSP00000368391:p.Gln44Arg		Somatic				TPD52_ENST00000448733.2_Missense_Mutation_p.Q44R|TPD52_ENST00000379097.3_Missense_Mutation_p.Q44R|TPD52_ENST00000518937.1_Intron|TPD52_ENST00000517427.1_Missense_Mutation_p.Q44R|TPD52_ENST00000379096.5_Intron|TPD52_ENST00000537855.1_Missense_Mutation_p.Q44R|TPD52_ENST00000519303.2_Intron	p.Q44R			WXS	Illumina GAIIx	Phase_I	P55327	TPD52_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		1	493	-	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	44					B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Missense_Mutation	SNP	ENST00000379097.3	37	c.131A>G	CCDS34912.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.648111	0.29336	.	.	ENSG00000076554	ENST00000537855;ENST00000520527;ENST00000517427;ENST00000448733;ENST00000543691;ENST00000379097	T;T;T;T;T	0.22539	2.28;1.97;1.97;1.97;1.95	5.38	5.38	0.77491	.	139.961000	0.00465	N	0.000103	T	0.17577	0.0422	N	0.19112	0.55	0.19300	N	0.999974	B	0.06786	0.001	B	0.04013	0.001	T	0.11567	-1.0582	10	0.36615	T	0.2	.	7.6927	0.28577	0.1298:0.0:0.1519:0.7183	.	44	P55327	TPD52_HUMAN	R	44	ENSP00000438113:Q44R;ENSP00000429309:Q44R;ENSP00000429351:Q44R;ENSP00000410222:Q44R;ENSP00000368391:Q44R	ENSP00000368391:Q44R	Q	-	2	0	TPD52	81155113	0.915000	0.31059	0.901000	0.35422	0.987000	0.75469	1.061000	0.30542	2.266000	0.75297	0.472000	0.43445	CAG		0.383	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079		13	20	0	0	0	1	0	13	20					C	80992558	T	C	80992558	3	2	48	1	0	0	0	0	1	0	0	0	16412	1580	55	4	644	4	TPD52	8	80992558	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1391039	80992558	65371464	2152	6620										
ZBTB10	65986	broad.mit.edu	37	chr8	81431737	81431737	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcgatgggatgaatcaggaGaagtttgtatgtctctagat	12	5	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:81431737G>T	ENST00000430430.1	+	7	3369	c.2590G>T	c.(2590-2592)Gaa>Taa	p.E864*	ZBTB10_ENST00000426744.2_Nonsense_Mutation_p.E840*|ZBTB10_ENST00000379091.4_Nonsense_Mutation_p.E572*|ZBTB10_ENST00000455036.3_Nonsense_Mutation_p.E864*	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	864					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(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TGAATCAGGAGAAGTTTGTAT	0.403																																						ENST00000430430.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20						c.(2590-2592)Gaa>Taa		zinc finger and BTB domain containing 10							80	80	80					8																	81431737		1936	4123	6059	SO:0001587	stop_gained	65986				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:81431737G>T	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.2590G>T	8.37:g.81431737G>T	ENSP00000387462:p.Glu864*		Somatic				ZBTB10_ENST00000379091.4_Nonsense_Mutation_p.E572*|ZBTB10_ENST00000455036.3_Nonsense_Mutation_p.E864*|ZBTB10_ENST00000426744.2_Nonsense_Mutation_p.E840*	p.E864*	NM_001277145.1	NP_001264074.1	WXS	Illumina GAIIx	Phase_I	Q96DT7	ZBT10_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		7	3369	+	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		864					A4FVD0|Q86W96|Q8IXI9|Q96MH9	Nonsense_Mutation	SNP	ENST00000430430.1	37	c.2590G>T	CCDS47880.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143024	0.94560	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	.	.	.	5.54	5.54	0.83059	.	0.276149	0.33753	N	0.004584	.	.	.	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	19.4673	0.94948	0.0:0.0:1.0:0.0	.	.	.	.	X	572;864;840;864;690	.	ENSP00000368384:E572X	E	+	1	0	ZBTB10	81594292	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.512000	0.73737	2.607000	0.88179	0.591000	0.81541	GAA		0.403	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		8	11	1	0	0.000442599	1	0.00046913	8	11					T	81431737	G	T	81431737	4	4	48	1	0	0	0	0	0	1	0	0	17538	943	33	2	2612	2	ZBTB10	8	81431737	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	439179	81431737	64932285	2153	6621										
FABP9	646480	broad.mit.edu	37	chr8	82373692	82373692	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atggtatttctcacccagttCtttcatgtaatcctcaaagt	5	10	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:82373692C>A	ENST00000379071.2	-	1	122	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	23					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)			TCACCCAGTTCTTTCATGTAA	0.398																																						ENST00000379071.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(67-69)Gaa>Taa		fatty acid binding protein 9, testis							155	161	159					8																	82373692		2203	4300	6503	SO:0001587	stop_gained	646480						lipid binding|transporter activity	g.chr8:82373692C>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.67G>T	8.37:g.82373692C>A	ENSP00000368362:p.Glu23*		Somatic				RP11-157I4.4_ENST00000524085.2_RNA	p.E23*	NM_001080526.1	NP_001073995.1	WXS	Illumina GAIIx	Phase_I	Q0Z7S8	FABP9_HUMAN	Epithelial(68;0.186)		1	122	-			23						Nonsense_Mutation	SNP	ENST00000379071.2	37	c.67G>T		.	.	.	.	.	.	.	.	.	.	C	36	5.690127	0.96793	.	.	ENSG00000205186	ENST00000379071	.	.	.	5.21	3.41	0.39046	.	0.403315	0.28151	N	0.016415	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	15.2182	0.73288	0.0:0.8392:0.1608:0.0	.	.	.	.	X	23	.	ENSP00000368362:E23X	E	-	1	0	FABP9	82536247	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.324000	0.52022	0.759000	0.33084	0.563000	0.77884	GAA		0.398	FABP9-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379367.2	NM_001080526		9	121	1	0	0.000274275	1	0.000292037	9	121					A	82373692	C	A	82373692	4	1	48	1	0	0	0	0	0	1	0	0	5368	922	32	2	346	2	FABP9	8	82373692	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	941955	82373692	63990330	2154	6622										
RALYL	138046	broad.mit.edu	37	chr8	85774639	85774639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agggggaaaggagtcttttcCatgaaaggtggatcgagatc	15	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:85774639C>T	ENST00000521268.1	+	6	1627	c.522C>T	c.(520-522)tcC>tcT	p.S174S	RALYL_ENST00000523850.1_Silent_p.S101S|RALYL_ENST00000517638.1_Silent_p.S187S|RALYL_ENST00000518566.1_Silent_p.S163S|RALYL_ENST00000521695.1_Silent_p.S174S|RALYL_ENST00000521376.1_Silent_p.S85S|RALYL_ENST00000522455.1_Silent_p.S174S	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	174							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GAGTCTTTTCCATGAAAGGTG	0.483																																						ENST00000521268.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(520-522)tcC>tcT		RALY RNA binding protein-like							70	74	73					8																	85774639		1928	4138	6066	SO:0001819	synonymous_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85774639C>T		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.522C>T	8.37:g.85774639C>T			Somatic				RALYL_ENST00000522455.1_Silent_p.S174S|RALYL_ENST00000523850.1_Silent_p.S101S|RALYL_ENST00000518566.1_Silent_p.S163S|RALYL_ENST00000517638.1_Silent_p.S187S|RALYL_ENST00000521376.1_Silent_p.S85S|RALYL_ENST00000521695.1_Silent_p.S174S	p.S174S	NM_173848.5	NP_776247.3	WXS	Illumina GAIIx	Phase_I	Q86SE5	RALYL_HUMAN			6	1627	+			174					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	ENST00000521268.1	37	c.522C>T	CCDS55253.1																																																																																				0.483	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			13	21	0	0	0	1	0	13	21					T	85774639	C	T	85774639	2	4	48	1	0	0	0	0	0	0	0	1	13035	581	21	3		3	RALYL	8	85774639	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3400947	85774639	60589383	2155	6623										
LRRCC1	85444	broad.mit.edu	37	chr8	86021859	86021859	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attatctttagattcaactcTtcatgccgtcaatcttcatt	3	10	7	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:86021859T>A	ENST00000360375.3	+	2	283	c.134T>A	c.(133-135)cTt>cAt	p.L45H	LRRCC1_ENST00000414626.2_Missense_Mutation_p.L25H	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	45					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GATTCAACTCTTCATGCCGTC	0.274																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(73-75)cTt>cAt		leucine rich repeat and coiled-coil centrosomal protein 1							54	46	48					8																	86021859		1804	4073	5877	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86021859T>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.134T>A	8.37:g.86021859T>A	ENSP00000353538:p.Leu45His		Somatic				LRRCC1_ENST00000360375.3_Missense_Mutation_p.L45H	p.L25H			WXS	Illumina GAIIx	Phase_I	Q9C099	LRCC1_HUMAN			1	963	+			45					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.74T>A	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765103	0.69878	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.54866	0.55;0.59	5.79	5.79	0.91817	.	0.216956	0.23523	N	0.047270	T	0.81187	0.4770	H	0.96996	3.92	0.36337	D	0.859207	D;D	0.89917	1.0;0.999	D;P	0.66497	0.944;0.907	D	0.90207	0.4261	10	0.87932	D	0	-1.5783	15.7903	0.78350	0.0:0.0:0.0:1.0	.	25;45	Q9C099-2;Q9C099	.;LRCC1_HUMAN	H	45;25	ENSP00000353538:L45H;ENSP00000394695:L25H	ENSP00000353538:L45H	L	+	2	0	LRRCC1	86209111	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	7.144000	0.77357	2.205000	0.71048	0.482000	0.46254	CTT		0.274	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		6	11	0	0	0	1	0	6	11					A	86021859	T	A	86021859	3	1	48	1	0	0	0	0	1	0	0	0	9035	1609	56	4	140	4	LRRCC1	8	86021859	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	247220	86021859	60342163	2156	6624										
LRRCC1	85444	broad.mit.edu	37	chr8	86027431	86027431	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaatttgacagaaataaattCatcacagctgcagtgcctag	7	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:86027431C>A	ENST00000360375.3	+	5	790	c.641C>A	c.(640-642)tCa>tAa	p.S214*	LRRCC1_ENST00000414626.2_Nonsense_Mutation_p.S194*	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	214	LRRCT.				mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GAAATAAATTCATCACAGCTG	0.353																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(580-582)tCa>tAa		leucine rich repeat and coiled-coil centrosomal protein 1							96	97	97					8																	86027431		1823	4084	5907	SO:0001587	stop_gained	85444				cell division|mitosis	centriole|nucleus		g.chr8:86027431C>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.641C>A	8.37:g.86027431C>A	ENSP00000353538:p.Ser214*		Somatic				LRRCC1_ENST00000360375.3_Nonsense_Mutation_p.S214*	p.S194*			WXS	Illumina GAIIx	Phase_I	Q9C099	LRCC1_HUMAN			4	1470	+			214			LRRCT.		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Nonsense_Mutation	SNP	ENST00000360375.3	37	c.581C>A	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	C	36	5.818150	0.96982	.	.	ENSG00000133739	ENST00000426019;ENST00000360375;ENST00000414626	.	.	.	5.52	3.58	0.41010	.	1.040790	0.07723	N	0.943872	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1258	7.7103	0.28673	0.0:0.7066:0.1306:0.1628	.	.	.	.	X	121;214;194	.	ENSP00000353538:S214X	S	+	2	0	LRRCC1	86214683	0.093000	0.21703	0.161000	0.22692	0.835000	0.47333	1.047000	0.30367	0.575000	0.29434	0.460000	0.39030	TCA		0.353	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		16	35	1	0	0.000566183	1	0.00059967	16	35					A	86027431	C	A	86027431	4	1	48	1	0	0	0	0	0	1	0	0	9035	838	29	2	659	2	LRRCC1	8	86027431	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5572	86027431	60336591	2157	6625										
ATP6V0D2	245972	broad.mit.edu	37	chr8	87155104	87155104	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatgatcttttttctttttaAgtcttaccttgaggcattct	5	7	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87155104A>C	ENST00000285393.3	+	5	703		c.e5-1		CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2						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						TTTCTTTTTAAGTCTTACCTT	0.303																																						ENST00000285393.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						c.e5-1		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2							116	122	120					8																	87155104		2203	4296	6499	SO:0001630	splice_region_variant	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87155104A>C	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.562-1A>C	8.37:g.87155104A>C			Somatic				CTD-3118D11.2_ENST00000522679.1_RNA		NM_152565.1	NP_689778.1	WXS	Illumina GAIIx	Phase_I	Q8N8Y2	VA0D2_HUMAN			5	703	+									Splice_Site	SNP	ENST00000285393.3	37		CCDS6241.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.111451	0.77210	.	.	ENSG00000147614	ENST00000285393	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9676	0.71208	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP6V0D2	87224220	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	9.055000	0.93873	2.197000	0.70478	0.533000	0.62120	.		0.303	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565	Intron	21	53	0	0	0	1	0	21	53					C	87155104	A	C	87155104	5	2	48	1	0	0	0	0	0	0	1	0	1174	86	3	4	578	4	ATP6V0D2	8	87155104	Splice_Site	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1127673	87155104	59208918	2158	6626										
WWP1	11059	broad.mit.edu	37	chr8	87393822	87393822	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattaggaaaagcaacgataGatttgaaacaagctctgttg	9	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87393822G>A	ENST00000517970.1	+	5	605	c.298G>A	c.(298-300)Gat>Aat	p.D100N	WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000349423.2_Intron|WWP1_ENST00000265428.4_Missense_Mutation_p.D100N|WWP1_ENST00000341922.2_Missense_Mutation_p.D100N	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	100					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						AGCAACGATAGATTTGAAACA	0.333																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(298-300)Gat>Aat		WW domain containing E3 ubiquitin protein ligase 1							62	64	64					8																	87393822		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.chr8:87393822G>A	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.298G>A	8.37:g.87393822G>A	ENSP00000427793:p.Asp100Asn		Somatic				WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000265428.4_Missense_Mutation_p.D100N|WWP1_ENST00000341922.2_Missense_Mutation_p.D100N|WWP1_ENST00000349423.2_Intron	p.D100N	NM_007013.3	NP_008944.1	WXS	Illumina GAIIx	Phase_I	Q9H0M0	WWP1_HUMAN			5	605	+			100					O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.298G>A	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341475	0.41498	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000436619	T;T;T	0.69040	-0.37;-0.37;-0.37	4.83	4.83	0.62350	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.269359	0.35585	N	0.003114	T	0.63177	0.2489	L	0.44542	1.39	0.80722	D	1	P	0.45672	0.864	P	0.44647	0.456	T	0.59558	-0.7432	10	0.16896	T	0.51	.	18.2878	0.90120	0.0:0.0:1.0:0.0	.	100	Q9H0M0	WWP1_HUMAN	N	100	ENSP00000427793:D100N;ENSP00000265428:D100N;ENSP00000340564:D100N	ENSP00000265428:D100N	D	+	1	0	WWP1	87462938	1.000000	0.71417	0.998000	0.56505	0.858000	0.48976	8.715000	0.91416	2.376000	0.81061	0.467000	0.42956	GAT		0.333	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		22	34	0	0	0	1	0	22	34					A	87393822	G	A	87393822	3	1	48	1	0	0	0	0	1	0	0	0	17430	942	33	3	308	3	WWP1	8	87393822	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	238718	87393822	58970200	2159	6627										
WWP1	11059	broad.mit.edu	37	chr8	87460450	87460450	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcgtatgttaagtaaaaaacTtactattaaggatttggaat	8	3	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87460450T>G	ENST00000517970.1	+	19	2379	c.2072T>G	c.(2071-2073)cTt>cGt	p.L691R	WWP1_ENST00000349423.2_Missense_Mutation_p.L473R|WWP1_ENST00000265428.4_Missense_Mutation_p.L691R|WWP1_ENST00000341922.2_Missense_Mutation_p.L561R	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	691	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AGTAAAAAACTTACTATTAAG	0.274																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(2071-2073)cTt>cGt		WW domain containing E3 ubiquitin protein ligase 1							45	46	46					8																	87460450		2192	4271	6463	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.chr8:87460450T>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.2072T>G	8.37:g.87460450T>G	ENSP00000427793:p.Leu691Arg		Somatic				WWP1_ENST00000265428.4_Missense_Mutation_p.L691R|WWP1_ENST00000341922.2_Missense_Mutation_p.L561R|WWP1_ENST00000349423.2_Missense_Mutation_p.L473R	p.L691R	NM_007013.3	NP_008944.1	WXS	Illumina GAIIx	Phase_I	Q9H0M0	WWP1_HUMAN			19	2379	+			691			HECT.		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.2072T>G	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	T	19.17	3.775102	0.70107	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.5	5.5	0.81552	HECT (4);	0.068533	0.56097	D	0.000022	T	0.74642	0.3743	M	0.85945	2.785	0.58432	D	0.999997	D;D	0.61697	0.973;0.99	P;D	0.63793	0.898;0.918	T	0.78692	-0.2105	10	0.72032	D	0.01	.	10.0229	0.42055	0.0:0.0752:0.0:0.9248	.	473;691	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	R	691;691;561;473	ENSP00000427793:L691R;ENSP00000265428:L691R;ENSP00000340564:L561R;ENSP00000342665:L473R	ENSP00000265428:L691R	L	+	2	0	WWP1	87529566	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.256000	0.72473	2.095000	0.63458	0.533000	0.62120	CTT		0.274	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		4	21	0	0	0	1	0	4	21					G	87460450	T	G	87460450	3	3	48	1	0	0	0	0	1	0	0	0	17430	1609	56	4	2138	4	WWP1	8	87460450	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	66628	87460450	58903572	2160	6628										
CNGB3	54714	broad.mit.edu	37	chr8	87588271	87588271	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attttcttttcctttatcttCattttctttttgtttatctt	1	7	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87588271C>A	ENST00000320005.5	-	18	2238	c.2191G>T	c.(2191-2193)Gaa>Taa	p.E731*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	731					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						cctttatcttcattttctttt	0.353																																						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.(2191-2193)Gaa>Taa		cyclic nucleotide gated channel beta 3							136	141	139					8																	87588271		2203	4300	6503	SO:0001587	stop_gained	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87588271C>A	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.2191G>T	8.37:g.87588271C>A	ENSP00000316605:p.Glu731*		Somatic					p.E731*	NM_019098.4	NP_061971.3	WXS	Illumina GAIIx	Phase_I	Q9NQW8	CNGB3_HUMAN			18	2238	-			731					C9JA51|Q9NRE9	Nonsense_Mutation	SNP	ENST00000320005.5	37	c.2191G>T	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723003	0.68959	.	.	ENSG00000170289	ENST00000320005	.	.	.	1.16	1.16	0.20824	.	0.835270	0.10343	U	0.686012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	7.6031	0.28087	0.0:1.0:0.0:0.0	.	.	.	.	X	731	.	ENSP00000316605:E731X	E	-	1	0	CNGB3	87657387	0.995000	0.38212	0.005000	0.12908	0.018000	0.09664	0.602000	0.24134	0.458000	0.26988	0.467000	0.42956	GAA		0.353	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		13	26	1	0	2.27111e-07	1	2.60515e-07	13	26					A	87588271	C	A	87588271	4	1	48	1	0	0	0	0	0	1	0	0	3603	835	29	2	242	2	CNGB3	8	87588271	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	127821	87588271	58775751	2161	6629										
CNGB3	54714	broad.mit.edu	37	chr8	87656060	87656060	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtaataaacacaggcattaAtgtgcagaataaacagcaag	8	6	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87656060A>C	ENST00000320005.5	-	10	1144	c.1097T>G	c.(1096-1098)aTt>aGt	p.I366S		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	366					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						ACAGGCATTAATGTGCAGAAT	0.368																																						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.(1096-1098)aTt>aGt		cyclic nucleotide gated channel beta 3							130	121	124					8																	87656060		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87656060A>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.1097T>G	8.37:g.87656060A>C	ENSP00000316605:p.Ile366Ser		Somatic					p.I366S	NM_019098.4	NP_061971.3	WXS	Illumina GAIIx	Phase_I	Q9NQW8	CNGB3_HUMAN			10	1144	-			366					C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.1097T>G	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179739	0.78564	.	.	ENSG00000170289	ENST00000320005	D	0.97941	-4.62	5.44	5.44	0.79542	.	0.205062	0.38720	N	0.001599	D	0.97898	0.9309	L	0.49126	1.545	0.58432	D	0.999991	D;D	0.62365	0.991;0.983	P;D	0.63703	0.865;0.917	D	0.98959	1.0797	10	0.72032	D	0.01	.	15.8028	0.78468	1.0:0.0:0.0:0.0	.	366;366	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	S	366	ENSP00000316605:I366S	ENSP00000316605:I366S	I	-	2	0	CNGB3	87725176	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.739000	0.91574	2.183000	0.69458	0.533000	0.62120	ATT		0.368	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		25	39	0	0	0	1	0	25	39					C	87656060	A	C	87656060	3	2	48	1	0	0	0	0	1	0	0	0	3603	101	4	4	1368	4	CNGB3	8	87656060	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	67789	87656060	58707962	2162	6630										
CNGB3	54714	broad.mit.edu	37	chr8	87680283	87680283	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgtttggaagtttaattcGctttaagtactctgttaaag	9	5	1	0	rs267606739		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87680283G>A	ENST00000320005.5	-	5	654	c.607C>T	c.(607-609)Cga>Tga	p.R203*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	203			R -> Q (in ACHM3; unknown pathological significance; dbSNP:rs16916632). {ECO:0000269|PubMed:15712225}.		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						AGTTTAATTCGCTTTAAGTAC	0.398																																						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	GRCh37	CM001967	CNGB3	M		c.(607-609)Cga>Tga		cyclic nucleotide gated channel beta 3							238	227	231					8																	87680283		2203	4300	6503	SO:0001587	stop_gained	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87680283G>A	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.607C>T	8.37:g.87680283G>A	ENSP00000316605:p.Arg203*		Somatic					p.R203*	NM_019098.4	NP_061971.3	WXS	Illumina GAIIx	Phase_I	Q9NQW8	CNGB3_HUMAN			5	654	-			203		R -> Q (in ACHM3; uncertain pathogenicity; dbSNP:rs16916632).			C9JA51|Q9NRE9	Nonsense_Mutation	SNP	ENST00000320005.5	37	c.607C>T	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852182	0.51270	.	.	ENSG00000170289	ENST00000320005	.	.	.	6.1	2.86	0.33363	.	1.625600	0.03560	N	0.226891	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7592	0.34665	0.081:0.0:0.3603:0.5588	.	.	.	.	X	203	.	ENSP00000316605:R203X	R	-	1	2	CNGB3	87749399	0.022000	0.18835	0.002000	0.10522	0.017000	0.09413	0.748000	0.26305	0.799000	0.34018	0.650000	0.86243	CGA		0.398	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		45	82	0	0	0	1	0	45	82					A	87680283	G	A	87680283	4	1	48	1	0	0	0	0	0	1	0	0	3603	1095	38	1	1878	1	CNGB3	8	87680283	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	24223	87680283	58683739	2163	6631										
CNBD1	168975	broad.mit.edu	37	chr8	88249206	88249206	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagctcgacctcaaacaaacGtgtataaaaatctgattgaa	6	8	2	2	rs370736889		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:88249206G>T	ENST00000518476.1	+	6	688	c.637G>T	c.(637-639)Gtg>Ttg	p.V213L	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	213										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TCAAACAAACGTGTATAAAAA	0.363																																						ENST00000518476.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						c.(637-639)Gtg>Ttg		cyclic nucleotide binding domain containing 1							145	130	135					8																	88249206		1841	4086	5927	SO:0001583	missense	168975							g.chr8:88249206G>T	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.637G>T	8.37:g.88249206G>T	ENSP00000430073:p.Val213Leu		Somatic				CNBD1_ENST00000522427.1_3'UTR	p.V213L	NM_173538.2	NP_775809.1	WXS	Illumina GAIIx	Phase_I	Q8NA66	CNBD1_HUMAN			6	688	+			213						Missense_Mutation	SNP	ENST00000518476.1	37	c.637G>T	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	G	8.097	0.775874	0.16051	.	.	ENSG00000176571	ENST00000518476	T	0.18338	2.22	4.29	-5.38	0.02673	Cyclic nucleotide-binding-like (1);	3.063890	0.01246	N	0.008756	T	0.11495	0.0280	L	0.46157	1.445	0.09310	N	1	B	0.22414	0.069	B	0.19946	0.027	T	0.23297	-1.0192	10	0.09590	T	0.72	0.0	1.8449	0.03157	0.4471:0.2469:0.181:0.125	.	213	Q8NA66	CNBD1_HUMAN	L	213	ENSP00000430073:V213L	ENSP00000430073:V213L	V	+	1	0	CNBD1	88318322	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.972000	0.01502	-1.289000	0.02375	-0.176000	0.13171	GTG		0.363	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		18	49	1	0	1.33834e-09	1	1.61283e-09	18	49					T	88249206	G	T	88249206	3	4	48	1	0	0	0	0	1	0	0	0	3593	1145	40	5	659	5	CNBD1	8	88249206	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	568923	88249206	58114816	2164	6632										
CNBD1	168975	broad.mit.edu	37	chr8	88365879	88365879	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacagaaaagatctcaaaaaCttgtttatatggggaaactt	7	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:88365879C>A	ENST00000518476.1	+	10	1219	c.1168C>A	c.(1168-1170)Ctt>Att	p.L390I		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	390										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						ATCTCAAAAACTTGTTTATAT	0.318																																						ENST00000518476.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						c.(1168-1170)Ctt>Att		cyclic nucleotide binding domain containing 1							63	62	62					8																	88365879		1801	4065	5866	SO:0001583	missense	168975							g.chr8:88365879C>A	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1168C>A	8.37:g.88365879C>A	ENSP00000430073:p.Leu390Ile		Somatic					p.L390I	NM_173538.2	NP_775809.1	WXS	Illumina GAIIx	Phase_I	Q8NA66	CNBD1_HUMAN			10	1219	+			390						Missense_Mutation	SNP	ENST00000518476.1	37	c.1168C>A	CCDS55259.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.922|9.922	1.212356|1.212356	0.22289|0.22289	.|.	.|.	ENSG00000176571|ENSG00000176571	ENST00000518476|ENST00000523299;ENST00000521593	T|.	0.18338|.	2.22|.	4.98|4.98	3.09|3.09	0.35607|0.35607	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);|.	0.557940|.	0.14840|.	N|.	0.295311|.	T|T	0.40839|0.40839	0.1133|0.1133	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	D|.	0.67145|.	0.996|.	D|.	0.67382|.	0.951|.	T|T	0.25152|0.25152	-1.0140|-1.0140	10|5	0.20046|.	T|.	0.44|.	-7.5173|-7.5173	7.1636|7.1636	0.25677|0.25677	0.0:0.7344:0.1705:0.0952|0.0:0.7344:0.1705:0.0952	.|.	390|.	Q8NA66|.	CNBD1_HUMAN|.	I|K	390|81;26	ENSP00000430073:L390I|.	ENSP00000430073:L390I|.	L|N	+|+	1|3	0|2	CNBD1|CNBD1	88434995|88434995	0.484000|0.484000	0.25964|0.25964	0.804000|0.804000	0.32291|0.32291	0.075000|0.075000	0.17131|0.17131	1.067000|1.067000	0.30616|0.30616	1.102000|1.102000	0.41551|0.41551	-0.300000|-0.300000	0.09419|0.09419	CTT|AAC		0.318	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		19	21	1	0	2.4624e-09	1	2.95225e-09	19	21					A	88365879	C	A	88365879	3	1	48	1	0	0	0	0	1	0	0	0	3593	565	20	5	1206	5	CNBD1	8	88365879	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	116673	88365879	57998143	2165	6633										
TMEM55A	55529	broad.mit.edu	37	chr8	92008023	92008023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaacataggttgctcgaaatCgccttgcaaaatctggggtg	11	8	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:92008023C>T	ENST00000285419.3	-	7	970	c.656G>A	c.(655-657)cGa>cAa	p.R219Q		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	219						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TGCTCGAAATCGCCTTGCAAA	0.373																																						ENST00000285419.3																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(655-657)cGa>cAa		transmembrane protein 55A							80	77	78					8																	92008023		2203	4300	6503	SO:0001583	missense	55529					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr8:92008023C>T	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.656G>A	8.37:g.92008023C>T	ENSP00000285419:p.Arg219Gln		Somatic					p.R219Q	NM_018710.2	NP_061180.1	WXS	Illumina GAIIx	Phase_I	Q8N4L2	TM55A_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.033)		7	970	-			219					B2R9H4|Q68CU2	Missense_Mutation	SNP	ENST00000285419.3	37	c.656G>A	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.658829	0.29515	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.36	4.48	0.54585	.	0.055640	0.64402	D	0.000001	T	0.19366	0.0465	N	0.04508	-0.205	0.53688	D	0.99997	P	0.39601	0.68	B	0.30855	0.121	T	0.08597	-1.0714	9	0.12430	T	0.62	-9.9012	10.5462	0.45062	0.0:0.7938:0.1336:0.0726	.	219	Q8N4L2	TM55A_HUMAN	Q	219;225	.	ENSP00000285419:R219Q	R	-	2	0	TMEM55A	92077199	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.758000	0.55220	1.391000	0.46566	0.650000	0.86243	CGA		0.373	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710		8	47	0	0	0	1	0	8	47					T	92008023	C	T	92008023	3	4	48	1	0	0	0	0	1	0	0	0	16196	884	31	1	121	1	TMEM55A	8	92008023	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3642144	92008023	54355999	2166	6634										
OTUD6B	51633	broad.mit.edu	37	chr8	92082634	92082634	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggaggcggtattgaccgaaGagcttgatgaggaagagcag	17	5	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:92082634G>T	ENST00000285420.4	+	1	211	c.112G>T	c.(112-114)Gag>Tag	p.E38*	OTUD6B_ENST00000404789.3_5'UTR|GS1-251I9.4_ENST00000524003.1_RNA|GS1-251I9.4_ENST00000522817.1_RNA	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	8							cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			ATTGACCGAAGAGCTTGATGA	0.582																																						ENST00000285420.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(112-114)Gag>Tag		OTU domain containing 6B							98	90	93					8																	92082634		2203	4300	6503	SO:0001587	stop_gained	51633							g.chr8:92082634G>T		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"OTU domain containing"	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.112G>T	8.37:g.92082634G>T	ENSP00000285420:p.Glu38*		Somatic				OTUD6B_ENST00000404789.3_5'UTR	p.E38*	NM_016023.3	NP_057107.3	WXS	Illumina GAIIx	Phase_I	Q8N6M0	OTU6B_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0187)		1	211	+			8					A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Nonsense_Mutation	SNP	ENST00000285420.4	37	c.112G>T	CCDS6253.2	.	.	.	.	.	.	.	.	.	.	G	35	5.485718	0.96323	.	.	ENSG00000155100	ENST00000285420	.	.	.	5.65	5.65	0.86999	.	0.143063	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-3.2664	18.891	0.92403	0.0:0.0:1.0:0.0	.	.	.	.	X	38	.	ENSP00000285420:E38X	E	+	1	0	OTUD6B	92151810	1.000000	0.71417	0.396000	0.26296	0.291000	0.27294	5.461000	0.66699	2.941000	0.99782	0.655000	0.94253	GAG		0.582	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		9	14	1	0	0.0477658	1	0.0484551	9	14					T	92082634	G	T	92082634	4	4	48	1	0	0	0	0	0	1	0	0	11326	943	33	2	114	2	OTUD6B	8	92082634	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	74611	92082634	54281388	2167	6635										
OTUD6B	51633	broad.mit.edu	37	chr8	92083511	92083511	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgaagctgactactaaggaGaataaggtatgtgaaataaa	10	3	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:92083511G>T	ENST00000285420.4	+	2	417	c.318G>T	c.(316-318)gaG>gaT	p.E106D	OTUD6B_ENST00000404789.3_5'UTR|GS1-251I9.4_ENST00000524003.1_RNA|GS1-251I9.4_ENST00000522817.1_RNA	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	76							cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			CTACTAAGGAGAATAAGGTAT	0.373																																						ENST00000285420.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(316-318)gaG>gaT		OTU domain containing 6B							126	124	125					8																	92083511		2203	4300	6503	SO:0001583	missense	51633							g.chr8:92083511G>T		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"OTU domain containing"	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.318G>T	8.37:g.92083511G>T	ENSP00000285420:p.Glu106Asp		Somatic				OTUD6B_ENST00000404789.3_5'UTR	p.E106D	NM_016023.3	NP_057107.3	WXS	Illumina GAIIx	Phase_I	Q8N6M0	OTU6B_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0187)		2	417	+			76					A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Missense_Mutation	SNP	ENST00000285420.4	37	c.318G>T	CCDS6253.2	.	.	.	.	.	.	.	.	.	.	G	8.282	0.815800	0.16607	.	.	ENSG00000155100	ENST00000285420	D	0.95821	-3.82	5.39	0.406	0.16366	.	0.817327	0.11573	N	0.550605	D	0.90113	0.6911	L	0.43152	1.355	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.78107	-0.2333	10	0.13853	T	0.58	-5.2744	5.5428	0.17047	0.3005:0.1372:0.5623:0.0	.	76	Q8N6M0	OTU6B_HUMAN	D	106	ENSP00000285420:E106D	ENSP00000285420:E106D	E	+	3	2	OTUD6B	92152687	1.000000	0.71417	0.892000	0.35008	0.851000	0.48451	1.017000	0.29989	-0.000000	0.14550	0.462000	0.41574	GAG		0.373	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		28	56	1	0	1.68575e-08	1	1.99097e-08	28	56					T	92083511	G	T	92083511	3	4	48	1	0	0	0	0	1	0	0	0	11326	933	33	2	324	2	OTUD6B	8	92083511	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	877	92083511	54280511	2168	6636										
OTUD6B	51633	broad.mit.edu	37	chr8	92090712	92090712	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggcagctagacagttagaAattaaacagattccatctga	8	7	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:92090712A>C	ENST00000285420.4	+	4	633	c.534A>C	c.(532-534)gaA>gaC	p.E178D	OTUD6B_ENST00000404789.3_Missense_Mutation_p.E47D	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	148	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.						cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			GACAGTTAGAAATTAAACAGA	0.398																																						ENST00000285420.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(532-534)gaA>gaC		OTU domain containing 6B							67	62	64					8																	92090712		2202	4300	6502	SO:0001583	missense	51633							g.chr8:92090712A>C		CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"OTU domain containing"	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.534A>C	8.37:g.92090712A>C	ENSP00000285420:p.Glu178Asp		Somatic				OTUD6B_ENST00000404789.3_Missense_Mutation_p.E47D	p.E178D	NM_016023.3	NP_057107.3	WXS	Illumina GAIIx	Phase_I	Q8N6M0	OTU6B_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0187)		4	633	+			148			OTU.		A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Missense_Mutation	SNP	ENST00000285420.4	37	c.534A>C	CCDS6253.2	.	.	.	.	.	.	.	.	.	.	A	13.83	2.355174	0.41700	.	.	ENSG00000155100	ENST00000285420;ENST00000404789	T;T	0.43688	0.94;0.94	6.06	1.01	0.19927	Ovarian tumour, otubain (1);	0.047999	0.85682	D	0.000000	T	0.40272	0.1110	M	0.80028	2.48	0.38261	D	0.94187	B;P	0.36789	0.305;0.57	B;B	0.35114	0.119;0.196	T	0.38457	-0.9660	10	0.21014	T	0.42	-21.1526	10.729	0.46085	0.5917:0.0:0.4083:0.0	.	47;148	B4DEY0;Q8N6M0	.;OTU6B_HUMAN	D	178;47	ENSP00000285420:E178D;ENSP00000384190:E47D	ENSP00000285420:E178D	E	+	3	2	OTUD6B	92159888	0.999000	0.42202	0.997000	0.53966	0.943000	0.58893	0.664000	0.25068	0.188000	0.20168	0.528000	0.53228	GAA		0.398	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319968.1	NM_016023		11	14	0	0	0	1	0	11	14					C	92090712	A	C	92090712	3	2	48	1	0	0	0	0	1	0	0	0	11326	11	1	4	548	4	OTUD6B	8	92090712	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	7201	92090712	54273310	2169	6637										
TMEM67	91147	broad.mit.edu	37	chr8	94792860	94792860	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgtcaagctcttggaaatAtgtgtgtgatgaacatgaat	10	5	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:94792860A>G	ENST00000453321.3	+	8	812	c.754A>G	c.(754-756)Atg>Gtg	p.M252V	TMEM67_ENST00000425545.2_3'UTR|TMEM67_ENST00000409623.3_Missense_Mutation_p.M171V	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	252			M -> T (in MKS3 and COACHS). {ECO:0000269|PubMed:19466712, ECO:0000269|PubMed:19508969, ECO:0000269|PubMed:19574260}.		cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TCTTGGAAATATGTGTGTGAT	0.368																																						ENST00000453321.3																			0				breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41						c.(754-756)Atg>Gtg		transmembrane protein 67							260	247	252					8																	94792860		2203	4300	6503	SO:0001583	missense	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94792860A>G	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.754A>G	8.37:g.94792860A>G	ENSP00000389998:p.Met252Val		Somatic				TMEM67_ENST00000425545.2_3'UTR|TMEM67_ENST00000409623.3_Missense_Mutation_p.M171V	p.M252V	NM_153704.5	NP_714915.3	WXS	Illumina GAIIx	Phase_I	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		8	812	+	Breast(36;4.14e-07)		252		M -> T (in MKS3 and COACHS; also in a patient with overlaping clinical features with JBTS6).			B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.754A>G	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	A	16.74	3.206267	0.58343	.	.	ENSG00000164953	ENST00000452276;ENST00000453321;ENST00000409623	D;D;D	0.97328	-4.34;-4.34;-4.34	5.86	5.86	0.93980	.	0.155797	0.64402	D	0.000001	D	0.96380	0.8819	M	0.72894	2.215	0.80722	D	1	B;B	0.20164	0.042;0.009	B;B	0.25614	0.062;0.014	D	0.94371	0.7596	10	0.72032	D	0.01	-4.0852	16.2559	0.82517	1.0:0.0:0.0:0.0	.	252;171	Q5HYA8;G5E9H2	MKS3_HUMAN;.	V	149;252;171	ENSP00000388671:M149V;ENSP00000389998:M252V;ENSP00000386966:M171V	ENSP00000314488:M242V	M	+	1	0	TMEM67	94862036	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.629000	0.90983	2.239000	0.73571	0.528000	0.53228	ATG		0.368	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		41	81	0	0	0	1	0	41	81					G	94792860	A	G	94792860	3	3	48	1	0	0	0	0	1	0	0	0	16211	449	16	4	922	4	TMEM67	8	94792860	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2702148	94792860	51571162	2170	6638										
CDH17	1015	broad.mit.edu	37	chr8	95164299	95164299	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggctcaggattttctgctttGaacacaatgttggaaacagc	10	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:95164299G>T	ENST00000027335.3	-	13	1717	c.1593C>A	c.(1591-1593)ttC>ttA	p.F531L	CDH17_ENST00000441892.2_Missense_Mutation_p.F317L|CDH17_ENST00000450165.2_Missense_Mutation_p.F531L	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	531	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.F531F(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTTCTGCTTTGAACACAATGT	0.398																																						ENST00000027335.3																			1	Substitution - coding silent(1)	p.F531F(1)	skin(1)	NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(1591-1593)ttC>ttA		cadherin 17, LI cadherin (liver-intestine)							94	91	92					8																	95164299		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95164299G>T	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1593C>A	8.37:g.95164299G>T	ENSP00000027335:p.Phe531Leu		Somatic				CDH17_ENST00000441892.2_Missense_Mutation_p.F317L|CDH17_ENST00000450165.2_Missense_Mutation_p.F531L	p.F531L	NM_004063.3	NP_004054.3	WXS	Illumina GAIIx	Phase_I	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		13	1717	-	Breast(36;4.65e-06)		531			Cadherin 5.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.1593C>A	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808026	0.50421	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.34667	1.35;1.35;1.35	5.67	5.67	0.87782	Cadherin (4);Cadherin-like (1);	0.508000	0.18395	N	0.142540	T	0.20251	0.0487	N	0.11673	0.155	0.37150	D	0.902114	B;B	0.23990	0.067;0.095	B;B	0.25405	0.06;0.032	T	0.19484	-1.0304	10	0.19590	T	0.45	-0.9804	11.0654	0.47972	0.0846:0.0:0.9154:0.0	.	317;531	E7EN24;Q12864	.;CAD17_HUMAN	L	531;317;531	ENSP00000027335:F531L;ENSP00000392811:F317L;ENSP00000401468:F531L	ENSP00000027335:F531L	F	-	3	2	CDH17	95233475	0.990000	0.36364	0.947000	0.38551	0.984000	0.73092	1.754000	0.38369	2.836000	0.97738	0.655000	0.94253	TTC		0.398	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		18	31	1	0	1.56452e-12	1	1.97515e-12	18	31					T	95164299	G	T	95164299	3	4	48	1	0	0	0	0	1	0	0	0	3104	1281	45	2	929	2	CDH17	8	95164299	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	371439	95164299	51199723	2171	6639										
KIAA1429	25962	broad.mit.edu	37	chr8	95539304	95539304	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctatcttctctatacaaatCtaagagttctgttaacttca	3	9	6	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:95539304C>A	ENST00000297591.5	-	8	1243	c.1168G>T	c.(1168-1170)Gat>Tat	p.D390Y	KIAA1429_ENST00000437199.1_Missense_Mutation_p.D390Y|KIAA1429_ENST00000421249.2_Missense_Mutation_p.D390Y	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	390					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)			CTATACAAATCTAAGAGTTCT	0.338																																						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.(1168-1170)Gat>Tat		KIAA1429							135	140	138					8																	95539304		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95539304C>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1168G>T	8.37:g.95539304C>A	ENSP00000297591:p.Asp390Tyr		Somatic				KIAA1429_ENST00000421249.2_Missense_Mutation_p.D390Y|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D390Y	p.D390Y	NM_015496.4	NP_056311.2	WXS	Illumina GAIIx	Phase_I	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	1243	-	Breast(36;3.29e-05)		390					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.1168G>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561876	0.27915	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.45668	0.9;0.89;0.89	5.74	4.84	0.62591	.	0.315734	0.33916	N	0.004423	T	0.27134	0.0665	N	0.08118	0	0.37389	D	0.912373	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.13019	-1.0525	10	0.72032	D	0.01	-12.7113	15.8958	0.79333	0.1365:0.8635:0.0:0.0	.	390;390	Q69YN4-4;Q69YN4	.;VIR_HUMAN	Y	390	ENSP00000297591:D390Y;ENSP00000395600:D390Y;ENSP00000398390:D390Y	ENSP00000297591:D390Y	D	-	1	0	KIAA1429	95608480	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	4.649000	0.61433	1.385000	0.46445	0.591000	0.81541	GAT		0.338	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		34	69	1	0	4.65686e-17	1	6.22576e-17	34	69					A	95539304	C	A	95539304	3	1	48	1	0	0	0	0	1	0	0	0	8240	913	32	2	4392	2	KIAA1429	8	95539304	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	375005	95539304	50824718	2172	6640										
DPY19L4	286148	broad.mit.edu	37	chr8	95800138	95800138	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagatctaccaaatctattCaaagcgatctgctgaggata	7	9	5	2	rs547862125		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:95800138C>A	ENST00000414645.2	+	18	1964	c.1865C>A	c.(1864-1866)tCa>tAa	p.S622*		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	622						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					CAAATCTATTCAAAGCGATCT	0.279													C|||	1	0.000199681	0	0	5008	,	,		8316	0		0.001	False		,,,				2504	0					ENST00000414645.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21						c.(1864-1866)tCa>tAa		dpy-19-like 4 (C. elegans)							36	38	37					8																	95800138		2198	4298	6496	SO:0001587	stop_gained	286148					integral to membrane		g.chr8:95800138C>A		CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.1865C>A	8.37:g.95800138C>A	ENSP00000389630:p.Ser622*		Somatic					p.S622*	NM_181787.2	NP_861452.2	WXS	Illumina GAIIx	Phase_I	Q7Z388	D19L4_HUMAN			18	1964	+	Breast(36;3.85e-06)		622					Q6ZW32|Q6ZW42|Q7Z329	Nonsense_Mutation	SNP	ENST00000414645.2	37	c.1865C>A	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	C	38	6.640052	0.97726	.	.	ENSG00000156162	ENST00000414645	.	.	.	4.92	4.02	0.46733	.	0.401786	0.25400	N	0.030945	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0966	10.5618	0.45150	0.1501:0.7054:0.1445:0.0	.	.	.	.	X	622	.	ENSP00000389630:S622X	S	+	2	0	DPY19L4	95869314	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.223000	0.58587	1.160000	0.42584	0.585000	0.79938	TCA		0.279	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787		8	27	1	0	1.76689e-08	1	2.08373e-08	8	27					A	95800138	C	A	95800138	4	1	48	1	0	0	0	0	0	1	0	0	4745	838	29	2	1935	2	DPY19L4	8	95800138	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	260834	95800138	50563884	2173	6641										
INTS8	55656	broad.mit.edu	37	chr8	95837290	95837290	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgggacttagacatattagaGaaaaggtatccaagatttca	9	5	1	3	rs141032302	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:95837290G>T	ENST00000523731.1	+	2	433	c.300G>T	c.(298-300)gaG>gaT	p.E100D	INTS8_ENST00000447247.1_Missense_Mutation_p.E100D	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	100					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ACATATTAGAGAAAAGGTATC	0.318																																						ENST00000523731.1																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28						c.(298-300)gaG>gaT		integrator complex subunit 8							65	68	67					8																	95837290		2203	4299	6502	SO:0001583	missense	55656				snRNA processing	integrator complex	protein binding	g.chr8:95837290G>T	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.300G>T	8.37:g.95837290G>T	ENSP00000430338:p.Glu100Asp		Somatic				INTS8_ENST00000447247.1_Missense_Mutation_p.E100D	p.E100D	NM_017864.2	NP_060334.2	WXS	Illumina GAIIx	Phase_I	Q75QN2	INT8_HUMAN			2	433	+	Breast(36;1.05e-06)		100					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	c.300G>T	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.44|17.44	3.390710|3.390710	0.62066|0.62066	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000522171;ENST00000523808;ENST00000519457;ENST00000523731;ENST00000447247|ENST00000521860	.|.	.|.	.|.	4.96|4.96	2.21|2.21	0.28008|0.28008	.|.	0.049280|0.049280	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.60612|.	0.2282|.	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999999|0.999999	D;B|.	0.71674|.	0.998;0.189|.	D;B|.	0.63877|.	0.919;0.131|.	T|.	0.60229|.	-0.7304|.	9|.	0.66056|0.72032	D|D	0.02|0.01	-12.0668|-12.0668	9.8989|9.8989	0.41335|0.41335	0.2868:0.0:0.7132:0.0|0.2868:0.0:0.7132:0.0	.|.	100;100|.	Q75QN2;Q75QN2-2|.	INT8_HUMAN;.|.	D|X	59;164;100;100;100|88	.|.	ENSP00000343274:E100D|ENSP00000430049:E88X	E|E	+|+	3|1	2|0	INTS8|INTS8	95906466|95906466	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	2.409000|2.409000	0.44583|0.44583	0.286000|0.286000	0.22352|0.22352	-0.251000|-0.251000	0.11542|0.11542	GAG|GAA		0.318	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		13	30	1	0	0.000151284	1	0.00016287	13	30					T	95837290	G	T	95837290	3	4	48	1	0	0	0	0	1	0	0	0	7793	933	33	2	306	2	INTS8	8	95837290	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	37152	95837290	50526732	2174	6642										
INTS8	55656	broad.mit.edu	37	chr8	95884164	95884164	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcacagtgaaagagctagttCgatatacactcagtataaat	7	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:95884164C>T	ENST00000523731.1	+	21	2600	c.2467C>T	c.(2467-2469)Cga>Tga	p.R823*	INTS8_ENST00000447247.1_Nonsense_Mutation_p.R823*	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	823					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AGAGCTAGTTCGATATACACT	0.348																																						ENST00000523731.1																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28						c.(2467-2469)Cga>Tga		integrator complex subunit 8							118	110	112					8																	95884164		2203	4300	6503	SO:0001587	stop_gained	55656				snRNA processing	integrator complex	protein binding	g.chr8:95884164C>T	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2467C>T	8.37:g.95884164C>T	ENSP00000430338:p.Arg823*		Somatic				INTS8_ENST00000447247.1_Nonsense_Mutation_p.R823*	p.R823*	NM_017864.2	NP_060334.2	WXS	Illumina GAIIx	Phase_I	Q75QN2	INT8_HUMAN			21	2600	+	Breast(36;1.05e-06)		823					B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Nonsense_Mutation	SNP	ENST00000523731.1	37	c.2467C>T	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	C	36	5.628828	0.96671	.	.	ENSG00000164941	ENST00000523731;ENST00000447247	.	.	.	5.57	5.57	0.84162	.	0.262270	0.41396	D	0.000882	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-16.9947	12.961	0.58458	0.2661:0.7339:0.0:0.0	.	.	.	.	X	823	.	ENSP00000398203:R823X	R	+	1	2	INTS8	95953340	1.000000	0.71417	0.971000	0.41717	0.960000	0.62799	4.854000	0.62918	2.785000	0.95823	0.591000	0.81541	CGA		0.348	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864		16	30	0	0	0	1	0	16	30					T	95884164	C	T	95884164	4	4	48	1	0	0	0	0	0	1	0	0	7793	876	31	1	2549	1	INTS8	8	95884164	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	46874	95884164	50479858	2175	6643										
PGCP	10404	broad.mit.edu	37	chr8	97978234	97978234	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atggatgatggcggtggagcCtttatatcatgggaagcact	14	6	1	1	rs376395954		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:97978234C>A	ENST00000220763.5	+	5	1131	c.921C>A	c.(919-921)gcC>gcA	p.A307A		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	307					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)										GCGGTGGAGCCTTTATATCAT	0.383																																						ENST00000220763.5																			0											c.(919-921)gcC>gcA		carboxypeptidase Q							98	97	98					8																	97978234		2203	4300	6503	SO:0001819	synonymous_variant	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97978234C>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.921C>A	8.37:g.97978234C>A			Somatic					p.A307A	NM_016134.2	NP_057218.1	WXS	Illumina GAIIx	Phase_I	Q9Y646	PGCP_HUMAN			5	1131	+			307					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Silent	SNP	ENST00000220763.5	37	c.921C>A	CCDS6273.1																																																																																				0.383	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		7	16	1	0	0.00198382	1	0.00207034	7	16					A	97978234	C	A	97978234	2	1	48	1	0	0	0	0	0	0	0	1	11795	668	24	5		5	PGCP	8	97978234	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2094070	97978234	48385788	2176	6644										
TSPYL5	85453	broad.mit.edu	37	chr8	98288981	98288981	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgttgattatctccacaatCttgtcagactcaatggagct	7	10	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:98288981C>A	ENST00000322128.3	-	1	1195	c.1092G>T	c.(1090-1092)aaG>aaT	p.K364N		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	364					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TCTCCACAATCTTGTCAGACT	0.468																																						ENST00000322128.3																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(1090-1092)aaG>aaT		TSPY-like 5							156	165	162					8																	98288981		2203	4300	6503	SO:0001583	missense	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98288981C>A	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.1092G>T	8.37:g.98288981C>A	ENSP00000322802:p.Lys364Asn		Somatic					p.K364N	NM_033512.2	NP_277047.2	WXS	Illumina GAIIx	Phase_I	Q86VY4	TSYL5_HUMAN			1	1195	-	Breast(36;2.56e-06)		364					B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	c.1092G>T	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.232918	0.58777	.	.	ENSG00000180543	ENST00000322128	T	0.29397	1.57	4.3	3.35	0.38373	.	0.000000	0.34460	N	0.003958	T	0.37892	0.1020	L	0.46157	1.445	0.33855	D	0.63311	D	0.57571	0.98	P	0.58577	0.841	T	0.52711	-0.8539	10	0.72032	D	0.01	-26.6221	6.1457	0.20285	0.0:0.8419:0.0:0.1581	.	364	Q86VY4	TSYL5_HUMAN	N	364	ENSP00000322802:K364N	ENSP00000322802:K364N	K	-	3	2	TSPYL5	98358157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.786000	0.26844	1.266000	0.44231	0.563000	0.77884	AAG		0.468	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		60	118	1	0	1.16596e-39	1	1.68366e-39	60	118					A	98288981	C	A	98288981	3	1	48	1	0	0	0	0	1	0	0	0	16677	912	32	2	165	2	TSPYL5	8	98288981	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	310747	98288981	48075041	2177	6645										
TSPYL5	85453	broad.mit.edu	37	chr8	98289208	98289208	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgattttgtagcccaatcTggcaaggccgagctcttcca	9	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:98289208T>G	ENST00000322128.3	-	1	968	c.865A>C	c.(865-867)Aga>Cga	p.R289R		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	289					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TAGCCCAATCTGGCAAGGCCG	0.468																																						ENST00000322128.3																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(865-867)Aga>Cga		TSPY-like 5							79	84	82					8																	98289208		2203	4300	6503	SO:0001819	synonymous_variant	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98289208T>G	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.865A>C	8.37:g.98289208T>G			Somatic					p.R289R	NM_033512.2	NP_277047.2	WXS	Illumina GAIIx	Phase_I	Q86VY4	TSYL5_HUMAN			1	968	-	Breast(36;2.56e-06)		289					B3KRF0|Q9C0B3	Silent	SNP	ENST00000322128.3	37	c.865A>C	CCDS34927.1																																																																																				0.468	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		10	57	0	0	0	1	0	10	57					G	98289208	T	G	98289208	2	3	48	1	0	0	0	0	0	0	0	1	16677	1588	55	4		4	TSPYL5	8	98289208	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	227	98289208	48074814	2178	6646										
POP1	10940	broad.mit.edu	37	chr8	99139912	99139912	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaatgagcagtcttcctccAaagggatgtttagaaaaaag	10	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:99139912A>G	ENST00000401707.2	+	3	313	c.232A>G	c.(232-234)Aaa>Gaa	p.K78E	POP1_ENST00000349693.3_Missense_Mutation_p.K78E	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)	78					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)			GTCTTCCTCCAAAGGGATGTT	0.498																																						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.(232-234)Aaa>Gaa		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)							117	111	113					8																	99139912		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.chr8:99139912A>G	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.232A>G	8.37:g.99139912A>G	ENSP00000385787:p.Lys78Glu		Somatic				POP1_ENST00000349693.3_Missense_Mutation_p.K78E	p.K78E	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)		3	313	+	Breast(36;1.78e-06)		78					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.232A>G	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692430	0.30052	.	.	ENSG00000104356	ENST00000522319;ENST00000401707;ENST00000349693	T;T;T	0.46819	0.86;1.21;1.21	6.08	4.93	0.64822	.	0.776490	0.12284	N	0.482575	T	0.31670	0.0804	L	0.27053	0.805	0.09310	N	1	B	0.25441	0.126	B	0.24701	0.055	T	0.27839	-1.0062	10	0.12103	T	0.63	-3.0564	7.6414	0.28296	0.8378:0.0:0.1622:0.0	.	78	Q99575	POP1_HUMAN	E	78	ENSP00000428945:K78E;ENSP00000385787:K78E;ENSP00000339529:K78E	ENSP00000339529:K78E	K	+	1	0	POP1	99209088	0.973000	0.33851	0.596000	0.28811	0.855000	0.48748	3.040000	0.49799	1.129000	0.42072	0.482000	0.46254	AAA		0.498	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		28	51	0	0	0	1	0	28	51					G	99139912	A	G	99139912	3	3	48	1	0	0	0	0	1	0	0	0	12260	131	5	4	238	4	POP1	8	99139912	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	850704	99139912	47224110	2179	6647										
POP1	10940	broad.mit.edu	37	chr8	99142362	99142362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acgccaagcggtttcatatgGtcaagaagtggggctactgc	13	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:99142362G>A	ENST00000401707.2	+	5	724	c.643G>A	c.(643-645)Gtc>Atc	p.V215I	POP1_ENST00000349693.3_Missense_Mutation_p.V215I	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)	215					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)			GTTTCATATGGTCAAGAAGTG	0.512																																						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.(643-645)Gtc>Atc		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)							78	76	77					8																	99142362		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.chr8:99142362G>A	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.643G>A	8.37:g.99142362G>A	ENSP00000385787:p.Val215Ile		Somatic				POP1_ENST00000349693.3_Missense_Mutation_p.V215I	p.V215I	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)		5	724	+	Breast(36;1.78e-06)		215					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.643G>A	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108026	0.56291	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.41400	1.0;1.0	5.81	4.04	0.47022	Ribonuclease P/MRP, subunit POP1 (1);	0.346744	0.25981	N	0.027073	T	0.23171	0.0560	N	0.11789	0.175	0.44918	D	0.997939	B	0.06786	0.001	B	0.15484	0.013	T	0.04481	-1.0948	9	.	.	.	-13.0371	10.3941	0.44190	0.1507:0.0:0.8493:0.0	.	215	Q99575	POP1_HUMAN	I	215	ENSP00000385787:V215I;ENSP00000339529:V215I	.	V	+	1	0	POP1	99211538	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.792000	0.55476	0.816000	0.34421	0.591000	0.81541	GTC		0.512	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		31	56	0	0	0	1	0	31	56					A	99142362	G	A	99142362	3	1	48	1	0	0	0	0	1	0	0	0	12260	1261	44	3	657	3	POP1	8	99142362	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2450	99142362	47221660	2180	6648										
KCNS2	3788	broad.mit.edu	37	chr8	99440676	99440676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agatccttgccttctacaacGacgcctccaagttcgatggg	9	13	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:99440676G>T	ENST00000287042.4	+	2	819	c.469G>T	c.(469-471)Gac>Tac	p.D157Y	KCNS2_ENST00000521839.1_Missense_Mutation_p.D157Y	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	157					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTTCTACAACGACGCCTCCAA	0.612																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(469-471)Gac>Tac		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							71	77	75					8																	99440676		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440676G>T	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.469G>T	8.37:g.99440676G>T	ENSP00000287042:p.Asp157Tyr		Somatic				KCNS2_ENST00000521839.1_Missense_Mutation_p.D157Y	p.D157Y	NM_020697.2	NP_065748.1	WXS	Illumina GAIIx	Phase_I	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	819	+	Breast(36;2.4e-06)		157					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.469G>T	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030385	0.75504	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.96802	-4.13;-4.13	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	D	0.97660	0.9233	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	D	0.98150	1.0441	10	0.62326	D	0.03	.	19.1973	0.93695	0.0:0.0:1.0:0.0	.	157	Q9ULS6	KCNS2_HUMAN	Y	157	ENSP00000287042:D157Y;ENSP00000430712:D157Y	ENSP00000287042:D157Y	D	+	1	0	KCNS2	99509852	1.000000	0.71417	0.991000	0.47740	0.954000	0.61252	9.869000	0.99810	2.527000	0.85204	0.563000	0.77884	GAC		0.612	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		31	34	1	0	2.49675e-24	1	3.5028e-24	31	34					T	99440676	G	T	99440676	3	4	48	1	0	0	0	0	1	0	0	0	8098	1058	37	2	471	2	KCNS2	8	99440676	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	298314	99440676	46923346	2181	6649										
VPS13B	157680	broad.mit.edu	37	chr8	100523395	100523395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctctctctgacatacacaAaagctgtaacaaaaaatgtc	4	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:100523395A>G	ENST00000358544.2	+	29	4474	c.4363A>G	c.(4363-4365)Aaa>Gaa	p.K1455E	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.K1430E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1455					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)			GACATACACAAAAGCTGTAAC	0.378																																					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.(4363-4365)Aaa>Gaa		vacuolar protein sorting 13 homolog B (yeast)							104	106	106					8																	100523395		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100523395A>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.4363A>G	8.37:g.100523395A>G	ENSP00000351346:p.Lys1455Glu		Somatic				VPS13B_ENST00000357162.2_Missense_Mutation_p.K1430E|VPS13B_ENST00000395996.1_3'UTR	p.K1455E	NM_017890.4	NP_060360.3	WXS	Illumina GAIIx	Phase_I	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		29	4474	+	Breast(36;3.73e-07)		1455					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4363A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.393202	0.83011	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.48201	0.82;0.82	5.36	5.36	0.76844	.	0.055184	0.64402	D	0.000001	T	0.51839	0.1698	L	0.36672	1.1	0.80722	D	1	P;D;P	0.54601	0.954;0.967;0.702	P;P;B	0.53035	0.651;0.716;0.217	T	0.55341	-0.8156	10	0.66056	D	0.02	.	15.6332	0.76929	1.0:0.0:0.0:0.0	.	1454;1430;1455	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8	.;.;VP13B_HUMAN	E	1430;1455	ENSP00000349685:K1430E;ENSP00000351346:K1455E	ENSP00000349685:K1430E	K	+	1	0	VPS13B	100592571	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.647000	0.74354	2.155000	0.67459	0.477000	0.44152	AAA		0.378	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		22	42	0	0	0	1	0	22	42					G	100523395	A	G	100523395	3	3	48	1	0	0	0	0	1	0	0	0	17205	15	1	4	4667	4	VPS13B	8	100523395	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1082719	100523395	45840627	2182	6650										
VPS13B	157680	broad.mit.edu	37	chr8	100568703	100568703	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttgaacttaggaattcttCgagatcctggatcagaaatc	8	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:100568703C>T	ENST00000358544.2	+	31	4957	c.4846C>T	c.(4846-4848)Cga>Tga	p.R1616*	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.R1591*	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1616					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)			AGGAATTCTTCGAGATCCTGG	0.358																																					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.(4846-4848)Cga>Tga		vacuolar protein sorting 13 homolog B (yeast)							57	54	55					8																	100568703		2203	4300	6503	SO:0001587	stop_gained	157680				protein transport			g.chr8:100568703C>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.4846C>T	8.37:g.100568703C>T	ENSP00000351346:p.Arg1616*		Somatic				VPS13B_ENST00000357162.2_Nonsense_Mutation_p.R1591*|VPS13B_ENST00000395996.1_3'UTR	p.R1616*	NM_017890.4	NP_060360.3	WXS	Illumina GAIIx	Phase_I	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		31	4957	+	Breast(36;3.73e-07)		1616					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Nonsense_Mutation	SNP	ENST00000358544.2	37	c.4846C>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	45	11.925339	0.99618	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	.	.	.	5.73	3.92	0.45320	.	0.083876	0.48767	D	0.000166	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0182	0.64536	0.3977:0.6023:0.0:0.0	.	.	.	.	X	1591;1616	.	ENSP00000349685:R1591X	R	+	1	2	VPS13B	100637879	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.026000	0.49689	0.770000	0.33336	-0.127000	0.14921	CGA		0.358	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		15	15	0	0	0	1	0	15	15					T	100568703	C	T	100568703	4	4	48	1	0	0	0	0	0	1	0	0	17205	876	31	1	5158	1	VPS13B	8	100568703	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	45308	100568703	45795319	2183	6651										
VPS13B	157680	broad.mit.edu	37	chr8	100568745	100568745	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagacagacaataccaaataGatctgcagtccatcaatatt	5	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:100568745G>T	ENST00000358544.2	+	31	4999	c.4888G>T	c.(4888-4890)Gat>Tat	p.D1630Y	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.D1605Y	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1630					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)			ATACCAAATAGATCTGCAGTC	0.408																																					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.(4888-4890)Gat>Tat		vacuolar protein sorting 13 homolog B (yeast)							81	74	77					8																	100568745		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100568745G>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.4888G>T	8.37:g.100568745G>T	ENSP00000351346:p.Asp1630Tyr		Somatic				VPS13B_ENST00000357162.2_Missense_Mutation_p.D1605Y|VPS13B_ENST00000395996.1_3'UTR	p.D1630Y	NM_017890.4	NP_060360.3	WXS	Illumina GAIIx	Phase_I	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		31	4999	+	Breast(36;3.73e-07)		1630					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4888G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842681	0.91197	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70399	-0.48;-0.46	5.73	5.73	0.89815	.	0.111812	0.56097	D	0.000026	D	0.83926	0.5360	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.83952	0.0317	10	0.59425	D	0.04	.	19.8897	0.96925	0.0:0.0:1.0:0.0	.	1605;1630	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	Y	1605;1630	ENSP00000349685:D1605Y;ENSP00000351346:D1630Y	ENSP00000349685:D1605Y	D	+	1	0	VPS13B	100637921	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.547000	0.98100	2.709000	0.92574	0.650000	0.86243	GAT		0.408	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		14	22	1	0	1.3612e-06	1	1.53357e-06	14	22					T	100568745	G	T	100568745	3	4	48	1	0	0	0	0	1	0	0	0	17205	942	33	2	5200	2	VPS13B	8	100568745	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	42	100568745	45795277	2184	6652										
VPS13B	157680	broad.mit.edu	37	chr8	100779084	100779084	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taatctgtctgaaagcaaagTttgtgaactgcagttgccgg	11	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:100779084T>G	ENST00000358544.2	+	40	7319	c.7208T>G	c.(7207-7209)gTt>gGt	p.V2403G	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.V2378G	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2403					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)			GAAAGCAAAGTTTGTGAACTG	0.358																																					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.(7207-7209)gTt>gGt		vacuolar protein sorting 13 homolog B (yeast)							72	73	72					8																	100779084		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100779084T>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.7208T>G	8.37:g.100779084T>G	ENSP00000351346:p.Val2403Gly		Somatic				VPS13B_ENST00000357162.2_Missense_Mutation_p.V2378G|VPS13B_ENST00000395996.1_3'UTR	p.V2403G	NM_017890.4	NP_060360.3	WXS	Illumina GAIIx	Phase_I	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		40	7319	+	Breast(36;3.73e-07)		2403					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.7208T>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.127455	0.37533	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69306	-0.39;-0.39	5.95	4.77	0.60923	.	0.377633	0.25674	N	0.029055	T	0.48732	0.1516	L	0.40543	1.245	0.80722	D	1	P;P	0.38078	0.617;0.483	B;B	0.31101	0.124;0.058	T	0.39502	-0.9611	10	0.20046	T	0.44	.	6.9339	0.24457	0.1336:0.0691:0.0:0.7973	.	2378;2403	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	G	2378;2403	ENSP00000349685:V2378G;ENSP00000351346:V2403G	ENSP00000349685:V2378G	V	+	2	0	VPS13B	100848260	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	2.186000	0.42593	1.037000	0.40024	0.528000	0.53228	GTT		0.358	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		16	29	0	0	0	1	0	16	29					G	100779084	T	G	100779084	3	3	48	1	0	0	0	0	1	0	0	0	17205	1725	60	4	7556	4	VPS13B	8	100779084	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	210339	100779084	45584938	2185	6653										
RGS22	26166	broad.mit.edu	37	chr8	101084433	101084433	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtctttcttttttgatccacTtaataccttcttcacgactg	4	11	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:101084433T>G	ENST00000360863.6	-	5	559	c.365A>C	c.(364-366)aAg>aCg	p.K122T	RGS22_ENST00000523287.1_Intron|RGS22_ENST00000523437.1_Missense_Mutation_p.K122T	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	122					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTTGATCCACTTAATACCTTC	0.318																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(364-366)aAg>aCg		regulator of G-protein signaling 22							103	94	97					8																	101084433		1811	4081	5892	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101084433T>G	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.365A>C	8.37:g.101084433T>G	ENSP00000354109:p.Lys122Thr		Somatic				RGS22_ENST00000523437.1_Missense_Mutation_p.K122T|RGS22_ENST00000523287.1_Intron	p.K122T	NM_015668.3	NP_056483.3	WXS	Illumina GAIIx	Phase_I	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		5	559	-			122					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.365A>C	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.769999	0.31320	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523437;ENST00000520117;ENST00000519092;ENST00000519408	T;T	0.63417	-0.04;-0.04	5.51	4.21	0.49690	.	0.918670	0.09140	N	0.843106	T	0.46014	0.1371	N	0.14661	0.345	0.09310	N	1	B;B	0.28128	0.201;0.201	B;B	0.24701	0.055;0.039	T	0.35475	-0.9787	10	0.56958	D	0.05	.	10.3272	0.43801	0.0:0.1101:0.0:0.8899	.	122;122	A8K944;Q8NE09	.;RGS22_HUMAN	T	122;122;122;41;26;26	ENSP00000354109:K122T;ENSP00000428212:K122T	ENSP00000354109:K122T	K	-	2	0	RGS22	101153609	0.985000	0.35326	0.345000	0.25642	0.993000	0.82548	3.661000	0.54503	2.226000	0.72624	0.482000	0.46254	AAG		0.318	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		7	39	0	0	0	1	0	7	39					G	101084433	T	G	101084433	3	3	48	1	0	0	0	0	1	0	0	0	13320	1609	56	4	3521	4	RGS22	8	101084433	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	305349	101084433	45279589	2186	6654										
RGS22	26166	broad.mit.edu	37	chr8	101117607	101117607	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaaatgatacttacaaattCttcttctgtaatagttggtg	7	5	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:101117607C>A	ENST00000360863.6	-	2	243	c.49G>T	c.(49-51)Gaa>Taa	p.E17*	RGS22_ENST00000523287.1_5'UTR|RGS22_ENST00000523437.1_Nonsense_Mutation_p.E17*	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	17					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.E17*(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTACAAATTCTTCTTCTGTA	0.328																																						ENST00000360863.6																		RGS22/SYCP1(2)	2	Substitution - Nonsense(2)	p.E17*(2)	large_intestine(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(49-51)Gaa>Taa		regulator of G-protein signaling 22							94	98	97					8																	101117607		1823	4076	5899	SO:0001587	stop_gained	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101117607C>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.49G>T	8.37:g.101117607C>A	ENSP00000354109:p.Glu17*		Somatic				RGS22_ENST00000523437.1_Nonsense_Mutation_p.E17*|RGS22_ENST00000523287.1_5'UTR	p.E17*	NM_015668.3	NP_056483.3	WXS	Illumina GAIIx	Phase_I	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		2	243	-			17					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Nonsense_Mutation	SNP	ENST00000360863.6	37	c.49G>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	c	33	5.194701	0.94960	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523437	.	.	.	4.96	4.05	0.47172	.	1.402410	0.04637	N	0.404745	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	7.8233	0.29300	0.0:0.8791:0.0:0.1209	.	.	.	.	X	17	.	ENSP00000354109:E17X	E	-	1	0	RGS22	101186783	0.594000	0.26849	0.817000	0.32601	0.974000	0.67602	2.115000	0.41921	1.212000	0.43366	0.651000	0.88453	GAA		0.328	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		19	26	1	0	1.15919e-05	1	1.28007e-05	19	26					A	101117607	C	A	101117607	4	1	48	1	0	0	0	0	0	1	0	0	13320	922	32	2	3849	2	RGS22	8	101117607	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	33174	101117607	45246415	2187	6655										
UBR5	51366	broad.mit.edu	37	chr8	103298680	103298680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcattgaacggggagcttggGcagcaccattggcatgggag	17	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:103298680G>A	ENST00000520539.1	-	38	5729	c.5123C>T	c.(5122-5124)gCc>gTc	p.A1708V	UBR5_ENST00000521922.1_Missense_Mutation_p.A1702V|UBR5_ENST00000220959.4_Missense_Mutation_p.A1708V|UBR5_ENST00000519528.1_5'Flank	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1708					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)			GGGAGCTTGGGCAGCACCATT	0.522																																					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.(5122-5124)gCc>gTc		ubiquitin protein ligase E3 component n-recognin 5							162	141	148					8																	103298680		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.chr8:103298680G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5123C>T	8.37:g.103298680G>A	ENSP00000429084:p.Ala1708Val		Somatic				UBR5_ENST00000521922.1_Missense_Mutation_p.A1702V|UBR5_ENST00000220959.4_Missense_Mutation_p.A1708V	p.A1708V	NM_015902.5	NP_056986.2	WXS	Illumina GAIIx	Phase_I	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		38	5729	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1708					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5123C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063680	0.76187	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.45276	0.9;0.9;0.9	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.55194	0.1905	L	0.29908	0.895	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	T	0.53844	-0.8381	10	0.54805	T	0.06	.	20.1754	0.98177	0.0:0.0:1.0:0.0	.	1702;1708	E7EMW7;O95071	.;UBR5_HUMAN	V	1708;1708;1702	ENSP00000429084:A1708V;ENSP00000220959:A1708V;ENSP00000427819:A1702V	ENSP00000220959:A1708V	A	-	2	0	UBR5	103367856	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.774000	0.95407	0.655000	0.94253	GCC		0.522	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		31	35	0	0	0	1	0	31	35					A	103298680	G	A	103298680	3	1	48	1	0	0	0	0	1	0	0	0	16920	1203	42	3	3364	3	UBR5	8	103298680	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2181073	103298680	43065342	2188	6656										
ODF1	4956	broad.mit.edu	37	chr8	103572979	103572979	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccttgctacccttgcacttCtccttgcagcccctgcagcc	6	19	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:103572979C>T	ENST00000285402.3	+	2	776	c.620C>T	c.(619-621)tCt>tTt	p.S207F	ODF1_ENST00000518835.1_Intron	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	207					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)			CCTTGCACTTCTCCTtgcagc	0.587																																						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.(619-621)tCt>tTt		outer dense fiber of sperm tails 1							92	71	78					8																	103572979		2203	4300	6503	SO:0001583	missense	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103572979C>T	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"Heat shock proteins / HSPB"	8113	protein-coding gene	gene with protein product	"cancer/testis antigen 133"	182878	"outer dense fibre of sperm tails 1"			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.620C>T	8.37:g.103572979C>T	ENSP00000285402:p.Ser207Phe		Somatic				ODF1_ENST00000518835.1_Intron	p.S207F	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)		2	776	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		207					Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	c.620C>T	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954564	0.34471	.	.	ENSG00000155087	ENST00000285402	D	0.87103	-2.21	5.16	4.28	0.50868	.	0.381500	0.22995	N	0.053150	T	0.78648	0.4316	L	0.29908	0.895	0.58432	D	0.999999	B	0.21452	0.056	B	0.14023	0.01	T	0.76626	-0.2890	10	0.87932	D	0	-7.8027	8.6367	0.33953	0.0:0.8978:0.0:0.1022	.	207	Q14990	ODFP1_HUMAN	F	207	ENSP00000285402:S207F	ENSP00000285402:S207F	S	+	2	0	ODF1	103642155	0.489000	0.26004	0.851000	0.33527	0.628000	0.37860	2.143000	0.42187	2.425000	0.82216	0.555000	0.69702	TCT		0.587	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			25	33	0	0	0	1	0	25	33					T	103572979	C	T	103572979	3	4	48	1	0	0	0	0	1	0	0	0	10835	913	32	3	626	3	ODF1	8	103572979	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	274299	103572979	42791043	2189	6657										
ATP6V1C1	528	broad.mit.edu	37	chr8	104065041	104065041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaatcttcagaatttggaacGaaagaatgcgtaagcagatc	9	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:104065041G>A	ENST00000395862.3	+	6	623	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.R155Q|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.R80Q|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.R80Q	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	155					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)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AATTTGGAACGAAAGAATGCG	0.368																																						ENST00000395862.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13						c.(463-465)cGa>cAa		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1							83	86	85					8																	104065041		2203	4299	6502	SO:0001583	missense	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104065041G>A	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"ATPases / V-type"	856	protein-coding gene	gene with protein product		603097	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.464G>A	8.37:g.104065041G>A	ENSP00000379203:p.Arg155Gln		Somatic				ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.R155Q|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.R80Q|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.R80Q	p.R155Q	NM_001695.4	NP_001686.1	WXS	Illumina GAIIx	Phase_I	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		6	623	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		155						Missense_Mutation	SNP	ENST00000395862.3	37	c.464G>A	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	G	35	5.573641	0.96553	.	.	ENSG00000155097	ENST00000518857;ENST00000395862;ENST00000521514;ENST00000518738	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.87	5.87	0.94306	.	0.095626	0.64402	D	0.000001	T	0.74928	0.3781	H	0.94964	3.605	0.80722	D	1	D	0.54397	0.966	P	0.49953	0.627	T	0.82382	-0.0485	10	0.72032	D	0.01	.	20.2857	0.98533	0.0:0.0:1.0:0.0	.	155	P21283	VATC1_HUMAN	Q	80;155;80;155	ENSP00000428204:R80Q;ENSP00000379203:R155Q;ENSP00000430129:R80Q;ENSP00000430282:R155Q	ENSP00000379203:R155Q	R	+	2	0	ATP6V1C1	104134217	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.359000	0.97115	2.804000	0.96469	0.650000	0.86243	CGA		0.368	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695		17	33	0	0	0	1	0	17	33					A	104065041	G	A	104065041	3	1	48	1	0	0	0	0	1	0	0	0	1180	1058	37	1	482	1	ATP6V1C1	8	104065041	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	492062	104065041	42298981	2190	6658										
RIMS2	9699	broad.mit.edu	37	chr8	104924348	104924348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgcattttattaaataagcGtctaaaagatggaagtgtac	8	5	1	1	rs375138135		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:104924348G>A	ENST00000436393.2	+	4	1335	c.1094G>A	c.(1093-1095)cGt>cAt	p.R365H	RIMS2_ENST00000262231.10_Missense_Mutation_p.R442H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R587H|RIMS2_ENST00000507740.1_Missense_Mutation_p.R395H			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	665					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.R395H(1)|p.R670H(1)|p.R365H(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAAATAAGCGTCTAAAAGAT	0.353										HNSCC(12;0.0054)																												ENST00000507740.1																			3	Substitution - Missense(3)	p.R395H(1)|p.R670H(1)|p.R365H(1)	large_intestine(3)	NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(1183-1185)cGt>cAt		regulating synaptic membrane exocytosis 2		G	HIS/ARG,HIS/ARG	1,3687		0,1,1843	119	116	117		1760,1184	5.9	1	8		117	1,8175		0,1,4087	no	missense,missense	RIMS2	NM_001100117.2,NM_014677.4	29,29	0,2,5930	AA,AG,GG		0.0122,0.0271,0.0169	probably-damaging,probably-damaging	587/1350,395/1164	104924348	2,11862	1844	4088	5932	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104924348G>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.1094G>A	8.37:g.104924348G>A	ENSP00000390665:p.Arg365His	HNSCC(12;0.0054)	Somatic				RIMS2_ENST00000436393.2_Missense_Mutation_p.R365H|RIMS2_ENST00000262231.10_Missense_Mutation_p.R442H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R587H	p.R395H	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)		4	1420	+			665					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.1184G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.445035	0.96187	2.71E-4	1.22E-4	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.21031	2.03;2.52;2.15;2.22;2.2;2.14;2.53	5.92	5.92	0.95590	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.44644	0.1303	L	0.49778	1.585	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.997;0.999;0.998;1.0	D;D;D;D;D	0.81914	0.977;0.977;0.992;0.98;0.995	T	0.14254	-1.0479	9	0.66056	D	0.02	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	665;365;442;395;587	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	H	587;618;587;665;395;442;395;395;365	ENSP00000427018:R587H;ENSP00000384892:R587H;ENSP00000425205:R395H;ENSP00000262231:R442H;ENSP00000423559:R395H;ENSP00000386228:R395H;ENSP00000390665:R365H	ENSP00000262231:R442H	R	+	2	0	RIMS2	104993524	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	7.833000	0.86765	2.822000	0.97130	0.650000	0.86243	CGT		0.353	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		21	52	0	0	0	1	0	21	52					A	104924348	G	A	104924348	3	1	48	1	0	0	0	0	1	0	0	0	13383	1145	40	1	1908	1	RIMS2	8	104924348	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	859307	104924348	41439674	2191	6659										
LRP12	29967	broad.mit.edu	37	chr8	105509413	105509413	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacgattgtttttacaatggAaatttcctggttggcaaaaa	8	5	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:105509413A>G	ENST00000276654.5	-	5	1475	c.1367T>C	c.(1366-1368)tTc>tCc	p.F456S	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.F437S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	456	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)			TTTACAATGGAAATTTCCTGG	0.413																																						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.(1366-1368)tTc>tCc		low density lipoprotein receptor-related protein 12							104	98	100					8																	105509413		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.chr8:105509413A>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.1367T>C	8.37:g.105509413A>G	ENSP00000276654:p.Phe456Ser		Somatic				LRP12_ENST00000424843.2_Missense_Mutation_p.F437S	p.F456S	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	1475	-			456			LDL-receptor class A 5.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.1367T>C	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.206968	0.79127	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.98926	-5.24;-5.24;-5.24	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	H	0.96943	3.91	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.991;0.995	D	0.98272	1.0504	10	0.87932	D	0	-26.858	16.1444	0.81555	1.0:0.0:0.0:0.0	.	437;456	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	S	437;456;45	ENSP00000399148:F437S;ENSP00000276654:F456S;ENSP00000429305:F45S	ENSP00000276654:F456S	F	-	2	0	LRP12	105578589	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	7.306000	0.78905	2.223000	0.72356	0.455000	0.32223	TTC		0.413	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		32	53	0	0	0	1	0	32	53					G	105509413	A	G	105509413	3	3	48	1	0	0	0	0	1	0	0	0	8963	246	9	4	1224	4	LRP12	8	105509413	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	585065	105509413	40854609	2192	6660										
ZFPM2	23414	broad.mit.edu	37	chr8	106811074	106811074	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctccggtgtcagaggaaaatGaagacagtgcccatcagatt	11	9	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:106811074G>T	ENST00000407775.2	+	7	1112	c.862G>T	c.(862-864)Gaa>Taa	p.E288*	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.E19*|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.E156*|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.E156*	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	288					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)			AGAGGAAAATGAAGACAGTGC	0.517																																						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.(862-864)Gaa>Taa		zinc finger protein, FOG family member 2							123	128	127					8																	106811074		2088	4235	6323	SO:0001587	stop_gained	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.chr8:106811074G>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.862G>T	8.37:g.106811074G>T	ENSP00000384179:p.Glu288*		Somatic				ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.E19*|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.E156*|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.E156*|RP11-152P17.2_ENST00000520433.1_RNA	p.E288*	NM_012082.3	NP_036214.2	WXS	Illumina GAIIx	Phase_I	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		7	1112	+			288					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Nonsense_Mutation	SNP	ENST00000407775.2	37	c.862G>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	38	6.861811	0.97893	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	.	.	.	6.06	6.06	0.98353	.	0.045590	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	X	288;156;156;19	.	ENSP00000367733:E19X	E	+	1	0	ZFPM2	106880250	1.000000	0.71417	0.976000	0.42696	0.962000	0.63368	9.476000	0.97823	2.880000	0.98712	0.650000	0.86243	GAA		0.517	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			36	88	1	0	2.40579e-17	1	3.22781e-17	36	88					T	106811074	G	T	106811074	4	4	48	1	0	0	0	0	0	1	0	0	17673	1291	45	2	888	2	ZFPM2	8	106811074	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1301661	106811074	39552948	2193	6661										
OXR1	55074	broad.mit.edu	37	chr8	107691480	107691480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agacaagaaagatggaagacGaatgtcttttcagaaaccta	9	6	2	5	rs541833758		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:107691480G>A	ENST00000442977.2	+	3	365	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	OXR1_ENST00000497705.1_Missense_Mutation_p.R21Q|OXR1_ENST00000517566.2_Missense_Mutation_p.R88Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Missense_Mutation_p.R88Q|OXR1_ENST00000445937.1_Missense_Mutation_p.R88Q|OXR1_ENST00000312046.6_Missense_Mutation_p.R81Q	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	89					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)	p.R89Q(1)		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)			GATGGAAGACGAATGTCTTTT	0.338													G|||	1	0.000199681	0	0	5008	,	,		16014	0		0	False		,,,				2504	0.001					ENST00000445937.1																			1	Substitution - Missense(1)	p.R89Q(1)	lung(1)	NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(262-264)cGa>cAa		oxidation resistance 1							93	96	95					8																	107691480		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107691480G>A	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.266G>A	8.37:g.107691480G>A	ENSP00000405424:p.Arg89Gln		Somatic				OXR1_ENST00000312046.6_Missense_Mutation_p.R81Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000517566.2_Missense_Mutation_p.R88Q|OXR1_ENST00000531443.1_Missense_Mutation_p.R88Q|OXR1_ENST00000442977.2_Missense_Mutation_p.R89Q|OXR1_ENST00000497705.1_Missense_Mutation_p.R21Q	p.R88Q	NM_018002.3	NP_060472.2	WXS	Illumina GAIIx	Phase_I	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		4	524	+			89					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.263G>A	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	G	36	5.743623	0.96873	.	.	ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000517686;ENST00000497705;ENST00000312046	T;T;T;T;T;T;T	0.48836	2.3;2.3;2.32;2.32;0.8;1.3;2.24	5.95	5.95	0.96441	.	.	.	.	.	T	0.66626	0.2808	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.994;0.999;0.997	T	0.60530	-0.7245	9	0.38643	T	0.18	.	20.3818	0.98936	0.0:0.0:1.0:0.0	.	81;89;21;88	Q8N573-2;Q8N573;Q8N573-3;Q8N573-5	.;OXR1_HUMAN;.;.	Q	88;88;88;89;19;21;81	ENSP00000402918:R88Q;ENSP00000431966:R88Q;ENSP00000429205:R88Q;ENSP00000405424:R89Q;ENSP00000429438:R19Q;ENSP00000431014:R21Q;ENSP00000311026:R81Q	ENSP00000311026:R81Q	R	+	2	0	OXR1	107760656	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.203000	0.95033	2.829000	0.97493	0.585000	0.79938	CGA		0.338	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		11	42	0	0	0	1	0	11	42					A	107691480	G	A	107691480	3	1	48	1	0	0	0	0	1	0	0	0	11343	1058	37	1	476	1	OXR1	8	107691480	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	880406	107691480	38672542	2194	6662										
OXR1	55074	broad.mit.edu	37	chr8	107705011	107705011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atctactttcactggtattcGacctgcacgagttgtatctt	7	10	3	0	rs149485264		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:107705011G>A	ENST00000442977.2	+	6	683	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	OXR1_ENST00000497705.1_Missense_Mutation_p.R127Q|OXR1_ENST00000517566.2_Missense_Mutation_p.R194Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Missense_Mutation_p.R194Q|OXR1_ENST00000445937.1_Missense_Mutation_p.R194Q|OXR1_ENST00000312046.6_Missense_Mutation_p.R187Q	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	195					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)	p.R106Q(1)|p.R195Q(1)		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)			ACTGGTATTCGACCTGCACGA	0.343													G|||	1	0.000199681	8e-04	0	5008	,	,		14643	0		0	False		,,,				2504	0					ENST00000445937.1																			2	Substitution - Missense(2)	p.R106Q(1)|p.R195Q(1)	large_intestine(2)	NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(580-582)cGa>cAa		oxidation resistance 1		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	85	85	85		584,581,581,560	3.2	1	8	dbSNP_134	85	0,8600		0,0,4300	yes	missense,missense,missense,missense	OXR1	NM_001198532.1,NM_001198533.1,NM_018002.3,NM_181354.4	43,43,43,43	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	195/875,194/874,194/847,187/840	107705011	3,13003	2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107705011G>A	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.584G>A	8.37:g.107705011G>A	ENSP00000405424:p.Arg195Gln		Somatic				OXR1_ENST00000312046.6_Missense_Mutation_p.R187Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000517566.2_Missense_Mutation_p.R194Q|OXR1_ENST00000531443.1_Missense_Mutation_p.R194Q|OXR1_ENST00000442977.2_Missense_Mutation_p.R195Q|OXR1_ENST00000497705.1_Missense_Mutation_p.R127Q	p.R194Q	NM_018002.3	NP_060472.2	WXS	Illumina GAIIx	Phase_I	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		7	842	+			195					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.581G>A	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.51|15.51	2.855985|2.855985	0.51376|0.51376	6.81E-4|6.81E-4	0.0|0.0	ENSG00000164830|ENSG00000164830	ENST00000517455|ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000497705;ENST00000312046	.|T;T;T;T;T;T	.|0.23754	.|2.72;2.72;2.7;2.7;1.89;2.69	5.06|5.06	3.25|3.25	0.37280|0.37280	.|.	.|0.066956	.|0.64402	.|D	.|0.000010	T|T	0.40398|0.40398	0.1115|0.1115	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;0.998;1.0;0.999	.|D;P;D;D	.|0.71414	.|0.932;0.856;0.973;0.932	T|T	0.10154|0.10154	-1.0642|-1.0642	5|10	.|0.35671	.|T	.|0.21	-13.8266|-13.8266	11.4862|11.4862	0.50354|0.50354	0.1515:0.0:0.8485:0.0|0.1515:0.0:0.8485:0.0	.|.	.|187;195;127;194	.|Q8N573-2;Q8N573;Q8N573-3;Q8N573-5	.|.;OXR1_HUMAN;.;.	N|Q	111|194;194;194;195;127;187	.|ENSP00000402918:R194Q;ENSP00000431966:R194Q;ENSP00000429205:R194Q;ENSP00000405424:R195Q;ENSP00000431014:R127Q;ENSP00000311026:R187Q	.|ENSP00000311026:R187Q	D|R	+|+	1|2	0|0	OXR1|OXR1	107774187|107774187	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.152000|0.152000	0.21847|0.21847	5.033000|5.033000	0.64146|0.64146	1.131000|1.131000	0.42111|0.42111	-0.350000|-0.350000	0.07774|0.07774	GAC|CGA		0.343	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		14	23	0	0	0	1	0	14	23					A	107705011	G	A	107705011	3	1	48	1	0	0	0	0	1	0	0	0	11343	1058	37	1	806	1	OXR1	8	107705011	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	13531	107705011	38659011	2195	6663										
OXR1	55074	broad.mit.edu	37	chr8	107722985	107722985	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtatgcacagagagataagaAacatgaatattggtttgctg	11	4	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:107722985A>C	ENST00000442977.2	+	9	1862	c.1763A>C	c.(1762-1764)aAa>aCa	p.K588T	OXR1_ENST00000517566.2_Missense_Mutation_p.K587T|OXR1_ENST00000452423.2_Missense_Mutation_p.K77T|OXR1_ENST00000531443.1_Missense_Mutation_p.K587T|OXR1_ENST00000445937.1_Missense_Mutation_p.K587T|OXR1_ENST00000312046.6_Missense_Mutation_p.K580T	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	588					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)			AGAGATAAGAAACATGAATAT	0.358																																						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.(1759-1761)aAa>aCa		oxidation resistance 1							119	110	113					8																	107722985		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107722985A>C	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.1763A>C	8.37:g.107722985A>C	ENSP00000405424:p.Lys588Thr		Somatic				OXR1_ENST00000312046.6_Missense_Mutation_p.K580T|OXR1_ENST00000452423.2_Missense_Mutation_p.K77T|OXR1_ENST00000517566.2_Missense_Mutation_p.K587T|OXR1_ENST00000531443.1_Missense_Mutation_p.K587T|OXR1_ENST00000442977.2_Missense_Mutation_p.K588T	p.K587T	NM_018002.3	NP_060472.2	WXS	Illumina GAIIx	Phase_I	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		10	2021	+			588					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.1760A>C	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.480479|4.480479	0.84747|0.84747	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000452423;ENST00000442977;ENST00000312046|ENST00000519415	T;T;T;T;T;T|.	0.20200|.	2.41;2.41;2.39;2.09;2.39;2.41|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.093907|.	0.64402|.	D|.	0.000001|.	T|T	0.75317|0.75317	0.3833|0.3833	M|M	0.77103|0.77103	2.36|2.36	0.52501|0.52501	D|D	0.99995|0.99995	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.992;0.999;0.999;0.994|.	T|T	0.76446|0.76446	-0.2956|-0.2956	10|5	0.51188|.	T|.	0.08|.	-29.4607|-29.4607	14.569|14.569	0.68200|0.68200	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	580;588;587;587|.	Q8N573-2;Q8N573;D3HIS6;Q8N573-5|.	.;OXR1_HUMAN;.;.|.	T|H	587;587;587;77;588;580|301	ENSP00000402918:K587T;ENSP00000431966:K587T;ENSP00000429205:K587T;ENSP00000395032:K77T;ENSP00000405424:K588T;ENSP00000311026:K580T|.	ENSP00000311026:K580T|.	K|N	+|+	2|1	0|0	OXR1|OXR1	107792161|107792161	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.895000|0.895000	0.52256|0.52256	8.913000|8.913000	0.92730|0.92730	2.183000|2.183000	0.69458|0.69458	0.383000|0.383000	0.25322|0.25322	AAA|AAC		0.358	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		13	30	0	0	0	1	0	13	30					C	107722985	A	C	107722985	3	2	48	1	0	0	0	0	1	0	0	0	11343	14	1	4	1997	4	OXR1	8	107722985	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	17974	107722985	38641037	2196	6664										
ABRA	137735	broad.mit.edu	37	chr8	107773289	107773289	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgagtagcgtaatcacaacAtggtcatctcggccttgcca	9	11	3	1	rs202188968		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:107773289A>C	ENST00000311955.3	-	2	1176	c.1122T>G	c.(1120-1122)caT>caG	p.H374Q		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)			TAATCACAACATGGTCATCTC	0.418																																						ENST00000311955.3																			0				breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27						c.(1120-1122)caT>caG		actin-binding Rho activating protein							208	193	198					8																	107773289		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.chr8:107773289A>C	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.1122T>G	8.37:g.107773289A>C	ENSP00000311436:p.His374Gln		Somatic					p.H374Q	NM_139166.4	NP_631905.1	WXS	Illumina GAIIx	Phase_I	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		2	1176	-			374			Interaction with actin (By similarity).			Missense_Mutation	SNP	ENST00000311955.3	37	c.1122T>G	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.132716	0.56828	.	.	ENSG00000174429	ENST00000311955	.	.	.	5.76	-5.16	0.02857	.	0.320500	0.37809	N	0.001924	T	0.49881	0.1583	M	0.69823	2.125	0.43608	D	0.995974	B	0.20261	0.043	B	0.20955	0.032	T	0.10636	-1.0621	9	0.48119	T	0.1	-13.004	4.9225	0.13876	0.4679:0.0:0.3194:0.2127	.	374	Q8N0Z2	ABRA_HUMAN	Q	374	.	ENSP00000311436:H374Q	H	-	3	2	ABRA	107842465	0.219000	0.23619	0.962000	0.40283	0.882000	0.50991	-0.240000	0.08952	-0.762000	0.04664	-0.417000	0.06048	CAT		0.418	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		50	84	0	0	0	1	0	50	84					C	107773289	A	C	107773289	3	2	48	1	0	0	0	0	1	0	0	0	100	214	8	4	27	4	ABRA	8	107773289	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	50304	107773289	38590733	2197	6665										
TRHR	7201	broad.mit.edu	37	chr8	110099941	110099941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaactgctacctggtgagccTggcagtagctgatctcatgg	12	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:110099941T>C	ENST00000518632.1	+	2	551	c.200T>C	c.(199-201)cTg>cCg	p.L67P	TRHR_ENST00000311762.2_Missense_Mutation_p.L67P			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	67					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTGGTGAGCCTGGCAGTAGCT	0.527																																						ENST00000518632.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(199-201)cTg>cCg		thyrotropin-releasing hormone receptor							149	135	140					8																	110099941		2203	4300	6503	SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110099941T>C		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.200T>C	8.37:g.110099941T>C	ENSP00000430711:p.Leu67Pro		Somatic				TRHR_ENST00000311762.2_Missense_Mutation_p.L67P	p.L67P			WXS	Illumina GAIIx	Phase_I	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	551	+			67					Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.200T>C	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961306	0.74016	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	D;D	0.91521	-2.86;-2.86	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97739	0.9258	H	0.99675	4.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99437	1.0937	10	0.87932	D	0	-26.0664	15.4167	0.74974	0.0:0.0:0.0:1.0	.	67	P34981	TRFR_HUMAN	P	67	ENSP00000430711:L67P;ENSP00000309818:L67P	ENSP00000309818:L67P	L	+	2	0	TRHR	110169117	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.033000	0.88852	2.238000	0.73509	0.533000	0.62120	CTG		0.527	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			27	63	0	0	0	1	0	27	63					C	110099941	T	C	110099941	3	2	48	1	0	0	0	0	1	0	0	0	16495	1580	55	4	202	4	TRHR	8	110099941	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2326652	110099941	36264081	2198	6666										
PKHD1L1	93035	broad.mit.edu	37	chr8	110420308	110420308	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgcttggttatgaagtagTtgaagggaataatgtcacac	11	5	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:110420308T>C	ENST00000378402.5	+	18	1948	c.1844T>C	c.(1843-1845)gTt>gCt	p.V615A		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)			TATGAAGTAGTTGAAGGGAAT	0.343										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>gCt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							92	89	90					8																	110420308		1851	4091	5942	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110420308T>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.1844T>C	8.37:g.110420308T>C	ENSP00000367655:p.Val615Ala	HNSCC(38;0.096)	Somatic					p.V615A	NM_177531.4	NP_803875.2	WXS	Illumina GAIIx	Phase_I	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		18	1948	+			615					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1844T>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	8.918	0.960352	0.18507	.	.	ENSG00000205038	ENST00000378402	D	0.85171	-1.95	5.58	4.44	0.53790	.	0.589948	0.17174	N	0.184180	T	0.64125	0.2570	N	0.03608	-0.345	0.20403	N	0.999907	B	0.06786	0.001	B	0.01281	0.0	T	0.50021	-0.8876	10	0.19590	T	0.45	.	6.2597	0.20893	0.0:0.176:0.0:0.824	.	615	Q86WI1	PKHL1_HUMAN	A	615	ENSP00000367655:V615A	ENSP00000367655:V615A	V	+	2	0	PKHD1L1	110489484	0.748000	0.28294	0.953000	0.39169	0.442000	0.32017	1.193000	0.32162	2.131000	0.65755	0.460000	0.39030	GTT		0.343	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		13	27	0	0	0	1	0	13	27					C	110420308	T	C	110420308	3	2	48	1	0	0	0	0	1	0	0	0	11981	1725	60	4	1914	4	PKHD1L1	8	110420308	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	320367	110420308	35943714	2199	6667										
PKHD1L1	93035	broad.mit.edu	37	chr8	110504169	110504169	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcactttcggtttggccaggAacctatcagaacagaaaaga	10	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:110504169A>G	ENST00000378402.5	+	62	10286	c.10182A>G	c.(10180-10182)ggA>ggG	p.G3394G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3394					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)			TTTGGCCAGGAACCTATCAGA	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.(10180-10182)ggA>ggG		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							39	41	40					8																	110504169		1811	4079	5890	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110504169A>G	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.10182A>G	8.37:g.110504169A>G		HNSCC(38;0.096)	Somatic					p.G3394G	NM_177531.4	NP_803875.2	WXS	Illumina GAIIx	Phase_I	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		62	10286	+			3394					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.10182A>G	CCDS47911.1																																																																																				0.348	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		7	9	0	0	0	1	0	7	9					G	110504169	A	G	110504169	2	3	48	1	0	0	0	0	0	0	0	1	11981	233	9	4		4	PKHD1L1	8	110504169	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	83861	110504169	35859853	2200	6668										
CSMD3	114788	broad.mit.edu	37	chr8	113246683	113246683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atatatgcgtaacattaggcGagcttcctggcttttatata	8	7	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:113246683G>A	ENST00000297405.5	-	68	10895	c.10651C>T	c.(10651-10653)Cgc>Tgc	p.R3551C	CSMD3_ENST00000455883.2_Missense_Mutation_p.R3382C|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3481C|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3511C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3551						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						AACATTAGGCGAGCTTCCTGG	0.328										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.(10651-10653)Cgc>Tgc		CUB and Sushi multiple domains 3							152	149	150					8																	113246683		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113246683G>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.10651C>T	8.37:g.113246683G>A	ENSP00000297405:p.Arg3551Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000343508.3_Missense_Mutation_p.R3511C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3382C|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3481C	p.R3551C	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			68	10895	-			3551					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10651C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773249	0.90108	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.27720	1.97;1.97;2.0;1.65;1.99	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000004	T	0.51991	0.1707	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.79108	0.992;0.982;0.921	T	0.51772	-0.8663	10	0.72032	D	0.01	.	18.8461	0.92208	0.0:0.0:1.0:0.0	.	3382;3551;3511	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	3511;3551;2821;3382;3481	ENSP00000345799:R3511C;ENSP00000297405:R3551C;ENSP00000341558:R2821C;ENSP00000412263:R3382C;ENSP00000343124:R3481C	ENSP00000297405:R3551C	R	-	1	0	CSMD3	113315859	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.757000	0.62213	2.690000	0.91761	0.655000	0.94253	CGC		0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		28	63	0	0	0	1	0	28	63					A	113246683	G	A	113246683	3	1	48	1	0	0	0	0	1	0	0	0	3948	1058	37	1	488	1	CSMD3	8	113246683	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2742514	113246683	33117339	2201	6669										
CSMD3	114788	broad.mit.edu	37	chr8	113316973	113316973	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcaatatggtctttcatttCtccaactccaagtaccatta	5	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:113316973C>A	ENST00000297405.5	-	52	8487	c.8243G>T	c.(8242-8244)aGa>aTa	p.R2748I	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2678I|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2708I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2748	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTTTCATTTCTCCAACTCCA	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.(8242-8244)aGa>aTa		CUB and Sushi multiple domains 3							135	120	125					8																	113316973		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113316973C>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.8243G>T	8.37:g.113316973C>A	ENSP00000297405:p.Arg2748Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000343508.3_Missense_Mutation_p.R2708I|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2678I	p.R2748I	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			52	8487	-			2748			Sushi 16.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8243G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159035	0.78226	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000352409	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.04	5.04	0.67666	Complement control module (2);Sushi/SCR/CCP (3);	0.071147	0.53938	D	0.000044	T	0.42017	0.1184	L	0.40543	1.245	0.80722	D	1	D;P	0.61697	0.99;0.584	D;B	0.65773	0.938;0.212	T	0.09729	-1.0661	10	0.35671	T	0.21	.	18.7481	0.91802	0.0:1.0:0.0:0.0	.	2748;2708	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	I	2708;2748;2018;2678	ENSP00000345799:R2708I;ENSP00000297405:R2748I;ENSP00000341558:R2018I;ENSP00000343124:R2678I	ENSP00000297405:R2748I	R	-	2	0	CSMD3	113386149	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.200000	0.51051	2.455000	0.83008	0.655000	0.94253	AGA		0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		14	25	1	0	1.01871e-10	1	1.25646e-10	14	25					A	113316973	C	A	113316973	3	1	48	1	0	0	0	0	1	0	0	0	3948	913	32	2	2960	2	CSMD3	8	113316973	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	70290	113316973	33047049	2202	6670										
CSMD3	114788	broad.mit.edu	37	chr8	113529438	113529438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggacccctgggtcacgacaCgcagtggcaacagaacctat	12	13	1	1	rs563110439		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:113529438C>T	ENST00000297405.5	-	28	4825	c.4581G>A	c.(4579-4581)gcG>gcA	p.A1527A	CSMD3_ENST00000455883.2_Silent_p.A1423A|CSMD3_ENST00000352409.3_Silent_p.A1527A|CSMD3_ENST00000343508.3_Silent_p.A1487A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1527	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTCACGACACGCAGTGGCAA	0.403										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.(4579-4581)gcG>gcA		CUB and Sushi multiple domains 3							51	46	48					8																	113529438		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113529438C>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.4581G>A	8.37:g.113529438C>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000343508.3_Silent_p.A1487A|CSMD3_ENST00000455883.2_Silent_p.A1423A|CSMD3_ENST00000352409.3_Silent_p.A1527A	p.A1527A	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			28	4825	-			1527			Sushi 8.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.4581G>A	CCDS6315.1																																																																																				0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		19	18	0	0	0	1	0	19	18					T	113529438	C	T	113529438	2	4	48	1	0	0	0	0	0	0	0	1	3948	523	19	1		1	CSMD3	8	113529438	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	212465	113529438	32834584	2203	6671										
CSMD3	114788	broad.mit.edu	37	chr8	113960026	113960026	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttaaaatattacctaaaatCtgatccgattctcttcccat	2	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:113960026C>A	ENST00000297405.5	-	9	1745	c.1501G>T	c.(1501-1503)Gat>Tat	p.D501Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.D397Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D501Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D461Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	501	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						TACCTAAAATCTGATCCGATT	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.(1501-1503)Gat>Tat		CUB and Sushi multiple domains 3							69	71	70					8																	113960026		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113960026C>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.1501G>T	8.37:g.113960026C>A	ENSP00000297405:p.Asp501Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000343508.3_Missense_Mutation_p.D461Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D397Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D501Y	p.D501Y	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			9	1745	-			501			Sushi 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1501G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158070	0.57368	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.19	5.19	0.71726	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.51041	0.1651	M	0.61703	1.905	0.46901	D	0.99924	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.993	T	0.51787	-0.8661	10	0.72032	D	0.01	.	19.082	0.93186	0.0:1.0:0.0:0.0	.	397;501;461	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	461;501;397;501	ENSP00000345799:D461Y;ENSP00000297405:D501Y;ENSP00000412263:D397Y;ENSP00000343124:D501Y	ENSP00000297405:D501Y	D	-	1	0	CSMD3	114029202	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.124000	0.77185	2.584000	0.87258	0.555000	0.69702	GAT		0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	8	1	0	0.00909568	1	0.00935351	4	8					A	113960026	C	A	113960026	3	1	48	1	0	0	0	0	1	0	0	0	3948	913	32	2	9874	2	CSMD3	8	113960026	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	430588	113960026	32403996	2204	6672										
TNFRSF11B	4982	broad.mit.edu	37	chr8	119941087	119941087	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cactgcaatttgtgtgttttCtacagggtgctttagatgac	10	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:119941087C>T	ENST00000297350.4	-	3	860	c.482G>A	c.(481-483)aGa>aAa	p.R161K		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	161					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TGTGTGTTTTCTACAGGGTGC	0.413																																						ENST00000297350.4																			0				breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25						c.(481-483)aGa>aAa		tumor necrosis factor receptor superfamily, member 11b							214	195	201					8																	119941087		2203	4300	6503	SO:0001583	missense	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119941087C>T	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.482G>A	8.37:g.119941087C>T	ENSP00000297350:p.Arg161Lys		Somatic					p.R161K	NM_002546.3	NP_002537.3	WXS	Illumina GAIIx	Phase_I	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		3	860	-	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)		161					B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	c.482G>A	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823452	0.32237	.	.	ENSG00000164761	ENST00000297350	T	0.59638	0.25	5.73	4.85	0.62838	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.330707	0.34879	N	0.003614	T	0.38214	0.1032	N	0.21324	0.655	0.19945	N	0.999943	B	0.18310	0.027	B	0.18871	0.023	T	0.17107	-1.0380	9	.	.	.	-24.9699	6.4051	0.21660	0.2706:0.5982:0.0:0.1311	.	161	O00300	TR11B_HUMAN	K	161	ENSP00000297350:R161K	.	R	-	2	0	TNFRSF11B	120010268	0.007000	0.16637	1.000000	0.80357	0.997000	0.91878	0.660000	0.25009	1.400000	0.46741	0.650000	0.86243	AGA		0.413	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			32	50	0	0	0	1	0	32	50					T	119941087	C	T	119941087	3	4	48	1	0	0	0	0	1	0	0	0	16300	913	32	3	735	3	TNFRSF11B	8	119941087	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5981061	119941087	26422935	2205	6673										
COLEC10	10584	broad.mit.edu	37	chr8	120079578	120079578	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttatcctcctggtactatttCttttgcaaattcagagtctg	6	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:120079578C>A	ENST00000332843.2	+	1	99	c.58C>A	c.(58-60)Ctt>Att	p.L20I	RP11-278I4.2_ENST00000518362.1_RNA|COLEC10_ENST00000521788.1_Intron	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	20						collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGTACTATTTCTTTTGCAAAT	0.453																																						ENST00000332843.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(58-60)Ctt>Att		collectin sub-family member 10 (C-type lectin)							101	96	98					8																	120079578		2203	4300	6503	SO:0001583	missense	10584					collagen|cytoplasm	mannose binding	g.chr8:120079578C>A	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"Collectins"	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.58C>A	8.37:g.120079578C>A	ENSP00000332723:p.Leu20Ile		Somatic				COLEC10_ENST00000521788.1_Intron|RP11-278I4.2_ENST00000518362.1_RNA	p.L20I	NM_006438.3	NP_006429.2	WXS	Illumina GAIIx	Phase_I	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		1	99	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		20					Q3SYH6|Q6UW19	Missense_Mutation	SNP	ENST00000332843.2	37	c.58C>A	CCDS6327.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211936	0.39102	.	.	ENSG00000184374	ENST00000332843	D	0.96427	-4.01	5.72	5.72	0.89469	.	0.062950	0.64402	D	0.000008	D	0.91126	0.7206	N	0.19112	0.55	0.30432	N	0.777079	B	0.32467	0.372	B	0.29267	0.1	D	0.87194	0.2236	10	0.23302	T	0.38	-15.0621	13.7429	0.62857	0.1535:0.8465:0.0:0.0	.	20	Q9Y6Z7	COL10_HUMAN	I	20	ENSP00000332723:L20I	ENSP00000332723:L20I	L	+	1	0	COLEC10	120148759	0.998000	0.40836	0.997000	0.53966	0.628000	0.37860	1.056000	0.30480	2.709000	0.92574	0.563000	0.77884	CTT		0.453	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			16	32	1	0	3.45872e-05	1	3.78815e-05	16	32					A	120079578	C	A	120079578	3	1	48	1	0	0	0	0	1	0	0	0	3712	913	32	2	60	2	COLEC10	8	120079578	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	138491	120079578	26284444	2206	6674										
COL14A1	7373	broad.mit.edu	37	chr8	121243839	121243839	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acagctcaaggggaccctgaGgaagaagtcataggaacggt	14	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:121243839G>T	ENST00000297848.3	+	19	2601	c.2331G>T	c.(2329-2331)gaG>gaT	p.E777D	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.E682D|COL14A1_ENST00000309791.4_Missense_Mutation_p.E777D|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)			GGGACCCTGAGGAAGAAGTCA	0.443																																						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.(2329-2331)gaG>gaT		collagen, type XIV, alpha 1							88	81	84					8																	121243839		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121243839G>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.2331G>T	8.37:g.121243839G>T	ENSP00000297848:p.Glu777Asp		Somatic				COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.E777D|COL14A1_ENST00000247781.3_Missense_Mutation_p.E682D|COL14A1_ENST00000432943.2_3'UTR	p.E777D	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)		19	2601	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		777			Fibronectin type-III 6.			Missense_Mutation	SNP	ENST00000297848.3	37	c.2331G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	8.270	0.813103	0.16537	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.55	-1.58	0.08479	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.672683	0.15389	N	0.264921	T	0.27205	0.0667	N	0.25332	0.735	0.80722	D	1	B;B	0.25007	0.116;0.001	B;B	0.25884	0.064;0.001	T	0.10917	-1.0609	10	0.15066	T	0.55	.	0.3238	0.00307	0.2359:0.2012:0.3067:0.2562	.	777;777	Q05707-2;Q05707	.;COEA1_HUMAN	D	777;777;682;590	ENSP00000311809:E777D;ENSP00000297848:E777D;ENSP00000247781:E682D;ENSP00000409461:E590D	ENSP00000247781:E682D	E	+	3	2	COL14A1	121313020	0.029000	0.19370	0.457000	0.27056	0.890000	0.51754	-0.601000	0.05687	-0.164000	0.10927	0.561000	0.74099	GAG		0.443	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		9	24	1	0	3.09899e-07	1	3.54467e-07	9	24					T	121243839	G	T	121243839	3	4	48	1	0	0	0	0	1	0	0	0	3673	991	35	5	2401	5	COL14A1	8	121243839	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1164261	121243839	25120183	2207	6675										
MTBP	27085	broad.mit.edu	37	chr8	121528236	121528236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acttcagtctcgtcttattcGttatgaaactcaaactacct	4	11	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:121528236G>A	ENST00000305949.1	+	18	2096	c.2051G>A	c.(2050-2052)cGt>cAt	p.R684H		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	684	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)			CGTCTTATTCGTTATGAAACT	0.408																																						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.(2050-2052)cGt>cAt		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							125	120	122					8																	121528236		2203	4299	6502	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121528236G>A		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"MDM2 (mouse double minute 2)-binding protein, 104kD", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.2051G>A	8.37:g.121528236G>A	ENSP00000303398:p.Arg684His		Somatic					p.R684H	NM_022045.3	NP_071328.2	WXS	Illumina GAIIx	Phase_I	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		18	2096	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		684			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.2051G>A	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319509	0.95682	.	.	ENSG00000172167	ENST00000305949	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.82545	0.5060	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.82566	-0.0393	9	0.87932	D	0	-19.7041	20.6593	0.99626	0.0:0.0:1.0:0.0	.	684	Q96DY7	MTBP_HUMAN	H	684	.	ENSP00000303398:R684H	R	+	2	0	MTBP	121597417	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.046000	0.76592	2.885000	0.99019	0.655000	0.94253	CGT		0.408	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		20	44	0	0	0	1	0	20	44					A	121528236	G	A	121528236	3	1	48	1	0	0	0	0	1	0	0	0	9921	1145	40	1	2121	1	MTBP	8	121528236	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	284397	121528236	24835786	2208	6676										
HAS2	3037	broad.mit.edu	37	chr8	122641078	122641078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaattgcgttacgtgttgcGagctttctttatgtgactca	9	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:122641078G>A	ENST00000303924.4	-	2	1040	c.503C>T	c.(502-504)tCg>tTg	p.S168L		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	168					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)			TACGTGTTGCGAGCTTTCTTT	0.448																																						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.(502-504)tCg>tTg		hyaluronan synthase 2							376	327	344					8																	122641078		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641078G>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.503C>T	8.37:g.122641078G>A	ENSP00000306991:p.Ser168Leu		Somatic					p.S168L	NM_005328.2	NP_005319.1	WXS	Illumina GAIIx	Phase_I	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	1040	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		168					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.503C>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	G	5.338	0.247611	0.10130	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.43688	0.94	5.87	5.87	0.94306	.	0.480009	0.22302	N	0.061853	T	0.20414	0.0491	N	0.08118	0	0.32306	N	0.564442	B	0.02656	0.0	B	0.01281	0.0	T	0.23511	-1.0186	10	0.15952	T	0.53	-4.3164	8.0339	0.30480	0.1846:0.0:0.8154:0.0	.	168	Q92819	HAS2_HUMAN	L	168	ENSP00000306991:S168L	ENSP00000306991:S168L	S	-	2	0	HAS2	122710259	1.000000	0.71417	0.955000	0.39395	0.012000	0.07955	6.378000	0.73150	2.941000	0.99782	0.655000	0.94253	TCG		0.448	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		59	124	0	0	0	1	0	59	124					A	122641078	G	A	122641078	3	1	48	1	0	0	0	0	1	0	0	0	6971	1059	37	1	1167	1	HAS2	8	122641078	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1112842	122641078	23722944	2209	6677										
C8orf76	84933	broad.mit.edu	37	chr8	124243893	124243893	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggatgcaaagaaatcagtttCtgcaggcagaaaattgtttt	10	5	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:124243893C>A	ENST00000276704.4	-	4	513	c.462G>T	c.(460-462)caG>caT	p.Q154H	ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.Q122H|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	154										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AAATCAGTTTCTGCAGGCAGA	0.443																																						ENST00000276704.4																			0				NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17						c.(460-462)caG>caT		chromosome 8 open reading frame 76							85	93	90					8																	124243893		2203	4300	6503	SO:0001583	missense	84933						binding	g.chr8:124243893C>A	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.462G>T	8.37:g.124243893C>A	ENSP00000276704:p.Gln154His		Somatic				C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.Q122H	p.Q154H	NM_032847.2	NP_116236.1	WXS	Illumina GAIIx	Phase_I	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		4	513	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		154					Q53HC1	Missense_Mutation	SNP	ENST00000276704.4	37	c.462G>T	CCDS6341.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454916	0.43634	.	.	ENSG00000189376	ENST00000276704;ENST00000357082	T;T	0.78003	-1.14;-1.14	5.74	1.39	0.22231	Tetratricopeptide-like helical (1);	0.049658	0.85682	N	0.000000	T	0.69557	0.3124	L	0.53780	1.695	0.39532	D	0.968673	B;B	0.32203	0.36;0.36	B;B	0.32022	0.139;0.139	T	0.66460	-0.5918	10	0.52906	T	0.07	-2.4691	9.0775	0.36531	0.0:0.6793:0.1107:0.21	.	122;154	Q96EF9;Q96K31	.;CH076_HUMAN	H	154;122	ENSP00000276704:Q154H;ENSP00000349593:Q122H	ENSP00000276704:Q154H	Q	-	3	2	C8orf76	124313074	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.777000	0.26718	0.350000	0.24002	-0.150000	0.13652	CAG		0.443	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		44	86	1	0	2.24893e-16	1	2.99237e-16	44	86					A	124243893	C	A	124243893	3	1	48	1	0	0	0	0	1	0	0	0	2439	912	32	2	692	2	C8orf76	8	124243893	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1602815	124243893	22120129	2210	6678										
ATAD2	29028	broad.mit.edu	37	chr8	124358483	124358483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctactatcaatattcttggtCgaaaagacataggttggtaa	8	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:124358483C>T	ENST00000287394.5	-	18	2482	c.2375G>A	c.(2374-2376)cGa>cAa	p.R792Q	MIR548AA1_ENST00000384971.2_RNA|ATAD2_ENST00000521903.1_Missense_Mutation_p.R110Q	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	792					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)			TATTCTTGGTCGAAAAGACAT	0.343																																						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.(2374-2376)cGa>cAa		ATPase family, AAA domain containing 2							74	72	73					8																	124358483		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124358483C>T	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.2375G>A	8.37:g.124358483C>T	ENSP00000287394:p.Arg792Gln		Somatic				ATAD2_ENST00000521903.1_Missense_Mutation_p.R110Q	p.R792Q	NM_014109.3	NP_054828.2	WXS	Illumina GAIIx	Phase_I	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		18	2482	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		792					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.2375G>A	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	36	5.899731	0.97081	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;D	0.82711	-1.64;-1.64	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.91099	0.7198	M	0.71036	2.16	0.52501	D	0.999959	D	0.89917	1.0	D	0.73380	0.98	D	0.90653	0.4584	10	0.66056	D	0.02	-11.763	20.547	0.99278	0.0:1.0:0.0:0.0	.	792	Q6PL18	ATAD2_HUMAN	Q	792;110	ENSP00000287394:R792Q;ENSP00000429213:R110Q	ENSP00000287394:R792Q	R	-	2	0	ATAD2	124427664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.850000	0.98022	0.650000	0.86243	CGA		0.343	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		16	43	0	0	0	1	0	16	43					T	124358483	C	T	124358483	3	4	48	1	0	0	0	0	1	0	0	0	1071	884	31	1	1841	1	ATAD2	8	124358483	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	114590	124358483	22005539	2211	6679										
KLHL38	340359	broad.mit.edu	37	chr8	124663962	124663962	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcagatgctgtcataccttTccatggagcccatgagctcc	9	13	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:124663962T>G	ENST00000325995.7	-	1	1228	c.1205A>C	c.(1204-1206)gAa>gCa	p.E402A	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	402										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GTCATACCTTTCCATGGAGCC	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.(1204-1206)gAa>gCa		kelch-like family member 38							71	70	70					8																	124663962		2027	4183	6210	SO:0001583	missense	340359							g.chr8:124663962T>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.1205A>C	8.37:g.124663962T>G	ENSP00000321475:p.Glu402Ala		Somatic				CTD-2552K11.2_ENST00000524355.1_RNA	p.E402A	NM_001081675.2	NP_001075144.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ6	KLH38_HUMAN			1	1228	-			402					A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.1205A>C	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.561895	0.65538	.	.	ENSG00000175946	ENST00000325995	D	0.84442	-1.85	5.48	5.48	0.80851	Kelch-type beta propeller (1);	0.140034	0.64402	D	0.000005	D	0.94479	0.8223	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95909	0.8921	10	0.87932	D	0	.	15.574	0.76362	0.0:0.0:0.0:1.0	.	402	Q2WGJ6	KLH38_HUMAN	A	402	ENSP00000321475:E402A	ENSP00000321475:E402A	E	-	2	0	KLHL38	124733143	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	6.245000	0.72398	2.079000	0.62486	0.459000	0.35465	GAA		0.567	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			8	59	0	0	0	1	0	8	59					G	124663962	T	G	124663962	3	3	48	1	0	0	0	0	1	0	0	0	8399	1783	62	4	552	4	KLHL38	8	124663962	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	305479	124663962	21700060	2212	6680										
ANXA13	312	broad.mit.edu	37	chr8	124701112	124701112	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctcctaactttactttaccGagagttaaataggccttctg	6	10	2	1	rs367655009		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:124701112G>A	ENST00000419625.1	-	9	789	c.717C>T	c.(715-717)ctC>ctT	p.L239L	ANXA13_ENST00000262219.6_Splice_Site_p.L280L	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	239					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)			TTACTTTACCGAGAGTTAAAT	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.e10+1		annexin A13							134	119	124					8																	124701112		2203	4300	6503	SO:0001630	splice_region_variant	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124701112G>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.718+1C>T	8.37:g.124701112G>A			Somatic				ANXA13_ENST00000419625.1_Splice_Site_p.L239_splice	p.L280_splice	NM_001003954.1	NP_001003954.1	WXS	Illumina GAIIx	Phase_I	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		10	907	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		239					Q9BQR5	Splice_Site	SNP	ENST00000419625.1	37	c.841_splice	CCDS47917.1																																																																																				0.443	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306	Silent	23	38	0	0	0	1	0	23	38					A	124701112	G	A	124701112	5	1	48	1	0	0	0	0	0	0	1	0	717	1072	37	1	245	1	ANXA13	8	124701112	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	37150	124701112	21662910	2213	6681										
FER1L6	654463	broad.mit.edu	37	chr8	125088538	125088538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagaccgggataaatacatcCctaaacaactgaacccagta	6	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:125088538C>T	ENST00000522917.1	+	32	4398	c.4192C>T	c.(4192-4194)Cct>Tct	p.P1398S	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1398S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1398	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TAAATACATCCCTAAACAACT	0.443																																						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.(4192-4194)Cct>Tct		fer-1-like 6 (C. elegans)							175	171	172					8																	125088538		1919	4126	6045	SO:0001583	missense	654463					integral to membrane		g.chr8:125088538C>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.4192C>T	8.37:g.125088538C>T	ENSP00000428280:p.Pro1398Ser		Somatic				FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1398S	p.P1398S	NM_001039112.2	NP_001034201.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		32	4398	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1398			C2 5.			Missense_Mutation	SNP	ENST00000522917.1	37	c.4192C>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518092	0.27211	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.67523	-0.27;-0.27	5.47	5.47	0.80525	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	0.70509	0.3232	N	0.16307	0.4	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.66956	-0.5792	10	0.22109	T	0.4	-19.0592	19.7017	0.96057	0.0:1.0:0.0:0.0	.	1398	Q2WGJ9	FR1L6_HUMAN	S	1398	ENSP00000428280:P1398S;ENSP00000381982:P1398S	ENSP00000381982:P1398S	P	+	1	0	FER1L6	125157719	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.954000	0.40362	2.724000	0.93272	0.561000	0.74099	CCT		0.443	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		68	116	0	0	0	1	0	68	116					T	125088538	C	T	125088538	3	4	48	1	0	0	0	0	1	0	0	0	5823	623	22	3	4314	3	FER1L6	8	125088538	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	387426	125088538	21275484	2214	6682										
FER1L6	654463	broad.mit.edu	37	chr8	125131132	125131132	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttacagcagaagaagctgaGaaaaatcctgttggaaaagc	11	6	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:125131132G>T	ENST00000522917.1	+	40	5543	c.5337G>T	c.(5335-5337)gaG>gaT	p.E1779D	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E1779D	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1779						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)			AAGAAGCTGAGAAAAATCCTG	0.498																																						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.(5335-5337)gaG>gaT		fer-1-like 6 (C. elegans)							62	62	62					8																	125131132		1850	4105	5955	SO:0001583	missense	654463					integral to membrane		g.chr8:125131132G>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.5337G>T	8.37:g.125131132G>T	ENSP00000428280:p.Glu1779Asp		Somatic				FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E1779D	p.E1779D	NM_001039112.2	NP_001034201.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		40	5543	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1779						Missense_Mutation	SNP	ENST00000522917.1	37	c.5337G>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497160	0.64186	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.83163	-1.69;-1.69	5.69	4.63	0.57726	.	0.000000	0.85682	U	0.000000	T	0.76608	0.4011	L	0.48260	1.515	0.54753	D	0.999988	P	0.45768	0.866	B	0.40825	0.341	T	0.74748	-0.3560	10	0.29301	T	0.29	-23.983	11.9823	0.53127	0.1475:0.0:0.8525:0.0	.	1779	Q2WGJ9	FR1L6_HUMAN	D	1779	ENSP00000428280:E1779D;ENSP00000381982:E1779D	ENSP00000381982:E1779D	E	+	3	2	FER1L6	125200313	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.713000	0.74686	2.683000	0.91414	0.563000	0.77884	GAG		0.498	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		11	31	1	0	6.40141e-05	1	6.95424e-05	11	31					T	125131132	G	T	125131132	3	4	48	1	0	0	0	0	1	0	0	0	5823	933	33	2	5491	2	FER1L6	8	125131132	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	42594	125131132	21232890	2215	6683										
RNF139	83940	broad.mit.edu	37	chr8	125499514	125499514	+	IGR	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaaagggagccgcttacaaGaaataaatgatgtatgtgca	10	5	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:125499514G>T	ENST00000276692.6	-	0	1018				RP11-158K1.3_ENST00000518639.1_RNA|RNF139_ENST00000303545.3_Nonsense_Mutation_p.E542*	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)			CCGCTTACAAGAAATAAATGA	0.373																																						ENST00000303545.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.(1624-1626)Gaa>Taa		ring finger protein 139							65	64	64					8																	125499514		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.chr8:125499514G>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.125499514G>T			Somatic					p.E542*	NM_007218.3	NP_009149.2	WXS	Illumina GAIIx	Phase_I	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	1996	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		542					B2R5J0|Q8TD02|Q9BY40	Nonsense_Mutation	SNP	ENST00000276692.6	37	c.1624G>T	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	G	38	7.252088	0.98164	.	.	ENSG00000170881	ENST00000303545	.	.	.	5.5	5.5	0.81552	.	0.109123	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-12.0735	19.7497	0.96263	0.0:0.0:1.0:0.0	.	.	.	.	X	542	.	ENSP00000304051:E542X	E	+	1	0	RNF139	125568695	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.060000	0.71141	2.729000	0.93468	0.561000	0.74099	GAA		0.373	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		14	36	1	0	1.52009e-12	1	1.92208e-12	14	36					T	125499514	G	T	125499514	1	4	48	0	1	0	0	0	0	0	0	0	13457	943	33	2		2	RNF139	8	125499514	IGR	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	368382	125499514	20864508	2216	6684										
KIAA0196	9897	broad.mit.edu	37	chr8	126056266	126056266	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttaggggactgacagcattcAtgagggtttttaaagtgtcc	12	6	1	2	rs372250277		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:126056266A>G	ENST00000318410.7	-	22	3087	c.2738T>C	c.(2737-2739)aTg>aCg	p.M913T	KIAA0196_ENST00000517845.1_Missense_Mutation_p.M765T|KIAA0196-AS1_ENST00000519140.1_RNA	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	913					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)			GACAGCATTCATGAGGGTTTT	0.413																																						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.(2737-2739)aTg>aCg		KIAA0196							91	86	87					8																	126056266		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126056266A>G		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.2738T>C	8.37:g.126056266A>G	ENSP00000318016:p.Met913Thr		Somatic				KIAA0196-AS1_ENST00000519140.1_RNA|KIAA0196_ENST00000517845.1_Missense_Mutation_p.M765T	p.M913T	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)		22	3087	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		913					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.2738T>C	CCDS6355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.171|9.171	1.021053|1.021053	0.19433|0.19433	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.85088|.	-1.94;-1.94|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.143011|.	0.64402|.	D|.	0.000002|.	T|.	0.20981|.	0.0505|.	N|N	0.01168|0.01168	-0.975|-0.975	0.49213|0.49213	D|D	0.999761|0.999761	B;B|.	0.12013|.	0.0;0.005|.	B;B|.	0.16722|.	0.0;0.016|.	T|.	0.27773|.	-1.0064|.	10|.	0.13108|.	T|.	0.6|.	-33.8136|-33.8136	11.4034|11.4034	0.49883|0.49883	0.8651:0.0:0.0:0.1348|0.8651:0.0:0.0:0.1348	.|.	765;913|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	T|R	913;765|530	ENSP00000318016:M913T;ENSP00000429676:M765T|.	ENSP00000318016:M913T|.	M|X	-|-	2|1	0|0	KIAA0196|KIAA0196	126125448|126125448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.068000|5.068000	0.64364|0.64364	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	ATG|TGA		0.413	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		12	31	0	0	0	1	0	12	31					G	126056266	A	G	126056266	3	3	48	1	0	0	0	0	1	0	0	0	8170	217	8	4	773	4	KIAA0196	8	126056266	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	556752	126056266	20307756	2217	6685										
NSMCE2	286053	broad.mit.edu	37	chr8	126194402	126194402	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aattattggtagagaagaaaTttttggctttacagagcaag	10	3	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:126194402T>A	ENST00000287437.3	+	5	538	c.322T>A	c.(322-324)Ttt>Att	p.F108I	NSMCE2_ENST00000517315.1_Missense_Mutation_p.F48I|NSMCE2_ENST00000522563.1_Missense_Mutation_p.F108I	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	108				F -> L (in Ref. 1; BAB71338). {ECO:0000305}.	cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|protein sumoylation (GO:0016925)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGAGAAGAAATTTTTGGCTTT	0.294																																						ENST00000287437.3																			0				breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9						c.(322-324)Ttt>Att		non-SMC element 2, MMS21 homolog (S. cerevisiae)							54	63	60					8																	126194402		2200	4296	6496	SO:0001583	missense	286053				DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding	g.chr8:126194402T>A	AK057002	CCDS6356.1	8q24.13	2013-01-28	2006-12-21	2006-07-05	ENSG00000156831	ENSG00000156831		"Zinc fingers, MIZ-type"	26513	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 7"		"chromosome 8 open reading frame 36", "non-SMC element 2 homolog (MMS21, S. cerevisiae)"	C8orf36		12477932	Standard	NM_173685		Approved	FLJ32440, MMS21, NSE2, ZMIZ7	uc003yrw.2	Q96MF7	OTTHUMG00000164993	ENST00000287437.3:c.322T>A	8.37:g.126194402T>A	ENSP00000287437:p.Phe108Ile		Somatic				NSMCE2_ENST00000522563.1_Missense_Mutation_p.F108I|NSMCE2_ENST00000517315.1_Missense_Mutation_p.F48I	p.F108I	NM_173685.2	NP_775956.1	WXS	Illumina GAIIx	Phase_I	Q96MF7	NSE2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		5	538	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		108	F -> L (in Ref. 1; BAB71338).				Q8N549	Missense_Mutation	SNP	ENST00000287437.3	37	c.322T>A	CCDS6356.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.093230	0.56075	.	.	ENSG00000156831	ENST00000523741;ENST00000517532;ENST00000287437;ENST00000522563;ENST00000517315	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.77	4.62	0.57501	.	0.000000	0.64402	D	0.000001	T	0.49372	0.1553	M	0.63843	1.955	0.39780	D	0.972282	P;D	0.61080	0.826;0.989	B;P	0.56088	0.292;0.791	T	0.44757	-0.9307	10	0.20046	T	0.44	.	9.5579	0.39351	0.0:0.0822:0.0:0.9178	.	108;108	Q96MF7;E5RHW9	NSE2_HUMAN;.	I	108;108;108;108;48	ENSP00000429383:F108I;ENSP00000429612:F108I;ENSP00000287437:F108I;ENSP00000430668:F108I;ENSP00000428846:F48I	ENSP00000287437:F108I	F	+	1	0	NSMCE2	126263584	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.011000	0.49567	2.330000	0.79161	0.477000	0.44152	TTT		0.294	NSMCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381378.1	NM_173685		4	72	0	0	0	1	0	4	72					A	126194402	T	A	126194402	3	1	48	1	0	0	0	0	1	0	0	0	10685	1493	52	4	332	4	NSMCE2	8	126194402	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	138136	126194402	20169620	2218	6686										
GSDMC	56169	broad.mit.edu	37	chr8	130772804	130772804	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aactcaccatcttgaaaggtTctctgttcatcatcatctga	5	11	7	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:130772804T>G	ENST00000276708.4	-	6	1589	c.708A>C	c.(706-708)agA>agC	p.R236S		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	236						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTTGAAAGGTTCTCTGTTCAT	0.373																																						ENST00000276708.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(706-708)agA>agC		gasdermin C							103	100	101					8																	130772804		2203	4300	6503	SO:0001583	missense	56169					mitochondrion		g.chr8:130772804T>G	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.708A>C	8.37:g.130772804T>G	ENSP00000276708:p.Arg236Ser		Somatic					p.R236S	NM_031415.2	NP_113603.1	WXS	Illumina GAIIx	Phase_I	Q9BYG8	GSDMC_HUMAN			6	1589	-			236					Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	c.708A>C	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	T	3.265	-0.150393	0.06585	.	.	ENSG00000147697	ENST00000276708	T	0.24908	1.83	3.91	-7.82	0.01205	.	4.434490	0.00728	N	0.000935	T	0.14700	0.0355	L	0.32530	0.975	0.09310	N	1	B	0.32010	0.351	B	0.28784	0.094	T	0.11012	-1.0605	10	0.13470	T	0.59	.	6.2073	0.20610	0.101:0.5355:0.2043:0.1593	.	236	Q9BYG8	GSDMC_HUMAN	S	236	ENSP00000276708:R236S	ENSP00000276708:R236S	R	-	3	2	GSDMC	130841986	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.142000	0.01298	-3.023000	0.00269	-1.295000	0.01343	AGA		0.373	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			8	62	0	0	0	1	0	8	62					G	130772804	T	G	130772804	3	3	48	1	0	0	0	0	1	0	0	0	6827	1780	62	4	854	4	GSDMC	8	130772804	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	4578402	130772804	15591218	2219	6687										
OC90	729330	broad.mit.edu	37	chr8	133036749	133036749	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatcttccatgaagaggcccGatccccaagggacccagtga	10	13	1	3	rs141981890	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:133036749G>A	ENST00000443356.2	-	15	1547	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	OC90_ENST00000254627.3_Silent_p.I471I|OC90_ENST00000603859.1_Silent_p.I471I|OC90_ENST00000262283.5_Silent_p.I683I			Q02509	OC90_HUMAN	otoconin 90	487					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)			GAAGAGGCCCGATCCCCAAGG	0.577													G|||	3	0.000599042	0	0	5008	,	,		19537	0.003		0	False		,,,				2504	0					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.(2047-2049)atC>atT		otoconin 90							24	27	26					8																	133036749		1934	4143	6077	SO:0001819	synonymous_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133036749G>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.1461C>T	8.37:g.133036749G>A			Somatic				OC90_ENST00000603859.1_Silent_p.I471I|OC90_ENST00000443356.2_Silent_p.I487I|OC90_ENST00000254627.3_Silent_p.I471I	p.I683I			WXS	Illumina GAIIx	Phase_I	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		18	2148	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		487					B4DNG8	Silent	SNP	ENST00000443356.2	37	c.2049C>T																																																																																					0.577	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		11	12	0	0	0	1	0	11	12					A	133036749	G	A	133036749	2	1	48	1	0	0	0	0	0	0	0	1	10823	1048	37	1		1	OC90	8	133036749	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2263945	133036749	13327273	2220	6688										
LRRC6	23639	broad.mit.edu	37	chr8	133627334	133627334	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttcgttatctttcaaagaGaagtcaattctaagaataac	5	6	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:133627334G>T	ENST00000519595.1	-	8	1022	c.924C>A	c.(922-924)ttC>ttA	p.F308L	LRRC6_ENST00000518642.1_Missense_Mutation_p.F308L|LRRC6_ENST00000250173.1_Missense_Mutation_p.F308L			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	308	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTTTCAAAGAGAAGTCAATTC	0.318																																						ENST00000519595.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34						c.(922-924)ttC>ttA		leucine rich repeat containing 6							74	77	76					8																	133627334		2202	4293	6495	SO:0001583	missense	23639					cytoplasm		g.chr8:133627334G>T	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"leucine rich testes protein"	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.924C>A	8.37:g.133627334G>T	ENSP00000429791:p.Phe308Leu		Somatic				LRRC6_ENST00000518642.1_Missense_Mutation_p.F308L|LRRC6_ENST00000250173.1_Missense_Mutation_p.F308L	p.F308L			WXS	Illumina GAIIx	Phase_I	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		8	1022	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		308			CS.		Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.924C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.67|15.67	2.902671|2.902671	0.52227|0.52227	.|.	.|.	ENSG00000129295|ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414|ENST00000519085	T;T;T|.	0.67865|.	-0.17;-0.29;-0.17|.	5.2|5.2	3.37|3.37	0.38596|0.38596	CS-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79358|0.79358	0.4432|0.4432	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72338|.	0.977|.	T|T	0.82242|0.82242	-0.0554|-0.0554	10|5	0.62326|.	D|.	0.03|.	-12.0019|-12.0019	9.6579|9.6579	0.39936|0.39936	0.1752:0.0:0.8248:0.0|0.1752:0.0:0.8248:0.0	.|.	308|.	Q86X45|.	LRRC6_HUMAN|.	L|I	308|30	ENSP00000429791:F308L;ENSP00000428610:F308L;ENSP00000250173:F308L|.	ENSP00000250173:F308L|.	F|L	-|-	3|1	2|0	LRRC6|LRRC6	133696516|133696516	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.389000|0.389000	0.30415|0.30415	2.424000|2.424000	0.44714|0.44714	1.334000|1.334000	0.45468|0.45468	0.563000|0.563000	0.77884|0.77884	TTC|CTC		0.318	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		5	44	1	0	0.000602214	1	0.000636035	5	44					T	133627334	G	T	133627334	3	4	48	1	0	0	0	0	1	0	0	0	9025	933	33	2	496	2	LRRC6	8	133627334	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	590585	133627334	12736688	2221	6689										
TG	7038	broad.mit.edu	37	chr8	133900320	133900320	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcatgctacccaccctttcCgacacctacatcccacagtg	5	18	0	0	rs141011127		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:133900320C>T	ENST00000220616.4	+	10	2308	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	TG_ENST00000377869.1_Silent_p.S756S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	756	Thyroglobulin type-1 7. {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)		CCACCCTTTCCGACACCTACA	0.587																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(2266-2268)tcC>tcT		thyroglobulin		C		0,4406		0,0,2203	86	63	71		2268	2.4	0.1	8	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TG	NM_003235.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		756/2769	133900320	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133900320C>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.2268C>T	8.37:g.133900320C>T			Somatic				TG_ENST00000377869.1_Silent_p.S756S	p.S756S	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)	10	2308	+	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)	756			Thyroglobulin type-1 7.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.2268C>T	CCDS34944.1																																																																																				0.587	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		21	34	0	0	0	1	0	21	34					T	133900320	C	T	133900320	2	4	48	1	0	0	0	0	0	0	0	1	15828	639	23	1		1	TG	8	133900320	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	272986	133900320	12463702	2222	6690										
TG	7038	broad.mit.edu	37	chr8	133961050	133961050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgtgggttgctgagctcaCccagtgtcctgctttgtaat	11	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:133961050C>T	ENST00000220616.4	+	27	5303	c.5263C>T	c.(5263-5265)Ccc>Tcc	p.P1755S	TG_ENST00000542445.1_Missense_Mutation_p.P125S|TG_ENST00000377869.1_Missense_Mutation_p.P1698S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1755					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)		GCTGAGCTCACCCAGTGTCCT	0.522																																						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.(5263-5265)Ccc>Tcc		thyroglobulin							214	192	200					8																	133961050		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133961050C>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.5263C>T	8.37:g.133961050C>T	ENSP00000220616:p.Pro1755Ser		Somatic				TG_ENST00000377869.1_Missense_Mutation_p.P1698S|TG_ENST00000542445.1_Missense_Mutation_p.P125S	p.P1755S	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)	27	5303	+	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)	1755					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.5263C>T	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.04|15.04	2.715438|2.715438	0.48622|0.48622	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445|ENST00000519178	T;T;T|.	0.76186|.	-1.0;-1.0;-1.0|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.387514|.	0.26314|.	N|.	0.025089|.	T|T	0.76033|0.76033	0.3931|0.3931	M|M	0.78637|0.78637	2.42|2.42	0.43603|0.43603	D|D	0.995967|0.995967	D;D|.	0.69078|.	0.997;0.996|.	D;P|.	0.65443|.	0.935;0.864|.	T|T	0.76107|0.76107	-0.3080|-0.3080	10|5	0.87932|.	D|.	0|.	.|.	15.4007|15.4007	0.74838|0.74838	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	125;1755|.	F5GWW5;P01266|.	.;THYG_HUMAN|.	S|I	1698;561;1755;125|210	ENSP00000367100:P1698S;ENSP00000220616:P1755S;ENSP00000441693:P125S|.	ENSP00000220616:P1755S|.	P|T	+|+	1|2	0|0	TG|TG	134030232|134030232	0.998000|0.998000	0.40836|0.40836	0.873000|0.873000	0.34254|0.34254	0.014000|0.014000	0.08584|0.08584	3.832000|3.832000	0.55783|0.55783	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	CCC|ACC		0.522	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		48	77	0	0	0	1	0	48	77					T	133961050	C	T	133961050	3	4	48	1	0	0	0	0	1	0	0	0	15828	507	18	3	5369	3	TG	8	133961050	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	60730	133961050	12402972	2223	6691										
TG	7038	broad.mit.edu	37	chr8	134031925	134031925	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtttgtatctcaatgtgttCatccctcagaatgtggtgag	10	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:134031925C>A	ENST00000220616.4	+	39	6901	c.6861C>A	c.(6859-6861)ttC>ttA	p.F2287L	TG_ENST00000542445.1_Missense_Mutation_p.F657L|TG_ENST00000377869.1_Missense_Mutation_p.F2230L|TG_ENST00000519543.1_Missense_Mutation_p.F420L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2287				F -> P (in Ref. 13; AA sequence). {ECO:0000305}.	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)		TCAATGTGTTCATCCCTCAGA	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.(6859-6861)ttC>ttA		thyroglobulin							227	180	196					8																	134031925		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134031925C>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.6861C>A	8.37:g.134031925C>A	ENSP00000220616:p.Phe2287Leu		Somatic				TG_ENST00000519543.1_Missense_Mutation_p.F420L|TG_ENST00000377869.1_Missense_Mutation_p.F2230L|TG_ENST00000542445.1_Missense_Mutation_p.F657L	p.F2287L	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)	39	6901	+	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)	2287	F -> P (in Ref. 13; AA sequence).				O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.6861C>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.90|14.90	2.672531|2.672531	0.47781|0.47781	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178;ENST00000518108	T;T;T;T|.	0.60299|.	0.2;0.2;0.2;0.2|.	4.77|4.77	2.42|2.42	0.29668|0.29668	Carboxylesterase type B, conserved site (1);Carboxylesterase, type B (1);|.	0.060691|.	0.64402|.	D|.	0.000003|.	T|T	0.67776|0.67776	0.2929|0.2929	M|M	0.86028|0.86028	2.79|2.79	0.38299|0.38299	D|D	0.942932|0.942932	D;P;D|.	0.69078|.	0.996;0.941;0.997|.	D;P;D|.	0.72625|.	0.934;0.761;0.978|.	T|T	0.67309|0.67309	-0.5703|-0.5703	10|5	0.87932|.	D|.	0|.	.|.	5.7828|5.7828	0.18316|0.18316	0.0:0.2214:0.0:0.7786|0.0:0.2214:0.0:0.7786	.|.	420;657;2287|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	L|N	2230;1093;2287;657;420|743;83	ENSP00000367100:F2230L;ENSP00000220616:F2287L;ENSP00000441693:F657L;ENSP00000430430:F420L|.	ENSP00000220616:F2287L|.	F|H	+|+	3|1	2|0	TG|TG	134101107|134101107	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.473000|0.473000	0.32948|0.32948	1.469000|1.469000	0.35343|0.35343	0.348000|0.348000	0.23949|0.23949	-0.302000|-0.302000	0.09304|0.09304	TTC|CAT		0.517	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		20	34	1	0	4.63292e-17	1	6.19965e-17	20	34					A	134031925	C	A	134031925	3	1	48	1	0	0	0	0	1	0	0	0	15828	825	29	2	7015	2	TG	8	134031925	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	70875	134031925	12332097	2224	6692										
WISP1	8840	broad.mit.edu	37	chr8	134232915	134232915	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagtacaactgcacgtgcatCgacggcgcggtgggctgcac	14	12	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:134232915C>T	ENST00000250160.6	+	3	547	c.441C>T	c.(439-441)atC>atT	p.I147I	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	147	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GCACGTGCATCGACGGCGCGG	0.662																																						ENST00000250160.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(439-441)atC>atT		WNT1 inducible signaling pathway protein 1							100	84	89					8																	134232915		2203	4300	6503	SO:0001819	synonymous_variant	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134232915C>T	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.441C>T	8.37:g.134232915C>T			Somatic				WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron	p.I147I	NM_003882.3	NP_003873.1	WXS	Illumina GAIIx	Phase_I	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		3	547	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		147			VWFC.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Silent	SNP	ENST00000250160.6	37	c.441C>T	CCDS6371.1																																																																																				0.662	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		44	89	0	0	0	1	0	44	89					T	134232915	C	T	134232915	2	4	48	1	0	0	0	0	0	0	0	1	17387	874	31	1		1	WISP1	8	134232915	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	200990	134232915	12131107	2225	6693										
NDRG1	10397	broad.mit.edu	37	chr8	134258875	134258875	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtaccttgaggagagtggtcTttgttgggtccaattttgag	14	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:134258875T>C	ENST00000414097.2	-	13	1706	c.839A>G	c.(838-840)aAg>aGg	p.K280R	NDRG1_ENST00000518176.1_Missense_Mutation_p.K27R|NDRG1_ENST00000537882.1_Missense_Mutation_p.K199R|NDRG1_ENST00000522476.1_Missense_Mutation_p.K214R|NDRG1_ENST00000354944.5_Missense_Mutation_p.K210R|NDRG1_ENST00000521414.1_5'UTR|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000323851.7_Missense_Mutation_p.K280R	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	280					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GAGAGTGGTCTTTGTTGGGTC	0.443			T	ERG	prostate																																	ENST00000414097.2				Dom	yes		8	8q24.3	10397	T	N-myc downstream regulated 1			E	ERG		prostate	NDRG1/ERG(5)	0				endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17						c.(838-840)aAg>aGg		N-myc downstream regulated 1							161	148	153					8																	134258875		2203	4300	6503	SO:0001583	missense	10397				cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding	g.chr8:134258875T>C	X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.839A>G	8.37:g.134258875T>C	ENSP00000404854:p.Lys280Arg		Somatic				NDRG1_ENST00000518176.1_Missense_Mutation_p.K27R|NDRG1_ENST00000354944.5_Missense_Mutation_p.K210R|NDRG1_ENST00000323851.7_Missense_Mutation_p.K280R|NDRG1_ENST00000522476.1_Missense_Mutation_p.K214R|NDRG1_ENST00000537882.1_Missense_Mutation_p.K199R|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000521414.1_5'UTR	p.K280R	NM_001135242.1	NP_001128714.1	WXS	Illumina GAIIx	Phase_I	Q92597	NDRG1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		13	1706	-	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		280					B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	ENST00000414097.2	37	c.839A>G	CCDS34945.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942249	0.53079	.	.	ENSG00000104419	ENST00000323851;ENST00000354944;ENST00000414097;ENST00000537882;ENST00000518176;ENST00000535532;ENST00000522476	T;T;T;T;T;T	0.29397	1.57;2.25;1.57;2.25;2.25;2.25	5.44	5.44	0.79542	.	0.044268	0.85682	D	0.000000	T	0.27134	0.0665	L	0.43152	1.355	0.51767	D	0.999935	B;B	0.23442	0.029;0.085	B;B	0.31686	0.053;0.134	T	0.08889	-1.0700	10	0.25751	T	0.34	-38.353	9.128	0.36828	0.0:0.0897:0.0:0.9103	.	27;280	E7ESM1;Q92597	.;NDRG1_HUMAN	R	280;210;280;199;27;108;214	ENSP00000319977:K280R;ENSP00000347028:K210R;ENSP00000404854:K280R;ENSP00000437443:K199R;ENSP00000429007:K27R;ENSP00000427894:K214R	ENSP00000319977:K280R	K	-	2	0	NDRG1	134328057	1.000000	0.71417	0.988000	0.46212	0.946000	0.59487	5.743000	0.68655	2.069000	0.61940	0.528000	0.53228	AAG		0.443	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1			5	85	0	0	0	1	0	5	85					C	134258875	T	C	134258875	3	2	48	1	0	0	0	0	1	0	0	0	10260	1609	56	4	361	4	NDRG1	8	134258875	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	25960	134258875	12105147	2226	6694										
FAM135B	51059	broad.mit.edu	37	chr8	139153578	139153578	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggatgatgatgttgccaagaGaatggccaatgaagctgtgg	15	5	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139153578G>T	ENST00000395297.1	-	17	3823	c.3653C>A	c.(3652-3654)tCt>tAt	p.S1218Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1218										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)			GTTGCCAAGAGAATGGCCAAT	0.552										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.(3652-3654)tCt>tAt		family with sequence similarity 135, member B							164	170	168					8																	139153578		2100	4223	6323	SO:0001583	missense	51059							g.chr8:139153578G>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.3653C>A	8.37:g.139153578G>T	ENSP00000378710:p.Ser1218Tyr	HNSCC(54;0.14)	Somatic					p.S1218Y	NM_015912.3	NP_056996.2	WXS	Illumina GAIIx	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		17	3823	-	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)		1218					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3653C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025382	0.93518	.	.	ENSG00000147724	ENST00000395297	T	0.78595	-1.19	5.83	5.83	0.93111	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	D	0.92394	0.7586	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94154	0.7408	10	0.87932	D	0	-17.1119	19.1034	0.93283	0.0:0.0:1.0:0.0	.	1218	Q49AJ0	F135B_HUMAN	Y	1218	ENSP00000378710:S1218Y	ENSP00000378710:S1218Y	S	-	2	0	FAM135B	139222760	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	9.869000	0.99810	2.750000	0.94351	0.655000	0.94253	TCT		0.552	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		36	63	1	0	6.84511e-11	1	8.46308e-11	36	63					T	139153578	G	T	139153578	3	4	48	1	0	0	0	0	1	0	0	0	5454	942	33	2	583	2	FAM135B	8	139153578	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4894703	139153578	7210444	2227	6695										
FAM135B	51059	broad.mit.edu	37	chr8	139160910	139160910	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttcagttcttttttaaattTttctttggcctgataaaaac	4	7	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139160910T>G	ENST00000395297.1	-	14	3471	c.3301A>C	c.(3301-3303)Aaa>Caa	p.K1101Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1101										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)			TTTTTAAATTTTTCTTTGGCC	0.368										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.(3301-3303)Aaa>Caa		family with sequence similarity 135, member B							39	39	39					8																	139160910		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139160910T>G	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.3301A>C	8.37:g.139160910T>G	ENSP00000378710:p.Lys1101Gln	HNSCC(54;0.14)	Somatic					p.K1101Q	NM_015912.3	NP_056996.2	WXS	Illumina GAIIx	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		14	3471	-	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)		1101					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3301A>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	21.2	4.112839	0.77210	.	.	ENSG00000147724	ENST00000395297	T	0.15603	2.41	5.78	5.78	0.91487	.	0.052775	0.85682	D	0.000000	T	0.39860	0.1094	M	0.64997	1.995	0.43846	D	0.996439	D;P	0.76494	0.999;0.933	D;P	0.76575	0.988;0.462	T	0.11941	-1.0567	10	0.54805	T	0.06	-16.9339	15.2978	0.73922	0.0:0.0:0.0:1.0	.	1101;1101	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	Q	1101	ENSP00000378710:K1101Q	ENSP00000378710:K1101Q	K	-	1	0	FAM135B	139230092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.789000	0.69029	2.204000	0.70986	0.528000	0.53228	AAA		0.368	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		5	22	0	0	0	1	0	5	22					G	139160910	T	G	139160910	3	3	48	1	0	0	0	0	1	0	0	0	5454	1850	64	4	947	4	FAM135B	8	139160910	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	7332	139160910	7203112	2228	6696										
FAM135B	51059	broad.mit.edu	37	chr8	139164359	139164359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccatcttgctgcttggtgtCcgcatcttcagcagcctcct	8	15	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139164359C>T	ENST00000395297.1	-	13	2529	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	787								p.D787Y(2)|p.D787N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGCTTGGTGTCCGCATCTTCA	0.522										HNSCC(54;0.14)																												ENST00000395297.1																			4	Substitution - Missense(4)	p.D787Y(2)|p.D787N(2)	breast(2)|kidney(2)	NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2359-2361)Gac>Aac		family with sequence similarity 135, member B							48	48	48					8																	139164359		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139164359C>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.2359G>A	8.37:g.139164359C>T	ENSP00000378710:p.Asp787Asn	HNSCC(54;0.14)	Somatic					p.D787N	NM_015912.3	NP_056996.2	WXS	Illumina GAIIx	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2529	-	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)		787					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2359G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620096	0.46736	.	.	ENSG00000147724	ENST00000395297	T	0.15372	2.43	5.43	5.43	0.79202	.	0.751873	0.13391	N	0.391387	T	0.27524	0.0676	L	0.34521	1.04	0.09310	N	1	D;D;P	0.57257	0.979;0.979;0.455	P;P;B	0.56563	0.801;0.714;0.193	T	0.12192	-1.0557	10	0.38643	T	0.18	-7.1553	16.4153	0.83731	0.0:1.0:0.0:0.0	.	787;787;787	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	N	787	ENSP00000378710:D787N	ENSP00000276737:D787N	D	-	1	0	FAM135B	139233541	0.031000	0.19500	0.005000	0.12908	0.001000	0.01503	2.627000	0.46469	2.557000	0.86248	0.655000	0.94253	GAC		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		28	42	0	0	0	1	0	28	42					T	139164359	C	T	139164359	3	4	48	1	0	0	0	0	1	0	0	0	5454	855	30	3	1893	3	FAM135B	8	139164359	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3449	139164359	7199663	2229	6697										
FAM135B	51059	broad.mit.edu	37	chr8	139164633	139164633	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttcgggcctctgaccaggcGacggagcttggctcactctc	12	15	3	1	rs183117074	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139164633G>A	ENST00000395297.1	-	13	2255	c.2085C>T	c.(2083-2085)gtC>gtT	p.V695V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	695										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)			CTGACCAGGCGACGGAGCTTG	0.552										HNSCC(54;0.14)			G|||	2	0.000399361	8e-04	0	5008	,	,		17617	0		0	False		,,,				2504	0.001					ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2083-2085)gtC>gtT		family with sequence similarity 135, member B		G		1,3859		0,1,1929	52	53	52		2085	-11.3	0.1	8		52	0,8232		0,0,4116	no	coding-synonymous	FAM135B	NM_015912.3		0,1,6045	AA,AG,GG		0.0,0.0259,0.0083		695/1407	139164633	1,12091	1930	4116	6046	SO:0001819	synonymous_variant	51059							g.chr8:139164633G>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.2085C>T	8.37:g.139164633G>A		HNSCC(54;0.14)	Somatic					p.V695V	NM_015912.3	NP_056996.2	WXS	Illumina GAIIx	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2255	-	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)		695					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.2085C>T	CCDS6375.2																																																																																				0.552	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		24	41	0	0	0	1	0	24	41					A	139164633	G	A	139164633	2	1	48	1	0	0	0	0	0	0	0	1	5454	1045	37	1		1	FAM135B	8	139164633	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	274	139164633	7199389	2230	6698										
FAM135B	51059	broad.mit.edu	37	chr8	139164903	139164903	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagttgttttgtctgaagaGatggcattttggtggcttcc	13	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139164903G>T	ENST00000395297.1	-	13	1985	c.1815C>A	c.(1813-1815)atC>atA	p.I605I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	605										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)			TGTCTGAAGAGATGGCATTTT	0.453										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.(1813-1815)atC>atA		family with sequence similarity 135, member B							175	168	170					8																	139164903		1903	4132	6035	SO:0001819	synonymous_variant	51059							g.chr8:139164903G>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.1815C>A	8.37:g.139164903G>T		HNSCC(54;0.14)	Somatic					p.I605I	NM_015912.3	NP_056996.2	WXS	Illumina GAIIx	Phase_I	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1985	-	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)		605					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.1815C>A	CCDS6375.2																																																																																				0.453	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		5	131	1	0	0.014758	1	0.015099	5	131					T	139164903	G	T	139164903	2	4	48	1	0	0	0	0	0	0	0	1	5454	932	33	2		2	FAM135B	8	139164903	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	270	139164903	7199119	2231	6699										
COL22A1	169044	broad.mit.edu	37	chr8	139620199	139620199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggggttcctgaagggccagGctctcctggagatcccggtg	16	11	1	2	rs149644599		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139620199G>A	ENST00000303045.6	-	57	4458	c.4012C>T	c.(4012-4014)Cct>Tct	p.P1338S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1318S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1338	Collagen-like 13.|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)			GAAGGGCCAGGCTCTCCTGGA	0.527										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.(4012-4014)Cct>Tct		collagen, type XXII, alpha 1							101	98	99					8																	139620199		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139620199G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4012C>T	8.37:g.139620199G>A	ENSP00000303153:p.Pro1338Ser	HNSCC(7;0.00092)	Somatic				COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1318S	p.P1338S	NM_152888.1	NP_690848.1	WXS	Illumina GAIIx	Phase_I	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		57	4458	-	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)		1338			Collagen-like 13.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4012C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301611	0.40694	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96011	-3.88;-3.88	5.57	3.76	0.43208	.	0.130327	0.34853	N	0.003639	D	0.92932	0.7751	M	0.72479	2.2	0.38921	D	0.957736	B;B	0.27882	0.192;0.013	B;B	0.15052	0.007;0.012	D	0.89592	0.3828	10	0.40728	T	0.16	.	9.46	0.38778	0.0739:0.0:0.7822:0.1439	.	1318;1338	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1338;1318;1031	ENSP00000303153:P1338S;ENSP00000387655:P1318S	ENSP00000303153:P1338S	P	-	1	0	COL22A1	139689381	1.000000	0.71417	0.993000	0.49108	0.729000	0.41735	0.798000	0.27014	0.691000	0.31592	0.563000	0.77884	CCT		0.527	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		10	34	0	0	0	1	0	10	34					A	139620199	G	A	139620199	3	1	48	1	0	0	0	0	1	0	0	0	3683	1203	42	3	904	3	COL22A1	8	139620199	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	455296	139620199	6743823	2232	6700										
COL22A1	169044	broad.mit.edu	37	chr8	139845316	139845316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacagggaaggatcccatccGtacataggaactctgagctc	10	12	1	1	rs141938188	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139845316G>A	ENST00000303045.6	-	5	1257	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R271W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	271	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(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)			GATCCCATCCGTACATAGGAA	0.507										HNSCC(7;0.00092)			G|||	2	0.000399361	8e-04	0	5008	,	,		18804	0.001		0	False		,,,				2504	0					ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(811-813)Cgg>Tgg		collagen, type XXII, alpha 1		G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	147	118	128		811	5.1	1	8	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	yes	missense	COL22A1	NM_152888.1	101	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	probably-damaging	271/1627	139845316	4,13002	2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139845316G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.811C>T	8.37:g.139845316G>A	ENSP00000303153:p.Arg271Trp	HNSCC(7;0.00092)	Somatic				COL22A1_ENST00000435777.1_Missense_Mutation_p.R271W	p.R271W	NM_152888.1	NP_690848.1	WXS	Illumina GAIIx	Phase_I	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		5	1257	-	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)		271			TSP N-terminal.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.811C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597780	0.87055	6.81E-4	1.16E-4	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.41758	0.99;0.99	5.05	5.05	0.67936	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.45126	D	0.000398	T	0.65365	0.2684	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66184	-0.5987	9	.	.	.	.	17.3965	0.87446	0.0:0.0:1.0:0.0	.	271	Q8NFW1	COMA1_HUMAN	W	271	ENSP00000303153:R271W;ENSP00000387655:R271W	.	R	-	1	2	COL22A1	139914498	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.546000	0.73887	2.523000	0.85059	0.650000	0.86243	CGG		0.507	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		20	44	0	0	0	1	0	20	44					A	139845316	G	A	139845316	3	1	48	1	0	0	0	0	1	0	0	0	3683	1144	40	1	4313	1	COL22A1	8	139845316	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	225117	139845316	6518706	2233	6701										
TRAPPC9	83696	broad.mit.edu	37	chr8	140922403	140922403	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggatatgattctccagcaGatgcccagcttgctgtggat	11	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:140922403G>A	ENST00000438773.2	-	20	3085	c.2952C>T	c.(2950-2952)atC>atT	p.I984I	TRAPPC9_ENST00000389328.4_Silent_p.I1082I|TRAPPC9_ENST00000389327.3_Silent_p.I975I|TRAPPC9_ENST00000522504.1_5'Flank|RP11-284H18.1_ENST00000518354.1_RNA	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	984					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TTCTCCAGCAGATGCCCAGCT	0.602																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(3244-3246)atC>atT		trafficking protein particle complex 9							62	69	67					8																	140922403		2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:140922403G>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2952C>T	8.37:g.140922403G>A			Somatic				TRAPPC9_ENST00000389327.3_Silent_p.I975I|TRAPPC9_ENST00000438773.2_Silent_p.I984I	p.I1082I	NM_031466.5	NP_113654.4	WXS	Illumina GAIIx	Phase_I	Q96Q05	TPPC9_HUMAN			20	3260	-			984					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.3246C>T	CCDS55278.1																																																																																				0.602	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		34	59	0	0	0	1	0	34	59					A	140922403	G	A	140922403	2	1	48	1	0	0	0	0	0	0	0	1	16480	932	33	3		3	TRAPPC9	8	140922403	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1077087	140922403	5441619	2234	6702										
EIF2C2	27161	broad.mit.edu	37	chr8	141545600	141545600	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgactacacaggtagaagtcGaactcggtggggtgggtgat	16	6	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:141545600G>A	ENST00000220592.5	-	17	2350	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	AGO2_ENST00000519980.1_Intron	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	746	Piwi. {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)										GGTAGAAGTCGAACTCGGTGG	0.562																																						ENST00000220592.5																			0											c.(2236-2238)ttC>ttT		argonaute RISC catalytic component 2							264	197	220					8																	141545600		2203	4300	6503	SO:0001819	synonymous_variant	27161							g.chr8:141545600G>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.2238C>T	8.37:g.141545600G>A			Somatic				AGO2_ENST00000519980.1_Intron	p.F746F	NM_012154.3	NP_036286.2	WXS	Illumina GAIIx	Phase_I					17	2350	-								Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	c.2238C>T	CCDS6380.1																																																																																				0.562	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			7	88	0	0	0	1	0	7	88					A	141545600	G	A	141545600	2	1	48	1	0	0	0	0	0	0	0	1	5008	1049	37	1		1	EIF2C2	8	141545600	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	623197	141545600	4818422	2235	6703										
DENND3	22898	broad.mit.edu	37	chr8	142154302	142154302	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagtggacagtcatataaaaGatttcgctgcgaagctgtct	10	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:142154302G>T	ENST00000262585.2	+	5	717	c.439G>T	c.(439-441)Gat>Tat	p.D147Y	DENND3_ENST00000519811.1_Missense_Mutation_p.D227Y|DENND3_ENST00000424248.1_Missense_Mutation_p.D147Y	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	147	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				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)			TCATATAAAAGATTTCGCTGC	0.373																																						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.(679-681)Gat>Tat		DENN/MADD domain containing 3							94	95	95					8																	142154302		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142154302G>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.439G>T	8.37:g.142154302G>T	ENSP00000262585:p.Asp147Tyr		Somatic				DENND3_ENST00000424248.1_Missense_Mutation_p.D147Y|DENND3_ENST00000262585.2_Missense_Mutation_p.D147Y	p.D227Y			WXS	Illumina GAIIx	Phase_I	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		5	749	+	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)		147			DENN.		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.679G>T	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.30|15.30	2.793891|2.793891	0.50102|0.50102	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811;ENST00000523058|ENST00000518668	T;T;T;T|.	0.11930|.	2.73;2.73;2.73;2.73|.	4.69|4.69	4.69|4.69	0.59074|0.59074	DENN (3);|.	0.265867|.	0.41605|.	D|.	0.000842|.	T|T	0.55657|0.55657	0.1934|0.1934	N|N	0.25647|0.25647	0.755|0.755	0.50171|0.50171	D|D	0.999852|0.999852	D;D|.	0.67145|.	0.996;0.996|.	D;P|.	0.66196|.	0.942;0.879|.	T|T	0.52132|0.52132	-0.8616|-0.8616	10|5	0.46703|.	T|.	0.11|.	-3.901|-3.901	17.973|17.973	0.89119|0.89119	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	227;147|.	E9PF32;A2RUS2|.	.;DEND3_HUMAN|.	Y|I	147;147;227;227|203	ENSP00000262585:D147Y;ENSP00000410594:D147Y;ENSP00000428714:D227Y;ENSP00000430786:D227Y|.	ENSP00000262585:D147Y|.	D|R	+|+	1|2	0|0	DENND3|DENND3	142223484|142223484	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.036000|0.036000	0.12997|0.12997	8.024000|8.024000	0.88770|0.88770	2.322000|2.322000	0.78497|0.78497	0.561000|0.561000	0.74099|0.74099	GAT|AGA		0.373	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		5	21	1	0	0.014758	1	0.015099	5	21					T	142154302	G	T	142154302	3	4	48	1	0	0	0	0	1	0	0	0	4434	942	33	2	453	2	DENND3	8	142154302	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	608702	142154302	4209720	2236	6704										
DENND3	22898	broad.mit.edu	37	chr8	142186774	142186774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtccaagaaagaagtcttcGaagccaacctgaaaaccgag	9	11	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:142186774G>A	ENST00000262585.2	+	15	2658	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K	DENND3_ENST00000519811.1_Missense_Mutation_p.E874K|DENND3_ENST00000424248.1_Missense_Mutation_p.E742K	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	794					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)			AGAAGTCTTCGAAGCCAACCT	0.512																																						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.(2620-2622)Gaa>Aaa		DENN/MADD domain containing 3							117	104	109					8																	142186774		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142186774G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2380G>A	8.37:g.142186774G>A	ENSP00000262585:p.Glu794Lys		Somatic				DENND3_ENST00000424248.1_Missense_Mutation_p.E742K|DENND3_ENST00000262585.2_Missense_Mutation_p.E794K	p.E874K			WXS	Illumina GAIIx	Phase_I	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		15	2690	+	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)		794					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.2620G>A	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.470881|5.470881	0.96274|0.96274	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811|ENST00000518668	T;T;T|.	0.15603|.	2.85;2.41;2.84|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77046|0.77046	0.4073|0.4073	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.996;0.998|.	T|T	0.76586|0.76586	-0.2905|-0.2905	10|5	0.72032|.	D|.	0.01|.	-33.1944|-33.1944	19.1238|19.1238	0.93374|0.93374	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	874;794|.	E9PF32;A2RUS2|.	.;DEND3_HUMAN|.	K|Q	794;742;874|798	ENSP00000262585:E794K;ENSP00000410594:E742K;ENSP00000428714:E874K|.	ENSP00000262585:E794K|.	E|R	+|+	1|2	0|0	DENND3|DENND3	142255956|142255956	1.000000|1.000000	0.71417|0.71417	0.535000|0.535000	0.28026|0.28026	0.897000|0.897000	0.52465|0.52465	9.149000|9.149000	0.94659|0.94659	2.493000|2.493000	0.84123|0.84123	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.512	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		30	54	0	0	0	1	0	30	54					A	142186774	G	A	142186774	3	1	48	1	0	0	0	0	1	0	0	0	4434	1059	37	1	2434	1	DENND3	8	142186774	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	32472	142186774	4177248	2237	6705										
BAI1	575	broad.mit.edu	37	chr8	143570434	143570434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtttgtggtgggcaccgtgCtctacaggaacctgggcagc	15	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:143570434C>T	ENST00000517894.1	+	15	3385	c.2491C>T	c.(2491-2493)Ctc>Ttc	p.L831F	BAI1_ENST00000323289.5_Missense_Mutation_p.L831F			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	831					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)					GGGCACCGTGCTCTACAGGAA	0.672																																						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.(2491-2493)Ctc>Ttc		brain-specific angiogenesis inhibitor 1							44	45	45					8																	143570434		1985	4142	6127	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.chr8:143570434C>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.2491C>T	8.37:g.143570434C>T	ENSP00000430945:p.Leu831Phe		Somatic				BAI1_ENST00000323289.5_Missense_Mutation_p.L831F	p.L831F			WXS	Illumina GAIIx	Phase_I	O14514	BAI1_HUMAN			15	3385	+	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)		831						Missense_Mutation	SNP	ENST00000517894.1	37	c.2491C>T		.	.	.	.	.	.	.	.	.	.	C	25.1	4.604751	0.87157	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.13089	2.62;2.62	4.94	4.94	0.65067	.	0.000000	0.64402	U	0.000015	T	0.34279	0.0892	L	0.59436	1.845	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.04522	-1.0945	10	0.66056	D	0.02	.	15.6436	0.77029	0.0:1.0:0.0:0.0	.	831	E9PBK0	.	F	831	ENSP00000430945:L831F;ENSP00000313046:L831F	ENSP00000313046:L831F	L	+	1	0	BAI1	143567436	1.000000	0.71417	0.918000	0.36340	0.932000	0.56968	2.574000	0.46016	2.269000	0.75478	0.462000	0.41574	CTC		0.672	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		5	15	0	0	0	1	0	5	15					T	143570434	C	T	143570434	3	4	48	1	0	0	0	0	1	0	0	0	1298	797	28	3	2545	3	BAI1	8	143570434	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1383660	143570434	2793588	2238	6706										
CYP11B1	1584	broad.mit.edu	37	chr8	143957711	143957711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggccttgatggcatctggCgacagttccgcattcaacag	11	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:143957711C>T	ENST00000292427.4	-	5	932	c.900G>A	c.(898-900)tcG>tcA	p.S300S	CYP11B1_ENST00000377675.3_Silent_p.S371S|CYP11B1_ENST00000517471.1_Silent_p.S300S	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	300					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)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-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)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TGGCATCTGGCGACAGTTCCG	0.582									Familial Hyperaldosteronism type I																													ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(898-900)tcG>tcA		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						132	111	118					8																	143957711		2203	4300	6503	SO:0001819	synonymous_variant	0	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|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143957711C>T	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.900G>A	8.37:g.143957711C>T			Somatic				CYP11B1_ENST00000377675.3_Silent_p.S371S|CYP11B1_ENST00000517471.1_Silent_p.S300S	p.S300S	NM_000497.3	NP_000488.3	WXS	Illumina GAIIx	Phase_I	P15538	C11B1_HUMAN			5	932	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-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)		300					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	c.900G>A	CCDS6392.1																																																																																				0.582	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			12	35	0	0	0	1	0	12	35					T	143957711	C	T	143957711	2	4	48	1	0	0	0	0	0	0	0	1	4147	755	27	1		1	CYP11B1	8	143957711	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	387277	143957711	2406311	2239	6707										
FAM83H	286077	broad.mit.edu	37	chr8	144808233	144808233	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaagacctcgaagcggctgTacacgcgcttctccttgcgc	11	14	1	2	rs370499410		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:144808233T>C	ENST00000388913.3	-	5	3523	c.3398A>G	c.(3397-3399)tAc>tGc	p.Y1133C		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1133					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)			GAAGCGGCTGTACACGCGCTT	0.701																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(3397-3399)tAc>tGc		family with sequence similarity 83, member H			CYS/TYR	0,4092		0,0,2046	18	21	20		3398	2.5	1	8		20	1,8343		0,1,4171	no	missense	FAM83H	NM_198488.3	194	0,1,6217	CC,CT,TT		0.012,0.0,0.0080	probably-damaging	1133/1180	144808233	1,12435	2046	4172	6218	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808233T>C	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3398A>G	8.37:g.144808233T>C	ENSP00000373565:p.Tyr1133Cys		Somatic					p.Y1133C	NM_198488.3	NP_940890.3	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	3523	-	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)		1133					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.3398A>G	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	t	18.32	3.597478	0.66332	0.0	1.2E-4	ENSG00000180921	ENST00000388913	T	0.51071	0.72	4.96	2.54	0.30619	.	0.000000	0.44285	U	0.000468	T	0.32675	0.0837	L	0.34521	1.04	0.37329	D	0.909905	P	0.38992	0.653	B	0.34652	0.187	T	0.25467	-1.0131	10	0.72032	D	0.01	.	8.6592	0.34081	0.0:0.1592:0.0:0.8408	.	1133	Q6ZRV2	FA83H_HUMAN	C	1133	ENSP00000373565:Y1133C	ENSP00000373565:Y1133C	Y	-	2	0	FAM83H	144880221	1.000000	0.71417	0.987000	0.45799	0.973000	0.67179	7.897000	0.87356	0.248000	0.21435	0.454000	0.30748	TAC		0.701	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		12	26	0	0	0	1	0	12	26					C	144808233	T	C	144808233	3	2	48	1	0	0	0	0	1	0	0	0	5648	1638	57	4	145	4	FAM83H	8	144808233	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	850522	144808233	1555789	2240	6708										
EPPK1	83481	broad.mit.edu	37	chr8	144941131	144941131	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccagggcccttctcgtctcGtcatcgatgtgctcggagtc	11	14	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:144941131G>C	ENST00000525985.1	-	2	6362	c.6291C>G	c.(6289-6291)gaC>gaG	p.D2097E				P58107	EPIPL_HUMAN	epiplakin 1	2097						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)			TTCTCGTCTCGTCATCGATGT	0.587																																						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.(6289-6291)gaC>gaG		epiplakin 1							102	111	108					8																	144941131		2154	4247	6401	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941131G>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.6291C>G	8.37:g.144941131G>C	ENSP00000436337:p.Asp2097Glu		Somatic					p.D2097E			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	6362	-	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)		2097					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6291C>G		.	.	.	.	.	.	.	.	.	.	G	2.341	-0.351150	0.05173	.	.	ENSG00000227184	ENST00000525985	T	0.63096	-0.02	4.71	-0.435	0.12279	.	.	.	.	.	T	0.17916	0.0430	N	0.00471	-1.455	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34428	-0.9829	9	0.02654	T	1	.	0.307	0.00282	0.3069:0.2911:0.1555:0.2466	.	2097	E9PPU0	.	E	2097	ENSP00000436337:D2097E	ENSP00000436337:D2097E	D	-	3	2	EPPK1	145013119	0.001000	0.12720	0.018000	0.16275	0.001000	0.01503	0.017000	0.13399	0.223000	0.20920	-1.503000	0.00956	GAC		0.587	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		12	139	0	0	0	1	0	12	139					C	144941131	G	C	144941131	3	2	48	1	0	0	0	0	1	0	0	0	5192	1136	40	5	975	5	EPPK1	8	144941131	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	132898	144941131	1422891	2241	6709										
PLEC	5339	broad.mit.edu	37	chr8	144994413	144994413	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caccgctgctggagctcgccGtaggtggccggctcccctgt	14	16	0	0	rs201460864		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:144994413G>T	ENST00000322810.4	-	32	10156	c.9987C>A	c.(9985-9987)taC>taA	p.Y3329*	PLEC_ENST00000357649.2_Nonsense_Mutation_p.Y3196*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Y3192*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Y3160*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Y3215*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Y3192*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Y3178*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Y3219*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Y3170*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3329	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						GGAGCTCGCCGTAGGTGGCCG	0.706																																						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.(9985-9987)taC>taA		plectin							7	9	8					8																	144994413		1930	4078	6008	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144994413G>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9987C>A	8.37:g.144994413G>T	ENSP00000323856:p.Tyr3329*		Somatic				PLEC_ENST00000354589.3_Nonsense_Mutation_p.Y3192*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Y3170*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Y3196*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Y3219*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Y3215*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Y3178*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Y3160*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Y3192*	p.Y3329*	NM_201380.2	NP_958782.1	WXS	Illumina GAIIx	Phase_I	Q15149	PLEC_HUMAN			32	10156	-			3329			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.9987C>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	50	16.387205	0.99862	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.01	-6.13	0.02118	.	0.000000	0.56097	U	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0819	0.36556	0.7408:0.0:0.1482:0.111	.	.	.	.	X	3192;3196;3192;3160;3329;3170;3178;3219;3215	.	ENSP00000323856:Y3329X	Y	-	3	2	PLEC	145066401	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.734000	0.04893	-1.382000	0.02109	-0.515000	0.04445	TAC		0.706	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		8	17	1	0	0.000274275	1	0.000292037	8	17					T	144994413	G	T	144994413	4	4	48	1	0	0	0	0	0	1	0	0	12061	1140	40	5	4071	5	PLEC	8	144994413	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	53282	144994413	1369609	2242	6710										
DGAT1	8694	broad.mit.edu	37	chr8	145541355	145541355	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgaagggcttcatggagttCtggatggtggggaccatcca	15	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:145541355C>A	ENST00000332324.4	-	11	1188	c.915G>T	c.(913-915)caG>caT	p.Q305H	GS1-393G12.12_ENST00000525023.1_RNA|DGAT1_ENST00000527438.1_5'Flank	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	305					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TCATGGAGTTCTGGATGGTGG	0.602																																						ENST00000332324.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(913-915)caG>caT		diacylglycerol O-acyltransferase 1							82	76	78					8																	145541355		2203	4296	6499	SO:0001583	missense	8694				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr8:145541355C>A	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"diacylglycerol O-acyltransferase homolog 1 (mouse)"			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.915G>T	8.37:g.145541355C>A	ENSP00000332258:p.Gln305His		Somatic					p.Q305H	NM_012079.4	NP_036211.2	WXS	Illumina GAIIx	Phase_I	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		11	1188	-	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)		305					B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	ENST00000332324.4	37	c.915G>T	CCDS6420.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.791057	0.50102	.	.	ENSG00000185000	ENST00000332324	T	0.72725	-0.68	5.17	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	L	0.43152	1.355	0.80722	D	1	B	0.29212	0.237	B	0.33254	0.16	T	0.65191	-0.6228	10	0.54805	T	0.06	-9.7976	10.7321	0.46102	0.0:0.9068:0.0:0.0932	.	305	O75907	DGAT1_HUMAN	H	305	ENSP00000332258:Q305H	ENSP00000332258:Q305H	Q	-	3	2	DGAT1	145512163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.279000	0.33191	2.418000	0.82041	0.555000	0.69702	CAG		0.602	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079		37	68	1	0	2.32173e-10	1	2.84673e-10	37	68					A	145541355	C	A	145541355	3	1	48	1	0	0	0	0	1	0	0	0	4459	912	32	2	579	2	DGAT1	8	145541355	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	546942	145541355	822667	2243	6711										
C8orf33	65265	broad.mit.edu	37	chr8	146279537	146279537	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagagtttaggttcaatttCttttagcgtctccccgaacc	8	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:146279537C>A	ENST00000331434.6	+	5	798	c.684C>A	c.(682-684)ttC>ttA	p.F228L		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	228										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	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;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		GGTTCAATTTCTTTTAGCGTC	0.512																																						ENST00000331434.6																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(682-684)ttC>ttA		chromosome 8 open reading frame 33							157	153	154					8																	146279537		2203	4300	6503	SO:0001583	missense	65265							g.chr8:146279537C>A		CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.684C>A	8.37:g.146279537C>A	ENSP00000330361:p.Phe228Leu		Somatic					p.F228L	NM_023080.2	NP_075568.1	WXS	Illumina GAIIx	Phase_I	Q9H7E9	CH033_HUMAN	Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)	5	798	+	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)		228					A6NGC0|Q96BT8	Missense_Mutation	SNP	ENST00000331434.6	37	c.684C>A	CCDS34974.1	.	.	.	.	.	.	.	.	.	.	.	18.27	3.586862	0.66105	.	.	ENSG00000182307	ENST00000331434	.	.	.	3.45	2.57	0.30868	.	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	L	0.34521	1.04	0.43593	D	0.995949	D	0.67145	0.996	D	0.73380	0.98	T	0.49960	-0.8883	8	.	.	.	-14.887	6.6732	0.23080	0.0:0.8683:0.0:0.1317	.	228	Q9H7E9	CH033_HUMAN	L	228	.	.	F	+	3	2	C8orf33	146250341	0.987000	0.35691	1.000000	0.80357	0.794000	0.44872	-0.205000	0.09411	1.036000	0.39998	0.655000	0.94253	TTC		0.512	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1	NM_023080		55	114	1	0	1.27862e-28	1	1.81741e-28	55	114					A	146279537	C	A	146279537	3	1	48	1	0	0	0	0	1	0	0	0	2423	912	32	2	702	2	C8orf33	8	146279537	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	738182	146279537	84485	2244	6712										
DMRT2	10655	broad.mit.edu	37	chr9	1056315	1056315	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagaagagcctttgctgataAagagttggagaacattatgc	11	5	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:1056315A>C	ENST00000358146.2	+	3	728	c.728A>C	c.(727-729)aAa>aCa	p.K243T	DMRT2_ENST00000302441.6_Missense_Mutation_p.K243T|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000382251.3_Missense_Mutation_p.K243T			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	243					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)		TTTGCTGATAAAGAGTTGGAG	0.493																																						ENST00000382251.3																			0				large_intestine(1)|lung(1)|prostate(2)	4						c.(727-729)aAa>aCa		doublesex and mab-3 related transcription factor 2							108	113	111					9																	1056315		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.chr9:1056315A>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.728A>C	9.37:g.1056315A>C	ENSP00000350865:p.Lys243Thr		Somatic				DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.K243T|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.K243T	p.K243T			WXS	Illumina GAIIx	Phase_I	Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	5	1057	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	243					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.728A>C	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.722716	0.68959	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.34275	1.37;1.37;1.37	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.58552	0.2130	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.58668	-0.7596	10	0.45353	T	0.12	-20.555	15.4035	0.74861	1.0:0.0:0.0:0.0	.	243;87	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	T	243	ENSP00000371686:K243T;ENSP00000305785:K243T;ENSP00000350865:K243T	ENSP00000305785:K243T	K	+	2	0	DMRT2	1046315	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.339000	0.96797	2.129000	0.65627	0.477000	0.44152	AAA		0.493	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		38	73	0	0	0	1	0	38	73					C	1056315	A	C	1056315	3	2	48	1	0	0	0	0	1	0	0	0	4588	14	1	4	795	4	DMRT2	9	1056315	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08		1056315	140157116	2245	6713										
SMARCA2	6595	broad.mit.edu	37	chr9	2191349	2191349	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggcaagaaaaggccaaatCgaggaaaagccaaacctgta	10	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:2191349C>T	ENST00000382203.1	+	33	4887	c.4678C>T	c.(4678-4680)Cga>Tga	p.R1560*	SMARCA2_ENST00000382185.1_Nonsense_Mutation_p.R206*|SMARCA2_ENST00000349721.2_Nonsense_Mutation_p.R1560*|SMARCA2_ENST00000302401.3_Nonsense_Mutation_p.R248*|SMARCA2_ENST00000357248.2_Nonsense_Mutation_p.R1542*|SMARCA2_ENST00000382186.1_Nonsense_Mutation_p.R224*|SMARCA2_ENST00000324954.5_Nonsense_Mutation_p.R206*|SMARCA2_ENST00000382194.1_Nonsense_Mutation_p.R1542*			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1560					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)		AAGGCCAAATCGAGGAAAAGC	0.458																																						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.(4678-4680)Cga>Tga		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							178	139	152					9																	2191349		2203	4300	6503	SO:0001587	stop_gained	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.chr9:2191349C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.4678C>T	9.37:g.2191349C>T	ENSP00000371638:p.Arg1560*		Somatic				SMARCA2_ENST00000382185.1_Nonsense_Mutation_p.R206*|SMARCA2_ENST00000302401.3_Nonsense_Mutation_p.R248*|SMARCA2_ENST00000357248.2_Nonsense_Mutation_p.R1542*|SMARCA2_ENST00000382186.1_Nonsense_Mutation_p.R224*|SMARCA2_ENST00000349721.2_Nonsense_Mutation_p.R1560*|SMARCA2_ENST00000324954.5_Nonsense_Mutation_p.R206*|SMARCA2_ENST00000382194.1_Nonsense_Mutation_p.R1542*	p.R1560*			WXS	Illumina GAIIx	Phase_I	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	33	4887	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1560					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Nonsense_Mutation	SNP	ENST00000382203.1	37	c.4678C>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	45	11.832411	0.99608	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194;ENST00000302401;ENST00000324954;ENST00000382186;ENST00000417599;ENST00000382185;ENST00000382183;ENST00000382182	.	.	.	5.71	4.81	0.61882	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-16.1751	12.963	0.58468	0.1288:0.7473:0.1239:0.0	.	.	.	.	X	1560;1542;1560;1542;248;206;224;246;206;206;89	.	ENSP00000305411:R248X	R	+	1	2	SMARCA2	2181349	0.995000	0.38212	0.998000	0.56505	0.957000	0.61999	2.011000	0.40922	1.397000	0.46682	-0.182000	0.12963	CGA		0.458	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		31	48	0	0	0	1	0	31	48					T	2191349	C	T	2191349	4	4	48	1	0	0	0	0	0	1	0	0	14784	876	31	1	4804	1	SMARCA2	9	2191349	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1135034	2191349	139022082	2246	6714										
KIAA0020	9933	broad.mit.edu	37	chr9	2831329	2831329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggatcacacgagttgaatCgtgtgcaaatgcaatctgca	10	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:2831329C>T	ENST00000397885.2	-	6	738	c.532G>A	c.(532-534)Gat>Aat	p.D178N	KIAA0020_ENST00000469168.1_5'Flank	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	178	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CGAGTTGAATCGTGTGCAAAT	0.343																																						ENST00000397885.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(532-534)Gat>Aat		KIAA0020							104	102	103					9																	2831329		2203	4300	6503	SO:0001583	missense	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2831329C>T	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.532G>A	9.37:g.2831329C>T	ENSP00000380982:p.Asp178Asn		Somatic					p.D178N	NM_014878.4	NP_055693.4	WXS	Illumina GAIIx	Phase_I	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	6	738	-			178			PUM-HD.		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	c.532G>A	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	C	31	5.103713	0.94245	.	.	ENSG00000080608	ENST00000397885	T	0.69926	-0.44	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86167	0.5868	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88456	0.3052	10	0.72032	D	0.01	-18.7198	18.8511	0.92230	0.0:1.0:0.0:0.0	.	38;178	B2RDG4;Q15397	.;K0020_HUMAN	N	178	ENSP00000380982:D178N	ENSP00000380982:D178N	D	-	1	0	KIAA0020	2821329	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.037000	0.76531	2.779000	0.95612	0.650000	0.86243	GAT		0.343	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		13	31	0	0	0	1	0	13	31					T	2831329	C	T	2831329	3	4	48	1	0	0	0	0	1	0	0	0	8161	884	31	1	1466	1	KIAA0020	9	2831329	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	639980	2831329	138382102	2247	6715										
GLIS3	169792	broad.mit.edu	37	chr9	4118581	4118581	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacaaggacagcgctctcttCttggagcgggccgagtggga	16	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:4118581C>A	ENST00000324333.10	-	3	625	c.432G>T	c.(430-432)aaG>aaT	p.K144N	GLIS3_ENST00000381971.3_Missense_Mutation_p.K299N	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	144	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GCGCTCTCTTCTTGGAGCGGG	0.562																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(430-432)aaG>aaT		GLIS family zinc finger 3							120	107	111					9																	4118581		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4118581C>A	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.432G>T	9.37:g.4118581C>A	ENSP00000325494:p.Lys144Asn		Somatic				GLIS3_ENST00000381971.3_Missense_Mutation_p.K299N	p.K144N	NM_152629.3	NP_689842.3	WXS	Illumina GAIIx	Phase_I	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	625	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	144			Ser-rich.		B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.432G>T	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346230	0.61073	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.20881	2.08;2.04	5.59	4.68	0.58851	.	0.000000	0.53938	D	0.000050	T	0.42426	0.1202	M	0.77103	2.36	0.41971	D	0.99075	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.946	T	0.37197	-0.9716	10	0.54805	T	0.06	.	7.0811	0.25231	0.0:0.708:0.0:0.292	.	299;144	Q8NEA6-2;Q8NEA6	.;GLIS3_HUMAN	N	144;299	ENSP00000325494:K144N;ENSP00000371398:K299N	ENSP00000325494:K144N	K	-	3	2	GLIS3	4108581	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.794000	0.38774	1.336000	0.45506	0.655000	0.94253	AAG		0.562	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		52	74	1	0	2.29192e-23	1	3.20424e-23	52	74					A	4118581	C	A	4118581	3	1	48	1	0	0	0	0	1	0	0	0	6455	912	32	2	1927	2	GLIS3	9	4118581	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1287252	4118581	137094850	2248	6716										
JAK2	3717	broad.mit.edu	37	chr9	5066779	5066779	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taataaatattttttgacttTtgctgtcgaggttagtatgt	8	3	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5066779T>C	ENST00000381652.3	+	10	1810	c.1316T>C	c.(1315-1317)tTt>tCt	p.F439S	JAK2_ENST00000539801.1_Missense_Mutation_p.F439S|JAK2_ENST00000544510.1_Missense_Mutation_p.F290S	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	439	SH2; atypical. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTTTTGACTTTTGCTGTCGAG	0.313		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"T, Mis, O"	Janus kinase 2			L	"ETV6, PCM1, BCR"		"ALL, AML, MPD,  CML"	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(1315-1317)tTt>tCt		Janus kinase 2							52	54	53					9																	5066779		2202	4298	6500	SO:0001583	missense	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5066779T>C		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1316T>C	9.37:g.5066779T>C	ENSP00000371067:p.Phe439Ser		Somatic				JAK2_ENST00000544510.1_Missense_Mutation_p.F290S|JAK2_ENST00000539801.1_Missense_Mutation_p.F439S	p.F439S	NM_004972.3	NP_004963.1	WXS	Illumina GAIIx	Phase_I	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	10	1810	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	439			SH2; atypical.		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.1316T>C	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.400215	0.83120	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.56103	0.48;0.48;0.48	5.51	5.51	0.81932	SH2 motif (4);	0.046831	0.85682	D	0.000000	T	0.66470	0.2792	M	0.63428	1.95	0.80722	D	1	D	0.55800	0.973	P	0.58391	0.838	T	0.70332	-0.4901	10	0.87932	D	0	-20.407	15.2855	0.73826	0.0:0.0:0.0:1.0	.	439	O60674	JAK2_HUMAN	S	439;439;290	ENSP00000440387:F439S;ENSP00000371067:F439S;ENSP00000443103:F290S	ENSP00000371067:F439S	F	+	2	0	JAK2	5056779	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.642000	0.83385	2.082000	0.62665	0.374000	0.22700	TTT		0.313	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			9	12	0	0	0	1	0	9	12					C	5066779	T	C	5066779	3	2	48	1	0	0	0	0	1	0	0	0	7947	1841	64	4	1346	4	JAK2	9	5066779	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	948198	5066779	136146652	2249	6717										
JAK2	3717	broad.mit.edu	37	chr9	5078340	5078340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattcatgggaatgtatgtgCcaaaaatattctgcttatca	7	6	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5078340C>T	ENST00000381652.3	+	16	2521	c.2027C>T	c.(2026-2028)gCc>gTc	p.A676V	JAK2_ENST00000539801.1_Missense_Mutation_p.A676V|AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000544510.1_Missense_Mutation_p.A527V	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	676	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AATGTATGTGCCAAAAATATT	0.363		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"T, Mis, O"	Janus kinase 2			L	"ETV6, PCM1, BCR"		"ALL, AML, MPD,  CML"	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(2026-2028)gCc>gTc		Janus kinase 2							146	159	154					9																	5078340		2203	4300	6503	SO:0001583	missense	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5078340C>T		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.2027C>T	9.37:g.5078340C>T	ENSP00000371067:p.Ala676Val		Somatic				JAK2_ENST00000544510.1_Missense_Mutation_p.A527V|AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000539801.1_Missense_Mutation_p.A676V	p.A676V	NM_004972.3	NP_004963.1	WXS	Illumina GAIIx	Phase_I	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	16	2521	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	676			Protein kinase 1.		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.2027C>T	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578729	0.86645	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.37058	1.22;1.22;1.22	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.211176	0.49305	D	0.000154	T	0.64681	0.2620	M	0.91300	3.195	0.51482	D	0.99992	B	0.30511	0.282	P	0.46339	0.513	T	0.68655	-0.5351	10	0.87932	D	0	-3.5096	19.4912	0.95050	0.0:1.0:0.0:0.0	.	676	O60674	JAK2_HUMAN	V	676;676;527	ENSP00000440387:A676V;ENSP00000371067:A676V;ENSP00000443103:A527V	ENSP00000371067:A676V	A	+	2	0	JAK2	5068340	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.673000	0.68109	2.771000	0.95319	0.561000	0.74099	GCC		0.363	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			33	68	0	0	0	1	0	33	68					T	5078340	C	T	5078340	3	4	48	1	0	0	0	0	1	0	0	0	7947	739	26	3	2081	3	JAK2	9	5078340	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	11561	5078340	136135091	2250	6718										
KIAA1432	57589	broad.mit.edu	37	chr9	5757341	5757341	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctactgctggtattcaagttCttcaggaggtttccatgtca	9	9	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5757341C>A	ENST00000414202.2	+	17	2073	c.1882C>A	c.(1882-1884)Ctt>Att	p.L628I	KIAA1432_ENST00000449720.2_Missense_Mutation_p.L512I|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L628I|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L549I|KIAA1432_ENST00000418622.3_Missense_Mutation_p.L549I	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TATTCAAGTTCTTCAGGAGGT	0.388																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(1882-1884)Ctt>Att		KIAA1432							315	291	299					9																	5757341		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5757341C>A																												ENST00000414202.2:c.1882C>A	9.37:g.5757341C>A	ENSP00000416696:p.Leu628Ile		Somatic				KIAA1432_ENST00000449720.2_Missense_Mutation_p.L512I|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L549I|KIAA1432_ENST00000418622.3_Missense_Mutation_p.L549I|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L628I	p.L628I	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	WXS	Illumina GAIIx	Phase_I	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	17	2073	+		Acute lymphoblastic leukemia(23;0.154)	628						Missense_Mutation	SNP	ENST00000414202.2	37	c.1882C>A	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.63|14.63	2.592783|2.592783	0.46214|0.46214	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.060776|.	0.64402|.	D|.	0.000005|.	T|T	0.64571|0.64571	0.2610|0.2610	L|L	0.54323|0.54323	1.7|1.7	0.44825|0.44825	D|D	0.997836|0.997836	P;P;P;P|.	0.49635|.	0.908;0.639;0.926;0.753|.	B;B;B;B|.	0.42738|.	0.32;0.122;0.396;0.241|.	T|T	0.60250|0.60250	-0.7300|-0.7300	9|5	0.39692|.	T|.	0.17|.	-18.5017|-18.5017	13.8057|13.8057	0.63230|0.63230	0.0:0.9305:0.0:0.0695|0.0:0.9305:0.0:0.0695	.|.	512;549;628;628|.	B7ZM67;B2RN24;Q4ADV7;G5E932|.	.;.;RIC1_HUMAN;.|.	I|Y	628;628;549;549;512|519	.|.	ENSP00000251879:L628I|.	L|S	+|+	1|2	0|0	KIAA1432|KIAA1432	5747341|5747341	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.057000|3.057000	0.49931|0.49931	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.388	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			48	111	1	0	6.3008e-33	1	9.03351e-33	48	111					A	5757341	C	A	5757341	3	1	48	1	0	0	0	0	1	0	0	0	8242	913	32	2	1707	2	KIAA1432	9	5757341	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	679001	5757341	135456090	2251	6719										
ERMP1	79956	broad.mit.edu	37	chr9	5805106	5805106	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgggatttcagaaccacttCtcccgaggataggggtaaac	12	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5805106C>A	ENST00000339450.5	-	10	1924	c.1835G>T	c.(1834-1836)aGa>aTa	p.R612I	ERMP1_ENST00000543230.1_Missense_Mutation_p.R190I|ERMP1_ENST00000381506.3_Intron|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	612						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)		AGAACCACTTCTCCCGAGGAT	0.383																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(1834-1836)aGa>aTa		endoplasmic reticulum metallopeptidase 1							89	82	84					9																	5805106		2203	4300	6503	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5805106C>A	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.1835G>T	9.37:g.5805106C>A	ENSP00000340427:p.Arg612Ile		Somatic				ERMP1_ENST00000543230.1_Missense_Mutation_p.R190I|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Intron	p.R612I	NM_024896.2	NP_079172.2	WXS	Illumina GAIIx	Phase_I	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	10	1924	-		Acute lymphoblastic leukemia(23;0.158)	612					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.1835G>T	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078336	0.94000	.	.	ENSG00000099219	ENST00000339450;ENST00000543230	T;T	0.28069	1.63;1.63	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58148	-0.7687	10	0.87932	D	0	-20.5408	19.8327	0.96642	0.0:1.0:0.0:0.0	.	612	Q7Z2K6	ERMP1_HUMAN	I	612;190	ENSP00000340427:R612I;ENSP00000439368:R190I	ENSP00000340427:R612I	R	-	2	0	ERMP1	5795106	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.487000	0.81328	2.686000	0.91538	0.591000	0.81541	AGA		0.383	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		9	47	1	0	2.17888e-05	1	2.39107e-05	9	47					A	5805106	C	A	5805106	3	1	48	1	0	0	0	0	1	0	0	0	5238	913	32	2	903	2	ERMP1	9	5805106	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	47765	5805106	135408325	2252	6720										
ERMP1	79956	broad.mit.edu	37	chr9	5810024	5810024	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacttaccatgtaataaaatCttttcgcaagagtatgtata	5	7	1	1	rs374389047		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5810024C>A	ENST00000339450.5	-	8	1624	c.1535G>T	c.(1534-1536)aGa>aTa	p.R512I	ERMP1_ENST00000543230.1_Missense_Mutation_p.R90I|ERMP1_ENST00000381506.3_Missense_Mutation_p.R288I|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	512						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)		GTAATAAAATCTTTTCGCAAG	0.368																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(1534-1536)aGa>aTa		endoplasmic reticulum metallopeptidase 1		C	ILE/ARG	1,4405	2.1+/-5.4	0,1,2202	92	91	92		1535	3.9	1	9		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	ERMP1	NM_024896.2	97	0,2,6501	AA,AC,CC		0.0116,0.0227,0.0154	benign	512/905	5810024	2,13004	2203	4300	6503	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5810024C>A	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.1535G>T	9.37:g.5810024C>A	ENSP00000340427:p.Arg512Ile		Somatic				ERMP1_ENST00000543230.1_Missense_Mutation_p.R90I|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Missense_Mutation_p.R288I	p.R512I	NM_024896.2	NP_079172.2	WXS	Illumina GAIIx	Phase_I	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	8	1624	-		Acute lymphoblastic leukemia(23;0.158)	512					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.1535G>T	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495733	0.44352	2.27E-4	1.16E-4	ENSG00000099219	ENST00000339450;ENST00000543230;ENST00000381506	T	0.48836	0.8	5.77	3.92	0.45320	.	0.209062	0.51477	D	0.000093	T	0.32255	0.0823	L	0.38175	1.15	0.48511	D	0.999663	B	0.22346	0.068	B	0.18263	0.021	T	0.16394	-1.0404	10	0.35671	T	0.21	-12.5744	4.9299	0.13912	0.0:0.4762:0.3066:0.2173	.	512	Q7Z2K6	ERMP1_HUMAN	I	512;90;288	ENSP00000340427:R512I	ENSP00000340427:R512I	R	-	2	0	ERMP1	5800024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.116000	0.41930	1.585000	0.49928	0.655000	0.94253	AGA		0.368	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		7	43	1	0	2.0095e-06	1	2.25447e-06	7	43					A	5810024	C	A	5810024	3	1	48	1	0	0	0	0	1	0	0	0	5238	913	32	2	1211	2	ERMP1	9	5810024	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4918	5810024	135403407	2253	6721										
ERMP1	79956	broad.mit.edu	37	chr9	5811254	5811254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaagaccatgtttccatgtCgatacttagaagcagcagcc	9	10	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5811254C>T	ENST00000339450.5	-	7	1273	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	ERMP1_ENST00000543230.1_5'Flank|ERMP1_ENST00000381506.3_Missense_Mutation_p.R171Q|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	395						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)		GTTTCCATGTCGATACTTAGA	0.393																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(1183-1185)cGa>cAa		endoplasmic reticulum metallopeptidase 1							162	136	145					9																	5811254		2203	4300	6503	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5811254C>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.1184G>A	9.37:g.5811254C>T	ENSP00000340427:p.Arg395Gln		Somatic				ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_Missense_Mutation_p.R171Q	p.R395Q	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	1273	-		Acute lymphoblastic leukemia(23;0.158)	395					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.1184G>A	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965742	0.53507	.	.	ENSG00000099219	ENST00000339450;ENST00000381506	T	0.45668	0.89	5.9	-4.89	0.03103	.	0.724542	0.13527	N	0.381236	T	0.34424	0.0897	L	0.52573	1.65	0.45139	D	0.998156	B	0.21309	0.054	B	0.16722	0.016	T	0.36841	-0.9731	10	0.15952	T	0.53	0.1544	19.2734	0.94019	0.0:0.8646:0.0:0.1354	.	395	Q7Z2K6	ERMP1_HUMAN	Q	395;171	ENSP00000340427:R395Q	ENSP00000340427:R395Q	R	-	2	0	ERMP1	5801254	0.682000	0.27624	0.038000	0.18304	0.978000	0.69477	1.326000	0.33735	-0.539000	0.06273	-0.290000	0.09829	CGA		0.393	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		22	74	0	0	0	1	0	22	74					T	5811254	C	T	5811254	3	4	48	1	0	0	0	0	1	0	0	0	5238	884	31	1	1566	1	ERMP1	9	5811254	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1230	5811254	135402177	2254	6722										
KIAA2026	158358	broad.mit.edu	37	chr9	5922560	5922560	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aactgatgctaaagaagaatTtatatttgttgtctgtggga	10	3	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5922560T>G	ENST00000399933.3	-	8	3435	c.3436A>C	c.(3436-3438)Aat>Cat	p.N1146H	KIAA2026_ENST00000381461.2_Missense_Mutation_p.N1116H	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1146										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)		AAAGAAGAATTTATATTTGTT	0.353																																						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.(3436-3438)Aat>Cat		KIAA2026							136	130	132					9																	5922560		1853	4100	5953	SO:0001583	missense	158358							g.chr9:5922560T>G	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3436A>C	9.37:g.5922560T>G	ENSP00000382815:p.Asn1146His		Somatic				KIAA2026_ENST00000381461.2_Missense_Mutation_p.N1116H	p.N1146H	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	3435	-		Acute lymphoblastic leukemia(23;0.158)	1146					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.3436A>C		.	.	.	.	.	.	.	.	.	.	T	11.93	1.787115	0.31593	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.46	5.46	0.80206	.	0.000000	0.53938	D	0.000059	T	0.46268	0.1384	L	0.27053	0.805	0.09310	N	1	D	0.59767	0.986	P	0.56514	0.8	T	0.41822	-0.9487	9	0.49607	T	0.09	-3.1361	15.5284	0.75932	0.0:0.0:0.0:1.0	.	1146	Q5HYC2	K2026_HUMAN	H	1146;1116	.	ENSP00000370870:N1116H	N	-	1	0	KIAA2026	5912560	0.995000	0.38212	0.302000	0.25058	0.292000	0.27327	6.818000	0.75257	2.074000	0.62210	0.454000	0.30748	AAT		0.353	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		14	53	0	0	0	1	0	14	53					G	5922560	T	G	5922560	3	3	48	1	0	0	0	0	1	0	0	0	8279	1841	64	4	2879	4	KIAA2026	9	5922560	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	111306	5922560	135290871	2255	6723										
RANBP6	26953	broad.mit.edu	37	chr9	6014728	6014728	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggagtggcagtttcagacaAggtcactataacttcgaggg	13	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:6014728A>C	ENST00000259569.5	-	1	890	c.880T>G	c.(880-882)Ttg>Gtg	p.L294V	RANBP6_ENST00000485372.1_Intron	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	294					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)		GTTTCAGACAAGGTCACTATA	0.398																																						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.(880-882)Ttg>Gtg		RAN binding protein 6							51	50	50					9																	6014728		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6014728A>C	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.880T>G	9.37:g.6014728A>C	ENSP00000259569:p.Leu294Val		Somatic				RANBP6_ENST00000485372.1_Intron	p.L294V	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	890	-		Acute lymphoblastic leukemia(23;0.158)	294					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.880T>G	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.327783	0.41197	.	.	ENSG00000137040	ENST00000259569	T	0.71934	-0.61	4.34	2.0	0.26442	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	U	0.000002	T	0.82213	0.4988	M	0.89287	3.02	0.51233	D	0.999916	D	0.76494	0.999	D	0.70016	0.967	T	0.79759	-0.1668	10	0.56958	D	0.05	-5.2487	6.1456	0.20283	0.7012:0.0:0.2988:0.0	.	294	O60518	RNBP6_HUMAN	V	294	ENSP00000259569:L294V	ENSP00000259569:L294V	L	-	1	2	RANBP6	6004728	0.992000	0.36948	1.000000	0.80357	0.989000	0.77384	1.793000	0.38764	0.443000	0.26582	0.533000	0.62120	TTG		0.398	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		13	29	0	0	0	1	0	13	29					C	6014728	A	C	6014728	3	2	48	1	0	0	0	0	1	0	0	0	13046	69	3	4	2441	4	RANBP6	9	6014728	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	92168	6014728	135198703	2256	6724										
RANBP6	26953	broad.mit.edu	37	chr9	6015322	6015322	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatcagttcaatcttgacatCtctctgaacatcagcaggca	6	11	6	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:6015322C>T	ENST00000259569.5	-	1	296	c.286G>A	c.(286-288)Gat>Aat	p.D96N	RANBP6_ENST00000485372.1_Intron	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	96					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)		ATCTTGACATCTCTCTGAACA	0.438																																						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.(286-288)Gat>Aat		RAN binding protein 6							85	86	86					9																	6015322		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6015322C>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.286G>A	9.37:g.6015322C>T	ENSP00000259569:p.Asp96Asn		Somatic				RANBP6_ENST00000485372.1_Intron	p.D96N	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	296	-		Acute lymphoblastic leukemia(23;0.158)	96					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.286G>A	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629353	0.28978	.	.	ENSG00000137040	ENST00000259569	T	0.68181	-0.31	4.39	4.39	0.52855	Armadillo-like helical (1);Armadillo-type fold (1);	0.106696	0.64402	D	0.000007	T	0.42108	0.1188	N	0.03608	-0.345	0.40495	D	0.980587	B	0.09022	0.002	B	0.01281	0.0	T	0.34004	-0.9846	10	0.17369	T	0.5	-11.1367	15.272	0.73708	0.0:1.0:0.0:0.0	.	96	O60518	RNBP6_HUMAN	N	96	ENSP00000259569:D96N	ENSP00000259569:D96N	D	-	1	0	RANBP6	6005322	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.736000	0.68597	2.733000	0.93635	0.561000	0.74099	GAT		0.438	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		27	54	0	0	0	1	0	27	54					T	6015322	C	T	6015322	3	4	48	1	0	0	0	0	1	0	0	0	13046	913	32	3	3035	3	RANBP6	9	6015322	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	594	6015322	135198109	2257	6725										
KDM4C	23081	broad.mit.edu	37	chr9	6980999	6980999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttcagccagacagatatcaGctttggaaacaaggaaagga	10	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:6980999G>A	ENST00000381309.3	+	9	1561	c.996G>A	c.(994-996)caG>caA	p.Q332Q	KDM4C_ENST00000442236.2_Silent_p.Q151Q|KDM4C_ENST00000428870.2_Silent_p.Q19Q|KDM4C_ENST00000535193.1_Silent_p.Q354Q|KDM4C_ENST00000543771.1_Silent_p.Q332Q|KDM4C_ENST00000536108.1_Silent_p.Q151Q|KDM4C_ENST00000381306.3_Silent_p.Q332Q|RP11-403H13.1_ENST00000445708.1_RNA	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	332					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						ACAGATATCAGCTTTGGAAAC	0.453																																						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.(994-996)caG>caA		lysine (K)-specific demethylase 4C							141	129	133					9																	6980999		2203	4300	6503	SO:0001819	synonymous_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.chr9:6980999G>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.996G>A	9.37:g.6980999G>A			Somatic				KDM4C_ENST00000428870.2_Silent_p.Q19Q|KDM4C_ENST00000543771.1_Silent_p.Q332Q|KDM4C_ENST00000535193.1_Silent_p.Q354Q|KDM4C_ENST00000442236.2_Silent_p.Q151Q|KDM4C_ENST00000381306.3_Silent_p.Q332Q|KDM4C_ENST00000536108.1_Silent_p.Q151Q	p.Q332Q	NM_015061.3	NP_055876.2	WXS	Illumina GAIIx	Phase_I	Q9H3R0	KDM4C_HUMAN			9	1561	+			332					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	ENST00000381309.3	37	c.996G>A	CCDS6471.1																																																																																				0.453	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		19	43	0	0	0	1	0	19	43					A	6980999	G	A	6980999	2	1	48	1	0	0	0	0	0	0	0	1	8139	962	34	3		3	KDM4C	9	6980999	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	965677	6980999	134232432	2258	6726										
PTPRD	5789	broad.mit.edu	37	chr9	8404577	8404577	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acccgggaatgatcatatgcGattacattcgcgtatctatt	8	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:8404577G>A	ENST00000381196.4	-	33	4713	c.4170C>T	c.(4168-4170)atC>atT	p.I1390I	PTPRD_ENST00000360074.4_Silent_p.I1377I|PTPRD_ENST00000355233.5_Silent_p.I984I|PTPRD_ENST00000540109.1_Silent_p.I1390I|PTPRD_ENST00000397606.3_Silent_p.I983I|PTPRD_ENST00000486161.1_Silent_p.I983I|PTPRD_ENST00000358503.5_Silent_p.I1368I|PTPRD_ENST00000397611.3_Silent_p.I980I|PTPRD_ENST00000397617.3_Silent_p.I983I|PTPRD_ENST00000537002.1_Silent_p.I980I|PTPRD_ENST00000356435.5_Silent_p.I1390I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1390	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GATCATATGCGATTACATTCG	0.388										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.(4168-4170)atC>atT		protein tyrosine phosphatase, receptor type, D							180	149	160					9																	8404577		2203	4300	6503	SO:0001819	synonymous_variant	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8404577G>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.4170C>T	9.37:g.8404577G>A		TSP Lung(15;0.13)	Somatic				PTPRD_ENST00000355233.5_Silent_p.I984I|PTPRD_ENST00000486161.1_Silent_p.I983I|PTPRD_ENST00000360074.4_Silent_p.I1377I|PTPRD_ENST00000397611.3_Silent_p.I980I|PTPRD_ENST00000397617.3_Silent_p.I983I|PTPRD_ENST00000397606.3_Silent_p.I983I|PTPRD_ENST00000537002.1_Silent_p.I980I|PTPRD_ENST00000540109.1_Silent_p.I1390I|PTPRD_ENST00000358503.5_Silent_p.I1368I|PTPRD_ENST00000356435.5_Silent_p.I1390I	p.I1390I	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)	33	4713	-		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)	1390			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.4170C>T	CCDS43786.1																																																																																				0.388	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			10	18	0	0	0	1	0	10	18					A	8404577	G	A	8404577	2	1	48	1	0	0	0	0	0	0	0	1	12814	1048	37	1		1	PTPRD	9	8404577	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1423578	8404577	132808854	2259	6727										
FREM1	158326	broad.mit.edu	37	chr9	14748461	14748461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atctgtagaatcaaagccccGcagggtgtctcccctgatga	10	12	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:14748461G>A	ENST00000380880.3	-	31	6517	c.5734C>T	c.(5734-5736)Cgg>Tgg	p.R1912W	FREM1_ENST00000380894.1_Missense_Mutation_p.R448W|FREM1_ENST00000422223.2_Missense_Mutation_p.R1912W|FREM1_ENST00000380881.4_Missense_Mutation_p.R1913W			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1912					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)		TCAAAGCCCCGCAGGGTGTCT	0.498																																						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.(5737-5739)Cgg>Tgg		FRAS1 related extracellular matrix 1							68	69	68					9																	14748461		1837	4079	5916	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14748461G>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.5734C>T	9.37:g.14748461G>A	ENSP00000370262:p.Arg1912Trp		Somatic				FREM1_ENST00000422223.2_Missense_Mutation_p.R1912W|FREM1_ENST00000380894.1_Missense_Mutation_p.R448W|FREM1_ENST00000380880.3_Missense_Mutation_p.R1912W	p.R1913W			WXS	Illumina GAIIx	Phase_I	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	32	6552	-			1912					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.5737C>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	4.590	0.109597	0.08780	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.13778	2.81;2.81;2.56;2.81	5.8	2.87	0.33458	.	1.415490	0.03978	N	0.292843	T	0.13884	0.0336	L	0.36672	1.1	0.09310	N	1	B;D	0.63880	0.001;0.993	B;B	0.43123	0.0;0.409	T	0.19614	-1.0300	10	0.56958	D	0.05	0.2562	5.6075	0.17387	0.0703:0.261:0.5337:0.1349	.	1912;448	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	W	1913;1912;448;1912	ENSP00000370263:R1913W;ENSP00000412940:R1912W;ENSP00000370278:R448W;ENSP00000370262:R1912W	ENSP00000370262:R1912W	R	-	1	2	FREM1	14738461	0.002000	0.14202	0.000000	0.03702	0.168000	0.22595	1.204000	0.32296	0.327000	0.23409	-0.244000	0.11960	CGG		0.498	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		28	54	0	0	0	1	0	28	54					A	14748461	G	A	14748461	3	1	48	1	0	0	0	0	1	0	0	0	6052	1086	38	1	833	1	FREM1	9	14748461	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	6343884	14748461	126464970	2260	6728										
FREM1	158326	broad.mit.edu	37	chr9	14804984	14804984	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcactacaaagtcaggagcTtcatcatttgtggggttgat	11	7	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:14804984T>G	ENST00000380880.3	-	19	4224	c.3441A>C	c.(3439-3441)gaA>gaC	p.E1147D	FREM1_ENST00000422223.2_Missense_Mutation_p.E1147D|FREM1_ENST00000380881.4_Missense_Mutation_p.E1148D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1147					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)		AGTCAGGAGCTTCATCATTTG	0.358																																						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.(3442-3444)gaA>gaC		FRAS1 related extracellular matrix 1							110	109	109					9																	14804984		1869	4102	5971	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14804984T>G	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.3441A>C	9.37:g.14804984T>G	ENSP00000370262:p.Glu1147Asp		Somatic				FREM1_ENST00000422223.2_Missense_Mutation_p.E1147D|FREM1_ENST00000380880.3_Missense_Mutation_p.E1147D	p.E1148D			WXS	Illumina GAIIx	Phase_I	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	20	4259	-			1147					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.3444A>C	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984378	0.74474	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.40756	1.02;1.02;1.02	5.42	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.67692	0.2920	M	0.91459	3.21	0.45216	D	0.998224	D	0.89917	1.0	D	0.91635	0.999	T	0.70103	-0.4964	10	0.56958	D	0.05	-20.7322	8.3781	0.32455	0.0:0.1501:0.0:0.8499	.	1147	Q5H8C1	FREM1_HUMAN	D	1148;1147;1147	ENSP00000370263:E1148D;ENSP00000412940:E1147D;ENSP00000370262:E1147D	ENSP00000370257:E1150D	E	-	3	2	FREM1	14794984	1.000000	0.71417	0.985000	0.45067	0.935000	0.57460	1.941000	0.40233	0.904000	0.36572	0.528000	0.53228	GAA		0.358	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		24	36	0	0	0	1	0	24	36					G	14804984	T	G	14804984	3	3	48	1	0	0	0	0	1	0	0	0	6052	1606	56	4	3224	4	FREM1	9	14804984	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	56523	14804984	126408447	2261	6729										
TTC39B	158219	broad.mit.edu	37	chr9	15267934	15267934	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagatggtttccaaggcatCttcgaaaacgtcctggggga	13	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:15267934C>A	ENST00000512701.2	-	2	289	c.253G>T	c.(253-255)Gat>Tat	p.D85Y	TTC39B_ENST00000297615.5_Missense_Mutation_p.D85Y|TTC39B_ENST00000541445.1_Missense_Mutation_p.D19Y|TTC39B_ENST00000380850.4_Missense_Mutation_p.D85Y|TTC39B_ENST00000355694.2_Missense_Mutation_p.D19Y			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	85										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TCCAAGGCATCTTCGAAAACG	0.299																																						ENST00000355694.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						c.(55-57)Gat>Tat		tetratricopeptide repeat domain 39B							71	72	72					9																	15267934		2202	4299	6501	SO:0001583	missense	158219						binding	g.chr9:15267934C>A	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.253G>T	9.37:g.15267934C>A	ENSP00000422496:p.Asp85Tyr		Somatic				TTC39B_ENST00000297615.5_Missense_Mutation_p.D85Y|TTC39B_ENST00000512701.1_Missense_Mutation_p.D85Y|TTC39B_ENST00000380850.4_Missense_Mutation_p.D85Y|TTC39B_ENST00000541445.1_Missense_Mutation_p.D19Y	p.D19Y	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	WXS	Illumina GAIIx	Phase_I	Q5VTQ0	TT39B_HUMAN			2	289	-			19					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	c.55G>T	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704275	0.48412	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000541445;ENST00000506891	T;T;T;T;T	0.56941	1.11;0.86;1.29;1.11;0.43	3.5	3.5	0.40072	.	.	.	.	.	T	0.68192	0.2974	M	0.71206	2.165	0.39744	D	0.97179	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.77557	0.976;0.99;0.99;0.99;0.99	T	0.72597	-0.4245	9	0.87932	D	0	-1.8889	10.8024	0.46495	0.0:1.0:0.0:0.0	.	85;85;85;19;19	F5H705;E9PAQ9;E9PE60;A5PLN1;Q5VTQ0	.;.;.;.;TT39B_HUMAN	Y	85;85;19;85;19;47	ENSP00000370231:D85Y;ENSP00000297615:D85Y;ENSP00000347920:D19Y;ENSP00000422496:D85Y;ENSP00000442880:D19Y	ENSP00000297615:D85Y	D	-	1	0	TTC39B	15257934	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.018000	0.49625	2.239000	0.73571	0.484000	0.47621	GAT		0.299	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		15	32	1	0	3.27435e-08	1	3.83577e-08	15	32					A	15267934	C	A	15267934	3	1	48	1	0	0	0	0	1	0	0	0	16723	913	32	2	1892	2	TTC39B	9	15267934	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	462950	15267934	125945497	2262	6730										
SNAPC3	6619	broad.mit.edu	37	chr9	15453106	15453106	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcagactgctagaatggaaGatttcaccttcaatgacttg	8	8	3	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:15453106G>T	ENST00000380821.3	+	7	1059	c.883G>T	c.(883-885)Gat>Tat	p.D295Y	SNAPC3_ENST00000380799.1_Missense_Mutation_p.D92Y	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	295					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		TAGAATGGAAGATTTCACCTT	0.393																																						ENST00000380821.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12						c.(883-885)Gat>Tat		small nuclear RNA activating complex, polypeptide 3, 50kDa							197	191	193					9																	15453106		2203	4300	6503	SO:0001583	missense	6619				regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding	g.chr9:15453106G>T	U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"small nuclear RNA activating complex, polypeptide 3, 50kD"			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.883G>T	9.37:g.15453106G>T	ENSP00000370200:p.Asp295Tyr		Somatic				SNAPC3_ENST00000380799.1_Missense_Mutation_p.D92Y	p.D295Y	NM_001039697.1	NP_001034786.1	WXS	Illumina GAIIx	Phase_I	Q92966	SNPC3_HUMAN		GBM - Glioblastoma multiforme(50;2.15e-06)	7	1059	+			295					D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	ENST00000380821.3	37	c.883G>T	CCDS6478.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200295	0.79015	.	.	ENSG00000164975	ENST00000380821;ENST00000380799	T;T	0.49432	0.78;0.78	5.06	5.06	0.68205	.	0.046837	0.85682	D	0.000000	T	0.64338	0.2589	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	T	0.67665	-0.5612	10	0.87932	D	0	-9.4773	15.5734	0.76356	0.0:0.1377:0.8623:0.0	.	295	Q92966	SNPC3_HUMAN	Y	295;92	ENSP00000370200:D295Y;ENSP00000370177:D92Y	ENSP00000370177:D92Y	D	+	1	0	SNAPC3	15443106	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.547000	0.73892	2.358000	0.79984	0.561000	0.74099	GAT		0.393	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	NM_001039697		16	59	1	0	4.14922e-12	1	5.21015e-12	16	59					T	15453106	G	T	15453106	3	4	48	1	0	0	0	0	1	0	0	0	14851	942	33	2	909	2	SNAPC3	9	15453106	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	185172	15453106	125760325	2263	6731										
ADAMTSL1	92949	broad.mit.edu	37	chr9	18639251	18639251	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcacgtgtttgatcatataGatctggaaaccaaaaccctc	6	10	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:18639251G>T	ENST00000380548.4	+	7	1015		c.e7-1		ADAMTSL1_ENST00000276935.6_Splice_Site|ADAMTSL1_ENST00000327883.7_Splice_Site|ADAMTSL1_ENST00000380566.4_Splice_Site	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1							proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.?(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)		TGATCATATAGATCTGGAAAC	0.438																																						ENST00000380548.4																			2	Unknown(2)	p.?(2)	endometrium(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.e7-1		ADAMTS-like 1							68	61	63					9																	18639251		2203	4299	6502	SO:0001630	splice_region_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18639251G>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.677-1G>T	9.37:g.18639251G>T			Somatic				ADAMTSL1_ENST00000327883.7_Splice_Site|ADAMTSL1_ENST00000380566.4_Splice_Site|ADAMTSL1_ENST00000276935.6_Splice_Site		NM_001040272.5	NP_001035362.3	WXS	Illumina GAIIx	Phase_I	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	7	1015	+								A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Splice_Site	SNP	ENST00000380548.4	37		CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896992	0.72639	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3472	0.98799	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAMTSL1	18629251	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.654000	0.91092	2.890000	0.99128	0.650000	0.86243	.		0.438	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		Intron	16	13	1	0	1.5739e-10	1	1.93697e-10	16	13					T	18639251	G	T	18639251	5	4	48	1	0	0	0	0	0	0	1	0	274	956	33	2	702	2	ADAMTSL1	9	18639251	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3186145	18639251	122574180	2264	6732										
FAM154A	158297	broad.mit.edu	37	chr9	18950823	18950823	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgccttggcttgaaggactCtctgggcaggtaggagtgat	15	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:18950823C>A	ENST00000380534.4	-	2	430	c.151G>T	c.(151-153)Gag>Tag	p.E51*	FAM154A_ENST00000380530.1_Nonsense_Mutation_p.E51*|FAM154A_ENST00000542071.1_5'UTR|FAM154A_ENST00000583128.1_5'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	51										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)		TTGAAGGACTCTCTGGGCAGG	0.463																																						ENST00000380534.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26						c.(151-153)Gag>Tag		family with sequence similarity 154, member A							200	185	190					9																	18950823		2203	4300	6503	SO:0001587	stop_gained	158297							g.chr9:18950823C>A	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 138"	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.151G>T	9.37:g.18950823C>A	ENSP00000369907:p.Glu51*		Somatic				FAM154A_ENST00000583128.1_5'UTR|FAM154A_ENST00000380530.1_Nonsense_Mutation_p.E51*|FAM154A_ENST00000542071.1_5'UTR	p.E51*	NM_153707.2	NP_714918.2	WXS	Illumina GAIIx	Phase_I	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	2	430	-			51					Q5VY58	Nonsense_Mutation	SNP	ENST00000380534.4	37	c.151G>T	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	C	38	6.711544	0.97780	.	.	ENSG00000155875	ENST00000380534;ENST00000380530	.	.	.	5.54	4.63	0.57726	.	0.483430	0.18855	N	0.129289	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-1.5897	11.2968	0.49282	0.0:0.9099:0.0:0.0901	.	.	.	.	X	51	.	ENSP00000369902:E51X	E	-	1	0	FAM154A	18940823	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	2.082000	0.41605	1.314000	0.45095	0.655000	0.94253	GAG		0.463	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		50	78	1	0	8.94452e-30	1	1.27491e-29	50	78					A	18950823	C	A	18950823	4	1	48	1	0	0	0	0	0	1	0	0	5468	922	32	2	1285	2	FAM154A	9	18950823	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	311572	18950823	122262608	2265	6733										
HAUS6	54801	broad.mit.edu	37	chr9	19093207	19093207	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatatttcattgcaacaaatCttgcaaaatgatacatcaga	4	7	3	2	rs142253364		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:19093207C>A	ENST00000380502.3	-	4	865	c.398G>T	c.(397-399)aGa>aTa	p.R133I	HAUS6_ENST00000380496.1_5'UTR	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	133					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCAACAAATCTTGCAAAATG	0.284																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(397-399)aGa>aTa		HAUS augmin-like complex, subunit 6							45	42	43					9																	19093207		2203	4296	6499	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19093207C>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.398G>T	9.37:g.19093207C>A	ENSP00000369871:p.Arg133Ile		Somatic				HAUS6_ENST00000380496.1_5'UTR	p.R133I	NM_017645.3	NP_060115.3	WXS	Illumina GAIIx	Phase_I	Q7Z4H7	HAUS6_HUMAN			4	865	-			133					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.398G>T	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555703	0.65425	.	.	ENSG00000147874	ENST00000380502	T	0.26518	1.73	4.87	3.03	0.35002	.	0.257048	0.44285	D	0.000473	T	0.48114	0.1482	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.43718	-0.9374	10	0.72032	D	0.01	-6.8827	9.1653	0.37048	0.0:0.8282:0.0:0.1718	.	133	Q7Z4H7	HAUS6_HUMAN	I	133	ENSP00000369871:R133I	ENSP00000369871:R133I	R	-	2	0	HAUS6	19083207	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.203000	0.32284	0.469000	0.27268	0.563000	0.77884	AGA		0.284	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		14	25	1	0	0.000151284	1	0.00016287	14	25					A	19093207	C	A	19093207	3	1	48	1	0	0	0	0	1	0	0	0	6979	913	32	2	2525	2	HAUS6	9	19093207	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	142384	19093207	122120224	2266	6734										
DENND4C	55667	broad.mit.edu	37	chr9	19296187	19296187	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttgaagcttttaggaaatTtcttatgtttatctacaaac	5	5	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:19296187T>G	ENST00000380432.2	+	2	308	c.275T>G	c.(274-276)tTt>tGt	p.F92C	DENND4C_ENST00000434457.2_Missense_Mutation_p.F328C|DENND4C_ENST00000602925.1_Missense_Mutation_p.F328C			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	92	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTTAGGAAATTTCTTATGTTT	0.368																																						ENST00000380432.2																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(274-276)tTt>tGt		DENN/MADD domain containing 4C							161	147	152					9																	19296187		1806	4078	5884	SO:0001583	missense	55667					integral to membrane		g.chr9:19296187T>G	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.275T>G	9.37:g.19296187T>G	ENSP00000369797:p.Phe92Cys		Somatic				DENND4C_ENST00000434457.2_Missense_Mutation_p.F328C|DENND4C_ENST00000602925.1_Missense_Mutation_p.F328C|DENND4C_ENST00000307015.9_5'UTR	p.F92C	NM_017925.4	NP_060395.5	WXS	Illumina GAIIx	Phase_I	Q5VZ89	DEN4C_HUMAN			2	308	+			92			DENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.275T>G		.	.	.	.	.	.	.	.	.	.	T	20.6	4.019008	0.75275	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.88	4.88	0.63580	DENN (3);	0.000000	0.85682	D	0.000000	T	0.74092	0.3671	L	0.49513	1.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77146	-0.2695	9	0.87932	D	0	-22.5242	14.6596	0.68861	0.0:0.0:0.0:1.0	.	92	Q5VZ89	DEN4C_HUMAN	C	92	.	ENSP00000369802:F92C	F	+	2	0	DENND4C	19286187	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.808000	0.86044	2.045000	0.60652	0.482000	0.46254	TTT		0.368	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		34	64	0	0	0	1	0	34	64					G	19296187	T	G	19296187	3	3	48	1	0	0	0	0	1	0	0	0	4437	1841	64	4	281	4	DENND4C	9	19296187	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	202980	19296187	121917244	2267	6735										
DENND4C	55667	broad.mit.edu	37	chr9	19346945	19346945	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttgggttctgtagtaaattCtttgtcagggctaaagctgg	13	5	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:19346945C>A	ENST00000380432.2	+	18	3356	c.3323C>A	c.(3322-3324)tCt>tAt	p.S1108Y	DENND4C_ENST00000434457.2_Missense_Mutation_p.S1393Y|DENND4C_ENST00000602925.1_Missense_Mutation_p.S1344Y			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1108					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTAGTAAATTCTTTGTCAGGG	0.463																																						ENST00000307015.9																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1741-1743)tCt>tAt		DENN/MADD domain containing 4C							50	50	50					9																	19346945		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19346945C>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.3323C>A	9.37:g.19346945C>A	ENSP00000369797:p.Ser1108Tyr		Somatic				DENND4C_ENST00000434457.2_Missense_Mutation_p.S1393Y|DENND4C_ENST00000380432.2_Missense_Mutation_p.S1108Y|DENND4C_ENST00000602925.1_Missense_Mutation_p.S1344Y|DENND4C_ENST00000540671.1_Missense_Mutation_p.S438Y	p.S581Y			WXS	Illumina GAIIx	Phase_I	Q5VZ89	DEN4C_HUMAN			19	3494	+			1108					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.1742C>A		.	.	.	.	.	.	.	.	.	.	C	25.3	4.624416	0.87560	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	T;T	0.56444	0.46;0.46	5.56	5.56	0.83823	.	4.821550	0.00465	N	0.000103	T	0.77611	0.4156	M	0.62723	1.935	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.996;1.0;0.995	D;D;D;P	0.75484	0.986;0.939;0.986;0.903	T	0.60357	-0.7279	10	0.87932	D	0	-19.9163	19.5261	0.95208	0.0:1.0:0.0:0.0	.	438;1108;290;1108	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	Y	1108;581;290;438;581;290;105	ENSP00000305795:S581Y;ENSP00000443804:S438Y	ENSP00000305795:S581Y	S	+	2	0	DENND4C	19336945	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.757000	0.68766	2.616000	0.88540	0.655000	0.94253	TCT		0.463	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		10	32	1	0	3.86212e-05	1	4.21111e-05	10	32					A	19346945	C	A	19346945	3	1	48	1	0	0	0	0	1	0	0	0	4437	913	32	2	3393	2	DENND4C	9	19346945	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	50758	19346945	121866486	2268	6736										
SLC24A2	25769	broad.mit.edu	37	chr9	19576994	19576994	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttcttggcgatcttgtggaGaattgaagccttttctctga	10	8	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:19576994G>T	ENST00000341998.2	-	5	1217	c.1156C>A	c.(1156-1158)Ctc>Atc	p.L386I	SLC24A2_ENST00000286344.3_Missense_Mutation_p.L369I	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	386					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ATCTTGTGGAGAATTGAAGCC	0.502																																						ENST00000341998.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1156-1158)Ctc>Atc		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2							192	164	173					9																	19576994		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19576994G>T	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1156C>A	9.37:g.19576994G>T	ENSP00000344801:p.Leu386Ile		Somatic				SLC24A2_ENST00000286344.3_Missense_Mutation_p.L369I	p.L386I	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	WXS	Illumina GAIIx	Phase_I	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	5	1217	-			386					B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.1156C>A	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665627	0.67700	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.78126	-1.06;-1.15	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.82815	0.5119	M	0.77313	2.365	0.80722	D	1	B;B	0.27971	0.191;0.196	B;B	0.39152	0.292;0.213	T	0.78802	-0.2061	9	.	.	.	.	18.8624	0.92278	0.0:0.0:1.0:0.0	.	369;386	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	I	386;369	ENSP00000344801:L386I;ENSP00000286344:L369I	.	L	-	1	0	SLC24A2	19566994	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.210000	0.89753	2.755000	0.94549	0.591000	0.81541	CTC		0.502	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		38	55	1	0	2.40579e-17	1	3.22781e-17	38	55					T	19576994	G	T	19576994	3	4	48	1	0	0	0	0	1	0	0	0	14481	942	33	2	853	2	SLC24A2	9	19576994	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	230049	19576994	121636437	2269	6737										
MLLT3	4300	broad.mit.edu	37	chr9	20414132	20414132	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctttcagtggtttattttCtttgggtttcttagaggatt	9	4	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:20414132C>A	ENST00000380338.4	-	5	998	c.712G>T	c.(712-714)Gaa>Taa	p.E238*	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Nonsense_Mutation_p.E235*|MLLT3_ENST00000355930.6_5'UTR|MIR4473_ENST00000583731.1_RNA	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	238					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)		GGTTTATTTTCTTTGGGTTTC	0.383			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.(712-714)Gaa>Taa		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							286	301	296					9																	20414132		2203	4300	6503	SO:0001587	stop_gained	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414132C>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.712G>T	9.37:g.20414132C>A	ENSP00000369695:p.Glu238*		Somatic				MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Nonsense_Mutation_p.E235*|MLLT3_ENST00000355930.6_5'UTR	p.E238*	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)	5	998	-			238					B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Nonsense_Mutation	SNP	ENST00000380338.4	37	c.712G>T	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	C	37	6.229918	0.97394	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.2643	19.7967	0.96487	0.0:1.0:0.0:0.0	.	.	.	.	X	238;235;277	.	ENSP00000369695:E238X	E	-	1	0	MLLT3	20404132	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.621000	0.83083	2.681000	0.91329	0.591000	0.81541	GAA		0.383	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		64	124	1	0	1.33661e-31	1	1.91338e-31	64	124					A	20414132	C	A	20414132	4	1	48	1	0	0	0	0	0	1	0	0	9637	922	32	2	1022	2	MLLT3	9	20414132	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	837138	20414132	120799299	2270	6738										
KIAA1797	54914	broad.mit.edu	37	chr9	20740310	20740310	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggaaggacaaggtggggaAaagaatattcagagtatata	13	2	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:20740310A>C	ENST00000380249.1	+	7	727	c.363A>C	c.(361-363)gaA>gaC	p.E121D	FOCAD_ENST00000338382.6_Missense_Mutation_p.E121D	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	121						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AAGGTGGGGAAAAGAATATTC	0.289																																						ENST00000380249.1																			0											c.(361-363)gaA>gaC		focadhesin							84	85	85					9																	20740310		2203	4299	6502	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20740310A>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.363A>C	9.37:g.20740310A>C	ENSP00000369599:p.Glu121Asp		Somatic				FOCAD_ENST00000338382.6_Missense_Mutation_p.E121D	p.E121D	NM_017794.3	NP_060264.3	WXS	Illumina GAIIx	Phase_I	Q5VW36	K1797_HUMAN			7	727	+			121					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.363A>C	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	A	5.305	0.241703	0.10077	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.23754	1.89;1.89	5.43	0.205	0.15204	Domain of unknown function DUF3730 (1);	0.485574	0.22147	N	0.063967	T	0.11750	0.0286	N	0.17082	0.46	0.26368	N	0.97694	B	0.09022	0.002	B	0.09377	0.004	T	0.19549	-1.0302	10	0.27082	T	0.32	-13.394	4.9733	0.14127	0.3878:0.0:0.4771:0.1351	.	121	Q5VW36	K1797_HUMAN	D	121	ENSP00000369599:E121D;ENSP00000344307:E121D	ENSP00000344307:E121D	E	+	3	2	KIAA1797	20730310	0.990000	0.36364	0.753000	0.31225	0.358000	0.29455	0.066000	0.14489	0.015000	0.14971	-0.337000	0.08149	GAA		0.289	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		19	34	0	0	0	1	0	19	34					C	20740310	A	C	20740310	3	2	48	1	0	0	0	0	1	0	0	0	8267	11	1	4	377	4	KIAA1797	9	20740310	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	326178	20740310	120473121	2271	6739										
IFNA7	3444	broad.mit.edu	37	chr9	21201822	21201822	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcttccaggtcattcagttGctggtaaagttcagtggaaa	11	7	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21201822G>A	ENST00000239347.3	-	1	382	c.343C>T	c.(343-345)Caa>Taa	p.Q115*		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	115					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|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)			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCATTCAGTTGCTGGTAAAGT	0.478																																						ENST00000239347.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12						c.(343-345)Caa>Taa		interferon, alpha 7							69	78	75					9																	21201822		2203	4297	6500	SO:0001587	stop_gained	3444				blood coagulation|cell-cell signaling|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.chr9:21201822G>A		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"Interferons"	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.343C>T	9.37:g.21201822G>A	ENSP00000239347:p.Gln115*		Somatic					p.Q115*	NM_021057.2	NP_066401.2	WXS	Illumina GAIIx	Phase_I	P01567	IFNA7_HUMAN		GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	382	-			115					Q14607|Q5VV14	Nonsense_Mutation	SNP	ENST00000239347.3	37	c.343C>T	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150265	0.37923	.	.	ENSG00000214042	ENST00000239347	.	.	.	3.71	1.79	0.24919	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.387	0.21566	0.1076:0.1858:0.7067:0.0	.	.	.	.	X	115	.	ENSP00000239347:Q115X	Q	-	1	0	IFNA7	21191822	0.002000	0.14202	0.001000	0.08648	0.005000	0.04900	0.724000	0.25954	0.194000	0.20326	0.586000	0.80456	CAA		0.478	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		59	100	0	0	0	1	0	59	100					A	21201822	G	A	21201822	4	1	48	1	0	0	0	0	0	1	0	0	7551	1328	46	3	230	3	IFNA7	9	21201822	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	461512	21201822	120011609	2272	6740										
KLHL9	55958	broad.mit.edu	37	chr9	21334077	21334077	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcacgcaggtattgtctgttCtcatgaaatctactgtctgc	8	10	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21334077C>T	ENST00000359039.4	-	1	1302	c.782G>A	c.(781-783)aGa>aAa	p.R261K	KLHL9_ENST00000537938.1_Missense_Mutation_p.R193K			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	261					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ATTGTCTGTTCTCATGAAATC	0.413																																						ENST00000359039.4																			0				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32						c.(781-783)aGa>aAa		kelch-like family member 9							134	123	127					9																	21334077		2203	4300	6503	SO:0001583	missense	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21334077C>T	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"Kelch-like", "BTB/POZ domain containing"	18732	protein-coding gene	gene with protein product		611201	"kelch-like 9 (Drosophila)"				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.782G>A	9.37:g.21334077C>T	ENSP00000351933:p.Arg261Lys		Somatic				KLHL9_ENST00000537938.1_Missense_Mutation_p.R193K	p.R261K			WXS	Illumina GAIIx	Phase_I	Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	1302	-			261					Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	c.782G>A	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	C	7.676	0.688087	0.14973	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.70164	-0.44;-0.46	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	L	0.46157	1.445	0.53688	D	0.999978	B	0.31351	0.32	B	0.32533	0.147	T	0.56111	-0.8033	10	0.17832	T	0.49	.	16.9779	0.86319	0.0:1.0:0.0:0.0	.	261	Q9P2J3	KLHL9_HUMAN	K	261;193	ENSP00000351933:R261K;ENSP00000437733:R193K	ENSP00000351933:R261K	R	-	2	0	KLHL9	21324077	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.408000	0.80041	2.688000	0.91661	0.650000	0.86243	AGA		0.413	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		24	56	0	0	0	1	0	24	56					T	21334077	C	T	21334077	3	4	48	1	0	0	0	0	1	0	0	0	8405	913	32	3	1075	3	KLHL9	9	21334077	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	132255	21334077	119879354	2273	6741										
IFNA2	3440	broad.mit.edu	37	chr9	21384820	21384820	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaaagaaaaagatctcatgAtttctgctctgacaacctcc	5	11	3	4	rs555011242		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21384820A>C	ENST00000380206.2	-	1	576	c.509T>G	c.(508-510)aTc>aGc	p.I170S		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	170					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	type I interferon receptor binding (GO:0005132)			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		AGATCTCATGATTTCTGCTCT	0.383																																						ENST00000380206.2																			0				breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13						c.(508-510)aTc>aGc		interferon, alpha 2	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						199	199	199					9																	21384820		2203	4300	6503	SO:0001583	missense	3440				blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|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.chr9:21384820A>C		CCDS6506.1	9p22	2010-08-24			ENSG00000188379	ENSG00000188379		"Interferons"	5423	protein-coding gene	gene with protein product	"alpha-2a interferon", "interferon alpha 2b", "interferon alpha A"	147562				1385305	Standard	NM_000605		Approved	IFNA, IFN-alphaA	uc003zpb.3	P01563	OTTHUMG00000019674	ENST00000380206.2:c.509T>G	9.37:g.21384820A>C	ENSP00000369554:p.Ile170Ser		Somatic					p.I170S	NM_000605.3	NP_000596.2	WXS	Illumina GAIIx	Phase_I	P01563	IFNA2_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	1	576	-			170					H2DF54|H2DF55|P01564|Q14606|Q6DJX8|Q96KI6	Missense_Mutation	SNP	ENST00000380206.2	37	c.509T>G	CCDS6506.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.886542	0.33348	.	.	ENSG00000188379	ENST00000380206	T	0.05025	3.51	3.09	0.589	0.17452	.	0.548020	0.19490	N	0.113013	T	0.26629	0.0651	H	0.94222	3.51	0.09310	N	1	D	0.61080	0.989	D	0.87578	0.998	T	0.11518	-1.0584	10	0.87932	D	0	.	3.0303	0.06104	0.6627:0.0:0.1254:0.2118	.	170	Q6DJX8	.	S	170	ENSP00000369554:I170S	ENSP00000369554:I170S	I	-	2	0	IFNA2	21374820	0.000000	0.05858	0.013000	0.15412	0.048000	0.14542	0.853000	0.27777	-0.069000	0.12931	0.397000	0.26171	ATC		0.383	IFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051903.1	NM_000605		81	141	0	0	0	1	0	81	141					C	21384820	A	C	21384820	3	2	48	1	0	0	0	0	1	0	0	0	7546	333	12	4	61	4	IFNA2	9	21384820	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	50743	21384820	119828611	2274	6742										
IFNA2	3440	broad.mit.edu	37	chr9	21384886	21384886	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttcagatagagagtgattCtttggaagtatttcctcaca	8	7	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21384886C>A	ENST00000380206.2	-	1	510	c.443G>T	c.(442-444)aGa>aTa	p.R148I		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	148					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	type I interferon receptor binding (GO:0005132)	p.R148I(1)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		GAGAGTGATTCTTTGGAAGTA	0.468																																						ENST00000380206.2																			1	Substitution - Missense(1)	p.R148I(1)	large_intestine(1)	breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13						c.(442-444)aGa>aTa		interferon, alpha 2	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						205	205	205					9																	21384886		2203	4300	6503	SO:0001583	missense	3440				blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|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.chr9:21384886C>A		CCDS6506.1	9p22	2010-08-24			ENSG00000188379	ENSG00000188379		"Interferons"	5423	protein-coding gene	gene with protein product	"alpha-2a interferon", "interferon alpha 2b", "interferon alpha A"	147562				1385305	Standard	NM_000605		Approved	IFNA, IFN-alphaA	uc003zpb.3	P01563	OTTHUMG00000019674	ENST00000380206.2:c.443G>T	9.37:g.21384886C>A	ENSP00000369554:p.Arg148Ile		Somatic					p.R148I	NM_000605.3	NP_000596.2	WXS	Illumina GAIIx	Phase_I	P01563	IFNA2_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	1	510	-			148					H2DF54|H2DF55|P01564|Q14606|Q6DJX8|Q96KI6	Missense_Mutation	SNP	ENST00000380206.2	37	c.443G>T	CCDS6506.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498628	0.64298	.	.	ENSG00000188379	ENST00000380206	T	0.51574	0.7	3.24	3.24	0.37175	.	0.318425	0.33631	N	0.004718	T	0.72875	0.3515	H	0.94542	3.55	0.20873	N	0.99984	D	0.60160	0.987	D	0.64687	0.928	T	0.67360	-0.5690	10	0.87932	D	0	.	11.4477	0.50134	0.0:1.0:0.0:0.0	.	148	Q6DJX8	.	I	148	ENSP00000369554:R148I	ENSP00000369554:R148I	R	-	2	0	IFNA2	21374886	0.001000	0.12720	0.048000	0.18961	0.509000	0.34042	1.217000	0.32455	1.648000	0.50643	0.484000	0.47621	AGA		0.468	IFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051903.1	NM_000605		84	155	1	0	2.0464e-58	1	2.97336e-58	84	155					A	21384886	C	A	21384886	3	1	48	1	0	0	0	0	1	0	0	0	7546	913	32	2	127	2	IFNA2	9	21384886	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	66	21384886	119828545	2275	6743										
MTAP	4507	broad.mit.edu	37	chr9	21815500	21815500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaagaactgaaaaatatgtGgatactccatttggcaaggt	11	5	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21815500G>A	ENST00000460874.2	+	2	378	c.153G>A	c.(151-153)gtG>gtA	p.V51V	RP11-145E5.5_ENST00000404796.2_Silent_p.V34V|MTAP_ENST00000427788.2_3'UTR|MTAP_ENST00000580900.1_Silent_p.V34V|MTAP_ENST00000380172.4_Silent_p.V34V					methylthioadenosine phosphorylase									p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)		AAAAATATGTGGATACTCCAT	0.323																																						ENST00000380172.4																			2	Whole gene deletion(2)	p.0(1)|p.0?(1)	lung(2)	central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10						c.(100-102)gtG>gtA		methylthioadenosine phosphorylase	Adenine(DB00173)						71	75	73					9																	21815500		2203	4300	6503	SO:0001819	synonymous_variant	4507				nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	g.chr9:21815500G>A	AB062485	CCDS6509.1	9p21	2013-05-29			ENSG00000099810	ENSG00000099810	2.4.2.28		7413	protein-coding gene	gene with protein product	"S-methyl-5'-thioadenosine phosphorylase"	156540				11126361	Standard	NM_002451		Approved	MSAP, c86fus	uc003zph.3	Q13126	OTTHUMG00000019690	ENST00000460874.2:c.153G>A	9.37:g.21815500G>A			Somatic				MTAP_ENST00000580900.1_Silent_p.V34V|MTAP_ENST00000460874.2_Silent_p.V51V|RP11-145E5.5_ENST00000404796.2_Silent_p.V34V|MTAP_ENST00000427788.2_3'UTR	p.V34V	NM_002451.3	NP_002442.2	WXS	Illumina GAIIx	Phase_I	Q13126	MTAP_HUMAN		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	2	308	+		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)	34						Silent	SNP	ENST00000460874.2	37	c.102G>A																																																																																					0.323	MTAP-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000051929.2	NM_002451		13	22	0	0	0	1	0	13	22					A	21815500	G	A	21815500	2	1	48	1	0	0	0	0	0	0	0	1	9920	1335	47	3		3	MTAP	9	21815500	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	430614	21815500	119397931	2276	6744										
CDKN2A	1029	broad.mit.edu	37	chr9	21974699	21974699	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggatcggcctccgaccgtaaCtattcggtgcgttgggcagc	14	12	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21974699C>A	ENST00000304494.5	-	1	398	c.128G>T	c.(127-129)aGt>aTt	p.S43I	CDKN2A_ENST00000498124.1_Missense_Mutation_p.S43I|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.S43I|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.S43I	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	43					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.S43I(6)|p.S43fs*76(1)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGACCGTAACTATTCGGTGC	0.687		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1347	Whole gene deletion(1316)|Unknown(23)|Substitution - Missense(6)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.0?(1315)|p.?(23)|p.S43I(6)|p.S43fs*76(1)|p.0(1)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(284)|skin(169)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(127-129)aGt>aTt		cyclin-dependent kinase inhibitor 2A							52	62	58					9																	21974699		2203	4300	6503	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974699C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.128G>T	9.37:g.21974699C>A	ENSP00000307101:p.Ser43Ile	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	Somatic				CDKN2A_ENST00000579122.1_Missense_Mutation_p.S43I|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.S43I|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.S43I|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron	p.S43I	NM_000077.4	NP_000068.1	WXS	Illumina GAIIx	Phase_I	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	398	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	43					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.128G>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501395	0.64298	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.78595	-1.19;-1.19	4.89	3.97	0.46021	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.76557	0.4004	L	0.58354	1.805	0.27852	N	0.940707	P;D	0.54601	0.77;0.967	B;P	0.49085	0.33;0.6	T	0.67260	-0.5715	9	0.34782	T	0.22	.	8.0458	0.30549	0.175:0.6419:0.183:0.0	.	43;43	P42771;G3XAG3	CD2A1_HUMAN;.	I	43	ENSP00000307101:S43I;ENSP00000394932:S43I	ENSP00000307101:S43I	S	-	2	0	CDKN2A	21964699	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-0.018000	0.12568	1.363000	0.46019	0.655000	0.94253	AGT		0.687	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		19	143	1	0	3.32936e-07	1	3.80431e-07	19	143					A	21974699	C	A	21974699	3	1	48	1	0	0	0	0	1	0	0	0	3163	565	20	5	555	5	CDKN2A	9	21974699	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	159199	21974699	119238732	2277	6745										
PLAA	9373	broad.mit.edu	37	chr9	26923230	26923230	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcagcattgatgtcccctaAatcgccagttttagaatcaa	6	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:26923230A>C	ENST00000397292.3	-	7	1402	c.985T>G	c.(985-987)Tta>Gta	p.L329V	PLAA_ENST00000520884.1_Missense_Mutation_p.L329V	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	329					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		ATGTCCCCTAAATCGCCAGTT	0.393																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(985-987)Tta>Gta		phospholipase A2-activating protein							190	171	177					9																	26923230		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26923230A>C	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"WD repeat domain containing"	9043	protein-coding gene	gene with protein product	"DOA1 homolog (S. cerevisiae)"	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.985T>G	9.37:g.26923230A>C	ENSP00000380460:p.Leu329Val		Somatic				PLAA_ENST00000520884.1_Missense_Mutation_p.L329V	p.L329V	NM_001031689.2	NP_001026859.1	WXS	Illumina GAIIx	Phase_I	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	7	1402	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	329					Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.985T>G	CCDS35000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.81|17.81	3.480285|3.480285	0.63849|0.63849	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000517642|ENST00000397292;ENST00000520884	.|T;T	.|0.53857	.|0.6;0.69	4.86|4.86	-0.222|-0.222	0.13122|0.13122	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.29850|0.29850	0.0746|0.0746	N|N	0.12637|0.12637	0.245|0.245	0.48696|0.48696	D|D	0.999697|0.999697	.|P;P	.|0.52577	.|0.954;0.533	.|P;B	.|0.47206	.|0.541;0.149	T|T	0.37798|0.37798	-0.9690|-0.9690	5|10	.|0.02654	.|T	.|1	-6.8671|-6.8671	9.1667|9.1667	0.37056|0.37056	0.6538:0.0:0.3462:0.0|0.6538:0.0:0.3462:0.0	.|.	.|329;329	.|E5RIM3;Q9Y263	.|.;PLAP_HUMAN	C|V	1|329	.|ENSP00000380460:L329V;ENSP00000429372:L329V	.|ENSP00000380460:L329V	F|L	-|-	2|1	0|2	PLAA|PLAA	26913230|26913230	0.996000|0.996000	0.38824|0.38824	0.945000|0.945000	0.38365|0.38365	0.988000|0.988000	0.76386|0.76386	1.881000|1.881000	0.39638|0.39638	-0.207000|-0.207000	0.10187|0.10187	0.533000|0.533000	0.62120|0.62120	TTT|TTA		0.393	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		4	83	0	0	0	1	0	4	83					C	26923230	A	C	26923230	3	2	48	1	0	0	0	0	1	0	0	0	12020	11	1	4	1434	4	PLAA	9	26923230	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	4948531	26923230	114290201	2278	6746										
TEK	7010	broad.mit.edu	37	chr9	27202911	27202911	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attggatggctattctatttCttctattactatccgttaca	5	8	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:27202911C>A	ENST00000380036.4	+	13	2445	c.2003C>A	c.(2002-2004)tCt>tAt	p.S668Y	TEK_ENST00000519097.1_Missense_Mutation_p.S521Y|TEK_ENST00000406359.4_Missense_Mutation_p.S625Y	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	668	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TATTCTATTTCTTCTATTACT	0.403																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2002-2004)tCt>tAt		TEK tyrosine kinase, endothelial							159	149	152					9																	27202911		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.chr9:27202911C>A	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.2003C>A	9.37:g.27202911C>A	ENSP00000369375:p.Ser668Tyr		Somatic				TEK_ENST00000406359.4_Missense_Mutation_p.S625Y|TEK_ENST00000519097.1_Missense_Mutation_p.S521Y	p.S668Y	NM_000459.3	NP_000450.2	WXS	Illumina GAIIx	Phase_I	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	13	2445	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	668			Fibronectin type-III 3.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.2003C>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566535	0.86439	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.17854	2.25;2.25;2.25	5.78	5.78	0.91487	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000106	T	0.33990	0.0882	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D	0.89917	0.997;0.999;0.999;1.0	D;D;D;D	0.91635	0.996;0.986;0.998;0.999	T	0.03981	-1.0987	10	0.72032	D	0.01	.	20.0222	0.97508	0.0:1.0:0.0:0.0	.	521;701;625;668	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	Y	521;668;625	ENSP00000430686:S521Y;ENSP00000369375:S668Y;ENSP00000383977:S625Y	ENSP00000369375:S668Y	S	+	2	0	TEK	27192911	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.395000	0.59678	2.732000	0.93576	0.637000	0.83480	TCT		0.403	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			29	59	1	0	3.73148e-12	1	4.68978e-12	29	59					A	27202911	C	A	27202911	3	1	48	1	0	0	0	0	1	0	0	0	15766	913	32	2	2053	2	TEK	9	27202911	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	279681	27202911	114010520	2279	6747										
TAF1L	138474	broad.mit.edu	37	chr9	32633900	32633900	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacacctgttttgcccaagaGaattcgactcttcttcagag	8	11	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:32633900G>T	ENST00000242310.4	-	1	1767	c.1678C>A	c.(1678-1680)Ctc>Atc	p.L560I	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	560					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)		TTGCCCAAGAGAATTCGACTC	0.448																																						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.(1678-1680)Ctc>Atc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							234	238	236					9																	32633900		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.chr9:32633900G>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.1678C>A	9.37:g.32633900G>T	ENSP00000418379:p.Leu560Ile		Somatic				RP11-555J4.4_ENST00000430787.1_RNA	p.L560I	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	1767	-			560					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1678C>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443420	0.43429	.	.	ENSG00000122728	ENST00000242310	T	0.07444	3.19	1.16	1.16	0.20824	.	0.000000	0.85682	D	0.000000	T	0.05686	0.0149	L	0.38175	1.15	0.43499	D	0.995744	P	0.37276	0.589	B	0.36378	0.223	T	0.43376	-0.9395	10	0.37606	T	0.19	.	4.0426	0.09758	0.2822:0.0:0.7178:0.0	.	560	Q8IZX4	TAF1L_HUMAN	I	560	ENSP00000418379:L560I	ENSP00000418379:L560I	L	-	1	0	TAF1L	32623900	1.000000	0.71417	0.987000	0.45799	0.514000	0.34195	2.870000	0.48451	0.507000	0.28148	0.195000	0.17529	CTC		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			14	207	1	0	3.27435e-08	1	3.83577e-08	14	207					T	32633900	G	T	32633900	3	4	48	1	0	0	0	0	1	0	0	0	15538	942	33	2	3806	2	TAF1L	9	32633900	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5430989	32633900	108579531	2280	6748										
DCAF12	25853	broad.mit.edu	37	chr9	34088497	34088497	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaagtaattcctccaggtttCatcatgattctacgggaaga	8	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:34088497C>A	ENST00000361264.4	-	9	1554	c.1213G>T	c.(1213-1215)Gaa>Taa	p.E405*	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	405					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CTCCAGGTTTCATCATGATTC	0.483																																						ENST00000361264.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						c.(1213-1215)Gaa>Taa		DDB1 and CUL4 associated factor 12							145	140	142					9																	34088497		2203	4300	6503	SO:0001587	stop_gained	25853					centrosome|CUL4 RING ubiquitin ligase complex		g.chr9:34088497C>A	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	19911	protein-coding gene	gene with protein product	"cancer/testis antigen 102"		"KIAA1892", "WD repeat domain 40A"	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.1213G>T	9.37:g.34088497C>A	ENSP00000355114:p.Glu405*		Somatic				RP11-537H15.3_ENST00000448245.1_RNA	p.E405*	NM_015397.3	NP_056212.1	WXS	Illumina GAIIx	Phase_I	Q5T6F0	DCA12_HUMAN			9	1554	-			405					A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Nonsense_Mutation	SNP	ENST00000361264.4	37	c.1213G>T	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	C	40	8.511611	0.98843	.	.	ENSG00000198876	ENST00000361264	.	.	.	5.11	5.11	0.69529	.	0.111799	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-7.948	18.532	0.90996	0.0:1.0:0.0:0.0	.	.	.	.	X	405	.	ENSP00000355114:E405X	E	-	1	0	DCAF12	34078497	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.330000	0.79181	2.374000	0.81015	0.655000	0.94253	GAA		0.483	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2	NM_015397		38	71	1	0	1.60099e-16	1	2.13174e-16	38	71					A	34088497	C	A	34088497	4	1	48	1	0	0	0	0	0	1	0	0	4265	835	29	2	152	2	DCAF12	9	34088497	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1454597	34088497	107124934	2281	6749										
UBAP1	51271	broad.mit.edu	37	chr9	34250704	34250704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agctttgtgagaagggcttcGaccctcttttagtggaagag	13	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:34250704G>A	ENST00000297661.4	+	6	1550	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N	UBAP1_ENST00000379186.4_Missense_Mutation_p.D378N|UBAP1_ENST00000545103.1_Missense_Mutation_p.D503N|UBAP1_ENST00000540348.1_Missense_Mutation_p.D439N|UBAP1_ENST00000536252.1_Missense_Mutation_p.D439N|UBAP1_ENST00000543944.1_Missense_Mutation_p.D475N|UBAP1_ENST00000359544.2_Missense_Mutation_p.D439N	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	439					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			GAAGGGCTTCGACCCTCTTTT	0.468																																					NSCLC(109;1074 1634 14978 20375 39620)	ENST00000536252.1																			0				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(1315-1317)Gac>Aac		ubiquitin associated protein 1							126	117	120					9																	34250704		2203	4300	6503	SO:0001583	missense	51271					cytoplasm		g.chr9:34250704G>A	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"ubiquitin associated protein"	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.1315G>A	9.37:g.34250704G>A	ENSP00000297661:p.Asp439Asn		Somatic				UBAP1_ENST00000543944.1_Missense_Mutation_p.D475N|UBAP1_ENST00000379186.4_Missense_Mutation_p.D378N|UBAP1_ENST00000545103.1_Missense_Mutation_p.D503N|UBAP1_ENST00000540348.1_Missense_Mutation_p.D439N|UBAP1_ENST00000297661.4_Missense_Mutation_p.D439N|UBAP1_ENST00000359544.2_Missense_Mutation_p.D439N	p.D439N	NM_001171203.2	NP_001164674.1	WXS	Illumina GAIIx	Phase_I	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		7	1713	+			439					B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	ENST00000297661.4	37	c.1315G>A	CCDS6550.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577433	0.86645	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000379186;ENST00000359544	T;T;T;T;T;T;T	0.52983	0.81;0.8;0.83;0.83;0.83;0.64;0.83	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.69006	0.3063	M	0.64997	1.995	0.80722	D	1	D;P;D;D	0.89917	1.0;0.922;1.0;1.0	D;B;D;D	0.97110	0.998;0.32;1.0;0.998	T	0.64651	-0.6357	10	0.48119	T	0.1	-15.3926	20.8794	0.99867	0.0:0.0:1.0:0.0	.	503;475;503;439	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	N	503;475;439;439;439;378;439	ENSP00000441024:D503N;ENSP00000439806:D475N;ENSP00000440456:D439N;ENSP00000439976:D439N;ENSP00000297661:D439N;ENSP00000368484:D378N;ENSP00000352541:D439N	ENSP00000297661:D439N	D	+	1	0	UBAP1	34240704	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	9.162000	0.94745	2.941000	0.99782	0.655000	0.94253	GAC		0.468	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1			21	47	0	0	0	1	0	21	47					A	34250704	G	A	34250704	3	1	48	1	0	0	0	0	1	0	0	0	16851	1058	37	1	1570	1	UBAP1	9	34250704	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	162207	34250704	106962727	2282	6750										
SIGMAR1	10280	broad.mit.edu	37	chr9	34637346	34637346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccactgcagctcctcgtcggGcagcacgtggcctgggtgca	14	15	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:34637346G>A	ENST00000277010.4	-	2	296	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	SIGMAR1_ENST00000477726.1_Missense_Mutation_p.P75S|SIGMAR1_ENST00000378892.1_5'UTR|SIGMAR1_ENST00000461426.1_5'UTR	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	75					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	TCCTCGTCGGGCAGCACGTGG	0.677																																						ENST00000277010.4																			0				large_intestine(1)|lung(1)	2						c.(223-225)Ccc>Tcc		sigma non-opioid intracellular receptor 1	Dextromethorphan(DB00514)						19	24	22					9																	34637346		2199	4297	6496	SO:0001583	missense	10280				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding	g.chr9:34637346G>A	BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"opioid receptor, sigma 1"	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.223C>T	9.37:g.34637346G>A	ENSP00000277010:p.Pro75Ser		Somatic				SIGMAR1_ENST00000477726.1_Missense_Mutation_p.P75S|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000378892.1_5'UTR	p.P75S	NM_005866.2	NP_005857.1	WXS	Illumina GAIIx	Phase_I	Q99720	SGMR1_HUMAN			2	296	-			75					D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Missense_Mutation	SNP	ENST00000277010.4	37	c.223C>T	CCDS6562.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669918	0.88348	.	.	ENSG00000147955	ENST00000277010;ENST00000477726	T;T	0.64438	-0.1;-0.1	4.8	3.86	0.44501	.	0.055057	0.64402	D	0.000001	T	0.65863	0.2732	L	0.56769	1.78	0.54753	D	0.99998	B;P;B;P	0.46859	0.136;0.885;0.316;0.86	B;P;B;P	0.51324	0.081;0.666;0.181;0.536	T	0.61372	-0.7076	10	0.18710	T	0.47	-30.9024	15.0641	0.71980	0.0:0.1553:0.8447:0.0	.	75;75;75;55	B4DR71;A2A3U5;Q99720;Q99720-2	.;.;SGMR1_HUMAN;.	S	75	ENSP00000277010:P75S;ENSP00000420022:P75S	ENSP00000277010:P75S	P	-	1	0	SIGMAR1	34627346	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.646000	0.83445	2.494000	0.84150	0.561000	0.74099	CCC		0.677	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052204.1	NM_005866		8	13	0	0	0	1	0	8	13					A	34637346	G	A	34637346	3	1	48	1	0	0	0	0	1	0	0	0	14331	1203	42	3	460	3	SIGMAR1	9	34637346	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	386642	34637346	106576085	2283	6751										
C9orf131	138724	broad.mit.edu	37	chr9	35044595	35044595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actctgtttcaaagtcccacGtaagtgagcctatcgcagac	8	12	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35044595G>A	ENST00000312292.5	+	2	2016	c.1969G>A	c.(1969-1971)Gta>Ata	p.V657I	C9orf131_ENST00000421362.2_Missense_Mutation_p.V609I|C9orf131_ENST00000354479.5_Missense_Mutation_p.V584I|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	657										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)			AAAGTCCCACGTAAGTGAGCC	0.527																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(1969-1971)Gta>Ata		chromosome 9 open reading frame 131							80	79	79					9																	35044595		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35044595G>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.1969G>A	9.37:g.35044595G>A	ENSP00000308279:p.Val657Ile		Somatic				C9orf131_ENST00000421362.2_Missense_Mutation_p.V609I|C9orf131_ENST00000354479.5_Missense_Mutation_p.V584I	p.V657I	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	2016	+	all_epithelial(49;0.22)		657					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.1969G>A	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	G	2.099	-0.406498	0.04832	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.13657	2.57;2.57;2.57	4.04	-4.8	0.03190	.	1.264020	0.05429	N	0.545621	T	0.03477	0.0100	N	0.02286	-0.61	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;0.001;0.001	T	0.34675	-0.9819	10	0.07325	T	0.83	-0.0406	1.9173	0.03300	0.3289:0.1507:0.3737:0.1468	.	132;657;584;609	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	I	609;584;657;132	ENSP00000393683:V609I;ENSP00000346472:V584I;ENSP00000308279:V657I	ENSP00000308279:V657I	V	+	1	0	C9orf131	35034595	0.000000	0.05858	0.067000	0.19924	0.371000	0.29859	-0.106000	0.10890	-0.953000	0.03645	-0.238000	0.12139	GTA		0.527	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		39	73	0	0	0	1	0	39	73					A	35044595	G	A	35044595	3	1	48	1	0	0	0	0	1	0	0	0	2459	1145	40	1	1991	1	C9orf131	9	35044595	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	407249	35044595	106168836	2284	6752										
VCP	7415	broad.mit.edu	37	chr9	35060826	35060826	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctcctgtagctcacgtttgAcatcctctaggcccccgatg	9	15	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35060826A>G	ENST00000358901.6	-	12	2349	c.1454T>C	c.(1453-1455)gTc>gCc	p.V485A		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	485					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)			CTCACGTTTGACATCCTCTAG	0.547																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1453-1455)gTc>gCc		valosin containing protein							170	141	151					9																	35060826		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.chr9:35060826A>G	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1454T>C	9.37:g.35060826A>G	ENSP00000351777:p.Val485Ala		Somatic					p.V485A	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)		12	2349	-			485					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.1454T>C	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.335669	0.81801	.	.	ENSG00000165280	ENST00000358901	D	0.94537	-3.45	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95037	0.8393	M	0.79926	2.475	0.80722	D	1	B	0.31174	0.311	B	0.37731	0.257	D	0.94036	0.7305	10	0.42905	T	0.14	-15.3742	15.9966	0.80256	1.0:0.0:0.0:0.0	.	485	P55072	TERA_HUMAN	A	485	ENSP00000351777:V485A	ENSP00000351777:V485A	V	-	2	0	VCP	35050826	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.179000	0.69175	0.460000	0.39030	GTC		0.547	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		37	90	0	0	0	1	0	37	90					G	35060826	A	G	35060826	3	3	48	1	0	0	0	0	1	0	0	0	17155	275	10	4	990	4	VCP	9	35060826	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	16231	35060826	106152605	2285	6753										
FANCG	2189	broad.mit.edu	37	chr9	35079490	35079490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccctccacaggtccaggcagCtggagcccacagaggtggtc	13	15	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35079490C>T	ENST00000378643.3	-	1	523	c.32G>A	c.(31-33)aGc>aAc	p.S11N	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	11					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)			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)			GTCCAGGCAGCTGGAGCCCAC	0.627			"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"			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28						c.(31-33)aGc>aAc	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group G							75	76	75					9																	35079490		2203	4300	6503	SO:0001583	missense	2189				cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35079490C>T	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.32G>A	9.37:g.35079490C>T	ENSP00000367910:p.Ser11Asn		Somatic					p.S11N	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)		1	523	-			11						Missense_Mutation	SNP	ENST00000378643.3	37	c.32G>A	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942581	0.53079	.	.	ENSG00000221829	ENST00000378643;ENST00000543657;ENST00000448890	T;T	0.78481	0.43;-1.18	4.96	1.04	0.20106	.	.	.	.	.	T	0.70850	0.3271	M	0.68317	2.08	0.25526	N	0.987327	B	0.12013	0.005	B	0.09377	0.004	T	0.55829	-0.8079	9	0.25106	T	0.35	-1.5716	7.1888	0.25814	0.0:0.6328:0.0:0.3672	.	11	O15287	FANCG_HUMAN	N	11	ENSP00000367910:S11N;ENSP00000409607:S11N	ENSP00000367910:S11N	S	-	2	0	FANCG	35069490	0.987000	0.35691	0.995000	0.50966	0.544000	0.35116	-0.063000	0.11655	0.091000	0.17302	-0.291000	0.09656	AGC		0.627	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		28	52	0	0	0	1	0	28	52					T	35079490	C	T	35079490	3	4	48	1	0	0	0	0	1	0	0	0	5676	797	28	3	1892	3	FANCG	9	35079490	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	18664	35079490	106133941	2286	6754										
NPR2	4882	broad.mit.edu	37	chr9	35807134	35807134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcattgtcagcagagagcacCcccatgcaggtgagagccat	12	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35807134C>T	ENST00000342694.2	+	17	2889	c.2634C>T	c.(2632-2634)acC>acT	p.T878T	SPAG8_ENST00000479751.1_5'Flank	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	878	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CAGAGAGCACCCCCATGCAGG	0.522																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(2632-2634)acC>acT		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						68	62	64					9																	35807134		2203	4300	6503	SO:0001819	synonymous_variant	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35807134C>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2634C>T	9.37:g.35807134C>T			Somatic					p.T878T	NM_003995.3	NP_003986.2	WXS	Illumina GAIIx	Phase_I	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		17	2889	+	all_epithelial(49;0.161)		878			Guanylate cyclase.		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	c.2634C>T	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	5.111	0.206092	0.09704	.	.	ENSG00000159899	ENST00000421267	.	.	.	6.17	4.34	0.51931	.	.	.	.	.	T	0.61388	0.2343	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57871	-0.7736	4	.	.	.	.	10.0096	0.41979	0.0:0.7827:0.0:0.2173	.	.	.	.	L	225	.	.	P	+	2	0	NPR2	35797134	0.730000	0.28100	1.000000	0.80357	0.999000	0.98932	-0.098000	0.11024	0.939000	0.37446	0.655000	0.94253	CCC		0.522	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			13	42	0	0	0	1	0	13	42					T	35807134	C	T	35807134	2	4	48	1	0	0	0	0	0	0	0	1	10604	610	22	3		3	NPR2	9	35807134	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	727644	35807134	105406297	2287	6755										
OR13J1	392309	broad.mit.edu	37	chr9	35869824	35869824	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaagtcttcgctgaccgacGtgttgccgcatgccagcttc	12	13	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35869824G>A	ENST00000377981.2	-	1	637	c.575C>T	c.(574-576)aCg>aTg	p.T192M		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGACCGACGTGTTGCCGCA	0.597																																						ENST00000377981.2																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(574-576)aCg>aTg		olfactory receptor, family 13, subfamily J, member 1							70	58	62					9																	35869824		2203	4300	6503	SO:0001583	missense	392309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35869824G>A		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"GPCR / Class A : Olfactory receptors"	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.575C>T	9.37:g.35869824G>A	ENSP00000367219:p.Thr192Met		Somatic					p.T192M	NM_001004487.1	NP_001004487.1	WXS	Illumina GAIIx	Phase_I	Q8NGT2	O13J1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		1	637	-	all_epithelial(49;0.169)		192					B2RN66|Q6IF20|Q96R40	Missense_Mutation	SNP	ENST00000377981.2	37	c.575C>T	CCDS35011.1	.	.	.	.	.	.	.	.	.	.	G	5.519	0.280702	0.10458	.	.	ENSG00000168828	ENST00000377981	T	0.00265	8.39	4.68	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.107278	0.41605	D	0.000842	T	0.00271	0.0008	M	0.86097	2.795	0.23192	N	0.998149	B	0.31611	0.331	B	0.32465	0.146	T	0.28106	-1.0054	10	0.72032	D	0.01	.	8.742	0.34562	0.2541:0.0:0.7459:0.0	.	192	Q8NGT2	O13J1_HUMAN	M	192	ENSP00000367219:T192M	ENSP00000367219:T192M	T	-	2	0	OR13J1	35859824	0.110000	0.22057	0.052000	0.19188	0.000000	0.00434	0.779000	0.26746	0.475000	0.27415	-0.827000	0.03088	ACG		0.597	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1			25	50	0	0	0	1	0	25	50					A	35869824	G	A	35869824	3	1	48	1	0	0	0	0	1	0	0	0	10953	1145	40	1	366	1	OR13J1	9	35869824	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	62690	35869824	105343607	2288	6756										
CCIN	881	broad.mit.edu	37	chr9	36169834	36169834	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgtggggctcagtatttcaAcacaccacgccttcgagttc	9	13	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:36169834A>G	ENST00000335119.2	+	1	446	c.335A>G	c.(334-336)aAc>aGc	p.N112S		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	112	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CAGTATTTCAACACACCACGC	0.527																																						ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(334-336)aAc>aGc		calicin							108	92	98					9																	36169834		2203	4300	6503	SO:0001583	missense	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36169834A>G	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.335A>G	9.37:g.36169834A>G	ENSP00000334996:p.Asn112Ser		Somatic					p.N112S	NM_005893.2	NP_005884.2	WXS	Illumina GAIIx	Phase_I	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	446	+			112			BTB.		Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	c.335A>G	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.730145	0.30684	.	.	ENSG00000185972	ENST00000335119	T	0.66815	-0.23	5.26	5.26	0.73747	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000014	T	0.53449	0.1797	L	0.33485	1.01	0.33506	D	0.590541	B	0.33826	0.427	B	0.28305	0.088	T	0.69064	-0.5244	10	0.87932	D	0	.	11.8391	0.52344	1.0:0.0:0.0:0.0	.	112	Q13939	CALI_HUMAN	S	112	ENSP00000334996:N112S	ENSP00000334996:N112S	N	+	2	0	CCIN	36159834	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.830000	0.39131	2.118000	0.64928	0.379000	0.24179	AAC		0.527	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		25	44	0	0	0	1	0	25	44					G	36169834	A	G	36169834	3	3	48	1	0	0	0	0	1	0	0	0	2880	43	2	4	337	4	CCIN	9	36169834	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	300010	36169834	105043597	2289	6757										
FRMPD1	22844	broad.mit.edu	37	chr9	37737115	37737115	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgactttgctgctggaatCcaacagtgcaaaagacctag	9	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:37737115C>T	ENST00000539465.1	+	14	2017	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.S297F|FRMPD1_ENST00000541302.1_Missense_Mutation_p.S344F|FRMPD1_ENST00000377765.3_Missense_Mutation_p.S475F			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	475	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					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)		CTGCTGGAATCCAACAGTGCA	0.458																																						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.(1423-1425)tCc>tTc		FERM and PDZ domain containing 1							144	130	135					9																	37737115		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37737115C>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1424C>T	9.37:g.37737115C>T	ENSP00000444411:p.Ser475Phe		Somatic				FRMPD1_ENST00000377765.3_Missense_Mutation_p.S475F|FRMPD1_ENST00000541302.1_Missense_Mutation_p.S344F|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.S297F	p.S475F			WXS	Illumina GAIIx	Phase_I	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	14	2017	+			475			FERM.		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.1424C>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552430	0.86127	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.45	5.45	0.79879	FERM domain (1);	0.059939	0.64402	D	0.000001	T	0.32376	0.0827	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.963;0.985	T	0.01504	-1.1338	10	0.87932	D	0	-19.2891	16.7758	0.85550	0.0:1.0:0.0:0.0	.	344;475	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	F	475;475;297;344	ENSP00000366995:S475F;ENSP00000444411:S475F;ENSP00000437762:S297F;ENSP00000444804:S344F	ENSP00000366995:S475F	S	+	2	0	FRMPD1	37727115	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.196000	0.58407	2.557000	0.86248	0.591000	0.81541	TCC		0.458	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		32	59	0	0	0	1	0	32	59					T	37737115	C	T	37737115	3	4	48	1	0	0	0	0	1	0	0	0	6065	855	30	3	1474	3	FRMPD1	9	37737115	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1567281	37737115	103476316	2290	6758										
FRMPD1	22844	broad.mit.edu	37	chr9	37745053	37745053	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaagaaccaaccatagagcaTggagacagctccttctccct	7	13	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:37745053T>C	ENST00000539465.1	+	16	3617	c.3024T>C	c.(3022-3024)caT>caC	p.H1008H	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.H1008H			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1008						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)		CCATAGAGCATGGAGACAGCT	0.532																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(3022-3024)caT>caC		FERM and PDZ domain containing 1							95	96	96					9																	37745053		2203	4300	6503	SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745053T>C	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.3024T>C	9.37:g.37745053T>C			Somatic				FRMPD1_ENST00000377765.3_Silent_p.H1008H|RP11-613M10.9_ENST00000540557.1_Intron	p.H1008H			WXS	Illumina GAIIx	Phase_I	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	3617	+			1008					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.3024T>C	CCDS6612.1																																																																																				0.532	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		29	130	0	0	0	1	0	29	130					C	37745053	T	C	37745053	2	2	48	1	0	0	0	0	0	0	0	1	6065	1461	51	4		4	FRMPD1	9	37745053	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	7938	37745053	103468378	2291	6759										
CNTNAP3	79937	broad.mit.edu	37	chr9	39140537	39140537	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtcatattgcagtacacaaGaaatggtcccagggggccac	11	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:39140537G>T	ENST00000297668.6	-	12	1928	c.1855C>A	c.(1855-1857)Ctt>Att	p.L619I	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.L619I|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.L619I|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.L531I|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.L526I	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	619	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAGTACACAAGAAATGGTCCC	0.433																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1855-1857)Ctt>Att		contactin associated protein-like 3							54	63	60					9																	39140537		2203	4300	6503	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39140537G>T	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1855C>A	9.37:g.39140537G>T	ENSP00000297668:p.Leu619Ile		Somatic				CNTNAP3_ENST00000377659.1_Missense_Mutation_p.L619I|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.L619I|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.L526I|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.L531I	p.L619I	NM_033655.3	NP_387504.2	WXS	Illumina GAIIx	Phase_I	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	12	1928	-			619			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.1855C>A	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561897	0.27915	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81	2.85	1.93	0.25924	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (5);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	T	0.15522	0.0374	M	0.81341	2.54	0.09310	N	1	P;B;P;P;B	0.51791	0.948;0.417;0.529;0.793;0.241	P;B;B;B;B	0.46362	0.514;0.176;0.355;0.36;0.147	T	0.16394	-1.0404	9	0.19147	T	0.46	.	5.3117	0.15833	0.1236:0.2083:0.6681:0.0	.	526;619;619;619;619	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	I	619;619;531;526;619	ENSP00000297668:L619I;ENSP00000366884:L619I;ENSP00000350863:L531I;ENSP00000320728:L526I;ENSP00000366887:L619I	ENSP00000297668:L619I	L	-	1	0	CNTNAP3	39130537	0.371000	0.25056	0.052000	0.19188	0.964000	0.63967	3.433000	0.52834	0.524000	0.28502	0.440000	0.28878	CTT		0.433	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		26	51	1	0	2.79863e-10	1	3.42475e-10	26	51					T	39140537	G	T	39140537	3	4	48	1	0	0	0	0	1	0	0	0	3650	942	33	2	2063	2	CNTNAP3	9	39140537	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1395484	39140537	102072894	2292	6760										
ZNF658	26149	broad.mit.edu	37	chr9	40772234	40772234	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttctcccctgtgtgaattCtctggtgtactctgagagtt	10	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:40772234C>A	ENST00000602553.1	-	5	3335	c.3041G>T	c.(3040-3042)aGa>aTa	p.R1014I	ZNF658_ENST00000377626.3_Missense_Mutation_p.R1014I|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	1014					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)		TGTGTGAATTCTCTGGTGTAC	0.443																																						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.(3040-3042)aGa>aTa		zinc finger protein 658							15	24	21					9																	40772234		1526	3758	5284	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40772234C>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.3041G>T	9.37:g.40772234C>A	ENSP00000473484:p.Arg1014Ile		Somatic				ZNF658_ENST00000377626.3_Missense_Mutation_p.R1014I|ZNF658_ENST00000441795.1_Intron	p.R1014I			WXS	Illumina GAIIx	Phase_I	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	3335	-			1014					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.3041G>T	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	15.63	2.891279	0.52014	.	.	ENSG00000196409	ENST00000377626	T	0.24908	1.83	2.05	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38401	0.1039	L	0.46885	1.475	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	T	0.18777	-1.0326	9	0.52906	T	0.07	.	10.1869	0.43002	0.0:1.0:0.0:0.0	.	1014	Q5TYW1	ZN658_HUMAN	I	1014	ENSP00000366853:R1014I	ENSP00000366853:R1014I	R	-	2	0	ZNF658	40762234	0.000000	0.05858	0.792000	0.32020	0.993000	0.82548	0.180000	0.16860	1.487000	0.48415	0.518000	0.50308	AGA		0.443	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		38	84	1	0	1.62263e-30	1	2.3181e-30	38	84					A	40772234	C	A	40772234	3	1	48	1	0	0	0	0	1	0	0	0	18084	913	32	2	142	2	ZNF658	9	40772234	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1631697	40772234	100441197	2293	6761										
ZNF658	26149	broad.mit.edu	37	chr9	40774078	40774078	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggggcctctgatgctgaatGaggtgtgctttccggtaaaa	14	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:40774078G>T	ENST00000602553.1	-	5	1491	c.1197C>A	c.(1195-1197)ctC>ctA	p.L399L	ZNF658_ENST00000377626.3_Silent_p.L399L|ZNF658_ENST00000441795.1_Silent_p.L397L			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	399					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)		GATGCTGAATGAGGTGTGCTT	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.(1195-1197)ctC>ctA		zinc finger protein 658							224	223	224					9																	40774078		2203	4300	6503	SO:0001819	synonymous_variant	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774078G>T	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1197C>A	9.37:g.40774078G>T			Somatic				ZNF658_ENST00000377626.3_Silent_p.L399L|ZNF658_ENST00000441795.1_Silent_p.L397L	p.L399L			WXS	Illumina GAIIx	Phase_I	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	1491	-			399					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Silent	SNP	ENST00000602553.1	37	c.1197C>A	CCDS35023.1																																																																																				0.403	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		63	306	1	0	3.56336e-21	1	4.91459e-21	63	306					T	40774078	G	T	40774078	2	4	48	1	0	0	0	0	0	0	0	1	18084	1277	45	2		2	ZNF658	9	40774078	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1844	40774078	100439353	2294	6762										
PIP5K1B	8395	broad.mit.edu	37	chr9	71491678	71491678	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagcattccgatatttcagaGaactttttggtatcaagcct	7	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:71491678G>T	ENST00000265382.3	+	6	591	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	PIP5K1B_ENST00000541509.1_Nonsense_Mutation_p.E96*	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	96	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		ATATTTCAGAGAACTTTTTGG	0.383																																						ENST00000265382.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(286-288)Gaa>Taa		phosphatidylinositol-4-phosphate 5-kinase, type I, beta							117	115	115					9																	71491678		2203	4300	6503	SO:0001587	stop_gained	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71491678G>T	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.286G>T	9.37:g.71491678G>T	ENSP00000265382:p.Glu96*		Somatic				PIP5K1B_ENST00000541509.1_Nonsense_Mutation_p.E96*	p.E96*	NM_003558.2	NP_003549.1	WXS	Illumina GAIIx	Phase_I	O14986	PI51B_HUMAN		Lung(182;0.133)	6	591	+			96			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Nonsense_Mutation	SNP	ENST00000265382.3	37	c.286G>T	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	G	38	6.730783	0.97796	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747;ENST00000377284;ENST00000437200;ENST00000440050	.	.	.	5.68	5.68	0.88126	.	0.046776	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.4334	19.7855	0.96434	0.0:0.0:1.0:0.0	.	.	.	.	X	96;96;96;43;96;96;96	.	ENSP00000265382:E96X	E	+	1	0	PIP5K1B	70681498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.607000	0.98328	2.698000	0.92095	0.585000	0.79938	GAA		0.383	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		11	51	1	0	0.000673444	1	0.000709932	11	51					T	71491678	G	T	71491678	4	4	48	1	0	0	0	0	0	1	0	0	11949	943	33	2	296	2	PIP5K1B	9	71491678	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	30717600	71491678	69721753	2295	6763										
GDA	9615	broad.mit.edu	37	chr9	74817652	74817652	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcagaagaagtatataccagAgttgtcgtaagtatcttgtg	11	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:74817652A>G	ENST00000358399.3	+	3	471	c.378A>G	c.(376-378)agA>agG	p.R126R	GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Silent_p.R52R|GDA_ENST00000238018.4_Silent_p.R126R|GDA_ENST00000376989.3_Silent_p.R101R|GDA_ENST00000376986.1_Silent_p.R84R	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	126					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TATATACCAGAGTTGTCGTAA	0.398																																						ENST00000358399.3																			0				central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(376-378)agA>agG		guanine deaminase							209	191	197					9																	74817652		2203	4300	6503	SO:0001819	synonymous_variant	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74817652A>G	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.378A>G	9.37:g.74817652A>G			Somatic				GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Silent_p.R84R|GDA_ENST00000545168.1_Silent_p.R52R|GDA_ENST00000376989.3_Silent_p.R101R|GDA_ENST00000238018.4_Silent_p.R126R	p.R126R	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	WXS	Illumina GAIIx	Phase_I	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	3	471	+		Myeloproliferative disorder(762;0.0122)	126					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Silent	SNP	ENST00000358399.3	37	c.378A>G	CCDS6641.1																																																																																				0.398	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			11	113	0	0	0	1	0	11	113					G	74817652	A	G	74817652	2	3	48	1	0	0	0	0	0	0	0	1	6314	301	11	4		4	GDA	9	74817652	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	3325974	74817652	66395779	2296	6764										
ZFAND5	7763	broad.mit.edu	37	chr9	74975687	74975687	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccggggtctggttagtctccTgagccatatttttctgctat	10	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:74975687T>G	ENST00000237937.3	-	2	565	c.8A>C	c.(7-9)cAg>cCg	p.Q3P	ZFAND5_ENST00000376960.4_Missense_Mutation_p.Q3P|ZFAND5_ENST00000343431.2_Missense_Mutation_p.Q3P|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376962.5_Missense_Mutation_p.Q3P	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	3					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)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						GTTAGTCTCCTGAGCCATATT	0.388																																						ENST00000237937.3																			0				cervix(1)|kidney(2)|lung(2)|prostate(1)	6						c.(7-9)cAg>cCg		zinc finger, AN1-type domain 5							79	85	83					9																	74975687		2203	4299	6502	SO:0001583	missense	0						DNA binding|zinc ion binding	g.chr9:74975687T>G	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.8A>C	9.37:g.74975687T>G	ENSP00000237937:p.Gln3Pro		Somatic				ZFAND5_ENST00000376960.4_Missense_Mutation_p.Q3P|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376962.5_Missense_Mutation_p.Q3P|ZFAND5_ENST00000343431.2_Missense_Mutation_p.Q3P	p.Q3P	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			2	565	-			3					A8K484	Missense_Mutation	SNP	ENST00000237937.3	37	c.8A>C	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.156289	0.78114	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.81098	0.4752	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.84442	0.0583	9	0.87932	D	0	-3.8455	16.0469	0.80725	0.0:0.0:0.0:1.0	.	3	O76080	ZFAN5_HUMAN	P	3;3;3;3;55	.	ENSP00000237937:Q3P	Q	-	2	0	ZFAND5	74165507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.194000	0.70268	0.460000	0.39030	CAG		0.388	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1			5	99	0	0	0	1	0	5	99					G	74975687	T	G	74975687	3	3	48	1	0	0	0	0	1	0	0	0	17645	1580	55	4	653	4	ZFAND5	9	74975687	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	158035	74975687	66237744	2297	6765										
TMC1	117531	broad.mit.edu	37	chr9	75445593	75445593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caagaaaatggcagctgcacGagcaggttggagatacgttt	13	7	0	2	rs191912512		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:75445593G>A	ENST00000297784.5	+	23	2795	c.2255G>A	c.(2254-2256)cGa>cAa	p.R752Q	TMC1_ENST00000340019.3_Missense_Mutation_p.R752Q|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.R752Q	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	752	Poly-Ala.				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						GCAGCTGCACGAGCAGGTTGG	0.323													G|||	1	0.000199681	0	0	5008	,	,		14423	0.001		0	False		,,,				2504	0				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.(2254-2256)cGa>cAa		transmembrane channel-like 1							78	87	84					9																	75445593		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75445593G>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.2255G>A	9.37:g.75445593G>A	ENSP00000297784:p.Arg752Gln		Somatic				TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.R752Q|TMC1_ENST00000340019.3_Missense_Mutation_p.R752Q	p.R752Q	NM_138691.2	NP_619636.2	WXS	Illumina GAIIx	Phase_I	Q8TDI8	TMC1_HUMAN			23	2795	+			752			Poly-Ala.		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.2255G>A	CCDS6643.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.00	3.277679	0.59758	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000537917;ENST00000542143;ENST00000396237	T;T;T	0.67523	-0.27;-0.27;-0.27	5.07	5.07	0.68467	.	0.214725	0.31601	N	0.007364	T	0.40979	0.1139	N	0.21194	0.64	0.25521	N	0.987362	P	0.49253	0.921	B	0.34489	0.184	T	0.49679	-0.8914	10	0.02654	T	1	-3.8772	11.4237	0.49998	0.0821:0.0:0.9179:0.0	.	752	Q8TDI8	TMC1_HUMAN	Q	752;752;719;746;752	ENSP00000297784:R752Q;ENSP00000341433:R752Q;ENSP00000379538:R752Q	ENSP00000297784:R752Q	R	+	2	0	TMC1	74635413	1.000000	0.71417	0.968000	0.41197	0.931000	0.56810	3.979000	0.56888	2.790000	0.95986	0.650000	0.86243	CGA		0.323	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			9	17	0	0	0	1	0	9	17					A	75445593	G	A	75445593	3	1	48	1	0	0	0	0	1	0	0	0	15999	1058	37	1	2329	1	TMC1	9	75445593	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	469906	75445593	65767838	2298	6766										
ALDH1A1	216	broad.mit.edu	37	chr9	75545819	75545819	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcagcagacgatctctttcGattaaatcagccaacttgta	7	10	2	1	rs376026961		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:75545819G>A	ENST00000297785.3	-	3	342	c.288C>T	c.(286-288)atC>atT	p.I96I	ALDH1A1_ENST00000376939.1_Silent_p.I96I|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	96					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)	p.I96I(1)|p.I110I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	GATCTCTTTCGATTAAATCAG	0.483																																						ENST00000297785.3																			2	Substitution - coding silent(2)	p.I96I(1)|p.I110I(1)	endometrium(2)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17						c.(286-288)atC>atT		aldehyde dehydrogenase 1 family, member A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	G		0,4406		0,0,2203	102	99	100		288	-2.7	0.8	9		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ALDH1A1	NM_000689.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		96/502	75545819	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75545819G>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.288C>T	9.37:g.75545819G>A			Somatic				ALDH1A1_ENST00000376939.1_Silent_p.I96I|ALDH1A1_ENST00000482210.1_5'UTR	p.I96I	NM_000689.4	NP_000680.2	WXS	Illumina GAIIx	Phase_I	P00352	AL1A1_HUMAN			3	342	-			96					O00768|Q5SYR1	Silent	SNP	ENST00000297785.3	37	c.288C>T	CCDS6644.1																																																																																				0.483	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			36	69	0	0	0	1	0	36	69					A	75545819	G	A	75545819	2	1	48	1	0	0	0	0	0	0	0	1	490	1048	37	1		1	ALDH1A1	9	75545819	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	100226	75545819	65667612	2299	6767										
RORB	6096	broad.mit.edu	37	chr9	77275552	77275552	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaccgaattgcacagaacatCattaagtcccatttggagac	8	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:77275552C>A	ENST00000396204.2	+	5	690	c.690C>A	c.(688-690)atC>atA	p.I230I	RORB_ENST00000376896.3_Silent_p.I219I			Q92753	RORB_HUMAN	RAR-related orphan receptor B	230	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	CACAGAACATCATTAAGTCCC	0.378																																						ENST00000376896.2																			0				breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(655-657)atC>atA		RAR-related orphan receptor B							139	138	138					9																	77275552		2203	4300	6503	SO:0001819	synonymous_variant	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77275552C>A	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"Nuclear hormone receptors"	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.690C>A	9.37:g.77275552C>A			Somatic				RORB_ENST00000396204.2_Silent_p.I230I	p.I219I	NM_006914.3	NP_008845.2	WXS	Illumina GAIIx	Phase_I	Q92753	RORB_HUMAN			5	1269	+			230			Hinge (Potential).		Q8WX73	Silent	SNP	ENST00000396204.2	37	c.657C>A																																																																																					0.378	RORB-201	KNOWN	basic	protein_coding	protein_coding				39	67	1	0	1.04594e-18	1	1.41924e-18	39	67					A	77275552	C	A	77275552	2	1	48	1	0	0	0	0	0	0	0	1	13544	816	29	2		2	RORB	9	77275552	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1729733	77275552	63937879	2300	6768										
PRUNE2	158471	broad.mit.edu	37	chr9	79318459	79318459	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggctgactggaccagaggcTtcctctagtgccaaagattc	11	11	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:79318459T>G	ENST00000376718.3	-	9	8193	c.8070A>C	c.(8068-8070)gaA>gaC	p.E2690D	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E2331D	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2690					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						GACCAGAGGCTTCCTCTAGTG	0.552																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(6991-6993)gaA>gaC		prune homolog 2 (Drosophila)							78	71	73					9																	79318459		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79318459T>G	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.8070A>C	9.37:g.79318459T>G	ENSP00000365908:p.Glu2690Asp		Somatic				PRUNE2_ENST00000376718.3_Missense_Mutation_p.E2690D	p.E2331D			WXS	Illumina GAIIx	Phase_I	Q8WUY3	PRUN2_HUMAN			9	8193	-			2690					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.6993A>C	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.05|12.05	1.821209|1.821209	0.32237|0.32237	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.47869|.	0.83;0.83|.	5.93|5.93	0.877|0.877	0.19145|0.19145	.|.	0.322570|.	0.26836|.	N|.	0.022257|.	T|T	0.42810|0.42810	0.1219|0.1219	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.21606|.	0.045;0.058|.	B;B|.	0.21151|.	0.033;0.014|.	T|T	0.34825|0.34825	-0.9813|-0.9813	10|5	0.59425|.	D|.	0.04|.	-9.0078|-9.0078	5.7969|5.7969	0.18392|0.18392	0.0:0.3219:0.1454:0.5326|0.0:0.3219:0.1454:0.5326	.|.	2690;2690|.	Q8WUY3-3;Q8WUY3|.	.;PRUN2_HUMAN|.	D|R	2690;2331;2689|2012	ENSP00000365908:E2690D;ENSP00000397425:E2331D|.	ENSP00000365908:E2690D|.	E|S	-|-	3|1	2|0	PRUNE2|PRUNE2	78508279|78508279	0.848000|0.848000	0.29623|0.29623	0.028000|0.028000	0.17463|0.17463	0.968000|0.968000	0.65278|0.65278	0.532000|0.532000	0.23067|0.23067	0.153000|0.153000	0.19213|0.19213	0.482000|0.482000	0.46254|0.46254	GAA|AGC		0.552	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		31	43	0	0	0	1	0	31	43					G	79318459	T	G	79318459	3	3	48	1	0	0	0	0	1	0	0	0	12653	1606	56	4	1240	4	PRUNE2	9	79318459	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2042907	79318459	61894972	2301	6769										
PRUNE2	158471	broad.mit.edu	37	chr9	79324748	79324748	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttgggtgcaaattccaggtAttttttaaagcttcatcatg	9	6	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:79324748A>C	ENST00000376718.3	-	8	2565	c.2442T>G	c.(2440-2442)aaT>aaG	p.N814K	PRUNE2_ENST00000428286.1_Missense_Mutation_p.N455K	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	814					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						AATTCCAGGTATTTTTTAAAG	0.478																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(1363-1365)aaT>aaG		prune homolog 2 (Drosophila)							49	45	46					9																	79324748		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79324748A>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2442T>G	9.37:g.79324748A>C	ENSP00000365908:p.Asn814Lys		Somatic				PRUNE2_ENST00000376718.3_Missense_Mutation_p.N814K	p.N455K			WXS	Illumina GAIIx	Phase_I	Q8WUY3	PRUN2_HUMAN			8	2565	-			814					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.1365T>G	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.304|6.304	0.424198|0.424198	0.11928|0.11928	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.20332|.	2.08;2.08|.	5.65|5.65	-3.25|-3.25	0.05079|0.05079	.|.	0.377447|.	0.22800|.	N|.	0.055486|.	T|T	0.35422|0.35422	0.0931|0.0931	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	B|.	0.17465|.	0.022|.	B|.	0.17433|.	0.018|.	T|T	0.17930|0.17930	-1.0353|-1.0353	10|5	0.45353|.	T|.	0.12|.	-9.1965|-9.1965	6.6972|6.6972	0.23205|0.23205	0.439:0.3544:0.2066:0.0|0.439:0.3544:0.2066:0.0	.|.	814|.	Q8WUY3|.	PRUN2_HUMAN|.	K|D	814;455;813|136	ENSP00000365908:N814K;ENSP00000397425:N455K|.	ENSP00000365908:N814K|.	N|Y	-|-	3|1	2|0	PRUNE2|PRUNE2	78514568|78514568	0.112000|0.112000	0.22096|0.22096	0.990000|0.990000	0.47175|0.47175	0.522000|0.522000	0.34438|0.34438	0.049000|0.049000	0.14099|0.14099	-0.166000|-0.166000	0.10890|0.10890	0.379000|0.379000	0.24179|0.24179	AAT|TAC		0.478	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		10	23	0	0	0	1	0	10	23					C	79324748	A	C	79324748	3	2	48	1	0	0	0	0	1	0	0	0	12653	446	16	4	6872	4	PRUNE2	9	79324748	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	6289	79324748	61888683	2302	6770										
PRUNE2	158471	broad.mit.edu	37	chr9	79520871	79520871	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatttggcgcgttgcaaaaaTtcttccatgtcgtggctagg	12	8	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:79520871T>C	ENST00000376718.3	-	1	132	c.9A>G	c.(7-9)gaA>gaG	p.E3E	PRUNE2_ENST00000376713.3_Silent_p.E3E|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	3					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						GTTGCAAAAATTCTTCCATGT	0.557																																						ENST00000376718.3																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(7-9)gaA>gaG		prune homolog 2 (Drosophila)							130	116	121					9																	79520871		2203	4300	6503	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79520871T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.9A>G	9.37:g.79520871T>C			Somatic				PRUNE2_ENST00000376713.3_Silent_p.E3E|PRUNE2_ENST00000428286.1_5'UTR	p.E3E	NM_015225.2	NP_056040.2	WXS	Illumina GAIIx	Phase_I	Q8WUY3	PRUN2_HUMAN			1	132	-			3					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.9A>G	CCDS47982.1																																																																																				0.557	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		35	48	0	0	0	1	0	35	48					C	79520871	T	C	79520871	2	2	48	1	0	0	0	0	0	0	0	1	12653	1490	52	4		4	PRUNE2	9	79520871	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	196123	79520871	61692560	2303	6771										
TLE4	7091	broad.mit.edu	37	chr9	82191078	82191078	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtcctatgggttgaatataGaaatgcacaagcaggtaagt	11	5	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:82191078G>T	ENST00000376552.2	+	4	1256	c.238G>T	c.(238-240)Gaa>Taa	p.E80*	TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000265284.6_Nonsense_Mutation_p.E80*|TLE4_ENST00000376520.4_Nonsense_Mutation_p.E80*|TLE4_ENST00000376544.3_Nonsense_Mutation_p.E80*|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Nonsense_Mutation_p.E80*	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	80	Gln-rich (Q domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GTTGAATATAGAAATGCACAA	0.303																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(238-240)Gaa>Taa		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							115	113	114					9																	82191078		1820	4072	5892	SO:0001587	stop_gained	7091							g.chr9:82191078G>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.238G>T	9.37:g.82191078G>T	ENSP00000365735:p.Glu80*		Somatic				TLE4_ENST00000376544.3_Nonsense_Mutation_p.E80*|TLE4_ENST00000265284.6_Nonsense_Mutation_p.E80*|TLE4_ENST00000376552.2_Nonsense_Mutation_p.E80*|TLE4_ENST00000376537.4_Nonsense_Mutation_p.E80*|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376534.4_5'UTR	p.E80*			WXS	Illumina GAIIx	Phase_I	O60756	BCE1_HUMAN			4	1066	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Nonsense_Mutation	SNP	ENST00000376552.2	37	c.238G>T	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	G	38	7.175853	0.98114	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000399288;ENST00000435650;ENST00000376537;ENST00000265284;ENST00000425506;ENST00000428713	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.535	20.3172	0.98658	0.0:0.0:1.0:0.0	.	.	.	.	X	80;80;80;80;80;80;80;78;65	.	ENSP00000265284:E80X	E	+	1	0	TLE4	81380898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.806000	0.99153	2.801000	0.96364	0.650000	0.86243	GAA		0.303	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		23	41	1	0	3.28513e-13	1	4.19729e-13	23	41					T	82191078	G	T	82191078	4	4	48	1	0	0	0	0	0	1	0	0	15956	943	33	2	252	2	TLE4	9	82191078	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2670207	82191078	59022353	2304	6772										
RASEF	158158	broad.mit.edu	37	chr9	85611950	85611950	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatcatatctacccattctcGtatgttaagaaagcttttct	4	9	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:85611950G>A	ENST00000376447.3	-	14	2157	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	633					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACCCATTCTCGTATGTTAAGA	0.373																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1897-1899)Cga>Tga		RAS and EF-hand domain containing							160	147	151					9																	85611950		2203	4300	6503	SO:0001587	stop_gained	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85611950G>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.1897C>T	9.37:g.85611950G>A	ENSP00000365630:p.Arg633*		Somatic					p.R633*	NM_152573.2	NP_689786.2	WXS	Illumina GAIIx	Phase_I	Q8IZ41	RASEF_HUMAN			14	2157	-			633					A6NC29|Q96N04	Nonsense_Mutation	SNP	ENST00000376447.3	37	c.1897C>T	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	G	40	8.317961	0.98757	.	.	ENSG00000165105	ENST00000376447	.	.	.	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2908	0.60270	0.0:0.0:0.7372:0.2627	.	.	.	.	X	633	.	ENSP00000365630:R633X	R	-	1	2	RASEF	84801770	0.996000	0.38824	0.978000	0.43139	0.830000	0.47004	2.309000	0.43699	2.681000	0.91329	0.563000	0.77884	CGA		0.373	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		11	26	0	0	0	1	0	11	26					A	85611950	G	A	85611950	4	1	48	1	0	0	0	0	0	1	0	0	13083	1153	40	1	341	1	RASEF	9	85611950	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3420872	85611950	55601481	2305	6773										
KIF27	55582	broad.mit.edu	37	chr9	86465162	86465162	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccagaactttcattttcatTtcttcattatataactgttg	3	8	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:86465162T>G	ENST00000297814.2	-	16	3551	c.3408A>C	c.(3406-3408)gaA>gaC	p.E1136D	RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000608866.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.E1039D|RP11-575L7.4_ENST00000589817.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.E1070D	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1136					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						TCATTTTCATTTCTTCATTAT	0.383																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(3406-3408)gaA>gaC		kinesin family member 27							103	95	98					9																	86465162		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86465162T>G	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.3408A>C	9.37:g.86465162T>G	ENSP00000297814:p.Glu1136Asp		Somatic				RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.E1070D|RP11-575L7.4_ENST00000589817.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.E1039D|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA	p.E1136D	NM_017576.1	NP_060046.1	WXS	Illumina GAIIx	Phase_I	Q86VH2	KIF27_HUMAN			16	3551	-			1136					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.3408A>C	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.536633	0.45176	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.75704	-0.96;-0.95;-0.85	4.58	0.864	0.19068	.	0.095927	0.43416	N	0.000567	T	0.67739	0.2925	M	0.70595	2.14	0.19575	N	0.999965	B;B;B	0.18863	0.031;0.01;0.001	B;B;B	0.21708	0.036;0.017;0.002	T	0.61372	-0.7076	10	0.72032	D	0.01	.	4.9963	0.14242	0.0:0.1755:0.1543:0.6701	.	1039;1070;1136	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	D	1136;1070;1039	ENSP00000297814:E1136D;ENSP00000401688:E1070D;ENSP00000333928:E1039D	ENSP00000297814:E1136D	E	-	3	2	KIF27	85654982	1.000000	0.71417	0.880000	0.34516	0.964000	0.63967	0.621000	0.24418	-0.008000	0.14320	0.358000	0.22013	GAA		0.383	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		14	46	0	0	0	1	0	14	46					G	86465162	T	G	86465162	3	3	48	1	0	0	0	0	1	0	0	0	8305	1838	64	4	809	4	KIF27	9	86465162	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	853212	86465162	54748269	2306	6774										
NAA35	60560	broad.mit.edu	37	chr9	88590040	88590040	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttttctaggcatgctaaaaGatgtggaggatgacatgcaa	11	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:88590040G>T	ENST00000361671.5	+	8	728	c.595G>T	c.(595-597)Gat>Tat	p.D199Y	NAA35_ENST00000376040.1_Missense_Mutation_p.D199Y	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	199					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						CATGCTAAAAGATGTGGAGGA	0.294																																						ENST00000361671.5																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						c.(595-597)Gat>Tat		N(alpha)-acetyltransferase 35, NatC auxiliary subunit							193	196	195					9																	88590040		2203	4300	6503	SO:0001583	missense	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88590040G>T	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"N(alpha)-acetyltransferase subunits"	24340	protein-coding gene	gene with protein product			"MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.595G>T	9.37:g.88590040G>T	ENSP00000354972:p.Asp199Tyr		Somatic				NAA35_ENST00000376040.1_Missense_Mutation_p.D199Y	p.D199Y	NM_024635.3	NP_078911.3	WXS	Illumina GAIIx	Phase_I	Q5VZE5	NAA35_HUMAN			8	728	+			199					Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	c.595G>T	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556810	0.86231	.	.	ENSG00000135040	ENST00000361671;ENST00000376040	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	N	0.22421	0.69	0.80722	D	1	P;D	0.60575	0.947;0.988	B;P	0.51101	0.36;0.659	T	0.62191	-0.6906	9	0.87932	D	0	-18.3852	20.1379	0.98040	0.0:0.0:1.0:0.0	.	199;199	Q5VZE6;Q5VZE5	.;NAA35_HUMAN	Y	199	.	ENSP00000354972:D199Y	D	+	1	0	NAA35	87779860	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.002000	0.76304	2.779000	0.95612	0.655000	0.94253	GAT		0.294	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		18	36	1	0	8.34094e-07	1	9.42356e-07	18	36					T	88590040	G	T	88590040	3	4	48	1	0	0	0	0	1	0	0	0	10132	942	33	2	621	2	NAA35	9	88590040	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2124878	88590040	52623391	2307	6775										
NAA35	60560	broad.mit.edu	37	chr9	88622302	88622302	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggtggataacaaaaaggtCtttggaactcatctcatgca	9	8	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:88622302C>A	ENST00000361671.5	+	14	1279	c.1146C>A	c.(1144-1146)gtC>gtA	p.V382V		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	382					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						ACAAAAAGGTCTTTGGAACTC	0.383																																						ENST00000361671.5																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						c.(1144-1146)gtC>gtA		N(alpha)-acetyltransferase 35, NatC auxiliary subunit							179	175	177					9																	88622302		2203	4300	6503	SO:0001819	synonymous_variant	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88622302C>A	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"N(alpha)-acetyltransferase subunits"	24340	protein-coding gene	gene with protein product			"MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1146C>A	9.37:g.88622302C>A			Somatic					p.V382V	NM_024635.3	NP_078911.3	WXS	Illumina GAIIx	Phase_I	Q5VZE5	NAA35_HUMAN			14	1279	+			382					Q5VZE6|Q9H631|Q9H703	Silent	SNP	ENST00000361671.5	37	c.1146C>A	CCDS6673.1																																																																																				0.383	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		7	100	1	0	0.00307968	1	0.00320271	7	100					A	88622302	C	A	88622302	2	1	48	1	0	0	0	0	0	0	0	1	10132	900	32	2		2	NAA35	9	88622302	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	32262	88622302	52591129	2308	6776										
ZCCHC6	79670	broad.mit.edu	37	chr9	88955947	88955947	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaacattcttgaacaagtaAgaggacatctggctgagaca	9	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:88955947A>C	ENST00000375963.3	-	7	1280	c.1108T>G	c.(1108-1110)Tta>Gta	p.L370V	ZCCHC6_ENST00000375948.1_Missense_Mutation_p.L8V|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.L370V	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	370					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						TGAACAAGTAAGAGGACATCT	0.313																																						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.(1108-1110)Tta>Gta		zinc finger, CCHC domain containing 6							101	106	104					9																	88955947		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88955947A>C	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.1108T>G	9.37:g.88955947A>C	ENSP00000365130:p.Leu370Val		Somatic				ZCCHC6_ENST00000375948.1_Missense_Mutation_p.L8V|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.L370V|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Intron	p.L370V			WXS	Illumina GAIIx	Phase_I	Q5VYS8	TUT7_HUMAN			7	1322	-			370					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.1108T>G	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.177288	0.57692	.	.	ENSG00000083223	ENST00000375961;ENST00000375963;ENST00000375948	T;T;T	0.38560	1.13;1.13;1.13	5.16	2.8	0.32819	.	0.000000	0.64402	D	0.000001	T	0.51109	0.1655	L	0.59436	1.845	0.39966	D	0.974722	D;D;D	0.71674	0.998;0.996;0.959	D;D;P	0.68765	0.96;0.922;0.631	T	0.51356	-0.8716	10	0.10111	T	0.7	-21.2361	9.54	0.39246	0.8563:0.0:0.1437:0.0	.	370;370;370	Q5VYS8-5;Q5VYS8-2;Q5VYS8	.;.;TUT7_HUMAN	V	370;370;8	ENSP00000365128:L370V;ENSP00000365130:L370V;ENSP00000365115:L8V	ENSP00000365115:L8V	L	-	1	2	ZCCHC6	88145767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.299000	0.33424	0.426000	0.26116	0.482000	0.46254	TTA		0.313	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		14	52	0	0	0	1	0	14	52					C	88955947	A	C	88955947	3	2	48	1	0	0	0	0	1	0	0	0	17607	69	3	4	3463	4	ZCCHC6	9	88955947	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	333645	88955947	52257484	2309	6777										
C9orf170	401535	broad.mit.edu	37	chr9	89771500	89771500	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctataggttctgtttctcCggaaaaccctgactaataca	6	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:89771500C>T	ENST00000375941.2	+	2	268	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	61										large_intestine(3)|lung(2)|prostate(1)	6						tctgtttctccggaaaaccct	0.378																																						ENST00000375941.2																			0				large_intestine(3)|lung(2)|prostate(1)	6						c.(181-183)Cgg>Tgg		chromosome 9 open reading frame 170							24	23	24					9																	89771500		2203	4294	6497	SO:0001583	missense	401535							g.chr9:89771500C>T	AK127445	CCDS35058.1	9q21.33	2009-02-11			ENSG00000204446	ENSG00000204446			33817	protein-coding gene	gene with protein product							Standard	NM_001001709		Approved	FLJ45537	uc004apa.1	A2RU37	OTTHUMG00000159587	ENST00000375941.2:c.181C>T	9.37:g.89771500C>T	ENSP00000365108:p.Arg61Trp		Somatic					p.R61W	NM_001001709.2	NP_001001709.1	WXS	Illumina GAIIx	Phase_I	A2RU37	CI170_HUMAN			2	268	+			61						Missense_Mutation	SNP	ENST00000375941.2	37	c.181C>T	CCDS35058.1	.	.	.	.	.	.	.	.	.	.	C	0.302	-0.973350	0.02215	.	.	ENSG00000204446	ENST00000375941	.	.	.	1.17	-0.102	0.13613	.	.	.	.	.	T	0.16342	0.0393	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20638	-1.0269	8	0.87932	D	0	.	3.2715	0.06883	0.0:0.2676:0.0:0.7324	.	61	A2RU37	CI170_HUMAN	W	61	.	ENSP00000365108:R61W	R	+	1	2	C9orf170	88961320	0.005000	0.15991	0.002000	0.10522	0.002000	0.02628	0.023000	0.13533	-0.061000	0.13110	-0.355000	0.07637	CGG		0.378	C9orf170-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356346.1	NM_001001709		6	8	0	0	0	1	0	6	8					T	89771500	C	T	89771500	3	4	48	1	0	0	0	0	1	0	0	0	2471	643	23	1	187	1	C9orf170	9	89771500	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	815553	89771500	51441931	2310	6778										
FAM75C1	441452	broad.mit.edu	37	chr9	90535331	90535331	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttagcttccccggatcctcGaaccaagcatcctcaggatc	8	15	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:90535331G>A	ENST00000602681.1	+	0	1235							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCGGATCCTCGAACCAAGCAT	0.592																																						ENST00000602681.1																			0																				41	49	46					9																	90535331		692	1591	2283			0							g.chr9:90535331G>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535331G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	1235	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.592	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		96	169	0	0	0	1	0	96	169					A	90535331	G	A	90535331	1	1	48	0	1	0	0	0	0	0	0	0	5631	1058	37	1		1	FAM75C1	9	90535331	RNA	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	763831	90535331	50678100	2311	6779										
SPIN1	10927	broad.mit.edu	37	chr9	91090060	91090060	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggtaggcaaacaagtggaAtatgccaaagaagatggctc	12	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:91090060A>C	ENST00000375859.3	+	6	935	c.657A>C	c.(655-657)gaA>gaC	p.E219D	SPIN1_ENST00000541629.1_Missense_Mutation_p.E219D|SPIN1_ENST00000469017.2_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	219	Tudor-like domain 3.				chromatin modification (GO:0016568)|gamete generation (GO:0007276)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of Wnt signaling pathway (GO:0030177)|rRNA transcription (GO:0009303)|Wnt signaling pathway (GO:0016055)	nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle (GO:0005819)	methylated histone binding (GO:0035064)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						AACAAGTGGAATATGCCAAAG	0.393																																						ENST00000375859.3																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(655-657)gaA>gaC		spindlin 1							76	81	79					9																	91090060		2180	4295	6475	SO:0001583	missense	10927				cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding	g.chr9:91090060A>C	AF317228	CCDS43843.1	9q22.1	2008-02-05	2007-01-03	2007-01-03	ENSG00000106723	ENSG00000106723			11243	protein-coding gene	gene with protein product		609936	"spindlin"	SPIN		16098913	Standard	NM_006717		Approved		uc004apy.3	Q9Y657	OTTHUMG00000020168	ENST00000375859.3:c.657A>C	9.37:g.91090060A>C	ENSP00000365019:p.Glu219Asp		Somatic				SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.E219D	p.E219D	NM_006717.2	NP_006708.2	WXS	Illumina GAIIx	Phase_I	Q9Y657	SPIN1_HUMAN			6	935	+			219					A8K0X6|B3KRQ4|Q7KZJ8|Q9GZT2|Q9H0N7	Missense_Mutation	SNP	ENST00000375859.3	37	c.657A>C	CCDS43843.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049993	0.75846	.	.	ENSG00000106723	ENST00000375859;ENST00000541629	T;T	0.51325	0.71;0.71	5.54	4.41	0.53225	.	0.051356	0.85682	N	0.000000	T	0.58864	0.2152	L	0.43152	1.355	0.58432	D	0.999998	D	0.76494	0.999	D	0.81914	0.995	T	0.60944	-0.7162	10	0.87932	D	0	-14.6122	11.3392	0.49523	0.9298:0.0:0.0702:0.0	.	219	Q9Y657	SPIN1_HUMAN	D	219	ENSP00000365019:E219D;ENSP00000441864:E219D	ENSP00000365019:E219D	E	+	3	2	SPIN1	90279880	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.925000	0.56484	1.129000	0.42072	0.533000	0.62120	GAA		0.393	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052967.1	NM_006717		17	45	0	0	0	1	0	17	45					C	91090060	A	C	91090060	3	2	48	1	0	0	0	0	1	0	0	0	15067	98	4	4	675	4	SPIN1	9	91090060	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	554729	91090060	50123371	2312	6780										
NFIL3	4783	broad.mit.edu	37	chr9	94171927	94171927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcactatgcttttcgagttCgaaatgtcttttagatgtca	9	7	2	1	rs34945709		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:94171927C>T	ENST00000297689.3	-	2	1484	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	364					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						TTTTCGAGTTCGAAATGTCTT	0.408																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(1090-1092)Gaa>Aaa		nuclear factor, interleukin 3 regulated							159	152	155					9																	94171927		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.chr9:94171927C>T	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.1090G>A	9.37:g.94171927C>T	ENSP00000297689:p.Glu364Lys		Somatic					p.E364K	NM_005384.2	NP_005375.2	WXS	Illumina GAIIx	Phase_I	Q16649	NFIL3_HUMAN			2	1484	-			364					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.1090G>A	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421835	0.43020	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.97	4.97	0.65823	Vertebrate interleukin-3 regulated transcription factor (1);	0.446939	0.21451	N	0.074332	T	0.36991	0.0987	L	0.44542	1.39	0.22666	N	0.998876	P	0.41159	0.74	B	0.38327	0.271	T	0.40232	-0.9574	9	0.59425	D	0.04	-8.455	14.0725	0.64868	0.0:0.8495:0.1505:0.0	rs34945709	364	Q16649	NFIL3_HUMAN	K	364	.	ENSP00000297689:E364K	E	-	1	0	NFIL3	93211748	0.998000	0.40836	0.034000	0.17996	0.743000	0.42351	2.886000	0.48578	2.594000	0.87642	0.561000	0.74099	GAA		0.408	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		48	91	0	0	0	1	0	48	91					T	94171927	C	T	94171927	3	4	48	1	0	0	0	0	1	0	0	0	10382	893	31	1	302	1	NFIL3	9	94171927	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3081867	94171927	47041504	2313	6781										
NFIL3	4783	broad.mit.edu	37	chr9	94172299	94172299	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttttgatagatggacgctgTgtaagagcctcggtcatctc	12	8	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:94172299T>C	ENST00000297689.3	-	2	1112	c.718A>G	c.(718-720)Aca>Gca	p.T240A		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	240					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						ATGGACGCTGTGTAAGAGCCT	0.488																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(718-720)Aca>Gca		nuclear factor, interleukin 3 regulated							127	127	127					9																	94172299		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.chr9:94172299T>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.718A>G	9.37:g.94172299T>C	ENSP00000297689:p.Thr240Ala		Somatic					p.T240A	NM_005384.2	NP_005375.2	WXS	Illumina GAIIx	Phase_I	Q16649	NFIL3_HUMAN			2	1112	-			240					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	c.718A>G	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	T	0.949	-0.707098	0.03230	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.65	-4.86	0.03132	Vertebrate interleukin-3 regulated transcription factor (1);	1.183400	0.06237	N	0.689728	T	0.15565	0.0375	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21861	-1.0233	9	0.27785	T	0.31	-0.652	5.6188	0.17446	0.0785:0.1026:0.2408:0.5781	.	240	Q16649	NFIL3_HUMAN	A	240	.	ENSP00000297689:T240A	T	-	1	0	NFIL3	93212120	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.268000	0.08607	-0.710000	0.05001	-0.441000	0.05720	ACA		0.488	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		26	56	0	0	0	1	0	26	56					C	94172299	T	C	94172299	3	2	48	1	0	0	0	0	1	0	0	0	10382	1696	59	4	674	4	NFIL3	9	94172299	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	372	94172299	47041132	2314	6782										
SPTLC1	10558	broad.mit.edu	37	chr9	94874756	94874756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttgactgtaagatcagatCgttcttgtaatttgtaagtc	8	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:94874756C>T	ENST00000262554.2	-	2	151	c.146G>A	c.(145-147)cGa>cAa	p.R49Q	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.R49Q	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	49					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)	AAGATCAGATCGTTCTTGTAA	0.363																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(145-147)cGa>cAa		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						107	109	108					9																	94874756		2203	4299	6502	SO:0001583	missense	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94874756C>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.146G>A	9.37:g.94874756C>T	ENSP00000262554:p.Arg49Gln		Somatic				SPTLC1_ENST00000337841.4_Missense_Mutation_p.R49Q|SPTLC1_ENST00000482632.1_5'UTR	p.R49Q	NM_006415.2	NP_006406.1	WXS	Illumina GAIIx	Phase_I	O15269	SPTC1_HUMAN			2	151	-			49					A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	c.146G>A	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020430	0.54576	.	.	ENSG00000090054	ENST00000262554;ENST00000337841	T;T	0.69306	-0.39;-0.39	4.55	4.55	0.56014	Pyridoxal phosphate-dependent transferase, major domain (1);	0.064896	0.64402	D	0.000020	T	0.60235	0.2253	L	0.55481	1.735	0.50813	D	0.999898	B;P;P;B	0.44986	0.067;0.847;0.688;0.047	B;B;B;B	0.36567	0.018;0.228;0.157;0.012	T	0.65421	-0.6172	10	0.40728	T	0.16	-13.3301	16.5824	0.84717	0.0:1.0:0.0:0.0	.	49;49;44;49	Q6NUL7;Q96IX6;Q59EQ4;O15269	.;.;.;SPTC1_HUMAN	Q	49	ENSP00000262554:R49Q;ENSP00000337635:R49Q	ENSP00000262554:R49Q	R	-	2	0	SPTLC1	93914577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.865000	0.39479	2.517000	0.84864	0.650000	0.86243	CGA		0.363	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		6	19	0	0	0	1	0	6	19					T	94874756	C	T	94874756	3	4	48	1	0	0	0	0	1	0	0	0	15138	884	31	1	1340	1	SPTLC1	9	94874756	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	702457	94874756	46338675	2315	6783										
ASPN	54829	broad.mit.edu	37	chr9	95237107	95237107	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagcatcatattcttcagtgCgatgtgtgaagggctaaaga	11	7	3	2	rs146516859		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:95237107C>T	ENST00000375544.3	-	2	316	c.73G>A	c.(73-75)Gca>Aca	p.A25T	ASPN_ENST00000395538.3_Missense_Mutation_p.A25T|ASPN_ENST00000450139.2_5'UTR|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Missense_Mutation_p.A25T	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	25					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						TTCTTCAGTGCGATGTGTGAA	0.423																																						ENST00000375544.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(73-75)Gca>Aca		asporin		C	,THR/ALA,THR/ALA	0,4406		0,0,2203	79	82	81		,73,73	0	0	9	dbSNP_134	81	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense,missense	ASPN,CENPP	NM_001012267.1,NM_001193335.1,NM_017680.4	,58,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,benign,benign	,25/244,25/381	95237107	2,13004	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.chr9:95237107C>T	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.73G>A	9.37:g.95237107C>T	ENSP00000364694:p.Ala25Thr		Somatic				ASPN_ENST00000395538.3_Missense_Mutation_p.A25T|ASPN_ENST00000450139.2_5'UTR|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Missense_Mutation_p.A25T	p.A25T	NM_017680.4	NP_060150.4	WXS	Illumina GAIIx	Phase_I	Q9BXN1	ASPN_HUMAN			2	316	-			25					Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP	ENST00000375544.3	37	c.73G>A		.	.	.	.	.	.	.	.	.	.	C	1.547	-0.540323	0.04053	0.0	2.33E-4	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538	T;T;T	0.53640	0.61;0.69;0.62	5.12	8.5E-4	0.14044	.	0.599517	0.17891	N	0.158526	T	0.25827	0.0629	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.10154	-1.0642	10	0.36615	T	0.2	.	4.4306	0.11525	0.1404:0.3209:0.0:0.5387	.	25;25	Q5TBF2;Q9BXN1	.;ASPN_HUMAN	T	25	ENSP00000364694:A25T;ENSP00000364693:A25T;ENSP00000378909:A25T	ENSP00000364693:A25T	A	-	1	0	ASPN	94276928	0.050000	0.20438	0.000000	0.03702	0.002000	0.02628	1.071000	0.30666	-0.167000	0.10871	-0.302000	0.09304	GCA		0.423	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		17	21	0	0	0	1	0	17	21					T	95237107	C	T	95237107	3	4	48	1	0	0	0	0	1	0	0	0	1057	768	27	1	1097	1	ASPN	9	95237107	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	362351	95237107	45976324	2316	6784										
ZNF484	83744	broad.mit.edu	37	chr9	95608521	95608521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taattctaactagatagaagAaagttggccttggtcacctt	8	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:95608521A>G	ENST00000375495.3	-	5	2696	c.2548T>C	c.(2548-2550)Tct>Cct	p.S850P	ZNF484_ENST00000395506.3_Missense_Mutation_p.S852P|ZNF484_ENST00000332591.6_Missense_Mutation_p.S814P|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.S814P	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	850					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						TAGATAGAAGAAAGTTGGCCT	0.423																																						ENST00000395505.2																			0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(2440-2442)Tct>Cct		zinc finger protein 484							131	126	127					9																	95608521		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95608521A>G	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.2548T>C	9.37:g.95608521A>G	ENSP00000364645:p.Ser850Pro		Somatic				ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.S814P|ZNF484_ENST00000375495.3_Missense_Mutation_p.S850P|ZNF484_ENST00000395506.3_Missense_Mutation_p.S852P	p.S814P	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	WXS	Illumina GAIIx	Phase_I	Q5JVG2	ZN484_HUMAN			3	2532	-			850					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.2440T>C	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	9.746	1.166133	0.21621	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07021	3.23;3.37;3.39;3.23	2.49	-0.0277	0.13925	.	.	.	.	.	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.40534	-0.9558	9	0.59425	D	0.04	.	3.1083	0.06350	0.656:0.0:0.1334:0.2106	.	852;850	B4DRI2;Q5JVG2	.;ZN484_HUMAN	P	814;852;850;814	ENSP00000378881:S814P;ENSP00000378882:S852P;ENSP00000364645:S850P;ENSP00000364646:S814P	ENSP00000364646:S814P	S	-	1	0	ZNF484	94648342	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.032000	0.12266	-0.020000	0.14032	0.523000	0.50628	TCT		0.423	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		33	62	0	0	0	1	0	33	62					G	95608521	A	G	95608521	3	3	48	1	0	0	0	0	1	0	0	0	17952	246	9	4	14	4	ZNF484	9	95608521	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	371414	95608521	45604910	2317	6785										
SUSD3	203328	broad.mit.edu	37	chr9	95840161	95840161	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgagacctttggcttcaaggTggccgtgatcgcctccattg	12	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:95840161T>C	ENST00000375472.3	+	3	347	c.311T>C	c.(310-312)gTg>gCg	p.V104A	SUSD3_ENST00000375469.1_Missense_Mutation_p.V91A	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	104						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						GGCTTCAAGGTGGCCGTGATC	0.597																																						ENST00000375472.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						c.(310-312)gTg>gCg		sushi domain containing 3							204	136	159					9																	95840161		2203	4300	6503	SO:0001583	missense	203328					integral to membrane		g.chr9:95840161T>C	AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.311T>C	9.37:g.95840161T>C	ENSP00000364621:p.Val104Ala		Somatic				SUSD3_ENST00000375469.1_Missense_Mutation_p.V91A	p.V104A	NM_145006.2	NP_659443.1	WXS	Illumina GAIIx	Phase_I	Q96L08	SUSD3_HUMAN			3	347	+			104					Q49AA6|Q6UXV7	Missense_Mutation	SNP	ENST00000375472.3	37	c.311T>C	CCDS6701.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.595703	0.66219	.	.	ENSG00000157303	ENST00000375472;ENST00000375469	T;T	0.68765	-0.35;0.05	5.56	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.66790	0.2825	M	0.68317	2.08	0.48185	D	0.999605	P;P	0.48503	0.897;0.911	P;B	0.45558	0.485;0.433	T	0.69602	-0.5101	10	0.87932	D	0	-21.3172	9.9087	0.41392	0.0:0.0809:0.0:0.9191	.	91;104	Q96L08-2;Q96L08	.;SUSD3_HUMAN	A	104;91	ENSP00000364621:V104A;ENSP00000364618:V91A	ENSP00000364618:V91A	V	+	2	0	SUSD3	94879982	1.000000	0.71417	0.998000	0.56505	0.528000	0.34623	6.463000	0.73530	1.058000	0.40530	0.459000	0.35465	GTG		0.597	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053120.1	NM_145006		23	54	0	0	0	1	0	23	54					C	95840161	T	C	95840161	3	2	48	1	0	0	0	0	1	0	0	0	15424	1696	59	4	321	4	SUSD3	9	95840161	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	231640	95840161	45373270	2318	6786										
PTCH1	5727	broad.mit.edu	37	chr9	98244436	98244436	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgatccatgtaacctgtttCtgtgataagctctcctgatt	7	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:98244436C>A	ENST00000331920.6	-	4	933	c.634G>T	c.(634-636)Gaa>Taa	p.E212*	PTCH1_ENST00000421141.1_Nonsense_Mutation_p.E61*|PTCH1_ENST00000468211.2_Nonsense_Mutation_p.E146*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.E146*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.E61*|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000430669.2_Nonsense_Mutation_p.E146*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.E61*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.E211*	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	212					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.E212fs*40(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TAACCTGTTTCTGTGATAAGC	0.363																																						ENST00000430669.2																			1	Insertion - Frameshift(1)	p.E212fs*40(1)	bone(1)	NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(436-438)Gaa>Taa		patched 1							108	104	105					9																	98244436		2203	4300	6503	SO:0001587	stop_gained	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98244436C>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.634G>T	9.37:g.98244436C>A	ENSP00000332353:p.Glu212*		Somatic				PTCH1_ENST00000418258.1_Nonsense_Mutation_p.E61*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.E61*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.E211*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.E61*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.E146*|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000468211.2_Nonsense_Mutation_p.E146*|PTCH1_ENST00000331920.6_Nonsense_Mutation_p.E212*	p.E146*			WXS	Illumina GAIIx	Phase_I	Q13635	PTC1_HUMAN			4	1021	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	212					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Nonsense_Mutation	SNP	ENST00000331920.6	37	c.436G>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	38	6.782934	0.97833	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000553011;ENST00000551845;ENST00000547672;ENST00000546820;ENST00000468211;ENST00000551630	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-22.0054	20.4388	0.99107	0.0:1.0:0.0:0.0	.	.	.	.	X	212;146;61;61;146;61;211;61;61;61;61;146;61	.	ENSP00000332353:E212X	E	-	1	0	PTCH1	97284257	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.459000	0.80802	2.836000	0.97738	0.655000	0.94253	GAA		0.363	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		18	26	1	0	6.49762e-13	1	8.24929e-13	18	26					A	98244436	C	A	98244436	4	1	48	1	0	0	0	0	0	1	0	0	12742	922	32	2	3789	2	PTCH1	9	98244436	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2404275	98244436	42968995	2319	6787										
C9orf102	375748	broad.mit.edu	37	chr9	98684594	98684594	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttctggttacagaccaattCtcatggtgaaacagtgaaaa	8	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:98684594C>A	ENST00000288985.7	+	8	1645	c.1340C>A	c.(1339-1341)tCt>tAt	p.S447Y	ERCC6L2_ENST00000437817.1_Missense_Mutation_p.S258Y|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	447					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										CAGACCAATTCTCATGGTGAA	0.368																																						ENST00000288985.7																			0											c.(1339-1341)tCt>tAt		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							78	71	73					9																	98684594		2203	4300	6503	SO:0001583	missense	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98684594C>A	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"chromosome 9 open reading frame 102", "excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1340C>A	9.37:g.98684594C>A	ENSP00000288985:p.Ser447Tyr		Somatic				ERCC6L2_ENST00000437817.1_Missense_Mutation_p.S258Y|ERCC6L2_ENST00000466840.1_3'UTR	p.S447Y	NM_001010895.2	NP_001010895.1	WXS	Illumina GAIIx	Phase_I	Q5T890	RAD26_HUMAN			8	1645	+			447					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	c.1340C>A	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783154	0.31593	.	.	ENSG00000182150	ENST00000405401;ENST00000288985;ENST00000437817	D;D	0.93547	-3.24;-3.24	4.76	4.76	0.60689	SNF2-related (1);	0.918202	0.09052	N	0.855675	D	0.95752	0.8618	M	0.76838	2.35	0.53005	D	0.999965	P;D;D	0.62365	0.846;0.98;0.991	P;P;P	0.60682	0.568;0.873;0.878	D	0.93104	0.6511	10	0.62326	D	0.03	-1.1233	8.8607	0.35256	0.0:0.8348:0.0:0.1652	.	258;129;447	Q5T890-2;F2Z2R4;Q5T890	.;.;RAD26_HUMAN	Y	129;447;258	ENSP00000288985:S447Y;ENSP00000416286:S258Y	ENSP00000288985:S447Y	S	+	2	0	C9orf102	97724415	0.953000	0.32496	0.813000	0.32504	0.168000	0.22595	2.667000	0.46808	2.459000	0.83118	0.585000	0.79938	TCT		0.368	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		13	12	1	0	4.3838e-07	1	4.998e-07	13	12					A	98684594	C	A	98684594	3	1	48	1	0	0	0	0	1	0	0	0	2447	913	32	2	1370	2	C9orf102	9	98684594	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	440158	98684594	42528837	2320	6788										
ZNF510	22869	broad.mit.edu	37	chr9	99521061	99521061	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggattttctagttattacatCaatagggattcccctctccc	6	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:99521061C>T	ENST00000375231.1	-	6	2701	c.2051G>A	c.(2050-2052)tGa>tAa	p.*684*	ZNF510_ENST00000223428.4_Silent_p.*684*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTATTACATCAATAGGGATT	0.358																																						ENST00000375231.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21						c.(2050-2052)tGa>tAa		zinc finger protein 510							61	63	62					9																	99521061		2203	4300	6503	SO:0001819	synonymous_variant	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99521061C>T	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"Zinc fingers, C2H2-type", "-"	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.2051G>A	9.37:g.99521061C>T			Somatic				ZNF510_ENST00000223428.4_Silent_p.*684*	p.*684*			WXS	Illumina GAIIx	Phase_I	Q9Y2H8	ZN510_HUMAN			6	2701	-		Acute lymphoblastic leukemia(62;0.0527)	0					Q5SZP5	Silent	SNP	ENST00000375231.1	37	c.2051G>A	CCDS35074.1																																																																																				0.358	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		7	29	0	0	0	1	0	7	29					T	99521061	C	T	99521061	2	4	48	1	0	0	0	0	0	0	0	1	17969	837	29	3		3	ZNF510	9	99521061	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	836467	99521061	41692370	2321	6789										
CTSL2	1515	broad.mit.edu	37	chr9	99797041	99797041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccaatacttgctgttattcGaatttgctccttcaaagccg	7	11	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:99797041G>A	ENST00000259470.5	-	7	1121	c.872C>T	c.(871-873)tCg>tTg	p.S291L	CTSV_ENST00000538255.1_Missense_Mutation_p.S291L|CTSV_ENST00000479932.1_5'Flank	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	291					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)	p.S291L(1)									GCTGTTATTCGAATTTGCTCC	0.378																																						ENST00000259470.5																			1	Substitution - Missense(1)	p.S291L(1)	endometrium(1)								c.(871-873)tCg>tTg		cathepsin V							113	111	111					9																	99797041		2203	4300	6503	SO:0001583	missense	1515							g.chr9:99797041G>A	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"Cathepsins"	2538	protein-coding gene	gene with protein product		603308	"cathepsin L2"	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.872C>T	9.37:g.99797041G>A	ENSP00000259470:p.Ser291Leu		Somatic				CTSV_ENST00000538255.1_Missense_Mutation_p.S291L	p.S291L	NM_001333.3	NP_001324.2	WXS	Illumina GAIIx	Phase_I					7	1121	-								O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	ENST00000259470.5	37	c.872C>T	CCDS6723.1	.	.	.	.	.	.	.	.	.	.	G	3.335	-0.135751	0.06711	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	T;T	0.23950	1.88;1.88	3.7	3.7	0.42460	Peptidase C1A, papain C-terminal (2);	.	.	.	.	T	0.10337	0.0253	N	0.05050	-0.12	0.09310	N	1	P;P	0.44044	0.677;0.825	B;B	0.34779	0.132;0.189	T	0.04216	-1.0968	8	.	.	.	.	8.7726	0.34742	0.0:0.0:0.7749:0.2251	.	291;291	B2R717;O60911	.;CATL2_HUMAN	L	291	ENSP00000259470:S291L;ENSP00000445052:S291L	.	S	-	2	0	CTSL2	98836862	0.864000	0.29904	0.007000	0.13788	0.003000	0.03518	2.326000	0.43849	2.387000	0.81309	0.555000	0.69702	TCG		0.378	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333		22	37	0	0	0	1	0	22	37					A	99797041	G	A	99797041	3	1	48	1	0	0	0	0	1	0	0	0	4041	1059	37	1	140	1	CTSL2	9	99797041	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	275980	99797041	41416390	2322	6790										
NCBP1	4686	broad.mit.edu	37	chr9	100418013	100418013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggttttctcatcatctaaGtaacttccagttccgttgga	7	9	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:100418013G>A	ENST00000375147.3	+	13	1521	c.1265G>A	c.(1264-1266)aGt>aAt	p.S422N		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	422					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CATCATCTAAGTAACTTCCAG	0.343																																					Ovarian(36;879 898 2893 44212 50307)	ENST00000375147.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19						c.(1264-1266)aGt>aAt		nuclear cap binding protein subunit 1, 80kDa							132	126	128					9																	100418013		2203	4300	6503	SO:0001583	missense	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100418013G>A	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"nuclear cap binding protein subunit 1, 80kD"	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.1265G>A	9.37:g.100418013G>A	ENSP00000364289:p.Ser422Asn		Somatic					p.S422N	NM_002486.4	NP_002477.1	WXS	Illumina GAIIx	Phase_I	Q09161	NCBP1_HUMAN			13	1521	+		Acute lymphoblastic leukemia(62;0.158)	422					B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	ENST00000375147.3	37	c.1265G>A	CCDS6728.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615141	0.87359	.	.	ENSG00000136937	ENST00000375147	.	.	.	5.7	4.8	0.61643	MIF4G-like, type 1 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.079357	0.85682	N	0.000000	D	0.83760	0.5324	M	0.90650	3.135	0.80722	D	1	D	0.65815	0.995	D	0.67382	0.951	D	0.87273	0.2287	9	0.66056	D	0.02	-9.4762	14.5504	0.68061	0.071:0.0:0.929:0.0	.	422	Q09161	NCBP1_HUMAN	N	422	.	ENSP00000364289:S422N	S	+	2	0	NCBP1	99457834	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.544000	0.82117	1.547000	0.49401	0.655000	0.94253	AGT		0.343	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		5	23	0	0	0	1	0	5	23					A	100418013	G	A	100418013	3	1	48	1	0	0	0	0	1	0	0	0	10220	1029	36	3	1315	3	NCBP1	9	100418013	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	620972	100418013	40795418	2323	6791										
HEMGN	55363	broad.mit.edu	37	chr9	100692679	100692679	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagagggggctttaggcacaAtaatttcgttacatgtttta	11	5	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:100692679A>C	ENST00000259456.3	-	4	1141	c.998T>G	c.(997-999)aTt>aGt	p.I333S		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	333					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTTAGGCACAATAATTTCGTT	0.348																																						ENST00000259456.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27						c.(997-999)aTt>aGt		hemogen							241	239	240					9																	100692679		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100692679A>C	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.998T>G	9.37:g.100692679A>C	ENSP00000259456:p.Ile333Ser		Somatic					p.I333S	NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	WXS	Illumina GAIIx	Phase_I	Q9BXL5	HEMGN_HUMAN			4	1141	-		Acute lymphoblastic leukemia(62;0.0559)	333					Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.998T>G	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.542844	0.00934	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	5.25	1.03	0.20045	.	1.470090	0.03750	N	0.256413	T	0.26702	0.0653	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13442	-1.0509	9	0.11182	T	0.66	0.9637	5.1913	0.15210	0.2706:0.1541:0.5753:0.0	.	333	Q9BXL5	HEMGN_HUMAN	S	333	.	ENSP00000259456:I333S	I	-	2	0	HEMGN	99732500	0.013000	0.17824	0.001000	0.08648	0.003000	0.03518	0.350000	0.20079	0.292000	0.22492	-0.177000	0.13119	ATT		0.348	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978		8	132	0	0	0	1	0	8	132					C	100692679	A	C	100692679	3	2	48	1	0	0	0	0	1	0	0	0	7059	101	4	4	464	4	HEMGN	9	100692679	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	274666	100692679	40520752	2324	6792										
TBC1D2	55357	broad.mit.edu	37	chr9	100961799	100961799	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctccagccgctcccggtggAccatgcgcagctgccgcagc	12	19	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:100961799A>G	ENST00000375066.5	-	13	2709	c.2618T>C	c.(2617-2619)gTc>gCc	p.V873A	TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000375063.1_Missense_Mutation_p.V424A|TBC1D2_ENST00000342112.5_Missense_Mutation_p.V666A	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	884					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)		CTCCCGGTGGACCATGCGCAG	0.637																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2617-2619)gTc>gCc		TBC1 domain family, member 2							122	129	127					9																	100961799		2203	4298	6501	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100961799A>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	ENST00000375066.5:c.2618T>C	9.37:g.100961799A>G	ENSP00000364207:p.Val873Ala		Somatic				TBC1D2_ENST00000342112.5_Missense_Mutation_p.V666A|TBC1D2_ENST00000375063.1_Missense_Mutation_p.V424A|TBC1D2_ENST00000375064.1_3'UTR	p.V873A	NM_018421.3	NP_060891.3	WXS	Illumina GAIIx	Phase_I	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	13	2709	-		Myeloproliferative disorder(762;0.0255)	884					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375066.5	37	c.2618T>C	CCDS35080.1	.	.	.	.	.	.	.	.	.	.	A	3.261	-0.151187	0.06585	.	.	ENSG00000095383	ENST00000375066;ENST00000342112;ENST00000375063	T;T;T	0.07114	3.22;3.65;3.22	5.51	-2.16	0.07080	.	1.098330	0.06770	N	0.783317	T	0.02047	0.0064	N	0.01109	-1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.44757	-0.9307	10	0.15499	T	0.54	.	1.6494	0.02768	0.4869:0.1179:0.1746:0.2207	.	884;873	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	A	873;666;424	ENSP00000364207:V873A;ENSP00000341567:V666A;ENSP00000364203:V424A	ENSP00000341567:V666A	V	-	2	0	TBC1D2	100001620	0.000000	0.05858	0.009000	0.14445	0.525000	0.34531	-0.402000	0.07223	-0.249000	0.09569	-0.558000	0.04189	GTC		0.637	TBC1D2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053367.1	NM_018421		89	171	0	0	0	1	0	89	171					G	100961799	A	G	100961799	3	3	48	1	0	0	0	0	1	0	0	0	15623	275	10	4	139	4	TBC1D2	9	100961799	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	269120	100961799	40251632	2325	6793										
GABBR2	9568	broad.mit.edu	37	chr9	101340240	101340240	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caccagattccagccttggaGggactctgcaatgatggatg	12	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:101340240G>T	ENST00000259455.2	-	2	895	c.436C>A	c.(436-438)Ctc>Atc	p.L146I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	146					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)	CAGCCTTGGAGGGACTCTGCA	0.493																																						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.(436-438)Ctc>Atc		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						194	190	192					9																	101340240		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.chr9:101340240G>T	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.436C>A	9.37:g.101340240G>T	ENSP00000259455:p.Leu146Ile		Somatic					p.L146I	NM_005458.7	NP_005449.5	WXS	Illumina GAIIx	Phase_I	O75899	GABR2_HUMAN			2	895	-		Acute lymphoblastic leukemia(62;0.0527)	146					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.436C>A	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	g	16.59	3.164523	0.57476	.	.	ENSG00000136928	ENST00000259455	D	0.84516	-1.86	4.24	4.24	0.50183	Extracellular ligand-binding receptor (1);	0.000000	0.56097	D	0.000022	D	0.86401	0.5924	L	0.36672	1.1	0.35191	D	0.773375	D	0.57257	0.979	D	0.71414	0.973	D	0.88903	0.3354	10	0.59425	D	0.04	-24.6896	8.1213	0.30974	0.1119:0.0:0.8881:0.0	.	146	O75899	GABR2_HUMAN	I	146	ENSP00000259455:L146I	ENSP00000259455:L146I	L	-	1	0	GABBR2	100380061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.995000	0.57001	1.921000	0.55644	0.550000	0.68814	CTC		0.493	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			22	47	1	0	6.44725e-10	1	7.85205e-10	22	47					T	101340240	G	T	101340240	3	4	48	1	0	0	0	0	1	0	0	0	6164	1000	35	5	2461	5	GABBR2	9	101340240	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	378441	101340240	39873191	2326	6794										
GALNT12	79695	broad.mit.edu	37	chr9	101585576	101585576	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgattatgataatttgcccaGgacatctgttatcatagcat	7	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:101585576G>T	ENST00000375011.3	+	2	410	c.410G>T	c.(409-411)aGg>aTg	p.R137M		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	137	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)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				AATTTGCCCAGGACATCTGTT	0.453																																						ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(409-411)aGg>aTg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							101	103	103					9																	101585576		2203	4300	6503	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101585576G>T	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19877	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 12"	610290	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.410G>T	9.37:g.101585576G>T	ENSP00000364150:p.Arg137Met		Somatic					p.R137M	NM_024642.4	NP_078918.3	WXS	Illumina GAIIx	Phase_I	Q8IXK2	GLT12_HUMAN			2	410	+		Acute lymphoblastic leukemia(62;0.0559)	137			Catalytic subdomain A.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.410G>T	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.406294	0.42715	.	.	ENSG00000119514	ENST00000375011	T	0.59906	0.23	5.37	-5.43	0.02632	.	0.436240	0.27068	N	0.021092	T	0.40272	0.1110	L	0.43923	1.385	0.09310	N	0.999995	P	0.49559	0.925	B	0.41036	0.346	T	0.48222	-0.9054	10	0.72032	D	0.01	.	7.9715	0.30130	0.279:0.3614:0.3596:0.0	.	137	Q8IXK2	GLT12_HUMAN	M	137	ENSP00000364150:R137M	ENSP00000364150:R137M	R	+	2	0	GALNT12	100625397	0.160000	0.22878	0.247000	0.24249	0.904000	0.53231	0.851000	0.27751	-0.966000	0.03587	-1.261000	0.01458	AGG		0.453	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		20	37	1	0	2.4624e-09	1	2.95225e-09	20	37					T	101585576	G	T	101585576	3	4	48	1	0	0	0	0	1	0	0	0	6218	1000	35	5	416	5	GALNT12	9	101585576	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	245336	101585576	39627855	2327	6795										
GALNT12	79695	broad.mit.edu	37	chr9	101589141	101589141	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagcccggctgctgggggcgTctgcggcgaggggcgatgtt	21	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:101589141T>C	ENST00000375011.3	+	3	649	c.649T>C	c.(649-651)Tct>Cct	p.S217P		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	217	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)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GCTGGGGGCGTCTGCGGCGAG	0.667																																						ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(649-651)Tct>Cct		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							32	30	31					9																	101589141		2202	4299	6501	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101589141T>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.649T>C	9.37:g.101589141T>C	ENSP00000364150:p.Ser217Pro		Somatic					p.S217P	NM_024642.4	NP_078918.3	WXS	Illumina GAIIx	Phase_I	Q8IXK2	GLT12_HUMAN			3	649	+		Acute lymphoblastic leukemia(62;0.0559)	217			Catalytic subdomain A.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.649T>C	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.783313	0.49891	.	.	ENSG00000119514	ENST00000375011	T	0.62498	0.02	5.96	5.96	0.96718	Glycosyl transferase, family 2 (1);	0.046895	0.85682	D	0.000000	T	0.75064	0.3799	M	0.69358	2.11	0.48395	D	0.999647	D	0.62365	0.991	P	0.61658	0.892	T	0.77728	-0.2479	10	0.72032	D	0.01	.	14.3859	0.66945	0.0:0.0:0.0:1.0	.	217	Q8IXK2	GLT12_HUMAN	P	217	ENSP00000364150:S217P	ENSP00000364150:S217P	S	+	1	0	GALNT12	100628962	1.000000	0.71417	0.094000	0.20943	0.201000	0.24016	4.010000	0.57117	2.270000	0.75569	0.533000	0.62120	TCT		0.667	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		7	10	0	0	0	1	0	7	10					C	101589141	T	C	101589141	3	2	48	1	0	0	0	0	1	0	0	0	6218	1667	58	4	659	4	GALNT12	9	101589141	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	3565	101589141	39624290	2328	6796										
GALNT12	79695	broad.mit.edu	37	chr9	101594117	101594117	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgatcgactggaacaccttCgaatacctggggaactccgg	12	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:101594117C>T	ENST00000375011.3	+	4	795	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	265					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)				GGAACACCTTCGAATACCTGG	0.572																																						ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(793-795)ttC>ttT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							93	85	88					9																	101594117		2203	4300	6503	SO:0001819	synonymous_variant	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101594117C>T	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19877	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 12"	610290	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.795C>T	9.37:g.101594117C>T			Somatic					p.F265F	NM_024642.4	NP_078918.3	WXS	Illumina GAIIx	Phase_I	Q8IXK2	GLT12_HUMAN			4	795	+		Acute lymphoblastic leukemia(62;0.0559)	265					Q5TCF7|Q8NG54|Q96CT9|Q9H771	Silent	SNP	ENST00000375011.3	37	c.795C>T	CCDS6737.1																																																																																				0.572	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		25	23	0	0	0	1	0	25	23					T	101594117	C	T	101594117	2	4	48	1	0	0	0	0	0	0	0	1	6218	883	31	1		1	GALNT12	9	101594117	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4976	101594117	39619314	2329	6797										
LPPR1	54886	broad.mit.edu	37	chr9	104032271	104032271	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggacggagacttaatgaagcCttacccagggacagaggaag	14	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:104032271C>A	ENST00000374874.3	+	3	612	c.173C>A	c.(172-174)cCt>cAt	p.P58H	LPPR1_ENST00000395056.2_Missense_Mutation_p.P58H	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		58					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										TTAATGAAGCCTTACCCAGGG	0.483																																						ENST00000374874.3																			0											c.(172-174)cCt>cAt									127	115	119					9																	104032271		2203	4300	6503	SO:0001583	missense	0					integral to membrane	catalytic activity	g.chr9:104032271C>A																												ENST00000374874.3:c.173C>A	9.37:g.104032271C>A	ENSP00000364008:p.Pro58His		Somatic				LPPR1_ENST00000395056.2_Missense_Mutation_p.P58H	p.P58H	NM_207299.1	NP_997182.1	WXS	Illumina GAIIx	Phase_I	Q8TBJ4	LPPR1_HUMAN			3	612	+			58					Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	c.173C>A	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756640	0.89843	.	.	ENSG00000148123	ENST00000374874;ENST00000456287;ENST00000374871;ENST00000395056	T;T;T	0.51817	0.69;0.69;0.69	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.77302	-0.2638	10	0.87932	D	0	-36.7051	18.8647	0.92287	0.0:1.0:0.0:0.0	.	42;58	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	H	58	ENSP00000364008:P58H;ENSP00000410223:P58H;ENSP00000378496:P58H	ENSP00000364005:P58H	P	+	2	0	RP11-35N6.1	103072092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.767000	0.95098	0.557000	0.71058	CCT		0.483	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			7	38	1	0	8.12818e-05	1	8.79784e-05	7	38					A	104032271	C	A	104032271	3	1	48	1	0	0	0	0	1	0	0	0	8933	681	24	5	179	5	LPPR1	9	104032271	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2438154	104032271	37181160	2330	6798										
ZNF189	7743	broad.mit.edu	37	chr9	104171636	104171636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagctttgtaatcttattcGacatcagggtgttcacacag	8	9	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:104171636G>A	ENST00000339664.2	+	3	1715	c.1586G>A	c.(1585-1587)cGa>cAa	p.R529Q	ZNF189_ENST00000259395.4_Missense_Mutation_p.R487Q|ZNF189_ENST00000374861.3_Missense_Mutation_p.R515Q	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	529					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AATCTTATTCGACATCAGGGT	0.423																																						ENST00000374861.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26						c.(1543-1545)cGa>cAa		zinc finger protein 189							97	96	96					9																	104171636		2203	4300	6503	SO:0001583	missense	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104171636G>A	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"Zinc fingers, C2H2-type", "-"	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.1586G>A	9.37:g.104171636G>A	ENSP00000342019:p.Arg529Gln		Somatic				ZNF189_ENST00000339664.2_Missense_Mutation_p.R529Q|ZNF189_ENST00000259395.4_Missense_Mutation_p.R487Q	p.R515Q	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	WXS	Illumina GAIIx	Phase_I	O75820	ZN189_HUMAN			3	1828	+		Acute lymphoblastic leukemia(62;0.0559)	529					O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	c.1544G>A	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	G	0.154	-1.088220	0.01873	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.36157	1.27;1.27;1.27	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.218087	0.23579	N	0.046668	T	0.27419	0.0673	L	0.53617	1.68	0.24354	N	0.994907	B;P;B	0.34826	0.294;0.471;0.294	B;B;B	0.32864	0.154;0.154;0.064	T	0.12811	-1.0533	10	0.11182	T	0.66	.	8.4196	0.32692	0.1025:0.0:0.8975:0.0	.	514;515;529	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	Q	515;529;487	ENSP00000363995:R515Q;ENSP00000342019:R529Q;ENSP00000259395:R487Q	ENSP00000259395:R487Q	R	+	2	0	ZNF189	103211457	0.000000	0.05858	1.000000	0.80357	0.870000	0.49936	-1.813000	0.01725	2.699000	0.92147	0.650000	0.86243	CGA		0.423	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		11	38	0	0	0	1	0	11	38					A	104171636	G	A	104171636	3	1	48	1	0	0	0	0	1	0	0	0	17769	1058	37	1	1596	1	ZNF189	9	104171636	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	139365	104171636	37041795	2331	6799										
RNF20	56254	broad.mit.edu	37	chr9	104316369	104316369	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttcagctgatggcagctgaGaagaagtctaaggcagaggt	15	6	2	4	rs147900751	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:104316369G>A	ENST00000389120.3	+	14	2091	c.2001G>A	c.(1999-2001)gaG>gaA	p.E667E		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	667					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)		TGGCAGCTGAGAAGAAGTCTA	0.428													G|||	3	0.000599042	0.0023	0	5008	,	,		17160	0		0	False		,,,				2504	0					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.(1999-2001)gaG>gaA		ring finger protein 20, E3 ubiquitin protein ligase		G		5,4401	9.9+/-24.2	0,5,2198	141	118	126		2001	4.2	1	9	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	RNF20	NM_019592.5		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		667/976	104316369	5,13001	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.chr9:104316369G>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.2001G>A	9.37:g.104316369G>A			Somatic					p.E667E	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)	14	2091	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	667					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Silent	SNP	ENST00000389120.3	37	c.2001G>A	CCDS35084.1																																																																																				0.428	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		20	42	0	0	0	1	0	20	42					A	104316369	G	A	104316369	2	1	48	1	0	0	0	0	0	0	0	1	13488	933	33	3		3	RNF20	9	104316369	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	144733	104316369	36897062	2332	6800										
RNF20	56254	broad.mit.edu	37	chr9	104316985	104316985	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctcttatagttggaagatCtaaggcaaagactcaaggat	9	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:104316985C>A	ENST00000389120.3	+	15	2119	c.2029C>A	c.(2029-2031)Cta>Ata	p.L677I		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	677					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)		GTTGGAAGATCTAAGGCAAAG	0.363																																						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.(2029-2031)Cta>Ata		ring finger protein 20, E3 ubiquitin protein ligase							60	61	61					9																	104316985		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.chr9:104316985C>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.2029C>A	9.37:g.104316985C>A	ENSP00000373772:p.Leu677Ile		Somatic					p.L677I	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)	15	2119	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	677					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.2029C>A	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412687	0.62511	.	.	ENSG00000155827	ENST00000389120	T	0.45668	0.89	5.55	3.69	0.42338	.	0.063292	0.64402	D	0.000004	T	0.49304	0.1549	M	0.62088	1.915	0.58432	D	0.999999	P	0.45283	0.855	P	0.51355	0.667	T	0.44003	-0.9356	10	0.49607	T	0.09	-6.5843	9.4334	0.38624	0.0:0.7623:0.0:0.2377	.	677	Q5VTR2	BRE1A_HUMAN	I	677	ENSP00000373772:L677I	ENSP00000373772:L677I	L	+	1	2	RNF20	103356806	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	3.025000	0.49681	0.686000	0.31488	0.561000	0.74099	CTA		0.363	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		10	24	1	0	0.00829132	1	0.00855608	10	24					A	104316985	C	A	104316985	3	1	48	1	0	0	0	0	1	0	0	0	13488	912	32	2	2083	2	RNF20	9	104316985	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	616	104316985	36896446	2333	6801										
PPP3R2	116443	broad.mit.edu	37	chr9	104357195	104357195	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccgccgggtaactggcctcGtttcccattgtggacatctg	11	13	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:104357195G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.N6N	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						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)	AACTGGCCTCGTTTCCCATTG	0.592																																						ENST00000374806.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(16-18)aaC>aaT		protein phosphatase 3, regulatory subunit B, beta	Cyclosporine(DB00091)						41	45	44					9																	104357195		2199	4298	6497	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104357195G>A		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.2767-15553C>T	9.37:g.104357195G>A			Somatic				GRIN3A_ENST00000361820.3_Intron	p.N6N	NM_147180.2	NP_671709.1	WXS	Illumina GAIIx	Phase_I	Q96LZ3	CANB2_HUMAN			1	88	-		Acute lymphoblastic leukemia(62;0.0527)	3					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.18C>T	CCDS6758.1																																																																																				0.592	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			36	53	0	0	0	1	0	36	53					A	104357195	G	A	104357195	1	1	48	0	1	0	0	0	0	0	0	0	12413	1136	40	1		1	PPP3R2	9	104357195	Intron	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	40210	104357195	36856236	2334	6802										
OR13C4	138804	broad.mit.edu	37	chr9	107289097	107289097	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgttcatgatgatggggtAtctcagagggttacagatgg	14	5	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:107289097A>C	ENST00000277216.3	-	1	393	c.394T>G	c.(394-396)Tac>Gac	p.Y132D		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATGATGGGGTATCTCAGAGGG	0.453																																						ENST00000277216.3																			0				breast(1)|large_intestine(2)|lung(14)|skin(1)	18						c.(394-396)Tac>Gac		olfactory receptor, family 13, subfamily C, member 4							156	131	140					9																	107289097		2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107289097A>C		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"GPCR / Class A : Olfactory receptors"	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.394T>G	9.37:g.107289097A>C	ENSP00000277216:p.Tyr132Asp		Somatic					p.Y132D	NM_001001919.1	NP_001001919.1	WXS	Illumina GAIIx	Phase_I	Q8NGS5	O13C4_HUMAN			1	393	-			132					Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.394T>G	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.077796	0.55753	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.01947	4.54	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	U	0.000691	T	0.22166	0.0534	H	0.99261	4.49	0.38350	D	0.944309	D	0.64830	0.994	D	0.65233	0.933	T	0.47509	-0.9112	10	0.72032	D	0.01	.	11.6527	0.51299	1.0:0.0:0.0:0.0	.	132	Q8NGS5	O13C4_HUMAN	D	132;161	ENSP00000277216:Y132D	ENSP00000277216:Y132D	Y	-	1	0	OR13C4	106328918	1.000000	0.71417	0.963000	0.40424	0.505000	0.33919	7.116000	0.77119	1.893000	0.54813	0.477000	0.44152	TAC		0.453	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			20	97	0	0	0	1	0	20	97					C	107289097	A	C	107289097	3	2	48	1	0	0	0	0	1	0	0	0	10945	449	16	4	564	4	OR13C4	9	107289097	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2931902	107289097	33924334	2335	6803										
ABCA1	19	broad.mit.edu	37	chr9	107548664	107548664	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtgcaaagagcttcacattCttccatactgcggtaaaaca	7	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:107548664C>A	ENST00000374736.3	-	48	6710	c.6316G>T	c.(6316-6318)Gaa>Taa	p.E2106*		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2106	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	GCTTCACATTCTTCCATACTG	0.413																																						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.(6316-6318)Gaa>Taa		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						134	121	126					9																	107548664		2203	4300	6503	SO:0001587	stop_gained	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.chr9:107548664C>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6316G>T	9.37:g.107548664C>A	ENSP00000363868:p.Glu2106*		Somatic					p.E2106*	NM_005502.3	NP_005493.2	WXS	Illumina GAIIx	Phase_I	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	48	6710	-			2106			ABC transporter 2.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Nonsense_Mutation	SNP	ENST00000374736.3	37	c.6316G>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	50	16.443165	0.99863	.	.	ENSG00000165029	ENST00000374736	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0431	0.97598	0.0:1.0:0.0:0.0	.	.	.	.	X	2106	.	ENSP00000363868:E2106X	E	-	1	0	ABCA1	106588485	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.740000	0.93945	0.650000	0.86243	GAA		0.413	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		21	44	1	0	7.41877e-09	1	8.8016e-09	21	44					A	107548664	C	A	107548664	4	1	48	1	0	0	0	0	0	1	0	0	28	922	32	2	481	2	ABCA1	9	107548664	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	259567	107548664	33664767	2336	6804										
ABCA1	19	broad.mit.edu	37	chr9	107595031	107595031	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgttcccaaaagtggtcatTgtccctgctgtccaacagca	8	13	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:107595031T>C	ENST00000374736.3	-	12	1727	c.1333A>G	c.(1333-1335)Aat>Gat	p.N445D	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	445					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)	AAGTGGTCATTGTCCCTGCTG	0.453																																						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.(1333-1335)Aat>Gat		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						169	133	145					9																	107595031		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.chr9:107595031T>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.1333A>G	9.37:g.107595031T>C	ENSP00000363868:p.Asn445Asp		Somatic					p.N445D	NM_005502.3	NP_005493.2	WXS	Illumina GAIIx	Phase_I	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	12	1727	-			445					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.1333A>G	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	7.337	0.620143	0.14193	.	.	ENSG00000165029	ENST00000374736	D	0.85013	-1.93	5.61	5.61	0.85477	.	0.204155	0.49916	D	0.000129	T	0.77890	0.4198	L	0.36672	1.1	0.80722	D	1	B	0.19200	0.034	B	0.20184	0.028	T	0.71800	-0.4483	10	0.12430	T	0.62	.	13.747	0.62881	0.0:0.0:0.0:1.0	.	445	O95477	ABCA1_HUMAN	D	445	ENSP00000363868:N445D	ENSP00000363868:N445D	N	-	1	0	ABCA1	106634852	1.000000	0.71417	0.972000	0.41901	0.307000	0.27823	4.404000	0.59735	2.127000	0.65507	0.460000	0.39030	AAT		0.453	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		19	50	0	0	0	1	0	19	50					C	107595031	T	C	107595031	3	2	48	1	0	0	0	0	1	0	0	0	28	1812	63	4	5608	4	ABCA1	9	107595031	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	46367	107595031	33618400	2337	6805										
ABCA1	19	broad.mit.edu	37	chr9	107620980	107620980	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggtagccttgcaaaaatacCtggaagcatttcatgcaaag	9	8	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:107620980C>A	ENST00000374736.3	-	7	938		c.e7-1		ABCA1_ENST00000423487.2_Splice_Site	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1						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)	GCAAAAATACCTGGAAGCATT	0.393																																						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.e7-1		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						94	92	92					9																	107620980		2203	4300	6503	SO:0001630	splice_region_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107620980C>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.544-1G>T	9.37:g.107620980C>A			Somatic				ABCA1_ENST00000423487.2_Splice_Site		NM_005502.3	NP_005493.2	WXS	Illumina GAIIx	Phase_I	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	7	938	-								Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Splice_Site	SNP	ENST00000374736.3	37		CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195986	0.78902	.	.	ENSG00000165029	ENST00000374736;ENST00000423487	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7962	0.88572	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA1	106660801	1.000000	0.71417	0.989000	0.46669	0.972000	0.66771	4.848000	0.62874	2.941000	0.99782	0.655000	0.94253	.		0.393	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	Intron	25	39	1	0	2.48779e-11	1	3.09215e-11	25	39					A	107620980	C	A	107620980	5	1	48	1	0	0	0	0	0	0	1	0	28	695	24	5	6418	5	ABCA1	9	107620980	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	25949	107620980	33592451	2338	6806										
SLC44A1	23446	broad.mit.edu	37	chr9	108126842	108126842	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgatattttcctaggcagtcCtgttcagaatgagcaaggct	10	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:108126842C>A	ENST00000374720.3	+	10	1341	c.1094C>A	c.(1093-1095)cCt>cAt	p.P365H	SLC44A1_ENST00000374723.1_Missense_Mutation_p.P365H|SLC44A1_ENST00000374724.1_Missense_Mutation_p.P365H|SLC44A1_ENST00000343170.7_Missense_Mutation_p.P157H	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	365					choline transport (GO:0015871)|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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	CTAGGCAGTCCTGTTCAGAAT	0.443																																						ENST00000374720.3																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1093-1095)cCt>cAt		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)						148	151	150					9																	108126842		2203	4300	6503	SO:0001583	missense	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108126842C>A	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1094C>A	9.37:g.108126842C>A	ENSP00000363852:p.Pro365His		Somatic				SLC44A1_ENST00000343170.7_Missense_Mutation_p.P157H|SLC44A1_ENST00000374723.1_Missense_Mutation_p.P365H|SLC44A1_ENST00000374724.1_Missense_Mutation_p.P365H	p.P365H	NM_080546.3	NP_536856.2	WXS	Illumina GAIIx	Phase_I	Q8WWI5	CTL1_HUMAN			10	1341	+			365					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	c.1094C>A	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747716	0.89663	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.7	5.7	0.88788	.	0.148183	0.64402	D	0.000013	T	0.48132	0.1483	M	0.77486	2.375	0.48762	D	0.999702	P;P;D	0.53151	0.766;0.766;0.958	P;P;P	0.53549	0.729;0.729;0.641	T	0.49224	-0.8962	10	0.62326	D	0.03	-12.7852	19.8383	0.96670	0.0:1.0:0.0:0.0	.	365;365;365	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	H	365;365;365;157	ENSP00000363855:P365H;ENSP00000363852:P365H;ENSP00000363856:P365H;ENSP00000341856:P157H	ENSP00000341856:P157H	P	+	2	0	SLC44A1	107166663	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.758000	0.85224	2.683000	0.91414	0.650000	0.86243	CCT		0.443	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		45	79	1	0	2.20914e-33	1	3.16969e-33	45	79					A	108126842	C	A	108126842	3	1	48	1	0	0	0	0	1	0	0	0	14650	681	24	5	1132	5	SLC44A1	9	108126842	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	505862	108126842	33086589	2339	6807										
TXN	7295	broad.mit.edu	37	chr9	113013138	113013138	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacttcaaggaatatcacgtTggaatacttttcagagaggg	10	6	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:113013138T>C	ENST00000374517.5	-	3	355	c.151A>G	c.(151-153)Aac>Gac	p.N51D	TXN_ENST00000374515.5_Intron	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN	thioredoxin	51	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|glycerol ether metabolic process (GO:0006662)|innate immune response (GO:0045087)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oxidation-reduction process (GO:0055114)|positive regulation of DNA binding (GO:0043388)|regulation of protein import into nucleus, translocation (GO:0033158)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	peptide disulfide oxidoreductase activity (GO:0015037)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		AATATCACGTTGGAATACTTT	0.363																																						ENST00000374517.5																			0				kidney(1)|skin(1)	2						c.(151-153)Aac>Gac		thioredoxin							85	81	83					9																	113013138		2203	4300	6503	SO:0001583	missense	7295				cell proliferation|cell-cell signaling|cellular component movement|electron transport chain|glycerol ether metabolic process|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|regulation of protein import into nucleus, translocation|response to radiation|signal transduction|transcription, DNA-dependent|transport	cytosol|extracellular region|nucleoplasm	electron carrier activity|protein binding|protein disulfide oxidoreductase activity	g.chr9:113013138T>C	X77584	CCDS35103.1, CCDS59139.1	9q31	2008-02-05			ENSG00000136810	ENSG00000136810			12435	protein-coding gene	gene with protein product		187700					Standard	NM_003329		Approved	TRX	uc004bep.2	P10599	OTTHUMG00000020480	ENST00000374517.5:c.151A>G	9.37:g.113013138T>C	ENSP00000363641:p.Asn51Asp		Somatic				TXN_ENST00000374515.5_Intron	p.N51D	NM_003329.3	NP_003320.2	WXS	Illumina GAIIx	Phase_I	P10599	THIO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)	3	355	-			51			Thioredoxin.		B1ALW1|O60744|Q53X69|Q96KI3|Q9UDG5	Missense_Mutation	SNP	ENST00000374517.5	37	c.151A>G	CCDS35103.1	.	.	.	.	.	.	.	.	.	.	T	1.748	-0.489951	0.04322	.	.	ENSG00000136810	ENST00000374517	T	0.03181	4.02	6.17	1.11	0.20524	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.364262	0.29900	N	0.010906	T	0.01320	0.0043	N	0.03084	-0.415	0.18873	N	0.999985	B	0.02656	0.0	B	0.04013	0.001	T	0.47661	-0.9100	10	0.09084	T	0.74	-3.7591	3.9651	0.09428	0.0:0.3157:0.186:0.4983	.	51	P10599	THIO_HUMAN	D	51	ENSP00000363641:N51D	ENSP00000363641:N51D	N	-	1	0	TXN	112052959	0.065000	0.20965	0.249000	0.24280	0.932000	0.56968	0.790000	0.26900	0.190000	0.20209	-0.313000	0.08912	AAC		0.363	TXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053614.1			6	31	0	0	0	1	0	6	31					C	113013138	T	C	113013138	3	2	48	1	0	0	0	0	1	0	0	0	16805	1812	63	4	178	4	TXN	9	113013138	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	4886296	113013138	28200293	2340	6808										
SVEP1	79987	broad.mit.edu	37	chr9	113275275	113275275	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgatgctgcttcccacaaGatcaaatccagggtgacatc	9	11	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:113275275G>T	ENST00000401783.2	-	5	1570	c.1234C>A	c.(1234-1236)Ctt>Att	p.L412I	SVEP1_ENST00000302728.8_Missense_Mutation_p.L412I|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.L389I|SVEP1_ENST00000374461.1_Missense_Mutation_p.L389I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	412	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTTCCCACAAGATCAAATCCA	0.468																																						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.(1234-1236)Ctt>Att		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							122	116	118					9																	113275275		1948	4156	6104	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113275275G>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.1234C>A	9.37:g.113275275G>T	ENSP00000384917:p.Leu412Ile		Somatic				SVEP1_ENST00000302728.8_Missense_Mutation_p.L412I|SVEP1_ENST00000374461.1_Missense_Mutation_p.L389I|SVEP1_ENST00000374469.1_Missense_Mutation_p.L389I|SVEP1_ENST00000467821.1_5'UTR	p.L412I	NM_153366.3	NP_699197.3	WXS	Illumina GAIIx	Phase_I	Q4LDE5	SVEP1_HUMAN			5	1570	-			412			Sushi 1.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.1234C>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434106	0.83776	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.99	4.92	0.64577	Complement control module (2);Growth factor, receptor (1);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	M	0.87617	2.895	0.40526	D	0.980881	D;D;D;D	0.89917	1.0;1.0;0.997;0.998	D;D;D;D	0.87578	0.998;0.998;0.94;0.996	D	0.85159	0.0991	10	0.72032	D	0.01	.	12.4675	0.55768	0.1407:0.0:0.8593:0.0	.	412;412;412;412	E9PBN8;Q4LDE5;B3KV07;Q4LDE5-2	.;SVEP1_HUMAN;.;.	I	412;389;412;389	ENSP00000384917:L412I;ENSP00000363593:L389I;ENSP00000304118:L412I;ENSP00000363585:L389I	ENSP00000304118:L412I	L	-	1	0	SVEP1	112315096	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.410000	0.66381	2.840000	0.97914	0.655000	0.94253	CTT		0.468	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				20	42	1	0	2.4624e-09	1	2.95225e-09	20	42					T	113275275	G	T	113275275	3	4	48	1	0	0	0	0	1	0	0	0	15435	942	33	2	9657	2	SVEP1	9	113275275	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	262137	113275275	27938156	2341	6809										
PTGR1	22949	broad.mit.edu	37	chr9	114355205	114355205	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggacaaatggaaataattaCttggccacttgctgccccat	9	10	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:114355205C>A	ENST00000407693.2	-	4	472		c.e4+1		PTGR1_ENST00000309195.5_Splice_Site|PTGR1_ENST00000538962.1_Splice_Site|PTGR1_ENST00000238248.3_Splice_Site	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1						arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						GAAATAATTACTTGGCCACTT	0.383																																					Ovarian(200;132 2151 7551 19220 46064)	ENST00000407693.2																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						c.e4+1		prostaglandin reductase 1							108	102	104					9																	114355205		2203	4300	6503	SO:0001630	splice_region_variant	22949				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr9:114355205C>A	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"zinc binding alcohol dehydrogenase domain containing 3"	601274	"leukotriene B4 12-hydroxydehydrogenase"	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.209+1G>T	9.37:g.114355205C>A			Somatic				PTGR1_ENST00000238248.3_Splice_Site|PTGR1_ENST00000538962.1_Splice_Site|PTGR1_ENST00000309195.5_Splice_Site		NM_001146108.1	NP_001139580.1	WXS	Illumina GAIIx	Phase_I	Q14914	PTGR1_HUMAN			4	472	-								A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Splice_Site	SNP	ENST00000407693.2	37		CCDS6779.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.44|19.44	3.828588|3.828588	0.71258|0.71258	.|.	.|.	ENSG00000106853|ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693|ENST00000374313;ENST00000374308	.|.	.|.	.|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73636	.|0.3612	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76958	.|-0.2766	.|5	.|0.87932	.|D	.|0	.|.	14.0116|14.0116	0.64500|0.64500	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|N	-1|70	.|.	.|ENSP00000363427:K70N	.|K	-|-	.|3	.|2	PTGR1|PTGR1	113395026|113395026	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.956000|0.956000	0.61745|0.61745	5.982000|5.982000	0.70532|0.70532	2.560000|2.560000	0.86352|0.86352	0.650000|0.650000	0.86243|0.86243	.|AAG		0.383	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2		Intron	9	32	1	0	3.86212e-05	1	4.21111e-05	9	32					A	114355205	C	A	114355205	5	1	48	1	0	0	0	0	0	0	1	0	12766	579	20	5	838	5	PTGR1	9	114355205	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1079930	114355205	26858226	2342	6810										
SUSD1	64420	broad.mit.edu	37	chr9	114864560	114864560	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccatcatcttctaagagatCaacttctaaaagacaagaga	5	9	5	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:114864560C>A	ENST00000374270.3	-	9	1349	c.1177G>T	c.(1177-1179)Gat>Tat	p.D393Y	SUSD1_ENST00000374263.3_Missense_Mutation_p.D393Y|SUSD1_ENST00000374264.2_Missense_Mutation_p.D393Y	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	393						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						TCTAAGAGATCAACTTCTAAA	0.358																																						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.(1177-1179)Gat>Tat		sushi domain containing 1							43	44	44					9																	114864560		2203	4296	6499	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114864560C>A	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1177G>T	9.37:g.114864560C>A	ENSP00000363388:p.Asp393Tyr		Somatic				SUSD1_ENST00000374264.2_Missense_Mutation_p.D393Y|SUSD1_ENST00000374263.3_Missense_Mutation_p.D393Y	p.D393Y	NM_022486.3	NP_071931.2	WXS	Illumina GAIIx	Phase_I	Q6UWL2	SUSD1_HUMAN			9	1349	-			393					A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1177G>T	CCDS6783.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.59|13.59|13.59	2.281340|2.281340|2.281340	0.40394|0.40394|0.40394	.|.|.	.|.|.	ENSG00000106868|ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000415074|ENST00000355396	T;T;T|.|.	0.74315|.|.	-0.76;-0.78;-0.83|.|.	4.41|4.41|4.41	3.43|3.43|3.43	0.39272|0.39272|0.39272	.|.|.	0.171891|.|.	0.27451|.|.	N|.|.	0.019301|.|.	T|T|.	0.55417|0.55417|.	0.1919|0.1919|.	M|M|M	0.72118|0.72118|0.72118	2.19|2.19|2.19	0.29407|0.29407|0.29407	N|N|N	0.86149|0.86149|0.86149	D;D;D|.|.	0.76494|.|.	0.999;0.999;0.999|.|.	D;D;D|.|.	0.76071|.|.	0.986;0.987;0.968|.|.	T|T|.	0.53201|0.53201|.	-0.8472|-0.8472|.	10|5|.	0.62326|.|.	D|.|.	0.03|.|.	-15.4699|-15.4699|-15.4699	9.7637|9.7637|9.7637	0.40548|0.40548|0.40548	0.0:0.789:0.211:0.0|0.0:0.789:0.211:0.0|0.0:0.789:0.211:0.0	.|.|.	393;393;393|.|.	F8WAQ1;Q6UWL2-2;Q6UWL2|.|.	.;.;SUSD1_HUMAN|.|.	Y|F|L	393|219|376	ENSP00000363388:D393Y;ENSP00000363381:D393Y;ENSP00000363382:D393Y|.|.	ENSP00000363381:D393Y|.|.	D|L|X	-|-|-	1|3|2	0|2|2	SUSD1|SUSD1|SUSD1	113904381|113904381|113904381	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.492000|0.492000|0.492000	0.33523|0.33523|0.33523	0.806000|0.806000|0.806000	0.27126|0.27126|0.27126	2.161000|2.161000|2.161000	0.67846|0.67846|0.67846	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAT|TTG|TGA		0.358	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		7	14	1	0	0.00198382	1	0.00207034	7	14					A	114864560	C	A	114864560	3	1	48	1	0	0	0	0	1	0	0	0	15422	826	29	2	1102	2	SUSD1	9	114864560	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	509355	114864560	26348871	2343	6811										
HSDL2	84263	broad.mit.edu	37	chr9	115216318	115216318	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttccagaattcaaagaagaGaaactgcagctgcaaccaaa	8	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:115216318G>T	ENST00000398805.3	+	9	1118	c.891G>T	c.(889-891)gaG>gaT	p.E297D	HSDL2_ENST00000539114.1_Missense_Mutation_p.E92D|HSDL2_ENST00000398803.1_Missense_Mutation_p.E224D|HSDL2_ENST00000262542.7_Missense_Mutation_p.E177D|HSDL2_ENST00000488101.1_3'UTR	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	297						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						TCAAAGAAGAGAAACTGCAGC	0.398																																						ENST00000398805.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(889-891)gaG>gaT		hydroxysteroid dehydrogenase like 2							99	90	93					9																	115216318		1861	4102	5963	SO:0001583	missense	84263					peroxisome	oxidoreductase activity|sterol binding	g.chr9:115216318G>T	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.891G>T	9.37:g.115216318G>T	ENSP00000381785:p.Glu297Asp		Somatic				HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000539114.1_Missense_Mutation_p.E92D|HSDL2_ENST00000398803.1_Missense_Mutation_p.E224D|HSDL2_ENST00000262542.7_Missense_Mutation_p.E177D	p.E297D	NM_032303.4	NP_115679.2	WXS	Illumina GAIIx	Phase_I	Q6YN16	HSDL2_HUMAN			9	1118	+			297					A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	ENST00000398805.3	37	c.891G>T	CCDS43864.1	.	.	.	.	.	.	.	.	.	.	G	5.929	0.355506	0.11239	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542;ENST00000539114	D;T;T;T	0.83250	-1.7;1.85;1.9;1.88	5.8	1.98	0.26296	NAD(P)-binding domain (1);	0.391089	0.30227	N	0.010109	T	0.68879	0.3049	L	0.36672	1.1	0.09310	N	1	B;B;B	0.30281	0.275;0.18;0.087	B;B;B	0.24155	0.051;0.037;0.03	T	0.52064	-0.8625	10	0.17832	T	0.49	.	7.5252	0.27652	0.3399:0.0:0.6601:0.0	.	224;224;297	Q6YN16-2;B2R923;Q6YN16	.;.;HSDL2_HUMAN	D	297;224;177;92	ENSP00000381785:E297D;ENSP00000381783:E224D;ENSP00000262542:E177D;ENSP00000442278:E92D	ENSP00000262542:E177D	E	+	3	2	HSDL2	114256139	0.996000	0.38824	0.745000	0.31077	0.313000	0.28021	0.163000	0.16520	0.103000	0.17682	-0.350000	0.07774	GAG		0.398	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303		20	39	1	0	2.94398e-08	1	3.45884e-08	20	39					T	115216318	G	T	115216318	3	4	48	1	0	0	0	0	1	0	0	0	7403	933	33	2	925	2	HSDL2	9	115216318	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	351758	115216318	25997113	2344	6812										
SLC46A2	57864	broad.mit.edu	37	chr9	115652731	115652731	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaaggttgtagataatgtaGaaattggagatggctctctg	12	4	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:115652731G>T	ENST00000374228.4	-	1	462	c.231C>A	c.(229-231)ttC>ttA	p.F77L		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	77					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						AGATAATGTAGAAATTGGAGA	0.607																																						ENST00000374228.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						c.(229-231)ttC>ttA		solute carrier family 46, member 2							111	113	113					9																	115652731		2203	4300	6503	SO:0001583	missense	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115652731G>T	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"Solute carriers"	16055	protein-coding gene	gene with protein product		608956	"thymic stromal co-transporter"	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.231C>A	9.37:g.115652731G>T	ENSP00000363345:p.Phe77Leu		Somatic					p.F77L	NM_033051.3	NP_149040.3	WXS	Illumina GAIIx	Phase_I	Q9BY10	TSCOT_HUMAN			1	462	-			77					B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	ENST00000374228.4	37	c.231C>A	CCDS6786.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005337	0.74932	.	.	ENSG00000119457	ENST00000374228	T	0.50548	0.74	5.11	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.59945	0.2231	M	0.63843	1.955	0.53005	D	0.999962	D	0.89917	1.0	D	0.87578	0.998	T	0.54523	-0.8281	10	0.29301	T	0.29	-34.238	8.442	0.32820	0.301:0.0:0.699:0.0	.	77	Q9BY10	TSCOT_HUMAN	L	77	ENSP00000363345:F77L	ENSP00000363345:F77L	F	-	3	2	SLC46A2	114692552	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.750000	0.62162	0.554000	0.29061	0.650000	0.86243	TTC		0.607	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		10	120	1	0	1.76689e-08	1	2.08373e-08	10	120					T	115652731	G	T	115652731	3	4	48	1	0	0	0	0	1	0	0	0	14660	933	33	2	1212	2	SLC46A2	9	115652731	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	436413	115652731	25560700	2345	6813										
ZFP37	7539	broad.mit.edu	37	chr9	115805272	115805272	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcattacactcatacggtttCtctccagtatgaactctctg	5	12	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:115805272C>A	ENST00000374227.3	-	4	1653	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	ZFP37_ENST00000555206.1_Missense_Mutation_p.E543D|ZFP37_ENST00000553380.1_Missense_Mutation_p.E557D	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	542					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CATACGGTTTCTCTCCAGTAT	0.398																																						ENST00000374227.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1624-1626)gaG>gaT		ZFP37 zinc finger protein							80	75	77					9																	115805272		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805272C>A	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"Zinc fingers, C2H2-type", "-"	12863	protein-coding gene	gene with protein product		602951	"zinc finger protein homologous to Zfp37 in mouse", "zinc finger protein 37 homolog (mouse)"				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1626G>T	9.37:g.115805272C>A	ENSP00000363344:p.Glu542Asp		Somatic				ZFP37_ENST00000553380.1_Missense_Mutation_p.E557D|ZFP37_ENST00000555206.1_Missense_Mutation_p.E543D	p.E542D			WXS	Illumina GAIIx	Phase_I	Q9Y6Q3	ZFP37_HUMAN			4	1653	-			542					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.1626G>T	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630814	0.28978	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.26810	1.71;1.71;1.71	4.43	0.569	0.17340	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000435	T	0.31389	0.0795	L	0.31294	0.92	0.29497	N	0.855236	D;D;D	0.76494	0.979;0.979;0.999	P;P;D	0.69142	0.672;0.672;0.962	T	0.12785	-1.0534	10	0.66056	D	0.02	-17.5536	8.3699	0.32408	0.0:0.6527:0.0:0.3473	.	543;557;542	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	D	542;543;557	ENSP00000363344:E542D;ENSP00000451310:E543D;ENSP00000452552:E557D	ENSP00000363344:E542D	E	-	3	2	ZFP37	114845093	0.944000	0.32072	0.998000	0.56505	0.899000	0.52679	0.102000	0.15272	0.106000	0.17784	-0.150000	0.13652	GAG		0.398	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		18	30	1	0	1.02788e-11	1	1.28326e-11	18	30					A	115805272	C	A	115805272	3	1	48	1	0	0	0	0	1	0	0	0	17663	912	32	2	270	2	ZFP37	9	115805272	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	152541	115805272	25408159	2346	6814										
C9orf43	257169	broad.mit.edu	37	chr9	116187312	116187312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctccagagaccagcactgcGatatcctgaacgtttgaaga	9	11	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:116187312G>A	ENST00000288462.4	+	9	1267	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	C9orf43_ENST00000374165.1_Missense_Mutation_p.R274Q	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	274										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						CCAGCACTGCGATATCCTGAA	0.408																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(820-822)cGa>cAa		chromosome 9 open reading frame 43							113	103	106					9																	116187312		2203	4300	6503	SO:0001583	missense	257169							g.chr9:116187312G>A	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.821G>A	9.37:g.116187312G>A	ENSP00000288462:p.Arg274Gln		Somatic				C9orf43_ENST00000374165.1_Missense_Mutation_p.R274Q	p.R274Q	NM_152786.1	NP_689999.1	WXS	Illumina GAIIx	Phase_I	Q8TAL5	CI043_HUMAN			9	1267	+			274						Missense_Mutation	SNP	ENST00000288462.4	37	c.821G>A	CCDS6796.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755505	0.69648	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.55413	0.52;0.52	4.11	1.3	0.21679	.	0.169634	0.27866	N	0.017536	T	0.33673	0.0871	L	0.34521	1.04	0.09310	N	1	P	0.52061	0.95	B	0.38954	0.286	T	0.24693	-1.0153	10	0.52906	T	0.07	-5.9478	6.0077	0.19554	0.3177:0.0:0.6823:0.0	.	274	Q8TAL5	CI043_HUMAN	Q	274	ENSP00000363280:R274Q;ENSP00000288462:R274Q	ENSP00000288462:R274Q	R	+	2	0	C9orf43	115227133	0.013000	0.17824	0.012000	0.15200	0.492000	0.33523	0.710000	0.25748	0.297000	0.22615	0.557000	0.71058	CGA		0.408	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		15	18	0	0	0	1	0	15	18					A	116187312	G	A	116187312	3	1	48	1	0	0	0	0	1	0	0	0	2485	1058	37	1	851	1	C9orf43	9	116187312	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	382040	116187312	25026119	2347	6815										
C9orf43	257169	broad.mit.edu	37	chr9	116187673	116187673	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagcagcagcagcaacagaaGaaggtgaaaacacctattaa	9	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:116187673G>A	ENST00000288462.4	+	10	1361	c.915G>A	c.(913-915)aaG>aaA	p.K305K	C9orf43_ENST00000374165.1_Silent_p.K305K	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	305								p.K305N(1)		breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcaacagAAGAAGGTGAAAA	0.542																																						ENST00000288462.4																			1	Substitution - Missense(1)	p.K305N(1)	large_intestine(1)	breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(913-915)aaG>aaA		chromosome 9 open reading frame 43							67	63	65					9																	116187673		2203	4300	6503	SO:0001819	synonymous_variant	257169							g.chr9:116187673G>A	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.915G>A	9.37:g.116187673G>A			Somatic				C9orf43_ENST00000374165.1_Silent_p.K305K	p.K305K	NM_152786.1	NP_689999.1	WXS	Illumina GAIIx	Phase_I	Q8TAL5	CI043_HUMAN			10	1361	+			305						Silent	SNP	ENST00000288462.4	37	c.915G>A	CCDS6796.1																																																																																				0.542	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		19	48	0	0	0	1	0	19	48					A	116187673	G	A	116187673	2	1	48	1	0	0	0	0	0	0	0	1	2485	933	33	3		3	C9orf43	9	116187673	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	361	116187673	25025758	2348	6816										
RGS3	5998	broad.mit.edu	37	chr9	116346160	116346160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgcctcctagccaggtctCcctgccagccaaggccctta	8	18	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:116346160C>T	ENST00000374140.2	+	21	2677	c.2468C>T	c.(2467-2469)tCc>tTc	p.S823F	RGS3_ENST00000374134.3_Missense_Mutation_p.S144F|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000343817.5_Missense_Mutation_p.S542F|RGS3_ENST00000462143.1_Missense_Mutation_p.S144F|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000350696.5_Missense_Mutation_p.S823F|RGS3_ENST00000342620.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	823					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						AGCCAGGTCTCCCTGCCAGCC	0.637																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(2467-2469)tCc>tTc		regulator of G-protein signaling 3							104	113	110					9																	116346160		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116346160C>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.2468C>T	9.37:g.116346160C>T	ENSP00000363255:p.Ser823Phe		Somatic				RGS3_ENST00000374134.3_Missense_Mutation_p.S144F|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462143.1_Missense_Mutation_p.S144F|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000350696.5_Missense_Mutation_p.S823F|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.S542F	p.S823F	NM_144488.4	NP_652759.3	WXS	Illumina GAIIx	Phase_I	P49796	RGS3_HUMAN			21	2677	+			823					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.2468C>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087946	0.36855	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000462143;ENST00000374134	T;T;T;T;T	0.58652	0.83;0.83;0.34;0.32;0.32	5.14	-0.244	0.13031	.	1.408720	0.04319	N	0.350338	T	0.40546	0.1121	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.14438	0.006;0.001;0.01;0.001;0.0;0.001	B;B;B;B;B;B	0.10450	0.005;0.002;0.005;0.002;0.0;0.001	T	0.39981	-0.9587	10	0.72032	D	0.01	.	6.6604	0.23011	0.0:0.5348:0.2422:0.223	.	162;719;144;542;713;823	B4DWF9;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	F	823;823;542;144;144	ENSP00000363255:S823F;ENSP00000259406:S823F;ENSP00000340284:S542F;ENSP00000420356:S144F;ENSP00000363249:S144F	ENSP00000340284:S542F	S	+	2	0	RGS3	115385981	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.154000	0.16343	0.294000	0.22547	0.563000	0.77884	TCC		0.637	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		64	129	0	0	0	1	0	64	129					T	116346160	C	T	116346160	3	4	48	1	0	0	0	0	1	0	0	0	13321	855	30	3	2799	3	RGS3	9	116346160	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	158487	116346160	24867271	2349	6817										
COL27A1	85301	broad.mit.edu	37	chr9	117027726	117027726	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcccgggtccctcaggccccCcaggcaccaagggcctccca	10	21	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:117027726C>A	ENST00000356083.3	+	32	3755	c.3364C>A	c.(3364-3366)Cca>Aca	p.P1122T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1122	Collagen-like 8.|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						CTCAGGCCCCCCAGGCACCAA	0.612																																						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.(3364-3366)Cca>Aca		collagen, type XXVII, alpha 1							55	50	52					9																	117027726		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117027726C>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3364C>A	9.37:g.117027726C>A	ENSP00000348385:p.Pro1122Thr		Somatic					p.P1122T	NM_032888.2	NP_116277.2	WXS	Illumina GAIIx	Phase_I	Q8IZC6	CORA1_HUMAN			32	3755	+			1122			Collagen-like 8.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.3364C>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066400	0.36470	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.96651	-4.08	5.25	5.25	0.73442	.	.	.	.	.	D	0.96800	0.8955	L	0.49350	1.555	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	D	0.95050	0.8186	9	0.17369	T	0.5	.	14.3498	0.66694	0.0:1.0:0.0:0.0	.	1122	Q8IZC6	CORA1_HUMAN	T	1122	ENSP00000348385:P1122T	ENSP00000348385:P1122T	P	+	1	0	COL27A1	116067547	0.451000	0.25705	0.930000	0.37139	0.995000	0.86356	2.445000	0.44899	2.460000	0.83146	0.591000	0.81541	CCA		0.612	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		4	35	1	0	0.184627	1	0.185817	4	35					A	117027726	C	A	117027726	3	1	48	1	0	0	0	0	1	0	0	0	3687	623	22	5	3490	5	COL27A1	9	117027726	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	681566	117027726	24185705	2350	6818										
TNC	3371	broad.mit.edu	37	chr9	117845063	117845063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctccttgatggacttgaattTcaggccttcaggtgcaggta	11	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:117845063T>C	ENST00000350763.4	-	5	2566	c.2155A>G	c.(2155-2157)Aaa>Gaa	p.K719E	TNC_ENST00000535648.1_Missense_Mutation_p.K719E|TNC_ENST00000345230.3_Missense_Mutation_p.K719E|TNC_ENST00000341037.4_Missense_Mutation_p.K719E|TNC_ENST00000340094.3_Missense_Mutation_p.K719E|TNC_ENST00000537320.1_Missense_Mutation_p.K719E|TNC_ENST00000423613.2_Missense_Mutation_p.K719E|TNC_ENST00000346706.3_Missense_Mutation_p.K719E|TNC_ENST00000542877.1_Missense_Mutation_p.K719E	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	719	Fibronectin type-III 2. {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						GACTTGAATTTCAGGCCTTCA	0.463																																						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.(2155-2157)Aaa>Gaa		tenascin C							119	104	109					9																	117845063		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117845063T>C		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.2155A>G	9.37:g.117845063T>C	ENSP00000265131:p.Lys719Glu		Somatic				TNC_ENST00000535648.1_Missense_Mutation_p.K719E|TNC_ENST00000423613.2_Missense_Mutation_p.K719E|TNC_ENST00000346706.3_Missense_Mutation_p.K719E|TNC_ENST00000345230.3_Missense_Mutation_p.K719E|TNC_ENST00000542877.1_Missense_Mutation_p.K719E|TNC_ENST00000340094.3_Missense_Mutation_p.K719E|TNC_ENST00000341037.4_Missense_Mutation_p.K719E|TNC_ENST00000537320.1_Missense_Mutation_p.K719E	p.K719E	NM_002160.3	NP_002151.2	WXS	Illumina GAIIx	Phase_I	P24821	TENA_HUMAN			5	2566	-			719			Fibronectin type-III 2.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.2155A>G	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.831228	0.71258	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.88	5.88	0.94601	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.304873	0.38663	N	0.001604	T	0.64057	0.2564	L	0.54323	1.7	0.21984	N	0.999434	P;B	0.45768	0.866;0.155	P;P	0.54544	0.755;0.472	T	0.60717	-0.7208	10	0.59425	D	0.04	.	16.268	0.82600	0.0:0.0:0.0:1.0	.	719;719	E9PC84;P24821	.;TENA_HUMAN	E	719	ENSP00000344400:K719E;ENSP00000438152:K719E;ENSP00000344555:K719E;ENSP00000345861:K719E;ENSP00000265131:K719E;ENSP00000339553:K719E;ENSP00000411406:K719E;ENSP00000443478:K719E;ENSP00000442242:K719E	ENSP00000344400:K719E	K	-	1	0	TNC	116884884	0.858000	0.29795	0.287000	0.24848	0.889000	0.51656	4.932000	0.63476	2.240000	0.73641	0.533000	0.62120	AAA		0.463	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		19	30	0	0	0	1	0	19	30					C	117845063	T	C	117845063	3	2	48	1	0	0	0	0	1	0	0	0	16285	1792	62	4	4546	4	TNC	9	117845063	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	817337	117845063	23368368	2351	6819										
PAPPA	5069	broad.mit.edu	37	chr9	118969875	118969875	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggacaaggaggccctgatgcActtaggtgagtcttagaaac	13	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:118969875A>G	ENST00000328252.3	+	3	1988	c.1619A>G	c.(1618-1620)cAc>cGc	p.H540R	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	540	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						GCCCTGATGCACTTAGGTGAG	0.453																																						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.(1618-1620)cAc>cGc		pregnancy-associated plasma protein A, pappalysin 1							67	62	64					9																	118969875		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118969875A>G		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1619A>G	9.37:g.118969875A>G	ENSP00000330658:p.His540Arg		Somatic				PAPPA_ENST00000534838.1_Intron	p.H540R	NM_002581.3	NP_002572.2	WXS	Illumina GAIIx	Phase_I	Q13219	PAPP1_HUMAN			3	1988	+			540			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.1619A>G	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.315895	0.60524	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.01933	4.55	6.07	4.91	0.64330	Metallopeptidase, catalytic domain (1);	0.043555	0.85682	D	0.000000	T	0.07999	0.0200	L	0.46157	1.445	0.80722	D	1	P;D	0.64830	0.89;0.994	B;D	0.64595	0.245;0.927	T	0.05241	-1.0897	10	0.66056	D	0.02	-18.1584	13.5287	0.61609	0.8698:0.1302:0.0:0.0	.	82;540	E7EMD3;Q13219	.;PAPP1_HUMAN	R	540;82	ENSP00000330658:H540R	ENSP00000330658:H540R	H	+	2	0	PAPPA	118009696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	1.087000	0.41251	0.533000	0.62120	CAC		0.453	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		10	29	0	0	0	1	0	10	29					G	118969875	A	G	118969875	3	3	48	1	0	0	0	0	1	0	0	0	11441	159	6	4	1629	4	PAPPA	9	118969875	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1124812	118969875	22243556	2352	6820										
TLR4	7099	broad.mit.edu	37	chr9	120475079	120475079	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccaaccaggtgcatttaaaGaaattaggcttcataagctg	8	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:120475079G>T	ENST00000355622.6	+	3	774	c.673G>T	c.(673-675)Gaa>Taa	p.E225*	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Nonsense_Mutation_p.E185*	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	225					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TGCATTTAAAGAAATTAGGCT	0.373																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(673-675)Gaa>Taa		toll-like receptor 4							51	56	54					9																	120475079		2187	4296	6483	SO:0001587	stop_gained	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475079G>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.673G>T	9.37:g.120475079G>T	ENSP00000363089:p.Glu225*		Somatic				TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Nonsense_Mutation_p.E185*	p.E225*	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	WXS	Illumina GAIIx	Phase_I	O00206	TLR4_HUMAN			3	774	+			225					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Nonsense_Mutation	SNP	ENST00000355622.6	37	c.673G>T	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333957	0.81801	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	.	.	.	5.77	3.95	0.45737	.	0.773444	0.12285	N	0.482506	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	11.2757	0.49165	0.2023:0.0:0.7977:0.0	.	.	.	.	X	185;225	.	ENSP00000363089:E225X	E	+	1	0	TLR4	119514900	0.923000	0.31300	0.025000	0.17156	0.550000	0.35303	2.036000	0.41165	0.796000	0.33947	0.655000	0.94253	GAA		0.373	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		12	45	1	0	0.00185496	1	0.00194308	12	45					T	120475079	G	T	120475079	4	4	48	1	0	0	0	0	0	1	0	0	15968	943	33	2	683	2	TLR4	9	120475079	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1505204	120475079	20738352	2353	6821										
CDK5RAP2	55755	broad.mit.edu	37	chr9	123201969	123201969	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtcccacacaaaactgtaaTtatggcctcactgcactggg	8	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:123201969T>G	ENST00000349780.4	-	24	3609	c.3430A>C	c.(3430-3432)Att>Ctt	p.I1144L	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.I1112L|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.I1103L|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.I1144L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1144	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AAAACTGTAATTATGGCCTCA	0.443											OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(3430-3432)Att>Ctt		CDK5 regulatory subunit associated protein 2							96	91	93					9																	123201969		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.chr9:123201969T>G	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.3430A>C	9.37:g.123201969T>G	ENSP00000343818:p.Ile1144Leu		Somatic	OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1524	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.I1144L|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.I1103L|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.I1112L	p.I1144L	NM_018249.4	NP_060719.4	WXS	Illumina GAIIx	Phase_I	Q96SN8	CK5P2_HUMAN			24	3609	-			1144			Interaction with MAPRE1.		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.3430A>C	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.926111	0.52759	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.24151	3.83;3.76;3.85;3.76;2.17;1.87	5.67	3.35	0.38373	.	0.191701	0.36778	N	0.002418	T	0.25717	0.0626	M	0.68317	2.08	0.29209	N	0.874684	B;B;B;B;B;B	0.20261	0.005;0.01;0.01;0.043;0.006;0.021	B;B;B;B;B;B	0.24006	0.006;0.009;0.009;0.05;0.004;0.021	T	0.18116	-1.0347	10	0.49607	T	0.09	.	6.8376	0.23945	0.0:0.0774:0.1675:0.7551	.	154;913;1112;1144;1144;538	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	L	1112;1103;1144;1144;538;154;916	ENSP00000354065:I1112L;ENSP00000352258:I1103L;ENSP00000343818:I1144L;ENSP00000353317:I1144L;ENSP00000400395:I538L;ENSP00000409941:I154L	ENSP00000341695:I916L	I	-	1	0	CDK5RAP2	122241790	0.955000	0.32602	0.994000	0.49952	0.983000	0.72400	2.652000	0.46682	0.970000	0.38263	0.460000	0.39030	ATT		0.443	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		33	37	0	0	0	1	0	33	37					G	123201969	T	G	123201969	3	3	48	1	0	0	0	0	1	0	0	0	3148	1493	52	4	2311	4	CDK5RAP2	9	123201969	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2726890	123201969	18011462	2354	6822										
MEGF9	1955	broad.mit.edu	37	chr9	123367548	123367548	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attgccatcatcttccaacaAtcccgaaacatctgcattgg	5	13	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:123367548A>C	ENST00000373930.3	-	6	1840	c.1729T>G	c.(1729-1731)Ttg>Gtg	p.L577V	MEGF9_ENST00000426959.1_Missense_Mutation_p.L614V	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	577						integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TCTTCCAACAATCCCGAAACA	0.483																																						ENST00000373930.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						c.(1729-1731)Ttg>Gtg		multiple EGF-like-domains 9							134	133	133					9																	123367548		1999	4173	6172	SO:0001583	missense	1955					integral to membrane	calcium ion binding	g.chr9:123367548A>C	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"EGF-like-domain, multiple 5"	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1729T>G	9.37:g.123367548A>C	ENSP00000363040:p.Leu577Val		Somatic				MEGF9_ENST00000426959.1_Missense_Mutation_p.L614V	p.L577V	NM_001080497.2	NP_001073966.2	WXS	Illumina GAIIx	Phase_I	Q9H1U4	MEGF9_HUMAN			6	1840	-			577					B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	c.1729T>G	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	A	15.00	2.703638	0.48412	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.37752	1.18;1.45	5.41	0.343	0.16001	.	0.000000	0.64402	D	0.000001	T	0.39886	0.1095	N	0.24115	0.695	0.45867	D	0.998726	D	0.76494	0.999	D	0.75020	0.985	T	0.15925	-1.0420	10	0.72032	D	0.01	-4.9309	9.6238	0.39739	0.6118:0.0:0.3882:0.0	.	614	C9J1K8	.	V	577;614	ENSP00000363040:L577V;ENSP00000392666:L614V	ENSP00000363040:L577V	L	-	1	2	MEGF9	122407369	0.768000	0.28519	0.996000	0.52242	0.989000	0.77384	0.104000	0.15313	-0.176000	0.10707	0.533000	0.62120	TTG		0.483	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		44	75	0	0	0	1	0	44	75					C	123367548	A	C	123367548	3	2	48	1	0	0	0	0	1	0	0	0	9473	98	4	4	83	4	MEGF9	9	123367548	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	165579	123367548	17845883	2355	6823										
PHF19	26147	broad.mit.edu	37	chr9	123620323	123620323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttctccccacaggccaaccGcccagctgcaccaaagtagt	7	18	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:123620323G>A	ENST00000373896.3	-	15	1894	c.1642C>T	c.(1642-1644)Cgg>Tgg	p.R548W	PHF19_ENST00000419155.1_Missense_Mutation_p.R339W|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	548					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGGCCAACCGCCCAGCTGCA	0.557																																						ENST00000373896.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1642-1644)Cgg>Tgg		PHD finger protein 19							139	123	128					9																	123620323		2203	4300	6503	SO:0001583	missense	26147				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr9:123620323G>A	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"Tudor domain containing", "Zinc fingers, PHD-type"	24566	protein-coding gene	gene with protein product	"polycomb-like 3", "tudor domain containing 19B"	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.1642C>T	9.37:g.123620323G>A	ENSP00000363003:p.Arg548Trp		Somatic				PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Missense_Mutation_p.R339W	p.R548W	NM_015651.1	NP_056466.1	WXS	Illumina GAIIx	Phase_I	Q5T6S3	PHF19_HUMAN			15	1894	-			548					Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	37	c.1642C>T	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787232	0.70337	.	.	ENSG00000119403	ENST00000544082;ENST00000373896;ENST00000419155	T;T	0.66280	0.94;-0.2	5.12	1.97	0.26223	.	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72808	-0.4181	10	0.52906	T	0.07	-22.6854	12.4296	0.55567	0.0:0.0:0.429:0.571	.	548	Q5T6S3	PHF19_HUMAN	W	548;548;339	ENSP00000363003:R548W;ENSP00000407433:R339W	ENSP00000363003:R548W	R	-	1	2	PHF19	122660144	0.677000	0.27577	0.933000	0.37362	0.970000	0.65996	0.505000	0.22642	0.515000	0.28320	0.561000	0.74099	CGG		0.557	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		36	45	0	0	0	1	0	36	45					A	123620323	G	A	123620323	3	1	48	1	0	0	0	0	1	0	0	0	11838	1086	38	1	104	1	PHF19	9	123620323	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	252775	123620323	17593108	2356	6824										
OR1J1	347168	broad.mit.edu	37	chr9	125239745	125239745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggtatgcaaaagagcacacGcacaagcgatgacccaggac	12	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125239745G>A	ENST00000259357.2	-	1	490	c.461C>T	c.(460-462)gCg>gTg	p.A154V	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	154						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(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AAGAGCACACGCACAAGCGAT	0.542																																						ENST00000259357.2																			0				endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(460-462)gCg>gTg		olfactory receptor, family 1, subfamily J, member 1							90	78	82					9																	125239745		2203	4300	6503	SO:0001583	missense	347168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125239745G>A	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.461C>T	9.37:g.125239745G>A	ENSP00000259357:p.Ala154Val		Somatic					p.A154V	NM_001004451.1	NP_001004451.1	WXS	Illumina GAIIx	Phase_I	Q8NGS3	OR1J1_HUMAN			1	490	-			154					A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	ENST00000259357.2	37	c.461C>T	CCDS35120.1	.	.	.	.	.	.	.	.	.	.	g	0.058	-1.231824	0.01505	.	.	ENSG00000136834	ENST00000259357	T	0.35605	1.3	4.57	1.74	0.24563	GPCR, rhodopsin-like superfamily (1);	0.344126	0.25178	N	0.032547	T	0.17534	0.0421	N	0.16307	0.4	0.22127	N	0.999346	P	0.35959	0.53	B	0.31245	0.126	T	0.10776	-1.0615	10	0.52906	T	0.07	.	5.3894	0.16236	0.2498:0.146:0.6042:0.0	.	154	Q8NGS3	OR1J1_HUMAN	V	154	ENSP00000259357:A154V	ENSP00000259357:A154V	A	-	2	0	OR1J1	124279566	0.000000	0.05858	0.422000	0.26621	0.005000	0.04900	0.782000	0.26788	0.294000	0.22547	-0.267000	0.10333	GCG		0.542	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1			18	28	0	0	0	1	0	18	28					A	125239745	G	A	125239745	3	1	48	1	0	0	0	0	1	0	0	0	10968	1087	38	1	510	1	OR1J1	9	125239745	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1619422	125239745	15973686	2357	6825										
OR1L4	254973	broad.mit.edu	37	chr9	125486805	125486805	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacatcattaagcactttttCtgtgacacccagcctgtgct	6	13	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125486805C>A	ENST00000259466.1	+	1	537	c.537C>A	c.(535-537)ttC>ttA	p.F179L		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AGCACTTTTTCTGTGACACCC	0.507																																						ENST00000259466.1																			0				breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(535-537)ttC>ttA		olfactory receptor, family 1, subfamily L, member 4							184	183	183					9																	125486805		2202	4281	6483	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486805C>A		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"GPCR / Class A : Olfactory receptors"	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.537C>A	9.37:g.125486805C>A	ENSP00000259466:p.Phe179Leu		Somatic					p.F179L	NM_001005235.1	NP_001005235.1	WXS	Illumina GAIIx	Phase_I	Q8NGR5	OR1L4_HUMAN			1	537	+			179					Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.537C>A	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	15.37	2.813113	0.50527	.	.	ENSG00000136939	ENST00000259466	T	0.00220	8.52	4.01	-0.832	0.10785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000025	T	0.00412	0.0013	M	0.76002	2.32	0.36584	D	0.873732	D	0.69078	0.997	D	0.80764	0.994	T	0.70557	-0.4839	10	0.72032	D	0.01	-26.08	9.6387	0.39826	0.0:0.6221:0.0:0.3779	.	179	Q8NGR5	OR1L4_HUMAN	L	179	ENSP00000259466:F179L	ENSP00000259466:F179L	F	+	3	2	OR1L4	124526626	0.998000	0.40836	0.998000	0.56505	0.860000	0.49131	0.596000	0.24044	-0.037000	0.13646	0.298000	0.19748	TTC		0.507	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			74	227	1	0	1.70349e-48	1	2.47193e-48	74	227					A	125486805	C	A	125486805	3	1	48	1	0	0	0	0	1	0	0	0	10974	912	32	2	539	2	OR1L4	9	125486805	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	247060	125486805	15726626	2358	6826										
OR5C1	392391	broad.mit.edu	37	chr9	125551852	125551852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggcttcatccagacagccaCggtgttagctatcacggtgt	11	11	2	1	rs112939157	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125551852C>T	ENST00000373680.2	+	1	703	c.641C>T	c.(640-642)aCg>aTg	p.T214M		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CAGACAGCCACGGTGTTAGCT	0.577													C|||	2	0.000399361	0	0	5008	,	,		22338	0		0	False		,,,				2504	0.002					ENST00000373680.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(640-642)aCg>aTg		olfactory receptor, family 5, subfamily C, member 1							82	78	79					9																	125551852		2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551852C>T	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"GPCR / Class A : Olfactory receptors"	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.641C>T	9.37:g.125551852C>T	ENSP00000362784:p.Thr214Met		Somatic					p.T214M	NM_001001923.1	NP_001001923.1	WXS	Illumina GAIIx	Phase_I	Q8NGR4	OR5C1_HUMAN			1	703	+			214					B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.641C>T	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612361	0.28712	.	.	ENSG00000148215	ENST00000373680	T	0.37915	1.17	5.26	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37483	U	0.002075	T	0.44705	0.1306	M	0.86740	2.835	0.28547	N	0.911799	B	0.20988	0.05	B	0.20384	0.029	T	0.51317	-0.8721	10	0.87932	D	0	.	11.452	0.50158	0.0:0.916:0.0:0.084	.	214	Q8NGR4	OR5C1_HUMAN	M	214	ENSP00000362784:T214M	ENSP00000362784:T214M	T	+	2	0	OR5C1	124591673	0.004000	0.15560	0.888000	0.34837	0.213000	0.24496	0.471000	0.22100	1.463000	0.47967	-0.126000	0.14955	ACG		0.577	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1			22	36	0	0	0	1	0	22	36					T	125551852	C	T	125551852	3	4	48	1	0	0	0	0	1	0	0	0	11162	536	19	1	643	1	OR5C1	9	125551852	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	65047	125551852	15661579	2359	6827										
PDCL	5082	broad.mit.edu	37	chr9	125585323	125585323	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgatcttctcctggaggtctTtctgtttctgttgctcctcc	8	12	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125585323T>C	ENST00000259467.4	-	3	491	c.326A>G	c.(325-327)aAa>aGa	p.K109R		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	109					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						CTGGAGGTCTTTCTGTTTCTG	0.507																																						ENST00000259467.4																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						c.(325-327)aAa>aGa		phosducin-like							262	218	233					9																	125585323		2203	4300	6503	SO:0001583	missense	5082				signal transduction|visual perception			g.chr9:125585323T>C	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.326A>G	9.37:g.125585323T>C	ENSP00000259467:p.Lys109Arg		Somatic					p.K109R	NM_005388.4	NP_005379.3	WXS	Illumina GAIIx	Phase_I	Q13371	PHLP_HUMAN			3	491	-			109					Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Missense_Mutation	SNP	ENST00000259467.4	37	c.326A>G	CCDS6845.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.116065	0.77323	.	.	ENSG00000136940	ENST00000259467	T	0.56103	0.48	5.98	3.66	0.41972	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);Phosducin, domain 2 (1);	0.084523	0.85682	D	0.000000	T	0.52693	0.1750	M	0.70275	2.135	0.42006	D	0.990918	P;P	0.38395	0.629;0.629	B;B	0.40009	0.316;0.316	T	0.53892	-0.8374	10	0.66056	D	0.02	-26.7785	9.6923	0.40136	0.0:0.1395:0.0:0.8605	.	109;109	Q4VXB6;Q13371	.;PHLP_HUMAN	R	109	ENSP00000259467:K109R	ENSP00000259467:K109R	K	-	2	0	PDCL	124625144	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.998000	0.49465	0.522000	0.28464	-0.371000	0.07208	AAA		0.507	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		58	87	0	0	0	1	0	58	87					C	125585323	T	C	125585323	3	2	48	1	0	0	0	0	1	0	0	0	11635	1841	64	4	587	4	PDCL	9	125585323	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	33471	125585323	15628108	2360	6828										
ZBTB26	57684	broad.mit.edu	37	chr9	125682120	125682120	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagaactgtaacatcacaaaAtttattctcttctcttaatt	3	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125682120A>C	ENST00000373656.3	-	2	167	c.94T>G	c.(94-96)Ttt>Gtt	p.F32V	ZBTB26_ENST00000373654.1_Missense_Mutation_p.F32V	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	32					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						ACATCACAAAATTTATTCTCT	0.328																																						ENST00000373656.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(94-96)Ttt>Gtt		zinc finger and BTB domain containing 26							41	40	40					9																	125682120		2203	4298	6501	SO:0001583	missense	57684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125682120A>C	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23383	protein-coding gene	gene with protein product			"zinc finger protein 481"	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.94T>G	9.37:g.125682120A>C	ENSP00000362760:p.Phe32Val		Somatic				ZBTB26_ENST00000373654.1_Missense_Mutation_p.F32V	p.F32V	NM_020924.2	NP_065975.1	WXS	Illumina GAIIx	Phase_I	Q9HCK0	ZBT26_HUMAN			2	167	-			32					B3KQ53|Q8WTR1	Missense_Mutation	SNP	ENST00000373656.3	37	c.94T>G	CCDS6847.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.802203	0.31869	.	.	ENSG00000171448	ENST00000373656;ENST00000373654	T;T	0.69685	-0.42;-0.42	5.25	5.25	0.73442	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.85173	0.5636	M	0.91561	3.22	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	D	0.88546	0.3113	10	0.66056	D	0.02	.	15.1853	0.72996	1.0:0.0:0.0:0.0	.	32	Q9HCK0	ZBT26_HUMAN	V	32	ENSP00000362760:F32V;ENSP00000362758:F32V	ENSP00000362758:F32V	F	-	1	0	ZBTB26	124721941	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	8.962000	0.93254	1.984000	0.57885	0.533000	0.62120	TTT		0.328	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924		10	15	0	0	0	1	0	10	15					C	125682120	A	C	125682120	3	2	48	1	0	0	0	0	1	0	0	0	17548	101	4	4	1235	4	ZBTB26	9	125682120	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	96797	125682120	15531311	2361	6829										
NR6A1	2649	broad.mit.edu	37	chr9	127302467	127302467	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgatttcttcttccgatatCtttgacaaggaattgagaca	7	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:127302467C>A	ENST00000487099.2	-	5	599		c.e5-1		NR6A1_ENST00000416460.2_Splice_Site|NR6A1_ENST00000344523.4_Splice_Site|NR6A1_ENST00000373584.3_Splice_Site	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1						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						CTTCCGATATCTTTGACAAGG	0.453																																					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.e5-1		nuclear receptor subfamily 6, group A, member 1							188	160	169					9																	127302467		2203	4300	6503	SO:0001630	splice_region_variant	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.chr9:127302467C>A	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.442-1G>T	9.37:g.127302467C>A			Somatic				NR6A1_ENST00000373584.3_Splice_Site|NR6A1_ENST00000344523.4_Splice_Site|NR6A1_ENST00000416460.2_Splice_Site		NM_001278546.1	NP_001265475.1	WXS	Illumina GAIIx	Phase_I	Q15406	NR6A1_HUMAN			5	599	-								O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Splice_Site	SNP	ENST00000487099.2	37		CCDS35137.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633151	0.87660	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4659	0.94939	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NR6A1	126342288	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.263000	0.78421	2.840000	0.97914	0.655000	0.94253	.		0.453	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4		Intron	34	66	1	0	1.36161e-19	1	1.85609e-19	34	66					A	127302467	C	A	127302467	5	1	48	1	0	0	0	0	0	0	1	0	10646	927	32	2	1025	2	NR6A1	9	127302467	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1620347	127302467	13910964	2362	6830										
PBX3	5090	broad.mit.edu	37	chr9	128692040	128692040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatggtgggcatcatccatcGaaaatttagttccattcaga	8	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:128692040G>A	ENST00000373489.5	+	4	639	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373483.2_Missense_Mutation_p.R27Q|PBX3_ENST00000342287.5_Missense_Mutation_p.R208Q|PBX3_ENST00000447726.2_Missense_Mutation_p.R133Q|PBX3_ENST00000373487.4_Missense_Mutation_p.R208Q	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	208					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						ATCATCCATCGAAAATTTAGT	0.393																																						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.(622-624)cGa>cAa		pre-B-cell leukemia homeobox 3							153	144	147					9																	128692040		2203	4300	6503	SO:0001583	missense	5090				anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	g.chr9:128692040G>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.623G>A	9.37:g.128692040G>A	ENSP00000362588:p.Arg208Gln		Somatic				PBX3_ENST00000447726.2_Missense_Mutation_p.R133Q|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373483.2_Missense_Mutation_p.R27Q|PBX3_ENST00000373489.5_Missense_Mutation_p.R208Q|PBX3_ENST00000342287.5_Missense_Mutation_p.R208Q	p.R208Q			WXS	Illumina GAIIx	Phase_I	P40426	PBX3_HUMAN			4	703	+			208					E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	ENST00000373489.5	37	c.623G>A	CCDS6865.1	.	.	.	.	.	.	.	.	.	.	G	35	5.547738	0.96488	.	.	ENSG00000167081	ENST00000373492;ENST00000373489;ENST00000342287;ENST00000373487;ENST00000373483;ENST00000373482;ENST00000447726;ENST00000538998	T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38	5.69	5.69	0.88448	PBX (1);	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	M	0.74258	2.255	0.80722	D	1	P;D;D	0.89917	0.885;1.0;0.994	P;D;P	0.87578	0.503;0.998;0.862	T	0.60984	-0.7154	10	0.45353	T	0.12	.	19.8141	0.96558	0.0:0.0:1.0:0.0	.	119;208;208	B7Z5Q0;Q5JS98;P40426	.;.;PBX3_HUMAN	Q	27;208;208;208;27;27;133;119	ENSP00000362588:R208Q;ENSP00000341990:R208Q;ENSP00000362586:R208Q;ENSP00000362582:R27Q;ENSP00000387456:R133Q;ENSP00000444005:R119Q	ENSP00000341990:R208Q	R	+	2	0	PBX3	127731861	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.697000	0.92050	0.555000	0.69702	CGA		0.393	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1			9	85	0	0	0	1	0	9	85					A	128692040	G	A	128692040	3	1	48	1	0	0	0	0	1	0	0	0	11503	1058	37	1	637	1	PBX3	9	128692040	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1389573	128692040	12521391	2363	6831										
FAM125B	89853	broad.mit.edu	37	chr9	129102809	129102809	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagtccaccatgcctgaagTcaaagacctctcagaagcct	7	15	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:129102809T>G	ENST00000361171.3	+	2	185	c.104T>G	c.(103-105)gTc>gGc	p.V35G	MVB12B_ENST00000436593.3_Missense_Mutation_p.V20G|MVB12B_ENST00000545391.1_Missense_Mutation_p.V35G	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	35					protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										ATGCCTGAAGTCAAAGACCTC	0.468																																						ENST00000361171.3																			0											c.(103-105)gTc>gGc		multivesicular body subunit 12B							113	107	109					9																	129102809		2203	4300	6503	SO:0001583	missense	89853							g.chr9:129102809T>G	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 28", "family with sequence similarity 125, member B"	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.104T>G	9.37:g.129102809T>G	ENSP00000354772:p.Val35Gly		Somatic				MVB12B_ENST00000436593.3_Missense_Mutation_p.V20G|MVB12B_ENST00000545391.1_Missense_Mutation_p.V35G	p.V35G	NM_033446.2	NP_258257.1	WXS	Illumina GAIIx	Phase_I					2	185	+								Q8N6S7	Missense_Mutation	SNP	ENST00000361171.3	37	c.104T>G	CCDS35142.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.338085	0.81911	.	.	ENSG00000196814	ENST00000361171;ENST00000545391;ENST00000402437;ENST00000436593	T;T;T;T	0.58506	0.36;0.33;0.41;0.43	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	N	0.19112	0.55	0.80722	D	1	P;D	0.71674	0.895;0.998	B;D	0.76071	0.43;0.987	T	0.68458	-0.5403	10	0.87932	D	0	4.442	14.2829	0.66224	0.0:0.0:0.0:1.0	.	20;35	B7Z1P9;Q9H7P6	.;F125B_HUMAN	G	35;35;20;20	ENSP00000354772:V35G;ENSP00000441988:V35G;ENSP00000384751:V20G;ENSP00000401379:V20G	ENSP00000354772:V35G	V	+	2	0	FAM125B	128142630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.241000	0.78201	2.022000	0.59522	0.519000	0.50382	GTC		0.468	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525		5	75	0	0	0	1	0	5	75					G	129102809	T	G	129102809	3	3	48	1	0	0	0	0	1	0	0	0	5433	1667	58	4	110	4	FAM125B	9	129102809	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	410769	129102809	12110622	2364	6832										
LMX1B	4010	broad.mit.edu	37	chr9	129453169	129453169	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagatcgcccccaccgagttCgtgatgcgggcgctggagtg	15	12	0	2	rs540034621		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:129453169C>T	ENST00000373474.4	+	3	388	c.381C>T	c.(379-381)ttC>ttT	p.F127F	LMX1B_ENST00000425646.2_Silent_p.F104F|LMX1B_ENST00000561065.1_Silent_p.F104F|LMX1B_ENST00000355497.5_Silent_p.F127F|LMX1B_ENST00000526117.1_Silent_p.F127F			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	127	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CCACCGAGTTCGTGATGCGGG	0.637									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(379-381)ttC>ttT		LIM homeobox transcription factor 1, beta							57	50	52					9																	129453169		2203	4300	6503	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.chr9:129453169C>T	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"Homeoboxes / LIM class"	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.381C>T	9.37:g.129453169C>T			Somatic				LMX1B_ENST00000373474.4_Silent_p.F127F|LMX1B_ENST00000561065.1_Silent_p.F104F|LMX1B_ENST00000425646.2_Silent_p.F104F|LMX1B_ENST00000526117.1_Silent_p.F127F	p.F127F	NM_001174146.1	NP_001167617.1	WXS	Illumina GAIIx	Phase_I	O60663	LMX1B_HUMAN			3	388	+			104			LIM zinc-binding 2.		F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	ENST00000373474.4	37	c.381C>T	CCDS55342.1																																																																																				0.637	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			16	23	0	0	0	1	0	16	23					T	129453169	C	T	129453169	2	4	48	1	0	0	0	0	0	0	0	1	8871	883	31	1		1	LMX1B	9	129453169	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	350360	129453169	11760262	2365	6833										
GLE1	2733	broad.mit.edu	37	chr9	131302553	131302553	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgtctttctctccctgtaGaattgaagctatcacaagct	7	10	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:131302553G>T	ENST00000309971.4	+	15	2070		c.e15-1		RP11-216B9.6_ENST00000426704.1_RNA|GLE1_ENST00000539582.1_Splice_Site|RP11-216B9.6_ENST00000434999.1_RNA	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						TCTCCCTGTAGAATTGAAGCT	0.493																																						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.e15-1		GLE1 RNA export mediator							211	170	184					9																	131302553		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.chr9:131302553G>T	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"GLE1 (yeast homolog)-like, RNA export mediator", "GLE1 RNA export mediator-like (yeast)", "GLE1 RNA export mediator (yeast)", "lethal congenital contracture syndrome 1", "GLE1 RNA export mediator homolog (yeast)"	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1965-1G>T	9.37:g.131302553G>T			Somatic				RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Splice_Site		NM_001003722.1	NP_001003722.1	WXS	Illumina GAIIx	Phase_I	Q53GS7	GLE1_HUMAN			15	2070	+								O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Splice_Site	SNP	ENST00000309971.4	37		CCDS35154.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130173	0.77549	.	.	ENSG00000119392	ENST00000309971;ENST00000539582	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5677	0.84603	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLE1	130342374	1.000000	0.71417	0.997000	0.53966	0.842000	0.47809	8.894000	0.92506	2.652000	0.90054	0.655000	0.94253	.		0.493	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722	Intron	9	28	1	0	1.12685e-05	1	1.24509e-05	9	28					T	131302553	G	T	131302553	5	4	48	1	0	0	0	0	0	0	1	0	6443	956	33	2	2038	2	GLE1	9	131302553	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1849384	131302553	9910878	2366	6834										
IER5L	389792	broad.mit.edu	37	chr9	131939486	131939486	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcgccctggccacagcagggGcagtgggcggaggcgcagca	19	13	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:131939486G>A	ENST00000372491.2	-	1	1054	c.846C>T	c.(844-846)tgC>tgT	p.C282C	RP11-247A12.8_ENST00000599172.2_RNA|RP11-247A12.2_ENST00000372490.3_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	282													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CACAGCAGGGGCAGTGGGCGG	0.682																																						ENST00000372491.2																			0											c.(844-846)tgC>tgT		immediate early response 5-like							19	23	22					9																	131939486		1954	4103	6057	SO:0001819	synonymous_variant	389792							g.chr9:131939486G>A	BC013070	CCDS43888.1	9q34.11	2013-09-20			ENSG00000188483	ENSG00000188483			23679	protein-coding gene	gene with protein product							Standard	NM_203434		Approved	bA247A12.2	uc010myt.1	Q5T953	OTTHUMG00000020773	ENST00000372491.2:c.846C>T	9.37:g.131939486G>A			Somatic				RP11-247A12.2_ENST00000372490.3_RNA|RP11-247A12.8_ENST00000599172.2_RNA	p.C282C	NM_203434.2	NP_982258.2	WXS	Illumina GAIIx	Phase_I	Q5T953	IER5L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	1	1054	-		Ovarian(14;0.0448)|Medulloblastoma(224;0.235)	282					Q6P3E2	Silent	SNP	ENST00000372491.2	37	c.846C>T	CCDS43888.1																																																																																				0.682	IER5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054556.2			6	18	0	0	0	1	0	6	18					A	131939486	G	A	131939486	2	1	48	1	0	0	0	0	0	0	0	1	7518	1195	42	3		3	IER5L	9	131939486	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	636933	131939486	9273945	2367	6835										
ASB6	140459	broad.mit.edu	37	chr9	132400459	132400459	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagaccagcaggacgcaccGtgcagggagcagttgtaggc	15	12	0	1	rs113686617	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:132400459G>T	ENST00000277458.4	-	6	1041	c.876C>A	c.(874-876)caC>caA	p.H292Q	ASB6_ENST00000450050.2_Missense_Mutation_p.H213Q|RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	292					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)				AGGACGCACCGTGCAGGGAGC	0.597																																						ENST00000277458.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15						c.(874-876)caC>caA		ankyrin repeat and SOCS box containing 6							57	53	55					9																	132400459		2203	4300	6503	SO:0001583	missense	140459				intracellular signal transduction	cytoplasm		g.chr9:132400459G>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.876C>A	9.37:g.132400459G>T	ENSP00000277458:p.His292Gln		Somatic				ASB6_ENST00000277459.4_3'UTR|ASB6_ENST00000450050.2_Missense_Mutation_p.H213Q	p.H292Q	NM_017873.3	NP_060343.1	WXS	Illumina GAIIx	Phase_I	Q9NWX5	ASB6_HUMAN			6	1041	-		Ovarian(14;0.00556)	292					Q5SZB7|Q9BV15	Missense_Mutation	SNP	ENST00000277458.4	37	c.876C>A	CCDS6924.1	.	.	.	.	.	.	.	.	.	.	g	12.97	2.098916	0.37048	.	.	ENSG00000148331	ENST00000277458;ENST00000450050	T;T	0.61510	0.1;0.1	4.65	-8.79	0.00820	.	0.000000	0.85682	D	0.000000	T	0.56688	0.2002	L	0.32530	0.975	0.51767	D	0.999932	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.67725	0.953;0.953;0.953	T	0.73375	-0.4002	10	0.54805	T	0.06	-19.2768	15.6172	0.76775	0.4982:0.0:0.5018:0.0	.	213;292;292	B4DRC4;A8K9U2;Q9NWX5	.;.;ASB6_HUMAN	Q	292;213	ENSP00000277458:H292Q;ENSP00000416172:H213Q	ENSP00000277458:H292Q	H	-	3	2	ASB6	131440280	0.000000	0.05858	0.029000	0.17559	0.195000	0.23768	-1.840000	0.01684	-1.587000	0.01630	-1.562000	0.00884	CAC		0.597	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		30	40	1	0	3.73988e-18	1	5.05028e-18	30	40					T	132400459	G	T	132400459	3	4	48	1	0	0	0	0	1	0	0	0	1027	1136	40	5	393	5	ASB6	9	132400459	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	460973	132400459	8812972	2368	6836										
ABL1	25	broad.mit.edu	37	chr9	133748273	133748273	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcacccgggagcccccgttcTatatcatcactgagttcatg	9	14	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:133748273T>C	ENST00000318560.5	+	6	1315	c.934T>C	c.(934-936)Tat>Cat	p.Y312H		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	312	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)	GCCCCCGTTCTATATCATCAC	0.557			"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.(934-936)Tat>Cat		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						81	82	82					9																	133748273		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.chr9:133748273T>C	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.934T>C	9.37:g.133748273T>C	ENSP00000323315:p.Tyr312His		Somatic					p.Y312H	NM_005157.4	NP_005148.2	WXS	Illumina GAIIx	Phase_I	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	6	1315	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	312			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.934T>C	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	T	33	5.204360	0.95033	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.65732	-0.17;-0.17	6.04	6.04	0.98038	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	0.75932	0.3917	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77887	-0.2420	10	0.87932	D	0	.	15.7697	0.78157	0.0:0.0:0.0:1.0	.	312;349	P00519;Q59FK4	ABL1_HUMAN;.	H	127;331;312	ENSP00000361423:Y331H;ENSP00000323315:Y312H	ENSP00000323315:Y312H	Y	+	1	0	ABL1	132738094	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	TAT		0.557	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		17	70	0	0	0	1	0	17	70					C	133748273	T	C	133748273	3	2	48	1	0	0	0	0	1	0	0	0	92	1522	53	4	1096	4	ABL1	9	133748273	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1347814	133748273	7465158	2369	6837										
FIBCD1	84929	broad.mit.edu	37	chr9	133787197	133787197	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acctagccagtgctccccggTgagcctgccaaagccgtctc	10	17	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:133787197T>C	ENST00000372338.4	-	5	1170	c.928A>G	c.(928-930)Acc>Gcc	p.T310A	FIBCD1_ENST00000253018.4_Missense_Mutation_p.T152A|FIBCD1_ENST00000448616.1_Missense_Mutation_p.T310A|FIBCD1_ENST00000372337.2_Missense_Mutation_p.T152A	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	310	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)		TGCTCCCCGGTGAGCCTGCCA	0.667																																						ENST00000372338.4																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12						c.(928-930)Acc>Gcc		fibrinogen C domain containing 1							38	35	36					9																	133787197		2200	4298	6498	SO:0001583	missense	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133787197T>C	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.928A>G	9.37:g.133787197T>C	ENSP00000361413:p.Thr310Ala		Somatic				FIBCD1_ENST00000372337.2_Missense_Mutation_p.T152A|FIBCD1_ENST00000253018.4_Missense_Mutation_p.T152A|FIBCD1_ENST00000448616.1_Missense_Mutation_p.T310A	p.T310A	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)	5	1170	-	all_hematologic(7;0.0028)		310			Fibrinogen C-terminal.		A3KFK0|Q6UXK6|Q96SJ7	Missense_Mutation	SNP	ENST00000372338.4	37	c.928A>G	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.473042	0.63737	.	.	ENSG00000130720	ENST00000448616;ENST00000372338;ENST00000372337;ENST00000253018	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-0.94	5.17	3.98	0.46160	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.71476	0.3344	L	0.33137	0.985	0.50039	D	0.999843	B	0.29341	0.242	B	0.37198	0.243	T	0.64223	-0.6458	10	0.13108	T	0.6	.	11.1838	0.48644	0.0:0.0:0.1534:0.8466	.	310	Q8N539	FBCD1_HUMAN	A	310;310;152;152	ENSP00000414501:T310A;ENSP00000361413:T310A;ENSP00000361412:T152A;ENSP00000253018:T152A	ENSP00000253018:T152A	T	-	1	0	FIBCD1	132777018	1.000000	0.71417	0.994000	0.49952	0.548000	0.35241	3.382000	0.52463	1.947000	0.56498	0.397000	0.26171	ACC		0.667	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2	NM_032843		5	9	0	0	0	1	0	5	9					C	133787197	T	C	133787197	3	2	48	1	0	0	0	0	1	0	0	0	5892	1696	59	4	469	4	FIBCD1	9	133787197	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	38924	133787197	7426234	2370	6838										
LAMC3	10319	broad.mit.edu	37	chr9	133928021	133928021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccctgaggcactctagcctgTctggcccccaggatgccggg	13	16	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:133928021T>C	ENST00000361069.4	+	10	1907	c.1774T>C	c.(1774-1776)Tct>Cct	p.S592P	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	592	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTCTAGCCTGTCTGGCCCCCA	0.637											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(1774-1776)Tct>Cct		laminin, gamma 3							24	27	26					9																	133928021		2203	4299	6502	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133928021T>C	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1774T>C	9.37:g.133928021T>C	ENSP00000354360:p.Ser592Pro		Somatic	OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1606	LAMC3_ENST00000480883.1_Intron	p.S592P	NM_006059.3	NP_006050.3	WXS	Illumina GAIIx	Phase_I	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	10	1907	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	592			Laminin IV type A.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.1774T>C	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.256833	0.22965	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.32515	1.45	5.01	-2.54	0.06307	Laminin B type IV (2);	1.057870	0.07302	N	0.874228	T	0.11580	0.0282	N	0.10972	0.075	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.29488	-1.0010	10	0.15066	T	0.55	.	0.9576	0.01389	0.2143:0.351:0.1495:0.2852	.	592	Q9Y6N6	LAMC3_HUMAN	P	592	ENSP00000354360:S592P	ENSP00000347156:S592P	S	+	1	0	LAMC3	132917842	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.068000	0.11561	-0.276000	0.09206	0.459000	0.35465	TCT		0.637	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		11	42	0	0	0	1	0	11	42					C	133928021	T	C	133928021	3	2	48	1	0	0	0	0	1	0	0	0	8625	1667	58	4	1812	4	LAMC3	9	133928021	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	140824	133928021	7285410	2371	6839										
TTF1	7270	broad.mit.edu	37	chr9	135277008	135277008	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaatcatcaccagacactcGtgcccttttgacagacgtaa	6	12	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:135277008G>A	ENST00000334270.2	-	2	1240	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	401			R -> Q (in dbSNP:rs3739916).		chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CCAGACACTCGTGCCCTTTTG	0.453																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1201-1203)Cga>Tga		transcription termination factor, RNA polymerase I							224	184	197					9																	135277008		2203	4300	6503	SO:0001587	stop_gained	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277008G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1201C>T	9.37:g.135277008G>A	ENSP00000333920:p.Arg401*		Somatic					p.R401*	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	WXS	Illumina GAIIx	Phase_I	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	1240	-		Myeloproliferative disorder(178;0.204)	401		R -> Q (in dbSNP:rs3739916).			A1L160|Q4VXF3|Q58EY2|Q6P5T5	Nonsense_Mutation	SNP	ENST00000334270.2	37	c.1201C>T	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.864247	0.71949	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	.	.	.	4.95	-6.85	0.01681	.	57.353600	0.00166	N	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	10.4661	0.44609	0.0:0.1471:0.6084:0.2445	.	.	.	.	X	401	.	ENSP00000245588:R401X	R	-	1	2	TTF1	134266829	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.161000	0.01278	-1.199000	0.02666	-0.714000	0.03626	CGA		0.453	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		29	72	0	0	0	1	0	29	72					A	135277008	G	A	135277008	4	1	48	1	0	0	0	0	0	1	0	0	16733	1153	40	1	1556	1	TTF1	9	135277008	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1348987	135277008	5936423	2372	6840										
TSC1	7248	broad.mit.edu	37	chr9	135796771	135796771	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcgagggtccagttcatggTccttggatccagtcactaat	10	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:135796771T>C	ENST00000298552.3	-	8	937	c.716A>G	c.(715-717)gAc>gGc	p.D239G	TSC1_ENST00000475903.1_5'Flank|TSC1_ENST00000403810.1_Missense_Mutation_p.D239G|TSC1_ENST00000545250.1_Missense_Mutation_p.D188G|TSC1_ENST00000440111.2_Missense_Mutation_p.D239G	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	239					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CAGTTCATGGTCCTTGGATCC	0.408			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000298552.3			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"D, Mis, N, F, S"	tuberous sclerosis 1 gene			"E, O"		"hamartoma, renal cell"			1	Unknown(1)	p.?(1)	bone(1)	NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65						c.(715-717)gAc>gGc		tuberous sclerosis 1							101	96	98					9																	135796771		2203	4300	6503	SO:0001583	missense	0	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135796771T>C	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.716A>G	9.37:g.135796771T>C	ENSP00000298552:p.Asp239Gly		Somatic				TSC1_ENST00000545250.1_Missense_Mutation_p.D188G|TSC1_ENST00000440111.2_Missense_Mutation_p.D239G|TSC1_ENST00000403810.1_Missense_Mutation_p.D239G	p.D239G	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	WXS	Illumina GAIIx	Phase_I	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	8	937	-			239					B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.716A>G	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	T	32	5.137624	0.94517	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250;ENST00000537172;ENST00000424271;ENST00000403810	D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.94732	0.8300	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.996;0.999;0.999;1.0;0.999	D;D;D;D;D;D	0.97110	1.0;0.988;0.984;0.989;1.0;0.995	D	0.95284	0.8389	10	0.87932	D	0	-21.9107	15.6258	0.76855	0.0:0.0:0.0:1.0	.	118;188;239;239;239;239	B7Z604;B7Z897;Q86WV8;Q59IT9;Q32NF0;Q92574	.;.;.;.;.;TSC1_HUMAN	G	239;239;188;118;118;239	ENSP00000298552:D239G;ENSP00000394524:D239G;ENSP00000444017:D188G;ENSP00000438099:D118G;ENSP00000386093:D239G	ENSP00000298552:D239G	D	-	2	0	TSC1	134786592	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.284000	0.76573	0.528000	0.53228	GAC		0.408	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			16	22	0	0	0	1	0	16	22					C	135796771	T	C	135796771	3	2	48	1	0	0	0	0	1	0	0	0	16620	1667	58	4	2842	4	TSC1	9	135796771	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	519763	135796771	5416660	2373	6841										
RALGDS	5900	broad.mit.edu	37	chr9	135983592	135983592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagagctggcgctggagccGattctagtcccacagctggc	13	14	1	1	rs151046197		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:135983592G>A	ENST00000372050.3	-	6	1001	c.980C>T	c.(979-981)tCg>tTg	p.S327L	RALGDS_ENST00000393160.3_Missense_Mutation_p.S272L|RALGDS_ENST00000372047.3_Missense_Mutation_p.S315L|RALGDS_ENST00000542690.1_Missense_Mutation_p.S398L|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372062.3_Missense_Mutation_p.S298L|RALGDS_ENST00000393157.3_Missense_Mutation_p.S326L	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	327					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)		CGCTGGAGCCGATTCTAGTCC	0.597			T	CIITA	"PMBL, Hodgkin Lymphona, "																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"PMBL, Hodgkin Lymphona, "		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(814-816)tCg>tTg		ral guanine nucleotide dissociation stimulator		G	LEU/SER,LEU/SER	0,4402		0,0,2201	28	31	30		815,980	0.3	0	9	dbSNP_134	30	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	RALGDS	NM_001042368.1,NM_006266.2	145,145	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	272/860,327/915	135983592	1,13001	2201	4300	6501	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.chr9:135983592G>A	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.980C>T	9.37:g.135983592G>A	ENSP00000361120:p.Ser327Leu		Somatic				RALGDS_ENST00000372062.3_Missense_Mutation_p.S298L|RALGDS_ENST00000542690.1_Missense_Mutation_p.S398L|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372050.3_Missense_Mutation_p.S327L|RALGDS_ENST00000372047.3_Missense_Mutation_p.S315L|RALGDS_ENST00000393157.3_Missense_Mutation_p.S326L	p.S272L	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)	6	1168	-			327					B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.815C>T	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	G	8.051	0.765978	0.15983	0.0	1.16E-4	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.37584	1.7;1.19;1.71;1.68;1.85;1.19	4.29	0.276	0.15663	Ras guanine nucleotide exchange factor, domain (1);	1.577830	0.03392	N	0.201995	T	0.19644	0.0472	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.0;0.001;0.001;0.0;0.0;0.0;0.0	T	0.18053	-1.0349	10	0.15499	T	0.54	.	8.0752	0.30712	0.33:0.0:0.67:0.0	.	398;298;327;315;272;326;315;327	F5H6M6;E7ER93;Q12967-2;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;.;GNDS_HUMAN	L	327;315;272;96;326;398;298	ENSP00000361120:S327L;ENSP00000361117:S315L;ENSP00000376867:S272L;ENSP00000376864:S326L;ENSP00000437518:S398L;ENSP00000361132:S298L	ENSP00000361117:S315L	S	-	2	0	RALGDS	134973413	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.058000	0.30504	-0.048000	0.13401	-1.130000	0.01982	TCG		0.597	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		20	19	0	0	0	1	0	20	19					A	135983592	G	A	135983592	3	1	48	1	0	0	0	0	1	0	0	0	13031	1059	37	1	1816	1	RALGDS	9	135983592	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	186821	135983592	5229839	2374	6842										
ABO	28	broad.mit.edu	37	chr9	136135231	136135231	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgacattataccttggcaaCgagacatgctgcagatggtc	10	10	0	3	rs371449103		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:136135231C>T	ENST00000453660.2	-	0	206							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		ACCTTGGCAACGAGACATGCT	0.517																																						ENST00000453660.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11								ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)		C		0,4252		0,0,2126	110	107	108		195	-2.6	0	9		108	1,8461		0,1,4230	no	coding-synonymous	ABO	NM_020469.2		0,1,6356	TT,TC,CC		0.0118,0.0,0.0079		65/355	136135231	1,12713	2126	4231	6357			28				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136135231C>T	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"Blood group antigens", "Glycosyltransferase family 6 domain containing"	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136135231C>T			Somatic								WXS	Illumina GAIIx	Phase_I	P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	0	206	-								B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP	ENST00000453660.2	37																																																																																						0.517	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		11	70	0	0	0	1	0	11	70					T	136135231	C	T	136135231	1	4	48	0	1	0	0	0	0	0	0	0	97	523	19	1		1	ABO	9	136135231	RNA	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	151639	136135231	5078200	2375	6843										
C9orf96	169436	broad.mit.edu	37	chr9	136268898	136268898	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttggccacctaccctgcgGatggggaaatggcagaagcc	14	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:136268898G>T	ENST00000371957.3	+	15	1656	c.1549G>T	c.(1549-1551)Gat>Tat	p.D517Y	C9orf96_ENST00000371955.1_Missense_Mutation_p.D50Y	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		517							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)		CTACCCTGCGGATGGGGAAAT	0.652																																						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.(1549-1551)Gat>Tat		chromosome 9 open reading frame 96							44	43	43					9																	136268898		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136268898G>T																												ENST00000371957.3:c.1549G>T	9.37:g.136268898G>T	ENSP00000361025:p.Asp517Tyr		Somatic				C9orf96_ENST00000371955.1_Missense_Mutation_p.D50Y	p.D517Y	NM_153710.3	NP_714921.3	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)	15	1656	+			517					Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.1549G>T	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043544	0.36085	.	.	ENSG00000198870	ENST00000371957;ENST00000371955	T;T	0.58358	0.34;0.46	4.6	4.6	0.57074	Armadillo-like helical (1);Armadillo-type fold (1);	0.079916	0.51477	D	0.000096	T	0.66982	0.2845	L	0.59436	1.845	0.09310	N	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.59500	-0.7443	10	0.66056	D	0.02	-31.8761	12.7755	0.57445	0.0:0.0:1.0:0.0	.	517	Q8NE28	SGK71_HUMAN	Y	517;50	ENSP00000361025:D517Y;ENSP00000361023:D50Y	ENSP00000361023:D50Y	D	+	1	0	C9orf96	135258719	0.339000	0.24784	0.034000	0.17996	0.075000	0.17131	1.594000	0.36697	2.354000	0.79902	0.561000	0.74099	GAT		0.652	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			10	22	1	0	0.00621372	1	0.0064192	10	22					T	136268898	G	T	136268898	3	4	48	1	0	0	0	0	1	0	0	0	2510	1174	41	2	1607	2	C9orf96	9	136268898	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	133667	136268898	4944533	2376	6844										
DBH	1621	broad.mit.edu	37	chr9	136507486	136507486	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcagacgcgtgcaccatggAggtccaagctcccaatatcc	9	15	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:136507486A>C	ENST00000393056.2	+	3	656	c.644A>C	c.(643-645)gAg>gCg	p.E215A		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	215					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)	TGCACCATGGAGGTCCAAGCT	0.587																																						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.(643-645)gAg>gCg		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						71	65	67					9																	136507486		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.chr9:136507486A>C	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.644A>C	9.37:g.136507486A>C	ENSP00000376776:p.Glu215Ala		Somatic					p.E215A	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)	3	656	+			215					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.644A>C	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	A	13.27	2.185965	0.38609	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.37915	1.17;1.17	4.67	4.67	0.58626	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.281830	0.39985	N	0.001213	T	0.60090	0.2242	M	0.89414	3.03	0.49483	D	0.999792	P	0.34743	0.466	P	0.52066	0.689	T	0.65212	-0.6223	10	0.66056	D	0.02	-26.7184	10.3432	0.43891	0.8529:0.0:0.0:0.1471	.	215	P09172	DOPO_HUMAN	A	215;152;152	ENSP00000376776:E215A;ENSP00000263611:E152A	ENSP00000263611:E152A	E	+	2	0	DBH	135497307	1.000000	0.71417	0.890000	0.34922	0.014000	0.08584	6.732000	0.74790	1.871000	0.54225	0.402000	0.26972	GAG		0.587	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		17	35	0	0	0	1	0	17	35					C	136507486	A	C	136507486	3	2	48	1	0	0	0	0	1	0	0	0	4252	304	11	4	654	4	DBH	9	136507486	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	238588	136507486	4705945	2377	6845										
OBP2A	29991	broad.mit.edu	37	chr9	138440590	138440590	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caacctggaggccctggaagAatttaagaaattggtgcagc	12	8	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138440590A>C	ENST00000539850.1	+	5	451	c.425A>C	c.(424-426)gAa>gCa	p.E142A	OBP2A_ENST00000371776.1_Missense_Mutation_p.E142A|OBP2A_ENST00000342114.4_Missense_Mutation_p.E119A|OBP2A_ENST00000340780.3_Missense_Mutation_p.N164H			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	142					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GCCCTGGAAGAATTTAAGAAA	0.597																																						ENST00000539850.1																			0				endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(424-426)gAa>gCa		odorant binding protein 2A							107	99	102					9																	138440590		2203	4300	6503	SO:0001583	missense	29991				response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:138440590A>C	AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"Lipocalins"	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.425A>C	9.37:g.138440590A>C	ENSP00000441028:p.Glu142Ala		Somatic				OBP2A_ENST00000340780.3_Missense_Mutation_p.N164H|OBP2A_ENST00000342114.4_Missense_Mutation_p.E119A|OBP2A_ENST00000371776.1_Missense_Mutation_p.E142A	p.E142A			WXS	Illumina GAIIx	Phase_I	Q9NY56	OBP2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	5	451	+			142					Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	ENST00000539850.1	37	c.425A>C	CCDS6992.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	12.35|12.35	1.910382|1.910382	0.33721|0.33721	.|.	.|.	ENSG00000122136|ENSG00000122136	ENST00000342114;ENST00000371776;ENST00000539850|ENST00000340780	T;T;T|T	0.11712|0.29655	2.75;2.75;2.75|1.56	2.49|2.49	1.23|1.23	0.21249|0.21249	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);|.	.|.	.|.	.|.	.|.	T|T	0.22898|0.22898	0.0553|0.0553	L|L	0.48642|0.48642	1.525|1.525	0.09310|0.09310	N|N	0.999996|0.999996	B;D|B	0.62365|0.28552	0.007;0.991|0.215	B;P|B	0.58013|0.29440	0.014;0.831|0.102	T|T	0.26326|0.26326	-1.0106|-1.0106	9|9	0.46703|0.20046	T|T	0.11|0.44	-0.6432|-0.6432	5.9034|5.9034	0.18980|0.18980	0.6261:0.3739:0.0:0.0|0.6261:0.3739:0.0:0.0	.|.	119;142|164	Q5T8A4;Q9NY56|Q5T8A5	.;OBP2A_HUMAN|.	A|H	119;142;142|164	ENSP00000340950:E119A;ENSP00000360841:E142A;ENSP00000441028:E142A|ENSP00000342097:N164H	ENSP00000340950:E119A|ENSP00000342097:N164H	E|N	+|+	2|1	0|0	OBP2A|OBP2A	137580411|137580411	0.007000|0.007000	0.16637|0.16637	0.225000|0.225000	0.23894|0.23894	0.026000|0.026000	0.11368|0.11368	-0.191000|-0.191000	0.09601|0.09601	0.305000|0.305000	0.22832|0.22832	0.393000|0.393000	0.25936|0.25936	GAA|AAT		0.597	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397904.1	NM_014582		34	66	0	0	0	1	0	34	66					C	138440590	A	C	138440590	3	2	48	1	0	0	0	0	1	0	0	0	10819	246	9	4	443	4	OBP2A	9	138440590	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1933104	138440590	2772841	2378	6846										
LCN9	392399	broad.mit.edu	37	chr9	138556129	138556129	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagaacggcagcctaatatTtgatttcgaatacatgtgcg	10	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138556129T>C	ENST00000277526.3	+	2	218	c.218T>C	c.(217-219)tTt>tCt	p.F73S	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	73						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AGCCTAATATTTGATTTCGAA	0.488																																						ENST00000277526.3																			0				kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6						c.(217-219)tTt>tCt		lipocalin 9							97	103	101					9																	138556129		2061	4206	6267	SO:0001583	missense	392399					extracellular region	pheromone binding|transporter activity	g.chr9:138556129T>C	AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"Lipocalins"	17442	protein-coding gene	gene with protein product	"MUP-like lipocalin", "epididymal-specific lipocalin-9"	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.218T>C	9.37:g.138556129T>C	ENSP00000277526:p.Phe73Ser		Somatic				LCN9_ENST00000430290.2_3'UTR	p.F73S	NM_001001676.1	NP_001001676.1	WXS	Illumina GAIIx	Phase_I	Q8WX39	LCN9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)	2	218	+		Myeloproliferative disorder(178;0.0821)	73					C9J5F0|Q6JVE7	Missense_Mutation	SNP	ENST00000277526.3	37	c.218T>C	CCDS56593.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057869	0.36277	.	.	ENSG00000148386	ENST00000277526	T	0.07567	3.18	3.08	1.89	0.25635	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.38778	N	0.001561	T	0.25494	0.0620	M	0.85945	2.785	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.03268	-1.1054	10	0.72032	D	0.01	-18.2115	5.4092	0.16339	0.2508:0.0:0.0:0.7492	.	73	Q8WX39	LCN9_HUMAN	S	73	ENSP00000277526:F73S	ENSP00000277526:F73S	F	+	2	0	LCN9	137695950	0.005000	0.15991	0.001000	0.08648	0.004000	0.04260	1.172000	0.31908	0.556000	0.29098	0.379000	0.24179	TTT		0.488	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	NM_001001676		44	60	0	0	0	1	0	44	60					C	138556129	T	C	138556129	3	2	48	1	0	0	0	0	1	0	0	0	8696	1841	64	4	224	4	LCN9	9	138556129	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	115539	138556129	2657302	2379	6847										
KCNT1	57582	broad.mit.edu	37	chr9	138656879	138656879	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgtttctcacctgcagttCgaggagctcgtctacctctg	9	14	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138656879C>T	ENST00000263604.3	+	12	981	c.981C>T	c.(979-981)ttC>ttT	p.F327F	KCNT1_ENST00000491806.2_Silent_p.F313F|KCNT1_ENST00000371757.2_Silent_p.F346F|KCNT1_ENST00000488444.2_Silent_p.F327F|KCNT1_ENST00000298480.5_Silent_p.F346F|KCNT1_ENST00000487664.1_Silent_p.F301F|KCNT1_ENST00000486577.2_Silent_p.F307F|KCNT1_ENST00000490355.2_Silent_p.F327F			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	327					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)		ACCTGCAGTTCGAGGAGCTCG	0.632																																						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.(1036-1038)ttC>ttT		potassium channel, subfamily T, member 1							73	67	69					9																	138656879		2200	4300	6500	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138656879C>T	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.981C>T	9.37:g.138656879C>T			Somatic				KCNT1_ENST00000490355.2_Silent_p.F327F|KCNT1_ENST00000487664.1_Silent_p.F301F|KCNT1_ENST00000263604.3_Silent_p.F327F|KCNT1_ENST00000486577.2_Silent_p.F307F|KCNT1_ENST00000488444.2_Silent_p.F327F|KCNT1_ENST00000491806.2_Silent_p.F313F|KCNT1_ENST00000371757.2_Silent_p.F346F	p.F346F			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	1112	+		Myeloproliferative disorder(178;0.0821)	346					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.1038C>T																																																																																					0.632	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		10	17	0	0	0	1	0	10	17					T	138656879	C	T	138656879	2	4	48	1	0	0	0	0	0	0	0	1	8100	883	31	1		1	KCNT1	9	138656879	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	100750	138656879	2556552	2380	6848										
CAMSAP1	157922	broad.mit.edu	37	chr9	138709842	138709842	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgctgagagggtgtgccccCggaatgaacgctctcgggtt	15	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138709842C>T	ENST00000389532.4	-	14	4316	c.4252G>A	c.(4252-4254)Ggg>Agg	p.G1418R	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.G1140R|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.G1429R	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1418					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)		GGTGTGCCCCCGGAATGAACG	0.637																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(4252-4254)Ggg>Agg		calmodulin regulated spectrin-associated protein 1							41	43	43					9																	138709842		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138709842C>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.4252G>A	9.37:g.138709842C>T	ENSP00000374183:p.Gly1418Arg		Somatic				CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.G1429R|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.G1140R	p.G1418R	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)	14	4316	-			1418					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.4252G>A	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589504	0.66105	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.16073	2.38;2.37;2.38	5.29	5.29	0.74685	.	0.049522	0.85682	D	0.000000	T	0.37156	0.0993	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	T	0.09530	-1.0670	10	0.87932	D	0	-2.8997	18.9257	0.92544	0.0:1.0:0.0:0.0	.	1418;1429	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	R	1418;1140;1429	ENSP00000374183:G1418R;ENSP00000312463:G1140R;ENSP00000386420:G1429R	ENSP00000312463:G1140R	G	-	1	0	CAMSAP1	137849663	1.000000	0.71417	0.448000	0.26945	0.006000	0.05464	4.595000	0.61048	2.489000	0.83994	0.462000	0.41574	GGG		0.637	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		14	20	0	0	0	1	0	14	20					T	138709842	C	T	138709842	3	4	48	1	0	0	0	0	1	0	0	0	2613	652	23	1	572	1	CAMSAP1	9	138709842	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	52963	138709842	2503589	2381	6849										
CAMSAP1	157922	broad.mit.edu	37	chr9	138742171	138742171	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaataattcgttattaccttCaacactaatggcgcatacag	5	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138742171C>A	ENST00000389532.4	-	6	1009	c.945G>T	c.(943-945)ttG>ttT	p.L315F	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.L37F|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.L326F	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	315	CH.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TTATTACCTTCAACACTAATG	0.323																																						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.(943-945)ttG>ttT		calmodulin regulated spectrin-associated protein 1							73	78	76					9																	138742171		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138742171C>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.945G>T	9.37:g.138742171C>A	ENSP00000374183:p.Leu315Phe		Somatic				CAMSAP1_ENST00000409386.3_Missense_Mutation_p.L326F|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.L37F	p.L315F	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)	6	1009	-			315			CH.		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.945G>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	19.25	3.792121	0.70452	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	D;D;T	0.95377	-3.69;-3.69;1.61	5.57	-0.318	0.12728	Calponin homology domain (2);	0.066509	0.64402	D	0.000018	D	0.96500	0.8858	M	0.78456	2.415	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94423	0.7642	10	0.87932	D	0	-4.0506	7.1014	0.25340	0.0:0.193:0.5855:0.2215	.	315;326	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	F	315;37;326	ENSP00000374183:L315F;ENSP00000312463:L37F;ENSP00000386420:L326F	ENSP00000312463:L37F	L	-	3	2	CAMSAP1	137881992	1.000000	0.71417	0.996000	0.52242	0.874000	0.50279	0.339000	0.19875	0.083000	0.17047	0.655000	0.94253	TTG		0.323	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		34	51	1	0	2.42023e-17	1	3.24332e-17	34	51					A	138742171	C	A	138742171	3	1	48	1	0	0	0	0	1	0	0	0	2613	825	29	2	3911	2	CAMSAP1	9	138742171	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	32329	138742171	2471260	2382	6850										
ANAPC2	29882	broad.mit.edu	37	chr9	140082342	140082342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggccaaaagcgtcaaggaGtagcaaaaggcactggggct	14	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140082342G>A	ENST00000323927.2	-	2	335	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	111					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)		GCGTCAAGGAGTAGCAAAAGG	0.587																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(331-333)Ctc>Ttc		anaphase promoting complex subunit 2							91	96	94					9																	140082342		2203	4300	6503	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140082342G>A	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.331C>T	9.37:g.140082342G>A	ENSP00000314004:p.Leu111Phe		Somatic					p.L111F	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)	2	335	-	all_cancers(76;0.0926)		111					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.331C>T	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377813	0.42105	.	.	ENSG00000176248	ENST00000323927	T	0.70986	-0.53	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.62490	0.2432	L	0.59436	1.845	0.80722	D	1	B	0.21753	0.06	B	0.20767	0.031	T	0.56571	-0.7957	10	0.17369	T	0.5	-26.2622	9.3517	0.38142	0.0985:0.0:0.9015:0.0	.	111	Q9UJX6	ANC2_HUMAN	F	111	ENSP00000314004:L111F	ENSP00000314004:L111F	L	-	1	0	ANAPC2	139202163	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.211000	0.65219	2.295000	0.77249	0.462000	0.41574	CTC		0.587	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		33	80	0	0	0	1	0	33	80					A	140082342	G	A	140082342	3	1	48	1	0	0	0	0	1	0	0	0	603	1029	36	3	2185	3	ANAPC2	9	140082342	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1340171	140082342	1131089	2383	6851										
TPRN	286262	broad.mit.edu	37	chr9	140093883	140093883	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagcaggctcagcttcttcCgaagcagccggcaggaaggg	14	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140093883C>T	ENST00000409012.4	-	1	1367	c.1281G>A	c.(1279-1281)tcG>tcA	p.S427S	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Silent_p.S366S	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	427					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CAGCTTCTTCCGAAGCAGCCG	0.657																																						ENST00000409012.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						c.(1279-1281)tcG>tcA		taperin							13	15	15					9																	140093883		2190	4290	6480	SO:0001819	synonymous_variant	286262				sensory perception of sound	stereocilium		g.chr9:140093883C>T	AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"chromosome 9 open reading frame 75", "deafness, autosomal recessive 79"	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1281G>A	9.37:g.140093883C>T			Somatic				TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Silent_p.S366S	p.S427S	NM_001128228.2	NP_001121700.2	WXS	Illumina GAIIx	Phase_I	Q4KMQ1	TPRN_HUMAN			1	1367	-			427					B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Silent	SNP	ENST00000409012.4	37	c.1281G>A	CCDS56594.1																																																																																				0.657	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055323.3	NM_173691		8	22	0	0	0	1	0	8	22					T	140093883	C	T	140093883	2	4	48	1	0	0	0	0	0	0	0	1	16436	639	23	1		1	TPRN	9	140093883	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	11541	140093883	1119548	2384	6852										
PNPLA7	375775	broad.mit.edu	37	chr9	140354851	140354851	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttagcagaggcctctacccGtcctggtcagaggagccctc	11	14	2	2	rs376048567		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140354851G>A	ENST00000277531.4	-	34	4134	c.3948C>T	c.(3946-3948)gaC>gaT	p.D1316D	NSMF_ENST00000265663.7_5'Flank|NSMF_ENST00000392812.4_5'Flank|PNPLA7_ENST00000406427.1_Silent_p.D1341D|NSMF_ENST00000371473.3_5'Flank|PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000339554.3_5'Flank|PNPLA7_ENST00000371457.1_Silent_p.D922D|NSMF_ENST00000371474.3_5'Flank|NSMF_ENST00000371472.2_5'Flank|NSMF_ENST00000371475.3_5'Flank|NSMF_ENST00000437259.1_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1316					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)		GCCTCTACCCGTCCTGGTCAG	0.617																																						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.(4021-4023)gaC>gaT		patatin-like phospholipase domain containing 7							39	36	37					9																	140354851		2200	4299	6499	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140354851G>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.3948C>T	9.37:g.140354851G>A			Somatic				PNPLA7_ENST00000371457.1_Silent_p.D922D|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Silent_p.D1316D	p.D1341D	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)	35	4359	-	all_cancers(76;0.126)		1316					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.4023C>T	CCDS7045.1																																																																																				0.617	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		8	32	0	0	0	1	0	8	32					A	140354851	G	A	140354851	2	1	48	1	0	0	0	0	0	0	0	1	12179	1136	40	1		1	PNPLA7	9	140354851	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	260968	140354851	858580	2385	6853										
PNPLA7	375775	broad.mit.edu	37	chr9	140400121	140400121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagctctgaagatggcatccGacttcctgctggccagggtc	12	13	1	2	rs369466522		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140400121G>A	ENST00000277531.4	-	13	1529	c.1343C>T	c.(1342-1344)tCg>tTg	p.S448L	PNPLA7_ENST00000406427.1_Missense_Mutation_p.S473L|PNPLA7_ENST00000371457.1_Missense_Mutation_p.S54L	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	448				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509). {ECO:0000305}.	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)		GATGGCATCCGACTTCCTGCT	0.612																																						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.(1417-1419)tCg>tTg		patatin-like phospholipase domain containing 7		G	LEU/SER,LEU/SER	0,4406		0,0,2203	148	131	137		1418,1343	1.3	0.1	9		137	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PNPLA7	NM_001098537.1,NM_152286.3	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	473/1343,448/1318	140400121	1,13005	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.chr9:140400121G>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.1343C>T	9.37:g.140400121G>A	ENSP00000277531:p.Ser448Leu		Somatic				PNPLA7_ENST00000371457.1_Missense_Mutation_p.S54L|PNPLA7_ENST00000277531.4_Missense_Mutation_p.S448L	p.S473L	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)	14	1754	-	all_cancers(76;0.126)		448	FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).				B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.1418C>T	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.455407	0.01071	0.0	1.16E-4	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T	0.70869	-0.52;0.26;0.26;0.27	4.26	1.32	0.21799	.	0.658997	0.15951	N	0.236740	T	0.50069	0.1594	N	0.19112	0.55	0.09310	N	1	B;B	0.14012	0.009;0.003	B;B	0.06405	0.002;0.002	T	0.33214	-0.9877	10	0.30078	T	0.28	-0.5507	7.5668	0.27883	0.3634:0.0:0.6366:0.0	.	473;448	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	L	54;448;473;448;439	ENSP00000360512:S54L;ENSP00000277531:S448L;ENSP00000384610:S473L;ENSP00000400582:S439L	ENSP00000277531:S448L	S	-	2	0	PNPLA7	139519942	0.000000	0.05858	0.066000	0.19879	0.015000	0.08874	-0.171000	0.09883	0.781000	0.33589	-0.225000	0.12378	TCG		0.612	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		48	85	0	0	0	1	0	48	85					A	140400121	G	A	140400121	3	1	48	1	0	0	0	0	1	0	0	0	12179	1059	37	1	2698	1	PNPLA7	9	140400121	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	45270	140400121	813310	2386	6854										
EHMT1	79813	broad.mit.edu	37	chr9	140646849	140646849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggaggaggaaggcggtgacGagtctgacctggtaatgccc	17	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140646849G>A	ENST00000460843.1	+	7	1264	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.E413K|EHMT1_ENST00000334856.6_Missense_Mutation_p.E382K	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	413					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGGCGGTGACGAGTCTGACCT	0.592																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1237-1239)Gag>Aag		euchromatic histone-lysine N-methyltransferase 1							130	94	106					9																	140646849		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140646849G>A	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1237G>A	9.37:g.140646849G>A	ENSP00000417980:p.Glu413Lys		Somatic				EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.E413K|EHMT1_ENST00000334856.6_Missense_Mutation_p.E382K	p.E413K	NM_024757.4	NP_079033.4	WXS	Illumina GAIIx	Phase_I	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	7	1264	+	all_cancers(76;0.164)		413					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.1237G>A	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966772	0.74131	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.51817	0.69;0.69;0.69	4.83	4.83	0.62350	.	0.284226	0.38959	N	0.001504	T	0.64962	0.2646	M	0.67953	2.075	0.51767	D	0.999938	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.981;0.994;0.994	T	0.61691	-0.7011	10	0.24483	T	0.36	.	15.7025	0.77552	0.0:0.0:1.0:0.0	.	413;382;413	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	K	382;382;413;413	ENSP00000334476:E382K;ENSP00000417328:E413K;ENSP00000417980:E413K	ENSP00000334476:E382K	E	+	1	0	EHMT1	139766670	1.000000	0.71417	0.998000	0.56505	0.413000	0.31143	6.552000	0.73914	2.233000	0.73108	0.561000	0.74099	GAG		0.592	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		11	20	0	0	0	1	0	11	20					A	140646849	G	A	140646849	3	1	48	1	0	0	0	0	1	0	0	0	4985	1059	37	1	1263	1	EHMT1	9	140646849	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	246728	140646849	566582	2387	6855										
CACNA1B	774	broad.mit.edu	37	chr9	140851266	140851266	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacaggaatgcagaggagaaGtcccctttggacggtaggtg	16	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140851266G>A	ENST00000371372.1	+	9	1375	c.1230G>A	c.(1228-1230)aaG>aaA	p.K410K	CACNA1B_ENST00000371355.4_Silent_p.K410K|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Silent_p.K410K|CACNA1B_ENST00000371363.1_Silent_p.K410K|CACNA1B_ENST00000277551.2_Silent_p.K410K	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	410					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)	CAGAGGAGAAGTCCCCTTTGG	0.612																																						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.(1228-1230)aaG>aaA		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						247	281	270					9																	140851266		2195	4275	6470	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140851266G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1230G>A	9.37:g.140851266G>A			Somatic				CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.K410K|CACNA1B_ENST00000277551.2_Silent_p.K410K|CACNA1B_ENST00000371355.4_Silent_p.K410K|CACNA1B_ENST00000371357.1_Silent_p.K410K	p.K410K	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)	9	1375	+	all_cancers(76;0.166)		410					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.1230G>A	CCDS59522.1																																																																																				0.612	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		26	47	0	0	0	1	0	26	47					A	140851266	G	A	140851266	2	1	48	1	0	0	0	0	0	0	0	1	2541	1020	36	3		3	CACNA1B	9	140851266	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	204417	140851266	362165	2388	6856										
CACNA1B	774	broad.mit.edu	37	chr9	141008837	141008837	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttcttttccagctgatgaGatgacagtggggaaggttta	13	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:141008837G>T	ENST00000371372.1	+	41	5689	c.5544G>T	c.(5542-5544)gaG>gaT	p.E1848D	CACNA1B_ENST00000371355.4_Missense_Mutation_p.E1849D|CACNA1B_ENST00000277549.5_Missense_Mutation_p.E1042D|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E1847D|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E1846D|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E1848D	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1848					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)	CAGCTGATGAGATGACAGTGG	0.512																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(3124-3126)gaG>gaT		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						51	47	48					9																	141008837		1970	4158	6128	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.chr9:141008837G>T	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.5544G>T	9.37:g.141008837G>T	ENSP00000360423:p.Glu1848Asp		Somatic				CACNA1B_ENST00000371372.1_Missense_Mutation_p.E1848D|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E1846D|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E1848D|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E1849D|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E1847D	p.E1042D			WXS	Illumina GAIIx	Phase_I	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	41	5695	+	all_cancers(76;0.166)		1848					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.3126G>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	2.666	-0.278564	0.05679	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	L	0.41961	1.31	0.80722	D	1	B;B	0.27013	0.166;0.166	B;B	0.37144	0.242;0.174	T	0.50083	-0.8869	10	0.08381	T	0.77	.	9.649	0.39886	0.1921:0.0:0.8079:0.0	.	1847;1846	B1AQK7;B1AQK6	.;.	D	1848;1848;1042;1846;1847;1849	ENSP00000360423:E1848D;ENSP00000277551:E1848D;ENSP00000277549:E1042D;ENSP00000360414:E1846D;ENSP00000360408:E1847D;ENSP00000360406:E1849D	ENSP00000277549:E1042D	E	+	3	2	CACNA1B	140128658	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	1.025000	0.30090	2.687000	0.91594	0.655000	0.94253	GAG		0.512	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		5	5	1	0	4.096e-09	1	4.90247e-09	5	5					T	141008837	G	T	141008837	3	4	48	1	0	0	0	0	1	0	0	0	2541	933	33	2	5702	2	CACNA1B	9	141008837	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	157571	141008837	204594	2389	6857										
ZMYND11	10771	broad.mit.edu	37	chr10	288047	288047	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagaaagaagacaatcaagtCgacgttcgcttctttggcca	9	10	2	3	rs528355836		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:288047C>T	ENST00000397962.3	+	10	1346	c.918C>T	c.(916-918)gtC>gtT	p.V306V	ZMYND11_ENST00000381602.4_Silent_p.V266V|ZMYND11_ENST00000602682.1_Silent_p.V221V|ZMYND11_ENST00000403354.1_Silent_p.V226V|ZMYND11_ENST00000381607.4_Silent_p.V212V|ZMYND11_ENST00000381604.4_Silent_p.V266V|ZMYND11_ENST00000309776.4_Silent_p.V266V|ZMYND11_ENST00000402736.1_Silent_p.V275V|ZMYND11_ENST00000509513.2_Silent_p.V305V|ZMYND11_ENST00000381591.1_Silent_p.V306V|ZMYND11_ENST00000381584.1_Silent_p.V289V|ZMYND11_ENST00000397959.3_Silent_p.V221V|ZMYND11_ENST00000558098.2_Silent_p.V306V|ZMYND11_ENST00000535374.1_Silent_p.V101V|ZMYND11_ENST00000545619.1_Silent_p.V186V			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	306	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)		ACAATCAAGTCGACGTTCGCT	0.428													C|||	1	0.000199681	0	0	5008	,	,		16158	0		0	False		,,,				2504	0.001					ENST00000397962.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24						c.(916-918)gtC>gtT		zinc finger, MYND-type containing 11							164	154	157					10																	288047		2203	4300	6503	SO:0001819	synonymous_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.chr10:288047C>T	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.918C>T	10.37:g.288047C>T			Somatic				ZMYND11_ENST00000558098.2_Silent_p.V306V|ZMYND11_ENST00000397959.3_Silent_p.V221V|ZMYND11_ENST00000381584.1_Silent_p.V289V|ZMYND11_ENST00000545619.1_Silent_p.V186V|ZMYND11_ENST00000381602.4_Silent_p.V266V|ZMYND11_ENST00000602682.1_Silent_p.V221V|ZMYND11_ENST00000381604.4_Silent_p.V266V|ZMYND11_ENST00000403354.1_Silent_p.V226V|ZMYND11_ENST00000309776.4_Silent_p.V266V|ZMYND11_ENST00000535374.1_Silent_p.V101V|ZMYND11_ENST00000509513.2_Silent_p.V305V|ZMYND11_ENST00000402736.1_Silent_p.V275V|ZMYND11_ENST00000381607.4_Silent_p.V212V|ZMYND11_ENST00000381591.1_Silent_p.V306V	p.V306V			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	1346	+		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)	266					B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Silent	SNP	ENST00000397962.3	37	c.918C>T	CCDS7052.2																																																																																				0.428	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		5	70	0	0	0	1	0	5	70					T	288047	C	T	288047	2	4	48	1	0	0	0	0	0	0	0	1	17721	871	31	1		1	ZMYND11	10	288047	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08		288047	135246700	2390	6858										
LARP4B	23185	broad.mit.edu	37	chr10	876893	876893	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tataaattttggtaaattatCtcctttaaatagtgcttcta	4	5	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:876893C>A	ENST00000316157.3	-	8	815	c.775G>T	c.(775-777)Gat>Tat	p.D259Y		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	259	RRM.				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						GGTAAATTATCTCCTTTAAAT	0.284																																						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.(775-777)Gat>Tat		La ribonucleoprotein domain family, member 4B							85	94	91					10																	876893		2201	4298	6499	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:876893C>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.775G>T	10.37:g.876893C>A	ENSP00000326128:p.Asp259Tyr		Somatic					p.D259Y	NM_015155.1	NP_055970.1	WXS	Illumina GAIIx	Phase_I	Q92615	LAR4B_HUMAN			8	815	-			259			RRM.		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.775G>T	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680081	0.68042	.	.	ENSG00000107929	ENST00000316157	T	0.33865	1.39	5.08	4.14	0.48551	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.192895	0.53938	D	0.000056	T	0.44456	0.1294	L	0.56769	1.78	0.58432	D	0.999997	P	0.46656	0.882	P	0.50049	0.629	T	0.39860	-0.9593	10	0.51188	T	0.08	-9.9723	12.4001	0.55407	0.0:0.9135:0.0:0.0865	.	259	Q92615	LAR4B_HUMAN	Y	259	ENSP00000326128:D259Y	ENSP00000326128:D259Y	D	-	1	0	LARP4B	866893	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.887000	0.56197	1.196000	0.43129	0.563000	0.77884	GAT		0.284	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		18	33	1	0	2.35188e-11	1	2.92451e-11	18	33					A	876893	C	A	876893	3	1	48	1	0	0	0	0	1	0	0	0	8640	913	32	2	1481	2	LARP4B	10	876893	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	588846	876893	134657854	2391	6859										
ADARB2	105	broad.mit.edu	37	chr10	1405395	1405395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccatcacgaagctccgcgcgCgccgctcggccggttctgcc	12	19	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:1405395C>T	ENST00000381312.1	-	3	1230	c.905G>A	c.(904-906)cGc>cAc	p.R302H	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	302	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCTCCGCGCGCGCCGCTCGGC	0.761																																						ENST00000381312.1																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(904-906)cGc>cAc		adenosine deaminase, RNA-specific, B2 (non-functional)							4	5	5					10																	1405395		1954	3913	5867	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405395C>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.905G>A	10.37:g.1405395C>T	ENSP00000370713:p.Arg302His		Somatic					p.R302H	NM_018702.3	NP_061172.1	WXS	Illumina GAIIx	Phase_I	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	1230	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	302			DRBM 2.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.905G>A	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.387149	0.01194	.	.	ENSG00000185736	ENST00000381312	T	0.72505	-0.66	5.24	1.97	0.26223	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.385778	0.29995	N	0.010667	T	0.22589	0.0545	N	0.00113	-2.09	0.48087	D	0.999586	B	0.10296	0.003	B	0.15484	0.013	T	0.39901	-0.9591	10	0.02654	T	1	-16.5915	5.7148	0.17954	0.0:0.4297:0.0:0.5703	.	302	Q9NS39	RED2_HUMAN	H	302	ENSP00000370713:R302H	ENSP00000370713:R302H	R	-	2	0	ADARB2	1395395	0.848000	0.29623	0.002000	0.10522	0.171000	0.22731	1.888000	0.39708	0.529000	0.28599	0.561000	0.74099	CGC		0.761	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		3	10	0	0	0	1	0	3	10					T	1405395	C	T	1405395	3	4	48	1	0	0	0	0	1	0	0	0	283	768	27	1	1346	1	ADARB2	10	1405395	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	528502	1405395	134129352	2392	6860										
UCN3	114131	broad.mit.edu	37	chr10	5416147	5416147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgccaatgcccacctgatggCgcaaattgggaggaagaagt	13	10	0	2	rs377737986	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:5416147C>T	ENST00000380433.3	+	2	692	c.464C>T	c.(463-465)gCg>gTg	p.A155V		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	155					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|digestion (GO:0007586)|positive regulation of insulin secretion (GO:0032024)|positive regulation of membrane potential (GO:0045838)|response to corticosterone (GO:0051412)|response to glucose (GO:0009749)|response to immobilization stress (GO:0035902)|response to starvation (GO:0042594)	axon terminus (GO:0043679)|extracellular space (GO:0005615)|varicosity (GO:0043196)				endometrium(1)|large_intestine(1)	2						CACCTGATGGCGCAAATTGGG	0.677																																						ENST00000380433.3																			0				endometrium(1)|large_intestine(1)	2						c.(463-465)gCg>gTg		urocortin 3		C	VAL/ALA	1,4405		0,1,2202	24	27	26		464	5.6	1	10		26	1,8593		0,1,4296	no	missense	UCN3	NM_053049.2	64	0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	155/162	5416147	2,12998	2203	4297	6500	SO:0001583	missense	114131					extracellular region	hormone activity	g.chr10:5416147C>T	AF361943	CCDS7065.1	10p15.1	2013-02-28	2012-10-17		ENSG00000178473	ENSG00000178473		"Endogenous ligands"	17781	protein-coding gene	gene with protein product	"stresscopin", "prepro-urocortin 3"	605901				11416224	Standard	NM_053049		Approved	UCNIII, SPC	uc001ihx.1	Q969E3	OTTHUMG00000017594	ENST00000380433.3:c.464C>T	10.37:g.5416147C>T	ENSP00000369798:p.Ala155Val		Somatic					p.A155V	NM_053049.2	NP_444277.2	WXS	Illumina GAIIx	Phase_I	Q969E3	UCN3_HUMAN			2	692	+			155					Q496H2|Q5SR91	Missense_Mutation	SNP	ENST00000380433.3	37	c.464C>T	CCDS7065.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236755	0.79800	2.27E-4	1.16E-4	ENSG00000178473	ENST00000380433	T	0.58797	0.31	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.76343	0.3974	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78229	-0.2285	10	0.87932	D	0	-11.0888	18.1747	0.89758	0.0:1.0:0.0:0.0	.	155	Q969E3	UCN3_HUMAN	V	155	ENSP00000369798:A155V	ENSP00000369798:A155V	A	+	2	0	UCN3	5406147	1.000000	0.71417	0.977000	0.42913	0.096000	0.18686	7.231000	0.78106	2.653000	0.90120	0.491000	0.48974	GCG		0.677	UCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046547.1	NM_053049		7	24	0	0	0	1	0	7	24					T	5416147	C	T	5416147	3	4	48	1	0	0	0	0	1	0	0	0	16944	768	27	1	466	1	UCN3	10	5416147	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4010752	5416147	130118600	2393	6861										
TUBAL3	79861	broad.mit.edu	37	chr10	5435795	5435795	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaacagagtgcctcgacttCgtggctgcgattgctgcatt	12	10	0	2	rs200952820		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:5435795C>T	ENST00000380419.3	-	4	1063	c.1026G>A	c.(1024-1026)acG>acA	p.T342T	TUBAL3_ENST00000479328.1_Silent_p.T302T	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	342					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GCCTCGACTTCGTGGCTGCGA	0.562																																						ENST00000380419.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						c.(1024-1026)acG>acA		tubulin, alpha-like 3							95	85	88					10																	5435795		2203	4300	6503	SO:0001819	synonymous_variant	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5435795C>T	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"Tubulins"	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.1026G>A	10.37:g.5435795C>T			Somatic				TUBAL3_ENST00000479328.1_Silent_p.T302T	p.T342T	NM_024803.2	NP_079079.1	WXS	Illumina GAIIx	Phase_I	A6NHL2	TBAL3_HUMAN			4	1063	-			342					B4DKL2|Q4QQJ5|Q9H6Z0	Silent	SNP	ENST00000380419.3	37	c.1026G>A	CCDS7066.2																																																																																				0.562	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		24	45	0	0	0	1	0	24	45					T	5435795	C	T	5435795	2	4	48	1	0	0	0	0	0	0	0	1	16766	871	31	1		1	TUBAL3	10	5435795	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	19648	5435795	130098952	2394	6862										
FBXO18	84893	broad.mit.edu	37	chr10	5944989	5944989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggtatgaaacagtgagacGgtttaagcggaagcatctta	12	6	1	2	rs184687585	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:5944989G>A	ENST00000362091.4	+	2	123	c.8G>A	c.(7-9)cGg>cAg	p.R3Q	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_Intron|FBXO18_ENST00000379999.5_Missense_Mutation_p.R54Q	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	3					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						ACAGTGAGACGGTTTAAGCGG	0.458													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		16433	0		0	False		,,,				2504	0					ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(160-162)cGg>cAg		F-box protein, helicase, 18							103	88	93					10																	5944989		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5944989G>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.8G>A	10.37:g.5944989G>A	ENSP00000355415:p.Arg3Gln		Somatic				FBXO18_ENST00000362091.4_Missense_Mutation_p.R3Q|FBXO18_ENST00000470089.1_Intron|FBXO18_ENST00000397269.3_5'UTR	p.R54Q	NM_032807.4	NP_116196.3	WXS	Illumina GAIIx	Phase_I	Q8NFZ0	FBX18_HUMAN			3	265	+			3					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.161G>A	CCDS7072.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	16.15	3.042626	0.55003	.	.	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.21	-2.02	0.07388	.	0.850130	0.10445	N	0.673831	T	0.60025	0.2237	L	0.53249	1.67	0.80722	D	1	D;P	0.63880	0.993;0.715	P;B	0.51193	0.662;0.092	T	0.66685	-0.5861	9	0.44086	T	0.13	-2.0702	14.2895	0.66268	0.0:0.5429:0.3453:0.1118	.	54;3	Q8NFZ0-2;Q8NFZ0	.;FBX18_HUMAN	Q	3;54	.	ENSP00000355415:R3Q	R	+	2	0	FBXO18	5984995	1.000000	0.71417	0.997000	0.53966	0.338000	0.28826	1.390000	0.34464	-0.030000	0.13804	-0.868000	0.02995	CGG		0.458	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		16	47	0	0	0	1	0	16	47					A	5944989	G	A	5944989	3	1	48	1	0	0	0	0	1	0	0	0	5739	1116	39	1	176	1	FBXO18	10	5944989	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	509194	5944989	129589758	2395	6863										
IL2RA	3559	broad.mit.edu	37	chr10	6063552	6063552	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcaggacctctgtgtagagCcctgtatccctggacgcact	11	13	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:6063552C>T	ENST00000379959.3	-	4	645	c.472G>A	c.(472-474)Gct>Act	p.A158T	IL2RA_ENST00000256876.6_Missense_Mutation_p.A158T|IL2RA_ENST00000379954.1_Intron	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	158	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTGTGTAGAGCCCTGTATCCC	0.527																																						ENST00000379959.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(472-474)Gct>Act		interleukin 2 receptor, alpha	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						187	166	173					10																	6063552		2203	4300	6503	SO:0001583	missense	3559				cell proliferation	integral to membrane	interleukin-2 receptor activity	g.chr10:6063552C>T	X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"Interleukins and interleukin receptors", "CD molecules"	6008	protein-coding gene	gene with protein product		147730	"insulin-dependent diabetes mellitus 10"	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.472G>A	10.37:g.6063552C>T	ENSP00000369293:p.Ala158Thr		Somatic				IL2RA_ENST00000256876.6_Missense_Mutation_p.A158T|IL2RA_ENST00000379954.1_Intron	p.A158T	NM_000417.2	NP_000408.1	WXS	Illumina GAIIx	Phase_I	P01589	IL2RA_HUMAN			4	645	-			158			Sushi 2.		Q5W007	Missense_Mutation	SNP	ENST00000379959.3	37	c.472G>A	CCDS7076.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010068	0.35415	.	.	ENSG00000134460	ENST00000379959;ENST00000256876	T;T	0.63580	-0.05;-0.05	4.32	1.26	0.21427	Complement control module (2);Sushi/SCR/CCP (3);	1.008340	0.07968	N	0.983556	T	0.74997	0.3790	M	0.66939	2.045	0.09310	N	1	D	0.63046	0.992	D	0.63283	0.913	T	0.62718	-0.6795	10	0.54805	T	0.06	-37.704	12.0944	0.53747	0.0:0.4814:0.5186:0.0	.	158	P01589	IL2RA_HUMAN	T	158	ENSP00000369293:A158T;ENSP00000256876:A158T	ENSP00000256876:A158T	A	-	1	0	IL2RA	6103558	0.019000	0.18553	0.386000	0.26170	0.034000	0.12701	0.221000	0.17680	0.156000	0.19299	0.650000	0.86243	GCT		0.527	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417		56	88	0	0	0	1	0	56	88					T	6063552	C	T	6063552	3	4	48	1	0	0	0	0	1	0	0	0	7695	739	26	3	366	3	IL2RA	10	6063552	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	118563	6063552	129471195	2396	6864										
SFMBT2	57713	broad.mit.edu	37	chr10	7242375	7242375	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccctaaatgggactgattaCctgtggtgtccaggtgaggg	14	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:7242375C>T	ENST00000361972.4	-	14	1649		c.e14+1		SFMBT2_ENST00000397167.1_Splice_Site	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2						negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.?(1)		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						GGACTGATTACCTGTGGTGTC	0.468																																						ENST00000361972.4																			1	Unknown(1)	p.?(1)	large_intestine(1)	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.e14+1		Scm-like with four mbt domains 2							109	109	109					10																	7242375		2203	4300	6503	SO:0001630	splice_region_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7242375C>T	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.1558+1G>A	10.37:g.7242375C>T			Somatic				SFMBT2_ENST00000397167.1_Splice_Site		NM_001018039.1	NP_001018049.1	WXS	Illumina GAIIx	Phase_I	Q5VUG0	SMBT2_HUMAN			14	1649	-								A7MD09|Q9HCF5	Splice_Site	SNP	ENST00000361972.4	37		CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088673	0.76756	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.259	0.90028	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SFMBT2	7282381	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	4.554000	0.60760	2.736000	0.93811	0.655000	0.94253	.		0.468	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	Intron	24	47	0	0	0	1	0	24	47					T	7242375	C	T	7242375	5	4	48	1	0	0	0	0	0	0	1	0	14173	521	18	3	1157	3	SFMBT2	10	7242375	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1178823	7242375	128292372	2397	6865										
SFMBT2	57713	broad.mit.edu	37	chr10	7285548	7285548	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagtgaggctgactccattTttaaggcaccactgtactgg	12	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:7285548T>G	ENST00000361972.4	-	9	1182	c.1092A>C	c.(1090-1092)aaA>aaC	p.K364N	SFMBT2_ENST00000397167.1_Missense_Mutation_p.K364N	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	364					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.K364N(1)		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						TGACTCCATTTTTAAGGCACC	0.448																																						ENST00000361972.4																			1	Substitution - Missense(1)	p.K364N(1)	large_intestine(1)	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.(1090-1092)aaA>aaC		Scm-like with four mbt domains 2							94	89	91					10																	7285548		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7285548T>G	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.1092A>C	10.37:g.7285548T>G	ENSP00000355109:p.Lys364Asn		Somatic				SFMBT2_ENST00000397167.1_Missense_Mutation_p.K364N	p.K364N	NM_001018039.1	NP_001018049.1	WXS	Illumina GAIIx	Phase_I	Q5VUG0	SMBT2_HUMAN			9	1182	-			364					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.1092A>C	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140990	0.77775	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.32988	1.43;1.43	5.3	4.17	0.49024	.	0.043715	0.85682	D	0.000000	T	0.51907	0.1702	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51505	-0.8697	10	0.52906	T	0.07	.	10.9561	0.47358	0.0:0.0731:0.0:0.9269	.	364	Q5VUG0	SMBT2_HUMAN	N	364	ENSP00000355109:K364N;ENSP00000380353:K364N	ENSP00000355109:K364N	K	-	3	2	SFMBT2	7325554	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.663000	0.46774	0.978000	0.38470	0.533000	0.62120	AAA		0.448	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		24	51	0	0	0	1	0	24	51					G	7285548	T	G	7285548	3	3	48	1	0	0	0	0	1	0	0	0	14173	1838	64	4	1644	4	SFMBT2	10	7285548	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	43173	7285548	128249199	2398	6866										
ITIH5	80760	broad.mit.edu	37	chr10	7614359	7614359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcttcccttctgaagccacGaactgaaaaaaatgaaaaca	5	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:7614359G>A	ENST00000397145.2	-	12	2140	c.2035C>T	c.(2035-2037)Cgt>Tgt	p.R679C	ITIH5_ENST00000256861.6_Intron|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Intron|ITIH5_ENST00000298441.6_Intron|ITIH5_ENST00000397146.2_Intron	NM_001001851.2	NP_001001851.1	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	679					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGAAGCCACGAACTGAAAAA	0.363																																						ENST00000397145.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(2035-2037)Cgt>Tgt		inter-alpha-trypsin inhibitor heavy chain family, member 5							46	44	45					10																	7614359		1836	4083	5919	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7614359G>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000397145.2:c.2035C>T	10.37:g.7614359G>A	ENSP00000380332:p.Arg679Cys		Somatic				ITIH5_ENST00000446830.2_Intron|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Intron|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000256861.6_Intron	p.R679C	NM_001001851.2	NP_001001851.1	WXS	Illumina GAIIx	Phase_I	Q86UX2	ITIH5_HUMAN			12	2140	-			679					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000397145.2	37	c.2035C>T		.	.	.	.	.	.	.	.	.	.	G	8.203	0.798558	0.16397	.	.	ENSG00000123243	ENST00000397145	T	0.02579	4.24	3.87	1.94	0.25998	.	.	.	.	.	T	0.04452	0.0122	M	0.83774	2.66	0.09310	N	1	P	0.34615	0.459	B	0.18871	0.023	T	0.29336	-1.0015	9	0.72032	D	0.01	.	5.9213	0.19084	0.2535:0.0:0.7465:0.0	.	679	G5E9D8	.	C	679	ENSP00000380332:R679C	ENSP00000380332:R679C	R	-	1	0	ITIH5	7654365	0.034000	0.19679	0.000000	0.03702	0.000000	0.00434	0.000000	0.12993	0.554000	0.29061	-0.137000	0.14449	CGT		0.363	ITIH5-201	KNOWN	basic	protein_coding	protein_coding		NM_030569		6	16	0	0	0	1	0	6	16					A	7614359	G	A	7614359	3	1	48	1	0	0	0	0	1	0	0	0	7916	1058	37	1	928	1	ITIH5	10	7614359	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	328811	7614359	127920388	2399	6867										
ITIH2	3698	broad.mit.edu	37	chr10	7768987	7768987	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgtgattgatttcaaccaGaacattcgaacttggagaaa	8	7	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:7768987G>T	ENST00000358415.4	+	10	1225	c.1059G>T	c.(1057-1059)caG>caT	p.Q353H	ITIH2_ENST00000379587.4_Missense_Mutation_p.Q342H	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	353	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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						ATTTCAACCAGAACATTCGAA	0.398																																						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.(1057-1059)caG>caT		inter-alpha-trypsin inhibitor heavy chain 2							111	107	109					10																	7768987		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7768987G>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1059G>T	10.37:g.7768987G>T	ENSP00000351190:p.Gln353His		Somatic				ITIH2_ENST00000379587.4_Missense_Mutation_p.Q342H	p.Q353H	NM_002216.2	NP_002207.2	WXS	Illumina GAIIx	Phase_I	P19823	ITIH2_HUMAN			10	1225	+			353			VWFA.		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.1059G>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	0.760	-0.769466	0.02974	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.77358	-1.09;-1.09	5.09	-0.144	0.13440	von Willebrand factor, type A (3);	0.045831	0.85682	N	0.000000	T	0.35828	0.0945	N	0.00268	-1.735	0.24556	N	0.993993	B	0.02656	0.0	B	0.01281	0.0	T	0.45644	-0.9247	10	0.18710	T	0.47	-18.4346	6.8297	0.23902	0.0:0.5011:0.1315:0.3674	.	353	P19823	ITIH2_HUMAN	H	353;342	ENSP00000351190:Q353H;ENSP00000368906:Q342H	ENSP00000351190:Q353H	Q	+	3	2	ITIH2	7808993	0.998000	0.40836	0.697000	0.30258	0.084000	0.17831	0.636000	0.24644	-0.368000	0.08040	-0.275000	0.10095	CAG		0.398	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		20	37	1	0	1.00905e-13	1	1.29777e-13	20	37					T	7768987	G	T	7768987	3	4	48	1	0	0	0	0	1	0	0	0	7913	933	33	2	1097	2	ITIH2	10	7768987	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	154628	7768987	127765760	2400	6868										
TAF3	83860	broad.mit.edu	37	chr10	8007253	8007253	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctacaagtttaaaatcaaaGaatttgaagatgttgatccc	6	7	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:8007253G>T	ENST00000344293.5	+	3	1986	c.1780G>T	c.(1780-1782)Gaa>Taa	p.E594*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	594	Lys-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TAAAATCAAAGAATTTGAAGA	0.373																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(1780-1782)Gaa>Taa		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							77	76	76					10																	8007253		1815	4075	5890	SO:0001587	stop_gained	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8007253G>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1780G>T	10.37:g.8007253G>T	ENSP00000340271:p.Glu594*		Somatic					p.E594*	NM_031923.3	NP_114129.1	WXS	Illumina GAIIx	Phase_I	Q5VWG9	TAF3_HUMAN			3	1986	+			594			Lys-rich.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Nonsense_Mutation	SNP	ENST00000344293.5	37	c.1780G>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	37	6.207763	0.97376	.	.	ENSG00000165632	ENST00000344293	.	.	.	5.82	5.82	0.92795	.	0.165226	0.41097	D	0.000951	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-33.4605	19.7093	0.96085	0.0:0.0:1.0:0.0	.	.	.	.	X	594	.	ENSP00000340271:E594X	E	+	1	0	TAF3	8047259	1.000000	0.71417	1.000000	0.80357	0.221000	0.24807	7.092000	0.76930	2.764000	0.94973	0.650000	0.86243	GAA		0.373	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		31	41	1	0	6.00712e-18	1	8.10414e-18	31	41					T	8007253	G	T	8007253	4	4	48	1	0	0	0	0	0	1	0	0	15540	943	33	2	1790	2	TAF3	10	8007253	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	238266	8007253	127527494	2401	6869										
TAF3	83860	broad.mit.edu	37	chr10	8007600	8007600	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggacaaaaaggagaagaaGaaaaagaaggaaaaagagaa	12	1	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:8007600G>A	ENST00000344293.5	+	3	2333	c.2127G>A	c.(2125-2127)aaG>aaA	p.K709K		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	709	Lys-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						aggagaagaagaaaaagaagg	0.413																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(2125-2127)aaG>aaA		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							18	18	18					10																	8007600		1858	4079	5937	SO:0001819	synonymous_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8007600G>A	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2127G>A	10.37:g.8007600G>A			Somatic					p.K709K	NM_031923.3	NP_114129.1	WXS	Illumina GAIIx	Phase_I	Q5VWG9	TAF3_HUMAN			3	2333	+			709			Lys-rich.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	37	c.2127G>A	CCDS41487.1																																																																																				0.413	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		10	18	0	0	0	1	0	10	18					A	8007600	G	A	8007600	2	1	48	1	0	0	0	0	0	0	0	1	15540	933	33	3		3	TAF3	10	8007600	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	347	8007600	127527147	2402	6870										
UPF2	26019	broad.mit.edu	37	chr10	12071012	12071012	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgatcagcattaataatatTttttagctgttcatagatta	5	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:12071012T>G	ENST00000356352.2	-	2	1350	c.877A>C	c.(877-879)Aat>Cat	p.N293H	UPF2_ENST00000357604.5_Missense_Mutation_p.N293H|UPF2_ENST00000397053.2_Missense_Mutation_p.N293H			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	293	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTAATAATATTTTTTAGCTGT	0.378																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(877-879)Aat>Cat		UPF2 regulator of nonsense transcripts homolog (yeast)							61	61	61					10																	12071012		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12071012T>G	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.877A>C	10.37:g.12071012T>G	ENSP00000348708:p.Asn293His		Somatic				UPF2_ENST00000397053.2_Missense_Mutation_p.N293H|UPF2_ENST00000357604.5_Missense_Mutation_p.N293H	p.N293H			WXS	Illumina GAIIx	Phase_I	Q9HAU5	RENT2_HUMAN			2	1350	-		Renal(717;0.228)	293			MIF4G 1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.877A>C	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	T	10.02	1.237428	0.22711	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.21734	1.99;1.99;1.99	6.17	5.03	0.67393	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.199552	0.51477	D	0.000091	T	0.27098	0.0664	L	0.36672	1.1	0.50632	D	0.999885	D;B	0.59767	0.986;0.191	P;B	0.56865	0.808;0.044	T	0.01578	-1.1320	10	0.15952	T	0.53	.	12.6751	0.56889	0.0:0.065:0.0:0.935	.	263;293	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	H	293;293;263;293;263	ENSP00000348708:N293H;ENSP00000350221:N293H;ENSP00000380244:N293H	ENSP00000313617:N263H	N	-	1	0	UPF2	12111018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.249000	0.72427	2.371000	0.80710	0.533000	0.62120	AAT		0.378	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			22	26	0	0	0	1	0	22	26					G	12071012	T	G	12071012	3	3	48	1	0	0	0	0	1	0	0	0	17019	1841	64	4	3021	4	UPF2	10	12071012	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	4063412	12071012	123463735	2403	6871										
DHTKD1	55526	broad.mit.edu	37	chr10	12136102	12136102	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggctgtgccatcatccatgTcaatggagacagcccagagg	13	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:12136102T>C	ENST00000263035.4	+	7	1252	c.1190T>C	c.(1189-1191)gTc>gCc	p.V397A	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	397					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)			ATCATCCATGTCAATGGAGAC	0.517																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(1189-1191)gTc>gCc		dehydrogenase E1 and transketolase domain containing 1							182	151	162					10																	12136102		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12136102T>C	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.1190T>C	10.37:g.12136102T>C	ENSP00000263035:p.Val397Ala		Somatic				DHTKD1_ENST00000465617.1_3'UTR	p.V397A	NM_018706.5	NP_061176.3	WXS	Illumina GAIIx	Phase_I	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		7	1252	+		Renal(717;0.228)	397					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.1190T>C	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.217544	0.79352	.	.	ENSG00000181192	ENST00000263035;ENST00000415935	D;D	0.99143	-5.48;-5.48	4.59	4.59	0.56863	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99423	0.9796	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98512	1.0619	10	0.87932	D	0	-14.5002	13.9962	0.64402	0.0:0.0:0.0:1.0	.	397	Q96HY7	DHTK1_HUMAN	A	397;95	ENSP00000263035:V397A;ENSP00000400625:V95A	ENSP00000263035:V397A	V	+	2	0	DHTKD1	12176108	1.000000	0.71417	0.996000	0.52242	0.718000	0.41266	7.859000	0.86982	1.706000	0.51276	0.402000	0.26972	GTC		0.517	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		21	91	0	0	0	1	0	21	91					C	12136102	T	C	12136102	3	2	48	1	0	0	0	0	1	0	0	0	4502	1667	58	4	1216	4	DHTKD1	10	12136102	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	65090	12136102	123398645	2404	6872										
SEPHS1	22929	broad.mit.edu	37	chr10	13375827	13375827	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcaacttacatgataaattCattgggttggcagacagtgg	10	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:13375827C>A	ENST00000327347.5	-	5	925	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	SEPHS1_ENST00000537130.1_Nonsense_Mutation_p.E117*|SEPHS1_ENST00000545675.1_Nonsense_Mutation_p.E184*|SEPHS1_ENST00000378614.4_Nonsense_Mutation_p.E184*	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	184					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						ATGATAAATTCATTGGGTTGG	0.438																																						ENST00000327347.5																			0				cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						c.(550-552)Gaa>Taa		selenophosphate synthetase 1							86	83	84					10																	13375827		2203	4300	6503	SO:0001587	stop_gained	22929				protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	g.chr10:13375827C>A	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.550G>T	10.37:g.13375827C>A	ENSP00000367893:p.Glu184*		Somatic				SEPHS1_ENST00000545675.1_Nonsense_Mutation_p.E184*|SEPHS1_ENST00000537130.1_Nonsense_Mutation_p.E117*|SEPHS1_ENST00000378614.4_Nonsense_Mutation_p.E184*	p.E184*	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	WXS	Illumina GAIIx	Phase_I	P49903	SPS1_HUMAN			5	925	-			184					B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Nonsense_Mutation	SNP	ENST00000327347.5	37	c.550G>T	CCDS7098.1	.	.	.	.	.	.	.	.	.	.	C	39	7.563265	0.98361	.	.	ENSG00000086475	ENST00000327347;ENST00000319684;ENST00000378614;ENST00000545675;ENST00000537130	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-25.2094	19.3079	0.94171	0.0:1.0:0.0:0.0	.	.	.	.	X	184;184;184;184;117	.	ENSP00000367887:E184X	E	-	1	0	SEPHS1	13415833	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.805000	0.86005	2.550000	0.86006	0.655000	0.94253	GAA		0.438	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1	NM_012247		18	19	1	0	1.33834e-09	1	1.61283e-09	18	19					A	13375827	C	A	13375827	4	1	48	1	0	0	0	0	0	1	0	0	14069	835	29	2	648	2	SEPHS1	10	13375827	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1239725	13375827	122158920	2405	6873										
FAM107B	83641	broad.mit.edu	37	chr10	14572353	14572353	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttttgattcataagaagttCtctgtgaagatcttgatggt	9	4	3	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:14572353C>T	ENST00000378470.1	-	2	392	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	FAM107B_ENST00000378458.2_Missense_Mutation_p.E36K|FAM107B_ENST00000478076.1_Missense_Mutation_p.E36K|FAM107B_ENST00000479731.1_Missense_Mutation_p.E36K|FAM107B_ENST00000378467.4_Missense_Mutation_p.E36K|FAM107B_ENST00000496330.1_Missense_Mutation_p.E36K|FAM107B_ENST00000468747.1_Missense_Mutation_p.E36K|FAM107B_ENST00000378465.3_Missense_Mutation_p.E36K|FAM107B_ENST00000181796.2_Missense_Mutation_p.E211K|FAM107B_ENST00000378462.1_Missense_Mutation_p.E36K|FAM107B_ENST00000471815.1_5'UTR	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	36					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						ATAAGAAGTTCTCTGTGAAGA	0.333																																						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.(631-633)Gaa>Aaa		family with sequence similarity 107, member B							112	110	111					10																	14572353		2203	4300	6503	SO:0001583	missense	83641							g.chr10:14572353C>T	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.106G>A	10.37:g.14572353C>T	ENSP00000367731:p.Glu36Lys		Somatic				FAM107B_ENST00000471815.1_5'UTR|FAM107B_ENST00000378470.1_Missense_Mutation_p.E36K|FAM107B_ENST00000378465.3_Missense_Mutation_p.E36K|FAM107B_ENST00000378467.4_Missense_Mutation_p.E36K|FAM107B_ENST00000478076.1_Missense_Mutation_p.E36K|FAM107B_ENST00000468747.1_Missense_Mutation_p.E36K|FAM107B_ENST00000378458.2_Missense_Mutation_p.E36K|FAM107B_ENST00000479731.1_Missense_Mutation_p.E36K|FAM107B_ENST00000378462.1_Missense_Mutation_p.E36K|FAM107B_ENST00000496330.1_Missense_Mutation_p.E36K	p.E211K	NM_031453.2	NP_113641.2	WXS	Illumina GAIIx	Phase_I	Q9H098	F107B_HUMAN			3	864	-			36					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	ENST00000378470.1	37	c.631G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.230626	0.95207	.	.	ENSG00000065809	ENST00000378470;ENST00000181796;ENST00000468747;ENST00000378467;ENST00000378465;ENST00000378458;ENST00000478076;ENST00000378462;ENST00000378461;ENST00000496330;ENST00000479731;ENST00000468492;ENST00000452706;ENST00000489100;ENST00000494865;ENST00000475786;ENST00000488576;ENST00000442012;ENST00000482277;ENST00000472095	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.21	5.21	0.72293	.	0.047324	0.85682	N	0.000000	T	0.80808	0.4694	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.989	D	0.83639	0.0149	10	0.87932	D	0	-11.5042	17.7337	0.88386	0.0:1.0:0.0:0.0	.	211;36	Q9H098-2;Q9H098	.;F107B_HUMAN	K	36;211;36;36;36;36;36;36;36;36;36;36;36;36;36;36;36;36;36;36	ENSP00000367731:E36K;ENSP00000181796:E211K;ENSP00000418120:E36K;ENSP00000367728:E36K;ENSP00000367726:E36K;ENSP00000367719:E36K;ENSP00000417782:E36K;ENSP00000367723:E36K;ENSP00000418330:E36K;ENSP00000419603:E36K;ENSP00000420444:E36K;ENSP00000413676:E36K;ENSP00000420249:E36K;ENSP00000418395:E36K;ENSP00000417242:E36K;ENSP00000420314:E36K;ENSP00000397949:E36K;ENSP00000417845:E36K;ENSP00000419064:E36K	ENSP00000181796:E211K	E	-	1	0	FAM107B	14612359	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.487000	0.81328	2.436000	0.82500	0.591000	0.81541	GAA		0.333	FAM107B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046899.1	NM_031453		22	56	0	0	0	1	0	22	56					T	14572353	C	T	14572353	3	4	48	1	0	0	0	0	1	0	0	0	5395	922	32	3	301	3	FAM107B	10	14572353	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1196526	14572353	120962394	2406	6874										
FAM107B	83641	broad.mit.edu	37	chr10	14709678	14709678	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaggcatttaggttcttctcGaaattcttcttcctaagcgc	8	10	4	0	rs111681891		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:14709678G>A	ENST00000181796.2	-	2	657	c.424C>T	c.(424-426)Cga>Tga	p.R142*		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	74					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						GGTTCTTCTCGAAATTCTTCT	0.423																																						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.(424-426)Cga>Tga		family with sequence similarity 107, member B							124	113	117					10																	14709678		2203	4300	6503	SO:0001587	stop_gained	83641							g.chr10:14709678G>A	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	ENST00000181796.2:c.424C>T	10.37:g.14709678G>A	ENSP00000181796:p.Arg142*		Somatic					p.R142*	NM_031453.2	NP_113641.2	WXS	Illumina GAIIx	Phase_I	Q9H098	F107B_HUMAN			2	657	-			74					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Nonsense_Mutation	SNP	ENST00000181796.2	37	c.424C>T	CCDS7102.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121583	0.56613	.	.	ENSG00000065809	ENST00000181796	.	.	.	4.52	4.52	0.55395	.	0.873774	0.09578	N	0.783258	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	12.9327	0.58296	0.0:0.0:1.0:0.0	.	.	.	.	X	142	.	ENSP00000181796:R142X	R	-	1	2	FAM107B	14749684	0.221000	0.23642	0.429000	0.26710	0.190000	0.23558	4.235000	0.58666	2.518000	0.84900	0.555000	0.69702	CGA		0.423	FAM107B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356966.1	NM_031453		16	21	0	0	0	1	0	16	21					A	14709678	G	A	14709678	4	1	48	1	0	0	0	0	0	1	0	0	5395	1066	37	1	512	1	FAM107B	10	14709678	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	137325	14709678	120825069	2407	6875										
FAM107B	83641	broad.mit.edu	37	chr10	14816376	14816376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgcgggctgggccgcagtgCggtgacttgaattccgattc	15	12	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:14816376C>T	ENST00000181796.2	-	1	520	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					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						GGCCGCAGTGCGGTGACTTGA	0.592																																						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.(286-288)cGc>cAc		family with sequence similarity 107, member B							152	149	150					10																	14816376		2203	4300	6503	SO:0001583	missense	83641							g.chr10:14816376C>T	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	ENST00000181796.2:c.287G>A	10.37:g.14816376C>T	ENSP00000181796:p.Arg96His		Somatic					p.R96H	NM_031453.2	NP_113641.2	WXS	Illumina GAIIx	Phase_I	Q9H098	F107B_HUMAN			1	520	-			0					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	ENST00000181796.2	37	c.287G>A	CCDS7102.1	.	.	.	.	.	.	.	.	.	.	C	8.115	0.779626	0.16120	.	.	ENSG00000065809	ENST00000181796	T	0.46451	0.87	5.23	2.78	0.32641	.	0.156840	0.29722	N	0.011378	T	0.14830	0.0358	N	0.03608	-0.345	0.29068	N	0.883455	B	0.02656	0.0	B	0.01281	0.0	T	0.32295	-0.9912	10	0.02654	T	1	-17.2938	7.4638	0.27310	0.0:0.2504:0.0:0.7496	.	96	Q9H098-2	.	H	96	ENSP00000181796:R96H	ENSP00000181796:R96H	R	-	2	0	FAM107B	14856382	0.335000	0.24748	0.013000	0.15412	0.002000	0.02628	0.572000	0.23684	0.453000	0.26858	-0.290000	0.09829	CGC		0.592	FAM107B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356966.1	NM_031453		68	144	0	0	0	1	0	68	144					T	14816376	C	T	14816376	3	4	48	1	0	0	0	0	1	0	0	0	5395	768	27	1	653	1	FAM107B	10	14816376	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	106698	14816376	120718371	2408	6876										
ITGA8	8516	broad.mit.edu	37	chr10	15720728	15720728	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaaataattcaccttataaAaatccagactaaatcctgct	2	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:15720728A>C	ENST00000378076.3	-	5	976	c.623T>G	c.(622-624)tTt>tGt	p.F208C		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	208					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						CACCTTATAAAAATCCAGACT	0.403																																						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.(622-624)tTt>tGt		integrin, alpha 8							88	91	90					10																	15720728		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.chr10:15720728A>C	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.623T>G	10.37:g.15720728A>C	ENSP00000367316:p.Phe208Cys		Somatic					p.F208C	NM_003638.1	NP_003629.1	WXS	Illumina GAIIx	Phase_I	P53708	ITA8_HUMAN			5	976	-			208					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.623T>G	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.500386	0.85176	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.26518	1.73	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69101	-0.5234	10	0.87932	D	0	.	15.8341	0.78787	1.0:0.0:0.0:0.0	.	208;208	F5H818;P53708	.;ITA8_HUMAN	C	208	ENSP00000367316:F208C	ENSP00000367316:F208C	F	-	2	0	ITGA8	15760734	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.977000	0.88081	2.144000	0.66660	0.533000	0.62120	TTT		0.403	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		27	36	0	0	0	1	0	27	36					C	15720728	A	C	15720728	3	2	48	1	0	0	0	0	1	0	0	0	7891	14	1	4	2672	4	ITGA8	10	15720728	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	904352	15720728	119814019	2409	6877										
CUBN	8029	broad.mit.edu	37	chr10	16878296	16878296	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caactccagatttgaaaatgAccattgcagtactcatagaa	6	9	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:16878296A>G	ENST00000377833.4	-	63	10183	c.10118T>C	c.(10117-10119)gTc>gCc	p.V3373A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3373	CUB 25. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTGAAAATGACCATTGCAGT	0.398																																						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.(10117-10119)gTc>gCc		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						72	72	72					10																	16878296		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.chr10:16878296A>G	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.10118T>C	10.37:g.16878296A>G	ENSP00000367064:p.Val3373Ala		Somatic					p.V3373A	NM_001081.3	NP_001072.2	WXS	Illumina GAIIx	Phase_I	O60494	CUBN_HUMAN			63	10183	-			3373			CUB 25.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10118T>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985876	0.74589	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.44482	0.92	5.03	3.9	0.45041	CUB (5);	0.000000	0.34178	N	0.004182	T	0.51126	0.1656	M	0.74881	2.28	0.27271	N	0.958368	D	0.53462	0.96	P	0.51266	0.664	T	0.51252	-0.8729	10	0.87932	D	0	.	9.2513	0.37557	0.9175:0.0:0.0825:0.0	.	3373	O60494	CUBN_HUMAN	A	3373;214	ENSP00000367064:V3373A	ENSP00000367064:V3373A	V	-	2	0	CUBN	16918302	0.387000	0.25188	0.002000	0.10522	0.630000	0.37929	5.340000	0.65958	0.768000	0.33290	0.459000	0.35465	GTC		0.398	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		15	33	0	0	0	1	0	15	33					G	16878296	A	G	16878296	3	3	48	1	0	0	0	0	1	0	0	0	4053	275	10	4	773	4	CUBN	10	16878296	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1157568	16878296	118656451	2410	6878										
CUBN	8029	broad.mit.edu	37	chr10	16948356	16948356	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taattcctgactccgtcataGccaggagaagtaaagtttcc	8	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:16948356G>A	ENST00000377833.4	-	50	7823	c.7758C>T	c.(7756-7758)ggC>ggT	p.G2586G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2586	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)	CTCCGTCATAGCCAGGAGAAG	0.418																																						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.(7756-7758)ggC>ggT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						96	96	96					10																	16948356		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.chr10:16948356G>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.7758C>T	10.37:g.16948356G>A			Somatic					p.G2586G	NM_001081.3	NP_001072.2	WXS	Illumina GAIIx	Phase_I	O60494	CUBN_HUMAN			50	7823	-			2586			CUB 19.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.7758C>T	CCDS7113.1																																																																																				0.418	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		22	45	0	0	0	1	0	22	45					A	16948356	G	A	16948356	2	1	48	1	0	0	0	0	0	0	0	1	4053	958	34	3		3	CUBN	10	16948356	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	70060	16948356	118586391	2411	6879										
TRDMT1	1787	broad.mit.edu	37	chr10	17195593	17195593	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taacagctttgttatctgttCttcttgtgacaaattggtaa	7	6	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:17195593C>A	ENST00000377799.3	-	10	1035	c.988G>T	c.(988-990)Gaa>Taa	p.E330*	TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000412821.3_Nonsense_Mutation_p.E306*|TRDMT1_ENST00000351358.4_Nonsense_Mutation_p.E284*|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000488990.1_Nonsense_Mutation_p.E207*|TRDMT1_ENST00000457442.2_Nonsense_Mutation_p.E249*	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	330	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	GTTATCTGTTCTTCTTGTGAC	0.343																																						ENST00000377799.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						c.(988-990)Gaa>Taa		tRNA aspartic acid methyltransferase 1							134	128	130					10																	17195593		2203	4300	6503	SO:0001587	stop_gained	1787				tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	g.chr10:17195593C>A	AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"DNA (cytosine-5-)-methyltransferase 2"	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.988G>T	10.37:g.17195593C>A	ENSP00000367030:p.Glu330*		Somatic				TRDMT1_ENST00000488990.1_Nonsense_Mutation_p.E207*|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000457442.2_Nonsense_Mutation_p.E249*|TRDMT1_ENST00000351358.4_Nonsense_Mutation_p.E284*|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000412821.3_Nonsense_Mutation_p.E306*|TRDMT1_ENST00000452380.2_5'UTR	p.E330*	NM_004412.5	NP_004403.1	WXS	Illumina GAIIx	Phase_I	O14717	TRDMT_HUMAN			10	1035	-			330					B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Nonsense_Mutation	SNP	ENST00000377799.3	37	c.988G>T	CCDS7114.1	.	.	.	.	.	.	.	.	.	.	C	37	6.125312	0.97305	.	.	ENSG00000107614	ENST00000377799;ENST00000412821;ENST00000351358;ENST00000457442;ENST00000488990	.	.	.	5.62	5.62	0.85841	.	0.096845	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-25.5464	20.0205	0.97499	0.0:1.0:0.0:0.0	.	.	.	.	X	330;306;284;249;207	.	ENSP00000324328:E284X	E	-	1	0	TRDMT1	17235599	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	5.038000	0.64177	2.801000	0.96364	0.650000	0.86243	GAA		0.343	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047024.3	NM_004412		10	20	1	0	0.000442599	1	0.00046913	10	20					A	17195593	C	A	17195593	4	1	48	1	0	0	0	0	0	1	0	0	16482	922	32	2	195	2	TRDMT1	10	17195593	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	247237	17195593	118339154	2412	6880										
ST8SIA6	338596	broad.mit.edu	37	chr10	17365098	17365098	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcttggatttatagtcacaaGatttgttttactgccaacat	7	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:17365098G>A	ENST00000377602.4	-	7	768	c.694C>T	c.(694-696)Ctt>Ttt	p.L232F		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	232					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						ATAGTCACAAGATTTGTTTTA	0.343																																						ENST00000377602.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						c.(694-696)Ctt>Ttt		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6							200	180	187					10																	17365098		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.chr10:17365098G>A		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.694C>T	10.37:g.17365098G>A	ENSP00000366827:p.Leu232Phe		Somatic					p.L232F	NM_001004470.1	NP_001004470.1	WXS	Illumina GAIIx	Phase_I	P61647	SIA8F_HUMAN			7	768	-			232					B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.694C>T	CCDS31158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.87|14.87	2.664433|2.664433	0.47572|0.47572	.|.	.|.	ENSG00000148488|ENSG00000148488	ENST00000377610;ENST00000377602|ENST00000440449	T|.	0.32988|.	1.43|.	5.12|5.12	4.21|4.21	0.49690|0.49690	.|.	0.114638|.	0.64402|.	D|.	0.000009|.	T|T	0.60650|0.60650	0.2285|0.2285	L|L	0.43646|0.43646	1.37|1.37	0.53005|0.53005	D|D	0.999968|0.999968	D|.	0.60575|.	0.988|.	D|.	0.63283|.	0.913|.	T|T	0.58725|0.58725	-0.7586|-0.7586	10|5	0.29301|.	T|.	0.29|.	-15.0787|-15.0787	15.9033|15.9033	0.79400|0.79400	0.0:0.1435:0.8565:0.0|0.0:0.1435:0.8565:0.0	.|.	232|.	P61647|.	SIA8F_HUMAN|.	F|F	62;232|52	ENSP00000366827:L232F|.	ENSP00000366827:L232F|.	L|S	-|-	1|2	0|0	ST8SIA6|ST8SIA6	17405104|17405104	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.904000|0.904000	0.53231|0.53231	5.058000|5.058000	0.64300|0.64300	1.511000|1.511000	0.48818|0.48818	0.563000|0.563000	0.77884|0.77884	CTT|TCT		0.343	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470		21	46	0	0	0	1	0	21	46					A	17365098	G	A	17365098	3	1	48	1	0	0	0	0	1	0	0	0	15251	942	33	3	510	3	ST8SIA6	10	17365098	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	169505	17365098	118169649	2413	6881										
NEBL	10529	broad.mit.edu	37	chr10	21074700	21074700	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttaacaaactcaatgtaattCgctgggagcattcctgttct	7	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:21074700C>T	ENST00000377122.4	-	28	3417	c.3021G>A	c.(3019-3021)gcG>gcA	p.A1007A	NEBL_ENST00000377159.4_Silent_p.A229A|NEBL_ENST00000417816.2_Silent_p.A263A	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	1007	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)	p.A263A(1)|p.A1007A(1)		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						CAATGTAATTCGCTGGGAGCA	0.413																																						ENST00000377122.4																			2	Substitution - coding silent(2)	p.A263A(1)|p.A1007A(1)	lung(2)	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.(3019-3021)gcG>gcA		nebulette							84	75	78					10																	21074700		2203	4300	6503	SO:0001819	synonymous_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21074700C>T	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.3021G>A	10.37:g.21074700C>T			Somatic				NEBL_ENST00000417816.2_Silent_p.A263A|NEBL_ENST00000377159.4_Silent_p.A229A	p.A1007A	NM_006393.2	NP_006384.1	WXS	Illumina GAIIx	Phase_I	O76041	NEBL_HUMAN			28	3417	-			1007			SH3.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	c.3021G>A	CCDS7134.1																																																																																				0.413	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		13	23	0	0	0	1	0	13	23					T	21074700	C	T	21074700	2	4	48	1	0	0	0	0	0	0	0	1	10312	871	31	1		1	NEBL	10	21074700	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3709602	21074700	114460047	2414	6882										
KIAA1217	56243	broad.mit.edu	37	chr10	24820774	24820774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccagaagattctccaaattCggaacaggacttggaaaagc	9	9	1	2	rs534553518		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:24820774C>T	ENST00000376454.3	+	15	3128	c.3098C>T	c.(3097-3099)tCg>tTg	p.S1033L	KIAA1217_ENST00000376462.1_Missense_Mutation_p.S953L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S998L|KIAA1217_ENST00000376451.2_Missense_Mutation_p.S716L|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S997L|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S716L|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S716L|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S716L	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1033					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCTCCAAATTCGGAACAGGAC	0.493													C|||	1	0.000199681	0	0.0014	5008	,	,		18533	0		0	False		,,,				2504	0					ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2146-2148)tCg>tTg		KIAA1217							33	35	34					10																	24820774		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24820774C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3098C>T	10.37:g.24820774C>T	ENSP00000365637:p.Ser1033Leu		Somatic				KIAA1217_ENST00000307544.6_Missense_Mutation_p.S716L|KIAA1217_ENST00000376454.3_Missense_Mutation_p.S1033L|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S953L|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S716L|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S716L|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S997L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S998L	p.S716L			WXS	Illumina GAIIx	Phase_I	Q5T5P2	SKT_HUMAN			10	2407	+			1033					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.2147C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889375	0.72524	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.37	5.37	0.77165	.	0.352749	0.29002	N	0.013452	T	0.65512	0.2698	L	0.58101	1.795	0.41608	D	0.988891	P;B;P;P;P;P;D;P	0.76494	0.68;0.008;0.68;0.934;0.823;0.823;0.999;0.83	B;B;B;B;B;B;D;B	0.79784	0.08;0.002;0.116;0.157;0.157;0.157;0.993;0.131	T	0.58429	-0.7638	10	0.12103	T	0.63	.	14.8517	0.70300	0.0:0.8573:0.1427:0.0	.	998;997;716;716;716;716;1033;1033	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	L	953;998;716;1033;997;716;716;716;716;716	ENSP00000365645:S953L;ENSP00000392625:S998L;ENSP00000365637:S1033L;ENSP00000365635:S997L;ENSP00000302343:S716L;ENSP00000379722:S716L;ENSP00000365634:S716L;ENSP00000379723:S716L	ENSP00000302343:S716L	S	+	2	0	KIAA1217	24860780	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	4.597000	0.61062	2.692000	0.91855	0.655000	0.94253	TCG		0.493	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		14	19	0	0	0	1	0	14	19					T	24820774	C	T	24820774	3	4	48	1	0	0	0	0	1	0	0	0	8225	893	31	1	3156	1	KIAA1217	10	24820774	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3746074	24820774	110713973	2415	6883										
ARHGAP21	57584	broad.mit.edu	37	chr10	24910202	24910202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catggctgatggggcagatgGcagccagggatagcagattg	17	7	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:24910202G>A	ENST00000396432.2	-	9	1108	c.622C>T	c.(622-624)Cca>Tca	p.P208S	ARHGAP21_ENST00000320481.6_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	207					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						GGGGCAGATGGCAGCCAGGGA	0.502																																						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.(622-624)Cca>Tca		Rho GTPase activating protein 21							43	42	42					10																	24910202		2203	4299	6502	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24910202G>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.622C>T	10.37:g.24910202G>A	ENSP00000379709:p.Pro208Ser		Somatic				ARHGAP21_ENST00000320481.6_5'UTR	p.P208S	NM_020824.3	NP_065875.3	WXS	Illumina GAIIx	Phase_I	Q5T5U3	RHG21_HUMAN			9	1108	-			207					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.622C>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	5.631	0.301112	0.10678	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T	0.43294	2.98;0.95;1.02	5.35	0.125	0.14718	.	0.414752	0.28834	N	0.013990	T	0.16685	0.0401	N	0.16478	0.41	0.25813	N	0.984374	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.11012	-1.0605	10	0.09590	T	0.72	.	1.0423	0.01562	0.1635:0.1944:0.2699:0.3722	.	198;207	F8W9U9;Q5T5U3	.;RHG21_HUMAN	S	208;197;198;208;43	ENSP00000379709:P208S;ENSP00000365592:P198S;ENSP00000405018:P208S	ENSP00000365592:P198S	P	-	1	0	ARHGAP21	24950208	0.993000	0.37304	0.046000	0.18839	0.902000	0.53008	1.085000	0.30840	0.076000	0.16826	-0.145000	0.13849	CCA		0.502	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		6	20	0	0	0	1	0	6	20					A	24910202	G	A	24910202	3	1	48	1	0	0	0	0	1	0	0	0	871	1203	42	3	5326	3	ARHGAP21	10	24910202	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	89428	24910202	110624545	2416	6884										
THNSL1	79896	broad.mit.edu	37	chr10	25314002	25314002	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagcaggattttgtagctgActggtgctctgagggagagt	15	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:25314002A>G	ENST00000524413.1	+	3	2197	c.1850A>G	c.(1849-1851)gAc>gGc	p.D617G	THNSL1_ENST00000376356.4_Missense_Mutation_p.D617G			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	617						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	TTTGTAGCTGACTGGTGCTCT	0.413																																						ENST00000524413.1																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(1849-1851)gAc>gGc		threonine synthase-like 1 (S. cerevisiae)	L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)						83	91	88					10																	25314002		2203	4300	6503	SO:0001583	missense	79896				threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity	g.chr10:25314002A>G	AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"threonine synthase-like 1 (bacterial)"			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.1850A>G	10.37:g.25314002A>G	ENSP00000434887:p.Asp617Gly		Somatic				THNSL1_ENST00000376356.4_Missense_Mutation_p.D617G	p.D617G			WXS	Illumina GAIIx	Phase_I	Q8IYQ7	THNS1_HUMAN			3	2197	+			617					B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	c.1850A>G	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	A	0.492	-0.874804	0.02550	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.10477	2.87;2.87	5.94	4.82	0.62117	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.055946	0.64402	D	0.000001	T	0.02767	0.0083	N	0.01188	-0.97	0.40776	D	0.983132	B	0.09022	0.002	B	0.12156	0.007	T	0.35943	-0.9768	10	0.02654	T	1	-20.9885	7.0789	0.25219	0.7949:0.0:0.2051:0.0	.	617	Q8IYQ7	THNS1_HUMAN	G	617	ENSP00000434887:D617G;ENSP00000365534:D617G	ENSP00000365534:D617G	D	+	2	0	THNSL1	25354008	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	4.350000	0.59392	2.279000	0.76181	0.459000	0.35465	GAC		0.413	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838		29	45	0	0	0	1	0	29	45					G	25314002	A	G	25314002	3	3	48	1	0	0	0	0	1	0	0	0	15877	275	10	4	1852	4	THNSL1	10	25314002	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	403800	25314002	110220745	2417	6885										
GPR158	57512	broad.mit.edu	37	chr10	25887640	25887640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatcaaaagttcaaaagcacGtatctattgtggcttctgaa	7	7	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:25887640G>A	ENST00000376351.3	+	11	3444	c.3085G>A	c.(3085-3087)Gta>Ata	p.V1029I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1029					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						TCAAAAGCACGTATCTATTGT	0.458																																						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.(3085-3087)Gta>Ata		G protein-coupled receptor 158							65	64	64					10																	25887640		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887640G>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.3085G>A	10.37:g.25887640G>A	ENSP00000365529:p.Val1029Ile		Somatic				GPR158_ENST00000490549.1_3'UTR	p.V1029I	NM_020752.2	NP_065803.2	WXS	Illumina GAIIx	Phase_I	Q5T848	GP158_HUMAN			11	3444	+			1029					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.3085G>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134221	0.56828	.	.	ENSG00000151025	ENST00000376351	T	0.35789	1.29	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000010	T	0.39091	0.1065	M	0.68952	2.095	0.58432	D	0.999994	D	0.55172	0.97	B	0.39465	0.3	T	0.37663	-0.9696	10	0.33940	T	0.23	.	19.2193	0.93790	0.0:0.0:1.0:0.0	.	1029	Q5T848	GP158_HUMAN	I	1029	ENSP00000365529:V1029I	ENSP00000365529:V1029I	V	+	1	0	GPR158	25927646	1.000000	0.71417	0.603000	0.28903	0.214000	0.24535	9.476000	0.97823	2.524000	0.85096	0.655000	0.94253	GTA		0.458	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		19	52	0	0	0	1	0	19	52					A	25887640	G	A	25887640	3	1	48	1	0	0	0	0	1	0	0	0	6671	1145	40	1	3127	1	GPR158	10	25887640	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	573638	25887640	109647107	2418	6886										
GPR158	57512	broad.mit.edu	37	chr10	25887693	25887693	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccactttttccttaaaggaGaaatctcaccacaagcctaa	4	13	1	1	rs370053624	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:25887693G>T	ENST00000376351.3	+	11	3497	c.3138G>T	c.(3136-3138)gaG>gaT	p.E1046D	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1046					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						CCTTAAAGGAGAAATCTCACC	0.463													G|||	2	0.000399361	0	0	5008	,	,		19775	0.002		0	False		,,,				2504	0					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.(3136-3138)gaG>gaT		G protein-coupled receptor 158							81	81	81					10																	25887693		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887693G>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.3138G>T	10.37:g.25887693G>T	ENSP00000365529:p.Glu1046Asp		Somatic				GPR158_ENST00000490549.1_3'UTR	p.E1046D	NM_020752.2	NP_065803.2	WXS	Illumina GAIIx	Phase_I	Q5T848	GP158_HUMAN			11	3497	+			1046					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.3138G>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	9.401	1.077892	0.20227	.	.	ENSG00000151025	ENST00000376351	T	0.35048	1.33	5.27	1.19	0.21007	.	0.387573	0.25014	N	0.033819	T	0.21962	0.0529	L	0.50333	1.59	0.18873	N	0.999981	B	0.31817	0.341	B	0.25614	0.062	T	0.12477	-1.0546	10	0.22109	T	0.4	.	1.9547	0.03374	0.1407:0.2455:0.3618:0.252	.	1046	Q5T848	GP158_HUMAN	D	1046	ENSP00000365529:E1046D	ENSP00000365529:E1046D	E	+	3	2	GPR158	25927699	0.985000	0.35326	0.334000	0.25495	0.997000	0.91878	0.243000	0.18106	-0.047000	0.13423	0.655000	0.94253	GAG		0.463	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		23	59	1	0	1.85244e-09	1	2.22951e-09	23	59					T	25887693	G	T	25887693	3	4	48	1	0	0	0	0	1	0	0	0	6671	933	33	2	3180	2	GPR158	10	25887693	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	53	25887693	109647054	2419	6887										
MYO3A	53904	broad.mit.edu	37	chr10	26465660	26465660	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatctgaagaatatttcattCtgcagaaaaaattgaatgaa	6	4	3	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:26465660C>A	ENST00000265944.5	+	31	4490	c.4324C>A	c.(4324-4326)Ctg>Atg	p.L1442M	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1442					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						ATATTTCATTCTGCAGAAAAA	0.378																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4324-4326)Ctg>Atg		myosin IIIA							55	54	54					10																	26465660		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.chr10:26465660C>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4324C>A	10.37:g.26465660C>A	ENSP00000265944:p.Leu1442Met		Somatic				MYO3A_ENST00000543632.1_Intron	p.L1442M	NM_017433.4	NP_059129.3	WXS	Illumina GAIIx	Phase_I	Q8NEV4	MYO3A_HUMAN			31	4490	+			1442					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4324C>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683783	0.68157	.	.	ENSG00000095777	ENST00000265944	D	0.85088	-1.94	5.91	3.95	0.45737	.	0.132515	0.52532	N	0.000079	D	0.85703	0.5758	L	0.49126	1.545	0.80722	D	1	D	0.71674	0.998	P	0.60949	0.881	D	0.83450	0.0048	10	0.37606	T	0.19	.	5.3515	0.16038	0.1492:0.6265:0.1442:0.0802	.	1442	Q8NEV4	MYO3A_HUMAN	M	1442	ENSP00000265944:L1442M	ENSP00000265944:L1442M	L	+	1	2	MYO3A	26505666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.787000	0.47798	1.488000	0.48433	0.650000	0.86243	CTG		0.378	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		8	31	1	0	0.0381472	1	0.0387537	8	31					A	26465660	C	A	26465660	3	1	48	1	0	0	0	0	1	0	0	0	10085	912	32	2	4438	2	MYO3A	10	26465660	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	577967	26465660	109069087	2420	6888										
PDSS1	23590	broad.mit.edu	37	chr10	27012969	27012969	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcttcagctcgggtcaaaaGaaaatgagaatgaaagattt	9	5	3	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27012969G>T	ENST00000376215.5	+	8	801	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	PDSS1_ENST00000376203.5_Nonsense_Mutation_p.E250*	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	250					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CGGGTCAAAAGAAAATGAGAA	0.413																																						ENST00000376215.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						c.(748-750)Gaa>Taa		prenyl (decaprenyl) diphosphate synthase, subunit 1							89	83	85					10																	27012969		2203	4300	6503	SO:0001587	stop_gained	23590				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	g.chr10:27012969G>T	AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"coenzyme Q1 homolog (yeast)"	607429	"trans-prenyltransferase"	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.748G>T	10.37:g.27012969G>T	ENSP00000365388:p.Glu250*		Somatic				PDSS1_ENST00000376203.5_Nonsense_Mutation_p.E250*	p.E250*	NM_014317.3	NP_055132.2	WXS	Illumina GAIIx	Phase_I	Q5T2R2	DPS1_HUMAN			8	801	+			250					Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Nonsense_Mutation	SNP	ENST00000376215.5	37	c.748G>T	CCDS31168.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494884	0.85069	.	.	ENSG00000148459	ENST00000376215;ENST00000376203;ENST00000396343	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-20.3358	19.4237	0.94732	0.0:0.0:1.0:0.0	.	.	.	.	X	250;250;211	.	ENSP00000365376:E250X	E	+	1	0	PDSS1	27052975	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.813000	0.99286	2.652000	0.90054	0.655000	0.94253	GAA		0.413	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1			19	47	1	0	2.37509e-13	1	3.04217e-13	19	47					T	27012969	G	T	27012969	4	4	48	1	0	0	0	0	0	1	0	0	11702	943	33	2	778	2	PDSS1	10	27012969	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	547309	27012969	108521778	2421	6889										
ABI1	10006	broad.mit.edu	37	chr10	27052890	27052890	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggagggacagaaatgttttCtaataaaatagtttataatt	8	2	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27052890C>A	ENST00000376142.2	-	8	892		c.e8-1		ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376140.3_Intron|ABI1_ENST00000376134.3_Intron|ABI1_ENST00000376166.1_Intron|ABI1_ENST00000359188.4_Intron|ABI1_ENST00000355394.4_Splice_Site|ABI1_ENST00000346832.5_Splice_Site|ABI1_ENST00000376170.4_Intron|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376160.1_Intron|ABI1_ENST00000376138.3_Intron|ABI1_ENST00000376139.2_Intron|ABI1_ENST00000536334.1_Intron	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1						actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAAATGTTTTCTAATAAAATA	0.398																																						ENST00000355394.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e8-1		abl-interactor 1							61	70	67					10																	27052890		2203	4300	6503	SO:0001630	splice_region_variant	10006				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding	g.chr10:27052890C>A	U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"spectrin SH3 domain binding protein 1"	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.821-1G>T	10.37:g.27052890C>A			Somatic				ABI1_ENST00000346832.5_Splice_Site|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376134.3_Intron|ABI1_ENST00000376138.3_Intron|ABI1_ENST00000376139.2_Intron|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376140.3_Intron|ABI1_ENST00000376142.2_Splice_Site|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376160.1_Intron|ABI1_ENST00000376166.1_Intron|ABI1_ENST00000359188.4_Intron|ABI1_ENST00000376170.4_Intron				WXS	Illumina GAIIx	Phase_I	Q8IZP0	ABI1_HUMAN			8	1047	-								A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Splice_Site	SNP	ENST00000376142.2	37		CCDS7150.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070896	0.76301	.	.	ENSG00000136754	ENST00000376142;ENST00000355394;ENST00000346832	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7469	0.88423	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABI1	27092896	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.589000	0.61006	2.619000	0.88677	0.467000	0.42956	.		0.398	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	NM_005470	Intron	12	28	1	0	0.00010058	1	0.000108553	12	28					A	27052890	C	A	27052890	5	1	48	1	0	0	0	0	0	0	1	0	88	927	32	2	726	2	ABI1	10	27052890	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	39921	27052890	108481857	2422	6890										
YME1L1	10730	broad.mit.edu	37	chr10	27411889	27411889	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatataacacaaggagcattCgcctttgcttcccctaagaa	6	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27411889C>T	ENST00000326799.3	-	12	1435	c.1287G>A	c.(1285-1287)gcG>gcA	p.A429A	YME1L1_ENST00000463270.1_5'Flank|YME1L1_ENST00000375972.3_Silent_p.A339A|YME1L1_ENST00000376016.3_Silent_p.A372A	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	429					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAGGAGCATTCGCCTTTGCTT	0.328																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1285-1287)gcG>gcA		YME1-like 1 ATPase							97	95	95					10																	27411889		2203	4300	6503	SO:0001819	synonymous_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27411889C>T	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1287G>A	10.37:g.27411889C>T			Somatic				YME1L1_ENST00000376016.3_Silent_p.A372A|YME1L1_ENST00000375972.3_Silent_p.A339A	p.A429A	NM_139312.2	NP_647473.1	WXS	Illumina GAIIx	Phase_I	Q96TA2	YMEL1_HUMAN			12	1435	-			429					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.1287G>A	CCDS7152.1																																																																																				0.328	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		16	32	0	0	0	1	0	16	32					T	27411889	C	T	27411889	2	4	48	1	0	0	0	0	0	0	0	1	17502	871	31	1		1	YME1L1	10	27411889	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	358999	27411889	108122858	2423	6891										
RAB18	22931	broad.mit.edu	37	chr10	27826849	27826849	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgtacaatgtgcctttgaaGaacttgttgaaaagatcatt	9	5	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27826849G>T	ENST00000356940.6	+	7	592	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	RAB18_ENST00000535776.1_Nonsense_Mutation_p.E100*|RAB18_ENST00000465772.1_3'UTR|RAB18_ENST00000375802.3_Nonsense_Mutation_p.E119*	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	164					brain development (GO:0007420)|endoplasmic reticulum tubular network organization (GO:0071786)|eye development (GO:0001654)|GTP catabolic process (GO:0006184)|lipid particle organization (GO:0034389)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(1)|lung(1)	3						TGCCTTTGAAGAACTTGTTGA	0.428																																						ENST00000356940.6																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(490-492)Gaa>Taa		RAB18, member RAS oncogene family							115	111	112					10																	27826849		2203	4300	6503	SO:0001587	stop_gained	22931				endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding	g.chr10:27826849G>T	AJ277145	CCDS7155.1, CCDS58073.1, CCDS73080.1, CCDS73081.1	10p12	2011-03-07			ENSG00000099246	ENSG00000099246		"RAB, member RAS oncogene"	14244	protein-coding gene	gene with protein product		602207				10648831	Standard	NM_021252		Approved		uc001itw.4	Q9NP72	OTTHUMG00000017861	ENST00000356940.6:c.490G>T	10.37:g.27826849G>T	ENSP00000349415:p.Glu164*		Somatic				RAB18_ENST00000535776.1_Nonsense_Mutation_p.E100*|RAB18_ENST00000465772.1_3'UTR|RAB18_ENST00000375802.3_Nonsense_Mutation_p.E119*	p.E164*	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	WXS	Illumina GAIIx	Phase_I	Q9NP72	RAB18_HUMAN			7	592	+			164					B3KMC7|B7Z333|D3DRW1|Q53FX8|Q56UN9|Q6FIH1	Nonsense_Mutation	SNP	ENST00000356940.6	37	c.490G>T	CCDS7155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.568171|4.568171	0.86439|0.86439	.|.	.|.	ENSG00000099246|ENSG00000099246	ENST00000356940;ENST00000535776;ENST00000540268;ENST00000375802|ENST00000423465	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76601	.|0.4010	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73591	.|-0.3934	.|4	0.38643|.	T|.	0.18|.	.|.	19.5352|19.5352	0.95251|0.95251	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	164;100;142;119|276	.|.	ENSP00000349415:E164X|.	E|R	+|+	1|2	0|0	RAB18|RAB18	27866855|27866855	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.776000|9.776000	0.99001|0.99001	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.428	RAB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047326.2	NM_021252		25	50	1	0	1.10923e-09	1	1.34134e-09	25	50					T	27826849	G	T	27826849	4	4	48	1	0	0	0	0	0	1	0	0	12918	943	33	2	516	2	RAB18	10	27826849	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	414960	27826849	107707898	2424	6892										
MKX	283078	broad.mit.edu	37	chr10	28023451	28023451	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cactaattcttcctcaaattCattggagctaaaagatcccg	5	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:28023451C>A	ENST00000375790.5	-	5	1204	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	MKX_ENST00000419761.1_Nonsense_Mutation_p.E258*			Q8IYA7	MKX_HUMAN	mohawk homeobox	258					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TCCTCAAATTCATTGGAGCTA	0.433																																						ENST00000375790.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(772-774)Gaa>Taa		mohawk homeobox							191	180	183					10																	28023451		2203	4300	6503	SO:0001587	stop_gained	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:28023451C>A	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"Homeoboxes / TALE class"	23729	protein-coding gene	gene with protein product		601332	"chromosome 10 open reading frame 48", "iroquois homeobox protein-like 1"	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.772G>T	10.37:g.28023451C>A	ENSP00000364946:p.Glu258*		Somatic				MKX_ENST00000419761.1_Nonsense_Mutation_p.E258*	p.E258*			WXS	Illumina GAIIx	Phase_I	Q8IYA7	MKX_HUMAN			5	1204	-			258					B3KWM5	Nonsense_Mutation	SNP	ENST00000375790.5	37	c.772G>T	CCDS7156.1	.	.	.	.	.	.	.	.	.	.	C	42	9.256402	0.99117	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	.	.	.	5.99	5.99	0.97316	.	0.045054	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-32.0402	20.5371	0.99232	0.0:1.0:0.0:0.0	.	.	.	.	X	258	.	ENSP00000364946:E258X	E	-	1	0	MKX	28063457	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.438000	0.80431	2.857000	0.98124	0.650000	0.86243	GAA		0.433	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		37	71	1	0	5.43694e-19	1	7.38452e-19	37	71					A	28023451	C	A	28023451	4	1	48	1	0	0	0	0	0	1	0	0	9619	835	29	2	298	2	MKX	10	28023451	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	196602	28023451	107511296	2425	6893										
ARMC4	55130	broad.mit.edu	37	chr10	28270421	28270421	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agacatattttctgaaaattTtggtgatttttctcttaaaa	5	4	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:28270421T>C	ENST00000305242.5	-	7	1002	c.910A>G	c.(910-912)Aaa>Gaa	p.K304E	ARMC4_ENST00000537576.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.K161E|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	304					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCTGAAAATTTTGGTGATTTT	0.294																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(910-912)Aaa>Gaa		armadillo repeat containing 4							61	67	65					10																	28270421		2201	4289	6490	SO:0001583	missense	55130						binding	g.chr10:28270421T>C	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.910A>G	10.37:g.28270421T>C	ENSP00000306410:p.Lys304Glu		Somatic				ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.K161E	p.K304E	NM_018076.2	NP_060546.2	WXS	Illumina GAIIx	Phase_I	Q5T2S8	ARMC4_HUMAN			7	1002	-			304					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.910A>G	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.434131	0.01108	.	.	ENSG00000169126	ENST00000305242;ENST00000434029;ENST00000239715	T;T;T	0.45668	1.51;0.9;0.89	5.01	2.2	0.27929	.	0.571786	0.19513	N	0.112463	T	0.32466	0.0830	L	0.54323	1.7	0.09310	N	1	B	0.15930	0.015	B	0.15052	0.012	T	0.22487	-1.0215	10	0.24483	T	0.36	-10.4582	5.9319	0.19144	0.0:0.1068:0.2891:0.6042	.	304	Q5T2S8	ARMC4_HUMAN	E	304;198;161	ENSP00000306410:K304E;ENSP00000398155:K198E;ENSP00000239715:K161E	ENSP00000239715:K161E	K	-	1	0	ARMC4	28310427	0.413000	0.25400	0.504000	0.27639	0.510000	0.34073	0.342000	0.19926	0.201000	0.20466	-0.291000	0.09656	AAA		0.294	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		14	32	0	0	0	1	0	14	32					C	28270421	T	C	28270421	3	2	48	1	0	0	0	0	1	0	0	0	953	1850	64	4	2280	4	ARMC4	10	28270421	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	246970	28270421	107264326	2426	6894										
SVIL	6840	broad.mit.edu	37	chr10	29769557	29769557	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggggagcctgctatagtcGaattccaggatgtgccagac	13	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:29769557G>A	ENST00000355867.4	-	29	6038	c.5286C>T	c.(5284-5286)ttC>ttT	p.F1762F	PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Silent_p.F676F|SVIL_ENST00000375398.2_Silent_p.F1762F|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000538146.1_Silent_p.F554F|SVIL_ENST00000375400.3_Silent_p.F1336F	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1762					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCTATAGTCGAATTCCAGGA	0.557																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(5284-5286)ttC>ttT		supervillin							107	96	100					10																	29769557		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29769557G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5286C>T	10.37:g.29769557G>A			Somatic				PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Silent_p.F676F|SVIL_ENST00000375400.3_Silent_p.F1336F|SVIL_ENST00000355867.4_Silent_p.F1762F|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000538146.1_Silent_p.F554F|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000423223.1_RNA	p.F1762F			WXS	Illumina GAIIx	Phase_I	O95425	SVIL_HUMAN			31	5735	-		Breast(68;0.103)	1762					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.5286C>T	CCDS7164.1																																																																																				0.557	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			38	65	0	0	0	1	0	38	65					A	29769557	G	A	29769557	2	1	48	1	0	0	0	0	0	0	0	1	15436	1049	37	1		1	SVIL	10	29769557	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1499136	29769557	105765190	2427	6895										
MAP3K8	1326	broad.mit.edu	37	chr10	30728192	30728192	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaccacaggaatctggaattTtattaaacatggtacgtttc	8	7	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:30728192T>G	ENST00000263056.1	+	3	1021	c.325T>G	c.(325-327)Tta>Gta	p.L109V	MAP3K8_ENST00000542547.1_Missense_Mutation_p.L109V|MAP3K8_ENST00000375322.2_Missense_Mutation_p.L109V|MAP3K8_ENST00000375321.1_Missense_Mutation_p.L109V	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	109					cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				ATCTGGAATTTTATTAAACAT	0.403																																						ENST00000263056.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(325-327)Tta>Gta		mitogen-activated protein kinase kinase kinase 8							67	65	66					10																	30728192		2203	4300	6503	SO:0001583	missense	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30728192T>G	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.325T>G	10.37:g.30728192T>G	ENSP00000263056:p.Leu109Val		Somatic				MAP3K8_ENST00000375321.1_Missense_Mutation_p.L109V|MAP3K8_ENST00000375322.2_Missense_Mutation_p.L109V|MAP3K8_ENST00000542547.1_Missense_Mutation_p.L109V	p.L109V	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	WXS	Illumina GAIIx	Phase_I	P41279	M3K8_HUMAN			3	1021	+		Prostate(175;0.151)	109					A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	c.325T>G	CCDS7166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.97|14.97	2.694548|2.694548	0.48202|0.48202	.|.	.|.	ENSG00000107968|ENSG00000107968	ENST00000430603|ENST00000375328;ENST00000263056;ENST00000542547;ENST00000415139;ENST00000375322;ENST00000413724;ENST00000375321	.|T;T;T;T;T	.|0.71341	.|-0.56;-0.56;4.21;0.99;-0.56	5.41|5.41	1.32|1.32	0.21799|0.21799	.|.	.|0.065377	.|0.64402	.|D	.|0.000008	T|T	0.50017|0.50017	0.1591|0.1591	L|L	0.29908|0.29908	0.895|0.895	0.44825|0.44825	D|D	0.997835|0.997835	.|B	.|0.32031	.|0.352	.|B	.|0.28784	.|0.094	T|T	0.43956|0.43956	-0.9359|-0.9359	5|10	.|0.72032	.|D	.|0.01	.|.	3.0946|3.0946	0.06305|0.06305	0.3247:0.3422:0.0:0.333|0.3247:0.3422:0.0:0.333	.|.	.|109	.|P41279	.|M3K8_HUMAN	L|V	29|109	.|ENSP00000263056:L109V;ENSP00000443610:L109V;ENSP00000409653:L109V;ENSP00000391275:L109V;ENSP00000364470:L109V	.|ENSP00000263056:L109V	F|L	+|+	3|1	2|2	MAP3K8|MAP3K8	30768198|30768198	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.143000|1.143000	0.31553|0.31553	0.422000|0.422000	0.26005|0.26005	0.533000|0.533000	0.62120|0.62120	TTT|TTA		0.403	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		25	32	0	0	0	1	0	25	32					G	30728192	T	G	30728192	3	3	48	1	0	0	0	0	1	0	0	0	9265	1838	64	4	327	4	MAP3K8	10	30728192	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	958635	30728192	104806555	2428	6896										
MAP3K8	1326	broad.mit.edu	37	chr10	30740639	30740639	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagtgttcaaatgaccgaagAtgtctattttcctaaggacc	8	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:30740639A>G	ENST00000263056.1	+	6	1535	c.839A>G	c.(838-840)gAt>gGt	p.D280G	MAP3K8_ENST00000542547.1_Missense_Mutation_p.D280G|MAP3K8_ENST00000375321.1_Missense_Mutation_p.D280G	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				ATGACCGAAGATGTCTATTTT	0.328																																						ENST00000263056.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(838-840)gAt>gGt		mitogen-activated protein kinase kinase kinase 8							81	83	82					10																	30740639		2203	4300	6503	SO:0001583	missense	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30740639A>G	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.839A>G	10.37:g.30740639A>G	ENSP00000263056:p.Asp280Gly		Somatic				MAP3K8_ENST00000375321.1_Missense_Mutation_p.D280G|MAP3K8_ENST00000542547.1_Missense_Mutation_p.D280G	p.D280G	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	WXS	Illumina GAIIx	Phase_I	P41279	M3K8_HUMAN			6	1535	+		Prostate(175;0.151)	280			Protein kinase.		A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	c.839A>G	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.431769	0.62844	.	.	ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000375321	T;T;T	0.65549	-0.16;-0.16;-0.16	5.57	5.57	0.84162	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.137297	0.64402	D	0.000005	T	0.58481	0.2125	L	0.28504	0.86	0.80722	D	1	P	0.38711	0.643	B	0.43889	0.435	T	0.62849	-0.6767	10	0.62326	D	0.03	.	15.7213	0.77713	1.0:0.0:0.0:0.0	.	280	P41279	M3K8_HUMAN	G	280	ENSP00000263056:D280G;ENSP00000443610:D280G;ENSP00000364470:D280G	ENSP00000263056:D280G	D	+	2	0	MAP3K8	30780645	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	8.585000	0.90802	2.098000	0.63641	0.383000	0.25322	GAT		0.328	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		20	35	0	0	0	1	0	20	35					G	30740639	A	G	30740639	3	3	48	1	0	0	0	0	1	0	0	0	9265	333	12	4	853	4	MAP3K8	10	30740639	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	12447	30740639	104794108	2429	6897										
KIF5B	3799	broad.mit.edu	37	chr10	32306131	32306131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgactgcttcctttatgcGatctacttcttgctgatagc	7	12	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:32306131G>A	ENST00000302418.4	-	24	3158	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C	KIF5B_ENST00000493889.1_5'Flank	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	901					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)				TCCTTTATGCGATCTACTTCT	0.418			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.(2701-2703)Cgc>Tgc		kinesin family member 5B							313	278	290					10																	32306131		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.chr10:32306131G>A	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.2701C>T	10.37:g.32306131G>A	ENSP00000307078:p.Arg901Cys		Somatic					p.R901C	NM_004521.2	NP_004512.1	WXS	Illumina GAIIx	Phase_I	P33176	KINH_HUMAN			24	3158	-		Prostate(175;0.0137)	901					A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.2701C>T	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918429	0.92249	.	.	ENSG00000170759	ENST00000302418	D	0.86956	-2.19	5.57	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.94486	0.8225	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95453	0.8536	10	0.72032	D	0.01	.	16.0073	0.80372	0.0:0.0:0.8648:0.1352	.	901	P33176	KINH_HUMAN	C	901	ENSP00000307078:R901C	ENSP00000307078:R901C	R	-	1	0	KIF5B	32346137	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.914000	0.87478	1.329000	0.45376	0.467000	0.42956	CGC		0.418	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		68	143	0	0	0	1	0	68	143					A	32306131	G	A	32306131	3	1	48	1	0	0	0	0	1	0	0	0	8315	1058	37	1	198	1	KIF5B	10	32306131	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1565492	32306131	103228616	2430	6898										
EPC1	80314	broad.mit.edu	37	chr10	32561054	32561054	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcaccaaagcagaagcagcAaactgtgcactagcagaatc	9	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:32561054A>G	ENST00000263062.8	-	13	2243	c.1974T>C	c.(1972-1974)ttT>ttC	p.F658F	EPC1_ENST00000319778.6_Silent_p.F635F|RP11-166N17.1_ENST00000415731.2_RNA|EPC1_ENST00000375110.2_Silent_p.F585F	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	658					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)				CAGAAGCAGCAAACTGTGCAC	0.398																																						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.(1903-1905)ttT>ttC		enhancer of polycomb homolog 1 (Drosophila)							69	61	64					10																	32561054		2203	4300	6503	SO:0001819	synonymous_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.chr10:32561054A>G	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.1974T>C	10.37:g.32561054A>G			Somatic				EPC1_ENST00000263062.8_Silent_p.F658F|EPC1_ENST00000375110.2_Silent_p.F585F	p.F635F	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	WXS	Illumina GAIIx	Phase_I	Q9H2F5	EPC1_HUMAN			12	2207	-		Prostate(175;0.0199)	658					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Silent	SNP	ENST00000263062.8	37	c.1905T>C	CCDS7172.1																																																																																				0.398	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			15	29	0	0	0	1	0	15	29					G	32561054	A	G	32561054	2	3	48	1	0	0	0	0	0	0	0	1	5162	127	5	4		4	EPC1	10	32561054	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	254923	32561054	102973693	2431	6899										
CCDC7	79741	broad.mit.edu	37	chr10	32745259	32745259	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagcacttaaagaagaacaAaatgtatgtattctgtatat	7	4	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:32745259A>C	ENST00000362006.5	+	4	996	c.453A>C	c.(451-453)caA>caC	p.Q151H	CCDC7_ENST00000539197.1_Missense_Mutation_p.Q151H|CCDC7_ENST00000545067.1_Missense_Mutation_p.Q151H|CCDC7_ENST00000535327.1_Missense_Mutation_p.Q151H|CCDC7_ENST00000277657.6_Missense_Mutation_p.Q151H|CCDC7_ENST00000537047.1_Missense_Mutation_p.Q151H	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	151										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				AAGAAGAACAAAATGTATGTA	0.313																																						ENST00000545067.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14						c.(451-453)caA>caC		coiled-coil domain containing 7							74	73	73					10																	32745259		2202	4294	6496	SO:0001583	missense	221016							g.chr10:32745259A>C	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.453A>C	10.37:g.32745259A>C	ENSP00000355078:p.Gln151His		Somatic				CCDC7_ENST00000535327.1_Missense_Mutation_p.Q151H|CCDC7_ENST00000537047.1_Missense_Mutation_p.Q151H|CCDC7_ENST00000539197.1_Missense_Mutation_p.Q151H|CCDC7_ENST00000362006.5_Missense_Mutation_p.Q151H|CCDC7_ENST00000277657.6_Missense_Mutation_p.Q151H	p.Q151H			WXS	Illumina GAIIx	Phase_I	Q96M83	CCDC7_HUMAN			4	749	+		Breast(68;0.000207)|Prostate(175;0.0107)	151					Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	ENST00000362006.5	37	c.453A>C	CCDS7173.1	.	.	.	.	.	.	.	.	.	.	A	0.346	-0.947772	0.02304	.	.	ENSG00000216937	ENST00000324147;ENST00000277657;ENST00000362006;ENST00000545067;ENST00000539197;ENST00000537047;ENST00000535327	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	4.72	-6.51	0.01878	.	.	.	.	.	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.19063	-1.0317	9	0.39692	T	0.17	-4.7994	4.5445	0.12074	0.3616:0.3627:0.0:0.2757	.	151;151	A6YT98;Q96M83	.;CCDC7_HUMAN	H	151	ENSP00000277657:Q151H;ENSP00000355078:Q151H;ENSP00000439930:Q151H;ENSP00000441041:Q151H;ENSP00000440632:Q151H;ENSP00000442531:Q151H	ENSP00000277657:Q151H	Q	+	3	2	CCDC7	32785265	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.843000	0.04350	-0.718000	0.04949	-0.339000	0.08088	CAA		0.313	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023		12	18	0	0	0	1	0	12	18					C	32745259	A	C	32745259	3	2	48	1	0	0	0	0	1	0	0	0	2844	11	1	4	463	4	CCDC7	10	32745259	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	184205	32745259	102789488	2432	6900										
ZNF25	219749	broad.mit.edu	37	chr10	38242653	38242653	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagcttggctttcctggtatCttgcttctagatcatgaatg	9	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:38242653C>A	ENST00000302609.7	-	5	484	c.272G>T	c.(271-273)aGa>aTa	p.R91I	ZNF25_ENST00000374633.1_5'UTR|AL117337.1_ENST00000582458.1_RNA	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	91					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)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TTCCTGGTATCTTGCTTCTAG	0.328																																						ENST00000302609.7																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(271-273)aGa>aTa		zinc finger protein 25							116	110	112					10																	38242653		2203	4300	6503	SO:0001583	missense	219749				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38242653C>A	AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"Zinc fingers, C2H2-type", "-"	13043	protein-coding gene	gene with protein product		194528	"zinc finger protein 25 (KOX 19)"			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.272G>T	10.37:g.38242653C>A	ENSP00000302222:p.Arg91Ile		Somatic				ZNF25_ENST00000374633.1_5'UTR	p.R91I	NM_145011.2	NP_659448.1	WXS	Illumina GAIIx	Phase_I	P17030	ZNF25_HUMAN			5	484	-		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)	91					A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	ENST00000302609.7	37	c.272G>T	CCDS7195.1	.	.	.	.	.	.	.	.	.	.	C	7.594	0.671395	0.14776	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.05139	3.49	4.83	-0.59	0.11679	.	0.963572	0.08499	N	0.936783	T	0.05181	0.0138	L	0.47716	1.5	0.09310	N	1	P	0.41041	0.736	B	0.33042	0.157	T	0.36456	-0.9747	10	0.52906	T	0.07	-1.1383	4.2883	0.10865	0.0:0.4586:0.1638:0.3776	.	91	P17030	ZNF25_HUMAN	I	91;55	ENSP00000302222:R91I	ENSP00000302222:R91I	R	-	2	0	ZNF25	38282659	0.000000	0.05858	0.000000	0.03702	0.522000	0.34438	-0.627000	0.05521	0.066000	0.16515	0.655000	0.94253	AGA		0.328	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966		4	31	1	0	0.150653	1	0.151842	4	31					A	38242653	C	A	38242653	3	1	48	1	0	0	0	0	1	0	0	0	17809	913	32	2	1106	2	ZNF25	10	38242653	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5497394	38242653	97292094	2433	6901										
ZNF33A	7581	broad.mit.edu	37	chr10	38344819	38344819	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtcatgaatgtggaaaaatCttttacaataaatcatacct	5	6	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:38344819C>A	ENST00000458705.2	+	5	1922	c.1764C>A	c.(1762-1764)atC>atA	p.I588I	ZNF33A_ENST00000307441.9_Silent_p.I588I|ZNF33A_ENST00000374618.3_Silent_p.I589I|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Silent_p.I595I			Q06730	ZN33A_HUMAN	zinc finger protein 33A	588					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						GTGGAAAAATCTTTTACAATA	0.378																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(1765-1767)atC>atA		zinc finger protein 33A							76	76	76					10																	38344819		2203	4300	6503	SO:0001819	synonymous_variant	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344819C>A	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.1764C>A	10.37:g.38344819C>A			Somatic				ZNF33A_ENST00000432900.2_Silent_p.I595I|ZNF33A_ENST00000307441.9_Silent_p.I588I|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Silent_p.I588I	p.I589I	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	1945	+			588					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Silent	SNP	ENST00000458705.2	37	c.1767C>A	CCDS31182.1																																																																																				0.378	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		26	60	1	0	1.42536e-11	1	1.77514e-11	26	60					A	38344819	C	A	38344819	2	1	48	1	0	0	0	0	0	0	0	1	17869	903	32	2		2	ZNF33A	10	38344819	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	102166	38344819	97189928	2434	6902										
ZNF37A	7587	broad.mit.edu	37	chr10	38406445	38406445	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaccttctgaatataataaAaatgggaacagcttctggct	8	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:38406445A>C	ENST00000361085.5	+	7	711	c.366A>C	c.(364-366)aaA>aaC	p.K122N	ZNF37A_ENST00000351773.3_Missense_Mutation_p.K122N	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	122					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AATATAATAAAAATGGGAACA	0.328																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(364-366)aaA>aaC		zinc finger protein 37A							72	85	81					10																	38406445		2201	4295	6496	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38406445A>C	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"Zinc fingers, C2H2-type", "-"	13102	protein-coding gene	gene with protein product			"zinc finger protein 37a (KOX 21)"			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.366A>C	10.37:g.38406445A>C	ENSP00000354377:p.Lys122Asn		Somatic				ZNF37A_ENST00000361085.4_Missense_Mutation_p.K122N	p.K122N	NM_001007094.2	NP_001007095.1	WXS	Illumina GAIIx	Phase_I	P17032	ZN37A_HUMAN			8	1196	+			122					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.366A>C	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	A	9.098	1.003306	0.19121	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.08634	3.07;3.07	2.62	2.62	0.31277	.	.	.	.	.	T	0.07052	0.0179	L	0.31664	0.95	0.09310	N	1	B	0.23650	0.089	B	0.19391	0.025	T	0.27839	-1.0062	9	0.62326	D	0.03	.	8.7176	0.34421	1.0:0.0:0.0:0.0	.	122	P17032	ZN37A_HUMAN	N	122	ENSP00000329141:K122N;ENSP00000354377:K122N	ENSP00000329141:K122N	K	+	3	2	ZNF37A	38446451	0.000000	0.05858	0.508000	0.27688	0.207000	0.24258	-0.678000	0.05209	1.205000	0.43262	0.482000	0.46254	AAA		0.328	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		35	82	0	0	0	1	0	35	82					C	38406445	A	C	38406445	3	2	48	1	0	0	0	0	1	0	0	0	17887	11	1	4	380	4	ZNF37A	10	38406445	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	61626	38406445	97128302	2435	6903										
ZNF485	220992	broad.mit.edu	37	chr10	44112192	44112192	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatccttttaagtcatcagaGaattcatactggccagaaac	6	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:44112192G>T	ENST00000361807.3	+	5	895	c.701G>T	c.(700-702)aGa>aTa	p.R234I	ZNF485_ENST00000374437.2_Missense_Mutation_p.R143I|ZNF485_ENST00000374435.3_Missense_Mutation_p.R234I	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	234					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						AGTCATCAGAGAATTCATACT	0.393																																						ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(700-702)aGa>aTa		zinc finger protein 485							53	58	56					10																	44112192		2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112192G>T	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.701G>T	10.37:g.44112192G>T	ENSP00000354694:p.Arg234Ile		Somatic				ZNF485_ENST00000374435.3_Missense_Mutation_p.R234I|ZNF485_ENST00000374437.2_Missense_Mutation_p.R143I	p.R234I	NM_145312.3	NP_660355.2	WXS	Illumina GAIIx	Phase_I	Q8NCK3	ZN485_HUMAN			5	895	+			234					B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.701G>T	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300985	0.40694	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.24908	1.83;1.83;1.83	2.34	2.34	0.29019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24928	0.0605	L	0.60904	1.88	0.44603	D	0.997574	P	0.36974	0.576	B	0.36289	0.221	T	0.15350	-1.0440	9	0.51188	T	0.08	.	10.772	0.46327	0.0:0.0:1.0:0.0	.	234	Q8NCK3	ZN485_HUMAN	I	234;143;234	ENSP00000354694:R234I;ENSP00000363560:R143I;ENSP00000363558:R234I	ENSP00000354694:R234I	R	+	2	0	ZNF485	43432198	0.004000	0.15560	0.999000	0.59377	0.949000	0.60115	1.362000	0.34148	1.613000	0.50231	0.462000	0.41574	AGA		0.393	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		23	37	1	0	3.28513e-13	1	4.19729e-13	23	37					T	44112192	G	T	44112192	3	4	48	1	0	0	0	0	1	0	0	0	17953	942	33	2	715	2	ZNF485	10	44112192	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5705747	44112192	91422555	2436	6904										
ZNF485	220992	broad.mit.edu	37	chr10	44112550	44112550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actcacagtggaaataaaccGtatcagtgtcgtgactgtgg	11	8	2	1	rs141606024	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:44112550G>A	ENST00000361807.3	+	5	1253	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	ZNF485_ENST00000374437.2_Silent_p.P262P|ZNF485_ENST00000374435.3_Silent_p.P353P	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	353					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						GAAATAAACCGTATCAGTGTC	0.418													G|||	3	0.000599042	0	0.0029	5008	,	,		21085	0		0.001	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.(1057-1059)ccG>ccA		zinc finger protein 485		G		2,4404	4.2+/-10.8	0,2,2201	117	107	111		1059	0.9	0	10	dbSNP_134	111	10,8590	7.1+/-27.0	0,10,4290	no	coding-synonymous	ZNF485	NM_145312.3		0,12,6491	AA,AG,GG		0.1163,0.0454,0.0923		353/442	44112550	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112550G>A	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.1059G>A	10.37:g.44112550G>A			Somatic				ZNF485_ENST00000374435.3_Silent_p.P353P|ZNF485_ENST00000374437.2_Silent_p.P262P	p.P353P	NM_145312.3	NP_660355.2	WXS	Illumina GAIIx	Phase_I	Q8NCK3	ZN485_HUMAN			5	1253	+			353					B4DSE6|Q96CL0	Silent	SNP	ENST00000361807.3	37	c.1059G>A	CCDS7205.2																																																																																				0.418	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		22	50	0	0	0	1	0	22	50					A	44112550	G	A	44112550	2	1	48	1	0	0	0	0	0	0	0	1	17953	1132	40	1		1	ZNF485	10	44112550	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	358	44112550	91422197	2437	6905										
ALOX5	240	broad.mit.edu	37	chr10	45936008	45936008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaccatcacccaccttctgcGaacacatctggtgtctgagg	9	14	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:45936008G>A	ENST00000374391.2	+	8	1165	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	ALOX5_ENST00000542434.1_Missense_Mutation_p.R371Q	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	371	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)	p.R371Q(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CACCTTCTGCGAACACATCTG	0.537																																						ENST00000374391.2																			1	Substitution - Missense(1)	p.R371Q(1)	large_intestine(1)	breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1111-1113)cGa>cAa		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						110	83	92					10																	45936008		2203	4300	6503	SO:0001583	missense	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45936008G>A	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1112G>A	10.37:g.45936008G>A	ENSP00000363512:p.Arg371Gln		Somatic				ALOX5_ENST00000542434.1_Missense_Mutation_p.R371Q	p.R371Q	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	WXS	Illumina GAIIx	Phase_I	P09917	LOX5_HUMAN			8	1165	+		Lung SC(717;0.0257)	371			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	c.1112G>A	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357962	0.41801	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	T;T	0.78126	-1.15;-1.15	5.96	5.96	0.96718	Lipoxygenase, C-terminal (4);	0.252412	0.46145	D	0.000320	T	0.69726	0.3143	M	0.70787	2.145	0.43214	D	0.995087	P;B;B	0.45176	0.852;0.157;0.276	B;B;B	0.29176	0.099;0.031;0.038	T	0.71856	-0.4466	10	0.35671	T	0.21	-26.3567	11.2072	0.48775	0.0827:0.0:0.9173:0.0	.	371;371;371	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	Q	371	ENSP00000437634:R371Q;ENSP00000363512:R371Q	ENSP00000363512:R371Q	R	+	2	0	ALOX5	45256014	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.062000	0.89475	2.833000	0.97629	0.650000	0.86243	CGA		0.537	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			17	24	0	0	0	1	0	17	24					A	45936008	G	A	45936008	3	1	48	1	0	0	0	0	1	0	0	0	540	1058	37	1	1142	1	ALOX5	10	45936008	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1823458	45936008	89598739	2438	6906										
ANUBL1	93550	broad.mit.edu	37	chr10	46122112	46122112	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgattgttcggttacacattCttctgaaggtaagacaatgt	9	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:46122112C>A	ENST00000344646.5	-	7	1374	c.1159G>T	c.(1159-1161)Gaa>Taa	p.E387*	ZFAND4_ENST00000374366.3_Nonsense_Mutation_p.E313*|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	387							zinc ion binding (GO:0008270)										GTTACACATTCTTCTGAAGGT	0.438																																						ENST00000374366.3																			0											c.(937-939)Gaa>Taa		zinc finger, AN1-type domain 4							109	103	105					10																	46122112		2203	4300	6503	SO:0001587	stop_gained	93550						zinc ion binding	g.chr10:46122112C>A	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.1159G>T	10.37:g.46122112C>A	ENSP00000339484:p.Glu387*		Somatic				ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000344646.5_Nonsense_Mutation_p.E387*	p.E313*			WXS	Illumina GAIIx	Phase_I	Q86XD8	ANUB1_HUMAN			8	1402	-			387					A8K8V4|B2RAX2|Q5VVY5	Nonsense_Mutation	SNP	ENST00000344646.5	37	c.937G>T	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917616	0.52546	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	.	.	.	5.61	-0.886	0.10590	.	10.162600	0.00541	N	0.000234	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-6.3314	3.1051	0.06339	0.1878:0.1851:0.4661:0.1609	.	.	.	.	X	387;313;269	.	ENSP00000339484:E387X	E	-	1	0	ANUBL1	45442118	0.024000	0.19004	0.000000	0.03702	0.008000	0.06430	1.053000	0.30442	-0.164000	0.10927	-0.882000	0.02950	GAA		0.438	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		33	57	1	0	1.74807e-11	1	2.17561e-11	33	57					A	46122112	C	A	46122112	4	1	48	1	0	0	0	0	0	1	0	0	713	922	32	2	1040	2	ANUBL1	10	46122112	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	186104	46122112	89412635	2439	6907										
PPYR1	5540	broad.mit.edu	37	chr10	47086821	47086821	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctggccttgctgctcccaaAatctccacaaggtgaaaaca	7	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:47086821A>C	ENST00000395716.1	+	2	123	c.38A>C	c.(37-39)aAa>aCa	p.K13T	NPY4R_ENST00000374312.1_Missense_Mutation_p.K13T			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	13					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)										CTGCTCCCAAAATCTCCACAA	0.493																																						ENST00000374312.1																			0											c.(37-39)aAa>aCa		neuropeptide Y receptor Y4							115	109	111					10																	47086821		2203	4300	6503	SO:0001583	missense	0							g.chr10:47086821A>C		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.38A>C	10.37:g.47086821A>C	ENSP00000379066:p.Lys13Thr		Somatic				NPY4R_ENST00000395716.1_Missense_Mutation_p.K13T	p.K13T	NM_005972.4	NP_005963.3	WXS	Illumina GAIIx	Phase_I					3	457	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.38A>C	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.589093	0.00864	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.69685	-0.42;-0.42	4.67	-6.79	0.01715	.	23.724200	0.00903	U	0.002375	T	0.35624	0.0938	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26538	-1.0100	10	0.12103	T	0.63	.	0.9609	0.01395	0.2473:0.343:0.1911:0.2186	.	13	P50391	NPY4R_HUMAN	T	13	ENSP00000363431:K13T;ENSP00000379066:K13T	ENSP00000363431:K13T	K	+	2	0	PPYR1	46506827	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.719000	0.04974	-0.999000	0.03442	-0.177000	0.13119	AAA		0.493	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			22	80	0	0	0	1	0	22	80					C	47086821	A	C	47086821	3	2	48	1	0	0	0	0	1	0	0	0	12428	14	1	4	40	4	PPYR1	10	47086821	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	964709	47086821	88447926	2440	6908										
PPYR1	5540	broad.mit.edu	37	chr10	47087310	47087310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctctccctgcccttcctggCcaacagcatcctggagaatg	8	17	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:47087310C>T	ENST00000395716.1	+	2	612	c.527C>T	c.(526-528)gCc>gTc	p.A176V	NPY4R_ENST00000374312.1_Missense_Mutation_p.A176V			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	176					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)										CCCTTCCTGGCCAACAGCATC	0.572																																						ENST00000374312.1																			0											c.(526-528)gCc>gTc		neuropeptide Y receptor Y4							184	147	160					10																	47087310		2203	4300	6503	SO:0001583	missense	0							g.chr10:47087310C>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.527C>T	10.37:g.47087310C>T	ENSP00000379066:p.Ala176Val		Somatic				NPY4R_ENST00000395716.1_Missense_Mutation_p.A176V	p.A176V	NM_005972.4	NP_005963.3	WXS	Illumina GAIIx	Phase_I					3	946	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.527C>T	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	c	4.551	0.102290	0.08731	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.70164	-0.46;-0.46	4.92	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.193036	0.46758	N	0.000273	T	0.36248	0.0960	N	0.04275	-0.24	0.36437	D	0.865263	B	0.10296	0.003	B	0.17979	0.02	T	0.36016	-0.9765	10	0.02654	T	1	.	8.829	0.35072	0.0:0.8051:0.0:0.1949	.	176	P50391	NPY4R_HUMAN	V	176	ENSP00000363431:A176V;ENSP00000379066:A176V	ENSP00000363431:A176V	A	+	2	0	PPYR1	46507316	1.000000	0.71417	0.821000	0.32701	0.947000	0.59692	3.048000	0.49862	0.558000	0.29135	0.604000	0.83254	GCC		0.572	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			27	117	0	0	0	1	0	27	117					T	47087310	C	T	47087310	3	4	48	1	0	0	0	0	1	0	0	0	12428	739	26	3	529	3	PPYR1	10	47087310	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	489	47087310	88447437	2441	6909										
PPYR1	5540	broad.mit.edu	37	chr10	47087465	47087465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccagtactgcctcccactgGgcttcatcctggtctgttat	8	14	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:47087465G>A	ENST00000395716.1	+	2	767	c.682G>A	c.(682-684)Ggc>Agc	p.G228S	NPY4R_ENST00000374312.1_Missense_Mutation_p.G228S			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	228					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)										CCTCCCACTGGGCTTCATCCT	0.607																																						ENST00000374312.1																			0											c.(682-684)Ggc>Agc		neuropeptide Y receptor Y4							191	155	167					10																	47087465		2203	4300	6503	SO:0001583	missense	0							g.chr10:47087465G>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"GPCR / Class A : Neuropeptide receptors : Y"	9329	protein-coding gene	gene with protein product		601790	"pancreatic polypeptide receptor 1"	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.682G>A	10.37:g.47087465G>A	ENSP00000379066:p.Gly228Ser		Somatic				NPY4R_ENST00000395716.1_Missense_Mutation_p.G228S	p.G228S	NM_005972.4	NP_005963.3	WXS	Illumina GAIIx	Phase_I					3	1101	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.682G>A	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	G	4.227	0.040996	0.08196	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.36157	1.27;1.27	5.12	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	1.012730	0.07890	N	0.971039	T	0.18635	0.0447	N	0.12831	0.26	0.22675	N	0.998865	B	0.19073	0.033	B	0.19946	0.027	T	0.29640	-1.0005	10	0.18276	T	0.48	.	3.6324	0.08137	0.2534:0.2046:0.542:0.0	.	228	P50391	NPY4R_HUMAN	S	228	ENSP00000363431:G228S;ENSP00000379066:G228S	ENSP00000363431:G228S	G	+	1	0	PPYR1	46507471	0.842000	0.29525	0.426000	0.26672	0.313000	0.28021	0.857000	0.27831	1.300000	0.44818	0.609000	0.83330	GGC		0.607	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			6	155	0	0	0	1	0	6	155					A	47087465	G	A	47087465	3	1	48	1	0	0	0	0	1	0	0	0	12428	1232	43	3	684	3	PPYR1	10	47087465	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	155	47087465	88447282	2442	6910										
PPYR1	5540	broad.mit.edu	37	chr10	47087545	47087545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttcacaagggcacctacagCttgcgagctgggcacatgaa	11	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:47087545C>T	ENST00000395716.1	+	2	847	c.762C>T	c.(760-762)agC>agT	p.S254S	NPY4R_ENST00000374312.1_Silent_p.S254S			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	254					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)										GCACCTACAGCTTGCGAGCTG	0.597																																						ENST00000374312.1																			0											c.(760-762)agC>agT		neuropeptide Y receptor Y4							157	117	131					10																	47087545		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr10:47087545C>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.762C>T	10.37:g.47087545C>T			Somatic				NPY4R_ENST00000395716.1_Silent_p.S254S	p.S254S	NM_005972.4	NP_005963.3	WXS	Illumina GAIIx	Phase_I					3	1181	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.762C>T	CCDS31193.1																																																																																				0.597	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			22	104	0	0	0	1	0	22	104					T	47087545	C	T	47087545	2	4	48	1	0	0	0	0	0	0	0	1	12428	796	28	3		3	PPYR1	10	47087545	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	80	47087545	88447202	2443	6911										
RBP3	5949	broad.mit.edu	37	chr10	48388279	48388279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggccgtgggctccccaatgaCcgtggcccgctgcaggtcct	14	16	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:48388279C>T	ENST00000224600.4	-	1	2712	c.2599G>A	c.(2599-2601)Gtc>Atc	p.V867I	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	867	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)	TCCCCAATGACCGTGGCCCGC	0.632																																						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.(2599-2601)Gtc>Atc		retinol binding protein 3, interstitial	Vitamin A(DB00162)						19	20	20					10																	48388279		2200	4294	6494	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388279C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2599G>A	10.37:g.48388279C>T	ENSP00000224600:p.Val867Ile		Somatic					p.V867I	NM_002900.2	NP_002891.1	WXS	Illumina GAIIx	Phase_I	P10745	RET3_HUMAN			1	2712	-			867			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.2599G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774360	0.31411	.	.	ENSG00000107618	ENST00000224600	T	0.64991	-0.13	5.35	3.33	0.38152	Interphotoreceptor retinol-binding (2);	0.171100	0.40640	N	0.001053	T	0.44307	0.1287	N	0.19112	0.55	0.40371	D	0.979345	B	0.19817	0.039	B	0.23150	0.044	T	0.29579	-1.0007	10	0.48119	T	0.1	-38.1938	7.9435	0.29971	0.0:0.7244:0.0:0.2756	.	867	P10745	RET3_HUMAN	I	867	ENSP00000224600:V867I	ENSP00000224600:V867I	V	-	1	0	RBP3	48008285	0.371000	0.25056	0.433000	0.26760	0.918000	0.54935	0.930000	0.28858	0.534000	0.28695	0.561000	0.74099	GTC		0.632	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		10	28	0	0	0	1	0	10	28					T	48388279	C	T	48388279	3	4	48	1	0	0	0	0	1	0	0	0	13172	507	18	3	1160	3	RBP3	10	48388279	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1300734	48388279	87146468	2444	6912										
RBP3	5949	broad.mit.edu	37	chr10	48389205	48389205	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagtgtggcccagcccagcGactgcataaggaaggcgaac	13	13	0	0	rs376396466		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:48389205G>A	ENST00000224600.4	-	1	1786	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	558	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)	CCAGCCCAGCGACTGCATAAG	0.687																																						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.(1672-1674)tCg>tTg		retinol binding protein 3, interstitial	Vitamin A(DB00162)	G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	52	53	53		1673	5.4	1	10		53	0,8600		0,0,4300	no	missense	RBP3	NM_002900.2	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	558/1248	48389205	1,13005	2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389205G>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.1673C>T	10.37:g.48389205G>A	ENSP00000224600:p.Ser558Leu		Somatic					p.S558L	NM_002900.2	NP_002891.1	WXS	Illumina GAIIx	Phase_I	P10745	RET3_HUMAN			1	1786	-			558			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1673C>T	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242849	0.58995	2.27E-4	0.0	ENSG00000107618	ENST00000224600	T	0.63744	-0.06	5.43	5.43	0.79202	Interphotoreceptor retinol-binding (2);	0.065730	0.64402	D	0.000010	T	0.81583	0.4853	M	0.84683	2.71	0.54753	D	0.999984	D	0.89917	1.0	D	0.70016	0.967	D	0.84509	0.0621	10	0.87932	D	0	-19.4469	18.2231	0.89907	0.0:0.0:1.0:0.0	.	558	P10745	RET3_HUMAN	L	558	ENSP00000224600:S558L	ENSP00000224600:S558L	S	-	2	0	RBP3	48009211	1.000000	0.71417	0.964000	0.40570	0.990000	0.78478	6.914000	0.75764	2.571000	0.86741	0.561000	0.74099	TCG		0.687	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		26	51	0	0	0	1	0	26	51					A	48389205	G	A	48389205	3	1	48	1	0	0	0	0	1	0	0	0	13172	1059	37	1	2086	1	RBP3	10	48389205	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	926	48389205	87145542	2445	6913										
GDF2	2658	broad.mit.edu	37	chr10	48413860	48413860	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtcccagccgatgtcctcGaagtttacccgcagggaggt	12	13	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:48413860G>A	ENST00000249598.1	-	2	1167	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	336					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|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)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.F336F(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGATGTCCTCGAAGTTTACCC	0.607																																						ENST00000249598.1																			1	Substitution - coding silent(1)	p.F336F(1)	large_intestine(1)	breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						c.(1006-1008)ttC>ttT		growth differentiation factor 2							72	71	72					10																	48413860		2203	4300	6503	SO:0001819	synonymous_variant	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48413860G>A	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"Endogenous ligands"	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.1008C>T	10.37:g.48413860G>A			Somatic					p.F336F	NM_016204.1	NP_057288.1	WXS	Illumina GAIIx	Phase_I	Q9UK05	GDF2_HUMAN			2	1167	-			336					Q5VSQ9|Q9Y571	Silent	SNP	ENST00000249598.1	37	c.1008C>T	CCDS7219.1																																																																																				0.607	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		28	62	0	0	0	1	0	28	62					A	48413860	G	A	48413860	2	1	48	1	0	0	0	0	0	0	0	1	6322	1049	37	1		1	GDF2	10	48413860	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	24655	48413860	87120887	2446	6914										
C10orf72	196740	broad.mit.edu	37	chr10	50315677	50315677	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggagccattggaccaggccGtccacttgttcctgtgcctg	12	13	0	0	rs552579024		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50315677G>T	ENST00000332853.4	-	2	442	c.419C>A	c.(418-420)aCg>aAg	p.T140K	VSTM4_ENST00000298454.3_Missense_Mutation_p.T140K	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	140	Ig-like.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGACCAGGCCGTCCACTTGTT	0.612																																						ENST00000332853.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.(418-420)aCg>aAg		V-set and transmembrane domain containing 4							107	98	101					10																	50315677		2203	4300	6503	SO:0001583	missense	196740					integral to membrane|plasma membrane		g.chr10:50315677G>T	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"Immunoglobulin superfamily / V-set domain containing"	26470	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 72"	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.419C>A	10.37:g.50315677G>T	ENSP00000331062:p.Thr140Lys		Somatic				VSTM4_ENST00000298454.3_Missense_Mutation_p.T140K	p.T140K	NM_001031746.3	NP_001026916.2	WXS	Illumina GAIIx	Phase_I	Q8IW00	CJ072_HUMAN			2	442	-			140			Ig-like.		B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	c.419C>A	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	G	9.468	1.094762	0.20471	.	.	ENSG00000165633	ENST00000332853;ENST00000298454	T;T	0.15372	3.28;2.43	5.75	3.87	0.44632	.	0.202196	0.52532	D	0.000067	T	0.09642	0.0237	L	0.42245	1.32	0.44685	D	0.997678	P;B	0.37781	0.608;0.017	B;B	0.30105	0.111;0.022	T	0.11717	-1.0576	10	0.02654	T	1	-13.7096	7.7421	0.28848	0.1386:0.0:0.7272:0.1342	.	140;140	Q8IW00-2;Q8IW00	.;VSTM4_HUMAN	K	140	ENSP00000331062:T140K;ENSP00000298454:T140K	ENSP00000298454:T140K	T	-	2	0	VSTM4	49985683	1.000000	0.71417	0.858000	0.33744	0.984000	0.73092	4.103000	0.57783	0.745000	0.32763	0.655000	0.94253	ACG		0.612	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		30	42	1	0	1.50538e-07	1	1.73672e-07	30	42					T	50315677	G	T	50315677	3	4	48	1	0	0	0	0	1	0	0	0	1617	1145	40	5	694	5	C10orf72	10	50315677	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1901817	50315677	85219070	2447	6915										
ERCC6	2074	broad.mit.edu	37	chr10	50732662	50732662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgatctgccaaatacttttCgaagcctgatgcttcattaa	6	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50732662C>T	ENST00000355832.5	-	5	892	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	PGBD3_ENST00000603152.1_Missense_Mutation_p.E272K|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E272K|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.E272K|PGBD3_ENST00000374127.3_5'Flank	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	272					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						AAATACTTTTCGAAGCCTGAT	0.458								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.(814-816)Gaa>Aaa	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							165	161	163					10																	50732662		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50732662C>T	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.814G>A	10.37:g.50732662C>T	ENSP00000348089:p.Glu272Lys		Somatic				ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E272K|PGBD3_ENST00000603152.1_Missense_Mutation_p.E272K|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.E272K	p.E272K	NM_000124.2	NP_000115.1	WXS	Illumina GAIIx	Phase_I	Q03468	ERCC6_HUMAN			5	892	-			272					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.814G>A	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	35	5.575942	0.96553	.	.	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	D;T;T	0.86432	-2.12;2.61;2.61	6.03	6.03	0.97812	.	.	.	.	.	D	0.91794	0.7404	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.58820	0.833;0.846	D	0.89682	0.3891	9	0.32370	T	0.25	-37.346	18.7472	0.91797	0.0:1.0:0.0:0.0	.	272;272	E7EV46;Q03468	.;ERCC6_HUMAN	K	272	ENSP00000348089:E272K;ENSP00000423550:E272K;ENSP00000387966:E272K	ENSP00000348089:E272K	E	-	1	0	ERCC6;RP11-123B3.6	50402668	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.461000	0.80834	2.854000	0.98071	0.655000	0.94253	GAA		0.458	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		47	85	0	0	0	1	0	47	85					T	50732662	C	T	50732662	3	4	48	1	0	0	0	0	1	0	0	0	5219	893	31	1	3735	1	ERCC6	10	50732662	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	416985	50732662	84802085	2448	6916										
SLC18A3	6572	broad.mit.edu	37	chr10	50819033	50819033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggtgtgggagcccaccctgCcgctgcccactccggccaat	12	17	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50819033C>T	ENST00000374115.3	+	1	687	c.247C>T	c.(247-249)Ccg>Tcg	p.P83S	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395559.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	83					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCCACCCTGCCGCTGCCCAC	0.721																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(247-249)Ccg>Tcg		solute carrier family 18 (vesicular acetylcholine transporter), member 3							22	22	22					10																	50819033		2200	4298	6498	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819033C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.247C>T	10.37:g.50819033C>T	ENSP00000363229:p.Pro83Ser		Somatic				CHAT_ENST00000339797.1_Intron	p.P83S	NM_003055.2	NP_003046.2	WXS	Illumina GAIIx	Phase_I	Q16572	VACHT_HUMAN			1	687	+			83					B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.247C>T	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	C	4.737	0.137117	0.09032	.	.	ENSG00000187714	ENST00000374115	T	0.04119	3.7	4.42	3.5	0.40072	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.814548	0.10621	U	0.653334	T	0.01835	0.0058	N	0.01874	-0.695	0.24406	N	0.994682	B	0.02656	0.0	B	0.09377	0.004	T	0.39482	-0.9612	10	0.05436	T	0.98	-5.7674	8.9238	0.35628	0.1683:0.6692:0.1625:0.0	.	83	Q16572	VACHT_HUMAN	S	83	ENSP00000363229:P83S	ENSP00000363229:P83S	P	+	1	0	SLC18A3	50489039	0.002000	0.14202	0.843000	0.33291	0.953000	0.61014	1.698000	0.37794	1.061000	0.40601	0.561000	0.74099	CCG		0.721	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		11	26	0	0	0	1	0	11	26					T	50819033	C	T	50819033	3	4	48	1	0	0	0	0	1	0	0	0	14442	739	26	3	249	3	SLC18A3	10	50819033	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	86371	50819033	84715714	2449	6917										
SLC18A3	6572	broad.mit.edu	37	chr10	50820378	50820378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctacaactactactacacccGcagctagcatccccactcct	3	19	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50820378G>A	ENST00000374115.3	+	1	2032	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000455728.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	531					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TACTACACCCGCAGCTAGCAT	0.667																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(1591-1593)cGc>cAc		solute carrier family 18 (vesicular acetylcholine transporter), member 3							56	65	62					10																	50820378		2191	4272	6463	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820378G>A	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1592G>A	10.37:g.50820378G>A	ENSP00000363229:p.Arg531His		Somatic				CHAT_ENST00000339797.1_Intron	p.R531H	NM_003055.2	NP_003046.2	WXS	Illumina GAIIx	Phase_I	Q16572	VACHT_HUMAN			1	2032	+			531					B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.1592G>A	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815876	0.50527	.	.	ENSG00000187714	ENST00000374115	T	0.05081	3.5	3.99	1.9	0.25705	.	0.829833	0.10151	U	0.709614	T	0.02267	0.0070	N	0.08118	0	0.21220	N	0.99975	P	0.51791	0.948	B	0.30316	0.114	T	0.41466	-0.9507	10	0.87932	D	0	-7.0867	3.5348	0.07790	0.2365:0.2157:0.5478:0.0	.	531	Q16572	VACHT_HUMAN	H	531	ENSP00000363229:R531H	ENSP00000363229:R531H	R	+	2	0	SLC18A3	50490384	0.793000	0.28825	1.000000	0.80357	0.336000	0.28762	0.572000	0.23684	0.979000	0.38497	0.555000	0.69702	CGC		0.667	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		15	133	0	0	0	1	0	15	133					A	50820378	G	A	50820378	3	1	48	1	0	0	0	0	1	0	0	0	14442	1087	38	1	1594	1	SLC18A3	10	50820378	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1345	50820378	84714369	2450	6918										
OGDHL	55753	broad.mit.edu	37	chr10	50943287	50943287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccagctctaaaatgtcttgCcctcaaaggcctggagattg	9	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50943287C>T	ENST00000374103.4	-	23	3105	c.3020G>A	c.(3019-3021)gGc>gAc	p.G1007D	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.G798D|OGDHL_ENST00000419399.1_Missense_Mutation_p.G950D	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	1007					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AAATGTCTTGCCCTCAAAGGC	0.572																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(3019-3021)gGc>gAc		oxoglutarate dehydrogenase-like							100	98	99					10																	50943287		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50943287C>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.3020G>A	10.37:g.50943287C>T	ENSP00000363216:p.Gly1007Asp		Somatic				OGDHL_ENST00000419399.1_Missense_Mutation_p.G950D|OGDHL_ENST00000432695.1_Missense_Mutation_p.G798D|OGDHL_ENST00000490844.1_5'UTR	p.G1007D	NM_018245.2	NP_060715.2	WXS	Illumina GAIIx	Phase_I	Q9ULD0	OGDHL_HUMAN			23	3105	-			1007					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.3020G>A	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597612	0.46318	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.05717	3.4;3.4;3.41	5.4	5.4	0.78164	.	0.062472	0.64402	D	0.000004	T	0.02727	0.0082	N	0.01352	-0.895	0.54753	D	0.999981	B;B;B	0.14012	0.009;0.005;0.002	B;B;B	0.17098	0.017;0.009;0.008	T	0.45687	-0.9244	10	0.06891	T	0.86	.	18.7651	0.91869	0.0:1.0:0.0:0.0	.	950;798;1007	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	D	1007;950;798	ENSP00000363216:G1007D;ENSP00000401356:G950D;ENSP00000390240:G798D	ENSP00000363216:G1007D	G	-	2	0	OGDHL	50613293	0.950000	0.32346	1.000000	0.80357	0.979000	0.70002	1.662000	0.37418	2.515000	0.84797	0.655000	0.94253	GGC		0.572	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		49	70	0	0	0	1	0	49	70					T	50943287	C	T	50943287	3	4	48	1	0	0	0	0	1	0	0	0	10849	739	26	3	16	3	OGDHL	10	50943287	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	122909	50943287	84591460	2451	6919										
OGDHL	55753	broad.mit.edu	37	chr10	50952051	50952051	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caacctcaccagtgtggatcTtaaagtcctccaggggcaca	9	13	2	0	rs200144529		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50952051T>C	ENST00000374103.4	-	14	1935	c.1850A>G	c.(1849-1851)aAg>aGg	p.K617R	OGDHL_ENST00000432695.1_Missense_Mutation_p.K408R|OGDHL_ENST00000419399.1_Missense_Mutation_p.K560R	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	617					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGTGTGGATCTTAAAGTCCTC	0.617																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1849-1851)aAg>aGg		oxoglutarate dehydrogenase-like							83	74	77					10																	50952051		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50952051T>C	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1850A>G	10.37:g.50952051T>C	ENSP00000363216:p.Lys617Arg		Somatic				OGDHL_ENST00000419399.1_Missense_Mutation_p.K560R|OGDHL_ENST00000432695.1_Missense_Mutation_p.K408R	p.K617R	NM_018245.2	NP_060715.2	WXS	Illumina GAIIx	Phase_I	Q9ULD0	OGDHL_HUMAN			14	1935	-			617					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1850A>G	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145677	0.37923	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.06068	3.35;3.35;3.36	5.61	0.304	0.15796	.	0.338573	0.34110	N	0.004247	T	0.03739	0.0106	L	0.31926	0.97	0.37582	D	0.91986	B;B;B	0.12013	0.005;0.001;0.0	B;B;B	0.15870	0.014;0.008;0.002	T	0.43475	-0.9389	10	0.20519	T	0.43	.	2.5389	0.04721	0.117:0.1371:0.1371:0.6089	.	560;408;617	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	R	617;560;408	ENSP00000363216:K617R;ENSP00000401356:K560R;ENSP00000390240:K408R	ENSP00000363216:K617R	K	-	2	0	OGDHL	50622057	0.821000	0.29204	0.989000	0.46669	0.943000	0.58893	0.083000	0.14871	0.152000	0.19188	-0.256000	0.11100	AAG		0.617	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		16	29	0	0	0	1	0	16	29					C	50952051	T	C	50952051	3	2	48	1	0	0	0	0	1	0	0	0	10849	1609	56	4	1222	4	OGDHL	10	50952051	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	8764	50952051	84582696	2452	6920										
SGMS1	259230	broad.mit.edu	37	chr10	52066985	52066985	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaaggccaatggtaagatcGaggtacaattccttggacat	11	7	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:52066985G>A	ENST00000361781.2	-	11	2118	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	SGMS1_ENST00000429490.1_Nonsense_Mutation_p.R218*	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	393					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.R387*(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGGTAAGATCGAGGTACAATT	0.493																																						ENST00000361781.2																			1	Substitution - Nonsense(1)	p.R387*(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1159-1161)Cga>Tga		sphingomyelin synthase 1							123	107	112					10																	52066985		2203	4300	6503	SO:0001587	stop_gained	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.chr10:52066985G>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.1159C>T	10.37:g.52066985G>A	ENSP00000354829:p.Arg387*		Somatic				SGMS1_ENST00000429490.1_Nonsense_Mutation_p.R218*	p.R387*	NM_147156.3	NP_671512.1	WXS	Illumina GAIIx	Phase_I	Q86VZ5	SMS1_HUMAN			11	2118	-			393					Q68U43|Q6EKK0|Q75SP1	Nonsense_Mutation	SNP	ENST00000361781.2	37	c.1159C>T	CCDS7240.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427336	0.43122	.	.	ENSG00000198964	ENST00000412547;ENST00000361781;ENST00000429490	.	.	.	5.58	4.68	0.58851	.	0.065062	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-9.5426	8.6492	0.34025	0.1716:0.0:0.8284:0.0	.	.	.	.	X	187;387;218	.	ENSP00000354829:R387X	R	-	1	2	SGMS1	51736991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.287000	0.72671	1.494000	0.48533	0.655000	0.94253	CGA		0.493	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156		21	29	0	0	0	1	0	21	29					A	52066985	G	A	52066985	4	1	48	1	0	0	0	0	0	1	0	0	14229	1066	37	1	86	1	SGMS1	10	52066985	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1114934	52066985	83467762	2453	6921										
A1CF	29974	broad.mit.edu	37	chr10	52601750	52601750	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcatttcataaattttaccGatctgcaagtaatagaaata	4	7	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:52601750G>A	ENST00000373993.1	-	3	281	c.237C>T	c.(235-237)atC>atT	p.I79I	A1CF_ENST00000282641.2_Silent_p.I79I|A1CF_ENST00000373997.3_Silent_p.I79I|A1CF_ENST00000373995.3_Silent_p.I87I|A1CF_ENST00000395489.2_Silent_p.I72I|A1CF_ENST00000395495.1_Silent_p.I79I|A1CF_ENST00000374001.2_Silent_p.I79I			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	79	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						AAATTTTACCGATCTGCAAGT	0.318																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(214-216)atC>atT		APOBEC1 complementation factor							97	94	95					10																	52601750		2202	4299	6501	SO:0001819	synonymous_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52601750G>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.237C>T	10.37:g.52601750G>A			Somatic				A1CF_ENST00000373997.3_Silent_p.I79I|A1CF_ENST00000373993.1_Silent_p.I79I|A1CF_ENST00000373995.3_Silent_p.I87I|A1CF_ENST00000395495.1_Silent_p.I79I|A1CF_ENST00000282641.2_Silent_p.I79I|A1CF_ENST00000374001.1_Silent_p.I79I	p.I72I	NM_001198819.1	NP_001185748.1	WXS	Illumina GAIIx	Phase_I	Q9NQ94	A1CF_HUMAN			7	612	-			79			RRM 1.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	ENST00000373993.1	37	c.216C>T	CCDS7242.1																																																																																				0.318	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		8	18	0	0	0	1	0	8	18					A	52601750	G	A	52601750	2	1	48	1	0	0	0	0	0	0	0	1	2	1048	37	1		1	A1CF	10	52601750	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	534765	52601750	82932997	2454	6922										
DKK1	22943	broad.mit.edu	37	chr10	54076093	54076093	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcaaaatcatttccgaggaGaaattgaggaaaccatcact	7	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:54076093G>T	ENST00000373970.3	+	3	584	c.445G>T	c.(445-447)Gaa>Taa	p.E149*	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	149					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						TTTCCGAGGAGAAATTGAGGA	0.393																																						ENST00000373970.3																			0				kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						c.(445-447)Gaa>Taa		dickkopf WNT signaling pathway inhibitor 1							95	88	90					10																	54076093		2203	4300	6503	SO:0001587	stop_gained	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.chr10:54076093G>T		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.445G>T	10.37:g.54076093G>T	ENSP00000363081:p.Glu149*		Somatic				DKK1_ENST00000467359.1_3'UTR	p.E149*	NM_012242.2	NP_036374.1	WXS	Illumina GAIIx	Phase_I	O94907	DKK1_HUMAN			3	584	+			149					B2RC19	Nonsense_Mutation	SNP	ENST00000373970.3	37	c.445G>T	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445400	0.84101	.	.	ENSG00000107984	ENST00000373970	.	.	.	5.82	5.82	0.92795	.	0.250041	0.38326	N	0.001728	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-15.8052	12.523	0.56072	0.0:0.0:0.8335:0.1665	.	.	.	.	X	149	.	ENSP00000363081:E149X	E	+	1	0	DKK1	53746099	1.000000	0.71417	0.990000	0.47175	0.584000	0.36387	2.590000	0.46154	2.756000	0.94617	0.561000	0.74099	GAA		0.393	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			15	21	1	0	1.15088e-07	1	1.32965e-07	15	21					T	54076093	G	T	54076093	4	4	48	1	0	0	0	0	0	1	0	0	4546	943	33	2	455	2	DKK1	10	54076093	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1474343	54076093	81458654	2455	6923										
DKK1	22943	broad.mit.edu	37	chr10	54076160	54076160	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttggatgggtattccagaaGaaccaccttgtcttcaaaaa	8	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:54076160G>T	ENST00000373970.3	+	3	651	c.512G>T	c.(511-513)aGa>aTa	p.R171I	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	171					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						TATTCCAGAAGAACCACCTTG	0.373																																						ENST00000373970.3																			0				kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						c.(511-513)aGa>aTa		dickkopf WNT signaling pathway inhibitor 1							96	89	91					10																	54076160		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.chr10:54076160G>T		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.512G>T	10.37:g.54076160G>T	ENSP00000363081:p.Arg171Ile		Somatic				DKK1_ENST00000467359.1_3'UTR	p.R171I	NM_012242.2	NP_036374.1	WXS	Illumina GAIIx	Phase_I	O94907	DKK1_HUMAN			3	651	+			171					B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	c.512G>T	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763314	0.31228	.	.	ENSG00000107984	ENST00000373970	T	0.48522	0.81	5.82	5.82	0.92795	.	0.242826	0.44902	D	0.000410	T	0.63153	0.2487	L	0.52573	1.65	0.58432	D	0.999996	D	0.76494	0.999	D	0.66196	0.942	T	0.61758	-0.6997	10	0.54805	T	0.06	-0.967	17.5868	0.87983	0.0:0.0:1.0:0.0	.	171	O94907	DKK1_HUMAN	I	171	ENSP00000363081:R171I	ENSP00000363081:R171I	R	+	2	0	DKK1	53746166	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	3.505000	0.53356	2.756000	0.94617	0.561000	0.74099	AGA		0.373	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			4	47	1	0	1.23904e-05	1	1.36503e-05	4	47					T	54076160	G	T	54076160	3	4	48	1	0	0	0	0	1	0	0	0	4546	942	33	2	522	2	DKK1	10	54076160	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	67	54076160	81458587	2456	6924										
PCDH15	65217	broad.mit.edu	37	chr10	55569282	55569282	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctctaatttcaacctttgGttttttaattttctttggct	4	8	3	0	rs530412749		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:55569282G>T	ENST00000395438.1	-	36	4972	c.4578C>A	c.(4576-4578)aaC>aaA	p.N1526K	PCDH15_ENST00000395445.1_Missense_Mutation_p.P1510T|PCDH15_ENST00000395440.1_Missense_Mutation_p.P444T|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.P706T|PCDH15_ENST00000409834.1_Missense_Mutation_p.N1137K|PCDH15_ENST00000395442.1_Missense_Mutation_p.P375T|PCDH15_ENST00000414778.1_Intron	NM_001142770.1	NP_001136242.1	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)				TCAACCTTTGGTTTTTTAATT	0.413										HNSCC(58;0.16)																												ENST00000395438.1																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4576-4578)aaC>aaA		protocadherin-related 15							178	178	178					10																	55569282		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.chr10:55569282G>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	ENST00000395438.1:c.4578C>A	10.37:g.55569282G>T	ENSP00000378826:p.Asn1526Lys	HNSCC(58;0.16)	Somatic				PCDH15_ENST00000395442.1_Missense_Mutation_p.P375T|PCDH15_ENST00000395440.1_Missense_Mutation_p.P444T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1510T|PCDH15_ENST00000409834.1_Missense_Mutation_p.N1137K|PCDH15_ENST00000395446.1_Missense_Mutation_p.P706T|PCDH15_ENST00000373965.2_Intron	p.N1526K	NM_001142770.1	NP_001136242.1	WXS	Illumina GAIIx	Phase_I	Q96QU1	PCD15_HUMAN			36	4972	-		Melanoma(3;0.117)|Lung SC(717;0.238)	0					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395438.1	37	c.4578C>A	CCDS44400.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.72|18.72	3.684564|3.684564	0.68157|0.68157	.|.	.|.	ENSG00000150275|ENSG00000150275	ENST00000395438;ENST00000409834|ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T|T;T;T;T	0.56941|0.70399	0.45;0.43|-0.48;0.39;-0.41;0.38	5.88|5.88	4.92|4.92	0.64577|0.64577	.|.	.|.	.|.	.|.	.|.	T|T	0.48333|0.48333	0.1494|0.1494	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|B;B	0.17038|0.29716	0.02|0.255;0.255	B|B;B	0.11329|0.26614	0.006|0.071;0.071	T|T	0.46652|0.46652	-0.9176|-0.9176	9|9	0.87932|0.23891	D|T	0|0.37	.|.	12.2707|12.2707	0.54704|0.54704	0.0:0.1275:0.7408:0.1317|0.0:0.1275:0.7408:0.1317	.|.	1526|1508;1510	A2A3E3|C6ZEF5;A2A3E2	.|.;.	K|T	1526;1137|1510;706;375;444	ENSP00000378826:N1526K;ENSP00000386693:N1137K|ENSP00000378832:P1510T;ENSP00000378833:P706T;ENSP00000378829:P375T;ENSP00000378827:P444T	ENSP00000378826:N1526K|ENSP00000378827:P444T	N|P	-|-	3|1	2|0	PCDH15|PCDH15	55239288|55239288	0.976000|0.976000	0.34144|0.34144	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	1.589000|1.589000	0.36644|0.36644	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	AAC|CCA		0.413	PCDH15-017	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291344.1	NM_033056		14	150	1	0	6.72482e-11	1	8.31618e-11	14	150					T	55569282	G	T	55569282	3	4	48	1	0	0	0	0	1	0	0	0	11520	1261	44	5	1388	5	PCDH15	10	55569282	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1493122	55569282	79965465	2457	6925										
PCDH15	65217	broad.mit.edu	37	chr10	55626542	55626542	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtttccactacaaatccttCttttccctctttaattggtg	4	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:55626542C>A	ENST00000320301.6	-	27	3971	c.3577G>T	c.(3577-3579)Gaa>Taa	p.E1193*	PCDH15_ENST00000395445.1_Nonsense_Mutation_p.E1200*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.E1122*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.E1200*|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.E804*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.E1171*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.E1156*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E1198*|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1193	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACAAATCCTTCTTTTCCCTCT	0.378										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.(3598-3600)Gaa>Taa		protocadherin-related 15							163	147	152					10																	55626542		2203	4300	6503	SO:0001587	stop_gained	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.chr10:55626542C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3577G>T	10.37:g.55626542C>A	ENSP00000322604:p.Glu1193*	HNSCC(58;0.16)	Somatic				PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E1198*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.E1200*|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.E804*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.E1122*|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.E1171*|PCDH15_ENST00000320301.6_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.E1156*	p.E1200*	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	WXS	Illumina GAIIx	Phase_I	Q96QU1	PCD15_HUMAN			28	3992	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1193			Cadherin 11.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000320301.6	37	c.3598G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	46	12.478088	0.99671	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	.	.	.	5.81	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.3884	0.66961	0.0:0.9285:0.0:0.0715	.	.	.	.	X	1200;1198;1193;1193;804;1200;1156;1193;1171;1193;1193;1198;1122	.	ENSP00000322604:E1193X	E	-	1	0	PCDH15	55296548	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.763000	0.68818	1.462000	0.47948	0.655000	0.94253	GAA		0.378	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		25	29	1	0	4.26978e-12	1	5.35675e-12	25	29					A	55626542	C	A	55626542	4	1	48	1	0	0	0	0	0	1	0	0	11520	922	32	2	3937	2	PCDH15	10	55626542	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	57260	55626542	79908205	2458	6926										
PCDH15	65217	broad.mit.edu	37	chr10	55944895	55944895	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttacacaaaagctctttaccGaaaaggtgtaagtttgctgt	8	7	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:55944895G>A	ENST00000320301.6	-	12	1833	c.1439C>T	c.(1438-1440)tCg>tTg	p.S480L	PCDH15_ENST00000395445.1_Splice_Site_p.S487L|PCDH15_ENST00000437009.1_Splice_Site_p.S480L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Splice_Site_p.S487L|PCDH15_ENST00000395446.1_Splice_Site_p.S480L|PCDH15_ENST00000409834.1_Splice_Site_p.S91L|PCDH15_ENST00000361849.3_Splice_Site_p.S480L|PCDH15_ENST00000373955.1_Splice_Site_p.S480L|PCDH15_ENST00000395433.1_Splice_Site_p.S458L|PCDH15_ENST00000395430.1_Splice_Site_p.S480L|PCDH15_ENST00000395438.1_Splice_Site_p.S480L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Splice_Site_p.S443L|PCDH15_ENST00000414778.1_Splice_Site_p.S485L|PCDH15_ENST00000373957.3_Splice_Site_p.S458L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	480	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.S485L(1)|p.S480L(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTCTTTACCGAAAAGGTGTA	0.383										HNSCC(58;0.16)																												ENST00000373965.2																			2	Substitution - Missense(2)	p.S485L(1)|p.S480L(1)	large_intestine(2)	NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.e13+1		protocadherin-related 15							144	120	128					10																	55944895		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.chr10:55944895G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1440+1C>T	10.37:g.55944895G>A		HNSCC(58;0.16)	Somatic				PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Splice_Site_p.S485_splice|PCDH15_ENST00000361849.3_Splice_Site_p.S480_splice|PCDH15_ENST00000395430.1_Splice_Site_p.S480_splice|PCDH15_ENST00000373955.1_Splice_Site_p.S480_splice|PCDH15_ENST00000395445.1_Splice_Site_p.S487_splice|PCDH15_ENST00000409834.1_Splice_Site_p.S91_splice|PCDH15_ENST00000437009.1_Splice_Site_p.S480_splice|PCDH15_ENST00000373957.3_Splice_Site_p.S458_splice|PCDH15_ENST00000395446.1_Splice_Site_p.S480_splice|PCDH15_ENST00000395438.1_Splice_Site_p.S480_splice|PCDH15_ENST00000395433.1_Splice_Site_p.S458_splice|PCDH15_ENST00000320301.6_Splice_Site_p.S480_splice|PCDH15_ENST00000395432.2_Splice_Site_p.S443_splice	p.S487_splice	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	WXS	Illumina GAIIx	Phase_I	Q96QU1	PCD15_HUMAN			13	1854	-		Melanoma(3;0.117)|Lung SC(717;0.238)	480			Cadherin 4.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Splice_Site	SNP	ENST00000320301.6	37	c.1461_splice	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691913	0.48097	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59906	0.23;0.64;0.64;0.36;0.23;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.1	4.18	0.49190	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.48205	0.1487	L	0.51422	1.61	0.38393	D	0.945465	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.29188	0.102;0.048;0.021;0.048;0.236;0.102;0.102;0.003;0.01;0.01;0.013;0.003;0.001;0.006;0.102	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.20955	0.032;0.021;0.006;0.014;0.021;0.021;0.032;0.005;0.005;0.005;0.008;0.005;0.003;0.014;0.021	T	0.48422	-0.9037	9	0.30078	T	0.28	.	12.0153	0.53311	0.0879:0.0:0.9121:0.0	.	458;480;480;485;480;443;480;480;487;487;480;485;480;458;480	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	487;485;480;480;91;487;480;443;480;458;458;480;480;485;480;480	ENSP00000363076:S487L;ENSP00000410304:S485L;ENSP00000378826:S480L;ENSP00000386693:S91L;ENSP00000378832:S487L;ENSP00000378833:S480L;ENSP00000378820:S443L;ENSP00000354950:S480L;ENSP00000378821:S458L;ENSP00000363068:S458L;ENSP00000322604:S480L;ENSP00000378818:S480L;ENSP00000412628:S480L;ENSP00000363066:S480L	ENSP00000322604:S480L	S	-	2	0	PCDH15	55614901	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	4.228000	0.58619	1.275000	0.44379	0.586000	0.80456	TCG		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	Missense_Mutation	12	37	0	0	0	1	0	12	37					A	55944895	G	A	55944895	5	1	48	1	0	0	0	0	0	0	1	0	11520	1072	37	1	6135	1	PCDH15	10	55944895	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	318353	55944895	79589852	2459	6927										
PCDH15	65217	broad.mit.edu	37	chr10	55955448	55955448	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtatttaacttacatcttCtatgtccttgtccagagcta	5	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:55955448C>A	ENST00000320301.6	-	11	1694	c.1300G>T	c.(1300-1302)Gaa>Taa	p.E434*	PCDH15_ENST00000395445.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395440.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395446.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.E38*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.E434*|PCDH15_ENST00000373955.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.E412*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.E397*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E439*|PCDH15_ENST00000373957.3_Nonsense_Mutation_p.E412*	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	434	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTACATCTTCTATGTCCTTG	0.373										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.(1300-1302)Gaa>Taa		protocadherin-related 15							89	84	85					10																	55955448		2203	4300	6503	SO:0001587	stop_gained	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.chr10:55955448C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1300G>T	10.37:g.55955448C>A	ENSP00000322604:p.Glu434*	HNSCC(58;0.16)	Somatic				PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E439*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000373955.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.E38*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000373957.3_Nonsense_Mutation_p.E412*|PCDH15_ENST00000395446.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.E412*|PCDH15_ENST00000320301.6_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.E397*	p.E434*	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	WXS	Illumina GAIIx	Phase_I	Q96QU1	PCD15_HUMAN			11	1694	-		Melanoma(3;0.117)|Lung SC(717;0.238)	434			Cadherin 4.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000320301.6	37	c.1300G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	42	9.533812	0.99198	.	.	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	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	18.0383	0.89312	0.0:1.0:0.0:0.0	.	.	.	.	X	434;439;434;434;38;434;434;434;397;434;412;412;434;434;439;434;434	.	ENSP00000322604:E434X	E	-	1	0	PCDH15	55625454	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.060000	0.71141	2.368000	0.80403	0.591000	0.81541	GAA		0.373	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		9	39	1	0	7.48243e-07	1	8.49459e-07	9	39					A	55955448	C	A	55955448	4	1	48	1	0	0	0	0	0	1	0	0	11520	922	32	2	6303	2	PCDH15	10	55955448	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	10553	55955448	79579299	2460	6928										
IPMK	253430	broad.mit.edu	37	chr10	59955838	59955838	+	Nonstop_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaagactgcaacagaggattCaattgtctaaaatacttcga	7	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:59955838C>A	ENST00000373935.3	-	6	1572	c.1250G>T	c.(1249-1251)tGa>tTa	p.*417L		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	0					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						ACAGAGGATTCAATTGTCTAA	0.353																																						ENST00000373935.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						c.(1249-1251)tGa>tTa		inositol polyphosphate multikinase							56	60	59					10																	59955838		2202	4296	6498	SO:0001578	stop_lost	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59955838C>A	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.1250G>T	10.37:g.59955838C>A			Somatic					p.*417L	NM_152230.4	NP_689416.1	WXS	Illumina GAIIx	Phase_I	Q8NFU5	IPMK_HUMAN			6	1572	-			0						Nonstop_Mutation	SNP	ENST00000373935.3	37	c.1250G>T	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	C	9.381	1.073102	0.20147	.	.	ENSG00000151151	ENST00000373935	.	.	.	6.07	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9652	0.19320	0.0:0.7513:0.0:0.2487	.	.	.	.	L	417	.	.	X	-	2	2	IPMK	59625844	1.000000	0.71417	0.990000	0.47175	0.668000	0.39293	1.552000	0.36244	1.588000	0.49971	0.585000	0.79938	TGA		0.353	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		24	55	1	0	2.79863e-10	1	3.42475e-10	24	55					A	59955838	C	A	59955838	4	1	48	1	0	0	0	0	0	0	0	0	7801	837	29	2	4	2	IPMK	10	59955838	Nonstop_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4000390	59955838	75578909	2461	6929										
PHYHIPL	84457	broad.mit.edu	37	chr10	61004994	61004994	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttgagattgccgcagaaaaActttttaaccccaatactaa	5	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:61004994A>G	ENST00000373880.4	+	5	1038	c.774A>G	c.(772-774)aaA>aaG	p.K258K	PHYHIPL_ENST00000373878.3_Silent_p.K232K	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	258						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						CCGCAGAAAAACTTTTTAACC	0.413																																						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.(772-774)aaA>aaG		phytanoyl-CoA 2-hydroxylase interacting protein-like							99	100	99					10																	61004994		2203	4300	6503	SO:0001819	synonymous_variant	84457							g.chr10:61004994A>G	AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"Fibronectin type III domain containing"	29378	protein-coding gene	gene with protein product			"phytanoyl-CoA hydroxylase interacting protein-like"			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.774A>G	10.37:g.61004994A>G			Somatic				PHYHIPL_ENST00000373878.3_Silent_p.K232K	p.K258K	NM_032439.3	NP_115815.2	WXS	Illumina GAIIx	Phase_I	Q96FC7	PHIPL_HUMAN			5	1038	+			258					B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Silent	SNP	ENST00000373880.4	37	c.774A>G	CCDS7254.1																																																																																				0.413	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1	NM_032439		5	48	0	0	0	1	0	5	48					G	61004994	A	G	61004994	2	3	48	1	0	0	0	0	0	0	0	1	11876	40	2	4		4	PHYHIPL	10	61004994	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1049156	61004994	74529753	2462	6930										
ANK3	288	broad.mit.edu	37	chr10	61834982	61834982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atggtgtagacaacttaaggGcagagggtgcaaggaacaaa	14	5	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:61834982G>A	ENST00000280772.2	-	37	5848	c.5657C>T	c.(5656-5658)gCc>gTc	p.A1886V	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)	1886	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAACTTAAGGGCAGAGGGTGC	0.433																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(5656-5658)gCc>gTc		ankyrin 3, node of Ranvier (ankyrin G)							160	137	145					10																	61834982		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61834982G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5657C>T	10.37:g.61834982G>A	ENSP00000280772:p.Ala1886Val		Somatic				ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.A1886V	NM_020987.3	NP_066267.2	WXS	Illumina GAIIx	Phase_I	Q12955	ANK3_HUMAN			37	5848	-			1886			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.5657C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.826997	0.50739	.	.	ENSG00000151150	ENST00000280772	T	0.64618	-0.11	5.46	5.46	0.80206	.	0.000000	0.41938	D	0.000796	T	0.47820	0.1466	N	0.20685	0.6	0.80722	D	1	B	0.24963	0.115	B	0.25614	0.062	T	0.44034	-0.9354	10	0.08381	T	0.77	.	19.2951	0.94118	0.0:0.0:1.0:0.0	.	1886	Q12955	ANK3_HUMAN	V	1886	ENSP00000280772:A1886V	ENSP00000280772:A1886V	A	-	2	0	ANK3	61504988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.979000	0.70508	2.574000	0.86865	0.561000	0.74099	GCC		0.433	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		26	58	0	0	0	1	0	26	58					A	61834982	G	A	61834982	3	1	48	1	0	0	0	0	1	0	0	0	622	1203	42	3	7817	3	ANK3	10	61834982	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	829988	61834982	73699765	2463	6931										
ANK3	288	broad.mit.edu	37	chr10	61835651	61835651	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcggtgctgctgatgtaataAttgacttaaatggcaaactt	10	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:61835651A>C	ENST00000280772.2	-	37	5179	c.4988T>G	c.(4987-4989)aTt>aGt	p.I1663S	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)	1663	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGATGTAATAATTGACTTAAA	0.398																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(4987-4989)aTt>aGt		ankyrin 3, node of Ranvier (ankyrin G)							105	101	103					10																	61835651		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835651A>C	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.4988T>G	10.37:g.61835651A>C	ENSP00000280772:p.Ile1663Ser		Somatic				ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.I1663S	NM_020987.3	NP_066267.2	WXS	Illumina GAIIx	Phase_I	Q12955	ANK3_HUMAN			37	5179	-			1663			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.4988T>G	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407269	0.42715	.	.	ENSG00000151150	ENST00000280772	T	0.67345	-0.26	5.82	4.66	0.58398	.	0.000000	0.42548	D	0.000684	T	0.57184	0.2036	L	0.47716	1.5	0.80722	D	1	B	0.31680	0.335	B	0.22386	0.039	T	0.58042	-0.7706	10	0.72032	D	0.01	.	12.1522	0.54055	0.8716:0.0:0.0:0.1284	.	1663	Q12955	ANK3_HUMAN	S	1663	ENSP00000280772:I1663S	ENSP00000280772:I1663S	I	-	2	0	ANK3	61505657	1.000000	0.71417	0.494000	0.27515	0.994000	0.84299	4.702000	0.61817	0.996000	0.38943	0.383000	0.25322	ATT		0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		24	53	0	0	0	1	0	24	53					C	61835651	A	C	61835651	3	2	48	1	0	0	0	0	1	0	0	0	622	101	4	4	8486	4	ANK3	10	61835651	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	669	61835651	73699096	2464	6932										
RHOBTB1	9886	broad.mit.edu	37	chr10	62670691	62670691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgatgatcaccaaaagtatCccaaagcctgagagaaacac	8	10	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:62670691C>T	ENST00000337910.5	-	4	587	c.250G>A	c.(250-252)Gat>Aat	p.D84N	RNU2-72P_ENST00000411175.1_RNA|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D84N	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	84	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CCAAAAGTATCCCAAAGCCTG	0.463																																						ENST00000337910.5																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(250-252)Gat>Aat		Rho-related BTB domain containing 1							158	125	136					10																	62670691		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62670691C>T	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"BTB/POZ domain containing"	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.250G>A	10.37:g.62670691C>T	ENSP00000338671:p.Asp84Asn		Somatic				RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D84N	p.D84N	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	WXS	Illumina GAIIx	Phase_I	O94844	RHBT1_HUMAN			4	587	-	Prostate(12;0.0112)		84			Rho-like.			Missense_Mutation	SNP	ENST00000337910.5	37	c.250G>A	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	C	36	5.827804	0.96996	.	.	ENSG00000072422	ENST00000357917;ENST00000337910;ENST00000536302	D;D	0.90261	-2.64;-2.64	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.96965	0.9009	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97544	1.0088	10	0.87932	D	0	.	19.857	0.96762	0.0:1.0:0.0:0.0	.	84	O94844	RHBT1_HUMAN	N	84	ENSP00000350595:D84N;ENSP00000338671:D84N	ENSP00000338671:D84N	D	-	1	0	RHOBTB1	62340697	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.724000	0.84798	2.693000	0.91896	0.555000	0.69702	GAT		0.463	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			20	27	0	0	0	1	0	20	27					T	62670691	C	T	62670691	3	4	48	1	0	0	0	0	1	0	0	0	13348	855	30	3	1872	3	RHOBTB1	10	62670691	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	835040	62670691	72864056	2465	6933										
RTKN2	219790	broad.mit.edu	37	chr10	63957810	63957810	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctatttctcctggcaggcaGaagttttcgaggagcagcca	11	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:63957810G>A	ENST00000373789.3	-	12	1783	c.1687C>T	c.(1687-1689)Ctg>Ttg	p.L563L	RTKN2_ENST00000395265.1_Intron|RTKN2_ENST00000315289.2_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	563					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CTGGCAGGCAGAAGTTTTCGA	0.438																																						ENST00000373789.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1687-1689)Ctg>Ttg		rhotekin 2							165	148	154					10																	63957810		2203	4300	6503	SO:0001819	synonymous_variant	219790				signal transduction	intracellular		g.chr10:63957810G>A	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1687C>T	10.37:g.63957810G>A			Somatic				RTKN2_ENST00000395265.1_Intron|RTKN2_ENST00000315289.2_Intron	p.L563L	NM_145307.2	NP_660350.2	WXS	Illumina GAIIx	Phase_I	Q8IZC4	RTKN2_HUMAN			12	1783	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		563					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	ENST00000373789.3	37	c.1687C>T	CCDS7263.1																																																																																				0.438	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		22	52	0	0	0	1	0	22	52					A	63957810	G	A	63957810	2	1	48	1	0	0	0	0	0	0	0	1	13738	933	33	3		3	RTKN2	10	63957810	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1287119	63957810	71576937	2466	6934										
RTKN2	219790	broad.mit.edu	37	chr10	64022496	64022496	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aactgcatgtaaaacttgatCtttctgagtgctcagagaaa	8	7	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:64022496C>T	ENST00000373789.3	-	2	241	c.145G>A	c.(145-147)Gat>Aat	p.D49N	RTKN2_ENST00000395265.1_Missense_Mutation_p.D49N|RTKN2_ENST00000395260.3_Missense_Mutation_p.D49N	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	49					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.D49Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AAAACTTGATCTTTCTGAGTG	0.363																																						ENST00000373789.3																			1	Substitution - Missense(1)	p.D49Y(1)	large_intestine(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(145-147)Gat>Aat		rhotekin 2							140	120	127					10																	64022496		2203	4300	6503	SO:0001583	missense	219790				signal transduction	intracellular		g.chr10:64022496C>T	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.145G>A	10.37:g.64022496C>T	ENSP00000362894:p.Asp49Asn		Somatic				RTKN2_ENST00000395265.1_Missense_Mutation_p.D49N|RTKN2_ENST00000395260.3_Missense_Mutation_p.D49N	p.D49N	NM_145307.2	NP_660350.2	WXS	Illumina GAIIx	Phase_I	Q8IZC4	RTKN2_HUMAN			2	241	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		49					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	c.145G>A	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630683	0.87660	.	.	ENSG00000182010	ENST00000395265;ENST00000373789;ENST00000395260	T;T;T	0.33216	1.45;1.42;1.55	5.52	5.52	0.82312	.	0.093551	0.64402	D	0.000001	T	0.44477	0.1295	M	0.63843	1.955	0.46981	D	0.999274	P;P	0.45902	0.868;0.792	P;B	0.49226	0.603;0.326	T	0.17289	-1.0374	10	0.39692	T	0.17	4.4114	19.3863	0.94557	0.0:1.0:0.0:0.0	.	49;49	Q8IZC4-3;Q8IZC4	.;RTKN2_HUMAN	N	49	ENSP00000378682:D49N;ENSP00000362894:D49N;ENSP00000378678:D49N	ENSP00000362894:D49N	D	-	1	0	RTKN2	63692502	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.151000	0.64875	2.739000	0.93911	0.655000	0.94253	GAT		0.363	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		12	34	0	0	0	1	0	12	34					T	64022496	C	T	64022496	3	4	48	1	0	0	0	0	1	0	0	0	13738	913	32	3	1728	3	RTKN2	10	64022496	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	64686	64022496	71512251	2467	6935										
ZNF365	22891	broad.mit.edu	37	chr10	64136203	64136203	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaactcctgaaaccgggaaAattgcagagcagtggcaacg	12	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:64136203A>C	ENST00000395254.3	+	2	531	c.251A>C	c.(250-252)aAa>aCa	p.K84T	ZNF365_ENST00000410046.3_Missense_Mutation_p.K84T|ZNF365_ENST00000395255.3_Missense_Mutation_p.K84T|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)					AAACCGGGAAAATTGCAGAGC	0.458																																						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.(250-252)aAa>aCa		zinc finger protein 365							98	95	96					10																	64136203		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64136203A>C	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.251A>C	10.37:g.64136203A>C	ENSP00000378674:p.Lys84Thr		Somatic				ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000395255.3_Missense_Mutation_p.K84T|ZNF365_ENST00000410046.3_Missense_Mutation_p.K84T	p.K84T	NM_014951.2	NP_055766.2	WXS	Illumina GAIIx	Phase_I	Q70YC4	TALAN_HUMAN			2	531	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		49						Missense_Mutation	SNP	ENST00000395254.3	37	c.251A>C	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.022706	0.35701	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	T;T;T	0.33865	1.39;1.39;1.39	5.61	5.61	0.85477	.	.	.	.	.	T	0.43897	0.1268	M	0.66939	2.045	0.21256	N	0.999748	D;B;P;P	0.56035	0.974;0.078;0.873;0.873	P;B;P;P	0.51415	0.669;0.053;0.466;0.466	T	0.44221	-0.9342	9	0.34782	T	0.22	-10.7103	6.518	0.22258	0.784:0.0:0.0759:0.1402	.	84;84;84;99	Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4	.;.;ZN365_HUMAN;.	T	84	ENSP00000378674:K84T;ENSP00000378675:K84T;ENSP00000387091:K84T	ENSP00000378674:K84T	K	+	2	0	ZNF365	63806209	0.022000	0.18835	0.789000	0.31954	0.494000	0.33585	1.405000	0.34635	2.138000	0.66242	0.454000	0.30748	AAA		0.458	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		37	60	0	0	0	1	0	37	60					C	64136203	A	C	64136203	3	2	48	1	0	0	0	0	1	0	0	0	17884	14	1	4	253	4	ZNF365	10	64136203	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	113707	64136203	71398544	2468	6936										
JMJD1C	221037	broad.mit.edu	37	chr10	64966708	64966708	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcttaataatttctgatacaGaattccctgaattttccatt	4	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:64966708G>T	ENST00000399262.2	-	10	4939	c.4721C>A	c.(4720-4722)tCt>tAt	p.S1574Y	JMJD1C_ENST00000399251.1_Missense_Mutation_p.S1355Y|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S1392Y|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S1355Y	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1574					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)					TTCTGATACAGAATTCCCTGA	0.318																																						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.(4720-4722)tCt>tAt		jumonji domain containing 1C							78	72	73					10																	64966708		1806	4075	5881	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.chr10:64966708G>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4721C>A	10.37:g.64966708G>T	ENSP00000382204:p.Ser1574Tyr		Somatic				JMJD1C_ENST00000402544.1_Missense_Mutation_p.S1355Y|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S1392Y|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S1355Y	p.S1574Y	NM_032776.1	NP_116165.1	WXS	Illumina GAIIx	Phase_I	Q15652	JHD2C_HUMAN			10	4939	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1574					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.4721C>A	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.71|13.71	2.319687|2.319687	0.41096|0.41096	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000327520|ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.|T;T;T;T	.|0.56444	.|0.81;0.46;2.33;0.81	5.45|5.45	3.45|3.45	0.39498|0.39498	.|.	.|0.427699	.|0.26715	.|N	.|0.022867	T|T	0.56688|0.56688	0.2002|0.2002	L|L	0.47716|0.47716	1.5|1.5	0.35483|0.35483	D|D	0.798347|0.798347	.|P;P;P	.|0.50710	.|0.938;0.938;0.938	.|P;P;P	.|0.50617	.|0.646;0.646;0.646	T|T	0.71481|0.71481	-0.4580|-0.4580	5|10	.|0.66056	.|D	.|0.02	-6.6675|-6.6675	16.0081|16.0081	0.80377|0.80377	0.0:0.3646:0.6354:0.0|0.0:0.3646:0.6354:0.0	.|.	.|1115;1574;1392	.|A6PW35;Q15652;A0T124	.|.;JHD2C_HUMAN;.	M|Y	260|1574;1355;1355;1392	.|ENSP00000382204:S1574Y;ENSP00000384990:S1355Y;ENSP00000382195:S1355Y;ENSP00000444682:S1392Y	.|ENSP00000382195:S1355Y	L|S	-|-	1|2	2|0	JMJD1C|JMJD1C	64636714|64636714	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.514000|2.514000	0.45503|0.45503	1.412000|1.412000	0.46977|0.46977	0.591000|0.591000	0.81541|0.81541	CTG|TCT		0.318	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		14	38	1	0	7.93312e-07	1	8.98086e-07	14	38					T	64966708	G	T	64966708	3	4	48	1	0	0	0	0	1	0	0	0	7959	942	33	2	2969	2	JMJD1C	10	64966708	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	830505	64966708	70568039	2469	6937										
LRRTM3	347731	broad.mit.edu	37	chr10	68687299	68687299	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggcatgatcagactcaaaGaacttcacctggagcacaat	8	11	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:68687299G>T	ENST00000361320.4	+	2	1203	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	209					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						CAGACTCAAAGAACTTCACCT	0.453																																						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.(625-627)Gaa>Taa		leucine rich repeat transmembrane neuronal 3							100	102	101					10																	68687299		2203	4300	6503	SO:0001587	stop_gained	347731					integral to membrane		g.chr10:68687299G>T	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.625G>T	10.37:g.68687299G>T	ENSP00000355187:p.Glu209*		Somatic				CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	p.E209*	NM_178011.3	NP_821079.3	WXS	Illumina GAIIx	Phase_I	Q86VH5	LRRT3_HUMAN			2	1203	+			209					A8K2A3|Q2NKX7|Q6N0A3	Nonsense_Mutation	SNP	ENST00000361320.4	37	c.625G>T	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	42	9.384686	0.99155	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	.	.	.	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	17.9918	0.89171	0.0:0.0:1.0:0.0	.	.	.	.	X	209	.	ENSP00000355187:E209X	E	+	1	0	LRRTM3	68357305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.538000	0.85594	0.650000	0.86243	GAA		0.453	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		33	63	1	0	3.11337e-16	1	4.1367e-16	33	63					T	68687299	G	T	68687299	4	4	48	1	0	0	0	0	0	1	0	0	9050	943	33	2	631	2	LRRTM3	10	68687299	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3720591	68687299	66847448	2470	6938										
SIRT1	23411	broad.mit.edu	37	chr10	69672420	69672420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aattactgaaaaacctccacGaacacaaaaagaattggctt	5	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:69672420G>A	ENST00000212015.6	+	8	1600	c.1547G>A	c.(1546-1548)cGa>cAa	p.R516Q	SIRT1_ENST00000432464.1_Missense_Mutation_p.R221Q|SIRT1_ENST00000406900.1_Missense_Mutation_p.R213Q|SIRT1_ENST00000403579.1_Missense_Mutation_p.R213Q	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	516	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)	p.R516Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AAACCTCCACGAACACAAAAA	0.388																																						ENST00000212015.6																			1	Substitution - Missense(1)	p.R516Q(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						c.(1546-1548)cGa>cAa		sirtuin 1							75	75	75					10																	69672420		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.chr10:69672420G>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.1547G>A	10.37:g.69672420G>A	ENSP00000212015:p.Arg516Gln		Somatic				SIRT1_ENST00000406900.1_Missense_Mutation_p.R213Q|SIRT1_ENST00000403579.1_Missense_Mutation_p.R213Q|SIRT1_ENST00000432464.1_Missense_Mutation_p.R221Q	p.R516Q	NM_012238.4	NP_036370.2	WXS	Illumina GAIIx	Phase_I	Q96EB6	SIRT1_HUMAN			8	1600	+			516					Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	c.1547G>A	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	G	35	5.448975	0.96205	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.27402	2.16;1.7;1.67;1.67	5.68	5.68	0.88126	.	0.305199	0.28521	N	0.015055	T	0.38931	0.1059	L	0.37697	1.125	0.80722	D	1	D;D	0.67145	0.988;0.996	P;P	0.52957	0.629;0.714	T	0.02345	-1.1173	10	0.32370	T	0.25	-7.8462	19.4062	0.94648	0.0:0.0:1.0:0.0	.	213;516	B0QZ35;Q96EB6	.;SIRT1_HUMAN	Q	516;221;213;213	ENSP00000212015:R516Q;ENSP00000409208:R221Q;ENSP00000384508:R213Q;ENSP00000384063:R213Q	ENSP00000212015:R516Q	R	+	2	0	SIRT1	69342426	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.187000	0.94912	2.695000	0.91970	0.650000	0.86243	CGA		0.388	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			25	48	0	0	0	1	0	25	48					A	69672420	G	A	69672420	3	1	48	1	0	0	0	0	1	0	0	0	14352	1058	37	1	1577	1	SIRT1	10	69672420	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	985121	69672420	65862327	2471	6939										
MYPN	84665	broad.mit.edu	37	chr10	69881929	69881929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagcaggctgccagtgaggCggctggtggagacactacac	17	10	0	2	rs143574079	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:69881929C>T	ENST00000358913.5	+	2	1222	c.734C>T	c.(733-735)gCg>gTg	p.A245V	MYPN_ENST00000373675.3_Missense_Mutation_p.A245V|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.A245V	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	245	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						GCCAGTGAGGCGGCTGGTGGA	0.567																																						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.(733-735)gCg>gTg		myopalladin							46	46	46					10																	69881929		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69881929C>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.734C>T	10.37:g.69881929C>T	ENSP00000351790:p.Ala245Val		Somatic				MYPN_ENST00000373675.3_Missense_Mutation_p.A245V|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.A245V	p.A245V	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	WXS	Illumina GAIIx	Phase_I	Q86TC9	MYPN_HUMAN			2	1222	+			245			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.734C>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308148	0.23821	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.61510	0.43;0.41;0.1	5.74	2.81	0.32909	.	0.565017	0.19338	N	0.116739	T	0.27697	0.0681	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.004	B;B	0.09377	0.004;0.001	T	0.05338	-1.0891	9	.	.	.	.	1.6794	0.02829	0.1877:0.4638:0.1839:0.1647	.	245;245	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	V	245	ENSP00000351790:A245V;ENSP00000441668:A245V;ENSP00000362779:A245V	.	A	+	2	0	MYPN	69551935	0.409000	0.25368	0.444000	0.26895	0.969000	0.65631	1.341000	0.33907	1.366000	0.46076	0.655000	0.94253	GCG		0.567	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		19	38	0	0	0	1	0	19	38					T	69881929	C	T	69881929	3	4	48	1	0	0	0	0	1	0	0	0	10107	768	27	1	736	1	MYPN	10	69881929	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	209509	69881929	65652818	2472	6940										
MYPN	84665	broad.mit.edu	37	chr10	69935124	69935124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaatacaaagtctcctcaacCagtgaatgatgataacattc	5	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:69935124C>T	ENST00000358913.5	+	12	3097	c.2609C>T	c.(2608-2610)cCa>cTa	p.P870L	MYPN_ENST00000354393.2_Missense_Mutation_p.P595L|MYPN_ENST00000540630.1_Missense_Mutation_p.P870L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	870					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						TCTCCTCAACCAGTGAATGAT	0.423																																						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.(2608-2610)cCa>cTa		myopalladin							101	95	97					10																	69935124		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69935124C>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2609C>T	10.37:g.69935124C>T	ENSP00000351790:p.Pro870Leu		Somatic				MYPN_ENST00000354393.2_Missense_Mutation_p.P595L|MYPN_ENST00000540630.1_Missense_Mutation_p.P870L	p.P870L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	WXS	Illumina GAIIx	Phase_I	Q86TC9	MYPN_HUMAN			12	3097	+			870					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.2609C>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	6.165	0.398674	0.11696	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.55413	0.52;0.61;0.58	5.87	3.95	0.45737	.	0.411719	0.27668	N	0.018360	T	0.20700	0.0498	N	0.02011	-0.69	0.38094	D	0.937041	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.09907	-1.0653	9	.	.	.	.	5.9226	0.19091	0.0:0.6341:0.0:0.3659	.	870;595;870	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	L	595;595;870;870	ENSP00000346369:P595L;ENSP00000351790:P870L;ENSP00000441668:P870L	.	P	+	2	0	MYPN	69605130	0.052000	0.20516	1.000000	0.80357	0.999000	0.98932	1.073000	0.30691	1.561000	0.49584	0.655000	0.94253	CCA		0.423	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		14	32	0	0	0	1	0	14	32					T	69935124	C	T	69935124	3	4	48	1	0	0	0	0	1	0	0	0	10107	594	21	3	2651	3	MYPN	10	69935124	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	53195	69935124	65599623	2473	6941										
MYPN	84665	broad.mit.edu	37	chr10	69966634	69966634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaatgaagccggcatcgtgtCgtgcactgccaggctggata	14	10	0	1	rs542627169		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:69966634C>T	ENST00000358913.5	+	19	4255	c.3767C>T	c.(3766-3768)tCg>tTg	p.S1256L	MYPN_ENST00000354393.2_Missense_Mutation_p.S981L|MYPN_ENST00000540630.1_Missense_Mutation_p.S1256L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1256	Ig-like 5.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GGCATCGTGTCGTGCACTGCC	0.448													C|||	1	0.000199681	8e-04	0	5008	,	,		21271	0		0	False		,,,				2504	0					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.(3766-3768)tCg>tTg		myopalladin							98	94	95					10																	69966634		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69966634C>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3767C>T	10.37:g.69966634C>T	ENSP00000351790:p.Ser1256Leu		Somatic				MYPN_ENST00000354393.2_Missense_Mutation_p.S981L|MYPN_ENST00000540630.1_Missense_Mutation_p.S1256L	p.S1256L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	WXS	Illumina GAIIx	Phase_I	Q86TC9	MYPN_HUMAN			19	4255	+			1256			Ig-like 5.|Interaction with ACTN.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.3767C>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	36	5.605557	0.96626	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.68765	-0.35;-0.35;-0.35	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.82513	0.5053	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.99;0.996;0.999	T	0.81380	-0.0959	9	.	.	.	.	19.919	0.97077	0.0:1.0:0.0:0.0	.	1256;981;1256	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	L	981;981;1256;1256	ENSP00000346369:S981L;ENSP00000351790:S1256L;ENSP00000441668:S1256L	.	S	+	2	0	MYPN	69636640	1.000000	0.71417	0.965000	0.40720	0.960000	0.62799	7.818000	0.86416	2.712000	0.92718	0.561000	0.74099	TCG		0.448	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		12	66	0	0	0	1	0	12	66					T	69966634	C	T	69966634	3	4	48	1	0	0	0	0	1	0	0	0	10107	893	31	1	3837	1	MYPN	10	69966634	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	31510	69966634	65568113	2474	6942										
PBLD	64081	broad.mit.edu	37	chr10	70045061	70045061	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgagaaggaacactagcttCgaattaggcaaataaaaaag	9	5	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70045061C>T	ENST00000358769.2	-	9	957				PBLD_ENST00000495025.2_Silent_p.S266S|PBLD_ENST00000432941.1_Silent_p.S266S|PBLD_ENST00000309049.4_Intron|PBLD_ENST00000336578.1_Intron	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing						biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACACTAGCTTCGAATTAGGCA	0.398																																						ENST00000432941.1																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(796-798)tcG>tcA		phenazine biosynthesis-like protein domain containing							76	79	78					10																	70045061		2203	4300	6503	SO:0001627	intron_variant	64081				biosynthetic process		isomerase activity	g.chr10:70045061C>T	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.754+43G>A	10.37:g.70045061C>T			Somatic				PBLD_ENST00000336578.1_Intron|PBLD_ENST00000309049.4_Intron|PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000358769.2_Intron	p.S266S	NM_001033083.1	NP_001028255.1	WXS	Illumina GAIIx	Phase_I	P30039	PBLD_HUMAN			9	1000	-			0					A8MZJ3|C9JIM0|Q9HCC2	Silent	SNP	ENST00000358769.2	37	c.798G>A	CCDS7277.2																																																																																				0.398	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		21	35	0	0	0	1	0	21	35					T	70045061	C	T	70045061	1	4	48	0	1	0	0	0	0	0	0	0	11498	871	31	1		1	PBLD	10	70045061	Intron	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	78427	70045061	65489686	2475	6943										
TET1	80312	broad.mit.edu	37	chr10	70332337	70332337	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacaagagctggagcagcacGcatgaatttggataggactg	14	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70332337G>A	ENST00000373644.4	+	2	451	c.242G>A	c.(241-243)cGc>cAc	p.R81H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	81					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.R81H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GGAGCAGCACGCATGAATTTG	0.438																																						ENST00000373644.4																			1	Substitution - Missense(1)	p.R81H(1)	endometrium(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(241-243)cGc>cAc		tet methylcytosine dioxygenase 1							67	72	71					10																	70332337		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.chr10:70332337G>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.242G>A	10.37:g.70332337G>A	ENSP00000362748:p.Arg81His		Somatic					p.R81H	NM_030625.2	NP_085128.2	WXS	Illumina GAIIx	Phase_I	Q8NFU7	TET1_HUMAN			2	451	+			81					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.242G>A	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685868	0.68157	.	.	ENSG00000138336	ENST00000373644	T	0.09911	2.93	5.24	4.33	0.51752	.	0.000000	0.43747	D	0.000528	T	0.17789	0.0427	L	0.32530	0.975	0.33018	D	0.528499	D	0.76494	0.999	P	0.59056	0.851	T	0.12319	-1.0552	10	0.48119	T	0.1	.	12.3149	0.54951	0.0793:0.0:0.9207:0.0	.	81	Q8NFU7	TET1_HUMAN	H	81	ENSP00000362748:R81H	ENSP00000362748:R81H	R	+	2	0	TET1	70002343	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	5.958000	0.70330	1.203000	0.43233	0.563000	0.77884	CGC		0.438	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		38	85	0	0	0	1	0	38	85					A	70332337	G	A	70332337	3	1	48	1	0	0	0	0	1	0	0	0	15784	1087	38	1	244	1	TET1	10	70332337	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	287276	70332337	65202410	2476	6944										
TET1	80312	broad.mit.edu	37	chr10	70405909	70405909	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catggttcatcattaacaaaAcaaaagaacccaacccagaa	4	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70405909A>G	ENST00000373644.4	+	4	3632	c.3423A>G	c.(3421-3423)aaA>aaG	p.K1141K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1141					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						CATTAACAAAACAAAAGAACC	0.388																																						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.(3421-3423)aaA>aaG		tet methylcytosine dioxygenase 1							83	76	78					10																	70405909		2203	4300	6503	SO:0001819	synonymous_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70405909A>G	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.3423A>G	10.37:g.70405909A>G			Somatic					p.K1141K	NM_030625.2	NP_085128.2	WXS	Illumina GAIIx	Phase_I	Q8NFU7	TET1_HUMAN			4	3632	+			1141					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	c.3423A>G	CCDS7281.1																																																																																				0.388	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		6	55	0	0	0	1	0	6	55					G	70405909	A	G	70405909	2	3	48	1	0	0	0	0	0	0	0	1	15784	40	2	4		4	TET1	10	70405909	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	73572	70405909	65128838	2477	6945										
CCAR1	55749	broad.mit.edu	37	chr10	70546342	70546342	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgatcacaattaacagagatCtgttaatggcttttgtttat	7	5	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70546342C>T	ENST00000265872.6	+	21	2892	c.2773C>T	c.(2773-2775)Ctg>Ttg	p.L925L	CCAR1_ENST00000543719.1_Silent_p.L910L|CCAR1_ENST00000535016.1_Silent_p.L910L	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	925					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TAACAGAGATCTGTTAATGGC	0.299																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(2773-2775)Ctg>Ttg		cell division cycle and apoptosis regulator 1							74	73	73					10																	70546342		2203	4295	6498	SO:0001819	synonymous_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70546342C>T	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2773C>T	10.37:g.70546342C>T			Somatic				CCAR1_ENST00000543719.1_Silent_p.L910L|CCAR1_ENST00000535016.1_Silent_p.L910L	p.L925L	NM_018237.2	NP_060707.2	WXS	Illumina GAIIx	Phase_I	Q8IX12	CCAR1_HUMAN			21	2892	+			925					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Silent	SNP	ENST00000265872.6	37	c.2773C>T	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	8.667	0.901926	0.17760	.	.	ENSG00000060339	ENST00000543706	.	.	.	5.47	4.57	0.56435	.	.	.	.	.	T	0.70272	0.3205	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69953	-0.5005	4	.	.	.	-8.1056	14.727	0.69351	0.0:0.9299:0.0:0.0701	.	.	.	.	F	214	.	.	S	+	2	0	CCAR1	70216348	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.599000	0.61076	1.429000	0.47314	0.655000	0.94253	TCT		0.299	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		9	17	0	0	0	1	0	9	17					T	70546342	C	T	70546342	2	4	48	1	0	0	0	0	0	0	0	1	2732	912	32	3		3	CCAR1	10	70546342	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	140433	70546342	64988405	2478	6946										
STOX1	219736	broad.mit.edu	37	chr10	70641820	70641820	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgaatacagctcagattgtAgtaacgcaggaatcactttt	8	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70641820A>G	ENST00000298596.6	+	2	500	c.417A>G	c.(415-417)gtA>gtG	p.V139V	STOX1_ENST00000399165.4_Silent_p.V139V|STOX1_ENST00000399162.2_Silent_p.V139V|STOX1_ENST00000399169.4_Silent_p.V139V|STOX1_ENST00000421961.2_Silent_p.V29V	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	139						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						CTCAGATTGTAGTAACGCAGG	0.363																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(415-417)gtA>gtG		storkhead box 1							161	144	149					10																	70641820		1850	4093	5943	SO:0001819	synonymous_variant	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70641820A>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.417A>G	10.37:g.70641820A>G			Somatic				STOX1_ENST00000421961.2_Silent_p.V29V|STOX1_ENST00000399165.4_Silent_p.V139V|STOX1_ENST00000399169.4_Silent_p.V139V|STOX1_ENST00000399162.2_Silent_p.V139V	p.V139V	NM_152709.4	NP_689922.3	WXS	Illumina GAIIx	Phase_I	Q6ZVD7	STOX1_HUMAN			2	500	+			139					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Silent	SNP	ENST00000298596.6	37	c.417A>G	CCDS41535.1																																																																																				0.363	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		23	44	0	0	0	1	0	23	44					G	70641820	A	G	70641820	2	3	48	1	0	0	0	0	0	0	0	1	15334	407	15	4		4	STOX1	10	70641820	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	95478	70641820	64892927	2479	6947										
VPS26A	9559	broad.mit.edu	37	chr10	70928317	70928317	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatgagagatgtgaacaaaaAattttcagtaaggtactttt	8	3	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70928317A>C	ENST00000373382.1	+	9	1453	c.800A>C	c.(799-801)aAa>aCa	p.K267T	VPS26A_ENST00000546041.1_Missense_Mutation_p.K250T|VPS26A_ENST00000541711.1_Missense_Mutation_p.K156T|VPS26A_ENST00000263559.6_Missense_Mutation_p.K267T|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000489794.1_Intron|VPS26A_ENST00000395098.1_Intron			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	267					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GTGAACAAAAAATTTTCAGTA	0.368																																					Colon(90;545 1358 4729 6702 16773)	ENST00000373382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						c.(799-801)aAa>aCa		vacuolar protein sorting 26 homolog A (S. pombe)							92	97	96					10																	70928317		2203	4300	6503	SO:0001583	missense	9559				retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity	g.chr10:70928317A>C	AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"vacuolar protein sorting 26 (yeast homolog)", "vacuolar protein sorting 26 (yeast)", "vacuolar protein sorting 26 homolog A (yeast)"	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.800A>C	10.37:g.70928317A>C	ENSP00000362480:p.Lys267Thr		Somatic				VPS26A_ENST00000546041.1_Missense_Mutation_p.K250T|VPS26A_ENST00000263559.6_Missense_Mutation_p.K267T|VPS26A_ENST00000541711.1_Missense_Mutation_p.K156T|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000489794.1_Intron|VPS26A_ENST00000395098.1_Intron	p.K267T			WXS	Illumina GAIIx	Phase_I	O75436	VP26A_HUMAN			9	1453	+			267					A8MZ56|B2RDD3|Q8TBH4|Q9H982	Missense_Mutation	SNP	ENST00000373382.1	37	c.800A>C	CCDS7286.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.988357	0.93106	.	.	ENSG00000122958	ENST00000373382;ENST00000263559;ENST00000546041;ENST00000541711	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.84142	0.5407	M	0.90198	3.095	0.80722	D	1	D;D	0.63880	0.993;0.986	D;P	0.74023	0.982;0.889	D	0.87077	0.2163	9	0.54805	T	0.06	-15.9811	14.8619	0.70387	1.0:0.0:0.0:0.0	.	250;267	F5H4L7;O75436	.;VP26A_HUMAN	T	267;267;250;156	.	ENSP00000263559:K267T	K	+	2	0	VPS26A	70598323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.283000	0.95860	1.986000	0.57962	0.460000	0.39030	AAA		0.368	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	NM_004896		28	39	0	0	0	1	0	28	39					C	70928317	A	C	70928317	3	2	48	1	0	0	0	0	1	0	0	0	17212	14	1	4	830	4	VPS26A	10	70928317	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	286497	70928317	64606430	2480	6948										
SUPV3L1	6832	broad.mit.edu	37	chr10	70946299	70946299	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttttgaatgatatttgcttCggtgcaggcaagtgtttaga	12	4	0	3	rs149476310	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70946299C>T	ENST00000359655.4	+	3	510	c.450C>T	c.(448-450)ttC>ttT	p.F150F	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	150					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.F150F(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						ATATTTGCTTCGGTGCAGGCA	0.363													C|||	3	0.000599042	0	0	5008	,	,		19267	0		0.001	False		,,,				2504	0.002					ENST00000359655.4																			1	Substitution - coding silent(1)	p.F150F(1)	endometrium(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.(448-450)ttC>ttT		suppressor of var1, 3-like 1 (S. cerevisiae)		C		0,4406		0,0,2203	156	150	152		450	6.1	1	10	dbSNP_134	152	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SUPV3L1	NM_003171.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		150/787	70946299	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70946299C>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.450C>T	10.37:g.70946299C>T			Somatic				SUPV3L1_ENST00000483572.1_3'UTR	p.F150F	NM_003171.3	NP_003162.2	WXS	Illumina GAIIx	Phase_I	Q8IYB8	SUV3_HUMAN			3	510	+			150					A8K301|O43630	Silent	SNP	ENST00000359655.4	37	c.450C>T	CCDS7287.1																																																																																				0.363	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		20	45	0	0	0	1	0	20	45					T	70946299	C	T	70946299	2	4	48	1	0	0	0	0	0	0	0	1	15417	883	31	1		1	SUPV3L1	10	70946299	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	17982	70946299	64588448	2481	6949										
HKDC1	80201	broad.mit.edu	37	chr10	71020933	71020933	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgggatgtacttgggggagaTtgtgcggcagatcctgatcg	17	6	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:71020933T>G	ENST00000354624.5	+	16	2388	c.2255T>G	c.(2254-2256)aTt>aGt	p.I752S	HKDC1_ENST00000395086.2_Missense_Mutation_p.I752S	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	752	Hexokinase type-2 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						TTGGGGGAGATTGTGCGGCAG	0.527																																						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.(2254-2256)aTt>aGt		hexokinase domain containing 1							118	95	103					10																	71020933		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71020933T>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.2255T>G	10.37:g.71020933T>G	ENSP00000346643:p.Ile752Ser		Somatic				HKDC1_ENST00000395086.2_Missense_Mutation_p.I752S	p.I752S	NM_025130.3	NP_079406.3	WXS	Illumina GAIIx	Phase_I	Q2TB90	HKDC1_HUMAN			16	2388	+			752					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.2255T>G	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428926	0.83667	.	.	ENSG00000156510	ENST00000354624;ENST00000395086	D;D	0.97455	-4.39;-4.39	4.66	4.66	0.58398	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99052	0.9675	H	0.98276	4.19	0.58432	D	0.999999	D	0.67145	0.996	D	0.74023	0.982	D	0.99029	1.0820	10	0.87932	D	0	-16.4402	14.2344	0.65916	0.0:0.0:0.0:1.0	.	752	Q2TB90	HKDC1_HUMAN	S	752	ENSP00000346643:I752S;ENSP00000378521:I752S	ENSP00000346643:I752S	I	+	2	0	HKDC1	70690939	1.000000	0.71417	0.984000	0.44739	0.981000	0.71138	7.868000	0.87116	1.949000	0.56562	0.402000	0.26972	ATT		0.527	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		21	45	0	0	0	1	0	21	45					G	71020933	T	G	71020933	3	3	48	1	0	0	0	0	1	0	0	0	7202	1493	52	4	2317	4	HKDC1	10	71020933	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	74634	71020933	64513814	2482	6950										
COL13A1	1305	broad.mit.edu	37	chr10	71640268	71640268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctccccgcaggggtcccccGgagacgctgggctgtccatc	13	17	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:71640268G>A	ENST00000398978.3	+	6	937	c.445G>A	c.(445-447)Gga>Aga	p.G149R	COL13A1_ENST00000398966.3_Missense_Mutation_p.G149R|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000517713.1_Missense_Mutation_p.G149R|COL13A1_ENST00000398974.3_Missense_Mutation_p.G137R|COL13A1_ENST00000398972.3_Missense_Mutation_p.G149R|COL13A1_ENST00000357811.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000522165.1_Missense_Mutation_p.G149R|COL13A1_ENST00000398971.3_Missense_Mutation_p.G149R|COL13A1_ENST00000354547.3_Missense_Mutation_p.G149R|COL13A1_ENST00000356340.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398973.3_Missense_Mutation_p.G149R|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398968.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398964.3_Intron	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1									p.G149R(2)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						GGGGTCCCCCGGAGACGCTGG	0.622																																						ENST00000356340.3																			2	Substitution - Missense(2)	p.G149R(2)	large_intestine(1)|endometrium(1)	endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(445-447)Gga>Aga		collagen, type XIII, alpha 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						33	34	33					10																	71640268		1822	4077	5899	SO:0001583	missense	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71640268G>A	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"Collagens"	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.445G>A	10.37:g.71640268G>A	ENSP00000381949:p.Gly149Arg		Somatic				COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398973.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398971.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398974.3_Missense_Mutation_p.G137R|COL13A1_ENST00000398972.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398966.3_Missense_Mutation_p.G149R|COL13A1_ENST00000522165.1_Missense_Mutation_p.G149R|COL13A1_ENST00000398968.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000357811.3_Missense_Mutation_p.G149R|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398978.3_Missense_Mutation_p.G149R|COL13A1_ENST00000354547.3_Missense_Mutation_p.G149R|COL13A1_ENST00000517713.1_Missense_Mutation_p.G149R|COL13A1_ENST00000398964.3_Intron	p.G149R			WXS	Illumina GAIIx	Phase_I	Q5TAT6	CODA1_HUMAN			5	981	+			149			Triple-helical region 1 (COL1).			Missense_Mutation	SNP	ENST00000398978.3	37	c.445G>A	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961267	0.53400	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000517713;ENST00000522165	D;D;D;D;D;D;D;D;D;D;D;D	0.95724	-3.52;-3.69;-3.59;-3.66;-3.79;-3.31;-3.46;-3.42;-3.37;-3.36;-3.21;-3.32	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000003	D	0.97983	0.9336	M	0.88031	2.925	0.46222	D	0.998939	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.999;0.999;0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.98794	1.0737	10	0.87932	D	0	-3.9353	16.1293	0.81414	0.0:0.0:1.0:0.0	.	149;149;149;149;149;149;137;149;149;149;158;149;149;149;149	Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES46;E7ES49;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;G5E987	CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.	R	137;149;149;149;149;149;149;149;149;149;149;149	ENSP00000381946:G137R;ENSP00000381943:G149R;ENSP00000381940:G149R;ENSP00000381938:G149R;ENSP00000348695:G149R;ENSP00000381944:G149R;ENSP00000381945:G149R;ENSP00000381949:G149R;ENSP00000346553:G149R;ENSP00000350463:G149R;ENSP00000430061:G149R;ENSP00000428342:G149R	ENSP00000346553:G149R	G	+	1	0	COL13A1	71310274	1.000000	0.71417	0.998000	0.56505	0.707000	0.40811	4.768000	0.62293	2.559000	0.86315	0.655000	0.94253	GGA		0.622	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		11	29	0	0	0	1	0	11	29					A	71640268	G	A	71640268	3	1	48	1	0	0	0	0	1	0	0	0	3672	1117	39	1	467	1	COL13A1	10	71640268	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	619335	71640268	63894479	2483	6951										
PRF1	5551	broad.mit.edu	37	chr10	72360548	72360548	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccagccatgcaccaggcacGaacttgtggctgcgcttgca	12	14	0	0	rs547321451	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:72360548G>A	ENST00000441259.1	-	2	271	c.111C>T	c.(109-111)ttC>ttT	p.F37F	PRF1_ENST00000373209.2_Silent_p.F37F	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	37	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CACCAGGCACGAACTTGTGGC	0.687			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				G|||	14	0.00279553	0	0	5008	,	,		16308	0		0	False		,,,				2504	0.0143					ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"various leukaemia, lymphoma"			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						c.(109-111)ttC>ttT		perforin 1 (pore forming protein)							28	30	29					10																	72360548		2202	4297	6499	SO:0001819	synonymous_variant	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72360548G>A	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.111C>T	10.37:g.72360548G>A			Somatic				PRF1_ENST00000373209.2_Silent_p.F37F	p.F37F	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	WXS	Illumina GAIIx	Phase_I	P14222	PERF_HUMAN			2	271	-			37			MACPF.		B2R6X4|Q59F57|Q86WX7	Silent	SNP	ENST00000441259.1	37	c.111C>T	CCDS7305.1																																																																																				0.687	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		7	29	0	0	0	1	0	7	29					A	72360548	G	A	72360548	2	1	48	1	0	0	0	0	0	0	0	1	12490	1049	37	1		1	PRF1	10	72360548	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	720280	72360548	63174199	2484	6952										
ADAMTS14	140766	broad.mit.edu	37	chr10	72517751	72517751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtggagagggcatccagcagCggcaggtggtgtgcaggacc	19	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:72517751C>T	ENST00000373207.1	+	20	2971	c.2971C>T	c.(2971-2973)Cgg>Tgg	p.R991W	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R994W	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	991	TSP type-1 4. {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						CATCCAGCAGCGGCAGGTGGT	0.652																																						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.(2980-2982)Cgg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 14							52	52	52					10																	72517751		2201	4294	6495	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72517751C>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.2971C>T	10.37:g.72517751C>T	ENSP00000362303:p.Arg991Trp		Somatic				ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R991W	p.R994W	NM_139155.2	NP_631894.2	WXS	Illumina GAIIx	Phase_I	Q8WXS8	ATS14_HUMAN			20	2980	+			991			TSP type-1 4.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.2980C>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681753	0.68042	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.80909	-1.43;-1.43	4.34	2.42	0.29668	.	0.068135	0.56097	D	0.000028	D	0.94178	0.8132	H	0.99847	4.84	0.45690	D	0.998604	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94645	0.7834	10	0.87932	D	0	.	12.6818	0.56926	0.2985:0.7015:0.0:0.0	.	991;994	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	W	994;991	ENSP00000362304:R994W;ENSP00000362303:R991W	ENSP00000362303:R991W	R	+	1	2	ADAMTS14	72187757	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	3.220000	0.51207	0.432000	0.26286	0.561000	0.74099	CGG		0.652	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		19	46	0	0	0	1	0	19	46					T	72517751	C	T	72517751	3	4	48	1	0	0	0	0	1	0	0	0	259	759	27	1	3058	1	ADAMTS14	10	72517751	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	157203	72517751	63016996	2485	6953										
CDH23	64072	broad.mit.edu	37	chr10	73442306	73442306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acccccctctcaacagcaccGtccctgtcaccatcgaggtg	7	19	2	0	rs374805957		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:73442306G>A	ENST00000224721.6	+	17	1983	c.1978G>A	c.(1978-1980)Gtc>Atc	p.V660I	CDH23_ENST00000299366.7_Missense_Mutation_p.V700I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	655	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAACAGCACCGTCCCTGTCAC	0.552																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(1978-1980)Gtc>Atc		cadherin-related 23		G	ILE/VAL,ILE/VAL,ILE/VAL	0,4088		0,0,2044	80	85	83		1963,1963,1963	5.3	0.9	10		83	1,8399		0,1,4199	no	missense,missense,missense	CDH23	NM_001171930.1,NM_001171931.1,NM_022124.5	29,29,29	0,1,6243	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging,probably-damaging,probably-damaging	655/1382,655/1062,655/3355	73442306	1,12487	2044	4200	6244	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.chr10:73442306G>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.1978G>A	10.37:g.73442306G>A	ENSP00000224721:p.Val660Ile		Somatic				CDH23_ENST00000299366.7_Missense_Mutation_p.V700I	p.V660I	NM_022124.5	NP_071407.4	WXS	Illumina GAIIx	Phase_I	Q9H251	CAD23_HUMAN			17	1983	+			655			Cadherin 6.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.1978G>A		.	.	.	.	.	.	.	.	.	.	G	27.0	4.792008	0.90453	0.0	1.19E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.31	5.31	0.75309	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000016	T	0.77452	0.4132	L	0.58969	1.84	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.991;0.934	T	0.78422	-0.2210	9	0.59425	D	0.04	.	18.98	0.92752	0.0:0.0:1.0:0.0	.	655;658;655	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	I	660;655;655;658;658;172	.	ENSP00000224721:V660I	V	+	1	0	CDH23	73112312	1.000000	0.71417	0.940000	0.37924	0.692000	0.40212	9.827000	0.99397	2.495000	0.84180	0.655000	0.94253	GTC		0.552	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		5	23	0	0	0	1	0	5	23					A	73442306	G	A	73442306	3	1	48	1	0	0	0	0	1	0	0	0	3110	1145	40	1	2256	1	CDH23	10	73442306	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	924555	73442306	62092441	2486	6954										
CDH23	64072	broad.mit.edu	37	chr10	73544715	73544715	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgctgaacctgcccatgaAcatcaccatcagcgagaaca	8	14	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:73544715A>G	ENST00000224721.6	+	42	5590	c.5585A>G	c.(5584-5586)aAc>aGc	p.N1862S		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1857	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTGCCCATGAACATCACCATC	0.597																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(5584-5586)aAc>aGc		cadherin-related 23							95	101	99					10																	73544715		2195	4287	6482	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.chr10:73544715A>G	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.5585A>G	10.37:g.73544715A>G	ENSP00000224721:p.Asn1862Ser		Somatic					p.N1862S	NM_022124.5	NP_071407.4	WXS	Illumina GAIIx	Phase_I	Q9H251	CAD23_HUMAN			42	5590	+			1857			Cadherin 18.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.5585A>G		.	.	.	.	.	.	.	.	.	.	A	9.950	1.219975	0.22373	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	4.35	4.35	0.52113	Cadherin (3);Cadherin-like (1);	0.056957	0.64402	D	0.000002	T	0.46367	0.1389	N	0.25332	0.735	0.80722	D	1	P	0.52170	0.951	P	0.53760	0.734	T	0.40553	-0.9557	9	0.02654	T	1	.	13.8261	0.63351	1.0:0.0:0.0:0.0	.	1857	Q9H251	CAD23_HUMAN	S	1862;1857;1860	.	ENSP00000224721:N1862S	N	+	2	0	CDH23	73214721	1.000000	0.71417	0.955000	0.39395	0.383000	0.30230	9.248000	0.95456	1.731000	0.51592	0.254000	0.18369	AAC		0.597	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		27	62	0	0	0	1	0	27	62					G	73544715	A	G	73544715	3	3	48	1	0	0	0	0	1	0	0	0	3110	43	2	4	6081	4	CDH23	10	73544715	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	102409	73544715	61990032	2487	6955										
CBARA1	10367	broad.mit.edu	37	chr10	74127971	74127971	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggttactgtttgggtaaagcGaagtcccaggcagtttcctg	13	8	0	0	rs539250393		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:74127971G>A	ENST00000361114.5	-	12	1509	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	MICU1_ENST00000418483.2_Silent_p.F273F|MICU1_ENST00000398761.4_Silent_p.F473F|MICU1_ENST00000401998.3_Silent_p.F471F|MICU1_ENST00000398763.4_Silent_p.F273F	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	471					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)										TGGGTAAAGCGAAGTCCCAGG	0.587													G|||	1	0.000199681	0	0	5008	,	,		19030	0		0	False		,,,				2504	0.001					ENST00000398761.4																			0											c.(1417-1419)ttC>ttT		mitochondrial calcium uptake 1							82	83	83					10																	74127971		1927	4144	6071	SO:0001819	synonymous_variant	10367				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74127971G>A	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.1413C>T	10.37:g.74127971G>A			Somatic				MICU1_ENST00000401998.3_Silent_p.F471F|MICU1_ENST00000398763.4_Silent_p.F273F|MICU1_ENST00000361114.5_Silent_p.F471F|MICU1_ENST00000418483.2_Silent_p.F273F	p.F473F			WXS	Illumina GAIIx	Phase_I	Q9BPX6	MICU1_HUMAN			14	1551	-			471					A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Silent	SNP	ENST00000361114.5	37	c.1419C>T	CCDS55715.1																																																																																				0.587	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		12	21	0	0	0	1	0	12	21					A	74127971	G	A	74127971	2	1	48	1	0	0	0	0	0	0	0	1	2698	1049	37	1		1	CBARA1	10	74127971	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	583256	74127971	61406776	2488	6956										
CBARA1	10367	broad.mit.edu	37	chr10	74293523	74293523	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctttccatcaaagcgttttAttatatattgatccagaccc	4	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:74293523A>C	ENST00000361114.5	-	5	614	c.518T>G	c.(517-519)aTa>aGa	p.I173R	MICU1_ENST00000398761.4_Missense_Mutation_p.I173R|MICU1_ENST00000401998.3_Missense_Mutation_p.I173R	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	173					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)										AAAGCGTTTTATTATATATTG	0.294																																						ENST00000398761.4																			0											c.(517-519)aTa>aGa		mitochondrial calcium uptake 1							68	68	68					10																	74293523		1797	4063	5860	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.chr10:74293523A>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.518T>G	10.37:g.74293523A>C	ENSP00000354415:p.Ile173Arg		Somatic				MICU1_ENST00000401998.3_Missense_Mutation_p.I173R|MICU1_ENST00000361114.5_Missense_Mutation_p.I173R	p.I173R			WXS	Illumina GAIIx	Phase_I	Q9BPX6	MICU1_HUMAN			5	650	-			173					A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	c.518T>G	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.541605	0.65085	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998	T;T;T	0.80909	-1.43;-1.31;-1.43	5.54	5.54	0.83059	EF-hand-like domain (1);	0.291406	0.37530	N	0.002044	T	0.72542	0.3473	L	0.38175	1.15	0.80722	D	1	B	0.29341	0.242	B	0.31614	0.133	T	0.68228	-0.5464	10	0.19147	T	0.46	.	13.922	0.63937	1.0:0.0:0.0:0.0	.	173	Q9BPX6	MICU1_HUMAN	R	173	ENSP00000354415:I173R;ENSP00000381745:I173R;ENSP00000384068:I173R	ENSP00000354415:I173R	I	-	2	0	MICU1	73963529	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.019000	0.64060	2.110000	0.64415	0.455000	0.32223	ATA		0.294	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		5	7	0	0	0	1	0	5	7					C	74293523	A	C	74293523	3	2	48	1	0	0	0	0	1	0	0	0	2698	449	16	4	950	4	CBARA1	10	74293523	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	165552	74293523	61241224	2489	6957										
ECD	11319	broad.mit.edu	37	chr10	74916109	74916109	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaatgtgctgtgattatatTcaatgcttgtggaattgttg	11	3	1	2	rs373804811		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:74916109T>G	ENST00000372979.4	-	5	720	c.514A>C	c.(514-516)Aat>Cat	p.N172H	ECD_ENST00000454759.2_Missense_Mutation_p.N172H|ECD_ENST00000610256.1_5'Flank|ECD_ENST00000430082.2_Missense_Mutation_p.N172H	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	172					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)					GTGATTATATTCAATGCTTGT	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.(514-516)Aat>Cat		ecdysoneless homolog (Drosophila)							140	137	138					10																	74916109		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.chr10:74916109T>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.514A>C	10.37:g.74916109T>G	ENSP00000362070:p.Asn172His		Somatic				ECD_ENST00000430082.1_Missense_Mutation_p.N172H|ECD_ENST00000454759.1_Missense_Mutation_p.N172H	p.N172H	NM_007265.2	NP_009196.1	WXS	Illumina GAIIx	Phase_I	O95905	SGT1_HUMAN			5	720	-	Prostate(51;0.0119)		172					C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	37	c.514A>C	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	T	3.262	-0.150910	0.06585	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759;ENST00000453402;ENST00000413026	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	6.02	-2.45	0.06481	.	0.773922	0.13194	N	0.406500	T	0.07413	0.0187	N	0.16903	0.455	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.002;0.004;0.002	T	0.27400	-1.0075	10	0.45353	T	0.12	-12.5433	2.0813	0.03635	0.1301:0.2282:0.402:0.2398	.	172;172;172	E9PAW8;C9JX46;O95905	.;.;SGT1_HUMAN	H	172;172;172;98;146	ENSP00000362070:N172H;ENSP00000401566:N172H;ENSP00000395786:N172H;ENSP00000391367:N98H;ENSP00000416288:N146H	ENSP00000362070:N172H	N	-	1	0	ECD	74586115	0.000000	0.05858	0.250000	0.24296	0.111000	0.19643	-0.435000	0.06931	0.145000	0.18977	-0.291000	0.09656	AAT		0.403	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		32	36	0	0	0	1	0	32	36					G	74916109	T	G	74916109	3	3	48	1	0	0	0	0	1	0	0	0	4890	1783	62	4	1563	4	ECD	10	74916109	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	622586	74916109	60618638	2490	6958										
PPP3CB	5532	broad.mit.edu	37	chr10	75234763	75234763	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtgcttgggtatagaatcTtcagaacccataaatataag	8	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:75234763T>G	ENST00000360663.5	-	4	548	c.437A>C	c.(436-438)aAg>aCg	p.K146T	PPP3CB_ENST00000394822.2_Missense_Mutation_p.K164T|PPP3CB_ENST00000342558.3_Missense_Mutation_p.K146T|PPP3CB_ENST00000394829.2_Missense_Mutation_p.K146T|PPP3CB_ENST00000394828.2_Missense_Mutation_p.K146T|PPP3CB_ENST00000545874.1_Missense_Mutation_p.K60T			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	146	Catalytic.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GTATAGAATCTTCAGAACCCA	0.348																																						ENST00000360663.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22						c.(436-438)aAg>aCg		protein phosphatase 3, catalytic subunit, beta isozyme							77	80	79					10																	75234763		2203	4300	6503	SO:0001583	missense	5532							g.chr10:75234763T>G	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9315	protein-coding gene	gene with protein product	"calcineurin A beta", "protein phosphatase 2B, catalytic subunit, beta isoform"	114106	"protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)", "protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.437A>C	10.37:g.75234763T>G	ENSP00000353881:p.Lys146Thr		Somatic				PPP3CB_ENST00000342558.3_Missense_Mutation_p.K146T|PPP3CB_ENST00000394829.2_Missense_Mutation_p.K146T|PPP3CB_ENST00000545874.1_Missense_Mutation_p.K60T|PPP3CB_ENST00000394822.2_Missense_Mutation_p.K164T|PPP3CB_ENST00000394828.2_Missense_Mutation_p.K146T	p.K146T			WXS	Illumina GAIIx	Phase_I	P16298	PP2BB_HUMAN			4	548	-	Prostate(51;0.0119)		146			Catalytic.		P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	c.437A>C	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.431582	0.83776	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000342558;ENST00000545874;ENST00000394822	T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92	4.68	4.68	0.58851	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.172184	0.39407	N	0.001369	T	0.55242	0.1908	H	0.99874	4.875	0.80722	D	1	P;D;D;D;D	0.89917	0.632;0.967;1.0;1.0;1.0	P;P;D;D;D	0.97110	0.808;0.905;1.0;0.997;0.999	T	0.77661	-0.2504	10	0.87932	D	0	.	14.424	0.67202	0.0:0.0:0.0:1.0	.	164;60;146;146;146	P16298-2;F5H0F8;P16298-3;Q8N1F0;P16298	.;.;.;.;PP2BB_HUMAN	T	146;146;146;146;60;164	ENSP00000353881:K146T;ENSP00000378306:K146T;ENSP00000378305:K146T;ENSP00000343147:K146T;ENSP00000439876:K60T;ENSP00000378299:K164T	ENSP00000343147:K146T	K	-	2	0	PPP3CB	74904769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.977000	0.88081	1.881000	0.54492	0.528000	0.53228	AAG		0.348	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132		4	41	0	0	0	1	0	4	41					G	75234763	T	G	75234763	3	3	48	1	0	0	0	0	1	0	0	0	12410	1609	56	4	1184	4	PPP3CB	10	75234763	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	318654	75234763	60299984	2491	6959										
MYOZ1	58529	broad.mit.edu	37	chr10	75393727	75393728	+	Frame_Shift_Ins	INS	-	-	T													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggtcaatgccaagttccaINSttttttgctgggggtcaacc							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:75393727_75393728insT	ENST00000359322.4	-	5	962_963	c.598_599insA	c.(598-600)atgfs	p.M200fs	RP11-464F9.22_ENST00000609434.1_lincRNA	NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GCCAAGTTCCATTTTTTGCTGG	0.515																																						ENST00000359322.4																			0				central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12						c.(598-600)ggafs		myozenin 1																																				SO:0001589	frameshift_variant	58529				myofibril assembly	nucleus|pseudopodium	FATZ binding	g.chr10:75393727_75393728insT	AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"calsarcin-2"	605603	"myozenin"	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.599dupA	10.37:g.75393733_75393733dupT	ENSP00000352272:p.Met200fs		Somatic					p.G200fs	NM_021245.3	NP_067068.1	WXS	Illumina GAIIx	Phase_I	Q9NP98	MYOZ1_HUMAN			5	962_963	-	Prostate(51;0.0112)		200						Frame_Shift_Ins	INS	ENST00000359322.4	37	c.598_599insA	CCDS7330.1																																																																																				0.515	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1			25	69						25	69	---	---	---	---	T	75393728	-	T	75393727	7	5	48	1	0	1	1	0	0	0	0	0	10104	217	8	0	308	0	MYOZ1	10	75393727	Frame_Shift_Ins	INS	-	TCGA-ND-A4WC-01A-21D-A28R-08	158964	75393727	60141020	2492	6960										
PLAU	414236	broad.mit.edu	37	chr10	75673107	75673107	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgggcctaaagctgcttgTccaagagtgcatggtgcatg	15	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:75673107T>C	ENST00000409178.1	-	3	268				PLAU_ENST00000372764.3_Missense_Mutation_p.V143A|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000446342.1_Missense_Mutation_p.V126A|PLAU_ENST00000372762.4_Missense_Mutation_p.V107A|PLAU_ENST00000494287.1_3'UTR	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					AAGCTGCTTGTCCAAGAGTGC	0.542																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.(376-378)gTc>gCc		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						133	125	128					10																	75673107		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.chr10:75673107T>C		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.73-274A>G	10.37:g.75673107T>C			Somatic				C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.V143A|PLAU_ENST00000372762.4_Missense_Mutation_p.V107A	p.V126A	NM_001145031.1	NP_001138503.1	WXS	Illumina GAIIx	Phase_I	P00749	UROK_HUMAN			5	859	+	Prostate(51;0.0112)		143			Kringle.		Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	c.377T>C	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	T	8.561	0.877839	0.17395	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	T;T;T	0.62639	0.01;0.01;0.01	5.47	4.28	0.50868	Kringle (4);Kringle-like fold (1);	1.140210	0.06267	N	0.694962	T	0.55386	0.1917	L	0.49778	1.585	0.58432	D	0.999997	B;B;P;B	0.35872	0.059;0.126;0.525;0.271	B;B;B;B	0.34590	0.062;0.103;0.186;0.158	T	0.44667	-0.9313	10	0.17832	T	0.49	.	8.7598	0.34667	0.1673:0.0:0.0:0.8327	.	126;107;143;143	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	A	126;143;107;107	ENSP00000388474:V126A;ENSP00000361850:V143A;ENSP00000361848:V107A	ENSP00000361847:V107A	V	+	2	0	PLAU	75343113	0.126000	0.22350	0.899000	0.35326	0.238000	0.25445	1.389000	0.34453	2.072000	0.62099	0.528000	0.53228	GTC		0.542	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		41	73	0	0	0	1	0	41	73					C	75673107	T	C	75673107	1	2	48	0	1	0	0	0	0	0	0	0	12031	1667	58	4		4	PLAU	10	75673107	Intron	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	279380	75673107	59861640	2493	6961										
VCL	7414	broad.mit.edu	37	chr10	75830449	75830449	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttgagaatgcttgcaccaaGcttgtccaggcagctcagat	11	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:75830449G>A	ENST00000211998.4	+	3	355	c.261G>A	c.(259-261)aaG>aaA	p.K87K	VCL_ENST00000417648.2_Silent_p.K87K|VCL_ENST00000372755.3_Silent_p.K87K|VCL_ENST00000478896.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	87	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CTTGCACCAAGCTTGTCCAGG	0.468																																						ENST00000211998.4																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(259-261)aaG>aaA		vinculin							156	144	148					10																	75830449		2203	4300	6503	SO:0001819	synonymous_variant	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75830449G>A	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.261G>A	10.37:g.75830449G>A			Somatic				VCL_ENST00000417648.2_Silent_p.K87K|VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Silent_p.K87K	p.K87K	NM_014000.2	NP_054706.1	WXS	Illumina GAIIx	Phase_I	P18206	VINC_HUMAN			3	355	+	Prostate(51;0.0112)		87			N-terminal globular head.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Silent	SNP	ENST00000211998.4	37	c.261G>A	CCDS7341.1																																																																																				0.468	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		31	65	0	0	0	1	0	31	65					A	75830449	G	A	75830449	2	1	48	1	0	0	0	0	0	0	0	1	17154	962	34	3		3	VCL	10	75830449	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	157342	75830449	59704298	2494	6962										
DUSP13	142891	broad.mit.edu	37	chr10	76868869	76868869	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaggatgctggggcaaggcGtggctttgtcctctcccccc	13	15	1	0	rs377547251		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:76868869G>A	ENST00000542569.1	+	0	0				DUSP13_ENST00000607131.1_De_novo_Start_OutOfFrame|SAMD8_ENST00000372690.3_5'Flank|DUSP13_ENST00000372700.3_Missense_Mutation_p.T16M|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372702.3_Missense_Mutation_p.T16M|SAMD8_ENST00000372687.4_5'Flank|DUSP13_ENST00000491677.2_De_novo_Start_OutOfFrame	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8						ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GGGGCAAGGCGTGGCTTTGTC	0.627																																						ENST00000491677.2																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8								dual specificity phosphatase 13		G	MET/THR,MET/THR,	0,4406		0,0,2203	60	54	56		47,47,	4	0	10		56	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-5	DUSP13	NM_001007271.1,NM_001007272.1,NM_001007273.1	81,81,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	16/189,16/249,	76868869	1,13005	2203	4300	6503	SO:0001631	upstream_gene_variant	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76868869G>A	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"Sterile alpha motif (SAM) domain containing"	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515		10.37:g.76868869G>A	Exception_encountered		Somatic				DUSP13_ENST00000607131.1_De_novo_Start_OutOfFrame|DUSP13_ENST00000372702.3_Missense_Mutation_p.T16M|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.T16M		NM_001007271.1	NP_001007272.1	WXS	Illumina GAIIx	Phase_I	Q6B8I1	MDSP_HUMAN			0	101	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)							Q5JSC5|Q5JSC8|Q66K52	Translation_Start_Site	SNP	ENST00000542569.1	37		CCDS53543.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.211339	0.39102	0.0	1.16E-4	ENSG00000079393	ENST00000372702;ENST00000372700	T;T	0.05319	3.88;3.46	5.91	3.97	0.46021	.	.	.	.	.	T	0.07369	0.0186	L	0.36672	1.1	0.23704	N	0.997066	D;P	0.56287	0.975;0.698	P;B	0.44561	0.453;0.132	T	0.26467	-1.0102	9	0.72032	D	0.01	.	8.7849	0.34814	0.0807:0.1514:0.7679:0.0	.	16;16	Q9UII6-4;Q6B8I1	.;MDSP_HUMAN	M	16	ENSP00000361787:T16M;ENSP00000361785:T16M	ENSP00000361785:T16M	T	-	2	0	DUSP13	76538875	0.005000	0.15991	0.035000	0.18076	0.643000	0.38383	1.202000	0.32271	1.513000	0.48852	0.655000	0.94253	ACG		0.627	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		19	33	0	0	0	1	0	19	33					A	76868869	G	A	76868869	1	1	48	0	1	0	0	0	0	0	0	0	4815	1145	40	1		1	DUSP13	10	76868869	5'Flank	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1038420	76868869	58665878	2495	6963										
KCNMA1	3778	broad.mit.edu	37	chr10	78868324	78868324	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcagggacgtagctggcaaAcatggcctgagaagatagga	14	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:78868324A>G	ENST00000286628.8	-	9	1137	c.1138T>C	c.(1138-1140)Ttt>Ctt	p.F380L	KCNMA1_ENST00000372440.1_Missense_Mutation_p.F380L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.F380L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.F380L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.F380L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.F380L|KCNMA1_ENST00000286627.5_Missense_Mutation_p.F380L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.F380L	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	380					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)			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)	TAGCTGGCAAACATGGCCTGA	0.468																																						ENST00000286627.5																			0				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.(1138-1140)Ttt>Ctt		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)						85	85	85					10																	78868324		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.chr10:78868324A>G	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.1138T>C	10.37:g.78868324A>G	ENSP00000286628:p.Phe380Leu		Somatic				KCNMA1_ENST00000372443.1_Missense_Mutation_p.F380L|KCNMA1_ENST00000286628.8_Missense_Mutation_p.F380L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.F380L|KCNMA1_ENST00000404857.1_Missense_Mutation_p.F380L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.F380L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.F380L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.F380L	p.F380L	NM_002247.3	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)		9	2090	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		380					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.1138T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.7|29.7	5.032314|5.032314	0.93575|0.93575	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208	D;D;D;D;D;D;D;D;D|.	0.97959|.	-4.63;-4.63;-4.63;-4.63;-4.63;-4.63;-4.63;-4.63;-4.63|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Ion transport (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55178|0.55178	0.1904|0.1904	N|N	0.26092|0.26092	0.79|0.79	0.80722|0.80722	D|D	1|1	D;P;D;D;P;D;D|.	0.89917|.	0.994;0.924;0.992;1.0;0.931;0.997;0.999|.	D;D;D;D;P;D;D|.	0.91635|.	0.992;0.953;0.985;0.999;0.908;0.996;0.997|.	T|T	0.51560|0.51560	-0.8690|-0.8690	10|5	0.87932|.	D|.	0|.	-11.2123|-11.2123	16.3662|16.3662	0.83325|0.83325	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	380;380;380;380;380;162;380|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.|.	L|A	380;317;315;354;317;380;380;354;380;380;380;162|368;58	ENSP00000361517:F380L;ENSP00000361485:F317L;ENSP00000361514:F315L;ENSP00000396608:F354L;ENSP00000361520:F380L;ENSP00000286627:F380L;ENSP00000385552:F380L;ENSP00000346321:F380L;ENSP00000385806:F380L|.	ENSP00000286627:F380L|.	F|V	-|-	1|2	0|0	KCNMA1|KCNMA1	78538330|78538330	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.932000|8.932000	0.92897|0.92897	2.274000|2.274000	0.75844|0.75844	0.533000|0.533000	0.62120|0.62120	TTT|GTT		0.468	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		17	34	0	0	0	1	0	17	34					G	78868324	A	G	78868324	3	3	48	1	0	0	0	0	1	0	0	0	8082	43	2	4	2824	4	KCNMA1	10	78868324	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1999455	78868324	56666423	2496	6964										
DLG5	9231	broad.mit.edu	37	chr10	79595622	79595622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acagagccttgcactgctttCgaaggatttcaacctccttg	8	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:79595622C>T	ENST00000372391.2	-	8	1501	c.1496G>A	c.(1495-1497)cGa>cAa	p.R499Q	DLG5_ENST00000372388.2_Missense_Mutation_p.R499Q	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	499					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)			GCACTGCTTTCGAAGGATTTC	0.597																																						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.(1495-1497)cGa>cAa		discs, large homolog 5 (Drosophila)							116	99	105					10																	79595622		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79595622C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1496G>A	10.37:g.79595622C>T	ENSP00000361467:p.Arg499Gln		Somatic				DLG5_ENST00000372388.2_Missense_Mutation_p.R499Q	p.R499Q	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)		8	1501	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		499					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.1496G>A	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	C	35	5.587910	0.96590	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.06142	3.34;3.4	5.8	5.8	0.92144	.	0.000000	0.31648	N	0.007282	T	0.26521	0.0648	M	0.65975	2.015	0.43588	D	0.99593	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.996;0.99	T	0.00066	-1.2144	10	0.62326	D	0.03	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	389;499;499	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	Q	499	ENSP00000361467:R499Q;ENSP00000361464:R499Q	ENSP00000361464:R499Q	R	-	2	0	DLG5	79265628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.735000	0.93741	0.655000	0.94253	CGA		0.597	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			20	52	0	0	0	1	0	20	52					T	79595622	C	T	79595622	3	4	48	1	0	0	0	0	1	0	0	0	4560	884	31	1	4363	1	DLG5	10	79595622	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	727298	79595622	55939125	2497	6965										
NRG3	10718	broad.mit.edu	37	chr10	84745314	84745314	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatcagaacgagaggcgcaaTttgtcttaagaaatgaaata	9	5	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:84745314T>A	ENST00000404547.1	+	10	2116	c.2116T>A	c.(2116-2118)Ttt>Att	p.F706I	NRG3_ENST00000404576.2_Missense_Mutation_p.F486I|NRG3_ENST00000537893.1_Missense_Mutation_p.F332I|NRG3_ENST00000372142.2_Missense_Mutation_p.F485I|NRG3_ENST00000556918.1_Missense_Mutation_p.F512I|NRG3_ENST00000545131.1_Missense_Mutation_p.F332I|NRG3_ENST00000372141.2_Missense_Mutation_p.F682I			P56975	NRG3_HUMAN	neuregulin 3	706					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGAGGCGCAATTTGTCTTAAG	0.468																																						ENST00000372142.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1453-1455)Ttt>Att		neuregulin 3							76	74	75					10																	84745314		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84745314T>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2116T>A	10.37:g.84745314T>A	ENSP00000384796:p.Phe706Ile		Somatic				NRG3_ENST00000556918.1_Missense_Mutation_p.F512I|NRG3_ENST00000372141.2_Missense_Mutation_p.F682I|NRG3_ENST00000404576.2_Missense_Mutation_p.F486I|NRG3_ENST00000545131.1_Missense_Mutation_p.F332I|NRG3_ENST00000537893.1_Missense_Mutation_p.F332I|NRG3_ENST00000404547.1_Missense_Mutation_p.F706I	p.F485I	NM_001165973.1	NP_001159445.1	WXS	Illumina GAIIx	Phase_I	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	11	1727	+			706					A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.1453T>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.770935	0.49680	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.62788	0.65;0.51;0.56;0.0;0.57;0.19;0.19	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000001	T	0.73187	0.3555	L	0.50333	1.59	0.48762	D	0.999703	P;P;D;P	0.61080	0.952;0.952;0.989;0.952	P;P;D;P	0.75020	0.487;0.487;0.985;0.487	T	0.75975	-0.3128	10	0.87932	D	0	-30.4854	13.2219	0.59892	0.0:0.0:0.0:1.0	.	681;706;485;682	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	I	682;706;681;485;486;512;332;332	ENSP00000361214:F682I;ENSP00000384796:F706I;ENSP00000361215:F485I;ENSP00000385804:F486I;ENSP00000451376:F512I;ENSP00000441201:F332I;ENSP00000440377:F332I	ENSP00000361214:F682I	F	+	1	0	NRG3	84735294	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.816000	0.55658	2.076000	0.62316	0.482000	0.46254	TTT		0.468	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		32	51	0	0	0	1	0	32	51					A	84745314	T	A	84745314	3	1	48	1	0	0	0	0	1	0	0	0	10658	1493	52	4	2322	4	NRG3	10	84745314	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	5149692	84745314	50789433	2498	6966										
GRID1	2894	broad.mit.edu	37	chr10	87362273	87362273	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgctctgctctggcagaaaGgtgctgaccgagagctgggt	15	10	2	3	rs528465783		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:87362273G>T	ENST00000327946.7	-	16	2872	c.2787C>A	c.(2785-2787)acC>acA	p.T929T	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Silent_p.T500T|RP11-93H12.2_ENST00000443311.1_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	929					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						CTGGCAGAAAGGTGCTGACCG	0.662										Multiple Myeloma(13;0.14)			G|||	1	0.000199681	0	0	5008	,	,		12210	0		0	False		,,,				2504	0.001					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.(2785-2787)acC>acA		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						59	55	56					10																	87362273		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.chr10:87362273G>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.2787C>A	10.37:g.87362273G>T		Multiple Myeloma(13;0.14)	Somatic				GRID1_ENST00000536331.1_Silent_p.T500T|GRID1_ENST00000552278.2_5'UTR	p.T929T	NM_017551.2	NP_060021.1	WXS	Illumina GAIIx	Phase_I	Q9ULK0	GRID1_HUMAN			16	2872	-			929					B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.2787C>A	CCDS31236.1																																																																																				0.662	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		7	56	1	0	0.00198382	1	0.00207034	7	56					T	87362273	G	T	87362273	2	4	48	1	0	0	0	0	0	0	0	1	6780	987	35	5		5	GRID1	10	87362273	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2616959	87362273	48172474	2499	6967										
GRID1	2894	broad.mit.edu	37	chr10	87484239	87484239	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacacaaatatcagcacaccAaccacagggatggctgctgc	8	13	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:87484239A>G	ENST00000327946.7	-	11	1813	c.1728T>C	c.(1726-1728)gtT>gtC	p.V576V	GRID1_ENST00000536331.1_Silent_p.V147V	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	576					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						TCAGCACACCAACCACAGGGA	0.532										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.(1726-1728)gtT>gtC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						76	70	72					10																	87484239		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.chr10:87484239A>G	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.1728T>C	10.37:g.87484239A>G		Multiple Myeloma(13;0.14)	Somatic				GRID1_ENST00000536331.1_Silent_p.V147V	p.V576V	NM_017551.2	NP_060021.1	WXS	Illumina GAIIx	Phase_I	Q9ULK0	GRID1_HUMAN			11	1813	-			576					B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.1728T>C	CCDS31236.1																																																																																				0.532	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		24	51	0	0	0	1	0	24	51					G	87484239	A	G	87484239	2	3	48	1	0	0	0	0	0	0	0	1	6780	117	5	4		4	GRID1	10	87484239	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	121966	87484239	48050508	2500	6968										
GRID1	2894	broad.mit.edu	37	chr10	87614322	87614322	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaaactggacatagggattCgaactgtcctcccgaaactc	8	12	1	0	rs542721749		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:87614322C>T	ENST00000327946.7	-	8	1249	c.1164G>A	c.(1162-1164)tcG>tcA	p.S388S		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	388					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						CATAGGGATTCGAACTGTCCT	0.488										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.(1162-1164)tcG>tcA		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						140	125	130					10																	87614322		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.chr10:87614322C>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.1164G>A	10.37:g.87614322C>T		Multiple Myeloma(13;0.14)	Somatic					p.S388S	NM_017551.2	NP_060021.1	WXS	Illumina GAIIx	Phase_I	Q9ULK0	GRID1_HUMAN			8	1249	-			388					B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.1164G>A	CCDS31236.1																																																																																				0.488	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		29	53	0	0	0	1	0	29	53					T	87614322	C	T	87614322	2	4	48	1	0	0	0	0	0	0	0	1	6780	871	31	1		1	GRID1	10	87614322	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	130083	87614322	47920425	2501	6969										
WAPAL	23063	broad.mit.edu	37	chr10	88277381	88277381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgcatcatcttctacaattCggtttgtgctcttttctttc	5	10	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:88277381C>T	ENST00000298767.5	-	2	918	c.446G>A	c.(445-447)cGa>cAa	p.R149Q		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	149	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						TTCTACAATTCGGTTTGTGCT	0.368																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(445-447)cGa>cAa		wings apart-like homolog (Drosophila)							129	122	124					10																	88277381		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.chr10:88277381C>T	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.446G>A	10.37:g.88277381C>T	ENSP00000298767:p.Arg149Gln		Somatic					p.R149Q	NM_015045.2	NP_055860.1	WXS	Illumina GAIIx	Phase_I	Q7Z5K2	WAPL_HUMAN			2	918	-			149			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.446G>A	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417448	0.42918	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.22743	1.94	5.42	5.42	0.78866	.	0.629278	0.14017	N	0.347074	T	0.16428	0.0395	L	0.40543	1.245	0.80722	D	1	P;P;P;P	0.48230	0.907;0.553;0.553;0.681	B;B;B;B	0.36666	0.23;0.036;0.036;0.08	T	0.02345	-1.1173	10	0.66056	D	0.02	.	9.5354	0.39220	0.0:0.8386:0.0:0.1614	.	234;149;149;192	Q7Z5K2-3;B2RTX8;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	Q	234;149;234	ENSP00000298767:R149Q	ENSP00000298767:R149Q	R	-	2	0	WAPAL	88267361	0.944000	0.32072	0.369000	0.25952	0.981000	0.71138	2.125000	0.42016	2.550000	0.86006	0.655000	0.94253	CGA		0.368	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		16	51	0	0	0	1	0	16	51					T	88277381	C	T	88277381	3	4	48	1	0	0	0	0	1	0	0	0	17263	884	31	1	3198	1	WAPAL	10	88277381	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	663059	88277381	47257366	2502	6970										
SNCG	6623	broad.mit.edu	37	chr10	88719763	88719763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtgtcctcccatagtggccGagaagaccaaggagcaggcc	13	12	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:88719763G>A	ENST00000372017.3	+	3	211	c.169G>A	c.(169-171)Gag>Aag	p.E57K	SNCG_ENST00000348795.4_Missense_Mutation_p.R74Q|MMRN2_ENST00000372027.5_5'Flank|SNCG_ENST00000483064.1_3'UTR	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	57	4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).				adult locomotory behavior (GO:0008344)|aggressive behavior (GO:0002118)|cellular response to hydrostatic pressure (GO:0071464)|protein secretion (GO:0009306)|regulation of dopamine secretion (GO:0014059)|regulation of neurotransmitter secretion (GO:0046928)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				endometrium(1)|skin(1)	2						CATAGTGGCCGAGAAGACCAA	0.667																																						ENST00000372017.3																			0				endometrium(1)|skin(1)	2						c.(169-171)Gag>Aag		synuclein, gamma (breast cancer-specific protein 1)							70	55	60					10																	88719763		2196	4298	6494	SO:0001583	missense	6623					microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding	g.chr10:88719763G>A	AF044311	CCDS7380.1	10q23.2-q23.3	2006-06-28			ENSG00000173267	ENSG00000173267			11141	protein-coding gene	gene with protein product	"synoretin"	602998				9044857, 9700196	Standard	NM_003087		Approved	BCSG1, SR, persyn	uc001keb.2	O76070	OTTHUMG00000018656	ENST00000372017.3:c.169G>A	10.37:g.88719763G>A	ENSP00000361087:p.Glu57Lys		Somatic				SNCG_ENST00000483064.1_3'UTR|SNCG_ENST00000348795.4_Missense_Mutation_p.R74Q	p.E57K	NM_003087.2	NP_003078.2	WXS	Illumina GAIIx	Phase_I	O76070	SYUG_HUMAN			3	211	+			57			4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).		O15104|Q96P61	Missense_Mutation	SNP	ENST00000372017.3	37	c.169G>A	CCDS7380.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.354163|4.354163	0.82243|0.82243	.|.	.|.	ENSG00000173267|ENSG00000173267	ENST00000372017|ENST00000348795	D|D	0.87650|0.88431	-2.28|-2.38	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.215575|.	0.48286|.	D|.	0.000196|.	D|D	0.94079|0.94079	0.8102|0.8102	M|M	0.82517|0.82517	2.595|2.595	0.43426|0.43426	D|D	0.995586|0.995586	D|.	0.58970|.	0.984|.	B|.	0.43274|.	0.414|.	D|D	0.94850|0.94850	0.8013|0.8013	10|7	0.66056|0.87932	D|D	0.02|0	-0.8935|-0.8935	17.0709|17.0709	0.86573|0.86573	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	57|.	O76070|.	SYUG_HUMAN|.	K|Q	57|74	ENSP00000361087:E57K|ENSP00000344658:R74Q	ENSP00000361087:E57K|ENSP00000344658:R74Q	E|R	+|+	1|2	0|0	SNCG|SNCG	88709743|88709743	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.794000|0.794000	0.44872|0.44872	2.742000|2.742000	0.47434|0.47434	2.548000|2.548000	0.85928|0.85928	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.667	SNCG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049167.1			7	9	0	0	0	1	0	7	9					A	88719763	G	A	88719763	3	1	48	1	0	0	0	0	1	0	0	0	14858	1059	37	1	179	1	SNCG	10	88719763	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	442382	88719763	46814984	2503	6971										
AGAP11	119385	broad.mit.edu	37	chr10	88768826	88768826	+	RNA	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcactgctgaggaagaagaaGaaaagtttatgattgtgtcc	12	5	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:88768826G>T	ENST00000444431.1	+	0	3426				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_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)										GGAAGAAGAAGAAAAGTTTAT	0.493																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							78	88	85					10																	88768826		2202	4299	6501			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768826G>T			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768826G>T			Somatic				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				WXS	Illumina GAIIx	Phase_I	Q8TF27	AGA11_HUMAN			0	3426	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.493	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		65	122	1	0	4.09106e-26	1	5.77846e-26	65	122					T	88768826	G	T	88768826	1	4	48	0	1	0	0	0	0	0	0	0	367	943	33	2		2	AGAP11	10	88768826	RNA	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	49063	88768826	46765921	2504	6972										
PTEN	5728	broad.mit.edu	37	chr10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtaaagctggaaagggacGaactggtgtaatgatatgtg	14	4	0	1	rs121913292|rs121909229		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		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.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(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)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	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	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	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"		151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|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	CM981670|CM991081	PTEN	M	rs121909229	c.(388-390)cGa>cAa		phosphatase and tensin homolog							139	129	133					10																	89692905		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.chr10:89692905G>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.389G>A	10.37:g.89692905G>A	ENSP00000361021:p.Arg130Gln	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic					p.R130Q	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	1746	+		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)	130		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.389G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	36	5.637233	0.96693	.	.	ENSG00000171862	ENST00000371953	D	0.98345	-4.88	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.96889	3.9	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98503	1.0615	8	.	.	.	-1.7685	18.7776	0.91918	0.0:0.0:1.0:0.0	.	130	P60484	PTEN_HUMAN	Q	130	ENSP00000361021:R130Q	.	R	+	2	0	PTEN	89682885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		39	63	0	0	0	1	0	39	63					A	89692905	G	A	89692905	3	1	48	1	0	0	0	0	1	0	0	0	12750	1058	37	1	407	1	PTEN	10	89692905	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	924079	89692905	45841842	2505	6973										
PTEN	5728	broad.mit.edu	37	chr10	89711983	89711983	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtttcacaagatgatgtttGaaactattccaatgttcagt	7	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:89711983G>T	ENST00000371953.3	+	6	1958	c.601G>T	c.(601-603)Gaa>Taa	p.E201*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	201	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.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.F200fs*21(2)|p.G165_*404del(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)		GATGATGTTTGAAACTATTCC	0.373		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(10)|Unknown(4)|Insertion - Frameshift(2)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.F200fs*21(2)|p.G165_*404del(1)	prostate(16)|central_nervous_system(13)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|endometrium(2)|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.(601-603)Gaa>Taa		phosphatase and tensin homolog							152	150	151					10																	89711983		2203	4300	6503	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.chr10:89711983G>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.601G>T	10.37:g.89711983G>T	ENSP00000361021:p.Glu201*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic				PTEN_ENST00000472832.1_3'UTR	p.E201*	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	1958	+		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)	201			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.601G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	50	16.836311	0.99873	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.85	5.85	0.93711	.	0.137321	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.8519	20.1698	0.98157	0.0:0.0:1.0:0.0	.	.	.	.	X	201	.	.	E	+	1	0	PTEN	89701963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.370000	0.97159	2.777000	0.95525	0.585000	0.79938	GAA		0.373	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		40	62	1	0	1.07121e-22	1	1.49242e-22	40	62					T	89711983	G	T	89711983	4	4	48	1	0	0	0	0	0	1	0	0	12750	1291	45	2	623	2	PTEN	10	89711983	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	19078	89711983	45822764	2506	6974										
PTEN	5728	broad.mit.edu	37	chr10	89720871	89720871	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgatacttttctccaaattTtaaggtcagttaaattaaac	4	8	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:89720871T>G	ENST00000371953.3	+	8	2379	c.1022T>G	c.(1021-1023)tTt>tGt	p.F341C	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	341	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		F -> V (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.F341C(1)|p.W274_F341del(1)|p.S338fs*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)		TCTCCAAATTTTAAGGTCAGT	0.338		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(10)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.F341C(1)|p.W274_F341del(1)|p.S338fs*1(1)|p.D326_K342del(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|breast(4)|haematopoietic_and_lymphoid_tissue(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.(1021-1023)tTt>tGt		phosphatase and tensin homolog							46	49	48					10																	89720871		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.chr10:89720871T>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.1022T>G	10.37:g.89720871T>G	ENSP00000361021:p.Phe341Cys	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic				PTEN_ENST00000472832.1_3'UTR	p.F341C	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	2379	+		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)	341		F -> V (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.1022T>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.480930	0.84747	.	.	ENSG00000171862	ENST00000371953	D	0.89123	-2.47	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	0.94955	0.8368	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95406	0.8494	9	.	.	.	-5.5938	15.3536	0.74409	0.0:0.0:0.0:1.0	.	341	P60484	PTEN_HUMAN	C	341	ENSP00000361021:F341C	.	F	+	2	0	PTEN	89710851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.614000	0.82996	2.034000	0.60081	0.482000	0.46254	TTT		0.338	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		16	33	0	0	0	1	0	16	33					G	89720871	T	G	89720871	3	3	48	1	0	0	0	0	1	0	0	0	12750	1841	64	4	1052	4	PTEN	10	89720871	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	8888	89720871	45813876	2507	6975										
LIPJ	142910	broad.mit.edu	37	chr10	90356596	90356596	+	Missense_Mutation	SNP	T	T	G													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaaacctcatttaaaaaatTcattggttcaaagctgtgtc							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:90356596T>G	ENST00000371939.3	+	8	940	c.626T>G	c.(625-627)tTc>tGc	p.F209C		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	209					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TTTAAAAAATTCATTGGTTCA	0.308																																						ENST00000371939.3																			0				large_intestine(4)|lung(4)|ovary(1)	9						c.(625-627)tTc>tGc		lipase, family member J							73	86	82					10																	90356596		2202	4294	6496	SO:0001583	missense	142910				lipid catabolic process		hydrolase activity	g.chr10:90356596T>G	BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"lipase-like, ab-hydrolase domain containing 1", "lipase, family member J"	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.626T>G	10.37:g.90356596T>G	ENSP00000361007:p.Phe209Cys		Somatic					p.F209C	NM_001010939.2	NP_001010939.2	WXS	Illumina GAIIx	Phase_I	Q5W064	LIPJ_HUMAN		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)	8	940	+		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)	209					A8MT98|Q0P671	Missense_Mutation	SNP	ENST00000371939.3	37	c.626T>G	CCDS31240.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.465583	0.26335	.	.	ENSG00000204022	ENST00000371939	T	0.62232	0.04	4.12	2.97	0.34412	Alpha/beta hydrolase fold-1 (1);	0.000000	0.43919	D	0.000504	T	0.74741	0.3756	M	0.86502	2.82	0.09310	N	1	D	0.76494	0.999	D	0.69654	0.965	T	0.63400	-0.6646	10	0.38643	T	0.18	-11.8555	3.7696	0.08636	0.0:0.2:0.1894:0.6105	.	209	Q5W064	LIPJ_HUMAN	C	209	ENSP00000361007:F209C	ENSP00000361007:F209C	F	+	2	0	LIPJ	90346576	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.402000	0.20965	0.735000	0.32537	-0.386000	0.06593	TTC		0.308	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049248.2	XM_084377		13	47	0	0	0	1	0	13	47					G	90356596	T	G	90356596	3	3	48	1	0	0	0	0	1	0	0	0	8835	1783	62	4	648	4	LIPJ	10	90356596	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	635725	90356596	45178151	2508	6976	19	2								
LIPJ	142910	broad.mit.edu	37	chr10	90356597	90356597	+	Silent	SNP	C	C	T													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaacctcatttaaaaaattCattggttcaaagctgtgtcc							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:90356597C>T	ENST00000371939.3	+	8	941	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	209					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TTAAAAAATTCATTGGTTCAA	0.308																																						ENST00000371939.3																			0				large_intestine(4)|lung(4)|ovary(1)	9						c.(625-627)ttC>ttT		lipase, family member J							73	86	81					10																	90356597		2202	4295	6497	SO:0001819	synonymous_variant	142910				lipid catabolic process		hydrolase activity	g.chr10:90356597C>T	BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"lipase-like, ab-hydrolase domain containing 1", "lipase, family member J"	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.627C>T	10.37:g.90356597C>T			Somatic					p.F209F	NM_001010939.2	NP_001010939.2	WXS	Illumina GAIIx	Phase_I	Q5W064	LIPJ_HUMAN		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)	8	941	+		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)	209					A8MT98|Q0P671	Silent	SNP	ENST00000371939.3	37	c.627C>T	CCDS31240.1																																																																																				0.308	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049248.2	XM_084377		14	46	0	0	0	1	0	14	46					T	90356597	C	T	90356597	2	4	48	1	0	0	0	0	0	0	0	1	8835	825	29	3		3	LIPJ	10	90356597	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1	90356597	45178150	2509	6977	19	2								
LIPK	643414	broad.mit.edu	37	chr10	90497470	90497470	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaaagtgtgcaatcgaaagCtattccgtcgtatttgcagc	9	10	0	0	rs573862404		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:90497470C>T	ENST00000404190.1	+	6	748	c.748C>T	c.(748-750)Cta>Tta	p.L250L		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	250					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CAATCGAAAGCTATTCCGTCG	0.383																																						ENST00000404190.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12						c.(748-750)Cta>Tta		lipase, family member K							223	207	212					10																	90497470		1877	4112	5989	SO:0001819	synonymous_variant	643414				lipid catabolic process	extracellular region	hydrolase activity	g.chr10:90497470C>T		CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"lipase-like, ab-hydrolase domain containing 2"	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.748C>T	10.37:g.90497470C>T			Somatic					p.L250L	NM_001080518.1	NP_001073987.1	WXS	Illumina GAIIx	Phase_I	Q5VXJ0	LIPK_HUMAN		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)	6	748	+		Colorectal(252;0.0381)	250					A7KIH8	Silent	SNP	ENST00000404190.1	37	c.748C>T	CCDS44455.1																																																																																				0.383	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222		30	72	0	0	0	1	0	30	72					T	90497470	C	T	90497470	2	4	48	1	0	0	0	0	0	0	0	1	8836	796	28	3		3	LIPK	10	90497470	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	140873	90497470	45037277	2510	6978										
IFIT2	3433	broad.mit.edu	37	chr10	91065810	91065810	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agggagaaaactccttggatGattttgaagacaaagtattt	10	4	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91065810G>T	ENST00000371826.3	+	2	266	c.97G>T	c.(97-99)Gat>Tat	p.D33Y	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	33					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)				CTCCTTGGATGATTTTGAAGA	0.433																																						ENST00000371826.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12						c.(97-99)Gat>Tat		interferon-induced protein with tetratricopeptide repeats 2							74	77	76					10																	91065810		1975	4181	6156	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91065810G>T	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"Tetratricopeptide (TTC) repeat domain containing"	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.97G>T	10.37:g.91065810G>T	ENSP00000360891:p.Asp33Tyr		Somatic				LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	p.D33Y	NM_001547.4	NP_001538.4	WXS	Illumina GAIIx	Phase_I	P09913	IFIT2_HUMAN			2	266	+		Colorectal(252;0.0161)	33					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.97G>T	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822027	0.50739	.	.	ENSG00000119922	ENST00000371826	T	0.44083	0.93	5.11	0.0691	0.14372	.	0.631714	0.15511	U	0.258539	T	0.38506	0.1043	M	0.73598	2.24	0.09310	N	1	P	0.40476	0.718	B	0.39185	0.293	T	0.27468	-1.0073	10	0.54805	T	0.06	-5.8536	5.8378	0.18617	0.4215:0.1327:0.4458:0.0	.	33	P09913	IFIT2_HUMAN	Y	33	ENSP00000360891:D33Y	ENSP00000360891:D33Y	D	+	1	0	IFIT2	91055790	0.334000	0.24739	0.379000	0.26080	0.896000	0.52359	0.155000	0.16362	0.128000	0.18479	0.655000	0.94253	GAT		0.433	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		20	39	1	0	4.96729e-08	1	5.79844e-08	20	39					T	91065810	G	T	91065810	3	4	48	1	0	0	0	0	1	0	0	0	7532	1290	45	2	103	2	IFIT2	10	91065810	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	568340	91065810	44468937	2511	6979										
IFIT1	3434	broad.mit.edu	37	chr10	91162430	91162430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagctttcaaatcccttccGctatagaatggagtgtccag	9	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91162430G>A	ENST00000371804.3	+	2	565	c.398G>A	c.(397-399)cGc>cAc	p.R133H	IFIT1_ENST00000546318.1_Missense_Mutation_p.R102H|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	133					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AATCCCTTCCGCTATAGAATG	0.473																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(304-306)cGc>cAc		interferon-induced protein with tetratricopeptide repeats 1							56	57	56					10																	91162430		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.chr10:91162430G>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.398G>A	10.37:g.91162430G>A	ENSP00000360869:p.Arg133His		Somatic				IFIT1_ENST00000371804.3_Missense_Mutation_p.R133H|LIPA_ENST00000371837.1_Intron	p.R102H	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	1592	+			133					B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	c.305G>A	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	G	3.684	-0.064989	0.07273	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.14640	2.49;2.49	5.35	1.3	0.21679	Tetratricopeptide-like helical (1);	0.867295	0.10335	N	0.686981	T	0.12008	0.0292	L	0.53249	1.67	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.06405	0.002;0.002	T	0.34675	-0.9819	10	0.28530	T	0.3	.	4.5654	0.12184	0.3448:0.0:0.504:0.1512	.	133;133	Q5T7J1;P09914	.;IFIT1_HUMAN	H	133;102	ENSP00000360869:R133H;ENSP00000441968:R102H	ENSP00000360869:R133H	R	+	2	0	IFIT1	91152410	0.000000	0.05858	0.006000	0.13384	0.158000	0.22134	-0.079000	0.11357	0.307000	0.22880	0.563000	0.77884	CGC		0.473	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		21	51	0	0	0	1	0	21	51					A	91162430	G	A	91162430	3	1	48	1	0	0	0	0	1	0	0	0	7530	1087	38	1	404	1	IFIT1	10	91162430	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	96620	91162430	44372317	2512	6980										
IFIT5	24138	broad.mit.edu	37	chr10	91178049	91178049	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggacattttccggaaagctCttcgtctggagaacataacc	9	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91178049C>A	ENST00000371795.4	+	2	1306	c.1093C>A	c.(1093-1095)Ctt>Att	p.L365I	IFIT5_ENST00000416601.1_Missense_Mutation_p.L317I	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	365					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						CCGGAAAGCTCTTCGTCTGGA	0.458																																						ENST00000371795.4																			0				endometrium(1)|large_intestine(4)|lung(4)	9						c.(1093-1095)Ctt>Att		interferon-induced protein with tetratricopeptide repeats 5							77	70	72					10																	91178049		2203	4300	6503	SO:0001583	missense	24138						binding	g.chr10:91178049C>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.1093C>A	10.37:g.91178049C>A	ENSP00000360860:p.Leu365Ile		Somatic				IFIT5_ENST00000416601.1_Missense_Mutation_p.L317I	p.L365I	NM_012420.2	NP_036552.1	WXS	Illumina GAIIx	Phase_I	Q13325	IFIT5_HUMAN			2	1306	+			365					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	c.1093C>A	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252997	0.39797	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;T	0.71103	-0.54;-0.54	5.66	4.74	0.60224	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.197545	0.45126	D	0.000388	T	0.76026	0.3930	L	0.58669	1.825	0.33770	D	0.622915	D;D	0.71674	0.998;0.998	D;D	0.71870	0.975;0.975	T	0.74881	-0.3513	10	0.13470	T	0.59	-12.0395	9.0759	0.36522	0.1437:0.7812:0.0:0.075	.	365;317	Q13325;B4DDV1	IFIT5_HUMAN;.	I	365;317	ENSP00000360860:L365I;ENSP00000414042:L317I	ENSP00000360860:L365I	L	+	1	0	IFIT5	91168029	0.012000	0.17670	0.996000	0.52242	0.125000	0.20455	0.250000	0.18235	2.665000	0.90641	0.655000	0.94253	CTT		0.458	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		7	54	1	0	0.00198382	1	0.00207034	7	54					A	91178049	C	A	91178049	3	1	48	1	0	0	0	0	1	0	0	0	7534	913	32	2	1099	2	IFIT5	10	91178049	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	15619	91178049	44356698	2513	6981										
KIF20B	9585	broad.mit.edu	37	chr10	91468967	91468967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttatctccaggtttgtcttcGaataagaccatttacacagt	6	9	2	1	rs201280490		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91468967G>A	ENST00000371728.3	+	3	256	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	KIF20B_ENST00000394289.2_Missense_Mutation_p.R64Q|KIF20B_ENST00000416354.1_Missense_Mutation_p.R64Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.R64Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	64	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GTTTGTCTTCGAATAAGACCA	0.294													G|||	1	0.000199681	8e-04	0	5008	,	,		16367	0		0	False		,,,				2504	0					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.(190-192)cGa>cAa		kinesin family member 20B							52	57	56					10																	91468967		2202	4298	6500	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91468967G>A	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.191G>A	10.37:g.91468967G>A	ENSP00000360793:p.Arg64Gln		Somatic				KIF20B_ENST00000394289.2_Missense_Mutation_p.R64Q|KIF20B_ENST00000371728.3_Missense_Mutation_p.R64Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.R64Q	p.R64Q			WXS	Illumina GAIIx	Phase_I	Q96Q89	KI20B_HUMAN			3	263	+			64			Kinesin-motor.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.191G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	32	5.139219	0.94560	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656;ENST00000447580	D;D;D;D;T	0.86432	-2.12;-2.12;-2.12;-2.12;0.73	5.46	5.46	0.80206	Kinesin, motor domain (4);	0.000000	0.40554	N	0.001063	D	0.95692	0.8599	H	0.94886	3.595	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96343	0.9252	10	0.72032	D	0.01	-9.2928	19.6713	0.95912	0.0:0.0:1.0:0.0	.	64;64	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	Q	64	ENSP00000260753:R64Q;ENSP00000411545:R64Q;ENSP00000377830:R64Q;ENSP00000360793:R64Q;ENSP00000390946:R64Q	ENSP00000260753:R64Q	R	+	2	0	KIF20B	91458947	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.378000	0.79679	2.710000	0.92621	0.655000	0.94253	CGA		0.294	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		9	44	0	0	0	1	0	9	44					A	91468967	G	A	91468967	3	1	48	1	0	0	0	0	1	0	0	0	8296	1058	37	1	197	1	KIF20B	10	91468967	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	290918	91468967	44065780	2514	6982										
KIF20B	9585	broad.mit.edu	37	chr10	91470748	91470748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaatattggcattctgcctcGaactttgaatgtattatttg	7	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91470748G>A	ENST00000371728.3	+	6	586	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	KIF20B_ENST00000394289.2_Missense_Mutation_p.R174Q|KIF20B_ENST00000416354.1_Missense_Mutation_p.R174Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.R174Q	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	174	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATTCTGCCTCGAACTTTGAAT	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.(520-522)cGa>cAa		kinesin family member 20B							59	60	59					10																	91470748		2202	4298	6500	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91470748G>A	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.521G>A	10.37:g.91470748G>A	ENSP00000360793:p.Arg174Gln		Somatic				KIF20B_ENST00000394289.2_Missense_Mutation_p.R174Q|KIF20B_ENST00000371728.3_Missense_Mutation_p.R174Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.R174Q	p.R174Q			WXS	Illumina GAIIx	Phase_I	Q96Q89	KI20B_HUMAN			6	593	+			174			Kinesin-motor.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.521G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.578743	0.96565	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656;ENST00000447580	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;1.96	5.43	5.43	0.79202	Kinesin, motor domain (4);	0.000000	0.41001	D	0.000975	D	0.86264	0.5891	M	0.71920	2.185	0.80722	D	1	D;D	0.89917	1.0;0.992	D;P	0.87578	0.998;0.871	D	0.87391	0.2363	10	0.87932	D	0	-10.3216	19.2227	0.93805	0.0:0.0:1.0:0.0	.	174;174	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	Q	174	ENSP00000260753:R174Q;ENSP00000411545:R174Q;ENSP00000377830:R174Q;ENSP00000360793:R174Q;ENSP00000390946:R174Q	ENSP00000260753:R174Q	R	+	2	0	KIF20B	91460728	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.054000	0.93866	2.532000	0.85374	0.655000	0.94253	CGA		0.328	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		6	21	0	0	0	1	0	6	21					A	91470748	G	A	91470748	3	1	48	1	0	0	0	0	1	0	0	0	8296	1058	37	1	539	1	KIF20B	10	91470748	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1781	91470748	44063999	2515	6983										
KIF20B	9585	broad.mit.edu	37	chr10	91478603	91478603	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgatgaaacactcaatgtaTtgaagttctccgccattgca	7	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91478603T>C	ENST00000371728.3	+	12	1473	c.1408T>C	c.(1408-1410)Ttg>Ctg	p.L470L	KIF20B_ENST00000394289.2_Silent_p.L470L|KIF20B_ENST00000416354.1_Silent_p.L470L|KIF20B_ENST00000260753.4_Silent_p.L470L	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	470	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACTCAATGTATTGAAGTTCTC	0.254																																						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.(1408-1410)Ttg>Ctg		kinesin family member 20B							48	52	50					10																	91478603		2202	4298	6500	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.chr10:91478603T>C	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.1408T>C	10.37:g.91478603T>C			Somatic				KIF20B_ENST00000394289.2_Silent_p.L470L|KIF20B_ENST00000371728.3_Silent_p.L470L|KIF20B_ENST00000260753.4_Silent_p.L470L	p.L470L			WXS	Illumina GAIIx	Phase_I	Q96Q89	KI20B_HUMAN			12	1480	+			470					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.1408T>C																																																																																					0.254	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		14	20	0	0	0	1	0	14	20					C	91478603	T	C	91478603	2	2	48	1	0	0	0	0	0	0	0	1	8296	1490	52	4		4	KIF20B	10	91478603	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	7855	91478603	44056144	2516	6984										
KIF20B	9585	broad.mit.edu	37	chr10	91479274	91479274	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacagtaattcaaacagtaaAatattaaatgtaaaaagagc	6	4	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91479274A>C	ENST00000371728.3	+	13	1598	c.1533A>C	c.(1531-1533)aaA>aaC	p.K511N	KIF20B_ENST00000394289.2_Missense_Mutation_p.K511N|KIF20B_ENST00000416354.1_Missense_Mutation_p.K511N|KIF20B_ENST00000260753.4_Missense_Mutation_p.K511N	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	511					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						CAAACAGTAAAATATTAAATG	0.353																																						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.(1531-1533)aaA>aaC		kinesin family member 20B							38	41	40					10																	91479274		2202	4300	6502	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91479274A>C	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.1533A>C	10.37:g.91479274A>C	ENSP00000360793:p.Lys511Asn		Somatic				KIF20B_ENST00000394289.2_Missense_Mutation_p.K511N|KIF20B_ENST00000371728.3_Missense_Mutation_p.K511N|KIF20B_ENST00000260753.4_Missense_Mutation_p.K511N	p.K511N			WXS	Illumina GAIIx	Phase_I	Q96Q89	KI20B_HUMAN			13	1605	+			511					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.1533A>C		.	.	.	.	.	.	.	.	.	.	A	12.58	1.980543	0.34942	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000035	T	0.54663	0.1872	M	0.71581	2.175	0.34033	D	0.654078	P;D	0.71674	0.539;0.998	B;D	0.66351	0.132;0.943	T	0.64118	-0.6482	10	0.20046	T	0.44	-28.3628	6.6667	0.23044	0.7657:0.1552:0.079:0.0	.	511;511	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	N	511	ENSP00000260753:K511N;ENSP00000411545:K511N;ENSP00000377830:K511N;ENSP00000360793:K511N	ENSP00000260753:K511N	K	+	3	2	KIF20B	91469254	1.000000	0.71417	0.964000	0.40570	0.125000	0.20455	3.322000	0.52007	2.054000	0.61138	0.377000	0.23210	AAA		0.353	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		11	20	0	0	0	1	0	11	20					C	91479274	A	C	91479274	3	2	48	1	0	0	0	0	1	0	0	0	8296	11	1	4	1579	4	KIF20B	10	91479274	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	671	91479274	44055473	2517	6985										
KIF20B	9585	broad.mit.edu	37	chr10	91488915	91488915	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacagaatcaaagaattaaaGaattgataaatataattgat	5	3	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91488915G>T	ENST00000371728.3	+	18	2367	c.2302G>T	c.(2302-2304)Gaa>Taa	p.E768*	KIF20B_ENST00000394289.2_Nonsense_Mutation_p.E768*|KIF20B_ENST00000416354.1_Nonsense_Mutation_p.E768*|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Nonsense_Mutation_p.E728*	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	768					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						AAGAATTAAAGAATTGATAAA	0.239																																						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.(2302-2304)Gaa>Taa		kinesin family member 20B							17	19	18					10																	91488915		2088	4152	6240	SO:0001587	stop_gained	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.chr10:91488915G>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.2302G>T	10.37:g.91488915G>T	ENSP00000360793:p.Glu768*		Somatic				KIF20B_ENST00000394289.2_Nonsense_Mutation_p.E768*|KIF20B_ENST00000371728.3_Nonsense_Mutation_p.E768*|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Nonsense_Mutation_p.E728*	p.E768*			WXS	Illumina GAIIx	Phase_I	Q96Q89	KI20B_HUMAN			18	2374	+			768					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Nonsense_Mutation	SNP	ENST00000371728.3	37	c.2302G>T		.	.	.	.	.	.	.	.	.	.	G	36	5.687131	0.96784	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656	.	.	.	3.91	3.91	0.45181	.	0.202906	0.24001	N	0.042477	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	9.5081	0.39060	0.0:0.2162:0.7838:0.0	.	.	.	.	X	728;768;768;768;335	.	ENSP00000260753:E728X	E	+	1	0	KIF20B	91478895	1.000000	0.71417	0.981000	0.43875	0.915000	0.54546	2.780000	0.47742	2.023000	0.59567	0.655000	0.94253	GAA		0.239	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		9	21	1	0	0.0477658	1	0.0484551	9	21					T	91488915	G	T	91488915	4	4	48	1	0	0	0	0	0	1	0	0	8296	943	33	2	2248	2	KIF20B	10	91488915	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	9641	91488915	44045832	2518	6986										
KIF20B	9585	broad.mit.edu	37	chr10	91528529	91528529	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcatctaagaaaacatattCtttacggagtcaggcatcca	6	9	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91528529C>A	ENST00000371728.3	+	31	5191	c.5126C>A	c.(5125-5127)tCt>tAt	p.S1709Y	KIF20B_ENST00000416354.1_Missense_Mutation_p.S1739Y|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.S1669Y	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1709	Interaction with PIN1.				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						AAAACATATTCTTTACGGAGT	0.358																																						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.(5215-5217)tCt>tAt		kinesin family member 20B							96	93	94					10																	91528529		2203	4300	6503	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91528529C>A	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5126C>A	10.37:g.91528529C>A	ENSP00000360793:p.Ser1709Tyr		Somatic				KIF20B_ENST00000371728.3_Missense_Mutation_p.S1709Y|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.S1669Y	p.S1739Y			WXS	Illumina GAIIx	Phase_I	Q96Q89	KI20B_HUMAN			31	5288	+			1709			Interaction with PIN1.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.5216C>A		.	.	.	.	.	.	.	.	.	.	C	15.79	2.937214	0.52972	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.48201	0.82;0.82;0.82	5.7	3.73	0.42828	.	0.000000	0.51477	D	0.000091	T	0.57932	0.2087	L	0.46157	1.445	0.80722	D	1	D;P	0.71674	0.998;0.552	D;B	0.78314	0.991;0.157	T	0.57814	-0.7746	10	0.51188	T	0.08	-9.5763	10.0314	0.42103	0.155:0.6954:0.1495:0.0	.	1709;1669	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	Y	1669;1739;1709	ENSP00000260753:S1669Y;ENSP00000411545:S1739Y;ENSP00000360793:S1709Y	ENSP00000260753:S1669Y	S	+	2	0	KIF20B	91518509	0.990000	0.36364	0.981000	0.43875	0.761000	0.43186	1.532000	0.36029	1.387000	0.46486	0.555000	0.69702	TCT		0.358	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		22	30	1	0	6.33239e-15	1	8.29613e-15	22	30					A	91528529	C	A	91528529	3	1	48	1	0	0	0	0	1	0	0	0	8296	913	32	2	5124	2	KIF20B	10	91528529	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	39614	91528529	44006218	2519	6987										
HECTD2	143279	broad.mit.edu	37	chr10	93258717	93258717	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taccaatcaaaatagaaaagGtaagttaataccctttttaa	4	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:93258717G>A	ENST00000298068.5	+	17	1937		c.e17+1		HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000446394.1_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AATAGAAAAGGTAAGTTAATA	0.274																																					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.e18+1		HECT domain containing E3 ubiquitin protein ligase 2							42	43	43					10																	93258717		2191	4283	6474	SO:0001630	splice_region_variant	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93258717G>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.1843+1G>A	10.37:g.93258717G>A			Somatic				HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site|HECTD2_ENST00000298068.5_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q5U5R9	HECD2_HUMAN			18	1955	+								Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Splice_Site	SNP	ENST00000298068.5	37		CCDS7414.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171810	0.78452	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5019	0.95098	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HECTD2	93248697	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	8.745000	0.91600	2.776000	0.95493	0.650000	0.86243	.		0.274	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1		Intron	12	20	0	0	0	1	0	12	20					A	93258717	G	A	93258717	5	1	48	1	0	0	0	0	0	0	1	0	7049	1275	44	3	1934	3	HECTD2	10	93258717	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1730188	93258717	42276030	2520	6988										
KIF11	3832	broad.mit.edu	37	chr10	94369267	94369267	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgatgaatgcatactctagGtaagaaagccatagtctctt	8	8	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:94369267G>T	ENST00000260731.3	+	6	788		c.e6+1			NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11						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						CATACTCTAGGTAAGAAAGCC	0.413																																					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.e6+1		kinesin family member 11							169	188	182					10																	94369267		2203	4300	6503	SO:0001630	splice_region_variant	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.chr10:94369267G>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.698+1G>T	10.37:g.94369267G>T			Somatic						NM_004523.3	NP_004514.2	WXS	Illumina GAIIx	Phase_I	P52732	KIF11_HUMAN			6	788	+								A0AV49|B2RMV3|Q15716|Q5VWX0	Splice_Site	SNP	ENST00000260731.3	37		CCDS7422.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721222	0.89205	.	.	ENSG00000138160	ENST00000260731	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6745	0.95926	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF11	94359247	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.386000	0.97228	2.880000	0.98712	0.650000	0.86243	.		0.413	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523	Intron	82	180	1	0	3.3814e-41	1	4.88657e-41	82	180					T	94369267	G	T	94369267	5	4	48	1	0	0	0	0	0	0	1	0	8281	1275	44	5	721	5	KIF11	10	94369267	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1110550	94369267	41165480	2521	6989										
KIF11	3832	broad.mit.edu	37	chr10	94397195	94397195	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctcagtatactgtgtaacAatctacatgaactacaagaa	5	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:94397195A>G	ENST00000260731.3	+	16	2143	c.2053A>G	c.(2053-2055)Aat>Gat	p.N685D		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	685					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						ACTGTGTAACAATCTACATGA	0.338																																					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.(2053-2055)Aat>Gat		kinesin family member 11							70	68	69					10																	94397195		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.chr10:94397195A>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.2053A>G	10.37:g.94397195A>G	ENSP00000260731:p.Asn685Asp		Somatic					p.N685D	NM_004523.3	NP_004514.2	WXS	Illumina GAIIx	Phase_I	P52732	KIF11_HUMAN			16	2143	+			685					A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.2053A>G	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.483738	0.26598	.	.	ENSG00000138160	ENST00000260731	T	0.65732	-0.17	5.2	2.62	0.31277	.	0.910817	0.09435	N	0.802631	T	0.45418	0.1341	L	0.27053	0.805	0.27598	N	0.949063	B	0.09022	0.002	B	0.04013	0.001	T	0.28870	-1.0030	10	0.11485	T	0.65	.	9.3355	0.38047	0.5543:0.4457:0.0:0.0	.	685	P52732	KIF11_HUMAN	D	685	ENSP00000260731:N685D	ENSP00000260731:N685D	N	+	1	0	KIF11	94387175	0.010000	0.17322	0.992000	0.48379	0.712000	0.41017	0.612000	0.24283	0.893000	0.36288	0.533000	0.62120	AAT		0.338	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		12	19	0	0	0	1	0	12	19					G	94397195	A	G	94397195	3	3	48	1	0	0	0	0	1	0	0	0	8281	130	5	4	2115	4	KIF11	10	94397195	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	27928	94397195	41137552	2522	6990										
EXOC6	54536	broad.mit.edu	37	chr10	94816756	94816756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccagcttctaagtaccttCgggtgaatccaaacacagcc	8	13	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:94816756C>T	ENST00000260762.6	+	21	2259	c.2245C>T	c.(2245-2247)Cgg>Tgg	p.R749W	EXOC6_ENST00000371552.4_Missense_Mutation_p.R744W|EXOC6_ENST00000371547.4_Missense_Mutation_p.R765W|EXOC6_ENST00000443748.2_Missense_Mutation_p.R646W|RP11-348J12.2_ENST00000444965.1_RNA	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	749					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TAAGTACCTTCGGGTGAATCC	0.403																																						ENST00000371552.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(2230-2232)Cgg>Tgg		exocyst complex component 6							115	110	112					10																	94816756		2203	4300	6503	SO:0001583	missense	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94816756C>T	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"SEC15-like 1 (S. cerevisiae)"	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.2245C>T	10.37:g.94816756C>T	ENSP00000260762:p.Arg749Trp		Somatic				EXOC6_ENST00000443748.2_Missense_Mutation_p.R646W|EXOC6_ENST00000260762.6_Missense_Mutation_p.R749W|EXOC6_ENST00000371547.4_Missense_Mutation_p.R765W	p.R744W	NM_001013848.2	NP_001013870.1	WXS	Illumina GAIIx	Phase_I	Q8TAG9	EXOC6_HUMAN			21	2259	+		Colorectal(252;0.123)	749					E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	c.2230C>T	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962995	0.74016	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.62	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.80847	2.515	0.80722	D	1	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	0.85130	0.992;0.997;0.997;0.997;0.997;0.995	T	0.70342	-0.4898	10	0.72032	D	0.01	-9.4267	13.1489	0.59478	0.2909:0.7091:0.0:0.0	.	765;646;741;702;749;744	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	W	765;744;646;749	ENSP00000360602:R765W;ENSP00000360607:R744W;ENSP00000396206:R646W;ENSP00000260762:R749W	ENSP00000260762:R749W	R	+	1	2	EXOC6	94806746	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.901000	0.48695	1.329000	0.45376	0.655000	0.94253	CGG		0.403	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053		24	38	0	0	0	1	0	24	38					T	94816756	C	T	94816756	3	4	48	1	0	0	0	0	1	0	0	0	5310	875	31	1	2417	1	EXOC6	10	94816756	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	419561	94816756	40717991	2523	6991										
CEP55	55165	broad.mit.edu	37	chr10	95262876	95262876	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagtttatgtctagaaaattCgagtccttgaggctgagaag	11	5	1	3	rs146596670		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:95262876C>T	ENST00000371485.3	+	3	494	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	64					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)				CTAGAAAATTCGAGTCCTTGA	0.368																																						ENST00000371485.3																			0				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13						c.(190-192)Cga>Tga		centrosomal protein 55kDa		C	stop/ARG,stop/ARG	0,4406		0,0,2203	63	62	62		190,190	5.3	1	10	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	CEP55	NM_001127182.1,NM_018131.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	64/465,64/465	95262876	1,13005	2203	4300	6503	SO:0001587	stop_gained	55165				cell division|mitosis	centriole|cleavage furrow|midbody		g.chr10:95262876C>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.190C>T	10.37:g.95262876C>T	ENSP00000360540:p.Arg64*		Somatic					p.R64*	NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	WXS	Illumina GAIIx	Phase_I	Q53EZ4	CEP55_HUMAN			3	494	+		Colorectal(252;0.207)	64					B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Nonsense_Mutation	SNP	ENST00000371485.3	37	c.190C>T	CCDS7428.1	.	.	.	.	.	.	.	.	.	.	C	39	7.559771	0.98358	0.0	1.16E-4	ENSG00000138180	ENST00000371485;ENST00000358339	.	.	.	5.28	5.28	0.74379	.	0.293519	0.33217	N	0.005156	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-0.8008	17.0383	0.86482	0.0:1.0:0.0:0.0	.	.	.	.	X	64	.	ENSP00000351102:R64X	R	+	1	2	CEP55	95252866	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	2.094000	0.41719	2.611000	0.88343	0.591000	0.81541	CGA		0.368	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		19	22	0	0	0	1	0	19	22					T	95262876	C	T	95262876	4	4	48	1	0	0	0	0	0	1	0	0	3257	876	31	1	196	1	CEP55	10	95262876	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	446120	95262876	40271871	2524	6992										
CEP55	55165	broad.mit.edu	37	chr10	95263099	95263099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttgtctgctgcaacctcacGaattgctgaacttgaaagca	9	10	2	2	rs370361002		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:95263099G>A	ENST00000371485.3	+	3	717	c.413G>A	c.(412-414)cGa>cAa	p.R138Q		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	138					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)				GCAACCTCACGAATTGCTGAA	0.393																																						ENST00000371485.3																			0				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13						c.(412-414)cGa>cAa		centrosomal protein 55kDa		G	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	161	142	148		413,413	4.5	0.5	10		148	0,8600		0,0,4300	no	missense,missense	CEP55	NM_001127182.1,NM_018131.4	43,43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	138/465,138/465	95263099	2,13004	2203	4300	6503	SO:0001583	missense	55165				cell division|mitosis	centriole|cleavage furrow|midbody		g.chr10:95263099G>A	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.413G>A	10.37:g.95263099G>A	ENSP00000360540:p.Arg138Gln		Somatic					p.R138Q	NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	WXS	Illumina GAIIx	Phase_I	Q53EZ4	CEP55_HUMAN			3	717	+		Colorectal(252;0.207)	138					B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	c.413G>A	CCDS7428.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930594	0.52866	4.54E-4	0.0	ENSG00000138180	ENST00000371485;ENST00000358339	T	0.21361	2.01	5.37	4.46	0.54185	.	0.100180	0.64402	D	0.000003	T	0.19725	0.0474	M	0.66939	2.045	0.34525	D	0.70859	P	0.51240	0.943	B	0.35899	0.213	T	0.44112	-0.9349	10	0.72032	D	0.01	-14.7317	9.6914	0.40131	0.1644:0.0:0.8356:0.0	.	138	Q53EZ4	CEP55_HUMAN	Q	138	ENSP00000360540:R138Q	ENSP00000351102:R138Q	R	+	2	0	CEP55	95253089	0.987000	0.35691	0.501000	0.27601	0.250000	0.25880	0.950000	0.29122	1.388000	0.46506	0.655000	0.94253	CGA		0.393	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		20	41	0	0	0	1	0	20	41					A	95263099	G	A	95263099	3	1	48	1	0	0	0	0	1	0	0	0	3257	1058	37	1	419	1	CEP55	10	95263099	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	223	95263099	40271648	2525	6993										
FRA10AC1	118924	broad.mit.edu	37	chr10	95445014	95445014	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaacttacttaatttaacaAgtgcatttctcttctcacca	2	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:95445014A>C	ENST00000359204.4	-	9	811	c.614T>G	c.(613-615)cTt>cGt	p.L205R	FRA10AC1_ENST00000536233.1_Missense_Mutation_p.L205R|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.L205R|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.L205R	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	205	Lys-rich.					nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TAATTTAACAAGTGCATTTCT	0.264																																						ENST00000359204.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						c.(613-615)cTt>cGt		fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1							105	120	115					10																	95445014		2201	4295	6496	SO:0001583	missense	118924					nucleus	protein binding	g.chr10:95445014A>C	AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"chromosome 10 open reading frame 4"	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.614T>G	10.37:g.95445014A>C	ENSP00000360488:p.Leu205Arg		Somatic				FRA10AC1_ENST00000536233.1_Missense_Mutation_p.L205R|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.L205R|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.L205R	p.L205R	NM_145246.4	NP_660289.2	WXS	Illumina GAIIx	Phase_I	Q70Z53	F10C1_HUMAN			9	811	-			205			Lys-rich.		C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	ENST00000359204.4	37	c.614T>G	CCDS7430.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388844	0.82902	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.35605	1.32;1.42;1.3;1.32	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.69296	0.3095	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78114	-0.2330	10	0.87932	D	0	-10.3809	15.7606	0.78076	1.0:0.0:0.0:0.0	.	205	Q70Z53	F10C1_HUMAN	R	205	ENSP00000360488:L205R;ENSP00000438405:L205R;ENSP00000360484:L205R;ENSP00000377660:L205R	ENSP00000360488:L205R	L	-	2	0	FRA10AC1	95435004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.526000	0.90588	2.123000	0.65237	0.533000	0.62120	CTT		0.264	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049439.1	NM_145246		17	62	0	0	0	1	0	17	62					C	95445014	A	C	95445014	3	2	48	1	0	0	0	0	1	0	0	0	6049	72	3	4	357	4	FRA10AC1	10	95445014	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	181915	95445014	40089733	2526	6994										
FRA10AC1	118924	broad.mit.edu	37	chr10	95459799	95459799	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttacttacctttttttccttTtgctggattctccacagcgt	5	11	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:95459799T>G	ENST00000359204.4	-	2	262	c.65A>C	c.(64-66)aAa>aCa	p.K22T	FRA10AC1_ENST00000536233.1_Missense_Mutation_p.K22T|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.K22T|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.K22T	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	22						nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TTTTTTCCTTTTGCTGGATTC	0.299																																						ENST00000359204.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						c.(64-66)aAa>aCa		fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1							62	59	60					10																	95459799		2203	4300	6503	SO:0001583	missense	118924					nucleus	protein binding	g.chr10:95459799T>G	AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"chromosome 10 open reading frame 4"	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.65A>C	10.37:g.95459799T>G	ENSP00000360488:p.Lys22Thr		Somatic				FRA10AC1_ENST00000536233.1_Missense_Mutation_p.K22T|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.K22T|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.K22T	p.K22T	NM_145246.4	NP_660289.2	WXS	Illumina GAIIx	Phase_I	Q70Z53	F10C1_HUMAN			2	262	-			22					C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	ENST00000359204.4	37	c.65A>C	CCDS7430.1	.	.	.	.	.	.	.	.	.	.	T	7.083	0.570584	0.13560	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.25085	1.89;1.85;1.82;1.84	5.29	2.97	0.34412	.	0.552403	0.20453	N	0.092054	T	0.16385	0.0394	L	0.36672	1.1	0.30874	N	0.73215	B;B;P	0.34462	0.372;0.241;0.454	B;B;B	0.29077	0.098;0.051;0.053	T	0.11941	-1.0567	10	0.21540	T	0.41	-0.0772	9.1546	0.36985	0.0:0.1482:0.0:0.8518	.	22;22;22	F8WCS9;Q70Z53-2;Q70Z53	.;.;F10C1_HUMAN	T	22	ENSP00000360488:K22T;ENSP00000438405:K22T;ENSP00000360484:K22T;ENSP00000377660:K22T	ENSP00000360488:K22T	K	-	2	0	FRA10AC1	95449789	0.904000	0.30761	1.000000	0.80357	0.030000	0.12068	0.201000	0.17276	0.967000	0.38186	0.533000	0.62120	AAA		0.299	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049439.1	NM_145246		13	15	0	0	0	1	0	13	15					G	95459799	T	G	95459799	3	3	48	1	0	0	0	0	1	0	0	0	6049	1841	64	4	934	4	FRA10AC1	10	95459799	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	14785	95459799	40074948	2527	6995										
PLCE1	51196	broad.mit.edu	37	chr10	96030304	96030304	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgacctgccaatcatcatatCgattgagaaccactgttcat	6	11	3	2	rs121912605		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:96030304C>A	ENST00000371380.3	+	17	4686	c.4451C>A	c.(4450-4452)tCg>tAg	p.S1484*	PLCE1_ENST00000371385.3_Nonsense_Mutation_p.S1176*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.S1176*|PLCE1_ENST00000260766.3_Nonsense_Mutation_p.S1484*			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1484	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.		S -> L (in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis). {ECO:0000269|PubMed:17086182}.		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)				ATCATCATATCGATTGAGAAC	0.438																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8	GRCh37	CM066177	PLCE1	M	rs121912605	c.(4450-4452)tCg>tAg		phospholipase C, epsilon 1							132	126	128					10																	96030304		1989	4160	6149	SO:0001587	stop_gained	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.chr10:96030304C>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4451C>A	10.37:g.96030304C>A	ENSP00000360431:p.Ser1484*		Somatic				PLCE1_ENST00000371380.2_Nonsense_Mutation_p.S1484*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.S1176*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.S1176*	p.S1484*	NM_016341.3	NP_057425.3	WXS	Illumina GAIIx	Phase_I	Q9P212	PLCE1_HUMAN			18	5085	+		Colorectal(252;0.0458)	1484		S -> L (in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis).	PI-PLC X-box.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Nonsense_Mutation	SNP	ENST00000371380.3	37	c.4451C>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	49	15.207746	0.99826	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	.	.	.	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0562	0.93066	0.0:1.0:0.0:0.0	.	.	.	.	X	1484;1484;1176;1176	.	ENSP00000260766:S1484X	S	+	2	0	PLCE1	96020294	1.000000	0.71417	0.962000	0.40283	0.898000	0.52572	7.776000	0.85560	2.676000	0.91093	0.557000	0.71058	TCG		0.438	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		31	58	1	0	5.60225e-13	1	7.13348e-13	31	58					A	96030304	C	A	96030304	4	1	48	1	0	0	0	0	0	1	0	0	12043	893	31	2	4803	2	PLCE1	10	96030304	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	570505	96030304	39504443	2528	6996										
PLCE1	51196	broad.mit.edu	37	chr10	96073057	96073057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttgcagactcacagagtcaCggtgcatggggtcccagggc	14	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:96073057C>T	ENST00000371380.3	+	27	6285	c.6050C>T	c.(6049-6051)aCg>aTg	p.T2017M	PLCE1_ENST00000371385.3_Missense_Mutation_p.T1709M|RP11-76P2.4_ENST00000609123.1_RNA|PLCE1_ENST00000371375.1_Missense_Mutation_p.T1709M|PLCE1_ENST00000260766.3_Missense_Mutation_p.T2017M			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2017	Ras-associating 1. {ECO:0000255|PROSITE- ProRule:PRU00166}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CACAGAGTCACGGTGCATGGG	0.458																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(6049-6051)aCg>aTg		phospholipase C, epsilon 1							126	125	125					10																	96073057		1909	4122	6031	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.chr10:96073057C>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.6050C>T	10.37:g.96073057C>T	ENSP00000360431:p.Thr2017Met		Somatic				PLCE1_ENST00000371380.2_Missense_Mutation_p.T2017M|PLCE1_ENST00000371385.3_Missense_Mutation_p.T1709M|PLCE1_ENST00000371375.1_Missense_Mutation_p.T1709M	p.T2017M	NM_016341.3	NP_057425.3	WXS	Illumina GAIIx	Phase_I	Q9P212	PLCE1_HUMAN			28	6684	+		Colorectal(252;0.0458)	2017			Ras-associating 1.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.6050C>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651406	0.88056	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.27402	1.67;1.67;1.68;1.68	5.6	5.6	0.85130	.	0.053822	0.64402	D	0.000001	T	0.46483	0.1395	L	0.32530	0.975	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.17167	-1.0378	10	0.30854	T	0.27	.	19.2384	0.93871	0.0:1.0:0.0:0.0	.	2001;1709;2017	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	M	2017;2017;1709;1709	ENSP00000260766:T2017M;ENSP00000360431:T2017M;ENSP00000360438:T1709M;ENSP00000360426:T1709M	ENSP00000260766:T2017M	T	+	2	0	PLCE1	96063047	1.000000	0.71417	0.994000	0.49952	0.949000	0.60115	7.507000	0.81676	2.648000	0.89879	0.650000	0.86243	ACG		0.458	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		30	66	0	0	0	1	0	30	66					T	96073057	C	T	96073057	3	4	48	1	0	0	0	0	1	0	0	0	12043	536	19	1	6442	1	PLCE1	10	96073057	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	42753	96073057	39461690	2529	6997										
HELLS	3070	broad.mit.edu	37	chr10	96354558	96354558	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaatactatcgatcagaaaaTtgtggaaagagcagctgcta	9	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:96354558T>G	ENST00000348459.5	+	19	2300	c.2195T>G	c.(2194-2196)aTt>aGt	p.I732S	HELLS_ENST00000371332.4_Missense_Mutation_p.I778S|HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.I634S	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GATCAGAAAATTGTGGAAAGA	0.373																																						ENST00000348459.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(2194-2196)aTt>aGt		helicase, lymphoid-specific							109	99	103					10																	96354558		2203	4300	6503	SO:0001583	missense	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96354558T>G	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6", "proliferation-associated SNF2-like protein"	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.2195T>G	10.37:g.96354558T>G	ENSP00000239027:p.Ile732Ser		Somatic				HELLS_ENST00000371332.4_Missense_Mutation_p.I778S|HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.I634S	p.I732S	NM_018063.3	NP_060533.2	WXS	Illumina GAIIx	Phase_I	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	19	2300	+		Colorectal(252;0.0429)	732			Helicase C-terminal.			Missense_Mutation	SNP	ENST00000348459.5	37	c.2195T>G	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.647879	0.87958	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.98	5.98	0.97165	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91771	0.7397	M	0.91768	3.24	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.991;0.979;0.994;0.996;0.983	D	0.93387	0.6748	10	0.87932	D	0	-22.7018	15.6593	0.77169	0.0:0.0:0.0:1.0	.	716;703;602;634;732	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	S	732;634;778;169	ENSP00000239027:I732S;ENSP00000377609:I634S;ENSP00000360383:I778S;ENSP00000360378:I169S	ENSP00000239027:I732S	I	+	2	0	HELLS	96344548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.288000	0.76882	0.528000	0.53228	ATT		0.373	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		4	26	0	0	0	1	0	4	26					G	96354558	T	G	96354558	3	3	48	1	0	0	0	0	1	0	0	0	7055	1493	52	4	2269	4	HELLS	10	96354558	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	281501	96354558	39180189	2530	6998										
CYP2C9	1559	broad.mit.edu	37	chr10	96708977	96708977	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaaaaagtaaaagaacaccAagaatcaatggacatgaaca	8	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:96708977A>C	ENST00000260682.6	+	5	767	c.755A>C	c.(754-756)cAa>cCa	p.Q252P		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	252					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)	AAAGAACACCAAGAATCAATG	0.328																																					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.(754-756)cAa>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)						85	87	87					10																	96708977		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96708977A>C	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.755A>C	10.37:g.96708977A>C	ENSP00000260682:p.Gln252Pro		Somatic					p.Q252P	NM_000771.3	NP_000762.2	WXS	Illumina GAIIx	Phase_I	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	5	767	+		Colorectal(252;0.0902)	252					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.755A>C	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.080017	0.76528	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.69561	-0.41	3.29	3.29	0.37713	.	0.278902	0.29239	U	0.012738	T	0.80008	0.4545	M	0.89287	3.02	0.35196	D	0.773804	P;P	0.49358	0.923;0.923	P;P	0.58780	0.845;0.845	D	0.86661	0.1904	10	0.87932	D	0	.	9.8769	0.41209	1.0:0.0:0.0:0.0	.	252;252	Q5VX92;P11712	.;CP2C9_HUMAN	P	252	ENSP00000260682:Q252P	ENSP00000260682:Q252P	Q	+	2	0	CYP2C9	96698967	0.287000	0.24315	0.072000	0.20136	0.720000	0.41350	4.374000	0.59543	1.501000	0.48654	0.402000	0.26972	CAA		0.328	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		5	56	0	0	0	1	0	5	56					C	96708977	A	C	96708977	3	2	48	1	0	0	0	0	1	0	0	0	4170	130	5	4	773	4	CYP2C9	10	96708977	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	354419	96708977	38825770	2531	6999										
CC2D2B	387707	broad.mit.edu	37	chr10	97772424	97772424	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttagtcacaagatatatcAaggcattaaatccacctcag	5	10	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:97772424A>G	ENST00000344386.3	+	4	420	c.256A>G	c.(256-258)Aag>Gag	p.K86E	ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.K86E|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000452728.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	86										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)		AAGATATATCAAGGCATTAAA	0.299																																						ENST00000344386.3																			0				large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10						c.(256-258)Aag>Gag		coiled-coil and C2 domain containing 2B							95	92	93					10																	97772424		1845	4088	5933	SO:0001583	missense	387707							g.chr10:97772424A>G	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.256A>G	10.37:g.97772424A>G	ENSP00000343747:p.Lys86Glu		Somatic				ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.K86E|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron	p.K86E	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)	4	420	+		Colorectal(252;0.158)	86					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Missense_Mutation	SNP	ENST00000344386.3	37	c.256A>G	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.832178	0.71258	.	.	ENSG00000188649	ENST00000424464;ENST00000451649;ENST00000410012;ENST00000344386	T;T;T	0.81163	-1.46;-0.67;-0.67	5.19	3.98	0.46160	.	.	.	.	.	T	0.74794	0.3763	M	0.72894	2.215	0.23204	N	0.99813	P;B	0.46142	0.873;0.361	B;B	0.36464	0.225;0.157	T	0.65792	-0.6082	9	0.25106	T	0.35	.	9.6198	0.39714	0.8244:0.1756:0.0:0.0	.	86;86	E9PCC3;Q6DHV5	.;C2D2B_HUMAN	E	147;86;86;86	ENSP00000391834:K147E;ENSP00000386988:K86E;ENSP00000343747:K86E	ENSP00000343747:K86E	K	+	1	0	CC2D2B	97762414	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.244000	0.51399	1.974000	0.57490	0.477000	0.44152	AAG		0.299	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		14	34	0	0	0	1	0	14	34					G	97772424	A	G	97772424	3	3	48	1	0	0	0	0	1	0	0	0	2731	131	5	4	266	4	CC2D2B	10	97772424	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1063447	97772424	37762323	2532	7000										
CC2D2B	387707	broad.mit.edu	37	chr10	97772451	97772451	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaatccacctcagcaacttCtggatatatttcttcacaat	3	11	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:97772451C>T	ENST00000344386.3	+	4	447	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.L95L|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000452728.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	95										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)		TCAGCAACTTCTGGATATATT	0.318																																						ENST00000344386.3																			0				large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10						c.(283-285)Ctg>Ttg		coiled-coil and C2 domain containing 2B							79	76	77					10																	97772451		1828	4075	5903	SO:0001819	synonymous_variant	387707							g.chr10:97772451C>T	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.283C>T	10.37:g.97772451C>T			Somatic				ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.L95L|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron	p.L95L	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)	4	447	+		Colorectal(252;0.158)	95					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Silent	SNP	ENST00000344386.3	37	c.283C>T	CCDS41555.1																																																																																				0.318	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		10	27	0	0	0	1	0	10	27					T	97772451	C	T	97772451	2	4	48	1	0	0	0	0	0	0	0	1	2731	912	32	3		3	CC2D2B	10	97772451	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	27	97772451	37762296	2533	7001										
ZNF518A	9849	broad.mit.edu	37	chr10	97920080	97920080	+	RNA	SNP	C	C	A													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcggcttttcccttttagttCtaaacagcttgtgaaatgtc							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:97920080C>A	ENST00000534948.1	+	0	4858							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)		CCTTTTAGTTCTAAACAGCTT	0.393																																						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							74	73	73					10																	97920080		1837	4078	5915			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97920080C>A	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.97920080C>A			Somatic								WXS	Illumina GAIIx	Phase_I	Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	4858	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.393	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		24	34	1	0	1.9806e-07	1	2.28356e-07	24	34					A	97920080	C	A	97920080	1	1	48	0	1	0	0	0	0	0	0	0	17977	913	32	2		2	ZNF518A	10	97920080	RNA	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	147629	97920080	37614667	2534	7002	20	2								
ZNF518A	9849	broad.mit.edu	37	chr10	97920089	97920089	+	RNA	SNP	T	T	G													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccttttagttctaaacagcTtgtgaaatgtctaggagaaa							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:97920089T>G	ENST00000534948.1	+	0	4867							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)		TCTAAACAGCTTGTGAAATGT	0.378																																						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							82	80	81					10																	97920089		1839	4082	5921			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97920089T>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.97920089T>G			Somatic								WXS	Illumina GAIIx	Phase_I	Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	4867	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.378	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		17	40	0	0	0	1	0	17	40					G	97920089	T	G	97920089	1	3	48	0	1	0	0	0	0	0	0	0	17977	1609	56	4		4	ZNF518A	10	97920089	RNA	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	9	97920089	37614658	2535	7003	20	2								
TM9SF3	56889	broad.mit.edu	37	chr10	98336396	98336396	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttaaggtttacttacctttaAatttaatatccagaccacta	3	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:98336396A>C	ENST00000371142.4	-	2	509	c.293T>G	c.(292-294)tTt>tGt	p.F98C		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	98						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		CTTACCTTTAAATTTAATATC	0.353																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(292-294)tTt>tGt		transmembrane 9 superfamily member 3							93	97	96					10																	98336396		2203	4300	6503	SO:0001583	missense	56889					integral to membrane	binding	g.chr10:98336396A>C	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.293T>G	10.37:g.98336396A>C	ENSP00000360184:p.Phe98Cys		Somatic					p.F98C	NM_020123.3	NP_064508.3	WXS	Illumina GAIIx	Phase_I	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	509	-		Colorectal(252;0.158)	98					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	ENST00000371142.4	37	c.293T>G	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.387296	0.82902	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	T;T	0.52754	0.65;0.65	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.79203	0.4406	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.86820	0.2004	10	0.87932	D	0	-12.8836	14.9572	0.71124	1.0:0.0:0.0:0.0	.	98	Q9HD45	TM9S3_HUMAN	C	98;54	ENSP00000360184:F98C;ENSP00000401152:F54C	ENSP00000360184:F98C	F	-	2	0	TM9SF3	98326386	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.757000	0.91657	2.174000	0.68829	0.533000	0.62120	TTT		0.353	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		6	49	0	0	0	1	0	6	49					C	98336396	A	C	98336396	3	2	48	1	0	0	0	0	1	0	0	0	15994	14	1	4	1532	4	TM9SF3	10	98336396	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	416307	98336396	37198351	2536	7004										
SLIT1	6585	broad.mit.edu	37	chr10	98825776	98825776	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaggcctgtactcacaaatTtttaaggtccgtagctcccc	7	14	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:98825776T>G	ENST00000266058.4	-	5	726	c.481A>C	c.(481-483)Aat>Cat	p.N161H	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.N161H|SLIT1_ENST00000371041.3_Missense_Mutation_p.N161H	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	161					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)		ACTCACAAATTTTTAAGGTCC	0.587																																						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.(481-483)Aat>Cat		slit homolog 1 (Drosophila)							46	40	42					10																	98825776		2203	4299	6502	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.chr10:98825776T>G	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.481A>C	10.37:g.98825776T>G	ENSP00000266058:p.Asn161His		Somatic				SLIT1_ENST00000371070.4_Missense_Mutation_p.N161H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.N161H	p.N161H	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)	5	726	-		Colorectal(252;0.162)	161					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.481A>C	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.290993	0.59976	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	N	0.04705	-0.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.61128	-0.7125	10	0.46703	T	0.11	.	14.5227	0.67863	0.0:0.0:0.0:1.0	.	161;161	E7EWQ8;O75093	.;SLIT1_HUMAN	H	161;161;137;161;144;137;161	ENSP00000266058:N161H;ENSP00000360109:N161H;ENSP00000315005:N144H;ENSP00000360080:N161H	ENSP00000266058:N161H	N	-	1	0	SLIT1	98815766	1.000000	0.71417	0.961000	0.40146	0.317000	0.28152	7.408000	0.80041	2.040000	0.60383	0.402000	0.26972	AAT		0.587	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		4	5	0	0	0	1	0	4	5					G	98825776	T	G	98825776	3	3	48	1	0	0	0	0	1	0	0	0	14754	1841	64	4	4255	4	SLIT1	10	98825776	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	489380	98825776	36708971	2537	7005										
ZFYVE27	118813	broad.mit.edu	37	chr10	99498292	99498292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagccccagcgtgatgcccGaggctcccctggagtctcca	12	16	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:99498292G>A	ENST00000393677.4	+	2	262	c.58G>A	c.(58-60)Gag>Aag	p.E20K	ZFYVE27_ENST00000337540.7_Missense_Mutation_p.E20K|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.E20K|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.E20K|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.E20K|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.E20K|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.E20K	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	20					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CGTGATGCCCGAGGCTCCCCT	0.537																																						ENST00000393677.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(58-60)Gag>Aag		zinc finger, FYVE domain containing 27							133	132	132					10																	99498292		2203	4300	6503	SO:0001583	missense	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99498292G>A	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"Zinc fingers, FYVE domain containing"	26559	protein-coding gene	gene with protein product	"protrudin"	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.58G>A	10.37:g.99498292G>A	ENSP00000377282:p.Glu20Lys		Somatic				ZFYVE27_ENST00000356257.4_Missense_Mutation_p.E20K|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.E20K|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.E20K|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.E20K|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.E20K|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.E20K	p.E20K	NM_144588.6	NP_653189.3	WXS	Illumina GAIIx	Phase_I	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	2	262	+		Colorectal(252;0.0846)	20					B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	37	c.58G>A	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336765	0.95758	.	.	ENSG00000155256	ENST00000337540;ENST00000357540;ENST00000370613;ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257	T;T;T;T;T	0.48522	0.81;1.44;1.43;1.43;1.44	5.04	5.04	0.67666	.	0.170044	0.49916	D	0.000138	T	0.40423	0.1116	L	0.27053	0.805	0.80722	D	1	P;P;P;P;P;P	0.39131	0.661;0.509;0.641;0.641;0.648;0.509	B;B;B;B;B;B	0.38562	0.143;0.1;0.202;0.202;0.276;0.1	T	0.45731	-0.9241	10	0.72032	D	0.01	-16.3267	17.9941	0.89177	0.0:0.0:1.0:0.0	.	20;20;20;20;20;20	B7Z404;B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;.;ZFY27_HUMAN	K	20	ENSP00000337993:E20K;ENSP00000377282:E20K;ENSP00000401580:E20K;ENSP00000353069:E20K;ENSP00000348593:E20K	ENSP00000337993:E20K	E	+	1	0	ZFYVE27	99488282	1.000000	0.71417	0.846000	0.33378	0.953000	0.61014	5.325000	0.65869	2.331000	0.79229	0.561000	0.74099	GAG		0.537	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		53	65	0	0	0	1	0	53	65					A	99498292	G	A	99498292	3	1	48	1	0	0	0	0	1	0	0	0	17684	1059	37	1	60	1	ZFYVE27	10	99498292	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	672516	99498292	36036455	2538	7006										
C10orf28	27291	broad.mit.edu	37	chr10	99968024	99968024	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgtggtgaaagaaaagcaAaaagaaagttctctctccca	8	8	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:99968024A>G	ENST00000298999.3	+	5	456	c.153A>G	c.(151-153)caA>caG	p.Q51Q	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Silent_p.Q51Q	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	51							nucleotide binding (GO:0000166)										AAGAAAAGCAAAAAGAAAGTT	0.403																																						ENST00000298999.3																			0											c.(151-153)caA>caG		R3H domain and coiled-coil containing 1-like							66	74	71					10																	99968024		2203	4300	6503	SO:0001819	synonymous_variant	27291							g.chr10:99968024A>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.153A>G	10.37:g.99968024A>G			Somatic				R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Silent_p.Q51Q|R3HCC1L_ENST00000370586.2_Intron	p.Q51Q	NM_014472.4	NP_055287.4	WXS	Illumina GAIIx	Phase_I					5	456	+								O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Silent	SNP	ENST00000298999.3	37	c.153A>G	CCDS31267.1																																																																																				0.403	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		8	59	0	0	0	1	0	8	59					G	99968024	A	G	99968024	2	3	48	1	0	0	0	0	0	0	0	1	1603	11	1	4		4	C10orf28	10	99968024	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	469732	99968024	35566723	2539	7007										
HPS1	3257	broad.mit.edu	37	chr10	100189343	100189343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctcacctgagctctgatcGccaggggaaggagctggtgt	14	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:100189343G>A	ENST00000325103.6	-	10	1157	c.924C>T	c.(922-924)ggC>ggT	p.G308G	HPS1_ENST00000338546.5_Silent_p.G308G|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.G308G|MIR4685_ENST00000578185.1_RNA	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	308					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGCTCTGATCGCCAGGGGAAG	0.587									Hermansky-Pudlak syndrome																													ENST00000325103.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(922-924)ggC>ggT		Hermansky-Pudlak syndrome 1							78	78	78					10																	100189343		2203	4300	6503	SO:0001819	synonymous_variant	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100189343G>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"Hermansky-Pudlak syndrome"	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.924C>T	10.37:g.100189343G>A			Somatic				HPS1_ENST00000361490.4_Silent_p.G308G|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000338546.5_Silent_p.G308G	p.G308G	NM_000195.3	NP_000186.2	WXS	Illumina GAIIx	Phase_I	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	10	1157	-		Colorectal(252;0.234)	308					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Silent	SNP	ENST00000325103.6	37	c.924C>T	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	G	4.367	0.067704	0.08436	.	.	ENSG00000107521	ENST00000414009	.	.	.	5.28	-10.6	0.00265	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1369	0.14939	0.1348:0.3089:0.4276:0.1287	.	.	.	.	X	143	.	.	R	-	1	2	HPS1	100179333	0.000000	0.05858	0.002000	0.10522	0.612000	0.37316	-3.654000	0.00402	-2.931000	0.00300	-2.285000	0.00268	CGA		0.587	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		12	34	0	0	0	1	0	12	34					A	100189343	G	A	100189343	2	1	48	1	0	0	0	0	0	0	0	1	7348	1074	38	1		1	HPS1	10	100189343	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	221319	100189343	35345404	2540	7008										
CNNM1	26507	broad.mit.edu	37	chr10	101124759	101124759	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggctggatcttctgtctttCgtatgtatctctcaaacccc	7	12	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101124759C>T	ENST00000356713.4	+	6	2465	c.2176C>T	c.(2176-2178)Cta>Tta	p.L726L	CNNM1_ENST00000446890.1_Splice_Site_p.L655L|CNNM1_ENST00000370528.3_Splice_Site_p.L655L|CNNM1_ENST00000370534.4_Splice_Site_p.L361L	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	726					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)		TTCTGTCTTTCGTATGTATCT	0.547																																						ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.e6+1		cyclin M1							196	157	170					10																	101124759		2203	4300	6503	SO:0001630	splice_region_variant	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101124759C>T	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.2176+1C>T	10.37:g.101124759C>T			Somatic				CNNM1_ENST00000446890.1_Splice_Site_p.L655_splice|CNNM1_ENST00000370528.3_Splice_Site_p.L655_splice|CNNM1_ENST00000370534.4_Splice_Site_p.L361_splice	p.L726_splice	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)	6	2465	+		Colorectal(252;0.234)	726					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Splice_Site	SNP	ENST00000356713.4	37	c.2176_splice	CCDS7478.2																																																																																				0.547	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348	Silent	15	16	0	0	0	1	0	15	16					T	101124759	C	T	101124759	5	4	48	1	0	0	0	0	0	0	1	0	3614	898	31	1	2198	1	CNNM1	10	101124759	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	935416	101124759	34409988	2541	7009										
GOT1	2805	broad.mit.edu	37	chr10	101157417	101157417	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagcaggtagatgtgcttttCattgaccagatactcaacct	8	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101157417C>A	ENST00000370508.5	-	9	1156	c.1129G>T	c.(1129-1131)Gaa>Taa	p.E377*	GOT1_ENST00000543866.1_Nonsense_Mutation_p.E356*	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	377					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	ATGTGCTTTTCATTGACCAGA	0.458																																					Melanoma(173;770 3544 21601)	ENST00000370508.5																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16						c.(1129-1131)Gaa>Taa		glutamic-oxaloacetic transaminase 1, soluble	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						179	152	161					10																	101157417		2203	4300	6503	SO:0001587	stop_gained	2805				aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr10:101157417C>A	M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"aspartate aminotransferase 1", "aspartate transaminase 1"	138180	"glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.1129G>T	10.37:g.101157417C>A	ENSP00000359539:p.Glu377*		Somatic				GOT1_ENST00000543866.1_Nonsense_Mutation_p.E356*	p.E377*	NM_002079.2	NP_002070.1	WXS	Illumina GAIIx	Phase_I	P17174	AATC_HUMAN		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	9	1156	-		Ovarian(717;0.028)|Colorectal(252;0.234)	377					B2R6R7|B7Z7E9|Q5VW80	Nonsense_Mutation	SNP	ENST00000370508.5	37	c.1129G>T	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	C	36	5.894727	0.97074	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-23.274	18.5393	0.91022	0.0:1.0:0.0:0.0	.	.	.	.	X	377;330;356	.	ENSP00000359539:E377X	E	-	1	0	GOT1	101147407	1.000000	0.71417	0.989000	0.46669	0.816000	0.46133	4.608000	0.61141	2.676000	0.91093	0.655000	0.94253	GAA		0.458	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079		35	64	1	0	8.4185e-14	1	1.08646e-13	35	64					A	101157417	C	A	101157417	4	1	48	1	0	0	0	0	0	1	0	0	6587	835	29	2	116	2	GOT1	10	101157417	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	32658	101157417	34377330	2542	7010										
ABCC2	1244	broad.mit.edu	37	chr10	101556891	101556891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaagcgtcctctgacactcGaggatgtctgggaagttgat	12	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101556891G>A	ENST00000370449.4	+	7	783	c.670G>A	c.(670-672)Gag>Aag	p.E224K	ABCC2_ENST00000370434.1_Missense_Mutation_p.E224K	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	224					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TCTGACACTCGAGGATGTCTG	0.517																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(670-672)Gag>Aag		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						70	68	69					10																	101556891		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101556891G>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.670G>A	10.37:g.101556891G>A	ENSP00000359478:p.Glu224Lys		Somatic				ABCC2_ENST00000370434.1_Missense_Mutation_p.E224K	p.E224K	NM_000392.3	NP_000383.1	WXS	Illumina GAIIx	Phase_I	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	7	783	+		Colorectal(252;0.234)	224					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.670G>A	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	2.142	-0.396515	0.04899	.	.	ENSG00000023839	ENST00000370449;ENST00000370434	D;D	0.94330	-2.08;-3.4	5.62	3.68	0.42216	.	0.243858	0.47455	N	0.000229	D	0.86364	0.5915	L	0.45285	1.41	0.58432	D	0.999999	P	0.35656	0.514	B	0.23419	0.046	T	0.81037	-0.1114	10	0.09338	T	0.73	-2.6865	11.5634	0.50792	0.1523:0.0:0.8477:0.0	.	224	Q92887	MRP2_HUMAN	K	224	ENSP00000359478:E224K;ENSP00000359463:E224K	ENSP00000359463:E224K	E	+	1	0	ABCC2	101546881	1.000000	0.71417	0.085000	0.20634	0.016000	0.09150	3.260000	0.51523	0.652000	0.30806	-0.367000	0.07326	GAG		0.517	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		18	37	0	0	0	1	0	18	37					A	101556891	G	A	101556891	3	1	48	1	0	0	0	0	1	0	0	0	53	1059	37	1	696	1	ABCC2	10	101556891	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	399474	101556891	33977856	2543	7011										
ABCC2	1244	broad.mit.edu	37	chr10	101605492	101605492	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgatggagtagatattgctTccattgggctccacgacctc	10	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101605492T>C	ENST00000370449.4	+	29	4212	c.4099T>C	c.(4099-4101)Tcc>Ccc	p.S1367P		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1367	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AGATATTGCTTCCATTGGGCT	0.527											OREG0020434	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(4099-4101)Tcc>Ccc		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						105	90	95					10																	101605492		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101605492T>C	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.4099T>C	10.37:g.101605492T>C	ENSP00000359478:p.Ser1367Pro		Somatic	OREG0020434	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360		p.S1367P	NM_000392.3	NP_000383.1	WXS	Illumina GAIIx	Phase_I	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	29	4212	+		Colorectal(252;0.234)	1367			ABC transporter 2.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.4099T>C	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.817260	0.70912	.	.	ENSG00000023839	ENST00000370449	D	0.90788	-2.73	5.61	5.61	0.85477	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.147314	0.64402	D	0.000016	D	0.91646	0.7360	L	0.45137	1.4	0.80722	D	1	D	0.59767	0.986	D	0.63703	0.917	D	0.91235	0.5017	10	0.51188	T	0.08	-0.2976	9.6856	0.40096	0.2573:0.0:0.0:0.7427	.	1367	Q92887	MRP2_HUMAN	P	1367	ENSP00000359478:S1367P	ENSP00000359478:S1367P	S	+	1	0	ABCC2	101595482	0.142000	0.22610	1.000000	0.80357	0.906000	0.53458	3.090000	0.50191	2.254000	0.74563	0.533000	0.62120	TCC		0.527	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		12	16	0	0	0	1	0	12	16					C	101605492	T	C	101605492	3	2	48	1	0	0	0	0	1	0	0	0	53	1783	62	4	4213	4	ABCC2	10	101605492	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	48601	101605492	33929255	2544	7012										
ABCC2	1244	broad.mit.edu	37	chr10	101606730	101606730	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acttgcaggaccccatcctgTtctctggaagcctgaggatg	11	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101606730T>C	ENST00000370449.4	+	30	4272	c.4159T>C	c.(4159-4161)Ttc>Ctc	p.F1387L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1387	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CCCCATCCTGTTCTCTGGAAG	0.537																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(4159-4161)Ttc>Ctc		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						241	258	252					10																	101606730		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101606730T>C	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.4159T>C	10.37:g.101606730T>C	ENSP00000359478:p.Phe1387Leu		Somatic					p.F1387L	NM_000392.3	NP_000383.1	WXS	Illumina GAIIx	Phase_I	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	30	4272	+		Colorectal(252;0.234)	1387			ABC transporter 2.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.4159T>C	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.902374	0.92035	.	.	ENSG00000023839	ENST00000370449	D	0.91407	-2.84	4.88	4.88	0.63580	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.93025	0.7780	L	0.42529	1.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93872	0.7163	10	0.87932	D	0	3.1136	14.6977	0.69134	0.0:0.0:0.0:1.0	.	1387	Q92887	MRP2_HUMAN	L	1387	ENSP00000359478:F1387L	ENSP00000359478:F1387L	F	+	1	0	ABCC2	101596720	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.809000	0.86057	2.054000	0.61138	0.528000	0.53228	TTC		0.537	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		48	362	0	0	0	1	0	48	362					C	101606730	T	C	101606730	3	2	48	1	0	0	0	0	1	0	0	0	53	1725	60	4	4277	4	ABCC2	10	101606730	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1238	101606730	33928017	2545	7013										
DNMBP	23268	broad.mit.edu	37	chr10	101637071	101637071	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catttgggtttcgtgccttgAaggtgtagacagcaaaatag	12	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101637071A>G	ENST00000324109.4	-	17	4662	c.4571T>C	c.(4570-4572)tTc>tCc	p.F1524S	DNMBP_ENST00000540316.1_Missense_Mutation_p.F460S|DNMBP_ENST00000543621.1_Missense_Mutation_p.F770S|DNMBP_ENST00000342239.3_Missense_Mutation_p.F1548S	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1524	SH3 6. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCGTGCCTTGAAGGTGTAGAC	0.483																																						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.(4642-4644)tTc>tCc		dynamin binding protein							156	150	152					10																	101637071		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.chr10:101637071A>G	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.4571T>C	10.37:g.101637071A>G	ENSP00000315659:p.Phe1524Ser		Somatic				DNMBP_ENST00000540316.1_Missense_Mutation_p.F460S|DNMBP_ENST00000324109.4_Missense_Mutation_p.F1524S|DNMBP_ENST00000543621.1_Missense_Mutation_p.F770S	p.F1548S			WXS	Illumina GAIIx	Phase_I	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	17	4734	-		Colorectal(252;0.234)	1524			SH3 6.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.4643T>C	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.369774	0.82573	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.38	5.38	0.77491	Src homology-3 domain (4);	0.000000	0.50627	D	0.000112	T	0.81384	0.4811	H	0.97732	4.065	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	D	0.87285	0.2295	10	0.87932	D	0	-20.5392	12.5218	0.56065	0.8612:0.1388:0.0:0.0	.	1524;770;1548	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	S	1548;1524;770;770;460	ENSP00000344914:F1548S;ENSP00000315659:F1524S;ENSP00000443657:F770S;ENSP00000443573:F460S	ENSP00000315659:F1524S	F	-	2	0	DNMBP	101627061	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.269000	0.78482	2.033000	0.60031	0.459000	0.35465	TTC		0.483	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		36	63	0	0	0	1	0	36	63					G	101637071	A	G	101637071	3	3	48	1	0	0	0	0	1	0	0	0	4676	246	9	4	166	4	DNMBP	10	101637071	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	30341	101637071	33897676	2546	7014										
CPN1	1369	broad.mit.edu	37	chr10	101816907	101816907	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagataattaaagtcttgcaTtcctaagggaaagagggcag	12	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101816907T>G	ENST00000370418.3	-	6	1125	c.874A>C	c.(874-876)Atg>Ctg	p.M292L		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	292	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AAGTCTTGCATTCCTAAGGGA	0.458																																						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.(874-876)Atg>Ctg		carboxypeptidase N, polypeptide 1							139	137	138					10																	101816907		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101816907T>G	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.874A>C	10.37:g.101816907T>G	ENSP00000359446:p.Met292Leu		Somatic					p.M292L	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)	6	1125	-		Colorectal(252;0.234)	292			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.874A>C	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.797877	0.70567	.	.	ENSG00000120054	ENST00000370418;ENST00000441382	T;T	0.11930	2.73;2.73	4.46	4.46	0.54185	Peptidase M14, carboxypeptidase A (2);	0.124467	0.64402	D	0.000001	T	0.20414	0.0491	M	0.81179	2.53	0.80722	D	1	B	0.33857	0.429	B	0.31751	0.135	T	0.04203	-1.0969	10	0.51188	T	0.08	-15.0331	13.8826	0.63689	0.0:0.0:0.0:1.0	.	292	P15169	CBPN_HUMAN	L	292;89	ENSP00000359446:M292L;ENSP00000410895:M89L	ENSP00000359446:M292L	M	-	1	0	CPN1	101806897	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	7.689000	0.84165	1.869000	0.54173	0.374000	0.22700	ATG		0.458	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		61	125	0	0	0	1	0	61	125					G	101816907	T	G	101816907	3	3	48	1	0	0	0	0	1	0	0	0	3811	1493	52	4	518	4	CPN1	10	101816907	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	179836	101816907	33717840	2547	7015										
WNT8B	7479	broad.mit.edu	37	chr10	102242045	102242045	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggcggtgaagggcaccatGaaacgcacgtgcaagtgcca	14	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:102242045G>T	ENST00000343737.5	+	6	656	c.528G>T	c.(526-528)atG>atT	p.M176I		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	176					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		AGGGCACCATGAAACGCACGT	0.637											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343737.5																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(526-528)atG>atT		wingless-type MMTV integration site family, member 8B							17	18	18					10																	102242045		2195	4279	6474	SO:0001583	missense	7479				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr10:102242045G>T	X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"Wingless-type MMTV integration sites"	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.528G>T	10.37:g.102242045G>T	ENSP00000340677:p.Met176Ile		Somatic	OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1365		p.M176I	NM_003393.3	NP_003384.2	WXS	Illumina GAIIx	Phase_I	Q93098	WNT8B_HUMAN		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)	6	656	+		Colorectal(252;0.117)	176					O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP	ENST00000343737.5	37	c.528G>T	CCDS7494.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684668	0.88639	.	.	ENSG00000075290	ENST00000343737	T	0.77098	-1.07	5.43	5.43	0.79202	.	0.034586	0.85682	D	0.000000	D	0.86682	0.5991	M	0.84433	2.695	0.80722	D	1	P	0.48640	0.913	P	0.51945	0.685	D	0.88532	0.3103	10	0.66056	D	0.02	.	19.2296	0.93833	0.0:0.0:1.0:0.0	.	176	Q93098	WNT8B_HUMAN	I	176	ENSP00000340677:M176I	ENSP00000340677:M176I	M	+	3	0	WNT8B	102232035	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.869000	0.99810	2.553000	0.86117	0.462000	0.41574	ATG		0.637	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049867.1	NM_003393		18	19	1	0	1.02788e-11	1	1.28326e-11	18	19					T	102242045	G	T	102242045	3	4	48	1	0	0	0	0	1	0	0	0	17412	1290	45	2	550	2	WNT8B	10	102242045	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	425138	102242045	33292702	2548	7016										
LZTS2	84445	broad.mit.edu	37	chr10	102766522	102766522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttggatgctgaggcggccgGactccgggagccccctgtgc	17	13	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:102766522G>A	ENST00000370220.1	+	4	4670	c.1607G>A	c.(1606-1608)gGa>gAa	p.G536E	LZTS2_ENST00000370223.3_Missense_Mutation_p.G536E					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GAGGCGGCCGGACTCCGGGAG	0.677																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1606-1608)gGa>gAa		leucine zipper, putative tumor suppressor 2							11	14	13					10																	102766522		2193	4284	6477	SO:0001583	missense	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102766522G>A	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1607G>A	10.37:g.102766522G>A	ENSP00000359240:p.Gly536Glu		Somatic				LZTS2_ENST00000370223.3_Missense_Mutation_p.G536E	p.G536E			WXS	Illumina GAIIx	Phase_I	Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	4	4670	+			536			Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).			Missense_Mutation	SNP	ENST00000370220.1	37	c.1607G>A	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493123	0.64186	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.38722	1.12;1.12	5.56	5.56	0.83823	.	0.118957	0.56097	D	0.000021	T	0.39886	0.1095	L	0.31065	0.9	0.52501	D	0.999959	B	0.32968	0.392	B	0.41174	0.349	T	0.11155	-1.0599	10	0.18710	T	0.47	-11.0818	18.3027	0.90169	0.0:0.0:1.0:0.0	.	536	Q9BRK4	LZTS2_HUMAN	E	536	ENSP00000359243:G536E;ENSP00000359240:G536E	ENSP00000314437:G536E	G	+	2	0	LZTS2	102756512	0.974000	0.33945	0.447000	0.26932	0.557000	0.35523	1.738000	0.38207	2.606000	0.88127	0.561000	0.74099	GGA		0.677	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		9	19	0	0	0	1	0	9	19					A	102766522	G	A	102766522	3	1	48	1	0	0	0	0	1	0	0	0	9148	1174	41	3	1621	3	LZTS2	10	102766522	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	524477	102766522	32768225	2549	7017										
PPRC1	23082	broad.mit.edu	37	chr10	103898913	103898913	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccccaccctctttcttagaGacctcttcccccaagcttcc	3	20	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:103898913G>T	ENST00000278070.2	+	5	687	c.648G>T	c.(646-648)gaG>gaT	p.E216D	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.E216D	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	216					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)		CTTTCTTAGAGACCTCTTCCC	0.552																																						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.(646-648)gaG>gaT		peroxisome proliferator-activated receptor gamma, coactivator-related 1							87	94	92					10																	103898913		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103898913G>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.648G>T	10.37:g.103898913G>T	ENSP00000278070:p.Glu216Asp		Somatic				PPRC1_ENST00000413464.2_Missense_Mutation_p.E216D	p.E216D	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)	5	687	+		Colorectal(252;0.122)	216					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.648G>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	6.035	0.374746	0.11409	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.57907	0.37;0.37	5.6	-1.54	0.08584	.	0.322522	0.29015	N	0.013411	T	0.27594	0.0678	N	0.12182	0.205	0.22112	N	0.999355	B;B;B	0.14012	0.005;0.009;0.005	B;B;B	0.15484	0.006;0.013;0.006	T	0.14448	-1.0472	10	0.27785	T	0.31	.	8.6896	0.34258	0.1463:0.4952:0.3585:0.0	.	216;96;216	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	D	216	ENSP00000278070:E216D;ENSP00000399743:E216D	ENSP00000278070:E216D	E	+	3	2	PPRC1	103888903	0.001000	0.12720	0.924000	0.36721	0.025000	0.11179	-0.433000	0.06948	-0.224000	0.09928	0.561000	0.74099	GAG		0.552	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		7	100	1	0	0.00307968	1	0.00320271	7	100					T	103898913	G	T	103898913	3	4	48	1	0	0	0	0	1	0	0	0	12422	933	33	2	666	2	PPRC1	10	103898913	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1132391	103898913	31635834	2550	7018										
PPRC1	23082	broad.mit.edu	37	chr10	103899139	103899139	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ataaagcaacagcagcagagAtggcagtgccagcagctggt	13	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:103899139A>C	ENST00000278070.2	+	5	913	c.874A>C	c.(874-876)Atg>Ctg	p.M292L	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.M292L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	292					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)		AGCAGCAGAGATGGCAGTGCC	0.587																																						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.(874-876)Atg>Ctg		peroxisome proliferator-activated receptor gamma, coactivator-related 1							94	82	86					10																	103899139		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103899139A>C	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.874A>C	10.37:g.103899139A>C	ENSP00000278070:p.Met292Leu		Somatic				PPRC1_ENST00000413464.2_Missense_Mutation_p.M292L	p.M292L	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)	5	913	+		Colorectal(252;0.122)	292					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.874A>C	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	A	4.881	0.163798	0.09287	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.51574	0.7;0.7	4.29	1.97	0.26223	.	0.760664	0.12343	N	0.477236	T	0.23965	0.0580	N	0.14661	0.345	0.09310	N	1	B;B;B	0.12013	0.0;0.005;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.19353	-1.0308	10	0.17369	T	0.5	.	3.3773	0.07242	0.5993:0.0:0.2273:0.1733	.	292;172;292	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	L	292	ENSP00000278070:M292L;ENSP00000399743:M292L	ENSP00000278070:M292L	M	+	1	0	PPRC1	103889129	0.003000	0.15002	0.046000	0.18839	0.792000	0.44763	0.021000	0.13489	0.455000	0.26910	0.418000	0.28097	ATG		0.587	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		9	98	0	0	0	1	0	9	98					C	103899139	A	C	103899139	3	2	48	1	0	0	0	0	1	0	0	0	12422	333	12	4	892	4	PPRC1	10	103899139	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	226	103899139	31635608	2551	7019										
GBF1	8729	broad.mit.edu	37	chr10	104130495	104130495	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgtgtgtggcagactgttCgagaccatctataccacctc	10	12	1	2	rs372057718		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:104130495C>T	ENST00000369983.3	+	29	3795	c.3535C>T	c.(3535-3537)Cga>Tga	p.R1179*		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	1179					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)		GCAGACTGTTCGAGACCATCT	0.567																																						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.(3535-3537)Cga>Tga		golgi brefeldin A resistant guanine nucleotide exchange factor 1							235	187	203					10																	104130495		2203	4300	6503	SO:0001587	stop_gained	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.chr10:104130495C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3535C>T	10.37:g.104130495C>T	ENSP00000359000:p.Arg1179*		Somatic					p.R1179*	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)	29	3795	+		Colorectal(252;0.0236)	1179					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Nonsense_Mutation	SNP	ENST00000369983.3	37	c.3535C>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	43	10.273281	0.99372	.	.	ENSG00000107862	ENST00000369983	.	.	.	5.36	3.47	0.39725	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-1.9796	14.4869	0.67624	0.2687:0.7313:0.0:0.0	.	.	.	.	X	1179	.	ENSP00000359000:R1179X	R	+	1	2	GBF1	104120485	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.987000	0.49378	0.794000	0.33899	-0.181000	0.13052	CGA		0.567	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			30	69	0	0	0	1	0	30	69					T	104130495	C	T	104130495	4	4	48	1	0	0	0	0	0	1	0	0	6279	876	31	1	3645	1	GBF1	10	104130495	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	231356	104130495	31404252	2552	7020										
CYP17A1	1586	broad.mit.edu	37	chr10	104592872	104592872	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atctgaaagcagctctgagtCttgatctgggccagcattgc	11	10	4	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:104592872C>A	ENST00000369887.3	-	5	1018	c.847G>T	c.(847-849)Gac>Tac	p.D283Y	CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'Flank	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	283					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	AGCTCTGAGTCTTGATCTGGG	0.512																																						ENST00000369887.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(847-849)Gac>Tac		cytochrome P450, family 17, subfamily A, polypeptide 1	NADH(DB00157)|Progesterone(DB00396)						262	226	238					10																	104592872		2203	4300	6503	SO:0001583	missense	1586				androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	g.chr10:104592872C>A	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"Cytochrome P450s"	2593	protein-coding gene	gene with protein product	"Steroid 17-alpha-monooxygenase"	609300	"cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.847G>T	10.37:g.104592872C>A	ENSP00000358903:p.Asp283Tyr		Somatic				CYP17A1-AS1_ENST00000369884.4_RNA	p.D283Y	NM_000102.3	NP_000093.1	WXS	Illumina GAIIx	Phase_I	P05093	CP17A_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	5	1018	-		Colorectal(252;0.122)|all_hematologic(284;0.152)	283					Q5TZV7	Missense_Mutation	SNP	ENST00000369887.3	37	c.847G>T	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926712	0.34002	.	.	ENSG00000148795	ENST00000369887	T	0.73047	-0.71	5.21	3.11	0.35812	.	0.337533	0.34777	N	0.003696	T	0.76891	0.4051	M	0.67700	2.07	0.23454	N	0.997642	P	0.52463	0.953	P	0.57425	0.82	T	0.67872	-0.5558	10	0.62326	D	0.03	.	9.58	0.39481	0.0:0.804:0.0:0.196	.	283	P05093	CP17A_HUMAN	Y	283	ENSP00000358903:D283Y	ENSP00000358903:D283Y	D	-	1	0	CYP17A1	104582862	0.204000	0.23447	0.032000	0.17829	0.007000	0.05969	0.739000	0.26173	0.593000	0.29745	0.561000	0.74099	GAC		0.512	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102		27	55	1	0	1.33986e-20	1	1.83757e-20	27	55					A	104592872	C	A	104592872	3	1	48	1	0	0	0	0	1	0	0	0	4149	913	32	2	695	2	CYP17A1	10	104592872	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	462377	104592872	30941875	2553	7021										
INA	9118	broad.mit.edu	37	chr10	105037959	105037959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgagatcgagggcctgcgcGgggccaacgagtccttggag	17	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105037959G>A	ENST00000369849.4	+	1	1040	c.991G>A	c.(991-993)Ggg>Agg	p.G331R		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	331	Coil 2.|Rod.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GGGCCTGCGCGGGGCCAACGA	0.711																																						ENST00000369849.4																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13						c.(991-993)Ggg>Agg		internexin neuronal intermediate filament protein, alpha							13	12	12					10																	105037959		2194	4293	6487	SO:0001583	missense	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105037959G>A	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"Intermediate filaments type IV"	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.991G>A	10.37:g.105037959G>A	ENSP00000358865:p.Gly331Arg		Somatic					p.G331R	NM_032727.3	NP_116116.1	WXS	Illumina GAIIx	Phase_I	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	1	1040	+			331			Coil 2.|Rod.		B1AQK0|Q9BRC5	Missense_Mutation	SNP	ENST00000369849.4	37	c.991G>A	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861737	0.91433	.	.	ENSG00000148798	ENST00000369849	D	0.88741	-2.42	4.54	4.54	0.55810	Filament (1);	0.000000	0.85682	D	0.000000	D	0.94251	0.8154	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	D	0.94947	0.8096	10	0.87932	D	0	.	17.4425	0.87568	0.0:0.0:1.0:0.0	.	164;331	Q59EM6;Q16352	.;AINX_HUMAN	R	331	ENSP00000358865:G331R	ENSP00000358865:G331R	G	+	1	0	INA	105027949	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	3.925000	0.56484	2.508000	0.84585	0.561000	0.74099	GGG		0.711	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		5	11	0	0	0	1	0	5	11					A	105037959	G	A	105037959	3	1	48	1	0	0	0	0	1	0	0	0	7739	1116	39	1	993	1	INA	10	105037959	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	445087	105037959	30496788	2554	7022										
TAF5	6877	broad.mit.edu	37	chr10	105147069	105147069	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aactgtgcggctctgggacgTcctgaatggtaactgtgtaa	13	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105147069T>C	ENST00000369839.3	+	9	1990	c.1967T>C	c.(1966-1968)gTc>gCc	p.V656A	TAF5_ENST00000351396.4_Missense_Mutation_p.V601A	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	656					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)		CTCTGGGACGTCCTGAATGGT	0.413																																						ENST00000369839.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15						c.(1966-1968)gTc>gCc		TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa							93	94	94					10																	105147069		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.chr10:105147069T>C	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.1967T>C	10.37:g.105147069T>C	ENSP00000358854:p.Val656Ala		Somatic				TAF5_ENST00000351396.4_Missense_Mutation_p.V601A	p.V656A	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)	9	1990	+		Colorectal(252;0.0747)|Breast(234;0.128)	656					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	c.1967T>C	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	T	6.334	0.429682	0.11987	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	D;D	0.81739	-1.53;-1.53	5.52	4.39	0.52855	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	0.70325	0.3211	L	0.35414	1.06	0.58432	D	0.999998	P;P	0.38195	0.525;0.622	B;B	0.36092	0.217;0.152	T	0.68119	-0.5493	10	0.42905	T	0.14	-9.508	11.2872	0.49228	0.0:0.0714:0.0:0.9286	.	601;656	Q15542-2;Q15542	.;TAF5_HUMAN	A	656;601	ENSP00000358854:V656A;ENSP00000311024:V601A	ENSP00000311024:V601A	V	+	2	0	TAF5	105137059	1.000000	0.71417	0.982000	0.44146	0.002000	0.02628	7.685000	0.84117	0.923000	0.37045	-0.361000	0.07541	GTC		0.413	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			6	44	0	0	0	1	0	6	44					C	105147069	T	C	105147069	3	2	48	1	0	0	0	0	1	0	0	0	15543	1667	58	4	2001	4	TAF5	10	105147069	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	109110	105147069	30387678	2555	7023										
TAF5	6877	broad.mit.edu	37	chr10	105147784	105147784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcaatggataatacagttcGattatgggatgctatcaaag	9	5	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105147784G>A	ENST00000369839.3	+	11	2230	c.2207G>A	c.(2206-2208)cGa>cAa	p.R736Q	TAF5_ENST00000351396.4_Missense_Mutation_p.R681Q	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	736					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)		AATACAGTTCGATTATGGGAT	0.373																																						ENST00000369839.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15						c.(2206-2208)cGa>cAa		TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa							112	111	111					10																	105147784		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.chr10:105147784G>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.2207G>A	10.37:g.105147784G>A	ENSP00000358854:p.Arg736Gln		Somatic				TAF5_ENST00000351396.4_Missense_Mutation_p.R681Q	p.R736Q	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)	11	2230	+		Colorectal(252;0.0747)|Breast(234;0.128)	736					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	c.2207G>A	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970174	0.53614	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.67865	-0.29;-0.29	5.79	5.79	0.91817	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	0.62672	0.2447	L	0.55990	1.75	0.80722	D	1	P;D	0.53151	0.876;0.958	B;B	0.41299	0.176;0.353	T	0.68176	-0.5478	10	0.62326	D	0.03	-9.7146	14.2241	0.65848	0.0711:0.0:0.9289:0.0	.	681;736	Q15542-2;Q15542	.;TAF5_HUMAN	Q	736;681	ENSP00000358854:R736Q;ENSP00000311024:R681Q	ENSP00000311024:R681Q	R	+	2	0	TAF5	105137774	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.424000	0.73366	2.741000	0.93983	0.557000	0.71058	CGA		0.373	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			21	45	0	0	0	1	0	21	45					A	105147784	G	A	105147784	3	1	48	1	0	0	0	0	1	0	0	0	15543	1058	37	1	2249	1	TAF5	10	105147784	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	715	105147784	30386963	2556	7024										
PDCD11	22984	broad.mit.edu	37	chr10	105158249	105158249	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atccacaaaccagagaaagcTttccagcagtcagttgaaca	7	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105158249T>G	ENST00000369797.3	+	2	160	c.66T>G	c.(64-66)gcT>gcG	p.A22A	USMG5_ENST00000369825.1_5'Flank|USMG5_ENST00000369811.1_5'Flank|USMG5_ENST00000337003.4_5'Flank|USMG5_ENST00000369815.1_5'Flank|USMG5_ENST00000309579.3_5'Flank	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	22					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)		CAGAGAAAGCTTTCCAGCAGT	0.403																																						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.(64-66)gcT>gcG		programmed cell death 11							138	128	131					10																	105158249		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105158249T>G	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.66T>G	10.37:g.105158249T>G			Somatic					p.A22A	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)	2	160	+		Colorectal(252;0.0747)|Breast(234;0.128)	22					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.66T>G	CCDS31276.1																																																																																				0.403	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			30	57	0	0	0	1	0	30	57					G	105158249	T	G	105158249	2	3	48	1	0	0	0	0	0	0	0	1	11626	1596	56	4		4	PDCD11	10	105158249	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	10465	105158249	30376498	2557	7025										
OBFC1	79991	broad.mit.edu	37	chr10	105648830	105648830	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgtacattataccacttacGatttggtttctggcagtcct	7	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105648830G>A	ENST00000224950.3	-	9	1116	c.949C>T	c.(949-951)Cac>Tac	p.H317Y	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Splice_Site_p.H317Y	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	317	Winged helix-turn-helix (wHTH) 2.				positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)	p.H317Y(2)		large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TACCACTTACGATTTGGTTTC	0.498																																						ENST00000224950.3																			2	Substitution - Missense(2)	p.H317Y(2)	large_intestine(1)|lung(1)	large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13						c.e9+1		oligonucleotide/oligosaccharide-binding fold containing 1							161	152	155					10																	105648830		2203	4300	6503	SO:0001630	splice_region_variant	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105648830G>A	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.949+1C>T	10.37:g.105648830G>A			Somatic				OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Splice_Site_p.H317_splice	p.H317_splice	NM_024928.4	NP_079204.2	WXS	Illumina GAIIx	Phase_I	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	9	1116	-		Colorectal(252;0.178)	317					D3DR99|Q5TCZ0	Splice_Site	SNP	ENST00000224950.3	37	c.949_splice	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287058	0.23478	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.45276	0.9;0.9	5.25	4.34	0.51931	Domain of unknown function DUF1879, CTS complex STN1 subunit (1);	0.477946	0.24901	N	0.034691	T	0.37019	0.0988	L	0.55834	1.745	0.46927	D	0.999255	B	0.19817	0.039	B	0.15484	0.013	T	0.13072	-1.0523	9	.	.	.	-1.636	11.9209	0.52791	0.0861:0.0:0.9139:0.0	.	317	Q9H668	STN1_HUMAN	Y	317	ENSP00000224950:H317Y;ENSP00000358779:H317Y	.	H	-	1	0	OBFC1	105638820	1.000000	0.71417	0.951000	0.38953	0.880000	0.50808	4.332000	0.59279	1.186000	0.42985	0.561000	0.74099	CAC		0.498	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928	Missense_Mutation	18	32	0	0	0	1	0	18	32					A	105648830	G	A	105648830	5	1	48	1	0	0	0	0	0	0	1	0	10816	1072	37	1	165	1	OBFC1	10	105648830	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	490581	105648830	29885917	2558	7026										
C10orf78	119392	broad.mit.edu	37	chr10	105885398	105885398	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttactcaattgatagaccActatgggttagatgataaat	7	7	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105885398A>G	ENST00000369727.3	+	4	693	c.674A>G	c.(673-675)cAc>cGc	p.H225R	SFR1_ENST00000369729.3_Missense_Mutation_p.H212R|SFR1_ENST00000336358.5_Missense_Mutation_p.H287R	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	225					double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											TTGATAGACCACTATGGGTTA	0.353																																						ENST00000336358.5																			0											c.(859-861)cAc>cGc		SWI5-dependent recombination repair 1							80	83	82					10																	105885398		2203	4300	6503	SO:0001583	missense	119392				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr10:105885398A>G	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.674A>G	10.37:g.105885398A>G	ENSP00000358742:p.His225Arg		Somatic				SFR1_ENST00000369729.3_Missense_Mutation_p.H212R|SFR1_ENST00000369727.3_Missense_Mutation_p.H225R	p.H287R			WXS	Illumina GAIIx	Phase_I	Q86XK3	SFR1_HUMAN			3	1379	+			225					A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Missense_Mutation	SNP	ENST00000369727.3	37	c.860A>G	CCDS31279.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.594511	0.28445	.	.	ENSG00000156384	ENST00000369729;ENST00000369727;ENST00000336358	T;T;T	0.45668	0.91;0.92;0.89	5.24	2.81	0.32909	.	1.042200	0.07452	N	0.899228	T	0.38295	0.1035	L	0.58101	1.795	0.22728	N	0.998804	P;P	0.41265	0.744;0.662	B;B	0.40825	0.341;0.239	T	0.29181	-1.0020	10	0.38643	T	0.18	0.0387	2.617	0.04907	0.5509:0.1395:0.0711:0.2385	.	287;225	Q86XK3-2;Q86XK3	.;SFR1_HUMAN	R	212;225;287	ENSP00000358744:H212R;ENSP00000358742:H225R;ENSP00000338089:H287R	ENSP00000338089:H287R	H	+	2	0	SFR1	105875388	0.050000	0.20438	0.980000	0.43619	0.976000	0.68499	0.683000	0.25349	0.470000	0.27294	0.524000	0.50904	CAC		0.353	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050191.1	NM_145247		12	29	0	0	0	1	0	12	29					G	105885398	A	G	105885398	3	3	48	1	0	0	0	0	1	0	0	0	1619	159	6	4	688	4	C10orf78	10	105885398	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	236568	105885398	29649349	2559	7027										
C10orf79	80217	broad.mit.edu	37	chr10	105907729	105907729	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcatccaacaataaagaaaAtgcaaggttacttattttca	4	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105907729A>G	ENST00000357060.3	-	29	3803	c.3688T>C	c.(3688-3690)Ttt>Ctt	p.F1230L	WDR96_ENST00000428666.1_Missense_Mutation_p.F1231L	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						AATAAAGAAAATGCAAGGTTA	0.338																																						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.(3688-3690)Ttt>Ctt		WD repeat domain 96							82	81	81					10																	105907729		2200	4299	6499	SO:0001583	missense	80217							g.chr10:105907729A>G																												ENST00000357060.3:c.3688T>C	10.37:g.105907729A>G	ENSP00000349568:p.Phe1230Leu		Somatic				WDR96_ENST00000428666.1_Missense_Mutation_p.F1231L	p.F1230L	NM_025145.5	NP_079421.5	WXS	Illumina GAIIx	Phase_I	Q8NDM7	WDR96_HUMAN			29	3803	-			1230						Missense_Mutation	SNP	ENST00000357060.3	37	c.3688T>C	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.370944	0.42003	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	T;T	0.13307	2.63;2.6	6.07	6.07	0.98685	.	0.449602	0.26546	N	0.023771	T	0.11836	0.0288	L	0.33189	0.99	0.31465	N	0.669114	B;B	0.16166	0.004;0.016	B;B	0.17722	0.007;0.019	T	0.11891	-1.0569	10	0.11485	T	0.65	.	15.6232	0.76824	1.0:0.0:0.0:0.0	.	1231;1230	G5E9L1;Q8NDM7	.;WDR96_HUMAN	L	1230;1231	ENSP00000349568:F1230L;ENSP00000400289:F1231L	ENSP00000349568:F1230L	F	-	1	0	WDR96	105897719	1.000000	0.71417	0.892000	0.35008	0.556000	0.35491	4.809000	0.62591	2.326000	0.78906	0.533000	0.62120	TTT		0.338	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	21	0	0	0	1	0	7	21					G	105907729	A	G	105907729	3	3	48	1	0	0	0	0	1	0	0	0	1620	101	4	4	1349	4	C10orf79	10	105907729	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	22331	105907729	29627018	2560	7028										
C10orf79	80217	broad.mit.edu	37	chr10	105923953	105923953	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagatctaaaataatttctcGaattcgaacatttctttcct	3	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105923953G>A	ENST00000357060.3	-	24	3260	c.3145C>T	c.(3145-3147)Cga>Tga	p.R1049*	WDR96_ENST00000428666.1_Nonsense_Mutation_p.R1050*	NM_025145.5	NP_079421.5												p.R1049*(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATAATTTCTCGAATTCGAACA	0.373																																						ENST00000357060.3																			1	Substitution - Nonsense(1)	p.R1049*(1)	large_intestine(1)	NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3145-3147)Cga>Tga		WD repeat domain 96							126	111	116					10																	105923953		2203	4299	6502	SO:0001587	stop_gained	80217							g.chr10:105923953G>A																												ENST00000357060.3:c.3145C>T	10.37:g.105923953G>A	ENSP00000349568:p.Arg1049*		Somatic				WDR96_ENST00000428666.1_Nonsense_Mutation_p.R1050*	p.R1049*	NM_025145.5	NP_079421.5	WXS	Illumina GAIIx	Phase_I	Q8NDM7	WDR96_HUMAN			24	3260	-			1049						Nonsense_Mutation	SNP	ENST00000357060.3	37	c.3145C>T	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	G	40	8.380088	0.98786	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	.	.	.	6.06	-5.27	0.02763	.	0.833329	0.10859	N	0.626352	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	5.8204	0.18524	0.0596:0.3319:0.1974:0.4112	.	.	.	.	X	1049;1050	.	ENSP00000349568:R1049X	R	-	1	2	WDR96	105913943	0.097000	0.21791	0.801000	0.32222	0.939000	0.58152	0.230000	0.17852	-0.441000	0.07201	0.650000	0.86243	CGA		0.373	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				10	29	0	0	0	1	0	10	29					A	105923953	G	A	105923953	4	1	48	1	0	0	0	0	0	1	0	0	1620	1066	37	1	1912	1	C10orf79	10	105923953	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	16224	105923953	29610794	2561	7029										
CCDC147	159686	broad.mit.edu	37	chr10	106209891	106209891	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaatataaatatgaggtagaGaaacttaccaatgagctcca	8	6	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:106209891G>T	ENST00000369704.3	+	17	2573	c.2439G>T	c.(2437-2439)gaG>gaT	p.E813D		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		813						extracellular space (GO:0005615)				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)		ATGAGGTAGAGAAACTTACCA	0.318																																						ENST00000369704.3																			0				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.(2437-2439)gaG>gaT		coiled-coil domain containing 147							75	80	78					10																	106209891		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106209891G>T																												ENST00000369704.3:c.2439G>T	10.37:g.106209891G>T	ENSP00000358718:p.Glu813Asp		Somatic					p.E813D	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)	17	2573	+		Colorectal(252;0.103)|Breast(234;0.122)	813					D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.2439G>T	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.697624	0.30142	.	.	ENSG00000120051	ENST00000369704	T	0.49720	0.77	5.76	1.9	0.25705	.	0.167173	0.52532	D	0.000078	T	0.36386	0.0965	L	0.53780	1.695	0.80722	D	1	B	0.12013	0.005	B	0.14578	0.011	T	0.10800	-1.0614	10	0.14252	T	0.57	-17.6311	8.1845	0.31330	0.4332:0.0:0.5668:0.0	.	813	Q5T655	CC147_HUMAN	D	813	ENSP00000358718:E813D	ENSP00000358718:E813D	E	+	3	2	CCDC147	106199881	1.000000	0.71417	0.984000	0.44739	0.673000	0.39480	0.841000	0.27613	0.374000	0.24650	0.650000	0.86243	GAG		0.318	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			24	48	1	0	1.85244e-09	1	2.22951e-09	24	48					T	106209891	G	T	106209891	3	4	48	1	0	0	0	0	1	0	0	0	2783	933	33	2	2505	2	CCDC147	10	106209891	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	285938	106209891	29324856	2562	7030										
SMC3	9126	broad.mit.edu	37	chr10	112361580	112361580	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagagtgtatgaagaaaattCgagaacttggatcacttccc	9	7	1	4	rs139627416		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:112361580C>T	ENST00000361804.4	+	24	2956	c.2830C>T	c.(2830-2832)Cga>Tga	p.R944*		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	944					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.R944*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GAAGAAAATTCGAGAACTTGG	0.368																																						ENST00000361804.4																			1	Substitution - Nonsense(1)	p.R944*(1)	skin(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2830-2832)Cga>Tga		structural maintenance of chromosomes 3							85	92	90					10																	112361580		2201	4300	6501	SO:0001587	stop_gained	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112361580C>T	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2830C>T	10.37:g.112361580C>T	ENSP00000354720:p.Arg944*		Somatic					p.R944*	NM_005445.3	NP_005436.1	WXS	Illumina GAIIx	Phase_I	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	24	2956	+		Breast(234;0.0848)|Lung NSC(174;0.238)	944					A8K156|O60464|Q5T482	Nonsense_Mutation	SNP	ENST00000361804.4	37	c.2830C>T	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	C	40	7.986500	0.98596	.	.	ENSG00000108055	ENST00000361804	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0664	0.71999	0.1425:0.8575:0.0:0.0	.	.	.	.	X	944	.	ENSP00000354720:R944X	R	+	1	2	SMC3	112351570	0.929000	0.31497	1.000000	0.80357	0.998000	0.95712	1.696000	0.37773	2.663000	0.90544	0.585000	0.79938	CGA		0.368	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		24	57	0	0	0	1	0	24	57					T	112361580	C	T	112361580	4	4	48	1	0	0	0	0	0	1	0	0	14799	876	31	1	2924	1	SMC3	10	112361580	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	6151689	112361580	23173167	2563	7031										
ACSL5	51703	broad.mit.edu	37	chr10	114169443	114169443	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttatccctatatgatgctgaGgtatggatctgaaatttagc	9	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:114169443G>A	ENST00000393081.1	+	7	1018	c.711G>A	c.(709-711)gaG>gaA	p.E237E	ACSL5_ENST00000354273.4_Splice_Site_p.E237E|RP11-324O2.3_ENST00000594870.2_RNA|ACSL5_ENST00000369410.3_5'UTR|ACSL5_ENST00000433418.1_Splice_Site_p.E237E|ACSL5_ENST00000356116.1_Splice_Site_p.E293E|ACSL5_ENST00000354655.4_Splice_Site_p.E237E|RP11-324O2.3_ENST00000598447.1_RNA|RP11-324O2.3_ENST00000449782.2_RNA|RP11-324O2.6_ENST00000424422.1_RNA	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	237					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ATGATGCTGAGGTATGGATCT	0.468																																						ENST00000393081.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21						c.e7+1		acyl-CoA synthetase long-chain family member 5							144	128	133					10																	114169443		2203	4300	6503	SO:0001630	splice_region_variant	51703				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr10:114169443G>A	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"Acyl-CoA synthetase family"	16526	protein-coding gene	gene with protein product	"FACL5 for fatty acid coenzyme A ligase 5", "long-chain acyl-CoA synthetase 5", "long-chain fatty acid coenzyme A ligase 5", "fatty-acid-Coenzyme A ligase, long-chain 5"	605677	"fatty-acid-Coenzyme A ligase, long-chain 5"	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.711+1G>A	10.37:g.114169443G>A			Somatic				ACSL5_ENST00000354273.4_Splice_Site_p.E237_splice|ACSL5_ENST00000433418.1_Splice_Site_p.E237_splice|ACSL5_ENST00000354655.4_Splice_Site_p.E237_splice|ACSL5_ENST00000369410.3_5'UTR|ACSL5_ENST00000356116.1_Splice_Site_p.E293_splice	p.E237_splice	NM_203380.1	NP_976314.1	WXS	Illumina GAIIx	Phase_I	Q9ULC5	ACSL5_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.137)	7	1018	+		Colorectal(252;0.117)|Breast(234;0.222)	237					A6GV77|D3DRB3|Q6UX44|Q9UIU4	Splice_Site	SNP	ENST00000393081.1	37	c.711_splice	CCDS7573.1																																																																																				0.468	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234	Silent	30	85	0	0	0	1	0	30	85					A	114169443	G	A	114169443	5	1	48	1	0	0	0	0	0	0	1	0	180	1014	35	3	905	3	ACSL5	10	114169443	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1807863	114169443	21365304	2564	7032										
TCF7L2	6934	broad.mit.edu	37	chr10	114912121	114912121	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtccagagaagagcaagcGaaatactacgagctggcccg	12	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:114912121G>A	ENST00000355995.4	+	11	1698	c.1191G>A	c.(1189-1191)gcG>gcA	p.A397A	TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000542695.1_Silent_p.A113A|TCF7L2_ENST00000545257.1_Silent_p.A397A|TCF7L2_ENST00000355717.4_Silent_p.A421A|TCF7L2_ENST00000534894.1_Silent_p.A397A|TCF7L2_ENST00000543371.1_Silent_p.A397A|TCF7L2_ENST00000352065.5_Silent_p.A374A|TCF7L2_ENST00000536810.1_Silent_p.A397A|TCF7L2_ENST00000369397.4_Silent_p.A374A|TCF7L2_ENST00000538897.1_Silent_p.A397A|TCF7L2_ENST00000369389.1_Silent_p.A108A|TCF7L2_ENST00000369386.1_Silent_p.A40A			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	397					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)	p.A397A(1)|p.A374A(1)	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)		AAGAGCAAGCGAAATACTACG	0.502			T	VTI1A	colorectal																																	ENST00000355995.4				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	2	Substitution - coding silent(2)	p.A397A(1)|p.A374A(1)	large_intestine(2)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1189-1191)gcG>gcA		transcription factor 7-like 2 (T-cell specific, HMG-box)							186	192	190					10																	114912121		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.chr10:114912121G>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.1191G>A	10.37:g.114912121G>A			Somatic				TCF7L2_ENST00000542695.1_Silent_p.A113A|TCF7L2_ENST00000543371.1_Silent_p.A397A|TCF7L2_ENST00000536810.1_Silent_p.A397A|TCF7L2_ENST00000538897.1_Silent_p.A397A|TCF7L2_ENST00000369397.4_Silent_p.A374A|TCF7L2_ENST00000355717.4_Silent_p.A421A|TCF7L2_ENST00000369386.1_Silent_p.A40A|TCF7L2_ENST00000352065.5_Silent_p.A374A|TCF7L2_ENST00000369389.1_Silent_p.A108A|TCF7L2_ENST00000545257.1_Silent_p.A397A|TCF7L2_ENST00000534894.1_Silent_p.A397A|TCF7L2_ENST00000466338.1_3'UTR	p.A397A			WXS	Illumina GAIIx	Phase_I	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	11	1698	+		Breast(234;0.058)|Colorectal(252;0.0615)	397					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.1191G>A																																																																																					0.502	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		101	237	0	0	0	1	0	101	237					A	114912121	G	A	114912121	2	1	48	1	0	0	0	0	0	0	0	1	15713	1045	37	1		1	TCF7L2	10	114912121	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	742678	114912121	20622626	2565	7033										
HABP2	3026	broad.mit.edu	37	chr10	115335708	115335708	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggggactgcctcgtccatggGagcaccttcacatgcagctg	13	13	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115335708G>A	ENST00000351270.3	+	4	372	c.276G>A	c.(274-276)ggG>ggA	p.G92G	HABP2_ENST00000542051.1_Silent_p.G66G|HABP2_ENST00000541666.1_Silent_p.G92G|HABP2_ENST00000537906.1_Missense_Mutation_p.G81E	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	92	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	TCGTCCATGGGAGCACCTTCA	0.527																																						ENST00000537906.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(241-243)gGa>gAa		hyaluronan binding protein 2							207	175	186					10																	115335708		2203	4300	6503	SO:0001819	synonymous_variant	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115335708G>A		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"plasma hyaluronan binding protein", "factor VII activating protein"	603924	"hyaluronan-binding protein 2"			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.276G>A	10.37:g.115335708G>A			Somatic				HABP2_ENST00000351270.3_Silent_p.G92G|HABP2_ENST00000541666.1_Silent_p.G92G|HABP2_ENST00000542051.1_Silent_p.G66G	p.G81E			WXS	Illumina GAIIx	Phase_I	Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	5	404	+		Colorectal(252;0.0233)|Breast(234;0.0672)	0			EGF-like 1.		A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.242G>A	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	G	8.853	0.945144	0.18356	.	.	ENSG00000148702	ENST00000537906	.	.	.	5.93	3.84	0.44239	.	0.108147	0.64402	D	0.000005	T	0.23289	0.0563	.	.	.	0.09310	N	1	P	0.41673	0.759	B	0.37451	0.25	T	0.28554	-1.0040	8	0.87932	D	0	.	4.2944	0.10894	0.1351:0.0:0.6424:0.2225	.	81	F5H475	.	E	81	.	ENSP00000446135:G81E	G	+	2	0	HABP2	115325698	0.200000	0.23398	0.094000	0.20943	0.002000	0.02628	0.519000	0.22862	2.814000	0.96858	0.563000	0.77884	GGA		0.527	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		58	117	0	0	0	1	0	58	117					A	115335708	G	A	115335708	2	1	48	1	0	0	0	0	0	0	0	1	6947	1161	41	3		3	HABP2	10	115335708	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	423587	115335708	20199039	2566	7034										
HABP2	3026	broad.mit.edu	37	chr10	115337894	115337894	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaccagttcaaggggaaattCtgtgaaataggtatgggtct	13	5	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115337894C>A	ENST00000351270.3	+	6	654	c.558C>A	c.(556-558)ttC>ttA	p.F186L	HABP2_ENST00000542051.1_Missense_Mutation_p.F160L|HABP2_ENST00000541666.1_Missense_Mutation_p.F186L|HABP2_ENST00000537906.1_Missense_Mutation_p.S175Y	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	186	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	AGGGGAAATTCTGTGAAATAG	0.537																																						ENST00000351270.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(556-558)ttC>ttA		hyaluronan binding protein 2							90	83	85					10																	115337894		2203	4300	6503	SO:0001583	missense	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115337894C>A		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"plasma hyaluronan binding protein", "factor VII activating protein"	603924	"hyaluronan-binding protein 2"			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.558C>A	10.37:g.115337894C>A	ENSP00000277903:p.Phe186Leu		Somatic				HABP2_ENST00000537906.1_Missense_Mutation_p.S175Y|HABP2_ENST00000541666.1_Missense_Mutation_p.F186L|HABP2_ENST00000542051.1_Missense_Mutation_p.F160L	p.F186L	NM_004132.3	NP_004123.1	WXS	Illumina GAIIx	Phase_I	Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	6	654	+		Colorectal(252;0.0233)|Breast(234;0.0672)	186			EGF-like 3.		A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.558C>A	CCDS7577.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.67|10.67	1.415161|1.415161	0.25552|0.25552	.|.	.|.	ENSG00000148702|ENSG00000148702	ENST00000542051;ENST00000351270;ENST00000541666|ENST00000537906	T;T;T|.	0.41400|.	1.0;1.0;1.0|.	5.54|5.54	3.61|3.61	0.41365|0.41365	Kringle-like fold (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);|.	0.264640|.	0.44688|.	N|.	0.000423|.	T|T	0.24699|0.24699	0.0599|0.0599	N|N	0.25890|0.25890	0.77|0.77	0.23204|0.23204	N|N	0.998127|0.998127	B|B	0.24317|0.33448	0.101|0.412	B|B	0.28465|0.32583	0.09|0.148	T|T	0.18147|0.18147	-1.0346|-1.0346	10|8	0.30078|0.87932	T|D	0.28|0	.|.	6.6262|6.6262	0.22830|0.22830	0.2766:0.6083:0.0:0.1151|0.2766:0.6083:0.0:0.1151	.|.	186|175	Q14520|F5H475	HABP2_HUMAN|.	L|Y	160;186;186|175	ENSP00000443283:F160L;ENSP00000277903:F186L;ENSP00000438373:F186L|.	ENSP00000277903:F186L|ENSP00000446135:S175Y	F|S	+|+	3|2	2|0	HABP2|HABP2	115327884|115327884	0.999000|0.999000	0.42202|0.42202	0.986000|0.986000	0.45419|0.45419	0.400000|0.400000	0.30750|0.30750	0.699000|0.699000	0.25586|0.25586	1.332000|1.332000	0.45431|0.45431	0.563000|0.563000	0.77884|0.77884	TTC|TCT		0.537	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		33	34	1	0	3.62531e-18	1	4.89791e-18	33	34					A	115337894	C	A	115337894	3	1	48	1	0	0	0	0	1	0	0	0	6947	912	32	2	580	2	HABP2	10	115337894	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2186	115337894	20196853	2567	7035										
NRAP	4892	broad.mit.edu	37	chr10	115389405	115389405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttcatatcttcaggcagcAcagtgtattcatgcagtttc	7	10	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115389405A>G	ENST00000359988.3	-	19	2226	c.1982T>C	c.(1981-1983)gTg>gCg	p.V661A	NRAP_ENST00000360478.3_Missense_Mutation_p.V626A|NRAP_ENST00000369358.4_Missense_Mutation_p.V669A|NRAP_ENST00000369360.3_Missense_Mutation_p.V634A	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)		TTCAGGCAGCACAGTGTATTC	0.498																																						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.(2005-2007)gTg>gCg		nebulin-related anchoring protein							134	119	124					10																	115389405		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115389405A>G		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1982T>C	10.37:g.115389405A>G	ENSP00000353078:p.Val661Ala		Somatic				NRAP_ENST00000360478.3_Missense_Mutation_p.V626A|NRAP_ENST00000369360.3_Missense_Mutation_p.V634A|NRAP_ENST00000359988.3_Missense_Mutation_p.V661A	p.V669A			WXS	Illumina GAIIx	Phase_I	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	19	2250	-		Colorectal(252;0.0233)|Breast(234;0.188)	661						Missense_Mutation	SNP	ENST00000359988.3	37	c.2006T>C	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.171118	0.38315	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.19	2.87	0.33458	.	0.186095	0.47093	D	0.000248	T	0.27384	0.0672	L	0.45422	1.42	0.31960	N	0.608503	B;B;B	0.22003	0.038;0.063;0.038	B;B;B	0.31946	0.097;0.138;0.066	T	0.25916	-1.0118	10	0.18710	T	0.47	.	4.8606	0.13581	0.7162:0.0:0.1474:0.1364	.	661;626;661	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	A	669;634;661;626	ENSP00000358365:V669A;ENSP00000358367:V634A;ENSP00000353078:V661A;ENSP00000353666:V626A	ENSP00000353078:V661A	V	-	2	0	NRAP	115379395	1.000000	0.71417	0.384000	0.26145	0.877000	0.50540	5.298000	0.65710	0.396000	0.25283	0.459000	0.35465	GTG		0.498	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		27	53	0	0	0	1	0	27	53					G	115389405	A	G	115389405	3	3	48	1	0	0	0	0	1	0	0	0	10647	159	6	4	3306	4	NRAP	10	115389405	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	51511	115389405	20145342	2568	7036										
NRAP	4892	broad.mit.edu	37	chr10	115413816	115413816	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgagcctcaaccatccttacAatttcggggtctggcagagc	10	13	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115413816A>G	ENST00000359988.3	-	5	673	c.429T>C	c.(427-429)atT>atC	p.I143I	NRAP_ENST00000360478.3_Silent_p.I143I|NRAP_ENST00000369358.4_Silent_p.I143I|NRAP_ENST00000369360.3_Silent_p.I143I	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)		CCATCCTTACAATTTCGGGGT	0.453																																						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.(427-429)atT>atC		nebulin-related anchoring protein							223	227	226					10																	115413816		2203	4300	6503	SO:0001819	synonymous_variant	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115413816A>G		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.429T>C	10.37:g.115413816A>G			Somatic				NRAP_ENST00000360478.3_Silent_p.I143I|NRAP_ENST00000369360.3_Silent_p.I143I|NRAP_ENST00000359988.3_Silent_p.I143I	p.I143I			WXS	Illumina GAIIx	Phase_I	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	5	673	-		Colorectal(252;0.0233)|Breast(234;0.188)	143						Silent	SNP	ENST00000359988.3	37	c.429T>C	CCDS7579.1																																																																																				0.453	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		79	139	0	0	0	1	0	79	139					G	115413816	A	G	115413816	2	3	48	1	0	0	0	0	0	0	0	1	10647	126	5	4		4	NRAP	10	115413816	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	24411	115413816	20120931	2569	7037										
CASP7	840	broad.mit.edu	37	chr10	115489079	115489079	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctgttgaaggctattactCgtggaggagcccaggaagag	14	8	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115489079C>T	ENST00000345633.4	+	8	1076	c.692C>T	c.(691-693)tCg>tTg	p.S231L	CASP7_ENST00000369315.1_Missense_Mutation_p.S231L|CASP7_ENST00000369318.3_Missense_Mutation_p.S231L|CASP7_ENST00000369331.4_Missense_Mutation_p.R220C|CASP7_ENST00000369321.2_Missense_Mutation_p.S264L|CASP7_ENST00000452490.2_Missense_Mutation_p.S206L	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	231					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|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 (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		GGCTATTACTCGTGGAGGAGC	0.507																																						ENST00000369321.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8						c.(790-792)tCg>tTg		caspase 7, apoptosis-related cysteine peptidase							93	100	98					10																	115489079		2203	4300	6503	SO:0001583	missense	840				activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr10:115489079C>T	U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"Caspases"	1508	protein-coding gene	gene with protein product		601761	"caspase 7, apoptosis-related cysteine protease"			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.692C>T	10.37:g.115489079C>T	ENSP00000298701:p.Ser231Leu		Somatic				CASP7_ENST00000369331.4_Missense_Mutation_p.R220C|CASP7_ENST00000452490.2_Missense_Mutation_p.S206L|CASP7_ENST00000369315.1_Missense_Mutation_p.S231L|CASP7_ENST00000345633.4_Missense_Mutation_p.S231L|CASP7_ENST00000369318.3_Missense_Mutation_p.S231L	p.S264L	NM_033338.5	NP_203124.1	WXS	Illumina GAIIx	Phase_I	P55210	CASP7_HUMAN		Epithelial(162;0.012)|all cancers(201;0.014)	8	1111	+		Colorectal(252;0.0946)|Breast(234;0.188)	231					B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Missense_Mutation	SNP	ENST00000345633.4	37	c.791C>T	CCDS7581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.815489|4.815489	0.90790|0.90790	.|.	.|.	ENSG00000165806|ENSG00000165806	ENST00000369331|ENST00000369321;ENST00000345633;ENST00000369318;ENST00000442393;ENST00000369315;ENST00000452490	T|T;T;T;T;T	0.08282|0.39056	3.11|1.1;1.1;1.1;1.1;1.1	5.85|5.85	5.85|5.85	0.93711|0.93711	.|Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69424|0.69424	0.3109|0.3109	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|D;D;D;D	0.65815|0.89917	0.995|1.0;1.0;1.0;1.0	P|D;D;D;D	0.50708|0.91635	0.648|0.998;0.992;0.998;0.999	T|T	0.71771|0.71771	-0.4492|-0.4492	8|9	0.72032|0.87932	D|D	0.01|0	.|.	20.1731|20.1731	0.98165|0.98165	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	220|206;239;264;231	P55210-2|B4DQU7;B4DWA2;P55210-3;P55210	.|.;.;.;CASP7_HUMAN	C|L	220|264;231;231;192;231;206	ENSP00000358337:R220C|ENSP00000358327:S264L;ENSP00000298701:S231L;ENSP00000358324:S231L;ENSP00000358321:S231L;ENSP00000398107:S206L	ENSP00000358337:R220C|ENSP00000298701:S231L	R|S	+|+	1|2	0|0	CASP7|CASP7	115479069|115479069	1.000000|1.000000	0.71417|0.71417	0.920000|0.920000	0.36463|0.36463	0.416000|0.416000	0.31233|0.31233	7.770000|7.770000	0.85390|0.85390	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.507	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050439.1	NM_033338		26	56	0	0	0	1	0	26	56					T	115489079	C	T	115489079	3	4	48	1	0	0	0	0	1	0	0	0	2678	893	31	1	895	1	CASP7	10	115489079	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	75263	115489079	20045668	2570	7038										
C10orf81	79949	broad.mit.edu	37	chr10	115527103	115527103	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttgtgtctatatctaataGaaattccagtgtagaagttg	8	5	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115527103G>T	ENST00000369310.3	+	4	768		c.e4-1		PLEKHS1_ENST00000369312.4_Splice_Site|PLEKHS1_ENST00000361048.1_Splice_Site	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1																		ATATCTAATAGAAATTCCAGT	0.338																																						ENST00000361048.1																			0											c.e5-1		pleckstrin homology domain containing, family S member 1							58	60	59					10																	115527103		2202	4300	6502	SO:0001630	splice_region_variant	79949							g.chr10:115527103G>T	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"Pleckstrin homology (PH) domain containing"	26285	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 81"	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.207-1G>T	10.37:g.115527103G>T			Somatic				PLEKHS1_ENST00000369310.3_Splice_Site|PLEKHS1_ENST00000369312.4_Splice_Site		NM_024889.4	NP_079165.3	WXS	Illumina GAIIx	Phase_I					5	551	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Splice_Site	SNP	ENST00000369310.3	37		CCDS53580.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697896	0.48307	.	.	ENSG00000148735	ENST00000361048;ENST00000369310	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9613	0.89086	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C10orf81	115517093	1.000000	0.71417	0.947000	0.38551	0.556000	0.35491	5.815000	0.69215	2.768000	0.95171	0.655000	0.94253	.		0.338	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889	Intron	7	17	1	0	8.12818e-05	1	8.79784e-05	7	17					T	115527103	G	T	115527103	5	4	48	1	0	0	0	0	0	0	1	0	1621	956	33	2	238	2	C10orf81	10	115527103	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	38024	115527103	20007644	2571	7039										
C10orf81	79949	broad.mit.edu	37	chr10	115529640	115529640	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttggctccagctcaccaaGaaatggtctccaagacaagg	10	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115529640G>T	ENST00000369310.3	+	6	1077	c.515G>T	c.(514-516)aGa>aTa	p.R172I	PLEKHS1_ENST00000369309.1_5'Flank|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.R90I|PLEKHS1_ENST00000354462.3_5'Flank|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.R178I	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	172																	AGCTCACCAAGAAATGGTCTC	0.488																																						ENST00000361048.1																			0											c.(532-534)aGa>aTa		pleckstrin homology domain containing, family S member 1							111	106	108					10																	115529640		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115529640G>T	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"Pleckstrin homology (PH) domain containing"	26285	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 81"	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.515G>T	10.37:g.115529640G>T	ENSP00000358316:p.Arg172Ile		Somatic				PLEKHS1_ENST00000369310.3_Missense_Mutation_p.R172I|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.R90I	p.R178I	NM_024889.4	NP_079165.3	WXS	Illumina GAIIx	Phase_I					7	860	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	c.533G>T	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821249	0.71028	.	.	ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310	T;T;T	0.31769	1.48;1.48;1.48	5.93	5.93	0.95920	.	0.640013	0.16167	N	0.226470	T	0.56396	0.1982	M	0.72479	2.2	0.46798	D	0.999202	D;D;D	0.89917	1.0;0.993;1.0	D;P;D	0.76575	0.984;0.89;0.988	T	0.53092	-0.8487	10	0.59425	D	0.04	-20.6924	15.8369	0.78805	0.0:0.0:1.0:0.0	.	172;172;178	Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	.;.;.	I	178;90;172	ENSP00000354332:R178I;ENSP00000358318:R90I;ENSP00000358316:R172I	ENSP00000354332:R178I	R	+	2	0	C10orf81	115519630	0.033000	0.19621	0.122000	0.21767	0.010000	0.07245	1.180000	0.32005	2.805000	0.96524	0.655000	0.94253	AGA		0.488	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		15	103	1	0	3.52763e-06	1	3.92945e-06	15	103					T	115529640	G	T	115529640	3	4	48	1	0	0	0	0	1	0	0	0	1621	942	33	2	555	2	C10orf81	10	115529640	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2537	115529640	20005107	2572	7040										
FAM160B1	57700	broad.mit.edu	37	chr10	116593063	116593063	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttagatatactggttcaaGaagaaaatgaacgggaatct	10	4	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:116593063G>T	ENST00000369248.4	+	3	531	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	FAM160B1_ENST00000369246.1_Nonsense_Mutation_p.E66*|FAM160B1_ENST00000369250.3_Nonsense_Mutation_p.E66*	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	66										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ACTGGTTCAAGAAGAAAATGA	0.368																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(196-198)Gaa>Taa		family with sequence similarity 160, member B1							99	97	98					10																	116593063		2203	4300	6503	SO:0001587	stop_gained	57700							g.chr10:116593063G>T	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"KIAA1600"	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.196G>T	10.37:g.116593063G>T	ENSP00000358251:p.Glu66*		Somatic				FAM160B1_ENST00000369250.3_Nonsense_Mutation_p.E66*|FAM160B1_ENST00000369246.1_Nonsense_Mutation_p.E66*	p.E66*	NM_020940.3	NP_065991.3	WXS	Illumina GAIIx	Phase_I	Q5W0V3	F16B1_HUMAN			3	531	+			66					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Nonsense_Mutation	SNP	ENST00000369248.4	37	c.196G>T	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	G	38	6.773367	0.97829	.	.	ENSG00000151553	ENST00000369248;ENST00000369250;ENST00000369246	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.3585	20.3593	0.98849	0.0:0.0:1.0:0.0	.	.	.	.	X	66	.	ENSP00000358249:E66X	E	+	1	0	FAM160B1	116583053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.714000	0.98744	2.822000	0.97130	0.557000	0.71058	GAA		0.368	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		7	79	1	0	0.0293803	1	0.0299069	7	79					T	116593063	G	T	116593063	4	4	48	1	0	0	0	0	0	1	0	0	5475	943	33	2	206	2	FAM160B1	10	116593063	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1063423	116593063	18941684	2573	7041										
GFRA1	2674	broad.mit.edu	37	chr10	117849401	117849401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggctgccacacggtcacatCggagccattgccaaaggctt	11	13	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:117849401C>T	ENST00000355422.6	-	9	1598	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	GFRA1_ENST00000369236.1_Missense_Mutation_p.D345N|GFRA1_ENST00000544592.1_Missense_Mutation_p.D229N|GFRA1_ENST00000439649.3_Missense_Mutation_p.D345N	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	350					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		ACGGTCACATCGGAGCCATTG	0.522																																					Ovarian(128;329 1725 45498 46808 50759)	ENST00000439649.3																			0				endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26						c.(1033-1035)Gat>Aat		GDNF family receptor alpha 1							51	48	49					10																	117849401		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117849401C>T	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.1048G>A	10.37:g.117849401C>T	ENSP00000347591:p.Asp350Asn		Somatic				GFRA1_ENST00000369236.1_Missense_Mutation_p.D345N|GFRA1_ENST00000355422.6_Missense_Mutation_p.D350N|GFRA1_ENST00000544592.1_Missense_Mutation_p.D229N	p.D345N	NM_001145453.1	NP_001138925.1	WXS	Illumina GAIIx	Phase_I	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	8	1400	-		Lung NSC(174;0.21)	350					A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.1033G>A	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917601	0.92249	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.52057	1.34;0.68	6.16	6.16	0.99307	.	0.089250	0.85682	D	0.000000	T	0.69351	0.3101	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.954;0.983	T	0.67329	-0.5698	10	0.52906	T	0.07	-23.6343	19.0404	0.92997	0.0:1.0:0.0:0.0	.	350;345	P56159;P56159-2	GFRA1_HUMAN;.	N	350;345;345;229;345	ENSP00000358239:D345N;ENSP00000442179:D229N	ENSP00000347591:D345N	D	-	1	0	GFRA1	117839391	1.000000	0.71417	0.990000	0.47175	0.870000	0.49936	6.742000	0.74843	2.937000	0.99478	0.650000	0.86243	GAT		0.522	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		7	22	0	0	0	1	0	7	22					T	117849401	C	T	117849401	3	4	48	1	0	0	0	0	1	0	0	0	6355	884	31	1	361	1	GFRA1	10	117849401	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1256338	117849401	17685346	2574	7042										
PNLIP	5406	broad.mit.edu	37	chr10	118307936	118307936	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacaaatagaaaaactcgctTtattattcatggattcatag	5	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:118307936T>G	ENST00000369221.2	+	4	294	c.266T>G	c.(265-267)tTt>tGt	p.F89C	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	89					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	AAAACTCGCTTTATTATTCAT	0.403																																						ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(265-267)tTt>tGt		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)						115	117	116					10																	118307936		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118307936T>G	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.266T>G	10.37:g.118307936T>G	ENSP00000358223:p.Phe89Cys		Somatic				PNLIP_ENST00000470562.1_3'UTR	p.F89C	NM_000936.2	NP_000927.1	WXS	Illumina GAIIx	Phase_I	P16233	LIPP_HUMAN		all cancers(201;0.0131)	4	294	+			89					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.266T>G	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.066660	0.76301	.	.	ENSG00000175535	ENST00000369221	D	0.91792	-2.91	5.39	5.39	0.77823	Lipase, N-terminal (1);	0.074208	0.56097	D	0.000026	D	0.97698	0.9245	H	0.98295	4.195	0.47905	D	0.999541	D	0.89917	1.0	D	0.91635	0.999	D	0.99038	1.0823	10	0.87932	D	0	.	14.5283	0.67905	0.0:0.0:0.0:1.0	.	89	P16233	LIPP_HUMAN	C	89	ENSP00000358223:F89C	ENSP00000358223:F89C	F	+	2	0	PNLIP	118297926	1.000000	0.71417	0.980000	0.43619	0.963000	0.63663	5.968000	0.70413	2.270000	0.75569	0.477000	0.44152	TTT		0.403	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		12	66	0	0	0	1	0	12	66					G	118307936	T	G	118307936	3	3	48	1	0	0	0	0	1	0	0	0	12158	1841	64	4	276	4	PNLIP	10	118307936	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	458535	118307936	17226811	2575	7043										
PNLIPRP1	5407	broad.mit.edu	37	chr10	118355761	118355761	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccccttccaaagttcacctCattggccacagcctgggagc	8	17	2	0	rs35466965		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:118355761C>A	ENST00000528052.1	+	6	572	c.501C>A	c.(499-501)ctC>ctA	p.L167L	PNLIPRP1_ENST00000358834.4_Silent_p.L167L|PNLIPRP1_ENST00000534537.1_Silent_p.L167L			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	167					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)		AAGTTCACCTCATTGGCCACA	0.532																																						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.(499-501)ctC>ctA		pancreatic lipase-related protein 1							155	163	160					10																	118355761		2203	4300	6503	SO:0001819	synonymous_variant	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118355761C>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.501C>A	10.37:g.118355761C>A			Somatic				PNLIPRP1_ENST00000534537.1_Silent_p.L167L|PNLIPRP1_ENST00000358834.4_Silent_p.L167L	p.L167L			WXS	Illumina GAIIx	Phase_I	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	6	572	+			167					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	ENST00000528052.1	37	c.501C>A	CCDS7595.1																																																																																				0.532	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		68	141	1	0	7.97268e-31	1	1.13956e-30	68	141					A	118355761	C	A	118355761	2	1	48	1	0	0	0	0	0	0	0	1	12159	813	29	2		2	PNLIPRP1	10	118355761	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	47825	118355761	17178986	2576	7044										
PNLIPRP1	5407	broad.mit.edu	37	chr10	118359564	118359564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatttgttttcccaggaaccCgggactttgtggcttgcaat	10	9	0	0	rs199754358		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:118359564C>T	ENST00000528052.1	+	9	891	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R274W|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R274W			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	274					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)		CCCAGGAACCCGGGACTTTGT	0.488																																						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.(820-822)Cgg>Tgg		pancreatic lipase-related protein 1							106	112	110					10																	118359564		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118359564C>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.820C>T	10.37:g.118359564C>T	ENSP00000433933:p.Arg274Trp		Somatic				PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R274W|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R274W	p.R274W			WXS	Illumina GAIIx	Phase_I	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	9	891	+			274					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.820C>T	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464481	0.26335	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	D;D;D	0.91124	-2.79;-2.79;-2.79	5.22	1.07	0.20283	Lipase, N-terminal (1);	0.505731	0.18928	N	0.127291	D	0.92512	0.7622	M	0.85777	2.775	0.80722	D	1	D	0.69078	0.997	P	0.54965	0.765	D	0.89512	0.3772	10	0.62326	D	0.03	-2.8247	6.2491	0.20835	0.2608:0.5942:0.0:0.145	.	274	P54315	LIPR1_HUMAN	W	274	ENSP00000351695:R274W;ENSP00000433933:R274W;ENSP00000434159:R274W	ENSP00000351695:R274W	R	+	1	2	PNLIPRP1	118349554	0.999000	0.42202	0.941000	0.38009	0.972000	0.66771	0.950000	0.29122	-0.002000	0.14469	0.655000	0.94253	CGG		0.488	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		26	71	0	0	0	1	0	26	71					T	118359564	C	T	118359564	3	4	48	1	0	0	0	0	1	0	0	0	12159	643	23	1	850	1	PNLIPRP1	10	118359564	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3803	118359564	17175183	2577	7045										
HSPA12A	259217	broad.mit.edu	37	chr10	118434331	118434331	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcccaactttgacactcttCgaagtggctatatcaatggc	7	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:118434331C>T	ENST00000369209.3	-	12	2093	c.1989G>A	c.(1987-1989)tcG>tcA	p.S663S	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	663						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)		TGACACTCTTCGAAGTGGCTA	0.557																																						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.(1987-1989)tcG>tcA		heat shock 70kDa protein 12A							58	64	62					10																	118434331		1959	4139	6098	SO:0001819	synonymous_variant	259217						ATP binding	g.chr10:118434331C>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.1989G>A	10.37:g.118434331C>T			Somatic					p.S663S	NM_025015.2	NP_079291.2	WXS	Illumina GAIIx	Phase_I	O43301	HS12A_HUMAN		all cancers(201;0.0158)	12	2093	-			663						Silent	SNP	ENST00000369209.3	37	c.1989G>A	CCDS41569.1																																																																																				0.557	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		16	31	0	0	0	1	0	16	31					T	118434331	C	T	118434331	2	4	48	1	0	0	0	0	0	0	0	1	7413	871	31	1		1	HSPA12A	10	118434331	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	74767	118434331	17100416	2578	7046										
RAB11FIP2	22841	broad.mit.edu	37	chr10	119798541	119798541	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtaaatggattggttgactCataatcaaaatagtcctggc	9	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:119798541C>A	ENST00000355624.3	-	3	1646	c.1207G>T	c.(1207-1209)Gag>Tag	p.E403*	RAB11FIP2_ENST00000369199.3_Nonsense_Mutation_p.E403*|RP11-354M20.3_ENST00000417968.4_RNA|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	403					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTGGTTGACTCATAATCAAAA	0.368																																						ENST00000355624.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(1207-1209)Gag>Tag		RAB11 family interacting protein 2 (class I)							146	149	148					10																	119798541		2203	4300	6503	SO:0001587	stop_gained	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119798541C>A	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1207G>T	10.37:g.119798541C>A	ENSP00000347839:p.Glu403*		Somatic				RAB11FIP2_ENST00000369199.3_Nonsense_Mutation_p.E403*|RP11-354M20.3_ENST00000451610.2_RNA	p.E403*	NM_014904.2	NP_055719.1	WXS	Illumina GAIIx	Phase_I	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	3	1646	-		Colorectal(252;0.235)	403					A6NEI4|Q3I768|Q9Y2F0	Nonsense_Mutation	SNP	ENST00000355624.3	37	c.1207G>T	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522105	0.85600	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	.	.	.	5.86	5.86	0.93980	.	0.243880	0.47852	D	0.000219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-14.3429	20.5632	0.99335	0.0:1.0:0.0:0.0	.	.	.	.	X	403	.	ENSP00000347839:E403X	E	-	1	0	RAB11FIP2	119788531	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.317000	0.65822	2.937000	0.99478	0.650000	0.86243	GAG		0.368	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		22	42	1	0	3.8784e-16	1	5.13982e-16	22	42					A	119798541	C	A	119798541	4	1	48	1	0	0	0	0	0	1	0	0	12909	835	29	2	343	2	RAB11FIP2	10	119798541	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1364210	119798541	15736206	2579	7047										
C10orf46	143384	broad.mit.edu	37	chr10	120450802	120450802	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaaccattctgtataagttCtctttgaaatttctgatctt	4	7	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:120450802C>A	ENST00000369151.3	-	7	1483	c.1000G>T	c.(1000-1002)Gaa>Taa	p.E334*	CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	334					G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)										TGTATAAGTTCTCTTTGAAAT	0.388																																						ENST00000369151.3																			0											c.(1000-1002)Gaa>Taa		CDK2-associated, cullin domain 1							136	139	138					10																	120450802		1815	4082	5897	SO:0001587	stop_gained	143384							g.chr10:120450802C>A	AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"Cdk-Associated Cullin1"		"chromosome 10 open reading frame 46"	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.1000G>T	10.37:g.120450802C>A	ENSP00000358147:p.Glu334*		Somatic				CACUL1_ENST00000544392.1_5'UTR	p.E334*	NM_153810.4	NP_722517.3	WXS	Illumina GAIIx	Phase_I					7	1483	-								Q5XPL7|Q8IY11|Q8N7S4	Nonsense_Mutation	SNP	ENST00000369151.3	37	c.1000G>T	CCDS41570.1	.	.	.	.	.	.	.	.	.	.	C	44	10.700541	0.99452	.	.	ENSG00000151893	ENST00000544392;ENST00000369156;ENST00000369151	.	.	.	5.97	5.97	0.96955	.	0.049835	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-2.8429	20.4324	0.99085	0.0:1.0:0.0:0.0	.	.	.	.	X	145;211;334	.	ENSP00000358147:E334X	E	-	1	0	C10orf46	120440792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.749000	0.74883	2.833000	0.97629	0.585000	0.79938	GAA		0.388	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050612.2	NM_153810		51	122	1	0	9.22156e-22	1	1.27685e-21	51	122					A	120450802	C	A	120450802	4	1	48	1	0	0	0	0	0	1	0	0	1606	922	32	2	121	2	C10orf46	10	120450802	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	652261	120450802	15083945	2580	7048										
EIF3A	8661	broad.mit.edu	37	chr10	120816463	120816463	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttaccttcttttcttgattCtttaggcgttcttgaagttc	6	8	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:120816463C>T	ENST00000369144.3	-	13	2194	c.2067G>A	c.(2065-2067)aaG>aaA	p.K689K	EIF3A_ENST00000541549.1_Silent_p.K655K	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					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)		TTTCTTGATTCTTTAGGCGTT	0.348																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(2065-2067)aaG>aaA		eukaryotic translation initiation factor 3, subunit A							172	146	155					10																	120816463		2202	4299	6501	SO:0001819	synonymous_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120816463C>T	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.2067G>A	10.37:g.120816463C>T			Somatic				EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Silent_p.K655K	p.K689K	NM_003750.2	NP_003741.1	WXS	Illumina GAIIx	Phase_I	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	13	2194	-		Lung NSC(174;0.094)|all_lung(145;0.123)	689			Glu-rich.|Interaction with EIF3B.		B7ZBG9|Q6IBN8|Q96TD5	Silent	SNP	ENST00000369144.3	37	c.2067G>A	CCDS7608.1																																																																																				0.348	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		11	22	0	0	0	1	0	11	22					T	120816463	C	T	120816463	2	4	48	1	0	0	0	0	0	0	0	1	5014	912	32	3		3	EIF3A	10	120816463	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	365661	120816463	14718284	2581	7049										
FAM45A	404636	broad.mit.edu	37	chr10	120877030	120877030	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttgttgtcctttcttacaGaatgtacctgaaacatggga	8	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:120877030G>A	ENST00000361432.2	+	4	358		c.e4-1		FAM45A_ENST00000535029.1_Splice_Site|FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000489988.1_Splice_Site	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A											breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		CTTTCTTACAGAATGTACCTG	0.443																																						ENST00000361432.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14						c.e4-1		family with sequence similarity 45, member A							119	116	117					10																	120877030		2203	4300	6503	SO:0001630	splice_region_variant	404636							g.chr10:120877030G>A	AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.333-1G>A	10.37:g.120877030G>A			Somatic				FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000489988.1_Splice_Site|FAM45A_ENST00000535029.1_Splice_Site		NM_207009.2	NP_996892.1	WXS	Illumina GAIIx	Phase_I	Q8TCE6	FA45A_HUMAN		all cancers(201;0.0293)	4	358	+		Lung NSC(174;0.094)|all_lung(145;0.123)						B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Splice_Site	SNP	ENST00000361432.2	37		CCDS7609.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650573	0.47362	.	.	ENSG00000119979	ENST00000535029;ENST00000546291;ENST00000361432	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3756	0.90435	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM45A	120867020	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.916000	0.92745	2.780000	0.95670	0.585000	0.79938	.		0.443	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1	NM_207009	Intron	42	71	0	0	0	1	0	42	71					A	120877030	G	A	120877030	5	1	48	1	0	0	0	0	0	0	1	0	5572	956	33	3	346	3	FAM45A	10	120877030	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	60567	120877030	14657717	2582	7050										
SFXN4	119559	broad.mit.edu	37	chr10	120907363	120907363	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattctggatgctagcgtttCtctaacagcctagcaaaaat	7	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:120907363C>A	ENST00000355697.2	-	12	761	c.742G>T	c.(742-744)Gaa>Taa	p.E248*	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Nonsense_Mutation_p.E239*	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	248					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GCTAGCGTTTCTCTAACAGCC	0.488																																						ENST00000355697.2																			0				central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11						c.(742-744)Gaa>Taa		sideroflexin 4							103	103	103					10																	120907363		2203	4300	6503	SO:0001587	stop_gained	119559				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:120907363C>A		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"Sideroflexins"	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.742G>T	10.37:g.120907363C>A	ENSP00000347924:p.Glu248*		Somatic				SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Nonsense_Mutation_p.E239*	p.E248*	NM_213649.1	NP_998814.1	WXS	Illumina GAIIx	Phase_I	Q6P4A7	SFXN4_HUMAN		all cancers(201;0.0261)	12	761	-		Lung NSC(174;0.094)|all_lung(145;0.123)	248					Q6WSU4|Q86TD9	Nonsense_Mutation	SNP	ENST00000355697.2	37	c.742G>T	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694454	0.48202	.	.	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000392875;ENST00000369131	.	.	.	3.74	3.74	0.42951	.	0.139020	0.46442	D	0.000284	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-5.0046	12.7895	0.57526	0.0:1.0:0.0:0.0	.	.	.	.	X	248;239;131;132	.	ENSP00000333200:E239X	E	-	1	0	SFXN4	120897353	0.955000	0.32602	0.117000	0.21633	0.007000	0.05969	3.257000	0.51500	2.120000	0.65058	0.650000	0.86243	GAA		0.488	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		38	45	1	0	3.62531e-18	1	4.89791e-18	38	45					A	120907363	C	A	120907363	4	1	48	1	0	0	0	0	0	1	0	0	14212	922	32	2	283	2	SFXN4	10	120907363	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	30333	120907363	14627384	2583	7051										
C10orf119	79892	broad.mit.edu	37	chr10	121600381	121600381	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacaagatgttgaataattcGatacaagtgttctgtgaagg	10	4	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:121600381G>A	ENST00000360003.3	-	11	1391	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Nonsense_Mutation_p.R406*	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	408					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TGAATAATTCGATACAAGTGT	0.333																																						ENST00000360003.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.(1222-1224)Cga>Tga		minichromosome maintenance complex binding protein							129	129	129					10																	121600381		2203	4300	6503	SO:0001587	stop_gained	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121600381G>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"chromosome 10 open reading frame 119"	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1222C>T	10.37:g.121600381G>A	ENSP00000353098:p.Arg408*		Somatic				MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Nonsense_Mutation_p.R406*	p.R408*	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	WXS	Illumina GAIIx	Phase_I	Q9BTE3	MCMBP_HUMAN			11	1391	-			408					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Nonsense_Mutation	SNP	ENST00000360003.3	37	c.1222C>T	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	G	39	7.367328	0.98238	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.97	5.97	0.96955	.	0.260668	0.39985	N	0.001208	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-25.6699	20.434	0.99088	0.0:0.0:1.0:0.0	.	.	.	.	X	408;406	.	ENSP00000353098:R408X	R	-	1	2	MCMBP	121590371	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.130000	0.77235	2.838000	0.97847	0.561000	0.74099	CGA		0.333	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		14	22	0	0	0	1	0	14	22					A	121600381	G	A	121600381	4	1	48	1	0	0	0	0	0	1	0	0	1590	1066	37	1	730	1	C10orf119	10	121600381	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	693018	121600381	13934366	2584	7052										
DMBT1	1755	broad.mit.edu	37	chr10	124345687	124345687	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtgtgtgatgacagctgggAcaccaatgatgccaatgtgg	14	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:124345687A>C	ENST00000338354.3	+	16	1677	c.1571A>C	c.(1570-1572)gAc>gCc	p.D524A	DMBT1_ENST00000368955.3_Missense_Mutation_p.D514A|DMBT1_ENST00000368909.3_Missense_Mutation_p.D524A|DMBT1_ENST00000344338.3_Missense_Mutation_p.D514A|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000359586.6_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	524	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACAGCTGGGACACCAATGAT	0.612																																					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.(1570-1572)gAc>gCc		deleted in malignant brain tumors 1							297	229	251					10																	124345687		2063	4176	6239	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.chr10:124345687A>C		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.1571A>C	10.37:g.124345687A>C	ENSP00000342210:p.Asp524Ala		Somatic				DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.D524A|DMBT1_ENST00000344338.3_Missense_Mutation_p.D514A|DMBT1_ENST00000368955.3_Missense_Mutation_p.D514A|DMBT1_ENST00000330163.4_Intron	p.D524A			WXS	Illumina GAIIx	Phase_I	Q9UGM3	DMBT1_HUMAN			16	1677	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	524			SRCR 4.		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.1571A>C		.	.	.	.	.	.	.	.	.	.	A	15.27	2.783898	0.49891	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	4.5	3.37	0.38596	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.64649	0.2617	M	0.94142	3.5	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.64506	0.878;0.878;0.926	T	0.72250	-0.4348	9	0.72032	D	0.01	.	9.3625	0.38203	0.9144:0.0:0.0856:0.0	.	524;514;524	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	A	524;524;524;524;524;524;514;524;514	ENSP00000342210:D524A;ENSP00000343175:D514A;ENSP00000357905:D524A;ENSP00000357951:D514A	ENSP00000342210:D524A	D	+	2	0	DMBT1	124335677	0.994000	0.37717	0.984000	0.44739	0.711000	0.40976	3.287000	0.51732	1.680000	0.50976	0.374000	0.22700	GAC		0.612	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		156	558	0	0	0	1	0	156	558					C	124345687	A	C	124345687	3	2	48	1	0	0	0	0	1	0	0	0	4579	275	10	4	1633	4	DMBT1	10	124345687	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2745306	124345687	11189060	2585	7053										
DMBT1	1755	broad.mit.edu	37	chr10	124390744	124390744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggcagtgccggaaccgagGctggttctcccacaactgta	12	13	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:124390744G>A	ENST00000338354.3	+	46	6012	c.5906G>A	c.(5905-5907)gGc>gAc	p.G1969D	DMBT1_ENST00000368955.3_Missense_Mutation_p.G1959D|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1969D|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1959D|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1341D|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1341D|DMBT1_ENST00000359586.6_Missense_Mutation_p.G689D			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1969	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGGAACCGAGGCTGGTTCTCC	0.532																																					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.(5905-5907)gGc>gAc		deleted in malignant brain tumors 1							154	150	151					10																	124390744		2049	4201	6250	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124390744G>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.5906G>A	10.37:g.124390744G>A	ENSP00000342210:p.Gly1969Asp		Somatic				DMBT1_ENST00000368956.2_Missense_Mutation_p.G1341D|DMBT1_ENST00000359586.6_Missense_Mutation_p.G689D|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1969D|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1959D|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1959D|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1341D	p.G1969D			WXS	Illumina GAIIx	Phase_I	Q9UGM3	DMBT1_HUMAN			46	6012	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1969			SRCR 14.		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.5906G>A		.	.	.	.	.	.	.	.	.	.	G	19.34	3.809674	0.70797	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.56	4.65	0.58169	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	D	0.83348	0.5235	M	0.75615	2.305	0.28365	N	0.92029	D;D;D;D;D;P;D	0.89917	0.999;0.966;0.99;1.0;0.998;0.843;0.982	D;P;P;D;P;P;D	0.87578	0.97;0.8;0.686;0.998;0.904;0.839;0.976	T	0.77715	-0.2484	9	0.42905	T	0.14	.	15.113	0.72375	0.0:0.2669:0.733:0.0	.	689;1949;1218;2098;1341;1959;1969	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	D	1969;2098;1969;1969;1969;1969;1341;1959;1341;1341;1969;1959;1341;115;689	ENSP00000342210:G1969D;ENSP00000343175:G1959D;ENSP00000327747:G1341D;ENSP00000357905:G1969D;ENSP00000357951:G1959D;ENSP00000357952:G1341D;ENSP00000352593:G689D	ENSP00000331522:G1341D	G	+	2	0	DMBT1	124380734	0.000000	0.05858	0.959000	0.39883	0.939000	0.58152	0.620000	0.24403	1.326000	0.45319	0.650000	0.86243	GGC		0.532	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		52	97	0	0	0	1	0	52	97					A	124390744	G	A	124390744	3	1	48	1	0	0	0	0	1	0	0	0	4579	1203	42	3	6088	3	DMBT1	10	124390744	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	45057	124390744	11144003	2586	7054										
CUZD1	50624	broad.mit.edu	37	chr10	124594383	124594383	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatggtgattcaagtatagtCttttcaaatgaattggattc	8	4	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:124594383C>A	ENST00000368904.1	-	9	2170	c.1221G>T	c.(1219-1221)aaG>aaT	p.K407N	CUZD1_ENST00000545804.1_Missense_Mutation_p.K407N|CUZD1_ENST00000392790.1_Missense_Mutation_p.K407N					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CAAGTATAGTCTTTTCAAATG	0.333																																						ENST00000368904.1																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39						c.(1219-1221)aaG>aaT		CUB and zona pellucida-like domains 1							99	89	92					10																	124594383		2203	4300	6503	SO:0001583	missense	50624				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		g.chr10:124594383C>A	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1221G>T	10.37:g.124594383C>A	ENSP00000357900:p.Lys407Asn		Somatic				CUZD1_ENST00000545804.1_Missense_Mutation_p.K407N|CUZD1_ENST00000392790.1_Missense_Mutation_p.K407N	p.K407N			WXS	Illumina GAIIx	Phase_I	Q86UP6	CUZD1_HUMAN		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)	9	2170	-		all_neural(114;0.169)|Glioma(114;0.222)	407			ZP.			Missense_Mutation	SNP	ENST00000368904.1	37	c.1221G>T	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	C	4.087	0.014073	0.07959	.	.	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	D;D;D	0.82526	-1.62;-1.62;-1.62	5.03	-2.91	0.05631	Zona pellucida sperm-binding protein (3);	0.752615	0.12799	N	0.438154	T	0.53286	0.1787	N	0.04787	-0.16	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44452	-0.9327	10	0.12430	T	0.62	-8.395	0.2104	0.00155	0.3256:0.1421:0.2145:0.3178	.	407	Q86UP6	CUZD1_HUMAN	N	407;126;126;41;126;407;407	ENSP00000357900:K407N;ENSP00000441590:K407N;ENSP00000376540:K407N	ENSP00000340905:K41N	K	-	3	2	CUZD1	124584373	0.000000	0.05858	0.004000	0.12327	0.512000	0.34134	-1.164000	0.03135	-0.333000	0.08476	0.460000	0.39030	AAG		0.333	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		8	25	1	0	1.06961e-07	1	1.24214e-07	8	25					A	124594383	C	A	124594383	3	1	48	1	0	0	0	0	1	0	0	0	4068	912	32	2	614	2	CUZD1	10	124594383	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	203639	124594383	10940364	2587	7055										
CTBP2	1488	broad.mit.edu	37	chr10	126678217	126678217	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctccagggatgatcccttccAtggctgcaggaagtcctcct	10	14	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:126678217A>G	ENST00000337195.5	-	11	1607	c.1208T>C	c.(1207-1209)aTg>aCg	p.M403T	CTBP2_ENST00000494626.2_Missense_Mutation_p.M403T|CTBP2_ENST00000309035.6_Missense_Mutation_p.M943T|CTBP2_ENST00000411419.2_Missense_Mutation_p.M403T|CTBP2_ENST00000334808.6_Missense_Mutation_p.M471T|CTBP2_ENST00000531469.1_Missense_Mutation_p.M403T	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	403					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)		GATCCCTTCCATGGCTGCAGG	0.577																																						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.(2827-2829)aTg>aCg		C-terminal binding protein 2							49	47	48					10																	126678217		2203	4300	6503	SO:0001583	missense	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.chr10:126678217A>G	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.1208T>C	10.37:g.126678217A>G	ENSP00000338615:p.Met403Thr		Somatic				CTBP2_ENST00000411419.2_Missense_Mutation_p.M403T|CTBP2_ENST00000531469.1_Missense_Mutation_p.M403T|CTBP2_ENST00000337195.5_Missense_Mutation_p.M403T|CTBP2_ENST00000494626.2_Missense_Mutation_p.M403T|CTBP2_ENST00000334808.6_Missense_Mutation_p.M471T	p.M943T	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)	9	2958	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	403					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.2828T>C	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.730589	0.30684	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D;D;D	0.82619	-1.55;-1.6;-1.63;-1.55;-1.55;-1.55	5.12	5.12	0.69794	.	0.192375	0.52532	D	0.000071	T	0.72835	0.3510	N	0.14661	0.345	0.48762	D	0.999708	B;B;B	0.21688	0.0;0.059;0.001	B;B;B	0.25884	0.001;0.064;0.002	T	0.71368	-0.4614	10	0.62326	D	0.03	.	15.0938	0.72217	1.0:0.0:0.0:0.0	.	403;943;471	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	T	403;943;471;403;403;403	ENSP00000338615:M403T;ENSP00000311825:M943T;ENSP00000357816:M471T;ENSP00000434630:M403T;ENSP00000436285:M403T;ENSP00000410474:M403T	ENSP00000311825:M943T	M	-	2	0	CTBP2	126668207	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.651000	0.91078	2.153000	0.67306	0.528000	0.53228	ATG		0.577	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		10	44	0	0	0	1	0	10	44					G	126678217	A	G	126678217	3	3	48	1	0	0	0	0	1	0	0	0	4000	217	8	4	133	4	CTBP2	10	126678217	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2083834	126678217	8856530	2588	7056										
CTBP2	1488	broad.mit.edu	37	chr10	126682453	126682453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgactcatgcacgtcgagGgctgcccctcgtatcctgcc	10	16	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:126682453G>A	ENST00000337195.5	-	8	1281	c.882C>T	c.(880-882)gcC>gcT	p.A294A	CTBP2_ENST00000494626.2_Silent_p.A294A|CTBP2_ENST00000309035.6_Silent_p.A834A|CTBP2_ENST00000411419.2_Silent_p.A294A|CTBP2_ENST00000334808.6_Silent_p.A362A|CTBP2_ENST00000531469.1_Silent_p.A294A	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	294					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)		GCACGTCGAGGGCTGCCCCTC	0.637																																						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.(2500-2502)gcC>gcT		C-terminal binding protein 2							95	99	97					10																	126682453		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682453G>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.882C>T	10.37:g.126682453G>A			Somatic				CTBP2_ENST00000411419.2_Silent_p.A294A|CTBP2_ENST00000531469.1_Silent_p.A294A|CTBP2_ENST00000337195.5_Silent_p.A294A|CTBP2_ENST00000494626.2_Silent_p.A294A|CTBP2_ENST00000334808.6_Silent_p.A362A	p.A834A	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)	6	2632	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	294					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2502C>T	CCDS7643.1																																																																																				0.637	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		47	119	0	0	0	1	0	47	119					A	126682453	G	A	126682453	2	1	48	1	0	0	0	0	0	0	0	1	4000	1219	43	3		3	CTBP2	10	126682453	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4236	126682453	8852294	2589	7057										
C10orf137	26098	broad.mit.edu	37	chr10	127418874	127418874	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagggataacaacaaaccaaTtaatgtgctaactggaattg	8	6	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:127418874T>G	ENST00000356792.4	+	9	1266	c.1034T>G	c.(1033-1035)aTt>aGt	p.I345S	C10orf137_ENST00000337623.3_Missense_Mutation_p.I311S	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		345					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)				AACAAACCAATTAATGTGCTA	0.308																																						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.(931-933)aTt>aGt		chromosome 10 open reading frame 137							210	199	203					10																	127418874		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127418874T>G																												ENST00000356792.4:c.1034T>G	10.37:g.127418874T>G	ENSP00000349244:p.Ile345Ser		Somatic				C10orf137_ENST00000356792.4_Missense_Mutation_p.I345S	p.I311S	NM_015608.2	NP_056423.2	WXS	Illumina GAIIx	Phase_I	Q3B7T1	EDRF1_HUMAN			8	1037	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	345					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.932T>G	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.343886	0.82022	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	T;T	0.12774	2.65;2.65	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.994;0.996	T	0.33445	-0.9868	10	0.87932	D	0	.	15.6709	0.77274	0.0:0.0:0.0:1.0	.	345;311;345	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	S	345;345;311	ENSP00000349244:I345S;ENSP00000336727:I311S	ENSP00000336727:I311S	I	+	2	0	C10orf137	127408864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.099000	0.63709	0.482000	0.46254	ATT		0.308	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			15	53	0	0	0	1	0	15	53					G	127418874	T	G	127418874	3	3	48	1	0	0	0	0	1	0	0	0	1596	1493	52	4	962	4	C10orf137	10	127418874	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	736421	127418874	8115873	2590	7058										
BCCIP	56647	broad.mit.edu	37	chr10	127519170	127519170	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acagcaatgatgatatggatGaagatgaggtttttggtttc	12	3	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:127519170G>T	ENST00000278100.6	+	4	373	c.361G>T	c.(361-363)Gaa>Taa	p.E121*	BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000299130.3_Nonsense_Mutation_p.E121*|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000368759.5_Nonsense_Mutation_p.E121*	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	121	Interaction with BRCA2.				cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGATATGGATGAAGATGAGGT	0.303																																						ENST00000299130.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8						c.(361-363)Gaa>Taa		BRCA2 and CDKN1A interacting protein							177	177	177					10																	127519170		2203	4300	6503	SO:0001587	stop_gained	56647				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	g.chr10:127519170G>T	AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"BRCA2 and CDKN1A-interacting protein"			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.361G>T	10.37:g.127519170G>T	ENSP00000278100:p.Glu121*		Somatic				BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000368759.5_Nonsense_Mutation_p.E121*|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000278100.6_Nonsense_Mutation_p.E121*	p.E121*	NM_078469.2	NP_510869.1	WXS	Illumina GAIIx	Phase_I	Q9P287	BCCIP_HUMAN			4	373	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	121			Interaction with BRCA2.		B3KP45|Q8ND15|Q96GC4|Q9P288	Nonsense_Mutation	SNP	ENST00000278100.6	37	c.361G>T	CCDS7651.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005405	0.74932	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000392718	.	.	.	5.36	3.39	0.38822	.	0.243494	0.44097	D	0.000487	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-16.6406	9.147	0.36939	0.0769:0.0:0.7765:0.1466	.	.	.	.	X	121	.	ENSP00000278100:E121X	E	+	1	0	BCCIP	127509160	1.000000	0.71417	0.999000	0.59377	0.857000	0.48899	5.421000	0.66447	1.279000	0.44446	0.585000	0.79938	GAA		0.303	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1			4	96	1	0	1	1	1	4	96					T	127519170	G	T	127519170	4	4	48	1	0	0	0	0	0	1	0	0	1356	1291	45	2	375	2	BCCIP	10	127519170	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	100296	127519170	8015577	2591	7059										
FANK1	92565	broad.mit.edu	37	chr10	127668792	127668792	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagtgactcatcacagcattGaattatactgggatctggaa	9	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:127668792G>T	ENST00000368693.1	+	2	180	c.76G>T	c.(76-78)Gaa>Taa	p.E26*	FANK1_ENST00000368689.1_Nonsense_Mutation_p.E20*|FANK1_ENST00000449042.2_Nonsense_Mutation_p.E20*|FANK1_ENST00000368695.1_Nonsense_Mutation_p.E20*			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	26	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)				TCACAGCATTGAATTATACTG	0.453																																						ENST00000368695.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21						c.(58-60)Gaa>Taa		fibronectin type III and ankyrin repeat domains 1							108	101	104					10																	127668792		2203	4300	6503	SO:0001587	stop_gained	92565					cytoplasm|nucleus		g.chr10:127668792G>T	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.76G>T	10.37:g.127668792G>T	ENSP00000357682:p.Glu26*		Somatic				FANK1_ENST00000449042.2_Nonsense_Mutation_p.E20*|FANK1_ENST00000368689.1_Nonsense_Mutation_p.E20*|FANK1_ENST00000368693.1_Nonsense_Mutation_p.E26*	p.E20*	NM_145235.3	NP_660278.3	WXS	Illumina GAIIx	Phase_I	Q8TC84	FANK1_HUMAN			2	180	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	26			Fibronectin type-III.		Q6UXY9|Q6X7T6	Nonsense_Mutation	SNP	ENST00000368693.1	37	c.58G>T	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236895	0.79800	.	.	ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000449042;ENST00000417114;ENST00000445510;ENST00000368691;ENST00000368689;ENST00000368692	.	.	.	4.9	3.99	0.46301	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-35.8904	7.9956	0.30267	0.09:0.1643:0.7457:0.0	.	.	.	.	X	20;26;20;20;20;20;20;26	.	ENSP00000357678:E20X	E	+	1	0	FANK1	127658782	0.998000	0.40836	0.368000	0.25939	0.793000	0.44817	3.053000	0.49901	2.255000	0.74692	0.563000	0.77884	GAA		0.453	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		19	41	1	0	3.99206e-14	1	5.17458e-14	19	41					T	127668792	G	T	127668792	4	4	48	1	0	0	0	0	0	1	0	0	5680	1291	45	2	82	2	FANK1	10	127668792	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	149622	127668792	7865955	2592	7060										
C10orf90	118611	broad.mit.edu	37	chr10	128193194	128193194	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaactctgtgcaggcaaaaGatctctgatgccgacctgga	11	10	2	3	rs533281841		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:128193194G>T	ENST00000284694.7	-	3	695	c.575C>A	c.(574-576)tCt>tAt	p.S192Y	C10orf90_ENST00000544758.1_Missense_Mutation_p.S289Y|C10orf90_ENST00000392694.1_Missense_Mutation_p.S145Y|C10orf90_ENST00000454341.1_Missense_Mutation_p.S192Y|C10orf90_ENST00000356858.3_Missense_Mutation_p.S145Y|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	192	Required for interaction with HDAC1. {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)		GCAGGCAAAAGATCTCTGATG	0.622											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	8e-04	0	5008	,	,		15484	0		0	False		,,,				2504	0					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.(574-576)tCt>tAt		chromosome 10 open reading frame 90							61	67	65					10																	128193194		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128193194G>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.575C>A	10.37:g.128193194G>T	ENSP00000284694:p.Ser192Tyr		Somatic	OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_ENST00000544758.1_Missense_Mutation_p.S289Y|C10orf90_ENST00000454341.1_Missense_Mutation_p.S192Y|C10orf90_ENST00000392694.1_Missense_Mutation_p.S145Y|C10orf90_ENST00000356858.3_Missense_Mutation_p.S145Y|C10orf90_ENST00000368674.1_5'UTR	p.S192Y	NM_001004298.2	NP_001004298.2	WXS	Illumina GAIIx	Phase_I	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	695	-		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)	192					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.575C>A	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302302	0.40694	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.23950	2.2;2.2;2.2;2.2;1.88	4.74	3.76	0.43208	.	0.682526	0.13548	N	0.379659	T	0.13970	0.0338	N	0.08118	0	0.09310	N	1	P;P;P;P;P	0.51351	0.683;0.846;0.944;0.846;0.785	B;B;B;B;B	0.41036	0.243;0.243;0.346;0.243;0.346	T	0.06445	-1.0826	10	0.87932	D	0	-2.5685	10.3003	0.43648	0.1039:0.0:0.8961:0.0	.	289;289;145;192;192	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	Y	145;192;192;289;192;145;145	ENSP00000284694:S192Y;ENSP00000398786:S192Y;ENSP00000444369:S289Y;ENSP00000405995:S192Y;ENSP00000376459:S145Y	ENSP00000284694:S192Y	S	-	2	0	C10orf90	128183184	0.064000	0.20934	0.005000	0.12908	0.099000	0.18886	2.827000	0.48112	2.462000	0.83206	0.467000	0.42956	TCT		0.622	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		29	76	1	0	1.04121e-07	1	1.21041e-07	29	76					T	128193194	G	T	128193194	3	4	48	1	0	0	0	0	1	0	0	0	1625	942	33	2	1552	2	C10orf90	10	128193194	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	524402	128193194	7341553	2593	7061										
DOCK1	1793	broad.mit.edu	37	chr10	128795081	128795081	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatccagaattaactagcacGattagtctcttcagagctca	7	10	3	2	rs79043452	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:128795081G>A	ENST00000280333.6	+	7	652	c.543G>A	c.(541-543)acG>acA	p.T181T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	181					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)		TAACTAGCACGATTAGTCTCT	0.368													G|||	19	0.00379393	0.0144	0	5008	,	,		20216	0		0	False		,,,				2504	0					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.(541-543)acG>acA		dedicator of cytokinesis 1		G		40,3640		0,40,1800	214	203	206		498	-10.2	0	10	dbSNP_133	206	1,8191		0,1,4095	no	coding-synonymous	DOCK1	NM_001380.3		0,41,5895	AA,AG,GG		0.0122,1.087,0.3454		166/1851	128795081	41,11831	1840	4096	5936	SO:0001819	synonymous_variant	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128795081G>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.543G>A	10.37:g.128795081G>A			Somatic					p.T181T	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)	7	652	+		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)	181					A9Z1Z5	Silent	SNP	ENST00000280333.6	37	c.543G>A																																																																																					0.368	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		13	115	0	0	0	1	0	13	115					A	128795081	G	A	128795081	2	1	48	1	0	0	0	0	0	0	0	1	4686	1045	37	1		1	DOCK1	10	128795081	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	601887	128795081	6739666	2594	7062										
DOCK1	1793	broad.mit.edu	37	chr10	128821490	128821490	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcgaaatgatatctatgtaAcattagttcaaggagatttt	7	4	2	2	rs529958746		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:128821490A>C	ENST00000280333.6	+	14	1400	c.1291A>C	c.(1291-1293)Aca>Cca	p.T431P	RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000608350.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000432554.2_RNA|RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	431	DHR-1.				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)		TATCTATGTAACATTAGTTCA	0.378																																						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.(1291-1293)Aca>Cca		dedicator of cytokinesis 1							192	190	190					10																	128821490		1921	4145	6066	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128821490A>C	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.1291A>C	10.37:g.128821490A>C	ENSP00000280333:p.Thr431Pro		Somatic				RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA	p.T431P	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)	14	1400	+		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)	431			DHR-1.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.1291A>C		.	.	.	.	.	.	.	.	.	.	A	23.9	4.470954	0.84533	.	.	ENSG00000150760	ENST00000280333	T	0.15952	2.38	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.52517	0.1739	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66508	-0.5906	10	0.87932	D	0	.	14.8236	0.70091	1.0:0.0:0.0:0.0	.	431;431	B2RUU3;Q14185	.;DOCK1_HUMAN	P	431	ENSP00000280333:T431P	ENSP00000280333:T431P	T	+	1	0	DOCK1	128711480	1.000000	0.71417	0.515000	0.27774	0.972000	0.66771	9.062000	0.93920	2.081000	0.62600	0.533000	0.62120	ACA		0.378	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		57	82	0	0	0	1	0	57	82					C	128821490	A	C	128821490	3	2	48	1	0	0	0	0	1	0	0	0	4686	43	2	4	1345	4	DOCK1	10	128821490	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	26409	128821490	6713257	2595	7063										
MKI67	4288	broad.mit.edu	37	chr10	129901190	129901190	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctggtgcttaccacgtctcCcacgggttctactttagggg	11	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:129901190C>T	ENST00000368654.3	-	13	9289	c.8914G>A	c.(8914-8916)Gga>Aga	p.G2972R	MKI67_ENST00000368653.3_Missense_Mutation_p.G2612R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2972					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)				ACCACGTCTCCCACGGGTTCT	0.498																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(8914-8916)Gga>Aga		marker of proliferation Ki-67							92	90	91					10																	129901190		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129901190C>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.8914G>A	10.37:g.129901190C>T	ENSP00000357643:p.Gly2972Arg		Somatic				MKI67_ENST00000368653.3_Missense_Mutation_p.G2612R	p.G2972R	NM_002417.4	NP_002408.3	WXS	Illumina GAIIx	Phase_I	P46013	KI67_HUMAN			13	9289	-		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)	2972					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.8914G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608403	0.46527	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01335	5.05;5.0	3.78	3.78	0.43462	.	0.883596	0.09466	N	0.798330	T	0.01592	0.0051	N	0.19112	0.55	0.09310	N	1	B;P;P	0.50617	0.062;0.899;0.937	B;P;B	0.44990	0.047;0.466;0.288	T	0.54899	-0.8224	10	0.17832	T	0.49	.	11.3131	0.49375	0.0:1.0:0.0:0.0	.	2971;2612;2972	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	R	2972;2612;2971	ENSP00000357643:G2972R;ENSP00000357642:G2612R	ENSP00000357642:G2612R	G	-	1	0	MKI67	129791180	0.003000	0.15002	0.025000	0.17156	0.001000	0.01503	1.788000	0.38714	2.123000	0.65237	0.561000	0.74099	GGA		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		35	85	0	0	0	1	0	35	85					T	129901190	C	T	129901190	3	4	48	1	0	0	0	0	1	0	0	0	9607	632	22	3	868	3	MKI67	10	129901190	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1079700	129901190	5633557	2596	7064										
MKI67	4288	broad.mit.edu	37	chr10	129906274	129906274	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctaagagttctccctctacaTctgctttcctgatacttctc	4	14	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:129906274T>C	ENST00000368654.3	-	13	4205	c.3830A>G	c.(3829-3831)gAt>gGt	p.D1277G	MKI67_ENST00000368653.3_Missense_Mutation_p.D917G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1277	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)				TCCCTCTACATCTGCTTTCCT	0.488																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3829-3831)gAt>gGt		marker of proliferation Ki-67							237	227	230					10																	129906274		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906274T>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.3830A>G	10.37:g.129906274T>C	ENSP00000357643:p.Asp1277Gly		Somatic				MKI67_ENST00000368653.3_Missense_Mutation_p.D917G	p.D1277G	NM_002417.4	NP_002408.3	WXS	Illumina GAIIx	Phase_I	P46013	KI67_HUMAN			13	4205	-		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)	1277			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3830A>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.679709	0.29783	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02974	4.09;4.09	2.46	1.24	0.21308	.	0.471419	0.15816	N	0.243223	T	0.06645	0.0170	L	0.42245	1.32	0.09310	N	1	P;P;D	0.89917	0.939;0.939;1.0	P;P;D	0.91635	0.479;0.479;0.999	T	0.35525	-0.9785	10	0.30854	T	0.27	.	3.5905	0.07986	0.1904:0.0:0.3364:0.4732	.	1276;917;1277	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	G	1277;917;1276	ENSP00000357643:D1277G;ENSP00000357642:D917G	ENSP00000357642:D917G	D	-	2	0	MKI67	129796264	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.561000	0.23515	0.332000	0.23536	0.379000	0.24179	GAT		0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		61	139	0	0	0	1	0	61	139					C	129906274	T	C	129906274	3	2	48	1	0	0	0	0	1	0	0	0	9607	1435	50	4	5952	4	MKI67	10	129906274	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	5084	129906274	5628473	2597	7065										
BNIP3	664	broad.mit.edu	37	chr10	133784368	133784368	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacactgagaacacactcacTtggggggaatattttccggc	11	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:133784368T>G	ENST00000368636.4	-	4	513	c.389A>C	c.(388-390)aAg>aCg	p.K130T	BNIP3_ENST00000540159.1_Splice_Site_p.K130T	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	130					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACACACTCACTTGGGGGGAAT	0.473																																						ENST00000540159.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7						c.e4+1		BCL2/adenovirus E1B 19kDa interacting protein 3							104	103	103					10																	133784368		2203	4300	6503	SO:0001630	splice_region_variant	664				cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity	g.chr10:133784368T>G	U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"BCL2/adenovirus E1B 19kD-interacting protein 3"			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.389+1A>C	10.37:g.133784368T>G			Somatic				BNIP3_ENST00000368636.4_Splice_Site_p.K130_splice	p.K130_splice			WXS	Illumina GAIIx	Phase_I	Q12983	BNIP3_HUMAN		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	4	505	-		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)	130					O14620|Q96GP0	Splice_Site	SNP	ENST00000368636.4	37	c.389_splice	CCDS7663.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.962469	0.74016	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	3.66	3.66	0.41972	.	0.091679	0.85682	D	0.000000	T	0.76263	0.3963	M	0.78049	2.395	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.78811	-0.2057	8	.	.	.	-9.6007	13.3593	0.60646	0.0:0.0:0.0:1.0	.	130	Q12983	BNIP3_HUMAN	T	130	.	.	K	-	2	0	BNIP3	133634358	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.760000	0.74939	1.906000	0.55180	0.460000	0.39030	AAG		0.473	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051039.1		Missense_Mutation	4	61	0	0	0	1	0	4	61					G	133784368	T	G	133784368	5	3	48	1	0	0	0	0	0	0	1	0	1478	1623	56	4	207	4	BNIP3	10	133784368	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	3878094	133784368	1750379	2598	7066										
INPP5A	3632	broad.mit.edu	37	chr10	134563304	134563304	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagttagaaaagaaactcttCgactacttcaaccaggaggt	8	9	2	2	rs149439109		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:134563304C>T	ENST00000368594.3	+	11	1135	c.858C>T	c.(856-858)ttC>ttT	p.F286F	INPP5A_ENST00000368593.3_Silent_p.F286F	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	286					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AGAAACTCTTCGACTACTTCA	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		18531	0		0	False		,,,				2504	0				Pancreas(63;823 1267 11107 20380 51626)	ENST00000368594.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(856-858)ttC>ttT		inositol polyphosphate-5-phosphatase, 40kDa		C		2,4404	4.2+/-10.8	0,2,2201	128	120	123		858	-6.1	0.6	10	dbSNP_134	123	0,8600		0,0,4300	no	coding-synonymous	INPP5A	NM_005539.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		286/413	134563304	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134563304C>T	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"CTCL tumor antigen HD-CL-02", "43 kDa inositol polyphosphate 5-phophatase", "inositol polyphosphate 5-phophatase, 40kDa", "InsP3 5-phosphatase", "type I inositol-1,4,5-trisphosphate 5-phosphatase"	600106	"inositol polyphosphate-5-phosphatase, 40kD"			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.858C>T	10.37:g.134563304C>T			Somatic				INPP5A_ENST00000368593.3_Silent_p.F286F	p.F286F	NM_005539.3	NP_005530.3	WXS	Illumina GAIIx	Phase_I	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	11	1135	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	286					D3DXI3|Q14640|Q5JSF1	Silent	SNP	ENST00000368594.3	37	c.858C>T	CCDS7669.2																																																																																				0.582	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		5	153	0	0	0	1	0	5	153					T	134563304	C	T	134563304	2	4	48	1	0	0	0	0	0	0	0	1	7763	883	31	1		1	INPP5A	10	134563304	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	778936	134563304	971443	2599	7067										
VENTX	27287	broad.mit.edu	37	chr10	135053551	135053551	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccagctttctactcaacgtCttctggccttgccaatggcc	7	16	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:135053551C>A	ENST00000325980.9	+	3	1029	c.518C>A	c.(517-519)tCt>tAt	p.S173Y		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	173					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		TACTCAACGTCTTCTGGCCTT	0.637																																						ENST00000325980.9																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14						c.(517-519)tCt>tAt		VENT homeobox							45	48	47					10																	135053551		2203	4300	6503	SO:0001583	missense	27287				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135053551C>A	AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"Homeoboxes / ANTP class : NKL subclass"	13639	protein-coding gene	gene with protein product		607158	"VENT-like homeobox 2", "VENT homeobox homolog (Xenopus laevis)"	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.518C>A	10.37:g.135053551C>A	ENSP00000357556:p.Ser173Tyr		Somatic					p.S173Y	NM_014468.2	NP_055283.1	WXS	Illumina GAIIx	Phase_I	O95231	VENTX_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)	3	1029	+		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	173					Q32MZ3	Missense_Mutation	SNP	ENST00000325980.9	37	c.518C>A	CCDS7675.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795183	0.31777	.	.	ENSG00000151650	ENST00000325980	D	0.91740	-2.9	2.23	2.23	0.28157	.	3.055110	0.01238	U	0.008529	D	0.87386	0.6164	N	0.14661	0.345	0.09310	N	1	D	0.56968	0.978	P	0.49140	0.601	T	0.80367	-0.1412	10	0.12430	T	0.62	.	7.9136	0.29806	0.0:1.0:0.0:0.0	.	173	O95231	VENTX_HUMAN	Y	173	ENSP00000357556:S173Y	ENSP00000357556:S173Y	S	+	2	0	VENTX	134903541	0.004000	0.15560	0.002000	0.10522	0.014000	0.08584	0.859000	0.27858	1.258000	0.44101	0.385000	0.25706	TCT		0.637	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		24	48	1	0	2.21704e-12	1	2.79328e-12	24	48					A	135053551	C	A	135053551	3	1	48	1	0	0	0	0	1	0	0	0	17168	913	32	2	528	2	VENTX	10	135053551	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	490247	135053551	481196	2600	7068										
ZNF511	118472	broad.mit.edu	37	chr10	135125331	135125331	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaccggcaggtgagaggcgGatctacagacataggtcagt	15	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:135125331G>A	ENST00000359035.3	+	5	669	c.666G>A	c.(664-666)cgG>cgA	p.R222R	ZNF511_ENST00000361518.5_Silent_p.R222R|ZNF511_ENST00000368554.4_Silent_p.R157R|ZNF511_ENST00000463816.2_3'UTR|TUBGCP2_ENST00000417178.2_5'Flank|TUBGCP2_ENST00000470829.1_5'Flank|TUBGCP2_ENST00000368563.2_5'Flank			Q8NB15	ZN511_HUMAN	zinc finger protein 511	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)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GTGAGAGGCGGATCTACAGAC	0.597																																						ENST00000359035.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(664-666)cgG>cgA		zinc finger protein 511							74	77	76					10																	135125331		2203	4300	6503	SO:0001819	synonymous_variant	118472				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:135125331G>A	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"Zinc fingers, C2H2-type"	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.666G>A	10.37:g.135125331G>A			Somatic				ZNF511_ENST00000361518.5_Silent_p.R222R|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Silent_p.R157R	p.R222R			WXS	Illumina GAIIx	Phase_I	Q8NB15	ZN511_HUMAN		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)	5	669	+		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	222					A8K8L5|Q8WUP1|Q96BV2	Silent	SNP	ENST00000359035.3	37	c.666G>A																																																																																					0.597	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806		32	84	0	0	0	1	0	32	84					A	135125331	G	A	135125331	2	1	48	1	0	0	0	0	0	0	0	1	17970	1161	41	3		3	ZNF511	10	135125331	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	71780	135125331	409416	2601	7069										
MTG1	92170	broad.mit.edu	37	chr10	135215056	135215056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagccaccagggtgggtggcGagcctgggatcaccagagct	16	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:135215056G>A	ENST00000317502.6	+	7	585	c.535G>A	c.(535-537)Gag>Aag	p.E179K	MTG1_ENST00000477902.2_Missense_Mutation_p.E138K|RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.E184K	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	179	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)		GGTGGGTGGCGAGCCTGGGAT	0.542																																						ENST00000468317.2																			0											c.(550-552)Gag>Aag									61	62	62					10																	135215056		2203	4300	6503	SO:0001583	missense	0							g.chr10:135215056G>A		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.535G>A	10.37:g.135215056G>A	ENSP00000323047:p.Glu179Lys		Somatic				MTG1_ENST00000317502.6_Missense_Mutation_p.E179K|MTG1_ENST00000477902.2_Missense_Mutation_p.E138K	p.E184K			WXS	Illumina GAIIx	Phase_I					8	805	+								Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	c.550G>A	CCDS31320.1	.	.	.	.	.	.	.	.	.	.	g	10.40	1.339615	0.24339	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000537620	T;T	0.12984	2.63;2.63	5.44	4.54	0.55810	GTP-binding domain, HSR1-related (1);	0.273852	0.33327	U	0.005040	T	0.07458	0.0188	N	0.11651	0.15	0.80722	D	1	B	0.31040	0.305	B	0.29598	0.104	T	0.36456	-0.9747	10	0.17369	T	0.5	-3.0641	12.9277	0.58270	0.0:0.2829:0.7171:0.0	.	179	Q9BT17	MTG1_HUMAN	K	184;179;138	ENSP00000436767:E184K;ENSP00000323047:E179K	ENSP00000323047:E179K	E	+	1	0	AL360181.1;MTG1	135065046	0.991000	0.36638	0.986000	0.45419	0.242000	0.25591	2.145000	0.42207	1.280000	0.44463	0.446000	0.29264	GAG		0.542	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		17	34	0	0	0	1	0	17	34					A	135215056	G	A	135215056	3	1	48	1	0	0	0	0	1	0	0	0	9935	1059	37	1	561	1	MTG1	10	135215056	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	89725	135215056	319691	2602	7070										
RIC8A	60626	broad.mit.edu	37	chr11	209947	209947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgagcgggccatggagatcCtcaaagtgctcttcaacatc	10	12	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:209947C>A	ENST00000526104.1	+	3	2017	c.673C>A	c.(673-675)Ctc>Atc	p.L225I	BET1L_ENST00000410108.1_5'Flank|BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000529614.2_5'Flank|RIC8A_ENST00000527696.1_Missense_Mutation_p.L219I|BET1L_ENST00000486280.1_5'Flank|RIC8A_ENST00000325207.5_Missense_Mutation_p.L225I			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	225					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CATGGAGATCCTCAAAGTGCT	0.582																																						ENST00000526104.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13						c.(673-675)Ctc>Atc		RIC8 guanine nucleotide exchange factor A							49	47	48					11																	209947		2203	4300	6503	SO:0001583	missense	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:209947C>A	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.673C>A	11.37:g.209947C>A	ENSP00000432008:p.Leu225Ile		Somatic				RIC8A_ENST00000325207.5_Missense_Mutation_p.L225I|RIC8A_ENST00000527696.1_Missense_Mutation_p.L219I	p.L225I			WXS	Illumina GAIIx	Phase_I	Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	3	2017	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	225					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	ENST00000526104.1	37	c.673C>A		.	.	.	.	.	.	.	.	.	.	C	32	5.136229	0.94517	.	.	ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000527696	T;T;T	0.52754	0.65;0.65;0.65	4.28	4.28	0.50868	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.73513	0.3596	M	0.88570	2.965	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	0.80562	-0.1327	10	0.87932	D	0	-27.1653	16.5758	0.84637	0.0:1.0:0.0:0.0	.	219;225;225	Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3	.;RIC8A_HUMAN;.	I	225;225;219	ENSP00000432008:L225I;ENSP00000325941:L225I;ENSP00000434833:L219I	ENSP00000325941:L225I	L	+	1	0	RIC8A	199947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.401000	0.79962	2.313000	0.78055	0.561000	0.74099	CTC		0.582	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		6	55	1	0	2.7689e-08	1	3.25926e-08	6	55					A	209947	C	A	209947	3	1	48	1	0	0	0	0	1	0	0	0	13370	681	24	5	683	5	RIC8A	11	209947	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08		209947	134796569	2603	7071										
DEAF1	10522	broad.mit.edu	37	chr11	691572	691572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attgtctgcagcagcccccaCgttggccactgtcactgtgg	11	14	2	0	rs143376874		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:691572C>T	ENST00000382409.3	-	2	800	c.316G>A	c.(316-318)Gtg>Atg	p.V106M	DEAF1_ENST00000338675.6_Missense_Mutation_p.V106M	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	106	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)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GCAGCCCCCACGTTGGCCACT	0.567													C|||	1	0.000199681	8e-04	0	5008	,	,		18587	0		0	False		,,,				2504	0					ENST00000382409.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(316-318)Gtg>Atg		DEAF1 transcription factor		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	90	74	80		316	1.6	1	11	dbSNP_134	80	0,8600		0,0,4300	no	missense	DEAF1	NM_021008.2	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	106/566	691572	1,13005	2203	4300	6503	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:691572C>T	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"Zinc fingers, MYND-type"	14677	protein-coding gene	gene with protein product		602635	"deformed epidermal autoregulatory factor 1 (Drosophila)"			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.316G>A	11.37:g.691572C>T	ENSP00000371846:p.Val106Met		Somatic				DEAF1_ENST00000338675.6_Missense_Mutation_p.V106M	p.V106M	NM_021008.2	NP_066288.2	WXS	Illumina GAIIx	Phase_I	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	2	800	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	106			Ala-rich.		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.316G>A	CCDS31327.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.40	2.226658	0.39300	2.27E-4	0.0	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.75477	-0.94	3.55	1.63	0.23807	.	0.081845	0.49305	N	0.000156	T	0.59238	0.2179	L	0.29908	0.895	0.49687	D	0.999818	B	0.16166	0.016	B	0.12837	0.008	T	0.53443	-0.8438	10	0.87932	D	0	-17.9155	7.8829	0.29633	0.0:0.7793:0.0:0.2207	.	106	O75398	DEAF1_HUMAN	M	106;106;92;29	ENSP00000371846:V106M	ENSP00000341902:V106M	V	-	1	0	DEAF1	681572	1.000000	0.71417	0.985000	0.45067	0.812000	0.45895	4.590000	0.61013	0.263000	0.21812	0.462000	0.41574	GTG		0.567	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		12	25	0	0	0	1	0	12	25					T	691572	C	T	691572	3	4	48	1	0	0	0	0	1	0	0	0	4382	536	19	1	1425	1	DEAF1	11	691572	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	481625	691572	134314944	2604	7072										
MUC6	4588	broad.mit.edu	37	chr11	1016454	1016454	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggaaacaggagtggttgcaGaactcaagtgggggagttgt	17	4	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1016454G>T	ENST00000421673.2	-	31	6397	c.6347C>A	c.(6346-6348)tCt>tAt	p.S2116Y		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2116	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTGGTTGCAGAACTCAAGTG	0.522																																						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.(6346-6348)tCt>tAt		mucin 6, oligomeric mucus/gel-forming							119	125	123					11																	1016454		2071	4209	6280	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016454G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6347C>A	11.37:g.1016454G>T	ENSP00000406861:p.Ser2116Tyr		Somatic					p.S2116Y	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)	31	6397	-		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)	2116			Ser-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.6347C>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195741	0.38806	.	.	ENSG00000184956	ENST00000421673	T	0.19250	2.16	2.39	1.42	0.22433	.	.	.	.	.	T	0.18130	0.0435	L	0.29908	0.895	0.09310	N	1	P	0.46064	0.872	P	0.45881	0.496	T	0.11470	-1.0586	9	0.62326	D	0.03	.	7.251	0.26150	0.1568:0.0:0.8432:0.0	.	2116	Q6W4X9	MUC6_HUMAN	Y	2116	ENSP00000406861:S2116Y	ENSP00000406861:S2116Y	S	-	2	0	MUC6	1006454	0.019000	0.18553	0.002000	0.10522	0.250000	0.25880	1.209000	0.32357	0.276000	0.22118	0.185000	0.17295	TCT		0.522	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		27	40	1	0	4.72057e-08	1	5.51616e-08	27	40					T	1016454	G	T	1016454	3	4	48	1	0	0	0	0	1	0	0	0	9989	942	33	2	984	2	MUC6	11	1016454	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	324882	1016454	133990062	2605	7073										
MUC2	4583	broad.mit.edu	37	chr11	1088722	1088722	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgctacccccggtgccccaaGgacaggcccatctatgagga	11	15	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1088722G>T	ENST00000441003.2	+	26	3534	c.3507G>T	c.(3505-3507)aaG>aaT	p.K1169N	MUC2_ENST00000359061.5_Missense_Mutation_p.K1169N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1169					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)	GGTGCCCCAAGGACAGGCCCA	0.622																																						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.(3505-3507)aaG>aaT		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						51	58	56					11																	1088722		2050	4189	6239	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1088722G>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.3507G>T	11.37:g.1088722G>T	ENSP00000415183:p.Lys1169Asn		Somatic				MUC2_ENST00000359061.5_Missense_Mutation_p.K1169N	p.K1169N	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)	26	3534	+		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)	1169					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.3507G>T		.	.	.	.	.	.	.	.	.	.	G	4.521	0.096637	0.08681	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.54675	0.56;0.56	3.57	0.141	0.14811	.	622.786000	0.00447	U	0.000092	T	0.40297	0.1111	L	0.39245	1.2	0.09310	N	1	B	0.26876	0.162	B	0.24269	0.052	T	0.16070	-1.0415	10	0.39692	T	0.17	.	0.1765	0.00119	0.2899:0.1459:0.2483:0.316	.	1169	E7EUV1	.	N	1169	ENSP00000415183:K1169N;ENSP00000351956:K1169N	ENSP00000351956:K1169N	K	+	3	2	MUC2	1078722	0.000000	0.05858	0.000000	0.03702	0.894000	0.52154	-0.385000	0.07379	0.197000	0.20387	0.456000	0.33151	AAG		0.622	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		5	7	1	0	0.000602214	1	0.000636035	5	7					T	1088722	G	T	1088722	3	4	48	1	0	0	0	0	1	0	0	0	9984	991	35	5	3609	5	MUC2	11	1088722	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	72268	1088722	133917794	2606	7074										
MUC2	4583	broad.mit.edu	37	chr11	1095311	1095311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccctccaagccgacgcccgGcaccaagccccccgagtgcc	10	22	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1095311G>A	ENST00000441003.2	+	32	6158	c.6131G>A	c.(6130-6132)gGc>gAc	p.G2044D	MUC2_ENST00000361558.6_Missense_Mutation_p.G182D|MUC2_ENST00000333592.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4406					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)	CCGACGCCCGGCACCAAGCCC	0.672																																						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.(6130-6132)gGc>gAc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						45	61	55					11																	1095311		2027	4163	6190	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1095311G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.6131G>A	11.37:g.1095311G>A	ENSP00000415183:p.Gly2044Asp		Somatic				MUC2_ENST00000361558.6_Missense_Mutation_p.G182D|MUC2_ENST00000333592.6_3'UTR	p.G2044D	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)	32	6158	+		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)	2076					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.6131G>A		.	.	.	.	.	.	.	.	.	.	G	3.018	-0.202489	0.06219	.	.	ENSG00000198788	ENST00000441003;ENST00000361558	T;T	0.32515	2.7;1.45	2.64	0.54	0.17163	.	.	.	.	.	T	0.17704	0.0425	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.32161	-0.9917	9	0.11485	T	0.65	.	10.2621	0.43434	0.0:0.4852:0.5148:0.0	.	2044	E7EUV1	.	D	2044;182	ENSP00000415183:G2044D;ENSP00000354885:G182D	ENSP00000354885:G182D	G	+	2	0	MUC2	1085311	0.002000	0.14202	0.007000	0.13788	0.087000	0.18053	0.341000	0.19909	0.133000	0.18654	0.478000	0.44815	GGC		0.672	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		16	30	0	0	0	1	0	16	30					A	1095311	G	A	1095311	3	1	48	1	0	0	0	0	1	0	0	0	9984	1203	42	3	6249	3	MUC2	11	1095311	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	6589	1095311	133911205	2607	7075										
MUC5B	727897	broad.mit.edu	37	chr11	1276394	1276394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaggatggctgctgggcccCgactggcacaccccccactg	12	16	0	0	rs371978598		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1276394C>T	ENST00000529681.1	+	36	15846	c.15788C>T	c.(15787-15789)cCg>cTg	p.P5263L	MUC5B_ENST00000447027.1_Missense_Mutation_p.P5266L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5263	VWFD 4. {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)		TGCTGGGCCCCGACTGGCACA	0.672													C|||	1	0.000199681	0	0.0014	5008	,	,		8778	0		0	False		,,,				2504	0					ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(15796-15798)cCg>cTg		mucin 5B, oligomeric mucus/gel-forming		C	LEU/PRO	0,3942		0,0,1971	18	23	21		15788	0.1	0	11		21	1,8117		0,1,4058	no	missense	MUC5B	NM_002458.2	98	0,1,6029	TT,TC,CC		0.0123,0.0,0.0083	possibly-damaging	5263/5763	1276394	1,12059	1971	4059	6030	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1276394C>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.15788C>T	11.37:g.1276394C>T	ENSP00000436812:p.Pro5263Leu		Somatic				MUC5B_ENST00000529681.1_Missense_Mutation_p.P5263L	p.P5266L			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)	36	15855	+		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)	5263			VWFD 4.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.15797C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	8.737	0.917938	0.17982	0.0	1.23E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.18338	2.22;2.39	3.7	0.0633	0.14348	.	.	.	.	.	T	0.11110	0.0271	L	0.54323	1.7	0.09310	N	1	P;P	0.48640	0.913;0.913	B;B	0.30572	0.117;0.081	T	0.21895	-1.0232	9	0.87932	D	0	.	4.4962	0.11839	0.2267:0.5736:0.0:0.1998	.	5600;5266	A7Y9J9;E9PBJ0	.;.	L	5263;5266;5207;162;4975	ENSP00000436812:P5263L;ENSP00000415793:P5266L	ENSP00000343037:P5207L	P	+	2	0	MUC5B	1232970	0.000000	0.05858	0.000000	0.03702	0.251000	0.25915	0.071000	0.14594	-0.099000	0.12263	0.448000	0.29417	CCG		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		6	12	0	0	0	1	0	6	12					T	1276394	C	T	1276394	3	4	48	1	0	0	0	0	1	0	0	0	9988	652	23	1	15939	1	MUC5B	11	1276394	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	181083	1276394	133730122	2608	7076										
MUC5B	727897	broad.mit.edu	37	chr11	1279584	1279584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagctgtgttcgtacaatgGcaccttctacggggtaaggg	13	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1279584G>A	ENST00000529681.1	+	43	16638	c.16580G>A	c.(16579-16581)gGc>gAc	p.G5527D	MUC5B_ENST00000447027.1_Missense_Mutation_p.G5530D	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5527	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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)		TCGTACAATGGCACCTTCTAC	0.627																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(16588-16590)gGc>gAc		mucin 5B, oligomeric mucus/gel-forming							50	58	55					11																	1279584		2072	4194	6266	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1279584G>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.16580G>A	11.37:g.1279584G>A	ENSP00000436812:p.Gly5527Asp		Somatic				MUC5B_ENST00000529681.1_Missense_Mutation_p.G5527D	p.G5530D			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)	43	16647	+		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)	5527			VWFC 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.16589G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	9.101	1.004189	0.19199	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844;ENST00000526859	T;T;T	0.72615	-0.67;-0.67;-0.67	4.91	1.72	0.24424	.	.	.	.	.	T	0.60612	0.2282	L	0.33339	1.005	0.09310	N	1	P;P	0.46020	0.871;0.871	P;P	0.46479	0.518;0.518	T	0.53165	-0.8477	9	0.87932	D	0	.	3.7086	0.08411	0.2141:0.0:0.5932:0.1926	.	5864;5530	A7Y9J9;E9PBJ0	.;.	D	5527;5530;5471;426;5239;72	ENSP00000436812:G5527D;ENSP00000415793:G5530D;ENSP00000434539:G72D	ENSP00000343037:G5471D	G	+	2	0	MUC5B	1236160	0.003000	0.15002	0.045000	0.18777	0.015000	0.08874	0.981000	0.29526	0.564000	0.29238	0.462000	0.41574	GGC		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	16	0	0	0	1	0	5	16					A	1279584	G	A	1279584	3	1	48	1	0	0	0	0	1	0	0	0	9988	1203	42	3	16759	3	MUC5B	11	1279584	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3190	1279584	133726932	2609	7077										
BRSK2	9024	broad.mit.edu	37	chr11	1459617	1459617	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acgtttatgaaaacaaaaaaTatttgtaggtattgctgggt	9	3	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1459617T>G	ENST00000528841.1	+	3	652	c.268T>G	c.(268-270)Tat>Gat	p.Y90D	BRSK2_ENST00000382179.1_Missense_Mutation_p.Y136D|BRSK2_ENST00000526678.1_Missense_Mutation_p.Y90D|BRSK2_ENST00000528710.1_Missense_Mutation_p.Y30D|BRSK2_ENST00000308230.5_Missense_Mutation_p.Y90D|BRSK2_ENST00000531197.1_Missense_Mutation_p.Y90D|BRSK2_ENST00000308219.9_Missense_Mutation_p.Y90D			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	90	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AAACAAAAAATATTTGTAGGT	0.582																																						ENST00000308219.9																			0				endometrium(4)|large_intestine(1)|lung(5)	10						c.(268-270)Tat>Gat		BR serine/threonine kinase 2							84	94	91					11																	1459617		2130	4255	6385	SO:0001583	missense	9024				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr11:1459617T>G	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"serine/threonine kinase 29"	609236	"chromsosome 11 open reading frame 7"	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.268T>G	11.37:g.1459617T>G	ENSP00000432000:p.Tyr90Asp		Somatic				BRSK2_ENST00000526678.1_Missense_Mutation_p.Y90D|BRSK2_ENST00000531197.1_Missense_Mutation_p.Y90D|BRSK2_ENST00000382179.1_Missense_Mutation_p.Y136D|BRSK2_ENST00000528710.1_Missense_Mutation_p.Y30D|BRSK2_ENST00000528841.1_Missense_Mutation_p.Y90D|BRSK2_ENST00000308230.5_Missense_Mutation_p.Y90D	p.Y90D	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	WXS	Illumina GAIIx	Phase_I	Q8IWQ3	BRSK2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	3	654	+		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	90			Protein kinase.		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	c.268T>G	CCDS58107.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552769	0.65425	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528596;ENST00000524702;ENST00000528710;ENST00000382179	T;T;T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	2.57	2.57	0.30868	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	U	0.000001	T	0.66247	0.2770	L	0.38531	1.155	0.80722	D	1	P;D;P;P;P	0.89917	0.745;1.0;0.534;0.728;0.682	P;D;B;P;P	0.85130	0.662;0.997;0.415;0.598;0.462	T	0.62765	-0.6785	10	0.34782	T	0.22	.	9.7527	0.40485	0.0:0.0:0.0:1.0	.	90;136;90;90;90	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	D	90;90;90;90;90;30;30;30;136	ENSP00000310697:Y90D;ENSP00000431152:Y90D;ENSP00000310805:Y90D;ENSP00000432000:Y90D;ENSP00000433370:Y90D;ENSP00000434075:Y30D;ENSP00000432672:Y30D;ENSP00000433235:Y30D;ENSP00000371614:Y136D	ENSP00000310697:Y90D	Y	+	1	0	BRSK2	1416193	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.575000	0.46025	1.193000	0.43086	0.260000	0.18958	TAT		0.582	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		39	79	0	0	0	1	0	39	79					G	1459617	T	G	1459617	3	3	48	1	0	0	0	0	1	0	0	0	1526	1406	49	4	278	4	BRSK2	11	1459617	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	180033	1459617	133546899	2610	7078										
CTSD	1509	broad.mit.edu	37	chr11	1778571	1778571	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacctgctcaggtagaaggaGaagatgttctggtccaccag	12	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1778571G>T	ENST00000236671.2	-	5	819	c.687C>A	c.(685-687)ttC>ttA	p.F229L	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.S100Y	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	229			F -> I (in CLN10). {ECO:0000269|PubMed:16685649, ECO:0000269|PubMed:21990111}.		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)"	GGTAGAAGGAGAAGATGTTCT	0.637																																						ENST00000236671.2																			0				endometrium(1)|large_intestine(4)|lung(8)	13						c.(685-687)ttC>ttA		cathepsin D	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						120	83	95					11																	1778571		2202	4299	6501	SO:0001583	missense	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1778571G>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.687C>A	11.37:g.1778571G>T	ENSP00000236671:p.Phe229Leu		Somatic				RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.S100Y	p.F229L	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)	5	819	-		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)	229		F -> I (in CLN10).			Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	c.687C>A	CCDS7725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.3|22.3	4.271570|4.271570	0.80469|0.80469	.|.	.|.	ENSG00000117984|ENSG00000250644	ENST00000236671;ENST00000438213;ENST00000367196|ENST00000427721	T;T;T|.	0.71222|.	-0.55;-0.55;-0.55|.	4.07|4.07	1.01|1.01	0.19927|0.19927	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);|.	0.051567|.	0.85682|.	N|.	0.000000|.	D|D	0.84352|0.84352	0.5453|0.5453	H|H	0.97158|0.97158	3.95|3.95	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	D|D	0.84896|0.84896	0.0839|0.0839	10|5	0.87932|.	D|.	0|.	.|.	9.1157|9.1157	0.36755|0.36755	0.3188:0.0:0.6812:0.0|0.3188:0.0:0.6812:0.0	.|.	229|.	P07339|.	CATD_HUMAN|.	L|Y	229;214;194|100	ENSP00000236671:F229L;ENSP00000415036:F214L;ENSP00000356164:F194L|.	ENSP00000236671:F229L|.	F|S	-|-	3|2	2|0	CTSD|RP11-295K3.1	1735147|1735147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	1.206000|1.206000	0.32321|0.32321	0.373000|0.373000	0.24621|0.24621	0.472000|0.472000	0.43445|0.43445	TTC|TCT		0.637	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		13	29	1	0	4.3838e-07	1	4.998e-07	13	29					T	1778571	G	T	1778571	3	4	48	1	0	0	0	0	1	0	0	0	4034	933	33	2	571	2	CTSD	11	1778571	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	318954	1778571	133227945	2611	7079										
NUP98	4928	broad.mit.edu	37	chr11	3781836	3781836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgcttccaaatgtagtaagCttgttattgccaaacagggt	9	8	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:3781836C>T	ENST00000324932.7	-	10	1527	c.1107G>A	c.(1105-1107)aaG>aaA	p.K369K	NUP98_ENST00000359171.4_Silent_p.K369K|NUP98_ENST00000397007.4_Silent_p.K369K|NUP98_ENST00000397004.4_Silent_p.K369K|NUP98_ENST00000355260.3_Silent_p.K369K	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	369	FG repeats 2.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATGTAGTAAGCTTGTTATTGC	0.383			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(1105-1107)aaG>aaA		nucleoporin 98kDa							82	82	82					11																	3781836		2201	4298	6499	SO:0001819	synonymous_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3781836C>T	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1107G>A	11.37:g.3781836C>T			Somatic				NUP98_ENST00000355260.3_Silent_p.K369K|NUP98_ENST00000397007.4_Silent_p.K369K|NUP98_ENST00000397004.4_Silent_p.K369K|NUP98_ENST00000359171.4_Silent_p.K369K	p.K369K	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)	10	1527	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	369			Gly/Thr-rich.		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Silent	SNP	ENST00000324932.7	37	c.1107G>A	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	9.645	1.140088	0.21205	.	.	ENSG00000110713	ENST00000529379	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	T	0.63988	0.2558	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61907	-0.6966	4	.	.	.	.	11.9402	0.52896	0.0:0.9173:0.0:0.0827	.	.	.	.	N	18	.	.	S	-	2	0	NUP98	3738412	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.284000	0.43478	2.566000	0.86566	0.563000	0.77884	AGC		0.383	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		16	44	0	0	0	1	0	16	44					T	3781836	C	T	3781836	2	4	48	1	0	0	0	0	0	0	0	1	10782	796	28	3		3	NUP98	11	3781836	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2003265	3781836	131224680	2612	7080										
RHOG	391	broad.mit.edu	37	chr11	3849145	3849145	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacagatgacgaaaacgttgGtctgagggtaggagagtgta	15	4	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:3849145G>T	ENST00000351018.4	-	2	381	c.224C>A	c.(223-225)aCc>aAc	p.T75N	RHOG_ENST00000533217.1_Missense_Mutation_p.T75N|RHOG_ENST00000396978.1_Missense_Mutation_p.T75N|RHOG_ENST00000396979.1_Missense_Mutation_p.T75N	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN	ras homolog family member G	75					actin cytoskeleton organization (GO:0030036)|activation of Rac GTPase activity (GO:0032863)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|GTP catabolic process (GO:0006184)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of transcription, DNA-templated (GO:0045893)|Rac protein signal transduction (GO:0016601)|regulation of ruffle assembly (GO:1900027)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		GAAAACGTTGGTCTGAGGGTA	0.597																																						ENST00000351018.4																			0				endometrium(2)	2						c.(223-225)aCc>aAc		ras homolog family member G							87	71	76					11																	3849145		2201	4298	6499	SO:0001583	missense	391				actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:3849145G>T	X61587	CCDS7748.1	11p15.5-p15.4	2012-02-27	2012-02-27	2004-03-24	ENSG00000177105	ENSG00000177105			672	protein-coding gene	gene with protein product		179505	"ras homolog gene family, member G (rho G)"	ARHG		8325658	Standard	NM_001665		Approved	RhoG, MGC125835, MGC125836	uc001lyu.2	P84095	OTTHUMG00000012287	ENST00000351018.4:c.224C>A	11.37:g.3849145G>T	ENSP00000339467:p.Thr75Asn		Somatic				RHOG_ENST00000533217.1_Missense_Mutation_p.T75N|RHOG_ENST00000396978.1_Missense_Mutation_p.T75N|RHOG_ENST00000396979.1_Missense_Mutation_p.T75N	p.T75N	NM_001665.3	NP_001656.2	WXS	Illumina GAIIx	Phase_I	P84095	RHOG_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)	2	381	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	75					P35238|Q8NI04	Missense_Mutation	SNP	ENST00000351018.4	37	c.224C>A	CCDS7748.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340882	0.81911	.	.	ENSG00000177105	ENST00000351018;ENST00000396979;ENST00000396978;ENST00000533217	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.78	5.78	0.91487	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90147	0.6921	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93143	0.6543	10	0.87932	D	0	.	17.5078	0.87750	0.0:0.0:1.0:0.0	.	75	P84095	RHOG_HUMAN	N	75	ENSP00000339467:T75N;ENSP00000380176:T75N;ENSP00000380175:T75N;ENSP00000436932:T75N	ENSP00000339467:T75N	T	-	2	0	RHOG	3805721	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.724000	0.93272	0.563000	0.77884	ACC		0.597	RHOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034125.2	NM_001665		20	54	1	0	0.000175454	1	0.000188314	20	54					T	3849145	G	T	3849145	3	4	48	1	0	0	0	0	1	0	0	0	13354	1261	44	5	355	5	RHOG	11	3849145	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	67309	3849145	131157371	2613	7081										
TRIM68	55128	broad.mit.edu	37	chr11	4623410	4623410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccagcggacaggcctctgcGacctctctttcaactctgca	8	16	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:4623410G>A	ENST00000300747.5	-	4	1044	c.755C>T	c.(754-756)tCg>tTg	p.S252L		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	252					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)		AGGCCTCTGCGACCTCTCTTT	0.537																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(754-756)tCg>tTg		tripartite motif containing 68							111	108	109					11																	4623410		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.chr11:4623410G>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.755C>T	11.37:g.4623410G>A	ENSP00000300747:p.Ser252Leu		Somatic					p.S252L	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	1044	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	252					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.755C>T	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243248	0.39697	.	.	ENSG00000167333	ENST00000300747;ENST00000526337	T;T	0.04406	3.63;3.63	4.17	3.24	0.37175	.	0.840905	0.09967	N	0.732709	T	0.03263	0.0095	L	0.33753	1.03	0.09310	N	1	P	0.42827	0.791	B	0.34346	0.18	T	0.20874	-1.0262	10	0.11182	T	0.66	.	6.9211	0.24389	0.1253:0.0:0.8747:0.0	.	252	Q6AZZ1	TRI68_HUMAN	L	252;29	ENSP00000300747:S252L;ENSP00000434681:S29L	ENSP00000300747:S252L	S	-	2	0	TRIM68	4579986	0.000000	0.05858	0.023000	0.16930	0.251000	0.25915	0.435000	0.21510	2.249000	0.74217	0.491000	0.48974	TCG		0.537	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		31	47	0	0	0	1	0	31	47					A	4623410	G	A	4623410	3	1	48	1	0	0	0	0	1	0	0	0	16556	1059	37	1	718	1	TRIM68	11	4623410	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	774265	4623410	130383106	2614	7082										
OR51E2	81285	broad.mit.edu	37	chr11	4703813	4703813	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtccttacgatgaagaccacGatgcagtttccaaacattgc	8	11	0	2	rs574634498		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:4703813G>T	ENST00000396950.3	-	2	368	c.129C>A	c.(127-129)atC>atA	p.I43I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	43					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGAAGACCACGATGCAGTTTC	0.507																																						ENST00000396950.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(127-129)atC>atA		olfactory receptor, family 51, subfamily E, member 2							107	94	98					11																	4703813		2201	4298	6499	SO:0001819	synonymous_variant	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703813G>T	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"GPCR / Class A : Olfactory receptors"	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.129C>A	11.37:g.4703813G>T			Somatic					p.I43I	NM_030774.3	NP_110401.1	WXS	Illumina GAIIx	Phase_I	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	368	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	43					B2RA63|Q6IF94	Silent	SNP	ENST00000396950.3	37	c.129C>A	CCDS7751.1																																																																																				0.507	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		35	67	1	0	9.65963e-10	1	1.17364e-09	35	67					T	4703813	G	T	4703813	2	4	48	1	0	0	0	0	0	0	0	1	11104	1048	37	2		2	OR51E2	11	4703813	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	80403	4703813	130302703	2615	7083										
OR51S1	119692	broad.mit.edu	37	chr11	4869969	4869969	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagacccaggcatcgaaaaGaaatggccaggctgattttg	13	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:4869969G>T	ENST00000322101.2	-	1	545	c.470C>A	c.(469-471)tCt>tAt	p.S157Y	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S157F(1)		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)		GCATCGAAAAGAAATGGCCAG	0.552																																						ENST00000322101.2																			1	Substitution - Missense(1)	p.S157F(1)	skin(1)	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.(469-471)tCt>tAt		olfactory receptor, family 51, subfamily S, member 1							100	100	100					11																	4869969		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4869969G>T	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.470C>A	11.37:g.4869969G>T	ENSP00000322754:p.Ser157Tyr		Somatic				MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.S157Y	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	545	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	157					B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.470C>A	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	G	2.331	-0.353480	0.05173	.	.	ENSG00000176922	ENST00000322101	T	0.70164	-0.46	5.25	-4.68	0.03309	GPCR, rhodopsin-like superfamily (1);	1.003840	0.08028	N	0.993026	T	0.42494	0.1205	N	0.05441	-0.05	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.32693	-0.9897	10	0.62326	D	0.03	0.1112	9.7463	0.40448	0.7021:0.1216:0.1762:0.0	.	157	Q8NGJ8	O51S1_HUMAN	Y	157	ENSP00000322754:S157Y	ENSP00000322754:S157Y	S	-	2	0	OR51S1	4826545	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.006000	0.13152	-0.805000	0.04404	-1.778000	0.00651	TCT		0.552	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		55	93	1	0	1.07234e-20	1	1.47176e-20	55	93					T	4869969	G	T	4869969	3	4	48	1	0	0	0	0	1	0	0	0	11114	942	33	2	504	2	OR51S1	11	4869969	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	166156	4869969	130136547	2616	7084										
OR51G1	79324	broad.mit.edu	37	chr11	4945040	4945040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgaagacaataagcatgaGccagcacatgggagtggcag	15	7	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:4945040G>A	ENST00000321961.2	-	1	597	c.530C>T	c.(529-531)gCt>gTt	p.A177V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|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)		ATAAGCATGAGCCAGCACATG	0.522																																						ENST00000321961.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(529-531)gCt>gTt		olfactory receptor, family 51, subfamily G, member 1							81	71	75					11																	4945040		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945040G>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.530C>T	11.37:g.4945040G>A	ENSP00000322546:p.Ala177Val		Somatic				MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.A177V	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	597	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	177					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.530C>T	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739669	0.30774	.	.	ENSG00000176879	ENST00000321961	T	0.36699	1.24	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.201222	0.24618	U	0.036984	T	0.42404	0.1201	L	0.55990	1.75	0.09310	N	1	P	0.51933	0.949	P	0.50537	0.643	T	0.36065	-0.9763	10	0.87932	D	0	.	11.0434	0.47844	0.0:0.0:0.8141:0.1859	.	177	Q8NGK1	O51G1_HUMAN	V	177	ENSP00000322546:A177V	ENSP00000322546:A177V	A	-	2	0	OR51G1	4901616	0.003000	0.15002	0.988000	0.46212	0.043000	0.13939	1.296000	0.33389	2.299000	0.77371	0.557000	0.71058	GCT		0.522	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		15	41	0	0	0	1	0	15	41					A	4945040	G	A	4945040	3	1	48	1	0	0	0	0	1	0	0	0	11107	971	34	3	437	3	OR51G1	11	4945040	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	75071	4945040	130061476	2617	7085										
MMP26	56547	broad.mit.edu	37	chr11	5013298	5013298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accccacttactggtatcacGaccctagaaccttccagctc	5	17	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5013298G>A	ENST00000380390.1	+	6	916	c.700G>A	c.(700-702)Gac>Aac	p.D234N	MMP26_ENST00000300762.1_Missense_Mutation_p.D234N			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	234					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)	CTGGTATCACGACCCTAGAAC	0.488																																						ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(700-702)Gac>Aac		matrix metallopeptidase 26							86	77	80					11																	5013298		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5013298G>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.700G>A	11.37:g.5013298G>A	ENSP00000369753:p.Asp234Asn		Somatic				MMP26_ENST00000300762.1_Missense_Mutation_p.D234N	p.D234N			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)	6	916	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	234					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.700G>A	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	G	1.772	-0.484086	0.04383	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.20881	2.04;2.04	3.79	0.173	0.15036	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.457213	0.17864	N	0.159411	T	0.09423	0.0232	N	0.11698	0.16	0.09310	N	0.999998	B	0.17038	0.02	B	0.12156	0.007	T	0.32824	-0.9892	10	0.23302	T	0.38	-1.7104	6.861	0.24067	0.4181:0.0:0.5819:0.0	.	234	Q9NRE1	MMP26_HUMAN	N	234	ENSP00000369753:D234N;ENSP00000300762:D234N	ENSP00000300762:D234N	D	+	1	0	MMP26	4969874	0.005000	0.15991	0.001000	0.08648	0.081000	0.17604	-0.058000	0.11750	-0.177000	0.10690	-0.367000	0.07326	GAC		0.488	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		19	27	0	0	0	1	0	19	27					A	5013298	G	A	5013298	3	1	48	1	0	0	0	0	1	0	0	0	9672	1058	37	1	718	1	MMP26	11	5013298	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	68258	5013298	129993218	2618	7086										
OR52A5	390054	broad.mit.edu	37	chr11	5153355	5153355	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtgagagatgactgtagttCgatagtgtttcagacagcat	12	5	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5153355C>T	ENST00000307388.1	-	1	517	c.518G>A	c.(517-519)cGa>cAa	p.R173Q		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	173					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R173Q(1)		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)		GACTGTAGTTCGATAGTGTTT	0.448																																						ENST00000307388.1																			1	Substitution - Missense(1)	p.R173Q(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35						c.(517-519)cGa>cAa		olfactory receptor, family 52, subfamily A, member 5							123	118	120					11																	5153355		2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153355C>T	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.518G>A	11.37:g.5153355C>T	ENSP00000303469:p.Arg173Gln		Somatic					p.R173Q	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	517	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	173						Missense_Mutation	SNP	ENST00000307388.1	37	c.518G>A	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	C	6.014	0.371020	0.11409	.	.	ENSG00000171944	ENST00000307388	T	0.37411	1.2	5.22	-1.03	0.10102	GPCR, rhodopsin-like superfamily (1);	1.505630	0.04679	N	0.412078	T	0.28366	0.0701	L	0.33339	1.005	0.09310	N	1	B	0.29671	0.254	B	0.28232	0.087	T	0.29088	-1.0023	10	0.27785	T	0.31	.	10.5995	0.45358	0.0:0.4889:0.0:0.5111	.	173	Q9H2C5	O52A5_HUMAN	Q	173	ENSP00000303469:R173Q	ENSP00000303469:R173Q	R	-	2	0	OR52A5	5109931	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.211000	0.01226	-0.100000	0.12241	-0.136000	0.14681	CGA		0.448	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		34	76	0	0	0	1	0	34	76					T	5153355	C	T	5153355	3	4	48	1	0	0	0	0	1	0	0	0	11119	884	31	1	435	1	OR52A5	11	5153355	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	140057	5153355	129853161	2619	7087										
HBD	3045	broad.mit.edu	37	chr11	5254275	5254275	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcatttgtggggtgaattcCttgccaaagttgcgggccag	14	8	0	1	rs148878316	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5254275C>A	ENST00000380299.3	-	3	577	c.363G>T	c.(361-363)aaG>aaT	p.K121N	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	121					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)		GGGTGAATTCCTTGCCAAAGT	0.512																																						ENST00000380299.3																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16						c.(361-363)aaG>aaT		hemoglobin, delta							139	117	124					11																	5254275		2201	4298	6499	SO:0001583	missense	3045				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5254275C>A	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.363G>T	11.37:g.5254275C>A	ENSP00000369654:p.Lys121Asn		Somatic				HBD_ENST00000292901.3_Intron	p.K121N	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)	3	577	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	121					Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	ENST00000380299.3	37	c.363G>T	CCDS31376.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	7.451|7.451	0.642669|0.642669	0.14451|0.14451	.|.	.|.	ENSG00000223609|ENSG00000223609	ENST00000380299|ENST00000417377	D|D	0.93763|0.89050	-3.28|-2.46	4.81|4.81	-5.04|-5.04	0.02964|0.02964	Globin-like (1);Globin, structural domain (1);|.	1.190200|.	0.05791|.	N|.	0.610313|.	D|D	0.86707|0.86707	0.5997|0.5997	M|M	0.76328|0.76328	2.33|2.33	0.21064|0.21064	N|N	0.999792|0.999792	B|.	0.11235|.	0.004|.	B|.	0.18561|.	0.022|.	T|T	0.78763|0.78763	-0.2077|-0.2077	10|7	0.62326|0.87932	D|D	0.03|0	-1.1355|-1.1355	0.8159|0.8159	0.01102|0.01102	0.2436:0.245:0.1196:0.3918|0.2436:0.245:0.1196:0.3918	.|.	121|.	P02042|.	HBD_HUMAN|.	N|M	121|47	ENSP00000369654:K121N|ENSP00000414741:R47M	ENSP00000369654:K121N|ENSP00000414741:R47M	K|R	-|-	3|2	2|0	HBD|HBD	5210851|5210851	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.037000|0.037000	0.13140|0.13140	-1.620000|-1.620000	0.02046|0.02046	-0.857000|-0.857000	0.04115|0.04115	0.655000|0.655000	0.94253|0.94253	AAG|AGG		0.512	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519		32	58	1	0	2.85442e-18	1	3.86477e-18	32	58					A	5254275	C	A	5254275	3	1	48	1	0	0	0	0	1	0	0	0	6988	680	24	5	84	5	HBD	11	5254275	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	100920	5254275	129752241	2620	7088										
HBG1	3047	broad.mit.edu	37	chr11	5269669	5269669	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgcacctcaggggtgaattCtttgccgaaatggattgcca	11	10	2	1	rs34647752		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5269669C>A	ENST00000330597.3	-	3	451	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	CTD-2643I7.1_ENST00000564523.1_RNA	NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	122			E -> K (in Siena/Hull). {ECO:0000269|PubMed:6038320, ECO:0000269|PubMed:6188719}.		blood coagulation (GO:0007596)	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)			large_intestine(1)|lung(3)|skin(1)	5		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)		GGGGTGAATTCTTTGCCGAAA	0.517																																					Ovarian(117;2080 2193 33416 49679)	ENST00000330597.3																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(364-366)Gaa>Taa		hemoglobin, gamma A							56	54	55					11																	5269669		2201	4296	6497	SO:0001587	stop_gained	3047				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding	g.chr11:5269669C>A	M91036	CCDS7754.1	11p15.5	2014-05-19			ENSG00000213934	ENSG00000213934			4831	protein-coding gene	gene with protein product		142200				2649166	Standard	NM_000559		Approved	HBG-T2	uc001mah.1	P69891	OTTHUMG00000066681	ENST00000330597.3:c.364G>T	11.37:g.5269669C>A	ENSP00000327431:p.Glu122*		Somatic					p.E122*	NM_000559.2	NP_000550.2	WXS	Illumina GAIIx	Phase_I	P69891	HBG1_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	451	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	122		E -> K (in Siena/Hull).			P02096|P62027|Q549G1|Q8TDA1|Q96FH7	Nonsense_Mutation	SNP	ENST00000330597.3	37	c.364G>T	CCDS7754.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338169	0.41398	.	.	ENSG00000213934	ENST00000330597;ENST00000380256	.	.	.	2.59	1.65	0.23941	.	0.495862	0.19399	U	0.115236	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.3349	0.26605	0.0:0.856:0.0:0.144	.	.	.	.	X	122	.	ENSP00000327431:E122X	E	-	1	0	HBG1	5226245	0.994000	0.37717	0.439000	0.26833	0.221000	0.24807	3.587000	0.53957	0.404000	0.25506	0.462000	0.41574	GAA		0.517	HBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142982.1	NM_000559		27	29	1	0	8.16721e-17	1	1.09032e-16	27	29					A	5269669	C	A	5269669	4	1	48	1	0	0	0	0	0	1	0	0	6991	922	32	2	83	2	HBG1	11	5269669	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	15394	5269669	129736847	2621	7089										
TRIM34	53840	broad.mit.edu	37	chr11	5664849	5664849	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggctccctcatttacaagttCtctaaatgttgcttttctca	5	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5664849C>A	ENST00000514226.1	+	8	1714	c.1377C>A	c.(1375-1377)ttC>ttA	p.F459L	TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.F813L|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.F459L|TRIM34_ENST00000429814.2_Missense_Mutation_p.F459L|TRIM34_ENST00000495668.1_3'UTR	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	459	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTACAAGTTCTCTAAATGTT	0.453																																						ENST00000354852.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(2437-2439)ttC>ttA									158	157	157					11																	5664849		2201	4297	6498	SO:0001583	missense	0					intracellular	zinc ion binding	g.chr11:5664849C>A	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10063	protein-coding gene	gene with protein product		605684	"tripartite motif-containing 34"	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.1377C>A	11.37:g.5664849C>A	ENSP00000422947:p.Phe459Leu		Somatic				TRIM34_ENST00000514226.1_Missense_Mutation_p.F459L|TRIM34_ENST00000495668.1_3'UTR|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.F459L|TRIM34_ENST00000429814.2_Missense_Mutation_p.F459L	p.F813L	NM_001003819.3	NP_001003819.1	WXS	Illumina GAIIx	Phase_I	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	14	2612	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	813					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	c.2439C>A	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772879	0.49680	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	2.99	-1.64	0.08318	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	0.34460	N	0.003952	D	0.86628	0.5978	M	0.91406	3.205	0.09310	N	1	D;D	0.89917	0.994;1.0	D;D	0.79108	0.975;0.992	T	0.77566	-0.2540	10	0.87932	D	0	.	6.6089	0.22741	0.0:0.3967:0.0:0.6033	.	459;813	Q9BYJ4;B2RNG4	TRI34_HUMAN;.	L	813;459;459;459;813	ENSP00000422947:F459L;ENSP00000402595:F459L;ENSP00000395982:F459L;ENSP00000346916:F813L	ENSP00000402595:F459L	F	+	3	2	TRIM34;TRIM6-TRIM34	5621425	0.040000	0.19996	0.002000	0.10522	0.949000	0.60115	0.003000	0.13083	-0.355000	0.08199	0.467000	0.42956	TTC		0.453	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		38	105	1	0	4.62619e-21	1	6.37263e-21	38	105					A	5664849	C	A	5664849	3	1	48	1	0	0	0	0	1	0	0	0	16523	912	32	2	1376	2	TRIM34	11	5664849	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	395180	5664849	129341667	2622	7090										
TRIM5	85363	broad.mit.edu	37	chr11	5699533	5699533	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accatctcagtttcagagttCgtaaggcttttcagaatgtc	8	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5699533C>T	ENST00000380034.3	-	4	901	c.645G>A	c.(643-645)acG>acA	p.T215T	TRIM5_ENST00000305836.5_Silent_p.T215T|TRIM5_ENST00000396853.4_Silent_p.T215T|TRIM5_ENST00000396847.3_Silent_p.T215T|TRIM5_ENST00000396855.3_Silent_p.T215T|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Silent_p.T215T	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	215					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)		TTTCAGAGTTCGTAAGGCTTT	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.(643-645)acG>acA		tripartite motif containing 5							129	111	117					11																	5699533		2201	4297	6498	SO:0001819	synonymous_variant	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5699533C>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.645G>A	11.37:g.5699533C>T			Somatic				TRIM5_ENST00000396855.3_Silent_p.T215T|TRIM5_ENST00000396853.4_Silent_p.T215T|TRIM5_ENST00000380034.3_Silent_p.T215T|TRIM5_ENST00000396847.3_Silent_p.T215T|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380027.1_Silent_p.T215T	p.T215T			WXS	Illumina GAIIx	Phase_I	Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	947	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	215					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	ENST00000380034.3	37	c.645G>A	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	3.322	-0.138466	0.06669	.	.	ENSG00000132256	ENST00000438025	.	.	.	4.74	-0.944	0.10392	.	.	.	.	.	T	0.18467	0.0443	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23261	-1.0193	4	.	.	.	.	0.4029	0.00428	0.1969:0.202:0.1595:0.4417	.	.	.	.	Q	92	.	.	R	-	2	0	TRIM5	5656109	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.187000	0.00566	-0.007000	0.14345	-1.326000	0.01283	CGA		0.527	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		8	50	0	0	0	1	0	8	50					T	5699533	C	T	5699533	2	4	48	1	0	0	0	0	0	0	0	1	16540	871	31	1		1	TRIM5	11	5699533	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	34684	5699533	129306983	2623	7091										
OR52N5	390075	broad.mit.edu	37	chr11	5798916	5798916	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcacccttatcaccctggaAgaactttatgacactcttgc	6	13	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5798916A>C	ENST00000317093.2	-	1	981	c.949T>G	c.(949-951)Ttc>Gtc	p.F317V	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TCACCCTGGAAGAACTTTATG	0.348																																						ENST00000317093.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33						c.(949-951)Ttc>Gtc		olfactory receptor, family 52, subfamily N, member 5							95	87	90					11																	5798916		2122	4091	6213	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5798916A>C	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"GPCR / Class A : Olfactory receptors"	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.949T>G	11.37:g.5798916A>C	ENSP00000322866:p.Phe317Val		Somatic				TRIM5_ENST00000380027.1_Intron	p.F317V	NM_001001922.2	NP_001001922.2	WXS	Illumina GAIIx	Phase_I	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	981	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	317					B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.949T>G	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	A	4.579	0.107648	0.08780	.	.	ENSG00000181009	ENST00000317093	T	0.39787	1.06	3.27	3.27	0.37495	.	.	.	.	.	T	0.40546	0.1121	M	0.66439	2.03	0.09310	N	1	B	0.26708	0.157	B	0.28784	0.094	T	0.41662	-0.9496	9	0.72032	D	0.01	.	6.7666	0.23571	0.8806:0.0:0.1194:0.0	.	317	Q8NH56	O52N5_HUMAN	V	317	ENSP00000322866:F317V	ENSP00000322866:F317V	F	-	1	0	OR52N5	5755492	0.001000	0.12720	0.012000	0.15200	0.394000	0.30568	0.778000	0.26732	1.485000	0.48380	0.329000	0.21502	TTC		0.348	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		7	49	0	0	0	1	0	7	49					C	5798916	A	C	5798916	3	2	48	1	0	0	0	0	1	0	0	0	11139	72	3	4	29	4	OR52N5	11	5798916	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	99383	5798916	129207600	2624	7092										
OR52N1	79473	broad.mit.edu	37	chr11	5809140	5809140	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaacctaatgacactttctcGtacctgcctggttttcaccc	6	14	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5809140G>A	ENST00000317078.1	-	1	906	c.907C>T	c.(907-909)Cga>Tga	p.R303*	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACACTTTCTCGTACCTGCCTG	0.388																																						ENST00000317078.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31						c.(907-909)Cga>Tga		olfactory receptor, family 52, subfamily N, member 1							103	103	103					11																	5809140		2121	4092	6213	SO:0001587	stop_gained	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809140G>A	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"GPCR / Class A : Olfactory receptors"	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.907C>T	11.37:g.5809140G>A	ENSP00000322823:p.Arg303*		Somatic				TRIM5_ENST00000380027.1_Intron	p.R303*	NM_001001913.1	NP_001001913.1	WXS	Illumina GAIIx	Phase_I	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	906	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	303					Q6IFF6	Nonsense_Mutation	SNP	ENST00000317078.1	37	c.907C>T	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236079	0.22626	.	.	ENSG00000181001	ENST00000317078	.	.	.	4.35	2.39	0.29439	.	0.000000	0.32190	N	0.006450	.	.	.	.	.	.	0.49299	D	0.999775	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3993	0.32576	0.0849:0.0:0.7619:0.1532	.	.	.	.	X	303	.	ENSP00000322823:R303X	R	-	1	2	OR52N1	5765716	0.001000	0.12720	0.813000	0.32504	0.043000	0.13939	0.480000	0.22244	0.524000	0.28502	0.609000	0.83330	CGA		0.388	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		54	87	0	0	0	1	0	54	87					A	5809140	G	A	5809140	4	1	48	1	0	0	0	0	0	1	0	0	11136	1153	40	1	58	1	OR52N1	11	5809140	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	10224	5809140	129197376	2625	7093										
OR52E6	390078	broad.mit.edu	37	chr11	5862509	5862509	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagcacatccaataacaagaGagaaatactgccaagaccaa	7	10	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5862509G>T	ENST00000329322.5	-	1	618	c.619C>A	c.(619-621)Ctc>Atc	p.L207I	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.L211I	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATAACAAGAGAGAAATACTG	0.473																																						ENST00000329322.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(619-621)Ctc>Atc		olfactory receptor, family 52, subfamily E, member 6							67	66	66					11																	5862509		2201	4296	6497	SO:0001583	missense	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862509G>T	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"GPCR / Class A : Olfactory receptors"	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.619C>A	11.37:g.5862509G>T	ENSP00000328878:p.Leu207Ile		Somatic				TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.L211I	p.L207I	NM_001005167.1	NP_001005167.1	WXS	Illumina GAIIx	Phase_I	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	618	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	207					Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	c.619C>A	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	G	1.964	-0.438105	0.04636	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.39406	1.08;1.08	3.45	-6.91	0.01649	GPCR, rhodopsin-like superfamily (1);	0.554937	0.16105	N	0.229363	T	0.13841	0.0335	N	0.05510	-0.035	0.09310	N	1	B	0.02656	0.0	B	0.13407	0.009	T	0.20438	-1.0275	10	0.14252	T	0.57	.	4.8203	0.13387	0.0803:0.1811:0.1282:0.6105	.	207	Q96RD3	O52E6_HUMAN	I	207;211	ENSP00000328878:L207I;ENSP00000369279:L211I	ENSP00000328878:L207I	L	-	1	0	OR52E6	5819085	0.000000	0.05858	0.000000	0.03702	0.271000	0.26615	-2.804000	0.00759	-1.692000	0.01428	-0.269000	0.10298	CTC		0.473	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		20	44	1	0	2.4624e-09	1	2.95225e-09	20	44					T	5862509	G	T	5862509	3	4	48	1	0	0	0	0	1	0	0	0	11126	942	33	2	324	2	OR52E6	11	5862509	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	53369	5862509	129144007	2626	7094										
OR56A4	120793	broad.mit.edu	37	chr11	6023301	6023301	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttacaacctcttcagcaggtTttggattccctgcttgatct	7	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:6023301T>G	ENST00000330728.4	-	1	1123	c.1078A>C	c.(1078-1080)Aac>Cac	p.N360H		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	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)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCAGCAGGTTTTGGATTCCC	0.418																																						ENST00000330728.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32						c.(1078-1080)Aac>Cac		olfactory receptor, family 56, subfamily A, member 4							60	62	61					11																	6023301		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023301T>G	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"GPCR / Class A : Olfactory receptors"	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.1078A>C	11.37:g.6023301T>G	ENSP00000328215:p.Asn360His		Somatic					p.N360H	NM_001005179.2	NP_001005179.2	WXS	Illumina GAIIx	Phase_I	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	1123	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	308					B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.1078A>C	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	T	9.755	1.168464	0.21621	.	.	ENSG00000183389	ENST00000330728	T	0.37752	1.18	4.15	2.98	0.34508	.	0.419670	0.17009	U	0.190602	T	0.16685	0.0401	N	0.02751	-0.505	0.09310	N	1	P	0.35944	0.529	B	0.39590	0.304	T	0.10730	-1.0617	10	0.35671	T	0.21	.	7.0422	0.25027	0.2008:0.0:0.0:0.7992	.	308	Q8NGH8	O56A4_HUMAN	H	360	ENSP00000328215:N360H	ENSP00000328215:N360H	N	-	1	0	OR56A4	5979877	0.001000	0.12720	0.005000	0.12908	0.100000	0.18952	0.989000	0.29629	0.684000	0.31448	0.533000	0.62120	AAC		0.418	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		17	32	0	0	0	1	0	17	32					G	6023301	T	G	6023301	3	3	48	1	0	0	0	0	1	0	0	0	11144	1841	64	4	21	4	OR56A4	11	6023301	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	160792	6023301	128983215	2627	7095										
FAM160A2	84067	broad.mit.edu	37	chr11	6244441	6244441	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttcgaggcagtgatgagtAcagggcactgagccctgtgg	15	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:6244441A>G	ENST00000449352.2	-	4	1068	c.805T>C	c.(805-807)Tac>Cac	p.Y269H	FAM160A2_ENST00000524416.1_Missense_Mutation_p.Y269H|FAM160A2_ENST00000265978.4_Missense_Mutation_p.Y269H			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	269					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTGATGAGTACAGGGCACTG	0.478																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(805-807)Tac>Cac		family with sequence similarity 160, member A2							106	108	107					11																	6244441		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6244441A>G		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.805T>C	11.37:g.6244441A>G	ENSP00000416918:p.Tyr269His		Somatic				FAM160A2_ENST00000524416.1_Missense_Mutation_p.Y269H|FAM160A2_ENST00000449352.2_Missense_Mutation_p.Y269H	p.Y269H	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	WXS	Illumina GAIIx	Phase_I	Q8N612	F16A2_HUMAN			4	1163	-			269					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.805T>C	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.316610	0.81469	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.61627	0.09;0.09;0.09	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.79347	0.4430	M	0.88979	2.995	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.83367	0.0005	10	0.66056	D	0.02	-14.7519	14.4538	0.67404	1.0:0.0:0.0:0.0	.	269;269;269	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	H	269;194;269;269	ENSP00000416918:Y269H;ENSP00000265978:Y269H;ENSP00000431773:Y269H	ENSP00000265978:Y269H	Y	-	1	0	FAM160A2	6201017	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.139000	0.94554	2.209000	0.71365	0.533000	0.62120	TAC		0.478	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		20	168	0	0	0	1	0	20	168					G	6244441	A	G	6244441	3	3	48	1	0	0	0	0	1	0	0	0	5474	391	14	4	2191	4	FAM160A2	11	6244441	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	221140	6244441	128762075	2628	7096										
OR2D3	120775	broad.mit.edu	37	chr11	6943085	6943085	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaactccaagactacaaaaGaactggataaaatgatatct	5	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:6943085G>T	ENST00000317834.3	+	1	881	c.853G>T	c.(853-855)Gaa>Taa	p.E285*		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GACTACAAAAGAACTGGATAA	0.423																																						ENST00000317834.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27						c.(853-855)Gaa>Taa		olfactory receptor, family 2, subfamily D, member 3							103	101	102					11																	6943085		2201	4296	6497	SO:0001587	stop_gained	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6943085G>T	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"GPCR / Class A : Olfactory receptors"	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.853G>T	11.37:g.6943085G>T	ENSP00000320560:p.Glu285*		Somatic					p.E285*	NM_001004684.1	NP_001004684.1	WXS	Illumina GAIIx	Phase_I	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	881	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	285					B2RP06|Q6IFG8|Q96R51	Nonsense_Mutation	SNP	ENST00000317834.3	37	c.853G>T	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562193	0.27915	.	.	ENSG00000178358	ENST00000317834	.	.	.	4.95	4.02	0.46733	.	0.734664	0.11688	N	0.539184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-13.8899	10.5715	0.45202	0.096:0.0:0.904:0.0	.	.	.	.	X	285	.	ENSP00000320560:E285X	E	+	1	0	OR2D3	6899661	0.000000	0.05858	0.004000	0.12327	0.011000	0.07611	0.239000	0.18023	1.433000	0.47394	0.655000	0.94253	GAA		0.423	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		30	42	1	0	2.47511e-08	1	2.91589e-08	30	42					T	6943085	G	T	6943085	4	4	48	1	0	0	0	0	0	1	0	0	11004	943	33	2	855	2	OR2D3	11	6943085	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	698644	6943085	128063431	2629	7097										
NLRP14	338323	broad.mit.edu	37	chr11	7060094	7060094	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atctgtgtgagagagcgaaaGaagagatcaactgtgagtga	14	4	2	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7060094G>T	ENST00000299481.4	+	2	623	c.277G>T	c.(277-279)Gaa>Taa	p.E93*		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	93	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)		GAGAGCGAAAGAAGAGATCAA	0.458																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(277-279)Gaa>Taa		NLR family, pyrin domain containing 14							56	60	58					11																	7060094		2201	4296	6497	SO:0001587	stop_gained	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7060094G>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.277G>T	11.37:g.7060094G>T	ENSP00000299481:p.Glu93*		Somatic					p.E93*	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	623	+			93			DAPIN.		Q7RTR6	Nonsense_Mutation	SNP	ENST00000299481.4	37	c.277G>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	37	6.503892	0.97620	.	.	ENSG00000158077	ENST00000299481	.	.	.	4.08	3.13	0.36017	.	0.834737	0.10341	N	0.686289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	9.0241	0.36218	0.0:0.0:0.7805:0.2195	.	.	.	.	X	93	.	ENSP00000299481:E93X	E	+	1	0	NLRP14	7016670	0.460000	0.25776	0.953000	0.39169	0.734000	0.41952	0.421000	0.21280	1.237000	0.43756	0.655000	0.94253	GAA		0.458	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		5	37	1	0	1	1	1	5	37					T	7060094	G	T	7060094	4	4	48	1	0	0	0	0	0	1	0	0	10485	943	33	2	279	2	NLRP14	11	7060094	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	117009	7060094	127946422	2630	7098										
NLRP14	338323	broad.mit.edu	37	chr11	7063935	7063935	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaattaaccagctgaaagaGagaagctttgctcaattgat	9	6	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7063935G>T	ENST00000299481.4	+	4	1024	c.678G>T	c.(676-678)gaG>gaT	p.E226D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	226	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)		AGCTGAAAGAGAGAAGCTTTG	0.423																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(676-678)gaG>gaT		NLR family, pyrin domain containing 14							95	102	100					11																	7063935		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7063935G>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.678G>T	11.37:g.7063935G>T	ENSP00000299481:p.Glu226Asp		Somatic					p.E226D	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	1024	+			226			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.678G>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384548	0.25031	.	.	ENSG00000158077	ENST00000299481	T	0.81078	-1.45	4.56	-3.05	0.05396	NACHT nucleoside triphosphatase (1);	0.000000	0.47455	D	0.000225	T	0.79936	0.4532	L	0.39147	1.195	0.09310	N	1	D	0.65815	0.995	D	0.66716	0.946	T	0.73272	-0.4035	10	0.29301	T	0.29	.	10.7466	0.46183	0.6192:0.0:0.3808:0.0	.	226	Q86W24	NAL14_HUMAN	D	226	ENSP00000299481:E226D	ENSP00000299481:E226D	E	+	3	2	NLRP14	7020511	0.000000	0.05858	0.004000	0.12327	0.025000	0.11179	-0.361000	0.07612	-0.448000	0.07128	0.650000	0.86243	GAG		0.423	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		36	74	1	0	4.34311e-12	1	5.44389e-12	36	74					T	7063935	G	T	7063935	3	4	48	1	0	0	0	0	1	0	0	0	10485	933	33	2	688	2	NLRP14	11	7063935	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3841	7063935	127942581	2631	7099										
OLFML1	283298	broad.mit.edu	37	chr11	7531307	7531307	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttcttccccaagagaccaaGaagtcactccatgatccatt	6	13	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7531307G>T	ENST00000329293.3	+	3	1491	c.1097G>T	c.(1096-1098)aGa>aTa	p.R366I	OLFML1_ENST00000530135.1_Missense_Mutation_p.R366I|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	366	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AAGAGACCAAGAAGTCACTCC	0.498																																						ENST00000329293.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24						c.(1096-1098)aGa>aTa		olfactomedin-like 1							94	85	88					11																	7531307		2201	4296	6497	SO:0001583	missense	283298					extracellular region		g.chr11:7531307G>T	AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.1097G>T	11.37:g.7531307G>T	ENSP00000332511:p.Arg366Ile		Somatic				OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Missense_Mutation_p.R366I|CTD-2516F10.2_ENST00000530201.1_RNA	p.R366I	NM_198474.3	NP_940876.2	WXS	Illumina GAIIx	Phase_I	Q6UWY5	OLFL1_HUMAN		Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	3	1491	+			366			Olfactomedin-like.		B4DP03|Q569G4	Missense_Mutation	SNP	ENST00000329293.3	37	c.1097G>T	CCDS7779.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224069	0.58668	.	.	ENSG00000183801	ENST00000530135;ENST00000329293	D;D	0.89415	-2.51;-2.51	5.51	3.54	0.40534	Olfactomedin-like (3);	0.234064	0.41823	D	0.000812	D	0.89213	0.6651	L	0.53249	1.67	0.80722	D	1	P;P	0.52692	0.912;0.955	P;P	0.54210	0.679;0.745	D	0.88369	0.2993	10	0.54805	T	0.06	.	8.965	0.35872	0.0828:0.1494:0.7678:0.0	.	230;366	B4DN61;Q6UWY5	.;OLFL1_HUMAN	I	366	ENSP00000433455:R366I;ENSP00000332511:R366I	ENSP00000332511:R366I	R	+	2	0	OLFML1	7487883	0.080000	0.21391	1.000000	0.80357	0.982000	0.71751	1.902000	0.39848	1.338000	0.45544	-0.244000	0.11960	AGA		0.498	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474		24	43	1	0	5.35356e-11	1	6.62625e-11	24	43					T	7531307	G	T	7531307	3	4	48	1	0	0	0	0	1	0	0	0	10865	942	33	2	1107	2	OLFML1	11	7531307	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	467372	7531307	127475209	2632	7100										
PPFIBP2	8495	broad.mit.edu	37	chr11	7663587	7663587	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgctggggatggcagagtttCgacgaggtgggctccgggca	19	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7663587C>T	ENST00000299492.4	+	17	1964	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	PPFIBP2_ENST00000528883.1_Nonsense_Mutation_p.R414*|PPFIBP2_ENST00000533792.1_Nonsense_Mutation_p.R368*|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Nonsense_Mutation_p.R383*	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	526					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)		GGCAGAGTTTCGACGAGGTGG	0.527																																						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.(1576-1578)Cga>Tga		PTPRF interacting protein, binding protein 2 (liprin beta 2)							57	53	55					11																	7663587		2201	4296	6497	SO:0001587	stop_gained	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7663587C>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.1576C>T	11.37:g.7663587C>T	ENSP00000299492:p.Arg526*		Somatic				PPFIBP2_ENST00000530181.1_Nonsense_Mutation_p.R383*|PPFIBP2_ENST00000528883.1_Nonsense_Mutation_p.R414*|PPFIBP2_ENST00000533792.1_Nonsense_Mutation_p.R368*|PPFIBP2_ENST00000530582.1_3'UTR	p.R526*	NM_003621.3	NP_003612.2	WXS	Illumina GAIIx	Phase_I	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	17	1964	+			526					B7Z433|E9PK77|O75337|Q8WW26	Nonsense_Mutation	SNP	ENST00000299492.4	37	c.1576C>T	CCDS31419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.301294|5.301294	0.95601|0.95601	.|.	.|.	ENSG00000166387|ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181|ENST00000534409	.|.	.|.	.|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.101238|.	0.42964|.	D|.	0.000640|.	.|T	.|0.63319	.|0.2501	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68712	.|-0.5336	.|3	0.05351|.	T|.	0.99|.	-9.0482|-9.0482	12.6855|12.6855	0.56946|0.56946	0.1647:0.8353:0.0:0.0|0.1647:0.8353:0.0:0.0	.|.	.|.	.|.	.|.	X|L	526;368;368;449;414;383|216	.|.	ENSP00000299492:R526X|.	R|S	+|+	1|2	2|0	PPFIBP2|PPFIBP2	7620163|7620163	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	2.722000|2.722000	0.47269|0.47269	2.798000|2.798000	0.96311|0.96311	0.650000|0.650000	0.86243|0.86243	CGA|TCG		0.527	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		11	21	0	0	0	1	0	11	21					T	7663587	C	T	7663587	4	4	48	1	0	0	0	0	0	1	0	0	12323	876	31	1	1638	1	PPFIBP2	11	7663587	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	132280	7663587	127342929	2633	7101										
OR5P2	120065	broad.mit.edu	37	chr11	7817521	7817521	+	Nonstop_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaagagaagagatagggttCtatgtaatatcattatttga	9	3	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7817521C>A	ENST00000329434.2	-	1	999	c.969G>T	c.(967-969)taG>taT	p.*323Y	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		AGATAGGGTTCTATGTAATAT	0.348																																						ENST00000329434.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(967-969)taG>taT		olfactory receptor, family 5, subfamily P, member 2							89	125	113					11																	7817521		2109	4292	6401	SO:0001578	stop_lost	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7817521C>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.969G>T	11.37:g.7817521C>A			Somatic				RP11-35J10.5_ENST00000527565.1_lincRNA	p.*323Y	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	999	-			0					Q3MIS8	Nonstop_Mutation	SNP	ENST00000329434.2	37	c.969G>T	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.880313	0.00537	.	.	ENSG00000183303	ENST00000329434	.	.	.	0.954	-1.91	0.07641	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.7971	0.03063	0.2767:0.3102:0.0:0.4131	.	.	.	.	Y	323	.	.	X	-	3	2	OR5P2	7774097	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.008000	0.01456	-1.112000	0.02984	-0.376000	0.06991	TAG		0.348	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		33	65	1	0	1.06647e-15	1	1.40869e-15	33	65					A	7817521	C	A	7817521	4	1	48	1	0	0	0	0	0	0	0	0	11187	927	32	2	3	2	OR5P2	11	7817521	Nonstop_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	153934	7817521	127188995	2634	7102										
NLRP10	338322	broad.mit.edu	37	chr11	7982477	7982477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacaggggcttgattgtcccCgcagcaccagaaaaggagct	13	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7982477C>T	ENST00000328600.2	-	2	843	c.682G>A	c.(682-684)Ggg>Agg	p.G228R		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	228	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)		TGATTGTCCCCGCAGCACCAG	0.522																																						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.(682-684)Ggg>Agg		NLR family, pyrin domain containing 10							36	38	37					11																	7982477		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982477C>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.682G>A	11.37:g.7982477C>T	ENSP00000327763:p.Gly228Arg		Somatic					p.G228R	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	843	-			228			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.682G>A	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347619	0.24426	.	.	ENSG00000182261	ENST00000328600	T	0.77750	-1.12	5.25	4.34	0.51931	NACHT nucleoside triphosphatase (1);	0.176777	0.27618	N	0.018569	T	0.77805	0.4185	L	0.32530	0.975	0.09310	N	1	D	0.63046	0.992	P	0.58660	0.843	T	0.69491	-0.5131	10	0.72032	D	0.01	.	10.211	0.43141	0.0:0.9074:0.0:0.0926	.	228	Q86W26	NAL10_HUMAN	R	228	ENSP00000327763:G228R	ENSP00000327763:G228R	G	-	1	0	NLRP10	7939053	0.001000	0.12720	0.462000	0.27118	0.004000	0.04260	0.875000	0.28079	1.369000	0.46134	0.655000	0.94253	GGG		0.522	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		17	36	0	0	0	1	0	17	36					T	7982477	C	T	7982477	3	4	48	1	0	0	0	0	1	0	0	0	10481	652	23	1	1289	1	NLRP10	11	7982477	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	164956	7982477	127024039	2635	7103			2	8		4	4	383	N	T_C	3.122965e-05
NLRP10	338322	broad.mit.edu	37	chr11	7982699	7982699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcccctgaatcaaatagagCctccaccgtgacagactcca	6	15	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7982699C>T	ENST00000328600.2	-	2	621	c.460G>A	c.(460-462)Gct>Act	p.A154T		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	154					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)		TCAAATAGAGCCTCCACCGTG	0.572																																						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.(460-462)Gct>Act		NLR family, pyrin domain containing 10							55	56	55					11																	7982699		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982699C>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.460G>A	11.37:g.7982699C>T	ENSP00000327763:p.Ala154Thr		Somatic					p.A154T	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	621	-			154					Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.460G>A	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	1.800	-0.477277	0.04414	.	.	ENSG00000182261	ENST00000328600	T	0.79352	-1.26	5.25	-3.05	0.05396	.	0.572244	0.14689	N	0.304298	T	0.49712	0.1573	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.35025	-0.9805	10	0.16420	T	0.52	.	5.5565	0.17119	0.154:0.224:0.0:0.6219	.	154	Q86W26	NAL10_HUMAN	T	154	ENSP00000327763:A154T	ENSP00000327763:A154T	A	-	1	0	NLRP10	7939275	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.996000	0.03709	-0.315000	0.08703	-0.768000	0.03414	GCT		0.572	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		25	52	0	0	0	1	0	25	52					T	7982699	C	T	7982699	3	4	48	1	0	0	0	0	1	0	0	0	10481	739	26	3	1511	3	NLRP10	11	7982699	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	222	7982699	127023817	2636	7104			2	8		4	4	383	N	T_C	3.122965e-05
NLRP10	338322	broad.mit.edu	37	chr11	7982839	7982839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgccattcctctaggcagCgcacatgctctcggtatact	8	15	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7982839C>T	ENST00000328600.2	-	2	481	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	107					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.R107H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCTAGGCAGCGCACATGCTC	0.507																																						ENST00000328600.2																			1	Substitution - Missense(1)	p.R107H(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(319-321)cGc>cAc		NLR family, pyrin domain containing 10							69	69	69					11																	7982839		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982839C>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.320G>A	11.37:g.7982839C>T	ENSP00000327763:p.Arg107His		Somatic					p.R107H	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	481	-			107					Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.320G>A	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044542	0.55110	.	.	ENSG00000182261	ENST00000328600	T	0.80566	-1.39	4.85	-0.561	0.11785	.	0.577059	0.14625	N	0.308170	T	0.62146	0.2404	L	0.29908	0.895	0.09310	N	1	P	0.46578	0.88	B	0.37943	0.261	T	0.57682	-0.7769	10	0.66056	D	0.02	.	3.1733	0.06560	0.3152:0.4165:0.0:0.2684	.	107	Q86W26	NAL10_HUMAN	H	107	ENSP00000327763:R107H	ENSP00000327763:R107H	R	-	2	0	NLRP10	7939415	0.000000	0.05858	0.685000	0.30070	0.331000	0.28603	-1.519000	0.02243	0.019000	0.15079	0.655000	0.94253	CGC		0.507	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		4	80	0	0	0	1	0	4	80					T	7982839	C	T	7982839	3	4	48	1	0	0	0	0	1	0	0	0	10481	768	27	1	1651	1	NLRP10	11	7982839	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	140	7982839	127023677	2637	7105			2	8		4	4	383	N	T_C	3.122965e-05
NLRP10	338322	broad.mit.edu	37	chr11	7982859	7982859	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgcacatgctctcggtatacTtctctgtaatctgagccaaa	7	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7982859T>G	ENST00000328600.2	-	2	461	c.300A>C	c.(298-300)gaA>gaC	p.E100D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	100					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)		CTCGGTATACTTCTCTGTAAT	0.493																																						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.(298-300)gaA>gaC		NLR family, pyrin domain containing 10							59	59	59					11																	7982859		2201	4295	6496	SO:0001583	missense	338322						ATP binding	g.chr11:7982859T>G	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.300A>C	11.37:g.7982859T>G	ENSP00000327763:p.Glu100Asp		Somatic					p.E100D	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	461	-			100					Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.300A>C	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	T	13.81	2.348167	0.41599	.	.	ENSG00000182261	ENST00000328600	T	0.80738	-1.41	4.85	-0.757	0.11054	.	0.543217	0.15558	N	0.256063	T	0.60818	0.2298	L	0.29908	0.895	0.23138	N	0.998238	B	0.06786	0.001	B	0.15870	0.014	T	0.37820	-0.9689	10	0.15952	T	0.53	.	2.1045	0.03688	0.1502:0.0885:0.3107:0.4505	.	100	Q86W26	NAL10_HUMAN	D	100	ENSP00000327763:E100D	ENSP00000327763:E100D	E	-	3	2	NLRP10	7939435	0.182000	0.23173	0.925000	0.36789	0.922000	0.55478	0.031000	0.13710	-0.210000	0.10140	0.533000	0.62120	GAA		0.493	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		19	45	0	0	0	1	0	19	45					G	7982859	T	G	7982859	3	3	48	1	0	0	0	0	1	0	0	0	10481	1606	56	4	1671	4	NLRP10	11	7982859	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	20	7982859	127023657	2638	7106			2	8		4	4	383	N	T_C	3.122965e-05
EIF3F	8665	broad.mit.edu	37	chr11	8013686	8013686	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaactgcataaaaaagtttCtccaaatgagctcatcctgg	7	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:8013686C>A	ENST00000533626.1	+	5	1117	c.491C>A	c.(490-492)tCt>tAt	p.S164Y	EIF3F_ENST00000537635.1_Missense_Mutation_p.S179Y|EIF3F_ENST00000309828.4_Missense_Mutation_p.S164Y|EIF3F_ENST00000449102.2_Missense_Mutation_p.S15Y					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAAAAGTTTCTCCAAATGAG	0.478																																						ENST00000533626.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13						c.(490-492)tCt>tAt		eukaryotic translation initiation factor 3, subunit F							47	43	45					11																	8013686		2201	4296	6497	SO:0001583	missense	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8013686C>A	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.491C>A	11.37:g.8013686C>A	ENSP00000431800:p.Ser164Tyr		Somatic				EIF3F_ENST00000449102.2_Missense_Mutation_p.S15Y|EIF3F_ENST00000309828.4_Missense_Mutation_p.S164Y|EIF3F_ENST00000537635.1_Missense_Mutation_p.S179Y	p.S164Y			WXS	Illumina GAIIx	Phase_I	O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	5	1117	+			164			MPN.			Missense_Mutation	SNP	ENST00000533626.1	37	c.491C>A	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332482	0.60853	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	4.5	4.5	0.54988	.	0.055190	0.85682	D	0.000000	T	0.43255	0.1239	N	0.19112	0.55	0.80722	D	1	B	0.22276	0.067	B	0.31245	0.126	T	0.47182	-0.9137	10	0.87932	D	0	-9.3858	15.588	0.76502	0.0:1.0:0.0:0.0	.	164	O00303	EIF3F_HUMAN	Y	164;179;164;114;15	ENSP00000431800:S164Y;ENSP00000442283:S179Y;ENSP00000310040:S164Y;ENSP00000396929:S15Y	ENSP00000310040:S164Y	S	+	2	0	EIF3F	7970262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.269000	0.78482	2.452000	0.82932	0.644000	0.83932	TCT		0.478	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754		10	15	1	0	1.76689e-08	1	2.08373e-08	10	15					A	8013686	C	A	8013686	3	1	48	1	0	0	0	0	1	0	0	0	5018	913	32	2	501	2	EIF3F	11	8013686	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	30827	8013686	126992830	2639	7107										
SCUBE2	57758	broad.mit.edu	37	chr11	9069544	9069544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcaacagtgataaacatttCcttaggggtgcttggtcggc	11	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:9069544C>T	ENST00000309263.3	-	14	1726	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K	SCUBE2_ENST00000520467.1_Missense_Mutation_p.E581K|SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000457346.2_Missense_Mutation_p.E581K|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	552						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)		ATAAACATTTCCTTAGGGGTG	0.498																																						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.(1741-1743)Gaa>Aaa		signal peptide, CUB domain, EGF-like 2							172	179	177					11																	9069544		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9069544C>T	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1654G>A	11.37:g.9069544C>T	ENSP00000310658:p.Glu552Lys		Somatic				RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.E581K|SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000309263.3_Missense_Mutation_p.E552K	p.E581K			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)	15	1815	-			552					Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.1741G>A		.	.	.	.	.	.	.	.	.	.	C	17.66	3.444113	0.63067	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000520467	T;D;D	0.81579	-1.33;-1.5;-1.51	4.89	3.98	0.46160	.	0.095256	0.64402	D	0.000001	D	0.83995	0.5375	.	.	.	0.40108	D	0.976452	P;P	0.41393	0.748;0.632	P;B	0.52109	0.69;0.41	T	0.83148	-0.0105	9	0.35671	T	0.21	.	13.5568	0.61763	0.0:0.9237:0.0:0.0763	.	581;552	Q9NQ36-2;Q9NQ36	.;SCUB2_HUMAN	K	581;552;581	ENSP00000390481:E581K;ENSP00000310658:E552K;ENSP00000429969:E581K	ENSP00000310658:E552K	E	-	1	0	SCUBE2	9026120	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.812000	0.75226	1.189000	0.43028	0.655000	0.94253	GAA		0.498	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		77	135	0	0	0	1	0	77	135					T	9069544	C	T	9069544	3	4	48	1	0	0	0	0	1	0	0	0	13960	864	30	3	1381	3	SCUBE2	11	9069544	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1055858	9069544	125936972	2640	7108										
WEE1	7465	broad.mit.edu	37	chr11	9598080	9598080	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagtcccggtatacaacagAatttcatgagctagagaaaa	9	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:9598080A>C	ENST00000450114.2	+	4	1146	c.893A>C	c.(892-894)gAa>gCa	p.E298A	snoU13_ENST00000458785.1_RNA|WEE1_ENST00000299613.6_Missense_Mutation_p.E84A	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	298					blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TATACAACAGAATTTCATGAG	0.333																																						ENST00000299613.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23						c.(250-252)gAa>gCa		WEE1 G2 checkpoint kinase							100	106	104					11																	9598080		2201	4294	6495	SO:0001583	missense	7465				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	g.chr11:9598080A>C	X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"wee1+ (S. pombe) homolog", "WEE1 homolog (S. pombe)"			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.893A>C	11.37:g.9598080A>C	ENSP00000402084:p.Glu298Ala		Somatic				WEE1_ENST00000450114.2_Missense_Mutation_p.E298A	p.E84A	NM_001143976.1	NP_001137448.1	WXS	Illumina GAIIx	Phase_I	P30291	WEE1_HUMAN		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	4	1006	+			298					B3KVE1|D3DQV0	Missense_Mutation	SNP	ENST00000450114.2	37	c.251A>C	CCDS7800.1	.	.	.	.	.	.	.	.	.	.	A	31	5.088438	0.94100	.	.	ENSG00000166483	ENST00000450114;ENST00000299613	T;T	0.40476	1.03;1.03	5.64	5.64	0.86602	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68384	0.2995	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.71928	-0.4444	10	0.46703	T	0.11	-16.8655	15.8496	0.78916	1.0:0.0:0.0:0.0	.	106;298	Q6MZL0;P30291	.;WEE1_HUMAN	A	298;84	ENSP00000402084:E298A;ENSP00000299613:E84A	ENSP00000299613:E84A	E	+	2	0	WEE1	9554656	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.910000	0.92685	2.141000	0.66446	0.477000	0.44152	GAA		0.333	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		6	53	0	0	0	1	0	6	53					C	9598080	A	C	9598080	3	2	48	1	0	0	0	0	1	0	0	0	17359	246	9	4	907	4	WEE1	11	9598080	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	528536	9598080	125408436	2641	7109										
SBF2	81846	broad.mit.edu	37	chr11	9829665	9829665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagagagccactctttttcaAccaacatctggaagccttca	6	12	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:9829665A>G	ENST00000256190.8	-	32	4462	c.4325T>C	c.(4324-4326)gTt>gCt	p.V1442A	SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000534671.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1442	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				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)		CTCTTTTTCAACCAACATCTG	0.453																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(4324-4326)gTt>gCt		SET binding factor 2							80	70	73					11																	9829665		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9829665A>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.4325T>C	11.37:g.9829665A>G	ENSP00000256190:p.Val1442Ala		Somatic				SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000534671.1_RNA	p.V1442A	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)	32	4462	-			1442			Myotubularin phosphatase.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.4325T>C	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.233889	0.79688	.	.	ENSG00000133812	ENST00000256190	D	0.92199	-2.99	5.91	5.91	0.95273	Myotubularin phosphatase domain (1);	0.251338	0.42294	D	0.000725	D	0.96334	0.8804	M	0.92412	3.305	0.53688	D	0.999976	D	0.53619	0.961	P	0.56343	0.796	D	0.97114	0.9806	10	0.87932	D	0	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	1442	Q86WG5	MTMRD_HUMAN	A	1442	ENSP00000256190:V1442A	ENSP00000256190:V1442A	V	-	2	0	SBF2	9786241	1.000000	0.71417	0.898000	0.35279	0.960000	0.62799	9.339000	0.96797	2.254000	0.74563	0.533000	0.62120	GTT		0.453	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		9	20	0	0	0	1	0	9	20					G	9829665	A	G	9829665	3	3	48	1	0	0	0	0	1	0	0	0	13874	43	2	4	1260	4	SBF2	11	9829665	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	231585	9829665	125176851	2642	7110										
AMPD3	272	broad.mit.edu	37	chr11	10521689	10521689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacagcgaccacatgttttcCgacaagagcccaaacccgga	8	15	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:10521689C>T	ENST00000396554.3	+	11	1982	c.1641C>T	c.(1639-1641)tcC>tcT	p.S547S	AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000444303.2_Silent_p.S379S	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	538					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		ACATGTTTTCCGACAAGAGCC	0.567																																						ENST00000444303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(1135-1137)tcC>tcT		adenosine monophosphate deaminase 3							252	193	213					11																	10521689		2201	4294	6495	SO:0001819	synonymous_variant	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10521689C>T	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1641C>T	11.37:g.10521689C>T			Somatic				AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000396554.3_Silent_p.S547S	p.S379S	NM_001172431.1	NP_001165902.1	WXS	Illumina GAIIx	Phase_I	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	10	1609	+			538					A0AUX0|B7Z2S2|B7Z763|B7Z877	Silent	SNP	ENST00000396554.3	37	c.1137C>T	CCDS7802.1																																																																																				0.567	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		29	70	0	0	0	1	0	29	70					T	10521689	C	T	10521689	2	4	48	1	0	0	0	0	0	0	0	1	587	639	23	1		1	AMPD3	11	10521689	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	692024	10521689	124484827	2643	7111										
MRVI1	10335	broad.mit.edu	37	chr11	10653561	10653561	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagatgtcagggaggcagtgGacaccttcaagtgtcggtga	15	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:10653561G>A	ENST00000436272.1	-	3	428	c.350C>T	c.(349-351)tCc>tTc	p.S117F	MRVI1_ENST00000552103.1_Missense_Mutation_p.S35F|MRVI1_ENST00000421747.1_Missense_Mutation_p.S117F|MRVI1_ENST00000531107.1_Missense_Mutation_p.S117F|MRVI1_ENST00000547195.1_Missense_Mutation_p.S35F|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000541483.1_Missense_Mutation_p.S126F|MRVI1_ENST00000527509.2_Missense_Mutation_p.S35F|MRVI1_ENST00000423302.2_Missense_Mutation_p.S126F|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000424001.1_5'UTR			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	117					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)		GGAGGCAGTGGACACCTTCAA	0.493																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(103-105)tCc>tTc		murine retrovirus integration site 1 homolog							87	92	90					11																	10653561		2086	4203	6289	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10653561G>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.350C>T	11.37:g.10653561G>A	ENSP00000412229:p.Ser117Phe		Somatic				MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000436272.1_Missense_Mutation_p.S117F|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000552103.1_Missense_Mutation_p.S35F|MRVI1_ENST00000421747.1_Missense_Mutation_p.S117F|MRVI1_ENST00000527509.2_Missense_Mutation_p.S35F|MRVI1_ENST00000541483.1_Missense_Mutation_p.S126F|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.S117F|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.S126F|MRVI1_ENST00000558540.1_5'UTR	p.S35F	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)	3	604	-			117					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.104C>T		.	.	.	.	.	.	.	.	.	.	G	17.12	3.307591	0.60305	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T	0.22539	2.75;2.7;1.95;1.96;2.58;2.12;2.75;1.95	4.72	4.72	0.59763	.	0.071327	0.64402	D	0.000020	T	0.35970	0.0950	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	D;D;D;D	0.73380	0.931;0.956;0.956;0.98	T	0.10405	-1.0631	10	0.87932	D	0	-11.9907	14.7383	0.69434	0.0:0.0:1.0:0.0	.	126;117;117;117	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	F	117;118;117;35;35;126;126;117;35	ENSP00000414598:S117F;ENSP00000412229:S117F;ENSP00000448278:S35F;ENSP00000446764:S35F;ENSP00000412130:S126F;ENSP00000437784:S126F;ENSP00000432436:S117F;ENSP00000432067:S35F	ENSP00000307885:S118F	S	-	2	0	MRVI1	10610137	1.000000	0.71417	0.995000	0.50966	0.471000	0.32888	4.896000	0.63222	2.446000	0.82766	0.561000	0.74099	TCC		0.493	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		14	32	0	0	0	1	0	14	32					A	10653561	G	A	10653561	3	1	48	1	0	0	0	0	1	0	0	0	9862	1174	41	3	2433	3	MRVI1	11	10653561	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	131872	10653561	124352955	2644	7112										
CTR9	9646	broad.mit.edu	37	chr11	10785209	10785209	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaagattatgaccaagcttTtcagtactattatcaagcca	7	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:10785209T>C	ENST00000361367.2	+	9	1403	c.977T>C	c.(976-978)tTt>tCt	p.F326S		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	326					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GACCAAGCTTTTCAGTACTAT	0.313																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(976-978)tTt>tCt		CTR9, Paf1/RNA polymerase II complex component							95	98	97					11																	10785209		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10785209T>C	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.977T>C	11.37:g.10785209T>C	ENSP00000355013:p.Phe326Ser		Somatic					p.F326S	NM_014633.3	NP_055448.1	WXS	Illumina GAIIx	Phase_I	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	9	1403	+			326					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.977T>C	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810107	0.70797	.	.	ENSG00000198730	ENST00000361367;ENST00000524523	T;T	0.62639	0.29;0.01	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	M	0.70595	2.14	0.80722	D	1	D	0.64830	0.994	P	0.62885	0.908	T	0.71971	-0.4431	10	0.21540	T	0.41	-17.3521	16.1657	0.81754	0.0:0.0:0.0:1.0	.	326	Q6PD62	CTR9_HUMAN	S	326;277	ENSP00000355013:F326S;ENSP00000431458:F277S	ENSP00000355013:F326S	F	+	2	0	CTR9	10741785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.886000	0.87288	2.276000	0.75962	0.528000	0.53228	TTT		0.313	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		14	29	0	0	0	1	0	14	29					C	10785209	T	C	10785209	3	2	48	1	0	0	0	0	1	0	0	0	4026	1841	64	4	1011	4	CTR9	11	10785209	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	131648	10785209	124221307	2645	7113										
USP47	55031	broad.mit.edu	37	chr11	11941759	11941759	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggatggcccaaatcagtaTttttgtgaacgttgtaagaa	10	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:11941759T>G	ENST00000399455.2	+	10	1206	c.1086T>G	c.(1084-1086)taT>taG	p.Y362*	USP47_ENST00000339865.5_Nonsense_Mutation_p.Y274*|USP47_ENST00000527733.1_Nonsense_Mutation_p.Y342*|USP47_ENST00000539466.1_De_novo_Start_OutOfFrame	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	362	USP.				base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CAAATCAGTATTTTTGTGAAC	0.313																																						ENST00000339865.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(820-822)taT>taG		ubiquitin specific peptidase 47							122	111	115					11																	11941759		1833	4065	5898	SO:0001587	stop_gained	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11941759T>G	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.1086T>G	11.37:g.11941759T>G	ENSP00000382382:p.Tyr362*		Somatic				USP47_ENST00000399455.2_Nonsense_Mutation_p.Y362*|USP47_ENST00000527733.1_Nonsense_Mutation_p.Y342*|USP47_ENST00000539466.1_De_novo_Start_OutOfFrame	p.Y274*	NM_017944.3	NP_060414.3	WXS	Illumina GAIIx	Phase_I	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	8	1585	+			362					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Nonsense_Mutation	SNP	ENST00000399455.2	37	c.822T>G		.	.	.	.	.	.	.	.	.	.	T	29.5	5.015345	0.93404	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455;ENST00000535588	.	.	.	5.38	-5.52	0.02560	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.189	0.81972	0.0:0.5915:0.0:0.4085	.	.	.	.	X	274;342;362;362	.	ENSP00000339957:Y274X	Y	+	3	2	USP47	11898335	0.601000	0.26907	0.607000	0.28956	0.927000	0.56198	-0.184000	0.09698	-0.869000	0.04052	-0.400000	0.06385	TAT		0.313	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		4	70	0	0	0	1	0	4	70					G	11941759	T	G	11941759	4	3	48	1	0	0	0	0	0	1	0	0	17093	1500	52	4	852	4	USP47	11	11941759	Nonsense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1156550	11941759	123064757	2646	7114										
USP47	55031	broad.mit.edu	37	chr11	11970032	11970032	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttaacttatagattacaaTtagactggggagagcactta	8	5	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:11970032T>G	ENST00000399455.2	+	23	3455	c.3335T>G	c.(3334-3336)aTt>aGt	p.I1112S	USP47_ENST00000339865.5_Missense_Mutation_p.I1024S|USP47_ENST00000527733.1_Missense_Mutation_p.I1092S|USP47_ENST00000539466.1_De_novo_Start_InFrame	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1112					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TAGATTACAATTAGACTGGGG	0.308																																						ENST00000339865.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(3070-3072)aTt>aGt		ubiquitin specific peptidase 47							49	49	49					11																	11970032		1799	4051	5850	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11970032T>G	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3335T>G	11.37:g.11970032T>G	ENSP00000382382:p.Ile1112Ser		Somatic				USP47_ENST00000399455.2_Missense_Mutation_p.I1112S|USP47_ENST00000527733.1_Missense_Mutation_p.I1092S|USP47_ENST00000539466.1_De_novo_Start_InFrame	p.I1024S	NM_017944.3	NP_060414.3	WXS	Illumina GAIIx	Phase_I	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	21	3834	+			1112					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.3071T>G		.	.	.	.	.	.	.	.	.	.	T	25.2	4.615027	0.87359	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	D;D;D	0.94828	-3.53;-3.53;-3.53	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	L	0.61218	1.895	0.80722	D	1	P;D	0.53462	0.932;0.96	P;D	0.64237	0.84;0.923	D	0.96771	0.9568	10	0.87932	D	0	.	15.1538	0.72723	0.0:0.0:0.0:1.0	.	1092;1024	E9PM46;Q96K76-2	.;.	S	1024;1092;1112	ENSP00000339957:I1024S;ENSP00000433146:I1092S;ENSP00000382382:I1112S	ENSP00000339957:I1024S	I	+	2	0	USP47	11926608	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.295000	0.72744	2.055000	0.61198	0.482000	0.46254	ATT		0.308	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		9	28	0	0	0	1	0	9	28					G	11970032	T	G	11970032	3	3	48	1	0	0	0	0	1	0	0	0	17093	1493	52	4	3153	4	USP47	11	11970032	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	28273	11970032	123036484	2647	7115										
MICAL2	9645	broad.mit.edu	37	chr11	12243276	12243276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgaagagctggaaccaggGcacccctcccctggagctgc	14	14	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:12243276G>A	ENST00000256194.4	+	10	1580	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D	MICAL2_ENST00000342902.5_Missense_Mutation_p.G431D|MICAL2_ENST00000379612.3_Missense_Mutation_p.G431D|MICAL2_ENST00000527546.1_Missense_Mutation_p.G431D|MICAL2_ENST00000537344.1_Missense_Mutation_p.G431D	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	431	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGGAACCAGGGCACCCCTCCC	0.602																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(1291-1293)gGc>gAc		microtubule associated monooxygenase, calponin and LIM domain containing 2							88	80	83					11																	12243276		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12243276G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1292G>A	11.37:g.12243276G>A	ENSP00000256194:p.Gly431Asp		Somatic				MICAL2_ENST00000527546.1_Missense_Mutation_p.G431D|MICAL2_ENST00000379612.3_Missense_Mutation_p.G431D|MICAL2_ENST00000342902.5_Missense_Mutation_p.G431D|MICAL2_ENST00000537344.1_Missense_Mutation_p.G431D	p.G431D	NM_014632.2	NP_055447.1	WXS	Illumina GAIIx	Phase_I	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	10	1580	+			431					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.1292G>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045816	0.75846	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	4.93	4.93	0.64822	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.78110	0.4232	M	0.67953	2.075	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	0.91635	0.999;0.999;0.986;0.999;0.996	T	0.79391	-0.1823	10	0.56958	D	0.05	.	17.9297	0.88993	0.0:0.0:1.0:0.0	.	431;431;431;431;431	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	D	431	ENSP00000441689:G431D;ENSP00000256194:G431D;ENSP00000433965:G431D;ENSP00000344894:G431D;ENSP00000368932:G431D	ENSP00000256194:G431D	G	+	2	0	MICAL2	12199852	1.000000	0.71417	0.955000	0.39395	0.451000	0.32288	5.475000	0.66787	2.555000	0.86185	0.655000	0.94253	GGC		0.602	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		7	87	0	0	0	1	0	7	87					A	12243276	G	A	12243276	3	1	48	1	0	0	0	0	1	0	0	0	9579	1203	42	3	1322	3	MICAL2	11	12243276	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	273244	12243276	122763240	2648	7116										
FAR1	84188	broad.mit.edu	37	chr11	13733490	13733490	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaaggcagggaaaggaattCttcgaacaatacgtgcctcc	10	10	1	0	rs150190417		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:13733490C>A	ENST00000354817.3	+	7	928	c.784C>A	c.(784-786)Ctt>Att	p.L262I	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	262					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)	p.L262F(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GAAAGGAATTCTTCGAACAAT	0.368																																						ENST00000354817.3																			1	Substitution - Missense(1)	p.L262F(1)	skin(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(784-786)Ctt>Att		fatty acyl CoA reductase 1							94	86	89					11																	13733490		2199	4293	6492	SO:0001583	missense	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13733490C>A	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	26222	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 10E, member 1"		"male sterility domain containing 2"	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.784C>A	11.37:g.13733490C>A	ENSP00000346874:p.Leu262Ile		Somatic				FAR1_ENST00000527202.1_3'UTR	p.L262I	NM_032228.5	NP_115604.1	WXS	Illumina GAIIx	Phase_I	Q8WVX9	FACR1_HUMAN			7	928	+			262					D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	c.784C>A	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340727	0.81911	.	.	ENSG00000197601	ENST00000354817;ENST00000532701;ENST00000355107	T;T	0.47177	0.85;0.85	5.51	5.51	0.81932	NAD(P)-binding domain (1);Male sterility, NAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.58892	0.2154	L	0.49513	1.565	0.80722	D	1	D;D	0.59767	0.986;0.983	P;P	0.59012	0.85;0.764	T	0.49835	-0.8897	10	0.18276	T	0.48	-9.6833	18.9895	0.92786	0.0:1.0:0.0:0.0	.	262;262	E7ETC1;Q8WVX9	.;FACR1_HUMAN	I	262	ENSP00000346874:L262I;ENSP00000437111:L262I	ENSP00000346874:L262I	L	+	1	0	FAR1	13690066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.079000	0.71291	2.574000	0.86865	0.591000	0.81541	CTT		0.368	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		10	30	1	0	1.33987e-11	1	1.67053e-11	10	30					A	13733490	C	A	13733490	3	1	48	1	0	0	0	0	1	0	0	0	5682	913	32	2	806	2	FAR1	11	13733490	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1490214	13733490	121273026	2649	7117										
FAR1	84188	broad.mit.edu	37	chr11	13736094	13736094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttcaagaggaatcctctcGaacaggccttcagacggccc	9	14	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:13736094G>A	ENST00000354817.3	+	9	1138	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	332					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GAATCCTCTCGAACAGGCCTT	0.378																																						ENST00000354817.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(994-996)Gaa>Aaa		fatty acyl CoA reductase 1							53	50	51					11																	13736094		2200	4294	6494	SO:0001583	missense	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13736094G>A	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	26222	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 10E, member 1"		"male sterility domain containing 2"	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.994G>A	11.37:g.13736094G>A	ENSP00000346874:p.Glu332Lys		Somatic				FAR1_ENST00000527202.1_3'UTR	p.E332K	NM_032228.5	NP_115604.1	WXS	Illumina GAIIx	Phase_I	Q8WVX9	FACR1_HUMAN			9	1138	+			332					D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	c.994G>A	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837803	0.50951	.	.	ENSG00000197601	ENST00000354817	T	0.22539	1.95	5.58	5.58	0.84498	.	0.096661	0.64402	D	0.000001	T	0.20700	0.0498	L	0.42245	1.32	0.80722	D	1	B	0.16396	0.017	B	0.13407	0.009	T	0.07616	-1.0763	10	0.12766	T	0.61	-4.3708	19.1641	0.93546	0.0:0.0:1.0:0.0	.	332	Q8WVX9	FACR1_HUMAN	K	332	ENSP00000346874:E332K	ENSP00000346874:E332K	E	+	1	0	FAR1	13692670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.637000	0.89404	0.585000	0.79938	GAA		0.378	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		6	26	0	0	0	1	0	6	26					A	13736094	G	A	13736094	3	1	48	1	0	0	0	0	1	0	0	0	5682	1059	37	1	1024	1	FAR1	11	13736094	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2604	13736094	121270422	2650	7118										
COPB1	1315	broad.mit.edu	37	chr11	14480092	14480092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttacctggctctttgcacGaattcttatatggccggtaa	9	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:14480092G>A	ENST00000249923.3	-	21	3088	c.2788C>T	c.(2788-2790)Cgt>Tgt	p.R930C	COPB1_ENST00000439561.2_Missense_Mutation_p.R930C	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	930					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						CTCTTTGCACGAATTCTTATA	0.413																																						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.(2788-2790)Cgt>Tgt		coatomer protein complex, subunit beta 1							74	76	75					11																	14480092		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.chr11:14480092G>A	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2788C>T	11.37:g.14480092G>A	ENSP00000249923:p.Arg930Cys		Somatic				COPB1_ENST00000439561.2_Missense_Mutation_p.R930C	p.R930C	NM_016451.4	NP_057535.1	WXS	Illumina GAIIx	Phase_I	P53618	COPB_HUMAN			21	3088	-			930					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.2788C>T	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272042	0.80469	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.71461	-0.57;-0.57	5.63	5.63	0.86233	Coatomer, beta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89605	0.6763	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92196	0.5764	10	0.87932	D	0	.	19.6846	0.95976	0.0:0.0:1.0:0.0	.	930	P53618	COPB_HUMAN	C	930	ENSP00000249923:R930C;ENSP00000397873:R930C	ENSP00000249923:R930C	R	-	1	0	COPB1	14436668	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.855000	0.69510	2.644000	0.89710	0.655000	0.94253	CGT		0.413	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		37	55	0	0	0	1	0	37	55					A	14480092	G	A	14480092	3	1	48	1	0	0	0	0	1	0	0	0	3730	1058	37	1	81	1	COPB1	11	14480092	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	743998	14480092	120526424	2651	7119										
PDE3B	5140	broad.mit.edu	37	chr11	14666087	14666087	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcggctcctggtggctgctgGcgctgcccgcctgctgttac	15	15	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:14666087G>T	ENST00000282096.4	+	1	819	c.466G>T	c.(466-468)Gcg>Tcg	p.A156S	PDE3B_ENST00000534317.1_3'UTR|PDE3B_ENST00000455098.2_Missense_Mutation_p.A156S|PSMA1_ENST00000418988.2_5'Flank	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	156					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)	GTGGCTGCTGGCGCTGCCCGC	0.701																																						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.(466-468)Gcg>Tcg		phosphodiesterase 3B, cGMP-inhibited							15	16	16					11																	14666087		2189	4283	6472	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.chr11:14666087G>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.466G>T	11.37:g.14666087G>T	ENSP00000282096:p.Ala156Ser		Somatic				PDE3B_ENST00000534317.1_3'UTR|PDE3B_ENST00000455098.2_Missense_Mutation_p.A156S	p.A156S	NM_000922.3	NP_000913.2	WXS	Illumina GAIIx	Phase_I	Q13370	PDE3B_HUMAN			1	819	+			156					B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.466G>T	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294982	0.40594	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.63096	0.05;-0.02	4.02	3.02	0.34903	.	21.326800	0.00166	N	0.000001	T	0.56485	0.1988	L	0.32530	0.975	0.36307	D	0.857413	P;P;P	0.38473	0.633;0.633;0.633	B;B;B	0.36186	0.108;0.108;0.219	T	0.54853	-0.8231	10	0.52906	T	0.07	.	11.9113	0.52741	0.0:0.0:0.8251:0.1749	.	156;156;156	B7ZM37;Q13370;A7E2E5	.;PDE3B_HUMAN;.	S	156	ENSP00000282096:A156S;ENSP00000388644:A156S	ENSP00000282096:A156S	A	+	1	0	PDE3B	14622663	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	2.852000	0.48310	1.787000	0.52448	0.462000	0.41574	GCG		0.701	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		9	19	1	0	3.09899e-07	1	3.54467e-07	9	19					T	14666087	G	T	14666087	3	4	48	1	0	0	0	0	1	0	0	0	11647	1203	42	5	468	5	PDE3B	11	14666087	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	185995	14666087	120340429	2652	7120										
PIK3C2A	5286	broad.mit.edu	37	chr11	17141460	17141460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taatattttaggaagacaatTtgggtgtttgaagcaataat	9	2	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:17141460T>C	ENST00000265970.7	-	15	2718	c.2719A>G	c.(2719-2721)Aat>Gat	p.N907D	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.N527D	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	907	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				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						GGAAGACAATTTGGGTGTTTG	0.353																																						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.(2719-2721)Aat>Gat		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						101	104	103					11																	17141460		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17141460T>C	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.2719A>G	11.37:g.17141460T>C	ENSP00000265970:p.Asn907Asp		Somatic				PIK3C2A_ENST00000540361.1_Missense_Mutation_p.N527D|PIK3C2A_ENST00000531428.1_Intron	p.N907D	NM_002645.2	NP_002636.2	WXS	Illumina GAIIx	Phase_I	O00443	P3C2A_HUMAN			15	2718	-			907					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.2719A>G	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.875952	0.51695	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.62941	-0.01;-0.01	5.28	4.14	0.48551	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.220871	0.45361	D	0.000364	T	0.52741	0.1753	L	0.35644	1.08	0.48236	D	0.999611	P	0.43231	0.801	B	0.43990	0.438	T	0.41288	-0.9517	10	0.19590	T	0.45	-14.0746	10.9425	0.47281	0.0:0.0741:0.0:0.9259	.	907	O00443	P3C2A_HUMAN	D	907;527	ENSP00000265970:N907D;ENSP00000438687:N527D	ENSP00000265970:N907D	N	-	1	0	PIK3C2A	17098036	1.000000	0.71417	0.999000	0.59377	0.594000	0.36715	2.493000	0.45320	0.844000	0.35094	0.477000	0.44152	AAT		0.353	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		22	40	0	0	0	1	0	22	40					C	17141460	T	C	17141460	3	2	48	1	0	0	0	0	1	0	0	0	11918	1841	64	4	2413	4	PIK3C2A	11	17141460	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2475373	17141460	117865056	2653	7121										
ABCC8	6833	broad.mit.edu	37	chr11	17428261	17428261	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccacagtgacagacgtgacGaggcacagcacaatgcccag	11	13	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:17428261G>A	ENST00000389817.3	-	26	3305	c.3237C>T	c.(3235-3237)ctC>ctT	p.L1079L	ABCC8_ENST00000302539.4_Silent_p.L1080L			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1079	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)	CAGACGTGACGAGGCACAGCA	0.587																																						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.(3238-3240)ctC>ctT		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						156	126	136					11																	17428261		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17428261G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3237C>T	11.37:g.17428261G>A			Somatic				ABCC8_ENST00000389817.3_Silent_p.L1079L	p.L1080L	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	3365	-			1079			ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.3240C>T	CCDS31437.1																																																																																				0.587	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		10	102	0	0	0	1	0	10	102					A	17428261	G	A	17428261	2	1	48	1	0	0	0	0	0	0	0	1	58	1045	37	1		1	ABCC8	11	17428261	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	286801	17428261	117578255	2654	7122										
ABCC8	6833	broad.mit.edu	37	chr11	17448598	17448598	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaggatacatgtattacctGctccagaagacagcccctga	9	11	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:17448598G>A	ENST00000389817.3	-	16	2288	c.2220C>T	c.(2218-2220)agC>agT	p.S740S	ABCC8_ENST00000302539.4_Silent_p.S740S			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	740	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TGTATTACCTGCTCCAGAAGA	0.557																																						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.(2218-2220)agC>agT		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						74	68	70					11																	17448598		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17448598G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2220C>T	11.37:g.17448598G>A			Somatic				ABCC8_ENST00000389817.3_Silent_p.S740S	p.S740S	NM_000352.3	NP_000343.2	WXS	Illumina GAIIx	Phase_I	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	16	2345	-			740			ABC transporter 1.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.2220C>T	CCDS31437.1																																																																																				0.557	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		15	25	0	0	0	1	0	15	25					A	17448598	G	A	17448598	2	1	48	1	0	0	0	0	0	0	0	1	58	1310	46	3		3	ABCC8	11	17448598	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	20337	17448598	117557918	2655	7123										
TPH1	7166	broad.mit.edu	37	chr11	18057674	18057674	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgggactcgatatgtaacaGattcacatgcttctcctgtg	9	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:18057674G>A	ENST00000250018.2	-	2	695	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	TPH1_ENST00000341556.2_Silent_p.L45L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	45	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)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ATATGTAACAGATTCACATGC	0.338																																						ENST00000250018.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25						c.(133-135)Ctg>Ttg		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						100	95	96					11																	18057674		2200	4293	6493	SO:0001819	synonymous_variant	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.chr11:18057674G>A	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.133C>T	11.37:g.18057674G>A			Somatic				TPH1_ENST00000341556.2_Silent_p.L45L	p.L45L	NM_004179.2	NP_004170.1	WXS	Illumina GAIIx	Phase_I	P17752	TPH1_HUMAN			2	695	-			45			ACT.		D3DQX6|O95188|O95189|Q16736|Q3KPG8	Silent	SNP	ENST00000250018.2	37	c.133C>T	CCDS7829.1																																																																																				0.338	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		7	10	0	0	0	1	0	7	10					A	18057674	G	A	18057674	2	1	48	1	0	0	0	0	0	0	0	1	16416	933	33	3		3	TPH1	11	18057674	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	609076	18057674	116948842	2656	7124										
TSG101	7251	broad.mit.edu	37	chr11	18524068	18524068	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaggctgagaagggtactgaGaacttgttgtggcaggatat	16	4	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:18524068G>T	ENST00000251968.3	-	7	1020	c.605C>A	c.(604-606)tCt>tAt	p.S202Y	TSG101_ENST00000357193.3_Missense_Mutation_p.S97Y|TSG101_ENST00000536719.1_Missense_Mutation_p.S202Y|TSG101_ENST00000543087.1_5'UTR	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	202					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						AGGGTACTGAGAACTTGTTGT	0.433																																					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.(604-606)tCt>tAt		tumor susceptibility 101							101	91	95					11																	18524068		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18524068G>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.605C>A	11.37:g.18524068G>T	ENSP00000251968:p.Ser202Tyr		Somatic				TSG101_ENST00000251968.3_Missense_Mutation_p.S202Y|TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000357193.3_Missense_Mutation_p.S97Y	p.S202Y			WXS	Illumina GAIIx	Phase_I	Q99816	TS101_HUMAN			7	739	-			202					Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.605C>A	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322158	0.60634	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.43688	0.94;0.94;0.94	5.74	5.74	0.90152	.	2.119240	0.02416	N	0.082093	T	0.48642	0.1511	L	0.56769	1.78	0.37436	D	0.914246	B	0.23540	0.087	B	0.23852	0.049	T	0.36212	-0.9757	10	0.59425	D	0.04	-19.8974	12.3836	0.55322	0.0798:0.0:0.9202:0.0	.	202	Q99816	TS101_HUMAN	Y	202;202;97	ENSP00000438471:S202Y;ENSP00000251968:S202Y;ENSP00000349721:S97Y	ENSP00000251968:S202Y	S	-	2	0	TSG101	18480644	0.998000	0.40836	0.994000	0.49952	0.969000	0.65631	2.619000	0.46401	2.715000	0.92844	0.491000	0.48974	TCT		0.433	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		10	18	1	0	1.49906e-05	1	1.64923e-05	10	18					T	18524068	G	T	18524068	3	4	48	1	0	0	0	0	1	0	0	0	16631	942	33	2	583	2	TSG101	11	18524068	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	466394	18524068	116482448	2657	7125										
ZDHHC13	54503	broad.mit.edu	37	chr11	19185898	19185898	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggacttcagaacattttgTacatcatgtcttgtgagttt	8	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:19185898T>C	ENST00000446113.2	+	12	1405	c.1284T>C	c.(1282-1284)tgT>tgC	p.C428C	ZDHHC13_ENST00000399351.3_Silent_p.C298C	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	428					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|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)|membrane (GO:0016020)	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)			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GAACATTTTGTACATCATGTC	0.348																																						ENST00000446113.2																			0				NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1282-1284)tgT>tgC		zinc finger, DHHC-type containing 13							154	140	145					11																	19185898		1852	4085	5937	SO:0001819	synonymous_variant	54503				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding	g.chr11:19185898T>C	AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.1284T>C	11.37:g.19185898T>C			Somatic				ZDHHC13_ENST00000399351.3_Silent_p.C298C	p.C428C	NM_019028.2	NP_061901.2	WXS	Illumina GAIIx	Phase_I	Q8IUH4	ZDH13_HUMAN			12	1405	+			428					Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Silent	SNP	ENST00000446113.2	37	c.1284T>C	CCDS44550.1																																																																																				0.348	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1	NM_019028		4	13	0	0	0	1	0	4	13					C	19185898	T	C	19185898	2	2	48	1	0	0	0	0	0	0	0	1	17618	1644	57	4		4	ZDHHC13	11	19185898	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	661830	19185898	115820618	2658	7126										
E2F8	79733	broad.mit.edu	37	chr11	19247366	19247366	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatggactctgcccccagggAtgagcactgcgtgagaggga	15	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:19247366A>G	ENST00000527884.1	-	11	2171	c.1939T>C	c.(1939-1941)Tcc>Ccc	p.S647P	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000529188.1_5'UTR|E2F8_ENST00000250024.4_Missense_Mutation_p.S647P	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	647					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						GCCCCCAGGGATGAGCACTGC	0.453																																						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.(1939-1941)Tcc>Ccc		E2F transcription factor 8							177	185	182					11																	19247366		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19247366A>G		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.1939T>C	11.37:g.19247366A>G	ENSP00000434199:p.Ser647Pro		Somatic				E2F8_ENST00000250024.4_Missense_Mutation_p.S647P|RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000529188.1_5'UTR	p.S647P	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	WXS	Illumina GAIIx	Phase_I	A0AVK6	E2F8_HUMAN			11	2171	-			647					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.1939T>C	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.569961	0.28003	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.24908	1.83;1.83	5.8	-2.88	0.05682	.	0.532223	0.20977	N	0.082291	T	0.18635	0.0447	M	0.63428	1.95	0.24382	N	0.994783	B	0.23735	0.09	B	0.28638	0.092	T	0.19943	-1.0290	10	0.35671	T	0.21	-2.9551	1.1474	0.01778	0.2791:0.3449:0.1377:0.2383	.	647	A0AVK6	E2F8_HUMAN	P	647	ENSP00000434199:S647P;ENSP00000250024:S647P	ENSP00000250024:S647P	S	-	1	0	E2F8	19203942	0.957000	0.32711	0.916000	0.36221	0.974000	0.67602	0.889000	0.28282	-0.830000	0.04262	-0.438000	0.05819	TCC		0.453	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		77	149	0	0	0	1	0	77	149					G	19247366	A	G	19247366	3	3	48	1	0	0	0	0	1	0	0	0	4875	333	12	4	676	4	E2F8	11	19247366	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	61468	19247366	115759150	2659	7127										
E2F8	79733	broad.mit.edu	37	chr11	19251847	19251847	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agctgagccattttacttggGaagggtgcagaattctgaga	13	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:19251847G>A	ENST00000527884.1	-	9	1531	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.F433F	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	433					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						TTTTACTTGGGAAGGGTGCAG	0.403																																						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.(1297-1299)ttC>ttT		E2F transcription factor 8							95	92	93					11																	19251847		2199	4293	6492	SO:0001819	synonymous_variant	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19251847G>A		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.1299C>T	11.37:g.19251847G>A			Somatic				E2F8_ENST00000250024.4_Silent_p.F433F|RP11-428C19.4_ENST00000527978.1_RNA	p.F433F	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	WXS	Illumina GAIIx	Phase_I	A0AVK6	E2F8_HUMAN			9	1531	-			433					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Silent	SNP	ENST00000527884.1	37	c.1299C>T	CCDS7849.1																																																																																				0.403	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		17	52	0	0	0	1	0	17	52					A	19251847	G	A	19251847	2	1	48	1	0	0	0	0	0	0	0	1	4875	1165	41	3		3	E2F8	11	19251847	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4481	19251847	115754669	2660	7128										
NAV2	89797	broad.mit.edu	37	chr11	20101616	20101616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccttggtctccaggaaacgGcactgcccagtctgcagacc	11	15	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:20101616G>A	ENST00000396087.3	+	27	5453	c.5354G>A	c.(5353-5355)gGc>gAc	p.G1785D	NAV2_ENST00000311043.8_Missense_Mutation_p.G793D|NAV2_ENST00000533917.1_Missense_Mutation_p.G793D|NAV2_ENST00000527559.2_Missense_Mutation_p.G1714D|NAV2_ENST00000360655.4_Missense_Mutation_p.G1665D|NAV2_ENST00000540292.1_Missense_Mutation_p.G1716D|NAV2_ENST00000396085.1_Missense_Mutation_p.G1729D|NAV2_ENST00000349880.4_Missense_Mutation_p.G1729D	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1785					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						CCAGGAAACGGCACTGCCCAG	0.577																																						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.(5185-5187)gGc>gAc		neuron navigator 2							46	44	45					11																	20101616		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20101616G>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.5354G>A	11.37:g.20101616G>A	ENSP00000379396:p.Gly1785Asp		Somatic				NAV2_ENST00000533917.1_Missense_Mutation_p.G793D|NAV2_ENST00000360655.4_Missense_Mutation_p.G1665D|NAV2_ENST00000527559.2_Missense_Mutation_p.G1714D|NAV2_ENST00000396087.3_Missense_Mutation_p.G1785D|NAV2_ENST00000349880.4_Missense_Mutation_p.G1729D|NAV2_ENST00000311043.8_Missense_Mutation_p.G793D|NAV2_ENST00000540292.1_Missense_Mutation_p.G1716D	p.G1729D	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	Q8IVL1	NAV2_HUMAN			25	5547	+			1785					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.5186G>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875420	0.91664	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	D;D;D;D;D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24;-3.24	5.71	5.71	0.89125	.	0.095340	0.46145	D	0.000313	D	0.92750	0.7695	N	0.12182	0.205	0.80722	D	1	D;D;B;D;D;D	0.69078	0.986;0.96;0.277;0.996;0.992;0.997	P;P;B;P;P;D	0.65443	0.738;0.624;0.079;0.9;0.866;0.935	D	0.91889	0.5522	9	.	.	.	.	19.8535	0.96748	0.0:0.0:1.0:0.0	.	1729;1785;793;778;1729;1665	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	D	1665;1729;1729;1785;1714;1716;793;778;793;778	ENSP00000353871:G1665D;ENSP00000379394:G1729D;ENSP00000309577:G1729D;ENSP00000379396:G1785D;ENSP00000435395:G1714D;ENSP00000443489:G1716D;ENSP00000437316:G793D;ENSP00000437136:G778D;ENSP00000312169:G793D	.	G	+	2	0	NAV2	20058192	0.999000	0.42202	0.094000	0.20943	0.020000	0.10135	3.848000	0.55903	2.694000	0.91930	0.557000	0.71058	GGC		0.577	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		15	33	0	0	0	1	0	15	33					A	20101616	G	A	20101616	3	1	48	1	0	0	0	0	1	0	0	0	10193	1203	42	3	5393	3	NAV2	11	20101616	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	849769	20101616	114904900	2661	7129										
NAV2	89797	broad.mit.edu	37	chr11	20124900	20124900	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctggacaacctacaccacGtgagctctctgggagagatc	10	13	1	2	rs531275484	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:20124900G>T	ENST00000396087.3	+	36	6793	c.6694G>T	c.(6694-6696)Gtg>Ttg	p.V2232L	NAV2_ENST00000311043.8_Missense_Mutation_p.V1237L|NAV2_ENST00000533917.1_Missense_Mutation_p.V1237L|NAV2_ENST00000527559.2_Missense_Mutation_p.V2161L|NAV2_ENST00000360655.4_Missense_Mutation_p.V2109L|NAV2_ENST00000540292.1_Missense_Mutation_p.V2163L|NAV2_ENST00000396085.1_Missense_Mutation_p.V2176L|NAV2_ENST00000349880.4_Missense_Mutation_p.V2173L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2232					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						CCTACACCACGTGAGCTCTCT	0.542																																						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.(6526-6528)Gtg>Ttg		neuron navigator 2							175	142	153					11																	20124900		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20124900G>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.6694G>T	11.37:g.20124900G>T	ENSP00000379396:p.Val2232Leu		Somatic				NAV2_ENST00000533917.1_Missense_Mutation_p.V1237L|NAV2_ENST00000360655.4_Missense_Mutation_p.V2109L|NAV2_ENST00000527559.2_Missense_Mutation_p.V2161L|NAV2_ENST00000396087.3_Missense_Mutation_p.V2232L|NAV2_ENST00000349880.4_Missense_Mutation_p.V2173L|NAV2_ENST00000311043.8_Missense_Mutation_p.V1237L|NAV2_ENST00000540292.1_Missense_Mutation_p.V2163L	p.V2176L	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	Q8IVL1	NAV2_HUMAN			34	6887	+			2232					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.6526G>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441887	0.83993	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	D;D;D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000020	D	0.88108	0.6348	L	0.50333	1.59	0.80722	D	1	P;P;D;P	0.54601	0.945;0.912;0.967;0.929	P;B;P;P	0.54346	0.565;0.358;0.749;0.46	D	0.86619	0.1878	9	.	.	.	.	19.2099	0.93749	0.0:0.0:1.0:0.0	.	2176;1237;2173;2109	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	L	2109;2176;2173;2232;2161;2163;1237;1237	ENSP00000353871:V2109L;ENSP00000379394:V2176L;ENSP00000309577:V2173L;ENSP00000379396:V2232L;ENSP00000435395:V2161L;ENSP00000443489:V2163L;ENSP00000437316:V1237L;ENSP00000312169:V1237L	.	V	+	1	0	NAV2	20081476	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.890000	0.63178	2.631000	0.89168	0.655000	0.94253	GTG		0.542	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		31	62	1	0	2.20474e-14	1	2.87106e-14	31	62					T	20124900	G	T	20124900	3	4	48	1	0	0	0	0	1	0	0	0	10193	1145	40	5	6765	5	NAV2	11	20124900	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	23284	20124900	114881616	2662	7130										
PRMT3	10196	broad.mit.edu	37	chr11	20486022	20486022	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtagcatatagattgccataCgacgtctatctcagatttgg	9	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:20486022C>G	ENST00000331079.6	+	13	1494	c.1277C>G	c.(1276-1278)aCg>aGg	p.T426R	PRMT3_ENST00000437750.2_Missense_Mutation_p.T364R	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	426	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						GATTGCCATACGACGTCTATC	0.318																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(1276-1278)aCg>aGg		protein arginine methyltransferase 3							104	103	103					11																	20486022		2203	4300	6503	SO:0001583	missense	10196						zinc ion binding	g.chr11:20486022C>G	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.1277C>G	11.37:g.20486022C>G	ENSP00000331879:p.Thr426Arg		Somatic				PRMT3_ENST00000437750.2_Missense_Mutation_p.T364R	p.T426R	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	WXS	Illumina GAIIx	Phase_I	O60678	ANM3_HUMAN			13	1494	+			426					B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	c.1277C>G	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	C	3.896	-0.023096	0.07634	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	D;D	0.83591	-1.74;-1.74	5.98	3.05	0.35203	.	0.425315	0.29417	N	0.012205	T	0.81754	0.4889	M	0.83384	2.64	0.35217	D	0.775647	B;B	0.16166	0.016;0.001	B;B	0.21546	0.035;0.003	T	0.79347	-0.1841	10	0.66056	D	0.02	-3.5894	6.2229	0.20691	0.2684:0.5903:0.0:0.1413	.	364;426	O60678-2;O60678	.;ANM3_HUMAN	R	426;426;364	ENSP00000331879:T426R;ENSP00000397766:T364R	ENSP00000331879:T426R	T	+	2	0	PRMT3	20442598	0.992000	0.36948	0.364000	0.25888	0.113000	0.19764	1.365000	0.34182	0.390000	0.25115	-0.293000	0.09583	ACG		0.318	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		11	28	0	0	0	1	0	11	28					G	20486022	C	G	20486022	3	3	48	1	0	0	0	0	1	0	0	0	12550	536	19	5	1327	5	PRMT3	11	20486022	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	361122	20486022	114520494	2663	7131										
NELL1	4745	broad.mit.edu	37	chr11	20940848	20940848	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggtgcaaggaataatggatTtacaagagcttttggccaag	12	5	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:20940848T>C	ENST00000357134.5	+	7	879	c.727T>C	c.(727-729)Tta>Cta	p.L243L	NELL1_ENST00000298925.5_Silent_p.L271L|NELL1_ENST00000325319.5_Silent_p.L186L|NELL1_ENST00000532434.1_Silent_p.L243L	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	243					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						AATAATGGATTTACAAGAGCT	0.323																																						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.(811-813)Tta>Cta		NEL-like 1 (chicken)							121	119	120					11																	20940848		2203	4299	6502	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20940848T>C	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.727T>C	11.37:g.20940848T>C			Somatic				NELL1_ENST00000532434.1_Silent_p.L243L|NELL1_ENST00000357134.5_Silent_p.L243L|NELL1_ENST00000325319.5_Silent_p.L186L	p.L271L			WXS	Illumina GAIIx	Phase_I	Q92832	NELL1_HUMAN			8	964	+			243			VWFC 1.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.811T>C	CCDS7855.1																																																																																				0.323	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		12	41	0	0	0	1	0	12	41					C	20940848	T	C	20940848	2	2	48	1	0	0	0	0	0	0	0	1	10342	1838	64	4		4	NELL1	11	20940848	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	454826	20940848	114065668	2664	7132										
FANCF	2188	broad.mit.edu	37	chr11	22647060	22647060	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcatccccgagggcccggttCtccagcaggcgcagagagag	15	14	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:22647060C>A	ENST00000327470.3	-	1	327	c.297G>T	c.(295-297)gaG>gaT	p.E99D	AC103801.2_ENST00000428556.2_Missense_Mutation_p.L2I	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	99					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						GGGCCCGGTTCTCCAGCAGGC	0.662			"N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(295-297)gaG>gaT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group F							62	73	69					11																	22647060		2203	4300	6503	SO:0001583	missense	2188	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr11:22647060C>A		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.297G>T	11.37:g.22647060C>A	ENSP00000330875:p.Glu99Asp		Somatic	OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	757	AC103801.2_ENST00000428556.2_Missense_Mutation_p.L2I	p.E99D	NM_022725.3	NP_073562.1	WXS	Illumina GAIIx	Phase_I	Q9NPI8	FANCF_HUMAN			1	327	-			99					Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	c.297G>T	CCDS7857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.81|15.81	2.943022|2.943022	0.53079|0.53079	.|.	.|.	ENSG00000183161|ENSG00000229387	ENST00000327470|ENST00000428556	T|.	0.31510|.	1.49|.	5.43|5.43	3.51|3.51	0.40186|0.40186	.|.	0.741779|.	0.12950|.	U|.	0.425855|.	T|T	0.40247|0.40247	0.1109|0.1109	L|L	0.34521|0.34521	1.04|1.04	0.25789|0.25789	N|N	0.984638|0.984638	B|.	0.24768|.	0.111|.	B|.	0.26094|.	0.066|.	T|T	0.33163|0.33163	-0.9879|-0.9879	10|6	0.41790|0.87932	T|D	0.15|0	-0.1417|-0.1417	11.1465|11.1465	0.48434|0.48434	0.1436:0.7183:0.138:0.0|0.1436:0.7183:0.138:0.0	.|.	99|.	Q9NPI8|.	FANCF_HUMAN|.	D|I	99|2	ENSP00000330875:E99D|.	ENSP00000330875:E99D|ENSP00000404027:L2I	E|L	-|+	3|1	2|0	FANCF|AC103801.2	22603636|22603636	0.702000|0.702000	0.27816|0.27816	0.673000|0.673000	0.29887|0.29887	0.769000|0.769000	0.43574|0.43574	0.835000|0.835000	0.27531|0.27531	0.800000|0.800000	0.34041|0.34041	0.655000|0.655000	0.94253|0.94253	GAG|CTC		0.662	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		5	153	1	0	0.00116845	1	0.00122532	5	153					A	22647060	C	A	22647060	3	1	48	1	0	0	0	0	1	0	0	0	5675	912	32	2	831	2	FANCF	11	22647060	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1706212	22647060	112359456	2665	7133										
GAS2	2620	broad.mit.edu	37	chr11	22833502	22833502	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctccaactctaaaggacatGaatccagataactacttggt	6	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:22833502G>T	ENST00000454584.2	+	8	1187	c.882G>T	c.(880-882)atG>atT	p.M294I	GAS2_ENST00000433790.1_Missense_Mutation_p.M294I|GAS2_ENST00000278187.3_Missense_Mutation_p.M294I	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	294					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TAAAGGACATGAATCCAGATA	0.453																																						ENST00000454584.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						c.(880-882)atG>atT		growth arrest-specific 2							97	88	91					11																	22833502		2203	4300	6503	SO:0001583	missense	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22833502G>T	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.882G>T	11.37:g.22833502G>T	ENSP00000401145:p.Met294Ile		Somatic				GAS2_ENST00000278187.3_Missense_Mutation_p.M294I|GAS2_ENST00000433790.1_Missense_Mutation_p.M294I	p.M294I	NM_001143830.1	NP_001137302.1	WXS	Illumina GAIIx	Phase_I	O43903	GAS2_HUMAN			8	1187	+			294					B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	c.882G>T	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187727	0.38609	.	.	ENSG00000148935	ENST00000454584;ENST00000278187;ENST00000433790	T;T;T	0.39229	1.09;1.09;1.09	6.0	6.0	0.97389	.	0.182572	0.64402	D	0.000013	T	0.31389	0.0795	N	0.14661	0.345	0.50813	D	0.999891	B	0.02656	0.0	B	0.04013	0.001	T	0.04885	-1.0920	10	0.30078	T	0.28	-13.216	20.4949	0.99206	0.0:0.0:1.0:0.0	.	294	O43903	GAS2_HUMAN	I	294	ENSP00000401145:M294I;ENSP00000278187:M294I;ENSP00000396708:M294I	ENSP00000278187:M294I	M	+	3	0	GAS2	22790078	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.790000	0.55461	2.848000	0.98002	0.655000	0.94253	ATG		0.453	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		25	42	1	0	7.07758e-08	1	8.2413e-08	25	42					T	22833502	G	T	22833502	3	4	48	1	0	0	0	0	1	0	0	0	6253	1290	45	2	908	2	GAS2	11	22833502	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	186442	22833502	112173014	2666	7134										
LUZP2	338645	broad.mit.edu	37	chr11	25004777	25004777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taatcacatcaaatccaactCggatgttactcccacccagg	5	14	2	0	rs543569589		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:25004777C>T	ENST00000336930.6	+	9	769	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	LUZP2_ENST00000533227.1_Missense_Mutation_p.R149W			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	235						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						AAATCCAACTCGGATGTTACT	0.453													C|||	1	0.000199681	8e-04	0	5008	,	,		17911	0		0	False		,,,				2504	0					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.(445-447)Cgg>Tgg		leucine zipper protein 2							160	137	145					11																	25004777		2203	4300	6503	SO:0001583	missense	338645					extracellular region		g.chr11:25004777C>T	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.703C>T	11.37:g.25004777C>T	ENSP00000336817:p.Arg235Trp		Somatic				LUZP2_ENST00000336930.6_Missense_Mutation_p.R235W	p.R149W	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	WXS	Illumina GAIIx	Phase_I	Q86TE4	LUZP2_HUMAN			9	732	+			235					A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	c.445C>T	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442109	0.43326	.	.	ENSG00000187398	ENST00000336930;ENST00000533227	T;T	0.25414	1.8;1.8	5.42	4.44	0.53790	.	0.407977	0.24532	N	0.037713	T	0.14056	0.0340	N	0.08118	0	0.20703	N	0.999869	P;P	0.36712	0.566;0.566	B;B	0.36186	0.219;0.126	T	0.16482	-1.0401	10	0.66056	D	0.02	-0.8839	11.7249	0.51704	0.0:0.6913:0.3087:0.0	.	149;235	E9PN53;Q86TE4	.;LUZP2_HUMAN	W	235;149	ENSP00000336817:R235W;ENSP00000432952:R149W	ENSP00000336817:R235W	R	+	1	2	LUZP2	24961353	1.000000	0.71417	0.578000	0.28575	0.266000	0.26442	4.243000	0.58721	2.705000	0.92388	0.650000	0.86243	CGG		0.453	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		24	57	0	0	0	1	0	24	57					T	25004777	C	T	25004777	3	4	48	1	0	0	0	0	1	0	0	0	9096	875	31	1	737	1	LUZP2	11	25004777	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2171275	25004777	110001739	2667	7135										
ANO3	63982	broad.mit.edu	37	chr11	26655846	26655846	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acagttccatcttctatatcGctttctttttgggaaggtaa	7	8	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:26655846G>A	ENST00000256737.3	+	19	2821	c.1969G>A	c.(1969-1971)Gct>Act	p.A657T	ANO3_ENST00000525139.1_Missense_Mutation_p.A641T|ANO3_ENST00000531568.1_Missense_Mutation_p.A511T|ANO3_ENST00000537978.1_Missense_Mutation_p.A641T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	657					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						CTTCTATATCGCTTTCTTTTT	0.358																																						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.(1969-1971)Gct>Act		anoctamin 3							98	86	90					11																	26655846		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26655846G>A	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.1969G>A	11.37:g.26655846G>A	ENSP00000256737:p.Ala657Thr		Somatic				ANO3_ENST00000537978.1_Missense_Mutation_p.A641T|ANO3_ENST00000531568.1_Missense_Mutation_p.A511T|ANO3_ENST00000525139.1_Missense_Mutation_p.A641T	p.A657T	NM_031418.2	NP_113606.2	WXS	Illumina GAIIx	Phase_I	Q9BYT9	ANO3_HUMAN			19	2821	+			657					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1969G>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648846	0.87958	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.87313	0.6146	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88666	0.3192	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	559;657	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	T	641;641;657;559;511	ENSP00000440737:A641T;ENSP00000432576:A641T;ENSP00000256737:A657T;ENSP00000432394:A511T	ENSP00000256737:A657T	A	+	1	0	ANO3	26612422	1.000000	0.71417	0.999000	0.59377	0.369000	0.29798	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GCT		0.358	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		11	24	0	0	0	1	0	11	24					A	26655846	G	A	26655846	3	1	48	1	0	0	0	0	1	0	0	0	698	1087	38	1	2043	1	ANO3	11	26655846	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1651069	26655846	108350670	2668	7136										
BDNF	627	broad.mit.edu	37	chr11	27680092	27680092	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaagtatgaaataaccataGtaaggaaaaggatggtcatc	9	5	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:27680092G>A	ENST00000525528.1	-	1	1113	c.20C>T	c.(19-21)aCt>aTt	p.T7I	BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.T89I|BDNF_ENST00000525950.1_Missense_Mutation_p.T7I|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.T22I|BDNF_ENST00000533131.1_Missense_Mutation_p.T7I|BDNF_ENST00000395978.3_Missense_Mutation_p.T7I|BDNF_ENST00000356660.4_Missense_Mutation_p.T7I|BDNF_ENST00000314915.6_Missense_Mutation_p.T15I|BDNF_ENST00000439476.2_Missense_Mutation_p.T7I|BDNF_ENST00000420794.1_Missense_Mutation_p.T7I|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000418212.1_Missense_Mutation_p.T7I|BDNF_ENST00000532997.1_Missense_Mutation_p.T7I|BDNF_ENST00000530861.1_Missense_Mutation_p.T7I|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000395981.3_Missense_Mutation_p.T7I|BDNF_ENST00000395980.2_Missense_Mutation_p.T7I|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.T7I|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.T7I|BDNF-AS_ENST00000501176.2_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	7					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						AATAACCATAGTAAGGAAAAG	0.488																																						ENST00000525528.1																			0				breast(1)|large_intestine(3)|lung(2)	6						c.(19-21)aCt>aTt		brain-derived neurotrophic factor							85	94	91					11																	27680092		2202	4299	6501	SO:0001583	missense	627					extracellular region	growth factor activity	g.chr11:27680092G>A	AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"Endogenous ligands"	1033	protein-coding gene	gene with protein product	"neurotrophin"	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.20C>T	11.37:g.27680092G>A	ENSP00000437138:p.Thr7Ile		Somatic				BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.T7I|BDNF_ENST00000439476.2_Missense_Mutation_p.T7I|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.T7I|BDNF_ENST00000395981.3_Missense_Mutation_p.T7I|BDNF_ENST00000533131.1_Missense_Mutation_p.T7I|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000532997.1_Missense_Mutation_p.T7I|BDNF_ENST00000395980.2_Missense_Mutation_p.T7I|BDNF_ENST00000525950.1_Missense_Mutation_p.T7I|BDNF_ENST00000530861.1_Missense_Mutation_p.T7I|BDNF_ENST00000314915.6_Missense_Mutation_p.T15I|BDNF_ENST00000395986.2_Missense_Mutation_p.T22I|BDNF_ENST00000418212.1_Missense_Mutation_p.T7I|BDNF_ENST00000395978.3_Missense_Mutation_p.T7I|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000356660.4_Missense_Mutation_p.T7I|BDNF_ENST00000420794.1_Missense_Mutation_p.T7I|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.T89I	p.T7I	NM_170735.5	NP_733931.1	WXS	Illumina GAIIx	Phase_I	P23560	BDNF_HUMAN			1	1113	-			7					A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	ENST00000525528.1	37	c.20C>T	CCDS7866.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035487	0.54896	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794;ENST00000528035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D	0.89917	0.987;1.0;0.999;0.998;0.999	P;D;D;D;D	0.87578	0.854;0.998;0.991;0.981;0.991	T	0.45527	-0.9255	10	0.87932	D	0	-13.6392	20.8794	0.99867	0.0:0.0:1.0:0.0	.	36;89;15;7;22	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	I	7;7;22;7;7;7;7;7;7;89;7;7;7;7;7;15;7;7	ENSP00000389345:T7I;ENSP00000437138:T7I;ENSP00000379309:T22I;ENSP00000432727:T7I;ENSP00000349084:T7I;ENSP00000400502:T7I;ENSP00000432376:T7I;ENSP00000435564:T7I;ENSP00000379307:T7I;ENSP00000414303:T89I;ENSP00000379304:T7I;ENSP00000435805:T7I;ENSP00000379305:T7I;ENSP00000379302:T7I;ENSP00000432035:T7I;ENSP00000320002:T15I;ENSP00000389564:T7I	ENSP00000320002:T15I	T	-	2	0	BDNF	27636668	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	ACT		0.488	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735		43	81	0	0	0	1	0	43	81					A	27680092	G	A	27680092	3	1	48	1	0	0	0	0	1	0	0	0	1394	1029	36	3	727	3	BDNF	11	27680092	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1024246	27680092	107326424	2669	7137										
BDNF	627	broad.mit.edu	37	chr11	27695654	27695654	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttgttaaattccactgaaaCgtggaggtacacagcacagc	9	9	0	1	rs368243822		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:27695654C>T	ENST00000420794.1	-	0	318				BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.V60I|BDNF_ENST00000525950.1_Intron|BDNF_ENST00000395986.2_Intron|BDNF_ENST00000533131.1_Intron|BDNF_ENST00000395978.3_Intron|BDNF_ENST00000356660.4_Intron|BDNF_ENST00000314915.6_Intron|BDNF_ENST00000418212.1_Intron|BDNF_ENST00000532997.1_Intron|BDNF_ENST00000530861.1_Intron|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000584049.1_Intron|BDNF_ENST00000395981.3_Intron|BDNF-AS_ENST00000501663.2_RNA|BDNF_ENST00000395980.2_Intron|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395983.3_Intron|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000533246.1_Intron|BDNF-AS_ENST00000501176.2_RNA	NM_001143811.1	NP_001137283.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor						axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						TCCACTGAAACGTGGAGGTAC	0.453																																						ENST00000438929.1																			0				breast(1)|large_intestine(3)|lung(2)	6						c.(178-180)Gtt>Att		brain-derived neurotrophic factor		C	,,,,,,,,,,,,,,ILE/VAL	0,3134		0,0,1567	55	49	51		,,,,,,,,,,,,,,178	-0.3	0	11		51	1,7161		0,1,3580	no	intron,intron,intron,intron,intron,utr-5,intron,intron,intron,intron,intron,intron,intron,intron,missense	BDNF	NM_001143805.1,NM_001143806.1,NM_001143807.1,NM_001143808.1,NM_001143809.1,NM_001143811.1,NM_001143812.1,NM_001143813.1,NM_001143814.1,NM_001709.4,NM_170731.4,NM_170732.4,NM_170733.3,NM_170734.3,NM_001143810.1	,,,,,,,,,,,,,,29	0,1,5147	TT,TC,CC		0.014,0.0,0.0097	,,,,,,,,,,,,,,benign	,,,,,,,,,,,,,,60/330	27695654	1,10295	1567	3581	5148	SO:0001623	5_prime_UTR_variant	627					extracellular region	growth factor activity	g.chr11:27695654C>T	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	ENST00000420794.1:c.-186G>A	11.37:g.27695654C>T			Somatic				BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395983.3_Intron|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000533246.1_Intron|BDNF_ENST00000395981.3_Intron|BDNF_ENST00000533131.1_Intron|BDNF_ENST00000584049.1_Intron|BDNF_ENST00000532997.1_Intron|BDNF_ENST00000395980.2_Intron|BDNF_ENST00000525950.1_Intron|BDNF_ENST00000530861.1_Intron|BDNF_ENST00000314915.6_Intron|BDNF_ENST00000395986.2_Intron|BDNF_ENST00000418212.1_Intron|BDNF_ENST00000395978.3_Intron|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000356660.4_Intron|BDNF-AS_ENST00000501663.2_RNA|BDNF_ENST00000420794.1_5'UTR|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530686.1_RNA	p.V60I	NM_001143810.1	NP_001137282.1	WXS	Illumina GAIIx	Phase_I	P23560	BDNF_HUMAN			2	318	-			0					A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	ENST00000420794.1	37	c.178G>A	CCDS7866.1	.	.	.	.	.	.	.	.	.	.	C	5.030	0.191278	0.09547	0.0	1.4E-4	ENSG00000176697	ENST00000438929	T	0.57436	0.4	5.78	-0.3	0.12804	.	.	.	.	.	T	0.32615	0.0835	.	.	.	0.18873	N	0.999989	B	0.15141	0.012	B	0.14023	0.01	T	0.18085	-1.0348	8	0.26408	T	0.33	.	5.8891	0.18897	0.0:0.3855:0.1329:0.4816	.	60	P23560-4	.	I	60	ENSP00000414303:V60I	ENSP00000414303:V60I	V	-	1	0	BDNF	27652230	0.000000	0.05858	0.001000	0.08648	0.384000	0.30261	-0.375000	0.07475	-0.357000	0.08175	0.655000	0.94253	GTT		0.453	BDNF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_170735		8	12	0	0	0	1	0	8	12					T	27695654	C	T	27695654	1	4	48	0	1	0	0	0	0	0	0	0	1394	536	19	1		1	BDNF	11	27695654	5'UTR	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	15562	27695654	107310862	2670	7138										
CCDC73	493860	broad.mit.edu	37	chr11	32637489	32637489	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tataattttaaggttaccatCtataattatttcctctataa	2	6	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:32637489C>T	ENST00000335185.5	-	15	1415	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	458										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)					AGGTTACCATCTATAATTATT	0.269																																						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.(1372-1374)Gat>Aat		coiled-coil domain containing 73							30	28	28					11																	32637489		1768	4031	5799	SO:0001583	missense	493860							g.chr11:32637489C>T	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.1372G>A	11.37:g.32637489C>T	ENSP00000335325:p.Asp458Asn		Somatic				CCDC73_ENST00000534415.1_5'UTR	p.D458N	NM_001008391.2	NP_001008392.2	WXS	Illumina GAIIx	Phase_I	Q6ZRK6	CCD73_HUMAN			15	1415	-	Breast(20;0.112)		458					Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.1372G>A	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687047	0.29962	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.34	4.39	0.52855	.	0.742191	0.12444	N	0.468362	T	0.32941	0.0846	N	0.08118	0	0.80722	D	1	B;B	0.18310	0.027;0.007	B;B	0.18263	0.021;0.015	T	0.13045	-1.0524	9	0.59425	D	0.04	.	8.966	0.35877	0.0:0.8895:0.0:0.1105	.	448;458	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	N	458	.	ENSP00000335325:D458N	D	-	1	0	CCDC73	32594065	0.022000	0.18835	0.443000	0.26883	0.360000	0.29518	0.125000	0.15749	1.306000	0.44926	0.585000	0.79938	GAT		0.269	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		6	17	0	0	0	1	0	6	17					T	32637489	C	T	32637489	3	4	48	1	0	0	0	0	1	0	0	0	2848	913	32	3	1883	3	CCDC73	11	32637489	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4941835	32637489	102369027	2671	7139										
DEPDC7	91614	broad.mit.edu	37	chr11	33054270	33054270	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaagctattgttgacaataaAaatttatccaaaggcaaaac	5	6	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:33054270A>C	ENST00000241051.3	+	7	1286	c.1194A>C	c.(1192-1194)aaA>aaC	p.K398N	DEPDC7_ENST00000311388.3_Missense_Mutation_p.K389N	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	398					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TTGACAATAAAAATTTATCCA	0.274																																						ENST00000311388.3																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						c.(1165-1167)aaA>aaC		DEP domain containing 7							70	73	72					11																	33054270		1792	4064	5856	SO:0001583	missense	91614				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:33054270A>C		CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.1194A>C	11.37:g.33054270A>C	ENSP00000241051:p.Lys398Asn		Somatic				DEPDC7_ENST00000241051.3_Missense_Mutation_p.K398N	p.K389N	NM_139160.2	NP_631899.2	WXS	Illumina GAIIx	Phase_I	Q96QD5	DEPD7_HUMAN			7	1543	+			398					G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	c.1167A>C	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.223109	0.58668	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.64085	-0.08;-0.08	5.52	5.52	0.82312	.	0.092424	0.85682	D	0.000000	T	0.75443	0.3850	M	0.73598	2.24	0.43076	D	0.994722	D;D	0.89917	1.0;0.999	D;D	0.80764	0.973;0.994	T	0.75079	-0.3444	10	0.32370	T	0.25	-12.3591	10.0639	0.42292	0.9248:0.0:0.0752:0.0	.	389;398	G5E941;Q96QD5	.;DEPD7_HUMAN	N	398;389	ENSP00000241051:K398N;ENSP00000308971:K389N	ENSP00000241051:K398N	K	+	3	2	DEPDC7	33010846	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.298000	0.51818	2.077000	0.62373	0.377000	0.23210	AAA		0.274	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160		27	45	0	0	0	1	0	27	45					C	33054270	A	C	33054270	3	2	48	1	0	0	0	0	1	0	0	0	4446	11	1	4	1270	4	DEPDC7	11	33054270	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	416781	33054270	101952246	2672	7140										
TCP11L1	55346	broad.mit.edu	37	chr11	33083232	33083232	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagaattacgcttacctgaAgcttctgaagtgggaccacc	9	12	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:33083232A>C	ENST00000334274.4	+	7	1332	c.932A>C	c.(931-933)aAg>aCg	p.K311T	TCP11L1_ENST00000324357.9_Missense_Mutation_p.K90T|TCP11L1_ENST00000432887.1_Missense_Mutation_p.K311T|TCP11L1_ENST00000531632.2_Missense_Mutation_p.K311T	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	311						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						GCTTACCTGAAGCTTCTGAAG	0.527																																						ENST00000334274.4																			0				kidney(1)|liver(2)|lung(2)|skin(1)	6						c.(931-933)aAg>aCg		t-complex 11, testis-specific-like 1							40	37	38					11																	33083232		2202	4298	6500	SO:0001583	missense	55346							g.chr11:33083232A>C	BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 1"				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.932A>C	11.37:g.33083232A>C	ENSP00000335595:p.Lys311Thr		Somatic				TCP11L1_ENST00000531632.2_Missense_Mutation_p.K311T|TCP11L1_ENST00000432887.1_Missense_Mutation_p.K311T|TCP11L1_ENST00000324357.9_Missense_Mutation_p.K90T	p.K311T	NM_018393.3	NP_060863.3	WXS	Illumina GAIIx	Phase_I	Q9NUJ3	T11L1_HUMAN			7	1332	+			311					D3DR01|Q8IVX4	Missense_Mutation	SNP	ENST00000334274.4	37	c.932A>C	CCDS7882.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.735778	0.49045	.	.	ENSG00000176148	ENST00000334274;ENST00000531632;ENST00000432887;ENST00000324357	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.42	0.453	0.16639	.	0.342101	0.35013	N	0.003506	T	0.17408	0.0418	M	0.78637	2.42	0.43259	D	0.995197	P	0.47841	0.901	P	0.44732	0.459	T	0.02020	-1.1228	10	0.72032	D	0.01	-31.0294	5.208	0.15300	0.6757:0.0:0.203:0.1213	.	311	Q9NUJ3	T11L1_HUMAN	T	311;311;311;90	ENSP00000335595:K311T;ENSP00000433067:K311T;ENSP00000395070:K311T;ENSP00000316279:K90T	ENSP00000316279:K90T	K	+	2	0	TCP11L1	33039808	1.000000	0.71417	0.992000	0.48379	0.184000	0.23303	2.502000	0.45398	-0.174000	0.10743	0.528000	0.53228	AAG		0.527	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4	NM_018393		8	28	0	0	0	1	0	8	28					C	33083232	A	C	33083232	3	2	48	1	0	0	0	0	1	0	0	0	15729	72	3	4	954	4	TCP11L1	11	33083232	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	28962	33083232	101923284	2673	7141										
FBXO3	26273	broad.mit.edu	37	chr11	33763477	33763477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaaaggcgtgagcagcggcGtctgcgaatgggaacatcaa	14	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:33763477G>A	ENST00000265651.3	-	11	1411	c.1393C>T	c.(1393-1395)Cgc>Tgc	p.R465C	FBXO3_ENST00000531080.1_Missense_Mutation_p.R152C|FBXO3_ENST00000526785.1_Missense_Mutation_p.R352C|FBXO3_ENST00000532057.1_Missense_Mutation_p.R152C|FBXO3_ENST00000530401.1_3'UTR	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	465	Poly-Arg.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		GAGCAGCGGCGTCTGCGAATG	0.428																																						ENST00000526785.1																			0				NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13						c.(1054-1056)Cgc>Tgc		F-box protein 3							203	161	175					11																	33763477		2202	4298	6500	SO:0001583	missense	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33763477G>A	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"F-boxes /  "other""	13582	protein-coding gene	gene with protein product		609089	"F-box only protein 3"			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1393C>T	11.37:g.33763477G>A	ENSP00000265651:p.Arg465Cys		Somatic				FBXO3_ENST00000532057.1_Missense_Mutation_p.R152C|FBXO3_ENST00000531080.1_Missense_Mutation_p.R152C|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000265651.3_Missense_Mutation_p.R465C	p.R352C			WXS	Illumina GAIIx	Phase_I	Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	10	4805	-		Lung NSC(402;0.0804)	465			ApaG.		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	ENST00000265651.3	37	c.1054C>T	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314064	0.40996	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000531080;ENST00000532057	T;T	0.49139	0.79;0.79	4.78	3.78	0.43462	.	0.126562	0.50627	D	0.000103	T	0.28830	0.0715	N	0.14661	0.345	0.80722	D	1	D	0.63880	0.993	B	0.41135	0.348	T	0.09640	-1.0665	10	0.48119	T	0.1	-7.9668	10.8936	0.47010	0.0:0.3381:0.6619:0.0	.	465	Q9UK99	FBX3_HUMAN	C	352;465;152;152	ENSP00000435680:R352C;ENSP00000265651:R465C	ENSP00000265651:R465C	R	-	1	0	FBXO3	33720053	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.888000	0.39708	2.339000	0.79563	0.561000	0.74099	CGC		0.428	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		15	44	0	0	0	1	0	15	44					A	33763477	G	A	33763477	3	1	48	1	0	0	0	0	1	0	0	0	5747	1145	40	1	26	1	FBXO3	11	33763477	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	680245	33763477	101243039	2674	7142										
CAPRIN1	4076	broad.mit.edu	37	chr11	34093499	34093499	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ataatttggagtttgcaaaaGaattacagaggagtttcatg	10	3	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:34093499G>T	ENST00000341394.4	+	4	520	c.331G>T	c.(331-333)Gaa>Taa	p.E111*	CAPRIN1_ENST00000389645.3_Nonsense_Mutation_p.E111*|CAPRIN1_ENST00000530820.1_Nonsense_Mutation_p.E111*|CAPRIN1_ENST00000529307.1_Nonsense_Mutation_p.E30*|CAPRIN1_ENST00000532820.1_Nonsense_Mutation_p.E111*	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	111					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GTTTGCAAAAGAATTACAGAG	0.333																																						ENST00000341394.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18						c.(331-333)Gaa>Taa		cell cycle associated protein 1							70	74	73					11																	34093499		2202	4298	6500	SO:0001587	stop_gained	4076				negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding	g.chr11:34093499G>T	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.331G>T	11.37:g.34093499G>T	ENSP00000340329:p.Glu111*		Somatic				CAPRIN1_ENST00000529307.1_Nonsense_Mutation_p.E30*|CAPRIN1_ENST00000532820.1_Nonsense_Mutation_p.E111*|CAPRIN1_ENST00000530820.1_Nonsense_Mutation_p.E111*|CAPRIN1_ENST00000389645.3_Nonsense_Mutation_p.E111*	p.E111*	NM_005898.4	NP_005889.3	WXS	Illumina GAIIx	Phase_I	Q14444	CAPR1_HUMAN			4	520	+		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)	111					A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Nonsense_Mutation	SNP	ENST00000341394.4	37	c.331G>T	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	G	34	5.367185	0.95900	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000534825;ENST00000532820;ENST00000530820;ENST00000529307	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.5384	19.8414	0.96690	0.0:0.0:1.0:0.0	.	.	.	.	X	111;111;111;111;111;30	.	ENSP00000340329:E111X	E	+	1	0	CAPRIN1	34050075	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.553000	0.82203	2.680000	0.91292	0.563000	0.77884	GAA		0.333	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		12	8	1	0	0.000151284	1	0.00016287	12	8					T	34093499	G	T	34093499	4	4	48	1	0	0	0	0	0	1	0	0	2637	943	33	2	341	2	CAPRIN1	11	34093499	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	330022	34093499	100913017	2675	7143										
SLC1A2	6506	broad.mit.edu	37	chr11	35308373	35308373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctataaagatggcggctaccGcttcataaagggctgtacca	10	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:35308373G>A	ENST00000278379.3	-	8	1499	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	SLC1A2_ENST00000479543.1_5'Flank|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A397V|SLC1A2_ENST00000606205.1_Missense_Mutation_p.A406V|RP1-68D18.3_ENST00000532760.1_RNA|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A397V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	406					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)			GGCGGCTACCGCTTCATAAAG	0.468																																					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.(1216-1218)gCg>gTg		solute carrier family 1 (glial high affinity glutamate transporter), member 2	L-Glutamic Acid(DB00142)						184	167	173					11																	35308373		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.chr11:35308373G>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.1217C>T	11.37:g.35308373G>A	ENSP00000278379:p.Ala406Val		Somatic				SLC1A2_ENST00000606205.1_Missense_Mutation_p.A406V|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A397V|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A397V	p.A406V	NM_004171.3	NP_004162.2	WXS	Illumina GAIIx	Phase_I	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		8	1499	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	406					B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.1217C>T	CCDS31459.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.749669|4.749669	0.89753|0.89753	.|.	.|.	ENSG00000110436|ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753|ENST00000531628	T;T;T|.	0.59772|.	0.24;0.24;0.24|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Sodium:dicarboxylate symporter, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84165|0.84165	0.5412|0.5412	M|M	0.86343|0.86343	2.81|2.81	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.969;0.999|.	D|D	0.85013|0.85013	0.0907|0.0907	10|5	0.87932|.	D|.	0|.	-21.4502|-21.4502	20.024|20.024	0.97514|0.97514	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	406;406|.	B4DQE9;P43004|.	.;EAA2_HUMAN|.	V|W	406;397;397|124	ENSP00000278379:A406V;ENSP00000379099:A397V;ENSP00000379102:A397V|.	ENSP00000278379:A406V|.	A|R	-|-	2|1	0|2	SLC1A2|SLC1A2	35264949|35264949	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.388000|0.388000	0.30384|0.30384	9.813000|9.813000	0.99286|0.99286	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.468	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		23	115	0	0	0	1	0	23	115					A	35308373	G	A	35308373	3	1	48	1	0	0	0	0	1	0	0	0	14447	1087	38	1	523	1	SLC1A2	11	35308373	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1214874	35308373	99698143	2676	7144										
PAMR1	25891	broad.mit.edu	37	chr11	35461197	35461197	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgactgaacctgcatcggaaGaactctccttctcaccaggt	8	13	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:35461197G>A	ENST00000378880.2	-	8	1523	c.1078C>T	c.(1078-1080)Ctt>Ttt	p.L360F	PAMR1_ENST00000378878.3_Missense_Mutation_p.L249F|PAMR1_ENST00000278360.3_Missense_Mutation_p.L377F|PAMR1_ENST00000532848.1_Missense_Mutation_p.L320F	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	360						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						TGCATCGGAAGAACTCTCCTT	0.453																																						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.(1078-1080)Ctt>Ttt		peptidase domain containing associated with muscle regeneration 1							165	158	160					11																	35461197		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35461197G>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.1078C>T	11.37:g.35461197G>A	ENSP00000368158:p.Leu360Phe		Somatic				PAMR1_ENST00000378878.3_Missense_Mutation_p.L249F|PAMR1_ENST00000278360.3_Missense_Mutation_p.L377F|PAMR1_ENST00000532848.1_Missense_Mutation_p.L320F	p.L360F	NM_001001991.1	NP_001001991.1	WXS	Illumina GAIIx	Phase_I	Q6UXH9	PAMR1_HUMAN			8	1523	-			360					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.1078C>T	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398399	0.83120	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.89485	-2.36;-2.37;-2.52;-2.35;-2.33	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.91057	0.7186	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.92559	0.6056	10	0.87932	D	0	.	19.1303	0.93402	0.0:0.0:1.0:0.0	.	249;360;377	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	F	377;360;249;320;337	ENSP00000278360:L377F;ENSP00000368158:L360F;ENSP00000368156:L249F;ENSP00000433868:L320F;ENSP00000432591:L337F	ENSP00000278360:L377F	L	-	1	0	PAMR1	35417773	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	5.696000	0.68287	2.515000	0.84797	0.643000	0.83706	CTT		0.453	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		28	60	0	0	0	1	0	28	60					A	35461197	G	A	35461197	3	1	48	1	0	0	0	0	1	0	0	0	11422	942	33	3	1100	3	PAMR1	11	35461197	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	152824	35461197	99545319	2677	7145										
TRAF6	7189	broad.mit.edu	37	chr11	36511925	36511925	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccattgcactgctgtgcttcGatttcagcaactttgtcctc	7	13	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:36511925G>A	ENST00000526995.1	-	7	1278	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	TRAF6_ENST00000348124.5_Silent_p.I344I|TRAF6_ENST00000529150.1_5'Flank	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	344	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GCTGTGCTTCGATTTCAGCAA	0.408																																						ENST00000526995.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27						c.(1030-1032)atC>atT		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							148	137	141					11																	36511925		2202	4298	6500	SO:0001819	synonymous_variant	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36511925G>A		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"RING-type (C3HC4) zinc fingers"	12036	protein-coding gene	gene with protein product		602355	"TNF receptor-associated factor 6"			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.1032C>T	11.37:g.36511925G>A			Somatic				TRAF6_ENST00000348124.5_Silent_p.I344I	p.I344I	NM_004620.3	NP_004611.1	WXS	Illumina GAIIx	Phase_I	Q9Y4K3	TRAF6_HUMAN			7	1278	-	all_lung(20;0.211)	all_hematologic(20;0.107)	344			Interaction with TAX1BP1.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Silent	SNP	ENST00000526995.1	37	c.1032C>T	CCDS7901.1																																																																																				0.408	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		31	86	0	0	0	1	0	31	86					A	36511925	G	A	36511925	2	1	48	1	0	0	0	0	0	0	0	1	16460	1048	37	1		1	TRAF6	11	36511925	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1050728	36511925	98494591	2678	7146										
RAG1	5896	broad.mit.edu	37	chr11	36597386	36597386	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagcatctccggaagaagatGaacctcaaaccaatcatgag	8	10	3	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:36597386G>T	ENST00000299440.5	+	2	2644	c.2532G>T	c.(2530-2532)atG>atT	p.M844I		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	844					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)				GGAAGAAGATGAACCTCAAAC	0.468									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(2530-2532)atG>atT		recombination activating gene 1							82	78	79					11																	36597386		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.chr11:36597386G>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2532G>T	11.37:g.36597386G>T	ENSP00000299440:p.Met844Ile		Somatic					p.M844I	NM_000448.2	NP_000439.1	WXS	Illumina GAIIx	Phase_I	P15918	RAG1_HUMAN			2	2644	+	all_lung(20;0.226)	all_hematologic(20;0.107)	844					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2532G>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877000	0.72180	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.86694	-2.16;-2.16	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	D	0.92564	0.7638	M	0.63208	1.945	0.80722	D	1	P	0.46912	0.886	P	0.61003	0.882	D	0.91861	0.5499	10	0.72032	D;D	0.01;0.01	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	844	P15918	RAG1_HUMAN	I	844	ENSP00000434610:M844I;ENSP00000299440:M844I	ENSP00000299440:M844I;ENSP00000299440:M844I	M	+	3	0	RAG1	36553962	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.476000	0.97823	2.932000	0.99384	0.644000	0.83932	ATG		0.468	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		17	57	1	0	1.5739e-10	1	1.93697e-10	17	57					T	36597386	G	T	36597386	3	4	48	1	0	0	0	0	1	0	0	0	13018	1290	45	2	2534	2	RAG1	11	36597386	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	85461	36597386	98409130	2679	7147										
ACCSL	390110	broad.mit.edu	37	chr11	44076774	44076774	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ataacctacatgtgatcataGatgagatttacatgctgtct	7	7	2	3	rs375117778		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:44076774G>T	ENST00000378832.1	+	9	1128	c.1072G>T	c.(1072-1074)Gat>Tat	p.D358Y		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	358					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TGTGATCATAGATGAGATTTA	0.393																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(1072-1074)Gat>Tat		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							112	106	108					11																	44076774		1926	4140	6066	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44076774G>T		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1072G>T	11.37:g.44076774G>T	ENSP00000368109:p.Asp358Tyr		Somatic					p.D358Y	NM_001031854.2	NP_001027025.2	WXS	Illumina GAIIx	Phase_I	Q4AC99	1A1L2_HUMAN			9	1128	+			358						Missense_Mutation	SNP	ENST00000378832.1	37	c.1072G>T	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297274	0.60086	.	.	ENSG00000205126	ENST00000378832	D	0.82711	-1.64	4.14	4.14	0.48551	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.94198	0.8138	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95978	0.8975	10	0.87932	D	0	-9.7798	14.3224	0.66496	0.0:0.0:1.0:0.0	.	358	Q4AC99	1A1L2_HUMAN	Y	358	ENSP00000368109:D358Y	ENSP00000368109:D358Y	D	+	1	0	ACCSL	44033350	1.000000	0.71417	0.320000	0.25306	0.735000	0.41995	8.121000	0.89582	2.291000	0.77112	0.655000	0.94253	GAT		0.393	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		3	14	1	0	0.115264	1	0.116507	3	14					T	44076774	G	T	44076774	3	4	48	1	0	0	0	0	1	0	0	0	134	942	33	2	1106	2	ACCSL	11	44076774	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	7479388	44076774	90929742	2680	7148										
TSPAN18	90139	broad.mit.edu	37	chr11	44931436	44931436	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggccgtccgtgagaacaagTgtctgctgctatttgtgagt	14	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:44931436T>C	ENST00000520358.2	+	5	659	c.244T>C	c.(244-246)Tgt>Cgt	p.C82R	TSPAN18_ENST00000340160.3_Missense_Mutation_p.C82R			Q96SJ8	TSN18_HUMAN	tetraspanin 18	82						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(6)|lung(3)	10						TGAGAACAAGTGTCTGCTGCT	0.647																																						ENST00000340160.3																			0				endometrium(1)|large_intestine(6)|lung(3)	10						c.(244-246)Tgt>Cgt		tetraspanin 18							37	41	40					11																	44931436		2203	4299	6502	SO:0001583	missense	90139					integral to membrane		g.chr11:44931436T>C	AY358087	CCDS7910.1	11p11.2	2013-02-14				ENSG00000157570		"Tetraspanins"	20660	protein-coding gene	gene with protein product						11756464	Standard	NM_130783		Approved	TSPAN	uc001mye.4	Q96SJ8		ENST00000520358.2:c.244T>C	11.37:g.44931436T>C	ENSP00000429993:p.Cys82Arg		Somatic				TSPAN18_ENST00000520358.2_Missense_Mutation_p.C82R	p.C82R	NM_130783.4	NP_570139.3	WXS	Illumina GAIIx	Phase_I	Q96SJ8	TSN18_HUMAN			4	483	+			82					Q6UY44|Q8NBI9	Missense_Mutation	SNP	ENST00000520358.2	37	c.244T>C	CCDS7910.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.5|20.5	3.997266|3.997266	0.74818|0.74818	.|.	.|.	ENSG00000157570|ENSG00000157570	ENST00000533786;ENST00000520358;ENST00000520999;ENST00000340160|ENST00000518429	D;D;D;D|.	0.83250|.	-1.7;-1.7;-1.7;-1.7|.	5.41|5.41	4.24|4.24	0.50183|0.50183	Tetraspanin, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80149|0.80149	0.4570|0.4570	M|M	0.91920|0.91920	3.255|3.255	0.80722|0.80722	D|D	1|1	D;D|.	0.67145|.	0.996;0.991|.	D;P|.	0.70935|.	0.971;0.827|.	D|D	0.84341|0.84341	0.0527|0.0527	10|5	0.42905|.	T|.	0.14|.	.|.	11.761|11.761	0.51903|0.51903	0.1314:0.0:0.0:0.8686|0.1314:0.0:0.0:0.8686	.|.	82;82|.	Q8WUV1;Q96SJ8|.	.;TSN18_HUMAN|.	R|A	82;82;92;82|85	ENSP00000433592:C82R;ENSP00000429993:C82R;ENSP00000427942:C92R;ENSP00000339820:C82R|.	ENSP00000339820:C82R|.	C|V	+|+	1|2	0|0	TSPAN18|TSPAN18	44888012|44888012	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.979000|4.979000	0.63806|0.63806	2.050000|2.050000	0.60909|0.60909	0.454000|0.454000	0.30748|0.30748	TGT|GTG		0.647	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376197.3	NM_130783		24	37	0	0	0	1	0	24	37					C	44931436	T	C	44931436	3	2	48	1	0	0	0	0	1	0	0	0	16657	1696	59	4	250	4	TSPAN18	11	44931436	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	854662	44931436	90075080	2681	7149										
CRY2	1408	broad.mit.edu	37	chr11	45882464	45882464	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttcaggccatcatcagccGcatggagctgcccaagaagc	10	14	3	1	rs144003583	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:45882464G>A	ENST00000443527.2	+	4	618	c.596G>A	c.(595-597)cGc>cAc	p.R199H	CRY2_ENST00000473199.1_Intron|CRY2_ENST00000417225.2_Missense_Mutation_p.R117H	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	178					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						ATCATCAGCCGCATGGAGCTG	0.582													G|||	5	0.000998403	0.0023	0.0014	5008	,	,		17128	0.001		0	False		,,,				2504	0				Esophageal Squamous(106;91 1499 8126 12599 39610)	ENST00000443527.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						c.(595-597)cGc>cAc		cryptochrome 2 (photolyase-like)		G	HIS/ARG,HIS/ARG	5,4401	8.1+/-20.4	0,5,2198	94	86	89		350,596	6	1	11	dbSNP_134	89	0,8598		0,0,4299	yes	missense,missense	CRY2	NM_001127457.1,NM_021117.3	29,29	0,5,6497	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging,probably-damaging	117/533,199/615	45882464	5,12999	2203	4299	6502	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45882464G>A	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"cryptochrome 2 (photolyase-like)"			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.596G>A	11.37:g.45882464G>A	ENSP00000406751:p.Arg199His		Somatic				CRY2_ENST00000417225.2_Missense_Mutation_p.R117H|CRY2_ENST00000473199.1_Intron	p.R199H	NM_021117.3	NP_066940.2	WXS	Illumina GAIIx	Phase_I	Q49AN0	CRY2_HUMAN			4	618	+			178					B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.596G>A	CCDS7915.2	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	G	36	5.856288	0.97030	0.001135	0.0	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	L	0.58810	1.83	0.80722	D	1	D;D	0.54964	0.969;0.963	P;P	0.56788	0.806;0.707	T	0.69815	-0.5043	9	0.49607	T	0.09	-27.1839	20.5792	0.99380	0.0:0.0:1.0:0.0	.	199;117	B4DZD6;Q49AN0-2	.;.	H	117;199	.	ENSP00000397419:R117H	R	+	2	0	CRY2	45839040	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.881000	0.87252	2.873000	0.98535	0.561000	0.74099	CGC		0.582	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		35	63	0	0	0	1	0	35	63					A	45882464	G	A	45882464	3	1	48	1	0	0	0	0	1	0	0	0	3906	1087	38	1	646	1	CRY2	11	45882464	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	951028	45882464	89124052	2682	7150										
CKAP5	9793	broad.mit.edu	37	chr11	46799031	46799031	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgatagggatgcctaaattTtttacatgttgcttaatatt	7	4	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:46799031T>G	ENST00000529230.1	-	23	2866	c.2820A>C	c.(2818-2820)aaA>aaC	p.K940N	CKAP5_ENST00000415402.1_Missense_Mutation_p.K940N|CKAP5_ENST00000354558.3_Missense_Mutation_p.K940N|CKAP5_ENST00000312055.5_Missense_Mutation_p.K940N			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	940					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						TGCCTAAATTTTTTACATGTT	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.(2818-2820)aaA>aaC		cytoskeleton associated protein 5							135	125	128					11																	46799031		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46799031T>G		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.2820A>C	11.37:g.46799031T>G	ENSP00000432768:p.Lys940Asn		Somatic				CKAP5_ENST00000354558.3_Missense_Mutation_p.K940N|CKAP5_ENST00000415402.1_Missense_Mutation_p.K940N|CKAP5_ENST00000312055.5_Missense_Mutation_p.K940N	p.K940N			WXS	Illumina GAIIx	Phase_I	Q14008	CKAP5_HUMAN			23	2866	-			940					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.2820A>C	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	T	19.27	3.795604	0.70452	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.39	4.48	0.54585	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.000000	0.85682	D	0.000000	T	0.53126	0.1777	L	0.61218	1.895	0.51482	D	0.999927	D;D;D	0.63880	0.993;0.99;0.992	P;P;P	0.61070	0.848;0.814;0.883	T	0.51156	-0.8741	10	0.37606	T	0.19	-5.6457	8.4172	0.32678	0.0:0.7685:0.0:0.2315	.	940;940;940	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	N	940	ENSP00000432768:K940N;ENSP00000395302:K940N;ENSP00000310227:K940N;ENSP00000346566:K940N	ENSP00000310227:K940N	K	-	3	2	CKAP5	46755607	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.171000	0.42453	1.256000	0.44068	-0.366000	0.07423	AAA		0.428	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		18	27	0	0	0	1	0	18	27					G	46799031	T	G	46799031	3	3	48	1	0	0	0	0	1	0	0	0	3447	1838	64	4	3366	4	CKAP5	11	46799031	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	916567	46799031	88207485	2683	7151										
LRP4	4038	broad.mit.edu	37	chr11	46921846	46921846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atccgagtcatcctcacagtCgttgtccccgtcacacaccc	6	18	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:46921846C>T	ENST00000378623.1	-	3	525	c.283G>A	c.(283-285)Gac>Aac	p.D95N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	95	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCCTCACAGTCGTTGTCCCCG	0.527																																						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.(283-285)Gac>Aac		low density lipoprotein receptor-related protein 4							130	113	119					11																	46921846		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.chr11:46921846C>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.283G>A	11.37:g.46921846C>T	ENSP00000367888:p.Asp95Asn		Somatic					p.D95N	NM_002334.3	NP_002325.2	WXS	Illumina GAIIx	Phase_I	O75096	LRP4_HUMAN		Lung(87;0.159)	3	525	-			95			LDL-receptor class A 2.		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.283G>A	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	C	36	5.793868	0.96952	.	.	ENSG00000134569	ENST00000378623;ENST00000534404	D;D	0.99005	-5.32;-5.32	5.63	5.63	0.86233	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.118369	0.56097	D	0.000040	D	0.99363	0.9776	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.99278	1.0895	10	0.59425	D	0.04	.	19.6834	0.95972	0.0:1.0:0.0:0.0	.	140;95	C9JRN7;O75096	.;LRP4_HUMAN	N	95;46	ENSP00000367888:D95N;ENSP00000434763:D46N	ENSP00000367888:D95N	D	-	1	0	LRP4	46878422	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.657000	0.90304	0.561000	0.74099	GAC		0.527	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		45	70	0	0	0	1	0	45	70					T	46921846	C	T	46921846	3	4	48	1	0	0	0	0	1	0	0	0	8968	884	31	1	5578	1	LRP4	11	46921846	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	122815	46921846	88084670	2684	7152										
MADD	8567	broad.mit.edu	37	chr11	47297547	47297547	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agattgaggcctggatctatCgattgctgcgctccccagta	11	11	1	2	rs369333371		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:47297547C>T	ENST00000311027.5	+	4	922	c.757C>T	c.(757-759)Cga>Tga	p.R253*	MADD_ENST00000402192.2_Nonsense_Mutation_p.R253*|MADD_ENST00000342922.4_Nonsense_Mutation_p.R253*|MADD_ENST00000407859.3_Nonsense_Mutation_p.R253*|MADD_ENST00000406482.1_Nonsense_Mutation_p.R253*|MADD_ENST00000349238.3_Nonsense_Mutation_p.R253*|MADD_ENST00000395344.3_Nonsense_Mutation_p.R253*|MADD_ENST00000395336.3_Nonsense_Mutation_p.R253*|MADD_ENST00000402799.1_Nonsense_Mutation_p.R253*	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)		CTGGATCTATCGATTGCTGCG	0.562																																						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.(757-759)Cga>Tga		MAP-kinase activating death domain							149	128	135					11																	47297547		2201	4298	6499	SO:0001587	stop_gained	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.chr11:47297547C>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.757C>T	11.37:g.47297547C>T	ENSP00000310933:p.Arg253*		Somatic				MADD_ENST00000402192.2_Nonsense_Mutation_p.R253*|MADD_ENST00000407859.3_Nonsense_Mutation_p.R253*|MADD_ENST00000402799.1_Nonsense_Mutation_p.R253*|MADD_ENST00000349238.3_Nonsense_Mutation_p.R253*|MADD_ENST00000395344.3_Nonsense_Mutation_p.R253*|MADD_ENST00000395336.3_Nonsense_Mutation_p.R253*|MADD_ENST00000311027.5_Nonsense_Mutation_p.R253*|MADD_ENST00000406482.1_Nonsense_Mutation_p.R253*	p.R253*	NM_130470.2	NP_569826.2	WXS	Illumina GAIIx	Phase_I	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	4	1114	+			253			DENN.			Nonsense_Mutation	SNP	ENST00000311027.5	37	c.757C>T	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	38	6.902503	0.97924	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000428807;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	.	.	.	5.64	3.68	0.42216	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2843	14.9013	0.70681	0.2609:0.739:0.0:0.0	.	.	.	.	X	253;253;31;253;253;253;253;253;253;253;253	.	ENSP00000310933:R253X	R	+	1	2	MADD	47254123	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.373000	0.44266	1.363000	0.46019	-0.182000	0.12963	CGA		0.562	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			41	54	0	0	0	1	0	41	54					T	47297547	C	T	47297547	4	4	48	1	0	0	0	0	0	1	0	0	9161	876	31	1	767	1	MADD	11	47297547	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	375701	47297547	87708969	2685	7153										
MYBPC3	4607	broad.mit.edu	37	chr11	47364690	47364690	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggcaccgatggactcaaaGatgtacctgggtgggggccg	16	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:47364690G>T	ENST00000545968.1	-	15	1287	c.1233C>A	c.(1231-1233)atC>atA	p.I411I	MYBPC3_ENST00000256993.4_Silent_p.I410I|MYBPC3_ENST00000399249.2_Silent_p.I411I	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	411	Ig-like C2-type 2.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGGACTCAAAGATGTACCTGG	0.642																																						ENST00000399249.2																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(1231-1233)atC>atA		myosin binding protein C, cardiac							34	39	37					11																	47364690		2086	4200	6286	SO:0001819	synonymous_variant	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47364690G>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.1233C>A	11.37:g.47364690G>T			Somatic				MYBPC3_ENST00000545968.1_Silent_p.I411I|MYBPC3_ENST00000256993.4_Silent_p.I410I	p.I411I			WXS	Illumina GAIIx	Phase_I	Q14896	MYPC3_HUMAN		Lung(87;0.176)	14	1287	-			410			Ig-like C2-type 2.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	c.1233C>A	CCDS53621.1																																																																																				0.642	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			8	17	1	0	0.00307968	1	0.00320271	8	17					T	47364690	G	T	47364690	2	4	48	1	0	0	0	0	0	0	0	1	10022	932	33	2		2	MYBPC3	11	47364690	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	67143	47364690	87641826	2686	7154										
FNBP4	23360	broad.mit.edu	37	chr11	47767735	47767735	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctatattgtccaacataattTcctgtggctttactattgtt	5	8	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:47767735T>A	ENST00000263773.5	-	7	1130	c.1118A>T	c.(1117-1119)gAa>gTa	p.E373V	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	373						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						CAACATAATTTCCTGTGGCTT	0.388																																						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.(1117-1119)gAa>gTa		formin binding protein 4							250	245	247					11																	47767735		1852	4098	5950	SO:0001583	missense	23360							g.chr11:47767735T>A	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.1118A>T	11.37:g.47767735T>A	ENSP00000263773:p.Glu373Val		Somatic				FNBP4_ENST00000534003.1_5'UTR	p.E373V	NM_015308.2	NP_056123.2	WXS	Illumina GAIIx	Phase_I	Q8N3X1	FNBP4_HUMAN			7	1130	-			373					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.1118A>T	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173490	0.57584	.	.	ENSG00000109920	ENST00000263773	T	0.34275	1.37	6.17	6.17	0.99709	.	0.410761	0.28989	N	0.013486	T	0.25975	0.0633	N	0.24115	0.695	0.33644	D	0.607598	B	0.31730	0.337	B	0.32211	0.142	T	0.41233	-0.9520	10	0.42905	T	0.14	-13.8616	11.0511	0.47889	0.0:0.0685:0.0:0.9315	.	373	Q8N3X1	FNBP4_HUMAN	V	373	ENSP00000263773:E373V	ENSP00000263773:E373V	E	-	2	0	FNBP4	47724311	0.999000	0.42202	0.944000	0.38274	0.767000	0.43475	6.415000	0.73328	2.371000	0.80710	0.533000	0.62120	GAA		0.388	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			44	96	0	0	0	1	0	44	96					A	47767735	T	A	47767735	3	1	48	1	0	0	0	0	1	0	0	0	5975	1783	62	4	1979	4	FNBP4	11	47767735	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	403045	47767735	87238781	2687	7155										
OR4A47	403253	broad.mit.edu	37	chr11	48510546	48510546	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgctggcttatcatttataGatatcatttattcttcatcc	4	8	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:48510546G>T	ENST00000446524.1	+	1	278	c.202G>T	c.(202-204)Gat>Tat	p.D68Y		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ATCATTTATAGATATCATTTA	0.423																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(202-204)Gat>Tat		olfactory receptor, family 4, subfamily A, member 47							62	62	62					11																	48510546		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510546G>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.202G>T	11.37:g.48510546G>T	ENSP00000412752:p.Asp68Tyr		Somatic					p.D68Y	NM_001005512.2	NP_001005512.2	WXS	Illumina GAIIx	Phase_I	Q6IF82	O4A47_HUMAN			1	278	+			68						Missense_Mutation	SNP	ENST00000446524.1	37	c.202G>T	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	9.660	1.143762	0.21205	.	.	ENSG00000237388	ENST00000446524	T	0.01185	5.21	4.66	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000030	T	0.11024	0.0269	H	0.97051	3.93	0.33224	D	0.555107	D	0.89917	1.0	D	0.91635	0.999	T	0.24693	-1.0153	10	0.87932	D	0	.	10.7879	0.46415	0.0952:0.0:0.9048:0.0	.	68	Q6IF82	O4A47_HUMAN	Y	68	ENSP00000412752:D68Y	ENSP00000412752:D68Y	D	+	1	0	OR4A47	48467122	0.995000	0.38212	0.680000	0.29994	0.001000	0.01503	2.849000	0.48286	0.947000	0.37659	-0.424000	0.05967	GAT		0.423	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		20	30	1	0	8.34094e-07	1	9.42356e-07	20	30					T	48510546	G	T	48510546	3	4	48	1	0	0	0	0	1	0	0	0	11051	942	33	2	204	2	OR4A47	11	48510546	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	742811	48510546	86495970	2688	7156										
OR4A16	81327	broad.mit.edu	37	chr11	55111641	55111641	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaacatatttattcctagttCtaaggcaacaaataggcggt	8	7	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55111641C>A	ENST00000314721.2	+	1	1015	c.965C>A	c.(964-966)tCt>tAt	p.S322Y		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	322						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						ATTCCTAGTTCTAAGGCAACA	0.338																																						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.(964-966)tCt>tAt		olfactory receptor, family 4, subfamily A, member 16							22	23	23					11																	55111641		2193	4271	6464	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111641C>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.965C>A	11.37:g.55111641C>A	ENSP00000325128:p.Ser322Tyr		Somatic					p.S322Y	NM_001005274.1	NP_001005274.1	WXS	Illumina GAIIx	Phase_I	Q8NH70	O4A16_HUMAN			1	1015	+			322					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.965C>A	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	c	12.69	2.013317	0.35511	.	.	ENSG00000181961	ENST00000314721	T	0.00006	9.74	3.64	0.516	0.17019	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.26002	0.139	B	0.19666	0.026	T	0.01500	-1.1339	9	0.66056	D	0.02	.	3.6772	0.08297	0.1626:0.5668:0.1702:0.1004	.	322	Q8NH70	O4A16_HUMAN	Y	322	ENSP00000325128:S322Y	ENSP00000325128:S322Y	S	+	2	0	OR4A16	54868217	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-1.859000	0.01657	0.138000	0.18790	0.536000	0.68110	TCT		0.338	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		6	13	1	0	3.59834e-05	1	3.93264e-05	6	13					A	55111641	C	A	55111641	3	1	48	1	0	0	0	0	1	0	0	0	11050	913	32	2	967	2	OR4A16	11	55111641	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	6601095	55111641	79894875	2689	7157										
OR4C16	219428	broad.mit.edu	37	chr11	55339799	55339799	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttccttttctacttatccTtatctgatacttgcctctct	2	13	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55339799T>G	ENST00000314634.3	+	1	196	c.196T>G	c.(196-198)Tta>Gta	p.L66V		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTACTTATCCTTATCTGATAC	0.413																																						ENST00000314634.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(196-198)Tta>Gta		olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)							273	248	257					11																	55339799		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339799T>G	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.196T>G	11.37:g.55339799T>G	ENSP00000324913:p.Leu66Val		Somatic					p.L66V	NM_001004701.2	NP_001004701.2	WXS	Illumina GAIIx	Phase_I	Q8NGL9	OR4CG_HUMAN			1	196	+		all_epithelial(135;0.0748)	66					Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.196T>G	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	T	8.736	0.917899	0.17982	.	.	ENSG00000181935	ENST00000314634	T	0.00557	6.62	4.98	3.86	0.44501	GPCR, rhodopsin-like superfamily (1);	0.393410	0.21514	N	0.073337	T	0.00608	0.0020	L	0.45744	1.44	0.09310	N	1	B	0.23490	0.086	B	0.26094	0.066	T	0.44997	-0.9291	10	0.66056	D	0.02	.	8.486	0.33071	0.0:0.0918:0.0:0.9082	.	66	Q8NGL9	OR4CG_HUMAN	V	66	ENSP00000324913:L66V	ENSP00000324913:L66V	L	+	1	2	OR4C16	55096375	0.000000	0.05858	0.346000	0.25655	0.596000	0.36781	-1.105000	0.03323	0.945000	0.37605	0.448000	0.29417	TTA		0.413	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		11	115	0	0	0	1	0	11	115					G	55339799	T	G	55339799	3	3	48	1	0	0	0	0	1	0	0	0	11058	1606	56	4	198	4	OR4C16	11	55339799	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	228158	55339799	79666717	2690	7158										
OR4C6	219432	broad.mit.edu	37	chr11	55433247	55433247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttagttaccctcaacagtgGgatgatgtgtgtggccatct	11	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55433247G>A	ENST00000314259.3	+	1	634	c.605G>A	c.(604-606)gGg>gAg	p.G202E		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	202						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						CTCAACAGTGGGATGATGTGT	0.468																																						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.(604-606)gGg>gAg		olfactory receptor, family 4, subfamily C, member 6							141	123	129					11																	55433247		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433247G>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.605G>A	11.37:g.55433247G>A	ENSP00000324769:p.Gly202Glu		Somatic					p.G202E	NM_001004704.1	NP_001004704.1	WXS	Illumina GAIIx	Phase_I	Q8NH72	OR4C6_HUMAN			1	634	+			202					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.605G>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381977	0.42207	.	.	ENSG00000181903	ENST00000314259	T	0.38401	1.14	4.07	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.190258	0.25708	N	0.028832	T	0.66839	0.2830	H	0.94306	3.52	0.09310	N	1	D	0.71674	0.998	D	0.76071	0.987	T	0.61397	-0.7071	10	0.87932	D	0	.	11.1656	0.48541	0.0:0.0:0.815:0.185	.	202	Q8NH72	OR4C6_HUMAN	E	202	ENSP00000324769:G202E	ENSP00000324769:G202E	G	+	2	0	OR4C6	55189823	0.001000	0.12720	0.994000	0.49952	0.597000	0.36814	0.659000	0.24994	1.821000	0.53095	0.543000	0.68304	GGG		0.468	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		37	64	0	0	0	1	0	37	64					A	55433247	G	A	55433247	3	1	48	1	0	0	0	0	1	0	0	0	11061	1232	43	3	607	3	OR4C6	11	55433247	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	93448	55433247	79573269	2691	7159										
OR5D13	390142	broad.mit.edu	37	chr11	55541030	55541030	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcttgttcgtctacacagtCactgtagtggggaacttggg	12	8	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55541030C>T	ENST00000361760.1	+	1	117	c.117C>T	c.(115-117)gtC>gtT	p.V39V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(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)				TCTACACAGTCACTGTAGTGG	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.(115-117)gtC>gtT		olfactory receptor, family 5, subfamily D, member 13							152	143	146					11																	55541030		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541030C>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.117C>T	11.37:g.55541030C>T			Somatic					p.V39V	NM_001001967.1	NP_001001967.1	WXS	Illumina GAIIx	Phase_I	Q8NGL4	OR5DD_HUMAN			1	117	+		all_epithelial(135;0.196)	39					Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.117C>T	CCDS31507.1																																																																																				0.403	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		38	66	0	0	0	1	0	38	66					T	55541030	C	T	55541030	2	4	48	1	0	0	0	0	0	0	0	1	11163	813	29	3		3	OR5D13	11	55541030	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	107783	55541030	79465486	2692	7160										
OR5D14	219436	broad.mit.edu	37	chr11	55563549	55563549	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccggttaaacttctctggacCtaatgtaatcaaccacttct	5	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55563549C>A	ENST00000335605.1	+	1	518	c.518C>A	c.(517-519)cCt>cAt	p.P173H		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTCTCTGGACCTAATGTAATC	0.507																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(517-519)cCt>cAt		olfactory receptor, family 5, subfamily D, member 14							205	205	205					11																	55563549		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563549C>A	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.518C>A	11.37:g.55563549C>A	ENSP00000334456:p.Pro173His		Somatic					p.P173H	NM_001004735.1	NP_001004735.1	WXS	Illumina GAIIx	Phase_I	Q8NGL3	OR5DE_HUMAN			1	518	+		all_epithelial(135;0.196)	173					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.518C>A	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	1.342	-0.593935	0.03771	.	.	ENSG00000186113	ENST00000335605	T	0.38077	1.16	5.08	-4.38	0.03622	GPCR, rhodopsin-like superfamily (1);	0.877470	0.09566	N	0.784771	T	0.20618	0.0496	N	0.25245	0.725	0.09310	N	1	B	0.12630	0.006	B	0.18263	0.021	T	0.28839	-1.0031	10	0.62326	D	0.03	-0.6938	6.4154	0.21714	0.19:0.5987:0.0806:0.1307	.	173	Q8NGL3	OR5DE_HUMAN	H	173	ENSP00000334456:P173H	ENSP00000334456:P173H	P	+	2	0	OR5D14	55320125	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.396000	0.07278	-0.735000	0.04837	-1.161000	0.01788	CCT		0.507	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		51	109	1	0	1.07234e-20	1	1.47176e-20	51	109					A	55563549	C	A	55563549	3	1	48	1	0	0	0	0	1	0	0	0	11164	681	24	5	520	5	OR5D14	11	55563549	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	22519	55563549	79442967	2693	7161										
OR5D14	219436	broad.mit.edu	37	chr11	55563587	55563587	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttttgtgagtatactgctCtcatctctgtgtctggctct	8	10	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55563587C>T	ENST00000335605.1	+	1	556	c.556C>T	c.(556-558)Ctc>Ttc	p.L186F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTATACTGCTCTCATCTCTGT	0.468																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(556-558)Ctc>Ttc		olfactory receptor, family 5, subfamily D, member 14							220	216	217					11																	55563587		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563587C>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.556C>T	11.37:g.55563587C>T	ENSP00000334456:p.Leu186Phe		Somatic					p.L186F	NM_001004735.1	NP_001004735.1	WXS	Illumina GAIIx	Phase_I	Q8NGL3	OR5DE_HUMAN			1	556	+		all_epithelial(135;0.196)	186					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.556C>T	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	8.463	0.855779	0.17106	.	.	ENSG00000186113	ENST00000335605	T	0.00231	8.49	5.08	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40818	N	0.001005	T	0.00552	0.0018	M	0.87269	2.87	0.09310	N	1	D	0.67145	0.996	D	0.72625	0.978	T	0.29971	-0.9994	10	0.87932	D	0	-27.3318	9.3135	0.37919	0.2893:0.5704:0.1402:0.0	.	186	Q8NGL3	OR5DE_HUMAN	F	186	ENSP00000334456:L186F	ENSP00000334456:L186F	L	+	1	0	OR5D14	55320163	0.000000	0.05858	0.007000	0.13788	0.003000	0.03518	-1.750000	0.01822	0.496000	0.27904	-0.196000	0.12772	CTC		0.468	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		60	92	0	0	0	1	0	60	92					T	55563587	C	T	55563587	3	4	48	1	0	0	0	0	1	0	0	0	11164	913	32	3	558	3	OR5D14	11	55563587	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	38	55563587	79442929	2694	7162										
OR5L1	219437	broad.mit.edu	37	chr11	55579501	55579501	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atctacctcctgtcttaagtCttgcttgctctgatatcact	5	12	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55579501C>A	ENST00000333973.2	+	1	648	c.559C>A	c.(559-561)Ctt>Att	p.L187I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)				TGTCTTAAGTCTTGCTTGCTC	0.433																																						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.(559-561)Ctt>Att		olfactory receptor, family 5, subfamily L, member 1							250	222	231					11																	55579501		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579501C>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.559C>A	11.37:g.55579501C>A	ENSP00000335529:p.Leu187Ile		Somatic					p.L187I	NM_001004738.1	NP_001004738.1	WXS	Illumina GAIIx	Phase_I	Q8NGL2	OR5L1_HUMAN			1	648	+		all_epithelial(135;0.208)	187					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.559C>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.974685	0.74360	.	.	ENSG00000186117	ENST00000333973	T	0.00379	7.65	4.12	1.98	0.26296	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000315	T	0.00608	0.0020	L	0.51853	1.615	0.19945	N	0.999945	D	0.89917	1.0	D	0.80764	0.994	T	0.51593	-0.8686	10	0.52906	T	0.07	-24.2194	10.759	0.46253	0.3424:0.6576:0.0:0.0	.	187	Q8NGL2	OR5L1_HUMAN	I	187	ENSP00000335529:L187I	ENSP00000335529:L187I	L	+	1	0	OR5L1	55336077	0.087000	0.21565	0.004000	0.12327	0.814000	0.46013	0.573000	0.23699	0.699000	0.31761	0.428000	0.28381	CTT		0.433	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		5	183	1	0	0.014758	1	0.015099	5	183					A	55579501	C	A	55579501	3	1	48	1	0	0	0	0	1	0	0	0	11179	913	32	2	561	2	OR5L1	11	55579501	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	15914	55579501	79427015	2695	7163										
OR5D18	219438	broad.mit.edu	37	chr11	55587551	55587551	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtgctgctggttgtgggatCctatgcctggggagtctcat	15	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55587551C>A	ENST00000333976.4	+	1	466	c.446C>A	c.(445-447)tCc>tAc	p.S149Y		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	149						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)				GTTGTGGGATCCTATGCCTGG	0.473																																						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.(445-447)tCc>tAc		olfactory receptor, family 5, subfamily D, member 18							195	183	187					11																	55587551		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587551C>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.446C>A	11.37:g.55587551C>A	ENSP00000335025:p.Ser149Tyr		Somatic					p.S149Y	NM_001001952.1	NP_001001952.1	WXS	Illumina GAIIx	Phase_I	Q8NGL1	OR5DI_HUMAN			1	466	+		all_epithelial(135;0.208)	149					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.446C>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	9.161	1.018599	0.19355	.	.	ENSG00000186119	ENST00000333976	T	0.39056	1.1	4.66	1.68	0.24146	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34802	N	0.003675	T	0.68320	0.2988	H	0.96301	3.8	0.09310	N	1	D	0.65815	0.995	D	0.66979	0.948	T	0.60449	-0.7261	10	0.66056	D	0.02	-8.2198	6.479	0.22053	0.1457:0.6925:0.0:0.1617	.	149	Q8NGL1	OR5DI_HUMAN	Y	149	ENSP00000335025:S149Y	ENSP00000335025:S149Y	S	+	2	0	OR5D18	55344127	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.436000	0.06922	0.163000	0.19507	0.567000	0.79289	TCC		0.473	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		58	113	1	0	7.10663e-31	1	1.01603e-30	58	113					A	55587551	C	A	55587551	3	1	48	1	0	0	0	0	1	0	0	0	11166	855	30	2	448	2	OR5D18	11	55587551	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	8050	55587551	79418965	2696	7164										
OR5W2	390148	broad.mit.edu	37	chr11	55681139	55681139	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatttccttaaaataaaattTtatttttcagttttttcagg	3	4	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55681139T>G	ENST00000344514.1	-	1	919	c.920A>C	c.(919-921)aAa>aCa	p.K307T		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						aaataaaattttatttttCAG	0.303																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(919-921)aAa>aCa		olfactory receptor, family 5, subfamily W, member 2							13	14	14					11																	55681139		2094	4256	6350	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681139T>G	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.920A>C	11.37:g.55681139T>G	ENSP00000342448:p.Lys307Thr		Somatic					p.K307T	NM_001001960.1	NP_001001960.1	WXS	Illumina GAIIx	Phase_I	Q8NH69	OR5W2_HUMAN			1	919	-			307						Missense_Mutation	SNP	ENST00000344514.1	37	c.920A>C	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	.	9.021	0.984911	0.18889	.	.	ENSG00000187612	ENST00000344514	T	0.02763	4.17	4.2	3.08	0.35506	.	0.364935	0.19824	N	0.105223	T	0.03608	0.0103	L	0.57536	1.79	0.27432	N	0.953964	B	0.29571	0.249	B	0.28784	0.094	T	0.30060	-0.9991	10	0.48119	T	0.1	.	5.4813	0.16725	0.0:0.2197:0.0:0.7802	.	307	Q8NH69	OR5W2_HUMAN	T	307	ENSP00000342448:K307T	ENSP00000342448:K307T	K	-	2	0	OR5W2	55437715	0.000000	0.05858	0.098000	0.21074	0.685000	0.39939	-0.466000	0.06672	0.675000	0.31264	0.448000	0.29417	AAA		0.303	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		8	19	0	0	0	1	0	8	19					G	55681139	T	G	55681139	3	3	48	1	0	0	0	0	1	0	0	0	11194	1841	64	4	14	4	OR5W2	11	55681139	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	93588	55681139	79325377	2697	7165										
OR10AG1	282770	broad.mit.edu	37	chr11	55735436	55735436	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attggcgggatgtcacaaaaGaaatgattaattgtgttagt	11	3	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55735436G>T	ENST00000312345.2	-	1	554	c.504C>A	c.(502-504)ttC>ttA	p.F168L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TGTCACAAAAGAAATGATTAA	0.403																																						ENST00000312345.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(502-504)ttC>ttA		olfactory receptor, family 10, subfamily AG, member 1							77	75	76					11																	55735436		2201	4295	6496	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735436G>T	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.504C>A	11.37:g.55735436G>T	ENSP00000311477:p.Phe168Leu		Somatic					p.F168L	NM_001005491.1	NP_001005491.1	WXS	Illumina GAIIx	Phase_I	Q8NH19	O10AG_HUMAN			1	554	-	Esophageal squamous(21;0.0137)		168					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.504C>A	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286096	0.40394	.	.	ENSG00000174970	ENST00000312345	T	0.00346	8.01	5.37	1.86	0.25419	GPCR, rhodopsin-like superfamily (1);	0.219434	0.32608	N	0.005876	T	0.00440	0.0014	M	0.87547	2.89	0.09310	N	0.999994	B	0.26400	0.148	B	0.36766	0.232	T	0.24693	-1.0153	10	0.56958	D	0.05	.	7.467	0.27326	0.4172:0.0:0.5828:0.0	.	168	Q8NH19	O10AG_HUMAN	L	168	ENSP00000311477:F168L	ENSP00000311477:F168L	F	-	3	2	OR10AG1	55492012	0.007000	0.16637	0.998000	0.56505	0.905000	0.53344	-0.469000	0.06648	0.618000	0.30179	0.477000	0.44152	TTC		0.403	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		11	31	1	0	5.16669e-11	1	6.39918e-11	11	31					T	55735436	G	T	55735436	3	4	48	1	0	0	0	0	1	0	0	0	10906	933	33	2	404	2	OR10AG1	11	55735436	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	54297	55735436	79271080	2698	7166										
OR10AG1	282770	broad.mit.edu	37	chr11	55735728	55735728	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccaaatgtccatgagcattCttgggataatgattgttaca	8	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55735728C>A	ENST00000312345.2	-	1	262	c.212G>T	c.(211-213)aGa>aTa	p.R71I		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CATGAGCATTCTTGGGATAAT	0.368																																						ENST00000312345.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(211-213)aGa>aTa		olfactory receptor, family 10, subfamily AG, member 1							71	78	75					11																	55735728		2201	4295	6496	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735728C>A	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.212G>T	11.37:g.55735728C>A	ENSP00000311477:p.Arg71Ile		Somatic					p.R71I	NM_001005491.1	NP_001005491.1	WXS	Illumina GAIIx	Phase_I	Q8NH19	O10AG_HUMAN			1	262	-	Esophageal squamous(21;0.0137)		71					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.212G>T	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539723	0.45176	.	.	ENSG00000174970	ENST00000312345	T	0.00414	7.52	5.47	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.106999	0.41605	D	0.000850	T	0.00875	0.0029	M	0.81112	2.525	0.22521	N	0.99903	D	0.65815	0.995	D	0.63381	0.914	T	0.41378	-0.9512	10	0.87932	D	0	.	6.4477	0.21885	0.1818:0.7281:0.0:0.0902	.	71	Q8NH19	O10AG_HUMAN	I	71	ENSP00000311477:R71I	ENSP00000311477:R71I	R	-	2	0	OR10AG1	55492304	0.000000	0.05858	0.601000	0.28877	0.377000	0.30045	-0.067000	0.11579	2.625000	0.88918	0.477000	0.44152	AGA		0.368	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		27	57	1	0	1.66031e-10	1	2.0393e-10	27	57					A	55735728	C	A	55735728	3	1	48	1	0	0	0	0	1	0	0	0	10906	913	32	2	696	2	OR10AG1	11	55735728	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	292	55735728	79270788	2699	7167										
OR5F1	338674	broad.mit.edu	37	chr11	55761503	55761503	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattcacaccagccaaaataGaacttatgctttctttcagg	5	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55761503G>T	ENST00000278409.1	-	1	598	c.599C>A	c.(598-600)tCt>tAt	p.S200Y		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	200					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)					AGCCAAAATAGAACTTATGCT	0.453																																						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.(598-600)tCt>tAt		olfactory receptor, family 5, subfamily F, member 1							80	74	76					11																	55761503		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761503G>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.599C>A	11.37:g.55761503G>T	ENSP00000278409:p.Ser200Tyr		Somatic					p.S200Y	NM_003697.1	NP_003688.1	WXS	Illumina GAIIx	Phase_I	O95221	OR5F1_HUMAN			1	598	-	Esophageal squamous(21;0.00448)		200					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.599C>A	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	6.953	0.545705	0.13312	.	.	ENSG00000149133	ENST00000278409	T	0.00054	8.8	3.03	0.936	0.19488	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.11154	0.105	0.09310	N	1	B	0.16802	0.019	B	0.24848	0.056	T	0.24728	-1.0152	9	0.72032	D	0.01	.	2.8826	0.05652	0.2597:0.0:0.5229:0.2174	.	200	O95221	OR5F1_HUMAN	Y	200	ENSP00000278409:S200Y	ENSP00000278409:S200Y	S	-	2	0	OR5F1	55518079	0.000000	0.05858	0.002000	0.10522	0.064000	0.16182	-1.323000	0.02692	-0.031000	0.13781	0.297000	0.19635	TCT		0.453	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		28	64	1	0	9.80776e-20	1	1.33792e-19	28	64					T	55761503	G	T	55761503	3	4	48	1	0	0	0	0	1	0	0	0	11167	942	33	2	348	2	OR5F1	11	55761503	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	25775	55761503	79245013	2700	7168										
OR8I2	120586	broad.mit.edu	37	chr11	55861062	55861062	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccaatcggagatccatctcCtttgttggctgctttgttca	8	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55861062C>A	ENST00000302124.2	+	1	310	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GATCCATCTCCTTTGTTGGCT	0.388																																						ENST00000302124.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(277-279)tcC>tcA		olfactory receptor, family 8, subfamily I, member 2							166	154	158					11																	55861062		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861062C>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.279C>A	11.37:g.55861062C>A			Somatic				OR8I2_ENST00000560768.1_Silent_p.S93S	p.S93S			WXS	Illumina GAIIx	Phase_I	Q8N0Y5	OR8I2_HUMAN			1	310	+	Esophageal squamous(21;0.00693)		93					B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.279C>A	CCDS31517.1																																																																																				0.388	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		53	67	1	0	9.86064e-34	1	1.41589e-33	53	67					A	55861062	C	A	55861062	2	1	48	1	0	0	0	0	0	0	0	1	11249	668	24	5		5	OR8I2	11	55861062	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	99559	55861062	79145454	2701	7169										
OR8K5	219453	broad.mit.edu	37	chr11	55926970	55926970	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttactaaagtgtaaaacacaGaagccattttatcagtatca	5	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55926970G>T	ENST00000313447.1	-	1	823	c.824C>A	c.(823-825)tCt>tAt	p.S275Y		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTAAAACACAGAAGCCATTTT	0.393																																						ENST00000313447.1																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(823-825)tCt>tAt		olfactory receptor, family 8, subfamily K, member 5							106	91	96					11																	55926970		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55926970G>T	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.824C>A	11.37:g.55926970G>T	ENSP00000323853:p.Ser275Tyr		Somatic					p.S275Y	NM_001004058.2	NP_001004058.2	WXS	Illumina GAIIx	Phase_I	Q8NH50	OR8K5_HUMAN			1	823	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	275					Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.824C>A	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512520	0.44660	.	.	ENSG00000181752	ENST00000313447	T	0.00274	8.35	3.98	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000031	T	0.01387	0.0045	H	0.98866	4.355	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.17319	-1.0373	10	0.87932	D	0	.	14.5254	0.67884	0.0:0.0:1.0:0.0	.	275	Q8NH50	OR8K5_HUMAN	Y	275	ENSP00000323853:S275Y	ENSP00000323853:S275Y	S	-	2	0	OR8K5	55683546	0.010000	0.17322	0.896000	0.35187	0.800000	0.45204	1.716000	0.37981	2.202000	0.70862	0.465000	0.42564	TCT		0.393	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		13	22	1	0	5.50884e-06	1	6.10489e-06	13	22					T	55926970	G	T	55926970	3	4	48	1	0	0	0	0	1	0	0	0	11254	942	33	2	102	2	OR8K5	11	55926970	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	65908	55926970	79079546	2702	7170										
OR5T3	390154	broad.mit.edu	37	chr11	56020105	56020105	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggaactacagaatgttttCtcttggctgcaatggcttat	9	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56020105C>T	ENST00000303059.3	+	1	430	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L144I(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)					AGAATGTTTTCTCTTGGCTGC	0.403																																						ENST00000303059.3																			1	Substitution - Missense(1)	p.L144I(1)	large_intestine(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.(430-432)Ctc>Ttc		olfactory receptor, family 5, subfamily T, member 3							197	188	191					11																	56020105		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020105C>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.430C>T	11.37:g.56020105C>T	ENSP00000305403:p.Leu144Phe		Somatic					p.L144F	NM_001004747.1	NP_001004747.1	WXS	Illumina GAIIx	Phase_I	Q8NGG3	OR5T3_HUMAN			1	430	+	Esophageal squamous(21;0.00448)		144					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.430C>T	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759070	0.31137	.	.	ENSG00000172489	ENST00000303059	T	0.02737	4.18	4.55	1.19	0.21007	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	U	0.000853	T	0.09512	0.0234	M	0.79258	2.445	0.09310	N	1	D	0.57899	0.981	P	0.61592	0.891	T	0.04140	-1.0974	10	0.72032	D	0.01	.	5.683	0.17786	0.2696:0.5658:0.0:0.1646	.	144	Q8NGG3	OR5T3_HUMAN	F	144	ENSP00000305403:L144F	ENSP00000305403:L144F	L	+	1	0	OR5T3	55776681	0.000000	0.05858	0.524000	0.27887	0.344000	0.29017	-3.007000	0.00649	0.566000	0.29273	0.643000	0.83706	CTC		0.403	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		43	91	0	0	0	1	0	43	91					T	56020105	C	T	56020105	3	4	48	1	0	0	0	0	1	0	0	0	11192	913	32	3	432	3	OR5T3	11	56020105	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	93135	56020105	78986411	2703	7171										
OR5T3	390154	broad.mit.edu	37	chr11	56020296	56020296	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccaatgaaattaggcatgtCttttgtgatatgcctcctct	7	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56020296C>A	ENST00000303059.3	+	1	621	c.621C>A	c.(619-621)gtC>gtA	p.V207V		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	207						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)					TTAGGCATGTCTTTTGTGATA	0.408																																						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.(619-621)gtC>gtA		olfactory receptor, family 5, subfamily T, member 3							264	244	251					11																	56020296		2201	4295	6496	SO:0001819	synonymous_variant	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020296C>A	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.621C>A	11.37:g.56020296C>A			Somatic					p.V207V	NM_001004747.1	NP_001004747.1	WXS	Illumina GAIIx	Phase_I	Q8NGG3	OR5T3_HUMAN			1	621	+	Esophageal squamous(21;0.00448)		207					Q6IFC7	Silent	SNP	ENST00000303059.3	37	c.621C>A	CCDS31524.1																																																																																				0.408	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		70	122	1	0	1.26778e-28	1	1.80291e-28	70	122					A	56020296	C	A	56020296	2	1	48	1	0	0	0	0	0	0	0	1	11192	900	32	2		2	OR5T3	11	56020296	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	191	56020296	78986220	2704	7172										
OR5T1	390155	broad.mit.edu	37	chr11	56043431	56043431	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaaaataaatctatttcatTtcttggatgtgcaacacaga	5	6	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56043431T>G	ENST00000313033.2	+	1	403	c.317T>G	c.(316-318)tTt>tGt	p.F106C		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	106						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)					TCTATTTCATTTCTTGGATGT	0.368																																						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.(316-318)tTt>tGt		olfactory receptor, family 5, subfamily T, member 1							149	142	144					11																	56043431		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043431T>G	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.317T>G	11.37:g.56043431T>G	ENSP00000323612:p.Phe106Cys		Somatic					p.F106C	NM_001004745.1	NP_001004745.1	WXS	Illumina GAIIx	Phase_I	Q8NG75	OR5T1_HUMAN			1	403	+	Esophageal squamous(21;0.00448)		106					B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.317T>G	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.368665	0.42003	.	.	ENSG00000181698	ENST00000313033	T	0.00335	8.06	3.44	-0.989	0.10242	GPCR, rhodopsin-like superfamily (1);	0.628530	0.13844	N	0.358845	T	0.00815	0.0027	H	0.94582	3.555	0.09310	N	1	D	0.58970	0.984	P	0.60345	0.873	T	0.27088	-1.0084	10	0.87932	D	0	.	8.3183	0.32113	0.4423:0.0:0.0:0.5577	.	106	Q8NG75	OR5T1_HUMAN	C	106	ENSP00000323612:F106C	ENSP00000323612:F106C	F	+	2	0	OR5T1	55800007	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-1.310000	0.02725	0.046000	0.15833	0.381000	0.24937	TTT		0.368	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		55	53	0	0	0	1	0	55	53					G	56043431	T	G	56043431	3	3	48	1	0	0	0	0	1	0	0	0	11190	1841	64	4	319	4	OR5T1	11	56043431	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	23135	56043431	78963085	2705	7173										
OR5R1	219479	broad.mit.edu	37	chr11	56185045	56185045	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatccttaggatagcggcaaTaataaagatgtaggaggtga	13	4	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56185045T>C	ENST00000312253.1	-	1	663	c.664A>G	c.(664-666)Att>Gtt	p.I222V		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(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)					ATAGCGGCAATAATAAAGATG	0.453																																						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.(664-666)Att>Gtt		olfactory receptor, family 5, subfamily R, member 1							116	104	108					11																	56185045		2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185045T>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.664A>G	11.37:g.56185045T>C	ENSP00000308595:p.Ile222Val		Somatic					p.I222V	NM_001004744.1	NP_001004744.1	WXS	Illumina GAIIx	Phase_I	Q8NH85	OR5R1_HUMAN			1	663	-	Esophageal squamous(21;0.00448)		222						Missense_Mutation	SNP	ENST00000312253.1	37	c.664A>G	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	T	7.470	0.646447	0.14451	.	.	ENSG00000174942	ENST00000312253	T	0.00145	8.67	5.53	0.0656	0.14357	GPCR, rhodopsin-like superfamily (1);	0.330908	0.17129	U	0.185905	T	0.00073	0.0002	N	0.25890	0.77	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.28964	-1.0027	10	0.34782	T	0.22	-7.9112	1.7227	0.02915	0.1076:0.2334:0.2432:0.4158	.	222	Q8NH85	OR5R1_HUMAN	V	222	ENSP00000308595:I222V	ENSP00000308595:I222V	I	-	1	0	OR5R1	55941621	0.000000	0.05858	0.135000	0.22099	0.922000	0.55478	-0.454000	0.06770	0.390000	0.25115	0.472000	0.43445	ATT		0.453	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		33	51	0	0	0	1	0	33	51					C	56185045	T	C	56185045	3	2	48	1	0	0	0	0	1	0	0	0	11189	1406	49	4	312	4	OR5R1	11	56185045	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	141614	56185045	78821471	2706	7174										
OR5M8	219484	broad.mit.edu	37	chr11	56258050	56258050	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccattttaccctgttcaacaGattcctttgaggggggtctg	10	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56258050G>T	ENST00000327216.2	-	1	821	c.797C>A	c.(796-798)tCt>tAt	p.S266Y		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S266C(1)		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)					CTGTTCAACAGATTCCTTTGA	0.378																																						ENST00000327216.2																			1	Substitution - Missense(1)	p.S266C(1)	kidney(1)	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.(796-798)tCt>tAt		olfactory receptor, family 5, subfamily M, member 8							43	48	46					11																	56258050		2201	4295	6496	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258050G>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.797C>A	11.37:g.56258050G>T	ENSP00000323354:p.Ser266Tyr		Somatic					p.S266Y	NM_001005282.1	NP_001005282.1	WXS	Illumina GAIIx	Phase_I	Q8NGP6	OR5M8_HUMAN			1	821	-	Esophageal squamous(21;0.00352)		266					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.797C>A	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.658397	0.29425	.	.	ENSG00000181371	ENST00000327216	T	0.00277	8.34	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38111	U	0.001820	T	0.00754	0.0025	M	0.87381	2.88	0.09310	N	1	D	0.71674	0.998	D	0.70487	0.969	T	0.31364	-0.9946	10	0.87932	D	0	-28.1087	14.6945	0.69110	0.0:0.0:1.0:0.0	.	266	Q8NGP6	OR5M8_HUMAN	Y	266	ENSP00000323354:S266Y	ENSP00000323354:S266Y	S	-	2	0	OR5M8	56014626	0.004000	0.15560	0.891000	0.34965	0.128000	0.20619	1.076000	0.30729	2.104000	0.64026	0.567000	0.79289	TCT		0.378	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		6	41	1	0	0.0381472	1	0.0387537	6	41					T	56258050	G	T	56258050	3	4	48	1	0	0	0	0	1	0	0	0	11185	942	33	2	142	2	OR5M8	11	56258050	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	73005	56258050	78748466	2707	7175										
OR5AP2	338675	broad.mit.edu	37	chr11	56409495	56409495	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaaattctcccagacacgaGaactgggtagagcagggggt	14	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56409495G>A	ENST00000302981.1	-	1	420	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F	OR5AP2_ENST00000544374.1_Missense_Mutation_p.L142F	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CCAGACACGAGAACTGGGTAG	0.488																																						ENST00000544374.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(424-426)Ctc>Ttc		olfactory receptor, family 5, subfamily AP, member 2							66	69	68					11																	56409495		2201	4296	6497	SO:0001583	missense	338675				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56409495G>A	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"GPCR / Class A : Olfactory receptors"	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.421C>T	11.37:g.56409495G>A	ENSP00000303111:p.Leu141Phe		Somatic				OR5AP2_ENST00000302981.1_Missense_Mutation_p.L141F	p.L142F			WXS	Illumina GAIIx	Phase_I	Q8NGF4	O5AP2_HUMAN			1	452	-			141					B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	c.424C>T	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	G	0.408	-0.914538	0.02415	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.01379	4.96;4.96	4.82	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.517985	0.16312	N	0.219973	T	0.01905	0.0060	L	0.55743	1.74	0.21105	N	0.999784	P	0.44946	0.846	B	0.42625	0.393	T	0.46965	-0.9153	10	0.51188	T	0.08	.	5.3851	0.16215	0.0781:0.1119:0.5305:0.2796	.	141	Q8NGF4	O5AP2_HUMAN	F	142;141	ENSP00000442701:L142F;ENSP00000303111:L141F	ENSP00000303111:L141F	L	-	1	0	OR5AP2	56166071	0.000000	0.05858	0.711000	0.30485	0.003000	0.03518	-0.306000	0.08178	0.570000	0.29347	0.637000	0.83480	CTC		0.488	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		18	42	0	0	0	1	0	18	42					A	56409495	G	A	56409495	3	1	48	1	0	0	0	0	1	0	0	0	11153	942	33	3	533	3	OR5AP2	11	56409495	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	151445	56409495	78597021	2708	7176										
LRRC55	219527	broad.mit.edu	37	chr11	56949434	56949434	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccttcctgtgtcacagactCtcgattccatggacacagtc	8	14	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56949434C>A	ENST00000497933.1	+	1	214	c.67C>A	c.(67-69)Ctc>Atc	p.L23I		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0					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						GTCACAGACTCTCGATTCCAT	0.602																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(67-69)Ctc>Atc		leucine rich repeat containing 55							81	63	69					11																	56949434		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56949434C>A		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.67C>A	11.37:g.56949434C>A	ENSP00000419542:p.Leu23Ile		Somatic					p.L23I	NM_001005210.2	NP_001005210.1	WXS	Illumina GAIIx	Phase_I	Q6ZSA7	LRC55_HUMAN			1	214	+			0					A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.67C>A	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.283459	0.23392	.	.	ENSG00000183908	ENST00000497933	T	0.61040	0.14	4.87	2.93	0.34026	.	2.876120	0.01218	N	0.008024	T	0.58133	0.2101	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.52208	-0.8606	7	0.37606	T	0.19	.	12.8164	0.57667	0.0:0.6153:0.3847:0.0	.	.	.	.	I	23	ENSP00000419542:L23I	ENSP00000419542:L23I	L	+	1	0	LRRC55	56706010	0.003000	0.15002	0.032000	0.17829	0.002000	0.02628	0.750000	0.26334	0.700000	0.31782	-0.165000	0.13383	CTC		0.602	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		21	31	1	0	1.01871e-10	1	1.25646e-10	21	31					A	56949434	C	A	56949434	3	1	48	1	0	0	0	0	1	0	0	0	9020	913	32	2	69	2	LRRC55	11	56949434	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	539939	56949434	78057082	2709	7177										
APLNR	187	broad.mit.edu	37	chr11	57003380	57003380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgtaggggatggatttctCgtgcatctgttctccaccct	11	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57003380C>T	ENST00000606794.1	-	1	1295	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	367					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.E367K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						ATGGATTTCTCGTGCATCTGT	0.647																																						ENST00000606794.1																			1	Substitution - Missense(1)	p.E367K(1)	lung(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1099-1101)Gag>Aag		apelin receptor							72	61	65					11																	57003380		2201	4296	6497	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57003380C>T	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"APJ (apelin) receptor"	600052	"angiotensin II receptor-like 1"	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.1099G>A	11.37:g.57003380C>T	ENSP00000475344:p.Glu367Lys		Somatic					p.E367K	NM_005161.4	NP_005152.1	WXS	Illumina GAIIx	Phase_I	P35414	APJ_HUMAN			1	1295	-			367						Missense_Mutation	SNP	ENST00000606794.1	37	c.1099G>A	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258215	0.59321	.	.	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	T	0.69040	-0.37	5.18	5.18	0.71444	Apelin receptor, C-terminal (1);	0.102859	0.38436	N	0.001686	T	0.45074	0.1324	N	0.14661	0.345	0.30944	N	0.725487	P	0.45240	0.854	B	0.29524	0.103	T	0.51663	-0.8677	10	0.27785	T	0.31	-27.0663	18.3106	0.90199	0.0:1.0:0.0:0.0	.	367	P35414	APJ_HUMAN	K	367;248;286	ENSP00000257254:E367K	ENSP00000257254:E367K	E	-	1	0	APLNR	56759956	0.562000	0.26586	0.949000	0.38748	0.902000	0.53008	1.135000	0.31454	2.410000	0.81850	0.655000	0.94253	GAG		0.647	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		21	51	0	0	0	1	0	21	51					T	57003380	C	T	57003380	3	4	48	1	0	0	0	0	1	0	0	0	777	893	31	1	47	1	APLNR	11	57003380	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	53946	57003380	78003136	2710	7178										
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077055	57077055	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttttgccagctgctctggtCtctctgcccgagtgccccat	10	15	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57077055C>A	ENST00000532437.1	-	5	3441	c.3130G>T	c.(3130-3132)Gac>Tac	p.D1044Y	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.D1044Y			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1044	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGCTCTGGTCTCTCTGCCCG	0.652																																						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.(3130-3132)Gac>Tac		tankyrase 1 binding protein 1, 182kDa							88	83	85					11																	57077055		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.chr11:57077055C>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.3130G>T	11.37:g.57077055C>A	ENSP00000437271:p.Asp1044Tyr		Somatic				TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.D1044Y	p.D1044Y			WXS	Illumina GAIIx	Phase_I	Q9C0C2	TB182_HUMAN			5	3441	-		all_epithelial(135;0.21)	1044			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.3130G>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161325	0.57368	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.36520	1.25;1.25	5.05	4.13	0.48395	.	0.282958	0.25014	N	0.033809	T	0.50103	0.1596	M	0.64997	1.995	0.31778	N	0.631296	D	0.69078	0.997	D	0.63192	0.912	T	0.59984	-0.7351	10	0.87932	D	0	-10.0545	7.7397	0.28835	0.0:0.809:0.0:0.191	.	1044	Q9C0C2	TB182_HUMAN	Y	1044	ENSP00000350990:D1044Y;ENSP00000437271:D1044Y	ENSP00000350990:D1044Y	D	-	1	0	TNKS1BP1	56833631	0.004000	0.15560	0.744000	0.31058	0.798000	0.45092	0.827000	0.27421	1.132000	0.42129	0.462000	0.41574	GAC		0.652	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		43	69	1	0	3.05275e-18	1	4.13032e-18	43	69					A	57077055	C	A	57077055	3	1	48	1	0	0	0	0	1	0	0	0	16335	913	32	2	2083	2	TNKS1BP1	11	57077055	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	73675	57077055	77929461	2711	7179										
TMX2	51075	broad.mit.edu	37	chr11	57505465	57505465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttcttccgcttggatattCgcatgggcctactttacatc	7	11	1	0	rs375390370		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57505465C>T	ENST00000278422.4	+	3	343	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	TMX2_ENST00000378312.4_Intron|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	111					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						CTTGGATATTCGCATGGGCCT	0.393																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(331-333)Cgc>Tgc		thioredoxin-related transmembrane protein 2		C	CYS/ARG,	0,4402		0,0,2201	161	147	152		331,	6.2	1	11		152	1,8591	1.2+/-3.3	0,1,4295	no	missense,intron	TMX2	NM_015959.3,NM_001144012.2	180,	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,	111/297,	57505465	1,12993	2201	4296	6497	SO:0001583	missense	51075				cell redox homeostasis	integral to membrane		g.chr11:57505465C>T	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"Protein disulfide isomerases"	30739	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 12"		"thioredoxin domain containing 14"	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.331C>T	11.37:g.57505465C>T	ENSP00000278422:p.Arg111Cys		Somatic				TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Intron	p.R111C	NM_015959.3	NP_057043.1	WXS	Illumina GAIIx	Phase_I	Q9Y320	TMX2_HUMAN			3	343	+			111					B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	c.331C>T	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551138	0.86127	0.0	1.16E-4	ENSG00000213593	ENST00000278422	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	U	0.000000	D	0.84019	0.5380	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83781	0.0225	9	0.62326	D	0.03	-9.8498	20.4549	0.99139	0.0:1.0:0.0:0.0	.	111	Q9Y320	TMX2_HUMAN	C	111	.	ENSP00000278422:R111C	R	+	1	0	TMX2	57262041	0.998000	0.40836	0.998000	0.56505	0.982000	0.71751	3.687000	0.54692	2.937000	0.99478	0.650000	0.86243	CGC		0.393	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		40	61	0	0	0	1	0	40	61					T	57505465	C	T	57505465	3	4	48	1	0	0	0	0	1	0	0	0	16282	884	31	1	341	1	TMX2	11	57505465	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	428410	57505465	77501051	2712	7180										
TMX2	51075	broad.mit.edu	37	chr11	57506209	57506209	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggtctaatgactgccaatCatttgcccctatctatgctg	7	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57506209C>A	ENST00000278422.4	+	5	527	c.515C>A	c.(514-516)tCa>tAa	p.S172*	TMX2_ENST00000378312.4_Nonsense_Mutation_p.S134*|TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000388857.4_5'Flank|C11orf31_ENST00000534355.1_5'Flank	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	172	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						GACTGCCAATCATTTGCCCCT	0.483																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(514-516)tCa>tAa		thioredoxin-related transmembrane protein 2							193	176	182					11																	57506209		2201	4296	6497	SO:0001587	stop_gained	51075				cell redox homeostasis	integral to membrane		g.chr11:57506209C>A	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.515C>A	11.37:g.57506209C>A	ENSP00000278422:p.Ser172*		Somatic				TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Nonsense_Mutation_p.S134*	p.S172*	NM_015959.3	NP_057043.1	WXS	Illumina GAIIx	Phase_I	Q9Y320	TMX2_HUMAN			5	527	+			172			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Nonsense_Mutation	SNP	ENST00000278422.4	37	c.515C>A	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004278	0.74932	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.5434	19.9882	0.97356	0.0:1.0:0.0:0.0	.	.	.	.	X	134;172	.	ENSP00000278422:S172X	S	+	2	0	TMX2	57262785	1.000000	0.71417	0.893000	0.35052	0.997000	0.91878	7.280000	0.78610	2.824000	0.97209	0.655000	0.94253	TCA		0.483	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		48	96	1	0	2.43468e-25	1	3.42684e-25	48	96					A	57506209	C	A	57506209	4	1	48	1	0	0	0	0	0	1	0	0	16282	838	29	2	533	2	TMX2	11	57506209	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	744	57506209	77500307	2713	7181										
CTNND1	1500	broad.mit.edu	37	chr11	57573508	57573508	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggggccaagaagggcaaagGtgagtcttggttcctgtttc	15	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57573508G>A	ENST00000399050.4	+	10	2412		c.e10+1		CTNND1_ENST00000528621.1_Splice_Site|CTNND1_ENST00000428599.2_Splice_Site|CTNND1_ENST00000527467.1_Splice_Site|CTNND1_ENST00000525902.1_Splice_Site|CTNND1_ENST00000529986.1_Splice_Site|CTNND1_ENST00000530748.1_Splice_Site|CTNND1_ENST00000399039.4_Splice_Site|CTNND1_ENST00000529873.1_Splice_Site|CTNND1_ENST00000526938.1_Splice_Site|CTNND1_ENST00000361796.4_Splice_Site|CTNND1_ENST00000361332.4_Splice_Site|CTNND1_ENST00000534579.1_Splice_Site|CTNND1_ENST00000528232.1_Splice_Site|CTNND1_ENST00000533667.1_Splice_Site|CTNND1_ENST00000426142.2_Splice_Site|CTNND1_ENST00000532245.1_Splice_Site|CTNND1_ENST00000530094.1_Splice_Site|CTNND1_ENST00000532463.1_Splice_Site|CTNND1_ENST00000361391.6_Splice_Site|CTNND1_ENST00000529526.1_Splice_Site|CTNND1_ENST00000532649.1_Splice_Site|CTNND1_ENST00000529919.1_Splice_Site|CTNND1_ENST00000415361.2_Splice_Site|CTNND1_ENST00000526772.1_Splice_Site|CTNND1_ENST00000358694.6_Splice_Site|CTNND1_ENST00000532844.1_Splice_Site|CTNND1_ENST00000524630.1_Splice_Site|CTNND1_ENST00000360682.6_Splice_Site|CTNND1_ENST00000526357.1_Splice_Site|CTNND1_ENST00000532787.1_Splice_Site|CTNND1_ENST00000531014.1_Splice_Site	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1						adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAGGGCAAAGGTGAGTCTTGG	0.483																																						ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.e10+1		catenin (cadherin-associated protein), delta 1							88	85	86					11																	57573508		1956	4144	6100	SO:0001630	splice_region_variant	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57573508G>A	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1876+1G>A	11.37:g.57573508G>A			Somatic				CTNND1_ENST00000525902.1_Splice_Site|CTNND1_ENST00000360682.6_Splice_Site|CTNND1_ENST00000531014.1_Splice_Site|CTNND1_ENST00000526938.1_Splice_Site|CTNND1_ENST00000428599.2_Splice_Site|CTNND1_ENST00000533667.1_Splice_Site|CTNND1_ENST00000528232.1_Splice_Site|CTNND1_ENST00000426142.2_Splice_Site|CTNND1_ENST00000529986.1_Splice_Site|CTNND1_ENST00000530094.1_Splice_Site|CTNND1_ENST00000361796.4_Splice_Site|CTNND1_ENST00000532787.1_Splice_Site|CTNND1_ENST00000529919.1_Splice_Site|CTNND1_ENST00000399050.4_Splice_Site|CTNND1_ENST00000532844.1_Splice_Site|CTNND1_ENST00000526357.1_Splice_Site|CTNND1_ENST00000399039.4_Splice_Site|CTNND1_ENST00000532463.1_Splice_Site|CTNND1_ENST00000530748.1_Splice_Site|CTNND1_ENST00000529873.1_Splice_Site|CTNND1_ENST00000532649.1_Splice_Site|CTNND1_ENST00000358694.6_Splice_Site|CTNND1_ENST00000527467.1_Splice_Site|CTNND1_ENST00000529526.1_Splice_Site|CTNND1_ENST00000361391.6_Splice_Site|CTNND1_ENST00000415361.2_Splice_Site|CTNND1_ENST00000526772.1_Splice_Site|CTNND1_ENST00000361332.4_Splice_Site|CTNND1_ENST00000532245.1_Splice_Site|CTNND1_ENST00000528621.1_Splice_Site|CTNND1_ENST00000534579.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	O60716	CTND1_HUMAN			10	2389	+		all_epithelial(135;0.155)						A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Splice_Site	SNP	ENST00000399050.4	37		CCDS44604.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063092	0.76187	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8914	0.96931	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTNND1	57330084	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	9.476000	0.97823	2.813000	0.96785	0.655000	0.94253	.		0.483	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331	Intron	5	11	0	0	0	1	0	5	11					A	57573508	G	A	57573508	5	1	48	1	0	0	0	0	0	0	1	0	4021	1275	44	3	1907	3	CTNND1	11	57573508	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	67299	57573508	77433008	2714	7182										
OR1S2	219958	broad.mit.edu	37	chr11	57971122	57971122	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtggtcacagaagagcaattGaatgagcagaagggtgtgtg	16	4	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57971122G>T	ENST00000302592.6	-	1	531	c.532C>A	c.(532-534)Caa>Aaa	p.Q178K		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AAGAGCAATTGAATGAGCAGA	0.463																																						ENST00000302592.6																			0				endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46						c.(532-534)Caa>Aaa		olfactory receptor, family 1, subfamily S, member 2							259	244	249					11																	57971122		2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57971122G>T	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.532C>A	11.37:g.57971122G>T	ENSP00000305469:p.Gln178Lys		Somatic					p.Q178K	NM_001004459.1	NP_001004459.1	WXS	Illumina GAIIx	Phase_I	Q8NGQ3	OR1S2_HUMAN			1	531	-		Breast(21;0.0589)	178					Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.532C>A	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	G	7.720	0.696925	0.15106	.	.	ENSG00000197887	ENST00000302592	T	0.00063	8.78	4.47	1.43	0.22495	GPCR, rhodopsin-like superfamily (1);	1.046160	0.07660	N	0.933511	T	0.00178	0.0005	L	0.55481	1.735	0.09310	N	1	B	0.29232	0.238	B	0.27076	0.076	T	0.25433	-1.0132	10	0.56958	D	0.05	.	8.2602	0.31779	0.0:0.2835:0.4247:0.2917	.	178	Q8NGQ3	OR1S2_HUMAN	K	178	ENSP00000305469:Q178K	ENSP00000305469:Q178K	Q	-	1	0	OR1S2	57727698	0.000000	0.05858	0.000000	0.03702	0.304000	0.27724	0.097000	0.15168	0.203000	0.20529	0.655000	0.94253	CAA		0.463	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		20	235	1	0	2.48779e-11	1	3.09215e-11	20	235					T	57971122	G	T	57971122	3	4	48	1	0	0	0	0	1	0	0	0	10982	1299	45	2	448	2	OR1S2	11	57971122	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	397614	57971122	77035394	2715	7183										
OR1S2	219958	broad.mit.edu	37	chr11	57971527	57971527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacatacatactcaggaaaaGcacaaagaggaggttttgat	9	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57971527G>T	ENST00000302592.6	-	1	126	c.127C>A	c.(127-129)Ctt>Att	p.L43I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CTCAGGAAAAGCACAAAGAGG	0.453																																						ENST00000302592.6																			0				endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46						c.(127-129)Ctt>Att		olfactory receptor, family 1, subfamily S, member 2							181	172	175					11																	57971527		2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57971527G>T	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"GPCR / Class A : Olfactory receptors"	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.127C>A	11.37:g.57971527G>T	ENSP00000305469:p.Leu43Ile		Somatic					p.L43I	NM_001004459.1	NP_001004459.1	WXS	Illumina GAIIx	Phase_I	Q8NGQ3	OR1S2_HUMAN			1	126	-		Breast(21;0.0589)	43					Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.127C>A	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	G	9.508	1.105099	0.20632	.	.	ENSG00000197887	ENST00000302592	T	0.16457	2.34	4.25	1.15	0.20763	.	0.320705	0.22463	N	0.059730	T	0.11750	0.0286	L	0.41027	1.25	0.18873	N	0.999982	B	0.23591	0.088	B	0.21708	0.036	T	0.20140	-1.0284	10	0.54805	T	0.06	.	4.1225	0.10112	0.1797:0.0:0.4823:0.3381	.	43	Q8NGQ3	OR1S2_HUMAN	I	43	ENSP00000305469:L43I	ENSP00000305469:L43I	L	-	1	0	OR1S2	57728103	0.000000	0.05858	0.616000	0.29078	0.761000	0.43186	-0.501000	0.06398	0.133000	0.18654	0.650000	0.86243	CTT		0.453	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		44	76	1	0	2.2871e-25	1	3.22072e-25	44	76					T	57971527	G	T	57971527	3	4	48	1	0	0	0	0	1	0	0	0	10982	971	34	5	853	5	OR1S2	11	57971527	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	405	57971527	77034989	2716	7184										
OR1S1	219959	broad.mit.edu	37	chr11	57982521	57982521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgaatattcaaaccaagaGtcaatccatctcttatgaga	7	8	3	3	rs148202922		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57982521G>A	ENST00000309433.6	+	1	305	c.305G>A	c.(304-306)aGt>aAt	p.S102N		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	102						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(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CAAACCAAGAGTCAATCCATC	0.428																																						ENST00000309433.6																			0				breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48						c.(304-306)aGt>aAt		olfactory receptor, family 1, subfamily S, member 1		G	ASN/SER	0,4402		0,0,2201	207	198	201		305	2.5	0.8	11	dbSNP_134	201	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR1S1	NM_001004458.1	46	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	102/326	57982521	1,12993	2201	4296	6497	SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982521G>A	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.305G>A	11.37:g.57982521G>A	ENSP00000311688:p.Ser102Asn		Somatic					p.S102N	NM_001004458.1	NP_001004458.1	WXS	Illumina GAIIx	Phase_I	Q8NH92	OR1S1_HUMAN			1	305	+		Breast(21;0.0589)	102					Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	c.305G>A	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	G	0.290	-0.980627	0.02197	0.0	1.16E-4	ENSG00000172774	ENST00000309433	T	0.01981	4.52	3.45	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.104805	0.42172	D	0.000749	T	0.01523	0.0049	N	0.21617	0.685	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.47394	-0.9121	10	0.26408	T	0.33	.	3.2306	0.06747	0.2341:0.2458:0.5201:0.0	.	102	Q8NH92	OR1S1_HUMAN	N	102	ENSP00000311688:S102N	ENSP00000311688:S102N	S	+	2	0	OR1S1	57739097	0.000000	0.05858	0.844000	0.33320	0.081000	0.17604	-0.455000	0.06762	0.628000	0.30357	0.479000	0.44913	AGT		0.428	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		65	105	0	0	0	1	0	65	105					A	57982521	G	A	57982521	3	1	48	1	0	0	0	0	1	0	0	0	10981	1029	36	3	307	3	OR1S1	11	57982521	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	10994	57982521	77023995	2717	7185										
OR1S1	219959	broad.mit.edu	37	chr11	57982748	57982748	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacacacccttctgctcattCaattgctcttctgtaaccac	3	16	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57982748C>A	ENST00000309433.6	+	1	532	c.532C>A	c.(532-534)Caa>Aaa	p.Q178K		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	178						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(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCTGCTCATTCAATTGCTCTT	0.448																																						ENST00000309433.6																			0				breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48						c.(532-534)Caa>Aaa		olfactory receptor, family 1, subfamily S, member 1							214	181	192					11																	57982748		2201	4294	6495	SO:0001583	missense	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982748C>A	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.532C>A	11.37:g.57982748C>A	ENSP00000311688:p.Gln178Lys		Somatic					p.Q178K	NM_001004458.1	NP_001004458.1	WXS	Illumina GAIIx	Phase_I	Q8NH92	OR1S1_HUMAN			1	532	+		Breast(21;0.0589)	178					Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	c.532C>A	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	C	5.691	0.312039	0.10789	.	.	ENSG00000172774	ENST00000309433	T	0.00063	8.78	3.45	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	1.034290	0.07761	N	0.950035	T	0.00144	0.0004	L	0.42581	1.335	0.09310	N	1	B	0.29232	0.238	B	0.30716	0.119	T	0.35773	-0.9775	10	0.56958	D	0.05	.	4.2492	0.10686	0.2281:0.6498:0.0:0.1221	.	178	Q8NH92	OR1S1_HUMAN	K	178	ENSP00000311688:Q178K	ENSP00000311688:Q178K	Q	+	1	0	OR1S1	57739324	0.000000	0.05858	0.005000	0.12908	0.254000	0.26022	-0.823000	0.04443	1.770000	0.52166	0.479000	0.44913	CAA		0.448	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		27	63	1	0	7.63505e-26	1	1.07707e-25	27	63					A	57982748	C	A	57982748	3	1	48	1	0	0	0	0	1	0	0	0	10981	827	29	2	534	2	OR1S1	11	57982748	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	227	57982748	77023768	2718	7186										
OR5B3	441608	broad.mit.edu	37	chr11	58170438	58170438	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaggcattcaggaaaccacAgaggtaggagcctatggcca	14	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58170438A>C	ENST00000309403.2	-	1	444	c.445T>G	c.(445-447)Tgt>Ggt	p.C149G		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, 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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGGAAACCACAGAGGTAGGAG	0.478																																						ENST00000309403.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34						c.(445-447)Tgt>Ggt		olfactory receptor, family 5, subfamily B, member 3							114	104	107					11																	58170438		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170438A>C	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.445T>G	11.37:g.58170438A>C	ENSP00000308270:p.Cys149Gly		Somatic					p.C149G	NM_001005469.1	NP_001005469.1	WXS	Illumina GAIIx	Phase_I	Q8NH48	OR5B3_HUMAN			1	444	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	149					Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.445T>G	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	a	4.120	0.020471	0.08006	.	.	ENSG00000172769	ENST00000309403	T	0.36157	1.27	3.72	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.700151	0.13039	N	0.418663	T	0.16938	0.0407	N	0.11201	0.11	0.09310	N	1	B	0.09022	0.002	B	0.15484	0.013	T	0.17410	-1.0370	10	0.19590	T	0.45	-2.0378	4.6074	0.12385	0.6136:0.1965:0.0:0.1899	.	149	Q8NH48	OR5B3_HUMAN	G	149	ENSP00000308270:C149G	ENSP00000308270:C149G	C	-	1	0	OR5B3	57927014	0.000000	0.05858	0.604000	0.28916	0.665000	0.39181	-1.915000	0.01578	1.703000	0.51240	0.477000	0.44152	TGT		0.478	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		41	72	0	0	0	1	0	41	72					C	58170438	A	C	58170438	3	2	48	1	0	0	0	0	1	0	0	0	11161	188	7	4	501	4	OR5B3	11	58170438	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	187690	58170438	76836078	2719	7187										
OR5B3	441608	broad.mit.edu	37	chr11	58170849	58170849	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcattggttagtcctagaaGaatgaattgtgttacttctg	10	5	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58170849G>T	ENST00000309403.2	-	1	33	c.34C>A	c.(34-36)Ctt>Att	p.L12I		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTCCTAGAAGAATGAATTGT	0.388																																						ENST00000309403.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34						c.(34-36)Ctt>Att		olfactory receptor, family 5, subfamily B, member 3							118	115	116					11																	58170849		2198	4283	6481	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170849G>T	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.34C>A	11.37:g.58170849G>T	ENSP00000308270:p.Leu12Ile		Somatic					p.L12I	NM_001005469.1	NP_001005469.1	WXS	Illumina GAIIx	Phase_I	Q8NH48	OR5B3_HUMAN			1	33	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	12					Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.34C>A	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	g	12.36	1.913328	0.33815	.	.	ENSG00000172769	ENST00000309403	T	0.00561	6.59	4.05	4.05	0.47172	.	0.000000	0.36002	N	0.002856	T	0.02119	0.0066	M	0.85462	2.755	0.09310	N	0.999999	D	0.71674	0.998	D	0.70716	0.97	T	0.14144	-1.0483	10	0.72032	D	0.01	-36.9998	10.6625	0.45710	0.0:0.0:0.8082:0.1918	.	12	Q8NH48	OR5B3_HUMAN	I	12	ENSP00000308270:L12I	ENSP00000308270:L12I	L	-	1	0	OR5B3	57927425	0.967000	0.33354	0.450000	0.26969	0.451000	0.32288	1.857000	0.39399	2.268000	0.75426	0.484000	0.47621	CTT		0.388	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		18	74	1	0	1.56452e-12	1	1.97515e-12	18	74					T	58170849	G	T	58170849	3	4	48	1	0	0	0	0	1	0	0	0	11161	942	33	2	912	2	OR5B3	11	58170849	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	411	58170849	76835667	2720	7188										
ZFP91	80829	broad.mit.edu	37	chr11	58384868	58384868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctggctgccaatgcaggcGccctcatcaccagcacagat	9	16	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58384868G>A	ENST00000316059.6	+	11	1573	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.A468T	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	468					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAATGCAGGCGCCCTCATCAC	0.537																																						ENST00000316059.6																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1402-1404)Gcc>Acc		ZFP91 zinc finger protein							55	50	52					11																	58384868		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58384868G>A	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"Zinc fingers, C2H2-type"	14983	protein-coding gene	gene with protein product			"zinc finger protein homologous to Zfp91 in mouse", "zinc finger protein 91 homolog (mouse)"			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1402G>A	11.37:g.58384868G>A	ENSP00000339030:p.Ala468Thr		Somatic				ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.A468T	p.A468T	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	WXS	Illumina GAIIx	Phase_I	Q96JP5	ZFP91_HUMAN			11	1573	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	468					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.1402G>A	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337103	0.81801	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.12774	2.65	6.16	6.16	0.99307	.	0.221703	0.38897	N	0.001522	T	0.24890	0.0604	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	P;P	0.62298	0.9;0.89	T	0.00575	-1.1663	10	0.23891	T	0.37	-9.8508	19.6313	0.95704	0.0:0.0:1.0:0.0	.	468;468	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	T	468	ENSP00000339030:A468T	ENSP00000374569:A468T	A	+	1	0	ZFP91	58141444	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.541000	0.82084	2.937000	0.99478	0.650000	0.86243	GCC		0.537	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		20	25	0	0	0	1	0	20	25					A	58384868	G	A	58384868	3	1	48	1	0	0	0	0	1	0	0	0	17670	1087	38	1	1444	1	ZFP91	11	58384868	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	214019	58384868	76621648	2721	7189										
GLYAT	10249	broad.mit.edu	37	chr11	58478199	58478199	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaggacttaatggctgcaaGattttgtatagcctcattca	9	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58478199G>A	ENST00000344743.3	-	5	493	c.352C>T	c.(352-354)Ctt>Ttt	p.L118F	GLYAT_ENST00000529732.1_Missense_Mutation_p.L118F|GLYAT_ENST00000278400.3_Missense_Mutation_p.L118F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	118					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	ATGGCTGCAAGATTTTGTATA	0.408																																						ENST00000344743.3																			0				NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(352-354)Ctt>Ttt		glycine-N-acyltransferase	Glycine(DB00145)						161	143	149					11																	58478199		2201	4295	6496	SO:0001583	missense	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58478199G>A	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.352C>T	11.37:g.58478199G>A	ENSP00000340200:p.Leu118Phe		Somatic				GLYAT_ENST00000529732.1_Missense_Mutation_p.L118F|GLYAT_ENST00000278400.3_Missense_Mutation_p.L118F	p.L118F	NM_201648.2	NP_964011.2	WXS	Illumina GAIIx	Phase_I	Q6IB77	GLYAT_HUMAN			5	493	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	118					O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	c.352C>T	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466352	0.26335	.	.	ENSG00000149124	ENST00000344743;ENST00000529732;ENST00000278400	T;T;T	0.18174	2.23;2.23;2.23	5.88	2.94	0.34122	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, N-terminal (1);	0.312987	0.28589	N	0.014813	T	0.18635	0.0447	M	0.67397	2.05	0.28782	N	0.899806	B;P	0.40681	0.241;0.727	B;B	0.42112	0.178;0.376	T	0.07195	-1.0785	10	0.40728	T	0.16	-17.2105	5.2848	0.15696	0.1906:0.2143:0.5951:0.0	.	118;118	Q6IB77-2;Q6IB77	.;GLYAT_HUMAN	F	118	ENSP00000340200:L118F;ENSP00000431688:L118F;ENSP00000278400:L118F	ENSP00000278400:L118F	L	-	1	0	GLYAT	58234775	0.843000	0.29541	0.962000	0.40283	0.089000	0.18198	0.492000	0.22435	0.832000	0.34804	0.655000	0.94253	CTT		0.408	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			35	63	0	0	0	1	0	35	63					A	58478199	G	A	58478199	3	1	48	1	0	0	0	0	1	0	0	0	6487	942	33	3	550	3	GLYAT	11	58478199	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	93331	58478199	76528317	2722	7190										
DTX4	23220	broad.mit.edu	37	chr11	58949740	58949740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggacagcacaggcaccattcGaggcccactgaagaccgccc	11	16	0	2	rs542889400		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58949740G>A	ENST00000227451.3	+	2	844	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	DTX4_ENST00000532982.1_Missense_Mutation_p.R141Q	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	247					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GGCACCATTCGAGGCCCACTG	0.652													G|||	1	0.000199681	0	0.0014	5008	,	,		17675	0		0	False		,,,				2504	0					ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(739-741)cGa>cAa		deltex homolog 4 (Drosophila)							32	44	40					11																	58949740		2106	4233	6339	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58949740G>A	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"RING-type (C3HC4) zinc fingers"	29151	protein-coding gene	gene with protein product			"deltex 4 homolog (Drosophila)", "deltex homolog 4 (Drosophila)"			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.740G>A	11.37:g.58949740G>A	ENSP00000227451:p.Arg247Gln		Somatic				DTX4_ENST00000532982.1_Missense_Mutation_p.R141Q	p.R247Q	NM_015177.1	NP_055992.1	WXS	Illumina GAIIx	Phase_I	Q9Y2E6	DTX4_HUMAN			2	844	+		all_epithelial(135;0.125)	247					Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.740G>A	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	G	4.834	0.154980	0.09236	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.11495	2.77;2.97	4.62	3.71	0.42584	.	0.434461	0.20612	N	0.088949	T	0.09512	0.0234	L	0.60455	1.87	0.29548	N	0.851592	P	0.48998	0.918	B	0.35655	0.207	T	0.13656	-1.0501	10	0.22706	T	0.39	.	10.1958	0.43054	0.0944:0.0:0.9056:0.0	.	247	Q9Y2E6	DTX4_HUMAN	Q	141;247	ENSP00000434055:R141Q;ENSP00000227451:R247Q	ENSP00000227451:R247Q	R	+	2	0	DTX4	58706316	0.134000	0.22483	0.688000	0.30117	0.002000	0.02628	1.148000	0.31614	1.183000	0.42943	-0.137000	0.14449	CGA		0.652	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		14	31	0	0	0	1	0	14	31					A	58949740	G	A	58949740	3	1	48	1	0	0	0	0	1	0	0	0	4799	1058	37	1	746	1	DTX4	11	58949740	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	471541	58949740	76056776	2723	7191										
PATL1	219988	broad.mit.edu	37	chr11	59421459	59421459	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcggatgagtacttaccttCtattctgttgctgtctctga	8	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:59421459C>A	ENST00000300146.9	-	9	1202	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	373	Involved in RNA-binding.|Involved in nuclear foci localization.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TACTTACCTTCTATTCTGTTG	0.388																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(1117-1119)aGa>aTa		protein associated with topoisomerase II homolog 1 (yeast)							156	153	154					11																	59421459		1972	4146	6118	SO:0001583	missense	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59421459C>A	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1118G>T	11.37:g.59421459C>A	ENSP00000300146:p.Arg373Ile		Somatic					p.R373I	NM_152716.2	NP_689929.2	WXS	Illumina GAIIx	Phase_I	Q86TB9	PATL1_HUMAN			9	1202	-			373			Region N; interaction with decapping machinery.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	ENST00000300146.9	37	c.1118G>T	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356968	0.82243	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.51325	0.71	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	L	0.46157	1.445	0.58432	D	0.999994	B;B	0.29909	0.05;0.261	B;B	0.26517	0.028;0.07	T	0.24154	-1.0168	10	0.38643	T	0.18	.	14.4007	0.67044	0.1478:0.8522:0.0:0.0	.	343;373	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	I	373;343	ENSP00000300146:R373I	ENSP00000300146:R373I	R	-	2	0	PATL1	59178035	0.852000	0.29690	0.992000	0.48379	0.945000	0.59286	5.236000	0.65354	2.716000	0.92895	0.655000	0.94253	AGA		0.388	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		32	45	1	0	9.65021e-13	1	1.22324e-12	32	45					A	59421459	C	A	59421459	3	1	48	1	0	0	0	0	1	0	0	0	11484	913	32	2	1238	2	PATL1	11	59421459	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	471719	59421459	75585057	2724	7192										
OR10V1	390201	broad.mit.edu	37	chr11	59480843	59480843	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaagattaaaatggtgagtGgcagtgacaacaggaacccc	13	7	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:59480843G>T	ENST00000307552.2	-	1	494	c.476C>A	c.(475-477)cCa>cAa	p.P159Q	STX3_ENST00000300150.7_5'Flank	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						AATGGTGAGTGGCAGTGACAA	0.532																																						ENST00000307552.2																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						c.(475-477)cCa>cAa		olfactory receptor, family 10, subfamily V, member 1							86	74	78					11																	59480843		2201	4295	6496	SO:0001583	missense	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59480843G>T	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"GPCR / Class A : Olfactory receptors"	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.476C>A	11.37:g.59480843G>T	ENSP00000302199:p.Pro159Gln		Somatic					p.P159Q	NM_001005324.1	NP_001005324.1	WXS	Illumina GAIIx	Phase_I	Q8NGI7	O10V1_HUMAN			1	494	-			159					Q6IFD9|Q96R50	Missense_Mutation	SNP	ENST00000307552.2	37	c.476C>A	CCDS31565.1	.	.	.	.	.	.	.	.	.	.	G	0.752	-0.772480	0.02951	.	.	ENSG00000172289	ENST00000307552	T	0.51325	0.71	4.57	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.396131	0.21546	N	0.072806	T	0.34250	0.0891	L	0.33753	1.03	0.30993	N	0.721146	B	0.25667	0.131	B	0.29353	0.101	T	0.32375	-0.9909	10	0.36615	T	0.2	.	6.7553	0.23510	0.2234:0.0:0.7766:0.0	.	159	Q8NGI7	O10V1_HUMAN	Q	159	ENSP00000302199:P159Q	ENSP00000302199:P159Q	P	-	2	0	OR10V1	59237419	0.000000	0.05858	0.208000	0.23602	0.084000	0.17831	0.226000	0.17776	1.210000	0.43336	-0.420000	0.06012	CCA		0.532	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		5	53	1	0	1	1	1	5	53					T	59480843	G	T	59480843	3	4	48	1	0	0	0	0	1	0	0	0	10929	1348	47	5	457	5	OR10V1	11	59480843	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	59384	59480843	75525673	2725	7193										
TCN1	6947	broad.mit.edu	37	chr11	59620703	59620703	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagtggttcgcctccactcaGaagttcccagtaggttctgt	10	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:59620703G>A	ENST00000257264.3	-	8	1317	c.1213C>T	c.(1213-1215)Ctg>Ttg	p.L405L	TCN1_ENST00000532419.1_5'Flank	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	405	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)	CCTCCACTCAGAAGTTCCCAG	0.522																																						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.(1213-1215)Ctg>Ttg		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						209	203	205					11																	59620703		2201	4295	6496	SO:0001819	synonymous_variant	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59620703G>A	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.1213C>T	11.37:g.59620703G>A			Somatic					p.L405L	NM_001062.3	NP_001053.2	WXS	Illumina GAIIx	Phase_I	P20061	TCO1_HUMAN			8	1317	-		all_epithelial(135;0.198)	405					A8KAC5|Q8WV77	Silent	SNP	ENST00000257264.3	37	c.1213C>T	CCDS7978.1																																																																																				0.522	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		74	133	0	0	0	1	0	74	133					A	59620703	G	A	59620703	2	1	48	1	0	0	0	0	0	0	0	1	15721	933	33	3		3	TCN1	11	59620703	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	139860	59620703	75385813	2726	7194										
PLAC1L	219990	broad.mit.edu	37	chr11	59811081	59811081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atacatacatatgtatatgaGtttatatatcttgttcgtga	6	4	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:59811081G>A	ENST00000278855.2	+	2	389	c.204G>A	c.(202-204)gaG>gaA	p.E68E	PLAC1L_ENST00000532905.1_Silent_p.E37E	NM_173801.3	NP_776162.2	Q86WS3	OOSP2_HUMAN		68						extracellular region (GO:0005576)				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						ATGTATATGAGTTTATATATC	0.368																																						ENST00000278855.2																			0				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						c.(202-204)gaG>gaA									89	86	87					11																	59811081		2201	4295	6496	SO:0001819	synonymous_variant	0					extracellular region		g.chr11:59811081G>A																												ENST00000278855.2:c.204G>A	11.37:g.59811081G>A			Somatic				PLAC1L_ENST00000532905.1_Silent_p.E37E	p.E68E	NM_173801.3	NP_776162.2	WXS	Illumina GAIIx	Phase_I	Q86WS3	PLACL_HUMAN			2	389	+			68					E9PJA4|Q8N9U6	Silent	SNP	ENST00000278855.2	37	c.204G>A	CCDS7979.1																																																																																				0.368	PLAC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394411.1			6	31	0	0	0	1	0	6	31					A	59811081	G	A	59811081	2	1	48	1	0	0	0	0	0	0	0	1	12022	1020	36	3		3	PLAC1L	11	59811081	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	190378	59811081	75195435	2727	7195										
MS4A12	54860	broad.mit.edu	37	chr11	60268548	60268548	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcatggttggattgatgcacAttggttttggaattgttttg	12	3	1	1	rs550483956		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:60268548A>G	ENST00000016913.4	+	3	364	c.307A>G	c.(307-309)Att>Gtt	p.I103V	MS4A12_ENST00000537076.1_Intron	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	103						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						ATTGATGCACATTGGTTTTGG	0.373													A|||	1	0.000199681	0	0	5008	,	,		20908	0		0	False		,,,				2504	0.001					ENST00000016913.4																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						c.(307-309)Att>Gtt		membrane-spanning 4-domains, subfamily A, member 12							292	286	288					11																	60268548		2203	4300	6503	SO:0001583	missense	54860					integral to membrane	receptor activity	g.chr11:60268548A>G	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.307A>G	11.37:g.60268548A>G	ENSP00000016913:p.Ile103Val		Somatic				MS4A12_ENST00000537076.1_Intron	p.I103V	NM_017716.2	NP_060186.2	WXS	Illumina GAIIx	Phase_I	Q9NXJ0	M4A12_HUMAN			3	364	+			103					F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	c.307A>G	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.312270	0.23908	.	.	ENSG00000071203	ENST00000016913;ENST00000530007	T;T	0.53857	4.42;0.6	5.14	-10.3	0.00346	.	0.905711	0.09487	N	0.795553	T	0.34571	0.0902	L	0.39397	1.21	0.20307	N	0.999919	B	0.30179	0.271	B	0.34652	0.187	T	0.21008	-1.0258	10	0.32370	T	0.25	-2.9682	6.4699	0.22003	0.3284:0.2964:0.0:0.3752	.	103	Q9NXJ0	M4A12_HUMAN	V	103	ENSP00000016913:I103V;ENSP00000434783:I103V	ENSP00000016913:I103V	I	+	1	0	MS4A12	60025124	0.293000	0.24371	0.007000	0.13788	0.036000	0.12997	0.220000	0.17660	-1.921000	0.01068	-1.697000	0.00723	ATT		0.373	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			48	124	0	0	0	1	0	48	124					G	60268548	A	G	60268548	3	3	48	1	0	0	0	0	1	0	0	0	9865	217	8	4	313	4	MS4A12	11	60268548	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	457467	60268548	74737968	2728	7196										
MS4A15	219995	broad.mit.edu	37	chr11	60531322	60531322	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catgtgccaacctccagggaTtatgcagtttgaggagccac	11	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:60531322T>G	ENST00000405633.3	+	2	195	c.116T>G	c.(115-117)aTt>aGt	p.I39S	MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Missense_Mutation_p.I39S	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	39						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						CCTCCAGGGATTATGCAGTTT	0.602																																						ENST00000405633.3																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(115-117)aTt>aGt		membrane-spanning 4-domains, subfamily A, member 15							72	74	73					11																	60531322		2022	4158	6180	SO:0001583	missense	219995					integral to membrane	receptor activity	g.chr11:60531322T>G	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.116T>G	11.37:g.60531322T>G	ENSP00000386022:p.Ile39Ser		Somatic				MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Missense_Mutation_p.I39S	p.I39S	NM_001098835.1	NP_001092305.1	WXS	Illumina GAIIx	Phase_I	Q8N5U1	M4A15_HUMAN			2	195	+			39					A9UJY6|A9UJY7|F2Z2J5	Missense_Mutation	SNP	ENST00000405633.3	37	c.116T>G	CCDS44617.1	.	.	.	.	.	.	.	.	.	.	T	2.203	-0.382610	0.04966	.	.	ENSG00000166961	ENST00000528170;ENST00000405633	T;T	0.16597	2.33;2.89	5.21	3.86	0.44501	.	.	.	.	.	T	0.10294	0.0252	N	0.24115	0.695	0.19575	N	0.999968	B;B	0.20887	0.049;0.049	B;B	0.16722	0.016;0.016	T	0.29274	-1.0017	9	0.15499	T	0.54	-9.0747	7.5066	0.27549	0.0:0.1134:0.0:0.8866	.	39;39	F2Z2J5;Q8N5U1	.;M4A15_HUMAN	S	39	ENSP00000434165:I39S;ENSP00000386022:I39S	ENSP00000386022:I39S	I	+	2	0	MS4A15	60287898	0.016000	0.18221	0.642000	0.29436	0.269000	0.26545	0.547000	0.23299	1.946000	0.56461	0.379000	0.24179	ATT		0.602	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			51	95	0	0	0	1	0	51	95					G	60531322	T	G	60531322	3	3	48	1	0	0	0	0	1	0	0	0	9868	1493	52	4	118	4	MS4A15	11	60531322	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	262774	60531322	74475194	2729	7197										
ZP1	22917	broad.mit.edu	37	chr11	60635066	60635066	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcagccacgacctggggttAccctgtggccctgctactgc	11	16	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:60635066A>G	ENST00000278853.5	+	1	32	c.32A>G	c.(31-33)tAc>tGc	p.Y11C		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	11					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACCTGGGGTTACCCTGTGGCC	0.672																																						ENST00000278853.5																			0				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(31-33)tAc>tGc		zona pellucida glycoprotein 1 (sperm receptor)							59	57	58					11																	60635066		2203	4299	6502	SO:0001583	missense	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60635066A>G	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.32A>G	11.37:g.60635066A>G	ENSP00000278853:p.Tyr11Cys		Somatic					p.Y11C	NM_207341.2	NP_997224.2	WXS	Illumina GAIIx	Phase_I	P60852	ZP1_HUMAN			1	32	+			11						Missense_Mutation	SNP	ENST00000278853.5	37	c.32A>G	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	A	6.697	0.497330	0.12762	.	.	ENSG00000149506	ENST00000278853	T	0.21543	2.0	3.6	-7.2	0.01495	.	2.474470	0.01641	N	0.024073	T	0.04634	0.0126	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33033	-0.9884	10	0.26408	T	0.33	1.7487	3.4119	0.07361	0.1076:0.2023:0.5044:0.1857	.	11	P60852	ZP1_HUMAN	C	11	ENSP00000278853:Y11C	ENSP00000278853:Y11C	Y	+	2	0	ZP1	60391642	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-1.479000	0.02327	-2.411000	0.00571	0.164000	0.16699	TAC		0.672	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		11	29	0	0	0	1	0	11	29					G	60635066	A	G	60635066	3	3	48	1	0	0	0	0	1	0	0	0	18230	391	14	4	34	4	ZP1	11	60635066	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	103744	60635066	74371450	2730	7198										
VWCE	220001	broad.mit.edu	37	chr11	61026361	61026361	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggcagaggaggccacctgGacactatctgggccccagag	14	13	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:61026361G>T	ENST00000335613.5	-	20	3040	c.2654C>A	c.(2653-2655)tCc>tAc	p.S885Y	VWCE_ENST00000535710.1_Missense_Mutation_p.S350Y	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	885						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGGCCACCTGGACACTATCTG	0.647																																						ENST00000335613.5																			0				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.(2653-2655)tCc>tAc		von Willebrand factor C and EGF domains							35	39	38					11																	61026361		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61026361G>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.2654C>A	11.37:g.61026361G>T	ENSP00000334186:p.Ser885Tyr		Somatic				VWCE_ENST00000535710.1_Missense_Mutation_p.S350Y	p.S885Y	NM_152718.2	NP_689931.2	WXS	Illumina GAIIx	Phase_I	Q96DN2	VWCE_HUMAN			20	3040	-			885					A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.2654C>A	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435048	0.43224	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.70164	-0.46;3.4	4.37	3.45	0.39498	.	0.391239	0.18958	N	0.126483	T	0.54727	0.1876	L	0.39898	1.24	0.09310	N	1	B	0.33299	0.407	B	0.33750	0.169	T	0.51228	-0.8732	10	0.59425	D	0.04	.	7.599	0.28065	0.1229:0.0:0.8771:0.0	.	885	Q96DN2	VWCE_HUMAN	Y	885;350	ENSP00000334186:S885Y;ENSP00000442570:S350Y	ENSP00000334186:S885Y	S	-	2	0	VWCE	60782937	0.065000	0.20965	0.006000	0.13384	0.003000	0.03518	2.974000	0.49272	0.923000	0.37045	0.561000	0.74099	TCC		0.647	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		20	27	1	0	4.96729e-08	1	5.79844e-08	20	27					T	61026361	G	T	61026361	3	4	48	1	0	0	0	0	1	0	0	0	17260	1174	41	2	217	2	VWCE	11	61026361	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	391295	61026361	73980155	2731	7199										
DDB1	1642	broad.mit.edu	37	chr11	61081881	61081881	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggaggccacactgatgttCttggcctgaggctccttcca	11	13	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:61081881C>A	ENST00000301764.7	-	13	1885	c.1488G>T	c.(1486-1488)aaG>aaT	p.K496N	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'Flank	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	496	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CACTGATGTTCTTGGCCTGAG	0.532								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(1486-1488)aaG>aaT	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							168	157	161					11																	61081881		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61081881C>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1488G>T	11.37:g.61081881C>A	ENSP00000301764:p.Lys496Asn		Somatic				DDB1_ENST00000450997.2_Intron	p.K496N	NM_001923.4	NP_001914.3	WXS	Illumina GAIIx	Phase_I	Q16531	DDB1_HUMAN			13	1885	-			496			Interaction with CDT1.|Interaction with CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.1488G>T	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858191	0.32791	.	.	ENSG00000167986	ENST00000301764;ENST00000537877;ENST00000535967;ENST00000539739	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);	0.044348	0.85682	D	0.000000	T	0.50120	0.1597	M	0.82517	2.595	0.80722	D	1	B	0.22480	0.07	B	0.27170	0.077	T	0.49634	-0.8919	10	0.45353	T	0.12	-28.184	14.5751	0.68240	0.146:0.854:0.0:0.0	.	496	Q16531	DDB1_HUMAN	N	496;60;147;215	ENSP00000301764:K496N;ENSP00000442732:K60N;ENSP00000437713:K147N;ENSP00000445563:K215N	ENSP00000301764:K496N	K	-	3	2	DDB1	60838457	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.137000	0.50562	2.693000	0.91896	0.650000	0.86243	AAG		0.532	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		13	176	1	0	5.50884e-06	1	6.10489e-06	13	176					A	61081881	C	A	61081881	3	1	48	1	0	0	0	0	1	0	0	0	4325	912	32	2	1994	2	DDB1	11	61081881	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	55520	61081881	73924635	2732	7200										
AHNAK	79026	broad.mit.edu	37	chr11	62288113	62288113	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaacttcaggcatagagatCttcggtgccttgaggtgtaa	11	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62288113C>A	ENST00000378024.4	-	5	14050	c.13776G>T	c.(13774-13776)aaG>aaT	p.K4592N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4592					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)				GCATAGAGATCTTCGGTGCCT	0.498																																						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.(13774-13776)aaG>aaT		AHNAK nucleoprotein							103	103	103					11																	62288113		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62288113C>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.13776G>T	11.37:g.62288113C>A	ENSP00000367263:p.Lys4592Asn		Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.K4592N	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	14050	-		Melanoma(852;0.155)	4592					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13776G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487670	0.44249	.	.	ENSG00000124942	ENST00000378024	T	0.01397	4.94	5.43	2.53	0.30540	.	0.122178	0.56097	D	0.000039	T	0.03959	0.0111	M	0.83852	2.665	0.31530	N	0.661305	D	0.58268	0.982	P	0.50708	0.648	T	0.11036	-1.0604	10	0.66056	D	0.02	.	5.0887	0.14696	0.1459:0.6235:0.0:0.2306	.	4592	Q09666	AHNK_HUMAN	N	4592	ENSP00000367263:K4592N	ENSP00000367263:K4592N	K	-	3	2	AHNAK	62044689	0.000000	0.05858	1.000000	0.80357	0.834000	0.47266	-1.251000	0.02882	0.273000	0.22049	-0.809000	0.03173	AAG		0.498	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		36	53	1	0	4.65686e-17	1	6.22576e-17	36	53					A	62288113	C	A	62288113	3	1	48	1	0	0	0	0	1	0	0	0	414	912	32	2	4016	2	AHNAK	11	62288113	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1206232	62288113	72718403	2733	7201										
AHNAK	79026	broad.mit.edu	37	chr11	62290081	62290081	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcatgctgatcttgggcatTtttatcttaggcatcttcag	10	8	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62290081T>C	ENST00000378024.4	-	5	12082	c.11808A>G	c.(11806-11808)aaA>aaG	p.K3936K	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3936					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)				TCTTGGGCATTTTTATCTTAG	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.(11806-11808)aaA>aaG		AHNAK nucleoprotein							227	241	236					11																	62290081		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62290081T>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.11808A>G	11.37:g.62290081T>C			Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.K3936K	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	12082	-		Melanoma(852;0.155)	3936					A1A586	Silent	SNP	ENST00000378024.4	37	c.11808A>G	CCDS31584.1																																																																																				0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		137	212	0	0	0	1	0	137	212					C	62290081	T	C	62290081	2	2	48	1	0	0	0	0	0	0	0	1	414	1838	64	4		4	AHNAK	11	62290081	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1968	62290081	72716435	2734	7202										
AHNAK	79026	broad.mit.edu	37	chr11	62290790	62290790	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtccacctcagggccttttAgatcaccttccactttgggc	8	14	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62290790A>C	ENST00000378024.4	-	5	11373	c.11099T>G	c.(11098-11100)cTa>cGa	p.L3700R	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3700					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)				AGGGCCTTTTAGATCACCTTC	0.483																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(11098-11100)cTa>cGa		AHNAK nucleoprotein							176	179	178					11																	62290790		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62290790A>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.11099T>G	11.37:g.62290790A>C	ENSP00000367263:p.Leu3700Arg		Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L3700R	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	11373	-		Melanoma(852;0.155)	3700					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.11099T>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	12.98	2.100105	0.37048	.	.	ENSG00000124942	ENST00000378024	T	0.01406	4.93	4.69	4.69	0.59074	.	2.430730	0.02474	N	0.087840	T	0.12050	0.0293	H	0.96489	3.83	0.09310	N	1	P	0.51537	0.946	P	0.50896	0.653	T	0.51973	-0.8637	10	0.36615	T	0.2	.	14.1173	0.65161	1.0:0.0:0.0:0.0	.	3700	Q09666	AHNK_HUMAN	R	3700	ENSP00000367263:L3700R	ENSP00000367263:L3700R	L	-	2	0	AHNAK	62047366	0.872000	0.30054	0.002000	0.10522	0.003000	0.03518	8.006000	0.88564	1.874000	0.54306	0.472000	0.43445	CTA		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		97	174	0	0	0	1	0	97	174					C	62290790	A	C	62290790	3	2	48	1	0	0	0	0	1	0	0	0	414	420	15	4	6693	4	AHNAK	11	62290790	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	709	62290790	72715726	2735	7203										
MTA2	9219	broad.mit.edu	37	chr11	62364120	62364120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccacttacaaaatcctggcGaatatcattgaagtccttcc	5	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62364120G>A	ENST00000278823.2	-	9	1260	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	MTA2_ENST00000524902.1_Missense_Mutation_p.R118C|MTA2_ENST00000527204.1_Missense_Mutation_p.R118C	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	291	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AAATCCTGGCGAATATCATTG	0.542																																						ENST00000278823.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						c.(871-873)Cgc>Tgc		metastasis associated 1 family, member 2							97	97	97					11																	62364120		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62364120G>A	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"GATA zinc finger domain containing"	7411	protein-coding gene	gene with protein product		603947	"metastasis associated gene family, member 2"	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.871C>T	11.37:g.62364120G>A	ENSP00000278823:p.Arg291Cys		Somatic				MTA2_ENST00000524902.1_Missense_Mutation_p.R118C|MTA2_ENST00000527204.1_Missense_Mutation_p.R118C	p.R291C	NM_004739.3	NP_004730.2	WXS	Illumina GAIIx	Phase_I	O94776	MTA2_HUMAN			9	1260	-			291			SANT.		Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.871C>T	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.655824	0.67586	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.43688	0.94;0.94;0.94	5.69	5.69	0.88448	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.65729	0.2719	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.68307	-0.5443	10	0.87932	D	0	-13.5433	17.2949	0.87168	0.0:0.0:1.0:0.0	.	291	O94776	MTA2_HUMAN	C	291;118;118	ENSP00000278823:R291C;ENSP00000431346:R118C;ENSP00000431797:R118C	ENSP00000278823:R291C	R	-	1	0	MTA2	62120696	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.894000	0.87336	2.679000	0.91253	0.561000	0.74099	CGC		0.542	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		31	53	0	0	0	1	0	31	53					A	62364120	G	A	62364120	3	1	48	1	0	0	0	0	1	0	0	0	9918	1058	37	1	1175	1	MTA2	11	62364120	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	73330	62364120	72642396	2736	7204										
EML3	256364	broad.mit.edu	37	chr11	62374545	62374545	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccggaaggaacacaaagcaAgggataaacttgggtttctt	11	7	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62374545A>C	ENST00000394773.2	-	12	1696	c.1389T>G	c.(1387-1389)ccT>ccG	p.P463P	EML3_ENST00000531557.1_Silent_p.P246P|EML3_ENST00000278845.4_Silent_p.P464P|EML3_ENST00000494176.2_Silent_p.P435P|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000529309.1_Silent_p.P463P|EML3_ENST00000438258.1_5'UTR	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	463						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						ACACAAAGCAAGGGATAAACT	0.527																																						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.(1387-1389)ccT>ccG		echinoderm microtubule associated protein like 3							81	85	84					11																	62374545		2202	4299	6501	SO:0001819	synonymous_variant	256364					cytoplasm|microtubule	protein binding	g.chr11:62374545A>C	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.1389T>G	11.37:g.62374545A>C			Somatic				EML3_ENST00000278845.4_Silent_p.P464P|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000531557.1_Silent_p.P246P|EML3_ENST00000494176.2_Silent_p.P435P|EML3_ENST00000529309.1_Silent_p.P463P	p.P463P	NM_153265.2	NP_694997.2	WXS	Illumina GAIIx	Phase_I	Q32P44	EMAL3_HUMAN			12	1696	-			463					Q6ZQW7|Q8NA55	Silent	SNP	ENST00000394773.2	37	c.1389T>G	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	A	9.460	1.092887	0.20471	.	.	ENSG00000149499	ENST00000394776	.	.	.	5.22	-2.05	0.07321	.	.	.	.	.	T	0.39436	0.1078	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28618	-1.0038	4	.	.	.	-6.7036	1.7102	0.02891	0.2135:0.3016:0.3377:0.1473	.	.	.	.	V	458	.	.	L	-	1	2	EML3	62131121	0.987000	0.35691	0.993000	0.49108	0.797000	0.45037	0.345000	0.19979	-0.282000	0.09128	-0.522000	0.04353	TTG		0.527	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		25	58	0	0	0	1	0	25	58					C	62374545	A	C	62374545	2	2	48	1	0	0	0	0	0	0	0	1	5100	59	3	4		4	EML3	11	62374545	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	10425	62374545	72631971	2737	7205										
SLC22A25	387601	broad.mit.edu	37	chr11	62996981	62996981	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccagtatatgaacccagcaGcgatgatcaagtatgaatgc	9	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62996981G>A	ENST00000306494.6	-	1	143	c.144C>T	c.(142-144)cgC>cgT	p.R48R	SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000403374.2_5'Flank|SLC22A10_ENST00000525620.1_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						GAACCCAGCAGCGATGATCAA	0.463																																						ENST00000306494.6																			0				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						c.(142-144)cgC>cgT		solute carrier family 22, member 25							158	147	151					11																	62996981		2201	4298	6499	SO:0001819	synonymous_variant	387601				transmembrane transport	integral to membrane		g.chr11:62996981G>A	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.144C>T	11.37:g.62996981G>A			Somatic				SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	p.R48R	NM_199352.3	NP_955384.3	WXS	Illumina GAIIx	Phase_I	Q6T423	S22AP_HUMAN			1	143	-			48						Silent	SNP	ENST00000306494.6	37	c.144C>T	CCDS31592.1																																																																																				0.463	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		42	55	0	0	0	1	0	42	55					A	62996981	G	A	62996981	2	1	48	1	0	0	0	0	0	0	0	1	14469	958	34	3		3	SLC22A25	11	62996981	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	622436	62996981	72009535	2738	7206										
HRASLS5	117245	broad.mit.edu	37	chr11	63235894	63235894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccagtgctcatagccaattCgaaaaatctcaatcaggtct	6	12	4	0	rs370401429		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:63235894C>T	ENST00000301790.4	-	4	578	c.419G>A	c.(418-420)cGa>cAa	p.R140Q	HRASLS5_ENST00000540857.1_Missense_Mutation_p.R130Q|HRASLS5_ENST00000539221.1_Missense_Mutation_p.R140Q			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	140							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						ATAGCCAATTCGAAAAATCTC	0.423																																						ENST00000540857.1																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(388-390)cGa>cAa		HRAS-like suppressor family, member 5		C	GLN/ARG,GLN/ARG,GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	139	135	136		419,389,419	4.4	1	11		136	0,8596		0,0,4298	no	missense,missense,missense	HRASLS5	NM_001146728.1,NM_001146729.1,NM_054108.3	43,43,43	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	140/254,130/270,140/280	63235894	1,12997	2201	4298	6499	SO:0001583	missense	117245							g.chr11:63235894C>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.419G>A	11.37:g.63235894C>T	ENSP00000301790:p.Arg140Gln		Somatic				HRASLS5_ENST00000301790.4_Missense_Mutation_p.R140Q|HRASLS5_ENST00000539221.1_Missense_Mutation_p.R140Q	p.R130Q	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	WXS	Illumina GAIIx	Phase_I	Q96KN8	HRSL5_HUMAN			4	521	-			140					B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.389G>A	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042829	0.93685	2.27E-4	0.0	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.44083	0.93;0.93;0.93	4.37	4.37	0.52481	.	0.000000	0.64402	D	0.000002	T	0.63129	0.2485	M	0.77313	2.365	0.38295	D	0.942817	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.992;0.995;0.997	T	0.66929	-0.5799	10	0.48119	T	0.1	-12.0569	12.7263	0.57173	0.0:1.0:0.0:0.0	.	140;130;140	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	Q	130;140;140	ENSP00000444809:R130Q;ENSP00000443873:R140Q;ENSP00000301790:R140Q	ENSP00000301790:R140Q	R	-	2	0	HRASLS5	62992470	0.997000	0.39634	0.997000	0.53966	0.981000	0.71138	4.291000	0.59025	2.715000	0.92844	0.561000	0.74099	CGA		0.423	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		4	90	0	0	0	1	0	4	90					T	63235894	C	T	63235894	3	4	48	1	0	0	0	0	1	0	0	0	7360	884	31	1	432	1	HRASLS5	11	63235894	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	238913	63235894	71770622	2739	7207										
NRXN2	9379	broad.mit.edu	37	chr11	64374680	64374680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgggggctcagacataataCtccttgtctttgttcttctt	8	11	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:64374680C>A	ENST00000377551.1	-	22	5338	c.5127G>T	c.(5125-5127)gaG>gaT	p.E1709D	NRXN2_ENST00000377559.3_Missense_Mutation_p.E1639D|NRXN2_ENST00000265459.6_Missense_Mutation_p.E1709D|NRXN2_ENST00000301894.2_Missense_Mutation_p.E663D|NRXN2_ENST00000409571.1_Missense_Mutation_p.E1702D			Q9P2S2	NRX2A_HUMAN	neurexin 2	1709					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						AGACATAATACTCCTTGTCTT	0.662																																						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.(5125-5127)gaG>gaT		neurexin 2							38	46	43					11																	64374680		2201	4296	6497	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64374680C>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.5127G>T	11.37:g.64374680C>A	ENSP00000366774:p.Glu1709Asp		Somatic				NRXN2_ENST00000377551.1_Missense_Mutation_p.E1709D|NRXN2_ENST00000301894.2_Missense_Mutation_p.E663D|NRXN2_ENST00000409571.1_Missense_Mutation_p.E1702D|NRXN2_ENST00000377559.3_Missense_Mutation_p.E1639D	p.E1709D	NM_015080.3	NP_055895.1	WXS	Illumina GAIIx	Phase_I	Q9P2S2	NRX2A_HUMAN			23	5588	-			1709					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.5127G>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823777	0.50739	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;D;D;D;D	0.84944	-1.01;-1.67;-1.92;-1.67;-1.54	4.45	3.46	0.39613	.	0.292228	0.18917	U	0.127599	D	0.90079	0.6901	M	0.69358	2.11	0.46416	D	0.999036	D;P;D;D	0.71674	0.998;0.877;0.996;0.998	D;P;D;D	0.81914	0.995;0.469;0.989;0.992	D	0.90311	0.4337	10	0.87932	D	0	.	10.7969	0.46466	0.1903:0.8097:0.0:0.0	.	1639;1709;1455;663	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	D	663;1709;1639;1709;1639;1702	ENSP00000301894:E663D;ENSP00000366774:E1709D;ENSP00000366782:E1639D;ENSP00000265459:E1709D;ENSP00000386416:E1702D	ENSP00000265459:E1709D	E	-	3	2	NRXN2	64131256	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	1.382000	0.34374	2.029000	0.59856	0.305000	0.20034	GAG		0.662	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		11	25	1	0	0.010729	1	0.0110271	11	25					A	64374680	C	A	64374680	3	1	48	1	0	0	0	0	1	0	0	0	10675	564	20	5	15	5	NRXN2	11	64374680	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1138786	64374680	70631836	2740	7208										
PYGM	5837	broad.mit.edu	37	chr11	64527344	64527344	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acactgatttgctttcttttCtcttggtctgacaggggccg	10	10	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:64527344C>A	ENST00000164139.3	-	1	425	c.27G>T	c.(25-27)gaG>gaT	p.E9D	PYGM_ENST00000377432.3_Missense_Mutation_p.E9D	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	9					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						GCTTTCTTTTCTCTTGGTCTG	0.597																																						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.(25-27)gaG>gaT		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						107	103	104					11																	64527344		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64527344C>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.27G>T	11.37:g.64527344C>A	ENSP00000164139:p.Glu9Asp		Somatic				PYGM_ENST00000377432.3_Missense_Mutation_p.E9D	p.E9D	NM_005609.2	NP_005600.1	WXS	Illumina GAIIx	Phase_I	P11217	PYGM_HUMAN			1	425	-			9					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.27G>T	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950208	0.34377	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.93763	-3.13;-3.28	5.41	-4.43	0.03568	.	0.310111	0.27836	N	0.017652	T	0.79678	0.4487	N	0.11651	0.15	0.40176	D	0.977231	B;B	0.06786	0.001;0.001	B;B	0.12837	0.002;0.008	T	0.55315	-0.8160	10	0.26408	T	0.33	-15.2733	5.0065	0.14291	0.2756:0.243:0.4097:0.0717	.	9;9	A6NDY6;P11217	.;PYGM_HUMAN	D	9	ENSP00000366650:E9D;ENSP00000164139:E9D	ENSP00000164139:E9D	E	-	3	2	PYGM	64283920	0.156000	0.22821	0.948000	0.38648	0.630000	0.37929	-0.521000	0.06245	-0.778000	0.04566	-0.175000	0.13238	GAG		0.597	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		41	90	1	0	4.67007e-22	1	6.4791e-22	41	90					A	64527344	C	A	64527344	3	1	48	1	0	0	0	0	1	0	0	0	12877	912	32	2	2581	2	PYGM	11	64527344	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	152664	64527344	70479172	2741	7209										
C11orf2	738	broad.mit.edu	37	chr11	64876790	64876790	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgtccgtgagggcctcatCgtgggcttcgtccactctat	13	12	2	1	rs147241001		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:64876790C>T	ENST00000279281.3	+	6	1574	c.1482C>T	c.(1480-1482)atC>atT	p.I494I	AP003068.9_ENST00000528887.1_RNA|VPS51_ENST00000527646.1_3'UTR|TM7SF2_ENST00000540748.1_5'Flank|TM7SF2_ENST00000279263.7_5'Flank|TM7SF2_ENST00000345348.5_5'Flank	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	494					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											AGGGCCTCATCGTGGGCTTCG	0.617																																						ENST00000279281.3																			0											c.(1480-1482)atC>atT		vacuolar protein sorting 51 homolog (S. cerevisiae)							91	87	88					11																	64876790		2201	4297	6498	SO:0001819	synonymous_variant	738							g.chr11:64876790C>T	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"fat-free homolog (zebrafish)"	615738	"chromosome 11 open reading frame 3", "chromosome 11 open reading frame 2"	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.1482C>T	11.37:g.64876790C>T			Somatic				VPS51_ENST00000527646.1_3'UTR	p.I494I	NM_013265.2	NP_037397.2	WXS	Illumina GAIIx	Phase_I					6	1574	+								Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Silent	SNP	ENST00000279281.3	37	c.1482C>T	CCDS8093.1																																																																																				0.617	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265		23	35	0	0	0	1	0	23	35					T	64876790	C	T	64876790	2	4	48	1	0	0	0	0	0	0	0	1	1635	874	31	1		1	C11orf2	11	64876790	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	349446	64876790	70129726	2742	7210										
DPF2	5977	broad.mit.edu	37	chr11	65116351	65116351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttctgtgatgactgcgatCgtggctaccacatgtactgt	10	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:65116351C>T	ENST00000528416.1	+	10	1181	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	DPF2_ENST00000252268.4_Missense_Mutation_p.R364C|DPF2_ENST00000415073.2_Missense_Mutation_p.R166C	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	350					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGACTGCGATCGTGGCTACCA	0.488																																						ENST00000528416.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						c.(1048-1050)Cgt>Tgt		D4, zinc and double PHD fingers family 2							222	178	193					11																	65116351		2201	4297	6498	SO:0001583	missense	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65116351C>T	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"Zinc fingers, PHD-type"	9964	protein-coding gene	gene with protein product		601671	"requiem, apoptosis response zinc finger gene"	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.1048C>T	11.37:g.65116351C>T	ENSP00000436901:p.Arg350Cys		Somatic				DPF2_ENST00000252268.4_Missense_Mutation_p.R364C|DPF2_ENST00000415073.2_Missense_Mutation_p.R166C	p.R350C	NM_006268.4	NP_006259.1	WXS	Illumina GAIIx	Phase_I	Q92785	REQU_HUMAN			10	1181	+			350					A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	c.1048C>T	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449623	0.84101	.	.	ENSG00000133884	ENST00000528416;ENST00000415073;ENST00000252268;ENST00000531989	D;T;D;T	0.85484	-1.99;0.41;-1.99;0.41	5.7	5.7	0.88788	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.38381	N	0.001704	D	0.93334	0.7875	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.963	D	0.94032	0.7302	10	0.87932	D	0	-16.1324	17.3282	0.87255	0.0:1.0:0.0:0.0	.	166;350	B4DT58;Q92785	.;REQU_HUMAN	C	350;166;364;75	ENSP00000436901:R350C;ENSP00000399714:R166C;ENSP00000252268:R364C;ENSP00000435887:R75C	ENSP00000252268:R364C	R	+	1	0	DPF2	64872927	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	3.725000	0.54970	2.696000	0.92011	0.561000	0.74099	CGT		0.488	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		23	40	0	0	0	1	0	23	40					T	65116351	C	T	65116351	3	4	48	1	0	0	0	0	1	0	0	0	4719	884	31	1	1086	1	DPF2	11	65116351	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	239561	65116351	69890165	2743	7211										
PELI3	246330	broad.mit.edu	37	chr11	66239872	66239872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtggtcagcacagcatctcGtatacactgtcccggagcca	10	14	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:66239872G>A	ENST00000320740.7	+	5	547	c.387G>A	c.(385-387)tcG>tcA	p.S129S	CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000524466.1_Silent_p.S129S|CTD-3074O7.5_ENST00000602951.1_RNA|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000349459.6_Silent_p.S105S	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	129					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						ACAGCATCTCGTATACACTGT	0.532																																						ENST00000349459.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						c.(313-315)tcG>tcA		pellino E3 ubiquitin protein ligase family member 3							203	153	170					11																	66239872		2200	4295	6495	SO:0001819	synonymous_variant	246330					cytosol	protein binding	g.chr11:66239872G>A	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"Pellino homologs"	30010	protein-coding gene	gene with protein product		609827	"pellino homolog 3 (Drosophila)"			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.387G>A	11.37:g.66239872G>A			Somatic				PELI3_ENST00000531856.1_Intron|PELI3_ENST00000524466.1_Silent_p.S129S|PELI3_ENST00000320740.7_Silent_p.S129S	p.S105S	NM_001098510.1	NP_001091980.1	WXS	Illumina GAIIx	Phase_I	Q8N2H9	PELI3_HUMAN			4	599	+			129					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	ENST00000320740.7	37	c.315G>A	CCDS31615.1																																																																																				0.532	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		31	64	0	0	0	1	0	31	64					A	66239872	G	A	66239872	2	1	48	1	0	0	0	0	0	0	0	1	11732	1132	40	1		1	PELI3	11	66239872	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1123521	66239872	68766644	2744	7212										
DPP3	10072	broad.mit.edu	37	chr11	66259175	66259175	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttctctcccccagttacatCgggttcatcgagagctaccg	8	15	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:66259175C>T	ENST00000360510.2	+	9	1001	c.936C>T	c.(934-936)atC>atT	p.I312I	DPP3_ENST00000530165.1_Silent_p.I282I|DPP3_ENST00000532677.1_Silent_p.I331I|DPP3_ENST00000531863.1_Silent_p.I332I|DPP3_ENST00000541961.1_Silent_p.I312I|DPP3_ENST00000453114.1_Silent_p.I312I			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	312					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CCAGTTACATCGGGTTCATCG	0.622																																						ENST00000532677.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(991-993)atC>atT		dipeptidyl-peptidase 3							134	136	135					11																	66259175		2200	4295	6495	SO:0001819	synonymous_variant	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66259175C>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.936C>T	11.37:g.66259175C>T			Somatic				DPP3_ENST00000360510.2_Silent_p.I312I|DPP3_ENST00000453114.1_Silent_p.I312I|DPP3_ENST00000541961.1_Silent_p.I312I|DPP3_ENST00000530165.1_Silent_p.I282I|DPP3_ENST00000531863.1_Silent_p.I332I	p.I331I	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	1394	+			312					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	ENST00000360510.2	37	c.993C>T	CCDS8141.1																																																																																				0.622	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			65	128	0	0	0	1	0	65	128					T	66259175	C	T	66259175	2	4	48	1	0	0	0	0	0	0	0	1	4730	874	31	1		1	DPP3	11	66259175	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	19303	66259175	68747341	2745	7213										
ACTN3	89	broad.mit.edu	37	chr11	66319048	66319048	+	RNA	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagatgcgcttccacaaaatCgccaacgttaacaaggccct	7	13	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:66319048C>A	ENST00000502692.1	+	0	557				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TCCACAAAATCGCCAACGTTA	0.547																																						ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)							70	73	72					11																	66319048		2160	4282	6442			89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66319048C>A	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"actinin, alpha 3"			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66319048C>A			Somatic				ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	WXS	Illumina GAIIx	Phase_I	Q08043	ACTN3_HUMAN			0	409	+								A6NP77|Q4KKV2	RNA	SNP	ENST00000502692.1	37																																																																																						0.547	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		26	34	1	0	8.24728e-16	1	1.09065e-15	26	34					A	66319048	C	A	66319048	1	1	48	0	1	0	0	0	0	0	0	0	206	874	31	2		2	ACTN3	11	66319048	RNA	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	59873	66319048	68687468	2746	7214										
CTSF	8722	broad.mit.edu	37	chr11	66335859	66335859	+	Frame_Shift_Del	DEL	C	C	-													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcagctccggggacggcggCccccaggcctgaaagctggc							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:66335859delC	ENST00000310325.5	-	1	208	c.99delG	c.(97-99)gggfs	p.G33fs	CTSF_ENST00000533168.1_5'Flank	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	33					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGACGGCGGCCCCCAGGCCT	0.781																																						ENST00000310325.5																			0				endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(97-99)ggfs		cathepsin F							1	1	1					11																	66335859		429	1257	1686	SO:0001589	frameshift_variant	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66335859delC	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"Cathepsins"	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.99delG	11.37:g.66335859delC	ENSP00000310832:p.Gly33fs		Somatic					p.G33fs	NM_003793.3	NP_003784.2	WXS	Illumina GAIIx	Phase_I	Q9UBX1	CATF_HUMAN			1	208	-			33					B2R964|O95240|Q9NSU4|Q9UKQ5	Frame_Shift_Del	DEL	ENST00000310325.5	37	c.99delG	CCDS8144.1																																																																																				0.781	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		2	4						2	4	---	---	---	---	-	66335859	C	-	66335859	7	5	48	1	0	1	0	1	0	0	0	0	4036	726	26	0	1407	0	CTSF	11	66335859	Frame_Shift_Del	DEL	C	TCGA-ND-A4WC-01A-21D-A28R-08	16811	66335859	68670657	2747	7215										
ADRBK1	156	broad.mit.edu	37	chr11	67049829	67049829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctccaagaagaagccccatGccagcgtgtgagtgcccccc	10	16	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:67049829G>A	ENST00000308595.5	+	12	1335	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T	ADRBK1_ENST00000527176.1_Intron|ADRBK1_ENST00000526285.1_Missense_Mutation_p.A349T	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	349	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	GAAGCCCCATGCCAGCGTGTG	0.652																																						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.(1045-1047)Gcc>Acc		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						66	66	66					11																	67049829		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.chr11:67049829G>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.1045G>A	11.37:g.67049829G>A	ENSP00000312262:p.Ala349Thr		Somatic				ADRBK1_ENST00000527176.1_Intron|ADRBK1_ENST00000526285.1_Missense_Mutation_p.A349T	p.A349T	NM_001619.3	NP_001610.2	WXS	Illumina GAIIx	Phase_I	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		12	1335	+			349			Protein kinase.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.1045G>A	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140226	0.94560	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.20598	2.06;2.06	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	0.64402	D	0.000011	T	0.19967	0.0480	N	0.03881	-0.34	0.58432	D	0.99999	B;D	0.53619	0.305;0.961	B;P	0.56343	0.12;0.796	T	0.30851	-0.9964	10	0.19147	T	0.46	-2.8766	19.5148	0.95159	0.0:0.0:1.0:0.0	.	349;349	P25098;E9PRV7	ARBK1_HUMAN;.	T	349	ENSP00000312262:A349T;ENSP00000434126:A349T	ENSP00000312262:A349T	A	+	1	0	ADRBK1	66806405	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.582000	0.82546	2.688000	0.91661	0.655000	0.94253	GCC		0.652	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		39	54	0	0	0	1	0	39	54					A	67049829	G	A	67049829	3	1	48	1	0	0	0	0	1	0	0	0	343	1319	46	3	1091	3	ADRBK1	11	67049829	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	713970	67049829	67956687	2748	7216										
GPR152	390212	broad.mit.edu	37	chr11	67219701	67219701	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcctcggggaagaccagccaGggcacgctgaagagtgtggc	17	11	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:67219701G>A	ENST00000312457.2	-	1	499	c.495C>T	c.(493-495)ccC>ccT	p.P165P	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGACCAGCCAGGGCACGCTGA	0.677																																					Pancreas(102;800 1581 2723 7382 33622)	ENST00000312457.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(493-495)ccC>ccT		G protein-coupled receptor 152							47	56	53					11																	67219701		2200	4295	6495	SO:0001819	synonymous_variant	390212					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:67219701G>A	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"GPCR / Class A : Orphans"	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.495C>T	11.37:g.67219701G>A			Somatic					p.P165P	NM_206997.1	NP_996880.1	WXS	Illumina GAIIx	Phase_I	Q8TDT2	GP152_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	499	-			165					Q0VD88|Q86SM0	Silent	SNP	ENST00000312457.2	37	c.495C>T	CCDS8165.1																																																																																				0.677	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			14	96	0	0	0	1	0	14	96					A	67219701	G	A	67219701	2	1	48	1	0	0	0	0	0	0	0	1	6666	987	35	3		3	GPR152	11	67219701	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	169872	67219701	67786815	2749	7217										
TBX10	347853	broad.mit.edu	37	chr11	67400485	67400485	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagatgaaggacttgaagttCtcctgggcatagcgctcact	11	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:67400485C>T	ENST00000335385.3	-	5	726	c.639G>A	c.(637-639)gaG>gaA	p.E213E		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	213					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						ACTTGAAGTTCTCCTGGGCAT	0.572																																						ENST00000335385.3																			0				endometrium(2)|lung(4)|ovary(1)	7						c.(637-639)gaG>gaA		T-box 10							296	258	271					11																	67400485		2200	4294	6494	SO:0001819	synonymous_variant	347853				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:67400485C>T	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"T-boxes"	11593	protein-coding gene	gene with protein product		604648	"T-box 7"	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.639G>A	11.37:g.67400485C>T			Somatic					p.E213E	NM_005995.4	NP_005986.2	WXS	Illumina GAIIx	Phase_I	O75333	TBX10_HUMAN			5	726	-			213					Q14D64|Q86XS3	Silent	SNP	ENST00000335385.3	37	c.639G>A	CCDS31621.1																																																																																				0.572	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	NM_005995		82	140	0	0	0	1	0	82	140					T	67400485	C	T	67400485	2	4	48	1	0	0	0	0	0	0	0	1	15666	912	32	3		3	TBX10	11	67400485	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	180784	67400485	67606031	2750	7218										
SUV420H1	51111	broad.mit.edu	37	chr11	67926511	67926511	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtttctttggtaccctggaAttatttatatgagttagctt	8	5	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:67926511A>C	ENST00000304363.4	-	11	1655	c.1302T>G	c.(1300-1302)aaT>aaG	p.N434K		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	434					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GTACCCTGGAATTATTTATAT	0.373																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(1300-1302)aaT>aaG		suppressor of variegation 4-20 homolog 1 (Drosophila)							95	99	98					11																	67926511		2199	4294	6493	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67926511A>C	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1302T>G	11.37:g.67926511A>C	ENSP00000305899:p.Asn434Lys		Somatic					p.N434K	NM_017635.3	NP_060105.3	WXS	Illumina GAIIx	Phase_I	Q4FZB7	SV421_HUMAN			11	1655	-			434					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.1302T>G	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.668910	0.47677	.	.	ENSG00000110066	ENST00000304363	T	0.47869	0.83	5.55	3.28	0.37604	.	0.290761	0.42294	D	0.000734	T	0.30759	0.0775	L	0.32530	0.975	0.80722	D	1	B	0.27853	0.191	B	0.29267	0.1	T	0.07770	-1.0755	10	0.05721	T	0.95	-19.3032	9.7149	0.40268	0.8616:0.0:0.1384:0.0	.	434	Q4FZB7	SV421_HUMAN	K	434	ENSP00000305899:N434K	ENSP00000305899:N434K	N	-	3	2	SUV420H1	67683087	1.000000	0.71417	0.778000	0.31720	0.769000	0.43574	2.909000	0.48758	0.557000	0.29117	0.482000	0.46254	AAT		0.373	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		20	36	0	0	0	1	0	20	36					C	67926511	A	C	67926511	3	2	48	1	0	0	0	0	1	0	0	0	15429	98	4	4	1359	4	SUV420H1	11	67926511	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	526026	67926511	67080005	2751	7219										
LRP5	4041	broad.mit.edu	37	chr11	68171142	68171142	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccgacctgatggggctcaaAgctgtgaatgtggccaaggt	14	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:68171142A>C	ENST00000294304.7	+	8	1882	c.1776A>C	c.(1774-1776)aaA>aaC	p.K592N		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	592	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGGGCTCAAAGCTGTGAATG	0.627																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1774-1776)aaA>aaC		low density lipoprotein receptor-related protein 5							87	73	78					11																	68171142		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68171142A>C	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1776A>C	11.37:g.68171142A>C	ENSP00000294304:p.Lys592Asn		Somatic					p.K592N	NM_002335.2	NP_002326.2	WXS	Illumina GAIIx	Phase_I	O75197	LRP5_HUMAN			8	1882	+			592			Beta-propeller 2.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.1776A>C	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.855758	0.32791	.	.	ENSG00000162337	ENST00000294304	D	0.94687	-3.49	4.13	-1.46	0.08800	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.51477	U	0.000095	D	0.93854	0.8034	M	0.90814	3.15	0.58432	D	0.999991	B	0.18310	0.027	B	0.18263	0.021	D	0.88199	0.2882	10	0.87932	D	0	.	11.2461	0.48998	0.7435:0.0:0.2565:0.0	.	592	O75197	LRP5_HUMAN	N	592	ENSP00000294304:K592N	ENSP00000294304:K592N	K	+	3	2	LRP5	67927718	1.000000	0.71417	0.960000	0.40013	0.534000	0.34807	0.811000	0.27198	-0.148000	0.11234	-0.248000	0.11899	AAA		0.627	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		7	69	0	0	0	1	0	7	69					C	68171142	A	C	68171142	3	2	48	1	0	0	0	0	1	0	0	0	8969	69	3	4	1806	4	LRP5	11	68171142	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	244631	68171142	66835374	2752	7220										
SAPS3	55291	broad.mit.edu	37	chr11	68369357	68369357	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agattctttaaggagtaattCtccagtggaaatggaaacca	9	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:68369357C>A	ENST00000393800.2	+	21	2473	c.2219C>A	c.(2218-2220)tCt>tAt	p.S740Y	PPP6R3_ENST00000265637.4_Missense_Mutation_p.S694Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.S734Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.S711Y|PPP6R3_ENST00000393799.2_Missense_Mutation_p.S740Y|PPP6R3_ENST00000527403.2_Missense_Mutation_p.S705Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.S508Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.S740Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.S660Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.S660Y	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	740					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						AGGAGTAATTCTCCAGTGGAA	0.493																																						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.(2218-2220)tCt>tAt		protein phosphatase 6, regulatory subunit 3							103	113	110					11																	68369357		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68369357C>A	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	1173	protein-coding gene	gene with protein product	"sporulation-induced transcript 4-associated protein"	610879	"chromosome 11 open reading frame 23", "SAPS domain family, member 3"	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2219C>A	11.37:g.68369357C>A	ENSP00000377389:p.Ser740Tyr		Somatic				PPP6R3_ENST00000393801.3_Missense_Mutation_p.S740Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.S694Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.S711Y|PPP6R3_ENST00000393800.2_Missense_Mutation_p.S740Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.S660Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.S508Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.S660Y|PPP6R3_ENST00000527403.2_Missense_Mutation_p.S705Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.S734Y	p.S740Y			WXS	Illumina GAIIx	Phase_I	Q5H9R7	PP6R3_HUMAN			21	2486	+			740					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.2219C>A	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882164	0.72294	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29	4.91	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.72969	0.3527	M	0.64404	1.975	0.58432	D	0.999995	D;P;D;D;D;D;D;D	0.89917	0.999;0.948;1.0;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D;D	0.91635	0.994;0.548;0.996;0.996;0.998;0.996;0.999;0.993	T	0.76940	-0.2773	10	0.87932	D	0	.	15.2676	0.73675	0.0:0.8592:0.1408:0.0	.	423;508;660;711;734;740;740;660	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	Y	740;740;508;711;694;734;740;660;660;705;447	ENSP00000377388:S740Y;ENSP00000377389:S740Y;ENSP00000434429:S508Y;ENSP00000431415:S711Y;ENSP00000265637:S694Y;ENSP00000433058:S734Y;ENSP00000377390:S740Y;ENSP00000265636:S660Y;ENSP00000437329:S660Y;ENSP00000433565:S705Y;ENSP00000436209:S447Y	ENSP00000265636:S660Y	S	+	2	0	PPP6R3	68125933	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	6.823000	0.75282	1.276000	0.44395	0.591000	0.81541	TCT		0.493	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		54	90	1	0	1.27862e-28	1	1.81741e-28	54	90					A	68369357	C	A	68369357	3	1	48	1	0	0	0	0	1	0	0	0	13853	913	32	2	2293	2	SAPS3	11	68369357	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	198215	68369357	66637159	2753	7221										
IGHMBP2	3508	broad.mit.edu	37	chr11	68696697	68696697	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgctgcccgagagctacttCgacgtggtggtcattgacga	13	10	1	2	rs137852670		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:68696697C>T	ENST00000255078.3	+	8	1218	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	369	Leu-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGAGCTACTTCGACGTGGTGG	0.642																																						ENST00000255078.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	GRCh37	CM042368	IGHMBP2	M	rs137852670	c.(1105-1107)ttC>ttT		immunoglobulin mu binding protein 2							112	106	108					11																	68696697		2200	4294	6494	SO:0001819	synonymous_variant	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68696697C>T	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1107C>T	11.37:g.68696697C>T			Somatic					p.F369F	NM_002180.2	NP_002171.2	WXS	Illumina GAIIx	Phase_I	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		8	1218	+			369			Leu-rich.		A0PJD2|Q00443|Q14177	Silent	SNP	ENST00000255078.3	37	c.1107C>T	CCDS8187.1																																																																																				0.642	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		46	76	0	0	0	1	0	46	76					T	68696697	C	T	68696697	2	4	48	1	0	0	0	0	0	0	0	1	7600	883	31	1		1	IGHMBP2	11	68696697	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	327340	68696697	66309819	2754	7222										
ANO1	55107	broad.mit.edu	37	chr11	69951871	69951871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgataaggattcctttttcGacagcaaaacccggagcacg	9	11	0	1	rs200322701		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:69951871G>A	ENST00000355303.5	+	5	1029	c.724G>A	c.(724-726)Gac>Aac	p.D242N	ANO1_ENST00000530676.1_Missense_Mutation_p.D126N|ANO1_ENST00000316296.5_Missense_Mutation_p.D214N|ANO1_ENST00000398543.2_Missense_Mutation_p.D126N|ANO1_ENST00000531349.1_5'Flank|ANO1_ENST00000538023.1_Missense_Mutation_p.D242N	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	242					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	TTCCTTTTTCGACAGCAAAAC	0.488																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(724-726)Gac>Aac		anoctamin 1, calcium activated chloride channel			ASN/ASP	2,3848		0,2,1923	101	100	100		724	5.2	1	11		100	0,8244		0,0,4122	yes	missense	ANO1	NM_018043.5	23	0,2,6045	AA,AG,GG		0.0,0.0519,0.0165	probably-damaging	242/987	69951871	2,12092	1925	4122	6047	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69951871G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.724G>A	11.37:g.69951871G>A	ENSP00000347454:p.Asp242Asn		Somatic				ANO1_ENST00000530676.1_Missense_Mutation_p.D126N|ANO1_ENST00000398543.2_Missense_Mutation_p.D126N|ANO1_ENST00000538023.1_Missense_Mutation_p.D242N|ANO1_ENST00000316296.5_Missense_Mutation_p.D214N	p.D242N	NM_018043.5	NP_060513.5	WXS	Illumina GAIIx	Phase_I	Q5XXA6	ANO1_HUMAN			5	1029	+			242					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.724G>A	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.175282	0.57692	5.19E-4	0.0	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000531604;ENST00000316296;ENST00000530676	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.67961	0.2949	L	0.37800	1.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.989	T	0.65561	-0.6138	9	.	.	.	.	17.7725	0.88497	0.0:0.0:1.0:0.0	.	214;242	Q5XXA6-3;Q5XXA6	.;ANO1_HUMAN	N	242;242;126;26;209;214;126	ENSP00000347454:D242N;ENSP00000444689:D242N;ENSP00000381551:D126N;ENSP00000436392:D209N;ENSP00000319477:D214N;ENSP00000435797:D126N	.	D	+	1	0	ANO1	69629519	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	8.975000	0.93437	2.437000	0.82529	0.650000	0.86243	GAC		0.488	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		18	28	0	0	0	1	0	18	28					A	69951871	G	A	69951871	3	1	48	1	0	0	0	0	1	0	0	0	695	1058	37	1	742	1	ANO1	11	69951871	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1255174	69951871	65054645	2755	7223										
PPFIA1	8500	broad.mit.edu	37	chr11	70170513	70170513	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttgtgattttctaggagttCgcagcacttactaaagaact	8	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:70170513C>T	ENST00000253925.7	+	3	485	c.270C>T	c.(268-270)ttC>ttT	p.F90F	CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.F90F|CTA-797E19.1_ENST00000531426.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	90					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCTAGGAGTTCGCAGCACTTA	0.403																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(268-270)ttC>ttT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							90	92	91					11																	70170513		2200	4294	6494	SO:0001819	synonymous_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70170513C>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.270C>T	11.37:g.70170513C>T			Somatic				AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.F90F	p.F90F	NM_003626.3	NP_003617.1	WXS	Illumina GAIIx	Phase_I	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		3	485	+			90					A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	c.270C>T	CCDS31627.1																																																																																				0.403	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		48	70	0	0	0	1	0	48	70					T	70170513	C	T	70170513	2	4	48	1	0	0	0	0	0	0	0	1	12318	883	31	1		1	PPFIA1	11	70170513	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	218642	70170513	64836003	2756	7224										
PPFIA1	8500	broad.mit.edu	37	chr11	70171616	70171616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttattttcaggtgagagagcGattacgagtagcacttgaaa	11	5	1	3	rs372608196		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:70171616G>A	ENST00000253925.7	+	5	757	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.R181Q	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	181					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GTGAGAGAGCGATTACGAGTA	0.353																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(541-543)cGa>cAa		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1		G	GLN/ARG,GLN/ARG	1,4399	2.1+/-5.4	0,1,2199	116	111	113		542,542	3.2	0.4	11		113	0,8588		0,0,4294	no	missense,missense	PPFIA1	NM_003626.2,NM_177423.1	43,43	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	181/1203,181/1186	70171616	1,12987	2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70171616G>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.542G>A	11.37:g.70171616G>A	ENSP00000253925:p.Arg181Gln		Somatic				CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.R181Q	p.R181Q	NM_003626.3	NP_003617.1	WXS	Illumina GAIIx	Phase_I	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		5	757	+			181					A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.542G>A	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712639	0.68730	2.27E-4	0.0	ENSG00000131626	ENST00000253925;ENST00000389547	T;T	0.40756	1.02;1.02	5.12	3.25	0.37280	.	0.079832	0.48286	U	0.000189	T	0.44180	0.1281	M	0.74467	2.265	0.39258	D	0.964151	P;P	0.49783	0.735;0.928	B;B	0.42245	0.38;0.381	T	0.53121	-0.8483	10	0.72032	D	0.01	.	11.5139	0.50509	0.1458:0.0:0.8542:0.0	.	181;181	Q13136;Q13136-2	LIPA1_HUMAN;.	Q	181	ENSP00000253925:R181Q;ENSP00000374198:R181Q	ENSP00000253925:R181Q	R	+	2	0	PPFIA1	69849264	1.000000	0.71417	0.428000	0.26697	0.970000	0.65996	9.381000	0.97205	0.569000	0.29329	0.558000	0.71614	CGA		0.353	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		30	72	0	0	0	1	0	30	72					A	70171616	G	A	70171616	3	1	48	1	0	0	0	0	1	0	0	0	12318	1058	37	1	556	1	PPFIA1	11	70171616	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1103	70171616	64834900	2757	7225										
NADSYN1	55191	broad.mit.edu	37	chr11	71174492	71174492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgcaggcctgtaatgcaccGaaacgtccgctacaactgca	9	14	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:71174492G>A	ENST00000319023.2	+	4	466	c.278G>A	c.(277-279)cGa>cAa	p.R93Q		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	93	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GTAATGCACCGAAACGTCCGC	0.602																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(277-279)cGa>cAa		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						117	87	97					11																	71174492		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71174492G>A	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.278G>A	11.37:g.71174492G>A	ENSP00000326424:p.Arg93Gln		Somatic					p.R93Q	NM_018161.4	NP_060631.2	WXS	Illumina GAIIx	Phase_I	Q6IA69	NADE_HUMAN			4	466	+			93			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.278G>A	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662783	0.47572	.	.	ENSG00000172890	ENST00000319023	D	0.85556	-2.0	5.06	5.06	0.68205	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.163209	0.41194	D	0.000934	T	0.78978	0.4369	L	0.55017	1.72	0.80722	D	1	P	0.43169	0.8	B	0.35607	0.206	T	0.79694	-0.1696	10	0.46703	T	0.11	-17.5377	9.8748	0.41197	0.0944:0.0:0.9056:0.0	.	93	Q6IA69	NADE_HUMAN	Q	93	ENSP00000326424:R93Q	ENSP00000326424:R93Q	R	+	2	0	NADSYN1	70852140	0.992000	0.36948	0.926000	0.36857	0.549000	0.35272	3.880000	0.56145	2.515000	0.84797	0.655000	0.94253	CGA		0.602	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		7	36	0	0	0	1	0	7	36					A	71174492	G	A	71174492	3	1	48	1	0	0	0	0	1	0	0	0	10147	1058	37	1	292	1	NADSYN1	11	71174492	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1002876	71174492	63832024	2758	7226										
PDE2A	5138	broad.mit.edu	37	chr11	72289284	72289284	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagctcactcacttgtagaTgggcattgcaatgtgctcca	10	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:72289284T>G	ENST00000334456.5	-	30	2853	c.2608A>C	c.(2608-2610)Atc>Ctc	p.I870L	PDE2A_ENST00000540345.1_Missense_Mutation_p.I861L|PDE2A_ENST00000376450.3_Missense_Mutation_p.I614L|PDE2A_ENST00000418754.2_Missense_Mutation_p.I755L|PDE2A_ENST00000544570.1_Missense_Mutation_p.I863L|PDE2A_ENST00000444035.2_Missense_Mutation_p.I861L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	870	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CACTTGTAGATGGGCATTGCA	0.557																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2608-2610)Atc>Ctc		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						181	149	160					11																	72289284		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72289284T>G	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2608A>C	11.37:g.72289284T>G	ENSP00000334910:p.Ile870Leu		Somatic				PDE2A_ENST00000418754.2_Missense_Mutation_p.I755L|PDE2A_ENST00000444035.2_Missense_Mutation_p.I861L|PDE2A_ENST00000544570.1_Missense_Mutation_p.I863L|PDE2A_ENST00000376450.3_Missense_Mutation_p.I614L|PDE2A_ENST00000540345.1_Missense_Mutation_p.I861L	p.I870L	NM_002599.4	NP_002590.1	WXS	Illumina GAIIx	Phase_I	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		30	2853	-			870			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.2608A>C	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	T	7.960	0.746831	0.15710	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345	D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.59	5.59	0.84812	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	N	0.00841	-1.15	0.50171	D	0.999851	B;B;B;B;B;B	0.18610	0.004;0.0;0.01;0.029;0.0;0.0	B;B;B;B;B;B	0.28385	0.089;0.003;0.058;0.07;0.003;0.007	T	0.58792	-0.7574	10	0.02654	T	1	.	13.7186	0.62712	0.0:0.0:0.0:1.0	.	755;870;861;863;870;614	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	L	870;614;861;939;863;755;861	ENSP00000334910:I870L;ENSP00000365633:I614L;ENSP00000411657:I861L;ENSP00000442256:I863L;ENSP00000410310:I755L;ENSP00000446399:I861L	ENSP00000334910:I870L	I	-	1	0	PDE2A	71966932	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.973000	0.70456	2.125000	0.65367	0.418000	0.28097	ATC		0.557	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		19	50	0	0	0	1	0	19	50					G	72289284	T	G	72289284	3	3	48	1	0	0	0	0	1	0	0	0	11645	1464	51	4	225	4	PDE2A	11	72289284	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1114792	72289284	62717232	2759	7227										
ARAP1	116985	broad.mit.edu	37	chr11	72418358	72418358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgaggtagacagggcctcagCgatggctccctgcatggcct	14	13	1	1	rs191461128		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:72418358C>T	ENST00000393609.3	-	12	1787	c.1585G>A	c.(1585-1587)Gct>Act	p.A529T	ARAP1_ENST00000393605.3_Missense_Mutation_p.A289T|ARAP1_ENST00000455638.2_Missense_Mutation_p.A529T|ARAP1_ENST00000334211.8_Missense_Mutation_p.A284T|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000359373.5_Missense_Mutation_p.A529T|ARAP1_ENST00000426523.1_Missense_Mutation_p.A284T|ARAP1_ENST00000429686.1_Missense_Mutation_p.A284T	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	529	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						AGGGCCTCAGCGATGGCTCCC	0.632													C|||	1	0.000199681	8e-04	0	5008	,	,		18643	0		0	False		,,,				2504	0				Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(1585-1587)Gct>Act		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1		C	THR/ALA,THR/ALA,THR/ALA	0,4400		0,0,2200	53	47	49		1585,850,850	4.5	0.6	11		49	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense,missense	ARAP1	NM_001040118.2,NM_001135190.1,NM_015242.4	58,58,58	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	529/1451,284/1134,284/1206	72418358	1,12985	2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72418358C>T	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1585G>A	11.37:g.72418358C>T	ENSP00000377233:p.Ala529Thr		Somatic				ARAP1_ENST00000393605.3_Missense_Mutation_p.A289T|ARAP1_ENST00000429686.1_Missense_Mutation_p.A284T|ARAP1_ENST00000455638.2_Missense_Mutation_p.A529T|ARAP1_ENST00000393609.3_Missense_Mutation_p.A529T|ARAP1_ENST00000334211.8_Missense_Mutation_p.A284T|ARAP1_ENST00000426523.1_Missense_Mutation_p.A284T	p.A529T			WXS	Illumina GAIIx	Phase_I	Q96P48	ARAP1_HUMAN			12	2436	-			529			PH 2.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.1585G>A	CCDS41687.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.21	2.168960	0.38315	0.0	1.16E-4	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	4.49	4.49	0.54785	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.311612	0.30890	N	0.008680	T	0.57592	0.2064	L	0.42686	1.345	0.19775	N	0.999954	P;P;D;P;P	0.63880	0.902;0.665;0.993;0.898;0.941	B;B;P;B;P	0.49332	0.291;0.054;0.607;0.339;0.485	T	0.50668	-0.8801	10	0.24483	T	0.36	.	10.4332	0.44419	0.0:0.905:0.0:0.095	.	284;284;529;529;289	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	T	529;529;289;284;529;284;284;318	ENSP00000352332:A529T;ENSP00000390461:A529T;ENSP00000377230:A289T;ENSP00000335506:A284T;ENSP00000377233:A529T;ENSP00000392264:A284T;ENSP00000403127:A284T	ENSP00000335506:A284T	A	-	1	0	ARAP1	72096006	0.918000	0.31147	0.628000	0.29241	0.596000	0.36781	2.522000	0.45572	2.338000	0.79540	0.655000	0.94253	GCT		0.632	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		21	31	0	0	0	1	0	21	31					T	72418358	C	T	72418358	3	4	48	1	0	0	0	0	1	0	0	0	838	768	27	1	2863	1	ARAP1	11	72418358	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	129074	72418358	62588158	2760	7228										
ATG16L2	89849	broad.mit.edu	37	chr11	72537800	72537800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agctgccaaattcaagctaaCgaggcaccaggcagtgactg	11	11	1	1	rs370896555		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:72537800C>T	ENST00000321297.5	+	13	1436	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	433					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			TTCAAGCTAACGAGGCACCAG	0.612													C|||	1	0.000199681	8e-04	0	5008	,	,		16590	0		0	False		,,,				2504	0					ENST00000321297.5																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14						c.(1297-1299)aCg>aTg		autophagy related 16-like 2 (S. cerevisiae)		C	MET/THR	0,4400		0,0,2200	62	66	64		1298	3.6	0.1	11		64	1,8585	1.2+/-3.3	0,1,4292	no	missense	ATG16L2	NM_033388.1	81	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	433/620	72537800	1,12985	2200	4293	6493	SO:0001583	missense	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72537800C>T	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"WD repeat domain containing"	25464	protein-coding gene	gene with protein product			"ATG16 autophagy related 16-like 2 (S. cerevisiae)"			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.1298C>T	11.37:g.72537800C>T	ENSP00000326340:p.Thr433Met		Somatic				ATG16L2_ENST00000534905.1_Intron	p.T433M	NM_033388.1	NP_203746.1	WXS	Illumina GAIIx	Phase_I	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		13	1436	+			433					A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	ENST00000321297.5	37	c.1298C>T	CCDS31634.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920049	0.33908	0.0	1.16E-4	ENSG00000168010	ENST00000321297;ENST00000538973;ENST00000541367	T;T;T	0.60672	0.17;0.17;0.17	5.63	3.64	0.41730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.563422	0.17730	N	0.163932	T	0.65144	0.2663	L	0.46819	1.47	0.09310	N	0.999996	D;D	0.76494	0.997;0.999	P;D	0.67725	0.871;0.953	T	0.54118	-0.8341	10	0.87932	D	0	.	8.3653	0.32382	0.1551:0.7623:0.0:0.0825	.	327;433	Q8NAA4-2;Q8NAA4	.;A16L2_HUMAN	M	433;264;264	ENSP00000326340:T433M;ENSP00000441989:T264M;ENSP00000437412:T264M	ENSP00000326340:T433M	T	+	2	0	ATG16L2	72215448	0.014000	0.17966	0.053000	0.19242	0.232000	0.25224	0.539000	0.23175	1.512000	0.48834	0.561000	0.74099	ACG		0.612	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388		37	62	0	0	0	1	0	37	62					T	72537800	C	T	72537800	3	4	48	1	0	0	0	0	1	0	0	0	1092	536	19	1	1348	1	ATG16L2	11	72537800	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	119442	72537800	62468716	2761	7229										
UCP3	7352	broad.mit.edu	37	chr11	73717235	73717235	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtccgcgcctttgggggtgtAcacctgcttgacggagtcat	14	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:73717235A>G	ENST00000314032.4	-	3	868	c.316T>C	c.(316-318)Tac>Cac	p.Y106H	UCP3_ENST00000348534.4_Missense_Mutation_p.Y106H|UCP3_ENST00000426995.2_Missense_Mutation_p.Y106H	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	106					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TTGGGGGTGTACACCTGCTTG	0.612																																						ENST00000314032.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(316-318)Tac>Cac		uncoupling protein 3 (mitochondrial, proton carrier)							44	43	43					11																	73717235		2200	4293	6493	SO:0001583	missense	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73717235A>G	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"Solute carriers"	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.316T>C	11.37:g.73717235A>G	ENSP00000323740:p.Tyr106His		Somatic				UCP3_ENST00000426995.2_Missense_Mutation_p.Y106H|UCP3_ENST00000348534.4_Missense_Mutation_p.Y106H	p.Y106H	NM_003356.3	NP_003347.1	WXS	Illumina GAIIx	Phase_I	P55916	UCP3_HUMAN			3	868	-	Breast(11;2.08e-05)		106					O60475|Q96HL3	Missense_Mutation	SNP	ENST00000314032.4	37	c.316T>C	CCDS8229.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699920	0.68501	.	.	ENSG00000175564	ENST00000314032;ENST00000348534;ENST00000426995	T;T;T	0.79653	-1.29;-1.29;-1.29	5.76	5.76	0.90799	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90896	0.7139	M	0.87328	2.875	0.52099	D	0.999947	D	0.76494	0.999	D	0.85130	0.997	D	0.92409	0.5936	10	0.87932	D	0	-8.4173	15.7314	0.77807	1.0:0.0:0.0:0.0	.	106	P55916	UCP3_HUMAN	H	106	ENSP00000323740:Y106H;ENSP00000343615:Y106H;ENSP00000392143:Y106H	ENSP00000323740:Y106H	Y	-	1	0	UCP3	73394883	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	9.255000	0.95524	2.200000	0.70718	0.459000	0.35465	TAC		0.612	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		6	31	0	0	0	1	0	6	31					G	73717235	A	G	73717235	3	3	48	1	0	0	0	0	1	0	0	0	16947	391	14	4	646	4	UCP3	11	73717235	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1179435	73717235	61289281	2762	7230										
C2CD3	26005	broad.mit.edu	37	chr11	73844488	73844488	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgtgttgatgctctaagaGaatcttcattaataggagga	10	5	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:73844488G>T	ENST00000334126.7	-	6	1296	c.1070C>A	c.(1069-1071)tCt>tAt	p.S357Y	C2CD3_ENST00000313663.7_Missense_Mutation_p.S357Y|C2CD3_ENST00000539061.1_Missense_Mutation_p.S357Y			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	357					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGCTCTAAGAGAATCTTCATT	0.383																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(1069-1071)tCt>tAt		C2 calcium-dependent domain containing 3							131	118	122					11																	73844488		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73844488G>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1070C>A	11.37:g.73844488G>T	ENSP00000334379:p.Ser357Tyr		Somatic				C2CD3_ENST00000539061.1_Missense_Mutation_p.S357Y|C2CD3_ENST00000313663.7_Missense_Mutation_p.S357Y	p.S357Y			WXS	Illumina GAIIx	Phase_I	Q4AC94	C2CD3_HUMAN			6	1296	-	Breast(11;4.16e-06)		357					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.1070C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.015|0.015	-1.556480|-1.556480	0.00910|0.00910	.|.	.|.	ENSG00000168014|ENSG00000168014	ENST00000289350|ENST00000334126;ENST00000313663;ENST00000313681;ENST00000539061	.|T;T	.|0.10573	.|2.86;2.86	5.79|5.79	2.57|2.57	0.30868|0.30868	.|.	.|1.115670	.|0.06531	.|N	.|0.741502	T|T	0.05547|0.05547	0.0146|0.0146	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.33919	.|0.138;0.432	.|B;B	.|0.34242	.|0.051;0.178	T|T	0.29027|0.29027	-1.0025|-1.0025	6|10	0.22109|0.02654	T|T	0.4|1	0.0108|0.0108	4.5716|4.5716	0.12212|0.12212	0.4689:0.1642:0.3669:0.0|0.4689:0.1642:0.3669:0.0	.|.	.|357;357	.|Q4AC94;Q4AC94-1	.|C2CD3_HUMAN;.	I|Y	357|357	.|ENSP00000334379:S357Y;ENSP00000323339:S357Y	ENSP00000289350:L357I|ENSP00000323339:S357Y	L|S	-|-	1|2	0|0	C2CD3|C2CD3	73522136|73522136	0.010000|0.010000	0.17322|0.17322	0.035000|0.035000	0.18076|0.18076	0.116000|0.116000	0.19942|0.19942	0.209000|0.209000	0.17435|0.17435	0.231000|0.231000	0.21079|0.21079	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.383	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		5	26	1	0	0.014758	1	0.015099	5	26					T	73844488	G	T	73844488	3	4	48	1	0	0	0	0	1	0	0	0	2156	942	33	2	4925	2	C2CD3	11	73844488	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	127253	73844488	61162028	2763	7231										
CHRDL2	25884	broad.mit.edu	37	chr11	74421962	74421962	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcatgggcactgaagatctCtccgtgttggtacatggtcc	11	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:74421962C>A	ENST00000376332.3	-	4	860	c.364G>T	c.(364-366)Gag>Tag	p.E122*	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Nonsense_Mutation_p.E122*	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	122	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)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CTGAAGATCTCTCCGTGTTGG	0.612																																						ENST00000376332.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(364-366)Gag>Tag		chordin-like 2							175	162	167					11																	74421962		2200	4293	6493	SO:0001587	stop_gained	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74421962C>A	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.364G>T	11.37:g.74421962C>A	ENSP00000365510:p.Glu122*		Somatic				CHRDL2_ENST00000263671.5_Nonsense_Mutation_p.E122*|CHRDL2_ENST00000534159.1_5'UTR	p.E122*	NM_001278473.1	NP_001265402.1	WXS	Illumina GAIIx	Phase_I	Q6WN34	CRDL2_HUMAN			4	860	-	Hepatocellular(1;0.098)		122			VWFC 2.		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Nonsense_Mutation	SNP	ENST00000376332.3	37	c.364G>T		.	.	.	.	.	.	.	.	.	.	C	40	8.316260	0.98757	.	.	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519;ENST00000528789	.	.	.	5.05	5.05	0.67936	.	0.118551	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-23.4626	13.7872	0.63117	0.0:1.0:0.0:0.0	.	.	.	.	X	122;122;6;6;122	.	ENSP00000263671:E122X	E	-	1	0	CHRDL2	74099610	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.219000	0.78000	2.636000	0.89361	0.655000	0.94253	GAG		0.612	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1			10	16	1	0	0.00621372	1	0.0064192	10	16					A	74421962	C	A	74421962	4	1	48	1	0	0	0	0	0	1	0	0	3376	922	32	2	1027	2	CHRDL2	11	74421962	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	577474	74421962	60584554	2764	7232										
SLCO2B1	11309	broad.mit.edu	37	chr11	74880412	74880412	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctttggcatctcctacatcGatgactttgcccacaacagc	6	15	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:74880412G>A	ENST00000289575.5	+	5	1038	c.643G>A	c.(643-645)Gat>Aat	p.D215N	SLCO2B1_ENST00000428359.2_Missense_Mutation_p.D193N|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.D99N|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.D71N	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	215				D -> V (in Ref. 2; AAG42205). {ECO:0000305}.	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)	CTCCTACATCGATGACTTTGC	0.597																																						ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(643-645)Gat>Aat		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						91	87	89					11																	74880412		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74880412G>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.643G>A	11.37:g.74880412G>A	ENSP00000289575:p.Asp215Asn		Somatic				SLCO2B1_ENST00000532236.1_Missense_Mutation_p.D99N|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.D193N|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.D71N|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_Intron	p.D215N	NM_007256.4	NP_009187.1	WXS	Illumina GAIIx	Phase_I	O94956	SO2B1_HUMAN			5	1038	+			215	D -> V (in Ref. 6).				A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.643G>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	33	5.267342	0.95399	.	.	ENSG00000137491	ENST00000289575;ENST00000532236;ENST00000525650;ENST00000428359;ENST00000526839	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	4.83	4.83	0.62350	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.81226	0.4778	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.85939	0.1457	10	0.87932	D	0	.	15.4645	0.75387	0.0:0.0:1.0:0.0	.	71;215	E9PPU8;O94956	.;SO2B1_HUMAN	N	215;99;71;193;91	ENSP00000289575:D215N;ENSP00000434112:D99N;ENSP00000436324:D71N;ENSP00000388912:D193N;ENSP00000434742:D91N	ENSP00000289575:D215N	D	+	1	0	SLCO2B1	74558060	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	9.008000	0.93601	2.512000	0.84698	0.650000	0.86243	GAT		0.597	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		20	44	0	0	0	1	0	20	44					A	74880412	G	A	74880412	3	1	48	1	0	0	0	0	1	0	0	0	14742	1058	37	1	661	1	SLCO2B1	11	74880412	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	458450	74880412	60126104	2765	7233										
MOGAT2	80168	broad.mit.edu	37	chr11	75439940	75439940	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atccagaatcggttgcagaaGatcatgggcatctccctccc	9	13	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:75439940G>T	ENST00000198801.5	+	5	826	c.756G>T	c.(754-756)aaG>aaT	p.K252N	MOGAT2_ENST00000526712.1_Missense_Mutation_p.K170N	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	252					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)					GGTTGCAGAAGATCATGGGCA	0.522																																						ENST00000526712.1																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(508-510)aaG>aaT		monoacylglycerol O-acyltransferase 2							170	148	156					11																	75439940		2200	4293	6493	SO:0001583	missense	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75439940G>T	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.756G>T	11.37:g.75439940G>T	ENSP00000198801:p.Lys252Asn		Somatic				MOGAT2_ENST00000198801.5_Missense_Mutation_p.K252N	p.K170N			WXS	Illumina GAIIx	Phase_I	Q3SYC2	MOGT2_HUMAN			4	1283	+	Ovarian(111;0.103)		252					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	c.510G>T	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760114	0.49468	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.15372	2.43;2.43	6.03	4.18	0.49190	.	0.509334	0.23439	N	0.048167	T	0.19886	0.0478	L	0.54863	1.705	0.38915	D	0.957628	B	0.18863	0.031	B	0.27262	0.078	T	0.03403	-1.1040	10	0.51188	T	0.08	-20.9864	11.9097	0.52733	0.1412:0.0:0.8588:0.0	.	252	Q3SYC2	MOGT2_HUMAN	N	252;170	ENSP00000198801:K252N;ENSP00000436283:K170N	ENSP00000198801:K252N	K	+	3	2	MOGAT2	75117588	0.001000	0.12720	0.993000	0.49108	0.996000	0.88848	0.252000	0.18278	0.892000	0.36259	0.655000	0.94253	AAG		0.522	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		38	65	1	0	6.04917e-29	1	8.60473e-29	38	65					T	75439940	G	T	75439940	3	4	48	1	0	0	0	0	1	0	0	0	9704	933	33	2	774	2	MOGAT2	11	75439940	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	559528	75439940	59566576	2766	7234										
MYO7A	4647	broad.mit.edu	37	chr11	76910822	76910822	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctagaggggctccggaagaGatctaagtatgttgtggccc	14	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:76910822G>T	ENST00000409709.3	+	35	5083	c.4811G>T	c.(4810-4812)aGa>aTa	p.R1604I	MYO7A_ENST00000409619.2_Missense_Mutation_p.R1555I|MYO7A_ENST00000458637.2_Missense_Mutation_p.R1566I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1604	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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						CTCCGGAAGAGATCTAAGTAT	0.577																																						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.(4810-4812)aGa>aTa		myosin VIIA							39	42	41					11																	76910822		1966	4134	6100	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.chr11:76910822G>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.4811G>T	11.37:g.76910822G>T	ENSP00000386331:p.Arg1604Ile		Somatic				MYO7A_ENST00000409619.2_Missense_Mutation_p.R1555I|MYO7A_ENST00000458637.2_Missense_Mutation_p.R1566I	p.R1604I	NM_000260.3	NP_000251.3	WXS	Illumina GAIIx	Phase_I	Q13402	MYO7A_HUMAN			35	5083	+			1604			SH3.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.4811G>T	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026915	0.93518	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	4.97	4.97	0.65823	Src homology-3 domain (2);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.86834	0.6028	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	0.992;1.0;0.992	D;D;D	0.78314	0.954;0.991;0.954	D	0.89320	0.3639	10	0.87932	D	0	.	18.4094	0.90546	0.0:0.0:1.0:0.0	.	1555;1566;1604	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	I	1604;1566;1555;777;1603;1573;1480;747;219	ENSP00000386331:R1604I;ENSP00000392185:R1566I;ENSP00000386635:R1555I;ENSP00000417017:R747I	ENSP00000345075:R1480I	R	+	2	0	MYO7A	76588470	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.090000	0.71397	2.591000	0.87537	0.561000	0.74099	AGA		0.577	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		6	20	1	0	8.12818e-05	1	8.79784e-05	6	20					T	76910822	G	T	76910822	3	4	48	1	0	0	0	0	1	0	0	0	10091	942	33	2	4979	2	MYO7A	11	76910822	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1470882	76910822	58095694	2767	7235										
GDPD4	220032	broad.mit.edu	37	chr11	76990353	76990353	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgagaagcattactcaccaAcagcaatgaagagtaggcag	10	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:76990353A>G	ENST00000376217.2	-	3	395	c.145T>C	c.(145-147)Ttg>Ctg	p.L49L	GDPD4_ENST00000527489.1_Intron|GDPD4_ENST00000315938.4_Silent_p.L49L			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	49					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						TTACTCACCAACAGCAATGAA	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.(145-147)Ttg>Ctg		glycerophosphodiester phosphodiesterase domain containing 4							101	88	92					11																	76990353		2200	4292	6492	SO:0001819	synonymous_variant	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76990353A>G	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.145T>C	11.37:g.76990353A>G			Somatic				GDPD4_ENST00000527489.1_Intron|GDPD4_ENST00000376217.2_Silent_p.L49L	p.L49L	NM_182833.1	NP_878253.1	WXS	Illumina GAIIx	Phase_I	Q6W3E5	GDPD4_HUMAN			3	395	-			49					Q7Z5B0	Silent	SNP	ENST00000376217.2	37	c.145T>C																																																																																					0.438	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833		14	23	0	0	0	1	0	14	23					G	76990353	A	G	76990353	2	3	48	1	0	0	0	0	0	0	0	1	6334	40	2	4		4	GDPD4	11	76990353	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	79531	76990353	58016163	2768	7236										
INTS4	92105	broad.mit.edu	37	chr11	77612494	77612494	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagttcgtgctgttactataAgttgcaaagctttggcctgc	10	8	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:77612494A>C	ENST00000534064.1	-	18	2235	c.2201T>G	c.(2200-2202)cTt>cGt	p.L734R	AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.L109R	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	734					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGTTACTATAAGTTGCAAAGC	0.423																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(2200-2202)cTt>cGt		integrator complex subunit 4							211	186	194					11																	77612494		2200	4292	6492	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77612494A>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.2201T>G	11.37:g.77612494A>C	ENSP00000434466:p.Leu734Arg		Somatic				AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.L109R	p.L734R	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)		18	2235	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		734					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.2201T>G	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196642	0.79015	.	.	ENSG00000149262	ENST00000534064;ENST00000535943	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.76535	0.4001	M	0.70275	2.135	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.79629	-0.1724	9	0.87932	D	0	-14.2267	13.0659	0.59032	1.0:0.0:0.0:0.0	.	734	Q96HW7	INT4_HUMAN	R	734;109	.	ENSP00000434466:L734R	L	-	2	0	INTS4	77290142	1.000000	0.71417	0.991000	0.47740	0.910000	0.53928	8.185000	0.89704	2.079000	0.62486	0.377000	0.23210	CTT		0.423	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		30	123	0	0	0	1	0	30	123					C	77612494	A	C	77612494	3	2	48	1	0	0	0	0	1	0	0	0	7789	72	3	4	714	4	INTS4	11	77612494	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	622141	77612494	57394022	2769	7237										
INTS4	92105	broad.mit.edu	37	chr11	77692505	77692505	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcttttaaattgcaacttacTttcattctgcaggatgttga	7	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:77692505T>G	ENST00000534064.1	-	3	398	c.364A>C	c.(364-366)Aag>Cag	p.K122Q	INTS4_ENST00000529807.1_Splice_Site_p.K122Q	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	122					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGCAACTTACTTTCATTCTGC	0.328																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.e3+1		integrator complex subunit 4							90	81	84					11																	77692505		2200	4292	6492	SO:0001630	splice_region_variant	92105				snRNA processing	integrator complex	protein binding	g.chr11:77692505T>G	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.364+1A>C	11.37:g.77692505T>G			Somatic				INTS4_ENST00000529807.1_Splice_Site_p.K122_splice	p.K122_splice	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)		3	398	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		122					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Splice_Site	SNP	ENST00000534064.1	37	c.364_splice	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097238	0.76870	.	.	ENSG00000149262	ENST00000534064;ENST00000529807	T;T	0.66099	-0.19;1.32	4.75	4.75	0.60458	Armadillo-like helical (1);Armadillo-type fold (1);	0.051049	0.85682	D	0.000000	T	0.59101	0.2169	L	0.43152	1.355	0.80722	D	1	P	0.52316	0.952	P	0.46585	0.521	T	0.59311	-0.7478	9	.	.	.	-17.0803	14.4225	0.67193	0.0:0.0:0.0:1.0	.	122	Q96HW7	INT4_HUMAN	Q	122	ENSP00000434466:K122Q;ENSP00000433644:K122Q	.	K	-	1	0	INTS4	77370153	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.301000	0.78850	2.001000	0.58596	0.482000	0.46254	AAG		0.328	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547	Missense_Mutation	9	12	0	0	0	1	0	9	12					G	77692505	T	G	77692505	5	3	48	1	0	0	0	0	0	0	1	0	7789	1623	56	4	2611	4	INTS4	11	77692505	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	80011	77692505	57314011	2770	7238										
ODZ4	26011	broad.mit.edu	37	chr11	78383338	78383338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttctctgtgcgtgttacgcGatcaaagtccagagatagga	11	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:78383338G>A	ENST00000278550.7	-	31	5995	c.5533C>T	c.(5533-5535)Cgc>Tgc	p.R1845C		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1845					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)										CGTGTTACGCGATCAAAGTCC	0.517																																						ENST00000278550.7																			0											c.(5533-5535)Cgc>Tgc		teneurin transmembrane protein 4							91	89	90					11																	78383338		1937	4153	6090	SO:0001583	missense	26011							g.chr11:78383338G>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.5533C>T	11.37:g.78383338G>A	ENSP00000278550:p.Arg1845Cys		Somatic					p.R1845C	NM_001098816.2	NP_001092286.2	WXS	Illumina GAIIx	Phase_I					31	5995	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.5533C>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814614	0.70912	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90385	-2.66;0.77	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.95411	0.8510	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94391	0.7614	9	.	.	.	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1845	Q6N022	TEN4_HUMAN	C	1845;309	ENSP00000278550:R1845C;ENSP00000431711:R309C	.	R	-	1	0	ODZ4	78060986	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	CGC		0.517	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			15	64	0	0	0	1	0	15	64					A	78383338	G	A	78383338	3	1	48	1	0	0	0	0	1	0	0	0	10846	1058	37	1	2792	1	ODZ4	11	78383338	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	690833	78383338	56623178	2771	7239										
PRCP	5547	broad.mit.edu	37	chr11	82564263	82564263	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagagactctccatagtatcGatgttcagcaaacaccaaca	7	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:82564263G>A	ENST00000313010.3	-	3	561	c.367C>T	c.(367-369)Cga>Tga	p.R123*	PRCP_ENST00000393399.2_Nonsense_Mutation_p.R144*|PRCP_ENST00000535099.1_Nonsense_Mutation_p.R18*	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	123					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CCATAGTATCGATGTTCAGCA	0.363																																						ENST00000313010.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(367-369)Cga>Tga		prolylcarboxypeptidase (angiotensinase C)							115	99	105					11																	82564263		2203	4300	6503	SO:0001587	stop_gained	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82564263G>A	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.367C>T	11.37:g.82564263G>A	ENSP00000317362:p.Arg123*		Somatic				PRCP_ENST00000535099.1_Nonsense_Mutation_p.R18*|PRCP_ENST00000393399.2_Nonsense_Mutation_p.R144*	p.R123*	NM_005040.2	NP_005031.1	WXS	Illumina GAIIx	Phase_I	P42785	PCP_HUMAN			3	561	-			123					A8MU24|B2R7B7|B3KRK5|B5BU34	Nonsense_Mutation	SNP	ENST00000313010.3	37	c.367C>T	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932848	0.92458	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099;ENST00000531801;ENST00000534631;ENST00000527444;ENST00000531128;ENST00000534396;ENST00000529671;ENST00000528082;ENST00000532809;ENST00000533126;ENST00000534264	.	.	.	5.27	3.36	0.38483	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.4589	13.8337	0.63398	0.0:0.0:0.5315:0.4685	.	.	.	.	X	123;144;18;18;18;18;18;18;82;18;69;18;18	.	.	R	-	1	2	PRCP	82241911	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	2.206000	0.42779	0.571000	0.29365	0.650000	0.86243	CGA		0.363	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		8	26	0	0	0	1	0	8	26					A	82564263	G	A	82564263	4	1	48	1	0	0	0	0	0	1	0	0	12461	1066	37	1	1151	1	PRCP	11	82564263	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4180925	82564263	52442253	2772	7240										
RAB30	27314	broad.mit.edu	37	chr11	82698747	82698747	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgaggatcaaggcattggcGcttcggtagtaactctgggt	15	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:82698747G>A	ENST00000533486.1	-	5	527	c.243C>T	c.(241-243)agC>agT	p.S81S	RAB30_ENST00000532548.1_Silent_p.S81S|RAB30_ENST00000534141.1_Silent_p.S81S|RAB30_ENST00000525117.1_Silent_p.S53S|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000527633.1_Silent_p.S81S|RAB30_ENST00000260056.2_Silent_p.S81S	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	81					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AGGCATTGGCGCTTCGGTAGT	0.483																																						ENST00000533486.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(241-243)agC>agT		RAB30, member RAS oncogene family							197	181	186					11																	82698747		2203	4300	6503	SO:0001819	synonymous_variant	27314				protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity	g.chr11:82698747G>A	U57092	CCDS8264.1	11q12-q14	2008-07-21				ENSG00000137502		"RAB, member RAS oncogene"	9770	protein-coding gene	gene with protein product		605693				8863739, 9792283	Standard	NM_014488		Approved		uc001ozu.3	Q15771		ENST00000533486.1:c.243C>T	11.37:g.82698747G>A			Somatic				RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000527633.1_Silent_p.S81S|RAB30_ENST00000532548.1_Silent_p.S81S|RAB30_ENST00000525117.1_Silent_p.S53S|RAB30_ENST00000534141.1_Silent_p.S81S|RAB30_ENST00000260056.2_Silent_p.S81S	p.S81S	NM_014488.3	NP_055303.2	WXS	Illumina GAIIx	Phase_I	Q15771	RAB30_HUMAN			5	527	-			81					Q6FGK1|Q6MZH2|Q96CI8	Silent	SNP	ENST00000533486.1	37	c.243C>T	CCDS8264.1																																																																																				0.483	RAB30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392141.1	NM_014488		11	78	0	0	0	1	0	11	78					A	82698747	G	A	82698747	2	1	48	1	0	0	0	0	0	0	0	1	12934	1078	38	1		1	RAB30	11	82698747	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	134484	82698747	52307769	2773	7241										
PCF11	51585	broad.mit.edu	37	chr11	82872456	82872456	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtatctcactgcctttactAaaaatctagttgcaacattt	4	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:82872456A>G	ENST00000298281.4	+	2	732	c.280A>G	c.(280-282)Aaa>Gaa	p.K94E		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	94	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				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						TGCCTTTACTAAAAATCTAGT	0.313																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(280-282)Aaa>Gaa		PCF11 cleavage and polyadenylation factor subunit							80	76	77					11																	82872456		1809	4068	5877	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.chr11:82872456A>G	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)", "PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.280A>G	11.37:g.82872456A>G	ENSP00000298281:p.Lys94Glu		Somatic					p.K94E	NM_015885.3	NP_056969.2	WXS	Illumina GAIIx	Phase_I	O94913	PCF11_HUMAN			2	732	+			94			CID.		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.280A>G	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.020902	0.75275	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.44482	0.92;0.92;0.92	5.66	5.66	0.87406	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	0.000000	0.64402	D	0.000007	T	0.59662	0.2210	L	0.55213	1.73	0.58432	D	0.999997	P;D	0.71674	0.886;0.998	P;D	0.74023	0.841;0.982	T	0.57312	-0.7833	9	.	.	.	.	16.2026	0.82095	1.0:0.0:0.0:0.0	.	94;94	E9PQ01;O94913	.;PCF11_HUMAN	E	94	ENSP00000298281:K94E;ENSP00000434540:K94E;ENSP00000431567:K94E	.	K	+	1	0	PCF11	82550104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.219000	0.78000	2.285000	0.76669	0.533000	0.62120	AAA		0.313	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		7	17	0	0	0	1	0	7	17					G	82872456	A	G	82872456	3	3	48	1	0	0	0	0	1	0	0	0	11582	363	13	4	286	4	PCF11	11	82872456	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	173709	82872456	52134060	2774	7242										
PCF11	51585	broad.mit.edu	37	chr11	82878235	82878235	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagagctggtcaagcactaAaggaattttatcacctcgag	11	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:82878235A>C	ENST00000298281.4	+	6	2338	c.1886A>C	c.(1885-1887)aAa>aCa	p.K629T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	629					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						TCAAGCACTAAAGGAATTTTA	0.408																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(1885-1887)aAa>aCa		PCF11 cleavage and polyadenylation factor subunit							126	122	123					11																	82878235		1935	4147	6082	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.chr11:82878235A>C	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.1886A>C	11.37:g.82878235A>C	ENSP00000298281:p.Lys629Thr		Somatic					p.K629T	NM_015885.3	NP_056969.2	WXS	Illumina GAIIx	Phase_I	O94913	PCF11_HUMAN			6	2338	+			629					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.1886A>C	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980441	0.53827	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.52526	1.64;0.68;0.66	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000007	T	0.57359	0.2048	L	0.29908	0.895	0.48288	D	0.999627	D;D	0.71674	0.996;0.998	P;D	0.76071	0.867;0.987	T	0.54417	-0.8297	9	.	.	.	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	629;629	E9PQ01;O94913	.;PCF11_HUMAN	T	629	ENSP00000298281:K629T;ENSP00000434540:K629T;ENSP00000431567:K629T	.	K	+	2	0	PCF11	82555883	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.558000	0.60789	2.289000	0.77006	0.482000	0.46254	AAA		0.408	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		46	74	0	0	0	1	0	46	74					C	82878235	A	C	82878235	3	2	48	1	0	0	0	0	1	0	0	0	11582	14	1	4	1908	4	PCF11	11	82878235	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	5779	82878235	52128281	2775	7243										
DLG2	1740	broad.mit.edu	37	chr11	84245767	84245767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagcgtcctcatcttgatatCgatacttctaggagaaaaga	9	8	3	3	rs150043290		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:84245767C>T	ENST00000532653.1	-	2	352	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	DLG2_ENST00000543673.1_Missense_Mutation_p.R122Q|DLG2_ENST00000524982.1_Missense_Mutation_p.R17Q|DLG2_ENST00000398309.2_Missense_Mutation_p.R17Q|DLG2_ENST00000376104.2_Missense_Mutation_p.R122Q			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				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)				ATCTTGATATCGATACTTCTA	0.388													C|||	1	0.000199681	0	0	5008	,	,		21354	0		0.001	False		,,,				2504	0					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.(49-51)cGa>cAa		discs, large homolog 2 (Drosophila)							173	161	165					11																	84245767		1876	4113	5989	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84245767C>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.50G>A	11.37:g.84245767C>T	ENSP00000435849:p.Arg17Gln		Somatic				DLG2_ENST00000543673.1_Missense_Mutation_p.R122Q|DLG2_ENST00000376104.2_Missense_Mutation_p.R122Q|DLG2_ENST00000524982.1_Missense_Mutation_p.R17Q|DLG2_ENST00000532653.1_Missense_Mutation_p.R17Q	p.R17Q	NM_001364.3	NP_001355.2	WXS	Illumina GAIIx	Phase_I	Q15700	DLG2_HUMAN			2	520	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	17					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.50G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	34	5.358640	0.95854	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000527088	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	5.88	5.88	0.94601	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);	0.000000	0.51477	D	0.000083	T	0.65585	0.2705	M	0.77103	2.36	0.80722	D	1	P;P;P;P	0.52170	0.898;0.951;0.876;0.495	B;P;B;B	0.48921	0.335;0.595;0.226;0.166	T	0.66356	-0.5944	9	.	.	.	.	20.2279	0.98344	0.0:1.0:0.0:0.0	.	17;17;122;17	B7Z2T4;E9PN83;Q15700-2;Q15700	.;.;.;DLG2_HUMAN	Q	17;122;122;17;17;122;38	ENSP00000381355:R17Q;ENSP00000365272:R122Q;ENSP00000441994:R122Q;ENSP00000432894:R17Q;ENSP00000435849:R17Q;ENSP00000435809:R38Q	.	R	-	2	0	DLG2	83923415	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.354000	0.59417	2.778000	0.95560	0.655000	0.94253	CGA		0.388	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		38	71	0	0	0	1	0	38	71					T	84245767	C	T	84245767	3	4	48	1	0	0	0	0	1	0	0	0	4557	884	31	1	2809	1	DLG2	11	84245767	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1367532	84245767	50760749	2776	7244										
CCDC89	220388	broad.mit.edu	37	chr11	85396557	85396557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagcagctccttctcgcgcGcctgtgcctggcaggcatcc	11	18	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:85396557G>A	ENST00000316398.3	-	1	763	c.617C>T	c.(616-618)gCg>gTg	p.A206V	CREBZF_ENST00000531515.1_5'Flank|CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	206						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTTCTCGCGCGCCTGTGCCTG	0.617																																						ENST00000316398.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(616-618)gCg>gTg		coiled-coil domain containing 89							107	103	104					11																	85396557		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396557G>A	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.617C>T	11.37:g.85396557G>A	ENSP00000320649:p.Ala206Val		Somatic					p.A206V	NM_152723.1	NP_689936.1	WXS	Illumina GAIIx	Phase_I	Q8N998	CCD89_HUMAN			1	763	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	206						Missense_Mutation	SNP	ENST00000316398.3	37	c.617C>T	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982620	0.53827	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.8	4.87	0.63330	.	0.683760	0.14524	N	0.314267	T	0.48484	0.1502	M	0.74881	2.28	0.26920	N	0.966706	D	0.57899	0.981	P	0.46758	0.526	T	0.48958	-0.8988	8	.	.	.	-5.6639	9.3945	0.38394	0.0:0.2405:0.5741:0.1854	.	206	Q8N998	CCD89_HUMAN	V	206	.	.	A	-	2	0	CCDC89	85074205	0.998000	0.40836	1.000000	0.80357	0.589000	0.36550	2.323000	0.43823	1.406000	0.46857	0.655000	0.94253	GCG		0.617	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		42	117	0	0	0	1	0	42	117					A	85396557	G	A	85396557	3	1	48	1	0	0	0	0	1	0	0	0	2868	1087	38	1	511	1	CCDC89	11	85396557	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1150790	85396557	49609959	2777	7245										
CCDC89	220388	broad.mit.edu	37	chr11	85396938	85396938	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catctgacctccgcttcaggAtgcagatgagctgggactgc	12	12	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:85396938A>C	ENST00000316398.3	-	1	382	c.236T>G	c.(235-237)aTc>aGc	p.I79S	CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	79						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCGCTTCAGGATGCAGATGAG	0.587																																						ENST00000316398.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(235-237)aTc>aGc		coiled-coil domain containing 89							65	57	60					11																	85396938		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396938A>C	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.236T>G	11.37:g.85396938A>C	ENSP00000320649:p.Ile79Ser		Somatic					p.I79S	NM_152723.1	NP_689936.1	WXS	Illumina GAIIx	Phase_I	Q8N998	CCD89_HUMAN			1	382	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	79						Missense_Mutation	SNP	ENST00000316398.3	37	c.236T>G	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.670877	0.67814	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.91	5.91	0.95273	.	0.187191	0.44483	U	0.000444	T	0.65365	0.2684	M	0.72894	2.215	0.46774	D	0.999196	B	0.29037	0.231	B	0.34452	0.183	T	0.62464	-0.6849	8	.	.	.	-9.5706	16.3436	0.83110	1.0:0.0:0.0:0.0	.	79	Q8N998	CCD89_HUMAN	S	79	.	.	I	-	2	0	CCDC89	85074586	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.429000	0.52800	2.269000	0.75478	0.533000	0.62120	ATC		0.587	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		4	44	0	0	0	1	0	4	44					C	85396938	A	C	85396938	3	2	48	1	0	0	0	0	1	0	0	0	2868	333	12	4	892	4	CCDC89	11	85396938	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	381	85396938	49609578	2778	7246										
SYTL2	54843	broad.mit.edu	37	chr11	85407247	85407247	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttccaaagccaatacgaaGacctcccaaaaattggttgg	8	10	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:85407247G>T	ENST00000528231.1	-	17	2915	c.2638C>A	c.(2638-2640)Ctt>Att	p.L880I	SYTL2_ENST00000359152.5_Missense_Mutation_p.L1726I|SYTL2_ENST00000529581.1_Missense_Mutation_p.L322I|SYTL2_ENST00000527523.1_Missense_Mutation_p.L848I|SYTL2_ENST00000524452.1_Missense_Mutation_p.L856I|SYTL2_ENST00000389958.3_Missense_Mutation_p.L311I|SYTL2_ENST00000316356.4_Missense_Mutation_p.L881I|SYTL2_ENST00000389960.4_Missense_Mutation_p.L856I|SYTL2_ENST00000525702.1_Missense_Mutation_p.L322I|SYTL2_ENST00000525423.1_Missense_Mutation_p.L1202I|SYTL2_ENST00000354566.3_Missense_Mutation_p.L1218I|SYTL2_ENST00000533892.1_Missense_Mutation_p.L282I	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	880	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			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)		CCAATACGAAGACCTCCCAAA	0.403																																						ENST00000359152.5																			0				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.(5176-5178)Ctt>Att		synaptotagmin-like 2							103	100	101					11																	85407247		2203	4299	6502	SO:0001583	missense	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.chr11:85407247G>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.2638C>A	11.37:g.85407247G>T	ENSP00000431701:p.Leu880Ile		Somatic				SYTL2_ENST00000527523.1_Missense_Mutation_p.L848I|SYTL2_ENST00000524452.1_Missense_Mutation_p.L856I|SYTL2_ENST00000316356.4_Missense_Mutation_p.L881I|SYTL2_ENST00000533892.1_Missense_Mutation_p.L282I|SYTL2_ENST00000528231.1_Missense_Mutation_p.L880I|SYTL2_ENST00000354566.3_Missense_Mutation_p.L1218I|SYTL2_ENST00000525423.1_Missense_Mutation_p.L1202I|SYTL2_ENST00000389960.4_Missense_Mutation_p.L856I|SYTL2_ENST00000529581.1_Missense_Mutation_p.L322I|SYTL2_ENST00000389958.3_Missense_Mutation_p.L311I|SYTL2_ENST00000525702.1_Missense_Mutation_p.L322I	p.L1726I	NM_206928.2	NP_996811.1	WXS	Illumina GAIIx	Phase_I	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	11	5175	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	880					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.5176C>A	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933603	0.73442	.	.	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525702;ENST00000525423;ENST00000529581;ENST00000389958;ENST00000530351;ENST00000528231;ENST00000533892;ENST00000527523;ENST00000524452	T;T;T;T;T;T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.95	5.95	0.96441	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.134457	0.50627	D	0.000106	T	0.69975	0.3171	N	0.17379	0.485	0.51012	D	0.999909	P;D;D;P;P;P;B;P;B;P	0.69078	0.725;0.997;0.972;0.532;0.911;0.712;0.175;0.542;0.077;0.526	B;D;P;B;P;P;B;P;B;B	0.63877	0.444;0.919;0.823;0.343;0.674;0.493;0.316;0.55;0.075;0.254	T	0.67929	-0.5543	9	.	.	.	-17.8649	13.5695	0.61838	0.0706:0.0:0.9294:0.0	.	848;856;880;881;698;1178;1202;1218;311;282	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15;Q9HCH5-11;Q9HCH5-7;Q9HCH5-8;Q9HCH5-9;Q9HCH5-4	.;.;SYTL2_HUMAN;.;.;.;.;.;.;.	I	856;1726;1218;881;322;1202;322;311;597;880;282;848;856	ENSP00000374610:L856I;ENSP00000352065:L1726I;ENSP00000346576:L1218I;ENSP00000318803:L881I;ENSP00000432996:L322I;ENSP00000432694:L1202I;ENSP00000435855:L322I;ENSP00000374608:L311I;ENSP00000435009:L597I;ENSP00000431701:L880I;ENSP00000432144:L282I;ENSP00000434010:L848I;ENSP00000435238:L856I	.	L	-	1	0	SYTL2	85084895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.960000	0.56752	2.824000	0.97209	0.655000	0.94253	CTT		0.403	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		28	53	1	0	5.45727e-16	1	7.22369e-16	28	53					T	85407247	G	T	85407247	3	4	48	1	0	0	0	0	1	0	0	0	15498	942	33	2	174	2	SYTL2	11	85407247	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	10309	85407247	49599269	2779	7247										
CCDC83	220047	broad.mit.edu	37	chr11	85623738	85623738	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctctaatcctcgtcatctgCtgctgctgcctttggaatca	7	14	4	0	rs374889719		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:85623738C>A	ENST00000342404.3	+	8	1010				CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000280245.4_Missense_Mutation_p.L281M|CCDC83_ENST00000529676.2_Intron			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TCGTCATCTGCTGCTGCTGCC	0.512																																						ENST00000280245.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29						c.(841-843)Ctg>Atg		coiled-coil domain containing 83							409	336	361					11																	85623738		2203	4299	6502	SO:0001627	intron_variant	220047							g.chr11:85623738C>A	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.794+1293C>A	11.37:g.85623738C>A			Somatic				CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000342404.3_Intron	p.L281M	NM_173556.3	NP_775827.2	WXS	Illumina GAIIx	Phase_I	Q8IWF9	CCD83_HUMAN			9	1353	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	265					B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37	c.841C>A		.	.	.	.	.	.	.	.	.	.	C	14.09	2.431202	0.43122	.	.	ENSG00000150676	ENST00000280245	T	0.43688	0.94	2.96	2.04	0.26737	.	2.877710	0.01915	N	0.040101	T	0.59473	0.2196	.	.	.	0.09310	N	0.999999	D	0.76494	0.999	D	0.69479	0.964	T	0.22800	-1.0206	8	.	.	.	0.4007	5.8434	0.18647	0.0:0.8534:0.0:0.1466	.	281	Q8IWF9-2	.	M	281	ENSP00000280245:L281M	.	L	+	1	2	CCDC83	85301386	0.000000	0.05858	0.015000	0.15790	0.614000	0.37383	-0.045000	0.12003	0.810000	0.34279	0.467000	0.42956	CTG		0.512	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		6	204	1	0	3.59834e-05	1	3.93264e-05	6	204					A	85623738	C	A	85623738	1	1	48	0	1	0	0	0	0	0	0	0	2859	796	28	5		5	CCDC83	11	85623738	Intron	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	216491	85623738	49382778	2780	7248										
RAB38	23682	broad.mit.edu	37	chr11	87847193	87847193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagagcagctggcaaccttgGttgatgtgagatggggcttc	15	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:87847193G>A	ENST00000243662.6	-	3	681	c.599C>T	c.(598-600)aCc>aTc	p.T200I	RP11-164N3.3_ENST00000528458.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	200					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)				GGCAACCTTGGTTGATGTGAG	0.493																																						ENST00000243662.6																			0				large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(598-600)aCc>aTc		RAB38, member RAS oncogene family							144	134	137					11																	87847193		2201	4299	6500	SO:0001583	missense	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87847193G>A	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.599C>T	11.37:g.87847193G>A	ENSP00000243662:p.Thr200Ile		Somatic				RP11-164N3.3_ENST00000528458.1_RNA	p.T200I	NM_022337.2	NP_071732.1	WXS	Illumina GAIIx	Phase_I	P57729	RAB38_HUMAN			3	681	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	200					Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.599C>T	CCDS8281.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290463	0.23478	.	.	ENSG00000123892	ENST00000243662	T	0.70749	-0.51	5.47	5.47	0.80525	.	0.778199	0.12649	N	0.450628	T	0.53530	0.1802	N	0.08118	0	0.25473	N	0.98781	B	0.06786	0.001	B	0.10450	0.005	T	0.24048	-1.0171	9	.	.	.	-0.3234	17.1709	0.86830	0.0:0.0:1.0:0.0	.	200	P57729	RAB38_HUMAN	I	200	ENSP00000243662:T200I	.	T	-	2	0	RAB38	87486841	1.000000	0.71417	0.178000	0.23040	0.077000	0.17291	3.316000	0.51960	2.724000	0.93272	0.650000	0.86243	ACC		0.493	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			39	66	0	0	0	1	0	39	66					A	87847193	G	A	87847193	3	1	48	1	0	0	0	0	1	0	0	0	12943	1261	44	3	40	3	RAB38	11	87847193	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2223455	87847193	47159323	2781	7249										
NAALAD2	10003	broad.mit.edu	37	chr11	89868834	89868834	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgaaaacatcaaatcatttCttcggtaagtttattttacg	5	7	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:89868834C>A	ENST00000534061.1	+	2	420	c.190C>A	c.(190-192)Ctt>Att	p.L64I	NAALAD2_ENST00000321955.4_Missense_Mutation_p.L64I|NAALAD2_ENST00000525171.1_Missense_Mutation_p.L64I|NAALAD2_ENST00000375944.3_Missense_Mutation_p.L64I	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	64					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)				CAAATCATTTCTTCGGTAAGT	0.343																																						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.(190-192)Ctt>Att		N-acetylated alpha-linked acidic dipeptidase 2							89	92	91					11																	89868834		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.chr11:89868834C>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.190C>A	11.37:g.89868834C>A	ENSP00000432481:p.Leu64Ile		Somatic				NAALAD2_ENST00000375944.3_Missense_Mutation_p.L64I|NAALAD2_ENST00000321955.4_Missense_Mutation_p.L64I|NAALAD2_ENST00000525171.1_Missense_Mutation_p.L64I	p.L64I	NM_005467.3	NP_005458.1	WXS	Illumina GAIIx	Phase_I	Q9Y3Q0	NALD2_HUMAN			2	420	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	64					B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.190C>A	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217013	0.79352	.	.	ENSG00000077616	ENST00000525497;ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T;T	0.70749	-0.51;0.74;0.74;0.74;0.74;0.74	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000002	D	0.84741	0.5539	M	0.83774	2.66	0.80722	D	1	D;P;D;D;P	0.89917	1.0;0.954;0.999;0.989;0.955	D;P;D;D;P	0.87578	0.998;0.898;0.984;0.979;0.887	D	0.85657	0.1286	9	.	.	.	-21.1633	15.59	0.76521	0.0:1.0:0.0:0.0	.	64;64;64;64;64	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	I	64;64;64;64;64;10	ENSP00000431989:L64I;ENSP00000432481:L64I;ENSP00000320083:L64I;ENSP00000435249:L64I;ENSP00000365111:L64I;ENSP00000435670:L10I	.	L	+	1	0	NAALAD2	89508482	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	3.856000	0.55964	2.706000	0.92434	0.644000	0.83932	CTT		0.343	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		13	17	1	0	7.03913e-09	1	8.36985e-09	13	17					A	89868834	C	A	89868834	3	1	48	1	0	0	0	0	1	0	0	0	10137	913	32	2	196	2	NAALAD2	11	89868834	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2021641	89868834	45137682	2782	7250										
CHORDC1	26973	broad.mit.edu	37	chr11	89944398	89944398	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttacctttcttattttcttCattccctgatgacagtttaa	3	10	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:89944398C>A	ENST00000320585.6	-	5	827	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	CHORDC1_ENST00000529726.1_5'Flank|CHORDC1_ENST00000457199.2_Nonsense_Mutation_p.E121*|CHORDC1_ENST00000529987.1_5'Flank	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	140	Interaction with HSP90AA1 and HSP90AB1. {ECO:0000250}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)	p.E140*(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TTATTTTCTTCATTCCCTGAT	0.303																																						ENST00000320585.6																			1	Substitution - Nonsense(1)	p.E140*(1)	large_intestine(1)	endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11						c.(418-420)Gaa>Taa		cysteine and histidine-rich domain (CHORD) containing 1							94	101	98					11																	89944398		2200	4291	6491	SO:0001587	stop_gained	26973				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	g.chr11:89944398C>A	AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1", "cysteine and histidine-rich domain (CHORD)-containing 1"			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.418G>T	11.37:g.89944398C>A	ENSP00000319255:p.Glu140*		Somatic				CHORDC1_ENST00000457199.2_Nonsense_Mutation_p.E121*	p.E140*	NM_012124.2	NP_036256.2	WXS	Illumina GAIIx	Phase_I	Q9UHD1	CHRD1_HUMAN			5	827	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)	140			Interaction with HSP90AA1 and HSP90AB1 (By similarity).		B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Nonsense_Mutation	SNP	ENST00000320585.6	37	c.418G>T	CCDS8289.1	.	.	.	.	.	.	.	.	.	.	C	41	8.824005	0.98968	.	.	ENSG00000110172	ENST00000320585;ENST00000457199	.	.	.	5.77	5.77	0.91146	.	0.314188	0.38897	N	0.001534	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1524	20.0519	0.97629	0.0:1.0:0.0:0.0	.	.	.	.	X	140;121	.	.	E	-	1	0	CHORDC1	89584046	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.618000	0.54188	2.746000	0.94184	0.580000	0.79431	GAA		0.303	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394111.1	NM_012124		22	43	1	0	1.10923e-09	1	1.34134e-09	22	43					A	89944398	C	A	89944398	4	1	48	1	0	0	0	0	0	1	0	0	3367	835	29	2	608	2	CHORDC1	11	89944398	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	75564	89944398	45062118	2783	7251										
FAT3	120114	broad.mit.edu	37	chr11	92085936	92085936	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctccttaagtggtcgattaAattatgatgaaaagaatagg	9	4	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92085936A>C	ENST00000298047.6	+	1	675	c.658A>C	c.(658-660)Aat>Cat	p.N220H	FAT3_ENST00000409404.2_Missense_Mutation_p.N220H|FAT3_ENST00000541502.1_Missense_Mutation_p.N220H|FAT3_ENST00000525166.1_Missense_Mutation_p.N70H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	220	Cadherin 2. {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)				TGGTCGATTAAATTATGATGA	0.383										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.(658-660)Aat>Cat		FAT atypical cadherin 3							106	99	101					11																	92085936		1839	4095	5934	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085936A>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.658A>C	11.37:g.92085936A>C	ENSP00000298047:p.Asn220His	TCGA Ovarian(4;0.039)	Somatic				FAT3_ENST00000525166.1_Missense_Mutation_p.N70H|FAT3_ENST00000541502.1_Missense_Mutation_p.N220H|FAT3_ENST00000409404.2_Missense_Mutation_p.N220H	p.N220H			WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			1	675	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	220			Cadherin 2.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.658A>C		.	.	.	.	.	.	.	.	.	.	A	13.79	2.343470	0.41498	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.15	4.01	0.46588	.	.	.	.	.	T	0.66056	0.2751	M	0.75777	2.31	0.31831	N	0.624668	D	0.67145	0.996	D	0.64042	0.921	T	0.70396	-0.4883	9	0.72032	D	0.01	.	6.5248	0.22295	0.7633:0.158:0.0787:0.0	.	220	Q8TDW7-3	.	H	220;220;220;70	ENSP00000298047:N220H;ENSP00000387040:N220H;ENSP00000443786:N220H;ENSP00000432586:N70H	ENSP00000298047:N220H	N	+	1	0	FAT3	91725584	0.994000	0.37717	0.994000	0.49952	0.989000	0.77384	3.223000	0.51231	0.880000	0.35969	-0.291000	0.09656	AAT		0.383	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		32	59	0	0	0	1	0	32	59					C	92085936	A	C	92085936	3	2	48	1	0	0	0	0	1	0	0	0	5699	14	1	4	660	4	FAT3	11	92085936	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2141538	92085936	42920580	2784	7252										
FAT3	120114	broad.mit.edu	37	chr11	92087781	92087781	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcccagtttttattcaagacAgttactcagttaacattctt	5	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92087781A>C	ENST00000298047.6	+	1	2520	c.2503A>C	c.(2503-2505)Agt>Cgt	p.S835R	FAT3_ENST00000409404.2_Missense_Mutation_p.S835R|FAT3_ENST00000541502.1_Missense_Mutation_p.S835R|FAT3_ENST00000525166.1_Missense_Mutation_p.S685R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	835	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)				TATTCAAGACAGTTACTCAGT	0.398										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(2503-2505)Agt>Cgt		FAT atypical cadherin 3							92	86	88					11																	92087781		1935	4146	6081	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087781A>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2503A>C	11.37:g.92087781A>C	ENSP00000298047:p.Ser835Arg	TCGA Ovarian(4;0.039)	Somatic				FAT3_ENST00000525166.1_Missense_Mutation_p.S685R|FAT3_ENST00000541502.1_Missense_Mutation_p.S835R|FAT3_ENST00000409404.2_Missense_Mutation_p.S835R	p.S835R			WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			1	2520	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	835			Cadherin 8.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.2503A>C		.	.	.	.	.	.	.	.	.	.	A	11.61	1.689693	0.29962	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.61158	4.6;4.6;0.13;4.6	5.71	4.58	0.56647	.	.	.	.	.	T	0.57989	0.2091	L	0.28274	0.84	0.33039	D	0.531241	D	0.76494	0.999	D	0.65773	0.938	T	0.60026	-0.7343	9	0.15066	T	0.55	.	10.6718	0.45762	0.9256:0.0:0.0744:0.0	.	835	Q8TDW7-3	.	R	835;835;835;685	ENSP00000298047:S835R;ENSP00000387040:S835R;ENSP00000443786:S835R;ENSP00000432586:S685R	ENSP00000298047:S835R	S	+	1	0	FAT3	91727429	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.819000	0.55686	1.003000	0.39130	0.383000	0.25322	AGT		0.398	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		20	17	0	0	0	1	0	20	17					C	92087781	A	C	92087781	3	2	48	1	0	0	0	0	1	0	0	0	5699	188	7	4	2505	4	FAT3	11	92087781	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1845	92087781	42918735	2785	7253										
FAT3	120114	broad.mit.edu	37	chr11	92498214	92498214	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaaattgtaggggtggtgtCtgtgcagccagctaacaccc	13	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92498214C>A	ENST00000298047.6	+	5	4171	c.4154C>A	c.(4153-4155)tCt>tAt	p.S1385Y	FAT3_ENST00000409404.2_Missense_Mutation_p.S1385Y|RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000525166.1_Missense_Mutation_p.S1235Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1385	Cadherin 13. {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)				GGGGTGGTGTCTGTGCAGCCA	0.438										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.(4153-4155)tCt>tAt		FAT atypical cadherin 3							102	104	103					11																	92498214		1929	4114	6043	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92498214C>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.4154C>A	11.37:g.92498214C>A	ENSP00000298047:p.Ser1385Tyr	TCGA Ovarian(4;0.039)	Somatic				FAT3_ENST00000525166.1_Missense_Mutation_p.S1235Y|RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Missense_Mutation_p.S1385Y	p.S1385Y			WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			5	4171	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1385			Cadherin 13.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4154C>A		.	.	.	.	.	.	.	.	.	.	C	22.8	4.336414	0.81801	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.62105	0.05;0.05;0.05	5.97	5.97	0.96955	.	.	.	.	.	D	0.82944	0.5147	M	0.89287	3.02	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	D	0.84994	0.0896	9	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	1385	Q8TDW7-3	.	Y	1385;1385;1235	ENSP00000298047:S1385Y;ENSP00000387040:S1385Y;ENSP00000432586:S1235Y	ENSP00000298047:S1385Y	S	+	2	0	FAT3	92137862	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.424000	0.80242	2.836000	0.97738	0.655000	0.94253	TCT		0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		10	20	1	0	0.00621372	1	0.0064192	10	20					A	92498214	C	A	92498214	3	1	48	1	0	0	0	0	1	0	0	0	5699	913	32	2	4172	2	FAT3	11	92498214	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	410433	92498214	42508302	2786	7254										
FAT3	120114	broad.mit.edu	37	chr11	92532534	92532534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ataaaggtccaaatggagaaGtgacctatgtcctgcaggat	11	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92532534G>T	ENST00000298047.6	+	9	6372	c.6355G>T	c.(6355-6357)Gtg>Ttg	p.V2119L	FAT3_ENST00000409404.2_Missense_Mutation_p.V2119L|FAT3_ENST00000525166.1_Missense_Mutation_p.V1969L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2119	Cadherin 19. {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)				AAATGGAGAAGTGACCTATGT	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.(6355-6357)Gtg>Ttg		FAT atypical cadherin 3							48	48	48					11																	92532534		1909	4127	6036	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532534G>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.6355G>T	11.37:g.92532534G>T	ENSP00000298047:p.Val2119Leu	TCGA Ovarian(4;0.039)	Somatic				FAT3_ENST00000525166.1_Missense_Mutation_p.V1969L|FAT3_ENST00000409404.2_Missense_Mutation_p.V2119L	p.V2119L			WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			9	6372	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2119			Cadherin 19.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6355G>T		.	.	.	.	.	.	.	.	.	.	G	20.7	4.041660	0.75732	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.02472	4.28;4.28;4.28	5.9	5.9	0.94986	.	.	.	.	.	T	0.13157	0.0319	L	0.50919	1.6	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.00115	-1.2038	9	0.56958	D	0.05	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	2119	Q8TDW7-3	.	L	2119;2119;1969	ENSP00000298047:V2119L;ENSP00000387040:V2119L;ENSP00000432586:V1969L	ENSP00000298047:V2119L	V	+	1	0	FAT3	92172182	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.787000	0.99055	2.806000	0.96561	0.655000	0.94253	GTG		0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	14	1	0	0.00116845	1	0.00122532	6	14					T	92532534	G	T	92532534	3	4	48	1	0	0	0	0	1	0	0	0	5699	1029	36	5	6389	5	FAT3	11	92532534	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	34320	92532534	42473982	2787	7255										
SLC36A4	120103	broad.mit.edu	37	chr11	92901248	92901248	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaaagcaaagcatatatatCcttaggtcaacacttcttct	5	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92901248C>T	ENST00000326402.4	-	7	760	c.630G>A	c.(628-630)agG>agA	p.R210R	SLC36A4_ENST00000529184.1_Silent_p.R75R	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	210					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCATATATATCCTTAGGTCAA	0.348																																						ENST00000326402.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(628-630)agG>agA		solute carrier family 36 (proton/amino acid symporter), member 4							130	129	129					11																	92901248		2201	4296	6497	SO:0001819	synonymous_variant	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92901248C>T	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"Solute carriers"	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.630G>A	11.37:g.92901248C>T			Somatic				SLC36A4_ENST00000529184.1_Silent_p.R75R	p.R210R	NM_152313.2	NP_689526.2	WXS	Illumina GAIIx	Phase_I	Q6YBV0	S36A4_HUMAN			7	760	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	210					Q86X30|Q8IVM5|Q8N8S6	Silent	SNP	ENST00000326402.4	37	c.630G>A	CCDS8291.1																																																																																				0.348	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			17	35	0	0	0	1	0	17	35					T	92901248	C	T	92901248	2	4	48	1	0	0	0	0	0	0	0	1	14611	854	30	3		3	SLC36A4	11	92901248	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	368714	92901248	42105268	2788	7256										
CCDC67	159989	broad.mit.edu	37	chr11	93104221	93104221	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagaaacaggcacaaagttaCcaaactcaactaaatggtaa	6	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:93104221C>G	ENST00000298050.3	+	7	664	c.564C>G	c.(562-564)taC>taG	p.Y188*		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	188					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CACAAAGTTACCAAACTCAAC	0.323																																						ENST00000298050.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(562-564)taC>taG		coiled-coil domain containing 67							51	48	49					11																	93104221		1821	4079	5900	SO:0001587	stop_gained	159989							g.chr11:93104221C>G	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.564C>G	11.37:g.93104221C>G	ENSP00000298050:p.Tyr188*		Somatic					p.Y188*	NM_181645.3	NP_857596.2	WXS	Illumina GAIIx	Phase_I	Q05D60	CCD67_HUMAN			7	664	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	188					Q8NEF1|Q96LL7	Nonsense_Mutation	SNP	ENST00000298050.3	37	c.564C>G	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	C	37	6.203864	0.97371	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819	.	.	.	5.61	4.7	0.59300	.	0.184679	0.38058	N	0.001838	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0673	0.19870	0.0:0.7616:0.0:0.2384	.	.	.	.	X	188	.	ENSP00000298050:Y188X	Y	+	3	2	CCDC67	92743869	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.160000	0.31761	2.650000	0.89964	0.655000	0.94253	TAC		0.323	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		10	11	0	0	0	1	0	10	11					G	93104221	C	G	93104221	4	3	48	1	0	0	0	0	0	1	0	0	2841	518	18	5	586	5	CCDC67	11	93104221	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	202973	93104221	41902295	2789	7257										
C11orf54	28970	broad.mit.edu	37	chr11	93487178	93487178	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggagcaggagcaggtccatTtcagactctcgggttcaatt	12	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:93487178T>G	ENST00000331239.4	+	5	484	c.305T>G	c.(304-306)tTt>tGt	p.F102C	C11orf54_ENST00000528288.1_Missense_Mutation_p.F102C|C11orf54_ENST00000528099.1_Missense_Mutation_p.F102C|C11orf54_ENST00000354421.3_Missense_Mutation_p.F102C|C11orf54_ENST00000540113.1_Missense_Mutation_p.F83C			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	102					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCAGGTCCATTTCAGACTCTC	0.338																																						ENST00000528288.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8						c.(304-306)tTt>tGt		chromosome 11 open reading frame 54							91	104	100					11																	93487178		2198	4298	6496	SO:0001583	missense	28970					nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding	g.chr11:93487178T>G	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.305T>G	11.37:g.93487178T>G	ENSP00000331209:p.Phe102Cys		Somatic				C11orf54_ENST00000540113.1_Missense_Mutation_p.F83C|C11orf54_ENST00000528099.1_Missense_Mutation_p.F102C|C11orf54_ENST00000354421.3_Missense_Mutation_p.F102C|C11orf54_ENST00000331239.4_Missense_Mutation_p.F102C	p.F102C	NM_014039.2	NP_054758.2	WXS	Illumina GAIIx	Phase_I	Q9H0W9	CK054_HUMAN			5	540	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	102					A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Missense_Mutation	SNP	ENST00000331239.4	37	c.305T>G		.	.	.	.	.	.	.	.	.	.	T	15.55	2.865515	0.51588	.	.	ENSG00000182919	ENST00000528288;ENST00000331239;ENST00000528099;ENST00000354421;ENST00000540113;ENST00000530620;ENST00000531650;ENST00000524485;ENST00000527363;ENST00000526335	.	.	.	4.95	4.95	0.65309	Domain of unknown function DUF1907 (1);	0.385067	0.32884	N	0.005536	T	0.60117	0.2244	M	0.68593	2.085	0.34774	D	0.733996	D;P;D	0.58620	0.983;0.956;0.983	P;P;P	0.60068	0.868;0.455;0.868	T	0.70963	-0.4729	9	0.46703	T	0.11	-10.086	3.087	0.06280	0.2057:0.1281:0.0:0.6662	.	102;102;102	Q9H0W9;Q9H0W9-3;A8K718	CK054_HUMAN;.;.	C	102;102;102;102;83;83;102;83;102;102	.	ENSP00000331209:F102C	F	+	2	0	C11orf54	93126826	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	1.247000	0.32815	2.090000	0.63153	0.482000	0.46254	TTT		0.338	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		8	99	0	0	0	1	0	8	99					G	93487178	T	G	93487178	3	3	48	1	0	0	0	0	1	0	0	0	1651	1841	64	4	319	4	C11orf54	11	93487178	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	382957	93487178	41519338	2790	7258										
HEPHL1	341208	broad.mit.edu	37	chr11	93796740	93796740	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catggttcctcctgggaaaaActacacctacgtctggccgg	10	13	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:93796740A>G	ENST00000315765.9	+	3	490	c.482A>G	c.(481-483)aAc>aGc	p.N161S		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	161	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)				CCTGGGAAAAACTACACCTAC	0.458																																						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.(481-483)aAc>aGc		hephaestin-like 1							49	51	50					11																	93796740		1925	4130	6055	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93796740A>G	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.482A>G	11.37:g.93796740A>G	ENSP00000313699:p.Asn161Ser		Somatic					p.N161S	NM_001098672.1	NP_001092142.1	WXS	Illumina GAIIx	Phase_I	Q6MZM0	HPHL1_HUMAN			3	490	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	161			Plastocyanin-like 1.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.482A>G	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	A	3.898	-0.022522	0.07634	.	.	ENSG00000181333	ENST00000315765	D	0.98531	-4.98	5.42	4.28	0.50868	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.132795	0.64402	D	0.000002	D	0.89602	0.6762	N	0.00642	-1.3	0.34467	D	0.702417	B	0.20887	0.049	B	0.24701	0.055	D	0.86096	0.1553	10	0.02654	T	1	.	12.4943	0.55918	0.8601:0.1399:0.0:0.0	.	161	Q6MZM0	HPHL1_HUMAN	S	161	ENSP00000313699:N161S	ENSP00000313699:N161S	N	+	2	0	HEPHL1	93436388	1.000000	0.71417	0.992000	0.48379	0.965000	0.64279	5.628000	0.67791	0.878000	0.35920	0.533000	0.62120	AAC		0.458	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		17	34	0	0	0	1	0	17	34					G	93796740	A	G	93796740	3	3	48	1	0	0	0	0	1	0	0	0	7064	43	2	4	492	4	HEPHL1	11	93796740	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	309562	93796740	41209776	2791	7259										
MRE11A	4361	broad.mit.edu	37	chr11	94178996	94178996	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catctataatagacatatttCtagatgctgacacagcagtc	6	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94178996C>A	ENST00000323929.3	-	16	2069	c.1847G>T	c.(1846-1848)aGa>aTa	p.R616I	MRE11A_ENST00000323977.3_Intron|MRE11A_ENST00000407439.3_Missense_Mutation_p.R619I|MRE11A_ENST00000393241.4_Missense_Mutation_p.R615I	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	616					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				AGACATATTTCTAGATGCTGA	0.383								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													ENST00000323929.3																			0				breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(1846-1848)aGa>aTa	Homologous recombination	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)							97	102	100					11																	94178996		2201	4298	6499	SO:0001583	missense	4361	Ataxia-Telangiectasia-Like Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94178996C>A	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"AT-like disease"	600814	"meiotic recombination (S. cerevisiae) 11 homolog A"	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1847G>T	11.37:g.94178996C>A	ENSP00000325863:p.Arg616Ile		Somatic				MRE11A_ENST00000393241.4_Missense_Mutation_p.R615I|MRE11A_ENST00000323977.3_Intron|MRE11A_ENST00000407439.3_Missense_Mutation_p.R619I	p.R616I	NM_005591.3	NP_005582.1	WXS	Illumina GAIIx	Phase_I	P49959	MRE11_HUMAN			16	2069	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	616					O43475	Missense_Mutation	SNP	ENST00000323929.3	37	c.1847G>T	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940030	0.52972	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000393241	T;T;T	0.75154	-0.91;-0.91;-0.91	5.53	3.27	0.37495	.	0.206543	0.50627	D	0.000101	T	0.57359	0.2048	L	0.36672	1.1	0.80722	D	1	B;B	0.33448	0.162;0.412	B;B	0.27887	0.084;0.062	T	0.57568	-0.7789	10	0.46703	T	0.11	-20.1635	5.2536	0.15534	0.0:0.692:0.0:0.308	.	619;616	B3KTC7;P49959	.;MRE11_HUMAN	I	616;619;615	ENSP00000325863:R616I;ENSP00000385614:R619I;ENSP00000376933:R615I	ENSP00000325863:R616I	R	-	2	0	MRE11A	93818644	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.680000	0.37607	1.477000	0.48234	0.650000	0.86243	AGA		0.383	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		30	52	1	0	1.74807e-11	1	2.17561e-11	30	52					A	94178996	C	A	94178996	3	1	48	1	0	0	0	0	1	0	0	0	9768	913	32	2	299	2	MRE11A	11	94178996	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	382256	94178996	40827520	2792	7260										
MRE11A	4361	broad.mit.edu	37	chr11	94224044	94224044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atttcatcgagtgttacaaaCgtatcatttcctctgactgc	6	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94224044C>T	ENST00000323929.3	-	3	330	c.108G>A	c.(106-108)acG>acA	p.T36T	MRE11A_ENST00000536144.1_5'UTR|MRE11A_ENST00000323977.3_Silent_p.T36T|MRE11A_ENST00000407439.3_Silent_p.T39T|MRE11A_ENST00000393241.4_Silent_p.T36T|ANKRD49_ENST00000544612.1_5'Flank|MRE11A_ENST00000540013.1_Silent_p.T36T	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	36					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GTGTTACAAACGTATCATTTC	0.328								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													ENST00000323929.3																			0				breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(106-108)acG>acA	Homologous recombination	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)							135	132	133					11																	94224044		2201	4298	6499	SO:0001819	synonymous_variant	4361	Ataxia-Telangiectasia-Like Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94224044C>T	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"AT-like disease"	600814	"meiotic recombination (S. cerevisiae) 11 homolog A"	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.108G>A	11.37:g.94224044C>T			Somatic				MRE11A_ENST00000393241.4_Silent_p.T36T|MRE11A_ENST00000323977.3_Silent_p.T36T|MRE11A_ENST00000536144.1_5'UTR|MRE11A_ENST00000407439.3_Silent_p.T39T|MRE11A_ENST00000540013.1_Silent_p.T36T	p.T36T	NM_005591.3	NP_005582.1	WXS	Illumina GAIIx	Phase_I	P49959	MRE11_HUMAN			3	330	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	36					O43475	Silent	SNP	ENST00000323929.3	37	c.108G>A	CCDS8299.1																																																																																				0.328	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		19	51	0	0	0	1	0	19	51					T	94224044	C	T	94224044	2	4	48	1	0	0	0	0	0	0	0	1	9768	523	19	1		1	MRE11A	11	94224044	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	45048	94224044	40782472	2793	7261										
ANKRD49	54851	broad.mit.edu	37	chr11	94229989	94229989	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcctactggtactcaaagtCtttgggtaggcaattctgat	9	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94229989C>A	ENST00000544612.1	+	2	627	c.130C>A	c.(130-132)Ctt>Att	p.L44I	MRE11A_ENST00000323929.3_5'Flank|MRE11A_ENST00000323977.3_5'Flank|MRE11A_ENST00000407439.3_5'Flank|ANKRD49_ENST00000302755.4_Missense_Mutation_p.L44I|MRE11A_ENST00000393241.4_5'Flank|ANKRD49_ENST00000540349.1_Missense_Mutation_p.L44I|MRE11A_ENST00000540013.1_5'Flank|ANKRD49_ENST00000544253.1_Missense_Mutation_p.L44I	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	44					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACTCAAAGTCTTTGGGTAGG	0.373																																					Melanoma(113;823 1621 4352 9582 22033)	ENST00000544253.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12						c.(130-132)Ctt>Att		ankyrin repeat domain 49							135	146	142					11																	94229989		2201	4298	6499	SO:0001583	missense	54851				positive regulation of transcription, DNA-dependent			g.chr11:94229989C>A	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"Ankyrin repeat domain containing"	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.130C>A	11.37:g.94229989C>A	ENSP00000440396:p.Leu44Ile		Somatic				ANKRD49_ENST00000540349.1_Missense_Mutation_p.L44I|ANKRD49_ENST00000544612.1_Missense_Mutation_p.L44I|ANKRD49_ENST00000302755.4_Missense_Mutation_p.L44I	p.L44I			WXS	Illumina GAIIx	Phase_I	Q8WVL7	ANR49_HUMAN			2	248	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	44					Q8NDF2|Q96JE5|Q9NXK7	Missense_Mutation	SNP	ENST00000544612.1	37	c.130C>A	CCDS8300.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975658	0.53720	.	.	ENSG00000168876	ENST00000544612;ENST00000540349;ENST00000535502;ENST00000545130;ENST00000544253;ENST00000541144;ENST00000302755	T;T;T	0.46819	0.86;0.86;0.86	5.31	5.31	0.75309	.	0.273852	0.35739	N	0.003007	T	0.62974	0.2472	M	0.66939	2.045	0.35784	D	0.821852	D;P	0.69078	0.997;0.666	D;B	0.66196	0.942;0.162	T	0.69060	-0.5245	10	0.35671	T	0.21	-12.0392	12.7814	0.57479	0.0:0.9148:0.0:0.0852	.	44;44	F6R851;Q8WVL7	.;ANR49_HUMAN	I	44	ENSP00000440396:L44I;ENSP00000442449:L44I;ENSP00000303518:L44I	ENSP00000303518:L44I	L	+	1	0	ANKRD49	93869637	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.055000	0.30467	2.473000	0.83533	0.591000	0.81541	CTT		0.373	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		12	105	1	0	3.07112e-06	1	3.42433e-06	12	105					A	94229989	C	A	94229989	3	1	48	1	0	0	0	0	1	0	0	0	675	913	32	2	132	2	ANKRD49	11	94229989	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5945	94229989	40776527	2794	7262										
PIWIL4	143689	broad.mit.edu	37	chr11	94310616	94310616	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccaacaaagcaaaagcattCgacggtgccatcctttttct	6	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94310616C>T	ENST00000299001.6	+	4	682	c.471C>T	c.(469-471)ttC>ttT	p.F157F	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	157					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|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)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAAAAGCATTCGACGGTGCCA	0.343																																						ENST00000299001.6																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30						c.(469-471)ttC>ttT		piwi-like RNA-mediated gene silencing 4							74	74	74					11																	94310616		2201	4298	6499	SO:0001819	synonymous_variant	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94310616C>T	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.471C>T	11.37:g.94310616C>T			Somatic				RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	p.F157F	NM_152431.2	NP_689644.2	WXS	Illumina GAIIx	Phase_I	Q7Z3Z4	PIWL4_HUMAN			4	682	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	157					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	ENST00000299001.6	37	c.471C>T	CCDS31656.1																																																																																				0.343	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		15	21	0	0	0	1	0	15	21					T	94310616	C	T	94310616	2	4	48	1	0	0	0	0	0	0	0	1	11969	883	31	1		1	PIWIL4	11	94310616	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	80627	94310616	40695900	2795	7263										
PIWIL4	143689	broad.mit.edu	37	chr11	94318621	94318621	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atacttgcaggatcctcaaaAagttgtccatgtaccaaatt	6	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94318621A>C	ENST00000299001.6	+	6	857	c.646A>C	c.(646-648)Aag>Cag	p.K216Q	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	216					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|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)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GATCCTCAAAAAGTTGTCCAT	0.333																																						ENST00000299001.6																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30						c.(646-648)Aag>Cag		piwi-like RNA-mediated gene silencing 4							114	120	118					11																	94318621		2201	4297	6498	SO:0001583	missense	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94318621A>C	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.646A>C	11.37:g.94318621A>C	ENSP00000299001:p.Lys216Gln		Somatic				RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	p.K216Q	NM_152431.2	NP_689644.2	WXS	Illumina GAIIx	Phase_I	Q7Z3Z4	PIWL4_HUMAN			6	857	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	216					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	c.646A>C	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.113906	0.37339	.	.	ENSG00000134627	ENST00000299001	T	0.09911	2.93	4.87	4.87	0.63330	Argonaute/Dicer protein, PAZ (1);	0.265813	0.31747	N	0.007123	T	0.12603	0.0306	L	0.55834	1.745	0.80722	D	1	B	0.21821	0.061	B	0.23275	0.045	T	0.05632	-1.0873	10	0.26408	T	0.33	-8.5669	13.5809	0.61903	1.0:0.0:0.0:0.0	.	216	Q7Z3Z4	PIWL4_HUMAN	Q	216	ENSP00000299001:K216Q	ENSP00000299001:K216Q	K	+	1	0	PIWIL4	93958269	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	7.336000	0.79245	2.048000	0.60808	0.459000	0.35465	AAG		0.333	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		33	75	0	0	0	1	0	33	75					C	94318621	A	C	94318621	3	2	48	1	0	0	0	0	1	0	0	0	11969	15	1	4	668	4	PIWIL4	11	94318621	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	8005	94318621	40687895	2796	7264										
PIWIL4	143689	broad.mit.edu	37	chr11	94322371	94322371	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagaagcgggatggcaccgaGatcacctatgtggattacta	12	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94322371G>T	ENST00000299001.6	+	8	1210	c.999G>T	c.(997-999)gaG>gaT	p.E333D	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	333	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|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)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGGCACCGAGATCACCTATG	0.423																																						ENST00000299001.6																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30						c.(997-999)gaG>gaT		piwi-like RNA-mediated gene silencing 4							179	164	169					11																	94322371		2201	4298	6499	SO:0001583	missense	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94322371G>T	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.999G>T	11.37:g.94322371G>T	ENSP00000299001:p.Glu333Asp		Somatic				RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	p.E333D	NM_152431.2	NP_689644.2	WXS	Illumina GAIIx	Phase_I	Q7Z3Z4	PIWL4_HUMAN			8	1210	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	333			PAZ.		B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	c.999G>T	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881831	0.51908	.	.	ENSG00000134627	ENST00000299001	T	0.16073	2.37	4.97	4.97	0.65823	Argonaute/Dicer protein, PAZ (4);	0.284575	0.30076	N	0.010471	T	0.18551	0.0445	L	0.42581	1.335	0.80722	D	1	B	0.12013	0.005	B	0.21546	0.035	T	0.03139	-1.1068	10	0.30854	T	0.27	-21.9954	17.3617	0.87353	0.0:0.0:1.0:0.0	.	333	Q7Z3Z4	PIWL4_HUMAN	D	333	ENSP00000299001:E333D	ENSP00000299001:E333D	E	+	3	2	PIWIL4	93962019	0.984000	0.35163	0.975000	0.42487	0.972000	0.66771	0.431000	0.21444	2.440000	0.82611	0.561000	0.74099	GAG		0.423	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		20	45	1	0	2.4624e-09	1	2.95225e-09	20	45					T	94322371	G	T	94322371	3	4	48	1	0	0	0	0	1	0	0	0	11969	933	33	2	1029	2	PIWIL4	11	94322371	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3750	94322371	40684145	2797	7265										
KDM4D	55693	broad.mit.edu	37	chr11	94732052	94732052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaagcctgtaccactgagcCcagggctccagcatcctgtc	9	16	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94732052C>T	ENST00000335080.5	+	3	2348	c.1516C>T	c.(1516-1518)Cca>Tca	p.P506S	KDM4D_ENST00000536741.1_Missense_Mutation_p.P506S	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	506					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACCACTGAGCCCAGGGCTCCA	0.617																																						ENST00000335080.5																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1516-1518)Cca>Tca		lysine (K)-specific demethylase 4D							30	29	30					11																	94732052		2201	4294	6495	SO:0001583	missense	55693				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.chr11:94732052C>T	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"Chromatin-modifying enzymes / K-demethylases"	25498	protein-coding gene	gene with protein product		609766	"jumonji domain containing 2D"	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1516C>T	11.37:g.94732052C>T	ENSP00000334181:p.Pro506Ser		Somatic				KDM4D_ENST00000536741.1_Missense_Mutation_p.P506S	p.P506S	NM_018039.2	NP_060509.2	WXS	Illumina GAIIx	Phase_I	Q6B0I6	KDM4D_HUMAN			3	2348	+			506					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.1516C>T	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285991	0.23478	.	.	ENSG00000186280	ENST00000335080	T	0.35973	1.28	3.24	2.33	0.28932	.	0.277147	0.23435	U	0.048216	T	0.22437	0.0541	L	0.29908	0.895	0.09310	N	1	B	0.21381	0.055	B	0.23150	0.044	T	0.12400	-1.0549	10	0.30854	T	0.27	-2.6262	6.2214	0.20683	0.0:0.8624:0.0:0.1375	.	506	Q6B0I6	KDM4D_HUMAN	S	506	ENSP00000334181:P506S	ENSP00000334181:P506S	P	+	1	0	KDM4D	94371700	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.314000	0.19432	0.936000	0.37367	0.561000	0.74099	CCA		0.617	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		19	24	0	0	0	1	0	19	24					T	94732052	C	T	94732052	3	4	48	1	0	0	0	0	1	0	0	0	8140	623	22	3	1518	3	KDM4D	11	94732052	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	409681	94732052	40274464	2798	7266										
MTMR2	8898	broad.mit.edu	37	chr11	95578263	95578263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accatcactgcaatgcactaCcacagacgtcttccctgact	5	16	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:95578263C>T	ENST00000346299.5	-	11	1580	c.1240G>A	c.(1240-1242)Gta>Ata	p.V414I	MTMR2_ENST00000409459.1_Missense_Mutation_p.V342I|MTMR2_ENST00000352297.7_Missense_Mutation_p.V342I|MTMR2_ENST00000393223.3_Missense_Mutation_p.V342I	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	414	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)				CAATGCACTACCACAGACGTC	0.448																																						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.(1024-1026)Gta>Ata		myotubularin related protein 2							149	129	136					11																	95578263		2201	4298	6499	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95578263C>T	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.1240G>A	11.37:g.95578263C>T	ENSP00000345752:p.Val414Ile		Somatic				MTMR2_ENST00000352297.7_Missense_Mutation_p.V342I|MTMR2_ENST00000409459.1_Missense_Mutation_p.V342I|MTMR2_ENST00000346299.5_Missense_Mutation_p.V414I	p.V342I	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	WXS	Illumina GAIIx	Phase_I	Q13614	MTMR2_HUMAN			13	1686	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	414			Myotubularin phosphatase.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.1024G>A	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805948	0.31961	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541	D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65	5.9	4.99	0.66335	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.86965	0.6060	L	0.35288	1.05	0.80722	D	1	B;B	0.32781	0.384;0.384	B;B	0.35899	0.213;0.178	D	0.86058	0.1530	10	0.52906	T	0.07	.	15.3519	0.74396	0.0:0.9333:0.0:0.0667	.	414;414	A8K5G2;Q13614	.;MTMR2_HUMAN	I	414;342;342;342;342	ENSP00000345752:V414I;ENSP00000376915:V342I;ENSP00000386882:V342I;ENSP00000343737:V342I;ENSP00000396020:V342I	ENSP00000345752:V414I	V	-	1	0	MTMR2	95217911	1.000000	0.71417	0.905000	0.35620	0.029000	0.11900	3.257000	0.51500	1.513000	0.48852	-0.222000	0.12452	GTA		0.448	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		21	29	0	0	0	1	0	21	29					T	95578263	C	T	95578263	3	4	48	1	0	0	0	0	1	0	0	0	9953	507	18	3	711	3	MTMR2	11	95578263	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	846211	95578263	39428253	2799	7267										
MAML2	84441	broad.mit.edu	37	chr11	95826576	95826576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagagattctccccaacacGaattcttttgatatcaagaa	6	9	3	4	rs375950360		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:95826576G>A	ENST00000524717.1	-	2	1903	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	207					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TCCCCAACACGAATTCTTTTG	0.458			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"MECT1, CRTC3"		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(619-621)Cgt>Tgt		mastermind-like 2 (Drosophila)		G	CYS/ARG	0,3746		0,0,1873	111	106	108		619	2.4	0.7	11		108	1,8243		0,1,4121	no	missense	MAML2	NM_032427.1	180	0,1,5994	AA,AG,GG		0.0121,0.0,0.0083	benign	207/1157	95826576	1,11989	1873	4122	5995	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.chr11:95826576G>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.619C>T	11.37:g.95826576G>A	ENSP00000434552:p.Arg207Cys		Somatic					p.R207C	NM_032427.1	NP_115803.1	WXS	Illumina GAIIx	Phase_I	Q8IZL2	MAML2_HUMAN			2	1903	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	207					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.619C>T	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	6.093	0.385392	0.11524	0.0	1.21E-4	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.55760	0.5;0.5	5.32	2.36	0.29203	.	0.226096	0.29218	N	0.012781	T	0.38241	0.1033	L	0.42245	1.32	0.35103	D	0.765385	B	0.26809	0.16	B	0.13407	0.009	T	0.37596	-0.9699	10	0.56958	D	0.05	-0.7583	5.7111	0.17935	0.1517:0.0:0.4419:0.4063	.	207	Q8IZL2	MAML2_HUMAN	C	207	ENSP00000434552:R207C;ENSP00000412394:R207C	ENSP00000412394:R207C	R	-	1	0	MAML2	95466224	1.000000	0.71417	0.658000	0.29665	0.008000	0.06430	2.779000	0.47734	0.210000	0.20664	0.557000	0.71058	CGT		0.458	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			26	57	0	0	0	1	0	26	57					A	95826576	G	A	95826576	3	1	48	1	0	0	0	0	1	0	0	0	9215	1058	37	1	2867	1	MAML2	11	95826576	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	248313	95826576	39179940	2800	7268										
JRKL	8690	broad.mit.edu	37	chr11	96123832	96123832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctatgtcagggaaacggaagCgtgtggtgttgactattaaa	13	5	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:96123832C>T	ENST00000332349.4	+	2	266	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	JRKL_ENST00000546177.1_Intron|CCDC82_ENST00000278520.5_5'Flank|CCDC82_ENST00000525786.1_5'Flank|JRKL_ENST00000458427.1_Missense_Mutation_p.R7C|CCDC82_ENST00000542662.1_5'Flank	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	7	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.				central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GAAACGGAAGCGTGTGGTGTT	0.428																																						ENST00000458427.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11						c.(19-21)Cgt>Tgt		jerky homolog-like (mouse)							84	86	86					11																	96123832		2201	4298	6499	SO:0001583	missense	8690				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:96123832C>T	AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"erky (mouse) homolog-like", "jerky homolog-like (mouse)"			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.19C>T	11.37:g.96123832C>T	ENSP00000333350:p.Arg7Cys		Somatic				JRKL_ENST00000332349.4_Missense_Mutation_p.R7C|JRKL_ENST00000546177.1_Intron	p.R7C	NM_003772.3	NP_003763.2	WXS	Illumina GAIIx	Phase_I	Q9Y4A0	JERKL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.148)	1	675	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	7			HTH psq-type.		A8K3G4|B2RAJ3|Q32MC2	Missense_Mutation	SNP	ENST00000332349.4	37	c.19C>T	CCDS8308.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272640	0.59649	.	.	ENSG00000183340	ENST00000332349;ENST00000458427	T;T	0.61158	0.13;0.13	4.47	4.47	0.54385	Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	0.000000	0.38217	U	0.001779	T	0.74053	0.3666	M	0.75615	2.305	0.48901	D	0.999724	D	0.89917	1.0	D	0.87578	0.998	T	0.77726	-0.2480	10	0.87932	D	0	-10.7173	12.6261	0.56630	0.0:1.0:0.0:0.0	.	7	Q9Y4A0	JERKL_HUMAN	C	7	ENSP00000333350:R7C;ENSP00000389989:R7C	ENSP00000333350:R7C	R	+	1	0	JRKL	95763480	1.000000	0.71417	0.986000	0.45419	0.938000	0.57974	1.628000	0.37060	2.047000	0.60756	0.455000	0.32223	CGT		0.428	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337775.2	NM_003772		14	34	0	0	0	1	0	14	34					T	96123832	C	T	96123832	3	4	48	1	0	0	0	0	1	0	0	0	7974	768	27	1	21	1	JRKL	11	96123832	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	297256	96123832	38882684	2801	7269										
CNTN5	53942	broad.mit.edu	37	chr11	99827539	99827539	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaattttgtgtattttcagaGatcatctatagctgggtatt	8	4	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:99827539G>T	ENST00000524871.1	+	8	965	c.675G>T	c.(673-675)gaG>gaT	p.E225D	CNTN5_ENST00000527185.1_Splice_Site_p.E225D|CNTN5_ENST00000279463.3_Splice_Site_p.E225D|CNTN5_ENST00000528682.1_Splice_Site_p.E225D|CNTN5_ENST00000418526.2_Splice_Site_p.E151D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	225	Ig-like C2-type 2.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TATTTTCAGAGATCATCTATA	0.383																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.e8-1		contactin 5							81	74	76					11																	99827539		1831	4078	5909	SO:0001630	splice_region_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99827539G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.674-1G>T	11.37:g.99827539G>T			Somatic				CNTN5_ENST00000418526.2_Splice_Site_p.E151_splice|CNTN5_ENST00000528682.1_Splice_Site_p.E225_splice|CNTN5_ENST00000279463.3_Splice_Site_p.E225_splice|CNTN5_ENST00000527185.1_Splice_Site_p.E225_splice	p.E225_splice	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)	8	965	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	225			Ig-like C2-type 2.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Splice_Site	SNP	ENST00000524871.1	37	c.673_splice	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	9.990	1.230679	0.22542	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71	5.47	3.41	0.39046	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.109105	0.64402	D	0.000007	T	0.12603	0.0306	L	0.28694	0.88	0.49299	D	0.999778	B;B;B	0.30870	0.298;0.033;0.298	B;B;B	0.41619	0.361;0.086;0.274	T	0.10497	-1.0627	10	0.11182	T	0.66	.	10.5971	0.45345	0.2344:0.0:0.7656:0.0	.	225;151;225	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	D	225;225;225;151;225	ENSP00000433575:E225D;ENSP00000436185:E225D;ENSP00000435637:E225D;ENSP00000393229:E151D;ENSP00000279463:E225D	ENSP00000279463:E225D	E	+	3	2	CNTN5	99332749	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.513000	0.45494	0.657000	0.30906	0.585000	0.79938	GAG		0.383	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	Missense_Mutation	4	21	1	0	0.150653	1	0.151842	4	21					T	99827539	G	T	99827539	5	4	48	1	0	0	0	0	0	0	1	0	3646	956	33	2	697	2	CNTN5	11	99827539	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3703707	99827539	35178977	2802	7270										
CNTN5	53942	broad.mit.edu	37	chr11	99872788	99872788	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgatgggagaatatgagccGaaaattgaggtccattttcc	12	6	0	4	rs200186014		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:99872788G>A	ENST00000524871.1	+	9	1190	c.900G>A	c.(898-900)ccG>ccA	p.P300P	CNTN5_ENST00000527185.1_Silent_p.P300P|CNTN5_ENST00000279463.3_Silent_p.P300P|CNTN5_ENST00000528682.1_Silent_p.P300P|CNTN5_ENST00000418526.2_Silent_p.P226P	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	300	Ig-like C2-type 3.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATATGAGCCGAAAATTGAGG	0.363																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(898-900)ccG>ccA		contactin 5		G	,	0,3686		0,0,1843	95	92	93		900,678	2.7	1	11		93	2,8190		0,2,4094	no	coding-synonymous,coding-synonymous	CNTN5	NM_014361.3,NM_175566.2	,	0,2,5937	AA,AG,GG		0.0244,0.0,0.0168	,	300/1101,226/1027	99872788	2,11876	1843	4096	5939	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99872788G>A	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.900G>A	11.37:g.99872788G>A			Somatic				CNTN5_ENST00000418526.2_Silent_p.P226P|CNTN5_ENST00000528682.1_Silent_p.P300P|CNTN5_ENST00000279463.3_Silent_p.P300P|CNTN5_ENST00000527185.1_Silent_p.P300P	p.P300P	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)	9	1190	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	300			Ig-like C2-type 3.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.900G>A	CCDS53696.1																																																																																				0.363	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		3	4	0	0	0	1	0	3	4					A	99872788	G	A	99872788	2	1	48	1	0	0	0	0	0	0	0	1	3646	1045	37	1		1	CNTN5	11	99872788	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	45249	99872788	35133728	2803	7271										
PGR	5241	broad.mit.edu	37	chr11	100922293	100922293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtcatcaatatgtaagtttCgaaaacctacaaaacaaatt	5	7	2	0	rs149186732	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:100922293C>T	ENST00000325455.5	-	5	3672	c.2219G>A	c.(2218-2220)cGa>cAa	p.R740Q	PGR_ENST00000263463.5_Missense_Mutation_p.R638Q|PGR_ENST00000534013.1_Missense_Mutation_p.R146Q	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	740	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R740Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	ATGTAAGTTTCGAAAACCTAC	0.328																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			1	Substitution - Missense(1)	p.R740Q(1)	liver(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(2218-2220)cGa>cAa		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)	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	75	77	76		2219,1727	5.2	1	11	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	PGR	NM_000926.4,NM_001202474.1	43,43	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	740/934,576/770	100922293	3,13003	2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100922293C>T	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2219G>A	11.37:g.100922293C>T	ENSP00000325120:p.Arg740Gln		Somatic				PGR_ENST00000534013.1_Missense_Mutation_p.R146Q|PGR_ENST00000263463.5_Missense_Mutation_p.R638Q	p.R740Q	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	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)	5	3672	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	740			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.2219G>A	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039590	0.93630	2.27E-4	2.33E-4	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	D;D;D	0.96716	-4.1;-4.1;-4.1	5.24	5.24	0.73138	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	M	0.69185	2.1	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.99;0.988;0.998	D	0.98745	1.0718	10	0.87932	D	0	.	18.8379	0.92169	0.0:1.0:0.0:0.0	.	638;740;121	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	Q	740;146;638;638	ENSP00000325120:R740Q;ENSP00000436561:R146Q;ENSP00000263463:R638Q	ENSP00000263463:R638Q	R	-	2	0	PGR	100427503	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.872000	0.63050	2.435000	0.82474	0.650000	0.86243	CGA		0.328	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			17	28	0	0	0	1	0	17	28					T	100922293	C	T	100922293	3	4	48	1	0	0	0	0	1	0	0	0	11814	884	31	1	598	1	PGR	11	100922293	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1049505	100922293	34084223	2804	7272										
TRPC6	7225	broad.mit.edu	37	chr11	101362288	101362288	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcttcacgcctgaccttactTtttttacttcatatttaatg	4	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:101362288T>G	ENST00000344327.3	-	3	1551	c.1127A>C	c.(1126-1128)aAa>aCa	p.K376T	TRPC6_ENST00000532133.1_Splice_Site_p.K376T|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000360497.4_Splice_Site_p.K376T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	376					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)		TGACCTTACTTTTTTTACTTC	0.403																																					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.e3+1		transient receptor potential cation channel, subfamily C, member 6							119	126	123					11																	101362288		2203	4299	6502	SO:0001630	splice_region_variant	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.chr11:101362288T>G	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.1128+1A>C	11.37:g.101362288T>G			Somatic				TRPC6_ENST00000532133.1_Splice_Site_p.K376_splice|TRPC6_ENST00000360497.4_Splice_Site_p.K376_splice|TRPC6_ENST00000348423.4_Intron	p.K376_splice	NM_004621.5	NP_004612.2	WXS	Illumina GAIIx	Phase_I	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	3	1551	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	376					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Splice_Site	SNP	ENST00000344327.3	37	c.1128_splice	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.858374	0.91433	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000360497	T;T;T	0.73152	-0.72;-0.72;-0.72	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.83096	0.5180	M	0.66506	2.035	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.969;0.997	T	0.83336	-0.0010	10	0.51188	T	0.08	-13.3179	16.806	0.85666	0.0:0.0:0.0:1.0	.	376;376	Q9Y210-3;Q9Y210	.;TRPC6_HUMAN	T	376	ENSP00000340913:K376T;ENSP00000435574:K376T;ENSP00000353687:K376T	ENSP00000340913:K376T	K	-	2	0	TRPC6	100867498	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.837000	0.86796	2.367000	0.80283	0.529000	0.55759	AAA		0.403	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621	Missense_Mutation	50	80	0	0	0	1	0	50	80					G	101362288	T	G	101362288	5	3	48	1	0	0	0	0	0	0	1	0	16598	1855	64	4	1712	4	TRPC6	11	101362288	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	439995	101362288	33644228	2805	7273										
KIAA1377	57562	broad.mit.edu	37	chr11	101833270	101833270	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgaattgaaagatggtaaaGaagaagagataaaatatttt	9	0	0	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:101833270G>T	ENST00000263468.8	+	6	1774	c.1504G>T	c.(1504-1506)Gaa>Taa	p.E502*	KIAA1377_ENST00000537689.1_Nonsense_Mutation_p.E303*	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	502										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)		AGATGGTAAAGAAGAAGAGAT	0.323																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(1504-1506)Gaa>Taa		KIAA1377							37	37	37					11																	101833270		2203	4296	6499	SO:0001587	stop_gained	57562						protein binding	g.chr11:101833270G>T	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.1504G>T	11.37:g.101833270G>T	ENSP00000263468:p.Glu502*		Somatic				KIAA1377_ENST00000537689.1_Nonsense_Mutation_p.E303*	p.E502*	NM_020802.2	NP_065853.2	WXS	Illumina GAIIx	Phase_I	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	1774	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	502					Q4G0U6	Nonsense_Mutation	SNP	ENST00000263468.8	37	c.1504G>T	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	37	6.143527	0.97320	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	.	.	.	5.02	2.02	0.26589	.	0.628571	0.15622	N	0.252848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-2.2471	2.6735	0.05075	0.1599:0.1531:0.5385:0.1484	.	.	.	.	X	502;303	.	ENSP00000263468:E502X	E	+	1	0	KIAA1377	101338480	0.789000	0.28775	0.128000	0.21923	0.011000	0.07611	1.361000	0.34136	0.204000	0.20548	-0.309000	0.09137	GAA		0.323	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		10	10	1	0	0.00829132	1	0.00855608	10	10					T	101833270	G	T	101833270	4	4	48	1	0	0	0	0	0	1	0	0	8236	943	33	2	1526	2	KIAA1377	11	101833270	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	470982	101833270	33173246	2806	7274										
MMP1	4312	broad.mit.edu	37	chr11	102665933	102665933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaagaacatcacttctccccGaatcgtagttatagcatcaa	5	11	3	1	rs200225512		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:102665933G>A	ENST00000315274.6	-	6	938	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	291					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)	ACTTCTCCCCGAATCGTAGTT	0.398													G|||	1	0.000199681	0	0	5008	,	,		21389	0		0	False		,,,				2504	0.001					ENST00000315274.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(871-873)Cgg>Tgg		matrix metallopeptidase 1 (interstitial collagenase)							176	159	165					11																	102665933		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.chr11:102665933G>A	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.871C>T	11.37:g.102665933G>A	ENSP00000322788:p.Arg291Trp		Somatic				WTAPP1_ENST00000525739.2_RNA	p.R291W	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)	6	938	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	291			Hemopexin-like 1.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.871C>T	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	g	17.77	3.471355	0.63737	.	.	ENSG00000196611	ENST00000315274	T	0.17054	2.3	5.73	4.73	0.59995	Hemopexin/matrixin (2);	0.000000	0.64402	D	0.000016	T	0.51261	0.1664	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62779	-0.6782	10	0.87932	D	0	.	10.9805	0.47490	0.0:0.1241:0.692:0.1839	.	291	P03956	MMP1_HUMAN	W	291	ENSP00000322788:R291W	ENSP00000322788:R291W	R	-	1	2	MMP1	102171143	0.989000	0.36119	0.942000	0.38095	0.720000	0.41350	2.219000	0.42899	1.325000	0.45301	0.655000	0.94253	CGG		0.398	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		6	94	0	0	0	1	0	6	94					A	102665933	G	A	102665933	3	1	48	1	0	0	0	0	1	0	0	0	9657	1057	37	1	558	1	MMP1	11	102665933	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	832663	102665933	32340583	2807	7275										
MMP12	4321	broad.mit.edu	37	chr11	102736613	102736613	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaaccaaaagaatgtatgcTcttgggataatttggctctg	9	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:102736613T>G	ENST00000532855.1	-	0	1194							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	GAATGTATGCTCTTGGGATAA	0.328																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)						68	67	67					11																	102736613		1797	4059	5856			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.chr11:102736613T>G	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.102736613T>G			Somatic								WXS	Illumina GAIIx	Phase_I	P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	1194	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	ENST00000532855.1	37																																																																																						0.328	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		13	23	0	0	0	1	0	13	23					G	102736613	T	G	102736613	1	3	48	0	1	0	0	0	0	0	0	0	9660	1551	54	4		4	MMP12	11	102736613	RNA	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	70680	102736613	32269903	2808	7276										
MMP13	4322	broad.mit.edu	37	chr11	102815028	102815028	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atggaatttgctggcatgacGcgaacaatacggttactcca	10	9	0	1	rs374512736		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:102815028G>A	ENST00000260302.3	-	10	1411	c.1383C>T	c.(1381-1383)cgC>cgT	p.R461R		NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	461	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)	CTGGCATGACGCGAACAATAC	0.358																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(1381-1383)cgC>cgT		matrix metallopeptidase 13 (collagenase 3)		G		0,4404		0,0,2202	137	150	146		1383	-12	0.2	11		146	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	MMP13	NM_002427.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		461/472	102815028	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102815028G>A	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.1383C>T	11.37:g.102815028G>A			Somatic					p.R461R	NM_002427.3	NP_002418.1	WXS	Illumina GAIIx	Phase_I	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	10	1411	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	461			Hemopexin-like 4.		A8K846|B2RCZ3|Q6NWN6	Silent	SNP	ENST00000260302.3	37	c.1383C>T	CCDS8324.1																																																																																				0.358	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		18	159	0	0	0	1	0	18	159					A	102815028	G	A	102815028	2	1	48	1	0	0	0	0	0	0	0	1	9661	1074	38	1		1	MMP13	11	102815028	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	78415	102815028	32191488	2809	7277										
DYNC2H1	79659	broad.mit.edu	37	chr11	103027492	103027492	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcttcaacagagttgatgaaGattttaggtcagtacaatga	10	5	2	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:103027492G>A	ENST00000375735.2	+	26	4264	c.4120G>A	c.(4120-4122)Gat>Aat	p.D1374N	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D1374N|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	1374	Stem. {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)		AGTTGATGAAGATTTTAGGTC	0.338																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(4120-4122)Gat>Aat		dynein, cytoplasmic 2, heavy chain 1							56	54	55					11																	103027492		1840	4086	5926	SO:0001583	missense	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.chr11:103027492G>A	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.4120G>A	11.37:g.103027492G>A	ENSP00000364887:p.Asp1374Asn		Somatic				DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D1374N	p.D1374N	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)	26	4264	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1374			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.4120G>A	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.748996	0.69533	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.60548	0.18;0.18	5.27	5.27	0.74061	Dynein heavy chain, domain-2 (1);	0.426262	0.19685	N	0.108420	T	0.58148	0.2102	M	0.62209	1.925	0.58432	D	0.999991	P;P	0.39748	0.529;0.686	B;B	0.41202	0.35;0.322	T	0.58831	-0.7567	10	0.38643	T	0.18	.	14.1461	0.65351	0.0742:0.0:0.9258:0.0	.	1374;1374	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	N	1374	ENSP00000364887:D1374N;ENSP00000381167:D1374N	ENSP00000364887:D1374N	D	+	1	0	DYNC2H1	102532702	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.372000	0.79612	2.472000	0.83506	0.563000	0.77884	GAT		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		19	35	0	0	0	1	0	19	35					A	103027492	G	A	103027492	3	1	48	1	0	0	0	0	1	0	0	0	4848	942	33	3	4222	3	DYNC2H1	11	103027492	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	212464	103027492	31979024	2810	7278										
DDI1	414301	broad.mit.edu	37	chr11	103908440	103908440	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaaggagtgggcacacagaGaattattggccgtgttcatc	12	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:103908440G>T	ENST00000302259.3	+	1	1133	c.890G>T	c.(889-891)aGa>aTa	p.R297I	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	297							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGCACACAGAGAATTATTGGC	0.483																																						ENST00000302259.3																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(889-891)aGa>aTa		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							124	114	117					11																	103908440		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908440G>T		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.890G>T	11.37:g.103908440G>T	ENSP00000302805:p.Arg297Ile		Somatic				PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	p.R297I	NM_001001711.2	NP_001001711.1	WXS	Illumina GAIIx	Phase_I	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1133	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	297					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.890G>T	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	7.257	0.604368	0.14002	.	.	ENSG00000170967	ENST00000302259	T	0.48201	0.82	5.21	0.0935	0.14477	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.050180	0.85682	D	0.000000	T	0.33411	0.0862	L	0.47016	1.485	0.47183	D	0.999345	B	0.06786	0.001	B	0.09377	0.004	T	0.11767	-1.0574	10	0.62326	D	0.03	-10.7267	3.8431	0.08923	0.2129:0.0:0.3427:0.4445	.	297	Q8WTU0	DDI1_HUMAN	I	297	ENSP00000302805:R297I	ENSP00000302805:R297I	R	+	2	0	DDI1	103413650	1.000000	0.71417	0.029000	0.17559	0.026000	0.11368	4.618000	0.61211	0.144000	0.18951	-0.953000	0.02652	AGA		0.483	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		7	86	1	0	0.00198382	1	0.00207034	7	86					T	103908440	G	T	103908440	3	4	48	1	0	0	0	0	1	0	0	0	4330	942	33	2	892	2	DDI1	11	103908440	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	880948	103908440	31098076	2811	7279										
DDI1	414301	broad.mit.edu	37	chr11	103908701	103908701	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagtcttcggacaaggaaaTtacacattcagtcatggatt	9	7	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:103908701T>A	ENST00000302259.3	+	1	1394	c.1151T>A	c.(1150-1152)aTt>aAt	p.I384N	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	384							aspartic-type endopeptidase activity (GO:0004190)	p.I384S(1)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GACAAGGAAATTACACATTCA	0.458																																						ENST00000302259.3																			1	Substitution - Missense(1)	p.I384S(1)	large_intestine(1)	central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1150-1152)aTt>aAt		DNA-damage inducible 1 homolog 1 (S. cerevisiae)							55	55	55					11																	103908701		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908701T>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.1151T>A	11.37:g.103908701T>A	ENSP00000302805:p.Ile384Asn		Somatic				PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	p.I384N	NM_001001711.2	NP_001001711.1	WXS	Illumina GAIIx	Phase_I	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1394	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	384					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.1151T>A	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336403	0.41398	.	.	ENSG00000170967	ENST00000302259	T	0.25749	1.78	4.75	-9.5	0.00584	.	0.719656	0.12617	N	0.453347	T	0.18467	0.0443	M	0.70595	2.14	0.09310	N	1	P	0.41597	0.756	B	0.39562	0.303	T	0.00182	-1.1946	10	0.27785	T	0.31	-11.4314	5.7035	0.17895	0.098:0.4464:0.3171:0.1385	.	384	Q8WTU0	DDI1_HUMAN	N	384	ENSP00000302805:I384N	ENSP00000302805:I384N	I	+	2	0	DDI1	103413911	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.402000	0.07223	-2.272000	0.00682	-0.290000	0.09829	ATT		0.458	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		16	17	0	0	0	1	0	16	17					A	103908701	T	A	103908701	3	1	48	1	0	0	0	0	1	0	0	0	4330	1493	52	4	1153	4	DDI1	11	103908701	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	261	103908701	31097815	2812	7280										
KBTBD3	143879	broad.mit.edu	37	chr11	105924041	105924041	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatctctacctctgatccaaGaacataaattacattttggc	4	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:105924041G>T	ENST00000526793.1	-	3	1534	c.1375C>A	c.(1375-1377)Ctt>Att	p.L459I	KBTBD3_ENST00000531837.1_Missense_Mutation_p.L459I|KBTBD3_ENST00000534815.1_Missense_Mutation_p.L380I	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	455										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)		TCTGATCCAAGAACATAAATT	0.373																																						ENST00000526793.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25						c.(1375-1377)Ctt>Att		kelch repeat and BTB (POZ) domain containing 3							54	52	53					11																	105924041		2201	4298	6499	SO:0001583	missense	143879							g.chr11:105924041G>T	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"BTB/POZ domain containing"	22934	protein-coding gene	gene with protein product			"BTB and kelch domain containing 3"	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1375C>A	11.37:g.105924041G>T	ENSP00000436262:p.Leu459Ile		Somatic				KBTBD3_ENST00000534815.1_Missense_Mutation_p.L380I|KBTBD3_ENST00000531837.1_Missense_Mutation_p.L459I	p.L459I	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)	3	1534	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	455					Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.1375C>A	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971152	0.34754	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.65364	-0.15;-0.15;-0.15	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.58595	0.2133	L	0.29908	0.895	0.51482	D	0.999922	P;P	0.50156	0.932;0.911	P;B	0.47346	0.544;0.432	T	0.50659	-0.8802	10	0.17369	T	0.5	.	20.4135	0.99023	0.0:0.0:1.0:0.0	.	459;455	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	I	380;459;459	ENSP00000431910:L380I;ENSP00000436262:L459I;ENSP00000432163:L459I	ENSP00000436262:L459I	L	-	1	0	KBTBD3	105429251	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.350000	0.73017	2.835000	0.97688	0.591000	0.81541	CTT		0.373	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		8	23	1	0	0.000157383	1	0.000169016	8	23					T	105924041	G	T	105924041	3	4	48	1	0	0	0	0	1	0	0	0	8003	942	33	2	467	2	KBTBD3	11	105924041	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2015340	105924041	29082475	2813	7281										
ATM	472	broad.mit.edu	37	chr11	108165729	108165729	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgaaggactaaaggatcttCgaagacaactggaactacat	9	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:108165729C>T	ENST00000452508.2	+	33	5041	c.4852C>T	c.(4852-4854)Cga>Tga	p.R1618*	ATM_ENST00000278616.4_Nonsense_Mutation_p.R1618*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1618					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.E1612_Q1620>*(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)	AAAGGATCTTCGAAGACAACT	0.358			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		1	Complex - deletion inframe(1)	p.E1612_Q1620>*(1)	haematopoietic_and_lymphoid_tissue(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448	GRCh37	CM983653	ATM	M		c.(4852-4854)Cga>Tga	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							154	155	154					11																	108165729		2201	4298	6499	SO:0001587	stop_gained	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.chr11:108165729C>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.4852C>T	11.37:g.108165729C>T	ENSP00000388058:p.Arg1618*	TSP Lung(14;0.12)	Somatic				ATM_ENST00000452508.2_Nonsense_Mutation_p.R1618*	p.R1618*	NM_000051.3	NP_000042.3	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)	32	5237	+		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)	1618					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	c.4852C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	45	11.844775	0.99609	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	5.55	4.64	0.57946	.	0.417641	0.25264	N	0.031927	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.263	0.37623	0.1443:0.7829:0.0:0.0729	.	.	.	.	X	1618	.	ENSP00000278616:R1618X	R	+	1	2	ATM	107670939	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	2.086000	0.41643	1.337000	0.45525	0.650000	0.86243	CGA		0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		24	45	0	0	0	1	0	24	45					T	108165729	C	T	108165729	4	4	48	1	0	0	0	0	0	1	0	0	1109	876	31	1	4974	1	ATM	11	108165729	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2241688	108165729	26840787	2814	7282										
ATM	472	broad.mit.edu	37	chr11	108235812	108235812	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgttctctctgtttaggtcCttctatatgatccactcttt	5	10	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:108235812C>A	ENST00000452508.2	+	63	9043	c.8854C>A	c.(8854-8856)Ctt>Att	p.L2952I	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L2952I|ATM_ENST00000525178.1_3'UTR			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2952	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L2952F(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGTTTAGGTCCTTCTATATGA	0.368			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		2	Substitution - Missense(2)	p.L2952F(2)	prostate(2)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8854-8856)Ctt>Att	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>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.8854C>A	11.37:g.108235812C>A	ENSP00000388058:p.Leu2952Ile	TSP Lung(14;0.12)	Somatic				C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.L2952I|ATM_ENST00000525178.1_3'UTR	p.L2952I	NM_000051.3	NP_000042.3	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>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917674	0.73098	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.81996	-1.56;-1.56	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	D	0.89417	0.6709	M	0.66560	2.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89894	0.4039	10	0.72032	D	0.01	.	12.7706	0.57419	0.0:0.9252:0.0:0.0748	.	2952	Q13315	ATM_HUMAN	I	2952	ENSP00000278616:L2952I;ENSP00000388058:L2952I	ENSP00000278616:L2952I	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		13	22	1	0	0.000151284	1	0.00016287	13	22					A	108235812	C	A	108235812	3	1	48	1	0	0	0	0	1	0	0	0	1109	681	24	5	9096	5	ATM	11	108235812	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	70083	108235812	26770704	2815	7283										
EXPH5	23086	broad.mit.edu	37	chr11	108380999	108380999	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcctcctctgattgtcagaGaattctgcttccctgaggct	9	12	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:108380999G>T	ENST00000265843.4	-	6	5345	c.5235C>A	c.(5233-5235)ttC>ttA	p.F1745L	EXPH5_ENST00000443411.1_Missense_Mutation_p.F1557L|EXPH5_ENST00000525344.1_Missense_Mutation_p.F1738L|EXPH5_ENST00000428840.1_Missense_Mutation_p.F1669L	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1745					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GATTGTCAGAGAATTCTGCTT	0.488																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(5233-5235)ttC>ttA		exophilin 5							79	85	83					11																	108380999		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108380999G>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5235C>A	11.37:g.108380999G>T	ENSP00000265843:p.Phe1745Leu		Somatic				EXPH5_ENST00000428840.1_Missense_Mutation_p.F1669L|EXPH5_ENST00000443411.1_Missense_Mutation_p.F1557L|EXPH5_ENST00000525344.1_Missense_Mutation_p.F1738L	p.F1745L	NM_015065.2	NP_055880.2	WXS	Illumina GAIIx	Phase_I	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	5345	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1745					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.5235C>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	4.405	0.074753	0.08485	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312	T;T;T;T;T	0.02656	4.44;4.36;4.21;4.44;4.29	5.8	4.76	0.60689	.	0.826150	0.11103	N	0.599424	T	0.03053	0.0090	L	0.43152	1.355	0.09310	N	1	B	0.20052	0.041	B	0.20955	0.032	T	0.49303	-0.8954	10	0.11182	T	0.66	0.4056	5.9439	0.19207	0.1178:0.0:0.6939:0.1883	.	1745	Q8NEV8	EXPH5_HUMAN	L	1745;1669;1557;1738;575;1669	ENSP00000265843:F1745L;ENSP00000391966:F1669L;ENSP00000411390:F1557L;ENSP00000432546:F1738L;ENSP00000432683:F1669L	ENSP00000265843:F1745L	F	-	3	2	EXPH5	107886209	0.140000	0.22579	0.063000	0.19743	0.199000	0.23934	0.811000	0.27198	1.203000	0.43233	0.655000	0.94253	TTC		0.488	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		38	78	1	0	1.06647e-15	1	1.40869e-15	38	78					T	108380999	G	T	108380999	3	4	48	1	0	0	0	0	1	0	0	0	5324	933	33	2	738	2	EXPH5	11	108380999	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	145187	108380999	26625517	2816	7284										
RDX	5962	broad.mit.edu	37	chr11	110134819	110134819	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggcaatatatctcatcattTaagatggcttctttaacttg	7	7	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:110134819T>C	ENST00000343115.4	-	5	652	c.333A>G	c.(331-333)ttA>ttG	p.L111L	RDX_ENST00000530301.1_Silent_p.L79L|RDX_ENST00000528900.1_Intron|RDX_ENST00000405097.1_Silent_p.L111L|RDX_ENST00000544551.1_Intron|RDX_ENST00000528498.1_Silent_p.L111L	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	111	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TCTCATCATTTAAGATGGCTT	0.373																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(331-333)ttA>ttG		radixin							73	73	73					11																	110134819		2201	4298	6499	SO:0001819	synonymous_variant	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110134819T>C	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"deafness, autosomal recessive 24"	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.333A>G	11.37:g.110134819T>C			Somatic				RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Silent_p.L79L|RDX_ENST00000405097.1_Silent_p.L111L|RDX_ENST00000528498.1_Silent_p.L111L|RDX_ENST00000544551.1_Intron	p.L111L	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	WXS	Illumina GAIIx	Phase_I	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	5	652	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	111			FERM.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Silent	SNP	ENST00000343115.4	37	c.333A>G	CCDS8343.1																																																																																				0.373	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		22	25	0	0	0	1	0	22	25					C	110134819	T	C	110134819	2	2	48	1	0	0	0	0	0	0	0	1	13213	1751	61	4		4	RDX	11	110134819	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1753820	110134819	24871697	2817	7285										
SIK2	23235	broad.mit.edu	37	chr11	111583042	111583042	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaggccttttcatttccagcAtctggctgtcaggcggaagc	12	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:111583042A>G	ENST00000304987.3	+	9	1382	c.1209A>G	c.(1207-1209)gcA>gcG	p.A403A		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	403					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						CATTTCCAGCATCTGGCTGTC	0.557																																						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.(1207-1209)gcA>gcG		salt-inducible kinase 2							84	76	79					11																	111583042		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.chr11:111583042A>G	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.1209A>G	11.37:g.111583042A>G			Somatic					p.A403A	NM_015191.1	NP_056006.1	WXS	Illumina GAIIx	Phase_I	Q9H0K1	SIK2_HUMAN			9	1382	+			403					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	ENST00000304987.3	37	c.1209A>G	CCDS8347.1																																																																																				0.557	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		20	35	0	0	0	1	0	20	35					G	111583042	A	G	111583042	2	3	48	1	0	0	0	0	0	0	0	1	14333	204	8	4		4	SIK2	11	111583042	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1448223	111583042	23423474	2818	7286										
CRYAB	1410	broad.mit.edu	37	chr11	111779674	111779674	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcctgtggaactccctggaGatgaaaccatgttcatccta	8	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:111779674G>T	ENST00000533475.1	-	4	791	c.342C>A	c.(340-342)atC>atA	p.I114I	CRYAB_ENST00000526180.1_Silent_p.I114I|CRYAB_ENST00000525823.1_Silent_p.I47I|CRYAB_ENST00000531198.1_Silent_p.I114I|CRYAB_ENST00000527950.1_Silent_p.I114I|CRYAB_ENST00000533280.1_Silent_p.I47I|CRYAB_ENST00000227251.3_Silent_p.I114I	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	114					aging (GO:0007568)|apoptotic process involved in morphogenesis (GO:0060561)|cellular response to gamma radiation (GO:0071480)|glucose metabolic process (GO:0006006)|lens development in camera-type eye (GO:0002088)|microtubule polymerization or depolymerization (GO:0031109)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of gene expression (GO:0010629)|negative regulation of intracellular transport (GO:0032387)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)|regulation of cell death (GO:0010941)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|stress-activated MAPK cascade (GO:0051403)|tubulin complex assembly (GO:0007021)	actin filament bundle (GO:0032432)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|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;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		ACTCCCTGGAGATGAAACCAT	0.473																																						ENST00000533475.1																			0				endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8						c.(340-342)atC>atA		crystallin, alpha B							82	75	77					11																	111779674		2201	4297	6498	SO:0001819	synonymous_variant	1410				anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding	g.chr11:111779674G>T		CCDS8351.1	11q22.3-q23.1	2014-09-17				ENSG00000109846		"Heat shock proteins / HSPB"	2389	protein-coding gene	gene with protein product		123590		CRYA2		8431633	Standard	NM_001885		Approved	HSPB5	uc001pmf.1	P02511		ENST00000533475.1:c.342C>A	11.37:g.111779674G>T			Somatic				CRYAB_ENST00000531198.1_Silent_p.I114I|CRYAB_ENST00000526180.1_Silent_p.I114I|CRYAB_ENST00000525823.1_Silent_p.I47I|CRYAB_ENST00000533280.1_Silent_p.I47I|CRYAB_ENST00000527950.1_Silent_p.I114I|CRYAB_ENST00000227251.3_Silent_p.I114I	p.I114I	NM_001885.1	NP_001876.1	WXS	Illumina GAIIx	Phase_I	P02511	CRYAB_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)	4	791	-		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|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)	114					B0YIX0|O43416|Q9UC37|Q9UC38|Q9UC39|Q9UC40|Q9UC41	Silent	SNP	ENST00000533475.1	37	c.342C>A	CCDS8351.1	.	.	.	.	.	.	.	.	.	.	G	8.473	0.858106	0.17178	.	.	ENSG00000109846	ENST00000524660	.	.	.	5.73	3.64	0.41730	.	.	.	.	.	T	0.58380	0.2118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52373	-0.8584	4	.	.	.	-15.7033	8.6943	0.34287	0.3302:0.0:0.6698:0.0	.	.	.	.	I	45	.	.	L	-	1	0	CRYAB	111284884	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.197000	0.17197	0.596000	0.29794	0.655000	0.94253	CTC		0.473	CRYAB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391658.1			11	34	1	0	0.0692343	1	0.0701576	11	34					T	111779674	G	T	111779674	2	4	48	1	0	0	0	0	0	0	0	1	3908	932	33	2		2	CRYAB	11	111779674	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	196632	111779674	23226842	2819	7287										
NCAM1	4684	broad.mit.edu	37	chr11	113102483	113102483	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accgccagcaacaccatcggCcaggactcccagtccatgta	8	17	0	0	rs375015033		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113102483C>A	ENST00000533760.1	+	9	1421	c.822C>A	c.(820-822)ggC>ggA	p.G274G	NCAM1_ENST00000316851.7_Silent_p.G392G|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.G401G	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	402	Ig-like C2-type 3.				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)			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)		ACACCATCGGCCAGGACTCCC	0.577																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1174-1176)ggC>ggA		neural cell adhesion molecule 1							93	97	96					11																	113102483		2149	4258	6407	SO:0001819	synonymous_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113102483C>A		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.822C>A	11.37:g.113102483C>A			Somatic				NCAM1_ENST00000533760.1_Silent_p.G274G|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.G401G	p.G392G	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)	9	1176	+		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)	402			Ig-like C2-type 4.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000533760.1	37	c.1176C>A																																																																																					0.577	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		11	109	1	0	1.08611e-07	1	1.25818e-07	11	109					A	113102483	C	A	113102483	2	1	48	1	0	0	0	0	0	0	0	1	10211	726	26	5		5	NCAM1	11	113102483	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1322809	113102483	21904033	2820	7288										
NCAM1	4684	broad.mit.edu	37	chr11	113102991	113102991	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctatcccagtgccacgatctCatggtttcgggatggccagc	11	13	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113102991C>A	ENST00000533760.1	+	10	1555	c.956C>A	c.(955-957)tCa>tAa	p.S319*	NCAM1_ENST00000316851.7_Nonsense_Mutation_p.S437*|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Nonsense_Mutation_p.S446*	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	447	Ig-like C2-type 4.				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)			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)		GCCACGATCTCATGGTTTCGG	0.552																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1309-1311)tCa>tAa		neural cell adhesion molecule 1							74	74	74					11																	113102991		2022	4199	6221	SO:0001587	stop_gained	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113102991C>A		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.956C>A	11.37:g.113102991C>A	ENSP00000473281:p.Ser319*		Somatic				NCAM1_ENST00000533760.1_Nonsense_Mutation_p.S319*|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Nonsense_Mutation_p.S446*	p.S437*	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)	10	1310	+		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)	447			Ig-like C2-type 5.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Nonsense_Mutation	SNP	ENST00000533760.1	37	c.1310C>A		.	.	.	.	.	.	.	.	.	.	C	37	6.603661	0.97697	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	.	.	.	5.73	5.73	0.89815	.	0.231428	0.31859	U	0.006957	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.9785	20.2786	0.98501	0.0:1.0:0.0:0.0	.	.	.	.	X	319;446;437	.	ENSP00000318472:S437X	S	+	2	0	NCAM1	112608201	0.999000	0.42202	1.000000	0.80357	0.912000	0.54170	3.825000	0.55730	2.868000	0.98415	0.557000	0.71058	TCA		0.552	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		15	42	1	0	0.000308642	1	0.000328443	15	42					A	113102991	C	A	113102991	4	1	48	1	0	0	0	0	0	1	0	0	10211	838	29	2	1383	2	NCAM1	11	113102991	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	508	113102991	21903525	2821	7289										
ANKK1	255239	broad.mit.edu	37	chr11	113270689	113270689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggacacccctccacctggcGgtccagaggagcaccttcct	10	17	0	1	rs189187004		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113270689G>A	ENST00000303941.3	+	8	2092	c.1998G>A	c.(1996-1998)gcG>gcA	p.A666A		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	666							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)		TCCACCTGGCGGTCCAGAGGA	0.647													G|||	1	0.000199681	0	0	5008	,	,		20884	0		0.001	False		,,,				2504	0					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.(1996-1998)gcG>gcA		ankyrin repeat and kinase domain containing 1		G		0,4152		0,0,2076	61	70	67		1998	-9.1	0	11		67	1,8391		0,1,4195	no	coding-synonymous	ANKK1	NM_178510.1		0,1,6271	AA,AG,GG		0.0119,0.0,0.0080		666/766	113270689	1,12543	2076	4196	6272	SO:0001819	synonymous_variant	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113270689G>A	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1998G>A	11.37:g.113270689G>A			Somatic					p.A666A	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)	8	2092	+		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)	666						Silent	SNP	ENST00000303941.3	37	c.1998G>A	CCDS44734.1																																																																																				0.647	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		26	47	0	0	0	1	0	26	47					A	113270689	G	A	113270689	2	1	48	1	0	0	0	0	0	0	0	1	631	1103	39	1		1	ANKK1	11	113270689	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	167698	113270689	21735827	2822	7290										
DRD2	1813	broad.mit.edu	37	chr11	113285165	113285165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgcagagtttcatgtcctCggggtgagtacagttgccct	14	9	1	2	rs201628227		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113285165C>T	ENST00000362072.3	-	6	1086	c.742G>A	c.(742-744)Gag>Aag	p.E248K	DRD2_ENST00000538967.1_Missense_Mutation_p.E248K|DRD2_ENST00000544518.1_Missense_Mutation_p.E247K|DRD2_ENST00000355319.2_Missense_Mutation_p.E248K|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Intron|DRD2_ENST00000542968.1_Missense_Mutation_p.E248K|DRD2_ENST00000535984.1_5'UTR	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	248	Interaction with PPP1R9B. {ECO:0000250}.				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)			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)	TTCATGTCCTCGGGGTGAGTA	0.567																																						ENST00000362072.3																			0				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.(742-744)Gag>Aag		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)						159	149	152					11																	113285165		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.chr11:113285165C>T	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.742G>A	11.37:g.113285165C>T	ENSP00000354859:p.Glu248Lys		Somatic				DRD2_ENST00000542968.1_Missense_Mutation_p.E248K|DRD2_ENST00000538967.1_Missense_Mutation_p.E248K|DRD2_ENST00000355319.2_Missense_Mutation_p.E248K|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000346454.3_Intron|DRD2_ENST00000544518.1_Missense_Mutation_p.E247K	p.E248K	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)	6	1086	-		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)	248			Interaction with PPP1R9B (By similarity).		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.742G>A	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694622	0.68386	.	.	ENSG00000149295	ENST00000355319;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T	0.73152	-0.71;-0.69;-0.72;-0.69;-0.71	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.093450	0.64402	D	0.000001	T	0.66819	0.2828	L	0.60845	1.875	0.80722	D	1	B;B;B	0.32283	0.362;0.362;0.075	B;B;B	0.24155	0.051;0.051;0.042	T	0.65639	-0.6119	10	0.33141	T	0.24	.	18.904	0.92453	0.0:1.0:0.0:0.0	.	247;248;248	F8VUV1;P14416-3;P14416	.;.;DRD2_HUMAN	K	248;248;247;248;248	ENSP00000347474:E248K;ENSP00000354859:E248K;ENSP00000441068:E247K;ENSP00000442172:E248K;ENSP00000438215:E248K	ENSP00000347474:E248K	E	-	1	0	DRD2	112790375	1.000000	0.71417	0.968000	0.41197	0.993000	0.82548	7.625000	0.83145	2.451000	0.82905	0.462000	0.41574	GAG		0.567	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		58	103	0	0	0	1	0	58	103					T	113285165	C	T	113285165	3	4	48	1	0	0	0	0	1	0	0	0	4759	893	31	1	601	1	DRD2	11	113285165	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	14476	113285165	21721351	2823	7291										
ZW10	9183	broad.mit.edu	37	chr11	113614583	113614583	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taggcgagttccattaatttCttcacagactcactgatacg	7	10	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113614583C>A	ENST00000200135.3	-	10	1596	c.1452G>T	c.(1450-1452)aaG>aaT	p.K484N		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	484					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)		CCATTAATTTCTTCACAGACT	0.418																																						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.(1450-1452)aaG>aaT		zw10 kinetochore protein							171	159	163					11																	113614583		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.chr11:113614583C>A	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.1452G>T	11.37:g.113614583C>A	ENSP00000200135:p.Lys484Asn		Somatic					p.K484N	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)	10	1596	-		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)	484					A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.1452G>T	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192177	0.38707	.	.	ENSG00000086827	ENST00000200135	T	0.46451	0.87	5.57	4.65	0.58169	.	0.221660	0.46758	D	0.000263	T	0.34861	0.0912	L	0.43152	1.355	0.42632	D	0.993382	B	0.09022	0.002	B	0.19946	0.027	T	0.12091	-1.0561	10	0.17832	T	0.49	-9.5216	13.0401	0.58895	0.0:0.9215:0.0:0.0785	.	484	O43264	ZW10_HUMAN	N	484	ENSP00000200135:K484N	ENSP00000200135:K484N	K	-	3	2	ZW10	113119793	1.000000	0.71417	0.998000	0.56505	0.699000	0.40488	1.880000	0.39628	1.335000	0.45486	0.460000	0.39030	AAG		0.418	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		30	63	1	0	6.00712e-18	1	8.10414e-18	30	63					A	113614583	C	A	113614583	3	1	48	1	0	0	0	0	1	0	0	0	18262	912	32	2	915	2	ZW10	11	113614583	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	329418	113614583	21391933	2824	7292										
USP28	57646	broad.mit.edu	37	chr11	113723356	113723356	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtaatgtcaccattactggcCtatgggagaaaaagacaata	9	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113723356C>A	ENST00000003302.4	-	3	204		c.e3-1		USP28_ENST00000542033.1_Splice_Site|USP28_ENST00000537706.1_Splice_Site|USP28_ENST00000260188.5_Splice_Site|USP28_ENST00000545540.1_Intron	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28						cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CATTACTGGCCTATGGGAGAA	0.388																																					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.e3-1		ubiquitin specific peptidase 28							71	62	65					11																	113723356		2201	4296	6497	SO:0001630	splice_region_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113723356C>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.136-1G>T	11.37:g.113723356C>A			Somatic				USP28_ENST00000260188.5_Splice_Site|USP28_ENST00000545540.1_Intron|USP28_ENST00000542033.1_Splice_Site|USP28_ENST00000537706.1_Splice_Site		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)	3	204	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)						B0YJC0|B0YJC1|Q9P213	Splice_Site	SNP	ENST00000003302.4	37		CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367149	0.61513	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000537706;ENST00000540925;ENST00000544750	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7897	0.78345	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP28	113228566	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	4.071000	0.57556	2.794000	0.96219	0.655000	0.94253	.		0.388	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		Intron	7	42	1	0	0.00198382	1	0.00207034	7	42					A	113723356	C	A	113723356	5	1	48	1	0	0	0	0	0	0	1	0	17073	695	24	5	3190	5	USP28	11	113723356	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	108773	113723356	21283160	2825	7293										
HTR3B	9177	broad.mit.edu	37	chr11	113803116	113803116	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtctctgcgtgcagtttagaGacatatgcttttccatttga	9	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113803116G>T	ENST00000260191.2	+	5	731	c.474G>T	c.(472-474)gaG>gaT	p.E158D	HTR3B_ENST00000537778.1_Missense_Mutation_p.E147D	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	158					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)	GCAGTTTAGAGACATATGCTT	0.438																																						ENST00000260191.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20						c.(472-474)gaG>gaT		5-hydroxytryptamine (serotonin) receptor 3B, ionotropic							173	148	156					11																	113803116		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.chr11:113803116G>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.474G>T	11.37:g.113803116G>T	ENSP00000260191:p.Glu158Asp		Somatic				HTR3B_ENST00000537778.1_Missense_Mutation_p.E147D	p.E158D	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)	5	731	+		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)	158					B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	c.474G>T	CCDS8364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.255|6.255	0.415210|0.415210	0.11870|0.11870	.|.	.|.	ENSG00000149305|ENSG00000149305	ENST00000260191;ENST00000537778|ENST00000543092	T;T|.	0.73681|.	-0.77;-0.77|.	5.82|5.82	4.91|4.91	0.64330|0.64330	Neurotransmitter-gated ion-channel ligand-binding (3);|.	0.115241|.	0.64402|.	D|.	0.000020|.	T|T	0.20901|0.20901	0.0503|0.0503	N|N	0.02391|0.02391	-0.57|-0.57	0.41389|0.41389	D|D	0.987601|0.987601	B;D|.	0.56746|.	0.028;0.977|.	B;P|.	0.55011|.	0.03;0.766|.	T|T	0.09952|0.09952	-1.0651|-1.0651	10|5	0.02654|.	T|.	1|.	-13.7381|-13.7381	6.6186|6.6186	0.22790|0.22790	0.1559:0.148:0.6961:0.0|0.1559:0.148:0.6961:0.0	.|.	147;158|.	O95264-2;O95264|.	.;5HT3B_HUMAN|.	D|I	158;147|87	ENSP00000260191:E158D;ENSP00000443118:E147D|.	ENSP00000260191:E158D|.	E|R	+|+	3|2	2|0	HTR3B|HTR3B	113308326|113308326	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.966000|0.966000	0.64601|0.64601	1.567000|1.567000	0.36407|0.36407	1.468000|1.468000	0.48064|0.48064	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.438	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		28	34	1	0	3.73988e-18	1	5.05028e-18	28	34					T	113803116	G	T	113803116	3	4	48	1	0	0	0	0	1	0	0	0	7454	933	33	2	492	2	HTR3B	11	113803116	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	79760	113803116	21203400	2826	7294										
FAM55A	120400	broad.mit.edu	37	chr11	114393211	114393211	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gattccagtttcatgaagatCaaaaaacttcagtgctgata	7	7	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:114393211C>A	ENST00000424269.1	-	5	1122	c.1123G>T	c.(1123-1125)Gat>Tat	p.D375Y	NXPE1_ENST00000251921.2_Missense_Mutation_p.D233Y|NXPE1_ENST00000536271.1_Missense_Mutation_p.D91Y			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	375						extracellular region (GO:0005576)											TCATGAAGATCAAAAAACTTC	0.303																																						ENST00000536271.1																			0											c.(271-273)Gat>Tat		neurexophilin and PC-esterase domain family, member 1							54	57	56					11																	114393211		2201	4294	6495	SO:0001583	missense	120400							g.chr11:114393211C>A	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"family with sequence similarity 55, member A"	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1123G>T	11.37:g.114393211C>A	ENSP00000411690:p.Asp375Tyr		Somatic				NXPE1_ENST00000251921.2_Missense_Mutation_p.D233Y|NXPE1_ENST00000424269.1_Missense_Mutation_p.D375Y	p.D91Y			WXS	Illumina GAIIx	Phase_I					4	1514	-								B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.271G>T		.	.	.	.	.	.	.	.	.	.	C	14.89	2.671401	0.47781	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.17854	2.25;2.25;2.25	4.19	3.27	0.37495	.	0.247697	0.33938	N	0.004401	T	0.40498	0.1119	M	0.88906	2.99	0.27999	N	0.935366	D	0.89917	1.0	D	0.79108	0.992	T	0.20940	-1.0260	10	0.28530	T	0.3	.	7.4166	0.27048	0.0:0.8:0.0:0.2	.	375	Q8N323	FA55A_HUMAN	Y	91;233;375	ENSP00000445200:D91Y;ENSP00000251921:D233Y;ENSP00000411690:D375Y	ENSP00000251921:D233Y	D	-	1	0	FAM55A	113898421	0.932000	0.31603	0.993000	0.49108	0.872000	0.50106	0.203000	0.17315	2.275000	0.75901	0.650000	0.86243	GAT		0.303	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		7	16	1	0	8.12818e-05	1	8.79784e-05	7	16					A	114393211	C	A	114393211	3	1	48	1	0	0	0	0	1	0	0	0	5592	826	29	2	524	2	FAM55A	11	114393211	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	590095	114393211	20613305	2827	7295										
ZNF259	8882	broad.mit.edu	37	chr11	116649650	116649650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccacccactgctaccgttgCggagccaggcctgcctcata	10	17	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:116649650C>T	ENST00000227322.3	-	14	1430	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		457					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		GCTACCGTTGCGGAGCCAGGC	0.532																																						ENST00000227322.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1369-1371)ccG>ccA		zinc finger protein 259							111	85	94					11																	116649650		2201	4296	6497	SO:0001819	synonymous_variant	8882				cell proliferation|signal transduction	cytoplasm|nucleolus		g.chr11:116649650C>T																												ENST00000227322.3:c.1371G>A	11.37:g.116649650C>T			Somatic					p.P457P	NM_003904.3	NP_003895.1	WXS	Illumina GAIIx	Phase_I	O75312	ZPR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)	14	1430	-	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)	457					Q2TAA0	Silent	SNP	ENST00000227322.3	37	c.1371G>A	CCDS8375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.920|1.920	-0.448668|-0.448668	0.04572|0.04572	.|.	.|.	ENSG00000109917|ENSG00000109917	ENST00000429220|ENST00000444935	.|.	.|.	.|.	5.53|5.53	-6.69|-6.69	0.01772|0.01772	.|.	.|.	.|.	.|.	.|.	T|T	0.30008|0.30008	0.0751|0.0751	.|.	.|.	.|.	0.31696|0.31696	N|N	0.641216|0.641216	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42498|0.42498	-0.9448|-0.9448	4|4	.|.	.|.	.|.	-0.0298|-0.0298	5.3325|5.3325	0.15940|0.15940	0.0946:0.4279:0.2987:0.1788|0.0946:0.4279:0.2987:0.1788	.|.	.|.	.|.	.|.	T|H	384|428	.|.	.|.	A|R	-|-	1|2	0|0	ZNF259|ZNF259	116154860|116154860	0.475000|0.475000	0.25894|0.25894	0.202000|0.202000	0.23494|0.23494	0.331000|0.331000	0.28603|0.28603	-0.667000|-0.667000	0.05274|0.05274	-0.709000|-0.709000	0.05008|0.05008	-0.295000|-0.295000	0.09555|0.09555	GCA|CGC		0.532	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2			17	26	0	0	0	1	0	17	26					T	116649650	C	T	116649650	2	4	48	1	0	0	0	0	0	0	0	1	17816	755	27	1		1	ZNF259	11	116649650	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2256439	116649650	18356866	2828	7296										
TMPRSS13	84000	broad.mit.edu	37	chr11	117785214	117785214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtacctgatccctgtgtggCcctgccagaactggactaga	11	12	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:117785214C>T	ENST00000430170.2	-	4	659	c.572G>A	c.(571-573)gGc>gAc	p.G191D	TMPRSS13_ENST00000528626.1_Missense_Mutation_p.G156D|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G191D|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.G191D|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G191D	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	191						blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CCCTGTGTGGCCCTGCCAGAA	0.587																																						ENST00000528626.1																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20						c.(466-468)gGc>gAc		transmembrane protease, serine 13							187	199	195					11																	117785214		2107	4232	6339	SO:0001583	missense	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117785214C>T	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.572G>A	11.37:g.117785214C>T	ENSP00000387702:p.Gly191Asp		Somatic				TMPRSS13_ENST00000430170.2_Missense_Mutation_p.G191D|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G191D|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.G191D|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G191D	p.G156D	NM_001206789.1	NP_001193718.1	WXS	Illumina GAIIx	Phase_I	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	3	540	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	186					B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	c.467G>A	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152386	0.38021	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	D;D;D;D;D	0.88509	-2.39;-2.3;-2.3;-2.31;-2.21	5.85	4.95	0.65309	.	0.214865	0.32802	N	0.005634	D	0.91590	0.7343	L	0.60455	1.87	0.43003	D	0.994528	D;D	0.89917	1.0;0.996	D;P	0.74348	0.983;0.899	D	0.89045	0.3451	10	0.14252	T	0.57	.	12.461	0.55731	0.0:0.9218:0.0:0.0782	.	186;191	Q9BYE2-4;E9PRA0	.;.	D	156;186;191;191;191;191	ENSP00000435813:G156D;ENSP00000434279:G191D;ENSP00000387702:G191D;ENSP00000394114:G191D;ENSP00000436502:G191D	ENSP00000337113:G186D	G	-	2	0	TMPRSS13	117290424	0.855000	0.29742	0.999000	0.59377	0.026000	0.11368	1.717000	0.37991	1.499000	0.48617	-0.215000	0.12644	GGC		0.587	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		112	206	0	0	0	1	0	112	206					T	117785214	C	T	117785214	3	4	48	1	0	0	0	0	1	0	0	0	16260	739	26	3	1171	3	TMPRSS13	11	117785214	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1135564	117785214	17221302	2829	7297										
AMICA1	120425	broad.mit.edu	37	chr11	118068800	118068800	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcaccaagactgtagaattCactgaactgcaagacatgaa	7	9	2	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:118068800C>A	ENST00000356289.5	-	8	1091	c.918G>T	c.(916-918)gtG>gtT	p.V306V	AMICA1_ENST00000533261.1_Silent_p.V295V|AMICA1_ENST00000526620.1_Silent_p.V267V|AMICA1_ENST00000292067.7_Silent_p.V296V	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	306					blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	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;3.4e-05)		CTGTAGAATTCACTGAACTGC	0.443											OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000292067.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20						c.(886-888)gtG>gtT		adhesion molecule, interacts with CXADR antigen 1							153	139	144					11																	118068800		2200	4296	6496	SO:0001819	synonymous_variant	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118068800C>A	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"Immunoglobulin superfamily / V-set domain containing"	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.918G>T	11.37:g.118068800C>A			Somatic	OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1485	AMICA1_ENST00000526620.1_Silent_p.V267V|AMICA1_ENST00000533261.1_Silent_p.V295V|AMICA1_ENST00000356289.5_Silent_p.V306V	p.V296V	NM_153206.2	NP_694938.2	WXS	Illumina GAIIx	Phase_I	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1329	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	306					B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Silent	SNP	ENST00000356289.5	37	c.888G>T	CCDS41723.1																																																																																				0.443	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		29	55	1	0	7.26314e-15	1	9.49782e-15	29	55					A	118068800	C	A	118068800	2	1	48	1	0	0	0	0	0	0	0	1	574	813	29	2		2	AMICA1	11	118068800	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	283586	118068800	16937716	2830	7298										
MLL	4297	broad.mit.edu	37	chr11	118343387	118343387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacttcctgaggagcggagcGatacccctgaagttcatcct	10	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:118343387G>A	ENST00000389506.5	+	3	1513	c.1513G>A	c.(1513-1515)Gat>Aat	p.D505N	KMT2A_ENST00000354520.4_Missense_Mutation_p.D505N|KMT2A_ENST00000534358.1_Missense_Mutation_p.D505N			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	505					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)										GGAGCGGAGCGATACCCCTGA	0.493																																						ENST00000534358.1																			0											c.(1513-1515)Gat>Aat		lysine (K)-specific methyltransferase 2A							109	115	113					11																	118343387		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118343387G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1513G>A	11.37:g.118343387G>A	ENSP00000374157:p.Asp505Asn		Somatic				KMT2A_ENST00000354520.4_Missense_Mutation_p.D505N|KMT2A_ENST00000389506.5_Missense_Mutation_p.D505N	p.D505N	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2	WXS	Illumina GAIIx	Phase_I					3	1536	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.1513G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	6.410	0.443833	0.12164	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520	T;T;T;T	0.80653	-1.4;2.36;-1.4;-1.37	5.32	2.34	0.29019	.	0.639989	0.16560	N	0.209091	T	0.48447	0.1500	N	0.02539	-0.55	0.09310	N	0.999995	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.01281	0.0;0.0;0.0	T	0.44667	-0.9313	10	0.02654	T	1	.	5.0886	0.14696	0.3108:0.2661:0.4231:0.0	.	505;505;538	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	N	505;538;505;505	ENSP00000436786:D505N;ENSP00000432391:D538N;ENSP00000374157:D505N;ENSP00000346516:D505N	ENSP00000346516:D505N	D	+	1	0	MLL	117848597	0.906000	0.30813	0.743000	0.31040	0.990000	0.78478	1.976000	0.40579	0.716000	0.32124	0.491000	0.48974	GAT		0.493	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		8	154	0	0	0	1	0	8	154					A	118343387	G	A	118343387	3	1	48	1	0	0	0	0	1	0	0	0	9629	1058	37	1	1523	1	MLL	11	118343387	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	274587	118343387	16663129	2831	7299										
TMEM25	84866	broad.mit.edu	37	chr11	118404598	118404598	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccggcacccatctctgataTcaaggtaactcttccttggg	8	14	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:118404598T>G	ENST00000313236.5	+	6	885	c.832T>G	c.(832-834)Tca>Gca	p.S278A	TMEM25_ENST00000524725.1_Missense_Mutation_p.S234A|TMEM25_ENST00000442938.2_Missense_Mutation_p.S234A|TMEM25_ENST00000359862.4_Missense_Mutation_p.S234A|TMEM25_ENST00000411589.2_Missense_Mutation_p.S234A|TMEM25_ENST00000354064.7_Missense_Mutation_p.S130A|TMEM25_ENST00000533102.1_Missense_Mutation_p.S278A|TMEM25_ENST00000544878.1_Missense_Mutation_p.S181A|TMEM25_ENST00000354284.4_Missense_Mutation_p.S278A|RP11-770J1.3_ENST00000556583.1_RNA	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	278						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		ATCTCTGATATCAAGGTAACT	0.577																																						ENST00000524725.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13						c.(700-702)Tca>Gca		transmembrane protein 25							113	116	115					11																	118404598		2200	4295	6495	SO:0001583	missense	84866					extracellular region|integral to membrane|plasma membrane		g.chr11:118404598T>G	AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"Immunoglobulin superfamily / C2-set domain containing"	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.832T>G	11.37:g.118404598T>G	ENSP00000315635:p.Ser278Ala		Somatic				TMEM25_ENST00000354284.4_Missense_Mutation_p.S278A|TMEM25_ENST00000544878.1_Missense_Mutation_p.S181A|TMEM25_ENST00000359862.4_Missense_Mutation_p.S234A|TMEM25_ENST00000442938.2_Missense_Mutation_p.S234A|TMEM25_ENST00000533102.1_Missense_Mutation_p.S278A|TMEM25_ENST00000354064.7_Missense_Mutation_p.S130A|TMEM25_ENST00000411589.2_Missense_Mutation_p.S234A|TMEM25_ENST00000313236.5_Missense_Mutation_p.S278A	p.S234A			WXS	Illumina GAIIx	Phase_I	Q86YD3	TMM25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	4	1112	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)	278					A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Missense_Mutation	SNP	ENST00000313236.5	37	c.700T>G	CCDS8398.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	15.65|15.65|15.65	2.895777|2.895777|2.895777	0.52121|0.52121|0.52121	.|.|.	.|.|.	ENSG00000149582|ENSG00000149582|ENSG00000149582	ENST00000526853|ENST00000411589;ENST00000442938;ENST00000359862;ENST00000544878;ENST00000354284;ENST00000532762;ENST00000354064;ENST00000533102;ENST00000313236;ENST00000524725|ENST00000526973	T|T;T;T;T;T;T;T;T;T;T|.	0.43294|0.33654|.	0.95|2.06;1.96;2.06;1.47;2.19;1.49;1.4;2.16;2.2;2.06|.	5.89|5.89|5.89	5.89|5.89|5.89	0.94794|0.94794|0.94794	.|.|.	.|0.216169|.	.|0.42682|.	.|D|.	.|0.000667|.	T|T|.	0.49133|0.49133|.	0.1539|0.1539|.	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.46631|0.46631|0.46631	D|D|D	0.999132|0.999132|0.999132	.|P;B;P;D;P;P;B;D|.	.|0.56035|.	.|0.77;0.24;0.956;0.974;0.783;0.82;0.3;0.974|.	.|B;B;D;D;B;B;B;D|.	.|0.70487|.	.|0.28;0.141;0.931;0.969;0.356;0.254;0.197;0.969|.	T|T|.	0.46569|0.46569|.	-0.9182|-0.9182|.	7|10|.	0.87932|0.15499|.	D|T|.	0|0.54|.	-13.576|-13.576|-13.576	12.7041|12.7041|12.7041	0.57051|0.57051|0.57051	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|181;278;234;234;278;278;130;234|.	.|F5H294;Q86YD3;Q8NBL5;G5E9U4;Q86YD3-4;E9PKP3;Q86YD3-3;Q86YD3-2|.	.|.;TMM25_HUMAN;.;.;.;.;.;.|.	S|A|X	112|234;234;234;181;278;137;130;278;278;234|117	ENSP00000431145:I112S|ENSP00000411882:S234A;ENSP00000416071:S234A;ENSP00000352924:S234A;ENSP00000439408:S181A;ENSP00000346237:S278A;ENSP00000433906:S137A;ENSP00000278959:S130A;ENSP00000431548:S278A;ENSP00000315635:S278A;ENSP00000431205:S234A|.	ENSP00000431145:I112S|ENSP00000315635:S278A|.	I|S|Y	+|+|+	2|1|3	0|0|2	TMEM25|TMEM25|TMEM25	117909808|117909808|117909808	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.190000|0.190000|0.190000	0.23558|0.23558|0.23558	4.123000|4.123000|4.123000	0.57917|0.57917|0.57917	2.254000|2.254000|2.254000	0.74563|0.74563|0.74563	0.459000|0.459000|0.459000	0.35465|0.35465|0.35465	ATC|TCA|TAT		0.577	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389266.1	NM_032780		11	130	0	0	0	1	0	11	130					G	118404598	T	G	118404598	3	3	48	1	0	0	0	0	1	0	0	0	16165	1435	50	4	850	4	TMEM25	11	118404598	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	61211	118404598	16601918	2832	7300										
VPS11	55823	broad.mit.edu	37	chr11	118952233	118952233	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggcagaggtgttttcaacaAattgactctgctgaccgacc	10	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:118952233A>C	ENST00000300793.6	+	17	2765	c.2723A>C	c.(2722-2724)aAa>aCa	p.K908T	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	909					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)		GTTTTCAACAAATTGACTCTG	0.532																																						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.(2722-2724)aAa>aCa		vacuolar protein sorting 11 homolog (S. cerevisiae)							90	96	94					11																	118952233		2014	4173	6187	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118952233A>C	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.2723A>C	11.37:g.118952233A>C	ENSP00000475301:p.Lys908Thr		Somatic				VPS11_ENST00000527798.1_3'UTR	p.K908T	NM_021729.4	NP_068375.3	WXS	Illumina GAIIx	Phase_I	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	17	2765	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	909					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.2723A>C																																																																																					0.532	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		6	104	0	0	0	1	0	6	104					C	118952233	A	C	118952233	3	2	48	1	0	0	0	0	1	0	0	0	17203	14	1	4	2787	4	VPS11	11	118952233	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	547635	118952233	16054283	2833	7301										
POU2F3	25833	broad.mit.edu	37	chr11	120139927	120139927	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatcttttctaggaaatgatCgaaatggcctagatttcaac	7	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:120139927C>T	ENST00000543440.2	+	3	256	c.106C>T	c.(106-108)Cga>Tga	p.R36*	POU2F3_ENST00000260264.4_Nonsense_Mutation_p.R38*	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	36					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		AGGAAATGATCGAAATGGCCT	0.378																																						ENST00000260264.4																			0				large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.(112-114)Cga>Tga		POU class 2 homeobox 3							41	44	43					11																	120139927		2203	4300	6503	SO:0001587	stop_gained	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120139927C>T	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"Homeoboxes / POU class"	19864	protein-coding gene	gene with protein product		607394	"POU domain class 2, transcription factor 3"			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.106C>T	11.37:g.120139927C>T	ENSP00000441687:p.Arg36*		Somatic				POU2F3_ENST00000543440.2_Nonsense_Mutation_p.R36*	p.R38*	NM_001244682.1	NP_001231611.1	WXS	Illumina GAIIx	Phase_I	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	3	146	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	36					A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Nonsense_Mutation	SNP	ENST00000543440.2	37	c.112C>T	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	C	37	6.310069	0.97462	.	.	ENSG00000137709	ENST00000543440;ENST00000260264	.	.	.	4.99	4.09	0.47781	.	0.537675	0.18783	N	0.131293	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.457	0.38760	0.0:0.9048:0.0:0.0952	.	.	.	.	X	38;36	.	ENSP00000260264:R36X	R	+	1	2	POU2F3	119645137	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.518000	0.53451	1.338000	0.45544	0.655000	0.94253	CGA		0.378	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			5	22	0	0	0	1	0	5	22					T	120139927	C	T	120139927	4	4	48	1	0	0	0	0	0	1	0	0	12282	876	31	1	116	1	POU2F3	11	120139927	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1187694	120139927	14866589	2834	7302										
ARHGEF12	23365	broad.mit.edu	37	chr11	120278467	120278467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcatggaagtattttgaaccGagagtcaccaacagataaga	10	7	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:120278467G>A	ENST00000397843.2	+	3	243	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	ARHGEF12_ENST00000532993.1_5'UTR|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R26Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	26					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATTTTGAACCGAGAGTCACCA	0.328			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(76-78)cGa>cAa		Rho guanine nucleotide exchange factor (GEF) 12							145	134	137					11																	120278467		1903	4147	6050	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120278467G>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.77G>A	11.37:g.120278467G>A	ENSP00000380942:p.Arg26Gln		Somatic				ARHGEF12_ENST00000532993.1_5'UTR|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R26Q	p.R26Q	NM_015313.2	NP_056128.1	WXS	Illumina GAIIx	Phase_I	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	3	243	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	26					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.77G>A	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	35	5.520827	0.96416	.	.	ENSG00000196914	ENST00000397843;ENST00000356641	T;T	0.69306	-0.33;-0.39	5.65	5.65	0.86999	.	0.000000	0.38492	N	0.001677	T	0.71409	0.3336	N	0.24115	0.695	0.44937	D	0.99795	D;D	0.76494	0.998;0.999	P;P	0.62184	0.899;0.844	T	0.73300	-0.4026	10	0.52906	T	0.07	-8.9993	19.7179	0.96131	0.0:0.0:1.0:0.0	.	26;26	Q9NZN5-2;Q9NZN5	.;ARHGC_HUMAN	Q	26	ENSP00000380942:R26Q;ENSP00000349056:R26Q	ENSP00000349056:R26Q	R	+	2	0	ARHGEF12	119783677	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.081000	0.64444	2.675000	0.91044	0.650000	0.86243	CGA		0.328	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		29	49	0	0	0	1	0	29	49					A	120278467	G	A	120278467	3	1	48	1	0	0	0	0	1	0	0	0	897	1058	37	1	87	1	ARHGEF12	11	120278467	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	138540	120278467	14728049	2835	7303										
GRIK4	2900	broad.mit.edu	37	chr11	120690496	120690496	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaagtggccccagaggagttCgtcaagttccagttccagag	12	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:120690496C>T	ENST00000527524.2	+	6	665	c.378C>T	c.(376-378)ttC>ttT	p.F126F	GRIK4_ENST00000438375.2_Silent_p.F126F	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	126					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)		CAGAGGAGTTCGTCAAGTTCC	0.532																																						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.(376-378)ttC>ttT		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						235	240	238					11																	120690496		2203	4299	6502	SO:0001819	synonymous_variant	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120690496C>T	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.378C>T	11.37:g.120690496C>T			Somatic				GRIK4_ENST00000438375.2_Silent_p.F126F	p.F126F			WXS	Illumina GAIIx	Phase_I	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	6	665	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	126					A8K9L1	Silent	SNP	ENST00000527524.2	37	c.378C>T	CCDS8433.1																																																																																				0.532	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		102	208	0	0	0	1	0	102	208					T	120690496	C	T	120690496	2	4	48	1	0	0	0	0	0	0	0	1	6785	883	31	1		1	GRIK4	11	120690496	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	412029	120690496	14316020	2836	7304										
GRIK4	2900	broad.mit.edu	37	chr11	120852900	120852900	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttatggctatgttggagttTttatggactctcagacactc	9	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:120852900T>G	ENST00000527524.2	+	20	2768	c.2481T>G	c.(2479-2481)ttT>ttG	p.F827L	GRIK4_ENST00000438375.2_Missense_Mutation_p.F827L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	827					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)		TGTTGGAGTTTTTATGGACTC	0.433																																						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.(2479-2481)ttT>ttG		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						211	213	212					11																	120852900		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.chr11:120852900T>G	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.2481T>G	11.37:g.120852900T>G	ENSP00000435648:p.Phe827Leu		Somatic				GRIK4_ENST00000438375.2_Missense_Mutation_p.F827L	p.F827L			WXS	Illumina GAIIx	Phase_I	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	20	2768	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	827					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.2481T>G	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.593163	0.86953	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.15139	2.45;2.45	5.74	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.21761	0.0524	M	0.63843	1.955	0.58432	D	0.999998	P	0.48230	0.907	P	0.46208	0.507	T	0.00989	-1.1489	10	0.54805	T	0.06	.	8.3614	0.32361	0.0:0.1698:0.0:0.8302	.	827	Q16099	GRIK4_HUMAN	L	827	ENSP00000435648:F827L;ENSP00000404063:F827L	ENSP00000404063:F827L	F	+	3	2	GRIK4	120358110	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.569000	0.45973	0.463000	0.27118	0.533000	0.62120	TTT		0.433	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		29	83	0	0	0	1	0	29	83					G	120852900	T	G	120852900	3	3	48	1	0	0	0	0	1	0	0	0	6785	1838	64	4	2551	4	GRIK4	11	120852900	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	162404	120852900	14153616	2837	7305										
TECTA	7007	broad.mit.edu	37	chr11	121008215	121008215	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttaccctgggccccatctgCgtggatagctgctctgaggg	13	13	2	1	rs564015728		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:121008215C>T	ENST00000392793.1	+	11	3298	c.3027C>T	c.(3025-3027)tgC>tgT	p.C1009C	TECTA_ENST00000264037.2_Silent_p.C1009C			O75443	TECTA_HUMAN	tectorin alpha	1009	TIL 2.				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)		GCCCCATCTGCGTGGATAGCT	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.(3025-3027)tgC>tgT		tectorin alpha							140	117	125					11																	121008215		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121008215C>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.3027C>T	11.37:g.121008215C>T			Somatic				TECTA_ENST00000264037.2_Silent_p.C1009C	p.C1009C			WXS	Illumina GAIIx	Phase_I	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	11	3298	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1009			TIL 2.			Silent	SNP	ENST00000392793.1	37	c.3027C>T	CCDS8434.1																																																																																				0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		33	57	0	0	0	1	0	33	57					T	121008215	C	T	121008215	2	4	48	1	0	0	0	0	0	0	0	1	15762	776	27	1		1	TECTA	11	121008215	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	155315	121008215	13998301	2838	7306										
SORL1	6653	broad.mit.edu	37	chr11	121456952	121456952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagaagtgcaatggattccGctgcccaaacggcacttgca	11	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:121456952G>A	ENST00000260197.7	+	27	3857	c.3728G>A	c.(3727-3729)cGc>cAc	p.R1243H	SORL1_ENST00000532694.1_Missense_Mutation_p.R89H|SORL1_ENST00000525532.1_Missense_Mutation_p.R187H|SORL1_ENST00000534286.1_Missense_Mutation_p.R153H	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1243	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AATGGATTCCGCTGCCCAAAC	0.507																																						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.(3727-3729)cGc>cAc		sortilin-related receptor, L(DLR class) A repeats containing							179	171	173					11																	121456952		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121456952G>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.3728G>A	11.37:g.121456952G>A	ENSP00000260197:p.Arg1243His		Somatic				SORL1_ENST00000532694.1_Missense_Mutation_p.R89H|SORL1_ENST00000525532.1_Missense_Mutation_p.R187H|SORL1_ENST00000534286.1_Missense_Mutation_p.R153H	p.R1243H	NM_003105.5	NP_003096.1	WXS	Illumina GAIIx	Phase_I	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	27	3857	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1243			LDL-receptor class A 5.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.3728G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.731791	0.48939	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286	D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92	5.7	1.17	0.20885	.	0.434784	0.25027	N	0.033717	D	0.91382	0.7281	L	0.52759	1.655	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	D	0.83820	0.0246	10	0.35671	T	0.21	.	7.9957	0.30267	0.6475:0.0:0.3525:0.0	.	1243	Q92673	SORL_HUMAN	H	1243;187;89;153	ENSP00000260197:R1243H;ENSP00000434634:R187H;ENSP00000432131:R89H;ENSP00000436447:R153H	ENSP00000260197:R1243H	R	+	2	0	SORL1	120962162	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.419000	0.34793	0.177000	0.19895	0.591000	0.81541	CGC		0.507	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		39	74	0	0	0	1	0	39	74					A	121456952	G	A	121456952	3	1	48	1	0	0	0	0	1	0	0	0	14949	1087	38	1	3834	1	SORL1	11	121456952	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	448737	121456952	13549564	2839	7307										
UBASH3B	84959	broad.mit.edu	37	chr11	122647912	122647912	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacatcacactctgccagttCtttatggtgagcggcagcgc	10	13	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:122647912C>A	ENST00000284273.5	+	3	771	c.396C>A	c.(394-396)ttC>ttA	p.F132L		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	132					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)		TCTGCCAGTTCTTTATGGTGA	0.592																																						ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(394-396)ttC>ttA		ubiquitin associated and SH3 domain containing B							64	58	60					11																	122647912		2202	4299	6501	SO:0001583	missense	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122647912C>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.396C>A	11.37:g.122647912C>A	ENSP00000284273:p.Phe132Leu		Somatic					p.F132L	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)	3	771	+		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)	132					Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	c.396C>A	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360533	0.82353	.	.	ENSG00000154127	ENST00000284273	T	0.33438	1.41	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	M	0.76838	2.35	0.80722	D	1	D	0.65815	0.995	D	0.70227	0.968	T	0.57717	-0.7763	10	0.66056	D	0.02	-9.7807	12.1578	0.54087	0.0:0.9209:0.0:0.0791	.	132	Q8TF42	UBS3B_HUMAN	L	132	ENSP00000284273:F132L	ENSP00000284273:F132L	F	+	3	2	UBASH3B	122153122	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.907000	0.56348	2.494000	0.84150	0.655000	0.94253	TTC		0.592	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		12	25	1	0	4.3838e-07	1	4.998e-07	12	25					A	122647912	C	A	122647912	3	1	48	1	0	0	0	0	1	0	0	0	16855	912	32	2	406	2	UBASH3B	11	122647912	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1190960	122647912	12358604	2840	7308										
SCN3B	55800	broad.mit.edu	37	chr11	123513189	123513189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttagggggatcagccgcgtcGtcttcacaaagggccgatgc	14	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:123513189G>A	ENST00000392770.2	-	3	1212	c.410C>T	c.(409-411)aCg>aTg	p.T137M	SCN3B_ENST00000299333.3_Missense_Mutation_p.T137M|SCN3B_ENST00000530277.1_Missense_Mutation_p.T137M	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	137	Ig-like C2-type.				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)	CAGCCGCGTCGTCTTCACAAA	0.592																																						ENST00000392770.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26						c.(409-411)aCg>aTg		sodium channel, voltage-gated, type III, beta subunit							80	75	77					11																	123513189		2202	4299	6501	SO:0001583	missense	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123513189G>A	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.410C>T	11.37:g.123513189G>A	ENSP00000376523:p.Thr137Met		Somatic				SCN3B_ENST00000299333.3_Missense_Mutation_p.T137M|SCN3B_ENST00000530277.1_Missense_Mutation_p.T137M	p.T137M	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)	3	1212	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	137			Ig-like C2-type.		A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	ENST00000392770.2	37	c.410C>T	CCDS8442.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262382	0.59431	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.221122	0.52532	D	0.000065	T	0.53384	0.1793	L	0.34521	1.04	0.34862	D	0.742776	D	0.54207	0.965	B	0.37047	0.24	T	0.67507	-0.5653	10	0.45353	T	0.12	0.9634	14.8759	0.70493	0.0:0.2504:0.7496:0.0	.	137	Q9NY72	SCN3B_HUMAN	M	137	ENSP00000376523:T137M;ENSP00000299333:T137M;ENSP00000432785:T137M;ENSP00000435554:T137M	ENSP00000299333:T137M	T	-	2	0	SCN3B	123018399	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.089000	0.41672	2.854000	0.98071	0.655000	0.94253	ACG		0.592	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		34	43	0	0	0	1	0	34	43					A	123513189	G	A	123513189	3	1	48	1	0	0	0	0	1	0	0	0	13934	1145	40	1	249	1	SCN3B	11	123513189	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	865277	123513189	11493327	2841	7309										
OR6M1	390261	broad.mit.edu	37	chr11	123677048	123677048	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatttcagtcacagtgctccAgtttcccatgacaactacta	6	12	2	1	rs575728733		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:123677048A>T	ENST00000309154.2	-	1	47	c.10T>A	c.(10-12)Tgg>Agg	p.W4R		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		ACAGTGCTCCAGTTTCCCATG	0.418																																						ENST00000309154.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(10-12)Tgg>Agg		olfactory receptor, family 6, subfamily M, member 1							61	56	58					11																	123677048		2202	4299	6501	SO:0001583	missense	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123677048A>T	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"GPCR / Class A : Olfactory receptors"	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.10T>A	11.37:g.123677048A>T	ENSP00000311038:p.Trp4Arg		Somatic					p.W4R	NM_001005325.1	NP_001005325.1	WXS	Illumina GAIIx	Phase_I	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	47	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	4					B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	c.10T>A	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	A	3.490	-0.104062	0.06967	.	.	ENSG00000196099	ENST00000309154	T	0.00487	7.05	3.57	-4.23	0.03789	.	1.233450	0.06272	U	0.695855	T	0.00210	0.0006	N	0.05306	-0.075	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.29852	-0.9998	10	0.34782	T	0.22	.	5.4898	0.16769	0.375:0.4168:0.2082:0.0	.	4	Q8NGM8	OR6M1_HUMAN	R	4	ENSP00000311038:W4R	ENSP00000311038:W4R	W	-	1	0	OR6M1	123182258	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.824000	0.04438	-0.769000	0.04620	-0.312000	0.09012	TGG		0.418	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		4	42	0	0	0	1	0	4	42					T	123677048	A	T	123677048	3	4	48	1	0	0	0	0	1	0	0	0	11214	188	7	4	934	4	OR6M1	11	123677048	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	163859	123677048	11329468	2842	7310										
OR4D5	219875	broad.mit.edu	37	chr11	123810531	123810531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgggcaatctttctttcctgGacttttgctactcttccatc	6	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:123810531G>A	ENST00000307033.2	+	1	282	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	70						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)		TTCTTTCCTGGACTTTTGCTA	0.468																																						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.(208-210)Gac>Aac		olfactory receptor, family 4, subfamily D, member 5							186	157	167					11																	123810531		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810531G>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.208G>A	11.37:g.123810531G>A	ENSP00000305970:p.Asp70Asn		Somatic					p.D70N	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	282	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	70					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.208G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551616	0.86127	.	.	ENSG00000171014	ENST00000307033	T	0.01165	5.24	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000094	T	0.10937	0.0267	M	0.92122	3.275	0.43183	D	0.995007	D	0.76494	0.999	D	0.72982	0.979	T	0.01051	-1.1468	10	0.87932	D	0	-13.3399	18.4948	0.90861	0.0:0.0:1.0:0.0	.	70	Q8NGN0	OR4D5_HUMAN	N	70	ENSP00000305970:D70N	ENSP00000305970:D70N	D	+	1	0	OR4D5	123315741	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.376000	0.66178	2.457000	0.83068	0.655000	0.94253	GAC		0.468	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		32	63	0	0	0	1	0	32	63					A	123810531	G	A	123810531	3	1	48	1	0	0	0	0	1	0	0	0	11066	1174	41	3	210	3	OR4D5	11	123810531	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	133483	123810531	11195985	2843	7311										
OR6T1	219874	broad.mit.edu	37	chr11	123814421	123814421	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagcacaataattagcagcTtgcctgtggctgttacaatg	10	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:123814421T>G	ENST00000321252.2	-	1	159	c.125A>C	c.(124-126)aAg>aCg	p.K42T		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	42						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)		AATTAGCAGCTTGCCTGTGGC	0.488																																						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.(124-126)aAg>aCg		olfactory receptor, family 6, subfamily T, member 1							125	117	120					11																	123814421		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123814421T>G	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.125A>C	11.37:g.123814421T>G	ENSP00000325203:p.Lys42Thr		Somatic					p.K42T	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	159	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	42					Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.125A>C	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	T	10.19	1.281735	0.23392	.	.	ENSG00000181499	ENST00000321252	T	0.36520	1.25	3.74	3.74	0.42951	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.22513	0.0543	N	0.12182	0.205	0.19575	N	0.999968	B	0.02656	0.0	B	0.04013	0.001	T	0.17930	-1.0353	9	0.87932	D	0	-54.3112	10.4275	0.44387	0.0:0.0:0.0:1.0	.	42	Q8NGN1	OR6T1_HUMAN	T	42	ENSP00000325203:K42T	ENSP00000325203:K42T	K	-	2	0	OR6T1	123319631	1.000000	0.71417	0.355000	0.25773	0.495000	0.33615	6.404000	0.73268	1.562000	0.49601	0.533000	0.62120	AAG		0.488	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		9	135	0	0	0	1	0	9	135					G	123814421	T	G	123814421	3	3	48	1	0	0	0	0	1	0	0	0	11219	1609	56	4	849	4	OR6T1	11	123814421	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	3890	123814421	11192095	2844	7312										
OR8B2	26595	broad.mit.edu	37	chr11	124253032	124253032	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacagaggagtaacagagatCaatgaaggagagattgaaga	13	3	1	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124253032C>A	ENST00000375013.2	-	1	226	c.208G>T	c.(208-210)Gat>Tat	p.D70Y		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAACAGAGATCAATGAAGGAG	0.403																																						ENST00000375013.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23						c.(208-210)Gat>Tat		olfactory receptor, family 8, subfamily B, member 2							143	134	137					11																	124253032		2201	4296	6497	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124253032C>A	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"GPCR / Class A : Olfactory receptors"	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.208G>T	11.37:g.124253032C>A	ENSP00000364152:p.Asp70Tyr		Somatic					p.D70Y	NM_001005468.1	NP_001005468.1	WXS	Illumina GAIIx	Phase_I	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	226	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	70					Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.208G>T	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	c	14.60	2.584216	0.46110	.	.	ENSG00000204293	ENST00000375013	T	0.01185	5.21	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.08268	0.0206	H	0.98048	4.135	0.27324	N	0.956956	D	0.57899	0.981	P	0.49752	0.621	T	0.24693	-1.0153	10	0.87932	D	0	.	15.7133	0.77649	0.0:1.0:0.0:0.0	.	70	Q96RD0	OR8B2_HUMAN	Y	70	ENSP00000364152:D70Y	ENSP00000364152:D70Y	D	-	1	0	OR8B2	123758242	0.958000	0.32768	0.149000	0.22428	0.551000	0.35334	2.866000	0.48420	2.359000	0.80004	0.400000	0.26472	GAT		0.403	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		35	104	1	0	4.62619e-21	1	6.37263e-21	35	104					A	124253032	C	A	124253032	3	1	48	1	0	0	0	0	1	0	0	0	11236	826	29	2	736	2	OR8B2	11	124253032	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	438611	124253032	10753484	2845	7313										
OR8A1	390275	broad.mit.edu	37	chr11	124440834	124440834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgacccaggagaatgtggcCtctgtgttctacaccacggt	11	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124440834C>T	ENST00000284287.3	+	1	942	c.870C>T	c.(868-870)gcC>gcT	p.A290A		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	290					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AGAATGTGGCCTCTGTGTTCT	0.502																																						ENST00000284287.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22						c.(868-870)gcC>gcT		olfactory receptor, family 8, subfamily A, member 1							85	74	78					11																	124440834		2201	4299	6500	SO:0001819	synonymous_variant	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440834C>T	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"GPCR / Class A : Olfactory receptors"	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.870C>T	11.37:g.124440834C>T			Somatic					p.A290A	NM_001005194.1	NP_001005194.1	WXS	Illumina GAIIx	Phase_I	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	942	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	290					Q6IEW7|Q96RC6	Silent	SNP	ENST00000284287.3	37	c.870C>T	CCDS31712.1																																																																																				0.502	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		25	58	0	0	0	1	0	25	58					T	124440834	C	T	124440834	2	4	48	1	0	0	0	0	0	0	0	1	11234	668	24	3		3	OR8A1	11	124440834	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	187802	124440834	10565682	2846	7314										
PANX3	116337	broad.mit.edu	37	chr11	124489663	124489663	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttttcctccgagctaacatCtctgagctcatctcttttag	5	13	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124489663C>A	ENST00000284288.2	+	4	1078	c.1011C>A	c.(1009-1011)atC>atA	p.I337I		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	337					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)		GAGCTAACATCTCTGAGCTCA	0.428																																						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.(1009-1011)atC>atA		pannexin 3							164	144	151					11																	124489663		2201	4299	6500	SO:0001819	synonymous_variant	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489663C>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.1011C>A	11.37:g.124489663C>A			Somatic					p.I337I	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	1078	+	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)	337						Silent	SNP	ENST00000284288.2	37	c.1011C>A	CCDS8447.1																																																																																				0.428	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1			24	55	1	0	6.44725e-10	1	7.85205e-10	24	55					A	124489663	C	A	124489663	2	1	48	1	0	0	0	0	0	0	0	1	11431	903	32	2		2	PANX3	11	124489663	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	48829	124489663	10516853	2847	7315										
ROBO3	64221	broad.mit.edu	37	chr11	124748211	124748211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggagccaagggaggcaaaGtgaagcttctggggaaacct	15	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124748211G>A	ENST00000397801.1	+	22	3391	c.3199G>A	c.(3199-3201)Gtg>Atg	p.V1067M	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.V1045M|ROBO3_ENST00000543966.1_Intron	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1067					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)		GGGAGGCAAAGTGAAGCTTCT	0.582																																						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.(3199-3201)Gtg>Atg		roundabout, axon guidance receptor, homolog 3 (Drosophila)							48	61	57					11																	124748211		1941	4143	6084	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124748211G>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.3199G>A	11.37:g.124748211G>A	ENSP00000380903:p.Val1067Met		Somatic				ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_Intron|ROBO3_ENST00000538940.1_Missense_Mutation_p.V1045M	p.V1067M	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)	22	3391	+	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)	1067						Missense_Mutation	SNP	ENST00000397801.1	37	c.3199G>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940048	0.52972	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.62639	0.01;0.02	5.44	3.31	0.37934	.	0.775582	0.10490	N	0.668507	T	0.49201	0.1543	N	0.22421	0.69	0.80722	D	1	P	0.34780	0.468	B	0.36808	0.233	T	0.44862	-0.9300	10	0.51188	T	0.08	.	9.2744	0.37690	0.0:0.1469:0.6827:0.1704	.	1067	Q96MS0	ROBO3_HUMAN	M	1067;1045	ENSP00000380903:V1067M;ENSP00000441797:V1045M	ENSP00000380903:V1067M	V	+	1	0	ROBO3	124253421	1.000000	0.71417	0.888000	0.34837	0.972000	0.66771	3.361000	0.52306	1.254000	0.44035	0.650000	0.86243	GTG		0.582	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		9	14	0	0	0	1	0	9	14					A	124748211	G	A	124748211	3	1	48	1	0	0	0	0	1	0	0	0	13530	1029	36	3	3285	3	ROBO3	11	124748211	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	258548	124748211	10258305	2848	7316										
ROBO4	54538	broad.mit.edu	37	chr11	124763776	124763776	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgggcccaggtgcaccctaGctcggcgccggcggtggata	16	14	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124763776G>T	ENST00000306534.3	-	9	1969	c.1484C>A	c.(1483-1485)gCt>gAt	p.A495D	ROBO4_ENST00000533054.1_Missense_Mutation_p.A350D|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	495					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.A495D(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)		GTGCACCCTAGCTCGGCGCCG	0.632																																						ENST00000306534.3																			1	Substitution - Missense(1)	p.A495D(1)	ovary(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.(1483-1485)gCt>gAt		roundabout, axon guidance receptor, homolog 4 (Drosophila)							19	23	22					11																	124763776		2200	4297	6497	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124763776G>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.1484C>A	11.37:g.124763776G>T	ENSP00000304945:p.Ala495Asp		Somatic				ROBO4_ENST00000533054.1_Missense_Mutation_p.A350D	p.A495D	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)	9	1969	-	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)	495					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.1484C>A	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391812	0.62066	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.64260	-0.09;0.27	5.31	4.34	0.51931	.	0.000000	0.37219	N	0.002184	T	0.65606	0.2707	M	0.63428	1.95	0.09310	N	1	P;D;P	0.53151	0.571;0.958;0.915	B;P;B	0.51229	0.395;0.663;0.374	T	0.59867	-0.7373	10	0.42905	T	0.14	.	11.1115	0.48235	0.0:0.1866:0.8134:0.0	.	495;385;495	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	D	495;385;350	ENSP00000304945:A495D;ENSP00000437129:A350D	ENSP00000304945:A495D	A	-	2	0	ROBO4	124268986	0.030000	0.19436	0.257000	0.24404	0.949000	0.60115	2.179000	0.42528	2.481000	0.83766	0.655000	0.94253	GCT		0.632	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		10	15	1	0	3.86212e-05	1	4.21111e-05	10	15					T	124763776	G	T	124763776	3	4	48	1	0	0	0	0	1	0	0	0	13531	971	34	5	1579	5	ROBO4	11	124763776	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	15565	124763776	10242740	2849	7317										
HEPACAM	220296	broad.mit.edu	37	chr11	124793762	124793762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgggggacaggagcattctcGagtcattgaggaggggcttg	18	7	2	1	rs373992036		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124793762G>A	ENST00000298251.4	-	3	977	c.572C>T	c.(571-573)tCg>tTg	p.S191L		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)		GAGCATTCTCGAGTCATTGAG	0.582													G|||	1	0.000199681	0	0	5008	,	,		20957	0		0	False		,,,				2504	0.001					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.(571-573)tCg>tTg		hepatic and glial cell adhesion molecule		G	LEU/SER	1,4401	2.1+/-5.4	0,1,2200	128	91	103		572	5.7	1	11		103	0,8598		0,0,4299	no	missense	HEPACAM	NM_152722.4	145	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	191/417	124793762	1,12999	2201	4299	6500	SO:0001583	missense	220296				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		g.chr11:124793762G>A	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.572C>T	11.37:g.124793762G>A	ENSP00000298251:p.Ser191Leu		Somatic					p.S191L	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	977	-	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)	191			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000298251.4	37	c.572C>T	CCDS8456.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956873	0.92726	2.27E-4	0.0	ENSG00000165478	ENST00000298251;ENST00000374961	T	0.79033	-1.23	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.288893	0.39210	N	0.001430	D	0.83700	0.5311	M	0.79258	2.445	0.53688	D	0.999976	P;D	0.53462	0.938;0.96	P;P	0.48704	0.454;0.587	D	0.84641	0.0695	10	0.49607	T	0.09	-12.799	19.7543	0.96284	0.0:0.0:1.0:0.0	.	191;191	Q14CZ8-2;Q14CZ8	.;HECAM_HUMAN	L	191	ENSP00000298251:S191L	ENSP00000298251:S191L	S	-	2	0	HEPACAM	124298972	1.000000	0.71417	0.960000	0.40013	0.920000	0.55202	6.699000	0.74613	2.676000	0.91093	0.655000	0.94253	TCG		0.582	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	NM_152722		18	28	0	0	0	1	0	18	28					A	124793762	G	A	124793762	3	1	48	1	0	0	0	0	1	0	0	0	7061	1059	37	1	698	1	HEPACAM	11	124793762	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	29986	124793762	10212754	2850	7318										
CCDC15	80071	broad.mit.edu	37	chr11	124824652	124824652	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgggaagtatggcccgaaaGaaacctcgaaatacctcaag	10	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124824652G>T	ENST00000344762.5	+	2	283	c.24G>T	c.(22-24)aaG>aaT	p.K8N	CCDC15_ENST00000529051.1_Missense_Mutation_p.K8N	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	8						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)		TGGCCCGAAAGAAACCTCGAA	0.463																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(22-24)aaG>aaT		coiled-coil domain containing 15							124	125	125					11																	124824652		1915	4142	6057	SO:0001583	missense	80071					centrosome		g.chr11:124824652G>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.24G>T	11.37:g.124824652G>T	ENSP00000341684:p.Lys8Asn		Somatic				CCDC15_ENST00000344762.5_Missense_Mutation_p.K8N	p.K8N			WXS	Illumina GAIIx	Phase_I	Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	2	283	+	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)	8					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.24G>T	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.545078	0.65198	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.44083	0.94;0.93	5.48	4.37	0.52481	.	0.276731	0.29314	N	0.012511	T	0.50034	0.1592	M	0.63428	1.95	0.18873	N	0.999981	P	0.51351	0.944	P	0.52957	0.714	T	0.46205	-0.9208	10	0.66056	D	0.02	-18.2751	10.0466	0.42190	0.1066:0.0:0.8934:0.0	.	8	Q0P6D6	CCD15_HUMAN	N	8	ENSP00000435403:K8N;ENSP00000341684:K8N	ENSP00000341684:K8N	K	+	3	2	CCDC15	124329862	0.998000	0.40836	0.996000	0.52242	0.673000	0.39480	3.051000	0.49885	2.558000	0.86282	0.460000	0.39030	AAG		0.463	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		56	94	1	0	5.2118e-15	1	6.84239e-15	56	94					T	124824652	G	T	124824652	3	4	48	1	0	0	0	0	1	0	0	0	2786	933	33	2	26	2	CCDC15	11	124824652	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	30890	124824652	10181864	2851	7319										
CCDC15	80071	broad.mit.edu	37	chr11	124910539	124910539	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgtgatgtccctgggggtAattcaactcttcgagtcgca	11	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124910539A>G	ENST00000344762.5	+	16	3047	c.2788A>G	c.(2788-2790)Aat>Gat	p.N930D	CCDC15_ENST00000530061.1_3'UTR|CCDC15_ENST00000529051.1_Missense_Mutation_p.N941D	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	930						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)		CCCTGGGGGTAATTCAACTCT	0.368																																						ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(2821-2823)Aat>Gat		coiled-coil domain containing 15							57	56	56					11																	124910539		1837	4084	5921	SO:0001583	missense	80071					centrosome		g.chr11:124910539A>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.2788A>G	11.37:g.124910539A>G	ENSP00000341684:p.Asn930Asp		Somatic				CCDC15_ENST00000530061.1_3'UTR|CCDC15_ENST00000344762.5_Missense_Mutation_p.N930D	p.N941D			WXS	Illumina GAIIx	Phase_I	Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	16	3080	+	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)	930					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.2821A>G	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	A	8.061	0.768028	0.15983	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.35048	1.33;1.33	5.13	2.67	0.31697	.	.	.	.	.	T	0.34542	0.0901	L	0.50333	1.59	0.09310	N	1	P	0.50272	0.933	P	0.47346	0.544	T	0.10941	-1.0608	9	0.31617	T	0.26	-3.5557	6.2753	0.20977	0.6079:0.3107:0.0814:0.0	.	930	Q0P6D6	CCD15_HUMAN	D	941;930	ENSP00000435403:N941D;ENSP00000341684:N930D	ENSP00000341684:N930D	N	+	1	0	CCDC15	124415749	0.140000	0.22579	0.202000	0.23494	0.122000	0.20287	1.055000	0.30467	0.361000	0.24292	0.533000	0.62120	AAT		0.368	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		7	11	0	0	0	1	0	7	11					G	124910539	A	G	124910539	3	3	48	1	0	0	0	0	1	0	0	0	2786	362	13	4	2846	4	CCDC15	11	124910539	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	85887	124910539	10095977	2852	7320										
PUS3	83480	broad.mit.edu	37	chr11	125763958	125763958	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatgacagagggcttaacatTtccccattctgtcattccat	6	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:125763958T>C	ENST00000530811.1	-	3	1213	c.1168A>G	c.(1168-1170)Aat>Gat	p.N390D	HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.N390D|HYLS1_ENST00000425380.2_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	390					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	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;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		GGCTTAACATTTCCCCATTCT	0.458																																						ENST00000227474.3																			0				NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(1168-1170)Aat>Gat		pseudouridylate synthase 3							159	150	153					11																	125763958		2201	4299	6500	SO:0001583	missense	83480					nucleus	RNA binding	g.chr11:125763958T>C	BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.1168A>G	11.37:g.125763958T>C	ENSP00000432386:p.Asn390Asp		Somatic				PUS3_ENST00000530811.1_Missense_Mutation_p.N390D|HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron	p.N390D	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	WXS	Illumina GAIIx	Phase_I	Q9BZE2	PUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)	4	1265	-	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)	390					B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	ENST00000530811.1	37	c.1168A>G	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.305687	0.23736	.	.	ENSG00000110060	ENST00000227474;ENST00000530811	T;T	0.29397	1.57;1.57	5.41	1.67	0.24075	.	0.530319	0.19114	N	0.122367	T	0.13713	0.0332	N	0.20401	0.57	0.21878	N	0.999497	B	0.02656	0.0	B	0.04013	0.001	T	0.24154	-1.0168	10	0.12430	T	0.62	-4.4384	2.9426	0.05835	0.0:0.3137:0.2412:0.445	.	390	Q9BZE2	PUS3_HUMAN	D	390	ENSP00000227474:N390D;ENSP00000432386:N390D	ENSP00000227474:N390D	N	-	1	0	PUS3	125269168	0.031000	0.19500	0.275000	0.24674	0.829000	0.46940	0.215000	0.17562	0.343000	0.23821	0.482000	0.46254	AAT		0.458	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	NM_031307		25	53	0	0	0	1	0	25	53					C	125763958	T	C	125763958	3	2	48	1	0	0	0	0	1	0	0	0	12847	1841	64	4	281	4	PUS3	11	125763958	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	853419	125763958	9242558	2853	7321										
FOXRED1	55572	broad.mit.edu	37	chr11	126141541	126141541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcgagtgctagtggtggaaCgggaccacacggtgaggtct	16	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:126141541C>T	ENST00000263578.5	+	2	369	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	FOXRED1_ENST00000442061.2_Intron|SRPR_ENST00000332118.6_5'Flank|SRPR_ENST00000530680.1_5'Flank|FOXRED1_ENST00000532125.1_Missense_Mutation_p.R85W|FOXRED1_ENST00000534011.1_Intron|SRPR_ENST00000532259.1_5'Flank	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	99						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		AGTGGTGGAACGGGACCACAC	0.547																																						ENST00000263578.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(295-297)Cgg>Tgg		FAD-dependent oxidoreductase domain containing 1							105	88	94					11																	126141541		2201	4298	6499	SO:0001583	missense	55572					integral to membrane|mitochondrion	oxidoreductase activity|protein binding	g.chr11:126141541C>T		CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.295C>T	11.37:g.126141541C>T	ENSP00000263578:p.Arg99Trp		Somatic				FOXRED1_ENST00000534011.1_Intron|FOXRED1_ENST00000532125.1_Missense_Mutation_p.R85W|FOXRED1_ENST00000442061.2_Intron	p.R99W	NM_017547.3	NP_060017.1	WXS	Illumina GAIIx	Phase_I	Q96CU9	FXRD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)	2	369	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)	99					B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Missense_Mutation	SNP	ENST00000263578.5	37	c.295C>T	CCDS8471.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902278	0.52227	.	.	ENSG00000110074	ENST00000263578;ENST00000532125	D;D	0.87179	-2.22;-2.22	5.4	4.45	0.53987	FAD dependent oxidoreductase (1);	0.333576	0.27294	N	0.020026	D	0.94019	0.8084	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.977;0.987	D	0.94716	0.7896	10	0.87932	D	0	-17.8316	13.2438	0.60012	0.2857:0.7143:0.0:0.0	.	85;99	Q96CU9-3;Q96CU9	.;FXRD1_HUMAN	W	99;85	ENSP00000263578:R99W;ENSP00000434178:R85W	ENSP00000263578:R99W	R	+	1	2	FOXRED1	125646751	0.989000	0.36119	0.990000	0.47175	0.315000	0.28087	2.776000	0.47709	2.538000	0.85594	0.579000	0.79373	CGG		0.547	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1	NM_017547		18	46	0	0	0	1	0	18	46					T	126141541	C	T	126141541	3	4	48	1	0	0	0	0	1	0	0	0	6041	527	19	1	301	1	FOXRED1	11	126141541	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	377583	126141541	8864975	2854	7322										
ST3GAL4	6484	broad.mit.edu	37	chr11	126279209	126279209	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcccctcatctgggatgtcaAtcctaaacagattcggattc	7	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:126279209A>C	ENST00000526727.1	+	8	1048	c.674A>C	c.(673-675)aAt>aCt	p.N225T	ST3GAL4_ENST00000534083.1_Missense_Mutation_p.N225T|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.N224T|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.N221T|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.N225T|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.N225T|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.N221T|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.N220T|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.N214T|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.N231T			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	225					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|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)|protein N-linked glycosylation via asparagine (GO:0018279)|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)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		TGGGATGTCAATCCTAAACAG	0.517																																						ENST00000526727.1																			0				endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9						c.(673-675)aAt>aCt		ST3 beta-galactoside alpha-2,3-sialyltransferase 4							131	126	128					11																	126279209		2201	4298	6499	SO:0001583	missense	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126279209A>C	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"Sialyltransferases"	10864	protein-coding gene	gene with protein product	"ST3Gal IV"	104240	"sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.674A>C	11.37:g.126279209A>C	ENSP00000436047:p.Asn225Thr		Somatic				ST3GAL4_ENST00000532243.1_Missense_Mutation_p.N224T|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.N214T|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.N225T|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.N225T|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.N220T|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.N225T|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.N221T|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.N231T|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.N221T	p.N225T			WXS	Illumina GAIIx	Phase_I	Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	8	1048	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	225					A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	ENST00000526727.1	37	c.674A>C	CCDS58193.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642792	0.29246	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457;ENST00000524860	T;T;T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.72	3.37	0.38596	.	0.345887	0.38436	N	0.001696	T	0.31136	0.0787	L	0.52126	1.63	0.36037	D	0.839859	P;B;B	0.47677	0.899;0.044;0.044	P;B;B	0.48873	0.593;0.077;0.077	T	0.27706	-1.0066	10	0.31617	T	0.26	-38.4613	6.2144	0.20648	0.7822:0.0:0.0769:0.1409	.	174;221;225	Q9HAA9;Q6IBE6;Q11206	.;.;SIA4C_HUMAN	T	221;225;231;221;225;225;225;214;224;220;61	ENSP00000227495:N221T;ENSP00000394354:N225T;ENSP00000348451:N231T;ENSP00000433989:N221T;ENSP00000433318:N225T;ENSP00000376437:N225T;ENSP00000436047:N225T;ENSP00000399444:N214T;ENSP00000434349:N224T;ENSP00000434668:N220T;ENSP00000431170:N61T	ENSP00000227495:N221T	N	+	2	0	ST3GAL4	125784419	1.000000	0.71417	0.858000	0.33744	0.435000	0.31806	5.089000	0.64492	0.414000	0.25790	0.533000	0.62120	AAT		0.517	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		49	101	0	0	0	1	0	49	101					C	126279209	A	C	126279209	3	2	48	1	0	0	0	0	1	0	0	0	15232	101	4	4	692	4	ST3GAL4	11	126279209	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	137668	126279209	8727307	2855	7323										
ARHGAP32	9743	broad.mit.edu	37	chr11	128839659	128839659	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccttctgccactgagagaaGtccagttttcccaggatctg	9	12	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:128839659G>T	ENST00000310343.9	-	22	5406	c.5407C>A	c.(5407-5409)Ctt>Att	p.L1803I	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.L1454I|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.L1454I|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1803	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						ACTGAGAGAAGTCCAGTTTTC	0.547																																						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.(5407-5409)Ctt>Att		Rho GTPase activating protein 32							92	90	90					11																	128839659		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.chr11:128839659G>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.5407C>A	11.37:g.128839659G>T	ENSP00000310561:p.Leu1803Ile		Somatic				ARHGAP32_ENST00000527272.1_Missense_Mutation_p.L1454I|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.L1454I|ARHGAP32_ENST00000524655.1_3'UTR	p.L1803I	NM_001142685.1	NP_001136157.1	WXS	Illumina GAIIx	Phase_I	A7KAX9	RHG32_HUMAN			22	5406	-			1803			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.5407C>A	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318716	0.81469	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.14893	2.5;2.47;2.47	6.07	6.07	0.98685	.	0.067447	0.64402	D	0.000010	T	0.44582	0.1300	M	0.68952	2.095	0.44976	D	0.997993	D	0.76494	0.999	D	0.78314	0.991	T	0.15867	-1.0422	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1803	A7KAX9	RHG32_HUMAN	I	1803;1454;1454	ENSP00000310561:L1803I;ENSP00000376425:L1454I;ENSP00000432862:L1454I	ENSP00000310561:L1803I	L	-	1	0	ARHGAP32	128344869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.075000	0.64407	2.884000	0.98904	0.655000	0.94253	CTT		0.547	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		18	97	1	0	6.94344e-10	1	8.4399e-10	18	97					T	128839659	G	T	128839659	3	4	48	1	0	0	0	0	1	0	0	0	881	1029	36	5	860	5	ARHGAP32	11	128839659	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2560450	128839659	6166857	2856	7324										
BARX2	8538	broad.mit.edu	37	chr11	129246058	129246058	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgattactttgagaaactttCcctctactccgtgtgcccgt	7	13	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:129246058C>T	ENST00000281437.4	+	1	224	c.128C>T	c.(127-129)tCc>tTc	p.S43F		NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	43					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)			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)		GAGAAACTTTCCCTCTACTCC	0.582											OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000281437.4																			0				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.(127-129)tCc>tTc		BARX homeobox 2							154	167	162					11																	129246058		2201	4297	6498	SO:0001583	missense	8538							g.chr11:129246058C>T	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.128C>T	11.37:g.129246058C>T	ENSP00000281437:p.Ser43Phe		Somatic	OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1571		p.S43F	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)	1	224	+	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)	43					O43518|Q6NT51	Missense_Mutation	SNP	ENST00000281437.4	37	c.128C>T	CCDS8481.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550280	0.86127	.	.	ENSG00000043039	ENST00000281437	D	0.90955	-2.76	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.92172	0.7518	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.92759	0.6222	10	0.56958	D	0.05	.	14.9592	0.71144	0.0:1.0:0.0:0.0	.	43	Q9UMQ3	BARX2_HUMAN	F	43	ENSP00000281437:S43F	ENSP00000281437:S43F	S	+	2	0	BARX2	128751268	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.050000	0.76620	2.294000	0.77228	0.585000	0.79938	TCC		0.582	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658		56	179	0	0	0	1	0	56	179					T	129246058	C	T	129246058	3	4	48	1	0	0	0	0	1	0	0	0	1316	855	30	3	130	3	BARX2	11	129246058	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	406399	129246058	5760458	2857	7325										
PRDM10	56980	broad.mit.edu	37	chr11	129784708	129784708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtaatccccttgtggcgttCggtagtctgtcgttaaggtc	13	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:129784708C>T	ENST00000360871.3	-	17	2963	c.2732G>A	c.(2731-2733)cGa>cAa	p.R911Q	PRDM10_ENST00000528746.1_Missense_Mutation_p.R885Q|PRDM10_ENST00000423662.2_Missense_Mutation_p.R829Q|PRDM10_ENST00000358825.5_Missense_Mutation_p.R915Q|PRDM10_ENST00000304538.6_Missense_Mutation_p.R825Q|PRDM10_ENST00000526082.1_Missense_Mutation_p.R829Q	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	915	Thr-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)|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)		TTGTGGCGTTCGGTAGTCTGT	0.547																																						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.(2743-2745)cGa>cAa		PR domain containing 10							334	293	307					11																	129784708		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129784708C>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.2732G>A	11.37:g.129784708C>T	ENSP00000354118:p.Arg911Gln		Somatic				PRDM10_ENST00000304538.6_Missense_Mutation_p.R825Q|PRDM10_ENST00000360871.3_Missense_Mutation_p.R911Q|PRDM10_ENST00000528746.1_Missense_Mutation_p.R885Q|PRDM10_ENST00000526082.1_Missense_Mutation_p.R829Q|PRDM10_ENST00000423662.2_Missense_Mutation_p.R829Q	p.R915Q	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)	18	2975	-	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)	915			Thr-rich.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.2744G>A	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574935	0.86542	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.12984	2.71;2.76;2.71;2.63;2.69;2.69;2.81	5.44	5.44	0.79542	.	0.083013	0.64402	D	0.000013	T	0.28830	0.0715	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D	0.80764	0.978;0.994;0.99;0.978;0.99;0.99;0.99	T	0.01349	-1.1378	10	0.72032	D	0.01	-20.254	19.4587	0.94906	0.0:1.0:0.0:0.0	.	825;885;911;915;829;825;829	B7ZL72;E9PLV1;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	Q	915;825;911;829;885;829;628	ENSP00000351686:R915Q;ENSP00000302669:R825Q;ENSP00000354118:R911Q;ENSP00000398431:R829Q;ENSP00000431262:R885Q;ENSP00000432237:R829Q;ENSP00000435940:R628Q	ENSP00000302669:R825Q	R	-	2	0	PRDM10	129289918	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.112000	0.77086	2.828000	0.97474	0.655000	0.94253	CGA		0.547	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		96	168	0	0	0	1	0	96	168					T	129784708	C	T	129784708	3	4	48	1	0	0	0	0	1	0	0	0	12463	884	31	1	758	1	PRDM10	11	129784708	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	538650	129784708	5221808	2858	7326										
IGSF9B	22997	broad.mit.edu	37	chr11	133790722	133790722	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgctgctgaggtacccataAtactggccatggtggaaggg	14	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:133790722A>C	ENST00000321016.8	-	18	3128	c.2898T>G	c.(2896-2898)taT>taG	p.Y966*	IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.Y966*			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	966	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)				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)		GGTACCCATAATACTGGCCAT	0.721																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2896-2898)taT>taG		immunoglobulin superfamily, member 9B							11	14	13					11																	133790722		1873	4001	5874	SO:0001587	stop_gained	22997					integral to membrane|plasma membrane		g.chr11:133790722A>C	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.2898T>G	11.37:g.133790722A>C	ENSP00000317980:p.Tyr966*		Somatic				IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.Y966*	p.Y966*			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	3128	-	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)	966			Pro-rich.		G5EA26	Nonsense_Mutation	SNP	ENST00000321016.8	37	c.2898T>G		.	.	.	.	.	.	.	.	.	.	A	39	7.727500	0.98456	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	.	.	.	4.2	1.82	0.25136	.	0.000000	0.38111	N	0.001820	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9888	0.14203	0.6441:0.1607:0.1952:0.0	.	.	.	.	X	966;808	.	ENSP00000317980:Y966X	Y	-	3	2	IGSF9B	133295932	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.306000	0.33505	0.670000	0.31165	0.459000	0.35465	TAT		0.721	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		11	27	0	0	0	1	0	11	27					C	133790722	A	C	133790722	4	2	48	1	0	0	0	0	0	1	0	0	7615	108	4	4	1159	4	IGSF9B	11	133790722	Nonsense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	4006014	133790722	1215794	2859	7327										
NCAPD3	23310	broad.mit.edu	37	chr11	134073715	134073715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgctttaagaacttctgatgCtccaaggagagggtgttatc	11	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:134073715C>T	ENST00000534548.2	-	11	1366	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	434					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)		ACTTCTGATGCTCCAAGGAGA	0.468																																						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.(1300-1302)gaG>gaA		non-SMC condensin II complex, subunit D3							92	95	94					11																	134073715		2201	4297	6498	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134073715C>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.1302G>A	11.37:g.134073715C>T			Somatic					p.E434E	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)	11	1366	-	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)	434					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.1302G>A	CCDS31723.1																																																																																				0.468	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		17	80	0	0	0	1	0	17	80					T	134073715	C	T	134073715	2	4	48	1	0	0	0	0	0	0	0	1	10215	796	28	3		3	NCAPD3	11	134073715	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	282993	134073715	932801	2860	7328										
ACAD8	27034	broad.mit.edu	37	chr11	134127029	134127029	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggcagcccagctaggcttCggaggggtctacatacaaac	12	11	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:134127029C>T	ENST00000281182.4	+	3	364	c.258C>T	c.(256-258)ttC>ttT	p.F86F	ACAD8_ENST00000543332.1_Intron|ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000537423.1_Silent_p.F9F	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	86					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	AGCTAGGCTTCGGAGGGGTCT	0.547																																					GBM(65;238 1125 33403 41853 48889)	ENST00000281182.4																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(256-258)ttC>ttT		acyl-CoA dehydrogenase family, member 8							102	93	96					11																	134127029		2201	4297	6498	SO:0001819	synonymous_variant	27034				branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr11:134127029C>T	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"acyl-Coenzyme A dehydrogenase family, member 8"			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.258C>T	11.37:g.134127029C>T			Somatic				ACAD8_ENST00000543332.1_Intron|ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000537423.1_Silent_p.F9F|ACAD8_ENST00000374752.4_Intron	p.F86F	NM_014384.2	NP_055199.1	WXS	Illumina GAIIx	Phase_I	Q9UKU7	ACAD8_HUMAN		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	3	364	+	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)	86					B7Z5W4|Q6ZWP6|Q9BUS8	Silent	SNP	ENST00000281182.4	37	c.258C>T	CCDS8498.1																																																																																				0.547	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		24	62	0	0	0	1	0	24	62					T	134127029	C	T	134127029	2	4	48	1	0	0	0	0	0	0	0	1	110	883	31	1		1	ACAD8	11	134127029	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	53314	134127029	879487	2861	7329										
GLB1L3	112937	broad.mit.edu	37	chr11	134147599	134147599	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcccgccccctccaggtttaAttggtctcatctgacccctc	7	18	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:134147599A>C	ENST00000431683.2	+	3	155	c.155A>C	c.(154-156)aAt>aCt	p.N52T	GLB1L3_ENST00000389887.5_Missense_Mutation_p.N52T	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	52					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)		TCCAGGTTTAATTGGTCTCAT	0.562																																						ENST00000389887.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(154-156)aAt>aCt		galactosidase, beta 1-like 3							29	31	30					11																	134147599		2029	4212	6241	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134147599A>C		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.155A>C	11.37:g.134147599A>C	ENSP00000396615:p.Asn52Thr		Somatic				GLB1L3_ENST00000431683.2_Missense_Mutation_p.N52T	p.N52T			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)	3	2651	+	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)	52					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.155A>C	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359989	0.61403	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.97066	-4.15;-4.23	5.06	2.72	0.32119	.	.	.	.	.	D	0.93501	0.7926	N	0.08118	0	0.09310	N	1	P;B	0.43024	0.798;0.444	P;B	0.52109	0.69;0.356	D	0.87353	0.2339	9	0.72032	D	0.01	.	4.8842	0.13696	0.7454:0.0:0.0908:0.1639	.	52;52	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	T	52	ENSP00000374537:N52T;ENSP00000396615:N52T	ENSP00000374537:N52T	N	+	2	0	GLB1L3	133652809	0.404000	0.25328	0.000000	0.03702	0.013000	0.08279	2.353000	0.44089	0.493000	0.27837	0.477000	0.44152	AAT		0.562	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		4	9	0	0	0	1	0	4	9					C	134147599	A	C	134147599	3	2	48	1	0	0	0	0	1	0	0	0	6438	101	4	4	165	4	GLB1L3	11	134147599	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	20570	134147599	858917	2862	7330										
GLB1L3	112937	broad.mit.edu	37	chr11	134183838	134183838	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccatctgcatctgcaggaaTaactggatctgtcagcatca	8	12	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:134183838T>C	ENST00000431683.2	+	17	1583	c.1583T>C	c.(1582-1584)aTa>aCa	p.I528T		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	528					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)		TCTGCAGGAATAACTGGATCT	0.468																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1582-1584)aTa>aCa		galactosidase, beta 1-like 3							75	72	73					11																	134183838		1930	4133	6063	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134183838T>C		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.1583T>C	11.37:g.134183838T>C	ENSP00000396615:p.Ile528Thr		Somatic					p.I528T	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)	17	1583	+	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)	528					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.1583T>C	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	T	7.992	0.753484	0.15778	.	.	ENSG00000166105	ENST00000431683	D	0.94793	-3.52	4.78	4.78	0.61160	Galactose-binding domain-like (1);	0.724443	0.12833	N	0.435442	D	0.96867	0.8977	M	0.87758	2.905	0.09310	N	1	P	0.52061	0.95	P	0.58210	0.835	D	0.91868	0.5505	10	0.87932	D	0	.	12.2076	0.54361	0.0:0.0:0.0:1.0	.	528	Q8NCI6	GLBL3_HUMAN	T	528	ENSP00000396615:I528T	ENSP00000396615:I528T	I	+	2	0	GLB1L3	133689048	0.213000	0.23551	0.003000	0.11579	0.008000	0.06430	4.653000	0.61462	2.126000	0.65437	0.460000	0.39030	ATA		0.468	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		11	14	0	0	0	1	0	11	14					C	134183838	T	C	134183838	3	2	48	1	0	0	0	0	1	0	0	0	6438	1406	49	4	1649	4	GLB1L3	11	134183838	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	36239	134183838	822678	2863	7331										
WNK1	65125	broad.mit.edu	37	chr12	922930	922930	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaatccacagtaaaaggaaaGaagtgcattgttttggtgac	11	5	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:922930G>A	ENST00000315939.6	+	2	1525	c.882G>A	c.(880-882)aaG>aaA	p.K294K	WNK1_ENST00000447667.2_Silent_p.K294K|WNK1_ENST00000535572.1_Silent_p.K294K|WNK1_ENST00000537687.1_Silent_p.K294K|WNK1_ENST00000530271.2_Silent_p.K294K	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TAAAAGGAAAGAAGTGCATTG	0.358																																					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.(880-882)aaG>aaA		WNK lysine deficient protein kinase 1							111	104	107					12																	922930		2203	4300	6503	SO:0001819	synonymous_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:922930G>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.882G>A	12.37:g.922930G>A			Somatic				WNK1_ENST00000530271.2_Silent_p.K294K|WNK1_ENST00000447667.2_Silent_p.K294K|WNK1_ENST00000315939.6_Silent_p.K294K|WNK1_ENST00000535572.1_Silent_p.K294K	p.K294K	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)		2	1525	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		294			Protein kinase.		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	c.882G>A	CCDS8506.1																																																																																				0.358	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		4	34	0	0	0	1	0	4	34					A	922930	G	A	922930	2	1	48	1	0	0	0	0	0	0	0	1	17392	933	33	3		3	WNK1	12	922930	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08		922930	132928965	2864	7332										
WNT5B	81029	broad.mit.edu	37	chr12	1740581	1740581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagctgggctcagcttctgAcagacgccaactcctggtgg	12	14	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:1740581A>G	ENST00000397196.2	+	2	293	c.61A>G	c.(61-63)Aca>Gca	p.T21A	WNT5B_ENST00000542408.1_Missense_Mutation_p.T21A|WNT5B_ENST00000310594.3_Missense_Mutation_p.T21A|WNT5B_ENST00000537031.1_Missense_Mutation_p.T21A	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	21					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TCAGCTTCTGACAGACGCCAA	0.642																																						ENST00000397196.2																			0				skin(1)	1						c.(61-63)Aca>Gca		wingless-type MMTV integration site family, member 5B							77	73	74					12																	1740581		2203	4300	6503	SO:0001583	missense	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1740581A>G	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"Wingless-type MMTV integration sites"	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.61A>G	12.37:g.1740581A>G	ENSP00000380379:p.Thr21Ala		Somatic				WNT5B_ENST00000310594.3_Missense_Mutation_p.T21A|WNT5B_ENST00000537031.1_Missense_Mutation_p.T21A|WNT5B_ENST00000542408.1_Missense_Mutation_p.T21A	p.T21A	NM_032642.2	NP_116031.1	WXS	Illumina GAIIx	Phase_I	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		2	293	+	Ovarian(42;0.107)		21					A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	c.61A>G	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.478869	0.26511	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071;ENST00000542408	T;D;T;T;T;D;T	0.87179	-1.0;-1.67;-0.91;-0.91;-0.91;-2.22;0.03	5.38	3.38	0.38709	.	3.686850	0.00424	N	0.000060	T	0.68128	0.2967	N	0.00707	-1.245	0.25916	N	0.983179	B	0.02656	0.0	B	0.04013	0.001	T	0.61768	-0.6995	10	0.11182	T	0.66	.	10.531	0.44977	0.1256:0.0:0.8744:0.0	.	21	Q9H1J7	WNT5B_HUMAN	A	21	ENSP00000438414:T21A;ENSP00000445395:T21A;ENSP00000439312:T21A;ENSP00000308887:T21A;ENSP00000380379:T21A;ENSP00000442348:T21A;ENSP00000440600:T21A	ENSP00000308887:T21A	T	+	1	0	WNT5B	1610842	0.003000	0.15002	0.041000	0.18516	0.796000	0.44982	1.306000	0.33505	0.500000	0.27991	0.454000	0.30748	ACA		0.642	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			28	57	0	0	0	1	0	28	57					G	1740581	A	G	1740581	3	3	48	1	0	0	0	0	1	0	0	0	17407	275	10	4	63	4	WNT5B	12	1740581	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	817651	1740581	132111314	2865	7333										
CACNA2D4	93589	broad.mit.edu	37	chr12	1909191	1909191	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcccctctgtcgtaccaggaGccccagacactccactccag	8	19	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:1909191G>A	ENST00000382722.5	-	33	3311	c.2949C>T	c.(2947-2949)ggC>ggT	p.G983G	CACNA2D4_ENST00000538027.2_Silent_p.G128G|CACNA2D4_ENST00000587995.1_Silent_p.G958G|CACNA2D4_ENST00000538450.1_Silent_p.G113G|CACNA2D4_ENST00000586184.1_Silent_p.G983G|CACNA2D4_ENST00000585708.1_Silent_p.G919G|CACNA2D4_ENST00000588077.1_Silent_p.G919G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	983					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)		CGTACCAGGAGCCCCAGACAC	0.592																																					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.(2947-2949)ggC>ggT		calcium channel, voltage-dependent, alpha 2/delta subunit 4							40	48	45					12																	1909191		2095	4232	6327	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1909191G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.2949C>T	12.37:g.1909191G>A			Somatic				CACNA2D4_ENST00000585708.1_Silent_p.G919G|CACNA2D4_ENST00000538450.1_Silent_p.G113G|CACNA2D4_ENST00000538027.2_Silent_p.G128G|CACNA2D4_ENST00000588077.1_Silent_p.G919G|CACNA2D4_ENST00000587995.1_Silent_p.G958G|CACNA2D4_ENST00000586184.1_Silent_p.G983G	p.G983G	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)	33	3311	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	983					Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.2949C>T	CCDS44785.1																																																																																				0.592	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			7	16	0	0	0	1	0	7	16					A	1909191	G	A	1909191	2	1	48	1	0	0	0	0	0	0	0	1	2553	958	34	3		3	CACNA2D4	12	1909191	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	168610	1909191	131942704	2866	7334										
CACNA1C	775	broad.mit.edu	37	chr12	2676775	2676775	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggccctgttcacggcagaGatgctcctgaagatgtacag	12	11	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:2676775G>A	ENST00000347598.4	+	13	1710	c.1710G>A	c.(1708-1710)gaG>gaA	p.E570E	CACNA1C_ENST00000399621.1_Silent_p.E570E|CACNA1C_ENST00000480911.1_Silent_p.E570E|CACNA1C_ENST00000399638.1_Silent_p.E570E|CACNA1C_ENST00000402845.3_Silent_p.E570E|CACNA1C_ENST00000406454.3_Silent_p.E570E|CACNA1C_ENST00000335762.5_Silent_p.E595E|CACNA1C_ENST00000399641.1_Silent_p.E570E|CACNA1C_ENST00000399595.1_Silent_p.E570E|CACNA1C_ENST00000344100.3_Silent_p.E570E|CACNA1C_ENST00000399655.1_Silent_p.E570E|CACNA1C_ENST00000399637.1_Silent_p.E570E|CACNA1C_ENST00000399603.1_Silent_p.E570E|CACNA1C_ENST00000399644.1_Silent_p.E570E|CACNA1C_ENST00000327702.7_Silent_p.E570E|CACNA1C_ENST00000399649.1_Silent_p.E570E|CACNA1C_ENST00000399606.1_Silent_p.E570E|CACNA1C_ENST00000399597.1_Silent_p.E570E|CACNA1C_ENST00000399601.1_Silent_p.E570E|CACNA1C_ENST00000399634.1_Silent_p.E570E|CACNA1C_ENST00000399591.1_Silent_p.E570E|CACNA1C_ENST00000399629.1_Silent_p.E570E|CACNA1C_ENST00000399617.1_Silent_p.E570E	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	570					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)	TCACGGCAGAGATGCTCCTGA	0.622																																						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.(1708-1710)gaG>gaA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						28	32	31					12																	2676775		2174	4288	6462	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.chr12:2676775G>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.1710G>A	12.37:g.2676775G>A			Somatic				CACNA1C_ENST00000399603.1_Silent_p.E570E|CACNA1C_ENST00000399617.1_Silent_p.E570E|CACNA1C_ENST00000399637.1_Silent_p.E570E|CACNA1C_ENST00000406454.3_Silent_p.E570E|CACNA1C_ENST00000399606.1_Silent_p.E570E|CACNA1C_ENST00000402845.3_Silent_p.E570E|CACNA1C_ENST00000399649.1_Silent_p.E570E|CACNA1C_ENST00000335762.5_Silent_p.E595E|CACNA1C_ENST00000347598.4_Silent_p.E570E|CACNA1C_ENST00000399638.1_Silent_p.E570E|CACNA1C_ENST00000399591.1_Silent_p.E570E|CACNA1C_ENST00000399621.1_Silent_p.E570E|CACNA1C_ENST00000327702.7_Silent_p.E570E|CACNA1C_ENST00000399595.1_Silent_p.E570E|CACNA1C_ENST00000399634.1_Silent_p.E570E|CACNA1C_ENST00000344100.3_Silent_p.E570E|CACNA1C_ENST00000480911.1_Silent_p.E570E|CACNA1C_ENST00000399601.1_Silent_p.E570E|CACNA1C_ENST00000399641.1_Silent_p.E570E|CACNA1C_ENST00000399644.1_Silent_p.E570E|CACNA1C_ENST00000399629.1_Silent_p.E570E|CACNA1C_ENST00000399597.1_Silent_p.E570E	p.E570E	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	1975	+			570					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.1710G>A	CCDS44788.1																																																																																				0.622	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		4	12	0	0	0	1	0	4	12					A	2676775	G	A	2676775	2	1	48	1	0	0	0	0	0	0	0	1	2542	933	33	3		3	CACNA1C	12	2676775	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	767584	2676775	131175120	2867	7335										
CACNA1C	775	broad.mit.edu	37	chr12	2763047	2763047	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtgatgctgttcttcatctAcgcggtgatcgggatgcagg	14	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:2763047A>G	ENST00000347598.4	+	35	4265	c.4265A>G	c.(4264-4266)tAc>tGc	p.Y1422C	CACNA1C_ENST00000399621.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Y1402C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Y1399C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Y1363C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Y1396C|CACNA1C_ENST00000399655.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Y1361C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Y1394C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Y1363C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Y1391C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Y1374C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1422					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)	TTCTTCATCTACGCGGTGATC	0.627																																						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.(4120-4122)tAc>tGc		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						82	85	84					12																	2763047		2053	4216	6269	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.chr12:2763047A>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.4265A>G	12.37:g.2763047A>G	ENSP00000266376:p.Tyr1422Cys		Somatic				CACNA1C_ENST00000399603.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Y1394C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Y1361C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Y1399C|CACNA1C_ENST00000347598.4_Missense_Mutation_p.Y1422C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Y1402C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Y1363C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Y1363C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Y1396C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Y1391C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Y1374C	p.Y1374C	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)	33	4386	+			1422					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.4121A>G	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.154170	0.78114	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;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	0.98777	-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13	4.55	4.55	0.56014	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99548	0.9838	H	0.99475	4.585	0.80722	D	1	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	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.997;1.0;0.999;0.997;0.997;0.998;1.0;0.999;0.997;0.997;0.997;0.999;0.999;0.999;0.997;1.0;0.999;1.0;0.997;0.999;0.999;0.997;0.997	D	0.97549	1.0091	10	0.87932	D	0	.	14.3544	0.66727	1.0:0.0:0.0:0.0	.	65;1396;1371;1422;1374;1374;1374;1391;1402;1374;1394;1374;1334;1422;1374;1374;1374;1363;1361;1363;1363;1374;1374;1374;1374	B7Z7Z5;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;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	1399;1374;1374;1402;1374;1374;1374;1363;1374;1422;1394;1374;1396;1391;1374;1361;1374;1374;1374;1374;1374;1363;1204	ENSP00000336982:Y1399C;ENSP00000382563:Y1374C;ENSP00000382552:Y1374C;ENSP00000382547:Y1402C;ENSP00000382506:Y1374C;ENSP00000382530:Y1374C;ENSP00000382546:Y1374C;ENSP00000382500:Y1363C;ENSP00000382549:Y1374C;ENSP00000266376:Y1422C;ENSP00000382515:Y1394C;ENSP00000382510:Y1374C;ENSP00000341092:Y1396C;ENSP00000382537:Y1391C;ENSP00000329877:Y1374C;ENSP00000382557:Y1361C;ENSP00000385724:Y1374C;ENSP00000382512:Y1374C;ENSP00000382542:Y1374C;ENSP00000382526:Y1374C;ENSP00000385896:Y1374C;ENSP00000382504:Y1363C	ENSP00000323129:Y1204C	Y	+	2	0	CACNA1C	2633308	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.079000	0.94032	2.053000	0.61076	0.454000	0.30748	TAC		0.627	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		8	21	0	0	0	1	0	8	21					G	2763047	A	G	2763047	3	3	48	1	0	0	0	0	1	0	0	0	2542	391	14	4	4577	4	CACNA1C	12	2763047	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	86272	2763047	131088848	2868	7336										
TULP3	7289	broad.mit.edu	37	chr12	3018701	3018701	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttttttttaacagtgtcttCcatgaagaaatgatgaagat	7	4	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:3018701C>T	ENST00000448120.2	+	2	99	c.48C>T	c.(46-48)ttC>ttT	p.F16F	TULP3_ENST00000397132.2_Silent_p.F16F	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	16					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|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 smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			ACAGTGTCTTCCATGAAGAAA	0.358																																						ENST00000448120.2																			0				endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(46-48)ttC>ttT		tubby like protein 3							143	137	139					12																	3018701		2203	4300	6503	SO:0001819	synonymous_variant	7289				G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	g.chr12:3018701C>T	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"Intraflagellar transport homologs"	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.48C>T	12.37:g.3018701C>T			Somatic				TULP3_ENST00000397132.2_Silent_p.F16F	p.F16F	NM_003324.4	NP_003315.2	WXS	Illumina GAIIx	Phase_I	O75386	TULP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		2	99	+			16					B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Silent	SNP	ENST00000448120.2	37	c.48C>T	CCDS8519.1																																																																																				0.358	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		32	61	0	0	0	1	0	32	61					T	3018701	C	T	3018701	2	4	48	1	0	0	0	0	0	0	0	1	16790	854	30	3		3	TULP3	12	3018701	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	255654	3018701	130833194	2869	7337										
TULP3	7289	broad.mit.edu	37	chr12	3031488	3031488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcatgctccatcagtaagctCctctgttgtggaagaagatg	10	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:3031488C>T	ENST00000448120.2	+	4	365	c.314C>T	c.(313-315)tCc>tTc	p.S105F	TULP3_ENST00000397132.2_Missense_Mutation_p.S105F	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	105					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|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 smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCAGTAAGCTCCTCTGTTGTG	0.443																																						ENST00000448120.2																			0				endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(313-315)tCc>tTc		tubby like protein 3							163	147	152					12																	3031488		2203	4300	6503	SO:0001583	missense	7289				G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	g.chr12:3031488C>T	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"Intraflagellar transport homologs"	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.314C>T	12.37:g.3031488C>T	ENSP00000410051:p.Ser105Phe		Somatic				TULP3_ENST00000397132.2_Missense_Mutation_p.S105F	p.S105F	NM_003324.4	NP_003315.2	WXS	Illumina GAIIx	Phase_I	O75386	TULP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		4	365	+			105					B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	ENST00000448120.2	37	c.314C>T	CCDS8519.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406782	0.62399	.	.	ENSG00000078246	ENST00000535226;ENST00000228245;ENST00000448120;ENST00000397132	D;D	0.92699	-3.06;-3.09	5.29	5.29	0.74685	.	0.495083	0.23684	N	0.045596	D	0.94984	0.8377	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	0.97;1.0	P;D	0.87578	0.809;0.998	D	0.95087	0.8218	10	0.62326	D	0.03	-9.7591	15.6609	0.77188	0.0:1.0:0.0:0.0	.	105;105	O75386;F8WBZ9	TULP3_HUMAN;.	F	86;105;105;105	ENSP00000410051:S105F;ENSP00000380321:S105F	ENSP00000228245:S105F	S	+	2	0	TULP3	2901749	0.961000	0.32948	0.013000	0.15412	0.015000	0.08874	4.989000	0.63870	2.466000	0.83321	0.561000	0.74099	TCC		0.443	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	NM_003324		33	59	0	0	0	1	0	33	59					T	3031488	C	T	3031488	3	4	48	1	0	0	0	0	1	0	0	0	16790	855	30	3	328	3	TULP3	12	3031488	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	12787	3031488	130820407	2870	7338										
CCND2	894	broad.mit.edu	37	chr12	4398043	4398043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtacccaccgtcgatgatcGcaactggaagtgtgggagca	13	10	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:4398043G>A	ENST00000261254.3	+	4	876	c.607G>A	c.(607-609)Gca>Aca	p.A203T		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	203					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GTCGATGATCGCAACTGGAAG	0.547			T	IGL@	"NHL,CLL"																																	ENST00000261254.3				Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		"NHL,CLL"		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(607-609)Gca>Aca		cyclin D2							179	157	165					12																	4398043		2203	4300	6503	SO:0001583	missense	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4398043G>A	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"G1/S-specific cyclin D2"	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.607G>A	12.37:g.4398043G>A	ENSP00000261254:p.Ala203Thr		Somatic					p.A203T	NM_001759.3	NP_001750.1	WXS	Illumina GAIIx	Phase_I	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		4	876	+			203					A8K531|Q13955|Q5U035	Missense_Mutation	SNP	ENST00000261254.3	37	c.607G>A	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	G	36	5.664109	0.96745	.	.	ENSG00000118971	ENST00000261254	T	0.71341	-0.56	5.4	5.4	0.78164	Cyclin, C-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.87822	0.6274	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.90391	0.4395	10	0.87932	D	0	.	18.5389	0.91020	0.0:0.0:1.0:0.0	.	203	P30279	CCND2_HUMAN	T	203	ENSP00000261254:A203T	ENSP00000261254:A203T	A	+	1	0	CCND2	4268304	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	9.420000	0.97426	2.698000	0.92095	0.655000	0.94253	GCA		0.547	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		28	134	0	0	0	1	0	28	134					A	4398043	G	A	4398043	3	1	48	1	0	0	0	0	1	0	0	0	2919	1087	38	1	621	1	CCND2	12	4398043	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1366555	4398043	129453852	2871	7339										
DYRK4	8798	broad.mit.edu	37	chr12	4708218	4708218	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacttgtatgagttgatgaaGaataacaactttcaaggctt	8	5	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:4708218G>T	ENST00000540757.2	+	7	745	c.585G>T	c.(583-585)aaG>aaT	p.K195N	DYRK4_ENST00000543431.1_Missense_Mutation_p.K195N|DYRK4_ENST00000010132.5_Missense_Mutation_p.K195N	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			AGTTGATGAAGAATAACAACT	0.393																																						ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(583-585)aaG>aaT		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							149	146	147					12																	4708218		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4708218G>T	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.585G>T	12.37:g.4708218G>T	ENSP00000441755:p.Lys195Asn		Somatic				DYRK4_ENST00000543431.1_Missense_Mutation_p.K195N|DYRK4_ENST00000010132.5_Missense_Mutation_p.K195N	p.K195N	NM_003845.1	NP_003836.1	WXS	Illumina GAIIx	Phase_I	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		7	745	+			195			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.585G>T	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597182	0.66332	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.29	3.46	0.39613	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052646	0.64402	D	0.000001	T	0.73877	0.3643	M	0.64676	1.99	0.80722	D	1	D;D;P	0.58620	0.983;0.97;0.838	P;P;P	0.59595	0.76;0.86;0.803	T	0.75889	-0.3158	10	0.87932	D	0	.	9.9193	0.41455	0.2215:0.0:0.7785:0.0	.	310;195;195	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	N	310;195;195;195	ENSP00000437534:K310N;ENSP00000441755:K195N;ENSP00000010132:K195N;ENSP00000439697:K195N	ENSP00000010132:K195N	K	+	3	2	DYRK4	4578479	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.778000	0.47726	1.229000	0.43630	-0.263000	0.10527	AAG		0.393	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			26	50	1	0	4.72057e-08	1	5.51616e-08	26	50					T	4708218	G	T	4708218	3	4	48	1	0	0	0	0	1	0	0	0	4860	933	33	2	603	2	DYRK4	12	4708218	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	310175	4708218	129143677	2872	7340										
KCNA6	3742	broad.mit.edu	37	chr12	4920773	4920773	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccacatcgggcctatgcagaGaaaagaatgctcacggaggt	12	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:4920773G>T	ENST00000280684.3	+	1	2432	c.1566G>T	c.(1564-1566)gaG>gaT	p.E522D	KCNA6_ENST00000433855.1_Missense_Mutation_p.E522D|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	522					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CCTATGCAGAGAAAAGAATGC	0.567										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(1564-1566)gaG>gaT		potassium voltage-gated channel, shaker-related subfamily, member 6							52	57	56					12																	4920773		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920773G>T	X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1566G>T	12.37:g.4920773G>T	ENSP00000280684:p.Glu522Asp	HNSCC(72;0.22)	Somatic				KCNA6_ENST00000280684.3_Missense_Mutation_p.E522D	p.E522D	NM_002235.3	NP_002226.1	WXS	Illumina GAIIx	Phase_I	P17658	KCNA6_HUMAN			1	2432	+			522						Missense_Mutation	SNP	ENST00000280684.3	37	c.1566G>T	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.273658	0.01421	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97575	-4.44;-4.44	4.97	2.99	0.34606	.	0.330090	0.27932	N	0.017275	D	0.92586	0.7645	L	0.44542	1.39	0.31771	N	0.63207	B	0.06786	0.001	B	0.04013	0.001	D	0.85628	0.1268	10	0.08599	T	0.76	.	8.1814	0.31313	0.2657:0.0:0.7343:0.0	.	522	P17658	KCNA6_HUMAN	D	522	ENSP00000408321:E522D;ENSP00000280684:E522D	ENSP00000280684:E522D	E	+	3	2	KCNA6	4791034	1.000000	0.71417	0.999000	0.59377	0.575000	0.36095	3.207000	0.51106	1.323000	0.45263	0.655000	0.94253	GAG		0.567	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		33	73	1	0	1.04594e-18	1	1.41924e-18	33	73					T	4920773	G	T	4920773	3	4	48	1	0	0	0	0	1	0	0	0	8016	933	33	2	1568	2	KCNA6	12	4920773	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	212555	4920773	128931122	2873	7341										
KCNA1	3736	broad.mit.edu	37	chr12	5021796	5021796	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaactatttctaccaccgaGaaactgagggggaagagcag	11	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:5021796G>T	ENST00000382545.3	+	2	2359	c.1252G>T	c.(1252-1254)Gaa>Taa	p.E418*	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)	418					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)	CTACCACCGAGAAACTGAGGG	0.527																																						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.(1252-1254)Gaa>Taa		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						248	249	249					12																	5021796		2203	4300	6503	SO:0001587	stop_gained	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021796G>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.1252G>T	12.37:g.5021796G>T	ENSP00000371985:p.Glu418*		Somatic				KCNA1_ENST00000543874.2_Intron	p.E418*	NM_000217.2	NP_000208.2	WXS	Illumina GAIIx	Phase_I	Q09470	KCNA1_HUMAN			2	2359	+			418					A6NM83|Q3MIQ9	Nonsense_Mutation	SNP	ENST00000382545.3	37	c.1252G>T	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	47	13.500711	0.99746	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6066	0.88040	0.0:0.0:1.0:0.0	.	.	.	.	X	418	.	ENSP00000228858:E418X	E	+	1	0	KCNA1	4892057	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.657000	0.98554	2.691000	0.91804	0.655000	0.94253	GAA		0.527	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		73	170	1	0	1.93348e-29	1	2.75448e-29	73	170					T	5021796	G	T	5021796	4	4	48	1	0	0	0	0	0	1	0	0	8010	943	33	2	1254	2	KCNA1	12	5021796	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	101023	5021796	128830099	2874	7342										
KCNA5	3741	broad.mit.edu	37	chr12	5154876	5154876	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcgtctccaacttcaactaCttctaccaccgggaaacgga	6	14	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:5154876C>A	ENST00000252321.3	+	1	1792	c.1563C>A	c.(1561-1563)taC>taA	p.Y521*		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	521					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	ACTTCAACTACTTCTACCACC	0.627																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(1561-1563)taC>taA		potassium voltage-gated channel, shaker-related subfamily, member 5							84	77	80					12																	5154876		2203	4300	6503	SO:0001587	stop_gained	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154876C>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1563C>A	12.37:g.5154876C>A	ENSP00000252321:p.Tyr521*		Somatic					p.Y521*	NM_002234.3	NP_002225.2	WXS	Illumina GAIIx	Phase_I	P22460	KCNA5_HUMAN			1	1792	+			521					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Nonsense_Mutation	SNP	ENST00000252321.3	37	c.1563C>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	38	6.934726	0.97948	.	.	ENSG00000130037	ENST00000252321	.	.	.	4.94	4.03	0.46877	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4404	0.38666	0.0:0.8374:0.0:0.1626	.	.	.	.	X	521	.	ENSP00000252321:Y521X	Y	+	3	2	KCNA5	5025137	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.248000	0.32827	2.563000	0.86464	0.561000	0.74099	TAC		0.627	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		26	51	1	0	2.79863e-10	1	3.42475e-10	26	51					A	5154876	C	A	5154876	4	1	48	1	0	0	0	0	0	1	0	0	8015	576	20	5	1565	5	KCNA5	12	5154876	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	133080	5154876	128697019	2875	7343										
VWF	7450	broad.mit.edu	37	chr12	6125981	6125981	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atttcatcaaaataagaagcTgggaaactggaggagccatc	10	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:6125981T>G	ENST00000261405.5	-	29	5363	c.5109A>C	c.(5107-5109)ccA>ccC	p.P1703P		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1703	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AATAAGAAGCTGGGAAACTGG	0.522																																						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.(5107-5109)ccA>ccC		von Willebrand factor	Antihemophilic Factor(DB00025)						72	83	79					12																	6125981		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.chr12:6125981T>G		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.5109A>C	12.37:g.6125981T>G			Somatic					p.P1703P	NM_000552.3	NP_000543.2	WXS	Illumina GAIIx	Phase_I	P04275	VWF_HUMAN			29	5363	-			1703			VWFA 3; main binding site for collagens type I and III.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.5109A>C	CCDS8539.1																																																																																				0.522	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		30	102	0	0	0	1	0	30	102					G	6125981	T	G	6125981	2	3	48	1	0	0	0	0	0	0	0	1	17261	1567	55	4		4	VWF	12	6125981	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	971105	6125981	127725914	2876	7344										
PLEKHG6	55200	broad.mit.edu	37	chr12	6427545	6427545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcacaccagacagctgctgCtggaggggcctgtgcgagtg	16	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:6427545C>T	ENST00000396988.3	+	11	1464	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	PLEKHG6_ENST00000449001.2_Silent_p.L380L|PLEKHG6_ENST00000304581.8_5'Flank|PLEKHG6_ENST00000536531.1_Silent_p.L412L|PLEKHG6_ENST00000011684.7_Silent_p.L412L	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	412	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						ACAGCTGCTGCTGGAGGGGCC	0.642																																						ENST00000449001.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						c.(1138-1140)Ctg>Ttg		pleckstrin homology domain containing, family G (with RhoGef domain) member 6							90	95	93					12																	6427545		2203	4300	6503	SO:0001819	synonymous_variant	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6427545C>T	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1234C>T	12.37:g.6427545C>T			Somatic				PLEKHG6_ENST00000011684.7_Silent_p.L412L|PLEKHG6_ENST00000536531.1_Silent_p.L412L|PLEKHG6_ENST00000396988.3_Silent_p.L412L	p.L380L	NM_001144857.1	NP_001138329.1	WXS	Illumina GAIIx	Phase_I	Q3KR16	PKHG6_HUMAN			10	1632	+			412					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Silent	SNP	ENST00000396988.3	37	c.1138C>T	CCDS8541.1																																																																																				0.642	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		26	39	0	0	0	1	0	26	39					T	6427545	C	T	6427545	2	4	48	1	0	0	0	0	0	0	0	1	12083	796	28	3		3	PLEKHG6	12	6427545	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	301564	6427545	127424350	2877	7345										
CHD4	1108	broad.mit.edu	37	chr12	6701195	6701195	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcattgagtgcttcaaaatTtcgagtgaggatgtacttgt	12	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:6701195T>G	ENST00000357008.2	-	20	3140	c.2977A>C	c.(2977-2979)Aat>Cat	p.N993H	CHD4_ENST00000544484.1_Missense_Mutation_p.N990H|CHD4_ENST00000544040.1_Missense_Mutation_p.N986H|CHD4_ENST00000309577.6_Missense_Mutation_p.N993H	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	993					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						GCTTCAAAATTTCGAGTGAGG	0.458																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(2977-2979)Aat>Cat		chromodomain helicase DNA binding protein 4							148	146	147					12																	6701195		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.chr12:6701195T>G	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.2977A>C	12.37:g.6701195T>G	ENSP00000349508:p.Asn993His		Somatic				CHD4_ENST00000544040.1_Missense_Mutation_p.N986H|CHD4_ENST00000544484.1_Missense_Mutation_p.N990H|CHD4_ENST00000357008.2_Missense_Mutation_p.N993H	p.N993H			WXS	Illumina GAIIx	Phase_I	Q14839	CHD4_HUMAN			20	3140	-			993					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.2977A>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.533179	0.85812	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	4.59	4.59	0.56863	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.96442	0.8839	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.983;0.996;0.996	D	0.97032	0.9751	10	0.87932	D	0	.	14.1276	0.65233	0.0:0.0:0.0:1.0	.	993;993;986	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	H	990;986;993;993;967	ENSP00000440392:N990H;ENSP00000440542:N986H;ENSP00000312419:N993H;ENSP00000349508:N993H	ENSP00000312419:N993H	N	-	1	0	CHD4	6571456	1.000000	0.71417	0.944000	0.38274	0.980000	0.70556	7.816000	0.86201	1.913000	0.55393	0.460000	0.39030	AAT		0.458	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		36	66	0	0	0	1	0	36	66					G	6701195	T	G	6701195	3	3	48	1	0	0	0	0	1	0	0	0	3329	1841	64	4	2845	4	CHD4	12	6701195	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	273650	6701195	127150700	2878	7346										
CHD4	1108	broad.mit.edu	37	chr12	6709138	6709138	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaggatctcctcaccctccGaattgtcctctttagcttcc	5	17	3	0	rs147387698		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:6709138G>T	ENST00000357008.2	-	10	1446	c.1283C>A	c.(1282-1284)tCg>tAg	p.S428*	CHD4_ENST00000544484.1_Nonsense_Mutation_p.S425*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.S421*|CHD4_ENST00000309577.6_Nonsense_Mutation_p.S428*	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	428					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						CTCACCCTCCGAATTGTCCTC	0.547																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(1282-1284)tCg>tAg		chromodomain helicase DNA binding protein 4							230	234	232					12																	6709138		2203	4300	6503	SO:0001587	stop_gained	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.chr12:6709138G>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.1283C>A	12.37:g.6709138G>T	ENSP00000349508:p.Ser428*		Somatic				CHD4_ENST00000544040.1_Nonsense_Mutation_p.S421*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.S425*|CHD4_ENST00000357008.2_Nonsense_Mutation_p.S428*	p.S428*			WXS	Illumina GAIIx	Phase_I	Q14839	CHD4_HUMAN			10	1446	-			428					Q8IXZ5	Nonsense_Mutation	SNP	ENST00000357008.2	37	c.1283C>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	37	6.249598	0.97412	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2178	10.5346	0.44996	0.0895:0.0:0.9105:0.0	.	.	.	.	X	425;421;428;428;402	.	ENSP00000312419:S428X	S	-	2	0	CHD4	6579399	1.000000	0.71417	0.948000	0.38648	0.956000	0.61745	8.881000	0.92415	2.269000	0.75478	0.563000	0.77884	TCG		0.547	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		123	183	1	0	1.30956e-91	1	1.90374e-91	123	183					T	6709138	G	T	6709138	4	4	48	1	0	0	0	0	0	1	0	0	3329	1059	37	2	4579	2	CHD4	12	6709138	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	7943	6709138	127142757	2879	7347										
EMG1	10162	broad.mit.edu	37	chr12	7084399	7084399	+	IGR	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttttactttaggtaattaaGaatccagtatcagatcactt	5	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7084399G>T	ENST00000261407.4	-	0	2268				EMG1_ENST00000261406.6_Missense_Mutation_p.K159N|LPCAT3_ENST00000535021.1_5'Flank|EMG1_ENST00000546220.1_3'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AGGTAATTAAGAATCCAGTAT	0.433																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase							90	85	86					12																	7084399		1897	4116	6013	SO:0001628	intergenic_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7084399G>T	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970		12.37:g.7084399G>T			Somatic				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				WXS	Illumina GAIIx	Phase_I	Q92979	NEP1_HUMAN			0	510	+								B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	RNA	SNP	ENST00000261407.4	37		CCDS8572.1																																																																																				0.433	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		3	21	1	0	0.004672	1	0.00483628	3	21					T	7084399	G	T	7084399	1	4	48	0	1	0	0	0	0	0	0	0	5092	933	33	2		2	EMG1	12	7084399	IGR	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	375261	7084399	126767496	2880	7348										
LPCAT3	10162	broad.mit.edu	37	chr12	7086403	7086403	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggaagaagatgtggccaaGgaaatagatggatttataca	12	4	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7086403G>A	ENST00000261407.4	-	12	1454	c.1369C>T	c.(1369-1371)Ctt>Ttt	p.L457F	LPCAT3_ENST00000535021.1_5'UTR|U47924.30_ENST00000606112.1_lincRNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	457					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						ATGTGGCCAAGGAAATAGATG	0.443																																						ENST00000261407.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						c.(1369-1371)Ctt>Ttt		lysophosphatidylcholine acyltransferase 3							88	89	89					12																	7086403		2203	4300	6503	SO:0001583	missense	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7086403G>A	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1369C>T	12.37:g.7086403G>A	ENSP00000261407:p.Leu457Phe		Somatic				U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_5'UTR	p.L457F	NM_005768.5	NP_005759.4	WXS	Illumina GAIIx	Phase_I	Q6P1A2	MBOA5_HUMAN			12	1454	-			457					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	ENST00000261407.4	37	c.1369C>T	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	G	5.891	0.348532	0.11126	.	.	ENSG00000111684	ENST00000261407	T	0.72505	-0.66	4.77	2.85	0.33270	.	0.534882	0.19418	N	0.114779	T	0.38427	0.1040	N	0.12887	0.27	0.26831	N	0.96857	P	0.39216	0.664	B	0.27500	0.08	T	0.26849	-1.0091	10	0.10902	T	0.67	-6.3451	4.2996	0.10918	0.0754:0.1268:0.4119:0.3859	.	457	Q6P1A2	MBOA5_HUMAN	F	457	ENSP00000261407:L457F	ENSP00000261407:L457F	L	-	1	0	LPCAT3	6956664	0.989000	0.36119	0.933000	0.37362	0.952000	0.60782	0.571000	0.23669	0.555000	0.29079	0.561000	0.74099	CTT		0.443	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		23	40	0	0	0	1	0	23	40					A	7086403	G	A	7086403	3	1	48	1	0	0	0	0	1	0	0	0	8921	1000	35	3	98	3	LPCAT3	12	7086403	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2004	7086403	126765492	2881	7349										
C1R	715	broad.mit.edu	37	chr12	7188438	7188438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgcgcttcgtgttccttggGatacagggtgtgggcagctg	16	8	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7188438G>A	ENST00000542285.1	-	11	1509	c.1360C>T	c.(1360-1362)Ccc>Tcc	p.P454S				P00736	C1R_HUMAN	complement component 1, r subcomponent	506					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	TGTTCCTTGGGATACAGGGTG	0.612																																						ENST00000542285.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16						c.(1360-1362)Ccc>Tcc		complement component 1, r subcomponent	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)						62	67	65					12																	7188438		2183	4294	6477	SO:0001583	missense	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7188438G>A	M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"Complement system"	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1360C>T	12.37:g.7188438G>A	ENSP00000438615:p.Pro454Ser		Somatic					p.P454S			WXS	Illumina GAIIx	Phase_I	P00736	C1R_HUMAN			11	1509	-			506					A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37	c.1360C>T		.	.	.	.	.	.	.	.	.	.	G	7.821	0.717877	0.15372	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	D	0.87412	-2.25	4.99	4.99	0.66335	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000001	T	0.73583	0.3605	.	.	.	0.30150	N	0.803123	B	0.27013	0.166	B	0.30105	0.111	T	0.62286	-0.6886	9	0.02654	T	1	.	13.2714	0.60164	0.0:0.0:0.8413:0.1586	.	506	P00736	C1R_HUMAN	S	469;454	ENSP00000438615:P454S	ENSP00000290575:P469S	P	-	1	0	C1R	7058693	1.000000	0.71417	0.994000	0.49952	0.501000	0.33797	3.361000	0.52306	2.286000	0.76751	0.591000	0.81541	CCC		0.612	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		7	56	0	0	0	1	0	7	56					A	7188438	G	A	7188438	3	1	48	1	0	0	0	0	1	0	0	0	1974	1174	41	3	605	3	C1R	12	7188438	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	102035	7188438	126663457	2882	7350										
CLSTN3	9746	broad.mit.edu	37	chr12	7302202	7302202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgggggatgacctggatcccGagcgggaaagcctgctcctg	16	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7302202G>A	ENST00000266546.6	+	14	2608	c.2158G>A	c.(2158-2160)Gag>Aag	p.E720K	CLSTN3_ENST00000537408.1_Missense_Mutation_p.E732K	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	720					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						CCTGGATCCCGAGCGGGAAAG	0.572																																						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.(2194-2196)Gag>Aag		calsyntenin 3							81	74	77					12																	7302202		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7302202G>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.2158G>A	12.37:g.7302202G>A	ENSP00000266546:p.Glu720Lys		Somatic				CLSTN3_ENST00000266546.6_Missense_Mutation_p.E720K	p.E732K			WXS	Illumina GAIIx	Phase_I	Q9BQT9	CSTN3_HUMAN			13	2732	+			720					D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.2194G>A	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601766	0.87055	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.48522	0.81;0.81	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.64080	0.2566	L	0.51422	1.61	0.80722	D	1	D;P	0.76494	0.999;0.644	D;B	0.71184	0.972;0.18	T	0.62868	-0.6763	10	0.52906	T	0.07	-31.9677	17.9509	0.89052	0.0:0.0:1.0:0.0	.	732;720	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	K	720;732	ENSP00000266546:E720K;ENSP00000440679:E732K	ENSP00000266546:E720K	E	+	1	0	CLSTN3	7193469	1.000000	0.71417	0.957000	0.39632	0.886000	0.51366	7.524000	0.81866	2.676000	0.91093	0.561000	0.74099	GAG		0.572	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		15	41	0	0	0	1	0	15	41					A	7302202	G	A	7302202	3	1	48	1	0	0	0	0	1	0	0	0	3565	1059	37	1	2212	1	CLSTN3	12	7302202	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	113764	7302202	126549693	2883	7351										
CD163L1	283316	broad.mit.edu	37	chr12	7520728	7520728	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgaactcggcaccacgtgaGaaatagaataaacagaacca	8	10	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7520728G>T	ENST00000313599.3	-	17	4195	c.4138C>A	c.(4138-4140)Ctc>Atc	p.L1380I	CD163L1_ENST00000416109.2_Missense_Mutation_p.L1390I|CD163L1_ENST00000396630.1_Missense_Mutation_p.L1380I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1380						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						CACCACGTGAGAAATAGAATA	0.408																																						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.(4138-4140)Ctc>Atc		CD163 molecule-like 1							110	108	108					12																	7520728		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7520728G>T	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.4138C>A	12.37:g.7520728G>T	ENSP00000315945:p.Leu1380Ile		Somatic				CD163L1_ENST00000396630.1_Missense_Mutation_p.L1380I|CD163L1_ENST00000416109.2_Missense_Mutation_p.L1390I	p.L1380I			WXS	Illumina GAIIx	Phase_I	Q9NR16	C163B_HUMAN			17	4195	-			1380					B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.4138C>A	CCDS8577.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.981|7.981	0.751220|0.751220	0.15778|0.15778	.|.	.|.	ENSG00000177675|ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630|ENST00000539726	T;T;T|.	0.01464|.	4.88;4.88;4.86|.	1.52|1.52	0.548|0.548	0.17208|0.17208	.|.	.|.	.|.	.|.	.|.	T|T	0.15478|0.15478	0.0373|0.0373	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;D|.	0.56521|.	0.15;0.976|.	B;P|.	0.52343|.	0.027;0.696|.	T|T	0.27297|0.27297	-1.0078|-1.0078	9|5	0.20519|.	T|.	0.43|.	.|.	4.8264|4.8264	0.13417|0.13417	0.0:0.0:0.6377:0.3623|0.0:0.0:0.6377:0.3623	.|.	1390;1380|.	E7EVK4;Q9NR16|.	.;C163B_HUMAN|.	I|Y	1380;1390;1380|35	ENSP00000315945:L1380I;ENSP00000393474:L1390I;ENSP00000379871:L1380I|.	ENSP00000315945:L1380I|.	L|S	-|-	1|2	0|0	CD163L1|CD163L1	7411995|7411995	0.008000|0.008000	0.16893|0.16893	0.003000|0.003000	0.11579|0.11579	0.055000|0.055000	0.15305|0.15305	0.983000|0.983000	0.29552|0.29552	0.170000|0.170000	0.19704|0.19704	-0.311000|-0.311000	0.09066|0.09066	CTC|TCT		0.408	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		25	64	1	0	1.04121e-07	1	1.21041e-07	25	64					T	7520728	G	T	7520728	3	4	48	1	0	0	0	0	1	0	0	0	2970	942	33	2	235	2	CD163L1	12	7520728	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	218526	7520728	126331167	2884	7352										
CD163	9332	broad.mit.edu	37	chr12	7639348	7639348	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgccccaggagccctcatgAtagatctctactctcccagc	8	16	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7639348A>C	ENST00000359156.4	-	10	2407	c.2205T>G	c.(2203-2205)taT>taG	p.Y735*	CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Nonsense_Mutation_p.Y723*|CD163_ENST00000432237.2_Nonsense_Mutation_p.Y735*|CD163_ENST00000396620.3_Nonsense_Mutation_p.Y768*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	735	SRCR 7. {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)	AGCCCTCATGATAGATCTCTA	0.512																																						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.(2203-2205)taT>taG		CD163 molecule							101	98	99					12																	7639348		2203	4300	6503	SO:0001587	stop_gained	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639348A>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.2205T>G	12.37:g.7639348A>C	ENSP00000352071:p.Tyr735*		Somatic				CD163_ENST00000432237.2_Nonsense_Mutation_p.Y735*|CD163_ENST00000396620.3_Nonsense_Mutation_p.Y768*|CD163_ENST00000541972.1_Nonsense_Mutation_p.Y723*	p.Y735*	NM_004244.5	NP_004235.4	WXS	Illumina GAIIx	Phase_I	Q86VB7	C163A_HUMAN			10	2407	-			735			SRCR 7.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Nonsense_Mutation	SNP	ENST00000359156.4	37	c.2205T>G	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.519131	0.85495	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	.	.	.	5.54	-6.92	0.01644	.	0.182772	0.38492	N	0.001674	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	19.3133	0.94199	0.2115:0.0:0.7885:0.0	.	.	.	.	X	735;723;768;735	.	ENSP00000352071:Y735X	Y	-	3	2	CD163	7530615	0.000000	0.05858	0.002000	0.10522	0.338000	0.28826	-2.932000	0.00688	-1.416000	0.02019	-0.256000	0.11100	TAT		0.512	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		41	104	0	0	0	1	0	41	104					C	7639348	A	C	7639348	4	2	48	1	0	0	0	0	0	1	0	0	2969	340	12	4	1293	4	CD163	12	7639348	Nonsense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	118620	7639348	126212547	2885	7353										
CD163	9332	broad.mit.edu	37	chr12	7649418	7649418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttaacttaccagaacatgTcacgccagcatcttcattgt	5	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7649418T>C	ENST00000359156.4	-	5	1292	c.1090A>G	c.(1090-1092)Aca>Gca	p.T364A	CD163_ENST00000541972.1_Missense_Mutation_p.T352A|CD163_ENST00000432237.2_Missense_Mutation_p.T364A|CD163_ENST00000396620.3_Missense_Mutation_p.T364A	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	364	SRCR 3. {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)	CCAGAACATGTCACGCCAGCA	0.423																																						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.(1090-1092)Aca>Gca		CD163 molecule							97	77	84					12																	7649418		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7649418T>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.1090A>G	12.37:g.7649418T>C	ENSP00000352071:p.Thr364Ala		Somatic				CD163_ENST00000432237.2_Missense_Mutation_p.T364A|CD163_ENST00000396620.3_Missense_Mutation_p.T364A|CD163_ENST00000541972.1_Missense_Mutation_p.T352A	p.T364A	NM_004244.5	NP_004235.4	WXS	Illumina GAIIx	Phase_I	Q86VB7	C163A_HUMAN			5	1292	-			364			SRCR 3.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1090A>G	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	T	11.00	1.509424	0.27036	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.14	2.61	0.31194	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.795125	0.11587	N	0.549171	T	0.32041	0.0816	L	0.47716	1.5	0.09310	N	1	P;B;P	0.40000	0.698;0.082;0.515	B;B;B	0.40982	0.345;0.085;0.197	T	0.20571	-1.0271	10	0.72032	D	0.01	.	6.2316	0.20738	0.0:0.0875:0.161:0.7515	.	364;364;364	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	A	364;352;364;364	ENSP00000352071:T364A;ENSP00000444071:T352A;ENSP00000379863:T364A;ENSP00000403885:T364A	ENSP00000352071:T364A	T	-	1	0	CD163	7540685	0.000000	0.05858	0.477000	0.27303	0.626000	0.37791	0.728000	0.26013	0.909000	0.36697	0.459000	0.35465	ACA		0.423	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		10	37	0	0	0	1	0	10	37					C	7649418	T	C	7649418	3	2	48	1	0	0	0	0	1	0	0	0	2969	1667	58	4	2428	4	CD163	12	7649418	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	10070	7649418	126202477	2886	7354										
APOBEC1	339	broad.mit.edu	37	chr12	7803651	7803651	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgcagctccagtgcgtacaAcatcatccacagaggtgggt	12	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7803651A>G	ENST00000229304.4	-	4	549	c.529T>C	c.(529-531)Ttg>Ctg	p.L177L		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	177					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AGTGCGTACAACATCATCCAC	0.443																																					Pancreas(135;929 1826 4531 10527 41012)	ENST00000229304.4																			0				kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(529-531)Ttg>Ctg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1							152	138	143					12																	7803651		2203	4300	6503	SO:0001819	synonymous_variant	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7803651A>G	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"Apolipoprotein B mRNA editing enzymes"	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.529T>C	12.37:g.7803651A>G			Somatic					p.L177L	NM_001644.3	NP_001635.2	WXS	Illumina GAIIx	Phase_I	P41238	ABEC1_HUMAN			4	549	-			177					Q9UE64|Q9UM71	Silent	SNP	ENST00000229304.4	37	c.529T>C	CCDS8579.1																																																																																				0.443	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		12	114	0	0	0	1	0	12	114					G	7803651	A	G	7803651	2	3	48	1	0	0	0	0	0	0	0	1	787	40	2	4		4	APOBEC1	12	7803651	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	154233	7803651	126048244	2887	7355										
GDF3	9573	broad.mit.edu	37	chr12	7842753	7842753	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgccaacccaggtcccggaaGttaatgaatagctggtgacg	12	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7842753G>T	ENST00000329913.3	-	2	863	c.816C>A	c.(814-816)aaC>aaA	p.N272K		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	272					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGTCCCGGAAGTTAATGAATA	0.532																																						ENST00000329913.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(814-816)aaC>aaA		growth differentiation factor 3							73	71	71					12																	7842753		2203	4300	6503	SO:0001583	missense	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7842753G>T	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"Endogenous ligands"	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.816C>A	12.37:g.7842753G>T	ENSP00000331745:p.Asn272Lys		Somatic					p.N272K	NM_020634.1	NP_065685.1	WXS	Illumina GAIIx	Phase_I	Q9NR23	GDF3_HUMAN			2	863	-			272					Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	c.816C>A	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186202	0.38609	.	.	ENSG00000184344	ENST00000329913	T	0.76839	-1.05	4.61	3.72	0.42706	Transforming growth factor-beta, C-terminal (3);	0.244803	0.48767	D	0.000172	T	0.68201	0.2975	L	0.38175	1.15	0.44677	D	0.997667	B	0.19445	0.036	B	0.23419	0.046	T	0.64909	-0.6296	10	0.51188	T	0.08	.	10.5421	0.45039	0.0957:0.0:0.9043:0.0	.	272	Q9NR23	GDF3_HUMAN	K	272	ENSP00000331745:N272K	ENSP00000331745:N272K	N	-	3	2	GDF3	7734020	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.089000	0.41672	1.077000	0.40990	0.561000	0.74099	AAC		0.532	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			32	58	1	0	1.61788e-16	1	2.15322e-16	32	58					T	7842753	G	T	7842753	3	4	48	1	0	0	0	0	1	0	0	0	6323	1020	36	5	282	5	GDF3	12	7842753	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	39102	7842753	126009142	2888	7356										
CLEC4A	50856	broad.mit.edu	37	chr12	8276482	8276482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctcttcccattatgacttCggaaatcacttatgctgaag	6	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:8276482C>T	ENST00000229332.5	+	1	255	c.8C>T	c.(7-9)tCg>tTg	p.S3L	CLEC4A_ENST00000352620.3_Missense_Mutation_p.S3L|CLEC4A_ENST00000345999.3_Missense_Mutation_p.S3L|CLEC4A_ENST00000360500.3_Missense_Mutation_p.S3L	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	3					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		ATTATGACTTCGGAAATCACT	0.378																																						ENST00000229332.5																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(7-9)tCg>tTg		C-type lectin domain family 4, member A							73	65	68					12																	8276482		2203	4300	6503	SO:0001583	missense	50856				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:8276482C>T	AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"C-type lectin domain containing"	13257	protein-coding gene	gene with protein product		605306	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.8C>T	12.37:g.8276482C>T	ENSP00000229332:p.Ser3Leu		Somatic				CLEC4A_ENST00000360500.3_Missense_Mutation_p.S3L|CLEC4A_ENST00000352620.3_Missense_Mutation_p.S3L|CLEC4A_ENST00000345999.3_Missense_Mutation_p.S3L	p.S3L	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	WXS	Illumina GAIIx	Phase_I	Q9UMR7	CLC4A_HUMAN		Kidney(36;0.0915)	1	255	+			3					Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	ENST00000229332.5	37	c.8C>T	CCDS8590.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705403	0.30232	.	.	ENSG00000111729	ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	T;T;T;T	0.01203	5.36;5.44;5.18;5.31	4.31	0.418	0.16429	.	.	.	.	.	T	0.01029	0.0034	L	0.42686	1.345	0.09310	N	1	P;B;P;P	0.46912	0.69;0.119;0.886;0.564	B;B;B;B	0.33750	0.099;0.013;0.169;0.046	T	0.52845	-0.8521	9	0.40728	T	0.16	.	6.8584	0.24054	0.0:0.6052:0.0:0.3948	.	3;3;3;3	Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.;.;.;CLC4A_HUMAN	L	3	ENSP00000229332:S3L;ENSP00000344646:S3L;ENSP00000247243:S3L;ENSP00000353690:S3L	ENSP00000229332:S3L	S	+	2	0	CLEC4A	8167749	0.173000	0.23056	0.000000	0.03702	0.165000	0.22458	0.274000	0.18680	0.066000	0.16515	-0.145000	0.13849	TCG		0.378	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450		17	23	0	0	0	1	0	17	23					T	8276482	C	T	8276482	3	4	48	1	0	0	0	0	1	0	0	0	3514	893	31	1	10	1	CLEC4A	12	8276482	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	433729	8276482	125575413	2889	7357										
ZNF705A	440077	broad.mit.edu	37	chr12	8329731	8329731	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagcaaacagtgtggaaaatCtcttcgtaatcttttctccc	6	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:8329731C>A	ENST00000359286.4	+	5	544	c.455C>A	c.(454-456)tCt>tAt	p.S152Y		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	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)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		TGTGGAAAATCTCTTCGTAAT	0.358																																						ENST00000359286.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18						c.(454-456)tCt>tAt		zinc finger protein 705A							152	161	158					12																	8329731		2203	4300	6503	SO:0001583	missense	440077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:8329731C>A	AK131339	CCDS31737.1	12p13.31	2014-02-12	2005-09-22		ENSG00000196946	ENSG00000196946		"Zinc fingers, C2H2-type", "-"	32281	protein-coding gene	gene with protein product							Standard	NM_001004328		Approved	FLJ16353	uc001qud.1	Q6ZN79	OTTHUMG00000168635	ENST00000359286.4:c.455C>A	12.37:g.8329731C>A	ENSP00000352233:p.Ser152Tyr		Somatic					p.S152Y	NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	WXS	Illumina GAIIx	Phase_I	Q6ZN79	Z705A_HUMAN		Kidney(36;0.0877)	5	544	+			152						Missense_Mutation	SNP	ENST00000359286.4	37	c.455C>A	CCDS31737.1	.	.	.	.	.	.	.	.	.	.	.	3.739	-0.053893	0.07362	.	.	ENSG00000196946	ENST00000396570;ENST00000359286	T;T	0.08193	3.12;3.12	1.35	1.35	0.21983	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09992	0.0245	M	0.71871	2.18	0.09310	N	1	P	0.46064	0.872	B	0.39531	0.302	T	0.24154	-1.0168	9	0.72032	D	0.01	.	5.5258	0.16957	0.0:0.6441:0.3558:0.0	.	152	Q6ZN79	Z705A_HUMAN	Y	152	ENSP00000379816:S152Y;ENSP00000352233:S152Y	ENSP00000352233:S152Y	S	+	2	0	ZNF705A	8220998	0.000000	0.05858	0.003000	0.11579	0.027000	0.11550	0.087000	0.14958	1.078000	0.41014	0.400000	0.26472	TCT		0.358	ZNF705A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400449.1	NM_001004328		13	170	1	0	0.000151284	1	0.00016287	13	170					A	8329731	C	A	8329731	3	1	48	1	0	0	0	0	1	0	0	0	18123	913	32	2	473	2	ZNF705A	12	8329731	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	53249	8329731	125522164	2890	7358										
CLEC4D	338339	broad.mit.edu	37	chr12	8667888	8667888	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttattgctgtagttttcatcTtacttctcagtgtctgtttt	6	7	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:8667888T>G	ENST00000299665.2	+	2	278	c.85T>G	c.(85-87)Tta>Gta	p.L29V		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	29					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					AGTTTTCATCTTACTTCTCAG	0.373																																						ENST00000299665.2																			0				large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(85-87)Tta>Gta		C-type lectin domain family 4, member D							244	206	219					12																	8667888		2203	4300	6503	SO:0001583	missense	338339				innate immune response	integral to membrane	sugar binding	g.chr12:8667888T>G	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"C-type lectin domain containing"	14554	protein-coding gene	gene with protein product		609964	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.85T>G	12.37:g.8667888T>G	ENSP00000299665:p.Leu29Val		Somatic					p.L29V	NM_080387.4	NP_525126.2	WXS	Illumina GAIIx	Phase_I	Q8WXI8	CLC4D_HUMAN			2	278	+	Lung SC(5;0.184)		29					Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	37	c.85T>G	CCDS8593.1	.	.	.	.	.	.	.	.	.	.	T	0.038	-1.296658	0.01364	.	.	ENSG00000166527	ENST00000382064;ENST00000299665	T;T	0.05786	3.39;3.71	3.36	0.923	0.19413	.	.	.	.	.	T	0.06050	0.0157	L	0.50333	1.59	0.09310	N	1	B	0.16166	0.016	B	0.14023	0.01	T	0.39231	-0.9624	9	0.34782	T	0.22	.	3.626	0.08113	0.0:0.1233:0.2274:0.6494	.	29	Q8WXI8	CLC4D_HUMAN	V	29	ENSP00000371496:L29V;ENSP00000299665:L29V	ENSP00000299665:L29V	L	+	1	2	CLEC4D	8559155	0.001000	0.12720	0.014000	0.15608	0.002000	0.02628	-0.211000	0.09332	0.174000	0.19809	-0.517000	0.04412	TTA		0.373	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		4	58	0	0	0	1	0	4	58					G	8667888	T	G	8667888	3	3	48	1	0	0	0	0	1	0	0	0	3516	1606	56	4	91	4	CLEC4D	12	8667888	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	338157	8667888	125184007	2891	7359										
A2ML1	144568	broad.mit.edu	37	chr12	8995860	8995860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggcatccaccggctaaacgGccccttgaaatgtggccagc	11	14	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:8995860G>A	ENST00000299698.7	+	12	1559	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	A2ML1_ENST00000539547.1_5'Flank	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CGGCTAAACGGCCCCTTGAAA	0.552																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(1378-1380)gGc>gAc		alpha-2-macroglobulin-like 1							77	79	78					12																	8995860		1979	4161	6140	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8995860G>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1379G>A	12.37:g.8995860G>A	ENSP00000299698:p.Gly460Asp		Somatic					p.G460D	NM_144670.4	NP_653271.2	WXS	Illumina GAIIx	Phase_I	B3KVV6	B3KVV6_HUMAN			12	1559	+			304						Missense_Mutation	SNP	ENST00000299698.7	37	c.1379G>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	4.505	0.093618	0.08632	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459	T;T	0.62105	0.05;0.05	4.24	2.19	0.27852	Alpha-2-macroglobulin, N-terminal 2 (1);	0.522689	0.16472	N	0.212904	T	0.51210	0.1661	L	0.48362	1.52	0.09310	N	1	B	0.15719	0.014	B	0.24006	0.05	T	0.43572	-0.9383	10	0.40728	T	0.16	.	6.2912	0.21061	0.4138:0.0:0.5862:0.0	.	460	A8K2U0	A2ML1_HUMAN	D	460;460;10	ENSP00000299698:G460D;ENSP00000443174:G10D	ENSP00000299698:G460D	G	+	2	0	A2ML1	8887127	0.000000	0.05858	0.001000	0.08648	0.082000	0.17680	-0.071000	0.11505	0.623000	0.30267	0.561000	0.74099	GGC		0.552	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		38	71	0	0	0	1	0	38	71					A	8995860	G	A	8995860	3	1	48	1	0	0	0	0	1	0	0	0	5	1203	42	3	1425	3	A2ML1	12	8995860	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	327972	8995860	124856035	2892	7360										
A2M	2	broad.mit.edu	37	chr12	9220799	9220799	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttgctgcaaggagcattgTactcagcaattgcaaactca	8	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:9220799T>C	ENST00000318602.7	-	35	4695	c.4388A>G	c.(4387-4389)tAc>tGc	p.Y1463C	A2M-AS1_ENST00000499762.1_RNA	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1463					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	AGGAGCATTGTACTCAGCAAT	0.428																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(4387-4389)tAc>tGc		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						68	68	68					12																	9220799		1949	4147	6096	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9220799T>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.4388A>G	12.37:g.9220799T>C	ENSP00000323929:p.Tyr1463Cys		Somatic					p.Y1463C	NM_000014.4	NP_000005.2	WXS	Illumina GAIIx	Phase_I	P01023	A2MG_HUMAN			35	4695	-			1463					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.4388A>G	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.599218	0.66332	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.61274	0.12	4.39	4.39	0.52855	Alpha-macroglobulin, receptor-binding (3);	0.155271	0.43110	D	0.000608	D	0.82467	0.5043	H	0.96365	3.81	0.47511	D	0.999447	D	0.89917	1.0	D	0.97110	1.0	D	0.87821	0.2638	10	0.87932	D	0	.	13.4385	0.61099	0.0:0.0:0.0:1.0	.	1463	P01023	A2MG_HUMAN	C	1463;1478	ENSP00000323929:Y1463C	ENSP00000323929:Y1463C	Y	-	2	0	A2M	9112066	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	4.876000	0.63079	2.205000	0.71048	0.533000	0.62120	TAC		0.428	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		8	11	0	0	0	1	0	8	11					C	9220799	T	C	9220799	3	2	48	1	0	0	0	0	1	0	0	0	4	1638	57	4	44	4	A2M	12	9220799	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	224939	9220799	124631096	2893	7361										
CLEC12A	160364	broad.mit.edu	37	chr12	10124262	10124262	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgagatggaaaaaatcccaGaaattggcaaatttggggaa	12	4	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:10124262G>T	ENST00000304361.4	+	1	249	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	CLEC12A_ENST00000434319.2_Nonsense_Mutation_p.E23*|CLEC12A_ENST00000355690.4_Nonsense_Mutation_p.E33*|CLEC12A_ENST00000350667.4_Nonsense_Mutation_p.E23*	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						AAAAATCCCAGAAATTGGCAA	0.323																																					Melanoma(197;1487 2125 16611 22221 34855)	ENST00000304361.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						c.(67-69)Gaa>Taa		C-type lectin domain family 12, member A							93	101	98					12																	10124262		2203	4300	6503	SO:0001587	stop_gained	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10124262G>T	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"C-type lectin domain containing"	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.67G>T	12.37:g.10124262G>T	ENSP00000302804:p.Glu23*		Somatic				CLEC12A_ENST00000355690.4_Nonsense_Mutation_p.E33*|CLEC12A_ENST00000434319.2_Nonsense_Mutation_p.E23*|CLEC12A_ENST00000350667.4_Nonsense_Mutation_p.E23*	p.E23*	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	WXS	Illumina GAIIx	Phase_I	Q5QGZ9	CL12A_HUMAN			1	249	+			23					B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Nonsense_Mutation	SNP	ENST00000304361.4	37	c.67G>T	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801669	0.50315	.	.	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319;ENST00000350667	.	.	.	4.12	-1.28	0.09318	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	4.2358	0.10625	0.4339:0.1713:0.3948:0.0	.	.	.	.	X	33;23;23;23;23	.	ENSP00000302804:E23X	E	+	1	0	CLEC12A	10015529	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.025000	0.13577	-0.238000	0.09724	-0.150000	0.13652	GAA		0.323	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		15	26	1	0	2.23348e-06	1	2.50077e-06	15	26					T	10124262	G	T	10124262	4	4	48	1	0	0	0	0	0	1	0	0	3499	943	33	2	69	2	CLEC12A	12	10124262	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	903463	10124262	123727633	2894	7362										
C12orf59	120939	broad.mit.edu	37	chr12	10332194	10332194	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgggagtccgagttcatgtCgtggcggcctcagccctgct	14	12	2	0	rs535551759		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:10332194C>T	ENST00000381923.2	+	2	425	c.21C>T	c.(19-21)gtC>gtT	p.V7V	TMEM52B_ENST00000536952.1_Silent_p.V7V|TMEM52B_ENST00000298530.3_Missense_Mutation_p.S2L			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	7						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S2L(1)									GAGTTCATGTCGTGGCGGCCT	0.478													C|||	1	0.000199681	0	0	5008	,	,		17909	0		0	False		,,,				2504	0.001					ENST00000298530.3																			1	Substitution - Missense(1)	p.S2L(1)	large_intestine(1)								c.(4-6)tCg>tTg		transmembrane protein 52B							187	176	179					12																	10332194		2203	4300	6503	SO:0001819	synonymous_variant	120939							g.chr12:10332194C>T	AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 59"	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.21C>T	12.37:g.10332194C>T			Somatic				TMEM52B_ENST00000381923.2_Silent_p.V7V|TMEM52B_ENST00000536952.1_Silent_p.V7V	p.S2L	NM_153022.2	NP_694567.1	WXS	Illumina GAIIx	Phase_I					1	583	+								Q96NA7	Missense_Mutation	SNP	ENST00000381923.2	37	c.5C>T		.	.	.	.	.	.	.	.	.	.	C	13.43	2.234019	0.39498	.	.	ENSG00000165685	ENST00000298530	.	.	.	5.13	-3.3	0.05003	.	.	.	.	.	T	0.23289	0.0563	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30851	-0.9964	7	0.87932	D	0	-1.0273	0.3384	0.00329	0.2688:0.2308:0.1405:0.3599	.	2	Q4KMG9-2	.	L	2	.	ENSP00000298530:S2L	S	+	2	0	C12orf59	10223461	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.674000	0.05233	-0.464000	0.06963	0.650000	0.86243	TCG		0.478	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000399645.1	NM_153022		57	151	0	0	0	1	0	57	151					T	10332194	C	T	10332194	2	4	48	1	0	0	0	0	0	0	0	1	1704	893	31	1		1	C12orf59	12	10332194	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	207932	10332194	123519701	2895	7363										
KLRC3	3823	broad.mit.edu	37	chr12	10569349	10569349	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaatccatgaggaaggtaaAatgctggccagaaatttcta	9	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:10569349A>C	ENST00000396439.2	-	5	548	c.504T>G	c.(502-504)atT>atG	p.I168M	KLRC3_ENST00000381904.2_Missense_Mutation_p.I168M|KLRC3_ENST00000381903.2_Missense_Mutation_p.I168M|NKG2-E_ENST00000539033.1_Missense_Mutation_p.I168M	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	168	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						AGGAAGGTAAAATGCTGGCCA	0.299																																						ENST00000396439.2																			0				large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(502-504)atT>atG		killer cell lectin-like receptor subfamily C, member 3							50	47	48					12																	10569349		2202	4279	6481	SO:0001583	missense	3823							g.chr12:10569349A>C	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"Killer cell lectin-like receptors"	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.504T>G	12.37:g.10569349A>C	ENSP00000379716:p.Ile168Met		Somatic				NKG2-E_ENST00000539033.1_Missense_Mutation_p.I168M|KLRC3_ENST00000381903.2_Missense_Mutation_p.I168M|KLRC3_ENST00000381904.2_Missense_Mutation_p.I168M	p.I168M	NM_002261.2	NP_002252.2	WXS	Illumina GAIIx	Phase_I					5	548	-								Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	c.504T>G	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.680125	0.29783	.	.	ENSG00000255641;ENSG00000205810;ENSG00000205810;ENSG00000205810	ENST00000539033;ENST00000396439;ENST00000381904;ENST00000381903	T;T;T;T	0.06608	3.28;3.28;3.28;3.28	3.18	-5.21	0.02815	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.651210	0.04247	N	0.338011	T	0.13841	0.0335	L	0.53249	1.67	0.09310	N	1	P;P;P	0.43578	0.646;0.572;0.811	P;P;D	0.66351	0.739;0.798;0.943	T	0.37979	-0.9682	10	0.41790	T	0.15	.	0.2471	0.00200	0.3322:0.257:0.1497:0.2611	.	168;168;168	Q07444-2;F5H6K3;Q07444	.;.;NKG2E_HUMAN	M	168	ENSP00000437563:I168M;ENSP00000379716:I168M;ENSP00000371329:I168M;ENSP00000371328:I168M	ENSP00000371328:I168M	I	-	3	3	KLRC3;RP11-277P12.6	10460616	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.632000	0.05489	-1.108000	0.03000	-1.017000	0.02453	ATT		0.299	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261		4	25	0	0	0	1	0	4	25					C	10569349	A	C	10569349	3	2	48	1	0	0	0	0	1	0	0	0	8426	10	1	4	326	4	KLRC3	12	10569349	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	237155	10569349	123282546	2896	7364										
TAS2R8	50836	broad.mit.edu	37	chr12	10959316	10959316	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagtagttggcaaatgtccaGaaggtaaaaatgactatctg	10	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:10959316G>A	ENST00000240615.2	-	1	576	c.264C>T	c.(262-264)ttC>ttT	p.F88F		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	88					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAAATGTCCAGAAGGTAAAAA	0.348																																						ENST00000240615.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(262-264)ttC>ttT		taste receptor, type 2, member 8							96	95	95					12																	10959316		2203	4300	6503	SO:0001819	synonymous_variant	50836				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10959316G>A	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.264C>T	12.37:g.10959316G>A			Somatic					p.F88F	NM_023918.1	NP_076407.1	WXS	Illumina GAIIx	Phase_I	Q9NYW2	TA2R8_HUMAN			1	576	-			88					Q4KN29|Q645Y2	Silent	SNP	ENST00000240615.2	37	c.264C>T	CCDS8632.1																																																																																				0.348	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			36	41	0	0	0	1	0	36	41					A	10959316	G	A	10959316	2	1	48	1	0	0	0	0	0	0	0	1	15602	933	33	3		3	TAS2R8	12	10959316	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	389967	10959316	122892579	2897	7365										
TAS2R50	259296	broad.mit.edu	37	chr12	11139431	11139431	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ataaaaccattattagaattGaaaaaaaaatgtatagaaaa	4	2	0	3	rs79147066	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:11139431G>T	ENST00000506868.1	-	1	80	c.29C>A	c.(28-30)tCa>tAa	p.S10*	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	10					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.S10fs*25(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TATTAGAATTGAAAAAAAAAT	0.318																																						ENST00000506868.1																			1	Insertion - Frameshift(1)	p.S10fs*25(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						c.(28-30)tCa>tAa		taste receptor, type 2, member 50							29	34	32					12																	11139431		2175	4278	6453	SO:0001587	stop_gained	259296				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11139431G>T	AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.29C>A	12.37:g.11139431G>T	ENSP00000424040:p.Ser10*		Somatic				TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.S10*	NM_176890.2	NP_795371.2	WXS	Illumina GAIIx	Phase_I	P59544	T2R50_HUMAN			1	80	-			10					P59545|Q2M255|Q645Y0	Nonsense_Mutation	SNP	ENST00000506868.1	37	c.29C>A	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300393	0.40694	.	.	ENSG00000212126	ENST00000506868	.	.	.	2.49	0.116	0.14647	.	2.779400	0.01813	U	0.033566	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.3228	0.04215	0.3362:0.3037:0.36:0.0	.	.	.	.	X	10	.	ENSP00000424040:S10X	S	-	2	0	TAS2R50	11030698	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	-0.568000	0.05909	0.214000	0.20742	0.313000	0.20887	TCA		0.318	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		16	42	1	0	4.7546e-09	1	5.67505e-09	16	42					T	11139431	G	T	11139431	4	4	48	1	0	0	0	0	0	1	0	0	15599	1294	45	2	874	2	TAS2R50	12	11139431	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	180115	11139431	122712464	2898	7366										
TAS2R20	259295	broad.mit.edu	37	chr12	11150374	11150374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttttgtctcttgacccagGcaatgaaatttatcagtgct	7	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:11150374G>A	ENST00000538986.1	-	1	100	c.101C>T	c.(100-102)gCc>gTc	p.A34V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	34					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CTTGACCCAGGCAATGAAATT	0.368																																						ENST00000538986.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(100-102)gCc>gTc		taste receptor, type 2, member 20							38	42	41					12																	11150374		2203	4300	6503	SO:0001583	missense	259295				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11150374G>A	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19109	protein-coding gene	gene with protein product		613962	"taste receptor, type 2, member 49"	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.101C>T	12.37:g.11150374G>A	ENSP00000441624:p.Ala34Val		Somatic				TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.A34V	NM_176889.2	NP_795370.2	WXS	Illumina GAIIx	Phase_I	P59543	T2R20_HUMAN			1	100	-			34					P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	ENST00000538986.1	37	c.101C>T	CCDS8639.1	.	.	.	.	.	.	.	.	.	.	G	8.564	0.878390	0.17395	.	.	ENSG00000255837	ENST00000538986	T	0.00776	5.71	2.77	-1.48	0.08745	.	1.176710	0.06599	U	0.753385	T	0.01189	0.0039	L	0.36672	1.1	0.09310	N	1	P	0.42203	0.773	P	0.46885	0.53	T	0.47736	-0.9094	10	0.87932	D	0	.	6.1024	0.20055	0.0:0.1221:0.5684:0.3095	.	34	P59543	T2R20_HUMAN	V	34	ENSP00000441624:A34V	ENSP00000441624:A34V	A	-	2	0	TAS2R20	11041641	0.094000	0.21725	0.135000	0.22099	0.006000	0.05464	0.043000	0.13971	-0.429000	0.07329	-0.467000	0.05162	GCC		0.368	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		20	39	0	0	0	1	0	20	39					A	11150374	G	A	11150374	3	1	48	1	0	0	0	0	1	0	0	0	15586	1203	42	3	832	3	TAS2R20	12	11150374	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	10943	11150374	122701521	2899	7367										
ETV6	2120	broad.mit.edu	37	chr12	12038927	12038927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctactacaaactaaacattaTcaggaaggagccaggacaaa	7	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12038927T>C	ENST00000396373.4	+	7	1494	c.1220T>C	c.(1219-1221)aTc>aCc	p.I407T		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	407					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)				CTAAACATTATCAGGAAGGAG	0.423			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.(1219-1221)aTc>aCc		ets variant 6							126	124	125					12																	12038927		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.chr12:12038927T>C	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.1220T>C	12.37:g.12038927T>C	ENSP00000379658:p.Ile407Thr		Somatic					p.I407T	NM_001987.4	NP_001978.1	WXS	Illumina GAIIx	Phase_I	P41212	ETV6_HUMAN			7	1494	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	407					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.1220T>C	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.149797	0.37923	.	.	ENSG00000139083	ENST00000396373	T	0.19806	2.12	4.95	4.95	0.65309	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.52853	0.1760	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63207	-0.6689	10	0.87932	D	0	.	14.5783	0.68265	0.0:0.0:0.0:1.0	.	407	P41212	ETV6_HUMAN	T	407	ENSP00000379658:I407T	ENSP00000379658:I407T	I	+	2	0	ETV6	11930194	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	1.992000	0.58205	0.533000	0.62120	ATC		0.423	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		35	88	0	0	0	1	0	35	88					C	12038927	T	C	12038927	3	2	48	1	0	0	0	0	1	0	0	0	5285	1435	50	4	1246	4	ETV6	12	12038927	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	888553	12038927	121812968	2900	7368										
LRP6	4040	broad.mit.edu	37	chr12	12300346	12300346	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggagatctgaatcagcccaAaagagcttgcccagcctgct	10	13	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12300346A>C	ENST00000261349.4	-	15	3427	c.3351T>G	c.(3349-3351)ttT>ttG	p.F1117L	LRP6_ENST00000543091.1_Missense_Mutation_p.F1117L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1117	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AATCAGCCCAAAAGAGCTTGC	0.433																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(3349-3351)ttT>ttG		low density lipoprotein receptor-related protein 6							101	103	102					12																	12300346		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12300346A>C	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3351T>G	12.37:g.12300346A>C	ENSP00000261349:p.Phe1117Leu		Somatic				LRP6_ENST00000543091.1_Missense_Mutation_p.F1117L	p.F1117L	NM_002336.2	NP_002327.2	WXS	Illumina GAIIx	Phase_I	O75581	LRP6_HUMAN			15	3427	-		Prostate(47;0.0865)	1117			Beta-propeller 4.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.3351T>G	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.804457	0.90623	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.97016	-4.21;-4.21	5.39	-1.64	0.08318	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000011	D	0.96981	0.9014	M	0.72894	2.215	0.58432	D	0.999996	D;D	0.76494	0.992;0.999	D;D	0.70716	0.97;0.935	D	0.95485	0.8564	10	0.62326	D	0.03	.	12.6166	0.56580	0.3094:0.0:0.6906:0.0	.	1117;1117	F5H7J9;O75581	.;LRP6_HUMAN	L	1117	ENSP00000261349:F1117L;ENSP00000442472:F1117L	ENSP00000261349:F1117L	F	-	3	2	LRP6	12191613	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	1.499000	0.35671	-0.199000	0.10317	0.460000	0.39030	TTT		0.433	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			5	91	0	0	0	1	0	5	91					C	12300346	A	C	12300346	3	2	48	1	0	0	0	0	1	0	0	0	8971	11	1	4	1526	4	LRP6	12	12300346	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	261419	12300346	121551549	2901	7369										
LRP6	4040	broad.mit.edu	37	chr12	12317334	12317334	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttccagagaaattcgtctgAtatctgctctccgtgaaaac	7	10	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12317334A>C	ENST00000261349.4	-	9	2001	c.1925T>G	c.(1924-1926)aTc>aGc	p.I642S	LRP6_ENST00000543091.1_Missense_Mutation_p.I642S	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	642	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AATTCGTCTGATATCTGCTCT	0.443																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(1924-1926)aTc>aGc		low density lipoprotein receptor-related protein 6							106	104	105					12																	12317334		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12317334A>C	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1925T>G	12.37:g.12317334A>C	ENSP00000261349:p.Ile642Ser		Somatic				LRP6_ENST00000543091.1_Missense_Mutation_p.I642S	p.I642S	NM_002336.2	NP_002327.2	WXS	Illumina GAIIx	Phase_I	O75581	LRP6_HUMAN			9	2001	-		Prostate(47;0.0865)	642			Beta-propeller 3.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.1925T>G	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.530046	0.85706	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.94092	-3.35;-3.35	5.65	5.65	0.86999	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000008	D	0.97670	0.9236	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.97110	1.0;0.848	D	0.98816	1.0745	10	0.87932	D	0	.	16.1778	0.81874	1.0:0.0:0.0:0.0	.	642;642	F5H7J9;O75581	.;LRP6_HUMAN	S	642	ENSP00000261349:I642S;ENSP00000442472:I642S	ENSP00000261349:I642S	I	-	2	0	LRP6	12208601	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.248000	0.95456	2.279000	0.76181	0.533000	0.62120	ATC		0.443	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			21	45	0	0	0	1	0	21	45					C	12317334	A	C	12317334	3	2	48	1	0	0	0	0	1	0	0	0	8971	333	12	4	2976	4	LRP6	12	12317334	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	16988	12317334	121534561	2902	7370										
MANSC1	54682	broad.mit.edu	37	chr12	12491458	12491458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgggttgtctagctgtttttCgagtgtcgaagatcatcaag	12	6	3	1	rs139772377		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12491458C>T	ENST00000535902.1	-	3	823	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	MANSC1_ENST00000545735.1_Missense_Mutation_p.R6Q|MANSC1_ENST00000396349.3_Missense_Mutation_p.R53Q			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	87	MANSC. {ECO:0000255|PROSITE- ProRule:PRU00341}.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AGCTGTTTTTCGAGTGTCGAA	0.403													C|||	1	0.000199681	8e-04	0	5008	,	,		18736	0		0	False		,,,				2504	0					ENST00000535902.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23						c.(259-261)cGa>cAa		MANSC domain containing 1		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	180	175	177		260	4.8	1	12	dbSNP_134	177	0,8600		0,0,4300	no	missense	MANSC1	NM_018050.2	43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	87/432	12491458	2,13004	2203	4300	6503	SO:0001583	missense	54682					integral to membrane		g.chr12:12491458C>T	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.260G>A	12.37:g.12491458C>T	ENSP00000438205:p.Arg87Gln		Somatic				MANSC1_ENST00000396349.3_Missense_Mutation_p.R53Q|MANSC1_ENST00000545735.1_Missense_Mutation_p.R6Q	p.R87Q			WXS	Illumina GAIIx	Phase_I	Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	3	823	-		Prostate(47;0.0865)	87			MANSC.		Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	c.260G>A	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843723	0.51164	4.54E-4	0.0	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.21191	2.02;2.02;2.02	5.68	4.8	0.61643	Seven cysteines (1);Seven cysteines, N-terminal (2);	0.289012	0.18695	N	0.133755	T	0.24236	0.0587	N	0.22421	0.69	0.36791	D	0.88483	D;D;P	0.71674	0.998;0.996;0.896	P;P;B	0.58013	0.831;0.726;0.3	T	0.11641	-1.0579	10	0.23891	T	0.37	-2.0755	10.6466	0.45623	0.0:0.912:0.0:0.088	.	21;53;87	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	Q	87;53;6;6	ENSP00000438205:R87Q;ENSP00000379638:R53Q;ENSP00000445303:R6Q	ENSP00000347765:R6Q	R	-	2	0	MANSC1	12382725	0.991000	0.36638	0.989000	0.46669	0.583000	0.36354	1.408000	0.34668	1.409000	0.46915	0.563000	0.77884	CGA		0.403	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		12	77	0	0	0	1	0	12	77					T	12491458	C	T	12491458	3	4	48	1	0	0	0	0	1	0	0	0	9233	884	31	1	1043	1	MANSC1	12	12491458	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	174124	12491458	121360437	2903	7371										
DUSP16	80824	broad.mit.edu	37	chr12	12633209	12633209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttcatgatgtaggcgatagCgatggtggcggagcgggaga	18	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12633209C>T	ENST00000228862.2	-	6	1394	c.763G>A	c.(763-765)Gct>Act	p.A255T	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_Intron	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	255	Tyrosine-protein phosphatase.				dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TAGGCGATAGCGATGGTGGCG	0.458																																					Ovarian(158;443 1896 15437 36069 46477)	ENST00000228862.2																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(763-765)Gct>Act		dual specificity phosphatase 16							221	204	210					12																	12633209		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.chr12:12633209C>T	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	17909	protein-coding gene	gene with protein product	"MAPK phosphatase-7"	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.763G>A	12.37:g.12633209C>T	ENSP00000228862:p.Ala255Thr		Somatic				DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_Intron	p.A255T	NM_030640.2	NP_085143.1	WXS	Illumina GAIIx	Phase_I	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	6	1394	-		Prostate(47;0.0687)	255			Tyrosine-protein phosphatase.		Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	c.763G>A	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927483	0.92389	.	.	ENSG00000111266	ENST00000228862	T	0.61510	0.1	5.66	5.66	0.87406	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	L	0.52266	1.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70846	-0.4761	10	0.45353	T	0.12	.	19.7516	0.96271	0.0:1.0:0.0:0.0	.	255;255	Q9BY84;Q96N49	DUS16_HUMAN;.	T	255	ENSP00000228862:A255T	ENSP00000228862:A255T	A	-	1	0	DUSP16	12524476	1.000000	0.71417	0.991000	0.47740	0.820000	0.46376	5.954000	0.70298	2.656000	0.90262	0.655000	0.94253	GCT		0.458	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		45	85	0	0	0	1	0	45	85					T	12633209	C	T	12633209	3	4	48	1	0	0	0	0	1	0	0	0	4818	768	27	1	1242	1	DUSP16	12	12633209	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	141751	12633209	121218686	2904	7372										
WBP11	51729	broad.mit.edu	37	chr12	14947660	14947660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggaaggatagaaactgcccGagttggaggtctgttaaaaa	13	5	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:14947660G>A	ENST00000261167.2	-	7	765	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	178	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						GAAACTGCCCGAGTTGGAGGT	0.428																																						ENST00000261167.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(532-534)Cgg>Tgg		WW domain binding protein 11							36	42	40					12																	14947660		2199	4298	6497	SO:0001583	missense	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14947660G>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.532C>T	12.37:g.14947660G>A	ENSP00000261167:p.Arg178Trp		Somatic				WBP11_ENST00000537574.1_Missense_Mutation_p.R178W	p.R178W	NM_016312.2	NP_057396.1	WXS	Illumina GAIIx	Phase_I	Q9Y2W2	WBP11_HUMAN			7	765	-			178			Pro-rich.		Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	c.532C>T	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551112	0.45383	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	4.72	2.72	0.32119	.	0.389211	0.24126	N	0.041320	T	0.54334	0.1852	L	0.42245	1.32	0.38993	D	0.959195	D	0.63880	0.993	P	0.54590	0.756	T	0.60490	-0.7253	9	0.72032	D	0.01	-6.6992	10.1348	0.42699	0.0:0.0:0.5216:0.4783	.	178	Q9Y2W2	WBP11_HUMAN	W	178	.	ENSP00000261167:R178W	R	-	1	2	WBP11	14838927	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.029000	0.41098	1.317000	0.45149	0.655000	0.94253	CGG		0.428	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		34	46	0	0	0	1	0	34	46					A	14947660	G	A	14947660	3	1	48	1	0	0	0	0	1	0	0	0	17273	1057	37	1	1417	1	WBP11	12	14947660	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2314451	14947660	118904235	2905	7373										
RERG	85004	broad.mit.edu	37	chr12	15262170	15262170	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgacacaattcatagaatatCtctgtgatgttcccttctcc	5	12	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:15262170C>A	ENST00000256953.2	-	5	810	c.474G>T	c.(472-474)gaG>gaT	p.E158D	RERG_ENST00000536465.1_Missense_Mutation_p.E158D|RERG_ENST00000546331.1_Missense_Mutation_p.E139D|RERG_ENST00000538313.1_Missense_Mutation_p.E158D	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	158					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CATAGAATATCTCTGTGATGT	0.537																																						ENST00000256953.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(472-474)gaG>gaT		RAS-like, estrogen-regulated, growth inhibitor							140	125	130					12																	15262170		2203	4300	6503	SO:0001583	missense	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262170C>A	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.474G>T	12.37:g.15262170C>A	ENSP00000256953:p.Glu158Asp		Somatic				RERG_ENST00000546331.1_Missense_Mutation_p.E139D|RERG_ENST00000536465.1_Missense_Mutation_p.E158D|RERG_ENST00000538313.1_Missense_Mutation_p.E158D	p.E158D	NM_032918.2	NP_116307.1	WXS	Illumina GAIIx	Phase_I	Q96A58	RERG_HUMAN			5	810	-			158					B2R9R0|B4DI02	Missense_Mutation	SNP	ENST00000256953.2	37	c.474G>T	CCDS8673.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420255	0.42918	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	4.56	3.66	0.41972	Small GTP-binding protein domain (1);	0.048938	0.85682	D	0.000000	T	0.68118	0.2966	N	0.20685	0.6	0.80722	D	1	B;B	0.18461	0.028;0.014	B;B	0.31751	0.112;0.135	T	0.60172	-0.7315	10	0.15499	T	0.54	.	12.1038	0.53801	0.0:0.9101:0.0:0.0899	.	139;158	B4DI02;Q96A58	.;RERG_HUMAN	D	158;158;158;139	ENSP00000256953:E158D;ENSP00000441505:E158D;ENSP00000438280:E158D;ENSP00000444485:E139D	ENSP00000256953:E158D	E	-	3	2	RERG	15153437	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.094000	0.50227	2.526000	0.85167	0.655000	0.94253	GAG		0.537	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		46	70	1	0	3.05275e-18	1	4.13032e-18	46	70					A	15262170	C	A	15262170	3	1	48	1	0	0	0	0	1	0	0	0	13247	912	32	2	129	2	RERG	12	15262170	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	314510	15262170	118589725	2906	7374										
RERG	85004	broad.mit.edu	37	chr12	15262229	15262229	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtaaaaagcacaagccaattCtgtggccagcttctctcctt	7	12	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:15262229C>A	ENST00000256953.2	-	5	751	c.415G>T	c.(415-417)Gaa>Taa	p.E139*	RERG_ENST00000536465.1_Nonsense_Mutation_p.E139*|RERG_ENST00000546331.1_Nonsense_Mutation_p.E120*|RERG_ENST00000538313.1_Nonsense_Mutation_p.E139*	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	139					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CAAGCCAATTCTGTGGCCAGC	0.493																																						ENST00000256953.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(415-417)Gaa>Taa		RAS-like, estrogen-regulated, growth inhibitor							199	169	179					12																	15262229		2203	4300	6503	SO:0001587	stop_gained	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262229C>A	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.415G>T	12.37:g.15262229C>A	ENSP00000256953:p.Glu139*		Somatic				RERG_ENST00000546331.1_Nonsense_Mutation_p.E120*|RERG_ENST00000536465.1_Nonsense_Mutation_p.E139*|RERG_ENST00000538313.1_Nonsense_Mutation_p.E139*	p.E139*	NM_032918.2	NP_116307.1	WXS	Illumina GAIIx	Phase_I	Q96A58	RERG_HUMAN			5	751	-			139					B2R9R0|B4DI02	Nonsense_Mutation	SNP	ENST00000256953.2	37	c.415G>T	CCDS8673.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423392	0.83559	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331	.	.	.	5.08	4.18	0.49190	.	0.190873	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	12.0443	0.53471	0.0:0.9148:0.0:0.0852	.	.	.	.	X	139;139;139;120	.	ENSP00000256953:E139X	E	-	1	0	RERG	15153496	1.000000	0.71417	0.290000	0.24890	0.873000	0.50193	6.037000	0.70956	2.526000	0.85167	0.655000	0.94253	GAA		0.493	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		5	128	1	0	0.000602214	1	0.000636035	5	128					A	15262229	C	A	15262229	4	1	48	1	0	0	0	0	0	1	0	0	13247	922	32	2	188	2	RERG	12	15262229	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	59	15262229	118589666	2907	7375										
PTPRO	5800	broad.mit.edu	37	chr12	15652380	15652380	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gattttctcttcacagatttCtttaagggaaaaacagtatt	6	6	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:15652380C>A	ENST00000281171.4	+	4	843	c.513C>A	c.(511-513)ttC>ttA	p.F171L	PTPRO_ENST00000348962.2_Missense_Mutation_p.F171L|PTPRO_ENST00000543886.1_Missense_Mutation_p.F171L	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	171	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TCACAGATTTCTTTAAGGGAA	0.328																																						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.(511-513)ttC>ttA		protein tyrosine phosphatase, receptor type, O							74	76	75					12																	15652380		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15652380C>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.513C>A	12.37:g.15652380C>A	ENSP00000281171:p.Phe171Leu		Somatic				PTPRO_ENST00000348962.2_Missense_Mutation_p.F171L|PTPRO_ENST00000543886.1_Missense_Mutation_p.F171L	p.F171L	NM_030667.2	NP_109592.1	WXS	Illumina GAIIx	Phase_I	Q16827	PTPRO_HUMAN			4	843	+		Hepatocellular(102;0.244)	171			Fibronectin type-III 2.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.513C>A	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570185	0.65765	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.10382	2.99;2.88	4.99	-0.241	0.13043	.	0.000000	0.50627	D	0.000107	T	0.16128	0.0388	N	0.24115	0.695	0.80722	D	1	D;D;B	0.71674	0.998;0.997;0.001	D;D;B	0.80764	0.994;0.985;0.003	T	0.00839	-1.1545	10	0.62326	D	0.03	.	10.7647	0.46286	0.0:0.5631:0.0:0.4369	.	171;171;171	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	L	171	ENSP00000281171:F171L;ENSP00000343434:F171L	ENSP00000281171:F171L	F	+	3	2	PTPRO	15543647	0.970000	0.33590	0.997000	0.53966	0.951000	0.60555	0.175000	0.16762	0.048000	0.15891	-0.145000	0.13849	TTC		0.328	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			23	26	1	0	9.57634e-11	1	1.18295e-10	23	26					A	15652380	C	A	15652380	3	1	48	1	0	0	0	0	1	0	0	0	12824	912	32	2	527	2	PTPRO	12	15652380	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	390151	15652380	118199515	2908	7376										
PIK3C2G	5288	broad.mit.edu	37	chr12	18435082	18435082	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaagcagtatgaacaccaaGaatttctctttgtaaatcaa	5	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:18435082G>T	ENST00000266497.5	+	1	105	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	PIK3C2G_ENST00000535651.1_Nonsense_Mutation_p.E23*|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000433979.1_Nonsense_Mutation_p.E23*|PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.E23*			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	23					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.E23*(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGAACACCAAGAATTTCTCTT	0.388																																						ENST00000433979.1																			2	Substitution - Nonsense(2)	p.E23*(2)	large_intestine(2)	breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(67-69)Gaa>Taa		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							63	59	60					12																	18435082		1856	4097	5953	SO:0001587	stop_gained	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18435082G>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.67G>T	12.37:g.18435082G>T	ENSP00000266497:p.Glu23*		Somatic				PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.E23*|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000266497.5_Nonsense_Mutation_p.E23*|PIK3C2G_ENST00000535651.1_Nonsense_Mutation_p.E23*	p.E23*	NM_004570.4	NP_004561.3	WXS	Illumina GAIIx	Phase_I	O75747	P3C2G_HUMAN			2	183	+		Hepatocellular(102;0.194)	23					A1L3U0	Nonsense_Mutation	SNP	ENST00000266497.5	37	c.67G>T	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728127	0.69074	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	.	.	.	4.37	2.34	0.29019	.	0.855669	0.10069	N	0.719903	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-3.0495	11.1691	0.48560	0.0:0.4828:0.5172:0.0	.	.	.	.	X	23	.	ENSP00000266497:E23X	E	+	1	0	PIK3C2G	18326349	0.027000	0.19231	0.014000	0.15608	0.447000	0.32167	1.490000	0.35573	0.630000	0.30394	0.655000	0.94253	GAA		0.388	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		3	7	1	0	6.4e-05	1	6.95424e-05	3	7					T	18435082	G	T	18435082	4	4	48	1	0	0	0	0	0	1	0	0	11920	943	33	2	69	2	PIK3C2G	12	18435082	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2782702	18435082	115416813	2909	7377										
PLEKHA5	54477	broad.mit.edu	37	chr12	19512414	19512414	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgtaaagccagaccatgaAactcctgcaacagaaattgt	8	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:19512414A>C	ENST00000299275.6	+	22	2925	c.2919A>C	c.(2917-2919)gaA>gaC	p.E973D	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E962D|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E1139D|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E1036D|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E955D|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.E1031D|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E917D|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E731D|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E1031D	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	973					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)					CAGACCATGAAACTCCTGCAA	0.388																																					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.(3091-3093)gaA>gaC		pleckstrin homology domain containing, family A member 5							110	104	106					12																	19512414		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19512414A>C	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.2919A>C	12.37:g.19512414A>C	ENSP00000299275:p.Glu973Asp		Somatic				PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E731D|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E1036D|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E1139D|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E973D|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E962D|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E1031D|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E917D|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E955D	p.E1031D	NM_001143821.2	NP_001137293.2	WXS	Illumina GAIIx	Phase_I	Q9HAU0	PKHA5_HUMAN			24	3097	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		973					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.3093A>C	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.881057	0.33255	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96;2.96;2.96;2.96;2.96;2.96;2.96	4.75	-4.24	0.03777	.	0.958944	0.08692	N	0.907863	T	0.05273	0.0140	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B;B;B	0.21452	0.003;0.003;0.002;0.003;0.0;0.003;0.016;0.056	B;B;B;B;B;B;B;B	0.19946	0.009;0.003;0.002;0.006;0.004;0.002;0.009;0.027	T	0.39881	-0.9592	10	0.45353	T	0.12	-2.9543	1.7422	0.02955	0.2747:0.2694:0.3244:0.1316	.	1036;955;962;1134;917;1139;973;1031	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	D	1036;1031;917;1135;1139;973;731;1031;962;955;928;254	ENSP00000325155:E1036D;ENSP00000347560:E1031D;ENSP00000352104:E917D;ENSP00000404296:E1139D;ENSP00000299275:E973D;ENSP00000440611:E731D;ENSP00000439673:E1031D;ENSP00000400411:E962D;ENSP00000439837:E955D;ENSP00000440371:E928D;ENSP00000443553:E254D	ENSP00000299275:E973D	E	+	3	2	PLEKHA5	19403681	0.050000	0.20438	0.000000	0.03702	0.022000	0.10575	0.231000	0.17872	-0.854000	0.04131	0.378000	0.23410	GAA		0.388	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		7	50	0	0	0	1	0	7	50					C	19512414	A	C	19512414	3	2	48	1	0	0	0	0	1	0	0	0	12068	11	1	4	3323	4	PLEKHA5	12	19512414	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1077332	19512414	114339481	2910	7378										
PDE3A	5139	broad.mit.edu	37	chr12	20801671	20801671	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagaatcatcacgcagctgCtgcatggaatcttttcatgt	10	9	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:20801671C>A	ENST00000359062.3	+	13	2655	c.2615C>A	c.(2614-2616)gCt>gAt	p.A872D	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	872	Catalytic. {ECO:0000250}.|Poly-Ala.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CACGCAGCTGCTGCATGGAAT	0.378																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(2614-2616)gCt>gAt		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						160	151	154					12																	20801671		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20801671C>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2615C>A	12.37:g.20801671C>A	ENSP00000351957:p.Ala872Asp		Somatic				PDE3A_ENST00000544307.1_3'UTR	p.A872D	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	WXS	Illumina GAIIx	Phase_I	Q14432	PDE3A_HUMAN			13	2655	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	872			Catalytic (By similarity).|Poly-Ala.		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.2615C>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	31	5.095485	0.94197	.	.	ENSG00000172572	ENST00000359062	T	0.77750	-1.12	5.76	5.76	0.90799	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.115698	0.64402	D	0.000010	D	0.90403	0.6996	M	0.89414	3.03	0.58432	D	0.999996	D	0.76494	0.999	D	0.72625	0.978	D	0.91440	0.5173	10	0.87932	D	0	.	19.9618	0.97254	0.0:1.0:0.0:0.0	.	872	Q14432	PDE3A_HUMAN	D	872	ENSP00000351957:A872D	ENSP00000351957:A872D	A	+	2	0	PDE3A	20692938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.439000	0.80444	2.722000	0.93159	0.650000	0.86243	GCT		0.378	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			21	48	1	0	2.98393e-07	1	3.42142e-07	21	48					A	20801671	C	A	20801671	3	1	48	1	0	0	0	0	1	0	0	0	11646	797	28	5	2665	5	PDE3A	12	20801671	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1289257	20801671	113050224	2911	7379										
SLCO1B3	28234	broad.mit.edu	37	chr12	21028325	21028325	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaaagaaaaatttcactatCattgcatgtgctgaaaacaa	6	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21028325C>A	ENST00000381545.3	+	9	1103	c.884C>A	c.(883-885)tCa>tAa	p.S295*	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Nonsense_Mutation_p.S295*|LST3_ENST00000540229.1_Nonsense_Mutation_p.S295*|SLCO1B3_ENST00000553473.1_Nonsense_Mutation_p.S295*	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	295					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	ATTTCACTATCATTGCATGTG	0.313																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(883-885)tCa>tAa		solute carrier organic anion transporter family, member 1B3							77	76	76					12																	21028325		2203	4300	6503	SO:0001587	stop_gained	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028325C>A		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.884C>A	12.37:g.21028325C>A	ENSP00000370956:p.Ser295*		Somatic				SLCO1B3_ENST00000261196.2_Nonsense_Mutation_p.S295*|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Nonsense_Mutation_p.S295*|LST3_ENST00000540229.1_Nonsense_Mutation_p.S295*	p.S295*	NM_019844.3	NP_062818.1	WXS	Illumina GAIIx	Phase_I	Q9NPD5	SO1B3_HUMAN			9	1103	+	Esophageal squamous(101;0.149)		295					E7EMT8|Q5JAR4	Nonsense_Mutation	SNP	ENST00000381545.3	37	c.884C>A	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	11.94	1.789487	0.31685	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	.	.	.	3.92	0.639	0.17747	.	3.253060	0.00589	N	0.000359	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4017	0.26967	0.302:0.4026:0.2954:0.0	.	.	.	.	X	295;295;295;119;295	.	.	S	+	2	0	SLCO1B3;RP11-545J16.1	20919592	.	.	0.000000	0.03702	0.002000	0.02628	.	.	0.283000	0.22279	0.461000	0.40582	TCA		0.313	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		4	38	1	0	0.00024832	1	0.000265255	4	38					A	21028325	C	A	21028325	4	1	48	1	0	0	0	0	0	1	0	0	14739	838	29	2	910	2	SLCO1B3	12	21028325	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	226654	21028325	112823570	2912	7380										
LST-3TM12	338821	broad.mit.edu	37	chr12	21207445	21207445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagaacaaaaattactcagcGcacttgggtgaatgcccaag	9	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21207445G>A	ENST00000421593.2	+	10	1416	c.1416G>A	c.(1414-1416)gcG>gcA	p.A472A	SLCO1B7_ENST00000554957.1_Silent_p.A519A|RP11-125O5.2_ENST00000590779.1_5'Flank|LST3_ENST00000381541.3_Silent_p.A519A|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	472						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A472A(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATTACTCAGCGCACTTGGGTG	0.353																																						ENST00000381541.3																			1	Substitution - coding silent(1)	p.A472A(1)	endometrium(1)								c.(1555-1557)gcG>gcA									110	117	114					12																	21207445		2194	4300	6494	SO:0001819	synonymous_variant	0							g.chr12:21207445G>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1416G>A	12.37:g.21207445G>A			Somatic				SLCO1B7_ENST00000554957.1_Silent_p.A519A|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000421593.2_Silent_p.A472A	p.A519A			WXS	Illumina GAIIx	Phase_I					11	1622	+								Q71QF0	Silent	SNP	ENST00000421593.2	37	c.1557G>A	CCDS44843.1																																																																																				0.353	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		13	36	0	0	0	1	0	13	36					A	21207445	G	A	21207445	2	1	48	1	0	0	0	0	0	0	0	1	9075	1074	38	1		1	LST-3TM12	12	21207445	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	179120	21207445	112644450	2913	7381										
SLCO1B1	10599	broad.mit.edu	37	chr12	21294589	21294589	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaagatactgcaatggattGaaggtagaataagttttatg	10	3	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21294589G>A	ENST00000256958.2	+	2	177	c.81G>A	c.(79-81)ttG>ttA	p.L27L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	27					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)	GCAATGGATTGAAGGTAGAAT	0.279																																						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.(79-81)ttG>ttA		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						63	65	64					12																	21294589		2203	4295	6498	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.chr12:21294589G>A		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.81G>A	12.37:g.21294589G>A			Somatic					p.L27L	NM_006446.4	NP_006437.3	WXS	Illumina GAIIx	Phase_I	Q9Y6L6	SO1B1_HUMAN			2	177	+			27					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	ENST00000256958.2	37	c.81G>A	CCDS8685.1																																																																																				0.279	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		14	26	0	0	0	1	0	14	26					A	21294589	G	A	21294589	2	1	48	1	0	0	0	0	0	0	0	1	14738	1281	45	3		3	SLCO1B1	12	21294589	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	87144	21294589	112557306	2914	7382										
SLCO1A2	6579	broad.mit.edu	37	chr12	21422631	21422631	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagatgacacttcctcaaaaGaattaagatgattaaggctg	8	6	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21422631G>T	ENST00000307378.6	-	16	2584	c.1864C>A	c.(1864-1866)Ctt>Att	p.L622I	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.L622I|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.L490I|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.L490I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	622					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TTCCTCAAAAGAATTAAGATG	0.358																																						ENST00000307378.6																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1864-1866)Ctt>Att		solute carrier organic anion transporter family, member 1A2							97	96	96					12																	21422631		2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21422631G>T		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1864C>A	12.37:g.21422631G>T	ENSP00000305974:p.Leu622Ile		Somatic				SLCO1A2_ENST00000458504.1_Missense_Mutation_p.L490I|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.L490I|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.L622I	p.L622I	NM_134431.3	NP_602307.1	WXS	Illumina GAIIx	Phase_I	P46721	SO1A2_HUMAN			16	2584	-			622					Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.1864C>A	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	G	0.278	-0.988119	0.02162	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524	T;T;T;T	0.46451	1.08;1.08;0.87;0.87	4.76	2.58	0.30949	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.193090	0.43416	N	0.000567	T	0.17492	0.0420	N	0.03209	-0.39	0.32912	D	0.514691	B	0.06786	0.001	B	0.08055	0.003	T	0.18745	-1.0327	10	0.16420	T	0.52	.	9.4337	0.38626	0.0:0.0:0.5621:0.4379	.	622	P46721	SO1A2_HUMAN	I	622;622;490;490	ENSP00000305974:L622I;ENSP00000393973:L622I;ENSP00000394854:L490I;ENSP00000439401:L490I	ENSP00000305974:L622I	L	-	1	0	SLCO1A2	21313898	0.711000	0.27906	0.081000	0.20488	0.056000	0.15407	0.404000	0.20999	0.438000	0.26450	0.563000	0.77884	CTT		0.358	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		34	53	1	0	9.93527e-08	1	1.15593e-07	34	53					T	21422631	G	T	21422631	3	4	48	1	0	0	0	0	1	0	0	0	14737	942	33	2	152	2	SLCO1A2	12	21422631	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	128042	21422631	112429264	2915	7383										
SLCO1A2	6579	broad.mit.edu	37	chr12	21453329	21453329	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgacctcttctttttgtttgTcttcattttcatttttaatg	4	7	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21453329T>G	ENST00000307378.6	-	9	1583	c.863A>C	c.(862-864)gAc>gCc	p.D288A	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.D288A|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.D286A|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.D156A|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.D156A	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	288					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TTTTTGTTTGTCTTCATTTTC	0.318																																						ENST00000307378.6																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(862-864)gAc>gCc		solute carrier organic anion transporter family, member 1A2							94	96	95					12																	21453329		2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21453329T>G		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.863A>C	12.37:g.21453329T>G	ENSP00000305974:p.Asp288Ala		Somatic				SLCO1A2_ENST00000458504.1_Missense_Mutation_p.D156A|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.D156A|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.D286A|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.D288A	p.D288A	NM_134431.3	NP_602307.1	WXS	Illumina GAIIx	Phase_I	P46721	SO1A2_HUMAN			9	1583	-			288					Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.863A>C	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	T	6.188	0.402765	0.11696	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.1	5.1	0.69264	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.966960	0.01706	N	0.027425	T	0.34337	0.0894	N	0.14661	0.345	0.27435	N	0.953883	B;B;B	0.25206	0.12;0.019;0.079	B;B;B	0.32928	0.05;0.02;0.155	T	0.31752	-0.9932	10	0.15499	T	0.54	.	11.2504	0.49022	0.0:0.0744:0.0:0.9256	.	268;286;288	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	A	288;288;156;156;286	ENSP00000305974:D288A;ENSP00000393973:D288A;ENSP00000394854:D156A;ENSP00000439401:D156A;ENSP00000375088:D286A	ENSP00000305974:D288A	D	-	2	0	SLCO1A2	21344596	0.998000	0.40836	0.775000	0.31657	0.147000	0.21601	1.091000	0.30915	2.057000	0.61298	0.460000	0.39030	GAC		0.318	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		8	16	0	0	0	1	0	8	16					G	21453329	T	G	21453329	3	3	48	1	0	0	0	0	1	0	0	0	14737	1667	58	4	1181	4	SLCO1A2	12	21453329	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	30698	21453329	112398566	2916	7384										
PYROXD1	79912	broad.mit.edu	37	chr12	21615024	21615024	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtgctacaggagttacaccAaatgtagaaccttttctcca	7	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21615024A>G	ENST00000240651.9	+	9	1017	c.963A>G	c.(961-963)ccA>ccG	p.P321P	PYROXD1_ENST00000545178.1_3'UTR|PYROXD1_ENST00000538582.1_Silent_p.P250P	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	321							oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						GAGTTACACCAAATGTAGAAC	0.348																																						ENST00000538582.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						c.(748-750)ccA>ccG		pyridine nucleotide-disulphide oxidoreductase domain 1							111	100	104					12																	21615024		2203	4300	6503	SO:0001819	synonymous_variant	79912						oxidoreductase activity	g.chr12:21615024A>G	AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.963A>G	12.37:g.21615024A>G			Somatic				PYROXD1_ENST00000545178.1_3'UTR|PYROXD1_ENST00000240651.9_Silent_p.P321P	p.P250P			WXS	Illumina GAIIx	Phase_I	Q8WU10	PYRD1_HUMAN			9	1503	+			321					A6NKI6|B3KWN8|Q9H6P1	Silent	SNP	ENST00000240651.9	37	c.750A>G	CCDS31755.1																																																																																				0.348	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	NM_024854		8	31	0	0	0	1	0	8	31					G	21615024	A	G	21615024	2	3	48	1	0	0	0	0	0	0	0	1	12881	117	5	4		4	PYROXD1	12	21615024	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	161695	21615024	112236871	2917	7385										
GYS2	2998	broad.mit.edu	37	chr12	21733410	21733410	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atagttctctccccattcatCtgctgttgttttggcctttg	7	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21733410C>T	ENST00000261195.2	-	2	423	c.169G>A	c.(169-171)Gat>Aat	p.D57N		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	57					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCCCATTCATCTGCTGTTGTT	0.363																																					Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(169-171)Gat>Aat		glycogen synthase 2 (liver)							192	183	186					12																	21733410		2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21733410C>T		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.169G>A	12.37:g.21733410C>T	ENSP00000261195:p.Asp57Asn		Somatic					p.D57N	NM_021957.3	NP_068776.2	WXS	Illumina GAIIx	Phase_I	P54840	GYS2_HUMAN			2	423	-			57					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.169G>A	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901798	0.52227	.	.	ENSG00000111713	ENST00000261195	T	0.65364	-0.15	5.31	3.39	0.38822	.	0.209202	0.48767	N	0.000169	T	0.45716	0.1356	N	0.21240	0.645	0.58432	D	0.99999	B	0.02656	0.0	B	0.17722	0.019	T	0.23833	-1.0177	10	0.27082	T	0.32	-15.7034	11.0296	0.47765	0.0:0.8429:0.0:0.1571	.	57	P54840	GYS2_HUMAN	N	57	ENSP00000261195:D57N	ENSP00000261195:D57N	D	-	1	0	GYS2	21624677	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.628000	0.54259	0.723000	0.32274	0.563000	0.77884	GAT		0.363	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		25	55	0	0	0	1	0	25	55					T	21733410	C	T	21733410	3	4	48	1	0	0	0	0	1	0	0	0	6922	913	32	3	2002	3	GYS2	12	21733410	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	118386	21733410	112118485	2918	7386										
ABCC9	10060	broad.mit.edu	37	chr12	22025633	22025633	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaagagaggacttcccacaTcctacttggcccacaatcat	7	13	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:22025633T>C	ENST00000261201.4	-	16	2123	c.2124A>G	c.(2122-2124)ggA>ggG	p.G708G	ABCC9_ENST00000345162.2_Silent_p.G672G|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Silent_p.G708G	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	708	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)	ACTTCCCACATCCTACTTGGC	0.413																																						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.(2122-2124)ggA>ggG		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						239	232	234					12																	22025633		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22025633T>C	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.2124A>G	12.37:g.22025633T>C			Somatic				ABCC9_ENST00000345162.2_Silent_p.G672G|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Silent_p.G708G	p.G708G	NM_020297.2	NP_064693.2	WXS	Illumina GAIIx	Phase_I	O60706	ABCC9_HUMAN			16	2123	-			708			ABC transporter 1.		O60707	Silent	SNP	ENST00000261201.4	37	c.2124A>G	CCDS8694.1																																																																																				0.413	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		61	95	0	0	0	1	0	61	95					C	22025633	T	C	22025633	2	2	48	1	0	0	0	0	0	0	0	1	59	1422	50	4		4	ABCC9	12	22025633	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	292223	22025633	111826262	2919	7387										
ABCC9	10060	broad.mit.edu	37	chr12	22063775	22063775	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cataccagcagagctccacgGaggttaatgccagtctctat	9	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:22063775G>T	ENST00000261201.4	-	7	1148	c.1149C>A	c.(1147-1149)ctC>ctA	p.L383L	ABCC9_ENST00000345162.2_Silent_p.L383L|ABCC9_ENST00000261200.4_Silent_p.L383L	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	383	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GAGCTCCACGGAGGTTAATGC	0.408																																						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.(1147-1149)ctC>ctA		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						110	113	112					12																	22063775		2203	4299	6502	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22063775G>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1149C>A	12.37:g.22063775G>T			Somatic				ABCC9_ENST00000345162.2_Silent_p.L383L|ABCC9_ENST00000261201.4_Silent_p.L383L	p.L383L	NM_020297.2	NP_064693.2	WXS	Illumina GAIIx	Phase_I	O60706	ABCC9_HUMAN			7	1148	-			383			ABC transmembrane type-1 1.		O60707	Silent	SNP	ENST00000261201.4	37	c.1149C>A	CCDS8694.1																																																																																				0.408	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		22	53	1	0	7.87624e-14	1	1.01695e-13	22	53					T	22063775	G	T	22063775	2	4	48	1	0	0	0	0	0	0	0	1	59	1161	41	2		2	ABCC9	12	22063775	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	38142	22063775	111788120	2920	7388										
KIAA0528	9847	broad.mit.edu	37	chr12	22609946	22609946	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgaataaaaaacatgttaaTtatcccaagatacttagtta	4	6	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:22609946T>G	ENST00000333957.4	-	23	2938	c.2683A>C	c.(2683-2685)Att>Ctt	p.I895L	C2CD5_ENST00000446597.1_Missense_Mutation_p.I946L|C2CD5_ENST00000542676.1_Missense_Mutation_p.I946L|C2CD5_ENST00000536386.1_Missense_Mutation_p.I948L|C2CD5_ENST00000545552.1_Missense_Mutation_p.I949L|C2CD5_ENST00000544930.1_Missense_Mutation_p.I751L|C2CD5_ENST00000396028.2_Missense_Mutation_p.I937L	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	895					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)										AACATGTTAATTATCCCAAGA	0.323																																						ENST00000333957.4																			0											c.(2683-2685)Att>Ctt		C2 calcium-dependent domain containing 5							51	52	52					12																	22609946		2203	4300	6503	SO:0001583	missense	9847							g.chr12:22609946T>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.2683A>C	12.37:g.22609946T>G	ENSP00000334229:p.Ile895Leu		Somatic				C2CD5_ENST00000545552.1_Missense_Mutation_p.I949L|C2CD5_ENST00000542676.1_Missense_Mutation_p.I946L|C2CD5_ENST00000536386.1_Missense_Mutation_p.I948L|C2CD5_ENST00000446597.1_Missense_Mutation_p.I946L|C2CD5_ENST00000396028.2_Missense_Mutation_p.I937L|C2CD5_ENST00000544930.1_Missense_Mutation_p.I751L	p.I895L	NM_014802.1	NP_055617.1	WXS	Illumina GAIIx	Phase_I					23	2938	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.2683A>C	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.579|1.579	-0.532049|-0.532049	0.04112|0.04112	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930|ENST00000539615	T;T;T;T;T;T|.	0.62788|.	0.04;0.06;0.04;0.04;0.06;0.0|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.059932|.	0.64402|.	D|.	0.000004|.	T|.	0.48978|.	0.1530|.	N|N	0.16368|0.16368	0.405|0.405	0.51482|0.51482	D|D	0.999921|0.999921	B;B;D;D;B|.	0.62365|.	0.052;0.052;0.97;0.991;0.02|.	B;B;D;D;B|.	0.72075|.	0.086;0.039;0.913;0.976;0.007|.	T|.	0.45440|.	-0.9261|.	10|.	0.02654|.	T|.	1|.	-16.0896|-16.0896	15.0106|15.0106	0.71547|0.71547	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	948;946;751;937;895|.	F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7|.	.;.;.;.;K0528_HUMAN|.	L|Y	895;946;948;937;946;949;751|195	ENSP00000334229:I895L;ENSP00000388756:I946L;ENSP00000439392:I948L;ENSP00000379345:I937L;ENSP00000441951:I946L;ENSP00000443204:I949L|.	ENSP00000334229:I895L|.	I|X	-|-	1|3	0|2	KIAA0528|KIAA0528	22501213|22501213	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.341000|0.341000	0.28922|0.28922	7.303000|7.303000	0.78871|0.78871	2.123000|2.123000	0.65237|0.65237	0.533000|0.533000	0.62120|0.62120	ATT|TAA		0.323	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		15	26	0	0	0	1	0	15	26					G	22609946	T	G	22609946	3	3	48	1	0	0	0	0	1	0	0	0	8191	1493	52	4	331	4	KIAA0528	12	22609946	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	546171	22609946	111241949	2921	7389										
KIAA0528	9847	broad.mit.edu	37	chr12	22635604	22635604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgagtatgcacttcatattCcataaatggcaagagattac	7	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:22635604C>T	ENST00000333957.4	-	14	1879	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	C2CD5_ENST00000446597.1_Missense_Mutation_p.E542K|C2CD5_ENST00000542676.1_Missense_Mutation_p.E542K|C2CD5_ENST00000536386.1_Missense_Mutation_p.E544K|C2CD5_ENST00000545552.1_Missense_Mutation_p.E555K|C2CD5_ENST00000544930.1_Missense_Mutation_p.E357K|C2CD5_ENST00000396028.2_Missense_Mutation_p.E533K	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	542					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)										ACTTCATATTCCATAAATGGC	0.348																																						ENST00000333957.4																			0											c.(1624-1626)Gaa>Aaa		C2 calcium-dependent domain containing 5							180	170	174					12																	22635604		2202	4300	6502	SO:0001583	missense	9847							g.chr12:22635604C>T	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1624G>A	12.37:g.22635604C>T	ENSP00000334229:p.Glu542Lys		Somatic				C2CD5_ENST00000545552.1_Missense_Mutation_p.E555K|C2CD5_ENST00000542676.1_Missense_Mutation_p.E542K|C2CD5_ENST00000536386.1_Missense_Mutation_p.E544K|C2CD5_ENST00000446597.1_Missense_Mutation_p.E542K|C2CD5_ENST00000396028.2_Missense_Mutation_p.E533K|C2CD5_ENST00000544930.1_Missense_Mutation_p.E357K	p.E542K	NM_014802.1	NP_055617.1	WXS	Illumina GAIIx	Phase_I					14	1879	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.1624G>A	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379137	0.95945	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.74122	0.3675	M	0.82056	2.57	0.80722	D	1	D;D;P;D;D;P	0.69078	0.997;0.983;0.954;0.995;0.975;0.955	D;P;P;P;P;P	0.64237	0.923;0.761;0.764;0.878;0.684;0.596	T	0.77456	-0.2581	10	0.87932	D	0	-24.0624	19.6014	0.95563	0.0:1.0:0.0:0.0	.	544;542;357;544;533;542	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;.;K0528_HUMAN	K	542;542;544;533;542;555;357	ENSP00000334229:E542K;ENSP00000388756:E542K;ENSP00000439392:E544K;ENSP00000379345:E533K;ENSP00000441951:E542K;ENSP00000443204:E555K;ENSP00000445288:E357K	ENSP00000334229:E542K	E	-	1	0	KIAA0528	22526871	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.109000	0.77062	2.622000	0.88805	0.650000	0.86243	GAA		0.348	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		27	36	0	0	0	1	0	27	36					T	22635604	C	T	22635604	3	4	48	1	0	0	0	0	1	0	0	0	8191	864	30	3	1426	3	KIAA0528	12	22635604	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	25658	22635604	111216291	2922	7390										
CASC1	55259	broad.mit.edu	37	chr12	25264728	25264728	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattgtttataataacataaAaatgagagtgtctagtagga	8	2	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:25264728A>C	ENST00000320267.9	-	13	1820	c.1739T>G	c.(1738-1740)tTt>tGt	p.F580C	CASC1_ENST00000537577.1_Missense_Mutation_p.F468C|CASC1_ENST00000545133.1_Missense_Mutation_p.F521C|CASC1_ENST00000354189.5_Missense_Mutation_p.F644C|CASC1_ENST00000395990.2_Missense_Mutation_p.F540C|CASC1_ENST00000557684.1_5'Flank|CASC1_ENST00000395987.3_Missense_Mutation_p.F586C	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	580										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)			AATAACATAAAAATGAGAGTG	0.294																																						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.(1930-1932)tTt>tGt		cancer susceptibility candidate 1							52	57	55					12																	25264728		2202	4296	6498	SO:0001583	missense	55259							g.chr12:25264728A>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.1739T>G	12.37:g.25264728A>C	ENSP00000313141:p.Phe580Cys		Somatic				CASC1_ENST00000395990.2_Missense_Mutation_p.F540C|CASC1_ENST00000320267.9_Missense_Mutation_p.F580C|CASC1_ENST00000537577.1_Missense_Mutation_p.F468C|CASC1_ENST00000395987.3_Missense_Mutation_p.F586C|CASC1_ENST00000545133.1_Missense_Mutation_p.F521C	p.F644C	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	1966	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		580					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1931T>G	CCDS41762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.21|13.21	2.168883|2.168883	0.38315|0.38315	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000545133;ENST00000389246|ENST00000556006	T;T;T;T;T|.	0.48522|.	0.81;1.41;1.41;0.83;0.83|.	5.09|5.09	2.62|2.62	0.31277|0.31277	.|.	0.361225|0.361225	0.28093|0.28093	N|N	0.016638|0.016638	T|T	0.39517|0.39517	0.1081|0.1081	L|L	0.57536|0.57536	1.79|1.79	0.23430|0.23430	N|N	0.997693|0.997693	D;D;D;D;D|.	0.69078|.	0.993;0.992;0.997;0.973;0.992|.	P;P;P;P;P|.	0.58820|.	0.8;0.794;0.846;0.533;0.794|.	T|T	0.19386|0.19386	-1.0307|-1.0307	10|6	0.37606|.	T|.	0.19|.	-15.8299|-15.8299	3.7007|3.7007	0.08382|0.08382	0.622:0.0:0.1004:0.2776|0.622:0.0:0.1004:0.2776	.|.	468;521;644;580;586|.	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9|.	.;.;.;CASC1_HUMAN;.|.	C|L	644;586;580;540;468;521;390|416	ENSP00000346126:F644C;ENSP00000379310:F586C;ENSP00000313141:F580C;ENSP00000379313:F540C;ENSP00000437373:F521C|.	ENSP00000313141:F580C|.	F|F	-|-	2|3	0|2	CASC1|CASC1	25155995|25155995	0.975000|0.975000	0.34042|0.34042	0.997000|0.997000	0.53966|0.53966	0.210000|0.210000	0.24377|0.24377	1.605000|1.605000	0.36815|0.36815	2.054000|2.054000	0.61138|0.61138	0.528000|0.528000	0.53228|0.53228	TTT|TTT		0.294	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		14	22	0	0	0	1	0	14	22					C	25264728	A	C	25264728	3	2	48	1	0	0	0	0	1	0	0	0	2662	14	1	4	423	4	CASC1	12	25264728	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2629124	25264728	108587167	2923	7391										
CASC1	55259	broad.mit.edu	37	chr12	25297311	25297311	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtcctaccattttcacttcAatatcaccttgttcctcctc	2	15	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:25297311A>T	ENST00000320267.9	-	8	1053	c.972T>A	c.(970-972)atT>atA	p.I324I	CASC1_ENST00000537577.1_Silent_p.I212I|CASC1_ENST00000545133.1_Silent_p.I265I|CASC1_ENST00000354189.5_Silent_p.I388I|CASC1_ENST00000395990.2_Silent_p.I284I|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395987.3_Silent_p.I330I	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	324										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)			TTTTCACTTCAATATCACCTT	0.353																																						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.(1162-1164)atT>atA		cancer susceptibility candidate 1							187	189	188					12																	25297311		2203	4300	6503	SO:0001819	synonymous_variant	55259							g.chr12:25297311A>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	ENST00000320267.9:c.972T>A	12.37:g.25297311A>T			Somatic				CASC1_ENST00000395990.2_Silent_p.I284I|CASC1_ENST00000320267.9_Silent_p.I324I|CASC1_ENST00000537577.1_Silent_p.I212I|CASC1_ENST00000395987.3_Silent_p.I330I|CASC1_ENST00000545133.1_Silent_p.I265I|CASC1_ENST00000557684.1_5'UTR	p.I388I	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)		9	1199	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		324					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Silent	SNP	ENST00000320267.9	37	c.1164T>A	CCDS41762.1																																																																																				0.353	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		44	86	0	0	0	1	0	44	86					T	25297311	A	T	25297311	2	4	48	1	0	0	0	0	0	0	0	1	2662	126	5	4		4	CASC1	12	25297311	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	32583	25297311	108554584	2924	7392										
CASC1	55259	broad.mit.edu	37	chr12	25299943	25299943	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccacaagggtaccttggattCttcttgaggtttgcccacac	9	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:25299943C>T	ENST00000320267.9	-	7	744	c.663G>A	c.(661-663)aaG>aaA	p.K221K	CASC1_ENST00000537577.1_Silent_p.K109K|CASC1_ENST00000545133.1_Silent_p.K162K|CASC1_ENST00000354189.5_Silent_p.K285K|CASC1_ENST00000395990.2_Silent_p.K181K|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395987.3_Silent_p.K227K	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	221										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)			ACCTTGGATTCTTCTTGAGGT	0.418																																						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.(853-855)aaG>aaA		cancer susceptibility candidate 1							168	152	157					12																	25299943		2203	4300	6503	SO:0001819	synonymous_variant	55259							g.chr12:25299943C>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	ENST00000320267.9:c.663G>A	12.37:g.25299943C>T			Somatic				CASC1_ENST00000395990.2_Silent_p.K181K|CASC1_ENST00000320267.9_Silent_p.K221K|CASC1_ENST00000537577.1_Silent_p.K109K|CASC1_ENST00000395987.3_Silent_p.K227K|CASC1_ENST00000545133.1_Silent_p.K162K|CASC1_ENST00000557684.1_5'UTR	p.K285K	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)		8	890	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		221					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Silent	SNP	ENST00000320267.9	37	c.855G>A	CCDS41762.1																																																																																				0.418	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		22	39	0	0	0	1	0	22	39					T	25299943	C	T	25299943	2	4	48	1	0	0	0	0	0	0	0	1	2662	912	32	3		3	CASC1	12	25299943	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2632	25299943	108551952	2925	7393										
ITPR2	3709	broad.mit.edu	37	chr12	26775334	26775334	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagttgaactggatttttttCttttctataaaaccaaaaac	4	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:26775334C>A	ENST00000381340.3	-	25	3543	c.3127G>T	c.(3127-3129)Gaa>Taa	p.E1043*	ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1043					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)	p.E1043*(1)	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)	GGATTTTTTTCTTTTCTATAA	0.373																																						ENST00000381340.3																		ETV6/ITPR2(2)	1	Substitution - Nonsense(1)	p.E1043*(1)	large_intestine(1)	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.(3127-3129)Gaa>Taa		inositol 1,4,5-trisphosphate receptor, type 2							70	70	70					12																	26775334		1839	4093	5932	SO:0001587	stop_gained	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.chr12:26775334C>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.3127G>T	12.37:g.26775334C>A	ENSP00000370744:p.Glu1043*		Somatic				ITPR2_ENST00000545902.1_5'UTR	p.E1043*	NM_002223.2	NP_002214.2	WXS	Illumina GAIIx	Phase_I	Q14571	ITPR2_HUMAN			25	3543	-	Colorectal(261;0.0847)		1043					O94773	Nonsense_Mutation	SNP	ENST00000381340.3	37	c.3127G>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	46	12.766245	0.99694	.	.	ENSG00000123104	ENST00000381340	.	.	.	5.11	5.11	0.69529	.	0.093586	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	18.7307	0.91734	0.0:1.0:0.0:0.0	.	.	.	.	X	1043	.	ENSP00000370744:E1043X	E	-	1	0	ITPR2	26666601	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	7.481000	0.81124	2.659000	0.90383	0.650000	0.86243	GAA		0.373	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		6	5	1	0	3.59834e-05	1	3.93264e-05	6	5					A	26775334	C	A	26775334	4	1	48	1	0	0	0	0	0	1	0	0	7930	922	32	2	5110	2	ITPR2	12	26775334	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1475391	26775334	107076561	2926	7394										
MRPS35	60488	broad.mit.edu	37	chr12	27869353	27869353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttatccagtaaaaaagggcGtgcccatggcaaaggaggga	14	7	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:27869353G>A	ENST00000081029.3	+	3	354	c.283G>A	c.(283-285)Gtg>Atg	p.V95M	MRPS35_ENST00000538315.1_Missense_Mutation_p.V95M	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.V95M(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					AAAAAAGGGCGTGCCCATGGC	0.443																																						ENST00000081029.3																			1	Substitution - Missense(1)	p.V95M(1)	endometrium(1)	breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6						c.(283-285)Gtg>Atg		mitochondrial ribosomal protein S35							80	76	78					12																	27869353		2203	4300	6503	SO:0001583	missense	60488				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr12:27869353G>A	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"Mitochondrial ribosomal proteins / small subunits"	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.283G>A	12.37:g.27869353G>A	ENSP00000081029:p.Val95Met		Somatic				MRPS35_ENST00000538315.1_Missense_Mutation_p.V95M	p.V95M	NM_021821.3	NP_068593.2	WXS	Illumina GAIIx	Phase_I	P82673	RT35_HUMAN			3	354	+	Lung SC(9;0.0873)		95					B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000081029.3	37	c.283G>A	CCDS8714.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867837	0.51588	.	.	ENSG00000061794	ENST00000081029;ENST00000321446;ENST00000538315	T;T	0.52526	0.7;0.66	5.88	4.99	0.66335	.	0.053065	0.85682	N	0.000000	T	0.37972	0.1023	L	0.52206	1.635	0.48341	D	0.999631	P;B	0.38677	0.642;0.127	B;B	0.25987	0.065;0.022	T	0.37361	-0.9709	10	0.59425	D	0.04	-23.4614	12.7139	0.57103	0.0755:0.0:0.9245:0.0	.	95;95	P82673-2;P82673	.;RT35_HUMAN	M	95	ENSP00000081029:V95M;ENSP00000445390:V95M	ENSP00000081029:V95M	V	+	1	0	MRPS35	27760620	1.000000	0.71417	0.627000	0.29227	0.614000	0.37383	4.326000	0.59241	1.504000	0.48704	-0.122000	0.15005	GTG		0.443	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	NM_021821		16	43	0	0	0	1	0	16	43					A	27869353	G	A	27869353	3	1	48	1	0	0	0	0	1	0	0	0	9853	1145	40	1	293	1	MRPS35	12	27869353	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1094019	27869353	105982542	2927	7395										
OVCH1	341350	broad.mit.edu	37	chr12	29642678	29642678	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catgatgggaagttccatttCttgtaggacatttgaatatt	9	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:29642678C>T	ENST00000318184.5	-	6	576	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	193	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)					AGTTCCATTTCTTGTAGGACA	0.448																																						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.(577-579)Gaa>Aaa		ovochymase 1							109	106	107					12																	29642678		1944	4144	6088	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29642678C>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.577G>A	12.37:g.29642678C>T	ENSP00000326708:p.Glu193Lys		Somatic					p.E193K	NM_183378.2	NP_899234.2	WXS	Illumina GAIIx	Phase_I	Q7RTY7	OVCH1_HUMAN			6	576	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		193			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000318184.5	37	c.577G>A		.	.	.	.	.	.	.	.	.	.	C	21.1	4.102094	0.76983	.	.	ENSG00000187950	ENST00000318184	D	0.89552	-2.53	2.22	2.22	0.28083	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.84897	0.5574	N	0.25426	0.745	0.09310	N	1	D	0.62365	0.991	P	0.54401	0.751	T	0.73742	-0.3887	9	0.17369	T	0.5	.	8.0252	0.30434	0.0:1.0:0.0:0.0	.	193	Q7RTY7	OVCH1_HUMAN	K	193	ENSP00000326708:E193K	ENSP00000326708:E193K	E	-	1	0	OVCH1	29533945	0.386000	0.25180	0.137000	0.22149	0.904000	0.53231	2.947000	0.49058	1.553000	0.49476	0.563000	0.77884	GAA		0.448	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		6	10	0	0	0	1	0	6	10					T	29642678	C	T	29642678	3	4	48	1	0	0	0	0	1	0	0	0	11332	922	32	3	2919	3	OVCH1	12	29642678	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1773325	29642678	104209217	2928	7396										
TMTC1	83857	broad.mit.edu	37	chr12	29659799	29659799	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctatgtttgatccttttctcGaacttcttgtaatcgttttt	5	8	2	1	rs200566462		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:29659799G>A	ENST00000539277.1	-	18	2687	c.2629C>T	c.(2629-2631)Cga>Tga	p.R877*	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Nonsense_Mutation_p.R769*|TMTC1_ENST00000551659.1_Nonsense_Mutation_p.R939*|TMTC1_ENST00000552618.1_Nonsense_Mutation_p.R901*	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	877						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TCCTTTTCTCGAACTTCTTGT	0.453													G|||	1	0.000199681	0	0.0014	5008	,	,		19629	0		0	False		,,,				2504	0					ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2305-2307)Cga>Tga		transmembrane and tetratricopeptide repeat containing 1		G	stop/ARG,stop/ARG	0,4406		0,0,2203	293	278	283		2629,2305	3	1	12		283	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained,stop-gained	TMTC1	NM_001193451.1,NM_175861.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	877/883,769/775	29659799	1,13005	2203	4300	6503	SO:0001587	stop_gained	83857					integral to membrane	binding	g.chr12:29659799G>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2629C>T	12.37:g.29659799G>A	ENSP00000442046:p.Arg877*		Somatic				TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Nonsense_Mutation_p.R901*|TMTC1_ENST00000551659.1_Nonsense_Mutation_p.R939*|TMTC1_ENST00000539277.1_Nonsense_Mutation_p.R877*	p.R769*	NM_175861.3	NP_787057.2	WXS	Illumina GAIIx	Phase_I	Q8IUR5	TMTC1_HUMAN			18	2778	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		877					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Nonsense_Mutation	SNP	ENST00000539277.1	37	c.2305C>T	CCDS53772.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	43	9.983998	0.99310	0.0	1.16E-4	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	.	.	.	5.13	3.05	0.35203	.	0.566102	0.16528	N	0.210512	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0756	12.1991	0.54315	0.0:0.0:0.4593:0.5407	.	.	.	.	X	640;769;939;901;877	.	ENSP00000256062:R769X	R	-	1	2	TMTC1	29551066	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	2.235000	0.43044	0.362000	0.24319	0.650000	0.86243	CGA		0.453	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		37	74	0	0	0	1	0	37	74					A	29659799	G	A	29659799	4	1	48	1	0	0	0	0	0	1	0	0	16275	1066	37	1	23	1	TMTC1	12	29659799	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	17121	29659799	104192096	2929	7397										
CAPRIN2	65981	broad.mit.edu	37	chr12	30881756	30881756	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctggctgttttgaatcctgTtcttcacacatgggagtggt	11	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:30881756T>G	ENST00000395805.2	-	8	2155	c.1608A>C	c.(1606-1608)gaA>gaC	p.E536D	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E536D|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.E203D|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E536D|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.E536D	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)					TTGAATCCTGTTCTTCACACA	0.433																																						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.(1606-1608)gaA>gaC		caprin family member 2							232	221	225					12																	30881756		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.chr12:30881756T>G	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1608A>C	12.37:g.30881756T>G	ENSP00000379150:p.Glu536Asp		Somatic				CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E536D|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.E203D|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E536D|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.E536D	p.E536D	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	WXS	Illumina GAIIx	Phase_I	Q6IMN6	CAPR2_HUMAN			8	2358	-	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)		536						Missense_Mutation	SNP	ENST00000395805.2	37	c.1608A>C	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	T	10.44	1.352026	0.24512	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T;T	0.74737	2.44;-0.61;2.86;-0.58;-0.87;2.86;2.47	4.55	-9.09	0.00717	.	0.948029	0.08866	N	0.882343	T	0.43809	0.1264	N	0.14661	0.345	0.09310	N	0.999999	B;B;B;B;B;B;B	0.10296	0.001;0.001;0.002;0.003;0.001;0.0;0.0	B;B;B;B;B;B;B	0.09377	0.004;0.001;0.002;0.004;0.002;0.003;0.001	T	0.26018	-1.0115	10	0.19590	T	0.45	-1.1513	2.0522	0.03573	0.1595:0.2645:0.3396:0.2365	.	536;262;536;536;536;536;536	Q6IMN6-6;E9PAU5;Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;.;.;CAPR2_HUMAN;.;.	D	282;536;536;536;203;536;262;455	ENSP00000415407:E282D;ENSP00000298892:E536D;ENSP00000379150:E536D;ENSP00000251071:E536D;ENSP00000309785:E203D;ENSP00000391479:E536D;ENSP00000438010:E455D	ENSP00000251071:E536D	E	-	3	2	CAPRIN2	30773023	0.000000	0.05858	0.142000	0.22268	0.976000	0.68499	-2.769000	0.00780	-1.935000	0.01049	-0.379000	0.06801	GAA		0.433	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		32	86	0	0	0	1	0	32	86					G	30881756	T	G	30881756	3	3	48	1	0	0	0	0	1	0	0	0	2638	1722	60	4	1819	4	CAPRIN2	12	30881756	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1221957	30881756	102970139	2930	7398										
DENND5B	160518	broad.mit.edu	37	chr12	31579260	31579260	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttttaataagccttctacGaatttacagttggtctgtgc	7	8	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:31579260G>A	ENST00000389082.5	-	9	2469	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F	DENND5B_ENST00000536562.1_Silent_p.F770F|DENND5B_ENST00000306833.6_Silent_p.F770F	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	735					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGCCTTCTACGAATTTACAGT	0.398																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2203-2205)ttC>ttT		DENN/MADD domain containing 5B							108	103	104					12																	31579260		1855	4116	5971	SO:0001819	synonymous_variant	160518					integral to membrane		g.chr12:31579260G>A	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2205C>T	12.37:g.31579260G>A			Somatic				DENND5B_ENST00000536562.1_Silent_p.F770F|DENND5B_ENST00000306833.6_Silent_p.F770F	p.F735F	NM_144973.3	NP_659410.3	WXS	Illumina GAIIx	Phase_I	Q6ZUT9	DEN5B_HUMAN			9	2469	-			735					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	c.2205C>T	CCDS44857.1																																																																																				0.398	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		7	11	0	0	0	1	0	7	11					A	31579260	G	A	31579260	2	1	48	1	0	0	0	0	0	0	0	1	4439	1049	37	1		1	DENND5B	12	31579260	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	697504	31579260	102272635	2931	7399										
FGD4	121512	broad.mit.edu	37	chr12	32751469	32751469	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttcacaaaatagccaatgaActtttgcttactgaaagagc	6	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32751469A>G	ENST00000427716.2	+	5	1063	c.639A>G	c.(637-639)gaA>gaG	p.E213E	FGD4_ENST00000381025.3_5'UTR|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000531134.1_Silent_p.E298E|FGD4_ENST00000546442.1_Silent_p.E120E|FGD4_ENST00000525053.1_Silent_p.E325E|FGD4_ENST00000534526.2_Silent_p.E350E	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	213	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)			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)					TAGCCAATGAACTTTTGCTTA	0.308																																						ENST00000427716.2																			0				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.(637-639)gaA>gaG		FYVE, RhoGEF and PH domain containing 4							93	93	93					12																	32751469		2203	4298	6501	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.chr12:32751469A>G	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.639A>G	12.37:g.32751469A>G			Somatic				FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000381025.3_5'UTR|FGD4_ENST00000525053.1_Silent_p.E325E|FGD4_ENST00000531134.1_Silent_p.E298E|FGD4_ENST00000534526.2_Silent_p.E350E|FGD4_ENST00000546442.1_Silent_p.E120E	p.E213E	NM_139241.2	NP_640334.2	WXS	Illumina GAIIx	Phase_I	Q96M96	FGD4_HUMAN			5	1063	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		213			DH.		Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	c.639A>G	CCDS8727.1																																																																																				0.308	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		21	37	0	0	0	1	0	21	37					G	32751469	A	G	32751469	2	3	48	1	0	0	0	0	0	0	0	1	5843	40	2	4		4	FGD4	12	32751469	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1172209	32751469	101100426	2932	7400										
FGD4	121512	broad.mit.edu	37	chr12	32754280	32754280	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcagagatggtgaataaaatCttttctaatatttcatcaat	6	5	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32754280C>A	ENST00000427716.2	+	6	1183	c.759C>A	c.(757-759)atC>atA	p.I253I	FGD4_ENST00000381025.3_Silent_p.I5I|FGD4_ENST00000266482.3_Silent_p.I5I|FGD4_ENST00000531134.1_Silent_p.I338I|FGD4_ENST00000546442.1_Silent_p.I160I|FGD4_ENST00000525053.1_Silent_p.I365I|FGD4_ENST00000534526.2_Silent_p.I390I	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	253	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)			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)					TGAATAAAATCTTTTCTAATA	0.353																																						ENST00000427716.2																			0				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.(757-759)atC>atA		FYVE, RhoGEF and PH domain containing 4							74	85	81					12																	32754280		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.chr12:32754280C>A	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.759C>A	12.37:g.32754280C>A			Somatic				FGD4_ENST00000266482.3_Silent_p.I5I|FGD4_ENST00000381025.3_Silent_p.I5I|FGD4_ENST00000525053.1_Silent_p.I365I|FGD4_ENST00000531134.1_Silent_p.I338I|FGD4_ENST00000534526.2_Silent_p.I390I|FGD4_ENST00000546442.1_Silent_p.I160I	p.I253I	NM_139241.2	NP_640334.2	WXS	Illumina GAIIx	Phase_I	Q96M96	FGD4_HUMAN			6	1183	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		253			DH.		Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	c.759C>A	CCDS8727.1																																																																																				0.353	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		20	38	1	0	6.44725e-10	1	7.85205e-10	20	38					A	32754280	C	A	32754280	2	1	48	1	0	0	0	0	0	0	0	1	5843	903	32	2		2	FGD4	12	32754280	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2811	32754280	101097615	2933	7401										
FGD4	121512	broad.mit.edu	37	chr12	32772699	32772699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctaaattcacagttcgaaCcagggttggcattgatggaa	10	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32772699C>T	ENST00000427716.2	+	11	1830	c.1406C>T	c.(1405-1407)aCc>aTc	p.T469I	FGD4_ENST00000381025.3_Missense_Mutation_p.T221I|FGD4_ENST00000266482.3_Missense_Mutation_p.T221I|FGD4_ENST00000525053.1_Missense_Mutation_p.T581I|FGD4_ENST00000546442.1_Missense_Mutation_p.T376I|FGD4_ENST00000534526.2_Missense_Mutation_p.T606I|FGD4_ENST00000531134.1_Missense_Mutation_p.T554I	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	469	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)|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)			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)					ACAGTTCGAACCAGGGTTGGC	0.413																																						ENST00000427716.2																			0				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.(1405-1407)aCc>aTc		FYVE, RhoGEF and PH domain containing 4							127	121	123					12																	32772699		2203	4300	6503	SO:0001583	missense	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.chr12:32772699C>T	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.1406C>T	12.37:g.32772699C>T	ENSP00000394487:p.Thr469Ile		Somatic				FGD4_ENST00000525053.1_Missense_Mutation_p.T581I|FGD4_ENST00000546442.1_Missense_Mutation_p.T376I|FGD4_ENST00000266482.3_Missense_Mutation_p.T221I|FGD4_ENST00000531134.1_Missense_Mutation_p.T554I|FGD4_ENST00000534526.2_Missense_Mutation_p.T606I|FGD4_ENST00000381025.3_Missense_Mutation_p.T221I	p.T469I	NM_139241.2	NP_640334.2	WXS	Illumina GAIIx	Phase_I	Q96M96	FGD4_HUMAN			11	1830	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		469			PH 1.		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.1406C>T	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604460	0.46423	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	D;D;D;D;D;D;T	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-1.28	5.67	3.8	0.43715	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.122405	0.36519	N	0.002555	D	0.91395	0.7285	L	0.55834	1.745	0.51482	D	0.999927	B;B;D;D	0.62365	0.198;0.11;0.977;0.991	B;B;P;P	0.61722	0.215;0.155;0.893;0.877	D	0.90970	0.4819	10	0.66056	D	0.02	-7.8961	12.7419	0.57257	0.1313:0.7427:0.126:0.0	.	581;554;469;221	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	I	606;554;469;221;376;581;221	ENSP00000449273:T606I;ENSP00000431323:T554I;ENSP00000394487:T469I;ENSP00000266482:T221I;ENSP00000446695:T376I;ENSP00000433666:T581I;ENSP00000370413:T221I	ENSP00000266482:T221I	T	+	2	0	FGD4	32663966	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.598000	0.54038	0.695000	0.31675	-0.165000	0.13383	ACC		0.413	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		29	64	0	0	0	1	0	29	64					T	32772699	C	T	32772699	3	4	48	1	0	0	0	0	1	0	0	0	5843	507	18	3	1440	3	FGD4	12	32772699	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	18419	32772699	101079196	2934	7402										
DNM1L	10059	broad.mit.edu	37	chr12	32884447	32884447	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagcaattacagtacacaggTaacggagagaaatgtaacag	10	6	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32884447T>C	ENST00000549701.1	+	11	1430		c.e11+2		DNM1L_ENST00000553257.1_Splice_Site|DNM1L_ENST00000547312.1_Splice_Site|DNM1L_ENST00000358214.5_Splice_Site|DNM1L_ENST00000452533.2_Splice_Site|DNM1L_ENST00000266481.6_Splice_Site|DNM1L_ENST00000381000.4_Splice_Site|DNM1L_ENST00000414834.2_Splice_Site|YARS2_ENST00000551673.1_Intron			O00429	DNM1L_HUMAN	dynamin 1-like						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)					AGTACACAGGTAACGGAGAGA	0.433																																						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.e11+2		dynamin 1-like							77	75	76					12																	32884447		2203	4300	6503	SO:0001630	splice_region_variant	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32884447T>C	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.1356+2T>C	12.37:g.32884447T>C			Somatic				DNM1L_ENST00000547312.1_Splice_Site|DNM1L_ENST00000549701.1_Splice_Site|DNM1L_ENST00000414834.2_Splice_Site|DNM1L_ENST00000553257.1_Splice_Site|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Splice_Site|DNM1L_ENST00000358214.5_Splice_Site|DNM1L_ENST00000266481.6_Splice_Site		NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	WXS	Illumina GAIIx	Phase_I	O00429	DNM1L_HUMAN			11	1520	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)							A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Splice_Site	SNP	ENST00000549701.1	37		CCDS8729.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.840122	0.71488	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6903	0.69080	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNM1L	32775714	1.000000	0.71417	0.895000	0.35142	0.971000	0.66376	5.852000	0.69488	1.877000	0.54381	0.528000	0.53228	.		0.433	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062	Intron	6	61	0	0	0	1	0	6	61					C	32884447	T	C	32884447	5	2	48	1	0	0	0	0	0	0	1	0	4673	1652	57	4	1400	4	DNM1L	12	32884447	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	111748	32884447	100967448	2935	7403										
YARS2	51067	broad.mit.edu	37	chr12	32908477	32908477	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcgccgtggcgcctcccaccAgcgcgatcacgttgtggccc	13	18	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32908477A>C	ENST00000324868.8	-	1	359	c.332T>G	c.(331-333)cTg>cGg	p.L111R		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	111					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GCCTCCCACCAGCGCGATCAC	0.672											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000324868.8																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(331-333)cTg>cGg		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						21	23	23					12																	32908477		2202	4300	6502	SO:0001583	missense	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32908477A>C	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	24249	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 2, mitochondrial"	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.332T>G	12.37:g.32908477A>C	ENSP00000320658:p.Leu111Arg		Somatic	OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	836		p.L111R	NM_001040436.2	NP_001035526.1	WXS	Illumina GAIIx	Phase_I	Q9Y2Z4	SYYM_HUMAN			1	359	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		111					D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	c.332T>G	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563590	0.86335	.	.	ENSG00000139131	ENST00000324868	T	0.58506	0.33	4.92	3.76	0.43208	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.288098	0.32301	N	0.006292	T	0.81498	0.4835	H	0.95884	3.735	0.58432	D	0.999997	D	0.71674	0.998	D	0.71656	0.974	D	0.85537	0.1213	10	0.87932	D	0	-17.6449	11.6878	0.51497	0.8517:0.1483:0.0:0.0	.	111	Q9Y2Z4	SYYM_HUMAN	R	111	ENSP00000320658:L111R	ENSP00000320658:L111R	L	-	2	0	YARS2	32799744	1.000000	0.71417	0.971000	0.41717	0.997000	0.91878	8.354000	0.90080	0.896000	0.36366	0.529000	0.55759	CTG		0.672	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		14	60	0	0	0	1	0	14	60					C	32908477	A	C	32908477	3	2	48	1	0	0	0	0	1	0	0	0	17483	188	7	4	1121	4	YARS2	12	32908477	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	24030	32908477	100943418	2936	7404										
ALG10B	144245	broad.mit.edu	37	chr12	38714484	38714484	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctattctactttttttcattTactctctttttttcttttcc	0	10	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:38714484T>G	ENST00000308742.4	+	3	1207	c.891T>G	c.(889-891)ttT>ttG	p.F297L	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	297					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)				TTTTTTCATTTACTCTCTTTT	0.348																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(889-891)ttT>ttG		ALG10B, alpha-1,2-glucosyltransferase							131	136	134					12																	38714484		2203	4299	6502	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714484T>G	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.891T>G	12.37:g.38714484T>G	ENSP00000310120:p.Phe297Leu		Somatic				ALG10B_ENST00000551464.1_Intron	p.F297L	NM_001013620.3	NP_001013642.1	WXS	Illumina GAIIx	Phase_I	Q5I7T1	AG10B_HUMAN			3	1207	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	297					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.891T>G	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	t	14.31	2.496185	0.44352	.	.	ENSG00000175548	ENST00000308742	T	0.58060	0.36	3.34	-1.71	0.08133	.	0.000000	0.85682	D	0.000000	T	0.63780	0.2540	M	0.79693	2.465	0.80722	D	1	D	0.69078	0.997	D	0.63283	0.913	T	0.61845	-0.6979	10	0.45353	T	0.12	.	8.1232	0.30984	0.0:0.4731:0.0:0.5269	.	297	Q5I7T1	AG10B_HUMAN	L	297	ENSP00000310120:F297L	ENSP00000310120:F297L	F	+	3	2	ALG10B	37000751	0.998000	0.40836	0.440000	0.26846	0.496000	0.33645	0.530000	0.23036	-0.349000	0.08274	-0.256000	0.11100	TTT		0.348	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		30	85	0	0	0	1	0	30	85					G	38714484	T	G	38714484	3	3	48	1	0	0	0	0	1	0	0	0	512	1751	61	4	901	4	ALG10B	12	38714484	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	5806007	38714484	95137411	2937	7405										
ALG10B	144245	broad.mit.edu	37	chr12	38714839	38714839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcagaaactgctggaatttCgttacttcattttaccttat	5	9	2	1	rs375350214		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:38714839C>T	ENST00000308742.4	+	3	1562	c.1246C>T	c.(1246-1248)Cgt>Tgt	p.R416C	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	416					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)				GCTGGAATTTCGTTACTTCAT	0.333																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(1246-1248)Cgt>Tgt		ALG10B, alpha-1,2-glucosyltransferase							189	188	189					12																	38714839		2203	4300	6503	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714839C>T	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.1246C>T	12.37:g.38714839C>T	ENSP00000310120:p.Arg416Cys		Somatic				ALG10B_ENST00000551464.1_Intron	p.R416C	NM_001013620.3	NP_001013642.1	WXS	Illumina GAIIx	Phase_I	Q5I7T1	AG10B_HUMAN			3	1562	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	416					B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.1246C>T	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	c	14.21	2.468786	0.43839	.	.	ENSG00000175548	ENST00000308742	T	0.70516	-0.49	3.49	3.49	0.39957	.	0.000000	0.85682	D	0.000000	D	0.86879	0.6039	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90051	0.4149	10	0.87932	D	0	.	13.3095	0.60371	0.0:1.0:0.0:0.0	.	416	Q5I7T1	AG10B_HUMAN	C	416	ENSP00000310120:R416C	ENSP00000310120:R416C	R	+	1	0	ALG10B	37001106	1.000000	0.71417	0.999000	0.59377	0.338000	0.28826	5.674000	0.68117	2.252000	0.74401	0.655000	0.94253	CGT		0.333	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		31	91	0	0	0	1	0	31	91					T	38714839	C	T	38714839	3	4	48	1	0	0	0	0	1	0	0	0	512	884	31	1	1256	1	ALG10B	12	38714839	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	355	38714839	95137056	2938	7406										
CPNE8	144402	broad.mit.edu	37	chr12	39161529	39161529	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgttcgcacaaaattgcatCaaaacggcatcctaaaaaca	5	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:39161529C>T	ENST00000331366.5	-	8	579	c.483G>A	c.(481-483)ttG>ttA	p.L161L	CPNE8_ENST00000360449.3_Silent_p.L149L	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	161	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AAAATTGCATCAAAACGGCAT	0.328																																						ENST00000331366.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(481-483)ttG>ttA		copine VIII							64	67	66					12																	39161529		2203	4297	6500	SO:0001819	synonymous_variant	144402							g.chr12:39161529C>T	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.483G>A	12.37:g.39161529C>T			Somatic				CPNE8_ENST00000360449.3_Silent_p.L149L	p.L161L	NM_153634.2	NP_705898.1	WXS	Illumina GAIIx	Phase_I	Q86YQ8	CPNE8_HUMAN			8	579	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	161			C2 2.		Q2TB41|Q86VY2	Silent	SNP	ENST00000331366.5	37	c.483G>A	CCDS8733.1																																																																																				0.328	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		19	35	0	0	0	1	0	19	35					T	39161529	C	T	39161529	2	4	48	1	0	0	0	0	0	0	0	1	3820	825	29	3		3	CPNE8	12	39161529	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	446690	39161529	94690366	2939	7407										
CPNE8	144402	broad.mit.edu	37	chr12	39242380	39242380	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caagtcaaaacgaagattctCtctttcttcaaaaaagtagt	5	8	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:39242380C>T	ENST00000331366.5	-	4	367	c.271G>A	c.(271-273)Gag>Aag	p.E91K	CPNE8_ENST00000360449.3_Missense_Mutation_p.E79K	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	91	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CGAAGATTCTCTCTTTCTTCA	0.308																																						ENST00000331366.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(271-273)Gag>Aag		copine VIII							36	38	38					12																	39242380		2197	4284	6481	SO:0001583	missense	144402							g.chr12:39242380C>T	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.271G>A	12.37:g.39242380C>T	ENSP00000329748:p.Glu91Lys		Somatic				CPNE8_ENST00000360449.3_Missense_Mutation_p.E79K	p.E91K	NM_153634.2	NP_705898.1	WXS	Illumina GAIIx	Phase_I	Q86YQ8	CPNE8_HUMAN			4	367	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	91			C2 1.		Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.271G>A	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831537	0.50845	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.42900	0.96;0.96	3.8	3.8	0.43715	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.078495	0.52532	D	0.000079	T	0.24392	0.0591	N	0.05330	-0.07	0.47584	D	0.999467	B	0.14012	0.009	B	0.23275	0.045	T	0.11470	-1.0586	10	0.87932	D	0	-18.157	10.9202	0.47161	0.0:0.6782:0.3217:0.0	.	91	Q86YQ8	CPNE8_HUMAN	K	91;79	ENSP00000329748:E91K;ENSP00000353633:E79K	ENSP00000329748:E91K	E	-	1	0	CPNE8	37528647	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.056000	0.57448	2.045000	0.60652	0.484000	0.47621	GAG		0.308	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		6	24	0	0	0	1	0	6	24					T	39242380	C	T	39242380	3	4	48	1	0	0	0	0	1	0	0	0	3820	922	32	3	1491	3	CPNE8	12	39242380	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	80851	39242380	94609515	2940	7408										
ABCD2	225	broad.mit.edu	37	chr12	40010816	40010816	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgcaaagccagttgcagtgAtaataggtatagccaccata	9	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:40010816A>C	ENST00000308666.3	-	2	1229	c.1094T>G	c.(1093-1095)aTc>aGc	p.I365S		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	365	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AGTTGCAGTGATAATAGGTAT	0.338																																						ENST00000308666.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1093-1095)aTc>aGc		ATP-binding cassette, sub-family D (ALD), member 2							153	130	138					12																	40010816		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40010816A>C	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1094T>G	12.37:g.40010816A>C	ENSP00000310688:p.Ile365Ser		Somatic					p.I365S	NM_005164.3	NP_005155.1	WXS	Illumina GAIIx	Phase_I	Q9UBJ2	ABCD2_HUMAN			2	1229	-			365			ABC transmembrane type-1.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.1094T>G	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.414068	0.83449	.	.	ENSG00000173208	ENST00000308666	D	0.99660	-6.32	5.2	5.2	0.72013	ABC transporter, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99477	0.9814	M	0.76574	2.34	0.80722	D	1	D	0.63046	0.992	D	0.66497	0.944	D	0.98588	1.0653	9	.	.	.	-27.5244	15.3633	0.74499	1.0:0.0:0.0:0.0	.	365	Q9UBJ2	ABCD2_HUMAN	S	365	ENSP00000310688:I365S	.	I	-	2	0	ABCD2	38297083	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.832000	0.92079	2.083000	0.62718	0.528000	0.53228	ATC		0.338	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		31	48	0	0	0	1	0	31	48					C	40010816	A	C	40010816	3	2	48	1	0	0	0	0	1	0	0	0	61	333	12	4	1164	4	ABCD2	12	40010816	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	768436	40010816	93841079	2941	7409										
LRRK2	120892	broad.mit.edu	37	chr12	40668394	40668394	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttgattttagttcattggaAatcctgggattcagaaatgt	9	4	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:40668394A>C	ENST00000298910.7	+	15	1724	c.1666A>C	c.(1666-1668)Aat>Cat	p.N556H	LRRK2_ENST00000343742.2_Missense_Mutation_p.N556H	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	556					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)				GTTCATTGGAAATCCTGGGAT	0.318																																						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.(1666-1668)Aat>Cat		leucine-rich repeat kinase 2							118	122	120					12																	40668394		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.chr12:40668394A>C	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.1666A>C	12.37:g.40668394A>C	ENSP00000298910:p.Asn556His		Somatic				LRRK2_ENST00000343742.2_Missense_Mutation_p.N556H	p.N556H	NM_198578.3	NP_940980.3	WXS	Illumina GAIIx	Phase_I	Q5S007	LRRK2_HUMAN			15	1724	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	556					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.1666A>C	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.725111	0.30593	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.65732	-0.17;-0.17;-0.17	6.07	6.07	0.98685	Armadillo-like helical (1);Armadillo-type fold (1);	0.043892	0.85682	D	0.000000	T	0.49762	0.1576	L	0.29908	0.895	0.29937	N	0.821361	B;B	0.14012	0.009;0.001	B;B	0.09377	0.004;0.002	T	0.49881	-0.8892	10	0.40728	T	0.16	.	11.9544	0.52973	0.7355:0.2645:0.0:0.0	.	556;556	E9PC85;Q5S007	.;LRRK2_HUMAN	H	304;556;556	ENSP00000398726:N304H;ENSP00000341930:N556H;ENSP00000298910:N556H	ENSP00000298910:N556H	N	+	1	0	LRRK2	38954661	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.511000	0.53400	2.326000	0.78906	0.533000	0.62120	AAT		0.318	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		15	52	0	0	0	1	0	15	52					C	40668394	A	C	40668394	3	2	48	1	0	0	0	0	1	0	0	0	9042	14	1	4	1724	4	LRRK2	12	40668394	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	657578	40668394	93183501	2942	7410										
LRRK2	120892	broad.mit.edu	37	chr12	40749930	40749930	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttttagcaaacaaaaaaatTttcttttggttggaaccgct	6	7	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:40749930T>G	ENST00000298910.7	+	46	6842	c.6784T>G	c.(6784-6786)Ttt>Gtt	p.F2262V		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2262					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)				ACAAAAAAATTTTCTTTTGGT	0.289																																						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.(6784-6786)Ttt>Gtt		leucine-rich repeat kinase 2							49	48	48					12																	40749930		2202	4295	6497	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.chr12:40749930T>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.6784T>G	12.37:g.40749930T>G	ENSP00000298910:p.Phe2262Val		Somatic					p.F2262V	NM_198578.3	NP_940980.3	WXS	Illumina GAIIx	Phase_I	Q5S007	LRRK2_HUMAN			46	6842	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2262					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.6784T>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.233042	0.39498	.	.	ENSG00000188906	ENST00000298910	T	0.35236	1.32	5.96	4.82	0.62117	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.050214	0.85682	D	0.000000	T	0.32675	0.0837	L	0.57536	1.79	0.37259	D	0.906884	B;B	0.28258	0.205;0.205	B;B	0.21546	0.035;0.035	T	0.20571	-1.0271	10	0.23302	T	0.38	.	11.9938	0.53189	0.0:0.0672:0.0:0.9328	.	2262;2262	Q17RV3;Q5S007	.;LRRK2_HUMAN	V	2262	ENSP00000298910:F2262V	ENSP00000298910:F2262V	F	+	1	0	LRRK2	39036197	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	6.477000	0.73591	1.084000	0.41184	0.533000	0.62120	TTT		0.289	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		4	10	0	0	0	1	0	4	10					G	40749930	T	G	40749930	3	3	48	1	0	0	0	0	1	0	0	0	9042	1841	64	4	6966	4	LRRK2	12	40749930	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	81536	40749930	93101965	2943	7411										
PDZRN4	29951	broad.mit.edu	37	chr12	41967015	41967015	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaagcaaggagaaggttttaGaaggcagcaagcttcctgat	12	6	0	3	rs369306795		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:41967015G>T	ENST00000402685.2	+	10	2442	c.2434G>T	c.(2434-2436)Gaa>Taa	p.E812*	PDZRN4_ENST00000298919.7_Nonsense_Mutation_p.E552*|PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.E554*	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	812							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAGGTTTTAGAAGGCAGCAA	0.502																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1654-1656)Gaa>Taa		PDZ domain containing ring finger 4							160	162	161					12																	41967015		2203	4300	6503	SO:0001587	stop_gained	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967015G>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2434G>T	12.37:g.41967015G>T	ENSP00000384197:p.Glu812*		Somatic				PDZRN4_ENST00000402685.2_Nonsense_Mutation_p.E812*|PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.E554*	p.E552*			WXS	Illumina GAIIx	Phase_I	Q6ZMN7	PZRN4_HUMAN			10	2042	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	812					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Nonsense_Mutation	SNP	ENST00000402685.2	37	c.1654G>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293367	0.80914	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	.	.	.	5.34	3.48	0.39840	.	4.440630	0.00357	N	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-12.4923	9.8709	0.41172	0.0705:0.2637:0.6658:0.0	.	.	.	.	X	812;554;552	.	ENSP00000298919:E552X	E	+	1	0	PDZRN4	40253282	1.000000	0.71417	0.002000	0.10522	0.016000	0.09150	4.149000	0.58091	0.882000	0.36016	0.650000	0.86243	GAA		0.502	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		26	213	1	0	9.39395e-14	1	1.21013e-13	26	213					T	41967015	G	T	41967015	4	4	48	1	0	0	0	0	0	1	0	0	11719	943	33	2	2545	2	PDZRN4	12	41967015	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1217085	41967015	91884880	2944	7412										
ADAMTS20	80070	broad.mit.edu	37	chr12	43777415	43777415	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaggagggttcctgcaattCttggatgtaagagatatggt	13	5	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:43777415C>A	ENST00000389420.3	-	31	4742	c.4743G>T	c.(4741-4743)aaG>aaT	p.K1581N		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1581	TSP type-1 13. {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)		TCCTGCAATTCTTGGATGTAA	0.368																																						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.(4741-4743)aaG>aaT		ADAM metallopeptidase with thrombospondin type 1 motif, 20							143	131	135					12																	43777415		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43777415C>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.4743G>T	12.37:g.43777415C>A	ENSP00000374071:p.Lys1581Asn		Somatic					p.K1581N	NM_025003.3	NP_079279.3	WXS	Illumina GAIIx	Phase_I	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	31	4742	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1581			TSP type-1 13.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4743G>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	8.729	0.916198	0.17907	.	.	ENSG00000173157	ENST00000389420	T	0.60797	0.16	4.7	-0.215	0.13157	.	0.238438	0.28834	N	0.013997	T	0.53270	0.1786	L	0.55990	1.75	0.09310	N	0.999999	P	0.47409	0.895	P	0.47626	0.552	T	0.50233	-0.8852	10	0.52906	T	0.07	.	8.7052	0.34349	0.0:0.3511:0.0:0.6489	.	1581	P59510	ATS20_HUMAN	N	1581	ENSP00000374071:K1581N	ENSP00000374071:K1581N	K	-	3	2	ADAMTS20	42063682	0.182000	0.23173	0.133000	0.22050	0.006000	0.05464	-0.005000	0.12855	0.052000	0.16007	-0.302000	0.09304	AAG		0.368	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		9	22	1	0	7.48243e-07	1	8.49459e-07	9	22					A	43777415	C	A	43777415	3	1	48	1	0	0	0	0	1	0	0	0	266	912	32	2	1024	2	ADAMTS20	12	43777415	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1810400	43777415	90074480	2945	7413										
NELL2	4753	broad.mit.edu	37	chr12	45097553	45097553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagagccctaaaaccatctCgacagctacaaacagccctg	7	14	1	1	rs114802162		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:45097553C>T	ENST00000429094.2	-	12	1778	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	NELL2_ENST00000549027.1_Missense_Mutation_p.R424Q|NELL2_ENST00000395487.2_Missense_Mutation_p.R424Q|NELL2_ENST00000452445.2_Missense_Mutation_p.R425Q|NELL2_ENST00000437801.2_Missense_Mutation_p.R475Q|NELL2_ENST00000551601.1_Missense_Mutation_p.R424Q|NELL2_ENST00000333837.4_Missense_Mutation_p.R448Q	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	425	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R475Q(1)|p.R425Q(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)		AAAACCATCTCGACAGCTACA	0.393													C|||	1	0.000199681	8e-04	0	5008	,	,		15632	0		0	False		,,,				2504	0					ENST00000429094.2																			2	Substitution - Missense(2)	p.R475Q(1)|p.R425Q(1)	large_intestine(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.(1273-1275)cGa>cAa		NEL-like 2 (chicken)							93	87	89					12																	45097553		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45097553C>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1274G>A	12.37:g.45097553C>T	ENSP00000390680:p.Arg425Gln		Somatic				NELL2_ENST00000549027.1_Missense_Mutation_p.R424Q|NELL2_ENST00000395487.2_Missense_Mutation_p.R424Q|NELL2_ENST00000452445.2_Missense_Mutation_p.R425Q|NELL2_ENST00000333837.4_Missense_Mutation_p.R448Q|NELL2_ENST00000437801.2_Missense_Mutation_p.R475Q|NELL2_ENST00000551601.1_Missense_Mutation_p.R424Q	p.R425Q	NM_001145108.1	NP_001138580.1	WXS	Illumina GAIIx	Phase_I	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	12	1778	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	425			EGF-like 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.1274G>A	CCDS8746.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	15.34|15.34	2.805758|2.805758	0.50421|0.50421	.|.	.|.	ENSG00000184613|ENSG00000184613	ENST00000550313|ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684	.|D;D;T;D;D;D;D	.|0.95622	.|-3.28;-3.28;-0.62;-3.28;-3.28;-2.2;-3.76	5.6|5.6	4.52|4.52	0.55395|0.55395	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|0.199086	.|0.43416	.|D	.|0.000564	D|D	0.90714|0.90714	0.7086|0.7086	L|L	0.29908|0.29908	0.895|0.895	0.46317|0.46317	D|D	0.998989|0.998989	.|B;B;B;B;B;B	.|0.22146	.|0.019;0.051;0.04;0.016;0.024;0.065	.|B;B;B;B;B;B	.|0.14578	.|0.003;0.011;0.011;0.003;0.003;0.01	D|D	0.86854|0.86854	0.2025|0.2025	5|10	.|0.16420	.|T	.|0.52	-10.4736|-10.4736	15.3805|15.3805	0.74651|0.74651	0.0:0.9222:0.0:0.0778|0.0:0.9222:0.0:0.0778	.|.	.|448;475;424;425;425;424	.|B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.|.;.;.;.;NELL2_HUMAN;.	K|Q	169|424;425;424;425;424;448;475;424	.|ENSP00000378866:R424Q;ENSP00000390680:R425Q;ENSP00000449332:R424Q;ENSP00000394612:R425Q;ENSP00000447927:R424Q;ENSP00000327988:R448Q;ENSP00000416341:R475Q	.|ENSP00000327988:R448Q	E|R	-|-	1|2	0|0	NELL2|NELL2	43383820|43383820	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.339000|2.339000	0.43965|0.43965	2.641000|2.641000	0.89580|0.89580	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.393	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		23	41	0	0	0	1	0	23	41					T	45097553	C	T	45097553	3	4	48	1	0	0	0	0	1	0	0	0	10343	884	31	1	1212	1	NELL2	12	45097553	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1320138	45097553	88754342	2946	7414										
NELL2	4753	broad.mit.edu	37	chr12	45169892	45169892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgcaagtcctttcacaataGcactgatccaatctattcat	5	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:45169892G>A	ENST00000429094.2	-	8	1308	c.804C>T	c.(802-804)tgC>tgT	p.C268C	NELL2_ENST00000549027.1_Silent_p.C267C|NELL2_ENST00000395487.2_Silent_p.C267C|NELL2_ENST00000452445.2_Silent_p.C268C|NELL2_ENST00000437801.2_Silent_p.C318C|NELL2_ENST00000551601.1_Silent_p.C267C|NELL2_ENST00000333837.4_Silent_p.C291C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	268						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTTCACAATAGCACTGATCCA	0.458																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(802-804)tgC>tgT		NEL-like 2 (chicken)							177	147	157					12																	45169892		2203	4300	6503	SO:0001819	synonymous_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45169892G>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.804C>T	12.37:g.45169892G>A			Somatic				NELL2_ENST00000549027.1_Silent_p.C267C|NELL2_ENST00000395487.2_Silent_p.C267C|NELL2_ENST00000452445.2_Silent_p.C268C|NELL2_ENST00000333837.4_Silent_p.C291C|NELL2_ENST00000437801.2_Silent_p.C318C|NELL2_ENST00000551601.1_Silent_p.C267C	p.C268C	NM_001145108.1	NP_001138580.1	WXS	Illumina GAIIx	Phase_I	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	8	1308	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	268					B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	c.804C>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353674	0.24512	.	.	ENSG00000184613	ENST00000550313	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	T	0.76205	0.3955	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74272	-0.3719	4	.	.	.	-13.6253	19.6425	0.95763	0.0:0.0:1.0:0.0	.	.	.	.	V	17	.	.	A	-	2	0	NELL2	43456159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.374000	0.66167	2.645000	0.89757	0.650000	0.86243	GCT		0.458	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		19	49	0	0	0	1	0	19	49					A	45169892	G	A	45169892	2	1	48	1	0	0	0	0	0	0	0	1	10343	963	34	3		3	NELL2	12	45169892	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	72339	45169892	88682003	2947	7415										
ANO6	196527	broad.mit.edu	37	chr12	45740823	45740823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaggaaaagacaagcatacGaatctaaccttatctgtcat	7	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:45740823G>A	ENST00000320560.8	+	4	500	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Missense_Mutation_p.E121K|ANO6_ENST00000441606.2_Missense_Mutation_p.E82K|ANO6_ENST00000425752.2_Missense_Mutation_p.E100K|ANO6_ENST00000435642.1_Missense_Mutation_p.E100K	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	100					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ACAAGCATACGAATCTAACCT	0.393																																						ENST00000320560.8																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(298-300)Gaa>Aaa		anoctamin 6							157	143	148					12																	45740823		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45740823G>A	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.298G>A	12.37:g.45740823G>A	ENSP00000320087:p.Glu100Lys		Somatic				ANO6_ENST00000425752.2_Missense_Mutation_p.E100K|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.E100K|ANO6_ENST00000441606.2_Missense_Mutation_p.E82K|ANO6_ENST00000423947.3_Missense_Mutation_p.E121K	p.E100K	NM_001025356.2	NP_001020527.2	WXS	Illumina GAIIx	Phase_I	Q4KMQ2	ANO6_HUMAN			4	500	+			100					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.298G>A	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954443	0.73902	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.81819	0.4903	M	0.88241	2.94	0.53005	D	0.999967	D;P;D;D	0.76494	0.999;0.939;0.982;0.989	P;B;B;P	0.62649	0.905;0.393;0.383;0.563	D	0.84068	0.0378	10	0.56958	D	0.05	.	13.2894	0.60262	0.0:0.1592:0.8408:0.0	.	82;121;100;100	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	K	100;121;100;100;82	ENSP00000391417:E100K;ENSP00000409126:E121K;ENSP00000413840:E100K;ENSP00000320087:E100K;ENSP00000413137:E82K	ENSP00000320087:E100K	E	+	1	0	ANO6	44027090	1.000000	0.71417	0.953000	0.39169	0.911000	0.54048	4.265000	0.58865	2.797000	0.96272	0.563000	0.77884	GAA		0.393	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		4	51	0	0	0	1	0	4	51					A	45740823	G	A	45740823	3	1	48	1	0	0	0	0	1	0	0	0	701	1059	37	1	332	1	ANO6	12	45740823	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	570931	45740823	88111072	2948	7416										
ARID2	196528	broad.mit.edu	37	chr12	46246346	46246346	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaacctctgttatacagggAcatcaaatcatagcagttcc	6	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:46246346A>G	ENST00000334344.6	+	15	4612	c.4440A>G	c.(4438-4440)ggA>ggG	p.G1480G	ARID2_ENST00000422737.1_Silent_p.G1331G|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.G1090G|ARID2_ENST00000457135.1_Silent_p.G88G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1480					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)		TTATACAGGGACATCAAATCA	0.448			"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.(4438-4440)ggA>ggG		AT rich interactive domain 2 (ARID, RFX-like)							120	114	116					12																	46246346		2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46246346A>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.4440A>G	12.37:g.46246346A>G			Somatic				ARID2_ENST00000444670.1_Silent_p.G1090G|ARID2_ENST00000457135.1_Silent_p.G88G|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.G1331G	p.G1480G	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	4612	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1480					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.4440A>G	CCDS31783.1																																																																																				0.448	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		38	64	0	0	0	1	0	38	64					G	46246346	A	G	46246346	2	3	48	1	0	0	0	0	0	0	0	1	915	262	10	4		4	ARID2	12	46246346	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	505523	46246346	87605549	2949	7417										
AMIGO2	91523	broad.mit.edu	37	chr12	47471533	47471533	+	5'Flank	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcaggggcatggagtcagaTagaggtacaaaagtaccaaa	13	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:47471533T>C	ENST00000546455.1	+	0	0				AMIGO2_ENST00000550413.1_Missense_Mutation_p.Y418C|AMIGO2_ENST00000266581.4_Missense_Mutation_p.Y418C|AMIGO2_ENST00000321382.3_Missense_Mutation_p.Y418C|AMIGO2_ENST00000429635.1_Missense_Mutation_p.Y418C			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										TGGAGTCAGATAGAGGTACAA	0.463																																						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.(1252-1254)tAt>tGt		adhesion molecule with Ig-like domain 2							128	132	131					12																	47471533		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47471533T>C	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.47471533T>C	Exception_encountered		Somatic				AMIGO2_ENST00000429635.1_Missense_Mutation_p.Y418C|AMIGO2_ENST00000550413.1_Missense_Mutation_p.Y418C|AMIGO2_ENST00000321382.3_Missense_Mutation_p.Y418C	p.Y418C	NM_181847.4	NP_862830.1	WXS	Illumina GAIIx	Phase_I	Q86SJ2	AMGO2_HUMAN			2	1719	-	Renal(347;0.138)|Lung SC(27;0.192)		418					Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.1253A>G	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.076148	0.76415	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.71962	0.3402	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76027	-0.3109	10	0.87932	D	0	-17.8008	14.7375	0.69427	0.0:0.0:0.0:1.0	.	418	Q86SJ2	AMGO2_HUMAN	C	418	ENSP00000266581:Y418C;ENSP00000449034:Y418C;ENSP00000406020:Y418C;ENSP00000320848:Y418C	ENSP00000266581:Y418C	Y	-	2	0	AMIGO2	45757800	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.492000	0.81482	2.212000	0.71576	0.454000	0.30748	TAT		0.463	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		27	34	0	0	0	1	0	27	34					C	47471533	T	C	47471533	1	2	48	0	1	0	0	0	0	0	0	0	576	1406	49	4		4	AMIGO2	12	47471533	5'Flank	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1225187	47471533	86380362	2950	7418										
CCNT1	904	broad.mit.edu	37	chr12	49087243	49087243	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caatcttggctggatgatcaAacacagcccctccagtctct	7	14	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49087243A>C	ENST00000261900.3	-	9	1976	c.1754T>G	c.(1753-1755)tTt>tGt	p.F585C		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	585	Ser-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|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)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TGGATGATCAAACACAGCCCC	0.453																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1753-1755)tTt>tGt		cyclin T1							80	82	82					12																	49087243		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087243A>C	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1754T>G	12.37:g.49087243A>C	ENSP00000261900:p.Phe585Cys		Somatic					p.F585C	NM_001240.3	NP_001231.2	WXS	Illumina GAIIx	Phase_I	O60563	CCNT1_HUMAN			9	1976	-			585			Ser-rich.		A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.1754T>G	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.309344	0.23821	.	.	ENSG00000129315	ENST00000261900	T	0.17370	2.28	4.96	1.12	0.20585	.	0.539636	0.21442	N	0.074472	T	0.08044	0.0201	N	0.14661	0.345	0.25239	N	0.989765	P	0.36495	0.556	B	0.36289	0.221	T	0.19549	-1.0302	10	0.39692	T	0.17	-6.5275	4.514	0.11926	0.3993:0.0:0.0937:0.507	.	585	O60563	CCNT1_HUMAN	C	585	ENSP00000261900:F585C	ENSP00000261900:F585C	F	-	2	0	CCNT1	47373510	1.000000	0.71417	0.981000	0.43875	0.938000	0.57974	2.993000	0.49425	0.826000	0.34661	0.459000	0.35465	TTT		0.453	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		30	49	0	0	0	1	0	30	49					C	49087243	A	C	49087243	3	2	48	1	0	0	0	0	1	0	0	0	2936	14	1	4	430	4	CCNT1	12	49087243	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1615710	49087243	84764652	2951	7419										
CCNT1	904	broad.mit.edu	37	chr12	49088048	49088048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taagttgctggatgactcttCggagactggcagggaaggca	15	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49088048C>T	ENST00000261900.3	-	9	1171	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	317					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|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)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GATGACTCTTCGGAGACTGGC	0.498																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(949-951)Gaa>Aaa		cyclin T1							112	102	106					12																	49088048		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49088048C>T	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.949G>A	12.37:g.49088048C>T	ENSP00000261900:p.Glu317Lys		Somatic					p.E317K	NM_001240.3	NP_001231.2	WXS	Illumina GAIIx	Phase_I	O60563	CCNT1_HUMAN			9	1171	-			317					A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.949G>A	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	C	6.482	0.457054	0.12283	.	.	ENSG00000129315	ENST00000261900	T	0.49720	0.77	5.49	5.49	0.81192	.	0.078040	0.49916	D	0.000133	T	0.23249	0.0562	N	0.08118	0	0.33794	D	0.62581	B	0.30193	0.272	B	0.18871	0.023	T	0.33420	-0.9869	10	0.13108	T	0.6	-4.2304	11.6038	0.51020	0.0:0.9168:0.0:0.0832	.	317	O60563	CCNT1_HUMAN	K	317	ENSP00000261900:E317K	ENSP00000261900:E317K	E	-	1	0	CCNT1	47374315	.	.	0.994000	0.49952	0.439000	0.31926	.	.	2.587000	0.87381	0.491000	0.48974	GAA		0.498	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		38	47	0	0	0	1	0	38	47					T	49088048	C	T	49088048	3	4	48	1	0	0	0	0	1	0	0	0	2936	893	31	1	1235	1	CCNT1	12	49088048	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	805	49088048	84763847	2952	7420										
CCNT1	904	broad.mit.edu	37	chr12	49089871	49089871	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggatctcccaattggaccacTtgcaagccaggtgaatgcag	11	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49089871T>G	ENST00000261900.3	-	7	839	c.617A>C	c.(616-618)aAg>aCg	p.K206T		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	206					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|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)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						ATTGGACCACTTGCAAGCCAG	0.502																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(616-618)aAg>aCg		cyclin T1							91	70	77					12																	49089871		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49089871T>G	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.617A>C	12.37:g.49089871T>G	ENSP00000261900:p.Lys206Thr		Somatic					p.K206T	NM_001240.3	NP_001231.2	WXS	Illumina GAIIx	Phase_I	O60563	CCNT1_HUMAN			7	839	-			206					A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.617A>C	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	t	25.3	4.619043	0.87460	.	.	ENSG00000129315	ENST00000261900	T	0.45276	0.9	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.59155	0.2173	M	0.87682	2.9	0.80722	D	1	P	0.42620	0.785	P	0.47299	0.543	T	0.67245	-0.5719	10	0.87932	D	0	-15.3888	15.0997	0.72266	0.0:0.0:0.0:1.0	.	206	O60563	CCNT1_HUMAN	T	206	ENSP00000261900:K206T	ENSP00000261900:K206T	K	-	2	0	CCNT1	47376138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.212000	0.71576	0.459000	0.35465	AAG		0.502	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		17	42	0	0	0	1	0	17	42					G	49089871	T	G	49089871	3	3	48	1	0	0	0	0	1	0	0	0	2936	1609	56	4	1575	4	CCNT1	12	49089871	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1823	49089871	84762024	2953	7421										
CCDC65	85478	broad.mit.edu	37	chr12	49315203	49315203	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacgtatagcccatccaggtGataaacaacatccaaccact	5	13	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49315203G>A	ENST00000320516.4	+	8	1620	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	478										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						CCATCCAGGTGATAAACAACA	0.413																																						ENST00000320516.4																			0				breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						c.(1432-1434)Gat>Aat		coiled-coil domain containing 65							87	80	82					12																	49315203		2203	4300	6503	SO:0001583	missense	85478							g.chr12:49315203G>A		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.1432G>A	12.37:g.49315203G>A	ENSP00000312706:p.Asp478Asn		Somatic				ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Intron	p.D478N	NM_033124.4	NP_149115.2	WXS	Illumina GAIIx	Phase_I	Q8IXS2	CCD65_HUMAN			8	1620	+			478					A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	SNP	ENST00000320516.4	37	c.1432G>A	CCDS8772.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249443	0.39797	.	.	ENSG00000139537	ENST00000320516	T	0.32515	1.45	5.56	2.71	0.32032	.	0.918116	0.09359	N	0.812972	T	0.24967	0.0606	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27297	-1.0078	9	.	.	.	.	10.851	0.46769	0.1911:0.0:0.8089:0.0	.	478	Q8IXS2	CCD65_HUMAN	N	478	ENSP00000312706:D478N	.	D	+	1	0	CCDC65	47601470	0.002000	0.14202	0.004000	0.12327	0.190000	0.23558	0.302000	0.19192	0.377000	0.24735	0.591000	0.81541	GAT		0.413	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		24	49	0	0	0	1	0	24	49					A	49315203	G	A	49315203	3	1	48	1	0	0	0	0	1	0	0	0	2839	1290	45	3	1462	3	CCDC65	12	49315203	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	225332	49315203	84536692	2954	7422										
MLL2	8085	broad.mit.edu	37	chr12	49432215	49432215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagggccagaggattggggCggccaagctcagtgctcgac	16	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49432215C>T	ENST00000301067.7	-	34	8923	c.8924G>A	c.(8923-8925)cGc>cAc	p.R2975H	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2975	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)										AGGATTGGGGCGGCCAAGCTC	0.582																																						ENST00000301067.7																			0											c.(8923-8925)cGc>cAc		lysine (K)-specific methyltransferase 2D							65	69	67					12																	49432215		1966	4138	6104	SO:0001583	missense	8085							g.chr12:49432215C>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.8924G>A	12.37:g.49432215C>T	ENSP00000301067:p.Arg2975His		Somatic					p.R2975H	NM_003482.3	NP_003473.3	WXS	Illumina GAIIx	Phase_I					34	8923	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.8924G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027302	0.35797	.	.	ENSG00000167548	ENST00000301067	T	0.79141	-1.24	5.73	5.73	0.89815	.	0.000000	0.38837	N	0.001560	T	0.74558	0.3732	N	0.14661	0.345	0.33455	D	0.584243	D	0.76494	0.999	P	0.57101	0.813	T	0.81722	-0.0803	10	0.87932	D	0	.	13.4164	0.60972	0.0:0.8427:0.1573:0.0	.	2975	O14686	MLL2_HUMAN	H	2975	ENSP00000301067:R2975H	ENSP00000301067:R2975H	R	-	2	0	MLL2	47718482	0.066000	0.20996	0.998000	0.56505	0.964000	0.63967	1.074000	0.30703	2.882000	0.98803	0.655000	0.94253	CGC		0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			13	90	0	0	0	1	0	13	90					T	49432215	C	T	49432215	3	4	48	1	0	0	0	0	1	0	0	0	9630	768	27	1	7773	1	MLL2	12	49432215	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	117012	49432215	84419680	2955	7423										
DHH	50846	broad.mit.edu	37	chr12	49484166	49484166	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcggccgccaaaacccagtCtccgcggtgcagttcccgca	10	17	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49484166C>A	ENST00000266991.2	-	3	973	c.667G>T	c.(667-669)Gac>Tac	p.D223Y	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	223					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						AAAACCCAGTCTCCGCGGTGC	0.677																																						ENST00000266991.2																			0				breast(1)|large_intestine(3)|lung(4)	8						c.(667-669)Gac>Tac		desert hedgehog							15	18	17					12																	49484166		2199	4291	6490	SO:0001583	missense	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49484166C>A	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"desert hedgehog (Drosophila) homolog"			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.667G>T	12.37:g.49484166C>A	ENSP00000266991:p.Asp223Tyr		Somatic				RP11-386G11.8_ENST00000553174.1_RNA	p.D223Y	NM_021044.2	NP_066382.1	WXS	Illumina GAIIx	Phase_I	O43323	DHH_HUMAN			3	973	-			223					Q15794	Missense_Mutation	SNP	ENST00000266991.2	37	c.667G>T	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050149	0.55218	.	.	ENSG00000139549	ENST00000266991	D	0.99607	-6.27	4.54	4.54	0.55810	Hedgehog/intein hint, N-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.046491	0.85682	D	0.000000	D	0.99616	0.9860	M	0.88704	2.975	0.54753	D	0.999988	D	0.76494	0.999	D	0.67900	0.954	D	0.97732	1.0203	10	0.87932	D	0	-6.4061	16.5904	0.84763	0.0:1.0:0.0:0.0	.	223	O43323	DHH_HUMAN	Y	223	ENSP00000266991:D223Y	ENSP00000266991:D223Y	D	-	1	0	DHH	47770433	0.852000	0.29690	0.945000	0.38365	0.906000	0.53458	1.944000	0.40263	2.542000	0.85734	0.561000	0.74099	GAC		0.677	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		5	14	1	0	0.217242	1	0.218251	5	14					A	49484166	C	A	49484166	3	1	48	1	0	0	0	0	1	0	0	0	4485	913	32	2	527	2	DHH	12	49484166	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	51951	49484166	84367729	2956	7424										
TROAP	10024	broad.mit.edu	37	chr12	49725173	49725173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accctgtggctacattactcGaatggcaggatgccctggtg	12	11	0	0	rs561170792		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49725173G>A	ENST00000257909.3	+	14	2351	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K	TROAP_ENST00000551245.1_Missense_Mutation_p.E849K|TROAP_ENST00000547923.1_Missense_Mutation_p.E438K	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	759					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TACATTACTCGAATGGCAGGA	0.642											OREG0021792	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	,	,		17849	0		0	False		,,,				2504	0.001					ENST00000551245.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(2545-2547)Gaa>Aaa		trophinin associated protein							50	48	49					12																	49725173		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49725173G>A	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"tastin"	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.2275G>A	12.37:g.49725173G>A	ENSP00000257909:p.Glu759Lys		Somatic	OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964	TROAP_ENST00000547923.1_Missense_Mutation_p.E438K|TROAP_ENST00000257909.3_Missense_Mutation_p.E759K	p.E849K			WXS	Illumina GAIIx	Phase_I	Q12815	TROAP_HUMAN			13	2656	+			350					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.2545G>A	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191162	0.78902	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	5.93	5.04	0.67666	.	0.201112	0.34245	N	0.004128	T	0.43211	0.1237	L	0.47190	1.495	0.33849	D	0.632448	D;D;P	0.56287	0.975;0.975;0.938	B;B;B	0.43386	0.418;0.344;0.327	T	0.62746	-0.6789	9	0.87932	D	0	-4.9004	11.1817	0.48631	0.0843:0.0:0.9157:0.0	.	849;438;759	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	K	849;759;438	.	ENSP00000257909:E759K	E	+	1	0	TROAP	48011440	0.999000	0.42202	0.847000	0.33407	0.985000	0.73830	3.780000	0.55386	1.522000	0.49001	0.561000	0.74099	GAA		0.642	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		24	55	0	0	0	1	0	24	55					A	49725173	G	A	49725173	3	1	48	1	0	0	0	0	1	0	0	0	16590	1059	37	1	2427	1	TROAP	12	49725173	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	241007	49725173	84126722	2957	7425										
RACGAP1	29127	broad.mit.edu	37	chr12	50410486	50410486	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagattccgcacattcagcaTcatagtatccatctttctgc	5	13	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:50410486T>G	ENST00000427314.2	-	4	236	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	RACGAP1_ENST00000434422.1_Missense_Mutation_p.M5L|RACGAP1_ENST00000312377.5_Missense_Mutation_p.M5L|RACGAP1_ENST00000547905.1_Missense_Mutation_p.M5L|RACGAP1_ENST00000454520.2_Missense_Mutation_p.M5L|RACGAP1_ENST00000551016.1_Missense_Mutation_p.M5L	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						ACATTCAGCATCATAGTATCC	0.463																																						ENST00000434422.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						c.(13-15)Atg>Ctg		Rac GTPase activating protein 1							127	136	133					12																	50410486		2203	4300	6503	SO:0001583	missense	29127				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding	g.chr12:50410486T>G		CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.13A>C	12.37:g.50410486T>G	ENSP00000404190:p.Met5Leu		Somatic				RACGAP1_ENST00000551016.1_Missense_Mutation_p.M5L|RACGAP1_ENST00000547905.1_Missense_Mutation_p.M5L|RACGAP1_ENST00000427314.2_Missense_Mutation_p.M5L|RACGAP1_ENST00000312377.5_Missense_Mutation_p.M5L|RACGAP1_ENST00000454520.2_Missense_Mutation_p.M5L	p.M5L			WXS	Illumina GAIIx	Phase_I	Q9H0H5	RGAP1_HUMAN			3	314	-			5						Missense_Mutation	SNP	ENST00000427314.2	37	c.13A>C	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	T	6.028	0.373576	0.11409	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000552310;ENST00000548824;ENST00000548644;ENST00000546723;ENST00000552921;ENST00000546764;ENST00000551876;ENST00000549777;ENST00000550651;ENST00000552004	T;T;T;T;T;T;T	0.68479	1.9;1.9;1.9;1.9;1.9;1.9;-0.33	5.96	5.96	0.96718	.	0.141236	0.64402	D	0.000001	T	0.47525	0.1450	L	0.27053	0.805	0.31077	N	0.712335	B	0.02656	0.0	B	0.01281	0.0	T	0.46345	-0.9198	10	0.10636	T	0.68	-6.0464	7.5749	0.27931	0.0:0.0729:0.1423:0.7848	.	5	Q9H0H5	RGAP1_HUMAN	L	5;5;5;5;5;5;5;5;17;5;5;5;5;5;5;5	ENSP00000404190:M5L;ENSP00000309871:M5L;ENSP00000413241:M5L;ENSP00000404808:M5L;ENSP00000449374:M5L;ENSP00000449370:M5L;ENSP00000449620:M17L	ENSP00000309871:M5L	M	-	1	0	RACGAP1	48696753	0.860000	0.29831	0.937000	0.37676	0.969000	0.65631	1.074000	0.30703	2.284000	0.76573	0.528000	0.53228	ATG		0.463	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1	NM_013277		49	90	0	0	0	1	0	49	90					G	50410486	T	G	50410486	3	3	48	1	0	0	0	0	1	0	0	0	12992	1435	50	4	1949	4	RACGAP1	12	50410486	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	685313	50410486	83441409	2958	7426										
LIMA1	51474	broad.mit.edu	37	chr12	50571158	50571158	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccctgtctctcctttagattCtttgttttgccaggttgttt	7	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:50571158C>A	ENST00000341247.4	-	11	2118	c.1969G>T	c.(1969-1971)Gaa>Taa	p.E657*	LIMA1_ENST00000547825.1_Nonsense_Mutation_p.E355*|LIMA1_ENST00000552783.1_Nonsense_Mutation_p.E498*|LIMA1_ENST00000552491.1_Nonsense_Mutation_p.E354*|LIMA1_ENST00000394943.3_Nonsense_Mutation_p.E658*|LIMA1_ENST00000552823.1_Nonsense_Mutation_p.E497*|LIMA1_ENST00000552909.1_Nonsense_Mutation_p.E496*	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	657					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CCTTTAGATTCTTTGTTTTGC	0.423																																						ENST00000547825.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						c.(1063-1065)Gaa>Taa		LIM domain and actin binding 1							302	304	304					12																	50571158		2203	4300	6503	SO:0001587	stop_gained	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50571158C>A	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1969G>T	12.37:g.50571158C>A	ENSP00000340184:p.Glu657*		Somatic				LIMA1_ENST00000552823.1_Nonsense_Mutation_p.E497*|LIMA1_ENST00000552909.1_Nonsense_Mutation_p.E496*|LIMA1_ENST00000552783.1_Nonsense_Mutation_p.E498*|LIMA1_ENST00000552491.1_Nonsense_Mutation_p.E354*|LIMA1_ENST00000394943.3_Nonsense_Mutation_p.E658*|LIMA1_ENST00000341247.4_Nonsense_Mutation_p.E657*	p.E355*	NM_001243775.1	NP_001230704.1	WXS	Illumina GAIIx	Phase_I	Q9UHB6	LIMA1_HUMAN			5	2332	-			657					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Nonsense_Mutation	SNP	ENST00000341247.4	37	c.1063G>T	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657742	0.67586	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	.	.	.	5.84	2.87	0.33458	.	0.787571	0.12252	N	0.485555	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	8.9836	0.35980	0.0:0.7434:0.123:0.1336	.	.	.	.	X	354;355;497;658;657;498;496;576	.	ENSP00000340184:E657X	E	-	1	0	LIMA1	48857425	0.975000	0.34042	0.016000	0.15963	0.371000	0.29859	3.648000	0.54410	0.939000	0.37446	0.650000	0.86243	GAA		0.423	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		89	190	1	0	3.62344e-47	1	5.25254e-47	89	190					A	50571158	C	A	50571158	4	1	48	1	0	0	0	0	0	1	0	0	8805	922	32	2	314	2	LIMA1	12	50571158	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	160672	50571158	83280737	2959	7427										
LARP4	113251	broad.mit.edu	37	chr12	50847289	50847289	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttgctaagaatggttatcGattaatggattctagtatct	8	4	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:50847289G>A	ENST00000398473.2	+	9	963	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	LARP4_ENST00000518444.1_Missense_Mutation_p.R283Q|LARP4_ENST00000429001.3_Missense_Mutation_p.R290Q|LARP4_ENST00000293618.8_Missense_Mutation_p.R284Q|LARP4_ENST00000518561.1_Missense_Mutation_p.R214Q|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000522085.1_Missense_Mutation_p.R284Q	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	284					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AATGGTTATCGATTAATGGAT	0.348																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(850-852)cGa>cAa		La ribonucleoprotein domain family, member 4							143	126	131					12																	50847289		1885	4105	5990	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50847289G>A	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.851G>A	12.37:g.50847289G>A	ENSP00000381490:p.Arg284Gln		Somatic				LARP4_ENST00000522085.1_Missense_Mutation_p.R284Q|LARP4_ENST00000293618.8_Missense_Mutation_p.R284Q|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000429001.3_Missense_Mutation_p.R290Q|LARP4_ENST00000518561.1_Missense_Mutation_p.R214Q|LARP4_ENST00000518444.1_Missense_Mutation_p.R283Q	p.R284Q	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	WXS	Illumina GAIIx	Phase_I	Q71RC2	LARP4_HUMAN			9	963	+			284					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.851G>A	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960680	0.92791	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000518561;ENST00000520064	T;T;T;T;T;T	0.62105	1.23;0.71;0.69;0.05;0.68;0.19	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.75679	0.3882	L	0.58428	1.81	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.966;0.995;0.995;0.963;0.976	T	0.79596	-0.1738	10	0.72032	D	0.01	.	16.7276	0.85427	0.0:0.0:1.0:0.0	.	185;283;284;284;290	Q71RC2-2;Q71RC2-3;G3XAA8;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	Q	284;290;284;284;284;283;214;185	ENSP00000293618:R284Q;ENSP00000415464:R290Q;ENSP00000381490:R284Q;ENSP00000429781:R284Q;ENSP00000429077:R283Q;ENSP00000430851:R214Q	ENSP00000293618:R284Q	R	+	2	0	LARP4	49133556	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.204000	0.95041	2.124000	0.65301	0.313000	0.20887	CGA		0.348	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		23	54	0	0	0	1	0	23	54					A	50847289	G	A	50847289	3	1	48	1	0	0	0	0	1	0	0	0	8639	1058	37	1	885	1	LARP4	12	50847289	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	276131	50847289	83004606	2960	7428										
SLC11A2	4891	broad.mit.edu	37	chr12	51399200	51399200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggtgaaagcccagagtttaCgaaagctaaaacaagagtac	10	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:51399200C>T	ENST00000262051.7	-	4	290	c.203G>A	c.(202-204)cGt>cAt	p.R68H	SLC11A2_ENST00000394904.3_Missense_Mutation_p.R97H|SLC11A2_ENST00000546743.1_5'UTR|SLC11A2_ENST00000541174.2_Missense_Mutation_p.R68H|SLC11A2_ENST00000547688.1_Missense_Mutation_p.R97H|SLC11A2_ENST00000549193.1_5'UTR|SLC11A2_ENST00000547198.1_Missense_Mutation_p.R68H|SLC11A2_ENST00000262052.5_Missense_Mutation_p.R68H|SLC11A2_ENST00000545993.2_Missense_Mutation_p.R64H	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	68					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.R68H(1)		breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CCAGAGTTTACGAAAGCTAAA	0.413																																						ENST00000394904.3																			1	Substitution - Missense(1)	p.R68H(1)	lung(1)	breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						c.(289-291)cGt>cAt		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2							84	78	80					12																	51399200		2203	4300	6503	SO:0001583	missense	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51399200C>T	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"Solute carriers"	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.203G>A	12.37:g.51399200C>T	ENSP00000262051:p.Arg68His		Somatic				SLC11A2_ENST00000262051.7_Missense_Mutation_p.R68H|SLC11A2_ENST00000262052.5_Missense_Mutation_p.R68H|SLC11A2_ENST00000546743.1_5'UTR|SLC11A2_ENST00000547198.1_Missense_Mutation_p.R68H|SLC11A2_ENST00000541174.2_Missense_Mutation_p.R68H|SLC11A2_ENST00000545993.2_Missense_Mutation_p.R64H|SLC11A2_ENST00000549193.1_5'UTR|SLC11A2_ENST00000547688.1_Missense_Mutation_p.R97H	p.R97H	NM_001174125.1	NP_001167596.1	WXS	Illumina GAIIx	Phase_I	P49281	NRAM2_HUMAN			4	339	-			68					B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Missense_Mutation	SNP	ENST00000262051.7	37	c.290G>A	CCDS53792.1	.	.	.	.	.	.	.	.	.	.	C	36	5.823073	0.96989	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000550714;ENST00000548193	T;T;T;T;T;T;T;T	0.54279	1.6;1.6;1.6;1.58;1.58;1.6;1.59;0.58	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.75744	0.3891	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D	0.76494	0.992;0.995;0.998;0.999;0.997	P;D;D;D;P	0.69142	0.756;0.931;0.962;0.957;0.815	T	0.77960	-0.2391	10	0.87932	D	0	-13.5634	19.2102	0.93751	0.0:1.0:0.0:0.0	.	31;64;97;68;68	B7Z9M2;F5H741;P49281-3;P49281-2;P49281	.;.;.;.;NRAM2_HUMAN	H	68;68;68;97;97;68;64;21;68	ENSP00000262051:R68H;ENSP00000446769:R68H;ENSP00000262052:R68H;ENSP00000378364:R97H;ENSP00000449200:R97H;ENSP00000444542:R68H;ENSP00000442810:R64H;ENSP00000449209:R68H	ENSP00000262051:R68H	R	-	2	0	SLC11A2	49685467	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.345000	0.79337	2.836000	0.97738	0.655000	0.94253	CGT		0.413	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			9	30	0	0	0	1	0	9	30					T	51399200	C	T	51399200	3	4	48	1	0	0	0	0	1	0	0	0	14396	536	19	1	1616	1	SLC11A2	12	51399200	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	551911	51399200	82452695	2961	7429										
LETMD1	25875	broad.mit.edu	37	chr12	51442897	51442897	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaccaagacaaaagcgattaAtgggaaataccatcgtttct	7	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:51442897A>C	ENST00000262055.4	+	2	242	c.203A>C	c.(202-204)aAt>aCt	p.N68T	LETMD1_ENST00000418425.2_Missense_Mutation_p.N68T|LETMD1_ENST00000547008.1_Missense_Mutation_p.N68T|LETMD1_ENST00000380123.2_Missense_Mutation_p.N68T|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000550929.1_Missense_Mutation_p.N12T|LETMD1_ENST00000552739.1_Intron	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	68	Required and sufficient for mitochondrial import.					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						AAAGCGATTAATGGGAAATAC	0.403																																						ENST00000418425.2																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.(202-204)aAt>aCt		LETM1 domain containing 1							128	113	118					12																	51442897		2203	4300	6503	SO:0001583	missense	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51442897A>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.203A>C	12.37:g.51442897A>C	ENSP00000262055:p.Asn68Thr		Somatic				LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000262055.4_Missense_Mutation_p.N68T|LETMD1_ENST00000380123.2_Missense_Mutation_p.N68T|LETMD1_ENST00000547008.1_Missense_Mutation_p.N68T|LETMD1_ENST00000550929.1_Missense_Mutation_p.N12T|LETMD1_ENST00000548516.1_3'UTR	p.N68T	NM_001243689.1	NP_001230618.1	WXS	Illumina GAIIx	Phase_I	Q6P1Q0	LTMD1_HUMAN			2	222	+			68			Required and sufficient for mitochondrial import.		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	c.203A>C	CCDS8806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.46|19.46	3.832028|3.832028	0.71258|0.71258	.|.	.|.	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	.|0.62639	.|0.94;0.96;0.92;0.45;0.07;0.35;0.65;0.01;0.43;0.9;0.73	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66096|0.66096	0.2755|0.2755	L|L	0.34521|0.34521	1.04|1.04	0.46564|0.46564	D|D	0.999106|0.999106	.|D;D;D;D;D;D	.|0.89917	.|1.0;0.996;1.0;1.0;0.996;1.0	.|D;D;D;D;D;D	.|0.87578	.|0.998;0.993;0.996;0.998;0.993;0.997	T|T	0.60000|0.60000	-0.7348|-0.7348	5|10	.|0.13853	.|T	.|0.58	-13.2876|-13.2876	12.466|12.466	0.55759|0.55759	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|68;68;68;68;68;68	.|B7Z9A7;F8VVQ3;B3KXK7;F8W6J0;F8W1Z2;Q6P1Q0	.|.;.;.;.;.;LTMD1_HUMAN	L|T	13|35;12;68;68;68;68;68;68;75;68;68;68	.|ENSP00000446862:N35T;ENSP00000450163:N12T;ENSP00000262055:N68T;ENSP00000448110:N68T;ENSP00000449896:N68T;ENSP00000450275:N68T;ENSP00000447166:N68T;ENSP00000369466:N68T;ENSP00000450082:N75T;ENSP00000389903:N68T;ENSP00000447419:N68T	.|ENSP00000262055:N68T	M|N	+|+	1|2	0|0	LETMD1|LETMD1	49729164|49729164	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.901000|0.901000	0.52897|0.52897	2.615000|2.615000	0.46368|0.46368	2.108000|2.108000	0.64289|0.64289	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.403	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		8	25	0	0	0	1	0	8	25					C	51442897	A	C	51442897	3	2	48	1	0	0	0	0	1	0	0	0	8745	101	4	4	209	4	LETMD1	12	51442897	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	43697	51442897	82408998	2962	7430										
BIN2	51411	broad.mit.edu	37	chr12	51695879	51695879	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccagtttctcctcgtagtcTtcccaaaggagatcattatt	7	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:51695879T>G	ENST00000267012.4	-	5	394	c.333A>C	c.(331-333)gaA>gaC	p.E111D	BIN2_ENST00000452142.2_Intron|BIN2_ENST00000604560.1_Missense_Mutation_p.E84D|BIN2_ENST00000544402.1_Missense_Mutation_p.E85D	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	111	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCTCGTAGTCTTCCCAAAGGA	0.463																																						ENST00000267012.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						c.(331-333)gaA>gaC		bridging integrator 2							111	93	99					12																	51695879		2203	4300	6503	SO:0001583	missense	51411					cytoplasm	protein binding	g.chr12:51695879T>G	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.333A>C	12.37:g.51695879T>G	ENSP00000267012:p.Glu111Asp		Somatic				BIN2_ENST00000452142.2_Intron|BIN2_ENST00000544402.1_Missense_Mutation_p.E85D|BIN2_ENST00000604560.1_Missense_Mutation_p.E84D	p.E111D	NM_016293.2	NP_057377.2	WXS	Illumina GAIIx	Phase_I	Q9UBW5	BIN2_HUMAN			5	394	-			111			BAR.		Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	c.333A>C	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	T	12.43	1.936635	0.34189	.	.	ENSG00000110934	ENST00000267012;ENST00000544402	T;T	0.60797	0.16;0.16	5.48	1.6	0.23607	BAR (3);	0.125814	0.53938	D	0.000060	T	0.27559	0.0677	N	0.05230	-0.09	0.27967	N	0.936562	B;B	0.29671	0.254;0.128	B;B	0.25987	0.039;0.065	T	0.09122	-1.0689	10	0.30854	T	0.27	-9.2457	3.9991	0.09572	0.2403:0.1536:0.0:0.6061	.	85;111	F5H0W4;Q9UBW5	.;BIN2_HUMAN	D	111;85	ENSP00000267012:E111D;ENSP00000445874:E85D	ENSP00000267012:E111D	E	-	3	2	BIN2	49982146	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	0.785000	0.26830	0.469000	0.27268	-0.400000	0.06385	GAA		0.463	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			4	36	0	0	0	1	0	4	36					G	51695879	T	G	51695879	3	3	48	1	0	0	0	0	1	0	0	0	1433	1606	56	4	1400	4	BIN2	12	51695879	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	252982	51695879	82156016	2963	7431										
SCN8A	6334	broad.mit.edu	37	chr12	52115650	52115650	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacggcgtggtgtccctcatCggcggccccggctcccacat	12	17	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:52115650C>T	ENST00000354534.6	+	12	2134	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	SCN8A_ENST00000550891.1_Silent_p.I652I|SCN8A_ENST00000545061.1_Silent_p.I652I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	652					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)	TGTCCCTCATCGGCGGCCCCG	0.622																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(1954-1956)atC>atT		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						41	47	45					12																	52115650		1966	4071	6037	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52115650C>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1956C>T	12.37:g.52115650C>T			Somatic				SCN8A_ENST00000550891.1_Silent_p.I652I|SCN8A_ENST00000545061.1_Silent_p.I652I	p.I652I	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)	12	2134	+			652					B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.1956C>T	CCDS44891.1																																																																																				0.622	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		27	34	0	0	0	1	0	27	34					T	52115650	C	T	52115650	2	4	48	1	0	0	0	0	0	0	0	1	13939	874	31	1		1	SCN8A	12	52115650	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	419771	52115650	81736245	2964	7432										
SCN8A	6334	broad.mit.edu	37	chr12	52183109	52183109	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacaatatctacatgtacatCtattttgtcatcttcatcat	3	9	6	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:52183109C>A	ENST00000354534.6	+	24	4504	c.4326C>A	c.(4324-4326)atC>atA	p.I1442I	SCN8A_ENST00000545061.1_Silent_p.I1401I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1442					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)	ACATGTACATCTATTTTGTCA	0.398																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(4324-4326)atC>atA		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						178	172	174					12																	52183109		2072	4243	6315	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52183109C>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.4326C>A	12.37:g.52183109C>A			Somatic				SCN8A_ENST00000545061.1_Silent_p.I1401I	p.I1442I	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)	24	4504	+			1442					B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.4326C>A	CCDS44891.1																																																																																				0.398	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		8	52	1	0	0.000157383	1	0.000169016	8	52					A	52183109	C	A	52183109	2	1	48	1	0	0	0	0	0	0	0	1	13939	903	32	2		2	SCN8A	12	52183109	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	67459	52183109	81668786	2965	7433										
KRT6C	286887	broad.mit.edu	37	chr12	52865252	52865252	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatctcatctgtgagagtgtCtgccttggcttgcagttcaa	11	9	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:52865252C>A	ENST00000252250.6	-	4	912	c.865G>T	c.(865-867)Gac>Tac	p.D289Y		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	289	Coil 1B.|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)		GTGAGAGTGTCTGCCTTGGCT	0.493																																						ENST00000252250.6																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(865-867)Gac>Tac		keratin 6C							159	142	148					12																	52865252		2203	4300	6503	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52865252C>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.865G>T	12.37:g.52865252C>A	ENSP00000252250:p.Asp289Tyr		Somatic					p.D289Y	NM_173086.4	NP_775109.2	WXS	Illumina GAIIx	Phase_I	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	4	912	-			289			Coil 1B.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.865G>T	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691572	0.68271	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.89810	-2.57	3.33	3.33	0.38152	Filament (1);	0.099704	0.43747	D	0.000535	D	0.95959	0.8684	H	0.97051	3.93	0.44432	D	0.997352	D	0.63046	0.992	D	0.66351	0.943	D	0.97598	1.0121	10	0.87932	D	0	.	15.1818	0.72965	0.0:1.0:0.0:0.0	.	289	P48668	K2C6C_HUMAN	Y	289;274	ENSP00000252250:D289Y	ENSP00000252250:D289Y	D	-	1	0	KRT6C	51151519	0.981000	0.34729	0.012000	0.15200	0.521000	0.34408	2.997000	0.49457	1.848000	0.53677	0.448000	0.29417	GAC		0.493	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		11	38	1	0	1.08611e-07	1	1.25818e-07	11	38					A	52865252	C	A	52865252	3	1	48	1	0	0	0	0	1	0	0	0	8491	913	32	2	853	2	KRT6C	12	52865252	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	682143	52865252	80986643	2966	7434										
KRT76	51350	broad.mit.edu	37	chr12	53167390	53167390	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgagccccacaaactcattCtctgcggcagtgcgtttgtt	9	12	2	1	rs148390412		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53167390C>A	ENST00000332411.2	-	3	905	c.852G>T	c.(850-852)gaG>gaT	p.E284D		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	284	Coil 1B.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.E284E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAAACTCATTCTCTGCGGCAG	0.498																																						ENST00000332411.2																			1	Substitution - coding silent(1)	p.E284E(1)	skin(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(850-852)gaG>gaT		keratin 76							151	122	132					12																	53167390		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53167390C>A	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.852G>T	12.37:g.53167390C>A	ENSP00000330101:p.Glu284Asp		Somatic					p.E284D	NM_015848.4	NP_056932.2	WXS	Illumina GAIIx	Phase_I	Q01546	K22O_HUMAN			3	905	-			284			Coil 1B.|Rod.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.852G>T	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645462	0.67358	.	.	ENSG00000185069	ENST00000332411	D	0.94330	-3.4	4.48	2.64	0.31445	Filament (1);	0.000000	0.44688	D	0.000432	D	0.96222	0.8768	M	0.86420	2.815	0.42457	D	0.992779	D	0.89917	1.0	D	0.97110	1.0	D	0.95215	0.8329	10	0.87932	D	0	.	8.3558	0.32329	0.0:0.7522:0.0:0.2478	.	284	Q01546	K22O_HUMAN	D	284	ENSP00000330101:E284D	ENSP00000330101:E284D	E	-	3	2	KRT76	51453657	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	1.204000	0.32296	0.593000	0.29745	0.557000	0.71058	GAG		0.498	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		25	42	1	0	5.45024e-15	1	7.15042e-15	25	42					A	53167390	C	A	53167390	3	1	48	1	0	0	0	0	1	0	0	0	8498	912	32	2	1092	2	KRT76	12	53167390	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	302138	53167390	80684505	2967	7435										
SP7	121340	broad.mit.edu	37	chr12	53722254	53722254	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagaagagccagttgcagacGaagggcctctcgcctgtgtg	14	11	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53722254G>A	ENST00000536324.2	-	3	1255	c.972C>T	c.(970-972)ttC>ttT	p.F324F	SP7_ENST00000537210.2_Silent_p.F306F|SP7_ENST00000303846.3_Silent_p.F324F	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	324					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|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)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						AGTTGCAGACGAAGGGCCTCT	0.617																																						ENST00000536324.2																			0				cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						c.(970-972)ttC>ttT		Sp7 transcription factor							53	60	58					12																	53722254		2203	4300	6503	SO:0001819	synonymous_variant	121340				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:53722254G>A	AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.972C>T	12.37:g.53722254G>A			Somatic				SP7_ENST00000303846.3_Silent_p.F324F|SP7_ENST00000537210.2_Silent_p.F306F	p.F324F	NM_001173467.1	NP_001166938.1	WXS	Illumina GAIIx	Phase_I	Q8TDD2	SP7_HUMAN			3	1255	-			324					B3KY26|Q3MJ72|Q7Z718	Silent	SNP	ENST00000536324.2	37	c.972C>T	CCDS44897.1																																																																																				0.617	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1			43	57	0	0	0	1	0	43	57					A	53722254	G	A	53722254	2	1	48	1	0	0	0	0	0	0	0	1	14984	1049	37	1		1	SP7	12	53722254	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	554864	53722254	80129641	2968	7436										
SP7	121340	broad.mit.edu	37	chr12	53722395	53722395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgctcccagccgctctagCtcctggcaattagggcagtc	11	15	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53722395C>T	ENST00000536324.2	-	3	1114	c.831G>A	c.(829-831)gaG>gaA	p.E277E	SP7_ENST00000537210.2_Silent_p.E259E|SP7_ENST00000303846.3_Silent_p.E277E	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	277					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|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)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GCCGCTCTAGCTCCTGGCAAT	0.662																																						ENST00000536324.2																			0				cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						c.(829-831)gaG>gaA		Sp7 transcription factor							22	26	25					12																	53722395		2112	4233	6345	SO:0001819	synonymous_variant	121340				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:53722395C>T	AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.831G>A	12.37:g.53722395C>T			Somatic				SP7_ENST00000303846.3_Silent_p.E277E|SP7_ENST00000537210.2_Silent_p.E259E	p.E277E	NM_001173467.1	NP_001166938.1	WXS	Illumina GAIIx	Phase_I	Q8TDD2	SP7_HUMAN			3	1114	-			277					B3KY26|Q3MJ72|Q7Z718	Silent	SNP	ENST00000536324.2	37	c.831G>A	CCDS44897.1																																																																																				0.662	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1			12	29	0	0	0	1	0	12	29					T	53722395	C	T	53722395	2	4	48	1	0	0	0	0	0	0	0	1	14984	796	28	3		3	SP7	12	53722395	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	141	53722395	80129500	2969	7437										
SP1	6667	broad.mit.edu	37	chr12	53777010	53777010	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtcagggcagacctttacaActcaagccatctcccaggaa	8	13	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53777010A>C	ENST00000327443.4	+	3	1377	c.1279A>C	c.(1279-1281)Act>Cct	p.T427P	SP1_ENST00000426431.2_Missense_Mutation_p.T420P	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	427	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)		GACCTTTACAACTCAAGCCAT	0.557																																						ENST00000426431.2																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(1258-1260)Act>Cct		Sp1 transcription factor							91	99	96					12																	53777010		2203	4300	6503	SO:0001583	missense	0				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53777010A>C	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.1279A>C	12.37:g.53777010A>C	ENSP00000329357:p.Thr427Pro		Somatic				SP1_ENST00000327443.4_Missense_Mutation_p.T427P	p.T420P	NM_003109.1	NP_003100.1	WXS	Illumina GAIIx	Phase_I	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	3	1318	+			427			Transactivation domain B (Gln-rich).		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	ENST00000327443.4	37	c.1258A>C	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.450107	0.43531	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.08370	3.14;3.1	4.47	4.47	0.54385	.	0.000000	0.56097	D	0.000035	T	0.12603	0.0306	L	0.40543	1.245	0.51767	D	0.999932	D	0.61080	0.989	P	0.50825	0.651	T	0.02539	-1.1144	10	0.45353	T	0.12	.	13.1662	0.59573	1.0:0.0:0.0:0.0	.	427	P08047	SP1_HUMAN	P	427;420	ENSP00000329357:T427P;ENSP00000404263:T420P	ENSP00000329357:T427P	T	+	1	0	SP1	52063277	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.768000	0.55295	2.010000	0.58986	0.383000	0.25322	ACT		0.557	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			50	87	0	0	0	1	0	50	87					C	53777010	A	C	53777010	3	2	48	1	0	0	0	0	1	0	0	0	14974	43	2	4	1289	4	SP1	12	53777010	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	54615	53777010	80074885	2970	7438										
NPFF	8620	broad.mit.edu	37	chr12	53901163	53901163	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggacacacactcaccgcggaGagctggtcttcctgctggcc	12	15	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53901163G>T	ENST00000267017.3	-	1	259	c.96C>A	c.(94-96)ctC>ctA	p.L32L	RP11-793H13.10_ENST00000591834.1_Intron|NPFF_ENST00000609999.1_5'UTR	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	32					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						TCACCGCGGAGAGCTGGTCTT	0.567																																						ENST00000267017.3																			0				haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						c.(94-96)ctC>ctA		neuropeptide FF-amide peptide precursor							132	123	126					12																	53901163		2203	4300	6503	SO:0001819	synonymous_variant	8620				neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr12:53901163G>T	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"Endogenous ligands"	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856	ENST00000267017.3:c.96C>A	12.37:g.53901163G>T			Somatic				RP11-793H13.10_ENST00000591834.1_Intron	p.L32L	NM_003717.2	NP_003708.1	WXS	Illumina GAIIx	Phase_I	O15130	NPFF_HUMAN			1	259	-			32					Q3SXL4	Silent	SNP	ENST00000267017.3	37	c.96C>A	CCDS8862.1																																																																																				0.567	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		34	54	1	0	1.36615e-20	1	1.87316e-20	34	54					T	53901163	G	T	53901163	2	4	48	1	0	0	0	0	0	0	0	1	10585	929	33	2		2	NPFF	12	53901163	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	124153	53901163	79950732	2971	7439										
CALCOCO1	57658	broad.mit.edu	37	chr12	54110096	54110096	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcatctgggccaccttgtctTtcagtcgctgagcctgagca	10	13	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:54110096T>C	ENST00000550804.1	-	8	1013	c.953A>G	c.(952-954)aAa>aGa	p.K318R	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.K318R|CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.K318R			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	318					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CACCTTGTCTTTCAGTCGCTG	0.572																																						ENST00000548263.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(952-954)aAa>aGa		calcium binding and coiled-coil domain 1							103	87	93					12																	54110096		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.chr12:54110096T>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.953A>G	12.37:g.54110096T>C	ENSP00000449960:p.Lys318Arg		Somatic				CALCOCO1_ENST00000262059.4_Missense_Mutation_p.K318R|CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.K318R	p.K318R			WXS	Illumina GAIIx	Phase_I	Q9P1Z2	CACO1_HUMAN			8	1001	-			318					B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.953A>G	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.745078	0.30865	.	.	ENSG00000012822	ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000454332	T;T;T	0.12569	2.67;2.67;2.67	4.78	4.78	0.61160	.	0.000000	0.48286	D	0.000196	T	0.13970	0.0338	N	0.25890	0.77	0.36196	D	0.850401	P;P;P;P	0.51449	0.945;0.872;0.872;0.895	P;P;P;P	0.50049	0.629;0.495;0.495;0.629	T	0.17228	-1.0376	10	0.26408	T	0.33	-37.1984	10.921	0.47165	0.0:0.0:0.0:1.0	.	311;318;318;318	B4DG60;Q9P1Z2-3;Q9P1Z2-2;Q9P1Z2	.;.;.;CACO1_HUMAN	R	318;256;318;318;311;195	ENSP00000262059:K318R;ENSP00000447647:K318R;ENSP00000449960:K318R	ENSP00000262059:K318R	K	-	2	0	CALCOCO1	52396363	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	4.060000	0.57477	2.145000	0.66743	0.533000	0.62120	AAA		0.572	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		37	52	0	0	0	1	0	37	52					C	54110096	T	C	54110096	3	2	48	1	0	0	0	0	1	0	0	0	2579	1841	64	4	1154	4	CALCOCO1	12	54110096	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	208933	54110096	79741799	2972	7440										
CALCOCO1	57658	broad.mit.edu	37	chr12	54115392	54115392	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgatctccccatgggaccggGaaatcccctgaaattaagtt	9	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:54115392G>T	ENST00000550804.1	-	6	677	c.617C>A	c.(616-618)tCc>tAc	p.S206Y	CALCOCO1_ENST00000547885.1_5'Flank|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.S206Y|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.S173Y|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.S206Y			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	206					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						ATGGGACCGGGAAATCCCCTG	0.542																																						ENST00000548263.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(616-618)tCc>tAc		calcium binding and coiled-coil domain 1							240	235	237					12																	54115392		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.chr12:54115392G>T	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.617C>A	12.37:g.54115392G>T	ENSP00000449960:p.Ser206Tyr		Somatic				CALCOCO1_ENST00000262059.4_Missense_Mutation_p.S206Y|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.S173Y|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.S206Y	p.S206Y			WXS	Illumina GAIIx	Phase_I	Q9P1Z2	CACO1_HUMAN			6	665	-			206					B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.617C>A	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569108	0.65765	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000454332	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	5.0	5.0	0.66597	.	0.179894	0.27402	N	0.019523	T	0.11623	0.0283	N	0.22421	0.69	0.36758	D	0.883112	P;B;B;B;B;B	0.43938	0.822;0.268;0.25;0.429;0.268;0.295	B;B;B;B;P;B	0.44732	0.378;0.361;0.173;0.421;0.459;0.266	T	0.10291	-1.0636	10	0.66056	D	0.02	-6.2025	15.6131	0.76744	0.0:0.0:1.0:0.0	.	199;173;206;206;173;206	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2	.;.;.;.;.;CACO1_HUMAN	Y	173;206;144;206;206;199;83	ENSP00000397189:S173Y;ENSP00000262059:S206Y;ENSP00000447647:S206Y;ENSP00000449960:S206Y	ENSP00000262059:S206Y	S	-	2	0	CALCOCO1	52401659	1.000000	0.71417	0.995000	0.50966	0.651000	0.38670	4.126000	0.57937	2.482000	0.83794	0.563000	0.77884	TCC		0.542	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		7	327	1	0	0.00198382	1	0.00207034	7	327					T	54115392	G	T	54115392	3	4	48	1	0	0	0	0	1	0	0	0	2579	1174	41	2	1498	2	CALCOCO1	12	54115392	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5296	54115392	79736503	2973	7441										
CBX5	23468	broad.mit.edu	37	chr12	54645982	54645982	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttagctcagggcaatccaagTttttctcaggttcccaagta	8	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:54645982T>C	ENST00000439541.2	-	3	292	c.167A>G	c.(166-168)aAc>aGc	p.N56S	CBX5_ENST00000209875.4_Missense_Mutation_p.N56S|CBX5_ENST00000550411.1_Missense_Mutation_p.N56S	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	56	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				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						GCAATCCAAGTTTTTCTCAGG	0.368																																					Colon(153;588 2459 18334 48613)	ENST00000209875.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						c.(166-168)aAc>aGc		chromobox homolog 5							63	67	65					12																	54645982		2203	4300	6503	SO:0001583	missense	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.chr12:54645982T>C	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.167A>G	12.37:g.54645982T>C	ENSP00000401009:p.Asn56Ser		Somatic				CBX5_ENST00000439541.2_Missense_Mutation_p.N56S|CBX5_ENST00000550411.1_Missense_Mutation_p.N56S	p.N56S	NM_012117.2	NP_036249.1	WXS	Illumina GAIIx	Phase_I	P45973	CBX5_HUMAN			3	303	-			56			Chromo 1.		B2R8T9	Missense_Mutation	SNP	ENST00000439541.2	37	c.167A>G	CCDS8875.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575180	0.86542	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411;ENST00000552562	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.22	5.22	0.72569	Chromo domain (1);Chromo domain subgroup (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88005	0.6321	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	0.974;1.0	D;D	0.97110	0.953;1.0	D	0.90207	0.4261	10	0.87932	D	0	-21.3997	13.3969	0.60858	0.0:0.0:0.0:1.0	.	56;56	G3V1X9;P45973	.;CBX5_HUMAN	S	56	ENSP00000209875:N56S;ENSP00000401009:N56S;ENSP00000449207:N56S;ENSP00000450190:N56S	ENSP00000209875:N56S	N	-	2	0	CBX5	52932249	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.570000	0.82390	2.333000	0.79357	0.533000	0.62120	AAC		0.368	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117		16	27	0	0	0	1	0	16	27					C	54645982	T	C	54645982	3	2	48	1	0	0	0	0	1	0	0	0	2723	1725	60	4	420	4	CBX5	12	54645982	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	530590	54645982	79205913	2974	7442										
PDE1B	5153	broad.mit.edu	37	chr12	54963137	54963137	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcacgctgtgcaggctgggAtcttcgtggaacggtgaggc	17	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:54963137A>G	ENST00000243052.3	+	4	833	c.397A>G	c.(397-399)Atc>Gtc	p.I133V	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.I92V|PDE1B_ENST00000550620.1_Missense_Mutation_p.I113V	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	133					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)	GCAGGCTGGGATCTTCGTGGA	0.637																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(397-399)Atc>Gtc		phosphodiesterase 1B, calmodulin-dependent							52	53	52					12																	54963137		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54963137A>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.397A>G	12.37:g.54963137A>G	ENSP00000243052:p.Ile133Val		Somatic				PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.I92V|PDE1B_ENST00000550620.1_Missense_Mutation_p.I113V	p.I133V	NM_000924.3	NP_000915.1	WXS	Illumina GAIIx	Phase_I	Q01064	PDE1B_HUMAN			4	833	+			133					Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.397A>G	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294309	0.81025	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.70631	-0.5;-0.46;-0.47	5.21	5.21	0.72293	-cyclic nucleotide phosphodiesterase N-terminal (1);5&apos (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.81754	0.4889	M	0.69248	2.105	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	T	0.82581	-0.0386	10	0.51188	T	0.08	.	13.3537	0.60615	1.0:0.0:0.0:0.0	.	113;133	Q01064-2;Q01064	.;PDE1B_HUMAN	V	133;92;113	ENSP00000243052:I133V;ENSP00000442559:I92V;ENSP00000448519:I113V	ENSP00000243052:I133V	I	+	1	0	PDE1B	53249404	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.011000	0.93618	2.105000	0.64084	0.533000	0.62120	ATC		0.637	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			20	38	0	0	0	1	0	20	38					G	54963137	A	G	54963137	3	3	48	1	0	0	0	0	1	0	0	0	11643	333	12	4	464	4	PDE1B	12	54963137	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	317155	54963137	78888758	2975	7443										
LACRT	90070	broad.mit.edu	37	chr12	55026990	55026990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagcttcctgggcaggatcaGcacccgtcgagtcagaggag	14	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:55026990G>A	ENST00000257867.4	-	2	139	c.86C>T	c.(85-87)gCt>gTt	p.A29V	LACRT_ENST00000547511.1_Missense_Mutation_p.A29V	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	29					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						GGCAGGATCAGCACCCGTCGA	0.597																																						ENST00000257867.4																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						c.(85-87)gCt>gTt		lacritin							173	157	163					12																	55026990		2203	4300	6503	SO:0001583	missense	90070				calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding	g.chr12:55026990G>A	AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.86C>T	12.37:g.55026990G>A	ENSP00000257867:p.Ala29Val		Somatic				LACRT_ENST00000547511.1_Missense_Mutation_p.A29V	p.A29V	NM_033277.1	NP_150593.1	WXS	Illumina GAIIx	Phase_I	Q9GZZ8	LACRT_HUMAN			2	139	-			29						Missense_Mutation	SNP	ENST00000257867.4	37	c.86C>T	CCDS8883.1	.	.	.	.	.	.	.	.	.	.	G	8.166	0.790541	0.16258	.	.	ENSG00000135413	ENST00000547511;ENST00000257867	.	.	.	1.7	-2.25	0.06888	.	.	.	.	.	T	0.11750	0.0286	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25187	-1.0139	7	.	.	.	.	2.0805	0.03634	0.3612:0.0:0.3871:0.2516	.	29	Q9GZZ8	LACRT_HUMAN	V	29	.	.	A	-	2	0	LACRT	53313257	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.600000	0.05693	-0.643000	0.05473	-1.008000	0.02478	GCT		0.597	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406615.1	NM_033277		64	108	0	0	0	1	0	64	108					A	55026990	G	A	55026990	3	1	48	1	0	0	0	0	1	0	0	0	8605	971	34	3	346	3	LACRT	12	55026990	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	63853	55026990	78824905	2976	7444										
KIAA0748	9840	broad.mit.edu	37	chr12	55356262	55356262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgctggcttaaagaccgacGcagttctggtctgtctacac	10	12	3	1	rs533904016	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:55356262G>A	ENST00000449076.1	-	9	1552	c.1420C>T	c.(1420-1422)Cgt>Tgt	p.R474C	TESPA1_ENST00000531122.1_Missense_Mutation_p.R336C|TESPA1_ENST00000532804.1_Missense_Mutation_p.R336C|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000316577.8_Missense_Mutation_p.R474C|TESPA1_ENST00000524622.1_Missense_Mutation_p.R336C	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	474					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)											AAAGACCGACGCAGTTCTGGT	0.517													G|||	2	0.000399361	0.0015	0	5008	,	,		18925	0		0	False		,,,				2504	0					ENST00000524622.1																			0											c.(1006-1008)Cgt>Tgt		thymocyte expressed, positive selection associated 1							170	172	171					12																	55356262		1949	4162	6111	SO:0001583	missense	9840							g.chr12:55356262G>A	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.1420C>T	12.37:g.55356262G>A	ENSP00000400892:p.Arg474Cys		Somatic				TESPA1_ENST00000316577.8_Missense_Mutation_p.R474C|TESPA1_ENST00000532804.1_Missense_Mutation_p.R336C|TESPA1_ENST00000449076.1_Missense_Mutation_p.R474C|TESPA1_ENST00000531122.1_Missense_Mutation_p.R336C	p.R336C	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	WXS	Illumina GAIIx	Phase_I	A2RU30	K0748_HUMAN			7	1667	-			474					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.1006C>T	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	G	9.822	1.185930	0.21870	.	.	ENSG00000135426	ENST00000524622;ENST00000528240;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.47869	0.83;0.83;0.84;0.84;0.83	4.42	2.59	0.31030	.	1.125660	0.06567	N	0.747728	T	0.31857	0.0810	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.28170	-1.0052	10	0.87932	D	0	-0.49	6.8312	0.23911	0.2069:0.0:0.7931:0.0	.	474	A2RU30	K0748_HUMAN	C	336;74;336;474;474;336	ENSP00000435622:R336C;ENSP00000432030:R336C;ENSP00000400892:R474C;ENSP00000312679:R474C;ENSP00000433098:R336C	ENSP00000312679:R474C	R	-	1	0	KIAA0748	53642529	0.001000	0.12720	0.001000	0.08648	0.038000	0.13279	0.835000	0.27531	0.799000	0.34018	0.655000	0.94253	CGT		0.517	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		55	119	0	0	0	1	0	55	119					A	55356262	G	A	55356262	3	1	48	1	0	0	0	0	1	0	0	0	8199	1087	38	1	153	1	KIAA0748	12	55356262	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	329272	55356262	78495633	2977	7445										
OR6C70	390327	broad.mit.edu	37	chr12	55863898	55863898	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagtcccagaagaataaattCtatctgccttgtatgattct	6	9	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:55863898C>A	ENST00000327335.4	-	1	24	c.25G>T	c.(25-27)Gaa>Taa	p.E9*	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	9						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)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						AGAATAAATTCTATCTGCCTT	0.353																																						ENST00000327335.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						c.(25-27)Gaa>Taa		olfactory receptor, family 6, subfamily C, member 70							50	52	51					12																	55863898		2195	4279	6474	SO:0001587	stop_gained	390327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55863898C>A		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"GPCR / Class A : Olfactory receptors"	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.25G>T	12.37:g.55863898C>A	ENSP00000329153:p.Glu9*		Somatic				RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	p.E9*	NM_001005499.1	NP_001005499.1	WXS	Illumina GAIIx	Phase_I	A6NIJ9	O6C70_HUMAN			1	24	-			9						Nonsense_Mutation	SNP	ENST00000327335.4	37	c.25G>T	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635059	0.87760	.	.	ENSG00000184954	ENST00000327335	.	.	.	3.74	1.88	0.25563	.	0.273856	0.25439	N	0.030675	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	9.577	0.39463	0.0:0.8213:0.0:0.1787	.	.	.	.	X	9	.	ENSP00000329153:E9X	E	-	1	0	OR6C70	54150165	0.000000	0.05858	0.623000	0.29173	0.992000	0.81027	-0.135000	0.10420	0.382000	0.24878	0.552000	0.68991	GAA		0.353	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1			15	27	1	0	1.99824e-07	1	2.29918e-07	15	27					A	55863898	C	A	55863898	4	1	48	1	0	0	0	0	0	1	0	0	11206	922	32	2	915	2	OR6C70	12	55863898	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	507636	55863898	77987997	2978	7446										
OR10P1	121130	broad.mit.edu	37	chr12	56031002	56031002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacgtcttcattgtcctgggCatctcggagtgctgcctgct	11	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56031002C>T	ENST00000309675.2	+	1	359	c.327C>T	c.(325-327)ggC>ggT	p.G109G	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	109						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						TTGTCCTGGGCATCTCGGAGT	0.617																																						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.(325-327)ggC>ggT		olfactory receptor, family 10, subfamily P, member 1							83	72	76					12																	56031002		2203	4300	6503	SO:0001819	synonymous_variant	121130				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:56031002C>T	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.327C>T	12.37:g.56031002C>T			Somatic					p.G109G	NM_206899.1	NP_996782.1	WXS	Illumina GAIIx	Phase_I	Q8NGE3	O10P1_HUMAN			1	359	+			109					B9EGY4	Silent	SNP	ENST00000309675.2	37	c.327C>T	CCDS31828.1																																																																																				0.617	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			19	40	0	0	0	1	0	19	40					T	56031002	C	T	56031002	2	4	48	1	0	0	0	0	0	0	0	1	10924	697	25	3		3	OR10P1	12	56031002	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	167104	56031002	77820893	2979	7447										
OR10P1	121130	broad.mit.edu	37	chr12	56031269	56031269	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggaagcacaggagcgagatCtccgtgatgacagccaccat	13	11	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56031269C>A	ENST00000309675.2	+	1	626	c.594C>A	c.(592-594)atC>atA	p.I198I	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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						GGAGCGAGATCTCCGTGATGA	0.537																																						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.(592-594)atC>atA		olfactory receptor, family 10, subfamily P, member 1							123	97	106					12																	56031269		2203	4300	6503	SO:0001819	synonymous_variant	121130				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:56031269C>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.594C>A	12.37:g.56031269C>A			Somatic					p.I198I	NM_206899.1	NP_996782.1	WXS	Illumina GAIIx	Phase_I	Q8NGE3	O10P1_HUMAN			1	626	+			198					B9EGY4	Silent	SNP	ENST00000309675.2	37	c.594C>A	CCDS31828.1																																																																																				0.537	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			52	79	1	0	1.07234e-20	1	1.47176e-20	52	79					A	56031269	C	A	56031269	2	1	48	1	0	0	0	0	0	0	0	1	10924	903	32	2		2	OR10P1	12	56031269	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	267	56031269	77820626	2980	7448										
GDF11	10220	broad.mit.edu	37	chr12	56143605	56143605	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catgctctacttcaatgacaAgcagcagattatctacggca	7	11	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56143605A>G	ENST00000257868.5	+	3	1200	c.1163A>G	c.(1162-1164)aAg>aGg	p.K388R		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	388					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						TTCAATGACAAGCAGCAGATT	0.557																																						ENST00000257868.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(1162-1164)aAg>aGg		growth differentiation factor 11							176	166	169					12																	56143605		2203	4300	6503	SO:0001583	missense	0				growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:56143605A>G	AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.1163A>G	12.37:g.56143605A>G	ENSP00000257868:p.Lys388Arg		Somatic					p.K388R	NM_005811.3	NP_005802.1	WXS	Illumina GAIIx	Phase_I	O95390	GDF11_HUMAN			3	1200	+			388					Q9UID1|Q9UID2	Missense_Mutation	SNP	ENST00000257868.5	37	c.1163A>G	CCDS8891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.30|13.30	2.195139|2.195139	0.38806|0.38806	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000257868|ENST00000546799	T|.	0.69926|.	-0.44|.	5.3|5.3	5.3|5.3	0.74995|0.74995	Transforming growth factor-beta, C-terminal (3);|.	0.101413|.	0.64402|.	D|.	0.000004|.	T|T	0.41903|0.41903	0.1179|0.1179	N|N	0.13140|0.13140	0.3|0.3	0.58432|0.58432	D|D	0.999992|0.999992	B|.	0.15473|.	0.013|.	B|.	0.17098|.	0.017|.	T|T	0.33033|0.33033	-0.9884|-0.9884	10|5	0.14252|.	T|.	0.57|.	-14.5954|-14.5954	13.5105|13.5105	0.61508|0.61508	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	388|.	O95390|.	GDF11_HUMAN|.	R|G	388|361	ENSP00000257868:K388R|.	ENSP00000257868:K388R|.	K|S	+|+	2|1	0|0	GDF11|GDF11	54429872|54429872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.339000|9.339000	0.96797|0.96797	2.137000|2.137000	0.66172|0.66172	0.459000|0.459000	0.35465|0.35465	AAG|AGC		0.557	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3			20	182	0	0	0	1	0	20	182					G	56143605	A	G	56143605	3	3	48	1	0	0	0	0	1	0	0	0	6320	72	3	4	1173	4	GDF11	12	56143605	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	112336	56143605	77708290	2981	7449										
DGKA	1606	broad.mit.edu	37	chr12	56331252	56331252	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atctcgaagtggataatgttCccagacacctaagcctggca	9	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56331252C>A	ENST00000331886.5	+	4	653	c.199C>A	c.(199-201)Ccc>Acc	p.P67T	DGKA_ENST00000394147.1_Missense_Mutation_p.P67T|DGKA_ENST00000551156.1_Missense_Mutation_p.P67T	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	67					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GGATAATGTTCCCAGACACCT	0.463																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(199-201)Ccc>Acc		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						151	137	141					12																	56331252		2203	4300	6503	SO:0001583	missense	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56331252C>A	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.199C>A	12.37:g.56331252C>A	ENSP00000328405:p.Pro67Thr		Somatic				DGKA_ENST00000394147.1_Missense_Mutation_p.P67T|DGKA_ENST00000551156.1_Missense_Mutation_p.P67T	p.P67T	NM_001345.4	NP_001336.2	WXS	Illumina GAIIx	Phase_I	P23743	DGKA_HUMAN			4	653	+			67					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	c.199C>A	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555397	0.65425	.	.	ENSG00000065357	ENST00000331886;ENST00000549368;ENST00000394147;ENST00000551156;ENST00000553783;ENST00000432422;ENST00000556001;ENST00000551707	T;T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	4.43	4.43	0.53597	.	0.117022	0.64402	D	0.000018	D	0.82600	0.5072	M	0.62723	1.935	0.51767	D	0.999933	D;D;P	0.69078	0.997;0.98;0.706	D;P;P	0.79784	0.993;0.697;0.554	T	0.82121	-0.0614	9	.	.	.	.	12.7474	0.57289	0.0:1.0:0.0:0.0	.	67;67;67	Q3ZE25;B4E0C6;P23743	.;.;DGKA_HUMAN	T	67	ENSP00000328405:P67T;ENSP00000447050:P67T;ENSP00000377703:P67T;ENSP00000450359:P67T;ENSP00000450999:P67T;ENSP00000402307:P67T;ENSP00000451266:P67T;ENSP00000447460:P67T	.	P	+	1	0	DGKA	54617519	1.000000	0.71417	0.683000	0.30040	0.397000	0.30659	4.208000	0.58486	2.469000	0.83416	0.462000	0.41574	CCC		0.463	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			7	84	1	0	0.000157383	1	0.000169016	7	84					A	56331252	C	A	56331252	3	1	48	1	0	0	0	0	1	0	0	0	4467	855	30	2	209	2	DGKA	12	56331252	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	187647	56331252	77520643	2982	7450										
MYL6	4637	broad.mit.edu	37	chr12	56554045	56554045	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggtgagaagatgacagaggAagaagtagagatgctggtgg	18	2	0	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56554045A>G	ENST00000550697.1	+	5	609	c.368A>G	c.(367-369)gAa>gGa	p.E123G	MYL6_ENST00000549566.1_Missense_Mutation_p.E168G|MYL6_ENST00000548400.1_Missense_Mutation_p.E87G|MYL6_ENST00000536128.1_Missense_Mutation_p.E216G|MYL6_ENST00000348108.4_Missense_Mutation_p.E124G|MYL6_ENST00000551589.1_Missense_Mutation_p.E123G|MYL6_ENST00000548293.1_Missense_Mutation_p.E123G|MYL6_ENST00000547408.1_Missense_Mutation_p.E123G|MYL6_ENST00000293422.5_Missense_Mutation_p.E124G|MYL6_ENST00000548580.1_Missense_Mutation_p.E75G|MYL6_ENST00000549017.1_Missense_Mutation_p.E19G|RP11-977G19.5_ENST00000553176.1_RNA|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000547649.1_Missense_Mutation_p.E123G	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	123	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)			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			ATGACAGAGGAAGAAGTAGAG	0.488																																						ENST00000551589.1																			0				large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7						c.(367-369)gAa>gGa		myosin, light chain 6, alkali, smooth muscle and non-muscle							80	71	74					12																	56554045		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.chr12:56554045A>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.368A>G	12.37:g.56554045A>G	ENSP00000446955:p.Glu123Gly		Somatic				MYL6_ENST00000547408.1_Missense_Mutation_p.E123G|MYL6_ENST00000550697.1_Missense_Mutation_p.E123G|MYL6_ENST00000547649.1_Missense_Mutation_p.E123G|MYL6_ENST00000536128.1_Missense_Mutation_p.E216G|MYL6_ENST00000549566.1_Missense_Mutation_p.E168G|MYL6_ENST00000293422.5_Missense_Mutation_p.E124G|MYL6_ENST00000548580.1_Missense_Mutation_p.E75G|MYL6_ENST00000548293.1_Missense_Mutation_p.E123G|MYL6_ENST00000548400.1_Missense_Mutation_p.E87G|MYL6_ENST00000549017.1_Missense_Mutation_p.E19G|MYL6_ENST00000348108.4_Missense_Mutation_p.E124G	p.E123G			WXS	Illumina GAIIx	Phase_I	P60660	MYL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		5	401	+			123			EF-hand 3.		P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Missense_Mutation	SNP	ENST00000550697.1	37	c.368A>G	CCDS8906.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.815253	0.70912	.	.	ENSG00000092841	ENST00000550697;ENST00000548580;ENST00000293422;ENST00000348108;ENST00000549017;ENST00000549566;ENST00000536128;ENST00000547649;ENST00000547408;ENST00000551589;ENST00000549392;ENST00000548400;ENST00000548293	D;T;D;D;T;D;D;D;D;D;D;D;D	0.81821	-1.54;-0.63;-1.54;-1.54;0.7;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	4.01	4.01	0.46588	EF-hand-like domain (1);	0.201561	0.44483	D	0.000444	D	0.91362	0.7275	H	0.94264	3.515	0.80722	D	1	D;B;D;D	0.89917	1.0;0.264;0.989;0.994	D;B;P;D	0.70016	0.967;0.262;0.828;0.931	D	0.93004	0.6426	10	0.62326	D	0.03	.	12.3705	0.55252	1.0:0.0:0.0:0.0	.	216;123;123;123	B7Z6Z4;P60660-2;P60660;F8W1R7	.;.;MYL6_HUMAN;.	G	123;75;124;124;19;168;216;123;123;123;111;87;123	ENSP00000446955:E123G;ENSP00000446640:E75G;ENSP00000293422:E124G;ENSP00000301540:E124G;ENSP00000449086:E19G;ENSP00000446709:E168G;ENSP00000441750:E216G;ENSP00000446714:E123G;ENSP00000446721:E123G;ENSP00000446687:E123G;ENSP00000450116:E111G;ENSP00000448859:E87G;ENSP00000448101:E123G	ENSP00000293422:E124G	E	+	2	0	MYL6	54840312	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.137000	0.71710	1.840000	0.53500	0.379000	0.24179	GAA		0.488	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407928.3			20	40	0	0	0	1	0	20	40					G	56554045	A	G	56554045	3	3	48	1	0	0	0	0	1	0	0	0	10060	246	9	4	386	4	MYL6	12	56554045	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	222793	56554045	77297850	2983	7451										
ATP5B	506	broad.mit.edu	37	chr12	57039021	57039021	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacttccagggcatttagaaTtggtggtagtccctcatcaa	9	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57039021T>C	ENST00000262030.3	-	2	294	c.244A>G	c.(244-246)Att>Gtt	p.I82V	ATP5B_ENST00000552919.1_Missense_Mutation_p.I82V|ATP5B_ENST00000550162.1_5'Flank|SNORD59A_ENST00000384304.1_RNA	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	82					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						GCATTTAGAATTGGTGGTAGT	0.542																																						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.(244-246)Att>Gtt		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							88	92	91					12																	57039021		2203	4300	6503	SO:0001583	missense	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.chr12:57039021T>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.244A>G	12.37:g.57039021T>C	ENSP00000262030:p.Ile82Val		Somatic				ATP5B_ENST00000552919.1_Missense_Mutation_p.I82V	p.I82V	NM_001686.3	NP_001677.2	WXS	Illumina GAIIx	Phase_I	P06576	ATPB_HUMAN			2	294	-			82					A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	c.244A>G	CCDS8924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.167439|4.167439	0.78339|0.78339	.|.	.|.	ENSG00000110955|ENSG00000110955	ENST00000552104|ENST00000262030;ENST00000552919;ENST00000553007	.|D;D;D	.|0.88124	.|-2.34;-2.34;-2.34	5.11|5.11	5.11|5.11	0.69529|0.69529	.|ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal (1);ATPase, F1/A1 complex, alpha/beta subunit, N-terminal (1);	.|0.049208	.|0.85682	.|D	.|0.000000	.|D	.|0.88411	.|0.6429	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	.|B	.|0.20459	.|0.045	.|B	.|0.28784	.|0.094	.|D	.|0.86923	.|0.2068	.|10	.|0.62326	.|D	.|0.03	.|-6.7785	14.3022|14.3022	0.66359|0.66359	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|82	.|P06576	.|ATPB_HUMAN	.|V	-1|82	.|ENSP00000262030:I82V;ENSP00000450297:I82V;ENSP00000447571:I82V	.|ENSP00000262030:I82V	.|I	-|-	.|1	.|0	ATP5B|ATP5B	55325288|55325288	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.901000|0.901000	0.52897|0.52897	7.257000|7.257000	0.78362|0.78362	2.265000|2.265000	0.75225|0.75225	0.533000|0.533000	0.62120|0.62120	.|ATT		0.542	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		14	78	0	0	0	1	0	14	78					C	57039021	T	C	57039021	3	2	48	1	0	0	0	0	1	0	0	0	1148	1493	52	4	1381	4	ATP5B	12	57039021	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	484976	57039021	76812874	2984	7452										
NACA	4666	broad.mit.edu	37	chr12	57114403	57114403	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgcaagatgagagcccagaGaaatgggaaaatctgggggg	17	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57114403G>T	ENST00000454682.1	-	3	1192	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	NACA_ENST00000550952.1_Missense_Mutation_p.S304Y|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	304	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						AGAGCCCAGAGAAATGGGAAA	0.483			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.(910-912)tCt>tAt		nascent polypeptide-associated complex alpha subunit							57	55	55					12																	57114403		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.chr12:57114403G>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.911C>A	12.37:g.57114403G>T	ENSP00000403817:p.Ser304Tyr		Somatic				NACA_ENST00000550952.1_Missense_Mutation_p.S304Y|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron	p.S304Y	NM_001113203.2	NP_001106674.2	WXS	Illumina GAIIx	Phase_I	Q13765	NACA_HUMAN			3	1192	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.911C>A		.	.	.	.	.	.	.	.	.	.	g	10.65	1.410132	0.25465	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.61158	0.13;0.46	3.97	3.06	0.35304	.	.	.	.	.	T	0.36608	0.0973	N	0.08118	0	0.09310	N	1	B;B	0.18013	0.025;0.0	B;B	0.15484	0.013;0.004	T	0.31503	-0.9941	9	0.87932	D	0	.	9.2912	0.37789	0.0:0.0:0.7871:0.2128	.	304;304	E9PAV3;F8VU71	.;.	Y	304	ENSP00000403817:S304Y;ENSP00000448035:S304Y	ENSP00000403817:S304Y	S	-	2	0	NACA	55400670	0.068000	0.21057	0.168000	0.22838	0.050000	0.14768	1.158000	0.31737	0.667000	0.31107	-1.344000	0.01245	TCT		0.483	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		25	33	1	0	9.57634e-11	1	1.18295e-10	25	33					T	57114403	G	T	57114403	3	4	48	1	0	0	0	0	1	0	0	0	10142	942	33	2	5353	2	NACA	12	57114403	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	75382	57114403	76737492	2985	7453										
MYO1A	4640	broad.mit.edu	37	chr12	57431423	57431423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaggaccttctcaacacctTccctatggaagcaaatgaca	6	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57431423T>C	ENST00000442789.2	-	20	2251	c.1964A>G	c.(1963-1965)gAa>gGa	p.E655G	MYO1A_ENST00000300119.3_Missense_Mutation_p.E655G|MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000544473.1_Missense_Mutation_p.E493G	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	655	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTCAACACCTTCCCTATGGAA	0.507																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(1963-1965)gAa>gGa		myosin IA							159	162	161					12																	57431423		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57431423T>C	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1964A>G	12.37:g.57431423T>C	ENSP00000393392:p.Glu655Gly		Somatic				MYO1A_ENST00000544473.1_Missense_Mutation_p.E493G|MYO1A_ENST00000300119.3_Missense_Mutation_p.E655G	p.E655G	NM_001256041.1	NP_001242970.1	WXS	Illumina GAIIx	Phase_I	Q9UBC5	MYO1A_HUMAN			20	2251	-			655			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.1964A>G	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.389223	0.42410	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.88046	-2.33;-2.33;-2.33	4.96	4.96	0.65561	Myosin head, motor domain (2);	0.174369	0.48767	D	0.000179	D	0.84133	0.5405	M	0.64080	1.96	0.49798	D	0.999827	P	0.36354	0.549	B	0.34536	0.185	D	0.85050	0.0928	10	0.66056	D	0.02	.	11.0233	0.47730	0.0:0.0:0.0:1.0	.	655	Q9UBC5	MYO1A_HUMAN	G	655;655;493	ENSP00000300119:E655G;ENSP00000393392:E655G;ENSP00000440514:E493G	ENSP00000300119:E655G	E	-	2	0	MYO1A	55717690	0.996000	0.38824	0.995000	0.50966	0.174000	0.22865	2.488000	0.45276	1.882000	0.54519	0.482000	0.46254	GAA		0.507	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		85	157	0	0	0	1	0	85	157					C	57431423	T	C	57431423	3	2	48	1	0	0	0	0	1	0	0	0	10077	1783	62	4	1207	4	MYO1A	12	57431423	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	317020	57431423	76420472	2986	7454										
LRP1	4035	broad.mit.edu	37	chr12	57588394	57588394	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agatgccctctgaattacttCgcctgccctagtgggcgctg	11	13	1	2	rs368477109		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57588394C>T	ENST00000243077.3	+	50	8569	c.8103C>T	c.(8101-8103)ttC>ttT	p.F2701F	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2701	LDL-receptor class A 15. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.F2701F(2)		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)	TGAATTACTTCGCCTGCCCTA	0.632													c|||	1	0.000199681	0	0	5008	,	,		18397	0		0	False		,,,				2504	0.001					ENST00000243077.3																			2	Substitution - coding silent(2)	p.F2701F(2)	lung(2)	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.(8101-8103)ttC>ttT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)			0,4406		0,0,2203	63	63	63		8103	-1.1	1	12		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP1	NM_002332.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2701/4545	57588394	1,13005	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.chr12:57588394C>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.8103C>T	12.37:g.57588394C>T			Somatic					p.F2701F	NM_002332.2	NP_002323.2	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	50	8569	+			2701			LDL-receptor class A 15.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.8103C>T	CCDS8932.1																																																																																				0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		43	53	0	0	0	1	0	43	53					T	57588394	C	T	57588394	2	4	48	1	0	0	0	0	0	0	0	1	8960	883	31	1		1	LRP1	12	57588394	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	156971	57588394	76263501	2987	7455										
STAC3	246329	broad.mit.edu	37	chr12	57642498	57642498	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcctactcacgatcttgccGaagcatctctgcatttccac	6	15	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57642498G>A	ENST00000332782.2	-	4	624	c.423C>T	c.(421-423)ttC>ttT	p.F141F	STAC3_ENST00000554578.1_Silent_p.F102F|STAC3_ENST00000546246.2_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	141					intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CGATCTTGCCGAAGCATCTCT	0.542																																						ENST00000332782.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						c.(421-423)ttC>ttT		SH3 and cysteine rich domain 3							545	486	506					12																	57642498		2203	4300	6503	SO:0001819	synonymous_variant	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57642498G>A	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.423C>T	12.37:g.57642498G>A			Somatic				STAC3_ENST00000554578.1_Silent_p.F102F|STAC3_ENST00000546246.2_Intron	p.F141F	NM_145064.1	NP_659501.1	WXS	Illumina GAIIx	Phase_I	Q96MF2	STAC3_HUMAN			4	624	-			141					B4DUK9|Q96HU5	Silent	SNP	ENST00000332782.2	37	c.423C>T	CCDS8936.1																																																																																				0.542	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		192	364	0	0	0	1	0	192	364					A	57642498	G	A	57642498	2	1	48	1	0	0	0	0	0	0	0	1	15256	1049	37	1		1	STAC3	12	57642498	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	54104	57642498	76209397	2988	7456										
GLI1	2735	broad.mit.edu	37	chr12	57865362	57865362	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgctaaagctccagtgaacAcatatggacctggctttgga	11	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57865362A>G	ENST00000228682.2	+	12	2930	c.2839A>G	c.(2839-2841)Aca>Gca	p.T947A	GLI1_ENST00000546141.1_Missense_Mutation_p.T906A|GLI1_ENST00000543426.1_Missense_Mutation_p.T819A	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	947					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)			TCCAGTGAACACATATGGACC	0.547																																					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.(2839-2841)Aca>Gca		GLI family zinc finger 1							58	61	60					12																	57865362		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.chr12:57865362A>G		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.2839A>G	12.37:g.57865362A>G	ENSP00000228682:p.Thr947Ala		Somatic				GLI1_ENST00000543426.1_Missense_Mutation_p.T819A|GLI1_ENST00000546141.1_Missense_Mutation_p.T906A	p.T947A	NM_005269.2	NP_005260.1	WXS	Illumina GAIIx	Phase_I	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	2930	+			947					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.2839A>G	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	A	1.075	-0.668768	0.03403	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.11930	2.84;2.73;2.81;2.81	4.53	0.9	0.19278	.	0.325015	0.22539	N	0.058750	T	0.04998	0.0134	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44065	-0.9352	10	0.08599	T	0.76	.	6.799	0.23740	0.7035:0.0:0.2965:0.0	.	947	P08151	GLI1_HUMAN	A	819;947;906;906;415	ENSP00000437607:T819A;ENSP00000228682:T947A;ENSP00000441006:T906A;ENSP00000434408:T906A	ENSP00000228682:T947A	T	+	1	0	GLI1	56151629	0.000000	0.05858	0.005000	0.12908	0.468000	0.32798	0.177000	0.16801	0.062000	0.16340	0.454000	0.30748	ACA		0.547	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		32	59	0	0	0	1	0	32	59					G	57865362	A	G	57865362	3	3	48	1	0	0	0	0	1	0	0	0	6445	159	6	4	2881	4	GLI1	12	57865362	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	222864	57865362	75986533	2989	7457										
ARHGAP9	64333	broad.mit.edu	37	chr12	57867888	57867888	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggctggggcagctcccggaGaaaaagcttcagggctccgg	16	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57867888G>T	ENST00000356411.2	-	16	2050	c.1912C>A	c.(1912-1914)Ctc>Atc	p.L638I	ARHGAP9_ENST00000430041.2_Missense_Mutation_p.L435I|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.L709I|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.L619I|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.L698I|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L619I			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	638	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGCTCCCGGAGAAAAAGCTTC	0.562																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(2125-2127)Ctc>Atc		Rho GTPase activating protein 9							36	39	38					12																	57867888		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57867888G>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1912C>A	12.37:g.57867888G>T	ENSP00000348782:p.Leu638Ile		Somatic				ARHGAP9_ENST00000356411.2_Missense_Mutation_p.L638I|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.L435I|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.L698I|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.L619I|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L619I	p.L709I			WXS	Illumina GAIIx	Phase_I	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		19	2317	-			638			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.2125C>A		.	.	.	.	.	.	.	.	.	.	G	20.3	3.964877	0.74131	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130	T;T;T;T;T;T	0.62788	-0.0;-0.0;1.85;-0.0;-0.0;1.85	4.97	3.13	0.36017	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.119600	0.56097	D	0.000028	T	0.66906	0.2837	L	0.52759	1.655	0.27571	N	0.949898	P;D;P;D;P	0.61080	0.92;0.989;0.617;0.977;0.76	P;P;B;P;P	0.62298	0.491;0.869;0.242;0.9;0.61	T	0.59182	-0.7502	10	0.87932	D	0	.	6.3679	0.21465	0.372:0.0:0.628:0.0	.	698;638;619;619;435	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;RHG09_HUMAN;.;.;.	I	619;638;619;709;668;435;108	ENSP00000377380:L619I;ENSP00000348782:L638I;ENSP00000394307:L619I;ENSP00000377386:L709I;ENSP00000397950:L435I;ENSP00000448423:L108I	ENSP00000344852:L668I	L	-	1	0	ARHGAP9	56154155	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.885000	0.48570	0.805000	0.34159	-0.136000	0.14681	CTC		0.562	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		15	22	1	0	3.45872e-05	1	3.78815e-05	15	22					T	57867888	G	T	57867888	3	4	48	1	0	0	0	0	1	0	0	0	889	942	33	2	352	2	ARHGAP9	12	57867888	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2526	57867888	75984007	2990	7458										
DDIT3	1649	broad.mit.edu	37	chr12	57910667	57910667	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acttccctggtcaggcgctcGatttcctgcttgagccgttc	10	14	1	1	rs200022707		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57910667G>A	ENST00000346473.3	-	4	614	c.435C>T	c.(433-435)atC>atT	p.I145I	DDIT3_ENST00000552740.1_Silent_p.I168I|DDIT3_ENST00000551116.1_Silent_p.I168I|RN7SL312P_ENST00000582079.1_RNA|MIR616_ENST00000385293.1_RNA|DDIT3_ENST00000547303.1_Silent_p.I145I	NM_001195057.1|NM_004083.5	NP_001181986.1|NP_004074.2	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	145	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|blood vessel maturation (GO:0001955)|cell cycle arrest (GO:0007050)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of determination of dorsal identity (GO:2000016)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interleukin-8 production (GO:0032757)|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)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|regulation of transcription, DNA-templated (GO:0006355)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to starvation (GO:0042594)|response to unfolded protein (GO:0006986)|Wnt signaling pathway (GO:0016055)	late endosome (GO:0005770)|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 corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						TCAGGCGCTCGATTTCCTGCT	0.542			T	FUS	liposarcoma								G|||	1	0.000199681	8e-04	0	5008	,	,		19612	0		0	False		,,,				2504	0				GBM(112;1383 1547 7626 23045 28770)	ENST00000551116.1				Dom	yes		12	12q13.1-q13.2	1649	T	DNA-damage-inducible transcript 3			M	FUS		liposarcoma	EWSR1/DDIT3(45)|FUS/DDIT3(631)	0				central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						c.(502-504)atC>atT		DNA-damage-inducible transcript 3		G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	143	147	146		504,504,504,504,435,435	-3.2	0.9	12		146	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DDIT3	NM_001195053.1,NM_001195054.1,NM_001195055.1,NM_001195056.1,NM_001195057.1,NM_004083.5	,,,,,	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	,,,,,	168/193,168/193,168/193,168/193,145/170,145/170	57910667	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	1649				cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr12:57910667G>A	BC003637	CCDS8943.1, CCDS55838.1	12q13.1-q13.2	2008-02-05				ENSG00000175197			2726	protein-coding gene	gene with protein product	"C/EBP zeta"	126337				1990262	Standard	NM_001195053		Approved	CHOP10, GADD153, CHOP	uc021qzk.1	P35638		ENST00000346473.3:c.435C>T	12.37:g.57910667G>A			Somatic				DDIT3_ENST00000552740.1_Silent_p.I168I|DDIT3_ENST00000346473.3_Silent_p.I145I|DDIT3_ENST00000547303.1_Silent_p.I145I	p.I168I	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	WXS	Illumina GAIIx	Phase_I	P35638	DDIT3_HUMAN			4	771	-			145					F8VS99	Silent	SNP	ENST00000346473.3	37	c.504C>T	CCDS8943.1																																																																																				0.542	DDIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407137.1	NM_004083		40	96	0	0	0	1	0	40	96					A	57910667	G	A	57910667	2	1	48	1	0	0	0	0	0	0	0	1	4332	1048	37	1		1	DDIT3	12	57910667	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	42779	57910667	75941228	2991	7459										
DTX3	196403	broad.mit.edu	37	chr12	58002452	58002452	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcggcacgtccatgaccacAgggagaccgaatgtcatcac	10	13	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:58002452A>C	ENST00000548198.1	+	4	2404	c.900A>C	c.(898-900)acA>acC	p.T300T	DTX3_ENST00000337737.3_Silent_p.T300T|ARHGEF25_ENST00000333972.7_5'Flank|ARHGEF25_ENST00000286494.4_5'Flank|DTX3_ENST00000551632.1_Silent_p.T303T|DTX3_ENST00000548804.1_Silent_p.T300T			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	300					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CCATGACCACAGGGAGACCGA	0.597																																						ENST00000548198.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12						c.(898-900)acA>acC		deltex homolog 3 (Drosophila)							67	73	71					12																	58002452		2162	4265	6427	SO:0001819	synonymous_variant	196403				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr12:58002452A>C	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"RING-type (C3HC4) zinc fingers"	24457	protein-coding gene	gene with protein product		613142	"deltex 3 homolog (Drosophila)", "deltex homolog 3 (Drosophila)"			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.900A>C	12.37:g.58002452A>C			Somatic				DTX3_ENST00000548804.1_Silent_p.T300T|DTX3_ENST00000551632.1_Silent_p.T303T|DTX3_ENST00000337737.3_Silent_p.T300T	p.T300T			WXS	Illumina GAIIx	Phase_I	Q8N9I9	DTX3_HUMAN			4	2404	+	Melanoma(17;0.122)		300					Q53ZZ2|Q8NAU6|Q8NDS8	Silent	SNP	ENST00000548198.1	37	c.900A>C	CCDS41800.1																																																																																				0.597	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		10	25	0	0	0	1	0	10	25					C	58002452	A	C	58002452	2	2	48	1	0	0	0	0	0	0	0	1	4797	175	7	4		4	DTX3	12	58002452	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	91785	58002452	75849443	2992	7460										
GEFT	115557	broad.mit.edu	37	chr12	58010626	58010626	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagtctctccaactccaaaAacccctccctgccaagccag	4	20	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:58010626A>C	ENST00000286494.4	+	15	2152	c.1692A>C	c.(1690-1692)aaA>aaC	p.K564N	AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.K603N|AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000477314.1_3'UTR	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	564						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CAACTCCAAAAACCCCTCCCT	0.537																																						ENST00000286494.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1690-1692)aaA>aaC		Rho guanine nucleotide exchange factor (GEF) 25							106	118	114					12																	58010626		2203	4300	6503	SO:0001583	missense	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58010626A>C		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"Rho guanine nucleotide exchange factors"	30275	protein-coding gene	gene with protein product	"RAC/CDC42 exchange factor"	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1692A>C	12.37:g.58010626A>C	ENSP00000286494:p.Lys564Asn		Somatic				AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000477314.1_3'UTR|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.K603N|AC025165.8_ENST00000593846.1_RNA	p.K564N	NM_182947.3	NP_891992.2	WXS	Illumina GAIIx	Phase_I	Q86VW2	ARHGP_HUMAN			15	2152	+			564					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	c.1692A>C	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	N	0.014	-1.583909	0.00872	.	.	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.37752	1.21;1.18	4.83	-1.87	0.07737	.	1.093990	0.07176	N	0.853231	T	0.10035	0.0246	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24512	-1.0158	10	0.15952	T	0.53	.	0.2732	0.00234	0.265:0.2396:0.2548:0.2406	.	603;564	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	N	603;564	ENSP00000335560:K603N;ENSP00000286494:K564N	ENSP00000286494:K564N	K	+	3	2	ARHGEF25	56296893	0.000000	0.05858	0.045000	0.18777	0.610000	0.37248	-0.250000	0.08830	-0.145000	0.11294	-1.214000	0.01621	AAA		0.537	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		56	94	0	0	0	1	0	56	94					C	58010626	A	C	58010626	3	2	48	1	0	0	0	0	1	0	0	0	6336	11	1	4	1972	4	GEFT	12	58010626	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	8174	58010626	75841269	2993	7461										
AVIL	10677	broad.mit.edu	37	chr12	58197112	58197112	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgatctcagtgacaacgaatTggccggtcttattggaacat	10	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:58197112T>C	ENST00000257861.3	-	15	2310	c.1880A>G	c.(1879-1881)cAa>cGa	p.Q627R	AVIL_ENST00000537081.1_Missense_Mutation_p.Q620R|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000550083.1_5'UTR|RNU6-1083P_ENST00000384022.1_RNA|RP11-571M6.17_ENST00000602802.1_lincRNA	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	627	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GACAACGAATTGGCCGGTCTT	0.478											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(1858-1860)cAa>cGa		advillin							219	191	200					12																	58197112		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58197112T>C	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1880A>G	12.37:g.58197112T>C	ENSP00000257861:p.Gln627Arg		Somatic	OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1029	AVIL_ENST00000257861.3_Missense_Mutation_p.Q627R|AVIL_ENST00000550083.1_5'UTR|TSFM_ENST00000548851.1_Intron	p.Q620R			WXS	Illumina GAIIx	Phase_I	O75366	AVIL_HUMAN			15	1858	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		627			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.1859A>G	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.585869	0.00872	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.21932	1.98;1.98	5.27	2.43	0.29744	.	0.175931	0.50627	N	0.000116	T	0.03220	0.0094	N	0.00124	-2.055	0.24861	N	0.992348	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.43621	-0.9380	10	0.02654	T	1	-8.6516	8.8074	0.34945	0.0:0.7438:0.0:0.2562	.	620;627	O75366-2;O75366	.;AVIL_HUMAN	R	620;627	ENSP00000443207:Q620R;ENSP00000257861:Q627R	ENSP00000257861:Q627R	Q	-	2	0	AVIL	56483379	0.372000	0.25064	0.218000	0.23776	0.008000	0.06430	0.715000	0.25822	0.214000	0.20742	-0.366000	0.07423	CAA		0.478	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		58	78	0	0	0	1	0	58	78					C	58197112	T	C	58197112	3	2	48	1	0	0	0	0	1	0	0	0	1227	1812	63	4	599	4	AVIL	12	58197112	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	186486	58197112	75654783	2994	7462										
AVIL	10677	broad.mit.edu	37	chr12	58209764	58209764	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagcccagctcacctctatTctccagacaatgatcccagg	6	17	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:58209764T>G	ENST00000257861.3	-	1	490	c.60A>C	c.(58-60)agA>agC	p.R20S	RP11-571M6.18_ENST00000602327.1_lincRNA|AVIL_ENST00000537081.1_5'Flank	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	20	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TCACCTCTATTCTCCAGACAA	0.572																																						ENST00000257861.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(58-60)agA>agC		advillin							123	90	101					12																	58209764		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58209764T>G	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.60A>C	12.37:g.58209764T>G	ENSP00000257861:p.Arg20Ser		Somatic					p.R20S	NM_006576.3	NP_006567.3	WXS	Illumina GAIIx	Phase_I	O75366	AVIL_HUMAN			1	490	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		20			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.60A>C	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.183736	0.57800	.	.	ENSG00000135407	ENST00000257861;ENST00000549994	T;T	0.20598	2.06;2.06	4.98	-1.35	0.09114	.	0.046101	0.85682	D	0.000000	T	0.44030	0.1274	M	0.88775	2.98	0.80722	D	1	D	0.69078	0.997	D	0.65010	0.931	T	0.43393	-0.9394	10	0.45353	T	0.12	-21.1484	11.0084	0.47649	0.0:0.5318:0.0:0.4682	.	20	O75366	AVIL_HUMAN	S	20	ENSP00000257861:R20S;ENSP00000449239:R20S	ENSP00000257861:R20S	R	-	3	2	AVIL	56496031	0.982000	0.34865	0.989000	0.46669	0.990000	0.78478	0.009000	0.13219	-0.411000	0.07530	0.533000	0.62120	AGA		0.572	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		16	35	0	0	0	1	0	16	35					G	58209764	T	G	58209764	3	3	48	1	0	0	0	0	1	0	0	0	1227	1780	62	4	2475	4	AVIL	12	58209764	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	12652	58209764	75642131	2995	7463										
LRIG3	121227	broad.mit.edu	37	chr12	59274382	59274382	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctatttactgtaagcttggcTttgacagagtaggatgaacc	10	7	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:59274382T>G	ENST00000320743.3	-	13	2068	c.1782A>C	c.(1780-1782)aaA>aaC	p.K594N	LRIG3_ENST00000379141.4_Missense_Mutation_p.K534N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	594	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)			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)			TAAGCTTGGCTTTGACAGAGT	0.393			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.(1780-1782)aaA>aaC		leucine-rich repeats and immunoglobulin-like domains 3							60	56	57					12																	59274382		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59274382T>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.1782A>C	12.37:g.59274382T>G	ENSP00000326759:p.Lys594Asn		Somatic				LRIG3_ENST00000379141.4_Missense_Mutation_p.K534N	p.K594N	NM_153377.4	NP_700356.2	WXS	Illumina GAIIx	Phase_I	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		13	2068	-			594			Ig-like C2-type 1.		Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.1782A>C	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606107	0.66445	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.69040	-0.37;-0.37	6.04	2.31	0.28768	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39341	N	0.001399	T	0.72700	0.3493	L	0.45470	1.425	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.68708	-0.5337	9	.	.	.	.	10.133	0.42691	0.0:0.1753:0.0:0.8247	.	534;594	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	N	534;594	ENSP00000368436:K534N;ENSP00000326759:K594N	.	K	-	3	2	LRIG3	57560649	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.171000	0.42453	0.521000	0.28445	0.459000	0.35465	AAA		0.393	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		5	41	0	0	0	1	0	5	41					G	59274382	T	G	59274382	3	3	48	1	0	0	0	0	1	0	0	0	8955	1606	56	4	1605	4	LRIG3	12	59274382	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1064618	59274382	74577513	2996	7464										
SLC16A7	9194	broad.mit.edu	37	chr12	60098718	60098718	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtcaccgtattcttcaaaGaaattcagcaaatattccac	4	11	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:60098718G>T	ENST00000261187.4	+	2	300	c.136G>T	c.(136-138)Gaa>Taa	p.E46*	SLC16A7_ENST00000552024.1_Nonsense_Mutation_p.E46*|SLC16A7_ENST00000549465.1_Nonsense_Mutation_p.E46*|SLC16A7_ENST00000552432.1_Nonsense_Mutation_p.E46*|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000547379.1_Nonsense_Mutation_p.E46*	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	46					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)	ATTCTTCAAAGAAATTCAGCA	0.423																																						ENST00000261187.4																			0				endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(136-138)Gaa>Taa		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						113	106	108					12																	60098718		2203	4300	6503	SO:0001587	stop_gained	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60098718G>T	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.136G>T	12.37:g.60098718G>T	ENSP00000261187:p.Glu46*		Somatic				SLC16A7_ENST00000552432.1_Nonsense_Mutation_p.E46*|SLC16A7_ENST00000547379.1_Nonsense_Mutation_p.E46*|SLC16A7_ENST00000549465.1_Nonsense_Mutation_p.E46*|SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000552024.1_Nonsense_Mutation_p.E46*|SLC16A7_ENST00000549588.1_3'UTR	p.E46*	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	WXS	Illumina GAIIx	Phase_I	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	2	300	+			46					Q8NEM3|Q9UPB3	Nonsense_Mutation	SNP	ENST00000261187.4	37	c.136G>T	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	37	6.611112	0.97705	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000549465;ENST00000552024;ENST00000548610;ENST00000261187	.	.	.	5.74	5.74	0.90152	.	0.206025	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3075	0.98634	0.0:0.0:1.0:0.0	.	.	.	.	X	46	.	.	E	+	1	0	SLC16A7	58384985	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	9.718000	0.98758	2.880000	0.98712	0.650000	0.86243	GAA		0.423	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		4	41	1	0	0.00909568	1	0.00935351	4	41					T	60098718	G	T	60098718	4	4	48	1	0	0	0	0	0	1	0	0	14428	943	33	2	138	2	SLC16A7	12	60098718	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	824336	60098718	73753177	2997	7465										
MON2	23041	broad.mit.edu	37	chr12	62931428	62931428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaggactttacttaacttggCgcattgccatggggctgttc	12	9	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:62931428C>T	ENST00000393632.2	+	16	2451	c.2060C>T	c.(2059-2061)gCg>gTg	p.A687V	MON2_ENST00000393630.3_Missense_Mutation_p.A687V|MON2_ENST00000552115.1_Missense_Mutation_p.A687V|MON2_ENST00000546600.1_Missense_Mutation_p.A687V|MON2_ENST00000552738.1_Missense_Mutation_p.A664V|MON2_ENST00000280379.6_Missense_Mutation_p.A687V|MON2_ENST00000393629.2_Missense_Mutation_p.A687V	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	687					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)		CTTAACTTGGCGCATTGCCAT	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.(2059-2061)gCg>gTg		MON2 homolog (S. cerevisiae)							126	122	123					12																	62931428		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62931428C>T		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.2060C>T	12.37:g.62931428C>T	ENSP00000377252:p.Ala687Val		Somatic				MON2_ENST00000552115.1_Missense_Mutation_p.A687V|MON2_ENST00000393632.2_Missense_Mutation_p.A687V|MON2_ENST00000552738.1_Missense_Mutation_p.A664V|MON2_ENST00000393629.2_Missense_Mutation_p.A687V|MON2_ENST00000280379.6_Missense_Mutation_p.A687V|MON2_ENST00000546600.1_Missense_Mutation_p.A687V	p.A687V	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	2451	+			687					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.2060C>T	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	34	5.400209	0.96030	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000261188;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.68479	-0.18;-0.18;-0.2;-0.17;-0.33;-0.17;-0.24	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.83436	0.5254	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.999;1.0	D;D;D;D	0.79784	0.99;0.927;0.966;0.993	T	0.83027	-0.0164	9	.	.	.	-15.8946	20.024	0.97514	0.0:1.0:0.0:0.0	.	687;664;687;687	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	V	687;687;687;687;615;664;687;687	ENSP00000377252:A687V;ENSP00000377250:A687V;ENSP00000280379:A687V;ENSP00000447407:A687V;ENSP00000449215:A664V;ENSP00000377249:A687V;ENSP00000446635:A687V	.	A	+	2	0	MON2	61217695	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.757000	0.85209	2.718000	0.92993	0.655000	0.94253	GCG		0.338	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		24	49	0	0	0	1	0	24	49					T	62931428	C	T	62931428	3	4	48	1	0	0	0	0	1	0	0	0	9709	768	27	1	2122	1	MON2	12	62931428	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2832710	62931428	70920467	2998	7466										
PPM1H	57460	broad.mit.edu	37	chr12	63182119	63182119	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctcgttctatctgtaggtcCtggagaataaaacagagtta	9	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:63182119C>T	ENST00000228705.6	-	4	1057		c.e4-1			NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H								phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TCTGTAGGTCCTGGAGAATAA	0.438																																						ENST00000228705.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18						c.e4-1		protein phosphatase, Mg2+/Mn2+ dependent, 1H							61	59	59					12																	63182119		1883	4117	6000	SO:0001630	splice_region_variant	57460						phosphoprotein phosphatase activity	g.chr12:63182119C>T	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	18583	protein-coding gene	gene with protein product	"neurite extension-related protein phosphatase related to PP2C"		"ras homolog gene family, member C like 1", "protein phosphatase 1H (PP2C domain containing)"	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.757-1G>A	12.37:g.63182119C>T			Somatic						NM_020700.1	NP_065751.1	WXS	Illumina GAIIx	Phase_I	Q9ULR3	PPM1H_HUMAN	GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)	4	1057	-								B1Q2A9|B2RXG4|Q6PI86	Splice_Site	SNP	ENST00000228705.6	37		CCDS44934.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007788	0.54361	.	.	ENSG00000111110	ENST00000228705	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8497	0.88742	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPM1H	61468386	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	6.260000	0.72502	2.748000	0.94277	0.462000	0.41574	.		0.438	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700	Intron	6	10	0	0	0	1	0	6	10					T	63182119	C	T	63182119	5	4	48	1	0	0	0	0	0	0	1	0	12353	695	24	3	816	3	PPM1H	12	63182119	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	250691	63182119	70669776	2999	7467										
LEMD3	23592	broad.mit.edu	37	chr12	65639662	65639662	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttgtgtatatgttaaatgtCtgtctccagaatatgctgga	10	5	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:65639662C>T	ENST00000308330.2	+	12	2541	c.2515C>T	c.(2515-2517)Ctg>Ttg	p.L839L		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	839	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TGTTAAATGTCTGTCTCCAGA	0.299																																						ENST00000308330.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2515-2517)Ctg>Ttg		LEM domain containing 3							107	122	117					12																	65639662		2200	4300	6500	SO:0001819	synonymous_variant	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65639662C>T	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.2515C>T	12.37:g.65639662C>T			Somatic					p.L839L	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	WXS	Illumina GAIIx	Phase_I	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	12	2541	+			839			Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.		Q9NT47|Q9NYA5	Silent	SNP	ENST00000308330.2	37	c.2515C>T	CCDS8972.1																																																																																				0.299	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2			22	53	0	0	0	1	0	22	53					T	65639662	C	T	65639662	2	4	48	1	0	0	0	0	0	0	0	1	8730	912	32	3		3	LEMD3	12	65639662	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2457543	65639662	68212233	3000	7468										
HELB	92797	broad.mit.edu	37	chr12	66709096	66709096	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgagactcttaagtcaagaAattgtgctattgagctaaag	9	5	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:66709096A>C	ENST00000247815.4	+	6	1992	c.1933A>C	c.(1933-1935)Aat>Cat	p.N645H		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	645					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)		TAAGTCAAGAAATTGTGCTAT	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.(1933-1935)Aat>Cat		helicase (DNA) B							97	104	102					12																	66709096		2203	4299	6502	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.chr12:66709096A>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.1933A>C	12.37:g.66709096A>C	ENSP00000247815:p.Asn645His		Somatic					p.N645H	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)	6	1992	+			645					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.1933A>C	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	A	8.250	0.808735	0.16467	.	.	ENSG00000127311	ENST00000247815	T	0.54071	0.59	4.74	0.908	0.19326	.	0.872502	0.10114	N	0.714351	T	0.33059	0.0850	N	0.21194	0.64	0.22457	N	0.999085	B	0.15473	0.013	B	0.17098	0.017	T	0.22800	-1.0206	9	.	.	.	-12.4414	4.7354	0.12986	0.4857:0.3603:0.154:0.0	.	645	Q8NG08	HELB_HUMAN	H	645	ENSP00000247815:N645H	.	N	+	1	0	HELB	64995363	0.566000	0.26618	0.994000	0.49952	0.444000	0.32077	0.431000	0.21444	0.234000	0.21139	0.528000	0.53228	AAT		0.353	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			20	38	0	0	0	1	0	20	38					C	66709096	A	C	66709096	3	2	48	1	0	0	0	0	1	0	0	0	7054	14	1	4	1955	4	HELB	12	66709096	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1069434	66709096	67142799	3001	7469										
CAND1	55832	broad.mit.edu	37	chr12	67700159	67700159	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaaataactagtcaacccaAaaggcagtatcttttacttc	5	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:67700159A>C	ENST00000545606.1	+	10	3148	c.2711A>C	c.(2710-2712)aAa>aCa	p.K904T		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	904					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)		AGTCAACCCAAAAGGCAGTAT	0.413																																						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.(2710-2712)aAa>aCa		cullin-associated and neddylation-dissociated 1							80	76	77					12																	67700159		2203	4300	6503	SO:0001583	missense	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.chr12:67700159A>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.2711A>C	12.37:g.67700159A>C	ENSP00000442318:p.Lys904Thr		Somatic					p.K904T	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	3148	+			904					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.2711A>C	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.422303	0.62622	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.20463	2.07;2.07	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;0.96	D;P	0.83275	0.996;0.698	T	0.49173	-0.8967	9	.	.	.	-15.7094	15.8576	0.78994	1.0:0.0:0.0:0.0	.	736;904	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	T	904;904;444	ENSP00000442318:K904T;ENSP00000444089:K444T	.	K	+	2	0	CAND1	65986426	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.264000	0.95635	2.144000	0.66660	0.482000	0.46254	AAA		0.413	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		14	18	0	0	0	1	0	14	18					C	67700159	A	C	67700159	3	2	48	1	0	0	0	0	1	0	0	0	2617	14	1	4	2749	4	CAND1	12	67700159	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	991063	67700159	66151736	3002	7470										
DYRK2	8445	broad.mit.edu	37	chr12	68051084	68051084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agctggacagcattcatagaCggcaggggagctccacctct	12	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:68051084C>T	ENST00000344096.3	+	3	810	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Missense_Mutation_p.R60W	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	133					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)			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)		CATTCATAGACGGCAGGGGAG	0.542																																						ENST00000344096.3																			0				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.(397-399)Cgg>Tgg		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2							65	57	60					12																	68051084		2203	4300	6503	SO:0001583	missense	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.chr12:68051084C>T	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.397C>T	12.37:g.68051084C>T	ENSP00000342105:p.Arg133Trp		Somatic				DYRK2_ENST00000393555.3_Missense_Mutation_p.R60W	p.R133W	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	810	+			133					B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	c.397C>T	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257594	0.59321	.	.	ENSG00000127334	ENST00000543747;ENST00000344096;ENST00000393555;ENST00000319833;ENST00000542503	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.09	4.2	0.49525	.	0.238192	0.43579	D	0.000543	T	0.45935	0.1367	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	P	0.59546	0.859	T	0.31558	-0.9939	9	.	.	.	.	13.0321	0.58847	0.2934:0.7066:0.0:0.0	.	133	Q92630	DYRK2_HUMAN	W	60;133;60;60;111	ENSP00000440839:R60W;ENSP00000342105:R133W;ENSP00000377186:R60W;ENSP00000324733:R60W;ENSP00000443314:R111W	.	R	+	1	2	DYRK2	66337351	0.999000	0.42202	0.782000	0.31804	0.939000	0.58152	3.869000	0.56062	1.284000	0.44531	0.313000	0.20887	CGG		0.542	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			23	37	0	0	0	1	0	23	37					T	68051084	C	T	68051084	3	4	48	1	0	0	0	0	1	0	0	0	4858	527	19	1	407	1	DYRK2	12	68051084	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	350925	68051084	65800811	3003	7471										
NUP107	57122	broad.mit.edu	37	chr12	69096538	69096538	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acagaatacagtctgcattaGaagaggaaagtgtattcgca	10	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:69096538G>T	ENST00000229179.4	+	8	1035	c.703G>T	c.(703-705)Gaa>Taa	p.E235*	NUP107_ENST00000378905.2_Nonsense_Mutation_p.E84*|NUP107_ENST00000539906.1_Nonsense_Mutation_p.E206*	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	235					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)			GTCTGCATTAGAAGAGGAAAG	0.274																																						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.(703-705)Gaa>Taa		nucleoporin 107kDa							85	87	87					12																	69096538		2203	4299	6502	SO:0001587	stop_gained	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.chr12:69096538G>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.703G>T	12.37:g.69096538G>T	ENSP00000229179:p.Glu235*		Somatic				NUP107_ENST00000539906.1_Nonsense_Mutation_p.E206*|NUP107_ENST00000378905.2_Nonsense_Mutation_p.E84*	p.E235*	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)		8	1035	+	Breast(13;6.25e-06)		235					B4DZ67|Q6PJE1	Nonsense_Mutation	SNP	ENST00000229179.4	37	c.703G>T	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	37	6.632870	0.97722	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.1	3.23	0.37069	.	0.041972	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.3919	10.7498	0.46203	0.0732:0.1325:0.7943:0.0	.	.	.	.	X	235;84;206	.	.	E	+	1	0	NUP107	67382805	1.000000	0.71417	0.998000	0.56505	0.718000	0.41266	4.268000	0.58883	0.778000	0.33520	-0.136000	0.14681	GAA		0.274	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		20	34	1	0	2.4624e-09	1	2.95225e-09	20	34					T	69096538	G	T	69096538	4	4	48	1	0	0	0	0	0	1	0	0	10762	943	33	2	733	2	NUP107	12	69096538	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1045454	69096538	64755357	3004	7472										
CPSF6	11052	broad.mit.edu	37	chr12	69650589	69650589	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taactccatgcaataaacagTtcctgagtcaatttgaaatg	6	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:69650589T>C	ENST00000435070.2	+	4	597	c.487T>C	c.(487-489)Ttc>Ctc	p.F163L	CPSF6_ENST00000456847.3_Missense_Mutation_p.F163L|CPSF6_ENST00000266679.8_Missense_Mutation_p.F163L|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	163					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CAATAAACAGTTCCTGAGTCA	0.358																																						ENST00000435070.2																			0				endometrium(1)|large_intestine(7)|lung(8)	16						c.(487-489)Ttc>Ctc		cleavage and polyadenylation specific factor 6, 68kDa							119	121	120					12																	69650589		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69650589T>C	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.487T>C	12.37:g.69650589T>C	ENSP00000391774:p.Phe163Leu		Somatic				CPSF6_ENST00000456847.3_Missense_Mutation_p.F163L|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.F163L	p.F163L	NM_007007.2	NP_008938.2	WXS	Illumina GAIIx	Phase_I	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		4	597	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		163					A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.487T>C	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996338	0.54147	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	T;T;T	0.73575	-0.76;-0.76;-0.76	5.85	5.85	0.93711	.	0.044013	0.85682	D	0.000000	T	0.64338	0.2589	L	0.40543	1.245	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.58775	-0.7577	9	.	.	.	-4.249	11.6071	0.51039	0.1328:0.0:0.0:0.8672	.	163;163	Q16630-2;Q16630	.;CPSF6_HUMAN	L	163	ENSP00000391774:F163L;ENSP00000391437:F163L;ENSP00000266679:F163L	.	F	+	1	0	CPSF6	67936856	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TTC		0.358	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		18	43	0	0	0	1	0	18	43					C	69650589	T	C	69650589	3	2	48	1	0	0	0	0	1	0	0	0	3831	1725	60	4	501	4	CPSF6	12	69650589	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	554051	69650589	64201306	3005	7473										
FRS2	10818	broad.mit.edu	37	chr12	69968311	69968311	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgcaagctaagtagggatgAagatgacaatttaggaccaa	11	7	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:69968311A>T	ENST00000550389.1	+	7	1349	c.1103A>T	c.(1102-1104)gAa>gTa	p.E368V	FRS2_ENST00000397997.2_Missense_Mutation_p.E368V|FRS2_ENST00000549921.1_Missense_Mutation_p.E368V|FRS2_ENST00000299293.2_Missense_Mutation_p.E368V	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	368					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)			AGTAGGGATGAAGATGACAAT	0.383																																						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.(1102-1104)gAa>gTa		fibroblast growth factor receptor substrate 2							74	70	72					12																	69968311		1883	4118	6001	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.chr12:69968311A>T	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.1103A>T	12.37:g.69968311A>T	ENSP00000447241:p.Glu368Val		Somatic				FRS2_ENST00000397997.2_Missense_Mutation_p.E368V|FRS2_ENST00000550389.1_Missense_Mutation_p.E368V|FRS2_ENST00000549921.1_Missense_Mutation_p.E368V	p.E368V	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	1613	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		368					B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	c.1103A>T	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.116655	0.37339	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	6.14	5.01	0.66863	.	0.289638	0.39407	N	0.001376	T	0.24122	0.0584	L	0.38175	1.15	0.49915	D	0.99983	P	0.52316	0.952	P	0.45998	0.5	T	0.01053	-1.1467	9	.	.	.	-19.0134	11.8232	0.52252	0.9326:0.0:0.0674:0.0	.	368	Q8WU20	FRS2_HUMAN	V	368	ENSP00000299293:E368V;ENSP00000450048:E368V;ENSP00000447241:E368V;ENSP00000381083:E368V	.	E	+	2	0	FRS2	68254578	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.917000	0.75782	2.367000	0.80283	0.529000	0.55759	GAA		0.383	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		35	56	0	0	0	1	0	35	56					T	69968311	A	T	69968311	3	4	48	1	0	0	0	0	1	0	0	0	6069	246	9	4	1121	4	FRS2	12	69968311	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	317722	69968311	63883584	3006	7474										
BEST3	144453	broad.mit.edu	37	chr12	70048879	70048879	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcatggggtctggacttagGtttcccagggaagtgtggct	15	8	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:70048879G>T	ENST00000330891.5	-	10	2041	c.1815C>A	c.(1813-1815)aaC>aaA	p.N605K	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.N499K|BEST3_ENST00000488961.1_Missense_Mutation_p.N392K	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	605					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)			CTGGACTTAGGTTTCCCAGGG	0.483																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1813-1815)aaC>aaA		bestrophin 3							79	76	77					12																	70048879		1875	4116	5991	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70048879G>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.1815C>A	12.37:g.70048879G>T	ENSP00000332413:p.Asn605Lys		Somatic				BEST3_ENST00000488961.1_Missense_Mutation_p.N392K|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.N499K	p.N605K	NM_032735.2	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)		10	2041	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		605					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.1815C>A	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571647	0.28003	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97811	-4.21;-4.55;-4.51	5.53	-1.67	0.08238	.	0.568963	0.17790	N	0.161932	D	0.90208	0.6939	N	0.19112	0.55	0.09310	N	0.999995	B;B	0.26672	0.094;0.156	B;B	0.16722	0.01;0.016	T	0.82424	-0.0464	10	0.27785	T	0.31	-2.439	0.2638	0.00222	0.2458:0.2679:0.2084:0.2779	.	605;392	Q8N1M1;B5MDI8	BEST3_HUMAN;.	K	392;605;499	ENSP00000433213:N392K;ENSP00000332413:N605K;ENSP00000449548:N499K	ENSP00000332413:N605K	N	-	3	2	BEST3	68335146	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.117000	0.10708	-0.185000	0.10550	-0.244000	0.11960	AAC		0.483	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		19	41	1	0	1.10923e-09	1	1.34134e-09	19	41					T	70048879	G	T	70048879	3	4	48	1	0	0	0	0	1	0	0	0	1406	1252	44	5	195	5	BEST3	12	70048879	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	80568	70048879	63803016	3007	7475										
RAB3IP	117177	broad.mit.edu	37	chr12	70149248	70149248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgcttcacctacttctccGgaccttcttggtgtgtatga	8	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:70149248G>A	ENST00000247833.7	+	2	436	c.60G>A	c.(58-60)ccG>ccA	p.P20P	RAB3IP_ENST00000362025.5_Silent_p.P36P|RAB3IP_ENST00000550536.1_Silent_p.P36P|RAB3IP_ENST00000483530.2_Silent_p.P20P|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Silent_p.P20P					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTACTTCTCCGGACCTTCTTG	0.443																																						ENST00000550536.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(106-108)ccG>ccA		RAB3A interacting protein							146	128	134					12																	70149248		2203	4300	6503	SO:0001819	synonymous_variant	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70149248G>A		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"rabin3"	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.60G>A	12.37:g.70149248G>A			Somatic				RAB3IP_ENST00000378815.6_Silent_p.P20P|RAB3IP_ENST00000362025.5_Silent_p.P36P|RAB3IP_ENST00000247833.7_Silent_p.P20P|RAB3IP_ENST00000483530.2_Silent_p.P20P|RAB3IP_ENST00000325555.9_5'UTR	p.P36P	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	WXS	Illumina GAIIx	Phase_I	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		2	565	+	Esophageal squamous(21;0.187)		36						Silent	SNP	ENST00000247833.7	37	c.108G>A	CCDS8995.1																																																																																				0.443	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		22	43	0	0	0	1	0	22	43					A	70149248	G	A	70149248	2	1	48	1	0	0	0	0	0	0	0	1	12953	1103	39	1		1	RAB3IP	12	70149248	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	100369	70149248	63702647	3008	7476										
PTPRB	5787	broad.mit.edu	37	chr12	70946656	70946656	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctctgctccaagcttaatgTtaaaactcttggagttgctg	8	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:70946656T>C	ENST00000261266.5	-	19	4663	c.4634A>G	c.(4633-4635)aAc>aGc	p.N1545S	PTPRB_ENST00000550857.1_Missense_Mutation_p.N1455S|PTPRB_ENST00000451516.2_Missense_Mutation_p.N1455S|PTPRB_ENST00000334414.6_Missense_Mutation_p.N1763S|PTPRB_ENST00000550358.1_Missense_Mutation_p.N1675S|PTPRB_ENST00000538708.1_Missense_Mutation_p.N1455S	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1545	Fibronectin type-III 17. {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)			AAGCTTAATGTTAAAACTCTT	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.(5287-5289)aAc>aGc		protein tyrosine phosphatase, receptor type, B							111	106	108					12																	70946656		1884	4119	6003	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70946656T>C	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.4634A>G	12.37:g.70946656T>C	ENSP00000261266:p.Asn1545Ser		Somatic				PTPRB_ENST00000550857.1_Missense_Mutation_p.N1455S|PTPRB_ENST00000550358.1_Missense_Mutation_p.N1675S|PTPRB_ENST00000538708.1_Missense_Mutation_p.N1455S|PTPRB_ENST00000261266.5_Missense_Mutation_p.N1545S|PTPRB_ENST00000451516.2_Missense_Mutation_p.N1455S	p.N1763S	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)		21	5332	-	Renal(347;0.236)		1545			Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.5288A>G	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.254122	0.39896	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.02682	4.22;4.23;4.2;4.28;4.23;4.28	5.76	4.59	0.56863	Fibronectin, type III (3);	0.441828	0.28515	N	0.015066	T	0.01695	0.0054	N	0.08118	0	0.25683	N	0.985774	B;B;B;B;P	0.35033	0.218;0.218;0.163;0.102;0.481	B;B;B;B;B	0.33454	0.117;0.117;0.075;0.034;0.164	T	0.46345	-0.9198	10	0.07813	T	0.8	.	12.9679	0.58494	0.0:0.0:0.1351:0.8649	.	1455;1455;1763;1545;1675	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	S	1763;1455;1675;1455;1455;1545	ENSP00000334928:N1763S;ENSP00000393028:N1455S;ENSP00000448058:N1675S;ENSP00000438927:N1455S;ENSP00000447302:N1455S;ENSP00000261266:N1545S	ENSP00000261266:N1545S	N	-	2	0	PTPRB	69232923	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	5.800000	0.69108	0.967000	0.38186	0.482000	0.46254	AAC		0.463	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			30	49	0	0	0	1	0	30	49					C	70946656	T	C	70946656	3	2	48	1	0	0	0	0	1	0	0	0	12811	1725	60	4	1415	4	PTPRB	12	70946656	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	797408	70946656	62905239	3009	7477										
PTPRR	5801	broad.mit.edu	37	chr12	71155283	71155283	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctgtaattccaaactgggAtaaactttgatgcaaaacat	6	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:71155283A>G	ENST00000283228.2	-	4	1047	c.595T>C	c.(595-597)Tcc>Ccc	p.S199P	PTPRR_ENST00000342084.4_Missense_Mutation_p.S87P	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	199					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)		CCAAACTGGGATAAACTTTGA	0.383																																						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.(595-597)Tcc>Ccc		protein tyrosine phosphatase, receptor type, R							142	143	143					12																	71155283		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.chr12:71155283A>G	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.595T>C	12.37:g.71155283A>G	ENSP00000283228:p.Ser199Pro		Somatic				PTPRR_ENST00000342084.4_Missense_Mutation_p.S87P	p.S199P	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)	4	1047	-			199					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.595T>C	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	A	12.78	2.039866	0.35989	.	.	ENSG00000153233	ENST00000283228;ENST00000342084	T;T	0.35048	1.33;1.33	5.68	3.3	0.37823	.	0.279055	0.25561	N	0.029827	T	0.20455	0.0492	N	0.17082	0.46	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.04320	-1.0960	10	0.41790	T	0.15	-4.2381	6.9937	0.24769	0.7941:0.0:0.0729:0.133	.	87;199	F5GXR7;Q15256	.;PTPRR_HUMAN	P	199;87	ENSP00000283228:S199P;ENSP00000339605:S87P	ENSP00000283228:S199P	S	-	1	0	PTPRR	69441550	1.000000	0.71417	0.962000	0.40283	0.960000	0.62799	3.499000	0.53310	0.419000	0.25927	0.368000	0.22195	TCC		0.383	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		20	68	0	0	0	1	0	20	68					G	71155283	A	G	71155283	3	3	48	1	0	0	0	0	1	0	0	0	12825	333	12	4	1422	4	PTPRR	12	71155283	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	208627	71155283	62696612	3010	7478										
TSPAN8	7103	broad.mit.edu	37	chr12	71523156	71523157	+	Frame_Shift_Ins	INS	-	-	T													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttccaataactataatcaaaINSttttttgccaagaagtcttt					rs139952436		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:71523156_71523157insT	ENST00000393330.2	-	11	1166_1167	c.614_615insA	c.(613-615)aatfs	p.N205fs	TSPAN8_ENST00000247829.3_Frame_Shift_Ins_p.N205fs|TSPAN8_ENST00000546561.1_Frame_Shift_Ins_p.N205fs|TSPAN8_ENST00000552128.1_Frame_Shift_Ins_p.N122fs			P19075	TSN8_HUMAN	tetraspanin 8	205					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CTATAATCAAATTTTTTGCCAA	0.267																																						ENST00000393330.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19						c.(613-615)attfs		tetraspanin 8																																				SO:0001589	frameshift_variant	7103				protein glycosylation	integral to membrane|lysosome	signal transducer activity	g.chr12:71523156_71523157insT	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"Tetraspanins"	11855	protein-coding gene	gene with protein product		600769	"transmembrane 4 superfamily member 3"	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.615dupA	12.37:g.71523162_71523162dupT	ENSP00000377003:p.Asn205fs		Somatic				TSPAN8_ENST00000552128.1_Frame_Shift_Ins_p.I122fs|TSPAN8_ENST00000546561.1_Frame_Shift_Ins_p.I205fs|TSPAN8_ENST00000247829.3_Frame_Shift_Ins_p.I205fs	p.I205fs			WXS	Illumina GAIIx	Phase_I	P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		11	1166_1167	-			205					B2R7T7|Q9BS78	Frame_Shift_Ins	INS	ENST00000393330.2	37	c.614_615insA	CCDS8999.1																																																																																				0.267	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616		8	22						8	22	---	---	---	---	T	71523157	-	T	71523156	7	5	48	1	0	1	1	0	0	0	0	0	16668	98	4	0	106	0	TSPAN8	12	71523156	Frame_Shift_Ins	INS	-	TCGA-ND-A4WC-01A-21D-A28R-08	367873	71523156	62328739	3011	7479										
LGR5	8549	broad.mit.edu	37	chr12	71950416	71950416	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagacatctccataacaataGaatccactccctgggaaaga	6	12	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:71950416G>T	ENST00000266674.5	+	6	973	c.662G>T	c.(661-663)aGa>aTa	p.R221I	LGR5_ENST00000540815.2_Missense_Mutation_p.R221I|LGR5_ENST00000536515.1_Missense_Mutation_p.R149I			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	221					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						CATAACAATAGAATCCACTCC	0.388																																						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.(661-663)aGa>aTa		leucine-rich repeat containing G protein-coupled receptor 5							207	196	200					12																	71950416		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71950416G>T	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.662G>T	12.37:g.71950416G>T	ENSP00000266674:p.Arg221Ile		Somatic				LGR5_ENST00000536515.1_Missense_Mutation_p.R149I|LGR5_ENST00000540815.2_Missense_Mutation_p.R221I	p.R221I			WXS	Illumina GAIIx	Phase_I	O75473	LGR5_HUMAN			6	973	+			221					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.662G>T	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413615	0.83449	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;D;T	0.90324	1.98;-2.65;1.98	5.55	4.65	0.58169	.	0.074592	0.56097	D	0.000025	D	0.92463	0.7607	M	0.62723	1.935	0.58432	D	0.999997	P;P	0.45474	0.658;0.859	B;P	0.52710	0.381;0.707	D	0.92955	0.6384	10	0.72032	D	0.01	.	15.3259	0.74160	0.0707:0.0:0.9293:0.0	.	221;221	O75473-2;O75473	.;LGR5_HUMAN	I	221;221;149;221	ENSP00000266674:R221I;ENSP00000443033:R149I;ENSP00000441035:R221I	ENSP00000266674:R221I	R	+	2	0	LGR5	70236683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.033000	0.49743	2.768000	0.95171	0.655000	0.94253	AGA		0.388	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		25	51	1	0	4.4004e-07	1	5.01286e-07	25	51					T	71950416	G	T	71950416	3	4	48	1	0	0	0	0	1	0	0	0	8766	942	33	2	684	2	LGR5	12	71950416	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	427260	71950416	61901479	3012	7480										
LGR5	8549	broad.mit.edu	37	chr12	71978130	71978130	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accaactgcatcctaaactgCcctgtggctttcttgtcctt	6	14	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:71978130C>T	ENST00000266674.5	+	18	2651	c.2340C>T	c.(2338-2340)tgC>tgT	p.C780C	LGR5_ENST00000540815.2_Silent_p.C756C|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000536515.1_Silent_p.C708C			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	780					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						TCCTAAACTGCCCTGTGGCTT	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.(2338-2340)tgC>tgT		leucine-rich repeat containing G protein-coupled receptor 5							152	150	151					12																	71978130		2203	4300	6503	SO:0001819	synonymous_variant	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71978130C>T	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.2340C>T	12.37:g.71978130C>T			Somatic				LGR5_ENST00000540815.2_Silent_p.C756C|LGR5_ENST00000536515.1_Silent_p.C708C	p.C780C			WXS	Illumina GAIIx	Phase_I	O75473	LGR5_HUMAN			18	2651	+			780					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Silent	SNP	ENST00000266674.5	37	c.2340C>T	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	C	2.724	-0.266024	0.05754	.	.	ENSG00000139292	ENST00000451585	.	.	.	5.84	1.95	0.26073	.	.	.	.	.	T	0.61887	0.2383	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62558	-0.6829	5	0.72032	D	0.01	.	7.5435	0.27753	0.0:0.6484:0.1198:0.2319	.	.	.	.	S	760	.	ENSP00000414152:P760S	P	+	1	0	LGR5	70264397	0.134000	0.22483	0.998000	0.56505	0.602000	0.36980	-0.411000	0.07142	0.802000	0.34089	0.650000	0.86243	CCC		0.428	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		37	86	0	0	0	1	0	37	86					T	71978130	C	T	71978130	2	4	48	1	0	0	0	0	0	0	0	1	8766	747	26	3		3	LGR5	12	71978130	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	27714	71978130	61873765	3013	7481										
ZFC3H1	196441	broad.mit.edu	37	chr12	72037952	72037952	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcctgatttgagagatctcGaatttttctgatttcttcct	6	8	3	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:72037952G>A	ENST00000378743.3	-	5	1784	c.1426C>T	c.(1426-1428)Cga>Tga	p.R476*		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	476					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R476*(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						GAGAGATCTCGAATTTTTCTG	0.363																																						ENST00000378743.3																			1	Substitution - Nonsense(1)	p.R476*(1)	skin(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.(1426-1428)Cga>Tga		zinc finger, C3H1-type containing							174	159	164					12																	72037952		1868	4106	5974	SO:0001587	stop_gained	196441				RNA processing	intracellular	metal ion binding	g.chr12:72037952G>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.1426C>T	12.37:g.72037952G>A	ENSP00000368017:p.Arg476*		Somatic					p.R476*	NM_144982.4	NP_659419.3	WXS	Illumina GAIIx	Phase_I	O60293	ZC3H1_HUMAN			5	1784	-			476					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Nonsense_Mutation	SNP	ENST00000378743.3	37	c.1426C>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	38	7.045467	0.98025	.	.	ENSG00000133858	ENST00000378743	.	.	.	5.0	4.1	0.47936	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8725	0.57972	0.0:0.0:0.581:0.419	.	.	.	.	X	476	.	ENSP00000368017:R476X	R	-	1	2	ZFC3H1	70324219	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.985000	0.40668	1.068000	0.40764	0.655000	0.94253	CGA		0.363	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		4	16	0	0	0	1	0	4	16					A	72037952	G	A	72037952	4	1	48	1	0	0	0	0	0	1	0	0	17648	1066	37	1	4667	1	ZFC3H1	12	72037952	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	59822	72037952	61813943	3014	7482										
TRHDE	29953	broad.mit.edu	37	chr12	72771853	72771853	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atataacaaagagattaataGaattttatgaagactacttt	5	3	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:72771853G>T	ENST00000261180.4	+	3	1228	c.1132G>T	c.(1132-1134)Gaa>Taa	p.E378*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	378					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						GAGATTAATAGAATTTTATGA	0.328																																						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.(1132-1134)Gaa>Taa		thyrotropin-releasing hormone degrading enzyme							73	77	76					12																	72771853		2203	4295	6498	SO:0001587	stop_gained	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72771853G>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.1132G>T	12.37:g.72771853G>T	ENSP00000261180:p.Glu378*		Somatic					p.E378*	NM_013381.2	NP_037513.1	WXS	Illumina GAIIx	Phase_I	Q9UKU6	TRHDE_HUMAN			3	1228	+			378					A5PL19|Q6UWJ4	Nonsense_Mutation	SNP	ENST00000261180.4	37	c.1132G>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	38	6.724357	0.97792	.	.	ENSG00000072657	ENST00000261180	.	.	.	5.57	5.57	0.84162	.	0.125073	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	19.5437	0.95283	0.0:0.0:1.0:0.0	.	.	.	.	X	378	.	ENSP00000261180:E378X	E	+	1	0	TRHDE	71058120	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.779000	0.68948	2.645000	0.89757	0.585000	0.79938	GAA		0.328	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		14	53	1	0	0.00400662	1	0.0041636	14	53					T	72771853	G	T	72771853	4	4	48	1	0	0	0	0	0	1	0	0	16494	943	33	2	1142	2	TRHDE	12	72771853	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	733901	72771853	61080042	3015	7483										
TRHDE	29953	broad.mit.edu	37	chr12	72955964	72955964	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggattatttaaccattcataAgtatggtaatgcagccagaa	8	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:72955964A>C	ENST00000261180.4	+	8	1769	c.1673A>C	c.(1672-1674)aAg>aCg	p.K558T	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	558					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						ACCATTCATAAGTATGGTAAT	0.269																																						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.(1672-1674)aAg>aCg		thyrotropin-releasing hormone degrading enzyme							36	37	37					12																	72955964		2197	4267	6464	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72955964A>C	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.1673A>C	12.37:g.72955964A>C	ENSP00000261180:p.Lys558Thr		Somatic				TRHDE_ENST00000549138.1_3'UTR	p.K558T	NM_013381.2	NP_037513.1	WXS	Illumina GAIIx	Phase_I	Q9UKU6	TRHDE_HUMAN			8	1769	+			558					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1673A>C	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.16|15.16	2.751192|2.751192	0.49257|0.49257	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000261180|ENST00000547300	T|.	0.05258|.	3.47|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.045759|.	0.85682|.	D|.	0.000000|.	T|.	0.75889|.	0.3911|.	M|M	0.75150|0.75150	2.29|2.29	0.47819|0.47819	D|D	0.99952|0.99952	P|.	0.40144|.	0.704|.	B|.	0.30716|.	0.119|.	T|.	0.75941|.	-0.3140|.	10|.	0.33141|.	T|.	0.24|.	.|.	16.4696|16.4696	0.84102|0.84102	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	558|.	Q9UKU6|.	TRHDE_HUMAN|.	T|Y	558|145	ENSP00000261180:K558T|.	ENSP00000261180:K558T|.	K|X	+|+	2|3	0|2	TRHDE|TRHDE	71242231|71242231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.855000|3.855000	0.55957|0.55957	2.289000|2.289000	0.77006|0.77006	0.482000|0.482000	0.46254|0.46254	AAG|TAA		0.269	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		6	11	0	0	0	1	0	6	11					C	72955964	A	C	72955964	3	2	48	1	0	0	0	0	1	0	0	0	16494	72	3	4	1703	4	TRHDE	12	72955964	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	184111	72955964	60895931	3016	7484										
KCNC2	3747	broad.mit.edu	37	chr12	75444659	75444659	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaattcattagtactagctcGaagagtatgtccaagcaccc	7	10	1	1	rs200951837		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:75444659G>A	ENST00000549446.1	-	3	1806	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	KCNC2_ENST00000350228.2_Nonsense_Mutation_p.R376*|KCNC2_ENST00000540018.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Nonsense_Mutation_p.R376*|KCNC2_ENST00000393288.2_Nonsense_Mutation_p.R376*|KCNC2_ENST00000550433.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000298972.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000548513.1_Nonsense_Mutation_p.R376*	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	376					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)	p.R376*(2)		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)	GTACTAGCTCGAAGAGTATGT	0.453																																						ENST00000549446.1																			2	Substitution - Nonsense(2)	p.R376*(2)	large_intestine(2)	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.(1126-1128)Cga>Tga		potassium voltage-gated channel, Shaw-related subfamily, member 2							53	50	51					12																	75444659		2203	4300	6503	SO:0001587	stop_gained	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75444659G>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.1126C>T	12.37:g.75444659G>A	ENSP00000449253:p.Arg376*		Somatic				KCNC2_ENST00000550433.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000540018.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000548513.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Nonsense_Mutation_p.R376*|KCNC2_ENST00000341669.3_Nonsense_Mutation_p.R376*|KCNC2_ENST00000298972.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000350228.2_Nonsense_Mutation_p.R376*	p.R376*	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	WXS	Illumina GAIIx	Phase_I	Q96PR1	KCNC2_HUMAN			3	1806	-			376					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Nonsense_Mutation	SNP	ENST00000549446.1	37	c.1126C>T	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	G	42	9.583643	0.99211	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	.	.	.	6.06	6.06	0.98353	.	0.000000	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8785	0.86058	0.0:0.0:0.8713:0.1287	.	.	.	.	X	376	.	ENSP00000298972:R376X	R	-	1	2	KCNC2	73730926	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.969000	0.56816	2.880000	0.98712	0.650000	0.86243	CGA		0.453	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		8	48	0	0	0	1	0	8	48					A	75444659	G	A	75444659	4	1	48	1	0	0	0	0	0	1	0	0	8024	1066	37	1	868	1	KCNC2	12	75444659	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2488695	75444659	58407236	3017	7485										
NAV3	89795	broad.mit.edu	37	chr12	78225316	78225316	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgtgcatactgctcttccGataccaaatcttggcactac	6	14	2	0	rs369240432		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:78225316G>A	ENST00000397909.2	+	1	248	c.75G>A	c.(73-75)ccG>ccA	p.P25P	NAV3_ENST00000266692.7_Silent_p.P25P|NAV3_ENST00000228327.6_Silent_p.P25P|NAV3_ENST00000536525.2_Silent_p.P25P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	25						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						CTGCTCTTCCGATACCAAATC	0.463										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.(73-75)ccG>ccA		neuron navigator 3							145	141	143					12																	78225316		1916	4131	6047	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78225316G>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.75G>A	12.37:g.78225316G>A		HNSCC(70;0.22)	Somatic				NAV3_ENST00000228327.6_Silent_p.P25P|NAV3_ENST00000266692.7_Silent_p.P25P|NAV3_ENST00000536525.2_Silent_p.P25P	p.P25P			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			1	248	+			25					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.75G>A																																																																																					0.463	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		58	121	0	0	0	1	0	58	121					A	78225316	G	A	78225316	2	1	48	1	0	0	0	0	0	0	0	1	10194	1045	37	1		1	NAV3	12	78225316	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2780657	78225316	55626579	3018	7486										
NAV3	89795	broad.mit.edu	37	chr12	78562559	78562559	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgaacttatagaactaagaGaaaccattgaaatgctgaag	8	6	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:78562559G>T	ENST00000397909.2	+	24	5067	c.4894G>T	c.(4894-4896)Gaa>Taa	p.E1632*	NAV3_ENST00000266692.7_Nonsense_Mutation_p.E1455*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.E1632*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.E1632*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1632						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						AGAACTAAGAGAAACCATTGA	0.403										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.(4894-4896)Gaa>Taa		neuron navigator 3							74	75	75					12																	78562559		1810	4081	5891	SO:0001587	stop_gained	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78562559G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4894G>T	12.37:g.78562559G>T	ENSP00000381007:p.Glu1632*	HNSCC(70;0.22)	Somatic				NAV3_ENST00000228327.6_Nonsense_Mutation_p.E1632*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.E1455*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.E1632*	p.E1632*			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			24	5067	+			1632					Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	ENST00000397909.2	37	c.4894G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.862260|12.862260	0.99702|0.99702	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	.|D	.|0.94966	.|-3.57	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.41294|.	U|.	0.000917|.	.|D	.|0.96065	.|0.8718	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.96010	.|0.9001	.|6	0.13853|0.87932	T|D	0.58|0	-24.083|-24.083	12.8592|12.8592	0.57903|0.57903	0.0748:0.0:0.9252:0.0|0.0748:0.0:0.9252:0.0	.|.	.|.	.|.	.|.	X|I	1632;1632;1632;1455;253;261|526	.|ENSP00000446644:R526I	ENSP00000228327:E1632X|ENSP00000446644:R526I	E|R	+|+	1|2	0|0	NAV3|NAV3	77086690|77086690	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.985000|0.985000	0.73830|0.73830	4.187000|4.187000	0.58344|0.58344	2.706000|2.706000	0.92434|0.92434	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.403	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		23	48	1	0	3.7963e-18	1	5.12524e-18	23	48					T	78562559	G	T	78562559	4	4	48	1	0	0	0	0	0	1	0	0	10194	943	33	2	4988	2	NAV3	12	78562559	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	337243	78562559	55289336	3019	7487										
NAV3	89795	broad.mit.edu	37	chr12	78582038	78582038	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttatttaggaccaaaaatCtcaggcatatttgataggat	7	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:78582038C>T	ENST00000397909.2	+	32	5974	c.5801C>T	c.(5800-5802)tCt>tTt	p.S1934F	NAV3_ENST00000266692.7_Missense_Mutation_p.S1735F|NAV3_ENST00000228327.6_Missense_Mutation_p.S1912F|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000536525.2_Missense_Mutation_p.S1912F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1934						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						GACCAAAAATCTCAGGCATAT	0.313										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.(5800-5802)tCt>tTt		neuron navigator 3							99	93	95					12																	78582038		1805	4075	5880	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78582038C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5801C>T	12.37:g.78582038C>T	ENSP00000381007:p.Ser1934Phe	HNSCC(70;0.22)	Somatic				NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.S1912F|NAV3_ENST00000266692.7_Missense_Mutation_p.S1735F|NAV3_ENST00000536525.2_Missense_Mutation_p.S1912F	p.S1934F			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			32	5974	+			1934					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.5801C>T		.	.	.	.	.	.	.	.	.	.	C	12.11	1.839196	0.32513	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	T;T;T;T;T	0.30448	1.63;1.63;1.63;1.53;2.42	5.73	4.83	0.62350	.	0.196121	0.24912	U	0.034607	T	0.25865	0.0630	L	0.44542	1.39	0.58432	D	0.999995	B;B;B;B	0.32526	0.013;0.189;0.21;0.374	B;B;B;B	0.30495	0.013;0.052;0.068;0.116	T	0.07558	-1.0766	10	0.72032	D	0.01	-6.0325	9.5394	0.39242	0.0:0.6572:0.2718:0.071	.	1912;1735;1934;1912	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	F	1912;1934;1912;1735;526;534	ENSP00000446132:S1912F;ENSP00000381007:S1934F;ENSP00000228327:S1912F;ENSP00000266692:S1735F;ENSP00000448303:S534F	ENSP00000228327:S1912F	S	+	2	0	NAV3	77106169	0.963000	0.33076	1.000000	0.80357	0.227000	0.25037	1.475000	0.35409	1.413000	0.46997	0.585000	0.79938	TCT		0.313	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		19	26	0	0	0	1	0	19	26					T	78582038	C	T	78582038	3	4	48	1	0	0	0	0	1	0	0	0	10194	913	32	3	5857	3	NAV3	12	78582038	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	19479	78582038	55269857	3020	7488										
SYT1	6857	broad.mit.edu	37	chr12	79679637	79679637	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgacctgctgcttttgtatCtgtaagaaatgtttgttcaa	8	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:79679637C>A	ENST00000261205.4	+	5	894	c.237C>A	c.(235-237)atC>atA	p.I79I	SYT1_ENST00000393240.3_Silent_p.I79I|SYT1_ENST00000457153.2_Silent_p.I79I|SYT1_ENST00000552744.1_Silent_p.I79I	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	79					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						GCTTTTGTATCTGTAAGAAAT	0.403																																						ENST00000261205.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(235-237)atC>atA		synaptotagmin I							143	135	137					12																	79679637		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:79679637C>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.237C>A	12.37:g.79679637C>A			Somatic				SYT1_ENST00000393240.3_Silent_p.I79I|SYT1_ENST00000457153.2_Silent_p.I79I|SYT1_ENST00000552744.1_Silent_p.I79I	p.I79I	NM_005639.2	NP_005630.1	WXS	Illumina GAIIx	Phase_I	P21579	SYT1_HUMAN			5	894	+			79					Q6AI31	Silent	SNP	ENST00000261205.4	37	c.237C>A	CCDS9017.1																																																																																				0.403	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		15	42	1	0	1.49906e-05	1	1.64923e-05	15	42					A	79679637	C	A	79679637	2	1	48	1	0	0	0	0	0	0	0	1	15480	903	32	2		2	SYT1	12	79679637	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1097599	79679637	54172258	3021	7489										
C12orf64	283310	broad.mit.edu	37	chr12	80733009	80733009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agacattcattttggcttccGatttaacttgtcatcctaca	5	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:80733009G>A	ENST00000547103.1	+	42	4958	c.4952G>A	c.(4951-4953)cGa>cAa	p.R1651Q	OTOGL_ENST00000458043.2_Missense_Mutation_p.R1663Q			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1651	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.R28L(1)|p.R1663L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTGGCTTCCGATTTAACTTG	0.353																																						ENST00000458043.2																			2	Substitution - Missense(2)	p.R28L(1)|p.R1663L(1)	lung(2)	breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(4987-4989)cGa>cAa		otogelin-like							233	231	232					12																	80733009		1883	4096	5979	SO:0001583	missense	283310							g.chr12:80733009G>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.4952G>A	12.37:g.80733009G>A	ENSP00000447211:p.Arg1651Gln		Somatic				OTOGL_ENST00000547103.1_Missense_Mutation_p.R1651Q	p.R1663Q	NM_173591.3	NP_775862.3	WXS	Illumina GAIIx	Phase_I					42	4994	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.4988G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.820|2.820	-0.245098|-0.245098	0.05906|0.05906	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043	.|T;T	.|0.59224	.|0.28;0.28	5.58|5.58	-11.2|-11.2	0.00127|0.00127	.|.	.|.	.|.	.|.	.|.	T|T	0.19327|0.19327	0.0464|0.0464	N|N	0.01048|0.01048	-1.04|-1.04	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.37197|0.37197	-0.9716|-0.9716	5|7	.|0.11182	.|T	.|0.66	.|.	11.6147|11.6147	0.51083|0.51083	0.4557:0.092:0.4523:0.0|0.4557:0.092:0.4523:0.0	.|.	.|.	.|.	.|.	N|Q	106|1651;1663	.|ENSP00000447211:R1651Q;ENSP00000400895:R1663Q	.|ENSP00000400895:R1663Q	D|R	+|+	1|2	0|0	OTOGL|OTOGL	79257140|79257140	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.165000|0.165000	0.22458|0.22458	0.256000|0.256000	0.18351|0.18351	-1.612000|-1.612000	0.01579|0.01579	-0.300000|-0.300000	0.09419|0.09419	GAT|CGA		0.353	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		70	113	0	0	0	1	0	70	113					A	80733009	G	A	80733009	3	1	48	1	0	0	0	0	1	0	0	0	1709	1058	37	1	5154	1	C12orf64	12	80733009	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1053372	80733009	53118886	3022	7490										
PPFIA2	8499	broad.mit.edu	37	chr12	81741356	81741356	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catttccctggcagggcttcGaggggtgagctttggagttg	16	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:81741356G>A	ENST00000549396.1	-	18	2348	c.2188C>T	c.(2188-2190)Cga>Tga	p.R730*	PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R712*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R297*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R730*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R712*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R577*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R656*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R631*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R730*|PPFIA2_ENST00000550584.2_Nonsense_Mutation_p.R730*|PPFIA2_ENST00000541017.1_Intron	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	730					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCAGGGCTTCGAGGGGTGAGC	0.522																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(2188-2190)Cga>Tga		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							145	148	147					12																	81741356		1985	4156	6141	SO:0001587	stop_gained	8499							g.chr12:81741356G>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2188C>T	12.37:g.81741356G>A	ENSP00000450337:p.Arg730*		Somatic				PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R577*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R712*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.R730*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R297*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R730*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R730*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R631*|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R712*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R656*	p.R730*	NM_001220473.1	NP_001207402.1	WXS	Illumina GAIIx	Phase_I	B7Z663	B7Z663_HUMAN			17	2483	-			656					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Nonsense_Mutation	SNP	ENST00000549396.1	37	c.2188C>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	37	6.410366	0.97546	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	.	.	.	5.51	-0.154	0.13399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1454	16.1562	0.81670	0.0:0.0:0.4612:0.5388	.	.	.	.	X	730;712;297;656;741;712;730;631;730	.	ENSP00000327416:R712X	R	-	1	2	PPFIA2	80265487	1.000000	0.71417	0.087000	0.20705	0.986000	0.74619	3.103000	0.50298	-0.228000	0.09869	0.650000	0.86243	CGA		0.522	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			40	86	0	0	0	1	0	40	86					A	81741356	G	A	81741356	4	1	48	1	0	0	0	0	0	1	0	0	12319	1066	37	1	1645	1	PPFIA2	12	81741356	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1008347	81741356	52110539	3023	7491										
PPFIA2	8499	broad.mit.edu	37	chr12	81777837	81777837	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgatacttggtgttcatttCttctgttttaatgagatcct	7	6	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:81777837C>A	ENST00000549396.1	-	9	1109	c.949G>T	c.(949-951)Gaa>Taa	p.E317*	PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.E299*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.E317*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.E299*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.E164*|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.E243*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.E218*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.E317*|PPFIA2_ENST00000550584.2_Nonsense_Mutation_p.E317*|RP11-315E17.1_ENST00000546936.1_RNA	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	317	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GTGTTCATTTCTTCTGTTTTA	0.433																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(949-951)Gaa>Taa		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							147	140	142					12																	81777837		1912	4127	6039	SO:0001587	stop_gained	8499							g.chr12:81777837C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.949G>T	12.37:g.81777837C>A	ENSP00000450337:p.Glu317*		Somatic				PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.E164*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.E299*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.E317*|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.E317*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.E317*|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.E218*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.E299*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.E243*	p.E317*	NM_001220473.1	NP_001207402.1	WXS	Illumina GAIIx	Phase_I	B7Z663	B7Z663_HUMAN			8	1244	-			243					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Nonsense_Mutation	SNP	ENST00000549396.1	37	c.949G>T	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.841343|6.841343	0.97877|0.97877	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000548790	.|.	.|.	.|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.055448|.	0.64402|.	D|.	0.000001|.	.|T	.|0.76983	.|0.4064	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74163	.|-0.3754	.|4	0.72032|.	D|.	0.01|.	-20.5431|-20.5431	20.2422|20.2422	0.98381|0.98381	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	317;299;243;328;299;317;218;317|134	.|.	ENSP00000327416:E299X|.	E|K	-|-	1|3	0|2	PPFIA2|PPFIA2	80301968|80301968	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.776000|7.776000	0.85560|0.85560	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GAA|AAG		0.433	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			7	34	1	0	2.0095e-06	1	2.25447e-06	7	34					A	81777837	C	A	81777837	4	1	48	1	0	0	0	0	0	1	0	0	12319	922	32	2	2920	2	PPFIA2	12	81777837	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	36481	81777837	52074058	3024	7492										
SLC6A15	55117	broad.mit.edu	37	chr12	85285788	85285788	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggccatcaacaattagttCacttgtcttaaaagcatcat	5	10	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85285788C>A	ENST00000266682.5	-	2	653	c.112G>T	c.(112-114)Gaa>Taa	p.E38*	SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000450363.3_Nonsense_Mutation_p.E38*	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	38					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						ACAATTAGTTCACTTGTCTTA	0.383																																						ENST00000450363.3																			0				kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						c.(112-114)Gaa>Taa		solute carrier family 6 (neutral amino acid transporter), member 15							233	214	220					12																	85285788		2203	4300	6503	SO:0001587	stop_gained	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85285788C>A	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.112G>T	12.37:g.85285788C>A	ENSP00000266682:p.Glu38*		Somatic				SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Nonsense_Mutation_p.E38*|SLC6A15_ENST00000552192.1_Intron	p.E38*	NM_018057.6	NP_060527.2	WXS	Illumina GAIIx	Phase_I	Q9H2J7	S6A15_HUMAN			2	570	-			38					A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Nonsense_Mutation	SNP	ENST00000266682.5	37	c.112G>T	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899388	0.72754	.	.	ENSG00000072041	ENST00000266682;ENST00000450363;ENST00000549540	.	.	.	5.44	5.44	0.79542	.	0.109447	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	19.622	0.95660	0.0:1.0:0.0:0.0	.	.	.	.	X	38	.	ENSP00000266682:E38X	E	-	1	0	SLC6A15	83809919	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	2.583000	0.46094	2.702000	0.92279	0.591000	0.81541	GAA		0.383	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		21	126	1	0	1.01871e-10	1	1.25646e-10	21	126					A	85285788	C	A	85285788	4	1	48	1	0	0	0	0	0	1	0	0	14693	835	29	2	2238	2	SLC6A15	12	85285788	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3507951	85285788	48566107	3025	7493										
LRRIQ1	84125	broad.mit.edu	37	chr12	85439838	85439838	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaagaatttatgagaagtaAaaccgattgtgccactcctg	9	7	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85439838A>C	ENST00000393217.2	+	5	438	c.377A>C	c.(376-378)aAa>aCa	p.K126T		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	126										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATGAGAAGTAAAACCGATTGT	0.348																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(376-378)aAa>aCa		leucine-rich repeats and IQ motif containing 1							101	94	97					12																	85439838		2203	4300	6503	SO:0001583	missense	84125							g.chr12:85439838A>C	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.377A>C	12.37:g.85439838A>C	ENSP00000376910:p.Lys126Thr		Somatic					p.K126T	NM_001079910.1	NP_001073379.1	WXS	Illumina GAIIx	Phase_I	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	5	438	+			126					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.377A>C	CCDS41816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.035|9.035	0.988338|0.988338	0.18966|0.18966	.|.	.|.	ENSG00000133640|ENSG00000133640	ENST00000533414|ENST00000256007;ENST00000378580;ENST00000393212;ENST00000393217	.|T;T	.|0.51574	.|1.5;0.7	4.17|4.17	-4.94|-4.94	0.03057|0.03057	.|.	1.250630|1.250630	0.05846|0.05846	N|N	0.620265|0.620265	T|T	0.24431|0.24431	0.0592|0.0592	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.33694	.|0.015;0.421;0.011	.|B;B;B	.|0.29785	.|0.012;0.107;0.005	T|T	0.15263|0.15263	-1.0443|-1.0443	7|10	0.21540|0.30078	T|T	0.41|0.28	.|.	1.9598|1.9598	0.03384|0.03384	0.2129:0.4062:0.0976:0.2833|0.2129:0.4062:0.0976:0.2833	.|.	.|126;126;126	.|Q96JM4-2;Q96JM4;C9JI57	.|.;LRIQ1_HUMAN;.	Q|T	24|126	.|ENSP00000376906:K126T;ENSP00000376910:K126T	ENSP00000436898:K24Q|ENSP00000256007:K126T	K|K	+|+	1|2	0|0	LRRIQ1|LRRIQ1	83963969|83963969	0.002000|0.002000	0.14202|0.14202	0.050000|0.050000	0.19076|0.19076	0.180000|0.180000	0.23129|0.23129	0.040000|0.040000	0.13905|0.13905	-0.456000|-0.456000	0.07043|0.07043	-0.446000|-0.446000	0.05623|0.05623	AAA|AAA		0.348	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		17	23	0	0	0	1	0	17	23					C	85439838	A	C	85439838	3	2	48	1	0	0	0	0	1	0	0	0	9038	14	1	4	391	4	LRRIQ1	12	85439838	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	154050	85439838	48412057	3026	7494										
LRRIQ1	84125	broad.mit.edu	37	chr12	85449618	85449618	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaaggataaaagaagagagAaaaaagcaaaaggaagagga	12	2	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85449618A>G	ENST00000393217.2	+	8	1108	c.1047A>G	c.(1045-1047)agA>agG	p.R349R		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	349	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		aagaagagagaaaaaagcaaa	0.343																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(1045-1047)agA>agG		leucine-rich repeats and IQ motif containing 1							17	18	17					12																	85449618		2186	4253	6439	SO:0001819	synonymous_variant	84125							g.chr12:85449618A>G	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1047A>G	12.37:g.85449618A>G			Somatic					p.R349R	NM_001079910.1	NP_001073379.1	WXS	Illumina GAIIx	Phase_I	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	1108	+			349			Glu-rich.		Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.1047A>G	CCDS41816.1																																																																																				0.343	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		4	11	0	0	0	1	0	4	11					G	85449618	A	G	85449618	2	3	48	1	0	0	0	0	0	0	0	1	9038	243	9	4		4	LRRIQ1	12	85449618	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	9780	85449618	48402277	3027	7495										
LRRIQ1	84125	broad.mit.edu	37	chr12	85450583	85450583	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gataaatatagaaggcaaaaGaaatgaccaagattatgtgt	9	3	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85450583G>T	ENST00000393217.2	+	8	2073	c.2012G>T	c.(2011-2013)aGa>aTa	p.R671I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	671										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAGGCAAAAGAAATGACCAA	0.363																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(2011-2013)aGa>aTa		leucine-rich repeats and IQ motif containing 1							77	78	78					12																	85450583		2203	4300	6503	SO:0001583	missense	84125							g.chr12:85450583G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2012G>T	12.37:g.85450583G>T	ENSP00000376910:p.Arg671Ile		Somatic					p.R671I	NM_001079910.1	NP_001073379.1	WXS	Illumina GAIIx	Phase_I	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	2073	+			671					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.2012G>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	7.134	0.580425	0.13686	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.46819	0.86	5.16	-0.951	0.10369	.	1.357720	0.05087	N	0.484650	T	0.31358	0.0794	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17745	-1.0359	10	0.29301	T	0.29	.	6.0407	0.19732	0.0:0.3101:0.1475:0.5424	.	671;646	Q96JM4;C9JI57	LRIQ1_HUMAN;.	I	671;646;671	ENSP00000376910:R671I	ENSP00000256007:R671I	R	+	2	0	LRRIQ1	83974714	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.169000	0.09911	-0.111000	0.12001	0.591000	0.81541	AGA		0.363	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		14	32	1	0	4.36969e-10	1	5.32873e-10	14	32					T	85450583	G	T	85450583	3	4	48	1	0	0	0	0	1	0	0	0	9038	942	33	2	2038	2	LRRIQ1	12	85450583	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	965	85450583	48401312	3028	7496										
ALX1	8092	broad.mit.edu	37	chr12	85677427	85677427	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctatggacaactgtaacagtCtccgaatgtctcccgtgaaa	8	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85677427C>T	ENST00000316824.3	+	2	459	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	102					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CTGTAACAGTCTCCGAATGTC	0.468																																						ENST00000316824.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(304-306)Ctc>Ttc		ALX homeobox 1							112	105	107					12																	85677427		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85677427C>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.304C>T	12.37:g.85677427C>T	ENSP00000315417:p.Leu102Phe		Somatic					p.L102F	NM_006982.2	NP_008913.2	WXS	Illumina GAIIx	Phase_I	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	2	459	+			102					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.304C>T	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364407	0.82463	.	.	ENSG00000180318	ENST00000316824	D	0.92805	-3.11	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.90335	0.6976	N	0.24115	0.695	0.58432	D	0.999999	D	0.52996	0.957	P	0.49276	0.605	D	0.91005	0.4845	10	0.56958	D	0.05	.	20.0205	0.97499	0.0:1.0:0.0:0.0	.	102	Q15699	ALX1_HUMAN	F	102	ENSP00000315417:L102F	ENSP00000315417:L102F	L	+	1	0	ALX1	84201558	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.225000	0.78051	2.801000	0.96364	0.650000	0.86243	CTC		0.468	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		30	59	0	0	0	1	0	30	59					T	85677427	C	T	85677427	3	4	48	1	0	0	0	0	1	0	0	0	556	913	32	3	310	3	ALX1	12	85677427	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	226844	85677427	48174468	3029	7497										
ALX1	8092	broad.mit.edu	37	chr12	85680696	85680696	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatggccaaatacaacaagcGaaaagccattttgctgccac	7	11	0	0	rs79907632	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85680696G>A	ENST00000316824.3	+	3	752	c.597G>A	c.(595-597)gcG>gcA	p.A199A		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	199					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TACAACAAGCGAAAAGCCATT	0.368													G|||	20	0.00399361	0.0144	0	5008	,	,		14945	0.001		0	False		,,,				2504	0					ENST00000316824.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(595-597)gcG>gcA		ALX homeobox 1		G		41,4365	41.6+/-74.8	0,41,2162	121	108	112		597	-0.6	1	12	dbSNP_131	112	0,8600		0,0,4300	no	coding-synonymous	ALX1	NM_006982.2		0,41,6462	AA,AG,GG		0.0,0.9305,0.3152		199/327	85680696	41,12965	2203	4300	6503	SO:0001819	synonymous_variant	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85680696G>A	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.597G>A	12.37:g.85680696G>A			Somatic					p.A199A	NM_006982.2	NP_008913.2	WXS	Illumina GAIIx	Phase_I	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	3	752	+			199					Q546C8|Q96FH4	Silent	SNP	ENST00000316824.3	37	c.597G>A	CCDS9028.1																																																																																				0.368	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		16	26	0	0	0	1	0	16	26					A	85680696	G	A	85680696	2	1	48	1	0	0	0	0	0	0	0	1	556	1045	37	1		1	ALX1	12	85680696	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3269	85680696	48171199	3030	7498										
NTS	4922	broad.mit.edu	37	chr12	86276047	86276047	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggaaatgacaaaaatggaaAggaagaagtcataaagagaa	11	2	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:86276047A>C	ENST00000256010.6	+	4	514	c.407A>C	c.(406-408)aAg>aCg	p.K136T	NTS_ENST00000551529.1_Missense_Mutation_p.K61T	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	136					regulation of blood vessel size (GO:0050880)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)				large_intestine(2)|lung(6)	8						AAAAATGGAAAGGAAGAAGTC	0.318																																						ENST00000256010.6																			0				large_intestine(2)|lung(6)	8						c.(406-408)aAg>aCg		neurotensin							69	76	74					12																	86276047		2201	4294	6495	SO:0001583	missense	4922				regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity	g.chr12:86276047A>C		CCDS9029.1	12q21.31	2013-02-26			ENSG00000133636	ENSG00000133636		"Endogenous ligands"	8038	protein-coding gene	gene with protein product	"neuromedin N", "pro-neurotensin/neuromedin"	162650					Standard	NM_006183		Approved		uc001tag.3	P30990	OTTHUMG00000169832	ENST00000256010.6:c.407A>C	12.37:g.86276047A>C	ENSP00000256010:p.Lys136Thr		Somatic				NTS_ENST00000551529.1_Missense_Mutation_p.K61T	p.K136T	NM_006183.4	NP_006174.1	WXS	Illumina GAIIx	Phase_I	P30990	NEUT_HUMAN			4	514	+			136						Missense_Mutation	SNP	ENST00000256010.6	37	c.407A>C	CCDS9029.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.953325	0.73902	.	.	ENSG00000133636	ENST00000551529;ENST00000256010;ENST00000550879	.	.	.	5.84	5.84	0.93424	.	0.100003	0.64402	D	0.000002	T	0.73321	0.3572	M	0.61703	1.905	0.40517	D	0.980798	D	0.58970	0.984	P	0.56960	0.81	T	0.76854	-0.2805	9	0.66056	D	0.02	-25.9069	16.2233	0.82274	1.0:0.0:0.0:0.0	.	136	P30990	NEUT_HUMAN	T	61;136;81	.	ENSP00000256010:K136T	K	+	2	0	NTS	84800178	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	6.555000	0.73928	2.243000	0.73865	0.482000	0.46254	AAG		0.318	NTS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406111.2			16	35	0	0	0	1	0	16	35					C	86276047	A	C	86276047	3	2	48	1	0	0	0	0	1	0	0	0	10718	72	3	4	421	4	NTS	12	86276047	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	595351	86276047	47575848	3031	7499										
MGAT4C	25834	broad.mit.edu	37	chr12	86383317	86383317	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatgtttcatttgatgaaatTtaaacattctcttctgtgga	6	5	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:86383317T>G	ENST00000604798.1	-	6	1212	c.8A>C	c.(7-9)aAa>aCa	p.K3T	MGAT4C_ENST00000552435.2_Missense_Mutation_p.K3T|MGAT4C_ENST00000548651.1_Missense_Mutation_p.K3T|MGAT4C_ENST00000393205.2_Missense_Mutation_p.K32T|MGAT4C_ENST00000332156.1_Missense_Mutation_p.K3T|MGAT4C_ENST00000549405.2_Missense_Mutation_p.K3T|MGAT4C_ENST00000552808.2_Missense_Mutation_p.K3T			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	3					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTGATGAAATTTAAACATTCT	0.318																																						ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(7-9)aAa>aCa		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							39	38	39					12																	86383317		2202	4295	6497	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86383317T>G		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.8A>C	12.37:g.86383317T>G	ENSP00000474896:p.Lys3Thr		Somatic				MGAT4C_ENST00000549405.2_Missense_Mutation_p.K3T|MGAT4C_ENST00000393205.2_Missense_Mutation_p.K32T|MGAT4C_ENST00000552808.2_Missense_Mutation_p.K3T|MGAT4C_ENST00000548651.1_Missense_Mutation_p.K3T|MGAT4C_ENST00000332156.1_Missense_Mutation_p.K3T|MGAT4C_ENST00000552435.2_Missense_Mutation_p.K3T	p.K3T			WXS	Illumina GAIIx	Phase_I	Q9UBM8	MGT4C_HUMAN			6	1212	-			3					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.8A>C	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.130071	0.37630	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225;ENST00000552435	T;T;T;T;T;T	0.47869	1.43;1.4;1.43;1.43;1.43;0.83	5.69	3.15	0.36227	.	0.644375	0.15358	N	0.266568	T	0.28001	0.0690	N	0.14661	0.345	0.29032	N	0.885624	B;B	0.15473	0.013;0.001	B;B	0.08055	0.003;0.001	T	0.15292	-1.0442	10	0.49607	T	0.09	-18.5343	6.6847	0.23138	0.1511:0.0:0.295:0.5539	.	32;3	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	T	3;32;3;3;3;3;3;3	ENSP00000331664:K3T;ENSP00000376900:K32T;ENSP00000449022:K3T;ENSP00000446647:K3T;ENSP00000447253:K3T;ENSP00000449172:K3T	ENSP00000331664:K3T	K	-	2	0	MGAT4C	84907448	0.970000	0.33590	1.000000	0.80357	0.989000	0.77384	1.045000	0.30341	0.941000	0.37499	0.533000	0.62120	AAA		0.318	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		9	16	0	0	0	1	0	9	16					G	86383317	T	G	86383317	3	3	48	1	0	0	0	0	1	0	0	0	9556	1841	64	4	1440	4	MGAT4C	12	86383317	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	107270	86383317	47468578	3032	7500										
CEP290	80184	broad.mit.edu	37	chr12	88465107	88465107	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattttctaagtcaagatttCtcttttttaattcttccaat	2	8	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:88465107C>A	ENST00000552810.1	-	43	6318	c.5975G>T	c.(5974-5976)aGa>aTa	p.R1992I	CEP290_ENST00000309041.7_Missense_Mutation_p.R1994I|CEP290_ENST00000397838.3_Missense_Mutation_p.R1052I|CEP290_ENST00000547691.2_Missense_Mutation_p.R1052I	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1992					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTCAAGATTTCTCTTTTTTAA	0.348																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(5974-5976)aGa>aTa		centrosomal protein 290kDa							96	86	89					12																	88465107		1800	4066	5866	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.chr12:88465107C>A	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.5975G>T	12.37:g.88465107C>A	ENSP00000448012:p.Arg1992Ile		Somatic				CEP290_ENST00000547691.2_Missense_Mutation_p.R1052I|CEP290_ENST00000397838.3_Missense_Mutation_p.R1052I|CEP290_ENST00000309041.7_Missense_Mutation_p.R1994I	p.R1992I	NM_025114.3	NP_079390.3	WXS	Illumina GAIIx	Phase_I	O15078	CE290_HUMAN			43	6318	-			1992					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.5975G>T	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209865	0.58343	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.66638	0.37;-0.22;-0.22;0.37	5.23	2.18	0.27775	.	0.176151	0.64402	D	0.000011	T	0.58235	0.2108	M	0.63843	1.955	0.46203	D	0.998927	P	0.43633	0.813	B	0.39904	0.313	T	0.55903	-0.8067	10	0.45353	T	0.12	.	6.8963	0.24257	0.0:0.6072:0.1174:0.2754	.	1992	O15078	CE290_HUMAN	I	1052;1992;1994;1052	ENSP00000446905:R1052I;ENSP00000448012:R1992I;ENSP00000308021:R1994I;ENSP00000380938:R1052I	ENSP00000308021:R1994I	R	-	2	0	CEP290	86989238	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.587000	0.23909	0.686000	0.31488	0.484000	0.47621	AGA		0.348	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		13	18	1	0	0.000151284	1	0.00016287	13	18					A	88465107	C	A	88465107	3	1	48	1	0	0	0	0	1	0	0	0	3255	913	32	2	1512	2	CEP290	12	88465107	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2081790	88465107	45386788	3033	7501										
TMTC3	160418	broad.mit.edu	37	chr12	88542259	88542259	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aactttatttcaaaatgactTctggggaacccctatgtctg	7	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:88542259T>C	ENST00000266712.6	+	2	387	c.167T>C	c.(166-168)tTc>tCc	p.F56S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	56					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						CAAAATGACTTCTGGGGAACC	0.313																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(166-168)tTc>tCc		transmembrane and tetratricopeptide repeat containing 3							79	76	77					12																	88542259		2203	4300	6503	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88542259T>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.167T>C	12.37:g.88542259T>C	ENSP00000266712:p.Phe56Ser		Somatic					p.F56S	NM_181783.3	NP_861448.2	WXS	Illumina GAIIx	Phase_I	Q6ZXV5	TMTC3_HUMAN			2	387	+			56					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.167T>C	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.678558	0.88542	.	.	ENSG00000139324	ENST00000549011;ENST00000266712;ENST00000551088	D;T	0.91792	-2.91;-0.53	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.96691	0.8920	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97541	1.0086	10	0.87932	D	0	-13.129	15.4472	0.75240	0.0:0.0:0.0:1.0	.	56	Q6ZXV5-2	.	S	56	ENSP00000447640:F56S;ENSP00000266712:F56S	ENSP00000266712:F56S	F	+	2	0	TMTC3	87066390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.010000	0.88615	2.063000	0.61619	0.477000	0.44152	TTC		0.313	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		10	15	0	0	0	1	0	10	15					C	88542259	T	C	88542259	3	2	48	1	0	0	0	0	1	0	0	0	16277	1783	62	4	169	4	TMTC3	12	88542259	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	77152	88542259	45309636	3034	7502										
KITLG	4254	broad.mit.edu	37	chr12	88910206	88910206	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caatggatctattaaaaattCtaaagaattcttcaggagta	6	5	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:88910206C>A	ENST00000228280.5	-	5	607	c.425G>T	c.(424-426)aGa>aTa	p.R142I	KITLG_ENST00000347404.5_Missense_Mutation_p.R142I|KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	142					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|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)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						ATTAAAAATTCTAAAGAATTC	0.343									Testicular Cancer, Familial Clustering of																													ENST00000347404.5																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						c.(424-426)aGa>aTa		KIT ligand							55	62	59					12																	88910206		2200	4297	6497	SO:0001583	missense	4254	Testicular Cancer, Familial Clustering of	Familial Cancer Database		cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding	g.chr12:88910206C>A	M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"mast cell growth factor", "stem cell factor", "steel factor", "familial progressive hyperpigmentation 2"	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.425G>T	12.37:g.88910206C>A	ENSP00000228280:p.Arg142Ile		Somatic				KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000228280.5_Missense_Mutation_p.R142I|KITLG_ENST00000357116.4_Intron	p.R142I	NM_003994.5	NP_003985.2	WXS	Illumina GAIIx	Phase_I	P21583	SCF_HUMAN			5	997	-			142					A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	ENST00000228280.5	37	c.425G>T	CCDS31868.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924527	0.52653	.	.	ENSG00000049130	ENST00000378535;ENST00000228280;ENST00000347404	T;T	0.64803	-0.12;-0.12	4.96	4.07	0.47477	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.431810	0.30093	N	0.010422	T	0.48095	0.1481	L	0.43152	1.355	0.44261	D	0.997119	P;P	0.43607	0.775;0.812	B;B	0.34652	0.18;0.187	T	0.49597	-0.8923	10	0.54805	T	0.06	0.1007	8.7597	0.34667	0.0:0.8215:0.0:0.1785	.	142;142	P21583-2;P21583	.;SCF_HUMAN	I	107;142;142	ENSP00000228280:R142I;ENSP00000054216:R142I	ENSP00000228280:R142I	R	-	2	0	KITLG	87434337	0.995000	0.38212	0.998000	0.56505	0.998000	0.95712	1.036000	0.30228	1.079000	0.41038	0.591000	0.81541	AGA		0.343	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406424.2	NM_003994		14	37	1	0	1.36491e-13	1	1.75346e-13	14	37					A	88910206	C	A	88910206	3	1	48	1	0	0	0	0	1	0	0	0	8339	913	32	2	416	2	KITLG	12	88910206	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	367947	88910206	44941689	3035	7503										
GALNT4	8693	broad.mit.edu	37	chr12	89917476	89917476	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggggacagaatgccactgaAatgttaaacgccagtcaaac	10	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:89917476A>C	ENST00000529983.2	-	1	1107	c.851T>G	c.(850-852)tTt>tGt	p.F284C	POC1B_ENST00000549035.1_Intron|POC1B_ENST00000313546.3_Intron|GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.F281C|POC1B-GALNT4_ENST00000547474.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	284					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)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						ATGCCACTGAAATGTTAAACG	0.458																																						ENST00000548729.1																			0											c.(841-843)tTt>tGt									71	70	70					12																	89917476		1902	4133	6035	SO:0001583	missense	0							g.chr12:89917476A>C	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.851T>G	12.37:g.89917476A>C	ENSP00000436604:p.Phe284Cys		Somatic				POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000547474.1_Intron|POC1B-GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000541909.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.F284C	p.F281C	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1	WXS	Illumina GAIIx	Phase_I					3	1144	-								B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	c.842T>G	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.824632	0.71143	.	.	ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000529983	T;T	0.61859	0.07;0.07	5.77	5.77	0.91146	Glycosyl transferase, family 2 (1);	.	.	.	.	T	0.79441	0.4446	M	0.89163	3.01	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83509	0.0079	9	0.87932	D	0	.	13.8304	0.63377	1.0:0.0:0.0:0.0	.	281;284	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	C	281;284	ENSP00000447852:F281C;ENSP00000436604:F284C	ENSP00000436604:F284C	F	-	2	0	GALNT4;RP11-1109F11.4	88441607	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.225000	0.95219	2.201000	0.70794	0.533000	0.62120	TTT		0.458	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		24	40	0	0	0	1	0	24	40					C	89917476	A	C	89917476	3	2	48	1	0	0	0	0	1	0	0	0	6223	14	1	4	889	4	GALNT4	12	89917476	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1007270	89917476	43934419	3036	7504										
ATP2B1	490	broad.mit.edu	37	chr12	89992944	89992944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccacaagatttggccacgccGcaactccctttcagcgtgat	8	15	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:89992944G>A	ENST00000428670.3	-	20	3757	c.3301C>T	c.(3301-3303)Cgg>Tgg	p.R1101W	ATP2B1_ENST00000348959.3_Missense_Mutation_p.R1065W|ATP2B1_ENST00000359142.3_Missense_Mutation_p.R1101W|ATP2B1_ENST00000261173.2_Missense_Mutation_p.R1101W|ATP2B1_ENST00000393164.2_Missense_Mutation_p.R844W			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1101	Calmodulin-binding subdomain A.				blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TGGCCACGCCGCAACTCCCTT	0.473																																						ENST00000428670.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(3301-3303)Cgg>Tgg		ATPase, Ca++ transporting, plasma membrane 1							142	124	130					12																	89992944		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.chr12:89992944G>A	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3301C>T	12.37:g.89992944G>A	ENSP00000392043:p.Arg1101Trp		Somatic				ATP2B1_ENST00000359142.3_Missense_Mutation_p.R1101W|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R1065W|ATP2B1_ENST00000393164.2_Missense_Mutation_p.R844W|ATP2B1_ENST00000261173.2_Missense_Mutation_p.R1101W	p.R1101W			WXS	Illumina GAIIx	Phase_I	P20020	AT2B1_HUMAN			20	3757	-			1101			Calmodulin-binding subdomain A.		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.3301C>T	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696196	0.88830	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.96073	-3.51;-3.9;-3.47;-3.51;-3.66	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.97701	0.9246	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.987;0.999;0.999	P;D;D	0.78314	0.711;0.982;0.991	D	0.97796	1.0241	10	0.87932	D	0	-22.2493	20.4777	0.99188	0.0:0.0:1.0:0.0	.	1101;1101;1065	P20020-3;P20020-2;P20020-6	.;.;.	W	1101;1065;1101;1101;844	ENSP00000261173:R1101W;ENSP00000343599:R1065W;ENSP00000352054:R1101W;ENSP00000392043:R1101W;ENSP00000376869:R844W	ENSP00000261173:R1101W	R	-	1	2	ATP2B1	88517075	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.503000	0.73699	2.840000	0.97914	0.655000	0.94253	CGG		0.473	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		16	93	0	0	0	1	0	16	93					A	89992944	G	A	89992944	3	1	48	1	0	0	0	0	1	0	0	0	1139	1086	38	1	527	1	ATP2B1	12	89992944	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	75468	89992944	43858951	3037	7505										
C12orf12	196477	broad.mit.edu	37	chr12	91347382	91347382	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgggtttaaaaaagtgcagcTtataaagttctctctctttt	7	6	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:91347382T>G	ENST00000358859.2	-	1	1571	c.1138A>C	c.(1138-1140)Agc>Cgc	p.S380R	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	380																	AAAGTGCAGCTTATAAAGTTC	0.433																																						ENST00000358859.2																			0											c.(1138-1140)Agc>Cgc		coiled-coil glutamate-rich protein 1							106	111	109					12																	91347382		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347382T>G	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.1138A>C	12.37:g.91347382T>G	ENSP00000351727:p.Ser380Arg		Somatic				CCER1_ENST00000548187.1_Intron	p.S380R	NM_152638.2	NP_689851.1	WXS	Illumina GAIIx	Phase_I					1	1571	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.1138A>C	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	T	6.659	0.490077	0.12702	.	.	ENSG00000197651	ENST00000358859	T	0.22945	1.93	5.41	0.398	0.16319	.	0.426217	0.17329	N	0.178195	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	B	0.25169	0.119	B	0.24155	0.051	T	0.18935	-1.0321	10	0.72032	D	0.01	-11.0662	3.529	0.07770	0.1576:0.2586:0.0:0.5837	.	380	Q8TC90	CL012_HUMAN	R	380	ENSP00000351727:S380R	ENSP00000351727:S380R	S	-	1	0	C12orf12	89871513	0.185000	0.23213	0.005000	0.12908	0.009000	0.06853	0.188000	0.17018	-0.075000	0.12798	0.482000	0.46254	AGC		0.433	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		40	51	0	0	0	1	0	40	51					G	91347382	T	G	91347382	3	3	48	1	0	0	0	0	1	0	0	0	1678	1609	56	4	86	4	C12orf12	12	91347382	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1354438	91347382	42504513	3038	7506										
KERA	11081	broad.mit.edu	37	chr12	91449541	91449541	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccactaatttgttgttctgtAggtcaagaagggtcaggttc	11	7	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:91449541A>C	ENST00000266719.3	-	2	765	c.518T>G	c.(517-519)cTa>cGa	p.L173R		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	173					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						GTTGTTCTGTAGGTCAAGAAG	0.403																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(517-519)cTa>cGa		keratocan							118	113	115					12																	91449541		2203	4299	6502	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449541A>C	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.518T>G	12.37:g.91449541A>C	ENSP00000266719:p.Leu173Arg		Somatic					p.L173R	NM_007035.3	NP_008966.1	WXS	Illumina GAIIx	Phase_I	O60938	KERA_HUMAN			2	765	-			173						Missense_Mutation	SNP	ENST00000266719.3	37	c.518T>G	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068390	0.76301	.	.	ENSG00000139330	ENST00000266719	T	0.77489	-1.1	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.93080	0.7797	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95580	0.8645	10	0.87932	D	0	-11.5636	16.6438	0.85155	1.0:0.0:0.0:0.0	.	173	O60938	KERA_HUMAN	R	173	ENSP00000266719:L173R	ENSP00000266719:L173R	L	-	2	0	KERA	89973672	1.000000	0.71417	0.992000	0.48379	0.953000	0.61014	8.962000	0.93254	2.333000	0.79357	0.533000	0.62120	CTA		0.403	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		9	111	0	0	0	1	0	9	111					C	91449541	A	C	91449541	3	2	48	1	0	0	0	0	1	0	0	0	8152	420	15	4	548	4	KERA	12	91449541	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	102159	91449541	42402354	3039	7507										
LUM	4060	broad.mit.edu	37	chr12	91502546	91502546	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggttattcctaaggtaaaGatacttgattccaggaggca	10	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:91502546G>T	ENST00000266718.4	-	2	665	c.211C>A	c.(211-213)Ctt>Att	p.L71I	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	71					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CTAAGGTAAAGATACTTGATT	0.413																																						ENST00000266718.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(211-213)Ctt>Att		lumican							102	102	102					12																	91502546		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502546G>T	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6724	protein-coding gene	gene with protein product	"lumican proteoglycan"	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.211C>A	12.37:g.91502546G>T	ENSP00000266718:p.Leu71Ile		Somatic				LUM_ENST00000548071.1_Intron	p.L71I	NM_002345.3	NP_002336.1	WXS	Illumina GAIIx	Phase_I	P51884	LUM_HUMAN			2	665	-			71					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.211C>A	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244990	0.79912	.	.	ENSG00000139329	ENST00000266718	T	0.78595	-1.19	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	M	0.83012	2.62	0.58432	D	0.999998	P	0.49696	0.927	P	0.54706	0.759	D	0.86844	0.2019	10	0.66056	D	0.02	-12.9744	13.3479	0.60584	0.0721:0.0:0.9279:0.0	.	71	P51884	LUM_HUMAN	I	71	ENSP00000266718:L71I	ENSP00000266718:L71I	L	-	1	0	LUM	90026677	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.637000	0.83313	2.831000	0.97527	0.650000	0.86243	CTT		0.413	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		4	38	1	0	1	1	1	4	38					T	91502546	G	T	91502546	3	4	48	1	0	0	0	0	1	0	0	0	9094	942	33	2	813	2	LUM	12	91502546	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	53005	91502546	42349349	3040	7508										
CLLU1OS	574016	broad.mit.edu	37	chr12	92821901	92821901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttaaggcattccttaagttCgttgtgccccaatttgttca	7	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:92821901C>T	ENST00000378487.2	-	1	23	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000472839.2_Intron|CLLU1OS_ENST00000538965.1_Missense_Mutation_p.E8K|CLLU1_ENST00000378485.1_Intron	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	8										large_intestine(1)|lung(7)	8						tccttaagttcgttgtgcccc	0.423																																						ENST00000378487.2																			0				large_intestine(1)|lung(7)	8						c.(22-24)Gaa>Aaa		chronic lymphocytic leukemia up-regulated 1 opposite strand							240	200	214					12																	92821901		2203	4300	6503	SO:0001583	missense	574016							g.chr12:92821901C>T	AJ845168	CCDS31871.1	12q22	2006-03-30	2006-03-30		ENSG00000205057	ENSG00000205057			24070	protein-coding gene	gene with protein product			"chronic lymphocytic leukemia up-regulated 1 overlapping strand"				Standard	NM_001025232		Approved		uc001tcb.1	Q5K130	OTTHUMG00000161990	ENST00000378487.2:c.22G>A	12.37:g.92821901C>T	ENSP00000367748:p.Glu8Lys		Somatic				CLLU1_ENST00000472839.2_Intron|RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000378485.1_Intron|CLLU1OS_ENST00000538965.1_Missense_Mutation_p.E8K	p.E8K	NM_001025232.1	NP_001020403.1	WXS	Illumina GAIIx	Phase_I	Q5K130	CLU1O_HUMAN			1	23	-			8						Missense_Mutation	SNP	ENST00000378487.2	37	c.22G>A	CCDS31871.1	.	.	.	.	.	.	.	.	.	.	C	4.569	0.105784	0.08780	.	.	ENSG00000205057	ENST00000378487;ENST00000538965	.	.	.	2.81	0.932	0.19466	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	P	0.35700	0.516	B	0.25291	0.059	T	0.12785	-1.0534	8	0.87932	D	0	.	7.4211	0.27073	0.181:0.6388:0.1802:0.0	.	8	Q5K130	CLU1O_HUMAN	K	8	.	ENSP00000367748:E8K	E	-	1	0	CLLU1OS	91346032	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.370000	0.20433	-0.036000	0.13669	-1.507000	0.00952	GAA		0.423	CLLU1OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366646.1			16	24	0	0	0	1	0	16	24					T	92821901	C	T	92821901	3	4	48	1	0	0	0	0	1	0	0	0	3543	893	31	1	295	1	CLLU1OS	12	92821901	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1319355	92821901	41029994	3041	7509										
C12orf74	338809	broad.mit.edu	37	chr12	93100661	93100661	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggcttcccatgttacctttCgaagagcctgccaggaagcc	11	13	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93100661C>A	ENST00000397833.3	+	2	705	c.254C>A	c.(253-255)tCg>tAg	p.S85*	C12orf74_ENST00000544406.2_Nonsense_Mutation_p.S85*	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	85										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						TGTTACCTTTCGAAGAGCCTG	0.562																																						ENST00000544406.2																			0				kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						c.(253-255)tCg>tAg		chromosome 12 open reading frame 74							45	47	47					12																	93100661		1889	4113	6002	SO:0001587	stop_gained	338809							g.chr12:93100661C>A	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.254C>A	12.37:g.93100661C>A	ENSP00000380933:p.Ser85*		Somatic				C12orf74_ENST00000397833.3_Nonsense_Mutation_p.S85*	p.S85*			WXS	Illumina GAIIx	Phase_I	Q32Q52	CL074_HUMAN			2	520	+			85					F5H4P0	Nonsense_Mutation	SNP	ENST00000397833.3	37	c.254C>A	CCDS41819.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153013	0.94645	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.11	2.29	0.28610	.	.	.	.	.	.	.	.	.	.	.	0.41655	D	0.98915	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6469	0.22941	0.0:0.7846:0.0:0.2154	.	.	.	.	X	85	.	ENSP00000380933:S85X	S	+	2	0	C12orf74	91624792	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.041000	0.12084	0.692000	0.31613	0.455000	0.32223	TCG		0.562	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671		21	60	1	0	1.2644e-06	1	1.4261e-06	21	60					A	93100661	C	A	93100661	4	1	48	1	0	0	0	0	0	1	0	0	1716	893	31	2	256	2	C12orf74	12	93100661	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	278760	93100661	40751234	3042	7510										
PLEKHG7	440107	broad.mit.edu	37	chr12	93150140	93150140	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caccaaccagcagacaccttCtctatgaaggaaaattaact	5	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93150140C>T	ENST00000344636.3	+	8	857	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	225	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						CAGACACCTTCTCTATGAAGG	0.363																																						ENST00000344636.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						c.(673-675)Ctc>Ttc		pleckstrin homology domain containing, family G (with RhoGef domain) member 7							88	88	88					12																	93150140		2203	4300	6503	SO:0001583	missense	440107				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr12:93150140C>T	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"Pleckstrin homology (PH) domain containing"	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.673C>T	12.37:g.93150140C>T	ENSP00000344961:p.Leu225Phe		Somatic					p.L225F	NM_001004330.2	NP_001004330.1	WXS	Illumina GAIIx	Phase_I	Q6ZR37	PKHG7_HUMAN			8	857	+			225			PH.		B2RNR7	Missense_Mutation	SNP	ENST00000344636.3	37	c.673C>T	CCDS31873.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414148	0.62511	.	.	ENSG00000187510	ENST00000344636	T	0.68181	-0.31	4.92	1.96	0.26148	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.135938	0.50627	N	0.000117	T	0.70762	0.3261	M	0.85373	2.75	0.46654	D	0.999148	D	0.53151	0.958	P	0.50490	0.642	T	0.66716	-0.5853	10	0.46703	T	0.11	-28.4677	4.8111	0.13344	0.2855:0.5163:0.1237:0.0745	.	225	Q6ZR37	PKHG7_HUMAN	F	225	ENSP00000344961:L225F	ENSP00000344961:L225F	L	+	1	0	PLEKHG7	91674271	0.857000	0.29778	0.985000	0.45067	0.979000	0.70002	0.962000	0.29280	0.091000	0.17302	0.555000	0.69702	CTC		0.363	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		19	34	0	0	0	1	0	19	34					T	93150140	C	T	93150140	3	4	48	1	0	0	0	0	1	0	0	0	12084	913	32	3	699	3	PLEKHG7	12	93150140	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	49479	93150140	40701755	3043	7511										
PLEKHG7	440107	broad.mit.edu	37	chr12	93163929	93163929	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagagtcaggaaaccaagaaAatatctttattcacattgcc	6	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93163929A>C	ENST00000344636.3	+	12	1282	c.1098A>C	c.(1096-1098)aaA>aaC	p.K366N		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	366							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AAACCAAGAAAATATCTTTAT	0.318																																						ENST00000344636.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						c.(1096-1098)aaA>aaC		pleckstrin homology domain containing, family G (with RhoGef domain) member 7							97	99	99					12																	93163929		2203	4299	6502	SO:0001583	missense	440107				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr12:93163929A>C	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"Pleckstrin homology (PH) domain containing"	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.1098A>C	12.37:g.93163929A>C	ENSP00000344961:p.Lys366Asn		Somatic					p.K366N	NM_001004330.2	NP_001004330.1	WXS	Illumina GAIIx	Phase_I	Q6ZR37	PKHG7_HUMAN			12	1282	+			366					B2RNR7	Missense_Mutation	SNP	ENST00000344636.3	37	c.1098A>C	CCDS31873.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.470458	0.26423	.	.	ENSG00000187510	ENST00000344636	T	0.34275	1.37	6.07	0.792	0.18625	.	0.374853	0.27210	N	0.020408	T	0.17789	0.0427	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.11108	-1.0601	10	0.31617	T	0.26	-0.0609	2.1712	0.03850	0.5104:0.2432:0.1295:0.1169	.	366	Q6ZR37	PKHG7_HUMAN	N	366	ENSP00000344961:K366N	ENSP00000344961:K366N	K	+	3	2	PLEKHG7	91688060	0.483000	0.25956	0.050000	0.19076	0.483000	0.33249	0.987000	0.29603	-0.094000	0.12374	-0.313000	0.08912	AAA		0.318	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		24	45	0	0	0	1	0	24	45					C	93163929	A	C	93163929	3	2	48	1	0	0	0	0	1	0	0	0	12084	11	1	4	1140	4	PLEKHG7	12	93163929	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	13789	93163929	40687966	3044	7512										
EEA1	8411	broad.mit.edu	37	chr12	93169899	93169899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaagatatttccacactgtCggcagtgatgctgtaaatga	10	7	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93169899C>T	ENST00000322349.8	-	29	4388	c.4124G>A	c.(4123-4125)cGa>cAa	p.R1375Q		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1375					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						TCCACACTGTCGGCAGTGATG	0.358																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(4123-4125)cGa>cAa		early endosome antigen 1							69	64	65					12																	93169899		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.chr12:93169899C>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.4124G>A	12.37:g.93169899C>T	ENSP00000317955:p.Arg1375Gln		Somatic					p.R1375Q	NM_003566.3	NP_003557.2	WXS	Illumina GAIIx	Phase_I	Q15075	EEA1_HUMAN			29	4388	-			1375					Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.4124G>A	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156484	0.94686	.	.	ENSG00000102189	ENST00000322349	T	0.81078	-1.45	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.56097	D	0.000031	D	0.94052	0.8094	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96032	0.9017	10	0.87932	D	0	.	19.3674	0.94469	0.0:1.0:0.0:0.0	.	1375	Q15075	EEA1_HUMAN	Q	1375	ENSP00000317955:R1375Q	ENSP00000317955:R1375Q	R	-	2	0	EEA1	91694030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.565000	0.86533	0.655000	0.94253	CGA		0.358	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		9	28	0	0	0	1	0	9	28					T	93169899	C	T	93169899	3	4	48	1	0	0	0	0	1	0	0	0	4923	884	31	1	115	1	EEA1	12	93169899	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5970	93169899	40681996	3045	7513										
NUDT4	11163	broad.mit.edu	37	chr12	93792607	93792607	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagtcactgaaatattagaaGattgggaagattctgttaat	9	4	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93792607G>A	ENST00000415493.2	+	4	743	c.316G>A	c.(316-318)Gat>Aat	p.D106N	NUDT4_ENST00000547014.1_Missense_Mutation_p.D55N|NUDT4_ENST00000549992.1_Missense_Mutation_p.D54N|NUDT4_ENST00000548662.1_Missense_Mutation_p.D54N|NUDT4_ENST00000337179.5_Missense_Mutation_p.D107N	NM_019094.4	NP_061967.3	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	106	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				calcium-mediated signaling (GO:0019722)|cyclic nucleotide metabolic process (GO:0009187)|cyclic-nucleotide-mediated signaling (GO:0019935)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|regulation of RNA export from nucleus (GO:0046831)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)			endometrium(2)|kidney(1)|lung(2)	5						AATATTAGAAGATTGGGAAGA	0.323																																						ENST00000337179.5																			0				endometrium(2)|kidney(1)|lung(2)	5						c.(319-321)Gat>Aat		nudix (nucleoside diphosphate linked moiety X)-type motif 4							97	99	98					12																	93792607		2203	4300	6503	SO:0001583	missense	11163				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chr12:93792607G>A	AF067803	CCDS9044.1, CCDS44952.1, CCDS73504.1	12q21	2008-09-04			ENSG00000173598	ENSG00000173598		"Nudix motif containing"	8051	protein-coding gene	gene with protein product	"diphosphoinositol polyphosphate phosphohydrolase type 2"	609229				10777568, 11376937	Standard	XM_005268595		Approved	DIPP2, HDCMB47P, KIAA0487, DIPP2alpha, DIPP2beta	uc001tcm.3	Q9NZJ9	OTTHUMG00000170155	ENST00000415493.2:c.316G>A	12.37:g.93792607G>A	ENSP00000406612:p.Asp106Asn		Somatic				NUDT4_ENST00000547014.1_Missense_Mutation_p.D55N|NUDT4_ENST00000415493.2_Missense_Mutation_p.D106N|NUDT4_ENST00000548662.1_Missense_Mutation_p.D54N|NUDT4_ENST00000549992.1_Missense_Mutation_p.D54N	p.D107N	NM_199040.2	NP_950241.1	WXS	Illumina GAIIx	Phase_I	Q9NZJ9	NUDT4_HUMAN			4	759	+			106			Nudix hydrolase.		B7Z916|Q4AEJ6|Q53EZ2|Q68DD7|Q9NPC5|Q9NS30|Q9NZK0|Q9NZK1	Missense_Mutation	SNP	ENST00000415493.2	37	c.319G>A	CCDS44952.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211561	0.95069	.	.	ENSG00000173598	ENST00000337179;ENST00000415493;ENST00000550056;ENST00000549992;ENST00000548662;ENST00000547014;ENST00000546925	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.23	5.23	0.72850	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.088474	0.85682	D	0.000000	T	0.53802	0.1819	L	0.50333	1.59	0.80722	D	1	P;P	0.44281	0.797;0.831	P;P	0.52672	0.581;0.706	T	0.48636	-0.9018	10	0.41790	T	0.15	-9.3854	19.159	0.93524	0.0:0.0:1.0:0.0	.	107;106	Q9NZJ9-2;Q9NZJ9	.;NUDT4_HUMAN	N	107;106;54;54;54;55;54	ENSP00000338352:D107N;ENSP00000406612:D106N;ENSP00000448504:D54N;ENSP00000449552:D54N;ENSP00000449724:D54N;ENSP00000448032:D55N;ENSP00000448620:D54N	ENSP00000338352:D107N	D	+	1	0	NUDT4	92316738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.403000	0.73264	2.587000	0.87381	0.561000	0.74099	GAT		0.323	NUDT4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407702.1	NM_019094		8	21	0	0	0	1	0	8	21					A	93792607	G	A	93792607	3	1	48	1	0	0	0	0	1	0	0	0	10750	942	33	3	333	3	NUDT4	12	93792607	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	622708	93792607	40059288	3046	7514										
SOCS2	8835	broad.mit.edu	37	chr12	93968612	93968612	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agactacctactaacaatatCtgttaaaacatcagctggac	5	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93968612C>A	ENST00000340600.2	+	3	852	c.254C>A	c.(253-255)tCt>tAt	p.S85Y	SOCS2_ENST00000536696.2_Missense_Mutation_p.S85Y|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000549122.1_Missense_Mutation_p.S85Y|SOCS2_ENST00000549206.1_Missense_Mutation_p.S85Y|SOCS2_ENST00000551556.1_Missense_Mutation_p.S85Y	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	85	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)	p.S85C(1)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						CTAACAATATCTGTTAAAACA	0.363																																						ENST00000340600.2																			1	Substitution - Missense(1)	p.S85C(1)	cervix(1)	cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						c.(253-255)tCt>tAt		suppressor of cytokine signaling 2							80	77	78					12																	93968612		2203	4300	6503	SO:0001583	missense	8835				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity	g.chr12:93968612C>A	AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"Suppressors of cytokine signaling", "SH2 domain containing"	19382	protein-coding gene	gene with protein product	"STAT-induced STAT inhibitor-2"	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.254C>A	12.37:g.93968612C>A	ENSP00000339428:p.Ser85Tyr		Somatic				SOCS2_ENST00000536696.2_Missense_Mutation_p.S85Y|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000549206.1_Missense_Mutation_p.S85Y|SOCS2_ENST00000549122.1_Missense_Mutation_p.S85Y|SOCS2_ENST00000551556.1_Missense_Mutation_p.S85Y	p.S85Y	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	WXS	Illumina GAIIx	Phase_I	O14508	SOCS2_HUMAN			3	852	+			85			SH2.		A8K3D1|O14542|O95102|Q9UKS5	Missense_Mutation	SNP	ENST00000340600.2	37	c.254C>A	CCDS9047.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384497	0.82792	.	.	ENSG00000120833	ENST00000340600;ENST00000549206;ENST00000536696;ENST00000539385;ENST00000548091;ENST00000549122;ENST00000549887;ENST00000551556	D;D;D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21	5.84	5.84	0.93424	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.97504	0.9183	H	0.98646	4.29	0.80722	D	1	P	0.43231	0.801	P	0.48873	0.593	D	0.98319	1.0527	10	0.87932	D	0	-0.7853	20.1346	0.98019	0.0:1.0:0.0:0.0	.	85	O14508	SOCS2_HUMAN	Y	85;85;85;33;85;85;85;85	ENSP00000339428:S85Y;ENSP00000448815:S85Y;ENSP00000442898:S85Y;ENSP00000447902:S85Y;ENSP00000447161:S85Y;ENSP00000448611:S85Y;ENSP00000449227:S85Y	ENSP00000339428:S85Y	S	+	2	0	SOCS2	92492743	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.554000	0.82212	2.765000	0.95021	0.655000	0.94253	TCT		0.363	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407731.2			20	30	1	0	8.34094e-07	1	9.42356e-07	20	30					A	93968612	C	A	93968612	3	1	48	1	0	0	0	0	1	0	0	0	14929	913	32	2	260	2	SOCS2	12	93968612	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	176005	93968612	39883283	3047	7515										
CRADD	8738	broad.mit.edu	37	chr12	94243956	94243956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttcatccgttggcggcagcGcttcgggaagcaggccacct	13	14	1	0	rs141179774		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94243956G>A	ENST00000542893.2	+	3	827	c.509G>A	c.(508-510)cGc>cAc	p.R170H	CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000332896.3_Missense_Mutation_p.R170H|CRADD_ENST00000548483.1_Intron			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	170	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						TGGCGGCAGCGCTTCGGGAAG	0.637													G|||	1	0.000199681	0	0	5008	,	,		18459	0		0.001	False		,,,				2504	0					ENST00000542893.2																			0				endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						c.(508-510)cGc>cAc		CASP2 and RIPK1 domain containing adaptor with death domain		G	HIS/ARG	0,4406		0,0,2203	47	44	45		509	4.7	1	12	dbSNP_134	45	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CRADD	NM_003805.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	170/200	94243956	2,13004	2203	4300	6503	SO:0001583	missense	8738				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging	g.chr12:94243956G>A	U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"RIP-associated ICH1/CED3-homologous protein with death domain"	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.509G>A	12.37:g.94243956G>A	ENSP00000439068:p.Arg170His		Somatic				CRADD_ENST00000332896.3_Missense_Mutation_p.R170H|CRADD_ENST00000548483.1_Intron|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548330.1_3'UTR	p.R170H			WXS	Illumina GAIIx	Phase_I	P78560	CRADD_HUMAN			3	827	+			170			Death.		B7Z2Q5	Missense_Mutation	SNP	ENST00000542893.2	37	c.509G>A	CCDS9048.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581119	0.86748	0.0	2.33E-4	ENSG00000169372	ENST00000332896;ENST00000542893	D;D	0.86865	-2.18;-2.18	5.76	4.69	0.59074	Death (3);DEATH-like (2);	0.275697	0.37261	N	0.002177	D	0.88291	0.6397	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	P	0.49597	0.616	D	0.89748	0.3938	10	0.87932	D	0	-17.7443	15.6915	0.77457	0.0762:0.0:0.9238:0.0	.	170	P78560	CRADD_HUMAN	H	170	ENSP00000327647:R170H;ENSP00000439068:R170H	ENSP00000327647:R170H	R	+	2	0	CRADD	92768087	0.993000	0.37304	0.997000	0.53966	0.967000	0.64934	2.179000	0.42528	2.724000	0.93272	0.563000	0.77884	CGC		0.637	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805		24	41	0	0	0	1	0	24	41					A	94243956	G	A	94243956	3	1	48	1	0	0	0	0	1	0	0	0	3847	1087	38	1	515	1	CRADD	12	94243956	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	275344	94243956	39607939	3048	7516										
PLXNC1	10154	broad.mit.edu	37	chr12	94543462	94543462	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcacttcgtggacgcctttCtctggaacggcagcatctac	10	13	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94543462C>T	ENST00000258526.4	+	1	964	c.715C>T	c.(715-717)Ctc>Ttc	p.L239F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	239	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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						GGACGCCTTTCTCTGGAACGG	0.687																																						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.(715-717)Ctc>Ttc		plexin C1							36	41	39					12																	94543462		2171	4281	6452	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94543462C>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.715C>T	12.37:g.94543462C>T	ENSP00000258526:p.Leu239Phe		Somatic					p.L239F	NM_005761.2	NP_005752.1	WXS	Illumina GAIIx	Phase_I	O60486	PLXC1_HUMAN			1	964	+			239			Sema.		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.715C>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306301	0.40795	.	.	ENSG00000136040	ENST00000258526	T	0.04406	3.63	5.04	4.13	0.48395	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	1.212410	0.05832	N	0.617778	T	0.07638	0.0192	M	0.66939	2.045	0.80722	D	1	P	0.43701	0.815	B	0.32022	0.139	T	0.30001	-0.9993	10	0.66056	D	0.02	.	9.9518	0.41642	0.1384:0.7872:0.0:0.0743	.	239	O60486	PLXC1_HUMAN	F	239	ENSP00000258526:L239F	ENSP00000258526:L239F	L	+	1	0	PLXNC1	93067593	0.936000	0.31750	0.999000	0.59377	0.990000	0.78478	2.054000	0.41335	1.088000	0.41272	0.561000	0.74099	CTC		0.687	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			9	11	0	0	0	1	0	9	11					T	94543462	C	T	94543462	3	4	48	1	0	0	0	0	1	0	0	0	12135	913	32	3	717	3	PLXNC1	12	94543462	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	299506	94543462	39308433	3049	7517										
PLXNC1	10154	broad.mit.edu	37	chr12	94575310	94575310	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttttctacaaactcgttcCtgatcctgtgaagaatatct	6	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94575310C>A	ENST00000258526.4	+	3	1541	c.1292C>A	c.(1291-1293)cCt>cAt	p.P431H	RP11-74K11.2_ENST00000550759.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	431	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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						AAACTCGTTCCTGATCCTGTG	0.308																																						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.(1291-1293)cCt>cAt		plexin C1							97	107	104					12																	94575310		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94575310C>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.1292C>A	12.37:g.94575310C>A	ENSP00000258526:p.Pro431His		Somatic				RP11-74K11.2_ENST00000550759.1_RNA	p.P431H	NM_005761.2	NP_005752.1	WXS	Illumina GAIIx	Phase_I	O60486	PLXC1_HUMAN			3	1541	+			431			Sema.		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.1292C>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628278	0.46944	.	.	ENSG00000136040	ENST00000258526;ENST00000551850	T;T	0.04454	3.62;3.62	6.08	5.19	0.71726	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.322169	0.36555	N	0.002524	T	0.10423	0.0255	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	P	0.54140	0.743	T	0.00127	-1.2019	10	0.66056	D	0.02	.	8.4099	0.32638	0.0:0.8495:0.0:0.1505	.	431	O60486	PLXC1_HUMAN	H	431;47	ENSP00000258526:P431H;ENSP00000447843:P47H	ENSP00000258526:P431H	P	+	2	0	PLXNC1	93099441	1.000000	0.71417	0.947000	0.38551	0.329000	0.28539	2.683000	0.46943	2.894000	0.99253	0.591000	0.81541	CCT		0.308	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			27	56	1	0	1.50538e-07	1	1.73672e-07	27	56					A	94575310	C	A	94575310	3	1	48	1	0	0	0	0	1	0	0	0	12135	681	24	5	1302	5	PLXNC1	12	94575310	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	31848	94575310	39276585	3050	7518										
PLXNC1	10154	broad.mit.edu	37	chr12	94692488	94692488	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagctccatttgctataaaAtacttttttgactttttgga	6	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94692488A>C	ENST00000258526.4	+	27	4404	c.4155A>C	c.(4153-4155)aaA>aaC	p.K1385N	PLXNC1_ENST00000547057.1_Missense_Mutation_p.K432N|PLXNC1_ENST00000545312.1_Missense_Mutation_p.K124N	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1385					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						TTGCTATAAAATACTTTTTTG	0.378																																						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.(4153-4155)aaA>aaC		plexin C1							67	70	69					12																	94692488		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94692488A>C	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.4155A>C	12.37:g.94692488A>C	ENSP00000258526:p.Lys1385Asn		Somatic				PLXNC1_ENST00000547057.1_Missense_Mutation_p.K432N|PLXNC1_ENST00000545312.1_Missense_Mutation_p.K124N	p.K1385N	NM_005761.2	NP_005752.1	WXS	Illumina GAIIx	Phase_I	O60486	PLXC1_HUMAN			27	4404	+			1385					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.4155A>C	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379472	0.61845	.	.	ENSG00000136040	ENST00000258526;ENST00000547057;ENST00000545312	T;T;T	0.23754	1.89;1.89;1.89	5.95	2.36	0.29203	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.37865	-0.9687	10	0.87932	D	0	.	9.5341	0.39211	0.7161:0.0:0.2839:0.0	.	432;1385	B4DHQ7;O60486	.;PLXC1_HUMAN	N	1385;432;124	ENSP00000258526:K1385N;ENSP00000446720:K432N;ENSP00000439225:K124N	ENSP00000258526:K1385N	K	+	3	2	PLXNC1	93216619	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.777000	0.26718	0.166000	0.19597	0.533000	0.62120	AAA		0.378	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			8	27	0	0	0	1	0	8	27					C	94692488	A	C	94692488	3	2	48	1	0	0	0	0	1	0	0	0	12135	98	4	4	4261	4	PLXNC1	12	94692488	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	117178	94692488	39159407	3051	7519										
CCDC41	10154	broad.mit.edu	37	chr12	94703807	94703807	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggaaccaaaattagacttcGaaattcattatgtcttctct	5	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94703807G>A	ENST00000258526.4	+	0	7346				CCDC41_ENST00000339839.5_Nonsense_Mutation_p.R630*|CCDC41_ENST00000397809.5_Nonsense_Mutation_p.R630*	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1						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						ATTAGACTTCGAAATTCATTA	0.348																																						ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(1888-1890)Cga>Tga		coiled-coil domain containing 41							207	192	197					12																	94703807		1845	4098	5943	SO:0001628	intergenic_variant	51134							g.chr12:94703807G>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		12.37:g.94703807G>A			Somatic				CCDC41_ENST00000339839.5_Nonsense_Mutation_p.R630*	p.R630*	NM_016122.2	NP_057206.2	WXS	Illumina GAIIx	Phase_I	Q9Y592	CCD41_HUMAN			16	2437	-			622					Q59H25	Nonsense_Mutation	SNP	ENST00000258526.4	37	c.1888C>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	41	9.046201	0.99048	.	.	ENSG00000173588	ENST00000552632;ENST00000339839;ENST00000397809	.	.	.	5.94	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6944	16.2834	0.82708	0.0:0.0:0.8664:0.1336	.	.	.	.	X	94;630;630	.	ENSP00000344655:R630X	R	-	1	2	CCDC41	93227938	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	4.991000	0.63883	1.504000	0.48704	0.557000	0.71058	CGA		0.348	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			6	56	0	0	0	1	0	6	56					A	94703807	G	A	94703807	1	1	48	0	1	0	0	0	0	0	0	0	2815	1066	37	1		1	CCDC41	12	94703807	IGR	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	11319	94703807	39148088	3052	7520										
NR2C1	7181	broad.mit.edu	37	chr12	95461145	95461145	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aataatttgatgtgcaatttCttctatggttgccatgatct	7	6	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:95461145C>A	ENST00000333003.5	-	2	346	c.16G>T	c.(16-18)Gaa>Taa	p.E6*	NR2C1_ENST00000330677.7_Nonsense_Mutation_p.E6*|NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Nonsense_Mutation_p.E6*	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	6	Required for interaction with KAT2B. {ECO:0000250}.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGTGCAATTTCTTCTATGGTT	0.313																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(16-18)Gaa>Taa		nuclear receptor subfamily 2, group C, member 1							126	113	117					12																	95461145		2203	4300	6503	SO:0001587	stop_gained	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95461145C>A	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.16G>T	12.37:g.95461145C>A	ENSP00000333275:p.Glu6*		Somatic				NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Nonsense_Mutation_p.E6*|NR2C1_ENST00000330677.7_Nonsense_Mutation_p.E6*	p.E6*	NM_003297.3	NP_003288.2	WXS	Illumina GAIIx	Phase_I	P13056	NR2C1_HUMAN			2	346	-			6			Required for interaction with KAT2B (By similarity).		A8K5K4|Q15625|Q15626	Nonsense_Mutation	SNP	ENST00000333003.5	37	c.16G>T	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	C	39	7.453865	0.98292	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677;ENST00000547469	.	.	.	5.16	5.16	0.70880	.	0.158697	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.8299	0.92133	0.0:1.0:0.0:0.0	.	.	.	.	X	6	.	ENSP00000328843:E6X	E	-	1	0	NR2C1	93985276	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.958000	0.63660	2.698000	0.92095	0.561000	0.74099	GAA		0.313	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		14	25	1	0	0.000151284	1	0.00016287	14	25					A	95461145	C	A	95461145	4	1	48	1	0	0	0	0	0	1	0	0	10631	922	32	2	1925	2	NR2C1	12	95461145	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	757338	95461145	38390750	3053	7521										
FGD6	55785	broad.mit.edu	37	chr12	95483391	95483391	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgtttcctccctgatggaAtgctatgtaagactgatgat	9	8	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:95483391A>G	ENST00000343958.4	-	18	4155	c.3932T>C	c.(3931-3933)aTt>aCt	p.I1311T	FGD6_ENST00000546711.1_Missense_Mutation_p.I1311T	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1311					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)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CCCTGATGGAATGCTATGTAA	0.403																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3931-3933)aTt>aCt		FYVE, RhoGEF and PH domain containing 6							216	199	205					12																	95483391		2203	4300	6503	SO:0001583	missense	55785				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.chr12:95483391A>G	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.3932T>C	12.37:g.95483391A>G	ENSP00000344446:p.Ile1311Thr		Somatic				FGD6_ENST00000546711.1_Missense_Mutation_p.I1311T	p.I1311T	NM_018351.3	NP_060821.3	WXS	Illumina GAIIx	Phase_I	Q6ZV73	FGD6_HUMAN			18	4155	-			1311					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.3932T>C	CCDS31878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.87|17.87	3.494578|3.494578	0.64186|0.64186	.|.	.|.	ENSG00000180263|ENSG00000180263	ENST00000548069|ENST00000343958;ENST00000546711	.|T;T	.|0.70045	.|2.69;-0.45	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.000000	.|0.49916	.|D	.|0.000136	T|T	0.78278|0.78278	0.4258|0.4258	L|L	0.61218|0.61218	1.895|1.895	0.44946|0.44946	D|D	0.997968|0.997968	.|D;D	.|0.71674	.|0.995;0.998	.|D;P	.|0.63488	.|0.915;0.897	T|T	0.79019|0.79019	-0.1974|-0.1974	5|10	.|0.49607	.|T	.|0.09	-17.8893|-17.8893	15.9002|15.9002	0.79369|0.79369	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1311;1311	.|Q6ZV73-2;Q6ZV73	.|.;FGD6_HUMAN	L|T	55|1311	.|ENSP00000344446:I1311T;ENSP00000450342:I1311T	.|ENSP00000344446:I1311T	F|I	-|-	1|2	0|0	FGD6|FGD6	94007522|94007522	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	5.454000|5.454000	0.66651|0.66651	2.164000|2.164000	0.68074|0.68074	0.459000|0.459000	0.35465|0.35465	TTC|ATT		0.403	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		28	50	0	0	0	1	0	28	50					G	95483391	A	G	95483391	3	3	48	1	0	0	0	0	1	0	0	0	5845	101	4	4	376	4	FGD6	12	95483391	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	22246	95483391	38368504	3054	7522										
FGD6	55785	broad.mit.edu	37	chr12	95531303	95531303	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatagtagcaaatacctcaaAttctctaacaacagcagcaa	5	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:95531303A>G	ENST00000343958.4	-	7	3212	c.2989T>C	c.(2989-2991)Ttt>Ctt	p.F997L	FGD6_ENST00000546711.1_Missense_Mutation_p.F997L|FGD6_ENST00000549499.1_Missense_Mutation_p.F997L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	997	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AATACCTCAAATTCTCTAACA	0.328																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2989-2991)Ttt>Ctt		FYVE, RhoGEF and PH domain containing 6							115	109	111					12																	95531303		2203	4300	6503	SO:0001583	missense	55785				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.chr12:95531303A>G	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2989T>C	12.37:g.95531303A>G	ENSP00000344446:p.Phe997Leu		Somatic				FGD6_ENST00000549499.1_Missense_Mutation_p.F997L|FGD6_ENST00000546711.1_Missense_Mutation_p.F997L	p.F997L	NM_018351.3	NP_060821.3	WXS	Illumina GAIIx	Phase_I	Q6ZV73	FGD6_HUMAN			7	3212	-			997			DH.		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2989T>C	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383337	0.82792	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.27256	1.68;1.68;1.68	4.98	4.98	0.66077	Dbl homology (DH) domain (5);	0.000000	0.48286	D	0.000191	T	0.42449	0.1203	L	0.41710	1.295	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.30534	-0.9975	10	0.56958	D	0.05	-19.9555	14.9642	0.71179	1.0:0.0:0.0:0.0	.	997;997	Q6ZV73-2;Q6ZV73	.;FGD6_HUMAN	L	997	ENSP00000344446:F997L;ENSP00000450342:F997L;ENSP00000449005:F997L	ENSP00000344446:F997L	F	-	1	0	FGD6	94055434	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	8.787000	0.91830	2.004000	0.58718	0.459000	0.35465	TTT		0.328	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		26	35	0	0	0	1	0	26	35					G	95531303	A	G	95531303	3	3	48	1	0	0	0	0	1	0	0	0	5845	101	4	4	1363	4	FGD6	12	95531303	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	47912	95531303	38320592	3055	7523										
METAP2	10988	broad.mit.edu	37	chr12	95868101	95868101	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagaagagcaaagggccttCtgcaggtaaagagagtttta	13	5	1	3	rs199968706		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:95868101C>A	ENST00000323666.5	+	1	375	c.146C>A	c.(145-147)tCt>tAt	p.S49Y	METAP2_ENST00000551840.1_Missense_Mutation_p.S49Y|METAP2_ENST00000550777.1_Missense_Mutation_p.S49Y|METAP2_ENST00000546753.1_Missense_Mutation_p.S49Y|METAP2_ENST00000261220.9_Missense_Mutation_p.S49Y	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						AAAGGGCCTTCTGCAGGTAAA	0.577																																						ENST00000323666.5																			0				endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						c.(145-147)tCt>tAt		methionyl aminopeptidase 2	L-Methionine(DB00134)						69	83	78					12																	95868101		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.chr12:95868101C>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.146C>A	12.37:g.95868101C>A	ENSP00000325312:p.Ser49Tyr		Somatic				METAP2_ENST00000261220.9_Missense_Mutation_p.S49Y|METAP2_ENST00000546753.1_Missense_Mutation_p.S49Y|METAP2_ENST00000551840.1_Missense_Mutation_p.S49Y|METAP2_ENST00000550777.1_Missense_Mutation_p.S49Y	p.S49Y	NM_006838.3	NP_006829.1	WXS	Illumina GAIIx	Phase_I	P50579	AMPM2_HUMAN			1	375	+			49						Missense_Mutation	SNP	ENST00000323666.5	37	c.146C>A	CCDS9052.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731901	0.30684	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000549502;ENST00000553151;ENST00000550777;ENST00000551840	.	.	.	5.05	-0.296	0.12824	.	1.198310	0.05906	N	0.630787	T	0.20007	0.0481	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.25955	0.085;0.138;0.071;0.115;0.042	B;B;B;B;B	0.24701	0.039;0.03;0.055;0.046;0.025	T	0.30794	-0.9966	9	0.72032	D	0.01	-1.6111	6.6715	0.23070	0.0:0.4096:0.4358:0.1546	.	49;49;49;49;49	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	Y	49	.	ENSP00000261220:S49Y	S	+	2	0	METAP2	94392232	0.004000	0.15560	0.163000	0.22734	0.755000	0.42902	-0.147000	0.10234	-0.274000	0.09232	-0.264000	0.10439	TCT		0.577	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838		31	61	1	0	2.85442e-18	1	3.86477e-18	31	61					A	95868101	C	A	95868101	3	1	48	1	0	0	0	0	1	0	0	0	9496	913	32	2	148	2	METAP2	12	95868101	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	336798	95868101	37983794	3056	7524										
NTN4	59277	broad.mit.edu	37	chr12	96052892	96052892	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctctttttaaaatatccatGacttttcttccaagagaagg	5	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:96052892G>T	ENST00000343702.4	-	10	2305	c.1857C>A	c.(1855-1857)gtC>gtA	p.V619V	PGAM1P5_ENST00000552554.1_RNA|NTN4_ENST00000344911.4_Silent_p.V582V|NTN4_ENST00000538383.1_Silent_p.V582V|NTN4_ENST00000553059.1_Silent_p.V596V	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	619	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AAATATCCATGACTTTTCTTC	0.368																																						ENST00000343702.4																			0				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1855-1857)gtC>gtA		netrin 4							142	135	138					12																	96052892		2203	4300	6503	SO:0001819	synonymous_variant	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96052892G>T	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1857C>A	12.37:g.96052892G>T			Somatic				PGAM1P5_ENST00000552554.1_RNA|NTN4_ENST00000344911.4_Silent_p.V582V|NTN4_ENST00000538383.1_Silent_p.V582V|NTN4_ENST00000553059.1_Silent_p.V596V	p.V619V	NM_021229.3	NP_067052.2	WXS	Illumina GAIIx	Phase_I	Q9HB63	NET4_HUMAN			10	2305	-			619			NTR.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Silent	SNP	ENST00000343702.4	37	c.1857C>A	CCDS9054.1																																																																																				0.368	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229		16	39	1	0	6.31663e-08	1	7.35827e-08	16	39					T	96052892	G	T	96052892	2	4	48	1	0	0	0	0	0	0	0	1	10711	1277	45	2		2	NTN4	12	96052892	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	184791	96052892	37799003	3057	7525										
TMPO	7112	broad.mit.edu	37	chr12	98941517	98941517	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctccattcccgtatggataAaaattttgctgtttgttgtt	8	7	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:98941517A>C	ENST00000556029.1	+	9	1602	c.1246A>C	c.(1246-1248)Aaa>Caa	p.K416Q	TMPO_ENST00000393053.2_Missense_Mutation_p.K307Q|TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000343315.5_Missense_Mutation_p.K376Q	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	416						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGTATGGATAAAAATTTTGCT	0.368																																						ENST00000556029.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1246-1248)Aaa>Caa		thymopoietin							127	129	128					12																	98941517		2203	4300	6503	SO:0001583	missense	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98941517A>C		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.1246A>C	12.37:g.98941517A>C	ENSP00000450627:p.Lys416Gln		Somatic				TMPO_ENST00000393053.2_Missense_Mutation_p.K307Q|TMPO_ENST00000343315.5_Missense_Mutation_p.K376Q|TMPO_ENST00000548223.1_3'UTR	p.K416Q	NM_001032283.2	NP_001027454.1	WXS	Illumina GAIIx	Phase_I	P42167	LAP2B_HUMAN			9	1602	+			416					A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	c.1246A>C	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	A	11.13	1.547798	0.27652	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000393053	T;T;T	0.64618	0.34;0.33;-0.11	5.59	5.59	0.84812	.	.	.	.	.	T	0.70439	0.3224	L	0.37750	1.13	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.991;0.994	T	0.67461	-0.5665	9	0.29301	T	0.29	.	16.0668	0.80887	1.0:0.0:0.0:0.0	.	340;416	Q59G12;P42167	.;LAP2B_HUMAN	Q	416;376;307	ENSP00000450627:K416Q;ENSP00000340251:K376Q;ENSP00000376773:K307Q	ENSP00000340251:K416Q	K	+	1	0	TMPO	97465648	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.936000	0.63506	2.246000	0.74042	0.533000	0.62120	AAA		0.368	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		29	47	0	0	0	1	0	29	47					C	98941517	A	C	98941517	3	2	48	1	0	0	0	0	1	0	0	0	16252	15	1	4	2804	4	TMPO	12	98941517	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2888625	98941517	34910378	3058	7526										
ANKS1B	56899	broad.mit.edu	37	chr12	100169404	100169404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcttcctgtacaggctcttCgaggactgtagatcttccca	8	12	3	1	rs377245260		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100169404C>T	ENST00000547776.2	-	7	882	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.E295K	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	295						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)		ACAGGCTCTTCGAGGACTGTA	0.348																																						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.(883-885)Gaa>Aaa		ankyrin repeat and sterile alpha motif domain containing 1B		C	LYS/GLU	0,3722		0,0,1861	134	120	124		883	5.9	1	12		124	1,8207		0,1,4103	no	missense	ANKS1B	NM_152788.4	56	0,1,5964	TT,TC,CC		0.0122,0.0,0.0084	benign	295/1249	100169404	1,11929	1861	4104	5965	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100169404C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.883G>A	12.37:g.100169404C>T	ENSP00000449629:p.Glu295Lys		Somatic				ANKS1B_ENST00000329257.7_Missense_Mutation_p.E295K|ANKS1B_ENST00000547010.1_Intron	p.E295K	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)	7	882	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	295					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.883G>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.925091	0.34002	0.0	1.22E-4	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.49432	0.96;0.96;0.78	5.86	5.86	0.93980	.	0.124879	0.52532	D	0.000075	T	0.44973	0.1319	L	0.44542	1.39	0.80722	D	1	D;B	0.58268	0.982;0.274	B;B	0.43867	0.434;0.053	T	0.30794	-0.9966	9	.	.	.	-14.5792	17.0929	0.86627	0.0:1.0:0.0:0.0	.	261;295	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	K	295;295;261	ENSP00000449629:E295K;ENSP00000331381:E295K;ENSP00000449894:E261K	.	E	-	1	0	ANKS1B	98693535	0.995000	0.38212	0.956000	0.39512	0.073000	0.16967	3.957000	0.56730	2.775000	0.95449	0.650000	0.86243	GAA		0.348	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		12	11	0	0	0	1	0	12	11					T	100169404	C	T	100169404	3	4	48	1	0	0	0	0	1	0	0	0	689	893	31	1	3231	1	ANKS1B	12	100169404	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1227887	100169404	33682491	3059	7527										
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100441926	100441926	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcccactttcaaatctcagaGaaatctcaggagaggatttg	9	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100441926G>T	ENST00000279907.7	-	18	3979	c.3767C>A	c.(3766-3768)tCt>tAt	p.S1256Y	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S906Y	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1256										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						AAATCTCAGAGAAATCTCAGG	0.358																																						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.(3766-3768)tCt>tAt		UHRF1 binding protein 1-like							56	57	57					12																	100441926		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100441926G>T		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3767C>A	12.37:g.100441926G>T	ENSP00000279907:p.Ser1256Tyr		Somatic				UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S906Y	p.S1256Y	NM_015054.1	NP_055869.1	WXS	Illumina GAIIx	Phase_I	A0JNW5	UH1BL_HUMAN			18	3979	-			1256					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.3767C>A	CCDS31882.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.75|16.75	3.209919|3.209919	0.58343|0.58343	.|.	.|.	ENSG00000111647|ENSG00000111647	ENST00000548712|ENST00000279907;ENST00000545232	.|T;T	.|0.10477	.|2.87;2.87	5.88|5.88	5.0|5.0	0.66597|0.66597	.|.	.|0.331511	.|0.34245	.|N	.|0.004131	T|T	0.10078|0.10078	0.0247|0.0247	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|P	.|0.35821	.|0.523	.|B	.|0.33521	.|0.165	T|T	0.08700|0.08700	-1.0709|-1.0709	5|10	.|0.62326	.|D	.|0.03	-6.1657|-6.1657	5.6705|5.6705	0.17719|0.17719	0.0743:0.2254:0.5794:0.1208|0.0743:0.2254:0.5794:0.1208	.|.	.|1256	.|A0JNW5	.|UH1BL_HUMAN	I|Y	17|1256;906	.|ENSP00000279907:S1256Y;ENSP00000444824:S906Y	.|ENSP00000279907:S1256Y	L|S	-|-	1|2	0|0	UHRF1BP1L|UHRF1BP1L	98966057|98966057	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.821000|1.821000	0.39041|0.39041	1.510000|1.510000	0.48803|0.48803	0.580000|0.580000	0.79431|0.79431	CTC|TCT		0.358	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		14	39	1	0	6.49762e-13	1	8.24929e-13	14	39					T	100441926	G	T	100441926	3	4	48	1	0	0	0	0	1	0	0	0	16984	942	33	2	643	2	UHRF1BP1L	12	100441926	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	272522	100441926	33409969	3060	7528										
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100453042	100453042	+	Missense_Mutation	SNP	A	A	C													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagtaatatttcctttataAatttcatgcattttggtatc							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100453042A>C	ENST00000279907.7	-	14	2225	c.2013T>G	c.(2011-2013)atT>atG	p.I671M	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.I321M	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	671										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						TTCCTTTATAAATTTCATGCA	0.338																																						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.(2011-2013)atT>atG		UHRF1 binding protein 1-like							63	73	69					12																	100453042		2203	4299	6502	SO:0001583	missense	23074							g.chr12:100453042A>C		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.2013T>G	12.37:g.100453042A>C	ENSP00000279907:p.Ile671Met		Somatic				UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.I321M	p.I671M	NM_015054.1	NP_055869.1	WXS	Illumina GAIIx	Phase_I	A0JNW5	UH1BL_HUMAN			14	2225	-			671					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.2013T>G	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	A	10.37	1.331872	0.24167	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.10763	2.86;2.84	5.78	3.36	0.38483	.	0.263282	0.39020	N	0.001494	T	0.09862	0.0242	L	0.40543	1.245	0.80722	D	1	B	0.31054	0.306	B	0.34590	0.186	T	0.13683	-1.0500	10	0.72032	D	0.01	-10.8283	5.8726	0.18812	0.7066:0.14:0.1534:0.0	.	671	A0JNW5	UH1BL_HUMAN	M	671;321	ENSP00000279907:I671M;ENSP00000444824:I321M	ENSP00000279907:I671M	I	-	3	3	UHRF1BP1L	98977173	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.286000	0.33273	0.427000	0.26145	0.528000	0.53228	ATT		0.338	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		25	39	0	0	0	1	0	25	39					C	100453042	A	C	100453042	3	2	48	1	0	0	0	0	1	0	0	0	16984	10	1	4	2413	4	UHRF1BP1L	12	100453042	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	11116	100453042	33398853	3061	7529	21	2								
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100453047	100453047	+	Nonsense_Mutation	SNP	C	C	A													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatatttcctttataaatttCatgcattttggtatcttgtt							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100453047C>A	ENST00000279907.7	-	14	2220	c.2008G>T	c.(2008-2010)Gaa>Taa	p.E670*	UHRF1BP1L_ENST00000545232.2_Nonsense_Mutation_p.E320*	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	670										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						TTATAAATTTCATGCATTTTG	0.338																																						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.(2008-2010)Gaa>Taa		UHRF1 binding protein 1-like							63	73	70					12																	100453047		2203	4299	6502	SO:0001587	stop_gained	23074							g.chr12:100453047C>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.2008G>T	12.37:g.100453047C>A	ENSP00000279907:p.Glu670*		Somatic				UHRF1BP1L_ENST00000545232.2_Nonsense_Mutation_p.E320*	p.E670*	NM_015054.1	NP_055869.1	WXS	Illumina GAIIx	Phase_I	A0JNW5	UH1BL_HUMAN			14	2220	-			670					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Nonsense_Mutation	SNP	ENST00000279907.7	37	c.2008G>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	38	6.792729	0.97841	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	.	.	.	5.78	5.78	0.91487	.	0.200017	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-11.6283	20.0118	0.97458	0.0:1.0:0.0:0.0	.	.	.	.	X	670;320	.	ENSP00000279907:E670X	E	-	1	0	UHRF1BP1L	98977178	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.679000	0.61649	2.742000	0.94016	0.650000	0.86243	GAA		0.338	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		25	44	1	0	1.1804e-14	1	1.54286e-14	25	44					A	100453047	C	A	100453047	4	1	48	1	0	0	0	0	0	1	0	0	16984	835	29	2	2418	2	UHRF1BP1L	12	100453047	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5	100453047	33398848	3062	7530	21	2								
SCYL2	55681	broad.mit.edu	37	chr12	100727960	100727960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagttcaattctttcatttCcgtcataaaagaaatgctta	4	9	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100727960C>T	ENST00000360820.2	+	14	2215	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	593					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						TCTTTCATTTCCGTCATAAAA	0.308																																						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.(1777-1779)tCc>tTc		SCY1-like 2 (S. cerevisiae)							89	91	91					12																	100727960		2203	4298	6501	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.chr12:100727960C>T	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1778C>T	12.37:g.100727960C>T	ENSP00000354061:p.Ser593Phe		Somatic					p.S593F	NM_017988.4	NP_060458.3	WXS	Illumina GAIIx	Phase_I	Q6P3W7	SCYL2_HUMAN			14	2215	+			593					A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.1778C>T	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660314	0.47572	.	.	ENSG00000136021	ENST00000549687;ENST00000360820	T;T	0.32272	1.79;1.46	5.39	5.39	0.77823	.	0.302706	0.35320	N	0.003299	T	0.36936	0.0985	L	0.61218	1.895	0.30710	N	0.749406	B	0.22800	0.075	B	0.28991	0.097	T	0.41627	-0.9498	10	0.62326	D	0.03	.	16.05	0.80749	0.0:0.8567:0.1433:0.0	.	593	Q6P3W7	SCYL2_HUMAN	F	593	ENSP00000448366:S593F;ENSP00000354061:S593F	ENSP00000354061:S593F	S	+	2	0	SCYL2	99252091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.288000	0.43514	2.666000	0.90696	0.585000	0.79938	TCC		0.308	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		21	34	0	0	0	1	0	21	34					T	100727960	C	T	100727960	3	4	48	1	0	0	0	0	1	0	0	0	13963	855	30	3	1828	3	SCYL2	12	100727960	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	274913	100727960	33123935	3063	7531										
NR1H4	9971	broad.mit.edu	37	chr12	100928670	100928670	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatgcttatttgttttaggcTtgttaactgaaattcagtgt	8	4	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100928670T>G	ENST00000551379.1	+	4	659	c.631T>G	c.(631-633)Ttg>Gtg	p.L211V	NR1H4_ENST00000188403.7_Missense_Mutation_p.L207V|NR1H4_ENST00000548884.1_Missense_Mutation_p.L197V|NR1H4_ENST00000549996.1_Missense_Mutation_p.L150V|NR1H4_ENST00000392986.3_Missense_Mutation_p.L201V			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	211					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TGTTTTAGGCTTGTTAACTGA	0.428																																						ENST00000548884.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						c.(589-591)Ttg>Gtg		nuclear receptor subfamily 1, group H, member 4							88	72	78					12																	100928670		2203	4300	6503	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100928670T>G	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"Nuclear hormone receptors"	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.631T>G	12.37:g.100928670T>G	ENSP00000447149:p.Leu211Val		Somatic				NR1H4_ENST00000188403.7_Missense_Mutation_p.L207V|NR1H4_ENST00000392986.3_Missense_Mutation_p.L201V|NR1H4_ENST00000551379.1_Missense_Mutation_p.L211V|NR1H4_ENST00000549996.1_Missense_Mutation_p.L150V	p.L197V	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	WXS	Illumina GAIIx	Phase_I	Q96RI1	NR1H4_HUMAN			6	1130	+			211					A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.589T>G	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.012821	0.54468	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.96491	-3.84;-3.05;-4.03;-3.04;-3.84	5.64	4.49	0.54785	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.96772	0.8946	M	0.74647	2.275	0.80722	D	1	D;D;D;D;B	0.89917	0.999;1.0;0.999;0.998;0.371	D;D;D;D;B	0.91635	0.998;0.999;0.998;0.994;0.138	D	0.95201	0.8317	10	0.02654	T	1	.	9.184	0.37158	0.0:0.1581:0.0:0.8419	.	150;211;207;201;197	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	V	197;201;150;211;207	ENSP00000448506:L197V;ENSP00000376712:L201V;ENSP00000448978:L150V;ENSP00000447149:L211V;ENSP00000188403:L207V	ENSP00000188403:L207V	L	+	1	2	NR1H4	99452801	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.205000	0.42770	0.965000	0.38133	0.533000	0.62120	TTG		0.428	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		18	41	0	0	0	1	0	18	41					G	100928670	T	G	100928670	3	3	48	1	0	0	0	0	1	0	0	0	10628	1606	56	4	603	4	NR1H4	12	100928670	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	200710	100928670	32923225	3064	7532										
NR1H4	9971	broad.mit.edu	37	chr12	100934521	100934521	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggttgaagctatgttccttCgttcagctgagattttcaat	9	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100934521C>T	ENST00000551379.1	+	7	1061	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C	NR1H4_ENST00000188403.7_Missense_Mutation_p.R341C|NR1H4_ENST00000548884.1_Missense_Mutation_p.R331C|NR1H4_ENST00000549996.1_Missense_Mutation_p.R284C|NR1H4_ENST00000392986.3_Missense_Mutation_p.R335C			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	345	Agonist binding. {ECO:0000250}.|Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TATGTTCCTTCGTTCAGCTGA	0.388																																						ENST00000548884.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						c.(991-993)Cgt>Tgt		nuclear receptor subfamily 1, group H, member 4							197	183	188					12																	100934521		2203	4300	6503	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100934521C>T	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"Nuclear hormone receptors"	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1033C>T	12.37:g.100934521C>T	ENSP00000447149:p.Arg345Cys		Somatic				NR1H4_ENST00000188403.7_Missense_Mutation_p.R341C|NR1H4_ENST00000392986.3_Missense_Mutation_p.R335C|NR1H4_ENST00000551379.1_Missense_Mutation_p.R345C|NR1H4_ENST00000549996.1_Missense_Mutation_p.R284C	p.R331C	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	WXS	Illumina GAIIx	Phase_I	Q96RI1	NR1H4_HUMAN			9	1532	+			345			Ligand-binding.		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.991C>T	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213805	0.58452	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1	4.91	4.02	0.46733	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.049533	0.85682	N	0.000000	D	0.97835	0.9289	M	0.80847	2.515	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.938;1.0;1.0;0.996	D;B;D;D;P	0.91635	0.999;0.437;0.999;0.999;0.79	D	0.98183	1.0458	10	0.72032	D	0.01	.	13.475	0.61303	0.0:0.924:0.0:0.076	.	284;345;341;335;331	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	C	331;335;284;345;341	ENSP00000448506:R331C;ENSP00000376712:R335C;ENSP00000448978:R284C;ENSP00000447149:R345C;ENSP00000188403:R341C	ENSP00000188403:R341C	R	+	1	0	NR1H4	99458652	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.758000	0.68776	1.061000	0.40601	-0.203000	0.12734	CGT		0.388	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		36	49	0	0	0	1	0	36	49					T	100934521	C	T	100934521	3	4	48	1	0	0	0	0	1	0	0	0	10628	884	31	1	1017	1	NR1H4	12	100934521	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5851	100934521	32917374	3065	7533										
ANO4	121601	broad.mit.edu	37	chr12	101413875	101413875	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaagtagaatcgtgcatcaCattttacaaagaataaaata	6	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101413875C>A	ENST00000392977.3	+	9	1008	c.798C>A	c.(796-798)caC>caA	p.H266Q	ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000392979.3_Missense_Mutation_p.H231Q|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	266					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						TCGTGCATCACATTTTACAAA	0.299										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.(691-693)caC>caA		anoctamin 4							72	73	73					12																	101413875		2203	4299	6502	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101413875C>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.798C>A	12.37:g.101413875C>A	ENSP00000376703:p.His266Gln	HNSCC(74;0.22)	Somatic				ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.H266Q|ANO4_ENST00000538618.1_3'UTR	p.H231Q	NM_178826.3	NP_849148.2	WXS	Illumina GAIIx	Phase_I	Q32M45	ANO4_HUMAN			8	1054	+			266					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.693C>A		.	.	.	.	.	.	.	.	.	.	C	17.76	3.468929	0.63625	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.66099	-0.19;-0.19	5.69	-1.72	0.08107	.	0.000000	0.85682	D	0.000000	T	0.60418	0.2267	L	0.31752	0.955	0.80722	D	1	D;D	0.76494	0.995;0.999	P;D	0.83275	0.841;0.996	T	0.56643	-0.7945	10	0.13470	T	0.59	.	10.7996	0.46480	0.0:0.4201:0.0:0.5799	.	266;231	Q32M45;Q32M45-2	ANO4_HUMAN;.	Q	231;266	ENSP00000376705:H231Q;ENSP00000376703:H266Q	ENSP00000376703:H266Q	H	+	3	2	ANO4	99938006	0.970000	0.33590	0.996000	0.52242	0.983000	0.72400	0.035000	0.13797	-0.238000	0.09724	-0.225000	0.12378	CAC		0.299	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		13	24	1	0	2.32078e-09	1	2.7896e-09	13	24					A	101413875	C	A	101413875	3	1	48	1	0	0	0	0	1	0	0	0	699	477	17	5	719	5	ANO4	12	101413875	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	479354	101413875	32438020	3066	7534										
UTP20	27340	broad.mit.edu	37	chr12	101679554	101679554	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttacaaagaagttattgacaAatgccaatcattcaatcagt	5	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101679554A>C	ENST00000261637.4	+	4	395	c.221A>C	c.(220-222)aAa>aCa	p.K74T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	74					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						GTTATTGACAAATGCCAATCA	0.358																																						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.(220-222)aAa>aCa		UTP20, small subunit (SSU) processome component, homolog (yeast)							89	90	90					12																	101679554		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.chr12:101679554A>C	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.221A>C	12.37:g.101679554A>C	ENSP00000261637:p.Lys74Thr		Somatic					p.K74T	NM_014503.2	NP_055318.2	WXS	Illumina GAIIx	Phase_I	O75691	UTP20_HUMAN			4	395	+			74					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.221A>C	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.897064	0.52121	.	.	ENSG00000120800	ENST00000261637	T	0.42513	0.97	5.56	5.56	0.83823	.	0.176119	0.48286	D	0.000188	T	0.56601	0.1996	L	0.58669	1.825	0.47547	D	0.999458	D	0.71674	0.998	P	0.61800	0.894	T	0.52290	-0.8595	10	0.26408	T	0.33	-23.4668	15.7176	0.77681	1.0:0.0:0.0:0.0	.	74	O75691	UTP20_HUMAN	T	74	ENSP00000261637:K74T	ENSP00000261637:K74T	K	+	2	0	UTP20	100203685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.781000	0.68964	2.104000	0.64026	0.528000	0.53228	AAA		0.358	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		19	46	0	0	0	1	0	19	46					C	101679554	A	C	101679554	3	2	48	1	0	0	0	0	1	0	0	0	17114	14	1	4	235	4	UTP20	12	101679554	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	265679	101679554	32172341	3067	7535										
UTP20	27340	broad.mit.edu	37	chr12	101693498	101693498	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagactagatccaagggaaGaaacgaacagtttccagtat	10	7	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101693498G>T	ENST00000261637.4	+	13	1643	c.1469G>T	c.(1468-1470)aGa>aTa	p.R490I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	490					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						TCCAAGGGAAGAAACGAACAG	0.358																																						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.(1468-1470)aGa>aTa		UTP20, small subunit (SSU) processome component, homolog (yeast)							58	60	59					12																	101693498		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.chr12:101693498G>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.1469G>T	12.37:g.101693498G>T	ENSP00000261637:p.Arg490Ile		Somatic					p.R490I	NM_014503.2	NP_055318.2	WXS	Illumina GAIIx	Phase_I	O75691	UTP20_HUMAN			13	1643	+			490					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.1469G>T	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	5.064	0.197510	0.09652	.	.	ENSG00000120800	ENST00000261637	T	0.64618	-0.11	5.75	2.66	0.31614	Armadillo-type fold (1);	0.644899	0.16108	N	0.229247	T	0.43122	0.1233	N	0.19112	0.55	0.09310	N	0.999992	B	0.22346	0.068	B	0.19391	0.025	T	0.26883	-1.0090	10	0.39692	T	0.17	-0.9215	7.2642	0.26219	0.5718:0.0:0.4282:0.0	.	490	O75691	UTP20_HUMAN	I	490	ENSP00000261637:R490I	ENSP00000261637:R490I	R	+	2	0	UTP20	100217629	0.302000	0.24454	0.002000	0.10522	0.052000	0.14988	0.584000	0.23864	0.284000	0.22305	0.650000	0.86243	AGA		0.358	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		12	40	1	0	1.08611e-07	1	1.25818e-07	12	40					T	101693498	G	T	101693498	3	4	48	1	0	0	0	0	1	0	0	0	17114	942	33	2	1519	2	UTP20	12	101693498	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	13944	101693498	32158397	3068	7536										
UTP20	27340	broad.mit.edu	37	chr12	101759345	101759345	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaatgacagctgaatccattCtattactcagttatggtttg	7	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101759345C>A	ENST00000261637.4	+	46	6241	c.6067C>A	c.(6067-6069)Cta>Ata	p.L2023I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2023					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						TGAATCCATTCTATTACTCAG	0.373																																						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.(6067-6069)Cta>Ata		UTP20, small subunit (SSU) processome component, homolog (yeast)							70	70	70					12																	101759345		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.chr12:101759345C>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6067C>A	12.37:g.101759345C>A	ENSP00000261637:p.Leu2023Ile		Somatic					p.L2023I	NM_014503.2	NP_055318.2	WXS	Illumina GAIIx	Phase_I	O75691	UTP20_HUMAN			46	6241	+			2023					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.6067C>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214641	0.79352	.	.	ENSG00000120800	ENST00000261637	T	0.33865	1.39	5.92	5.03	0.67393	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65048	0.2654	M	0.87971	2.92	0.52099	D	0.999949	D	0.89917	1.0	D	0.91635	0.999	T	0.71248	-0.4649	10	0.54805	T	0.06	-10.811	14.8667	0.70422	0.0:0.9315:0.0:0.0685	.	2023	O75691	UTP20_HUMAN	I	2023	ENSP00000261637:L2023I	ENSP00000261637:L2023I	L	+	1	2	UTP20	100283476	0.989000	0.36119	0.885000	0.34714	0.936000	0.57629	2.564000	0.45931	1.513000	0.48852	0.655000	0.94253	CTA		0.373	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		3	12	1	0	0.004672	1	0.00483628	3	12					A	101759345	C	A	101759345	3	1	48	1	0	0	0	0	1	0	0	0	17114	912	32	2	6249	2	UTP20	12	101759345	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	65847	101759345	32092550	3069	7537										
SPIC	121599	broad.mit.edu	37	chr12	101873373	101873373	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaattagattacagaaattaCctggctttaatcaaccatcg	5	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101873373C>A	ENST00000551346.1	+	4	270	c.111C>A	c.(109-111)taC>taA	p.Y37*	SPIC_ENST00000299272.5_Nonsense_Mutation_p.Y37*			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	37					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)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ACAGAAATTACCTGGCTTTAA	0.338																																						ENST00000551346.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						c.(109-111)taC>taA		Spi-C transcription factor (Spi-1/PU.1 related)							65	65	65					12																	101873373		2203	4300	6503	SO:0001587	stop_gained	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101873373C>A	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.111C>A	12.37:g.101873373C>A	ENSP00000448580:p.Tyr37*		Somatic				SPIC_ENST00000299272.5_Nonsense_Mutation_p.Y37*	p.Y37*			WXS	Illumina GAIIx	Phase_I	Q8N5J4	SPIC_HUMAN			4	270	+			37						Nonsense_Mutation	SNP	ENST00000551346.1	37	c.111C>A	CCDS9082.1	.	.	.	.	.	.	.	.	.	.	C	36	5.610125	0.96637	.	.	ENSG00000166211	ENST00000551346;ENST00000299272	.	.	.	5.0	4.11	0.48088	.	0.133773	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3837	9.0789	0.36538	0.0:0.8317:0.0:0.1683	.	.	.	.	X	37	.	ENSP00000299272:Y37X	Y	+	3	2	SPIC	100397504	0.997000	0.39634	1.000000	0.80357	0.851000	0.48451	0.966000	0.29331	1.108000	0.41662	0.555000	0.69702	TAC		0.338	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323		16	26	1	0	1.67942e-08	1	1.98515e-08	16	26					A	101873373	C	A	101873373	4	1	48	1	0	0	0	0	0	1	0	0	15066	518	18	5	115	5	SPIC	12	101873373	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	114028	101873373	31978522	3070	7538										
MYBPC1	4604	broad.mit.edu	37	chr12	102038555	102038555	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatggtataaaaatggtcaaGaaattcgacccagtaccaag	8	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:102038555G>T	ENST00000550270.1	+	10	871	c.871G>T	c.(871-873)Gaa>Taa	p.E291*	MYBPC1_ENST00000361466.2_Nonsense_Mutation_p.E316*|MYBPC1_ENST00000549145.1_Nonsense_Mutation_p.E304*|MYBPC1_ENST00000360610.2_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000361685.2_Nonsense_Mutation_p.E316*|MYBPC1_ENST00000547405.1_Nonsense_Mutation_p.E265*|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000541119.1_Nonsense_Mutation_p.E279*|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000452455.2_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000441232.1_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000551300.1_Nonsense_Mutation_p.E192*|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000545503.2_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000536007.1_Nonsense_Mutation_p.E272*|MYBPC1_ENST00000547509.1_Nonsense_Mutation_p.E277*|MYBPC1_ENST00000553190.1_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000392934.3_Nonsense_Mutation_p.E278*			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	291	Ig-like C2-type 2.				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						AAATGGTCAAGAAATTCGACC	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.(910-912)Gaa>Taa		myosin binding protein C, slow type							83	77	79					12																	102038555		2203	4300	6503	SO:0001587	stop_gained	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102038555G>T		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.871G>T	12.37:g.102038555G>T	ENSP00000449702:p.Glu291*		Somatic				MYBPC1_ENST00000547405.1_Nonsense_Mutation_p.E265*|MYBPC1_ENST00000551300.1_Nonsense_Mutation_p.E192*|MYBPC1_ENST00000452455.2_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000360610.2_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000392934.3_Nonsense_Mutation_p.E278*|MYBPC1_ENST00000441232.1_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000361466.2_Nonsense_Mutation_p.E316*|MYBPC1_ENST00000536007.1_Nonsense_Mutation_p.E272*|MYBPC1_ENST00000541119.1_Nonsense_Mutation_p.E279*|MYBPC1_ENST00000547509.1_Nonsense_Mutation_p.E277*|MYBPC1_ENST00000545503.2_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000553190.1_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000361685.2_Nonsense_Mutation_p.E316*	p.E304*			WXS	Illumina GAIIx	Phase_I	Q00872	MYPC1_HUMAN			11	1010	+			291	HKGCQRILFIN -> DTRCQSILNID (in Ref. 1; CAA46987).		Ig-like C2-type 2.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Nonsense_Mutation	SNP	ENST00000550270.1	37	c.910G>T	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	38	7.124115	0.98081	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	.	.	.	5.8	5.8	0.92144	.	0.000000	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6671	0.95896	0.0:0.0:1.0:0.0	.	.	.	.	X	265;291;291;291;278;277;316;304;291;316;291;272;279;316;192;291	.	ENSP00000353822:E291X	E	+	1	0	MYBPC1	100562686	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.741000	0.93983	0.655000	0.94253	GAA		0.398	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			8	13	1	0	0.00448238	1	0.00465112	8	13					T	102038555	G	T	102038555	4	4	48	1	0	0	0	0	0	1	0	0	10020	943	33	2	992	2	MYBPC1	12	102038555	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	165182	102038555	31813340	3071	7539										
MYBPC1	4604	broad.mit.edu	37	chr12	102067366	102067366	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caagtcaaagtggacaaattCgtggagaccgcatcaattga	10	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:102067366C>T	ENST00000550270.1	+	24	2754	c.2754C>T	c.(2752-2754)ttC>ttT	p.F918F	MYBPC1_ENST00000361466.2_Silent_p.F925F|MYBPC1_ENST00000549145.1_Silent_p.F931F|MYBPC1_ENST00000360610.2_Silent_p.F918F|MYBPC1_ENST00000361685.2_Silent_p.F925F|MYBPC1_ENST00000547405.1_Silent_p.F874F|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000541119.1_Silent_p.F888F|MYBPC1_ENST00000452455.2_Silent_p.F918F|MYBPC1_ENST00000441232.1_Silent_p.F918F|MYBPC1_ENST00000551300.1_Silent_p.F801F|MYBPC1_ENST00000545503.2_Silent_p.F900F|MYBPC1_ENST00000536007.1_Silent_p.F881F|MYBPC1_ENST00000547509.1_Silent_p.F886F|MYBPC1_ENST00000553190.1_Silent_p.F900F|MYBPC1_ENST00000392934.3_Silent_p.F887F			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	918	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.F925L(1)|p.F918L(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TGGACAAATTCGTGGAGACCG	0.418																																						ENST00000549145.1																			2	Substitution - Missense(2)	p.F925L(1)|p.F918L(1)	lung(2)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(2791-2793)ttC>ttT		myosin binding protein C, slow type							163	167	165					12																	102067366		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.chr12:102067366C>T		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.2754C>T	12.37:g.102067366C>T			Somatic				MYBPC1_ENST00000547405.1_Silent_p.F874F|MYBPC1_ENST00000551300.1_Silent_p.F801F|MYBPC1_ENST00000452455.2_Silent_p.F918F|MYBPC1_ENST00000360610.2_Silent_p.F918F|MYBPC1_ENST00000392934.3_Silent_p.F887F|MYBPC1_ENST00000441232.1_Silent_p.F918F|MYBPC1_ENST00000361466.2_Silent_p.F925F|MYBPC1_ENST00000536007.1_Silent_p.F881F|MYBPC1_ENST00000541119.1_Silent_p.F888F|MYBPC1_ENST00000547509.1_Silent_p.F886F|MYBPC1_ENST00000545503.2_Silent_p.F900F|MYBPC1_ENST00000553190.1_Silent_p.F900F|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Silent_p.F918F|MYBPC1_ENST00000361685.2_Silent_p.F925F	p.F931F			WXS	Illumina GAIIx	Phase_I	Q00872	MYPC1_HUMAN			25	2893	+			918			Ig-like C2-type 6.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	c.2793C>T	CCDS9085.1																																																																																				0.418	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			57	114	0	0	0	1	0	57	114					T	102067366	C	T	102067366	2	4	48	1	0	0	0	0	0	0	0	1	10020	883	31	1		1	MYBPC1	12	102067366	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	28811	102067366	31784529	3072	7540										
SYCP3	50511	broad.mit.edu	37	chr12	102122937	102122937	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccatttcttttttaaattCattttgtgcaccagtaagta	5	7	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:102122937C>A	ENST00000392927.3	-	8	738	c.607G>T	c.(607-609)Gaa>Taa	p.E203*	SYCP3_ENST00000266743.2_Nonsense_Mutation_p.E203*|SYCP3_ENST00000392924.1_Nonsense_Mutation_p.E203*	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	203	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E203K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTTTTAAATTCATTTTGTGCA	0.279																																						ENST00000392927.3																			1	Substitution - Missense(1)	p.E203K(1)	lung(1)	endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						c.(607-609)Gaa>Taa		synaptonemal complex protein 3							68	72	70					12																	102122937		2200	4289	6489	SO:0001587	stop_gained	50511				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	g.chr12:102122937C>A	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.607G>T	12.37:g.102122937C>A	ENSP00000376658:p.Glu203*		Somatic				SYCP3_ENST00000266743.2_Nonsense_Mutation_p.E203*|SYCP3_ENST00000392924.1_Nonsense_Mutation_p.E203*	p.E203*	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	WXS	Illumina GAIIx	Phase_I	Q8IZU3	SYCP3_HUMAN			8	738	-			203			Gln-rich.			Nonsense_Mutation	SNP	ENST00000392927.3	37	c.607G>T	CCDS9087.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525016	0.85600	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.37	4.48	0.54585	.	0.188111	0.44285	D	0.000464	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-8.8847	13.7728	0.63036	0.0:0.9257:0.0:0.0743	.	.	.	.	X	203	.	ENSP00000266743:E203X	E	-	1	0	SYCP3	100647068	1.000000	0.71417	0.987000	0.45799	0.969000	0.65631	6.813000	0.75231	1.258000	0.44101	0.455000	0.32223	GAA		0.279	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		6	17	1	0	0.00116845	1	0.00122532	6	17					A	102122937	C	A	102122937	4	1	48	1	0	0	0	0	0	1	0	0	15449	835	29	2	111	2	SYCP3	12	102122937	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	55571	102122937	31728958	3073	7541										
GNPTAB	79158	broad.mit.edu	37	chr12	102153891	102153891	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggaagcatttttgagcaatTtattagcatgtgttccagac	9	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:102153891T>G	ENST00000299314.7	-	16	3428	c.3166A>C	c.(3166-3168)Aat>Cat	p.N1056H		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1056					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						TTTGAGCAATTTATTAGCATG	0.353																																						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.(3166-3168)Aat>Cat		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							195	186	189					12																	102153891		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.chr12:102153891T>G	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.3166A>C	12.37:g.102153891T>G	ENSP00000299314:p.Asn1056His		Somatic					p.N1056H	NM_024312.4	NP_077288.2	WXS	Illumina GAIIx	Phase_I	Q3T906	GNPTA_HUMAN			16	3428	-			1056					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.3166A>C	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.215083	0.79352	.	.	ENSG00000111670	ENST00000299314	D	0.96885	-4.16	5.71	5.71	0.89125	.	0.047494	0.85682	D	0.000000	D	0.98046	0.9356	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99026	1.0819	10	0.87932	D	0	-30.7947	15.9958	0.80243	0.0:0.0:0.0:1.0	.	1056	Q3T906	GNPTA_HUMAN	H	1056	ENSP00000299314:N1056H	ENSP00000299314:N1056H	N	-	1	0	GNPTAB	100678022	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	7.673000	0.83973	2.188000	0.69820	0.533000	0.62120	AAT		0.353	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			20	49	0	0	0	1	0	20	49					G	102153891	T	G	102153891	3	3	48	1	0	0	0	0	1	0	0	0	6553	1841	64	4	628	4	GNPTAB	12	102153891	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	30954	102153891	31698004	3074	7542										
C12orf42	374470	broad.mit.edu	37	chr12	103700009	103700009	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggagaggaacggaattctTcatagctttcttcatcaaaa	8	8	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:103700009T>G	ENST00000378113.2	-	5	599	c.374A>C	c.(373-375)gAa>gCa	p.E125A	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.E125A|C12orf42_ENST00000548048.1_Missense_Mutation_p.E58A|C12orf42_ENST00000548789.1_5'UTR	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	125										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						ACGGAATTCTTCATAGCTTTC	0.453																																						ENST00000548048.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(172-174)gAa>gCa		chromosome 12 open reading frame 42							81	82	81					12																	103700009		1854	4094	5948	SO:0001583	missense	374470							g.chr12:103700009T>G	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.374A>C	12.37:g.103700009T>G	ENSP00000367353:p.Glu125Ala		Somatic				C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.E125A|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000378113.2_Missense_Mutation_p.E125A	p.E58A			WXS	Illumina GAIIx	Phase_I	Q96LP6	CL042_HUMAN			8	669	-			125					Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	c.173A>C	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	T	0.071	-1.202210	0.01581	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113;ENST00000552578	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.12	0.0417	0.14214	.	3.026040	0.01415	N	0.014166	T	0.26304	0.0642	N	0.19112	0.55	0.09310	N	1	B	0.19331	0.035	B	0.19946	0.027	T	0.07443	-1.0772	10	0.18710	T	0.47	5.3648	3.065	0.06212	0.2383:0.4026:0.0:0.3591	.	125	Q96LP6	CL042_HUMAN	A	125;58;125;125	ENSP00000447908:E125A;ENSP00000449362:E58A;ENSP00000367353:E125A;ENSP00000447795:E125A	ENSP00000367353:E125A	E	-	2	0	C12orf42	102224139	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.765000	0.04730	0.004000	0.14682	-0.384000	0.06662	GAA		0.453	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		5	29	0	0	0	1	0	5	29					G	103700009	T	G	103700009	3	3	48	1	0	0	0	0	1	0	0	0	1690	1783	62	4	716	4	C12orf42	12	103700009	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1546118	103700009	30151886	3075	7543										
STAB2	55576	broad.mit.edu	37	chr12	104122665	104122665	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacggtttaatgccccaggtTcttcggtaccatgtggtcgc	11	11	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104122665T>A	ENST00000388887.2	+	48	5178	c.4974T>A	c.(4972-4974)gtT>gtA	p.V1658V		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						TGCCCCAGGTTCTTCGGTACC	0.488																																						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.(4972-4974)gtT>gtA		stabilin 2							138	128	131					12																	104122665		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.chr12:104122665T>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.4974T>A	12.37:g.104122665T>A			Somatic					p.V1658V	NM_017564.9	NP_060034.9	WXS	Illumina GAIIx	Phase_I	Q8WWQ8	STAB2_HUMAN			48	5178	+			1658			FAS1 5.			Silent	SNP	ENST00000388887.2	37	c.4974T>A	CCDS31888.1																																																																																				0.488	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			9	100	0	0	0	1	0	9	100					A	104122665	T	A	104122665	2	1	48	1	0	0	0	0	0	0	0	1	15253	1770	62	4		4	STAB2	12	104122665	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	422656	104122665	29729230	3076	7544										
STAB2	55576	broad.mit.edu	37	chr12	104134518	104134518	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggtgctgcaagggctacttCgggcgagactgtcagggtga	17	8	1	2	rs151219602	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104134518C>T	ENST00000388887.2	+	55	6069	c.5865C>T	c.(5863-5865)ttC>ttT	p.F1955F		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						AGGGCTACTTCGGGCGAGACT	0.547													C|||	11	0.00219649	0	0	5008	,	,		18449	0		0	False		,,,				2504	0.0112					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.(5863-5865)ttC>ttT		stabilin 2		C		1,4405	2.1+/-5.4	0,1,2202	109	97	101		5865	-0.2	0.1	12	dbSNP_134	101	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	STAB2	NM_017564.9		0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384		1955/2552	104134518	5,13001	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.chr12:104134518C>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.5865C>T	12.37:g.104134518C>T			Somatic					p.F1955F	NM_017564.9	NP_060034.9	WXS	Illumina GAIIx	Phase_I	Q8WWQ8	STAB2_HUMAN			55	6069	+			1955						Silent	SNP	ENST00000388887.2	37	c.5865C>T	CCDS31888.1																																																																																				0.547	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			16	85	0	0	0	1	0	16	85					T	104134518	C	T	104134518	2	4	48	1	0	0	0	0	0	0	0	1	15253	883	31	1		1	STAB2	12	104134518	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	11853	104134518	29717377	3077	7545										
HSP90B1	7184	broad.mit.edu	37	chr12	104335423	104335423	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttagctctatgtgcgccgtgTattcatcacagacgacttcc	8	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104335423T>C	ENST00000299767.5	+	10	1429	c.1247T>C	c.(1246-1248)gTa>gCa	p.V416A		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	416					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GTGCGCCGTGTATTCATCACA	0.378																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(1246-1248)gTa>gCa		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						129	122	124					12																	104335423		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104335423T>C	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1247T>C	12.37:g.104335423T>C	ENSP00000299767:p.Val416Ala		Somatic					p.V416A	NM_003299.1	NP_003290.1	WXS	Illumina GAIIx	Phase_I	P14625	ENPL_HUMAN			10	1429	+			416					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.1247T>C	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.315427	0.81358	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.27256	1.68	5.34	5.34	0.76211	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	H	0.99881	4.885	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.86795	0.1988	10	0.87932	D	0	.	15.318	0.74095	0.0:0.0:0.0:1.0	.	416	P14625	ENPL_HUMAN	A	416;166	ENSP00000299767:V416A	ENSP00000299767:V416A	V	+	2	0	HSP90B1	102859553	1.000000	0.71417	0.237000	0.24090	0.801000	0.45260	8.040000	0.89188	1.997000	0.58415	0.533000	0.62120	GTA		0.378	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		24	49	0	0	0	1	0	24	49					C	104335423	T	C	104335423	3	2	48	1	0	0	0	0	1	0	0	0	7412	1638	57	4	1285	4	HSP90B1	12	104335423	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	200905	104335423	29516472	3078	7546										
HSP90B1	7184	broad.mit.edu	37	chr12	104336433	104336433	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgtgattgaagaccactcGaatcgaacacgtcttgctaa	10	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104336433G>A	ENST00000299767.5	+	12	1685	c.1503G>A	c.(1501-1503)tcG>tcA	p.S501S		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	501					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	AAGACCACTCGAATCGAACAC	0.393																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(1501-1503)tcG>tcA		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						118	116	116					12																	104336433		2203	4300	6503	SO:0001819	synonymous_variant	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104336433G>A	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1503G>A	12.37:g.104336433G>A			Somatic					p.S501S	NM_003299.1	NP_003290.1	WXS	Illumina GAIIx	Phase_I	P14625	ENPL_HUMAN			12	1685	+			501					Q96A97	Silent	SNP	ENST00000299767.5	37	c.1503G>A	CCDS9094.1																																																																																				0.393	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		17	39	0	0	0	1	0	17	39					A	104336433	G	A	104336433	2	1	48	1	0	0	0	0	0	0	0	1	7412	1045	37	1		1	HSP90B1	12	104336433	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1010	104336433	29515462	3079	7547										
TDG	6996	broad.mit.edu	37	chr12	104373823	104373823	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accaagactctccccgatatTttgaccttcaatctggacat	5	13	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104373823T>A	ENST00000392872.3	+	3	615	c.381T>A	c.(379-381)atT>atA	p.I127I	TDG_ENST00000266775.9_Silent_p.I123I|TDG_ENST00000542036.1_De_novo_Start_OutOfFrame|TDG_ENST00000544861.1_De_novo_Start_InFrame	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	127					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TCCCCGATATTTTGACCTTCA	0.358								Base excision repair (BER), DNA glycosylases																														ENST00000542036.1																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24							Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase							50	49	49					12																	104373823		2203	4300	6503	SO:0001819	synonymous_variant	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104373823T>A	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"G/T mismatch-specific thymine DNA glycosylase"	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.381T>A	12.37:g.104373823T>A			Somatic				TDG_ENST00000266775.9_Silent_p.I123I|TDG_ENST00000544861.1_De_novo_Start_InFrame|TDG_ENST00000392872.3_Silent_p.I127I				WXS	Illumina GAIIx	Phase_I	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	0	91	+								Q8IUZ6|Q8IZM3	Translation_Start_Site	SNP	ENST00000392872.3	37		CCDS9095.1																																																																																				0.358	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			19	41	0	0	0	1	0	19	41					A	104373823	T	A	104373823	2	1	48	1	0	0	0	0	0	0	0	1	15740	1829	64	4		4	TDG	12	104373823	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	37390	104373823	29478072	3080	7548										
HCFC2	29915	broad.mit.edu	37	chr12	104492166	104492166	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccacagtgaaagcgggagaaCgacaatggtgtgatgtggga	16	6	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104492166C>T	ENST00000229330.4	+	13	1890	c.1786C>T	c.(1786-1788)Cga>Tga	p.R596*	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	596	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.R596*(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						AGCGGGAGAACGACAATGGTG	0.358																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			1	Substitution - Nonsense(1)	p.R596*(1)	endometrium(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.(1786-1788)Cga>Tga		host cell factor C2							45	49	48					12																	104492166		2203	4300	6503	SO:0001587	stop_gained	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104492166C>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.1786C>T	12.37:g.104492166C>T	ENSP00000229330:p.Arg596*		Somatic				HCFC2_ENST00000550335.1_3'UTR	p.R596*	NM_013320.2	NP_037452.1	WXS	Illumina GAIIx	Phase_I	Q9Y5Z7	HCFC2_HUMAN			13	1890	+			596			Fibronectin type-III 2.		B2R8Q5|C0H5X3	Nonsense_Mutation	SNP	ENST00000229330.4	37	c.1786C>T	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	C	38	7.046705	0.98025	.	.	ENSG00000111727	ENST00000229330	.	.	.	5.31	3.36	0.38483	.	0.470007	0.22155	N	0.063863	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3476	13.0981	0.59204	0.4188:0.5812:0.0:0.0	.	.	.	.	X	596	.	ENSP00000229330:R596X	R	+	1	2	HCFC2	103016296	0.997000	0.39634	1.000000	0.80357	0.878000	0.50629	1.701000	0.37825	1.191000	0.43056	0.650000	0.86243	CGA		0.358	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		15	26	0	0	0	1	0	15	26					T	104492166	C	T	104492166	4	4	48	1	0	0	0	0	0	1	0	0	7002	528	19	1	1836	1	HCFC2	12	104492166	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	118343	104492166	29359729	3081	7549										
CHST11	50515	broad.mit.edu	37	chr12	105151374	105151374	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagtacgagacactggaagaGgattctaattacgtcctgca	10	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:105151374G>T	ENST00000303694.5	+	3	1291	c.852G>T	c.(850-852)gaG>gaT	p.E284D	CHST11_ENST00000549260.1_Missense_Mutation_p.E279D	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	284					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CACTGGAAGAGGATTCTAATT	0.517																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(850-852)gaG>gaT		carbohydrate (chondroitin 4) sulfotransferase 11							121	103	109					12																	105151374		2203	4300	6503	SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105151374G>T	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"Sulfotransferases, membrane-bound"	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.852G>T	12.37:g.105151374G>T	ENSP00000305725:p.Glu284Asp		Somatic				CHST11_ENST00000549260.1_Missense_Mutation_p.E279D	p.E284D	NM_018413.5	NP_060883.1	WXS	Illumina GAIIx	Phase_I	Q9NPF2	CHSTB_HUMAN			3	1291	+			284					A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.852G>T	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	G	9.946	1.218797	0.22373	.	.	ENSG00000171310	ENST00000549260;ENST00000303694	T;T	0.74209	-0.82;-0.82	5.37	1.14	0.20703	.	0.145331	0.64402	D	0.000009	T	0.49643	0.1569	N	0.16602	0.42	0.80722	D	1	B;B	0.13594	0.0;0.008	B;B	0.18871	0.003;0.023	T	0.16100	-1.0414	10	0.20046	T	0.44	-32.8582	3.3252	0.07064	0.1371:0.1163:0.5078:0.2388	.	279;284	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	D	279;284	ENSP00000450004:E279D;ENSP00000305725:E284D	ENSP00000305725:E284D	E	+	3	2	CHST11	103675504	0.973000	0.33851	1.000000	0.80357	0.986000	0.74619	0.119000	0.15626	0.615000	0.30124	-0.266000	0.10368	GAG		0.517	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		21	28	1	0	1.00905e-13	1	1.29777e-13	21	28					T	105151374	G	T	105151374	3	4	48	1	0	0	0	0	1	0	0	0	3401	991	35	5	862	5	CHST11	12	105151374	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	659208	105151374	28700521	3082	7550										
KIAA1033	23325	broad.mit.edu	37	chr12	105527584	105527584	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacgtctttgtgagctcatgGatgatgaaaatggaatctat	10	5	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:105527584G>A	ENST00000332180.5	+	14	1323	c.1236G>A	c.(1234-1236)tgG>tgA	p.W412*		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TGAGCTCATGGATGATGAAAA	0.333																																						ENST00000332180.5																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(1234-1236)tgG>tgA		KIAA1033							187	180	182					12																	105527584		1857	4097	5954	SO:0001587	stop_gained	23325				endosome transport	WASH complex		g.chr12:105527584G>A	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.1236G>A	12.37:g.105527584G>A	ENSP00000328062:p.Trp412*		Somatic					p.W412*	NM_015275.1	NP_056090.1	WXS	Illumina GAIIx	Phase_I	Q2M389	WAHS7_HUMAN			14	1323	+			412						Nonsense_Mutation	SNP	ENST00000332180.5	37	c.1236G>A	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	G	38	7.198910	0.98129	.	.	ENSG00000136051	ENST00000332180	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.328	0.98708	0.0:0.0:1.0:0.0	.	.	.	.	X	412	.	ENSP00000328062:W412X	W	+	3	0	KIAA1033	104051714	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.841000	0.99482	2.802000	0.96397	0.561000	0.74099	TGG		0.333	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		20	48	0	0	0	1	0	20	48					A	105527584	G	A	105527584	4	1	48	1	0	0	0	0	0	1	0	0	8215	1183	41	3	1290	3	KIAA1033	12	105527584	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	376210	105527584	28324311	3083	7551										
KIAA1033	23325	broad.mit.edu	37	chr12	105535003	105535003	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtcatgaaaaaactggatcTtattagtgaacttagagaac	8	5	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:105535003T>G	ENST00000332180.5	+	18	1853	c.1766T>G	c.(1765-1767)cTt>cGt	p.L589R		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAACTGGATCTTATTAGTGAA	0.363																																						ENST00000332180.5																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(1765-1767)cTt>cGt		KIAA1033							137	137	137					12																	105535003		1847	4089	5936	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105535003T>G	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.1766T>G	12.37:g.105535003T>G	ENSP00000328062:p.Leu589Arg		Somatic					p.L589R	NM_015275.1	NP_056090.1	WXS	Illumina GAIIx	Phase_I	Q2M389	WAHS7_HUMAN			18	1853	+			589						Missense_Mutation	SNP	ENST00000332180.5	37	c.1766T>G	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.827007	0.71143	.	.	ENSG00000136051	ENST00000332180	T	0.29397	1.57	5.69	5.69	0.88448	.	0.062472	0.64402	D	0.000004	T	0.33847	0.0877	L	0.50333	1.59	0.80722	D	1	P;P	0.35328	0.495;0.495	B;B	0.37304	0.246;0.246	T	0.11421	-1.0588	10	0.54805	T	0.06	.	15.9573	0.79896	0.0:0.0:0.0:1.0	.	590;589	B7ZKT9;Q2M389	.;WASH7_HUMAN	R	589	ENSP00000328062:L589R	ENSP00000328062:L589R	L	+	2	0	KIAA1033	104059133	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.032000	0.88838	2.156000	0.67533	0.528000	0.53228	CTT		0.363	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		32	61	0	0	0	1	0	32	61					G	105535003	T	G	105535003	3	3	48	1	0	0	0	0	1	0	0	0	8215	1609	56	4	1836	4	KIAA1033	12	105535003	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	7419	105535003	28316892	3084	7552										
CKAP4	10970	broad.mit.edu	37	chr12	106633909	106633909	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccgctcctccaccgtgttCtccagggacgtgaagtcccg	11	16	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:106633909C>A	ENST00000378026.4	-	2	838	c.702G>T	c.(700-702)gaG>gaT	p.E234D	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	234						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CCACCGTGTTCTCCAGGGACG	0.552																																						ENST00000378026.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						c.(700-702)gaG>gaT		cytoskeleton-associated protein 4							89	85	86					12																	106633909		2203	4300	6503	SO:0001583	missense	10970					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		g.chr12:106633909C>A	X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.702G>T	12.37:g.106633909C>A	ENSP00000367265:p.Glu234Asp		Somatic				CKAP4_ENST00000552828.1_5'UTR	p.E234D	NM_006825.3	NP_006816.2	WXS	Illumina GAIIx	Phase_I	Q07065	CKAP4_HUMAN			2	838	-			234					Q504S5|Q53ES6	Missense_Mutation	SNP	ENST00000378026.4	37	c.702G>T	CCDS9103.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369775	0.82573	.	.	ENSG00000136026	ENST00000378026	D	0.84800	-1.9	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.90280	0.6960	M	0.76328	2.33	0.48087	D	0.999586	D	0.89917	1.0	D	0.85130	0.997	D	0.89310	0.3632	10	0.45353	T	0.12	-31.8671	7.597	0.28054	0.0:0.807:0.0:0.193	.	234	Q07065	CKAP4_HUMAN	D	234	ENSP00000367265:E234D	ENSP00000367265:E234D	E	-	3	2	CKAP4	105158039	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.749000	0.47492	2.758000	0.94735	0.563000	0.77884	GAG		0.552	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407196.1			37	63	1	0	9.45814e-24	1	1.32461e-23	37	63					A	106633909	C	A	106633909	3	1	48	1	0	0	0	0	1	0	0	0	3446	912	32	2	1110	2	CKAP4	12	106633909	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1098906	106633909	27217986	3085	7553										
BTBD11	121551	broad.mit.edu	37	chr12	108004065	108004065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccggatgctgaactgtggacGaacagacctggtgaagcagg	15	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108004065G>A	ENST00000280758.5	+	5	2270	c.1742G>A	c.(1741-1743)cGa>cAa	p.R581Q	BTBD11_ENST00000420571.2_Missense_Mutation_p.R581Q|BTBD11_ENST00000490090.2_Missense_Mutation_p.R581Q|BTBD11_ENST00000357167.4_Missense_Mutation_p.R118Q|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	581						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						AACTGTGGACGAACAGACCTG	0.582											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1741-1743)cGa>cAa		BTB (POZ) domain containing 11							150	131	137					12																	108004065		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108004065G>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.1742G>A	12.37:g.108004065G>A	ENSP00000280758:p.Arg581Gln		Somatic	OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Missense_Mutation_p.R118Q|BTBD11_ENST00000490090.2_Missense_Mutation_p.R581Q|BTBD11_ENST00000420571.2_Missense_Mutation_p.R581Q	p.R581Q	NM_001018072.1	NP_001018082.1	WXS	Illumina GAIIx	Phase_I	A6QL63	BTBDB_HUMAN			5	2270	+			581					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1742G>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	34	5.359144	0.95854	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943;ENST00000357167	T;T;T;T;T;T	0.64260	0.66;-0.09;0.66;0.27;0.35;0.66	5.65	5.65	0.86999	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.72906	0.3519	L	0.35542	1.07	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.97110	0.99;0.994;0.994;1.0	T	0.74873	-0.3516	10	0.72032	D	0.01	.	19.7056	0.96070	0.0:0.0:1.0:0.0	.	581;118;581;581	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	Q	581;581;581;212;215;118	ENSP00000280758:R581Q;ENSP00000413889:R581Q;ENSP00000447319:R581Q;ENSP00000447606:R212Q;ENSP00000407416:R215Q;ENSP00000349690:R118Q	ENSP00000280758:R581Q	R	+	2	0	BTBD11	106528195	1.000000	0.71417	0.950000	0.38849	0.699000	0.40488	9.808000	0.99193	2.659000	0.90383	0.462000	0.41574	CGA		0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		37	85	0	0	0	1	0	37	85					A	108004065	G	A	108004065	3	1	48	1	0	0	0	0	1	0	0	0	1541	1058	37	1	1865	1	BTBD11	12	108004065	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1370156	108004065	25847830	3086	7554										
BTBD11	121551	broad.mit.edu	37	chr12	108010898	108010898	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctggggccaaggtggaaggCtcagtggagcatggcgagga	20	7	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108010898C>T	ENST00000280758.5	+	8	2562	c.2034C>T	c.(2032-2034)ggC>ggT	p.G678G	BTBD11_ENST00000420571.2_Silent_p.G678G|BTBD11_ENST00000490090.2_Silent_p.G678G|BTBD11_ENST00000357167.4_Silent_p.G215G|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	678						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						AGGTGGAAGGCTCAGTGGAGC	0.592																																						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.(2032-2034)ggC>ggT		BTB (POZ) domain containing 11							133	113	120					12																	108010898		2203	4300	6503	SO:0001819	synonymous_variant	121551					integral to membrane	DNA binding	g.chr12:108010898C>T	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2034C>T	12.37:g.108010898C>T			Somatic				RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Silent_p.G215G|BTBD11_ENST00000490090.2_Silent_p.G678G|BTBD11_ENST00000420571.2_Silent_p.G678G	p.G678G	NM_001018072.1	NP_001018082.1	WXS	Illumina GAIIx	Phase_I	A6QL63	BTBDB_HUMAN			8	2562	+			678					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	c.2034C>T	CCDS31893.1																																																																																				0.592	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		33	57	0	0	0	1	0	33	57					T	108010898	C	T	108010898	2	4	48	1	0	0	0	0	0	0	0	1	1541	784	28	3		3	BTBD11	12	108010898	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	6833	108010898	25840997	3087	7555										
PWP1	11137	broad.mit.edu	37	chr12	108104226	108104226	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgccctgatttgccatttatTtatgcctttggaggtcaaaa	8	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108104226T>G	ENST00000412830.3	+	14	1503	c.1335T>G	c.(1333-1335)atT>atG	p.I445M	PWP1_ENST00000541166.1_Missense_Mutation_p.I383M	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	445					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGCCATTTATTTATGCCTTTG	0.448																																						ENST00000412830.3																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						c.(1333-1335)atT>atG		PWP1 homolog (S. cerevisiae)							170	170	170					12																	108104226		2203	4300	6503	SO:0001583	missense	11137				transcription, DNA-dependent	nucleus		g.chr12:108104226T>G	BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"WD repeat domain containing"	17015	protein-coding gene	gene with protein product	"endonuclein"					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.1335T>G	12.37:g.108104226T>G	ENSP00000387365:p.Ile445Met		Somatic				PWP1_ENST00000541166.1_Missense_Mutation_p.I383M	p.I445M	NM_007062.1	NP_008993.1	WXS	Illumina GAIIx	Phase_I	Q13610	PWP1_HUMAN			14	1503	+			445					A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	37	c.1335T>G	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.820502	0.32145	.	.	ENSG00000136045	ENST00000412830;ENST00000541166	T;T	0.35236	1.32;1.99	5.75	2.0	0.26442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.426346	0.27451	N	0.019304	T	0.16811	0.0404	N	0.08118	0	0.29136	N	0.879324	B	0.13594	0.008	B	0.17098	0.017	T	0.10222	-1.0639	10	0.46703	T	0.11	.	6.0854	0.19964	0.0:0.2046:0.1267:0.6687	.	445	Q13610	PWP1_HUMAN	M	445;383	ENSP00000387365:I445M;ENSP00000445249:I383M	ENSP00000387365:I445M	I	+	3	3	PWP1	106628356	0.591000	0.26824	0.998000	0.56505	0.998000	0.95712	-0.302000	0.08221	0.427000	0.26145	0.528000	0.53228	ATT		0.448	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062		5	62	0	0	0	1	0	5	62					G	108104226	T	G	108104226	3	3	48	1	0	0	0	0	1	0	0	0	12858	1829	64	4	1389	4	PWP1	12	108104226	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	93328	108104226	25747669	3088	7556										
PRDM4	11108	broad.mit.edu	37	chr12	108145727	108145727	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attgggctggtaaccctagaAacgttctccatagtgattgc	10	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108145727A>C	ENST00000228437.5	-	5	1050	c.591T>G	c.(589-591)gtT>gtG	p.V197V	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	197					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TAACCCTAGAAACGTTCTCCA	0.512																																						ENST00000228437.5																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(589-591)gtT>gtG		PR domain containing 4							145	130	135					12																	108145727		2203	4300	6503	SO:0001819	synonymous_variant	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108145727A>C	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"Zinc fingers, C2H2-type"	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.591T>G	12.37:g.108145727A>C			Somatic				RP11-864J10.4_ENST00000546714.1_RNA	p.V197V	NM_012406.3	NP_036538.3	WXS	Illumina GAIIx	Phase_I	Q9UKN5	PRDM4_HUMAN			5	1050	-			197					Q9UFA6	Silent	SNP	ENST00000228437.5	37	c.591T>G	CCDS9115.1																																																																																				0.512	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		37	51	0	0	0	1	0	37	51					C	108145727	A	C	108145727	2	2	48	1	0	0	0	0	0	0	0	1	12471	1	1	4		4	PRDM4	12	108145727	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	41501	108145727	25706168	3089	7557										
WSCD2	9671	broad.mit.edu	37	chr12	108626509	108626509	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catgctccgcccttttcagaCaaccgttgcatggacagaag	9	13	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108626509C>T	ENST00000332082.4	+	8	1799	c.981C>T	c.(979-981)gaC>gaT	p.D327D	WSCD2_ENST00000549903.1_Splice_Site_p.D327D|WSCD2_ENST00000547525.1_Splice_Site_p.D327D|WSCD2_ENST00000261400.3_Splice_Site_p.D327D			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	327						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						ccttttCAGACAACCGTTGCA	0.592																																						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.e8-1		WSC domain containing 2							34	31	32					12																	108626509		2011	4185	6196	SO:0001630	splice_region_variant	9671					integral to membrane		g.chr12:108626509C>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.980-1C>T	12.37:g.108626509C>T			Somatic				WSCD2_ENST00000261400.3_Splice_Site_p.D327_splice|WSCD2_ENST00000549903.1_Splice_Site_p.D327_splice|WSCD2_ENST00000547525.1_Splice_Site_p.D327_splice	p.D327_splice			WXS	Illumina GAIIx	Phase_I	Q2TBF2	WSCD2_HUMAN			8	1799	+			327					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Splice_Site	SNP	ENST00000332082.4	37	c.979_splice	CCDS41828.1																																																																																				0.592	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	Silent	13	18	0	0	0	1	0	13	18					T	108626509	C	T	108626509	5	4	48	1	0	0	0	0	0	0	1	0	17422	492	17	3	1003	3	WSCD2	12	108626509	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	480782	108626509	25225386	3090	7558										
CMKLR1	1240	broad.mit.edu	37	chr12	108685654	108685654	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccctctcattcatagaagtCctctcattcattgatgacat	4	12	4	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108685654C>A	ENST00000312143.7	-	3	1449	c.1086G>T	c.(1084-1086)agG>agT	p.R362S	CMKLR1_ENST00000397688.2_Missense_Mutation_p.R360S|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R362S|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R362S|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R360S	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	362					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TCATAGAAGTCCTCTCATTCA	0.498																																						ENST00000312143.7																			0				endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						c.(1084-1086)agG>agT		chemokine-like receptor 1							117	121	120					12																	108685654		1919	4135	6054	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.chr12:108685654C>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.1086G>T	12.37:g.108685654C>A	ENSP00000311733:p.Arg362Ser		Somatic				CMKLR1_ENST00000552995.1_Missense_Mutation_p.R360S|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R362S|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R362S|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R360S	p.R362S	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	WXS	Illumina GAIIx	Phase_I	Q99788	CML1_HUMAN			3	1449	-			362					A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.1086G>T	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	c	5.844	0.339905	0.11069	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.68765	-0.35;-0.35;-0.34;-0.34;-0.35	4.86	3.97	0.46021	.	0.722215	0.12881	N	0.431447	T	0.44705	0.1306	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.29366	-1.0014	10	0.34782	T	0.22	.	8.9157	0.35581	0.0:0.8957:0.0:0.1043	.	362	Q99788	CML1_HUMAN	S	362;362;360;360;362	ENSP00000311733:R362S;ENSP00000401293:R362S;ENSP00000380803:R360S;ENSP00000447579:R360S;ENSP00000449716:R362S	ENSP00000311733:R362S	R	-	3	2	CMKLR1	107209784	0.105000	0.21958	0.013000	0.15412	0.269000	0.26545	2.462000	0.45049	1.028000	0.39785	0.556000	0.70494	AGG		0.498	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			21	60	1	0	6.33239e-15	1	8.29613e-15	21	60					A	108685654	C	A	108685654	3	1	48	1	0	0	0	0	1	0	0	0	3581	854	30	2	39	2	CMKLR1	12	108685654	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	59145	108685654	25166241	3091	7559										
CMKLR1	1240	broad.mit.edu	37	chr12	108686288	108686288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtaagccaggcgaacgctgCggtggttctgggaccagaca	15	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108686288C>T	ENST00000312143.7	-	3	815	c.452G>A	c.(451-453)cGc>cAc	p.R151H	CMKLR1_ENST00000397688.2_Missense_Mutation_p.R149H|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R151H|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R151H|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R149H	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	151					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GCGAACGCTGCGGTGGTTCTG	0.567																																						ENST00000312143.7																			0				endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						c.(451-453)cGc>cAc		chemokine-like receptor 1							75	78	77					12																	108686288		2145	4253	6398	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.chr12:108686288C>T	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.452G>A	12.37:g.108686288C>T	ENSP00000311733:p.Arg151His		Somatic				CMKLR1_ENST00000552995.1_Missense_Mutation_p.R149H|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R151H|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R151H|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R149H	p.R151H	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	WXS	Illumina GAIIx	Phase_I	Q99788	CML1_HUMAN			3	815	-			151					A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.452G>A	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	c	20.5	3.999507	0.74818	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74245	0.3691	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82074	-0.0637	10	0.87932	D	0	.	17.788	0.88543	0.0:1.0:0.0:0.0	.	151	Q99788	CML1_HUMAN	H	151;151;149;149;151	ENSP00000311733:R151H;ENSP00000401293:R151H;ENSP00000380803:R149H;ENSP00000447579:R149H;ENSP00000449716:R151H	ENSP00000311733:R151H	R	-	2	0	CMKLR1	107210418	1.000000	0.71417	0.977000	0.42913	0.254000	0.26022	7.786000	0.85741	2.448000	0.82819	0.486000	0.48141	CGC		0.567	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			4	90	0	0	0	1	0	4	90					T	108686288	C	T	108686288	3	4	48	1	0	0	0	0	1	0	0	0	3581	768	27	1	673	1	CMKLR1	12	108686288	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	634	108686288	25165607	3092	7560										
SART3	9733	broad.mit.edu	37	chr12	108931363	108931363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccggcattcaaagctttctCgaaggttactggagttggag	13	8	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108931363C>T	ENST00000228284.3	-	9	1444	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	SART3_ENST00000431469.2_Intron	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	404					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						AAAGCTTTCTCGAAGGTTACT	0.403									Porokeratosis																													ENST00000228284.3																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						c.(1210-1212)Gag>Aag		squamous cell carcinoma antigen recognized by T cells 3							71	66	68					12																	108931363		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.chr12:108931363C>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.1210G>A	12.37:g.108931363C>T	ENSP00000228284:p.Glu404Lys		Somatic				SART3_ENST00000431469.2_Intron	p.E404K	NM_014706.3	NP_055521.1	WXS	Illumina GAIIx	Phase_I	Q15020	SART3_HUMAN			9	1444	-			404					A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	c.1210G>A	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	C	35	5.449772	0.96205	.	.	ENSG00000075856	ENST00000228284;ENST00000412617;ENST00000546815	T;T	0.34472	1.36;1.36	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.76575	0.915;0.988;0.879	T	0.64118	-0.6482	10	0.49607	T	0.09	-36.4201	20.3343	0.98733	0.0:1.0:0.0:0.0	.	352;422;404	E7EMI4;F8VV04;Q15020	.;.;SART3_HUMAN	K	404;352;422	ENSP00000228284:E404K;ENSP00000449386:E422K	ENSP00000228284:E404K	E	-	1	0	SART3	107455493	1.000000	0.71417	0.976000	0.42696	0.895000	0.52256	7.378000	0.79679	2.822000	0.97130	0.650000	0.86243	GAG		0.403	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			16	22	0	0	0	1	0	16	22					T	108931363	C	T	108931363	3	4	48	1	0	0	0	0	1	0	0	0	13862	893	31	1	1725	1	SART3	12	108931363	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	245075	108931363	24920532	3093	7561										
MYO1H	283446	broad.mit.edu	37	chr12	109863801	109863801	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccttctagaaaccctcatCtctaaggagccctcctacat	5	15	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:109863801C>A	ENST00000431443.2	+	17	1758	c.1758C>A	c.(1756-1758)atC>atA	p.I586I	MYO1H_ENST00000310903.5_Silent_p.I576I	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	586	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						AAACCCTCATCTCTAAGGAGC	0.502																																						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.(1726-1728)atC>atA		myosin IH							70	69	69					12																	109863801		1972	4174	6146	SO:0001819	synonymous_variant	283446					myosin complex	motor activity	g.chr12:109863801C>A		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.1758C>A	12.37:g.109863801C>A			Somatic				MYO1H_ENST00000431443.2_Silent_p.I586I	p.I576I			WXS	Illumina GAIIx	Phase_I	B4DNW6	B4DNW6_HUMAN			18	1834	+			0					F5H3C6	Silent	SNP	ENST00000431443.2	37	c.1728C>A																																																																																					0.502	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		18	31	1	0	6.94344e-10	1	8.4399e-10	18	31					A	109863801	C	A	109863801	2	1	48	1	0	0	0	0	0	0	0	1	10084	903	32	2		2	MYO1H	12	109863801	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	932438	109863801	23988094	3094	7562										
MMAB	326625	broad.mit.edu	37	chr12	109994855	109994855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagtccctcagactcggccGatgggtcatttttcatgtat	10	10	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:109994855G>A	ENST00000545712.2	-	9	1124	c.731C>T	c.(730-732)tCg>tTg	p.S244L	MMAB_ENST00000540016.1_Missense_Mutation_p.S192L|MMAB_ENST00000266839.5_Missense_Mutation_p.S153L	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	244					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGACTCGGCCGATGGGTCATT	0.532																																						ENST00000545712.2																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(730-732)tCg>tTg		methylmalonic aciduria (cobalamin deficiency) cblB type	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						110	95	100					12																	109994855		2203	4300	6503	SO:0001583	missense	326625				cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity	g.chr12:109994855G>A	AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"ATP:cob(I)alamin adenosyltransferase", "cilia and flagella associated protein 23"	607568	"methylmalonic aciduria (cobalamin deficiency) type B"			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.731C>T	12.37:g.109994855G>A	ENSP00000445920:p.Ser244Leu		Somatic				MMAB_ENST00000540016.1_Missense_Mutation_p.S192L|MMAB_ENST00000266839.5_Missense_Mutation_p.S153L	p.S244L	NM_052845.3	NP_443077.1	WXS	Illumina GAIIx	Phase_I	Q96EY8	MMAB_HUMAN			9	1124	-			244					C5HU05|Q9BSH0	Missense_Mutation	SNP	ENST00000545712.2	37	c.731C>T	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368300	0.24771	.	.	ENSG00000139428	ENST00000545712;ENST00000266839	D;D	0.89552	-1.68;-2.53	4.62	0.397	0.16314	.	1.217880	0.06040	N	0.654683	T	0.82047	0.4952	L	0.44542	1.39	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.63752	-0.6566	10	0.44086	T	0.13	3.8071	0.863	0.01197	0.195:0.155:0.3593:0.2906	.	153;244;244	B4DHP4;B2R6J3;Q96EY8	.;.;MMAB_HUMAN	L	244;153	ENSP00000445920:S244L;ENSP00000266839:S153L	ENSP00000266839:S153L	S	-	2	0	MMAB	108479238	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.325000	0.07976	-0.126000	0.11682	-1.108000	0.02087	TCG		0.532	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2			19	24	0	0	0	1	0	19	24					A	109994855	G	A	109994855	3	1	48	1	0	0	0	0	1	0	0	0	9649	1059	37	1	25	1	MMAB	12	109994855	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	131054	109994855	23857040	3095	7563										
ANKRD13A	88455	broad.mit.edu	37	chr12	110451051	110451051	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagctgctccaaaaaattctCgaggtatccatgaaaatgtg	9	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:110451051C>T	ENST00000261739.4	+	3	517	c.351C>T	c.(349-351)ctC>ctT	p.L117L	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	117						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						AAAAAATTCTCGAGGTATCCA	0.468																																						ENST00000261739.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						c.(349-351)ctC>ctT		ankyrin repeat domain 13A							87	75	79					12																	110451051		2203	4300	6503	SO:0001819	synonymous_variant	88455							g.chr12:110451051C>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.351C>T	12.37:g.110451051C>T			Somatic				ANKRD13A_ENST00000550404.1_3'UTR	p.L117L	NM_033121.1	NP_149112.1	WXS	Illumina GAIIx	Phase_I	Q8IZ07	AN13A_HUMAN			3	517	+			117					O60736	Silent	SNP	ENST00000261739.4	37	c.351C>T	CCDS9140.1																																																																																				0.468	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		16	33	0	0	0	1	0	16	33					T	110451051	C	T	110451051	2	4	48	1	0	0	0	0	0	0	0	1	641	871	31	1		1	ANKRD13A	12	110451051	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	456196	110451051	23400844	3096	7564										
IFT81	28981	broad.mit.edu	37	chr12	110618313	110618313	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgaacttaaagctgaattCggtcttttgcagaggactga	11	7	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:110618313C>T	ENST00000242591.5	+	12	1781	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	IFT81_ENST00000552912.1_Silent_p.F425F	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	425					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						AAGCTGAATTCGGTCTTTTGC	0.323																																						ENST00000242591.5																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						c.(1273-1275)ttC>ttT		intraflagellar transport 81 homolog (Chlamydomonas)							86	78	81					12																	110618313		1830	4083	5913	SO:0001819	synonymous_variant	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110618313C>T	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.1275C>T	12.37:g.110618313C>T			Somatic				IFT81_ENST00000552912.1_Silent_p.F425F	p.F425F	NM_014055.3	NP_054774.2	WXS	Illumina GAIIx	Phase_I	Q8WYA0	IFT81_HUMAN			12	1781	+			425					Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Silent	SNP	ENST00000242591.5	37	c.1275C>T	CCDS41831.1																																																																																				0.323	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055		5	16	0	0	0	1	0	5	16					T	110618313	C	T	110618313	2	4	48	1	0	0	0	0	0	0	0	1	7574	883	31	1		1	IFT81	12	110618313	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	167262	110618313	23233582	3097	7565										
GPN3	51184	broad.mit.edu	37	chr12	110902914	110902914	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttgctcaggacttaccagCcatcacggagtagttgaagt	10	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:110902914C>A	ENST00000228827.3	-	2	216	c.154G>T	c.(154-156)Gct>Tct	p.A52S	GPN3_ENST00000537466.2_Missense_Mutation_p.A62S|GPN3_ENST00000543199.1_Missense_Mutation_p.A91S|GPN3_ENST00000552180.1_5'UTR	NM_016301.3	NP_057385.3			GPN-loop GTPase 3											endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						GACTTACCAGCCATCACGGAG	0.522																																						ENST00000543199.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						c.(271-273)Gct>Tct		GPN-loop GTPase 3							150	119	130					12																	110902914		2203	4300	6503	SO:0001583	missense	51184					protein complex	GTP binding	g.chr12:110902914C>A	BC008416	CCDS9147.1, CCDS53830.1, CCDS53831.1	12q24.11	2012-12-18	2008-04-30	2008-04-30	ENSG00000111231	ENSG00000111231		"GPN-loop GTPases"	30186	protein-coding gene	gene with protein product			"ATP binding domain 1 family, member C"	ATPBD1C		12975309	Standard	NM_016301		Approved	MGC14560	uc021rdu.1	Q9UHW5	OTTHUMG00000169524	ENST00000228827.3:c.154G>T	12.37:g.110902914C>A	ENSP00000228827:p.Ala52Ser		Somatic				GPN3_ENST00000552180.1_5'UTR|GPN3_ENST00000537466.2_Missense_Mutation_p.A62S|GPN3_ENST00000228827.3_Missense_Mutation_p.A52S	p.A91S	NM_001164372.1	NP_001157844.1	WXS	Illumina GAIIx	Phase_I	Q9UHW5	GPN3_HUMAN			2	355	-			52						Missense_Mutation	SNP	ENST00000228827.3	37	c.271G>T	CCDS9147.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521216	0.85600	.	.	ENSG00000111231	ENST00000228827;ENST00000543199;ENST00000537466;ENST00000550974	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.76	5.76	0.90799	.	0.046223	0.85682	D	0.000000	T	0.32852	0.0843	M	0.67953	2.075	0.80722	D	1	B;B	0.27140	0.079;0.169	B;B	0.34242	0.071;0.178	T	0.06643	-1.0815	10	0.54805	T	0.06	.	19.9772	0.97314	0.0:1.0:0.0:0.0	.	62;52	Q9UHW5-2;Q9UHW5	.;GPN3_HUMAN	S	52;91;62;30	ENSP00000228827:A52S;ENSP00000442770:A91S;ENSP00000443068:A62S;ENSP00000447480:A30S	ENSP00000228827:A52S	A	-	1	0	GPN3	109387297	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.294000	0.78760	2.724000	0.93272	0.563000	0.77884	GCT		0.522	GPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404607.1	NM_016301		15	31	1	0	4.7546e-09	1	5.67505e-09	15	31					A	110902914	C	A	110902914	3	1	48	1	0	0	0	0	1	0	0	0	6627	739	26	5	728	5	GPN3	12	110902914	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	284601	110902914	22948981	3098	7566										
CUX2	23316	broad.mit.edu	37	chr12	111776197	111776197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagcctgaaggggcgggagCcttttgtccgcatgcagctg	16	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:111776197C>T	ENST00000261726.6	+	20	3458	c.3304C>T	c.(3304-3306)Cct>Tct	p.P1102S	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1102					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGGGCGGGAGCCTTTTGTCCG	0.577																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(3304-3306)Cct>Tct		cut-like homeobox 2							51	59	56					12																	111776197		2010	4200	6210	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111776197C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3304C>T	12.37:g.111776197C>T	ENSP00000261726:p.Pro1102Ser		Somatic					p.P1102S	NM_015267.3	NP_056082.2	WXS	Illumina GAIIx	Phase_I	O14529	CUX2_HUMAN			20	3458	+			1102					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.3304C>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936794	0.92458	.	.	ENSG00000111249	ENST00000261726	T	0.53857	0.6	5.19	5.19	0.71726	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.70316	0.3210	L	0.60455	1.87	0.80722	D	1	D	0.59357	0.985	D	0.72982	0.979	T	0.72265	-0.4344	10	0.62326	D	0.03	-23.2058	18.7516	0.91818	0.0:1.0:0.0:0.0	.	1102	O14529	CUX2_HUMAN	S	1102	ENSP00000261726:P1102S	ENSP00000261726:P1102S	P	+	1	0	CUX2	110260580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.426000	0.82243	0.563000	0.77884	CCT		0.577	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		27	54	0	0	0	1	0	27	54					T	111776197	C	T	111776197	3	4	48	1	0	0	0	0	1	0	0	0	4067	739	26	3	3382	3	CUX2	12	111776197	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	873283	111776197	22075698	3099	7567										
C12orf51	283450	broad.mit.edu	37	chr12	112673048	112673048	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgtcaggttcagaagcggtTggagaaagaactgtctgaca	14	6	3	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:112673048T>C	ENST00000430131.2	-	36	5627	c.4482A>G	c.(4480-4482)ccA>ccG	p.P1494P	HECTD4_ENST00000377560.5_Silent_p.P1744P|HECTD4_ENST00000550722.1_Silent_p.P1770P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1494					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)										CAGAAGCGGTTGGAGAAAGAA	0.423																																						ENST00000550722.1																			0											c.(5308-5310)ccA>ccG		HECT domain containing E3 ubiquitin protein ligase 4							77	75	75					12																	112673048		1889	4121	6010	SO:0001819	synonymous_variant	283450							g.chr12:112673048T>C	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.4482A>G	12.37:g.112673048T>C			Somatic				HECTD4_ENST00000430131.2_Silent_p.P1494P|HECTD4_ENST00000377560.5_Silent_p.P1744P	p.P1770P	NM_001109662.3	NP_001103132.3	WXS	Illumina GAIIx	Phase_I					37	5705	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.5310A>G																																																																																					0.423	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		12	19	0	0	0	1	0	12	19					C	112673048	T	C	112673048	2	2	48	1	0	0	0	0	0	0	0	1	1698	1799	63	4		4	C12orf51	12	112673048	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	896851	112673048	21178847	3100	7568										
PTPN11	5781	broad.mit.edu	37	chr12	112893786	112893786	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actcgtataaatgctgctgaAatagaaagcagagttcgaga	10	6	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:112893786A>C	ENST00000351677.2	+	6	873	c.675A>C	c.(673-675)gaA>gaC	p.E225D	PTPN11_ENST00000392597.1_Missense_Mutation_p.E225D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	225					abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ATGCTGCTGAAATAGAAAGCA	0.348			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"protein tyrosine phosphatase, non-receptor type 11"	yes	Noonan Syndrome	L			"JMML, AML, MDS"		0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						c.(673-675)gaA>gaC		protein tyrosine phosphatase, non-receptor type 11							59	55	56					12																	112893786		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112893786A>C	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.675A>C	12.37:g.112893786A>C	ENSP00000340944:p.Glu225Asp		Somatic				PTPN11_ENST00000392597.1_Missense_Mutation_p.E225D	p.E225D	NM_002834.3	NP_002825.3	WXS	Illumina GAIIx	Phase_I	Q06124	PTN11_HUMAN			6	873	+			225					A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.675A>C	CCDS9163.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.973|4.973	0.180694|0.180694	0.09443|0.09443	.|.	.|.	ENSG00000179295|ENSG00000179295	ENST00000392597;ENST00000351677|ENST00000530818	D;D|.	0.99277|.	-5.67;-5.67|.	5.03|5.03	1.38|1.38	0.22167|0.22167	.|.	0.094721|.	0.64402|.	D|.	0.000001|.	T|T	0.13372|0.13372	0.0324|0.0324	N|N	0.00926|0.00926	-1.1|-1.1	0.48288|0.48288	D|D	0.999623|0.999623	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.002;0.002|.	T|T	0.05971|0.05971	-1.0853|-1.0853	10|5	0.02654|.	T|.	1|.	.|.	3.5432|3.5432	0.07819|0.07819	0.3074:0.0:0.4728:0.2198|0.3074:0.0:0.4728:0.2198	.|.	225;225|.	Q06124-2;Q06124-3|.	.;.|.	D|T	225|70	ENSP00000376376:E225D;ENSP00000340944:E225D|.	ENSP00000340944:E225D|.	E|K	+|+	3|2	2|0	PTPN11|PTPN11	111378169|111378169	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	1.314000|1.314000	0.33597|0.33597	0.284000|0.284000	0.22305|0.22305	0.374000|0.374000	0.22700|0.22700	GAA|AAA		0.348	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			19	26	0	0	0	1	0	19	26					C	112893786	A	C	112893786	3	2	48	1	0	0	0	0	1	0	0	0	12793	11	1	4	697	4	PTPN11	12	112893786	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	220738	112893786	20958109	3101	7569										
OAS2	4939	broad.mit.edu	37	chr12	113436156	113436156	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggctgaaaaaagaagctcaaAcctggttgacttctcccaac	8	11	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:113436156A>G	ENST00000342315.4	+	5	1163	c.949A>G	c.(949-951)Acc>Gcc	p.T317A	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.T317A	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	317	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGAAGCTCAAACCTGGTTGAC	0.433																																					Pancreas(199;709 2232 18410 33584 35052)	ENST00000392583.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(949-951)Acc>Gcc		2'-5'-oligoadenylate synthetase 2, 69/71kDa							142	132	135					12																	113436156		2203	4300	6503	SO:0001583	missense	0				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113436156A>G	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.949A>G	12.37:g.113436156A>G	ENSP00000342278:p.Thr317Ala		Somatic				OAS2_ENST00000342315.4_Missense_Mutation_p.T317A|RP1-71H24.1_ENST00000552784.1_RNA	p.T317A	NM_002535.2	NP_002526.2	WXS	Illumina GAIIx	Phase_I	P29728	OAS2_HUMAN			5	1156	+			317			OAS domain 1.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.949A>G	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	A	0.113	-1.136078	0.01742	.	.	ENSG00000111335	ENST00000342315;ENST00000392583;ENST00000552756	T;T;T	0.39787	1.06;1.06;1.06	3.82	-7.29	0.01451	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	4.958410	0.01296	N	0.010163	T	0.14399	0.0348	N	0.04148	-0.265	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.31280	-0.9949	10	0.02654	T	1	-24.8946	4.1128	0.10067	0.1636:0.1376:0.5621:0.1367	.	317;317	P29728;P29728-2	OAS2_HUMAN;.	A	317;317;242	ENSP00000342278:T317A;ENSP00000376362:T317A;ENSP00000446977:T242A	ENSP00000342278:T317A	T	+	1	0	OAS2	111920539	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.536000	0.00940	-1.091000	0.03065	0.377000	0.23210	ACC		0.433	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			32	74	0	0	0	1	0	32	74					G	113436156	A	G	113436156	3	3	48	1	0	0	0	0	1	0	0	0	10809	43	2	4	1038	4	OAS2	12	113436156	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	542370	113436156	20415739	3102	7570										
DDX54	79039	broad.mit.edu	37	chr12	113599158	113599158	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtccgagtcacgatcatcaAttttctgtttctgtttccac	6	12	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:113599158A>C	ENST00000306014.5	-	19	2357	c.2330T>G	c.(2329-2331)aTt>aGt	p.I777S	DDX54_ENST00000314045.7_Missense_Mutation_p.I777S|DDX54_ENST00000549271.1_5'UTR	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	777					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACGATCATCAATTTTCTGTTT	0.587																																						ENST00000314045.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2329-2331)aTt>aGt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							211	166	181					12																	113599158		2203	4300	6503	SO:0001583	missense	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113599158A>C	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2330T>G	12.37:g.113599158A>C	ENSP00000304072:p.Ile777Ser		Somatic				DDX54_ENST00000306014.5_Missense_Mutation_p.I777S|DDX54_ENST00000549271.1_5'UTR	p.I777S	NM_001111322.1	NP_001104792.1	WXS	Illumina GAIIx	Phase_I	Q8TDD1	DDX54_HUMAN			19	2357	-			777					Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	c.2330T>G	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.158470	0.57368	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.11385	2.8;2.78	4.44	4.44	0.53790	DBP10CT (1);	0.330400	0.28515	N	0.015063	T	0.17492	0.0420	L	0.59436	1.845	0.80722	D	1	P;P	0.51057	0.906;0.941	P;P	0.48454	0.578;0.477	T	0.00899	-1.1522	10	0.66056	D	0.02	.	11.684	0.51474	1.0:0.0:0.0:0.0	.	777;777	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	S	777	ENSP00000323858:I777S;ENSP00000304072:I777S	ENSP00000304072:I777S	I	-	2	0	DDX54	112083541	1.000000	0.71417	0.958000	0.39756	0.793000	0.44817	6.127000	0.71642	1.659000	0.50751	0.260000	0.18958	ATT		0.587	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		24	27	0	0	0	1	0	24	27					C	113599158	A	C	113599158	3	2	48	1	0	0	0	0	1	0	0	0	4374	101	4	4	326	4	DDX54	12	113599158	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	163002	113599158	20252737	3103	7571										
RBM19	9904	broad.mit.edu	37	chr12	114364909	114364909	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attgagattcttaataaacaGagtacatcctgggaggctct	9	7	2	2	rs549666074		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:114364909G>A	ENST00000545145.2	-	17	2272	c.2194C>T	c.(2194-2196)Ctg>Ttg	p.L732L	RBM19_ENST00000392561.3_Silent_p.L732L|RBM19_ENST00000261741.5_Silent_p.L732L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	732	RRM 5. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TTAATAAACAGAGTACATCCT	0.483													G|||	1	0.000199681	8e-04	0	5008	,	,		17861	0		0	False		,,,				2504	0					ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(2194-2196)Ctg>Ttg		RNA binding motif protein 19							103	93	96					12																	114364909		2203	4300	6503	SO:0001819	synonymous_variant	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114364909G>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2194C>T	12.37:g.114364909G>A			Somatic				RBM19_ENST00000392561.3_Silent_p.L732L|RBM19_ENST00000261741.5_Silent_p.L732L	p.L732L	NM_001146699.1	NP_001140171.1	WXS	Illumina GAIIx	Phase_I	Q9Y4C8	RBM19_HUMAN			17	2272	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		732			RRM 5.		A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	c.2194C>T	CCDS9172.1																																																																																				0.483	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		15	26	0	0	0	1	0	15	26					A	114364909	G	A	114364909	2	1	48	1	0	0	0	0	0	0	0	1	13136	933	33	3		3	RBM19	12	114364909	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	765751	114364909	19486986	3104	7572										
TBX5	6910	broad.mit.edu	37	chr12	114803995	114803995	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcttggtacaatggtaaatTtggctatgctcctggggcag	12	8	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:114803995T>G	ENST00000310346.4	-	8	1623	c.957A>C	c.(955-957)caA>caC	p.Q319H	TBX5_ENST00000526441.1_Missense_Mutation_p.Q319H|TBX5_ENST00000405440.2_Missense_Mutation_p.Q319H|TBX5_ENST00000349716.5_Missense_Mutation_p.Q269H	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	319					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		AATGGTAAATTTGGCTATGCT	0.532																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(955-957)caA>caC		T-box 5							108	102	104					12																	114803995		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114803995T>G	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.957A>C	12.37:g.114803995T>G	ENSP00000309913:p.Gln319His		Somatic				TBX5_ENST00000349716.5_Missense_Mutation_p.Q269H|TBX5_ENST00000526441.1_Missense_Mutation_p.Q319H|TBX5_ENST00000405440.2_Missense_Mutation_p.Q319H	p.Q319H	NM_000192.3	NP_000183.2	WXS	Illumina GAIIx	Phase_I	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	8	1623	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		319					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.957A>C	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185398	0.57909	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.88201	-2.31;-2.35;-2.35;-2.3	5.62	-11.2	0.00127	.	0.125321	0.56097	D	0.000039	D	0.88492	0.6451	M	0.66939	2.045	0.26278	N	0.978324	P;P	0.50443	0.935;0.906	P;P	0.55824	0.785;0.459	D	0.87407	0.2373	10	0.39692	T	0.17	.	15.3292	0.74193	0.0:0.5965:0.2389:0.1646	.	319;319	Q99593-2;Q99593	.;TBX5_HUMAN	H	269;319;216;319;319	ENSP00000337723:Q269H;ENSP00000309913:Q319H;ENSP00000384152:Q319H;ENSP00000433292:Q319H	ENSP00000309913:Q319H	Q	-	3	2	TBX5	113288378	0.000000	0.05858	0.051000	0.19133	0.929000	0.56500	-1.790000	0.01759	-2.475000	0.00527	-1.151000	0.01829	CAA		0.532	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		7	65	0	0	0	1	0	7	65					G	114803995	T	G	114803995	3	3	48	1	0	0	0	0	1	0	0	0	15676	1838	64	4	674	4	TBX5	12	114803995	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	439086	114803995	19047900	3105	7573										
TBX5	6910	broad.mit.edu	37	chr12	114832641	114832641	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagccaaatccattattttCatccgctttcacgatgtgta	6	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:114832641C>A	ENST00000310346.4	-	6	1234	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	TBX5_ENST00000526441.1_Nonsense_Mutation_p.E190*|TBX5_ENST00000405440.2_Nonsense_Mutation_p.E190*|TBX5_ENST00000552726.1_5'Flank|TBX5_ENST00000349716.5_Nonsense_Mutation_p.E140*	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	190					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCATTATTTTCATCCGCTTTC	0.358																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	GRCh37	CM004661	TBX5	M		c.(568-570)Gaa>Taa		T-box 5							217	220	219					12																	114832641		2203	4300	6503	SO:0001587	stop_gained	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.chr12:114832641C>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.568G>T	12.37:g.114832641C>A	ENSP00000309913:p.Glu190*		Somatic				TBX5_ENST00000349716.5_Nonsense_Mutation_p.E140*|TBX5_ENST00000526441.1_Nonsense_Mutation_p.E190*|TBX5_ENST00000405440.2_Nonsense_Mutation_p.E190*	p.E190*	NM_000192.3	NP_000183.2	WXS	Illumina GAIIx	Phase_I	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	6	1234	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		190					A6ND77|O15301|Q96TB0|Q9Y4I2	Nonsense_Mutation	SNP	ENST00000310346.4	37	c.568G>T	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	41	8.829143	0.98970	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.8996	0.96980	0.0:1.0:0.0:0.0	.	.	.	.	X	140;190;87;190;190	.	ENSP00000309913:E190X	E	-	1	0	TBX5	113317024	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	7.445000	0.80570	2.878000	0.98634	0.650000	0.86243	GAA		0.358	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		76	135	1	0	1.75807e-36	1	2.52894e-36	76	135					A	114832641	C	A	114832641	4	1	48	1	0	0	0	0	0	1	0	0	15676	835	29	2	1071	2	TBX5	12	114832641	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	28646	114832641	19019254	3106	7574										
MED13L	23389	broad.mit.edu	37	chr12	116408498	116408498	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgtgtgtacaagaagcatCttgaggggtgttgagctgag	16	4	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:116408498C>A	ENST00000281928.3	-	27	6174	c.5968G>T	c.(5968-5970)Gat>Tat	p.D1990Y		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1990						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)		CAAGAAGCATCTTGAGGGGTG	0.453																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(5968-5970)Gat>Tat		mediator complex subunit 13-like							183	150	161					12																	116408498		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116408498C>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.5968G>T	12.37:g.116408498C>A	ENSP00000281928:p.Asp1990Tyr		Somatic					p.D1990Y	NM_015335.4	NP_056150.1	WXS	Illumina GAIIx	Phase_I	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	27	6174	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1990					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.5968G>T	CCDS9177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.149061|5.149061	0.94645|0.94645	.|.	.|.	ENSG00000123066|ENSG00000123066	ENST00000281928|ENST00000552447	D|.	0.83755|.	-1.76|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83543|0.83543	0.5277|0.5277	M|M	0.86178|0.86178	2.8|2.8	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.84168|0.84168	0.0432|0.0432	10|5	0.87932|.	D|.	0|.	.|.	19.6941|19.6941	0.96016|0.96016	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1990|.	Q71F56|.	MD13L_HUMAN|.	Y|I	1990|194	ENSP00000281928:D1990Y|.	ENSP00000281928:D1990Y|.	D|R	-|-	1|2	0|0	MED13L|MED13L	114892881|114892881	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.320000|7.320000	0.79064|0.79064	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.453	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			27	37	1	0	1.03073e-24	1	1.44895e-24	27	37					A	116408498	C	A	116408498	3	1	48	1	0	0	0	0	1	0	0	0	9440	913	32	2	684	2	MED13L	12	116408498	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1575857	116408498	17443397	3107	7575										
MED13L	23389	broad.mit.edu	37	chr12	116446641	116446641	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggcacggccatttgcttaTcatatttcctactgctagac	7	11	1	1	rs569740837		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:116446641T>G	ENST00000281928.3	-	10	1783	c.1577A>C	c.(1576-1578)gAt>gCt	p.D526A		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	526						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)		CATTTGCTTATCATATTTCCT	0.468																																						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.(1576-1578)gAt>gCt		mediator complex subunit 13-like							137	121	127					12																	116446641		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116446641T>G	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.1577A>C	12.37:g.116446641T>G	ENSP00000281928:p.Asp526Ala		Somatic					p.D526A	NM_015335.4	NP_056150.1	WXS	Illumina GAIIx	Phase_I	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	10	1783	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		526					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.1577A>C	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.412624	0.42817	.	.	ENSG00000123066	ENST00000281928	T	0.74315	-0.83	5.76	5.76	0.90799	.	0.524271	0.21892	N	0.067565	T	0.65831	0.2729	L	0.38175	1.15	0.34488	D	0.704639	B	0.20261	0.043	B	0.19946	0.027	T	0.67154	-0.5742	10	0.16896	T	0.51	.	16.0796	0.80995	0.0:0.0:0.0:1.0	.	526	Q71F56	MD13L_HUMAN	A	526	ENSP00000281928:D526A	ENSP00000281928:D526A	D	-	2	0	MED13L	114931024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.498000	0.60373	2.206000	0.71126	0.533000	0.62120	GAT		0.468	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			21	25	0	0	0	1	0	21	25					G	116446641	T	G	116446641	3	3	48	1	0	0	0	0	1	0	0	0	9440	1435	50	4	5143	4	MED13L	12	116446641	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	38143	116446641	17405254	3108	7576										
MED13L	23389	broad.mit.edu	37	chr12	116534522	116534522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtagggtcggacaaaccatTtcccaatcctaacgaagttc	8	12	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:116534522T>C	ENST00000281928.3	-	4	637	c.431A>G	c.(430-432)aAa>aGa	p.K144R		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	144						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)		GACAAACCATTTCCCAATCCT	0.388																																						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.(430-432)aAa>aGa		mediator complex subunit 13-like							136	120	126					12																	116534522		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116534522T>C	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.431A>G	12.37:g.116534522T>C	ENSP00000281928:p.Lys144Arg		Somatic					p.K144R	NM_015335.4	NP_056150.1	WXS	Illumina GAIIx	Phase_I	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	4	637	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		144					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.431A>G	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695593	0.68386	.	.	ENSG00000123066	ENST00000281928	T	0.77098	-1.07	5.42	5.42	0.78866	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.85682	D	0.000000	D	0.83977	0.5371	L	0.49455	1.56	0.49483	D	0.999798	D	0.69078	0.997	D	0.77004	0.989	T	0.82707	-0.0324	10	0.33940	T	0.23	.	14.4436	0.67336	0.0:0.0:0.0:1.0	.	144	Q71F56	MD13L_HUMAN	R	144	ENSP00000281928:K144R	ENSP00000281928:K144R	K	-	2	0	MED13L	115018905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.862000	0.69560	2.061000	0.61500	0.533000	0.62120	AAA		0.388	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			19	18	0	0	0	1	0	19	18					C	116534522	T	C	116534522	3	2	48	1	0	0	0	0	1	0	0	0	9440	1841	64	4	6313	4	MED13L	12	116534522	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	87881	116534522	17317373	3109	7577										
RFC5	5985	broad.mit.edu	37	chr12	118467596	118467596	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgactttccatcttcagttCgaatacatttattgaccaaa	4	9	2	2	rs141299152		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:118467596C>T	ENST00000454402.2	+	10	1010	c.892C>T	c.(892-894)Cga>Tga	p.R298*	RFC5_ENST00000229043.3_Nonsense_Mutation_p.R213*|RFC5_ENST00000392542.2_Nonsense_Mutation_p.R277*|RFC5_ENST00000543153.1_3'UTR	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	298					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCTTCAGTTCGAATACATTT	0.363																																						ENST00000392542.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9						c.(829-831)Cga>Tga		replication factor C (activator 1) 5, 36.5kDa							256	232	240					12																	118467596		2203	4300	6503	SO:0001587	stop_gained	5985				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding	g.chr12:118467596C>T		CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"ATPases / AAA-type"	9973	protein-coding gene	gene with protein product		600407	"replication factor C (activator 1) 5 (36.5kD)"			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.892C>T	12.37:g.118467596C>T	ENSP00000408295:p.Arg298*		Somatic				RFC5_ENST00000229043.3_Nonsense_Mutation_p.R213*|RFC5_ENST00000543153.1_3'UTR|RFC5_ENST00000454402.2_Nonsense_Mutation_p.R298*	p.R277*	NM_181578.3	NP_853556.2	WXS	Illumina GAIIx	Phase_I	P40937	RFC5_HUMAN			11	1362	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		298					A8MZ62|B3KSX8	Nonsense_Mutation	SNP	ENST00000454402.2	37	c.829C>T	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	C	41	8.723367	0.98929	.	.	ENSG00000111445	ENST00000229043;ENST00000454402;ENST00000392542	.	.	.	4.97	3.13	0.36017	.	0.089768	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-3.6726	8.9798	0.35957	0.1487:0.7726:0.0:0.0787	.	.	.	.	X	213;298;277	.	ENSP00000229043:R213X	R	+	1	2	RFC5	116951979	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.202000	0.58446	0.788000	0.33755	-0.181000	0.13052	CGA		0.363	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		35	55	0	0	0	1	0	35	55					T	118467596	C	T	118467596	4	4	48	1	0	0	0	0	0	1	0	0	13263	876	31	1	936	1	RFC5	12	118467596	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1933074	118467596	15384299	3110	7578										
WSB2	55884	broad.mit.edu	37	chr12	118474182	118474182	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgccggtgtaggggtcccacAtaatcacattggtatcgtaa	11	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:118474182A>C	ENST00000315436.3	-	6	935	c.794T>G	c.(793-795)aTg>aGg	p.M265R	WSB2_ENST00000535496.1_Missense_Mutation_p.M267R|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000441406.2_Missense_Mutation_p.M282R|WSB2_ENST00000542304.1_Missense_Mutation_p.M40R|WSB2_ENST00000544233.1_Missense_Mutation_p.M55R	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	265					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)					GGGGTCCCACATAATCACATT	0.532																																						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.(793-795)aTg>aGg		WD repeat and SOCS box containing 2							154	143	147					12																	118474182		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118474182A>C	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"WD repeat domain containing"	19222	protein-coding gene	gene with protein product			"WD repeat and SOCS box-containing 2"			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.794T>G	12.37:g.118474182A>C	ENSP00000319474:p.Met265Arg		Somatic				WSB2_ENST00000544233.1_Missense_Mutation_p.M55R|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_Missense_Mutation_p.M40R|WSB2_ENST00000441406.2_Missense_Mutation_p.M282R|WSB2_ENST00000535496.1_Missense_Mutation_p.M267R	p.M265R	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	WXS	Illumina GAIIx	Phase_I	Q9NYS7	WSB2_HUMAN			6	935	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		265					B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	c.794T>G	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.939492	0.73557	.	.	ENSG00000176871	ENST00000315436;ENST00000542304;ENST00000441406;ENST00000544233;ENST00000535496	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.083978	0.85682	D	0.000000	T	0.50188	0.1601	L	0.45285	1.41	0.58432	D	0.999997	P	0.37176	0.586	B	0.32724	0.151	T	0.56697	-0.7936	10	0.87932	D	0	-23.9134	15.5638	0.76273	1.0:0.0:0.0:0.0	.	265	Q9NYS7	WSB2_HUMAN	R	265;40;282;55;267	ENSP00000319474:M265R;ENSP00000445941:M40R;ENSP00000409131:M282R;ENSP00000444431:M55R;ENSP00000439450:M267R	ENSP00000319474:M265R	M	-	2	0	WSB2	116958565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.292000	0.96076	2.153000	0.67306	0.533000	0.62120	ATG		0.532	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		54	114	0	0	0	1	0	54	114					C	118474182	A	C	118474182	3	2	48	1	0	0	0	0	1	0	0	0	17420	217	8	4	436	4	WSB2	12	118474182	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	6586	118474182	15377713	3111	7579										
TAOK3	51347	broad.mit.edu	37	chr12	118675943	118675943	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctccatgagtaatggcagcGatctccacttcctgaagtgg	11	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:118675943G>A	ENST00000392533.3	-	7	862	c.372C>T	c.(370-372)atC>atT	p.I124I	TAOK3_ENST00000419821.2_Silent_p.I124I	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	124	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAATGGCAGCGATCTCCACTT	0.363																																						ENST00000392533.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(370-372)atC>atT		TAO kinase 3							142	127	132					12																	118675943		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:118675943G>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.372C>T	12.37:g.118675943G>A			Somatic				TAOK3_ENST00000419821.2_Silent_p.I124I	p.I124I	NM_016281.3	NP_057365.3	WXS	Illumina GAIIx	Phase_I	Q9H2K8	TAOK3_HUMAN			7	862	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		124			Protein kinase.		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	ENST00000392533.3	37	c.372C>T	CCDS9188.1																																																																																				0.363	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		23	55	0	0	0	1	0	23	55					A	118675943	G	A	118675943	2	1	48	1	0	0	0	0	0	0	0	1	15564	1048	37	1		1	TAOK3	12	118675943	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	201761	118675943	15175952	3112	7580										
SRRM4	84530	broad.mit.edu	37	chr12	119583269	119583269	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgaggacgttcccaggagtaCgactcaggaaatgacacgtc	12	11	1	1	rs201517536		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:119583269C>T	ENST00000267260.4	+	9	1243	c.855C>T	c.(853-855)taC>taT	p.Y285Y		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	285	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						CCCAGGAGTACGACTCAGGAA	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		14485	0		0	False		,,,				2504	0					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.(853-855)taC>taT		serine/arginine repetitive matrix 4							32	36	35					12																	119583269		2004	4161	6165	SO:0001819	synonymous_variant	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119583269C>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.855C>T	12.37:g.119583269C>T			Somatic					p.Y285Y	NM_194286.3	NP_919262.2	WXS	Illumina GAIIx	Phase_I	A7MD48	SRRM4_HUMAN			9	1243	+			285			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	c.855C>T	CCDS44994.1																																																																																				0.607	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		10	9	0	0	0	1	0	10	9					T	119583269	C	T	119583269	2	4	48	1	0	0	0	0	0	0	0	1	15186	547	19	1		1	SRRM4	12	119583269	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	907326	119583269	14268626	3113	7581										
SRRM4	84530	broad.mit.edu	37	chr12	119588844	119588844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatttcagtcaccgtgtctgGaatgtgccgaagtgaagaag	13	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:119588844G>A	ENST00000267260.4	+	10	1487	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	367	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						ACCGTGTCTGGAATGTGCCGA	0.557																																						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.(1099-1101)Gaa>Aaa		serine/arginine repetitive matrix 4							66	71	70					12																	119588844		1985	4164	6149	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119588844G>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.1099G>A	12.37:g.119588844G>A	ENSP00000267260:p.Glu367Lys		Somatic					p.E367K	NM_194286.3	NP_919262.2	WXS	Illumina GAIIx	Phase_I	A7MD48	SRRM4_HUMAN			10	1487	+			367			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.1099G>A	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610957	0.66558	.	.	ENSG00000139767	ENST00000267260	T	0.22539	1.95	5.49	4.58	0.56647	.	0.369797	0.28114	N	0.016551	T	0.15955	0.0384	L	0.36672	1.1	0.23975	N	0.996297	B	0.26809	0.16	B	0.25291	0.059	T	0.17048	-1.0382	9	.	.	.	-9.7587	9.9976	0.41909	0.0758:0.1429:0.7813:0.0	.	367	A7MD48	SRRM4_HUMAN	K	367	ENSP00000267260:E367K	.	E	+	1	0	SRRM4	118073227	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	2.015000	0.40961	1.394000	0.46624	0.655000	0.94253	GAA		0.557	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		12	20	0	0	0	1	0	12	20					A	119588844	G	A	119588844	3	1	48	1	0	0	0	0	1	0	0	0	15186	1175	41	3	1137	3	SRRM4	12	119588844	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5575	119588844	14263051	3114	7582										
CIT	11113	broad.mit.edu	37	chr12	120195211	120195211	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccagttccagcagccgattCttgtcactgtggtcttggtg	11	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:120195211C>A	ENST00000261833.7	-	21	2596	c.2544G>T	c.(2542-2544)aaG>aaT	p.K848N	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.K890N	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	848					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)		GCAGCCGATTCTTGTCACTGT	0.547																																						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.(2668-2670)aaG>aaT		citron (rho-interacting, serine/threonine kinase 21)							267	258	261					12																	120195211		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.chr12:120195211C>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.2544G>T	12.37:g.120195211C>A	ENSP00000261833:p.Lys848Asn		Somatic				CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.K848N	p.K890N	NM_001206999.1	NP_001193928.1	WXS	Illumina GAIIx	Phase_I	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	22	2725	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	848					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.2670G>T	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.33|19.33	3.807555|3.807555	0.70797|0.70797	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.68181|.	-0.16;-0.31|.	5.54|5.54	3.7|3.7	0.42460|0.42460	.|.	0.064498|.	0.64402|.	D|.	0.000003|.	T|T	0.42494|0.42494	0.1205|0.1205	N|N	0.24115|0.24115	0.695|0.695	0.52501|0.52501	D|D	0.999959|0.999959	D;P;P|.	0.53619|.	0.961;0.952;0.728|.	P;P;P|.	0.49637|.	0.617;0.521;0.447|.	T|T	0.20371|0.20371	-1.0277|-1.0277	10|5	0.54805|.	T|.	0.06|.	.|.	9.7579|9.7579	0.40515|0.40515	0.0:0.7862:0.0:0.2138|0.0:0.7862:0.0:0.2138	.|.	890;848;381|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	N|I	890;848|476	ENSP00000376306:K890N;ENSP00000261833:K848N|.	ENSP00000261833:K848N|.	K|R	-|-	3|2	2|0	CIT|CIT	118679594|118679594	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.848000|1.848000	0.39309|0.39309	1.345000|1.345000	0.45676|0.45676	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.547	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		6	374	1	0	0.0215528	1	0.0219788	6	374					A	120195211	C	A	120195211	3	1	48	1	0	0	0	0	1	0	0	0	3440	912	32	2	3647	2	CIT	12	120195211	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	606367	120195211	13656684	3115	7583										
CIT	11113	broad.mit.edu	37	chr12	120295449	120295449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acctacaagacttctgacttCgaagtcctttgccgaaggct	8	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:120295449C>T	ENST00000261833.7	-	4	344	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	CIT_ENST00000392521.2_Missense_Mutation_p.E98K	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	98	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)		CTTCTGACTTCGAAGTCCTTT	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.(292-294)Gaa>Aaa		citron (rho-interacting, serine/threonine kinase 21)							176	176	176					12																	120295449		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.chr12:120295449C>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.292G>A	12.37:g.120295449C>T	ENSP00000261833:p.Glu98Lys		Somatic				CIT_ENST00000261833.7_Missense_Mutation_p.E98K	p.E98K	NM_001206999.1	NP_001193928.1	WXS	Illumina GAIIx	Phase_I	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	4	347	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	98			Protein kinase.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.292G>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341549	0.81911	.	.	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000536325	T;T;T	0.65916	-0.18;-0.18;-0.18	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.070138	0.53938	D	0.000047	T	0.56046	0.1959	L	0.35793	1.09	0.80722	D	1	B;B	0.25486	0.127;0.011	B;B	0.17098	0.013;0.017	T	0.55592	-0.8117	10	0.72032	D	0.01	.	19.5331	0.95237	0.0:1.0:0.0:0.0	.	98;98	Q2M5E1;O14578	.;CTRO_HUMAN	K	98;98;15	ENSP00000376306:E98K;ENSP00000261833:E98K;ENSP00000443199:E15K	ENSP00000261833:E98K	E	-	1	0	CIT	118779832	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.559000	0.82265	2.687000	0.91594	0.591000	0.81541	GAA		0.458	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		47	107	0	0	0	1	0	47	107					T	120295449	C	T	120295449	3	4	48	1	0	0	0	0	1	0	0	0	3440	893	31	1	5967	1	CIT	12	120295449	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	100238	120295449	13556446	3116	7584										
PLA2G1B	5319	broad.mit.edu	37	chr12	120762808	120762808	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acgggttgtccagcagaaatTtacagctgtccagcttcttg	10	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:120762808T>G	ENST00000308366.4	-	3	286	c.251A>C	c.(250-252)aAa>aCa	p.K84T	PLA2G1B_ENST00000423423.3_Intron|PLA2G1B_ENST00000549767.1_Missense_Mutation_p.K55T	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	84					actin filament organization (GO:0007015)|activation of MAPK activity (GO:0000187)|activation of phospholipase A2 activity (GO:0032431)|antibacterial humoral response (GO:0019731)|arachidonic acid secretion (GO:0050482)|cellular response to insulin stimulus (GO:0032869)|defense response to Gram-positive bacterium (GO:0050830)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response in mucosa (GO:0002227)|interleukin-8 production (GO:0032637)|intracellular signal transduction (GO:0035556)|leukotriene biosynthetic process (GO:0019370)|multicellular organismal lipid catabolic process (GO:0044240)|neutrophil chemotaxis (GO:0030593)|neutrophil mediated immunity (GO:0002446)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine metabolic process (GO:0046470)|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 calcium ion transport into cytosol (GO:0010524)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of immune response (GO:0050778)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	bile acid binding (GO:0032052)|calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				Niflumic Acid(DB04552)|Sulfasalazine(DB00795)	CAGCAGAAATTTACAGCTGTC	0.512											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(64;1781 1795 22266 42732)|Esophageal Squamous(30;459 829 25326 35148)	ENST00000308366.4																			0				endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(250-252)aAa>aCa		phospholipase A2, group IB (pancreas)							213	164	181					12																	120762808		2203	4300	6503	SO:0001583	missense	5319				actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding	g.chr12:120762808T>G		CCDS9195.1	12q24.31	2013-09-19			ENSG00000170890	ENSG00000170890	3.1.1.4		9030	protein-coding gene	gene with protein product		172410		PLA2, PPLA2, PLA2A		8175726	Standard	NM_000928		Approved		uc001tyd.3	P04054	OTTHUMG00000169343	ENST00000308366.4:c.251A>C	12.37:g.120762808T>G	ENSP00000312286:p.Lys84Thr		Somatic	OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1506	PLA2G1B_ENST00000423423.3_Intron|PLA2G1B_ENST00000549767.1_Missense_Mutation_p.K55T	p.K84T	NM_000928.2	NP_000919.1	WXS	Illumina GAIIx	Phase_I	P04054	PA21B_HUMAN			3	286	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		84					B2R4H5|Q3KPI1	Missense_Mutation	SNP	ENST00000308366.4	37	c.251A>C	CCDS9195.1	.	.	.	.	.	.	.	.	.	.	T	8.733	0.917191	0.17982	.	.	ENSG00000170890	ENST00000308366;ENST00000549767	T;T	0.28454	1.61;1.64	5.04	-7.37	0.01412	Phospholipase A2 (3);	1.091960	0.06642	N	0.761227	T	0.17874	0.0429	L	0.41492	1.28	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.24657	-1.0154	10	0.16896	T	0.51	0.018	4.8897	0.13721	0.0945:0.122:0.4575:0.326	.	84	P04054	PA21B_HUMAN	T	84;55	ENSP00000312286:K84T;ENSP00000447233:K55T	ENSP00000312286:K84T	K	-	2	0	PLA2G1B	119247191	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.529000	0.06186	-1.772000	0.01292	0.459000	0.35465	AAA		0.512	PLA2G1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403626.1			43	58	0	0	0	1	0	43	58					G	120762808	T	G	120762808	3	3	48	1	0	0	0	0	1	0	0	0	12003	1841	64	4	203	4	PLA2G1B	12	120762808	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	467359	120762808	13089087	3117	7585										
UNC119B	84747	broad.mit.edu	37	chr12	121151136	121151136	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atttcacccgcttcaaaattCgagatttggagacagggaca	9	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:121151136C>T	ENST00000344651.4	+	2	344	c.304C>T	c.(304-306)Cga>Tga	p.R102*	UNC119B_ENST00000539658.1_3'UTR	NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	102					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)					CTTCAAAATTCGAGATTTGGA	0.403																																						ENST00000344651.4																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9						c.(304-306)Cga>Tga		unc-119 homolog B (C. elegans)							138	130	133					12																	121151136		2203	4300	6503	SO:0001587	stop_gained	84747							g.chr12:121151136C>T		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.304C>T	12.37:g.121151136C>T	ENSP00000344942:p.Arg102*		Somatic				UNC119B_ENST00000539658.1_3'UTR	p.R102*	NM_001080533.1	NP_001074002.1	WXS	Illumina GAIIx	Phase_I	A6NIH7	U119B_HUMAN			2	344	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		102						Nonsense_Mutation	SNP	ENST00000344651.4	37	c.304C>T	CCDS31914.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112278	0.94339	.	.	ENSG00000175970	ENST00000344651;ENST00000537794	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0769	13.9499	0.64111	0.1516:0.8484:0.0:0.0	.	.	.	.	X	102	.	ENSP00000344942:R102X	R	+	1	2	UNC119B	119635519	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.308000	0.33528	2.724000	0.93272	0.563000	0.77884	CGA		0.403	UNC119B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402857.1	NM_001080533		15	42	0	0	0	1	0	15	42					T	121151136	C	T	121151136	4	4	48	1	0	0	0	0	0	1	0	0	16998	876	31	1	310	1	UNC119B	12	121151136	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	388328	121151136	12700759	3118	7586										
WDR66	144406	broad.mit.edu	37	chr12	122361794	122361794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggacaagaaaggagagtatcCgacatccagtccaaagcagg	12	9	0	2	rs201116442	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:122361794C>T	ENST00000288912.4	+	3	1499	c.645C>T	c.(643-645)tcC>tcT	p.S215S	WDR66_ENST00000397454.2_Silent_p.S215S	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	215							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GGAGAGTATCCGACATCCAGT	0.517													C|||	3	0.000599042	0	0	5008	,	,		16555	0.001		0	False		,,,				2504	0.002				Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(643-645)tcC>tcT		WD repeat domain 66							102	100	101					12																	122361794		1908	4125	6033	SO:0001819	synonymous_variant	144406						calcium ion binding	g.chr12:122361794C>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.645C>T	12.37:g.122361794C>T			Somatic				WDR66_ENST00000397454.2_Silent_p.S215S	p.S215S	NM_144668.5	NP_653269.3	WXS	Illumina GAIIx	Phase_I	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	3	1499	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		215					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	c.645C>T	CCDS41853.1																																																																																				0.517	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		47	61	0	0	0	1	0	47	61					T	122361794	C	T	122361794	2	4	48	1	0	0	0	0	0	0	0	1	17332	639	23	1		1	WDR66	12	122361794	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1210658	122361794	11490101	3119	7587										
KNTC1	9735	broad.mit.edu	37	chr12	123067340	123067340	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcagcacattaaagctcacgAagttgcacaggcgaaacaca	9	11	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:123067340A>G	ENST00000333479.7	+	34	3248	c.3071A>G	c.(3070-3072)gAa>gGa	p.E1024G	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1024					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AAAGCTCACGAAGTTGCACAG	0.498																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(3070-3072)gAa>gGa		kinetochore associated 1							47	46	46					12																	123067340		1923	4133	6056	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123067340A>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.3071A>G	12.37:g.123067340A>G	ENSP00000328236:p.Glu1024Gly		Somatic				KNTC1_ENST00000450485.2_Intron	p.E1024G	NM_014708.4	NP_055523.1	WXS	Illumina GAIIx	Phase_I	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	34	3248	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1024					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.3071A>G	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.768619	0.31320	.	.	ENSG00000184445	ENST00000333479	T	0.16457	2.34	5.91	5.91	0.95273	.	0.051621	0.85682	D	0.000000	T	0.21062	0.0507	L	0.55481	1.735	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.01298	-1.1392	10	0.46703	T	0.11	-14.6165	16.3483	0.83171	1.0:0.0:0.0:0.0	.	1024	P50748	KNTC1_HUMAN	G	1024	ENSP00000328236:E1024G	ENSP00000328236:E1024G	E	+	2	0	KNTC1	121633293	1.000000	0.71417	0.011000	0.14972	0.009000	0.06853	6.099000	0.71466	2.254000	0.74563	0.533000	0.62120	GAA		0.498	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			11	17	0	0	0	1	0	11	17					G	123067340	A	G	123067340	3	3	48	1	0	0	0	0	1	0	0	0	8437	246	9	4	3201	4	KNTC1	12	123067340	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	705546	123067340	10784555	3120	7588										
KNTC1	9735	broad.mit.edu	37	chr12	123087284	123087284	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacagaacttctggaaaattCtctgtatgtgttcattaact	6	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:123087284C>A	ENST00000333479.7	+	46	4999	c.4822C>A	c.(4822-4824)Ctc>Atc	p.L1608I	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Missense_Mutation_p.L33I	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1608					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTGGAAAATTCTCTGTATGTG	0.358																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(4822-4824)Ctc>Atc		kinetochore associated 1							106	94	98					12																	123087284		1838	4083	5921	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123087284C>A		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4822C>A	12.37:g.123087284C>A	ENSP00000328236:p.Leu1608Ile		Somatic				KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Missense_Mutation_p.L33I|KNTC1_ENST00000436959.3_5'UTR	p.L1608I	NM_014708.4	NP_055523.1	WXS	Illumina GAIIx	Phase_I	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	46	4999	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1608					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.4822C>A	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	C	8.159	0.789208	0.16258	.	.	ENSG00000184445	ENST00000333479;ENST00000537348	T;T	0.36520	1.25;1.25	5.93	1.9	0.25705	RZZ complex, subunit KNTC1/ROD, C-terminal (1);	0.168879	0.46145	N	0.000310	T	0.13286	0.0322	N	0.10733	0.035	0.58432	D	0.999992	B	0.18310	0.027	B	0.22753	0.041	T	0.25916	-1.0118	10	0.02654	T	1	-3.1538	5.0677	0.14591	0.4905:0.2525:0.1924:0.0645	.	1608	P50748	KNTC1_HUMAN	I	1608;33	ENSP00000328236:L1608I;ENSP00000443622:L33I	ENSP00000328236:L1608I	L	+	1	0	KNTC1	121653237	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	1.434000	0.34958	0.068000	0.16574	0.655000	0.94253	CTC		0.358	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			11	28	1	0	3.86212e-05	1	4.21111e-05	11	28					A	123087284	C	A	123087284	3	1	48	1	0	0	0	0	1	0	0	0	8437	913	32	2	5000	2	KNTC1	12	123087284	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	19944	123087284	10764611	3121	7589										
DDX55	57696	broad.mit.edu	37	chr12	124102387	124102387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctcctgcccatggaagagTcatacatcaatttccttgca	6	13	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124102387T>C	ENST00000238146.4	+	11	1182	c.1132T>C	c.(1132-1134)Tca>Cca	p.S378P	SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000421670.3_5'Flank|DDX55_ENST00000538744.1_Missense_Mutation_p.S347P|DDX55_ENST00000541259.1_Intron	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	378	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CATGGAAGAGTCATACATCAA	0.532											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000238146.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(1132-1134)Tca>Cca		DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							107	98	101					12																	124102387		2203	4300	6503	SO:0001583	missense	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124102387T>C	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"DEAD-boxes"	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1132T>C	12.37:g.124102387T>C	ENSP00000238146:p.Ser378Pro		Somatic	OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Missense_Mutation_p.S347P	p.S378P	NM_020936.1	NP_065987.1	WXS	Illumina GAIIx	Phase_I	Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	11	1182	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		378			Helicase C-terminal.		Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	ENST00000238146.4	37	c.1132T>C	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.047280	0.75846	.	.	ENSG00000111364	ENST00000238146;ENST00000538744	T;D	0.93547	3.54;-3.24	5.98	2.13	0.27403	Helicase, C-terminal (1);	0.218986	0.49305	D	0.000152	D	0.91392	0.7284	N	0.17872	0.535	0.80722	D	1	B;B;P	0.47034	0.001;0.0;0.889	B;B;P	0.54238	0.005;0.002;0.746	D	0.89559	0.3805	10	0.49607	T	0.09	-29.2701	14.6288	0.68640	0.0:0.0:0.4818:0.5182	.	378;378;347	B4DVE4;Q8NHQ9;F5H5U2	.;DDX55_HUMAN;.	P	378;347	ENSP00000238146:S378P;ENSP00000443114:S347P	ENSP00000238146:S378P	S	+	1	0	DDX55	122668340	1.000000	0.71417	0.915000	0.36163	0.993000	0.82548	1.187000	0.32090	0.109000	0.17891	0.533000	0.62120	TCA		0.532	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			6	60	0	0	0	1	0	6	60					C	124102387	T	C	124102387	3	2	48	1	0	0	0	0	1	0	0	0	4375	1667	58	4	1174	4	DDX55	12	124102387	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1015103	124102387	9749508	3122	7590										
DDX55	57696	broad.mit.edu	37	chr12	124104541	124104541	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgaagatgaggacatggaaGaacttcttaatgacacaaga	10	5	1	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124104541G>T	ENST00000238146.4	+	14	1707	c.1657G>T	c.(1657-1659)Gaa>Taa	p.E553*	DDX55_ENST00000421670.3_Nonsense_Mutation_p.E160*|DDX55_ENST00000538744.1_Nonsense_Mutation_p.E522*	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	553	Lys-rich.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GGACATGGAAGAACTTCTTAA	0.343																																						ENST00000238146.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(1657-1659)Gaa>Taa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							94	100	98					12																	124104541		2203	4300	6503	SO:0001587	stop_gained	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124104541G>T	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"DEAD-boxes"	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1657G>T	12.37:g.124104541G>T	ENSP00000238146:p.Glu553*		Somatic				DDX55_ENST00000538744.1_Nonsense_Mutation_p.E522*|DDX55_ENST00000421670.3_Nonsense_Mutation_p.E160*	p.E553*	NM_020936.1	NP_065987.1	WXS	Illumina GAIIx	Phase_I	Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	14	1707	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		553			Lys-rich.		Q658L6|Q8IYH0|Q9HCH7	Nonsense_Mutation	SNP	ENST00000238146.4	37	c.1657G>T	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	G	37	6.029569	0.97216	.	.	ENSG00000111364	ENST00000238146;ENST00000538744;ENST00000421670	.	.	.	5.6	5.6	0.85130	.	0.551333	0.21164	N	0.079110	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-32.9666	19.6081	0.95588	0.0:0.0:1.0:0.0	.	.	.	.	X	553;522;160	.	ENSP00000238146:E553X	E	+	1	0	DDX55	122670494	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.917000	0.92751	2.628000	0.89032	0.549000	0.68633	GAA		0.343	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			25	40	1	0	1.64293e-13	1	2.10822e-13	25	40					T	124104541	G	T	124104541	4	4	48	1	0	0	0	0	0	1	0	0	4375	943	33	2	1711	2	DDX55	12	124104541	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2154	124104541	9747354	3123	7591										
DNAH10	196385	broad.mit.edu	37	chr12	124326058	124326058	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctaatagactaattaccaaaGaggctatttttagatactgt	6	6	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124326058G>T	ENST00000409039.3	+	29	4997	c.4972G>T	c.(4972-4974)Gag>Tag	p.E1658*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1658	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)		AATTACCAAAGAGGCTATTTT	0.418																																						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.(4972-4974)Gag>Tag		dynein, axonemal, heavy chain 10							73	77	76					12																	124326058		1926	4125	6051	SO:0001587	stop_gained	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124326058G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4972G>T	12.37:g.124326058G>T	ENSP00000386770:p.Glu1658*		Somatic					p.E1658*	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)	29	4997	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1658			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	ENST00000409039.3	37	c.4972G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	37	6.066584	0.97251	.	.	ENSG00000197653	ENST00000409039	.	.	.	5.42	5.42	0.78866	.	0.071288	0.53938	U	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	19.2259	0.93817	0.0:0.0:1.0:0.0	.	.	.	.	X	1658	.	ENSP00000386770:E1658X	E	+	1	0	DNAH10	122892011	1.000000	0.71417	0.998000	0.56505	0.790000	0.44656	7.821000	0.86641	2.563000	0.86464	0.561000	0.74099	GAG		0.418	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			21	46	1	0	1.28384e-07	1	1.48174e-07	21	46					T	124326058	G	T	124326058	4	4	48	1	0	0	0	0	0	1	0	0	4600	943	33	2	5086	2	DNAH10	12	124326058	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	221517	124326058	9525837	3124	7592										
DNAH10	196385	broad.mit.edu	37	chr12	124371784	124371784	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgggattgagaacaaagcGatgatctttctgttcacgga	11	7	3	2	rs533242201		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124371784G>A	ENST00000409039.3	+	51	8590	c.8565G>A	c.(8563-8565)gcG>gcA	p.A2855A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2855	AAA 4. {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)		AGAACAAAGCGATGATCTTTC	0.542													G|||	1	0.000199681	8e-04	0	5008	,	,		19796	0		0	False		,,,				2504	0					ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(8563-8565)gcG>gcA		dynein, axonemal, heavy chain 10							63	65	65					12																	124371784		1972	4160	6132	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124371784G>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.8565G>A	12.37:g.124371784G>A			Somatic					p.A2855A	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)	51	8590	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2855			AAA 4 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.8565G>A	CCDS9255.2																																																																																				0.542	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			8	26	0	0	0	1	0	8	26					A	124371784	G	A	124371784	2	1	48	1	0	0	0	0	0	0	0	1	4600	1045	37	1		1	DNAH10	12	124371784	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	45726	124371784	9480111	3125	7593										
NCOR2	9612	broad.mit.edu	37	chr12	124831140	124831140	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagccctccttgagcggccgCggggccaggggcagctcggg	19	14	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124831140C>T	ENST00000405201.1	-	31	4329	c.4329G>A	c.(4327-4329)ccG>ccA	p.P1443P	NCOR2_ENST00000404621.1_Silent_p.P1433P|NCOR2_ENST00000429285.2_Silent_p.P1433P|NCOR2_ENST00000356219.3_Silent_p.P1450P|NCOR2_ENST00000404121.2_Silent_p.P1004P|NCOR2_ENST00000397355.1_Silent_p.P1434P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1451					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGAGCGGCCGCGGGGCCAGGG	0.726																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4348-4350)ccG>ccA		nuclear receptor corepressor 2							8	10	9					12																	124831140		1818	3883	5701	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124831140C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4329G>A	12.37:g.124831140C>T			Somatic				NCOR2_ENST00000429285.2_Silent_p.P1433P|NCOR2_ENST00000397355.1_Silent_p.P1434P|NCOR2_ENST00000404121.2_Silent_p.P1004P|NCOR2_ENST00000404621.1_Silent_p.P1433P|NCOR2_ENST00000405201.1_Silent_p.P1443P	p.P1450P	NM_006312.5	NP_006303.4	WXS	Illumina GAIIx	Phase_I	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	32	4505	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1451					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.4350G>A	CCDS41858.2																																																																																				0.726	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		6	9	0	0	0	1	0	6	9					T	124831140	C	T	124831140	2	4	48	1	0	0	0	0	0	0	0	1	10245	755	27	1		1	NCOR2	12	124831140	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	459356	124831140	9020755	3126	7594										
TMEM132D	121256	broad.mit.edu	37	chr12	129558971	129558971	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaagcatacatcccaatttCtaagtcgctcagccctttgg	6	13	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:129558971C>A	ENST00000422113.2	-	9	3075	c.2749G>T	c.(2749-2751)Gaa>Taa	p.E917*	TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.E455*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	917					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)		ATCCCAATTTCTAAGTCGCTC	0.478																																						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.(2749-2751)Gaa>Taa		transmembrane protein 132D							131	114	120					12																	129558971		2203	4300	6503	SO:0001587	stop_gained	121256					integral to membrane		g.chr12:129558971C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2749G>T	12.37:g.129558971C>A	ENSP00000408581:p.Glu917*		Somatic				TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.E455*	p.E917*	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	3075	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	917					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Nonsense_Mutation	SNP	ENST00000422113.2	37	c.2749G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	40	8.182811	0.98693	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	.	.	.	4.21	4.21	0.49690	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.9016	16.905	0.86124	0.0:1.0:0.0:0.0	.	.	.	.	X	455;917	.	.	E	-	1	0	TMEM132D	128124924	1.000000	0.71417	0.299000	0.25016	0.232000	0.25224	5.735000	0.68587	2.038000	0.60285	0.467000	0.42956	GAA		0.478	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		41	63	1	0	2.2871e-25	1	3.22072e-25	41	63					A	129558971	C	A	129558971	4	1	48	1	0	0	0	0	0	1	0	0	16062	922	32	2	554	2	TMEM132D	12	129558971	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4727831	129558971	4292924	3127	7595										
PIWIL1	9271	broad.mit.edu	37	chr12	130847640	130847640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaaaacactggtgaactacGaagtgccacagtttttggat	10	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:130847640G>A	ENST00000245255.3	+	18	2418	c.2146G>A	c.(2146-2148)Gaa>Aaa	p.E716K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	716	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)		GGTGAACTACGAAGTGCCACA	0.443																																						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.(2146-2148)Gaa>Aaa		piwi-like RNA-mediated gene silencing 1							111	110	110					12																	130847640		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.chr12:130847640G>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.2146G>A	12.37:g.130847640G>A	ENSP00000245255:p.Glu716Lys		Somatic					p.E716K	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)	18	2418	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		716			Piwi.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.2146G>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978635	0.74360	.	.	ENSG00000125207	ENST00000245255	T	0.56444	0.46	5.49	5.49	0.81192	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	D	0.84110	0.5400	H	0.98996	4.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.968;0.975	D	0.90690	0.4612	10	0.87932	D	0	-14.1815	18.3615	0.90376	0.0:0.0:1.0:0.0	.	716;716	Q96J94;Q96J94-2	PIWL1_HUMAN;.	K	716	ENSP00000245255:E716K	ENSP00000245255:E716K	E	+	1	0	PIWIL1	129413593	1.000000	0.71417	0.950000	0.38849	0.008000	0.06430	9.440000	0.97547	2.578000	0.87016	0.467000	0.42956	GAA		0.443	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			29	50	0	0	0	1	0	29	50					A	130847640	G	A	130847640	3	1	48	1	0	0	0	0	1	0	0	0	11966	1059	37	1	2212	1	PIWIL1	12	130847640	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1288669	130847640	3004255	3128	7596										
GPR133	283383	broad.mit.edu	37	chr12	131456095	131456095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaggtacaacagctcctgcAtcagcaagccagagcagtgt	11	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:131456095A>G	ENST00000261654.5	+	4	839	c.280A>G	c.(280-282)Atc>Gtc	p.I94V	GPR133_ENST00000535015.1_Missense_Mutation_p.I126V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	94					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)		CAGCTCCTGCATCAGCAAGCC	0.507																																						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.(280-282)Atc>Gtc		G protein-coupled receptor 133							74	60	65					12																	131456095		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131456095A>G	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.280A>G	12.37:g.131456095A>G	ENSP00000261654:p.Ile94Val		Somatic				GPR133_ENST00000535015.1_Missense_Mutation_p.I126V	p.I94V	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)	4	839	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		94					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.280A>G	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.609518	0.28623	.	.	ENSG00000111452	ENST00000261654;ENST00000542091;ENST00000535015	T;T;T	0.57436	0.68;0.4;0.69	4.73	-2.88	0.05682	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.433089	0.23395	N	0.048660	T	0.48750	0.1517	L	0.52573	1.65	0.80722	D	1	P;P	0.45396	0.857;0.726	P;P	0.48738	0.588;0.506	T	0.49041	-0.8980	10	0.87932	D	0	.	9.1375	0.36883	0.3315:0.5886:0.0799:0.0	.	126;94	B7ZLF7;Q6QNK2	.;GP133_HUMAN	V	94;94;126	ENSP00000261654:I94V;ENSP00000442501:I94V;ENSP00000444425:I126V	ENSP00000261654:I94V	I	+	1	0	GPR133	130022048	1.000000	0.71417	0.051000	0.19133	0.012000	0.07955	3.978000	0.56881	-0.874000	0.04027	-0.313000	0.08912	ATC		0.507	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		12	26	0	0	0	1	0	12	26					G	131456095	A	G	131456095	3	3	48	1	0	0	0	0	1	0	0	0	6651	217	8	4	294	4	GPR133	12	131456095	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	608455	131456095	2395800	3129	7597										
EP400	57634	broad.mit.edu	37	chr12	132479477	132479477	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcgttgtggaccaccaaacaGaactttctaatttagccaag	8	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:132479477G>T	ENST00000333577.4	+	13	3020	c.2911G>T	c.(2911-2913)Gaa>Taa	p.E971*	EP400_ENST00000330386.6_Nonsense_Mutation_p.E935*|EP400_ENST00000332482.4_Nonsense_Mutation_p.E898*|EP400_ENST00000389561.2_Nonsense_Mutation_p.E935*|EP400_ENST00000389562.2_Nonsense_Mutation_p.E934*			Q96L91	EP400_HUMAN	E1A binding protein p400	971	Interactions with RUVBL1 and RUVBL2.				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)		CCACCAAACAGAACTTTCTAA	0.373																																						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.(2911-2913)Gaa>Taa		E1A binding protein p400							173	152	159					12																	132479477		2203	4300	6503	SO:0001587	stop_gained	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.chr12:132479477G>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.2911G>T	12.37:g.132479477G>T	ENSP00000333602:p.Glu971*		Somatic				EP400_ENST00000330386.6_Nonsense_Mutation_p.E935*|EP400_ENST00000389561.2_Nonsense_Mutation_p.E935*|EP400_ENST00000389562.2_Nonsense_Mutation_p.E934*|EP400_ENST00000332482.4_Nonsense_Mutation_p.E898*	p.E971*			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)	13	3020	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	971			Interactions with RUVBL1 and RUVBL2.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Nonsense_Mutation	SNP	ENST00000333577.4	37	c.2911G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.049818	0.97236	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6396	0.91390	0.0:0.0:1.0:0.0	.	.	.	.	X	971;935;934;898;935;971;935;935	.	ENSP00000330620:E935X	E	+	1	0	EP400	131045430	1.000000	0.71417	0.366000	0.25914	0.075000	0.17131	9.636000	0.98440	2.415000	0.81967	0.650000	0.86243	GAA		0.373	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		17	73	1	0	3.52763e-06	1	3.92945e-06	17	73					T	132479477	G	T	132479477	4	4	48	1	0	0	0	0	0	1	0	0	5151	943	33	2	2842	2	EP400	12	132479477	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1023382	132479477	1372418	3130	7598										
GALNT9	50614	broad.mit.edu	37	chr12	132688051	132688051	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggcctgtgggggactcaccGacatggggatgttccaggcc	16	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:132688051G>A	ENST00000328957.8	-	7	1261	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	GALNT9_ENST00000541995.1_Splice_Site_p.S55L|GALNT9_ENST00000535228.1_Splice_Site_p.S172L|GALNT9_ENST00000397325.2_Splice_Site_p.S55L	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	421					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.S421L(1)|p.S55L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GGGACTCACCGACATGGGGAT	0.682																																					Colon(186;2147 2752 13553 41466)	ENST00000328957.8																			2	Substitution - Missense(2)	p.S421L(1)|p.S55L(1)	lung(2)	breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.e7+1		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)							43	46	45					12																	132688051		2073	4199	6272	SO:0001630	splice_region_variant	50614				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:132688051G>A	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4131	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 9"	606251	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1263+1C>T	12.37:g.132688051G>A			Somatic				GALNT9_ENST00000535228.1_Splice_Site_p.S172_splice|GALNT9_ENST00000541995.1_Splice_Site_p.S55_splice|GALNT9_ENST00000397325.2_Splice_Site_p.S55_splice	p.S421_splice	NM_001122636.1	NP_001116108.1	WXS	Illumina GAIIx	Phase_I	Q9HCQ5	GALT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)	7	1261	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	421					Q52LR8|Q6NT54|Q8NFR1	Splice_Site	SNP	ENST00000328957.8	37	c.1263_splice		.	.	.	.	.	.	.	.	.	.	g	12.27	1.887299	0.33348	.	.	ENSG00000182870	ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995;ENST00000538356	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	3.87	2.97	0.34412	.	0.220504	0.45126	D	0.000382	T	0.47728	0.1461	N	0.12182	0.205	0.21719	N	0.999571	B;B;B	0.20887	0.049;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.30268	-0.9984	10	0.30854	T	0.27	.	8.4984	0.33144	0.0883:0.1557:0.756:0.0	.	172;421;278	B3KNR7;Q9HCQ5;B3KP58	.;GALT9_HUMAN;.	L	55;421;172;55;55	ENSP00000380488:S55L;ENSP00000329846:S421L;ENSP00000439745:S172L;ENSP00000440544:S55L;ENSP00000444709:S55L	ENSP00000329846:S421L	S	-	2	0	GALNT9	131254004	0.998000	0.40836	0.565000	0.28409	0.375000	0.29983	2.717000	0.47227	0.714000	0.32081	0.448000	0.29417	TCG		0.682	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636	Missense_Mutation	21	26	0	0	0	1	0	21	26					A	132688051	G	A	132688051	5	1	48	1	0	0	0	0	0	0	1	0	6228	1072	37	1	569	1	GALNT9	12	132688051	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	208574	132688051	1163844	3131	7599										
POLE	5426	broad.mit.edu	37	chr12	133253184	133253184	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctggtctgtctcagcatcaGgaaacttgaggggcagtttg	13	8	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:133253184G>C	ENST00000320574.5	-	9	900	c.857C>G	c.(856-858)cCt>cGt	p.P286R	POLE_ENST00000535270.1_Missense_Mutation_p.P259R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	286			P -> H (found in a colorectal sample; somatic mutation). {ECO:0000269|PubMed:23263490}.		base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.P286H(1)		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)	CTCAGCATCAGGAAACTTGAG	0.493								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			1	Substitution - Missense(1)	p.P286H(1)	large_intestine(1)	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.(856-858)cCt>cGt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							115	99	104					12																	133253184		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.chr12:133253184G>C		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.857C>G	12.37:g.133253184G>C	ENSP00000322570:p.Pro286Arg		Somatic				POLE_ENST00000535270.1_Missense_Mutation_p.P259R	p.P286R	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)	9	900	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	286					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.857C>G	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974541	0.92919	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.49	5.49	0.81192	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.77598	0.4154	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83192	-0.0083	10	0.87932	D	0	.	19.3785	0.94521	0.0:0.0:1.0:0.0	.	259;286	F5H1D6;Q07864	.;DPOE1_HUMAN	R	286;297;259;66;221	ENSP00000322570:P286R;ENSP00000406383:P297R;ENSP00000445753:P259R;ENSP00000442519:P66R	ENSP00000322570:P286R	P	-	2	0	POLE	131763257	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.762000	0.98944	2.566000	0.86566	0.561000	0.74099	CCT		0.493	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		13	29	0	0	0	1	0	13	29					C	133253184	G	C	133253184	3	2	48	1	0	0	0	0	1	0	0	0	12205	1000	35	5	6167	5	POLE	12	133253184	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	565133	133253184	598711	3132	7600										
ZNF10	7556	broad.mit.edu	37	chr12	133727724	133727724	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgatgctggagaactataaGaacctggtttccttgggtaa	12	6	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:133727724G>T	ENST00000248211.6	+	3	366	c.144G>T	c.(142-144)aaG>aaT	p.K48N	ZNF10_ENST00000426665.2_Missense_Mutation_p.K48N|ZNF10_ENST00000402932.2_Missense_Mutation_p.K48N|ZNF268_ENST00000416488.1_Missense_Mutation_p.K48N|CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.K48N|ZNF10_ENST00000540927.1_3'UTR	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	48	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AGAACTATAAGAACCTGGTTT	0.453																																						ENST00000248211.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26						c.(142-144)aaG>aaT		zinc finger protein 10							184	174	177					12																	133727724		2203	4300	6503	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133727724G>T	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"Zinc fingers, C2H2-type", "-"	12879	protein-coding gene	gene with protein product		194538	"zinc finger protein 10 (KOX 1)"			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.144G>T	12.37:g.133727724G>T	ENSP00000248211:p.Lys48Asn		Somatic				CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.K48N|ZNF10_ENST00000426665.2_Missense_Mutation_p.K48N|ZNF268_ENST00000416488.1_Missense_Mutation_p.K48N|ZNF10_ENST00000540927.1_3'UTR|ZNF10_ENST00000402932.2_Missense_Mutation_p.K48N	p.K48N	NM_015394.4	NP_056209.2	WXS	Illumina GAIIx	Phase_I	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	3	366	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	48			KRAB.		B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.144G>T	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600773	0.13939	.	.	ENSG00000256223;ENSG00000256223;ENSG00000256223;ENSG00000256223;ENSG00000256223;ENSG00000090612	ENST00000248211;ENST00000536877;ENST00000426665;ENST00000402932;ENST00000537119;ENST00000416488	T;T;T;T;T;T	0.01854	4.6;4.6;4.6;4.6;5.69;4.6	3.43	1.51	0.23008	Krueppel-associated box (4);	0.485974	0.15377	N	0.265506	T	0.01523	0.0049	N	0.20610	0.595	0.09310	N	0.999999	B	0.31413	0.322	B	0.28139	0.086	T	0.50329	-0.8841	9	.	.	.	.	6.289	0.21049	0.3524:0.0:0.6476:0.0	.	48	P21506	ZNF10_HUMAN	N	48;48;48;48;6;48	ENSP00000248211:K48N;ENSP00000441339:K48N;ENSP00000393814:K48N;ENSP00000384893:K48N;ENSP00000437397:K6N;ENSP00000409295:K48N	.	K	+	3	2	ZNF10;ZNF268	132237797	0.006000	0.16342	0.534000	0.28014	0.019000	0.09904	0.749000	0.26320	0.245000	0.21373	-0.251000	0.11542	AAG		0.453	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		17	40	1	0	3.32936e-07	1	3.80431e-07	17	40					T	133727724	G	T	133727724	3	4	48	1	0	0	0	0	1	0	0	0	17727	933	33	2	150	2	ZNF10	12	133727724	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	474540	133727724	124171	3133	7601										
TUBA3C	7278	broad.mit.edu	37	chr13	19751395	19751395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattcagggccccgtcaaatCgcagggaggccgtgatggag	15	11	2	1	rs201024969		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:19751395C>T	ENST00000400113.3	-	4	832	c.728G>A	c.(727-729)cGa>cAa	p.R243Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	243					'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.R243Q(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)		CCCGTCAAATCGCAGGGAGGC	0.597																																						ENST00000400113.3																			1	Substitution - Missense(1)	p.R243Q(1)	large_intestine(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.(727-729)cGa>cAa		tubulin, alpha 3c		C	GLN/ARG	0,4406		0,0,2203	157	137	144		728	-1	0.7	13		144	1,8599	1.2+/-3.3	0,1,4299	no	missense	TUBA3C	NM_006001.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	243/451	19751395	1,13005	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.chr13:19751395C>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.728G>A	13.37:g.19751395C>T	ENSP00000382982:p.Arg243Gln		Somatic					p.R243Q	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)	4	832	-		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)	243					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.728G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	8.711	0.911976	0.17907	0.0	1.16E-4	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.74209	-0.82	1.19	-1.02	0.10135	.	0.000000	0.45606	U	0.000346	T	0.68284	0.2984	.	.	.	0.30264	N	0.792877	.	.	.	.	.	.	T	0.65236	-0.6217	7	0.72032	D	0.01	.	3.9351	0.09302	0.0:0.568:0.2469:0.1851	.	.	.	.	Q	243	ENSP00000382982:R243Q	ENSP00000354037:R243Q	R	-	2	0	TUBA3C	18649395	0.027000	0.19231	0.729000	0.30791	0.094000	0.18550	2.853000	0.48317	-0.368000	0.08040	0.175000	0.17021	CGA		0.597	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		74	125	0	0	0	1	0	74	125					T	19751395	C	T	19751395	3	4	48	1	0	0	0	0	1	0	0	0	16761	884	31	1	632	1	TUBA3C	13	19751395	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08		19751395	95418483	3134	7602										
TUBA3C	7278	broad.mit.edu	37	chr13	19752459	19752459	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatggcctctggcgtaattaTtggccgcatcttccttcccg	9	13	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:19752459T>G	ENST00000400113.3	-	3	406	c.302A>C	c.(301-303)aAt>aCt	p.N101T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	101					'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)		GGCGTAATTATTGGCCGCATC	0.527																																						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.(301-303)aAt>aCt		tubulin, alpha 3c							206	173	184					13																	19752459		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.chr13:19752459T>G	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.302A>C	13.37:g.19752459T>G	ENSP00000382982:p.Asn101Thr		Somatic					p.N101T	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)	3	406	-		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)	101					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.302A>C	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	t	13.90	2.375869	0.42105	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.75704	-0.96	1.53	1.53	0.23141	.	0.000000	0.49916	U	0.000137	T	0.76513	0.3998	.	.	.	0.42043	D	0.991089	.	.	.	.	.	.	T	0.76639	-0.2885	7	0.87932	D	0	.	7.129	0.25488	0.0:0.0:0.0:1.0	.	.	.	.	T	101	ENSP00000382982:N101T	ENSP00000354037:N101T	N	-	2	0	TUBA3C	18650459	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	4.855000	0.62925	0.958000	0.37956	0.347000	0.21830	AAT		0.527	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		15	116	0	0	0	1	0	15	116					G	19752459	T	G	19752459	3	3	48	1	0	0	0	0	1	0	0	0	16761	1493	52	4	1062	4	TUBA3C	13	19752459	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1064	19752459	95417419	3135	7603										
TUBA3C	7278	broad.mit.edu	37	chr13	19753677	19753677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgatctggactcctgcctgCcccacgtggatagagataca	10	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:19753677C>T	ENST00000400113.3	-	2	134	c.30G>A	c.(28-30)ggG>ggA	p.G10G	RP11-408E5.4_ENST00000382988.2_5'Flank	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	10					'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.G10G(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)		CTCCTGCCTGCCCCACGTGGA	0.463																																						ENST00000400113.3																			1	Substitution - coding silent(1)	p.G10G(1)	large_intestine(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.(28-30)ggG>ggA		tubulin, alpha 3c							129	111	117					13																	19753677		2203	4300	6503	SO:0001819	synonymous_variant	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19753677C>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.30G>A	13.37:g.19753677C>T			Somatic					p.G10G	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)	2	134	-		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)	10					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	c.30G>A	CCDS9284.1																																																																																				0.463	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		27	51	0	0	0	1	0	27	51					T	19753677	C	T	19753677	2	4	48	1	0	0	0	0	0	0	0	1	16761	726	26	3		3	TUBA3C	13	19753677	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1218	19753677	95416201	3136	7604										
SGCG	6445	broad.mit.edu	37	chr13	23853608	23853608	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggttggtacagataaacttCgagtaactggtatgtactaa	10	5	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23853608C>T	ENST00000218867.3	+	5	620	c.496C>T	c.(496-498)Cga>Tga	p.R166*	SGCG_ENST00000537476.1_Nonsense_Mutation_p.R166*|SGCG_ENST00000545013.1_Nonsense_Mutation_p.R166*	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	166					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		AGATAAACTTCGAGTAACTGG	0.388																																						ENST00000218867.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(496-498)Cga>Tga		sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)							103	89	94					13																	23853608		2203	4300	6503	SO:0001587	stop_gained	6445				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr13:23853608C>T	U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"Maghrebian myopathy (autosomal recessive)", "35kD dystrophin-associated glycoprotein", "limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)", "gamma sarcoglycan"	608896	"sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.496C>T	13.37:g.23853608C>T	ENSP00000218867:p.Arg166*		Somatic				SGCG_ENST00000545013.1_Nonsense_Mutation_p.R166*|SGCG_ENST00000537476.1_Nonsense_Mutation_p.R166*	p.R166*	NM_000231.2	NP_000222.1	WXS	Illumina GAIIx	Phase_I	Q13326	SGCG_HUMAN		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)	5	620	+		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)	166					Q32M32|Q5T9J6	Nonsense_Mutation	SNP	ENST00000218867.3	37	c.496C>T	CCDS9299.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432701	0.62844	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	.	.	.	5.37	3.65	0.41850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2366	8.276	0.31873	0.2781:0.6508:0.0:0.071	.	.	.	.	X	166	.	ENSP00000218867:R166X	R	+	1	2	SGCG	22751608	1.000000	0.71417	0.997000	0.53966	0.022000	0.10575	2.540000	0.45727	0.664000	0.31047	-0.911000	0.02809	CGA		0.388	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231		12	17	0	0	0	1	0	12	17					T	23853608	C	T	23853608	4	4	48	1	0	0	0	0	0	1	0	0	14218	876	31	1	510	1	SGCG	13	23853608	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4099931	23853608	91316270	3137	7605										
SACS	26278	broad.mit.edu	37	chr13	23904369	23904369	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctcagaagtgaacctgtcaTttgggatctgaggaaaggga	13	7	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23904369T>G	ENST00000382292.3	-	9	13919	c.13646A>C	c.(13645-13647)aAt>aCt	p.N4549T	SACS_ENST00000402364.1_Missense_Mutation_p.N3799T|SACS_ENST00000382298.3_Missense_Mutation_p.N4549T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4549	HEPN. {ECO:0000255|PROSITE- ProRule:PRU00105}.		N -> D (in SACS). {ECO:0000269|PubMed:15156359}.		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)		GAACCTGTCATTTGGGATCTG	0.373																																						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.(13645-13647)aAt>aCt		spastic ataxia of Charlevoix-Saguenay (sacsin)							131	121	125					13																	23904369		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.chr13:23904369T>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.13646A>C	13.37:g.23904369T>G	ENSP00000371729:p.Asn4549Thr		Somatic				SACS_ENST00000402364.1_Missense_Mutation_p.N3799T|SACS_ENST00000382292.3_Missense_Mutation_p.N4549T	p.N4549T	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	14234	-		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)	4549		N -> D (in SACS).	HEPN.		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.13646A>C	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	24.1	4.488110	0.84854	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.85629	-2.01;-2.01;-2.01	5.85	5.85	0.93711	HEPN (3);	0.000000	0.85682	D	0.000000	D	0.89389	0.6701	L	0.39898	1.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.90172	0.4236	10	0.62326	D	0.03	.	16.2271	0.82306	0.0:0.0:0.0:1.0	.	4549	Q9NZJ4	SACS_HUMAN	T	4549;3799;4549	ENSP00000371729:N4549T;ENSP00000385844:N3799T;ENSP00000371735:N4549T	ENSP00000371729:N4549T	N	-	2	0	SACS	22802369	1.000000	0.71417	0.871000	0.34182	0.860000	0.49131	8.040000	0.89188	2.234000	0.73211	0.460000	0.39030	AAT		0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		22	49	0	0	0	1	0	22	49					G	23904369	T	G	23904369	3	3	48	1	0	0	0	0	1	0	0	0	13819	1493	52	4	97	4	SACS	13	23904369	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	50761	23904369	91265509	3138	7606										
SACS	26278	broad.mit.edu	37	chr13	23907353	23907353	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcattaggaataaacaatttTtcaggaagcataacttcaaa	5	6	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23907353T>A	ENST00000382292.3	-	9	10935	c.10662A>T	c.(10660-10662)gaA>gaT	p.E3554D	SACS_ENST00000402364.1_Missense_Mutation_p.E2804D|SACS_ENST00000382298.3_Missense_Mutation_p.E3554D			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3554					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)		TAAACAATTTTTCAGGAAGCA	0.303																																						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.(10660-10662)gaA>gaT		spastic ataxia of Charlevoix-Saguenay (sacsin)							31	33	33					13																	23907353		2191	4285	6476	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.chr13:23907353T>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.10662A>T	13.37:g.23907353T>A	ENSP00000371729:p.Glu3554Asp		Somatic				SACS_ENST00000402364.1_Missense_Mutation_p.E2804D|SACS_ENST00000382292.3_Missense_Mutation_p.E3554D	p.E3554D	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	11250	-		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)	3554					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.10662A>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	12.29	1.893951	0.33442	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88277	-2.21;-2.36;-2.21	6.04	3.67	0.42095	.	0.260180	0.39985	N	0.001219	T	0.78136	0.4236	N	0.24115	0.695	0.29982	N	0.817644	B	0.34015	0.435	B	0.27262	0.078	T	0.72381	-0.4311	10	0.30078	T	0.28	.	10.0099	0.41979	0.0:0.1347:0.0:0.8653	.	3554	Q9NZJ4	SACS_HUMAN	D	3554;2804;3554	ENSP00000371729:E3554D;ENSP00000385844:E2804D;ENSP00000371735:E3554D	ENSP00000371729:E3554D	E	-	3	2	SACS	22805353	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.473000	0.35387	1.116000	0.41820	0.459000	0.35465	GAA		0.303	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		8	7	0	0	0	1	0	8	7					A	23907353	T	A	23907353	3	1	48	1	0	0	0	0	1	0	0	0	13819	1838	64	4	3081	4	SACS	13	23907353	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2984	23907353	91262525	3139	7607										
SACS	26278	broad.mit.edu	37	chr13	23910423	23910423	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattaaggatgctcttaattCtgctggtcaatttttctttc	6	8	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23910423C>T	ENST00000382292.3	-	9	7865	c.7592G>A	c.(7591-7593)aGa>aAa	p.R2531K	SACS_ENST00000402364.1_Missense_Mutation_p.R1781K|SACS_ENST00000382298.3_Missense_Mutation_p.R2531K			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2531					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)		GCTCTTAATTCTGCTGGTCAA	0.393																																						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.(7591-7593)aGa>aAa		spastic ataxia of Charlevoix-Saguenay (sacsin)							110	108	109					13																	23910423		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.chr13:23910423C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7592G>A	13.37:g.23910423C>T	ENSP00000371729:p.Arg2531Lys		Somatic				SACS_ENST00000402364.1_Missense_Mutation_p.R1781K|SACS_ENST00000382292.3_Missense_Mutation_p.R2531K	p.R2531K	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	8180	-		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)	2531					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.7592G>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759377	0.89932	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.96554	-4.05;-4.05;-4.05	5.72	5.72	0.89469	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98052	0.9358	M	0.81112	2.525	0.51233	D	0.999916	D	0.76494	0.999	D	0.65573	0.936	D	0.98166	1.0449	10	0.56958	D	0.05	.	19.8766	0.96875	0.0:1.0:0.0:0.0	.	2531	Q9NZJ4	SACS_HUMAN	K	2531;1781;2531	ENSP00000371729:R2531K;ENSP00000385844:R1781K;ENSP00000371735:R2531K	ENSP00000371729:R2531K	R	-	2	0	SACS	22808423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	2.698000	0.92095	0.561000	0.74099	AGA		0.393	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		29	49	0	0	0	1	0	29	49					T	23910423	C	T	23910423	3	4	48	1	0	0	0	0	1	0	0	0	13819	913	32	3	6151	3	SACS	13	23910423	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3070	23910423	91259455	3140	7608										
SACS	26278	broad.mit.edu	37	chr13	23932558	23932558	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttcctgcttcttgctatttCttgaatgccgtgccagtcct	7	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23932558C>A	ENST00000382292.3	-	6	793	c.520G>T	c.(520-522)Gaa>Taa	p.E174*	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382298.3_Nonsense_Mutation_p.E174*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	174					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)		CTTGCTATTTCTTGAATGCCG	0.438																																						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.(520-522)Gaa>Taa		spastic ataxia of Charlevoix-Saguenay (sacsin)							161	156	158					13																	23932558		2203	4300	6503	SO:0001587	stop_gained	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.chr13:23932558C>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.520G>T	13.37:g.23932558C>A	ENSP00000371729:p.Glu174*		Somatic				SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Nonsense_Mutation_p.E174*	p.E174*	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)	7	1108	-		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)	174					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	c.520G>T	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.186014|8.186014	0.98696|0.98696	.|.	.|.	ENSG00000151835|ENSG00000151835	ENST00000382292;ENST00000382298|ENST00000455470	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76328	.|0.3972	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74917	.|-0.3501	.|3	0.11794|.	T|.	0.64|.	.|.	19.4157|19.4157	0.94697|0.94697	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	174|73	.|.	ENSP00000371729:E174X|.	E|R	-|-	1|2	0|0	SACS|SACS	22830558|22830558	1.000000|1.000000	0.71417|0.71417	0.891000|0.891000	0.34965|0.34965	0.981000|0.981000	0.71138|0.71138	7.785000|7.785000	0.85724|0.85724	2.589000|2.589000	0.87451|0.87451	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.438	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		47	73	1	0	2.14642e-42	1	3.10745e-42	47	73					A	23932558	C	A	23932558	4	1	48	1	0	0	0	0	0	1	0	0	13819	922	32	2	13235	2	SACS	13	23932558	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	22135	23932558	91237320	3141	7609										
ATP12A	479	broad.mit.edu	37	chr13	25280568	25280568	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcccggacatccccccagcaGaagctgatcattgtggaggg	13	13	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:25280568G>T	ENST00000381946.3	+	15	2303	c.2136G>T	c.(2134-2136)caG>caT	p.Q712H	RNY1P7_ENST00000384743.1_RNA|ATP12A_ENST00000218548.6_Missense_Mutation_p.Q718H			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	712					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.Q712H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CCCCCCAGCAGAAGCTGATCA	0.562																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			1	Substitution - Missense(1)	p.Q712H(1)	large_intestine(1)	breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(2152-2154)caG>caT		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						97	75	83					13																	25280568		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.chr13:25280568G>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.2136G>T	13.37:g.25280568G>T	ENSP00000371372:p.Gln712His		Somatic				ATP12A_ENST00000381946.3_Missense_Mutation_p.Q712H	p.Q718H	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)	15	2487	+		Lung SC(185;0.0225)|Breast(139;0.077)	712					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.2154G>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544556	0.65198	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.96232	-3.95;-3.95	5.79	3.0	0.34707	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000001	D	0.95968	0.8687	L	0.37630	1.12	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94717	0.7897	10	0.87932	D	0	.	7.8015	0.29176	0.3528:0.0:0.6472:0.0	.	718;712	P54707-2;P54707	.;AT12A_HUMAN	H	718;712	ENSP00000218548:Q718H;ENSP00000371372:Q712H	ENSP00000218548:Q718H	Q	+	3	2	ATP12A	24178568	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.214000	0.42853	0.723000	0.32274	0.563000	0.77884	CAG		0.562	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		14	36	1	0	1.49906e-05	1	1.64923e-05	14	36					T	25280568	G	T	25280568	3	4	48	1	0	0	0	0	1	0	0	0	1122	933	33	2	2212	2	ATP12A	13	25280568	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1348010	25280568	89889310	3142	7610										
RNF17	56163	broad.mit.edu	37	chr13	25378555	25378555	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ataaatagtcctggagatttCtatcttcagttggtaagtat	8	5	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:25378555C>A	ENST00000255324.5	+	15	2131	c.2079C>A	c.(2077-2079)ttC>ttA	p.F693L	RNF17_ENST00000381921.1_Missense_Mutation_p.F693L|RNF17_ENST00000255325.6_Intron	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	693					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)		CTGGAGATTTCTATCTTCAGT	0.274																																						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.(2077-2079)ttC>ttA		ring finger protein 17							62	61	62					13																	25378555		2199	4299	6498	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25378555C>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.2079C>A	13.37:g.25378555C>A	ENSP00000255324:p.Phe693Leu		Somatic				RNF17_ENST00000381921.1_Missense_Mutation_p.F693L|RNF17_ENST00000255325.5_Intron	p.F693L	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)	15	2131	+		Lung SC(185;0.0225)|Breast(139;0.077)	693					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2079C>A	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349054	0.61183	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.15834	2.39;2.39;2.39	5.25	3.13	0.36017	Maternal tudor protein (1);	0.062472	0.64402	D	0.000006	T	0.38480	0.1042	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.13710	-1.0499	10	0.46703	T	0.11	.	7.8196	0.29280	0.0:0.7287:0.0:0.2713	.	693;693	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	L	693;693;552;17	ENSP00000255324:F693L;ENSP00000371346:F693L;ENSP00000388892:F17L	ENSP00000255324:F693L	F	+	3	2	RNF17	24276555	0.995000	0.38212	1.000000	0.80357	0.947000	0.59692	0.201000	0.17276	1.181000	0.42912	0.591000	0.81541	TTC		0.274	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		3	12	1	0	0.004672	1	0.00483628	3	12					A	25378555	C	A	25378555	3	1	48	1	0	0	0	0	1	0	0	0	13476	912	32	2	2137	2	RNF17	13	25378555	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	97987	25378555	89791323	3143	7611										
CENPJ	55835	broad.mit.edu	37	chr13	25458144	25458144	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atctgggaaaatgctttcttCttgtccatcaggaaataagt	8	7	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:25458144C>A	ENST00000381884.4	-	16	3966	c.3781G>T	c.(3781-3783)Gaa>Taa	p.E1261*	CENPJ_ENST00000545981.1_3'UTR|CENPJ_ENST00000493190.1_5'Flank	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1261					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)		ATGCTTTCTTCTTGTCCATCA	0.373																																						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.(3781-3783)Gaa>Taa		centromere protein J							184	172	176					13																	25458144		2203	4300	6503	SO:0001587	stop_gained	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.chr13:25458144C>A	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3781G>T	13.37:g.25458144C>A	ENSP00000371308:p.Glu1261*		Somatic				CENPJ_ENST00000545981.1_3'UTR	p.E1261*	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)	16	3966	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1261					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Nonsense_Mutation	SNP	ENST00000381884.4	37	c.3781G>T	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	44	10.554878	0.99427	.	.	ENSG00000151849	ENST00000381884	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1152	0.93336	0.0:1.0:0.0:0.0	.	.	.	.	X	1261	.	ENSP00000371308:E1261X	E	-	1	0	CENPJ	24356144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.361000	0.59461	2.815000	0.96918	0.561000	0.74099	GAA		0.373	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		24	53	1	0	6.12954e-19	1	8.32119e-19	24	53					A	25458144	C	A	25458144	4	1	48	1	0	0	0	0	0	1	0	0	3236	922	32	2	243	2	CENPJ	13	25458144	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	79589	25458144	89711734	3144	7612										
CENPJ	55835	broad.mit.edu	37	chr13	25480675	25480675	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggacactcagttacattttCtttattattagatgtgactt	6	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:25480675C>A	ENST00000381884.4	-	7	1686	c.1501G>T	c.(1501-1503)Gaa>Taa	p.E501*	CENPJ_ENST00000545981.1_Nonsense_Mutation_p.E501*	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	501					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)		GTTACATTTTCTTTATTATTA	0.423																																						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.(1501-1503)Gaa>Taa		centromere protein J							73	76	75					13																	25480675		2203	4300	6503	SO:0001587	stop_gained	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.chr13:25480675C>A	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1501G>T	13.37:g.25480675C>A	ENSP00000371308:p.Glu501*		Somatic				CENPJ_ENST00000545981.1_Nonsense_Mutation_p.E501*	p.E501*	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)	7	1686	-		Lung SC(185;0.0225)|Breast(139;0.0602)	501					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Nonsense_Mutation	SNP	ENST00000381884.4	37	c.1501G>T	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	36	5.885338	0.97068	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	.	.	.	5.82	4.98	0.66077	.	0.197824	0.44285	D	0.000475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	13.6982	0.62593	0.0:0.9252:0.0:0.0748	.	.	.	.	X	501	.	ENSP00000371308:E501X	E	-	1	0	CENPJ	24378675	1.000000	0.71417	0.993000	0.49108	0.440000	0.31957	2.870000	0.48451	1.474000	0.48178	0.655000	0.94253	GAA		0.423	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		27	54	1	0	7.41945e-09	1	8.8016e-09	27	54					A	25480675	C	A	25480675	4	1	48	1	0	0	0	0	0	1	0	0	3236	922	32	2	2559	2	CENPJ	13	25480675	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	22531	25480675	89689203	3145	7613										
RASL11A	387496	broad.mit.edu	37	chr13	27847485	27847485	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtttcagcatctctgcaaaGaagtgagcaagatgcacggc	11	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:27847485G>T	ENST00000241463.4	+	4	1201	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	RASL11A_ENST00000480803.1_3'UTR	NM_206827.1	NP_996563.1			RAS-like, family 11, member A											breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		TCTCTGCAAAGAAGTGAGCAA	0.517																																						ENST00000241463.4																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10						c.(583-585)Gaa>Taa		RAS-like, family 11, member A							64	61	62					13																	27847485		2203	4300	6503	SO:0001587	stop_gained	387496				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity	g.chr13:27847485G>T	AY439004	CCDS9321.1	13q12.2	2014-05-09			ENSG00000122035	ENSG00000122035			23802	protein-coding gene	gene with protein product		612403				15033445	Standard	NM_206827		Approved		uc001urd.1	Q6T310	OTTHUMG00000016627	ENST00000241463.4:c.583G>T	13.37:g.27847485G>T	ENSP00000241463:p.Glu195*		Somatic				RASL11A_ENST00000480803.1_3'UTR	p.E195*	NM_206827.1	NP_996563.1	WXS	Illumina GAIIx	Phase_I	Q6T310	RSLBA_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)	4	1201	+		Lung SC(185;0.0161)	195			Small GTPase-like.			Nonsense_Mutation	SNP	ENST00000241463.4	37	c.583G>T	CCDS9321.1	.	.	.	.	.	.	.	.	.	.	G	40	8.248603	0.98724	.	.	ENSG00000122035	ENST00000241463	.	.	.	5.3	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.4304	0.75092	0.0:0.0:0.8598:0.1402	.	.	.	.	X	195	.	ENSP00000241463:E195X	E	+	1	0	RASL11A	26745485	1.000000	0.71417	0.999000	0.59377	0.750000	0.42670	7.280000	0.78610	1.329000	0.45376	0.655000	0.94253	GAA		0.517	RASL11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044265.2	NM_206827		22	37	1	0	2.37509e-13	1	3.04217e-13	22	37					T	27847485	G	T	27847485	4	4	48	1	0	0	0	0	0	1	0	0	13096	943	33	2	597	2	RASL11A	13	27847485	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2366810	27847485	87322393	3146	7614										
FLT3	2322	broad.mit.edu	37	chr13	28602426	28602426	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcagagctgtctgctttttCtgtcaaagaaaggagcatta	9	7	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:28602426C>A	ENST00000241453.7	-	16	2024		c.e16-1		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)	TCTGCTTTTTCTGTCAAAGAA	0.388			"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.e16-1		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						59	52	54					13																	28602426		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.chr13:28602426C>A	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.1943-1G>T	13.37:g.28602426C>A			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)	16	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	17.40	3.381257	0.61845	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4702	0.94961	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLT3	27500426	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.781000	0.68964	2.580000	0.87095	0.555000	0.69702	.		0.388	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		Intron	9	15	1	0	0.0477658	1	0.0484551	9	15					A	28602426	C	A	28602426	5	1	48	1	0	0	0	0	0	0	1	0	5950	927	32	2	1075	2	FLT3	13	28602426	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	754941	28602426	86567452	3147	7615										
PAN3	255967	broad.mit.edu	37	chr13	28862175	28862175	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaccgttatctgttgaaactCtttagggatcatctttttca	7	8	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:28862175C>A	ENST00000380958.3	+	18	2591	c.2439C>A	c.(2437-2439)ctC>ctA	p.L813L	PAN3_ENST00000399613.1_Silent_p.L613L|PAN3_ENST00000282391.5_Silent_p.L501L	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)		TGTTGAAACTCTTTAGGGATC	0.418																																						ENST00000399613.1																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1837-1839)ctC>ctA		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							123	116	118					13																	28862175		2203	4300	6503	SO:0001819	synonymous_variant	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28862175C>A	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.2439C>A	13.37:g.28862175C>A			Somatic				PAN3_ENST00000380958.3_Silent_p.L813L|PAN3_ENST00000282391.5_Silent_p.L501L	p.L613L			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)	17	1902	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	813			Interaction with PAN2.|Protein kinase.			Silent	SNP	ENST00000380958.3	37	c.1839C>A	CCDS9329.2																																																																																				0.418	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		11	24	1	0	5.50884e-06	1	6.10489e-06	11	24					A	28862175	C	A	28862175	2	1	48	1	0	0	0	0	0	0	0	1	11424	900	32	2		2	PAN3	13	28862175	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	259749	28862175	86307703	3148	7616										
POMP	51371	broad.mit.edu	37	chr13	29246494	29246494	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggttcagcgtcttccatttCtttcaagctcaaatctttca	5	11	7	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:29246494C>A	ENST00000380842.4	+	5	364	c.283C>A	c.(283-285)Ctt>Att	p.L95I	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	95					proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TCTTCCATTTCTTTCAAGCTC	0.353																																						ENST00000380842.4																			0				endometrium(2)|kidney(1)|large_intestine(1)	4						c.(283-285)Ctt>Att		proteasome maturation protein							162	158	159					13																	29246494		2203	4300	6503	SO:0001583	missense	51371				proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex		g.chr13:29246494C>A	AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"proteassemblin"	613386	"chromosome 13 open reading frame 12"	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.283C>A	13.37:g.29246494C>A	ENSP00000370222:p.Leu95Ile		Somatic				POMP_ENST00000460403.1_3'UTR	p.L95I	NM_015932.5	NP_057016.1	WXS	Illumina GAIIx	Phase_I	Q9Y244	POMP_HUMAN		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)	5	364	+		Lung SC(185;0.0367)	95					A5HKJ2|D6MXU3|Q9HB69	Missense_Mutation	SNP	ENST00000380842.4	37	c.283C>A	CCDS9331.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882393	0.51908	.	.	ENSG00000132963	ENST00000380842	.	.	.	5.14	4.3	0.51218	.	0.055832	0.64402	D	0.000002	T	0.63070	0.2480	M	0.73962	2.25	0.58432	D	0.999994	B	0.28258	0.205	B	0.31547	0.132	T	0.63985	-0.6513	9	0.42905	T	0.14	-18.1691	12.8484	0.57844	0.0:0.9202:0.0:0.0798	.	95	Q9Y244	POMP_HUMAN	I	95	.	ENSP00000370222:L95I	L	+	1	0	POMP	28144494	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	2.337000	0.43947	1.539000	0.49286	0.655000	0.94253	CTT		0.353	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044327.1	NM_015932		25	49	1	0	5.45024e-15	1	7.15042e-15	25	49					A	29246494	C	A	29246494	3	1	48	1	0	0	0	0	1	0	0	0	12253	913	32	2	301	2	POMP	13	29246494	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	384319	29246494	85923384	3149	7617										
MTUS2	23281	broad.mit.edu	37	chr13	30071434	30071434	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgggacagagcccgccgcttCgaagaggccttgaggaagaa	15	11	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:30071434C>T	ENST00000380808.2	+	6	792	c.576C>T	c.(574-576)ttC>ttT	p.F192F	MTUS2_ENST00000542829.1_Silent_p.F102F|MTUS2_ENST00000431530.3_Silent_p.F1223F|MTUS2_ENST00000400542.3_3'UTR	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1213						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						CCCGCCGCTTCGAAGAGGCCT	0.617																																						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.(3667-3669)ttC>ttT		microtubule associated tumor suppressor candidate 2							32	41	38					13																	30071434		2092	4234	6326	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:30071434C>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	ENST00000380808.2:c.576C>T	13.37:g.30071434C>T			Somatic				MTUS2_ENST00000380808.2_Silent_p.F192F|MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000542829.1_Silent_p.F102F	p.F1223F	NM_001033602.2	NP_001028774.2	WXS	Illumina GAIIx	Phase_I	Q5JR59	MTUS2_HUMAN			11	3727	+			1213					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000380808.2	37	c.3669C>T	CCDS41874.1																																																																																				0.617	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044335.2	XM_166270		6	14	0	0	0	1	0	6	14					T	30071434	C	T	30071434	2	4	48	1	0	0	0	0	0	0	0	1	9975	883	31	1		1	MTUS2	13	30071434	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	824940	30071434	85098444	3150	7618										
USPL1	10208	broad.mit.edu	37	chr13	31231670	31231670	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgaaaggcacaagaaatttGaagttcctgcttcagagata	9	7	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:31231670G>T	ENST00000255304.4	+	9	1798	c.1456G>T	c.(1456-1458)Gaa>Taa	p.E486*		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	486	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CAAGAAATTTGAAGTTCCTGC	0.373																																					Ovarian(60;318 1180 1554 28110 31601)	ENST00000255304.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34						c.(1456-1458)Gaa>Taa		ubiquitin specific peptidase like 1							85	83	84					13																	31231670		2203	4300	6503	SO:0001587	stop_gained	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31231670G>T	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1456G>T	13.37:g.31231670G>T	ENSP00000255304:p.Glu486*		Somatic					p.E486*	NM_005800.4	NP_005791.3	WXS	Illumina GAIIx	Phase_I	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	9	1798	+		Lung SC(185;0.0257)|Breast(139;0.203)	486					Q14109|Q6AI45|Q8IY30|Q8IYE8	Nonsense_Mutation	SNP	ENST00000255304.4	37	c.1456G>T	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	G	40	8.485548	0.98832	.	.	ENSG00000132952	ENST00000255304	.	.	.	5.55	4.7	0.59300	.	0.273018	0.41500	D	0.000871	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-14.8753	10.7882	0.46417	0.0712:0.1405:0.7882:0.0	.	.	.	.	X	486	.	ENSP00000255304:E486X	E	+	1	0	USPL1	30129670	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	2.694000	0.47035	1.327000	0.45338	0.561000	0.74099	GAA		0.373	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		20	41	1	0	0.0438628	1	0.0445521	20	41					T	31231670	G	T	31231670	4	4	48	1	0	0	0	0	0	1	0	0	17107	1291	45	2	1486	2	USPL1	13	31231670	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1160236	31231670	83938208	3151	7619										
C13orf26	122046	broad.mit.edu	37	chr13	31526864	31526864	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctattctcaatcagacacaaTatagtgatgagtacacttgg	7	8	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:31526864T>C	ENST00000380473.3	+	3	227	c.214T>C	c.(214-216)Tat>Cat	p.Y72H		NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	72																	TCAGACACAATATAGTGATGA	0.343																																						ENST00000380473.3																			0											c.(214-216)Tat>Cat		testis expressed 26							107	102	104					13																	31526864		2203	4296	6499	SO:0001583	missense	122046							g.chr13:31526864T>C	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.214T>C	13.37:g.31526864T>C	ENSP00000369840:p.Tyr72His		Somatic					p.Y72H	NM_152325.1	NP_689538.1	WXS	Illumina GAIIx	Phase_I	Q8N6G2	CM026_HUMAN			3	227	+			72						Missense_Mutation	SNP	ENST00000380473.3	37	c.214T>C	CCDS9339.1	.	.	.	.	.	.	.	.	.	.	T	13.81	2.348859	0.41599	.	.	ENSG00000175664	ENST00000380473	T	0.61040	0.14	4.31	4.31	0.51392	.	0.000000	0.64402	D	0.000020	T	0.71896	0.3394	M	0.70275	2.135	0.35053	D	0.760848	D	0.89917	1.0	D	0.87578	0.998	T	0.80558	-0.1329	10	0.87932	D	0	-8.7946	9.7772	0.40626	0.0:0.0:0.0:1.0	.	72	Q8N6G2	CM026_HUMAN	H	72	ENSP00000369840:Y72H	ENSP00000369840:Y72H	Y	+	1	0	C13orf26	30424864	0.993000	0.37304	0.756000	0.31282	0.355000	0.29361	3.486000	0.53215	1.799000	0.52666	0.383000	0.25322	TAT		0.343	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2	NM_152325		25	31	0	0	0	1	0	25	31					C	31526864	T	C	31526864	3	2	48	1	0	0	0	0	1	0	0	0	1724	1406	49	4	224	4	C13orf26	13	31526864	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	295194	31526864	83643014	3152	7620										
HSPH1	10808	broad.mit.edu	37	chr13	31713236	31713236	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgaggagtctcaaaaaattTtgatgatccttaacacaaaa	7	6	1	3	rs376620526		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:31713236T>G	ENST00000320027.5	-	15	2333	c.1989A>C	c.(1987-1989)caA>caC	p.Q663H	HSPH1_ENST00000429785.2_Missense_Mutation_p.Q482H|HSPH1_ENST00000380406.5_Missense_Mutation_p.Q622H|HSPH1_ENST00000445273.2_Missense_Mutation_p.Q665H|HSPH1_ENST00000380405.4_Missense_Mutation_p.Q619H	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	663					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)		TCAAAAAATTTTGATGATCCT	0.363																																						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.(1987-1989)caA>caC		heat shock 105kDa/110kDa protein 1							89	84	86					13																	31713236		2203	4299	6502	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31713236T>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.1989A>C	13.37:g.31713236T>G	ENSP00000318687:p.Gln663His		Somatic				HSPH1_ENST00000445273.2_Missense_Mutation_p.Q665H|HSPH1_ENST00000380405.4_Missense_Mutation_p.Q619H|HSPH1_ENST00000380406.5_Missense_Mutation_p.Q622H|HSPH1_ENST00000429785.2_Missense_Mutation_p.Q482H	p.Q663H	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)	15	2333	-		Lung SC(185;0.0257)	663					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.1989A>C	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843407	0.51057	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	5.92	-7.49	0.01355	.	0.301793	0.33092	N	0.005295	T	0.17450	0.0419	L	0.60455	1.87	0.09310	N	0.999999	B;B;P;B;B	0.37176	0.324;0.02;0.586;0.238;0.155	B;B;P;B;B	0.46419	0.393;0.139;0.516;0.21;0.218	T	0.10132	-1.0643	10	0.72032	D	0.01	-8.4796	6.7442	0.23453	0.0705:0.2542:0.1396:0.5357	.	482;622;665;619;663	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	H	663;619;622;665;482	ENSP00000318687:Q663H;ENSP00000369768:Q619H;ENSP00000369769:Q622H;ENSP00000396090:Q665H;ENSP00000388778:Q482H	ENSP00000318687:Q663H	Q	-	3	2	HSPH1	30611236	0.000000	0.05858	0.003000	0.11579	0.980000	0.70556	-3.278000	0.00529	-1.518000	0.01778	-0.182000	0.12963	CAA		0.363	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			10	26	0	0	0	1	0	10	26					G	31713236	T	G	31713236	3	3	48	1	0	0	0	0	1	0	0	0	7440	1838	64	4	603	4	HSPH1	13	31713236	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	186372	31713236	83456642	3153	7621										
HSPH1	10808	broad.mit.edu	37	chr13	31714336	31714336	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catacctgctcacatataaaTttttcatatggtccacacag	4	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:31714336T>G	ENST00000320027.5	-	14	2309	c.1965A>C	c.(1963-1965)aaA>aaC	p.K655N	HSPH1_ENST00000429785.2_Missense_Mutation_p.K474N|HSPH1_ENST00000380406.5_Missense_Mutation_p.K614N|HSPH1_ENST00000445273.2_Missense_Mutation_p.K657N|HSPH1_ENST00000380405.4_Missense_Mutation_p.K611N	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	655					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)		CACATATAAATTTTTCATATG	0.328																																						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.(1963-1965)aaA>aaC		heat shock 105kDa/110kDa protein 1							168	147	154					13																	31714336		2202	4299	6501	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31714336T>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.1965A>C	13.37:g.31714336T>G	ENSP00000318687:p.Lys655Asn		Somatic				HSPH1_ENST00000445273.2_Missense_Mutation_p.K657N|HSPH1_ENST00000380405.4_Missense_Mutation_p.K611N|HSPH1_ENST00000380406.5_Missense_Mutation_p.K614N|HSPH1_ENST00000429785.2_Missense_Mutation_p.K474N	p.K655N	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)	14	2309	-		Lung SC(185;0.0257)	655					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.1965A>C	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.274301	0.59649	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	5.69	-8.18	0.01053	.	0.180089	0.47093	D	0.000251	T	0.11024	0.0269	L	0.28274	0.84	0.40240	D	0.97794	P;B;P;B;B	0.40282	0.711;0.089;0.549;0.096;0.337	P;B;B;B;P	0.47015	0.534;0.056;0.329;0.049;0.479	T	0.06807	-1.0806	10	0.41790	T	0.15	-22.3207	14.785	0.69796	0.0:0.5695:0.0861:0.3444	.	474;614;657;611;655	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	N	655;611;614;657;474	ENSP00000318687:K655N;ENSP00000369768:K611N;ENSP00000369769:K614N;ENSP00000396090:K657N;ENSP00000388778:K474N	ENSP00000318687:K655N	K	-	3	2	HSPH1	30612336	0.058000	0.20735	0.024000	0.17045	0.931000	0.56810	-0.671000	0.05250	-1.410000	0.02035	-0.250000	0.11733	AAA		0.328	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			19	36	0	0	0	1	0	19	36					G	31714336	T	G	31714336	3	3	48	1	0	0	0	0	1	0	0	0	7440	1490	52	4	631	4	HSPH1	13	31714336	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1100	31714336	83455542	3154	7622										
FRY	10129	broad.mit.edu	37	chr13	32759225	32759225	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgacaaagaagttgaaattCttaaagatatccgggcacat	8	6	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:32759225C>A	ENST00000380250.3	+	26	3755	c.3259C>A	c.(3259-3261)Ctt>Att	p.L1087I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1087						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)		AGTTGAAATTCTTAAAGATAT	0.438																																						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.(3259-3261)Ctt>Att		furry homolog (Drosophila)							97	94	95					13																	32759225		1885	4098	5983	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32759225C>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3259C>A	13.37:g.32759225C>A	ENSP00000369600:p.Leu1087Ile		Somatic					p.L1087I	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)	26	3755	+		Lung SC(185;0.0271)	1087					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.3259C>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093426	0.76756	.	.	ENSG00000073910	ENST00000380250	T	0.27256	1.68	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.46541	0.1398	L	0.52364	1.645	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.14896	-1.0456	10	0.37606	T	0.19	.	19.4663	0.94943	0.0:1.0:0.0:0.0	.	1087	Q5TBA9	FRY_HUMAN	I	1087	ENSP00000369600:L1087I	ENSP00000369600:L1087I	L	+	1	0	FRY	31657225	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.870000	0.56070	2.675000	0.91044	0.650000	0.86243	CTT		0.438	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		6	96	1	0	0.00116845	1	0.00122532	6	96					A	32759225	C	A	32759225	3	1	48	1	0	0	0	0	1	0	0	0	6071	913	32	2	3361	2	FRY	13	32759225	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1044889	32759225	82410653	3155	7623										
BRCA2	675	broad.mit.edu	37	chr13	32911760	32911760	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atagtcatataacccctcagAtgttattttccaagcaggat	6	9	2	1	rs398122760|rs80359381		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:32911760A>C	ENST00000380152.3	+	11	3501	c.3268A>C	c.(3268-3270)Atg>Ctg	p.M1090L	BRCA2_ENST00000544455.1_Missense_Mutation_p.M1090L			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1090					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)		AACCCCTCAGATGTTATTTTC	0.328			"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.(3268-3270)Atg>Ctg	Homologous recombination	breast cancer 2, early onset							53	56	55					13																	32911760		2192	4288	6480	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.chr13:32911760A>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.3268A>C	13.37:g.32911760A>C	ENSP00000369497:p.Met1090Leu	TCGA Ovarian(8;0.087)	Somatic				BRCA2_ENST00000380152.3_Missense_Mutation_p.M1090L	p.M1090L	NM_000059.3	NP_000050.2	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	3495	+		Lung SC(185;0.0262)	1090					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.3268A>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	0.033	-1.320057	0.01320	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00675	5.88;5.88	5.24	-1.75	0.08031	.	1.476540	0.03704	N	0.249164	T	0.00815	0.0027	L	0.34521	1.04	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.50056	-0.8872	10	0.12430	T	0.62	.	7.8961	0.29708	0.416:0.0:0.4697:0.1143	.	1090	P51587	BRCA2_HUMAN	L	1090	ENSP00000369497:M1090L;ENSP00000439902:M1090L	ENSP00000369497:M1090L	M	+	1	0	BRCA2	31809760	0.000000	0.05858	0.076000	0.20297	0.292000	0.27327	-0.060000	0.11712	-0.184000	0.10567	0.533000	0.62120	ATG		0.328	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		11	54	0	0	0	1	0	11	54					C	32911760	A	C	32911760	3	2	48	1	0	0	0	0	1	0	0	0	1501	333	12	4	3306	4	BRCA2	13	32911760	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	152535	32911760	82258118	3156	7624										
BRCA2	675	broad.mit.edu	37	chr13	32971071	32971071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaatgaagcagaaaacaagCttatgcatatactgcatgca	8	8	0	2	rs200598289		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:32971071C>T	ENST00000380152.3	+	26	9771	c.9538C>T	c.(9538-9540)Ctt>Ttt	p.L3180F	BRCA2_ENST00000544455.1_Missense_Mutation_p.L3180F			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3180					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)		AGAAAACAAGCTTATGCATAT	0.378			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			C|||	1	0.000199681	0	0	5008	,	,		18822	0.001		0	False		,,,				2504	0				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(9538-9540)Ctt>Ttt	Homologous recombination	breast cancer 2, early onset							199	196	197					13																	32971071		2203	4300	6503	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.chr13:32971071C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.9538C>T	13.37:g.32971071C>T	ENSP00000369497:p.Leu3180Phe	TCGA Ovarian(8;0.087)	Somatic				BRCA2_ENST00000380152.3_Missense_Mutation_p.L3180F	p.L3180F	NM_000059.3	NP_000050.2	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)	26	9765	+		Lung SC(185;0.0262)	3180					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.9538C>T	CCDS9344.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.87	3.715929	0.68844	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	D;D	0.84800	-1.9;-1.9	5.94	5.94	0.96194	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 3 (1);	0.000000	0.85682	D	0.000000	D	0.91365	0.7276	M	0.78916	2.43	0.42281	D	0.992097	D	0.89917	1.0	D	0.97110	1.0	D	0.91743	0.5406	10	0.87932	D	0	.	10.571	0.45200	0.0:0.9094:0.0:0.0906	.	3180	P51587	BRCA2_HUMAN	F	3180	ENSP00000369497:L3180F;ENSP00000439902:L3180F	ENSP00000369497:L3180F	L	+	1	0	BRCA2	31869071	1.000000	0.71417	0.996000	0.52242	0.781000	0.44180	1.452000	0.35156	2.816000	0.96949	0.563000	0.77884	CTT		0.378	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		79	130	0	0	0	1	0	79	130					T	32971071	C	T	32971071	3	4	48	1	0	0	0	0	1	0	0	0	1501	797	28	3	9636	3	BRCA2	13	32971071	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	59311	32971071	82198807	3157	7625										
BRCA2	90634	broad.mit.edu	37	chr13	32972843	32972843	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaagaacaggagagttcccAggccagtacggaagaatgtg	13	8	0	3	rs374275215		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:32972843A>G	ENST00000380130.2	-	0	3046				BRCA2_ENST00000380152.3_Missense_Mutation_p.Q3398R|BRCA2_ENST00000544455.1_Missense_Mutation_p.Q3398R|N4BP2L1_ENST00000459716.1_5'Flank	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)		GAGAGTTCCCAGGCCAGTACG	0.398																																						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.(10192-10194)cAg>cGg	Homologous recombination	breast cancer 2, early onset		A	ARG/GLN	0,4406		0,0,2203	63	59	61		10193	-1.1	0	13		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	BRCA2	NM_000059.3	43	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	3398/3419	32972843	1,13005	2203	4300	6503	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.chr13:32972843A>G	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.32972843A>G		TCGA Ovarian(8;0.087)	Somatic				BRCA2_ENST00000380152.3_Missense_Mutation_p.Q3398R	p.Q3398R	NM_000059.3	NP_000050.2	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	10420	+		Lung SC(185;0.0262)	3398					A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380130.2	37	c.10193A>G	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	A	10.78	1.448226	0.26074	0.0	1.16E-4	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00691	5.84;5.84	5.97	-1.1	0.09872	.	1.710450	0.02932	N	0.139323	T	0.00608	0.0020	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48269	-0.9050	10	0.23302	T	0.38	.	1.1546	0.01793	0.4724:0.1548:0.2377:0.1351	.	3398	P51587	BRCA2_HUMAN	R	3398	ENSP00000369497:Q3398R;ENSP00000439902:Q3398R	ENSP00000369497:Q3398R	Q	+	2	0	BRCA2	31870843	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.180000	0.09754	-0.075000	0.12798	-0.274000	0.10170	CAG		0.398	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818		22	47	0	0	0	1	0	22	47					G	32972843	A	G	32972843	1	3	48	0	1	0	0	0	0	0	0	0	1501	188	7	4		4	BRCA2	13	32972843	IGR	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1772	32972843	82197035	3158	7626										
N4BP2L2	10443	broad.mit.edu	37	chr13	33109973	33109973	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagtaacttctgcaatttatTtaacttttcctcttgaaact	3	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33109973T>G	ENST00000267068.3	-	2	1356	c.1192A>C	c.(1192-1194)Aat>Cat	p.N398H	N4BP2L2_ENST00000446957.2_Missense_Mutation_p.N398H|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	398					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TGCAATTTATTTAACTTTTCC	0.373																																						ENST00000267068.3																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1192-1194)Aat>Cat		NEDD4 binding protein 2-like 2							96	94	95					13																	33109973		2203	4300	6503	SO:0001583	missense	10443							g.chr13:33109973T>G	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.1192A>C	13.37:g.33109973T>G	ENSP00000267068:p.Asn398His		Somatic				N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.N398H|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	p.N398H	NM_014887.2	NP_055702.1	WXS	Illumina GAIIx	Phase_I	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	2	1356	-		Lung SC(185;0.0262)	398					A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	c.1192A>C	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.331135	0.24167	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.46063	0.88;0.88;0.88	5.8	2.0	0.26442	.	.	.	.	.	T	0.24624	0.0597	N	0.26092	0.79	0.19300	N	0.999973	B;B	0.15473	0.013;0.003	B;B	0.10450	0.005;0.002	T	0.22277	-1.0221	9	0.28530	T	0.3	-4.8648	2.5195	0.04676	0.1093:0.1295:0.2475:0.5137	.	398;398	D6R968;Q92802	.;N42L2_HUMAN	H	398	ENSP00000394239:N398H;ENSP00000423362:N398H;ENSP00000267068:N398H	ENSP00000267068:N398H	N	-	1	0	N4BP2L2	32007973	0.389000	0.25205	0.953000	0.39169	0.997000	0.91878	0.325000	0.19628	0.110000	0.17919	0.528000	0.53228	AAT		0.373	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887		6	76	0	0	0	1	0	6	76					G	33109973	T	G	33109973	3	3	48	1	0	0	0	0	1	0	0	0	10121	1841	64	4	2440	4	N4BP2L2	13	33109973	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	137130	33109973	82059905	3159	7627										
N4BP2L2	10443	broad.mit.edu	37	chr13	33110531	33110531	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcaggttttaagagaccatTattatgaccctcataaaatg	6	7	2	2	rs373675561		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33110531T>G	ENST00000267068.3	-	2	798	c.634A>C	c.(634-636)Aat>Cat	p.N212H	N4BP2L2_ENST00000446957.2_Missense_Mutation_p.N212H|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	212					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AAGAGACCATTATTATGACCC	0.348																																						ENST00000267068.3																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(634-636)Aat>Cat		NEDD4 binding protein 2-like 2							70	71	71					13																	33110531		2203	4299	6502	SO:0001583	missense	10443							g.chr13:33110531T>G	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.634A>C	13.37:g.33110531T>G	ENSP00000267068:p.Asn212His		Somatic				N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.N212H|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	p.N212H	NM_014887.2	NP_055702.1	WXS	Illumina GAIIx	Phase_I	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	2	798	-		Lung SC(185;0.0262)	212					A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	c.634A>C	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	T	10.99	1.506924	0.26949	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.43688	0.94;0.94;0.94	5.58	5.58	0.84498	.	.	.	.	.	T	0.52370	0.1730	L	0.59436	1.845	0.25816	N	0.984348	D;P	0.61080	0.989;0.93	P;P	0.55667	0.781;0.533	T	0.47812	-0.9088	9	0.36615	T	0.2	-0.8003	11.5685	0.50820	0.0:0.0:0.1598:0.8402	.	212;212	D6R968;Q92802	.;N42L2_HUMAN	H	212	ENSP00000394239:N212H;ENSP00000423362:N212H;ENSP00000267068:N212H	ENSP00000267068:N212H	N	-	1	0	N4BP2L2	32008531	0.000000	0.05858	0.019000	0.16419	0.758000	0.43043	0.518000	0.22847	2.134000	0.65973	0.460000	0.39030	AAT		0.348	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887		19	39	0	0	0	1	0	19	39					G	33110531	T	G	33110531	3	3	48	1	0	0	0	0	1	0	0	0	10121	1754	61	4	2998	4	N4BP2L2	13	33110531	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	558	33110531	82059347	3160	7628										
N4BP2L2	10443	broad.mit.edu	37	chr13	33111120	33111120	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtggctcactcgttacttcTtctctaggtcccaagaattt	7	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33111120T>G	ENST00000267068.3	-	2	209	c.45A>C	c.(43-45)gaA>gaC	p.E15D	N4BP2L2_ENST00000446957.2_Missense_Mutation_p.E15D|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	15					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TCGTTACTTCTTCTCTAGGTC	0.313																																						ENST00000267068.3																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(43-45)gaA>gaC		NEDD4 binding protein 2-like 2							83	75	78					13																	33111120		2203	4300	6503	SO:0001583	missense	10443							g.chr13:33111120T>G	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.45A>C	13.37:g.33111120T>G	ENSP00000267068:p.Glu15Asp		Somatic				N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.E15D|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	p.E15D	NM_014887.2	NP_055702.1	WXS	Illumina GAIIx	Phase_I	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	2	209	-		Lung SC(185;0.0262)	15					A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	c.45A>C	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	T	4.766	0.142358	0.09083	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.49432	0.79;0.78;0.78	4.89	2.39	0.29439	.	.	.	.	.	T	0.30696	0.0773	L	0.40543	1.245	0.09310	N	0.999996	B;B	0.17038	0.02;0.02	B;B	0.15052	0.012;0.007	T	0.25572	-1.0128	9	0.21540	T	0.41	.	0.4282	0.00467	0.2372:0.1743:0.1467:0.4419	.	15;15	D6R968;Q92802	.;N42L2_HUMAN	D	15	ENSP00000394239:E15D;ENSP00000423362:E15D;ENSP00000267068:E15D	ENSP00000267068:E15D	E	-	3	2	N4BP2L2	32009120	1.000000	0.71417	0.301000	0.25044	0.533000	0.34776	0.734000	0.26101	0.222000	0.20900	0.260000	0.18958	GAA		0.313	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887		12	26	0	0	0	1	0	12	26					G	33111120	T	G	33111120	3	3	48	1	0	0	0	0	1	0	0	0	10121	1606	56	4	3587	4	N4BP2L2	13	33111120	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	589	33111120	82058758	3161	7629										
PDS5B	23047	broad.mit.edu	37	chr13	33316752	33316752	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggctattaaaatgatggtTcgatggctacttggaatgaa	11	5	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33316752T>C	ENST00000315596.10	+	23	2685	c.2499T>C	c.(2497-2499)gtT>gtC	p.V833V		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	833					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)		AAATGATGGTTCGATGGCTAC	0.308																																						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.(2497-2499)gtT>gtC		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							113	103	106					13																	33316752		1829	4087	5916	SO:0001819	synonymous_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.chr13:33316752T>C	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.2499T>C	13.37:g.33316752T>C			Somatic					p.V833V	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)	23	2685	+		Lung SC(185;0.0367)	833					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Silent	SNP	ENST00000315596.10	37	c.2499T>C	CCDS41878.1																																																																																				0.308	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		17	34	0	0	0	1	0	17	34					C	33316752	T	C	33316752	2	2	48	1	0	0	0	0	0	0	0	1	11701	1770	62	4		4	PDS5B	13	33316752	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	205632	33316752	81853126	3162	7630										
PDS5B	23047	broad.mit.edu	37	chr13	33332303	33332303	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttatcagaaagatggtagaAaatattaaacaaacaaaaga	6	3	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33332303A>C	ENST00000315596.10	+	27	3321	c.3135A>C	c.(3133-3135)gaA>gaC	p.E1045D		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1045					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)		AGATGGTAGAAAATATTAAAC	0.264																																						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.(3133-3135)gaA>gaC		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							54	54	54					13																	33332303		1800	4048	5848	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.chr13:33332303A>C	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.3135A>C	13.37:g.33332303A>C	ENSP00000313851:p.Glu1045Asp		Somatic					p.E1045D	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)	27	3321	+		Lung SC(185;0.0367)	1045					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.3135A>C	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443468	0.83993	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.57	5.57	0.84162	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77831	0.4189	M	0.71581	2.175	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.77520	-0.2557	9	0.39692	T	0.17	-32.7077	15.7398	0.77882	1.0:0.0:0.0:0.0	.	1045	Q9NTI5	PDS5B_HUMAN	D	1045	.	ENSP00000313851:E1045D	E	+	3	2	PDS5B	32230303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.444000	0.60001	2.105000	0.64084	0.460000	0.39030	GAA		0.264	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		15	27	0	0	0	1	0	15	27					C	33332303	A	C	33332303	3	2	48	1	0	0	0	0	1	0	0	0	11701	11	1	4	3237	4	PDS5B	13	33332303	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	15551	33332303	81837575	3163	7631										
STARD13	90627	broad.mit.edu	37	chr13	33703873	33703873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctgcaggcaggtggcggcGaattctggagatctccattt	13	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33703873G>A	ENST00000336934.5	-	5	1057	c.941C>T	c.(940-942)tCg>tTg	p.S314L	STARD13_ENST00000399365.3_Missense_Mutation_p.S196L|STARD13_ENST00000255486.4_Missense_Mutation_p.S306L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	314					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AGGTGGCGGCGAATTCTGGAG	0.602																																						ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(940-942)tCg>tTg		StAR-related lipid transfer (START) domain containing 13							102	102	102					13																	33703873		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33703873G>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.941C>T	13.37:g.33703873G>A	ENSP00000338785:p.Ser314Leu		Somatic				STARD13_ENST00000255486.4_Missense_Mutation_p.S306L|STARD13_ENST00000399365.3_Missense_Mutation_p.S196L	p.S314L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	WXS	Illumina GAIIx	Phase_I	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	1057	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	314					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.941C>T	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.475266	0.01035	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.06608	3.28;3.29;3.29	5.92	3.24	0.37175	.	0.975277	0.08435	N	0.946336	T	0.04452	0.0122	N	0.15975	0.35	0.09310	N	1	B;B;B;B	0.14012	0.009;0.002;0.001;0.001	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.44298	-0.9337	10	0.27082	T	0.32	.	8.0669	0.30665	0.3577:0.0:0.6423:0.0	.	306;279;314;306	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	L	196;306;314;306	ENSP00000382300:S196L;ENSP00000255486:S306L;ENSP00000338785:S314L	ENSP00000255486:S306L	S	-	2	0	STARD13	32601873	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.654000	0.24918	0.837000	0.34925	0.655000	0.94253	TCG		0.602	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		35	64	0	0	0	1	0	35	64					A	33703873	G	A	33703873	3	1	48	1	0	0	0	0	1	0	0	0	15271	1059	37	1	2440	1	STARD13	13	33703873	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	371570	33703873	81466005	3164	7632										
CCNA1	8900	broad.mit.edu	37	chr13	37011779	37011779	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttttaggggatcacaagaaTcaggtgttattctggatcag	11	5	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:37011779T>G	ENST00000255465.4	+	3	575	c.311T>G	c.(310-312)aTc>aGc	p.I104S	CCNA1_ENST00000418263.1_Missense_Mutation_p.I103S|CCNA1_ENST00000440264.1_Missense_Mutation_p.I60S|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000449823.1_Missense_Mutation_p.I60S			P78396	CCNA1_HUMAN	cyclin A1	104					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)		ATCACAAGAATCAGGTGTTAT	0.483																																						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.(307-309)aTc>aGc		cyclin A1							110	121	117					13																	37011779		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37011779T>G	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.311T>G	13.37:g.37011779T>G	ENSP00000255465:p.Ile104Ser		Somatic				CCNA1_ENST00000440264.1_Missense_Mutation_p.I60S|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000255465.4_Missense_Mutation_p.I104S|CCNA1_ENST00000449823.1_Missense_Mutation_p.I60S	p.I103S	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)	3	658	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	104					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.308T>G	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	T	11.31	1.601490	0.28534	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.18174	2.31;2.31;2.23;2.23	5.47	4.26	0.50523	.	1.163670	0.05966	N	0.641548	T	0.17704	0.0425	L	0.51422	1.61	0.29514	N	0.854013	B;B	0.25904	0.137;0.051	B;B	0.25140	0.058;0.016	T	0.39231	-0.9624	10	0.11794	T	0.64	.	9.0637	0.36449	0.0:0.1513:0.0:0.8487	.	103;104	P78396-2;P78396	.;CCNA1_HUMAN	S	60;60;103;104	ENSP00000400666:I60S;ENSP00000409873:I60S;ENSP00000396479:I103S;ENSP00000255465:I104S	ENSP00000255465:I104S	I	+	2	0	CCNA1	35909779	0.670000	0.27512	0.599000	0.28851	0.822000	0.46500	2.171000	0.42453	0.873000	0.35799	0.374000	0.22700	ATC		0.483	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		34	71	0	0	0	1	0	34	71					G	37011779	T	G	37011779	3	3	48	1	0	0	0	0	1	0	0	0	2911	1435	50	4	321	4	CCNA1	13	37011779	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	3307906	37011779	78158099	3165	7633										
POSTN	10631	broad.mit.edu	37	chr13	38160307	38160307	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actttgtctcccatgatcctTtctaggacacctcgtggaag	8	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:38160307T>G	ENST00000379747.4	-	7	981	c.864A>C	c.(862-864)gaA>gaC	p.E288D	POSTN_ENST00000379749.4_Missense_Mutation_p.E288D|POSTN_ENST00000379743.4_Missense_Mutation_p.E288D|POSTN_ENST00000379742.4_Missense_Mutation_p.E288D|POSTN_ENST00000541179.1_Missense_Mutation_p.E288D|POSTN_ENST00000541481.1_Missense_Mutation_p.E288D	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	288	FAS1 2. {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)		CCATGATCCTTTCTAGGACAC	0.468																																						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.(862-864)gaA>gaC		periostin, osteoblast specific factor							103	99	100					13																	38160307		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38160307T>G	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.864A>C	13.37:g.38160307T>G	ENSP00000369071:p.Glu288Asp		Somatic				POSTN_ENST00000541481.1_Missense_Mutation_p.E288D|POSTN_ENST00000541179.1_Missense_Mutation_p.E288D|POSTN_ENST00000379743.4_Missense_Mutation_p.E288D|POSTN_ENST00000379749.4_Missense_Mutation_p.E288D|POSTN_ENST00000379742.4_Missense_Mutation_p.E288D	p.E288D	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)	7	981	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	288			FAS1 2.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.864A>C	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.816191	0.50527	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	5.81	1.95	0.26073	FAS1 domain (5);	0.185554	0.56097	N	0.000022	D	0.85539	0.5720	N	0.25094	0.71	0.38552	D	0.949487	P;P;B;D;D;B;B	0.57257	0.941;0.934;0.18;0.958;0.979;0.019;0.18	P;P;B;P;P;B;B	0.56474	0.785;0.679;0.174;0.799;0.679;0.03;0.174	T	0.79514	-0.1772	10	0.13108	T	0.6	-24.64	5.2345	0.15439	0.0:0.2044:0.2603:0.5354	.	288;288;288;288;288;288;288	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	D	288;288;288;288;288;288;205	ENSP00000437959:E288D;ENSP00000369073:E288D;ENSP00000369071:E288D;ENSP00000369067:E288D;ENSP00000369066:E288D;ENSP00000437953:E288D	ENSP00000369066:E288D	E	-	3	2	POSTN	37058307	1.000000	0.71417	0.998000	0.56505	0.825000	0.46686	0.616000	0.24344	0.107000	0.17824	-0.316000	0.08728	GAA		0.468	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		30	31	0	0	0	1	0	30	31					G	38160307	T	G	38160307	3	3	48	1	0	0	0	0	1	0	0	0	12268	1838	64	4	1714	4	POSTN	13	38160307	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1148528	38160307	77009571	3166	7634										
TRPC4	7223	broad.mit.edu	37	chr13	38211329	38211329	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagattccagttgaatatttCtctcaagtggtcctgcagcc	9	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:38211329C>A	ENST00000379705.3	-	11	3502	c.2645G>T	c.(2644-2646)aGa>aTa	p.R882I	TRPC4_ENST00000379673.2_Missense_Mutation_p.R733I|TRPC4_ENST00000379681.3_Missense_Mutation_p.R887I|TRPC4_ENST00000379679.1_Missense_Mutation_p.R709I|TRPC4_ENST00000358477.2_Missense_Mutation_p.R798I|TRPC4_ENST00000355779.2_Missense_Mutation_p.R741I|TRPC4_ENST00000447043.1_Missense_Mutation_p.R741I|TRPC4_ENST00000338947.5_Missense_Mutation_p.R709I|TRPC4_ENST00000426868.2_3'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	882	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)		TTGAATATTTCTCTCAAGTGG	0.438																																						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.(2644-2646)aGa>aTa		transient receptor potential cation channel, subfamily C, member 4							90	85	87					13																	38211329		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.chr13:38211329C>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2645G>T	13.37:g.38211329C>A	ENSP00000369027:p.Arg882Ile		Somatic				TRPC4_ENST00000338947.5_Missense_Mutation_p.R709I|TRPC4_ENST00000379681.3_Missense_Mutation_p.R887I|TRPC4_ENST00000379679.1_Missense_Mutation_p.R709I|TRPC4_ENST00000358477.2_Missense_Mutation_p.R798I|TRPC4_ENST00000447043.1_Missense_Mutation_p.R741I|TRPC4_ENST00000355779.2_Missense_Mutation_p.R741I|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.R733I	p.R882I			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)	11	3502	-			882			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.2645G>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711135	0.48517	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.72942	-0.33;-0.33;-0.14;-0.14;0.02;-0.42;-0.7;0.02	5.76	3.78	0.43462	.	1.446920	0.03687	N	0.246453	T	0.67192	0.2867	N	0.08118	0	0.80722	D	1	B;B;P;P;P;B	0.48694	0.004;0.32;0.914;0.755;0.606;0.112	B;B;P;B;B;B	0.61328	0.005;0.134;0.887;0.367;0.369;0.041	T	0.65352	-0.6189	10	0.72032	D	0.01	-9.2475	2.6721	0.05070	0.0:0.4484:0.2998:0.2518	.	741;733;887;709;798;882	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	I	882;887;709;709;741;798;733;741	ENSP00000369027:R882I;ENSP00000369003:R887I;ENSP00000342580:R709I;ENSP00000369001:R709I;ENSP00000348025:R741I;ENSP00000351264:R798I;ENSP00000368995:R733I;ENSP00000414316:R741I	ENSP00000342580:R709I	R	-	2	0	TRPC4	37109329	0.999000	0.42202	0.669000	0.29828	0.992000	0.81027	1.988000	0.40697	1.413000	0.46997	0.563000	0.77884	AGA		0.438	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		13	41	1	0	2.27111e-07	1	2.60515e-07	13	41					A	38211329	C	A	38211329	3	1	48	1	0	0	0	0	1	0	0	0	16595	913	32	2	292	2	TRPC4	13	38211329	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	51022	38211329	76958549	3167	7635										
TRPC4	7223	broad.mit.edu	37	chr13	38320162	38320162	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gactattgtcatctcggtaaTtaagaatgatttccagttct	7	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:38320162T>G	ENST00000379705.3	-	3	1666	c.809A>C	c.(808-810)aAt>aCt	p.N270T	TRPC4_ENST00000379673.2_Missense_Mutation_p.N270T|TRPC4_ENST00000379681.3_Missense_Mutation_p.N270T|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.N270T|TRPC4_ENST00000355779.2_Missense_Mutation_p.N270T|TRPC4_ENST00000447043.1_Missense_Mutation_p.N270T|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000426868.2_Missense_Mutation_p.N270T			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	270	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATCTCGGTAATTAAGAATGAT	0.413																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(808-810)aAt>aCt		transient receptor potential cation channel, subfamily C, member 4							186	176	179					13																	38320162		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.chr13:38320162T>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.809A>C	13.37:g.38320162T>G	ENSP00000369027:p.Asn270Thr		Somatic				TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.N270T|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.N270T|TRPC4_ENST00000447043.1_Missense_Mutation_p.N270T|TRPC4_ENST00000355779.2_Missense_Mutation_p.N270T|TRPC4_ENST00000426868.2_Missense_Mutation_p.N270T|TRPC4_ENST00000379673.2_Missense_Mutation_p.N270T	p.N270T			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)	3	1666	-			270			Multimerization domain (By similarity).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.809A>C	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.479511	0.84747	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	6.07	6.07	0.98685	.	0.039921	0.85682	D	0.000000	D	0.85852	0.5793	M	0.91038	3.17	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.844;1.0;1.0	D;D;P;D;D	0.91635	0.999;0.999;0.501;0.999;0.999	D	0.88849	0.3318	10	0.87932	D	0	-31.952	16.6407	0.85098	0.0:0.0:0.0:1.0	.	270;270;270;270;270	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-2;Q9UBN4	.;.;.;.;TRPC4_HUMAN	T	270	ENSP00000369027:N270T;ENSP00000369003:N270T;ENSP00000410133:N270T;ENSP00000348025:N270T;ENSP00000351264:N270T;ENSP00000368995:N270T;ENSP00000414316:N270T	ENSP00000348025:N270T	N	-	2	0	TRPC4	37218162	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	AAT		0.413	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		10	125	0	0	0	1	0	10	125					G	38320162	T	G	38320162	3	3	48	1	0	0	0	0	1	0	0	0	16595	1493	52	4	2175	4	TRPC4	13	38320162	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	108833	38320162	76849716	3168	7636										
FREM2	341640	broad.mit.edu	37	chr13	39264612	39264612	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agatatgtctcaagaatggaGaattggtggcaatactatcc	10	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:39264612G>A	ENST00000280481.7	+	1	3347	c.3131G>A	c.(3130-3132)aGa>aAa	p.R1044K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1044					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.R1044I(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)		CAAGAATGGAGAATTGGTGGC	0.448																																						ENST00000280481.7																			1	Substitution - Missense(1)	p.R1044I(1)	upper_aerodigestive_tract(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.(3130-3132)aGa>aAa		FRAS1 related extracellular matrix protein 2							126	127	126					13																	39264612		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39264612G>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.3131G>A	13.37:g.39264612G>A	ENSP00000280481:p.Arg1044Lys		Somatic					p.R1044K	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	3347	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1044					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.3131G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	4.646	0.120088	0.08881	.	.	ENSG00000150893	ENST00000280481	T	0.18174	2.23	5.79	1.81	0.25067	.	0.384244	0.29046	N	0.013314	T	0.09598	0.0236	L	0.44542	1.39	0.09310	N	1	B	0.13594	0.008	B	0.17098	0.017	T	0.36065	-0.9763	10	0.06891	T	0.86	.	1.9097	0.03284	0.1495:0.342:0.2519:0.2566	.	1044	Q5SZK8	FREM2_HUMAN	K	1044	ENSP00000280481:R1044K	ENSP00000280481:R1044K	R	+	2	0	FREM2	38162612	0.000000	0.05858	0.893000	0.35052	0.450000	0.32258	-0.083000	0.11286	0.332000	0.23536	-0.145000	0.13849	AGA		0.448	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		12	118	0	0	0	1	0	12	118					A	39264612	G	A	39264612	3	1	48	1	0	0	0	0	1	0	0	0	6053	942	33	3	3133	3	FREM2	13	39264612	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	944450	39264612	75905266	3169	7637										
FREM2	341640	broad.mit.edu	37	chr13	39265586	39265586	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaatatcacactgggcatgAattttacccaggatgaagta	8	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:39265586A>C	ENST00000280481.7	+	1	4321	c.4105A>C	c.(4105-4107)Aat>Cat	p.N1369H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1369					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)		ACTGGGCATGAATTTTACCCA	0.393																																						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.(4105-4107)Aat>Cat		FRAS1 related extracellular matrix protein 2							68	66	67					13																	39265586		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265586A>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.4105A>C	13.37:g.39265586A>C	ENSP00000280481:p.Asn1369His		Somatic					p.N1369H	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	4321	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1369					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.4105A>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.573568	0.65765	.	.	ENSG00000150893	ENST00000280481	T	0.63255	-0.03	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82903	0.5138	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86499	0.1802	10	0.72032	D	0.01	.	16.1699	0.81801	1.0:0.0:0.0:0.0	.	1369	Q5SZK8	FREM2_HUMAN	H	1369	ENSP00000280481:N1369H	ENSP00000280481:N1369H	N	+	1	0	FREM2	38163586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	2.217000	0.71921	0.533000	0.62120	AAT		0.393	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		20	45	0	0	0	1	0	20	45					C	39265586	A	C	39265586	3	2	48	1	0	0	0	0	1	0	0	0	6053	246	9	4	4107	4	FREM2	13	39265586	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	974	39265586	75904292	3170	7638										
NHLRC3	387921	broad.mit.edu	37	chr13	39616246	39616246	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atatctatctttataggattCtttggtcatactgttaaaaa	5	5	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:39616246C>A	ENST00000379600.3	+	4	712	c.390C>A	c.(388-390)ttC>ttA	p.F130L	NHLRC3_ENST00000379599.2_Intron|NHLRC3_ENST00000470258.1_5'UTR	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	130						extracellular vesicular exosome (GO:0070062)		p.F130L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TTATAGGATTCTTTGGTCATA	0.318																																						ENST00000379600.3																			1	Substitution - Missense(1)	p.F130L(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11						c.(388-390)ttC>ttA		NHL repeat containing 3							73	70	71					13																	39616246		2203	4300	6503	SO:0001583	missense	387921					extracellular region		g.chr13:39616246C>A		CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.390C>A	13.37:g.39616246C>A	ENSP00000368920:p.Phe130Leu		Somatic				NHLRC3_ENST00000379599.2_Intron|NHLRC3_ENST00000470258.1_5'UTR	p.F130L	NM_001012754.2	NP_001012772.1	WXS	Illumina GAIIx	Phase_I	Q5JS37	NHLC3_HUMAN		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)	4	712	+		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	130					B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	ENST00000379600.3	37	c.390C>A	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	C	4.267	0.048572	0.08243	.	.	ENSG00000188811	ENST00000379600	T	0.40476	1.03	5.07	-0.346	0.12620	Six-bladed beta-propeller, TolB-like (1);	0.616244	0.17058	N	0.188658	T	0.20251	0.0487	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.09997	-1.0649	9	.	.	.	-0.0195	2.0348	0.03537	0.2409:0.3947:0.2158:0.1486	.	130;130	Q5JS37;B4DRC8	NHLC3_HUMAN;.	L	130	ENSP00000368920:F130L	.	F	+	3	2	NHLRC3	38514246	0.000000	0.05858	0.735000	0.30896	0.370000	0.29829	-0.271000	0.08572	0.131000	0.18576	0.467000	0.42956	TTC		0.318	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	NM_001012754		15	18	1	0	3.27435e-08	1	3.83577e-08	15	18					A	39616246	C	A	39616246	3	1	48	1	0	0	0	0	1	0	0	0	10416	912	32	2	404	2	NHLRC3	13	39616246	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	350660	39616246	75553632	3171	7639										
COG6	57511	broad.mit.edu	37	chr13	40261896	40261896	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caagctactgcttctgaaaaGgaacaccttgaagctctctt	7	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:40261896G>T	ENST00000455146.3	+	10	1019	c.969G>T	c.(967-969)aaG>aaT	p.K323N	COG6_ENST00000416691.1_Missense_Mutation_p.K323N	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	323					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)		CTTCTGAAAAGGAACACCTTG	0.368																																						ENST00000416691.1																			0				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13						c.(967-969)aaG>aaT		component of oligomeric golgi complex 6							102	96	98					13																	40261896		2203	4300	6503	SO:0001583	missense	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40261896G>T	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.969G>T	13.37:g.40261896G>T	ENSP00000397441:p.Lys323Asn		Somatic				COG6_ENST00000455146.3_Missense_Mutation_p.K323N	p.K323N	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)	10	1069	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	323					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	c.969G>T	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562654	0.65538	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000455146	T;T	0.57107	0.42;0.42	5.86	4.93	0.64822	.	0.044330	0.85682	D	0.000000	T	0.67813	0.2933	M	0.81802	2.56	0.80722	D	1	D;D	0.63880	0.993;0.968	D;P	0.65874	0.939;0.81	T	0.69405	-0.5154	10	0.54805	T	0.06	-15.4745	6.17	0.20412	0.345:0.0:0.655:0.0	.	344;323	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	N	323;354;323	ENSP00000403733:K323N;ENSP00000397441:K323N	ENSP00000255468:K354N	K	+	3	2	COG6	39159896	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.619000	0.36965	1.263000	0.44181	0.591000	0.81541	AAG		0.368	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			10	31	1	0	0.0581538	1	0.0589718	10	31					T	40261896	G	T	40261896	3	4	48	1	0	0	0	0	1	0	0	0	3664	991	35	5	1007	5	COG6	13	40261896	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	645650	40261896	74907982	3172	7640										
KBTBD6	89890	broad.mit.edu	37	chr13	41706285	41706285	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagtcgaccaacacctcgaaGgactcggcgtccacatcgtg	10	14	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41706285G>T	ENST00000379485.1	-	1	597	c.363C>A	c.(361-363)tcC>tcA	p.S121S	KBTBD6_ENST00000499385.2_Silent_p.S55S	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	121	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									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)		ACACCTCGAAGGACTCGGCGT	0.602																																						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.(361-363)tcC>tcA		kelch repeat and BTB (POZ) domain containing 6							67	54	59					13																	41706285		2203	4297	6500	SO:0001819	synonymous_variant	89890						protein binding	g.chr13:41706285G>T	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.363C>A	13.37:g.41706285G>T			Somatic				KBTBD6_ENST00000499385.2_Silent_p.S55S	p.S121S	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	597	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	121			BTB.		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Silent	SNP	ENST00000379485.1	37	c.363C>A	CCDS9376.1																																																																																				0.602	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		23	42	1	0	1.75199e-13	1	2.24662e-13	23	42					T	41706285	G	T	41706285	2	4	48	1	0	0	0	0	0	0	0	1	8006	987	35	5		5	KBTBD6	13	41706285	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1444389	41706285	73463593	3173	7641										
KBTBD6	89890	broad.mit.edu	37	chr13	41706525	41706525	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgcagaatgggccgtgtcCtttaattcctctggacccgt	11	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41706525C>A	ENST00000379485.1	-	1	357	c.123G>T	c.(121-123)aaG>aaT	p.K41N	KBTBD6_ENST00000499385.2_Missense_Mutation_p.K41N	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	41										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)		GGGCCGTGTCCTTTAATTCCT	0.607																																						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.(121-123)aaG>aaT		kelch repeat and BTB (POZ) domain containing 6							115	120	119					13																	41706525		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41706525C>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.123G>T	13.37:g.41706525C>A	ENSP00000368799:p.Lys41Asn		Somatic				KBTBD6_ENST00000499385.2_Missense_Mutation_p.K41N	p.K41N	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	357	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	41					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.123G>T	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	c	13.90	2.375483	0.42105	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.75704	-0.96;-0.49	3.65	3.65	0.41850	BTB/POZ fold (2);	0.065053	0.64402	D	0.000019	T	0.52338	0.1728	N	0.14661	0.345	0.26823	N	0.968744	B;P	0.40144	0.001;0.704	B;B	0.33042	0.001;0.157	T	0.47302	-0.9128	10	0.20046	T	0.44	.	13.2074	0.59805	0.0:1.0:0.0:0.0	.	41;41	F5GZN7;Q86V97	.;KBTB6_HUMAN	N	41	ENSP00000368799:K41N;ENSP00000444326:K41N	ENSP00000368799:K41N	K	-	3	2	KBTBD6	40604525	0.998000	0.40836	1.000000	0.80357	0.939000	0.58152	0.965000	0.29319	2.061000	0.61500	0.313000	0.20887	AAG		0.607	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		81	138	1	0	2.28164e-27	1	3.2341e-27	81	138					A	41706525	C	A	41706525	3	1	48	1	0	0	0	0	1	0	0	0	8006	680	24	5	1905	5	KBTBD6	13	41706525	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	240	41706525	73463353	3174	7642										
KBTBD7	84078	broad.mit.edu	37	chr13	41767897	41767897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agttggtcaggtcaagacgtCgggctaagaaggaggcacag	16	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41767897C>T	ENST00000379483.3	-	1	805	c.497G>A	c.(496-498)cGa>cAa	p.R166Q		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	166										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)		GTCAAGACGTCGGGCTAAGAA	0.572																																						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.(496-498)cGa>cAa		kelch repeat and BTB (POZ) domain containing 7							108	94	99					13																	41767897		2203	4298	6501	SO:0001583	missense	84078						protein binding	g.chr13:41767897C>T	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.497G>A	13.37:g.41767897C>T	ENSP00000368797:p.Arg166Gln		Somatic					p.R166Q	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	805	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	166					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.497G>A	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784650	0.70222	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.70869	-0.52	5.42	4.58	0.56647	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	U	0.000001	T	0.76399	0.3982	L	0.35793	1.09	0.40204	D	0.977551	D	0.89917	1.0	D	0.87578	0.998	T	0.78102	-0.2335	10	0.56958	D	0.05	.	12.1492	0.54040	0.0:0.9157:0.0:0.0843	.	166	Q8WVZ9	KBTB7_HUMAN	Q	166;68	ENSP00000368797:R166Q	ENSP00000368797:R166Q	R	-	2	0	KBTBD7	40665897	1.000000	0.71417	0.967000	0.41034	0.893000	0.52053	4.450000	0.60041	1.281000	0.44480	0.563000	0.77884	CGA		0.572	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		38	64	0	0	0	1	0	38	64					T	41767897	C	T	41767897	3	4	48	1	0	0	0	0	1	0	0	0	8007	884	31	1	1561	1	KBTBD7	13	41767897	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	61372	41767897	73401981	3175	7643										
MTRF1	9617	broad.mit.edu	37	chr13	41834816	41834816	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcaggttctccatatatttCtgtagtgctttatgcttcca	6	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41834816C>A	ENST00000379480.4	-	2	328	c.228G>T	c.(226-228)caG>caT	p.Q76H	MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000379477.1_Missense_Mutation_p.Q76H|MTRF1_ENST00000430347.2_Missense_Mutation_p.Q89H	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	76					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CCATATATTTCTGTAGTGCTT	0.423																																						ENST00000379480.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14						c.(226-228)caG>caT		mitochondrial translational release factor 1							198	181	187					13																	41834816		2203	4300	6503	SO:0001583	missense	9617				regulation of translational termination	mitochondrion	translation release factor activity, codon specific	g.chr13:41834816C>A	AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"mitochontrial peptide chain release factor 1"	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.228G>T	13.37:g.41834816C>A	ENSP00000368793:p.Gln76His		Somatic				MTRF1_ENST00000430347.2_Missense_Mutation_p.Q89H|MTRF1_ENST00000379477.1_Missense_Mutation_p.Q76H|MTRF1_ENST00000239852.6_5'UTR	p.Q76H	NM_004294.2	NP_004285.2	WXS	Illumina GAIIx	Phase_I	O75570	RF1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)	2	328	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)	76					B4DG01|Q5T6Y5|Q8IUQ6	Missense_Mutation	SNP	ENST00000379480.4	37	c.228G>T	CCDS9378.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353031	0.61293	.	.	ENSG00000120662	ENST00000379480;ENST00000379477;ENST00000430347;ENST00000239852;ENST00000452359	T;T;T;T	0.26223	2.86;2.86;2.84;1.75	4.83	3.1	0.35709	.	0.063358	0.64402	D	0.000004	T	0.30885	0.0779	L	0.32530	0.975	0.43271	D	0.995225	D;P	0.57899	0.981;0.857	P;P	0.57371	0.819;0.65	T	0.03306	-1.1050	10	0.87932	D	0	-5.639	9.2225	0.37386	0.0:0.7653:0.0:0.2347	.	89;76	B4DG01;O75570	.;RF1M_HUMAN	H	76;76;89;76;76	ENSP00000368793:Q76H;ENSP00000368790:Q76H;ENSP00000400031:Q89H;ENSP00000399279:Q76H	ENSP00000239852:Q76H	Q	-	3	2	MTRF1	40732816	0.998000	0.40836	0.997000	0.53966	0.870000	0.49936	0.367000	0.20382	0.628000	0.30357	0.467000	0.42956	CAG		0.423	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044666.3	NM_004294		19	93	1	0	1.01871e-10	1	1.25646e-10	19	93					A	41834816	C	A	41834816	3	1	48	1	0	0	0	0	1	0	0	0	9968	912	32	2	1145	2	MTRF1	13	41834816	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	66919	41834816	73335062	3176	7644										
NAA16	79612	broad.mit.edu	37	chr13	41933048	41933048	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatgtgcaaaatacatgcttCgagcaaatatgataaaagaa	7	5	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41933048C>T	ENST00000379406.3	+	12	1684	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	NAA16_ENST00000379367.3_Nonsense_Mutation_p.R454*	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	454					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)	p.R454*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						ATACATGCTTCGAGCAAATAT	0.378																																						ENST00000379406.3																			1	Substitution - Nonsense(1)	p.R454*(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(1360-1362)Cga>Tga		N(alpha)-acetyltransferase 16, NatA auxiliary subunit							99	100	100					13																	41933048		2203	4300	6503	SO:0001587	stop_gained	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41933048C>T	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1360C>T	13.37:g.41933048C>T	ENSP00000368716:p.Arg454*		Somatic				NAA16_ENST00000379367.3_Nonsense_Mutation_p.R454*	p.R454*	NM_024561.4	NP_078837.3	WXS	Illumina GAIIx	Phase_I	Q6N069	NAA16_HUMAN			12	1684	+			454					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Nonsense_Mutation	SNP	ENST00000379406.3	37	c.1360C>T	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	C	37	6.430056	0.97559	.	.	ENSG00000172766	ENST00000379367;ENST00000379406	.	.	.	4.91	4.06	0.47325	.	0.000000	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0544	12.3984	0.55399	0.306:0.694:0.0:0.0	.	.	.	.	X	454	.	ENSP00000368674:R454X	R	+	1	2	NAA16	40831048	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	2.380000	0.44327	1.031000	0.39867	-0.314000	0.08810	CGA		0.378	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		25	48	0	0	0	1	0	25	48					T	41933048	C	T	41933048	4	4	48	1	0	0	0	0	0	1	0	0	10128	876	31	1	1439	1	NAA16	13	41933048	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	98232	41933048	73236830	3177	7645										
NAA16	79612	broad.mit.edu	37	chr13	41943339	41943339	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaagagaacgtcaacagaaaAatcaaaagaaaaaaagagat	7	4	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41943339A>C	ENST00000379406.3	+	15	2191	c.1867A>C	c.(1867-1869)Aat>Cat	p.N623H	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	623					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						tcaacagaaaaatcaaaagaa	0.358																																						ENST00000379406.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(1867-1869)Aat>Cat		N(alpha)-acetyltransferase 16, NatA auxiliary subunit							67	71	70					13																	41943339		2203	4299	6502	SO:0001583	missense	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41943339A>C	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1867A>C	13.37:g.41943339A>C	ENSP00000368716:p.Asn623His		Somatic				NAA16_ENST00000497143.1_3'UTR	p.N623H	NM_024561.4	NP_078837.3	WXS	Illumina GAIIx	Phase_I	Q6N069	NAA16_HUMAN			15	2191	+			623					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	c.1867A>C	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.014117	0.54468	.	.	ENSG00000172766	ENST00000379406	T	0.42131	0.98	5.38	5.38	0.77491	.	0.481278	0.22244	N	0.062641	T	0.34513	0.0900	L	0.33753	1.03	0.80722	D	1	B	0.11235	0.004	B	0.17979	0.02	T	0.08576	-1.0715	10	0.26408	T	0.33	-3.8531	15.3785	0.74633	1.0:0.0:0.0:0.0	.	623	Q6N069	NAA16_HUMAN	H	623	ENSP00000368716:N623H	ENSP00000368716:N623H	N	+	1	0	NAA16	40841339	1.000000	0.71417	0.943000	0.38184	0.955000	0.61496	6.369000	0.73109	2.032000	0.59987	0.533000	0.62120	AAT		0.358	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		20	27	0	0	0	1	0	20	27					C	41943339	A	C	41943339	3	2	48	1	0	0	0	0	1	0	0	0	10128	14	1	4	1958	4	NAA16	13	41943339	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	10291	41943339	73226539	3178	7646										
KIAA0564	23078	broad.mit.edu	37	chr13	42361621	42361621	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attgtcatcagtatttatttCtattgtagcatctgccagat	6	7	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:42361621C>A	ENST00000379310.3	-	18	2190	c.2122G>T	c.(2122-2124)Gaa>Taa	p.E708*	VWA8_ENST00000281496.6_Nonsense_Mutation_p.E708*	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	708						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										GTATTTATTTCTATTGTAGCA	0.353																																						ENST00000379310.3																			0											c.(2122-2124)Gaa>Taa		von Willebrand factor A domain containing 8							70	74	73					13																	42361621		2203	4299	6502	SO:0001587	stop_gained	23078							g.chr13:42361621C>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.2122G>T	13.37:g.42361621C>A	ENSP00000368612:p.Glu708*		Somatic				VWA8_ENST00000281496.6_Nonsense_Mutation_p.E708*	p.E708*	NM_015058.1	NP_055873.1	WXS	Illumina GAIIx	Phase_I					18	2190	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Nonsense_Mutation	SNP	ENST00000379310.3	37	c.2122G>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	39	7.776612	0.98483	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	.	.	.	5.13	5.13	0.70059	.	0.244160	0.41194	D	0.000937	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	17.7196	0.88347	0.0:1.0:0.0:0.0	.	.	.	.	X	612;708;708	.	ENSP00000251030:E612X	E	-	1	0	KIAA0564	41259621	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	2.705000	0.47127	2.551000	0.86045	0.655000	0.94253	GAA		0.353	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		10	20	1	0	7.03913e-09	1	8.36985e-09	10	20					A	42361621	C	A	42361621	4	1	48	1	0	0	0	0	0	1	0	0	8194	922	32	2	3711	2	KIAA0564	13	42361621	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	418282	42361621	72808257	3179	7647										
TSC22D1	8848	broad.mit.edu	37	chr13	45148935	45148935	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttttcatagaactcagtgcAagtccatctaccttttttaa	4	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:45148935A>G	ENST00000458659.2	-	1	1766	c.1276T>C	c.(1276-1278)Tgc>Cgc	p.C426R	TSC22D1_ENST00000501704.2_Missense_Mutation_p.C426R|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	426					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AACTCAGTGCAAGTCCATCTA	0.403																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1276-1278)Tgc>Cgc		TSC22 domain family, member 1							132	126	128					13																	45148935		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148935A>G	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1276T>C	13.37:g.45148935A>G	ENSP00000397435:p.Cys426Arg		Somatic				TSC22D1_ENST00000501704.2_Missense_Mutation_p.C426R	p.C426R	NM_183422.3	NP_904358.2	WXS	Illumina GAIIx	Phase_I	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1766	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	426					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.1276T>C	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.074731	0.55646	.	.	ENSG00000102804	ENST00000458659;ENST00000501704	D	0.91521	-2.86	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000003	D	0.94522	0.8236	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.94877	0.8035	10	0.66056	D	0.02	.	13.141	0.59434	1.0:0.0:0.0:0.0	.	426;426	B3KRL7;Q15714	.;T22D1_HUMAN	R	426	ENSP00000397435:C426R	ENSP00000397435:C426R	C	-	1	0	TSC22D1	44046935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	1.985000	0.57927	0.459000	0.35465	TGC		0.403	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		33	48	0	0	0	1	0	33	48					G	45148935	A	G	45148935	3	3	48	1	0	0	0	0	1	0	0	0	16622	130	5	4	2086	4	TSC22D1	13	45148935	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2787314	45148935	70020943	3180	7648										
KCTD4	386618	broad.mit.edu	37	chr13	45768375	45768375	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaattctgcttcttgtgcaaGaagttgattttctcgaaacc	8	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:45768375G>T	ENST00000379108.1	-	1	477	c.328C>A	c.(328-330)Ctt>Att	p.L110I	KCTD4_ENST00000405872.1_Missense_Mutation_p.L110I|GTF2F2_ENST00000340473.6_Intron			Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	110	BTB.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TCTTGTGCAAGAAGTTGATTT	0.443																																						ENST00000405872.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						c.(328-330)Ctt>Att		potassium channel tetramerization domain containing 4							105	102	103					13																	45768375		2203	4300	6503	SO:0001583	missense	386618					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr13:45768375G>T	BC018063	CCDS9396.1	13q14.12-q14.13	2013-06-20	2013-06-20		ENSG00000180332	ENSG00000180332			23227	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 4"				Standard	NM_198404		Approved	bA321C24.3	uc001uzx.4	Q8WVF5	OTTHUMG00000016844	ENST00000379108.1:c.328C>A	13.37:g.45768375G>T	ENSP00000368402:p.Leu110Ile		Somatic				KCTD4_ENST00000379108.1_Missense_Mutation_p.L110I|GTF2F2_ENST00000340473.6_Intron	p.L110I	NM_198404.2	NP_940686.2	WXS	Illumina GAIIx	Phase_I	Q8WVF5	KCTD4_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)	2	731	-		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	110			BTB.		Q5W0P9	Missense_Mutation	SNP	ENST00000379108.1	37	c.328C>A	CCDS9396.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.467857	0.63625	.	.	ENSG00000180332	ENST00000379108;ENST00000405872	T;T	0.57752	0.38;0.38	6.05	6.05	0.98169	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.63331	0.2502	L	0.48362	1.52	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.64326	-0.6434	10	0.62326	D	0.03	.	8.9097	0.35546	0.1558:0.0:0.8441:0.0	.	110	Q8WVF5	KCTD4_HUMAN	I	110	ENSP00000368402:L110I;ENSP00000385144:L110I	ENSP00000368402:L110I	L	-	1	0	KCTD4	44666375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.987000	0.56944	2.880000	0.98712	0.655000	0.94253	CTT		0.443	KCTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044757.1			30	54	1	0	1.2476e-16	1	1.66396e-16	30	54					T	45768375	G	T	45768375	3	4	48	1	0	0	0	0	1	0	0	0	8120	942	33	2	455	2	KCTD4	13	45768375	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	619440	45768375	69401503	3181	7649										
SPERT	220082	broad.mit.edu	37	chr13	46276932	46276933	+	Frame_Shift_Ins	INS	-	-	A													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaaggccaaattatacaagINSaaaaagagataccagatctg							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:46276932_46276933insA	ENST00000310521.1	+	2	178_179	c.98_99insA	c.(97-102)agaaaafs	p.RK33fs	SPERT_ENST00000378966.3_5'Flank	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	33						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AATTATACAAGAAAAAGAGATA	0.426																																						ENST00000310521.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(97-99)aaafs		spermatid associated																																				SO:0001589	frameshift_variant	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46276932_46276933insA	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"spermatid flower-like structure protein", "testis specific leucine zipper protein nurit", "chibby homolog 2 (Drosophila)"					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.103dupA	13.37:g.46276937_46276937dupA	ENSP00000309189:p.Arg33fs		Somatic					p.K33fs	NM_152719.1	NP_689932.1	WXS	Illumina GAIIx	Phase_I	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	178_179	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	33					A8K8I5|Q8NHV2	Frame_Shift_Ins	INS	ENST00000310521.1	37	c.98_99insA	CCDS9399.1																																																																																				0.426	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		9	22						9	22	---	---	---	---	A	46276933	-	A	46276932	7	5	48	1	0	1	1	0	0	0	0	0	15054	942	33	0	104	0	SPERT	13	46276932	Frame_Shift_Ins	INS	-	TCGA-ND-A4WC-01A-21D-A28R-08	508557	46276932	68892946	3182	7650										
C13orf18	80183	broad.mit.edu	37	chr13	46942916	46942916	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acctctggtgagaaggaattCgaagaaatggttcttctact	10	7	3	2	rs143042360	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:46942916C>T	ENST00000429979.1	-	4	1174	c.570G>A	c.(568-570)tcG>tcA	p.S190S	KIAA0226L_ENST00000409879.2_Silent_p.S33S|KIAA0226L_ENST00000378781.3_Silent_p.S190S|KIAA0226L_ENST00000378797.2_Silent_p.S190S|KIAA0226L_ENST00000322896.6_Silent_p.S33S|KIAA0226L_ENST00000378787.3_Silent_p.S190S|KIAA0226L_ENST00000389908.3_Silent_p.S190S|KIAA0226L_ENST00000378784.4_Silent_p.S123S|KIAA0226L_ENST00000534925.1_Silent_p.S55S	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	190								p.S190S(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AGAAGGAATTCGAAGAAATGG	0.343													C|||	3	0.000599042	0	0	5008	,	,		16557	0		0	False		,,,				2504	0.0031					ENST00000429979.1																			1	Substitution - coding silent(1)	p.S190S(1)	large_intestine(1)	NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(568-570)tcG>tcA		KIAA0226-like		C		4,4402	8.1+/-20.4	0,4,2199	129	132	131		570	3.3	1	13	dbSNP_134	131	0,8600		0,0,4300	no	coding-synonymous	KIAA0226L	NM_025113.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		190/663	46942916	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	80183							g.chr13:46942916C>T	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.570G>A	13.37:g.46942916C>T			Somatic				KIAA0226L_ENST00000378797.2_Silent_p.S190S|KIAA0226L_ENST00000378787.3_Silent_p.S190S|KIAA0226L_ENST00000534925.1_Silent_p.S55S|KIAA0226L_ENST00000378784.4_Silent_p.S123S|KIAA0226L_ENST00000409879.2_Silent_p.S33S|KIAA0226L_ENST00000389908.3_Silent_p.S190S|KIAA0226L_ENST00000322896.6_Silent_p.S33S|KIAA0226L_ENST00000378781.3_Silent_p.S190S	p.S190S	NM_025113.2	NP_079389.2	WXS	Illumina GAIIx	Phase_I	Q9H714	CM018_HUMAN			4	1174	-			190					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Silent	SNP	ENST00000429979.1	37	c.570G>A	CCDS31970.2																																																																																				0.343	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		30	60	0	0	0	1	0	30	60					T	46942916	C	T	46942916	2	4	48	1	0	0	0	0	0	0	0	1	1722	871	31	1		1	C13orf18	13	46942916	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	665984	46942916	68226962	3183	7651										
MED4	29079	broad.mit.edu	37	chr13	48654089	48654089	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttctcatctctaaatcagtTgggtagggtctccgggggtc	12	10	4	0	rs149158920	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:48654089T>C	ENST00000258648.2	-	6	556	c.531A>G	c.(529-531)ccA>ccG	p.P177P	MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000378586.1_Silent_p.P131P|MED4_ENST00000495013.1_5'UTR	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	177					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)		CTAAATCAGTTGGGTAGGGTC	0.388																																					Pancreas(38;399 1016 9170 13426 20145)	ENST00000258648.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						c.(529-531)ccA>ccG		mediator complex subunit 4		T		1,4405	2.1+/-5.4	0,1,2202	90	85	86		531	3.1	1	13	dbSNP_134	86	13,8587	9.8+/-36.6	0,13,4287	no	coding-synonymous	MED4	NM_014166.2		0,14,6489	CC,CT,TT		0.1512,0.0227,0.1076		177/271	48654089	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	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.chr13:48654089T>C	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.531A>G	13.37:g.48654089T>C			Somatic				MED4_ENST00000495013.1_5'UTR|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000378586.1_Silent_p.P131P	p.P177P	NM_014166.2	NP_054885.1	WXS	Illumina GAIIx	Phase_I	Q9NPJ6	MED4_HUMAN		GBM - Glioblastoma multiforme(144;5.18e-07)	6	556	-		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)	177					B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Silent	SNP	ENST00000258648.2	37	c.531A>G	CCDS9408.1																																																																																				0.388	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166		17	37	0	0	0	1	0	17	37					C	48654089	T	C	48654089	2	2	48	1	0	0	0	0	0	0	0	1	9459	1799	63	4		4	MED4	13	48654089	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1711173	48654089	66515789	3184	7652										
RB1	5925	broad.mit.edu	37	chr13	48937070	48937070	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttattgaagttctctgtaaaGaacatgaatgtaatatagat	7	3	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:48937070G>T	ENST00000267163.4	+	8	976	c.838G>T	c.(838-840)Gaa>Taa	p.E280*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	280					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)|p.E280*(2)		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)"	TCTCTGTAAAGAACATGAATG	0.333		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		23	Whole gene deletion(15)|Unknown(6)|Substitution - Nonsense(2)	p.0?(15)|p.?(6)|p.E280*(2)	bone(11)|breast(5)|large_intestine(2)|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	GRCh37	CM025387	RB1	M		c.(838-840)Gaa>Taa		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						72	79	76					13																	48937070		2203	4300	6503	SO:0001587	stop_gained	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.chr13:48937070G>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.838G>T	13.37:g.48937070G>T	ENSP00000267163:p.Glu280*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	Somatic					p.E280*	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)	8	976	+		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)	280					A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.838G>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002411	0.93227	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	6.17	6.17	0.99709	.	0.052818	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5813	0.61905	0.0738:0.0:0.9262:0.0	.	.	.	.	X	259;280	.	.	E	+	1	0	RB1	47835071	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.641000	0.61375	2.941000	0.99782	0.655000	0.94253	GAA		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			22	41	1	0	1.28384e-07	1	1.48174e-07	22	41					T	48937070	G	T	48937070	4	4	48	1	0	0	0	0	0	1	0	0	13113	943	33	2	868	2	RB1	13	48937070	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	282981	48937070	66232808	3185	7653										
RB1	5925	broad.mit.edu	37	chr13	48955517	48955517	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagaaggcaacttgacaagaGaaatgataaaacatttagaa	8	5	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:48955517G>T	ENST00000267163.4	+	17	1771	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	545	Domain A.|Pocket; binds T and E1A.				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.?(8)		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)"	CTTGACAAGAGAAATGATAAA	0.338		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"D, Mis, N, F, S"	retinoblastoma gene			"L, E, M, O"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"		23	Whole gene deletion(15)|Unknown(8)	p.0?(15)|p.?(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(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	GRCh37	CM040262	RB1	M		c.(1633-1635)Gaa>Taa		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						84	78	80					13																	48955517		2203	4300	6503	SO:0001587	stop_gained	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.chr13:48955517G>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1633G>T	13.37:g.48955517G>T	ENSP00000267163:p.Glu545*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	Somatic					p.E545*	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)	17	1771	+		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)	545			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1633G>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	40	7.915889	0.98560	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.34	5.34	0.76211	.	0.110422	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.0281	0.92941	0.0:0.0:1.0:0.0	.	.	.	.	X	524;545	.	ENSP00000267163:E545X	E	+	1	0	RB1	47853518	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.488000	0.83962	0.650000	0.86243	GAA		0.338	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			8	22	1	0	0.0381472	1	0.0387537	8	22					T	48955517	G	T	48955517	4	4	48	1	0	0	0	0	0	1	0	0	13113	943	33	2	1699	2	RB1	13	48955517	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	18447	48955517	66214361	3186	7654										
CYSLTR2	57105	broad.mit.edu	37	chr13	49281071	49281071	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgaaaacttcaagagagaaTttttcccaattgtatatctg	6	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:49281071T>G	ENST00000282018.3	+	1	121	c.118T>G	c.(118-120)Ttt>Gtt	p.F40V		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	40					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CAAGAGAGAATTTTTCCCAAT	0.398																																						ENST00000282018.3																			0				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(118-120)Ttt>Gtt		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						84	89	87					13																	49281071		2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281071T>G	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"GPCR / Class A : Leukotriene receptors"	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.118T>G	13.37:g.49281071T>G	ENSP00000282018:p.Phe40Val		Somatic					p.F40V	NM_020377.2	NP_065110.1	WXS	Illumina GAIIx	Phase_I	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	121	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	40					Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.118T>G	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	T	0.033	-1.320718	0.01320	.	.	ENSG00000152207	ENST00000282018	T	0.35789	1.29	6.08	4.83	0.62350	.	0.174316	0.37219	N	0.002199	T	0.16041	0.0386	N	0.08118	0	0.34215	D	0.674776	B	0.23128	0.08	B	0.18871	0.023	T	0.19778	-1.0295	10	0.21540	T	0.41	.	6.248	0.20830	0.2149:0.0:0.1326:0.6525	.	40	Q9NS75	CLTR2_HUMAN	V	40	ENSP00000282018:F40V	ENSP00000282018:F40V	F	+	1	0	CYSLTR2	48179072	0.955000	0.32602	0.791000	0.31998	0.224000	0.24922	1.565000	0.36386	2.333000	0.79357	0.533000	0.62120	TTT		0.398	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			16	36	0	0	0	1	0	16	36					G	49281071	T	G	49281071	3	3	48	1	0	0	0	0	1	0	0	0	4204	1493	52	4	120	4	CYSLTR2	13	49281071	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	325554	49281071	65888807	3187	7655										
FNDC3A	22862	broad.mit.edu	37	chr13	49776035	49776035	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attcaagcttgtaatgaagcTggggaaggtcccctctccca	10	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:49776035T>C	ENST00000492622.2	+	24	3392	c.3087T>C	c.(3085-3087)gcT>gcC	p.A1029A	FNDC3A_ENST00000398316.3_Silent_p.A973A|FNDC3A_ENST00000541916.1_Silent_p.A1029A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1029	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GTAATGAAGCTGGGGAAGGTC	0.373																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(3085-3087)gcT>gcC		fibronectin type III domain containing 3A							83	85	84					13																	49776035		2203	4300	6503	SO:0001819	synonymous_variant	22862					Golgi membrane|integral to membrane		g.chr13:49776035T>C	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.3087T>C	13.37:g.49776035T>C			Somatic				FNDC3A_ENST00000541916.1_Silent_p.A1029A|FNDC3A_ENST00000398316.3_Silent_p.A973A	p.A1029A	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	3392	+		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)	1029			Fibronectin type-III 8.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	ENST00000492622.2	37	c.3087T>C	CCDS41886.1																																																																																				0.373	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		12	21	0	0	0	1	0	12	21					C	49776035	T	C	49776035	2	2	48	1	0	0	0	0	0	0	0	1	5977	1567	55	4		4	FNDC3A	13	49776035	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	494964	49776035	65393843	3188	7656										
CDADC1	81602	broad.mit.edu	37	chr13	49841919	49841919	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaataaaagaatatgaaatgTtatttttggtttcaaatgaa	7	1	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:49841919T>A	ENST00000251108.6	+	5	837	c.724T>A	c.(724-726)Tta>Ata	p.L242I	CDADC1_ENST00000444959.1_Missense_Mutation_p.L44I	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	242							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		ATATGAAATGTTATTTTTGGT	0.289																																						ENST00000251108.6																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16						c.(724-726)Tta>Ata		cytidine and dCMP deaminase domain containing 1							46	46	46					13																	49841919		2203	4300	6503	SO:0001583	missense	81602						hydrolase activity|zinc ion binding	g.chr13:49841919T>A	AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.724T>A	13.37:g.49841919T>A	ENSP00000251108:p.Leu242Ile		Somatic				CDADC1_ENST00000444959.1_Missense_Mutation_p.L44I	p.L242I	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	WXS	Illumina GAIIx	Phase_I	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	5	837	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	242					Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	ENST00000251108.6	37	c.724T>A	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.116885	0.37339	.	.	ENSG00000102543	ENST00000251108;ENST00000444959	.	.	.	5.53	-6.56	0.01848	.	0.678936	0.14405	N	0.321605	T	0.14399	0.0348	N	0.19112	0.55	0.22787	N	0.998735	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.08330	-1.0727	9	0.42905	T	0.14	-0.7634	1.0152	0.01505	0.4075:0.1887:0.101:0.3028	.	242;242	Q9BWV3;B2R742	CDAC1_HUMAN;.	I	242;44	.	ENSP00000251108:L242I	L	+	1	2	CDADC1	48739920	0.996000	0.38824	0.654000	0.29608	0.947000	0.59692	0.257000	0.18369	-1.280000	0.02402	-0.301000	0.09380	TTA		0.289	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911		6	15	0	0	0	1	0	6	15					A	49841919	T	A	49841919	3	1	48	1	0	0	0	0	1	0	0	0	3055	1722	60	4	742	4	CDADC1	13	49841919	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	65884	49841919	65327959	3189	7657										
ARL11	115761	broad.mit.edu	37	chr13	50204716	50204716	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggagaccctgcccactgttGgtttcaacgtggagcctctg	12	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:50204716G>T	ENST00000282026.1	+	2	468	c.133G>T	c.(133-135)Ggt>Tgt	p.G45C	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	45					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GCCCACTGTTGGTTTCAACGT	0.622																																						ENST00000282026.1																			0				kidney(1)|large_intestine(4)|ovary(1)	6						c.(133-135)Ggt>Tgt		ADP-ribosylation factor-like 11							56	56	56					13																	50204716		2203	4300	6503	SO:0001583	missense	115761				small GTPase mediated signal transduction	intracellular	GTP binding|protein binding	g.chr13:50204716G>T	AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.133G>T	13.37:g.50204716G>T	ENSP00000282026:p.Gly45Cys		Somatic				ARL11_ENST00000490932.1_Intron	p.G45C	NM_138450.5	NP_612459.1	WXS	Illumina GAIIx	Phase_I	Q969Q4	ARL11_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)	2	468	+		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	45						Missense_Mutation	SNP	ENST00000282026.1	37	c.133G>T	CCDS9419.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904158	0.92035	.	.	ENSG00000152213	ENST00000282026	D	0.86497	-2.13	5.31	5.31	0.75309	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96555	0.8876	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98350	1.0543	10	0.87932	D	0	-21.3884	17.9808	0.89140	0.0:0.0:1.0:0.0	.	45	Q969Q4	ARL11_HUMAN	C	45	ENSP00000282026:G45C	ENSP00000282026:G45C	G	+	1	0	ARL11	49102717	1.000000	0.71417	0.832000	0.32986	0.916000	0.54674	9.465000	0.97660	2.487000	0.83934	0.655000	0.94253	GGT		0.622	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450		28	56	1	0	4.22769e-11	1	5.2466e-11	28	56					T	50204716	G	T	50204716	3	4	48	1	0	0	0	0	1	0	0	0	927	1348	47	5	135	5	ARL11	13	50204716	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	362797	50204716	64965162	3190	7658										
CCDC70	83446	broad.mit.edu	37	chr13	52439882	52439882	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaagagaaaactttctggaAaaagtaccgcactttctgga	10	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52439882A>C	ENST00000242819.4	+	2	664	c.368A>C	c.(367-369)aAa>aCa	p.K123T		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	123						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)		ACTTTCTGGAAAAAGTACCGC	0.468																																						ENST00000242819.4																			0				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15						c.(367-369)aAa>aCa		coiled-coil domain containing 70							103	119	114					13																	52439882		2203	4300	6503	SO:0001583	missense	83446					extracellular region|plasma membrane		g.chr13:52439882A>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.368A>C	13.37:g.52439882A>C	ENSP00000242819:p.Lys123Thr		Somatic					p.K123T	NM_031290.2	NP_112580.2	WXS	Illumina GAIIx	Phase_I	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	664	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	123					Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	c.368A>C	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	A	8.301	0.820015	0.16678	.	.	ENSG00000123171	ENST00000242819	T	0.19938	2.11	5.93	-1.29	0.09288	.	0.436968	0.21812	N	0.068741	T	0.15869	0.0382	M	0.65975	2.015	0.09310	N	1	B	0.28258	0.205	B	0.21917	0.037	T	0.14476	-1.0471	10	0.29301	T	0.29	-3.5966	4.2854	0.10853	0.5102:0.0:0.1364:0.3534	.	123	Q6NSX1	CCD70_HUMAN	T	123	ENSP00000242819:K123T	ENSP00000242819:K123T	K	+	2	0	CCDC70	51337883	0.978000	0.34361	0.000000	0.03702	0.002000	0.02628	2.221000	0.42917	-0.080000	0.12685	0.533000	0.62120	AAA		0.468	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		65	118	0	0	0	1	0	65	118					C	52439882	A	C	52439882	3	2	48	1	0	0	0	0	1	0	0	0	2845	14	1	4	370	4	CCDC70	13	52439882	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2235166	52439882	62729996	3191	7659										
ATP7B	540	broad.mit.edu	37	chr13	52548571	52548571	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacaatgcattccatctattCtcagttggagggtgaccaca	8	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52548571C>A	ENST00000242839.4	-	2	941	c.785G>T	c.(784-786)aGa>aTa	p.R262I	ATP7B_ENST00000448424.2_Missense_Mutation_p.R262I|ATP7B_ENST00000400366.3_Missense_Mutation_p.R262I|ATP7B_ENST00000400370.3_Missense_Mutation_p.R262I|ATP7B_ENST00000344297.5_Missense_Mutation_p.R262I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Missense_Mutation_p.R262I|ATP7B_ENST00000542656.1_Missense_Mutation_p.R230I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	262	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)	TCCATCTATTCTCAGTTGGAG	0.418									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.(784-786)aGa>aTa		ATPase, Cu++ transporting, beta polypeptide							100	95	97					13																	52548571		1854	4100	5954	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.chr13:52548571C>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.785G>T	13.37:g.52548571C>A	ENSP00000242839:p.Arg262Ile		Somatic				ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Missense_Mutation_p.R262I|ATP7B_ENST00000400366.3_Missense_Mutation_p.R262I|ATP7B_ENST00000418097.2_Missense_Mutation_p.R262I|ATP7B_ENST00000542656.1_Missense_Mutation_p.R230I|ATP7B_ENST00000344297.5_Missense_Mutation_p.R262I|ATP7B_ENST00000448424.2_Missense_Mutation_p.R262I	p.R262I	NM_000053.3	NP_000044.2	WXS	Illumina GAIIx	Phase_I	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	2	941	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	262			HMA 3.		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.785G>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931800	0.34096	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097;ENST00000542656	D;D;D;D;D;D;D	0.87256	-2.21;-2.23;-2.21;-2.21;-2.21;-2.21;-2.21	6.02	4.26	0.50523	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.914538	0.09621	N	0.777600	D	0.87075	0.6087	N	0.20304	0.555	0.18873	N	0.999981	P;B;B;B;D;B;D;B	0.63880	0.886;0.021;0.002;0.34;0.993;0.336;0.958;0.006	P;B;B;B;D;B;P;B	0.66716	0.847;0.044;0.026;0.257;0.946;0.113;0.815;0.014	T	0.75923	-0.3146	10	0.33940	T	0.23	0.0359	9.5557	0.39337	0.0:0.7529:0.123:0.1241	.	230;262;262;262;262;262;262;262	F6XIH0;E7ET55;B7ZLR4;F5H748;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	I	262;262;262;262;262;262;230	ENSP00000242839:R262I;ENSP00000383217:R262I;ENSP00000342559:R262I;ENSP00000416738:R262I;ENSP00000383221:R262I;ENSP00000393343:R262I;ENSP00000443128:R230I	ENSP00000242839:R262I	R	-	2	0	ATP7B	51446572	0.002000	0.14202	0.006000	0.13384	0.934000	0.57294	1.541000	0.36126	1.527000	0.49086	0.655000	0.94253	AGA		0.418	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		24	66	1	0	2.52088e-20	1	3.4514e-20	24	66					A	52548571	C	A	52548571	3	1	48	1	0	0	0	0	1	0	0	0	1191	913	32	2	3692	2	ATP7B	13	52548571	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	108689	52548571	62621307	3192	7660										
UTP14C	9724	broad.mit.edu	37	chr13	52604309	52604309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcagccaggaggtgctgtccGaattgagggcactatctcag	14	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52604309G>A	ENST00000521776.2	+	2	2102	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	457					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)		p.E457K(1)		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)		GGTGCTGTCCGAATTGAGGGC	0.483																																						ENST00000521776.2																			1	Substitution - Missense(1)	p.E457K(1)	large_intestine(1)	breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(1369-1371)Gaa>Aaa		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							85	89	88					13																	52604309		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52604309G>A	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1369G>A	13.37:g.52604309G>A	ENSP00000428619:p.Glu457Lys		Somatic					p.E457K	NM_021645.5	NP_067677.4	WXS	Illumina GAIIx	Phase_I	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	2102	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	457					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.1369G>A	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506827	0.26949	.	.	ENSG00000253797	ENST00000521776	T	0.19669	2.13	2.91	0.999	0.19862	.	0.255939	0.44097	D	0.000500	T	0.16385	0.0394	L	0.58583	1.82	0.09310	N	1	B	0.24258	0.1	B	0.23852	0.049	T	0.18053	-1.0349	9	.	.	.	-8.3867	3.9895	0.09530	0.1497:0.2481:0.6022:0.0	.	457	Q5TAP6	UT14C_HUMAN	K	457	ENSP00000428619:E457K	.	E	+	1	0	UTP14C	51502310	0.000000	0.05858	0.183000	0.23137	0.052000	0.14988	-0.742000	0.04850	0.082000	0.17018	0.462000	0.41574	GAA		0.483	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		50	101	0	0	0	1	0	50	101					A	52604309	G	A	52604309	3	1	48	1	0	0	0	0	1	0	0	0	17111	1059	37	1	1371	1	UTP14C	13	52604309	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	55738	52604309	62565569	3193	7661										
THSD1	55901	broad.mit.edu	37	chr13	52971819	52971819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caagttctgtccttttgctgGttcttatttccagcggctgt	9	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52971819G>A	ENST00000258613.4	-	3	747	c.569C>T	c.(568-570)aCc>aTc	p.T190I	RNY4P24_ENST00000362735.1_RNA|THSD1_ENST00000544466.1_Intron|THSD1_ENST00000349258.4_Missense_Mutation_p.T190I	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	190					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)		CCTTTTGCTGGTTCTTATTTC	0.517																																						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.(568-570)aCc>aTc		thrombospondin, type I, domain containing 1							80	68	72					13																	52971819		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52971819G>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.569C>T	13.37:g.52971819G>A	ENSP00000258613:p.Thr190Ile		Somatic				THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.T190I	p.T190I	NM_199263.2	NP_954872.1	WXS	Illumina GAIIx	Phase_I	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	3	1113	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	190					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.569C>T	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	G	7.552	0.662807	0.14710	.	.	ENSG00000136114	ENST00000349258;ENST00000258613;ENST00000378095	T;T	0.18960	2.18;2.32	5.54	-1.42	0.08913	.	0.898609	0.09711	N	0.765693	T	0.13200	0.0320	N	0.21097	0.63	0.09310	N	1	B;B	0.23735	0.002;0.09	B;B	0.23018	0.007;0.043	T	0.32851	-0.9891	10	0.30854	T	0.27	-0.6871	10.1656	0.42877	0.1361:0.4082:0.4557:0.0	.	190;190	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	I	190	ENSP00000340650:T190I;ENSP00000258613:T190I	ENSP00000258613:T190I	T	-	2	0	THSD1	51869820	0.997000	0.39634	0.016000	0.15963	0.659000	0.38960	0.447000	0.21710	-0.215000	0.10063	0.561000	0.74099	ACC		0.517	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			15	38	0	0	0	1	0	15	38					A	52971819	G	A	52971819	3	1	48	1	0	0	0	0	1	0	0	0	15892	1261	44	3	2001	3	THSD1	13	52971819	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	367510	52971819	62198059	3194	7662										
PCDH8	5100	broad.mit.edu	37	chr13	53419685	53419685	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acttctctgcttctctgccaGaaatggtgttgaaggagtgt	11	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:53419685G>T	ENST00000377942.3	-	2	2917	c.2714C>A	c.(2713-2715)tCt>tAt	p.S905Y	PCDH8_ENST00000338862.4_Missense_Mutation_p.S808Y	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	905					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTCTCTGCCAGAAATGGTGTT	0.577																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(2713-2715)tCt>tAt		protocadherin 8							116	93	101					13																	53419685		2203	4300	6503	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53419685G>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2714C>A	13.37:g.53419685G>T	ENSP00000367177:p.Ser905Tyr		Somatic				PCDH8_ENST00000338862.4_Missense_Mutation_p.S808Y	p.S905Y	NM_002590.3	NP_002581.2	WXS	Illumina GAIIx	Phase_I	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	2	2917	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	905					B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.2714C>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571505	0.45798	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	D;D	0.95035	-3.59;-3.59	4.81	3.95	0.45737	.	0.000000	0.38492	N	0.001676	D	0.92328	0.7566	L	0.27053	0.805	0.26124	N	0.980513	D;D	0.60160	0.987;0.978	P;P	0.60682	0.878;0.758	D	0.83365	0.0004	10	0.06365	T	0.9	.	12.402	0.55418	0.082:0.0:0.918:0.0	.	808;905	O95206-2;O95206	.;PCDH8_HUMAN	Y	905;808;431;748	ENSP00000367177:S905Y;ENSP00000341350:S808Y	ENSP00000341350:S808Y	S	-	2	0	PCDH8	52317686	1.000000	0.71417	0.916000	0.36221	0.352000	0.29268	8.017000	0.88712	2.188000	0.69820	0.462000	0.41574	TCT		0.577	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		5	54	1	0	0.014758	1	0.015099	5	54					T	53419685	G	T	53419685	3	4	48	1	0	0	0	0	1	0	0	0	11526	942	33	2	506	2	PCDH8	13	53419685	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	447866	53419685	61750193	3195	7663										
PCDH17	27253	broad.mit.edu	37	chr13	58206862	58206862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggcggagggcgcagcaagtCgggtagctaccgggtgctgg	20	10	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:58206862C>T	ENST00000377918.3	+	1	208	c.182C>T	c.(181-183)tCg>tTg	p.S61L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	61	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|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)		CGCAGCAAGTCGGGTAGCTAC	0.692																																					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.(181-183)tCg>tTg		protocadherin 17							23	24	24					13																	58206862		2203	4299	6502	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58206862C>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.182C>T	13.37:g.58206862C>T	ENSP00000367151:p.Ser61Leu		Somatic					p.S61L	NM_001040429.2	NP_001035519.1	WXS	Illumina GAIIx	Phase_I	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	208	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	61			Cadherin 1.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.182C>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.034329	0.54896	.	.	ENSG00000118946	ENST00000377918	T	0.29397	1.57	5.55	5.55	0.83447	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.100683	0.64402	D	0.000004	T	0.29620	0.0739	L	0.41415	1.275	0.51767	D	0.999936	B;B	0.31680	0.335;0.041	B;B	0.32090	0.14;0.005	T	0.02526	-1.1146	9	.	.	.	.	19.6982	0.96039	0.0:1.0:0.0:0.0	.	61;61	O14917-2;O14917	.;PCD17_HUMAN	L	61	ENSP00000367151:S61L	.	S	+	2	0	PCDH17	57104863	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	4.574000	0.60900	2.894000	0.99253	0.655000	0.94253	TCG		0.692	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		14	26	0	0	0	1	0	14	26					T	58206862	C	T	58206862	3	4	48	1	0	0	0	0	1	0	0	0	11521	893	31	1	184	1	PCDH17	13	58206862	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4787177	58206862	56963016	3196	7664										
PCDH20	64881	broad.mit.edu	37	chr13	61986041	61986041	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcattgatatctagaaggaGaattgtgatttttgctgtag	11	3	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:61986041G>T	ENST00000409186.1	-	5	4296	c.2191C>A	c.(2191-2193)Ctc>Atc	p.L731I	PCDH20_ENST00000409204.4_Missense_Mutation_p.L731I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	731	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)|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)		TCTAGAAGGAGAATTGTGATT	0.463																																						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.(2191-2193)Ctc>Atc		protocadherin 20							112	117	116					13																	61986041		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986041G>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.2191C>A	13.37:g.61986041G>T	ENSP00000386653:p.Leu731Ile		Somatic				PCDH20_ENST00000409204.4_Missense_Mutation_p.L731I	p.L731I			WXS	Illumina GAIIx	Phase_I	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	4296	-		Breast(118;0.195)|Prostate(109;0.229)	704			Cadherin 6.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.2191C>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762237	0.31228	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.01745	4.66;4.66	5.94	5.1	0.69264	.	0.218646	0.32258	N	0.006356	T	0.02767	0.0083	N	0.12569	0.235	0.54753	D	0.999984	D	0.61080	0.989	P	0.60117	0.869	T	0.71774	-0.4491	10	0.21540	T	0.41	.	11.1846	0.48648	0.1397:0.0:0.8603:0.0	.	731	A8K1K9	.	I	731;731;477	ENSP00000387250:L731I;ENSP00000386653:L731I	ENSP00000351500:L477I	L	-	1	0	PCDH20	60884042	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.710000	0.74670	1.526000	0.49068	-0.262000	0.10625	CTC		0.463	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		50	84	1	0	4.01344e-20	1	5.48555e-20	50	84					T	61986041	G	T	61986041	3	4	48	1	0	0	0	0	1	0	0	0	11524	942	33	2	668	2	PCDH20	13	61986041	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3779179	61986041	53183837	3197	7665										
PCDH20	64881	broad.mit.edu	37	chr13	61987061	61987061	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgagcttgtgggactccaGaacacttcctccaatcttac	9	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:61987061G>A	ENST00000409186.1	-	5	3276	c.1171C>T	c.(1171-1173)Ctg>Ttg	p.L391L	PCDH20_ENST00000409204.4_Silent_p.L391L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	391	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGGGACTCCAGAACACTTCCT	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.(1171-1173)Ctg>Ttg		protocadherin 20							101	99	99					13																	61987061		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987061G>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.1171C>T	13.37:g.61987061G>A			Somatic				PCDH20_ENST00000409204.4_Silent_p.L391L	p.L391L			WXS	Illumina GAIIx	Phase_I	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3276	-		Breast(118;0.195)|Prostate(109;0.229)	364			Cadherin 3.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.1171C>T	CCDS9442.2																																																																																				0.423	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		41	72	0	0	0	1	0	41	72					A	61987061	G	A	61987061	2	1	48	1	0	0	0	0	0	0	0	1	11524	933	33	3		3	PCDH20	13	61987061	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1020	61987061	53182817	3198	7666										
PCDH20	64881	broad.mit.edu	37	chr13	61987509	61987509	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgataggtctgtaccccattAatgcctacatctgggtccac	8	13	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:61987509A>C	ENST00000409186.1	-	5	2828	c.723T>G	c.(721-723)atT>atG	p.I241M	PCDH20_ENST00000409204.4_Missense_Mutation_p.I241M			Q8N6Y1	PCD20_HUMAN	protocadherin 20	241	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|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)		GTACCCCATTAATGCCTACAT	0.532																																						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.(721-723)atT>atG		protocadherin 20							106	92	97					13																	61987509		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987509A>C	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.723T>G	13.37:g.61987509A>C	ENSP00000386653:p.Ile241Met		Somatic				PCDH20_ENST00000409204.4_Missense_Mutation_p.I241M	p.I241M			WXS	Illumina GAIIx	Phase_I	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	2828	-		Breast(118;0.195)|Prostate(109;0.229)	214			Cadherin 2.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.723T>G	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	A	6.581	0.475584	0.12521	.	.	ENSG00000197991	ENST00000409204;ENST00000409186	T;T	0.51071	0.72;0.72	5.77	0.416	0.16416	.	0.623087	0.15772	N	0.245382	T	0.31888	0.0811	L	0.35487	1.065	0.21950	N	0.999457	B	0.27971	0.196	B	0.34452	0.183	T	0.19877	-1.0292	10	0.33940	T	0.23	.	2.8026	0.05419	0.3882:0.3798:0.1091:0.1229	.	241	A8K1K9	.	M	241	ENSP00000387250:I241M;ENSP00000386653:I241M	ENSP00000386653:I241M	I	-	3	3	PCDH20	60885510	0.028000	0.19301	0.849000	0.33467	0.979000	0.70002	-0.328000	0.07945	0.075000	0.16796	0.533000	0.62120	ATT		0.532	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		47	79	0	0	0	1	0	47	79					C	61987509	A	C	61987509	3	2	48	1	0	0	0	0	1	0	0	0	11524	358	13	4	2136	4	PCDH20	13	61987509	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	448	61987509	53182369	3199	7667										
PCDH9	5101	broad.mit.edu	37	chr13	67802265	67802265	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacactcattctcctcagcaTatgaggcgccagcacagagt	8	13	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:67802265T>G	ENST00000377865.2	-	1	442	c.308A>C	c.(307-309)tAt>tCt	p.Y103S	PCDH9_ENST00000377861.3_Missense_Mutation_p.Y103S|PCDH9_ENST00000456367.1_Missense_Mutation_p.Y103S|PCDH9_ENST00000544246.1_Missense_Mutation_p.Y103S|PCDH9_ENST00000328454.5_Missense_Mutation_p.Y103S			Q9HC56	PCDH9_HUMAN	protocadherin 9	103	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		CTCCTCAGCATATGAGGCGCC	0.438																																						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.(307-309)tAt>tCt		protocadherin 9							66	63	64					13																	67802265		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802265T>G	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.308A>C	13.37:g.67802265T>G	ENSP00000367096:p.Tyr103Ser		Somatic				PCDH9_ENST00000377861.3_Missense_Mutation_p.Y103S|PCDH9_ENST00000328454.5_Missense_Mutation_p.Y103S|PCDH9_ENST00000456367.1_Missense_Mutation_p.Y103S|PCDH9_ENST00000377865.2_Missense_Mutation_p.Y103S	p.Y103S	NM_203487.2	NP_982354.1	WXS	Illumina GAIIx	Phase_I	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	999	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	103			Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.308A>C	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	4.119	0.020250	0.08006	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.52295	0.73;0.73;0.67;0.67;0.68	6.07	6.07	0.98685	Cadherin, N-terminal (1);Cadherin (3);	0.108903	0.64402	D	0.000004	T	0.28200	0.0696	N	0.08118	0	0.47659	D	0.99948	B;B;B;B	0.29508	0.001;0.246;0.001;0.006	B;B;B;B	0.21360	0.0;0.034;0.01;0.028	T	0.13019	-1.0525	10	0.21540	T	0.41	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	103;103;103;103	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	S	103	ENSP00000442186:Y103S;ENSP00000367096:Y103S;ENSP00000401699:Y103S;ENSP00000332060:Y103S;ENSP00000367092:Y103S	ENSP00000332060:Y103S	Y	-	2	0	PCDH9	66700266	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	5.505000	0.66981	2.326000	0.78906	0.533000	0.62120	TAT		0.438	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		25	46	0	0	0	1	0	25	46					G	67802265	T	G	67802265	3	3	48	1	0	0	0	0	1	0	0	0	11527	1406	49	4	3421	4	PCDH9	13	67802265	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	5814756	67802265	47367613	3200	7668										
PCDH9	5101	broad.mit.edu	37	chr13	67802555	67802555	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcagagcagccaacaggtaAaaatccctcaggtccatgat	8	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:67802555A>C	ENST00000377865.2	-	1	152	c.18T>G	c.(16-18)ttT>ttG	p.F6L	PCDH9_ENST00000377861.3_Missense_Mutation_p.F6L|PCDH9_ENST00000456367.1_Missense_Mutation_p.F6L|PCDH9_ENST00000544246.1_Missense_Mutation_p.F6L|PCDH9_ENST00000328454.5_Missense_Mutation_p.F6L			Q9HC56	PCDH9_HUMAN	protocadherin 9	6					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)		CCAACAGGTAAAAATCCCTCA	0.398																																						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.(16-18)ttT>ttG		protocadherin 9							56	56	56					13																	67802555		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802555A>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.18T>G	13.37:g.67802555A>C	ENSP00000367096:p.Phe6Leu		Somatic				PCDH9_ENST00000377861.3_Missense_Mutation_p.F6L|PCDH9_ENST00000328454.5_Missense_Mutation_p.F6L|PCDH9_ENST00000456367.1_Missense_Mutation_p.F6L|PCDH9_ENST00000377865.2_Missense_Mutation_p.F6L	p.F6L	NM_203487.2	NP_982354.1	WXS	Illumina GAIIx	Phase_I	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	709	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	6					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.18T>G	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.088221	0.36855	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.50813	0.78;0.78;0.73;0.73;0.75	5.82	5.82	0.92795	.	0.312770	0.39985	N	0.001220	T	0.28665	0.0710	N	0.08118	0	0.58432	D	0.999997	B;B;B;B	0.18610	0.007;0.02;0.028;0.029	B;B;B;B	0.20767	0.009;0.021;0.031;0.015	T	0.15492	-1.0435	10	0.10902	T	0.67	.	16.182	0.81915	1.0:0.0:0.0:0.0	.	6;6;6;6	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	L	6	ENSP00000442186:F6L;ENSP00000367096:F6L;ENSP00000401699:F6L;ENSP00000332060:F6L;ENSP00000367092:F6L	ENSP00000332060:F6L	F	-	3	2	PCDH9	66700556	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.116000	0.77119	2.222000	0.72286	0.528000	0.53228	TTT		0.398	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		5	39	0	0	0	1	0	5	39					C	67802555	A	C	67802555	3	2	48	1	0	0	0	0	1	0	0	0	11527	11	1	4	3711	4	PCDH9	13	67802555	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	290	67802555	47367323	3201	7669										
PIBF1	10464	broad.mit.edu	37	chr13	73467988	73467988	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctccatcaaagtaaattaaaAtcttttgaaagtgagcgtgt	7	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:73467988A>C	ENST00000326291.6	+	11	1727	c.1389A>C	c.(1387-1389)aaA>aaC	p.K463N		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	463						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)		GTAAATTAAAATCTTTTGAAA	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.(1387-1389)aaA>aaC		progesterone immunomodulatory binding factor 1							70	71	71					13																	73467988		2203	4300	6503	SO:0001583	missense	10464					centrosome		g.chr13:73467988A>C	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.1389A>C	13.37:g.73467988A>C	ENSP00000317144:p.Lys463Asn		Somatic					p.K463N	NM_006346.2	NP_006337.2	WXS	Illumina GAIIx	Phase_I	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	11	1727	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	463					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.1389A>C	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.612251	0.66672	.	.	ENSG00000083535	ENST00000326291	T	0.34859	1.34	5.0	-0.426	0.12314	.	0.214304	0.47455	D	0.000230	T	0.50326	0.1609	M	0.71036	2.16	0.48185	D	0.999602	D;D	0.71674	0.998;0.993	D;P	0.66351	0.943;0.88	T	0.45804	-0.9236	10	0.21540	T	0.41	-26.4568	12.3919	0.55362	0.3803:0.0:0.6197:0.0	.	463;463	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	N	463	ENSP00000317144:K463N	ENSP00000317144:K463N	K	+	3	2	PIBF1	72365989	0.999000	0.42202	0.987000	0.45799	0.994000	0.84299	0.630000	0.24553	-0.250000	0.09555	0.528000	0.53228	AAA		0.348	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		13	32	0	0	0	1	0	13	32					C	73467988	A	C	73467988	3	2	48	1	0	0	0	0	1	0	0	0	11888	98	4	4	1427	4	PIBF1	13	73467988	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	5665433	73467988	41701890	3202	7670										
FBXL3	26224	broad.mit.edu	37	chr13	77581885	77581885	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtggtagttcagggctagttCtcttaagccgtgacactgat	12	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:77581885C>A	ENST00000355619.5	-	5	1006	c.682G>T	c.(682-684)Gaa>Taa	p.E228*	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	228					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	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(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		AGGGCTAGTTCTCTTAAGCCG	0.343																																						ENST00000355619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(682-684)Gaa>Taa		F-box and leucine-rich repeat protein 3							76	75	75					13																	77581885		2203	4300	6503	SO:0001587	stop_gained	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581885C>A	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"F-boxes / Leucine-rich repeats"	13599	protein-coding gene	gene with protein product		605653	"F-box and leucine-rich repeat protein 3A"	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.682G>T	13.37:g.77581885C>A	ENSP00000347834:p.Glu228*		Somatic				FBXL3_ENST00000477982.1_Intron	p.E228*	NM_012158.2	NP_036290.1	WXS	Illumina GAIIx	Phase_I	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1006	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	228					B2RB04|Q9P122	Nonsense_Mutation	SNP	ENST00000355619.5	37	c.682G>T	CCDS9457.1	.	.	.	.	.	.	.	.	.	.	C	37	6.107474	0.97291	.	.	ENSG00000005812	ENST00000355619;ENST00000417323	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-21.1489	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	228;180	.	ENSP00000347834:E228X	E	-	1	0	FBXL3	76479886	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.487000	0.81328	2.882000	0.98803	0.655000	0.94253	GAA		0.343	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			4	36	1	0	2.56e-06	1	2.86294e-06	4	36					A	77581885	C	A	77581885	4	1	48	1	0	0	0	0	0	1	0	0	5728	922	32	2	608	2	FBXL3	13	77581885	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4113897	77581885	37587993	3203	7671										
SCEL	8796	broad.mit.edu	37	chr13	78130826	78130826	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacaggataacagttggataAagaaacgccctgaagaagaa	10	6	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:78130826A>C	ENST00000349847.3	+	3	223	c.139A>C	c.(139-141)Aag>Cag	p.K47Q	SCEL_ENST00000377246.3_Missense_Mutation_p.K47Q|SCEL_ENST00000535157.1_Missense_Mutation_p.K47Q	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	47					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)		CAGTTGGATAAAGAAACGCCC	0.468																																						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.(139-141)Aag>Cag		sciellin							102	109	107					13																	78130826		2203	4300	6503	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78130826A>C	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.139A>C	13.37:g.78130826A>C	ENSP00000302579:p.Lys47Gln		Somatic				SCEL_ENST00000377246.3_Missense_Mutation_p.K47Q|SCEL_ENST00000349847.3_Missense_Mutation_p.K47Q	p.K47Q	NM_001160706.1	NP_001154178.1	WXS	Illumina GAIIx	Phase_I	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	3	309	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	47					B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.139A>C	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.292788	0.80914	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.21734	1.99;1.99;1.99	5.3	5.3	0.74995	.	0.111307	0.40469	N	0.001085	T	0.46249	0.1383	M	0.74258	2.255	0.41287	D	0.986958	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.49184	-0.8966	10	0.72032	D	0.01	-19.6859	13.0641	0.59024	1.0:0.0:0.0:0.0	.	47;47;47	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	Q	47	ENSP00000437895:K47Q;ENSP00000366454:K47Q;ENSP00000302579:K47Q	ENSP00000315127:K47Q	K	+	1	0	SCEL	77028827	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.119000	0.64679	2.125000	0.65367	0.460000	0.39030	AAG		0.468	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		16	126	0	0	0	1	0	16	126					C	78130826	A	C	78130826	3	2	48	1	0	0	0	0	1	0	0	0	13903	15	1	4	145	4	SCEL	13	78130826	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	548941	78130826	37039052	3204	7672										
SCEL	8796	broad.mit.edu	37	chr13	78173503	78173503	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcttcagagcaaatccaaaGgtagaagaaagagagaaaag	10	6	2	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:78173503G>T	ENST00000349847.3	+	14	921	c.837G>T	c.(835-837)aaG>aaT	p.K279N	SCEL_ENST00000469982.1_Intron|SCEL-AS1_ENST00000457528.2_RNA|SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000377246.3_Missense_Mutation_p.K259N|SCEL_ENST00000535157.1_Missense_Mutation_p.K257N	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	279	16 X approximate tandem repeats.				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)		CAAATCCAAAGGTAGAAGAAA	0.368																																						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.(769-771)aaG>aaT		sciellin							70	65	67					13																	78173503		2203	4300	6503	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78173503G>T	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.837G>T	13.37:g.78173503G>T	ENSP00000302579:p.Lys279Asn		Somatic				SCEL_ENST00000469982.1_Intron|SCEL_ENST00000377246.3_Missense_Mutation_p.K259N|SCEL_ENST00000349847.3_Missense_Mutation_p.K279N	p.K257N	NM_001160706.1	NP_001154178.1	WXS	Illumina GAIIx	Phase_I	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	13	941	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	279			16 X approximate tandem repeats.		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.771G>T	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417028	0.62511	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.26810	1.71;1.71;1.71	5.56	4.71	0.59529	.	0.200292	0.35646	N	0.003066	T	0.39682	0.1087	L	0.51422	1.61	0.35503	D	0.799939	D;P;D	0.63046	0.982;0.897;0.992	P;P;P	0.61397	0.837;0.645;0.888	T	0.52793	-0.8528	10	0.59425	D	0.04	-11.5004	10.8895	0.46988	0.0875:0.0:0.9125:0.0	.	257;259;279	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	N	236;257;259;279	ENSP00000437895:K257N;ENSP00000366454:K259N;ENSP00000302579:K279N	ENSP00000315127:K236N	K	+	3	2	SCEL	77071504	0.998000	0.40836	0.402000	0.26371	0.755000	0.42902	1.352000	0.34033	1.481000	0.48307	0.650000	0.86243	AAG		0.368	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		9	21	1	0	7.48243e-07	1	8.49459e-07	9	21					T	78173503	G	T	78173503	3	4	48	1	0	0	0	0	1	0	0	0	13903	991	35	5	887	5	SCEL	13	78173503	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	42677	78173503	36996375	3205	7673										
SCEL	8796	broad.mit.edu	37	chr13	78202083	78202083	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatatatttttttccttagaGaccagaacctggaaaattta	5	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:78202083G>A	ENST00000349847.3	+	28	1714	c.1630G>A	c.(1630-1632)Gac>Aac	p.D544N	SCEL_ENST00000377246.3_Splice_Site_p.D524N|SCEL_ENST00000535157.1_Splice_Site_p.D502N	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	544	16 X approximate tandem repeats.				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)		TTTCCTTAGAGACCAGAACCT	0.249																																						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.e26-1		sciellin							25	29	28					13																	78202083		2125	4212	6337	SO:0001630	splice_region_variant	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78202083G>A	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.1629-1G>A	13.37:g.78202083G>A			Somatic				SCEL_ENST00000377246.3_Splice_Site_p.D524_splice|SCEL_ENST00000349847.3_Splice_Site_p.D544_splice	p.D502_splice	NM_001160706.1	NP_001154178.1	WXS	Illumina GAIIx	Phase_I	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	26	1674	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	544			16 X approximate tandem repeats.		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Splice_Site	SNP	ENST00000349847.3	37	c.1502_splice	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655298	0.47467	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.24908	1.83;1.83;1.83	4.94	4.94	0.65067	.	0.119926	0.37530	N	0.002048	T	0.34774	0.0909	M	0.63428	1.95	0.29709	N	0.839565	P;P;P	0.51933	0.949;0.949;0.949	P;P;P	0.49192	0.602;0.52;0.602	T	0.26950	-1.0088	10	0.40728	T	0.16	-0.9255	13.5263	0.61597	0.0:0.0:1.0:0.0	.	502;524;544	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	N	502;524;544	ENSP00000437895:D502N;ENSP00000366454:D524N;ENSP00000302579:D544N	ENSP00000302579:D544N	D	+	1	0	SCEL	77100084	1.000000	0.71417	0.998000	0.56505	0.112000	0.19704	2.180000	0.42537	2.572000	0.86782	0.591000	0.81541	GAC		0.249	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777	Missense_Mutation	14	15	0	0	0	1	0	14	15					A	78202083	G	A	78202083	5	1	48	1	0	0	0	0	0	0	1	0	13903	956	33	3	1736	3	SCEL	13	78202083	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	28580	78202083	36967795	3206	7674										
RNF219	79596	broad.mit.edu	37	chr13	79213182	79213182	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actcttaagctcttctacttCtttctgtaaacaatctattt	2	10	6	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:79213182C>A	ENST00000282003.6	-	4	383	c.325G>T	c.(325-327)Gaa>Taa	p.E109*		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	109							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TCTTCTACTTCTTTCTGTAAA	0.383																																						ENST00000282003.6																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32						c.(325-327)Gaa>Taa		ring finger protein 219							79	79	79					13																	79213182		2203	4299	6502	SO:0001587	stop_gained	79596						zinc ion binding	g.chr13:79213182C>A	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"RING-type (C3HC4) zinc fingers"	20308	protein-coding gene	gene with protein product		615906	"chromosome 13 open reading frame 7"	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.325G>T	13.37:g.79213182C>A	ENSP00000282003:p.Glu109*		Somatic					p.E109*	NM_024546.3	NP_078822.3	WXS	Illumina GAIIx	Phase_I	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	4	383	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	109					B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Nonsense_Mutation	SNP	ENST00000282003.6	37	c.325G>T	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	C	36	5.805136	0.96967	.	.	ENSG00000152193	ENST00000282003	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-8.3052	19.1669	0.93561	0.0:1.0:0.0:0.0	.	.	.	.	X	109	.	ENSP00000282003:E109X	E	-	1	0	RNF219	78111183	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.960000	0.76036	2.515000	0.84797	0.655000	0.94253	GAA		0.383	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		11	38	1	0	3.86212e-05	1	4.21111e-05	11	38					A	79213182	C	A	79213182	4	1	48	1	0	0	0	0	0	1	0	0	13497	922	32	2	1867	2	RNF219	13	79213182	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1011099	79213182	35956696	3207	7675										
SLITRK1	114798	broad.mit.edu	37	chr13	84454060	84454060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggagcactcccaggggtttCcgtggaggtctatctggatg	15	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:84454060C>T	ENST00000377084.2	-	1	2468	c.1583G>A	c.(1582-1584)gGa>gAa	p.G528E		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	528					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)		CCAGGGGTTTCCGTGGAGGTC	0.552																																						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.(1582-1584)gGa>gAa		SLIT and NTRK-like family, member 1							53	53	53					13																	84454060		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454060C>T	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.1583G>A	13.37:g.84454060C>T	ENSP00000366288:p.Gly528Glu		Somatic					p.G528E	NM_052910.1	NP_443142.1	WXS	Illumina GAIIx	Phase_I	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2468	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	528					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1583G>A	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	1.740	-0.491850	0.04322	.	.	ENSG00000178235	ENST00000377084	T	0.56444	0.46	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	N	0.26042	0.785	0.58432	D	0.999999	B	0.06786	0.001	B	0.10450	0.005	T	0.26430	-1.0103	10	0.06891	T	0.86	-8.0611	17.693	0.88273	0.0:1.0:0.0:0.0	.	528	Q96PX8	SLIK1_HUMAN	E	528	ENSP00000366288:G528E	ENSP00000366288:G528E	G	-	2	0	SLITRK1	83352061	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	4.046000	0.57376	2.603000	0.88011	0.655000	0.94253	GGA		0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		25	37	0	0	0	1	0	25	37					T	84454060	C	T	84454060	3	4	48	1	0	0	0	0	1	0	0	0	14757	855	30	3	511	3	SLITRK1	13	84454060	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5240878	84454060	30715818	3208	7676										
SLITRK1	114798	broad.mit.edu	37	chr13	84454778	84454778	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgcccatttgtcttgaaagGagttggcaggggtccaggag	15	7	1	1	rs202070945		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:84454778G>T	ENST00000377084.2	-	1	1750	c.865C>A	c.(865-867)Cct>Act	p.P289T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	289					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)		GTCTTGAAAGGAGTTGGCAGG	0.542													G|||	1	0.000199681	0	0.0014	5008	,	,		17470	0		0	False		,,,				2504	0					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.(865-867)Cct>Act		SLIT and NTRK-like family, member 1		G	THR/PRO	1,4405	2.1+/-5.4	0,1,2202	77	77	77		865	4.8	1	13		77	0,8600		0,0,4300	no	missense	SLITRK1	NM_052910.1	38	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	289/697	84454778	1,13005	2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454778G>T	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.865C>A	13.37:g.84454778G>T	ENSP00000366288:p.Pro289Thr		Somatic					p.P289T	NM_052910.1	NP_443142.1	WXS	Illumina GAIIx	Phase_I	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1750	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	289					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.865C>A	CCDS9464.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	13.75	2.329274	0.41197	2.27E-4	0.0	ENSG00000178235	ENST00000377084	T	0.58210	0.35	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	N	0.11064	0.09	0.80722	D	1	B	0.17852	0.024	B	0.15870	0.014	T	0.13308	-1.0514	10	0.15066	T	0.55	-6.5717	16.699	0.85343	0.0:0.0:1.0:0.0	.	289	Q96PX8	SLIK1_HUMAN	T	289	ENSP00000366288:P289T	ENSP00000366288:P289T	P	-	1	0	SLITRK1	83352779	.	.	1.000000	0.80357	0.913000	0.54294	.	.	2.525000	0.85131	0.555000	0.69702	CCT		0.542	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		14	32	1	0	0.000219431	1	0.000235335	14	32					T	84454778	G	T	84454778	3	4	48	1	0	0	0	0	1	0	0	0	14757	1174	41	2	1229	2	SLITRK1	13	84454778	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	718	84454778	30715100	3209	7677										
SLITRK5	26050	broad.mit.edu	37	chr13	88328028	88328028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccggggctttccatgggctaCggggtttgaggagattgcat	16	8	0	2	rs376984309		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:88328028C>T	ENST00000325089.6	+	2	604	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	129					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)					CCATGGGCTACGGGGTTTGAG	0.448																																						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.(385-387)Cgg>Tgg		SLIT and NTRK-like family, member 5		C	TRP/ARG	0,4406		0,0,2203	97	99	98		385	4.2	1	13		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLITRK5	NM_015567.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	129/959	88328028	1,13005	2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328028C>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.385C>T	13.37:g.88328028C>T	ENSP00000366283:p.Arg129Trp		Somatic				SLITRK5_ENST00000400028.3_Intron	p.R129W	NM_015567.1	NP_056382.1	WXS	Illumina GAIIx	Phase_I	O94991	SLIK5_HUMAN			2	604	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		129					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.385C>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127974	0.37533	0.0	1.16E-4	ENSG00000165300	ENST00000325089	T	0.53423	0.62	5.94	4.19	0.49359	.	0.227351	0.38548	N	0.001653	T	0.67144	0.2862	M	0.80746	2.51	0.80722	D	1	D	0.71674	0.998	D	0.64877	0.93	T	0.69495	-0.5130	9	.	.	.	-14.0817	13.6225	0.62144	0.2812:0.7188:0.0:0.0	.	129	O94991	SLIK5_HUMAN	W	129	ENSP00000366283:R129W	.	R	+	1	2	SLITRK5	87126029	0.982000	0.34865	0.997000	0.53966	0.483000	0.33249	1.747000	0.38298	0.811000	0.34303	0.561000	0.74099	CGG		0.448	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			45	78	0	0	0	1	0	45	78					T	88328028	C	T	88328028	3	4	48	1	0	0	0	0	1	0	0	0	14761	527	19	1	387	1	SLITRK5	13	88328028	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3873250	88328028	26841850	3210	7678										
SLITRK5	26050	broad.mit.edu	37	chr13	88330517	88330517	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagaccacgtttagccagttCtaaaagcaaagaaactctct	6	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:88330517C>A	ENST00000325089.6	+	2	3093	c.2874C>A	c.(2872-2874)ttC>ttA	p.F958L	SLITRK5_ENST00000400028.3_Missense_Mutation_p.F717L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	958					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)					TTAGCCAGTTCTAAAAGCAAA	0.398																																						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.(2872-2874)ttC>ttA		SLIT and NTRK-like family, member 5							80	87	85					13																	88330517		2097	4144	6241	SO:0001583	missense	26050					integral to membrane		g.chr13:88330517C>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.2874C>A	13.37:g.88330517C>A	ENSP00000366283:p.Phe958Leu		Somatic				SLITRK5_ENST00000400028.3_Missense_Mutation_p.F717L	p.F958L	NM_015567.1	NP_056382.1	WXS	Illumina GAIIx	Phase_I	O94991	SLIK5_HUMAN			2	3093	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		958					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2874C>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	6.501	0.460712	0.12342	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.70869	-0.52;-0.29	5.53	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	N	0.25890	0.77	0.45567	D	0.998518	B;B	0.26120	0.025;0.142	B;B	0.23018	0.028;0.043	T	0.50145	-0.8862	9	.	.	.	.	11.3792	0.49746	0.0:0.9128:0.0:0.0872	.	717;958	B4DSH5;O94991	.;SLIK5_HUMAN	L	958;717	ENSP00000366283:F958L;ENSP00000442244:F717L	.	F	+	3	2	SLITRK5	87128518	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.801000	0.47908	2.590000	0.87494	0.462000	0.41574	TTC		0.398	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			31	64	1	0	9.65021e-13	1	1.22324e-12	31	64					A	88330517	C	A	88330517	3	1	48	1	0	0	0	0	1	0	0	0	14761	912	32	2	2876	2	SLITRK5	13	88330517	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2489	88330517	26839361	3211	7679										
DCT	1638	broad.mit.edu	37	chr13	95121172	95121172	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcgagatctaaggcgcccaaGaactgctctctttcctgagg	11	12	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:95121172G>T	ENST00000377028.5	-	2	836	c.423C>A	c.(421-423)ttC>ttA	p.F141L	DCT_ENST00000446125.1_Missense_Mutation_p.F141L|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	141					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGGCGCCCAAGAACTGCTCTC	0.567																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(421-423)ttC>ttA		dopachrome tautomerase							221	221	221					13																	95121172		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95121172G>T	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.423C>A	13.37:g.95121172G>T	ENSP00000366227:p.Phe141Leu		Somatic				DCT_ENST00000446125.1_Missense_Mutation_p.F141L	p.F141L	NM_001922.3	NP_001913.2	WXS	Illumina GAIIx	Phase_I	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	2	836	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	141					Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.423C>A	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283738	0.59867	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98968	-5.28;-5.28	5.79	4.08	0.47627	Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.98890	0.9624	M	0.82923	2.615	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.79784	0.993;0.989	D	0.98853	1.0759	9	.	.	.	-22.8293	9.5092	0.39067	0.2119:0.0:0.7881:0.0	.	141;141	Q09GT4;P40126	.;TYRP2_HUMAN	L	141	ENSP00000366227:F141L;ENSP00000392762:F141L	.	F	-	3	2	DCT	93919173	1.000000	0.71417	0.812000	0.32479	0.488000	0.33401	2.597000	0.46214	0.808000	0.34231	0.655000	0.94253	TTC		0.567	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			98	175	1	0	3.26951e-42	1	4.73095e-42	98	175					T	95121172	G	T	95121172	3	4	48	1	0	0	0	0	1	0	0	0	4306	933	33	2	1271	2	DCT	13	95121172	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	6790655	95121172	20048706	3212	7680										
TGDS	23483	broad.mit.edu	37	chr13	95231015	95231015	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgctgtagcaaagatataaAttttggaataacctaaaaga	8	4	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:95231015A>C	ENST00000261296.5	-	8	748	c.628T>G	c.(628-630)Ttt>Gtt	p.F210V	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	210					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					AAAGATATAAATTTTGGAATA	0.274																																						ENST00000261296.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(628-630)Ttt>Gtt		TDP-glucose 4,6-dehydratase							59	68	65					13																	95231015		2199	4287	6486	SO:0001583	missense	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95231015A>C	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	20324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 2E, member 1"					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.628T>G	13.37:g.95231015A>C	ENSP00000261296:p.Phe210Val		Somatic				TGDS_ENST00000498294.1_5'UTR	p.F210V	NM_014305.2	NP_055120.1	WXS	Illumina GAIIx	Phase_I	O95455	TGDS_HUMAN			8	748	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		210					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Missense_Mutation	SNP	ENST00000261296.5	37	c.628T>G	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.927648	0.73327	.	.	ENSG00000088451	ENST00000261296	D	0.89415	-2.51	5.6	5.6	0.85130	NAD-dependent epimerase/dehydratase (1);	0.000000	0.85682	D	0.000000	D	0.93736	0.7998	M	0.82193	2.58	0.51482	D	0.999928	D	0.89917	1.0	D	0.87578	0.998	D	0.92396	0.5925	10	0.25751	T	0.34	.	11.711	0.51625	0.8677:0.0:0.0:0.1323	.	210	O95455	TGDS_HUMAN	V	210	ENSP00000261296:F210V	ENSP00000261296:F210V	F	-	1	0	TGDS	94029016	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	4.037000	0.57311	2.257000	0.74773	0.528000	0.53228	TTT		0.274	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305		6	53	0	0	0	1	0	6	53					C	95231015	A	C	95231015	3	2	48	1	0	0	0	0	1	0	0	0	15829	101	4	4	444	4	TGDS	13	95231015	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	109843	95231015	19938863	3213	7681										
ABCC4	10257	broad.mit.edu	37	chr13	95847160	95847160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgacggcagctgacggttgCgctgtgatatctcatcaagt	12	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:95847160C>T	ENST00000376887.4	-	9	1307	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	ABCC4_ENST00000412704.1_Missense_Mutation_p.R398H|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.R323H|ABCC4_ENST00000431522.1_Missense_Mutation_p.R398H	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	398					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)	CTGACGGTTGCGCTGTGATAT	0.378																																						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.(1192-1194)cGc>cAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						105	93	97					13																	95847160		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.chr13:95847160C>T	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.1193G>A	13.37:g.95847160C>T	ENSP00000366084:p.Arg398His		Somatic				ABCC4_ENST00000412704.1_Missense_Mutation_p.R398H|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.R323H|ABCC4_ENST00000431522.1_Missense_Mutation_p.R398H	p.R398H	NM_005845.3	NP_005836.2	WXS	Illumina GAIIx	Phase_I	O15439	MRP4_HUMAN			9	1307	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		398					A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.1193G>A	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	5.967	0.362443	0.11296	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.91124	-2.73;-2.7;-2.79;-2.73	4.98	-4.68	0.03309	ABC transporter, transmembrane domain, type 1 (1);	1.392330	0.03947	N	0.287812	T	0.78534	0.4298	N	0.17838	0.53	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.002;0.001;0.002;0.002	B;B;B;B;B	0.08055	0.0;0.002;0.003;0.002;0.001	T	0.62789	-0.6780	10	0.25751	T	0.34	.	0.3889	0.00407	0.2269:0.2494:0.1747:0.349	.	323;398;398;398;398	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	H	398;398;323;398	ENSP00000388657:R398H;ENSP00000366084:R398H;ENSP00000442024:R323H;ENSP00000398562:R398H	ENSP00000366084:R398H	R	-	2	0	ABCC4	94645161	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-2.420000	0.01032	-0.917000	0.03813	0.462000	0.41574	CGC		0.378	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		5	25	0	0	0	1	0	5	25					T	95847160	C	T	95847160	3	4	48	1	0	0	0	0	1	0	0	0	55	768	27	1	2925	1	ABCC4	13	95847160	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	616145	95847160	19322718	3214	7682										
UGGT2	55757	broad.mit.edu	37	chr13	96555127	96555127	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctcaataaggaatgttttaAttttatctccagagtaaata	5	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:96555127A>C	ENST00000376747.3	-	21	2553	c.2483T>G	c.(2482-2484)aTt>aGt	p.I828S		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	828					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GAATGTTTTAATTTTATCTCC	0.318																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(2482-2484)aTt>aGt		UDP-glucose glycoprotein glucosyltransferase 2							77	84	82					13																	96555127		2201	4298	6499	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.chr13:96555127A>C	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2483T>G	13.37:g.96555127A>C	ENSP00000365938:p.Ile828Ser		Somatic					p.I828S	NM_020121.3	NP_064506.3	WXS	Illumina GAIIx	Phase_I	Q9NYU1	UGGG2_HUMAN			21	2553	-			828					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.2483T>G	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.147018	0.37923	.	.	ENSG00000102595	ENST00000376747	T	0.08370	3.1	5.66	5.66	0.87406	.	0.227351	0.43919	D	0.000517	T	0.15176	0.0366	M	0.74881	2.28	0.80722	D	1	P	0.48640	0.913	B	0.41723	0.365	T	0.01287	-1.1395	10	0.72032	D	0.01	-10.5017	15.8821	0.79211	1.0:0.0:0.0:0.0	.	828	Q9NYU1	UGGG2_HUMAN	S	828	ENSP00000365938:I828S	ENSP00000365938:I828S	I	-	2	0	UGGT2	95353128	1.000000	0.71417	0.884000	0.34674	0.593000	0.36681	7.598000	0.82745	2.156000	0.67533	0.528000	0.53228	ATT		0.318	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		19	40	0	0	0	1	0	19	40					C	96555127	A	C	96555127	3	2	48	1	0	0	0	0	1	0	0	0	16957	101	4	4	2143	4	UGGT2	13	96555127	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	707967	96555127	18614751	3215	7683										
UGGT2	55757	broad.mit.edu	37	chr13	96589253	96589253	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccatttttagttctttaatAttcatctcttcatgtttaaa	3	7	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:96589253A>C	ENST00000376747.3	-	17	1972	c.1902T>G	c.(1900-1902)aaT>aaG	p.N634K		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	634					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GTTCTTTAATATTCATCTCTT	0.338																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(1900-1902)aaT>aaG		UDP-glucose glycoprotein glucosyltransferase 2							86	91	89					13																	96589253		2203	4299	6502	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.chr13:96589253A>C	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"UDP-glucose:glycoprotein glucosyltransferase 2"	605898	"UDP-glucose ceramide glucosyltransferase-like 2"	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1902T>G	13.37:g.96589253A>C	ENSP00000365938:p.Asn634Lys		Somatic					p.N634K	NM_020121.3	NP_064506.3	WXS	Illumina GAIIx	Phase_I	Q9NYU1	UGGG2_HUMAN			17	1972	-			634					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.1902T>G	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.174649	0.38413	.	.	ENSG00000102595	ENST00000376747	T	0.27890	1.64	5.66	3.26	0.37387	.	0.273821	0.42053	D	0.000764	T	0.32376	0.0827	M	0.77820	2.39	0.24625	N	0.99365	B	0.12630	0.006	B	0.14023	0.01	T	0.24404	-1.0161	10	0.28530	T	0.3	-12.2171	9.5499	0.39304	0.8554:0.0:0.1446:0.0	.	634	Q9NYU1	UGGG2_HUMAN	K	634	ENSP00000365938:N634K	ENSP00000365938:N634K	N	-	3	2	UGGT2	95387254	0.219000	0.23619	0.001000	0.08648	0.008000	0.06430	2.612000	0.46343	0.520000	0.28426	0.533000	0.62120	AAT		0.338	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		16	55	0	0	0	1	0	16	55					C	96589253	A	C	96589253	3	2	48	1	0	0	0	0	1	0	0	0	16957	446	16	4	2740	4	UGGT2	13	96589253	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	34126	96589253	18580625	3216	7684										
STK24	8428	broad.mit.edu	37	chr13	99127579	99127579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatttctcttaatatagtagCgatctgggtttcatctaatg	7	6	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:99127579C>T	ENST00000376547.3	-	4	545	c.400G>A	c.(400-402)Gct>Act	p.A134T	STK24_ENST00000539966.1_Missense_Mutation_p.A103T|STK24_ENST00000397517.2_Missense_Mutation_p.A122T	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	134	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)			AATATAGTAGCGATCTGGGTT	0.333																																						ENST00000397517.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17						c.(364-366)Gct>Act		serine/threonine kinase 24							82	82	82					13																	99127579		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.chr13:99127579C>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.400G>A	13.37:g.99127579C>T	ENSP00000365730:p.Ala134Thr		Somatic				STK24_ENST00000539966.1_Missense_Mutation_p.A103T|STK24_ENST00000376547.3_Missense_Mutation_p.A134T	p.A122T	NM_001032296.2	NP_001027467.2	WXS	Illumina GAIIx	Phase_I	Q9Y6E0	STK24_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		4	440	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		134			Protein kinase.		O14840|Q5JV92	Missense_Mutation	SNP	ENST00000376547.3	37	c.364G>A	CCDS9488.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.428787|5.428787	0.96131|0.96131	.|.	.|.	ENSG00000102572|ENSG00000102572	ENST00000397517;ENST00000376547;ENST00000539966;ENST00000376533;ENST00000543110|ENST00000444574	T;T;T|.	0.25414|.	1.8;1.8;1.8|.	5.08|5.08	5.08|5.08	0.68730|0.68730	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|.	U|.	0.000034|.	T|T	0.71247|0.71247	0.3317|0.3317	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.77557|.	0.988;0.99;0.99|.	T|T	0.68500|0.68500	-0.5392|-0.5392	10|5	0.87932|.	D|.	0|.	.|.	18.8424|18.8424	0.92189|0.92189	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	103;122;134|.	B4DR80;Q5U0E6;Q9Y6E0|.	.;.;STK24_HUMAN|.	T|H	122;134;103;110;122|39	ENSP00000380651:A122T;ENSP00000365730:A134T;ENSP00000442539:A103T|.	ENSP00000365716:A110T|.	A|R	-|-	1|2	0|0	STK24|STK24	97925580|97925580	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.662000|7.662000	0.83803|0.83803	2.528000|2.528000	0.85240|0.85240	0.549000|0.549000	0.68633|0.68633	GCT|CGC		0.333	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576		10	28	0	0	0	1	0	10	28					T	99127579	C	T	99127579	3	4	48	1	0	0	0	0	1	0	0	0	15308	768	27	1	963	1	STK24	13	99127579	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2538326	99127579	16042299	3217	7685										
TM9SF2	9375	broad.mit.edu	37	chr13	100188971	100188971	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttacagataaaggccatgcaAaagatgcctgtgttattagt	9	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:100188971A>G	ENST00000376387.4	+	5	761	c.571A>G	c.(571-573)Aaa>Gaa	p.K191E	TM9SF2_ENST00000463709.1_3'UTR|RNY3P6_ENST00000390895.1_RNA	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	191					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AGGCCATGCAAAAGATGCCTG	0.363																																						ENST00000376387.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17						c.(571-573)Aaa>Gaa		transmembrane 9 superfamily member 2							195	177	183					13																	100188971		2203	4300	6503	SO:0001583	missense	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100188971A>G	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.571A>G	13.37:g.100188971A>G	ENSP00000365567:p.Lys191Glu		Somatic				TM9SF2_ENST00000463709.1_3'UTR	p.K191E	NM_004800.1	NP_004791.1	WXS	Illumina GAIIx	Phase_I	Q99805	TM9S2_HUMAN			5	761	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		191					A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	c.571A>G	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	A	18.43	3.622368	0.66787	.	.	ENSG00000125304	ENST00000376387	T	0.44881	0.91	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	M	0.74647	2.275	0.58432	D	0.999999	B	0.17852	0.024	B	0.30572	0.117	T	0.43048	-0.9415	10	0.20519	T	0.43	-19.9394	16.635	0.85050	1.0:0.0:0.0:0.0	.	191	Q99805	TM9S2_HUMAN	E	191	ENSP00000365567:K191E	ENSP00000365567:K191E	K	+	1	0	TM9SF2	98986972	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.189000	0.94928	2.330000	0.79161	0.477000	0.44152	AAA		0.363	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			17	23	0	0	0	1	0	17	23					G	100188971	A	G	100188971	3	3	48	1	0	0	0	0	1	0	0	0	15993	15	1	4	589	4	TM9SF2	13	100188971	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1061392	100188971	14980907	3218	7686										
CLYBL	171425	broad.mit.edu	37	chr13	100518526	100518526	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtaaagaaaccctggatattCtctacgcccggcaaaagatt	8	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:100518526C>A	ENST00000376360.1	+	6	694	c.667C>A	c.(667-669)Ctc>Atc	p.L223I	CLYBL_ENST00000339105.4_Missense_Mutation_p.L223I|CLYBL_ENST00000444838.2_Missense_Mutation_p.L189I|CLYBL_ENST00000376354.1_Missense_Mutation_p.L189I|CLYBL_ENST00000376355.3_Missense_Mutation_p.L189I			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	223						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)					CCTGGATATTCTCTACGCCCG	0.428																																						ENST00000376355.3																			0				NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25						c.(565-567)Ctc>Atc		citrate lyase beta like							98	102	101					13																	100518526		2203	4300	6503	SO:0001583	missense	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100518526C>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.667C>A	13.37:g.100518526C>A	ENSP00000365538:p.Leu223Ile		Somatic				CLYBL_ENST00000444838.2_Missense_Mutation_p.L189I|CLYBL_ENST00000339105.4_Missense_Mutation_p.L223I|CLYBL_ENST00000376360.1_Missense_Mutation_p.L223I|CLYBL_ENST00000376354.1_Missense_Mutation_p.L189I	p.L189I	NM_206808.2	NP_996531.1	WXS	Illumina GAIIx	Phase_I	Q8N0X4	CLYBL_HUMAN			5	596	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		223					Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	c.565C>A	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157895	0.57368	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.75	5.75	0.90469	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.058760	0.64402	D	0.000002	T	0.43722	0.1260	M	0.68317	2.08	0.80722	D	1	P;B	0.35944	0.529;0.124	P;B	0.44696	0.458;0.181	T	0.33317	-0.9873	10	0.42905	T	0.14	-11.9759	9.4274	0.38588	0.1443:0.782:0.0:0.0737	.	189;223	B4DU60;Q8N0X4	.;CLYBL_HUMAN	I	189;223;189;189;223	ENSP00000365533:L189I;ENSP00000365538:L223I;ENSP00000404768:L189I;ENSP00000365532:L189I;ENSP00000342991:L223I	ENSP00000342991:L223I	L	+	1	0	CLYBL	99316527	0.996000	0.38824	0.976000	0.42696	0.936000	0.57629	2.991000	0.49409	2.866000	0.98385	0.650000	0.86243	CTC		0.428	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			38	64	1	0	1.02591e-13	1	1.31916e-13	38	64					A	100518526	C	A	100518526	3	1	48	1	0	0	0	0	1	0	0	0	3575	913	32	2	689	2	CLYBL	13	100518526	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	329555	100518526	14651352	3219	7687										
ZIC5	85416	broad.mit.edu	37	chr13	100617759	100617759	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcctggcaaacgtaccactCattgaggttggtcacctgag	12	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:100617759C>A	ENST00000267294.4	-	2	2097	c.1864G>T	c.(1864-1866)Gag>Tag	p.E622*		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	622					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)					ACGTACCACTCATTGAGGTTG	0.607																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1864-1866)Gag>Tag		Zic family member 5							76	74	75					13																	100617759		2203	4300	6503	SO:0001587	stop_gained	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617759C>A	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.1864G>T	13.37:g.100617759C>A	ENSP00000267294:p.Glu622*		Somatic					p.E622*	NM_033132.3	NP_149123.2	WXS	Illumina GAIIx	Phase_I	Q96T25	ZIC5_HUMAN			2	2097	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		622					Q5VYB0	Nonsense_Mutation	SNP	ENST00000267294.4	37	c.1864G>T	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	C	40	8.317146	0.98757	.	.	ENSG00000139800	ENST00000267294	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2386	0.98365	0.0:1.0:0.0:0.0	.	.	.	.	X	622	.	ENSP00000267294:E622X	E	-	1	0	ZIC5	99415760	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.260000	0.78391	2.871000	0.98454	0.655000	0.94253	GAG		0.607	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		37	59	1	0	3.21399e-22	1	4.46229e-22	37	59					A	100617759	C	A	100617759	4	1	48	1	0	0	0	0	0	1	0	0	17697	835	29	2	131	2	ZIC5	13	100617759	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	99233	100617759	14552119	3220	7688										
TMTC4	84899	broad.mit.edu	37	chr13	101258625	101258625	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcttacccaaattaccatgGtaacttgcagcatttggatt	6	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:101258625G>T	ENST00000376234.3	-	17	2253	c.2064C>A	c.(2062-2064)taC>taA	p.Y688*	TMTC4_ENST00000328767.5_Nonsense_Mutation_p.Y577*|TMTC4_ENST00000342624.5_Nonsense_Mutation_p.Y707*	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	688						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)					AATTACCATGGTAACTTGCAG	0.313																																						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.(2119-2121)taC>taA		transmembrane and tetratricopeptide repeat containing 4							80	73	75					13																	101258625		2202	4298	6500	SO:0001587	stop_gained	84899					integral to membrane	binding	g.chr13:101258625G>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.2064C>A	13.37:g.101258625G>T	ENSP00000365408:p.Tyr688*		Somatic				TMTC4_ENST00000328767.5_Nonsense_Mutation_p.Y577*|TMTC4_ENST00000376234.3_Nonsense_Mutation_p.Y688*	p.Y707*	NM_032813.2	NP_116202.2	WXS	Illumina GAIIx	Phase_I	Q5T4D3	TMTC4_HUMAN			18	2379	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		688					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Nonsense_Mutation	SNP	ENST00000376234.3	37	c.2121C>A	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	G	39	7.693960	0.98438	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	.	.	.	5.09	5.09	0.68999	.	0.118487	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0238	0.36215	0.1702:0.0:0.8298:0.0	.	.	.	.	X	688;707;577	.	ENSP00000365409:Y577X	Y	-	3	2	TMTC4	100056626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.586000	0.53950	2.358000	0.79984	0.650000	0.86243	TAC		0.313	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		12	17	1	0	0.00010058	1	0.000108553	12	17					T	101258625	G	T	101258625	4	4	48	1	0	0	0	0	0	1	0	0	16278	1256	44	5	169	5	TMTC4	13	101258625	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	640866	101258625	13911253	3221	7689										
FGF14	2259	broad.mit.edu	37	chr13	102378997	102378997	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtagaaaatgagctgctggtTtggttttctttactctgttc	10	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:102378997T>G	ENST00000376143.4	-	4	571	c.572A>C	c.(571-573)aAa>aCa	p.K191T	FGF14_ENST00000376131.4_Missense_Mutation_p.K196T	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	191					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCTGCTGGTTTGGTTTTCTT	0.358																																						ENST00000376131.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29						c.(586-588)aAa>aCa		fibroblast growth factor 14							170	150	157					13																	102378997		2203	4300	6503	SO:0001583	missense	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102378997T>G		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.572A>C	13.37:g.102378997T>G	ENSP00000365313:p.Lys191Thr		Somatic				FGF14_ENST00000376143.4_Missense_Mutation_p.K191T	p.K196T	NM_175929.2	NP_787125.1	WXS	Illumina GAIIx	Phase_I	Q92915	FGF14_HUMAN			4	682	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		191					Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	c.587A>C	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.411154	0.83340	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	D;D	0.81908	-1.55;-1.55	5.75	5.75	0.90469	.	0.044924	0.85682	D	0.000000	D	0.90776	0.7104	M	0.73753	2.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	D	0.91711	0.5381	10	0.72032	D	0.01	.	16.0551	0.80798	0.0:0.0:0.0:1.0	.	196;191	Q92915-2;Q92915	.;FGF14_HUMAN	T	196;191	ENSP00000365301:K196T;ENSP00000365313:K191T	ENSP00000365301:K196T	K	-	2	0	FGF14	101176998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.199000	0.70637	0.482000	0.46254	AAA		0.358	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			26	37	0	0	0	1	0	26	37					G	102378997	T	G	102378997	3	3	48	1	0	0	0	0	1	0	0	0	5851	1841	64	4	179	4	FGF14	13	102378997	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1120372	102378997	12790881	3222	7690										
FGF14	2259	broad.mit.edu	37	chr13	102379130	102379130	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ataattttcaaaaacagattCtttaaacttgcattcagggg	6	6	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:102379130C>A	ENST00000376143.4	-	4	438	c.439G>T	c.(439-441)Gaa>Taa	p.E147*	FGF14_ENST00000376131.4_Nonsense_Mutation_p.E152*	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	147					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.E147*(1)|p.E152*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAACAGATTCTTTAAACTTG	0.358																																						ENST00000376131.4																			2	Substitution - Nonsense(2)	p.E147*(1)|p.E152*(1)	large_intestine(2)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29						c.(454-456)Gaa>Taa		fibroblast growth factor 14							52	52	52					13																	102379130		2203	4300	6503	SO:0001587	stop_gained	2259				cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	g.chr13:102379130C>A		CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.439G>T	13.37:g.102379130C>A	ENSP00000365313:p.Glu147*		Somatic				FGF14_ENST00000376143.4_Nonsense_Mutation_p.E147*	p.E152*	NM_175929.2	NP_787125.1	WXS	Illumina GAIIx	Phase_I	Q92915	FGF14_HUMAN			4	549	-	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		147					Q86YN7|Q96QX6	Nonsense_Mutation	SNP	ENST00000376143.4	37	c.454G>T	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060964	0.93846	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	.	.	.	5.86	5.86	0.93980	.	0.092783	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1854	0.98212	0.0:1.0:0.0:0.0	.	.	.	.	X	152;147	.	ENSP00000365301:E152X	E	-	1	0	FGF14	101177131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.786000	0.95864	0.591000	0.81541	GAA		0.358	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2			3	19	1	0	0.184627	1	0.185817	3	19					A	102379130	C	A	102379130	4	1	48	1	0	0	0	0	0	1	0	0	5851	922	32	2	312	2	FGF14	13	102379130	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	133	102379130	12790748	3223	7691										
TPP2	7174	broad.mit.edu	37	chr13	103299592	103299592	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtaactccaagctgcccactActttgtgaactattatatga	6	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:103299592A>G	ENST00000376065.4	+	21	2562	c.2526A>G	c.(2524-2526)ctA>ctG	p.L842L	TPP2_ENST00000376052.3_Silent_p.L842L	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	842					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTGCCCACTACTTTGTGAAC	0.358																																						ENST00000376052.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(2524-2526)ctA>ctG		tripeptidyl peptidase II							74	74	74					13																	103299592		2203	4300	6503	SO:0001819	synonymous_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103299592A>G	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2526A>G	13.37:g.103299592A>G			Somatic				TPP2_ENST00000376065.4_Silent_p.L842L	p.L842L			WXS	Illumina GAIIx	Phase_I	P29144	TPP2_HUMAN			21	2542	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		842					Q5VZU8	Silent	SNP	ENST00000376065.4	37	c.2526A>G	CCDS9502.1																																																																																				0.358	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			8	22	0	0	0	1	0	8	22					G	103299592	A	G	103299592	2	3	48	1	0	0	0	0	0	0	0	1	16427	378	14	4		4	TPP2	13	103299592	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	920462	103299592	11870286	3224	7692										
C13orf39	196541	broad.mit.edu	37	chr13	103343277	103343277	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taatctgtaggaacaaatttCtggaggctatgaagagatgg	12	4	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:103343277C>A	ENST00000267273.6	-	2	173	c.168G>T	c.(166-168)caG>caT	p.Q56H		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	56					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						GAACAAATTTCTGGAGGCTAT	0.418																																						ENST00000267273.6																			0				breast(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(166-168)caG>caT		methyltransferase like 21C							153	142	146					13																	103343277		2203	4300	6503	SO:0001583	missense	196541						methyltransferase activity	g.chr13:103343277C>A		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.168G>T	13.37:g.103343277C>A	ENSP00000267273:p.Gln56His		Somatic					p.Q56H	NM_001010977.1	NP_001010977.1	WXS	Illumina GAIIx	Phase_I	Q5VZV1	MT21C_HUMAN			2	173	-			56						Missense_Mutation	SNP	ENST00000267273.6	37	c.168G>T	CCDS32003.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104758	0.77096	.	.	ENSG00000139780	ENST00000267273	T	0.15017	2.46	6.16	5.32	0.75619	.	0.343830	0.35466	N	0.003190	T	0.23451	0.0567	L	0.29908	0.895	0.36099	D	0.844018	D	0.64830	0.994	P	0.54401	0.751	T	0.17137	-1.0379	10	0.51188	T	0.08	-4.0E-4	14.4491	0.67372	0.0:0.9304:0.0:0.0696	.	56	Q5VZV1	MT21C_HUMAN	H	56	ENSP00000267273:Q56H	ENSP00000267273:Q56H	Q	-	3	2	METTL21C	102141278	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.942000	0.49018	1.627000	0.50400	0.650000	0.86243	CAG		0.418	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045682.2	NM_001010977		19	45	1	0	2.27525e-19	1	3.09626e-19	19	45					A	103343277	C	A	103343277	3	1	48	1	0	0	0	0	1	0	0	0	1734	912	32	2	638	2	C13orf39	13	103343277	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	43685	103343277	11826601	3225	7693										
C13orf27	93081	broad.mit.edu	37	chr13	103419691	103419691	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttaaacgaaagaggtcttCatctctgagtttatgctgct	8	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:103419691C>A	ENST00000376032.4	-	5	625	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	TEX30_ENST00000376022.1_Intron|TEX30_ENST00000376027.1_Intron|TEX30_ENST00000376029.3_Intron|TEX30_ENST00000376019.1_Nonsense_Mutation_p.E105*|TEX30_ENST00000487260.1_5'Flank|TEX30_ENST00000376021.4_Nonsense_Mutation_p.E105*	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30	146								p.E105*(2)|p.E146*(2)		lung(1)|urinary_tract(1)	2						AAGAGGTCTTCATCTCTGAGT	0.408																																						ENST00000376019.1																			4	Substitution - Nonsense(4)	p.E105*(2)|p.E146*(2)	urinary_tract(4)	lung(1)|urinary_tract(1)	2						c.(313-315)Gaa>Taa		testis expressed 30							106	102	103					13																	103419691		2203	4300	6503	SO:0001587	stop_gained	93081							g.chr13:103419691C>A	AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 27"	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.436G>T	13.37:g.103419691C>A	ENSP00000365200:p.Glu146*		Somatic				TEX30_ENST00000376027.1_Intron|TEX30_ENST00000376032.4_Nonsense_Mutation_p.E146*|TEX30_ENST00000376022.1_Intron|TEX30_ENST00000376029.3_Intron|TEX30_ENST00000376021.4_Nonsense_Mutation_p.E105*	p.E105*			WXS	Illumina GAIIx	Phase_I	Q5JUR7	CM027_HUMAN			3	1149	-			146					Q5JUR8|Q96KZ8	Nonsense_Mutation	SNP	ENST00000376032.4	37	c.313G>T	CCDS9503.2	.	.	.	.	.	.	.	.	.	.	C	37	6.360392	0.97502	.	.	ENSG00000151287	ENST00000376019;ENST00000376021;ENST00000376032	.	.	.	5.48	5.48	0.80851	.	0.046101	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-11.2866	19.7152	0.96115	0.0:1.0:0.0:0.0	.	.	.	.	X	105;105;146	.	ENSP00000365187:E105X	E	-	1	0	C13orf27	102217692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.032000	0.70918	2.733000	0.93635	0.591000	0.81541	GAA		0.408	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045691.4	NM_138779		5	56	1	0	0.014758	1	0.015099	5	56					A	103419691	C	A	103419691	4	1	48	1	0	0	0	0	0	1	0	0	1725	835	29	2	255	2	C13orf27	13	103419691	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	76414	103419691	11750187	3226	7694										
LIG4	3981	broad.mit.edu	37	chr13	108862660	108862660	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagatttgtatatctgctttGaatgcattatgaatgaatgg	9	4	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:108862660G>T	ENST00000356922.4	-	2	1229	c.957C>A	c.(955-957)ttC>ttA	p.F319L	LIG4_ENST00000442234.1_Missense_Mutation_p.F319L|LIG4_ENST00000405925.1_Missense_Mutation_p.F319L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	319					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TATCTGCTTTGAATGCATTAT	0.333								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(955-957)ttC>ttA	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							93	93	93					13																	108862660		2203	4299	6502	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108862660G>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.957C>A	13.37:g.108862660G>T	ENSP00000349393:p.Phe319Leu		Somatic				LIG4_ENST00000405925.1_Missense_Mutation_p.F319L|LIG4_ENST00000442234.1_Missense_Mutation_p.F319L	p.F319L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	WXS	Illumina GAIIx	Phase_I	P49917	DNLI4_HUMAN			2	1229	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		319					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.957C>A	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440410	0.25900	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.80909	-1.43;-1.43;-1.43	5.53	5.53	0.82687	DNA ligase, ATP-dependent, central (1);	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	L	0.42581	1.335	0.58432	D	0.999998	B	0.27140	0.169	B	0.36666	0.23	T	0.67772	-0.5584	10	0.22706	T	0.39	.	8.1024	0.30865	0.1713:0.0:0.8287:0.0	.	319	P49917	DNLI4_HUMAN	L	319	ENSP00000385955:F319L;ENSP00000402030:F319L;ENSP00000349393:F319L	ENSP00000349393:F319L	F	-	3	2	LIG4	107660661	0.991000	0.36638	0.585000	0.28666	0.533000	0.34776	2.234000	0.43035	2.601000	0.87937	0.643000	0.83706	TTC		0.333	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		22	41	1	0	0.000229342	1	0.00024587	22	41					T	108862660	G	T	108862660	3	4	48	1	0	0	0	0	1	0	0	0	8792	1281	45	2	1782	2	LIG4	13	108862660	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5442969	108862660	6307218	3227	7695										
TNFSF13B	10673	broad.mit.edu	37	chr13	108922412	108922412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaccttgctgctggcactgCtgtcttgctgcctcacggtg	11	14	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:108922412C>T	ENST00000375887.4	+	1	347	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	TNFSF13B_ENST00000542136.1_Silent_p.L57L|TNFSF13B_ENST00000430559.1_Silent_p.L57L	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	57					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	GCTGGCACTGCTGTCTTGCTG	0.622																																						ENST00000375887.4																			0				large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(169-171)Ctg>Ttg		tumor necrosis factor (ligand) superfamily, member 13b							114	118	117					13																	108922412		2203	4300	6503	SO:0001819	synonymous_variant	10673				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding	g.chr13:108922412C>T	AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.169C>T	13.37:g.108922412C>T			Somatic				TNFSF13B_ENST00000542136.1_Silent_p.L57L|TNFSF13B_ENST00000430559.1_Silent_p.L57L	p.L57L	NM_006573.4	NP_006564.1	WXS	Illumina GAIIx	Phase_I	Q9Y275	TN13B_HUMAN	all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		1	347	+	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		57					E0ADT7|Q6FHD6|Q7Z5J2	Silent	SNP	ENST00000375887.4	37	c.169C>T	CCDS9509.1																																																																																				0.622	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045739.3			30	147	0	0	0	1	0	30	147					T	108922412	C	T	108922412	2	4	48	1	0	0	0	0	0	0	0	1	16321	796	28	3		3	TNFSF13B	13	108922412	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	59752	108922412	6247466	3228	7696										
MYO16	23026	broad.mit.edu	37	chr13	109707398	109707399	+	Frame_Shift_Ins	INS	-	-	A													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctttttattacagttattINSaaaaaagaaaggaacttcta					rs570510297		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:109707398_109707399insA	ENST00000357550.2	+	25	3028_3029	c.2987_2988insA	c.(2986-2991)ttaaaafs	p.LK996fs	MYO16_ENST00000457511.2_Frame_Shift_Ins_p.LK508fs|MYO16_ENST00000356711.2_Frame_Shift_Ins_p.LK996fs	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)			TTACAGTTATTAAAAAAGAAAG	0.396																																						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.(2986-2988)taafs		myosin XVI																																				SO:0001589	frameshift_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109707398_109707399insA		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.2993dupA	13.37:g.109707404_109707404dupA	ENSP00000350160:p.Leu996fs		Somatic				MYO16_ENST00000357550.2_Frame_Shift_Ins_p.*996fs|MYO16_ENST00000457511.2_Frame_Shift_Ins_p.*508fs	p.*996fs	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)		26	3113_3114	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		996			Myosin head-like 2.			Frame_Shift_Ins	INS	ENST00000357550.2	37	c.2987_2988insA	CCDS32008.1																																																																																				0.396	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		8	19						8	19	---	---	---	---	A	109707399	-	A	109707398	7	5	48	1	0	1	1	0	0	0	0	0	10073	1764	61	0	3085	0	MYO16	13	109707398	Frame_Shift_Ins	INS	-	TCGA-ND-A4WC-01A-21D-A28R-08	784986	109707398	5462480	3229	7697										
COL4A1	1282	broad.mit.edu	37	chr13	110829261	110829261	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttggtctcctttctggcccTtcatgctgcccatgtccacc	7	17	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:110829261T>G	ENST00000375820.4	-	34	2961	c.2840A>C	c.(2839-2841)aAg>aCg	p.K947T		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	947	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)			TTTCTGGCCCTTCATGCTGCC	0.577																																						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.(2839-2841)aAg>aCg		collagen, type IV, alpha 1							128	113	118					13																	110829261		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110829261T>G	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.2840A>C	13.37:g.110829261T>G	ENSP00000364979:p.Lys947Thr		Somatic					p.K947T	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)		34	2961	-	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)	947			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.2840A>C	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.530798	0.85706	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.93247	-3.19	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.95220	0.8450	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94978	0.8123	10	0.45353	T	0.12	.	16.0092	0.80385	0.0:0.0:0.0:1.0	.	947	P02462	CO4A1_HUMAN	T	590;947;596	ENSP00000364979:K947T	ENSP00000364973:K590T	K	-	2	0	COL4A1	109627262	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.333000	0.79214	2.240000	0.73641	0.533000	0.62120	AAG		0.577	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			16	57	0	0	0	1	0	16	57					G	110829261	T	G	110829261	3	3	48	1	0	0	0	0	1	0	0	0	3691	1609	56	4	2245	4	COL4A1	13	110829261	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1121863	110829261	4340617	3230	7698										
PROZ	8858	broad.mit.edu	37	chr13	113824786	113824786	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgttataatacgggaaaaTtttgtactgacaacagcaaa	9	5	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:113824786T>G	ENST00000375547.2	+	7	640	c.633T>G	c.(631-633)aaT>aaG	p.N211K	PROZ_ENST00000342783.4_Missense_Mutation_p.N233K|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)			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)	TACGGGAAAATTTTGTACTGA	0.299																																						ENST00000342783.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16						c.(697-699)aaT>aaG		protein Z, vitamin K-dependent plasma glycoprotein	Menadione(DB00170)						61	66	64					13																	113824786		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.chr13:113824786T>G	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.633T>G	13.37:g.113824786T>G	ENSP00000364697:p.Asn211Lys		Somatic				PROZ_ENST00000493630.1_3'UTR|PROZ_ENST00000375547.2_Missense_Mutation_p.N211K	p.N233K	NM_001256134.1	NP_001243063.1	WXS	Illumina GAIIx	Phase_I	P22891	PROZ_HUMAN	all cancers(43;0.104)		8	706	+	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.699T>G	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	T	7.983	0.751591	0.15778	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.89343	-2.5;-2.5	4.02	-5.96	0.02234	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.358290	0.30455	U	0.009598	D	0.84051	0.5387	L	0.51422	1.61	0.21184	N	0.999762	P;P	0.42908	0.793;0.786	B;B	0.42386	0.268;0.386	T	0.79612	-0.1731	10	0.87932	D	0	.	13.8922	0.63747	0.0:0.3154:0.0:0.6846	.	233;211	P22891-2;P22891	.;PROZ_HUMAN	K	211;233	ENSP00000364697:N211K;ENSP00000344458:N233K	ENSP00000344458:N233K	N	+	3	2	PROZ	112872787	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	-1.471000	0.02344	-1.754000	0.01321	-1.843000	0.00578	AAT		0.299	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		14	27	0	0	0	1	0	14	27					G	113824786	T	G	113824786	3	3	48	1	0	0	0	0	1	0	0	0	12574	1490	52	4	659	4	PROZ	13	113824786	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2995525	113824786	1345092	3231	7699										
CDC16	8881	broad.mit.edu	37	chr13	115030682	115030682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caatgcttggtcattgcatcGaaatgtacattggtgattct	9	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:115030682G>A	ENST00000356221.3	+	17	1678	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	CDC16_ENST00000375308.1_Missense_Mutation_p.E430K|CDC16_ENST00000252457.5_Missense_Mutation_p.E523K|CDC16_ENST00000375310.1_Missense_Mutation_p.E430K|CDC16_ENST00000252458.6_Missense_Mutation_p.E379K|CDC16_ENST00000461716.1_3'UTR|CDC16_ENST00000360383.3_Missense_Mutation_p.E524K|CDC16_ENST00000375312.3_Missense_Mutation_p.E379K			Q13042	CDC16_HUMAN	cell division cycle 16	524					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)		p.E523K(1)		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)			TCATTGCATCGAAATGTACAT	0.333																																						ENST00000360383.3																			1	Substitution - Missense(1)	p.E523K(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1570-1572)Gaa>Aaa		cell division cycle 16							340	318	325					13																	115030682		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.chr13:115030682G>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.1570G>A	13.37:g.115030682G>A	ENSP00000348554:p.Glu524Lys		Somatic				CDC16_ENST00000375310.1_Missense_Mutation_p.E430K|CDC16_ENST00000375308.1_Missense_Mutation_p.E430K|CDC16_ENST00000356221.3_Missense_Mutation_p.E524K|CDC16_ENST00000375312.3_Missense_Mutation_p.E379K|CDC16_ENST00000252458.6_Missense_Mutation_p.E379K|CDC16_ENST00000461716.1_3'UTR|CDC16_ENST00000252457.5_Missense_Mutation_p.E523K	p.E524K	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)		17	1768	+	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)	524					A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	c.1570G>A	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167610	0.78339	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	T;T	0.76186	-1.0;-1.0	5.79	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	N	0.24115	0.695	0.80722	D	1	D;P;P	0.52996	0.957;0.504;0.744	P;B;B	0.50537	0.643;0.139;0.145	T	0.67507	-0.5653	9	.	.	.	-18.1377	16.2849	0.82714	0.0:0.0:0.8671:0.1329	.	472;523;524	Q13042-3;Q13042-2;Q13042	.;.;CDC16_HUMAN	K	524;379;524;430;523;430;379	ENSP00000364461:E379K;ENSP00000252458:E379K	.	E	+	1	0	CDC16	114048784	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.777000	0.75028	2.739000	0.93911	0.650000	0.86243	GAA		0.333	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		35	64	0	0	0	1	0	35	64					A	115030682	G	A	115030682	3	1	48	1	0	0	0	0	1	0	0	0	3060	1059	37	1	1636	1	CDC16	13	115030682	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1205896	115030682	139196	3232	7700										
POTEG	404785	broad.mit.edu	37	chr14	19553564	19553564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgggcacttctggagaccacGacgattctgctatgaagaca	11	10	2	3	rs369726800		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:19553564G>A	ENST00000409832.3	+	1	200	c.148G>A	c.(148-150)Gac>Aac	p.D50N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	50										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGAGACCACGACGATTCTGC	0.607																																						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.(148-150)Gac>Aac		POTE ankyrin domain family, member G		A	ASN/ASP	5,4379		0,5,2187	86	119	108		148		0	14		108	0,8566		0,0,4283	no	missense	POTEG	NM_001005356.2	23	0,5,6470	AA,AG,GG		0.0,0.1141,0.0386	possibly-damaging	50/509	19553564	5,12945	2192	4283	6475	SO:0001583	missense	404785							g.chr14:19553564G>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.148G>A	14.37:g.19553564G>A	ENSP00000386971:p.Asp50Asn		Somatic					p.D50N	NM_001005356.2	NP_001005356.1	WXS	Illumina GAIIx	Phase_I	Q6S5H5	POTEG_HUMAN			1	200	+			50					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.148G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	6.739	0.505135	0.12822	0.001141	0.0	ENSG00000222036	ENST00000409832	T	0.39997	1.05	.	.	.	.	.	.	.	.	T	0.24509	0.0594	L	0.43152	1.355	0.09310	N	1	D	0.53462	0.96	B	0.30943	0.122	T	0.17258	-1.0375	7	0.56958	D	0.05	.	.	.	.	.	50	Q6S5H5	POTEG_HUMAN	N	50	ENSP00000386971:D50N	ENSP00000386971:D50N	D	+	1	0	POTEG	18623564	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-0.414000	0.07114	0.162000	0.19483	0.165000	0.16767	GAC		0.607	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		88	603	0	0	0	1	0	88	603					A	19553564	G	A	19553564	3	1	48	1	0	0	0	0	1	0	0	0	12275	1058	37	1	150	1	POTEG	14	19553564	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08		19553564	87795976	3233	7701										
OR4N2	390429	broad.mit.edu	37	chr14	20295871	20295871	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggtggacttcctctctgcGaagaagataatctcctacag	9	10	2	2	rs144051874	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20295871G>A	ENST00000315947.1	+	1	264	c.264G>A	c.(262-264)gcG>gcA	p.A88A	OR4N2_ENST00000568211.1_Silent_p.A88A	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTCTCTGCGAAGAAGATAA	0.517																																						ENST00000568211.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(262-264)gcG>gcA		olfactory receptor, family 4, subfamily N, member 2		G		1,4405		0,1,2202	147	165	159		264	0.5	1	14	dbSNP_134	159	1,8599		0,1,4299	no	coding-synonymous	OR4N2	NM_001004723.1		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		88/308	20295871	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295871G>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.264G>A	14.37:g.20295871G>A			Somatic				OR4N2_ENST00000315947.1_Silent_p.A88A	p.A88A			WXS	Illumina GAIIx	Phase_I	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	264	+	all_cancers(95;0.00108)		88					Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	c.264G>A	CCDS32022.1																																																																																				0.517	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			56	289	0	0	0	1	0	56	289					A	20295871	G	A	20295871	2	1	48	1	0	0	0	0	0	0	0	1	11086	1045	37	1		1	OR4N2	14	20295871	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	742307	20295871	87053669	3234	7702										
OR4K17	390436	broad.mit.edu	37	chr14	20585842	20585842	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaatactcccatgtattttCtccttggtaatctctctttt	4	10	3	1	rs143610275	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20585842C>T	ENST00000315543.4	+	1	277	c.277C>T	c.(277-279)Ctc>Ttc	p.L93F		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CATGTATTTTCTCCTTGGTAA	0.393													C|||	2	0.000399361	0.0015	0	5008	,	,		20376	0		0	False		,,,				2504	0					ENST00000315543.4																			0				kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(277-279)Ctc>Ttc		olfactory receptor, family 4, subfamily K, member 17		C	PHE/LEU	10,4396		0,10,2193	233	239	237		277	2	1	14	dbSNP_134	237	0,8600		0,0,4300	yes	missense	OR4K17	NM_001004715.1	22	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	possibly-damaging	93/344	20585842	10,12996	2203	4300	6503	SO:0001583	missense	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20585842C>T		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"GPCR / Class A : Olfactory receptors"	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.277C>T	14.37:g.20585842C>T	ENSP00000319197:p.Leu93Phe		Somatic					p.L93F	NM_001004715.1	NP_001004715.1	WXS	Illumina GAIIx	Phase_I	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	277	+	all_cancers(95;0.00108)		65					Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	c.277C>T	CCDS32030.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	12.75	2.031300	0.35797	0.00227	0.0	ENSG00000176230	ENST00000315543	T	0.00848	5.62	2.86	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29602	U	0.011698	T	0.00998	0.0033	N	0.11427	0.14	0.26779	N	0.969631	P	0.50528	0.936	P	0.55965	0.788	T	0.55547	-0.8124	10	0.25106	T	0.35	.	5.0056	0.14286	0.0:0.5997:0.0:0.4003	.	65	Q8NGC6	OR4KH_HUMAN	F	93	ENSP00000319197:L93F	ENSP00000319197:L93F	L	+	1	0	OR4K17	19655682	0.076000	0.21285	0.995000	0.50966	0.542000	0.35054	0.348000	0.20031	0.510000	0.28216	0.404000	0.27445	CTC		0.393	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			7	210	0	0	0	1	0	7	210					T	20585842	C	T	20585842	3	4	48	1	0	0	0	0	1	0	0	0	11080	913	32	3	279	3	OR4K17	14	20585842	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	289971	20585842	86763698	3235	7703										
OR11H6	122748	broad.mit.edu	37	chr14	20692492	20692492	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgtttgcactggcctgcatCtctgctccttccactgagct	8	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20692492C>A	ENST00000315519.2	+	1	702	c.624C>A	c.(622-624)atC>atA	p.I208I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	208						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)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TGGCCTGCATCTCTGCTCCTT	0.498																																						ENST00000315519.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(622-624)atC>atA		olfactory receptor, family 11, subfamily H, member 6							123	114	117					14																	20692492		2203	4300	6503	SO:0001819	synonymous_variant	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692492C>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"GPCR / Class A : Olfactory receptors"	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.624C>A	14.37:g.20692492C>A			Somatic					p.I208I	NM_001004480.1	NP_001004480.1	WXS	Illumina GAIIx	Phase_I	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	702	+	all_cancers(95;0.00108)		208					Q6IF08	Silent	SNP	ENST00000315519.2	37	c.624C>A	CCDS32033.1																																																																																				0.498	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			12	24	1	0	2.27111e-07	1	2.60515e-07	12	24					A	20692492	C	A	20692492	2	1	48	1	0	0	0	0	0	0	0	1	10938	903	32	2		2	OR11H6	14	20692492	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	106650	20692492	86657048	3236	7704										
OR11H6	122748	broad.mit.edu	37	chr14	20692796	20692796	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaatccccttatctatagtCttcgaaacaaagacatgaaa	4	9	2	2	rs541140880		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20692796C>A	ENST00000315519.2	+	1	1006	c.928C>A	c.(928-930)Ctt>Att	p.L310I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	310						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)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TATCTATAGTCTTCGAAACAA	0.418																																						ENST00000315519.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(928-930)Ctt>Att		olfactory receptor, family 11, subfamily H, member 6							94	98	97					14																	20692796		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692796C>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"GPCR / Class A : Olfactory receptors"	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.928C>A	14.37:g.20692796C>A	ENSP00000319071:p.Leu310Ile		Somatic					p.L310I	NM_001004480.1	NP_001004480.1	WXS	Illumina GAIIx	Phase_I	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	1006	+	all_cancers(95;0.00108)		310					Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.928C>A	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686961	0.29962	.	.	ENSG00000176219	ENST00000315519	T	0.44881	0.91	5.1	5.1	0.69264	.	0.000000	0.46145	D	0.000305	T	0.66886	0.2835	M	0.91406	3.205	0.28520	N	0.913109	D	0.76494	0.999	D	0.65987	0.94	T	0.67960	-0.5535	10	0.87932	D	0	.	9.4393	0.38659	0.0:0.9056:0.0:0.0944	.	310	Q8NGC7	O11H6_HUMAN	I	310	ENSP00000319071:L310I	ENSP00000319071:L310I	L	+	1	0	OR11H6	19762636	0.100000	0.21855	0.950000	0.38849	0.135000	0.20990	0.528000	0.23002	2.648000	0.89879	0.471000	0.43371	CTT		0.418	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			40	75	1	0	5.73237e-09	1	6.82905e-09	40	75					A	20692796	C	A	20692796	3	1	48	1	0	0	0	0	1	0	0	0	10938	913	32	2	930	2	OR11H6	14	20692796	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	304	20692796	86656744	3237	7705										
TTC5	91875	broad.mit.edu	37	chr14	20760161	20760161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctttcctttgtgctgaattCggtgaagccgcaggttgggc	13	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20760161C>T	ENST00000258821.3	-	9	1240	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	395					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)		GTGCTGAATTCGGTGAAGCCG	0.448																																						ENST00000258821.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(1183-1185)cGa>cAa		tetratricopeptide repeat domain 5							73	63	66					14																	20760161		2203	4300	6503	SO:0001583	missense	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20760161C>T	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.1184G>A	14.37:g.20760161C>T	ENSP00000258821:p.Arg395Gln		Somatic					p.R395Q	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)	9	1240	-	all_cancers(95;0.00092)		395					A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.1184G>A	CCDS9546.1	.	.	.	.	.	.	.	.	.	.	C	5.482	0.273887	0.10403	.	.	ENSG00000136319	ENST00000258821	T	0.29397	1.57	4.92	-0.357	0.12579	.	0.904742	0.09533	N	0.789253	T	0.11965	0.0291	N	0.03608	-0.345	0.25157	N	0.990382	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	10	0.11794	T	0.64	.	9.0723	0.36500	0.0:0.2942:0.0:0.7058	.	395	Q8N0Z6	TTC5_HUMAN	Q	395	ENSP00000258821:R395Q	ENSP00000258821:R395Q	R	-	2	0	TTC5	19830001	0.604000	0.26932	0.990000	0.47175	0.502000	0.33828	-0.122000	0.10627	-0.007000	0.14345	-0.312000	0.09012	CGA		0.448	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		19	33	0	0	0	1	0	19	33					T	20760161	C	T	20760161	3	4	48	1	0	0	0	0	1	0	0	0	16726	884	31	1	146	1	TTC5	14	20760161	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	67365	20760161	86589379	3238	7706										
TTC5	91875	broad.mit.edu	37	chr14	20763928	20763928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagttgttgctctcgttgcCggggctctggccaggcaggg	17	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20763928C>T	ENST00000258821.3	-	7	838	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	261					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)		CTCTCGTTGCCGGGGCTCTGG	0.493																																						ENST00000258821.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(781-783)cGg>cAg		tetratricopeptide repeat domain 5							77	89	85					14																	20763928		2203	4300	6503	SO:0001583	missense	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20763928C>T	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.782G>A	14.37:g.20763928C>T	ENSP00000258821:p.Arg261Gln		Somatic					p.R261Q	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)	7	838	-	all_cancers(95;0.00092)		261					A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.782G>A	CCDS9546.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264436	0.23136	.	.	ENSG00000136319	ENST00000258821	T	0.74315	-0.83	4.83	-5.54	0.02544	Tetratricopeptide-like helical (1);	1.271680	0.05117	N	0.489946	T	0.43942	0.1270	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35773	-0.9775	10	0.14252	T	0.57	.	8.5553	0.33478	0.1133:0.2249:0.0:0.6617	.	261	Q8N0Z6	TTC5_HUMAN	Q	261	ENSP00000258821:R261Q	ENSP00000258821:R261Q	R	-	2	0	TTC5	19833768	0.000000	0.05858	0.413000	0.26509	0.992000	0.81027	-3.365000	0.00496	-0.835000	0.04234	-0.136000	0.14681	CGG		0.493	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		46	69	0	0	0	1	0	46	69					T	20763928	C	T	20763928	3	4	48	1	0	0	0	0	1	0	0	0	16726	652	23	1	556	1	TTC5	14	20763928	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3767	20763928	86585612	3239	7707										
PARP2	10038	broad.mit.edu	37	chr14	20825862	20825862	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgaatccagatggttataCcctcaactacaatgaatata	5	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20825862C>G	ENST00000250416.5	+	16	1685	c.1658C>G	c.(1657-1659)aCc>aGc	p.T553S	PARP2_ENST00000429687.3_Missense_Mutation_p.T540S|PARP2_ENST00000527915.1_3'UTR	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	553	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GATGGTTATACCCTCAACTAC	0.413								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000250416.5																			0				central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15						c.(1657-1659)aCc>aGc	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 2							116	110	112					14																	20825862		1879	4122	6001	SO:0001583	missense	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20825862C>G	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"Poly (ADP-ribose) polymerases"	272	protein-coding gene	gene with protein product		607725	"ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2", "poly (ADP-ribose) polymerase family, member 2"	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.1658C>G	14.37:g.20825862C>G	ENSP00000250416:p.Thr553Ser		Somatic				PARP2_ENST00000527915.1_3'UTR|PARP2_ENST00000429687.3_Missense_Mutation_p.T540S	p.T553S	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	WXS	Illumina GAIIx	Phase_I	Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	16	1685	+	all_cancers(95;0.00092)	all_lung(585;0.235)	553			PARP catalytic.		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	c.1658C>G	CCDS41910.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559314	0.27827	.	.	ENSG00000129484	ENST00000429687;ENST00000250416	T;T	0.04156	3.7;3.69	5.65	4.75	0.60458	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.204024	0.42420	D	0.000701	T	0.02455	0.0075	N	0.03999	-0.3	0.80722	D	1	B;B	0.22276	0.012;0.067	B;B	0.20577	0.004;0.03	T	0.32402	-0.9908	10	0.02654	T	1	-16.6007	14.8773	0.70504	0.1449:0.8551:0.0:0.0	.	540;553	Q9UGN5-2;Q9UGN5	.;PARP2_HUMAN	S	540;553	ENSP00000392972:T540S;ENSP00000250416:T553S	ENSP00000250416:T553S	T	+	2	0	PARP2	19895702	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.865000	0.62998	1.590000	0.49995	0.655000	0.94253	ACC		0.413	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			17	54	0	0	0	1	0	17	54					G	20825862	C	G	20825862	3	3	48	1	0	0	0	0	1	0	0	0	11470	507	18	5	1720	5	PARP2	14	20825862	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	61934	20825862	86523678	3240	7708										
TEP1	7011	broad.mit.edu	37	chr14	20872882	20872882	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagcagcaatggccaagatgTtattggccacattccggacg	11	10	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20872882T>G	ENST00000262715.5	-	5	960	c.920A>C	c.(919-921)aAc>aCc	p.N307T	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	307	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.		N -> K (in dbSNP:rs1760898).		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)		GGCCAAGATGTTATTGGCCAC	0.552																																						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.(919-921)aAc>aCc		telomerase-associated protein 1							77	72	74					14																	20872882		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.chr14:20872882T>G		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.920A>C	14.37:g.20872882T>G	ENSP00000262715:p.Asn307Thr		Somatic				TEP1_ENST00000556935.1_Intron	p.N307T	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)	5	960	-	all_cancers(95;0.00123)	all_lung(585;0.235)	307		N -> K (in dbSNP:rs1760898).	TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.920A>C	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.480791	0.26598	.	.	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.12672	2.66	5.55	-4.49	0.03504	TROVE (2);	1.009720	0.07938	N	0.978726	T	0.05227	0.0139	N	0.14661	0.345	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.43327	-0.9398	10	0.15499	T	0.54	0.7568	1.7884	0.03046	0.5072:0.165:0.0996:0.2281	.	307	Q99973	TEP1_HUMAN	T	307	ENSP00000262715:N307T	ENSP00000262715:N307T	N	-	2	0	TEP1	19942722	0.020000	0.18652	0.002000	0.10522	0.937000	0.57800	-0.097000	0.11042	-0.435000	0.07264	0.533000	0.62120	AAC		0.552	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		19	64	0	0	0	1	0	19	64					G	20872882	T	G	20872882	3	3	48	1	0	0	0	0	1	0	0	0	15774	1725	60	4	7167	4	TEP1	14	20872882	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	47020	20872882	86476658	3241	7709										
APEX1	328	broad.mit.edu	37	chr14	20925288	20925288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcgctgggatgaagcctttcGcaagttcctgaagggcctgg	15	10	0	2	rs367614890		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20925288G>A	ENST00000216714.3	+	5	846	c.578G>A	c.(577-579)cGc>cAc	p.R193H	APEX1_ENST00000555414.1_Missense_Mutation_p.R193H|OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000398030.4_Missense_Mutation_p.R193H|APEX1_ENST00000557054.1_Missense_Mutation_p.A12T|OSGEP_ENST00000556252.1_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	193					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)	p.R193H(1)		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)	GAAGCCTTTCGCAAGTTCCTG	0.542								Other BER factors																														ENST00000216714.3																			1	Substitution - Missense(1)	p.R193H(1)	ovary(1)	breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9						c.(577-579)cGc>cAc	Other BER factors	APEX nuclease (multifunctional DNA repair enzyme) 1	Lucanthone(DB04967)	G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	70	72	71		578,578,578	4.9	0.9	14		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	APEX1	NM_001641.3,NM_080648.2,NM_080649.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	193/319,193/319,193/319	20925288	1,13005	2203	4300	6503	SO:0001583	missense	328				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity	g.chr14:20925288G>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	ENST00000216714.3:c.578G>A	14.37:g.20925288G>A	ENSP00000216714:p.Arg193His		Somatic				APEX1_ENST00000557054.1_Missense_Mutation_p.A12T|APEX1_ENST00000555414.1_Missense_Mutation_p.R193H|APEX1_ENST00000398030.4_Missense_Mutation_p.R193H|APEX1_ENST00000557365.1_3'UTR	p.R193H	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	WXS	Illumina GAIIx	Phase_I	P27695	APEX1_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	5	846	+	all_cancers(95;0.00123)	all_lung(585;0.235)	193					Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	c.578G>A	CCDS9550.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.45|14.45	2.538819|2.538819	0.45176|0.45176	0.0|0.0	1.16E-4|1.16E-4	ENSG00000100823|ENSG00000100823	ENST00000438886|ENST00000555414;ENST00000216714;ENST00000553681;ENST00000398030;ENST00000555839	.|T;T;T;T;T	.|0.80994	.|-1.44;-1.44;-1.44;-1.44;-1.44	5.79|5.79	4.89|4.89	0.63831|0.63831	.|Endonuclease/exonuclease/phosphatase (2);	.|0.107146	.|0.64402	.|D	.|0.000004	T|T	0.78355|0.78355	0.4270|0.4270	L|L	0.57130|0.57130	1.785|1.785	0.80722|0.80722	D|D	1|1	.|B	.|0.19331	.|0.035	.|B	.|0.09377	.|0.004	T|T	0.75736|0.75736	-0.3213|-0.3213	5|10	.|0.72032	.|D	.|0.01	.|.	15.7814|15.7814	0.78264|0.78264	0.0:0.1369:0.8631:0.0|0.0:0.1369:0.8631:0.0	.|.	.|193	.|P27695	.|APEX1_HUMAN	T|H	120|193;193;193;193;164	.|ENSP00000451979:R193H;ENSP00000216714:R193H;ENSP00000451327:R193H;ENSP00000381111:R193H;ENSP00000452460:R164H	.|ENSP00000216714:R193H	A|R	+|+	1|2	0|0	APEX1|APEX1	19995128|19995128	1.000000|1.000000	0.71417|0.71417	0.919000|0.919000	0.36401|0.36401	0.967000|0.967000	0.64934|0.64934	4.380000|4.380000	0.59581|0.59581	1.420000|1.420000	0.47138|0.47138	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.542	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		18	29	0	0	0	1	0	18	29					A	20925288	G	A	20925288	3	1	48	1	0	0	0	0	1	0	0	0	769	1087	38	1	592	1	APEX1	14	20925288	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	52406	20925288	86424252	3242	7710										
RNASE10	338879	broad.mit.edu	37	chr14	20979224	20979224	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacctaacttctgttataaaAaagcacattattataacctg	3	8	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20979224A>C	ENST00000328444.5	+	1	613	c.594A>C	c.(592-594)aaA>aaC	p.K198N	RNASE10_ENST00000430083.1_Missense_Mutation_p.K226N	NM_001012975.1	NP_001012993.1	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	198					epithelial cell morphogenesis (GO:0003382)|heterotypic cell-cell adhesion (GO:0034113)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of sperm motility (GO:1902093)|regulation of fertilization (GO:0080154)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CTGTTATAAAAAAGCACATTA	0.413																																						ENST00000430083.1																			0				endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12						c.(676-678)aaA>aaC		ribonuclease, RNase A family, 10 (non-active)							48	48	48					14																	20979224		2203	4300	6503	SO:0001583	missense	338879					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:20979224A>C		CCDS32035.1	14q11.1	2004-11-16				ENSG00000182545		"Ribonucleases, RNase A"	19275	protein-coding gene	gene with protein product						12920233	Standard	XM_005267584		Approved	RNASE9	uc010tlj.2	Q5GAN6		ENST00000328444.5:c.594A>C	14.37:g.20979224A>C	ENSP00000333358:p.Lys198Asn		Somatic				RNASE10_ENST00000328444.5_Missense_Mutation_p.K198N	p.K226N			WXS	Illumina GAIIx	Phase_I	Q5GAN6	RNS10_HUMAN	Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)	2	1082	+	all_cancers(95;0.00123)		198					A2RUQ3|B4DKY4	Missense_Mutation	SNP	ENST00000328444.5	37	c.678A>C	CCDS32035.1	.	.	.	.	.	.	.	.	.	.	A	6.008	0.369815	0.11352	.	.	ENSG00000182545	ENST00000430083;ENST00000328444	T;T	0.72505	-0.66;-0.66	4.71	1.03	0.20045	Ribonuclease A, domain (3);	0.854936	0.10330	N	0.687736	T	0.46308	0.1386	N	0.03983	-0.305	0.09310	N	1	P;P	0.37914	0.611;0.611	B;B	0.40165	0.321;0.321	T	0.34850	-0.9812	10	0.33141	T	0.24	-18.7292	6.4944	0.22133	0.7053:0.0:0.2947:0.0	.	198;226	Q5GAN6;B4DKY4	RNS10_HUMAN;.	N	226;198	ENSP00000392996:K226N;ENSP00000333358:K198N	ENSP00000333358:K198N	K	+	3	2	RNASE10	20049064	0.980000	0.34600	0.136000	0.22124	0.017000	0.09413	1.031000	0.30165	0.078000	0.16900	0.533000	0.62120	AAA		0.413	RNASE10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411088.1	XM_292225		15	19	0	0	0	1	0	15	19					C	20979224	A	C	20979224	3	2	48	1	0	0	0	0	1	0	0	0	13415	11	1	4	596	4	RNASE10	14	20979224	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	53936	20979224	86370316	3243	7711										
METT11D1	64745	broad.mit.edu	37	chr14	21460309	21460309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcagacagaggagaaacttCgtggagcagtgctacacgca	12	10	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21460309C>T	ENST00000339374.6	+	4	624	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	METTL17_ENST00000382985.4_Missense_Mutation_p.R131C|METTL17_ENST00000555177.1_3'UTR|METTL17_ENST00000556670.2_Missense_Mutation_p.R131C	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	131					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GGAGAAACTTCGTGGAGCAGT	0.483																																						ENST00000339374.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(391-393)Cgt>Tgt		methyltransferase like 17							105	108	107					14																	21460309		2203	4300	6503	SO:0001583	missense	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21460309C>T	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"methyltransferase 11 domain containing 1"	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.391C>T	14.37:g.21460309C>T	ENSP00000343041:p.Arg131Cys		Somatic				METTL17_ENST00000556670.2_Missense_Mutation_p.R131C|METTL17_ENST00000382985.4_Missense_Mutation_p.R131C|METTL17_ENST00000555177.1_3'UTR	p.R131C	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	WXS	Illumina GAIIx	Phase_I	Q9H7H0	MET17_HUMAN			4	624	+			131					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.391C>T	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511527	0.27036	.	.	ENSG00000165792	ENST00000339374;ENST00000382985;ENST00000553564;ENST00000554751;ENST00000554283;ENST00000555670	T;T;T	0.34859	1.37;1.34;1.89	5.74	2.92	0.33932	.	0.807365	0.11210	N	0.587840	T	0.21347	0.0514	N	0.21448	0.665	0.36925	D	0.89157	B;B;B	0.26147	0.143;0.063;0.104	B;B;B	0.18561	0.022;0.007;0.015	T	0.16247	-1.0409	10	0.62326	D	0.03	.	2.9428	0.05836	0.1456:0.5581:0.141:0.1552	.	131;131;131	Q9H7H0-3;Q9H7H0;Q9H7H0-2	.;MET17_HUMAN;.	C	131;131;49;49;169;49	ENSP00000343041:R131C;ENSP00000372445:R131C;ENSP00000451478:R49C	ENSP00000343041:R131C	R	+	1	0	METTL17	20530149	0.185000	0.23213	0.228000	0.23943	0.459000	0.32528	0.488000	0.22371	0.352000	0.24053	0.650000	0.86243	CGT		0.483	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		32	57	0	0	0	1	0	32	57					T	21460309	C	T	21460309	3	4	48	1	0	0	0	0	1	0	0	0	9500	884	31	1	405	1	METT11D1	14	21460309	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	481085	21460309	85889231	3244	7712										
FLJ10357	55701	broad.mit.edu	37	chr14	21542507	21542507	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acactgcccccagaactgccCtctggacctccagggcttcc	8	19	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21542507C>T	ENST00000298694.4	+	3	745	c.618C>T	c.(616-618)ccC>ccT	p.P206P	ARHGEF40_ENST00000298693.3_Silent_p.P206P			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	206						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CAGAACTGCCCTCTGGACCTC	0.622																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(616-618)ccC>ccT		Rho guanine nucleotide exchange factor (GEF) 40							51	50	50					14																	21542507		2203	4300	6503	SO:0001819	synonymous_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21542507C>T		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.618C>T	14.37:g.21542507C>T			Somatic				ARHGEF40_ENST00000298693.3_Silent_p.P206P	p.P206P			WXS	Illumina GAIIx	Phase_I	Q8TER5	ARH40_HUMAN			3	745	+			206					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Silent	SNP	ENST00000298694.4	37	c.618C>T	CCDS32041.1																																																																																				0.622	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			18	42	0	0	0	1	0	18	42					T	21542507	C	T	21542507	2	4	48	1	0	0	0	0	0	0	0	1	5934	668	24	3		3	FLJ10357	14	21542507	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	82198	21542507	85807033	3245	7713										
RPGRIP1	57096	broad.mit.edu	37	chr14	21793213	21793213	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgtggagaaagtccatggCttggccacactgattggtaa	12	8	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21793213C>T	ENST00000400017.2	+	14	2199	c.2199C>T	c.(2197-2199)ggC>ggT	p.G733G	RPGRIP1_ENST00000206660.6_Silent_p.G733G|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Silent_p.G695G|RPGRIP1_ENST00000307974.4_Silent_p.G92G|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000553500.1_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	733					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)		AAGTCCATGGCTTGGCCACAC	0.512																																						ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(2197-2199)ggC>ggT		retinitis pigmentosa GTPase regulator interacting protein 1							114	106	109					14																	21793213		1993	4169	6162	SO:0001819	synonymous_variant	57096				response to stimulus|visual perception	cilium		g.chr14:21793213C>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.2199C>T	14.37:g.21793213C>T			Somatic				RPGRIP1_ENST00000557771.1_Silent_p.G695G|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000307974.4_Silent_p.G92G|RPGRIP1_ENST00000400017.2_Silent_p.G733G|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000382933.4_Intron	p.G733G			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)	14	2199	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	733					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	ENST00000400017.2	37	c.2199C>T	CCDS45080.1																																																																																				0.512	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		32	75	0	0	0	1	0	32	75					T	21793213	C	T	21793213	2	4	48	1	0	0	0	0	0	0	0	1	13564	784	28	3		3	RPGRIP1	14	21793213	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	250706	21793213	85556327	3246	7714										
RPGRIP1	57096	broad.mit.edu	37	chr14	21795831	21795831	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaacccaacggatctattcaAgtgcaactggattggaagtt	9	8	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21795831A>C	ENST00000400017.2	+	17	2760	c.2760A>C	c.(2758-2760)caA>caC	p.Q920H	RPGRIP1_ENST00000206660.6_Missense_Mutation_p.Q920H|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.Q577H|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.Q882H|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.Q279H|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.Q246H	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	920					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.Q920H(1)|p.Q536H(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)		GATCTATTCAAGTGCAACTGG	0.428																																						ENST00000206660.6																			2	Substitution - Missense(2)	p.Q920H(1)|p.Q536H(1)	lung(2)	breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(2758-2760)caA>caC		retinitis pigmentosa GTPase regulator interacting protein 1							87	82	84					14																	21795831		1843	4104	5947	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21795831A>C	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.2760A>C	14.37:g.21795831A>C	ENSP00000382895:p.Gln920His		Somatic				RPGRIP1_ENST00000557771.1_Missense_Mutation_p.Q882H|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.Q577H|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.Q279H|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.Q920H|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.Q246H	p.Q920H			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)	17	2760	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	920					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.2760A>C	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	A	6.290	0.421555	0.11928	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000307974	T;D;D;D;T;D;D	0.87887	-0.1;-2.31;-2.31;-2.31;-0.43;-2.31;-2.31	4.58	1.41	0.22369	.	0.413302	0.27176	N	0.020573	T	0.81650	0.4867	N	0.24115	0.695	0.09310	N	1	P;D;P;D;P;P	0.64830	0.875;0.966;0.875;0.994;0.875;0.883	P;P;P;P;P;B	0.62560	0.646;0.807;0.667;0.904;0.667;0.444	T	0.70831	-0.4765	10	0.10636	T	0.68	-6.815	3.5157	0.07723	0.3983:0.2162:0.3854:0.0	.	303;279;395;246;536;920	Q96KN7-2;Q96KN7-3;G3V3I7;Q96KN7-4;Q96KN7-5;Q96KN7	.;.;.;.;.;RPGR1_HUMAN	H	577;882;920;920;246;395;279	ENSP00000450445:Q577H;ENSP00000451219:Q882H;ENSP00000382895:Q920H;ENSP00000206660:Q920H;ENSP00000372391:Q246H;ENSP00000451262:Q395H;ENSP00000309721:Q279H	ENSP00000206660:Q920H	Q	+	3	2	RPGRIP1	20865671	0.076000	0.21285	0.375000	0.26029	0.873000	0.50193	-0.096000	0.11059	0.515000	0.28320	0.528000	0.53228	CAA		0.428	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		27	34	0	0	0	1	0	27	34					C	21795831	A	C	21795831	3	2	48	1	0	0	0	0	1	0	0	0	13564	69	3	4	2826	4	RPGRIP1	14	21795831	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2618	21795831	85553709	3247	7715										
SUPT16H	11198	broad.mit.edu	37	chr14	21828672	21828672	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatatccactttgtctcctcGaacagatgtgaagcggaagc	9	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21828672G>A	ENST00000216297.2	-	18	2415	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	693					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)		TTGTCTCCTCGAACAGATGTG	0.408																																						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.(2077-2079)Cga>Tga		suppressor of Ty 16 homolog (S. cerevisiae)							98	96	97					14																	21828672		2203	4300	6503	SO:0001587	stop_gained	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.chr14:21828672G>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.2077C>T	14.37:g.21828672G>A	ENSP00000216297:p.Arg693*		Somatic					p.R693*	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)	18	2415	-	all_cancers(95;0.00115)		693					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Nonsense_Mutation	SNP	ENST00000216297.2	37	c.2077C>T	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	G	42	9.532901	0.99198	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.6	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.763	13.3437	0.60559	0.0769:0.0:0.9231:0.0	.	.	.	.	X	693	.	ENSP00000216297:R693X	R	-	1	2	SUPT16H	20898512	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.611000	0.90905	1.373000	0.46208	0.655000	0.94253	CGA		0.408	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			20	46	0	0	0	1	0	20	46					A	21828672	G	A	21828672	4	1	48	1	0	0	0	0	0	1	0	0	15411	1066	37	1	1102	1	SUPT16H	14	21828672	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	32841	21828672	85520868	3248	7716										
CHD8	57680	broad.mit.edu	37	chr14	21859710	21859710	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaggggcatcctcacccaccAgcaaagtaccatccacctta	7	16	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21859710A>C	ENST00000557364.1	-	36	7240	c.6977T>G	c.(6976-6978)cTg>cGg	p.L2326R	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000430710.3_Missense_Mutation_p.L2047R|CHD8_ENST00000399982.2_Missense_Mutation_p.L2326R			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2326					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)		CTCACCCACCAGCAAAGTACC	0.552																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(6976-6978)cTg>cGg		chromodomain helicase DNA binding protein 8							46	47	46					14																	21859710		2029	4182	6211	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21859710A>C	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.6977T>G	14.37:g.21859710A>C	ENSP00000451601:p.Leu2326Arg		Somatic				CHD8_ENST00000557364.1_Missense_Mutation_p.L2326R|CHD8_ENST00000430710.3_Missense_Mutation_p.L2047R	p.L2326R	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)	35	7041	-	all_cancers(95;0.00121)		2326					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.6977T>G	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.951989	0.73787	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.63255	-0.03;-0.03;-0.03	5.42	5.42	0.78866	.	0.407359	0.24189	N	0.040731	T	0.74412	0.3713	L	0.52011	1.625	0.48632	D	0.999681	D	0.76494	0.999	D	0.83275	0.996	T	0.76691	-0.2866	10	0.87932	D	0	-9.2109	14.5778	0.68262	1.0:0.0:0.0:0.0	.	2047	Q9HCK8-2	.	R	2047;2326;2046;2326	ENSP00000406288:L2047R;ENSP00000382863:L2326R;ENSP00000451601:L2326R	ENSP00000262707:L2046R	L	-	2	0	CHD8	20929550	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.340000	0.90044	2.274000	0.75844	0.533000	0.62120	CTG		0.552	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		12	28	0	0	0	1	0	12	28					C	21859710	A	C	21859710	3	2	48	1	0	0	0	0	1	0	0	0	3333	188	7	4	780	4	CHD8	14	21859710	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	31038	21859710	85489830	3249	7717										
CHD8	57680	broad.mit.edu	37	chr14	21870219	21870219	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacaaaacttggagccttcaTcatcttcctccatgatggct	6	13	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21870219T>C	ENST00000557364.1	-	20	4222	c.3959A>G	c.(3958-3960)gAt>gGt	p.D1320G	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.D1041G|CHD8_ENST00000399982.2_Missense_Mutation_p.D1320G			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1320					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)		GGAGCCTTCATCATCTTCCTC	0.393																																						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.(3958-3960)gAt>gGt		chromodomain helicase DNA binding protein 8							145	139	141					14																	21870219		2034	4225	6259	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21870219T>C	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.3959A>G	14.37:g.21870219T>C	ENSP00000451601:p.Asp1320Gly		Somatic				CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Missense_Mutation_p.D1320G|CHD8_ENST00000430710.3_Missense_Mutation_p.D1041G	p.D1320G	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)	19	4023	-	all_cancers(95;0.00121)		1320					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.3959A>G	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.5|22.5	4.292267|4.292267	0.80914|0.80914	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.84589|.	-1.87;-1.87;-1.87|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69860|.	0.3158|.	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	D;D|.	0.62365|.	0.973;0.991|.	P;D|.	0.69824|.	0.877;0.966|.	T|.	0.67436|.	-0.5671|.	10|.	0.35671|.	T|.	0.21|.	-11.2676|-11.2676	15.8048|15.8048	0.78491|0.78491	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1320;1041|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	G|W	1041;1320;1040;1320|545	ENSP00000406288:D1041G;ENSP00000382863:D1320G;ENSP00000451601:D1320G|.	ENSP00000262707:D1040G|.	D|X	-|-	2|3	0|0	CHD8|CHD8	20940059|20940059	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.997000|7.997000	0.88414|0.88414	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	GAT|TGA		0.393	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		33	43	0	0	0	1	0	33	43					C	21870219	T	C	21870219	3	2	48	1	0	0	0	0	1	0	0	0	3333	1435	50	4	3862	4	CHD8	14	21870219	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	10509	21870219	85479321	3250	7718										
CHD8	57680	broad.mit.edu	37	chr14	21870647	21870647	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttgctctgcccaattcgatGacatcgtgcctgggcctggt	11	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21870647G>T	ENST00000557364.1	-	19	3993	c.3730C>A	c.(3730-3732)Cat>Aat	p.H1244N	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.H965N|CHD8_ENST00000399982.2_Missense_Mutation_p.H1244N			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1244	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)			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)		CCAATTCGATGACATCGTGCC	0.418																																						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.(3730-3732)Cat>Aat		chromodomain helicase DNA binding protein 8							64	62	63					14																	21870647		2203	4300	6503	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21870647G>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3730C>A	14.37:g.21870647G>T	ENSP00000451601:p.His1244Asn		Somatic				CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Missense_Mutation_p.H1244N|CHD8_ENST00000430710.3_Missense_Mutation_p.H965N	p.H1244N	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)	18	3794	-	all_cancers(95;0.00121)		1244			Helicase C-terminal.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.3730C>A	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.409224|4.409224	0.83340|0.83340	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	T;T;T|.	0.75704|.	-0.96;-0.96;-0.96|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Helicase, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.88168|.	0.6364|.	H|H	0.96398|0.96398	3.815|3.815	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	D|.	0.90997|.	0.4839|.	10|.	0.87932|.	D|.	0|.	-17.2883|-17.2883	18.6545|18.6545	0.91445|0.91445	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1244;965|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	N|X	965;1244;964;1244|469	ENSP00000406288:H965N;ENSP00000382863:H1244N;ENSP00000451601:H1244N|.	ENSP00000262707:H964N|.	H|S	-|-	1|2	0|0	CHD8|CHD8	20940487|20940487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.567000|9.567000	0.98161|0.98161	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.418	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		9	23	1	0	0.00448238	1	0.00465112	9	23					T	21870647	G	T	21870647	3	4	48	1	0	0	0	0	1	0	0	0	3333	1290	45	2	4095	2	CHD8	14	21870647	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	428	21870647	85478893	3251	7719										
SLC7A7	9056	broad.mit.edu	37	chr14	23242890	23242890	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atccatttctgcagcaactgAcatacacaggacctggaggt	9	11	1	1	rs386833810		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:23242890A>G	ENST00000397532.3	-	10	1990	c.1465T>C	c.(1465-1467)Tca>Cca	p.S489P	SLC7A7_ENST00000285850.7_Missense_Mutation_p.S489P|SLC7A7_ENST00000397529.2_Missense_Mutation_p.S489P|SLC7A7_ENST00000397528.4_Missense_Mutation_p.S489P|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000554517.1_Missense_Mutation_p.S223P|SLC7A7_ENST00000555702.1_Missense_Mutation_p.S489P			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	489			S -> P (in LPI). {ECO:0000269|PubMed:12402335, ECO:0000269|PubMed:17764084}.		amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GCAGCAACTGACATACACAGG	0.478																																						ENST00000397532.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	GRCh37	CM022850	SLC7A7	M		c.(1465-1467)Tca>Cca		solute carrier family 7 (amino acid transporter light chain, y+L system), member 7							134	115	121					14																	23242890		2203	4300	6503	SO:0001583	missense	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23242890A>G	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1465T>C	14.37:g.23242890A>G	ENSP00000380666:p.Ser489Pro		Somatic				SLC7A7_ENST00000397528.4_Missense_Mutation_p.S489P|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000555702.1_Missense_Mutation_p.S489P|SLC7A7_ENST00000397529.2_Missense_Mutation_p.S489P|SLC7A7_ENST00000285850.7_Missense_Mutation_p.S489P|SLC7A7_ENST00000554517.1_Missense_Mutation_p.S223P	p.S489P			WXS	Illumina GAIIx	Phase_I	Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	10	1990	-	all_cancers(95;8.44e-05)		489		S -> P (in LPI).			B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	37	c.1465T>C	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877780	0.51801	.	.	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517	D;D;D;D;D;D	0.91180	-2.71;-2.71;-2.71;-2.71;-2.71;-2.8	5.52	4.37	0.52481	.	0.269693	0.37623	N	0.002006	D	0.86969	0.6061	L	0.48642	1.525	0.49051	D	0.999747	B	0.32101	0.356	B	0.33121	0.158	D	0.84569	0.0654	10	0.62326	D	0.03	.	11.0317	0.47776	0.8441:0.1559:0.0:0.0	.	489	Q9UM01	YLAT1_HUMAN	P	489;489;489;462;489;489;223	ENSP00000285850:S489P;ENSP00000451881:S489P;ENSP00000380666:S489P;ENSP00000380663:S489P;ENSP00000380662:S489P;ENSP00000452083:S223P	ENSP00000285850:S489P	S	-	1	0	SLC7A7	22312730	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.669000	0.54561	0.912000	0.36772	0.460000	0.39030	TCA		0.478	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			19	35	0	0	0	1	0	19	35					G	23242890	A	G	23242890	3	3	48	1	0	0	0	0	1	0	0	0	14718	275	10	4	74	4	SLC7A7	14	23242890	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1372243	23242890	84106650	3252	7720										
CMTM5	116173	broad.mit.edu	37	chr14	23847687	23847687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccagtactaccagcgcttcGaccgaattaactggccctgt	8	15	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:23847687G>A	ENST00000339180.4	+	2	472	c.256G>A	c.(256-258)Gac>Aac	p.D86N	CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000359320.3_Missense_Mutation_p.D86N|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000555731.1_Missense_Mutation_p.D48N|CMTM5_ENST00000382809.2_Missense_Mutation_p.D86N			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	86	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CCAGCGCTTCGACCGAATTAA	0.567																																						ENST00000359320.3																			0				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8						c.(256-258)Gac>Aac		CKLF-like MARVEL transmembrane domain containing 5							190	172	178					14																	23847687		2203	4300	6503	SO:0001583	missense	0				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr14:23847687G>A	BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"chemokine-like factor super family 5", "chemokine-like factor superfamily 5"	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.256G>A	14.37:g.23847687G>A	ENSP00000344819:p.Asp86Asn		Somatic				CMTM5_ENST00000339180.4_Missense_Mutation_p.D86N|CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000382809.2_Missense_Mutation_p.D86N|CMTM5_ENST00000555731.1_Missense_Mutation_p.D48N	p.D86N	NM_138460.2	NP_612469.1	WXS	Illumina GAIIx	Phase_I	Q96DZ9	CKLF5_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)	2	700	+	all_cancers(95;2e-05)		86			MARVEL.		E9PH91|Q5PY48	Missense_Mutation	SNP	ENST00000339180.4	37	c.256G>A		.	.	.	.	.	.	.	.	.	.	G	6.117	0.389779	0.11581	.	.	ENSG00000166091	ENST00000359320;ENST00000382809;ENST00000339180;ENST00000555731	T;T;T;T	0.44482	1.67;0.92;1.67;0.98	5.94	3.03	0.35002	Marvel (1);	0.619992	0.16119	N	0.228747	T	0.28928	0.0718	L	0.29908	0.895	0.09310	N	0.999996	B;B;B;B	0.09022	0.0;0.002;0.0;0.001	B;B;B;B	0.08055	0.001;0.003;0.002;0.001	T	0.17961	-1.0352	10	0.42905	T	0.14	-4.2741	7.8528	0.29464	0.2129:0.1197:0.6674:0.0	.	48;86;86;86	C9JAI6;Q96DZ9;E9PH91;Q96DZ9-2	.;CKLF5_HUMAN;.;.	N	86;86;86;48	ENSP00000352270:D86N;ENSP00000372259:D86N;ENSP00000344819:D86N;ENSP00000451514:D48N	ENSP00000344819:D86N	D	+	1	0	CMTM5	22917527	0.006000	0.16342	0.706000	0.30403	0.186000	0.23388	1.297000	0.33400	0.431000	0.26258	-1.119000	0.02030	GAC		0.567	CMTM5-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000133708.2			64	104	0	0	0	1	0	64	104					A	23847687	G	A	23847687	3	1	48	1	0	0	0	0	1	0	0	0	3588	1058	37	1	262	1	CMTM5	14	23847687	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	604797	23847687	83501853	3253	7721										
MYH6	4624	broad.mit.edu	37	chr14	23874928	23874928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggccatgtcctcaatcttgtCgaacttgggtgggttctgct	12	10	3	0	rs397516758		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:23874928C>T	ENST00000356287.3	-	3	282	c.253G>A	c.(253-255)Gac>Aac	p.D85N	MYH6_ENST00000405093.3_Missense_Mutation_p.D85N			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	85	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)		TCAATCTTGTCGAACTTGGGT	0.582																																						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.(253-255)Gac>Aac		myosin, heavy chain 6, cardiac muscle, alpha							271	188	216					14																	23874928		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.chr14:23874928C>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.253G>A	14.37:g.23874928C>T	ENSP00000348634:p.Asp85Asn		Somatic				MYH6_ENST00000356287.3_Missense_Mutation_p.D85N	p.D85N	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)	4	323	-	all_cancers(95;2.54e-05)		85			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.253G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.257554	0.80246	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.72282	-0.64;-0.64	3.87	3.87	0.44632	Myosin head, motor domain (1);	.	.	.	.	T	0.72755	0.3500	M	0.74647	2.275	0.58432	D	0.999995	B;B	0.25563	0.129;0.129	B;B	0.29862	0.108;0.108	T	0.76377	-0.2981	9	0.72032	D	0.01	.	16.019	0.80468	0.0:1.0:0.0:0.0	.	85;85	D9YZU2;P13533	.;MYH6_HUMAN	N	85	ENSP00000386041:D85N;ENSP00000348634:D85N	ENSP00000348634:D85N	D	-	1	0	MYH6	22944768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.474000	0.81024	2.146000	0.66826	0.550000	0.68814	GAC		0.582	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			33	74	0	0	0	1	0	33	74					T	23874928	C	T	23874928	3	4	48	1	0	0	0	0	1	0	0	0	10047	884	31	1	5710	1	MYH6	14	23874928	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	27241	23874928	83474612	3254	7722										
MYH7	4625	broad.mit.edu	37	chr14	23902789	23902789	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgccaccctctcgagacacGatcttggccttgacaaactc	7	15	2	2	rs373145667		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:23902789G>A	ENST00000355349.3	-	3	315	c.153C>T	c.(151-153)atC>atT	p.I51I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	51					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)		CTCGAGACACGATCTTGGCCT	0.557													G|||	1	0.000199681	8e-04	0	5008	,	,		22654	0		0	False		,,,				2504	0					ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(151-153)atC>atT		myosin, heavy chain 7, cardiac muscle, beta		G		3,4403	8.1+/-20.4	0,3,2200	133	107	116		153	-4.4	0	14		116	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		51/1936	23902789	3,13003	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.chr14:23902789G>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.153C>T	14.37:g.23902789G>A			Somatic					p.I51I	NM_000257.2	NP_000248.2	WXS	Illumina GAIIx	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	3	315	-	all_cancers(95;2.54e-05)		51			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.153C>T	CCDS9601.1																																																																																				0.557	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		25	47	0	0	0	1	0	25	47					A	23902789	G	A	23902789	2	1	48	1	0	0	0	0	0	0	0	1	10048	1048	37	1		1	MYH7	14	23902789	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	27861	23902789	83446751	3255	7723										
JPH4	84502	broad.mit.edu	37	chr14	24040637	24040637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcatccaggggctccgtgtCggaaccttctgagtcctgcc	11	15	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24040637C>T	ENST00000397118.3	-	6	2205	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	JPH4_ENST00000356300.4_Missense_Mutation_p.D435N|JPH4_ENST00000544177.1_Missense_Mutation_p.D100N	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	435					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)		GGCTCCGTGTCGGAACCTTCT	0.617																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1303-1305)Gac>Aac		junctophilin 4							42	43	42					14																	24040637		2202	4300	6502	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040637C>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"junctophilin like 1"	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1303G>A	14.37:g.24040637C>T	ENSP00000380307:p.Asp435Asn		Somatic				JPH4_ENST00000544177.1_Missense_Mutation_p.D100N|JPH4_ENST00000356300.4_Missense_Mutation_p.D435N	p.D435N	NM_032452.2	NP_115828.2	WXS	Illumina GAIIx	Phase_I	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2205	-	all_cancers(95;0.000251)		435					D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.1303G>A	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199459	0.79015	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.69561	0.26;0.26;-0.41	5.17	5.17	0.71159	.	0.000000	0.31519	U	0.007514	T	0.74107	0.3673	L	0.38175	1.15	0.38337	D	0.943979	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.959	T	0.77104	-0.2711	10	0.54805	T	0.06	.	14.5198	0.67842	0.0:1.0:0.0:0.0	.	100;435	F5H1L9;Q96JJ6	.;JPH4_HUMAN	N	435;435;435;436;100	ENSP00000348648:D435N;ENSP00000380307:D435N;ENSP00000439562:D100N	ENSP00000267407:D436N	D	-	1	0	JPH4	23110477	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.085000	0.57657	2.575000	0.86900	0.655000	0.94253	GAC		0.617	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		19	42	0	0	0	1	0	19	42					T	24040637	C	T	24040637	3	4	48	1	0	0	0	0	1	0	0	0	7972	884	31	1	591	1	JPH4	14	24040637	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	137848	24040637	83308903	3256	7724										
LRRC16B	90668	broad.mit.edu	37	chr14	24533552	24533552	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagggtcctggaggaaagttCtaggtgtgatgcctaaacac	13	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24533552C>A	ENST00000342740.5	+	32	3231	c.3077C>A	c.(3076-3078)tCt>tAt	p.S1026Y	LRRC16B_ENST00000334420.7_Missense_Mutation_p.S122Y	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1026						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GAGGAAAGTTCTAGGTGTGAT	0.582																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(3076-3078)tCt>tAt		leucine rich repeat containing 16B							64	52	56					14																	24533552		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24533552C>A	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3077C>A	14.37:g.24533552C>A	ENSP00000340467:p.Ser1026Tyr		Somatic				LRRC16B_ENST00000334420.7_Missense_Mutation_p.S122Y	p.S1026Y	NM_138360.3	NP_612369.3	WXS	Illumina GAIIx	Phase_I	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	32	3231	+			1026					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.3077C>A	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511884	0.27036	.	.	ENSG00000186648	ENST00000342740;ENST00000334420	T;T	0.53857	0.6;0.6	5.28	5.28	0.74379	.	0.000000	0.42420	D	0.000712	T	0.56140	0.1965	L	0.46157	1.445	0.52501	D	0.999959	D;P	0.56968	0.978;0.651	P;B	0.53146	0.719;0.112	T	0.57063	-0.7875	10	0.51188	T	0.08	-3.8472	11.5174	0.50529	0.179:0.821:0.0:0.0	.	122;1026	Q8ND23-2;Q8ND23	.;LR16B_HUMAN	Y	1026;122	ENSP00000340467:S1026Y;ENSP00000334701:S122Y	ENSP00000334701:S122Y	S	+	2	0	LRRC16B	23603392	0.997000	0.39634	1.000000	0.80357	0.950000	0.60333	1.483000	0.35497	2.467000	0.83353	0.655000	0.94253	TCT		0.582	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		3	9	1	0	0.000602214	1	0.000636035	3	9					A	24533552	C	A	24533552	3	1	48	1	0	0	0	0	1	0	0	0	8981	913	32	2	3203	2	LRRC16B	14	24533552	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	492915	24533552	82815988	3257	7725										
RIPK3	11035	broad.mit.edu	37	chr14	24808484	24808484	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctaggcgcagcacgaattCgttatccagacttgccatgg	10	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24808484C>A	ENST00000216274.5	-	3	426	c.208G>T	c.(208-210)Gaa>Taa	p.E70*	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	70	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)		AGCACGAATTCGTTATCCAGA	0.562																																					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.(208-210)Gaa>Taa		receptor-interacting serine-threonine kinase 3							101	85	90					14																	24808484		2203	4300	6503	SO:0001587	stop_gained	11035				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	g.chr14:24808484C>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.208G>T	14.37:g.24808484C>A	ENSP00000216274:p.Glu70*		Somatic				RIPK3_ENST00000554338.1_5'UTR	p.E70*	NM_006871.3	NP_006862.2	WXS	Illumina GAIIx	Phase_I	Q9Y572	RIPK3_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	3	426	-			70			Protein kinase.		B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Nonsense_Mutation	SNP	ENST00000216274.5	37	c.208G>T	CCDS9628.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627158	0.46944	.	.	ENSG00000129465	ENST00000216274	.	.	.	4.14	-5.56	0.02529	.	1.713530	0.03081	N	0.158565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	3.1515	3.5035	0.07681	0.0921:0.4368:0.1517:0.3194	.	.	.	.	X	70	.	ENSP00000216274:E70X	E	-	1	0	RIPK3	23878324	0.001000	0.12720	0.000000	0.03702	0.051000	0.14879	-0.441000	0.06879	-1.137000	0.02888	0.561000	0.74099	GAA		0.562	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		37	63	1	0	1.47244e-24	1	2.06782e-24	37	63					A	24808484	C	A	24808484	4	1	48	1	0	0	0	0	0	1	0	0	13397	893	31	2	1380	2	RIPK3	14	24808484	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	274932	24808484	82541056	3258	7726										
NFATC4	4776	broad.mit.edu	37	chr14	24836377	24836377	+	5'Flank	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcctctccaagcctgacttTcccggaaactccagtccagg	9	16	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24836377T>A	ENST00000250373.4	+	0	0				NFATC4_ENST00000554344.1_5'Flank|NFATC4_ENST00000424781.2_5'Flank|NFATC4_ENST00000555453.1_5'Flank|NFATC4_ENST00000557451.1_5'Flank|NFATC4_ENST00000553879.1_5'Flank|NFATC4_ENST00000555590.1_5'Flank|NFATC4_ENST00000554050.1_5'Flank|NFATC4_ENST00000539237.2_5'Flank|NFATC4_ENST00000554966.1_5'Flank|NFATC4_ENST00000554661.1_5'Flank|NFATC4_ENST00000422617.3_5'Flank|NFATC4_ENST00000553708.1_5'Flank|NFATC4_ENST00000553469.1_5'Flank|NFATC4_ENST00000556169.1_5'Flank|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000413692.2_Missense_Mutation_p.F39L|NFATC4_ENST00000556279.1_5'Flank|NFATC4_ENST00000554591.1_Missense_Mutation_p.F39L	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4						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)		AGCCTGACTTTCCCGGAAACT	0.627																																						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.(115-117)ttT>ttA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							95	95	95					14																	24836377		1568	3582	5150	SO:0001631	upstream_gene_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.chr14:24836377T>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		14.37:g.24836377T>A	Exception_encountered		Somatic				NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554591.1_Missense_Mutation_p.F39L	p.F39L	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)	1	261	+			0					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.117T>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	T	5.258	0.233120	0.09969	.	.	ENSG00000100968	ENST00000413692;ENST00000554591	T;T	0.06294	3.32;3.34	4.64	4.64	0.57946	.	.	.	.	.	T	0.03053	0.0090	N	0.08118	0	0.50313	D	0.999866	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35201	-0.9798	9	0.07175	T	0.84	.	10.3619	0.43998	0.0:0.0:0.0:1.0	.	39;39;39	Q14934-2;Q14934-3;Q14934-11	.;.;.	L	39	ENSP00000388910:F39L;ENSP00000452039:F39L	ENSP00000388910:F39L	F	+	3	2	NFATC4	23906217	0.023000	0.18921	0.656000	0.29637	0.004000	0.04260	0.583000	0.23849	1.949000	0.56562	0.477000	0.44152	TTT		0.627	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		13	40	0	0	0	1	0	13	40					A	24836377	T	A	24836377	1	1	48	0	1	0	0	0	0	0	0	0	10374	1780	62	4		4	NFATC4	14	24836377	5'Flank	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	27893	24836377	82513163	3259	7727										
CMA1	1215	broad.mit.edu	37	chr14	24975706	24975706	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgatatcgtggtgaagagtaGaagtgttatattttggatga	13	1	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24975706G>T	ENST00000250378.3	-	3	343	c.314C>A	c.(313-315)tCt>tAt	p.S105Y	CMA1_ENST00000206446.4_5'UTR|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	105	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GTGAAGAGTAGAAGTGTTATA	0.433																																						ENST00000250378.3																			0				kidney(1)|lung(8)|pancreas(1)|prostate(1)	11						c.(313-315)tCt>tAt		chymase 1, mast cell							340	295	310					14																	24975706		2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24975706G>T		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.314C>A	14.37:g.24975706G>T	ENSP00000250378:p.Ser105Tyr		Somatic				CMA1_ENST00000206446.4_5'UTR|RP11-80A15.1_ENST00000555109.1_Intron	p.S105Y	NM_001836.3	NP_001827.1	WXS	Illumina GAIIx	Phase_I	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	3	343	-			105			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.314C>A	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.430078	0.00184	.	.	ENSG00000092009	ENST00000250378	D	0.89552	-2.53	4.78	-9.57	0.00562	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	4.327840	0.00166	N	0.000010	T	0.76926	0.4056	L	0.42581	1.335	0.09310	N	0.999995	B	0.10296	0.003	B	0.06405	0.002	T	0.66436	-0.5924	10	0.02654	T	1	.	0.9383	0.01350	0.4196:0.1899:0.1099:0.2806	.	105	P23946	CMA1_HUMAN	Y	105	ENSP00000250378:S105Y	ENSP00000250378:S105Y	S	-	2	0	CMA1	24045546	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.103000	0.00294	-4.627000	0.00039	-0.169000	0.13324	TCT		0.433	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			44	73	1	0	6.68952e-21	1	9.19686e-21	44	73					T	24975706	G	T	24975706	3	4	48	1	0	0	0	0	1	0	0	0	3576	942	33	2	441	2	CMA1	14	24975706	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	139329	24975706	82373834	3260	7728										
GZMB	3002	broad.mit.edu	37	chr14	25101296	25101296	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtagcctgaggggctgcacaGctctggtccgcttggccttt	14	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:25101296G>T	ENST00000216341.4	-	4	474	c.368C>A	c.(367-369)gCt>gAt	p.A123D	GZMB_ENST00000526004.1_Missense_Mutation_p.L78M|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382540.1_Missense_Mutation_p.A78D|GZMB_ENST00000415355.3_Missense_Mutation_p.A111D|GZMB_ENST00000382542.1_Missense_Mutation_p.A157D			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	123	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)		GGGCTGCACAGCTCTGGTCCG	0.637																																						ENST00000216341.4																			0				endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13						c.(367-369)gCt>gAt		granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)							54	52	53					14																	25101296		2203	4300	6503	SO:0001583	missense	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.chr14:25101296G>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.368C>A	14.37:g.25101296G>T	ENSP00000216341:p.Ala123Asp		Somatic				GZMB_ENST00000382542.1_Missense_Mutation_p.A157D|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382540.1_Missense_Mutation_p.A78D|GZMB_ENST00000415355.3_Missense_Mutation_p.A111D|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000526004.1_Missense_Mutation_p.L78M	p.A123D			WXS	Illumina GAIIx	Phase_I	P10144	GRAB_HUMAN		GBM - Glioblastoma multiforme(265;0.028)	4	474	-			123			Peptidase S1.		Q8N1D2|Q9UCC1	Missense_Mutation	SNP	ENST00000216341.4	37	c.368C>A	CCDS9633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.12|11.12	1.545557|1.545557	0.27652|0.27652	.|.	.|.	ENSG00000100453|ENSG00000100453	ENST00000415355;ENST00000216341;ENST00000382542;ENST00000382540;ENST00000382539|ENST00000526004	T;D;D;T|T	0.93019|0.80653	0.24;-3.15;-3.15;1.55|-1.4	5.3|5.3	3.33|3.33	0.38152|0.38152	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|.	0.34223|.	N|.	0.004156|.	T|T	0.79064|0.79064	0.4383|0.4383	L|L	0.43757|0.43757	1.38|1.38	0.35186|0.35186	D|D	0.772976|0.772976	B;B|.	0.32620|.	0.378;0.368|.	B;B|.	0.37888|.	0.218;0.26|.	T|T	0.82550|0.82550	-0.0401|-0.0401	10|7	0.48119|0.44086	T|T	0.1|0.13	.|.	10.5879|10.5879	0.45294|0.45294	0.0:0.0:0.6531:0.3469|0.0:0.0:0.6531:0.3469	.|.	111;123|.	Q6XGZ4;P10144|.	.;GRAB_HUMAN|.	D|M	111;123;157;78;28|78	ENSP00000387385:A111D;ENSP00000216341:A123D;ENSP00000371982:A157D;ENSP00000371980:A78D|ENSP00000434213:L78M	ENSP00000216341:A123D|ENSP00000434213:L78M	A|L	-|-	2|1	0|2	GZMB|GZMB	24171136|24171136	0.000000|0.000000	0.05858|0.05858	0.918000|0.918000	0.36340|0.36340	0.032000|0.032000	0.12392|0.12392	-0.544000|-0.544000	0.06077|0.06077	1.406000|1.406000	0.46857|0.46857	0.655000|0.655000	0.94253|0.94253	GCT|CTG		0.637	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131		12	46	1	0	1.08611e-07	1	1.25818e-07	12	46					T	25101296	G	T	25101296	3	4	48	1	0	0	0	0	1	0	0	0	6925	971	34	5	383	5	GZMB	14	25101296	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	125590	25101296	82248244	3261	7729										
G2E3	55632	broad.mit.edu	37	chr14	31077225	31077225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atggaccagaaaatacccagCcaattttagatgatgtttca	7	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31077225C>T	ENST00000206595.6	+	12	1604	c.1450C>T	c.(1450-1452)Cca>Tca	p.P484S	G2E3_ENST00000438909.2_Missense_Mutation_p.P438S|G2E3_ENST00000553504.1_Missense_Mutation_p.P514S	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	484	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAATACCCAGCCAATTTTAGA	0.363																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1450-1452)Cca>Tca		G2/M-phase specific E3 ubiquitin protein ligase							139	128	132					14																	31077225		2203	4300	6503	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31077225C>T	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1450C>T	14.37:g.31077225C>T	ENSP00000206595:p.Pro484Ser		Somatic				G2E3_ENST00000553504.1_Missense_Mutation_p.P514S|G2E3_ENST00000438909.2_Missense_Mutation_p.P438S	p.P484S	NM_017769.3	NP_060239.2	WXS	Illumina GAIIx	Phase_I	Q7L622	G2E3_HUMAN			12	1604	+			484			HECT.		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.1450C>T	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045419	0.93685	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.57107	0.42;0.42;0.42	5.43	5.43	0.79202	HECT (2);	0.052551	0.85682	D	0.000000	T	0.73418	0.3584	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75833	-0.3178	10	0.72032	D	0.01	-13.6808	19.2391	0.93875	0.0:1.0:0.0:0.0	.	484	Q7L622	G2E3_HUMAN	S	484;438;514	ENSP00000206595:P484S;ENSP00000391068:P438S;ENSP00000451653:P514S	ENSP00000206595:P484S	P	+	1	0	G2E3	30146976	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.829000	0.75314	2.510000	0.84645	0.591000	0.81541	CCA		0.363	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		4	64	0	0	0	1	0	4	64					T	31077225	C	T	31077225	3	4	48	1	0	0	0	0	1	0	0	0	6148	739	26	3	1492	3	G2E3	14	31077225	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5975929	31077225	76272315	3262	7730										
HECTD1	25831	broad.mit.edu	37	chr14	31585633	31585633	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgaggtgacggagtacattcGacttcttccaagagctctga	11	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31585633G>A	ENST00000399332.1	-	30	5915	c.5427C>T	c.(5425-5427)gtC>gtT	p.V1809V	HECTD1_ENST00000553700.1_Silent_p.V1809V	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1809					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GAGTACATTCGACTTCTTCCA	0.418																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(5425-5427)gtC>gtT		HECT domain containing E3 ubiquitin protein ligase 1							87	82	83					14																	31585633		1846	4093	5939	SO:0001819	synonymous_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31585633G>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5427C>T	14.37:g.31585633G>A			Somatic				HECTD1_ENST00000553700.1_Silent_p.V1809V	p.V1809V	NM_015382.2	NP_056197.2	WXS	Illumina GAIIx	Phase_I	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	30	5915	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1809					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	c.5427C>T	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	8.514	0.867232	0.17250	.	.	ENSG00000092148	ENST00000554882	.	.	.	5.44	-7.11	0.01542	.	.	.	.	.	T	0.35068	0.0919	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39663	-0.9603	4	.	.	.	-13.1592	1.8957	0.03257	0.3955:0.0823:0.2831:0.2391	.	.	.	.	L	175	.	.	S	-	2	0	HECTD1	30655384	0.605000	0.26941	0.901000	0.35422	0.946000	0.59487	-0.042000	0.12063	-1.251000	0.02494	-1.608000	0.00805	TCG		0.418	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			22	31	0	0	0	1	0	22	31					A	31585633	G	A	31585633	2	1	48	1	0	0	0	0	0	0	0	1	7048	1045	37	1		1	HECTD1	14	31585633	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	508408	31585633	75763907	3263	7731										
HECTD1	25831	broad.mit.edu	37	chr14	31614112	31614112	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgctttcaacagctttaaaAtggtcatcgtataaatctcg	6	8	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31614112A>C	ENST00000399332.1	-	16	3020	c.2532T>G	c.(2530-2532)caT>caG	p.H844Q	HECTD1_ENST00000553700.1_Missense_Mutation_p.H844Q|RNU6-541P_ENST00000384709.1_RNA	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	844					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CAGCTTTAAAATGGTCATCGT	0.343																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(2530-2532)caT>caG		HECT domain containing E3 ubiquitin protein ligase 1							75	71	72					14																	31614112		1868	4102	5970	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31614112A>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2532T>G	14.37:g.31614112A>C	ENSP00000382269:p.His844Gln		Somatic				HECTD1_ENST00000553700.1_Missense_Mutation_p.H844Q	p.H844Q	NM_015382.2	NP_056197.2	WXS	Illumina GAIIx	Phase_I	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	16	3020	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		844					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.2532T>G	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.017625	0.75161	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.74106	0.81;0.81;1.31;-0.81	5.54	4.66	0.58398	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.72334	0.3447	N	0.19112	0.55	0.58432	D	0.999996	D;P	0.54601	0.967;0.932	P;P	0.60886	0.522;0.88	T	0.74931	-0.3496	10	0.87932	D	0	-6.2031	9.006	0.36111	0.2357:0.0:0.7643:0.0	.	844;844	D3DS86;Q9ULT8	.;HECD1_HUMAN	Q	844;844;844;318;844	ENSP00000450697:H844Q;ENSP00000382269:H844Q;ENSP00000451860:H318Q;ENSP00000452015:H844Q	ENSP00000261312:H844Q	H	-	3	2	HECTD1	30683863	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.966000	0.40481	1.345000	0.45676	-0.147000	0.13772	CAT		0.343	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			15	18	0	0	0	1	0	15	18					C	31614112	A	C	31614112	3	2	48	1	0	0	0	0	1	0	0	0	7048	98	4	4	5412	4	HECTD1	14	31614112	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	28479	31614112	75735428	3264	7732										
HECTD1	25831	broad.mit.edu	37	chr14	31637631	31637631	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcttcatctttgtttgtatCtttctttttcttatcatctc	2	9	8	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31637631C>A	ENST00000399332.1	-	10	1983	c.1495G>T	c.(1495-1497)Gat>Tat	p.D499Y	HECTD1_ENST00000553700.1_Missense_Mutation_p.D499Y	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	499					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTGTTTGTATCTTTCTTTTTC	0.328																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(1495-1497)Gat>Tat		HECT domain containing E3 ubiquitin protein ligase 1							230	224	226					14																	31637631		1824	4078	5902	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31637631C>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.1495G>T	14.37:g.31637631C>A	ENSP00000382269:p.Asp499Tyr		Somatic				HECTD1_ENST00000553700.1_Missense_Mutation_p.D499Y	p.D499Y	NM_015382.2	NP_056197.2	WXS	Illumina GAIIx	Phase_I	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	10	1983	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		499					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.1495G>T	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583041	0.86748	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.72394	0.95;0.95;-0.65	5.26	5.26	0.73747	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.976;0.999	P;D	0.77557	0.549;0.99	T	0.79329	-0.1848	10	0.72032	D	0.01	-17.664	19.2271	0.93821	0.0:1.0:0.0:0.0	.	499;499	D3DS86;Q9ULT8	.;HECD1_HUMAN	Y	499	ENSP00000450697:D499Y;ENSP00000382269:D499Y;ENSP00000452015:D499Y	ENSP00000261312:D499Y	D	-	1	0	HECTD1	30707382	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.583000	0.82559	2.606000	0.88127	0.467000	0.42956	GAT		0.328	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			44	65	1	0	5.20006e-24	1	7.2863e-24	44	65					A	31637631	C	A	31637631	3	1	48	1	0	0	0	0	1	0	0	0	7048	913	32	2	6473	2	HECTD1	14	31637631	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	23519	31637631	75711909	3265	7733										
HEATR5A	25938	broad.mit.edu	37	chr14	31828138	31828138	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atggtcagtctcttgtaggaAaggacttagtatcaaaagat	10	5	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31828138A>C	ENST00000389961.3	-	14	2178	c.2179T>G	c.(2179-2181)Ttc>Gtc	p.F727V	HEATR5A_ENST00000543095.2_Missense_Mutation_p.F733V|HEATR5A_ENST00000404677.3_Missense_Mutation_p.F733V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.F440V|HEATR5A_ENST00000439348.1_Missense_Mutation_p.F727V			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	727										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCTTGTAGGAAAGGACTTAGT	0.393																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(2197-2199)Ttc>Gtc		HEAT repeat containing 5A							69	66	67					14																	31828138		1873	4106	5979	SO:0001583	missense	25938						binding	g.chr14:31828138A>C	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.2179T>G	14.37:g.31828138A>C	ENSP00000374611:p.Phe727Val		Somatic				HEATR5A_ENST00000439348.1_Missense_Mutation_p.F727V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.F440V|HEATR5A_ENST00000389961.3_Missense_Mutation_p.F727V|HEATR5A_ENST00000404677.3_Missense_Mutation_p.F733V	p.F733V	NM_015473.3	NP_056288.2	WXS	Illumina GAIIx	Phase_I	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	15	2381	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		727					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.2197T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.37|10.37	1.331347|1.331347	0.24167|0.24167	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000550366|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|T;T;T;T	.|0.39229	.|1.09;1.09;1.09;1.09	5.29|5.29	2.92|2.92	0.33932|0.33932	.|Armadillo-type fold (1);	0.282842|0.282842	0.29830|0.29830	N|N	0.011091|0.011091	T|T	0.22126|0.22126	0.0533|0.0533	N|N	0.08118|0.08118	0|0	0.20196|0.20196	N|N	0.99992|0.99992	.|B;B;B	.|0.06786	.|0.001;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.18587|0.18587	-1.0332|-1.0332	6|10	.|0.62326	.|D	.|0.03	.|.	8.9011|8.9011	0.35495|0.35495	0.7847:0.0:0.2153:0.0|0.7847:0.0:0.2153:0.0	.|.	.|733;727;727	.|B5MC49;Q86XA9-2;Q86XA9	.|.;.;HTR5A_HUMAN	C|V	375|727;727;440;733;733	.|ENSP00000374611:F727V;ENSP00000405407:F727V;ENSP00000408681:F440V;ENSP00000437968:F733V	.|ENSP00000374611:F727V	F|F	-|-	2|1	0|0	HEATR5A|HEATR5A	30897889|30897889	0.548000|0.548000	0.26473|0.26473	0.998000|0.998000	0.56505|0.56505	0.539000|0.539000	0.34962|0.34962	0.769000|0.769000	0.26604|0.26604	0.410000|0.410000	0.25675|0.25675	0.460000|0.460000	0.39030|0.39030	TTT|TTC		0.393	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		15	33	0	0	0	1	0	15	33					C	31828138	A	C	31828138	3	2	48	1	0	0	0	0	1	0	0	0	7040	14	1	4	4031	4	HEATR5A	14	31828138	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	190507	31828138	75521402	3266	7734										
NUBPL	80224	broad.mit.edu	37	chr14	32315743	32315743	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtaaacacaaaactcatattTttggtgctgatggtgcaagg	10	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:32315743T>G	ENST00000281081.7	+	9	805	c.760T>G	c.(760-762)Ttt>Gtt	p.F254V	NUBPL_ENST00000536705.1_Missense_Mutation_p.F158V|NUBPL_ENST00000418681.2_3'UTR	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	254					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		AACTCATATTTTTGGTGCTGA	0.383																																						ENST00000281081.7																			0				endometrium(1)|lung(2)|prostate(1)|skin(1)	5						c.(760-762)Ttt>Gtt		nucleotide binding protein-like							100	94	96					14																	32315743		1862	4112	5974	SO:0001583	missense	80224				mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding	g.chr14:32315743T>G	AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"Mitochondrial respiratory chain complex assembly factors"	20278	protein-coding gene	gene with protein product	"iron-sulfur protein required for NADH dehydrogenase"	613621	"chromosome 14 open reading frame 127"	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.760T>G	14.37:g.32315743T>G	ENSP00000281081:p.Phe254Val		Somatic				NUBPL_ENST00000418681.2_3'UTR|NUBPL_ENST00000536705.1_Missense_Mutation_p.F158V	p.F254V	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	WXS	Illumina GAIIx	Phase_I	Q8TB37	NUBPL_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)	9	805	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		254					B4DHZ1|Q86TZ4|Q9H9M2	Missense_Mutation	SNP	ENST00000281081.7	37	c.760T>G	CCDS41940.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.361549	0.82353	.	.	ENSG00000151413	ENST00000550649;ENST00000281081;ENST00000536705	T;T;T	0.38560	1.13;1.13;1.13	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.80154	0.4571	H	0.99719	4.725	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.986	D	0.88634	0.3171	10	0.87932	D	0	0.3219	13.789	0.63128	0.0:0.0:0.0:1.0	.	158;254	B4DWB0;Q8TB37	.;NUBPL_HUMAN	V	120;254;158	ENSP00000447618:F120V;ENSP00000281081:F254V;ENSP00000439286:F158V	ENSP00000281081:F254V	F	+	1	0	NUBPL	31385494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.597000	0.74118	2.145000	0.66743	0.533000	0.62120	TTT		0.383	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409519.1	NM_025152		9	12	0	0	0	1	0	9	12					G	32315743	T	G	32315743	3	3	48	1	0	0	0	0	1	0	0	0	10726	1841	64	4	794	4	NUBPL	14	32315743	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	487605	32315743	75033797	3267	7735										
ARHGAP5	394	broad.mit.edu	37	chr14	32560867	32560867	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaacttaaacaggaacataTaagaaaaaggagagaagagt	9	4	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:32560867T>C	ENST00000345122.3	+	2	1307	c.992T>C	c.(991-993)aTa>aCa	p.I331T	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.I331T|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.I331T|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.I331T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	331					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)		CAGGAACATATAAGAAAAAGG	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.(991-993)aTa>aCa		Rho GTPase activating protein 5							65	70	68					14																	32560867		2199	4285	6484	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560867T>C	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.992T>C	14.37:g.32560867T>C	ENSP00000371897:p.Ile331Thr		Somatic				ARHGAP5_ENST00000539826.2_Missense_Mutation_p.I331T|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.I331T|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.I331T|ARHGAP5_ENST00000433497.1_Intron	p.I331T	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	1307	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		331					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.992T>C	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.431101	0.43122	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.14960	0.0361	L	0.47716	1.5	0.80722	D	1	P;P	0.41546	0.754;0.64	B;B	0.42692	0.395;0.222	T	0.01238	-1.1409	10	0.42905	T	0.14	.	15.8548	0.78968	0.0:0.0:0.0:1.0	.	331;331	Q13017-2;Q13017	.;RHG05_HUMAN	T	331	ENSP00000452222:I331T;ENSP00000441692:I331T;ENSP00000371897:I331T;ENSP00000393307:I331T	ENSP00000371897:I331T	I	+	2	0	ARHGAP5	31630618	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.040000	0.89188	2.138000	0.66242	0.460000	0.39030	ATA		0.313	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		23	37	0	0	0	1	0	23	37					C	32560867	T	C	32560867	3	2	48	1	0	0	0	0	1	0	0	0	886	1406	49	4	994	4	ARHGAP5	14	32560867	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	245124	32560867	74788673	3268	7736										
ARHGAP5	394	broad.mit.edu	37	chr14	32561892	32561892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtcattgagttttattgggGaatttattgggaaaataaga	11	1	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:32561892G>A	ENST00000345122.3	+	2	2332	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E673K|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E673K|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E673K	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	673					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)		TTTTATTGGGGAATTTATTGG	0.358																																					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.(2017-2019)Gaa>Aaa		Rho GTPase activating protein 5							76	79	78					14																	32561892		2203	4297	6500	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561892G>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.2017G>A	14.37:g.32561892G>A	ENSP00000371897:p.Glu673Lys		Somatic				ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E673K|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E673K|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E673K|ARHGAP5_ENST00000433497.1_Intron	p.E673K	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	2332	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		673					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.2017G>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.563230	0.65538	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	5.54	5.54	0.83059	.	0.087450	0.85682	D	0.000000	T	0.19087	0.0458	L	0.39245	1.2	0.58432	D	0.999996	P;B	0.36465	0.554;0.419	P;B	0.45753	0.492;0.297	T	0.00688	-1.1609	10	0.62326	D	0.03	.	19.8487	0.96730	0.0:0.0:1.0:0.0	.	673;673	Q13017-2;Q13017	.;RHG05_HUMAN	K	673	ENSP00000452222:E673K;ENSP00000441692:E673K;ENSP00000371897:E673K;ENSP00000393307:E673K	ENSP00000371897:E673K	E	+	1	0	ARHGAP5	31631643	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.871000	0.87180	2.748000	0.94277	0.650000	0.86243	GAA		0.358	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		21	50	0	0	0	1	0	21	50					A	32561892	G	A	32561892	3	1	48	1	0	0	0	0	1	0	0	0	886	1175	41	3	2019	3	ARHGAP5	14	32561892	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1025	32561892	74787648	3269	7737										
AKAP6	9472	broad.mit.edu	37	chr14	33290942	33290942	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catgccatttctgaaaaacaAtccaaaggtcactggcatga	7	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:33290942A>G	ENST00000280979.4	+	13	4093	c.3923A>G	c.(3922-3924)aAt>aGt	p.N1308S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1308					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)		CTGAAAAACAATCCAAAGGTC	0.408																																					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.(3922-3924)aAt>aGt		A kinase (PRKA) anchor protein 6							54	50	51					14																	33290942		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33290942A>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.3923A>G	14.37:g.33290942A>G	ENSP00000280979:p.Asn1308Ser		Somatic				AKAP6_ENST00000557272.1_Intron	p.N1308S	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	4093	+	Breast(36;0.0388)|Prostate(35;0.15)		1308					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.3923A>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.982323	0.00448	.	.	ENSG00000151320	ENST00000280979	T	0.04234	3.67	5.92	-2.41	0.06562	.	0.639518	0.16344	N	0.218520	T	0.01254	0.0041	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45498	-0.9257	10	0.02654	T	1	-1.7428	9.7755	0.40616	0.3456:0.1234:0.531:0.0	.	1308	Q13023	AKAP6_HUMAN	S	1308	ENSP00000280979:N1308S	ENSP00000280979:N1308S	N	+	2	0	AKAP6	32360693	0.000000	0.05858	0.006000	0.13384	0.943000	0.58893	-0.368000	0.07543	-0.338000	0.08413	0.533000	0.62120	AAT		0.408	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		10	28	0	0	0	1	0	10	28					G	33290942	A	G	33290942	3	3	48	1	0	0	0	0	1	0	0	0	455	101	4	4	3969	4	AKAP6	14	33290942	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	729050	33290942	74058598	3270	7738										
AKAP6	9472	broad.mit.edu	37	chr14	33292587	33292587	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatggctctgtaaaacgtgtCtctgaaaataatggaaatgg	10	5	2	1	rs149001001		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:33292587C>A	ENST00000280979.4	+	13	5738	c.5568C>A	c.(5566-5568)gtC>gtA	p.V1856V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1856					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)		TAAAACGTGTCTCTGAAAATA	0.353																																					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.(5566-5568)gtC>gtA		A kinase (PRKA) anchor protein 6							72	73	73					14																	33292587		2203	4300	6503	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292587C>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.5568C>A	14.37:g.33292587C>A			Somatic				AKAP6_ENST00000557272.1_Intron	p.V1856V	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	5738	+	Breast(36;0.0388)|Prostate(35;0.15)		1856					A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.5568C>A	CCDS9644.1																																																																																				0.353	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		28	40	1	0	2.14196e-07	1	2.46404e-07	28	40					A	33292587	C	A	33292587	2	1	48	1	0	0	0	0	0	0	0	1	455	900	32	2		2	AKAP6	14	33292587	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1645	33292587	74056953	3271	7739										
NPAS3	64067	broad.mit.edu	37	chr14	34269487	34269487	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atctcagaacccatcaatttCgacaatgacagcagcatctg	6	12	3	2	rs199839757		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:34269487C>T	ENST00000356141.4	+	12	1974	c.1974C>T	c.(1972-1974)ttC>ttT	p.F658F	NPAS3_ENST00000548645.1_Silent_p.F628F|NPAS3_ENST00000551492.1_Silent_p.F663F|NPAS3_ENST00000357798.5_Silent_p.F645F|NPAS3_ENST00000346562.2_Silent_p.F626F			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	658					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCATCAATTTCGACAATGACA	0.617																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(1876-1878)ttC>ttT		neuronal PAS domain protein 3							72	72	72					14																	34269487		2203	4300	6503	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269487C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1974C>T	14.37:g.34269487C>T			Somatic				NPAS3_ENST00000551492.1_Silent_p.F663F|NPAS3_ENST00000357798.5_Silent_p.F645F|NPAS3_ENST00000356141.4_Silent_p.F658F|NPAS3_ENST00000548645.1_Silent_p.F628F	p.F626F	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	WXS	Illumina GAIIx	Phase_I	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	1952	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		658					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.1878C>T	CCDS53891.1																																																																																				0.617	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			17	56	0	0	0	1	0	17	56					T	34269487	C	T	34269487	2	4	48	1	0	0	0	0	0	0	0	1	10573	883	31	1		1	NPAS3	14	34269487	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	976900	34269487	73080053	3272	7740										
NPAS3	64067	broad.mit.edu	37	chr14	34270072	34270072	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacgcgcacgctgttaacttCgtggacgttaacagccccgg	11	13	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:34270072C>T	ENST00000356141.4	+	12	2559	c.2559C>T	c.(2557-2559)ttC>ttT	p.F853F	NPAS3_ENST00000548645.1_Silent_p.F823F|NPAS3_ENST00000551492.1_Silent_p.F858F|NPAS3_ENST00000357798.5_Silent_p.F840F|NPAS3_ENST00000346562.2_Silent_p.F821F			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	853					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CTGTTAACTTCGTGGACGTTA	0.647																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(2461-2463)ttC>ttT		neuronal PAS domain protein 3							42	30	34					14																	34270072		2203	4298	6501	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34270072C>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2559C>T	14.37:g.34270072C>T			Somatic				NPAS3_ENST00000551492.1_Silent_p.F858F|NPAS3_ENST00000357798.5_Silent_p.F840F|NPAS3_ENST00000356141.4_Silent_p.F853F|NPAS3_ENST00000548645.1_Silent_p.F823F	p.F821F	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	WXS	Illumina GAIIx	Phase_I	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	2537	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		853					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.2463C>T	CCDS53891.1																																																																																				0.647	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			11	9	0	0	0	1	0	11	9					T	34270072	C	T	34270072	2	4	48	1	0	0	0	0	0	0	0	1	10573	883	31	1		1	NPAS3	14	34270072	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	585	34270072	73079468	3273	7741										
RALGAPA1	253959	broad.mit.edu	37	chr14	36096694	36096694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttacggttatatcttctaaGcattcattagatgtcggagg	9	6	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:36096694G>A	ENST00000389698.3	-	33	5331	c.4941C>T	c.(4939-4941)tgC>tgT	p.C1647C	RALGAPA1_ENST00000382366.3_Silent_p.C1660C|RALGAPA1_ENST00000307138.6_Silent_p.C1647C|RALGAPA1_ENST00000258840.6_Silent_p.C1694C	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1647	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				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						TATCTTCTAAGCATTCATTAG	0.403																																						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.(5080-5082)tgC>tgT		Ral GTPase activating protein, alpha subunit 1 (catalytic)							83	87	86					14																	36096694		2202	4299	6501	SO:0001819	synonymous_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36096694G>A	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.4941C>T	14.37:g.36096694G>A			Somatic				RALGAPA1_ENST00000307138.6_Silent_p.C1647C|RALGAPA1_ENST00000382366.3_Silent_p.C1660C|RALGAPA1_ENST00000389698.3_Silent_p.C1647C	p.C1694C			WXS	Illumina GAIIx	Phase_I	Q6GYQ0	RGPA1_HUMAN			34	5472	-			1647			Minimal domain that binds to TCF3/E12 (By similarity).		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	c.5082C>T	CCDS32065.1																																																																																				0.403	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		24	43	0	0	0	1	0	24	43					A	36096694	G	A	36096694	2	1	48	1	0	0	0	0	0	0	0	1	13028	963	34	3		3	RALGAPA1	14	36096694	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1826622	36096694	71252846	3274	7742										
RALGAPA1	253959	broad.mit.edu	37	chr14	36133883	36133883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgagacacagcaacatcagGaatgttgggatgaagagaag	13	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:36133883G>A	ENST00000389698.3	-	26	4165	c.3775C>T	c.(3775-3777)Cct>Tct	p.P1259S	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1272S|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1259S|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.P1306S	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1259					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						GCAACATCAGGAATGTTGGGA	0.348																																						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.(3916-3918)Cct>Tct		Ral GTPase activating protein, alpha subunit 1 (catalytic)							64	62	63					14																	36133883		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36133883G>A	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.3775C>T	14.37:g.36133883G>A	ENSP00000374348:p.Pro1259Ser		Somatic				RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1259S|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1272S|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P1259S	p.P1306S			WXS	Illumina GAIIx	Phase_I	Q6GYQ0	RGPA1_HUMAN			27	4306	-			1259					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.3916C>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937456	0.34189	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.83	5.83	0.93111	.	0.154301	0.64402	D	0.000014	T	0.35682	0.0940	N	0.02916	-0.46	0.38419	D	0.946147	B;B;B;B	0.20780	0.048;0.001;0.007;0.001	B;B;B;B	0.14023	0.01;0.002;0.007;0.002	T	0.38436	-0.9661	10	0.14656	T	0.56	-16.9146	13.342	0.60551	0.072:0.0:0.928:0.0	.	1306;1272;1259;1259	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	S	1259;1259;1259;1306;1272;1306	ENSP00000374348:P1259S;ENSP00000302647:P1259S;ENSP00000258840:P1306S;ENSP00000371803:P1272S;ENSP00000451877:P1306S	ENSP00000258840:P1306S	P	-	1	0	RALGAPA1	35203634	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.273000	0.51623	2.764000	0.94973	0.557000	0.71058	CCT		0.348	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		10	23	0	0	0	1	0	10	23					A	36133883	G	A	36133883	3	1	48	1	0	0	0	0	1	0	0	0	13028	1174	41	3	2548	3	RALGAPA1	14	36133883	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	37189	36133883	71215657	3275	7743										
RALGAPA1	253959	broad.mit.edu	37	chr14	36155765	36155765	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taccgaggcattaccacttcGaagtcgttctgctataaact	7	11	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:36155765G>A	ENST00000389698.3	-	18	2932	c.2542C>T	c.(2542-2544)Cga>Tga	p.R848*	RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.R861*|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.R848*|RALGAPA1_ENST00000258840.6_Nonsense_Mutation_p.R895*	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	848					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						TTACCACTTCGAAGTCGTTCT	0.368																																						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.(2683-2685)Cga>Tga		Ral GTPase activating protein, alpha subunit 1 (catalytic)							45	41	43					14																	36155765		2203	4300	6503	SO:0001587	stop_gained	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36155765G>A	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.2542C>T	14.37:g.36155765G>A	ENSP00000374348:p.Arg848*		Somatic				RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.R848*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.R861*|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.R848*	p.R895*			WXS	Illumina GAIIx	Phase_I	Q6GYQ0	RGPA1_HUMAN			19	3073	-			848					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Nonsense_Mutation	SNP	ENST00000389698.3	37	c.2683C>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	41	8.555699	0.98861	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	.	.	.	5.97	5.97	0.96955	.	0.065135	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1002	20.4324	0.99085	0.0:0.0:1.0:0.0	.	.	.	.	X	848;848;848;895;861;895	.	ENSP00000258840:R895X	R	-	1	2	RALGAPA1	35225516	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	6.315000	0.72853	2.833000	0.97629	0.585000	0.79938	CGA		0.368	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		11	10	0	0	0	1	0	11	10					A	36155765	G	A	36155765	4	1	48	1	0	0	0	0	0	1	0	0	13028	1066	37	1	3813	1	RALGAPA1	14	36155765	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	21882	36155765	71193775	3276	7744										
MIPOL1	145282	broad.mit.edu	37	chr14	37969124	37969124	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttctcagtttacacaaatCtttatctcaagaagaaaatc	3	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:37969124C>A	ENST00000327441.7	+	13	1509	c.1043C>A	c.(1042-1044)tCt>tAt	p.S348Y	MIPOL1_ENST00000537471.1_Missense_Mutation_p.S348Y|MIPOL1_ENST00000536774.1_Missense_Mutation_p.S167Y|MIPOL1_ENST00000539062.2_Missense_Mutation_p.S317Y|MIPOL1_ENST00000556451.1_Missense_Mutation_p.S317Y|MIPOL1_ENST00000396294.2_Missense_Mutation_p.S348Y|MIPOL1_ENST00000545536.1_Missense_Mutation_p.S317Y	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	348						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)		TTACACAAATCTTTATCTCAA	0.274																																						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.(1042-1044)tCt>tAt		mirror-image polydactyly 1							32	34	33					14																	37969124		2198	4298	6496	SO:0001583	missense	145282							g.chr14:37969124C>A	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.1043C>A	14.37:g.37969124C>A	ENSP00000333539:p.Ser348Tyr		Somatic				MIPOL1_ENST00000556451.1_Missense_Mutation_p.S317Y|MIPOL1_ENST00000545536.1_Missense_Mutation_p.S317Y|MIPOL1_ENST00000539062.2_Missense_Mutation_p.S317Y|MIPOL1_ENST00000537471.1_Missense_Mutation_p.S348Y|MIPOL1_ENST00000536774.1_Missense_Mutation_p.S167Y|MIPOL1_ENST00000396294.2_Missense_Mutation_p.S348Y	p.S348Y	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)	13	1509	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		348					D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	c.1043C>A	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657473	0.67586	.	.	ENSG00000151338	ENST00000327441;ENST00000536774;ENST00000539062;ENST00000556451;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.67865	-0.21;-0.18;-0.29;-0.21;-0.21;-0.29	5.15	5.15	0.70609	.	0.083999	0.48286	D	0.000187	T	0.80660	0.4665	M	0.64997	1.995	0.38135	D	0.938269	D;D	0.89917	1.0;1.0	D;D	0.76575	0.982;0.988	D	0.83449	0.0047	10	0.66056	D	0.02	-5.6411	18.9908	0.92791	0.0:1.0:0.0:0.0	.	348;317	Q8TD10;Q49AL5	MIPO1_HUMAN;.	Y	348;167;317;317;348;348;317	ENSP00000333539:S348Y;ENSP00000438319:S317Y;ENSP00000450479:S317Y;ENSP00000379589:S348Y;ENSP00000444254:S348Y;ENSP00000442529:S317Y	ENSP00000333539:S348Y	S	+	2	0	MIPOL1	37038875	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.608000	0.67654	2.567000	0.86603	0.591000	0.81541	TCT		0.274	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		12	23	1	0	0.0809354	1	0.0819999	12	23					A	37969124	C	A	37969124	3	1	48	1	0	0	0	0	1	0	0	0	9602	913	32	2	1081	2	MIPOL1	14	37969124	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1813359	37969124	69380416	3277	7745										
SSTR1	6751	broad.mit.edu	37	chr14	38678969	38678969	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgttgcgccactggcccttCggtgcgctgctctgccgcct	12	16	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:38678969C>T	ENST00000267377.2	+	3	992	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	125					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)	ACTGGCCCTTCGGTGCGCTGC	0.597																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(373-375)ttC>ttT		somatostatin receptor 1	Octreotide(DB00104)						183	167	172					14																	38678969		2203	4300	6503	SO:0001819	synonymous_variant	0				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38678969C>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.375C>T	14.37:g.38678969C>T			Somatic					p.F125F	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	992	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		125						Silent	SNP	ENST00000267377.2	37	c.375C>T	CCDS9666.1																																																																																				0.597	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			74	172	0	0	0	1	0	74	172					T	38678969	C	T	38678969	2	4	48	1	0	0	0	0	0	0	0	1	15212	883	31	1		1	SSTR1	14	38678969	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	709845	38678969	68670571	3278	7746										
CLEC14A	161198	broad.mit.edu	37	chr14	38724396	38724396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcggccgtccttccccagctCgaagcccgtagcacattcgc	10	18	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:38724396C>T	ENST00000342213.2	-	1	1178	c.832G>A	c.(832-834)Gag>Aag	p.E278K		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	278	EGF-like.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.E278Q(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)		TTCCCCAGCTCGAAGCCCGTA	0.672																																						ENST00000342213.2																			1	Substitution - Missense(1)	p.E278Q(1)	cervix(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.(832-834)Gag>Aag		C-type lectin domain family 14, member A							54	60	58					14																	38724396		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724396C>T		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.832G>A	14.37:g.38724396C>T	ENSP00000353013:p.Glu278Lys		Somatic					p.E278K	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	1178	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		278			EGF-like.		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.832G>A	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	0.620	-0.821362	0.02755	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	D	0.95482	-3.72	3.91	-1.73	0.08081	Epidermal growth factor-like (1);	0.925114	0.08812	N	0.890179	D	0.86957	0.6058	N	0.19112	0.55	0.21719	N	0.999573	B	0.17465	0.022	B	0.11329	0.006	T	0.74873	-0.3516	10	0.10111	T	0.7	-4.2138	4.008	0.09610	0.1564:0.2864:0.46:0.0972	.	278	Q86T13	CLC14_HUMAN	K	278;43	ENSP00000353013:E278K	ENSP00000353013:E278K	E	-	1	0	CLEC14A	37794147	0.000000	0.05858	0.589000	0.28718	0.057000	0.15508	-0.683000	0.05179	-0.316000	0.08690	-0.218000	0.12543	GAG		0.672	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		46	90	0	0	0	1	0	46	90					T	38724396	C	T	38724396	3	4	48	1	0	0	0	0	1	0	0	0	3501	893	31	1	644	1	CLEC14A	14	38724396	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	45427	38724396	68625144	3279	7747										
TRAPPC6B	122553	broad.mit.edu	37	chr14	39639223	39639223	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgtggcagcactcaccaccTccccctgctccgcggacttg	10	18	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:39639223T>C	ENST00000330149.5	-	1	303	c.77A>G	c.(76-78)gAg>gGg	p.E26G	TRAPPC6B_ENST00000347691.5_Missense_Mutation_p.E26G|TRAPPC6B_ENST00000557764.1_5'UTR	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	26					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		ACTCACCACCTCCCCCTGCTC	0.547																																						ENST00000330149.5																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(76-78)gAg>gGg		trafficking protein particle complex 6B							189	142	158					14																	39639223		2203	4300	6503	SO:0001583	missense	122553				vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	g.chr14:39639223T>C	AK025437	CCDS9670.1, CCDS41947.1	14q13.3	2011-10-10			ENSG00000182400	ENSG00000182400		"Trafficking protein particle complex"	23066	protein-coding gene	gene with protein product		610397					Standard	NM_177452		Approved		uc001wut.1	Q86SZ2	OTTHUMG00000140259	ENST00000330149.5:c.77A>G	14.37:g.39639223T>C	ENSP00000330289:p.Glu26Gly		Somatic				TRAPPC6B_ENST00000557764.1_5'UTR|TRAPPC6B_ENST00000347691.5_Missense_Mutation_p.E26G	p.E26G	NM_001079537.1	NP_001073005.1	WXS	Illumina GAIIx	Phase_I	Q86SZ2	TPC6B_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)	1	303	-	Hepatocellular(127;0.213)		26					B3KPS2|Q5JPD6|Q86U35|Q86X35	Missense_Mutation	SNP	ENST00000330149.5	37	c.77A>G	CCDS41947.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907923	0.72868	.	.	ENSG00000182400	ENST00000330149;ENST00000347691;ENST00000554018	T;T;T	0.50813	0.73;0.73;0.73	5.33	5.33	0.75918	NO signalling/Golgi transport  ligand-binding domain (1);	0.096704	0.64402	D	0.000001	T	0.29749	0.0743	N	0.10685	0.025	0.80722	D	1	B;B;B	0.32876	0.0;0.388;0.154	B;B;B	0.31442	0.0;0.118;0.13	T	0.20773	-1.0265	10	0.45353	T	0.12	.	15.1314	0.72527	0.0:0.0:0.0:1.0	.	26;26;26	B4DFZ8;Q86SZ2-2;Q86SZ2	.;.;TPC6B_HUMAN	G	26	ENSP00000330289:E26G;ENSP00000335171:E26G;ENSP00000450670:E26G	ENSP00000330289:E26G	E	-	2	0	TRAPPC6B	38708974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.441000	0.52893	2.240000	0.73641	0.533000	0.62120	GAG		0.547	TRAPPC6B-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276775.1	NM_177452		7	38	0	0	0	1	0	7	38					C	39639223	T	C	39639223	3	2	48	1	0	0	0	0	1	0	0	0	16479	1551	54	4	423	4	TRAPPC6B	14	39639223	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	914827	39639223	67710317	3280	7748										
MIA2	117153	broad.mit.edu	37	chr14	39716361	39716361	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagtaccagtgaatcaaaaGactgggaagaagtagttgtt	12	4	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:39716361G>T	ENST00000280082.3	+	4	782	c.583G>T	c.(583-585)Gac>Tac	p.D195Y	MIA2_ENST00000556784.1_Missense_Mutation_p.D194Y|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.D195Y	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	195					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TGAATCAAAAGACTGGGAAGA	0.418																																						ENST00000553728.1																			0											c.(583-585)Gac>Tac									80	82	81					14																	39716361		2203	4300	6503	SO:0001583	missense	0							g.chr14:39716361G>T	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.583G>T	14.37:g.39716361G>T	ENSP00000280082:p.Asp195Tyr		Somatic				MIA2_ENST00000280082.3_Missense_Mutation_p.D195Y|MIA2_ENST00000556784.1_Missense_Mutation_p.D194Y	p.D195Y			WXS	Illumina GAIIx	Phase_I					4	796	+								A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	c.583G>T	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	G	1.902	-0.452753	0.04540	.	.	ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000280082;ENST00000556784;ENST00000553728	T;T;T	0.49720	0.77;0.78;3.19	5.11	-0.614	0.11590	.	1.685410	0.03510	N	0.219454	T	0.43100	0.1232	L	0.56769	1.78	0.09310	N	1	B;B	0.26400	0.148;0.076	B;B	0.29716	0.033;0.106	T	0.12268	-1.0554	9	.	.	.	-0.2398	3.168	0.06542	0.3787:0.1057:0.4084:0.1073	.	195;195	Q96PC5;Q96PC5-2	MIA2_HUMAN;.	Y	195;194;195	ENSP00000280082:D195Y;ENSP00000451934:D194Y;ENSP00000452252:D195Y	.	D	+	1	0	MIA2;RP11-407N17.3	38786112	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.157000	0.16402	-0.569000	0.06030	-1.822000	0.00598	GAC		0.418	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		6	61	1	0	0.248553	1	0.24944	6	61					T	39716361	G	T	39716361	3	4	48	1	0	0	0	0	1	0	0	0	9573	942	33	2	597	2	MIA2	14	39716361	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	77138	39716361	67633179	3281	7749										
CTAGE5	4253	broad.mit.edu	37	chr14	39784901	39784901	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttcagattatttcccatgaGaaaaaagcacatgataattg	6	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:39784901G>T	ENST00000280083.3	+	16	1685	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D	CTAGE5_ENST00000396165.4_Missense_Mutation_p.E428D|CTAGE5_ENST00000557038.1_Missense_Mutation_p.E377D|CTAGE5_ENST00000553352.1_Missense_Mutation_p.E428D|CTAGE5_ENST00000556148.1_Missense_Mutation_p.E382D|CTAGE5_ENST00000341749.3_Missense_Mutation_p.E445D|CTAGE5_ENST00000396158.2_Missense_Mutation_p.E462D|CTAGE5_ENST00000348007.3_Missense_Mutation_p.E457D|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.E992D|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.E428D|CTAGE5_ENST00000341502.5_Missense_Mutation_p.E457D			O15320	CTGE5_HUMAN	CTAGE family, member 5	457					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)		TTTCCCATGAGAAAAAAGCAC	0.269																																						ENST00000553728.1																			0											c.(2974-2976)gaG>gaT									80	94	89					14																	39784901		2201	4297	6498	SO:0001583	missense	0							g.chr14:39784901G>T	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.1371G>T	14.37:g.39784901G>T	ENSP00000280083:p.Glu457Asp		Somatic				CTAGE5_ENST00000557038.1_Missense_Mutation_p.E377D|CTAGE5_ENST00000396158.2_Missense_Mutation_p.E462D|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.E428D|CTAGE5_ENST00000280083.3_Missense_Mutation_p.E457D|CTAGE5_ENST00000556148.1_Missense_Mutation_p.E382D|CTAGE5_ENST00000341502.5_Missense_Mutation_p.E457D|CTAGE5_ENST00000341749.3_Missense_Mutation_p.E445D|CTAGE5_ENST00000396165.4_Missense_Mutation_p.E428D|CTAGE5_ENST00000348007.3_Missense_Mutation_p.E457D|CTAGE5_ENST00000553352.1_Missense_Mutation_p.E428D	p.E992D			WXS	Illumina GAIIx	Phase_I					20	3189	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.2976G>T	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102036	0.76983	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.68	2.79	0.32731	.	0.000000	0.33610	N	0.004726	T	0.68577	0.3016	M	0.87547	2.89	0.42767	D	0.993822	P;P;B;P;P;P	0.48640	0.779;0.461;0.314;0.461;0.913;0.461	P;P;B;P;P;P	0.57425	0.551;0.45;0.395;0.45;0.82;0.45	T	0.69312	-0.5178	9	.	.	.	.	9.3646	0.38217	0.2277:0.0:0.7723:0.0	.	419;462;457;457;428;445	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	D	992;445;377;419;428;457;462;457;382;457;428	ENSP00000452252:E992D;ENSP00000343897:E445D;ENSP00000450869:E377D;ENSP00000379468:E428D;ENSP00000339286:E457D;ENSP00000379462:E462D;ENSP00000280083:E457D;ENSP00000452562:E382D;ENSP00000343912:E457D;ENSP00000450449:E428D	.	E	+	3	2	CTAGE5;RP11-407N17.3	38854652	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.023000	0.41040	0.393000	0.25203	0.585000	0.79938	GAG		0.269	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		20	58	1	0	5.26018e-13	1	6.70247e-13	20	58					T	39784901	G	T	39784901	3	4	48	1	0	0	0	0	1	0	0	0	3996	933	33	2	1464	2	CTAGE5	14	39784901	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	68540	39784901	67564639	3282	7750										
FSCB	84075	broad.mit.edu	37	chr14	44975624	44975624	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggtgttcactagcaaaaatCtttcccgacgatttatgttt	8	8	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:44975624C>A	ENST00000340446.4	-	1	858	c.567G>T	c.(565-567)aaG>aaT	p.K189N	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	189						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TAGCAAAAATCTTTCCCGACG	0.378																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(565-567)aaG>aaT		fibrous sheath CABYR binding protein							139	145	143					14																	44975624		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975624C>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.567G>T	14.37:g.44975624C>A	ENSP00000344579:p.Lys189Asn		Somatic					p.K189N	NM_032135.3	NP_115511.3	WXS	Illumina GAIIx	Phase_I	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	858	-			189					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.567G>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	1.384	-0.582507	0.03827	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.23348	1.91	4.6	0.458	0.16670	.	.	.	.	.	T	0.13927	0.0337	N	0.25647	0.755	0.09310	N	1	B	0.22909	0.077	B	0.21917	0.037	T	0.31392	-0.9945	9	0.23891	T	0.37	-0.0152	3.1862	0.06602	0.1429:0.5454:0.1396:0.172	.	189	Q5H9T9	FSCB_HUMAN	N	189	ENSP00000344579:K189N	ENSP00000344579:K189N	K	-	3	2	FSCB	44045374	0.001000	0.12720	0.003000	0.11579	0.028000	0.11728	-0.270000	0.08584	0.120000	0.18254	0.655000	0.94253	AAG		0.378	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		35	92	1	0	3.90053e-15	1	5.12206e-15	35	92					A	44975624	C	A	44975624	3	1	48	1	0	0	0	0	1	0	0	0	6074	912	32	2	1914	2	FSCB	14	44975624	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5190723	44975624	62373916	3283	7751										
FSCB	84075	broad.mit.edu	37	chr14	44975941	44975941	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcctcaactaacttgacttCttttttctcttctacaatgg	3	11	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:44975941C>A	ENST00000340446.4	-	1	541	c.250G>T	c.(250-252)Gaa>Taa	p.E84*	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	84						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AACTTGACTTCTTTTTTCTCT	0.408																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(250-252)Gaa>Taa		fibrous sheath CABYR binding protein							192	182	186					14																	44975941		2203	4300	6503	SO:0001587	stop_gained	84075					cilium		g.chr14:44975941C>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.250G>T	14.37:g.44975941C>A	ENSP00000344579:p.Glu84*		Somatic					p.E84*	NM_032135.3	NP_115511.3	WXS	Illumina GAIIx	Phase_I	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	541	-			84					Q5H9U7|Q86YI2|Q9H0J3	Nonsense_Mutation	SNP	ENST00000340446.4	37	c.250G>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428948	0.83667	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	.	.	.	4.84	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.9765	6.7651	0.23562	0.1788:0.7254:0.0:0.0958	.	.	.	.	X	84	.	ENSP00000344579:E84X	E	-	1	0	FSCB	44045691	0.003000	0.15002	0.426000	0.26672	0.126000	0.20510	-0.318000	0.08050	2.413000	0.81919	0.555000	0.69702	GAA		0.408	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		46	105	1	0	1.41504e-22	1	1.969e-22	46	105					A	44975941	C	A	44975941	4	1	48	1	0	0	0	0	0	1	0	0	6074	922	32	2	2231	2	FSCB	14	44975941	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	317	44975941	62373599	3284	7752										
FAM179B	23116	broad.mit.edu	37	chr14	45433195	45433195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agctcttgtagatagcaaacGcagggtacgccaagcagctt	11	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:45433195G>A	ENST00000361577.3	+	1	1785	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	KLHL28_ENST00000553817.1_5'UTR|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.R524H|KLHL28_ENST00000355081.2_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.R524H	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	524								p.R524H(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GATAGCAAACGCAGGGTACGC	0.463																																						ENST00000361462.2																			1	Substitution - Missense(1)	p.R524H(1)	lung(1)	endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(1570-1572)cGc>cAc		family with sequence similarity 179, member B							124	114	117					14																	45433195		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45433195G>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1571G>A	14.37:g.45433195G>A	ENSP00000355045:p.Arg524His		Somatic				FAM179B_ENST00000382233.2_Missense_Mutation_p.R524H|FAM179B_ENST00000361577.3_Missense_Mutation_p.R524H|KLHL28_ENST00000553817.1_5'UTR	p.R524H			WXS	Illumina GAIIx	Phase_I	Q9Y4F4	F179B_HUMAN			1	1754	+			524					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.1571G>A	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072547	0.76415	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.79749	-1.3;-1.3;-1.3	4.59	3.65	0.41850	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	D	0.87958	0.6309	M	0.70595	2.14	0.53005	D	0.999963	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.87578	0.996;0.998;0.998;0.996	D	0.89105	0.3492	10	0.72032	D	0.01	-4.0239	13.8015	0.63204	0.0:0.0:0.8467:0.1533	.	524;524;524;524	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	H	524	ENSP00000355045:R524H;ENSP00000354917:R524H;ENSP00000371668:R524H	ENSP00000354917:R524H	R	+	2	0	FAM179B	44502945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.426000	0.59882	2.379000	0.81126	0.561000	0.74099	CGC		0.463	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		31	72	0	0	0	1	0	31	72					A	45433195	G	A	45433195	3	1	48	1	0	0	0	0	1	0	0	0	5511	1087	38	1	1573	1	FAM179B	14	45433195	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	457254	45433195	61916345	3285	7753										
FAM179B	23116	broad.mit.edu	37	chr14	45535797	45535797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttagagctgtaactgaagttCgtgaagtcaccagaaaatca	9	7	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:45535797C>T	ENST00000361577.3	+	16	4631	c.4417C>T	c.(4417-4419)Cgt>Tgt	p.R1473C	FAM179B_ENST00000361462.2_Missense_Mutation_p.R1526C|FAM179B_ENST00000382233.2_3'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1473										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AACTGAAGTTCGTGAAGTCAC	0.323																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(4576-4578)Cgt>Tgt		family with sequence similarity 179, member B							106	107	107					14																	45535797		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45535797C>T	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4417C>T	14.37:g.45535797C>T	ENSP00000355045:p.Arg1473Cys		Somatic				FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.R1473C	p.R1526C			WXS	Illumina GAIIx	Phase_I	Q9Y4F4	F179B_HUMAN			17	4759	+			1473					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.4576C>T	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500179	0.85176	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.19806	2.12;2.12	5.77	5.77	0.91146	Armadillo-type fold (1);	0.229018	0.45606	D	0.000358	T	0.36468	0.0968	L	0.56769	1.78	0.80722	D	1	D;D	0.65815	0.995;0.99	P;P	0.52710	0.707;0.702	T	0.05162	-1.0902	10	0.87932	D	0	-5.2786	17.7624	0.88468	0.0:1.0:0.0:0.0	.	1526;1473	G3XAE9;Q9Y4F4	.;F179B_HUMAN	C	1473;1526	ENSP00000355045:R1473C;ENSP00000354917:R1526C	ENSP00000354917:R1526C	R	+	1	0	FAM179B	44605547	0.998000	0.40836	0.998000	0.56505	0.988000	0.76386	3.139000	0.50577	2.726000	0.93360	0.561000	0.74099	CGT		0.323	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		16	31	0	0	0	1	0	16	31					T	45535797	C	T	45535797	3	4	48	1	0	0	0	0	1	0	0	0	5511	884	31	1	4479	1	FAM179B	14	45535797	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	102602	45535797	61813743	3286	7754										
FANCM	57697	broad.mit.edu	37	chr14	45624629	45624629	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaagttaaagaaattagaaGaagttgtaattgaacacttc	7	4	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:45624629G>A	ENST00000267430.5	+	8	1448	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	FANCM_ENST00000556036.1_Missense_Mutation_p.E455K|FANCM_ENST00000542564.2_Missense_Mutation_p.E429K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	455	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						GAAATTAGAAGAAGTTGTAAT	0.274								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.(1363-1365)Gaa>Aaa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							65	68	67					14																	45624629		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.chr14:45624629G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1363G>A	14.37:g.45624629G>A	ENSP00000267430:p.Glu455Lys		Somatic				FANCM_ENST00000556036.1_Missense_Mutation_p.E455K|FANCM_ENST00000542564.2_Missense_Mutation_p.E429K	p.E455K	NM_020937.2	NP_065988.1	WXS	Illumina GAIIx	Phase_I	Q8IYD8	FANCM_HUMAN			8	1448	+			455			Helicase C-terminal.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.1363G>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883189	0.91740	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	T;T;T;T	0.05382	3.45;3.45;3.45;3.45	5.56	5.56	0.83823	Helicase, C-terminal (1);	0.109084	0.64402	D	0.000009	T	0.14787	0.0357	M	0.74647	2.275	0.51233	D	0.999918	P;B;P	0.41524	0.573;0.402;0.753	B;B;B	0.42245	0.253;0.341;0.381	T	0.00583	-1.1659	10	0.52906	T	0.07	.	19.1315	0.93410	0.0:0.0:1.0:0.0	.	429;455;455	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	K	455;455;429;40	ENSP00000450596:E455K;ENSP00000267430:E455K;ENSP00000442493:E429K;ENSP00000452033:E40K	ENSP00000267430:E455K	E	+	1	0	FANCM	44694379	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.626000	0.83164	2.614000	0.88457	0.563000	0.77884	GAA		0.274	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		15	17	0	0	0	1	0	15	17					A	45624629	G	A	45624629	3	1	48	1	0	0	0	0	1	0	0	0	5679	943	33	3	1393	3	FANCM	14	45624629	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	88832	45624629	61724911	3287	7755										
FANCM	57697	broad.mit.edu	37	chr14	45633577	45633577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttaggtagtgaaacagtttCgtgacggtggttacaacacg	12	6	0	2	rs146151355		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:45633577C>T	ENST00000267430.5	+	10	1682	c.1597C>T	c.(1597-1599)Cgt>Tgt	p.R533C	FANCM_ENST00000556036.1_Missense_Mutation_p.R533C|FANCM_ENST00000542564.2_Missense_Mutation_p.R507C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	533	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						GAAACAGTTTCGTGACGGTGG	0.363								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.(1597-1599)Cgt>Tgt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M		C	CYS/ARG	0,4406		0,0,2203	109	107	108		1597	6	1	14	dbSNP_134	108	4,8596	3.7+/-12.6	0,4,4296	yes	missense	FANCM	NM_020937.2	180	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	533/2049	45633577	4,13002	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.chr14:45633577C>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.1597C>T	14.37:g.45633577C>T	ENSP00000267430:p.Arg533Cys		Somatic				FANCM_ENST00000556036.1_Missense_Mutation_p.R533C|FANCM_ENST00000542564.2_Missense_Mutation_p.R507C	p.R533C	NM_020937.2	NP_065988.1	WXS	Illumina GAIIx	Phase_I	Q8IYD8	FANCM_HUMAN			10	1682	+			533			Helicase C-terminal.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.1597C>T	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872323	0.91587	0.0	4.65E-4	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.77750	-1.12;-1.12;-1.12	6.04	6.04	0.98038	Helicase, C-terminal (3);	0.168401	0.52532	D	0.000073	D	0.89663	0.6780	M	0.87682	2.9	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.989	D;D;P	0.63877	0.919;0.918;0.84	D	0.90241	0.4286	10	0.87932	D	0	.	20.2347	0.98355	0.0:1.0:0.0:0.0	.	507;533;533	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	C	533;533;507	ENSP00000450596:R533C;ENSP00000267430:R533C;ENSP00000442493:R507C	ENSP00000267430:R533C	R	+	1	0	FANCM	44703327	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.645000	0.54389	2.881000	0.98747	0.650000	0.86243	CGT		0.363	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		14	24	0	0	0	1	0	14	24					T	45633577	C	T	45633577	3	4	48	1	0	0	0	0	1	0	0	0	5679	884	31	1	1635	1	FANCM	14	45633577	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	8948	45633577	61715963	3288	7756										
MDGA2	161357	broad.mit.edu	37	chr14	47530619	47530619	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgtgtaatgaccatccgcTcagaacttcttaatggacga	8	10	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:47530619T>G	ENST00000399232.2	-	7	1515	c.1151A>C	c.(1150-1152)gAg>gCg	p.E384A	MDGA2_ENST00000357362.3_Missense_Mutation_p.E155A|MDGA2_ENST00000426342.1_Missense_Mutation_p.E155A|MDGA2_ENST00000439988.3_Missense_Mutation_p.E453A	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	384	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GACCATCCGCTCAGAACTTCT	0.413																																						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.(463-465)gAg>gCg		MAM domain containing glycosylphosphatidylinositol anchor 2							155	139	144					14																	47530619		1894	4112	6006	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47530619T>G	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1151A>C	14.37:g.47530619T>G	ENSP00000382178:p.Glu384Ala		Somatic				MDGA2_ENST00000399232.2_Missense_Mutation_p.E453A|MDGA2_ENST00000439988.2_Missense_Mutation_p.E384A|MDGA2_ENST00000357362.3_Missense_Mutation_p.E155A	p.E155A	NM_182830.3	NP_878250.2	WXS	Illumina GAIIx	Phase_I	Q7Z553	MDGA2_HUMAN			7	1210	-			384			Ig-like 2.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.464A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.4|22.4	4.280650|4.280650	0.80692|0.80692	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362|ENST00000554762	T;T;T;T|.	0.42900|.	0.96;0.96;0.96;0.96|.	5.86|5.86	5.86|5.86	0.93980|0.93980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.51477|.	U|.	0.000089|.	T|.	0.58380|.	0.2118|.	L|L	0.37561|0.37561	1.115|1.115	0.80722|0.80722	D|D	1|1	P|.	0.50819|.	0.939|.	P|.	0.56960|.	0.81|.	T|.	0.54912|.	-0.8222|.	10|.	0.37606|.	T|.	0.19|.	.|.	15.0909|15.0909	0.72192|0.72192	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	384|.	Q7Z553|.	MDGA2_HUMAN|.	A|C	384;155;453;155|158	ENSP00000400011:E384A;ENSP00000405456:E155A;ENSP00000382178:E453A;ENSP00000349925:E155A|.	ENSP00000349925:E155A|.	E|X	-|-	2|3	0|0	MDGA2|MDGA2	46600369|46600369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.991000|7.991000	0.88244|0.88244	2.240000|2.240000	0.73641|0.73641	0.533000|0.533000	0.62120|0.62120	GAG|TGA		0.413	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		28	53	0	0	0	1	0	28	53					G	47530619	T	G	47530619	3	3	48	1	0	0	0	0	1	0	0	0	9416	1551	54	4	1763	4	MDGA2	14	47530619	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1897042	47530619	59818921	3289	7757										
POLE2	5427	broad.mit.edu	37	chr14	50118061	50118061	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttatttactaagtcttcacGgaagacagtaatttcctgtg	7	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:50118061G>T	ENST00000216367.5	-	16	1345	c.1246C>A	c.(1246-1248)Cgt>Agt	p.R416S	POLE2_ENST00000539565.2_Missense_Mutation_p.R390S|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Missense_Mutation_p.R416S	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	416					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|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)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	AAGTCTTCACGGAAGACAGTA	0.308																																						ENST00000539565.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10						c.(1168-1170)Cgt>Agt		polymerase (DNA directed), epsilon 2, accessory subunit							65	65	65					14																	50118061		2203	4300	6503	SO:0001583	missense	5427				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	DNA binding|DNA-directed DNA polymerase activity	g.chr14:50118061G>T	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"DNA polymerases"	9178	protein-coding gene	gene with protein product	"DNA polymerase epsilon subunit B"	602670	"polymerase (DNA directed), epsilon 2 (p59 subunit)"			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1246C>A	14.37:g.50118061G>T	ENSP00000216367:p.Arg416Ser		Somatic				POLE2_ENST00000216367.5_Missense_Mutation_p.R416S|POLE2_ENST00000554396.1_Missense_Mutation_p.R416S|POLE2_ENST00000556584.1_5'UTR	p.R390S	NM_001197330.1	NP_001184259.1	WXS	Illumina GAIIx	Phase_I	P56282	DPOE2_HUMAN			15	1386	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		416					A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	37	c.1168C>A	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314979	0.81358	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.27890	1.64;1.64;1.64	5.52	4.62	0.57501	DNA polymerase alpha/epsilon, subunit B (1);	0.045210	0.85682	D	0.000000	T	0.66237	0.2769	H	0.94734	3.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.83275	0.996;0.97;0.97	T	0.77411	-0.2598	10	0.87932	D	0	-8.5529	14.5239	0.67873	0.0707:0.0:0.9293:0.0	.	416;390;416	A4FU92;B4DDE6;P56282	.;.;DPOE2_HUMAN	S	416;390;416	ENSP00000216367:R416S;ENSP00000446313:R390S;ENSP00000451621:R416S	ENSP00000216367:R416S	R	-	1	0	POLE2	49187811	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.086000	0.71352	1.454000	0.47793	0.655000	0.94253	CGT		0.308	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692		6	16	1	0	0.000157383	1	0.000169016	6	16					T	50118061	G	T	50118061	3	4	48	1	0	0	0	0	1	0	0	0	12206	1116	39	5	353	5	POLE2	14	50118061	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2587442	50118061	57231479	3290	7758										
KLHDC2	23588	broad.mit.edu	37	chr14	50244960	50244960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattgggaacttttgaattcGatgaaacatctttttgggta	9	4	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:50244960G>A	ENST00000298307.5	+	5	1393	c.532G>A	c.(532-534)Gat>Aat	p.D178N	KLHDC2_ENST00000557247.1_Missense_Mutation_p.D178N|KLHDC2_ENST00000554589.1_Missense_Mutation_p.D178N|KLHDC2_ENST00000553538.1_3'UTR	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	178						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TTTTGAATTCGATGAAACATC	0.303																																						ENST00000298307.5																			0				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(532-534)Gat>Aat		kelch domain containing 2							135	135	135					14																	50244960		2203	4300	6503	SO:0001583	missense	23588					nucleus	protein binding	g.chr14:50244960G>A	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.532G>A	14.37:g.50244960G>A	ENSP00000298307:p.Asp178Asn		Somatic				KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Missense_Mutation_p.D178N|KLHDC2_ENST00000557247.1_Missense_Mutation_p.D178N	p.D178N	NM_014315.2	NP_055130.1	WXS	Illumina GAIIx	Phase_I	Q9Y2U9	KLDC2_HUMAN			5	1393	+	all_epithelial(31;0.000959)|Breast(41;0.0117)		178					B3KPF9|Q6IAF0|Q86TY9	Missense_Mutation	SNP	ENST00000298307.5	37	c.532G>A	CCDS9693.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319821	0.95682	.	.	ENSG00000165516	ENST00000298307;ENST00000554589;ENST00000557247	T;T;T	0.67698	3.59;3.27;-0.28	5.62	5.62	0.85841	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.78426	0.4281	L	0.52126	1.63	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	P;D;D	0.87578	0.837;0.998;0.995	T	0.73461	-0.3975	10	0.27785	T	0.31	-23.1518	19.662	0.95877	0.0:0.0:1.0:0.0	.	178;178;178	G3V2H2;G3V3U8;Q9Y2U9	.;.;KLDC2_HUMAN	N	178	ENSP00000298307:D178N;ENSP00000451439:D178N;ENSP00000450658:D178N	ENSP00000298307:D178N	D	+	1	0	KLHDC2	49314710	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.213000	0.95133	2.649000	0.89929	0.650000	0.86243	GAT		0.303	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1			21	35	0	0	0	1	0	21	35					A	50244960	G	A	50244960	3	1	48	1	0	0	0	0	1	0	0	0	8365	1058	37	1	550	1	KLHDC2	14	50244960	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	126899	50244960	57104580	3291	7759										
ATL1	51062	broad.mit.edu	37	chr14	51057742	51057742	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgagcgagagaccacaggAattcagatatggagtgaaat	12	6	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:51057742A>C	ENST00000358385.6	+	3	607	c.366A>C	c.(364-366)ggA>ggC	p.G122G	ATL1_ENST00000357032.3_Silent_p.G122G|ATL1_ENST00000354525.4_Silent_p.G122G|ATL1_ENST00000441560.2_Silent_p.G122G	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	122	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)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AGACCACAGGAATTCAGATAT	0.353																																						ENST00000441560.2																			0				central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						c.(364-366)ggA>ggC		atlastin GTPase 1							84	81	82					14																	51057742		2203	4300	6503	SO:0001819	synonymous_variant	51062				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	g.chr14:51057742A>C	AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"atlastin"	606439	"spastic paraplegia 3A (autosomal dominant)"	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.366A>C	14.37:g.51057742A>C			Somatic				ATL1_ENST00000357032.3_Silent_p.G122G|ATL1_ENST00000354525.4_Silent_p.G122G|ATL1_ENST00000358385.6_Silent_p.G122G	p.G122G	NM_001127713.1	NP_001121185.1	WXS	Illumina GAIIx	Phase_I	Q8WXF7	ATLA1_HUMAN			4	847	+			122					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Silent	SNP	ENST00000358385.6	37	c.366A>C	CCDS9700.1																																																																																				0.353	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2			16	17	0	0	0	1	0	16	17					C	51057742	A	C	51057742	2	2	48	1	0	0	0	0	0	0	0	1	1106	233	9	4		4	ATL1	14	51057742	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	812782	51057742	56291798	3292	7760										
SAV1	60485	broad.mit.edu	37	chr14	51132015	51132015	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgctttctctgaccatcaaaAaaattgtctgaataataata	4	8	3	2	rs147005969	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:51132015A>C	ENST00000324679.4	-	2	780	c.417T>G	c.(415-417)ttT>ttG	p.F139L	RP11-248J18.2_ENST00000602954.1_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	139					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)					GACCATCAAAAAAATTGTCTG	0.393													A|||	2	0.000399361	8e-04	0	5008	,	,		17227	0		0.001	False		,,,				2504	0					ENST00000324679.4																			0				breast(1)|kidney(2)|lung(2)|prostate(1)	6						c.(415-417)ttT>ttG		salvador homolog 1 (Drosophila)		A	LEU/PHE	1,4405	2.1+/-5.4	0,1,2202	85	82	83		417	5.5	1	14	dbSNP_134	83	25,8571	17.3+/-56.4	0,25,4273	no	missense	SAV1	NM_021818.2	22	0,26,6475	CC,CA,AA		0.2908,0.0227,0.2	benign	139/384	51132015	26,12976	2203	4298	6501	SO:0001583	missense	60485				hippo signaling cascade	cytoplasm|nucleus	identical protein binding	g.chr14:51132015A>C	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.417T>G	14.37:g.51132015A>C	ENSP00000324729:p.Phe139Leu		Somatic					p.F139L	NM_021818.3	NP_068590.1	WXS	Illumina GAIIx	Phase_I	Q9H4B6	SAV1_HUMAN			2	780	-	all_epithelial(31;0.000611)|Breast(41;0.0333)		139					A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Missense_Mutation	SNP	ENST00000324679.4	37	c.417T>G	CCDS9701.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	14.22	2.469326	0.43839	2.27E-4	0.002908	ENSG00000151748	ENST00000555720;ENST00000324679;ENST00000535862;ENST00000553731	T;T	0.47528	0.84;0.91	5.49	5.49	0.81192	.	0.222920	0.48286	D	0.000191	T	0.28167	0.0695	L	0.27053	0.805	0.38412	D	0.945969	B	0.02656	0.0	B	0.04013	0.001	T	0.22977	-1.0201	10	0.12766	T	0.61	-10.6858	4.6845	0.12752	0.7399:0.0:0.0912:0.1689	.	139	Q9H4B6	SAV1_HUMAN	L	71;139;106;23	ENSP00000451492:F71L;ENSP00000324729:F139L	ENSP00000324729:F139L	F	-	3	2	SAV1	50201765	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.922000	0.40045	2.081000	0.62600	0.460000	0.39030	TTT		0.393	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			28	29	0	0	0	1	0	28	29					C	51132015	A	C	51132015	3	2	48	1	0	0	0	0	1	0	0	0	13871	11	1	4	750	4	SAV1	14	51132015	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	74273	51132015	56217525	3293	7761										
NIN	51199	broad.mit.edu	37	chr14	51210967	51210967	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attacttctactaccttatcGacacagctatttaattcctc	2	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:51210967G>A	ENST00000382041.3	-	23	5371	c.5181C>T	c.(5179-5181)gtC>gtT	p.V1727V	NIN_ENST00000530997.2_Silent_p.V1727V|NIN_ENST00000245441.5_Silent_p.V1727V|NIN_ENST00000382043.4_Silent_p.V1014V|NIN_ENST00000324330.9_Silent_p.V1727V|NIN_ENST00000453196.1_Silent_p.V1727V|NIN_ENST00000389868.3_Silent_p.V1014V	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1727					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)					CTACCTTATCGACACAGCTAT	0.408			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.(5179-5181)gtC>gtT		ninein (GSK3B interacting protein)							247	210	223					14																	51210967		2203	4300	6503	SO:0001819	synonymous_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51210967G>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.5181C>T	14.37:g.51210967G>A			Somatic				NIN_ENST00000389868.3_Silent_p.V1014V|NIN_ENST00000324330.9_Silent_p.V1727V|NIN_ENST00000530997.2_Silent_p.V1727V|NIN_ENST00000382043.4_Silent_p.V1014V|NIN_ENST00000453196.1_Silent_p.V1727V|NIN_ENST00000382041.3_Silent_p.V1727V	p.V1727V	NM_020921.3	NP_065972.3	WXS	Illumina GAIIx	Phase_I	Q8N4C6	NIN_HUMAN			23	5371	-	all_epithelial(31;0.00244)|Breast(41;0.127)		1727					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	c.5181C>T	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	0.066	-1.213197	0.01555	.	.	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.84	-7.15	0.01521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0993	2.7421	0.05256	0.1453:0.4365:0.1836:0.2346	.	.	.	.	X	1218	.	.	R	-	1	2	NIN	50280717	0.003000	0.15002	0.002000	0.10522	0.069000	0.16628	-0.835000	0.04386	-1.457000	0.01919	-1.139000	0.01908	CGA		0.408	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		25	55	0	0	0	1	0	25	55					A	51210967	G	A	51210967	2	1	48	1	0	0	0	0	0	0	0	1	10426	1045	37	1		1	NIN	14	51210967	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	78952	51210967	56138573	3294	7762										
TXNDC16	57544	broad.mit.edu	37	chr14	52949572	52949572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagtactatgctgtcagaaGccatcactgttgcattaaat	8	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:52949572G>A	ENST00000281741.4	-	13	1591	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	407	Thioredoxin.				cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GCTGTCAGAAGCCATCACTGT	0.368																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(1219-1221)gCt>gTt		thioredoxin domain containing 16							126	110	115					14																	52949572		2203	4300	6503	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52949572G>A	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1220C>T	14.37:g.52949572G>A	ENSP00000281741:p.Ala407Val		Somatic				TXNDC16_ENST00000554399.1_Intron	p.A407V	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	WXS	Illumina GAIIx	Phase_I	Q9P2K2	TXD16_HUMAN			13	1591	-	Breast(41;0.0716)		407			Thioredoxin.		A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.1220C>T	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710595	0.48517	.	.	ENSG00000087301	ENST00000281741	T	0.39787	1.06	5.19	5.19	0.71726	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.506973	0.22822	N	0.055205	T	0.39682	0.1087	L	0.42245	1.32	0.31295	N	0.688979	P;P	0.40534	0.72;0.714	B;B	0.40782	0.334;0.34	T	0.44726	-0.9309	10	0.31617	T	0.26	-31.1632	16.2058	0.82131	0.0:0.0:1.0:0.0	.	402;407	B7ZME4;Q9P2K2	.;TXD16_HUMAN	V	407	ENSP00000281741:A407V	ENSP00000281741:A407V	A	-	2	0	TXNDC16	52019322	1.000000	0.71417	0.997000	0.53966	0.526000	0.34562	4.622000	0.61240	2.426000	0.82243	0.460000	0.39030	GCT		0.368	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		9	12	0	0	0	1	0	9	12					A	52949572	G	A	52949572	3	1	48	1	0	0	0	0	1	0	0	0	16810	971	34	3	1293	3	TXNDC16	14	52949572	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1738605	52949572	54399968	3295	7763										
STYX	6815	broad.mit.edu	37	chr14	53224469	53224469	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catgtttttcaggaaaagttCttgtgcatggaaatgcaggg	12	5	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:53224469C>A	ENST00000354586.4	+	7	642	c.349C>A	c.(349-351)Ctt>Att	p.L117I	STYX_ENST00000442123.2_Missense_Mutation_p.L117I|STYX_ENST00000556861.1_Intron	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	117	Tyrosine-protein phosphatase.				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)	p.L117I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					AGGAAAAGTTCTTGTGCATGG	0.318																																						ENST00000354586.4																			1	Substitution - Missense(1)	p.L117I(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(349-351)Ctt>Att		serine/threonine/tyrosine interacting protein							69	74	72					14																	53224469		2203	4295	6498	SO:0001583	missense	6815				protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity	g.chr14:53224469C>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.349C>A	14.37:g.53224469C>A	ENSP00000346599:p.Leu117Ile		Somatic				STYX_ENST00000442123.2_Missense_Mutation_p.L117I|STYX_ENST00000556861.1_Intron	p.L117I	NM_145251.3	NP_660294.1	WXS	Illumina GAIIx	Phase_I	Q8WUJ0	STYX_HUMAN			7	642	+	Breast(41;0.176)		117			Tyrosine-protein phosphatase.		B9EJG0|Q99850	Missense_Mutation	SNP	ENST00000354586.4	37	c.349C>A	CCDS9711.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963730	0.92791	.	.	ENSG00000198252	ENST00000442123;ENST00000354586	T;T	0.69040	-0.37;-0.37	5.58	5.58	0.84498	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.87321	0.6148	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89824	0.3991	10	0.87932	D	0	.	19.9414	0.97163	0.0:1.0:0.0:0.0	.	117	Q8WUJ0	STYX_HUMAN	I	117	ENSP00000403214:L117I;ENSP00000346599:L117I	ENSP00000346599:L117I	L	+	1	0	STYX	52294219	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.628000	0.74262	2.779000	0.95612	0.650000	0.86243	CTT		0.318	STYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276902.1	NM_145251		18	18	1	0	1.45105e-14	1	1.8931e-14	18	18					A	53224469	C	A	53224469	3	1	48	1	0	0	0	0	1	0	0	0	15375	913	32	2	375	2	STYX	14	53224469	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	274897	53224469	54125071	3296	7764										
DDHD1	80821	broad.mit.edu	37	chr14	53619307	53619307	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcttgtcctccttgtagaaCcagcgtacctcctccgggcc	8	16	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:53619307C>T	ENST00000323669.5	-	1	509	c.510G>A	c.(508-510)tgG>tgA	p.W170*	DDHD1_ENST00000395606.1_Nonsense_Mutation_p.W170*|DDHD1_ENST00000357758.3_Nonsense_Mutation_p.W170*|RP11-547D23.1_ENST00000554235.1_RNA|AL356020.1_ENST00000584587.1_RNA	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	170					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)					CCTTGTAGAACCAGCGTACCT	0.672																																						ENST00000357758.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(508-510)tgG>tgA		DDHD domain containing 1							51	42	45					14																	53619307		2202	4300	6502	SO:0001587	stop_gained	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53619307C>T	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.510G>A	14.37:g.53619307C>T	ENSP00000327104:p.Trp170*		Somatic				DDHD1_ENST00000323669.5_Nonsense_Mutation_p.W170*|DDHD1_ENST00000395606.1_Nonsense_Mutation_p.W170*	p.W170*	NM_030637.2	NP_085140.2	WXS	Illumina GAIIx	Phase_I	Q8NEL9	DDHD1_HUMAN			1	693	-	Breast(41;0.037)		170					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Nonsense_Mutation	SNP	ENST00000323669.5	37	c.510G>A	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	C	37	6.121264	0.97300	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758	.	.	.	3.57	3.57	0.40892	.	0.158451	0.46145	D	0.000319	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0972	15.3418	0.74303	0.0:1.0:0.0:0.0	.	.	.	.	X	170	.	ENSP00000327104:W170X	W	-	3	0	DDHD1	52689057	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.657000	0.74402	1.805000	0.52779	0.462000	0.41574	TGG		0.672	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			13	39	0	0	0	1	0	13	39					T	53619307	C	T	53619307	4	4	48	1	0	0	0	0	0	1	0	0	4328	508	18	3	2269	3	DDHD1	14	53619307	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	394838	53619307	53730233	3297	7765										
BMP4	652	broad.mit.edu	37	chr14	54418862	54418862	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttcttccccgtctcaggtaTcaaactagcatggctcgcgc	8	14	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:54418862T>C	ENST00000245451.4	-	3	472	c.79A>G	c.(79-81)Ata>Gta	p.I27V	BMP4_ENST00000417573.1_Missense_Mutation_p.I27V|BMP4_ENST00000558984.1_Missense_Mutation_p.I27V|BMP4_ENST00000559087.1_Missense_Mutation_p.I27V	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	27					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						GTCTCAGGTATCAAACTAGCA	0.587																																						ENST00000245451.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						c.(79-81)Ata>Gta		bone morphogenetic protein 4							57	60	59					14																	54418862		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.chr14:54418862T>C	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.79A>G	14.37:g.54418862T>C	ENSP00000245451:p.Ile27Val		Somatic				BMP4_ENST00000558984.1_Missense_Mutation_p.I27V|BMP4_ENST00000559087.1_Missense_Mutation_p.I27V|BMP4_ENST00000417573.1_Missense_Mutation_p.I27V	p.I27V	NM_001202.3	NP_001193.2	WXS	Illumina GAIIx	Phase_I	P12644	BMP4_HUMAN			3	472	-			27					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.79A>G	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.742906	0.69418	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.72835	-0.69;-0.69	5.2	5.2	0.72013	.	0.341521	0.30911	N	0.008637	T	0.77096	0.4080	L	0.39397	1.21	0.58432	D	0.999998	D	0.71674	0.998	D	0.80764	0.994	T	0.74896	-0.3508	10	0.31617	T	0.26	.	14.4084	0.67099	0.0:0.0:0.0:1.0	.	27	P12644	BMP4_HUMAN	V	27	ENSP00000245451:I27V;ENSP00000394165:I27V	ENSP00000245451:I27V	I	-	1	0	BMP4	53488612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.963000	0.70372	2.194000	0.70268	0.533000	0.62120	ATA		0.587	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		4	72	0	0	0	1	0	4	72					C	54418862	T	C	54418862	3	2	48	1	0	0	0	0	1	0	0	0	1462	1435	50	4	1155	4	BMP4	14	54418862	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	799555	54418862	52930678	3298	7766										
SAMD4A	23034	broad.mit.edu	37	chr14	55168871	55168871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgaagccaggaaacctcgaCgcgaaagtagaatatatgaa	10	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:55168871C>T	ENST00000554335.1	+	3	951	c.288C>T	c.(286-288)gaC>gaT	p.D96D	SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000251091.5_Silent_p.D96D|SAMD4A_ENST00000392067.3_Silent_p.D96D|SAMD4A_ENST00000357634.3_Silent_p.D95D			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	96					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GAAACCTCGACGCGAAAGTAG	0.458																																						ENST00000251091.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						c.(286-288)gaC>gaT		sterile alpha motif domain containing 4A							89	89	89					14																	55168871		2203	4300	6503	SO:0001819	synonymous_variant	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55168871C>T	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"Sterile alpha motif (SAM) domain containing"	23023	protein-coding gene	gene with protein product	"smaug homolog (Drosophila)"	610747	"sterile alpha motif domain containing 4"	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.288C>T	14.37:g.55168871C>T			Somatic				SAMD4A_ENST00000554335.1_Silent_p.D96D|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000357634.3_Silent_p.D95D|SAMD4A_ENST00000392067.3_Silent_p.D96D	p.D96D	NM_001161576.2	NP_001155048.2	WXS	Illumina GAIIx	Phase_I	Q9UPU9	SMAG1_HUMAN			2	593	+			96					A8MPZ5|Q0VA96|Q6PEW4	Silent	SNP	ENST00000554335.1	37	c.288C>T	CCDS32084.2																																																																																				0.458	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		23	45	0	0	0	1	0	23	45					T	55168871	C	T	55168871	2	4	48	1	0	0	0	0	0	0	0	1	13836	535	19	1		1	SAMD4A	14	55168871	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	750009	55168871	52180669	3299	7767										
SAMD4A	23034	broad.mit.edu	37	chr14	55169170	55169170	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtggcagaactctcgggattCtgggatttgcatcaatgcct	12	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:55169170C>A	ENST00000554335.1	+	3	1250	c.587C>A	c.(586-588)tCt>tAt	p.S196Y	SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000251091.5_Missense_Mutation_p.S196Y|SAMD4A_ENST00000392067.3_Missense_Mutation_p.S196Y|SAMD4A_ENST00000357634.3_Missense_Mutation_p.S195Y			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	196					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TCTCGGGATTCTGGGATTTGC	0.522																																						ENST00000251091.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						c.(586-588)tCt>tAt		sterile alpha motif domain containing 4A							79	67	71					14																	55169170		2203	4300	6503	SO:0001583	missense	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55169170C>A	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"Sterile alpha motif (SAM) domain containing"	23023	protein-coding gene	gene with protein product	"smaug homolog (Drosophila)"	610747	"sterile alpha motif domain containing 4"	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.587C>A	14.37:g.55169170C>A	ENSP00000452535:p.Ser196Tyr		Somatic				SAMD4A_ENST00000554335.1_Missense_Mutation_p.S196Y|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000357634.3_Missense_Mutation_p.S195Y|SAMD4A_ENST00000392067.3_Missense_Mutation_p.S196Y	p.S196Y	NM_001161576.2	NP_001155048.2	WXS	Illumina GAIIx	Phase_I	Q9UPU9	SMAG1_HUMAN			2	892	+			196					A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	c.587C>A	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505792	0.85282	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634	.	.	.	6.02	6.02	0.97574	.	0.125811	0.56097	D	0.000032	T	0.74336	0.3703	L	0.47716	1.5	0.40329	D	0.978902	D;D;D	0.76494	0.999;0.993;0.998	D;P;D	0.69479	0.964;0.858;0.921	T	0.68561	-0.5376	9	0.30078	T	0.28	-9.4807	20.5407	0.99260	0.0:1.0:0.0:0.0	.	95;196;196	Q9UPU9-2;Q9UPU9-3;Q9UPU9	.;.;SMAG1_HUMAN	Y	196;196;196;195;195	.	ENSP00000306381:S196Y	S	+	2	0	SAMD4A	54238920	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.103000	0.77014	2.865000	0.98341	0.655000	0.94253	TCT		0.522	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		25	53	1	0	9.57634e-11	1	1.18295e-10	25	53					A	55169170	C	A	55169170	3	1	48	1	0	0	0	0	1	0	0	0	13836	913	32	2	590	2	SAMD4A	14	55169170	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	299	55169170	52180370	3300	7768										
DLGAP5	9787	broad.mit.edu	37	chr14	55625460	55625460	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atacctgagacaacttttttCtgcaaagagaaactaacata	5	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:55625460C>T	ENST00000247191.2	-	14	1870		c.e14-1		DLGAP5_ENST00000395425.2_Splice_Site	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5						cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CAACTTTTTTCTGCAAAGAGA	0.338																																						ENST00000247191.2																			0				biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.e14-1		discs, large (Drosophila) homolog-associated protein 5							63	63	63					14																	55625460		2202	4300	6502	SO:0001630	splice_region_variant	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55625460C>T	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1654-1G>A	14.37:g.55625460C>T			Somatic				DLGAP5_ENST00000395425.2_Splice_Site		NM_014750.4	NP_055565.3	WXS	Illumina GAIIx	Phase_I	Q15398	DLGP5_HUMAN			14	1870	-								A8MTM6|B4DRM8|Q86T11|Q8NG58	Splice_Site	SNP	ENST00000247191.2	37		CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900112	0.33535	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5357	0.87830	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLGAP5	54695213	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	4.338000	0.59316	2.669000	0.90835	0.591000	0.81541	.		0.338	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750	Intron	11	20	0	0	0	1	0	11	20					T	55625460	C	T	55625460	5	4	48	1	0	0	0	0	0	0	1	0	4565	927	32	3	1006	3	DLGAP5	14	55625460	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	456290	55625460	51724080	3301	7769										
DLGAP5	9787	broad.mit.edu	37	chr14	55629731	55629731	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttatgattcatattattattGacttgccacccagattcctc	4	10	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:55629731G>T	ENST00000247191.2	-	13	1827	c.1611C>A	c.(1609-1611)gtC>gtA	p.V537V	DLGAP5_ENST00000395425.2_Silent_p.V537V	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	537					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TATTATTATTGACTTGCCACC	0.294																																						ENST00000247191.2																			0				biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1609-1611)gtC>gtA		discs, large (Drosophila) homolog-associated protein 5							90	91	91					14																	55629731		2203	4292	6495	SO:0001819	synonymous_variant	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55629731G>T	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1611C>A	14.37:g.55629731G>T			Somatic				DLGAP5_ENST00000395425.2_Silent_p.V537V	p.V537V	NM_014750.4	NP_055565.3	WXS	Illumina GAIIx	Phase_I	Q15398	DLGP5_HUMAN			13	1827	-			537					A8MTM6|B4DRM8|Q86T11|Q8NG58	Silent	SNP	ENST00000247191.2	37	c.1611C>A	CCDS9723.1																																																																																				0.294	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		11	17	1	0	5.50884e-06	1	6.10489e-06	11	17					T	55629731	G	T	55629731	2	4	48	1	0	0	0	0	0	0	0	1	4565	1277	45	2		2	DLGAP5	14	55629731	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4271	55629731	51719809	3302	7770										
KTN1	3895	broad.mit.edu	37	chr14	56078943	56078943	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gataaaaagaaagcagaaaaGaaaaagaataaaaagaaaga	8	1	0	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:56078943G>T	ENST00000395314.3	+	2	245	c.177G>T	c.(175-177)aaG>aaT	p.K59N	KTN1_ENST00000395309.3_Missense_Mutation_p.K59N|KTN1_ENST00000413890.2_Missense_Mutation_p.K59N|KTN1_ENST00000395308.1_Missense_Mutation_p.K59N|KTN1_ENST00000416613.1_Missense_Mutation_p.K59N|KTN1_ENST00000438792.2_Missense_Mutation_p.K59N|KTN1_ENST00000395311.1_Missense_Mutation_p.K59N	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	59					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						aagcagaaaagaaaaagaata	0.338			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.(175-177)aaG>aaT		kinectin 1 (kinesin receptor)							33	36	35					14																	56078943		2200	4297	6497	SO:0001583	missense	0				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56078943G>T		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.177G>T	14.37:g.56078943G>T	ENSP00000378725:p.Lys59Asn		Somatic				KTN1_ENST00000413890.2_Missense_Mutation_p.K59N|KTN1_ENST00000395311.1_Missense_Mutation_p.K59N|KTN1_ENST00000395314.3_Missense_Mutation_p.K59N|KTN1_ENST00000395309.3_Missense_Mutation_p.K59N|KTN1_ENST00000438792.2_Missense_Mutation_p.K59N|KTN1_ENST00000395308.1_Missense_Mutation_p.K59N	p.K59N			WXS	Illumina GAIIx	Phase_I	Q86UP2	KTN1_HUMAN			1	249	+			59					B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.177G>T	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152543	0.78001	.	.	ENSG00000126777	ENST00000557267;ENST00000413890;ENST00000395309;ENST00000555498;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	D;D;D;D;D;D;D;D;D	0.99129	-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46;-5.46	5.25	5.25	0.73442	.	0.111321	0.39615	N	0.001312	D	0.98839	0.9608	L	0.53249	1.67	0.54753	D	0.999985	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	0.98951	1.0794	10	0.66056	D	0.02	-11.8272	12.2156	0.54404	0.0782:0.0:0.9218:0.0	.	59;59;59;59	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	N	59	ENSP00000451641:K59N;ENSP00000394992:K59N;ENSP00000378720:K59N;ENSP00000451878:K59N;ENSP00000391964:K59N;ENSP00000378725:K59N;ENSP00000378719:K59N;ENSP00000378722:K59N;ENSP00000388807:K59N	ENSP00000378719:K59N	K	+	3	2	KTN1	55148696	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.855000	0.62925	2.448000	0.82819	0.591000	0.81541	AAG		0.338	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			12	29	1	0	3.07112e-06	1	3.42433e-06	12	29					T	56078943	G	T	56078943	3	4	48	1	0	0	0	0	1	0	0	0	8594	933	33	2	179	2	KTN1	14	56078943	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	449212	56078943	51270597	3303	7771										
KTN1	3895	broad.mit.edu	37	chr14	56103931	56103931	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacagatttacagagtaaatTtgtggccaaagaaaatgaag	9	4	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:56103931T>G	ENST00000395314.3	+	11	1633	c.1565T>G	c.(1564-1566)tTt>tGt	p.F522C	KTN1_ENST00000395309.3_Missense_Mutation_p.F522C|KTN1_ENST00000413890.2_Missense_Mutation_p.F522C|KTN1_ENST00000395308.1_Missense_Mutation_p.F522C|KTN1_ENST00000416613.1_Missense_Mutation_p.F522C|KTN1_ENST00000438792.2_Missense_Mutation_p.F522C|KTN1_ENST00000395311.1_Missense_Mutation_p.F522C	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	522					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						CAGAGTAAATTTGTGGCCAAA	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.(1564-1566)tTt>tGt		kinectin 1 (kinesin receptor)							73	76	75					14																	56103931		2202	4299	6501	SO:0001583	missense	0				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56103931T>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.1565T>G	14.37:g.56103931T>G	ENSP00000378725:p.Phe522Cys		Somatic				KTN1_ENST00000413890.2_Missense_Mutation_p.F522C|KTN1_ENST00000395311.1_Missense_Mutation_p.F522C|KTN1_ENST00000395314.3_Missense_Mutation_p.F522C|KTN1_ENST00000395309.3_Missense_Mutation_p.F522C|KTN1_ENST00000438792.2_Missense_Mutation_p.F522C|KTN1_ENST00000395308.1_Missense_Mutation_p.F522C	p.F522C			WXS	Illumina GAIIx	Phase_I	Q86UP2	KTN1_HUMAN			10	1637	+			522					B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.1565T>G	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.841446	0.32513	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.2	2.63	0.31362	.	0.272196	0.26109	N	0.026297	T	0.32436	0.0829	N	0.22421	0.69	0.27212	N	0.959893	B;B;B;B	0.13594	0.002;0.008;0.001;0.002	B;B;B;B	0.10450	0.004;0.005;0.003;0.004	T	0.28996	-1.0026	10	0.52906	T	0.07	-11.2647	10.861	0.46827	0.2492:0.0:0.0:0.7508	.	522;522;522;522	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	C	522	ENSP00000394992:F522C;ENSP00000378720:F522C;ENSP00000391964:F522C;ENSP00000378725:F522C;ENSP00000378719:F522C;ENSP00000378722:F522C;ENSP00000388807:F522C	ENSP00000378719:F522C	F	+	2	0	KTN1	55173684	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.428000	0.52792	0.902000	0.36520	-0.405000	0.06341	TTT		0.358	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			25	28	0	0	0	1	0	25	28					G	56103931	T	G	56103931	3	3	48	1	0	0	0	0	1	0	0	0	8594	1841	64	4	1603	4	KTN1	14	56103931	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	24988	56103931	51245609	3304	7772										
NAA30	122830	broad.mit.edu	37	chr14	57876118	57876118	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgttttggaaaccgaaataAcaaataagtccgctttgaaa	7	6	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:57876118A>G	ENST00000556492.1	+	5	1127	c.973A>G	c.(973-975)Aca>Gca	p.T325A	NAA30_ENST00000554703.1_Missense_Mutation_p.N48S|NAA30_ENST00000555166.1_Missense_Mutation_p.T67A	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	325	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						AACCGAAATAACAAATAAGTC	0.274																																						ENST00000556492.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						c.(973-975)Aca>Gca		N(alpha)-acetyltransferase 30, NatC catalytic subunit							58	57	57					14																	57876118		2203	4300	6503	SO:0001583	missense	122830					cytoplasm	peptide alpha-N-acetyltransferase activity	g.chr14:57876118A>G	AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"N(alpha)-acetyltransferase subunits"	19844	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 35", "N-acetyltransferase 12", "N-acetyltransferase 12 (GCN5-related, putative)"	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.973A>G	14.37:g.57876118A>G	ENSP00000452521:p.Thr325Ala		Somatic				NAA30_ENST00000554703.1_Missense_Mutation_p.N48S|NAA30_ENST00000555166.1_Missense_Mutation_p.T67A	p.T325A	NM_001011713.2	NP_001011713.2	WXS	Illumina GAIIx	Phase_I	Q147X3	NAA30_HUMAN			5	1127	+			325			N-acetyltransferase.		Q0IIN2	Missense_Mutation	SNP	ENST00000556492.1	37	c.973A>G	CCDS32088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.69|15.69	2.907179|2.907179	0.52333|0.52333	.|.	.|.	ENSG00000139977|ENSG00000139977	ENST00000554703|ENST00000555166;ENST00000556492;ENST00000395257	.|T;T	.|0.20738	.|2.05;2.05	5.04|5.04	5.04|5.04	0.67666|0.67666	.|GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30759|0.30759	0.0775|0.0775	L|L	0.38953|0.38953	1.18|1.18	0.30245|0.30245	N|N	0.794659|0.794659	.|B	.|0.33549	.|0.417	.|P	.|0.48189	.|0.57	T|T	0.32534|0.32534	-0.9903|-0.9903	5|10	.|0.72032	.|D	.|0.01	-6.1238|-6.1238	15.0575|15.0575	0.71925|0.71925	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|325	.|Q147X3	.|NAA30_HUMAN	S|A	48|67;325;288	.|ENSP00000450939:T67A;ENSP00000452521:T325A	.|ENSP00000298406:T325A	N|T	+|+	2|1	0|0	NAA30|NAA30	56945871|56945871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	8.761000|8.761000	0.91691|0.91691	2.011000|2.011000	0.59026|0.59026	0.454000|0.454000	0.30748|0.30748	AAC|ACA		0.274	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		13	27	0	0	0	1	0	13	27					G	57876118	A	G	57876118	3	3	48	1	0	0	0	0	1	0	0	0	10131	43	2	4	987	4	NAA30	14	57876118	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1772187	57876118	49473422	3305	7773										
ACTR10	55860	broad.mit.edu	37	chr14	58697164	58697164	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaagataatgaagagcaatCagttgccactttaatattgg	8	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:58697164C>A	ENST00000254286.4	+	11	916	c.836C>A	c.(835-837)tCa>tAa	p.S279*		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	279					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						GAAGAGCAATCAGTTGCCACT	0.289																																						ENST00000254286.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(835-837)tCa>tAa		actin-related protein 10 homolog (S. cerevisiae)							81	87	85					14																	58697164		2203	4291	6494	SO:0001587	stop_gained	55860					cytoplasm		g.chr14:58697164C>A	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.836C>A	14.37:g.58697164C>A	ENSP00000254286:p.Ser279*		Somatic					p.S279*	NM_018477.2	NP_060947.1	WXS	Illumina GAIIx	Phase_I	Q9NZ32	ARP10_HUMAN			11	916	+			279					Q9H9Y5|Q9NWY2	Nonsense_Mutation	SNP	ENST00000254286.4	37	c.836C>A	CCDS32090.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092343	0.94149	.	.	ENSG00000131966	ENST00000543474;ENST00000254286	.	.	.	5.74	4.84	0.62591	.	0.239518	0.42548	D	0.000699	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-11.0136	15.8759	0.79162	0.0:0.8642:0.1358:0.0	.	.	.	.	X	279	.	ENSP00000254286:S279X	S	+	2	0	ACTR10	57766917	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.559000	0.60796	1.421000	0.47157	0.549000	0.68633	TCA		0.289	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			4	59	1	0	0.150653	1	0.151842	4	59					A	58697164	C	A	58697164	4	1	48	1	0	0	0	0	0	1	0	0	208	838	29	2	878	2	ACTR10	14	58697164	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	821046	58697164	48652376	3306	7774										
ACTR10	55860	broad.mit.edu	37	chr14	58701269	58701269	+	Nonstop_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcattttccactgagaaataGaagtttgattaaaaatcaac	6	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:58701269G>T	ENST00000254286.4	+	13	1334	c.1254G>T	c.(1252-1254)taG>taT	p.*418Y		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	0					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CTGAGAAATAGAAGTTTGATT	0.338																																						ENST00000254286.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1252-1254)taG>taT		actin-related protein 10 homolog (S. cerevisiae)							63	60	61					14																	58701269		2203	4300	6503	SO:0001578	stop_lost	55860					cytoplasm		g.chr14:58701269G>T	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.1254G>T	14.37:g.58701269G>T	ENSP00000254286:p.*418Tyrext*4		Somatic				ACTR10_ENST00000554402.1_3'UTR	p.*418Y	NM_018477.2	NP_060947.1	WXS	Illumina GAIIx	Phase_I	Q9NZ32	ARP10_HUMAN			13	1334	+			0					Q9H9Y5|Q9NWY2	Nonstop_Mutation	SNP	ENST00000254286.4	37	c.1254G>T	CCDS32090.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889920	0.33348	.	.	ENSG00000131966	ENST00000254286	.	.	.	5.58	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4735	0.32999	0.8402:0.0:0.1598:0.0	.	.	.	.	Y	418	.	.	X	+	3	2	ACTR10	57771022	1.000000	0.71417	0.985000	0.45067	0.669000	0.39330	1.963000	0.40452	1.046000	0.40249	-0.290000	0.09829	TAG		0.338	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			5	31	1	0	0.014758	1	0.015099	5	31					T	58701269	G	T	58701269	4	4	48	1	0	0	0	0	0	0	0	0	208	937	33	2	1304	2	ACTR10	14	58701269	Nonstop_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4105	58701269	48648271	3307	7775										
KIAA0586	9786	broad.mit.edu	37	chr14	58965566	58965566	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagctaacagcggcagcagaGaacatcttaatgggacattc	10	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:58965566G>A	ENST00000556134.1	+	28	4285	c.4011G>A	c.(4009-4011)gaG>gaA	p.E1337E	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000423743.3_Silent_p.E1308E|KIAA0586_ENST00000354386.6_Silent_p.E1405E|KIAA0586_ENST00000261244.5_Silent_p.E1276E	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1337					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGCAGCAGAGAACATCTTAA	0.403																																						ENST00000423743.3																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3922-3924)gaG>gaA		KIAA0586							81	75	77					14																	58965566		1903	4136	6039	SO:0001819	synonymous_variant	9786							g.chr14:58965566G>A	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.4011G>A	14.37:g.58965566G>A			Somatic				KIAA0586_ENST00000261244.5_Silent_p.E1276E|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Silent_p.E1405E|KIAA0586_ENST00000556134.1_Silent_p.E1337E	p.E1308E	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	WXS	Illumina GAIIx	Phase_I	E9PGW8	E9PGW8_HUMAN			28	4182	+			1276					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Silent	SNP	ENST00000556134.1	37	c.3924G>A	CCDS58321.1																																																																																				0.403	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		5	33	0	0	0	1	0	5	33					A	58965566	G	A	58965566	2	1	48	1	0	0	0	0	0	0	0	1	8195	933	33	3		3	KIAA0586	14	58965566	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	264297	58965566	48383974	3308	7776										
DAAM1	23002	broad.mit.edu	37	chr14	59792754	59792754	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacacatagtgaagcttaccCgcatttcatgtccatcctgc	7	13	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:59792754C>T	ENST00000395125.1	+	9	1156	c.1133C>T	c.(1132-1134)cCg>cTg	p.P378L	DAAM1_ENST00000360909.3_Missense_Mutation_p.P378L|DAAM1_ENST00000351081.1_Missense_Mutation_p.P378L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	378	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				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)		GAAGCTTACCCGCATTTCATG	0.443																																						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.(1132-1134)cCg>cTg		dishevelled associated activator of morphogenesis 1							163	124	137					14																	59792754		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59792754C>T	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.1133C>T	14.37:g.59792754C>T	ENSP00000378557:p.Pro378Leu		Somatic				DAAM1_ENST00000360909.3_Missense_Mutation_p.P378L|DAAM1_ENST00000351081.1_Missense_Mutation_p.P378L	p.P378L	NM_014992.2	NP_055807.1	WXS	Illumina GAIIx	Phase_I	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	9	1156	+			378			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.1133C>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026492	0.75390	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.30448	1.53;1.53;1.53	5.53	5.53	0.82687	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.046066	0.85682	D	0.000000	T	0.64594	0.2612	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.68678	-0.5345	10	0.59425	D	0.04	.	19.6556	0.95837	0.0:1.0:0.0:0.0	.	378;378	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	L	378	ENSP00000354162:P378L;ENSP00000247170:P378L;ENSP00000378557:P378L	ENSP00000247170:P378L	P	+	2	0	DAAM1	58862507	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	7.609000	0.82925	2.882000	0.98803	0.655000	0.94253	CCG		0.443	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		7	50	0	0	0	1	0	7	50					T	59792754	C	T	59792754	3	4	48	1	0	0	0	0	1	0	0	0	4217	652	23	1	1167	1	DAAM1	14	59792754	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	827188	59792754	47556786	3309	7777										
DAAM1	23002	broad.mit.edu	37	chr14	59835509	59835509	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttctaaattgaaacggaatCgcaaacgtattaccaaccag	6	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:59835509C>T	ENST00000395125.1	+	25	3192	c.3169C>T	c.(3169-3171)Cgc>Tgc	p.R1057C	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.R1047C|DAAM1_ENST00000351081.1_Missense_Mutation_p.R1057C	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1057	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				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)	p.R1057C(1)		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)		GAAACGGAATCGCAAACGTAT	0.368																																						ENST00000395125.1																			1	Substitution - Missense(1)	p.R1057C(1)	skin(1)	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.(3169-3171)Cgc>Tgc		dishevelled associated activator of morphogenesis 1							111	106	108					14																	59835509		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59835509C>T	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.3169C>T	14.37:g.59835509C>T	ENSP00000378557:p.Arg1057Cys		Somatic				DAAM1_ENST00000360909.3_Missense_Mutation_p.R1047C|DAAM1_ENST00000351081.1_Missense_Mutation_p.R1057C|DAAM1_ENST00000553966.1_3'UTR	p.R1057C	NM_014992.2	NP_055807.1	WXS	Illumina GAIIx	Phase_I	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	25	3192	+			1057			DAD.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.3169C>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502139	0.85176	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	D;D;D	0.82255	-1.59;-1.56;-1.56	5.64	5.64	0.86602	Actin-binding FH2/DRF autoregulatory (1);Diaphanous autoregulatory (1);	0.049990	0.85682	D	0.000000	D	0.90497	0.7023	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.90836	0.4720	10	0.87932	D	0	.	19.7154	0.96115	0.0:1.0:0.0:0.0	.	1047;1057	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	C	1047;1057;1057	ENSP00000354162:R1047C;ENSP00000247170:R1057C;ENSP00000378557:R1057C	ENSP00000247170:R1057C	R	+	1	0	DAAM1	58905262	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.770000	0.85390	2.664000	0.90586	0.655000	0.94253	CGC		0.368	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		19	33	0	0	0	1	0	19	33					T	59835509	C	T	59835509	3	4	48	1	0	0	0	0	1	0	0	0	4217	884	31	1	3267	1	DAAM1	14	59835509	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	42755	59835509	47514031	3310	7778										
SIX1	6495	broad.mit.edu	37	chr14	61115666	61115666	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccacagttgctgcagtttgGggtggttgtgaggcgagaac	17	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:61115666G>T	ENST00000247182.6	-	1	514	c.242C>A	c.(241-243)cCc>cAc	p.P81H	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	81					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)		CTGCAGTTTGGGGTGGTTGTG	0.627																																						ENST00000247182.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13						c.(241-243)cCc>cAc		SIX homeobox 1							144	143	143					14																	61115666		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.chr14:61115666G>T	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.242C>A	14.37:g.61115666G>T	ENSP00000247182:p.Pro81His		Somatic				SIX1_ENST00000554986.1_Intron	p.P81H	NM_005982.3	NP_005973.1	WXS	Illumina GAIIx	Phase_I	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	1	514	-			81					Q53Y16|Q96H64	Missense_Mutation	SNP	ENST00000247182.6	37	c.242C>A	CCDS9748.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986212	0.93044	.	.	ENSG00000126778	ENST00000247182	D	0.87491	-2.26	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	M	0.76002	2.32	0.80722	D	1	B	0.23442	0.085	B	0.22601	0.04	D	0.85208	0.1019	10	0.72032	D	0.01	-21.6295	19.6964	0.96028	0.0:0.0:1.0:0.0	.	81	Q15475	SIX1_HUMAN	H	81	ENSP00000247182:P81H	ENSP00000247182:P81H	P	-	2	0	SIX1	60185419	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.782000	0.75073	2.748000	0.94277	0.655000	0.94253	CCC		0.627	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			69	162	1	0	9.68594e-22	1	1.33983e-21	69	162					T	61115666	G	T	61115666	3	4	48	1	0	0	0	0	1	0	0	0	14361	1232	43	5	620	5	SIX1	14	61115666	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1280157	61115666	46233874	3311	7779										
MNAT1	4331	broad.mit.edu	37	chr14	61275130	61275130	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaacaaagatgttattcagaAaaataaattaaagctggtcg	7	4	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:61275130A>G	ENST00000261245.4	+	4	505	c.404A>G	c.(403-405)aAa>aGa	p.K135R	MNAT1_ENST00000539616.2_Missense_Mutation_p.K135R	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	135					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|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)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|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)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		GTTATTCAGAAAAATAAATTA	0.303								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000261245.4																			0				NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11						c.(403-405)aAa>aGa	Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)	MNAT CDK-activating kinase assembly factor 1							46	45	45					14																	61275130		2202	4293	6495	SO:0001583	missense	4331				cell proliferation|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 complex assembly|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	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding	g.chr14:61275130A>G	X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"RING-type (C3HC4) zinc fingers", "General transcription factor IIH complex subunits"	7181	protein-coding gene	gene with protein product	"CDK-activating kinase assembly factor"	602659	"menage a trois 1 (CAK assembly factor)", "menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.404A>G	14.37:g.61275130A>G	ENSP00000261245:p.Lys135Arg		Somatic				MNAT1_ENST00000539616.2_Missense_Mutation_p.K135R	p.K135R	NM_002431.3	NP_002422.1	WXS	Illumina GAIIx	Phase_I	P51948	MAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0174)	4	505	+			135					G3V1U8|Q15817|Q6ICQ7	Missense_Mutation	SNP	ENST00000261245.4	37	c.404A>G	CCDS9750.1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.432598	0.25813	.	.	ENSG00000020426	ENST00000261245;ENST00000539616;ENST00000554002	T;T	0.43294	0.95;0.96	5.12	5.12	0.69794	Cdk-activating kinase assembly factor MAT1, centre (1);	0.089767	0.85682	D	0.000000	T	0.17831	0.0428	N	0.04320	-0.23	0.37463	D	0.915296	B;B	0.14805	0.005;0.011	B;B	0.20184	0.016;0.028	T	0.16571	-1.0398	10	0.02654	T	1	0.0386	9.721	0.40302	0.9218:0.0:0.0782:0.0	.	135;135	G3V1U8;P51948	.;MAT1_HUMAN	R	135;135;30	ENSP00000261245:K135R;ENSP00000446437:K135R	ENSP00000261245:K135R	K	+	2	0	MNAT1	60344883	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.633000	0.61318	2.055000	0.61198	0.533000	0.62120	AAA		0.303	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276956.1	NM_002431		7	8	0	0	0	1	0	7	8					G	61275130	A	G	61275130	3	3	48	1	0	0	0	0	1	0	0	0	9683	14	1	4	418	4	MNAT1	14	61275130	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	159464	61275130	46074410	3312	7780										
TRMT5	57570	broad.mit.edu	37	chr14	61444313	61444313	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaatattatttattttattTactgctgaggtgattcctgg	7	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:61444313T>C	ENST00000261249.6	-	3	1095	c.711A>G	c.(709-711)gtA>gtG	p.V237V	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5											NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TTATTTTATTTACTGCTGAGG	0.313																																						ENST00000261249.6																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11						c.(709-711)gtA>gtG		tRNA methyltransferase 5							50	53	52					14																	61444313		2202	4293	6495	SO:0001819	synonymous_variant	57570					cytoplasm	tRNA (guanine-N1-)-methyltransferase activity	g.chr14:61444313T>C	AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	2.1.1.228		23141	protein-coding gene	gene with protein product	"tRNA (guanine(37)-N1)-methyltransferase"	611023	"KIAA1393", "tRNA methyltransferase 5 homolog (S. cerevisiae)"	KIAA1393		15248782	Standard	XM_005267916		Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.711A>G	14.37:g.61444313T>C			Somatic				RP11-193F5.1_ENST00000553946.1_RNA	p.V237V	NM_020810.2	NP_065861.2	WXS	Illumina GAIIx	Phase_I	Q32P41	TRMT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0873)	3	1095	-			237						Silent	SNP	ENST00000261249.6	37	c.711A>G	CCDS32092.1																																																																																				0.313	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412831.1	NM_02081		14	23	0	0	0	1	0	14	23					C	61444313	T	C	61444313	2	2	48	1	0	0	0	0	0	0	0	1	16582	1741	61	4		4	TRMT5	14	61444313	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	169183	61444313	45905227	3313	7781										
SNAPC1	6617	broad.mit.edu	37	chr14	62249055	62249055	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcaagtcaaagcaactaggAaaaaagagaagaaagaaaga	11	4	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:62249055A>G	ENST00000216294.4	+	8	1020	c.916A>G	c.(916-918)Aaa>Gaa	p.K306E		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	306					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)		AGCAACTAGGAAAAAAGAGAA	0.388																																					NSCLC(27;223 907 37180 39193 46568)	ENST00000216294.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13						c.(916-918)Aaa>Gaa		small nuclear RNA activating complex, polypeptide 1, 43kDa							86	85	86					14																	62249055		2203	4300	6503	SO:0001583	missense	6617				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr14:62249055A>G	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.916A>G	14.37:g.62249055A>G	ENSP00000216294:p.Lys306Glu		Somatic					p.K306E	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)	8	1020	+			306						Missense_Mutation	SNP	ENST00000216294.4	37	c.916A>G	CCDS9755.1	.	.	.	.	.	.	.	.	.	.	A	8.813	0.935756	0.18206	.	.	ENSG00000023608	ENST00000216294	.	.	.	5.95	1.11	0.20524	.	0.843251	0.11319	N	0.576261	T	0.37571	0.1008	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26189	-1.0110	9	0.33141	T	0.24	-3.3609	9.3684	0.38239	0.7349:0.0:0.2651:0.0	.	306	Q16533	SNPC1_HUMAN	E	306	.	ENSP00000216294:K306E	K	+	1	0	SNAPC1	61318808	0.118000	0.22208	0.317000	0.25265	0.597000	0.36814	0.290000	0.18975	0.166000	0.19597	0.533000	0.62120	AAA		0.388	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082		16	26	0	0	0	1	0	16	26					G	62249055	A	G	62249055	3	3	48	1	0	0	0	0	1	0	0	0	14849	247	9	4	946	4	SNAPC1	14	62249055	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	804742	62249055	45100485	3314	7782										
WDR89	112840	broad.mit.edu	37	chr14	64066363	64066363	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggtttttctctggctactcGagcatcccagcatttcacag	8	12	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:64066363G>A	ENST00000394942.2	-	2	386	c.298C>T	c.(298-300)Cga>Tga	p.R100*	CTD-2302E22.2_ENST00000553983.1_lincRNA|WDR89_ENST00000267522.3_Nonsense_Mutation_p.R100*	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	100										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		CTGGCTACTCGAGCATCCCAG	0.383																																						ENST00000394942.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14						c.(298-300)Cga>Tga		WD repeat domain 89							53	51	51					14																	64066363		2203	4300	6503	SO:0001587	stop_gained	112840							g.chr14:64066363G>A	AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"WD repeat domain containing"	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.298C>T	14.37:g.64066363G>A	ENSP00000378399:p.Arg100*		Somatic				WDR89_ENST00000267522.3_Nonsense_Mutation_p.R100*	p.R100*	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	WXS	Illumina GAIIx	Phase_I	Q96FK6	WDR89_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)	2	386	-			100						Nonsense_Mutation	SNP	ENST00000394942.2	37	c.298C>T	CCDS9759.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685289	0.47991	.	.	ENSG00000140006	ENST00000394942;ENST00000267522;ENST00000554717	.	.	.	5.63	4.74	0.60224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0058	0.64463	0.0:0.0:0.7248:0.2752	.	.	.	.	X	100	.	ENSP00000267522:R100X	R	-	1	2	WDR89	63136116	1.000000	0.71417	0.963000	0.40424	0.109000	0.19521	7.039000	0.76544	1.517000	0.48917	-0.169000	0.13324	CGA		0.383	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411879.2	NM_080666		10	24	0	0	0	1	0	10	24					A	64066363	G	A	64066363	4	1	48	1	0	0	0	0	0	1	0	0	17351	1066	37	1	869	1	WDR89	14	64066363	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1817308	64066363	43283177	3315	7783										
WDR89	112840	broad.mit.edu	37	chr14	64066622	64066622	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttcctaaggaacatttaacAatgtgcagattagcaaattg	8	6	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:64066622A>G	ENST00000394942.2	-	2	127	c.39T>C	c.(37-39)atT>atC	p.I13I	CTD-2302E22.2_ENST00000553983.1_lincRNA|WDR89_ENST00000267522.3_Silent_p.I13I	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	13										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		AACATTTAACAATGTGCAGAT	0.343																																						ENST00000394942.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14						c.(37-39)atT>atC		WD repeat domain 89							65	66	65					14																	64066622		2203	4298	6501	SO:0001819	synonymous_variant	112840							g.chr14:64066622A>G	AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"WD repeat domain containing"	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.39T>C	14.37:g.64066622A>G			Somatic				WDR89_ENST00000267522.3_Silent_p.I13I	p.I13I	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	WXS	Illumina GAIIx	Phase_I	Q96FK6	WDR89_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)	2	127	-			13						Silent	SNP	ENST00000394942.2	37	c.39T>C	CCDS9759.1																																																																																				0.343	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411879.2	NM_080666		6	64	0	0	0	1	0	6	64					G	64066622	A	G	64066622	2	3	48	1	0	0	0	0	0	0	0	1	17351	126	5	4		4	WDR89	14	64066622	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	259	64066622	43282918	3316	7784										
SYNE2	23224	broad.mit.edu	37	chr14	64421617	64421617	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caagaattaaaaatccccagAttgctggaaccagaaggtaa	8	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:64421617A>C	ENST00000344113.4	+	8	983	c.771A>C	c.(769-771)agA>agC	p.R257S	SYNE2_ENST00000358025.3_Missense_Mutation_p.R257S|SYNE2_ENST00000554584.1_Missense_Mutation_p.R257S|SYNE2_ENST00000341472.5_Missense_Mutation_p.R257S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000356081.3_Missense_Mutation_p.R257S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	257	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		AAATCCCCAGATTGCTGGAAC	0.353																																						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.(769-771)agA>agC		spectrin repeat containing, nuclear envelope 2							76	67	70					14																	64421617		1815	4079	5894	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.chr14:64421617A>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.771A>C	14.37:g.64421617A>C	ENSP00000341781:p.Arg257Ser		Somatic				SYNE2_ENST00000554584.1_Missense_Mutation_p.R257S|SYNE2_ENST00000341472.5_Missense_Mutation_p.R257S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000356081.3_Missense_Mutation_p.R257S|SYNE2_ENST00000344113.4_Missense_Mutation_p.R257S	p.R257S	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)	8	1001	+			257			Actin-binding.|CH 2.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.771A>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	6.744	0.506017	0.12883	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000341472;ENST00000356081;ENST00000554584;ENST00000261678	D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54	5.19	1.44	0.22558	Calponin homology domain (5);	0.906415	0.09314	N	0.819253	D	0.92896	0.7740	M	0.70595	2.14	0.25694	N	0.985652	P;P;B	0.39717	0.684;0.634;0.328	B;B;B	0.38378	0.272;0.178;0.124	D	0.84327	0.0519	10	0.72032	D	0.01	.	8.8996	0.35485	0.5939:0.0:0.4061:0.0	.	257;257;257	Q8WXH0;Q8WXH0-2;Q8WXH0-8	SYNE2_HUMAN;.;.	S	257	ENSP00000350719:R257S;ENSP00000341781:R257S;ENSP00000344528:R257S;ENSP00000348382:R257S;ENSP00000452570:R257S	ENSP00000261678:R257S	R	+	3	2	SYNE2	63491370	0.047000	0.20315	0.037000	0.18230	0.011000	0.07611	0.560000	0.23500	0.055000	0.16094	0.528000	0.53228	AGA		0.353	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		8	34	0	0	0	1	0	8	34					C	64421617	A	C	64421617	3	2	48	1	0	0	0	0	1	0	0	0	15461	330	12	4	797	4	SYNE2	14	64421617	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	354995	64421617	42927923	3317	7785										
SYNE2	23224	broad.mit.edu	37	chr14	64430710	64430710	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaatgatacctactttaaaAagtataatgtaagtatgatt	6	3	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:64430710A>C	ENST00000344113.4	+	10	1194	c.982A>C	c.(982-984)Aag>Cag	p.K328Q	SYNE2_ENST00000358025.3_Missense_Mutation_p.K328Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.K328Q|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	328					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)		CTACTTTAAAAAGTATAATGT	0.318																																						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.(982-984)Aag>Cag		spectrin repeat containing, nuclear envelope 2							61	58	59					14																	64430710		1800	4063	5863	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.chr14:64430710A>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.982A>C	14.37:g.64430710A>C	ENSP00000341781:p.Lys328Gln		Somatic				SYNE2_ENST00000554584.1_Missense_Mutation_p.K328Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.K328Q	p.K328Q	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)	10	1212	+			328					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.982A>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.564082	0.27915	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.59906	0.58;0.58;0.23	5.04	5.04	0.67666	.	0.226724	0.29791	N	0.011193	T	0.57888	0.2084	L	0.58101	1.795	0.80722	D	1	P;P	0.48503	0.856;0.911	B;P	0.45232	0.282;0.474	T	0.63319	-0.6664	10	0.62326	D	0.03	.	12.5657	0.56308	1.0:0.0:0.0:0.0	.	328;328	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	Q	328	ENSP00000350719:K328Q;ENSP00000341781:K328Q;ENSP00000452570:K328Q	ENSP00000261678:K328Q	K	+	1	0	SYNE2	63500463	1.000000	0.71417	0.643000	0.29450	0.026000	0.11368	6.368000	0.73104	1.909000	0.55274	0.454000	0.30748	AAG		0.318	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		12	14	0	0	0	1	0	12	14					C	64430710	A	C	64430710	3	2	48	1	0	0	0	0	1	0	0	0	15461	15	1	4	1016	4	SYNE2	14	64430710	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	9093	64430710	42918830	3318	7786										
PLEKHG3	26030	broad.mit.edu	37	chr14	65197549	65197549	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgacggaatgcatgcgggAcaagcagcaggccaagttct	13	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:65197549A>G	ENST00000394691.1	+	6	746	c.599A>G	c.(598-600)gAc>gGc	p.D200G	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.D144G			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	200	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGCATGCGGGACAAGCAGCAG	0.647																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(430-432)gAc>gGc		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							38	40	39					14																	65197549		2203	4300	6503	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65197549A>G	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.599A>G	14.37:g.65197549A>G	ENSP00000378183:p.Asp200Gly		Somatic				PLEKHG3_ENST00000394691.1_Missense_Mutation_p.D200G	p.D144G	NM_015549.1	NP_056364.1	WXS	Illumina GAIIx	Phase_I	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	4	739	+			200			DH.		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.431A>G		.	.	.	.	.	.	.	.	.	.	A	19.77	3.889755	0.72524	.	.	ENSG00000126822	ENST00000247226;ENST00000394691	T;T	0.69175	-0.38;-0.38	4.88	4.88	0.63580	Dbl homology (DH) domain (5);	0.328463	0.31542	N	0.007471	T	0.62998	0.2474	L	0.28556	0.865	0.80722	D	1	P;P	0.41947	0.766;0.723	P;P	0.47915	0.561;0.503	T	0.64769	-0.6329	10	0.45353	T	0.12	.	13.7668	0.62999	1.0:0.0:0.0:0.0	.	200;144	A1L390;A1L390-3	PKHG3_HUMAN;.	G	144;200	ENSP00000247226:D144G;ENSP00000378183:D200G	ENSP00000247226:D144G	D	+	2	0	PLEKHG3	64267302	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.442000	0.44873	1.953000	0.56701	0.459000	0.35465	GAC		0.647	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		9	30	0	0	0	1	0	9	30					G	65197549	A	G	65197549	3	3	48	1	0	0	0	0	1	0	0	0	12079	275	10	4	441	4	PLEKHG3	14	65197549	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	766839	65197549	42151991	3319	7787										
PLEKHG3	26030	broad.mit.edu	37	chr14	65208583	65208583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgggctcccggccgacttCgtgggccctgtttgagctcc	15	14	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:65208583C>T	ENST00000394691.1	+	16	2495	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.S288L|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S316L|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.S727L|PLEKHG3_ENST00000492928.1_Intron			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	783							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CGGCCGACTTCGTGGGCCCTG	0.592																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(2179-2181)tCg>tTg		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							59	71	67					14																	65208583		2203	4300	6503	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65208583C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2348C>T	14.37:g.65208583C>T	ENSP00000378183:p.Ser783Leu		Somatic				PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S783L|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S316L|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.S288L	p.S727L	NM_015549.1	NP_056364.1	WXS	Illumina GAIIx	Phase_I	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	14	2488	+			783	YYENAEHHDAGFSV -> WWPHCTPASCSSPT (in Ref. 2; AAH04298).				A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.2180C>T		.	.	.	.	.	.	.	.	.	.	C	19.94	3.919070	0.73098	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.63580	0.41;-0.05;1.32;1.32	5.85	5.85	0.93711	.	0.000000	0.56097	D	0.000040	T	0.68393	0.2996	L	0.52364	1.645	0.25989	N	0.982274	D;P;P;D	0.64830	0.988;0.953;0.878;0.994	P;B;B;P	0.51266	0.654;0.116;0.274;0.664	T	0.65450	-0.6165	10	0.72032	D	0.01	.	18.9268	0.92548	0.0:1.0:0.0:0.0	.	316;288;783;727	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	L	727;783;316;288	ENSP00000247226:S727L;ENSP00000378183:S783L;ENSP00000450945:S316L;ENSP00000450973:S288L	ENSP00000247226:S727L	S	+	2	0	PLEKHG3	64278336	0.004000	0.15560	0.137000	0.22149	0.920000	0.55202	1.038000	0.30254	2.775000	0.95449	0.655000	0.94253	TCG		0.592	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		48	62	0	0	0	1	0	48	62					T	65208583	C	T	65208583	3	4	48	1	0	0	0	0	1	0	0	0	12079	893	31	1	2230	1	PLEKHG3	14	65208583	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	11034	65208583	42140957	3320	7788										
MPP5	64398	broad.mit.edu	37	chr14	67745898	67745898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atagataaccatgacaacatCccatatgaatgggcatgtta	7	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:67745898C>T	ENST00000261681.4	+	3	672	c.11C>T	c.(10-12)tCc>tTc	p.S4F	MPP5_ENST00000556345.1_Missense_Mutation_p.S4F|MPP5_ENST00000555925.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	4					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		ATGACAACATCCCATATGAAT	0.368																																						ENST00000261681.4																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18						c.(10-12)tCc>tTc		membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)							38	37	38					14																	67745898		2203	4300	6503	SO:0001583	missense	64398				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	g.chr14:67745898C>T	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.11C>T	14.37:g.67745898C>T	ENSP00000261681:p.Ser4Phe		Somatic				MPP5_ENST00000555925.1_Intron|MPP5_ENST00000556345.1_Missense_Mutation_p.S4F	p.S4F	NM_022474.3	NP_071919.2	WXS	Illumina GAIIx	Phase_I	Q8N3R9	MPP5_HUMAN		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	3	672	+			4					A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	c.11C>T	CCDS9779.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067234	0.76301	.	.	ENSG00000072415	ENST00000261681;ENST00000556345	T	0.10477	2.87	5.67	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	L	0.46157	1.445	0.80722	D	1	B;D	0.64830	0.001;0.994	B;D	0.74348	0.004;0.983	T	0.00945	-1.1505	10	0.66056	D	0.02	.	14.4864	0.67619	0.0:0.9297:0.0:0.0703	.	4;4	Q8N3R9;G3V2B0	MPP5_HUMAN;.	F	4	ENSP00000261681:S4F	ENSP00000261681:S4F	S	+	2	0	MPP5	66815651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.169000	0.77578	1.409000	0.46915	0.655000	0.94253	TCC		0.368	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		9	23	0	0	0	1	0	9	23					T	67745898	C	T	67745898	3	4	48	1	0	0	0	0	1	0	0	0	9746	855	30	3	13	3	MPP5	14	67745898	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2537315	67745898	39603642	3321	7789										
EIF2S1	1965	broad.mit.edu	37	chr14	67847476	67847476	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccccacaggctgtcaaaattCgagcaggtaaatgatttttt	8	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:67847476C>T	ENST00000256383.4	+	5	1035	c.574C>T	c.(574-576)Cga>Tga	p.R192*	EIF2S1_ENST00000466499.2_Nonsense_Mutation_p.R192*	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	192					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)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		TGTCAAAATTCGAGCAGGTAA	0.318																																						ENST00000256383.4																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(574-576)Cga>Tga		eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa							43	47	46					14																	67847476		2199	4294	6493	SO:0001587	stop_gained	1965					cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity	g.chr14:67847476C>T	J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.574C>T	14.37:g.67847476C>T	ENSP00000256383:p.Arg192*		Somatic				EIF2S1_ENST00000466499.2_Nonsense_Mutation_p.R192*	p.R192*	NM_004094.4	NP_004085.1	WXS	Illumina GAIIx	Phase_I	P05198	IF2A_HUMAN		all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)	5	1035	+			192						Nonsense_Mutation	SNP	ENST00000256383.4	37	c.574C>T	CCDS9781.1	.	.	.	.	.	.	.	.	.	.	C	43	10.065068	0.99329	.	.	ENSG00000134001	ENST00000256383;ENST00000557310;ENST00000466499	.	.	.	5.92	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.461	15.2069	0.73186	0.0:0.9325:0.0:0.0674	.	.	.	.	X	192	.	ENSP00000256383:R192X	R	+	1	2	EIF2S1	66917229	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.798000	0.62510	1.509000	0.48786	0.650000	0.86243	CGA		0.318	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074342.3	NM_004094		12	28	0	0	0	1	0	12	28					T	67847476	C	T	67847476	4	4	48	1	0	0	0	0	0	1	0	0	5011	876	31	1	588	1	EIF2S1	14	67847476	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	101578	67847476	39502064	3322	7790										
RAD51L1	5890	broad.mit.edu	37	chr14	68353863	68353863	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caatctcaaagaaagaaacaAgttcttggcaagagaggcat	9	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:68353863A>C	ENST00000487270.1	+	7	746	c.698A>C	c.(697-699)aAg>aCg	p.K233T	RAD51B_ENST00000471583.1_Missense_Mutation_p.K233T|RAD51B_ENST00000487861.1_Missense_Mutation_p.K233T|RAD51B_ENST00000488612.1_Missense_Mutation_p.K233T|RAD51B_ENST00000390683.3_Missense_Mutation_p.K233T|RAD51B_ENST00000469165.2_3'UTR	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	233					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAAAGAAACAAGTTCTTGGCA	0.363								Direct reversal of damage																														ENST00000487270.1																		HMGA2/RAD51B(11)	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(697-699)aAg>aCg	Direct reversal of damage	RAD51 paralog B							87	91	89					14																	68353863		2203	4300	6503	SO:0001583	missense	5890				blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:68353863A>C	U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"RAD51 (S. cerevisiae)-like 1", "RAD51-like 1 (S. cerevisiae)", "RAD51 homolog B (S. cerevisiae)"	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.698A>C	14.37:g.68353863A>C	ENSP00000419471:p.Lys233Thr		Somatic				RAD51B_ENST00000488612.1_Missense_Mutation_p.K233T|RAD51B_ENST00000487861.1_Missense_Mutation_p.K233T|RAD51B_ENST00000390683.3_Missense_Mutation_p.K233T|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000471583.1_Missense_Mutation_p.K233T	p.K233T	NM_133509.3	NP_598193.2	WXS	Illumina GAIIx	Phase_I	O15315	RA51B_HUMAN			7	746	+			233					O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Missense_Mutation	SNP	ENST00000487270.1	37	c.698A>C	CCDS9789.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.345837	0.41599	.	.	ENSG00000182185	ENST00000487861;ENST00000471583;ENST00000487270;ENST00000488612;ENST00000390683;ENST00000402498;ENST00000342389	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.9	4.76	0.60689	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.066229	0.56097	D	0.000027	T	0.42471	0.1204	N	0.05554	-0.025	0.31739	N	0.635986	P;P;B;B;B;B	0.36282	0.458;0.546;0.191;0.356;0.191;0.01	B;B;B;B;B;B	0.39562	0.303;0.229;0.095;0.161;0.095;0.037	T	0.50372	-0.8836	10	0.27082	T	0.32	-35.9268	10.6241	0.45497	0.9276:0.0:0.0724:0.0	.	233;233;233;233;233;233	C9JYJ0;C9JSP9;O15315-4;O15315;O15315-1;O15315-2	.;.;.;RA51B_HUMAN;.;.	T	233	ENSP00000419881:K233T;ENSP00000418859:K233T;ENSP00000419471:K233T;ENSP00000420061:K233T;ENSP00000375101:K233T	ENSP00000343531:K233T	K	+	2	0	RAD51B	67423616	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	5.131000	0.64751	1.069000	0.40788	-0.263000	0.10527	AAG		0.363	RAD51B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349063.1			18	30	0	0	0	1	0	18	30					C	68353863	A	C	68353863	3	2	48	1	0	0	0	0	1	0	0	0	13004	72	3	4	720	4	RAD51L1	14	68353863	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	506387	68353863	38995677	3323	7791										
DCAF5	8816	broad.mit.edu	37	chr14	69588977	69588977	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccactgttgaaagccaggcaAaaaatgttggaatggtgctc	11	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:69588977A>C	ENST00000341516.5	-	2	462	c.315T>G	c.(313-315)ttT>ttG	p.F105L	DCAF5_ENST00000389997.6_Missense_Mutation_p.F105L|DCAF5_ENST00000554215.1_Missense_Mutation_p.F23L|DCAF5_ENST00000557386.1_Missense_Mutation_p.F105L|DCAF5_ENST00000556847.1_Missense_Mutation_p.F23L	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	105					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						AAGCCAGGCAAAAAATGTTGG	0.488																																						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.(313-315)ttT>ttG		DDB1 and CUL4 associated factor 5							146	126	133					14																	69588977		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69588977A>C	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.315T>G	14.37:g.69588977A>C	ENSP00000341351:p.Phe105Leu		Somatic				DCAF5_ENST00000554215.1_Missense_Mutation_p.F23L|DCAF5_ENST00000556847.1_Missense_Mutation_p.F23L|DCAF5_ENST00000557386.1_Missense_Mutation_p.F105L|DCAF5_ENST00000389997.6_Missense_Mutation_p.F105L	p.F105L	NM_003861.2	NP_003852.1	WXS	Illumina GAIIx	Phase_I	Q96JK2	DCAF5_HUMAN			2	462	-			105					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.315T>G	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337732	0.60963	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386;ENST00000389997;ENST00000554681	T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7	5.73	2.13	0.27403	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	0.45276	0.1334	M	0.78049	2.395	0.58432	D	0.999999	B;D;P;B	0.63046	0.319;0.992;0.472;0.15	B;D;B;B	0.76071	0.128;0.987;0.091;0.063	T	0.27088	-1.0084	10	0.46703	T	0.11	-10.6331	6.8939	0.24245	0.5863:0.0:0.4137:0.0	.	23;105;105;105	G3V3S1;Q8TBB7;G3V4J7;Q96JK2	.;.;.;DCAF5_HUMAN	L	105;23;23;105;105;23	ENSP00000341351:F105L;ENSP00000451551:F23L;ENSP00000452052:F23L;ENSP00000451845:F105L;ENSP00000374647:F105L;ENSP00000451394:F23L	ENSP00000341351:F105L	F	-	3	2	DCAF5	68658730	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.077000	0.30741	0.456000	0.26937	-0.250000	0.11733	TTT		0.488	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		33	57	0	0	0	1	0	33	57					C	69588977	A	C	69588977	3	2	48	1	0	0	0	0	1	0	0	0	4275	11	1	4	2545	4	DCAF5	14	69588977	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1235114	69588977	37760563	3324	7792										
EXD2	55218	broad.mit.edu	37	chr14	69695675	69695675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attggatattttggcagatgGcaccattttgaaagttggag	12	4	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:69695675G>A	ENST00000409018.3	+	3	604	c.476G>A	c.(475-477)gGc>gAc	p.G159D	EXD2_ENST00000312994.5_Missense_Mutation_p.G159D|EXD2_ENST00000409949.1_Missense_Mutation_p.G34D|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409014.1_Missense_Mutation_p.G34D|EXD2_ENST00000449989.1_Missense_Mutation_p.G34D|EXD2_ENST00000409675.1_Missense_Mutation_p.G34D|EXD2_ENST00000409242.1_Missense_Mutation_p.G34D	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	159	3'-5' exonuclease.						3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TTGGCAGATGGCACCATTTTG	0.507																																						ENST00000409014.1																			0				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(100-102)gGc>gAc		exonuclease 3'-5' domain containing 2							157	151	153					14																	69695675		2203	4300	6503	SO:0001583	missense	0				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69695675G>A	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 114", "exonuclease 3'-5' domain-like 2"	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.476G>A	14.37:g.69695675G>A	ENSP00000387331:p.Gly159Asp		Somatic				EXD2_ENST00000409242.1_Missense_Mutation_p.G34D|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409949.1_Missense_Mutation_p.G34D|EXD2_ENST00000409675.1_Missense_Mutation_p.G34D|EXD2_ENST00000409018.3_Missense_Mutation_p.G159D|EXD2_ENST00000312994.5_Missense_Mutation_p.G159D|EXD2_ENST00000449989.1_Missense_Mutation_p.G34D	p.G34D	NM_001193360.1	NP_001180289.1	WXS	Illumina GAIIx	Phase_I	Q9NVH0	EXD2_HUMAN			5	758	+			34			3'-5' exonuclease.		B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	37	c.101G>A	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	G	0.529	-0.858654	0.02610	.	.	ENSG00000081177	ENST00000409018;ENST00000193422;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000413191;ENST00000449989	T;T;T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03	5.95	4.1	0.47936	-5&apos (1);Ribonuclease H-like (1); exonuclease (1);3&apos (1);	0.498963	0.25408	N	0.030886	T	0.33089	0.0851	N	0.04203	-0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.18398	-1.0338	10	0.11794	T	0.64	-6.2943	7.1297	0.25493	0.1988:0.1253:0.6759:0.0	.	159;34	G5E947;Q9NVH0	.;EXD2_HUMAN	D	159;159;34;34;34;34;159;34;34	ENSP00000387331:G159D;ENSP00000386915:G34D;ENSP00000386762:G34D;ENSP00000386632:G34D;ENSP00000386839:G34D;ENSP00000313140:G159D;ENSP00000409089:G34D;ENSP00000392177:G34D	ENSP00000193422:G159D	G	+	2	0	EXD2	68765428	0.998000	0.40836	0.994000	0.49952	0.447000	0.32167	2.364000	0.44187	0.837000	0.34925	0.563000	0.77884	GGC		0.507	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			34	56	0	0	0	1	0	34	56					A	69695675	G	A	69695675	3	1	48	1	0	0	0	0	1	0	0	0	5300	1203	42	3	103	3	EXD2	14	69695675	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	106698	69695675	37653865	3325	7793										
SLC39A9	55334	broad.mit.edu	37	chr14	69866118	69866118	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catctccattagcctgctgtCtctggctatgttggtgggat	11	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:69866118C>T	ENST00000336643.5	+	1	710	c.32C>T	c.(31-33)tCt>tTt	p.S11F	ERH_ENST00000216520.6_5'Flank|ERH_ENST00000555373.1_5'Flank|SLC39A9_ENST00000556605.1_Missense_Mutation_p.S11F|SLC39A9_ENST00000031146.4_Missense_Mutation_p.S11F|SLC39A9_ENST00000555245.1_Intron|ERH_ENST00000557016.1_5'Flank|SLC39A9_ENST00000557046.1_Missense_Mutation_p.S11F	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	11					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		AGCCTGCTGTCTCTGGCTATG	0.438																																						ENST00000031146.4																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(31-33)tCt>tTt		solute carrier family 39, member 9							236	211	219					14																	69866118		2203	4300	6503	SO:0001583	missense	55334				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr14:69866118C>T		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"Solute carriers"	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.32C>T	14.37:g.69866118C>T	ENSP00000336887:p.Ser11Phe		Somatic				SLC39A9_ENST00000557046.1_Missense_Mutation_p.S11F|SLC39A9_ENST00000556605.1_Missense_Mutation_p.S11F|SLC39A9_ENST00000555245.1_Intron|SLC39A9_ENST00000336643.5_Missense_Mutation_p.S11F	p.S11F			WXS	Illumina GAIIx	Phase_I	Q9NUM3	S39A9_HUMAN		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	1	710	+			11					G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	37	c.32C>T	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593641	0.86953	.	.	ENSG00000029364	ENST00000556605;ENST00000336643;ENST00000557046	T;T;T	0.67865	1.27;-0.29;0.87	5.61	5.61	0.85477	.	0.105488	0.64402	D	0.000002	D	0.84727	0.5536	M	0.86651	2.83	0.80722	D	1	D;D;D	0.76494	0.987;0.999;0.999	D;D;D	0.72338	0.937;0.939;0.977	D	0.86888	0.2046	10	0.87932	D	0	-9.414	19.233	0.93847	0.0:1.0:0.0:0.0	.	11;11;11	Q9NUM3-2;G3V5J8;Q9NUM3	.;.;S39A9_HUMAN	F	11	ENSP00000452385:S11F;ENSP00000336887:S11F;ENSP00000451833:S11F	ENSP00000031146:S11F	S	+	2	0	SLC39A9	68935871	1.000000	0.71417	0.998000	0.56505	0.844000	0.47949	7.047000	0.76599	2.657000	0.90304	0.655000	0.94253	TCT		0.438	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		5	15	0	0	0	1	0	5	15					T	69866118	C	T	69866118	3	4	48	1	0	0	0	0	1	0	0	0	14640	913	32	3	34	3	SLC39A9	14	69866118	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	170443	69866118	37483422	3326	7794										
SLC8A3	6547	broad.mit.edu	37	chr14	70633726	70633726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcatcctcctcaaaaatgtCgtcatcaattatgcccacgg	5	13	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:70633726C>T	ENST00000381269.2	-	2	2167	c.1414G>A	c.(1414-1416)Gac>Aac	p.D472N	SLC8A3_ENST00000356921.2_Missense_Mutation_p.D472N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.D472N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.D472N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.D472N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	472	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCAAAAATGTCGTCATCAATT	0.512																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1414-1416)Gac>Aac		solute carrier family 8 (sodium/calcium exchanger), member 3							161	162	162					14																	70633726		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633726C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"Solute carriers"	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1414G>A	14.37:g.70633726C>T	ENSP00000370669:p.Asp472Asn		Somatic				SLC8A3_ENST00000528359.1_Missense_Mutation_p.D472N|SLC8A3_ENST00000534137.1_Missense_Mutation_p.D472N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.D472N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D472N	p.D472N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	WXS	Illumina GAIIx	Phase_I	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2167	-			472			Calx-beta 1.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1414G>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534060	0.64972	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.53	5.53	0.82687	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	L	0.53729	1.69	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.997;0.997	T	0.52026	-0.8630	10	0.39692	T	0.17	.	19.463	0.94927	0.0:1.0:0.0:0.0	.	472;472;472;472	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	N	472	ENSP00000349392:D472N;ENSP00000370669:D472N;ENSP00000350560:D472N;ENSP00000436688:D472N;ENSP00000433531:D472N	ENSP00000349392:D472N	D	-	1	0	SLC8A3	69703479	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	7.811000	0.86092	2.587000	0.87381	0.643000	0.83706	GAC		0.512	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			60	124	0	0	0	1	0	60	124					T	70633726	C	T	70633726	3	4	48	1	0	0	0	0	1	0	0	0	14723	884	31	1	1508	1	SLC8A3	14	70633726	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	767608	70633726	36715814	3327	7795										
ADAM21	8747	broad.mit.edu	37	chr14	70924467	70924467	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtcaagaagctcttagtttCtagacacctcccagtgttca	8	11	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:70924467C>A	ENST00000603540.1	+	2	509	c.251C>A	c.(250-252)tCt>tAt	p.S84Y	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.S84Y	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	84					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTCTTAGTTTCTAGACACCTC	0.512																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(250-252)tCt>tAt		ADAM metallopeptidase domain 21							87	86	86					14																	70924467		2203	4300	6503	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924467C>A	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.251C>A	14.37:g.70924467C>A	ENSP00000474385:p.Ser84Tyr		Somatic				ADAM21_ENST00000267499.3_Missense_Mutation_p.S84Y|RP11-486O13.4_ENST00000556646.1_lincRNA	p.S84Y	NM_003813.3	NP_003804.2	WXS	Illumina GAIIx	Phase_I	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	509	+			84					O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.251C>A	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	C	9.846	1.192266	0.21954	.	.	ENSG00000139985	ENST00000267499	T	0.07114	3.22	3.56	3.56	0.40772	Peptidase M12B, propeptide (1);	0.176773	0.27023	U	0.021311	T	0.28797	0.0714	M	0.90425	3.115	0.09310	N	1	P	0.49090	0.919	P	0.53954	0.738	T	0.19745	-1.0296	10	0.87932	D	0	.	15.6616	0.77190	0.0:1.0:0.0:0.0	.	84	Q9UKJ8	ADA21_HUMAN	Y	84	ENSP00000267499:S84Y	ENSP00000267499:S84Y	S	+	2	0	ADAM21	69994220	0.009000	0.17119	0.354000	0.25760	0.033000	0.12548	2.336000	0.43938	1.981000	0.57761	0.563000	0.77884	TCT		0.512	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			13	122	1	0	1.67942e-08	1	1.98515e-08	13	122					A	70924467	C	A	70924467	3	1	48	1	0	0	0	0	1	0	0	0	243	913	32	2	253	2	ADAM21	14	70924467	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	290741	70924467	36425073	3328	7796										
MAP3K9	4293	broad.mit.edu	37	chr14	71205013	71205013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caagcgtccctggcccccacGtccgtcccttcttctttggg	9	18	2	0	rs572761925		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:71205013G>A	ENST00000554752.2	-	8	1792	c.1793C>T	c.(1792-1794)aCg>aTg	p.T598M	MAP3K9_ENST00000554146.1_Missense_Mutation_p.T335M|MAP3K9_ENST00000381250.4_Missense_Mutation_p.T598M|MAP3K9_ENST00000555993.2_Missense_Mutation_p.T598M|MAP3K9_ENST00000553414.1_Missense_Mutation_p.T340M	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	598					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)		TGGCCCCCACGTCCGTCCCTT	0.557													G|||	1	0.000199681	0	0	5008	,	,		17354	0.001		0	False		,,,				2504	0				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.(1792-1794)aCg>aTg		mitogen-activated protein kinase kinase kinase 9							123	113	116					14																	71205013		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.chr14:71205013G>A	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.1793C>T	14.37:g.71205013G>A	ENSP00000451612:p.Thr598Met		Somatic				MAP3K9_ENST00000381250.4_Missense_Mutation_p.T598M|MAP3K9_ENST00000554146.1_Missense_Mutation_p.T335M|MAP3K9_ENST00000553414.1_Missense_Mutation_p.T340M|MAP3K9_ENST00000555993.2_Missense_Mutation_p.T598M	p.T598M			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)	8	1792	-			598					A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.1793C>T		.	.	.	.	.	.	.	.	.	.	G	22.8	4.341792	0.81911	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.97	5.97	0.96955	.	0.104409	0.64402	D	0.000005	T	0.42131	0.1189	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	0.87578	0.996;0.996;0.998;0.998	T	0.12041	-1.0563	10	0.72032	D	0.01	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	335;598;598;340	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	M	598;598;340;598;335;326	ENSP00000451612:T598M;ENSP00000451038:T340M;ENSP00000370649:T598M;ENSP00000451921:T335M	ENSP00000005198:T598M	T	-	2	0	MAP3K9	70274766	1.000000	0.71417	0.974000	0.42286	0.342000	0.28953	7.996000	0.88334	2.837000	0.97791	0.655000	0.94253	ACG		0.557	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			29	57	0	0	0	1	0	29	57					A	71205013	G	A	71205013	3	1	48	1	0	0	0	0	1	0	0	0	9266	1145	40	1	1587	1	MAP3K9	14	71205013	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	280546	71205013	36144527	3329	7797										
MAP3K9	4293	broad.mit.edu	37	chr14	71216702	71216702	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtagaaggaataggaagggcGagtttgttcatggccactcc	14	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:71216702G>A	ENST00000554752.2	-	4	1097	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L	MAP3K9_ENST00000554146.1_Silent_p.L103L|MAP3K9_ENST00000381250.4_Silent_p.L366L|MAP3K9_ENST00000555993.2_Silent_p.L366L|MAP3K9_ENST00000553414.1_Silent_p.L60L	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	366	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)		TAGGAAGGGCGAGTTTGTTCA	0.507																																					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.(1096-1098)ctC>ctT		mitogen-activated protein kinase kinase kinase 9							172	149	157					14																	71216702		2203	4300	6503	SO:0001819	synonymous_variant	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71216702G>A	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.1098C>T	14.37:g.71216702G>A			Somatic				MAP3K9_ENST00000381250.4_Silent_p.L366L|MAP3K9_ENST00000554146.1_Silent_p.L103L|MAP3K9_ENST00000553414.1_Silent_p.L60L|MAP3K9_ENST00000555993.2_Silent_p.L366L	p.L366L			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)	4	1097	-			366			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	37	c.1098C>T																																																																																					0.507	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			4	93	0	0	0	1	0	4	93					A	71216702	G	A	71216702	2	1	48	1	0	0	0	0	0	0	0	1	9266	1045	37	1		1	MAP3K9	14	71216702	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	11689	71216702	36132838	3330	7798										
PCNX	22990	broad.mit.edu	37	chr14	71478246	71478246	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatccagttctacctcagttCgattttatccacatgatgtg	6	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:71478246C>T	ENST00000304743.2	+	10	3204	c.2758C>T	c.(2758-2760)Cga>Tga	p.R920*	PCNX_ENST00000439984.3_Nonsense_Mutation_p.R814*|PCNX_ENST00000238570.5_Nonsense_Mutation_p.R920*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	920						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)		TACCTCAGTTCGATTTTATCC	0.269																																						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.(2758-2760)Cga>Tga		pecanex homolog (Drosophila)							124	113	117					14																	71478246		2200	4298	6498	SO:0001587	stop_gained	22990					integral to membrane		g.chr14:71478246C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.2758C>T	14.37:g.71478246C>T	ENSP00000304192:p.Arg920*		Somatic				PCNX_ENST00000439984.3_Nonsense_Mutation_p.R814*|PCNX_ENST00000238570.5_Nonsense_Mutation_p.R920*	p.R920*	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)	10	3204	+			920					B2RTR6|O94897|Q96AI7|Q9Y2J9	Nonsense_Mutation	SNP	ENST00000304743.2	37	c.2758C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	44	11.234122	0.99534	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	.	.	.	5.45	5.45	0.79879	.	0.122741	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2783	0.94040	0.0:1.0:0.0:0.0	.	.	.	.	X	920;920;814	.	ENSP00000238570:R920X	R	+	1	2	PCNX	70547999	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.215000	0.77966	2.556000	0.86216	0.650000	0.86243	CGA		0.269	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		4	23	0	0	0	1	0	4	23					T	71478246	C	T	71478246	4	4	48	1	0	0	0	0	0	1	0	0	11600	876	31	1	2796	1	PCNX	14	71478246	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	261544	71478246	35871294	3331	7799										
DPF3	8110	broad.mit.edu	37	chr14	73138003	73138003	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctccgtggtacgtgctgcGgccgctgcctccttctcctt	10	17	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:73138003G>A	ENST00000556509.1	-	8	871				DPF3_ENST00000541685.1_Silent_p.A305A|DPF3_ENST00000546183.1_Silent_p.A315A|DPF3_ENST00000557704.1_5'UTR	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3						chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TACGTGCTGCGGCCGCTGCCT	0.498																																						ENST00000541685.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22						c.(913-915)gcC>gcT		D4, zinc and double PHD fingers, family 3							76	83	80					14																	73138003		2203	4298	6501	SO:0001627	intron_variant	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73138003G>A	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"Zinc fingers, PHD-type"	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.871+2944C>T	14.37:g.73138003G>A			Somatic				DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Intron|DPF3_ENST00000546183.1_Silent_p.A315A	p.A305A	NM_012074.3	NP_036206.3	WXS	Illumina GAIIx	Phase_I	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	9	927	-			134					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Silent	SNP	ENST00000556509.1	37	c.915C>T																																																																																					0.498	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			31	43	0	0	0	1	0	31	43					A	73138003	G	A	73138003	1	1	48	0	1	0	0	0	0	0	0	0	4720	1103	39	1		1	DPF3	14	73138003	Intron	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1659757	73138003	34211537	3332	7800										
PNMA1	9240	broad.mit.edu	37	chr14	74179915	74179915	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaataacattatccaaaataTagtttagcatctctgctggc	6	8	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:74179915T>C	ENST00000316836.3	-	1	1213	c.428A>G	c.(427-429)tAt>tGt	p.Y143C		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	143					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		atccaaaatatagtttagcat	0.532																																						ENST00000316836.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13						c.(427-429)tAt>tGt		paraneoplastic Ma antigen 1							63	69	67					14																	74179915		2203	4300	6503	SO:0001583	missense	9240				apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding	g.chr14:74179915T>C	AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"Paraneoplastic Ma antigens"	9158	protein-coding gene	gene with protein product		604010	"paraneoplastic antigen MA1"			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.428A>G	14.37:g.74179915T>C	ENSP00000318914:p.Tyr143Cys		Somatic					p.Y143C	NM_006029.4	NP_006020.4	WXS	Illumina GAIIx	Phase_I	Q8ND90	PNMA1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)	1	1213	-			143					A8K4L5|O95144|Q8NG07	Missense_Mutation	SNP	ENST00000316836.3	37	c.428A>G	CCDS9818.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.099469	0.56183	.	.	ENSG00000176903	ENST00000316836	T	0.09445	2.98	3.9	3.9	0.45041	.	0.341831	0.21557	N	0.072630	T	0.11110	0.0271	N	0.08118	0	0.38970	D	0.95872	P	0.52577	0.954	P	0.57244	0.816	T	0.19451	-1.0305	10	0.54805	T	0.06	-6.3045	9.4132	0.38505	0.0:0.0:0.0:1.0	.	143	Q8ND90	PNMA1_HUMAN	C	143	ENSP00000318914:Y143C	ENSP00000318914:Y143C	Y	-	2	0	PNMA1	73249668	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.059000	0.49947	2.002000	0.58637	0.533000	0.62120	TAT		0.532	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1	NM_006029		54	72	0	0	0	1	0	54	72					C	74179915	T	C	74179915	3	2	48	1	0	0	0	0	1	0	0	0	12162	1406	49	4	637	4	PNMA1	14	74179915	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1041912	74179915	33169625	3333	7801										
ZNF410	57862	broad.mit.edu	37	chr14	74363124	74363124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggagaggagacgagagctcAgactgtacagaaatccccgg	14	10	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:74363124A>G	ENST00000555044.1	+	4	469	c.275A>G	c.(274-276)cAg>cGg	p.Q92R	RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000324593.6_Missense_Mutation_p.Q92R|ZNF410_ENST00000540593.1_Intron|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000442160.3_Missense_Mutation_p.Q109R|ZNF410_ENST00000334521.4_Missense_Mutation_p.Q39R|ZNF410_ENST00000556797.1_Missense_Mutation_p.Q39R	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	92					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)		ACGAGAGCTCAGACTGTACAG	0.463																																						ENST00000555044.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(274-276)cAg>cGg		zinc finger protein 410							134	127	129					14																	74363124		2203	4300	6503	SO:0001583	missense	57862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:74363124A>G	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.275A>G	14.37:g.74363124A>G	ENSP00000451763:p.Gln92Arg		Somatic				ZNF410_ENST00000540593.1_Intron|ZNF410_ENST00000324593.6_Missense_Mutation_p.Q92R|ZNF410_ENST00000442160.3_Missense_Mutation_p.Q109R|ZNF410_ENST00000556797.1_Missense_Mutation_p.Q39R|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000334521.4_Missense_Mutation_p.Q39R	p.Q92R	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)	4	469	+			92					B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	ENST00000555044.1	37	c.275A>G	CCDS9821.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.036866	0.35893	.	.	ENSG00000119725	ENST00000555730;ENST00000324593;ENST00000557495;ENST00000556659;ENST00000557363;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000556797	T;T;T;T	0.08370	3.17;3.13;3.17;3.1	5.3	5.3	0.74995	.	0.173667	0.27811	N	0.017759	T	0.05318	0.0141	N	0.14661	0.345	0.37629	D	0.921594	P;B;B	0.35328	0.495;0.135;0.083	B;B;B	0.30401	0.115;0.04;0.018	T	0.51779	-0.8662	9	.	.	.	.	13.96	0.64172	1.0:0.0:0.0:0.0	.	109;92;92	B4DDV5;Q86VK4-3;Q86VK4	.;.;ZN410_HUMAN	R	39;92;99;92;39;109;92;39;39	ENSP00000323293:Q92R;ENSP00000407130:Q109R;ENSP00000451763:Q92R;ENSP00000334170:Q39R	.	Q	+	2	0	ZNF410	73432877	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	4.062000	0.57492	2.218000	0.71995	0.482000	0.46254	CAG		0.463	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188		33	58	0	0	0	1	0	33	58					G	74363124	A	G	74363124	3	3	48	1	0	0	0	0	1	0	0	0	17905	188	7	4	285	4	ZNF410	14	74363124	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	183209	74363124	32986416	3334	7802										
ALDH6A1	4329	broad.mit.edu	37	chr14	74539002	74539002	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaaaagcacgtttgcaggaAgcaatggctgcatccatttc	11	9	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:74539002A>C	ENST00000553458.1	-	4	350	c.252T>G	c.(250-252)gcT>gcG	p.A84A	ALDH6A1_ENST00000350259.4_Silent_p.A84A|ALDH6A1_ENST00000556852.1_5'UTR|CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	84					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)		GTTTGCAGGAAGCAATGGCTG	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.(250-252)gcT>gcG		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						79	70	73					14																	74539002		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.chr14:74539002A>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.252T>G	14.37:g.74539002A>C			Somatic				AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Silent_p.A84A|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000556852.1_5'UTR	p.A84A	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)	4	350	-			84					B2R609|B4DFS8|J3KNU8|Q9UKM8	Silent	SNP	ENST00000553458.1	37	c.252T>G	CCDS9826.1																																																																																				0.483	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			26	44	0	0	0	1	0	26	44					C	74539002	A	C	74539002	2	2	48	1	0	0	0	0	0	0	0	1	503	59	3	4		4	ALDH6A1	14	74539002	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	175878	74539002	32810538	3335	7803										
C14orf115	55237	broad.mit.edu	37	chr14	74823942	74823942	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accagcttgccccccgccacGctggaggccatcttcgatgc	10	18	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:74823942G>A	ENST00000256362.4	+	2	697	c.456G>A	c.(454-456)acG>acA	p.T152T		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	152					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						CCCCCGCCACGCTGGAGGCCA	0.612																																						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.(454-456)acG>acA		vertebrae development associated							74	68	70					14																	74823942		2203	4300	6503	SO:0001819	synonymous_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74823942G>A	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.456G>A	14.37:g.74823942G>A			Somatic					p.T152T	NM_018228.2	NP_060698.2	WXS	Illumina GAIIx	Phase_I	Q9H8Y1	VRTN_HUMAN			2	697	+			152					Q9NVC7	Silent	SNP	ENST00000256362.4	37	c.456G>A	CCDS9830.1																																																																																				0.612	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		19	55	0	0	0	1	0	19	55					A	74823942	G	A	74823942	2	1	48	1	0	0	0	0	0	0	0	1	1742	1074	38	1		1	C14orf115	14	74823942	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	284940	74823942	32525598	3336	7804										
MLH3	27030	broad.mit.edu	37	chr14	75506691	75506691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttaactgctaagctctcagCctggccactgcttacatcaa	6	13	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:75506691C>T	ENST00000556740.1	-	4	3528	c.3493G>A	c.(3493-3495)Gct>Act	p.A1165T	MLH3_ENST00000544985.1_Intron|MLH3_ENST00000556257.1_Intron|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000355774.2_Missense_Mutation_p.A1165T|MLH3_ENST00000238662.7_Missense_Mutation_p.A1165T|MLH3_ENST00000380968.2_Missense_Mutation_p.A111T			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1165					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)		AAGCTCTCAGCCTGGCCACTG	0.338								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.(3493-3495)Gct>Act	Mismatch excision repair (MMR)	mutL homolog 3							72	73	72					14																	75506691		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.chr14:75506691C>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.3493G>A	14.37:g.75506691C>T	ENSP00000452316:p.Ala1165Thr		Somatic				MLH3_ENST00000238662.7_Missense_Mutation_p.A1165T|MLH3_ENST00000544985.1_Intron|MLH3_ENST00000380968.2_Missense_Mutation_p.A111T|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.A1165T|MLH3_ENST00000556257.1_Intron	p.A1165T	NM_001040108.1	NP_001035197.1	WXS	Illumina GAIIx	Phase_I	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	5	3708	-			1165					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.3493G>A	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	c	26.4	4.735409	0.89482	.	.	ENSG00000119684	ENST00000355774;ENST00000380968;ENST00000238662;ENST00000556740	D;T;D;D	0.83250	-1.5;0.62;-1.7;-1.5	5.81	5.81	0.92471	.	0.103551	0.64402	D	0.000003	D	0.85504	0.5712	L	0.39020	1.185	0.80722	D	1	D;D	0.61697	0.99;0.987	D;P	0.68192	0.956;0.831	T	0.83113	-0.0122	10	0.31617	T	0.26	-14.9512	13.298	0.60309	0.0:0.928:0.0:0.072	.	1165;1165	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	T	1165;111;1165;1165	ENSP00000348020:A1165T;ENSP00000370355:A111T;ENSP00000238662:A1165T;ENSP00000452316:A1165T	ENSP00000238662:A1165T	A	-	1	0	MLH3	74576444	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.701000	0.61810	2.738000	0.93877	0.655000	0.94253	GCT		0.338	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		20	24	0	0	0	1	0	20	24					T	75506691	C	T	75506691	3	4	48	1	0	0	0	0	1	0	0	0	9627	739	26	3	904	3	MLH3	14	75506691	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	682749	75506691	31842849	3337	7805										
MLH3	27030	broad.mit.edu	37	chr14	75515305	75515305	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgataattccacaaataattTttcttgctttaaaaacattt	2	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:75515305T>G	ENST00000556740.1	-	1	1089	c.1054A>C	c.(1054-1056)Aaa>Caa	p.K352Q	MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.K352Q|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.K352Q|MLH3_ENST00000238662.7_Missense_Mutation_p.K352Q|MLH3_ENST00000380968.2_5'UTR			Q9UHC1	MLH3_HUMAN	mutL homolog 3	352					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)		ACAAATAATTTTTCTTGCTTT	0.363								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.(1054-1056)Aaa>Caa	Mismatch excision repair (MMR)	mutL homolog 3							51	53	52					14																	75515305		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.chr14:75515305T>G	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.1054A>C	14.37:g.75515305T>G	ENSP00000452316:p.Lys352Gln		Somatic				MLH3_ENST00000238662.7_Missense_Mutation_p.K352Q|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.K352Q|MLH3_ENST00000556257.1_Missense_Mutation_p.K352Q	p.K352Q	NM_001040108.1	NP_001035197.1	WXS	Illumina GAIIx	Phase_I	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1269	-			352					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.1054A>C	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.430541	0.25726	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.81078	-1.4;-1.4;-1.45;-1.4	5.75	4.65	0.58169	.	0.266144	0.42548	D	0.000692	T	0.71273	0.3320	L	0.45581	1.43	0.80722	D	1	B;B	0.33883	0.225;0.43	B;B	0.26094	0.066;0.052	T	0.70706	-0.4798	10	0.33940	T	0.23	-9.1292	11.883	0.52586	0.0:0.0:0.2347:0.7653	.	352;352	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	Q	352	ENSP00000348020:K352Q;ENSP00000238662:K352Q;ENSP00000451540:K352Q;ENSP00000452316:K352Q	ENSP00000238662:K352Q	K	-	1	0	MLH3	74585058	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.383000	0.59600	2.194000	0.70268	0.533000	0.62120	AAA		0.363	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		18	19	0	0	0	1	0	18	19					G	75515305	T	G	75515305	3	3	48	1	0	0	0	0	1	0	0	0	9627	1850	64	4	3355	4	MLH3	14	75515305	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	8614	75515305	31834235	3338	7806										
FAM164C	79696	broad.mit.edu	37	chr14	75537671	75537671	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatcccctttacaaagaaacGagttggagtggaccgggcgt	12	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:75537671G>A	ENST00000524913.1	+	2	884	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	ACYP1_ENST00000555463.1_5'Flank|ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.R132Q|ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.R132Q	NM_024643.2	NP_078919.2	Q53FD0	ZC21C_HUMAN	zinc finger, C2HC-type containing 1C	132							metal ion binding (GO:0046872)										ACAAAGAAACGAGTTGGAGTG	0.512																																						ENST00000524913.1																			0											c.(394-396)cGa>cAa		zinc finger, C2HC-type containing 1C							99	97	97					14																	75537671		1862	4097	5959	SO:0001583	missense	79696							g.chr14:75537671G>A	AK026746	CCDS41972.1, CCDS45138.1	14q24.3	2013-01-10	2012-02-03	2012-02-03	ENSG00000119703	ENSG00000119703		"Zinc fingers, C2HC-type containing"	20354	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 140", "family with sequence similarity 164, member C"	C14orf140, FAM164C			Standard	XM_005268062		Approved		uc001xrh.3	Q53FD0	OTTHUMG00000167439	ENST00000524913.1:c.395G>A	14.37:g.75537671G>A	ENSP00000435550:p.Arg132Gln		Somatic				ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.R132Q|ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.R132Q	p.R132Q	NM_024643.2	NP_078919.2	WXS	Illumina GAIIx	Phase_I	Q53FD0	F164C_HUMAN			2	884	+			132					E9PJQ0|Q9BTA8|Q9H5S9	Missense_Mutation	SNP	ENST00000524913.1	37	c.395G>A	CCDS41972.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265992	0.59540	.	.	ENSG00000119703	ENST00000524913;ENST00000238686;ENST00000554763;ENST00000439583;ENST00000526130	T	0.52754	0.65	4.53	3.63	0.41609	.	0.183052	0.32372	N	0.006183	T	0.41328	0.1154	M	0.70595	2.14	0.26960	N	0.965835	D;P	0.53151	0.958;0.93	B;B	0.37144	0.242;0.191	T	0.45396	-0.9264	9	.	.	.	-1.5626	9.7568	0.40508	0.1814:0.0:0.8186:0.0	.	132;132	Q53FD0;E9PJQ0	F164C_HUMAN;.	Q	132	ENSP00000435550:R132Q	.	R	+	2	0	FAM164C	74607424	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	1.562000	0.36353	1.131000	0.42111	0.557000	0.71058	CGA		0.512	ZC2HC1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394616.4	NM_001042430		61	100	0	0	0	1	0	61	100					A	75537671	G	A	75537671	3	1	48	1	0	0	0	0	1	0	0	0	5484	1058	37	1	397	1	FAM164C	14	75537671	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	22366	75537671	31811869	3339	7807										
KIAA1737	85457	broad.mit.edu	37	chr14	77580149	77580149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgaggactcagctctgcagGgtgtgccctctctggtggca	14	13	3	0	rs373673890		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77580149G>A	ENST00000361786.2	+	4	1005	c.688G>A	c.(688-690)Ggt>Agt	p.G230S	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		230					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AGCTCTGCAGGGTGTGCCCTC	0.617																																						ENST00000361786.2																			0				endometrium(2)|lung(4)|prostate(3)	9						c.(688-690)Ggt>Agt		KIAA1737		G	SER/GLY	0,4406		0,0,2203	58	49	52		688	4.3	1	14		52	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA1737	NM_033426.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	230/400	77580149	1,13005	2203	4300	6503	SO:0001583	missense	85457							g.chr14:77580149G>A																												ENST00000361786.2:c.688G>A	14.37:g.77580149G>A	ENSP00000355319:p.Gly230Ser		Somatic				RP11-463C8.4_ENST00000557752.1_Intron	p.G230S	NM_033426.2	NP_219494.2	WXS	Illumina GAIIx	Phase_I	Q9C0C6	K1737_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)	4	1005	+			230					B2RCI1|Q8N389|Q8NDZ1	Missense_Mutation	SNP	ENST00000361786.2	37	c.688G>A	CCDS9855.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054414	0.36277	0.0	1.16E-4	ENSG00000198894	ENST00000361786	T	0.28454	1.61	5.45	4.32	0.51571	.	0.129529	0.50627	D	0.000105	T	0.12817	0.0311	N	0.05124	-0.11	0.80722	D	1	B;B	0.21753	0.06;0.06	B;B	0.20184	0.028;0.028	T	0.13072	-1.0523	10	0.27785	T	0.31	-25.9272	5.4778	0.16706	0.1919:0.0:0.8081:0.0	.	230;132	Q9C0C6;B3KU75	K1737_HUMAN;.	S	230	ENSP00000355319:G230S	ENSP00000355319:G230S	G	+	1	0	KIAA1737	76649902	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.347000	0.52200	2.724000	0.93272	0.455000	0.32223	GGT		0.617	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1			23	47	0	0	0	1	0	23	47					A	77580149	G	A	77580149	3	1	48	1	0	0	0	0	1	0	0	0	8264	1232	43	3	698	3	KIAA1737	14	77580149	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2042478	77580149	29769391	3340	7808										
ZDHHC22	283576	broad.mit.edu	37	chr14	77605688	77605688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaggcaggccagggaggtgtAgaggcagaacaggacgaagt	19	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77605688A>G	ENST00000319374.4	-	2	596	c.394T>C	c.(394-396)Tac>Cac	p.Y132H	AC007375.1_ENST00000600936.1_5'Flank|RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	132					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AGGGAGGTGTAGAGGCAGAAC	0.607																																						ENST00000319374.4																			0				kidney(1)|lung(1)|urinary_tract(1)	3						c.(394-396)Tac>Cac		zinc finger, DHHC-type containing 22							35	42	39					14																	77605688		2184	4265	6449	SO:0001583	missense	283576					integral to membrane	acyltransferase activity|zinc ion binding	g.chr14:77605688A>G	AK095612	CCDS45140.1	14q24.3	2008-08-06	2004-03-05	2004-03-10	ENSG00000177108	ENSG00000177108		"Zinc fingers, DHHC-type"	20106	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 59"	C14orf59			Standard	NM_174976		Approved		uc010asp.3	Q8N966		ENST00000319374.4:c.394T>C	14.37:g.77605688A>G	ENSP00000318222:p.Tyr132His		Somatic				RP11-463C8.4_ENST00000557752.1_Intron	p.Y132H	NM_174976.2	NP_777636.2	WXS	Illumina GAIIx	Phase_I	Q8N966	ZDH22_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)	2	596	-			132					A6NH02|B7Z2L5|Q149P4	Missense_Mutation	SNP	ENST00000319374.4	37	c.394T>C	CCDS45140.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.042634	0.35989	.	.	ENSG00000177108	ENST00000319374	T	0.26957	1.7	5.39	5.39	0.77823	Zinc finger, DHHC-type, palmitoyltransferase (1);Sterol-sensing domain (1);	0.134270	0.52532	D	0.000080	T	0.28830	0.0715	M	0.75264	2.295	0.49051	D	0.999744	B	0.19073	0.033	B	0.22152	0.038	T	0.12116	-1.0560	10	0.40728	T	0.16	.	8.01	0.30347	0.8472:0.0:0.1528:0.0	.	132	Q8N966	ZDH22_HUMAN	H	132	ENSP00000318222:Y132H	ENSP00000318222:Y132H	Y	-	1	0	ZDHHC22	76675441	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.044000	0.64214	2.035000	0.60131	0.459000	0.35465	TAC		0.607	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414289.1	NM_174976		8	5	0	0	0	1	0	8	5					G	77605688	A	G	77605688	3	3	48	1	0	0	0	0	1	0	0	0	17628	420	15	4	405	4	ZDHHC22	14	77605688	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	25539	77605688	29743852	3341	7809										
NGB	58157	broad.mit.edu	37	chr14	77737225	77737225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggtgccgtgctccagcgggCtgcggctcactgcccgccag	15	17	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77737225C>T	ENST00000298352.4	-	1	430	c.56G>A	c.(55-57)aGc>aAc	p.S19N		NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	19	Globin.				apoptotic process (GO:0006915)|oxygen transport (GO:0015671)	mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CTCCAGCGGGCTGCGGCTCAC	0.746																																						ENST00000298352.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(55-57)aGc>aAc		neuroglobin							7	7	7					14																	77737225		2120	4165	6285	SO:0001583	missense	58157					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr14:77737225C>T	AJ245946	CCDS9856.1	14q24.3	2014-06-13			ENSG00000165553	ENSG00000165553			14077	protein-coding gene	gene with protein product		605304				11029004, 17210637	Standard	NM_021257		Approved		uc001xtg.1	Q9NPG2	OTTHUMG00000171558	ENST00000298352.4:c.56G>A	14.37:g.77737225C>T	ENSP00000298352:p.Ser19Asn		Somatic					p.S19N	NM_021257.3	NP_067080.1	WXS	Illumina GAIIx	Phase_I	Q9NPG2	NGB_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)	1	430	-			19			Globin.			Missense_Mutation	SNP	ENST00000298352.4	37	c.56G>A	CCDS9856.1	.	.	.	.	.	.	.	.	.	.	C	9.997	1.232310	0.22626	.	.	ENSG00000165553	ENST00000298352	D	0.91945	-2.94	4.43	2.12	0.27331	Globin-like (1);Globin, structural domain (1);	0.144285	0.64402	D	0.000009	T	0.70378	0.3217	N	0.01493	-0.835	0.31529	N	0.661419	B	0.02656	0.0	B	0.01281	0.0	T	0.65726	-0.6098	10	0.02654	T	1	-12.8522	4.585	0.12279	0.0:0.5269:0.0:0.4731	.	19	Q9NPG2	NGB_HUMAN	N	19	ENSP00000298352:S19N	ENSP00000298352:S19N	S	-	2	0	NGB	76806978	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.335000	0.33839	0.971000	0.38288	0.561000	0.74099	AGC		0.746	NGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414194.1	NM_021257		5	9	0	0	0	1	0	5	9					T	77737225	C	T	77737225	3	4	48	1	0	0	0	0	1	0	0	0	10401	797	28	3	415	3	NGB	14	77737225	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	131537	77737225	29612315	3342	7810										
C14orf174	161394	broad.mit.edu	37	chr14	77844235	77844235	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagtcagctatggaaacagaTccagatccagtgccaccaac	9	12	1	2	rs367989546		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77844235T>C	ENST00000216471.4	+	1	760	c.474T>C	c.(472-474)gaT>gaC	p.D158D	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	158										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGAAACAGATCCAGATCCAG	0.488																																						ENST00000216471.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(472-474)gaT>gaC		sterile alpha motif domain containing 15							98	106	103					14																	77844235		2203	4300	6503	SO:0001819	synonymous_variant	161394							g.chr14:77844235T>C	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.474T>C	14.37:g.77844235T>C			Somatic				SAMD15_ENST00000533095.2_Intron	p.D158D	NM_001010860.1	NP_001010860.1	WXS	Illumina GAIIx	Phase_I	Q9P1V8	SAM15_HUMAN			1	760	+			158					Q2M3P3	Silent	SNP	ENST00000216471.4	37	c.474T>C	CCDS32126.1																																																																																				0.488	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		80	125	0	0	0	1	0	80	125					C	77844235	T	C	77844235	2	2	48	1	0	0	0	0	0	0	0	1	1761	1432	50	4		4	C14orf174	14	77844235	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	107010	77844235	29505305	3343	7811										
AHSA1	10598	broad.mit.edu	37	chr14	77935522	77935522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctgaggaagagcggacgcGacagggctggcagcggtact	17	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77935522G>A	ENST00000216479.3	+	9	1107	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	AHSA1_ENST00000555457.1_3'UTR|SNORA46_ENST00000391069.1_RNA	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	316					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GAGCGGACGCGACAGGGCTGG	0.577																																						ENST00000216479.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8						c.(946-948)cGa>cAa		AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)							169	158	162					14																	77935522		2203	4300	6503	SO:0001583	missense	10598				protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding	g.chr14:77935522G>A	AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"chromosome 14 open reading frame 3"	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.947G>A	14.37:g.77935522G>A	ENSP00000216479:p.Arg316Gln		Somatic				AHSA1_ENST00000555457.1_3'UTR	p.R316Q	NM_012111.2	NP_036243.1	WXS	Illumina GAIIx	Phase_I	O95433	AHSA1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	9	1107	+			316					B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP	ENST00000216479.3	37	c.947G>A	CCDS9863.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740432	0.49045	.	.	ENSG00000100591	ENST00000555133;ENST00000216479;ENST00000557476	T	0.46063	0.88	5.46	4.56	0.56223	START-like domain (1);	0.174786	0.52532	D	0.000075	T	0.23289	0.0563	L	0.34521	1.04	0.21256	N	0.999749	P	0.45594	0.862	B	0.34180	0.177	T	0.12066	-1.0562	10	0.22109	T	0.4	-4.2088	6.1824	0.20478	0.1473:0.0:0.6888:0.1638	.	316	O95433	AHSA1_HUMAN	Q	181;316;98	ENSP00000451474:R98Q	ENSP00000216479:R316Q	R	+	2	0	AHSA1	77005275	0.992000	0.36948	0.995000	0.50966	0.775000	0.43874	1.867000	0.39499	1.517000	0.48917	0.591000	0.81541	CGA		0.577	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111		10	191	0	0	0	1	0	10	191					A	77935522	G	A	77935522	3	1	48	1	0	0	0	0	1	0	0	0	418	1058	37	1	981	1	AHSA1	14	77935522	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	91287	77935522	29414018	3344	7812										
ADCK1	57143	broad.mit.edu	37	chr14	78398005	78398005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccctgggcacccgcgccagcGccagctcctttctcaacatg	9	19	1	0	rs141847250	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:78398005G>A	ENST00000238561.5	+	10	1450	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.A383T	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	458	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CCGCGCCAGCGCCAGCTCCTT	0.647													G|||	3	0.000599042	0	0	5008	,	,		16936	0		0.002	False		,,,				2504	0.001					ENST00000238561.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25						c.(1351-1353)Gcc>Acc		aarF domain containing kinase 1		G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	81	70	74		1147,1351	4	0.9	14	dbSNP_134	74	24,8576	17.9+/-57.8	1,22,4277	yes	missense,missense	ADCK1	NM_001142545.1,NM_020421.3	58,58	1,23,6479	AA,AG,GG		0.2791,0.0227,0.1922	possibly-damaging,possibly-damaging	383/456,451/524	78398005	25,12981	2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78398005G>A	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1351G>A	14.37:g.78398005G>A	ENSP00000238561:p.Ala451Thr		Somatic				ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.A383T	p.A451T	NM_020421.3	NP_065154.2	WXS	Illumina GAIIx	Phase_I	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	10	1450	+			458			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.1351G>A	CCDS9869.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.42	1.933280	0.34096	2.27E-4	0.002791	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.67171	-0.25;1.15	4.93	4.03	0.46877	.	0.062054	0.64402	D	0.000004	T	0.50650	0.1628	L	0.46885	1.475	0.49389	D	0.999784	B;P;B	0.40000	0.226;0.698;0.334	B;B;B	0.26693	0.017;0.072;0.038	T	0.48822	-0.9001	10	0.16420	T	0.52	-23.2983	12.736	0.57225	0.0:0.0:0.7007:0.2993	.	458;383;451	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	T	451;383	ENSP00000238561:A451T;ENSP00000339663:A383T	ENSP00000238561:A451T	A	+	1	0	ADCK1	77467758	1.000000	0.71417	0.894000	0.35097	0.992000	0.81027	4.139000	0.58024	1.183000	0.42943	0.549000	0.68633	GCC		0.647	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		14	32	0	0	0	1	0	14	32					A	78398005	G	A	78398005	3	1	48	1	0	0	0	0	1	0	0	0	288	1087	38	1	1385	1	ADCK1	14	78398005	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	462483	78398005	28951535	3345	7813										
TSHR	7253	broad.mit.edu	37	chr14	81422098	81422098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgggcggaatggggtgttCgtctccaccctgcgagtgcc	15	13	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:81422098C>T	ENST00000541158.2	+	2	396	c.74C>T	c.(73-75)tCg>tTg	p.S25L	TSHR_ENST00000298171.2_Missense_Mutation_p.S25L|TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000554435.1_Missense_Mutation_p.S25L|TSHR_ENST00000342443.6_Missense_Mutation_p.S25L|TSHR_ENST00000554263.1_Missense_Mutation_p.S25L			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	25					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)			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)	ATGGGGTGTTCGTCTCCACCC	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		0				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.(73-75)tCg>tTg		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						115	106	109					14																	81422098		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.chr14:81422098C>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.74C>T	14.37:g.81422098C>T	ENSP00000441235:p.Ser25Leu		Somatic				TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000298171.2_Missense_Mutation_p.S25L|TSHR_ENST00000342443.6_Missense_Mutation_p.S25L|TSHR_ENST00000554435.1_Missense_Mutation_p.S25L|TSHR_ENST00000554263.1_Missense_Mutation_p.S25L	p.S25L			WXS	Illumina GAIIx	Phase_I	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	2	396	+			25					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.74C>T	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322246	0.23994	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000342443;ENST00000298171;ENST00000554263;ENST00000554435	T;T;T;T;T	0.79454	-0.91;-1.27;-0.91;-1.27;-1.27	5.2	0.149	0.14863	.	1.053480	0.07393	N	0.889451	T	0.52533	0.1740	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.31308	-0.9948	10	0.11182	T	0.66	.	4.0829	0.09934	0.1612:0.4946:0.0:0.3442	.	25;25;25;25	G3V2A9;F5GYU5;P16473-2;P16473	.;.;.;TSHR_HUMAN	L	25	ENSP00000441235:S25L;ENSP00000340113:S25L;ENSP00000298171:S25L;ENSP00000451202:S25L;ENSP00000450549:S25L	ENSP00000298171:S25L	S	+	2	0	TSHR	80491851	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-0.170000	0.09897	-0.282000	0.09128	-0.880000	0.02959	TCG		0.607	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		75	119	0	0	0	1	0	75	119					T	81422098	C	T	81422098	3	4	48	1	0	0	0	0	1	0	0	0	16637	893	31	1	76	1	TSHR	14	81422098	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3024093	81422098	25927442	3346	7814										
TSHR	7253	broad.mit.edu	37	chr14	81610603	81610603	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgaggcagggtctccacaAcatggaagatgtctatgaac	12	8	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:81610603A>G	ENST00000541158.2	+	11	2523	c.2201A>G	c.(2200-2202)aAc>aGc	p.N734S	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.N734S			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	734					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)			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)	GGTCTCCACAACATGGAAGAT	0.473			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		0				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.(2200-2202)aAc>aGc		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						116	107	110					14																	81610603		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.chr14:81610603A>G	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.2201A>G	14.37:g.81610603A>G	ENSP00000441235:p.Asn734Ser		Somatic				TSHR_ENST00000298171.2_Missense_Mutation_p.N734S|RP11-114N19.3_ENST00000557775.1_RNA	p.N734S			WXS	Illumina GAIIx	Phase_I	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	11	2523	+			734					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.2201A>G	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	A	5.500	0.277213	0.10403	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.74947	-0.89;-0.89	5.1	3.95	0.45737	.	0.503412	0.24873	N	0.034911	T	0.59770	0.2218	L	0.43152	1.355	0.27302	N	0.957557	B	0.21147	0.052	B	0.16722	0.016	T	0.43523	-0.9386	10	0.07175	T	0.84	.	8.611	0.33801	0.855:0.0:0.145:0.0	.	734	F5GYU5	.	S	734;381;734	ENSP00000441235:N734S;ENSP00000298171:N734S	ENSP00000298171:N734S	N	+	2	0	TSHR	80680356	0.969000	0.33509	0.975000	0.42487	0.689000	0.40095	1.904000	0.39868	2.052000	0.61016	0.459000	0.35465	AAC		0.473	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		37	59	0	0	0	1	0	37	59					G	81610603	A	G	81610603	3	3	48	1	0	0	0	0	1	0	0	0	16637	43	2	4	2376	4	TSHR	14	81610603	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	188505	81610603	25738937	3347	7815										
GALC	2581	broad.mit.edu	37	chr14	88407879	88407879	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggggtctctatgtatacaTcacactttatagtcagattg	8	8	3	1	rs386779713		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:88407879T>C	ENST00000261304.2	-	15	1800	c.1694A>G	c.(1693-1695)gAt>gGt	p.D565G	GALC_ENST00000544807.2_Missense_Mutation_p.D509G|GALC_ENST00000393569.2_Missense_Mutation_p.D539G|GALC_ENST00000393568.4_Missense_Mutation_p.D542G	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	565					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TATGTATACATCACACTTTAT	0.373																																						ENST00000261304.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1693-1695)gAt>gGt		galactosylceramidase							134	122	126					14																	88407879		1838	4086	5924	SO:0001583	missense	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88407879T>C	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"Krabbe disease"	606890	"galactosylceramidase (Krabbe disease)"				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1694A>G	14.37:g.88407879T>C	ENSP00000261304:p.Asp565Gly		Somatic				GALC_ENST00000393568.4_Missense_Mutation_p.D542G|GALC_ENST00000393569.2_Missense_Mutation_p.D539G|GALC_ENST00000544807.2_Missense_Mutation_p.D509G	p.D565G	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	WXS	Illumina GAIIx	Phase_I	P54803	GALC_HUMAN			15	1800	-			565					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	c.1694A>G	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	T	22.7	4.318474	0.81469	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.97801	0.9278	M	0.91406	3.205	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.992;0.997;0.998	D	0.98794	1.0737	10	0.87932	D	0	-31.7254	16.0255	0.80541	0.0:0.0:0.0:1.0	.	509;542;539;565	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	G	565;509;539;354;542	ENSP00000261304:D565G;ENSP00000437513:D509G;ENSP00000377199:D539G;ENSP00000377198:D542G	ENSP00000261304:D565G	D	-	2	0	GALC	87477632	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	7.983000	0.88140	2.195000	0.70347	0.477000	0.44152	GAT		0.373	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			48	67	0	0	0	1	0	48	67					C	88407879	T	C	88407879	3	2	48	1	0	0	0	0	1	0	0	0	6209	1435	50	4	375	4	GALC	14	88407879	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	6797276	88407879	18941661	3348	7816										
KCNK10	54207	broad.mit.edu	37	chr14	88789139	88789139	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggcgtctcgattggaaattTcattgcttcgttgcccagaa	10	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:88789139T>G	ENST00000340700.5	-	1	489				KCNK10_ENST00000319231.5_Missense_Mutation_p.K2Q	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10						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						attggaaatttcattgcttcg	0.473																																						ENST00000319231.5																			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.(4-6)Aaa>Caa		potassium channel, subfamily K, member 10							182	156	165					14																	88789139		2203	4300	6503	SO:0001627	intron_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88789139T>G	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.37+3623A>C	14.37:g.88789139T>G			Somatic				KCNK10_ENST00000340700.5_Intron	p.K2Q	NM_138317.2	NP_612190.1	WXS	Illumina GAIIx	Phase_I	P57789	KCNKA_HUMAN			1	454	-			0					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.4A>C	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.760942	0.69763	.	.	ENSG00000100433	ENST00000319231	D	0.92805	-3.11	4.58	4.58	0.56647	.	7739.210000	0.00659	U	0.000599	D	0.91945	0.7449	N	0.14661	0.345	0.28366	N	0.920215	P	0.51653	0.947	P	0.55965	0.788	D	0.83365	0.0004	10	0.87932	D	0	.	12.2008	0.54323	0.0:0.0:0.0:1.0	.	2	B2R8T4	.	Q	2	ENSP00000312811:K2Q	ENSP00000312811:K2Q	K	-	1	0	KCNK10	87858892	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.766000	0.62279	1.678000	0.50952	0.402000	0.26972	AAA		0.473	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		15	52	0	0	0	1	0	15	52					G	88789139	T	G	88789139	1	3	48	0	1	0	0	0	0	0	0	0	8068	1792	62	4		4	KCNK10	14	88789139	Intron	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	381260	88789139	18560401	3349	7817										
SPATA7	55812	broad.mit.edu	37	chr14	88892857	88892857	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggtttcagttagtcatttcGaaagcacccagtggggatct	11	9	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:88892857G>A	ENST00000393545.4	+	6	943	c.654G>A	c.(652-654)tcG>tcA	p.S218S	SPATA7_ENST00000556553.1_Silent_p.S186S|SPATA7_ENST00000045347.7_Silent_p.S218S|SPATA7_ENST00000356583.5_Silent_p.S186S	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	218					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TAGTCATTTCGAAAGCACCCA	0.468																																						ENST00000556553.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						c.(556-558)tcG>tcA		spermatogenesis associated 7							64	65	65					14																	88892857		2203	4300	6503	SO:0001819	synonymous_variant	55812				response to stimulus|visual perception			g.chr14:88892857G>A	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"Leber congenital amaurosis 3"	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.654G>A	14.37:g.88892857G>A			Somatic				SPATA7_ENST00000045347.7_Silent_p.S218S|SPATA7_ENST00000393545.4_Silent_p.S218S|SPATA7_ENST00000356583.5_Silent_p.S186S	p.S186S			WXS	Illumina GAIIx	Phase_I	Q9P0W8	SPAT7_HUMAN			6	1117	+			218					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Silent	SNP	ENST00000393545.4	37	c.558G>A	CCDS9883.1																																																																																				0.468	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			27	51	0	0	0	1	0	27	51					A	88892857	G	A	88892857	2	1	48	1	0	0	0	0	0	0	0	1	15029	1045	37	1		1	SPATA7	14	88892857	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	103718	88892857	18456683	3350	7818										
EML5	161436	broad.mit.edu	37	chr14	89131693	89131693	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatcttaccaggtgaaaatcGaatatctgaaatcatatctt	6	7	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:89131693G>A	ENST00000380664.5	-	22	3264	c.3265C>T	c.(3265-3267)Cga>Tga	p.R1089*	EML5_ENST00000352093.5_Nonsense_Mutation_p.R1051*|EML5_ENST00000554922.1_Nonsense_Mutation_p.R1089*			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1089						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						GGTGAAAATCGAATATCTGAA	0.343																																						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.(3265-3267)Cga>Tga		echinoderm microtubule associated protein like 5							39	36	37					14																	89131693		1837	4099	5936	SO:0001587	stop_gained	161436					cytoplasm|microtubule		g.chr14:89131693G>A	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.3265C>T	14.37:g.89131693G>A	ENSP00000370039:p.Arg1089*		Somatic				EML5_ENST00000380664.5_Nonsense_Mutation_p.R1089*|EML5_ENST00000352093.5_Nonsense_Mutation_p.R1051*	p.R1089*	NM_183387.2	NP_899243.1	WXS	Illumina GAIIx	Phase_I	Q05BV3	EMAL5_HUMAN			22	3513	-			1089					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Nonsense_Mutation	SNP	ENST00000380664.5	37	c.3265C>T	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	G	45	11.398119	0.99556	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	.	.	.	5.31	2.4	0.29515	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-2.7709	14.0345	0.64636	0.0:0.0:0.6036:0.3964	.	.	.	.	X	1089;1051;1089	.	ENSP00000298315:R1051X	R	-	1	2	EML5	88201446	1.000000	0.71417	0.996000	0.52242	0.923000	0.55619	2.213000	0.42844	0.343000	0.23821	-0.181000	0.13052	CGA		0.343	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			8	8	0	0	0	1	0	8	8					A	89131693	G	A	89131693	4	1	48	1	0	0	0	0	0	1	0	0	5102	1066	37	1	2756	1	EML5	14	89131693	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	238836	89131693	18217847	3351	7819										
EML5	161436	broad.mit.edu	37	chr14	89202808	89202808	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgcccttgcataattagaaAaggtttatttctttcttgca	6	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:89202808A>T	ENST00000380664.5	-	7	948	c.949T>A	c.(949-951)Ttt>Att	p.F317I	EML5_ENST00000554922.1_Missense_Mutation_p.F317I|EML5_ENST00000352093.5_Missense_Mutation_p.F317I			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	317				F -> S (in Ref. 2; AAH32685). {ECO:0000305}.		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						ATAATTAGAAAAGGTTTATTT	0.428																																						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.(949-951)Ttt>Att		echinoderm microtubule associated protein like 5							180	176	177					14																	89202808		1900	4111	6011	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89202808A>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.949T>A	14.37:g.89202808A>T	ENSP00000370039:p.Phe317Ile		Somatic				EML5_ENST00000380664.5_Missense_Mutation_p.F317I|EML5_ENST00000352093.5_Missense_Mutation_p.F317I	p.F317I	NM_183387.2	NP_899243.1	WXS	Illumina GAIIx	Phase_I	Q05BV3	EMAL5_HUMAN			7	1197	-			317	F -> S (in Ref. 2; AAH32685).				B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.949T>A	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.469185	0.43839	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.01185	5.21;5.21;5.21	5.15	5.15	0.70609	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.178499	0.49916	D	0.000133	T	0.00906	0.0030	N	0.08118	0	0.58432	D	0.999994	B	0.22211	0.066	B	0.17098	0.017	T	0.69480	-0.5134	10	0.19590	T	0.45	-11.8549	15.1382	0.72586	1.0:0.0:0.0:0.0	.	317	Q05BV3	EMAL5_HUMAN	I	317	ENSP00000451998:F317I;ENSP00000298315:F317I;ENSP00000370039:F317I	ENSP00000298315:F317I	F	-	1	0	EML5	88272561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.951000	0.75983	2.166000	0.68216	0.533000	0.62120	TTT		0.428	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			52	89	0	0	0	1	0	52	89					T	89202808	A	T	89202808	3	4	48	1	0	0	0	0	1	0	0	0	5102	14	1	4	5132	4	EML5	14	89202808	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	71115	89202808	18146732	3352	7820										
TDP1	55775	broad.mit.edu	37	chr14	90429920	90429920	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaggggagggccaggacatTtgggacatgctggataaagg	17	6	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:90429920T>G	ENST00000335725.4	+	3	712	c.462T>G	c.(460-462)atT>atG	p.I154M	TDP1_ENST00000393454.2_Missense_Mutation_p.I154M|TDP1_ENST00000555880.1_Missense_Mutation_p.I154M|TDP1_ENST00000393452.3_Missense_Mutation_p.I154M|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000357382.3_5'UTR	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	154					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GCCAGGACATTTGGGACATGC	0.522								Repair of DNA-protein crosslinks																														ENST00000335725.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(460-462)atT>atG	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1							63	58	60					14																	90429920		2203	4300	6503	SO:0001583	missense	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90429920T>G	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.462T>G	14.37:g.90429920T>G	ENSP00000337353:p.Ile154Met		Somatic				TDP1_ENST00000393454.2_Missense_Mutation_p.I154M|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393452.3_Missense_Mutation_p.I154M|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000555880.1_Missense_Mutation_p.I154M	p.I154M	NM_018319.3	NP_060789.2	WXS	Illumina GAIIx	Phase_I	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	3	712	+		all_cancers(154;0.185)	154					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	c.462T>G	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.459047	0.43634	.	.	ENSG00000042088	ENST00000393452;ENST00000554180;ENST00000393454;ENST00000553617;ENST00000335725;ENST00000556498;ENST00000555880	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.82;1.51	5.36	-3.18	0.05186	.	0.498118	0.20576	N	0.089624	T	0.13372	0.0324	L	0.27053	0.805	0.80722	D	1	B;B;B;B	0.29988	0.006;0.003;0.264;0.003	B;B;B;B	0.24269	0.017;0.008;0.052;0.006	T	0.06232	-1.0838	10	0.33141	T	0.24	-9.7989	3.3047	0.06996	0.1123:0.4176:0.2278:0.2424	.	154;154;154;154	G3V2F4;E7EPD8;G3V4W8;Q9NUW8	.;.;.;TYDP1_HUMAN	M	154;154;154;55;154;154;154	ENSP00000377098:I154M;ENSP00000450872:I154M;ENSP00000377099:I154M;ENSP00000450708:I55M;ENSP00000337353:I154M;ENSP00000452183:I154M;ENSP00000450628:I154M	ENSP00000337353:I154M	I	+	3	3	TDP1	89499673	0.337000	0.24766	0.982000	0.44146	0.993000	0.82548	0.093000	0.15086	-0.191000	0.10448	0.459000	0.35465	ATT		0.522	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		9	63	0	0	0	1	0	9	63					G	90429920	T	G	90429920	3	3	48	1	0	0	0	0	1	0	0	0	15743	1829	64	4	464	4	TDP1	14	90429920	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1227112	90429920	16919620	3353	7821										
RPS6KA5	9252	broad.mit.edu	37	chr14	91338638	91338638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatcaacattctgaaggcaaAacccctctctcttgtatttg	5	11	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:91338638A>G	ENST00000261991.3	-	17	2362	c.2189T>C	c.(2188-2190)tTt>tCt	p.F730S	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.F651S	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	730					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)		CTGAAGGCAAAACCCCTCTCT	0.458																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(2188-2190)tTt>tCt		ribosomal protein S6 kinase, 90kDa, polypeptide 5							77	71	73					14																	91338638		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.chr14:91338638A>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.2189T>C	14.37:g.91338638A>G	ENSP00000261991:p.Phe730Ser		Somatic				RPS6KA5_ENST00000536315.2_Missense_Mutation_p.F651S	p.F730S	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	2362	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	730					O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.2189T>C	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.768103	0.69878	.	.	ENSG00000100784	ENST00000261991;ENST00000536315	T;T	0.66995	-0.24;-0.24	5.25	5.25	0.73442	Protein kinase-like domain (1);	0.049158	0.85682	D	0.000000	T	0.79534	0.4462	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80614	-0.1304	10	0.52906	T	0.07	.	15.4635	0.75381	1.0:0.0:0.0:0.0	.	730	O75582	KS6A5_HUMAN	S	730;651	ENSP00000261991:F730S;ENSP00000442803:F651S	ENSP00000261991:F730S	F	-	2	0	RPS6KA5	90408391	1.000000	0.71417	0.820000	0.32676	0.848000	0.48234	9.229000	0.95273	2.111000	0.64477	0.533000	0.62120	TTT		0.458	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		17	22	0	0	0	1	0	17	22					G	91338638	A	G	91338638	3	3	48	1	0	0	0	0	1	0	0	0	13669	14	1	4	223	4	RPS6KA5	14	91338638	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	908718	91338638	16010902	3354	7822										
CATSPERB	79820	broad.mit.edu	37	chr14	92139243	92139243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaggtaaactccagtaccacGctcttggtcaacaagaaatg	9	10	2	1	rs150597625		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:92139243G>A	ENST00000256343.3	-	13	1252	c.1096C>T	c.(1096-1098)Cgt>Tgt	p.R366C		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	366					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)				CCAGTACCACGCTCTTGGTCA	0.363													G|||	1	0.000199681	8e-04	0	5008	,	,		15774	0		0	False		,,,				2504	0					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.(1096-1098)Cgt>Tgt		catsper channel auxiliary subunit beta							113	121	118					14																	92139243		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92139243G>A	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1096C>T	14.37:g.92139243G>A	ENSP00000256343:p.Arg366Cys		Somatic					p.R366C	NM_024764.2	NP_079040.2	WXS	Illumina GAIIx	Phase_I	Q9H7T0	CTSRB_HUMAN			13	1252	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	366					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.1096C>T	CCDS32142.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.877	0.531179	0.13127	.	.	ENSG00000133962	ENST00000256343	T	0.47177	0.85	5.43	2.19	0.27852	.	1.514770	0.04452	N	0.372747	T	0.34106	0.0886	N	0.08118	0	0.09310	N	1	D	0.54772	0.968	B	0.43783	0.431	T	0.44862	-0.9300	10	0.72032	D	0.01	-0.3978	10.8363	0.46690	0.0:0.0:0.537:0.463	.	366	Q9H7T0	CTSRB_HUMAN	C	366	ENSP00000256343:R366C	ENSP00000256343:R366C	R	-	1	0	CATSPERB	91208996	0.011000	0.17503	0.706000	0.30403	0.011000	0.07611	0.371000	0.20450	1.218000	0.43458	0.563000	0.77884	CGT		0.363	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		31	67	0	0	0	1	0	31	67					A	92139243	G	A	92139243	3	1	48	1	0	0	0	0	1	0	0	0	2693	1087	38	1	2314	1	CATSPERB	14	92139243	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	800605	92139243	15210297	3355	7823										
CATSPERB	79820	broad.mit.edu	37	chr14	92159544	92159544	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaggtgaggataactaaaaAatgattcgttaaaaccatat	8	4	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:92159544A>C	ENST00000256343.3	-	9	913	c.757T>G	c.(757-759)Ttt>Gtt	p.F253V		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	253					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)				ATAACTAAAAAATGATTCGTT	0.338																																						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.(757-759)Ttt>Gtt		catsper channel auxiliary subunit beta							117	113	115					14																	92159544		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92159544A>C	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.757T>G	14.37:g.92159544A>C	ENSP00000256343:p.Phe253Val		Somatic					p.F253V	NM_024764.2	NP_079040.2	WXS	Illumina GAIIx	Phase_I	Q9H7T0	CTSRB_HUMAN			9	913	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	253					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.757T>G	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.463763	0.43736	.	.	ENSG00000133962	ENST00000256343	T	0.44083	0.93	5.88	2.18	0.27775	.	0.628911	0.15008	N	0.285774	T	0.31071	0.0785	L	0.53249	1.67	0.28692	N	0.904563	B	0.27351	0.176	B	0.24541	0.054	T	0.20075	-1.0286	10	0.20519	T	0.43	-11.2695	4.6509	0.12594	0.5136:0.3488:0.1376:0.0	.	253	Q9H7T0	CTSRB_HUMAN	V	253	ENSP00000256343:F253V	ENSP00000256343:F253V	F	-	1	0	CATSPERB	91229297	0.904000	0.30761	0.972000	0.41901	0.483000	0.33249	0.560000	0.23500	0.444000	0.26612	0.459000	0.35465	TTT		0.338	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		20	53	0	0	0	1	0	20	53					C	92159544	A	C	92159544	3	2	48	1	0	0	0	0	1	0	0	0	2693	14	1	4	2669	4	CATSPERB	14	92159544	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	20301	92159544	15189996	3356	7824										
CATSPERB	79820	broad.mit.edu	37	chr14	92174488	92174488	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtctgttggcatttacctcGaataacatccaatagagttc	7	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:92174488G>A	ENST00000256343.3	-	6	619	c.463C>T	c.(463-465)Cga>Tga	p.R155*		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	155					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)		p.R155*(2)		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)				CATTTACCTCGAATAACATCC	0.353																																						ENST00000256343.3																			2	Substitution - Nonsense(2)	p.R155*(2)	ovary(1)|large_intestine(1)	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.(463-465)Cga>Tga		catsper channel auxiliary subunit beta							132	124	127					14																	92174488		2201	4297	6498	SO:0001587	stop_gained	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92174488G>A	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"chromosome 14 open reading frame 161", "cation channel, sperm-associated, beta"	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.463C>T	14.37:g.92174488G>A	ENSP00000256343:p.Arg155*		Somatic					p.R155*	NM_024764.2	NP_079040.2	WXS	Illumina GAIIx	Phase_I	Q9H7T0	CTSRB_HUMAN			6	619	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	155					A0AV51	Nonsense_Mutation	SNP	ENST00000256343.3	37	c.463C>T	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598942	0.87055	.	.	ENSG00000133962	ENST00000256343;ENST00000553329	.	.	.	5.11	3.17	0.36434	.	0.000000	0.37809	N	0.001933	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4392	0.50086	0.0:0.0:0.5479:0.4521	.	.	.	.	X	155;108	.	ENSP00000256343:R155X	R	-	1	2	CATSPERB	91244241	0.874000	0.30092	0.849000	0.33467	0.315000	0.28087	1.033000	0.30191	1.120000	0.41904	0.467000	0.42956	CGA		0.353	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		4	37	0	0	0	1	0	4	37					A	92174488	G	A	92174488	4	1	48	1	0	0	0	0	0	1	0	0	2693	1066	37	1	2975	1	CATSPERB	14	92174488	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	14944	92174488	15175052	3357	7825										
FBLN5	10516	broad.mit.edu	37	chr14	92353567	92353567	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacgccatcttcctcaagttCatatcctgggtcacagcggc	8	14	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:92353567C>A	ENST00000342058.4	-	7	1302	c.709G>T	c.(709-711)Gaa>Taa	p.E237*	FBLN5_ENST00000267620.10_Nonsense_Mutation_p.E278*|FBLN5_ENST00000556154.1_Nonsense_Mutation_p.E242*	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	237	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TCCTCAAGTTCATATCCTGGG	0.552																																						ENST00000267620.10																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28						c.(832-834)Gaa>Taa		fibulin 5							213	185	194					14																	92353567		2203	4300	6503	SO:0001587	stop_gained	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92353567C>A	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"Fibulins"	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.709G>T	14.37:g.92353567C>A	ENSP00000345008:p.Glu237*		Somatic				FBLN5_ENST00000342058.4_Nonsense_Mutation_p.E237*|FBLN5_ENST00000556154.1_Nonsense_Mutation_p.E242*	p.E278*			WXS	Illumina GAIIx	Phase_I	Q9UBX5	FBLN5_HUMAN			8	1001	-		all_cancers(154;0.0722)	237			EGF-like 5; calcium-binding (Potential).		O75966|Q6IAL4|Q6UWA3	Nonsense_Mutation	SNP	ENST00000342058.4	37	c.832G>T	CCDS9898.1	.	.	.	.	.	.	.	.	.	.	C	40	8.139053	0.98672	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154	.	.	.	5.3	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	13.7803	0.63079	0.0:0.9261:0.0:0.0739	.	.	.	.	X	278;237;242	.	ENSP00000267620:E334X	E	-	1	0	FBLN5	91423320	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.776000	0.85560	1.368000	0.46115	0.561000	0.74099	GAA		0.552	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			70	117	1	0	1.05635e-38	1	1.52265e-38	70	117					A	92353567	C	A	92353567	4	1	48	1	0	0	0	0	0	1	0	0	5708	835	29	2	657	2	FBLN5	14	92353567	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	179079	92353567	14995973	3358	7826										
SLC24A4	123041	broad.mit.edu	37	chr14	92958061	92958061	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaagcaacgtgtttgacatCctggtaggacttggtgtacc	13	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:92958061C>T	ENST00000532405.1	+	15	1816	c.1590C>T	c.(1588-1590)atC>atT	p.I530I	SLC24A4_ENST00000298877.1_Silent_p.I513I|SLC24A4_ENST00000351924.5_Silent_p.I494I|SLC24A4_ENST00000531433.1_Silent_p.I511I|SLC24A4_ENST00000393265.2_Silent_p.I466I			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	530					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TGTTTGACATCCTGGTAGGAC	0.468																																					NSCLC(10;315 435 10383 28450 38798)	ENST00000532405.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36						c.(1588-1590)atC>atT		solute carrier family 24 (sodium/potassium/calcium exchanger), member 4							193	165	174					14																	92958061		2203	4300	6503	SO:0001819	synonymous_variant	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92958061C>T	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"Solute carriers"	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1590C>T	14.37:g.92958061C>T			Somatic				SLC24A4_ENST00000298877.1_Silent_p.I513I|SLC24A4_ENST00000393265.2_Silent_p.I466I|SLC24A4_ENST00000531433.1_Silent_p.I511I|SLC24A4_ENST00000351924.5_Silent_p.I494I	p.I530I			WXS	Illumina GAIIx	Phase_I	Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	15	1816	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	530					B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Silent	SNP	ENST00000532405.1	37	c.1590C>T	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	9.363	1.068484	0.20067	.	.	ENSG00000140090	ENST00000525557	.	.	.	5.56	4.67	0.58626	.	.	.	.	.	T	0.59702	0.2213	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57528	-0.7796	4	.	.	.	.	9.1436	0.36919	0.0:0.7906:0.0:0.2094	.	.	.	.	S	396	.	.	P	+	1	0	SLC24A4	92027814	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	0.837000	0.27558	1.345000	0.45676	0.561000	0.74099	CCT		0.468	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		4	63	0	0	0	1	0	4	63					T	92958061	C	T	92958061	2	4	48	1	0	0	0	0	0	0	0	1	14483	845	30	3		3	SLC24A4	14	92958061	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	604494	92958061	14391479	3359	7827										
UBR7	55148	broad.mit.edu	37	chr14	93685599	93685599	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcaacgcagaatcaaaatcTggctgcaaacttcaggagct	8	11	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:93685599T>A	ENST00000013070.6	+	8	1088	c.852T>A	c.(850-852)tcT>tcA	p.S284S	UBR7_ENST00000416753.1_Silent_p.S208S	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	284							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						AATCAAAATCTGGCTGCAAAC	0.383																																						ENST00000013070.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						c.(850-852)tcT>tcA		ubiquitin protein ligase E3 component n-recognin 7 (putative)							57	56	57					14																	93685599		2203	4300	6503	SO:0001819	synonymous_variant	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93685599T>A	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"Ubiquitin protein ligase E3 component n-recognins"	20344	protein-coding gene	gene with protein product		613816	"chromosome 14 open reading frame 130"	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.852T>A	14.37:g.93685599T>A			Somatic				UBR7_ENST00000416753.1_Silent_p.S208S	p.S284S	NM_175748.3	NP_786924.2	WXS	Illumina GAIIx	Phase_I	Q8N806	UBR7_HUMAN			8	1088	+			284					Q86U21|Q86UA9|Q96BY0|Q9NVV6	Silent	SNP	ENST00000013070.6	37	c.852T>A	CCDS9909.1																																																																																				0.383	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		4	31	0	0	0	1	0	4	31					A	93685599	T	A	93685599	2	1	48	1	0	0	0	0	0	0	0	1	16921	1567	55	4		4	UBR7	14	93685599	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	727538	93685599	13663941	3360	7828										
KIAA1409	57578	broad.mit.edu	37	chr14	94007016	94007016	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctttggcagcttgttgaaaGaagccgagttccatgctgag	12	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:94007016G>T	ENST00000393151.2	+	13	1363	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	UNC79_ENST00000553484.1_Nonsense_Mutation_p.E455*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.E455*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.E278*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	455					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						CTTGTTGAAAGAAGCCGAGTT	0.498																																						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.(1363-1365)Gaa>Taa		unc-79 homolog (C. elegans)							65	71	69					14																	94007016		2203	4300	6503	SO:0001587	stop_gained	57578					integral to membrane		g.chr14:94007016G>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.1363G>T	14.37:g.94007016G>T	ENSP00000376858:p.Glu455*		Somatic				UNC79_ENST00000555664.1_Nonsense_Mutation_p.E455*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.E278*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.E455*	p.E455*			WXS	Illumina GAIIx	Phase_I	Q9P2D8	UNC79_HUMAN			13	1517	+			455					B5MDL6|Q6ZUT7	Nonsense_Mutation	SNP	ENST00000393151.2	37	c.1363G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.573856	0.98368	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.686	19.9659	0.97266	0.0:0.0:1.0:0.0	.	.	.	.	X	278;455;455;455;455	.	ENSP00000256339:E278X	E	+	1	0	KIAA1409	93076769	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.869000	0.99810	2.711000	0.92665	0.650000	0.86243	GAA		0.498	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		21	43	1	0	8.04996e-18	1	1.08523e-17	21	43					T	94007016	G	T	94007016	4	4	48	1	0	0	0	0	0	1	0	0	8239	943	33	2	870	2	KIAA1409	14	94007016	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	321417	94007016	13342524	3361	7829										
KIAA1409	57578	broad.mit.edu	37	chr14	94121601	94121601	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtctaaataacaaaaagaatTtaccagcagggggtgctatg	10	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:94121601T>G	ENST00000393151.2	+	39	6421	c.6421T>G	c.(6421-6423)Tta>Gta	p.L2141V	UNC79_ENST00000553484.1_Missense_Mutation_p.L2163V|UNC79_ENST00000555664.1_Missense_Mutation_p.L2102V|UNC79_ENST00000256339.4_Missense_Mutation_p.L1964V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2141					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						CAAAAAGAATTTACCAGCAGG	0.418																																						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.(6487-6489)Tta>Gta		unc-79 homolog (C. elegans)							91	92	92					14																	94121601		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94121601T>G	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6421T>G	14.37:g.94121601T>G	ENSP00000376858:p.Leu2141Val		Somatic				UNC79_ENST00000555664.1_Missense_Mutation_p.L2102V|UNC79_ENST00000256339.4_Missense_Mutation_p.L1964V|UNC79_ENST00000393151.2_Missense_Mutation_p.L2141V	p.L2163V			WXS	Illumina GAIIx	Phase_I	Q9P2D8	UNC79_HUMAN			40	6641	+			2141					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.6487T>G		.	.	.	.	.	.	.	.	.	.	T	20.6	4.018211	0.75275	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.50188	0.1601	M	0.62723	1.935	0.44162	D	0.996967	D	0.67145	0.996	D	0.72625	0.978	T	0.52837	-0.8522	10	0.87932	D	0	-10.097	10.4357	0.44435	0.0:0.0723:0.0:0.9277	.	2163	C9JQL1	.	V	1964;2102;2163;2141;2163	ENSP00000256339:L1964V;ENSP00000450868:L2102V;ENSP00000451360:L2163V;ENSP00000376858:L2141V	ENSP00000256339:L1964V	L	+	1	2	KIAA1409	93191354	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.796000	0.47869	2.216000	0.71823	0.528000	0.53228	TTA		0.418	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		34	41	0	0	0	1	0	34	41					G	94121601	T	G	94121601	3	3	48	1	0	0	0	0	1	0	0	0	8239	1838	64	4	6032	4	KIAA1409	14	94121601	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	114585	94121601	13227939	3362	7830										
DDX24	57062	broad.mit.edu	37	chr14	94545825	94545825	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgagctagactttccctcCtcctcctcctcttcttctga	6	16	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:94545825C>A	ENST00000330836.5	-	2	395	c.264G>T	c.(262-264)gaG>gaT	p.E88D	IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000554544.1_5'Flank|IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000556381.1_5'Flank|IFI27L1_ENST00000557066.1_5'Flank|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000555523.1_5'Flank|DDX24_ENST00000555054.1_Missense_Mutation_p.E45D|IFI27L1_ENST00000553664.1_5'Flank	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	88	Poly-Glu.				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)		ACTTTCCCTCCTCCTCCTCCT	0.438																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(262-264)gaG>gaT		DEAD (Asp-Glu-Ala-Asp) box helicase 24							168	163	165					14																	94545825		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94545825C>A	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.264G>T	14.37:g.94545825C>A	ENSP00000328690:p.Glu88Asp		Somatic				DDX24_ENST00000555054.1_Missense_Mutation_p.E45D|DDX24_ENST00000544005.1_Intron	p.E88D	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)	2	395	-		all_cancers(154;0.12)	88			Poly-Glu.		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.264G>T	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	7.262	0.605451	0.14002	.	.	ENSG00000089737	ENST00000330836;ENST00000440370;ENST00000555054;ENST00000542247	T;T	0.03635	3.86;3.88	0.631	-1.26	0.09376	.	0.284602	0.43919	D	0.000511	T	0.03011	0.0089	L	0.52573	1.65	0.09310	N	1	P	0.43231	0.801	B	0.38500	0.275	T	0.45934	-0.9227	9	0.21540	T	0.41	-7.1193	.	.	.	.	88	Q9GZR7	DDX24_HUMAN	D	88;88;45;45	ENSP00000328690:E88D;ENSP00000452145:E45D	ENSP00000328690:E88D	E	-	3	2	DDX24	93615578	0.955000	0.32602	0.679000	0.29978	0.945000	0.59286	0.116000	0.15561	-0.396000	0.07703	0.121000	0.15741	GAG		0.438	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		7	94	1	0	0.248553	1	0.24944	7	94					A	94545825	C	A	94545825	3	1	48	1	0	0	0	0	1	0	0	0	4353	680	24	5	2347	5	DDX24	14	94545825	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	424224	94545825	12803715	3363	7831										
DICER1	23405	broad.mit.edu	37	chr14	95560464	95560464	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaggtagtccaaaatcgcatCtcccaggaattctaagcgct	9	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:95560464C>T	ENST00000526495.1	-	26	5416	c.5125G>A	c.(5125-5127)Gat>Aat	p.D1709N	DICER1_ENST00000541352.1_Missense_Mutation_p.D1709N|DICER1_ENST00000393063.1_Missense_Mutation_p.D1709N|DICER1_ENST00000556045.1_Missense_Mutation_p.D607N|DICER1_ENST00000343455.3_Missense_Mutation_p.D1709N|DICER1_ENST00000527416.2_5'Flank|DICER1_ENST00000527414.1_Missense_Mutation_p.D1709N			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1709	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.		D -> E (in non-epithelial ovarian tumor; somatic mutation; results in reduced RNase IIIb activity but retention of RNase IIIa activity). {ECO:0000269|PubMed:22187960}.|D -> G (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|D -> N (in non-epithelial ovarian tumor; somatic mutation; results in reduced RNase IIIb activity but retention of RNase IIIa activity). {ECO:0000269|PubMed:22187960}.		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)	p.D1709N(1)		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)		AAAATCGCATCTCCCAGGAAT	0.527			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			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"		1	Substitution - Missense(1)	p.D1709N(1)	endometrium(1)	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.(5125-5127)Gat>Aat		dicer 1, ribonuclease type III							69	73	72					14																	95560464		2203	4300	6503	SO:0001583	missense	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.chr14:95560464C>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.5125G>A	14.37:g.95560464C>T	ENSP00000437256:p.Asp1709Asn		Somatic				DICER1_ENST00000343455.3_Missense_Mutation_p.D1709N|DICER1_ENST00000527414.1_Missense_Mutation_p.D1709N|DICER1_ENST00000556045.1_Missense_Mutation_p.D607N|DICER1_ENST00000393063.1_Missense_Mutation_p.D1709N|DICER1_ENST00000541352.1_Missense_Mutation_p.D1709N	p.D1709N			WXS	Illumina GAIIx	Phase_I	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	26	5416	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1709			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5125G>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	36	5.678665	0.96764	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	5.43	5.43	0.79202	Ribonuclease III (6);	0.000000	0.85682	D	0.000000	D	0.98261	0.9424	H	0.99668	4.69	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.995	D	0.99785	1.1029	10	0.87932	D	0	-27.7505	19.2735	0.94021	0.0:1.0:0.0:0.0	.	607;1709	B3KRG4;Q9UPY3	.;DICER_HUMAN	N	1709;1709;1709;1709;607;1709	ENSP00000343745:D1709N;ENSP00000437256:D1709N;ENSP00000376783:D1709N;ENSP00000435681:D1709N;ENSP00000451041:D607N;ENSP00000444719:D1709N	ENSP00000343745:D1709N	D	-	1	0	DICER1	94630217	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.421000	0.80204	2.549000	0.85964	0.655000	0.94253	GAT		0.527	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			31	47	0	0	0	1	0	31	47					T	95560464	C	T	95560464	3	4	48	1	0	0	0	0	1	0	0	0	4523	913	32	3	659	3	DICER1	14	95560464	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1014639	95560464	11789076	3364	7832										
C14orf49	161176	broad.mit.edu	37	chr14	95884214	95884214	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgagcgtgaaggagcgggcGaagttgttggccagggtgca	19	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:95884214G>A	ENST00000334258.5	-	17	2891	c.2877C>T	c.(2875-2877)ttC>ttT	p.F959F	SYNE3_ENST00000554873.1_Silent_p.F716F|SYNE3_ENST00000557275.1_Silent_p.F954F	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	959	KASH. {ECO:0000255|PROSITE- ProRule:PRU00385}.				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						AGGAGCGGGCGAAGTTGTTGG	0.612																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(2875-2877)ttC>ttT		spectrin repeat containing, nuclear envelope family member 3							152	139	144					14																	95884214		2203	4300	6503	SO:0001819	synonymous_variant	161176							g.chr14:95884214G>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.2877C>T	14.37:g.95884214G>A			Somatic				SYNE3_ENST00000554873.1_Silent_p.F716F|SYNE3_ENST00000557275.1_Silent_p.F954F	p.F959F	NM_152592.3	NP_689805.3	WXS	Illumina GAIIx	Phase_I					17	2891	-								A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.2877C>T	CCDS9935.1																																																																																				0.612	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		58	97	0	0	0	1	0	58	97					A	95884214	G	A	95884214	2	1	48	1	0	0	0	0	0	0	0	1	1778	1049	37	1		1	C14orf49	14	95884214	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	323750	95884214	11465326	3365	7833										
TCL1B	9623	broad.mit.edu	37	chr14	96157608	96157608	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgctccctctcctgcagattGactctatggagcagctggtc	10	13	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:96157608G>T	ENST00000340722.7	+	3	388	c.337G>T	c.(337-339)Gac>Tac	p.D113Y	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	113										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CCTGCAGATTGACTCTATGGA	0.587																																						ENST00000340722.7																			0				cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(337-339)Gac>Tac		T-cell leukemia/lymphoma 1B							84	77	80					14																	96157608		2203	4300	6503	SO:0001583	missense	9623							g.chr14:96157608G>T	AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.337G>T	14.37:g.96157608G>T	ENSP00000343223:p.Asp113Tyr		Somatic				RP11-1070N10.6_ENST00000461160.1_RNA	p.D113Y	NM_004918.3	NP_004909.1	WXS	Illumina GAIIx	Phase_I	O95988	TCL1B_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	3	388	+		all_cancers(154;0.103)	113					A6NEK7|Q6IAR7|Q9UBQ4	Missense_Mutation	SNP	ENST00000340722.7	37	c.337G>T	CCDS32151.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.814009	0.32053	.	.	ENSG00000213231	ENST00000340722;ENST00000538038	T	0.32023	1.47	2.4	-1.12	0.09808	.	.	.	.	.	T	0.18551	0.0445	L	0.33485	1.01	0.09310	N	1	B	0.24618	0.107	B	0.23716	0.048	T	0.24584	-1.0156	9	0.41790	T	0.15	0.3292	2.9821	0.05956	0.1613:0.0:0.3827:0.456	.	113	O95988	TCL1B_HUMAN	Y	113	ENSP00000343223:D113Y	ENSP00000343223:D113Y	D	+	1	0	TCL1B	95227361	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.107000	0.10873	-0.249000	0.09569	0.313000	0.20887	GAC		0.587	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315123.2			18	24	1	0	0.00074312	1	0.000783089	18	24					T	96157608	G	T	96157608	3	4	48	1	0	0	0	0	1	0	0	0	15720	1290	45	2	347	2	TCL1B	14	96157608	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	273394	96157608	11191932	3366	7834										
BDKRB1	623	broad.mit.edu	37	chr14	96730613	96730613	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcctcccccatgaggcctgGcactttgcaaggattgtgga	11	13	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:96730613G>A	ENST00000216629.6	+	3	1200	c.594G>A	c.(592-594)tgG>tgA	p.W198*	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Nonsense_Mutation_p.W198*	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	198					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		ATGAGGCCTGGCACTTTGCAA	0.567																																						ENST00000216629.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16						c.(592-594)tgG>tgA		bradykinin receptor B1							86	77	80					14																	96730613		2203	4300	6503	SO:0001587	stop_gained	0				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730613G>A	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"GPCR / Class A : Bradykinin receptors"	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.594G>A	14.37:g.96730613G>A	ENSP00000216629:p.Trp198*		Somatic				RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Nonsense_Mutation_p.W198*	p.W198*	NM_000710.3	NP_000701.2	WXS	Illumina GAIIx	Phase_I	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	1200	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	198					A8K7F5|Q546S7|Q8N0Y8	Nonsense_Mutation	SNP	ENST00000216629.6	37	c.594G>A	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	G	40	7.995924	0.98602	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8871	17.1764	0.86843	0.0:0.0:1.0:0.0	.	.	.	.	X	198	.	ENSP00000216629:W198X	W	+	3	0	BDKRB1	95800366	1.000000	0.71417	0.998000	0.56505	0.310000	0.27922	4.708000	0.61859	2.286000	0.76751	0.462000	0.41574	TGG		0.567	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			30	43	0	0	0	1	0	30	43					A	96730613	G	A	96730613	4	1	48	1	0	0	0	0	0	1	0	0	1392	1212	42	3	596	3	BDKRB1	14	96730613	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	573005	96730613	10618927	3367	7835										
ATG2B	55102	broad.mit.edu	37	chr14	96798990	96798990	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catggagaagaatacttcttCttctagagagaattaaacta	7	6	3	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:96798990C>A	ENST00000359933.4	-	9	2103	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	404					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)		AATACTTCTTCTTCTAGAGAG	0.378																																						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.(1210-1212)Gaa>Taa		autophagy related 2B							61	60	60					14																	96798990		1824	4075	5899	SO:0001587	stop_gained	55102							g.chr14:96798990C>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.1210G>T	14.37:g.96798990C>A	ENSP00000353010:p.Glu404*		Somatic					p.E404*	NM_018036.5	NP_060506.5	WXS	Illumina GAIIx	Phase_I	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	9	2103	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	404					Q6ZRE7|Q96DQ3|Q9NW80	Nonsense_Mutation	SNP	ENST00000359933.4	37	c.1210G>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	47	13.644734	0.99754	.	.	ENSG00000066739	ENST00000359933	.	.	.	6.06	6.06	0.98353	.	0.622148	0.15061	U	0.282735	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	404	.	ENSP00000353010:E404X	E	-	1	0	ATG2B	95868743	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.244000	0.78228	2.882000	0.98803	0.655000	0.94253	GAA		0.378	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		18	19	1	0	5.03518e-11	1	6.23768e-11	18	19					A	96798990	C	A	96798990	4	1	48	1	0	0	0	0	0	1	0	0	1094	922	32	2	5162	2	ATG2B	14	96798990	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	68377	96798990	10550550	3368	7836										
BCL11B	64919	broad.mit.edu	37	chr14	99697799	99697799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaggcagggcgggagagcgcCcagggcacgcagaggtgaag	21	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:99697799C>T	ENST00000357195.3	-	3	532	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Intron	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	175					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)		GGGAGAGCGCCCAGGGCACGC	0.706			T	TLX3	T-ALL																																	ENST00000357195.3				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.(523-525)Ggc>Agc		B-cell CLL/lymphoma 11B (zinc finger protein)							25	29	28					14																	99697799		2194	4300	6494	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99697799C>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.523G>A	14.37:g.99697799C>T	ENSP00000349723:p.Gly175Ser		Somatic				BCL11B_ENST00000345514.2_Intron|BCL11B_ENST00000443726.2_Intron	p.G175S	NM_138576.2	NP_612808.1	WXS	Illumina GAIIx	Phase_I	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	532	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	175					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.523G>A	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784193	0.49997	.	.	ENSG00000127152	ENST00000357195	T	0.59224	0.28	5.42	5.42	0.78866	.	0.454593	0.16809	U	0.198630	T	0.40909	0.1136	N	0.19112	0.55	0.80722	D	1	B	0.27823	0.19	B	0.23419	0.046	T	0.25676	-1.0125	10	0.25106	T	0.35	-20.3619	11.8248	0.52261	0.0:0.9199:0.0:0.0801	.	175	Q9C0K0	BC11B_HUMAN	S	175	ENSP00000349723:G175S	ENSP00000349723:G175S	G	-	1	0	BCL11B	98767552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.114000	0.50383	2.543000	0.85770	0.650000	0.86243	GGC		0.706	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		5	20	0	0	0	1	0	5	20					T	99697799	C	T	99697799	3	4	48	1	0	0	0	0	1	0	0	0	1364	623	22	3	2169	3	BCL11B	14	99697799	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2898809	99697799	7651741	3369	7837										
EML1	2009	broad.mit.edu	37	chr14	100376649	100376649	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgacaccattactggagattCaagtggcaacatcttagtat	8	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:100376649C>A	ENST00000262233.6	+	12	1449	c.1310C>A	c.(1309-1311)tCa>tAa	p.S437*	EML1_ENST00000327921.9_Nonsense_Mutation_p.S425*|EML1_ENST00000334192.4_Nonsense_Mutation_p.S456*	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	437	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				ACTGGAGATTCAAGTGGCAAC	0.343																																						ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1309-1311)tCa>tAa		echinoderm microtubule associated protein like 1							96	93	94					14																	100376649		2203	4300	6503	SO:0001587	stop_gained	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100376649C>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1310C>A	14.37:g.100376649C>A	ENSP00000262233:p.Ser437*		Somatic				EML1_ENST00000334192.4_Nonsense_Mutation_p.S456*|EML1_ENST00000327921.9_Nonsense_Mutation_p.S425*	p.S437*	NM_004434.2	NP_004425.2	WXS	Illumina GAIIx	Phase_I	O00423	EMAL1_HUMAN			12	1449	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	437					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Nonsense_Mutation	SNP	ENST00000262233.6	37	c.1310C>A	CCDS32155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	47|47	13.707621|13.707621	0.99758|0.99758	.|.	.|.	ENSG00000066629|ENSG00000066629	ENST00000554386|ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	.|.	.|.	.|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.46737|.	0.1408|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39981|.	-0.9587|.	3|.	.|0.02654	.|T	.|1	-10.6722|-10.6722	18.8337|18.8337	0.92151|0.92151	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	129|425;437;456;456	.|.	.|ENSP00000262233:S437X	F|S	+|+	3|2	2|0	EML1|EML1	99446402|99446402	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.948000|0.948000	0.59901|0.59901	7.651000|7.651000	0.83577|0.83577	2.443000|2.443000	0.82685|0.82685	0.655000|0.655000	0.94253|0.94253	TTC|TCA		0.343	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		8	32	1	0	2.74318e-10	1	3.35981e-10	8	32					A	100376649	C	A	100376649	4	1	48	1	0	0	0	0	0	1	0	0	5098	838	29	2	1417	2	EML1	14	100376649	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	678850	100376649	6972891	3370	7838										
WARS	7453	broad.mit.edu	37	chr14	100826997	100826997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aattttactacttccaaaccGaactggaaaaaaagaaaaga	5	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:100826997G>A	ENST00000355338.2	-	4	934	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	WARS_ENST00000344102.5_Missense_Mutation_p.R65W|WARS_ENST00000392882.2_Missense_Mutation_p.R106W|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000556645.1_Missense_Mutation_p.R65W|WARS_ENST00000557135.1_Missense_Mutation_p.R106W|WARS_ENST00000358655.4_Missense_Mutation_p.R65W	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	106					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTTCCAAACCGAACTGGAAAA	0.418																																						ENST00000355338.2																			0				breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(316-318)Cgg>Tgg		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)						152	141	144					14																	100826997		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100826997G>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12729	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 1, cytoplasmic"	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.316C>T	14.37:g.100826997G>A	ENSP00000347495:p.Arg106Trp		Somatic				WARS_ENST00000358655.4_Missense_Mutation_p.R65W|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000344102.5_Missense_Mutation_p.R65W|WARS_ENST00000392882.2_Missense_Mutation_p.R106W|WARS_ENST00000557135.1_Missense_Mutation_p.R106W|WARS_ENST00000556645.1_Missense_Mutation_p.R65W	p.R106W	NM_173701.1	NP_776049.1	WXS	Illumina GAIIx	Phase_I	P23381	SYWC_HUMAN			4	934	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	106					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.316C>T	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469492	0.43839	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395;ENST00000556504;ENST00000557722;ENST00000557297;ENST00000556435;ENST00000556338;ENST00000556698;ENST00000553524;ENST00000555410;ENST00000554772;ENST00000556660;ENST00000553413	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;1.67;1.57	5.46	4.57	0.56435	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.071226	0.64402	D	0.000011	T	0.75649	0.3878	M	0.88640	2.97	0.51767	D	0.99993	P	0.50819	0.939	B	0.41412	0.356	T	0.81858	-0.0739	10	0.87932	D	0	-2.1292	14.3863	0.66947	0.0715:0.0:0.9285:0.0	.	106	P23381	SYWC_HUMAN	W	106;65;106;65;106;65;65;65;106;65;65;65;106;106;140;106;106;106	ENSP00000376620:R106W;ENSP00000351481:R65W;ENSP00000347495:R106W;ENSP00000339485:R65W;ENSP00000451460:R106W;ENSP00000451887:R65W;ENSP00000451490:R65W;ENSP00000451251:R65W;ENSP00000450500:R106W;ENSP00000451599:R65W;ENSP00000452519:R65W;ENSP00000451544:R65W;ENSP00000450427:R106W;ENSP00000451349:R106W;ENSP00000450934:R140W;ENSP00000451469:R106W;ENSP00000451402:R106W;ENSP00000452550:R106W	ENSP00000339485:R65W	R	-	1	2	WARS	99896750	1.000000	0.71417	0.489000	0.27452	0.224000	0.24922	4.645000	0.61404	1.300000	0.44818	-0.150000	0.13652	CGG		0.418	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		31	36	0	0	0	1	0	31	36					A	100826997	G	A	100826997	3	1	48	1	0	0	0	0	1	0	0	0	17264	1057	37	1	1131	1	WARS	14	100826997	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	450348	100826997	6522543	3371	7839										
BEGAIN	57596	broad.mit.edu	37	chr14	101005179	101005179	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctcctccgacgtggcgctGaagctggagtaggagctgga	15	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:101005179G>T	ENST00000355173.2	-	7	980	c.909C>A	c.(907-909)ttC>ttA	p.F303L	BEGAIN_ENST00000443071.2_Missense_Mutation_p.F303L|BEGAIN_ENST00000556751.1_Missense_Mutation_p.F239L|CTD-2062F14.3_ENST00000553301.1_lincRNA	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	303						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				ACGTGGCGCTGAAGCTGGAGT	0.687																																					NSCLC(159;1889 2010 9965 27479 40101)	ENST00000556751.1																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(715-717)ttC>ttA		brain-enriched guanylate kinase-associated																																				SO:0001583	missense	57596					cytoplasm|membrane	protein binding	g.chr14:101005179G>T	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.909C>A	14.37:g.101005179G>T	ENSP00000347301:p.Phe303Leu		Somatic				BEGAIN_ENST00000443071.2_Missense_Mutation_p.F303L|BEGAIN_ENST00000355173.2_Missense_Mutation_p.F303L	p.F239L			WXS	Illumina GAIIx	Phase_I	Q9BUH8	BEGIN_HUMAN			5	4121	-		Melanoma(154;0.212)	303					Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	c.717C>A	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010919	0.75046	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071	.	.	.	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.68952	2.095	0.58432	D	0.999998	D	0.71674	0.998	D	0.76071	0.987	T	0.79130	-0.1930	9	0.49607	T	0.09	.	17.1046	0.86659	0.0:0.0:1.0:0.0	.	303	Q9BUH8	BEGIN_HUMAN	L	303;239;303	.	ENSP00000347301:F303L	F	-	3	2	BEGAIN	100074932	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.647000	0.46639	2.036000	0.60181	0.462000	0.41574	TTC		0.687	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		5	15	1	0	1.23904e-05	1	1.36503e-05	5	15					T	101005179	G	T	101005179	3	4	48	1	0	0	0	0	1	0	0	0	1397	1281	45	2	876	2	BEGAIN	14	101005179	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	178182	101005179	6344361	3372	7840										
DYNC1H1	1778	broad.mit.edu	37	chr14	102502923	102502923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaccagcttcctggatgacGccttcagaaagaacttagag	11	10	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:102502923G>A	ENST00000360184.4	+	57	11016	c.10852G>A	c.(10852-10854)Gcc>Acc	p.A3618T	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3618	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)			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						CCTGGATGACGCCTTCAGAAA	0.468																																						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.(10852-10854)Gcc>Acc		dynein, cytoplasmic 1, heavy chain 1							150	130	136					14																	102502923		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.chr14:102502923G>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.10852G>A	14.37:g.102502923G>A	ENSP00000348965:p.Ala3618Thr		Somatic				RP11-1017G21.4_ENST00000557551.1_RNA|DYNC1H1_ENST00000556791.1_3'UTR	p.A3618T	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			57	11016	+			3618			AAA 5 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.10852G>A	CCDS9966.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.292971|4.292971	0.80914|0.80914	.|.	.|.	ENSG00000197102|ENSG00000197102	ENST00000360184|ENST00000553423	T|.	0.22945|.	1.93|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.052506|.	0.85682|.	D|.	0.000000|.	T|T	0.67748|0.67748	0.2926|0.2926	L|L	0.39245|0.39245	1.2|1.2	0.80722|0.80722	D|D	1|1	P|.	0.51653|.	0.947|.	P|.	0.44561|.	0.453|.	T|T	0.61163|0.61163	-0.7118|-0.7118	10|5	0.42905|.	T|.	0.14|.	.|.	20.1184|20.1184	0.97949|0.97949	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3618|.	Q14204|.	DYHC1_HUMAN|.	T|H	3618|93	ENSP00000348965:A3618T|.	ENSP00000348965:A3618T|.	A|R	+|+	1|2	0|0	DYNC1H1|DYNC1H1	101572676|101572676	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.976000|0.976000	0.68499|0.68499	7.928000|7.928000	0.87587|0.87587	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.468	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		8	119	0	0	0	1	0	8	119					A	102502923	G	A	102502923	3	1	48	1	0	0	0	0	1	0	0	0	4843	1087	38	1	11078	1	DYNC1H1	14	102502923	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1497744	102502923	4846617	3373	7841										
RAGE	5891	broad.mit.edu	37	chr14	102729915	102729915	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cataaatattcatgtccataAgttcacatattagtgcaaga	5	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:102729915A>C	ENST00000361847.2	-	4	482	c.251T>G	c.(250-252)cTt>cGt	p.L84R	MOK_ENST00000522874.1_Missense_Mutation_p.L84R|MOK_ENST00000524214.1_Missense_Mutation_p.L54R|MOK_ENST00000193029.6_5'UTR	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	84	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	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)										CATGTCCATAAGTTCACATAT	0.303																																						ENST00000361847.2																			0											c.(250-252)cTt>cGt		MOK protein kinase							96	96	96					14																	102729915		2203	4298	6501	SO:0001583	missense	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102729915A>C	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.251T>G	14.37:g.102729915A>C	ENSP00000355304:p.Leu84Arg		Somatic				MOK_ENST00000524214.1_Missense_Mutation_p.L54R|MOK_ENST00000522874.1_Missense_Mutation_p.L84R|MOK_ENST00000193029.6_5'UTR	p.L84R	NM_014226.1	NP_055041.1	WXS	Illumina GAIIx	Phase_I	Q9UQ07	MOK_HUMAN			4	482	-			84			Protein kinase.		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	c.251T>G	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.324456	0.81580	.	.	ENSG00000080823	ENST00000522874;ENST00000361847;ENST00000524214	T;T;T	0.68624	-0.34;-0.34;-0.34	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);	0.076955	0.53938	D	0.000051	T	0.79581	0.4470	M	0.62088	1.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81385	-0.0957	10	0.72032	D	0.01	-13.1522	14.3848	0.66938	1.0:0.0:0.0:0.0	.	54;84	E7ERR8;Q9UQ07	.;MOK_HUMAN	R	84;84;54	ENSP00000429469:L84R;ENSP00000355304:L84R;ENSP00000428942:L54R	ENSP00000355304:L84R	L	-	2	0	RAGE	101799668	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.256000	0.78350	2.209000	0.71365	0.533000	0.62120	CTT		0.303	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			8	18	0	0	0	1	0	8	18					C	102729915	A	C	102729915	3	2	48	1	0	0	0	0	1	0	0	0	13021	72	3	4	1044	4	RAGE	14	102729915	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	226992	102729915	4619625	3374	7842										
CDC42BPB	9578	broad.mit.edu	37	chr14	103406031	103406031	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggttgggttggatatcatTttggatctcaattctgggtc	12	5	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:103406031T>G	ENST00000361246.2	-	34	5031	c.4743A>C	c.(4741-4743)aaA>aaC	p.K1581N	RP11-365N19.2_ENST00000560931.1_RNA	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)		TGGATATCATTTTGGATCTCA	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.(4741-4743)aaA>aaC		CDC42 binding protein kinase beta (DMPK-like)							228	224	226					14																	103406031		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.chr14:103406031T>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.4743A>C	14.37:g.103406031T>G	ENSP00000355237:p.Lys1581Asn		Somatic					p.K1581N	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)	34	5031	-		Melanoma(154;0.155)	1581						Missense_Mutation	SNP	ENST00000361246.2	37	c.4743A>C	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.292765	0.80914	.	.	ENSG00000198752	ENST00000361246	T	0.68624	-0.34	4.53	-7.02	0.01589	.	0.157167	0.56097	D	0.000028	T	0.62183	0.2407	M	0.79805	2.47	0.54753	D	0.999985	P	0.39903	0.694	B	0.36092	0.217	T	0.66736	-0.5848	10	0.66056	D	0.02	.	16.7642	0.85520	0.0:0.6935:0.0:0.3065	.	1581	Q9Y5S2	MRCKB_HUMAN	N	1581	ENSP00000355237:K1581N	ENSP00000355237:K1581N	K	-	3	2	CDC42BPB	102475784	0.974000	0.33945	0.892000	0.35008	0.994000	0.84299	0.185000	0.16958	-1.391000	0.02085	-0.290000	0.09829	AAA		0.557	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		16	166	0	0	0	1	0	16	166					G	103406031	T	G	103406031	3	3	48	1	0	0	0	0	1	0	0	0	3075	1838	64	4	408	4	CDC42BPB	14	103406031	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	676116	103406031	3943509	3375	7843										
EIF5	1983	broad.mit.edu	37	chr14	103803151	103803151	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gattcattaaaaaatttgttCtctgtcctgaatgtgagaat	7	5	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:103803151C>A	ENST00000216554.3	+	5	968	c.292C>A	c.(292-294)Ctc>Atc	p.L98I	EIF5_ENST00000392715.2_Missense_Mutation_p.L98I|EIF5_ENST00000558506.1_Missense_Mutation_p.L98I|SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000560200.1_3'UTR	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	98					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)			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)			AAAATTTGTTCTCTGTCCTGA	0.393																																						ENST00000216554.3																			0				breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(292-294)Ctc>Atc		eukaryotic translation initiation factor 5							116	107	110					14																	103803151		2203	4300	6503	SO:0001583	missense	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103803151C>A	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.292C>A	14.37:g.103803151C>A	ENSP00000216554:p.Leu98Ile		Somatic				EIF5_ENST00000558506.1_Missense_Mutation_p.L98I|EIF5_ENST00000392715.2_Missense_Mutation_p.L98I|EIF5_ENST00000560200.1_3'UTR	p.L98I	NM_001969.4	NP_001960.2	WXS	Illumina GAIIx	Phase_I	P55010	IF5_HUMAN	Epithelial(46;0.182)		5	968	+		Melanoma(154;0.155)	98					Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	ENST00000216554.3	37	c.292C>A	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	23.1	4.377242	0.82682	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	T;T	0.46819	0.86;0.86	5.48	5.48	0.80851	Translation initiation factor IF2/IF5, N-terminal (1);Translation initiation factor IF2/IF5, zinc-binding (1);Translation initiation factor IF2/IF5 (2);	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.76727	2.345	0.80722	D	1	B	0.06786	0.001	B	0.27170	0.077	T	0.57004	-0.7885	10	0.87932	D	0	-0.7901	19.3574	0.94420	0.0:1.0:0.0:0.0	.	98	P55010	IF5_HUMAN	I	98	ENSP00000216554:L98I;ENSP00000376477:L98I	ENSP00000216554:L98I	L	+	1	0	EIF5	102872904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.767000	0.85331	2.582000	0.87167	0.555000	0.69702	CTC		0.393	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		19	40	1	0	1.56452e-12	1	1.97515e-12	19	40					A	103803151	C	A	103803151	3	1	48	1	0	0	0	0	1	0	0	0	5042	913	32	2	302	2	EIF5	14	103803151	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	397120	103803151	3546389	3376	7844										
KLC1	3831	broad.mit.edu	37	chr14	104143808	104143808	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actttacagacgtcaaggcaAatttgaagctgcagaaacgt	9	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:104143808A>C	ENST00000348520.6	+	12	1755	c.1436A>C	c.(1435-1437)aAa>aCa	p.K479T	KLC1_ENST00000389744.4_Missense_Mutation_p.K479T|KLC1_ENST00000553286.1_Missense_Mutation_p.K479T|KLC1_ENST00000445352.4_Missense_Mutation_p.K477T|KLC1_ENST00000246489.7_Missense_Mutation_p.K479T|KLC1_ENST00000557575.1_Missense_Mutation_p.K479T|KLC1_ENST00000554280.1_Missense_Mutation_p.K479T|KLC1_ENST00000557450.1_Missense_Mutation_p.K479T|KLC1_ENST00000347839.6_Missense_Mutation_p.K479T|KLC1_ENST00000380038.3_Missense_Mutation_p.K479T|KLC1_ENST00000334553.6_Missense_Mutation_p.K479T|KLC1_ENST00000555836.1_Missense_Mutation_p.K479T|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.K651T|KLC1_ENST00000452929.2_Missense_Mutation_p.K479T	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	479					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)		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)				CGTCAAGGCAAATTTGAAGCT	0.418																																						ENST00000389744.4																		KLC1/ALK(2)	0				NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12						c.(1435-1437)aAa>aCa		kinesin light chain 1							145	141	142					14																	104143808		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.chr14:104143808A>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.1436A>C	14.37:g.104143808A>C	ENSP00000341154:p.Lys479Thr		Somatic				KLC1_ENST00000347839.6_Missense_Mutation_p.K479T|KLC1_ENST00000445352.4_Missense_Mutation_p.K477T|KLC1_ENST00000557575.1_Missense_Mutation_p.K479T|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.K651T|KLC1_ENST00000380038.3_Missense_Mutation_p.K479T|KLC1_ENST00000555836.1_Missense_Mutation_p.K479T|KLC1_ENST00000557450.1_Missense_Mutation_p.K479T|KLC1_ENST00000246489.7_Missense_Mutation_p.K479T|KLC1_ENST00000348520.6_Missense_Mutation_p.K479T|KLC1_ENST00000452929.2_Missense_Mutation_p.K479T|KLC1_ENST00000554280.1_Missense_Mutation_p.K479T|KLC1_ENST00000553286.1_Missense_Mutation_p.K479T|KLC1_ENST00000334553.6_Missense_Mutation_p.K479T	p.K479T			WXS	Illumina GAIIx	Phase_I	Q07866	KLC1_HUMAN			12	1705	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	479					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.1436A>C	CCDS41996.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	29.5|29.5|29.5	5.009087|5.009087|5.009087	0.93346|0.93346|0.93346	.|.|.	.|.|.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500|ENSG00000126214|ENSG00000126214	ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726|ENST00000553325;ENST00000553436;ENST00000555856|ENST00000537046	T;T;T;T;T;T;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;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16|.|.	5.52|5.52|5.52	5.52|5.52|5.52	0.82312|0.82312|0.82312	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.|.	0.042909|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.77301|0.77301|0.77301	0.4110|0.4110|0.4110	M|M|M	0.81497|0.81497|0.81497	2.545|2.545|2.545	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D|.|.	0.89917|.|.	0.999;0.977;0.998;0.992;1.0|.|.	D;P;D;D;D|.|.	0.83275|.|.	0.996;0.873;0.991;0.986;0.994|.|.	T|T|T	0.78976|0.78976|0.78976	-0.1991|-0.1991|-0.1991	10|5|5	0.72032|.|.	D|.|.	0.01|.|.	-16.6531|-16.6531|-16.6531	15.9355|15.9355|15.9355	0.79704|0.79704|0.79704	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	479;479;651;479;477|.|.	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8|.|.	.;.;.;KLC1_HUMAN;.|.|.	T|H|H	479;479;479;479;479;479;479;479;479;479;479;479;479;477;651|59;55;53|84	ENSP00000341154:K479T;ENSP00000369377:K479T;ENSP00000374394:K479T;ENSP00000450617:K479T;ENSP00000452487:K479T;ENSP00000334618:K479T;ENSP00000452481:K479T;ENSP00000334523:K479T;ENSP00000246489:K479T;ENSP00000450648:K479T;ENSP00000451242:K479T;ENSP00000414982:K479T;ENSP00000412693:K477T;ENSP00000439065:K651T|.|.	ENSP00000246489:K479T|.|.	K|N|Q	+|+|+	2|1|3	0|0|2	KLC1;RP11-73M18.2|KLC1|KLC1	103213561|103213561|103213561	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.972000|0.972000|0.972000	0.66771|0.66771|0.66771	9.287000|9.287000|9.287000	0.95975|0.95975|0.95975	2.234000|2.234000|2.234000	0.73211|0.73211|0.73211	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	AAA|AAT|CAA		0.418	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		45	52	0	0	0	1	0	45	52					C	104143808	A	C	104143808	3	2	48	1	0	0	0	0	1	0	0	0	8342	14	1	4	1478	4	KLC1	14	104143808	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	340657	104143808	3205732	3377	7845										
AHNAK2	113146	broad.mit.edu	37	chr14	105406167	105406167	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccagctttccagccccgccTctgtccctgaaagagcgcct	8	18	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105406167T>C	ENST00000333244.5	-	7	15740	c.15621A>G	c.(15619-15621)agA>agG	p.R5207R	AHNAK2_ENST00000557457.1_Silent_p.R205R	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5207						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)			CAGCCCCGCCTCTGTCCCTGA	0.552																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(15619-15621)agA>agG		AHNAK nucleoprotein 2							210	227	222					14																	105406167		1965	4137	6102	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105406167T>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15621A>G	14.37:g.105406167T>C			Somatic				AHNAK2_ENST00000557457.1_Silent_p.R205R	p.R5207R	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	15740	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5207					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.15621A>G	CCDS45177.1																																																																																				0.552	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		140	150	0	0	0	1	0	140	150					C	105406167	T	C	105406167	2	2	48	1	0	0	0	0	0	0	0	1	415	1548	54	4		4	AHNAK2	14	105406167	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1262359	105406167	1943373	3378	7846										
AHNAK2	113146	broad.mit.edu	37	chr14	105407539	105407539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggatggctctgaacaagccGaaacctgttgtaattcaaaa	9	8	2	1	rs200690287	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105407539G>A	ENST00000333244.5	-	7	14368	c.14249C>T	c.(14248-14250)tCg>tTg	p.S4750L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4750						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.S4750L(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)			TGAACAAGCCGAAACCTGTTG	0.438													G|||	2	0.000399361	0.0015	0	5008	,	,		20402	0		0	False		,,,				2504	0					ENST00000333244.5																			1	Substitution - Missense(1)	p.S4750L(1)	kidney(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(14248-14250)tCg>tTg		AHNAK nucleoprotein 2		G	LEU/SER	4,3778		0,4,1887	65	72	70		14249	-5.7	0	14		70	0,8232		0,0,4116	yes	missense	AHNAK2	NM_138420.2	145	0,4,6003	AA,AG,GG		0.0,0.1058,0.0333	benign	4750/5796	105407539	4,12010	1891	4116	6007	SO:0001583	missense	113146					nucleus		g.chr14:105407539G>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.14249C>T	14.37:g.105407539G>A	ENSP00000353114:p.Ser4750Leu		Somatic				AHNAK2_ENST00000557457.1_Intron	p.S4750L	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	14368	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4750					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.14249C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852046	0.32699	0.001058	0.0	ENSG00000185567	ENST00000333244	T	0.08370	3.1	2.85	-5.7	0.02421	.	.	.	.	.	T	0.05044	0.0135	L	0.34521	1.04	0.09310	N	1	B	0.17038	0.02	B	0.08055	0.003	T	0.38178	-0.9673	9	0.25751	T	0.34	.	5.5078	0.16864	0.4574:0.2239:0.3187:0.0	.	4750	Q8IVF2	AHNK2_HUMAN	L	4750	ENSP00000353114:S4750L	ENSP00000353114:S4750L	S	-	2	0	AHNAK2	104478584	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.992000	0.01476	-1.902000	0.01094	0.196000	0.17591	TCG		0.438	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		20	55	0	0	0	1	0	20	55					A	105407539	G	A	105407539	3	1	48	1	0	0	0	0	1	0	0	0	415	1059	37	1	3142	1	AHNAK2	14	105407539	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1372	105407539	1942001	3379	7847										
AHNAK2	113146	broad.mit.edu	37	chr14	105411964	105411964	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggggcctcgacgtccaccTccatgctgggctgagacacc	12	16	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105411964T>C	ENST00000333244.5	-	7	9943	c.9824A>G	c.(9823-9825)gAg>gGg	p.E3275G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3275						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)			GACGTCCACCTCCATGCTGGG	0.627																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(9823-9825)gAg>gGg		AHNAK nucleoprotein 2							108	77	87					14																	105411964		1910	4067	5977	SO:0001583	missense	113146					nucleus		g.chr14:105411964T>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9824A>G	14.37:g.105411964T>C	ENSP00000353114:p.Glu3275Gly		Somatic				AHNAK2_ENST00000557457.1_Intron	p.E3275G	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	9943	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3275					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.9824A>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	12.12	1.842651	0.32606	.	.	ENSG00000185567	ENST00000333244	T	0.01887	4.58	3.87	2.63	0.31362	.	.	.	.	.	T	0.10766	0.0263	M	0.80982	2.52	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.07635	-1.0762	9	0.34782	T	0.22	.	9.783	0.40660	0.0:0.0:0.3231:0.6769	.	3275	Q8IVF2	AHNK2_HUMAN	G	3275	ENSP00000353114:E3275G	ENSP00000353114:E3275G	E	-	2	0	AHNAK2	104483009	0.000000	0.05858	0.132000	0.22025	0.001000	0.01503	0.655000	0.24933	1.417000	0.47077	0.397000	0.26171	GAG		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		98	176	0	0	0	1	0	98	176					C	105411964	T	C	105411964	3	2	48	1	0	0	0	0	1	0	0	0	415	1551	54	4	7567	4	AHNAK2	14	105411964	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	4425	105411964	1937576	3380	7848										
AHNAK2	113146	broad.mit.edu	37	chr14	105413705	105413705	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggggggctgaatgctgatgtCagtggtcttaaggtcccctt	15	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105413705C>T	ENST00000333244.5	-	7	8202	c.8083G>A	c.(8083-8085)Gac>Aac	p.D2695N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2695						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)			ATGCTGATGTCAGTGGTCTTA	0.627																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8083-8085)Gac>Aac		AHNAK nucleoprotein 2							155	169	165					14																	105413705		2004	4178	6182	SO:0001583	missense	113146					nucleus		g.chr14:105413705C>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.8083G>A	14.37:g.105413705C>T	ENSP00000353114:p.Asp2695Asn		Somatic				AHNAK2_ENST00000557457.1_Intron	p.D2695N	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	8202	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2695					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8083G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	14.30	2.494624	0.44352	.	.	ENSG00000185567	ENST00000333244	T	0.00912	5.55	3.28	0.051	0.14296	.	.	.	.	.	T	0.02230	0.0069	M	0.81341	2.54	0.09310	N	1	D	0.56035	0.974	P	0.47402	0.546	T	0.41052	-0.9530	9	0.28530	T	0.3	-11.3193	9.8054	0.40791	0.1484:0.2675:0.5841:0.0	.	2695	Q8IVF2	AHNK2_HUMAN	N	2695	ENSP00000353114:D2695N	ENSP00000353114:D2695N	D	-	1	0	AHNAK2	104484750	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.967000	0.29344	-0.447000	0.07138	-0.676000	0.03789	GAC		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		12	281	0	0	0	1	0	12	281					T	105413705	C	T	105413705	3	4	48	1	0	0	0	0	1	0	0	0	415	826	29	3	9308	3	AHNAK2	14	105413705	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1741	105413705	1935835	3381	7849										
GPR132	29933	broad.mit.edu	37	chr14	105517481	105517481	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcctggtgacgtctgtcttCatggaccactctttccaccc	8	15	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105517481C>A	ENST00000329797.3	-	4	1904	c.993G>T	c.(991-993)atG>atT	p.M331I	GPR132_ENST00000392585.2_Missense_Mutation_p.M322I|GPR132_ENST00000539291.2_Missense_Mutation_p.M331I|GPR132_ENST00000546679.1_5'Flank	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	331					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)		CGTCTGTCTTCATGGACCACT	0.612																																						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.(991-993)atG>atT		G protein-coupled receptor 132							201	159	173					14																	105517481		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105517481C>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.993G>T	14.37:g.105517481C>A	ENSP00000328818:p.Met331Ile		Somatic				GPR132_ENST00000392585.2_Missense_Mutation_p.M322I|GPR132_ENST00000539291.2_Missense_Mutation_p.M331I	p.M331I	NM_013345.2	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	1904	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	331					A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.993G>T	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.793102	0.31685	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.36340	1.26;1.26;1.26	4.27	-8.55	0.00908	.	1.342170	0.05122	N	0.490893	T	0.18341	0.0440	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	0.20207	-1.0282	10	0.29301	T	0.29	.	9.8468	0.41032	0.0:0.1366:0.2854:0.578	.	322;331	B4E144;Q9UNW8	.;GP132_HUMAN	I	331;322;331	ENSP00000328818:M331I;ENSP00000376364:M322I;ENSP00000438094:M331I	ENSP00000328818:M331I	M	-	3	0	GPR132	104588526	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.420000	0.00477	-1.756000	0.01318	0.467000	0.42956	ATG		0.612	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		23	37	1	0	6.21321e-17	1	8.30052e-17	23	37					A	105517481	C	A	105517481	3	1	48	1	0	0	0	0	1	0	0	0	6650	826	29	2	153	2	GPR132	14	105517481	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	103776	105517481	1832059	3382	7850										
PACS2	23241	broad.mit.edu	37	chr14	105857575	105857575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggaattgtggagccatcctCggccacatcaggtaaccccg	11	13	1	0	rs368898941		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105857575C>T	ENST00000325438.8	+	20	2567	c.2063C>T	c.(2062-2064)tCg>tTg	p.S688L	PACS2_ENST00000447393.1_Missense_Mutation_p.S692L|PACS2_ENST00000551743.1_Missense_Mutation_p.S202L|PACS2_ENST00000430725.2_Missense_Mutation_p.S613L|PACS2_ENST00000551801.1_5'Flank|PACS2_ENST00000547217.1_Missense_Mutation_p.S658L|PACS2_ENST00000458164.2_Missense_Mutation_p.S703L			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	688					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)		GAGCCATCCTCGGCCACATCA	0.602																																						ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(2074-2076)tCg>tTg		phosphofurin acidic cluster sorting protein 2		C	LEU/SER,LEU/SER	0,4406		0,0,2203	146	118	127		2063,2075	4.3	0.6	14		127	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PACS2	NM_015197.3,NM_001100913.2	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	688/890,692/894	105857575	1,13005	2203	4300	6503	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105857575C>T	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.2063C>T	14.37:g.105857575C>T	ENSP00000321834:p.Ser688Leu		Somatic				PACS2_ENST00000430725.2_Missense_Mutation_p.S613L|PACS2_ENST00000458164.2_Missense_Mutation_p.S703L|PACS2_ENST00000551743.1_Missense_Mutation_p.S202L|PACS2_ENST00000547217.1_Missense_Mutation_p.S658L|PACS2_ENST00000325438.8_Missense_Mutation_p.S688L	p.S692L	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)	20	2250	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	688					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.2075C>T	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	C	8.209	0.799930	0.16397	0.0	1.16E-4	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	4.35	4.35	0.52113	.	0.073983	0.56097	D	0.000028	T	0.29223	0.0727	N	0.25144	0.715	0.38780	D	0.954741	B;B;B;B	0.19331	0.006;0.005;0.027;0.035	B;B;B;B	0.17433	0.011;0.003;0.018;0.009	T	0.12142	-1.0559	10	0.16896	T	0.51	-10.7486	15.4427	0.75200	0.0:1.0:0.0:0.0	.	692;703;688;689	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	L	613;688;703;692;658;202	ENSP00000393524:S613L;ENSP00000321834:S688L;ENSP00000399732:S703L;ENSP00000393559:S692L;ENSP00000449525:S658L;ENSP00000449254:S202L	ENSP00000321834:S688L	S	+	2	0	PACS2	104928620	0.930000	0.31532	0.582000	0.28627	0.544000	0.35116	2.876000	0.48498	1.967000	0.57214	0.561000	0.74099	TCG		0.602	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		21	44	0	0	0	1	0	21	44					T	105857575	C	T	105857575	3	4	48	1	0	0	0	0	1	0	0	0	11382	893	31	1	2153	1	PACS2	14	105857575	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	340094	105857575	1491965	3383	7851										
PACS2	23241	broad.mit.edu	37	chr14	105860899	105860899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctctcccacagtcctcatcGacggcgtggagtgcagcgac	11	16	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105860899G>A	ENST00000325438.8	+	24	3064	c.2560G>A	c.(2560-2562)Gac>Aac	p.D854N	PACS2_ENST00000447393.1_Missense_Mutation_p.D858N|PACS2_ENST00000551743.1_Missense_Mutation_p.D368N|PACS2_ENST00000430725.2_Missense_Mutation_p.D779N|PACS2_ENST00000551801.1_Missense_Mutation_p.D55N|PACS2_ENST00000547217.1_Missense_Mutation_p.D824N|PACS2_ENST00000458164.2_Missense_Mutation_p.D869N			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	854					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)		AGTCCTCATCGACGGCGTGGA	0.677																																						ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(2572-2574)Gac>Aac		phosphofurin acidic cluster sorting protein 2							112	82	92					14																	105860899		2203	4299	6502	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105860899G>A	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.2560G>A	14.37:g.105860899G>A	ENSP00000321834:p.Asp854Asn		Somatic				PACS2_ENST00000430725.2_Missense_Mutation_p.D779N|PACS2_ENST00000458164.2_Missense_Mutation_p.D869N|PACS2_ENST00000551743.1_Missense_Mutation_p.D368N|PACS2_ENST00000551801.1_Missense_Mutation_p.D55N|PACS2_ENST00000547217.1_Missense_Mutation_p.D824N|PACS2_ENST00000325438.8_Missense_Mutation_p.D854N	p.D858N	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)	24	2747	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	854					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.2572G>A	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095453	0.94197	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743;ENST00000551801	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	4.43	4.43	0.53597	.	0.125201	0.51477	D	0.000094	T	0.81527	0.4841	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.97110	0.995;1.0;0.966;0.978	D	0.85693	0.1308	10	0.87932	D	0	-25.727	15.9686	0.79995	0.0:0.0:1.0:0.0	.	858;869;854;855	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	N	779;854;869;858;824;368;55	ENSP00000393524:D779N;ENSP00000321834:D854N;ENSP00000399732:D869N;ENSP00000393559:D858N;ENSP00000449525:D824N;ENSP00000449254:D368N;ENSP00000447544:D55N	ENSP00000321834:D854N	D	+	1	0	PACS2	104931944	1.000000	0.71417	0.996000	0.52242	0.823000	0.46562	9.668000	0.98619	2.180000	0.69256	0.655000	0.94253	GAC		0.677	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		25	59	0	0	0	1	0	25	59					A	105860899	G	A	105860899	3	1	48	1	0	0	0	0	1	0	0	0	11382	1058	37	1	2666	1	PACS2	14	105860899	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3324	105860899	1488641	3384	7852										
OR4M2	390538	broad.mit.edu	37	chr15	22368874	22368874	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttgatggatgcattgcacAgctcttcttcttacactttg	7	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:22368874A>G	ENST00000332663.2	+	1	397	c.299A>G	c.(298-300)cAg>cGg	p.Q100R	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q100L(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)		TGCATTGCACAGCTCTTCTTC	0.463																																						ENST00000332663.2																			1	Substitution - Missense(1)	p.Q100L(1)	lung(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.(298-300)cAg>cGg		olfactory receptor, family 4, subfamily M, member 2							313	262	279					15																	22368874		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368874A>G	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.299A>G	15.37:g.22368874A>G	ENSP00000329467:p.Gln100Arg		Somatic				RP11-69H14.6_ENST00000558896.1_RNA	p.Q100R	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	397	+		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)	100					B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.299A>G	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	14.15	2.449975	0.43531	.	.	ENSG00000182974	ENST00000332663	T	0.00469	7.21	2.5	1.26	0.21427	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	D	0.000443	T	0.02767	0.0083	H	0.99689	4.705	0.22701	N	0.998834	D	0.89917	1.0	D	0.87578	0.998	T	0.33701	-0.9858	10	0.87932	D	0	-6.6643	6.688	0.23156	0.7573:0.2427:0.0:0.0	.	100	Q8NGB6	OR4M2_HUMAN	R	100	ENSP00000329467:Q100R	ENSP00000329467:Q100R	Q	+	2	0	OR4M2	19870238	1.000000	0.71417	0.994000	0.49952	0.814000	0.46013	5.841000	0.69409	0.183000	0.20059	0.368000	0.22195	CAG		0.463	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			7	368	0	0	0	1	0	7	368					G	22368874	A	G	22368874	3	3	48	1	0	0	0	0	1	0	0	0	11085	188	7	4	301	4	OR4M2	15	22368874	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08		22368874	80162518	3385	7853										
OR4N4	283694	broad.mit.edu	37	chr15	22382507	22382507	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caacacagtagtgacagaatTtatcctccttggtctgactc	7	11	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:22382507T>G	ENST00000328795.4	+	1	126	c.35T>G	c.(34-36)tTt>tGt	p.F12C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTGACAGAATTTATCCTCCTT	0.348																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(34-36)tTt>tGt		olfactory receptor, family 4, subfamily N, member 4							160	152	155					15																	22382507		2188	4263	6451	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382507T>G	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.35T>G	15.37:g.22382507T>G	ENSP00000332500:p.Phe12Cys		Somatic				RP11-69H14.6_ENST00000558896.1_RNA	p.F12C	NM_001005241.2	NP_001005241.2	WXS	Illumina GAIIx	Phase_I	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	126	+		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)	12					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.35T>G	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	10.11	1.260192	0.23051	.	.	ENSG00000183706	ENST00000328795	T	0.04603	3.59	3.24	3.24	0.37175	.	0.000000	0.50627	D	0.000119	T	0.29716	0.0742	H	0.96970	3.915	0.30621	N	0.75845	D	0.89917	1.0	D	0.75484	0.986	T	0.47433	-0.9118	10	0.87932	D	0	-21.1954	9.793	0.40717	0.0:0.0:0.0:1.0	.	12	Q8N0Y3	OR4N4_HUMAN	C	12	ENSP00000332500:F12C	ENSP00000332500:F12C	F	+	2	0	OR4N4	19883871	0.996000	0.38824	0.996000	0.52242	0.135000	0.20990	3.865000	0.56033	1.465000	0.48006	0.164000	0.16699	TTT		0.348	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			20	252	0	0	0	1	0	20	252					G	22382507	T	G	22382507	3	3	48	1	0	0	0	0	1	0	0	0	11087	1841	64	4	37	4	OR4N4	15	22382507	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	13633	22382507	80148885	3386	7854										
OR4N4	283694	broad.mit.edu	37	chr15	22383340	22383340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcctatgatttatacccttCgcaaccaggaagtgaaaact	6	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:22383340C>T	ENST00000328795.4	+	1	959	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	290						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)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTATACCCTTCGCAACCAGGA	0.413																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(868-870)Cgc>Tgc		olfactory receptor, family 4, subfamily N, member 4							99	92	95					15																	22383340		2188	4257	6445	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383340C>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.868C>T	15.37:g.22383340C>T	ENSP00000332500:p.Arg290Cys		Somatic				RP11-69H14.6_ENST00000558896.1_RNA	p.R290C	NM_001005241.2	NP_001005241.2	WXS	Illumina GAIIx	Phase_I	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	959	+		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)	290					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.868C>T	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	4.881	0.163693	0.09287	.	.	ENSG00000183706	ENST00000328795	T	0.40476	1.03	3.2	-0.203	0.13204	.	0.000000	0.39341	N	0.001393	T	0.34687	0.0906	M	0.82517	2.595	0.31758	N	0.633697	P	0.35684	0.515	B	0.27715	0.082	T	0.41233	-0.9520	10	0.87932	D	0	-0.1547	2.9531	0.05868	0.3045:0.4485:0.0:0.247	.	290	Q8N0Y3	OR4N4_HUMAN	C	290	ENSP00000332500:R290C	ENSP00000332500:R290C	R	+	1	0	OR4N4	19884704	0.014000	0.17966	0.992000	0.48379	0.187000	0.23431	0.551000	0.23361	0.193000	0.20303	-0.521000	0.04368	CGC		0.413	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			15	123	0	0	0	1	0	15	123					T	22383340	C	T	22383340	3	4	48	1	0	0	0	0	1	0	0	0	11087	884	31	1	870	1	OR4N4	15	22383340	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	833	22383340	80148052	3387	7855										
CYFIP1	23191	broad.mit.edu	37	chr15	22933766	22933766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtctctgcagcagcagctcGaagtgatttctggctacgaa	11	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:22933766G>A	ENST00000313077.7	+	8	810	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	CYFIP1_ENST00000560848.1_Missense_Mutation_p.E229K	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)		GCAGCAGCTCGAAGTGATTTC	0.532																																						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.(685-687)Gaa>Aaa		cytoplasmic FMR1 interacting protein 1							116	118	117					15																	22933766		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.chr15:22933766G>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.685G>A	15.37:g.22933766G>A	ENSP00000324549:p.Glu229Lys		Somatic				CYFIP1_ENST00000560848.1_Missense_Mutation_p.E229K	p.E229K	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)	8	810	+		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)	229						Missense_Mutation	SNP	ENST00000313077.7	37	c.685G>A	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901709	0.52227	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.44881	0.91	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	L	0.32530	0.975	0.80722	D	1	D;P	0.69078	0.997;0.894	D;B	0.68039	0.955;0.154	T	0.27806	-1.0063	10	0.07813	T	0.8	-24.6786	19.7269	0.96168	0.0:0.0:1.0:0.0	.	257;229	E7EQ04;Q7L576	.;CYFP1_HUMAN	K	229;257	ENSP00000324549:E229K	ENSP00000324549:E229K	E	+	1	0	CYFIP1	20485207	1.000000	0.71417	0.976000	0.42696	0.205000	0.24178	9.705000	0.98719	2.675000	0.91044	0.555000	0.69702	GAA		0.532	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		53	93	0	0	0	1	0	53	93					A	22933766	G	A	22933766	3	1	48	1	0	0	0	0	1	0	0	0	4139	1059	37	1	711	1	CYFIP1	15	22933766	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	550426	22933766	79597626	3388	7856										
MAGEL2	54551	broad.mit.edu	37	chr15	23889613	23889613	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attccctgtatggtagcccaGcttgttgatgataatatagg	10	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:23889613G>T	ENST00000532292.1	-	1	1562	c.1468C>A	c.(1468-1470)Ctg>Atg	p.L490M		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	373	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				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)		TGGTAGCCCAGCTTGTTGATG	0.428																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1468-1470)Ctg>Atg		MAGE-like 2							98	91	93					15																	23889613		1896	4123	6019	SO:0001583	missense	54551							g.chr15:23889613G>T	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.1468C>A	15.37:g.23889613G>T	ENSP00000433433:p.Leu490Met		Somatic					p.L490M	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	1562	-		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.1468C>A		.	.	.	.	.	.	.	.	.	.	G	7.411	0.634733	0.14322	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.43	-0.723	0.11181	.	.	.	.	.	T	0.42698	0.1214	M	0.72479	2.2	0.09310	N	0.999999	.	.	.	.	.	.	T	0.41431	-0.9509	5	.	.	.	.	3.0972	0.06313	0.3455:0.0:0.4056:0.2489	.	.	.	.	R	521	.	.	S	-	3	2	MAGEL2	21440706	0.172000	0.23043	0.265000	0.24526	0.063000	0.16089	0.243000	0.18106	0.027000	0.15297	0.467000	0.42956	AGC		0.428	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		12	25	1	0	3.07112e-06	1	3.42433e-06	12	25					T	23889613	G	T	23889613	3	4	48	1	0	0	0	0	1	0	0	0	9198	962	34	5	476	5	MAGEL2	15	23889613	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	955847	23889613	78641779	3389	7857										
C15orf2	23742	broad.mit.edu	37	chr15	24922007	24922007	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccctgcaaaaggaaaatgtcGattccattgctgctgccgct	9	12	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:24922007G>A	ENST00000329468.2	+	1	1467	c.993G>A	c.(991-993)tcG>tcA	p.S331S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	331	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GGAAAATGTCGATTCCATTGC	0.587																																						ENST00000329468.2																			0											c.(991-993)tcG>tcA		nuclear pore associated protein 1							52	50	51					15																	24922007		2203	4300	6503	SO:0001819	synonymous_variant	23742							g.chr15:24922007G>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.993G>A	15.37:g.24922007G>A			Somatic					p.S331S	NM_018958.2	NP_061831.2	WXS	Illumina GAIIx	Phase_I					1	1467	+									Silent	SNP	ENST00000329468.2	37	c.993G>A	CCDS10015.1																																																																																				0.587	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		27	51	0	0	0	1	0	27	51					A	24922007	G	A	24922007	2	1	48	1	0	0	0	0	0	0	0	1	1786	1045	37	1		1	C15orf2	15	24922007	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1032394	24922007	77609385	3390	7858										
UBE3A	7337	broad.mit.edu	37	chr15	25615832	25615832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttcgttcactgtacatgcGaattctattgtcataatata	5	8	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:25615832G>A	ENST00000397954.2	-	4	1497	c.1498C>T	c.(1498-1500)Cgc>Tgc	p.R500C	UBE3A_ENST00000232165.3_Missense_Mutation_p.R497C|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.R477C|UBE3A_ENST00000566215.1_Missense_Mutation_p.R477C|UBE3A_ENST00000428984.2_Missense_Mutation_p.R477C			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	500	Interaction with HCV core protein.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.R500C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTGTACATGCGAATTCTATTG	0.343																																						ENST00000232165.3																			1	Substitution - Missense(1)	p.R500C(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1489-1491)Cgc>Tgc		ubiquitin protein ligase E3A							77	72	74					15																	25615832		2203	4298	6501	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25615832G>A	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.1498C>T	15.37:g.25615832G>A	ENSP00000381045:p.Arg500Cys		Somatic				SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.R477C|UBE3A_ENST00000428984.2_Missense_Mutation_p.R477C|UBE3A_ENST00000438097.1_Missense_Mutation_p.R477C|UBE3A_ENST00000397954.2_Missense_Mutation_p.R500C	p.R497C	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)	6	2145	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	500			Interaction with HCV core protein.		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.1489C>T	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286829	0.59867	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.89767	0.6810	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.966;0.996	D	0.91061	0.4885	10	0.87932	D	0	.	19.2105	0.93753	0.0:0.0:1.0:0.0	.	497;500	Q05086-3;Q05086	.;UBE3A_HUMAN	C	497;497;500;477;477	ENSP00000232165:R497C;ENSP00000381045:R500C;ENSP00000411258:R477C;ENSP00000401265:R477C	ENSP00000232165:R497C	R	-	1	0	UBE3A	23166925	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.573000	0.74009	2.553000	0.86117	0.591000	0.81541	CGC		0.343	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		15	33	0	0	0	1	0	15	33					A	25615832	G	A	25615832	3	1	48	1	0	0	0	0	1	0	0	0	16894	1058	37	1	1161	1	UBE3A	15	25615832	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	693825	25615832	76915560	3391	7859										
ATP10A	57194	broad.mit.edu	37	chr15	25925385	25925385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatagcacgtggcacaagacGcattgtaaatcaaagccacg	10	10	1	1	rs146387652		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:25925385G>A	ENST00000356865.6	-	20	3860	c.3749C>T	c.(3748-3750)gCg>gTg	p.A1250V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1250					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)	p.A1250V(1)		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)		GGCACAAGACGCATTGTAAAT	0.493																																						ENST00000356865.6																			1	Substitution - Missense(1)	p.A1250V(1)	endometrium(1)	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.(3748-3750)gCg>gTg		ATPase, class V, type 10A		G	VAL/ALA	0,4406		0,0,2203	156	137	144		3749	3.2	0	15	dbSNP_134	144	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP10A	NM_024490.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1250/1500	25925385	1,13005	2203	4300	6503	SO:0001583	missense	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.chr15:25925385G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3749C>T	15.37:g.25925385G>A	ENSP00000349325:p.Ala1250Val		Somatic					p.A1250V	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)	20	3860	-		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)	1250					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3749C>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823560	0.50739	0.0	1.16E-4	ENSG00000206190	ENST00000356865	D	0.87650	-2.28	5.07	3.15	0.36227	.	0.502540	0.22658	N	0.057231	T	0.81302	0.4794	M	0.68317	2.08	0.26000	N	0.982132	P	0.38922	0.651	B	0.25759	0.063	T	0.70454	-0.4867	10	0.37606	T	0.19	-0.7838	10.6597	0.45696	0.0723:0.1329:0.7948:0.0	.	1250	O60312	AT10A_HUMAN	V	1250	ENSP00000349325:A1250V	ENSP00000349325:A1250V	A	-	2	0	ATP10A	23476478	0.958000	0.32768	0.001000	0.08648	0.571000	0.35966	4.592000	0.61027	0.620000	0.30215	0.655000	0.94253	GCG		0.493	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		51	83	0	0	0	1	0	51	83					A	25925385	G	A	25925385	3	1	48	1	0	0	0	0	1	0	0	0	1116	1087	38	1	758	1	ATP10A	15	25925385	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	309553	25925385	76606007	3392	7860										
GABRB3	2562	broad.mit.edu	37	chr15	26793009	26793009	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatggaaacacgatcctggaCcatctgtctatggcattcac	8	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:26793009C>T	ENST00000311550.5	-	9	1464	c.1353G>A	c.(1351-1353)tgG>tgA	p.W451*	GABRB3_ENST00000299267.4_Nonsense_Mutation_p.W451*|GABRB3_ENST00000545868.1_Nonsense_Mutation_p.W366*|GABRB3_ENST00000400188.3_Nonsense_Mutation_p.W380*|GABRB3_ENST00000541819.2_Nonsense_Mutation_p.W507*	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	451					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGATCCTGGACCATCTGTCTA	0.408																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(1519-1521)tgG>tgA		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						127	105	112					15																	26793009		2203	4300	6503	SO:0001587	stop_gained	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26793009C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1353G>A	15.37:g.26793009C>T	ENSP00000308725:p.Trp451*		Somatic				GABRB3_ENST00000545868.1_Nonsense_Mutation_p.W366*|GABRB3_ENST00000311550.5_Nonsense_Mutation_p.W451*|GABRB3_ENST00000400188.3_Nonsense_Mutation_p.W380*|GABRB3_ENST00000299267.4_Nonsense_Mutation_p.W451*	p.W507*			WXS	Illumina GAIIx	Phase_I	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	10	1623	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	451					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Nonsense_Mutation	SNP	ENST00000311550.5	37	c.1521G>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531557	0.96446	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	19.545	0.95291	0.0:1.0:0.0:0.0	.	.	.	.	X	451;507;451;380;366	.	ENSP00000299267:W451X	W	-	3	0	GABRB3	24344102	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.707000	0.84623	2.861000	0.98227	0.655000	0.94253	TGG		0.408	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			7	68	0	0	0	1	0	7	68					T	26793009	C	T	26793009	4	4	48	1	0	0	0	0	0	1	0	0	6176	508	18	3	72	3	GABRB3	15	26793009	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	867624	26793009	75738383	3393	7861										
HERC2	8924	broad.mit.edu	37	chr15	28414768	28414768	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgcaccacttattttattaCtggcagcagaagaatcagca	7	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:28414768C>A	ENST00000261609.7	-	66	10199	c.10091G>T	c.(10090-10092)aGt>aTt	p.S3364I		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)		TATTTTATTACTGGCAGCAGA	0.373																																						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.(10090-10092)aGt>aTt		HECT and RLD domain containing E3 ubiquitin protein ligase 2							89	88	88					15																	28414768		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.chr15:28414768C>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.10091G>T	15.37:g.28414768C>A	ENSP00000261609:p.Ser3364Ile		Somatic					p.S3364I	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)	66	10199	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3364						Missense_Mutation	SNP	ENST00000261609.7	37	c.10091G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722823	0.68959	.	.	ENSG00000128731	ENST00000261609	T	0.39592	1.07	5.76	2.89	0.33648	.	0.176849	0.64402	D	0.000012	T	0.36552	0.0971	L	0.50333	1.59	0.49483	D	0.999793	P	0.46395	0.877	B	0.41860	0.368	T	0.07616	-1.0763	10	0.35671	T	0.21	.	11.1188	0.48277	0.0:0.8005:0.0:0.1995	.	3364	O95714	HERC2_HUMAN	I	3364	ENSP00000261609:S3364I	ENSP00000261609:S3364I	S	-	2	0	HERC2	26088363	1.000000	0.71417	0.998000	0.56505	0.702000	0.40608	2.480000	0.45206	0.459000	0.27016	0.655000	0.94253	AGT		0.373	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		8	80	1	0	5.4927e-09	1	6.54492e-09	8	80					A	28414768	C	A	28414768	3	1	48	1	0	0	0	0	1	0	0	0	7067	565	20	5	4525	5	HERC2	15	28414768	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1621759	28414768	74116624	3394	7862										
APBA2	321	broad.mit.edu	37	chr15	29368262	29368262	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccatatttcctaacagacaaAgaaggtggcatcatttccaa	6	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:29368262A>C	ENST00000558402.1	+	7	1636	c.1037A>C	c.(1036-1038)aAg>aCg	p.K346T	APBA2_ENST00000558259.1_Missense_Mutation_p.K346T|APBA2_ENST00000558330.1_Missense_Mutation_p.K346T|APBA2_ENST00000411764.1_Missense_Mutation_p.K346T|APBA2_ENST00000561069.1_Missense_Mutation_p.K346T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	346					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)		TAACAGACAAAGAAGGTGGCA	0.368																																						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.(1036-1038)aAg>aCg		amyloid beta (A4) precursor protein-binding, family A, member 2							185	184	184					15																	29368262		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29368262A>C	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.1037A>C	15.37:g.29368262A>C	ENSP00000453293:p.Lys346Thr		Somatic				APBA2_ENST00000558259.1_Missense_Mutation_p.K346T|APBA2_ENST00000558330.1_Missense_Mutation_p.K346T|APBA2_ENST00000561069.1_Missense_Mutation_p.K346T|APBA2_ENST00000411764.1_Missense_Mutation_p.K346T	p.K346T			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)	7	1636	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	346					E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1037A>C	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.171088	0.57584	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.08546	3.08	4.85	4.85	0.62838	.	0.056772	0.64402	D	0.000003	T	0.13243	0.0321	M	0.65975	2.015	0.80722	D	1	P;P;B;B	0.46706	0.54;0.883;0.349;0.075	B;B;B;B	0.42851	0.309;0.4;0.185;0.028	T	0.01375	-1.1371	10	0.62326	D	0.03	.	12.4034	0.55426	1.0:0.0:0.0:0.0	.	346;50;346;346	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	T	346;346;50	ENSP00000409312:K346T	ENSP00000219865:K346T	K	+	2	0	APBA2	27155554	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.989000	0.76219	1.821000	0.53095	0.533000	0.62120	AAG		0.368	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		5	67	0	0	0	1	0	5	67					C	29368262	A	C	29368262	3	2	48	1	0	0	0	0	1	0	0	0	757	72	3	4	1047	4	APBA2	15	29368262	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	953494	29368262	73163130	3395	7863										
APBA2	321	broad.mit.edu	37	chr15	29406121	29406121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcattgctgagcgagggggcGtccgtgtgggccaccgcatc	17	12	0	1	rs144849809		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:29406121G>A	ENST00000558402.1	+	15	2679	c.2080G>A	c.(2080-2082)Gtc>Atc	p.V694I	APBA2_ENST00000558259.1_Missense_Mutation_p.V694I|APBA2_ENST00000558330.1_Missense_Mutation_p.V682I|APBA2_ENST00000411764.1_Missense_Mutation_p.V682I|APBA2_ENST00000561069.1_Missense_Mutation_p.V694I			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	694	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)	p.V694I(1)		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)		GCGAGGGGGCGTCCGTGTGGG	0.627																																						ENST00000558402.1																			1	Substitution - Missense(1)	p.V694I(1)	haematopoietic_and_lymphoid_tissue(1)	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.(2080-2082)Gtc>Atc		amyloid beta (A4) precursor protein-binding, family A, member 2		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	98	81	87		2044,2080	4.6	0.9	15	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	APBA2	NM_001130414.1,NM_005503.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	682/738,694/750	29406121	1,13005	2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29406121G>A	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.2080G>A	15.37:g.29406121G>A	ENSP00000453293:p.Val694Ile		Somatic				APBA2_ENST00000558259.1_Missense_Mutation_p.V694I|APBA2_ENST00000558330.1_Missense_Mutation_p.V682I|APBA2_ENST00000561069.1_Missense_Mutation_p.V694I|APBA2_ENST00000411764.1_Missense_Mutation_p.V682I	p.V694I			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)	15	2679	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	694			PDZ 2.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.2080G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461429	0.84317	0.0	1.16E-4	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.17528	2.27	4.55	4.55	0.56014	PDZ/DHR/GLGF (4);	0.091157	0.42964	D	0.000628	T	0.20292	0.0488	N	0.10760	0.04	0.80722	D	1	D;P	0.69078	0.997;0.625	P;B	0.62649	0.905;0.242	T	0.24012	-1.0172	10	0.33940	T	0.23	.	16.319	0.82939	0.0:0.0:1.0:0.0	.	682;694	E9PGI4;Q99767	.;APBA2_HUMAN	I	682;694	ENSP00000409312:V682I	ENSP00000219865:V694I	V	+	1	0	APBA2	27193413	1.000000	0.71417	0.947000	0.38551	0.854000	0.48673	7.777000	0.85628	2.068000	0.61886	0.462000	0.41574	GTC		0.627	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		20	47	0	0	0	1	0	20	47					A	29406121	G	A	29406121	3	1	48	1	0	0	0	0	1	0	0	0	757	1145	40	1	2122	1	APBA2	15	29406121	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	37859	29406121	73125271	3396	7864										
TJP1	7082	broad.mit.edu	37	chr15	30034962	30034962	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagccccaggtttagaaattCtctcttcatctctactccgg	6	14	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:30034962C>A	ENST00000346128.6	-	9	1508	c.1034G>T	c.(1033-1035)aGa>aTa	p.R345I	TJP1_ENST00000356107.6_Missense_Mutation_p.R345I|TJP1_ENST00000400011.2_Missense_Mutation_p.R349I|TJP1_ENST00000545208.2_Missense_Mutation_p.R345I	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	345					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)		TTTAGAAATTCTCTCTTCATC	0.373																																					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.(1033-1035)aGa>aTa		tight junction protein 1							171	150	156					15																	30034962		1861	4114	5975	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.chr15:30034962C>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.1034G>T	15.37:g.30034962C>A	ENSP00000281537:p.Arg345Ile		Somatic				TJP1_ENST00000356107.6_Missense_Mutation_p.R345I|TJP1_ENST00000400011.2_Missense_Mutation_p.R349I|TJP1_ENST00000545208.2_Missense_Mutation_p.R345I	p.R345I	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)	9	1508	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	345					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.1034G>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442073	0.96187	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.07800	3.16;3.33;3.25;3.16	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	M	0.80746	2.51	0.80722	D	1	P;D;D;D	0.89917	0.93;0.959;0.96;1.0	P;P;P;D	0.85130	0.534;0.724;0.682;0.997	T	0.02098	-1.1214	9	.	.	.	.	19.6171	0.95638	0.0:1.0:0.0:0.0	.	338;345;345;349	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	I	345;349;345;345;345	ENSP00000281537:R345I;ENSP00000382890:R349I;ENSP00000441202:R345I;ENSP00000348416:R345I	.	R	-	2	0	TJP1	27822254	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	4.366000	0.59492	2.638000	0.89438	0.462000	0.41574	AGA		0.373	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		14	33	1	0	1.05317e-09	1	1.27574e-09	14	33					A	30034962	C	A	30034962	3	1	48	1	0	0	0	0	1	0	0	0	15944	913	32	2	4292	2	TJP1	15	30034962	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	628841	30034962	72496430	3397	7865										
MTMR15	22909	broad.mit.edu	37	chr15	31197613	31197613	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggctacccgggaatgtgaGaaatcagccctcacccctgg	11	13	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:31197613G>T	ENST00000362065.4	+	2	1038	c.747G>T	c.(745-747)gaG>gaT	p.E249D	FAN1_ENST00000565466.1_Missense_Mutation_p.E249D|FAN1_ENST00000561607.1_Missense_Mutation_p.E249D|FAN1_ENST00000561594.1_Missense_Mutation_p.E249D	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	249					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						GGGAATGTGAGAAATCAGCCC	0.403								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.(745-747)gaG>gaT	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							59	57	57					15																	31197613		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31197613G>T		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.747G>T	15.37:g.31197613G>T	ENSP00000354497:p.Glu249Asp		Somatic				FAN1_ENST00000561607.1_Missense_Mutation_p.E249D|FAN1_ENST00000561594.1_Missense_Mutation_p.E249D|FAN1_ENST00000565466.1_Missense_Mutation_p.E249D	p.E249D	NM_014967.4	NP_055782.3	WXS	Illumina GAIIx	Phase_I	Q9Y2M0	FAN1_HUMAN			2	1038	+			249					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.747G>T	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	G	4.203	0.036471	0.08148	.	.	ENSG00000198690	ENST00000362065	T	0.47869	0.83	5.39	4.46	0.54185	.	0.814558	0.11081	N	0.601815	T	0.35595	0.0937	L	0.40543	1.245	0.09310	N	1	B;B	0.24092	0.097;0.053	B;B	0.18561	0.016;0.022	T	0.15235	-1.0444	10	0.12766	T	0.61	-7.0815	9.6236	0.39737	0.0799:0.0:0.767:0.1531	.	249;249	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	D	249	ENSP00000354497:E249D	ENSP00000354497:E249D	E	+	3	2	FAN1	28984905	0.025000	0.19082	0.029000	0.17559	0.745000	0.42441	1.303000	0.33470	2.687000	0.91594	0.655000	0.94253	GAG		0.403	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		12	45	1	0	0.010729	1	0.0110271	12	45					T	31197613	G	T	31197613	3	4	48	1	0	0	0	0	1	0	0	0	9952	933	33	2	749	2	MTMR15	15	31197613	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1162651	31197613	71333779	3398	7866										
MTMR15	22909	broad.mit.edu	37	chr15	31210381	31210381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctccagatatgcagcagccaCgcacatgctgagtgacattt	9	12	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:31210381C>T	ENST00000362065.4	+	6	2117	c.1826C>T	c.(1825-1827)aCg>aTg	p.T609M		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	609					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						GCAGCAGCCACGCACATGCTG	0.468								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.(1825-1827)aCg>aTg	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							109	105	106					15																	31210381		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31210381C>T		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1826C>T	15.37:g.31210381C>T	ENSP00000354497:p.Thr609Met		Somatic					p.T609M	NM_014967.4	NP_055782.3	WXS	Illumina GAIIx	Phase_I	Q9Y2M0	FAN1_HUMAN			6	2117	+			609					A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.1826C>T	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	C	2.608	-0.291514	0.05568	.	.	ENSG00000198690	ENST00000362065	T	0.36699	1.24	5.89	-1.92	0.07618	.	0.474561	0.24869	N	0.034949	T	0.13286	0.0322	N	0.02011	-0.69	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.003	T	0.22521	-1.0214	10	0.36615	T	0.2	-0.7397	12.8743	0.57982	0.0:0.4961:0.0:0.5039	.	609;609	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	M	609	ENSP00000354497:T609M	ENSP00000354497:T609M	T	+	2	0	FAN1	28997673	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.029000	0.12329	-0.235000	0.09767	-0.290000	0.09829	ACG		0.468	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		21	91	0	0	0	1	0	21	91					T	31210381	C	T	31210381	3	4	48	1	0	0	0	0	1	0	0	0	9952	536	19	1	1869	1	MTMR15	15	31210381	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	12768	31210381	71321011	3399	7867										
MTMR10	54893	broad.mit.edu	37	chr15	31251300	31251300	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttggtctgctaaagaactTggcactacaatgtattctgg	9	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:31251300T>C	ENST00000435680.1	-	8	880	c.783A>G	c.(781-783)ccA>ccG	p.P261P	MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000563714.1_Silent_p.P179P|MTMR10_ENST00000314404.8_Silent_p.P13P|RNU6-466P_ENST00000391224.1_RNA	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	261	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CTAAAGAACTTGGCACTACAA	0.393																																						ENST00000435680.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(781-783)ccA>ccG		myotubularin related protein 10							56	50	52					15																	31251300		1835	4084	5919	SO:0001819	synonymous_variant	54893						phosphatase activity	g.chr15:31251300T>C	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.783A>G	15.37:g.31251300T>C			Somatic				MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000563714.1_Silent_p.P179P|MTMR10_ENST00000314404.8_Silent_p.P13P	p.P261P	NM_017762.2	NP_060232.2	WXS	Illumina GAIIx	Phase_I	Q9NXD2	MTMRA_HUMAN		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	8	880	-		all_lung(180;2.81e-11)	261			Myotubularin phosphatase.		Q6P4Q6	Silent	SNP	ENST00000435680.1	37	c.783A>G	CCDS45204.1																																																																																				0.393	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		4	8	0	0	0	1	0	4	8					C	31251300	T	C	31251300	2	2	48	1	0	0	0	0	0	0	0	1	9948	1799	63	4		4	MTMR10	15	31251300	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	40919	31251300	71280092	3400	7868										
ARHGAP11A	9824	broad.mit.edu	37	chr15	32917394	32917394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taacacagaaaagaagctacGattacaggctgcagtagtac	9	8	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:32917394G>A	ENST00000361627.3	+	5	1387	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.R222Q|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.R33Q|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.R33Q|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.R222Q	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	222	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)			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)		AAGAAGCTACGATTACAGGCT	0.358																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(664-666)cGa>cAa		Rho GTPase activating protein 11A							99	90	93					15																	32917394		2201	4300	6501	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32917394G>A	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.665G>A	15.37:g.32917394G>A	ENSP00000355090:p.Arg222Gln		Somatic				ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.R33Q|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.R33Q|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.R222Q|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.R222Q	p.R222Q	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)	5	1387	+		all_lung(180;1.3e-11)	222			Rho-GAP.		B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.665G>A	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	14.45	2.537976	0.45176	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T;T	0.41758	0.99;1.98	4.95	4.95	0.65309	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.45867	D	0.000328	T	0.58308	0.2113	L	0.43646	1.37	0.39647	D	0.970415	D;D	0.89917	0.993;1.0	P;D	0.91635	0.714;0.999	T	0.58885	-0.7557	10	0.44086	T	0.13	.	18.5578	0.91091	0.0:0.0:1.0:0.0	.	222;33	Q6P4F7;B4DZN9	RHGBA_HUMAN;.	Q	222;33	ENSP00000355090:R222Q;ENSP00000440073:R33Q	ENSP00000355090:R222Q	R	+	2	0	ARHGAP11A	30704686	0.992000	0.36948	0.998000	0.56505	0.985000	0.73830	5.108000	0.64609	2.446000	0.82766	0.557000	0.71058	CGA		0.358	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		28	32	0	0	0	1	0	28	32					A	32917394	G	A	32917394	3	1	48	1	0	0	0	0	1	0	0	0	863	1058	37	1	683	1	ARHGAP11A	15	32917394	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1666094	32917394	69613998	3401	7869										
ARHGAP11A	9824	broad.mit.edu	37	chr15	32929102	32929102	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcattcaaatatgccaaaaGattatttaagcaagcaagaa	5	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:32929102G>T	ENST00000361627.3	+	12	2850	c.2128G>T	c.(2128-2130)Gat>Tat	p.D710Y	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.D521Y|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.D521Y	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	710					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.D710H(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)		TATGCCAAAAGATTATTTAAG	0.284																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			1	Substitution - Missense(1)	p.D710H(1)	lung(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.(2128-2130)Gat>Tat		Rho GTPase activating protein 11A							28	31	30					15																	32929102		2198	4287	6485	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32929102G>T	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.2128G>T	15.37:g.32929102G>T	ENSP00000355090:p.Asp710Tyr		Somatic				ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.D521Y|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.D521Y	p.D710Y	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)	12	2850	+		all_lung(180;1.3e-11)	710					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.2128G>T	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	13.48	2.250264	0.39797	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.12361	2.69	4.97	4.05	0.47172	.	0.429406	0.21877	N	0.067797	T	0.28466	0.0704	M	0.61703	1.905	0.09310	N	1	D	0.71674	0.998	P	0.60173	0.87	T	0.04017	-1.0984	10	0.72032	D	0.01	.	10.8558	0.46798	0.1527:0.0:0.8473:0.0	.	710	Q6P4F7	RHGBA_HUMAN	Y	710;521	ENSP00000355090:D710Y	ENSP00000355090:D710Y	D	+	1	0	ARHGAP11A	30716394	0.160000	0.22878	0.003000	0.11579	0.695000	0.40330	2.232000	0.43018	1.449000	0.47699	0.650000	0.86243	GAT		0.284	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		17	26	1	0	6.94344e-10	1	8.4399e-10	17	26					T	32929102	G	T	32929102	3	4	48	1	0	0	0	0	1	0	0	0	863	942	33	2	2197	2	ARHGAP11A	15	32929102	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	11708	32929102	69602290	3402	7870										
ARHGAP11A	9824	broad.mit.edu	37	chr15	32929515	32929515	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccgtcagaagaattaattcTttgttggagtatagcagaca	9	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:32929515T>G	ENST00000361627.3	+	12	3263	c.2541T>G	c.(2539-2541)tcT>tcG	p.S847S	ARHGAP11A_ENST00000565905.1_Silent_p.S658S|ARHGAP11A_ENST00000543522.1_Silent_p.S658S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	847					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(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)		GAATTAATTCTTTGTTGGAGT	0.408																																					Colon(45;757 1134 30003 36652)	ENST00000361627.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2539-2541)tcT>tcG		Rho GTPase activating protein 11A							121	128	125					15																	32929515		2201	4300	6501	SO:0001819	synonymous_variant	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32929515T>G	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.2541T>G	15.37:g.32929515T>G			Somatic				ARHGAP11A_ENST00000543522.1_Silent_p.S658S|ARHGAP11A_ENST00000565905.1_Silent_p.S658S	p.S847S	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)	12	3263	+		all_lung(180;1.3e-11)	847					B4DZN9|Q6PI96|Q9Y3S6	Silent	SNP	ENST00000361627.3	37	c.2541T>G	CCDS10028.1																																																																																				0.408	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		40	54	0	0	0	1	0	40	54					G	32929515	T	G	32929515	2	3	48	1	0	0	0	0	0	0	0	1	863	1596	56	4		4	ARHGAP11A	15	32929515	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	413	32929515	69601877	3403	7871										
FMN1	342184	broad.mit.edu	37	chr15	33091084	33091084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcataccacaccataaacaCgtagctgggtgtgatctcct	7	13	2	1	rs76835557	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:33091084C>T	ENST00000559047.1	-	16	4050	c.4051G>A	c.(4051-4053)Gtg>Atg	p.V1351M	FMN1_ENST00000334528.9_Missense_Mutation_p.V1128M|FMN1_ENST00000561249.1_Missense_Mutation_p.V1253M			Q68DA7	FMN1_HUMAN	formin 1	1351	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)		ACCATAAACACGTAGCTGGGT	0.398													C|||	8	0.00159744	0.0061	0	5008	,	,		19282	0		0	False		,,,				2504	0					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.(3382-3384)Gtg>Atg		formin 1		C	MET/VAL	21,3741		0,21,1860	108	98	101		3382	5.9	1	15	dbSNP_131	101	0,8240		0,0,4120	yes	missense	FMN1	NM_001103184.2	21	0,21,5980	TT,TC,CC		0.0,0.5582,0.175	probably-damaging	1128/1197	33091084	21,11981	1881	4120	6001	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33091084C>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.4051G>A	15.37:g.33091084C>T	ENSP00000454047:p.Val1351Met		Somatic				FMN1_ENST00000561249.1_Missense_Mutation_p.V1253M|FMN1_ENST00000559047.1_Missense_Mutation_p.V1351M	p.V1128M	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)	15	3381	-		all_lung(180;1.14e-07)	1351			FH2.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.3382G>A		8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	C	18.04	3.535147	0.64972	0.005582	0.0	ENSG00000248905	ENST00000334528	T	0.19250	2.16	5.86	5.86	0.93980	.	0.181555	0.47852	D	0.000206	T	0.23171	0.0560	L	0.43152	1.355	.	.	.	D	0.89917	1.0	D	0.72338	0.977	T	0.14531	-1.0469	9	0.66056	D	0.02	.	14.9571	0.71124	0.1428:0.8572:0.0:0.0	.	1128	Q68DA7-5	.	M	1128	ENSP00000333950:V1128M	ENSP00000333950:V1128M	V	-	1	0	FMN1	30878376	0.997000	0.39634	0.992000	0.48379	0.992000	0.81027	1.688000	0.37690	2.773000	0.95371	0.655000	0.94253	GTG		0.398	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		7	24	0	0	0	1	0	7	24					T	33091084	C	T	33091084	3	4	48	1	0	0	0	0	1	0	0	0	5957	536	19	1	220	1	FMN1	15	33091084	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	161569	33091084	69440308	3404	7872										
FMN1	342184	broad.mit.edu	37	chr15	33261472	33261472	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcacagggcttgaggaaggtCtctctgtctgtctggacgca	13	10	5	1	rs201595699		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:33261472C>A	ENST00000559047.1	-	5	2429	c.2430G>T	c.(2428-2430)gaG>gaT	p.E810D	SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000334528.9_Missense_Mutation_p.E587D|FMN1_ENST00000561249.1_Missense_Mutation_p.E712D			Q68DA7	FMN1_HUMAN	formin 1	810	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)		TGAGGAAGGTCTCTCTGTCTG	0.483																																						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.(1759-1761)gaG>gaT		formin 1							420	388	398					15																	33261472		2000	4170	6170	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261472C>A	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.2430G>T	15.37:g.33261472C>A	ENSP00000454047:p.Glu810Asp		Somatic				FMN1_ENST00000561249.1_Missense_Mutation_p.E712D|FMN1_ENST00000559047.1_Missense_Mutation_p.E810D	p.E587D	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	1760	-		all_lung(180;1.14e-07)	810			Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.1761G>T		.	.	.	.	.	.	.	.	.	.	c	14.67	2.606019	0.46527	.	.	ENSG00000248905	ENST00000334528	T	0.60171	0.21	4.59	3.68	0.42216	.	0.054136	0.64402	D	0.000001	T	0.59211	0.2177	M	0.68952	2.095	.	.	.	P	0.35894	0.526	B	0.43867	0.434	T	0.70938	-0.4736	9	0.72032	D	0.01	.	7.5935	0.28035	0.0:0.7556:0.0:0.2444	.	587	Q68DA7-5	.	D	587	ENSP00000333950:E587D	ENSP00000333950:E587D	E	-	3	2	FMN1	31048764	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.956000	0.49129	1.166000	0.42689	0.550000	0.68814	GAG		0.483	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		24	343	1	0	1.64293e-13	1	2.10822e-13	24	343					A	33261472	C	A	33261472	3	1	48	1	0	0	0	0	1	0	0	0	5957	912	32	2	1885	2	FMN1	15	33261472	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	170388	33261472	69269920	3405	7873										
RYR3	6263	broad.mit.edu	37	chr15	33954392	33954392	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctctgtgagcaggaggaccTgatgcggttccattaccaca	12	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:33954392T>G	ENST00000389232.4	+	35	4731	c.4661T>G	c.(4660-4662)cTg>cGg	p.L1554R	RYR3_ENST00000415757.3_Missense_Mutation_p.L1554R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1554	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)		CAGGAGGACCTGATGCGGTTC	0.612																																						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.(4660-4662)cTg>cGg		ryanodine receptor 3							38	39	38					15																	33954392		2081	4218	6299	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33954392T>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.4661T>G	15.37:g.33954392T>G	ENSP00000373884:p.Leu1554Arg		Somatic				RYR3_ENST00000415757.3_Missense_Mutation_p.L1554R	p.L1554R	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	4731	+		all_lung(180;7.18e-09)	1554			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.4661T>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210850	0.58343	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98329	-4.87;-4.87	5.09	5.09	0.68999	.	0.089782	0.45606	D	0.000343	D	0.98909	0.9630	M	0.86343	2.81	0.58432	D	0.999999	D;D	0.76494	0.999;0.992	D;D	0.67725	0.951;0.953	D	0.99723	1.1010	10	0.87932	D	0	.	15.1057	0.72319	0.0:0.0:0.0:1.0	.	1554;1554	Q15413-2;Q15413	.;RYR3_HUMAN	R	1554	ENSP00000373884:L1554R;ENSP00000399610:L1554R	ENSP00000354735:L1554R	L	+	2	0	RYR3	31741684	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.825000	0.86693	2.157000	0.67596	0.524000	0.50904	CTG		0.612	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			6	11	0	0	0	1	0	6	11					G	33954392	T	G	33954392	3	3	48	1	0	0	0	0	1	0	0	0	13785	1580	55	4	4799	4	RYR3	15	33954392	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	692920	33954392	68577000	3406	7874										
RYR3	6263	broad.mit.edu	37	chr15	34040342	34040342	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaatttatcgctggcctgcgCgagagtccctgaaaaccatg	10	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34040342C>T	ENST00000389232.4	+	54	8087	c.8017C>T	c.(8017-8019)Cga>Tga	p.R2673*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R2673*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2673	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)		CTGGCCTGCGCGAGAGTCCCT	0.527																																						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.(8017-8019)Cga>Tga		ryanodine receptor 3							83	89	87					15																	34040342		1985	4173	6158	SO:0001587	stop_gained	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34040342C>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.8017C>T	15.37:g.34040342C>T	ENSP00000373884:p.Arg2673*		Somatic				RYR3_ENST00000415757.3_Nonsense_Mutation_p.R2673*	p.R2673*	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)	54	8087	+		all_lung(180;7.18e-09)	2673			4 X approximate repeats.		O15175|Q15412	Nonsense_Mutation	SNP	ENST00000389232.4	37	c.8017C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	49	16.019640	0.99852	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.18	-0.151	0.13411	.	0.054075	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2029	0.65716	0.475:0.525:0.0:0.0	.	.	.	.	X	2673	.	ENSP00000354735:R2673X	R	+	1	2	RYR3	31827634	0.998000	0.40836	0.996000	0.52242	0.991000	0.79684	2.309000	0.43699	-0.180000	0.10637	-0.262000	0.10625	CGA		0.527	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			24	61	0	0	0	1	0	24	61					T	34040342	C	T	34040342	4	4	48	1	0	0	0	0	0	1	0	0	13785	760	27	1	8231	1	RYR3	15	34040342	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	85950	34040342	68491050	3407	7875										
RYR3	6263	broad.mit.edu	37	chr15	34049726	34049726	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accagtcattgcctctacttCttgtcatcccctctgaagcc	5	16	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34049726C>A	ENST00000389232.4	+	60	8704	c.8634C>A	c.(8632-8634)ttC>ttA	p.F2878L	RYR3_ENST00000415757.3_Missense_Mutation_p.F2878L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2878					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)		GCCTCTACTTCTTGTCATCCC	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.(8632-8634)ttC>ttA		ryanodine receptor 3							92	86	88					15																	34049726		1942	4147	6089	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34049726C>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.8634C>A	15.37:g.34049726C>A	ENSP00000373884:p.Phe2878Leu		Somatic				RYR3_ENST00000415757.3_Missense_Mutation_p.F2878L	p.F2878L	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)	60	8704	+		all_lung(180;7.18e-09)	2878					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8634C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105488	0.77096	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98512	-4.97;-4.95	5.41	2.51	0.30379	.	0.000000	0.85682	D	0.000000	D	0.98340	0.9449	M	0.76170	2.325	0.48632	D	0.999686	D;D	0.76494	0.979;0.999	P;D	0.70716	0.725;0.97	D	0.98091	1.0409	10	0.87932	D	0	.	8.6268	0.33895	0.0:0.6438:0.0:0.3562	.	2878;2878	Q15413-2;Q15413	.;RYR3_HUMAN	L	2878	ENSP00000373884:F2878L;ENSP00000399610:F2878L	ENSP00000354735:F2878L	F	+	3	2	RYR3	31837018	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.600000	0.36762	0.873000	0.35799	0.655000	0.94253	TTC		0.498	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	13	1	0	0.0293803	1	0.0299069	7	13					A	34049726	C	A	34049726	3	1	48	1	0	0	0	0	1	0	0	0	13785	912	32	2	8872	2	RYR3	15	34049726	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	9384	34049726	68481666	3408	7876										
RYR3	6263	broad.mit.edu	37	chr15	34049795	34049795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggagaaagaaatggtggcCgggtgagtctacaagataaa	14	4	1	4	rs186614396	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34049795C>T	ENST00000389232.4	+	60	8773	c.8703C>T	c.(8701-8703)gcC>gcT	p.A2901A	RYR3_ENST00000415757.3_Silent_p.A2901A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2901					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)		AAATGGTGGCCGGGTGAGTCT	0.478													C|||	3	0.000599042	0	0.0014	5008	,	,		17239	0.001		0.001	False		,,,				2504	0					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.(8701-8703)gcC>gcT		ryanodine receptor 3		C		0,3858		0,0,1929	58	54	55		8703	4.5	1	15		55	10,8296		0,10,4143	no	coding-synonymous	RYR3	NM_001036.3		0,10,6072	TT,TC,CC		0.1204,0.0,0.0822		2901/4871	34049795	10,12154	1929	4153	6082	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34049795C>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.8703C>T	15.37:g.34049795C>T			Somatic				RYR3_ENST00000415757.3_Silent_p.A2901A	p.A2901A	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)	60	8773	+		all_lung(180;7.18e-09)	2901					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.8703C>T	CCDS45210.1																																																																																				0.478	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	8	0	0	0	1	0	7	8					T	34049795	C	T	34049795	2	4	48	1	0	0	0	0	0	0	0	1	13785	639	23	1		1	RYR3	15	34049795	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	69	34049795	68481597	3409	7877										
RYR3	6263	broad.mit.edu	37	chr15	34080594	34080594	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcctcatcctggacgagttCgcggtcctctgcagagatct	10	14	3	1	rs368742527		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34080594C>T	ENST00000389232.4	+	67	9835	c.9765C>T	c.(9763-9765)ttC>ttT	p.F3255F	RYR3_ENST00000415757.3_Silent_p.F3255F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3255					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)		TGGACGAGTTCGCGGTCCTCT	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.(9763-9765)ttC>ttT		ryanodine receptor 3							77	82	81					15																	34080594		2034	4196	6230	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34080594C>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.9765C>T	15.37:g.34080594C>T			Somatic				RYR3_ENST00000415757.3_Silent_p.F3255F	p.F3255F	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)	67	9835	+		all_lung(180;7.18e-09)	3255					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.9765C>T	CCDS45210.1																																																																																				0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			32	74	0	0	0	1	0	32	74					T	34080594	C	T	34080594	2	4	48	1	0	0	0	0	0	0	0	1	13785	883	31	1		1	RYR3	15	34080594	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	30799	34080594	68450798	3410	7878										
RYR3	6263	broad.mit.edu	37	chr15	34115220	34115220	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgctagattacctaaaggaGaaaaaggatgctggattctt	10	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34115220G>T	ENST00000389232.4	+	81	11089	c.11019G>T	c.(11017-11019)gaG>gaT	p.E3673D	RYR3_ENST00000415757.3_Missense_Mutation_p.E3668D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3673					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)		ACCTAAAGGAGAAAAAGGATG	0.423																																						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.(11017-11019)gaG>gaT		ryanodine receptor 3							112	107	108					15																	34115220		1842	4108	5950	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34115220G>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.11019G>T	15.37:g.34115220G>T	ENSP00000373884:p.Glu3673Asp		Somatic				RYR3_ENST00000415757.3_Missense_Mutation_p.E3668D	p.E3673D	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)	81	11089	+		all_lung(180;7.18e-09)	3673					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.11019G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303635	0.23736	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.90504	-2.68	5.35	3.5	0.40072	.	0.000000	0.85682	D	0.000000	D	0.89339	0.6687	N	0.24115	0.695	0.37885	D	0.9305	D;P	0.71674	0.998;0.468	D;B	0.72982	0.979;0.225	D	0.86266	0.1658	10	0.22706	T	0.39	.	9.0324	0.36267	0.2212:0.0:0.7788:0.0	.	3668;3673	Q15413-2;Q15413	.;RYR3_HUMAN	D	3673;3672;3668	ENSP00000373884:E3673D	ENSP00000354735:E3668D	E	+	3	2	RYR3	31902512	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.393000	0.44442	0.839000	0.34971	0.655000	0.94253	GAG		0.423	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			15	49	1	0	6.31663e-08	1	7.35827e-08	15	49					T	34115220	G	T	34115220	3	4	48	1	0	0	0	0	1	0	0	0	13785	933	33	2	11341	2	RYR3	15	34115220	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	34626	34115220	68416172	3411	7879										
RYR3	6263	broad.mit.edu	37	chr15	34123245	34123245	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcacaatttttccaaagctCtggcagtcaccaagcagatt	7	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34123245C>A	ENST00000389232.4	+	86	11486	c.11416C>A	c.(11416-11418)Ctg>Atg	p.L3806M	RYR3_ENST00000415757.3_Missense_Mutation_p.L3801M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3806					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)		TTCCAAAGCTCTGGCAGTCAC	0.378																																						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.(11416-11418)Ctg>Atg		ryanodine receptor 3							98	90	92					15																	34123245		1862	4096	5958	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34123245C>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.11416C>A	15.37:g.34123245C>A	ENSP00000373884:p.Leu3806Met		Somatic				RYR3_ENST00000415757.3_Missense_Mutation_p.L3801M	p.L3806M	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)	86	11486	+		all_lung(180;7.18e-09)	3806					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.11416C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441083	0.43326	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T	0.69685	-0.42	5.65	3.65	0.41850	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	D	0.000008	T	0.58821	0.2149	N	0.12182	0.205	0.41142	D	0.985965	D;D	0.76494	0.999;0.999	D;D	0.79108	0.974;0.992	T	0.59648	-0.7415	10	0.30078	T	0.28	.	2.6218	0.04918	0.2315:0.5032:0.0:0.2653	.	3801;3806	Q15413-2;Q15413	.;RYR3_HUMAN	M	3806;3805;3802	ENSP00000373884:L3806M	ENSP00000354735:L3802M	L	+	1	2	RYR3	31910537	0.493000	0.26035	1.000000	0.80357	0.993000	0.82548	0.467000	0.22035	1.620000	0.50308	0.655000	0.94253	CTG		0.378	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	24	1	0	1.58986e-06	1	1.78832e-06	9	24					A	34123245	C	A	34123245	3	1	48	1	0	0	0	0	1	0	0	0	13785	912	32	2	11758	2	RYR3	15	34123245	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	8025	34123245	68408147	3412	7880										
RYR3	6263	broad.mit.edu	37	chr15	34130278	34130278	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaccctacctaggacgcatcGagatcatgggtggggccaag	13	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34130278G>A	ENST00000389232.4	+	89	12167	c.12097G>A	c.(12097-12099)Gag>Aag	p.E4033K	RYR3_ENST00000415757.3_Missense_Mutation_p.E4028K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4033					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)		AGGACGCATCGAGATCATGGG	0.488																																						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.(12097-12099)Gag>Aag		ryanodine receptor 3							105	105	105					15																	34130278		1948	4150	6098	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130278G>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.12097G>A	15.37:g.34130278G>A	ENSP00000373884:p.Glu4033Lys		Somatic				RYR3_ENST00000415757.3_Missense_Mutation_p.E4028K	p.E4033K	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)	89	12167	+		all_lung(180;7.18e-09)	4033					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.12097G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218068	0.79352	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.97941	-4.62	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.99795	1.1033	10	0.87932	D	0	.	18.7376	0.91761	0.0:0.0:1.0:0.0	.	4028;4033	Q15413-2;Q15413	.;RYR3_HUMAN	K	4033;4029	ENSP00000373884:E4033K	ENSP00000354735:E4029K	E	+	1	0	RYR3	31917570	1.000000	0.71417	0.999000	0.59377	0.759000	0.43091	9.530000	0.98051	2.650000	0.89964	0.551000	0.68910	GAG		0.488	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			45	84	0	0	0	1	0	45	84					A	34130278	G	A	34130278	3	1	48	1	0	0	0	0	1	0	0	0	13785	1059	37	1	12451	1	RYR3	15	34130278	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	7033	34130278	68401114	3413	7881										
CHRM5	1133	broad.mit.edu	37	chr15	34356260	34356260	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccagacactgagtgccattCtcctggccttcatcatcaca	6	16	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34356260C>A	ENST00000383263.5	+	3	2012	c.1342C>A	c.(1342-1344)Ctc>Atc	p.L448I	CHRM5_ENST00000557872.1_Missense_Mutation_p.L448I	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	448					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GAGTGCCATTCTCCTGGCCTT	0.512																																						ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(1342-1344)Ctc>Atc		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						183	140	154					15																	34356260		2201	4298	6499	SO:0001583	missense	0				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34356260C>A		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1954	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 5"	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.1342C>A	15.37:g.34356260C>A	ENSP00000372750:p.Leu448Ile		Somatic				CHRM5_ENST00000557872.1_Missense_Mutation_p.L448I	p.L448I	NM_012125.3	NP_036257.1	WXS	Illumina GAIIx	Phase_I	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	2012	+		all_lung(180;1.76e-08)	448					Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.1342C>A	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200844	0.79015	.	.	ENSG00000184984	ENST00000383263	T	0.73897	-0.79	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.139445	0.49916	D	0.000127	D	0.88647	0.6493	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89788	0.3966	10	0.87932	D	0	-16.1321	19.4929	0.95059	0.0:1.0:0.0:0.0	.	448	P08912	ACM5_HUMAN	I	448	ENSP00000372750:L448I	ENSP00000372750:L448I	L	+	1	0	CHRM5	32143552	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	7.651000	0.83577	2.835000	0.97688	0.650000	0.86243	CTC		0.512	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			31	54	1	0	6.38683e-12	1	8.00204e-12	31	54					A	34356260	C	A	34356260	3	1	48	1	0	0	0	0	1	0	0	0	3382	913	32	2	1344	2	CHRM5	15	34356260	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	225982	34356260	68175132	3414	7882										
SLC12A6	9990	broad.mit.edu	37	chr15	34531322	34531322	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggccaccaccagctggcagaAtccttttaccttctctgcct	7	16	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34531322A>C	ENST00000354181.3	-	20	2968	c.2476T>G	c.(2476-2478)Ttc>Gtc	p.F826V	SLC12A6_ENST00000560611.1_Missense_Mutation_p.F826V|SLC12A6_ENST00000560164.1_Missense_Mutation_p.F638V|SLC12A6_ENST00000290209.5_Missense_Mutation_p.F775V|SLC12A6_ENST00000558589.1_Missense_Mutation_p.F817V|SLC12A6_ENST00000397707.2_Missense_Mutation_p.F811V|SLC12A6_ENST00000451844.2_Missense_Mutation_p.F638V|SLC12A6_ENST00000558667.1_Missense_Mutation_p.F826V|SLC12A6_ENST00000397702.2_Missense_Mutation_p.F767V|SLC12A6_ENST00000458406.2_Missense_Mutation_p.F767V			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	826					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)	AGCTGGCAGAATCCTTTTACC	0.527																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(2476-2478)Ttc>Gtc		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						151	142	145					15																	34531322		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34531322A>C	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.2476T>G	15.37:g.34531322A>C	ENSP00000346112:p.Phe826Val		Somatic				SLC12A6_ENST00000560611.1_Missense_Mutation_p.F826V|SLC12A6_ENST00000560164.1_Missense_Mutation_p.F638V|SLC12A6_ENST00000458406.2_Missense_Mutation_p.F767V|SLC12A6_ENST00000451844.2_Missense_Mutation_p.F638V|SLC12A6_ENST00000397702.2_Missense_Mutation_p.F767V|SLC12A6_ENST00000397707.2_Missense_Mutation_p.F811V|SLC12A6_ENST00000558589.1_Missense_Mutation_p.F817V|SLC12A6_ENST00000290209.5_Missense_Mutation_p.F775V|SLC12A6_ENST00000558667.1_Missense_Mutation_p.F826V	p.F826V			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	2968	-		all_lung(180;2.78e-08)	826					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.2476T>G	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.685826	0.88639	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9;-3.9	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.97907	0.9312	M	0.90019	3.08	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.981;0.969	D;D;D;P	0.80764	0.993;0.994;0.933;0.678	D	0.98824	1.0748	10	0.87932	D	0	.	13.7847	0.63102	1.0:0.0:0.0:0.0	.	811;826;775;638	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	V	775;811;817;767;767;638	ENSP00000290209:F775V;ENSP00000380819:F811V;ENSP00000380814:F767V;ENSP00000387725:F767V;ENSP00000390199:F638V	ENSP00000290209:F775V	F	-	1	0	SLC12A6	32318614	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.120000	0.94369	2.078000	0.62432	0.455000	0.32223	TTC		0.527	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		52	101	0	0	0	1	0	52	101					C	34531322	A	C	34531322	3	2	48	1	0	0	0	0	1	0	0	0	14402	101	4	4	1004	4	SLC12A6	15	34531322	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	175062	34531322	68000070	3415	7883										
MEIS2	4212	broad.mit.edu	37	chr15	37387806	37387806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaggaaaaaagtggcttttCggcgcgaacctgtaagaaac	12	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:37387806C>T	ENST00000561208.1	-	4	815	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	MEIS2_ENST00000559085.1_Missense_Mutation_p.E120K|MEIS2_ENST00000559561.1_Missense_Mutation_p.E133K|MEIS2_ENST00000444725.1_Missense_Mutation_p.E133K|MEIS2_ENST00000340545.5_Missense_Mutation_p.E120K|MEIS2_ENST00000338564.5_Missense_Mutation_p.E133K|MEIS2_ENST00000424352.2_Missense_Mutation_p.E133K|MEIS2_ENST00000397620.2_Missense_Mutation_p.E45K|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000557796.2_Missense_Mutation_p.E120K|MEIS2_ENST00000382766.2_Missense_Mutation_p.E133K|MEIS2_ENST00000397624.3_Missense_Mutation_p.E45K			O14770	MEIS2_HUMAN	Meis homeobox 2	133	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)		AGTGGCTTTTCGGCGCGAACC	0.478																																						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.(397-399)Gaa>Aaa		Meis homeobox 2							102	96	98					15																	37387806		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.chr15:37387806C>T	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.397G>A	15.37:g.37387806C>T	ENSP00000453793:p.Glu133Lys		Somatic				MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.E133K|MEIS2_ENST00000561208.1_Missense_Mutation_p.E133K|MEIS2_ENST00000559561.1_Missense_Mutation_p.E133K|MEIS2_ENST00000559085.1_Missense_Mutation_p.E120K|MEIS2_ENST00000557796.2_Missense_Mutation_p.E120K|MEIS2_ENST00000444725.1_Missense_Mutation_p.E133K|MEIS2_ENST00000424352.2_Missense_Mutation_p.E133K|MEIS2_ENST00000397624.3_Missense_Mutation_p.E45K|MEIS2_ENST00000397620.2_Missense_Mutation_p.E45K|MEIS2_ENST00000340545.5_Missense_Mutation_p.E120K	p.E133K	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)	5	843	-		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)	133					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.397G>A	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	37	6.071977	0.97256	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620	T;T;T;T;T;T;T	0.34072	1.53;1.38;1.38;1.53;1.53;1.53;1.53	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.99;0.999;0.99;0.977;0.986;0.999;0.992	P;P;P;P;P;D;P	0.79784	0.664;0.894;0.727;0.766;0.562;0.993;0.812	T	0.65319	-0.6197	10	0.59425	D	0.04	-2.2067	19.3563	0.94416	0.0:1.0:0.0:0.0	.	120;133;133;133;133;45;120	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KPQ6;B3KP98	.;.;MEIS2_HUMAN;.;.;.;.	K	133;133;133;133;133;120;120;45	ENSP00000326296:E133K;ENSP00000341400:E133K;ENSP00000372216:E133K;ENSP00000404185:E133K;ENSP00000391887:E133K;ENSP00000339549:E120K;ENSP00000380745:E45K	ENSP00000326296:E133K	E	-	1	0	MEIS2	35175098	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.766000	0.85320	2.669000	0.90835	0.655000	0.94253	GAA		0.478	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		16	36	0	0	0	1	0	16	36					T	37387806	C	T	37387806	3	4	48	1	0	0	0	0	1	0	0	0	9477	893	31	1	1135	1	MEIS2	15	37387806	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2856484	37387806	65143586	3416	7884										
FAM98B	283742	broad.mit.edu	37	chr15	38766438	38766438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaatatgagtgccgccgacGaatgttaatgaaacgattag	11	6	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:38766438G>A	ENST00000491535.1	+	6	676	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	FAM98B_ENST00000397609.2_Missense_Mutation_p.R223Q	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	223						cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		TGCCGCCGACGAATGTTAATG	0.378																																						ENST00000397609.2																			0				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						c.(667-669)cGa>cAa		family with sequence similarity 98, member B							201	179	186					15																	38766438		2200	4297	6497	SO:0001583	missense	283742					tRNA-splicing ligase complex	protein binding	g.chr15:38766438G>A		CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831	ENST00000491535.1:c.668G>A	15.37:g.38766438G>A	ENSP00000453166:p.Arg223Gln		Somatic				FAM98B_ENST00000491535.1_Missense_Mutation_p.R223Q	p.R223Q	NM_173611.2	NP_775882.2	WXS	Illumina GAIIx	Phase_I	Q52LJ0	FA98B_HUMAN		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)	6	703	+		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)	223					A8MUW5|Q8N935	Missense_Mutation	SNP	ENST00000491535.1	37	c.668G>A	CCDS42015.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181735	0.57800	.	.	ENSG00000171262	ENST00000397609;ENST00000305752	T	0.46063	0.88	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.50205	0.1602	N	0.25332	0.735	0.50313	D	0.999866	D;P	0.89917	1.0;0.771	D;B	0.97110	1.0;0.162	T	0.28808	-1.0032	10	0.12103	T	0.63	-18.3246	18.6747	0.91525	0.0:0.0:1.0:0.0	.	223;223	A8MUW5;Q52LJ0	.;FA98B_HUMAN	Q	223	ENSP00000380734:R223Q	ENSP00000303412:R223Q	R	+	2	0	FAM98B	36553730	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.656000	0.46716	2.701000	0.92244	0.557000	0.71058	CGA		0.378	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611		33	75	0	0	0	1	0	33	75					A	38766438	G	A	38766438	3	1	48	1	0	0	0	0	1	0	0	0	5665	1058	37	1	690	1	FAM98B	15	38766438	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1378632	38766438	63764954	3417	7885										
PLCB2	5330	broad.mit.edu	37	chr15	40599857	40599857	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttggggggcagcaggacaGggttgagcagagacatggtg	19	7	0	2	rs377018757	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:40599857G>T	ENST00000260402.3	-	1	266	c.17C>A	c.(16-18)cCt>cAt	p.P6H	PLCB2_ENST00000543785.2_Missense_Mutation_p.P6H|PLCB2_ENST00000557821.1_Missense_Mutation_p.P6H|PLCB2_ENST00000456256.2_Missense_Mutation_p.P6H	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	6					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CAGCAGGACAGGGTTGAGCAG	0.607																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(16-18)cCt>cAt		phospholipase C, beta 2							54	59	57					15																	40599857		2080	4218	6298	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40599857G>T		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.17C>A	15.37:g.40599857G>T	ENSP00000260402:p.Pro6His		Somatic				PLCB2_ENST00000543785.2_Missense_Mutation_p.P6H|PLCB2_ENST00000456256.2_Missense_Mutation_p.P6H|PLCB2_ENST00000557821.1_Missense_Mutation_p.P6H	p.P6H	NM_004573.2	NP_004564.2	WXS	Illumina GAIIx	Phase_I	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	1	266	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	6					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.17C>A	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062372	0.55432	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	T;T;T	0.52057	1.78;1.65;0.68	5.53	5.53	0.82687	.	0.690018	0.14896	N	0.292100	T	0.57533	0.2060	L	0.38531	1.155	0.39824	D	0.972875	D;D;P;D	0.56746	0.961;0.977;0.807;0.961	P;P;P;P	0.57548	0.67;0.823;0.632;0.67	T	0.60581	-0.7235	10	0.87932	D	0	.	18.03	0.89281	0.0:0.0:1.0:0.0	.	6;6;6;6	B9EGH5;Q00722-2;Q9BVT6;Q00722	.;.;.;PLCB2_HUMAN	H	6	ENSP00000260402:P6H;ENSP00000411991:P6H;ENSP00000444652:P6H	ENSP00000260402:P6H	P	-	2	0	PLCB2	38387149	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	4.530000	0.60595	2.602000	0.87976	0.455000	0.32223	CCT		0.607	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			4	36	1	0	0.000602214	1	0.000636035	4	36					T	40599857	G	T	40599857	3	4	48	1	0	0	0	0	1	0	0	0	12037	1000	35	5	3668	5	PLCB2	15	40599857	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1833419	40599857	61931535	3418	7886										
BAHD1	22893	broad.mit.edu	37	chr15	40754371	40754371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgcaaggagcaaggctgccCgcaggcctagccaccccaag	12	16	0	0	rs560381001	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:40754371C>T	ENST00000416165.1	+	3	1764	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	BAHD1_ENST00000560846.1_Missense_Mutation_p.R565C|RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000561234.1_Missense_Mutation_p.R564C	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	565	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)		CAAGGCTGCCCGCAGGCCTAG	0.692													c|||	3	0.000599042	0	0	5008	,	,		14765	0		0	False		,,,				2504	0.0031					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.(1690-1692)Cgc>Tgc		bromo adjacent homology domain containing 1							45	48	47					15																	40754371		2202	4299	6501	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.chr15:40754371C>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.1693C>T	15.37:g.40754371C>T	ENSP00000396976:p.Arg565Cys		Somatic				BAHD1_ENST00000416165.1_Missense_Mutation_p.R565C|BAHD1_ENST00000560846.1_Missense_Mutation_p.R565C	p.R564C			WXS	Illumina GAIIx	Phase_I	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	3	1949	+		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)	565			Arg-rich.		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.1690C>T	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	9.909	1.209086	0.22205	.	.	ENSG00000140320	ENST00000416165	T	0.19105	2.17	5.83	3.75	0.43078	.	0.483471	0.24345	N	0.039327	T	0.08891	0.0220	N	0.08118	0	0.29018	N	0.886441	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.08249	-1.0731	10	0.51188	T	0.08	-10.0184	2.5848	0.04828	0.2819:0.443:0.1793:0.0959	.	565;565;564	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	C	565	ENSP00000396976:R565C	ENSP00000396976:R565C	R	+	1	0	BAHD1	38541663	0.012000	0.17670	1.000000	0.80357	0.389000	0.30415	0.523000	0.22925	1.407000	0.46875	0.585000	0.79938	CGC		0.692	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		39	59	0	0	0	1	0	39	59					T	40754371	C	T	40754371	3	4	48	1	0	0	0	0	1	0	0	0	1297	652	23	1	1699	1	BAHD1	15	40754371	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	154514	40754371	61777021	3419	7887										
NDUFAF1	51103	broad.mit.edu	37	chr15	41680707	41680707	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcgattagagaagaaaaatTtggaaaaaggaatctgaaag	10	3	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:41680707T>C	ENST00000260361.4	-	4	1154	c.773A>G	c.(772-774)aAa>aGa	p.K258R		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	258					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		GAAGAAAAATTTGGAAAAAGG	0.343																																						ENST00000260361.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(772-774)aAa>aGa		NADH dehydrogenase (ubiquinone) complex I, assembly factor 1							51	54	53					15																	41680707		2203	4300	6503	SO:0001583	missense	51103				mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding	g.chr15:41680707T>C	AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"Mitochondrial respiratory chain complex assembly factors"	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.773A>G	15.37:g.41680707T>C	ENSP00000260361:p.Lys258Arg		Somatic					p.K258R	NM_016013.3	NP_057097.2	WXS	Illumina GAIIx	Phase_I	Q9Y375	CIA30_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)	4	1154	-		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	258					Q9BVZ5	Missense_Mutation	SNP	ENST00000260361.4	37	c.773A>G	CCDS10075.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.289848	0.80914	.	.	ENSG00000137806	ENST00000260361	T	0.77489	-1.1	5.43	4.28	0.50868	NADH:ubiquinone oxidoreductase intermediate-associated protein 30 (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.85440	0.5697	M	0.68952	2.095	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.84958	0.0875	10	0.52906	T	0.07	.	11.6985	0.51556	0.1326:0.0:0.0:0.8674	.	258	Q9Y375	CIA30_HUMAN	R	258	ENSP00000260361:K258R	ENSP00000260361:K258R	K	-	2	0	NDUFAF1	39467999	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.523000	0.81856	0.875000	0.35847	0.455000	0.32223	AAA		0.343	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2	NM_016013		11	26	0	0	0	1	0	11	26					C	41680707	T	C	41680707	3	2	48	1	0	0	0	0	1	0	0	0	10283	1841	64	4	218	4	NDUFAF1	15	41680707	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	926336	41680707	60850685	3420	7888										
MGA	23269	broad.mit.edu	37	chr15	42040968	42040968	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgtctcaaacacacaactTcagggacatcggatggtctt	8	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42040968T>G	ENST00000570161.1	+	15	5346	c.5346T>G	c.(5344-5346)ctT>ctG	p.L1782L	MGA_ENST00000545763.1_Silent_p.L1573L|MGA_ENST00000566586.1_Silent_p.L1573L|MGA_ENST00000219905.7_Silent_p.L1782L|MGA_ENST00000389936.4_Intron			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACACACAACTTCAGGGACATC	0.488																																						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.(5344-5346)ctT>ctG		MGA, MAX dimerization protein							117	110	112					15																	42040968		1982	4175	6157	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42040968T>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.5346T>G	15.37:g.42040968T>G			Somatic				MGA_ENST00000545763.1_Silent_p.L1573L|MGA_ENST00000566586.1_Silent_p.L1573L|MGA_ENST00000389936.4_Intron|MGA_ENST00000570161.1_Silent_p.L1782L	p.L1782L	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)	16	5527	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1763					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.5346T>G	CCDS55959.1																																																																																				0.488	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		12	46	0	0	0	1	0	12	46					G	42040968	T	G	42040968	2	3	48	1	0	0	0	0	0	0	0	1	9549	1770	62	4		4	MGA	15	42040968	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	360261	42040968	60490424	3421	7889										
JMJD7-PLA2G4B	100137049	broad.mit.edu	37	chr15	42136685	42136685	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagatcccagtggtagctaTtatggccactggtggtggga	14	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42136685T>G	ENST00000452633.1	+	13	1248	c.896T>G	c.(895-897)aTt>aGt	p.I299S	PLA2G4B_ENST00000542534.2_Missense_Mutation_p.I530S|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.I530S|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.I299S|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.I530S			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	299	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GTGGTAGCTATTATGGCCACT	0.572																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(1588-1590)aTt>aGt									141	142	141					15																	42136685		2203	4300	6503	SO:0001583	missense	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42136685T>G	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.896T>G	15.37:g.42136685T>G	ENSP00000396045:p.Ile299Ser		Somatic				JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.I299S|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.I299S|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.I530S	p.I530S	NM_005090.3	NP_005081.1	WXS	Illumina GAIIx	Phase_I	P0C869	PA24B_HUMAN			17	1598	+			299			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.1589T>G	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	15.74	2.923984	0.52653	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.05925	3.37;3.37;3.37;3.37	5.33	5.33	0.75918	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.478165	0.19229	N	0.119461	T	0.13072	0.0317	M	0.76838	2.35	0.09310	N	0.999999	B;B;B	0.30361	0.107;0.039;0.277	B;B;B	0.32289	0.138;0.086;0.143	T	0.06588	-1.0818	10	0.87932	D	0	-21.1506	14.5832	0.68305	0.0:0.0:0.0:1.0	.	299;530;530	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	S	530;530;299;299	ENSP00000371886:I530S;ENSP00000342785:I530S;ENSP00000416610:I299S;ENSP00000396045:I299S	ENSP00000342785:I530S	I	+	2	0	JMJD7-PLA2G4B;PLA2G4B	39923977	0.893000	0.30496	0.022000	0.16811	0.915000	0.54546	6.459000	0.73513	2.154000	0.67381	0.459000	0.35465	ATT		0.572	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		14	179	0	0	0	1	0	14	179					G	42136685	T	G	42136685	3	3	48	1	0	0	0	0	1	0	0	0	7964	1493	52	4	1655	4	JMJD7-PLA2G4B	15	42136685	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	95717	42136685	60394707	3422	7890										
SPTBN5	51332	broad.mit.edu	37	chr15	42143119	42143119	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacggtgctgcaaacaggatCtctgccccactggtcagcct	11	14	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42143119C>A	ENST00000320955.6	-	66	11081	c.10854G>T	c.(10852-10854)gaG>gaT	p.E3618D	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3618	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		CAAACAGGATCTCTGCCCCAC	0.672																																						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.(10852-10854)gaG>gaT		spectrin, beta, non-erythrocytic 5							24	30	28					15																	42143119		2165	4269	6434	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42143119C>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10854G>T	15.37:g.42143119C>A	ENSP00000317790:p.Glu3618Asp		Somatic					p.E3618D	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)	66	11081	-		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)	3618			PH.			Missense_Mutation	SNP	ENST00000320955.6	37	c.10854G>T		.	.	.	.	.	.	.	.	.	.	.	10.78	1.446298	0.25987	.	.	ENSG00000137877	ENST00000320955	T	0.36520	1.25	3.12	-2.68	0.06041	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.494482	0.17041	N	0.189317	T	0.30727	0.0774	M	0.80616	2.505	0.09310	N	1	B	0.17667	0.023	B	0.12837	0.008	T	0.39583	-0.9607	10	0.87932	D	0	.	0.8539	0.01178	0.3054:0.3481:0.1496:0.1969	.	3618	Q9NRC6	SPTN5_HUMAN	D	3618	ENSP00000317790:E3618D	ENSP00000317790:E3618D	E	-	3	2	SPTBN5	39930411	0.025000	0.19082	0.000000	0.03702	0.027000	0.11550	0.024000	0.13555	-0.612000	0.05701	0.561000	0.74099	GAG		0.672	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		11	11	1	0	3.07112e-06	1	3.42433e-06	11	11					A	42143119	C	A	42143119	3	1	48	1	0	0	0	0	1	0	0	0	15137	912	32	2	182	2	SPTBN5	15	42143119	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	6434	42143119	60388273	3423	7891										
PLA2G4E	123745	broad.mit.edu	37	chr15	42275988	42275988	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccttcaggcgcttcttcttCtccactgcgagccgcagagc	9	17	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42275988C>A	ENST00000399518.3	-	20	3057	c.2571G>T	c.(2569-2571)gaG>gaT	p.E857D	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.E828D|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	845					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)		GCTTCTTCTTCTCCACTGCGA	0.562																																						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.(2569-2571)gaG>gaT		phospholipase A2, group IVE							40	40	40					15																	42275988		1898	4107	6005	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42275988C>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.2571G>T	15.37:g.42275988C>A	ENSP00000382434:p.Glu857Asp		Somatic				CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.E828D	p.E857D	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)	20	3057	-		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)	845					Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	c.2571G>T	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555610	0.45487	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.04551	3.6;3.6	5.56	4.45	0.53987	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (1);	0.136202	0.52532	D	0.000073	T	0.06188	0.0160	L	0.50333	1.59	0.27280	N	0.958123	P;B	0.45672	0.864;0.047	B;B	0.40825	0.341;0.015	T	0.25293	-1.0136	10	0.39692	T	0.17	-23.3484	11.0929	0.48125	0.0:0.8593:0.0:0.1407	.	828;845	C9JK77;Q3MJ16	.;PA24E_HUMAN	D	857;828	ENSP00000382434:E857D;ENSP00000413897:E828D	ENSP00000382434:E857D	E	-	3	2	PLA2G4E	40063280	0.995000	0.38212	1.000000	0.80357	0.681000	0.39784	0.150000	0.16263	2.608000	0.88229	0.655000	0.94253	GAG		0.562	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		10	11	1	0	2.17888e-05	1	2.39107e-05	10	11					A	42275988	C	A	42275988	3	1	48	1	0	0	0	0	1	0	0	0	12014	912	32	2	39	2	PLA2G4E	15	42275988	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	132869	42275988	60255404	3424	7892										
ZFP106	64397	broad.mit.edu	37	chr15	42742156	42742156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcgggcactattgaggtttgGctcaggaaggtgtactccag	15	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42742156G>A	ENST00000263805.4	-	2	2571	c.2245C>T	c.(2245-2247)Cca>Tca	p.P749S	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	749					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)	p.P749T(1)									TTGAGGTTTGGCTCAGGAAGG	0.512																																						ENST00000263805.4																			1	Substitution - Missense(1)	p.P749T(1)	endometrium(1)								c.(2245-2247)Cca>Tca		zinc finger protein 106							153	143	146					15																	42742156		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42742156G>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2245C>T	15.37:g.42742156G>A	ENSP00000263805:p.Pro749Ser		Somatic				ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.P749S	NM_022473.1	NP_071918.1	WXS	Illumina GAIIx	Phase_I					2	2571	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.2245C>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532497	0.85812	.	.	ENSG00000103994	ENST00000263805	T	0.33216	1.42	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	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	0.57051	-0.7877	10	0.87932	D	0	-14.836	20.3226	0.98684	0.0:0.0:1.0:0.0	.	532;749	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	S	749	ENSP00000263805:P749S	ENSP00000263805:P749S	P	-	1	0	ZFP106	40529448	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.367000	0.97148	2.805000	0.96524	0.650000	0.86243	CCA		0.512	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		26	89	0	0	0	1	0	26	89					A	42742156	G	A	42742156	3	1	48	1	0	0	0	0	1	0	0	0	17652	1203	42	3	3478	3	ZFP106	15	42742156	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	466168	42742156	59789236	3425	7893										
ZFP106	64397	broad.mit.edu	37	chr15	42742690	42742690	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaagaccctttttcagattCttctacatttctacttgctt	3	11	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42742690C>A	ENST00000263805.4	-	2	2037	c.1711G>T	c.(1711-1713)Gaa>Taa	p.E571*	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	571					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)										TTTTCAGATTCTTCTACATTT	0.393																																						ENST00000263805.4																			0											c.(1711-1713)Gaa>Taa		zinc finger protein 106							104	104	104					15																	42742690		2203	4299	6502	SO:0001587	stop_gained	64397							g.chr15:42742690C>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1711G>T	15.37:g.42742690C>A	ENSP00000263805:p.Glu571*		Somatic				ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.E571*	NM_022473.1	NP_071918.1	WXS	Illumina GAIIx	Phase_I					2	2037	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Nonsense_Mutation	SNP	ENST00000263805.4	37	c.1711G>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	39	7.403560	0.98262	.	.	ENSG00000103994	ENST00000263805	.	.	.	5.01	5.01	0.66863	.	0.134283	0.50627	D	0.000112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-9.3692	18.8525	0.92238	0.0:1.0:0.0:0.0	.	.	.	.	X	571	.	ENSP00000263805:E571X	E	-	1	0	ZFP106	40529982	0.987000	0.35691	1.000000	0.80357	0.987000	0.75469	3.365000	0.52335	2.748000	0.94277	0.637000	0.83480	GAA		0.393	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		29	74	1	0	1.5548e-18	1	2.10666e-18	29	74					A	42742690	C	A	42742690	4	1	48	1	0	0	0	0	0	1	0	0	17652	922	32	2	4012	2	ZFP106	15	42742690	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	534	42742690	59788702	3426	7894										
EPB42	2038	broad.mit.edu	37	chr15	43503726	43503726	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctcattcttcaggaacacaGcatcctctggtgagaggtgg	11	11	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:43503726G>T	ENST00000441366.2	-	4	662	c.437C>A	c.(436-438)gCt>gAt	p.A146D	EPB42_ENST00000300215.3_Missense_Mutation_p.A176D|EPB42_ENST00000540029.1_Missense_Mutation_p.A68D	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	146					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)		CAGGAACACAGCATCCTCTGG	0.572																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(526-528)gCt>gAt		erythrocyte membrane protein band 4.2							136	108	118					15																	43503726		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.chr15:43503726G>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.437C>A	15.37:g.43503726G>T	ENSP00000396616:p.Ala146Asp		Somatic				EPB42_ENST00000441366.2_Missense_Mutation_p.A146D|EPB42_ENST00000540029.1_Missense_Mutation_p.A68D	p.A176D			WXS	Illumina GAIIx	Phase_I	P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	4	984	-		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)	146					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.527C>A	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317446	0.23908	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	D;D;D	0.88741	-2.42;-1.56;-2.42	5.84	2.85	0.33270	Immunoglobulin-like fold (1);	0.607140	0.17845	N	0.160045	D	0.85035	0.5605	L	0.39245	1.2	0.28383	N	0.919467	B;D;D	0.59357	0.012;0.985;0.974	B;P;P	0.48982	0.022;0.597;0.548	T	0.76512	-0.2932	10	0.30854	T	0.27	-0.2539	7.556	0.27824	0.0781:0.0:0.6241:0.2978	.	68;176;146	F5H563;P16452-2;P16452	.;.;EPB42_HUMAN	D	176;68;146;146	ENSP00000300215:A176D;ENSP00000444699:A68D;ENSP00000396616:A146D	ENSP00000300215:A176D	A	-	2	0	EPB42	41291018	0.000000	0.05858	0.991000	0.47740	0.600000	0.36913	0.554000	0.23407	0.755000	0.32990	0.655000	0.94253	GCT		0.572	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		13	64	1	0	2.31682e-05	1	2.54096e-05	13	64					T	43503726	G	T	43503726	3	4	48	1	0	0	0	0	1	0	0	0	5160	971	34	5	1678	5	EPB42	15	43503726	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	761036	43503726	59027666	3427	7895										
ADAL	161823	broad.mit.edu	37	chr15	43628012	43628012	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gattgacaagggaaagaaaaGaactttggaagagtaagtgt	13	2	0	4	rs201697344		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:43628012G>T	ENST00000562188.1	+	2	198	c.182G>T	c.(181-183)aGa>aTa	p.R61I	ADAL_ENST00000428046.3_Missense_Mutation_p.R61I|ADAL_ENST00000389651.4_Missense_Mutation_p.R61I|ADAL_ENST00000422466.2_Missense_Mutation_p.R61I			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	61					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GGAAAGAAAAGAACTTTGGAA	0.363																																						ENST00000422466.2																			0				endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7						c.(181-183)aGa>aTa		adenosine deaminase-like							116	116	116					15																	43628012		2201	4299	6500	SO:0001583	missense	161823				adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding	g.chr15:43628012G>T		CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.182G>T	15.37:g.43628012G>T	ENSP00000456242:p.Arg61Ile		Somatic				ADAL_ENST00000428046.3_Missense_Mutation_p.R61I|ADAL_ENST00000562188.1_Missense_Mutation_p.R61I|ADAL_ENST00000389651.4_Missense_Mutation_p.R61I	p.R61I			WXS	Illumina GAIIx	Phase_I	Q6DHV7	ADAL_HUMAN		GBM - Glioblastoma multiforme(94;9.31e-07)	5	756	+		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	61					A6NHZ3|B4DQM8	Missense_Mutation	SNP	ENST00000562188.1	37	c.182G>T		.	.	.	.	.	.	.	.	.	.	G	28.1	4.886977	0.91814	.	.	ENSG00000168803	ENST00000422466;ENST00000428046;ENST00000389651	D;D;D	0.83163	-1.69;-1.69;-1.69	5.5	5.5	0.81552	.	0.043052	0.85682	D	0.000000	D	0.89501	0.6733	M	0.66297	2.02	0.80722	D	1	P;D	0.69078	0.774;0.997	P;D	0.67725	0.593;0.953	D	0.88403	0.3016	10	0.44086	T	0.13	-27.2315	16.94	0.86215	0.0:0.0:1.0:0.0	.	61;61	B4DQM8;Q6DHV7-2	.;.	I	61	ENSP00000398744:R61I;ENSP00000413074:R61I;ENSP00000374302:R61I	ENSP00000374302:R61I	R	+	2	0	ADAL	41415304	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.473000	0.81007	2.861000	0.98227	0.655000	0.94253	AGA		0.363	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432960.1	XM_091156		32	60	1	0	6.53348e-20	1	8.92126e-20	32	60					T	43628012	G	T	43628012	3	4	48	1	0	0	0	0	1	0	0	0	233	942	33	2	188	2	ADAL	15	43628012	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	124286	43628012	58903380	3428	7896										
STRC	161497	broad.mit.edu	37	chr15	43892823	43892823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaagtaggtgggccagaacCtccagttgttcctcagagca	11	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:43892823C>A	ENST00000450892.2	-	26	4979	c.4902G>T	c.(4900-4902)gaG>gaT	p.E1634D	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Missense_Mutation_p.E861D	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1634					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)		GGGCCAGAACCTCCAGTTGTT	0.542																																						ENST00000450892.2																			0				skin(4)	4						c.(4900-4902)gaG>gaT		stereocilin							59	62	61					15																	43892823		2200	4297	6497	SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43892823C>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.4902G>T	15.37:g.43892823C>A	ENSP00000401513:p.Glu1634Asp		Somatic				STRC_ENST00000541030.1_Missense_Mutation_p.E861D	p.E1634D	NM_153700.2	NP_714544.1	WXS	Illumina GAIIx	Phase_I	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	26	4979	-		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)	1634						Missense_Mutation	SNP	ENST00000450892.2	37	c.4902G>T	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835230	0.50951	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.79247	-1.25;-1.22	4.75	1.71	0.24356	.	0.224794	0.27725	N	0.018120	T	0.74045	0.3665	L	0.27053	0.805	0.29436	N	0.859508	P;D	0.76494	0.508;0.999	B;D	0.72982	0.372;0.979	T	0.65586	-0.6132	10	0.16420	T	0.52	-13.6148	5.9602	0.19295	0.0:0.6432:0.0:0.3568	.	861;1634	F5GXA4;Q7RTU9	.;STRC_HUMAN	D	1634;1634;861	ENSP00000401513:E1634D;ENSP00000440413:E861D	ENSP00000299992:E1634D	E	-	3	2	STRC	41680115	0.996000	0.38824	1.000000	0.80357	0.913000	0.54294	0.772000	0.26647	0.266000	0.21894	0.313000	0.20887	GAG		0.542	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		17	77	1	0	3.45872e-05	1	3.78815e-05	17	77					A	43892823	C	A	43892823	3	1	48	1	0	0	0	0	1	0	0	0	15343	680	24	5	441	5	STRC	15	43892823	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	264811	43892823	58638569	3429	7897										
FRMD5	84978	broad.mit.edu	37	chr15	44180393	44180393	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgtagaaggcttggttctcGattccacatttccagaggtg	11	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44180393G>A	ENST00000417257.1	-	10	1040	c.864C>T	c.(862-864)atC>atT	p.I288I	FRMD5_ENST00000484674.1_Silent_p.I194I|FRMD5_ENST00000402883.1_Silent_p.I288I	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	288	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)		CTTGGTTCTCGATTCCACATT	0.448																																						ENST00000417257.1																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(862-864)atC>atT		FERM domain containing 5							130	117	121					15																	44180393		2198	4298	6496	SO:0001819	synonymous_variant	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44180393G>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.864C>T	15.37:g.44180393G>A			Somatic				FRMD5_ENST00000402883.1_Silent_p.I288I|FRMD5_ENST00000484674.1_Silent_p.I194I	p.I288I	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)	10	1040	-		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)	288			FERM.		Q8NBG4	Silent	SNP	ENST00000417257.1	37	c.864C>T	CCDS10107.2																																																																																				0.448	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		17	33	0	0	0	1	0	17	33					A	44180393	G	A	44180393	2	1	48	1	0	0	0	0	0	0	0	1	6061	1048	37	1		1	FRMD5	15	44180393	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	287570	44180393	58350999	3430	7898										
CASC4	113201	broad.mit.edu	37	chr15	44673090	44673090	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttaattccaggctcaaacTtggacagtgaacccagaatt	8	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44673090T>G	ENST00000345795.2	+	8	1258	c.988T>G	c.(988-990)Ttg>Gtg	p.L330V	CASC4_ENST00000299957.6_Missense_Mutation_p.L330V|CASC4_ENST00000360824.3_3'UTR	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	330						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)		AGGCTCAAACTTGGACAGTGA	0.393																																						ENST00000299957.6																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17						c.(988-990)Ttg>Gtg		cancer susceptibility candidate 4							76	70	72					15																	44673090		2198	4298	6496	SO:0001583	missense	113201					integral to membrane		g.chr15:44673090T>G	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.988T>G	15.37:g.44673090T>G	ENSP00000335063:p.Leu330Val		Somatic				CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000345795.2_Missense_Mutation_p.L330V	p.L330V	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)	8	1287	+		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)	330					B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000345795.2	37	c.988T>G	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.117605	0.37339	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	.	.	.	4.92	-0.939	0.10408	.	0.909923	0.09559	N	0.785811	T	0.30510	0.0767	L	0.28274	0.84	0.80722	D	1	B;B;B	0.19200	0.013;0.034;0.016	B;B;B	0.24394	0.007;0.053;0.015	T	0.31110	-0.9955	9	0.13853	T	0.58	.	1.1823	0.01847	0.306:0.0911:0.1578:0.4451	.	330;330;330	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	V	330;330;309	.	ENSP00000299957:L330V	L	+	1	2	CASC4	42460382	0.014000	0.17966	0.994000	0.49952	0.944000	0.59088	-0.749000	0.04813	-0.107000	0.12088	0.397000	0.26171	TTG		0.393	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		14	35	0	0	0	1	0	14	35					G	44673090	T	G	44673090	3	3	48	1	0	0	0	0	1	0	0	0	2664	1606	56	4	1018	4	CASC4	15	44673090	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	492697	44673090	57858302	3431	7899										
CTDSPL2	51496	broad.mit.edu	37	chr15	44789312	44789312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgaaaacaagaagcacaccGgaattctccctagttttaga	7	9	1	3	rs376913959		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44789312G>A	ENST00000260327.4	+	7	1421	c.858G>A	c.(856-858)ccG>ccA	p.P286P	CTDSPL2_ENST00000558966.1_Silent_p.P286P|CTDSPL2_ENST00000558373.1_Silent_p.P214P|CTDSPL2_ENST00000396780.1_Silent_p.P214P|CTDSPL2_ENST00000561189.1_3'UTR	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	286	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.						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)		GAAGCACACCGGAATTCTCCC	0.358																																						ENST00000260327.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13						c.(856-858)ccG>ccA		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2		G		0,4396		0,0,2198	63	64	64		858	1.6	1	15		64	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	CTDSPL2	NM_016396.2		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		286/467	44789312	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	51496						phosphoprotein phosphatase activity	g.chr15:44789312G>A	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.858G>A	15.37:g.44789312G>A			Somatic				CTDSPL2_ENST00000558373.1_Silent_p.P214P|CTDSPL2_ENST00000561189.1_3'UTR|CTDSPL2_ENST00000396780.1_Silent_p.P214P|CTDSPL2_ENST00000558966.1_Silent_p.P286P	p.P286P	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)	7	1421	+		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)	286			FCP1 homology.		Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Silent	SNP	ENST00000260327.4	37	c.858G>A	CCDS10110.1																																																																																				0.358	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396		16	43	0	0	0	1	0	16	43					A	44789312	G	A	44789312	2	1	48	1	0	0	0	0	0	0	0	1	4008	1103	39	1		1	CTDSPL2	15	44789312	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	116222	44789312	57742080	3432	7900										
CTDSPL2	51496	broad.mit.edu	37	chr15	44811443	44811443	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaatattcttggaagagatCtttcaaaaactataataatt	4	4	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44811443C>A	ENST00000260327.4	+	11	1752	c.1189C>A	c.(1189-1191)Ctt>Att	p.L397I	CTDSPL2_ENST00000558966.1_Missense_Mutation_p.L397I|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.L325I|CTD-2329K10.1_ENST00000561324.1_RNA|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.L325I	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	397	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.						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)		TGGAAGAGATCTTTCAAAAAC	0.313																																						ENST00000260327.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13						c.(1189-1191)Ctt>Att		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2							48	54	52					15																	44811443		2196	4292	6488	SO:0001583	missense	51496						phosphoprotein phosphatase activity	g.chr15:44811443C>A	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.1189C>A	15.37:g.44811443C>A	ENSP00000260327:p.Leu397Ile		Somatic				CTDSPL2_ENST00000558373.1_Missense_Mutation_p.L325I|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.L325I|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.L397I	p.L397I	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)	11	1752	+		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)	397			FCP1 homology.		Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	ENST00000260327.4	37	c.1189C>A	CCDS10110.1	.	.	.	.	.	.	.	.	.	.	C	34	5.329502	0.95733	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	T;T	0.25749	1.78;1.78	5.98	5.98	0.97165	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.63058	0.2479	M	0.91459	3.21	0.80722	D	1	D;D	0.63880	0.979;0.993	P;D	0.76575	0.867;0.988	T	0.68777	-0.5319	10	0.66056	D	0.02	-8.9393	20.4561	0.99145	0.0:1.0:0.0:0.0	.	325;397	Q05D32-2;Q05D32	.;CTSL2_HUMAN	I	397;325	ENSP00000260327:L397I;ENSP00000380000:L325I	ENSP00000260327:L397I	L	+	1	0	CTDSPL2	42598735	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.014000	0.70784	2.843000	0.97960	0.650000	0.86243	CTT		0.313	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396		17	29	1	0	3.52763e-06	1	3.92945e-06	17	29					A	44811443	C	A	44811443	3	1	48	1	0	0	0	0	1	0	0	0	4008	913	32	2	1227	2	CTDSPL2	15	44811443	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	22131	44811443	57719949	3433	7901										
SPG11	80208	broad.mit.edu	37	chr15	44943956	44943956	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgatctttctgtagaacatTatattgcccatgcattatgt	6	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44943956T>G	ENST00000261866.7	-	6	1205	c.1189A>C	c.(1189-1191)Aat>Cat	p.N397H	SPG11_ENST00000535302.2_Missense_Mutation_p.N397H|SPG11_ENST00000559193.1_Missense_Mutation_p.N397H|SPG11_ENST00000427534.2_Missense_Mutation_p.N397H|SPG11_ENST00000558319.1_Missense_Mutation_p.N397H	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	397					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)		TGTAGAACATTATATTGCCCA	0.428																																						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.(1189-1191)Aat>Cat		spastic paraplegia 11 (autosomal recessive)							205	171	183					15																	44943956		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44943956T>G		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.1189A>C	15.37:g.44943956T>G	ENSP00000261866:p.Asn397His		Somatic				SPG11_ENST00000427534.2_Missense_Mutation_p.N397H|SPG11_ENST00000535302.2_Missense_Mutation_p.N397H|SPG11_ENST00000559193.1_Missense_Mutation_p.N397H|SPG11_ENST00000558319.1_Missense_Mutation_p.N397H	p.N397H	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)	6	1205	-		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)	397					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.1189A>C	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	2.034	-0.421639	0.04734	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.77358	-1.09;-0.83;-0.83	6.07	1.21	0.21127	.	1.071750	0.07133	N	0.845882	T	0.68531	0.3011	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.09377	0.002;0.003;0.004;0.004	T	0.52019	-0.8631	10	0.35671	T	0.21	.	4.8304	0.13437	0.0:0.215:0.2871:0.4979	.	397;397;397;397	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	H	397	ENSP00000261866:N397H;ENSP00000445278:N397H;ENSP00000396110:N397H	ENSP00000261866:N397H	N	-	1	0	SPG11	42731248	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.086000	0.14935	0.166000	0.19597	-0.291000	0.09656	AAT		0.428	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			34	54	0	0	0	1	0	34	54					G	44943956	T	G	44943956	3	3	48	1	0	0	0	0	1	0	0	0	15056	1754	61	4	6282	4	SPG11	15	44943956	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	132513	44943956	57587436	3434	7902										
SEMA6D	80031	broad.mit.edu	37	chr15	48052094	48052094	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgaaccccttaatactgtCgactatcactgtaagtcgtc	7	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48052094C>T	ENST00000316364.5	+	2	538	c.99C>T	c.(97-99)gtC>gtT	p.V33V	SEMA6D_ENST00000537942.1_Silent_p.V33V|SEMA6D_ENST00000389425.3_Silent_p.V33V|SEMA6D_ENST00000558014.1_Silent_p.V33V|SEMA6D_ENST00000536845.2_Silent_p.V33V|SEMA6D_ENST00000389433.2_Silent_p.V33V|SEMA6D_ENST00000389432.2_Silent_p.V33V|SEMA6D_ENST00000355997.3_Silent_p.V33V|SEMA6D_ENST00000358066.4_Silent_p.V33V|SEMA6D_ENST00000389428.3_Silent_p.V33V|SEMA6D_ENST00000558816.1_Silent_p.V33V|SEMA6D_ENST00000354744.4_Silent_p.V33V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	33	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)		TTAATACTGTCGACTATCACT	0.438																																						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.(97-99)gtC>gtT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							155	122	133					15																	48052094		2198	4297	6495	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48052094C>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.99C>T	15.37:g.48052094C>T			Somatic				SEMA6D_ENST00000389433.2_Silent_p.V33V|SEMA6D_ENST00000537942.1_Silent_p.V33V|SEMA6D_ENST00000358066.4_Silent_p.V33V|SEMA6D_ENST00000536845.2_Silent_p.V33V|SEMA6D_ENST00000389432.2_Silent_p.V33V|SEMA6D_ENST00000354744.4_Silent_p.V33V|SEMA6D_ENST00000355997.3_Silent_p.V33V|SEMA6D_ENST00000558014.1_Silent_p.V33V|SEMA6D_ENST00000389428.3_Silent_p.V33V|SEMA6D_ENST00000558816.1_Silent_p.V33V|SEMA6D_ENST00000389425.3_Silent_p.V33V	p.V33V	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)	2	538	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	33			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.99C>T	CCDS32225.1																																																																																				0.438	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		14	22	0	0	0	1	0	14	22					T	48052094	C	T	48052094	2	4	48	1	0	0	0	0	0	0	0	1	14057	871	31	1		1	SEMA6D	15	48052094	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3108138	48052094	54479298	3435	7903										
SEMA6D	80031	broad.mit.edu	37	chr15	48060931	48060931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgattttactgatcctttatCgggtatcccaaagggtaagg	10	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48060931C>T	ENST00000316364.5	+	18	2358	c.1919C>T	c.(1918-1920)tCg>tTg	p.S640L	SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S640L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S621L|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000354744.4_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	640					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)		GATCCTTTATCGGGTATCCCA	0.448																																						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.(1918-1920)tCg>tTg		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							122	117	119					15																	48060931		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48060931C>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.1919C>T	15.37:g.48060931C>T	ENSP00000324857:p.Ser640Leu		Somatic				SEMA6D_ENST00000389433.2_Missense_Mutation_p.S621L|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S640L|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000558816.1_Intron	p.S640L	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)	18	2358	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	640					A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1919C>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.796190	0.70567	.	.	ENSG00000137872	ENST00000536845;ENST00000316364;ENST00000389433	T;T;T	0.43294	0.95;0.95;0.95	5.49	5.49	0.81192	.	0.348274	0.30850	N	0.008753	T	0.26846	0.0657	N	0.14661	0.345	0.80722	D	1	P	0.35844	0.524	B	0.20184	0.028	T	0.09487	-1.0672	10	0.46703	T	0.11	.	19.7433	0.96241	0.0:1.0:0.0:0.0	.	640	Q8NFY4	SEM6D_HUMAN	L	640;640;621	ENSP00000446152:S640L;ENSP00000324857:S640L;ENSP00000374084:S621L	ENSP00000324857:S640L	S	+	2	0	SEMA6D	45848223	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.733000	0.93635	0.655000	0.94253	TCG		0.448	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		4	74	0	0	0	1	0	4	74					T	48060931	C	T	48060931	3	4	48	1	0	0	0	0	1	0	0	0	14057	893	31	1	2028	1	SEMA6D	15	48060931	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	8837	48060931	54470461	3436	7904										
SLC24A5	283652	broad.mit.edu	37	chr15	48434526	48434526	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggaattattggaaataataAaataaggggctgtggaggtt	13	1	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48434526A>C	ENST00000341459.3	+	9	1554	c.1481A>C	c.(1480-1482)aAa>aCa	p.K494T	MYEF2_ENST00000267836.6_3'UTR|MYEF2_ENST00000324324.7_3'UTR|SLC24A5_ENST00000449382.2_Missense_Mutation_p.K434T	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	494					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)		GGAAATAATAAAATAAGGGGC	0.348																																						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.(1480-1482)aAa>aCa		solute carrier family 24 (sodium/potassium/calcium exchanger), member 5							40	43	42					15																	48434526		2198	4294	6492	SO:0001583	missense	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48434526A>C	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.1481A>C	15.37:g.48434526A>C	ENSP00000341550:p.Lys494Thr		Somatic				SLC24A5_ENST00000449382.2_Missense_Mutation_p.K434T|MYEF2_ENST00000267836.6_3'UTR|MYEF2_ENST00000324324.7_3'UTR	p.K494T	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)	9	1554	+		all_lung(180;0.00217)	494					A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	c.1481A>C	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.664569	0.29604	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.75050	-0.9;-0.88	5.65	3.36	0.38483	.	0.371804	0.33075	N	0.005316	T	0.51787	0.1695	N	0.22421	0.69	0.80722	D	1	P;B	0.34462	0.454;0.201	B;B	0.24541	0.054;0.054	T	0.48670	-0.9015	10	0.37606	T	0.19	.	5.4176	0.16382	0.5359:0.2901:0.174:0.0	.	434;494	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	T	494;434	ENSP00000341550:K494T;ENSP00000389966:K434T	ENSP00000341550:K494T	K	+	2	0	SLC24A5	46221818	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.345000	0.52182	1.081000	0.41110	0.528000	0.53228	AAA		0.348	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		5	29	0	0	0	1	0	5	29					C	48434526	A	C	48434526	3	2	48	1	0	0	0	0	1	0	0	0	14484	14	1	4	1515	4	SLC24A5	15	48434526	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	373595	48434526	54096866	3437	7905										
SLC12A1	6557	broad.mit.edu	37	chr15	48580301	48580301	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcaaccagaaactggtggaAgccagcactcaatttaaaaa	7	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48580301A>C	ENST00000558405.1	+	21	2705	c.2691A>C	c.(2689-2691)gaA>gaC	p.E897D	SLC12A1_ENST00000396577.3_Missense_Mutation_p.E897D|SLC12A1_ENST00000380993.3_Missense_Mutation_p.E897D			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	897					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)			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)	AACTGGTGGAAGCCAGCACTC	0.403																																						ENST00000396577.3																			0				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.(2689-2691)gaA>gaC		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)						69	65	66					15																	48580301		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48580301A>C		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.2691A>C	15.37:g.48580301A>C	ENSP00000453409:p.Glu897Asp		Somatic				SLC12A1_ENST00000380993.3_Missense_Mutation_p.E897D|SLC12A1_ENST00000558405.1_Missense_Mutation_p.E897D	p.E897D	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	2906	+		all_lung(180;0.00219)	897					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.2691A>C	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177295	0.38413	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.83250	-1.7;-1.7	5.87	2.35	0.29111	.	0.000000	0.85682	D	0.000000	T	0.67562	0.2906	N	0.16833	0.445	0.49687	D	0.99981	B;B	0.23591	0.088;0.02	B;B	0.21708	0.036;0.02	T	0.57763	-0.7755	10	0.30078	T	0.28	.	9.309	0.37891	0.7977:0.0:0.2023:0.0	.	897;897	E9PDW4;Q13621	.;S12A1_HUMAN	D	897	ENSP00000370381:E897D;ENSP00000379822:E897D	ENSP00000370381:E897D	E	+	3	2	SLC12A1	46367593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.588000	0.36633	0.576000	0.29452	0.533000	0.62120	GAA		0.403	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			6	9	0	0	0	1	0	6	9					C	48580301	A	C	48580301	3	2	48	1	0	0	0	0	1	0	0	0	14397	69	3	4	2873	4	SLC12A1	15	48580301	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	145775	48580301	53951091	3438	7906										
SLC12A1	6557	broad.mit.edu	37	chr15	48594949	48594949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttccttcatgtcattaggaGccttcccgtggcaagaaagg	10	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48594949G>A	ENST00000558405.1	+	26	3181	c.3167G>A	c.(3166-3168)aGc>aAc	p.S1056N	SLC12A1_ENST00000396577.3_Missense_Mutation_p.S1056N|SLC12A1_ENST00000380993.3_Missense_Mutation_p.S1056N			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	1056					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)			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)	GTCATTAGGAGCCTTCCCGTG	0.388																																						ENST00000396577.3																			0				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.(3166-3168)aGc>aAc		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)						100	100	100					15																	48594949		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48594949G>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.3167G>A	15.37:g.48594949G>A	ENSP00000453409:p.Ser1056Asn		Somatic				SLC12A1_ENST00000380993.3_Missense_Mutation_p.S1056N|SLC12A1_ENST00000558405.1_Missense_Mutation_p.S1056N	p.S1056N	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)	27	3382	+		all_lung(180;0.00219)	1056					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.3167G>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760573	0.89932	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.85861	-2.04;-2.04	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.90947	0.7154	L	0.50919	1.6	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.979	D	0.90778	0.4677	10	0.87932	D	0	.	20.1581	0.98126	0.0:0.0:1.0:0.0	.	1056;1056	E9PDW4;Q13621	.;S12A1_HUMAN	N	1056	ENSP00000370381:S1056N;ENSP00000379822:S1056N	ENSP00000370381:S1056N	S	+	2	0	SLC12A1	46382241	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	9.694000	0.98686	2.937000	0.99478	0.650000	0.86243	AGC		0.388	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			13	30	0	0	0	1	0	13	30					A	48594949	G	A	48594949	3	1	48	1	0	0	0	0	1	0	0	0	14397	971	34	3	3369	3	SLC12A1	15	48594949	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	14648	48594949	53936443	3439	7907										
FBN1	2200	broad.mit.edu	37	chr15	48776136	48776136	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggattatcttcacactcatcGatgtctgcaaagaataaaac	6	9	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48776136G>A	ENST00000316623.5	-	31	4172	c.3717C>T	c.(3715-3717)atC>atT	p.I1239I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1239	EGF-like 20; 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)		CACACTCATCGATGTCTGCAA	0.413																																						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.(3715-3717)atC>atT		fibrillin 1							113	91	99					15																	48776136		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.chr15:48776136G>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.3717C>T	15.37:g.48776136G>A			Somatic					p.I1239I	NM_000138.4	NP_000129.3	WXS	Illumina GAIIx	Phase_I	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	31	4172	-		all_lung(180;0.00279)	1239			EGF-like 20; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.3717C>T	CCDS32232.1																																																																																				0.413	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			14	25	0	0	0	1	0	14	25					A	48776136	G	A	48776136	2	1	48	1	0	0	0	0	0	0	0	1	5710	1048	37	1		1	FBN1	15	48776136	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	181187	48776136	53755256	3440	7908										
CEP152	22995	broad.mit.edu	37	chr15	49083511	49083511	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcaagctgtatctctctttCttttccattctgaaagagtt	5	9	5	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:49083511C>A	ENST00000380950.2	-	8	1082	c.895G>T	c.(895-897)Gaa>Taa	p.E299*	CEP152_ENST00000325747.5_Nonsense_Mutation_p.E206*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.E299*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	299					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)		ATCTCTCTTTCTTTTCCATTC	0.338																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(895-897)Gaa>Taa		centrosomal protein 152kDa							130	116	120					15																	49083511		1823	4078	5901	SO:0001587	stop_gained	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49083511C>A	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.895G>T	15.37:g.49083511C>A	ENSP00000370337:p.Glu299*		Somatic				CEP152_ENST00000399334.3_Nonsense_Mutation_p.E299*|CEP152_ENST00000325747.5_Nonsense_Mutation_p.E206*	p.E299*	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)	8	1082	-		all_lung(180;0.0428)	299					E7ER66|Q17RV1|Q6NTA0	Nonsense_Mutation	SNP	ENST00000380950.2	37	c.895G>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	39	7.531010	0.98342	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	.	.	.	5.56	4.63	0.57726	.	0.149139	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-18.0857	16.3917	0.83542	0.0:0.8682:0.1318:0.0	.	.	.	.	X	299;206;299;299	.	ENSP00000321000:E206X	E	-	1	0	CEP152	46870803	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.308000	0.72820	1.325000	0.45301	0.655000	0.94253	GAA		0.338	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		13	15	1	0	1.5842e-08	1	1.87418e-08	13	15					A	49083511	C	A	49083511	4	1	48	1	0	0	0	0	0	1	0	0	3250	922	32	2	4145	2	CEP152	15	49083511	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	307375	49083511	53447881	3441	7909										
SECISBP2L	9728	broad.mit.edu	37	chr15	49305000	49305000	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagtctttagtgtgaaaagAagctgcagtaaccactaaaa	9	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:49305000A>G	ENST00000559471.1	-	12	1839	c.1576T>C	c.(1576-1578)Tct>Cct	p.S526P	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.S481P	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	526							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GTGTGAAAAGAAGCTGCAGTA	0.348																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(1576-1578)Tct>Cct		SECIS binding protein 2-like							64	70	68					15																	49305000		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49305000A>G	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.1576T>C	15.37:g.49305000A>G	ENSP00000453854:p.Ser526Pro		Somatic				SECISBP2L_ENST00000261847.3_Missense_Mutation_p.S481P	p.S526P	NM_001193489.1	NP_001180418.1	WXS	Illumina GAIIx	Phase_I	Q93073	SBP2L_HUMAN			12	1839	-			526					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.1576T>C	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	A	4.553	0.102659	0.08731	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.70282	-0.47	5.76	-1.68	0.08212	.	0.295485	0.38005	N	0.001853	T	0.18635	0.0447	N	0.00114	-2.085	0.27064	N	0.963492	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46898	-0.9158	10	0.02654	T	1	.	2.5422	0.04729	0.1633:0.4975:0.1604:0.1788	.	526;481	Q93073;Q93073-2	SBP2L_HUMAN;.	P	481;526	ENSP00000261847:S481P	ENSP00000261847:S481P	S	-	1	0	SECISBP2L	47092292	1.000000	0.71417	0.971000	0.41717	0.934000	0.57294	1.513000	0.35823	-0.201000	0.10284	0.528000	0.53228	TCT		0.348	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		4	47	0	0	0	1	0	4	47					G	49305000	A	G	49305000	3	3	48	1	0	0	0	0	1	0	0	0	14022	246	9	4	1757	4	SECISBP2L	15	49305000	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	221489	49305000	53226392	3442	7910										
FGF7	2252	broad.mit.edu	37	chr15	49775360	49775360	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttgcagatatcatggaaaTcaggacagtggcagttggaa	12	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:49775360T>G	ENST00000267843.4	+	3	910	c.299T>G	c.(298-300)aTc>aGc	p.I100S	FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	100					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)		ATCATGGAAATCAGGACAGTG	0.373																																						ENST00000267843.4																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(298-300)aTc>aGc		fibroblast growth factor 7	Palifermin(DB00039)						90	93	92					15																	49775360		1354	2288	3642	SO:0001583	missense	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.chr15:49775360T>G	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.299T>G	15.37:g.49775360T>G	ENSP00000267843:p.Ile100Ser		Somatic				FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR	p.I100S	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)	3	910	+		all_lung(180;0.00391)	100					H0YNY5|Q6FGV5|Q96FG5	Missense_Mutation	SNP	ENST00000267843.4	37	c.299T>G	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382175	0.82792	.	.	ENSG00000140285	ENST00000267843	D	0.83673	-1.75	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.91078	0.7192	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92404	0.5932	9	0.87932	D	0	.	14.9724	0.71243	0.0:0.0:0.0:1.0	.	100	P21781	FGF7_HUMAN	S	100	ENSP00000267843:I100S	ENSP00000267843:I100S	I	+	2	0	FGF7	47562652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.817000	0.86213	1.934000	0.56057	0.528000	0.53228	ATC		0.373	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		14	44	0	0	0	1	0	14	44					G	49775360	T	G	49775360	3	3	48	1	0	0	0	0	1	0	0	0	5865	1435	50	4	305	4	FGF7	15	49775360	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	470360	49775360	52756032	3443	7911										
ATP8B4	79895	broad.mit.edu	37	chr15	50366349	50366349	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actggaacttttcattatatTcacggtcattggctttcact	6	9	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:50366349T>C	ENST00000284509.6	-	3	203	c.62A>G	c.(61-63)gAa>gGa	p.E21G	ATP8B4_ENST00000559829.1_Missense_Mutation_p.E21G	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	21						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)		TTCATTATATTCACGGTCATT	0.368																																						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.(61-63)gAa>gGa		ATPase, class I, type 8B, member 4							221	190	200					15																	50366349		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.chr15:50366349T>C	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.62A>G	15.37:g.50366349T>C	ENSP00000284509:p.Glu21Gly		Somatic				ATP8B4_ENST00000559829.1_Missense_Mutation_p.E21G	p.E21G	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)	3	203	-		all_lung(180;0.00183)	21					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.62A>G	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.719013	0.48622	.	.	ENSG00000104043	ENST00000284509	T	0.76186	-1.0	5.15	5.15	0.70609	.	1.184750	0.06579	N	0.749993	T	0.71013	0.3290	L	0.50993	1.605	0.35782	D	0.821708	B	0.31174	0.311	B	0.28991	0.097	T	0.63625	-0.6595	10	0.38643	T	0.18	.	11.3524	0.49596	0.0:0.0:0.0:1.0	.	21	Q8TF62	AT8B4_HUMAN	G	21	ENSP00000284509:E21G	ENSP00000284509:E21G	E	-	2	0	ATP8B4	48153641	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.236000	0.43052	1.942000	0.56320	0.528000	0.53228	GAA		0.368	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		17	30	0	0	0	1	0	17	30					C	50366349	T	C	50366349	3	2	48	1	0	0	0	0	1	0	0	0	1197	1783	62	4	3620	4	ATP8B4	15	50366349	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	590989	50366349	52165043	3444	7912										
USP8	9101	broad.mit.edu	37	chr15	50769684	50769684	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagccagtgcctagtataaaGaatgttccacaggtatgttc	9	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:50769684G>T	ENST00000396444.3	+	10	1544	c.1206G>T	c.(1204-1206)aaG>aaT	p.K402N	USP8_ENST00000307179.4_Missense_Mutation_p.K402N|USP8_ENST00000433963.1_Missense_Mutation_p.K402N|USP8_ENST00000425032.3_Missense_Mutation_p.K325N	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	402					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)		CTAGTATAAAGAATGTTCCAC	0.373																																						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.(1204-1206)aaG>aaT		ubiquitin specific peptidase 8							89	91	91					15																	50769684		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.chr15:50769684G>T	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1206G>T	15.37:g.50769684G>T	ENSP00000379721:p.Lys402Asn		Somatic				USP8_ENST00000396444.3_Missense_Mutation_p.K402N|USP8_ENST00000425032.3_Missense_Mutation_p.K325N|USP8_ENST00000307179.4_Missense_Mutation_p.K402N	p.K402N	NM_001128611.1	NP_001122083.1	WXS	Illumina GAIIx	Phase_I	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	11	1706	+			402					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.1206G>T	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.862064	0.51482	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.19394	2.16;2.16;2.16;2.15	4.86	1.9	0.25705	.	0.245861	0.45606	D	0.000351	T	0.20740	0.0499	L	0.29908	0.895	0.36810	D	0.885849	P;P;D	0.60160	0.455;0.455;0.987	B;B;P	0.54544	0.149;0.149;0.755	T	0.11792	-1.0573	10	0.20519	T	0.43	-11.7758	8.6076	0.33782	0.4073:0.0:0.5927:0.0	.	325;402;402	B4DKA8;P40818;A8K8N5	.;UBP8_HUMAN;.	N	402;402;402;325	ENSP00000379721:K402N;ENSP00000405537:K402N;ENSP00000302239:K402N;ENSP00000412682:K325N	ENSP00000302239:K402N	K	+	3	2	USP8	48556976	0.990000	0.36364	0.975000	0.42487	0.802000	0.45316	0.494000	0.22467	0.582000	0.29556	0.460000	0.39030	AAG		0.373	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		29	48	1	0	4.22769e-11	1	5.2466e-11	29	48					T	50769684	G	T	50769684	3	4	48	1	0	0	0	0	1	0	0	0	17104	933	33	2	1240	2	USP8	15	50769684	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	403335	50769684	51761708	3445	7913										
AP4E1	23431	broad.mit.edu	37	chr15	51201024	51201024	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggcgctgccgggactctttCtgcagaaccagcccggtggt	14	14	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:51201024C>A	ENST00000261842.5	+	1	155	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	AP4E1_ENST00000560508.1_5'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	17					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)		GGGACTCTTTCTGCAGAACCA	0.721																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(49-51)Ctg>Atg		adaptor-related protein complex 4, epsilon 1 subunit							11	13	13					15																	51201024		2177	4269	6446	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51201024C>A	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.49C>A	15.37:g.51201024C>A	ENSP00000261842:p.Leu17Met		Somatic				AP4E1_ENST00000560508.1_5'UTR	p.L17M	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)	1	155	+			17					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.49C>A	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223740	0.58668	.	.	ENSG00000081014	ENST00000261842	T	0.19532	2.14	4.86	-0.0485	0.13838	.	0.161552	0.40640	N	0.001041	T	0.18383	0.0441	N	0.24115	0.695	0.52099	D	0.999947	P;D	0.61080	0.679;0.989	B;P	0.53450	0.259;0.726	T	0.02877	-1.1099	10	0.56958	D	0.05	-6.4303	6.6759	0.23093	0.0:0.5695:0.1158:0.3147	.	17;17	B4DM48;Q9UPM8	.;AP4E1_HUMAN	M	17	ENSP00000261842:L17M	ENSP00000261842:L17M	L	+	1	2	AP4E1	48988316	0.848000	0.29623	0.347000	0.25668	0.912000	0.54170	0.601000	0.24119	-0.086000	0.12550	0.557000	0.71058	CTG		0.721	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			9	10	1	0	0.000442599	1	0.00046913	9	10					A	51201024	C	A	51201024	3	1	48	1	0	0	0	0	1	0	0	0	752	912	32	2	51	2	AP4E1	15	51201024	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	431340	51201024	51330368	3446	7914										
AP4E1	23431	broad.mit.edu	37	chr15	51285572	51285572	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatcaacctccttaggacaaAtagcttgaagctggaaggta	9	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:51285572A>C	ENST00000261842.5	+	17	2202	c.2096A>C	c.(2095-2097)aAt>aCt	p.N699T	AP4E1_ENST00000560508.1_Missense_Mutation_p.N624T	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	699					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)		CTTAGGACAAATAGCTTGAAG	0.388																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(2095-2097)aAt>aCt		adaptor-related protein complex 4, epsilon 1 subunit							53	52	52					15																	51285572		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51285572A>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.2096A>C	15.37:g.51285572A>C	ENSP00000261842:p.Asn699Thr		Somatic				AP4E1_ENST00000560508.1_Missense_Mutation_p.N624T	p.N699T	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)	17	2202	+			699					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.2096A>C	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	A	8.013	0.757974	0.15846	.	.	ENSG00000081014	ENST00000261842	T	0.17370	2.28	5.29	-0.913	0.10500	.	0.368429	0.30840	N	0.008778	T	0.06371	0.0164	N	0.08118	0	0.26027	N	0.981797	B	0.09022	0.002	B	0.06405	0.002	T	0.41770	-0.9490	10	0.09843	T	0.71	-5.2959	9.541	0.39251	0.6486:0.0:0.3514:0.0	.	699	Q9UPM8	AP4E1_HUMAN	T	699	ENSP00000261842:N699T	ENSP00000261842:N699T	N	+	2	0	AP4E1	49072864	0.723000	0.28027	0.883000	0.34634	0.973000	0.67179	0.343000	0.19944	-0.189000	0.10482	0.460000	0.39030	AAT		0.388	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			6	24	0	0	0	1	0	6	24					C	51285572	A	C	51285572	3	2	48	1	0	0	0	0	1	0	0	0	752	101	4	4	2162	4	AP4E1	15	51285572	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	84548	51285572	51245820	3447	7915										
MYO5C	55930	broad.mit.edu	37	chr15	52538226	52538226	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgcagctgctgaacaattcTtttggagtcaaatctttaaa	7	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:52538226T>A	ENST00000261839.7	-	17	2154	c.1993A>T	c.(1993-1995)Aga>Tga	p.R665*	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	665	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			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)		TGAACAATTCTTTTGGAGTCA	0.458																																						ENST00000261839.7																			0				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.(1993-1995)Aga>Tga		myosin VC							64	61	62					15																	52538226		1894	4110	6004	SO:0001587	stop_gained	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52538226T>A	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.1993A>T	15.37:g.52538226T>A	ENSP00000261839:p.Arg665*		Somatic				MYO5C_ENST00000443683.2_3'UTR	p.R665*	NM_018728.3	NP_061198.2	WXS	Illumina GAIIx	Phase_I	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	17	2154	-			665			Myosin head-like.		Q6P1W8	Nonsense_Mutation	SNP	ENST00000261839.7	37	c.1993A>T	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	T	40	8.358141	0.98777	.	.	ENSG00000128833	ENST00000261839	.	.	.	4.88	2.47	0.30058	.	0.206561	0.44688	D	0.000433	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6572	0.51325	0.0:0.0:0.2916:0.7084	.	.	.	.	X	665	.	ENSP00000261839:R665X	R	-	1	2	MYO5C	50325518	0.988000	0.35896	0.997000	0.53966	0.964000	0.63967	1.258000	0.32944	0.323000	0.23307	0.533000	0.62120	AGA		0.458	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		5	17	0	0	0	1	0	5	17					A	52538226	T	A	52538226	4	1	48	1	0	0	0	0	0	1	0	0	10089	1617	56	4	3335	4	MYO5C	15	52538226	Nonsense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1252654	52538226	49993166	3448	7916										
MYO5A	4644	broad.mit.edu	37	chr15	52718065	52718065	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcttcttcagctactgcaaaGatatgtggatccatatcacc	7	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:52718065G>T	ENST00000399231.3	-	4	660	c.417C>A	c.(415-417)atC>atA	p.I139I	MYO5A_ENST00000358212.6_Silent_p.I139I|MYO5A_ENST00000399233.2_Silent_p.I139I|MYO5A_ENST00000553916.1_Silent_p.I139I|MYO5A_ENST00000356338.6_Silent_p.I139I	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	139	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)		CTACTGCAAAGATATGTGGAT	0.363																																						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.(415-417)atC>atA		myosin VA (heavy chain 12, myoxin)							119	108	111					15																	52718065		1849	4103	5952	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52718065G>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.417C>A	15.37:g.52718065G>T			Somatic				MYO5A_ENST00000356338.6_Silent_p.I139I|MYO5A_ENST00000553916.1_Silent_p.I139I|MYO5A_ENST00000399233.2_Silent_p.I139I|MYO5A_ENST00000358212.6_Silent_p.I139I	p.I139I	NM_000259.3	NP_000250.3	WXS	Illumina GAIIx	Phase_I	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	4	660	-			139			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.417C>A	CCDS42037.1																																																																																				0.363	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		20	32	1	0	4.63292e-17	1	6.19965e-17	20	32					T	52718065	G	T	52718065	2	4	48	1	0	0	0	0	0	0	0	1	10087	932	33	2		2	MYO5A	15	52718065	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	179839	52718065	49813327	3449	7917										
KIAA1370	56204	broad.mit.edu	37	chr15	52897382	52897382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgaaaggctctggttgaaGttccatccaaggaatgaaaa	11	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:52897382G>A	ENST00000261844.7	-	7	2560	c.2408C>T	c.(2407-2409)aCt>aTt	p.T803I	FAM214A_ENST00000546305.2_Missense_Mutation_p.T810I	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	803																	TCTGGTTGAAGTTCCATCCAA	0.338																																						ENST00000261844.7																			0											c.(2407-2409)aCt>aTt		family with sequence similarity 214, member A							159	162	161					15																	52897382		1840	4094	5934	SO:0001583	missense	56204							g.chr15:52897382G>A	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2408C>T	15.37:g.52897382G>A	ENSP00000261844:p.Thr803Ile		Somatic				FAM214A_ENST00000546305.2_Missense_Mutation_p.T810I	p.T803I	NM_019600.2	NP_062546.2	WXS	Illumina GAIIx	Phase_I	Q32MH5	K1370_HUMAN			7	2560	-			803					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.2408C>T	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.874087	0.33069	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.36157	1.27;1.27	5.06	2.6	0.31112	.	0.193557	0.53938	N	0.000043	T	0.20007	0.0481	N	0.16307	0.4	0.48975	D	0.999734	B;B	0.14438	0.01;0.006	B;B	0.20767	0.031;0.014	T	0.04723	-1.0931	10	0.38643	T	0.18	.	6.0658	0.19862	0.1964:0.1426:0.6609:0.0	.	810;803	F5H8G0;Q32MH5	.;K1370_HUMAN	I	803;803;802;810	ENSP00000261844:T803I;ENSP00000443598:T810I	ENSP00000261844:T803I	T	-	2	0	KIAA1370	50684674	1.000000	0.71417	0.914000	0.36105	0.996000	0.88848	4.121000	0.57904	0.336000	0.23639	0.650000	0.86243	ACT		0.338	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		6	103	0	0	0	1	0	6	103					A	52897382	G	A	52897382	3	1	48	1	0	0	0	0	1	0	0	0	8235	1029	36	3	850	3	KIAA1370	15	52897382	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	179317	52897382	49634010	3450	7918										
KIAA1370	56204	broad.mit.edu	37	chr15	52900777	52900777	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttacttaccaatacctctgtAttttttggttgctcacatgt	5	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:52900777A>C	ENST00000261844.7	-	6	2486	c.2334T>G	c.(2332-2334)aaT>aaG	p.N778K	FAM214A_ENST00000546305.2_Missense_Mutation_p.N785K	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	778																	ATACCTCTGTATTTTTTGGTT	0.318																																						ENST00000261844.7																			0											c.(2332-2334)aaT>aaG		family with sequence similarity 214, member A							126	121	123					15																	52900777		1807	4062	5869	SO:0001583	missense	56204							g.chr15:52900777A>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.2334T>G	15.37:g.52900777A>C	ENSP00000261844:p.Asn778Lys		Somatic				FAM214A_ENST00000546305.2_Missense_Mutation_p.N785K	p.N778K	NM_019600.2	NP_062546.2	WXS	Illumina GAIIx	Phase_I	Q32MH5	K1370_HUMAN			6	2486	-			778					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.2334T>G	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	A	9.612	1.131416	0.21041	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.33654	1.4;1.4	5.71	-0.477	0.12097	.	0.320787	0.36268	N	0.002683	T	0.26991	0.0661	L	0.40543	1.245	0.36987	D	0.894576	B;B	0.27971	0.196;0.124	B;B	0.30105	0.111;0.032	T	0.17471	-1.0368	10	0.42905	T	0.14	.	10.5723	0.45206	0.511:0.0:0.489:0.0	.	785;778	F5H8G0;Q32MH5	.;K1370_HUMAN	K	778;778;777;785	ENSP00000261844:N778K;ENSP00000443598:N785K	ENSP00000261844:N778K	N	-	3	2	KIAA1370	50688069	0.961000	0.32948	0.762000	0.31397	0.625000	0.37756	0.340000	0.19892	0.099000	0.17552	0.377000	0.23210	AAT		0.318	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		29	34	0	0	0	1	0	29	34					C	52900777	A	C	52900777	3	2	48	1	0	0	0	0	1	0	0	0	8235	446	16	4	928	4	KIAA1370	15	52900777	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	3395	52900777	49630615	3451	7919										
WDR72	256764	broad.mit.edu	37	chr15	54005024	54005024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctcagtatatgtgcaaaatCgaattgtctggcagttcaag	9	7	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:54005024C>T	ENST00000396328.1	-	7	895	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	WDR72_ENST00000360509.5_Missense_Mutation_p.R219Q|WDR72_ENST00000559418.1_Missense_Mutation_p.R219Q|WDR72_ENST00000557913.1_Missense_Mutation_p.R218Q	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	219										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)		TGTGCAAAATCGAATTGTCTG	0.323																																						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.(655-657)cGa>cAa		WD repeat domain 72							73	76	75					15																	54005024		2192	4293	6485	SO:0001583	missense	256764							g.chr15:54005024C>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.656G>A	15.37:g.54005024C>T	ENSP00000379619:p.Arg219Gln		Somatic				WDR72_ENST00000559418.1_Missense_Mutation_p.R219Q|WDR72_ENST00000360509.5_Missense_Mutation_p.R219Q|WDR72_ENST00000557913.1_Missense_Mutation_p.R218Q	p.R219Q	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)	7	895	-			219					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.656G>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191464	0.78902	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.41065	1.01;1.01	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000007	T	0.59959	0.2232	L	0.50919	1.6	0.29722	N	0.838559	D	0.89917	1.0	D	0.87578	0.998	T	0.53975	-0.8362	10	0.27082	T	0.32	.	19.0733	0.93148	0.0:1.0:0.0:0.0	.	219	Q3MJ13	WDR72_HUMAN	Q	219	ENSP00000379619:R219Q;ENSP00000353699:R219Q	ENSP00000353699:R219Q	R	-	2	0	WDR72	51792316	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.850000	0.62889	2.758000	0.94735	0.650000	0.86243	CGA		0.323	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		3	13	0	0	0	1	0	3	13					T	54005024	C	T	54005024	3	4	48	1	0	0	0	0	1	0	0	0	17337	884	31	1	2708	1	WDR72	15	54005024	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1104247	54005024	48526368	3452	7920										
UNC13C	440279	broad.mit.edu	37	chr15	54307590	54307590	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacagtggctcttcattaatGgggagatttcggacattatc	11	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:54307590G>T	ENST00000260323.11	+	1	2490	c.2490G>T	c.(2488-2490)atG>atT	p.M830I	UNC13C_ENST00000537900.1_Missense_Mutation_p.M830I|UNC13C_ENST00000545554.1_Missense_Mutation_p.M830I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	830					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)		CTTCATTAATGGGGAGATTTC	0.443																																						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.(2488-2490)atG>atT		unc-13 homolog C (C. elegans)							88	87	87					15																	54307590		1966	4153	6119	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307590G>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.2490G>T	15.37:g.54307590G>T	ENSP00000260323:p.Met830Ile		Somatic				UNC13C_ENST00000537900.1_Missense_Mutation_p.M830I|UNC13C_ENST00000260323.11_Missense_Mutation_p.M830I	p.M830I			WXS	Illumina GAIIx	Phase_I	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	2490	+			830					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.2490G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471439	0.26423	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.81247	-1.47;-1.46;-1.47	5.69	3.82	0.43975	.	.	.	.	.	T	0.64800	0.2631	N	0.17082	0.46	0.37209	D	0.904701	B	0.02656	0.0	B	0.04013	0.001	T	0.60068	-0.7335	9	0.39692	T	0.17	.	8.0182	0.30393	0.141:0.0:0.7278:0.1312	.	830	Q8NB66	UN13C_HUMAN	I	830	ENSP00000260323:M830I;ENSP00000438156:M830I;ENSP00000442569:M830I	ENSP00000260323:M830I	M	+	3	0	UNC13C	52094882	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.615000	0.61190	0.757000	0.33036	0.650000	0.86243	ATG		0.443	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		26	35	1	0	1.26454e-06	1	1.4261e-06	26	35					T	54307590	G	T	54307590	3	4	48	1	0	0	0	0	1	0	0	0	17001	1348	47	5	2492	5	UNC13C	15	54307590	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	302566	54307590	48223802	3453	7921										
CCPG1	9236	broad.mit.edu	37	chr15	55652205	55652205	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttctttccttccatcatttTgcatagtagggcctctatta	5	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:55652205T>C	ENST00000310958.6	-	8	2064	c.1766A>G	c.(1765-1767)cAa>cGa	p.Q589R	CCPG1_ENST00000569205.1_Missense_Mutation_p.Q589R|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000442196.3_Missense_Mutation_p.Q589R|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	589					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)		TCCATCATTTTGCATAGTAGG	0.348																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(1765-1767)cAa>cGa		cell cycle progression 1							132	124	126					15																	55652205		1800	4062	5862	SO:0001583	missense	9236				cell cycle	integral to membrane		g.chr15:55652205T>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.1766A>G	15.37:g.55652205T>C	ENSP00000311656:p.Gln589Arg		Somatic				CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Missense_Mutation_p.Q589R|CCPG1_ENST00000442196.3_Missense_Mutation_p.Q589R|DYX1C1-CCPG1_ENST00000565113.1_RNA	p.Q589R	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	2064	-			589					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	c.1766A>G	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	T	2.802	-0.248950	0.05867	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	T;T	0.03607	3.87;3.87	5.45	3.15	0.36227	.	1.146320	0.06181	N	0.679420	T	0.02929	0.0087	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.46762	-0.9168	10	0.07990	T	0.79	.	6.5147	0.22242	0.0:0.1069:0.2352:0.658	.	589;589;445	A8K9T0;Q9ULG6;Q9ULG6-2	.;CCPG1_HUMAN;.	R	589	ENSP00000311656:Q589R;ENSP00000403400:Q589R	ENSP00000311656:Q589R	Q	-	2	0	DYX1C1	53439497	0.027000	0.19231	0.004000	0.12327	0.369000	0.29798	0.759000	0.26461	0.908000	0.36671	0.533000	0.62120	CAA		0.348	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		35	62	0	0	0	1	0	35	62					C	55652205	T	C	55652205	3	2	48	1	0	0	0	0	1	0	0	0	2940	1812	63	4	511	4	CCPG1	15	55652205	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1344615	55652205	46879187	3454	7922										
DYX1C1	161582	broad.mit.edu	37	chr15	55759161	55759161	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atttctagatgccaaatttcTagtaagactcttatatttta	4	6	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:55759161T>G	ENST00000321149.3	-	5	971	c.604A>C	c.(604-606)Aga>Cga	p.R202R	DYX1C1_ENST00000380679.1_Silent_p.R202R|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Silent_p.R202R|DYX1C1_ENST00000457155.2_Silent_p.R202R|DYX1C1_ENST00000448430.2_Silent_p.R202R	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	202					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)		GCCAAATTTCTAGTAAGACtc	0.289																																						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.(604-606)Aga>Cga		dyslexia susceptibility 1 candidate 1							35	37	36					15																	55759161		2186	4276	6462	SO:0001819	synonymous_variant	161582				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	g.chr15:55759161T>G		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.604A>C	15.37:g.55759161T>G			Somatic				DYX1C1_ENST00000380679.1_Silent_p.R202R|DYX1C1_ENST00000457155.2_Silent_p.R202R|DYX1C1_ENST00000448430.2_Silent_p.R202R|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Silent_p.R202R	p.R202R	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)	5	971	-			202					Q6P5Y9|Q8N1S6	Silent	SNP	ENST00000321149.3	37	c.604A>C	CCDS10154.1																																																																																				0.289	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		11	31	0	0	0	1	0	11	31					G	55759161	T	G	55759161	2	3	48	1	0	0	0	0	0	0	0	1	4864	1530	53	4		4	DYX1C1	15	55759161	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	106956	55759161	46772231	3455	7923										
PRTG	283659	broad.mit.edu	37	chr15	55912375	55912375	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgagaagctggttgtctgAcctggggagctaggggagtc	17	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:55912375A>G	ENST00000389286.4	-	20	3335	c.3288T>C	c.(3286-3288)ggT>ggC	p.G1096G		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGGTTGTCTGACCTGGGGAGC	0.488																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(3286-3288)ggT>ggC		protogenin							109	107	108					15																	55912375		1891	4111	6002	SO:0001819	synonymous_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55912375A>G	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3288T>C	15.37:g.55912375A>G			Somatic					p.G1096G	NM_173814.4	NP_776175.2	WXS	Illumina GAIIx	Phase_I	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	20	3335	-			1096						Silent	SNP	ENST00000389286.4	37	c.3288T>C	CCDS42040.1																																																																																				0.488	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		35	60	0	0	0	1	0	35	60					G	55912375	A	G	55912375	2	3	48	1	0	0	0	0	0	0	0	1	12650	262	10	4		4	PRTG	15	55912375	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	153214	55912375	46619017	3456	7924										
RFX7	64864	broad.mit.edu	37	chr15	56388073	56388073	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atagagtgatagtgctttgaTtattgcctgttgacgtgcct	11	6	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:56388073T>C	ENST00000559447.2	-	9	1833	c.1562A>G	c.(1561-1563)aAt>aGt	p.N521S	RFX7_ENST00000317318.6_Missense_Mutation_p.N618S|RFX7_ENST00000422057.1_Missense_Mutation_p.N521S|RFX7_ENST00000423270.1_Missense_Mutation_p.N618S			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	521					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGTGCTTTGATTATTGCCTGT	0.413																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1852-1854)aAt>aGt		regulatory factor X, 7							93	89	90					15																	56388073		1999	4167	6166	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56388073T>C			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1562A>G	15.37:g.56388073T>C	ENSP00000453281:p.Asn521Ser		Somatic				RFX7_ENST00000422057.1_Missense_Mutation_p.N521S|RFX7_ENST00000317318.6_Missense_Mutation_p.N618S|RFX7_ENST00000559447.2_Missense_Mutation_p.N521S	p.N618S	NM_022841.5	NP_073752.5	WXS	Illumina GAIIx	Phase_I	Q2KHR2	RFX7_HUMAN			9	1852	-			521					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.1853A>G		.	.	.	.	.	.	.	.	.	.	T	13.87	2.366116	0.41902	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.54675	0.56;0.56;0.56	5.5	3.11	0.35812	.	0.000000	0.64402	D	0.000001	T	0.34454	0.0898	N	0.19112	0.55	0.40581	D	0.981397	B;B	0.22276	0.067;0.024	B;B	0.18871	0.023;0.007	T	0.22417	-1.0217	10	0.87932	D	0	-17.8902	7.9648	0.30091	0.0:0.0726:0.1356:0.7918	.	521;521	Q2KHR2;C9JU50	RFX7_HUMAN;.	S	521;618;618	ENSP00000387504:N521S;ENSP00000313299:N618S;ENSP00000397644:N618S	ENSP00000313299:N618S	N	-	2	0	RFX7	54175365	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	2.689000	0.46993	0.886000	0.36113	0.533000	0.62120	AAT		0.413	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		21	18	0	0	0	1	0	21	18					C	56388073	T	C	56388073	3	2	48	1	0	0	0	0	1	0	0	0	13283	1493	52	4	2533	4	RFX7	15	56388073	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	475698	56388073	46143319	3457	7925										
MNS1	55329	broad.mit.edu	37	chr15	56748713	56748713	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctttcaatctcttgttttCttctgcctgaacgaaaaatt	4	9	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:56748713C>A	ENST00000260453.3	-	3	396	c.232G>T	c.(232-234)Gaa>Taa	p.E78*		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	78	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)	p.E78*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CTCTTGTTTTCTTCTGCCTGA	0.333																																						ENST00000260453.3																			1	Substitution - Nonsense(1)	p.E78*(1)	pancreas(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(232-234)Gaa>Taa		meiosis-specific nuclear structural 1							149	136	140					15																	56748713		2191	4291	6482	SO:0001587	stop_gained	55329				meiosis			g.chr15:56748713C>A	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"spermatogenesis associated 40"	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.232G>T	15.37:g.56748713C>A	ENSP00000260453:p.Glu78*		Somatic					p.E78*	NM_018365.2	NP_060835.1	WXS	Illumina GAIIx	Phase_I	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	3	396	-			78			Glu-rich.		Q8IYT6|Q9NUP4	Nonsense_Mutation	SNP	ENST00000260453.3	37	c.232G>T	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	C	38	6.978381	0.97979	.	.	ENSG00000138587	ENST00000260453	.	.	.	5.87	5.87	0.94306	.	0.043050	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-16.6937	18.0718	0.89410	0.0:1.0:0.0:0.0	.	.	.	.	X	78	.	ENSP00000260453:E78X	E	-	1	0	MNS1	54536005	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.673000	0.68109	2.941000	0.99782	0.655000	0.94253	GAA		0.333	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		6	28	1	0	5.18039e-06	1	5.75679e-06	6	28					A	56748713	C	A	56748713	4	1	48	1	0	0	0	0	0	1	0	0	9686	922	32	2	1287	2	MNS1	15	56748713	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	360640	56748713	45782679	3458	7926										
TCF12	6938	broad.mit.edu	37	chr15	57511760	57511760	+	Intron	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccctggaatgggcagcaattCtttgatgtattactacaatg	9	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:57511760C>A	ENST00000267811.5	+	9	883				TCF12_ENST00000438423.2_Intron|TCF12_ENST00000537840.1_5'UTR|TCF12_ENST00000557843.1_Intron|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000543579.1_Missense_Mutation_p.S14Y|TCF12_ENST00000333725.5_Intron|TCF12_ENST00000343827.3_Missense_Mutation_p.S14Y|TCF12_ENST00000452095.2_Intron	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						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)		GGCAGCAATTCTTTGATGTAT	0.358			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000343827.3				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.(40-42)tCt>tAt		transcription factor 12							149	138	142					15																	57511760		1869	4111	5980	SO:0001627	intron_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.chr15:57511760C>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.580-11590C>A	15.37:g.57511760C>A			Somatic				TCF12_ENST00000543579.1_Missense_Mutation_p.S14Y|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000333725.5_Intron|TCF12_ENST00000537840.1_5'UTR|TCF12_ENST00000267811.5_Intron|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000438423.2_Intron|TCF12_ENST00000557843.1_Intron	p.S14Y	NM_207040.1	NP_996923.1	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)	1	97	+		Colorectal(260;0.0907)	0					Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	c.41C>A	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055167	0.55325	.	.	ENSG00000140262	ENST00000543579;ENST00000343827	T;T	0.21361	2.01;2.01	5.55	5.55	0.83447	.	.	.	.	.	T	0.43523	0.1251	.	.	.	0.80722	D	1	D;D	0.64830	0.987;0.994	P;P	0.57776	0.775;0.827	T	0.28299	-1.0048	8	0.87932	D	0	.	18.4277	0.90614	0.0:1.0:0.0:0.0	.	14;14	F5GY10;Q99081-2	.;.	Y	14	ENSP00000440017:S14Y;ENSP00000342459:S14Y	ENSP00000342459:S14Y	S	+	2	0	TCF12	55299052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.765000	0.74965	2.890000	0.99128	0.585000	0.79938	TCT		0.358	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		7	11	1	0	5.18039e-06	1	5.75679e-06	7	11					A	57511760	C	A	57511760	1	1	48	0	1	0	0	0	0	0	0	0	15702	913	32	2		2	TCF12	15	57511760	Intron	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	763047	57511760	45019632	3459	7927										
TCF12	6938	broad.mit.edu	37	chr15	57555431	57555431	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgaagtcagatgatgaatcCtcccaaaaagatatcaaggt	8	7	2	5	rs151235578	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:57555431C>A	ENST00000267811.5	+	17	1936	c.1632C>A	c.(1630-1632)tcC>tcA	p.S544S	TCF12_ENST00000559703.1_Silent_p.S202S|TCF12_ENST00000438423.2_Silent_p.S568S|TCF12_ENST00000537840.1_Silent_p.S308S|TCF12_ENST00000557843.1_Silent_p.S544S|TCF12_ENST00000543579.1_Silent_p.S398S|TCF12_ENST00000333725.5_Silent_p.S568S|TCF12_ENST00000343827.3_Silent_p.S374S|TCF12_ENST00000559710.1_Silent_p.S178S|TCF12_ENST00000452095.2_Silent_p.S564S	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	544					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)		ATGATGAATCCTCCCAAAAAG	0.343			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.(1630-1632)tcC>tcA		transcription factor 12							81	79	80					15																	57555431		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.chr15:57555431C>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.1632C>A	15.37:g.57555431C>A			Somatic				TCF12_ENST00000543579.1_Silent_p.S398S|TCF12_ENST00000333725.5_Silent_p.S568S|TCF12_ENST00000343827.3_Silent_p.S374S|TCF12_ENST00000537840.1_Silent_p.S308S|TCF12_ENST00000559703.1_Silent_p.S202S|TCF12_ENST00000452095.2_Silent_p.S564S|TCF12_ENST00000559710.1_Silent_p.S178S|TCF12_ENST00000438423.2_Silent_p.S568S|TCF12_ENST00000557843.1_Silent_p.S544S	p.S544S	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)	17	1936	+		Colorectal(260;0.0907)	544					Q7Z3D9|Q86TC1|Q86VM2	Silent	SNP	ENST00000267811.5	37	c.1632C>A	CCDS10159.1																																																																																				0.343	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		5	34	1	0	0.014758	1	0.015099	5	34					A	57555431	C	A	57555431	2	1	48	1	0	0	0	0	0	0	0	1	15702	668	24	5		5	TCF12	15	57555431	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	43671	57555431	44975961	3460	7928										
SLTM	79811	broad.mit.edu	37	chr15	59179667	59179667	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaatttttgggatatctttcGaagcttggatcttcccttcg	8	8	2	0	rs148004381	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:59179667G>A	ENST00000380516.2	-	18	2535	c.2448C>T	c.(2446-2448)ttC>ttT	p.F816F	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Silent_p.F385F	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	816	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						GATATCTTTCGAAGCTTGGAT	0.448													G|||	2	0.000399361	0.0015	0	5008	,	,		20043	0		0	False		,,,				2504	0					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.(2446-2448)ttC>ttT		SAFB-like, transcription modulator		G	,	4,4380	8.1+/-20.4	0,4,2188	171	155	161		2394,2448	2.1	1	15	dbSNP_134	161	0,8584		0,0,4292	no	coding-synonymous,coding-synonymous	SLTM	NM_001013843.1,NM_024755.2	,	0,4,6480	AA,AG,GG		0.0,0.0912,0.0308	,	798/1017,816/1035	59179667	4,12964	2192	4292	6484	SO:0001819	synonymous_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59179667G>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.2448C>T	15.37:g.59179667G>A			Somatic				SLTM_ENST00000536328.1_Silent_p.F385F	p.F816F	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	WXS	Illumina GAIIx	Phase_I	Q9NWH9	SLTM_HUMAN			18	2535	-			816			Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000380516.2	37	c.2448C>T	CCDS10168.2																																																																																				0.448	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		20	41	0	0	0	1	0	20	41					A	59179667	G	A	59179667	2	1	48	1	0	0	0	0	0	0	0	1	14769	1049	37	1		1	SLTM	15	59179667	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1624236	59179667	43351725	3461	7929										
CCNB2	9133	broad.mit.edu	37	chr15	59399854	59399854	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcaaaccagtacagatggaAaagttggctccaaaggtagg	12	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:59399854A>C	ENST00000288207.2	+	3	443	c.252A>C	c.(250-252)gaA>gaC	p.E84D	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	84					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TACAGATGGAAAAGTTGGCTC	0.403																																						ENST00000288207.2																			0				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(250-252)gaA>gaC		cyclin B2							72	71	71					15																	59399854		2191	4291	6482	SO:0001583	missense	9133				cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding	g.chr15:59399854A>C	AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.252A>C	15.37:g.59399854A>C	ENSP00000288207:p.Glu84Asp		Somatic				CCNB2_ENST00000559622.1_Intron	p.E84D	NM_004701.3	NP_004692.1	WXS	Illumina GAIIx	Phase_I	O95067	CCNB2_HUMAN			3	443	+			84					B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	37	c.252A>C	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	A	9.919	1.211631	0.22289	.	.	ENSG00000157456	ENST00000288207	T	0.15718	2.4	4.91	1.29	0.21616	.	0.584708	0.17844	N	0.160092	T	0.10165	0.0249	L	0.38531	1.155	0.47037	D	0.999297	B	0.02656	0.0	B	0.04013	0.001	T	0.22487	-1.0215	10	0.20519	T	0.43	.	3.25	0.06811	0.5125:0.0:0.3112:0.1763	.	84	O95067	CCNB2_HUMAN	D	84	ENSP00000288207:E84D	ENSP00000288207:E84D	E	+	3	2	CCNB2	57187146	0.955000	0.32602	0.438000	0.26821	0.661000	0.39034	1.496000	0.35638	0.032000	0.15435	0.533000	0.62120	GAA		0.403	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		16	39	0	0	0	1	0	16	39					C	59399854	A	C	59399854	3	2	48	1	0	0	0	0	1	0	0	0	2915	11	1	4	262	4	CCNB2	15	59399854	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	220187	59399854	43131538	3462	7930										
NARG2	79664	broad.mit.edu	37	chr15	60741464	60741464	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atctgtatcactgctgcagaGaactgtatcttcagtttttg	8	8	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:60741464G>T	ENST00000261520.4	-	10	1936	c.1702C>A	c.(1702-1704)Ctc>Atc	p.L568I	NARG2_ENST00000439632.1_Missense_Mutation_p.L431I	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						CTGCTGCAGAGAACTGTATCT	0.368																																						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.(1702-1704)Ctc>Atc		NMDA receptor regulated 2							90	90	90					15																	60741464		2203	4300	6503	SO:0001583	missense	79664					nucleus		g.chr15:60741464G>T																												ENST00000261520.4:c.1702C>A	15.37:g.60741464G>T	ENSP00000261520:p.Leu568Ile		Somatic				NARG2_ENST00000439632.1_Missense_Mutation_p.L431I	p.L568I	NM_024611.4	NP_078887.2	WXS	Illumina GAIIx	Phase_I	Q659A1	NARG2_HUMAN			10	1936	-			568						Missense_Mutation	SNP	ENST00000261520.4	37	c.1702C>A	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	G	0.283	-0.984979	0.02180	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.73	-0.174	0.13319	.	1.443270	0.03732	N	0.253582	T	0.21509	0.0518	N	0.24115	0.695	0.09310	N	1	B;B	0.28128	0.001;0.201	B;B	0.24701	0.001;0.055	T	0.11690	-1.0577	9	0.21540	T	0.41	1.4559	2.6874	0.05111	0.2911:0.1261:0.4553:0.1274	.	236;568	B3KXT2;Q659A1	.;NARG2_HUMAN	I	568;431	.	ENSP00000261520:L568I	L	-	1	0	NARG2	58528756	0.180000	0.23148	0.000000	0.03702	0.001000	0.01503	1.973000	0.40550	0.060000	0.16281	-0.840000	0.03056	CTC		0.368	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			26	37	1	0	6.32553e-13	1	8.04352e-13	26	37					T	60741464	G	T	60741464	3	4	48	1	0	0	0	0	1	0	0	0	10178	942	33	2	1274	2	NARG2	15	60741464	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1341610	60741464	41789928	3463	7931										
NARG2	79664	broad.mit.edu	37	chr15	60748989	60748989	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttcaatgcaagctcttaaaAttttctgagaaacagaaatt	6	6	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:60748989A>C	ENST00000261520.4	-	6	767	c.533T>G	c.(532-534)aTt>aGt	p.I178S	NARG2_ENST00000439632.1_Missense_Mutation_p.I41S|NARG2_ENST00000561114.1_Missense_Mutation_p.I178S	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						AGCTCTTAAAATTTTCTGAGA	0.303																																						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.(532-534)aTt>aGt		NMDA receptor regulated 2							44	50	48					15																	60748989		2200	4295	6495	SO:0001583	missense	79664					nucleus		g.chr15:60748989A>C																												ENST00000261520.4:c.533T>G	15.37:g.60748989A>C	ENSP00000261520:p.Ile178Ser		Somatic				NARG2_ENST00000439632.1_Missense_Mutation_p.I41S|NARG2_ENST00000561114.1_Missense_Mutation_p.I178S	p.I178S	NM_024611.4	NP_078887.2	WXS	Illumina GAIIx	Phase_I	Q659A1	NARG2_HUMAN			6	767	-			178						Missense_Mutation	SNP	ENST00000261520.4	37	c.533T>G	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168405	0.38315	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.4	5.4	0.78164	.	0.454000	0.25037	N	0.033625	T	0.32436	0.0829	N	0.19112	0.55	0.26481	N	0.975115	B;B	0.27625	0.13;0.183	B;B	0.31812	0.136;0.058	T	0.37009	-0.9724	9	0.72032	D	0.01	-14.449	13.1451	0.59456	1.0:0.0:0.0:0.0	.	41;178	G3V0H6;Q659A1	.;NARG2_HUMAN	S	178;41	.	ENSP00000261520:I178S	I	-	2	0	NARG2	58536281	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.967000	0.49216	2.193000	0.70182	0.454000	0.30748	ATT		0.303	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			15	29	0	0	0	1	0	15	29					C	60748989	A	C	60748989	3	2	48	1	0	0	0	0	1	0	0	0	10178	101	4	4	2459	4	NARG2	15	60748989	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	7525	60748989	41782403	3464	7932										
VPS13C	54832	broad.mit.edu	37	chr15	62306143	62306143	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acataataccttgtatataaTtttgtctgcttcatttaata	3	6	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:62306143T>G	ENST00000261517.5	-	10	806	c.733A>C	c.(733-735)Att>Ctt	p.I245L	VPS13C_ENST00000395898.3_Missense_Mutation_p.I202L|VPS13C_ENST00000249837.3_Missense_Mutation_p.I202L|VPS13C_ENST00000395896.4_Missense_Mutation_p.I245L	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						TTGTATATAATTTTGTCTGCT	0.318																																						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.(733-735)Att>Ctt		vacuolar protein sorting 13 homolog C (S. cerevisiae)							83	85	84					15																	62306143		2203	4299	6502	SO:0001583	missense	54832				protein localization			g.chr15:62306143T>G	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.733A>C	15.37:g.62306143T>G	ENSP00000261517:p.Ile245Leu		Somatic				VPS13C_ENST00000395896.4_Missense_Mutation_p.I245L|VPS13C_ENST00000395898.3_Missense_Mutation_p.I202L|VPS13C_ENST00000249837.3_Missense_Mutation_p.I202L	p.I245L	NM_020821.2	NP_065872.1	WXS	Illumina GAIIx	Phase_I	Q709C8	VP13C_HUMAN			10	806	-			245						Missense_Mutation	SNP	ENST00000261517.5	37	c.733A>C	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	5.940	0.357477	0.11239	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T;T	0.43294	0.96;0.95;1.13;1.23	5.24	5.24	0.73138	.	0.239314	0.35179	N	0.003390	T	0.34019	0.0883	L	0.35487	1.065	0.43988	D	0.996688	B;B;B;B	0.28208	0.203;0.078;0.034;0.047	B;B;B;B	0.29716	0.022;0.106;0.047;0.049	T	0.24012	-1.0172	10	0.72032	D	0.01	.	11.434	0.50058	0.0:0.0732:0.0:0.9268	.	202;245;202;245	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	202;245;245;245	ENSP00000249837:I202L;ENSP00000261517:I245L;ENSP00000379233:I245L;ENSP00000379235:I245L	ENSP00000249837:I202L	I	-	1	0	VPS13C	60093435	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.789000	0.55454	2.106000	0.64143	0.477000	0.44152	ATT		0.318	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		13	25	0	0	0	1	0	13	25					G	62306143	T	G	62306143	3	3	48	1	0	0	0	0	1	0	0	0	17206	1493	52	4	10860	4	VPS13C	15	62306143	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1557154	62306143	40225249	3465	7933										
VPS13C	54832	broad.mit.edu	37	chr15	62315708	62315708	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaatgtatcctttttggcttCttttggcttatctattaaaa	5	6	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:62315708C>A	ENST00000261517.5	-	8	599	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E133*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E133*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E176*	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						TTTTTGGCTTCTTTTGGCTTA	0.279																																						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.(526-528)Gaa>Taa		vacuolar protein sorting 13 homolog C (S. cerevisiae)							29	29	29					15																	62315708		2168	4236	6404	SO:0001587	stop_gained	54832				protein localization			g.chr15:62315708C>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.526G>T	15.37:g.62315708C>A	ENSP00000261517:p.Glu176*		Somatic				VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E176*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E133*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E133*	p.E176*	NM_020821.2	NP_065872.1	WXS	Illumina GAIIx	Phase_I	Q709C8	VP13C_HUMAN			8	599	-			176			Lys-rich.			Nonsense_Mutation	SNP	ENST00000261517.5	37	c.526G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	35	5.597197	0.96602	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.38	4.26	0.50523	.	0.058906	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	13.8945	0.63764	0.0:0.9103:0.0:0.0897	.	.	.	.	X	133;176;176;176	.	ENSP00000249837:E133X	E	-	1	0	VPS13C	60103000	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.345000	0.52182	2.527000	0.85204	0.585000	0.79938	GAA		0.279	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		5	9	1	0	0.000602214	1	0.000636035	5	9					A	62315708	C	A	62315708	4	1	48	1	0	0	0	0	0	1	0	0	17206	922	32	2	11075	2	VPS13C	15	62315708	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	9565	62315708	40215684	3466	7934										
HERC1	8925	broad.mit.edu	37	chr15	63970231	63970231	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatgcaaagagtcctcagctGcagctctgagaggtcagcga	12	10	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:63970231G>A	ENST00000443617.2	-	37	6970	c.6883C>T	c.(6883-6885)Cag>Tag	p.Q2295*	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	2295					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						GTCCTCAGCTGCAGCTCTGAG	0.512																																						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.(6883-6885)Cag>Tag		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							139	147	144					15																	63970231		2093	4204	6297	SO:0001587	stop_gained	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63970231G>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.6883C>T	15.37:g.63970231G>A	ENSP00000390158:p.Gln2295*		Somatic				RP11-317G6.1_ENST00000559303.2_RNA	p.Q2295*	NM_003922.3	NP_003913.3	WXS	Illumina GAIIx	Phase_I	Q15751	HERC1_HUMAN			37	6970	-			2295					Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	c.6883C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	49	15.016106	0.99819	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.6	5.6	0.85130	.	0.228380	0.37304	N	0.002158	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	19.605	0.95577	0.0:0.0:1.0:0.0	.	.	.	.	X	2295	.	ENSP00000390158:Q2295X	Q	-	1	0	HERC1	61757284	1.000000	0.71417	0.960000	0.40013	0.976000	0.68499	4.427000	0.59888	2.635000	0.89317	0.655000	0.94253	CAG		0.512	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		39	59	0	0	0	1	0	39	59					A	63970231	G	A	63970231	4	1	48	1	0	0	0	0	0	1	0	0	7066	1328	46	3	7870	3	HERC1	15	63970231	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1654523	63970231	38561161	3467	7935										
HERC1	8925	broad.mit.edu	37	chr15	63972977	63972977	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttccttcacaatataaaacTaaaataaaagtgggatattc	4	6	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:63972977T>A	ENST00000443617.2	-	35	6313		c.e35-2		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						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						AATATAAAACTAAAATAAAAG	0.313																																						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.e35-2		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							82	78	79					15																	63972977		1811	4070	5881	SO:0001630	splice_region_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63972977T>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.6226-2A>T	15.37:g.63972977T>A			Somatic				RP11-317G6.1_ENST00000559303.2_RNA		NM_003922.3	NP_003913.3	WXS	Illumina GAIIx	Phase_I	Q15751	HERC1_HUMAN			35	6313	-								Q8IW65	Splice_Site	SNP	ENST00000443617.2	37		CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.264763	0.80358	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2109	0.82158	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC1	61760030	1.000000	0.71417	0.993000	0.49108	0.891000	0.51852	8.040000	0.89188	2.230000	0.72887	0.455000	0.32223	.		0.313	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	Intron	23	30	0	0	0	1	0	23	30					A	63972977	T	A	63972977	5	1	48	1	0	0	0	0	0	0	1	0	7066	1536	53	4	8537	4	HERC1	15	63972977	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2746	63972977	38558415	3468	7936										
ANKDD1A	348094	broad.mit.edu	37	chr15	65223707	65223707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggtctgactgccctgcattCggctgctggaggatcccacc	12	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:65223707C>T	ENST00000380230.3	+	8	721	c.692C>T	c.(691-693)tCg>tTg	p.S231L	ANKDD1A_ENST00000395723.1_Missense_Mutation_p.S140L|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.S140L|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.S231L|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.S231L	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	231					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GCCCTGCATTCGGCTGCTGGA	0.622																																						ENST00000380230.3																			0				NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						c.(691-693)tCg>tTg		ankyrin repeat and death domain containing 1A							95	63	73					15																	65223707		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65223707C>T		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"Ankyrin repeat domain containing"	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.692C>T	15.37:g.65223707C>T	ENSP00000369579:p.Ser231Leu		Somatic				ANKDD1A_ENST00000395723.1_Missense_Mutation_p.S140L|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.S140L|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.S231L|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.S231L	p.S231L	NM_182703.3	NP_874362.3	WXS	Illumina GAIIx	Phase_I	Q495B1	AKD1A_HUMAN			8	721	+			231					Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.692C>T	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.063029	0.00386	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000319597;ENST00000496660;ENST00000483400;ENST00000395723	T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15	4.04	3.09	0.35607	Ankyrin repeat-containing domain (4);	0.540499	0.16174	N	0.226155	T	0.18882	0.0453	N	0.00462	-1.47	0.09310	N	0.999995	B;B;B;B;B	0.20780	0.048;0.002;0.001;0.001;0.002	B;B;B;B;B	0.15484	0.013;0.001;0.001;0.0;0.001	T	0.22347	-1.0219	10	0.11794	T	0.64	-2.2126	7.7276	0.28769	0.0:0.8809:0.0:0.1191	.	96;231;137;231;231	E7ET26;Q495B1;A4QMR4;Q495B1-2;Q495B1-1	.;AKD1A_HUMAN;.;.;.	L	231;231;231;96;140;92;140	ENSP00000369579:S231L;ENSP00000350329:S231L;ENSP00000379070:S231L;ENSP00000420999:S140L;ENSP00000423548:S92L;ENSP00000379073:S140L	ENSP00000326203:S96L	S	+	2	0	ANKDD1A	63010760	0.000000	0.05858	0.018000	0.16275	0.037000	0.13140	-0.190000	0.09615	2.102000	0.63906	0.655000	0.94253	TCG		0.622	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		16	24	0	0	0	1	0	16	24					T	65223707	C	T	65223707	3	4	48	1	0	0	0	0	1	0	0	0	624	893	31	1	722	1	ANKDD1A	15	65223707	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1250730	65223707	37307685	3469	7937										
MTFMT	123263	broad.mit.edu	37	chr15	65295412	65295412	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttcctaactactcaatgcaTtgttgcatagcaacagtttt	5	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:65295412T>C	ENST00000220058.4	-	9	1171	c.1158A>G	c.(1156-1158)caA>caG	p.Q386Q		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	386						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	ACTCAATGCATTGTTGCATAG	0.323																																						ENST00000220058.4																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10						c.(1156-1158)caA>caG		mitochondrial methionyl-tRNA formyltransferase	Tetrahydrofolic acid(DB00116)						101	89	92					15																	65295412		1820	4079	5899	SO:0001819	synonymous_variant	123263					mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity	g.chr15:65295412T>C	AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.1158A>G	15.37:g.65295412T>C			Somatic					p.Q386Q	NM_139242.3	NP_640335.2	WXS	Illumina GAIIx	Phase_I	Q96DP5	FMT_HUMAN			9	1171	-			386					B7Z734	Silent	SNP	ENST00000220058.4	37	c.1158A>G	CCDS45280.1																																																																																				0.323	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		6	27	0	0	0	1	0	6	27					C	65295412	T	C	65295412	2	2	48	1	0	0	0	0	0	0	0	1	9933	1490	52	4		4	MTFMT	15	65295412	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	71705	65295412	37235980	3470	7938										
CILP	8483	broad.mit.edu	37	chr15	65489882	65489882	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgatccccctcaatctggtaGaaccggaagtgggctgcact	11	13	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:65489882G>T	ENST00000261883.4	-	9	2908	c.2742C>A	c.(2740-2742)ttC>ttA	p.F914L		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	914					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						CAATCTGGTAGAACCGGAAGT	0.547																																						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.(2740-2742)ttC>ttA		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							103	96	98					15																	65489882		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489882G>T	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.2742C>A	15.37:g.65489882G>T	ENSP00000261883:p.Phe914Leu		Somatic					p.F914L	NM_003613.3	NP_003604.3	WXS	Illumina GAIIx	Phase_I	O75339	CILP1_HUMAN			9	2908	-			914					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.2742C>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364733	0.61513	.	.	ENSG00000138615	ENST00000261883	T	0.10005	2.92	5.91	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	M	0.80422	2.495	0.53688	D	0.999971	D	0.71674	0.998	D	0.77004	0.989	T	0.04961	-1.0915	10	0.72032	D	0.01	-6.5168	7.7512	0.28898	0.243:0.0:0.757:0.0	.	914	O75339	CILP1_HUMAN	L	914	ENSP00000261883:F914L	ENSP00000261883:F914L	F	-	3	2	CILP	63276935	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.806000	0.47947	1.509000	0.48786	0.655000	0.94253	TTC		0.547	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		33	62	1	0	2.68265e-12	1	3.37613e-12	33	62					T	65489882	G	T	65489882	3	4	48	1	0	0	0	0	1	0	0	0	3431	933	33	2	816	2	CILP	15	65489882	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	194470	65489882	37041510	3471	7939										
DENND4A	10260	broad.mit.edu	37	chr15	65959785	65959785	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttttaatttttagtctcatAcctttgaatacttgttacag	4	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:65959785A>G	ENST00000431932.2	-	28	5318		c.e28+1		DENND4A_ENST00000443035.3_Splice_Site	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A						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						TTAGTCTCATACCTTTGAATA	0.333																																						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.e29+1		DENN/MADD domain containing 4A							94	90	91					15																	65959785		1831	4077	5908	SO:0001630	splice_region_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65959785A>G	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.5109+1T>C	15.37:g.65959785A>G			Somatic				DENND4A_ENST00000431932.2_Splice_Site		NM_001144823.1	NP_001138295.1	WXS	Illumina GAIIx	Phase_I	Q7Z401	MYCPP_HUMAN			29	5454	-								E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Splice_Site	SNP	ENST00000431932.2	37		CCDS45285.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990941	0.74703	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8687	0.79091	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND4A	63746839	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.877000	0.87225	2.205000	0.71048	0.454000	0.30748	.		0.333	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	Intron	16	27	0	0	0	1	0	16	27					G	65959785	A	G	65959785	5	3	48	1	0	0	0	0	0	0	1	0	4435	405	14	4	500	4	DENND4A	15	65959785	Splice_Site	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	469903	65959785	36571607	3472	7940										
DENND4A	10260	broad.mit.edu	37	chr15	66048662	66048662	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaaacatctgtaataggttCttttggtttagctactttat	7	5	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:66048662C>A	ENST00000431932.2	-	3	335	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	DENND4A_ENST00000443035.3_Nonsense_Mutation_p.E43*	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	43	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				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)	p.E43*(1)		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						GTAATAGGTTCTTTTGGTTTA	0.373																																						ENST00000443035.3																			1	Substitution - Nonsense(1)	p.E43*(1)	large_intestine(1)	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.(127-129)Gaa>Taa		DENN/MADD domain containing 4A							72	69	70					15																	66048662		1826	4074	5900	SO:0001587	stop_gained	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66048662C>A	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.127G>T	15.37:g.66048662C>A	ENSP00000396830:p.Glu43*		Somatic				DENND4A_ENST00000431932.2_Nonsense_Mutation_p.E43*	p.E43*	NM_001144823.1	NP_001138295.1	WXS	Illumina GAIIx	Phase_I	Q7Z401	MYCPP_HUMAN			3	342	-			43			MABP.		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Nonsense_Mutation	SNP	ENST00000431932.2	37	c.127G>T	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	39	7.770698	0.98480	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	5.6	5.6	0.85130	.	0.055271	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	19.6126	0.95616	0.0:1.0:0.0:0.0	.	.	.	.	X	43	.	ENSP00000396830:E43X	E	-	1	0	DENND4A	63835716	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.630000	0.89119	0.591000	0.81541	GAA		0.373	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		6	15	1	0	5.9392e-07	1	6.75488e-07	6	15					A	66048662	C	A	66048662	4	1	48	1	0	0	0	0	0	1	0	0	4435	922	32	2	5717	2	DENND4A	15	66048662	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	88877	66048662	36482730	3473	7941										
MEGF11	84465	broad.mit.edu	37	chr15	66206168	66206168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttctctttctgccgccgccGatgccaggcaaataggccca	9	16	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:66206168G>A	ENST00000409699.2	-	20	2789	c.2617C>T	c.(2617-2619)Cgg>Tgg	p.R873W	MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.R798W|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.R873W|MEGF11_ENST00000395625.2_Missense_Mutation_p.R798W|MEGF11_ENST00000395614.1_Missense_Mutation_p.R46W			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	873					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCCGCCGCCGATGCCAGGCA	0.612																																						ENST00000409699.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2617-2619)Cgg>Tgg		multiple EGF-like-domains 11							53	49	50					15																	66206168		2201	4299	6500	SO:0001583	missense	84465					basolateral plasma membrane|integral to membrane		g.chr15:66206168G>A	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2617C>T	15.37:g.66206168G>A	ENSP00000386908:p.Arg873Trp		Somatic				MEGF11_ENST00000422354.1_Missense_Mutation_p.R873W|MEGF11_ENST00000288745.3_Missense_Mutation_p.R798W|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000395614.1_Missense_Mutation_p.R46W|MEGF11_ENST00000395625.2_Missense_Mutation_p.R798W	p.R873W			WXS	Illumina GAIIx	Phase_I	A6BM72	MEG11_HUMAN			20	2789	-			873					Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.2617C>T	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418746	0.83559	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000395614	D;D;D;D;T	0.88201	-2.35;-2.22;-2.35;-2.22;0.55	4.65	4.65	0.58169	.	0.000000	0.38605	U	0.001635	D	0.93949	0.8063	M	0.73217	2.22	0.47183	D	0.999348	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94681	0.7865	10	0.87932	D	0	.	17.7124	0.88325	0.0:0.0:1.0:0.0	.	873;798	A6BM72;A6BM72-2	MEG11_HUMAN;.	W	873;798;873;798;46	ENSP00000386908:R873W;ENSP00000288745:R798W;ENSP00000414475:R873W;ENSP00000378987:R798W;ENSP00000378976:R46W	ENSP00000288745:R798W	R	-	1	2	MEGF11	63993222	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	4.546000	0.60705	2.407000	0.81776	0.555000	0.69702	CGG		0.612	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		12	46	0	0	0	1	0	12	46					A	66206168	G	A	66206168	3	1	48	1	0	0	0	0	1	0	0	0	9470	1057	37	1	533	1	MEGF11	15	66206168	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	157506	66206168	36325224	3474	7942										
DIS3L	115752	broad.mit.edu	37	chr15	66599214	66599214	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgcgcgtcatgattgcattCtctttgctaatgaattccag	8	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:66599214C>A	ENST00000319212.4	+	3	396	c.346C>A	c.(346-348)Ctc>Atc	p.L116I	DIS3L_ENST00000441424.2_Intron|DIS3L_ENST00000319194.5_Missense_Mutation_p.L33I	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	116					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGATTGCATTCTCTTTGCTAA	0.478																																						ENST00000319194.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(97-99)Ctc>Atc		DIS3 mitotic control homolog (S. cerevisiae)-like							142	114	123					15																	66599214		2201	4299	6500	SO:0001583	missense	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66599214C>A		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.346C>A	15.37:g.66599214C>A	ENSP00000321711:p.Leu116Ile		Somatic				DIS3L_ENST00000441424.2_Intron|DIS3L_ENST00000319212.4_Missense_Mutation_p.L116I	p.L33I	NM_133375.3	NP_588616.1	WXS	Illumina GAIIx	Phase_I	Q8TF46	DI3L1_HUMAN			3	358	+			116					Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	c.97C>A	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686086	0.47991	.	.	ENSG00000166938	ENST00000319194;ENST00000525134;ENST00000319212;ENST00000532580;ENST00000530615	T;T	0.23147	1.93;1.92	5.96	4.09	0.47781	.	0.132784	0.48767	D	0.000165	T	0.18964	0.0455	L	0.45228	1.405	0.80722	D	1	B;B	0.28636	0.139;0.218	B;B	0.26094	0.066;0.057	T	0.06144	-1.0843	10	0.39692	T	0.17	-10.3652	5.6492	0.17606	0.0:0.6152:0.1539:0.2309	.	116;116	Q8TF46;Q8TF46-3	DI3L1_HUMAN;.	I	33;33;116;33;33	ENSP00000321583:L33I;ENSP00000321711:L116I	ENSP00000321583:L33I	L	+	1	0	DIS3L	64386268	0.949000	0.32298	0.718000	0.30602	0.913000	0.54294	1.829000	0.39121	0.864000	0.35578	0.655000	0.94253	CTC		0.478	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		21	48	1	0	4.35082e-09	1	5.20082e-09	21	48					A	66599214	C	A	66599214	3	1	48	1	0	0	0	0	1	0	0	0	4538	913	32	2	356	2	DIS3L	15	66599214	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	393046	66599214	35932178	3475	7943										
MAP2K5	5607	broad.mit.edu	37	chr15	68061960	68061960	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gattcgcccgtccttccagtTggagagttctcggagccatt	11	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68061960T>C	ENST00000178640.5	+	20	1782	c.1155T>C	c.(1153-1155)gtT>gtC	p.V385V	MAP2K5_ENST00000354498.5_Silent_p.V349V|MAP2K5_ENST00000395476.2_Silent_p.V375V|MAP2K5_ENST00000340972.4_Silent_p.V195V	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	385	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|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 extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	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)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TCCTTCCAGTTGGAGAGTTCT	0.453																																						ENST00000178640.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						c.(1153-1155)gtT>gtC		mitogen-activated protein kinase kinase 5							142	120	127					15																	68061960		2200	4298	6498	SO:0001819	synonymous_variant	5607				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:68061960T>C	U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"Mitogen-activated protein kinase cascade / Kinase kinases"	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.1155T>C	15.37:g.68061960T>C			Somatic				MAP2K5_ENST00000340972.4_Silent_p.V195V|MAP2K5_ENST00000354498.5_Silent_p.V349V|MAP2K5_ENST00000395476.2_Silent_p.V375V	p.V385V	NM_145160.2	NP_660143.1	WXS	Illumina GAIIx	Phase_I	Q13163	MP2K5_HUMAN			20	1782	+			385			Protein kinase.		B4DE43|Q92961|Q92962	Silent	SNP	ENST00000178640.5	37	c.1155T>C	CCDS10224.1																																																																																				0.453	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257041.1	NM_145162		4	28	0	0	0	1	0	4	28					C	68061960	T	C	68061960	2	2	48	1	0	0	0	0	0	0	0	1	9249	1799	63	4		4	MAP2K5	15	68061960	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1462746	68061960	34469432	3476	7944										
LBXCOR1	390598	broad.mit.edu	37	chr15	68118465	68118465	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggccaggagcgcctatgccTggcgcagatctccaacaccc	11	17	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68118465T>C	ENST00000380035.2	+	2	357	c.299T>C	c.(298-300)cTg>cCg	p.L100P	SKOR1_ENST00000341418.5_Missense_Mutation_p.L286P|SKOR1_ENST00000389002.1_Missense_Mutation_p.L91P|SKOR1_ENST00000554240.1_Missense_Mutation_p.L61P|SKOR1_ENST00000554054.1_Missense_Mutation_p.L72P			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	100					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CGCCTATGCCTGGCGCAGATC	0.627																																						ENST00000380035.2																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						c.(298-300)cTg>cCg		SKI family transcriptional corepressor 1							79	72	74					15																	68118465		2200	4298	6498	SO:0001583	missense	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68118465T>C		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.299T>C	15.37:g.68118465T>C	ENSP00000369374:p.Leu100Pro		Somatic				SKOR1_ENST00000554054.1_Missense_Mutation_p.L72P|SKOR1_ENST00000554240.1_Missense_Mutation_p.L61P|SKOR1_ENST00000341418.5_Missense_Mutation_p.L286P|SKOR1_ENST00000389002.1_Missense_Mutation_p.L91P	p.L100P			WXS	Illumina GAIIx	Phase_I	P84550	SKOR1_HUMAN			2	357	+			100					A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	ENST00000380035.2	37	c.299T>C		.	.	.	.	.	.	.	.	.	.	T	18.11	3.550729	0.65311	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87	4.93	3.8	0.43715	.	0.091063	0.47093	D	0.000244	D	0.94997	0.8381	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94482	0.7694	10	0.87932	D	0	-14.9816	10.8087	0.46533	0.0:0.0:0.1593:0.8407	.	91	P84550-3	.	P	286;61;72;100;91	ENSP00000343200:L286P;ENSP00000451193:L61P;ENSP00000452361:L72P;ENSP00000369374:L100P;ENSP00000373654:L91P	ENSP00000343200:L286P	L	+	2	0	SKOR1	65905519	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.919000	0.87513	0.715000	0.32103	0.459000	0.35465	CTG		0.627	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		6	76	0	0	0	1	0	6	76					C	68118465	T	C	68118465	3	2	48	1	0	0	0	0	1	0	0	0	8664	1580	55	4	278	4	LBXCOR1	15	68118465	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	56505	68118465	34412927	3477	7945										
PIAS1	8554	broad.mit.edu	37	chr15	68378827	68378827	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcggttcccacagaaaatcAtgacgcctgcagacttgtcc	10	13	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68378827A>G	ENST00000249636.6	+	2	356	c.208A>G	c.(208-210)Atg>Gtg	p.M70V	PIAS1_ENST00000545237.1_Missense_Mutation_p.M72V	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	70					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						ACAGAAAATCATGACGCCTGC	0.478																																						ENST00000545237.1																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						c.(214-216)Atg>Gtg		protein inhibitor of activated STAT, 1							119	120	119					15																	68378827		1941	4136	6077	SO:0001583	missense	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68378827A>G	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.208A>G	15.37:g.68378827A>G	ENSP00000249636:p.Met70Val		Somatic				PIAS1_ENST00000249636.6_Missense_Mutation_p.M70V	p.M72V			WXS	Illumina GAIIx	Phase_I	O75925	PIAS1_HUMAN			3	955	+			70					B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	c.214A>G	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	A	6.651	0.488585	0.12641	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.27557	1.66;1.66	5.52	5.52	0.82312	.	0.083032	0.85682	D	0.000000	T	0.08313	0.0207	N	0.00347	-1.61	0.42961	D	0.994406	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25293	-1.0136	10	0.18710	T	0.47	-13.9891	10.5363	0.45007	0.8556:0.0:0.0:0.1444	.	70;70	C5J4B4;O75925	.;PIAS1_HUMAN	V	70;72	ENSP00000249636:M70V;ENSP00000438574:M72V	ENSP00000249636:M70V	M	+	1	0	PIAS1	66165881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.828000	0.62730	2.097000	0.63578	0.528000	0.53228	ATG		0.478	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			36	71	0	0	0	1	0	36	71					G	68378827	A	G	68378827	3	3	48	1	0	0	0	0	1	0	0	0	11884	217	8	4	214	4	PIAS1	15	68378827	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	260362	68378827	34152565	3478	7946										
FEM1B	10116	broad.mit.edu	37	chr15	68583077	68583077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctaccaaaacacagtgcagcGaagaagatcagtgcaaaatt	8	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68583077G>A	ENST00000306917.4	+	2	1996	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	461					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)	p.E461delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						ACAGTGCAGCGAAGAAGATCA	0.403																																						ENST00000306917.4																			1	Deletion - In frame(1)	p.E461delE(1)	ovary(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(1381-1383)Gaa>Aaa		fem-1 homolog b (C. elegans)							143	130	134					15																	68583077		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.chr15:68583077G>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.1381G>A	15.37:g.68583077G>A	ENSP00000307298:p.Glu461Lys		Somatic					p.E461K	NM_015322.3	NP_056137.1	WXS	Illumina GAIIx	Phase_I	Q9UK73	FEM1B_HUMAN			2	1996	+			461					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.1381G>A	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537717	0.65085	.	.	ENSG00000169018	ENST00000306917	T	0.45668	0.89	5.95	5.95	0.96441	.	0.088882	0.85682	D	0.000000	T	0.34513	0.0900	L	0.47716	1.5	0.80722	D	1	P	0.42556	0.783	B	0.31686	0.134	T	0.12630	-1.0540	10	0.19590	T	0.45	-10.9522	19.36	0.94432	0.0:0.0:1.0:0.0	.	461	Q9UK73	FEM1B_HUMAN	K	461	ENSP00000307298:E461K	ENSP00000307298:E461K	E	+	1	0	FEM1B	66370131	1.000000	0.71417	0.957000	0.39632	0.847000	0.48162	7.989000	0.88205	2.826000	0.97356	0.491000	0.48974	GAA		0.403	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			30	67	0	0	0	1	0	30	67					A	68583077	G	A	68583077	3	1	48	1	0	0	0	0	1	0	0	0	5818	1059	37	1	1387	1	FEM1B	15	68583077	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	204250	68583077	33948315	3479	7947										
ITGA11	22801	broad.mit.edu	37	chr15	68654041	68654041	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagaccagagggggctgcagGcctggggagggcagtgcaga	21	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68654041G>A	ENST00000315757.7	-	5	445	c.359C>T	c.(358-360)gCc>gTc	p.A120V	ITGA11_ENST00000423218.2_Splice_Site_p.A120V|ITGA11_ENST00000562826.1_5'UTR	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	120					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GGGGCTGCAGGCCTGGGGAGG	0.602																																						ENST00000423218.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.e5-1		integrin, alpha 11	Tirofiban(DB00775)						34	34	34					15																	68654041		1949	4138	6087	SO:0001630	splice_region_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68654041G>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.358-1C>T	15.37:g.68654041G>A			Somatic				ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000315757.7_Splice_Site_p.A120_splice	p.A120_splice			WXS	Illumina GAIIx	Phase_I	Q9UKX5	ITA11_HUMAN			5	454	-			120					J3KQM2|Q8WYI8|Q9UKQ1	Splice_Site	SNP	ENST00000315757.7	37	c.357_splice	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171426	0.94807	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	T;T	0.70516	-0.49;-0.49	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	D	0.82981	0.5155	M	0.76727	2.345	0.58432	D	0.999998	D;D	0.89917	1.0;0.994	D;P	0.70016	0.967;0.851	D	0.83695	0.0179	10	0.44086	T	0.13	.	16.9346	0.86200	0.0:0.0:1.0:0.0	.	120;120	A8K8T0;Q9UKX5	.;ITA11_HUMAN	V	120	ENSP00000327290:A120V;ENSP00000403392:A120V	ENSP00000327290:A120V	A	-	2	0	ITGA11	66441095	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	8.001000	0.88508	2.287000	0.76781	0.561000	0.74099	GCC		0.602	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	Missense_Mutation	5	18	0	0	0	1	0	5	18					A	68654041	G	A	68654041	5	1	48	1	0	0	0	0	0	0	1	0	7883	1217	42	3	3311	3	ITGA11	15	68654041	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	70964	68654041	33877351	3480	7948										
ANP32A	8125	broad.mit.edu	37	chr15	69076874	69076874	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaacacattttctcggtagtCgttcaggttggttacctcgc	10	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:69076874C>T	ENST00000465139.2	-	4	531	c.388G>A	c.(388-390)Gac>Aac	p.D130N	ANP32A_ENST00000560303.1_Missense_Mutation_p.D130N|ANP32A_ENST00000483551.2_5'UTR	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	130	LRRCT.				gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						TCTCGGTAGTCGTTCAGGTTG	0.483																																						ENST00000465139.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(388-390)Gac>Aac		acidic (leucine-rich) nuclear phosphoprotein 32 family, member A							103	108	106					15																	69076874		2200	4298	6498	SO:0001583	missense	8125				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding	g.chr15:69076874C>T	AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"ANP32 acidic nuclear phosphoproteins"	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.388G>A	15.37:g.69076874C>T	ENSP00000417864:p.Asp130Asn		Somatic				ANP32A_ENST00000560303.1_Missense_Mutation_p.D130N|ANP32A_ENST00000483551.2_5'UTR	p.D130N	NM_006305.3	NP_006296.1	WXS	Illumina GAIIx	Phase_I	P39687	AN32A_HUMAN			4	531	-			130			LRRCT.		B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Missense_Mutation	SNP	ENST00000465139.2	37	c.388G>A	CCDS45292.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558714	0.45590	.	.	ENSG00000140350	ENST00000358235;ENST00000465139	T	0.54479	0.57	5.5	4.58	0.56647	U2A&apos (1);/phosphoprotein 32 family A, C-terminal (1);	0.090555	0.85682	D	0.000000	T	0.26557	0.0649	N	0.04260	-0.245	0.54753	D	0.999988	B	0.27498	0.18	B	0.21917	0.037	T	0.16247	-1.0409	10	0.07813	T	0.8	.	13.8174	0.63301	0.0:0.9251:0.0:0.0749	.	130	P39687	AN32A_HUMAN	N	130	ENSP00000417864:D130N	ENSP00000350970:D130N	D	-	1	0	ANP32A	66863928	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.689000	0.68234	2.580000	0.87095	0.655000	0.94253	GAC		0.483	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335525.2			36	48	0	0	0	1	0	36	48					T	69076874	C	T	69076874	3	4	48	1	0	0	0	0	1	0	0	0	705	884	31	1	377	1	ANP32A	15	69076874	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	422833	69076874	33454518	3481	7949										
SPESP1	246777	broad.mit.edu	37	chr15	69238254	69238254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctggtcgatcaaaccaaaCaatgtttccattgttttgca	6	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:69238254C>T	ENST00000310673.3	+	2	535	c.381C>T	c.(379-381)aaC>aaT	p.N127N	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	127					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						TCAAACCAAACAATGTTTCCA	0.443																																						ENST00000310673.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(379-381)aaC>aaT		sperm equatorial segment protein 1							54	56	55					15																	69238254		2200	4298	6498	SO:0001819	synonymous_variant	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238254C>T	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.381C>T	15.37:g.69238254C>T			Somatic				SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron	p.N127N	NM_145658.3	NP_663633.1	WXS	Illumina GAIIx	Phase_I	Q6UW49	SPESP_HUMAN			2	535	+			127					Q8NG22|Q8WVH8	Silent	SNP	ENST00000310673.3	37	c.381C>T	CCDS10230.1																																																																																				0.443	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		17	38	0	0	0	1	0	17	38					T	69238254	C	T	69238254	2	4	48	1	0	0	0	0	0	0	0	1	15055	477	17	3		3	SPESP1	15	69238254	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	161380	69238254	33293138	3482	7950										
SPESP1	246777	broad.mit.edu	37	chr15	69238515	69238515	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atagaaaaacccgaagagttTggaaagcacccagagagttg	11	7	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:69238515T>G	ENST00000310673.3	+	2	796	c.642T>G	c.(640-642)ttT>ttG	p.F214L	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	214					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						CCGAAGAGTTTGGAAAGCACC	0.403																																						ENST00000310673.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(640-642)ttT>ttG		sperm equatorial segment protein 1							67	71	70					15																	69238515		2200	4298	6498	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238515T>G	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.642T>G	15.37:g.69238515T>G	ENSP00000312284:p.Phe214Leu		Somatic				NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron	p.F214L	NM_145658.3	NP_663633.1	WXS	Illumina GAIIx	Phase_I	Q6UW49	SPESP_HUMAN			2	796	+			214					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.642T>G	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	T	6.202	0.405353	0.11754	.	.	ENSG00000258484	ENST00000310673	T	0.21191	2.02	3.85	-0.212	0.13169	.	1.465490	0.04637	N	0.404640	T	0.06050	0.0157	N	0.01576	-0.805	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.32693	-0.9897	10	0.02654	T	1	0.3144	4.3529	0.11163	0.0:0.1169:0.4124:0.4707	.	214	Q6UW49	SPESP_HUMAN	L	214	ENSP00000312284:F214L	ENSP00000312284:F214L	F	+	3	2	SPESP1	67025569	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.842000	0.27627	0.167000	0.19631	-0.460000	0.05396	TTT		0.403	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		47	67	0	0	0	1	0	47	67					G	69238515	T	G	69238515	3	3	48	1	0	0	0	0	1	0	0	0	15055	1809	63	4	648	4	SPESP1	15	69238515	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	261	69238515	33292877	3483	7951										
KIF23	9493	broad.mit.edu	37	chr15	69715499	69715499	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaacttttctttttttagaCgacaagtagatccagagttt	7	6	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:69715499C>T	ENST00000260363.4	+	7	682	c.565C>T	c.(565-567)Cga>Tga	p.R189*	KIF23_ENST00000537891.1_5'UTR|KIF23_ENST00000558585.1_5'UTR|KIF23_ENST00000395392.2_Splice_Site_p.R189*|KIF23_ENST00000559279.1_Splice_Site_p.R189*|KIF23_ENST00000352331.4_Splice_Site_p.R189*	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	189	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TTTTTTTAGACGACAAGTAGA	0.373																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.e7-1		kinesin family member 23							64	72	70					15																	69715499		2199	4298	6497	SO:0001630	splice_region_variant	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69715499C>T	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.564-1C>T	15.37:g.69715499C>T			Somatic				KIF23_ENST00000352331.4_Splice_Site_p.R189_splice|KIF23_ENST00000559279.1_Splice_Site_p.R189_splice|KIF23_ENST00000537891.1_5'UTR|KIF23_ENST00000558585.1_5'UTR|KIF23_ENST00000395392.2_Splice_Site_p.R189_splice	p.R189_splice	NM_138555.2	NP_612565.1	WXS	Illumina GAIIx	Phase_I	Q02241	KIF23_HUMAN			7	682	+			189			Kinesin-motor.		Q8WVP0	Splice_Site	SNP	ENST00000260363.4	37	c.563_splice	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	C	38	6.815076	0.97857	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392	.	.	.	5.4	5.4	0.78164	.	0.126264	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1078	0.89526	0.0:1.0:0.0:0.0	.	.	.	.	X	189	.	ENSP00000260363:R189X	R	+	1	2	KIF23	67502553	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	3.214000	0.51161	2.680000	0.91292	0.563000	0.77884	CGA		0.373	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding			Nonsense_Mutation	12	30	0	0	0	1	0	12	30					T	69715499	C	T	69715499	5	4	48	1	0	0	0	0	0	0	1	0	8300	550	19	1	591	1	KIF23	15	69715499	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	476984	69715499	32815893	3484	7952										
UACA	55075	broad.mit.edu	37	chr15	70960671	70960671	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtcattttccagtagcaaTttctccatttccaacttctt	3	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:70960671T>A	ENST00000322954.6	-	16	2537	c.2352A>T	c.(2350-2352)aaA>aaT	p.K784N	UACA_ENST00000539319.1_Missense_Mutation_p.K675N|UACA_ENST00000560441.1_Missense_Mutation_p.K769N|UACA_ENST00000379983.2_Missense_Mutation_p.K771N	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	784					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						CCAGTAGCAATTTCTCCATTT	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.(2350-2352)aaA>aaT		uveal autoantigen with coiled-coil domains and ankyrin repeats							65	65	65					15																	70960671		2199	4295	6494	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70960671T>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.2352A>T	15.37:g.70960671T>A	ENSP00000314556:p.Lys784Asn		Somatic				UACA_ENST00000539319.1_Missense_Mutation_p.K675N|UACA_ENST00000560441.1_Missense_Mutation_p.K769N|UACA_ENST00000379983.2_Missense_Mutation_p.K771N	p.K784N	NM_018003.2	NP_060473.2	WXS	Illumina GAIIx	Phase_I	Q9BZF9	UACA_HUMAN			16	2537	-			784					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.2352A>T	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.285688	0.23478	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.36878	1.23;1.24;1.71	5.55	0.178	0.15058	.	0.413145	0.22766	N	0.055896	T	0.30978	0.0782	L	0.50333	1.59	0.29812	N	0.831566	P;P;P;P	0.45348	0.835;0.611;0.856;0.731	P;B;B;B	0.45406	0.479;0.357;0.411;0.302	T	0.25641	-1.0126	10	0.72032	D	0.01	-30.6966	4.5073	0.11894	0.2101:0.2975:0.0:0.4925	.	675;784;784;771	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	N	784;771;675	ENSP00000314556:K784N;ENSP00000369319:K771N;ENSP00000438667:K675N	ENSP00000314556:K784N	K	-	3	2	UACA	68747725	0.009000	0.17119	0.552000	0.28243	0.193000	0.23685	-0.060000	0.11712	0.124000	0.18369	0.533000	0.62120	AAA		0.328	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			7	21	0	0	0	1	0	7	21					A	70960671	T	A	70960671	3	1	48	1	0	0	0	0	1	0	0	0	16839	1490	52	4	1914	4	UACA	15	70960671	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1245172	70960671	31570721	3485	7953										
MYO9A	4649	broad.mit.edu	37	chr15	72190380	72190380	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgtttagcttttctaacttCttaagcacaggattagaaga	8	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:72190380C>A	ENST00000356056.5	-	25	4936	c.4464G>T	c.(4462-4464)aaG>aaT	p.K1488N	MYO9A_ENST00000444904.1_Missense_Mutation_p.K1469N|MYO9A_ENST00000566885.1_Missense_Mutation_p.K1108N|MYO9A_ENST00000564571.1_Missense_Mutation_p.K1488N|MYO9A_ENST00000424560.1_Missense_Mutation_p.K1488N|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1488	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTCTAACTTCTTAAGCACAG	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.(4462-4464)aaG>aaT		myosin IXA							99	94	95					15																	72190380		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.chr15:72190380C>A	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.4464G>T	15.37:g.72190380C>A	ENSP00000348349:p.Lys1488Asn		Somatic				MYO9A_ENST00000564571.1_Missense_Mutation_p.K1488N|MYO9A_ENST00000444904.1_Missense_Mutation_p.K1469N|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.K1488N|MYO9A_ENST00000566885.1_Missense_Mutation_p.K1108N	p.K1488N	NM_006901.3	NP_008832.2	WXS	Illumina GAIIx	Phase_I	B2RTY4	MYO9A_HUMAN			25	4936	-			1488			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.4464G>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230965	0.58777	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.84944	-1.92;-1.91;-1.91	5.88	3.94	0.45596	.	.	.	.	.	T	0.76513	0.3998	N	0.14661	0.345	0.36294	D	0.856587	P;P;B	0.46512	0.493;0.879;0.181	B;P;B	0.45829	0.265;0.494;0.031	T	0.81267	-0.1010	9	0.59425	D	0.04	.	10.4552	0.44546	0.0:0.8368:0.0:0.1632	.	1469;1488;1488	B2RTY4-2;B2RTY4-4;B2RTY4	.;.;MYO9A_HUMAN	N	1488;1488;1469	ENSP00000348349:K1488N;ENSP00000399162:K1488N;ENSP00000398250:K1469N	ENSP00000348349:K1488N	K	-	3	2	MYO9A	69977434	1.000000	0.71417	0.994000	0.49952	0.861000	0.49209	2.921000	0.48852	1.413000	0.46997	0.644000	0.83932	AAG		0.378	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		16	42	1	0	6.94344e-10	1	8.4399e-10	16	42					A	72190380	C	A	72190380	3	1	48	1	0	0	0	0	1	0	0	0	10093	912	32	2	3254	2	MYO9A	15	72190380	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1229709	72190380	30341012	3486	7954										
PKM2	5315	broad.mit.edu	37	chr15	72499185	72499185	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacatcactgccttcagcccGagtggggcggggcttcttga	13	13	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:72499185G>A	ENST00000335181.5	-	8	1127	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	PKM_ENST00000449901.2_Missense_Mutation_p.R327W|PKM_ENST00000565154.1_Missense_Mutation_p.R342W|PKM_ENST00000319622.6_Missense_Mutation_p.R342W|PKM_ENST00000568883.1_Missense_Mutation_p.R177W|PKM_ENST00000389093.3_Missense_Mutation_p.R342W|PKM_ENST00000565184.1_Missense_Mutation_p.R342W|PKM_ENST00000568459.1_Missense_Mutation_p.R342W	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	342	Interaction with POU5F1.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	CCTTCAGCCCGAGTGGGGCGG	0.547																																						ENST00000319622.6																			0				endometrium(1)|lung(7)	8						c.(1024-1026)Cgg>Tgg		pyruvate kinase, muscle							40	38	39					15																	72499185		2199	4297	6496	SO:0001583	missense	5315							g.chr15:72499185G>A	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.1024C>T	15.37:g.72499185G>A	ENSP00000334983:p.Arg342Trp		Somatic				PKM_ENST00000335181.5_Missense_Mutation_p.R342W|PKM_ENST00000565154.1_Missense_Mutation_p.R342W|PKM_ENST00000389093.3_Missense_Mutation_p.R342W|PKM_ENST00000565184.1_Missense_Mutation_p.R342W|PKM_ENST00000568883.1_Missense_Mutation_p.R177W|PKM_ENST00000449901.2_Missense_Mutation_p.R327W|PKM_ENST00000568459.1_Missense_Mutation_p.R342W	p.R342W	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1	WXS	Illumina GAIIx	Phase_I					8	1480	-								A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	37	c.1024C>T	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740156	0.69304	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000434220;ENST00000327974;ENST00000389093;ENST00000449901	D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77	5.23	4.31	0.51392	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	H	0.99454	4.575	0.80722	D	1	D;P;B;D;P;B;P;P;P	0.69078	0.963;0.869;0.424;0.997;0.78;0.371;0.946;0.925;0.946	P;B;B;P;B;B;P;B;P	0.60068	0.448;0.37;0.211;0.868;0.412;0.095;0.649;0.37;0.649	D	0.96386	0.9285	10	0.87932	D	0	-11.4155	15.5438	0.76077	0.0:0.0:0.8608:0.1392	.	268;327;322;322;342;342;177;269;177	B4DNK4;B4DUU6;B4DRT3;E7EUQ8;P14618;P14618-2;Q504U3;E9PF79;E7EUJ4	.;.;.;.;KPYM_HUMAN;.;.;.;.	W	342;342;269;177;342;327	ENSP00000320171:R342W;ENSP00000334983:R342W;ENSP00000373745:R342W;ENSP00000403365:R327W	ENSP00000320171:R342W	R	-	1	2	PKM2	70286239	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.704000	0.74639	1.315000	0.45114	0.561000	0.74099	CGG		0.547	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			17	28	0	0	0	1	0	17	28					A	72499185	G	A	72499185	3	1	48	1	0	0	0	0	1	0	0	0	11986	1057	37	1	758	1	PKM2	15	72499185	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	308805	72499185	30032207	3487	7955										
ARIH1	25820	broad.mit.edu	37	chr15	72855808	72855808	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtccaatatcctgatgctaAacctgttcgctgcaaatgtg	8	10	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:72855808A>G	ENST00000379887.4	+	7	1192	c.878A>G	c.(877-879)aAa>aGa	p.K293R		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	293					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						CCTGATGCTAAACCTGTTCGC	0.393																																						ENST00000379887.4																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						c.(877-879)aAa>aGa		ariadne RBR E3 ubiquitin protein ligase 1							126	119	121					15																	72855808		2198	4297	6495	SO:0001583	missense	25820				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:72855808A>G	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"ariadne, Drosophila, homolog of"	605624	"ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1", "ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.878A>G	15.37:g.72855808A>G	ENSP00000369217:p.Lys293Arg		Somatic					p.K293R	NM_005744.3	NP_005735.2	WXS	Illumina GAIIx	Phase_I	Q9Y4X5	ARI1_HUMAN			7	1192	+			293					B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	37	c.878A>G	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.488378	0.26686	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	T	0.63096	-0.02	5.75	5.75	0.90469	Zinc finger, C6HC-type (2);Zinc finger, RING-type (1);	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	N	0.02830	-0.485	0.80722	D	1	B	0.10296	0.003	B	0.17433	0.018	T	0.40098	-0.9581	10	0.02654	T	1	.	16.0982	0.81144	1.0:0.0:0.0:0.0	.	293	Q9Y4X5	ARI1_HUMAN	R	293;263	ENSP00000369217:K293R	ENSP00000299305:K263R	K	+	2	0	ARIH1	70642862	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.960000	0.93117	2.202000	0.70862	0.449000	0.29647	AAA		0.393	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		11	44	0	0	0	1	0	11	44					G	72855808	A	G	72855808	3	3	48	1	0	0	0	0	1	0	0	0	923	14	1	4	904	4	ARIH1	15	72855808	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	356623	72855808	29675584	3488	7956										
ADPGK	83440	broad.mit.edu	37	chr15	73045231	73045231	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agggaagtcaccgcgggaaaGacctgctaacaaaaacaaca	10	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:73045231G>A	ENST00000311669.8	-	7	1035	c.942C>T	c.(940-942)gtC>gtT	p.V314V	ADPGK_ENST00000567733.1_5'Flank|ADPGK_ENST00000456471.2_Silent_p.V40V	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	315	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						CCGCGGGAAAGACCTGCTAAC	0.483																																						ENST00000311669.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						c.(940-942)gtC>gtT		ADP-dependent glucokinase							29	29	29					15																	73045231		1923	4101	6024	SO:0001819	synonymous_variant	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73045231G>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.942C>T	15.37:g.73045231G>A			Somatic				ADPGK_ENST00000456471.2_Silent_p.V40V	p.V314V	NM_031284.4	NP_112574.3	WXS	Illumina GAIIx	Phase_I	Q9BRR6	ADPGK_HUMAN			7	1035	-			315			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Silent	SNP	ENST00000311669.8	37	c.942C>T	CCDS42057.1																																																																																				0.483	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284		22	24	0	0	0	1	0	22	24					A	73045231	G	A	73045231	2	1	48	1	0	0	0	0	0	0	0	1	330	929	33	3		3	ADPGK	15	73045231	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	189423	73045231	29486161	3489	7957										
NEO1	4756	broad.mit.edu	37	chr15	73470720	73470720	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcagtgcattgctgaaaatGatgttggaaatgcacaagct	10	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:73470720G>T	ENST00000339362.5	+	8	1690	c.1243G>T	c.(1243-1245)Gat>Tat	p.D415Y	NEO1_ENST00000558964.1_Missense_Mutation_p.D415Y|NEO1_ENST00000560262.1_Missense_Mutation_p.D415Y|NEO1_ENST00000261908.6_Missense_Mutation_p.D415Y			Q92859	NEO1_HUMAN	neogenin 1	415	Ig-like C2-type 4.				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						TGCTGAAAATGATGTTGGAAA	0.383																																						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.(1243-1245)Gat>Tat		neogenin 1							111	105	107					15																	73470720		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.chr15:73470720G>T	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.1243G>T	15.37:g.73470720G>T	ENSP00000341198:p.Asp415Tyr		Somatic				NEO1_ENST00000261908.6_Missense_Mutation_p.D415Y|NEO1_ENST00000558964.1_Missense_Mutation_p.D415Y|NEO1_ENST00000560262.1_Missense_Mutation_p.D415Y	p.D415Y			WXS	Illumina GAIIx	Phase_I	Q92859	NEO1_HUMAN			8	1690	+			415			Ig-like C2-type 4.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.1243G>T	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823601	0.90873	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.67523	-0.27;-0.27	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.089261	0.85682	D	0.000000	T	0.80380	0.4612	L	0.60455	1.87	0.80722	D	1	D;D;P;D	0.71674	0.998;0.985;0.837;0.997	D;D;P;D	0.74348	0.983;0.95;0.903;0.976	T	0.80016	-0.1559	10	0.59425	D	0.04	-19.4476	20.0205	0.97499	0.0:0.0:1.0:0.0	.	415;415;133;415	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	Y	415;133;415	ENSP00000341198:D415Y;ENSP00000261908:D415Y	ENSP00000261908:D415Y	D	+	1	0	NEO1	71257773	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.416000	0.97383	2.801000	0.96364	0.650000	0.86243	GAT		0.383	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		5	18	1	0	0.014758	1	0.015099	5	18					T	73470720	G	T	73470720	3	4	48	1	0	0	0	0	1	0	0	0	10345	1290	45	2	1269	2	NEO1	15	73470720	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	425489	73470720	29060672	3490	7958										
NEO1	4756	broad.mit.edu	37	chr15	73566199	73566199	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaatgcagagatacatgacTgggttattgagcctgttgtg	13	5	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:73566199T>C	ENST00000339362.5	+	21	3460	c.3013T>C	c.(3013-3015)Tgg>Cgg	p.W1005R	NEO1_ENST00000558964.1_Missense_Mutation_p.W1005R|NEO1_ENST00000560262.1_Missense_Mutation_p.W1005R|NEO1_ENST00000261908.6_Missense_Mutation_p.W1005R			Q92859	NEO1_HUMAN	neogenin 1	1005	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GATACATGACTGGGTTATTGA	0.403																																						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.(3013-3015)Tgg>Cgg		neogenin 1							145	133	137					15																	73566199		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.chr15:73566199T>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.3013T>C	15.37:g.73566199T>C	ENSP00000341198:p.Trp1005Arg		Somatic				NEO1_ENST00000261908.6_Missense_Mutation_p.W1005R|NEO1_ENST00000558964.1_Missense_Mutation_p.W1005R|NEO1_ENST00000560262.1_Missense_Mutation_p.W1005R	p.W1005R			WXS	Illumina GAIIx	Phase_I	Q92859	NEO1_HUMAN			21	3460	+			1005			Fibronectin type-III 6.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.3013T>C	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.539750	0.85917	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.58652	0.32;0.32	5.95	5.95	0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80352	0.4607	M	0.89353	3.025	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	0.83716	0.0190	10	0.62326	D	0.03	-6.2251	16.4237	0.83790	0.0:0.0:0.0:1.0	.	1005;1005;727;1005	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	R	1005;727;1005	ENSP00000341198:W1005R;ENSP00000261908:W1005R	ENSP00000261908:W1005R	W	+	1	0	NEO1	71353252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	TGG		0.403	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		18	41	0	0	0	1	0	18	41					C	73566199	T	C	73566199	3	2	48	1	0	0	0	0	1	0	0	0	10345	1580	55	4	3091	4	NEO1	15	73566199	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	95479	73566199	28965193	3491	7959										
TBC1D21	161514	broad.mit.edu	37	chr15	74174038	74174038	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaattcctcacgggctacttCtcatggcagagttcccagga	9	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:74174038C>A	ENST00000300504.2	+	3	305	c.222C>A	c.(220-222)ttC>ttA	p.F74L	TBC1D21_ENST00000562056.1_Missense_Mutation_p.F74L|TBC1D21_ENST00000535547.2_Missense_Mutation_p.F38L	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	74	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CGGGCTACTTCTCATGGCAGA	0.617																																						ENST00000300504.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(220-222)ttC>ttA		TBC1 domain family, member 21							56	54	55					15																	74174038		2198	4297	6495	SO:0001583	missense	161514					intracellular	Rab GTPase activator activity	g.chr15:74174038C>A	BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"male germ cell-specific expressed, containing a RabGAP domain"					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.222C>A	15.37:g.74174038C>A	ENSP00000300504:p.Phe74Leu		Somatic				TBC1D21_ENST00000535547.2_Missense_Mutation_p.F38L|TBC1D21_ENST00000562056.1_Missense_Mutation_p.F74L	p.F74L	NM_153356.1	NP_699187.1	WXS	Illumina GAIIx	Phase_I	Q8IYX1	TBC21_HUMAN			3	305	+			74			Rab-GAP TBC.		B9A6M2	Missense_Mutation	SNP	ENST00000300504.2	37	c.222C>A	CCDS10252.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053164	0.36181	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	T;T	0.03580	3.88;3.88	4.92	2.72	0.32119	Rab-GAP/TBC domain (4);	0.173808	0.27831	N	0.017665	T	0.01905	0.0060	N	0.08118	0	0.23298	N	0.997953	B;B	0.18310	0.027;0.015	B;B	0.24701	0.055;0.048	T	0.45862	-0.9232	10	0.33141	T	0.24	.	4.0956	0.09990	0.2345:0.6409:0.0:0.1246	.	38;74	B9A6M2;Q8IYX1	.;TBC21_HUMAN	L	74;38	ENSP00000300504:F74L;ENSP00000439325:F38L	ENSP00000300504:F74L	F	+	3	2	TBC1D21	71961091	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.613000	0.24299	2.279000	0.76181	0.563000	0.77884	TTC		0.617	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268994.1	NM_153356		21	44	1	0	1.96292e-10	1	2.40731e-10	21	44					A	74174038	C	A	74174038	3	1	48	1	0	0	0	0	1	0	0	0	15625	912	32	2	232	2	TBC1D21	15	74174038	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	607839	74174038	28357354	3492	7960										
C15orf27	123591	broad.mit.edu	37	chr15	76462186	76462186	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggattgtggtgcttgggatCtgggattacatcgaaaacaa	13	6	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:76462186C>A	ENST00000388942.3	+	6	762	c.486C>A	c.(484-486)atC>atA	p.I162I		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	162					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TGCTTGGGATCTGGGATTACA	0.498																																						ENST00000388942.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(484-486)atC>atA		chromosome 15 open reading frame 27							293	294	294					15																	76462186		1922	4125	6047	SO:0001819	synonymous_variant	123591					integral to membrane		g.chr15:76462186C>A	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.486C>A	15.37:g.76462186C>A			Somatic					p.I162I	NM_152335.2	NP_689548.2	WXS	Illumina GAIIx	Phase_I	Q2M3C6	CO027_HUMAN			6	762	+			162					Q8N993|Q96LL5	Silent	SNP	ENST00000388942.3	37	c.486C>A	CCDS10289.2																																																																																				0.498	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		86	152	1	0	5.56898e-48	1	8.07487e-48	86	152					A	76462186	C	A	76462186	2	1	48	1	0	0	0	0	0	0	0	1	1790	903	32	2		2	C15orf27	15	76462186	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2288148	76462186	26069206	3493	7961										
PSTPIP1	9051	broad.mit.edu	37	chr15	77329411	77329411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agatgagctggacctgtccgCgggagacatcctggaggtga	16	9	0	4	rs202205180	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:77329411C>T	ENST00000558012.1	+	15	1634	c.1145C>T	c.(1144-1146)gCg>gTg	p.A382V	PSTPIP1_ENST00000559295.1_Missense_Mutation_p.A363V|PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.A379V|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.A362V	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	382	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GACCTGTCCGCGGGAGACATC	0.627													c|||	2	0.000399361	8e-04	0	5008	,	,		19183	0		0.001	False		,,,				2504	0					ENST00000558012.1																			0				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(1144-1146)gCg>gTg		proline-serine-threonine phosphatase interacting protein 1							75	89	85					15																	77329411		2019	4173	6192	SO:0001583	missense	9051				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity	g.chr15:77329411C>T	U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"CD2 cytoplasmic tail-binding protein", "CD2 antigen-binding protein 1", "PEST phosphatase-interacting protein 1"	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.1145C>T	15.37:g.77329411C>T	ENSP00000452746:p.Ala382Val		Somatic				PSTPIP1_ENST00000559295.1_Missense_Mutation_p.A363V|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.A362V|PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.A379V	p.A382V	NM_003978.3	NP_003969.2	WXS	Illumina GAIIx	Phase_I	O43586	PPIP1_HUMAN			15	1634	+			382			SH3.		B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP	ENST00000558012.1	37	c.1145C>T	CCDS45312.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	0.086	-1.175850	0.01646	.	.	ENSG00000140368	ENST00000379595;ENST00000267939	T	0.32023	1.47	4.48	3.56	0.40772	Src homology-3 domain (5);	0.762936	0.12813	N	0.437035	T	0.15132	0.0365	N	0.05124	-0.11	0.09310	N	1	B;B;B	0.18461	0.028;0.006;0.02	B;B;B	0.15870	0.005;0.014;0.008	T	0.15492	-1.0435	10	0.52906	T	0.07	-26.738	7.2091	0.25923	0.1693:0.7379:0.0:0.0928	.	363;362;382	O43586-2;C9K004;O43586	.;.;PPIP1_HUMAN	V	382;362	ENSP00000267939:A362V	ENSP00000267939:A362V	A	+	2	0	PSTPIP1	75116466	0.000000	0.05858	0.145000	0.22337	0.012000	0.07955	0.246000	0.18160	1.094000	0.41399	0.586000	0.80456	GCG		0.627	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000419373.2	NM_003978		19	42	0	0	0	1	0	19	42					T	77329411	C	T	77329411	3	4	48	1	0	0	0	0	1	0	0	0	12733	768	27	1	1203	1	PSTPIP1	15	77329411	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	867225	77329411	25201981	3494	7962										
SGK269	79834	broad.mit.edu	37	chr15	77473298	77473298	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgtccataagagaccacaGaattttcctcataaccattc	4	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:77473298G>T	ENST00000560626.2	-	4	1446	c.971C>A	c.(970-972)tCt>tAt	p.S324Y	PEAK1_ENST00000558305.1_Missense_Mutation_p.S324Y|PEAK1_ENST00000312493.4_Missense_Mutation_p.S324Y			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	324	Ser-rich.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										AGAGACCACAGAATTTTCCTC	0.443																																						ENST00000560626.2																			0											c.(970-972)tCt>tAt		pseudopodium-enriched atypical kinase 1							86	77	80					15																	77473298		1924	4138	6062	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77473298G>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.971C>A	15.37:g.77473298G>T	ENSP00000452796:p.Ser324Tyr		Somatic				PEAK1_ENST00000558305.1_Missense_Mutation_p.S324Y|PEAK1_ENST00000312493.4_Missense_Mutation_p.S324Y	p.S324Y			WXS	Illumina GAIIx	Phase_I	Q9H792	PEAK1_HUMAN			4	1446	-			324			Ser-rich.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.971C>A	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426054	0.43020	.	.	ENSG00000173517	ENST00000312493	T	0.71341	-0.56	5.3	5.3	0.74995	.	0.587506	0.12189	U	0.491334	T	0.68393	0.2996	L	0.27053	0.805	0.35713	D	0.816549	P	0.51653	0.947	P	0.47744	0.556	T	0.75961	-0.3133	10	0.87932	D	0	-6.7486	17.136	0.86739	0.0:0.0:1.0:0.0	.	324	Q9H792	PEAK1_HUMAN	Y	324	ENSP00000309230:S324Y	ENSP00000309230:S324Y	S	-	2	0	AC087465.1	75260353	1.000000	0.71417	0.995000	0.50966	0.932000	0.56968	3.356000	0.52269	2.469000	0.83416	0.557000	0.71058	TCT		0.443	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			25	34	1	0	5.35356e-11	1	6.62625e-11	25	34					T	77473298	G	T	77473298	3	4	48	1	0	0	0	0	1	0	0	0	14226	942	33	2	4285	2	SGK269	15	77473298	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	143887	77473298	25058094	3495	7963										
CRABP1	1381	broad.mit.edu	37	chr15	78633519	78633519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgagatcaacttcaaggtcGgagaaggctttgaggaggag	15	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:78633519G>A	ENST00000299529.6	+	2	310	c.205G>A	c.(205-207)Gga>Aga	p.G69R		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	69					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoic acid binding (GO:0001972)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Tretinoin(DB00755)	CTTCAAGGTCGGAGAAGGCTT	0.637																																					Ovarian(146;578 3231 38536)	ENST00000299529.6																			0				breast(1)|lung(4)|skin(1)	6						c.(205-207)Gga>Aga		cellular retinoic acid binding protein 1	Alitretinoin(DB00523)|Etretinate(DB00926)						72	50	57					15																	78633519		2194	4293	6487	SO:0001583	missense	1381				multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity	g.chr15:78633519G>A		CCDS10301.1	15q24	2013-03-01	2001-11-28		ENSG00000166426	ENSG00000166426		"Fatty acid binding protein family"	2338	protein-coding gene	gene with protein product		180230	"cellular retinoic acid-binding protein 1"	RBP5		9154115	Standard	NM_004378		Approved	CRABP, CRABP-I, CRABPI	uc002bdp.2	P29762	OTTHUMG00000143862	ENST00000299529.6:c.205G>A	15.37:g.78633519G>A	ENSP00000299529:p.Gly69Arg		Somatic					p.G69R	NM_004378.2	NP_004369.1	WXS	Illumina GAIIx	Phase_I	P29762	RABP1_HUMAN			2	310	+			69					Q6IAY7|Q8WTV5	Missense_Mutation	SNP	ENST00000299529.6	37	c.205G>A	CCDS10301.1	.	.	.	.	.	.	.	.	.	.	G	35	5.475947	0.96291	.	.	ENSG00000166426	ENST00000299529	T	0.10099	2.91	5.32	5.32	0.75619	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	T	0.42877	0.1222	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.52801	-0.8527	10	0.87932	D	0	.	18.0024	0.89201	0.0:0.0:1.0:0.0	.	69	P29762	RABP1_HUMAN	R	69	ENSP00000299529:G69R	ENSP00000299529:G69R	G	+	1	0	CRABP1	76420574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.188000	0.94921	2.475000	0.83589	0.655000	0.94253	GGA		0.637	CRABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290110.2	NM_004378		5	14	0	0	0	1	0	5	14					A	78633519	G	A	78633519	3	1	48	1	0	0	0	0	1	0	0	0	3845	1117	39	1	211	1	CRABP1	15	78633519	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1160221	78633519	23897873	3496	7964										
AGPHD1	123688	broad.mit.edu	37	chr15	78805633	78805633	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atatgtcctcaaaataagcaAcaccaaggctagcaaaaatc	5	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:78805633A>G	ENST00000569878.1	+	1	203	c.203A>G	c.(202-204)aAc>aGc	p.N68S	HYKK_ENST00000563233.1_Missense_Mutation_p.N68S|HYKK_ENST00000388988.4_Missense_Mutation_p.N68S|HYKK_ENST00000566332.1_Missense_Mutation_p.N68S|HYKK_ENST00000408962.2_Missense_Mutation_p.N68S|HYKK_ENST00000360519.3_Missense_Mutation_p.N68S			A2RU49	HYKK_HUMAN	hydroxylysine kinase	68						cytoplasm (GO:0005737)	hydroxylysine kinase activity (GO:0047992)										AAAATAAGCAACACCAAGGCT	0.438																																						ENST00000566332.1																			0											c.(202-204)aAc>aGc		hydroxylysine kinase							116	112	113					15																	78805633		1919	4139	6058	SO:0001583	missense	123688							g.chr15:78805633A>G	BC132753, BC144383, BM045979	CCDS42063.1, CCDS45318.1	15q25.1	2013-06-11	2013-06-11	2013-06-11	ENSG00000188266	ENSG00000188266	2.7.1.81		34403	protein-coding gene	gene with protein product	"5-hydroxylysine kinase"	614681	"aminoglycoside phosphotransferase domain containing 1"	AGPHD1		18780872, 22241472	Standard	NM_001013619		Approved	LOC123688	uc010unc.2	A2RU49		ENST00000569878.1:c.203A>G	15.37:g.78805633A>G	ENSP00000455459:p.Asn68Ser		Somatic				HYKK_ENST00000408962.2_Missense_Mutation_p.N68S|HYKK_ENST00000388988.4_Missense_Mutation_p.N68S|HYKK_ENST00000360519.3_Missense_Mutation_p.N68S|HYKK_ENST00000569878.1_Missense_Mutation_p.N68S|HYKK_ENST00000563233.1_Missense_Mutation_p.N68S	p.N68S			WXS	Illumina GAIIx	Phase_I					2	263	+								B7ZMA5|F8W6X5|Q6ZTN0	Missense_Mutation	SNP	ENST00000569878.1	37	c.203A>G	CCDS42063.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.531493	0.64972	.	.	ENSG00000188266	ENST00000408962;ENST00000388988;ENST00000360519	T;T;T	0.31510	1.49;1.49;1.49	5.83	4.71	0.59529	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	M	0.84511	2.7	0.54753	D	0.999988	D;D	0.89917	0.977;1.0	D;D	0.97110	0.954;1.0	T	0.63756	-0.6565	10	0.87932	D	0	1.7704	11.755	0.51870	0.9315:0.0:0.0685:0.0	.	68;68	A2RU49;A2RU49-3	AGPD1_HUMAN;.	S	68	ENSP00000386197:N68S;ENSP00000373640:N68S;ENSP00000353710:N68S	ENSP00000353710:N68S	N	+	2	0	AGPHD1	76592688	1.000000	0.71417	0.976000	0.42696	0.659000	0.38960	8.022000	0.88759	1.041000	0.40125	-0.250000	0.11733	AAC		0.438	HYKK-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435834.1	NM_001013619		34	73	0	0	0	1	0	34	73					G	78805633	A	G	78805633	3	3	48	1	0	0	0	0	1	0	0	0	393	43	2	4	205	4	AGPHD1	15	78805633	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	172114	78805633	23725759	3497	7965										
PSMA4	5685	broad.mit.edu	37	chr15	78837280	78837280	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcgctgtgtgatatcaaacaAgcttatacacaatttggagg	10	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:78837280A>C	ENST00000044462.7	+	6	507	c.357A>C	c.(355-357)caA>caC	p.Q119H	PSMA4_ENST00000413382.2_Missense_Mutation_p.Q48H|PSMA4_ENST00000559082.1_Missense_Mutation_p.Q119H|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000558281.1_Missense_Mutation_p.Q119H|PSMA4_ENST00000558094.1_Missense_Mutation_p.Q31H|PSMA4_ENST00000560217.1_Missense_Mutation_p.Q88H	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	119					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)	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)			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						ATATCAAACAAGCTTATACAC	0.313																																						ENST00000044462.7																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(355-357)caA>caC		proteasome (prosome, macropain) subunit, alpha type, 4							85	83	84					15																	78837280		2196	4293	6489	SO:0001583	missense	5685				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	g.chr15:78837280A>C	BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"Proteasome (prosome, macropain) subunits"	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.357A>C	15.37:g.78837280A>C	ENSP00000044462:p.Gln119His		Somatic				PSMA4_ENST00000560217.1_Missense_Mutation_p.Q88H|PSMA4_ENST00000559082.1_Missense_Mutation_p.Q119H|PSMA4_ENST00000558281.1_Missense_Mutation_p.Q119H|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000558094.1_Missense_Mutation_p.Q31H|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000413382.2_Missense_Mutation_p.Q48H	p.Q119H	NM_002789.4	NP_002780.1	WXS	Illumina GAIIx	Phase_I	P25789	PSA4_HUMAN			6	507	+			119					D3DW86|Q53XP2|Q567Q5|Q8TBD1	Missense_Mutation	SNP	ENST00000044462.7	37	c.357A>C	CCDS10303.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001004	0.54254	.	.	ENSG00000041357	ENST00000413382;ENST00000044462	T;T	0.26660	1.72;1.72	5.81	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.48732	0.1516	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42068	-0.9473	10	0.62326	D	0.03	-23.0772	8.4082	0.32627	0.6858:0.0:0.3142:0.0	.	119	P25789	PSA4_HUMAN	H	48;119	ENSP00000402118:Q48H;ENSP00000044462:Q119H	ENSP00000044462:Q119H	Q	+	3	2	PSMA4	76624335	0.995000	0.38212	1.000000	0.80357	0.640000	0.38277	1.301000	0.33447	0.355000	0.24131	0.533000	0.62120	CAA		0.313	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	NM_002789		11	18	0	0	0	1	0	11	18					C	78837280	A	C	78837280	3	2	48	1	0	0	0	0	1	0	0	0	12681	69	3	4	375	4	PSMA4	15	78837280	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	31647	78837280	23694112	3498	7966										
RASGRF1	5923	broad.mit.edu	37	chr15	79294116	79294116	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atatctgactcctctctcatGgagacttctgagcctgggag	10	11	4	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:79294116G>T	ENST00000419573.3	-	17	2785	c.2511C>A	c.(2509-2511)tcC>tcA	p.S837S	RASGRF1_ENST00000394745.3_Silent_p.S53S|RASGRF1_ENST00000558480.2_Silent_p.S821S|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	837					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)			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						CCTCTCTCATGGAGACTTCTG	0.284																																						ENST00000419573.3																			0				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.(2509-2511)tcC>tcA		Ras protein-specific guanine nucleotide-releasing factor 1							129	120	123					15																	79294116		2196	4293	6489	SO:0001819	synonymous_variant	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.chr15:79294116G>T	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.2511C>A	15.37:g.79294116G>T			Somatic				RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.S821S|RASGRF1_ENST00000394745.3_Silent_p.S53S	p.S837S	NM_002891.4	NP_002882.3	WXS	Illumina GAIIx	Phase_I	Q13972	RGRF1_HUMAN			17	2785	-			839					F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.2511C>A	CCDS10309.1																																																																																				0.284	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		20	39	1	0	9.7654e-05	1	0.000105618	20	39					T	79294116	G	T	79294116	2	4	48	1	0	0	0	0	0	0	0	1	13087	1335	47	5		5	RASGRF1	15	79294116	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	456836	79294116	23237276	3499	7967										
RASGRF1	5923	broad.mit.edu	37	chr15	79320125	79320125	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgtccaggaggatctcacAgccttcgatgatcatgcgct	12	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:79320125A>C	ENST00000419573.3	-	9	1613	c.1339T>G	c.(1339-1341)Tgt>Ggt	p.C447G	RASGRF1_ENST00000558480.2_Missense_Mutation_p.C447G|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	447					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)			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						AGGATCTCACAGCCTTCGATG	0.577																																						ENST00000419573.3																			0				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.(1339-1341)Tgt>Ggt		Ras protein-specific guanine nucleotide-releasing factor 1							212	174	187					15																	79320125		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.chr15:79320125A>C	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.1339T>G	15.37:g.79320125A>C	ENSP00000405963:p.Cys447Gly		Somatic				RASGRF1_ENST00000558480.2_Missense_Mutation_p.C447G|RASGRF1_ENST00000560334.1_5'UTR	p.C447G	NM_002891.4	NP_002882.3	WXS	Illumina GAIIx	Phase_I	Q13972	RGRF1_HUMAN			9	1613	-			447					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.1339T>G	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.995797	0.74703	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.30448	1.53	4.09	4.09	0.47781	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.80764	0.99;0.986;0.986;0.994	T	0.54002	-0.8358	10	0.33940	T	0.23	.	11.1418	0.48406	1.0:0.0:0.0:0.0	.	447;447;447;447	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	G	447	ENSP00000405963:C447G	ENSP00000378224:C447G	C	-	1	0	RASGRF1	77107180	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.844000	0.92147	1.722000	0.51474	0.392000	0.25879	TGT		0.577	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		5	109	0	0	0	1	0	5	109					C	79320125	A	C	79320125	3	2	48	1	0	0	0	0	1	0	0	0	13087	188	7	4	2562	4	RASGRF1	15	79320125	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	26009	79320125	23211267	3500	7968										
KIAA1024	23251	broad.mit.edu	37	chr15	79750509	79750509	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acagtggctcccacggacccAaactagagaacaaccctgac	8	15	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:79750509A>G	ENST00000305428.3	+	2	2095	c.2020A>G	c.(2020-2022)Aaa>Gaa	p.K674E		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	674						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						CCACGGACCCAAACTAGAGAA	0.557																																						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.(2020-2022)Aaa>Gaa		KIAA1024							166	166	166					15																	79750509		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79750509A>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.2020A>G	15.37:g.79750509A>G	ENSP00000307461:p.Lys674Glu		Somatic					p.K674E	NM_015206.2	NP_056021.1	WXS	Illumina GAIIx	Phase_I	Q9UPX6	K1024_HUMAN			2	2095	+			674					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.2020A>G	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	A	3.839	-0.034272	0.07543	.	.	ENSG00000169330	ENST00000305428	T	0.33216	1.42	5.37	1.49	0.22878	.	0.423635	0.26173	N	0.025916	T	0.24890	0.0604	L	0.60455	1.87	0.09310	N	0.999998	B	0.20780	0.048	B	0.16289	0.015	T	0.16748	-1.0392	9	.	.	.	.	7.2738	0.26273	0.6524:0.2751:0.0725:0.0	.	674	Q9UPX6	K1024_HUMAN	E	674	ENSP00000307461:K674E	.	K	+	1	0	KIAA1024	77537564	0.986000	0.35501	0.002000	0.10522	0.016000	0.09150	3.740000	0.55082	0.337000	0.23665	0.482000	0.46254	AAA		0.557	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		7	247	0	0	0	1	0	7	247					G	79750509	A	G	79750509	3	3	48	1	0	0	0	0	1	0	0	0	8214	131	5	4	2022	4	KIAA1024	15	79750509	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	430384	79750509	22780883	3501	7969										
MTHFS	10588	broad.mit.edu	37	chr15	80137564	80137564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atccagatttaagctgttgaCgagtcttcgtaaaggacttc	9	8	1	2	rs150067777	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:80137564C>T	ENST00000258874.3	-	3	660	c.600G>A	c.(598-600)tcG>tcA	p.S200S	ST20-MTHFS_ENST00000479961.1_Silent_p.S176S|ST20-MTHFS_ENST00000494999.1_5'Flank|RP11-38G5.4_ENST00000567415.1_lincRNA	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	200					formate metabolic process (GO:0015942)|tetrahydrofolate metabolic process (GO:0046653)	cytoplasm (GO:0005737)	5-formyltetrahydrofolate cyclo-ligase activity (GO:0030272)|ATP binding (GO:0005524)|folic acid binding (GO:0005542)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		AAGCTGTTGACGAGTCTTCGT	0.393													C|||	2	0.000399361	0.0015	0	5008	,	,		19647	0		0	False		,,,				2504	0					ENST00000258874.3																			0				endometrium(3)|large_intestine(1)|liver(1)	5						c.(598-600)tcG>tcA		5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)		C	,,	4,4402	8.1+/-20.4	0,4,2199	130	112	118		429,528,600	-3.9	0	15	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	MTHFS,ST20-MTHFS	NM_001199758.1,NM_001199760.1,NM_006441.3	,,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,,	143/147,176/180,200/204	80137564	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	10588				folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding	g.chr15:80137564C>T	L38928	CCDS10311.1	15q24.3	2014-05-15			ENSG00000136371	ENSG00000136371	6.3.3.2		7437	protein-coding gene	gene with protein product		604197				8522195	Standard	NM_006441		Approved	HsT19268	uc002bex.4	P49914	OTTHUMG00000144174	ENST00000258874.3:c.600G>A	15.37:g.80137564C>T			Somatic				ST20-MTHFS_ENST00000479961.1_Silent_p.S176S	p.S200S	NM_006441.3	NP_006432.1	WXS	Illumina GAIIx	Phase_I	P49914	MTHFS_HUMAN		all cancers(203;0.00467)	3	660	-			200					H3BQ75	Silent	SNP	ENST00000258874.3	37	c.600G>A	CCDS10311.1																																																																																				0.393	MTHFS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291374.2	NM_006441		31	52	0	0	0	1	0	31	52					T	80137564	C	T	80137564	2	4	48	1	0	0	0	0	0	0	0	1	9941	523	19	1		1	MTHFS	15	80137564	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	387055	80137564	22393828	3502	7970										
MTHFS	10588	broad.mit.edu	37	chr15	80137599	80137599	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacttcatctaccttcatgtCgttttcattcactgggacct	6	12	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:80137599C>T	ENST00000258874.3	-	3	625	c.565G>A	c.(565-567)Gac>Aac	p.D189N	ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.D165N|ST20-MTHFS_ENST00000494999.1_5'Flank|RP11-38G5.4_ENST00000567415.1_lincRNA	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	189					formate metabolic process (GO:0015942)|tetrahydrofolate metabolic process (GO:0046653)	cytoplasm (GO:0005737)	5-formyltetrahydrofolate cyclo-ligase activity (GO:0030272)|ATP binding (GO:0005524)|folic acid binding (GO:0005542)|metal ion binding (GO:0046872)	p.D189N(1)		endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		ACCTTCATGTCGTTTTCATTC	0.433																																						ENST00000258874.3																			1	Substitution - Missense(1)	p.D189N(1)	large_intestine(1)	endometrium(3)|large_intestine(1)|liver(1)	5						c.(565-567)Gac>Aac		5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)							161	143	149					15																	80137599		2203	4300	6503	SO:0001583	missense	10588				folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding	g.chr15:80137599C>T	L38928	CCDS10311.1	15q24.3	2014-05-15			ENSG00000136371	ENSG00000136371	6.3.3.2		7437	protein-coding gene	gene with protein product		604197				8522195	Standard	NM_006441		Approved	HsT19268	uc002bex.4	P49914	OTTHUMG00000144174	ENST00000258874.3:c.565G>A	15.37:g.80137599C>T	ENSP00000258874:p.Asp189Asn		Somatic				ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.D165N	p.D189N	NM_006441.3	NP_006432.1	WXS	Illumina GAIIx	Phase_I	P49914	MTHFS_HUMAN		all cancers(203;0.00467)	3	625	-			189					H3BQ75	Missense_Mutation	SNP	ENST00000258874.3	37	c.565G>A	CCDS10311.1	.	.	.	.	.	.	.	.	.	.	C	36	5.688327	0.96784	.	.	ENSG00000136371	ENST00000258874	D	0.95980	-3.87	6.03	6.03	0.97812	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	H	0.97491	4.015	0.80722	D	1	D	0.59767	0.986	P	0.51487	0.671	D	0.98858	1.0761	10	0.87932	D	0	-38.9945	20.5666	0.99351	0.0:1.0:0.0:0.0	.	189	P49914	MTHFS_HUMAN	N	189	ENSP00000258874:D189N	ENSP00000258874:D189N	D	-	1	0	MTHFS	77924654	1.000000	0.71417	0.453000	0.27007	0.966000	0.64601	7.111000	0.77077	2.854000	0.98071	0.655000	0.94253	GAC		0.433	MTHFS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291374.2	NM_006441		13	78	0	0	0	1	0	13	78					T	80137599	C	T	80137599	3	4	48	1	0	0	0	0	1	0	0	0	9941	884	31	1	50	1	MTHFS	15	80137599	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	35	80137599	22393793	3503	7971										
IL16	3603	broad.mit.edu	37	chr15	81565534	81565534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcagcagcagccgatggaaGgctacaggaaggtaggcttc	15	9	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:81565534G>T	ENST00000302987.4	+	5	779	c.779G>T	c.(778-780)aGg>aTg	p.R260M	IL16_ENST00000394660.2_Missense_Mutation_p.R260M			Q14005	IL16_HUMAN	interleukin 16	260	Interaction with GRIN2A.|PDZ 1. {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						GCCGATGGAAGGCTACAGGAA	0.517																																						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.(778-780)aGg>aTg		interleukin 16							41	45	43					15																	81565534		1947	4150	6097	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.chr15:81565534G>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.779G>T	15.37:g.81565534G>T	ENSP00000302935:p.Arg260Met		Somatic				IL16_ENST00000302987.4_Missense_Mutation_p.R260M	p.R260M	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	WXS	Illumina GAIIx	Phase_I	Q14005	IL16_HUMAN			6	1139	+			260			Interaction with GRIN2A.|PDZ 1.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.779G>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218340	0.79464	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.44881	0.91;0.91	4.92	4.92	0.64577	PDZ/DHR/GLGF (4);	0.000000	0.43919	D	0.000514	T	0.69486	0.3116	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.74822	-0.3534	10	0.66056	D	0.02	.	18.3191	0.90231	0.0:0.0:1.0:0.0	.	260;260	Q14005;Q14005-2	IL16_HUMAN;.	M	260;260;92;260	ENSP00000378155:R260M;ENSP00000302935:R260M	ENSP00000302935:R260M	R	+	2	0	IL16	79352589	1.000000	0.71417	0.291000	0.24904	0.085000	0.17905	8.422000	0.90262	2.580000	0.87095	0.655000	0.94253	AGG		0.517	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		16	35	1	0	1.15088e-07	1	1.32965e-07	16	35					T	81565534	G	T	81565534	3	4	48	1	0	0	0	0	1	0	0	0	7642	1000	35	5	797	5	IL16	15	81565534	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1427935	81565534	20965858	3504	7972										
IL16	3603	broad.mit.edu	37	chr15	81598795	81598795	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtctgcacggtgacactggaGaagatgtcggcagggctggg	18	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:81598795G>T	ENST00000302987.4	+	17	3714	c.3714G>T	c.(3712-3714)gaG>gaT	p.E1238D	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.E537D|IL16_ENST00000394660.2_Missense_Mutation_p.E1237D			Q14005	IL16_HUMAN	interleukin 16	1238	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						TGACACTGGAGAAGATGTCGG	0.567																																						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.(3709-3711)gaG>gaT		interleukin 16							133	134	134					15																	81598795		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.chr15:81598795G>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3714G>T	15.37:g.81598795G>T	ENSP00000302935:p.Glu1238Asp		Somatic				IL16_ENST00000302987.4_Missense_Mutation_p.E1238D|IL16_ENST00000394652.2_Missense_Mutation_p.E537D|RP11-761I4.4_ENST00000607019.1_RNA	p.E1237D	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	WXS	Illumina GAIIx	Phase_I	Q14005	IL16_HUMAN			18	4071	+			1238			PDZ 4.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.3711G>T	CCDS42069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.02|12.02	1.811155|1.811155	0.32053|0.32053	.|.	.|.	ENSG00000172349|ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000394653;ENST00000394652|ENST00000394656	T;T;T|.	0.29917|.	1.55;1.55;1.55|.	4.2|4.2	-0.0727|-0.0727	0.13738|0.13738	PDZ/DHR/GLGF (3);|.	0.000000|0.000000	0.44483|0.44483	D|D	0.000448|0.000448	T|.	0.51363|.	0.1670|.	M|M	0.65677|0.65677	2.01|2.01	0.34657|0.34657	D|D	0.722281|0.722281	B;B;D;B;B|.	0.69078|.	0.248;0.292;0.997;0.059;0.019|.	P;B;D;B;B|.	0.72625|.	0.462;0.267;0.978;0.413;0.113|.	T|.	0.54536|.	-0.8279|.	10|.	0.33940|0.29301	T|T	0.23|0.29	.|.	5.8724|5.8724	0.18810|0.18810	0.2645:0.4026:0.3328:0.0|0.2645:0.4026:0.3328:0.0	.|.	1069;730;627;1238;1237|.	F8W7Z5;Q6ZTT5;B3KY62;Q14005;Q14005-2|.	.;.;.;IL16_HUMAN;.|.	D|X	1237;1069;1238;627;537|536	ENSP00000378155:E1237D;ENSP00000302935:E1238D;ENSP00000378147:E537D|.	ENSP00000302935:E1238D|ENSP00000378151:E536X	E|E	+|+	3|1	2|0	IL16|IL16	79385850|79385850	0.976000|0.976000	0.34144|0.34144	0.990000|0.990000	0.47175|0.47175	0.858000|0.858000	0.48976|0.48976	0.304000|0.304000	0.19228|0.19228	0.109000|0.109000	0.17891|0.17891	0.561000|0.561000	0.74099|0.74099	GAG|GAA		0.567	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		57	122	1	0	1.17673e-23	1	1.64719e-23	57	122					T	81598795	G	T	81598795	3	4	48	1	0	0	0	0	1	0	0	0	7642	933	33	2	3780	2	IL16	15	81598795	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	33261	81598795	20932597	3505	7973										
FAM154B	283726	broad.mit.edu	37	chr15	82575144	82575144	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcccaacccatctggaaaatTtgatggtttgagcactttca	7	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:82575144T>G	ENST00000339465.5	+	3	1007	c.938T>G	c.(937-939)tTt>tGt	p.F313C	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.F298C	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	313										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TCTGGAAAATTTGATGGTTTG	0.393																																						ENST00000339465.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						c.(937-939)tTt>tGt		family with sequence similarity 154, member B							56	58	57					15																	82575144		2203	4299	6502	SO:0001583	missense	283726							g.chr15:82575144T>G	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.938T>G	15.37:g.82575144T>G	ENSP00000340445:p.Phe313Cys		Somatic				FAM154B_ENST00000427381.2_Missense_Mutation_p.F298C|FAM154B_ENST00000565501.1_3'UTR	p.F313C	NM_001008226.1	NP_001008227.1	WXS	Illumina GAIIx	Phase_I	Q658L1	F154B_HUMAN			3	1007	+			313					B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	c.938T>G	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.943078	0.53079	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.21191	2.02;2.02	4.46	3.3	0.37823	.	0.155205	0.43579	D	0.000557	T	0.47135	0.1429	M	0.84326	2.69	0.40308	D	0.978687	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.51332	-0.8719	10	0.72032	D	0.01	-7.3497	11.2612	0.49085	0.0:0.0:0.1537:0.8463	.	298;313	B4E2M2;Q658L1	.;F154B_HUMAN	C	313;298	ENSP00000340445:F313C;ENSP00000403743:F298C	ENSP00000340445:F313C	F	+	2	0	FAM154B	80362199	1.000000	0.71417	0.900000	0.35374	0.838000	0.47535	6.515000	0.73751	0.643000	0.30638	-0.836000	0.03065	TTT		0.393	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		25	39	0	0	0	1	0	25	39					G	82575144	T	G	82575144	3	3	48	1	0	0	0	0	1	0	0	0	5469	1841	64	4	948	4	FAM154B	15	82575144	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	976349	82575144	19956248	3506	7974										
BNC1	646	broad.mit.edu	37	chr15	83926268	83926268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgtgtctgtttcgactgcGaacagacgaaaacatggtgt	12	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:83926268G>A	ENST00000345382.2	-	5	2996	c.2911C>T	c.(2911-2913)Cgc>Tgc	p.R971C	BNC1_ENST00000569704.1_Missense_Mutation_p.R964C|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	971					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						TTTCGACTGCGAACAGACGAA	0.507																																						ENST00000345382.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(2911-2913)Cgc>Tgc		basonuclin 1							158	152	154					15																	83926268		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.chr15:83926268G>A	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2911C>T	15.37:g.83926268G>A	ENSP00000307041:p.Arg971Cys		Somatic				BNC1_ENST00000569704.1_Missense_Mutation_p.R964C|RP11-382A20.4_ENST00000565495.1_RNA	p.R971C	NM_001717.3	NP_001708.3	WXS	Illumina GAIIx	Phase_I	Q01954	BNC1_HUMAN			5	2996	-			971					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.2911C>T	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775166	0.90108	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.55234	0.53	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.74928	0.3781	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.988	T	0.75855	-0.3170	10	0.87932	D	0	-34.6311	20.3398	0.98759	0.0:0.0:1.0:0.0	.	964;971	F5GY04;Q01954	.;BNC1_HUMAN	C	971;964	ENSP00000307041:R971C	ENSP00000307041:R971C	R	-	1	0	BNC1	81717272	1.000000	0.71417	0.972000	0.41901	0.994000	0.84299	6.482000	0.73613	2.811000	0.96726	0.557000	0.71058	CGC		0.507	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		47	88	0	0	0	1	0	47	88					A	83926268	G	A	83926268	3	1	48	1	0	0	0	0	1	0	0	0	1474	1058	37	1	77	1	BNC1	15	83926268	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1351124	83926268	18605124	3507	7975										
ADAMTSL3	57188	broad.mit.edu	37	chr15	84558912	84558912	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatccgcttgaagagggtagTtcctgaccattattgtcact	9	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:84558912T>G	ENST00000286744.5	+	11	1348	c.1124T>G	c.(1123-1125)gTt>gGt	p.V375G	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V375G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	375						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)			AAGAGGGTAGTTCCTGACCAT	0.403																																						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.(1123-1125)gTt>gGt		ADAMTS-like 3							191	166	174					15																	84558912		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84558912T>G	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.1124T>G	15.37:g.84558912T>G	ENSP00000286744:p.Val375Gly		Somatic				ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V375G	p.V375G	NM_207517.2	NP_997400.2	WXS	Illumina GAIIx	Phase_I	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		11	1348	+			375					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.1124T>G	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.986692	0.74589	.	.	ENSG00000156218	ENST00000286744	T	0.63096	-0.02	4.83	4.83	0.62350	.	0.059294	0.64402	D	0.000003	T	0.79064	0.4383	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.997	T	0.82440	-0.0456	10	0.87932	D	0	.	14.716	0.69269	0.0:0.0:0.0:1.0	.	375;375	P82987-2;P82987	.;ATL3_HUMAN	G	375	ENSP00000286744:V375G	ENSP00000286744:V375G	V	+	2	0	ADAMTSL3	82349916	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	5.809000	0.69172	1.927000	0.55829	0.533000	0.62120	GTT		0.403	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		15	96	0	0	0	1	0	15	96					G	84558912	T	G	84558912	3	3	48	1	0	0	0	0	1	0	0	0	276	1725	60	4	1162	4	ADAMTSL3	15	84558912	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	632644	84558912	17972480	3508	7976										
PDE8A	5151	broad.mit.edu	37	chr15	85664054	85664054	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttagatccaattgatgaggtCgctgcactcatcgcagccac	9	12	1	3	rs149557632		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:85664054C>T	ENST00000310298.4	+	19	2013	c.1761C>T	c.(1759-1761)gtC>gtT	p.V587V	PDE8A_ENST00000339708.5_Silent_p.V541V|PDE8A_ENST00000557957.1_Silent_p.V515V|PDE8A_ENST00000394553.1_Silent_p.V587V			O60658	PDE8A_HUMAN	phosphodiesterase 8A	587	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.V587V(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)	TTGATGAGGTCGCTGCACTCA	0.448																																						ENST00000310298.4																			1	Substitution - coding silent(1)	p.V587V(1)	skin(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.(1759-1761)gtC>gtT		phosphodiesterase 8A							131	114	120					15																	85664054		2203	4299	6502	SO:0001819	synonymous_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.chr15:85664054C>T	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.1761C>T	15.37:g.85664054C>T			Somatic				PDE8A_ENST00000339708.5_Silent_p.V541V|PDE8A_ENST00000394553.1_Silent_p.V587V|PDE8A_ENST00000557957.1_Silent_p.V515V	p.V587V			WXS	Illumina GAIIx	Phase_I	O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		19	2013	+	Colorectal(223;0.227)		587			Catalytic (By similarity).		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Silent	SNP	ENST00000310298.4	37	c.1761C>T	CCDS10336.1																																																																																				0.448	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		24	48	0	0	0	1	0	24	48					T	85664054	C	T	85664054	2	4	48	1	0	0	0	0	0	0	0	1	11662	871	31	1		1	PDE8A	15	85664054	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1105142	85664054	16867338	3509	7977										
ISG20	3669	broad.mit.edu	37	chr15	89198710	89198710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatggagctctatcaaatctCccagagaatccgagcccgcc	9	14	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:89198710C>T	ENST00000306072.5	+	4	852	c.494C>T	c.(493-495)tCc>tTc	p.S165F	ISG20_ENST00000560741.1_Missense_Mutation_p.S165F|ISG20_ENST00000560746.1_3'UTR	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	165					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA catabolic process, exonucleolytic (GO:0000738)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	3'-5'-exoribonuclease activity (GO:0000175)|exonuclease activity (GO:0004527)|exoribonuclease II activity (GO:0008859)|metal ion binding (GO:0046872)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|U1 snRNA binding (GO:0030619)|U2 snRNA binding (GO:0030620)|U3 snoRNA binding (GO:0034511)			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			TATCAAATCTCCCAGAGAATC	0.587																																						ENST00000306072.5																			0				large_intestine(1)|lung(3)|prostate(1)	5						c.(493-495)tCc>tTc		interferon stimulated exonuclease gene 20kDa							54	57	56					15																	89198710		2200	4299	6499	SO:0001583	missense	3669				cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity	g.chr15:89198710C>T	X89773	CCDS10345.1	15q26	2006-02-22	2002-08-29		ENSG00000172183	ENSG00000172183			6130	protein-coding gene	gene with protein product		604533	"interferon stimulated gene (20kD)"			9235947, 9605874	Standard	NM_002201		Approved	HEM45, CD25	uc002bmv.1	Q96AZ6	OTTHUMG00000148679	ENST00000306072.5:c.494C>T	15.37:g.89198710C>T	ENSP00000306565:p.Ser165Phe		Somatic				ISG20_ENST00000560741.1_Missense_Mutation_p.S165F|ISG20_ENST00000560746.1_3'UTR	p.S165F	NM_002201.4	NP_002192.2	WXS	Illumina GAIIx	Phase_I	Q96AZ6	ISG20_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.12)		4	852	+	Lung NSC(78;0.0554)|all_lung(78;0.103)		165					O00441|O00586	Missense_Mutation	SNP	ENST00000306072.5	37	c.494C>T	CCDS10345.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383810	0.61845	.	.	ENSG00000172183	ENST00000306072;ENST00000546338	T	0.33654	1.4	4.1	4.1	0.47936	Exonuclease (1);Ribonuclease H-like (1);	0.713456	0.13070	N	0.416212	T	0.40956	0.1138	N	0.25286	0.73	0.46849	D	0.999229	D	0.76494	0.999	D	0.67548	0.952	T	0.03384	-1.1042	10	0.14252	T	0.57	.	12.1937	0.54284	0.0:1.0:0.0:0.0	.	165	Q96AZ6	ISG20_HUMAN	F	165;173	ENSP00000306565:S165F	ENSP00000306565:S165F	S	+	2	0	ISG20	86999714	0.983000	0.35010	0.087000	0.20705	0.382000	0.30200	3.226000	0.51254	2.004000	0.58718	0.467000	0.42956	TCC		0.587	ISG20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309069.2	NM_002201		20	33	0	0	0	1	0	20	33					T	89198710	C	T	89198710	3	4	48	1	0	0	0	0	1	0	0	0	7863	855	30	3	504	3	ISG20	15	89198710	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3534656	89198710	13332682	3510	7978										
ACAN	176	broad.mit.edu	37	chr15	89401045	89401045	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggacagccatcagggtttccTgacactagtggggaaacatc	12	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:89401045T>C	ENST00000561243.1	+	11	5229	c.5229T>C	c.(5227-5229)ccT>ccC	p.P1743P	ACAN_ENST00000439576.2_Silent_p.P1743P|ACAN_ENST00000352105.7_Silent_p.P1743P|ACAN_ENST00000559004.1_Silent_p.P1743P			P16112	PGCA_HUMAN	aggrecan	1767	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)			CAGGGTTTCCTGACACTAGTG	0.512																																						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.(5227-5229)ccT>ccC		aggrecan							100	100	100					15																	89401045		1914	4118	6032	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89401045T>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.5229T>C	15.37:g.89401045T>C			Somatic				ACAN_ENST00000352105.7_Silent_p.P1743P|ACAN_ENST00000559004.1_Silent_p.P1743P|ACAN_ENST00000561243.1_Silent_p.P1743P	p.P1743P	NM_013227.3	NP_037359.3	WXS	Illumina GAIIx	Phase_I	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5603	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1743					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.5229T>C	CCDS53970.1																																																																																				0.512	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		52	99	0	0	0	1	0	52	99					C	89401045	T	C	89401045	2	2	48	1	0	0	0	0	0	0	0	1	117	1567	55	4		4	ACAN	15	89401045	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	202335	89401045	13130347	3511	7979										
FANCI	55215	broad.mit.edu	37	chr15	89817466	89817466	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaactcctccaaggctcaaAatttcttcagaatctagttc	4	12	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:89817466A>C	ENST00000310775.7	+	12	1129	c.1043A>C	c.(1042-1044)aAa>aCa	p.K348T	FANCI_ENST00000300027.8_Missense_Mutation_p.K348T	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	348					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)			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)					CAAGGCTCAAAATTTCTTCAG	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			0				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.(1042-1044)aAa>aCa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							52	50	51					15																	89817466		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.chr15:89817466A>C	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.1043A>C	15.37:g.89817466A>C	ENSP00000310842:p.Lys348Thr		Somatic				FANCI_ENST00000300027.8_Missense_Mutation_p.K348T	p.K348T	NM_001113378.1	NP_001106849.1	WXS	Illumina GAIIx	Phase_I	Q9NVI1	FANCI_HUMAN			12	1129	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		348					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.1043A>C	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.942662	0.53079	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.71222	-0.54;-0.55;0.18	5.26	4.14	0.48551	.	0.154005	0.56097	D	0.000026	T	0.77226	0.4099	M	0.72118	2.19	0.80722	D	1	D;D;D	0.58620	0.983;0.983;0.983	P;P;P	0.59424	0.798;0.798;0.857	T	0.73675	-0.3908	10	0.23302	T	0.38	-16.7792	9.5281	0.39175	0.9202:0.0:0.0798:0.0	.	348;348;348	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	T	348	ENSP00000300027:K348T;ENSP00000310842:K348T;ENSP00000413249:K348T	ENSP00000300027:K348T	K	+	2	0	FANCI	87618470	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.429000	0.52800	0.970000	0.38263	0.460000	0.39030	AAA		0.328	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		7	9	0	0	0	1	0	7	9					C	89817466	A	C	89817466	3	2	48	1	0	0	0	0	1	0	0	0	5677	14	1	4	1085	4	FANCI	15	89817466	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	416421	89817466	12713926	3512	7980										
ANPEP	290	broad.mit.edu	37	chr15	90349269	90349269	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcatctgccaactccccctcGaactcgctgtccatctcata	4	18	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:90349269G>A	ENST00000300060.6	-	2	859	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	182	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	ACTCCCCCTCGAACTCGCTGT	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.(544-546)ttC>ttT		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						91	86	87					15																	90349269		2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90349269G>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.546C>T	15.37:g.90349269G>A			Somatic					p.F182F	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	859	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		182			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.546C>T	CCDS10356.1																																																																																				0.607	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			10	107	0	0	0	1	0	10	107					A	90349269	G	A	90349269	2	1	48	1	0	0	0	0	0	0	0	1	710	1049	37	1		1	ANPEP	15	90349269	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	531803	90349269	12182123	3513	7981										
IDH2	3418	broad.mit.edu	37	chr15	90630471	90630471	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgctcataccagatcttattCttgtcgaagtcggtcttata	7	9	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:90630471C>A	ENST00000330062.3	-	7	953	c.840G>T	c.(838-840)aaG>aaT	p.K280N	IDH2_ENST00000539790.1_Missense_Mutation_p.K150N|IDH2_ENST00000540499.2_Missense_Mutation_p.K228N|IDH2_ENST00000559482.1_Missense_Mutation_p.K171N	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	280					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			AGATCTTATTCTTGTCGAAGT	0.542			M		GBM						OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"socitrate dehydrogenase 2 (NADP+), mitochondrial "			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(838-840)aaG>aaT		isocitrate dehydrogenase 2 (NADP+), mitochondrial							112	109	110					15																	90630471		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90630471C>A		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.840G>T	15.37:g.90630471C>A	ENSP00000331897:p.Lys280Asn		Somatic	OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1276	IDH2_ENST00000559482.1_Missense_Mutation_p.K171N|IDH2_ENST00000539790.1_Missense_Mutation_p.K150N|IDH2_ENST00000540499.2_Missense_Mutation_p.K228N	p.K280N	NM_002168.2	NP_002159.2	WXS	Illumina GAIIx	Phase_I	P48735	IDHP_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;0.106)		7	953	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		280					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.840G>T	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291683	0.40594	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.68479	-0.33;-0.33;-0.33	5.56	3.7	0.42460	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.55257	0.1909	L	0.45352	1.415	0.50039	D	0.99984	B;B	0.11235	0.004;0.002	B;B	0.12837	0.008;0.006	T	0.51052	-0.8754	10	0.51188	T	0.08	.	7.5813	0.27965	0.0:0.7419:0.0:0.2581	.	280;280	Q53GL5;P48735	.;IDHP_HUMAN	N	280;150;228	ENSP00000331897:K280N;ENSP00000438457:K150N;ENSP00000446147:K228N	ENSP00000331897:K280N	K	-	3	2	IDH2	88431475	0.981000	0.34729	0.945000	0.38365	0.940000	0.58332	0.560000	0.23500	0.729000	0.32403	0.313000	0.20887	AAG		0.542	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			32	51	1	0	2.08457e-15	1	2.74702e-15	32	51					A	90630471	C	A	90630471	3	1	48	1	0	0	0	0	1	0	0	0	7504	912	32	2	538	2	IDH2	15	90630471	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	281202	90630471	11900921	3514	7982										
SV2B	9899	broad.mit.edu	37	chr15	91827259	91827259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctctccccagacctctacGagcacaagttcatcaactgt	5	15	4	1	rs375437326		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:91827259G>A	ENST00000394232.1	+	11	1986	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	SV2B_ENST00000545111.2_Missense_Mutation_p.E355K|SV2B_ENST00000330276.4_Missense_Mutation_p.E506K	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	506					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)			AGACCTCTACGAGCACAAGTT	0.512																																						ENST00000394232.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1516-1518)Gag>Aag		synaptic vesicle glycoprotein 2B		G	LYS/GLU,LYS/GLU	0,4396		0,0,2198	191	185	187		1063,1516	-0.7	0.2	15		187	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	SV2B	NM_001167580.1,NM_014848.4	56,56	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	355/533,506/684	91827259	1,12991	2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91827259G>A	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1516G>A	15.37:g.91827259G>A	ENSP00000377779:p.Glu506Lys		Somatic				SV2B_ENST00000330276.4_Missense_Mutation_p.E506K|SV2B_ENST00000545111.2_Missense_Mutation_p.E355K	p.E506K	NM_014848.4	NP_055663.1	WXS	Illumina GAIIx	Phase_I	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		11	1986	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		506					B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.1516G>A	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246230	0.22796	0.0	1.16E-4	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.39997	1.05;1.05;1.05	5.61	-0.713	0.11223	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.547756	0.20000	N	0.101345	T	0.18130	0.0435	N	0.12887	0.27	0.19575	N	0.999964	B	0.12630	0.006	B	0.15870	0.014	T	0.29119	-1.0022	10	0.07990	T	0.79	-13.842	8.5284	0.33319	0.1884:0.4942:0.3174:0.0	.	506	Q7L1I2	SV2B_HUMAN	K	355;506;506	ENSP00000443243:E355K;ENSP00000377779:E506K;ENSP00000332818:E506K	ENSP00000332818:E506K	E	+	1	0	SV2B	89628263	0.000000	0.05858	0.243000	0.24186	0.936000	0.57629	-0.220000	0.09215	0.194000	0.20326	0.586000	0.80456	GAG		0.512	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		73	147	0	0	0	1	0	73	147					A	91827259	G	A	91827259	3	1	48	1	0	0	0	0	1	0	0	0	15433	1059	37	1	1554	1	SV2B	15	91827259	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1196788	91827259	10704133	3515	7983										
ST8SIA2	8128	broad.mit.edu	37	chr15	92981795	92981795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caactcgggggtcttgctgaAcagcggctgtgggcaggaga	17	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:92981795A>G	ENST00000268164.3	+	4	740	c.503A>G	c.(502-504)aAc>aGc	p.N168S	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.N147S	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	168					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)			GTCTTGCTGAACAGCGGCTGT	0.602																																						ENST00000268164.3																			0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(502-504)aAc>aGc		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2							56	49	51					15																	92981795		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.chr15:92981795A>G	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.503A>G	15.37:g.92981795A>G	ENSP00000268164:p.Asn168Ser		Somatic				ST8SIA2_ENST00000539113.1_Missense_Mutation_p.N147S	p.N168S	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	740	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		168					Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	c.503A>G	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.775694	0.70107	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	T;T;T	0.33216	1.42;1.42;1.42	5.03	5.03	0.67393	.	0.181174	0.64402	D	0.000019	T	0.44623	0.1302	M	0.80332	2.49	0.50039	D	0.99984	B;B	0.34241	0.444;0.277	P;B	0.44696	0.458;0.392	T	0.46176	-0.9210	10	0.51188	T	0.08	-37.8272	9.6554	0.39923	0.9109:0.0:0.0891:0.0	.	147;168	C6G488;Q92186	.;SIA8B_HUMAN	S	168;147;125	ENSP00000268164:N168S;ENSP00000437382:N147S;ENSP00000450851:N125S	ENSP00000268164:N168S	N	+	2	0	ST8SIA2	90782799	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.709000	0.68384	1.890000	0.54733	0.460000	0.39030	AAC		0.602	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		5	77	0	0	0	1	0	5	77					G	92981795	A	G	92981795	3	3	48	1	0	0	0	0	1	0	0	0	15247	43	2	4	517	4	ST8SIA2	15	92981795	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1154536	92981795	9549597	3516	7984										
IGF1R	3480	broad.mit.edu	37	chr15	99500656	99500656	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgggccttgccgctgccccaGtcttcgacctgctgatcctt	10	17	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:99500656G>A	ENST00000268035.6	+	21	4700	c.4089G>A	c.(4087-4089)caG>caA	p.Q1363Q	IGF1R_ENST00000558762.1_Silent_p.Q1362Q|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1363					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)"	CGCTGCCCCAGTCTTCGACCT	0.622																																						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.(4087-4089)caG>caA		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						32	35	34					15																	99500656		2181	4271	6452	SO:0001819	synonymous_variant	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.chr15:99500656G>A	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.4089G>A	15.37:g.99500656G>A			Somatic				IGF1R_ENST00000558762.1_Silent_p.Q1362Q|RP11-654A16.3_ENST00000559468.1_RNA	p.Q1363Q	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)		21	4700	+	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)		1363					B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	c.4089G>A	CCDS10378.1																																																																																				0.622	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		23	41	0	0	0	1	0	23	41					A	99500656	G	A	99500656	2	1	48	1	0	0	0	0	0	0	0	1	7580	1020	36	3		3	IGF1R	15	99500656	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	6518861	99500656	3030736	3517	7985										
SYNM	23336	broad.mit.edu	37	chr15	99672121	99672121	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcaaagtccactgtccagaGaagtcatcttcctaggccct	8	13	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:99672121G>T	ENST00000336292.6	+	5	3673	c.3553G>T	c.(3553-3555)Gaa>Taa	p.E1185*	SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1186	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						ACTGTCCAGAGAAGTCATCTT	0.627																																					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.(3553-3555)Gaa>Taa		synemin, intermediate filament protein							26	28	28					15																	99672121		2011	4169	6180	SO:0001587	stop_gained	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.chr15:99672121G>T	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.3553G>T	15.37:g.99672121G>T	ENSP00000336775:p.Glu1185*		Somatic				SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR	p.E1185*	NM_145728.2	NP_663780.2	WXS	Illumina GAIIx	Phase_I	O15061	SYNEM_HUMAN			5	3673	+			1186			Interaction with TLN1 and VCL.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Nonsense_Mutation	SNP	ENST00000336292.6	37	c.3553G>T		.	.	.	.	.	.	.	.	.	.	G	42	9.604465	0.99217	.	.	ENSG00000182253	ENST00000336292	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	13.4706	0.61279	0.0:0.1563:0.8437:0.0	.	.	.	.	X	1185	.	ENSP00000336775:E1185X	E	+	1	0	SYNM	97489644	0.977000	0.34250	0.590000	0.28732	0.012000	0.07955	1.454000	0.35178	2.451000	0.82905	0.655000	0.94253	GAA		0.627	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		16	25	1	0	1.5739e-10	1	1.93697e-10	16	25					T	99672121	G	T	99672121	4	4	48	1	0	0	0	0	0	1	0	0	15470	943	33	2	3569	2	SYNM	15	99672121	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	171465	99672121	2859271	3518	7986										
LASS3	204219	broad.mit.edu	37	chr15	101031086	101031086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagtatttggtgtaacctttCgaactgtctctttaatgcca	7	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101031086C>T	ENST00000394113.1	-	6	914	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	CERS3_ENST00000538112.2_Missense_Mutation_p.R75Q|CERS3_ENST00000284382.4_Missense_Mutation_p.R75Q|CERS3_ENST00000560944.1_Intron			Q8IU89	CERS3_HUMAN	ceramide synthase 3	75					ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGTAACCTTTCGAACTGTCTC	0.308																																						ENST00000284382.4																			0											c.(223-225)cGa>cAa		ceramide synthase 3							107	106	106					15																	101031086		2203	4300	6503	SO:0001583	missense	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:101031086C>T		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.224G>A	15.37:g.101031086C>T	ENSP00000377672:p.Arg75Gln		Somatic				CERS3_ENST00000538112.2_Missense_Mutation_p.R75Q|CERS3_ENST00000394113.1_Missense_Mutation_p.R75Q|CERS3_ENST00000560944.1_Intron	p.R75Q	NM_178842.3	NP_849164.2	WXS	Illumina GAIIx	Phase_I	Q8IU89	CERS3_HUMAN			5	647	-			75					Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	c.224G>A	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815168	0.32053	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	T;T	0.29397	1.57;1.57	5.53	0.738	0.18319	Homeobox (1);Homeodomain-like (1);	1.605460	0.03792	N	0.263138	T	0.31104	0.0786	M	0.64170	1.965	0.09310	N	1	B	0.23377	0.084	B	0.17979	0.02	T	0.30090	-0.9990	10	0.62326	D	0.03	-4.0E-4	4.2125	0.10519	0.0:0.4108:0.1724:0.4168	.	75	Q8IU89	CERS3_HUMAN	Q	75;86;75	ENSP00000284382:R75Q;ENSP00000437640:R75Q	ENSP00000284382:R75Q	R	-	2	0	CERS3	98848609	0.007000	0.16637	0.005000	0.12908	0.571000	0.35966	-0.829000	0.04415	0.226000	0.20979	0.563000	0.77884	CGA		0.308	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		16	33	0	0	0	1	0	16	33					T	101031086	C	T	101031086	3	4	48	1	0	0	0	0	1	0	0	0	8649	884	31	1	963	1	LASS3	15	101031086	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1358965	101031086	1500306	3519	7987										
LASS3	204219	broad.mit.edu	37	chr15	101031134	101031134	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgctagaggtgaagcaacaAatctacaaaaatatgaaaag	8	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101031134A>C	ENST00000394113.1	-	6	866	c.176T>G	c.(175-177)tTt>tGt	p.F59C	CERS3_ENST00000538112.2_Missense_Mutation_p.F59C|CERS3_ENST00000284382.4_Missense_Mutation_p.F59C|CERS3_ENST00000560944.1_Intron			Q8IU89	CERS3_HUMAN	ceramide synthase 3	59					ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGAAGCAACAAATCTACAAAA	0.313																																						ENST00000284382.4																			0											c.(175-177)tTt>tGt		ceramide synthase 3							67	68	68					15																	101031134		2202	4299	6501	SO:0001583	missense	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:101031134A>C		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.176T>G	15.37:g.101031134A>C	ENSP00000377672:p.Phe59Cys		Somatic				CERS3_ENST00000538112.2_Missense_Mutation_p.F59C|CERS3_ENST00000394113.1_Missense_Mutation_p.F59C|CERS3_ENST00000560944.1_Intron	p.F59C	NM_178842.3	NP_849164.2	WXS	Illumina GAIIx	Phase_I	Q8IU89	CERS3_HUMAN			5	599	-			59					Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	c.176T>G	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.077268	0.36662	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	T;T	0.69040	-0.37;-0.37	5.66	3.26	0.37387	.	0.514735	0.22937	N	0.053829	T	0.61553	0.2356	M	0.66560	2.04	0.35444	D	0.795101	B	0.12630	0.006	B	0.06405	0.002	T	0.63037	-0.6726	10	0.59425	D	0.04	-4.6526	8.4421	0.32820	0.6875:0.0:0.0:0.3125	.	59	Q8IU89	CERS3_HUMAN	C	59;70;59	ENSP00000284382:F59C;ENSP00000437640:F59C	ENSP00000284382:F59C	F	-	2	0	CERS3	98848657	1.000000	0.71417	0.633000	0.29310	0.896000	0.52359	2.760000	0.47581	0.458000	0.26988	0.533000	0.62120	TTT		0.313	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		16	25	0	0	0	1	0	16	25					C	101031134	A	C	101031134	3	2	48	1	0	0	0	0	1	0	0	0	8649	14	1	4	1011	4	LASS3	15	101031134	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	48	101031134	1500258	3520	7988										
LINS1	55180	broad.mit.edu	37	chr15	101109703	101109703	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggaggctcaaggctaaattCttttttatccctgcttgtcc	8	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101109703C>A	ENST00000314742.8	-	7	2236	c.2014G>T	c.(2014-2016)Gaa>Taa	p.E672*	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	672										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						AGGCTAAATTCTTTTTTATCC	0.438																																						ENST00000314742.8																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						c.(2014-2016)Gaa>Taa		lines homolog (Drosophila)							87	86	86					15																	101109703		2203	4300	6503	SO:0001587	stop_gained	55180							g.chr15:101109703C>A	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"lines homolog 1 (Drosophila)"	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.2014G>T	15.37:g.101109703C>A	ENSP00000318423:p.Glu672*		Somatic					p.E672*	NM_001040616.2	NP_001035706.1	WXS	Illumina GAIIx	Phase_I	Q8NG48	LINES_HUMAN			7	2236	-			672					Q96FW2|Q9NVQ3	Nonsense_Mutation	SNP	ENST00000314742.8	37	c.2014G>T	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	C	38	6.820134	0.97861	.	.	ENSG00000140471	ENST00000314742	.	.	.	5.9	4.96	0.65561	.	0.659654	0.14943	N	0.289412	.	.	.	.	.	.	0.20703	N	0.999862	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-6.9507	17.5157	0.87772	0.0:0.8266:0.1734:0.0	.	.	.	.	X	672	.	ENSP00000318423:E672X	E	-	1	0	LINS	98927226	0.001000	0.12720	0.231000	0.23993	0.095000	0.18619	0.795000	0.26972	2.793000	0.96121	0.591000	0.81541	GAA		0.438	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		22	48	1	0	1.55795e-14	1	2.03067e-14	22	48					A	101109703	C	A	101109703	4	1	48	1	0	0	0	0	0	1	0	0	8827	922	32	2	263	2	LINS1	15	101109703	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	78569	101109703	1421689	3521	7989										
ALDH1A3	220	broad.mit.edu	37	chr15	101432738	101432738	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggagacgatggatacaggGaagccatttcttcatgcttt	11	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101432738G>A	ENST00000329841.5	+	4	901	c.369G>A	c.(367-369)ggG>ggA	p.G123G	ALDH1A3_ENST00000346623.6_Intron|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	123					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)	TGGATACAGGGAAGCCATTTC	0.463																																						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.(367-369)ggG>ggA		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)						162	157	159					15																	101432738		2203	4300	6503	SO:0001819	synonymous_variant	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101432738G>A	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.369G>A	15.37:g.101432738G>A			Somatic				ALDH1A3_ENST00000346623.6_Intron	p.G123G	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)		4	901	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		123					Q6NT64	Silent	SNP	ENST00000329841.5	37	c.369G>A	CCDS10389.1																																																																																				0.463	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			45	78	0	0	0	1	0	45	78					A	101432738	G	A	101432738	2	1	48	1	0	0	0	0	0	0	0	1	492	1161	41	3		3	ALDH1A3	15	101432738	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	323035	101432738	1098654	3522	7990										
LRRK1	79705	broad.mit.edu	37	chr15	101464879	101464879	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccccccagcatgtactggtgTgtggggccggaggagtcagc	16	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101464879T>G	ENST00000388948.3	+	2	401	c.42T>G	c.(40-42)tgT>tgG	p.C14W	LRRK1_ENST00000532029.2_Missense_Mutation_p.C14W|LRRK1_ENST00000284395.5_5'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)			TGTACTGGTGTGTGGGGCCGG	0.602																																						ENST00000388948.3																			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.(40-42)tgT>tgG		leucine-rich repeat kinase 1							109	126	120					15																	101464879		2203	4300	6503	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.chr15:101464879T>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.42T>G	15.37:g.101464879T>G	ENSP00000373600:p.Cys14Trp		Somatic				LRRK1_ENST00000532029.2_Missense_Mutation_p.C14W|LRRK1_ENST00000284395.5_5'UTR	p.C14W	NM_024652.3	NP_078928.3	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)		2	401	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		14						Missense_Mutation	SNP	ENST00000388948.3	37	c.42T>G	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.026718	0.54683	.	.	ENSG00000154237	ENST00000388948;ENST00000534045;ENST00000532029	T;T	0.74106	-0.81;2.59	5.6	5.6	0.85130	.	0.000000	0.52532	D	0.000071	T	0.77974	0.4211	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.99;0.998	T	0.80585	-0.1317	10	0.87932	D	0	.	12.1848	0.54231	0.0:0.0:0.0:1.0	.	14;14	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	W	14	ENSP00000373600:C14W;ENSP00000433268:C14W	ENSP00000373600:C14W	C	+	3	2	LRRK1	99282402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.237000	0.32695	2.123000	0.65237	0.533000	0.62120	TGT		0.602	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		12	81	0	0	0	1	0	12	81					G	101464879	T	G	101464879	3	3	48	1	0	0	0	0	1	0	0	0	9041	1702	59	4	44	4	LRRK1	15	101464879	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	32141	101464879	1066513	3523	7991										
SNRPA1	6627	broad.mit.edu	37	chr15	101832242	101832242	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgatcaagtccctcacctatAcggctaaaataaaaatagag	6	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101832242A>G	ENST00000254193.6	-	3	306	c.234T>C	c.(232-234)cgT>cgC	p.R78R	SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	78					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)			CCTCACCTATACGGCTAAAAT	0.388																																						ENST00000254193.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(232-234)cgT>cgC		small nuclear ribonucleoprotein polypeptide A'							116	124	121					15																	101832242		2203	4300	6503	SO:0001819	synonymous_variant	6627					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding	g.chr15:101832242A>G	AJ130971	CCDS10391.1	15q26.3	2011-10-11			ENSG00000131876	ENSG00000131876			11152	protein-coding gene	gene with protein product		603521				2928112	Standard	NM_003090		Approved	Lea1	uc002bww.3	P09661	OTTHUMG00000149871	ENST00000254193.6:c.234T>C	15.37:g.101832242A>G			Somatic				SNRPA1_ENST00000560856.1_5'UTR	p.R78R	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	306	-	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		78					B2R5I6|Q8TBD2	Silent	SNP	ENST00000254193.6	37	c.234T>C	CCDS10391.1																																																																																				0.388	SNRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313621.2	NM_003090		56	91	0	0	0	1	0	56	91					G	101832242	A	G	101832242	2	3	48	1	0	0	0	0	0	0	0	1	14875	378	14	4		4	SNRPA1	15	101832242	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	367363	101832242	699150	3524	7992										
PCSK6	5046	broad.mit.edu	37	chr15	101938712	101938712	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggcactgtaaatgtcgatgTagttgggtctgatgcccagc	13	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101938712T>C	ENST00000348070.1	-	8	889	c.890A>G	c.(889-891)tAc>tGc	p.Y297C	PCSK6_ENST00000331826.7_Missense_Mutation_p.Y132C|PCSK6_ENST00000344273.2_Missense_Mutation_p.Y297C|PCSK6_ENST00000398181.2_Missense_Mutation_p.Y297C|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.Y297C	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	298	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)			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)			AATGTCGATGTAGTTGGGTCT	0.607																																						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.(889-891)tAc>tGc		proprotein convertase subtilisin/kexin type 6							86	91	89					15																	101938712		2094	4256	6350	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.chr15:101938712T>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.890A>G	15.37:g.101938712T>C	ENSP00000305056:p.Tyr297Cys		Somatic				PCSK6_ENST00000398181.2_Missense_Mutation_p.Y297C|PCSK6_ENST00000331826.7_Missense_Mutation_p.Y132C|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Missense_Mutation_p.Y297C|PCSK6_ENST00000358417.3_Missense_Mutation_p.Y297C	p.Y297C	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	889	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		298			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.890A>G		.	.	.	.	.	.	.	.	.	.	T	26.3	4.720280	0.89205	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	5.19	5.19	0.71726	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.89605	0.6763	M	0.80183	2.485	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.995;0.981;0.976;0.981;0.986;0.991;0.99;0.992	D	0.90979	0.4826	10	0.72032	D	0.01	-44.4401	14.5228	0.67863	0.0:0.0:0.0:1.0	.	298;203;297;298;297;297;298;298;297	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	C	297;297;202;297;297;132	ENSP00000305056:Y297C;ENSP00000351193:Y297C;ENSP00000344410:Y297C;ENSP00000381243:Y297C;ENSP00000332052:Y132C	ENSP00000332052:Y132C	Y	-	2	0	PCSK6	99756235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.515000	0.81761	2.079000	0.62486	0.533000	0.62120	TAC		0.607	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		46	63	0	0	0	1	0	46	63					C	101938712	T	C	101938712	3	2	48	1	0	0	0	0	1	0	0	0	11613	1638	57	4	2559	4	PCSK6	15	101938712	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	106470	101938712	592680	3525	7993										
OR4F15	390649	broad.mit.edu	37	chr15	102359228	102359228	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttgatgcatttattactcCttttctgaatccagttatct	4	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:102359228C>A	ENST00000332238.4	+	1	863	c.839C>A	c.(838-840)cCt>cAt	p.P280H		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	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)			TTTATTACTCCTTTTCTGAAT	0.388																																						ENST00000332238.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19						c.(838-840)cCt>cAt		olfactory receptor, family 4, subfamily F, member 15							129	110	116					15																	102359228		2203	4300	6503	SO:0001583	missense	390649				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102359228C>A	BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"GPCR / Class A : Olfactory receptors"	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.839C>A	15.37:g.102359228C>A	ENSP00000333184:p.Pro280His		Somatic					p.P280H	NM_001001674.1	NP_001001674.1	WXS	Illumina GAIIx	Phase_I	Q8NGB8	O4F15_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	863	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		280					B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	c.839C>A	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	22.4	4.288229	0.80803	.	.	ENSG00000182854	ENST00000332238	T	0.00349	7.99	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02083	0.0065	H	0.99573	4.635	0.51233	D	0.999912	D	0.89917	1.0	D	0.83275	0.996	T	0.01844	-1.1262	8	.	.	.	.	16.8393	0.85964	0.0:1.0:0.0:0.0	.	280	Q8NGB8	O4F15_HUMAN	H	280	ENSP00000333184:P280H	.	P	+	2	0	OR4F15	100176751	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.136000	0.77285	2.843000	0.97960	0.650000	0.86243	CCT		0.388	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674		20	33	1	0	2.39187e-15	1	3.14903e-15	20	33					A	102359228	C	A	102359228	3	1	48	1	0	0	0	0	1	0	0	0	11070	681	24	5	841	5	OR4F15	15	102359228	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	420516	102359228	172164	3526	7994										
MPG	4350	broad.mit.edu	37	chr16	129447	129447	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgccgacggatggggcaaaaGaagcagcgaccagctagagc	15	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:129447G>T	ENST00000219431.4	+	3	294	c.63G>T	c.(61-63)aaG>aaT	p.K21N	MPG_ENST00000475280.1_3'UTR|MPG_ENST00000397817.1_Missense_Mutation_p.K4N	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	21					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)				TGGGGCAAAAGAAGCAGCGAC	0.562								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.(61-63)aaG>aaT	Base excision repair (BER), DNA glycosylases	N-methylpurine-DNA glycosylase							60	67	65					16																	129447		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.chr16:129447G>T		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.63G>T	16.37:g.129447G>T	ENSP00000219431:p.Lys21Asn		Somatic				MPG_ENST00000397817.1_Missense_Mutation_p.K4N|MPG_ENST00000475280.1_3'UTR	p.K21N	NM_002434.3	NP_002425.2	WXS	Illumina GAIIx	Phase_I	P29372	3MG_HUMAN			3	294	+		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)	21					G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Missense_Mutation	SNP	ENST00000219431.4	37	c.63G>T	CCDS32346.1	.	.	.	.	.	.	.	.	.	.	g	12.59	1.984207	0.35036	.	.	ENSG00000103152	ENST00000436333;ENST00000397817;ENST00000356432;ENST00000219431	T;T;T;T	0.10960	2.82;3.0;2.99;2.9	3.71	0.106	0.14540	.	0.581714	0.17423	N	0.174760	T	0.15739	0.0379	L	0.34521	1.04	0.24477	N	0.994364	D;P;D	0.71674	0.998;0.455;0.998	D;B;D	0.76071	0.987;0.247;0.987	T	0.13710	-1.0499	10	0.30854	T	0.27	-0.2516	5.9175	0.19063	0.5485:0.0:0.4515:0.0	.	4;16;21	A2IDA3;Q5J9I4;P29372	.;.;3MG_HUMAN	N	4;4;16;21	ENSP00000388097:K4N;ENSP00000380918:K4N;ENSP00000348809:K16N;ENSP00000219431:K21N	ENSP00000219431:K21N	K	+	3	2	MPG	69447	0.960000	0.32886	0.992000	0.48379	0.144000	0.21451	0.154000	0.16343	-0.004000	0.14419	-0.349000	0.07799	AAG		0.562	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			20	57	1	0	1.2644e-06	1	1.4261e-06	20	57					T	129447	G	T	129447	3	4	48	1	0	0	0	0	1	0	0	0	9733	933	33	2	97	2	MPG	16	129447	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08		129447	90225306	3527	7995										
C16orf11	146325	broad.mit.edu	37	chr16	613438	613438	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgccccttcacctgcctggaGaagtcacacctctacaacca	6	17	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:613438G>T	ENST00000409413.3	+	2	423	c.144G>T	c.(142-144)gaG>gaT	p.E48D		NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		48										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTGCCTGGAGAAGTCACACC	0.612																																						ENST00000409413.3																			0				central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(142-144)gaG>gaT		chromosome 16 open reading frame 11							109	119	116					16																	613438		2095	4214	6309	SO:0001583	missense	146325							g.chr16:613438G>T																												ENST00000409413.3:c.144G>T	16.37:g.613438G>T	ENSP00000386499:p.Glu48Asp		Somatic					p.E48D	NM_145270.2	NP_660313.1	WXS	Illumina GAIIx	Phase_I	P0CG20	CP011_HUMAN			2	423	+			48					B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	c.144G>T	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263935	0.95399	.	.	ENSG00000161992	ENST00000409413	.	.	.	4.96	4.96	0.65561	.	0.000000	0.48286	D	0.000185	T	0.78470	0.4288	M	0.71581	2.175	0.49915	D	0.999831	D	0.89917	1.0	D	0.80764	0.994	T	0.81040	-0.1113	9	0.66056	D	0.02	.	17.2001	0.86903	0.0:0.0:1.0:0.0	.	48	P0CG20	CP011_HUMAN	D	48	.	ENSP00000386499:E48D	E	+	3	2	C16orf11	553439	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.823000	0.86660	2.303000	0.77524	0.557000	0.71058	GAG		0.612	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			33	88	1	0	2.48696e-23	1	3.47605e-23	33	88					T	613438	G	T	613438	3	4	48	1	0	0	0	0	1	0	0	0	1812	933	33	2	146	2	C16orf11	16	613438	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	483991	613438	89741315	3528	7996										
JMJD8	339123	broad.mit.edu	37	chr16	733859	733859	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggacggacgggcacgcgctcAccgagttgtccgtgagtccc	15	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:733859A>G	ENST00000293882.4	-	3	435		c.e3+1		JMJD8_ENST00000609261.1_Splice_Site|JMJD8_ENST00000562111.1_Splice_Site|JMJD8_ENST00000412368.2_Splice_Site|JMJD8_ENST00000562824.1_Splice_Site|JMJD8_ENST00000454700.1_Splice_Site			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)				breast(1)	1						GCACGCGCTCACCGAGTTGTC	0.731																																						ENST00000293882.4																			0				breast(1)	1						c.e3+1		jumonji domain containing 8							8	12	11					16																	733859		1945	4093	6038	SO:0001630	splice_region_variant	339123							g.chr16:733859A>G		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 20"	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.435+1T>C	16.37:g.733859A>G			Somatic				JMJD8_ENST00000454700.1_Splice_Site|JMJD8_ENST00000562824.1_Splice_Site|JMJD8_ENST00000562111.1_Splice_Site|JMJD8_ENST00000412368.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q96S16	JMJD8_HUMAN			3	435	-								B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Splice_Site	SNP	ENST00000293882.4	37			.	.	.	.	.	.	.	.	.	.	a	13.42	2.231020	0.39399	.	.	ENSG00000161999	ENST00000412368;ENST00000293882;ENST00000454700	.	.	.	3.79	2.7	0.31948	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8392	0.29389	0.8973:0.0:0.1027:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JMJD8	673860	1.000000	0.71417	0.989000	0.46669	0.751000	0.42716	7.349000	0.79376	0.540000	0.28808	0.375000	0.23000	.		0.731	JMJD8-201	KNOWN	basic	protein_coding	protein_coding		NM_001005920	Intron	4	8	0	0	0	1	0	4	8					G	733859	A	G	733859	5	3	48	1	0	0	0	0	0	0	1	0	7965	173	6	4	595	4	JMJD8	16	733859	Splice_Site	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	120421	733859	89620894	3529	7997										
FBXL16	146330	broad.mit.edu	37	chr16	747067	747067	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acctgggccagcacacacttCtcgcaggccgagaaatacca	9	15	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:747067C>A	ENST00000397621.1	-	2	670	c.339G>T	c.(337-339)gaG>gaT	p.E113D	FBXL16_ENST00000562563.1_5'Flank|FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000324361.5_Missense_Mutation_p.E113D	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	113	F-box.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GCACACACTTCTCGCAGGCCG	0.662																																						ENST00000397621.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10						c.(337-339)gaG>gaT		F-box and leucine-rich repeat protein 16							27	29	28					16																	747067		2199	4297	6496	SO:0001583	missense	146330							g.chr16:747067C>A	BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"F-boxes / Leucine-rich repeats"	14150	protein-coding gene	gene with protein product		609082	"chromosome 16 open reading frame 22"	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.339G>T	16.37:g.747067C>A	ENSP00000380746:p.Glu113Asp		Somatic				FBXL16_ENST00000324361.5_Missense_Mutation_p.E113D	p.E113D	NM_153350.3	NP_699181.2	WXS	Illumina GAIIx	Phase_I	Q8N461	FXL16_HUMAN			2	670	-		Hepatocellular(780;0.0218)	113			F-box.		B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Missense_Mutation	SNP	ENST00000397621.1	37	c.339G>T	CCDS10421.1	.	.	.	.	.	.	.	.	.	.	c	12.44	1.938889	0.34189	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	T;T	0.18338	2.22;2.22	4.01	4.01	0.46588	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.25531	0.0621	L	0.33137	0.985	0.53005	D	0.999969	D	0.89917	1.0	D	0.83275	0.996	T	0.02184	-1.1199	10	0.02654	T	1	.	15.1067	0.72326	0.0:1.0:0.0:0.0	.	113	Q8N461	FXL16_HUMAN	D	113	ENSP00000380746:E113D;ENSP00000318674:E113D	ENSP00000318674:E113D	E	-	3	2	FBXL16	687068	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.547000	0.53663	1.798000	0.52647	0.313000	0.20887	GAG		0.662	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206851.2	NM_153350		19	42	1	0	0.000175454	1	0.000188314	19	42					A	747067	C	A	747067	3	1	48	1	0	0	0	0	1	0	0	0	5720	912	32	2	1120	2	FBXL16	16	747067	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	13208	747067	89607686	3530	7998										
PRR25	388199	broad.mit.edu	37	chr16	855733	855733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaaccagctcaggaacagcGcagccgctcgcaaatgcagt	10	15	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:855733G>A	ENST00000301698.1	+	1	291	c.291G>A	c.(289-291)gcG>gcA	p.A97A		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	97										large_intestine(1)|lung(1)|skin(1)	3						CAGGAACAGCGCAGCCGCTCG	0.647																																						ENST00000301698.1																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(289-291)gcG>gcA		proline rich 25							21	28	26					16																	855733		1938	4141	6079	SO:0001819	synonymous_variant	388199							g.chr16:855733G>A	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.291G>A	16.37:g.855733G>A			Somatic					p.A97A	NM_001013638.1	NP_001013660.1	WXS	Illumina GAIIx	Phase_I	Q96S07	PRR25_HUMAN			1	291	+			97						Silent	SNP	ENST00000301698.1	37	c.291G>A	CCDS45372.1																																																																																				0.647	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638		11	22	0	0	0	1	0	11	22					A	855733	G	A	855733	2	1	48	1	0	0	0	0	0	0	0	1	12609	1074	38	1		1	PRR25	16	855733	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	108666	855733	89499020	3531	7999										
SSTR5	6755	broad.mit.edu	37	chr16	1129540	1129540	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcctgtgctacctgctcatCgtggtgaaggtgagggcggc	16	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1129540C>T	ENST00000293897.4	+	1	760	c.672C>T	c.(670-672)atC>atT	p.I224I	SSTR5_ENST00000397547.2_Silent_p.I224I|SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000562758.1_Intron	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	224					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	ACCTGCTCATCGTGGTGAAGG	0.687																																						ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(670-672)atC>atT		somatostatin receptor 5	Octreotide(DB00104)						81	77	79					16																	1129540		2192	4295	6487	SO:0001819	synonymous_variant	0				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129540C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.672C>T	16.37:g.1129540C>T			Somatic				SSTR5_ENST00000397547.2_Silent_p.I224I|SSTR5_ENST00000562758.1_Intron	p.I224I	NM_001053.3	NP_001044.1	WXS	Illumina GAIIx	Phase_I	P35346	SSR5_HUMAN			1	760	+		Hepatocellular(780;0.00369)	224					P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	c.672C>T	CCDS10429.1																																																																																				0.687	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			17	25	0	0	0	1	0	17	25					T	1129540	C	T	1129540	2	4	48	1	0	0	0	0	0	0	0	1	15216	874	31	1		1	SSTR5	16	1129540	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	273807	1129540	89225213	3532	8000										
CACNA1H	8912	broad.mit.edu	37	chr16	1255242	1255242	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggaacccgtacaacatcttCgacggcatcatcgtggtcat	9	13	3	0	rs374317639		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1255242C>T	ENST00000348261.5	+	11	2828	c.2580C>T	c.(2578-2580)ttC>ttT	p.F860F	CACNA1H_ENST00000565831.1_Silent_p.F860F|CACNA1H_ENST00000358590.4_Silent_p.F860F|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	860					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)	ACAACATCTTCGACGGCATCA	0.602																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(2578-2580)ttC>ttT		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)	G	,	1,4117		0,1,2058	87	90	89		2580,2580	-5.3	0.6	16		89	0,8386		0,0,4193	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	0,1,6251	TT,TC,CC		0.0,0.0243,0.0080	,	860/2348,860/2354	1255242	1,12503	2059	4193	6252	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1255242C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2580C>T	16.37:g.1255242C>T			Somatic				CACNA1H_ENST00000565831.1_Silent_p.F860F|CACNA1H_ENST00000358590.4_Silent_p.F860F	p.F860F	NM_021098.2	NP_066921.2	WXS	Illumina GAIIx	Phase_I	O95180	CAC1H_HUMAN			11	2828	+		Hepatocellular(780;0.00369)	860					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.2580C>T	CCDS45375.1																																																																																				0.602	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		41	47	0	0	0	1	0	41	47					T	1255242	C	T	1255242	2	4	48	1	0	0	0	0	0	0	0	1	2547	883	31	1		1	CACNA1H	16	1255242	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	125702	1255242	89099511	3533	8001										
CACNA1H	8912	broad.mit.edu	37	chr16	1267977	1267977	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacgccaccttcagcaacttCggcatggccttcctcacgct	7	18	2	0	rs567978624	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1267977C>T	ENST00000348261.5	+	32	5630	c.5382C>T	c.(5380-5382)ttC>ttT	p.F1794F	CACNA1H_ENST00000565831.1_Silent_p.F1788F|CACNA1H_ENST00000358590.4_Silent_p.F1788F	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1794					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)	TCAGCAACTTCGGCATGGCCT	0.682													C|||	2	0.000399361	8e-04	0	5008	,	,		18398	0.001		0	False		,,,				2504	0					ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(5380-5382)ttC>ttT		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						25	31	29					16																	1267977		2136	4251	6387	SO:0001819	synonymous_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1267977C>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5382C>T	16.37:g.1267977C>T			Somatic				CACNA1H_ENST00000565831.1_Silent_p.F1788F|CACNA1H_ENST00000358590.4_Silent_p.F1788F	p.F1794F	NM_021098.2	NP_066921.2	WXS	Illumina GAIIx	Phase_I	O95180	CAC1H_HUMAN			32	5630	+		Hepatocellular(780;0.00369)	1794					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	c.5382C>T	CCDS45375.1																																																																																				0.682	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		6	9	0	0	0	1	0	6	9					T	1267977	C	T	1267977	2	4	48	1	0	0	0	0	0	0	0	1	2547	883	31	1		1	CACNA1H	16	1267977	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	12735	1267977	89086776	3534	8002										
CACNA1H	8912	broad.mit.edu	37	chr16	1270813	1270813	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgaccccagaatccagagCttcctcttcaggggccatag	10	13	2	3	rs540026021		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1270813C>A	ENST00000348261.5	+	35	7129	c.6881C>A	c.(6880-6882)gCt>gAt	p.A2294D	CACNA1H_ENST00000565831.1_Missense_Mutation_p.A2288D|CACNA1H_ENST00000358590.4_Missense_Mutation_p.A2288D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2294					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)	GAATCCAGAGCTTCCTCTTCA	0.632													c|||	1	0.000199681	0	0.0014	5008	,	,		14806	0		0	False		,,,				2504	0					ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(6880-6882)gCt>gAt		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						67	75	72					16																	1270813		1872	4100	5972	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1270813C>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		ENST00000348261.5:c.6881C>A	16.37:g.1270813C>A	ENSP00000334198:p.Ala2294Asp		Somatic				CACNA1H_ENST00000565831.1_Missense_Mutation_p.A2288D|CACNA1H_ENST00000358590.4_Missense_Mutation_p.A2288D	p.A2294D	NM_021098.2	NP_066921.2	WXS	Illumina GAIIx	Phase_I	O95180	CAC1H_HUMAN			35	7129	+		Hepatocellular(780;0.00369)	2294					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.6881C>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	c	5.849	0.340761	0.11069	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96802	-4.13;-4.08	2.42	-0.18	0.13295	.	7.823530	0.00166	N	0.000009	D	0.89508	0.6735	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.30482	0.281;0.001;0.148;0.001;0.18	B;B;B;B;B	0.29440	0.07;0.001;0.102;0.003;0.07	D	0.84463	0.0595	10	0.11794	T	0.64	.	2.539	0.04721	0.0:0.4279:0.2931:0.279	.	1040;1018;1024;2288;2294	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	D	2294;2288	ENSP00000334198:A2294D;ENSP00000351401:A2288D	ENSP00000334198:A2294D	A	+	2	0	CACNA1H	1210814	0.000000	0.05858	0.340000	0.25575	0.126000	0.20510	0.281000	0.18810	-0.008000	0.14320	0.580000	0.79431	GCT		0.632	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		33	77	1	0	7.61165e-28	1	1.08027e-27	33	77					A	1270813	C	A	1270813	3	1	48	1	0	0	0	0	1	0	0	0	2547	797	28	5	7015	5	CACNA1H	16	1270813	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2836	1270813	89083940	3535	8003										
CACNA1H	8912	broad.mit.edu	37	chr16	1270889	1270889	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccgtcggtgaccccccagaGaagaggcgggggctgtacct	15	14	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1270889G>T	ENST00000348261.5	+	35	7205	c.6957G>T	c.(6955-6957)gaG>gaT	p.E2319D	CACNA1H_ENST00000565831.1_Missense_Mutation_p.E2313D|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E2313D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2319					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)	ACCCCCCAGAGAAGAGGCGGG	0.652																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(6955-6957)gaG>gaT		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						56	62	60					16																	1270889		1846	4080	5926	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1270889G>T	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.6957G>T	16.37:g.1270889G>T	ENSP00000334198:p.Glu2319Asp		Somatic				CACNA1H_ENST00000565831.1_Missense_Mutation_p.E2313D|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E2313D	p.E2319D	NM_021098.2	NP_066921.2	WXS	Illumina GAIIx	Phase_I	O95180	CAC1H_HUMAN			35	7205	+		Hepatocellular(780;0.00369)	2319					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.6957G>T	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	g	11.44	1.639075	0.29157	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96651	-4.08;-4.03	3.85	2.87	0.33458	.	9.226020	0.00166	N	0.000011	D	0.96574	0.8882	N	0.24115	0.695	0.09310	N	1	B;D;D;D;B	0.61697	0.075;0.984;0.984;0.99;0.141	B;D;D;D;B	0.73380	0.01;0.956;0.956;0.98;0.019	D	0.88955	0.3389	10	0.66056	D	0.02	.	10.1079	0.42544	0.0:0.0:0.7991:0.2009	.	1065;1043;1049;2313;2319	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	D	2319;2313	ENSP00000334198:E2319D;ENSP00000351401:E2313D	ENSP00000334198:E2319D	E	+	3	2	CACNA1H	1210890	0.998000	0.40836	0.579000	0.28588	0.141000	0.21300	2.422000	0.44696	0.814000	0.34374	-0.300000	0.09419	GAG		0.652	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		30	60	1	0	1.39806e-14	1	1.82523e-14	30	60					T	1270889	G	T	1270889	3	4	48	1	0	0	0	0	1	0	0	0	2547	933	33	2	7091	2	CACNA1H	16	1270889	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	76	1270889	89083864	3536	8004										
BAIAP3	8938	broad.mit.edu	37	chr16	1394064	1394064	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttccgccttctctgagttCgggctgcagctgctgcgcca	11	15	1	1	rs368561329		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1394064C>T	ENST00000324385.5	+	16	1691	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	BAIAP3_ENST00000568887.1_Silent_p.F448F|BAIAP3_ENST00000426824.3_Silent_p.F476F|BAIAP3_ENST00000397489.1_Silent_p.F493F|BAIAP3_ENST00000421665.2_Silent_p.F440F|BAIAP3_ENST00000397488.2_Silent_p.F493F|BAIAP3_ENST00000562208.1_Silent_p.F453F	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	511					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCTCTGAGTTCGGGCTGCAGC	0.657																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1531-1533)ttC>ttT		BAI1-associated protein 3		C	,,,,	1,4397	2.1+/-5.4	0,1,2198	46	41	43		1320,1428,1359,1344,1533	-4.8	0.5	16		43	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP3	NM_001199096.1,NM_001199097.1,NM_001199098.1,NM_001199099.1,NM_003933.4	,,,,	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	,,,,	440/1117,476/1153,453/1130,448/1125,511/1188	1394064	1,12993	2199	4298	6497	SO:0001819	synonymous_variant	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1394064C>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1533C>T	16.37:g.1394064C>T			Somatic				BAIAP3_ENST00000568887.1_Silent_p.F448F|BAIAP3_ENST00000562208.1_Silent_p.F453F|BAIAP3_ENST00000421665.2_Silent_p.F440F|BAIAP3_ENST00000397488.2_Silent_p.F493F|BAIAP3_ENST00000397489.1_Silent_p.F493F|BAIAP3_ENST00000426824.3_Silent_p.F476F	p.F511F	NM_003933.4	NP_003924.2	WXS	Illumina GAIIx	Phase_I	O94812	BAIP3_HUMAN			16	1691	+		Hepatocellular(780;0.0893)	511					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	ENST00000324385.5	37	c.1533C>T	CCDS10434.1																																																																																				0.657	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			18	37	0	0	0	1	0	18	37					T	1394064	C	T	1394064	2	4	48	1	0	0	0	0	0	0	0	1	1304	883	31	1		1	BAIAP3	16	1394064	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	123175	1394064	88960689	3537	8005										
CLCN7	1186	broad.mit.edu	37	chr16	1510831	1510831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggatactgcccttgatgaccCtgtacttgaggccagccagg	12	12	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1510831C>T	ENST00000382745.4	-	5	1075	c.470G>A	c.(469-471)aGg>aAg	p.R157K	CLCN7_ENST00000262318.8_Missense_Mutation_p.R133K|CLCN7_ENST00000448525.1_Missense_Mutation_p.R133K	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	157					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CTTGATGACCCTGTACTTGAG	0.637																																						ENST00000382745.4																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24						c.(469-471)aGg>aAg		chloride channel, voltage-sensitive 7							93	78	83					16																	1510831		2199	4300	6499	SO:0001583	missense	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1510831C>T	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.470G>A	16.37:g.1510831C>T	ENSP00000372193:p.Arg157Lys		Somatic				CLCN7_ENST00000448525.1_Missense_Mutation_p.R133K|CLCN7_ENST00000262318.8_Missense_Mutation_p.R133K	p.R157K	NM_001287.5	NP_001278.1	WXS	Illumina GAIIx	Phase_I	P51798	CLCN7_HUMAN			5	1075	-		Hepatocellular(780;0.0893)	157					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	c.470G>A	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	C	4.418	0.077213	0.08485	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.84223	-1.82;-1.82	4.7	3.7	0.42460	Chloride channel, core (2);	0.650704	0.15751	N	0.246406	T	0.63686	0.2532	N	0.04508	-0.205	0.21220	N	0.999754	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49670	-0.8915	10	0.07644	T	0.81	-21.6841	7.1096	0.25382	0.0:0.7711:0.0:0.2289	.	133;157	E9PDB9;P51798	.;CLCN7_HUMAN	K	133;110;157;99	ENSP00000410907:R133K;ENSP00000372193:R157K	ENSP00000262318:R110K	R	-	2	0	CLCN7	1450832	0.000000	0.05858	0.776000	0.31678	0.951000	0.60555	0.416000	0.21198	0.828000	0.34709	0.591000	0.81541	AGG		0.637	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		15	41	0	0	0	1	0	15	41					T	1510831	C	T	1510831	3	4	48	1	0	0	0	0	1	0	0	0	3470	681	24	3	2031	3	CLCN7	16	1510831	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	116767	1510831	88843922	3538	8006										
ABCA3	21	broad.mit.edu	37	chr16	2354003	2354003	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taccagggctgaggcacgccGaactgccctgggaagacggc	15	13	0	2	rs199642666		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:2354003G>A	ENST00000301732.5	-	12	2134	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	ABCA3_ENST00000382381.3_Silent_p.F420F	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	478					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GAGGCACGCCGAACTGCCCTG	0.607													g|||	1	0.000199681	0	0	5008	,	,		17436	0		0	False		,,,				2504	0.001					ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(1432-1434)ttC>ttT		ATP-binding cassette, sub-family A (ABC1), member 3							130	114	119					16																	2354003		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2354003G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.1434C>T	16.37:g.2354003G>A			Somatic				ABCA3_ENST00000382381.3_Silent_p.F420F	p.F478F	NM_001089.2	NP_001080.2	WXS	Illumina GAIIx	Phase_I	Q99758	ABCA3_HUMAN			12	2134	-		Ovarian(90;0.17)	478					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.1434C>T	CCDS10466.1																																																																																				0.607	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		57	77	0	0	0	1	0	57	77					A	2354003	G	A	2354003	2	1	48	1	0	0	0	0	0	0	0	1	33	1049	37	1		1	ABCA3	16	2354003	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	843172	2354003	88000750	3539	8007										
ZNF174	7727	broad.mit.edu	37	chr16	3454597	3454597	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accggctgagcccccatcatTgggagaaatccccactcctc	8	17	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:3454597T>C	ENST00000268655.4	+	2	1159	c.574T>C	c.(574-576)Tgg>Cgg	p.W192R	ZNF174_ENST00000571936.1_Missense_Mutation_p.W192R|ZNF174_ENST00000572544.1_Missense_Mutation_p.W192R|ZNF174_ENST00000344823.5_Missense_Mutation_p.W192R|ZNF174_ENST00000575752.1_Missense_Mutation_p.W192R	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	192					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CCCCCATCATTGGGAGAAATC	0.552																																						ENST00000268655.4																			0				endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						c.(574-576)Tgg>Cgg		zinc finger protein 174							76	81	79					16																	3454597		2197	4300	6497	SO:0001583	missense	7727				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:3454597T>C	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"-", "Zinc fingers, C2H2-type"	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.574T>C	16.37:g.3454597T>C	ENSP00000268655:p.Trp192Arg		Somatic				LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000344823.5_Missense_Mutation_p.W192R|ZNF174_ENST00000572544.1_Missense_Mutation_p.W192R|ZNF174_ENST00000571936.1_Missense_Mutation_p.W192R|ZNF174_ENST00000575752.1_Missense_Mutation_p.W192R	p.W192R	NM_003450.2	NP_003441.1	WXS	Illumina GAIIx	Phase_I	Q15697	ZN174_HUMAN			2	1159	+			192					Q53Y68|Q9BQ34	Missense_Mutation	SNP	ENST00000268655.4	37	c.574T>C	CCDS10504.1	.	.	.	.	.	.	.	.	.	.	T	2.769	-0.256079	0.05829	.	.	ENSG00000103343	ENST00000344823;ENST00000268655	T;T	0.05855	4.24;3.38	5.05	0.907	0.19321	.	0.503430	0.17126	N	0.186018	T	0.03178	0.0093	N	0.14661	0.345	0.21579	N	0.999633	B;B;B	0.14012	0.001;0.009;0.005	B;B;B	0.14578	0.001;0.011;0.005	T	0.44697	-0.9311	10	0.23891	T	0.37	.	4.625	0.12474	0.2835:0.0:0.3525:0.3639	.	192;192;192	Q15697;Q15697-2;Q8IZN5	ZN174_HUMAN;.;.	R	192	ENSP00000339781:W192R;ENSP00000268655:W192R	ENSP00000268655:W192R	W	+	1	0	ZNF174	3394598	0.231000	0.23751	0.133000	0.22050	0.825000	0.46686	0.204000	0.17335	0.103000	0.17682	0.460000	0.39030	TGG		0.552	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450		39	82	0	0	0	1	0	39	82					C	3454597	T	C	3454597	3	2	48	1	0	0	0	0	1	0	0	0	17759	1812	63	4	580	4	ZNF174	16	3454597	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1100594	3454597	86900156	3540	8008										
CREBBP	1387	broad.mit.edu	37	chr16	3781414	3781414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgagcagggggtcggggtCgacgatggggggcagggtgt	24	6	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:3781414C>T	ENST00000262367.5	-	30	5760	c.4951G>A	c.(4951-4953)Gac>Aac	p.D1651N	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1613N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1651	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|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.D1651N(1)		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)		GGGTCGGGGTCGACGATGGGG	0.632			"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 "		1	Substitution - Missense(1)	p.D1651N(1)	large_intestine(1)	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.(4951-4953)Gac>Aac		CREB binding protein							35	25	28					16																	3781414		2194	4300	6494	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.chr16:3781414C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4951G>A	16.37:g.3781414C>T	ENSP00000262367:p.Asp1651Asn		Somatic				CREBBP_ENST00000382070.3_Missense_Mutation_p.D1613N	p.D1651N	NM_004380.2	NP_004371.2	WXS	Illumina GAIIx	Phase_I	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	30	5760	-		Ovarian(90;0.0266)	1651			Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4951G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	17.65	3.442700	0.63067	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.91521	-2.86;-2.76	5.87	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.91586	0.7342	M	0.92412	3.305	0.80722	D	1	B;B	0.34255	0.445;0.257	B;B	0.20577	0.03;0.011	D	0.91731	0.5396	10	0.87932	D	0	-27.8575	14.9851	0.71342	0.0:0.9319:0.0:0.0681	.	1681;1651	Q4LE28;Q92793	.;CBP_HUMAN	N	1651;1681;1613;186	ENSP00000262367:D1651N;ENSP00000371502:D1613N	ENSP00000262367:D1651N	D	-	1	0	CREBBP	3721415	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.818000	0.86416	1.498000	0.48600	-0.136000	0.14681	GAC		0.632	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		3	17	0	0	0	1	0	3	17					T	3781414	C	T	3781414	3	4	48	1	0	0	0	0	1	0	0	0	3863	884	31	1	2385	1	CREBBP	16	3781414	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	326817	3781414	86573339	3541	8009										
CREBBP	1387	broad.mit.edu	37	chr16	3789684	3789684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagcaaacagagctttggttCgatatgggaaagattcagac	11	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:3789684C>T	ENST00000262367.5	-	25	4984	c.4175G>A	c.(4174-4176)cGa>cAa	p.R1392Q	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1354Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1392	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)		AGCTTTGGTTCGATATGGGAA	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.(4174-4176)cGa>cAa		CREB binding protein							82	76	78					16																	3789684		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.chr16:3789684C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4175G>A	16.37:g.3789684C>T	ENSP00000262367:p.Arg1392Gln		Somatic				CREBBP_ENST00000382070.3_Missense_Mutation_p.R1354Q	p.R1392Q	NM_004380.2	NP_004371.2	WXS	Illumina GAIIx	Phase_I	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	25	4984	-		Ovarian(90;0.0266)	1392			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4175G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	29.2	4.989285	0.93106	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.93763	-3.28;-3.28	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000005	D	0.97046	0.9035	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	D	0.97115	0.9807	10	0.72032	D	0.01	-12.7816	19.8419	0.96692	0.0:1.0:0.0:0.0	.	1422;1392	Q4LE28;Q92793	.;CBP_HUMAN	Q	1392;1422;1354	ENSP00000262367:R1392Q;ENSP00000371502:R1354Q	ENSP00000262367:R1392Q	R	-	2	0	CREBBP	3729685	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.713000	0.84693	2.767000	0.95098	0.561000	0.74099	CGA		0.473	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		17	43	0	0	0	1	0	17	43					T	3789684	C	T	3789684	3	4	48	1	0	0	0	0	1	0	0	0	3863	884	31	1	3181	1	CREBBP	16	3789684	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	8270	3789684	86565069	3542	8010										
CREBBP	1387	broad.mit.edu	37	chr16	3817823	3817823	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttcacttcaggtttcttttCatccacttccattggttctg	5	11	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:3817823C>A	ENST00000262367.5	-	16	3957	c.3148G>T	c.(3148-3150)Gaa>Taa	p.E1050*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.E1012*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1050					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)		GGTTTCTTTTCATCCACTTCC	0.433			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(3148-3150)Gaa>Taa		CREB binding protein							250	223	232					16																	3817823		2197	4300	6497	SO:0001587	stop_gained	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.chr16:3817823C>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.3148G>T	16.37:g.3817823C>A	ENSP00000262367:p.Glu1050*		Somatic				CREBBP_ENST00000382070.3_Nonsense_Mutation_p.E1012*	p.E1050*	NM_004380.2	NP_004371.2	WXS	Illumina GAIIx	Phase_I	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	16	3957	-		Ovarian(90;0.0266)	1050					D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.3148G>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	49	15.549454	0.99837	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.61	5.61	0.85477	.	0.069937	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-12.7639	20.0086	0.97443	0.0:1.0:0.0:0.0	.	.	.	.	X	1050;1080;1012	.	ENSP00000262367:E1050X	E	-	1	0	CREBBP	3757824	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.451000	0.66632	2.808000	0.96608	0.655000	0.94253	GAA		0.433	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		35	56	1	0	2.20262e-25	1	3.10409e-25	35	56					A	3817823	C	A	3817823	4	1	48	1	0	0	0	0	0	1	0	0	3863	835	29	2	4244	2	CREBBP	16	3817823	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	28139	3817823	86536930	3543	8011										
MGRN1	23295	broad.mit.edu	37	chr16	4707338	4707338	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccctgccctccttcaagattGacttctcggaatggaaggat	9	12	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4707338G>T	ENST00000399577.5	+	5	628	c.535G>T	c.(535-537)Gac>Tac	p.D179Y	MGRN1_ENST00000262370.7_Missense_Mutation_p.D179Y|MGRN1_ENST00000586183.1_Missense_Mutation_p.D179Y|MGRN1_ENST00000415496.1_Missense_Mutation_p.D179Y|MGRN1_ENST00000588994.1_Missense_Mutation_p.D179Y	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	179					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						CTTCAAGATTGACTTCTCGGA	0.602																																						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.(535-537)Gac>Tac		mahogunin ring finger 1, E3 ubiquitin protein ligase							83	87	85					16																	4707338		2029	4175	6204	SO:0001583	missense	0				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.chr16:4707338G>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.535G>T	16.37:g.4707338G>T	ENSP00000382487:p.Asp179Tyr		Somatic				MGRN1_ENST00000415496.1_Missense_Mutation_p.D179Y|MGRN1_ENST00000262370.7_Missense_Mutation_p.D179Y|MGRN1_ENST00000586183.1_Missense_Mutation_p.D179Y|MGRN1_ENST00000588994.1_Missense_Mutation_p.D179Y	p.D179Y	NM_001142290.2	NP_001135762.1	WXS	Illumina GAIIx	Phase_I	O60291	MGRN1_HUMAN			5	628	+			179					A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	ENST00000399577.5	37	c.535G>T	CCDS45402.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670155	0.67814	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.22	5.22	0.72569	.	0.091990	0.64402	D	0.000001	T	0.59376	0.2189	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.998;1.0;1.0;0.999	D;D;P;D;D;D	0.79108	0.978;0.992;0.873;0.968;0.987;0.971	T	0.60469	-0.7257	10	0.52906	T	0.07	-41.5643	17.3562	0.87336	0.0:0.0:1.0:0.0	.	179;179;179;179;179;179	O60291-4;O60291-3;B4DR12;E9PB19;O60291-2;O60291	.;.;.;.;.;MGRN1_HUMAN	Y	179	ENSP00000262370:D179Y;ENSP00000382487:D179Y;ENSP00000393311:D179Y;ENSP00000443810:D179Y	ENSP00000262370:D179Y	D	+	1	0	MGRN1	4647339	1.000000	0.71417	0.989000	0.46669	0.383000	0.30230	6.653000	0.74382	2.434000	0.82447	0.561000	0.74099	GAC		0.602	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			29	40	1	0	2.12542e-12	1	2.68024e-12	29	40					T	4707338	G	T	4707338	3	4	48	1	0	0	0	0	1	0	0	0	9568	1290	45	2	553	2	MGRN1	16	4707338	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	889515	4707338	85647415	3544	8012										
C16orf71	146562	broad.mit.edu	37	chr16	4794991	4794991	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgacactccccaggacaccaAagaggcagattcaggaagca	10	13	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4794991A>G	ENST00000299320.5	+	6	1500	c.1022A>G	c.(1021-1023)aAa>aGa	p.K341R	C16orf71_ENST00000590191.1_Missense_Mutation_p.K355R|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	341										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CAGGACACCAAAGAGGCAGAT	0.602																																						ENST00000299320.5																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(1021-1023)aAa>aGa		chromosome 16 open reading frame 71							58	54	56					16																	4794991		2197	4300	6497	SO:0001583	missense	146562							g.chr16:4794991A>G	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.1022A>G	16.37:g.4794991A>G	ENSP00000299320:p.Lys341Arg		Somatic				C16orf71_ENST00000590191.1_Missense_Mutation_p.K355R|RP11-127I20.7_ENST00000588099.1_RNA	p.K341R	NM_139170.2	NP_631909.2	WXS	Illumina GAIIx	Phase_I	Q8IYS4	CP071_HUMAN			6	1500	+			341					Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	c.1022A>G	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	A	9.710	1.156697	0.21454	.	.	ENSG00000166246	ENST00000299320;ENST00000411541	T	0.06608	3.28	3.82	-1.07	0.09968	.	4.113190	0.00903	N	0.002366	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.39292	-0.9621	10	0.48119	T	0.1	0.0636	3.8414	0.08915	0.4695:0.1982:0.3323:0.0	.	341	Q8IYS4	CP071_HUMAN	R	341;96	ENSP00000299320:K341R	ENSP00000299320:K341R	K	+	2	0	C16orf71	4734992	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.616000	0.02053	-0.229000	0.09854	0.459000	0.35465	AAA		0.602	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		5	70	0	0	0	1	0	5	70					G	4794991	A	G	4794991	3	3	48	1	0	0	0	0	1	0	0	0	1832	14	1	4	1040	4	C16orf71	16	4794991	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	87653	4794991	85559762	3545	8013										
UBN1	29855	broad.mit.edu	37	chr16	4908061	4908061	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtagaggcccttgcccgaaAatttgaagaaaaatacgtaa	9	7	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4908061A>C	ENST00000396658.4	+	2	1023	c.320A>C	c.(319-321)aAa>aCa	p.K107T	UBN1_ENST00000590769.1_Missense_Mutation_p.K107T|UBN1_ENST00000262376.6_Missense_Mutation_p.K107T|UBN1_ENST00000545171.1_Missense_Mutation_p.K107T	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	107	Sufficient for interaction with HIRA.				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						CTTGCCCGAAAATTTGAAGAA	0.378																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(319-321)aAa>aCa		ubinuclein 1							54	57	56					16																	4908061		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.chr16:4908061A>C	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.320A>C	16.37:g.4908061A>C	ENSP00000379894:p.Lys107Thr		Somatic				UBN1_ENST00000590769.1_Missense_Mutation_p.K107T|UBN1_ENST00000262376.6_Missense_Mutation_p.K107T|UBN1_ENST00000545171.1_Missense_Mutation_p.K107T	p.K107T	NM_016936.3	NP_058632.2	WXS	Illumina GAIIx	Phase_I	Q9NPG3	UBN1_HUMAN			2	1023	+			107			Sufficient for interaction with HIRA.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.320A>C	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084331	0.76642	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.52983	1.23;0.64;1.23	5.24	5.24	0.73138	.	0.048454	0.85682	D	0.000000	T	0.63450	0.2512	M	0.67397	2.05	0.50813	D	0.999893	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.96	T	0.66897	-0.5807	10	0.87932	D	0	-11.7424	9.3674	0.38232	0.9193:0.0:0.0807:0.0	.	107;107	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	T	107	ENSP00000262376:K107T;ENSP00000442379:K107T;ENSP00000379894:K107T	ENSP00000262376:K107T	K	+	2	0	UBN1	4848062	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.915000	0.69973	1.984000	0.57885	0.460000	0.39030	AAA		0.378	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		22	53	0	0	0	1	0	22	53					C	4908061	A	C	4908061	3	2	48	1	0	0	0	0	1	0	0	0	16907	14	1	4	326	4	UBN1	16	4908061	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	113070	4908061	85446692	3546	8014										
UBN1	29855	broad.mit.edu	37	chr16	4910743	4910743	+	Missense_Mutation	SNP	G	G	T													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcgttaaagagatgctaaaGaaatttcagaaagagaaaga							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4910743G>T	ENST00000396658.4	+	6	1453	c.750G>T	c.(748-750)aaG>aaT	p.K250N	UBN1_ENST00000590769.1_Missense_Mutation_p.K250N|UBN1_ENST00000262376.6_Missense_Mutation_p.K250N|UBN1_ENST00000545171.1_Missense_Mutation_p.K250N	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	250	Lys-rich.				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						AGATGCTAAAGAAATTTCAGA	0.488																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(748-750)aaG>aaT		ubinuclein 1							97	108	105					16																	4910743		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.chr16:4910743G>T	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.750G>T	16.37:g.4910743G>T	ENSP00000379894:p.Lys250Asn		Somatic				UBN1_ENST00000590769.1_Missense_Mutation_p.K250N|UBN1_ENST00000262376.6_Missense_Mutation_p.K250N|UBN1_ENST00000545171.1_Missense_Mutation_p.K250N	p.K250N	NM_016936.3	NP_058632.2	WXS	Illumina GAIIx	Phase_I	Q9NPG3	UBN1_HUMAN			6	1453	+			250			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.750G>T	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770235	0.69992	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.51574	1.29;0.7;1.29	5.77	5.77	0.91146	.	0.151863	0.64402	D	0.000018	T	0.59404	0.2191	L	0.48642	1.525	0.58432	D	0.999991	D;D	0.56746	0.977;0.961	P;P	0.55923	0.787;0.617	T	0.55328	-0.8158	10	0.48119	T	0.1	-21.9386	20.3473	0.98799	0.0:0.0:1.0:0.0	.	250;250	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	N	250	ENSP00000262376:K250N;ENSP00000442379:K250N;ENSP00000379894:K250N	ENSP00000262376:K250N	K	+	3	2	UBN1	4850744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.168000	0.58216	2.884000	0.98904	0.655000	0.94253	AAG		0.488	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		40	84	1	0	1.66425e-11	1	2.0722e-11	40	84					T	4910743	G	T	4910743	3	4	48	1	0	0	0	0	1	0	0	0	16907	933	33	2	772	2	UBN1	16	4910743	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2682	4910743	85444010	3547	8015	22	2								
UBN1	29855	broad.mit.edu	37	chr16	4910745	4910745	+	Missense_Mutation	SNP	A	A	C													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgttaaagagatgctaaagaAatttcagaaagagaaagagg							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4910745A>C	ENST00000396658.4	+	6	1455	c.752A>C	c.(751-753)aAa>aCa	p.K251T	UBN1_ENST00000590769.1_Missense_Mutation_p.K251T|UBN1_ENST00000262376.6_Missense_Mutation_p.K251T|UBN1_ENST00000545171.1_Missense_Mutation_p.K251T	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	251	Lys-rich.				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						ATGCTAAAGAAATTTCAGAAA	0.483																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(751-753)aAa>aCa		ubinuclein 1							96	107	104					16																	4910745		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.chr16:4910745A>C	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.752A>C	16.37:g.4910745A>C	ENSP00000379894:p.Lys251Thr		Somatic				UBN1_ENST00000590769.1_Missense_Mutation_p.K251T|UBN1_ENST00000262376.6_Missense_Mutation_p.K251T|UBN1_ENST00000585857.1_Intron|UBN1_ENST00000545171.1_Missense_Mutation_p.K251T	p.K251T	NM_016936.3	NP_058632.2	WXS	Illumina GAIIx	Phase_I	Q9NPG3	UBN1_HUMAN			6	1455	+			251			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.752A>C	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.726873	0.69074	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.55588	1.11;0.51;1.11	5.77	5.77	0.91146	.	0.046558	0.85682	D	0.000000	T	0.68174	0.2972	M	0.65975	2.015	0.46586	D	0.99911	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.96	T	0.71210	-0.4660	10	0.72032	D	0.01	-16.8741	10.6922	0.45877	0.9288:0.0:0.0712:0.0	.	251;251	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	T	251	ENSP00000262376:K251T;ENSP00000442379:K251T;ENSP00000379894:K251T	ENSP00000262376:K251T	K	+	2	0	UBN1	4850746	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.621000	0.54210	2.326000	0.78906	0.533000	0.62120	AAA		0.483	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		49	72	0	0	0	1	0	49	72					C	4910745	A	C	4910745	3	2	48	1	0	0	0	0	1	0	0	0	16907	14	1	4	774	4	UBN1	16	4910745	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2	4910745	85444008	3548	8016	22	2								
C16orf89	146556	broad.mit.edu	37	chr16	5115773	5115773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgttctaggaagacggtgGctctctccagcgcagacagg	13	11	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:5115773G>A	ENST00000315997.5	-	1	338	c.137C>T	c.(136-138)gCc>gTc	p.A46V	C16orf89_ENST00000350219.4_Missense_Mutation_p.A84V|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Missense_Mutation_p.A46V|C16orf89_ENST00000474471.3_Missense_Mutation_p.A46V|C16orf89_ENST00000422873.1_Missense_Mutation_p.A84V	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	46						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						GAAGACGGTGGCTCTCTCCAG	0.587																																						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.(136-138)gCc>gTc		chromosome 16 open reading frame 89							67	72	70					16																	5115773		2093	4234	6327	SO:0001583	missense	146556					extracellular region		g.chr16:5115773G>A		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.137C>T	16.37:g.5115773G>A	ENSP00000324672:p.Ala46Val		Somatic				ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.A84V|C16orf89_ENST00000474471.3_Missense_Mutation_p.A46V|C16orf89_ENST00000350219.4_Missense_Mutation_p.A84V|C16orf89_ENST00000472572.3_Missense_Mutation_p.A46V	p.A46V	NM_152459.4	NP_689672.4	WXS	Illumina GAIIx	Phase_I	Q6UX73	CP089_HUMAN			1	338	-			46					B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	c.137C>T	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732112	0.69189	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.08	4.13	0.48395	.	0.239846	0.33980	N	0.004372	T	0.34308	0.0893	L	0.49126	1.545	0.35513	D	0.800825	P;P	0.51537	0.911;0.946	B;P	0.48677	0.382;0.586	T	0.37731	-0.9693	10	0.09084	T	0.74	-22.1617	9.3727	0.38264	0.0992:0.0:0.9008:0.0	.	46;84	Q6UX73;G3V0F0	CP089_HUMAN;.	V	46;46;46;84;84;46	ENSP00000417158:A46V;ENSP00000420566:A46V;ENSP00000390402:A84V;ENSP00000283478:A84V;ENSP00000324672:A46V	ENSP00000324672:A46V	A	-	2	0	C16orf89	5055774	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	3.870000	0.56070	1.144000	0.42321	0.650000	0.86243	GCC		0.587	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		26	43	0	0	0	1	0	26	43					A	5115773	G	A	5115773	3	1	48	1	0	0	0	0	1	0	0	0	1844	1203	42	3	1238	3	C16orf89	16	5115773	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	205028	5115773	85238980	3549	8017										
TMEM186	25880	broad.mit.edu	37	chr16	8890295	8890295	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacatccagaatttctcagtCtctgcgtttggtagtttctc	7	10	3	1	rs145897590		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:8890295C>A	ENST00000333050.6	-	2	189	c.156G>T	c.(154-156)gaG>gaT	p.E52D	PMM2_ENST00000566983.1_Intron|PMM2_ENST00000539622.1_5'Flank|PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000569958.1_5'Flank|PMM2_ENST00000268261.4_5'Flank|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	52						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						ATTTCTCAGTCTCTGCGTTTG	0.537																																						ENST00000333050.6																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(154-156)gaG>gaT		transmembrane protein 186							139	140	140					16																	8890295		2197	4300	6497	SO:0001583	missense	25880					integral to membrane|mitochondrion		g.chr16:8890295C>A	BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 51"	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.156G>T	16.37:g.8890295C>A	ENSP00000331640:p.Glu52Asp		Somatic				TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000566983.1_Intron	p.E52D	NM_015421.3	NP_056236.2	WXS	Illumina GAIIx	Phase_I	Q96B77	TM186_HUMAN			2	189	-			52					B2RAY0|Q9Y4T4	Missense_Mutation	SNP	ENST00000333050.6	37	c.156G>T	CCDS10535.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365888	0.41902	.	.	ENSG00000184857	ENST00000333050	.	.	.	5.18	5.18	0.71444	.	0.309039	0.23093	N	0.052001	T	0.53722	0.1814	M	0.70595	2.14	0.28239	N	0.92576	D	0.54964	0.969	P	0.55011	0.766	T	0.53472	-0.8434	9	0.45353	T	0.12	-5.0995	10.1883	0.43011	0.0:0.9081:0.0:0.0919	.	52	Q96B77	TM186_HUMAN	D	52	.	ENSP00000331640:E52D	E	-	3	2	TMEM186	8797796	0.001000	0.12720	0.481000	0.27354	0.407000	0.30961	0.278000	0.18753	2.581000	0.87130	0.561000	0.74099	GAG		0.537	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421		37	71	1	0	3.09479e-21	1	4.27043e-21	37	71					A	8890295	C	A	8890295	3	1	48	1	0	0	0	0	1	0	0	0	16123	912	32	2	489	2	TMEM186	16	8890295	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3774522	8890295	81464458	3550	8018										
USP7	7874	broad.mit.edu	37	chr16	8989562	8989562	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatagttcatcttcttgatgAacaccaatgattttgtagct	6	7	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:8989562A>C	ENST00000344836.4	-	27	3054	c.2856T>G	c.(2854-2856)gtT>gtG	p.V952V	USP7_ENST00000381886.4_Silent_p.V936V|USP7_ENST00000535863.1_Silent_p.V853V	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	952					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTCTTGATGAACACCAATGA	0.363																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2854-2856)gtT>gtG		ubiquitin specific peptidase 7 (herpes virus-associated)							64	62	63					16																	8989562		2197	4300	6497	SO:0001819	synonymous_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8989562A>C	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2856T>G	16.37:g.8989562A>C			Somatic				USP7_ENST00000535863.1_Silent_p.V853V|USP7_ENST00000381886.4_Silent_p.V936V	p.V952V	NM_003470.2	NP_003461.2	WXS	Illumina GAIIx	Phase_I	Q93009	UBP7_HUMAN			27	3054	-			952					A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	c.2856T>G	CCDS32385.1																																																																																				0.363	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			7	22	0	0	0	1	0	7	22					C	8989562	A	C	8989562	2	2	48	1	0	0	0	0	0	0	0	1	17103	233	9	4		4	USP7	16	8989562	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	99267	8989562	81365191	3551	8019										
GRIN2A	2903	broad.mit.edu	37	chr16	10274037	10274037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtgatgaggctcttggggtCggtgcggttcatcagcagag	17	8	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:10274037C>T	ENST00000396573.2	-	3	541	c.232G>A	c.(232-234)Gac>Aac	p.D78N	GRIN2A_ENST00000404927.2_Missense_Mutation_p.D78N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D78N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D78N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D78N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	78					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)	CTCTTGGGGTCGGTGCGGTTC	0.667																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(232-234)Gac>Aac		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						96	93	94					16																	10274037		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10274037C>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.232G>A	16.37:g.10274037C>T	ENSP00000379818:p.Asp78Asn		Somatic				GRIN2A_ENST00000404927.2_Missense_Mutation_p.D78N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D78N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D78N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D78N	p.D78N	NM_000833.3	NP_000824.1	WXS	Illumina GAIIx	Phase_I	Q12879	NMDE1_HUMAN			3	541	-			78					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.232G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064463	0.76187	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.91415	0.7291	L	0.48362	1.52	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.968	P;D;B	0.64321	0.734;0.924;0.252	D	0.90902	0.4769	9	.	.	.	.	16.2901	0.82747	0.0:1.0:0.0:0.0	.	78;78;78	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	78	ENSP00000379818:D78N;ENSP00000385872:D78N;ENSP00000332549:D78N;ENSP00000379820:D78N	.	D	-	1	0	GRIN2A	10181538	1.000000	0.71417	0.986000	0.45419	0.955000	0.61496	5.994000	0.70623	2.088000	0.63022	0.561000	0.74099	GAC		0.667	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			46	95	0	0	0	1	0	46	95					T	10274037	C	T	10274037	3	4	48	1	0	0	0	0	1	0	0	0	6788	884	31	1	4210	1	GRIN2A	16	10274037	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1284475	10274037	80080716	3552	8020										
ATF7IP2	80063	broad.mit.edu	37	chr16	10534236	10534236	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctaggcaaaaatagcaaaaCttcaaagacgtattaaaaca	5	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:10534236C>A	ENST00000396560.2	+	6	1338	c.1111C>A	c.(1111-1113)Ctt>Att	p.L371I	ATF7IP2_ENST00000356427.2_Missense_Mutation_p.L371I|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.L371I|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.L371I	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						AATAGCAAAACTTCAAAGACG	0.294																																						ENST00000396560.2																			0				large_intestine(3)	3						c.(1111-1113)Ctt>Att		activating transcription factor 7 interacting protein 2							33	35	34					16																	10534236		2189	4290	6479	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10534236C>A	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1111C>A	16.37:g.10534236C>A	ENSP00000379808:p.Leu371Ile		Somatic				ATF7IP2_ENST00000324570.5_Missense_Mutation_p.L371I|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.L371I|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.L371I|ATF7IP2_ENST00000543967.1_Intron	p.L371I	NM_024997.3	NP_079273.2	WXS	Illumina GAIIx	Phase_I	Q5U623	MCAF2_HUMAN			6	1338	+			371					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.1111C>A	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940528	0.52972	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.42	3.45	0.39498	.	0.000000	0.46758	D	0.000265	T	0.50429	0.1615	L	0.59436	1.845	0.26599	N	0.973055	D;D	0.60160	0.987;0.971	P;P	0.55749	0.64;0.783	T	0.45264	-0.9273	10	0.87932	D	0	-4.753	9.9136	0.41421	0.2044:0.7956:0.0:0.0	.	371;371	Q5U623-2;Q5U623	.;MCAF2_HUMAN	I	371	ENSP00000379807:L371I;ENSP00000379808:L371I;ENSP00000440791:L371I;ENSP00000348799:L371I;ENSP00000322811:L371I	ENSP00000322811:L371I	L	+	1	0	ATF7IP2	10441737	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	2.227000	0.42972	0.950000	0.37743	-0.282000	0.10007	CTT		0.294	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		5	12	1	0	0.217242	1	0.218251	5	12					A	10534236	C	A	10534236	3	1	48	1	0	0	0	0	1	0	0	0	1088	565	20	5	1125	5	ATF7IP2	16	10534236	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	260199	10534236	79820517	3553	8021										
ERCC4	2072	broad.mit.edu	37	chr16	14029408	14029408	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atttgatgtaaatttgtcatCggatgctgctttcggaatcc	9	7	1	1	rs368830992		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:14029408C>T	ENST00000311895.7	+	8	1628	c.1619C>T	c.(1618-1620)tCg>tTg	p.S540L	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	540					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						AATTTGTCATCGGATGCTGCT	0.468			"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.(1618-1620)tCg>tTg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 4		C	LEU/SER	0,4394		0,0,2197	61	64	63		1619	5.1	0.1	16		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	ERCC4	NM_005236.2	145	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	540/917	14029408	1,12993	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.chr16:14029408C>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.1619C>T	16.37:g.14029408C>T	ENSP00000310520:p.Ser540Leu		Somatic				CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	p.S540L	NM_005236.2	NP_005227.1	WXS	Illumina GAIIx	Phase_I	Q92889	XPF_HUMAN			8	1628	+			540					A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.1619C>T	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016534	0.75161	0.0	1.16E-4	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.60171	0.21	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.58250	0.2109	L	0.52126	1.63	0.80722	D	1	D	0.60160	0.987	P	0.46885	0.53	T	0.56378	-0.7989	10	0.28530	T	0.3	-19.3108	17.9232	0.88973	0.0:1.0:0.0:0.0	.	540	Q92889	XPF_HUMAN	L	540;529	ENSP00000310520:S540L	ENSP00000310520:S540L	S	+	2	0	ERCC4	13936909	1.000000	0.71417	0.055000	0.19348	0.663000	0.39108	7.445000	0.80570	2.533000	0.85409	0.591000	0.81541	TCG		0.468	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		30	56	0	0	0	1	0	30	56					T	14029408	C	T	14029408	3	4	48	1	0	0	0	0	1	0	0	0	5217	893	31	1	1649	1	ERCC4	16	14029408	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3495172	14029408	76325345	3554	8022										
BFAR	51283	broad.mit.edu	37	chr16	14761493	14761493	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttctcttcttgtttcaggAccgtgcctcagaggatgtgg	11	10	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:14761493A>G	ENST00000261658.2	+	8	1439	c.1162A>G	c.(1162-1164)Acc>Gcc	p.T388A	BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000426842.2_Splice_Site_p.T260A|BFAR_ENST00000563971.1_Splice_Site_p.T263A	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	388					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TTGTTTCAGGACCGTGCCTCA	0.557																																						ENST00000261658.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						c.e8-1		bifunctional apoptosis regulator							113	113	113					16																	14761493		2197	4300	6497	SO:0001630	splice_region_variant	51283				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	g.chr16:14761493A>G	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"RING-type (C3HC4) zinc fingers", "Sterile alpha motif (SAM) domain containing"	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.1161-1A>G	16.37:g.14761493A>G			Somatic				BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000563971.1_Splice_Site_p.T263_splice|BFAR_ENST00000426842.2_Splice_Site_p.T260_splice	p.T388_splice	NM_016561.2	NP_057645.1	WXS	Illumina GAIIx	Phase_I	Q9NZS9	BFAR_HUMAN			8	1439	+			388					A8K4Z9|B4DUT0|D3DUG8	Splice_Site	SNP	ENST00000261658.2	37	c.1160_splice	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.356211	0.61293	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.50001	3.09;0.76	5.59	5.59	0.84812	.	0.172968	0.51477	D	0.000082	T	0.34978	0.0916	N	0.19112	0.55	0.42105	D	0.991352	B;B;B	0.34372	0.243;0.451;0.451	B;B;B	0.31869	0.055;0.137;0.137	T	0.34875	-0.9811	10	0.72032	D	0.01	.	14.938	0.70973	1.0:0.0:0.0:0.0	.	260;388;388	B4DUT0;B2R9R6;Q9NZS9	.;.;BFAR_HUMAN	A	388;260	ENSP00000261658:T388A;ENSP00000400634:T260A	ENSP00000261658:T388A	T	+	1	0	BFAR	14668994	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.882000	0.69714	2.121000	0.65114	0.460000	0.39030	ACC		0.557	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561	Missense_Mutation	28	65	0	0	0	1	0	28	65					G	14761493	A	G	14761493	5	3	48	1	0	0	0	0	0	0	1	0	1414	289	10	4	1188	4	BFAR	16	14761493	Splice_Site	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	732085	14761493	75593260	3555	8023										
KIAA0430	9665	broad.mit.edu	37	chr16	15710987	15710987	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtcttcaaagaaagaatcAcaaaaggaatcttgtaagag	8	5	4	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:15710987A>G	ENST00000396368.3	-	15	3205	c.2999T>C	c.(2998-3000)gTg>gCg	p.V1000A	KIAA0430_ENST00000540441.2_Missense_Mutation_p.V835A|KIAA0430_ENST00000548025.1_Missense_Mutation_p.V997A|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000602337.1_Missense_Mutation_p.V997A|KIAA0430_ENST00000551742.1_Missense_Mutation_p.V1000A	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1000					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						AGAAAGAATCACAAAAGGAAT	0.453																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(2998-3000)gTg>gCg		KIAA0430							106	103	104					16																	15710987		1874	4107	5981	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15710987A>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.2999T>C	16.37:g.15710987A>G	ENSP00000379654:p.Val1000Ala		Somatic				KIAA0430_ENST00000540441.2_Missense_Mutation_p.V835A|KIAA0430_ENST00000551742.1_Missense_Mutation_p.V1000A|KIAA0430_ENST00000548025.1_Missense_Mutation_p.V997A|KIAA0430_ENST00000602337.1_Missense_Mutation_p.V997A|KIAA0430_ENST00000344181.3_Intron	p.V1000A	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			15	3205	-			999					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.2999T>C	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113472	0.56398	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000548025;ENST00000551742	.	.	.	5.47	5.47	0.80525	.	0.065488	0.64402	D	0.000009	T	0.49029	0.1533	L	0.42245	1.32	0.80722	D	1	B;B;B;B	0.20671	0.016;0.047;0.047;0.009	B;B;B;B	0.19391	0.016;0.025;0.025;0.007	T	0.48958	-0.8988	9	0.54805	T	0.06	.	10.2284	0.43241	0.9228:0.0:0.0772:0.0	.	999;997;996;999	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	A	1000;835;999;997;1000	.	ENSP00000315718:V999A	V	-	2	0	KIAA0430	15618488	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.573000	0.74009	2.077000	0.62373	0.459000	0.35465	GTG		0.453	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		12	69	0	0	0	1	0	12	69					G	15710987	A	G	15710987	3	3	48	1	0	0	0	0	1	0	0	0	8186	159	6	4	2281	4	KIAA0430	16	15710987	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	949494	15710987	74643766	3556	8024										
MYH11	4629	broad.mit.edu	37	chr16	15833968	15833968	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcatcctccagtttcttgatCttggcctcagccgtgacctt	7	14	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:15833968C>A	ENST00000300036.5	-	23	3046	c.2937G>T	c.(2935-2937)aaG>aaT	p.K979N	MYH11_ENST00000576790.2_Missense_Mutation_p.K979N|MYH11_ENST00000396324.3_Missense_Mutation_p.K986N|MYH11_ENST00000452625.2_Missense_Mutation_p.K986N|AF001548.6_ENST00000577048.1_RNA	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	979					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.K979N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GTTTCTTGATCTTGGCCTCAG	0.507			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		1	Substitution - Missense(1)	p.K979N(1)	large_intestine(1)	NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(2935-2937)aaG>aaT		myosin, heavy chain 11, smooth muscle							164	144	151					16																	15833968		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.chr16:15833968C>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2937G>T	16.37:g.15833968C>A	ENSP00000300036:p.Lys979Asn		Somatic				MYH11_ENST00000300036.5_Missense_Mutation_p.K979N|MYH11_ENST00000396324.3_Missense_Mutation_p.K986N|MYH11_ENST00000576790.1_Missense_Mutation_p.K979N|MYH11_ENST00000452625.2_Missense_Mutation_p.K986N	p.K979N	NM_022844.2	NP_074035.1	WXS	Illumina GAIIx	Phase_I	P35749	MYH11_HUMAN			23	3043	-			979					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2937G>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.708064	0.68615	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45	4.28	2.27	0.28462	.	0.247105	0.39475	N	0.001359	D	0.96131	0.8739	M	0.78285	2.405	0.58432	D	0.999997	D;D;D;D;D	0.69078	0.997;0.991;0.991;0.991;0.991	D;P;P;P;D	0.67382	0.951;0.881;0.881;0.881;0.938	D	0.95350	0.8446	10	0.87932	D	0	.	9.6071	0.39641	0.0:0.8231:0.0:0.1769	.	986;979;986;979;986	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	N	979;979;986;986;986	ENSP00000300036:K979N;ENSP00000345136:K979N;ENSP00000379616:K986N;ENSP00000407821:K986N	ENSP00000300036:K979N	K	-	3	2	MYH11	15741469	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.060000	0.41394	0.802000	0.34089	0.486000	0.48141	AAG		0.507	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		37	75	1	0	9.85521e-28	1	1.39762e-27	37	75					A	15833968	C	A	15833968	3	1	48	1	0	0	0	0	1	0	0	0	10040	912	32	2	3092	2	MYH11	16	15833968	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	122981	15833968	74520785	3557	8025										
ABCC1	4363	broad.mit.edu	37	chr16	16108405	16108405	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agggagttcagtcttcagggAtcatgctcactttctggctg	12	9	6	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:16108405A>G	ENST00000399410.3	+	4	584	c.409A>G	c.(409-411)Atc>Gtc	p.I137V	ABCC1_ENST00000345148.5_Missense_Mutation_p.I137V|ABCC1_ENST00000346370.5_Missense_Mutation_p.I137V|ABCC1_ENST00000349029.5_Missense_Mutation_p.I137V|ABCC1_ENST00000399408.2_Missense_Mutation_p.I137V|ABCC1_ENST00000351154.5_Missense_Mutation_p.I137V	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	137					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GTCTTCAGGGATCATGCTCAC	0.473																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(409-411)Atc>Gtc		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						139	136	137					16																	16108405		1985	4175	6160	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16108405A>G	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.409A>G	16.37:g.16108405A>G	ENSP00000382342:p.Ile137Val		Somatic				ABCC1_ENST00000346370.5_Missense_Mutation_p.I137V|ABCC1_ENST00000399410.3_Missense_Mutation_p.I137V|ABCC1_ENST00000351154.5_Missense_Mutation_p.I137V|ABCC1_ENST00000349029.5_Missense_Mutation_p.I137V|ABCC1_ENST00000345148.5_Missense_Mutation_p.I137V	p.I137V			WXS	Illumina GAIIx	Phase_I	P33527	MRP1_HUMAN			4	584	+			137					A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.409A>G	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	A	1.908	-0.451374	0.04572	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029	T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33	5.43	3.1	0.35709	.	0.314743	0.33834	N	0.004512	T	0.09730	0.0239	N	0.01535	-0.81	0.29926	N	0.822322	B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.12837	0.003;0.003;0.008;0.003;0.002;0.005	T	0.32241	-0.9914	10	0.02654	T	1	-25.2393	4.6116	0.12406	0.5715:0.0:0.4285:0.0	.	137;137;137;137;137;137	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	V	137	ENSP00000382342:I137V;ENSP00000382340:I137V;ENSP00000263019:I137V;ENSP00000263017:I137V;ENSP00000263014:I137V;ENSP00000263016:I137V	ENSP00000263014:I137V	I	+	1	0	ABCC1	16015906	0.085000	0.21516	0.999000	0.59377	0.914000	0.54420	0.380000	0.20602	0.886000	0.36113	-0.304000	0.09214	ATC		0.473	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		15	35	0	0	0	1	0	15	35					G	16108405	A	G	16108405	3	3	48	1	0	0	0	0	1	0	0	0	49	333	12	4	423	4	ABCC1	16	16108405	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	274437	16108405	74246348	3558	8026										
XYLT1	64131	broad.mit.edu	37	chr16	17202841	17202841	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgctccatgtaggcattgCggaggggcccattgtgcagc	14	11	1	0	rs531190343		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:17202841C>T	ENST00000261381.6	-	12	2675	c.2591G>A	c.(2590-2592)cGc>cAc	p.R864H		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	864					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						GTAGGCATTGCGGAGGGGCCC	0.567													C|||	1	0.000199681	0	0	5008	,	,		18573	0		0	False		,,,				2504	0.001					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.(2590-2592)cGc>cAc		xylosyltransferase I							82	84	84					16																	17202841		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.chr16:17202841C>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.2591G>A	16.37:g.17202841C>T	ENSP00000261381:p.Arg864His		Somatic					p.R864H	NM_022166.3	NP_071449.1	WXS	Illumina GAIIx	Phase_I	Q86Y38	XYLT1_HUMAN			12	2675	-			864					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.2591G>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	8.874	0.950099	0.18431	.	.	ENSG00000103489	ENST00000261381	T	0.04603	3.59	5.81	3.78	0.43462	.	0.092458	0.64402	N	0.000002	T	0.09158	0.0226	L	0.47716	1.5	0.36623	D	0.875855	D	0.71674	0.998	P	0.57152	0.814	T	0.36939	-0.9727	10	0.25751	T	0.34	-25.6032	7.4505	0.27235	0.0:0.6458:0.0:0.3542	.	864	Q86Y38	XYLT1_HUMAN	H	864	ENSP00000261381:R864H	ENSP00000261381:R864H	R	-	2	0	XYLT1	17110342	1.000000	0.71417	0.952000	0.39060	0.069000	0.16628	2.600000	0.46240	1.361000	0.45981	0.655000	0.94253	CGC		0.567	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		20	42	0	0	0	1	0	20	42					T	17202841	C	T	17202841	3	4	48	1	0	0	0	0	1	0	0	0	17478	768	27	1	292	1	XYLT1	16	17202841	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1094436	17202841	73151912	3559	8027										
XYLT1	64131	broad.mit.edu	37	chr16	17353254	17353254	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcttttgagtcctgggtgcGaagttgctgttgtcgacatt	13	7	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:17353254G>A	ENST00000261381.6	-	3	588	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	168					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						TCCTGGGTGCGAAGTTGCTGT	0.498																																						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.(502-504)ttC>ttT		xylosyltransferase I							132	123	126					16																	17353254		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17353254G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.504C>T	16.37:g.17353254G>A			Somatic					p.F168F	NM_022166.3	NP_071449.1	WXS	Illumina GAIIx	Phase_I	Q86Y38	XYLT1_HUMAN			3	588	-			168					Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.504C>T	CCDS10569.1																																																																																				0.498	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		45	69	0	0	0	1	0	45	69					A	17353254	G	A	17353254	2	1	48	1	0	0	0	0	0	0	0	1	17478	1049	37	1		1	XYLT1	16	17353254	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	150413	17353254	73001499	3560	8028										
SMG1	23049	broad.mit.edu	37	chr16	18823418	18823418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctgtgacatgacatcaggCtgagtcttctggccagtgtt	11	9	4	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:18823418C>T	ENST00000446231.2	-	61	11065	c.10653G>A	c.(10651-10653)caG>caA	p.Q3551Q	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Silent_p.Q3552Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3551					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						TGACATCAGGCTGAGTCTTCT	0.483																																						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.(10651-10653)caG>caA		SMG1 phosphatidylinositol 3-kinase-related kinase							108	99	102					16																	18823418		1966	4164	6130	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.chr16:18823418C>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.10653G>A	16.37:g.18823418C>T			Somatic				RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Silent_p.Q3552Q	p.Q3551Q			WXS	Illumina GAIIx	Phase_I	Q96Q15	SMG1_HUMAN			61	11065	-			3551					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.10653G>A	CCDS45430.1																																																																																				0.483	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		16	39	0	0	0	1	0	16	39					T	18823418	C	T	18823418	2	4	48	1	0	0	0	0	0	0	0	1	14810	796	28	3		3	SMG1	16	18823418	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1470164	18823418	71531335	3561	8029										
CP110	9738	broad.mit.edu	37	chr16	19547870	19547870	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagttattcctgacaaaccAagccttaataaatcaaatgt	4	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:19547870A>G	ENST00000381396.5	+	4	1126	c.879A>G	c.(877-879)ccA>ccG	p.P293P	CCP110_ENST00000396212.2_Silent_p.P293P|CCP110_ENST00000396208.2_Silent_p.P293P	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	293					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CTGACAAACCAAGCCTTAATA	0.413																																						ENST00000396212.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						c.(877-879)ccA>ccG		centriolar coiled coil protein 110kDa							76	74	75					16																	19547870		2197	4300	6497	SO:0001819	synonymous_variant	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19547870A>G	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.879A>G	16.37:g.19547870A>G			Somatic				CCP110_ENST00000396208.2_Silent_p.P293P|CCP110_ENST00000381396.5_Silent_p.P293P	p.P293P	NM_014711.4	NP_055526.3	WXS	Illumina GAIIx	Phase_I	O43303	CP110_HUMAN			5	1315	+			293					B7WP23|O43335|Q68DV9|Q8NE13	Silent	SNP	ENST00000381396.5	37	c.879A>G	CCDS55992.1																																																																																				0.413	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		7	61	0	0	0	1	0	7	61					G	19547870	A	G	19547870	2	3	48	1	0	0	0	0	0	0	0	1	3790	117	5	4		4	CP110	16	19547870	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	724452	19547870	70806883	3562	8030										
C16orf62	57020	broad.mit.edu	37	chr16	19656250	19656250	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaagaatgctgtcatatttGattaatggatttataaaaat	6	2	1	2	rs182792252		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:19656250G>T	ENST00000251143.5	+	23	1920	c.1908G>T	c.(1906-1908)ttG>ttT	p.L636F	C16orf62_ENST00000448695.1_Missense_Mutation_p.L486F|C16orf62_ENST00000543152.1_Missense_Mutation_p.L385F|C16orf62_ENST00000542263.1_Missense_Mutation_p.L658F|C16orf62_ENST00000417362.2_Missense_Mutation_p.L569F|C16orf62_ENST00000438132.3_Missense_Mutation_p.L725F			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	636						integral component of membrane (GO:0016021)		p.L636F(1)|p.L725F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGTCATATTTGATTAATGGAT	0.318													G|||	1	0.000199681	0	0	5008	,	,		16383	0		0.001	False		,,,				2504	0					ENST00000438132.3																			2	Substitution - Missense(2)	p.L636F(1)|p.L725F(1)	breast(2)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(2173-2175)ttG>ttT		chromosome 16 open reading frame 62							96	101	99					16																	19656250		2196	4300	6496	SO:0001583	missense	57020					integral to membrane		g.chr16:19656250G>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1908G>T	16.37:g.19656250G>T	ENSP00000251143:p.Leu636Phe		Somatic				C16orf62_ENST00000251143.5_Missense_Mutation_p.L636F|C16orf62_ENST00000448695.1_Missense_Mutation_p.L486F|C16orf62_ENST00000542263.1_Missense_Mutation_p.L658F|C16orf62_ENST00000417362.2_Missense_Mutation_p.L569F|C16orf62_ENST00000543152.1_Missense_Mutation_p.L385F	p.L725F	NM_020314.5	NP_064710.4	WXS	Illumina GAIIx	Phase_I	Q7Z3J2	CP062_HUMAN			23	2223	+			636					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37	c.2175G>T		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.36	3.606505	0.66445	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.9	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.75250	0.3824	M	0.85945	2.785	0.80722	D	1	P;D	0.89917	0.518;1.0	B;D	0.85130	0.302;0.997	T	0.76948	-0.2770	9	.	.	.	-19.3839	10.5697	0.45194	0.083:0.1406:0.7764:0.0	.	658;636	F5H7K1;Q7Z3J2	.;CP062_HUMAN	F	725;658;636;569;486	ENSP00000400815:L725F;ENSP00000442468:L658F;ENSP00000251143:L636F;ENSP00000395973:L569F;ENSP00000398009:L486F	.	L	+	3	2	C16orf62	19563751	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.744000	0.47450	2.806000	0.96561	0.655000	0.94253	TTG		0.318	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		16	30	1	0	3.35478e-16	1	4.45534e-16	16	30					T	19656250	G	T	19656250	3	4	48	1	0	0	0	0	1	0	0	0	1827	1281	45	2	1998	2	C16orf62	16	19656250	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	108380	19656250	70698503	3563	8031										
C16orf62	57020	broad.mit.edu	37	chr16	19702791	19702791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaaaaccctggccaaggacGaggtgggtgccctctgctgt	14	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:19702791G>A	ENST00000251143.5	+	29	2656	c.2644G>A	c.(2644-2646)Gag>Aag	p.E882K	C16orf62_ENST00000448695.1_Missense_Mutation_p.E732K|C16orf62_ENST00000543152.1_Missense_Mutation_p.E631K|C16orf62_ENST00000542263.1_Missense_Mutation_p.E878K|C16orf62_ENST00000417362.2_Missense_Mutation_p.E789K|C16orf62_ENST00000438132.3_Missense_Mutation_p.E971K			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	882						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGCCAAGGACGAGGTGGGTGC	0.537																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(2911-2913)Gag>Aag		chromosome 16 open reading frame 62							102	78	86					16																	19702791		2197	4300	6497	SO:0001583	missense	57020					integral to membrane		g.chr16:19702791G>A		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2644G>A	16.37:g.19702791G>A	ENSP00000251143:p.Glu882Lys		Somatic				C16orf62_ENST00000251143.5_Missense_Mutation_p.E882K|C16orf62_ENST00000448695.1_Missense_Mutation_p.E732K|C16orf62_ENST00000542263.1_Missense_Mutation_p.E878K|C16orf62_ENST00000417362.2_Missense_Mutation_p.E789K|C16orf62_ENST00000543152.1_Missense_Mutation_p.E631K	p.E971K	NM_020314.5	NP_064710.4	WXS	Illumina GAIIx	Phase_I	Q7Z3J2	CP062_HUMAN			29	2959	+			882					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37	c.2911G>A		.	.	.	.	.	.	.	.	.	.	G	16.58	3.164012	0.57476	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.49881	0.1583	L	0.33485	1.01	0.51767	D	0.999939	D;B	0.65815	0.995;0.104	D;B	0.70716	0.97;0.017	T	0.40534	-0.9558	9	.	.	.	-25.5346	11.85	0.52405	0.0809:0.0:0.9191:0.0	.	878;882	F5H7K1;Q7Z3J2	.;CP062_HUMAN	K	971;878;882;789;732	ENSP00000400815:E971K;ENSP00000442468:E878K;ENSP00000251143:E882K;ENSP00000395973:E789K;ENSP00000398009:E732K	.	E	+	1	0	C16orf62	19610292	1.000000	0.71417	0.992000	0.48379	0.783000	0.44284	8.061000	0.89467	2.365000	0.80145	0.491000	0.48974	GAG		0.537	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		9	15	0	0	0	1	0	9	15					A	19702791	G	A	19702791	3	1	48	1	0	0	0	0	1	0	0	0	1827	1059	37	1	2758	1	C16orf62	16	19702791	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	46541	19702791	70651962	3564	8032										
GPR139	124274	broad.mit.edu	37	chr16	20043162	20043162	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggggctacttgttatggaAaagttatgattggtgtagaa	13	3	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20043162A>G	ENST00000570682.1	-	2	1257	c.957T>C	c.(955-957)ttT>ttC	p.F319F		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	319					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						TTGTTATGGAAAAGTTATGAT	0.483																																						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.(955-957)ttT>ttC		G protein-coupled receptor 139							162	153	156					16																	20043162		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043162A>G	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.957T>C	16.37:g.20043162A>G			Somatic					p.F319F	NM_001002911.2	NP_001002911.1	WXS	Illumina GAIIx	Phase_I	Q6DWJ6	GP139_HUMAN			2	1257	-			319					A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.957T>C	CCDS32398.1																																																																																				0.483	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		55	87	0	0	0	1	0	55	87					G	20043162	A	G	20043162	2	3	48	1	0	0	0	0	0	0	0	1	6656	11	1	4		4	GPR139	16	20043162	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	340371	20043162	70311591	3565	8033										
ACSM2A	123876	broad.mit.edu	37	chr16	20491925	20491925	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaagacagcagccaacattCgaggagacttttggctcctt	9	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20491925C>T	ENST00000573854.1	+	11	1426	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000417235.2_Nonsense_Mutation_p.R359*|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Nonsense_Mutation_p.R210*|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.R438*	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	438					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGCCAACATTCGAGGAGACTT	0.512																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1312-1314)Cga>Tga		acyl-CoA synthetase medium-chain family member 2A							116	93	101					16																	20491925		2203	4298	6501	SO:0001587	stop_gained	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20491925C>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1312C>T	16.37:g.20491925C>T	ENSP00000459451:p.Arg438*		Somatic				ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000536134.1_Nonsense_Mutation_p.R210*|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Nonsense_Mutation_p.R359*	p.R438*	NM_001010845.2	NP_001010845.1	WXS	Illumina GAIIx	Phase_I	Q08AH3	ACS2A_HUMAN			11	1426	+			438					B3KTT9|O75202	Nonsense_Mutation	SNP	ENST00000573854.1	37	c.1312C>T	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	C	39	7.630041	0.98399	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	.	.	.	3.22	2.21	0.28008	.	0.490322	0.14929	N	0.290162	.	.	.	.	.	.	0.32100	N	0.590723	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3051	6.6302	0.22853	0.1786:0.7175:0.0:0.1039	.	.	.	.	X	359;438;210;438	.	ENSP00000219054:R438X	R	+	1	2	ACSM2A	20399426	0.004000	0.15560	0.806000	0.32338	0.843000	0.47879	0.146000	0.16180	0.422000	0.26005	0.298000	0.19748	CGA		0.512	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		54	90	0	0	0	1	0	54	90					T	20491925	C	T	20491925	4	4	48	1	0	0	0	0	0	1	0	0	183	876	31	1	1350	1	ACSM2A	16	20491925	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	448763	20491925	69862828	3566	8034										
ACSM2A	123876	broad.mit.edu	37	chr16	20497922	20497922	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttgtcttgaacctgcccaaGactgtcacagggaaaattca	8	10	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20497922G>T	ENST00000573854.1	+	14	1770	c.1656G>T	c.(1654-1656)aaG>aaT	p.K552N	ACSM2A_ENST00000219054.6_Missense_Mutation_p.K552N|ACSM2A_ENST00000417235.2_Missense_Mutation_p.K473N|AC137056.1_ENST00000593357.1_5'Flank|ACSM2A_ENST00000536134.1_Missense_Mutation_p.K324N|ACSM2A_ENST00000396104.2_Missense_Mutation_p.K552N|ACSM2A_ENST00000575690.1_Missense_Mutation_p.K552N	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	552					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ACCTGCCCAAGACTGTCACAG	0.468																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1654-1656)aaG>aaT		acyl-CoA synthetase medium-chain family member 2A							168	164	166					16																	20497922		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20497922G>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1656G>T	16.37:g.20497922G>T	ENSP00000459451:p.Lys552Asn		Somatic				ACSM2A_ENST00000219054.6_Missense_Mutation_p.K552N|ACSM2A_ENST00000396104.2_Missense_Mutation_p.K552N|ACSM2A_ENST00000575690.1_Missense_Mutation_p.K552N|ACSM2A_ENST00000536134.1_Missense_Mutation_p.K324N|ACSM2A_ENST00000417235.2_Missense_Mutation_p.K473N	p.K552N	NM_001010845.2	NP_001010845.1	WXS	Illumina GAIIx	Phase_I	Q08AH3	ACS2A_HUMAN			14	1770	+			552					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1656G>T	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307761	0.40795	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	3.74	1.69	0.24217	.	0.000000	0.45867	D	0.000321	T	0.76399	0.3982	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75088	-0.3441	10	0.87932	D	0	-18.7726	8.0822	0.30752	0.2007:0.0:0.7993:0.0	.	552	Q08AH3	ACS2A_HUMAN	N	473;552;324;552	ENSP00000392169:K473N;ENSP00000219054:K552N;ENSP00000445082:K324N;ENSP00000379411:K552N	ENSP00000219054:K552N	K	+	3	2	ACSM2A	20405423	0.996000	0.38824	0.798000	0.32154	0.192000	0.23643	0.160000	0.16462	0.251000	0.21505	0.306000	0.20318	AAG		0.468	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		18	159	1	0	8.34094e-07	1	9.42356e-07	18	159					T	20497922	G	T	20497922	3	4	48	1	0	0	0	0	1	0	0	0	183	933	33	2	1706	2	ACSM2A	16	20497922	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5997	20497922	69856831	3567	8035										
ACSM2B	348158	broad.mit.edu	37	chr16	20554554	20554554	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggagccaaaagtctcctcGaatgttggctgctgtcttgt	11	9	2	0	rs375700760		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20554554G>A	ENST00000329697.6	-	11	1480	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R438*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R438*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.R359*|ACSM2B_ENST00000567288.1_5'Flank	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	438					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						AAGTCTCCTCGAATGTTGGCT	0.512																																						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.(1312-1314)Cga>Tga		acyl-CoA synthetase medium-chain family member 2B		G	stop/ARG,stop/ARG	0,4400		0,0,2200	106	146	133		1312,1312	2.3	0.9	16		133	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained,stop-gained	ACSM2B	NM_001105069.1,NM_182617.3	,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	,	438/578,438/578	20554554	1,12997	2200	4299	6499	SO:0001587	stop_gained	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20554554G>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.1312C>T	16.37:g.20554554G>A	ENSP00000327453:p.Arg438*		Somatic				ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.R359*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R438*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R438*	p.R438*	NM_001105069.1	NP_001098539.1	WXS	Illumina GAIIx	Phase_I	Q68CK6	ACS2B_HUMAN			11	1480	-			438					Q86YT1	Nonsense_Mutation	SNP	ENST00000329697.6	37	c.1312C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455561	0.26161	0.0	1.16E-4	ENSG00000066813	ENST00000329697	.	.	.	3.26	2.26	0.28386	.	0.490322	0.14929	N	0.290162	.	.	.	.	.	.	0.54753	D	0.999985	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3051	6.7535	0.23499	0.1013:0.0:0.7203:0.1785	.	.	.	.	X	438	.	ENSP00000327453:R438X	R	-	1	2	ACSM2B	20462055	0.014000	0.17966	0.936000	0.37596	0.167000	0.22549	0.208000	0.17415	0.667000	0.31107	0.609000	0.83330	CGA		0.512	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		8	179	0	0	0	1	0	8	179					A	20554554	G	A	20554554	4	1	48	1	0	0	0	0	0	1	0	0	184	1066	37	1	437	1	ACSM2B	16	20554554	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	56632	20554554	69800199	3568	8036										
ACSM1	116285	broad.mit.edu	37	chr16	20682930	20682930	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagcctgtggtcccactggtGaagaagatgaccattgggtc	13	9	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20682930G>A	ENST00000307493.4	-	4	742	c.675C>T	c.(673-675)ttC>ttT	p.F225F	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.F225F	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	225					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						TCCCACTGGTGAAGAAGATGA	0.502																																						ENST00000307493.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(673-675)ttC>ttT		acyl-CoA synthetase medium-chain family member 1							130	107	115					16																	20682930		2201	4300	6501	SO:0001819	synonymous_variant	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.chr16:20682930G>A	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.675C>T	16.37:g.20682930G>A			Somatic				ACSM1_ENST00000520010.1_Silent_p.F225F|ACSM1_ENST00000219151.4_5'UTR	p.F225F	NM_052956.2	NP_443188.2	WXS	Illumina GAIIx	Phase_I	Q08AH1	ACSM1_HUMAN			4	742	-			225					Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	c.675C>T	CCDS10587.1																																																																																				0.502	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		21	56	0	0	0	1	0	21	56					A	20682930	G	A	20682930	2	1	48	1	0	0	0	0	0	0	0	1	182	1281	45	3		3	ACSM1	16	20682930	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	128376	20682930	69671823	3569	8037										
DNAH3	55567	broad.mit.edu	37	chr16	20944541	20944541	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgcttctggggcatgtctgTtggaagctcaatggagagga	16	6	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20944541T>C	ENST00000261383.3	-	62	12285	c.12286A>G	c.(12286-12288)Aca>Gca	p.T4096A	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4096					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)		GGCATGTCTGTTGGAAGCTCA	0.498																																						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.(12286-12288)Aca>Gca		dynein, axonemal, heavy chain 3							152	155	154					16																	20944541		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.chr16:20944541T>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.12286A>G	16.37:g.20944541T>C	ENSP00000261383:p.Thr4096Ala		Somatic				DNAH3_ENST00000415178.1_3'UTR	p.T4096A	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	62	12285	-			4096					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.12286A>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.054167	0.55218	.	.	ENSG00000158486	ENST00000261383	T	0.61742	0.08	5.25	5.25	0.73442	Dynein heavy chain (1);	0.074045	0.53938	D	0.000054	T	0.66086	0.2754	M	0.83953	2.67	0.80722	D	1	P	0.44309	0.832	P	0.48368	0.575	T	0.70821	-0.4768	10	0.59425	D	0.04	.	8.9664	0.35879	0.2857:0.0:0.0:0.7143	.	4096	Q8TD57	DYH3_HUMAN	A	4096	ENSP00000261383:T4096A	ENSP00000261383:T4096A	T	-	1	0	DNAH3	20852042	0.945000	0.32115	0.718000	0.30602	0.988000	0.76386	1.795000	0.38784	1.992000	0.58205	0.533000	0.62120	ACA		0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		45	85	0	0	0	1	0	45	85					C	20944541	T	C	20944541	3	2	48	1	0	0	0	0	1	0	0	0	4605	1725	60	4	67	4	DNAH3	16	20944541	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	261611	20944541	69410212	3570	8038										
DNAH3	55567	broad.mit.edu	37	chr16	20944632	20944632	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttttgtagactggacacacAtagatgtcctgatgcagaaa	10	7	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20944632A>C	ENST00000261383.3	-	62	12194	c.12195T>G	c.(12193-12195)taT>taG	p.Y4065*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4065					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)		CTGGACACACATAGATGTCCT	0.512																																						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.(12193-12195)taT>taG		dynein, axonemal, heavy chain 3							169	166	167					16																	20944632		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.chr16:20944632A>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.12195T>G	16.37:g.20944632A>C	ENSP00000261383:p.Tyr4065*		Somatic				DNAH3_ENST00000415178.1_3'UTR	p.Y4065*	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	62	12194	-			4065					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	c.12195T>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	49	15.656967	0.99841	.	.	ENSG00000158486	ENST00000261383	.	.	.	5.37	-8.26	0.01021	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5631	0.91108	0.3898:0.0:0.6102:0.0	.	.	.	.	X	4065	.	ENSP00000261383:Y4065X	Y	-	3	2	DNAH3	20852133	0.000000	0.05858	0.091000	0.20842	0.161000	0.22273	-0.842000	0.04354	-1.891000	0.01109	-0.912000	0.02778	TAT		0.512	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		12	123	0	0	0	1	0	12	123					C	20944632	A	C	20944632	4	2	48	1	0	0	0	0	0	1	0	0	4605	224	8	4	158	4	DNAH3	16	20944632	Nonsense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	91	20944632	69410121	3571	8039										
DNAH3	55567	broad.mit.edu	37	chr16	21011661	21011661	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgaggttctggcagagaaAttgatgcagttgggtaggta	16	4	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:21011661A>T	ENST00000261383.3	-	43	6305	c.6306T>A	c.(6304-6306)aaT>aaA	p.N2102K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2102	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)|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)		TGGCAGAGAAATTGATGCAGT	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.(6304-6306)aaT>aaA		dynein, axonemal, heavy chain 3							182	143	157					16																	21011661		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.chr16:21011661A>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.6306T>A	16.37:g.21011661A>T	ENSP00000261383:p.Asn2102Lys		Somatic				DNAH3_ENST00000415178.1_3'UTR	p.N2102K	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	43	6305	-			2102			AAA 3 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.6306T>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.407964	0.62399	.	.	ENSG00000158486	ENST00000261383	T	0.34859	1.34	5.82	-1.3	0.09259	ATPase, AAA+ type, core (1);	0.057545	0.64402	D	0.000002	T	0.65790	0.2725	H	0.95884	3.735	0.80722	D	1	D	0.71674	0.998	D	0.68765	0.96	T	0.73538	-0.3951	10	0.72032	D	0.01	.	11.705	0.51592	0.4179:0.0:0.5821:0.0	.	2102	Q8TD57	DYH3_HUMAN	K	2102	ENSP00000261383:N2102K	ENSP00000261383:N2102K	N	-	3	2	DNAH3	20919162	1.000000	0.71417	0.997000	0.53966	0.456000	0.32438	1.970000	0.40520	-0.164000	0.10927	-0.376000	0.06991	AAT		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		27	51	0	0	0	1	0	27	51					T	21011661	A	T	21011661	3	4	48	1	0	0	0	0	1	0	0	0	4605	98	4	4	6123	4	DNAH3	16	21011661	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	67029	21011661	69343092	3572	8040										
DNAH3	55567	broad.mit.edu	37	chr16	21145624	21145624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgagcatcatggggttcacCgtgtgcagatgctcctcgtt	12	11	2	2	rs138812210		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:21145624C>T	ENST00000261383.3	-	7	1037	c.1038G>A	c.(1036-1038)acG>acA	p.T346T	DNAH3_ENST00000415178.1_Silent_p.T346T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	346	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)		TGGGGTTCACCGTGTGCAGAT	0.527																																						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.(1036-1038)acG>acA		dynein, axonemal, heavy chain 3		C		0,4402		0,0,2201	111	103	106		1038	-11.4	0.2	16	dbSNP_134	106	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	DNAH3	NM_017539.1		0,2,6499	TT,TC,CC		0.0233,0.0,0.0154		346/4117	21145624	2,13000	2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21145624C>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.1038G>A	16.37:g.21145624C>T			Somatic				DNAH3_ENST00000415178.1_Silent_p.T346T	p.T346T	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	7	1037	-			346			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.1038G>A	CCDS10594.1																																																																																				0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		45	86	0	0	0	1	0	45	86					T	21145624	C	T	21145624	2	4	48	1	0	0	0	0	0	0	0	1	4605	639	23	1		1	DNAH3	16	21145624	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	133963	21145624	69209129	3573	8041										
DNAH3	55567	broad.mit.edu	37	chr16	21157311	21157311	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaggtgtgcatacctgataGagtccagacggttcctcatt	10	11	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:21157311G>T	ENST00000261383.3	-	2	215	c.216C>A	c.(214-216)ctC>ctA	p.L72L	DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Silent_p.L72L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	72	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)		ATACCTGATAGAGTCCAGACG	0.552																																						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.(214-216)ctC>ctA		dynein, axonemal, heavy chain 3							89	79	82					16																	21157311		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21157311G>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.216C>A	16.37:g.21157311G>T			Somatic				DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Silent_p.L72L	p.L72L	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	2	215	-			72			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.216C>A	CCDS10594.1																																																																																				0.552	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		10	55	1	0	1.58986e-06	1	1.78832e-06	10	55					T	21157311	G	T	21157311	2	4	48	1	0	0	0	0	0	0	0	1	4605	929	33	2		2	DNAH3	16	21157311	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	11687	21157311	69197442	3574	8042										
ZP2	7783	broad.mit.edu	37	chr16	21218215	21218215	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagcccctgggtctcttctaCttgcatagctggacagaaga	10	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:21218215C>A	ENST00000574002.1	-	6	909	c.427G>T	c.(427-429)Gta>Tta	p.V143L	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.V143L|ZP2_ENST00000574091.1_Missense_Mutation_p.V143L			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	143					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTCTCTTCTACTTGCATAGCT	0.498																																						ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(427-429)Gta>Tta		zona pellucida glycoprotein 2 (sperm receptor)							198	178	185					16																	21218215		2199	4300	6499	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21218215C>A	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.427G>T	16.37:g.21218215C>A	ENSP00000460971:p.Val143Leu		Somatic				ZP2_ENST00000219593.4_Missense_Mutation_p.V143L|ZP2_ENST00000574091.1_Missense_Mutation_p.V143L	p.V143L			WXS	Illumina GAIIx	Phase_I	Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	6	909	-			143					B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.427G>T	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825921	0.32237	.	.	ENSG00000103310	ENST00000219593	T	0.76316	-1.01	4.09	0.786	0.18590	.	0.780131	0.11418	N	0.566061	T	0.59636	0.2208	L	0.29908	0.895	0.09310	N	1	B;B;B	0.30146	0.27;0.105;0.105	B;B;B	0.20955	0.032;0.019;0.019	T	0.52094	-0.8621	10	0.72032	D	0.01	-0.5294	2.7089	0.05169	0.1873:0.5251:0.1819:0.1057	.	143;143;143	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	L	143	ENSP00000219593:V143L	ENSP00000219593:V143L	V	-	1	0	ZP2	21125716	0.000000	0.05858	0.021000	0.16686	0.903000	0.53119	0.245000	0.18142	0.094000	0.17404	0.591000	0.81541	GTA		0.498	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			36	82	1	0	2.09667e-21	1	2.89385e-21	36	82					A	21218215	C	A	21218215	3	1	48	1	0	0	0	0	1	0	0	0	18231	565	20	5	1870	5	ZP2	16	21218215	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	60904	21218215	69136538	3575	8043										
COG7	91949	broad.mit.edu	37	chr16	23415025	23415025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaaactcacgtccatcttcGaaataagcaacagctgttgt	7	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:23415025G>A	ENST00000307149.5	-	13	1978	c.1793C>T	c.(1792-1794)tCg>tTg	p.S598L		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	598					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)		GTCCATCTTCGAAATAAGCAA	0.537																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(1792-1794)tCg>tTg		component of oligomeric golgi complex 7							86	79	81					16																	23415025		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.chr16:23415025G>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1793C>T	16.37:g.23415025G>A	ENSP00000305442:p.Ser598Leu		Somatic					p.S598L	NM_153603.3	NP_705831.1	WXS	Illumina GAIIx	Phase_I	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	13	1978	-			598					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.1793C>T	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390423	0.42410	.	.	ENSG00000168434	ENST00000307149	T	0.45668	0.89	4.63	3.67	0.42095	.	0.355060	0.33650	N	0.004689	T	0.31327	0.0793	L	0.40543	1.245	0.45648	D	0.998578	P	0.35139	0.486	B	0.33042	0.157	T	0.05209	-1.0899	10	0.20519	T	0.43	-3.969	12.0525	0.53515	0.0839:0.0:0.9161:0.0	.	598	P83436	COG7_HUMAN	L	598	ENSP00000305442:S598L	ENSP00000305442:S598L	S	-	2	0	COG7	23322526	1.000000	0.71417	0.946000	0.38457	0.497000	0.33675	4.938000	0.63519	1.089000	0.41292	-0.142000	0.14014	TCG		0.537	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			23	37	0	0	0	1	0	23	37					A	23415025	G	A	23415025	3	1	48	1	0	0	0	0	1	0	0	0	3665	1059	37	1	539	1	COG7	16	23415025	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2196810	23415025	66939728	3576	8044										
UBFD1	56061	broad.mit.edu	37	chr16	23573949	23573949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctctcgtgccttcaggagCgcctgccaacggtaccgctg	11	15	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:23573949C>T	ENST00000395878.3	+	5	1015	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	UBFD1_ENST00000567212.1_Missense_Mutation_p.R203C|UBFD1_ENST00000219638.4_Missense_Mutation_p.R436C|UBFD1_ENST00000571064.1_3'UTR	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	212							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		CCTTCAGGAGCGCCTGCCAAC	0.517																																					Melanoma(22;290 1069 22358 48158)	ENST00000395878.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(634-636)Cgc>Tgc		ubiquitin family domain containing 1																																				SO:0001583	missense	56061							g.chr16:23573949C>T	AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"ubiquitin-binding protein homolog"					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.634C>T	16.37:g.23573949C>T	ENSP00000379217:p.Arg212Cys		Somatic				UBFD1_ENST00000567212.1_Missense_Mutation_p.R203C|UBFD1_ENST00000219638.4_Missense_Mutation_p.R436C|UBFD1_ENST00000571064.1_3'UTR	p.R212C	NM_019116.2	NP_061989.2	WXS	Illumina GAIIx	Phase_I	O14562	UBFD1_HUMAN		GBM - Glioblastoma multiforme(48;0.0331)	5	1015	+			212					A8MW58|D3DWF2	Missense_Mutation	SNP	ENST00000395878.3	37	c.634C>T	CCDS10613.2	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595243	0.66219	.	.	ENSG00000103353	ENST00000219638;ENST00000395878;ENST00000399462	.	.	.	5.78	5.78	0.91487	.	0.055871	0.64402	D	0.000001	T	0.42539	0.1207	L	0.36672	1.1	0.80722	D	1	D	0.61080	0.989	B	0.39299	0.296	T	0.48246	-0.9052	9	0.66056	D	0.02	-7.9567	13.9202	0.63926	0.1518:0.8482:0.0:0.0	.	212	O14562	UBFD1_HUMAN	C	436;212;89	.	ENSP00000219638:R436C	R	+	1	0	UBFD1	23481450	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	5.565000	0.67365	2.732000	0.93576	0.655000	0.94253	CGC		0.517	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250795.2	NM_019116		16	23	0	0	0	1	0	16	23					T	23573949	C	T	23573949	3	4	48	1	0	0	0	0	1	0	0	0	16899	768	27	1	652	1	UBFD1	16	23573949	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	158924	23573949	66780804	3577	8045										
DCTN5	84516	broad.mit.edu	37	chr16	23672543	23672543	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtctttattgaggaagatTgtgtggtcaacgcagcacag	12	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:23672543T>G	ENST00000300087.2	+	4	440	c.289T>G	c.(289-291)Tgt>Ggt	p.C97G	DCTN5_ENST00000563998.1_Missense_Mutation_p.C97G|DCTN5_ENST00000568589.1_Missense_Mutation_p.C97G	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	97					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)				endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		TGAGGAAGATTGTGTGGTCAA	0.413																																						ENST00000300087.2																			0				endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10						c.(289-291)Tgt>Ggt		dynactin 5 (p25)							348	258	288					16																	23672543		2197	4300	6497	SO:0001583	missense	84516					centrosome	transferase activity	g.chr16:23672543T>G		CCDS10615.1, CCDS58435.1, CCDS58436.1	16p12.1	2008-02-05			ENSG00000166847	ENSG00000166847			24594	protein-coding gene	gene with protein product		612962				10525537, 15043994	Standard	NM_032486		Approved	MGC3248, p25	uc002dly.2	Q9BTE1	OTTHUMG00000131610	ENST00000300087.2:c.289T>G	16.37:g.23672543T>G	ENSP00000300087:p.Cys97Gly		Somatic				DCTN5_ENST00000563998.1_Missense_Mutation_p.C97G|DCTN5_ENST00000568589.1_Missense_Mutation_p.C97G	p.C97G	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	WXS	Illumina GAIIx	Phase_I	Q9BTE1	DCTN5_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	4	440	+			97					A8K9X8|H3BN51|H3BQA4	Missense_Mutation	SNP	ENST00000300087.2	37	c.289T>G	CCDS10615.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.179004	0.57692	.	.	ENSG00000166847	ENST00000300087	.	.	.	5.78	5.78	0.91487	Trimeric LpxA-like (1);	0.000000	0.85682	D	0.000000	T	0.56673	0.2001	M	0.71206	2.165	0.80722	D	1	P	0.37423	0.594	B	0.33454	0.164	T	0.63120	-0.6708	9	0.66056	D	0.02	-8.5701	14.3442	0.66649	0.0:0.0:0.0:1.0	.	97	Q9BTE1	DCTN5_HUMAN	G	97	.	ENSP00000300087:C97G	C	+	1	0	DCTN5	23580044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.082000	0.76851	2.333000	0.79357	0.533000	0.62120	TGT		0.413	DCTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254497.1	NM_032486		11	35	0	0	0	1	0	11	35					G	23672543	T	G	23672543	3	3	48	1	0	0	0	0	1	0	0	0	4312	1812	63	4	303	4	DCTN5	16	23672543	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	98594	23672543	66682210	3578	8046										
PRKCB	5579	broad.mit.edu	37	chr16	23848713	23848713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggggcttcgggaagcaggGattccagtgccaaggtaggc	17	9	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:23848713G>A	ENST00000321728.7	+	2	366	c.191G>A	c.(190-192)gGa>gAa	p.G64E	PRKCB_ENST00000303531.7_Missense_Mutation_p.G64E|PRKCB_ENST00000498058.1_Intron	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	64					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)	GGGAAGCAGGGATTCCAGTGC	0.547																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(190-192)gGa>gAa		protein kinase C, beta	Vitamin E(DB00163)						111	121	118					16																	23848713		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.chr16:23848713G>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.191G>A	16.37:g.23848713G>A	ENSP00000318315:p.Gly64Glu		Somatic				PRKCB_ENST00000498058.1_Intron|PRKCB_ENST00000321728.7_Missense_Mutation_p.G64E	p.G64E	NM_002738.6	NP_002729.2	WXS	Illumina GAIIx	Phase_I	P05771	KPCB_HUMAN			2	343	+			64					C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.191G>A	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182762	0.94885	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.94650	-3.48;-3.48	4.88	4.88	0.63580	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.151725	0.42548	D	0.000697	D	0.98362	0.9456	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.99643	1.0989	10	0.87932	D	0	.	15.8778	0.79180	0.0:0.0:1.0:0.0	.	64;64	P05771-2;P05771	.;KPCB_HUMAN	E	64	ENSP00000318315:G64E;ENSP00000305355:G64E	ENSP00000305355:G64E	G	+	2	0	PRKCB	23756214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.019000	0.93662	2.395000	0.81488	0.655000	0.94253	GGA		0.547	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		59	113	0	0	0	1	0	59	113					A	23848713	G	A	23848713	3	1	48	1	0	0	0	0	1	0	0	0	12520	1174	41	3	197	3	PRKCB	16	23848713	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	176170	23848713	66506040	3579	8047										
CACNG3	10368	broad.mit.edu	37	chr16	24358084	24358084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaggcgtgtgcaagaaaatcGatcacttccctgaagatgct	11	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:24358084G>A	ENST00000005284.3	+	2	1443	c.241G>A	c.(241-243)Gat>Aat	p.D81N		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	81					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CAAGAAAATCGATCACTTCCC	0.582																																						ENST00000005284.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(241-243)Gat>Aat		calcium channel, voltage-dependent, gamma subunit 3							85	79	81					16																	24358084		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24358084G>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.241G>A	16.37:g.24358084G>A	ENSP00000005284:p.Asp81Asn		Somatic					p.D81N	NM_006539.3	NP_006530.1	WXS	Illumina GAIIx	Phase_I	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	2	1443	+			81						Missense_Mutation	SNP	ENST00000005284.3	37	c.241G>A	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637459	0.47049	.	.	ENSG00000006116	ENST00000005284	D	0.91686	-2.89	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.88358	0.6415	N	0.03983	-0.305	0.58432	D	0.999996	D	0.89917	1.0	D	0.77557	0.99	D	0.84022	0.0354	10	0.07644	T	0.81	-13.5267	13.904	0.63823	0.074:0.0:0.926:0.0	.	81	O60359	CCG3_HUMAN	N	81	ENSP00000005284:D81N	ENSP00000005284:D81N	D	+	1	0	CACNG3	24265585	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.569000	0.82380	2.808000	0.96608	0.655000	0.94253	GAT		0.582	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		29	39	0	0	0	1	0	29	39					A	24358084	G	A	24358084	3	1	48	1	0	0	0	0	1	0	0	0	2560	1058	37	1	247	1	CACNG3	16	24358084	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	509371	24358084	65996669	3580	8048										
RBBP6	5930	broad.mit.edu	37	chr16	24560270	24560270	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttattttgtgttttagaagtCgaactgaaccagcgatggca	10	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:24560270C>T	ENST00000319715.4	+	3	703	c.271C>T	c.(271-273)Cga>Tga	p.R91*	RBBP6_ENST00000452655.2_Nonsense_Mutation_p.R91*|RBBP6_ENST00000381039.3_Nonsense_Mutation_p.R91*|RBBP6_ENST00000348022.2_Nonsense_Mutation_p.R91*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	91					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTTTAGAAGTCGAACTGAACC	0.274																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(271-273)Cga>Tga		retinoblastoma binding protein 6							79	69	72					16																	24560270		2197	4296	6493	SO:0001587	stop_gained	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24560270C>T		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.271C>T	16.37:g.24560270C>T	ENSP00000317872:p.Arg91*		Somatic				RBBP6_ENST00000452655.2_Nonsense_Mutation_p.R91*|RBBP6_ENST00000348022.2_Nonsense_Mutation_p.R91*|RBBP6_ENST00000381039.3_Nonsense_Mutation_p.R91*	p.R91*	NM_006910.4	NP_008841.2	WXS	Illumina GAIIx	Phase_I	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	3	703	+			91					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Nonsense_Mutation	SNP	ENST00000319715.4	37	c.271C>T	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050610	0.93740	.	.	ENSG00000122257	ENST00000381039;ENST00000452655;ENST00000319715;ENST00000348022	.	.	.	5.25	5.25	0.73442	.	0.257891	0.33092	N	0.005286	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.805	19.2086	0.93746	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000317872:R91X	R	+	1	2	RBBP6	24467771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.957000	0.70323	2.616000	0.88540	0.585000	0.79938	CGA		0.274	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		6	7	0	0	0	1	0	6	7					T	24560270	C	T	24560270	4	4	48	1	0	0	0	0	0	1	0	0	13118	876	31	1	281	1	RBBP6	16	24560270	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	202186	24560270	65794483	3581	8049										
RBBP6	5930	broad.mit.edu	37	chr16	24582569	24582569	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaggttaaaagttcaaaaaaCtctgcatctagtgaaaaagg	9	5	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:24582569C>A	ENST00000319715.4	+	18	4614	c.4182C>A	c.(4180-4182)aaC>aaA	p.N1394K	RBBP6_ENST00000381039.3_Missense_Mutation_p.N554K|RBBP6_ENST00000348022.2_Missense_Mutation_p.N1360K	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1394					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTTCAAAAAACTCTGCATCTA	0.398																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(4180-4182)aaC>aaA		retinoblastoma binding protein 6							48	48	48					16																	24582569		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24582569C>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4182C>A	16.37:g.24582569C>A	ENSP00000317872:p.Asn1394Lys		Somatic				RBBP6_ENST00000348022.2_Missense_Mutation_p.N1360K|RBBP6_ENST00000381039.3_Missense_Mutation_p.N554K	p.N1394K	NM_006910.4	NP_008841.2	WXS	Illumina GAIIx	Phase_I	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	18	4614	+			1394					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.4182C>A	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	7.963	0.747482	0.15710	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.17370	2.28;2.52;2.52	5.38	-0.559	0.11792	.	0.569444	0.16618	N	0.206639	T	0.07728	0.0194	N	0.14661	0.345	0.09310	N	1	B;B;B	0.15473	0.013;0.004;0.002	B;B;B	0.16289	0.015;0.015;0.007	T	0.41840	-0.9486	10	0.09843	T	0.71	-3.1152	9.3201	0.37959	0.0:0.4081:0.0:0.5919	.	554;1360;1394	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	K	554;1394;1360	ENSP00000370427:N554K;ENSP00000317872:N1394K;ENSP00000316291:N1360K	ENSP00000317872:N1394K	N	+	3	2	RBBP6	24490070	0.002000	0.14202	0.007000	0.13788	0.970000	0.65996	0.399000	0.20916	0.077000	0.16863	0.563000	0.77884	AAC		0.398	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		21	25	1	0	6.44725e-10	1	7.85205e-10	21	25					A	24582569	C	A	24582569	3	1	48	1	0	0	0	0	1	0	0	0	13118	564	20	5	4306	5	RBBP6	16	24582569	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	22299	24582569	65772184	3582	8050										
TNRC6A	27327	broad.mit.edu	37	chr16	24834300	24834300	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggtccgctacagttcaaaaGaagaggtagtgaaggcacaa	12	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:24834300G>T	ENST00000395799.3	+	24	5608	c.5479G>T	c.(5479-5481)Gaa>Taa	p.E1827*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.E1778*|TNRC6A_ENST00000432286.2_Nonsense_Mutation_p.E305*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1827	RRM.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAGTTCAAAAGAAGAGGTAGT	0.542																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(5479-5481)Gaa>Taa		trinucleotide repeat containing 6A							141	122	128					16																	24834300		2197	4300	6497	SO:0001587	stop_gained	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24834300G>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5479G>T	16.37:g.24834300G>T	ENSP00000379144:p.Glu1827*		Somatic				TNRC6A_ENST00000432286.2_Nonsense_Mutation_p.E305*|TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.E1778*	p.E1827*	NM_014494.2	NP_055309.2	WXS	Illumina GAIIx	Phase_I	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	24	5608	+			1827			RRM.|Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Nonsense_Mutation	SNP	ENST00000395799.3	37	c.5479G>T	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	47|47	13.345428|13.345428	0.99736|0.99736	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286|ENST00000450465	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.056680|.	0.64402|.	D|.	0.000001|.	.|T	.|0.74268	.|0.3694	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74051	.|-0.3789	.|3	0.72032|.	D|.	0.01|.	-7.1327|-7.1327	18.3036|18.3036	0.90172|0.90172	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1778;1827;305|717	.|.	ENSP00000326900:E1778X|.	E|R	+|+	1|2	0|0	TNRC6A|TNRC6A	24741801|24741801	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.809000|7.809000	0.86057|0.86057	2.303000|2.303000	0.77524|0.77524	0.651000|0.651000	0.88453|0.88453	GAA|AGA		0.542	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		52	112	1	0	2.81731e-22	1	3.91347e-22	52	112					T	24834300	G	T	24834300	4	4	48	1	0	0	0	0	0	1	0	0	16355	943	33	2	5573	2	TNRC6A	16	24834300	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	251731	24834300	65520453	3583	8051										
GTF3C1	2975	broad.mit.edu	37	chr16	27481617	27481617	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttatcctggtctttgaaagaGaaacgatcaggctggtccaa	10	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:27481617G>T	ENST00000356183.4	-	31	4641	c.4626C>A	c.(4624-4626)ttC>ttA	p.F1542L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.F1542L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1542					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						CTTTGAAAGAGAAACGATCAG	0.522																																						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.(4624-4626)ttC>ttA		general transcription factor IIIC, polypeptide 1, alpha 220kDa							134	140	138					16																	27481617		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27481617G>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.4626C>A	16.37:g.27481617G>T	ENSP00000348510:p.Phe1542Leu		Somatic				GTF3C1_ENST00000561623.1_Missense_Mutation_p.F1542L	p.F1542L	NM_001520.3	NP_001511.2	WXS	Illumina GAIIx	Phase_I	Q12789	TF3C1_HUMAN			31	4641	-			1542					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.4626C>A	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	8.278	0.814984	0.16607	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.22743	1.94	5.57	-2.73	0.05950	.	0.276491	0.36591	N	0.002506	T	0.40979	0.1139	M	0.73962	2.25	0.32111	N	0.589286	B;D	0.71674	0.282;0.998	B;D	0.80764	0.076;0.994	T	0.51537	-0.8693	10	0.54805	T	0.06	-18.9382	14.0868	0.64962	0.4721:0.0:0.5279:0.0	.	1542;1542	Q12789;Q12789-3	TF3C1_HUMAN;.	L	1542;1538	ENSP00000348510:F1542L	ENSP00000348510:F1542L	F	-	3	2	GTF3C1	27389118	0.830000	0.29337	0.569000	0.28460	0.941000	0.58515	-0.121000	0.10643	-0.405000	0.07599	-0.469000	0.05056	TTC		0.522	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		61	138	1	0	5.82218e-30	1	8.31339e-30	61	138					T	27481617	G	T	27481617	3	4	48	1	0	0	0	0	1	0	0	0	6881	933	33	2	1731	2	GTF3C1	16	27481617	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2647317	27481617	62873136	3584	8052										
CD19	930	broad.mit.edu	37	chr16	28948597	28948597	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccccaaacccccaggcccaGaagaagaggaaggggagggc	14	13	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:28948597G>T	ENST00000324662.3	+	9	1248	c.1204G>T	c.(1204-1206)Gaa>Taa	p.E402*	CD19_ENST00000538922.1_Nonsense_Mutation_p.E402*|CD19_ENST00000567541.1_Nonsense_Mutation_p.E402*			P15391	CD19_HUMAN	CD19 molecule	402					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCCAGGCCCAGAAGAAGAGGA	0.622																																						ENST00000538922.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						c.(1204-1206)Gaa>Taa		CD19 molecule							52	58	56					16																	28948597		2196	4300	6496	SO:0001587	stop_gained	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28948597G>T		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1633	protein-coding gene	gene with protein product		107265	"CD19 antigen"				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1204G>T	16.37:g.28948597G>T	ENSP00000313419:p.Glu402*		Somatic				CD19_ENST00000324662.3_Nonsense_Mutation_p.E402*|CD19_ENST00000567541.1_Nonsense_Mutation_p.E402*	p.E402*	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	WXS	Illumina GAIIx	Phase_I	P15391	CD19_HUMAN			9	1266	+			402					A0N0P9|F5H635|Q96S68|Q9BRD6	Nonsense_Mutation	SNP	ENST00000324662.3	37	c.1204G>T	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926262	0.73327	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662;ENST00000537306	.	.	.	4.39	3.3	0.37823	.	0.409080	0.21102	N	0.080154	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-0.0039	7.1539	0.25626	0.1575:0.0:0.8425:0.0	.	.	.	.	X	402;209;402;251	.	ENSP00000313419:E402X	E	+	1	0	CD19	28856098	0.972000	0.33761	0.866000	0.34008	0.176000	0.22953	1.559000	0.36320	0.810000	0.34279	0.462000	0.41574	GAA		0.622	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			3	18	1	0	0.00909568	1	0.00935351	3	18					T	28948597	G	T	28948597	4	4	48	1	0	0	0	0	0	1	0	0	2975	943	33	2	1238	2	CD19	16	28948597	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1466980	28948597	61406156	3585	8053										
TAOK2	8479	broad.mit.edu	37	chr16	30002147	30002147	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggcagagttccaggcccttCggcagcagcttcaacaggag	13	12	1	1	rs376168411		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30002147C>T	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Missense_Mutation_p.R830W	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CCAGGCCCTTCGGCAGCAGCT	0.602																																						ENST00000279394.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2488-2490)Cgg>Tgg		TAO kinase 2		C	TRP/ARG	0,4392		0,0,2196	48	54	52		2488	4.4	1	16		52	1,8599		0,1,4299	no	missense	TAOK2	NM_004783.2	101	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		830/1050	30002147	1,12991	2196	4300	6496	SO:0001628	intergenic_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:30002147C>T	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"HIRA-interacting protein 3"			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002147C>T			Somatic					p.R830W	NM_004783.3	NP_004774.1	WXS	Illumina GAIIx	Phase_I	Q9UL54	TAOK2_HUMAN			18	2891	+			709			Glu-rich.		H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.2488C>T	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189172	0.57909	0.0	1.16E-4	ENSG00000149930	ENST00000279394	T	0.71461	-0.57	5.39	4.42	0.53409	.	.	.	.	.	T	0.81307	0.4795	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	T	0.82321	-0.0515	8	.	.	.	.	14.2063	0.65737	0.151:0.849:0.0:0.0	.	830	Q9UL54-2	.	W	830	ENSP00000279394:R830W	.	R	+	1	2	TAOK2	29909648	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.586000	0.36611	1.232000	0.43678	0.563000	0.77884	CGG		0.602	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		50	79	0	0	0	1	0	50	79					T	30002147	C	T	30002147	1	4	48	0	1	0	0	0	0	0	0	0	15563	875	31	1		1	TAOK2	16	30002147	IGR	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1053550	30002147	60352606	3586	8054										
ITGAL	3683	broad.mit.edu	37	chr16	30507506	30507506	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catcactgctctgacagacaTcaacggcgatgggctggtag	12	11	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30507506T>G	ENST00000356798.6	+	14	1772	c.1592T>G	c.(1591-1593)aTc>aGc	p.I531S	ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.I448S|RP11-297C4.1_ENST00000563751.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	531					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)	CTGACAGACATCAACGGCGAT	0.617																																					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.(1591-1593)aTc>aGc		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						91	99	97					16																	30507506		2197	4300	6497	SO:0001583	missense	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30507506T>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.1592T>G	16.37:g.30507506T>G	ENSP00000349252:p.Ile531Ser		Somatic				ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Missense_Mutation_p.I448S|ITGAL_ENST00000433423.2_Intron	p.I531S	NM_002209.2	NP_002200.2	WXS	Illumina GAIIx	Phase_I	P20701	ITAL_HUMAN			14	1772	+			531					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.1592T>G	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978109	0.74360	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.71461	-0.57;-0.57	5.94	5.94	0.96194	.	0.330721	0.26143	N	0.026095	D	0.83362	0.5238	M	0.79258	2.445	0.80722	D	1	D;D	0.64830	0.994;0.989	D;D	0.69142	0.95;0.962	D	0.85428	0.1147	10	0.87932	D	0	.	13.9183	0.63914	0.0:0.0:0.0:1.0	.	448;531	Q96HB1;P20701	.;ITAL_HUMAN	S	531;448	ENSP00000349252:I531S;ENSP00000350886:I448S	ENSP00000349252:I531S	I	+	2	0	ITGAL	30415007	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	6.318000	0.72866	2.272000	0.75746	0.460000	0.39030	ATC		0.617	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			23	125	0	0	0	1	0	23	125					G	30507506	T	G	30507506	3	3	48	1	0	0	0	0	1	0	0	0	7895	1435	50	4	1646	4	ITGAL	16	30507506	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	505359	30507506	59847247	3587	8055										
FBRS	64319	broad.mit.edu	37	chr16	30680679	30680679	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctggagccaacctggttgGcagcacccccacgcctggca	11	17	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30680679G>T	ENST00000287468.5	+	12	1359	c.1096G>T	c.(1096-1098)Gca>Tca	p.A366S	FBRS_ENST00000395073.2_Missense_Mutation_p.A278S|FBRS_ENST00000356166.6_Missense_Mutation_p.A886S|FBRS_ENST00000568722.1_Missense_Mutation_p.A278S	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	366	Pro-rich.									ovary(1)	1			Colorectal(24;0.103)			AACCTGGTTGGCAGCACCCCC	0.692																																						ENST00000356166.6																			0				ovary(1)	1						c.(2656-2658)Gca>Tca		fibrosin							14	17	16					16																	30680679		2188	4281	6469	SO:0001583	missense	64319							g.chr16:30680679G>T	AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"fibrosin 1"	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.1096G>T	16.37:g.30680679G>T	ENSP00000287468:p.Ala366Ser		Somatic				FBRS_ENST00000395073.2_Missense_Mutation_p.A278S|FBRS_ENST00000287468.5_Missense_Mutation_p.A366S|FBRS_ENST00000568722.1_Missense_Mutation_p.A278S	p.A886S			WXS	Illumina GAIIx	Phase_I	Q9HAH7	FBRS_HUMAN	Colorectal(24;0.103)		18	3744	+			366					B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	ENST00000287468.5	37	c.2656G>T		.	.	.	.	.	.	.	.	.	.	G	10.23	1.293289	0.23564	.	.	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	T	0.32023	1.47	4.76	3.74	0.42951	.	0.180823	0.33813	N	0.004527	T	0.15998	0.0385	N	0.08118	0	0.29061	N	0.883913	B	0.28636	0.218	B	0.27796	0.083	T	0.07986	-1.0744	10	0.21014	T	0.42	-2.2804	14.705	0.69183	0.0:0.1466:0.8534:0.0	.	366	Q9HAH7	FBRS_HUMAN	S	886;366;278	ENSP00000348489:A886S	ENSP00000287468:A366S	A	+	1	0	FBRS	30588180	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.408000	0.44574	2.656000	0.90262	0.561000	0.74099	GCA		0.692	FBRS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022452		19	43	1	0	6.94344e-10	1	8.4399e-10	19	43					T	30680679	G	T	30680679	3	4	48	1	0	0	0	0	1	0	0	0	5715	1203	42	5	1138	5	FBRS	16	30680679	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	173173	30680679	59674074	3588	8056										
ZNF629	23361	broad.mit.edu	37	chr16	30793260	30793260	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggaggggggtcctcgggatTggggggtttttcctgggtgt	21	5	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30793260T>C	ENST00000262525.4	-	3	2596	c.2389A>G	c.(2389-2391)Aat>Gat	p.N797D	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	797					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)			TCCTCGGGATTGGGGGGTTTT	0.657																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(2389-2391)Aat>Gat		zinc finger protein 629							79	94	89					16																	30793260		1909	4109	6018	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793260T>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.2389A>G	16.37:g.30793260T>C	ENSP00000262525:p.Asn797Asp		Somatic					p.N797D	NM_001080417.1	NP_001073886.1	WXS	Illumina GAIIx	Phase_I	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2596	-			797					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.2389A>G	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	T	9.085	1.000176	0.19121	.	.	ENSG00000102870	ENST00000262525	T	0.07688	3.17	5.65	2.0	0.26442	.	3.833270	0.00843	N	0.001779	T	0.04952	0.0133	N	0.08118	0	0.21256	N	0.999745	B	0.06786	0.001	B	0.06405	0.002	T	0.32877	-0.9890	10	0.33940	T	0.23	12.4802	2.62	0.04914	0.1388:0.0826:0.1958:0.5829	.	797	Q9UEG4	ZN629_HUMAN	D	797	ENSP00000262525:N797D	ENSP00000262525:N797D	N	-	1	0	ZNF629	30700761	0.009000	0.17119	0.707000	0.30419	0.192000	0.23643	-0.234000	0.09028	0.345000	0.23873	0.459000	0.35465	AAT		0.657	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		10	135	0	0	0	1	0	10	135					C	30793260	T	C	30793260	3	2	48	1	0	0	0	0	1	0	0	0	18068	1812	63	4	224	4	ZNF629	16	30793260	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	112581	30793260	59561493	3589	8057										
FBXL19	54620	broad.mit.edu	37	chr16	30939819	30939819	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgagagaggcacctgaagaAggtgggtggagacgcctgcc	17	10	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30939819A>C	ENST00000380310.2	+	6	877	c.719A>C	c.(718-720)aAg>aCg	p.K240T	FBXL19_ENST00000562319.1_Missense_Mutation_p.K220T|FBXL19_ENST00000565690.1_Splice_Site_p.K147T|FBXL19_ENST00000338343.4_Missense_Mutation_p.K220T|FBXL19_ENST00000471231.2_5'UTR	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	240	Pro-rich.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CACCTGAAGAAGGTGGGTGGA	0.627																																						ENST00000338343.4																			0				breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(658-660)aAg>aCg		F-box and leucine-rich repeat protein 19							25	29	28					16																	30939819		1905	4124	6029	SO:0001583	missense	54620						DNA binding|zinc ion binding	g.chr16:30939819A>C	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"F-boxes / Leucine-rich repeats"	25300	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1C"	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.719A>C	16.37:g.30939819A>C	ENSP00000369666:p.Lys240Thr		Somatic				FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000380310.2_Missense_Mutation_p.K240T|FBXL19_ENST00000562319.1_Missense_Mutation_p.K220T|FBXL19_ENST00000565690.1_Splice_Site_p.K147_splice	p.K220T			WXS	Illumina GAIIx	Phase_I	Q6PCT2	FXL19_HUMAN			6	1046	+			240			Pro-rich.		A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	c.659A>C	CCDS45465.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	11.06|11.06	1.526416|1.526416	0.27299|0.27299	.|.	.|.	ENSG00000099364|ENSG00000099364	ENST00000427128|ENST00000338343;ENST00000380310	.|T;T	.|0.32023	.|1.47;1.78	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|1.921710	.|0.02503	.|N	.|0.090697	T|T	0.41259|0.41259	0.1151|0.1151	N|N	0.08118|0.08118	0|0	0.40374|0.40374	D|D	0.979378|0.979378	.|D;D	.|0.64830	.|0.994;0.968	.|D;D	.|0.73708	.|0.981;0.969	T|T	0.18555|0.18555	-1.0333|-1.0333	5|10	.|0.59425	.|D	.|0.04	-17.0126|-17.0126	12.2983|12.2983	0.54860|0.54860	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|240;240	.|Q6PCT2;Q6PCT2-2	.|FXL19_HUMAN;.	D|T	174|220;240	.|ENSP00000339712:K220T;ENSP00000369666:K240T	.|ENSP00000339712:K220T	E|K	+|+	3|2	2|0	FBXL19|FBXL19	30847320|30847320	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.567000|4.567000	0.60850|0.60850	1.900000|1.900000	0.55004|0.55004	0.392000|0.392000	0.25879|0.25879	GAA|AAG		0.627	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_019085		12	15	0	0	0	1	0	12	15					C	30939819	A	C	30939819	3	2	48	1	0	0	0	0	1	0	0	0	5723	72	3	4	741	4	FBXL19	16	30939819	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	146559	30939819	59414934	3590	8058										
SETD1A	9739	broad.mit.edu	37	chr16	30970433	30970433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actcaaagtatataccagtcGaagacctccaagacccccgt	6	14	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30970433G>A	ENST00000262519.8	+	3	858	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	58					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TATACCAGTCGAAGACCTCCA	0.522																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(172-174)Gaa>Aaa		SET domain containing 1A							152	149	150					16																	30970433		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30970433G>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.172G>A	16.37:g.30970433G>A	ENSP00000262519:p.Glu58Lys		Somatic					p.E58K	NM_014712.1	NP_055527.1	WXS	Illumina GAIIx	Phase_I	O15047	SET1A_HUMAN			3	858	+			58					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.172G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084215	0.36758	.	.	ENSG00000099381	ENST00000262519;ENST00000452917;ENST00000449974	D	0.94046	-3.34	5.66	4.51	0.55191	.	0.123240	0.52532	D	0.000063	T	0.81370	0.4808	N	0.12182	0.205	0.27104	N	0.96255	P	0.35551	0.509	B	0.20184	0.028	T	0.71517	-0.4569	10	0.11182	T	0.66	.	11.2562	0.49056	0.1379:0.0:0.8621:0.0	.	58	O15047	SET1A_HUMAN	K	58	ENSP00000262519:E58K	ENSP00000262519:E58K	E	+	1	0	SETD1A	30877934	1.000000	0.71417	0.987000	0.45799	0.977000	0.68977	4.941000	0.63540	2.669000	0.90835	0.655000	0.94253	GAA		0.522	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		61	124	0	0	0	1	0	61	124					A	30970433	G	A	30970433	3	1	48	1	0	0	0	0	1	0	0	0	14145	1059	37	1	178	1	SETD1A	16	30970433	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	30614	30970433	59384320	3591	8059										
ZNF646	9726	broad.mit.edu	37	chr16	31087953	31087953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acatgctcctgagggccgccGcaggcacaggcccccacgcc	12	19	0	1	rs371981304		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31087953G>A	ENST00000394979.2	+	1	731	c.308G>A	c.(307-309)cGc>cAc	p.R103H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R103H|ZNF668_ENST00000300849.4_5'Flank|ZNF668_ENST00000564456.1_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	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)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAGGGCCGCCGCAGGCACAGG	0.617																																						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.(307-309)cGc>cAc		zinc finger protein 646		G	HIS/ARG	0,4394		0,0,2197	37	36	37		308	2.6	0.8	16		37	2,8598	1.2+/-3.3	0,2,4298	no	missense	ZNF646	NM_014699.3	29	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	benign	103/1833	31087953	2,12992	2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31087953G>A	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.308G>A	16.37:g.31087953G>A	ENSP00000378429:p.Arg103His		Somatic				ZNF646_ENST00000300850.5_Missense_Mutation_p.R103H	p.R103H			WXS	Illumina GAIIx	Phase_I	O15015	ZN646_HUMAN			1	731	+			103					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.308G>A		.	.	.	.	.	.	.	.	.	.	G	10.70	1.423778	0.25639	0.0	2.33E-4	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979	T;T;T	0.10005	3.22;2.92;2.94	5.65	2.56	0.30785	.	.	.	.	.	T	0.04815	0.0130	N	0.14661	0.345	0.09310	N	1	P	0.37398	0.593	B	0.27715	0.082	T	0.35325	-0.9793	9	0.40728	T	0.16	-10.9939	4.9254	0.13891	0.2974:0.0:0.5643:0.1383	.	103	O15015-2	.	H	103	ENSP00000391271:R103H;ENSP00000300850:R103H;ENSP00000378429:R103H	ENSP00000300850:R103H	R	+	2	0	ZNF646	30995454	0.001000	0.12720	0.804000	0.32291	0.965000	0.64279	-0.101000	0.10973	0.712000	0.32039	0.563000	0.77884	CGC		0.617	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		30	32	0	0	0	1	0	30	32					A	31087953	G	A	31087953	3	1	48	1	0	0	0	0	1	0	0	0	18077	1087	38	1	310	1	ZNF646	16	31087953	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	117520	31087953	59266800	3592	8060										
BCKDK	10295	broad.mit.edu	37	chr16	31122015	31122015	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttctccggccagcctgacTttgtcggcatcatctgtact	8	14	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31122015T>G	ENST00000394951.1	+	9	1272	c.649T>G	c.(649-651)Ttt>Gtt	p.F217V	BCKDK_ENST00000394950.3_Missense_Mutation_p.F217V|BCKDK_ENST00000219794.6_Missense_Mutation_p.F217V|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000287507.3_Missense_Mutation_p.F217V			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	217	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						CCAGCCTGACTTTGTCGGCAT	0.577																																						ENST00000394951.1																			0				breast(1)|stomach(1)	2						c.(649-651)Ttt>Gtt		branched chain ketoacid dehydrogenase kinase							125	126	126					16																	31122015		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.chr16:31122015T>G	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.649T>G	16.37:g.31122015T>G	ENSP00000378405:p.Phe217Val		Somatic				BCKDK_ENST00000394950.3_Missense_Mutation_p.F217V|BCKDK_ENST00000219794.6_Missense_Mutation_p.F217V|BCKDK_ENST00000287507.3_Missense_Mutation_p.F217V	p.F217V			WXS	Illumina GAIIx	Phase_I	O14874	BCKD_HUMAN			9	1272	+			217			Histidine kinase.		A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	ENST00000394951.1	37	c.649T>G	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967730	0.53507	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.52	4.52	0.55395	ATPase-like, ATP-binding domain (1);Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (2);	0.051139	0.85682	D	0.000000	T	0.27098	0.0664	L	0.42008	1.315	0.80722	D	1	P;P	0.38677	0.642;0.642	B;B	0.36808	0.233;0.233	T	0.07102	-1.0790	10	0.46703	T	0.11	-18.8566	13.2787	0.60202	0.0:0.0:0.0:1.0	.	217;217	Q96G95;O14874	.;BCKD_HUMAN	V	217	ENSP00000378405:F217V;ENSP00000219794:F217V;ENSP00000378404:F217V;ENSP00000287507:F217V	ENSP00000219794:F217V	F	+	1	0	BCKDK	31029516	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	6.750000	0.74888	2.026000	0.59711	0.533000	0.62120	TTT		0.577	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		7	135	0	0	0	1	0	7	135					G	31122015	T	G	31122015	3	3	48	1	0	0	0	0	1	0	0	0	1361	1609	56	4	675	4	BCKDK	16	31122015	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	34062	31122015	59232738	3593	8061										
PRSS8	5652	broad.mit.edu	37	chr16	31143831	31143831	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcggctcctcaggcttggcGtcgatgttgtacaggcagtt	14	10	1	0	rs148214625	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31143831G>A	ENST00000317508.6	-	5	887	c.624C>T	c.(622-624)gaC>gaT	p.D208D	RP11-388M20.2_ENST00000563605.1_RNA|PRSS8_ENST00000568261.1_Silent_p.D154D	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	208	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						CAGGCTTGGCGTCGATGTTGT	0.607													G|||	2	0.000399361	0	0	5008	,	,		19538	0		0.002	False		,,,				2504	0					ENST00000317508.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(622-624)gaC>gaT		protease, serine, 8		G		1,4247		0,1,2123	103	110	108		624	-6.3	0	16	dbSNP_134	108	4,8458		0,4,4227	no	coding-synonymous	PRSS8	NM_002773.3		0,5,6350	AA,AG,GG		0.0473,0.0235,0.0393		208/344	31143831	5,12705	2124	4231	6355	SO:0001819	synonymous_variant	5652				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr16:31143831G>A	U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"Serine peptidases / Serine peptidases"	9491	protein-coding gene	gene with protein product	"prostasin"	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.624C>T	16.37:g.31143831G>A			Somatic				PRSS8_ENST00000568261.1_Silent_p.D154D	p.D208D	NM_002773.3	NP_002764.1	WXS	Illumina GAIIx	Phase_I	Q16651	PRSS8_HUMAN			5	887	-			208			Peptidase S1.		B4DWP2|Q9UCA3	Silent	SNP	ENST00000317508.6	37	c.624C>T	CCDS45469.1																																																																																				0.607	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433536.1	NM_002773		25	46	0	0	0	1	0	25	46					A	31143831	G	A	31143831	2	1	48	1	0	0	0	0	0	0	0	1	12647	1136	40	1		1	PRSS8	16	31143831	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	21816	31143831	59210922	3594	8062										
ITGAM	3684	broad.mit.edu	37	chr16	31341654	31341654	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctccatcgctgtctgccagaGaatccagtgtgacatcccgt	9	14	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31341654G>T	ENST00000287497.8	+	27	3161	c.3086G>T	c.(3085-3087)aGa>aTa	p.R1029I	ITGAM_ENST00000544665.3_Missense_Mutation_p.R1030I			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1029					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						GTCTGCCAGAGAATCCAGTGT	0.557																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(3088-3090)aGa>aTa		integrin, alpha M (complement component 3 receptor 3 subunit)							81	82	82					16																	31341654		2008	4188	6196	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31341654G>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.3086G>T	16.37:g.31341654G>T	ENSP00000287497:p.Arg1029Ile		Somatic				ITGAM_ENST00000287497.8_Missense_Mutation_p.R1029I	p.R1030I	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	WXS	Illumina GAIIx	Phase_I	P11215	ITAM_HUMAN			27	3160	+			1029					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.3089G>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801714	0.50315	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.23552	1.9;1.9	5.51	2.2	0.27929	.	.	.	.	.	T	0.25975	0.0633	M	0.80746	2.51	0.09310	N	0.999999	P;P	0.46784	0.884;0.884	B;B	0.36989	0.238;0.238	T	0.24835	-1.0149	9	0.46703	T	0.11	.	6.0065	0.19549	0.0894:0.0:0.5762:0.3344	.	1029;1029	Q4VAK1;P11215	.;ITAM_HUMAN	I	1030;1029	ENSP00000441691:R1030I;ENSP00000287497:R1029I	ENSP00000287497:R1029I	R	+	2	0	ITGAM	31249155	0.019000	0.18553	0.616000	0.29078	0.965000	0.64279	0.149000	0.16243	1.305000	0.44909	0.453000	0.30009	AGA		0.557	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		22	55	1	0	7.45023e-12	1	9.31775e-12	22	55					T	31341654	G	T	31341654	3	4	48	1	0	0	0	0	1	0	0	0	7896	942	33	2	3195	2	ITGAM	16	31341654	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	197823	31341654	59013099	3595	8063										
ARMC5	79798	broad.mit.edu	37	chr16	31471145	31471145	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgtcggccgcgtcgggagcTtctagccccgcccccgcgtc	13	19	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31471145T>G	ENST00000563544.1	+	2	846	c.300T>G	c.(298-300)gcT>gcG	p.A100A	ARMC5_ENST00000268314.4_Silent_p.A100A|ARMC5_ENST00000408912.3_Silent_p.A195A|ARMC5_ENST00000538189.1_Silent_p.A132A|ARMC5_ENST00000457010.2_Silent_p.A100A|ARMC5_ENST00000412665.2_5'Flank|RP11-452L6.5_ENST00000564629.1_RNA			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	100										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGTCGGGAGCTTCTAgccccg	0.761																																						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.(298-300)gcT>gcG		armadillo repeat containing 5							3	4	4					16																	31471145		1270	3033	4303	SO:0001819	synonymous_variant	79798						binding	g.chr16:31471145T>G	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.300T>G	16.37:g.31471145T>G			Somatic				ARMC5_ENST00000408912.3_Silent_p.A195A|ARMC5_ENST00000268314.4_Silent_p.A100A|ARMC5_ENST00000538189.1_Silent_p.A132A|ARMC5_ENST00000563544.1_Silent_p.A100A	p.A100A	NM_024742.2	NP_079018.1	WXS	Illumina GAIIx	Phase_I	Q96C12	ARMC5_HUMAN			1	1001	+			100					Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.300T>G	CCDS45472.1																																																																																				0.761	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		4	6	0	0	0	1	0	4	6					G	31471145	T	G	31471145	2	3	48	1	0	0	0	0	0	0	0	1	954	1596	56	4		4	ARMC5	16	31471145	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	129491	31471145	58883608	3596	8064										
SLC5A2	6524	broad.mit.edu	37	chr16	31500065	31500065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgcgcctgcggccacgcgccGgcgaccgcgagctgctgctg	16	18	0	0	rs537966489	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31500065G>A	ENST00000330498.3	+	10	1271	c.1252G>A	c.(1252-1254)Ggc>Agc	p.G418S	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	418					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)			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)	GCCACGCGCCGGCGACCGCGA	0.711													G|||	2	0.000399361	0	0	5008	,	,		14971	0		0.001	False		,,,				2504	0.001					ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1252-1254)Ggc>Agc		solute carrier family 5 (sodium/glucose cotransporter), member 2							13	13	13					16																	31500065		2191	4294	6485	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31500065G>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.1252G>A	16.37:g.31500065G>A	ENSP00000327943:p.Gly418Ser		Somatic					p.G418S	NM_003041.3	NP_003032.1	WXS	Illumina GAIIx	Phase_I	P31639	SC5A2_HUMAN			10	1271	+			418					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.1252G>A	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.360315	0.01245	.	.	ENSG00000140675	ENST00000330498	D	0.86694	-2.16	4.46	-1.11	0.09840	.	0.660669	0.15277	N	0.270905	T	0.56949	0.2020	N	0.00873	-1.125	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.56135	-0.8029	10	0.02654	T	1	.	8.489	0.33089	0.4676:0.0:0.5324:0.0	.	418	P31639	SC5A2_HUMAN	S	418	ENSP00000327943:G418S	ENSP00000327943:G418S	G	+	1	0	SLC5A2	31407566	0.000000	0.05858	0.000000	0.03702	0.228000	0.25075	-0.884000	0.04166	-0.336000	0.08438	-0.254000	0.11334	GGC		0.711	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			12	26	0	0	0	1	0	12	26					A	31500065	G	A	31500065	3	1	48	1	0	0	0	0	1	0	0	0	14680	1116	39	1	1290	1	SLC5A2	16	31500065	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	28920	31500065	58854688	3597	8065										
ZNF267	10308	broad.mit.edu	37	chr16	31925870	31925870	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcattccaaaaagtgatatcGaggagacatgggagctgtga	12	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31925870G>A	ENST00000300870.10	+	4	509	c.300G>A	c.(298-300)tcG>tcA	p.S100S	ZNF267_ENST00000394846.3_3'UTR	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	100					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)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAGTGATATCGAGGAGACATG	0.368																																						ENST00000300870.10																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(298-300)tcG>tcA		zinc finger protein 267							98	97	97					16																	31925870		2197	4300	6497	SO:0001819	synonymous_variant	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31925870G>A	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.300G>A	16.37:g.31925870G>A			Somatic				RP11-170L3.8_ENST00000575471.1_RNA|ZNF267_ENST00000394846.3_3'UTR	p.S100S	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	WXS	Illumina GAIIx	Phase_I	Q14586	ZN267_HUMAN			4	509	+			100					A0JNZ9|Q8NE41|Q9NRJ0	Silent	SNP	ENST00000300870.10	37	c.300G>A	CCDS32440.1																																																																																				0.368	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		4	67	0	0	0	1	0	4	67					A	31925870	G	A	31925870	2	1	48	1	0	0	0	0	0	0	0	1	17821	1045	37	1		1	ZNF267	16	31925870	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	425805	31925870	58428883	3598	8066										
ZNF267	10308	broad.mit.edu	37	chr16	31926769	31926769	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caatcttattgtgcatcagaGaattcacactggagagaaac	8	8	3	2	rs372256746		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31926769G>T	ENST00000300870.10	+	4	1408	c.1199G>T	c.(1198-1200)aGa>aTa	p.R400I		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	400					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)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GTGCATCAGAGAATTCACACT	0.368																																						ENST00000300870.10																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(1198-1200)aGa>aTa		zinc finger protein 267							49	54	52					16																	31926769		2195	4296	6491	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31926769G>T	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1199G>T	16.37:g.31926769G>T	ENSP00000300870:p.Arg400Ile		Somatic				RP11-170L3.8_ENST00000575471.1_RNA	p.R400I	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	WXS	Illumina GAIIx	Phase_I	Q14586	ZN267_HUMAN			4	1408	+			400					A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.1199G>T	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	11.55	1.670983	0.29693	.	.	ENSG00000185947	ENST00000300870	T	0.24908	1.83	0.458	0.458	0.16670	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19765	0.0475	M	0.80422	2.495	0.80722	D	1	P	0.47106	0.89	B	0.31016	0.123	T	0.17018	-1.0383	9	0.54805	T	0.06	.	2.8152	0.05454	0.3857:0.0:0.6143:0.0	.	400	Q14586	ZN267_HUMAN	I	400	ENSP00000300870:R400I	ENSP00000300870:R400I	R	+	2	0	ZNF267	31834270	0.004000	0.15560	0.604000	0.28916	0.580000	0.36256	0.055000	0.14229	0.482000	0.27582	0.484000	0.47621	AGA		0.368	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		16	41	1	0	0.00316338	1	0.00328853	16	41					T	31926769	G	T	31926769	3	4	48	1	0	0	0	0	1	0	0	0	17821	942	33	2	1213	2	ZNF267	16	31926769	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	899	31926769	58427984	3599	8067										
MYLK3	91807	broad.mit.edu	37	chr16	46746599	46746599	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccacactccacatgtctgtgGggaatgagacaaactcataa	8	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:46746599G>T	ENST00000394809.4	-	10	2190	c.2075C>A	c.(2074-2076)cCc>cAc	p.P692H	MYLK3_ENST00000536476.1_Missense_Mutation_p.P351H|MYLK3_ENST00000562104.1_5'Flank	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	692	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)				CATGTCTGTGGGGAATGAGAC	0.527																																						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.(2074-2076)cCc>cAc		myosin light chain kinase 3							106	93	97					16																	46746599		2203	4300	6503	SO:0001583	missense	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.chr16:46746599G>T	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.2075C>A	16.37:g.46746599G>T	ENSP00000378288:p.Pro692His		Somatic				MYLK3_ENST00000536476.1_Missense_Mutation_p.P351H	p.P692H	NM_182493.2	NP_872299.2	WXS	Illumina GAIIx	Phase_I	Q32MK0	MYLK3_HUMAN			10	2190	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	692			Protein kinase.		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.2075C>A	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701359	0.68501	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.40225	1.04;1.04	5.85	5.85	0.93711	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	0.35436	N	0.003211	T	0.54029	0.1833	L	0.39245	1.2	0.58432	D	0.999998	P	0.49635	0.926	P	0.56216	0.794	T	0.53114	-0.8484	10	0.87932	D	0	.	20.1634	0.98142	0.0:0.0:1.0:0.0	.	692	Q32MK0	MYLK3_HUMAN	H	692;351	ENSP00000378288:P692H;ENSP00000439297:P351H	ENSP00000378288:P692H	P	-	2	0	MYLK3	45304100	1.000000	0.71417	0.942000	0.38095	0.447000	0.32167	7.876000	0.87215	2.773000	0.95371	0.655000	0.94253	CCC		0.527	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		24	69	1	0	2.98393e-07	1	3.42142e-07	24	69					T	46746599	G	T	46746599	3	4	48	1	0	0	0	0	1	0	0	0	10067	1232	43	5	400	5	MYLK3	16	46746599	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	14819830	46746599	43608154	3600	8068										
ABCC12	94160	broad.mit.edu	37	chr16	48121866	48121866	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctacaaacaggacaggatcCtgtgggatcacagtcagctt	10	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:48121866C>T	ENST00000311303.3	-	25	3951	c.3606G>A	c.(3604-3606)caG>caA	p.Q1202Q	ABCC12_ENST00000532355.1_5'Flank|ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1202	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)			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)				GGACAGGATCCTGTGGGATCA	0.438																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(3604-3606)caG>caA		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							94	87	89					16																	48121866		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48121866C>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.3606G>A	16.37:g.48121866C>T			Somatic				ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	p.Q1202Q	NM_033226.2	NP_150229.2	WXS	Illumina GAIIx	Phase_I	Q96J65	MRP9_HUMAN			25	3951	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1202			ABC transporter 2.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.3606G>A	CCDS10730.1																																																																																				0.438	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		10	41	0	0	0	1	0	10	41					T	48121866	C	T	48121866	2	4	48	1	0	0	0	0	0	0	0	1	52	680	24	3		3	ABCC12	16	48121866	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1375267	48121866	42232887	3601	8069										
ABCC12	94160	broad.mit.edu	37	chr16	48138169	48138169	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaaactgctgcagaaagttCtctgcgtgaaacggcagcct	10	10	1	2	rs141043396	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:48138169C>A	ENST00000311303.3	-	20	3129	c.2784G>T	c.(2782-2784)gaG>gaT	p.E928D	ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	928	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCAGAAAGTTCTCTGCGTGAA	0.498																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(2782-2784)gaG>gaT		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							173	165	168					16																	48138169		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48138169C>A	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.2784G>T	16.37:g.48138169C>A	ENSP00000311030:p.Glu928Asp		Somatic				ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR	p.E928D	NM_033226.2	NP_150229.2	WXS	Illumina GAIIx	Phase_I	Q96J65	MRP9_HUMAN			20	3129	-		all_cancers(37;0.0474)|all_lung(18;0.047)	928			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2784G>T	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641519	0.67244	.	.	ENSG00000140798	ENST00000311303;ENST00000449939	D	0.89810	-2.57	5.55	4.6	0.57074	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.052063	0.85682	D	0.000000	D	0.90109	0.6910	L	0.42008	1.315	0.80722	D	1	B	0.32409	0.37	P	0.50754	0.649	D	0.88403	0.3016	10	0.44086	T	0.13	.	11.2992	0.49295	0.0:0.9148:0.0:0.0852	.	928	Q96J65	MRP9_HUMAN	D	928;846	ENSP00000311030:E928D	ENSP00000311030:E928D	E	-	3	2	ABCC12	46695670	0.998000	0.40836	1.000000	0.80357	0.971000	0.66376	0.607000	0.24209	1.333000	0.45449	0.655000	0.94253	GAG		0.498	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		51	100	1	0	2.01872e-29	1	2.87446e-29	51	100					A	48138169	C	A	48138169	3	1	48	1	0	0	0	0	1	0	0	0	52	912	32	2	1335	2	ABCC12	16	48138169	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	16303	48138169	42216584	3602	8070										
ABCC12	94160	broad.mit.edu	37	chr16	48145699	48145699	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagttaccttgaactgcaaTcctcgcaggttgtgaatcag	10	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:48145699T>C	ENST00000311303.3	-	14	2457	c.2112A>G	c.(2110-2112)ggA>ggG	p.G704G	ABCC12_ENST00000448542.1_Silent_p.G704G|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	704						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGAACTGCAATCCTCGCAGGT	0.483																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(2110-2112)ggA>ggG		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							155	148	150					16																	48145699		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48145699T>C	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.2112A>G	16.37:g.48145699T>C			Somatic				ABCC12_ENST00000448542.1_Silent_p.G704G|ABCC12_ENST00000416054.1_3'UTR	p.G704G	NM_033226.2	NP_150229.2	WXS	Illumina GAIIx	Phase_I	Q96J65	MRP9_HUMAN			14	2457	-		all_cancers(37;0.0474)|all_lung(18;0.047)	704					Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.2112A>G	CCDS10730.1																																																																																				0.483	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		23	59	0	0	0	1	0	23	59					C	48145699	T	C	48145699	2	2	48	1	0	0	0	0	0	0	0	1	52	1422	50	4		4	ABCC12	16	48145699	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	7530	48145699	42209054	3603	8071										
N4BP1	9683	broad.mit.edu	37	chr16	48594765	48594765	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggtatttttagagtatctcGaaacctttgaaccccagtaa	8	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:48594765G>A	ENST00000262384.3	-	2	2025	c.1789C>T	c.(1789-1791)Cga>Tga	p.R597*	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	597					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				AGAGTATCTCGAAACCTTTGA	0.428																																						ENST00000262384.3																			0				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17						c.(1789-1791)Cga>Tga		NEDD4 binding protein 1							129	122	125					16																	48594765		1853	4087	5940	SO:0001587	stop_gained	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48594765G>A	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1789C>T	16.37:g.48594765G>A	ENSP00000262384:p.Arg597*		Somatic				RP11-44I10.3_ENST00000563994.1_RNA	p.R597*	NM_153029.3	NP_694574.3	WXS	Illumina GAIIx	Phase_I	O75113	N4BP1_HUMAN			2	2025	-		all_cancers(37;0.179)|all_lung(18;0.11)	597					A7MD49|Q2YDX1	Nonsense_Mutation	SNP	ENST00000262384.3	37	c.1789C>T	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	G	40	8.126217	0.98667	.	.	ENSG00000102921	ENST00000262384	.	.	.	5.93	3.82	0.43975	.	0.186444	0.48286	D	0.000182	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-6.7617	9.4098	0.38485	0.1227:0.0:0.7571:0.1202	.	.	.	.	X	597	.	ENSP00000262384:R597X	R	-	1	2	N4BP1	47152266	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.123000	0.41996	2.814000	0.96858	0.591000	0.81541	CGA		0.428	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		41	72	0	0	0	1	0	41	72					A	48594765	G	A	48594765	4	1	48	1	0	0	0	0	0	1	0	0	10118	1066	37	1	925	1	N4BP1	16	48594765	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	449066	48594765	41759988	3604	8072										
C16orf78	123970	broad.mit.edu	37	chr16	49412424	49412424	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggacgccgcctcctaccgaaGcctctatggagtggagcaaa	12	13	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:49412424G>T	ENST00000299191.3	+	3	431	c.314G>T	c.(313-315)aGc>aTc	p.S105I		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	105						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TCCTACCGAAGCCTCTATGGA	0.567																																						ENST00000299191.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						c.(313-315)aGc>aTc		chromosome 16 open reading frame 78							48	43	45					16																	49412424		2199	4300	6499	SO:0001583	missense	123970							g.chr16:49412424G>T	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.314G>T	16.37:g.49412424G>T	ENSP00000299191:p.Ser105Ile		Somatic					p.S105I	NM_144602.2	NP_653203.1	WXS	Illumina GAIIx	Phase_I	Q8WTQ4	CP078_HUMAN			3	431	+			105						Missense_Mutation	SNP	ENST00000299191.3	37	c.314G>T	CCDS10738.1	.	.	.	.	.	.	.	.	.	.	G	7.559	0.664317	0.14710	.	.	ENSG00000166152	ENST00000299191	T	0.43294	0.95	3.04	0.606	0.17559	.	0.747635	0.11431	N	0.564800	T	0.18215	0.0437	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.24440	-1.0160	9	.	.	.	-30.5255	4.4308	0.11525	0.5569:0.0:0.4431:0.0	.	105	Q8WTQ4	CP078_HUMAN	I	105	ENSP00000299191:S105I	.	S	+	2	0	C16orf78	47969925	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-1.149000	0.03182	0.115000	0.18071	-0.379000	0.06801	AGC		0.567	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		3	12	1	0	1	1	1	3	12					T	49412424	G	T	49412424	3	4	48	1	0	0	0	0	1	0	0	0	1837	971	34	5	324	5	C16orf78	16	49412424	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	817659	49412424	40942329	3605	8073										
ADCY7	113	broad.mit.edu	37	chr16	50326626	50326626	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttcctgtgtgggaacctgAcaggcgccttccacaagcac	10	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:50326626A>C	ENST00000394697.2	+	5	917	c.577A>C	c.(577-579)Aca>Cca	p.T193P	ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000537579.1_Missense_Mutation_p.T193P|ADCY7_ENST00000538642.1_Missense_Mutation_p.T193P|ADCY7_ENST00000254235.3_Missense_Mutation_p.T193P|ADCY7_ENST00000566433.2_Missense_Mutation_p.T193P			P51828	ADCY7_HUMAN	adenylate cyclase 7	193					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)		TGGGAACCTGACAGGCGCCTT	0.597																																						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.(577-579)Aca>Cca		adenylate cyclase 7	Bromocriptine(DB01200)						94	79	84					16																	50326626		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.chr16:50326626A>C	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.577A>C	16.37:g.50326626A>C	ENSP00000378187:p.Thr193Pro		Somatic				ADCY7_ENST00000538642.1_Missense_Mutation_p.T193P|ADCY7_ENST00000537579.1_Missense_Mutation_p.T193P|ADCY7_ENST00000566433.2_Missense_Mutation_p.T193P|ADCY7_ENST00000254235.3_Missense_Mutation_p.T193P|ADCY7_ENST00000564044.1_3'UTR	p.T193P			WXS	Illumina GAIIx	Phase_I	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	5	917	+		all_cancers(37;0.0127)	193					A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.577A>C	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.904067	0.33628	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	T;T;T;T	0.81330	-0.93;-1.48;-0.99;-1.48	4.87	3.78	0.43462	.	0.138389	0.31624	U	0.007321	T	0.76378	0.3979	L	0.61218	1.895	0.34554	D	0.71163	B;B	0.12630	0.005;0.006	B;B	0.12156	0.005;0.007	T	0.77161	-0.2689	10	0.49607	T	0.09	.	10.4171	0.44329	0.9233:0.0:0.0767:0.0	.	193;193	P51828;F5H4D1	ADCY7_HUMAN;.	P	193	ENSP00000445046:T193P;ENSP00000378187:T193P;ENSP00000437788:T193P;ENSP00000254235:T193P	ENSP00000254235:T193P	T	+	1	0	ADCY7	48884127	0.965000	0.33210	0.994000	0.49952	0.474000	0.32979	3.212000	0.51145	0.889000	0.36185	0.533000	0.62120	ACA		0.597	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			23	55	0	0	0	1	0	23	55					C	50326626	A	C	50326626	3	2	48	1	0	0	0	0	1	0	0	0	299	275	10	4	591	4	ADCY7	16	50326626	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	914202	50326626	40028127	3606	8074										
BRD7	29117	broad.mit.edu	37	chr16	50384060	50384060	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagtcacaggaaatgaaaaGaaagcacttggatcttttct	8	7	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:50384060G>T	ENST00000394688.3	-	5	624	c.465C>A	c.(463-465)ttC>ttA	p.F155L	BRD7_ENST00000401491.3_5'UTR|snoU13_ENST00000459559.1_RNA|BRD7_ENST00000394689.2_Missense_Mutation_p.F155L			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	155	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)			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)				GAAATGAAAAGAAAGCACTTG	0.333																																						ENST00000394688.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22						c.(463-465)ttC>ttA		bromodomain containing 7							73	69	71					16																	50384060		2198	4299	6497	SO:0001583	missense	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.chr16:50384060G>T	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.465C>A	16.37:g.50384060G>T	ENSP00000378180:p.Phe155Leu		Somatic				BRD7_ENST00000401491.3_5'UTR|BRD7_ENST00000394689.2_Missense_Mutation_p.F155L	p.F155L			WXS	Illumina GAIIx	Phase_I	Q9NPI1	BRD7_HUMAN			5	624	-		all_cancers(37;0.0127)	155			Bromo.		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	c.465C>A	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692846	0.88735	.	.	ENSG00000166164	ENST00000394688;ENST00000394689;ENST00000401491	T;T	0.17054	2.3;2.3	5.76	4.79	0.61399	Bromodomain (5);	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	L	0.39566	1.225	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.997	T	0.02047	-1.1223	10	0.72032	D	0.01	-3.5047	15.1885	0.73023	0.0688:0.0:0.9312:0.0	.	155;155	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	L	155	ENSP00000378180:F155L;ENSP00000378181:F155L	ENSP00000378180:F155L	F	-	3	2	BRD7	48941561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.978000	0.88095	2.725000	0.93324	0.591000	0.81541	TTC		0.333	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263		6	29	1	0	0.0215528	1	0.0219788	6	29					T	50384060	G	T	50384060	3	4	48	1	0	0	0	0	1	0	0	0	1507	933	33	2	1545	2	BRD7	16	50384060	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	57434	50384060	39970693	3607	8075										
NKD1	85407	broad.mit.edu	37	chr16	50667564	50667564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggtggccctgtcctggggCgggagcacctgcgggagctg	19	12	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:50667564C>T	ENST00000268459.3	+	10	1509	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	429					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TGTCCTGGGGCGGGAGCACCT	0.682																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(1285-1287)Cgg>Tgg		naked cuticle homolog 1 (Drosophila)							15	13	13					16																	50667564		2150	4226	6376	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667564C>T	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"EF-hand domain containing"	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.1285C>T	16.37:g.50667564C>T	ENSP00000268459:p.Arg429Trp		Somatic					p.R429W	NM_033119.4	NP_149110.1	WXS	Illumina GAIIx	Phase_I	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1509	+		all_cancers(37;0.229)	429					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.1285C>T	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841841	0.51057	.	.	ENSG00000140807	ENST00000268459	T	0.67171	-0.25	3.93	2.89	0.33648	.	0.058724	0.64402	D	0.000003	T	0.69242	0.3089	L	0.47716	1.5	0.36991	D	0.894767	D	0.71674	0.998	P	0.59546	0.859	T	0.74919	-0.3500	10	0.72032	D	0.01	-21.9784	8.5707	0.33567	0.3734:0.6266:0.0:0.0	.	429	Q969G9	NKD1_HUMAN	W	429	ENSP00000268459:R429W	ENSP00000268459:R429W	R	+	1	2	NKD1	49225065	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	4.823000	0.62694	2.019000	0.59389	0.305000	0.20034	CGG		0.682	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			5	15	0	0	0	1	0	5	15					T	50667564	C	T	50667564	3	4	48	1	0	0	0	0	1	0	0	0	10450	759	27	1	1323	1	NKD1	16	50667564	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	283504	50667564	39687189	3608	8076										
AKTIP	64400	broad.mit.edu	37	chr16	53528122	53528122	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaccttaacactgtcaacaActttacttttaaaaagctga	3	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:53528122A>C	ENST00000394657.7	-	8	812	c.638T>G	c.(637-639)gTt>gGt	p.V213G	AKTIP_ENST00000300245.4_Missense_Mutation_p.V213G|AKTIP_ENST00000570004.1_Missense_Mutation_p.V213G	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	213					apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				ACTGTCAACAACTTTACTTTT	0.348																																						ENST00000300245.4																			0				large_intestine(1)|lung(2)|prostate(2)	5						c.(637-639)gTt>gGt		AKT interacting protein							83	81	81					16																	53528122		2198	4300	6498	SO:0001583	missense	64400				apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding	g.chr16:53528122A>C	AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"Ubiquitin-conjugating enzymes E2"	16710	protein-coding gene	gene with protein product		608483	"fused toes (mouse) homolog", "fused toes homolog (mouse)"	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.638T>G	16.37:g.53528122A>C	ENSP00000378152:p.Val213Gly		Somatic				AKTIP_ENST00000570004.1_Missense_Mutation_p.V213G|AKTIP_ENST00000394657.6_Missense_Mutation_p.V213G	p.V213G			WXS	Illumina GAIIx	Phase_I	Q9H8T0	AKTIP_HUMAN			9	855	-		all_cancers(37;0.14)	213					Q503B1|Q53H38	Missense_Mutation	SNP	ENST00000394657.7	37	c.638T>G	CCDS10749.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.675645	0.88445	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	T;T	0.78481	-1.18;-1.18	5.72	5.72	0.89469	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.90752	0.7097	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.987	D	0.92876	0.6319	10	0.87932	D	0	-7.4744	16.2962	0.82776	1.0:0.0:0.0:0.0	.	213;213	Q9H8T0-2;Q9H8T0	.;AKTIP_HUMAN	G	213	ENSP00000378152:V213G;ENSP00000300245:V213G	ENSP00000300245:V213G	V	-	2	0	AKTIP	52085623	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.201000	0.95017	2.304000	0.77564	0.528000	0.53228	GTT		0.348	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256909.4	NM_022476		12	38	0	0	0	1	0	12	38					C	53528122	A	C	53528122	3	2	48	1	0	0	0	0	1	0	0	0	482	43	2	4	252	4	AKTIP	16	53528122	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2860558	53528122	36826631	3609	8077										
RPGRIP1L	23322	broad.mit.edu	37	chr16	53682877	53682877	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaagccaaatgagcttaccGactgcatatgctctggcccc	8	13	1	1	rs542206983		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:53682877G>A	ENST00000379925.3	-	16	2353	c.2303C>T	c.(2302-2304)tCg>tTg	p.S768L	RPGRIP1L_ENST00000262135.4_Splice_Site_p.S768L|RPGRIP1L_ENST00000564374.1_Splice_Site_p.S768L|RPGRIP1L_ENST00000563746.1_Splice_Site_p.S768L	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	768					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGAGCTTACCGACTGCATATG	0.353																																						ENST00000262135.4																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.e16+1		RPGRIP1-like							93	86	88					16																	53682877		2198	4300	6498	SO:0001630	splice_region_variant	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53682877G>A		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.2304+1C>T	16.37:g.53682877G>A			Somatic				RPGRIP1L_ENST00000564374.1_Splice_Site_p.S768_splice|RPGRIP1L_ENST00000379925.3_Splice_Site_p.S768_splice|RPGRIP1L_ENST00000563746.1_Splice_Site_p.S768_splice	p.S768_splice	NM_001127897.1	NP_001121369.1	WXS	Illumina GAIIx	Phase_I	Q68CZ1	FTM_HUMAN			16	2396	-		all_cancers(37;0.0973)	768					A0PJ88|Q9Y2K8	Splice_Site	SNP	ENST00000379925.3	37	c.2304_splice	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	5.355	0.250706	0.10130	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.76709	-0.82;-1.04	6.08	-0.274	0.12910	C2 calcium/lipid-binding domain, CaLB (1);	1.248750	0.05227	N	0.509701	T	0.51686	0.1689	N	0.08118	0	0.23677	N	0.997135	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.35425	-0.9789	10	0.10902	T	0.67	2.36	1.1816	0.01846	0.4393:0.1946:0.2258:0.1403	.	768;768;768;768	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	L	768	ENSP00000369257:S768L;ENSP00000262135:S768L	ENSP00000262135:S768L	S	-	2	0	RPGRIP1L	52240378	0.228000	0.23718	0.238000	0.24106	0.138000	0.21146	0.240000	0.18042	0.065000	0.16485	0.591000	0.81541	TCG		0.353	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272	Missense_Mutation	11	61	0	0	0	1	0	11	61					A	53682877	G	A	53682877	5	1	48	1	0	0	0	0	0	0	1	0	13565	1072	37	1	1692	1	RPGRIP1L	16	53682877	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	154755	53682877	36671876	3610	8078										
IRX3	79191	broad.mit.edu	37	chr16	54319319	54319319	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atggccagcatgatcttctcGcccttggtggggtaggggtt	15	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:54319319G>A	ENST00000329734.3	-	2	1186	c.474C>T	c.(472-474)ggC>ggT	p.G158G		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	158					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						TGATCTTCTCGCCCTTGGTGG	0.622																																					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.(472-474)ggC>ggT		iroquois homeobox 3							151	117	129					16																	54319319		2198	4298	6496	SO:0001819	synonymous_variant	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54319319G>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.474C>T	16.37:g.54319319G>A			Somatic					p.G158G	NM_024336.2	NP_077312.2	WXS	Illumina GAIIx	Phase_I	P78415	IRX3_HUMAN			2	1186	-			158					Q7Z4A4|Q7Z4A5|Q8IVC6	Silent	SNP	ENST00000329734.3	37	c.474C>T	CCDS10750.1																																																																																				0.622	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			40	101	0	0	0	1	0	40	101					A	54319319	G	A	54319319	2	1	48	1	0	0	0	0	0	0	0	1	7854	1074	38	1		1	IRX3	16	54319319	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	636442	54319319	36035434	3611	8079										
SLC6A2	6530	broad.mit.edu	37	chr16	55733485	55733485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagtggacaggttcagcaaCgacatccagcagatgatggg	15	8	1	2	rs573586347		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:55733485C>T	ENST00000379906.2	+	11	1764	c.1509C>T	c.(1507-1509)aaC>aaT	p.N503N	SLC6A2_ENST00000561820.1_Silent_p.N503N|SLC6A2_ENST00000219833.8_Silent_p.N503N|SLC6A2_ENST00000568943.1_Silent_p.N503N|SLC6A2_ENST00000414754.3_Silent_p.N503N|SLC6A2_ENST00000567238.1_Silent_p.N398N|SLC6A2_ENST00000566163.1_Silent_p.N458N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	503					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGTTCAGCAACGACATCCAGC	0.597																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1507-1509)aaC>aaT		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						198	144	162					16																	55733485		2198	4300	6498	SO:0001819	synonymous_variant	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55733485C>T		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1509C>T	16.37:g.55733485C>T			Somatic				SLC6A2_ENST00000566163.1_Silent_p.N458N|SLC6A2_ENST00000567238.1_Silent_p.N398N|SLC6A2_ENST00000414754.3_Silent_p.N503N|SLC6A2_ENST00000561820.1_Silent_p.N503N|SLC6A2_ENST00000219833.8_Silent_p.N503N|SLC6A2_ENST00000568943.1_Silent_p.N503N	p.N503N	NM_001043.3	NP_001034.1	WXS	Illumina GAIIx	Phase_I	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	11	1764	+			503					B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	37	c.1509C>T	CCDS10754.1																																																																																				0.597	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			22	45	0	0	0	1	0	22	45					T	55733485	C	T	55733485	2	4	48	1	0	0	0	0	0	0	0	1	14698	535	19	1		1	SLC6A2	16	55733485	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1414166	55733485	34621268	3612	8080										
GNAO1	2775	broad.mit.edu	37	chr16	56377721	56377721	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcttacatccaggcccagtaCgagagcaagaacaagtcagc	10	12	1	2	rs375972567	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:56377721C>T	ENST00000262493.6	+	6	1569				GNAO1_ENST00000262494.7_Silent_p.Y308Y	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						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)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AGGCCCAGTACGAGAGCAAGA	0.577													C|||	2	0.000399361	8e-04	0	5008	,	,		13972	0.001		0	False		,,,				2504	0					ENST00000262494.7																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(922-924)taC>taT		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O		C	,	3,4393	6.2+/-15.9	0,3,2195	173	110	131		,924	-1	1	16		131	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	GNAO1	NM_020988.2,NM_138736.2	,	0,4,6494	TT,TC,CC		0.0116,0.0682,0.0308	,	,308/355	56377721	4,12992	2198	4300	6498	SO:0001627	intron_variant	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.chr16:56377721C>T		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.723+6949C>T	16.37:g.56377721C>T			Somatic				GNAO1_ENST00000262493.6_Intron	p.Y308Y	NM_138736.2	NP_620073.2	WXS	Illumina GAIIx	Phase_I	P09471	GNAO_HUMAN			8	1184	+		all_neural(199;0.159)	308					P29777|Q8TD72|Q9UMV4	Silent	SNP	ENST00000262493.6	37	c.924C>T	CCDS10756.1																																																																																				0.577	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		13	26	0	0	0	1	0	13	26					T	56377721	C	T	56377721	1	4	48	0	1	0	0	0	0	0	0	0	6516	547	19	1		1	GNAO1	16	56377721	Intron	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	644236	56377721	33977032	3613	8081										
CETP	1071	broad.mit.edu	37	chr16	57009049	57009049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggggcttcaacaccaaccagGaaatcttccaagaggtaact	9	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57009049G>A	ENST00000566128.1	+	10	1039	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	CETP_ENST00000379780.2_Missense_Mutation_p.E263K|CETP_ENST00000200676.3_Missense_Mutation_p.E323K					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CACCAACCAGGAAATCTTCCA	0.527																																						ENST00000200676.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						c.(967-969)Gaa>Aaa		cholesteryl ester transfer protein, plasma							88	86	87					16																	57009049		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.chr16:57009049G>A	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.772G>A	16.37:g.57009049G>A	ENSP00000456276:p.Glu258Lys		Somatic				CETP_ENST00000379780.2_Missense_Mutation_p.E263K|CETP_ENST00000566128.1_Missense_Mutation_p.E258K	p.E323K	NM_000078.2	NP_000069.2	WXS	Illumina GAIIx	Phase_I	P11597	CETP_HUMAN			10	1097	+			323						Missense_Mutation	SNP	ENST00000566128.1	37	c.967G>A		.	.	.	.	.	.	.	.	.	.	G	13.07	2.126953	0.37533	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.09163	3.01;3.01	3.26	3.26	0.37387	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.788844	0.11350	U	0.573100	T	0.05868	0.0153	N	0.14661	0.345	0.09310	N	0.999997	B;B	0.18741	0.03;0.0	B;B	0.18561	0.022;0.004	T	0.32955	-0.9887	10	0.05833	T	0.94	-0.7495	10.3296	0.43814	0.0:0.0:1.0:0.0	.	263;323	P11597-2;P11597	.;CETP_HUMAN	K	323;263	ENSP00000200676:E323K;ENSP00000369106:E263K	ENSP00000200676:E323K	E	+	1	0	CETP	55566550	0.090000	0.21635	0.131000	0.22000	0.684000	0.39900	3.623000	0.54224	1.515000	0.48885	0.467000	0.42956	GAA		0.527	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1	NM_000078		24	32	0	0	0	1	0	24	32					A	57009049	G	A	57009049	3	1	48	1	0	0	0	0	1	0	0	0	3279	1175	41	3	1005	3	CETP	16	57009049	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	631328	57009049	33345704	3614	8082										
NLRC5	84166	broad.mit.edu	37	chr16	57113472	57113472	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccccagcctggtttcctgtaAgattgacaaccagactgcca	8	14	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57113472A>C	ENST00000262510.6	+	46	5477	c.5252A>C	c.(5251-5253)aAg>aCg	p.K1751T	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Missense_Mutation_p.K1722T|NLRC5_ENST00000539144.1_Missense_Mutation_p.K1722T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1751					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)				GTTTCCTGTAAGATTGACAAC	0.577																																						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.(5251-5253)aAg>aCg		NLR family, CARD domain containing 5							131	113	119					16																	57113472		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.chr16:57113472A>C	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.5252A>C	16.37:g.57113472A>C	ENSP00000262510:p.Lys1751Thr		Somatic				NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.K1722T|NLRC5_ENST00000308149.7_Missense_Mutation_p.K1722T	p.K1751T	NM_032206.4	NP_115582.4	WXS	Illumina GAIIx	Phase_I	Q86WI3	NLRC5_HUMAN			46	5477	+		all_neural(199;0.225)	1751					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.5252A>C	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.881647	0.33255	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.54866	0.55;0.55;0.55	5.56	3.29	0.37713	.	0.978663	0.08277	N	0.970523	T	0.44561	0.1299	L	0.58810	1.83	0.26780	N	0.969623	P	0.34462	0.454	B	0.32677	0.15	T	0.33675	-0.9859	10	0.19147	T	0.46	.	5.0599	0.14551	0.7214:0.1859:0.0927:0.0	.	1751	Q86WI3	NLRC5_HUMAN	T	1751;1722;1722	ENSP00000262510:K1751T;ENSP00000308886:K1722T;ENSP00000441727:K1722T	ENSP00000262510:K1751T	K	+	2	0	NLRC5	55670973	0.212000	0.23540	0.846000	0.33378	0.846000	0.48090	0.862000	0.27899	0.896000	0.36366	0.533000	0.62120	AAG		0.577	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		48	103	0	0	0	1	0	48	103					C	57113472	A	C	57113472	3	2	48	1	0	0	0	0	1	0	0	0	10479	72	3	4	5426	4	NLRC5	16	57113472	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	104423	57113472	33241281	3615	8083										
CPNE2	221184	broad.mit.edu	37	chr16	57155661	57155661	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actcgggcatcatcatcctgCgatcctgcaaggtgaaccag	10	13	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57155661C>T	ENST00000535318.2	+	10	1217	c.856C>T	c.(856-858)Cga>Tga	p.R286*	CPNE2_ENST00000537605.1_Nonsense_Mutation_p.R184*|CPNE2_ENST00000565874.1_Nonsense_Mutation_p.R286*|CPNE2_ENST00000290776.8_Nonsense_Mutation_p.R286*			Q96FN4	CPNE2_HUMAN	copine II	286						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CATCATCCTGCGATCCTGCAA	0.547																																						ENST00000535318.2																			0				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21						c.(856-858)Cga>Tga		copine II							100	87	91					16																	57155661		2198	4300	6498	SO:0001587	stop_gained	221184							g.chr16:57155661C>T		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.856C>T	16.37:g.57155661C>T	ENSP00000439018:p.Arg286*		Somatic				CPNE2_ENST00000537605.1_Nonsense_Mutation_p.R184*|CPNE2_ENST00000565874.1_Nonsense_Mutation_p.R286*|CPNE2_ENST00000290776.8_Nonsense_Mutation_p.R286*	p.R286*			WXS	Illumina GAIIx	Phase_I	Q96FN4	CPNE2_HUMAN			10	1217	+		all_neural(199;0.224)	286					Q68D19|Q719H8|Q86XP9	Nonsense_Mutation	SNP	ENST00000535318.2	37	c.856C>T	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764578	0.89932	.	.	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	.	.	.	5.14	0.825	0.18824	.	0.256739	0.30501	N	0.009481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-14.1139	6.5582	0.22471	0.5331:0.3174:0.0:0.1495	.	.	.	.	X	286;184;286	.	ENSP00000290776:R286X	R	+	1	2	CPNE2	55713162	1.000000	0.71417	0.034000	0.17996	0.037000	0.13140	2.272000	0.43373	-0.071000	0.12886	-0.261000	0.10672	CGA		0.547	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		16	119	0	0	0	1	0	16	119					T	57155661	C	T	57155661	4	4	48	1	0	0	0	0	0	1	0	0	3814	760	27	1	886	1	CPNE2	16	57155661	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	42189	57155661	33199092	3616	8084										
CIAPIN1	57019	broad.mit.edu	37	chr16	57466419	57466419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catgctgtcgtcctccatatCgttggctgagagggtccaca	11	12	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57466419C>T	ENST00000569979.1	-	5	656	c.610G>A	c.(610-612)Gat>Aat	p.D204N	CIAPIN1_ENST00000568940.1_Missense_Mutation_p.D204N|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.D177N|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.D204N|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000394391.4_Missense_Mutation_p.D204N|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.D191N					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCCTCCATATCGTTGGCTGAG	0.488																																						ENST00000394391.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(610-612)Gat>Aat		cytokine induced apoptosis inhibitor 1							92	91	91					16																	57466419		1995	4186	6181	SO:0001583	missense	57019				anti-apoptosis|apoptosis	cytoplasm|nucleolus		g.chr16:57466419C>T	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.610G>A	16.37:g.57466419C>T	ENSP00000458000:p.Asp204Asn		Somatic				CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.D191N|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.D204N|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.D204N|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.D204N|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.D177N	p.D204N	NM_020313.2	NP_064709.2	WXS	Illumina GAIIx	Phase_I	Q6FI81	CPIN1_HUMAN			6	851	-			204						Missense_Mutation	SNP	ENST00000569979.1	37	c.610G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.550299	0.96501	.	.	ENSG00000005194	ENST00000394391	T	0.37235	1.21	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	M	0.64630	1.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.55328	-0.8158	10	0.46703	T	0.11	-15.8462	19.1493	0.93481	0.0:1.0:0.0:0.0	.	191;204	Q6FI81-3;Q6FI81	.;CPIN1_HUMAN	N	204	ENSP00000377914:D204N	ENSP00000377914:D204N	D	-	1	0	CIAPIN1	56023920	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	6.886000	0.75611	2.835000	0.97688	0.650000	0.86243	GAT		0.488	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432580.1	NM_020313		28	60	0	0	0	1	0	28	60					T	57466419	C	T	57466419	3	4	48	1	0	0	0	0	1	0	0	0	3421	884	31	1	344	1	CIAPIN1	16	57466419	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	310758	57466419	32888334	3617	8085										
CNGB1	1258	broad.mit.edu	37	chr16	57950065	57950065	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agacttcaggtagttatttcGcatgtcctttttgtccgtct	8	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57950065G>A	ENST00000251102.8	-	22	2245	c.2185C>T	c.(2185-2187)Cga>Tga	p.R729*	CNGB1_ENST00000564448.1_Nonsense_Mutation_p.R723*	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	729					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						TAGTTATTTCGCATGTCCTTT	0.512																																					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.(2167-2169)Cga>Tga		cyclic nucleotide gated channel beta 1							131	129	130					16																	57950065		1951	4137	6088	SO:0001587	stop_gained	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57950065G>A	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.2185C>T	16.37:g.57950065G>A	ENSP00000251102:p.Arg729*		Somatic				CNGB1_ENST00000251102.8_Nonsense_Mutation_p.R729*	p.R723*			WXS	Illumina GAIIx	Phase_I	Q14028	CNGB1_HUMAN			22	2227	-			729					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Nonsense_Mutation	SNP	ENST00000251102.8	37	c.2167C>T	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	G	40	8.088751	0.98648	.	.	ENSG00000070729	ENST00000251102	.	.	.	5.14	1.77	0.24775	.	0.068062	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.673	0.51413	0.0:0.0:0.3667:0.6333	.	.	.	.	X	729	.	ENSP00000251102:R729X	R	-	1	2	CNGB1	56507566	1.000000	0.71417	0.945000	0.38365	0.944000	0.59088	1.057000	0.30492	0.683000	0.31428	0.655000	0.94253	CGA		0.512	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		39	64	0	0	0	1	0	39	64					A	57950065	G	A	57950065	4	1	48	1	0	0	0	0	0	1	0	0	3602	1095	38	1	1618	1	CNGB1	16	57950065	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	483646	57950065	32404688	3618	8086										
ZNF319	57567	broad.mit.edu	37	chr16	58031930	58031930	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcgccaggtcgtgaccacaCacgccacatttggggcctgg	13	14	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:58031930C>G	ENST00000299237.2	-	2	862	c.240G>C	c.(238-240)gtG>gtC	p.V80V	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	80					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						CGTGACCACACACGCCACATT	0.642																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(238-240)gtG>gtC		zinc finger protein 319							54	54	54					16																	58031930		2198	4300	6498	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58031930C>G	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.240G>C	16.37:g.58031930C>G			Somatic					p.V80V	NM_020807.1	NP_065858.1	WXS	Illumina GAIIx	Phase_I	Q9P2F9	ZN319_HUMAN			2	862	-			80					Q52LH8	Silent	SNP	ENST00000299237.2	37	c.240G>C	CCDS32462.1																																																																																				0.642	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			24	41	0	0	0	1	0	24	41					G	58031930	C	G	58031930	2	3	48	1	0	0	0	0	0	0	0	1	17852	465	17	5		5	ZNF319	16	58031930	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	81865	58031930	32322823	3619	8087										
CNOT1	23019	broad.mit.edu	37	chr16	58589167	58589167	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccacttacctgtttttaaatCtatctagtgcagcaatcccg	5	12	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:58589167C>A	ENST00000317147.5	-	21	3211	c.2879G>T	c.(2878-2880)aGa>aTa	p.R960I	CNOT1_ENST00000569240.1_Missense_Mutation_p.R955I|CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Missense_Mutation_p.R960I	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	960	Interaction with ZFP36.				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)		GTTTTTAAATCTATCTAGTGC	0.468																																						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.(2878-2880)aGa>aTa		CCR4-NOT transcription complex, subunit 1							82	82	82					16																	58589167		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.chr16:58589167C>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.2879G>T	16.37:g.58589167C>A	ENSP00000320949:p.Arg960Ile		Somatic				CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.R955I|CNOT1_ENST00000441024.2_Missense_Mutation_p.R960I	p.R960I	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)	21	3211	-			960					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.2879G>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	34	5.391251	0.95988	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.50001	0.8;0.76	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.74673	0.3747	M	0.87180	2.865	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.997	D;D;D	0.74674	0.983;0.96;0.984	T	0.77236	-0.2662	10	0.66056	D	0.02	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	960;960;955	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	I	960;389;955;960	ENSP00000320949:R960I;ENSP00000413113:R960I	ENSP00000320949:R960I	R	-	2	0	CNOT1	57146668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.880000	0.98712	0.650000	0.86243	AGA		0.468	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		34	41	1	0	2.68265e-12	1	3.37613e-12	34	41					A	58589167	C	A	58589167	3	1	48	1	0	0	0	0	1	0	0	0	3619	913	32	2	4589	2	CNOT1	16	58589167	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	557237	58589167	31765586	3620	8088										
CDH8	1006	broad.mit.edu	37	chr16	61858924	61858924	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaattaacttactctgtgcaAattttggaggattgtcatta	7	5	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:61858924A>G	ENST00000577390.1	-	5	1781	c.827T>C	c.(826-828)tTt>tCt	p.F276S	CDH8_ENST00000584337.1_Missense_Mutation_p.F276S|CDH8_ENST00000299345.6_Missense_Mutation_p.F276S|CDH8_ENST00000577730.1_Missense_Mutation_p.F276S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	276	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)		ACTCTGTGCAAATTTTGGAGG	0.373																																						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.(826-828)tTt>tCt		cadherin 8, type 2							94	90	91					16																	61858924		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.chr16:61858924A>G	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.827T>C	16.37:g.61858924A>G	ENSP00000462701:p.Phe276Ser		Somatic				CDH8_ENST00000577730.1_Missense_Mutation_p.F276S|CDH8_ENST00000584337.1_Missense_Mutation_p.F276S|CDH8_ENST00000299345.6_Missense_Mutation_p.F276S	p.F276S	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)	5	1781	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	276			Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.827T>C	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.908190	0.92107	.	.	ENSG00000150394	ENST00000299345	T	0.03358	3.96	6.02	6.02	0.97574	Cadherin (3);Cadherin-like (1);	0.090275	0.85682	D	0.000000	T	0.34454	0.0898	H	0.98525	4.255	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.957	T	0.58880	-0.7558	10	0.87932	D	0	.	16.542	0.84395	1.0:0.0:0.0:0.0	.	92;276	Q3LID3;P55286	.;CADH8_HUMAN	S	276	ENSP00000299345:F276S	ENSP00000299345:F276S	F	-	2	0	CDH8	60416425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.281000	0.95811	2.304000	0.77564	0.528000	0.53228	TTT		0.373	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		14	28	0	0	0	1	0	14	28					G	61858924	A	G	61858924	3	3	48	1	0	0	0	0	1	0	0	0	3118	14	1	4	1604	4	CDH8	16	61858924	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	3269757	61858924	28495829	3621	8089										
CDH11	1009	broad.mit.edu	37	chr16	65016055	65016055	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggatgtaacttggggccaaGaacatagggggctcatcagc	14	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:65016055G>T	ENST00000268603.4	-	8	1764	c.1149C>A	c.(1147-1149)ttC>ttA	p.F383L	CDH11_ENST00000566827.1_Missense_Mutation_p.F257L|CDH11_ENST00000394156.3_Missense_Mutation_p.F383L	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	383	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|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)		TTGGGGCCAAGAACATAGGGG	0.532			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.(1147-1149)ttC>ttA		cadherin 11, type 2, OB-cadherin (osteoblast)							159	133	142					16																	65016055		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.chr16:65016055G>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.1149C>A	16.37:g.65016055G>T	ENSP00000268603:p.Phe383Leu	TSP Lung(24;0.17)	Somatic				CDH11_ENST00000566827.1_Missense_Mutation_p.F257L|CDH11_ENST00000268603.4_Missense_Mutation_p.F383L	p.F383L			WXS	Illumina GAIIx	Phase_I	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	8	1602	-		Ovarian(137;0.0973)	383			Cadherin 3.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1149C>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713873	0.68730	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.74106	-0.81;-0.81	5.76	2.17	0.27698	Cadherin (2);Cadherin-like (1);	0.044063	0.85682	D	0.000000	D	0.82719	0.5098	H	0.94423	3.535	0.46416	D	0.99903	P;P	0.46706	0.802;0.883	B;P	0.50860	0.337;0.652	T	0.82450	-0.0451	10	0.87932	D	0	.	5.5423	0.17045	0.5266:0.0:0.4734:0.0	.	383;383	P55287-2;P55287	.;CAD11_HUMAN	L	383;383;366	ENSP00000268603:F383L;ENSP00000377711:F383L	ENSP00000268603:F383L	F	-	3	2	CDH11	63573556	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.339000	0.43965	0.833000	0.34828	0.655000	0.94253	TTC		0.532	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		41	53	1	0	6.2361e-21	1	8.5756e-21	41	53					T	65016055	G	T	65016055	3	4	48	1	0	0	0	0	1	0	0	0	3099	933	33	2	1265	2	CDH11	16	65016055	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3157131	65016055	25338698	3622	8090										
TK2	7084	broad.mit.edu	37	chr16	66565347	66565347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgtagcgtaagaccccagCgagaggcatcgtggtacatc	12	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:66565347C>T	ENST00000451102.2	-	5	661	c.311G>A	c.(310-312)cGc>cAc	p.R104H	TK2_ENST00000299697.7_Missense_Mutation_p.R146H|TK2_ENST00000527284.1_Missense_Mutation_p.R73H|TK2_ENST00000525974.1_Missense_Mutation_p.R7H|TK2_ENST00000545043.2_Missense_Mutation_p.R79H|TK2_ENST00000563369.2_Missense_Mutation_p.R7H|TK2_ENST00000564917.1_Missense_Mutation_p.R104H|TK2_ENST00000544898.1_Missense_Mutation_p.R55H|TK2_ENST00000417693.3_Missense_Mutation_p.R86H|TK2_ENST00000527800.1_Missense_Mutation_p.R7H			O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	104					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|DNA replication (GO:0006260)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|thymidine kinase activity (GO:0004797)			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		AAGACCCCAGCGAGAGGCATC	0.522																																						ENST00000299697.7																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(436-438)cGc>cAc		thymidine kinase 2, mitochondrial							130	92	105					16																	66565347		2201	4300	6501	SO:0001583	missense	7084				pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity	g.chr16:66565347C>T		CCDS10805.1, CCDS10805.2, CCDS54016.1, CCDS54017.1, CCDS54018.1, CCDS61955.1	16q22-q23.1	2012-10-02			ENSG00000166548	ENSG00000166548	2.7.1.21		11831	protein-coding gene	gene with protein product		188250					Standard	NM_004614		Approved		uc002eos.3	O00142	OTTHUMG00000137499	ENST00000451102.2:c.311G>A	16.37:g.66565347C>T	ENSP00000414334:p.Arg104His		Somatic				TK2_ENST00000544898.1_Missense_Mutation_p.R55H|TK2_ENST00000417693.3_Missense_Mutation_p.R86H|TK2_ENST00000563369.2_Missense_Mutation_p.R7H|TK2_ENST00000525974.1_Missense_Mutation_p.R7H|TK2_ENST00000564917.1_Missense_Mutation_p.R104H|TK2_ENST00000527800.1_Missense_Mutation_p.R7H|TK2_ENST00000451102.2_Missense_Mutation_p.R104H|TK2_ENST00000545043.2_Missense_Mutation_p.R79H|TK2_ENST00000527284.1_Missense_Mutation_p.R73H	p.R146H	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	WXS	Illumina GAIIx	Phase_I	O00142	KITM_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)	5	661	-		Ovarian(137;0.0563)	104					B4DGJ7|B4DZK7|B7ZAB1|E9PH08|O15238	Missense_Mutation	SNP	ENST00000451102.2	37	c.437G>A	CCDS10805.2	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376437	0.61735	.	.	ENSG00000166548	ENST00000299697;ENST00000417693;ENST00000545043;ENST00000451102;ENST00000527800;ENST00000527284;ENST00000544898;ENST00000525974	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	5.95	2.94	0.34122	.	0.119814	0.56097	D	0.000038	D	0.96790	0.8952	M	0.86864	2.845	0.26138	N	0.980325	D;D;D;D;D;D	0.89917	1.0;1.0;0.991;1.0;1.0;0.991	D;D;P;D;D;P	0.76575	0.988;0.977;0.823;0.915;0.988;0.823	D	0.91268	0.5042	10	0.87932	D	0	-5.5973	8.5644	0.33531	0.0:0.7558:0.0:0.2442	.	146;104;55;68;146;73	Q8IZR3;O00142;F5GYK4;A4IF54;E5KNQ5;O00142-2	.;KITM_HUMAN;.;.;.;.	H	146;86;79;104;7;73;55;7	ENSP00000299697:R146H;ENSP00000407469:R86H;ENSP00000438143:R79H;ENSP00000414334:R104H;ENSP00000433770:R7H;ENSP00000435312:R73H;ENSP00000440898:R55H;ENSP00000434594:R7H	ENSP00000299697:R146H	R	-	2	0	TK2	65122848	0.902000	0.30710	0.971000	0.41717	0.425000	0.31504	3.795000	0.55499	0.865000	0.35603	0.491000	0.48974	CGC		0.522	TK2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268806.4			10	52	0	0	0	1	0	10	52					T	66565347	C	T	66565347	3	4	48	1	0	0	0	0	1	0	0	0	15948	768	27	1	510	1	TK2	16	66565347	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1549292	66565347	23789406	3623	8091										
C16orf70	80262	broad.mit.edu	37	chr16	67168075	67168075	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgacctttgtttgcagcccaAttttgcccatggcctggctt	9	12	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67168075A>G	ENST00000219139.3	+	7	643	c.455A>G	c.(454-456)aAt>aGt	p.N152S	C16orf70_ENST00000569600.1_Missense_Mutation_p.N152S|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	152										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)		TTGCAGCCCAATTTTGCCCAT	0.493																																						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.(454-456)aAt>aGt		chromosome 16 open reading frame 70							105	97	99					16																	67168075		2200	4300	6500	SO:0001583	missense	80262							g.chr16:67168075A>G	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.455A>G	16.37:g.67168075A>G	ENSP00000219139:p.Asn152Ser		Somatic				C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.N152S	p.N152S	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)	7	643	+		Ovarian(137;0.192)	152					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.455A>G	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.236482	0.39498	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.98	5.98	0.97165	.	0.050947	0.85682	D	0.000000	T	0.47691	0.1459	N	0.10874	0.06	0.52501	D	0.999958	D;B	0.60575	0.988;0.002	P;B	0.57911	0.829;0.006	T	0.45527	-0.9255	9	0.20046	T	0.44	-5.4749	14.4302	0.67243	1.0:0.0:0.0:0.0	.	227;152	Q9BSU1-2;Q9BSU1	.;CP070_HUMAN	S	152	.	ENSP00000219139:N152S	N	+	2	0	C16orf70	65725576	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.674000	0.68117	2.288000	0.76882	0.528000	0.53228	AAT		0.493	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		27	48	0	0	0	1	0	27	48					G	67168075	A	G	67168075	3	3	48	1	0	0	0	0	1	0	0	0	1831	101	4	4	481	4	C16orf70	16	67168075	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	602728	67168075	23186678	3624	8092										
TMEM208	29100	broad.mit.edu	37	chr16	67262716	67262716	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaggcaccttaaggatgtgAtcctactgacagccatcgtg	10	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67262716A>G	ENST00000304800.9	+	5	422	c.316A>G	c.(316-318)Atc>Gtc	p.I106V	LRRC29_ENST00000409509.1_5'Flank|LRRC29_ENST00000341546.3_5'Flank|TMEM208_ENST00000565201.1_Missense_Mutation_p.I106V|LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000393992.1_5'Flank|TMEM208_ENST00000563953.1_Missense_Mutation_p.I36V|TMEM208_ENST00000563426.1_3'UTR|AC040160.1_ENST00000454102.2_5'Flank	NM_014187.3	NP_054906.2	Q9BTX3	TM208_HUMAN	transmembrane protein 208	106					autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TAAGGATGTGATCCTACTGAC	0.527																																						ENST00000563953.1																			0				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(106-108)Atc>Gtc		transmembrane protein 208							100	103	102					16																	67262716		2002	4169	6171	SO:0001583	missense	29100					integral to membrane		g.chr16:67262716A>G		CCDS45511.1	16q22.1	2008-05-02			ENSG00000168701	ENSG00000168701			25015	protein-coding gene	gene with protein product						11042152	Standard	NM_014187		Approved	HSPC171	uc002esi.2	Q9BTX3		ENST00000304800.9:c.316A>G	16.37:g.67262716A>G	ENSP00000305892:p.Ile106Val		Somatic				TMEM208_ENST00000563426.1_3'UTR|TMEM208_ENST00000565201.1_Missense_Mutation_p.I106V|TMEM208_ENST00000304800.9_Missense_Mutation_p.I106V	p.I36V			WXS	Illumina GAIIx	Phase_I	Q9BTX3	TM208_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	5	532	+		Ovarian(137;0.0563)	106					Q05CT0|Q96D25|Q9NZZ7	Missense_Mutation	SNP	ENST00000304800.9	37	c.106A>G	CCDS45511.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.208687	0.39003	.	.	ENSG00000168701	ENST00000304800	T	0.35048	1.33	5.38	5.38	0.77491	.	0.456357	0.23543	N	0.047058	T	0.24699	0.0599	L	0.37697	1.125	0.54753	D	0.999986	B	0.32409	0.37	B	0.26310	0.068	T	0.07271	-1.0781	10	0.25751	T	0.34	.	8.8508	0.35199	0.9156:0.0:0.0844:0.0	.	106	Q9BTX3	TM208_HUMAN	V	106	ENSP00000305892:I106V	ENSP00000305892:I106V	I	+	1	0	TMEM208	65820217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.427000	0.66483	2.040000	0.60383	0.459000	0.35465	ATC		0.527	TMEM208-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421976.2	NM_014187		35	68	0	0	0	1	0	35	68					G	67262716	A	G	67262716	3	3	48	1	0	0	0	0	1	0	0	0	16148	333	12	4	334	4	TMEM208	16	67262716	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	94641	67262716	23092037	3625	8093										
KCTD19	146212	broad.mit.edu	37	chr16	67329205	67329205	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acagtttgccaagtctcaggAagttgagaatgtgtcggaac	12	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67329205A>G	ENST00000304372.5	-	9	1407	c.1352T>C	c.(1351-1353)tTc>tCc	p.F451S		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	451	BTB 2.				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)		AAGTCTCAGGAAGTTGAGAAT	0.478																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(1351-1353)tTc>tCc		potassium channel tetramerization domain containing 19							76	70	72					16																	67329205		1952	4143	6095	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67329205A>G	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.1352T>C	16.37:g.67329205A>G	ENSP00000305702:p.Phe451Ser		Somatic					p.F451S	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)	9	1407	-		Ovarian(137;0.192)	451			BTB 2.		B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.1352T>C	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.327897	0.81690	.	.	ENSG00000168676	ENST00000304372	T	0.58506	0.33	5.5	5.5	0.81552	BTB/POZ fold (2);	0.000000	0.64402	D	0.000003	T	0.78155	0.4239	M	0.87456	2.885	0.39154	D	0.962282	D	0.76494	0.999	D	0.75484	0.986	D	0.83514	0.0082	10	0.87932	D	0	-19.9329	12.9874	0.58599	1.0:0.0:0.0:0.0	.	451	Q17RG1	KCD19_HUMAN	S	451	ENSP00000305702:F451S	ENSP00000305702:F451S	F	-	2	0	KCTD19	65886706	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.064000	0.71169	2.102000	0.63906	0.533000	0.62120	TTC		0.478	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		19	23	0	0	0	1	0	19	23					G	67329205	A	G	67329205	3	3	48	1	0	0	0	0	1	0	0	0	8115	246	9	4	1460	4	KCTD19	16	67329205	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	66489	67329205	23025548	3626	8094										
KCTD19	146212	broad.mit.edu	37	chr16	67335823	67335823	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttctgtgagcgaagaaaatTcacttgaaaaacaaagggga	10	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67335823T>C	ENST00000304372.5	-	5	701	c.646A>G	c.(646-648)Aat>Gat	p.N216D	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	216					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)		CGAAGAAAATTCACTTGAAAA	0.403																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(646-648)Aat>Gat		potassium channel tetramerization domain containing 19							77	76	77					16																	67335823		1829	4090	5919	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67335823T>C	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.646A>G	16.37:g.67335823T>C	ENSP00000305702:p.Asn216Asp		Somatic				KCTD19_ENST00000562860.1_5'UTR	p.N216D	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)	5	701	-		Ovarian(137;0.192)	216					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.646A>G	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419288	0.83559	.	.	ENSG00000168676	ENST00000304372	T	0.61742	0.08	6.07	6.07	0.98685	BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.63674	0.2531	N	0.24115	0.695	0.36759	D	0.88318	D	0.69078	0.997	D	0.75020	0.985	T	0.72184	-0.4367	10	0.72032	D	0.01	-16.5261	14.002	0.64439	0.0:0.0:0.0:1.0	.	216	Q17RG1	KCD19_HUMAN	D	216	ENSP00000305702:N216D	ENSP00000305702:N216D	N	-	1	0	KCTD19	65893324	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.870000	0.63035	2.326000	0.78906	0.533000	0.62120	AAT		0.403	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		26	76	0	0	0	1	0	26	76					C	67335823	T	C	67335823	3	2	48	1	0	0	0	0	1	0	0	0	8115	1783	62	4	2182	4	KCTD19	16	67335823	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	6618	67335823	23018930	3627	8095										
KCTD19	146212	broad.mit.edu	37	chr16	67338374	67338374	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgagggtttgctaatacacTtccatgtacgccagtagttc	9	10	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67338374T>G	ENST00000304372.5	-	3	456	c.401A>C	c.(400-402)aAg>aCg	p.K134T	KCTD19_ENST00000562860.1_Intron	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	134					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)		GCTAATACACTTCCATGTACG	0.488																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(400-402)aAg>aCg		potassium channel tetramerization domain containing 19							167	162	164					16																	67338374		1959	4151	6110	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67338374T>G	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.401A>C	16.37:g.67338374T>G	ENSP00000305702:p.Lys134Thr		Somatic				KCTD19_ENST00000562860.1_Intron	p.K134T	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)	3	456	-		Ovarian(137;0.192)	134					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.401A>C	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.725453	0.48833	.	.	ENSG00000168676	ENST00000304372	T	0.69561	-0.41	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	T	0.71039	0.3293	N	0.24115	0.695	0.32830	D	0.503956	D	0.76494	0.999	D	0.80764	0.994	T	0.78713	-0.2097	10	0.66056	D	0.02	-16.6317	13.6286	0.62181	0.0:0.0:0.0:1.0	.	134	Q17RG1	KCD19_HUMAN	T	134	ENSP00000305702:K134T	ENSP00000305702:K134T	K	-	2	0	KCTD19	65895875	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	3.488000	0.53229	2.233000	0.73108	0.533000	0.62120	AAG		0.488	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		38	70	0	0	0	1	0	38	70					G	67338374	T	G	67338374	3	3	48	1	0	0	0	0	1	0	0	0	8115	1609	56	4	2435	4	KCTD19	16	67338374	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2551	67338374	23016379	3628	8096										
CTCF	10664	broad.mit.edu	37	chr16	67645132	67645132	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgctaccacttcagtagaaGaacttcagggggcttatgaa	10	8	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67645132G>T	ENST00000264010.4	+	3	841	c.397G>T	c.(397-399)Gaa>Taa	p.E133*	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	133					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TTCAGTAGAAGAACTTCAGGG	0.458																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(397-399)Gaa>Taa		CCCTC-binding factor (zinc finger protein)							102	108	106					16																	67645132		2198	4300	6498	SO:0001587	stop_gained	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67645132G>T	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.397G>T	16.37:g.67645132G>T	ENSP00000264010:p.Glu133*		Somatic				CTCF_ENST00000401394.1_Intron	p.E133*	NM_006565.3	NP_006556.1	WXS	Illumina GAIIx	Phase_I	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	3	841	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	133					B5MC38|Q53XI7|Q59EL8	Nonsense_Mutation	SNP	ENST00000264010.4	37	c.397G>T	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	38	6.780491	0.97833	.	.	ENSG00000102974	ENST00000264010	.	.	.	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-4.0223	19.3331	0.94299	0.0:0.0:1.0:0.0	.	.	.	.	X	133	.	ENSP00000264010:E133X	E	+	1	0	CTCF	66202633	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.327000	0.79147	2.802000	0.96397	0.655000	0.94253	GAA		0.458	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		28	66	1	0	3.57733e-08	1	4.18982e-08	28	66					T	67645132	G	T	67645132	4	4	48	1	0	0	0	0	0	1	0	0	4002	943	33	2	399	2	CTCF	16	67645132	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	306758	67645132	22709621	3629	8097										
RLTPR	146206	broad.mit.edu	37	chr16	67681792	67681792	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggccaccaatgccgccttCgactccaccctgacccacct	6	21	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67681792C>T	ENST00000334583.6	+	13	1330	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	RLTPR_ENST00000545661.1_Silent_p.F334F	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	334					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.F334F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ATGCCGCCTTCGACTCCACCC	0.672																																						ENST00000334583.6																			1	Substitution - coding silent(1)	p.F334F(1)	upper_aerodigestive_tract(1)	breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(1000-1002)ttC>ttT		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							19	22	21					16																	67681792		1927	4133	6060	SO:0001819	synonymous_variant	146206							g.chr16:67681792C>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.1002C>T	16.37:g.67681792C>T			Somatic				RLTPR_ENST00000545661.1_Silent_p.F334F	p.F334F	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)	13	1330	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	334					B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.1002C>T	CCDS45513.1																																																																																				0.672	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		9	18	0	0	0	1	0	9	18					T	67681792	C	T	67681792	2	4	48	1	0	0	0	0	0	0	0	1	13409	883	31	1		1	RLTPR	16	67681792	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	36660	67681792	22672961	3630	8098										
NUTF2	10204	broad.mit.edu	37	chr16	67899124	67899124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgatagaacccaactaggcGcaatttacgtaagtttccag	8	9	0	2	rs146730920		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67899124G>A	ENST00000219169.4	+	2	374	c.91G>A	c.(91-93)Gca>Aca	p.A31T	NUTF2_ENST00000569436.2_Missense_Mutation_p.A31T|NUTF2_ENST00000568396.2_Missense_Mutation_p.A31T	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	31	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	transporter activity (GO:0005215)	p.A31P(1)		kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		CCAACTAGGCGCAATTTACGT	0.468																																						ENST00000219169.4																			1	Substitution - Missense(1)	p.A31P(1)	lung(1)	kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(91-93)Gca>Aca		nuclear transport factor 2							73	64	67					16																	67899124		2198	4300	6498	SO:0001583	missense	10204				protein transport	cytosol|nuclear pore	protein binding|transporter activity	g.chr16:67899124G>A	U43939	CCDS10848.1	16q22.1	2008-02-05			ENSG00000102898	ENSG00000102898			13722	protein-coding gene	gene with protein product		605813				7744965, 3380696	Standard	NM_005796		Approved	NTF2, PP15	uc002eup.3	P61970	OTTHUMG00000137540	ENST00000219169.4:c.91G>A	16.37:g.67899124G>A	ENSP00000219169:p.Ala31Thr		Somatic				NUTF2_ENST00000569436.2_Missense_Mutation_p.A31T|NUTF2_ENST00000568396.2_Missense_Mutation_p.A31T	p.A31T	NM_005796.1	NP_005787.1	WXS	Illumina GAIIx	Phase_I	P61970	NTF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)	2	374	+		Ovarian(137;0.0563)	31			NTF2.		B2R4G7|P13662|Q6IB67	Missense_Mutation	SNP	ENST00000219169.4	37	c.91G>A	CCDS10848.1	.	.	.	.	.	.	.	.	.	.	G	6.933	0.541802	0.13250	.	.	ENSG00000102898	ENST00000219169	.	.	.	5.42	5.42	0.78866	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.328672	0.32244	N	0.006363	T	0.23210	0.0561	N	0.16307	0.4	0.33007	D	0.527003	P;B	0.49635	0.926;0.002	B;B	0.34536	0.185;0.001	T	0.22661	-1.0210	9	0.09338	T	0.73	0.2507	18.0088	0.89217	0.0:0.0:1.0:0.0	.	31;31	B4DEQ2;P61970	.;NTF2_HUMAN	T	31	.	ENSP00000219169:A31T	A	+	1	0	NUTF2	66456625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.913000	0.48790	2.557000	0.86248	0.555000	0.69702	GCA		0.468	NUTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268871.1			14	28	0	0	0	1	0	14	28					A	67899124	G	A	67899124	3	1	48	1	0	0	0	0	1	0	0	0	10788	1087	38	1	93	1	NUTF2	16	67899124	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	217332	67899124	22455629	3631	8099										
SLC12A4	6560	broad.mit.edu	37	chr16	67991677	67991677	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgttggtggcgatggcactcAtggagatggccgtcagcagg	17	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67991677A>G	ENST00000316341.3	-	5	652	c.512T>C	c.(511-513)aTg>aCg	p.M171T	SLC12A4_ENST00000576616.1_Missense_Mutation_p.M171T|SLC12A4_ENST00000422611.2_Missense_Mutation_p.M173T|SLC12A4_ENST00000572037.1_Missense_Mutation_p.M123T|SLC12A4_ENST00000338335.3_Missense_Mutation_p.M171T|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000541864.2_Missense_Mutation_p.M140T|SLC12A4_ENST00000537830.2_Missense_Mutation_p.M165T	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	171					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)	GATGGCACTCATGGAGATGGC	0.647																																						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.(517-519)aTg>aCg		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						109	95	99					16																	67991677		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.chr16:67991677A>G		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.512T>C	16.37:g.67991677A>G	ENSP00000318557:p.Met171Thr		Somatic				SLC12A4_ENST00000572037.1_Missense_Mutation_p.M123T|SLC12A4_ENST00000576616.1_Missense_Mutation_p.M171T|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000316341.3_Missense_Mutation_p.M171T|SLC12A4_ENST00000541864.2_Missense_Mutation_p.M140T|SLC12A4_ENST00000537830.2_Missense_Mutation_p.M165T|SLC12A4_ENST00000338335.3_Missense_Mutation_p.M171T	p.M173T	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)	4	557	-		Ovarian(137;0.192)	171					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.518T>C	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789420	0.70337	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02;-5.02	4.97	4.97	0.65823	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.71871	2.18	0.80722	D	1	P;D;P;P;D;P;D	0.61697	0.833;0.99;0.913;0.929;0.987;0.809;0.99	P;D;B;P;P;P;D	0.64877	0.69;0.93;0.431;0.566;0.848;0.615;0.93	D	0.98498	1.0613	10	0.31617	T	0.26	.	14.9501	0.71067	1.0:0.0:0.0:0.0	.	173;171;140;123;165;171;171	F5H3C0;B4DF30;F5H066;B4DF69;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;.;S12A4_HUMAN	T	173;140;165;171;171	ENSP00000395983:M173T;ENSP00000438334:M140T;ENSP00000445962:M165T;ENSP00000343374:M171T;ENSP00000318557:M171T	ENSP00000318557:M171T	M	-	2	0	SLC12A4	66549178	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	9.287000	0.95975	1.998000	0.58463	0.482000	0.46254	ATG		0.647	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		18	29	0	0	0	1	0	18	29					G	67991677	A	G	67991677	3	3	48	1	0	0	0	0	1	0	0	0	14400	217	8	4	2825	4	SLC12A4	16	67991677	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	92553	67991677	22363076	3632	8100										
ZFP90	146198	broad.mit.edu	37	chr16	68598587	68598587	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacaccagagaattcatactCgaaataaactctaggaaccg	6	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:68598587C>T	ENST00000570495.1	+	5	2189	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*	ZFP90_ENST00000563169.2_Nonsense_Mutation_p.R633*|ZFP90_ENST00000398253.2_Nonsense_Mutation_p.R633*			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	633					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	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)	p.R633R(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AATTCATACTCGAAATAAACT	0.378																																						ENST00000570495.1																			1	Substitution - coding silent(1)	p.R633R(1)	lung(1)	breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1897-1899)Cga>Tga		ZFP90 zinc finger protein							58	61	60					16																	68598587		1978	4188	6166	SO:0001587	stop_gained	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598587C>T	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"Zinc fingers, C2H2-type", "-"	23329	protein-coding gene	gene with protein product		609451	"zinc finger protein 90 homolog (mouse)"			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1897C>T	16.37:g.68598587C>T	ENSP00000460547:p.Arg633*		Somatic				RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Nonsense_Mutation_p.R633*|ZFP90_ENST00000563169.2_Nonsense_Mutation_p.R633*	p.R633*			WXS	Illumina GAIIx	Phase_I	Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	2189	+		Ovarian(137;0.192)	633					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Nonsense_Mutation	SNP	ENST00000570495.1	37	c.1897C>T	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232419	0.95207	.	.	ENSG00000184939	ENST00000398253	.	.	.	5.87	0.847	0.18961	.	.	.	.	.	.	.	.	.	.	.	0.24711	N	0.993209	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-8.1053	2.2525	0.04047	0.3032:0.347:0.2538:0.096	.	.	.	.	X	633	.	ENSP00000381304:R633X	R	+	1	2	ZFP90	67156088	0.997000	0.39634	0.704000	0.30370	0.596000	0.36781	2.674000	0.46867	0.734000	0.32515	0.484000	0.47621	CGA		0.378	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		28	34	0	0	0	1	0	28	34					T	68598587	C	T	68598587	4	4	48	1	0	0	0	0	0	1	0	0	17669	876	31	1	1911	1	ZFP90	16	68598587	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	606910	68598587	21756166	3633	8101										
TMCO7	79613	broad.mit.edu	37	chr16	68914501	68914501	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctattttggtgacagaagaaGaacttagtagatgcattgag	11	4	0	6	rs372191462		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:68914501G>T	ENST00000261778.1	+	7	1357	c.1345G>T	c.(1345-1347)Gaa>Taa	p.E449*		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	449						integral component of membrane (GO:0016021)											GACAGAAGAAGAACTTAGTAG	0.303																																						ENST00000261778.1																			0											c.(1345-1347)Gaa>Taa		transport and golgi organization 6 homolog (Drosophila)		G	stop/GLU	0,3678		0,0,1839	198	187	190		1345	4.5	1	16		190	1,8183		0,1,4091	no	stop-gained	TMCO7	NM_024562.1		0,1,5930	TT,TG,GG		0.0122,0.0,0.0084		449/1095	68914501	1,11861	1839	4092	5931	SO:0001587	stop_gained	79613							g.chr16:68914501G>T		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.1345G>T	16.37:g.68914501G>T	ENSP00000261778:p.Glu449*		Somatic					p.E449*	NM_024562.1	NP_078838.1	WXS	Illumina GAIIx	Phase_I					7	1357	+								Q569F9|Q9H9K1	Nonsense_Mutation	SNP	ENST00000261778.1	37	c.1345G>T	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	37	6.371799	0.97511	0.0	1.22E-4	ENSG00000103047	ENST00000261778	.	.	.	5.43	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-4.523	13.4391	0.61101	0.0:0.1578:0.8422:0.0	.	.	.	.	X	449	.	ENSP00000261778:E449X	E	+	1	0	TMCO7	67472002	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.933000	0.48948	1.269000	0.44280	0.655000	0.94253	GAA		0.303	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		15	31	1	0	8.60227e-14	1	1.10942e-13	15	31					T	68914501	G	T	68914501	4	4	48	1	0	0	0	0	0	1	0	0	16016	943	33	2	1371	2	TMCO7	16	68914501	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	315914	68914501	21440252	3634	8102										
VAC14	55697	broad.mit.edu	37	chr16	70765467	70765467	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atctcttgagaaggttgatcAtgaacttataaaagtaagaa	8	4	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:70765467A>G	ENST00000261776.5	-	14	1852	c.1592T>C	c.(1591-1593)aTg>aCg	p.M531T		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	531					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				AAGGTTGATCATGAACTTATA	0.468																																						ENST00000261776.5																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1591-1593)aTg>aCg		Vac14 homolog (S. cerevisiae)							125	126	125					16																	70765467		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70765467A>G	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1592T>C	16.37:g.70765467A>G	ENSP00000261776:p.Met531Thr		Somatic					p.M531T	NM_018052.3	NP_060522.3	WXS	Illumina GAIIx	Phase_I	Q08AM6	VAC14_HUMAN			14	1852	-		Ovarian(137;0.0699)	531					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.1592T>C	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.217174	0.79352	.	.	ENSG00000103043	ENST00000261776	T	0.68331	-0.32	5.43	5.43	0.79202	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78717	0.4327	M	0.83384	2.64	0.80722	D	1	D;P	0.54207	0.965;0.949	P;P	0.53266	0.722;0.632	T	0.82900	-0.0228	10	0.87932	D	0	-39.0857	15.7766	0.78224	1.0:0.0:0.0:0.0	.	461;531	B4DMP4;Q08AM6	.;VAC14_HUMAN	T	531	ENSP00000261776:M531T	ENSP00000261776:M531T	M	-	2	0	VAC14	69322968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.754000	0.91642	2.198000	0.70561	0.533000	0.62120	ATG		0.468	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		41	69	0	0	0	1	0	41	69					G	70765467	A	G	70765467	3	3	48	1	0	0	0	0	1	0	0	0	17126	217	8	4	780	4	VAC14	16	70765467	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1850966	70765467	19589286	3635	8103										
VAC14	55697	broad.mit.edu	37	chr16	70817355	70817355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttactccactcacattttgcGaatctctttgccattgtcac	4	13	3	0	rs184943022		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:70817355G>A	ENST00000261776.5	-	6	957	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	233					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)	p.R233C(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CACATTTTGCGAATCTCTTTG	0.587													G|||	1	0.000199681	8e-04	0	5008	,	,		20851	0		0	False		,,,				2504	0					ENST00000261776.5																			1	Substitution - Missense(1)	p.R233C(1)	upper_aerodigestive_tract(1)	breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(697-699)Cgc>Tgc		Vac14 homolog (S. cerevisiae)							69	68	69					16																	70817355		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70817355G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.697C>T	16.37:g.70817355G>A	ENSP00000261776:p.Arg233Cys		Somatic					p.R233C	NM_018052.3	NP_060522.3	WXS	Illumina GAIIx	Phase_I	Q08AM6	VAC14_HUMAN			6	957	-		Ovarian(137;0.0699)	233					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.697C>T	CCDS10896.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.85	3.489656	0.64074	.	.	ENSG00000103043	ENST00000261776	T	0.77620	-1.11	5.75	4.8	0.61643	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88220	0.6378	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.89279	0.3610	10	0.87932	D	0	-24.735	9.7174	0.40283	0.0701:0.0:0.7903:0.1396	.	233	Q08AM6	VAC14_HUMAN	C	233	ENSP00000261776:R233C	ENSP00000261776:R233C	R	-	1	0	VAC14	69374856	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	3.317000	0.51968	1.444000	0.47605	0.655000	0.94253	CGC		0.587	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		22	40	0	0	0	1	0	22	40					A	70817355	G	A	70817355	3	1	48	1	0	0	0	0	1	0	0	0	17126	1058	37	1	1707	1	VAC14	16	70817355	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	51888	70817355	19537398	3636	8104										
PMFBP1	83449	broad.mit.edu	37	chr16	72184724	72184724	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccatttcctcctcatagagaAtcacctgtaggtgtaggaat	8	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:72184724A>C	ENST00000237353.10	-	5	680	c.419T>G	c.(418-420)aTt>aGt	p.I140S	PMFBP1_ENST00000537465.1_Missense_Mutation_p.I140S|PMFBP1_ENST00000355636.6_5'UTR	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	140						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)				CTCATAGAGAATCACCTGTAG	0.498																																						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.(418-420)aTt>aGt		polyamine modulated factor 1 binding protein 1							85	79	81					16																	72184724		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72184724A>C	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.419T>G	16.37:g.72184724A>C	ENSP00000237353:p.Ile140Ser		Somatic				PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Missense_Mutation_p.I140S	p.I140S			WXS	Illumina GAIIx	Phase_I	Q8TBY8	PMFBP_HUMAN			5	577	-		Ovarian(137;0.179)	140					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.419T>G	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.064940	0.36470	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000535461	T;T	0.76968	-1.06;-1.06	6.17	1.62	0.23740	.	0.120406	0.38217	N	0.001768	T	0.62245	0.2412	N	0.24115	0.695	0.80722	D	1	P;P	0.42296	0.775;0.775	B;B	0.42282	0.382;0.382	T	0.55335	-0.8157	10	0.33141	T	0.24	-4.6168	7.519	0.27616	0.6872:0.0:0.3128:0.0	.	140;140	Q8TBY8-2;G3V1Q7	.;.	S	140	ENSP00000443817:I140S;ENSP00000237353:I140S	ENSP00000237353:I140S	I	-	2	0	PMFBP1	70742225	0.994000	0.37717	0.999000	0.59377	0.920000	0.55202	0.846000	0.27682	0.582000	0.29556	0.533000	0.62120	ATT		0.498	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		30	38	0	0	0	1	0	30	38					C	72184724	A	C	72184724	3	2	48	1	0	0	0	0	1	0	0	0	12143	101	4	4	2732	4	PMFBP1	16	72184724	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1367369	72184724	18170029	3637	8105										
ZFHX3	463	broad.mit.edu	37	chr16	72829497	72829497	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaatcctcattttggctgtCgtcctgcccctcctcatcct	7	16	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:72829497C>T	ENST00000268489.5	-	9	7756	c.7084G>A	c.(7084-7086)Gac>Aac	p.D2362N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.D1448N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2362					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)				TTTTGGCTGTCGTCCTGCCCC	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.(7084-7086)Gac>Aac		zinc finger homeobox 3							131	124	126					16																	72829497		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.chr16:72829497C>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.7084G>A	16.37:g.72829497C>T	ENSP00000268489:p.Asp2362Asn		Somatic				ZFHX3_ENST00000397992.5_Missense_Mutation_p.D1448N	p.D2362N	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			9	7756	-		Ovarian(137;0.13)	2362					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.7084G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990312	0.74589	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74002	-0.8;-0.78	5.65	5.65	0.86999	.	0.000000	0.52532	D	0.000078	T	0.81922	0.4925	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79122	-0.1933	10	0.33940	T	0.23	.	19.722	0.96147	0.0:1.0:0.0:0.0	.	2362	Q15911	ZFHX3_HUMAN	N	2362;1448	ENSP00000268489:D2362N;ENSP00000438926:D1448N	ENSP00000268489:D2362N	D	-	1	0	ZFHX3	71386998	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.657000	0.90304	0.561000	0.74099	GAC		0.532	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		50	74	0	0	0	1	0	50	74					T	72829497	C	T	72829497	3	4	48	1	0	0	0	0	1	0	0	0	17649	884	31	1	4035	1	ZFHX3	16	72829497	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	644773	72829497	17525256	3638	8106										
CNTNAP4	85445	broad.mit.edu	37	chr16	76592493	76592493	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtgaggcaaaaaggtcagaGaatgtagacagtgctgaggc	15	5	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:76592493G>T	ENST00000476707.1	+	23	3988	c.3849G>T	c.(3847-3849)gaG>gaT	p.E1283D	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E1207D|RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.E1279D|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E1231D			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1280					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AAAGGTCAGAGAATGTAGACA	0.373																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(3835-3837)gaG>gaT		contactin associated protein-like 4							83	81	81					16																	76592493		1906	4168	6074	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76592493G>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3849G>T	16.37:g.76592493G>T	ENSP00000417628:p.Glu1283Asp		Somatic				CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E1207D|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.E1283D|CNTNAP4_ENST00000469589.1_3'UTR|RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E1231D	p.E1279D	NM_033401.3	NP_207837.2	WXS	Illumina GAIIx	Phase_I	Q9C0A0	CNTP4_HUMAN			25	4222	+			1280					E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.3837G>T		.	.	.	.	.	.	.	.	.	.	G	15.88	2.964090	0.53507	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.89123	-2.33;-2.43;-2.42;-2.47	5.65	3.59	0.41128	.	0.000000	0.41712	D	0.000824	D	0.89451	0.6719	.	.	.	0.37359	D	0.911126	P;D;P	0.54964	0.749;0.969;0.862	B;P;B	0.55011	0.437;0.766;0.37	D	0.89277	0.3609	9	0.49607	T	0.09	.	4.6464	0.12574	0.3779:0.0:0.622:0.0	.	1207;1283;1280	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	D	1279;1231;1207;1283	ENSP00000306893:E1279D;ENSP00000439733:E1231D;ENSP00000418741:E1207D;ENSP00000417628:E1283D	ENSP00000306893:E1279D	E	+	3	2	CNTNAP4	75149994	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.398000	0.52579	1.627000	0.50400	0.655000	0.94253	GAG		0.373	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		13	21	1	0	4.3838e-07	1	4.998e-07	13	21					T	76592493	G	T	76592493	3	4	48	1	0	0	0	0	1	0	0	0	3651	933	33	2	3947	2	CNTNAP4	16	76592493	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3762996	76592493	13762260	3639	8107										
MON1B	22879	broad.mit.edu	37	chr16	77227525	77227525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaggagtggcgcagccagcGgaagcatgtgtttgtgctga	17	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:77227525G>A	ENST00000248248.3	+	3	676	c.326G>A	c.(325-327)cGg>cAg	p.R109Q	MON1B_ENST00000439557.2_Intron|MON1B_ENST00000545553.1_Intron|MON1B_ENST00000320859.6_Missense_Mutation_p.R109Q	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	109										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CGCAGCCAGCGGAAGCATGTG	0.612																																						ENST00000248248.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(325-327)cGg>cAg		MON1 secretory trafficking family member B							81	73	76					16																	77227525		2198	4300	6498	SO:0001583	missense	22879						protein binding	g.chr16:77227525G>A	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"MON1 homolog B (yeast)"			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.326G>A	16.37:g.77227525G>A	ENSP00000248248:p.Arg109Gln		Somatic				MON1B_ENST00000320859.6_Missense_Mutation_p.R109Q|MON1B_ENST00000439557.2_Intron|MON1B_ENST00000545553.1_Intron	p.R109Q	NM_014940.2	NP_055755.1	WXS	Illumina GAIIx	Phase_I	Q7L1V2	MON1B_HUMAN			3	676	+			109					B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	37	c.326G>A	CCDS10925.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190383	0.94923	.	.	ENSG00000103111	ENST00000248248;ENST00000320859	.	.	.	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000002	T	0.31734	0.0806	L	0.42581	1.335	0.32922	D	0.51594	P	0.51537	0.946	B	0.41174	0.349	T	0.43925	-0.9361	9	0.27785	T	0.31	.	8.9135	0.35568	0.1035:0.0:0.8965:0.0	.	109	Q7L1V2	MON1B_HUMAN	Q	109	.	ENSP00000248248:R109Q	R	+	2	0	MON1B	75785026	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.790000	0.75115	2.233000	0.73108	0.563000	0.77884	CGG		0.612	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		21	44	0	0	0	1	0	21	44					A	77227525	G	A	77227525	3	1	48	1	0	0	0	0	1	0	0	0	9708	1116	39	1	332	1	MON1B	16	77227525	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	635032	77227525	13127228	3640	8108										
ADAMTS18	170692	broad.mit.edu	37	chr16	77359844	77359844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctgcacactgttgagcccGaaaatccaagctattttcat	6	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:77359844G>A	ENST00000282849.5	-	13	2369	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	651	Cys-rich.				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						TGTTGAGCCCGAAAATCCAAG	0.423																																						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.(1951-1953)Cgg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 18							114	102	106					16																	77359844		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77359844G>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.1951C>T	16.37:g.77359844G>A	ENSP00000282849:p.Arg651Trp		Somatic					p.R651W	NM_199355.2	NP_955387.1	WXS	Illumina GAIIx	Phase_I	Q8TE60	ATS18_HUMAN			13	2369	-			651			Cys-rich.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1951C>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321708	0.81580	.	.	ENSG00000140873	ENST00000282849	T	0.06933	3.24	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.48624	0.1510	H	0.98199	4.17	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.67094	-0.5757	10	0.87932	D	0	.	19.4463	0.94849	0.0:0.0:1.0:0.0	.	651;651	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	W	651	ENSP00000282849:R651W	ENSP00000282849:R651W	R	-	1	2	ADAMTS18	75917345	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	4.724000	0.61972	2.835000	0.97688	0.650000	0.86243	CGG		0.423	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			21	29	0	0	0	1	0	21	29					A	77359844	G	A	77359844	3	1	48	1	0	0	0	0	1	0	0	0	263	1057	37	1	1758	1	ADAMTS18	16	77359844	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	132319	77359844	12994909	3641	8109										
ATMIN	23300	broad.mit.edu	37	chr16	81077539	81077539	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agctgctcagactgatgcatTtatggacacctgtttccagt	9	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:81077539T>G	ENST00000299575.4	+	4	1460	c.1436T>G	c.(1435-1437)tTt>tGt	p.F479C	ATMIN_ENST00000566488.1_Missense_Mutation_p.F323C|ATMIN_ENST00000564241.1_Missense_Mutation_p.F323C|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	479					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						ACTGATGCATTTATGGACACC	0.458																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(967-969)tTt>tGt		ATM interactor							97	92	94					16																	81077539		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81077539T>G	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1436T>G	16.37:g.81077539T>G	ENSP00000299575:p.Phe479Cys		Somatic				ATMIN_ENST00000299575.4_Missense_Mutation_p.F479C|ATMIN_ENST00000564241.1_Missense_Mutation_p.F323C|ATMIN_ENST00000539819.1_3'UTR	p.F323C			WXS	Illumina GAIIx	Phase_I	O43313	ATMIN_HUMAN			3	1931	+			479			Required for formation of RAD51 foci.		A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.968T>G	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.456580	0.26161	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.03004	4.08	5.87	5.87	0.94306	.	0.272209	0.43416	D	0.000575	T	0.11537	0.0281	M	0.73598	2.24	0.19775	N	0.999955	D	0.63880	0.993	P	0.53185	0.72	T	0.12760	-1.0535	10	0.87932	D	0	-13.1624	10.8542	0.46789	0.0:0.0701:0.0:0.9299	.	479	O43313	ATMIN_HUMAN	C	479;250	ENSP00000299575:F479C	ENSP00000299575:F479C	F	+	2	0	ATMIN	79635040	0.832000	0.29368	0.021000	0.16686	0.029000	0.11900	2.621000	0.46418	2.371000	0.80710	0.533000	0.62120	TTT		0.458	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		39	60	0	0	0	1	0	39	60					G	81077539	T	G	81077539	3	3	48	1	0	0	0	0	1	0	0	0	1110	1841	64	4	1450	4	ATMIN	16	81077539	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	3717695	81077539	9277214	3642	8110										
PKD1L2	114780	broad.mit.edu	37	chr16	81193409	81193409	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctgtgggctcaggatccaCgtgggcagctcatctgtagg	14	11	3	0	rs369354999		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:81193409C>T	ENST00000525539.1	-	0	3713				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	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						TCAGGATCCACGTGGGCAGCT	0.587																																						ENST00000525539.1																			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		C		1,4053		0,1,2026	33	35	34		3714	-8.5	0.2	16		34	0,8370		0,0,4185	no	coding-synonymous	PKD1L2	NM_052892.3		0,1,6211	TT,TC,CC		0.0,0.0247,0.0080		1238/2460	81193409	1,12423	2027	4185	6212			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81193409C>T	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.81193409C>T			Somatic				PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	WXS	Illumina GAIIx	Phase_I	Q7Z442	PK1L2_HUMAN			0	3713	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.587	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			6	12	0	0	0	1	0	6	12					T	81193409	C	T	81193409	1	4	48	0	1	0	0	0	0	0	0	0	11974	523	19	1		1	PKD1L2	16	81193409	RNA	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	115870	81193409	9161344	3643	8111										
PKD1L2	114780	broad.mit.edu	37	chr16	81224277	81224277	+	RNA	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agacaatactcacactctttCcttcagcattcatcccagat	3	14	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:81224277C>A	ENST00000525539.1	-	0	1663				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	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						CACACTCTTTCCTTCAGCATT	0.413																																						ENST00000599697.1																			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						c.(1663-1665)gGa>gTa		polycystic kidney disease 1-like 2							144	144	144					16																	81224277		1858	4106	5964			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81224277C>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.81224277C>A			Somatic				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA	p.G555V			WXS	Illumina GAIIx	Phase_I	Q7Z442	PK1L2_HUMAN			9	1663	-			555			REJ.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.1664G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.089|6.089	0.384660|0.384660	0.11524|0.11524	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000337114|ENST00000526632	T|.	0.01240|.	5.12|.	4.19|4.19	-2.35|-2.35	0.06684|0.06684	Egg jelly receptor, REJ-like (1);|.	2.102090|.	0.01637|.	N|.	0.023824|.	T|T	0.23249|0.23249	0.0562|0.0562	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|.	0.21225|.	0.053;0.003|.	B;B|.	0.12837|.	0.008;0.004|.	T|T	0.29971|0.29971	-0.9994|-0.9994	9|4	0.41790|.	T|.	0.15|.	0.5613|0.5613	5.3644|5.3644	0.16105|0.16105	0.0:0.4266:0.1803:0.3931|0.0:0.4266:0.1803:0.3931	.|.	555;555|.	Q7Z442-3;Q7Z442|.	.;PK1L2_HUMAN|.	V|S	555|82	ENSP00000337397:G555V|.	ENSP00000337397:G555V|.	G|R	-|-	2|3	0|2	PKD1L2|PKD1L2	79781778|79781778	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.907000|0.907000	0.53573|0.53573	-0.694000|-0.694000	0.05115|0.05115	-0.602000|-0.602000	0.05775|0.05775	-0.402000|-0.402000	0.06365|0.06365	GGA|AGG		0.413	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			35	79	1	0	2.19962e-31	1	3.1472e-31	35	79					A	81224277	C	A	81224277	1	1	48	0	1	0	0	0	0	0	0	0	11974	855	30	2		2	PKD1L2	16	81224277	RNA	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	30868	81224277	9130476	3644	8112										
BCMO1	53630	broad.mit.edu	37	chr16	81279168	81279168	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccagatacaaccattggttCgacggccttgccctgctcca	8	15	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:81279168C>T	ENST00000425577.2	+	2	373	c.76C>T	c.(76-78)Cga>Tga	p.R26*	BCMO1_ENST00000564552.1_Silent_p.F51F|BCMO1_ENST00000258168.2_Silent_p.F51F																breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACCATTGGTTCGACGGCCTTG	0.577																																						ENST00000425577.2																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						c.(76-78)Cga>Tga		beta-carotene 15,15'-monooxygenase 1							129	117	121					16																	81279168		2202	4300	6502	SO:0001587	stop_gained	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81279168C>T																												ENST00000425577.2:c.76C>T	16.37:g.81279168C>T	ENSP00000400586:p.Arg26*		Somatic				BCMO1_ENST00000258168.2_Silent_p.F51F|BCMO1_ENST00000564552.1_Silent_p.F51F	p.R26*			WXS	Illumina GAIIx	Phase_I	Q9HAY6	BCDO1_HUMAN			2	373	+			0						Nonsense_Mutation	SNP	ENST00000425577.2	37	c.76C>T		.	.	.	.	.	.	.	.	.	.	C	22.1	4.250049	0.80024	.	.	ENSG00000135697	ENST00000425577	.	.	.	5.04	-10.1	0.00402	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-23.8258	16.2421	0.82418	0.0:0.5325:0.0:0.4674	.	.	.	.	X	26	.	ENSP00000400586:R26X	R	+	1	2	BCMO1	79836669	0.046000	0.20272	0.674000	0.29902	0.227000	0.25037	-0.969000	0.03813	-1.968000	0.01006	-2.136000	0.00340	CGA		0.577	BCMO1-201	KNOWN	basic	protein_coding	protein_coding				34	86	0	0	0	1	0	34	86					T	81279168	C	T	81279168	4	4	48	1	0	0	0	0	0	1	0	0	1384	883	31	1	159	1	BCMO1	16	81279168	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	54891	81279168	9075585	3645	8113										
CDH13	1012	broad.mit.edu	37	chr16	83816998	83816998	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgtgctcctgcaggaattcCaaagtggactgcaacgcggc	13	11	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:83816998C>A	ENST00000566620.1	+	13	2345	c.2055C>A	c.(2053-2055)tcC>tcA	p.S685S	CDH13_ENST00000268613.10_Silent_p.S732S|CDH13_ENST00000428848.3_Silent_p.S646S	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	685	Cadherin 5. {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)		GCAGGAATTCCAAAGTGGACT	0.532																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(2053-2055)tcC>tcA		cadherin 13							94	93	93					16																	83816998		1998	4167	6165	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.chr16:83816998C>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.2055C>A	16.37:g.83816998C>A			Somatic				CDH13_ENST00000428848.3_Silent_p.S646S|CDH13_ENST00000268613.10_Silent_p.S732S	p.S685S	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)	13	2345	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	685			Cadherin 5.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	c.2055C>A	CCDS58486.1																																																																																				0.532	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		8	76	1	0	0.0381472	1	0.0387537	8	76					A	83816998	C	A	83816998	2	1	48	1	0	0	0	0	0	0	0	1	3101	581	21	5		5	CDH13	16	83816998	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2537830	83816998	6537755	3646	8114										
HSDL1	83693	broad.mit.edu	37	chr16	84163651	84163651	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagcaggagccagaagagatCgtgacgatggcacctttctt	12	10	1	3	rs148654230		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:84163651C>T	ENST00000219439.4	-	4	782	c.606G>A	c.(604-606)acG>acA	p.T202T	HSDL1_ENST00000434463.3_Silent_p.T147T	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	202						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						CAGAAGAGATCGTGACGATGG	0.483													C|||	1	0.000199681	8e-04	0	5008	,	,		18729	0		0	False		,,,				2504	0					ENST00000219439.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(604-606)acG>acA		hydroxysteroid dehydrogenase like 1		C	,	0,4400		0,0,2200	115	97	103		441,606	-7	0.6	16	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	HSDL1	NM_001146051.1,NM_031463.4	,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,	147/276,202/331	84163651	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	83693					mitochondrion	oxidoreductase activity|protein binding	g.chr16:84163651C>T	AF237684	CCDS10942.1, CCDS54046.1	16q24	2011-09-20			ENSG00000103160	ENSG00000103160		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	16475	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 12C, member 3"					12153137, 19027726	Standard	NM_031463		Approved	SDR12C3	uc002fhk.2	Q3SXM5	OTTHUMG00000137635	ENST00000219439.4:c.606G>A	16.37:g.84163651C>T			Somatic				HSDL1_ENST00000434463.3_Silent_p.T147T	p.T202T	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	WXS	Illumina GAIIx	Phase_I	Q3SXM5	HSDL1_HUMAN			4	782	-			202					B4DSL2|D3DUL4|Q3SXM4|Q8NC98|Q9BY22	Silent	SNP	ENST00000219439.4	37	c.606G>A	CCDS10942.1																																																																																				0.483	HSDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269076.3	NM_031463		35	55	0	0	0	1	0	35	55					T	84163651	C	T	84163651	2	4	48	1	0	0	0	0	0	0	0	1	7402	871	31	1		1	HSDL1	16	84163651	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	346653	84163651	6191102	3647	8115										
LRRC50	123872	broad.mit.edu	37	chr16	84193391	84193391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggatgatagaccagtgtttCcaaaggacaggtaagaagag	13	5	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:84193391C>T	ENST00000378553.5	+	6	977	c.853C>T	c.(853-855)Cca>Tca	p.P285S	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Missense_Mutation_p.P285S	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	285	LRRCT.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						ACCAGTGTTTCCAAAGGACAG	0.353																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(853-855)Cca>Tca		dynein, axonemal, assembly factor 1							108	96	100					16																	84193391		2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84193391C>T	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.853C>T	16.37:g.84193391C>T	ENSP00000367815:p.Pro285Ser		Somatic				DNAAF1_ENST00000334315.5_Missense_Mutation_p.P285S|DNAAF1_ENST00000563818.1_3'UTR	p.P285S	NM_178452.4	NP_848547.4	WXS	Illumina GAIIx	Phase_I	Q8NEP3	DAAF1_HUMAN			6	977	+			285			LRRCT.		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.853C>T	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958062	0.73902	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.22134	1.97;1.97	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.50137	0.1598	M	0.78801	2.425	0.49582	D	0.999805	D;P	0.89917	1.0;0.705	D;P	0.91635	0.999;0.692	T	0.54925	-0.8220	10	0.66056	D	0.02	-11.7255	18.4557	0.90720	0.0:1.0:0.0:0.0	.	33;285	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	S	285	ENSP00000334593:P285S;ENSP00000367815:P285S	ENSP00000334593:P285S	P	+	1	0	DNAAF1	82750892	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	5.257000	0.65473	2.352000	0.79861	0.650000	0.86243	CCA		0.353	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		18	33	0	0	0	1	0	18	33					T	84193391	C	T	84193391	3	4	48	1	0	0	0	0	1	0	0	0	9018	855	30	3	875	3	LRRC50	16	84193391	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	29740	84193391	6161362	3648	8116										
FAM92B	339145	broad.mit.edu	37	chr16	85135934	85135934	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaaagtcacaaaaaaatttCtgtggggagagaaacccaaa	8	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:85135934C>A	ENST00000539556.1	-	7	693		c.e7-1			NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						AAAAAAATTTCTGTGGGGAGA	0.517																																						ENST00000539556.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						c.e7-1		family with sequence similarity 92, member B							50	49	49					16																	85135934		2198	4300	6498	SO:0001630	splice_region_variant	339145							g.chr16:85135934C>A		CCDS32500.1	16q24.1	2005-09-22				ENSG00000153789			24781	protein-coding gene	gene with protein product						12477932	Standard	NM_198491		Approved	FLJ44299	uc021tlz.1	Q6ZTR7		ENST00000539556.1:c.538-1G>T	16.37:g.85135934C>A			Somatic						NM_198491.1	NP_940893.1	WXS	Illumina GAIIx	Phase_I	Q6ZTR7	FA92B_HUMAN			7	693	-									Splice_Site	SNP	ENST00000539556.1	37		CCDS32500.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003082	0.54254	.	.	ENSG00000153789	ENST00000393246;ENST00000539556	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4988	0.87726	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM92B	83693435	1.000000	0.71417	0.570000	0.28473	0.025000	0.11179	6.493000	0.73658	2.745000	0.94114	0.555000	0.69702	.		0.517	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198491	Intron	12	35	1	0	6.40141e-05	1	6.95424e-05	12	35					A	85135934	C	A	85135934	5	1	48	1	0	0	0	0	0	0	1	0	5661	927	32	2	389	2	FAM92B	16	85135934	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	942543	85135934	5218819	3649	8117										
KIAA0182	23199	broad.mit.edu	37	chr16	85696959	85696959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcccaatctagaagctagagTttttgcaactttttggcttg	8	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:85696959T>C	ENST00000253458.7	+	11	2559	c.2383T>C	c.(2383-2385)Ttt>Ctt	p.F795L	GSE1_ENST00000393243.1_Missense_Mutation_p.F722L|GSE1_ENST00000405402.2_Missense_Mutation_p.F691L	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	795																	GAAGCTAGAGTTTTTGCAACT	0.547																																						ENST00000253458.7																			0											c.(2383-2385)Ttt>Ctt		Gse1 coiled-coil protein							104	123	116					16																	85696959		2198	4300	6498	SO:0001583	missense	23199							g.chr16:85696959T>C	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.2383T>C	16.37:g.85696959T>C	ENSP00000253458:p.Phe795Leu		Somatic				GSE1_ENST00000393243.1_Missense_Mutation_p.F722L|GSE1_ENST00000405402.2_Missense_Mutation_p.F691L	p.F795L	NM_014615.2	NP_055430.1	WXS	Illumina GAIIx	Phase_I					11	2559	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.2383T>C	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.018010	0.93404	.	.	ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243	T;T;T	0.72505	-0.62;-0.58;-0.66	5.21	5.21	0.72293	.	0.050531	0.85682	D	0.000000	T	0.79112	0.4391	M	0.70275	2.135	0.54753	D	0.999982	D;D	0.60160	0.984;0.987	P;P	0.55923	0.681;0.787	T	0.79743	-0.1675	10	0.41790	T	0.15	-9.7456	14.7541	0.69549	0.0:0.0:0.0:1.0	.	722;795	Q14687-3;Q14687	.;GSE1_HUMAN	L	691;795;722	ENSP00000384839:F691L;ENSP00000253458:F795L;ENSP00000376934:F722L	ENSP00000253458:F795L	F	+	1	0	KIAA0182	84254460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.508000	0.81686	1.973000	0.57446	0.459000	0.35465	TTT		0.547	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		78	124	0	0	0	1	0	78	124					C	85696959	T	C	85696959	3	2	48	1	0	0	0	0	1	0	0	0	8168	1725	60	4	2425	4	KIAA0182	16	85696959	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	561025	85696959	4657794	3650	8118										
KIAA0182	23199	broad.mit.edu	37	chr16	85697170	85697170	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caacttcgaagaaaagaagaAgttcctgaccatcttcaacc	6	11	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:85697170A>C	ENST00000253458.7	+	11	2770	c.2594A>C	c.(2593-2595)aAg>aCg	p.K865T	GSE1_ENST00000393243.1_Missense_Mutation_p.K792T|GSE1_ENST00000405402.2_Missense_Mutation_p.K761T	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	865																	GAAAAGAAGAAGTTCCTGACC	0.562																																						ENST00000253458.7																			0											c.(2593-2595)aAg>aCg		Gse1 coiled-coil protein							94	90	92					16																	85697170		2198	4300	6498	SO:0001583	missense	23199							g.chr16:85697170A>C	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.2594A>C	16.37:g.85697170A>C	ENSP00000253458:p.Lys865Thr		Somatic				GSE1_ENST00000393243.1_Missense_Mutation_p.K792T|GSE1_ENST00000405402.2_Missense_Mutation_p.K761T	p.K865T	NM_014615.2	NP_055430.1	WXS	Illumina GAIIx	Phase_I					11	2770	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.2594A>C	CCDS10952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.01|18.01	3.527410|3.527410	0.64860|0.64860	.|.	.|.	ENSG00000131149|ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243|ENST00000412692;ENST00000438180	T;T;T|.	0.32023|.	1.47;1.47;1.47|.	5.21|5.21	-0.0639|-0.0639	0.13774|0.13774	.|.	0.177165|.	0.46758|.	D|.	0.000272|.	T|T	0.39064|0.39064	0.1064|0.1064	N|N	0.22421|0.22421	0.69|0.69	0.34359|0.34359	D|D	0.690802|0.690802	P;D;D;D|.	0.58970|.	0.891;0.981;0.981;0.984|.	P;P;P;P|.	0.60415|.	0.673;0.801;0.801;0.874|.	T|T	0.45366|0.45366	-0.9266|-0.9266	10|5	0.37606|.	T|.	0.19|.	-32.5411|-32.5411	9.53|9.53	0.39187|0.39187	0.5555:0.0:0.4445:0.0|0.5555:0.0:0.4445:0.0	.|.	628;761;792;865|.	Q59GZ0;Q14687-2;Q14687-3;Q14687|.	.;.;.;GSE1_HUMAN|.	T|R	761;865;792|672;67	ENSP00000384839:K761T;ENSP00000253458:K865T;ENSP00000376934:K792T|.	ENSP00000253458:K865T|.	K|S	+|+	2|1	0|0	KIAA0182|KIAA0182	84254671|84254671	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	1.759000|1.759000	0.38420|0.38420	0.037000|0.037000	0.15575|0.15575	0.459000|0.459000	0.35465|0.35465	AAG|AGT		0.562	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		31	72	0	0	0	1	0	31	72					C	85697170	A	C	85697170	3	2	48	1	0	0	0	0	1	0	0	0	8168	72	3	4	2636	4	KIAA0182	16	85697170	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	211	85697170	4657583	3651	8119										
FOXF1	2294	broad.mit.edu	37	chr16	86544588	86544588	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttcgaggagggctcctttcGgcggcggccgcgcggcttcc	17	14	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:86544588G>A	ENST00000262426.4	+	1	456	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	138					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GGCTCCTTTCGGCGGCGGCCG	0.647																																						ENST00000262426.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(412-414)cGg>cAg		forkhead box F1							52	66	61					16																	86544588		2197	4299	6496	SO:0001583	missense	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86544588G>A	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"Forkhead boxes"	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.413G>A	16.37:g.86544588G>A	ENSP00000262426:p.Arg138Gln		Somatic					p.R138Q	NM_001451.2	NP_001442.2	WXS	Illumina GAIIx	Phase_I	Q12946	FOXF1_HUMAN			1	456	+			138					B2RAF4|Q5FWE5	Missense_Mutation	SNP	ENST00000262426.4	37	c.413G>A	CCDS10957.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567332	0.86439	.	.	ENSG00000103241	ENST00000262426	T	0.39056	1.1	4.51	4.51	0.55191	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72478	-0.4281	10	0.62326	D	0.03	.	16.1868	0.81960	0.0:0.0:1.0:0.0	.	138	Q12946	FOXF1_HUMAN	Q	138	ENSP00000262426:R138Q	ENSP00000262426:R138Q	R	+	2	0	FOXF1	85102089	1.000000	0.71417	0.992000	0.48379	0.812000	0.45895	7.536000	0.82023	2.052000	0.61016	0.650000	0.86243	CGG		0.647	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		63	117	0	0	0	1	0	63	117					A	86544588	G	A	86544588	3	1	48	1	0	0	0	0	1	0	0	0	6013	1116	39	1	415	1	FOXF1	16	86544588	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	847418	86544588	3810165	3652	8120										
ZCCHC14	23174	broad.mit.edu	37	chr16	87454256	87454256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtggtttcgctccacataaaAtgcgtccggaccagctaagc	10	12	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:87454256A>G	ENST00000268616.4	-	5	713	c.496T>C	c.(496-498)Ttt>Ctt	p.F166L		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	166							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)		TCCACATAAAATGCGTCCGGA	0.562																																						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.(496-498)Ttt>Ctt		zinc finger, CCHC domain containing 14							119	88	99					16																	87454256		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87454256A>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.496T>C	16.37:g.87454256A>G	ENSP00000268616:p.Phe166Leu		Somatic					p.F166L	NM_015144.2	NP_055959.1	WXS	Illumina GAIIx	Phase_I	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	5	713	-			166					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.496T>C	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.551061	0.45383	.	.	ENSG00000140948	ENST00000268616	T	0.69040	-0.37	5.37	5.37	0.77165	Phox homologous domain (2);	0.192060	0.46758	D	0.000269	T	0.67163	0.2864	L	0.54323	1.7	0.32193	N	0.578768	P	0.48089	0.905	P	0.46026	0.501	T	0.75286	-0.3371	10	0.42905	T	0.14	-20.2972	15.3775	0.74621	1.0:0.0:0.0:0.0	.	166	Q8WYQ9	ZCH14_HUMAN	L	166	ENSP00000268616:F166L	ENSP00000268616:F166L	F	-	1	0	ZCCHC14	86011757	0.999000	0.42202	0.746000	0.31095	0.383000	0.30230	4.636000	0.61339	2.043000	0.60533	0.482000	0.46254	TTT		0.562	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		5	21	0	0	0	1	0	5	21					G	87454256	A	G	87454256	3	3	48	1	0	0	0	0	1	0	0	0	17598	101	4	4	2389	4	ZCCHC14	16	87454256	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	909668	87454256	2900497	3653	8121										
ZC3H18	124245	broad.mit.edu	37	chr16	88666313	88666313	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaaagaaaatgaagtttttCgagattggaattctcggatc	9	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:88666313C>T	ENST00000301011.5	+	6	1245	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R373*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	349						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R349*(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TGAAGTTTTTCGAGATTGGAA	0.488																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			2	Substitution - Nonsense(2)	p.R349*(2)	large_intestine(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1045-1047)Cga>Tga		zinc finger CCCH-type containing 18							114	128	123					16																	88666313		2198	4300	6498	SO:0001587	stop_gained	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88666313C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1045C>T	16.37:g.88666313C>T	ENSP00000301011:p.Arg349*		Somatic				ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R373*	p.R349*	NM_144604.3	NP_653205.3	WXS	Illumina GAIIx	Phase_I	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	6	1245	+			349					Q96DG4|Q96MP7	Nonsense_Mutation	SNP	ENST00000301011.5	37	c.1045C>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	C	39	7.301061	0.98196	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	.	.	.	5.16	4.11	0.48088	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5262	14.7222	0.69314	0.1543:0.8457:0.0:0.0	.	.	.	.	X	349;373;373;232	.	ENSP00000289509:R373X	R	+	1	2	ZC3H18	87193814	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.781000	0.38644	2.390000	0.81377	0.561000	0.74099	CGA		0.488	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		44	76	0	0	0	1	0	44	76					T	88666313	C	T	88666313	4	4	48	1	0	0	0	0	0	1	0	0	17583	876	31	1	1063	1	ZC3H18	16	88666313	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1212057	88666313	1688440	3654	8122										
CBFA2T3	863	broad.mit.edu	37	chr16	88945713	88945713	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgctggttgatgaccgtcaGggcgtcctcggaggcctgcc	15	13	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:88945713G>T	ENST00000268679.4	-	11	2023	c.1627C>A	c.(1627-1629)Ctg>Atg	p.L543M	CBFA2T3_ENST00000327483.5_Missense_Mutation_p.L457M|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.L457M|RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.L505M|RP11-830F9.5_ENST00000569249.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.L467M|RP11-830F9.5_ENST00000562574.1_RNA	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	543					cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		ATGACCGTCAGGGCGTCCTCG	0.711			T	RUNX1	AML																																	ENST00000268679.4				Dom	yes		16	16q24	863	T	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"			L	RUNX1		AML		0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1627-1629)Ctg>Atg		core-binding factor, runt domain, alpha subunit 2; translocated to, 3							57	59	58					16																	88945713		2197	4298	6495	SO:0001583	missense	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88945713G>T	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1627C>A	16.37:g.88945713G>T	ENSP00000268679:p.Leu543Met		Somatic				CBFA2T3_ENST00000360302.2_Missense_Mutation_p.L457M|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.L467M|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.L505M|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.L457M	p.L543M	NM_005187.5	NP_005178.4	WXS	Illumina GAIIx	Phase_I	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	11	2023	-			543					D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	c.1627C>A	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749312	0.49257	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	4.7	3.74	0.42951	.	0.167226	0.41001	D	0.000980	T	0.61123	0.2322	M	0.73962	2.25	0.42186	D	0.991706	D;P	0.63046	0.992;0.946	D;P	0.66351	0.943;0.847	T	0.60984	-0.7154	10	0.48119	T	0.1	-21.3712	6.186	0.20498	0.1661:0.154:0.68:0.0	.	543;457	O75081;O75081-2	MTG16_HUMAN;.	M	457;543;505;467;457	ENSP00000332122:L457M;ENSP00000268679:L543M;ENSP00000395739:L505M;ENSP00000401254:L467M;ENSP00000353449:L457M	ENSP00000268679:L543M	L	-	1	2	CBFA2T3	87473214	0.963000	0.33076	0.144000	0.22314	0.767000	0.43475	1.607000	0.36836	0.968000	0.38212	0.462000	0.41574	CTG		0.711	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187		5	68	1	0	0.0293803	1	0.0299069	5	68					T	88945713	G	T	88945713	3	4	48	1	0	0	0	0	1	0	0	0	2700	991	35	5	342	5	CBFA2T3	16	88945713	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	279400	88945713	1409040	3655	8123										
PRDM7	11105	broad.mit.edu	37	chr16	90124880	90124880	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcgttccacatgttgactgaGaaatttttgacttgaaaagg	10	6	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:90124880G>T	ENST00000449207.2	-	10	1315	c.1296C>A	c.(1294-1296)ttC>ttA	p.F432L	PRDM7_ENST00000325921.6_Missense_Mutation_p.S132Y|PRDM7_ENST00000407825.1_Missense_Mutation_p.S132Y	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	432					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		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;0.0278)		TGTTGACTGAGAAATTTTTGA	0.463																																						ENST00000407825.1																			0				lung(2)|ovary(2)|stomach(1)	5						c.(394-396)tCt>tAt		PR domain containing 7							146	139	142					16																	90124880		2198	4300	6498	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90124880G>T	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1296C>A	16.37:g.90124880G>T	ENSP00000396732:p.Phe432Leu		Somatic				PRDM7_ENST00000325921.6_Missense_Mutation_p.S132Y|PRDM7_ENST00000449207.2_Missense_Mutation_p.F432L	p.S132Y			WXS	Illumina GAIIx	Phase_I	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1032	-		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)	340					A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.395C>A	CCDS45557.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.62|12.62	1.993927|1.993927	0.35131|0.35131	.|.	.|.	ENSG00000126856|ENSG00000126856	ENST00000449207|ENST00000325921;ENST00000407825	T|T;T	0.14022|0.41758	2.54|0.99;0.99	2.04|2.04	2.04|2.04	0.26737|0.26737	.|.	.|.	.|.	.|.	.|.	T|T	0.26231|0.26231	0.0640|0.0640	.|.	.|.	.|.	0.22253|0.22253	N|N	0.999257|0.999257	B|B	0.15930|0.09022	0.015|0.002	B|B	0.09377|0.10450	0.004|0.005	T|T	0.15263|0.15263	-1.0443|-1.0443	7|7	.|.	.|.	.|.	0.9939|0.9939	10.1192|10.1192	0.42609|0.42609	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	432|132	Q9NQW5|Q9NQW5-2	PRDM7_HUMAN|.	L|Y	432|132	ENSP00000396732:F432L|ENSP00000315512:S132Y;ENSP00000385121:S132Y	.|.	F|S	-|-	3|2	2|0	PRDM7|PRDM7	88652381|88652381	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.659000|0.659000	0.38960|0.38960	1.350000|1.350000	0.34010|0.34010	1.471000|1.471000	0.48121|0.48121	0.467000|0.467000	0.42956|0.42956	TTC|TCT		0.463	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			36	85	1	0	3.3946e-10	1	4.15224e-10	36	85					T	90124880	G	T	90124880	3	4	48	1	0	0	0	0	1	0	0	0	12473	942	33	2	186	2	PRDM7	16	90124880	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1179167	90124880	229873	3656	8124										
VPS53	55275	broad.mit.edu	37	chr17	465979	465979	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaccgatctatcagctctccGaggttcctaggaggaaaaaa	9	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:465979G>A	ENST00000571805.1	-	14	1456	c.1320C>T	c.(1318-1320)ctC>ctT	p.L440L	VPS53_ENST00000437048.2_Silent_p.L440L|VPS53_ENST00000446250.2_Silent_p.L242L|VPS53_ENST00000401468.3_Silent_p.L163L|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Silent_p.L411L|VPS53_ENST00000576149.1_5'UTR			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	440					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TCAGCTCTCCGAGGTTCCTAG	0.468																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(1318-1320)ctC>ctT		vacuolar protein sorting 53 homolog (S. cerevisiae)							46	45	45					17																	465979		2203	4300	6503	SO:0001819	synonymous_variant	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:465979G>A		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1320C>T	17.37:g.465979G>A			Somatic				VPS53_ENST00000291074.5_Silent_p.L411L|VPS53_ENST00000571805.1_Silent_p.L440L|VPS53_ENST00000446250.2_Silent_p.L242L|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Silent_p.L163L	p.L440L	NM_001128159.2	NP_001121631.1	WXS	Illumina GAIIx	Phase_I	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	14	1466	-			440					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Silent	SNP	ENST00000571805.1	37	c.1320C>T																																																																																					0.468	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		21	34	0	0	0	1	0	21	34					A	465979	G	A	465979	2	1	48	1	0	0	0	0	0	0	0	1	17230	1045	37	1		1	VPS53	17	465979	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08		465979	80729231	3657	8125										
GLOD4	51031	broad.mit.edu	37	chr17	673156	673156	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atccatcttagaaagttctcGaaatgcttcatccccgacaa	5	12	3	1	rs184466050	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:673156G>A	ENST00000301328.5	-	9	852	c.829C>T	c.(829-831)Cga>Tga	p.R277*	GLOD4_ENST00000301329.6_Nonsense_Mutation_p.R262*|GLOD4_ENST00000536578.1_Nonsense_Mutation_p.R253*			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	277						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GAAAGTTCTCGAAATGCTTCA	0.448													G|||	2	0.000399361	0	0.0029	5008	,	,		20577	0		0	False		,,,				2504	0					ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(784-786)Cga>Tga		glyoxalase domain containing 4							125	108	114					17																	673156		2203	4300	6503	SO:0001587	stop_gained	51031					mitochondrion		g.chr17:673156G>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.829C>T	17.37:g.673156G>A	ENSP00000301328:p.Arg277*		Somatic				GLOD4_ENST00000536578.1_Nonsense_Mutation_p.R253*|GLOD4_ENST00000301328.5_Nonsense_Mutation_p.R277*	p.R262*	NM_016080.3	NP_057164.3	WXS	Illumina GAIIx	Phase_I	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	8	869	-			277					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Nonsense_Mutation	SNP	ENST00000301328.5	37	c.784C>T		2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	35	5.491439	0.96339	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	.	.	.	5.91	4.95	0.65309	.	0.113326	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2901	14.1362	0.65289	0.0715:0.0:0.9285:0.0	.	.	.	.	X	262;465;277;253	.	ENSP00000301328:R277X	R	-	1	2	GLOD4	619906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.949000	0.40313	1.515000	0.48885	0.655000	0.94253	CGA		0.448	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		18	36	0	0	0	1	0	18	36					A	673156	G	A	673156	4	1	48	1	0	0	0	0	0	1	0	0	6458	1066	37	1	120	1	GLOD4	17	673156	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	207177	673156	80522054	3658	8126										
SMYD4	114826	broad.mit.edu	37	chr17	1703308	1703308	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcctctcagttgggatggcCtgtaaactggctgcttctag	11	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:1703308C>T	ENST00000305513.7	-	5	1547	c.1380G>A	c.(1378-1380)caG>caA	p.Q460Q		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	460	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TTGGGATGGCCTGTAAACTGG	0.502																																						ENST00000305513.7																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						c.(1378-1380)caG>caA		SET and MYND domain containing 4							99	79	86					17																	1703308		2203	4300	6503	SO:0001819	synonymous_variant	114826						zinc ion binding	g.chr17:1703308C>T	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.1380G>A	17.37:g.1703308C>T			Somatic					p.Q460Q	NM_052928.2	NP_443160.2	WXS	Illumina GAIIx	Phase_I	Q8IYR2	SMYD4_HUMAN			5	1547	-			460			SET.		Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Silent	SNP	ENST00000305513.7	37	c.1380G>A	CCDS11013.1																																																																																				0.502	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4	XM_056082		26	37	0	0	0	1	0	26	37					T	1703308	C	T	1703308	2	4	48	1	0	0	0	0	0	0	0	1	14839	680	24	3		3	SMYD4	17	1703308	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1030152	1703308	79491902	3659	8127										
RPA1	6117	broad.mit.edu	37	chr17	1782331	1782331	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatgagcaagtggacaagttCtttcctcttattgaagtgaa	9	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:1782331C>A	ENST00000254719.5	+	9	845	c.735C>A	c.(733-735)ttC>ttA	p.F245L	RPA1_ENST00000573924.1_3'UTR	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	245					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						TGGACAAGTTCTTTCCTCTTA	0.557								Nucleotide excision repair (NER)																														ENST00000254719.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						c.(733-735)ttC>ttA	Nucleotide excision repair (NER)	replication protein A1, 70kDa							98	89	92					17																	1782331		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.chr17:1782331C>A	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.735C>A	17.37:g.1782331C>A	ENSP00000254719:p.Phe245Leu		Somatic				RPA1_ENST00000573924.1_3'UTR	p.F245L	NM_002945.3	NP_002936.1	WXS	Illumina GAIIx	Phase_I	P27694	RFA1_HUMAN			9	845	+			245					A8K0Y9|Q59ES9	Missense_Mutation	SNP	ENST00000254719.5	37	c.735C>A	CCDS11014.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882572	0.91740	.	.	ENSG00000132383	ENST00000254719	T	0.20200	2.09	6.17	3.16	0.36331	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	L	0.49571	1.57	0.80722	D	1	P	0.51057	0.941	P	0.52424	0.698	T	0.01666	-1.1300	10	0.29301	T	0.29	-16.8769	11.3186	0.49407	0.0:0.8057:0.0:0.1943	.	245	P27694	RFA1_HUMAN	L	245	ENSP00000254719:F245L	ENSP00000254719:F245L	F	+	3	2	RPA1	1729081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.400000	0.44504	0.949000	0.37715	0.655000	0.94253	TTC		0.557	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		16	31	1	0	1.01871e-10	1	1.25646e-10	16	31					A	1782331	C	A	1782331	3	1	48	1	0	0	0	0	1	0	0	0	13551	912	32	2	769	2	RPA1	17	1782331	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	79023	1782331	79412879	3660	8128										
RTN4RL1	146760	broad.mit.edu	37	chr17	1840609	1840609	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgaggttgaccaggtccacGaagatgtcgtcctggaggta	14	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:1840609G>A	ENST00000331238.6	-	2	986	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CCAGGTCCACGAAGATGTCGT	0.632																																					GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(505-507)ttC>ttT		reticulon 4 receptor-like 1							41	47	45					17																	1840609		2098	4226	6324	SO:0001819	synonymous_variant	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840609G>A	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"nogo-66 receptor homolog 2"	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.507C>T	17.37:g.1840609G>A			Somatic					p.F169F	NM_178568.2	NP_848663.1	WXS	Illumina GAIIx	Phase_I	Q86UN2	R4RL1_HUMAN			2	525	-			169						Silent	SNP	ENST00000331238.6	37	c.507C>T	CCDS45569.1																																																																																				0.632	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		9	45	0	0	0	1	0	9	45					A	1840609	G	A	1840609	2	1	48	1	0	0	0	0	0	0	0	1	13746	1049	37	1		1	RTN4RL1	17	1840609	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	58278	1840609	79354601	3661	8129										
TSR1	55720	broad.mit.edu	37	chr17	2227591	2227591	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtccatttggggaagactcGtttatacaggttcatcagta	10	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:2227591G>A	ENST00000301364.5	-	15	3393	c.2314C>T	c.(2314-2316)Cga>Tga	p.R772*	SRR_ENST00000344595.5_3'UTR	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	772					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						GGGAAGACTCGTTTATACAGG	0.443																																						ENST00000301364.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(2314-2316)Cga>Tga		TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)							153	139	144					17																	2227591		2203	4300	6503	SO:0001587	stop_gained	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2227591G>A	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.2314C>T	17.37:g.2227591G>A	ENSP00000301364:p.Arg772*		Somatic				SRR_ENST00000344595.5_3'UTR	p.R772*	NM_018128.4	NP_060598.3	WXS	Illumina GAIIx	Phase_I	Q2NL82	TSR1_HUMAN			15	3393	-			772					Q8WUY5|Q9NVT0|Q9P2E6	Nonsense_Mutation	SNP	ENST00000301364.5	37	c.2314C>T	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	G	47	13.445505	0.99742	.	.	ENSG00000167721	ENST00000301364	.	.	.	4.92	1.65	0.23941	.	0.052460	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1348	13.0116	0.58733	0.0:0.0:0.5606:0.4394	.	.	.	.	X	772	.	ENSP00000301364:R772X	R	-	1	2	TSR1	2174341	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.489000	0.53237	0.088000	0.17205	0.655000	0.94253	CGA		0.443	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		32	50	0	0	0	1	0	32	50					A	2227591	G	A	2227591	4	1	48	1	0	0	0	0	0	1	0	0	16679	1153	40	1	104	1	TSR1	17	2227591	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	386982	2227591	78967619	3662	8130										
PAFAH1B1	5048	broad.mit.edu	37	chr17	2573541	2573541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acatttcattcgaccacagcGgcaagcttctggcttcctgt	8	13	2	0	rs121434487		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:2573541G>A	ENST00000397195.5	+	6	935	c.484G>A	c.(484-486)Ggc>Agc	p.G162S	PAFAH1B1_ENST00000572915.2_Intron|PAFAH1B1_ENST00000451360.2_5'Flank	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CGACCACAGCGGCAAGCTTCT	0.448																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11	GRCh37	CM004136	PAFAH1B1	M	rs121434487	c.(484-486)Ggc>Agc		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)							162	154	157					17																	2573541		2203	4300	6503	SO:0001583	missense	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2573541G>A	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"WD repeat domain containing"	8574	protein-coding gene	gene with protein product	"lissencephaly-1"	601545	"platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)", "Miller-Dieker syndrome chromosome region", "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.484G>A	17.37:g.2573541G>A	ENSP00000380378:p.Gly162Ser		Somatic				PAFAH1B1_ENST00000397193.3_3'UTR	p.G162S	NM_000430.3	NP_000421.1	WXS	Illumina GAIIx	Phase_I	P43034	LIS1_HUMAN			6	935	+			162		G -> S (in LIS1; dbSNP:rs28936410).	Interaction with dynein and dynactin.			Missense_Mutation	SNP	ENST00000397195.5	37	c.484G>A	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	G	36	5.640840	0.96693	.	.	ENSG00000007168	ENST00000397195	D	0.83673	-1.75	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	0.90669	0.7073	M	0.66439	2.03	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89698	0.3903	9	0.51188	T	0.08	.	19.4659	0.94939	0.0:0.0:1.0:0.0	rs28936410	162	P43034	LIS1_HUMAN	S	162	ENSP00000380378:G162S	ENSP00000380378:G162S	G	+	1	0	PAFAH1B1	2520291	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	GGC		0.448	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		40	107	0	0	0	1	0	40	107					A	2573541	G	A	2573541	3	1	48	1	0	0	0	0	1	0	0	0	11393	1116	39	1	502	1	PAFAH1B1	17	2573541	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	345950	2573541	78621669	3663	8131										
CAMKK1	84254	broad.mit.edu	37	chr17	3773125	3773125	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcaccccaattctcgtctcGggattcttgtctaacatctt	7	13	5	0	rs147240137		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:3773125G>A	ENST00000348335.2	-	13	1330	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	CAMKK1_ENST00000158166.5_Silent_p.P432P|CAMKK1_ENST00000381771.2_Silent_p.P432P|CAMKK1_ENST00000381769.2_Silent_p.P421P	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	394	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TTCTCGTCTCGGGATTCTTGT	0.572																																						ENST00000381771.2																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(1294-1296)ccC>ccT		calcium/calmodulin-dependent protein kinase kinase 1, alpha							166	147	153					17																	3773125		2203	4300	6503	SO:0001819	synonymous_variant	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3773125G>A	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.1182C>T	17.37:g.3773125G>A			Somatic				CAMKK1_ENST00000348335.2_Silent_p.P394P|CAMKK1_ENST00000158166.5_Silent_p.P432P|CAMKK1_ENST00000381769.2_Silent_p.P421P	p.P432P			WXS	Illumina GAIIx	Phase_I	Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	14	1443	-			394					Q9BQH3	Silent	SNP	ENST00000348335.2	37	c.1296C>T	CCDS11038.1																																																																																				0.572	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		21	76	0	0	0	1	0	21	76					A	3773125	G	A	3773125	2	1	48	1	0	0	0	0	0	0	0	1	2608	1103	39	1		1	CAMKK1	17	3773125	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1199584	3773125	77422085	3664	8132										
ZZEF1	23140	broad.mit.edu	37	chr17	3974124	3974124	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgtatgaatcctttgaaaAgttctgaatatggcccacag	8	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:3974124A>C	ENST00000381638.2	-	26	4053	c.3929T>G	c.(3928-3930)cTt>cGt	p.L1310R		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1310							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						TCCTTTGAAAAGTTCTGAATA	0.463																																						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.(3928-3930)cTt>cGt		zinc finger, ZZ-type with EF-hand domain 1							128	124	126					17																	3974124		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3974124A>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.3929T>G	17.37:g.3974124A>C	ENSP00000371051:p.Leu1310Arg		Somatic					p.L1310R	NM_015113.3	NP_055928.3	WXS	Illumina GAIIx	Phase_I	O43149	ZZEF1_HUMAN			26	4053	-			1310					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.3929T>G	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.039266	0.75617	.	.	ENSG00000074755	ENST00000381638	T	0.36878	1.23	6.17	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	M	0.62723	1.935	0.58432	D	0.999998	D	0.89917	1.0	D	0.73380	0.98	T	0.58323	-0.7656	10	0.87932	D	0	-8.5135	12.2794	0.54755	0.9345:0.0:0.0655:0.0	.	1310	O43149	ZZEF1_HUMAN	R	1310	ENSP00000371051:L1310R	ENSP00000371051:L1310R	L	-	2	0	ZZEF1	3920873	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.905000	0.69893	1.163000	0.42636	0.533000	0.62120	CTT		0.463	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		30	67	0	0	0	1	0	30	67					C	3974124	A	C	3974124	3	2	48	1	0	0	0	0	1	0	0	0	18270	72	3	4	5076	4	ZZEF1	17	3974124	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	200999	3974124	77221086	3665	8133										
UBE2G1	7326	broad.mit.edu	37	chr17	4210374	4210374	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcggtagagatcattgtcatCtattaaacctgcagaaaagc	8	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:4210374C>T	ENST00000396981.2	-	2	256	c.91G>A	c.(91-93)Gat>Aat	p.D31N	UBE2G1_ENST00000572484.1_5'UTR	NM_003342.4	NP_003333.1	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	31					protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|ubiquitin-dependent protein catabolic process (GO:0006511)	extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(2)|lung(4)|skin(1)	7						TCATTGTCATCTATTAAACCT	0.353																																						ENST00000396981.2																			0				large_intestine(2)|lung(4)|skin(1)	7						c.(91-93)Gat>Aat		ubiquitin-conjugating enzyme E2G 1							104	103	103					17																	4210374		2203	4300	6503	SO:0001583	missense	7326				protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr17:4210374C>T	BC026288	CCDS32532.1	17p13.2	2014-05-30	2011-05-19		ENSG00000132388	ENSG00000132388		"Ubiquitin-conjugating enzymes E2"	12482	protein-coding gene	gene with protein product		601569	"ubiquitin-conjugating enzyme E2G 1 (homologous to C. elegans UBC7)", "ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, C. elegans)", "ubiquitin-conjugating enzyme E2G 1 (UBC7 homolog, yeast)"	UBE2G		8893823	Standard	NM_003342		Approved	UBC7	uc002fxs.3	P62253	OTTHUMG00000177826	ENST00000396981.2:c.91G>A	17.37:g.4210374C>T	ENSP00000380178:p.Asp31Asn		Somatic				UBE2G1_ENST00000572484.1_5'UTR	p.D31N	NM_003342.4	NP_003333.1	WXS	Illumina GAIIx	Phase_I	P62253	UB2G1_HUMAN			2	256	-			31					B2R7P2|D3DTK0|Q99462	Missense_Mutation	SNP	ENST00000396981.2	37	c.91G>A	CCDS32532.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217185	0.58560	.	.	ENSG00000132388	ENST00000396981	T	0.38401	1.14	5.55	5.55	0.83447	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.149471	0.64402	D	0.000017	T	0.33585	0.0868	L	0.41236	1.265	0.80722	D	1	B	0.14012	0.009	B	0.10450	0.005	T	0.04320	-1.0960	10	0.28530	T	0.3	-21.9893	18.8702	0.92309	0.0:1.0:0.0:0.0	.	31	P62253	UB2G1_HUMAN	N	31	ENSP00000380178:D31N	ENSP00000380178:D31N	D	-	1	0	UBE2G1	4157123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.611000	0.67674	2.785000	0.95823	0.591000	0.81541	GAT		0.353	UBE2G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439099.1	NM_003342		23	30	0	0	0	1	0	23	30					T	4210374	C	T	4210374	3	4	48	1	0	0	0	0	1	0	0	0	16871	913	32	3	437	3	UBE2G1	17	4210374	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	236250	4210374	76984836	3666	8134										
PELP1	27043	broad.mit.edu	37	chr17	4576196	4576196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgggaggtccagggcgtgccGagggcacagggcctgctgag	20	10	0	1	rs558960670		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:4576196G>A	ENST00000574876.1	-	16	2107	c.2090C>T	c.(2089-2091)tCg>tTg	p.S697L	PELP1_ENST00000269230.7_Missense_Mutation_p.S607L|PELP1_ENST00000301396.4_Missense_Mutation_p.S841L|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_Missense_Mutation_p.S550L|PELP1_ENST00000572293.1_Missense_Mutation_p.S747L			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	697	Pro-rich.				cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.S747L(2)|p.S841L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AGGGCGTGCCGAGGGCACAGG	0.677																																						ENST00000301396.4																			3	Substitution - Missense(3)	p.S747L(2)|p.S841L(1)	endometrium(2)|breast(1)	breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(2521-2523)tCg>tTg		proline, glutamate and leucine rich protein 1							33	39	37					17																	4576196		1988	4143	6131	SO:0001583	missense	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4576196G>A		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"proline, glutamic acid and leucine rich protein 1"			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.2090C>T	17.37:g.4576196G>A	ENSP00000461625:p.Ser697Leu		Somatic				PELP1_ENST00000269230.7_Missense_Mutation_p.S607L|PELP1_ENST00000572293.1_Missense_Mutation_p.S747L|PELP1_ENST00000436683.2_Missense_Mutation_p.S550L|PELP1_ENST00000574876.1_Missense_Mutation_p.S697L	p.S841L			WXS	Illumina GAIIx	Phase_I	Q8IZL8	PELP1_HUMAN			16	2747	-			697			Pro-rich.		O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	c.2522C>T	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	G	6.848	0.525717	0.13066	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;T	0.54071	0.82;0.59;1.31	3.99	3.99	0.46301	.	0.532223	0.17115	N	0.186478	T	0.38480	0.1042	N	0.19112	0.55	0.09310	N	0.99999	B;B	0.25105	0.118;0.118	B;B	0.18561	0.022;0.022	T	0.39840	-0.9594	10	0.62326	D	0.03	-0.4355	14.4254	0.67212	0.0:0.0:1.0:0.0	.	550;697	E7EV54;Q8IZL8	.;PELP1_HUMAN	L	841;607;550	ENSP00000301396:S841L;ENSP00000269230:S607L;ENSP00000416231:S550L	ENSP00000269230:S607L	S	-	2	0	AC091153.1	4522945	0.003000	0.15002	0.047000	0.18901	0.093000	0.18481	1.174000	0.31932	2.514000	0.84764	0.655000	0.94253	TCG		0.677	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		25	37	0	0	0	1	0	25	37					A	4576196	G	A	4576196	3	1	48	1	0	0	0	0	1	0	0	0	11734	1059	37	1	1310	1	PELP1	17	4576196	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	365822	4576196	76619014	3667	8135										
CAMTA2	23125	broad.mit.edu	37	chr17	4873207	4873207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcccctgaccttgtactttCggaaggccgtctggatgact	11	12	1	2	rs184255864	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:4873207C>T	ENST00000348066.3	-	18	3302	c.3179G>A	c.(3178-3180)cGa>cAa	p.R1060Q	SPAG7_ENST00000575142.1_5'Flank|CAMTA2_ENST00000361571.5_Missense_Mutation_p.R1059Q|SPAG7_ENST00000206020.3_5'Flank|CAMTA2_ENST00000358183.4_Missense_Mutation_p.R1060Q|SPAG7_ENST00000571023.1_5'Flank|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000381311.5_Missense_Mutation_p.R1062Q|CAMTA2_ENST00000572543.1_Missense_Mutation_p.R1065Q|RP5-1050D4.3_ENST00000576752.1_RNA|SPAG7_ENST00000573366.1_5'Flank|CAMTA2_ENST00000414043.3_Missense_Mutation_p.R1083Q	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1060	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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						CTTGTACTTTCGGAAGGCCGT	0.547													C|||	2	0.000399361	0	0.0029	5008	,	,		20629	0		0	False		,,,				2504	0					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.(3175-3177)cGa>cAa		calmodulin binding transcription activator 2							138	127	131					17																	4873207		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.chr17:4873207C>T	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.3179G>A	17.37:g.4873207C>T	ENSP00000321813:p.Arg1060Gln		Somatic				CAMTA2_ENST00000572543.1_Missense_Mutation_p.R1065Q|CAMTA2_ENST00000414043.3_Missense_Mutation_p.R1083Q|CAMTA2_ENST00000358183.4_Missense_Mutation_p.R1060Q|CAMTA2_ENST00000381311.5_Missense_Mutation_p.R1062Q|CAMTA2_ENST00000348066.3_Missense_Mutation_p.R1060Q	p.R1059Q	NM_001171168.1	NP_001164639.1	WXS	Illumina GAIIx	Phase_I	O94983	CMTA2_HUMAN			17	3587	-			1060			IQ 1.		B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.3176G>A	CCDS11063.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.88	3.909192	0.72868	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.73047	1.51;-0.71;0.37;-0.71;0.4	4.74	4.74	0.60224	.	0.075779	0.51477	D	0.000084	T	0.74450	0.3718	L	0.27053	0.805	0.47511	D	0.999446	B;D;B;D	0.89917	0.041;1.0;0.002;1.0	B;D;B;D	0.66847	0.002;0.947;0.001;0.947	T	0.77885	-0.2421	10	0.72032	D	0.01	-3.7448	15.3153	0.74069	0.0:1.0:0.0:0.0	.	1083;1062;1060;1059	E7EWU5;O94983-3;O94983;O94983-4	.;.;CMTA2_HUMAN;.	Q	1083;1062;1059;1060;1060	ENSP00000412886:R1083Q;ENSP00000370712:R1062Q;ENSP00000354828:R1059Q;ENSP00000350910:R1060Q;ENSP00000321813:R1060Q	ENSP00000321813:R1060Q	R	-	2	0	CAMTA2	4813931	1.000000	0.71417	0.968000	0.41197	0.824000	0.46624	7.596000	0.82721	2.484000	0.83849	0.555000	0.69702	CGA		0.547	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		89	134	0	0	0	1	0	89	134					T	4873207	C	T	4873207	3	4	48	1	0	0	0	0	1	0	0	0	2616	884	31	1	503	1	CAMTA2	17	4873207	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	297011	4873207	76322003	3668	8136										
ZFP3	124961	broad.mit.edu	37	chr17	4996205	4996205	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaacttatcatacatcagaGaattcacactggagagaagc	7	10	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:4996205G>T	ENST00000318833.3	+	2	1742	c.1406G>T	c.(1405-1407)aGa>aTa	p.R469I		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						ATACATCAGAGAATTCACACT	0.428																																						ENST00000318833.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						c.(1405-1407)aGa>aTa		ZFP3 zinc finger protein							71	72	72					17																	4996205		2203	4300	6503	SO:0001583	missense	124961				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:4996205G>T	BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"Zinc fingers, C2H2-type"	12861	protein-coding gene	gene with protein product		194480	"zinc finger protein homologous to Zfp-3 in mouse", "zinc finger protein 3 homolog (mouse)"				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.1406G>T	17.37:g.4996205G>T	ENSP00000320347:p.Arg469Ile		Somatic					p.R469I	NM_153018.2	NP_694563.1	WXS	Illumina GAIIx	Phase_I	Q96NJ6	ZFP3_HUMAN			2	1742	+			469					A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	c.1406G>T	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063898	0.55432	.	.	ENSG00000180787	ENST00000318833	T	0.24908	1.83	4.01	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39909	N	0.001230	T	0.42314	0.1197	M	0.80982	2.52	0.45295	D	0.998291	D	0.60160	0.987	P	0.56434	0.798	T	0.40194	-0.9576	10	0.72032	D	0.01	-17.7259	7.8012	0.29176	0.11:0.0:0.89:0.0	.	469	Q96NJ6	ZFP3_HUMAN	I	469	ENSP00000320347:R469I	ENSP00000320347:R469I	R	+	2	0	ZFP3	4936929	0.020000	0.18652	1.000000	0.80357	0.999000	0.98932	1.469000	0.35343	2.532000	0.85374	0.650000	0.86243	AGA		0.428	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018		16	42	1	0	5.01169e-05	1	5.45927e-05	16	42					T	4996205	G	T	4996205	3	4	48	1	0	0	0	0	1	0	0	0	17658	942	33	2	1408	2	ZFP3	17	4996205	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	122998	4996205	76199005	3669	8137										
USP6	9098	broad.mit.edu	37	chr17	5064861	5064861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaatatccattcactctacGagttgtgcagaaagatggga	9	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:5064861G>A	ENST00000574788.1	+	32	5097	c.2867G>A	c.(2866-2868)cGa>cAa	p.R956Q	USP6_ENST00000304328.5_Missense_Mutation_p.R639Q|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.R956Q			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	956	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTCACTCTACGAGTTGTGCAG	0.393			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.(2866-2868)cGa>cAa		ubiquitin specific peptidase 6 (Tre-2 oncogene)							132	123	126					17																	5064861		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5064861G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2867G>A	17.37:g.5064861G>A	ENSP00000460380:p.Arg956Gln		Somatic				USP6_ENST00000250066.6_Missense_Mutation_p.R956Q|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.R639Q	p.R956Q			WXS	Illumina GAIIx	Phase_I	P35125	UBP6_HUMAN			32	5097	+			956					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.2867G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783259	0.49891	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.18016	2.58;2.24	2.45	2.45	0.29901	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.28764	0.0713	L	0.39514	1.22	0.42171	D	0.991641	D;D	0.76494	0.999;0.983	D;P	0.77557	0.99;0.456	T	0.02877	-1.1099	10	0.52906	T	0.07	.	10.7278	0.46079	0.0:0.0:1.0:0.0	.	639;956	P35125-2;P35125	.;UBP6_HUMAN	Q	956;639	ENSP00000250066:R956Q;ENSP00000305473:R639Q	ENSP00000250066:R956Q	R	+	2	0	USP6	5005585	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	7.498000	0.81546	1.389000	0.46526	0.134000	0.15878	CGA		0.393	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		16	36	0	0	0	1	0	16	36					A	5064861	G	A	5064861	3	1	48	1	0	0	0	0	1	0	0	0	17101	1058	37	1	2957	1	USP6	17	5064861	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	68656	5064861	76130349	3670	8138										
ZNF594	84622	broad.mit.edu	37	chr17	5085278	5085278	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgattacaccaataaactttCttttcctggtgagttctctg	6	9	2	2	rs544261849		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:5085278C>A	ENST00000399604.4	-	1	2414	c.2274G>T	c.(2272-2274)aaG>aaT	p.K758N	ZNF594_ENST00000575779.1_Missense_Mutation_p.K758N			Q96JF6	ZN594_HUMAN	zinc finger protein 594	758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						AATAAACTTTCTTTTCCTGGT	0.418													c|||	1	0.000199681	0	0	5008	,	,		22229	0		0	False		,,,				2504	0.001					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.(2272-2274)aaG>aaT		zinc finger protein 594							208	210	209					17																	5085278		1972	4166	6138	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085278C>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.2274G>T	17.37:g.5085278C>A	ENSP00000382513:p.Lys758Asn		Somatic				ZNF594_ENST00000575779.1_Missense_Mutation_p.K758N	p.K758N			WXS	Illumina GAIIx	Phase_I	Q96JF6	ZN594_HUMAN			1	2414	-			758					Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.2274G>T	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	C	3.615	-0.078810	0.07141	.	.	ENSG00000180626	ENST00000399604	T	0.15487	2.42	1.04	-2.08	0.07254	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12902	0.0313	L	0.47078	1.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24941	-1.0146	9	0.87932	D	0	.	3.4819	0.07605	0.2192:0.5269:0.0:0.2539	.	758	Q96JF6	ZN594_HUMAN	N	758	ENSP00000382513:K758N	ENSP00000382513:K758N	K	-	3	2	ZNF594	5026002	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.062000	0.14389	-1.859000	0.01156	-1.996000	0.00446	AAG		0.418	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		55	124	1	0	2.01807e-28	1	2.86628e-28	55	124					A	5085278	C	A	5085278	3	1	48	1	0	0	0	0	1	0	0	0	18039	912	32	2	153	2	ZNF594	17	5085278	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	20417	5085278	76109932	3671	8139										
MIS12	79003	broad.mit.edu	37	chr17	5392583	5392583	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtacaagactgaattatgtaCtaagcaggcccttcttgcag	9	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:5392583C>A	ENST00000381165.3	+	3	954	c.401C>A	c.(400-402)aCt>aAt	p.T134N	MIS12_ENST00000573759.1_Missense_Mutation_p.T134N|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						GAATTATGTACTAAGCAGGCC	0.378																																						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.(400-402)aCt>aAt		MIS12 kinetochore complex component							116	113	114					17																	5392583		2203	4300	6503	SO:0001583	missense	79003				cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr17:5392583C>A	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.401C>A	17.37:g.5392583C>A	ENSP00000370557:p.Thr134Asn		Somatic				MIS12_ENST00000573759.1_Missense_Mutation_p.T134N	p.T134N	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	954	+			134						Missense_Mutation	SNP	ENST00000381165.3	37	c.401C>A	CCDS11074.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116419	0.56505	.	.	ENSG00000167842	ENST00000381165	T	0.46819	0.86	5.81	4.85	0.62838	.	0.265583	0.42548	D	0.000690	T	0.43033	0.1229	L	0.36672	1.1	0.09310	N	1	P	0.40302	0.712	B	0.41440	0.357	T	0.41502	-0.9505	10	0.66056	D	0.02	-4.0325	14.3024	0.66362	0.0:0.9292:0.0:0.0708	.	134	Q9H081	MIS12_HUMAN	N	134	ENSP00000370557:T134N	ENSP00000370557:T134N	T	+	2	0	MIS12	5333307	0.315000	0.24571	0.205000	0.23548	0.985000	0.73830	2.431000	0.44775	1.475000	0.48197	-0.191000	0.12829	ACT		0.378	MIS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219827.1	NM_024039		10	99	1	0	0.0581538	1	0.0589718	10	99					A	5392583	C	A	5392583	3	1	48	1	0	0	0	0	1	0	0	0	9603	565	20	5	403	5	MIS12	17	5392583	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	307305	5392583	75802627	3672	8140										
PITPNM3	83394	broad.mit.edu	37	chr17	6358759	6358759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggctggctctgggcccgctCgggcttggggttggcggcgg	22	11	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:6358759C>T	ENST00000262483.8	-	20	2911	c.2824G>A	c.(2824-2826)Gag>Aag	p.E942K	PITPNM3_ENST00000421306.3_Missense_Mutation_p.E906K|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	942					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TGGGCCCGCTCGGGCTTGGGG	0.726																																						ENST00000262483.8																			0											c.(2824-2826)Gag>Aag									12	18	16					17																	6358759		2149	4262	6411	SO:0001583	missense	0							g.chr17:6358759C>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2824G>A	17.37:g.6358759C>T	ENSP00000262483:p.Glu942Lys		Somatic				ACKR6_ENST00000421306.3_Missense_Mutation_p.E906K|ACKR6_ENST00000576664.1_5'UTR	p.E942K	NM_031220.3	NP_112497.2	WXS	Illumina GAIIx	Phase_I					20	2911	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.2824G>A	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	C	36	5.859584	0.97036	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.51817	0.69;0.69	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.67942	0.2947	M	0.77820	2.39	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.986	T	0.67252	-0.5717	10	0.32370	T	0.25	.	15.693	0.77469	0.0:1.0:0.0:0.0	.	906;942	F8WEW5;Q9BZ71	.;PITM3_HUMAN	K	942;906	ENSP00000262483:E942K;ENSP00000407882:E906K	ENSP00000262483:E942K	E	-	1	0	PITPNM3	6299483	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.746000	0.85057	2.371000	0.80710	0.505000	0.49811	GAG		0.726	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		16	33	0	0	0	1	0	16	33					T	6358759	C	T	6358759	3	4	48	1	0	0	0	0	1	0	0	0	11961	893	31	1	104	1	PITPNM3	17	6358759	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	966176	6358759	74836451	3673	8141										
KIAA0753	9851	broad.mit.edu	37	chr17	6493188	6493188	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaacgactacagtagtcaccGatgctgtgctgcatacccgg	10	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:6493188G>A	ENST00000361413.3	-	18	3055	c.2697C>T	c.(2695-2697)atC>atT	p.I899I	KIAA0753_ENST00000589033.1_Silent_p.I355I|KIAA0753_ENST00000542606.1_Silent_p.I600I|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000572370.1_Silent_p.I600I	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	899						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		AGTAGTCACCGATGCTGTGCT	0.512																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(2695-2697)atC>atT		KIAA0753							107	106	107					17																	6493188		1916	4129	6045	SO:0001819	synonymous_variant	9851					centrosome		g.chr17:6493188G>A		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.2697C>T	17.37:g.6493188G>A			Somatic				KIAA0753_ENST00000572370.1_Silent_p.I600I|KIAA0753_ENST00000589033.1_Silent_p.I355I|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Silent_p.I600I	p.I899I	NM_014804.2	NP_055619.2	WXS	Illumina GAIIx	Phase_I	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	18	3055	-			899					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Silent	SNP	ENST00000361413.3	37	c.2697C>T	CCDS42247.1																																																																																				0.512	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		20	42	0	0	0	1	0	20	42					A	6493188	G	A	6493188	2	1	48	1	0	0	0	0	0	0	0	1	8200	1048	37	1		1	KIAA0753	17	6493188	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	134429	6493188	74702022	3674	8142										
FBXO39	162517	broad.mit.edu	37	chr17	6690193	6690193	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagttgttttacttcaaaaTctgggctttccttgatgtta	8	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:6690193T>G	ENST00000321535.4	+	3	1248	c.1118T>G	c.(1117-1119)aTc>aGc	p.I373S		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	373										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TACTTCAAAATCTGGGCTTTC	0.463																																						ENST00000321535.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						c.(1117-1119)aTc>aGc		F-box protein 39							111	104	107					17																	6690193		2203	4300	6503	SO:0001583	missense	162517							g.chr17:6690193T>G	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"F-boxes /  "other""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.1118T>G	17.37:g.6690193T>G	ENSP00000321386:p.Ile373Ser		Somatic					p.I373S	NM_153230.2	NP_694962.1	WXS	Illumina GAIIx	Phase_I	Q8N4B4	FBX39_HUMAN			3	1248	+			373						Missense_Mutation	SNP	ENST00000321535.4	37	c.1118T>G	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.660430	0.47572	.	.	ENSG00000177294	ENST00000321535	T	0.55930	0.49	5.57	5.57	0.84162	.	0.184693	0.38111	N	0.001816	T	0.39835	0.1093	N	0.24115	0.695	0.43579	D	0.995912	P	0.38195	0.622	B	0.36666	0.23	T	0.44711	-0.9310	10	0.87932	D	0	-35.6311	12.4228	0.55529	0.0:0.0:0.0:1.0	.	373	Q8N4B4	FBX39_HUMAN	S	373	ENSP00000321386:I373S	ENSP00000321386:I373S	I	+	2	0	FBXO39	6630917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.230000	0.65321	2.260000	0.74910	0.528000	0.53228	ATC		0.463	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		39	65	0	0	0	1	0	39	65					G	6690193	T	G	6690193	3	3	48	1	0	0	0	0	1	0	0	0	5755	1435	50	4	1124	4	FBXO39	17	6690193	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	197005	6690193	74505017	3675	8143										
CLEC10A	10462	broad.mit.edu	37	chr17	6981396	6981396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagatggcagggcccagagCagagacgctgcaggagggac	19	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:6981396C>T	ENST00000254868.4	-	3	432	c.104G>A	c.(103-105)tGc>tAc	p.C35Y	CLEC10A_ENST00000416562.2_Missense_Mutation_p.C35Y|CLEC10A_ENST00000571664.1_Missense_Mutation_p.C35Y|CLEC10A_ENST00000576617.1_Missense_Mutation_p.C35Y	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	35			C -> R (in dbSNP:rs90951). {ECO:0000269|PubMed:8598452}.		endocytosis (GO:0006897)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GGGCCCAGAGCAGAGACGCTG	0.622																																						ENST00000576617.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(103-105)tGc>tAc		C-type lectin domain family 10, member A							104	107	106					17																	6981396		2203	4300	6503	SO:0001583	missense	10462				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding	g.chr17:6981396C>T	D50532	CCDS11087.1, CCDS45597.1	17p13.2	2014-05-20	2005-02-09	2005-02-11		ENSG00000132514		"C-type lectin domain containing", "CD molecules"	16916	protein-coding gene	gene with protein product	"macrophage lectin 2 (calcium dependent)"	605999	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)"	CLECSF13, CLECSF14		8598452	Standard	XM_005256411		Approved	HML2, HML, CD301	uc002gej.3	Q8IUN9		ENST00000254868.4:c.104G>A	17.37:g.6981396C>T	ENSP00000254868:p.Cys35Tyr		Somatic				CLEC10A_ENST00000254868.4_Missense_Mutation_p.C35Y|CLEC10A_ENST00000416562.2_Missense_Mutation_p.C35Y|CLEC10A_ENST00000571664.1_Missense_Mutation_p.C35Y	p.C35Y			WXS	Illumina GAIIx	Phase_I	Q8IUN9	CLC10_HUMAN			3	373	-			35		C -> R (in dbSNP:rs90951).			A8K8J8|Q14538|Q6PIW3	Missense_Mutation	SNP	ENST00000254868.4	37	c.104G>A	CCDS11087.1	.	.	.	.	.	.	.	.	.	.	C	7.878	0.729522	0.15507	.	.	ENSG00000132514	ENST00000254868;ENST00000416562	T;T	0.20738	2.05;2.05	4.43	1.17	0.20885	Hepatic lectin, N-terminal (1);	0.629715	0.15066	N	0.282488	T	0.21509	0.0518	M	0.66297	2.02	0.09310	N	1	B;B;B	0.15719	0.014;0.001;0.012	B;B;B	0.25506	0.005;0.002;0.061	T	0.29212	-1.0019	10	0.72032	D	0.01	.	5.0079	0.14297	0.4187:0.4758:0.0:0.1055	.	35;35;35	Q8IUN9-3;Q8IUN9;Q8IUN9-2	.;CLC10_HUMAN;.	Y	35	ENSP00000254868:C35Y;ENSP00000414938:C35Y	ENSP00000254868:C35Y	C	-	2	0	CLEC10A	6922120	0.076000	0.21285	0.000000	0.03702	0.009000	0.06853	0.337000	0.19841	0.174000	0.19809	-0.339000	0.08088	TGC		0.622	CLEC10A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439837.2	NM_006344		7	179	0	0	0	1	0	7	179					T	6981396	C	T	6981396	3	4	48	1	0	0	0	0	1	0	0	0	3497	710	25	3	883	3	CLEC10A	17	6981396	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	291203	6981396	74213814	3676	8144										
DLG4	1742	broad.mit.edu	37	chr17	7106763	7106763	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttaggccccttgatgagcTtgatctccatgaccttctca	7	13	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7106763T>G	ENST00000399506.2	-	6	676	c.485A>C	c.(484-486)aAg>aCg	p.K162T	DLG4_ENST00000399510.2_Missense_Mutation_p.K205T|DLG4_ENST00000302955.6_Missense_Mutation_p.K159T|DLG4_ENST00000485100.1_Missense_Mutation_p.K159T			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	162	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)	CTTGATGAGCTTGATCTCCAT	0.602																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(613-615)aAg>aCg		discs, large homolog 4 (Drosophila)							66	74	71					17																	7106763		2000	4151	6151	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.chr17:7106763T>G	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.485A>C	17.37:g.7106763T>G	ENSP00000382425:p.Lys162Thr		Somatic				DLG4_ENST00000399506.2_Missense_Mutation_p.K162T|DLG4_ENST00000485100.1_Missense_Mutation_p.K159T|DLG4_ENST00000302955.6_Missense_Mutation_p.K159T	p.K205T	NM_001365.3	NP_001356.1	WXS	Illumina GAIIx	Phase_I	P78352	DLG4_HUMAN			8	1466	-			162			PDZ 2.		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.614A>C		.	.	.	.	.	.	.	.	.	.	T	17.37	3.371797	0.61624	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674;ENST00000451807;ENST00000447163	T;T;T;T	0.26373	1.74;1.74;1.74;1.74	4.78	4.78	0.61160	PDZ/DHR/GLGF (3);	.	.	.	.	T	0.25082	0.0609	N	0.02802	-0.49	0.48236	D	0.999614	P;B;D;P;D	0.63880	0.948;0.24;0.993;0.745;0.993	P;P;D;P;D	0.76575	0.867;0.453;0.988;0.768;0.978	T	0.36065	-0.9763	9	0.38643	T	0.18	.	12.2851	0.54788	0.0:0.0:0.0:1.0	.	202;162;159;159;205	B9EGL1;P78352;G5E939;O14909;P78352-2	.;DLG4_HUMAN;.;.;.	T	162;159;205;205;102;205;195;192	ENSP00000382425:K162T;ENSP00000307471:K159T;ENSP00000382428:K205T;ENSP00000388122:K192T	ENSP00000293813:K205T	K	-	2	0	DLG4	7047487	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.963000	0.70372	1.789000	0.52484	0.374000	0.22700	AAG		0.602	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		36	64	0	0	0	1	0	36	64					G	7106763	T	G	7106763	3	3	48	1	0	0	0	0	1	0	0	0	4559	1609	56	4	1749	4	DLG4	17	7106763	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	125367	7106763	74088447	3677	8145										
SLC2A4	6517	broad.mit.edu	37	chr17	7186949	7186949	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttcctcattggtatcatctCtcagtggcttggaaggttcg	10	10	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7186949C>A	ENST00000317370.8	+	3	576	c.308C>A	c.(307-309)tCt>tAt	p.S103Y	SLC2A4_ENST00000424875.2_Missense_Mutation_p.S93Y|SLC2A4_ENST00000571308.1_Missense_Mutation_p.S103Y|RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	103					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGTATCATCTCTCAGTGGCTT	0.617																																						ENST00000317370.8																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(307-309)tCt>tAt		solute carrier family 2 (facilitated glucose transporter), member 4							88	90	89					17																	7186949		2203	4300	6503	SO:0001583	missense	6517				carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding	g.chr17:7186949C>A	M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"Solute carriers"	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.308C>A	17.37:g.7186949C>A	ENSP00000320935:p.Ser103Tyr		Somatic				SLC2A4_ENST00000424875.2_Missense_Mutation_p.S93Y|SLC2A4_ENST00000571308.1_Missense_Mutation_p.S103Y|RP1-4G17.2_ENST00000576271.1_RNA	p.S103Y	NM_001042.2	NP_001033.1	WXS	Illumina GAIIx	Phase_I	P14672	GTR4_HUMAN			3	576	+			103					Q05BQ3|Q14CX2	Missense_Mutation	SNP	ENST00000317370.8	37	c.308C>A	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241083	0.58995	.	.	ENSG00000181856	ENST00000317370;ENST00000424875	T;D	0.83250	0.09;-1.7	5.31	4.34	0.51931	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.84822	0.5557	M	0.69358	2.11	0.43242	D	0.995157	P;P	0.51791	0.892;0.948	P;B	0.50049	0.629;0.359	D	0.86385	0.1732	10	0.87932	D	0	.	11.9107	0.52737	0.0:0.9159:0.0:0.0841	.	103;93	P14672;F5H081	GTR4_HUMAN;.	Y	103;93	ENSP00000320935:S103Y;ENSP00000396887:S93Y	ENSP00000320935:S103Y	S	+	2	0	SLC2A4	7127673	0.132000	0.22450	1.000000	0.80357	0.994000	0.84299	1.086000	0.30853	1.477000	0.48234	0.561000	0.74099	TCT		0.617	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3			27	62	1	0	1.17739e-12	1	1.49076e-12	27	62					A	7186949	C	A	7186949	3	1	48	1	0	0	0	0	1	0	0	0	14561	913	32	2	318	2	SLC2A4	17	7186949	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	80186	7186949	74008261	3678	8146										
YBX2	51087	broad.mit.edu	37	chr17	7192940	7192940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtaggggcggtttcgtgggCgctggggctcaggccgggaa	21	8	1	0	rs142210139		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7192940C>T	ENST00000007699.5	-	7	1016	c.953G>A	c.(952-954)cGc>cAc	p.R318H	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	318	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						GTTTCGTGGGCGCTGGGGCTC	0.721																																						ENST00000007699.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(952-954)cGc>cAc		Y box binding protein 2		C	HIS/ARG	0,4406		0,0,2203	37	37	37		953	4.5	1	17	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	no	missense	YBX2	NM_015982.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	318/365	7192940	1,13005	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.chr17:7192940C>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.953G>A	17.37:g.7192940C>T	ENSP00000007699:p.Arg318His		Somatic					p.R318H	NM_015982.3	NP_057066.2	WXS	Illumina GAIIx	Phase_I	Q9Y2T7	YBOX2_HUMAN			7	1016	-			318			Pro-rich.|Required for mRNA-binding.		D3DTP1|Q8N4P0	Missense_Mutation	SNP	ENST00000007699.5	37	c.953G>A	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.285951	0.59867	0.0	1.16E-4	ENSG00000006047	ENST00000007699	T	0.38560	1.13	5.51	4.54	0.55810	.	0.412591	0.26136	N	0.026128	T	0.54549	0.1865	M	0.75884	2.315	0.29269	N	0.870782	D	0.76494	0.999	P	0.57101	0.813	T	0.57985	-0.7716	10	0.87932	D	0	-7.0237	7.669	0.28447	0.1615:0.7551:0.0:0.0833	.	318	Q9Y2T7	YBOX2_HUMAN	H	318	ENSP00000007699:R318H	ENSP00000007699:R318H	R	-	2	0	YBX2	7133664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.304000	0.51866	1.475000	0.48197	0.655000	0.94253	CGC		0.721	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		15	32	0	0	0	1	0	15	32					T	7192940	C	T	7192940	3	4	48	1	0	0	0	0	1	0	0	0	17485	768	27	1	149	1	YBX2	17	7192940	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5991	7192940	74002270	3679	8147										
NEURL4	84461	broad.mit.edu	37	chr17	7219540	7219540	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagtgagggtcaggaggttCtccaagggcagcggaagggg	20	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7219540C>A	ENST00000399464.2	-	29	4606	c.4591G>T	c.(4591-4593)Gaa>Taa	p.E1531*	NEURL4_ENST00000315614.7_Nonsense_Mutation_p.E1529*|GPS2_ENST00000380728.2_5'Flank|GPS2_ENST00000389167.5_5'Flank|RP11-542C16.2_ENST00000575474.1_Intron|GPS2_ENST00000391950.3_5'Flank|NEURL4_ENST00000574120.1_5'Flank|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.E1507*	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1531						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						TCAGGAGGTTCTCCAAGGGCA	0.642																																						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.(4591-4593)Gaa>Taa		neuralized E3 ubiquitin protein ligase 4							55	63	60					17																	7219540		1996	4162	6158	SO:0001587	stop_gained	84461							g.chr17:7219540C>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.4591G>T	17.37:g.7219540C>A	ENSP00000382390:p.Glu1531*		Somatic				NEURL4_ENST00000315614.7_Nonsense_Mutation_p.E1529*|RP11-542C16.2_ENST00000575474.1_Intron|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.E1507*	p.E1531*	NM_032442.2	NP_115818.2	WXS	Illumina GAIIx	Phase_I					29	4606	-								Q6GPI8|Q96IU9|Q9H0B0	Nonsense_Mutation	SNP	ENST00000399464.2	37	c.4591G>T	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	43	10.389018	0.99396	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	.	.	.	4.78	3.74	0.42951	.	0.193906	0.34156	U	0.004219	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-8.8178	11.663	0.51358	0.0:0.8202:0.1798:0.0	.	.	.	.	X	1529;1531	.	ENSP00000319826:E1529X	E	-	1	0	NEURL4	7160264	1.000000	0.71417	0.980000	0.43619	0.998000	0.95712	4.562000	0.60816	2.192000	0.70111	0.563000	0.77884	GAA		0.642	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		19	50	1	0	1.33834e-09	1	1.61283e-09	19	50					A	7219540	C	A	7219540	4	1	48	1	0	0	0	0	0	1	0	0	10356	922	32	2	101	2	NEURL4	17	7219540	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	26600	7219540	73975670	3680	8148										
POLR2A	5430	broad.mit.edu	37	chr17	7404318	7404318	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtaagaagtctctgggcacGtcagctggctccctggtcca	12	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7404318G>A	ENST00000322644.6	+	12	2340	c.1941G>A	c.(1939-1941)acG>acA	p.T647T		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	647					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)				ctCTGGGCACGTCAGCTGGCT	0.542																																						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.(1939-1941)acG>acA		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							211	168	183					17																	7404318		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.chr17:7404318G>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.1941G>A	17.37:g.7404318G>A			Somatic					p.T647T	NM_000937.4	NP_000928.1	WXS	Illumina GAIIx	Phase_I	P24928	RPB1_HUMAN			12	2340	+		Prostate(122;0.173)	647					A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.1941G>A	CCDS32548.1																																																																																				0.542	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		21	43	0	0	0	1	0	21	43					A	7404318	G	A	7404318	2	1	48	1	0	0	0	0	0	0	0	1	12223	1132	40	1		1	POLR2A	17	7404318	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	184778	7404318	73790892	3681	8149										
ATP1B2	482	broad.mit.edu	37	chr17	7557947	7557947	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttccaccctcactccaggTcatcaacttctatgcaggag	6	16	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7557947T>C	ENST00000250111.4	+	5	961	c.554T>C	c.(553-555)gTc>gCc	p.V185A		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	185					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		TCACTCCAGGTCATCAACTTC	0.532																																						ENST00000250111.4																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|bone(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10						c.e5-1		ATPase, Na+/K+ transporting, beta 2 polypeptide							281	233	249					17																	7557947		2203	4300	6503	SO:0001630	splice_region_variant	482				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	g.chr17:7557947T>C	U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"ATPases / P-type"	805	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-2", "sodium pump subunit beta-2", "sodium-potassium ATPase subunit beta 2 (non-catalytic)"	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.553-1T>C	17.37:g.7557947T>C			Somatic					p.V185_splice	NM_001678.3	NP_001669.3	WXS	Illumina GAIIx	Phase_I	P14415	AT1B2_HUMAN		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)	5	961	+		all_cancers(10;0.000178)|Prostate(122;0.081)	185					A0AV17|A8K278|D3DTQ2|O60444	Splice_Site	SNP	ENST00000250111.4	37	c.552_splice	CCDS32550.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.129166	0.56721	.	.	ENSG00000129244	ENST00000250111	T	0.38722	1.12	4.35	4.35	0.52113	.	0.212061	0.39985	N	0.001205	T	0.46034	0.1372	M	0.70275	2.135	0.44946	D	0.997961	B	0.28713	0.22	B	0.34824	0.19	T	0.52756	-0.8533	10	0.87932	D	0	0.5676	11.5777	0.50873	0.0:0.0:0.0:1.0	.	185	P14415	AT1B2_HUMAN	A	185	ENSP00000250111:V185A	ENSP00000250111:V185A	V	+	2	0	ATP1B2	7498672	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.626000	0.61269	1.836000	0.53414	0.414000	0.27820	GTC		0.532	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440234.1	NM_001678	Missense_Mutation	18	136	0	0	0	1	0	18	136					C	7557947	T	C	7557947	5	2	48	1	0	0	0	0	0	0	1	0	1133	1681	58	4	572	4	ATP1B2	17	7557947	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	153629	7557947	73637263	3682	8150										
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	8	12	2	0	rs397516436		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> 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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	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"		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(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	CM951226	TP53	M		c.(637-639)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							132	118	123					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578212G>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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	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_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*	p.R213*	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	769	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	37	0	0	0	1	0	23	37					A	7578212	G	A	7578212	4	1	48	1	0	0	0	0	0	1	0	0	16396	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	20265	7578212	73616998	3683	8151										
TP53	7157	broad.mit.edu	37	chr17	7578389	7578389	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accatcgctatctgagcagcGctcatggtgggggcagcgcc	14	13	2	1	rs587782596		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7578389G>A	ENST00000269305.4	-	5	730	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R181C|TP53_ENST00000445888.2_Missense_Mutation_p.R181C|TP53_ENST00000420246.2_Missense_Mutation_p.R181C|TP53_ENST00000413465.2_Missense_Mutation_p.R181C|TP53_ENST00000455263.2_Missense_Mutation_p.R181C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	181	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R181C(19)|p.0?(8)|p.P177_C182delPHHERC(8)|p.R174fs*24(3)|p.C176_R181delCPHHER(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.R49C(2)|p.R88C(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.R181G(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.R181>XXXXXXX(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGAGCAGCGCTCATGGTGG	0.637		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		63	Substitution - Missense(24)|Deletion - In frame(17)|Deletion - Frameshift(13)|Whole gene deletion(8)|Complex - insertion inframe(1)	p.R181C(19)|p.0?(8)|p.P177_C182delPHHERC(8)|p.R174fs*24(3)|p.C176_R181delCPHHER(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.R49C(2)|p.R88C(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.R181G(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.R181>XXXXXXX(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)	large_intestine(13)|lung(9)|upper_aerodigestive_tract(7)|liver(6)|breast(5)|central_nervous_system(4)|oesophagus(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|stomach(2)|biliary_tract(1)|endometrium(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920672	TP53	M		c.(541-543)Cgc>Tgc	Other conserved DNA damage response genes	tumor protein p53							47	47	47					17																	7578389		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578389G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.541C>T	17.37:g.7578389G>A	ENSP00000269305:p.Arg181Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000455263.2_Missense_Mutation_p.R181C|TP53_ENST00000359597.4_Missense_Mutation_p.R181C|TP53_ENST00000413465.2_Missense_Mutation_p.R181C|TP53_ENST00000445888.2_Missense_Mutation_p.R181C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R181C	p.R181C	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	673	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	181		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.541C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710022	0.48517	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	M	0.83953	2.67	0.80722	D	1	B;B;D;P;B;B;P	0.71674	0.292;0.143;0.998;0.578;0.183;0.173;0.765	B;B;D;B;B;B;B	0.70227	0.078;0.072;0.968;0.104;0.192;0.144;0.182	D	0.97431	1.0015	10	0.87932	D	0	-14.2374	17.1938	0.86887	0.0:0.0:1.0:0.0	.	142;181;181;88;181;181;181	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	181;181;181;181;181;181;170;88;49;88;49	ENSP00000410739:R181C;ENSP00000352610:R181C;ENSP00000269305:R181C;ENSP00000398846:R181C;ENSP00000391127:R181C;ENSP00000391478:R181C;ENSP00000425104:R49C;ENSP00000423862:R88C	ENSP00000269305:R181C	R	-	1	0	TP53	7519114	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	7.058000	0.76676	2.735000	0.93741	0.563000	0.77884	CGC		0.637	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	44	0	0	0	1	0	16	44					A	7578389	G	A	7578389	3	1	48	1	0	0	0	0	1	0	0	0	16396	1087	38	1	757	1	TP53	17	7578389	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	177	7578389	73616821	3684	8152										
WRAP53	55135	broad.mit.edu	37	chr17	7606440	7606440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagaaggactgcaccaatggCgtgaggtcctcagttcaatt	11	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7606440C>T	ENST00000316024.5	+	9	3746	c.1398C>T	c.(1396-1398)ggC>ggT	p.G466G	WRAP53_ENST00000396463.2_Silent_p.G466G|WRAP53_ENST00000534050.1_Silent_p.G433G|WRAP53_ENST00000431639.2_Silent_p.G466G|WRAP53_ENST00000457584.2_Silent_p.G466G|EFNB3_ENST00000226091.2_5'Flank			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	466					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GCACCAATGGCGTGAGGTCCT	0.592																																						ENST00000316024.5																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						c.(1396-1398)ggC>ggT		WD repeat containing, antisense to TP53							49	47	48					17																	7606440		2203	4300	6503	SO:0001819	synonymous_variant	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	g.chr17:7606440C>T	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"WD repeat domain containing"	25522	protein-coding gene	gene with protein product	"telomerase cajal body protein 1", "WD-encoding RNA antisense to p53"	612661	"WD repeat domain 79"	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.1398C>T	17.37:g.7606440C>T			Somatic				WRAP53_ENST00000457584.2_Silent_p.G466G|WRAP53_ENST00000396463.2_Silent_p.G466G|WRAP53_ENST00000431639.2_Silent_p.G466G|WRAP53_ENST00000534050.1_Silent_p.G433G	p.G466G			WXS	Illumina GAIIx	Phase_I	Q9BUR4	WAP53_HUMAN			9	3746	+			466					B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Silent	SNP	ENST00000316024.5	37	c.1398C>T	CCDS11119.1																																																																																				0.592	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		14	48	0	0	0	1	0	14	48					T	7606440	C	T	7606440	2	4	48	1	0	0	0	0	0	0	0	1	17415	755	27	1		1	WRAP53	17	7606440	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	28051	7606440	73588770	3685	8153										
DNAH2	146754	broad.mit.edu	37	chr17	7678128	7678128	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatcctggaagatattcagaAatctctggatatgtatttag	8	5	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7678128A>C	ENST00000572933.1	+	29	6013	c.4553A>C	c.(4552-4554)aAa>aCa	p.K1518T	DNAH2_ENST00000389173.2_Missense_Mutation_p.K1518T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1518	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)				GATATTCAGAAATCTCTGGAT	0.448																																						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.(4552-4554)aAa>aCa		dynein, axonemal, heavy chain 2							83	79	80					17																	7678128		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.chr17:7678128A>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.4553A>C	17.37:g.7678128A>C	ENSP00000458355:p.Lys1518Thr		Somatic				DNAH2_ENST00000389173.2_Missense_Mutation_p.K1518T	p.K1518T			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			29	6013	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1518			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.4553A>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.272361	0.80580	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.70986	-0.53	5.59	4.5	0.54988	Dynein heavy chain, domain-2 (1);	0.108661	0.64402	D	0.000011	D	0.87704	0.6244	H	0.96142	3.775	0.80722	D	1	D	0.56287	0.975	D	0.72075	0.976	D	0.90297	0.4327	10	0.87932	D	0	.	10.8695	0.46875	0.9235:0.0:0.0765:0.0	.	1518	Q9P225	DYH2_HUMAN	T	1518	ENSP00000373825:K1518T	ENSP00000353818:K1518T	K	+	2	0	DNAH2	7618853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.823000	0.62694	2.138000	0.66242	0.519000	0.50382	AAA		0.448	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		26	28	0	0	0	1	0	26	28					C	7678128	A	C	7678128	3	2	48	1	0	0	0	0	1	0	0	0	4604	14	1	4	4663	4	DNAH2	17	7678128	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	71688	7678128	73517082	3686	8154										
DNAH2	146754	broad.mit.edu	37	chr17	7678157	7678157	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atatgtatttagagaccaagCgacatattttcccccgcttc	6	11	0	1	rs576626688		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7678157C>T	ENST00000572933.1	+	29	6042	c.4582C>T	c.(4582-4584)Cga>Tga	p.R1528*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.R1528*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1528	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)				AGAGACCAAGCGACATATTTT	0.463													C|||	1	0.000199681	8e-04	0	5008	,	,		19279	0		0	False		,,,				2504	0					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.(4582-4584)Cga>Tga		dynein, axonemal, heavy chain 2							103	97	99					17																	7678157		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.chr17:7678157C>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.4582C>T	17.37:g.7678157C>T	ENSP00000458355:p.Arg1528*		Somatic				DNAH2_ENST00000389173.2_Nonsense_Mutation_p.R1528*	p.R1528*			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			29	6042	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1528			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	ENST00000572933.1	37	c.4582C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	44	11.081605	0.99513	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	5.44	5.44	0.79542	.	0.056616	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0492	0.89342	0.0:1.0:0.0:0.0	.	.	.	.	X	1528	.	ENSP00000353818:R1528X	R	+	1	2	DNAH2	7618882	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.710000	0.37920	2.565000	0.86533	0.637000	0.83480	CGA		0.463	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		6	59	0	0	0	1	0	6	59					T	7678157	C	T	7678157	4	4	48	1	0	0	0	0	0	1	0	0	4604	760	27	1	4692	1	DNAH2	17	7678157	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	29	7678157	73517053	3687	8155										
DNAH2	146754	broad.mit.edu	37	chr17	7707670	7707670	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actagggaaaaggtgcaagtGatgtcgttggagctggagga	17	4	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7707670G>T	ENST00000572933.1	+	59	10529	c.9069G>T	c.(9067-9069)gtG>gtT	p.V3023V	DNAH2_ENST00000389173.2_Silent_p.V3023V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3023	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(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)				AGGTGCAAGTGATGTCGTTGG	0.542																																						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.(9067-9069)gtG>gtT		dynein, axonemal, heavy chain 2							145	118	127					17																	7707670		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.chr17:7707670G>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.9069G>T	17.37:g.7707670G>T			Somatic				DNAH2_ENST00000389173.2_Silent_p.V3023V	p.V3023V			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			59	10529	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3023			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.9069G>T	CCDS32551.1																																																																																				0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		23	66	1	0	2.32416e-17	1	3.12201e-17	23	66					T	7707670	G	T	7707670	2	4	48	1	0	0	0	0	0	0	0	1	4604	1277	45	2		2	DNAH2	17	7707670	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	29513	7707670	73487540	3688	8156										
DNAH2	146754	broad.mit.edu	37	chr17	7733753	7733753	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtgttacttgaacgcaaaAagttcctgcagcttggctgg	11	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7733753A>C	ENST00000572933.1	+	78	13449	c.11989A>C	c.(11989-11991)Aag>Cag	p.K3997Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.K3997Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3997	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)				TGAACGCAAAAAGTTCCTGCA	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.(11989-11991)Aag>Cag		dynein, axonemal, heavy chain 2							124	122	123					17																	7733753		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.chr17:7733753A>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.11989A>C	17.37:g.7733753A>C	ENSP00000458355:p.Lys3997Gln		Somatic				DNAH2_ENST00000389173.2_Missense_Mutation_p.K3997Q	p.K3997Q			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			78	13449	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3997			AAA 6 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.11989A>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460549	0.84317	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.11385	2.78	5.55	5.55	0.83447	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.41050	0.1142	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.48714	-0.9011	10	0.72032	D	0.01	.	14.8147	0.70024	1.0:0.0:0.0:0.0	.	3958;3997	Q9P225-2;Q9P225	.;DYH2_HUMAN	Q	3958;3997	ENSP00000373825:K3997Q	ENSP00000353818:K3958Q	K	+	1	0	DNAH2	7674478	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.814000	0.75236	2.333000	0.79357	0.533000	0.62120	AAG		0.478	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		35	71	0	0	0	1	0	35	71					C	7733753	A	C	7733753	3	2	48	1	0	0	0	0	1	0	0	0	4604	15	1	4	12295	4	DNAH2	17	7733753	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	26083	7733753	73461457	3689	8157										
DNAH2	146754	broad.mit.edu	37	chr17	7735091	7735091	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgttcctccgctctggggaAaggcaagattataccattgt	10	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7735091A>C	ENST00000572933.1	+	82	14184	c.12724A>C	c.(12724-12726)Aag>Cag	p.K4242Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.K4242Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4242					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)				GCTCTGGGGAAAGGCAAGATT	0.488																																						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.(12724-12726)Aag>Cag		dynein, axonemal, heavy chain 2							125	106	112					17																	7735091		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.chr17:7735091A>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.12724A>C	17.37:g.7735091A>C	ENSP00000458355:p.Lys4242Gln		Somatic				DNAH2_ENST00000389173.2_Missense_Mutation_p.K4242Q	p.K4242Q			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			82	14184	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4242					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.12724A>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.385729	0.61956	.	.	ENSG00000183914	ENST00000389173	T	0.09445	2.98	5.37	5.37	0.77165	Dynein heavy chain (1);	0.054688	0.64402	D	0.000001	T	0.17746	0.0426	M	0.72118	2.19	0.80722	D	1	P	0.35307	0.494	B	0.39152	0.292	T	0.01516	-1.1335	9	.	.	.	.	14.4867	0.67622	1.0:0.0:0.0:0.0	.	4242	Q9P225	DYH2_HUMAN	Q	4242	ENSP00000373825:K4242Q	.	K	+	1	0	DNAH2	7675816	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.171000	0.71926	2.254000	0.74563	0.533000	0.62120	AAG		0.488	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		13	31	0	0	0	1	0	13	31					C	7735091	A	C	7735091	3	2	48	1	0	0	0	0	1	0	0	0	4604	15	1	4	13046	4	DNAH2	17	7735091	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1338	7735091	73460119	3690	8158										
MYH10	4628	broad.mit.edu	37	chr17	8508286	8508286	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggtttataactacacagaaGagtccagaataagtctagaa	9	6	1	4	rs375038020		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:8508286G>T	ENST00000269243.4	-	3	498	c.360C>A	c.(358-360)ctC>ctA	p.L120L	MYH10_ENST00000360416.3_Silent_p.L120L|MYH10_ENST00000396239.1_Silent_p.L120L|MYH10_ENST00000379980.4_Silent_p.L120L	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	120	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						CTACACAGAAGAGTCCAGAAT	0.343																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(358-360)ctC>ctA		myosin, heavy chain 10, non-muscle		G		0,4400		0,0,2200	35	38	37		360	2.9	1	17		37	2,8584	2.2+/-6.3	0,2,4291	no	coding-synonymous	MYH10	NM_005964.1		0,2,6491	TT,TG,GG		0.0233,0.0,0.0154		120/1977	8508286	2,12984	2200	4293	6493	SO:0001819	synonymous_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.chr17:8508286G>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.360C>A	17.37:g.8508286G>T			Somatic				MYH10_ENST00000396239.1_Silent_p.L120L|MYH10_ENST00000379980.4_Silent_p.L120L|MYH10_ENST00000269243.4_Silent_p.L120L	p.L120L	NM_001256012.1	NP_001242941.1	WXS	Illumina GAIIx	Phase_I	P35580	MYH10_HUMAN			3	498	-			120			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Silent	SNP	ENST00000269243.4	37	c.360C>A	CCDS11144.1																																																																																				0.343	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			10	23	1	0	0.000442599	1	0.00046913	10	23					T	8508286	G	T	8508286	2	4	48	1	0	0	0	0	0	0	0	1	10039	929	33	2		2	MYH10	17	8508286	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	773195	8508286	72686924	3691	8159										
MYH13	8735	broad.mit.edu	37	chr17	10206514	10206514	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggggacctcctgtgcttaccGcctcctcagcctgcctcttg	10	17	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10206514G>A	ENST00000418404.3	-	38	5829	c.5666C>T	c.(5665-5667)gCg>gTg	p.A1889V	MYH13_ENST00000252172.4_Splice_Site_p.A1889V|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1889					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						TGTGCTTACCGCCTCCTCAGC	0.597																																						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.e38+1		myosin, heavy chain 13, skeletal muscle							112	118	116					17																	10206514		2130	4245	6375	SO:0001630	splice_region_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10206514G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5667+1C>T	17.37:g.10206514G>A			Somatic				MYH13_ENST00000252172.4_Splice_Site_p.A1889_splice|MYH13_ENST00000570743.1_Splice_Site_p.A1889_splice	p.A1889_splice			WXS	Illumina GAIIx	Phase_I	Q9UKX3	MYH13_HUMAN			38	5829	-			1889					O95252|Q9P0U8	Splice_Site	SNP	ENST00000418404.3	37	c.5667_splice	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911759	0.52439	.	.	ENSG00000006788	ENST00000252172	T	0.80393	-1.37	3.72	3.72	0.42706	Myosin tail (1);	.	.	.	.	T	0.81645	0.4866	M	0.83012	2.62	0.38568	D	0.949882	B	0.29571	0.249	B	0.34931	0.192	D	0.83759	0.0213	9	0.56958	D	0.05	.	9.832	0.40948	0.0962:0.0:0.9038:0.0	.	1889	Q9UKX3	MYH13_HUMAN	V	1889	ENSP00000252172:A1889V	ENSP00000252172:A1889V	A	-	2	0	MYH13	10147239	1.000000	0.71417	0.975000	0.42487	0.693000	0.40251	7.751000	0.85126	2.058000	0.61347	0.491000	0.48974	GCG		0.597	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	Missense_Mutation	62	119	0	0	0	1	0	62	119					A	10206514	G	A	10206514	5	1	48	1	0	0	0	0	0	0	1	0	10041	1101	38	1	162	1	MYH13	17	10206514	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1698228	10206514	70988696	3692	8160										
MYH1	4619	broad.mit.edu	37	chr17	10402095	10402095	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttcccgcagcaggtcacaGtcatggcgggaggactgcag	15	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10402095G>T	ENST00000226207.5	-	30	4123	c.4029C>A	c.(4027-4029)gaC>gaA	p.D1343E	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1343					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						GCAGGTCACAGTCATGGCGGG	0.507																																						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.(4027-4029)gaC>gaA		myosin, heavy chain 1, skeletal muscle, adult							112	103	106					17																	10402095		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10402095G>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.4029C>A	17.37:g.10402095G>T	ENSP00000226207:p.Asp1343Glu		Somatic				CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.D1343E	NM_005963.3	NP_005954.3	WXS	Illumina GAIIx	Phase_I	P12882	MYH1_HUMAN			30	4123	-			1343					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4029C>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667278	0.88348	.	.	ENSG00000109061	ENST00000226207	T	0.78924	-1.22	5.41	4.44	0.53790	Myosin tail (1);	0.000000	0.45606	U	0.000356	D	0.84946	0.5585	M	0.67625	2.065	0.46849	D	0.999221	D	0.71674	0.998	D	0.68765	0.96	D	0.85943	0.1459	10	0.66056	D	0.02	.	11.5691	0.50824	0.1441:0.0:0.8559:0.0	.	1343	P12882	MYH1_HUMAN	E	1343	ENSP00000226207:D1343E	ENSP00000226207:D1343E	D	-	3	2	MYH1	10342820	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.103000	0.57783	1.427000	0.47276	0.655000	0.94253	GAC		0.507	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		31	54	1	0	1.68508e-10	1	2.06928e-10	31	54					T	10402095	G	T	10402095	3	4	48	1	0	0	0	0	1	0	0	0	10038	1020	36	5	1834	5	MYH1	17	10402095	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	195581	10402095	70793115	3693	8161										
MYH2	4620	broad.mit.edu	37	chr17	10427885	10427885	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagtggcccgcagctcctcGatctcagcctgcagcaggtt	12	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10427885G>A	ENST00000245503.5	-	35	5457	c.5073C>T	c.(5071-5073)atC>atT	p.I1691I	MYH2_ENST00000397183.2_Silent_p.I1691I|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1691					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						GCAGCTCCTCGATCTCAGCCT	0.592																																						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.(5071-5073)atC>atT		myosin, heavy chain 2, skeletal muscle, adult							90	84	86					17																	10427885		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.chr17:10427885G>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.5073C>T	17.37:g.10427885G>A			Somatic				MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.I1691I|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.I1691I	NM_017534.5	NP_060004.3	WXS	Illumina GAIIx	Phase_I	Q9UKX2	MYH2_HUMAN			35	5457	-			1691					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.5073C>T	CCDS11156.1																																																																																				0.592	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		26	58	0	0	0	1	0	26	58					A	10427885	G	A	10427885	2	1	48	1	0	0	0	0	0	0	0	1	10044	1048	37	1		1	MYH2	17	10427885	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	25790	10427885	70767325	3694	8162										
MYH2	4620	broad.mit.edu	37	chr17	10441078	10441078	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tactcctcctgctccagcacGaacatgtggtggttgaaaaa	9	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10441078G>A	ENST00000245503.5	-	15	1875	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	MYH2_ENST00000397183.2_Silent_p.F497F|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Silent_p.F497F|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	497	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						GCTCCAGCACGAACATGTGGT	0.478																																						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.(1489-1491)ttC>ttT		myosin, heavy chain 2, skeletal muscle, adult							152	132	139					17																	10441078		2203	4297	6500	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.chr17:10441078G>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.1491C>T	17.37:g.10441078G>A			Somatic				MYH2_ENST00000532183.1_Silent_p.F497F|MYH2_ENST00000397183.2_Silent_p.F497F|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.F497F	NM_017534.5	NP_060004.3	WXS	Illumina GAIIx	Phase_I	Q9UKX2	MYH2_HUMAN			15	1875	-			497			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.1491C>T	CCDS11156.1																																																																																				0.478	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		52	106	0	0	0	1	0	52	106					A	10441078	G	A	10441078	2	1	48	1	0	0	0	0	0	0	0	1	10044	1049	37	1		1	MYH2	17	10441078	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	13193	10441078	70754132	3695	8163										
MYH2	4620	broad.mit.edu	37	chr17	10447242	10447242	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattttgccagaagtaatttCttccttcttcttctcaccag	4	11	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10447242C>A	ENST00000245503.5	-	7	1009	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	MYH2_ENST00000397183.2_Nonsense_Mutation_p.E209*|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Nonsense_Mutation_p.E209*	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	209	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						GAAGTAATTTCTTCCTTCTTC	0.458																																						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.(625-627)Gaa>Taa		myosin, heavy chain 2, skeletal muscle, adult							102	94	96					17																	10447242		2203	4300	6503	SO:0001587	stop_gained	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10447242C>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.625G>T	17.37:g.10447242C>A	ENSP00000245503:p.Glu209*		Somatic				MYH2_ENST00000532183.1_Nonsense_Mutation_p.E209*|MYH2_ENST00000397183.2_Nonsense_Mutation_p.E209*|CTC-297N7.7_ENST00000587182.1_RNA	p.E209*	NM_017534.5	NP_060004.3	WXS	Illumina GAIIx	Phase_I	Q9UKX2	MYH2_HUMAN			7	1009	-			209			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Nonsense_Mutation	SNP	ENST00000245503.5	37	c.625G>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836770	0.32421	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	.	.	.	4.74	4.74	0.60224	.	0.000000	0.39759	U	0.001279	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	17.2627	0.87075	0.0:1.0:0.0:0.0	.	.	.	.	X	209	.	ENSP00000245503:E209X	E	-	1	0	MYH2	10387967	0.928000	0.31464	0.977000	0.42913	0.408000	0.30992	3.944000	0.56629	2.621000	0.88768	0.655000	0.94253	GAA		0.458	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		22	38	1	0	8.10497e-08	1	9.43176e-08	22	38					A	10447242	C	A	10447242	4	1	48	1	0	0	0	0	0	1	0	0	10044	922	32	2	5336	2	MYH2	17	10447242	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	6164	10447242	70747968	3696	8164										
DNAH9	1770	broad.mit.edu	37	chr17	11573031	11573031	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgaaaattgatattcgaccCtttaaggcatctctgctgaa	7	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:11573031C>A	ENST00000262442.4	+	17	3341	c.3273C>A	c.(3271-3273)ccC>ccA	p.P1091P	DNAH9_ENST00000454412.2_Silent_p.P1091P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1091	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)		ATATTCGACCCTTTAAGGCAT	0.443																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(3271-3273)ccC>ccA		dynein, axonemal, heavy chain 9							132	136	135					17																	11573031		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.chr17:11573031C>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.3273C>A	17.37:g.11573031C>A			Somatic				DNAH9_ENST00000454412.2_Silent_p.P1091P	p.P1091P	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)	17	3341	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1091			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.3273C>A	CCDS11160.1																																																																																				0.443	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		18	119	1	0	1.45105e-14	1	1.8931e-14	18	119					A	11573031	C	A	11573031	2	1	48	1	0	0	0	0	0	0	0	1	4610	668	24	5		5	DNAH9	17	11573031	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1125789	11573031	69622179	3697	8165										
DNAH9	1770	broad.mit.edu	37	chr17	11593429	11593429	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtggacaaagctgcaaaagaGatgggtatggagaaaacctt	13	5	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:11593429G>T	ENST00000262442.4	+	20	4358	c.4290G>T	c.(4288-4290)gaG>gaT	p.E1430D	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1430D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1430	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)		CTGCAAAAGAGATGGGTATGG	0.562																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(4288-4290)gaG>gaT		dynein, axonemal, heavy chain 9							58	53	55					17																	11593429		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.chr17:11593429G>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.4290G>T	17.37:g.11593429G>T	ENSP00000262442:p.Glu1430Asp		Somatic				DNAH9_ENST00000454412.2_Missense_Mutation_p.E1430D	p.E1430D	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)	20	4358	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1430			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.4290G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134249	0.77662	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.75589	-0.95;-0.95	5.84	5.84	0.93424	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.92008	0.7468	H	0.99642	4.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93886	0.7175	10	0.72032	D	0.01	.	11.1023	0.48182	0.1106:0.0:0.8894:0.0	.	1430	Q9NYC9	DYH9_HUMAN	D	1430;1430;12	ENSP00000262442:E1430D;ENSP00000414874:E1430D	ENSP00000262442:E1430D	E	+	3	2	DNAH9	11534154	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.436000	0.34980	2.779000	0.95612	0.655000	0.94253	GAG		0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		19	38	1	0	7.07596e-05	1	7.68259e-05	19	38					T	11593429	G	T	11593429	3	4	48	1	0	0	0	0	1	0	0	0	4610	933	33	2	4368	2	DNAH9	17	11593429	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	20398	11593429	69601781	3698	8166										
MAP2K4	6416	broad.mit.edu	37	chr17	11984700	11984700	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgagaacacacagcattgaGtcatcaggaaaactgaagat	9	8	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:11984700G>A	ENST00000353533.5	+	3	309	c.246G>A	c.(244-246)gaG>gaA	p.E82E	MAP2K4_ENST00000415385.3_Silent_p.E93E|MIR744_ENST00000578242.1_RNA|MAP2K4_ENST00000581941.1_3'UTR	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	82					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)		ACAGCATTGAGTCATCAGGAA	0.378			"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)|large_intestine(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.(277-279)gaG>gaA		mitogen-activated protein kinase kinase 4							82	77	79					17																	11984700		2203	4300	6503	SO:0001819	synonymous_variant	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:11984700G>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.246G>A	17.37:g.11984700G>A			Somatic				MAP2K4_ENST00000353533.5_Silent_p.E82E	p.E93E			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)	4	332	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	82					B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Silent	SNP	ENST00000353533.5	37	c.279G>A	CCDS11162.1																																																																																				0.378	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			21	30	0	0	0	1	0	21	30					A	11984700	G	A	11984700	2	1	48	1	0	0	0	0	0	0	0	1	9248	1020	36	3		3	MAP2K4	17	11984700	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	391271	11984700	69210510	3699	8167										
MAP2K4	6416	broad.mit.edu	37	chr17	11998922	11998923	+	Frame_Shift_Ins	INS	-	-	A													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacagtggatgaaaaagaacINSaaaaacaacttcttatggat							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:11998922_11998923insA	ENST00000353533.5	+	4	487_488	c.424_425insA	c.(424-426)caafs	p.Q142fs	MAP2K4_ENST00000415385.3_Frame_Shift_Ins_p.Q153fs|MAP2K4_ENST00000581941.1_3'UTR	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	142	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Q -> L (in a lung squamous cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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.Q142L(1)|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)		TGAAAAAGAACAAAAACAACTT	0.337			"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"		12	Whole gene deletion(10)|Substitution - Missense(1)|Unknown(1)	p.0?(10)|p.Q142L(1)|p.?(1)	breast(4)|ovary(4)|biliary_tract(1)|large_intestine(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.(457-459)aaafs		mitogen-activated protein kinase kinase 4																																				SO:0001589	frameshift_variant	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:11998922_11998923insA	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.429dupA	17.37:g.11998927_11998927dupA	ENSP00000262445:p.Gln142fs		Somatic				MAP2K4_ENST00000353533.5_Frame_Shift_Ins_p.K142fs	p.K153fs			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)	5	510_511	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	142			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Frame_Shift_Ins	INS	ENST00000353533.5	37	c.457_458insA	CCDS11162.1																																																																																				0.337	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			19	52						19	52	---	---	---	---	A	11998923	-	A	11998922	7	5	48	1	0	1	1	0	0	0	0	0	9248	479	17	0	438	0	MAP2K4	17	11998922	Frame_Shift_Ins	INS	-	TCGA-ND-A4WC-01A-21D-A28R-08	14222	11998922	69196288	3700	8168										
HS3ST3A1	9955	broad.mit.edu	37	chr17	13504372	13504372	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agggagcagagcatcagcaaGaacttccggaagatgctgcg	14	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:13504372G>T	ENST00000284110.1	-	1	872	c.75C>A	c.(73-75)ttC>ttA	p.F25L		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	25					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCATCAGCAAGAACTTCCGGA	0.697																																						ENST00000284110.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(73-75)ttC>ttA		heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1							43	39	40					17																	13504372		2197	4299	6496	SO:0001583	missense	9955					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:13504372G>T	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"Sulfotransferases, membrane-bound"	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.75C>A	17.37:g.13504372G>T	ENSP00000284110:p.Phe25Leu		Somatic					p.F25L	NM_006042.1	NP_006033.1	WXS	Illumina GAIIx	Phase_I	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	1	872	-		all_lung(20;0.114)	25					A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	c.75C>A	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579475	0.28180	.	.	ENSG00000153976	ENST00000284110	T	0.42900	0.96	2.79	1.78	0.24846	.	12.437600	0.01362	N	0.012282	T	0.26593	0.0650	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50808	-0.8784	10	0.02654	T	1	.	2.7165	0.05189	0.3296:0.2541:0.4162:0.0	.	25	Q9Y663	HS3SA_HUMAN	L	25	ENSP00000284110:F25L	ENSP00000284110:F25L	F	-	3	2	HS3ST3A1	13445097	0.008000	0.16893	0.985000	0.45067	0.981000	0.71138	0.631000	0.24568	0.656000	0.30886	0.563000	0.77884	TTC		0.697	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		4	12	1	0	0.150653	1	0.151842	4	12					T	13504372	G	T	13504372	3	4	48	1	0	0	0	0	1	0	0	0	7374	933	33	2	1153	2	HS3ST3A1	17	13504372	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1505450	13504372	67690838	3701	8169										
CDRT1	374286	broad.mit.edu	37	chr17	15519060	15519060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccaatagacttgtgaggtcGcagacttggagctgtggtct	13	8	1	3	rs372782740		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:15519060G>A	ENST00000395906.3	-	2	568	c.569C>T	c.(568-570)gCg>gTg	p.A190V	RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.A500V	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	190										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TTGTGAGGTCGCAGACTTGGA	0.478																																						ENST00000455584.2																			0											c.(1498-1500)gCg>gTg				G	VAL/ALA	0,4402		0,0,2201	53	54	54		569	-1.7	0	17		54	2,8554	1.2+/-3.3	0,2,4276	no	missense	CDRT1	NM_006382.3	64	0,2,6477	AA,AG,GG		0.0234,0.0,0.0154	benign	190/753	15519060	2,12956	2201	4278	6479	SO:0001583	missense	0							g.chr17:15519060G>A	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"F-boxes / WD-40 domains", "WD repeat domain containing"	14379	protein-coding gene	gene with protein product		604596	"F-box and WD repeat domain containing 10 pseudogene 1", "F-box and WD-40 domain protein 10 pseudogene 1"	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.569C>T	17.37:g.15519060G>A	ENSP00000379242:p.Ala190Val		Somatic				CDRT1_ENST00000395906.3_Missense_Mutation_p.A190V	p.A500V			WXS	Illumina GAIIx	Phase_I					8	1542	-								O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	c.1499C>T	CCDS45619.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.970|3.970	-0.008637|-0.008637	0.07727|0.07727	0.0|0.0	2.34E-4|2.34E-4	ENSG00000251537|ENSG00000251537	ENST00000261644;ENST00000395906|ENST00000455584	T|.	0.22743|.	1.94|.	3.68|3.68	-1.66|-1.66	0.08265|0.08265	.|.	0.785067|.	0.11328|.	U|.	0.575340|.	T|.	0.27278|.	0.0669|.	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B|.	0.12630|.	0.006;0.001|.	B;B|.	0.06405|.	0.002;0.0|.	T|.	0.29518|.	-1.0009|.	10|.	0.30078|.	T|.	0.28|.	.|.	8.2511|8.2511	0.31717|0.31717	0.1442:0.0:0.594:0.2618|0.1442:0.0:0.594:0.2618	.|.	190;514|.	O95170;Q59EB2|.	CDRT1_HUMAN;.|.	V|X	190|515	ENSP00000379242:A190V|.	ENSP00000261644:A190V|.	A|R	-|-	2|1	0|2	RP11-385D13.1|RP11-385D13.1	15459785|15459785	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	0.167000|0.167000	0.16602|0.16602	-0.685000|-0.685000	0.05177|0.05177	-2.628000|-2.628000	0.00155|0.00155	GCG|CGA		0.478	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		5	33	0	0	0	1	0	5	33					A	15519060	G	A	15519060	3	1	48	1	0	0	0	0	1	0	0	0	3176	1087	38	1	1733	1	CDRT1	17	15519060	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2014688	15519060	65676150	3702	8170										
ZNF286A	57335	broad.mit.edu	37	chr17	15620126	15620126	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taatgaatgtgataaagcttTtattcattcatcagcactca	5	7	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:15620126T>G	ENST00000464847.2	+	5	1641	c.1088T>G	c.(1087-1089)tTt>tGt	p.F363C	ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.F363C|ZNF286A_ENST00000593105.1_Missense_Mutation_p.F353C|ZNF286A_ENST00000413242.2_Missense_Mutation_p.F363C|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000583566.1_Missense_Mutation_p.F363C			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	363					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)		GATAAAGCTTTTATTCATTCA	0.368																																						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.(1087-1089)tTt>tGt		zinc finger protein 286A							59	49	52					17																	15620126		2202	4297	6499	SO:0001583	missense	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15620126T>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.1088T>G	17.37:g.15620126T>G	ENSP00000464218:p.Phe363Cys		Somatic				ZNF286A_ENST00000583566.1_Missense_Mutation_p.F363C|ZNF286A_ENST00000593105.1_Missense_Mutation_p.F353C|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.F363C|ZNF286A_ENST00000413242.2_Missense_Mutation_p.F363C|ZNF286A_ENST00000395894.2_3'UTR	p.F363C			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	1641	+			363					B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	c.1088T>G	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	t	15.41	2.824211	0.50739	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.48201	0.82;0.82	4.3	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43416	D	0.000561	T	0.66829	0.2829	M	0.85777	2.775	0.48341	D	0.99963	D	0.89917	1.0	D	0.80764	0.994	T	0.70517	-0.4850	10	0.87932	D	0	-12.4116	6.5664	0.22515	0.0:0.1074:0.0:0.8926	.	363	Q9HBT8	Z286A_HUMAN	C	363;353;363	ENSP00000397163:F363C;ENSP00000408168:F353C	ENSP00000435872:F363C	F	+	2	0	ZNF286A	15560851	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.669000	0.83911	1.935000	0.56089	0.477000	0.44152	TTT		0.368	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		9	30	0	0	0	1	0	9	30					G	15620126	T	G	15620126	3	3	48	1	0	0	0	0	1	0	0	0	17838	1841	64	4	1106	4	ZNF286A	17	15620126	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	101066	15620126	65575084	3703	8171										
ZNF286A	57335	broad.mit.edu	37	chr17	15620411	15620411	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caattttgctaaacatcaaaGaattcatattggaaagaaac	5	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:15620411G>T	ENST00000464847.2	+	5	1926	c.1373G>T	c.(1372-1374)aGa>aTa	p.R458I	ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R458I|ZNF286A_ENST00000593105.1_Missense_Mutation_p.R448I|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R458I|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000583566.1_Missense_Mutation_p.R458I			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	458					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.R458I(1)		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)		AAACATCAAAGAATTCATATT	0.408																																						ENST00000464847.2																			1	Substitution - Missense(1)	p.R458I(1)	large_intestine(1)	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.(1372-1374)aGa>aTa		zinc finger protein 286A							58	64	62					17																	15620411		2203	4300	6503	SO:0001583	missense	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15620411G>T	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.1373G>T	17.37:g.15620411G>T	ENSP00000464218:p.Arg458Ile		Somatic				ZNF286A_ENST00000583566.1_Missense_Mutation_p.R458I|ZNF286A_ENST00000593105.1_Missense_Mutation_p.R448I|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R458I|ZNF286A_ENST00000413242.2_Missense_Mutation_p.R458I|ZNF286A_ENST00000395894.2_3'UTR	p.R458I			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	1926	+			458					B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	c.1373G>T	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	g	16.90	3.250480	0.59212	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.02446	4.29;4.29	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000354	T	0.11452	0.0279	M	0.79475	2.455	0.58432	D	0.999991	D	0.67145	0.996	D	0.66196	0.942	T	0.00102	-1.2062	10	0.62326	D	0.03	-24.723	7.9552	0.30038	0.1106:0.0:0.8894:0.0	.	458	Q9HBT8	Z286A_HUMAN	I	458;448;458	ENSP00000397163:R458I;ENSP00000408168:R448I	ENSP00000435872:R458I	R	+	2	0	ZNF286A	15561136	0.914000	0.31030	1.000000	0.80357	0.998000	0.95712	1.855000	0.39378	2.296000	0.77279	0.650000	0.86243	AGA		0.408	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		19	26	1	0	2.4624e-09	1	2.95225e-09	19	26					T	15620411	G	T	15620411	3	4	48	1	0	0	0	0	1	0	0	0	17838	942	33	2	1391	2	ZNF286A	17	15620411	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	285	15620411	65574799	3704	8172										
ZNF624	57547	broad.mit.edu	37	chr17	16527311	16527311	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggtttttctttagtatgagTtctttgatgttgaatgagca	10	3	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:16527311T>C	ENST00000311331.7	-	6	980	c.889A>G	c.(889-891)Act>Gct	p.T297A		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	297					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(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTAGTATGAGTTCTTTGATGT	0.343																																					NSCLC(186;1023 2134 13330 38202 39800)	ENST00000311331.7																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.(889-891)Act>Gct		zinc finger protein 624							110	115	113					17																	16527311		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16527311T>C	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"Zinc fingers, C2H2-type", "-"	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.889A>G	17.37:g.16527311T>C	ENSP00000310472:p.Thr297Ala		Somatic					p.T297A	NM_020787.3	NP_065838.2	WXS	Illumina GAIIx	Phase_I	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	980	-			297					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.889A>G	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.249929	0.22880	.	.	ENSG00000197566	ENST00000311331	T	0.11930	2.73	3.32	3.32	0.38043	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13970	0.0338	L	0.46947	1.48	0.23478	N	0.997599	B	0.19445	0.036	B	0.22601	0.04	T	0.13308	-1.0514	9	0.48119	T	0.1	.	10.0065	0.41959	0.0:0.0:0.0:1.0	.	297	Q9P2J8	ZN624_HUMAN	A	297	ENSP00000310472:T297A	ENSP00000310472:T297A	T	-	1	0	ZNF624	16468036	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	0.753000	0.26376	1.532000	0.49169	0.460000	0.39030	ACT		0.343	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		21	51	0	0	0	1	0	21	51					C	16527311	T	C	16527311	3	2	48	1	0	0	0	0	1	0	0	0	18063	1725	60	4	1712	4	ZNF624	17	16527311	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	906900	16527311	64667899	3705	8173										
CCDC144A	9720	broad.mit.edu	37	chr17	16612833	16612833	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagattctgacagaacatcaGaagtatatctacatgaagaa	7	7	3	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:16612833G>T	ENST00000360524.8	+	5	1538	c.1462G>T	c.(1462-1464)Gaa>Taa	p.E488*	CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E488*|CCDC144A_ENST00000456009.1_Intron|RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.E488*|RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000340621.5_Nonsense_Mutation_p.E487*|CCDC144A_ENST00000443444.2_Nonsense_Mutation_p.E488*	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	488																	CAGAACATCAGAAGTATATCT	0.353																																						ENST00000443444.2																			0											c.(1462-1464)Gaa>Taa		coiled-coil domain containing 144A							29	29	29					17																	16612833		1775	4021	5796	SO:0001587	stop_gained	9720							g.chr17:16612833G>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.1462G>T	17.37:g.16612833G>T	ENSP00000353717:p.Glu488*		Somatic				CCDC144A_ENST00000360524.8_Nonsense_Mutation_p.E488*|CCDC144A_ENST00000340621.5_Nonsense_Mutation_p.E487*|CCDC144A_ENST00000456009.1_Intron|RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.E488*|CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E488*	p.E488*			WXS	Illumina GAIIx	Phase_I	A2RUR9	C144A_HUMAN			5	1602	+			488					O60311|Q6ZU57	Nonsense_Mutation	SNP	ENST00000360524.8	37	c.1462G>T	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.247478	0.80024	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	.	.	.	1.26	-2.52	0.06346	.	.	.	.	.	.	.	.	.	.	.	0.22903	N	0.998585	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	5.3548	0.16055	0.6646:0.0:0.3354:0.0	.	.	.	.	X	289;487;488;488;488;488;488	.	ENSP00000344740:E487X	E	+	1	0	CCDC144A	16553558	0.196000	0.23350	0.383000	0.26132	0.315000	0.28087	0.441000	0.21611	-0.797000	0.04450	0.175000	0.17021	GAA		0.353	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			20	47	1	0	1.00905e-13	1	1.29777e-13	20	47					T	16612833	G	T	16612833	4	4	48	1	0	0	0	0	0	1	0	0	2779	943	33	2	1480	2	CCDC144A	17	16612833	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	85522	16612833	64582377	3706	8174										
COPS3	8533	broad.mit.edu	37	chr17	17179423	17179423	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgtccagatgggataagttCttcgcaaggagttccccact	11	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:17179423C>A	ENST00000268717.5	-	2	217	c.111G>T	c.(109-111)aaG>aaT	p.K37N	COPS3_ENST00000539941.2_Missense_Mutation_p.K17N|COPS3_ENST00000439936.2_Missense_Mutation_p.K17N	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	37					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GGGATAAGTTCTTCGCAAGGA	0.458																																						ENST00000539941.2																			0				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(49-51)aaG>aaT		COP9 signalosome subunit 3							152	121	132					17																	17179423		2203	4300	6503	SO:0001583	missense	8533				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding	g.chr17:17179423C>A	AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3", "COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.111G>T	17.37:g.17179423C>A	ENSP00000268717:p.Lys37Asn		Somatic				COPS3_ENST00000439936.2_Missense_Mutation_p.K17N|COPS3_ENST00000268717.5_Missense_Mutation_p.K37N	p.K17N	NM_001199125.1	NP_001186054.1	WXS	Illumina GAIIx	Phase_I	Q9UNS2	CSN3_HUMAN			2	259	-			37					B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000268717.5	37	c.51G>T	CCDS11183.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668470	0.67814	.	.	ENSG00000141030	ENST00000268717;ENST00000539941;ENST00000417352;ENST00000439936	T;T;T	0.46063	0.88;0.88;0.88	5.08	2.68	0.31781	.	0.000000	0.85682	D	0.000000	T	0.27278	0.0669	L	0.38175	1.15	0.58432	D	0.999995	B	0.22683	0.073	B	0.18263	0.021	T	0.05801	-1.0863	10	0.21540	T	0.41	-25.0054	6.857	0.24046	0.0:0.6992:0.0:0.3007	.	37	Q9UNS2	CSN3_HUMAN	N	37;17;37;61	ENSP00000268717:K37N;ENSP00000437606:K17N;ENSP00000409028:K37N	ENSP00000268717:K37N	K	-	3	2	COPS3	17120148	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.226000	0.32563	1.260000	0.44134	0.555000	0.69702	AAG		0.458	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131603.2			20	45	1	0	5.35267e-07	1	6.09026e-07	20	45					A	17179423	C	A	17179423	3	1	48	1	0	0	0	0	1	0	0	0	3736	912	32	2	1204	2	COPS3	17	17179423	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	566590	17179423	64015787	3707	8175										
LRRC48	83450	broad.mit.edu	37	chr17	17909551	17909551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acatggtaggactgtttatcGaaaatgtccaaagcctatat	8	7	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:17909551G>A	ENST00000399187.1	+	11	1404	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	LRRC48_ENST00000411504.2_Missense_Mutation_p.E396K|LRRC48_ENST00000399182.1_Missense_Mutation_p.E396K|LRRC48_ENST00000584166.1_Missense_Mutation_p.E396K|LRRC48_ENST00000313838.8_Missense_Mutation_p.E396K	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	396						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					ACTGTTTATCGAAAATGTCCA	0.433																																						ENST00000313838.8																			0				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7						c.(1186-1188)Gaa>Aaa		leucine rich repeat containing 48							108	100	102					17																	17909551		1907	4112	6019	SO:0001583	missense	83450					cytoplasm		g.chr17:17909551G>A	AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.1186G>A	17.37:g.17909551G>A	ENSP00000382140:p.Glu396Lys		Somatic				LRRC48_ENST00000584166.1_Missense_Mutation_p.E396K|LRRC48_ENST00000411504.2_Missense_Mutation_p.E396K|LRRC48_ENST00000399182.1_Missense_Mutation_p.E396K|LRRC48_ENST00000399187.1_Missense_Mutation_p.E396K	p.E396K	NM_001130090.1	NP_001123562.1	WXS	Illumina GAIIx	Phase_I	Q9H069	LRC48_HUMAN			12	1565	+	all_neural(463;0.228)		396					A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	ENST00000399187.1	37	c.1186G>A	CCDS45622.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858357	0.51376	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.59	5.59	0.84812	.	0.146322	0.64402	D	0.000011	T	0.54415	0.1857	M	0.87758	2.905	0.80722	D	1	B;P	0.39737	0.203;0.685	B;B	0.32724	0.026;0.151	T	0.65639	-0.6119	10	0.62326	D	0.03	-12.6232	18.3572	0.90361	0.0:0.0:1.0:0.0	.	396;396	Q9H069;Q9H069-2	LRC48_HUMAN;.	K	396	ENSP00000326870:E396K;ENSP00000394020:E396K;ENSP00000382140:E396K;ENSP00000382136:E396K	ENSP00000326870:E396K	E	+	1	0	LRRC48	17850276	1.000000	0.71417	0.859000	0.33776	0.328000	0.28507	5.322000	0.65852	2.613000	0.88420	0.655000	0.94253	GAA		0.433	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294		4	12	0	0	0	1	0	4	12					A	17909551	G	A	17909551	3	1	48	1	0	0	0	0	1	0	0	0	9014	1059	37	1	1220	1	LRRC48	17	17909551	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	730128	17909551	63285659	3708	8176										
C17orf39	79018	broad.mit.edu	37	chr17	17957474	17957474	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttacaaccttcttcgaaggaGaaataatcagcaaaaaacac	5	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:17957474G>A	ENST00000268719.4	+	3	705	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	GID4_ENST00000376345.3_Missense_Mutation_p.E178K	NM_024052.4	NP_076957.3	Q8IVV7	GID4_HUMAN	GID complex subunit 4	178																	CTTCGAAGGAGAAATAATCAG	0.388																																						ENST00000268719.4																			0											c.(532-534)Gaa>Aaa		GID complex subunit 4							117	111	113					17																	17957474		2203	4300	6503	SO:0001583	missense	79018							g.chr17:17957474G>A	AK127580	CCDS11190.1	17p11.2	2013-07-31	2013-07-31	2012-07-20	ENSG00000141034	ENSG00000141034			28453	protein-coding gene	gene with protein product	"vacuolar import and degradation 24"		"chromosome 17 open reading frame 39", "GID complex subunit 4, VID24 homolog (S. cerevisiae)"	C17orf39		11997338	Standard	NM_024052		Approved	VID24	uc002gsg.1	Q8IVV7	OTTHUMG00000059398	ENST00000268719.4:c.532G>A	17.37:g.17957474G>A	ENSP00000268719:p.Glu178Lys		Somatic				GID4_ENST00000376345.3_Missense_Mutation_p.E178K	p.E178K	NM_024052.4	NP_076957.3	WXS	Illumina GAIIx	Phase_I					3	705	+								Q8TEB5|Q9BW50	Missense_Mutation	SNP	ENST00000268719.4	37	c.532G>A	CCDS11190.1	.	.	.	.	.	.	.	.	.	.	G	37	5.978571	0.97168	.	.	ENSG00000141034	ENST00000268719;ENST00000376345	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.89550	0.6747	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91176	0.4972	9	0.87932	D	0	-0.6678	20.6243	0.99512	0.0:0.0:1.0:0.0	.	178	Q8IVV7	CQ039_HUMAN	K	178;95	.	ENSP00000268719:E178K	E	+	1	0	C17orf39	17898199	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.709000	0.84645	2.879000	0.98667	0.650000	0.86243	GAA		0.388	GID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132071.2	NM_024052		28	34	0	0	0	1	0	28	34					A	17957474	G	A	17957474	3	1	48	1	0	0	0	0	1	0	0	0	1857	943	33	3	542	3	C17orf39	17	17957474	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	47923	17957474	63237736	3709	8177										
EVPLL	645027	broad.mit.edu	37	chr17	18284997	18284997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagatggtgctgccgccccGacgtgggatccaaggtcgac	15	12	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:18284997G>A	ENST00000399134.4	+	4	657	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	100										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CTGCCGCCCCGACGTGGGATC	0.607																																						ENST00000399134.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(298-300)cGa>cAa		envoplakin-like							110	101	104					17																	18284997		692	1591	2283	SO:0001583	missense	645027							g.chr17:18284997G>A		CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.299G>A	17.37:g.18284997G>A	ENSP00000382086:p.Arg100Gln		Somatic				RP1-37N7.1_ENST00000579352.1_RNA	p.R100Q	NM_001145127.1	NP_001138599.1	WXS	Illumina GAIIx	Phase_I	A8MZ36	EVPLL_HUMAN			4	657	+			100					B4DPD4	Missense_Mutation	SNP	ENST00000399134.4	37	c.299G>A	CCDS45626.1	.	.	.	.	.	.	.	.	.	.	.	3.420	-0.118350	0.06838	.	.	ENSG00000214860	ENST00000399134	T	0.16457	2.34	.	.	.	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	D	0.52996	0.957	B	0.25884	0.064	T	0.25012	-1.0144	8	0.12430	T	0.62	.	4.0754	0.09901	1.0E-4:0.4558:0.5441:1.0E-4	.	100	A8MZ36	EVPLL_HUMAN	Q	100	ENSP00000382086:R100Q	ENSP00000382086:R100Q	R	+	2	0	EVPLL	18225722	0.012000	0.17670	0.958000	0.39756	0.212000	0.24457	0.764000	0.26532	0.432000	0.26286	0.074000	0.15403	CGA		0.607	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130836.2	NM_001145127		16	41	0	0	0	1	0	16	41					A	18284997	G	A	18284997	3	1	48	1	0	0	0	0	1	0	0	0	5295	1058	37	1	309	1	EVPLL	17	18284997	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	327523	18284997	62910213	3710	8178										
TBC1D28	254272	broad.mit.edu	37	chr17	18539887	18539887	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatatgcagaataggccacgAggatgtcacataattcctgc	9	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:18539887A>C	ENST00000345096.4	-	9	1220	c.521T>G	c.(520-522)cTc>cGc	p.L174R	TBC1D28_ENST00000405044.1_Missense_Mutation_p.L174R			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	174	Rab-GAP TBC.						Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						ATAGGCCACGAGGATGTCACA	0.463																																						ENST00000345096.4																			0				breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						c.(520-522)cTc>cGc		TBC1 domain family, member 28							141	136	137					17																	18539887		1865	4114	5979	SO:0001583	missense	254272					intracellular	Rab GTPase activator activity	g.chr17:18539887A>C		CCDS42273.1	17p11.2	2008-10-27			ENSG00000189375	ENSG00000189375			26858	protein-coding gene	gene with protein product							Standard	NM_001039397		Approved	FLJ40244	uc002gud.2	Q2M2D7	OTTHUMG00000059054	ENST00000345096.4:c.521T>G	17.37:g.18539887A>C	ENSP00000339973:p.Leu174Arg		Somatic				TBC1D28_ENST00000405044.1_Missense_Mutation_p.L174R	p.L174R			WXS	Illumina GAIIx	Phase_I	Q2M2D7	TBC28_HUMAN			9	1220	-			174			Rab-GAP TBC.		Q2M2E1	Missense_Mutation	SNP	ENST00000345096.4	37	c.521T>G	CCDS42273.1	.	.	.	.	.	.	.	.	.	.	N	10.28	1.305936	0.23736	.	.	ENSG00000189375	ENST00000345096;ENST00000405044	T;T	0.53423	0.62;0.62	0.456	0.456	0.16655	Rab-GAP/TBC domain (2);	0.000000	0.64402	U	0.000011	T	0.65893	0.2735	M	0.90252	3.1	0.09310	N	1	D	0.63046	0.992	P	0.62089	0.898	T	0.57493	-0.7802	9	0.87932	D	0	.	.	.	.	.	174	Q2M2D7	TBC28_HUMAN	R	174	ENSP00000339973:L174R;ENSP00000385821:L174R	ENSP00000339973:L174R	L	-	2	0	TBC1D28	18480612	0.005000	0.15991	0.001000	0.08648	0.023000	0.10783	1.241000	0.32743	0.418000	0.25898	0.248000	0.18094	CTC		0.463	TBC1D28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130672.2	NM_001039397		16	138	0	0	0	1	0	16	138					C	18539887	A	C	18539887	3	2	48	1	0	0	0	0	1	0	0	0	15632	304	11	4	115	4	TBC1D28	17	18539887	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	254890	18539887	62655323	3711	8179										
FAM18B	51030	broad.mit.edu	37	chr17	18694243	18694243	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtttttccacttattctttCgagtcagtgcaatcatcgtc	6	11	3	0	rs372868254		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:18694243C>T	ENST00000307767.8	+	3	429	c.130C>T	c.(130-132)Cga>Tga	p.R44*	TVP23B_ENST00000574226.1_Nonsense_Mutation_p.R44*|TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000476139.1_5'UTR	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	44						integral component of membrane (GO:0016021)											CTTATTCTTTCGAGTCAGTGC	0.383																																						ENST00000307767.8																			0											c.(130-132)Cga>Tga		trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)		C	stop/ARG	0,4406		0,0,2203	166	163	164		130	1.7	1	17		164	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	FAM18B1	NM_016078.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		44/206	18694243	1,13005	2203	4300	6503	SO:0001587	stop_gained	51030							g.chr17:18694243C>T	AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B", "family with sequence similarity 18, member B1"	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.130C>T	17.37:g.18694243C>T	ENSP00000305654:p.Arg44*		Somatic				TVP23B_ENST00000476139.1_5'UTR|TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000574226.1_Nonsense_Mutation_p.R44*	p.R44*	NM_016078.4	NP_057162.4	WXS	Illumina GAIIx	Phase_I					3	429	+								A8K448|Q96HK5|Q9Y3E6	Nonsense_Mutation	SNP	ENST00000307767.8	37	c.130C>T	CCDS42274.1	.	.	.	.	.	.	.	.	.	.	C	36	5.919636	0.97105	0.0	1.16E-4	ENSG00000171928	ENST00000307767	.	.	.	3.76	1.72	0.24424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2187	7.7473	0.28877	0.0:0.7825:0.0:0.2175	.	.	.	.	X	44	.	ENSP00000305654:R44X	R	+	1	2	FAM18B1	18634968	1.000000	0.71417	0.999000	0.59377	0.697000	0.40408	4.791000	0.62460	0.262000	0.21774	-0.556000	0.04195	CGA		0.383	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078		36	83	0	0	0	1	0	36	83					T	18694243	C	T	18694243	4	4	48	1	0	0	0	0	0	1	0	0	5524	876	31	1	140	1	FAM18B	17	18694243	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	154356	18694243	62500967	3712	8180										
MAP2K3	5606	broad.mit.edu	37	chr17	21202199	21202199	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttctccacagacccccccgGaacctggactcccggacctt	7	19	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:21202199G>A	ENST00000342679.4	+	3	375	c.126G>A	c.(124-126)cgG>cgA	p.R42R	MAP2K3_ENST00000316920.6_Silent_p.R13R|MAP2K3_ENST00000361818.5_Silent_p.R13R	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	42					activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|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)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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)|membrane (GO:0016020)|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)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GACCCCCCCGGAACCTGGACT	0.622																																						ENST00000342679.4																			0											c.(124-126)cgG>cgA		mitogen-activated protein kinase kinase 3							74	71	72					17																	21202199		2203	4300	6503	SO:0001819	synonymous_variant	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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.chr17:21202199G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.126G>A	17.37:g.21202199G>A			Somatic				MAP2K3_ENST00000316920.6_Silent_p.R13R|MAP2K3_ENST00000361818.5_Silent_p.R13R	p.R42R	NM_145109.2	NP_659731.1	WXS	Illumina GAIIx	Phase_I	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	3	375	+			42					B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	ENST00000342679.4	37	c.126G>A	CCDS11217.1																																																																																				0.622	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		6	95	0	0	0	1	0	6	95					A	21202199	G	A	21202199	2	1	48	1	0	0	0	0	0	0	0	1	9247	1161	41	3		3	MAP2K3	17	21202199	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2507956	21202199	59993011	3713	8181										
KCNJ12	3768	broad.mit.edu	37	chr17	21319491	21319491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagattgacgaggccagcccGctcttcggcatcagccggca	13	14	2	2	rs111560549	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:21319491G>A	ENST00000583088.1	+	3	1732	c.837G>A	c.(835-837)ccG>ccA	p.P279P	KCNJ12_ENST00000331718.5_Silent_p.P279P	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	279					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)	AGGCCAGCCCGCTCTTCGGCA	0.607										Prostate(3;0.18)			.|||	3	0.000599042	0.0023	0	5008	,	,		38505	0		0	False		,,,				2504	0					ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(835-837)ccG>ccA		potassium inwardly-rectifying channel, subfamily J, member 12		G		2,4404	4.2+/-10.8	0,2,2201	101	84	90		837	-4.3	0.9	17	dbSNP_132	90	0,8600		0,0,4300	no	coding-synonymous	KCNJ12	NM_021012.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		279/434	21319491	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3768							g.chr17:21319491G>A	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.837G>A	17.37:g.21319491G>A		Prostate(3;0.18)	Somatic				KCNJ12_ENST00000331718.5_Silent_p.P279P	p.P279P	NM_021012.4	NP_066292.2	WXS	Illumina GAIIx	Phase_I				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1732	+								O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.837G>A	CCDS11219.1																																																																																				0.607	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		24	91	0	0	0	1	0	24	91					A	21319491	G	A	21319491	2	1	48	1	0	0	0	0	0	0	0	1	8055	1074	38	1		1	KCNJ12	17	21319491	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	117292	21319491	59875719	3714	8182										
WSB1	26118	broad.mit.edu	37	chr17	25639387	25639387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttggagtttctctcgtatCgtatttagaagattctgcct	8	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:25639387C>T	ENST00000262394.2	+	9	1574	c.1258C>T	c.(1258-1260)Cgt>Tgt	p.R420C	WSB1_ENST00000348811.2_Missense_Mutation_p.R274C|RP11-173M1.8_ENST00000578929.1_lincRNA	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	420	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)		TCTCTCGTATCGTATTTAGAA	0.423																																						ENST00000262394.2																			0				lung(3)	3						c.(1258-1260)Cgt>Tgt		WD repeat and SOCS box containing 1							222	209	213					17																	25639387		2203	4300	6503	SO:0001583	missense	26118				intracellular signal transduction	intracellular	protein binding	g.chr17:25639387C>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.1258C>T	17.37:g.25639387C>T	ENSP00000262394:p.Arg420Cys		Somatic				WSB1_ENST00000348811.2_Missense_Mutation_p.R274C	p.R420C	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	1574	+	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		420			SOCS box.		Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	ENST00000262394.2	37	c.1258C>T	CCDS11220.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843946	0.51164	.	.	ENSG00000109046	ENST00000262394;ENST00000348811	T;T	0.48522	0.81;0.81	5.61	4.64	0.57946	SOCS protein, C-terminal (4);	0.380726	0.25467	N	0.030468	T	0.55893	0.1949	M	0.77103	2.36	0.47819	D	0.999522	D;D	0.65815	0.995;0.99	P;P	0.47075	0.528;0.536	T	0.64592	-0.6371	10	0.72032	D	0.01	-0.7374	13.6675	0.62405	0.0:0.9263:0.0:0.0737	.	274;420	Q9Y6I7-2;Q9Y6I7	.;WSB1_HUMAN	C	420;274	ENSP00000262394:R420C;ENSP00000327055:R274C	ENSP00000262394:R420C	R	+	1	0	WSB1	22663514	0.869000	0.29996	0.097000	0.21041	0.511000	0.34104	1.280000	0.33202	1.503000	0.48686	0.655000	0.94253	CGT		0.423	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255391.4	NM_015626		86	151	0	0	0	1	0	86	151					T	25639387	C	T	25639387	3	4	48	1	0	0	0	0	1	0	0	0	17419	884	31	1	1292	1	WSB1	17	25639387	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4319896	25639387	55555823	3715	8183										
NOS2	4843	broad.mit.edu	37	chr17	26109077	26109077	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggtggagtaacgcacgtgtCtgcagatgtgttcaaacatt	12	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:26109077C>A	ENST00000313735.6	-	7	919	c.686G>T	c.(685-687)aGa>aTa	p.R229I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	229					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	ACGCACGTGTCTGCAGATGTG	0.542																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(685-687)aGa>aTa		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						193	134	154					17																	26109077		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26109077C>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.686G>T	17.37:g.26109077C>A	ENSP00000327251:p.Arg229Ile		Somatic					p.R229I	NM_000625.4	NP_000616.3	WXS	Illumina GAIIx	Phase_I	P35228	NOS2_HUMAN			7	919	-			229					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.686G>T	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468625	0.63625	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.22945	1.93	5.38	3.38	0.38709	Nitric oxide synthase, oxygenase domain (3);	0.262414	0.35124	N	0.003429	T	0.27967	0.0689	M	0.72118	2.19	0.50313	D	0.999866	B;P	0.42337	0.317;0.776	B;B	0.38921	0.144;0.285	T	0.17137	-1.0379	10	0.72032	D	0.01	.	10.8762	0.46913	0.0:0.7866:0.0:0.2134	.	229;229	F8WEM3;P35228	.;NOS2_HUMAN	I	229	ENSP00000327251:R229I	ENSP00000305638:R229I	R	-	2	0	NOS2	23133204	0.976000	0.34144	0.995000	0.50966	0.803000	0.45373	1.145000	0.31577	1.285000	0.44548	-0.347000	0.07816	AGA		0.542	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		5	39	1	0	1.23904e-05	1	1.36503e-05	5	39					A	26109077	C	A	26109077	3	1	48	1	0	0	0	0	1	0	0	0	10552	913	32	2	2859	2	NOS2	17	26109077	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	469690	26109077	55086133	3716	8184										
NOS2	4843	broad.mit.edu	37	chr17	26114738	26114738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtaatattggttgacaaattCgatagcttgaggtagaagct	11	4	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:26114738C>T	ENST00000313735.6	-	5	666	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	145					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TTGACAAATTCGATAGCTTGA	0.527																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(433-435)Gaa>Aaa		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						141	146	144					17																	26114738		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26114738C>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.433G>A	17.37:g.26114738C>T	ENSP00000327251:p.Glu145Lys		Somatic					p.E145K	NM_000625.4	NP_000616.3	WXS	Illumina GAIIx	Phase_I	P35228	NOS2_HUMAN			5	666	-			145					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.433G>A	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997367	0.74818	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.24350	1.86	5.64	4.67	0.58626	Nitric oxide synthase, oxygenase domain (3);	0.250293	0.38720	N	0.001591	T	0.31670	0.0804	M	0.68317	2.08	0.43334	D	0.995374	B;P	0.37612	0.148;0.602	B;B	0.37550	0.018;0.253	T	0.16689	-1.0394	10	0.59425	D	0.04	.	15.7108	0.77626	0.0:0.8629:0.1371:0.0	.	145;145	F8WEM3;P35228	.;NOS2_HUMAN	K	145	ENSP00000327251:E145K	ENSP00000305638:E145K	E	-	1	0	NOS2	23138865	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	4.591000	0.61019	1.390000	0.46547	0.557000	0.71058	GAA		0.527	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		50	81	0	0	0	1	0	50	81					T	26114738	C	T	26114738	3	4	48	1	0	0	0	0	1	0	0	0	10552	893	31	1	3120	1	NOS2	17	26114738	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5661	26114738	55080472	3717	8185										
VTN	7448	broad.mit.edu	37	chr17	26696426	26696426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccaggcctcactgccttttCgtccagttcatagcagtact	7	15	2	0	rs555354635	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:26696426C>T	ENST00000226218.4	-	4	1171	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	TMEM199_ENST00000509083.1_Intron|VTN_ENST00000536498.1_5'UTR|SARM1_ENST00000457710.3_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|VTN_ENST00000438614.1_5'Flank|CTB-96E2.2_ENST00000555059.2_5'Flank|SARM1_ENST00000379061.4_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	185					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.E185K(1)		kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	ACTGCCTTTTCGTCCAGTTCA	0.607													C|||	2	0.000399361	0.0015	0	5008	,	,		21601	0		0	False		,,,				2504	0					ENST00000226218.4																			1	Substitution - Missense(1)	p.E185K(1)	upper_aerodigestive_tract(1)	kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(553-555)Gaa>Aaa		vitronectin	Urokinase(DB00013)						89	78	81					17																	26696426		2203	4300	6503	SO:0001583	missense	7448				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	g.chr17:26696426C>T	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"Endogenous ligands"	12724	protein-coding gene	gene with protein product	"serum spreading factor", "somatomedin B", "complement S-protein"	193190	"vitronectin (serum spreading factor, somatomedin B, complement S-protein)"			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.553G>A	17.37:g.26696426C>T	ENSP00000226218:p.Glu185Lys		Somatic				SARM1_ENST00000379061.4_Intron|SEBOX_ENST00000536498.1_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron	p.E185K	NM_000638.3	NP_000629.3	WXS	Illumina GAIIx	Phase_I	P04004	VTNC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	4	1171	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		185			Hemopexin-like 1.		B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	c.553G>A	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051438	0.75960	.	.	ENSG00000255604	ENST00000226218	T	0.02812	4.15	5.79	5.79	0.91817	Hemopexin/matrixin (2);	0.252016	0.45126	D	0.000396	T	0.09379	0.0231	M	0.69823	2.125	0.46798	D	0.999207	D	0.56746	0.977	P	0.53102	0.718	T	0.02371	-1.1169	10	0.38643	T	0.18	-23.6811	13.6704	0.62420	0.0:0.9206:0.0:0.0794	.	185	P04004	VTNC_HUMAN	K	185	ENSP00000226218:E185K	ENSP00000226218:E185K	E	-	1	0	AC002094.1	23720553	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	1.585000	0.36600	2.735000	0.93741	0.561000	0.74099	GAA		0.607	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		32	69	0	0	0	1	0	32	69					T	26696426	C	T	26696426	3	4	48	1	0	0	0	0	1	0	0	0	17252	893	31	1	903	1	VTN	17	26696426	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	581688	26696426	54498784	3718	8186										
PIGS	94005	broad.mit.edu	37	chr17	26890915	26890915	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctggaaacggcatttgatTttcattttgtctgggaggga	12	5	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:26890915T>G	ENST00000308360.7	-	4	672	c.297A>C	c.(295-297)aaA>aaC	p.K99N	PIGS_ENST00000465444.1_5'Flank|PIGS_ENST00000543734.1_Missense_Mutation_p.K38N|PIGS_ENST00000395346.2_Missense_Mutation_p.K91N	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	99					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GGCATTTGATTTTCATTTTGT	0.522																																						ENST00000308360.7																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(295-297)aaA>aaC		phosphatidylinositol glycan anchor biosynthesis, class S							151	137	142					17																	26890915		2203	4300	6503	SO:0001583	missense	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26890915T>G		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"Phosphatidylinositol glycan anchor biosynthesis"	14937	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610271	"phosphatidylinositol glycan, class S"				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.297A>C	17.37:g.26890915T>G	ENSP00000309430:p.Lys99Asn		Somatic				PIGS_ENST00000543734.1_Missense_Mutation_p.K38N|PIGS_ENST00000395346.2_Missense_Mutation_p.K91N	p.K99N	NM_033198.3	NP_149975.1	WXS	Illumina GAIIx	Phase_I	Q96S52	PIGS_HUMAN			4	672	-	Lung NSC(42;0.00431)		99					Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	c.297A>C	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.469962	0.43839	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.42513	0.97;0.97;0.97	5.21	1.48	0.22813	.	0.487651	0.24764	N	0.035784	T	0.24661	0.0598	L	0.44542	1.39	0.32647	N	0.519909	P;B	0.35124	0.485;0.43	B;B	0.34301	0.179;0.112	T	0.10590	-1.0623	10	0.17832	T	0.49	-9.7978	0.7332	0.00961	0.155:0.1991:0.2888:0.3571	.	99;91	Q96S52;Q96S52-2	PIGS_HUMAN;.	N	91;99;38	ENSP00000378755:K91N;ENSP00000309430:K99N;ENSP00000438447:K38N	ENSP00000309430:K99N	K	-	3	2	PIGS	23915042	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.604000	0.24164	0.836000	0.34901	0.533000	0.62120	AAA		0.522	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		4	124	0	0	0	1	0	4	124					G	26890915	T	G	26890915	3	3	48	1	0	0	0	0	1	0	0	0	11907	1838	64	4	1406	4	PIGS	17	26890915	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	194489	26890915	54304295	3719	8187										
RAB34	83871	broad.mit.edu	37	chr17	27041840	27041840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccccaatgcgtcgagcccccGatttctccagctcagccagc	8	19	2	0	rs376343488	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:27041840G>A	ENST00000395245.3	-	9	1309	c.683C>T	c.(682-684)tCg>tTg	p.S228L	RAB34_ENST00000453384.3_Intron|RAB34_ENST00000395242.2_Missense_Mutation_p.S229L|PROCA1_ENST00000301039.2_5'Flank|RAB34_ENST00000415040.2_Missense_Mutation_p.S206L|RAB34_ENST00000395243.3_Missense_Mutation_p.S220L|RAB34_ENST00000301043.6_Missense_Mutation_p.S228L|RAB34_ENST00000436730.3_Missense_Mutation_p.S228L|RAB34_ENST00000447716.1_Missense_Mutation_p.S285L|RAB34_ENST00000450529.1_Missense_Mutation_p.S220L	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	228					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)					TCGAGCCCCCGATTTCTCCAG	0.547													G|||	2	0.000399361	0	0	5008	,	,		20786	0		0	False		,,,				2504	0.002				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.(682-684)tCg>tTg		RAB34, member RAS oncogene family		G	,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	76	65	69		,683,854,659,830	4.6	1	17		69	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense,missense,missense	RAB34	NM_001142625.2,NM_031934.5,NM_001144943.1,NM_001144942.1,NM_001142624.2	,145,145,145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign,benign,benign,benign	,228/260,285/317,220/252,277/309	27041840	1,13005	2203	4300	6503	SO:0001583	missense	83871				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr17:27041840G>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.683C>T	17.37:g.27041840G>A	ENSP00000378666:p.Ser228Leu		Somatic				RAB34_ENST00000301043.6_Missense_Mutation_p.S228L|RAB34_ENST00000395242.2_Missense_Mutation_p.S229L|RAB34_ENST00000450529.1_Missense_Mutation_p.S220L|RAB34_ENST00000453384.3_Intron|RAB34_ENST00000436730.3_Missense_Mutation_p.S228L|RAB34_ENST00000395243.3_Missense_Mutation_p.S220L|RAB34_ENST00000447716.1_Missense_Mutation_p.S285L|RAB34_ENST00000415040.2_Missense_Mutation_p.S206L	p.S228L	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	WXS	Illumina GAIIx	Phase_I	Q9BZG1	RAB34_HUMAN			9	1309	-	Lung NSC(42;0.00431)		228					B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Missense_Mutation	SNP	ENST00000395245.3	37	c.683C>T	CCDS11240.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193420	0.38707	0.0	1.16E-4	ENSG00000109113	ENST00000447716;ENST00000301043;ENST00000395243;ENST00000415040;ENST00000450529;ENST00000395242;ENST00000395245;ENST00000436730;ENST00000430132	T;T;T;T;T;T;T;T	0.71341	-0.15;-0.12;-0.56;0.2;-0.52;-0.12;-0.12;-0.08	5.62	4.59	0.56863	.	0.159590	0.53938	D	0.000060	T	0.50411	0.1614	L	0.27053	0.805	0.37782	D	0.927067	B;B;P;B;B;B	0.41131	0.384;0.011;0.739;0.007;0.006;0.384	B;B;B;B;B;B	0.25614	0.038;0.005;0.062;0.007;0.004;0.038	T	0.63180	-0.6695	9	0.24483	T	0.36	-3.4941	14.7611	0.69607	0.0:0.1452:0.8548:0.0	.	206;220;251;243;229;228	E9PEJ9;Q9BZG1-2;C9JI96;B4DNC0;A8MYQ9;Q9BZG1	.;.;.;.;.;RAB34_HUMAN	L	285;228;220;206;243;229;228;251;229	ENSP00000410403:S285L;ENSP00000301043:S228L;ENSP00000378664:S220L;ENSP00000410279:S206L;ENSP00000391048:S243L;ENSP00000378663:S229L;ENSP00000378666:S228L;ENSP00000404180:S251L	ENSP00000301043:S228L	S	-	2	0	RAB34	24065967	0.999000	0.42202	0.974000	0.42286	0.983000	0.72400	4.623000	0.61247	2.642000	0.89623	0.563000	0.77884	TCG		0.547	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934		25	58	0	0	0	1	0	25	58					A	27041840	G	A	27041840	3	1	48	1	0	0	0	0	1	0	0	0	12939	1059	37	1	168	1	RAB34	17	27041840	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	150925	27041840	54153370	3720	8188										
NUFIP2	57532	broad.mit.edu	37	chr17	27620866	27620866	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctgctcatgtttcagcggcTttggctgggccttggggctg	15	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:27620866T>G	ENST00000225388.4	-	1	270	c.212A>C	c.(211-213)aAg>aCg	p.K71T	NUFIP2_ENST00000579665.1_Missense_Mutation_p.K71T	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	71						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)			TTTCAGCGGCTTTGGCTGGGC	0.597																																						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.(211-213)aAg>aCg		nuclear fragile X mental retardation protein interacting protein 2							207	205	206					17																	27620866		2203	4300	6503	SO:0001583	missense	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620866T>G	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.212A>C	17.37:g.27620866T>G	ENSP00000225388:p.Lys71Thr		Somatic				NUFIP2_ENST00000579665.1_Missense_Mutation_p.K71T	p.K71T	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)		1	270	-			71					A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.212A>C	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.589279	0.46214	.	.	ENSG00000108256	ENST00000225388	.	.	.	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000002	T	0.40145	0.1105	N	0.24115	0.695	0.34876	D	0.744095	B;B	0.32245	0.22;0.361	B;B	0.33799	0.047;0.17	T	0.53173	-0.8476	9	0.30854	T	0.27	-7.0179	13.5953	0.61987	0.0:0.0:0.0:1.0	.	71;71	Q7Z417;A1L3A6	NUFP2_HUMAN;.	T	71	.	ENSP00000225388:K71T	K	-	2	0	NUFIP2	24644992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.872000	0.48467	2.100000	0.63781	0.383000	0.25322	AAG		0.597	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		9	201	0	0	0	1	0	9	201					G	27620866	T	G	27620866	3	3	48	1	0	0	0	0	1	0	0	0	10758	1609	56	4	1891	4	NUFIP2	17	27620866	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	579026	27620866	53574344	3721	8189										
SSH2	85464	broad.mit.edu	37	chr17	27959445	27959445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcattctttgaattcttacGagtggacaatgaggtacatg	9	6	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:27959445G>A	ENST00000269033.3	-	15	2837	c.2686C>T	c.(2686-2688)Cgt>Tgt	p.R896C	SSH2_ENST00000540801.1_Missense_Mutation_p.R923C|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	896					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						GAATTCTTACGAGTGGACAAT	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.(2686-2688)Cgt>Tgt		slingshot protein phosphatase 2							179	187	184					17																	27959445		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.chr17:27959445G>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.2686C>T	17.37:g.27959445G>A	ENSP00000269033:p.Arg896Cys		Somatic				RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.R923C	p.R896C	NM_033389.2	NP_203747.2	WXS	Illumina GAIIx	Phase_I	Q76I76	SSH2_HUMAN			15	2837	-			896					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.2686C>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543792	0.65198	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.21932	2.01;1.98	5.97	5.0	0.66597	.	0.883551	0.10210	N	0.702237	T	0.45054	0.1323	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	0.12811	-1.0533	10	0.87932	D	0	-12.3375	9.8953	0.41316	0.0692:0.0:0.7923:0.1385	.	923;896	F5H527;Q76I76	.;SSH2_HUMAN	C	896;923	ENSP00000269033:R896C;ENSP00000444743:R923C	ENSP00000269033:R896C	R	-	1	0	SSH2	24983571	1.000000	0.71417	0.910000	0.35882	0.987000	0.75469	5.229000	0.65316	1.544000	0.49359	0.579000	0.79373	CGT		0.512	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		76	138	0	0	0	1	0	76	138					A	27959445	G	A	27959445	3	1	48	1	0	0	0	0	1	0	0	0	15200	1058	37	1	1589	1	SSH2	17	27959445	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	338579	27959445	53235765	3722	8190										
SSH2	85464	broad.mit.edu	37	chr17	28003889	28003889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgaactctgttatccgtcGatacactgaacccactaagg	8	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28003889G>A	ENST00000269033.3	-	7	633	c.482C>T	c.(481-483)tCg>tTg	p.S161L	SSH2_ENST00000540801.1_Missense_Mutation_p.S188L|RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000324677.7_5'UTR	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	161					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						GTTATCCGTCGATACACTGAA	0.368																																						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.(481-483)tCg>tTg		slingshot protein phosphatase 2							108	103	105					17																	28003889		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.chr17:28003889G>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.482C>T	17.37:g.28003889G>A	ENSP00000269033:p.Ser161Leu		Somatic				RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.S188L|SSH2_ENST00000324677.7_5'UTR	p.S161L	NM_033389.2	NP_203747.2	WXS	Illumina GAIIx	Phase_I	Q76I76	SSH2_HUMAN			7	633	-			161					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.482C>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483774	0.84854	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848;ENST00000324677	T;T	0.36340	1.26;1.26	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.44953	0.1318	M	0.66939	2.045	0.80722	D	1	P;P;P;B;P	0.44946	0.763;0.846;0.846;0.161;0.651	B;B;B;B;B	0.41332	0.354;0.09;0.311;0.035;0.193	T	0.46911	-0.9157	10	0.87932	D	0	-9.9818	20.8598	0.99761	0.0:0.0:1.0:0.0	.	188;161;168;161;161	F5H527;Q76I76-3;G5E957;Q76I76-4;Q76I76	.;.;.;.;SSH2_HUMAN	L	161;188;161;168	ENSP00000269033:S161L;ENSP00000444743:S188L	ENSP00000269033:S161L	S	-	2	0	SSH2	25028015	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	8.008000	0.88588	2.937000	0.99478	0.650000	0.86243	TCG		0.368	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		11	33	0	0	0	1	0	11	33					A	28003889	G	A	28003889	3	1	48	1	0	0	0	0	1	0	0	0	15200	1059	37	1	3825	1	SSH2	17	28003889	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	44444	28003889	53191321	3723	8191										
EFCAB5	374786	broad.mit.edu	37	chr17	28405274	28405274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaagccacaccctggtcacGaagtgagattgtcttcaaaa	8	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28405274G>A	ENST00000394835.3	+	15	2971	c.2779G>A	c.(2779-2781)Gaa>Aaa	p.E927K	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E803K	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	927							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						CCCTGGTCACGAAGTGAGATT	0.413																																						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.(2779-2781)Gaa>Aaa		EF-hand calcium binding domain 5							71	68	69					17																	28405274		1876	4102	5978	SO:0001583	missense	374786						calcium ion binding	g.chr17:28405274G>A	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.2779G>A	17.37:g.28405274G>A	ENSP00000378312:p.Glu927Lys		Somatic				EFCAB5_ENST00000320856.5_Missense_Mutation_p.E803K|EFCAB5_ENST00000394832.2_Intron	p.E927K	NM_198529.3	NP_940931.2	WXS	Illumina GAIIx	Phase_I	A4FU69	EFCB5_HUMAN			15	2971	+			927					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.2779G>A	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930391	0.73327	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.10960	2.82;2.85;2.84	5.32	5.32	0.75619	EF-hand-like domain (1);	0.121249	0.36740	N	0.002439	T	0.31575	0.0801	M	0.65975	2.015	0.80722	D	1	D;P	0.89917	1.0;0.925	D;B	0.77004	0.989;0.199	T	0.00802	-1.1560	10	0.46703	T	0.11	-17.7639	16.1577	0.81677	0.0:0.0:1.0:0.0	.	803;927	E7EVS9;A4FU69	.;EFCB5_HUMAN	K	927;803;609	ENSP00000378312:E927K;ENSP00000322003:E803K;ENSP00000417009:E609K	ENSP00000322003:E803K	E	+	1	0	EFCAB5	25429400	1.000000	0.71417	0.942000	0.38095	0.561000	0.35649	3.645000	0.54389	2.494000	0.84150	0.655000	0.94253	GAA		0.413	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		18	47	0	0	0	1	0	18	47					A	28405274	G	A	28405274	3	1	48	1	0	0	0	0	1	0	0	0	4940	1059	37	1	3004	1	EFCAB5	17	28405274	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	401385	28405274	52789936	3724	8192										
EFCAB5	374786	broad.mit.edu	37	chr17	28414099	28414099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggattcagactatgttttaCgcaacatgatggttacaggg	11	6	1	2	rs201514253		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28414099C>T	ENST00000394835.3	+	19	3790	c.3598C>T	c.(3598-3600)Cgc>Tgc	p.R1200C	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R1076C	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1200							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						CTATGTTTTACGCAACATGAT	0.393																																						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.(3598-3600)Cgc>Tgc		EF-hand calcium binding domain 5							132	121	125					17																	28414099		1912	4142	6054	SO:0001583	missense	374786						calcium ion binding	g.chr17:28414099C>T	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.3598C>T	17.37:g.28414099C>T	ENSP00000378312:p.Arg1200Cys		Somatic				EFCAB5_ENST00000320856.5_Missense_Mutation_p.R1076C|EFCAB5_ENST00000394832.2_Intron	p.R1200C	NM_198529.3	NP_940931.2	WXS	Illumina GAIIx	Phase_I	A4FU69	EFCB5_HUMAN			19	3790	+			1200					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.3598C>T	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062230	0.36373	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.17054	2.3;2.35;2.34	5.53	4.57	0.56435	.	0.103999	0.42821	N	0.000649	T	0.14141	0.0342	L	0.46157	1.445	0.80722	D	1	B;P	0.36048	0.333;0.534	B;B	0.28991	0.061;0.097	T	0.03875	-1.0996	10	0.49607	T	0.09	-5.0702	10.2799	0.43532	0.0:0.8424:0.0:0.1576	.	1076;1200	E7EVS9;A4FU69	.;EFCB5_HUMAN	C	1200;1076;882	ENSP00000378312:R1200C;ENSP00000322003:R1076C;ENSP00000417009:R882C	ENSP00000322003:R1076C	R	+	1	0	EFCAB5	25438225	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	2.114000	0.41911	1.484000	0.48361	0.555000	0.69702	CGC		0.393	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		17	40	0	0	0	1	0	17	40					T	28414099	C	T	28414099	3	4	48	1	0	0	0	0	1	0	0	0	4940	536	19	1	3839	1	EFCAB5	17	28414099	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	8825	28414099	52781111	3725	8193										
EFCAB5	374786	broad.mit.edu	37	chr17	28417440	28417440	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatttggttttgatttcagaGatttcctctttaaatgtact	6	5	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28417440G>A	ENST00000394835.3	+	20	3877	c.3685G>A	c.(3685-3687)Gat>Aat	p.D1229N	EFCAB5_ENST00000394832.2_Intron|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000320856.5_Splice_Site_p.D1105N	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1229							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						TGATTTCAGAGATTTCCTCTT	0.398																																						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.e20-1		EF-hand calcium binding domain 5							68	73	71					17																	28417440		1885	4113	5998	SO:0001630	splice_region_variant	374786						calcium ion binding	g.chr17:28417440G>A	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.3684-1G>A	17.37:g.28417440G>A			Somatic				EFCAB5_ENST00000320856.5_Splice_Site_p.D1105_splice|EFCAB5_ENST00000394832.2_Intron|RP11-1148O4.2_ENST00000582938.1_RNA	p.D1229_splice	NM_198529.3	NP_940931.2	WXS	Illumina GAIIx	Phase_I	A4FU69	EFCB5_HUMAN			20	3877	+			1229					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Splice_Site	SNP	ENST00000394835.3	37	c.3683_splice	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876692	0.51801	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.15952	2.38;2.42;2.42	5.45	4.48	0.54585	.	0.109432	0.39274	N	0.001408	T	0.28797	0.0714	M	0.74258	2.255	0.80722	D	1	P;P	0.47034	0.889;0.889	B;P	0.47075	0.399;0.536	T	0.08330	-1.0727	10	0.66056	D	0.02	-26.6521	13.1455	0.59459	0.0766:0.0:0.9234:0.0	.	1105;1229	E7EVS9;A4FU69	.;EFCB5_HUMAN	N	1229;1105;911	ENSP00000378312:D1229N;ENSP00000322003:D1105N;ENSP00000417009:D911N	ENSP00000322003:D1105N	D	+	1	0	EFCAB5	25441566	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.516000	0.53436	1.287000	0.44583	0.655000	0.94253	GAT		0.398	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529	Missense_Mutation	18	29	0	0	0	1	0	18	29					A	28417440	G	A	28417440	5	1	48	1	0	0	0	0	0	0	1	0	4940	956	33	3	3930	3	EFCAB5	17	28417440	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3341	28417440	52777770	3726	8194										
CPD	1362	broad.mit.edu	37	chr17	28776572	28776572	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtttctggtttttgaaagtTtgggacagagcactgaatat	11	4	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28776572T>G	ENST00000225719.4	+	13	2951	c.2875T>G	c.(2875-2877)Ttg>Gtg	p.L959V	CPD_ENST00000543464.2_Splice_Site_p.L712V	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	959	Carboxypeptidase-like 3.					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						TTTTGAAAGTTTGGGACAGAG	0.348																																						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.e13-1		carboxypeptidase D							102	96	98					17																	28776572		2203	4300	6503	SO:0001630	splice_region_variant	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28776572T>G	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.2874-1T>G	17.37:g.28776572T>G			Somatic				CPD_ENST00000543464.2_Splice_Site_p.L712_splice	p.L959_splice	NM_001304.4	NP_001295.2	WXS	Illumina GAIIx	Phase_I	O75976	CBPD_HUMAN			13	2951	+			959			Carboxypeptidase-like 3.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Splice_Site	SNP	ENST00000225719.4	37	c.2873_splice	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.761309	0.49468	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.11385	2.78;2.78	5.23	5.23	0.72850	Peptidase M14, carboxypeptidase A (2);	0.000000	0.64402	D	0.000001	T	0.18045	0.0433	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.996;0.999	T	0.04178	-1.0971	10	0.31617	T	0.26	-26.3197	8.1243	0.30988	0.0:0.1568:0.0:0.8432	.	712;959	F5GZH6;O75976	.;CBPD_HUMAN	V	959;712	ENSP00000225719:L959V;ENSP00000444443:L712V	ENSP00000225719:L959V	L	+	1	2	CPD	25800698	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.307000	0.33516	2.100000	0.63781	0.482000	0.46254	TTG		0.348	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304	Missense_Mutation	8	70	0	0	0	1	0	8	70					G	28776572	T	G	28776572	5	3	48	1	0	0	0	0	0	0	1	0	3800	1855	64	4	2925	4	CPD	17	28776572	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	359132	28776572	52418638	3727	8195										
ATAD5	79915	broad.mit.edu	37	chr17	29162582	29162582	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggggctattccaggcaaaAacagagagggaaacactcaa	11	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29162582A>C	ENST00000321990.4	+	2	1861	c.1483A>C	c.(1483-1485)Aac>Cac	p.N495H	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	495					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCCAGGCAAAAACAGAGAGGG	0.308																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(1483-1485)Aac>Cac		ATPase family, AAA domain containing 5							52	59	57					17																	29162582		2202	4297	6499	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29162582A>C		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.1483A>C	17.37:g.29162582A>C	ENSP00000313171:p.Asn495His		Somatic				CTD-2349P21.11_ENST00000580873.1_RNA	p.N495H	NM_024857.3	NP_079133.3	WXS	Illumina GAIIx	Phase_I	Q96QE3	ATAD5_HUMAN			2	1861	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	495					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.1483A>C	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	A	0.765	-0.768026	0.02974	.	.	ENSG00000176208	ENST00000321990	T	0.09163	3.01	5.96	2.59	0.31030	.	1.017460	0.07832	N	0.961559	T	0.23926	0.0579	M	0.64997	1.995	0.09310	N	1	D;P	0.63880	0.993;0.906	P;P	0.56700	0.804;0.459	T	0.12889	-1.0530	10	0.66056	D	0.02	.	8.8594	0.35247	0.7989:0.0:0.2011:0.0	.	495;495	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	H	495	ENSP00000313171:N495H	ENSP00000313171:N495H	N	+	1	0	ATAD5	26186708	0.508000	0.26154	0.185000	0.23176	0.184000	0.23303	1.703000	0.37846	1.072000	0.40860	0.533000	0.62120	AAC		0.308	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		23	45	0	0	0	1	0	23	45					C	29162582	A	C	29162582	3	2	48	1	0	0	0	0	1	0	0	0	1076	14	1	4	1489	4	ATAD5	17	29162582	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	386010	29162582	52032628	3728	8196										
ATAD5	79915	broad.mit.edu	37	chr17	29220402	29220402	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagattttttatatagtaatCttgagtttattctaccatta	4	4	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29220402C>A	ENST00000321990.4	+	21	4909	c.4531C>A	c.(4531-4533)Ctt>Att	p.L1511I		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1511					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATATAGTAATCTTGAGTTTAT	0.348																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(4531-4533)Ctt>Att		ATPase family, AAA domain containing 5							74	90	84					17																	29220402		2195	4295	6490	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29220402C>A		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"ATPases / AAA-type"	25752	protein-coding gene	gene with protein product	"enhanced level of genomic instability 1 homolog (S. cerevisiae)"	609534	"chromosome 17 open reading frame 41"	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4531C>A	17.37:g.29220402C>A	ENSP00000313171:p.Leu1511Ile		Somatic					p.L1511I	NM_024857.3	NP_079133.3	WXS	Illumina GAIIx	Phase_I	Q96QE3	ATAD5_HUMAN			21	4909	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1511					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.4531C>A	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078647	0.76528	.	.	ENSG00000176208	ENST00000321990	T	0.19938	2.11	5.68	5.68	0.88126	.	0.189093	0.43110	N	0.000601	T	0.38161	0.1030	L	0.54323	1.7	0.41425	D	0.987823	D	0.69078	0.997	D	0.65443	0.935	T	0.01596	-1.1316	10	0.33940	T	0.23	.	13.3667	0.60689	0.0:0.9278:0.0:0.0722	.	1511	Q96QE3	ATAD5_HUMAN	I	1511	ENSP00000313171:L1511I	ENSP00000313171:L1511I	L	+	1	0	ATAD5	26244528	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.235000	0.51328	2.837000	0.97791	0.591000	0.81541	CTT		0.348	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		27	68	1	0	3.73808e-20	1	5.11168e-20	27	68					A	29220402	C	A	29220402	3	1	48	1	0	0	0	0	1	0	0	0	1076	913	32	2	4613	2	ATAD5	17	29220402	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	57820	29220402	51974808	3729	8197										
ADAP2	55803	broad.mit.edu	37	chr17	29253886	29253886	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctccgtgtgaaggccaagttCgaagccagagtcccagcttt	11	12	0	2	rs529826184		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29253886C>T	ENST00000330889.3	+	3	602	c.267C>T	c.(265-267)ttC>ttT	p.F89F	ADAP2_ENST00000580525.1_Silent_p.F95F	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	89	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)|p.F89F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGGCCAAGTTCGAAGCCAGAG	0.488													C|||	1	0.000199681	0	0	5008	,	,		22291	0		0	False		,,,				2504	0.001					ENST00000330889.3																			2	Unknown(1)|Substitution - coding silent(1)	p.?(1)|p.F89F(1)	breast(1)|central_nervous_system(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(265-267)ttC>ttT		ArfGAP with dual PH domains 2							126	103	111					17																	29253886		2203	4300	6503	SO:0001819	synonymous_variant	55803				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	g.chr17:29253886C>T	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16487	protein-coding gene	gene with protein product		608635	"centaurin, alpha 2"	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.267C>T	17.37:g.29253886C>T			Somatic				ADAP2_ENST00000580525.1_Silent_p.F95F	p.F89F	NM_018404.2	NP_060874.1	WXS	Illumina GAIIx	Phase_I	Q9NPF8	ADAP2_HUMAN			3	602	+			89			Arf-GAP.		Q8N4Q6|Q96SD5	Silent	SNP	ENST00000330889.3	37	c.267C>T	CCDS11261.1																																																																																				0.488	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		19	43	0	0	0	1	0	19	43					T	29253886	C	T	29253886	2	4	48	1	0	0	0	0	0	0	0	1	280	883	31	1		1	ADAP2	17	29253886	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	33484	29253886	51941324	3730	8198										
ADAP2	55803	broad.mit.edu	37	chr17	29261312	29261312	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgaagtacttcacaaaggaAcaggtaagatgccagaccaa	9	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29261312A>G	ENST00000330889.3	+	5	842	c.507A>G	c.(505-507)gaA>gaG	p.E169E	ADAP2_ENST00000580525.1_Silent_p.E175E	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	169	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TCACAAAGGAACAGGTAAGAT	0.473																																						ENST00000330889.3																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(505-507)gaA>gaG		ArfGAP with dual PH domains 2							67	56	60					17																	29261312		2203	4300	6503	SO:0001819	synonymous_variant	55803				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	g.chr17:29261312A>G	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16487	protein-coding gene	gene with protein product		608635	"centaurin, alpha 2"	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.507A>G	17.37:g.29261312A>G			Somatic				ADAP2_ENST00000580525.1_Silent_p.E175E	p.E169E	NM_018404.2	NP_060874.1	WXS	Illumina GAIIx	Phase_I	Q9NPF8	ADAP2_HUMAN			5	842	+			169			PH 1.		Q8N4Q6|Q96SD5	Silent	SNP	ENST00000330889.3	37	c.507A>G	CCDS11261.1																																																																																				0.473	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		9	22	0	0	0	1	0	9	22					G	29261312	A	G	29261312	2	3	48	1	0	0	0	0	0	0	0	1	280	40	2	4		4	ADAP2	17	29261312	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	7426	29261312	51933898	3731	8199										
NF1	4763	broad.mit.edu	37	chr17	29684049	29684049	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagtgtctgaatcaaatgttCtcttggatgaagaagtactt	9	6	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29684049C>A	ENST00000358273.4	+	53	8193	c.7810C>A	c.(7810-7812)Ctc>Atc	p.L2604I	NF1_ENST00000356175.3_Missense_Mutation_p.L2583I|NF1_ENST00000444181.2_Missense_Mutation_p.L397I|NF1_ENST00000417592.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2604					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCAAATGTTCTCTTGGATGA	0.423			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(7810-7812)Ctc>Atc		neurofibromin 1							194	184	187					17																	29684049		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29684049C>A		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.7810C>A	17.37:g.29684049C>A	ENSP00000351015:p.Leu2604Ile	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	Somatic				NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Missense_Mutation_p.L397I|NF1_ENST00000356175.3_Missense_Mutation_p.L2583I	p.L2604I	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)	53	8193	+		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)	2604					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.7810C>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961143	0.92791	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.78364	1.29;1.45;1.11;-1.17	5.87	5.87	0.94306	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88336	0.6409	M	0.71206	2.165	0.80722	D	1	D;D;D	0.71674	0.998;0.974;0.998	D;D;D	0.80764	0.99;0.969;0.994	D	0.88074	0.2802	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	397;2583;2604	B4DXH1;P21359-2;P21359	.;.;NF1_HUMAN	I	2604;2583;2249;397	ENSP00000351015:L2604I;ENSP00000348498:L2583I;ENSP00000389907:L2249I;ENSP00000396481:L397I	ENSP00000348498:L2583I	L	+	1	0	NF1	26708175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.025000	0.76449	2.941000	0.99782	0.655000	0.94253	CTC		0.423	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		46	90	1	0	7.05121e-23	1	9.83114e-23	46	90					A	29684049	C	A	29684049	3	1	48	1	0	0	0	0	1	0	0	0	10365	913	32	2	8081	2	NF1	17	29684049	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	422737	29684049	51511161	3732	8200										
CCT6B	10693	broad.mit.edu	37	chr17	33269503	33269503	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atctaaactttctttctcacCttttgattaatgacgacaaa	3	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:33269503C>A	ENST00000314144.5	-	7	1000	c.885G>T	c.(883-885)aaG>aaT	p.K295N	CCT6B_ENST00000421975.3_Splice_Site_p.K258N|CCT6B_ENST00000436961.3_Splice_Site_p.K250N	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	295					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TCTTTCTCACCTTTTGATTAA	0.323																																						ENST00000314144.5																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20						c.e7+1		chaperonin containing TCP1, subunit 6B (zeta 2)							61	58	59					17																	33269503		2203	4296	6499	SO:0001630	splice_region_variant	10693				chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	g.chr17:33269503C>A	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"Heat Shock Proteins / Chaperonins"	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.885+1G>T	17.37:g.33269503C>A			Somatic				CCT6B_ENST00000421975.3_Splice_Site_p.K258_splice|CCT6B_ENST00000436961.3_Splice_Site_p.K250_splice	p.K295_splice	NM_006584.3	NP_006575.2	WXS	Illumina GAIIx	Phase_I	Q92526	TCPW_HUMAN			7	1000	-		Ovarian(249;0.17)	295					B4DX20|B4DYB0|Q8TC34	Splice_Site	SNP	ENST00000314144.5	37	c.885_splice	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544197	0.65198	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	D;D;D	0.82255	-1.59;-1.59;-1.59	3.74	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.94843	0.8334	H	0.99565	4.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.995;0.98	D	0.96419	0.9310	9	.	.	.	-10.1058	13.4123	0.60950	0.0:1.0:0.0:0.0	.	250;258;295	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	N	258;295;250	ENSP00000398044:K258N;ENSP00000327191:K295N;ENSP00000400917:K250N	.	K	-	3	2	CCT6B	30293616	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	7.033000	0.76504	2.062000	0.61559	0.467000	0.42956	AAG		0.323	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584	Missense_Mutation	10	13	1	0	1.76689e-08	1	2.08373e-08	10	13					A	33269503	C	A	33269503	5	1	48	1	0	0	0	0	0	0	1	0	2960	695	24	5	739	5	CCT6B	17	33269503	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3585454	33269503	47925707	3733	8201										
SLFN11	91607	broad.mit.edu	37	chr17	33679887	33679887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggctattggatctgcattgcGaactattctggtgagctctt	11	8	3	1	rs200734680		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:33679887G>A	ENST00000394566.1	-	7	2466	c.2194C>T	c.(2194-2196)Cgc>Tgc	p.R732C	SLFN11_ENST00000308377.4_Missense_Mutation_p.R732C	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	732					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.R732C(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		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTGCATTGCGAACTATTCTG	0.443																																						ENST00000394566.1																			1	Substitution - Missense(1)	p.R732C(1)	large_intestine(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.(2194-2196)Cgc>Tgc		schlafen family member 11							141	139	140					17																	33679887		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33679887G>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.2194C>T	17.37:g.33679887G>A	ENSP00000378067:p.Arg732Cys		Somatic				SLFN11_ENST00000308377.4_Missense_Mutation_p.R732C	p.R732C	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	2466	-		Ovarian(249;0.17)	732					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.2194C>T	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	g	9.725	1.160599	0.21454	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	D;D	0.98105	-4.72;-4.72	3.85	2.88	0.33553	.	0.000000	0.48767	D	0.000176	D	0.95850	0.8649	M	0.79926	2.475	0.25052	N	0.991124	D	0.54397	0.966	B	0.39094	0.29	D	0.91658	0.5340	10	0.87932	D	0	.	7.3942	0.26927	0.1209:0.0:0.8791:0.0	.	732	Q7Z7L1	SLN11_HUMAN	C	732	ENSP00000312402:R732C;ENSP00000378067:R732C	ENSP00000312402:R732C	R	-	1	0	SLFN11	30704000	0.115000	0.22152	0.016000	0.15963	0.130000	0.20726	2.299000	0.43611	0.953000	0.37825	0.655000	0.94253	CGC		0.443	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		46	92	0	0	0	1	0	46	92					A	33679887	G	A	33679887	3	1	48	1	0	0	0	0	1	0	0	0	14748	1058	37	1	515	1	SLFN11	17	33679887	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	410384	33679887	47515323	3734	8202										
SLFN11	91607	broad.mit.edu	37	chr17	33690361	33690361	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttccaagatttttggcttccTtttggtcttcaggaaacaga	8	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:33690361T>G	ENST00000394566.1	-	4	738	c.466A>C	c.(466-468)Agg>Cgg	p.R156R	SLFN11_ENST00000308377.4_Silent_p.R156R	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	156					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)		TTTGGCTTCCTTTTGGTCTTC	0.483																																						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.(466-468)Agg>Cgg		schlafen family member 11							92	94	93					17																	33690361		2203	4300	6503	SO:0001819	synonymous_variant	91607					nucleus	ATP binding	g.chr17:33690361T>G	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.466A>C	17.37:g.33690361T>G			Somatic				SLFN11_ENST00000308377.4_Silent_p.R156R	p.R156R	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	738	-		Ovarian(249;0.17)	156					E1P643|Q8N3S8|Q8N762|Q8TEE0	Silent	SNP	ENST00000394566.1	37	c.466A>C	CCDS11294.1																																																																																				0.483	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		38	72	0	0	0	1	0	38	72					G	33690361	T	G	33690361	2	3	48	1	0	0	0	0	0	0	0	1	14748	1608	56	4		4	SLFN11	17	33690361	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	10474	33690361	47504849	3735	8203										
TAF15	8148	broad.mit.edu	37	chr17	34163181	34163181	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caacacaatctttgtgcaagGacttggggagggtgtgtcta	13	7	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34163181G>T	ENST00000588240.1	+	10	834	c.719G>T	c.(718-720)gGa>gTa	p.G240V	TAF15_ENST00000592237.1_Missense_Mutation_p.G149V|TAF15_ENST00000311979.3_Missense_Mutation_p.G237V	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTTGTGCAAGGACTTGGGGAG	0.318			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"			"L, M"	"TEC, CHN1, ZNF384"		"extraskeletal myxoid chondrosarcomas, ALL"	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(718-720)gGa>gTa		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							86	87	87					17																	34163181		2203	4299	6502	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34163181G>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.719G>T	17.37:g.34163181G>T	ENSP00000466950:p.Gly240Val		Somatic				TAF15_ENST00000311979.3_Missense_Mutation_p.G237V|TAF15_ENST00000592237.1_Missense_Mutation_p.G149V	p.G240V	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)	10	834	+		Ovarian(249;0.17)	240			RRM.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	c.719G>T	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267708	0.80469	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	5.46	5.46	0.80206	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	D	0.87402	0.6168	H	0.95260	3.645	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.993	D	0.90701	0.4620	8	0.87932	D	0	-6.3391	17.1738	0.86836	0.0:0.0:1.0:0.0	.	240;237	Q92804;Q92804-2	RBP56_HUMAN;.	V	240;43	.	ENSP00000309558:G240V	G	+	2	0	TAF15	31187294	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.420000	0.97426	2.726000	0.93360	0.655000	0.94253	GGA		0.318	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		16	24	1	0	5.03518e-11	1	6.23768e-11	16	24					T	34163181	G	T	34163181	3	4	48	1	0	0	0	0	1	0	0	0	15533	1174	41	2	757	2	TAF15	17	34163181	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	472820	34163181	47032029	3736	8204										
C17orf66	256957	broad.mit.edu	37	chr17	34182689	34182689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcttcttcacagcctggtgGttttctgcatctagtaagtc	8	11	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34182689G>A	ENST00000311880.2	-	14	1492	c.1344C>T	c.(1342-1344)aaC>aaT	p.N448N	C17orf66_ENST00000592980.1_Silent_p.N408N	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		448					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)		CAGCCTGGTGGTTTTCTGCAT	0.527																																						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.(1342-1344)aaC>aaT		chromosome 17 open reading frame 66							128	118	121					17																	34182689		2203	4300	6503	SO:0001819	synonymous_variant	256957						binding	g.chr17:34182689G>A																												ENST00000311880.2:c.1344C>T	17.37:g.34182689G>A			Somatic				C17orf66_ENST00000592980.1_Silent_p.N408N	p.N448N	NM_152781.2	NP_689994.2	WXS	Illumina GAIIx	Phase_I	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	14	1492	-		Ovarian(249;0.17)	448					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	ENST00000311880.2	37	c.1344C>T	CCDS11299.1																																																																																				0.527	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			30	67	0	0	0	1	0	30	67					A	34182689	G	A	34182689	2	1	48	1	0	0	0	0	0	0	0	1	1876	1252	44	3		3	C17orf66	17	34182689	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	19508	34182689	47012521	3737	8205										
MYO19	80179	broad.mit.edu	37	chr17	34854398	34854398	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttagcagcaaggcaggccatTctgatcttaaaaagcaaata	8	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34854398T>C	ENST00000431794.3	-	25	2991	c.2469A>G	c.(2467-2469)agA>agG	p.R823R	MYO19_ENST00000268852.9_Silent_p.R623R|ZNHIT3_ENST00000588253.1_3'UTR	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	823						cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGCAGGCCATTCTGATCTTAA	0.428																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(2467-2469)agA>agG		myosin XIX							38	37	37					17																	34854398		1923	4120	6043	SO:0001819	synonymous_variant	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34854398T>C	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2469A>G	17.37:g.34854398T>C			Somatic				ZNHIT3_ENST00000588253.1_3'UTR|MYO19_ENST00000268852.9_Silent_p.R623R	p.R823R	NM_001163735.1	NP_001157207.1	WXS	Illumina GAIIx	Phase_I	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	25	2991	-		Breast(25;0.00957)|Ovarian(249;0.17)	823					Q59GS4|Q9H5X2	Silent	SNP	ENST00000431794.3	37	c.2469A>G	CCDS54112.1																																																																																				0.428	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		11	16	0	0	0	1	0	11	16					C	34854398	T	C	34854398	2	2	48	1	0	0	0	0	0	0	0	1	10076	1780	62	4		4	MYO19	17	34854398	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	671709	34854398	46340812	3738	8206										
MRM1	79154	broad.mit.edu	37	chr17	34958728	34958728	+	IGR	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggaattttggggctgtgctGcgttccgcacacttcctcgg	13	12	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34958728G>C	ENST00000251312.5	+	0	1598				MRM1_ENST00000250156.7_Silent_p.L163L|MRM1_ENST00000585770.1_Intron	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						GGGCTGTGCTGCGTTCCGCAC	0.622																																						ENST00000250156.7																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(487-489)ctG>ctC		mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)							25	24	25					17																	34958728		2103	4101	6204	SO:0001628	intergenic_variant	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34958728G>C		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.34958728G>C			Somatic				MRM1_ENST00000585770.1_Intron	p.L163L	NM_024864.3	NP_079140.2	WXS	Illumina GAIIx	Phase_I	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	1	728	+		Breast(25;0.00957)|Ovarian(249;0.17)	163					B2RDZ3|Q9BUC7|Q9H674	Silent	SNP	ENST00000251312.5	37	c.489G>C	CCDS11315.2																																																																																				0.622	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		23	32	0	0	0	1	0	23	32					C	34958728	G	C	34958728	1	2	48	0	1	0	0	0	0	0	0	0	9780	1306	46	5		5	MRM1	17	34958728	IGR	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	104330	34958728	46236482	3739	8207										
MRM1	79154	broad.mit.edu	37	chr17	34959070	34959070	+	IGR	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgatgacctcaccggatttTtacaggtaatgaggggcaag	12	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34959070T>G	ENST00000251312.5	+	0	1598				MRM1_ENST00000250156.7_Missense_Mutation_p.L211V|MRM1_ENST00000585770.1_Missense_Mutation_p.L16V	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						CACCGGATTTTTACAGGTAAT	0.582											OREG0024338	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000250156.7																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(631-633)Tta>Gta		mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)							80	78	79					17																	34959070		2203	4300	6503	SO:0001628	intergenic_variant	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34959070T>G		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.34959070T>G			Somatic	OREG0024338	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	851	MRM1_ENST00000585770.1_Missense_Mutation_p.L16V	p.L211V	NM_024864.3	NP_079140.2	WXS	Illumina GAIIx	Phase_I	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	2	870	+		Breast(25;0.00957)|Ovarian(249;0.17)	211					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.631T>G	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	T	18.57	3.651637	0.67472	.	.	ENSG00000129282	ENST00000250156	T	0.50548	0.74	5.55	-2.67	0.06059	tRNA/rRNA methyltransferase, SpoU (1);	0.169277	0.39615	N	0.001304	T	0.50274	0.1606	M	0.65498	2.005	0.35100	D	0.765143	P	0.35656	0.514	P	0.49708	0.62	T	0.54043	-0.8352	10	0.32370	T	0.25	-2.5965	7.2329	0.26053	0.1275:0.4962:0.0:0.3763	.	211	Q6IN84	MRM1_HUMAN	V	211	ENSP00000250156:L211V	ENSP00000250156:L211V	L	+	1	2	MRM1	32033183	0.924000	0.31332	0.585000	0.28666	0.889000	0.51656	-0.047000	0.11963	-0.453000	0.07076	0.533000	0.62120	TTA		0.582	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		4	77	0	0	0	1	0	4	77					G	34959070	T	G	34959070	1	3	48	0	1	0	0	0	0	0	0	0	9780	1838	64	4		4	MRM1	17	34959070	IGR	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	342	34959070	46236140	3740	8208										
GPR179	440435	broad.mit.edu	37	chr17	36482602	36482602	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctttctggaaagaagtgatCcagaggcccatggactaaaa	11	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:36482602C>A	ENST00000342292.4	-	11	6870	c.6850G>T	c.(6850-6852)Gat>Tat	p.D2284Y	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2284					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)				AAGAAGTGATCCAGAGGCCCA	0.493																																						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.(6850-6852)Gat>Tat		G protein-coupled receptor 179							131	124	126					17																	36482602		1855	4101	5956	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36482602C>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6850G>T	17.37:g.36482602C>A	ENSP00000345060:p.Asp2284Tyr		Somatic				GPR179_ENST00000584976.1_Intron	p.D2284Y	NM_001004334.2	NP_001004334.2	WXS	Illumina GAIIx	Phase_I	Q6PRD1	GP179_HUMAN			11	6870	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	2284						Missense_Mutation	SNP	ENST00000342292.4	37	c.6850G>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306898	0.23821	.	.	ENSG00000188888	ENST00000342292	T	0.54675	0.56	4.64	2.61	0.31194	.	0.590740	0.14376	N	0.323458	T	0.31513	0.0799	N	0.22421	0.69	0.09310	N	1	B	0.33135	0.399	B	0.24701	0.055	T	0.18587	-1.0332	10	0.59425	D	0.04	-0.3405	4.68	0.12731	0.1468:0.6015:0.1646:0.0871	.	2284	Q6PRD1	GP179_HUMAN	Y	2284	ENSP00000345060:D2284Y	ENSP00000345060:D2284Y	D	-	1	0	GPR179	33736128	0.000000	0.05858	0.003000	0.11579	0.820000	0.46376	0.047000	0.14056	0.662000	0.31006	0.585000	0.79938	GAT		0.493	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			62	107	1	0	2.66076e-39	1	3.84021e-39	62	107					A	36482602	C	A	36482602	3	1	48	1	0	0	0	0	1	0	0	0	6682	855	30	2	257	2	GPR179	17	36482602	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1523532	36482602	44712608	3741	8209										
PIP4K2B	8396	broad.mit.edu	37	chr17	36933975	36933975	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagtttctccaggaagttctTtttactctcctctcccacat	4	14	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:36933975T>G	ENST00000269554.3	-	7	1252	c.772A>C	c.(772-774)Aag>Cag	p.K258Q	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	258	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						AGGAAGTTCTTTTTACTCTCC	0.473																																						ENST00000269554.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						c.(772-774)Aag>Cag		phosphatidylinositol-5-phosphate 4-kinase, type II, beta							200	185	190					17																	36933975		2203	4300	6503	SO:0001583	missense	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.chr17:36933975T>G	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.772A>C	17.37:g.36933975T>G	ENSP00000269554:p.Lys258Gln		Somatic				PIP4K2B_ENST00000311500.6_5'UTR	p.K258Q	NM_003559.4	NP_003550.1	WXS	Illumina GAIIx	Phase_I	P78356	PI42B_HUMAN			7	1252	-			258			PIPK.		Q5U0E8|Q8TBP2	Missense_Mutation	SNP	ENST00000269554.3	37	c.772A>C	CCDS11329.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355609	0.61293	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	T	0.36878	1.23	4.74	4.74	0.60224	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.43646	1.37	0.80722	D	1	B;B;B	0.21071	0.005;0.004;0.051	B;B;B	0.32090	0.006;0.003;0.14	T	0.13442	-1.0509	10	0.33940	T	0.23	-24.4154	13.4902	0.61390	0.0:0.0:0.0:1.0	.	258;258;258	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	Q	258	ENSP00000269554:K258Q	ENSP00000269554:K258Q	K	-	1	0	PIP4K2B	34187501	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.482000	0.81143	2.128000	0.65567	0.459000	0.35465	AAG		0.473	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		35	62	0	0	0	1	0	35	62					G	36933975	T	G	36933975	3	3	48	1	0	0	0	0	1	0	0	0	11946	1850	64	4	494	4	PIP4K2B	17	36933975	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	451373	36933975	44261235	3742	8210										
MED1	5469	broad.mit.edu	37	chr17	37564014	37564014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgctgtattctggaagtggtCggataccatcgtctgagctg	13	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:37564014C>T	ENST00000300651.6	-	17	4683	c.4460G>A	c.(4459-4461)cGa>cAa	p.R1487Q	CTB-131K11.1_ENST00000582842.1_RNA|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)		TGGAAGTGGTCGGATACCATC	0.458										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.(4459-4461)cGa>cAa		mediator complex subunit 1							97	90	92					17																	37564014		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.chr17:37564014C>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.4460G>A	17.37:g.37564014C>T	ENSP00000300651:p.Arg1487Gln	HNSCC(31;0.082)	Somatic				MED1_ENST00000394287.3_Intron	p.R1487Q	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	4683	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1487					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.4460G>A	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838252	0.51057	.	.	ENSG00000125686	ENST00000300651	T	0.47528	0.84	4.88	4.88	0.63580	.	.	.	.	.	T	0.50000	0.1590	N	0.24115	0.695	0.48830	D	0.999713	D	0.69078	0.997	P	0.55965	0.788	T	0.47935	-0.9078	9	0.39692	T	0.17	-4.2017	18.5898	0.91206	0.0:1.0:0.0:0.0	.	1487	Q15648	MED1_HUMAN	Q	1487	ENSP00000300651:R1487Q	ENSP00000300651:R1487Q	R	-	2	0	MED1	34817540	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.862000	0.69560	2.691000	0.91804	0.561000	0.74099	CGA		0.458	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		15	24	0	0	0	1	0	15	24					T	37564014	C	T	37564014	3	4	48	1	0	0	0	0	1	0	0	0	9434	884	31	1	289	1	MED1	17	37564014	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	630039	37564014	43631196	3743	8211										
STARD3	10948	broad.mit.edu	37	chr17	37814703	37814703	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acctgctccccatcgtctctTttgtcctcgcctggttggag	9	15	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:37814703T>G	ENST00000336308.5	+	6	693	c.475T>G	c.(475-477)Ttt>Gtt	p.F159V	STARD3_ENST00000394250.4_Missense_Mutation_p.F141V|STARD3_ENST00000544210.2_Silent_p.L154L|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000580611.1_Missense_Mutation_p.F133V	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	159	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CATCGTCTCTTTTGTCCTCGC	0.602																																						ENST00000336308.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14						c.(475-477)Ttt>Gtt		StAR-related lipid transfer (START) domain containing 3							116	85	96					17																	37814703		2203	4300	6503	SO:0001583	missense	0				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity	g.chr17:37814703T>G		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"StAR-related lipid transfer (START) domain containing"	17579	protein-coding gene	gene with protein product		607048	"START domain containing 3"				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.475T>G	17.37:g.37814703T>G	ENSP00000337446:p.Phe159Val		Somatic				STARD3_ENST00000580611.1_Missense_Mutation_p.F133V|STARD3_ENST00000544210.2_Silent_p.L154L|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000394250.4_Missense_Mutation_p.F141V	p.F159V	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	WXS	Illumina GAIIx	Phase_I	Q14849	STAR3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		6	693	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		159			MENTAL.		A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	c.475T>G	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	T	34	5.338414	0.95783	.	.	ENSG00000131748	ENST00000336308;ENST00000394250;ENST00000443521	T;T;T	0.55760	0.5;0.5;0.5	5.26	5.26	0.73747	MENTAL domain (2);	0.000000	0.85682	D	0.000000	T	0.71290	0.3322	.	.	.	0.80722	D	1	P;P	0.50710	0.938;0.938	P;P	0.62089	0.835;0.898	T	0.75872	-0.3164	9	0.87932	D	0	.	15.1724	0.72884	0.0:0.0:0.0:1.0	.	141;159	A8MXA4;Q14849	.;STAR3_HUMAN	V	159;141;159	ENSP00000337446:F159V;ENSP00000377794:F141V;ENSP00000411710:F159V	ENSP00000337446:F159V	F	+	1	0	STARD3	35068229	1.000000	0.71417	0.997000	0.53966	0.844000	0.47949	7.698000	0.84413	1.989000	0.58080	0.533000	0.62120	TTT		0.602	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1			21	34	0	0	0	1	0	21	34					G	37814703	T	G	37814703	3	3	48	1	0	0	0	0	1	0	0	0	15272	1841	64	4	493	4	STARD3	17	37814703	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	250689	37814703	43380507	3744	8212										
WIPF2	147179	broad.mit.edu	37	chr17	38421170	38421170	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggaccaagtggccagtctCtggctcctcctcctccgcct	9	18	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:38421170C>T	ENST00000323571.4	+	5	982	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Silent_p.L248L|WIPF2_ENST00000583130.1_Silent_p.L248L	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	248					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						TGGCCAGTCTCTGGCTCCTCC	0.602										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.(742-744)Ctg>Ttg		WAS/WASL interacting protein family, member 2							162	147	153					17																	38421170		2203	4300	6503	SO:0001819	synonymous_variant	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38421170C>T	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.742C>T	17.37:g.38421170C>T		HNSCC(43;0.11)	Somatic				WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Silent_p.L248L|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000583130.1_Silent_p.L248L	p.L248L	NM_133264.4	NP_573571.1	WXS	Illumina GAIIx	Phase_I	Q8TF74	WIPF2_HUMAN			5	982	+			248					A8K0L3|Q658J8|Q71RE1|Q8TE44	Silent	SNP	ENST00000323571.4	37	c.742C>T	CCDS11364.1																																																																																				0.602	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		14	224	0	0	0	1	0	14	224					T	38421170	C	T	38421170	2	4	48	1	0	0	0	0	0	0	0	1	17383	912	32	3		3	WIPF2	17	38421170	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	606467	38421170	42774040	3745	8213										
CDC6	990	broad.mit.edu	37	chr17	38458221	38458221	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctgaaagataaagctttaAttggaaatatcttagctact	6	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:38458221A>C	ENST00000209728.4	+	12	2122	c.1651A>C	c.(1651-1653)Att>Ctt	p.I551L	CTD-2267D19.6_ENST00000602403.1_lincRNA	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	551					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						TAAAGCTTTAATTGGAAATAT	0.368																																						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.(1651-1653)Att>Ctt		cell division cycle 6							105	110	109					17																	38458221		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.chr17:38458221A>C	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.1651A>C	17.37:g.38458221A>C	ENSP00000209728:p.Ile551Leu		Somatic					p.I551L	NM_001254.3	NP_001245.1	WXS	Illumina GAIIx	Phase_I	Q99741	CDC6_HUMAN			12	2122	+			551					Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.1651A>C	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.724865	0.30593	.	.	ENSG00000094804	ENST00000209728	T	0.39056	1.1	5.76	2.36	0.29203	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.600846	0.18173	N	0.149384	T	0.21427	0.0516	N	0.19112	0.55	0.27786	N	0.942982	B	0.06786	0.001	B	0.04013	0.001	T	0.30238	-0.9985	10	0.05525	T	0.97	-0.9442	8.4597	0.32921	0.6749:0.0:0.3251:0.0	.	551	Q99741	CDC6_HUMAN	L	551	ENSP00000209728:I551L	ENSP00000209728:I551L	I	+	1	0	CDC6	35711747	0.640000	0.27243	0.823000	0.32752	0.991000	0.79684	0.094000	0.15107	0.198000	0.20407	0.533000	0.62120	ATT		0.368	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			20	47	0	0	0	1	0	20	47					C	38458221	A	C	38458221	3	2	48	1	0	0	0	0	1	0	0	0	3085	101	4	4	1693	4	CDC6	17	38458221	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	37051	38458221	42736989	3746	8214										
KRT24	192666	broad.mit.edu	37	chr17	38859658	38859658	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaacccctgccaaatccagaGaccccgccaaagctagaacc	7	17	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:38859658G>T	ENST00000264651.2	-	1	344	c.288C>A	c.(286-288)gtC>gtA	p.V96V		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	96	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)				CAAATCCAGAGACCCCGCCAA	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.(286-288)gtC>gtA		keratin 24							103	126	118					17																	38859658		2203	4300	6503	SO:0001819	synonymous_variant	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38859658G>T		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.288C>A	17.37:g.38859658G>T			Somatic					p.V96V	NM_019016.2	NP_061889.2	WXS	Illumina GAIIx	Phase_I	Q2M2I5	K1C24_HUMAN			1	344	-		Breast(137;0.00526)	96			Gly-rich.|Head.		Q9NXG7	Silent	SNP	ENST00000264651.2	37	c.288C>A	CCDS11372.1																																																																																				0.567	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		85	160	1	0	1.07134e-49	1	1.55542e-49	85	160					T	38859658	G	T	38859658	2	4	48	1	0	0	0	0	0	0	0	1	8470	929	33	2		2	KRT24	17	38859658	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	401437	38859658	42335552	3747	8215										
KRTAP1-1	81851	broad.mit.edu	37	chr17	39197617	39197617	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccactggtggagcagctgggAaatccacagaagctggtctg	14	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39197617A>C	ENST00000306271.4	-	1	96	c.33T>G	c.(31-33)ttT>ttG	p.F11L		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	11						keratin filament (GO:0045095)				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCAGCTGGGAAATCCACAGA	0.582																																						ENST00000306271.4																			0				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14						c.(31-33)ttT>ttG		keratin associated protein 1-1							48	56	54					17																	39197617		1954	4162	6116	SO:0001583	missense	81851					extracellular region|keratin filament		g.chr17:39197617A>C	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"Keratin associated proteins"	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.33T>G	17.37:g.39197617A>C	ENSP00000305975:p.Phe11Leu		Somatic					p.F11L	NM_030967.2	NP_112229.1	WXS	Illumina GAIIx	Phase_I	Q07627	KRA11_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	96	-		Breast(137;0.000496)	11					A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	c.33T>G	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	A	6.707	0.499089	0.12762	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.35605	1.3	4.56	-1.88	0.07713	.	.	.	.	.	T	0.31670	0.0804	M	0.68593	2.085	0.29954	N	0.820017	B	0.33345	0.409	B	0.33620	0.167	T	0.40327	-0.9569	9	0.11182	T	0.66	.	11.5772	0.50869	0.3711:0.0:0.6289:0.0	.	11	Q07627	KRA11_HUMAN	L	11	ENSP00000305975:F11L	ENSP00000305975:F11L	F	-	3	2	KRTAP1-1	36451143	0.275000	0.24201	0.956000	0.39512	0.573000	0.36030	-0.186000	0.09670	-0.365000	0.08076	-0.268000	0.10319	TTT		0.582	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		24	61	0	0	0	1	0	24	61					C	39197617	A	C	39197617	3	2	48	1	0	0	0	0	1	0	0	0	8511	243	9	4	504	4	KRTAP1-1	17	39197617	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	337959	39197617	41997593	3748	8216										
KRTAP9-4	85280	broad.mit.edu	37	chr17	39406152	39406152	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaacttgctgtcaaaacacCtgctgccagcccacctgtgt	7	16	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39406152C>T	ENST00000334109.2	+	1	214	c.180C>T	c.(178-180)acC>acT	p.T60T		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	60	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GTCAAAACACCTGCTGCCAGC	0.642																																						ENST00000334109.2																			0				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(178-180)acC>acT		keratin associated protein 9-4							72	63	66					17																	39406152		2203	4300	6503	SO:0001819	synonymous_variant	85280					keratin filament		g.chr17:39406152C>T	AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"Keratin associated proteins"	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.180C>T	17.37:g.39406152C>T			Somatic					p.T60T	NM_033191.2	NP_149461.2	WXS	Illumina GAIIx	Phase_I	Q9BYQ2	KRA94_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	214	+		Breast(137;0.000496)	60			15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].		Q0VAE3	Silent	SNP	ENST00000334109.2	37	c.180C>T	CCDS11386.1																																																																																				0.642	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257306.1			52	106	0	0	0	1	0	52	106					T	39406152	C	T	39406152	2	4	48	1	0	0	0	0	0	0	0	1	8584	668	24	3		3	KRTAP9-4	17	39406152	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	208535	39406152	41789058	3749	8217										
KRT33B	3884	broad.mit.edu	37	chr17	39521451	39521451	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgtgctgggcctgcagctcGatctccagggcattgactgt	13	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39521451G>A	ENST00000251646.3	-	5	901	c.852C>T	c.(850-852)atC>atT	p.I284I		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	284	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CCTGCAGCTCGATCTCCAGGG	0.597																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(850-852)atC>atT		keratin 33B							107	97	100					17																	39521451		2193	4298	6491	SO:0001819	synonymous_variant	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521451G>A	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"-", "Intermediate filaments type I, keratins (acidic)"	6451	protein-coding gene	gene with protein product	"hard keratin type I 3II"	602762	"keratin, hair, acidic, 3B"	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.852C>T	17.37:g.39521451G>A			Somatic					p.I284I	NM_002279.4	NP_002270.1	WXS	Illumina GAIIx	Phase_I	Q14525	KT33B_HUMAN			5	901	-		Breast(137;0.000496)	284			Coil 2.|Rod.		O76010	Silent	SNP	ENST00000251646.3	37	c.852C>T	CCDS11389.1																																																																																				0.597	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		53	103	0	0	0	1	0	53	103					A	39521451	G	A	39521451	2	1	48	1	0	0	0	0	0	0	0	1	8479	1048	37	1		1	KRT33B	17	39521451	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	115299	39521451	41673759	3750	8218										
KRT19	3880	broad.mit.edu	37	chr17	39681143	39681143	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agctcttccttcaggccttcGatctgcatctccaggtcggt	9	14	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39681143G>A	ENST00000361566.3	-	3	672	c.612C>T	c.(610-612)atC>atT	p.I204I	KRT15_ENST00000254043.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	204	Coil 1B.|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)	p.L195fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				TCAGGCCTTCGATCTGCATCT	0.607																																						ENST00000361566.3																			1	Deletion - Frameshift(1)	p.L195fs*3(1)	breast(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12						c.(610-612)atC>atT		keratin 19							127	137	133					17																	39681143		2203	4300	6503	SO:0001819	synonymous_variant	3880							g.chr17:39681143G>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.612C>T	17.37:g.39681143G>A			Somatic					p.I204I	NM_002276.4	NP_002267.2	WXS	Illumina GAIIx	Phase_I					3	672	-		Breast(137;0.00038)						B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Silent	SNP	ENST00000361566.3	37	c.612C>T	CCDS11399.1																																																																																				0.607	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		60	93	0	0	0	1	0	60	93					A	39681143	G	A	39681143	2	1	48	1	0	0	0	0	0	0	0	1	8465	1048	37	1		1	KRT19	17	39681143	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	159692	39681143	41514067	3751	8219										
KRT9	3857	broad.mit.edu	37	chr17	39725739	39725739	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caatgagctgctcatactccTgacgcatgtcattgagggtc	10	11	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39725739T>C	ENST00000246662.4	-	4	1048	c.983A>G	c.(982-984)cAg>cGg	p.Q328R	KRT9_ENST00000588431.1_Missense_Mutation_p.Q95R	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	328	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)				CTCATACTCCTGACGCATGTC	0.502																																						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.(982-984)cAg>cGg		keratin 9							216	174	188					17																	39725739		2203	4300	6503	SO:0001583	missense	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39725739T>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.983A>G	17.37:g.39725739T>C	ENSP00000246662:p.Gln328Arg		Somatic				KRT9_ENST00000588431.1_Missense_Mutation_p.Q95R	p.Q328R	NM_000226.3	NP_000217.2	WXS	Illumina GAIIx	Phase_I	P35527	K1C9_HUMAN			4	1048	-		Breast(137;0.000307)	328			Coil 2.|Rod.		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	c.983A>G	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	T	8.679	0.904618	0.17760	.	.	ENSG00000171403	ENST00000246662	T	0.80738	-1.41	4.25	4.25	0.50352	Filament (1);	.	.	.	.	T	0.70448	0.3225	L	0.43152	1.355	0.09310	N	1	P	0.34864	0.473	B	0.34991	0.193	T	0.58020	-0.7710	9	0.23302	T	0.38	.	6.0647	0.19856	0.0:0.0881:0.1631:0.7487	.	328	P35527	K1C9_HUMAN	R	328	ENSP00000246662:Q328R	ENSP00000246662:Q328R	Q	-	2	0	KRT9	36979265	0.000000	0.05858	0.008000	0.14137	0.197000	0.23852	0.040000	0.13905	1.538000	0.49270	0.459000	0.35465	CAG		0.502	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		5	47	0	0	0	1	0	5	47					C	39725739	T	C	39725739	3	2	48	1	0	0	0	0	1	0	0	0	8510	1580	55	4	904	4	KRT9	17	39725739	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	44596	39725739	41469471	3752	8220										
FKBP10	60681	broad.mit.edu	37	chr17	39978543	39978543	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgcctgggcaggaccctgaGaaaaccataggagacatgtt	12	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39978543G>T	ENST00000321562.4	+	10	1736	c.1632G>T	c.(1630-1632)gaG>gaT	p.E544D	FKBP10_ENST00000544340.1_Missense_Mutation_p.E317D	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	544	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)		AGGACCCTGAGAAAACCATAG	0.602																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(1630-1632)gaG>gaT		FK506 binding protein 10, 65 kDa							79	64	69					17																	39978543		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.chr17:39978543G>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.1632G>T	17.37:g.39978543G>T	ENSP00000317232:p.Glu544Asp		Somatic				FKBP10_ENST00000544340.1_Missense_Mutation_p.E317D	p.E544D	NM_021939.3	NP_068758.3	WXS	Illumina GAIIx	Phase_I	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	10	1736	+		Breast(137;0.00122)	544			EF-hand 2.		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	c.1632G>T	CCDS11409.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.857|9.857	1.195141|1.195141	0.22037|0.22037	.|.	.|.	ENSG00000141756|ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000544340|ENST00000455106	T;T|.	0.57595|.	0.39;0.39|.	5.93|5.93	3.8|3.8	0.43715|0.43715	EF-hand-like domain (1);|.	0.202755|.	0.40818|.	N|.	0.001001|.	T|T	0.32496|0.32496	0.0831|0.0831	N|N	0.05280|0.05280	-0.08|-0.08	0.42202|0.42202	D|D	0.991771|0.991771	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.12156|.	0.003;0.007|.	T|T	0.12426|0.12426	-1.0548|-1.0548	10|5	0.10902|.	T|.	0.67|.	-34.1933|-34.1933	10.3685|10.3685	0.44039|0.44039	0.0693:0.2649:0.6658:0.0|0.0693:0.2649:0.6658:0.0	.|.	317;544|.	Q9H6J3;Q96AY3|.	.;FKB10_HUMAN|.	D|I	432;544;317|348	ENSP00000317232:E544D;ENSP00000442009:E317D|.	ENSP00000269598:E432D|.	E|R	+|+	3|2	2|0	FKBP10|FKBP10	37232069|37232069	0.100000|0.100000	0.21855|0.21855	1.000000|1.000000	0.80357|0.80357	0.808000|0.808000	0.45660|0.45660	-0.067000|-0.067000	0.11579|0.11579	1.487000|1.487000	0.48415|0.48415	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.602	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		7	21	1	0	0.0293803	1	0.0299069	7	21					T	39978543	G	T	39978543	3	4	48	1	0	0	0	0	1	0	0	0	5910	933	33	2	1670	2	FKBP10	17	39978543	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	252804	39978543	41216667	3753	8221										
KLHL10	317719	broad.mit.edu	37	chr17	40001831	40001831	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actccagacgttgctatgtcAgtgtgacagtcctcggcaat	10	11	1	2	rs375231468		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:40001831A>G	ENST00000293303.4	+	3	1291	c.1138A>G	c.(1138-1140)Agt>Ggt	p.S380G	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	380					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)				TTGCTATGTCAGTGTGACAGT	0.453																																						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.(1138-1140)Agt>Ggt		kelch-like family member 10		A	GLY/SER	1,4009		0,1,2004	104	101	102		1138	6.1	1	17		102	0,8352		0,0,4176	no	missense	KLHL10	NM_152467.3	56	0,1,6180	GG,GA,AA		0.0,0.0249,0.0081	probably-damaging	380/609	40001831	1,12361	2005	4176	6181	SO:0001583	missense	317719					cytoplasm		g.chr17:40001831A>G	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.1138A>G	17.37:g.40001831A>G	ENSP00000293303:p.Ser380Gly		Somatic					p.S380G	NM_152467.3	NP_689680.2	WXS	Illumina GAIIx	Phase_I	Q6JEL2	KLH10_HUMAN			3	1291	+		Breast(137;0.000162)	380					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.1138A>G	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.528492	0.85706	2.49E-4	0.0	ENSG00000161594	ENST00000293303	T	0.74002	-0.8	6.07	6.07	0.98685	Galactose oxidase, beta-propeller (1);	0.145964	0.85682	D	0.000000	T	0.68320	0.2988	N	0.12422	0.21	0.58432	D	0.999996	P;D	0.55605	0.64;0.972	B;P	0.53224	0.272;0.721	T	0.68637	-0.5356	9	.	.	.	.	15.4647	0.75390	1.0:0.0:0.0:0.0	.	374;380	B4DXV2;Q6JEL2	.;KLH10_HUMAN	G	380	ENSP00000293303:S380G	.	S	+	1	0	KLHL10	37255357	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.867000	0.75511	2.326000	0.78906	0.533000	0.62120	AGT		0.453	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		6	81	0	0	0	1	0	6	81					G	40001831	A	G	40001831	3	3	48	1	0	0	0	0	1	0	0	0	8375	188	7	4	1148	4	KLHL10	17	40001831	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	23288	40001831	41193379	3754	8222										
ACLY	47	broad.mit.edu	37	chr17	40063734	40063734	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgaaggggggagggaactcGatgtcaccccacttcacttt	12	12	2	0	rs374252025		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:40063734G>A	ENST00000352035.2	-	7	838	c.708C>T	c.(706-708)atC>atT	p.I236I	ACLY_ENST00000590151.1_Silent_p.I236I|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Silent_p.I236I|ACLY_ENST00000393896.2_Silent_p.I236I	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	236	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GAGGGAACTCGATGTCACCCC	0.587																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(706-708)atC>atT		ATP citrate lyase		G	,	2,4404	4.2+/-10.8	0,2,2201	93	85	87		708,708	-8.1	0.6	17		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ACLY	NM_001096.2,NM_198830.1	,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,	236/1102,236/1092	40063734	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40063734G>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.708C>T	17.37:g.40063734G>A			Somatic				ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Silent_p.I236I|ACLY_ENST00000393896.2_Silent_p.I236I|ACLY_ENST00000590151.1_Silent_p.I236I	p.I236I	NM_001096.2	NP_001087.2	WXS	Illumina GAIIx	Phase_I	P53396	ACLY_HUMAN			7	838	-		Breast(137;0.000143)	236					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.708C>T	CCDS11412.1																																																																																				0.587	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		35	69	0	0	0	1	0	35	69					A	40063734	G	A	40063734	2	1	48	1	0	0	0	0	0	0	0	1	143	1048	37	1		1	ACLY	17	40063734	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	61903	40063734	41131476	3755	8223										
WNK4	65266	broad.mit.edu	37	chr17	40947053	40947053	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctcctccagcacacccgagTttccggtcccactctctcag	6	19	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:40947053T>C	ENST00000246914.5	+	14	2635	c.2614T>C	c.(2614-2616)Ttt>Ctt	p.F872L		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	872					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)		CACACCCGAGTTTCCGGTCCC	0.567																																					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.(2614-2616)Ttt>Ctt		WNK lysine deficient protein kinase 4							195	176	183					17																	40947053		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40947053T>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.2614T>C	17.37:g.40947053T>C	ENSP00000246914:p.Phe872Leu		Somatic					p.F872L	NM_032387.4	NP_115763.2	WXS	Illumina GAIIx	Phase_I	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	14	2635	+		Breast(137;0.000143)	872					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.2614T>C	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	T	2.689	-0.273525	0.05679	.	.	ENSG00000126562	ENST00000246914	T	0.22539	1.95	5.56	1.83	0.25207	.	0.270420	0.26532	N	0.023854	T	0.11537	0.0281	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.35151	-0.9800	10	0.10902	T	0.67	-7.293	8.5394	0.33384	0.0:0.0708:0.3512:0.578	.	872;872;872	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	L	872	ENSP00000246914:F872L	ENSP00000246914:F872L	F	+	1	0	WNK4	38200579	0.001000	0.12720	0.374000	0.26016	0.090000	0.18270	0.301000	0.19174	0.461000	0.27071	0.482000	0.46254	TTT		0.567	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			55	82	0	0	0	1	0	55	82					C	40947053	T	C	40947053	3	2	48	1	0	0	0	0	1	0	0	0	17395	1725	60	4	2668	4	WNK4	17	40947053	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	883319	40947053	40248157	3756	8224										
CNTD1	124817	broad.mit.edu	37	chr17	40956314	40956314	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagagataataagagagagtCtcagaattggagggctctga	13	4	2	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:40956314C>A	ENST00000588408.1	+	3	593	c.317C>A	c.(316-318)tCt>tAt	p.S106Y	CNTD1_ENST00000588527.1_Missense_Mutation_p.S23Y	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	106	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AAGAGAGAGTCTCAGAATTGG	0.458																																						ENST00000588408.1																			0				central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						c.(316-318)tCt>tAt		cyclin N-terminal domain containing 1							122	115	117					17																	40956314		2203	4300	6503	SO:0001583	missense	124817							g.chr17:40956314C>A	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"cyclin N-terminal domain containing"	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.317C>A	17.37:g.40956314C>A	ENSP00000465204:p.Ser106Tyr		Somatic				CNTD1_ENST00000588527.1_Missense_Mutation_p.S23Y	p.S106Y	NM_173478.2	NP_775749.2	WXS	Illumina GAIIx	Phase_I	Q8N815	CNTD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	3	593	+		Breast(137;0.00104)	106			Cyclin N-terminal.		Q658Q6|Q8NEP1	Missense_Mutation	SNP	ENST00000588408.1	37	c.317C>A	CCDS11440.1	.	.	.	.	.	.	.	.	.	.	C	2.525	-0.309810	0.05458	.	.	ENSG00000176563	ENST00000315066	.	.	.	5.23	2.16	0.27623	Cyclin-like (2);	1.040630	0.07517	N	0.909869	T	0.25606	0.0623	N	0.14661	0.345	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.26326	-1.0106	9	0.59425	D	0.04	0.0559	4.7037	0.12839	0.1497:0.5978:0.0:0.2526	.	106	Q8N815	CNTD1_HUMAN	Y	106	.	ENSP00000316647:S106Y	S	+	2	0	CNTD1	38209840	0.000000	0.05858	0.013000	0.15412	0.020000	0.10135	-0.049000	0.11924	0.216000	0.20781	-0.254000	0.11334	TCT		0.458	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478		28	69	1	0	1.16021e-09	1	1.40238e-09	28	69					A	40956314	C	A	40956314	3	1	48	1	0	0	0	0	1	0	0	0	3637	913	32	2	327	2	CNTD1	17	40956314	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	9261	40956314	40238896	3757	8225										
G6PC3	92579	broad.mit.edu	37	chr17	42152412	42152412	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcttgtcgcgaatcttcatCttagcacatttccctcacca	6	14	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42152412C>A	ENST00000269097.4	+	4	723	c.492C>A	c.(490-492)atC>atA	p.I164I		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	164					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GAATCTTCATCTTAGCACATT	0.552																																						ENST00000269097.4																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.(490-492)atC>atA		glucose 6 phosphatase, catalytic, 3							222	210	214					17																	42152412		2203	4300	6503	SO:0001819	synonymous_variant	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42152412C>A	BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.492C>A	17.37:g.42152412C>A			Somatic					p.I164I	NM_138387.3	NP_612396.1	WXS	Illumina GAIIx	Phase_I	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	4	723	+		Breast(137;0.00637)|Prostate(33;0.0313)	164					Q8WU15	Silent	SNP	ENST00000269097.4	37	c.492C>A	CCDS11476.1																																																																																				0.552	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		49	118	1	0	6.03219e-31	1	8.6264e-31	49	118					A	42152412	C	A	42152412	2	1	48	1	0	0	0	0	0	0	0	1	6153	903	32	2		2	G6PC3	17	42152412	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1196098	42152412	39042798	3758	8226										
C17orf53	78995	broad.mit.edu	37	chr17	42225299	42225299	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgaatgctgggcgcctgaGacctgtctcttctaggccac	12	12	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42225299G>T	ENST00000319977.4	+	3	365	c.128G>T	c.(127-129)aGa>aTa	p.R43I	C17orf53_ENST00000245382.6_Missense_Mutation_p.R43I|C17orf53_ENST00000585683.1_Missense_Mutation_p.R43I	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	43										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)		GGGCGCCTGAGACCTGTCTCT	0.572																																						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.(127-129)aGa>aTa		chromosome 17 open reading frame 53							71	68	69					17																	42225299		2203	4300	6503	SO:0001583	missense	78995							g.chr17:42225299G>T	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.128G>T	17.37:g.42225299G>T	ENSP00000313500:p.Arg43Ile		Somatic				C17orf53_ENST00000585683.1_Missense_Mutation_p.R43I|C17orf53_ENST00000245382.6_Missense_Mutation_p.R43I	p.R43I	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	365	+		Breast(137;0.0364)|Prostate(33;0.0376)	43					A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	c.128G>T	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212475	0.39102	.	.	ENSG00000125319	ENST00000319977;ENST00000245382;ENST00000253405	T;T	0.48522	0.81;0.81	5.28	3.13	0.36017	.	0.073552	0.44688	D	0.000429	T	0.60586	0.2280	L	0.58101	1.795	0.40201	D	0.977517	P;D;D	0.76494	0.919;0.999;0.97	B;D;B	0.74023	0.406;0.982;0.406	T	0.64567	-0.6377	10	0.87932	D	0	-4.8517	10.0152	0.42010	0.0872:0.1465:0.7663:0.0	.	43;43;43	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	I	43	ENSP00000313500:R43I;ENSP00000245382:R43I	ENSP00000245382:R43I	R	+	2	0	C17orf53	39580825	0.150000	0.22732	0.116000	0.21606	0.095000	0.18619	1.172000	0.31908	1.417000	0.47077	0.561000	0.74099	AGA		0.572	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		6	86	1	0	0.00116845	1	0.00122532	6	86					T	42225299	G	T	42225299	3	4	48	1	0	0	0	0	1	0	0	0	1864	942	33	2	138	2	C17orf53	17	42225299	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	72887	42225299	38969911	3759	8227										
ASB16	92591	broad.mit.edu	37	chr17	42255579	42255579	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cactcctggcctaggagcacGaagccttctacagctcggcc	10	16	1	0	rs573677324		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42255579G>A	ENST00000293414.1	+	5	1267	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000588785.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	395					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTAGGAGCACGAAGCCTTCTA	0.637																																						ENST00000293414.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14						c.(1183-1185)Gaa>Aaa		ankyrin repeat and SOCS box containing 16							50	40	43					17																	42255579		2203	4300	6503	SO:0001583	missense	92591				intracellular signal transduction		protein binding	g.chr17:42255579G>A	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"Ankyrin repeat domain containing"	19768	protein-coding gene	gene with protein product		615056	"ankyrin repeat and SOCS box-containing 16"			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.1183G>A	17.37:g.42255579G>A	ENSP00000293414:p.Glu395Lys		Somatic				ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000588785.1_RNA	p.E395K	NM_080863.4	NP_543139.4	WXS	Illumina GAIIx	Phase_I	Q96NS5	ASB16_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	5	1267	+		Breast(137;0.00765)|Prostate(33;0.0313)	395					B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	c.1183G>A	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	G	2.866	-0.235070	0.05983	.	.	ENSG00000161664	ENST00000293414	T	0.61627	0.09	5.27	1.6	0.23607	.	0.545709	0.20168	N	0.097797	T	0.26085	0.0636	N	0.08118	0	0.25472	N	0.987815	B	0.18863	0.031	B	0.08055	0.003	T	0.26677	-1.0096	10	0.02654	T	1	-0.7581	5.4334	0.16466	0.2181:0.2891:0.4928:0.0	.	395	Q96NS5	ASB16_HUMAN	K	395	ENSP00000293414:E395K	ENSP00000293414:E395K	E	+	1	0	ASB16	39611105	0.000000	0.05858	0.484000	0.27391	0.285000	0.27093	0.285000	0.18883	0.161000	0.19458	-0.367000	0.07326	GAA		0.637	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			7	26	0	0	0	1	0	7	26					A	42255579	G	A	42255579	3	1	48	1	0	0	0	0	1	0	0	0	1020	1059	37	1	1201	1	ASB16	17	42255579	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	30280	42255579	38939631	3760	8228										
TMUB2	79089	broad.mit.edu	37	chr17	42268132	42268132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggtgtggtctggtacttccGaatcaattaccgccaattct	10	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42268132G>A	ENST00000587989.1	+	4	1019	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000446571.3_Missense_Mutation_p.R232Q|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000357984.3_Missense_Mutation_p.R269Q|TMUB2_ENST00000319511.6_Missense_Mutation_p.R269Q|TMUB2_ENST00000589785.1_Missense_Mutation_p.R269Q|TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000538716.2_Missense_Mutation_p.R289Q			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	289						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGGTACTTCCGAATCAATTAC	0.547																																						ENST00000319511.6																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8						c.(805-807)cGa>cAa		transmembrane and ubiquitin-like domain containing 2							141	120	127					17																	42268132		2203	4300	6503	SO:0001583	missense	79089					integral to membrane		g.chr17:42268132G>A		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.866G>A	17.37:g.42268132G>A	ENSP00000466971:p.Arg289Gln		Somatic				TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000538716.2_Missense_Mutation_p.R289Q|TMUB2_ENST00000587989.1_Missense_Mutation_p.R289Q|TMUB2_ENST00000446571.3_Missense_Mutation_p.R232Q|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.R269Q|TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000357984.3_Missense_Mutation_p.R269Q|TMUB2_ENST00000587172.1_3'UTR	p.R269Q	NM_177441.2	NP_803190.2	WXS	Illumina GAIIx	Phase_I	Q71RG4	TMUB2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	1456	+		Breast(137;0.00765)|Prostate(33;0.0181)	289					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	c.806G>A	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915837	0.73098	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.50813	0.85;0.77;0.73;0.77	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	L	0.39898	1.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.965;0.947;0.994	T	0.47674	-0.9099	10	0.16896	T	0.51	-5.9052	19.1347	0.93422	0.0:0.0:1.0:0.0	.	232;269;289	E7ESS3;Q71RG4-2;Q71RG4	.;.;TMUB2_HUMAN	Q	232;269;289;269	ENSP00000413127:R232Q;ENSP00000350672:R269Q;ENSP00000444565:R289Q;ENSP00000313214:R269Q	ENSP00000313214:R269Q	R	+	2	0	TMUB2	39623658	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.660000	0.61511	2.826000	0.97356	0.561000	0.74099	CGA		0.547	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		37	85	0	0	0	1	0	37	85					A	42268132	G	A	42268132	3	1	48	1	0	0	0	0	1	0	0	0	16280	1058	37	1	876	1	TMUB2	17	42268132	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	12553	42268132	38927078	3761	8229										
RUNDC3A	10900	broad.mit.edu	37	chr17	42392102	42392102	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggccctctgcctccccacaGacggttctatgactctggag	10	15	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42392102G>T	ENST00000426726.3	+	5	732		c.e5-1		RUNDC3A_ENST00000225441.7_Splice_Site|AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Splice_Site	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A						positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCTCCCCACAGACGGTTCTAT	0.632																																					Pancreas(82;1061 1416 11136 20771 23901)	ENST00000426726.3																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.e5-1		RUN domain containing 3A							37	37	37					17																	42392102		2012	4166	6178	SO:0001630	splice_region_variant	10900				small GTPase mediated signal transduction		small GTPase regulator activity	g.chr17:42392102G>T	AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.459-1G>T	17.37:g.42392102G>T			Somatic				AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000225441.7_Splice_Site|RUNDC3A_ENST00000590941.1_Splice_Site		NM_001144825.1	NP_001138297.1	WXS	Illumina GAIIx	Phase_I	Q59EK9	RUN3A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	5	732	+		Prostate(33;0.0233)						B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Splice_Site	SNP	ENST00000426726.3	37		CCDS45698.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801186	0.70567	.	.	ENSG00000108309	ENST00000426726;ENST00000225441	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5733	0.76356	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RUNDC3A	39747628	1.000000	0.71417	0.810000	0.32431	0.876000	0.50452	9.472000	0.97709	2.202000	0.70862	0.456000	0.33151	.		0.632	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403173.2	NM_006695	Intron	16	21	1	0	1.99824e-07	1	2.29918e-07	16	21					T	42392102	G	T	42392102	5	4	48	1	0	0	0	0	0	0	1	0	13759	956	33	2	476	2	RUNDC3A	17	42392102	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	123970	42392102	38803108	3762	8230										
ITGA2B	3674	broad.mit.edu	37	chr17	42466810	42466810	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcacccactccagaagccagAgggcttgcagtggacacaaa	11	13	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42466810A>G	ENST00000262407.5	-	1	63	c.32T>C	c.(31-33)cTc>cCc	p.L11P	ITGA2B_ENST00000353281.4_Missense_Mutation_p.L11P	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	11					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)	CAGAAGCCAGAGGGCTTGCAG	0.602																																						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.(31-33)cTc>cCc		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						77	76	76					17																	42466810		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.chr17:42466810A>G		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.32T>C	17.37:g.42466810A>G	ENSP00000262407:p.Leu11Pro		Somatic				ITGA2B_ENST00000353281.4_Missense_Mutation_p.L11P	p.L11P	NM_000419.3	NP_000410.2	WXS	Illumina GAIIx	Phase_I	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	1	63	-		Prostate(33;0.0181)	11					B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.32T>C	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.853791	0.51270	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	D;D	0.92752	-3.1;-3.1	5.73	4.65	0.58169	.	0.000000	0.30901	N	0.008641	D	0.89983	0.6873	M	0.67953	2.075	0.37363	D	0.911282	B	0.12630	0.006	B	0.12837	0.008	D	0.87681	0.2547	10	0.87932	D	0	.	9.6776	0.40050	0.9178:0.0:0.0822:0.0	.	11	P08514	ITA2B_HUMAN	P	11	ENSP00000262407:L11P;ENSP00000340536:L11P	ENSP00000262407:L11P	L	-	2	0	ITGA2B	39822336	0.997000	0.39634	0.382000	0.26119	0.522000	0.34438	3.734000	0.55037	1.011000	0.39340	0.459000	0.35465	CTC		0.602	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			22	47	0	0	0	1	0	22	47					G	42466810	A	G	42466810	3	3	48	1	0	0	0	0	1	0	0	0	7885	304	11	4	3207	4	ITGA2B	17	42466810	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	74708	42466810	38728400	3763	8231										
C17orf104	284071	broad.mit.edu	37	chr17	42745125	42745125	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagccaagccccagagtggaCattatgatcctgaggaaggt	12	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42745125C>T	ENST00000409122.2	+	5	1988	c.1846C>T	c.(1846-1848)Cat>Tat	p.H616Y	C17orf104_ENST00000359945.3_Missense_Mutation_p.H616Y|C17orf104_ENST00000409464.1_Missense_Mutation_p.H450Y	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	616										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						CCAGAGTGGACATTATGATCC	0.383																																						ENST00000409122.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						c.(1846-1848)Cat>Tat		chromosome 17 open reading frame 104							44	42	43					17																	42745125		2203	4300	6503	SO:0001583	missense	284071							g.chr17:42745125C>T		CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.1846C>T	17.37:g.42745125C>T	ENSP00000386452:p.His616Tyr		Somatic				C17orf104_ENST00000409464.1_Missense_Mutation_p.H450Y|C17orf104_ENST00000359945.3_Missense_Mutation_p.H616Y	p.H616Y	NM_001145080.2	NP_001138552.2	WXS	Illumina GAIIx	Phase_I	A2RUB1	CQ104_HUMAN			5	1988	+			616					B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	ENST00000409122.2	37	c.1846C>T	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446125	0.43429	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000409464	T;T;T	0.37584	1.2;1.19;1.22	5.66	5.66	0.87406	.	0.126895	0.53938	D	0.000044	T	0.52240	0.1722	L	0.38175	1.15	0.30859	N	0.733753	D;D;D	0.76494	0.991;0.991;0.999	P;P;D	0.68943	0.895;0.852;0.961	T	0.53401	-0.8444	10	0.59425	D	0.04	-27.4875	19.7324	0.96188	0.0:1.0:0.0:0.0	.	616;616;450	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	Y	616;616;450	ENSP00000353028:H616Y;ENSP00000386452:H616Y;ENSP00000386586:H450Y	ENSP00000353028:H616Y	H	+	1	0	C17orf104	40100651	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.308000	0.43690	2.663000	0.90544	0.655000	0.94253	CAT		0.383	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080		3	21	0	0	0	1	0	3	21					T	42745125	C	T	42745125	3	4	48	1	0	0	0	0	1	0	0	0	1853	478	17	3	1864	3	C17orf104	17	42745125	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	278315	42745125	38450085	3764	8232										
GJC1	10052	broad.mit.edu	37	chr17	42882757	42882757	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttatcactttctaactccatCtctggatacatcataggatc	4	11	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42882757C>A	ENST00000426548.1	-	3	698	c.429G>T	c.(427-429)gaG>gaT	p.E143D	GJC1_ENST00000592524.1_Missense_Mutation_p.E143D|GJC1_ENST00000330514.4_Missense_Mutation_p.E143D|GJC1_ENST00000590758.1_Missense_Mutation_p.E143D	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	143					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)				CTAACTCCATCTCTGGATACA	0.498																																						ENST00000426548.1																			0				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19						c.(427-429)gaG>gaT		gap junction protein, gamma 1, 45kDa							167	153	158					17																	42882757		2203	4300	6503	SO:0001583	missense	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882757C>A	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.429G>T	17.37:g.42882757C>A	ENSP00000411528:p.Glu143Asp		Somatic				GJC1_ENST00000592524.1_Missense_Mutation_p.E143D|GJC1_ENST00000590758.1_Missense_Mutation_p.E143D|GJC1_ENST00000330514.4_Missense_Mutation_p.E143D	p.E143D	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	WXS	Illumina GAIIx	Phase_I	P36383	CXG1_HUMAN			3	698	-		Prostate(33;0.0959)	143					B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	c.429G>T	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361049	0.24684	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.97994	-4.65;-4.65	5.27	-1.23	0.09465	.	0.757625	0.12853	N	0.433786	D	0.94775	0.8313	L	0.46741	1.465	0.39762	D	0.972038	B	0.15719	0.014	B	0.18561	0.022	D	0.87148	0.2207	10	0.37606	T	0.19	.	10.6246	0.45500	0.0:0.5976:0.0:0.4024	.	143	P36383	CXG1_HUMAN	D	143	ENSP00000411528:E143D;ENSP00000333193:E143D	ENSP00000333193:E143D	E	-	3	2	GJC1	40238283	0.948000	0.32251	0.990000	0.47175	0.903000	0.53119	0.087000	0.14958	-0.190000	0.10465	-0.379000	0.06801	GAG		0.498	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		10	137	1	0	0.000442599	1	0.00046913	10	137					A	42882757	C	A	42882757	3	1	48	1	0	0	0	0	1	0	0	0	6422	912	32	2	765	2	GJC1	17	42882757	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	137632	42882757	38312453	3765	8233										
CRHR1	1394	broad.mit.edu	37	chr17	43906647	43906647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgggccactgtatctccctgGtggccctcctggtggccttt	12	14	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:43906647G>A	ENST00000398285.3	+	5	394	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	CRHR1_ENST00000577353.1_Missense_Mutation_p.V132M|CRHR1_ENST00000339069.5_Missense_Mutation_p.V31M|CRHR1_ENST00000314537.5_Missense_Mutation_p.V132M|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000352855.5_Missense_Mutation_p.V92M	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	132					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)	p.V132L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TATCTCCCTGGTGGCCCTCCT	0.587																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			1	Substitution - Missense(1)	p.V132L(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(394-396)Gtg>Atg		corticotropin releasing hormone receptor 1							82	89	87					17																	43906647		2057	4198	6255	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43906647G>A	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"GPCR / Class B : Corticotropin-releasing factor receptors"	2357	protein-coding gene	gene with protein product	"corticotropin-releasing factor receptor"	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.394G>A	17.37:g.43906647G>A	ENSP00000381333:p.Val132Met		Somatic				CRHR1_ENST00000339069.5_Missense_Mutation_p.V31M|CRHR1_ENST00000577353.1_Missense_Mutation_p.V132M|CRHR1_ENST00000398285.3_Missense_Mutation_p.V132M|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000352855.5_Missense_Mutation_p.V92M	p.V132M	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	WXS	Illumina GAIIx	Phase_I	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	619	+	Colorectal(2;0.0416)		132					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.394G>A	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910259	0.33721	.	.	ENSG00000120088	ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T;T	0.70631	0.75;0.93;1.04;-0.5;1.04	5.43	3.37	0.38596	GPCR, family 2-like (1);	0.526411	0.20289	N	0.095288	T	0.72170	0.3427	L	0.39898	1.24	0.80722	D	1	P;B;P;D;P;P	0.58620	0.708;0.011;0.544;0.983;0.708;0.708	P;B;B;P;P;P	0.60345	0.546;0.04;0.367;0.873;0.546;0.546	T	0.69544	-0.5117	10	0.52906	T	0.07	.	8.0877	0.30782	0.0:0.1705:0.5216:0.3079	.	132;132;31;31;92;132	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	M	31;132;132;132;92	ENSP00000340522:V31M;ENSP00000381333:V132M;ENSP00000326060:V132M;ENSP00000239167:V132M;ENSP00000344068:V92M	ENSP00000326060:V132M	V	+	1	0	CRHR1	41262428	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.676000	0.46883	0.616000	0.30141	-0.311000	0.09066	GTG		0.587	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			5	29	0	0	0	1	0	5	29					A	43906647	G	A	43906647	3	1	48	1	0	0	0	0	1	0	0	0	3873	1261	44	3	412	3	CRHR1	17	43906647	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1023890	43906647	37288563	3766	8234										
KIAA1267	284058	broad.mit.edu	37	chr17	44127980	44127980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggggcttcatagtgaatttCgggaggcatggtgttgatgc	16	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:44127980C>T	ENST00000262419.6	-	7	2409	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	KANSL1_ENST00000575318.1_Missense_Mutation_p.E647K|KANSL1_ENST00000572904.1_Missense_Mutation_p.E647K|KANSL1_ENST00000432791.1_Missense_Mutation_p.E647K|KANSL1_ENST00000393476.3_Missense_Mutation_p.E4K|KANSL1_ENST00000574590.1_Missense_Mutation_p.E647K	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	647					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)											TAGTGAATTTCGGGAGGCATG	0.502																																						ENST00000262419.6																			0											c.(1939-1941)Gaa>Aaa		KAT8 regulatory NSL complex subunit 1							102	78	86					17																	44127980		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44127980C>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.1939G>A	17.37:g.44127980C>T	ENSP00000262419:p.Glu647Lys		Somatic				KANSL1_ENST00000432791.1_Missense_Mutation_p.E647K|KANSL1_ENST00000393476.3_Missense_Mutation_p.E4K|KANSL1_ENST00000575318.1_Missense_Mutation_p.E647K|KANSL1_ENST00000574590.1_Missense_Mutation_p.E647K|KANSL1_ENST00000572904.1_Missense_Mutation_p.E647K	p.E647K	NM_001193466.1	NP_001180395.1	WXS	Illumina GAIIx	Phase_I	Q7Z3B3	K1267_HUMAN			7	2409	-			647					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.1939G>A	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	33	5.243077	0.95272	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.27402	2.61;2.61;1.67	6.06	6.06	0.98353	.	0.252290	0.45606	D	0.000344	T	0.31389	0.0795	L	0.48642	1.525	0.43279	D	0.995244	P;P	0.52463	0.953;0.899	B;B	0.41764	0.182;0.366	T	0.03750	-1.1007	10	0.54805	T	0.06	-13.4669	16.1399	0.81515	0.0:1.0:0.0:0.0	.	647;647	C9JHY2;Q7Z3B3	.;K1267_HUMAN	K	647;647;4	ENSP00000262419:E647K;ENSP00000387393:E647K;ENSP00000377117:E4K	ENSP00000262419:E647K	E	-	1	0	KIAA1267	41483832	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	4.738000	0.62073	2.880000	0.98712	0.650000	0.86243	GAA		0.502	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		19	29	0	0	0	1	0	19	29					T	44127980	C	T	44127980	3	4	48	1	0	0	0	0	1	0	0	0	8228	893	31	1	1414	1	KIAA1267	17	44127980	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	221333	44127980	37067230	3767	8235										
CDC27	996	broad.mit.edu	37	chr17	45216210	45216210	+	Silent	SNP	A	A	C													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagtagatctccatgccttcAactctataattctcaatcct					rs62075659		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45216210A>C	ENST00000066544.3	-	13	1692	c.1599T>G	c.(1597-1599)gtT>gtG	p.V533V	CDC27_ENST00000531206.1_Silent_p.V539V|CDC27_ENST00000446365.2_Silent_p.V472V|CDC27_ENST00000527547.1_Silent_p.V532V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	533					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)	p.V533V(1)|p.V539V(1)		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						CCATGCCTTCAACTCTATAAT	0.318																																						ENST00000066544.3																			2	Substitution - coding silent(2)	p.V533V(1)|p.V539V(1)	large_intestine(2)	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.(1597-1599)gtT>gtG		cell division cycle 27							36	40	39					17																	45216210		2200	4297	6497	SO:0001819	synonymous_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45216210A>C	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.1599T>G	17.37:g.45216210A>C			Somatic				CDC27_ENST00000531206.1_Silent_p.V539V|CDC27_ENST00000527547.1_Silent_p.V532V|CDC27_ENST00000446365.2_Silent_p.V472V	p.V533V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	WXS	Illumina GAIIx	Phase_I	P30260	CDC27_HUMAN			13	1692	-			533					G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	c.1599T>G	CCDS11509.1																																																																																				0.318	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			3	32	0	0	0	1	0	3	32					C	45216210	A	C	45216210	2	2	48	1	0	0	0	0	0	0	0	1	3068	117	5	4		4	CDC27	17	45216210	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1088230	45216210	35979000	3768	8236	23	2								
CDC27	996	broad.mit.edu	37	chr17	45216218	45216218	+	Missense_Mutation	SNP	A	A	G													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctccatgccttcaactctatAattctcaatccttctaacct					rs539804101		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45216218A>G	ENST00000066544.3	-	13	1684	c.1591T>C	c.(1591-1593)Tat>Cat	p.Y531H	CDC27_ENST00000531206.1_Missense_Mutation_p.Y537H|CDC27_ENST00000446365.2_Missense_Mutation_p.Y470H|CDC27_ENST00000527547.1_Missense_Mutation_p.Y530H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	531					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						TCAACTCTATAATTCTCAATC	0.328																																						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.(1591-1593)Tat>Cat		cell division cycle 27							34	38	37					17																	45216218		2200	4296	6496	SO:0001583	missense	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.chr17:45216218A>G	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.1591T>C	17.37:g.45216218A>G	ENSP00000066544:p.Tyr531His		Somatic				CDC27_ENST00000531206.1_Missense_Mutation_p.Y537H|CDC27_ENST00000527547.1_Missense_Mutation_p.Y530H|CDC27_ENST00000446365.2_Missense_Mutation_p.Y470H	p.Y531H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	WXS	Illumina GAIIx	Phase_I	P30260	CDC27_HUMAN			13	1684	-			531					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.1591T>C	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.197413	0.38806	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.67345	-0.26;-0.26;0.03;-0.26	5.38	5.38	0.77491	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.056763	0.64402	D	0.000001	T	0.47451	0.1446	N	0.12611	0.24	0.50039	D	0.999841	B;B;B;B	0.23490	0.086;0.034;0.034;0.021	B;B;B;B	0.24394	0.053;0.023;0.023;0.012	T	0.43015	-0.9417	10	0.17832	T	0.49	-16.7975	13.3334	0.60503	1.0:0.0:0.0:0.0	.	470;530;537;531	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	H	531;537;470;530	ENSP00000066544:Y531H;ENSP00000434614:Y537H;ENSP00000392802:Y470H;ENSP00000437339:Y530H	ENSP00000066544:Y531H	Y	-	1	0	CDC27	42571217	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.033000	0.60031	0.528000	0.53228	TAT		0.328	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			3	28	0	0	0	1	0	3	28					G	45216218	A	G	45216218	3	3	48	1	0	0	0	0	1	0	0	0	3068	362	13	4	911	4	CDC27	17	45216218	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	8	45216218	35978992	3769	8237	23	2								
CDC27	996	broad.mit.edu	37	chr17	45249313	45249313	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caacacaacattttgcaagcAggtatttgcattgcggtgta	9	8	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45249313A>G	ENST00000066544.3	-	3	314	c.221T>C	c.(220-222)cTg>cCg	p.L74P	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.L74P|CDC27_ENST00000446365.2_Intron|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000527547.1_Missense_Mutation_p.L74P	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	74					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						TTTTGCAAGCAGGTATTTGCA	0.338																																						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.(220-222)cTg>cCg		cell division cycle 27							40	40	40					17																	45249313		2202	4300	6502	SO:0001583	missense	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.chr17:45249313A>G	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.221T>C	17.37:g.45249313A>G	ENSP00000066544:p.Leu74Pro		Somatic				CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.L74P|CDC27_ENST00000527547.1_Missense_Mutation_p.L74P|CDC27_ENST00000446365.2_Intron	p.L74P	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	WXS	Illumina GAIIx	Phase_I	P30260	CDC27_HUMAN			3	314	-			74					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.221T>C	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.621352	0.87460	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000527547;ENST00000526866	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.87509	0.6195	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89569	0.3812	10	0.87932	D	0	-19.8763	13.8831	0.63693	1.0:0.0:0.0:0.0	.	74;74;74	G5EA36;G3V1C4;P30260	.;.;CDC27_HUMAN	P	74	ENSP00000066544:L74P;ENSP00000434614:L74P;ENSP00000437339:L74P;ENSP00000432105:L74P	ENSP00000066544:L74P	L	-	2	0	CDC27	42604312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.057000	0.93889	2.173000	0.68751	0.482000	0.46254	CTG		0.338	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			4	29	0	0	0	1	0	4	29					G	45249313	A	G	45249313	3	3	48	1	0	0	0	0	1	0	0	0	3068	188	7	4	2339	4	CDC27	17	45249313	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	33095	45249313	35945897	3770	8238										
CDC27	996	broad.mit.edu	37	chr17	45258949	45258949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctgcataaaggcgttctgCgaggaaaaccgcatctcggt	11	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45258949C>T	ENST00000066544.3	-	2	175	c.82G>A	c.(82-84)Gca>Aca	p.A28T	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.A28T|CDC27_ENST00000446365.2_Missense_Mutation_p.R16H|CDC27_ENST00000527547.1_Missense_Mutation_p.A28T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	28					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)	p.A28T(1)		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						AGGCGTTCTGCGAGGAAAACC	0.348																																						ENST00000066544.3																			1	Substitution - Missense(1)	p.A28T(1)	large_intestine(1)	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.(82-84)Gca>Aca		cell division cycle 27							37	36	37					17																	45258949		2203	4300	6503	SO:0001583	missense	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.chr17:45258949C>T	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.82G>A	17.37:g.45258949C>T	ENSP00000066544:p.Ala28Thr		Somatic				CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.A28T|CDC27_ENST00000527547.1_Missense_Mutation_p.A28T|CDC27_ENST00000446365.2_Missense_Mutation_p.R16H	p.A28T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	WXS	Illumina GAIIx	Phase_I	P30260	CDC27_HUMAN			2	175	-			28					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.82G>A	CCDS11509.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.343094|5.343094	0.95783|0.95783	.|.	.|.	ENSG00000004897|ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000533415;ENST00000527547;ENST00000526866|ENST00000446365	T;T;T;T|T	0.80566|0.62639	-1.33;-1.39;-1.33;-0.27|0.01	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61022|0.61022	0.2314|0.2314	M|M	0.82193|0.82193	2.58|2.58	0.41596|0.41596	D|D	0.988827|0.988827	D;D;D|P	0.71674|0.40931	0.997;0.998;0.997|0.733	P;D;D|B	0.65874|0.28638	0.864;0.939;0.909|0.092	T|T	0.71391|0.71391	-0.4607|-0.4607	10|9	0.72032|0.54805	D|T	0.01|0.06	-22.578|-22.578	15.3144|15.3144	0.74062|0.74062	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	28;28;28|16	G5EA36;G3V1C4;P30260|B4DL80	.;.;CDC27_HUMAN|.	T|H	28|16	ENSP00000066544:A28T;ENSP00000434614:A28T;ENSP00000437339:A28T;ENSP00000432105:A28T|ENSP00000392802:R16H	ENSP00000066544:A28T|ENSP00000392802:R16H	A|R	-|-	1|2	0|0	CDC27|CDC27	42613948|42613948	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.924000|0.924000	0.55760|0.55760	7.210000|7.210000	0.77924|0.77924	2.484000|2.484000	0.83849|0.83849	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.348	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			5	12	0	0	0	1	0	5	12					T	45258949	C	T	45258949	3	4	48	1	0	0	0	0	1	0	0	0	3068	768	27	1	2482	1	CDC27	17	45258949	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	9636	45258949	35936261	3771	8239										
C17orf57	124989	broad.mit.edu	37	chr17	45425210	45425210	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaaatttttagtaaaattcGaagtggtaagatttatgtga	8	1	0	2	rs149684195	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45425210G>A	ENST00000331493.2	+	9	965	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	EFCAB13_ENST00000517484.1_Intron	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	185						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										AGTAAAATTCGAAGTGGTAAG	0.323																																						ENST00000331493.2																			0											c.(553-555)cGa>cAa		EF-hand calcium binding domain 13		G	,GLN/ARG	5,4397	9.9+/-24.2	0,5,2196	74	73	73		,554	0	0.6	17	dbSNP_134	73	0,8588		0,0,4294	no	intron,missense	C17orf57	NM_001195192.1,NM_152347.4	,43	0,5,6490	AA,AG,GG		0.0,0.1136,0.0385	,probably-damaging	,185/974	45425210	5,12985	2201	4294	6495	SO:0001583	missense	124989							g.chr17:45425210G>A	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.554G>A	17.37:g.45425210G>A	ENSP00000332111:p.Arg185Gln		Somatic				EFCAB13_ENST00000517484.1_Intron	p.R185Q	NM_152347.4	NP_689560.3	WXS	Illumina GAIIx	Phase_I					9	965	+								G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.554G>A	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177133	0.38413	0.001136	0.0	ENSG00000178852	ENST00000331493	T	0.44482	0.92	4.57	-0.0255	0.13935	EF-hand-like domain (1);	0.364949	0.15838	N	0.242166	T	0.30448	0.0765	L	0.47716	1.5	0.41833	D	0.990087	B	0.30021	0.265	B	0.25291	0.059	T	0.10474	-1.0628	10	0.87932	D	0	-6.4187	6.4291	0.21786	0.4975:0.0:0.5024:0.0	.	185	Q8IY85	CQ057_HUMAN	Q	185	ENSP00000332111:R185Q	ENSP00000332111:R185Q	R	+	2	0	C17orf57	42780209	0.297000	0.24408	0.605000	0.28930	0.993000	0.82548	0.324000	0.19610	-0.013000	0.14199	-0.142000	0.14014	CGA		0.323	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		15	16	0	0	0	1	0	15	16					A	45425210	G	A	45425210	3	1	48	1	0	0	0	0	1	0	0	0	1867	1058	37	1	576	1	C17orf57	17	45425210	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	166261	45425210	35770000	3772	8240										
C17orf57	124989	broad.mit.edu	37	chr17	45452066	45452066	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacttggcaaataagaaaatTtctgggtggggttggcagca	13	5	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45452066T>G	ENST00000331493.2	+	12	1517	c.1106T>G	c.(1105-1107)tTt>tGt	p.F369C	EFCAB13_ENST00000517484.1_Missense_Mutation_p.F273C	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	369						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										ATAAGAAAATTTCTGGGTGGG	0.318																																						ENST00000331493.2																			0											c.(1105-1107)tTt>tGt		EF-hand calcium binding domain 13							41	45	43					17																	45452066		2197	4298	6495	SO:0001583	missense	124989							g.chr17:45452066T>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.1106T>G	17.37:g.45452066T>G	ENSP00000332111:p.Phe369Cys		Somatic				EFCAB13_ENST00000517484.1_Missense_Mutation_p.F273C	p.F369C	NM_152347.4	NP_689560.3	WXS	Illumina GAIIx	Phase_I					12	1517	+								G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.1106T>G	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	T	12.43	1.935466	0.34189	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.64991	0.26;-0.13	3.65	-0.143	0.13444	.	1.126930	0.06678	N	0.767530	T	0.66896	0.2836	L	0.57536	1.79	0.09310	N	1	D;D;D	0.63046	0.992;0.979;0.979	P;P;P	0.54460	0.753;0.634;0.634	T	0.55554	-0.8123	9	.	.	.	-4.5271	7.2302	0.26038	0.5966:0.0:0.0:0.4034	.	321;369;273	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	C	369;273;321	ENSP00000332111:F369C;ENSP00000430048:F273C	.	F	+	2	0	C17orf57	42807065	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.126000	0.15769	-0.073000	0.12842	-0.481000	0.04817	TTT		0.318	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		20	38	0	0	0	1	0	20	38					G	45452066	T	G	45452066	3	3	48	1	0	0	0	0	1	0	0	0	1867	1841	64	4	1140	4	C17orf57	17	45452066	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	26856	45452066	35743144	3773	8241										
C17orf57	124989	broad.mit.edu	37	chr17	45455157	45455157	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctgtgaagctatcagtaaActtcaagaaaattacattgc	6	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45455157A>C	ENST00000331493.2	+	13	1809	c.1398A>C	c.(1396-1398)aaA>aaC	p.K466N	EFCAB13_ENST00000517484.1_Missense_Mutation_p.K370N	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	466						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										CTATCAGTAAACTTCAAGAAA	0.303																																						ENST00000331493.2																			0											c.(1396-1398)aaA>aaC		EF-hand calcium binding domain 13							52	56	54					17																	45455157		2203	4298	6501	SO:0001583	missense	124989							g.chr17:45455157A>C	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.1398A>C	17.37:g.45455157A>C	ENSP00000332111:p.Lys466Asn		Somatic				EFCAB13_ENST00000517484.1_Missense_Mutation_p.K370N	p.K466N	NM_152347.4	NP_689560.3	WXS	Illumina GAIIx	Phase_I					13	1809	+								G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.1398A>C	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.357802	0.41801	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.69175	-0.01;-0.38	3.8	1.47	0.22746	EF-hand-like domain (1);	0.935928	0.08848	N	0.884872	T	0.74405	0.3712	M	0.61703	1.905	0.09310	N	1	D;D;D	0.76494	0.999;0.991;0.982	D;P;P	0.66847	0.947;0.883;0.745	T	0.57997	-0.7714	10	0.66056	D	0.02	-10.527	3.7221	0.08460	0.6537:0.2247:0.1216:0.0	.	418;466;370	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	N	466;370;418	ENSP00000332111:K466N;ENSP00000430048:K370N	ENSP00000332111:K466N	K	+	3	2	C17orf57	42810156	0.266000	0.24112	0.005000	0.12908	0.009000	0.06853	0.022000	0.13511	0.150000	0.19136	0.377000	0.23210	AAA		0.303	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		16	30	0	0	0	1	0	16	30					C	45455157	A	C	45455157	3	2	48	1	0	0	0	0	1	0	0	0	1867	40	2	4	1436	4	C17orf57	17	45455157	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	3091	45455157	35740053	3774	8242										
PNPO	55163	broad.mit.edu	37	chr17	46022057	46022057	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttccgcttcttcactaacttCgagagtcgaaaaggaaaaga	8	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:46022057C>T	ENST00000225573.4	+	3	444	c.339C>T	c.(337-339)ttC>ttT	p.F113F	RP11-6N17.6_ENST00000582142.1_RNA|RP11-6N17.9_ENST00000582262.1_RNA|RP11-6N17.6_ENST00000580372.1_RNA|PNPO_ENST00000434554.2_Silent_p.F113F|PNPO_ENST00000534893.1_Silent_p.F18F|PNPO_ENST00000544840.1_Silent_p.F113F	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	113					pyridoxine biosynthetic process (GO:0008615)|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)	FMN binding (GO:0010181)|pyridoxamine-phosphate oxidase activity (GO:0004733)			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						TCACTAACTTCGAGAGTCGAA	0.507																																						ENST00000225573.4																			0				endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						c.(337-339)ttC>ttT		pyridoxamine 5'-phosphate oxidase	Pyridoxal Phosphate(DB00114)						151	148	149					17																	46022057		2203	4300	6503	SO:0001819	synonymous_variant	55163				pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity	g.chr17:46022057C>T	AF468030	CCDS11522.1	17q21.32	2008-11-27	2006-07-12			ENSG00000108439	1.4.3.5		30260	protein-coding gene	gene with protein product		603287	"pyridoxine 5'-phosphate oxidase"			9601034, 15182361	Standard	NM_018129		Approved	PDXPO	uc002imo.3	Q9NVS9		ENST00000225573.4:c.339C>T	17.37:g.46022057C>T			Somatic				PNPO_ENST00000544840.1_Silent_p.F113F|PNPO_ENST00000434554.2_Silent_p.F113F|PNPO_ENST00000534893.1_Silent_p.F18F	p.F113F	NM_018129.3	NP_060599.1	WXS	Illumina GAIIx	Phase_I	Q9NVS9	PNPO_HUMAN			3	444	+			113					B4E0V0|B4E152|B4E1D7|D3DTT9	Silent	SNP	ENST00000225573.4	37	c.339C>T	CCDS11522.1																																																																																				0.507	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441407.1	NM_018129		50	92	0	0	0	1	0	50	92					T	46022057	C	T	46022057	2	4	48	1	0	0	0	0	0	0	0	1	12181	883	31	1		1	PNPO	17	46022057	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	566900	46022057	35173153	3775	8243										
CALCOCO2	10241	broad.mit.edu	37	chr17	46933497	46933497	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagactgagtgagaacgaaaTtatatgtaatgctctgcaga	10	5	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:46933497T>G	ENST00000258947.3	+	10	1057	c.956T>G	c.(955-957)aTt>aGt	p.I319S	CALCOCO2_ENST00000448105.2_Missense_Mutation_p.I343S|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.I247S|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.I340S|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.I277S	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	319					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						GAGAACGAAATTATATGTAAT	0.378																																						ENST00000258947.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(955-957)aTt>aGt		calcium binding and coiled-coil domain 2							60	63	62					17																	46933497		2203	4300	6503	SO:0001583	missense	10241				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	g.chr17:46933497T>G	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.956T>G	17.37:g.46933497T>G	ENSP00000258947:p.Ile319Ser		Somatic				CALCOCO2_ENST00000509507.1_Missense_Mutation_p.I340S|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.I247S|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.I343S|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.I277S	p.I319S	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	WXS	Illumina GAIIx	Phase_I	Q13137	CACO2_HUMAN			10	1057	+			319					B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Missense_Mutation	SNP	ENST00000258947.3	37	c.956T>G	CCDS11538.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.749|0.749	-0.773473|-0.773473	0.02951|0.02951	.|.	.|.	ENSG00000136436|ENSG00000136436	ENST00000258947;ENST00000509507;ENST00000448105;ENST00000513119;ENST00000416445;ENST00000508679|ENST00000507306	T;T;T;T;T;T|.	0.19806|.	2.61;2.12;2.61;2.23;2.71;2.52|.	6.09|6.09	2.44|2.44	0.29823|0.29823	.|.	1.077730|.	0.07134|.	N|.	0.846099|.	T|T	0.40546|0.40546	0.1121|0.1121	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.24043|.	0.096;0.067;0.039;0.067|.	B;B;B;B|.	0.27380|.	0.061;0.049;0.049;0.079|.	T|T	0.30679|0.30679	-0.9970|-0.9970	10|5	0.09338|.	T|.	0.73|.	0.3274|0.3274	4.4243|4.4243	0.11495|0.11495	0.3031:0.0816:0.0:0.6153|0.3031:0.0816:0.0:0.6153	.|.	277;343;340;319|.	E7ETP5;B4DP36;E9PBE5;Q13137|.	.;.;.;CACO2_HUMAN|.	S|K	319;340;343;247;277;247|32	ENSP00000258947:I319S;ENSP00000424352:I340S;ENSP00000398523:I343S;ENSP00000425090:I247S;ENSP00000406974:I277S;ENSP00000423437:I247S|.	ENSP00000258947:I319S|.	I|N	+|+	2|3	0|2	CALCOCO2|CALCOCO2	44288496|44288496	0.005000|0.005000	0.15991|0.15991	0.001000|0.001000	0.08648|0.08648	0.006000|0.006000	0.05464|0.05464	0.439000|0.439000	0.21575|0.21575	0.497000|0.497000	0.27926|0.27926	-0.274000|-0.274000	0.10170|0.10170	ATT|AAT		0.378	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831		18	33	0	0	0	1	0	18	33					G	46933497	T	G	46933497	3	3	48	1	0	0	0	0	1	0	0	0	2580	1493	52	4	990	4	CALCOCO2	17	46933497	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	911440	46933497	34261713	3776	8244										
IGF2BP1	10642	broad.mit.edu	37	chr17	47075230	47075230	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcaaatccggctacgccttCgtggactgcccggacgagca	12	14	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:47075230C>A	ENST00000290341.3	+	1	457	c.123C>A	c.(121-123)ttC>ttA	p.F41L	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.F41L|IGF2BP1_ENST00000515586.1_3'UTR|RP11-501C14.5_ENST00000505903.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	41	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						GCTACGCCTTCGTGGACTGCC	0.587																																					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.(121-123)ttC>ttA		insulin-like growth factor 2 mRNA binding protein 1							107	107	107					17																	47075230		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.chr17:47075230C>A	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.123C>A	17.37:g.47075230C>A	ENSP00000290341:p.Phe41Leu		Somatic				IGF2BP1_ENST00000431824.2_Missense_Mutation_p.F41L|IGF2BP1_ENST00000515586.1_3'UTR	p.F41L	NM_006546.3	NP_006537.3	WXS	Illumina GAIIx	Phase_I	Q9NZI8	IF2B1_HUMAN			1	457	+			41			RRM 1.		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.123C>A	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716583	0.89205	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.13307	2.6;2.6	4.87	2.79	0.32731	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	M	0.92880	3.355	0.28727	N	0.902695	P;D	0.61080	0.778;0.989	P;P	0.61658	0.447;0.892	T	0.34675	-0.9819	10	0.72032	D	0.01	-22.7509	2.5953	0.04853	0.2378:0.5019:0.0:0.2603	.	41;41	C9JT33;Q9NZI8	.;IF2B1_HUMAN	L	41	ENSP00000290341:F41L;ENSP00000389135:F41L	ENSP00000290341:F41L	F	+	3	2	IGF2BP1	44430229	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.084000	0.30828	1.114000	0.41781	0.650000	0.86243	TTC		0.587	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		17	133	1	0	5.03518e-11	1	6.23768e-11	17	133					A	47075230	C	A	47075230	3	1	48	1	0	0	0	0	1	0	0	0	7582	883	31	2	125	2	IGF2BP1	17	47075230	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	141733	47075230	34119980	3777	8245										
ZNF652	22834	broad.mit.edu	37	chr17	47394794	47394794	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctctgtgtcatcagaattCtcccggtcttccttaacagc	6	14	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:47394794C>A	ENST00000362063.2	-	2	612	c.294G>T	c.(292-294)gaG>gaT	p.E98D	ZNF652_ENST00000430262.2_Missense_Mutation_p.E98D	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	98	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)			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)			CATCAGAATTCTCCCGGTCTT	0.428																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(292-294)gaG>gaT		zinc finger protein 652							160	140	146					17																	47394794		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47394794C>A	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.294G>T	17.37:g.47394794C>A	ENSP00000354686:p.Glu98Asp		Somatic				ZNF652_ENST00000430262.2_Missense_Mutation_p.E98D	p.E98D	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	612	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		98			Glu-rich.		A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.294G>T	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965303	0.34659	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	D;D	0.99070	-5.39;-5.39	5.74	4.77	0.60923	.	0.275715	0.39759	N	0.001272	D	0.95233	0.8454	N	0.24115	0.695	0.34542	D	0.7104	P	0.38767	0.646	B	0.33339	0.162	D	0.96246	0.9179	10	0.14252	T	0.57	-18.0215	9.3254	0.37990	0.0:0.7805:0.0:0.2195	.	98	Q9Y2D9	ZN652_HUMAN	D	98	ENSP00000354686:E98D;ENSP00000416305:E98D	ENSP00000354686:E98D	E	-	3	2	ZNF652	44749793	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.335000	0.19806	1.436000	0.47453	0.655000	0.94253	GAG		0.428	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		41	63	1	0	9.85913e-13	1	1.24945e-12	41	63					A	47394794	C	A	47394794	3	1	48	1	0	0	0	0	1	0	0	0	18080	912	32	2	1546	2	ZNF652	17	47394794	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	319564	47394794	33800416	3778	8246										
DLX3	1747	broad.mit.edu	37	chr17	48068973	48068973	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgctgtaagtggggtccacTcaggttctgtgcgtgatacc	13	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:48068973T>C	ENST00000434704.2	-	3	997	c.772A>G	c.(772-774)Agt>Ggt	p.S258G	DLX3_ENST00000512495.2_Missense_Mutation_p.S138G	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	258					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						TGGGGTCCACTCAGGTTCTGT	0.682																																						ENST00000434704.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(772-774)Agt>Ggt		distal-less homeobox 3							43	38	40					17																	48068973		2203	4300	6503	SO:0001583	missense	1747					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48068973T>C		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"Homeoboxes / ANTP class : NKL subclass"	2916	protein-coding gene	gene with protein product		600525	"distal-less homeo box 3"			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.772A>G	17.37:g.48068973T>C	ENSP00000389870:p.Ser258Gly		Somatic				DLX3_ENST00000512495.2_Missense_Mutation_p.S138G	p.S258G	NM_005220.2	NP_005211.1	WXS	Illumina GAIIx	Phase_I	O60479	DLX3_HUMAN			3	997	-			258					B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	c.772A>G	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	T	13.02	2.112349	0.37242	.	.	ENSG00000064195	ENST00000434704;ENST00000512495	D;D	0.91407	-2.76;-2.84	5.29	5.29	0.74685	.	0.133513	0.56097	D	0.000034	D	0.86138	0.5861	L	0.54323	1.7	0.36405	D	0.86336	B	0.25667	0.131	B	0.19666	0.026	D	0.83997	0.0341	10	0.24483	T	0.36	-10.4164	9.4734	0.38856	0.0:0.0:0.1782:0.8218	.	258	O60479	DLX3_HUMAN	G	258;138	ENSP00000389870:S258G;ENSP00000449976:S138G	ENSP00000389870:S258G	S	-	1	0	DLX3	45423972	0.702000	0.27816	1.000000	0.80357	0.996000	0.88848	0.890000	0.28295	2.023000	0.59567	0.454000	0.30748	AGT		0.682	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			17	25	0	0	0	1	0	17	25					C	48068973	T	C	48068973	3	2	48	1	0	0	0	0	1	0	0	0	4574	1551	54	4	95	4	DLX3	17	48068973	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	674179	48068973	33126237	3779	8247										
MYCBPAP	84073	broad.mit.edu	37	chr17	48606124	48606124	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgggaaggaggagcggaaaGgagcagcccaggaaaagaag	18	6	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:48606124G>T	ENST00000323776.5	+	17	2767	c.2605G>T	c.(2605-2607)Gga>Tga	p.G869*	MYCBPAP_ENST00000436259.2_Nonsense_Mutation_p.G832*	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)			GGAGCGGAAAGGAGCAGCCCA	0.527																																						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.(2605-2607)Gga>Tga		MYCBP associated protein							61	63	63					17																	48606124		2203	4300	6503	SO:0001587	stop_gained	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48606124G>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.2605G>T	17.37:g.48606124G>T	ENSP00000323184:p.Gly869*		Somatic				MYCBPAP_ENST00000436259.2_Nonsense_Mutation_p.G832*	p.G869*	NM_032133.4	NP_115509.4	WXS	Illumina GAIIx	Phase_I	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		17	2767	+	Breast(11;1.23e-18)		832						Nonsense_Mutation	SNP	ENST00000323776.5	37	c.2605G>T	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	G	38	7.052068	0.98029	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	.	.	.	5.54	4.5	0.54988	.	0.682462	0.13900	N	0.354995	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-19.0172	10.878	0.46923	0.0813:0.1461:0.7726:0.0	.	.	.	.	X	869;832	.	ENSP00000323184:G869X	G	+	1	0	MYCBPAP	45961123	0.977000	0.34250	0.050000	0.19076	0.673000	0.39480	1.795000	0.38784	2.606000	0.88127	0.655000	0.94253	GGA		0.527	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		15	25	1	0	1.15088e-07	1	1.32965e-07	15	25					T	48606124	G	T	48606124	4	4	48	1	0	0	0	0	0	1	0	0	10028	1001	35	5	2671	5	MYCBPAP	17	48606124	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	537151	48606124	32589086	3780	8248										
SPATA20	64847	broad.mit.edu	37	chr17	48625670	48625670	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcctcccgggacaaggaccGaagtgcgacggtcagtagtt	13	12	1	0	rs370629404		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:48625670G>A	ENST00000356488.4	+	2	187	c.104G>A	c.(103-105)cGa>cAa	p.R35Q	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_5'UTR|SPATA20_ENST00000006658.6_Missense_Mutation_p.R51Q	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	35					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)			GACAAGGACCGAAGTGCGACG	0.647																																						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.(151-153)cGa>cAa		spermatogenesis associated 20							97	88	91					17																	48625670		2203	4299	6502	SO:0001583	missense	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48625670G>A		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.104G>A	17.37:g.48625670G>A	ENSP00000348878:p.Arg35Gln		Somatic				SPATA20_ENST00000393244.3_5'UTR|SPATA20_ENST00000356488.4_Missense_Mutation_p.R35Q|SPATA20_ENST00000511937.1_3'UTR	p.R51Q	NM_022827.3	NP_073738.2	WXS	Illumina GAIIx	Phase_I	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		3	272	+	Breast(11;1.23e-18)		35					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	c.152G>A	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890814	0.91889	.	.	ENSG00000006282	ENST00000006658;ENST00000356488	T;T	0.22945	1.93;1.93	4.69	4.69	0.59074	.	0.100181	0.37955	N	0.001870	T	0.35219	0.0924	N	0.19112	0.55	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	P;D;D	0.75484	0.847;0.953;0.986	T	0.18147	-1.0346	10	0.56958	D	0.05	-12.8715	14.4838	0.67603	0.0:0.0:1.0:0.0	.	35;35;51	B4DZC5;Q8TB22;Q8TB22-2	.;SPT20_HUMAN;.	Q	51;35	ENSP00000006658:R51Q;ENSP00000348878:R35Q	ENSP00000006658:R51Q	R	+	2	0	SPATA20	45980669	0.988000	0.35896	0.959000	0.39883	0.986000	0.74619	2.253000	0.43205	2.434000	0.82447	0.561000	0.74099	CGA		0.647	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		15	23	0	0	0	1	0	15	23					A	48625670	G	A	48625670	3	1	48	1	0	0	0	0	1	0	0	0	15021	1058	37	1	162	1	SPATA20	17	48625670	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	19546	48625670	32569540	3781	8249										
CA10	56934	broad.mit.edu	37	chr17	49731017	49731017	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttacttttataaatatagaAactaccaccaatccatttgg	3	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:49731017A>C	ENST00000285273.4	-	6	1657	c.546T>G	c.(544-546)gtT>gtG	p.V182V	CA10_ENST00000451037.2_Silent_p.V182V|CA10_ENST00000442502.2_Silent_p.V182V|CA10_ENST00000340813.6_Silent_p.V188V|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000570565.1_Silent_p.V107V	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	182					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TAAATATAGAAACTACCACCA	0.403																																						ENST00000451037.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(544-546)gtT>gtG		carbonic anhydrase X																																				SO:0001819	synonymous_variant	56934				brain development			g.chr17:49731017A>C	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"Carbonic anhydrases"	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.546T>G	17.37:g.49731017A>C			Somatic				CA10_ENST00000285273.4_Silent_p.V182V|CA10_ENST00000442502.2_Silent_p.V182V|CA10_ENST00000340813.6_Silent_p.V188V|CA10_ENST00000570565.1_Silent_p.V107V|CA10_ENST00000571918.1_5'UTR	p.V182V	NM_020178.4	NP_064563.1	WXS	Illumina GAIIx	Phase_I	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		5	1486	-			182					B2R7J0|B4DGL6	Silent	SNP	ENST00000285273.4	37	c.546T>G	CCDS32684.1																																																																																				0.403	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		11	13	0	0	0	1	0	11	13					C	49731017	A	C	49731017	2	2	48	1	0	0	0	0	0	0	0	1	2513	1	1	4		4	CA10	17	49731017	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1105347	49731017	31464193	3782	8250										
TRIM25	7706	broad.mit.edu	37	chr17	54978869	54978869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctggtggatgccttttatcAgcttgtggttcagttccacc	10	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:54978869A>G	ENST00000316881.4	-	4	1047	c.998T>C	c.(997-999)cTg>cCg	p.L333P	TRIM25_ENST00000537230.1_Missense_Mutation_p.L333P	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	333	Interaction with influenza A virus NS1.				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)			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)					GCCTTTTATCAGCTTGTGGTT	0.542																																						ENST00000316881.4																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(997-999)cTg>cCg		tripartite motif containing 25							431	387	401					17																	54978869		2203	4300	6503	SO:0001583	missense	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.chr17:54978869A>G	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.998T>C	17.37:g.54978869A>G	ENSP00000323889:p.Leu333Pro		Somatic				TRIM25_ENST00000537230.1_Missense_Mutation_p.L333P	p.L333P	NM_005082.4	NP_005073.2	WXS	Illumina GAIIx	Phase_I	Q14258	TRI25_HUMAN			4	1047	-	Breast(9;6.15e-08)		333			Interaction with influenza A virus NS1.			Missense_Mutation	SNP	ENST00000316881.4	37	c.998T>C	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.099016	0.56183	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.70045	-0.45;-0.45	5.53	5.53	0.82687	.	0.142322	0.32608	N	0.005877	T	0.76652	0.4017	M	0.61703	1.905	0.80722	D	1	D	0.64830	0.994	P	0.60682	0.878	T	0.77416	-0.2596	10	0.48119	T	0.1	.	14.1833	0.65588	1.0:0.0:0.0:0.0	.	333	Q14258	TRI25_HUMAN	P	333	ENSP00000323889:L333P;ENSP00000445961:L333P	ENSP00000323889:L333P	L	-	2	0	TRIM25	52333868	0.999000	0.42202	0.960000	0.40013	0.048000	0.14542	5.492000	0.66893	2.231000	0.72958	0.454000	0.30748	CTG		0.542	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		89	232	0	0	0	1	0	89	232					G	54978869	A	G	54978869	3	3	48	1	0	0	0	0	1	0	0	0	16514	188	7	4	918	4	TRIM25	17	54978869	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	5247852	54978869	26216341	3783	8251										
MSI2	124540	broad.mit.edu	37	chr17	55478757	55478757	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagatggtcacaagaacaaaGaaaatatttgtaggcgggtt	11	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:55478757G>T	ENST00000284073.2	+	6	539	c.330G>T	c.(328-330)aaG>aaT	p.K110N	MSI2_ENST00000579180.1_Missense_Mutation_p.K6N|MSI2_ENST00000416426.2_Missense_Mutation_p.K88N|MSI2_ENST00000442934.2_Missense_Mutation_p.K49N|MSI2_ENST00000322684.3_Missense_Mutation_p.K106N	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	110	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)	p.K106K(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		CAAGAACAAAGAAAATATTTG	0.448			T	HOXA9	CML																																	ENST00000284073.2				Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		1	Substitution - coding silent(1)	p.K106K(1)	central_nervous_system(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7						c.(328-330)aaG>aaT		musashi RNA-binding protein 2							110	107	108					17																	55478757		2203	4300	6503	SO:0001583	missense	0					cytoplasm	nucleotide binding|RNA binding	g.chr17:55478757G>T	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	18585	protein-coding gene	gene with protein product		607897	"musashi homolog 2 (Drosophila)"			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.330G>T	17.37:g.55478757G>T	ENSP00000284073:p.Lys110Asn		Somatic				MSI2_ENST00000416426.2_Missense_Mutation_p.K88N|MSI2_ENST00000579180.1_Missense_Mutation_p.K6N|MSI2_ENST00000322684.3_Missense_Mutation_p.K106N|MSI2_ENST00000442934.2_Missense_Mutation_p.K49N	p.K110N	NM_138962.2	NP_620412.1	WXS	Illumina GAIIx	Phase_I	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	6	539	+	Breast(9;1.78e-08)		110			RRM 1.|RRM 2.		Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	37	c.330G>T	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811777	0.90707	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684;ENST00000442934	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	5.5	5.5	0.81552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.64402	D	0.000001	D	0.95010	0.8385	L	0.50333	1.59	0.80722	D	1	D;D;D	0.63880	0.993;0.989;0.991	D;D;P	0.72338	0.977;0.931;0.855	D	0.95122	0.8247	10	0.87932	D	0	.	19.7578	0.96301	0.0:0.0:1.0:0.0	.	88;106;110	B4DHE8;Q96DH6-2;Q96DH6	.;.;MSI2H_HUMAN	N	88;110;106;49	ENSP00000414671:K88N;ENSP00000284073:K110N;ENSP00000313616:K106N;ENSP00000392607:K49N	ENSP00000284073:K110N	K	+	3	2	MSI2	52833756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.374000	0.97172	2.748000	0.94277	0.655000	0.94253	AAG		0.448	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			29	49	1	0	9.80776e-20	1	1.33792e-19	29	49					T	55478757	G	T	55478757	3	4	48	1	0	0	0	0	1	0	0	0	9885	933	33	2	402	2	MSI2	17	55478757	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	499888	55478757	25716453	3784	8252										
SFRS1	6426	broad.mit.edu	37	chr17	56084470	56084470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcaatcgttgttccctgcgGggccacgaatcacaccacct	10	15	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56084470G>A	ENST00000258962.4	-	1	237	c.29C>T	c.(28-30)cCc>cTc	p.P10L	SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000584773.1_Missense_Mutation_p.P10L|SRSF1_ENST00000582730.2_Missense_Mutation_p.P10L|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000585096.1_Missense_Mutation_p.P10L	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	10					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						GTTCCCTGCGGGGCCACGAAT	0.597																																						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.(28-30)cCc>cTc		serine/arginine-rich splicing factor 1							171	129	143					17																	56084470		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.chr17:56084470G>A		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.29C>T	17.37:g.56084470G>A	ENSP00000258962:p.Pro10Leu		Somatic				SRSF1_ENST00000585096.1_Missense_Mutation_p.P10L|SRSF1_ENST00000584773.1_Missense_Mutation_p.P10L|SRSF1_ENST00000258962.4_Missense_Mutation_p.P10L	p.P10L	NM_001078166.1	NP_001071634.1	WXS	Illumina GAIIx	Phase_I	Q07955	SRSF1_HUMAN			1	152	-			10					B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	37	c.29C>T	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291704	0.59976	.	.	ENSG00000136450	ENST00000258962	T	0.19105	2.17	5.98	5.98	0.97165	.	0.061019	0.64402	D	0.000003	T	0.41119	0.1145	L	0.57536	1.79	0.80722	D	1	P;D	0.76494	0.947;0.999	P;P	0.58520	0.466;0.84	T	0.03202	-1.1061	10	0.52906	T	0.07	.	19.2211	0.93797	0.0:0.0:1.0:0.0	.	42;10	Q59FA2;Q07955	.;SRSF1_HUMAN	L	10	ENSP00000258962:P10L	ENSP00000258962:P10L	P	-	2	0	SRSF1	53439469	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	8.801000	0.91905	2.838000	0.97847	0.563000	0.77884	CCC		0.597	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		7	80	0	0	0	1	0	7	80					A	56084470	G	A	56084470	3	1	48	1	0	0	0	0	1	0	0	0	14180	1232	43	3	787	3	SFRS1	17	56084470	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	605713	56084470	25110740	3785	8253										
SEPT4	5414	broad.mit.edu	37	chr17	56598957	56598957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcatcctcatcagagtcacaGtctgggaattgatagatctt	8	9	6	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56598957G>T	ENST00000317268.3	-	8	1142	c.966C>A	c.(964-966)gaC>gaA	p.D322E	SEPT4_ENST00000579371.1_Missense_Mutation_p.D223E|SEPT4_ENST00000583114.1_Missense_Mutation_p.D175E|SEPT4_ENST00000393086.1_Missense_Mutation_p.D303E|SEPT4_ENST00000580809.1_3'UTR|SEPT4_ENST00000580844.1_Missense_Mutation_p.D223E|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000317256.6_Missense_Mutation_p.D303E|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000457347.2_Missense_Mutation_p.D337E|SEPT4_ENST00000412945.3_Missense_Mutation_p.D314E	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	322	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGAGTCACAGTCTGGGAATT	0.493																																						ENST00000457347.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1009-1011)gaC>gaA		septin 4							134	130	131					17																	56598957		2203	4300	6503	SO:0001583	missense	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56598957G>T	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"Septins"	9165	protein-coding gene	gene with protein product	"bradeoin", "septin-M"	603696	"peanut-like 2 (Drosophila)"	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.966C>A	17.37:g.56598957G>T	ENSP00000321674:p.Asp322Glu		Somatic				SEPT4_ENST00000583114.1_Missense_Mutation_p.D175E|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580809.1_3'UTR|SEPT4_ENST00000579371.1_Missense_Mutation_p.D223E|SEPT4_ENST00000580844.1_Missense_Mutation_p.D223E|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000412945.3_Missense_Mutation_p.D314E|SEPT4_ENST00000393086.1_Missense_Mutation_p.D303E|SEPT4_ENST00000317256.6_Missense_Mutation_p.D303E|SEPT4_ENST00000317268.3_Missense_Mutation_p.D322E	p.D337E	NM_001256782.1	NP_001243711.1	WXS	Illumina GAIIx	Phase_I	O43236	SEPT4_HUMAN			9	1155	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		322					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	c.1011C>A	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	G	8.326	0.825437	0.16749	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.23	1.53	0.23141	.	0.109621	0.64402	D	0.000010	T	0.19846	0.0477	N	0.05487	-0.04	0.37978	D	0.933496	B;B;B;B;B	0.17667	0.002;0.023;0.002;0.0;0.003	B;B;B;B;B	0.18871	0.013;0.022;0.005;0.007;0.023	T	0.09164	-1.0687	10	0.10111	T	0.7	.	4.6132	0.12413	0.2682:0.0:0.5757:0.1561	.	314;337;303;175;322	O43236-3;O43236-4;O43236-2;O43236-5;O43236	.;.;.;.;SEPT4_HUMAN	E	314;336;303;322;303	ENSP00000414779:D314E;ENSP00000321071:D303E;ENSP00000321674:D322E;ENSP00000376801:D303E	ENSP00000321071:D303E	D	-	3	2	SEPT4	53953956	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.135000	0.31454	0.043000	0.15746	0.455000	0.32223	GAC		0.493	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		21	48	1	0	5.26018e-13	1	6.70247e-13	21	48					T	56598957	G	T	56598957	3	4	48	1	0	0	0	0	1	0	0	0	14081	1020	36	5	490	5	SEPT4	17	56598957	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	514487	56598957	24596253	3786	8254										
SEPT4	5414	broad.mit.edu	37	chr17	56604289	56604289	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttcctgagaaatccttcacGaacttgctcagttctccatc	5	13	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56604289G>A	ENST00000317268.3	-	2	287	c.111C>T	c.(109-111)ttC>ttT	p.F37F	SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000583114.1_5'UTR|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000393086.1_Silent_p.F18F|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000580844.1_Intron|SEPT4_ENST00000580791.1_5'UTR|SEPT4_ENST00000426861.1_Silent_p.F18F|SEPT4_ENST00000317256.6_Silent_p.F18F|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000457347.2_Silent_p.F52F|SEPT4_ENST00000412945.3_Silent_p.F29F	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	37					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.F37F(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATCCTTCACGAACTTGCTCA	0.617																																						ENST00000426861.1																			1	Substitution - coding silent(1)	p.F37F(1)	stomach(1)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(52-54)ttC>ttT		septin 4							79	86	83					17																	56604289		2203	4300	6503	SO:0001819	synonymous_variant	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56604289G>A	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"Septins"	9165	protein-coding gene	gene with protein product	"bradeoin", "septin-M"	603696	"peanut-like 2 (Drosophila)"	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.111C>T	17.37:g.56604289G>A			Somatic				SEPT4_ENST00000583114.1_5'UTR|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000580791.1_5'UTR|SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000580844.1_Intron|SEPT4_ENST00000457347.2_Silent_p.F52F|SEPT4_ENST00000412945.3_Silent_p.F29F|SEPT4_ENST00000393086.1_Silent_p.F18F|SEPT4_ENST00000317256.6_Silent_p.F18F|SEPT4_ENST00000317268.3_Silent_p.F37F	p.F18F	NM_080415.2	NP_536340.1	WXS	Illumina GAIIx	Phase_I	O43236	SEPT4_HUMAN			2	140	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		37					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Silent	SNP	ENST00000317268.3	37	c.54C>T	CCDS11610.1																																																																																				0.617	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		41	68	0	0	0	1	0	41	68					A	56604289	G	A	56604289	2	1	48	1	0	0	0	0	0	0	0	1	14081	1049	37	1		1	SEPT4	17	56604289	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5332	56604289	24590921	3787	8255										
C17orf47	284083	broad.mit.edu	37	chr17	56620179	56620179	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttaaaaccggacaataaaaGatctagggaaggagagcact	10	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56620179G>T	ENST00000321691.3	-	1	1550	c.1369C>A	c.(1369-1371)Ctt>Att	p.L457I	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000457347.2_5'Flank|SEPT4_ENST00000412945.3_5'Flank	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	457										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)					GACAATAAAAGATCTAGGGAA	0.478																																						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.(1369-1371)Ctt>Att		chromosome 17 open reading frame 47							145	159	154					17																	56620179		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56620179G>T		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.1369C>A	17.37:g.56620179G>T	ENSP00000354874:p.Leu457Ile		Somatic				RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	p.L457I	NM_001038704.2	NP_001033793.2	WXS	Illumina GAIIx	Phase_I	Q8NEP4	CQ047_HUMAN			1	1550	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		457					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.1369C>A	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	G	3.770	-0.047798	0.07407	.	.	ENSG00000181013	ENST00000321691	T	0.30981	1.51	5.62	2.3	0.28687	.	0.672275	0.14331	N	0.326332	T	0.16385	0.0394	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19712	-1.0297	10	0.62326	D	0.03	-0.2027	5.1241	0.14875	0.1034:0.0:0.537:0.3596	.	457	Q8NEP4	CQ047_HUMAN	I	457	ENSP00000354874:L457I	ENSP00000354874:L457I	L	-	1	0	C17orf47	53975178	0.179000	0.23135	0.029000	0.17559	0.027000	0.11550	1.065000	0.30592	0.202000	0.20498	0.561000	0.74099	CTT		0.478	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		85	157	1	0	3.73172e-31	1	5.33794e-31	85	157					T	56620179	G	T	56620179	3	4	48	1	0	0	0	0	1	0	0	0	1860	942	33	2	351	2	C17orf47	17	56620179	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	15890	56620179	24575031	3788	8256										
TEX14	56155	broad.mit.edu	37	chr17	56682459	56682459	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgcgtaggaaggggcactcGagtcaggtccctctgtacac	13	12	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56682459G>A	ENST00000240361.8	-	11	1319	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	TEX14_ENST00000349033.5_Nonsense_Mutation_p.R406*|TEX14_ENST00000389934.3_Nonsense_Mutation_p.R406*			Q8IWB6	TEX14_HUMAN	testis expressed 14	412	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)					AGGGGCACTCGAGTCAGGTCC	0.478																																						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.(1216-1218)Cga>Tga		testis expressed 14							115	92	100					17																	56682459		2203	4300	6503	SO:0001587	stop_gained	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56682459G>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.1234C>T	17.37:g.56682459G>A	ENSP00000240361:p.Arg412*		Somatic				TEX14_ENST00000240361.8_Nonsense_Mutation_p.R412*|TEX14_ENST00000349033.5_Nonsense_Mutation_p.R406*	p.R406*	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	WXS	Illumina GAIIx	Phase_I	Q8IWB6	TEX14_HUMAN			11	1333	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		412			Protein kinase.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Nonsense_Mutation	SNP	ENST00000240361.8	37	c.1216C>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	37	6.088549	0.97271	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	.	.	.	5.5	3.34	0.38264	.	0.463445	0.20633	N	0.088550	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2075	14.2336	0.65911	0.0:0.2842:0.7158:0.0	.	.	.	.	X	412;406;406	.	ENSP00000240361:R412X	R	-	1	2	TEX14	54037458	0.997000	0.39634	0.994000	0.49952	0.918000	0.54935	2.968000	0.49224	1.299000	0.44798	0.555000	0.69702	CGA		0.478	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			21	38	0	0	0	1	0	21	38					A	56682459	G	A	56682459	4	1	48	1	0	0	0	0	0	1	0	0	15793	1066	37	1	3351	1	TEX14	17	56682459	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	62280	56682459	24512751	3789	8257										
TRIM37	4591	broad.mit.edu	37	chr17	57106003	57106003	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggccatttgagttttgagtCtttttagcatctttaaatca	7	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57106003C>A	ENST00000262294.7	-	19	2289	c.2030G>T	c.(2029-2031)aGa>aTa	p.R677I	TRIM37_ENST00000393066.3_Missense_Mutation_p.R677I|TRIM37_ENST00000393065.2_Missense_Mutation_p.R643I|TRIM37_ENST00000376149.3_Missense_Mutation_p.R555I	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	677					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)					AGTTTTGAGTCTTTTTAGCAT	0.393									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.(1663-1665)aGa>aTa		tripartite motif containing 37							115	112	113					17																	57106003		2203	4300	6503	SO:0001583	missense	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57106003C>A	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.2030G>T	17.37:g.57106003C>A	ENSP00000262294:p.Arg677Ile		Somatic				TRIM37_ENST00000393065.2_Missense_Mutation_p.R643I|TRIM37_ENST00000393066.3_Missense_Mutation_p.R677I|TRIM37_ENST00000262294.7_Missense_Mutation_p.R677I	p.R555I			WXS	Illumina GAIIx	Phase_I	O94972	TRI37_HUMAN			19	2473	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		677					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.1664G>T	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729341	0.89390	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.996;0.991	T	0.46190	-0.9209	10	0.87932	D	0	-8.9775	19.9533	0.97211	0.0:1.0:0.0:0.0	.	643;555;677	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	I	677;677;555;643	ENSP00000376785:R677I;ENSP00000262294:R677I;ENSP00000365319:R555I;ENSP00000376784:R643I	ENSP00000262294:R677I	R	-	2	0	TRIM37	54460785	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.276000	0.72601	2.725000	0.93324	0.585000	0.79938	AGA		0.393	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		22	33	1	0	3.62473e-10	1	4.42315e-10	22	33					A	57106003	C	A	57106003	3	1	48	1	0	0	0	0	1	0	0	0	16526	913	32	2	896	2	TRIM37	17	57106003	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	423544	57106003	24089207	3790	8258										
SKA2	348235	broad.mit.edu	37	chr17	57196697	57196697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacctccaggtctgtttgctTctgtagtttttgtatcatat	7	8	3	0	rs199733352		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57196697T>C	ENST00000330137.7	-	3	385	c.280A>G	c.(280-282)Aag>Gag	p.K94E	SKA2_ENST00000581068.1_Intron|SKA2_ENST00000578105.1_Missense_Mutation_p.K65E|SKA2_ENST00000437036.2_Intron|AC099850.1_ENST00000451775.1_RNA|SKA2_ENST00000580541.1_Intron|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000583380.1_Missense_Mutation_p.K94E	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	94					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			lung(4)	4						TCTGTTTGCTTCTGTAGTTTT	0.378																																						ENST00000330137.7																			0				lung(4)	4						c.(280-282)Aag>Gag		spindle and kinetochore associated complex subunit 2							137	122	127					17																	57196697		1850	4093	5943	SO:0001583	missense	348235				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr17:57196697T>C	BC017873	CCDS45747.1, CCDS45748.1	17q23.2	2013-01-17	2009-08-19	2009-08-19	ENSG00000182628	ENSG00000182628			28006	protein-coding gene	gene with protein product			"family with sequence similarity 33, member A"	FAM33A		17093495, 19289083, 18583474	Standard	NM_182620		Approved	FLJ12758	uc010dde.1	Q8WVK7		ENST00000330137.7:c.280A>G	17.37:g.57196697T>C	ENSP00000333433:p.Lys94Glu		Somatic				SKA2_ENST00000578105.1_Missense_Mutation_p.K65E|SKA2_ENST00000580541.1_Intron|SKA2_ENST00000437036.2_Intron|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000583380.1_Missense_Mutation_p.K94E	p.K94E	NM_182620.3	NP_872426.1	WXS	Illumina GAIIx	Phase_I	Q8WVK7	SKA2_HUMAN			3	385	-			94					A6NIL3|B3KPL3|E9PCB8	Missense_Mutation	SNP	ENST00000330137.7	37	c.280A>G	CCDS45747.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	11.78	1.742118	0.30865	.	.	ENSG00000182628	ENST00000330137	T	0.27720	1.65	5.05	3.97	0.46021	.	0.352028	0.33553	N	0.004796	T	0.40670	0.1126	M	0.63428	1.95	0.29806	N	0.832015	D	0.61697	0.99	P	0.55087	0.768	T	0.35226	-0.9797	10	0.41790	T	0.15	.	8.6029	0.33756	0.0:0.0:0.3245:0.6755	.	94	Q8WVK7	SKA2_HUMAN	E	94	ENSP00000333433:K94E	ENSP00000333433:K94E	K	-	1	0	SKA2	54551479	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	3.429000	0.52800	1.886000	0.54624	0.383000	0.25322	AAG		0.378	SKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445939.1	NM_182620		15	32	0	0	0	1	0	15	32					C	57196697	T	C	57196697	3	2	48	1	0	0	0	0	1	0	0	0	14368	1792	62	4	93	4	SKA2	17	57196697	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	90694	57196697	23998513	3791	8259										
C17orf71	55181	broad.mit.edu	37	chr17	57288858	57288858	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctaagattttaagcagtatTaaagtcttggaaggattttt	8	3	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57288858T>C	ENST00000543872.2	+	2	1710	c.1446T>C	c.(1444-1446)atT>atC	p.I482I	SMG8_ENST00000578922.1_Silent_p.I482I|SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Silent_p.I482I			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	482					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)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TAAGCAGTATTAAAGTCTTGG	0.423																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(1444-1446)atT>atC		SMG8 nonsense mediated mRNA decay factor							59	61	60					17																	57288858		2203	4300	6503	SO:0001819	synonymous_variant	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288858T>C	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.1446T>C	17.37:g.57288858T>C			Somatic				SMG8_ENST00000300917.5_Silent_p.I482I|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Silent_p.I482I|CTD-2510F5.6_ENST00000577660.1_Intron	p.I482I			WXS	Illumina GAIIx	Phase_I	Q8ND04	SMG8_HUMAN			2	1710	+			482					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	ENST00000543872.2	37	c.1446T>C	CCDS11615.1																																																																																				0.423	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		27	48	0	0	0	1	0	27	48					C	57288858	T	C	57288858	2	2	48	1	0	0	0	0	0	0	0	1	1880	1742	61	4		4	C17orf71	17	57288858	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	92161	57288858	23906352	3792	8260										
CLTC	1213	broad.mit.edu	37	chr17	57724861	57724861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaatggatctctttgaataCggttgctcttgttacggata	10	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57724861C>T	ENST00000269122.3	+	3	627	c.353C>T	c.(352-354)aCg>aTg	p.T118M	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.T118M	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	118	Globular terminal domain.|WD40-like repeat 3.				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)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCTTTGAATACGGTTGCTCTT	0.403			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)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(352-354)aCg>aTg		clathrin, heavy chain (Hc)							176	158	164					17																	57724861		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.chr17:57724861C>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.353C>T	17.37:g.57724861C>T	ENSP00000269122:p.Thr118Met		Somatic				CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.T118M	p.T118M	NM_004859.3	NP_004850.1	WXS	Illumina GAIIx	Phase_I	Q00610	CLH1_HUMAN			3	627	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		118			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.353C>T	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434478	0.43224	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.43688	0.94;0.94	5.79	5.79	0.91817	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	L	0.43152	1.355	0.80722	D	1	P;B	0.50528	0.936;0.046	B;B	0.41723	0.365;0.178	T	0.18335	-1.0340	10	0.37606	T	0.19	-19.6478	20.0411	0.97590	0.0:1.0:0.0:0.0	.	118;118	Q00610;Q00610-2	CLH1_HUMAN;.	M	118	ENSP00000269122:T118M;ENSP00000376763:T118M	ENSP00000269122:T118M	T	+	2	0	CLTC	55079643	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	7.818000	0.86416	2.739000	0.93911	0.655000	0.94253	ACG		0.403	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		10	74	0	0	0	1	0	10	74					T	57724861	C	T	57724861	3	4	48	1	0	0	0	0	1	0	0	0	3568	536	19	1	363	1	CLTC	17	57724861	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	436003	57724861	23470349	3793	8261										
TUBD1	51174	broad.mit.edu	37	chr17	57958404	57958404	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaaccactgaaagagtcacAtttctccacttccttccgga	5	13	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57958404A>C	ENST00000592426.1	-	3	388	c.388T>G	c.(388-390)Tgt>Ggt	p.C130G	TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.C130G|TUBD1_ENST00000340993.6_Missense_Mutation_p.C130G|TUBD1_ENST00000325752.3_Missense_Mutation_p.C130G|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000376094.4_Missense_Mutation_p.C130G			Q9UJT1	TBD_HUMAN	tubulin, delta 1	130				C -> R (in Ref. 3; BAG60700). {ECO:0000305}.	cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	AAAGAGTCACATTTCTCCACT	0.403																																						ENST00000325752.3																			0				NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21						c.(388-390)Tgt>Ggt		tubulin, delta 1							146	135	139					17																	57958404		2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57958404A>C	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"Tubulins"	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.388T>G	17.37:g.57958404A>C	ENSP00000468518:p.Cys130Gly		Somatic				TUBD1_ENST00000394239.3_Missense_Mutation_p.C130G|TUBD1_ENST00000376094.4_Missense_Mutation_p.C130G|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Missense_Mutation_p.C130G|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.C130G|TUBD1_ENST00000591611.1_Intron	p.C130G	NM_016261.3	NP_057345.2	WXS	Illumina GAIIx	Phase_I	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		4	665	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		130					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.388T>G	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.677645	0.88445	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000394239;ENST00000376094	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	6.08	6.08	0.98989	Tubulin/FtsZ, GTPase domain (4);	0.041688	0.85682	D	0.000000	D	0.90307	0.6968	H	0.95328	3.655	0.58432	D	0.999999	D;D;D;P;P	0.63046	0.992;0.963;0.97;0.954;0.936	D;D;P;P;P	0.70227	0.968;0.925;0.8;0.877;0.882	D	0.92949	0.6379	10	0.87932	D	0	-19.3007	16.6512	0.85203	1.0:0.0:0.0:0.0	.	130;130;130;130;130	E9PCA7;Q5KU37;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	G	130	ENSP00000320797:C130G;ENSP00000342399:C130G;ENSP00000377785:C130G;ENSP00000365262:C130G	ENSP00000320797:C130G	C	-	1	0	TUBD1	55313186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.651000	0.91078	2.333000	0.79357	0.482000	0.46254	TGT		0.403	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		53	85	0	0	0	1	0	53	85					C	57958404	A	C	57958404	3	2	48	1	0	0	0	0	1	0	0	0	16777	217	8	4	997	4	TUBD1	17	57958404	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	233543	57958404	23236806	3794	8262										
HEATR6	63897	broad.mit.edu	37	chr17	58136792	58136792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccactacaaacctttgtggcGaatataaggctttatctggt	8	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58136792G>A	ENST00000184956.6	-	11	1730	c.1714C>T	c.(1714-1716)Cgc>Tgc	p.R572C	HEATR6_ENST00000585976.1_Missense_Mutation_p.R572C	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	572							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)			CCTTTGTGGCGAATATAAGGC	0.348																																						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.(1714-1716)Cgc>Tgc		HEAT repeat containing 6							108	99	102					17																	58136792		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58136792G>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.1714C>T	17.37:g.58136792G>A	ENSP00000184956:p.Arg572Cys		Somatic				HEATR6_ENST00000585976.1_Missense_Mutation_p.R572C	p.R572C	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)		11	1730	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		572					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.1714C>T	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878915	0.72294	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.65916	-0.18	5.62	4.65	0.58169	Armadillo-like helical (1);Armadillo-type fold (1);	0.149427	0.64402	D	0.000008	T	0.48909	0.1526	L	0.34521	1.04	0.58432	D	0.999995	B;B	0.26081	0.047;0.141	B;B	0.20184	0.019;0.028	T	0.47959	-0.9076	10	0.46703	T	0.11	-3.339	10.4854	0.44719	0.1647:0.0:0.8353:0.0	.	419;572	E7ESB9;Q6AI08	.;HEAT6_HUMAN	C	572;419	ENSP00000184956:R572C	ENSP00000184956:R572C	R	-	1	0	HEATR6	55491574	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.291000	0.59025	1.532000	0.49169	0.585000	0.79938	CGC		0.348	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		20	46	0	0	0	1	0	20	46					A	58136792	G	A	58136792	3	1	48	1	0	0	0	0	1	0	0	0	7042	1058	37	1	1871	1	HEATR6	17	58136792	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	178388	58136792	23058418	3795	8263										
HEATR6	63897	broad.mit.edu	37	chr17	58137338	58137338	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aactctctaatgctgcaagcGatcattacggagaagggggt	12	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58137338G>A	ENST00000184956.6	-	10	1552	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	HEATR6_ENST00000585976.1_Silent_p.I512I	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	512							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)			TGCTGCAAGCGATCATTACGG	0.443																																						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.(1534-1536)atC>atT		HEAT repeat containing 6							181	181	181					17																	58137338		2203	4300	6503	SO:0001819	synonymous_variant	63897						binding	g.chr17:58137338G>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.1536C>T	17.37:g.58137338G>A			Somatic				HEATR6_ENST00000585976.1_Silent_p.I512I	p.I512I	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)		10	1552	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		512					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Silent	SNP	ENST00000184956.6	37	c.1536C>T	CCDS11623.1																																																																																				0.443	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		82	153	0	0	0	1	0	82	153					A	58137338	G	A	58137338	2	1	48	1	0	0	0	0	0	0	0	1	7042	1048	37	1		1	HEATR6	17	58137338	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	546	58137338	23057872	3796	8264										
HEATR6	63897	broad.mit.edu	37	chr17	58137400	58137400	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtatcttcagcaacagaaaGaaactgctttgagccttcca	8	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58137400G>T	ENST00000184956.6	-	10	1490	c.1474C>A	c.(1474-1476)Ctt>Att	p.L492I	HEATR6_ENST00000585976.1_Missense_Mutation_p.L492I	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	492							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)			GCAACAGAAAGAAACTGCTTT	0.433																																						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.(1474-1476)Ctt>Att		HEAT repeat containing 6							138	135	136					17																	58137400		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58137400G>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.1474C>A	17.37:g.58137400G>T	ENSP00000184956:p.Leu492Ile		Somatic				HEATR6_ENST00000585976.1_Missense_Mutation_p.L492I	p.L492I	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)		10	1490	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		492					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.1474C>A	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	34	5.321187	0.95682	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.65549	-0.16	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81503	0.4836	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.80625	-0.1299	10	0.44086	T	0.13	-12.7377	19.2306	0.93839	0.0:0.0:1.0:0.0	.	339;492	E7ESB9;Q6AI08	.;HEAT6_HUMAN	I	492;339	ENSP00000184956:L492I	ENSP00000184956:L492I	L	-	1	0	HEATR6	55492182	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.278000	0.95766	2.869000	0.98440	0.558000	0.71614	CTT		0.433	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		21	128	1	0	1.87028e-06	1	2.10206e-06	21	128					T	58137400	G	T	58137400	3	4	48	1	0	0	0	0	1	0	0	0	7042	942	33	2	2115	2	HEATR6	17	58137400	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	62	58137400	23057810	3797	8265										
HEATR6	63897	broad.mit.edu	37	chr17	58153597	58153597	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggacaagaagagcactaacgTcctaccaaaaaaaaaaagat	7	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58153597T>C	ENST00000184956.6	-	2	237	c.221A>G	c.(220-222)gAc>gGc	p.D74G	HEATR6_ENST00000585712.1_5'Flank|HEATR6_ENST00000585976.1_Splice_Site_p.D74G	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	74							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)			AGCACTAACGTCCTACCAAAA	0.368																																						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.e2-1		HEAT repeat containing 6							48	43	45					17																	58153597		2203	4300	6503	SO:0001630	splice_region_variant	63897						binding	g.chr17:58153597T>C	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.220-1A>G	17.37:g.58153597T>C			Somatic				HEATR6_ENST00000585976.1_Splice_Site_p.D74_splice	p.D74_splice	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)		2	237	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		74					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Splice_Site	SNP	ENST00000184956.6	37	c.219_splice	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.903223	0.33628	.	.	ENSG00000068097	ENST00000184956	T	0.44083	0.93	5.1	5.1	0.69264	Armadillo-like helical (1);	0.148976	0.64402	D	0.000016	T	0.38983	0.1061	L	0.57536	1.79	0.37618	D	0.9212	B	0.28713	0.22	B	0.24541	0.054	T	0.38908	-0.9639	10	0.29301	T	0.29	-9.5935	14.0702	0.64854	0.0:0.0:0.0:1.0	.	74	Q6AI08	HEAT6_HUMAN	G	74	ENSP00000184956:D74G	ENSP00000184956:D74G	D	-	2	0	HEATR6	55508379	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	3.817000	0.55668	2.068000	0.61886	0.524000	0.50904	GAC		0.368	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070	Missense_Mutation	9	22	0	0	0	1	0	9	22					C	58153597	T	C	58153597	5	2	48	1	0	0	0	0	0	0	1	0	7042	1681	58	4	3400	4	HEATR6	17	58153597	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	16197	58153597	23041613	3798	8266										
APPBP2	10513	broad.mit.edu	37	chr17	58525055	58525055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atctgtcactgaatattgccGatctcgcaaccggttccagt	8	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58525055G>A	ENST00000083182.3	-	13	1932	c.1645C>T	c.(1645-1647)Cgg>Tgg	p.R549W		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	549					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)			GAATATTGCCGATCTCGCAAC	0.443																																						ENST00000083182.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25						c.(1645-1647)Cgg>Tgg		amyloid beta precursor protein (cytoplasmic tail) binding protein 2							195	191	193					17																	58525055		2203	4300	6503	SO:0001583	missense	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58525055G>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.1645C>T	17.37:g.58525055G>A	ENSP00000083182:p.Arg549Trp		Somatic					p.R549W	NM_006380.2	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	1932	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		549					A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	37	c.1645C>T	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829843	0.71258	.	.	ENSG00000062725	ENST00000083182	D	0.83837	-1.77	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.88698	0.6507	L	0.46157	1.445	0.80722	D	1	D	0.71674	0.998	D	0.66602	0.945	D	0.88881	0.3339	10	0.72032	D	0.01	-8.5633	20.0203	0.97492	0.0:0.0:1.0:0.0	.	549	Q92624	APBP2_HUMAN	W	549	ENSP00000083182:R549W	ENSP00000083182:R549W	R	-	1	2	APPBP2	55879837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.278000	0.78587	2.730000	0.93505	0.655000	0.94253	CGG		0.443	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		53	119	0	0	0	1	0	53	119					A	58525055	G	A	58525055	3	1	48	1	0	0	0	0	1	0	0	0	816	1057	37	1	116	1	APPBP2	17	58525055	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	371458	58525055	22670155	3799	8267										
BCAS3	54828	broad.mit.edu	37	chr17	58824611	58824611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgacatggcccaattcgagCggctagaatcttgcctgctc	10	13	1	1	rs369466598		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58824611C>T	ENST00000390652.5	+	6	405	c.374C>T	c.(373-375)gCg>gTg	p.A125V	BCAS3_ENST00000408905.3_Missense_Mutation_p.A125V|BCAS3_ENST00000588462.1_Missense_Mutation_p.A125V|Y_RNA_ENST00000516725.1_RNA|BCAS3_ENST00000589222.1_Missense_Mutation_p.A125V|BCAS3_ENST00000407086.3_Missense_Mutation_p.A125V	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCAATTCGAGCGGCTAGAATC	0.428																																						ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(373-375)gCg>gTg		breast carcinoma amplified sequence 3		C	VAL/ALA,VAL/ALA	0,3712		0,0,1856	180	168	172		374,374	5.4	1	17		172	1,8209		0,1,4104	no	missense,missense	BCAS3	NM_017679.3,NM_001099432.1	64,64	0,1,5960	TT,TC,CC		0.0122,0.0,0.0084	benign,benign	125/914,125/929	58824611	1,11921	1856	4105	5961	SO:0001583	missense	54828					nucleus		g.chr17:58824611C>T	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.374C>T	17.37:g.58824611C>T	ENSP00000375067:p.Ala125Val		Somatic				BCAS3_ENST00000408905.3_Missense_Mutation_p.A125V|BCAS3_ENST00000407086.3_Missense_Mutation_p.A125V|BCAS3_ENST00000390652.5_Missense_Mutation_p.A125V|BCAS3_ENST00000588462.1_Missense_Mutation_p.A125V	p.A125V			WXS	Illumina GAIIx	Phase_I	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		6	442	+			125						Missense_Mutation	SNP	ENST00000390652.5	37	c.374C>T	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755426	0.31046	0.0	1.22E-4	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905	T;T;T	0.56611	0.45;0.45;0.45	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);	0.300116	0.36893	N	0.002347	T	0.29882	0.0747	N	0.11756	0.17	0.80722	D	1	B;B;B	0.25563	0.129;0.02;0.015	B;B;B	0.14023	0.01;0.003;0.006	T	0.19224	-1.0312	10	0.02654	T	1	.	14.6479	0.68774	0.0:1.0:0.0:0.0	.	125;125;125	Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;BCAS3_HUMAN;.	V	125	ENSP00000375067:A125V;ENSP00000385323:A125V;ENSP00000386173:A125V	ENSP00000375067:A125V	A	+	2	0	BCAS3	56179393	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	5.456000	0.66665	2.527000	0.85204	0.644000	0.83932	GCG		0.428	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		45	87	0	0	0	1	0	45	87					T	58824611	C	T	58824611	3	4	48	1	0	0	0	0	1	0	0	0	1352	768	27	1	392	1	BCAS3	17	58824611	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	299556	58824611	22370599	3800	8268										
TBX4	9496	broad.mit.edu	37	chr17	59560407	59560407	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcagtgaggtgacccccagaGaagcatgtatgtactcaggt	13	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:59560407G>T	ENST00000240335.1	+	8	1213	c.1168G>T	c.(1168-1170)Gaa>Taa	p.E390*	TBX4_ENST00000393853.4_Nonsense_Mutation_p.E391*|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	390					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GACCCCCAGAGAAGCATGTAT	0.607																																						ENST00000393853.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1171-1173)Gaa>Taa		T-box 4							72	66	68					17																	59560407		2203	4300	6503	SO:0001587	stop_gained	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59560407G>T	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"T-boxes"	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1168G>T	17.37:g.59560407G>T	ENSP00000240335:p.Glu390*		Somatic				TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Nonsense_Mutation_p.E390*	p.E391*			WXS	Illumina GAIIx	Phase_I	P57082	TBX4_HUMAN			9	1334	+			390					A5PKU7|B2RMT1|B7ZLV3	Nonsense_Mutation	SNP	ENST00000240335.1	37	c.1171G>T	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	G	37	6.249981	0.97412	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	.	.	.	5.51	5.51	0.81932	.	0.049883	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4116	0.90554	0.0:0.0:1.0:0.0	.	.	.	.	X	391;390	.	.	E	+	1	0	TBX4	56915189	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.411000	0.97342	2.590000	0.87494	0.655000	0.94253	GAA		0.607	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		28	54	1	0	1.68575e-08	1	1.99097e-08	28	54					T	59560407	G	T	59560407	4	4	48	1	0	0	0	0	0	1	0	0	15675	943	33	2	1198	2	TBX4	17	59560407	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	735796	59560407	21634803	3801	8269										
BRIP1	83990	broad.mit.edu	37	chr17	59886056	59886056	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgatccttcttaatggtattCgatgactcttgactgtttcc	7	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:59886056C>T	ENST00000259008.2	-	7	957	c.690G>A	c.(688-690)tcG>tcA	p.S230S	BRIP1_ENST00000577598.1_Silent_p.S230S	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	230	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						TAATGGTATTCGATGACTCTT	0.408			"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.(688-690)tcG>tcA	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							92	85	88					17																	59886056		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:59886056C>T	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.690G>A	17.37:g.59886056C>T			Somatic				BRIP1_ENST00000577598.1_Silent_p.S230S	p.S230S	NM_032043.2	NP_114432.2	WXS	Illumina GAIIx	Phase_I	Q9BX63	FANCJ_HUMAN			7	957	-			230			Helicase ATP-binding.		Q3MJE2|Q8NCI5	Silent	SNP	ENST00000259008.2	37	c.690G>A	CCDS11631.1																																																																																				0.408	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		23	38	0	0	0	1	0	23	38					T	59886056	C	T	59886056	2	4	48	1	0	0	0	0	0	0	0	1	1516	871	31	1		1	BRIP1	17	59886056	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	325649	59886056	21309154	3802	8270										
MED13	9969	broad.mit.edu	37	chr17	60040120	60040120	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctatcactcttacctgtacaGaaacagtactcttgatatga	5	10	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:60040120G>A	ENST00000397786.2	-	21	5133	c.5057C>T	c.(5056-5058)tCt>tTt	p.S1686F		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1686					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						TACCTGTACAGAAACAGTACT	0.368																																						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.(5056-5058)tCt>tTt		mediator complex subunit 13							134	125	128					17																	60040120		1862	4094	5956	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.chr17:60040120G>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.5057C>T	17.37:g.60040120G>A	ENSP00000380888:p.Ser1686Phe		Somatic					p.S1686F	NM_005121.2	NP_005112.2	WXS	Illumina GAIIx	Phase_I	Q9UHV7	MED13_HUMAN			21	5133	-			1686					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.5057C>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111826	0.37242	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.81499	-1.5	5.05	5.05	0.67936	.	0.051577	0.85682	D	0.000000	T	0.74427	0.3715	L	0.41961	1.31	0.80722	D	1	B	0.14438	0.01	B	0.19391	0.025	T	0.69335	-0.5172	10	0.10111	T	0.7	-3.5116	18.3975	0.90504	0.0:0.0:1.0:0.0	.	1686	Q9UHV7	MED13_HUMAN	F	1686;1685	ENSP00000380888:S1686F	ENSP00000262436:S1685F	S	-	2	0	MED13	57394902	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.408000	0.73285	2.340000	0.79590	0.563000	0.77884	TCT		0.368	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		20	47	0	0	0	1	0	20	47					A	60040120	G	A	60040120	3	1	48	1	0	0	0	0	1	0	0	0	9439	942	33	3	1507	3	MED13	17	60040120	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	154064	60040120	21155090	3803	8271										
TLK2	11011	broad.mit.edu	37	chr17	60631070	60631070	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcactagaaaacagtaagaAttctgacttagagaagaagg	10	5	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:60631070A>C	ENST00000326270.9	+	9	942	c.674A>C	c.(673-675)aAt>aCt	p.N225T	TLK2_ENST00000542523.1_Missense_Mutation_p.N193T|TLK2_ENST00000582809.1_Missense_Mutation_p.N76T|RP11-464D20.6_ENST00000583426.1_RNA|TLK2_ENST00000346027.5_Missense_Mutation_p.N225T|TLK2_ENST00000343388.7_Missense_Mutation_p.N193T	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	225					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						AACAGTAAGAATTCTGACTTA	0.299																																						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.(226-228)aAt>aCt		tousled-like kinase 2							54	62	59					17																	60631070		2202	4295	6497	SO:0001583	missense	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.chr17:60631070A>C	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.674A>C	17.37:g.60631070A>C	ENSP00000316512:p.Asn225Thr		Somatic				TLK2_ENST00000542523.1_Missense_Mutation_p.N193T|TLK2_ENST00000326270.9_Missense_Mutation_p.N225T|TLK2_ENST00000343388.7_Missense_Mutation_p.N193T|TLK2_ENST00000346027.5_Missense_Mutation_p.N225T	p.N76T			WXS	Illumina GAIIx	Phase_I	Q86UE8	TLK2_HUMAN			10	930	+			225					D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.227A>C		.	.	.	.	.	.	.	.	.	.	A	9.252	1.040928	0.19669	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.24	4.24	0.50183	.	0.094715	0.64402	D	0.000001	T	0.38719	0.1051	L	0.49350	1.555	0.48236	D	0.999619	P;B;B;B	0.38455	0.632;0.007;0.026;0.007	B;B;B;B	0.38327	0.271;0.015;0.025;0.011	T	0.17653	-1.0362	10	0.28530	T	0.3	.	7.56	0.27845	0.903:0.0:0.097:0.0	.	225;193;225;225	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	T	225;193;225;193	ENSP00000275780:N225T;ENSP00000340800:N193T;ENSP00000316512:N225T;ENSP00000442311:N193T	ENSP00000316512:N225T	N	+	2	0	TLK2	57984802	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.144000	0.64832	1.781000	0.52344	0.377000	0.23210	AAT		0.299	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		3	25	0	0	0	1	0	3	25					C	60631070	A	C	60631070	3	2	48	1	0	0	0	0	1	0	0	0	15959	101	4	4	704	4	TLK2	17	60631070	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	590950	60631070	20564140	3804	8272										
TANC2	26115	broad.mit.edu	37	chr17	61497761	61497761	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgacttccggtccagtagttCtgtaggctctcccactagac	9	13	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:61497761C>A	ENST00000424789.2	+	25	4422	c.4418C>A	c.(4417-4419)tCt>tAt	p.S1473Y	TANC2_ENST00000389520.4_Missense_Mutation_p.S1483Y|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1473					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						TCCAGTAGTTCTGTAGGCTCT	0.552																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(4417-4419)tCt>tAt		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							111	109	110					17																	61497761		2015	4188	6203	SO:0001583	missense	26115						binding	g.chr17:61497761C>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.4418C>A	17.37:g.61497761C>A	ENSP00000387593:p.Ser1473Tyr		Somatic				RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.S1483Y	p.S1473Y	NM_025185.3	NP_079461.2	WXS	Illumina GAIIx	Phase_I	Q9HCD6	TANC2_HUMAN			25	4422	+			1473					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.4418C>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481516	0.63849	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.71579	-0.58;-0.58	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	N	0.24115	0.695	0.80722	D	1	P	0.50943	0.94	P	0.44860	0.462	T	0.69932	-0.5011	10	0.62326	D	0.03	.	18.9244	0.92538	0.0:1.0:0.0:0.0	.	1473	Q9HCD6	TANC2_HUMAN	Y	1483;1473	ENSP00000374171:S1483Y;ENSP00000387593:S1473Y	ENSP00000374171:S1483Y	S	+	2	0	TANC2	58851493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.487000	0.83934	0.561000	0.74099	TCT		0.552	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			33	53	1	0	4.3181e-19	1	5.86915e-19	33	53					A	61497761	C	A	61497761	3	1	48	1	0	0	0	0	1	0	0	0	15560	913	32	2	4516	2	TANC2	17	61497761	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	866691	61497761	19697449	3805	8273										
ACE	1636	broad.mit.edu	37	chr17	61555323	61555323	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgctcagccaggagtttgCggaggcctggggccagaagg	17	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:61555323C>T	ENST00000290866.4	+	2	305	c.281C>T	c.(280-282)gCg>gTg	p.A94V	ACE_ENST00000538928.1_Missense_Mutation_p.A94V|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.A94V	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	94	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CAGGAGTTTGCGGAGGCCTGG	0.617																																						ENST00000290866.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(280-282)gCg>gTg		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)						31	29	30					17																	61555323		2201	4300	6501	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.chr17:61555323C>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.281C>T	17.37:g.61555323C>T	ENSP00000290866:p.Ala94Val		Somatic				ACE_ENST00000538928.1_Missense_Mutation_p.A94V|ACE_ENST00000428043.1_Missense_Mutation_p.A94V|ACE_ENST00000584529.1_3'UTR	p.A94V	NM_000789.3	NP_000780.1	WXS	Illumina GAIIx	Phase_I	P12821	ACE_HUMAN			2	305	+			94			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.281C>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069333	0.36470	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.37235	1.21;1.21;1.21	5.37	2.15	0.27550	.	0.866163	0.10222	N	0.700835	T	0.20941	0.0504	L	0.28344	0.845	0.09310	N	0.999996	B;B;B	0.23735	0.074;0.008;0.09	B;B;B	0.19148	0.002;0.001;0.024	T	0.31364	-0.9946	10	0.11794	T	0.64	-0.496	5.7963	0.18389	0.4334:0.4223:0.0:0.1443	.	94;94;94	F5H1K1;B4DU66;P12821	.;.;ACE_HUMAN	V	94	ENSP00000439591:A94V;ENSP00000290866:A94V;ENSP00000397593:A94V	ENSP00000290866:A94V	A	+	2	0	ACE	58909055	0.000000	0.05858	0.002000	0.10522	0.433000	0.31745	0.749000	0.26320	0.269000	0.21961	0.561000	0.74099	GCG		0.617	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			7	14	0	0	0	1	0	7	14					T	61555323	C	T	61555323	3	4	48	1	0	0	0	0	1	0	0	0	136	768	27	1	287	1	ACE	17	61555323	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	57562	61555323	19639887	3806	8274										
ACE	1636	broad.mit.edu	37	chr17	61571794	61571794	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggtgactttgacccagggGccaagttccacattccttct	9	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:61571794G>T	ENST00000290866.4	+	22	3367	c.3343G>T	c.(3343-3345)Gcc>Tcc	p.A1115S	ACE_ENST00000290863.6_Missense_Mutation_p.A541S|ACE_ENST00000577647.1_Missense_Mutation_p.A541S|ACE_ENST00000413513.3_Missense_Mutation_p.A541S|ACE_ENST00000490216.2_Missense_Mutation_p.A541S|ACE_ENST00000428043.1_Missense_Mutation_p.A1115S|ACE_ENST00000421982.2_Missense_Mutation_p.A361S	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1115	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)	TGACCCAGGGGCCAAGTTCCA	0.547																																						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.(1621-1623)Gcc>Tcc		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)						92	67	76					17																	61571794		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.chr17:61571794G>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.3343G>T	17.37:g.61571794G>T	ENSP00000290866:p.Ala1115Ser		Somatic				ACE_ENST00000428043.1_Missense_Mutation_p.A1115S|ACE_ENST00000290866.4_Missense_Mutation_p.A1115S|ACE_ENST00000290863.6_Missense_Mutation_p.A541S|ACE_ENST00000421982.2_Missense_Mutation_p.A361S|ACE_ENST00000413513.3_Missense_Mutation_p.A541S|ACE_ENST00000490216.2_Missense_Mutation_p.A541S	p.A541S			WXS	Illumina GAIIx	Phase_I	P12821	ACE_HUMAN			11	1666	+			1115			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1621G>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514399	0.27123	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	4.76	3.76	0.43208	.	0.107683	0.64402	N	0.000007	T	0.41143	0.1146	L	0.56199	1.76	0.53005	D	0.999964	B;P;B;B	0.35456	0.031;0.502;0.142;0.038	B;B;B;B	0.43950	0.117;0.437;0.171;0.163	T	0.15037	-1.0451	10	0.25751	T	0.34	-32.6648	13.7779	0.63066	0.0:0.0:0.84:0.1599	.	361;541;541;1115	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	S	1115;1115;541;541;361	ENSP00000290866:A1115S;ENSP00000397593:A1115S;ENSP00000290863:A541S;ENSP00000392247:A541S;ENSP00000387760:A361S	ENSP00000290863:A541S	A	+	1	0	ACE	58925526	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	6.278000	0.72614	0.937000	0.37394	0.313000	0.20887	GCC		0.547	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			11	25	1	0	0.0135373	1	0.0139058	11	25					T	61571794	G	T	61571794	3	4	48	1	0	0	0	0	1	0	0	0	136	1203	42	5	3632	5	ACE	17	61571794	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	16471	61571794	19623416	3807	8275										
KCNH6	81033	broad.mit.edu	37	chr17	61601590	61601590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgaactcttcggctactcccGagtggaggtgatgcagcaac	12	12	1	1	rs200551919		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:61601590G>A	ENST00000583023.1	+	2	178	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	KCNH6_ENST00000580652.1_Missense_Mutation_p.R56Q|KCNH6_ENST00000456941.2_Missense_Mutation_p.R56Q|KCNH6_ENST00000314672.5_Missense_Mutation_p.R56Q|KCNH6_ENST00000581784.1_Missense_Mutation_p.R56Q	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	56	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GGCTACTCCCGAGTGGAGGTG	0.617													G|||	1	0.000199681	0	0.0014	5008	,	,		20807	0		0	False		,,,				2504	0					ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(166-168)cGa>cAa		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						168	149	155					17																	61601590		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61601590G>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.167G>A	17.37:g.61601590G>A	ENSP00000463533:p.Arg56Gln		Somatic				KCNH6_ENST00000580652.1_Missense_Mutation_p.R56Q|KCNH6_ENST00000314672.5_Missense_Mutation_p.R56Q|KCNH6_ENST00000581784.1_Missense_Mutation_p.R56Q|KCNH6_ENST00000456941.2_Missense_Mutation_p.R56Q	p.R56Q	NM_030779.2	NP_110406.1	WXS	Illumina GAIIx	Phase_I	Q9H252	KCNH6_HUMAN			2	178	+			56			PAS.		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.167G>A	CCDS11638.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	21.3	4.125259	0.77436	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.99691	-6.42;-6.42	5.34	5.34	0.76211	PAS fold (1);	0.000000	0.41500	D	0.000861	D	0.99684	0.9881	M	0.79926	2.475	0.48040	D	0.999579	P;D;D	0.89917	0.689;1.0;0.993	P;D;D	0.83275	0.512;0.996;0.975	D	0.97771	1.0226	10	0.87932	D	0	.	18.6335	0.91369	0.0:0.0:1.0:0.0	.	56;56;56	Q9H252-2;Q9H252;Q9H252-3	.;KCNH6_HUMAN;.	Q	56	ENSP00000318212:R56Q;ENSP00000396900:R56Q	ENSP00000318212:R56Q	R	+	2	0	KCNH6	58955322	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.808000	0.99193	2.500000	0.84329	0.561000	0.74099	CGA		0.617	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		71	125	0	0	0	1	0	71	125					A	61601590	G	A	61601590	3	1	48	1	0	0	0	0	1	0	0	0	8045	1058	37	1	173	1	KCNH6	17	61601590	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	29796	61601590	19593620	3808	8276										
SCN4A	6329	broad.mit.edu	37	chr17	62021173	62021173	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcatggcgttatagtatttcTtctgttcctccgtcataaag	7	9	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:62021173T>G	ENST00000435607.1	-	22	4026	c.3950A>C	c.(3949-3951)aAg>aCg	p.K1317T	SCN4A_ENST00000578147.1_Missense_Mutation_p.K1317T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1317					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)	ATAGTATTTCTTCTGTTCCTC	0.547																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(3949-3951)aAg>aCg		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						94	96	95					17																	62021173		2152	4291	6443	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62021173T>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.3950A>C	17.37:g.62021173T>G	ENSP00000396320:p.Lys1317Thr		Somatic				SCN4A_ENST00000435607.1_Missense_Mutation_p.K1317T	p.K1317T			WXS	Illumina GAIIx	Phase_I	P35499	SCN4A_HUMAN			22	4026	-			1317					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.3950A>C	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022567	0.75275	.	.	ENSG00000007314	ENST00000435607	D	0.96774	-4.12	3.38	3.38	0.38709	.	0.000000	0.85682	D	0.000000	D	0.98695	0.9562	H	0.98351	4.21	0.53005	D	0.999965	D	0.89917	1.0	D	0.71184	0.972	D	0.98655	1.0681	10	0.87932	D	0	.	11.4387	0.50083	0.0:0.0:0.0:1.0	.	1317	P35499	SCN4A_HUMAN	T	1317	ENSP00000396320:K1317T	ENSP00000396320:K1317T	K	-	2	0	SCN4A	59374905	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.817000	0.86213	1.552000	0.49463	0.368000	0.22195	AAG		0.547	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		12	25	0	0	0	1	0	12	25					G	62021173	T	G	62021173	3	3	48	1	0	0	0	0	1	0	0	0	13935	1609	56	4	1572	4	SCN4A	17	62021173	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	419583	62021173	19174037	3809	8277										
SCN4A	6329	broad.mit.edu	37	chr17	62034759	62034759	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcatgcccaccacggcgaaGatgaacacgatgatagccag	11	12	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:62034759G>A	ENST00000435607.1	-	13	2215	c.2139C>T	c.(2137-2139)atC>atT	p.I713I	SCN4A_ENST00000578147.1_Silent_p.I713I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	713					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)	CCACGGCGAAGATGAACACGA	0.557																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(2137-2139)atC>atT		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						110	119	116					17																	62034759		2202	4300	6502	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62034759G>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.2139C>T	17.37:g.62034759G>A			Somatic				SCN4A_ENST00000435607.1_Silent_p.I713I	p.I713I			WXS	Illumina GAIIx	Phase_I	P35499	SCN4A_HUMAN			13	2215	-			713					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.2139C>T	CCDS45761.1																																																																																				0.557	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		24	53	0	0	0	1	0	24	53					A	62034759	G	A	62034759	2	1	48	1	0	0	0	0	0	0	0	1	13935	932	33	3		3	SCN4A	17	62034759	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	13586	62034759	19160451	3810	8278										
CCDC45	90799	broad.mit.edu	37	chr17	62518818	62518818	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccactttaatttgtcttactAgcggaaaccctttctgtgag	7	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:62518818A>C	ENST00000556440.2	+	8	1225		c.e8-1		CEP95_ENST00000553412.1_Splice_Site	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa							centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						TTGTCTTACTAGCGGAAACCC	0.388																																						ENST00000556440.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.e8-1		centrosomal protein 95kDa							65	63	64					17																	62518818		1852	4100	5952	SO:0001630	splice_region_variant	90799					centrosome|spindle pole	protein binding	g.chr17:62518818A>C	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.716-1A>C	17.37:g.62518818A>C			Somatic				CEP95_ENST00000553412.1_Splice_Site		NM_138363.1	NP_612372.1	WXS	Illumina GAIIx	Phase_I	Q96GE4	CEP95_HUMAN			8	1225	+								B4DMD2|Q96M81	Splice_Site	SNP	ENST00000556440.2	37		CCDS45763.1	.	.	.	.	.	.	.	.	.	.	A	9.292	1.050834	0.19827	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	.	.	.	5.62	3.29	0.37713	.	.	.	.	.	.	.	.	.	.	.	0.20196	N	0.999925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.118	0.36769	0.6584:0.0:0.0:0.3416	.	.	.	.	.	-1	.	.	.	+	.	.	CEP95	59949280	0.259000	0.24043	0.011000	0.14972	0.031000	0.12232	2.375000	0.44283	0.942000	0.37525	0.482000	0.46254	.		0.388	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363	Intron	20	33	0	0	0	1	0	20	33					C	62518818	A	C	62518818	5	2	48	1	0	0	0	0	0	0	1	0	2818	434	15	4	744	4	CCDC45	17	62518818	Splice_Site	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	484059	62518818	18676392	3811	8279										
CCDC45	90799	broad.mit.edu	37	chr17	62530763	62530763	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatcaaagataaaagaaaatCgacagcaaatcgttcgtgct	7	7	1	2	rs201158989		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:62530763C>T	ENST00000556440.2	+	17	2488	c.1978C>T	c.(1978-1980)Cga>Tga	p.R660*	CEP95_ENST00000553412.1_Nonsense_Mutation_p.R496*	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	660						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AAAAGAAAATCGACAGCAAAT	0.413																																						ENST00000556440.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(1978-1980)Cga>Tga		centrosomal protein 95kDa							105	100	102					17																	62530763		1873	4102	5975	SO:0001587	stop_gained	90799					centrosome|spindle pole	protein binding	g.chr17:62530763C>T	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.1978C>T	17.37:g.62530763C>T	ENSP00000450461:p.Arg660*		Somatic				CEP95_ENST00000553412.1_Nonsense_Mutation_p.R496*	p.R660*	NM_138363.1	NP_612372.1	WXS	Illumina GAIIx	Phase_I	Q96GE4	CEP95_HUMAN			17	2488	+			660					B4DMD2|Q96M81	Nonsense_Mutation	SNP	ENST00000556440.2	37	c.1978C>T	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	C	37	6.434597	0.97564	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	.	.	.	5.75	3.7	0.42460	.	0.118551	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1007	14.6377	0.68702	0.3794:0.6206:0.0:0.0	.	.	.	.	X	595;660;496	.	ENSP00000438458:R595X	R	+	1	2	CEP95	59961225	1.000000	0.71417	0.986000	0.45419	0.008000	0.06430	1.149000	0.31626	0.821000	0.34540	0.650000	0.86243	CGA		0.413	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		3	24	0	0	0	1	0	3	24					T	62530763	C	T	62530763	4	4	48	1	0	0	0	0	0	1	0	0	2818	876	31	1	2044	1	CCDC45	17	62530763	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	11945	62530763	18664447	3812	8280										
CCDC46	201134	broad.mit.edu	37	chr17	64001835	64001835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttcctcaaatttatgaattTtcttttgagtatcttctttt	3	7	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:64001835T>C	ENST00000392769.2	-	17	1927	c.1709A>G	c.(1708-1710)aAa>aGa	p.K570R	CEP112_ENST00000535342.2_Missense_Mutation_p.K570R|CEP112_ENST00000537949.1_Missense_Mutation_p.K528R|CEP112_ENST00000541355.1_Missense_Mutation_p.K205R	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	570					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						TTTATGAATTTTCTTTTGAGT	0.323																																						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.(1708-1710)aAa>aGa		centrosomal protein 112kDa							65	65	65					17																	64001835		2202	4295	6497	SO:0001583	missense	201134					centrosome		g.chr17:64001835T>C	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.1709A>G	17.37:g.64001835T>C	ENSP00000376522:p.Lys570Arg		Somatic				CEP112_ENST00000541355.1_Missense_Mutation_p.K205R|CEP112_ENST00000535342.2_Missense_Mutation_p.K570R|CEP112_ENST00000537949.1_Missense_Mutation_p.K528R	p.K570R	NM_145036.3	NP_659473.2	WXS	Illumina GAIIx	Phase_I	Q8N8E3	CE112_HUMAN			17	1927	-			570					Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.1709A>G	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.708642	0.48517	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.66	4.59	0.56863	.	0.269471	0.40302	N	0.001139	T	0.17959	0.0431	L	0.48362	1.52	0.30382	N	0.781847	B;B;B	0.23540	0.087;0.015;0.087	B;B;B	0.23018	0.043;0.016;0.043	T	0.11641	-1.0579	10	0.25751	T	0.34	-23.0116	9.3667	0.38228	0.0:0.0814:0.0:0.9186	.	528;528;570	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	R	570;570;205;528	ENSP00000442784:K570R;ENSP00000376522:K570R;ENSP00000443711:K205R;ENSP00000440775:K528R	ENSP00000376522:K570R	K	-	2	0	CEP112	61432297	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	2.923000	0.48868	1.094000	0.41399	0.528000	0.53228	AAA		0.323	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		8	16	0	0	0	1	0	8	16					C	64001835	T	C	64001835	3	2	48	1	0	0	0	0	1	0	0	0	2819	1841	64	4	1368	4	CCDC46	17	64001835	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1471072	64001835	17193375	3813	8281										
NOL11	25926	broad.mit.edu	37	chr17	65722653	65722653	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaatcagagcttagttaaaTcactgctgctcaaggctgtt	8	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:65722653T>A	ENST00000253247.4	+	7	857	c.742T>A	c.(742-744)Tca>Aca	p.S248T	NOL11_ENST00000535137.1_Missense_Mutation_p.S66T	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	248					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTTAGTTAAATCACTGCTGCT	0.458																																						ENST00000253247.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11						c.(742-744)Tca>Aca		nucleolar protein 11							95	81	86					17																	65722653		2203	4300	6503	SO:0001583	missense	25926					nucleolus		g.chr17:65722653T>A	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.742T>A	17.37:g.65722653T>A	ENSP00000253247:p.Ser248Thr		Somatic				NOL11_ENST00000535137.1_Missense_Mutation_p.S66T	p.S248T	NM_015462.3	NP_056277.2	WXS	Illumina GAIIx	Phase_I	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		7	857	+	all_cancers(12;1.54e-10)		248					B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	c.742T>A	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	T	4.728	0.135458	0.09032	.	.	ENSG00000130935	ENST00000253247;ENST00000535137	T	0.52057	0.68	5.55	3.16	0.36331	.	0.352424	0.29631	N	0.011615	T	0.39517	0.1081	L	0.57536	1.79	0.20975	N	0.999819	B	0.21905	0.062	B	0.19391	0.025	T	0.28235	-1.0050	10	0.37606	T	0.19	-10.2132	6.4507	0.21902	0.1514:0.0:0.1689:0.6797	.	248	Q9H8H0	NOL11_HUMAN	T	248;66	ENSP00000253247:S248T	ENSP00000253247:S248T	S	+	1	0	NOL11	63153115	0.514000	0.26202	0.168000	0.22838	0.031000	0.12232	1.486000	0.35530	0.922000	0.37019	0.533000	0.62120	TCA		0.458	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		16	37	0	0	0	1	0	16	37					A	65722653	T	A	65722653	3	1	48	1	0	0	0	0	1	0	0	0	10530	1435	50	4	768	4	NOL11	17	65722653	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1720818	65722653	15472557	3814	8282										
ARSG	22901	broad.mit.edu	37	chr17	66303753	66303753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acagaagccaaactttgtgaTtattttggccgatgacatgg	10	7	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:66303753T>C	ENST00000448504.2	+	2	915	c.119T>C	c.(118-120)aTt>aCt	p.I40T	ARSG_ENST00000452479.2_Intron	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	40					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)			AACTTTGTGATTATTTTGGCC	0.473																																						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.(118-120)aTt>aCt		arylsulfatase G							100	98	99					17																	66303753		2203	4300	6503	SO:0001583	missense	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66303753T>C	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.119T>C	17.37:g.66303753T>C	ENSP00000407193:p.Ile40Thr		Somatic				ARSG_ENST00000452479.2_Intron	p.I40T	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)		2	915	+			40					Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	c.119T>C	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500463	0.64298	.	.	ENSG00000141337	ENST00000452479	.	.	.	5.59	5.59	0.84812	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.135869	0.49305	D	0.000159	T	0.79251	0.4414	M	0.85197	2.74	0.80722	D	1	D	0.62365	0.991	D	0.63192	0.912	T	0.83005	-0.0175	9	0.87932	D	0	.	13.7387	0.62833	0.0:0.0:0.0:1.0	.	40	Q96EG1	ARSG_HUMAN	T	40	.	ENSP00000413953:I40T	I	+	2	0	ARSG	63815348	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	5.195000	0.65131	2.120000	0.65058	0.460000	0.39030	ATT		0.473	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		5	66	0	0	0	1	0	5	66					C	66303753	T	C	66303753	3	2	48	1	0	0	0	0	1	0	0	0	992	1493	52	4	121	4	ARSG	17	66303753	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	581100	66303753	14891457	3815	8283										
ABCA8	10351	broad.mit.edu	37	chr17	66872602	66872602	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgtggtaatgttcctcaccAcatttgctgctgcccctcgg	9	15	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:66872602A>G	ENST00000269080.2	-	33	4386	c.4249T>C	c.(4249-4251)Tgg>Cgg	p.W1417R	ABCA8_ENST00000586539.1_Splice_Site_p.W1457R|ABCA8_ENST00000430352.2_Splice_Site_p.W1457R	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1417	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)					GTTCCTCACCACATTTGCTGC	0.527																																						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.e33+1		ATP-binding cassette, sub-family A (ABC1), member 8							109	101	104					17																	66872602		2203	4300	6503	SO:0001630	splice_region_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66872602A>G	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.4250+1T>C	17.37:g.66872602A>G			Somatic				ABCA8_ENST00000430352.2_Splice_Site_p.W1457_splice|ABCA8_ENST00000586539.1_Splice_Site_p.W1457_splice	p.W1417_splice	NM_007168.2	NP_009099.1	WXS	Illumina GAIIx	Phase_I	O94911	ABCA8_HUMAN			33	4386	-	Breast(10;4.56e-13)		1417			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Splice_Site	SNP	ENST00000269080.2	37	c.4250_splice	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.540739	0.65085	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.97575	-4.44;-4.44	3.81	2.68	0.31781	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.43260	D	0.000597	D	0.96642	0.8904	L	0.35723	1.085	0.50467	D	0.999879	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.95496	0.8573	10	0.87932	D	0	.	8.7813	0.34794	0.831:0.0:0.0:0.169	.	1457;1457;1417	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	R	1417;1457	ENSP00000269080:W1417R;ENSP00000402814:W1457R	ENSP00000269080:W1417R	W	-	1	0	ABCA8	64384197	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	5.697000	0.68295	0.600000	0.29862	0.533000	0.62120	TGG		0.527	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	Missense_Mutation	5	94	0	0	0	1	0	5	94					G	66872602	A	G	66872602	5	3	48	1	0	0	0	0	0	0	1	0	38	173	6	4	520	4	ABCA8	17	66872602	Splice_Site	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	568849	66872602	14322608	3816	8284										
ABCA8	10351	broad.mit.edu	37	chr17	66887695	66887695	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgatgttaaaaccagccagaAcatgatatatgccaggaatc	8	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:66887695A>G	ENST00000269080.2	-	22	3096	c.2959T>C	c.(2959-2961)Ttc>Ctc	p.F987L	ABCA8_ENST00000586539.1_Missense_Mutation_p.F1027L|ABCA8_ENST00000430352.2_Missense_Mutation_p.F1027L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	987					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)					ACCAGCCAGAACATGATATAT	0.363																																						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.(2959-2961)Ttc>Ctc		ATP-binding cassette, sub-family A (ABC1), member 8							119	103	108					17																	66887695		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66887695A>G	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.2959T>C	17.37:g.66887695A>G	ENSP00000269080:p.Phe987Leu		Somatic				ABCA8_ENST00000430352.2_Missense_Mutation_p.F1027L|ABCA8_ENST00000586539.1_Missense_Mutation_p.F1027L	p.F987L	NM_007168.2	NP_009099.1	WXS	Illumina GAIIx	Phase_I	O94911	ABCA8_HUMAN			22	3096	-	Breast(10;4.56e-13)		987					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.2959T>C	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	A	10.12	1.263174	0.23051	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.86297	-2.1;-2.1	4.44	1.98	0.26296	.	0.360572	0.23736	N	0.045064	T	0.77942	0.4206	L	0.41027	1.25	0.09310	N	1	B;B;B;B	0.22541	0.058;0.071;0.003;0.02	B;B;B;B	0.29785	0.065;0.107;0.008;0.044	T	0.60495	-0.7252	10	0.23302	T	0.38	.	3.2062	0.06666	0.5285:0.0:0.1018:0.3697	.	966;1027;1027;987	F5H6Z4;A1L3U3;C9JQE6;O94911	.;.;.;ABCA8_HUMAN	L	987;1027;966	ENSP00000269080:F987L;ENSP00000402814:F1027L	ENSP00000269080:F987L	F	-	1	0	ABCA8	64399290	0.000000	0.05858	0.098000	0.21074	0.020000	0.10135	0.224000	0.17738	0.810000	0.34279	0.528000	0.53228	TTC		0.363	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		4	13	0	0	0	1	0	4	13					G	66887695	A	G	66887695	3	3	48	1	0	0	0	0	1	0	0	0	38	43	2	4	1854	4	ABCA8	17	66887695	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	15093	66887695	14307515	3817	8285										
ABCA8	10351	broad.mit.edu	37	chr17	66903902	66903902	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggaaatttatttgttctttCtaagggtaatgtataaataa	7	2	2	0	rs199766554	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:66903902C>A	ENST00000269080.2	-	16	2274	c.2137G>T	c.(2137-2139)Gaa>Taa	p.E713*	ABCA8_ENST00000586539.1_Nonsense_Mutation_p.E753*|ABCA8_ENST00000430352.2_Nonsense_Mutation_p.E753*	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	713					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)					TTTGTTCTTTCTAAGGGTAAT	0.303																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(2137-2139)Gaa>Taa		ATP-binding cassette, sub-family A (ABC1), member 8							133	128	129					17																	66903902		2203	4297	6500	SO:0001587	stop_gained	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66903902C>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.2137G>T	17.37:g.66903902C>A	ENSP00000269080:p.Glu713*		Somatic				ABCA8_ENST00000430352.2_Nonsense_Mutation_p.E753*|ABCA8_ENST00000586539.1_Nonsense_Mutation_p.E753*	p.E713*	NM_007168.2	NP_009099.1	WXS	Illumina GAIIx	Phase_I	O94911	ABCA8_HUMAN			16	2274	-	Breast(10;4.56e-13)		713					A1L3U3|C9JQE6|Q86WW0	Nonsense_Mutation	SNP	ENST00000269080.2	37	c.2137G>T	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	41	9.114668	0.99069	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	.	.	.	4.9	4.9	0.64082	.	0.000000	0.49916	D	0.000140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	17.2378	0.87004	0.0:1.0:0.0:0.0	.	.	.	.	X	713;753;692	.	ENSP00000269080:E713X	E	-	1	0	ABCA8	64415497	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	3.090000	0.50191	2.544000	0.85801	0.655000	0.94253	GAA		0.303	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		6	9	1	0	3.59834e-05	1	3.93264e-05	6	9					A	66903902	C	A	66903902	4	1	48	1	0	0	0	0	0	1	0	0	38	922	32	2	2700	2	ABCA8	17	66903902	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	16207	66903902	14291308	3818	8286										
ABCA6	23460	broad.mit.edu	37	chr17	67111054	67111054	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtcttgcatttcagagagaTttttattatagatggtaact	8	4	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:67111054T>C	ENST00000284425.2	-	13	1805	c.1631A>G	c.(1630-1632)aAt>aGt	p.N544S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	544	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTCAGAGAGATTTTTATTATA	0.308																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(1630-1632)aAt>aGt		ATP-binding cassette, sub-family A (ABC1), member 6							62	60	60					17																	67111054		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67111054T>C	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1631A>G	17.37:g.67111054T>C	ENSP00000284425:p.Asn544Ser		Somatic					p.N544S	NM_080284.2	NP_525023.2	WXS	Illumina GAIIx	Phase_I	Q8N139	ABCA6_HUMAN			13	1805	-	Breast(10;5.65e-12)		544			ABC transporter 1.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.1631A>G	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822292	0.32237	.	.	ENSG00000154262	ENST00000284425	D	0.93426	-3.22	4.87	4.87	0.63330	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.208590	0.33110	N	0.005269	D	0.87014	0.6072	N	0.13098	0.295	0.80722	D	1	B	0.17465	0.022	B	0.22152	0.038	T	0.83239	-0.0059	10	0.38643	T	0.18	.	14.0864	0.64959	0.0:0.0:0.0:1.0	.	544	Q8N139	ABCA6_HUMAN	S	544	ENSP00000284425:N544S	ENSP00000284425:N544S	N	-	2	0	ABCA6	64622649	0.040000	0.19996	0.981000	0.43875	0.840000	0.47671	0.127000	0.15790	2.169000	0.68431	0.528000	0.53228	AAT		0.308	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		15	27	0	0	0	1	0	15	27					C	67111054	T	C	67111054	3	2	48	1	0	0	0	0	1	0	0	0	36	1493	52	4	3330	4	ABCA6	17	67111054	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	207152	67111054	14084156	3819	8287										
ABCA5	23461	broad.mit.edu	37	chr17	67257334	67257334	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatacaaaaggcataatgaaGaatagttgcaattgtgtatc	9	4	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:67257334G>A	ENST00000392676.3	-	26	3560	c.3496C>T	c.(3496-3498)Ctt>Ttt	p.L1166F	ABCA5_ENST00000392677.2_Missense_Mutation_p.L1167F|ABCA5_ENST00000588877.1_Missense_Mutation_p.L1166F			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1166					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)	GCATAATGAAGAATAGTTGCA	0.289																																						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.(3496-3498)Ctt>Ttt		ATP-binding cassette, sub-family A (ABC1), member 5							47	47	47					17																	67257334		2201	4291	6492	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.chr17:67257334G>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.3496C>T	17.37:g.67257334G>A	ENSP00000376443:p.Leu1166Phe		Somatic				ABCA5_ENST00000392677.2_Missense_Mutation_p.L1167F|ABCA5_ENST00000588877.1_Missense_Mutation_p.L1166F	p.L1166F			WXS	Illumina GAIIx	Phase_I	Q8WWZ7	ABCA5_HUMAN			26	3560	-	Breast(10;3.72e-11)		1166					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.3496C>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572843	0.28092	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.89746	-2.56;-2.56	5.33	1.99	0.26369	.	0.219887	0.31922	N	0.006849	T	0.80253	0.4589	L	0.39245	1.2	0.49798	D	0.99982	B	0.10296	0.003	B	0.16722	0.016	T	0.65405	-0.6176	9	.	.	.	.	4.7497	0.13054	0.2157:0.0:0.6186:0.1657	.	1166	Q8WWZ7	ABCA5_HUMAN	F	1167;1166	ENSP00000376444:L1167F;ENSP00000376443:L1166F	.	L	-	1	0	ABCA5	64768929	0.982000	0.34865	0.794000	0.32065	0.484000	0.33280	1.540000	0.36115	0.165000	0.19558	0.650000	0.86243	CTT		0.289	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		4	27	0	0	0	1	0	4	27					A	67257334	G	A	67257334	3	1	48	1	0	0	0	0	1	0	0	0	35	942	33	3	1488	3	ABCA5	17	67257334	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	146280	67257334	13937876	3820	8288										
ABCA5	23461	broad.mit.edu	37	chr17	67270154	67270154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttatgtggtttgtctccagGttttagaaaatataagtctg	9	4	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:67270154G>T	ENST00000392676.3	-	20	2774	c.2710C>A	c.(2710-2712)Cct>Act	p.P904T	ABCA5_ENST00000392677.2_Missense_Mutation_p.P904T|ABCA5_ENST00000588877.1_Missense_Mutation_p.P904T			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	904					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)	TTGTCTCCAGGTTTTAGAAAA	0.363																																						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.(2710-2712)Cct>Act		ATP-binding cassette, sub-family A (ABC1), member 5							103	104	104					17																	67270154		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.chr17:67270154G>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.2710C>A	17.37:g.67270154G>T	ENSP00000376443:p.Pro904Thr		Somatic				ABCA5_ENST00000392677.2_Missense_Mutation_p.P904T|ABCA5_ENST00000588877.1_Missense_Mutation_p.P904T	p.P904T			WXS	Illumina GAIIx	Phase_I	Q8WWZ7	ABCA5_HUMAN			20	2774	-	Breast(10;3.72e-11)		904					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.2710C>A	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950052	0.53186	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87809	-2.26;-2.3	5.53	4.56	0.56223	.	0.300312	0.29028	N	0.013380	D	0.88130	0.6354	M	0.76328	2.33	0.42849	D	0.994072	B;B	0.26547	0.126;0.152	B;B	0.36335	0.142;0.222	D	0.85544	0.1217	9	.	.	.	.	14.2675	0.66129	0.0726:0.0:0.9274:0.0	.	904;904	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	T	904	ENSP00000376444:P904T;ENSP00000376443:P904T	.	P	-	1	0	ABCA5	64781749	1.000000	0.71417	0.978000	0.43139	0.721000	0.41392	5.194000	0.65125	1.472000	0.48140	0.585000	0.79938	CCT		0.363	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		17	43	1	0	5.01169e-05	1	5.45927e-05	17	43					T	67270154	G	T	67270154	3	4	48	1	0	0	0	0	1	0	0	0	35	1261	44	5	2298	5	ABCA5	17	67270154	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	12820	67270154	13925056	3821	8289										
ABCA5	23461	broad.mit.edu	37	chr17	67302906	67302906	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcccattatctttaaaaattCttttatttttttttcttttt	0	6	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:67302906C>A	ENST00000392676.3	-	6	812	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	ABCA5_ENST00000392677.2_Nonsense_Mutation_p.E250*|ABCA5_ENST00000588877.1_Nonsense_Mutation_p.E250*			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	250					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)	TTTAAAAATTCTTTTATTTTT	0.239																																						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.(748-750)Gaa>Taa		ATP-binding cassette, sub-family A (ABC1), member 5							14	16	15					17																	67302906		2119	4222	6341	SO:0001587	stop_gained	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.chr17:67302906C>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.748G>T	17.37:g.67302906C>A	ENSP00000376443:p.Glu250*		Somatic				ABCA5_ENST00000392677.2_Nonsense_Mutation_p.E250*|ABCA5_ENST00000588877.1_Nonsense_Mutation_p.E250*	p.E250*			WXS	Illumina GAIIx	Phase_I	Q8WWZ7	ABCA5_HUMAN			6	812	-	Breast(10;3.72e-11)		250					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Nonsense_Mutation	SNP	ENST00000392676.3	37	c.748G>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	48	14.922770	0.99815	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	.	.	.	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5867	0.91192	0.0:1.0:0.0:0.0	.	.	.	.	X	250	.	.	E	-	1	0	ABCA5	64814501	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.561000	0.73955	2.353000	0.79882	0.655000	0.94253	GAA		0.239	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		7	17	1	0	0.27861	1	0.279356	7	17					A	67302906	C	A	67302906	4	1	48	1	0	0	0	0	0	1	0	0	35	922	32	2	4316	2	ABCA5	17	67302906	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	32752	67302906	13892304	3822	8290										
SDK2	54549	broad.mit.edu	37	chr17	71334925	71334925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggtgtggtctggctcacccGagtcgctctccgtgtagctg	14	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:71334925G>A	ENST00000392650.3	-	45	6320	c.6320C>T	c.(6319-6321)tCg>tTg	p.S2107L	SDK2_ENST00000388726.3_Missense_Mutation_p.S2088L|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2107					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGCTCACCCGAGTCGCTCTC	0.627																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(6319-6321)tCg>tTg		sidekick cell adhesion molecule 2							159	124	136					17																	71334925		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71334925G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6320C>T	17.37:g.71334925G>A	ENSP00000376421:p.Ser2107Leu		Somatic				SDK2_ENST00000388726.3_Missense_Mutation_p.S2088L|SDK2_ENST00000410094.1_5'UTR	p.S2107L	NM_001144952.1	NP_001138424.1	WXS	Illumina GAIIx	Phase_I	Q58EX2	SDK2_HUMAN			45	6320	-			2107					A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.6320C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763818	0.69878	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.61392	0.11;0.14;1.38	4.71	4.71	0.59529	.	0.076114	0.56097	D	0.000036	T	0.49558	0.1564	L	0.29908	0.895	0.49299	D	0.999773	B;B	0.26635	0.155;0.145	B;B	0.28638	0.047;0.092	T	0.52230	-0.8603	10	0.59425	D	0.04	.	17.3033	0.87188	0.0:0.0:1.0:0.0	.	2107;2088	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	L	1731;2107;2088;1264;2107;448	ENSP00000376421:S2107L;ENSP00000373378:S2088L;ENSP00000407098:S1264L	ENSP00000324967:S2107L	S	-	2	0	SDK2	68846520	1.000000	0.71417	0.897000	0.35233	0.827000	0.46813	6.260000	0.72502	2.168000	0.68352	0.650000	0.86243	TCG		0.627	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		15	23	0	0	0	1	0	15	23					A	71334925	G	A	71334925	3	1	48	1	0	0	0	0	1	0	0	0	13984	1059	37	1	202	1	SDK2	17	71334925	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4032019	71334925	9860285	3823	8291										
SDK2	54549	broad.mit.edu	37	chr17	71390374	71390374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcccagcacgagcccgttgcGatcagcctcggggacctcgc	13	17	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:71390374G>A	ENST00000392650.3	-	26	3682	c.3682C>T	c.(3682-3684)Cgc>Tgc	p.R1228C	SDK2_ENST00000388726.3_Missense_Mutation_p.R1228C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1228	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGCCCGTTGCGATCAGCCTCG	0.657																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(3682-3684)Cgc>Tgc		sidekick cell adhesion molecule 2							42	37	38					17																	71390374		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71390374G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3682C>T	17.37:g.71390374G>A	ENSP00000376421:p.Arg1228Cys		Somatic				SDK2_ENST00000388726.3_Missense_Mutation_p.R1228C	p.R1228C	NM_001144952.1	NP_001138424.1	WXS	Illumina GAIIx	Phase_I	Q58EX2	SDK2_HUMAN			26	3682	-			1228			Fibronectin type-III 7.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.3682C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	9.764	1.170958	0.21621	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.57907	0.37;0.37;0.37	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055776	0.64402	D	0.000001	T	0.44767	0.1309	L	0.46614	1.455	0.58432	D	0.999999	B;B;B	0.31054	0.257;0.306;0.261	B;B;B	0.24269	0.049;0.052;0.031	T	0.47058	-0.9146	10	0.56958	D	0.05	.	13.0785	0.59100	0.0799:0.0:0.9201:0.0	.	1228;1228;1228	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	C	852;1228;1228;404;1228	ENSP00000376421:R1228C;ENSP00000373378:R1228C;ENSP00000407098:R404C	ENSP00000324967:R1228C	R	-	1	0	SDK2	68901969	0.665000	0.27466	0.951000	0.38953	0.024000	0.10985	2.830000	0.48136	2.426000	0.82243	0.313000	0.20887	CGC		0.657	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		8	15	0	0	0	1	0	8	15					A	71390374	G	A	71390374	3	1	48	1	0	0	0	0	1	0	0	0	13984	1058	37	1	2916	1	SDK2	17	71390374	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	55449	71390374	9804836	3824	8292										
RPL38	6169	broad.mit.edu	37	chr17	72205359	72205359	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaaaataaggacaacgtgaAgtttaaagttcgatgcagca	10	5	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:72205359A>C	ENST00000311111.6	+	4	229	c.98A>C	c.(97-99)aAg>aCg	p.K33T	CTD-2514K5.2_ENST00000532794.1_RNA|RPL38_ENST00000533498.1_Missense_Mutation_p.K33T|CTD-2514K5.2_ENST00000499670.2_RNA|RPL38_ENST00000534490.1_Missense_Mutation_p.K33T|RPL38_ENST00000584577.1_Missense_Mutation_p.K33T|RPL38_ENST00000439590.2_Missense_Mutation_p.K33T			P63173	RL38_HUMAN	ribosomal protein L38	33					90S preribosome assembly (GO:0034463)|axial mesoderm development (GO:0048318)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|middle ear morphogenesis (GO:0042474)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ossification (GO:0001503)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|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)|eukaryotic 80S initiation complex (GO:0033291)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|pancreas(1)	2						GACAACGTGAAGTTTAAAGTT	0.458																																						ENST00000311111.6																			0				large_intestine(1)|pancreas(1)	2						c.(97-99)aAg>aCg		ribosomal protein L38							127	121	123					17																	72205359		2203	4300	6503	SO:0001583	missense	6169				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr17:72205359A>C	AB007185	CCDS11696.1	17q25.1	2013-06-19			ENSG00000172809	ENSG00000172809		"L ribosomal proteins"	10349	protein-coding gene	gene with protein product		604182				9582194	Standard	NM_000999		Approved	L38	uc002jka.3	P63173	OTTHUMG00000166016	ENST00000311111.6:c.98A>C	17.37:g.72205359A>C	ENSP00000309830:p.Lys33Thr		Somatic				RPL38_ENST00000533498.1_Missense_Mutation_p.K33T|RPL38_ENST00000584577.1_Missense_Mutation_p.K33T|RPL38_ENST00000534490.1_Missense_Mutation_p.K33T|RPL38_ENST00000439590.2_Missense_Mutation_p.K33T	p.K33T			WXS	Illumina GAIIx	Phase_I	P63173	RL38_HUMAN			4	229	+			33					B2R5A8|P23411	Missense_Mutation	SNP	ENST00000311111.6	37	c.98A>C	CCDS11696.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596502	0.86953	.	.	ENSG00000172809	ENST00000439590;ENST00000311111;ENST00000533498	.	.	.	5.27	5.27	0.74061	.	0.048222	0.85682	D	0.000000	T	0.78227	0.4250	.	.	.	0.80722	D	1	D	0.63046	0.992	D	0.66084	0.941	T	0.81671	-0.0827	8	0.87932	D	0	-5.0542	14.867	0.70425	1.0:0.0:0.0:0.0	.	33	P63173	RL38_HUMAN	T	33	.	ENSP00000309830:K33T	K	+	2	0	RPL38	69716954	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.364000	0.90105	1.991000	0.58162	0.533000	0.62120	AAG		0.458	RPL38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387450.2	NM_000999		9	107	0	0	0	1	0	9	107					C	72205359	A	C	72205359	3	2	48	1	0	0	0	0	1	0	0	0	13606	72	3	4	108	4	RPL38	17	72205359	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	814985	72205359	8989851	3825	8293										
KIF19	124602	broad.mit.edu	37	chr17	72350678	72350678	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaagcggaggtcccgatccTtcgaggtcaccgggcaaggg	17	11	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:72350678T>G	ENST00000389916.4	+	18	2824	c.2686T>G	c.(2686-2688)Ttc>Gtc	p.F896V	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	896					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						GTCCCGATCCTTCGAGGTCAC	0.642																																						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.(2686-2688)Ttc>Gtc		kinesin family member 19							14	19	17					17																	72350678		2003	4122	6125	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72350678T>G	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.2686T>G	17.37:g.72350678T>G	ENSP00000374566:p.Phe896Val		Somatic					p.F896V	NM_153209.3	NP_694941.2	WXS	Illumina GAIIx	Phase_I	Q2TAC6	KIF19_HUMAN			18	2824	+			896					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.2686T>G	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382956	0.82792	.	.	ENSG00000196169	ENST00000389916	T	0.75260	-0.92	4.81	4.81	0.61882	.	.	.	.	.	T	0.73552	0.3601	M	0.61703	1.905	0.50313	D	0.999862	P	0.48294	0.908	P	0.44422	0.449	T	0.75665	-0.3239	9	0.45353	T	0.12	.	13.4105	0.60940	0.0:0.0:0.0:1.0	.	896	Q2TAC6	KIF19_HUMAN	V	896	ENSP00000374566:F896V	ENSP00000374566:F896V	F	+	1	0	KIF19	69862273	1.000000	0.71417	0.999000	0.59377	0.709000	0.40893	3.969000	0.56816	1.813000	0.52934	0.454000	0.30748	TTC		0.642	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		4	4	0	0	0	1	0	4	4					G	72350678	T	G	72350678	3	3	48	1	0	0	0	0	1	0	0	0	8291	1609	56	4	2756	4	KIF19	17	72350678	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	145319	72350678	8844532	3826	8294										
CD300C	10871	broad.mit.edu	37	chr17	72539095	72539095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggacctgaggtgcccatggaGctctgggggctggaggctgt	19	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:72539095G>A	ENST00000330793.1	-	3	792	c.432C>T	c.(430-432)agC>agT	p.S144S		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	144	Pro-rich.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TGCCCATGGAGCTCTGGGGGC	0.622																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	ENST00000330793.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						c.(430-432)agC>agT		CD300c molecule							113	99	104					17																	72539095		2203	4300	6503	SO:0001819	synonymous_variant	10871				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr17:72539095G>A	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19320	protein-coding gene	gene with protein product		606786	"CD300c antigen"			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.432C>T	17.37:g.72539095G>A			Somatic					p.S144S	NM_006678.3	NP_006669.1	WXS	Illumina GAIIx	Phase_I	Q08708	CLM6_HUMAN			3	792	-			144			Pro-rich.			Silent	SNP	ENST00000330793.1	37	c.432C>T	CCDS11701.1																																																																																				0.622	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		26	37	0	0	0	1	0	26	37					A	72539095	G	A	72539095	2	1	48	1	0	0	0	0	0	0	0	1	2999	962	34	3		3	CD300C	17	72539095	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	188417	72539095	8656115	3827	8295										
FDXR	2232	broad.mit.edu	37	chr17	72860427	72860427	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggcttctctgtggccgttCgaagcagcagttccgtcagc	12	13	2	0	rs111830964	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:72860427C>T	ENST00000293195.5	-	9	923	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	FDXR_ENST00000583917.1_Missense_Mutation_p.R254Q|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000544854.1_Missense_Mutation_p.R230Q|FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000442102.2_Missense_Mutation_p.R325Q|FDXR_ENST00000455107.2_Missense_Mutation_p.R238Q|FDXR_ENST00000413947.2_Missense_Mutation_p.R313Q|FDXR_ENST00000581530.1_Missense_Mutation_p.R288Q|FDXR_ENST00000420580.2_Missense_Mutation_p.R242Q|FDXR_ENST00000582944.1_Missense_Mutation_p.R274Q	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	282					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)	TGTGGCCGTTCGAAGCAGCAG	0.687													C|||	7	0.00139776	0	0	5008	,	,		14056	0		0	False		,,,				2504	0.0072					ENST00000455107.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(712-714)cGa>cAa		ferredoxin reductase							16	19	18					17																	72860427		2145	4190	6335	SO:0001583	missense	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72860427C>T	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.845G>A	17.37:g.72860427C>T	ENSP00000293195:p.Arg282Gln		Somatic				FDXR_ENST00000442102.2_Missense_Mutation_p.R325Q|FDXR_ENST00000413947.2_Missense_Mutation_p.R313Q|FDXR_ENST00000544854.1_Missense_Mutation_p.R230Q|FDXR_ENST00000583917.1_Missense_Mutation_p.R254Q|FDXR_ENST00000420580.2_Missense_Mutation_p.R242Q|FDXR_ENST00000582944.1_Missense_Mutation_p.R274Q|FDXR_ENST00000293195.5_Missense_Mutation_p.R282Q|FDXR_ENST00000581530.1_Missense_Mutation_p.R288Q	p.R238Q			WXS	Illumina GAIIx	Phase_I	P22570	ADRO_HUMAN			10	1129	-	all_lung(278;0.172)|Lung NSC(278;0.207)		282					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.713G>A	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.349766	0.24426	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17	4.38	-0.331	0.12679	.	0.358121	0.28436	N	0.015353	T	0.08626	0.0214	N	0.03999	-0.3	0.36008	D	0.837841	B;B;B;B;B;B;B;B;B;B	0.18610	0.029;0.022;0.02;0.008;0.004;0.002;0.002;0.008;0.002;0.008	B;B;B;B;B;B;B;B;B;B	0.16722	0.003;0.016;0.002;0.001;0.001;0.001;0.0;0.001;0.0;0.001	T	0.17379	-1.0371	10	0.39692	T	0.17	-33.5401	9.3393	0.38069	0.0:0.393:0.0:0.607	.	242;325;313;280;230;313;282;274;282;288	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	Q	242;230;288;238;325;313	ENSP00000414172:R242Q;ENSP00000445432:R230Q;ENSP00000390875:R238Q;ENSP00000416515:R325Q;ENSP00000408595:R313Q	ENSP00000293195:R288Q	R	-	2	0	FDXR	70372022	0.969000	0.33509	0.464000	0.27143	0.038000	0.13279	0.756000	0.26419	-0.029000	0.13827	-0.367000	0.07326	CGA		0.687	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		15	28	0	0	0	1	0	15	28					T	72860427	C	T	72860427	3	4	48	1	0	0	0	0	1	0	0	0	5815	884	31	1	646	1	FDXR	17	72860427	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	321332	72860427	8334783	3828	8296										
SEPT9	10801	broad.mit.edu	37	chr17	75398271	75398271	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttccaggacctgggcgtgaaGaactcagaaccctcggcccg	12	14	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:75398271G>T	ENST00000427177.1	+	3	333	c.207G>T	c.(205-207)aaG>aaT	p.K69N	SEPT9_ENST00000585930.1_5'Flank|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000329047.8_Missense_Mutation_p.K51N|SEPT9_ENST00000423034.2_Missense_Mutation_p.K62N|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000591198.1_Missense_Mutation_p.K50N|SEPT9_ENST00000590294.1_Missense_Mutation_p.K51N|SEPT9_ENST00000431235.2_5'UTR	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	69					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TGGGCGTGAAGAACTCAGAAC	0.672																																						ENST00000329047.8																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16						c.(151-153)aaG>aaT		septin 9							32	36	35					17																	75398271		1938	4137	6075	SO:0001583	missense	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	g.chr17:75398271G>T	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"Septins"	7323	protein-coding gene	gene with protein product	"Ov/Br septin"	604061	"MLL septin-like fusion"	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.207G>T	17.37:g.75398271G>T	ENSP00000391249:p.Lys69Asn		Somatic				SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000591198.1_Missense_Mutation_p.K50N|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000423034.2_Missense_Mutation_p.K62N|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000427177.1_Missense_Mutation_p.K69N|SEPT9_ENST00000590294.1_Missense_Mutation_p.K51N	p.K51N	NM_006640.4	NP_006631.2	WXS	Illumina GAIIx	Phase_I	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		2	965	+			69					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	c.153G>T	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532513	0.45073	.	.	ENSG00000184640	ENST00000427177;ENST00000329047;ENST00000423034	T;T;T	0.36699	1.24;1.25;1.26	4.89	3.93	0.45458	.	8.207450	0.00550	U	0.000249	T	0.35653	0.0939	N	0.19112	0.55	0.80722	D	1	P;P;P;P	0.38767	0.634;0.496;0.646;0.514	B;B;B;B	0.41894	0.369;0.168;0.115;0.115	T	0.02852	-1.1102	10	0.59425	D	0.04	.	12.1	0.53778	0.0837:0.0:0.9163:0.0	.	50;62;51;69	Q9UHD8-7;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;SEPT9_HUMAN	N	69;51;62	ENSP00000391249:K69N;ENSP00000329161:K51N;ENSP00000405877:K62N	ENSP00000329161:K51N	K	+	3	2	SEPT9	72909866	1.000000	0.71417	0.975000	0.42487	0.867000	0.49689	2.852000	0.48310	1.059000	0.40554	0.555000	0.69702	AAG		0.672	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		26	43	1	0	3.73808e-20	1	5.11168e-20	26	43					T	75398271	G	T	75398271	3	4	48	1	0	0	0	0	1	0	0	0	14086	933	33	2	302	2	SEPT9	17	75398271	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2537844	75398271	5796939	3829	8297										
DNAH17	8632	broad.mit.edu	37	chr17	76503679	76503679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agatggagatgacggagtccGccgtggacagcttctgctgc	15	10	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:76503679G>A	ENST00000585328.1	-	28	4560	c.4436C>T	c.(4435-4437)gCg>gTg	p.A1479V	DNAH17_ENST00000389840.5_Missense_Mutation_p.A1478V	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1478	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)			GACGGAGTCCGCCGTGGACAG	0.602																																						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.(4432-4434)gCg>gTg		dynein, axonemal, heavy chain 17							45	52	50					17																	76503679		2165	4283	6448	SO:0001583	missense	8632							g.chr17:76503679G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4436C>T	17.37:g.76503679G>A	ENSP00000465516:p.Ala1479Val		Somatic				DNAH17_ENST00000585328.1_Missense_Mutation_p.A1479V	p.A1478V			WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		28	4557	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.4433C>T		.	.	.	.	.	.	.	.	.	.	G	9.846	1.192353	0.21954	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.58797	0.31	4.97	4.97	0.65823	Dynein heavy chain, domain-2 (1);	.	.	.	.	T	0.44477	0.1295	N	0.25825	0.765	0.40556	D	0.981164	B	0.30889	0.299	B	0.25614	0.062	T	0.37776	-0.9691	9	0.20046	T	0.44	.	18.2408	0.89967	0.0:0.0:1.0:0.0	.	1478	Q9UFH2	DYH17_HUMAN	V	1479;1478	ENSP00000374490:A1478V	ENSP00000300671:A1479V	A	-	2	0	DNAH17	74015274	1.000000	0.71417	0.242000	0.24170	0.051000	0.14879	5.108000	0.64609	2.276000	0.75962	0.563000	0.77884	GCG		0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		22	27	0	0	0	1	0	22	27					A	76503679	G	A	76503679	3	1	48	1	0	0	0	0	1	0	0	0	4603	1087	38	1	9159	1	DNAH17	17	76503679	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1105408	76503679	4691531	3830	8298										
USP36	57602	broad.mit.edu	37	chr17	76799474	76799474	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcctgcccttacctgtgccGaagtgggtcctggtgcaggc	13	14	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:76799474G>A	ENST00000542802.3	-	16	3246	c.2803C>T	c.(2803-2805)Cgg>Tgg	p.R935W	USP36_ENST00000312010.6_Missense_Mutation_p.R935W|USP36_ENST00000449938.2_Missense_Mutation_p.R540W			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	935					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)			TACCTGTGCCGAAGTGGGTCC	0.562																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(2803-2805)Cgg>Tgg		ubiquitin specific peptidase 36							61	57	58					17																	76799474		2203	4300	6503	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76799474G>A	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.2803C>T	17.37:g.76799474G>A	ENSP00000441214:p.Arg935Trp		Somatic				USP36_ENST00000542802.2_Missense_Mutation_p.R935W|USP36_ENST00000449938.2_Missense_Mutation_p.R540W	p.R935W	NM_025090.3	NP_079366.3	WXS	Illumina GAIIx	Phase_I	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		16	3127	-			935					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.2803C>T	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.536744	0.65085	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.18502	3.25;2.21;3.25	5.22	-2.41	0.06562	.	1.502310	0.03310	N	0.190401	T	0.07279	0.0184	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37291	-0.9712	10	0.37606	T	0.19	0.0644	13.594	0.61978	0.3207:0.0:0.6793:0.0	.	935;935	Q9P275;Q9P275-2	UBP36_HUMAN;.	W	935;540;935	ENSP00000310590:R935W;ENSP00000401119:R540W;ENSP00000441214:R935W	ENSP00000310590:R935W	R	-	1	2	USP36	74311069	0.000000	0.05858	0.000000	0.03702	0.972000	0.66771	-1.103000	0.03329	-0.903000	0.03881	-0.254000	0.11334	CGG		0.562	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		19	50	0	0	0	1	0	19	50					A	76799474	G	A	76799474	3	1	48	1	0	0	0	0	1	0	0	0	17082	1057	37	1	588	1	USP36	17	76799474	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	295795	76799474	4395736	3831	8299										
ENGASE	64772	broad.mit.edu	37	chr17	77073826	77073826	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctcttggcgtggaagccccGcttggaggatggctttaatg	15	9	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:77073826G>A	ENST00000579016.1	+	3	296	c.296G>A	c.(295-297)cGc>cAc	p.R99H	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	99						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)	p.A95_L100delAWKPRL(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TGGAAGCCCCGCTTGGAGGAT	0.557																																						ENST00000579016.1																			1	Deletion - In frame(1)	p.A95_L100delAWKPRL(1)	breast(1)	breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(295-297)cGc>cAc		endo-beta-N-acetylglucosaminidase							86	89	88					17																	77073826		1948	4142	6090	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77073826G>A	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.296G>A	17.37:g.77073826G>A	ENSP00000462333:p.Arg99His		Somatic				ENGASE_ENST00000539857.2_5'UTR	p.R99H	NM_001042573.2	NP_001036038.1	WXS	Illumina GAIIx	Phase_I	Q8NFI3	ENASE_HUMAN			3	296	+			99					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.296G>A	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	G	2.868	-0.234723	0.05983	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	4.92	-9.83	0.00482	.	1.131930	0.06568	N	0.747940	T	0.10465	0.0256	N	0.02011	-0.69	0.09310	N	0.999999	B;B	0.12013	0.0;0.005	B;B	0.04013	0.0;0.001	T	0.34254	-0.9836	9	0.44086	T	0.13	-18.3722	4.0616	0.09841	0.1891:0.2192:0.4497:0.142	.	99;99	Q8NFI3;Q8NFI3-3	ENASE_HUMAN;.	H	99	.	ENSP00000308158:R99H	R	+	2	0	ENGASE	74585421	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.246000	0.02896	-2.758000	0.00371	-0.440000	0.05779	CGC		0.557	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		33	59	0	0	0	1	0	33	59					A	77073826	G	A	77073826	3	1	48	1	0	0	0	0	1	0	0	0	5120	1087	38	1	306	1	ENGASE	17	77073826	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	274352	77073826	4121384	3832	8300										
GAA	2548	broad.mit.edu	37	chr17	78078718	78078718	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcccgcggctgttgctacatCcctgcaaagcaggggctgca	13	14	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:78078718C>T	ENST00000302262.3	+	2	552	c.333C>T	c.(331-333)atC>atT	p.I111I	GAA_ENST00000390015.3_Silent_p.I111I	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	111	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.				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)			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)	GTTGCTACATCCCTGCAAAGC	0.647																																						ENST00000302262.3																			0				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.(331-333)atC>atT		glucosidase, alpha; acid	Acarbose(DB00284)						25	23	24					17																	78078718		2202	4297	6499	SO:0001819	synonymous_variant	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.chr17:78078718C>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.333C>T	17.37:g.78078718C>T			Somatic				GAA_ENST00000390015.3_Silent_p.I111I	p.I111I	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)		2	552	+	all_neural(118;0.117)		111			P-type.		Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	c.333C>T	CCDS32760.1																																																																																				0.647	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			15	23	0	0	0	1	0	15	23					T	78078718	C	T	78078718	2	4	48	1	0	0	0	0	0	0	0	1	6155	845	30	3		3	GAA	17	78078718	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1004892	78078718	3116492	3833	8301										
RNF213	57674	broad.mit.edu	37	chr17	78353468	78353468	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcattgactgccatgcgccgAttggaggcattgaccacaaa	11	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:78353468A>C	ENST00000582970.1	+	55	13737	c.13594A>C	c.(13594-13596)Att>Ctt	p.I4532L	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.I4581L|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.I2605L|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4532					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)			CCATGCGCCGATTGGAGGCAT	0.507																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(13594-13596)Att>Ctt		ring finger protein 213							131	119	123					17																	78353468		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78353468A>C	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.13594A>C	17.37:g.78353468A>C	ENSP00000464087:p.Ile4532Leu		Somatic				RNF213_ENST00000336301.6_Missense_Mutation_p.I2605L|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.I4581L	p.I4532L	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)		55	13737	+	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.13594A>C	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.330396	0.41297	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.40225	1.04	5.5	-6.55	0.01854	.	0.466272	0.22022	N	0.065720	T	0.37892	0.1020	M	0.74467	2.265	0.09310	N	1	B;B	0.31435	0.323;0.108	B;B	0.30572	0.117;0.025	T	0.17715	-1.0360	10	0.45353	T	0.12	.	14.8464	0.70264	0.2766:0.0982:0.6252:0.0	.	4581;2605	C9JCP4;Q63HN8	.;RN213_HUMAN	L	4532;4581;2605	ENSP00000338218:I2605L	ENSP00000338218:I2605L	I	+	1	0	RNF213	75968063	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.072000	0.14617	-1.420000	0.02009	-0.256000	0.11100	ATT		0.507	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		21	47	0	0	0	1	0	21	47					C	78353468	A	C	78353468	3	2	48	1	0	0	0	0	1	0	0	0	13492	333	12	4	14127	4	RNF213	17	78353468	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	274750	78353468	2841742	3834	8302										
FASN	2194	broad.mit.edu	37	chr17	80049219	80049219	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcggtggcggggacagccgcGatgtcgttcagcatgctcag	17	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:80049219G>A	ENST00000306749.2	-	9	1589	c.1371C>T	c.(1369-1371)atC>atT	p.I457I		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	457	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)	GGACAGCCGCGATGTCGTTCA	0.711																																					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.(1369-1371)atC>atT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						16	20	19					17																	80049219		2184	4281	6465	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80049219G>A	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.1371C>T	17.37:g.80049219G>A			Somatic					p.I457I	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)		9	1589	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		457			Acyl and malonyl transferases (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.1371C>T	CCDS11801.1																																																																																				0.711	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		6	16	0	0	0	1	0	6	16					A	80049219	G	A	80049219	2	1	48	1	0	0	0	0	0	0	0	1	5691	1048	37	1		1	FASN	17	80049219	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1695751	80049219	1145991	3835	8303										
HEXDC	284004	broad.mit.edu	37	chr17	80377718	80377718	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agatgagattagttcatttaGaccttaaaggagctccacca	8	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:80377718G>A	ENST00000327949.9	+	1	54	c.43G>A	c.(43-45)Gac>Aac	p.D15N	OGFOD3_ENST00000329197.5_5'Flank|HEXDC_ENST00000577944.1_Missense_Mutation_p.D15N|OGFOD3_ENST00000313056.5_5'Flank|HEXDC_ENST00000337014.6_Missense_Mutation_p.D15N|Y_RNA_ENST00000364369.1_RNA			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	15					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)			AGTTCATTTAGACCTTAAAGG	0.433																																						ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(43-45)Gac>Aac		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							89	90	90					17																	80377718		1875	4090	5965	SO:0001583	missense	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80377718G>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.43G>A	17.37:g.80377718G>A	ENSP00000332634:p.Asp15Asn		Somatic				HEXDC_ENST00000327949.9_Missense_Mutation_p.D15N|HEXDC_ENST00000577944.1_Missense_Mutation_p.D15N	p.D15N	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)		2	517	+	Breast(20;0.00106)|all_neural(118;0.0804)		15					B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37	c.43G>A		.	.	.	.	.	.	.	.	.	.	G	24.3	4.510675	0.85389	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.99900	-7.63;-7.63	4.97	4.97	0.65823	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.165901	0.44097	D	0.000485	D	0.99880	0.9943	M	0.85041	2.73	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96118	0.9082	10	0.87932	D	0	-45.2912	15.7781	0.78240	0.0:0.0:1.0:0.0	.	15;15	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	N	15	ENSP00000337854:D15N;ENSP00000332634:D15N	ENSP00000332634:D15N	D	+	1	0	HEXDC	77971007	1.000000	0.71417	0.992000	0.48379	0.593000	0.36681	5.979000	0.70508	2.568000	0.86640	0.655000	0.94253	GAC		0.433	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		8	36	0	0	0	1	0	8	36					A	80377718	G	A	80377718	3	1	48	1	0	0	0	0	1	0	0	0	7084	942	33	3	45	3	HEXDC	17	80377718	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	328499	80377718	817492	3836	8304										
RAB40B	10966	broad.mit.edu	37	chr17	80617462	80617462	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttctacaacatacctcatcGatctccttaatccatcgatc	2	14	3	0	rs372054252		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:80617462G>A	ENST00000571995.1	-	4	467	c.336C>T	c.(334-336)atC>atT	p.I112I	RAB40B_ENST00000571880.1_5'Flank|RAB40B_ENST00000538809.2_Silent_p.I112I|RAB40B_ENST00000269347.6_5'UTR	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	112					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ATACCTCATCGATCTCCTTAA	0.562																																						ENST00000571995.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10						c.(334-336)atC>atT		RAB40B, member RAS oncogene family		G		0,4406		0,0,2203	150	120	130		336	-0.5	1	17		130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RAB40B	NM_006822.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		112/279	80617462	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10966				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr17:80617462G>A	U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"RAB, member RAS oncogene"	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.336C>T	17.37:g.80617462G>A			Somatic				RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000538809.2_Silent_p.I112I	p.I112I	NM_006822.2	NP_006813.1	WXS	Illumina GAIIx	Phase_I	Q12829	RB40B_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		4	467	-	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	112					Q8WVG3	Silent	SNP	ENST00000571995.1	37	c.336C>T	CCDS11816.1																																																																																				0.562	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1			19	42	0	0	0	1	0	19	42					A	80617462	G	A	80617462	2	1	48	1	0	0	0	0	0	0	0	1	12956	1048	37	1		1	RAB40B	17	80617462	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	239744	80617462	577748	3837	8305										
CETN1	1068	broad.mit.edu	37	chr18	580627	580627	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagagatgaagaaaatgatCtccgaggtggacagggaagg	16	4	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:580627C>A	ENST00000327228.3	+	1	261	c.219C>A	c.(217-219)atC>atA	p.I73I		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	73	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						AGAAAATGATCTCCGAGGTGG	0.552																																						ENST00000327228.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						c.(217-219)atC>atA		centrin, EF-hand protein, 1							76	62	67					18																	580627		2203	4300	6503	SO:0001819	synonymous_variant	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580627C>A	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"EF-hand domain containing"	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.219C>A	18.37:g.580627C>A			Somatic					p.I73I	NM_004066.1	NP_004057.1	WXS	Illumina GAIIx	Phase_I	Q12798	CETN1_HUMAN			1	261	+			73			EF-hand 2.		B2R536	Silent	SNP	ENST00000327228.3	37	c.219C>A	CCDS11820.1																																																																																				0.552	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		20	37	1	0	2.37509e-13	1	3.04217e-13	20	37					A	580627	C	A	580627	2	1	48	1	0	0	0	0	0	0	0	1	3276	903	32	2		2	CETN1	18	580627	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08		580627	77496621	3838	8306										
YES1	7525	broad.mit.edu	37	chr18	736808	736808	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttatgtaaaagtaattttacCttgtcttgctgtgtattcat	6	5	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:736808C>T	ENST00000584307.1	-	10	1461	c.1291G>A	c.(1291-1293)Ggt>Agt	p.G431S	RP11-769O8.2_ENST00000579595.1_RNA|YES1_ENST00000577961.1_Splice_Site_p.G436S|RP11-769O8.1_ENST00000583314.1_RNA|RP11-769O8.3_ENST00000581712.1_RNA|YES1_ENST00000314574.4_Splice_Site_p.G431S			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	431	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	GTAATTTTACCTTGTCTTGCT	0.343																																						ENST00000584307.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.e10+1		v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	Dasatinib(DB01254)						97	84	88					18																	736808		2202	4298	6500	SO:0001630	splice_region_variant	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.chr18:736808C>T	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.1291+1G>A	18.37:g.736808C>T			Somatic				RP11-769O8.1_ENST00000583314.1_RNA|YES1_ENST00000577961.1_Splice_Site_p.G436_splice|YES1_ENST00000314574.4_Splice_Site_p.G431_splice	p.G431_splice			WXS	Illumina GAIIx	Phase_I	P07947	YES_HUMAN			10	1461	-			431			Protein kinase.		A6NLB3|D3DUH1	Splice_Site	SNP	ENST00000584307.1	37	c.1291_splice	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	C	34	5.349962	0.95830	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	D	0.82167	-1.58	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);	0.000000	0.85682	D	0.000000	T	0.81049	0.4742	L	0.41906	1.305	0.80722	D	1	P	0.35821	0.523	B	0.41332	0.354	T	0.77998	-0.2376	9	.	.	.	.	19.0227	0.92921	0.0:1.0:0.0:0.0	.	431	P07947	YES_HUMAN	S	431	ENSP00000324740:G431S	.	G	-	1	0	YES1	726808	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.713000	0.84693	2.570000	0.86706	0.650000	0.86243	GGT		0.343	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433	Missense_Mutation	5	27	0	0	0	1	0	5	27					T	736808	C	T	736808	5	4	48	1	0	0	0	0	0	0	1	0	17489	695	24	3	352	3	YES1	18	736808	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	156181	736808	77340440	3839	8307										
SMCHD1	23347	broad.mit.edu	37	chr18	2778221	2778221	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggataatctggatgcggccaAtcattatagaaaagaggtat	11	5	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:2778221A>C	ENST00000320876.6	+	44	5869	c.5531A>C	c.(5530-5532)aAt>aCt	p.N1844T	RP11-703M24.5_ENST00000583546.1_RNA|Y_RNA_ENST00000384307.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.N1844T	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1844					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						GATGCGGCCAATCATTATAGA	0.279																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(5530-5532)aAt>aCt		structural maintenance of chromosomes flexible hinge domain containing 1							64	62	62					18																	2778221		1798	4066	5864	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2778221A>C	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.5531A>C	18.37:g.2778221A>C	ENSP00000326603:p.Asn1844Thr		Somatic				RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.N1844T	p.N1844T	NM_015295.2	NP_056110.2	WXS	Illumina GAIIx	Phase_I	A6NHR9	SMHD1_HUMAN			44	5869	+			1844					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.5531A>C	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809390	0.70797	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	D;D	0.85484	-1.99;-1.99	5.38	5.38	0.77491	SMCs flexible hinge (3);	0.048923	0.85682	D	0.000000	D	0.88526	0.6460	L	0.41824	1.3	0.39646	D	0.970395	D	0.69078	0.997	D	0.79108	0.992	D	0.89009	0.3427	10	0.45353	T	0.12	-28.0085	13.9681	0.64221	1.0:0.0:0.0:0.0	.	1844	A6NHR9	SMHD1_HUMAN	T	1844	ENSP00000326603:N1844T;ENSP00000261598:N1844T	ENSP00000261598:N1844T	N	+	2	0	SMCHD1	2768221	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.502000	0.66956	2.030000	0.59900	0.377000	0.23210	AAT		0.279	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			7	8	0	0	0	1	0	7	8					C	2778221	A	C	2778221	3	2	48	1	0	0	0	0	1	0	0	0	14803	101	4	4	5705	4	SMCHD1	18	2778221	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2041413	2778221	75299027	3840	8308										
EMILIN2	84034	broad.mit.edu	37	chr18	2890578	2890578	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gataatgaacccagccaattCtcagagcccaggaagacttt	8	11	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:2890578C>A	ENST00000254528.3	+	4	612	c.453C>A	c.(451-453)ttC>ttA	p.F151L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	151					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)		CCAGCCAATTCTCAGAGCCCA	0.443																																						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.(451-453)ttC>ttA		elastin microfibril interfacer 2							46	49	48					18																	2890578		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2890578C>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.453C>A	18.37:g.2890578C>A	ENSP00000254528:p.Phe151Leu		Somatic					p.F151L	NM_032048.2	NP_114437.2	WXS	Illumina GAIIx	Phase_I	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	612	+			151					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.453C>A	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	0.790	-0.759042	0.03019	.	.	ENSG00000132205	ENST00000254528	T	0.33865	1.39	5.44	3.63	0.41609	.	0.832392	0.10543	N	0.662481	T	0.21841	0.0526	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.24693	-1.0153	10	0.25106	T	0.35	-12.1758	9.0728	0.36502	0.0:0.8416:0.0:0.1584	.	151	Q9BXX0	EMIL2_HUMAN	L	151	ENSP00000254528:F151L	ENSP00000254528:F151L	F	+	3	2	EMILIN2	2880578	0.001000	0.12720	0.041000	0.18516	0.373000	0.29922	0.146000	0.16180	0.645000	0.30675	0.557000	0.71058	TTC		0.443	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		21	54	1	0	1.2644e-06	1	1.4261e-06	21	54					A	2890578	C	A	2890578	3	1	48	1	0	0	0	0	1	0	0	0	5096	912	32	2	467	2	EMILIN2	18	2890578	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	112357	2890578	75186670	3841	8309										
MYOM1	8736	broad.mit.edu	37	chr18	3151809	3151809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagatataggaacgaccttCgatcaatccagtgacaggaa	10	8	1	2	rs373869989		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:3151809C>T	ENST00000356443.4	-	12	2059	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	MYOM1_ENST00000261606.7_Missense_Mutation_p.E576K|MYOM1_ENST00000400569.3_Missense_Mutation_p.E576K	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	576	Fibronectin type-III 1. {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						GAACGACCTTCGATCAATCCA	0.507											OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(1726-1728)Gaa>Aaa		myomesin 1		C	LYS/GLU,LYS/GLU	0,3850		0,0,1925	92	90	91		1726,1726	4.9	1	18		91	1,8289		0,1,4144	no	missense,missense	MYOM1	NM_003803.3,NM_019856.1	56,56	0,1,6069	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging,probably-damaging	576/1686,576/1590	3151809	1,12139	1925	4145	6070	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3151809C>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.1726G>A	18.37:g.3151809C>T	ENSP00000348821:p.Glu576Lys		Somatic	OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	609	MYOM1_ENST00000261606.7_Missense_Mutation_p.E576K|MYOM1_ENST00000400569.3_Missense_Mutation_p.E576K	p.E576K	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	WXS	Illumina GAIIx	Phase_I	P52179	MYOM1_HUMAN			12	2059	-			576			Fibronectin type-III 1.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.1726G>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549205	0.86127	0.0	1.21E-4	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.57907	0.37;0.37;0.37	4.89	4.89	0.63831	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73094	0.3543	M	0.76170	2.325	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75033	-0.3460	10	0.52906	T	0.07	.	18.2384	0.89958	0.0:1.0:0.0:0.0	.	576;576	P52179-2;P52179	.;MYOM1_HUMAN	K	576	ENSP00000348821:E576K;ENSP00000383413:E576K;ENSP00000261606:E576K	ENSP00000261606:E576K	E	-	1	0	MYOM1	3141809	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	7.638000	0.83328	2.552000	0.86080	0.655000	0.94253	GAA		0.507	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		20	39	0	0	0	1	0	20	39					T	3151809	C	T	3151809	3	4	48	1	0	0	0	0	1	0	0	0	10100	893	31	1	3439	1	MYOM1	18	3151809	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	261231	3151809	74925439	3842	8310										
PTPRM	5797	broad.mit.edu	37	chr18	7955218	7955218	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catcaatggggatgggcccaTtgtggcccgagaggtggagt	17	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:7955218T>C	ENST00000332175.8	+	7	1975	c.938T>C	c.(937-939)aTt>aCt	p.I313T	PTPRM_ENST00000400053.4_Missense_Mutation_p.I251T|PTPRM_ENST00000400060.4_Missense_Mutation_p.I313T|PTPRM_ENST00000580170.1_Missense_Mutation_p.I313T|PTPRM_ENST00000444013.1_Missense_Mutation_p.I100T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	313	Fibronectin type-III 1. {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)			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)				GATGGGCCCATTGTGGCCCGA	0.577																																						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.(937-939)aTt>aCt		protein tyrosine phosphatase, receptor type, M							53	51	52					18																	7955218		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.chr18:7955218T>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.938T>C	18.37:g.7955218T>C	ENSP00000331418:p.Ile313Thr		Somatic				PTPRM_ENST00000400053.4_Missense_Mutation_p.I251T|PTPRM_ENST00000400060.4_Missense_Mutation_p.I313T|PTPRM_ENST00000444013.1_Missense_Mutation_p.I100T|PTPRM_ENST00000580170.1_Missense_Mutation_p.I313T	p.I313T	NM_002845.3	NP_002836.3	WXS	Illumina GAIIx	Phase_I	P28827	PTPRM_HUMAN			7	1975	+		Colorectal(10;0.234)	313			Fibronectin type-III 1.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.938T>C	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533577	0.45073	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81138	0.4760	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;0.988;0.988	D;P;P	0.81914	0.995;0.907;0.907	D	0.83870	0.0273	10	0.87932	D	0	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	100;313;313	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	T	313;313;251;100	ENSP00000331418:I313T;ENSP00000382933:I313T;ENSP00000382927:I251T;ENSP00000387608:I100T	ENSP00000331418:I313T	I	+	2	0	PTPRM	7945218	1.000000	0.71417	0.886000	0.34754	0.900000	0.52787	8.040000	0.89188	2.311000	0.77944	0.533000	0.62120	ATT		0.577	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			5	53	0	0	0	1	0	5	53					C	7955218	T	C	7955218	3	2	48	1	0	0	0	0	1	0	0	0	12821	1493	52	4	964	4	PTPRM	18	7955218	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	4803409	7955218	70122030	3843	8311										
PTPRM	5797	broad.mit.edu	37	chr18	8143718	8143718	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttaaaattgctggagtcatCgcgggcatcttgctgttcgt	12	8	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:8143718C>T	ENST00000332175.8	+	14	3278	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	PTPRM_ENST00000400053.4_Silent_p.I685I|PTPRM_ENST00000400060.4_Silent_p.I747I|PTPRM_ENST00000580170.1_Silent_p.I747I|PTPRM_ENST00000444013.1_Silent_p.I534I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	747					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)				CTGGAGTCATCGCGGGCATCT	0.438																																						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.(2239-2241)atC>atT		protein tyrosine phosphatase, receptor type, M							177	170	173					18																	8143718		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.chr18:8143718C>T	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.2241C>T	18.37:g.8143718C>T			Somatic				PTPRM_ENST00000400053.4_Silent_p.I685I|PTPRM_ENST00000400060.4_Silent_p.I747I|PTPRM_ENST00000444013.1_Silent_p.I534I|PTPRM_ENST00000580170.1_Silent_p.I747I	p.I747I	NM_002845.3	NP_002836.3	WXS	Illumina GAIIx	Phase_I	P28827	PTPRM_HUMAN			14	3278	+		Colorectal(10;0.234)	747					A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.2241C>T	CCDS11840.1																																																																																				0.438	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			46	76	0	0	0	1	0	46	76					T	8143718	C	T	8143718	2	4	48	1	0	0	0	0	0	0	0	1	12821	874	31	1		1	PTPRM	18	8143718	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	188500	8143718	69933530	3844	8312										
PTPRM	5797	broad.mit.edu	37	chr18	8406109	8406109	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcccctcctgttttccaggaTcagtacaagttctgctacga	7	13	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:8406109T>G	ENST00000332175.8	+	31	5345	c.4308T>G	c.(4306-4308)gaT>gaG	p.D1436E	PTPRM_ENST00000400053.4_Missense_Mutation_p.D1374E|PTPRM_ENST00000400060.4_Missense_Mutation_p.D1450E|RP11-789C17.1_ENST00000578897.1_RNA|PTPRM_ENST00000580170.1_Missense_Mutation_p.D1449E|PTPRM_ENST00000444013.1_Missense_Mutation_p.D1223E|RP11-789C17.5_ENST00000579805.1_RNA	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1436	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)				TTTTCCAGGATCAGTACAAGT	0.443																																						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.(4306-4308)gaT>gaG		protein tyrosine phosphatase, receptor type, M							159	138	146					18																	8406109		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.chr18:8406109T>G	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.4308T>G	18.37:g.8406109T>G	ENSP00000331418:p.Asp1436Glu		Somatic				PTPRM_ENST00000400053.4_Missense_Mutation_p.D1374E|PTPRM_ENST00000400060.4_Missense_Mutation_p.D1450E|PTPRM_ENST00000444013.1_Missense_Mutation_p.D1223E|PTPRM_ENST00000580170.1_Missense_Mutation_p.D1449E	p.D1436E	NM_002845.3	NP_002836.3	WXS	Illumina GAIIx	Phase_I	P28827	PTPRM_HUMAN			31	5345	+		Colorectal(10;0.234)	1436			Tyrosine-protein phosphatase 2.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.4308T>G	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	T	5.760	0.324554	0.10900	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	6.17	-2.93	0.05598	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.720518	0.13690	N	0.369595	T	0.48554	0.1506	N	0.01464	-0.85	0.49915	D	0.999837	B;B;B	0.14012	0.001;0.002;0.009	B;B;B	0.21360	0.016;0.019;0.034	T	0.38757	-0.9646	10	0.08179	T	0.78	.	2.6832	0.05100	0.096:0.1837:0.1977:0.5226	.	1223;1449;1436	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	E	1436;1450;1374;1223	ENSP00000331418:D1436E;ENSP00000382933:D1450E;ENSP00000382927:D1374E;ENSP00000387608:D1223E	ENSP00000331418:D1436E	D	+	3	2	PTPRM	8396109	0.987000	0.35691	0.993000	0.49108	0.971000	0.66376	0.044000	0.13992	-0.325000	0.08577	0.533000	0.62120	GAT		0.443	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			14	31	0	0	0	1	0	14	31					G	8406109	T	G	8406109	3	3	48	1	0	0	0	0	1	0	0	0	12821	1432	50	4	4477	4	PTPRM	18	8406109	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	262391	8406109	69671139	3845	8313										
NDUFV2	4729	broad.mit.edu	37	chr18	9134277	9134277	+	Nonstop_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgtacaagcaggcctttaAtttatattgaactgtaaata	8	5	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:9134277A>C	ENST00000318388.6	+	8	864	c.750A>C	c.(748-750)taA>taC	p.*250Y	RP11-143J12.2_ENST00000583081.1_RNA|ANKRD12_ENST00000383440.2_5'Flank|RP11-143J12.2_ENST00000582375.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA|ANKRD12_ENST00000262126.4_5'Flank|NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000608008.1_RNA|NDUFV2_ENST00000400033.1_Nonstop_Mutation_p.*253Y	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	0					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						CAGGCCTTTAATTTATATTGA	0.403																																						ENST00000400033.1																			0				breast(1)|lung(4)|ovary(1)|stomach(1)	7						c.(757-759)taA>taC		NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	NADH(DB00157)						59	62	61					18																	9134277		2203	4300	6503	SO:0001578	stop_lost	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9134277A>C	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7717	protein-coding gene	gene with protein product	"complex I 24kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"	600532	"NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.750A>C	18.37:g.9134277A>C	ENSP00000327268:p.*250Tyrext*?		Somatic				RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|NDUFV2_ENST00000318388.6_Nonstop_Mutation_p.*250Y|RP11-143J12.2_ENST00000582375.1_RNA	p.*253Y			WXS	Illumina GAIIx	Phase_I	P19404	NDUV2_HUMAN			9	876	+			0					Q9BV41	Nonstop_Mutation	SNP	ENST00000318388.6	37	c.759A>C	CCDS11842.1	.	.	.	.	.	.	.	.	.	.	A	18.57	3.651856	0.67472	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.25	0.82478	1.0:0.0:0.0:0.0	.	.	.	.	Y	250;253	.	.	X	+	3	2	NDUFV2	9124277	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	0.922000	0.28734	2.317000	0.78254	0.460000	0.39030	TAA		0.403	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		15	29	0	0	0	1	0	15	29					C	9134277	A	C	9134277	4	2	48	1	0	0	0	0	0	0	0	0	10309	108	4	4	780	4	NDUFV2	18	9134277	Nonstop_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	728168	9134277	68942971	3846	8314										
FAM38B	63895	broad.mit.edu	37	chr18	10671631	10671631	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctccagttctcctgtctctcGaactaaaaaaatatctgtgc	5	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:10671631G>A	ENST00000503781.3	-	52	8151	c.8152C>T	c.(8152-8154)Cga>Tga	p.R2718*	PIEZO2_ENST00000302079.6_Nonsense_Mutation_p.R2655*|PIEZO2_ENST00000580640.1_Nonsense_Mutation_p.R2743*|PIEZO2_ENST00000285141.4_Nonsense_Mutation_p.R510*|PIEZO2_ENST00000538948.1_Nonsense_Mutation_p.R675*|PIEZO2_ENST00000581680.1_5'Flank	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2718			R -> L (in DA5). {ECO:0000269|PubMed:24726473}.|R -> P (in DA5). {ECO:0000269|PubMed:24726473}.		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.R2718R(1)|p.R510R(1)									CCTGTCTCTCGAACTAAAAAA	0.383																																						ENST00000302079.6																			2	Substitution - coding silent(2)	p.R2718R(1)|p.R510R(1)	upper_aerodigestive_tract(2)								c.(7963-7965)Cga>Tga		piezo-type mechanosensitive ion channel component 2							86	83	84					18																	10671631		2203	4300	6503	SO:0001587	stop_gained	63895					integral to membrane	ion channel activity	g.chr18:10671631G>A	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.8152C>T	18.37:g.10671631G>A	ENSP00000421377:p.Arg2718*		Somatic				PIEZO2_ENST00000538948.1_Nonsense_Mutation_p.R675*|PIEZO2_ENST00000503781.3_Nonsense_Mutation_p.R2718*|PIEZO2_ENST00000285141.4_Nonsense_Mutation_p.R510*|PIEZO2_ENST00000580640.1_Nonsense_Mutation_p.R2743*	p.R2655*			WXS	Illumina GAIIx	Phase_I	Q9H5I5	PIEZ2_HUMAN			51	7962	-			2718					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Nonsense_Mutation	SNP	ENST00000503781.3	37	c.7963C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.587838	0.98875	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	.	.	.	5.24	3.21	0.36854	.	0.000000	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7109	0.69232	0.0:0.0:0.6376:0.3624	.	.	.	.	X	612;2718;675;510	.	ENSP00000285141:R510X	R	-	1	2	FAM38B	10661631	1.000000	0.71417	0.972000	0.41901	0.988000	0.76386	4.630000	0.61297	1.193000	0.43086	0.563000	0.77884	CGA		0.383	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		12	22	0	0	0	1	0	12	22					A	10671631	G	A	10671631	4	1	48	1	0	0	0	0	0	1	0	0	5563	1066	37	1	110	1	FAM38B	18	10671631	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1537354	10671631	67405617	3847	8315										
SPIRE1	56907	broad.mit.edu	37	chr18	12512515	12512515	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcgctcttttccatttcttGaatcttcttaagattctaca	3	10	5	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:12512515G>T	ENST00000409402.4	-	5	1012	c.745C>A	c.(745-747)Caa>Aaa	p.Q249K	SPIRE1_ENST00000309836.5_Missense_Mutation_p.Q52K|SPIRE1_ENST00000410092.3_Missense_Mutation_p.Q249K|SPIRE1_ENST00000383356.2_Missense_Mutation_p.Q90K|SPIRE1_ENST00000453447.2_Missense_Mutation_p.Q129K	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						TCCATTTCTTGAATCTTCTTA	0.338																																						ENST00000409402.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						c.(745-747)Caa>Aaa		spire-type actin nucleation factor 1							107	102	103					18																	12512515		2203	4300	6503	SO:0001583	missense	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12512515G>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.745C>A	18.37:g.12512515G>T	ENSP00000387266:p.Gln249Lys		Somatic				SPIRE1_ENST00000410092.3_Missense_Mutation_p.Q249K|SPIRE1_ENST00000383356.2_Missense_Mutation_p.Q90K|SPIRE1_ENST00000309836.5_Missense_Mutation_p.Q52K|SPIRE1_ENST00000453447.2_Missense_Mutation_p.Q129K	p.Q249K	NM_001128626.1	NP_001122098.1	WXS	Illumina GAIIx	Phase_I	Q08AE8	SPIR1_HUMAN			5	1012	-			249		Q -> P (in dbSNP:rs1785296).				Missense_Mutation	SNP	ENST00000409402.4	37	c.745C>A	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844570	0.51164	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356;ENST00000449797	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	5.5	5.5	0.81552	.	0.114255	0.64402	D	0.000009	T	0.24890	0.0604	N	0.15975	0.35	0.58432	D	0.999994	B;B;P	0.34615	0.059;0.036;0.459	B;B;B	0.37833	0.03;0.037;0.259	T	0.03945	-1.0990	10	0.02654	T	1	-19.1973	19.7532	0.96277	0.0:0.0:1.0:0.0	.	249;52;249	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	K	129;249;249;52;90;129	ENSP00000407050:Q129K;ENSP00000387266:Q249K;ENSP00000387226:Q249K;ENSP00000309661:Q52K;ENSP00000372847:Q90K;ENSP00000401392:Q129K	ENSP00000309661:Q52K	Q	-	1	0	SPIRE1	12502515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.142000	0.64820	2.734000	0.93682	0.650000	0.86243	CAA		0.338	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		9	24	1	0	1.58986e-06	1	1.78832e-06	9	24					T	12512515	G	T	12512515	3	4	48	1	0	0	0	0	1	0	0	0	15086	1299	45	2	1577	2	SPIRE1	18	12512515	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1840884	12512515	65564733	3848	8316										
CEP192	55125	broad.mit.edu	37	chr18	13059163	13059163	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacagaagagataaaagtgcTttttataccatccagtcctg	7	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:13059163T>C	ENST00000325971.8	+	19	4145	c.2552T>C	c.(2551-2553)cTt>cCt	p.L851P	CEP192_ENST00000430049.2_Missense_Mutation_p.L972P|CEP192_ENST00000506447.1_Missense_Mutation_p.L1447P			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	851					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATAAAAGTGCTTTTTATACCA	0.413																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4339-4341)cTt>cCt		centrosomal protein 192kDa							146	142	143					18																	13059163		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13059163T>C	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2552T>C	18.37:g.13059163T>C	ENSP00000317156:p.Leu851Pro		Somatic				CEP192_ENST00000430049.2_Missense_Mutation_p.L972P|CEP192_ENST00000325971.8_Missense_Mutation_p.L851P	p.L1447P	NM_032142.3	NP_115518.3	WXS	Illumina GAIIx	Phase_I	B7ZMF0	B7ZMF0_HUMAN			21	4420	+			1042					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.4340T>C		.	.	.	.	.	.	.	.	.	.	T	20.5	4.008358	0.75046	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.26223	1.75;1.75;1.75	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000002	T	0.51770	0.1694	M	0.74881	2.28	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	0.57100	-0.7869	10	0.87932	D	0	-20.3012	15.1474	0.72667	0.0:0.0:0.0:1.0	.	972;1447;851	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	P	1447;851;851;972	ENSP00000427550:L1447P;ENSP00000317156:L851P;ENSP00000389190:L972P	ENSP00000317156:L851P	L	+	2	0	CEP192	13049163	1.000000	0.71417	0.997000	0.53966	0.833000	0.47200	7.426000	0.80270	2.039000	0.60335	0.482000	0.46254	CTT		0.413	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		41	81	0	0	0	1	0	41	81					C	13059163	T	C	13059163	3	2	48	1	0	0	0	0	1	0	0	0	3253	1609	56	4	4418	4	CEP192	18	13059163	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	546648	13059163	65018085	3849	8317										
ESCO1	114799	broad.mit.edu	37	chr18	19144267	19144267	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acttaggcaaagaatgatttCgtggtgtctcccttaaaaaa	8	7	1	2	rs200657231		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:19144267C>T	ENST00000269214.5	-	7	2655	c.1718G>A	c.(1717-1719)cGa>cAa	p.R573Q		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	573					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.R573Q(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						AGAATGATTTCGTGGTGTCTC	0.294																																						ENST00000269214.5																			1	Substitution - Missense(1)	p.R573Q(1)	large_intestine(1)	breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1717-1719)cGa>cAa		establishment of sister chromatid cohesion N-acetyltransferase 1							77	73	74					18																	19144267		2203	4298	6501	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19144267C>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.1718G>A	18.37:g.19144267C>T	ENSP00000269214:p.Arg573Gln		Somatic					p.R573Q	NM_052911.2	NP_443143.2	WXS	Illumina GAIIx	Phase_I	Q5FWF5	ESCO1_HUMAN			7	2655	-			573					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.1718G>A	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395129	0.25205	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.57107	0.42;2.01	4.92	3.06	0.35304	.	0.502328	0.18216	N	0.148031	T	0.28167	0.0695	N	0.08118	0	0.25621	N	0.986406	B	0.12630	0.006	B	0.04013	0.001	T	0.16571	-1.0398	10	0.12766	T	0.61	-3.549	10.2965	0.43627	0.0:0.154:0.6989:0.147	.	573	Q5FWF5	ESCO1_HUMAN	Q	573	ENSP00000269214:R573Q;ENSP00000372763:R573Q	ENSP00000269214:R573Q	R	-	2	0	ESCO1	17398265	1.000000	0.71417	0.998000	0.56505	0.504000	0.33889	1.392000	0.34486	0.552000	0.29026	-0.165000	0.13383	CGA		0.294	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		5	13	0	0	0	1	0	5	13					T	19144267	C	T	19144267	3	4	48	1	0	0	0	0	1	0	0	0	5250	884	31	1	828	1	ESCO1	18	19144267	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	6085104	19144267	58932981	3850	8318										
NPC1	4864	broad.mit.edu	37	chr18	21136259	21136259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaagggtacatcagctcccGaagggtatggctggtaaatg	13	8	1	0	rs140149624		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21136259G>A	ENST00000269228.5	-	8	1828	c.1274C>T	c.(1273-1275)tCg>tTg	p.S425L	NPC1_ENST00000412552.2_Missense_Mutation_p.S175L|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	425					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATCAGCTCCCGAAGGGTATGG	0.498																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	GRCh37	CM053359	NPC1	M	rs140149624	c.(1273-1275)tCg>tTg		Niemann-Pick disease, type C1		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	102	95	97		1274	5.5	0.8	18	dbSNP_134	97	0,8600		0,0,4300	no	missense	NPC1	NM_000271.4	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	425/1279	21136259	1,13005	2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21136259G>A	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1274C>T	18.37:g.21136259G>A	ENSP00000269228:p.Ser425Leu		Somatic				NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.S175L	p.S425L	NM_000271.4	NP_000262.2	WXS	Illumina GAIIx	Phase_I	O15118	NPC1_HUMAN			8	1828	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		425					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.1274C>T	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642493	0.67244	2.27E-4	0.0	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.88586	-2.4;-2.4	5.53	5.53	0.82687	.	0.267174	0.39020	N	0.001492	D	0.83234	0.5210	N	0.20845	0.615	0.40896	D	0.984116	B;B	0.12630	0.002;0.006	B;B	0.09377	0.004;0.004	T	0.77349	-0.2621	10	0.44086	T	0.13	-3.9404	19.8185	0.96581	0.0:0.0:1.0:0.0	.	436;425	Q59GR1;O15118	.;NPC1_HUMAN	L	425;175;270	ENSP00000269228:S425L;ENSP00000408606:S175L	ENSP00000269228:S425L	S	-	2	0	NPC1	19390257	1.000000	0.71417	0.765000	0.31456	0.840000	0.47671	6.959000	0.76031	2.750000	0.94351	0.655000	0.94253	TCG		0.498	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		24	54	0	0	0	1	0	24	54					A	21136259	G	A	21136259	3	1	48	1	0	0	0	0	1	0	0	0	10579	1059	37	1	2634	1	NPC1	18	21136259	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1991992	21136259	56940989	3851	8319										
LAMA3	3909	broad.mit.edu	37	chr18	21330920	21330920	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacggtcgtccaggtgcaaaAaattttactttctctcacac	6	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21330920A>C	ENST00000313654.9	+	5	964	c.723A>C	c.(721-723)aaA>aaC	p.K241N	LAMA3_ENST00000399516.3_Missense_Mutation_p.K241N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	241	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)					CAGGTGCAAAAAATTTTACTT	0.423																																						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.(721-723)aaA>aaC		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						120	119	119					18																	21330920		1867	4096	5963	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21330920A>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.723A>C	18.37:g.21330920A>C	ENSP00000324532:p.Lys241Asn		Somatic				LAMA3_ENST00000399516.3_Missense_Mutation_p.K241N	p.K241N	NM_198129.1	NP_937762.1	WXS	Illumina GAIIx	Phase_I	Q16787	LAMA3_HUMAN			5	964	+	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)		241			Laminin N-terminal.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.723A>C	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.116988	0.37339	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.75704	-0.96;-0.96	5.64	4.48	0.54585	Laminin, N-terminal (3);	.	.	.	.	T	0.52338	0.1728	N	0.16478	0.41	0.80722	D	1	B;P;P	0.42908	0.153;0.793;0.568	B;B;B	0.39258	0.148;0.295;0.156	T	0.47484	-0.9114	9	0.10902	T	0.67	.	7.1825	0.25780	0.7985:0.0:0.0708:0.1306	.	241;241;241	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	N	241	ENSP00000324532:K241N;ENSP00000382432:K241N	ENSP00000324532:K241N	K	+	3	2	LAMA3	19584918	0.997000	0.39634	0.998000	0.56505	0.858000	0.48976	0.624000	0.24462	0.956000	0.37904	0.533000	0.62120	AAA		0.423	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		32	41	0	0	0	1	0	32	41					C	21330920	A	C	21330920	3	2	48	1	0	0	0	0	1	0	0	0	8616	11	1	4	741	4	LAMA3	18	21330920	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	194661	21330920	56746328	3852	8320										
LAMA3	3909	broad.mit.edu	37	chr18	21399891	21399891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acctaatgggagagaccttcGatttggatttgatccgctgg	12	8	0	2	rs200367371		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21399891G>A	ENST00000313654.9	+	19	2475	c.2234G>A	c.(2233-2235)cGa>cAa	p.R745Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.R745Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	745					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.R745Q(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)					AGAGACCTTCGATTTGGATTT	0.443													G|||	1	0.000199681	0	0	5008	,	,		19049	0		0.001	False		,,,				2504	0					ENST00000313654.9																			1	Substitution - Missense(1)	p.R745Q(1)	large_intestine(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.(2233-2235)cGa>cAa		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						139	131	133					18																	21399891		1906	4127	6033	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21399891G>A	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.2234G>A	18.37:g.21399891G>A	ENSP00000324532:p.Arg745Gln		Somatic				LAMA3_ENST00000399516.3_Missense_Mutation_p.R745Q	p.R745Q	NM_198129.1	NP_937762.1	WXS	Illumina GAIIx	Phase_I	Q16787	LAMA3_HUMAN			19	2475	+	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)		745					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.2234G>A	CCDS42419.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	29.8	5.038708	0.93630	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.22743	1.95;1.94	5.47	5.47	0.80525	.	.	.	.	.	T	0.55816	0.1944	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.62737	-0.6791	9	0.59425	D	0.04	.	19.3278	0.94270	0.0:0.0:1.0:0.0	.	745;745	Q6VU67;Q16787	.;LAMA3_HUMAN	Q	745;745;743	ENSP00000324532:R745Q;ENSP00000382432:R745Q	ENSP00000324532:R745Q	R	+	2	0	LAMA3	19653889	1.000000	0.71417	0.972000	0.41901	0.618000	0.37518	9.399000	0.97285	2.579000	0.87056	0.555000	0.69702	CGA		0.443	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		19	39	0	0	0	1	0	19	39					A	21399891	G	A	21399891	3	1	48	1	0	0	0	0	1	0	0	0	8616	1058	37	1	2308	1	LAMA3	18	21399891	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	68971	21399891	56677357	3853	8321										
TTC39C	125488	broad.mit.edu	37	chr18	21644103	21644103	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgtgtgtgtttttttaacaGaaatcatagcccactaatga	8	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21644103G>T	ENST00000317571.3	+	2	403		c.e2-1		TTC39C_ENST00000578150.1_Splice_Site|TTC39C_ENST00000304621.6_Splice_Site	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C											breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TTTTTTAACAGAAATCATAGC	0.294																																						ENST00000317571.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.e2-1		tetratricopeptide repeat domain 39C							138	140	140					18																	21644103		2203	4300	6503	SO:0001630	splice_region_variant	125488						binding	g.chr18:21644103G>T	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"Tetratricopeptide (TTC) repeat domain containing"	26595	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 17"	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.168-1G>T	18.37:g.21644103G>T			Somatic				TTC39C_ENST00000578150.1_Splice_Site|TTC39C_ENST00000304621.6_Splice_Site		NM_001135993.1	NP_001129465.1	WXS	Illumina GAIIx	Phase_I	Q8N584	TT39C_HUMAN			2	403	+								B7WP63|J3QRR1|Q0VAJ2|Q8N284	Splice_Site	SNP	ENST00000317571.3	37		CCDS45839.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515640	0.85389	.	.	ENSG00000168234	ENST00000317571	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3708	0.94484	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC39C	19898101	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.368000	0.97152	2.580000	0.87095	0.650000	0.86243	.		0.294	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211	Intron	22	30	1	0	3.08376e-08	1	3.62155e-08	22	30					T	21644103	G	T	21644103	5	4	48	1	0	0	0	0	0	0	1	0	16724	956	33	2	173	2	TTC39C	18	21644103	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	244212	21644103	56433145	3854	8322										
CABYR	26256	broad.mit.edu	37	chr18	21736538	21736538	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacctctggcatgtctaaaaAatctgtagagtctgtaaaac	7	9	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21736538A>C	ENST00000399481.2	+	2	931	c.779A>C	c.(778-780)aAa>aCa	p.K260T	CABYR_ENST00000399496.3_Intron|CABYR_ENST00000581397.1_Intron|CABYR_ENST00000399499.1_Intron|RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000327201.6_Intron|CABYR_ENST00000415309.2_Intron			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	358					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					ATGTCTAAAAAATCTGTAGAG	0.408																																						ENST00000399481.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11						c.(778-780)aAa>aCa		calcium binding tyrosine-(Y)-phosphorylation regulated							63	69	67					18																	21736538		2203	4300	6503	SO:0001583	missense	26256				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	g.chr18:21736538A>C	AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"fibrousheathin 2", "cancer/testis antigen 88"	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399481.2:c.779A>C	18.37:g.21736538A>C	ENSP00000382404:p.Lys260Thr		Somatic				CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399496.3_Intron|CABYR_ENST00000581397.1_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000327201.6_Intron	p.K260T			WXS	Illumina GAIIx	Phase_I	O75952	CABYR_HUMAN			2	931	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		358					B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Missense_Mutation	SNP	ENST00000399481.2	37	c.779A>C		.	.	.	.	.	.	.	.	.	.	A	7.352	0.623023	0.14193	.	.	ENSG00000154040	ENST00000399481	T	0.25749	1.78	5.05	1.2	0.21068	.	0.645079	0.14988	N	0.286862	T	0.20941	0.0504	L	0.38175	1.15	0.09310	N	1	P;P	0.48016	0.904;0.845	P;B	0.47573	0.55;0.348	T	0.08827	-1.0703	9	.	.	.	0.0679	3.6962	0.08365	0.5692:0.0:0.0926:0.3382	.	340;358	O75952-2;O75952	.;CABYR_HUMAN	T	260	ENSP00000382404:K260T	.	K	+	2	0	CABYR	19990536	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.682000	0.25335	0.051000	0.15978	-0.259000	0.10710	AAA		0.408	CABYR-201	KNOWN	basic	protein_coding	protein_coding		NM_153770		25	62	0	0	0	1	0	25	62					C	21736538	A	C	21736538	3	2	48	1	0	0	0	0	1	0	0	0	2538	14	1	4	1083	4	CABYR	18	21736538	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	92435	21736538	56340710	3855	8323										
OSBPL1A	114876	broad.mit.edu	37	chr18	21819302	21819302	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtctccagtgcttctgacaaGattttgtttttttcttgctc	7	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21819302G>T	ENST00000319481.3	-	16	1532	c.1326C>A	c.(1324-1326)atC>atA	p.I442I	OSBPL1A_ENST00000357041.4_Silent_p.I60I|OSBPL1A_ENST00000399443.3_5'UTR	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	442					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTCTGACAAGATTTTGTTTT	0.443																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1324-1326)atC>atA		oxysterol binding protein-like 1A							81	70	74					18																	21819302		2203	4300	6503	SO:0001819	synonymous_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21819302G>T	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1326C>A	18.37:g.21819302G>T			Somatic				OSBPL1A_ENST00000399443.3_5'UTR|OSBPL1A_ENST00000357041.4_Silent_p.I60I	p.I442I	NM_080597.3	NP_542164.2	WXS	Illumina GAIIx	Phase_I	Q9BXW6	OSBL1_HUMAN			16	1532	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		442					B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	c.1326C>A	CCDS11884.1																																																																																				0.443	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		16	24	1	0	2.23348e-06	1	2.50077e-06	16	24					T	21819302	G	T	21819302	2	4	48	1	0	0	0	0	0	0	0	1	11286	932	33	2		2	OSBPL1A	18	21819302	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	82764	21819302	56257946	3856	8324										
IMPACT	55364	broad.mit.edu	37	chr18	22028085	22028085	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgaggataaacagaccttcTtacaggattgtgaggatgat	12	5	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:22028085T>G	ENST00000284202.4	+	9	838	c.697T>G	c.(697-699)Tta>Gta	p.L233V		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	233					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)					ACAGACCTTCTTACAGGATTG	0.353																																						ENST00000284202.4																			0				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16						c.(697-699)Tta>Gta		impact RWD domain protein							122	115	118					18																	22028085		2203	4300	6503	SO:0001583	missense	55364							g.chr18:22028085T>G	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.697T>G	18.37:g.22028085T>G	ENSP00000284202:p.Leu233Val		Somatic					p.L233V	NM_018439.3	NP_060909.1	WXS	Illumina GAIIx	Phase_I	Q9P2X3	IMPCT_HUMAN			9	838	+	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)		233					A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	c.697T>G	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.317602	0.60524	.	.	ENSG00000154059	ENST00000284202	T	0.31247	1.5	4.38	-0.792	0.10925	Ribosomal protein S5 domain 2-type fold (1);Impact, N-terminal (2);	0.077517	0.52532	D	0.000065	T	0.19406	0.0466	L	0.39692	1.235	0.38682	D	0.952557	P	0.38129	0.619	B	0.40506	0.331	T	0.13495	-1.0507	10	0.16896	T	0.51	.	4.4798	0.11762	0.1469:0.35:0.0:0.5031	.	233	Q9P2X3	IMPCT_HUMAN	V	233	ENSP00000284202:L233V	ENSP00000284202:L233V	L	+	1	2	IMPACT	20282083	0.996000	0.38824	0.986000	0.45419	0.990000	0.78478	0.223000	0.17719	-0.208000	0.10171	0.533000	0.62120	TTA		0.353	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439		6	68	0	0	0	1	0	6	68					G	22028085	T	G	22028085	3	3	48	1	0	0	0	0	1	0	0	0	7733	1606	56	4	731	4	IMPACT	18	22028085	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	208783	22028085	56049163	3857	8325										
TAF4B	6875	broad.mit.edu	37	chr18	23895323	23895323	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catgtaaagatgaaccatttCtttttattggagctctacaa	6	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:23895323C>A	ENST00000269142.5	+	10	2961	c.1963C>A	c.(1963-1965)Ctt>Att	p.L655I	TAF4B_ENST00000578121.1_Missense_Mutation_p.L660I	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	655	Histone-fold.				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)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TGAACCATTTCTTTTTATTGG	0.358																																						ENST00000269142.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29						c.(1963-1965)Ctt>Att		TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa							66	61	63					18																	23895323		1840	4090	5930	SO:0001583	missense	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23895323C>A	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"TATA box binding protein (TBP)-associated factor 4B"	601689	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1963C>A	18.37:g.23895323C>A	ENSP00000269142:p.Leu655Ile		Somatic				TAF4B_ENST00000578121.1_Missense_Mutation_p.L660I	p.L655I	NM_005640.1	NP_005631.1	WXS	Illumina GAIIx	Phase_I	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		10	2961	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		655			Histone-fold.		Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	c.1963C>A	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346669	0.61073	.	.	ENSG00000141384	ENST00000418698;ENST00000269142	T	0.60548	0.18	5.91	5.91	0.95273	Histone-fold (2);Transcription initiation factor TFIID component TAF4 (1);	0.067225	0.64402	D	0.000009	T	0.80899	0.4712	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.81711	-0.0808	10	0.54805	T	0.06	-12.9115	20.2983	0.98569	0.0:1.0:0.0:0.0	.	655;660	Q92750;A4PBF7	TAF4B_HUMAN;.	I	658;655	ENSP00000269142:L655I	ENSP00000269142:L655I	L	+	1	0	TAF4B	22149321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	CTT		0.358	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		12	27	1	0	7.03913e-09	1	8.36985e-09	12	27					A	23895323	C	A	23895323	3	1	48	1	0	0	0	0	1	0	0	0	15542	913	32	2	2001	2	TAF4B	18	23895323	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1867238	23895323	54181925	3858	8326										
CHST9	83539	broad.mit.edu	37	chr18	24496352	24496352	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagcattggttctttcatcGgaagagtgcctatccttaaa	9	8	2	2	rs375278353		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:24496352G>A	ENST00000284224.8	-	6	1480	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Silent_p.S401S|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	401					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTCTTTCATCGGAAGAGTGCC	0.368													G|||	1	0.000199681	0	0	5008	,	,		19833	0.001		0	False		,,,				2504	0					ENST00000284224.8																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28						c.(1201-1203)tcC>tcT		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9		G		0,3682		0,0,1841	146	136	139		1203	-10.8	0.7	18		139	3,8177		0,3,4087	no	coding-synonymous	CHST9	NM_031422.4		0,3,5928	AA,AG,GG		0.0367,0.0,0.0253		401/444	24496352	3,11859	1841	4090	5931	SO:0001819	synonymous_variant	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24496352G>A	AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"Sulfotransferases, membrane-bound"	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1203C>T	18.37:g.24496352G>A			Somatic				CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Silent_p.S401S|AQP4-AS1_ENST00000579964.1_RNA	p.S401S	NM_031422.5	NP_113610.2	WXS	Illumina GAIIx	Phase_I	Q7L1S5	CHST9_HUMAN			6	1480	-	all_lung(6;0.0145)|Ovarian(20;0.124)		401					Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Silent	SNP	ENST00000284224.8	37	c.1203C>T	CCDS42422.1																																																																																				0.368	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		34	77	0	0	0	1	0	34	77					A	24496352	G	A	24496352	2	1	48	1	0	0	0	0	0	0	0	1	3413	1103	39	1		1	CHST9	18	24496352	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	601029	24496352	53580896	3859	8327										
DSC3	1825	broad.mit.edu	37	chr18	28574328	28574328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtcttcattctgattacatCgatgcaatttctgtaaaatt	6	7	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28574328C>T	ENST00000360428.4	-	16	2584	c.2504G>A	c.(2503-2505)cGa>cAa	p.R835Q	DSC3_ENST00000434452.1_3'UTR	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	835					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)			CTGATTACATCGATGCAATTT	0.318																																						ENST00000360428.4																			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.(2503-2505)cGa>cAa		desmocollin 3							44	46	46					18																	28574328		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.chr18:28574328C>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.2504G>A	18.37:g.28574328C>T	ENSP00000353608:p.Arg835Gln		Somatic				DSC3_ENST00000434452.1_3'UTR	p.R835Q	NM_001941.3	NP_001932.2	WXS	Illumina GAIIx	Phase_I	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		16	2584	-			835					A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.2504G>A	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	C	5.919	0.353578	0.11182	.	.	ENSG00000134762	ENST00000360428	T	0.76060	-0.99	4.91	-2.36	0.06663	Cadherin, cytoplasmic domain (1);	1.857230	0.03944	N	0.287320	T	0.43389	0.1245	N	0.01352	-0.895	0.09310	N	1	B	0.13145	0.007	B	0.20184	0.028	T	0.25847	-1.0120	10	0.35671	T	0.21	.	2.8108	0.05441	0.4791:0.1232:0.0652:0.3326	.	835	Q14574	DSC3_HUMAN	Q	835	ENSP00000353608:R835Q	ENSP00000353608:R835Q	R	-	2	0	DSC3	26828326	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	1.095000	0.30964	-0.458000	0.07023	-2.217000	0.00297	CGA		0.318	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		13	23	0	0	0	1	0	13	23					T	28574328	C	T	28574328	3	4	48	1	0	0	0	0	1	0	0	0	4769	884	31	1	190	1	DSC3	18	28574328	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4077976	28574328	49502920	3860	8328										
DSC2	1824	broad.mit.edu	37	chr18	28671063	28671063	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaattggagcccatcttctCttggcgcgccttagaacttt	10	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28671063C>T	ENST00000280904.6	-	4	845	c.402G>A	c.(400-402)aaG>aaA	p.K134K	DSC2_ENST00000251081.6_Silent_p.K134K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	134					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CCCATCTTCTCTTGGCGCGCC	0.388																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(400-402)aaG>aaA		desmocollin 2							129	118	122					18																	28671063		2203	4300	6503	SO:0001819	synonymous_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28671063C>T	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.402G>A	18.37:g.28671063C>T			Somatic				DSC2_ENST00000251081.6_Silent_p.K134K	p.K134K	NM_024422.3	NP_077740.1	WXS	Illumina GAIIx	Phase_I	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		4	845	-			134						Silent	SNP	ENST00000280904.6	37	c.402G>A	CCDS11892.1																																																																																				0.388	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		17	41	0	0	0	1	0	17	41					T	28671063	C	T	28671063	2	4	48	1	0	0	0	0	0	0	0	1	4768	912	32	3		3	DSC2	18	28671063	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	96735	28671063	49406185	3861	8329										
DSC1	1823	broad.mit.edu	37	chr18	28712594	28712594	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttgctgggctatgtcttcTggaaaacatttcttgactgt	9	7	3	1	rs200635848		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28712594T>C	ENST00000257198.5	-	14	2436	c.2175A>G	c.(2173-2175)ccA>ccG	p.P725P	RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Silent_p.P725P	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	725					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTATGTCTTCTGGAAAACATT	0.343													T|||	1	0.000199681	0	0	5008	,	,		17585	0		0.001	False		,,,				2504	0					ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2173-2175)ccA>ccG		desmocollin 1							135	129	131					18																	28712594		2202	4299	6501	SO:0001819	synonymous_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28712594T>C	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2175A>G	18.37:g.28712594T>C			Somatic				DSC1_ENST00000257198.5_Silent_p.P725P|RP11-408H20.2_ENST00000581836.1_RNA	p.P725P	NM_004948.3	NP_004939.1	WXS	Illumina GAIIx	Phase_I	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		14	2436	-			725					Q9HB01	Silent	SNP	ENST00000257198.5	37	c.2175A>G	CCDS11894.1																																																																																				0.343	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		15	37	0	0	0	1	0	15	37					C	28712594	T	C	28712594	2	2	48	1	0	0	0	0	0	0	0	1	4767	1567	55	4		4	DSC1	18	28712594	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	41531	28712594	49364654	3862	8330										
DSC1	1823	broad.mit.edu	37	chr18	28712606	28712606	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtcttctggaaaacatttCttgactgttctcttagcagt	7	8	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28712606C>A	ENST00000257198.5	-	14	2424	c.2163G>T	c.(2161-2163)aaG>aaT	p.K721N	RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.K721N	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	721					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GAAAACATTTCTTGACTGTTC	0.333																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2161-2163)aaG>aaT		desmocollin 1							127	120	122					18																	28712606		2202	4300	6502	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28712606C>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2163G>T	18.37:g.28712606C>A	ENSP00000257198:p.Lys721Asn		Somatic				DSC1_ENST00000257198.5_Missense_Mutation_p.K721N|RP11-408H20.2_ENST00000581836.1_RNA	p.K721N	NM_004948.3	NP_004939.1	WXS	Illumina GAIIx	Phase_I	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		14	2424	-			721					Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.2163G>T	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126352	0.56721	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.60040	0.22;0.25	5.84	2.59	0.31030	.	0.115915	0.38326	N	0.001727	T	0.57184	0.2036	L	0.55481	1.735	0.38332	D	0.943836	P;D	0.53619	0.896;0.961	P;P	0.53224	0.721;0.617	T	0.56950	-0.7894	10	0.45353	T	0.12	.	4.8765	0.13658	0.0:0.2262:0.4144:0.3594	.	721;721	Q08554;Q9HB00	DSC1_HUMAN;.	N	721	ENSP00000257197:K721N;ENSP00000257198:K721N	ENSP00000257197:K721N	K	-	3	2	DSC1	26966604	0.971000	0.33674	0.971000	0.41717	0.613000	0.37349	0.459000	0.21908	0.337000	0.23665	-0.140000	0.14226	AAG		0.333	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		14	35	1	0	0.00185496	1	0.00194308	14	35					A	28712606	C	A	28712606	3	1	48	1	0	0	0	0	1	0	0	0	4767	912	32	2	573	2	DSC1	18	28712606	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	12	28712606	49364642	3863	8331										
DSC1	1823	broad.mit.edu	37	chr18	28720011	28720011	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaaagtacatcaccttaagCcttcaccactggatatttcc	5	12	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28720011C>A	ENST00000257198.5	-	10	1775	c.1514G>T	c.(1513-1515)gGc>gTc	p.G505V	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.G505V	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	505	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCACCTTAAGCCTTCACCACT	0.368																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1513-1515)gGc>gTc		desmocollin 1							73	77	76					18																	28720011		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28720011C>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1514G>T	18.37:g.28720011C>A	ENSP00000257198:p.Gly505Val		Somatic				DSC1_ENST00000257198.5_Missense_Mutation_p.G505V|RP11-408H20.2_ENST00000581836.1_RNA	p.G505V	NM_004948.3	NP_004939.1	WXS	Illumina GAIIx	Phase_I	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		10	1775	-			505			Cadherin 4.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.1514G>T	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739999	0.49045	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.51574	0.7;0.7	5.74	4.86	0.63082	Cadherin (4);Cadherin-like (1);	0.116475	0.38605	N	0.001631	T	0.63486	0.2515	L	0.61036	1.89	0.80722	D	1	D;D	0.69078	0.997;0.991	D;D	0.70016	0.967;0.93	T	0.63786	-0.6558	10	0.54805	T	0.06	.	13.0374	0.58879	0.0:0.9234:0.0:0.0766	.	505;505	Q08554;Q9HB00	DSC1_HUMAN;.	V	505	ENSP00000257197:G505V;ENSP00000257198:G505V	ENSP00000257197:G505V	G	-	2	0	DSC1	26974009	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	3.206000	0.51098	2.714000	0.92807	0.585000	0.79938	GGC		0.368	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		17	40	1	0	3.41278e-10	1	4.16994e-10	17	40					A	28720011	C	A	28720011	3	1	48	1	0	0	0	0	1	0	0	0	4767	739	26	5	1238	5	DSC1	18	28720011	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	7405	28720011	49357237	3864	8332										
DSG4	147409	broad.mit.edu	37	chr18	28968937	28968937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgataacgctccagtcttttCgcaaagtgtatacacagcca	7	11	1	1	rs369555342		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28968937C>T	ENST00000308128.4	+	5	608	c.473C>T	c.(472-474)tCg>tTg	p.S158L	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.S158L|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	158	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		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)	p.S158L(1)		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)			CCAGTCTTTTCGCAAAGTGTA	0.413																																						ENST00000359747.4																			1	Substitution - Missense(1)	p.S158L(1)	large_intestine(1)	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.(472-474)tCg>tTg		desmoglein 4		C	LEU/SER,LEU/SER	0,4406		0,0,2203	104	100	101		473,473	6.1	0.8	18		101	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	DSG4	NM_001134453.1,NM_177986.3	145,145	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	158/1060,158/1041	28968937	1,13003	2203	4299	6502	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28968937C>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.473C>T	18.37:g.28968937C>T	ENSP00000311859:p.Ser158Leu		Somatic				RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.S158L|RP11-534N16.1_ENST00000581856.1_RNA	p.S158L	NM_001134453.1	NP_001127925.1	WXS	Illumina GAIIx	Phase_I	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		5	502	+			158		Missing (in LAH1).	Cadherin 2.		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.473C>T	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263611	0.59431	0.0	1.16E-4	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.61040	0.14;0.14	6.11	6.11	0.99139	Cadherin (3);Cadherin-like (1);	0.242046	0.21442	N	0.074461	T	0.56108	0.1963	M	0.69463	2.115	0.32283	N	0.567384	P;P	0.43431	0.807;0.549	B;B	0.36244	0.22;0.158	T	0.64698	-0.6346	10	0.25106	T	0.35	.	18.9147	0.92501	0.0:1.0:0.0:0.0	.	158;158	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	L	158	ENSP00000311859:S158L;ENSP00000352785:S158L	ENSP00000311859:S158L	S	+	2	0	DSG4	27222935	1.000000	0.71417	0.836000	0.33094	0.845000	0.48019	6.096000	0.71446	2.906000	0.99361	0.655000	0.94253	TCG		0.413	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		26	55	0	0	0	1	0	26	55					T	28968937	C	T	28968937	3	4	48	1	0	0	0	0	1	0	0	0	4781	893	31	1	491	1	DSG4	18	28968937	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	248926	28968937	49108311	3865	8333										
DSG4	147409	broad.mit.edu	37	chr18	28979455	28979455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttattgaattatgtgcttgGcacatatacagccatagatt	7	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28979455G>A	ENST00000308128.4	+	9	1361	c.1226G>A	c.(1225-1227)gGc>gAc	p.G409D	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.G409D|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	409	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			TATGTGCTTGGCACATATACA	0.398																																						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.(1225-1227)gGc>gAc		desmoglein 4							118	117	117					18																	28979455		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28979455G>A	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.1226G>A	18.37:g.28979455G>A	ENSP00000311859:p.Gly409Asp		Somatic				RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.G409D|RP11-534N16.1_ENST00000581856.1_RNA	p.G409D	NM_001134453.1	NP_001127925.1	WXS	Illumina GAIIx	Phase_I	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		9	1255	+			409			Cadherin 4.		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.1226G>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782935	0.70222	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.54071	0.59;0.59	5.33	5.33	0.75918	Cadherin (3);Cadherin-like (1);	0.000000	0.35436	N	0.003201	T	0.73953	0.3653	M	0.83118	2.625	0.42593	D	0.993257	D;D	0.89917	1.0;0.989	D;D	0.97110	1.0;0.978	T	0.77611	-0.2523	10	0.66056	D	0.02	.	14.2577	0.66062	0.0:0.0:0.851:0.149	.	409;409	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	D	409	ENSP00000311859:G409D;ENSP00000352785:G409D	ENSP00000311859:G409D	G	+	2	0	DSG4	27233453	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.503000	0.60407	2.649000	0.89929	0.650000	0.86243	GGC		0.398	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		34	57	0	0	0	1	0	34	57					A	28979455	G	A	28979455	3	1	48	1	0	0	0	0	1	0	0	0	4781	1203	42	3	1260	3	DSG4	18	28979455	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	10518	28979455	49097793	3866	8334										
KIAA1012	22878	broad.mit.edu	37	chr18	29487555	29487555	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attttcctgatttgaagttcTggtgcttccggcggatacct	10	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:29487555T>G	ENST00000283351.4	-	9	1592	c.1257A>C	c.(1255-1257)ccA>ccC	p.P419P	TRAPPC8_ENST00000582539.1_Silent_p.P365P|TRAPPC8_ENST00000582513.1_Silent_p.P419P	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	419					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						TTTGAAGTTCTGGTGCTTCCG	0.328																																						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.(1255-1257)ccA>ccC		trafficking protein particle complex 8							62	62	62					18																	29487555		2203	4300	6503	SO:0001819	synonymous_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29487555T>G	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.1257A>C	18.37:g.29487555T>G			Somatic				TRAPPC8_ENST00000582513.1_Silent_p.P419P|TRAPPC8_ENST00000582539.1_Silent_p.P365P	p.P419P	NM_014939.3	NP_055754.2	WXS	Illumina GAIIx	Phase_I	Q9Y2L5	TPPC8_HUMAN			9	1592	-			419					A0JP15|B3KME5|Q9H0L2	Silent	SNP	ENST00000283351.4	37	c.1257A>C	CCDS11901.1																																																																																				0.328	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		19	16	0	0	0	1	0	19	16					G	29487555	T	G	29487555	2	3	48	1	0	0	0	0	0	0	0	1	8213	1567	55	4		4	KIAA1012	18	29487555	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	508100	29487555	48589693	3867	8335										
MEP1B	4225	broad.mit.edu	37	chr18	29772619	29772619	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttaatcaaagatgtagatggCggaatggaccaggacatatt	11	5	1	2	rs201628805		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:29772619C>T	ENST00000269202.6	+	3	140	c.93C>T	c.(91-93)ggC>ggT	p.G31G	MEP1B_ENST00000581447.1_Silent_p.G31G	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	31					digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATGTAGATGGCGGAATGGACC	0.284																																						ENST00000269202.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(91-93)ggC>ggT		meprin A, beta		C		1,3621		0,1,1810	195	185	188		93	1.3	1	18		188	0,8142		0,0,4071	no	coding-synonymous	MEP1B	NM_005925.2		0,1,5881	TT,TC,CC		0.0,0.0276,0.0085		31/702	29772619	1,11763	1811	4071	5882	SO:0001819	synonymous_variant	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29772619C>T	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.93C>T	18.37:g.29772619C>T			Somatic				MEP1B_ENST00000581447.1_Silent_p.G31G	p.G31G	NM_005925.2	NP_005916.2	WXS	Illumina GAIIx	Phase_I	Q16820	MEP1B_HUMAN			3	140	+			31					B7ZM35|B9EGL6|Q670J1	Silent	SNP	ENST00000269202.6	37	c.93C>T	CCDS45846.1																																																																																				0.284	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		39	74	0	0	0	1	0	39	74					T	29772619	C	T	29772619	2	4	48	1	0	0	0	0	0	0	0	1	9485	755	27	1		1	MEP1B	18	29772619	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	285064	29772619	48304629	3868	8336										
MEP1B	4225	broad.mit.edu	37	chr18	29797891	29797891	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggaagaaatatcgtgaaaGgatgagctcaaatcgaccaa	10	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:29797891G>T	ENST00000269202.6	+	14	2101	c.2054G>T	c.(2053-2055)aGg>aTg	p.R685M	MEP1B_ENST00000581447.1_Missense_Mutation_p.R685M	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	685					digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TATCGTGAAAGGATGAGCTCA	0.398																																						ENST00000269202.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2053-2055)aGg>aTg		meprin A, beta							137	138	138					18																	29797891		1985	4162	6147	SO:0001583	missense	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29797891G>T	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.2054G>T	18.37:g.29797891G>T	ENSP00000269202:p.Arg685Met		Somatic				MEP1B_ENST00000581447.1_Missense_Mutation_p.R685M	p.R685M	NM_005925.2	NP_005916.2	WXS	Illumina GAIIx	Phase_I	Q16820	MEP1B_HUMAN			14	2101	+			685					B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	c.2054G>T	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534684	0.27475	.	.	ENSG00000141434	ENST00000269202	T	0.21734	1.99	4.74	-5.04	0.02964	.	1.210960	0.05333	N	0.528698	T	0.17492	0.0420	L	0.36672	1.1	0.09310	N	1	P	0.39624	0.681	B	0.35971	0.215	T	0.42292	-0.9460	10	0.72032	D	0.01	-0.9884	14.2945	0.66302	0.2647:0.0:0.7353:0.0	.	685	Q16820	MEP1B_HUMAN	M	685	ENSP00000269202:R685M	ENSP00000269202:R685M	R	+	2	0	MEP1B	28051889	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.171000	0.09883	-0.766000	0.04639	-0.444000	0.05651	AGG		0.398	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		22	25	1	0	1.9806e-07	1	2.28356e-07	22	25					T	29797891	G	T	29797891	3	4	48	1	0	0	0	0	1	0	0	0	9485	1000	35	5	2108	5	MEP1B	18	29797891	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	25272	29797891	48279357	3869	8337										
KLHL14	57565	broad.mit.edu	37	chr18	30350502	30350502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggttgaggccgtgcagcaggTtgtcgctgtggctggggtcg	20	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:30350502T>C	ENST00000359358.4	-	2	491	c.53A>G	c.(52-54)aAc>aGc	p.N18S	KLHL14_ENST00000358095.4_Missense_Mutation_p.N18S|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	18						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						GTGCAGCAGGTTGTCGCTGTG	0.632																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(52-54)aAc>aGc		kelch-like family member 14							83	59	67					18																	30350502		2202	4299	6501	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350502T>C	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.53A>G	18.37:g.30350502T>C	ENSP00000352314:p.Asn18Ser		Somatic				AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Missense_Mutation_p.N18S	p.N18S	NM_020805.1	NP_065856.1	WXS	Illumina GAIIx	Phase_I	Q9P2G3	KLH14_HUMAN			2	491	-			18					A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.53A>G	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	T	7.714	0.695776	0.15106	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.21543	2.0;2.0	4.29	3.08	0.35506	BTB/POZ fold (2);	0.338269	0.33401	N	0.004960	T	0.13329	0.0323	L	0.33293	1	0.28769	N	0.900458	B	0.02656	0.0	B	0.01281	0.0	T	0.28744	-1.0034	10	0.10111	T	0.7	.	9.7894	0.40697	0.0:0.0:0.1737:0.8263	.	18	Q9P2G3	KLH14_HUMAN	S	18	ENSP00000352314:N18S;ENSP00000350808:N18S	ENSP00000350808:N18S	N	-	2	0	KLHL14	28604500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.006000	0.70724	0.649000	0.30751	0.377000	0.23210	AAC		0.632	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			38	59	0	0	0	1	0	38	59					C	30350502	T	C	30350502	3	2	48	1	0	0	0	0	1	0	0	0	8379	1725	60	4	1865	4	KLHL14	18	30350502	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	552611	30350502	47726746	3870	8338										
DTNA	1837	broad.mit.edu	37	chr18	32407596	32407596	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcatgaacgacaccctgttCtcccactctgttccctcctc	5	18	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:32407596C>A	ENST00000399113.3	+	10	1050	c.1050C>A	c.(1048-1050)ttC>ttA	p.F350L	DTNA_ENST00000399097.3_Missense_Mutation_p.F29L|DTNA_ENST00000601125.1_Missense_Mutation_p.F29L|DTNA_ENST00000599844.1_Missense_Mutation_p.F29L|DTNA_ENST00000315456.6_Missense_Mutation_p.F350L|DTNA_ENST00000444659.1_Missense_Mutation_p.F350L|DTNA_ENST00000399121.5_Missense_Mutation_p.F347L|DTNA_ENST00000591182.1_Missense_Mutation_p.F29L|DTNA_ENST00000598142.1_Missense_Mutation_p.F350L|DTNA_ENST00000598334.1_Missense_Mutation_p.F347L|DTNA_ENST00000556414.3_Missense_Mutation_p.F29L|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000348997.5_Missense_Mutation_p.F347L|DTNA_ENST00000283365.9_Missense_Mutation_p.F350L|DTNA_ENST00000597674.1_Missense_Mutation_p.F29L|DTNA_ENST00000554864.3_Missense_Mutation_p.F347L|DTNA_ENST00000598774.1_Missense_Mutation_p.F350L|DTNA_ENST00000269190.7_Missense_Mutation_p.F351L|DTNA_ENST00000597599.1_Missense_Mutation_p.F347L|DTNA_ENST00000595022.1_Missense_Mutation_p.F347L|DTNA_ENST00000269192.7_Missense_Mutation_p.F29L|DTNA_ENST00000269191.6_Missense_Mutation_p.F350L			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	350					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						ACACCCTGTTCTCCCACTCTG	0.403																																						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.(1048-1050)ttC>ttA		dystrobrevin, alpha							153	143	146					18																	32407596		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.chr18:32407596C>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.1050C>A	18.37:g.32407596C>A	ENSP00000382064:p.Phe350Leu		Somatic				DTNA_ENST00000556414.3_Missense_Mutation_p.F29L|DTNA_ENST00000591182.1_Missense_Mutation_p.F29L|DTNA_ENST00000598774.1_Missense_Mutation_p.F350L|DTNA_ENST00000315456.6_Missense_Mutation_p.F350L|DTNA_ENST00000601125.1_Missense_Mutation_p.F29L|DTNA_ENST00000597599.1_Missense_Mutation_p.F347L|DTNA_ENST00000399121.5_Missense_Mutation_p.F347L|DTNA_ENST00000348997.5_Missense_Mutation_p.F347L|DTNA_ENST00000599844.1_Missense_Mutation_p.F29L|DTNA_ENST00000444659.1_Missense_Mutation_p.F350L|DTNA_ENST00000597674.1_Missense_Mutation_p.F29L|DTNA_ENST00000269190.7_Missense_Mutation_p.F351L|DTNA_ENST00000269192.7_Missense_Mutation_p.F29L|DTNA_ENST00000595022.1_Missense_Mutation_p.F347L|DTNA_ENST00000399113.3_Missense_Mutation_p.F350L|DTNA_ENST00000399097.3_Missense_Mutation_p.F29L|DTNA_ENST00000598142.1_Missense_Mutation_p.F350L|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000554864.3_Missense_Mutation_p.F347L|DTNA_ENST00000269191.6_Missense_Mutation_p.F350L|DTNA_ENST00000598334.1_Missense_Mutation_p.F347L	p.F350L	NM_032975.3	NP_116757.2	WXS	Illumina GAIIx	Phase_I	Q9Y4J8	DTNA_HUMAN			12	1401	+			350					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.1050C>A	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652730	0.47362	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T;T;T;T	0.16196	2.36;2.49;2.46;2.44;2.47;2.47;2.47	5.77	2.01	0.26516	.	0.050990	0.85682	D	0.000000	T	0.11836	0.0288	N	0.16656	0.425	0.39018	D	0.959695	P;B;P;B;B;B;B;B;B;B;B;B;B;B;B;B	0.44816	0.721;0.003;0.844;0.001;0.0;0.001;0.0;0.001;0.002;0.001;0.0;0.0;0.001;0.001;0.0;0.001	P;B;P;B;B;B;B;B;B;B;B;B;B;B;B;B	0.46917	0.5;0.025;0.531;0.008;0.003;0.008;0.001;0.001;0.006;0.008;0.001;0.001;0.002;0.001;0.0;0.003	T	0.16778	-1.0391	10	0.12766	T	0.61	-24.4665	10.1259	0.42649	0.0:0.7351:0.0:0.2649	.	29;29;97;29;350;350;347;350;29;347;347;358;347;350;350;350	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8-8;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.;.	L	350;350;350;347;347;351;29;347;350;350;350;350;29;29;29	ENSP00000283365:F350L;ENSP00000322519:F350L;ENSP00000269190:F351L;ENSP00000336682:F347L;ENSP00000405819:F350L;ENSP00000269191:F350L;ENSP00000382064:F350L	ENSP00000269190:F351L	F	+	3	2	DTNA	30661594	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	0.865000	0.27940	0.152000	0.19188	-0.137000	0.14449	TTC		0.403	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		29	48	1	0	2.61193e-14	1	3.39424e-14	29	48					A	32407596	C	A	32407596	3	1	48	1	0	0	0	0	1	0	0	0	4790	912	32	2	1088	2	DTNA	18	32407596	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2057094	32407596	45669652	3871	8339										
DTNA	1837	broad.mit.edu	37	chr18	32459636	32459636	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaatccatgcccgaaaaccTgggtacattcacagtggagc	9	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:32459636T>C	ENST00000399113.3	+	19	2034	c.2034T>C	c.(2032-2034)ccT>ccC	p.P678P	DTNA_ENST00000399097.3_Silent_p.P326P|DTNA_ENST00000601125.1_Silent_p.P300P|DTNA_ENST00000444659.1_Silent_p.P678P|DTNA_ENST00000399121.5_Silent_p.P625P|DTNA_ENST00000591182.1_Silent_p.P326P|DTNA_ENST00000598142.1_Silent_p.P621P|DTNA_ENST00000590831.2_Silent_p.P104P|DTNA_ENST00000598334.1_Silent_p.P618P|DTNA_ENST00000556414.3_Silent_p.P330P|DTNA_ENST00000283365.9_Silent_p.P621P|DTNA_ENST00000269190.7_Silent_p.P679P|DTNA_ENST00000595022.1_Silent_p.P618P|DTNA_ENST00000269192.7_Silent_p.P387P			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	678					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						CCCGAAAACCTGGGTACATTC	0.458																																						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.(1861-1863)ccT>ccC		dystrobrevin, alpha							82	76	78					18																	32459636		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.chr18:32459636T>C	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.2034T>C	18.37:g.32459636T>C			Somatic				DTNA_ENST00000590831.2_Silent_p.P104P|DTNA_ENST00000556414.3_Silent_p.P330P|DTNA_ENST00000591182.1_Silent_p.P326P|DTNA_ENST00000601125.1_Silent_p.P300P|DTNA_ENST00000399121.5_Silent_p.P625P|DTNA_ENST00000444659.1_Silent_p.P678P|DTNA_ENST00000269190.7_Silent_p.P679P|DTNA_ENST00000269192.7_Silent_p.P387P|DTNA_ENST00000595022.1_Silent_p.P618P|DTNA_ENST00000399113.3_Silent_p.P678P|DTNA_ENST00000399097.3_Silent_p.P326P|DTNA_ENST00000598142.1_Silent_p.P621P|DTNA_ENST00000598334.1_Silent_p.P618P	p.P621P	NM_032975.3	NP_116757.2	WXS	Illumina GAIIx	Phase_I	Q9Y4J8	DTNA_HUMAN			19	2214	+			678					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.1863T>C	CCDS59311.1																																																																																				0.458	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		18	27	0	0	0	1	0	18	27					C	32459636	T	C	32459636	2	2	48	1	0	0	0	0	0	0	0	1	4790	1567	55	4		4	DTNA	18	32459636	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	52040	32459636	45617612	3872	8340										
ZNF397OS	100101467	broad.mit.edu	37	chr18	32844236	32844236	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctggtccaaaacataattTtcttcttcaaccttgacaac	3	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:32844236T>A	ENST00000420878.3	-	3	536	c.81A>T	c.(79-81)gaA>gaT	p.E27D	ZSCAN30_ENST00000589178.1_Missense_Mutation_p.E27D|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.E27D|ZSCAN30_ENST00000383091.2_Missense_Mutation_p.E27D|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000601405.1_Missense_Mutation_p.E27D|ZSCAN30_ENST00000592278.1_Missense_Mutation_p.E27D	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	27					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(3)|urinary_tract(1)	9						AAACATAATTTTCTTCTTCAA	0.488																																						ENST00000420878.3																			0				large_intestine(5)|lung(3)|urinary_tract(1)	9						c.(79-81)gaA>gaT		zinc finger and SCAN domain containing 30							50	50	50					18																	32844236		1568	3582	5150	SO:0001583	missense	100101467				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32844236T>A	AY234408	CCDS42427.1, CCDS74207.1	18q12.2	2013-01-08	2010-07-23	2010-07-23	ENSG00000186814	ENSG00000186814		"-", "Zinc fingers, C2H2-type"	33517	protein-coding gene	gene with protein product			"zinc finger protein 397 opposite strand", "ZNF397 opposite strand"	ZNF397OS		12801647	Standard	NM_001166012		Approved	ZNF917	uc002kym.3	Q86W11		ENST00000420878.3:c.81A>T	18.37:g.32844236T>A	ENSP00000392371:p.Glu27Asp		Somatic				ZSCAN30_ENST00000589178.1_Missense_Mutation_p.E27D|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000592278.1_Missense_Mutation_p.E27D|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.E27D|ZSCAN30_ENST00000383091.2_Missense_Mutation_p.E27D|ZSCAN30_ENST00000601405.1_Missense_Mutation_p.E27D	p.E27D	NM_001166012.1	NP_001159484.1	WXS	Illumina GAIIx	Phase_I	Q86W11	ZSC30_HUMAN			3	536	-			27					B4E0N0|Q6ZNB3|Q96PN3	Missense_Mutation	SNP	ENST00000420878.3	37	c.81A>T	CCDS42427.1	.	.	.	.	.	.	.	.	.	.	T	9.110	1.006301	0.19199	.	.	ENSG00000186814	ENST00000420878;ENST00000333206;ENST00000383091	T;T;T	0.08102	3.13;3.13;4.16	4.49	-3.53	0.04667	.	.	.	.	.	T	0.05273	0.0140	N	0.20304	0.555	0.22500	N	0.999048	P;P	0.52842	0.818;0.956	B;B	0.43123	0.219;0.409	T	0.39251	-0.9623	9	0.20046	T	0.44	.	10.81	0.46540	0.0:0.1337:0.0:0.8663	.	27;27	C9JCM2;Q86W11	.;ZSC30_HUMAN	D	27	ENSP00000392371:E27D;ENSP00000329738:E27D;ENSP00000372569:E27D	ENSP00000329738:E27D	E	-	3	2	ZSCAN30	31098234	0.001000	0.12720	0.392000	0.26245	0.926000	0.56050	-1.310000	0.02725	-0.605000	0.05753	-0.261000	0.10672	GAA		0.488	ZSCAN30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442510.1	NM_001112734		23	33	0	0	0	1	0	23	33					A	32844236	T	A	32844236	3	1	48	1	0	0	0	0	1	0	0	0	17899	1838	64	4	1415	4	ZNF397OS	18	32844236	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	384600	32844236	45233012	3873	8341										
ZNF396	252884	broad.mit.edu	37	chr18	32949295	32949295	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcaccagtatgggttcgtcGatgctgaatcagaattgcgc	11	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:32949295G>A	ENST00000589332.1	-	4	1023	c.892C>T	c.(892-894)Cga>Tga	p.R298*	ZNF396_ENST00000306346.1_Nonsense_Mutation_p.R298*			Q96N95	ZN396_HUMAN	zinc finger protein 396	298					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						TGGGTTCGTCGATGCTGAATC	0.438																																						ENST00000306346.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(892-894)Cga>Tga		zinc finger protein 396							90	87	88					18																	32949295		2203	4300	6503	SO:0001587	stop_gained	252884				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32949295G>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.892C>T	18.37:g.32949295G>A	ENSP00000466500:p.Arg298*		Somatic				ZNF396_ENST00000589332.1_Nonsense_Mutation_p.R298*	p.R298*	NM_145756.2	NP_665699.1	WXS	Illumina GAIIx	Phase_I	Q96N95	ZN396_HUMAN			4	1023	-			298					A1L3V0|Q8NF98|Q8TD80	Nonsense_Mutation	SNP	ENST00000589332.1	37	c.892C>T		.	.	.	.	.	.	.	.	.	.	G	15.83	2.947609	0.53186	.	.	ENSG00000186496	ENST00000306346;ENST00000399057	.	.	.	3.96	1.07	0.20283	.	0.578688	0.13014	U	0.420648	.	.	.	.	.	.	0.21290	N	0.99973	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	4.7117	0.12875	0.2063:0.0:0.6165:0.1771	.	.	.	.	X	298	.	ENSP00000302310:R298X	R	-	1	2	ZNF396	31203293	0.070000	0.21116	0.692000	0.30179	0.227000	0.25037	0.424000	0.21330	0.416000	0.25844	0.650000	0.86243	CGA		0.438	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756		4	38	0	0	0	1	0	4	38					A	32949295	G	A	32949295	4	1	48	1	0	0	0	0	0	1	0	0	17897	1066	37	1	117	1	ZNF396	18	32949295	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	105059	32949295	45127953	3874	8342										
FHOD3	80206	broad.mit.edu	37	chr18	34298177	34298177	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaacagcgccggtgcagccGaagacagagtctgattacat	12	10	1	3	rs369638305		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:34298177G>A	ENST00000359247.4	+	15	2340	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P	FHOD3_ENST00000445677.1_Silent_p.P759P|FHOD3_ENST00000590592.1_Silent_p.P972P|FHOD3_ENST00000592128.1_5'Flank|FHOD3_ENST00000257209.4_Silent_p.P797P|FHOD3_ENST00000591635.1_Intron	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	780					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGGTGCAGCCGAAGACAGAGT	0.537																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(2389-2391)ccG>ccA		formin homology 2 domain containing 3		G		1,4405	2.1+/-5.4	0,1,2202	80	81	80		2391	-9.3	0	18		80	0,8600		0,0,4300	no	coding-synonymous	FHOD3	NM_025135.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		797/1440	34298177	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34298177G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2340G>A	18.37:g.34298177G>A			Somatic				FHOD3_ENST00000590592.1_Silent_p.P972P|FHOD3_ENST00000359247.4_Silent_p.P780P|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Silent_p.P759P	p.P797P	NM_025135.2	NP_079411.2	WXS	Illumina GAIIx	Phase_I	Q2V2M9	FHOD3_HUMAN			16	2513	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	780					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Silent	SNP	ENST00000359247.4	37	c.2391G>A																																																																																					0.537	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		30	52	0	0	0	1	0	30	52					A	34298177	G	A	34298177	2	1	48	1	0	0	0	0	0	0	0	1	5891	1045	37	1		1	FHOD3	18	34298177	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1348882	34298177	43779071	3875	8343										
PIK3C3	5289	broad.mit.edu	37	chr18	39567792	39567792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcagctcaccaaagctcatcGacaaggacacatggtgaaag	10	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:39567792G>A	ENST00000262039.4	+	5	634	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	PIK3C3_ENST00000398870.3_Missense_Mutation_p.R120Q	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	183	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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						AAAGCTCATCGACAAGGACAC	0.328										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.(547-549)cGa>cAa		phosphatidylinositol 3-kinase, catalytic subunit type 3							103	104	104					18																	39567792		2203	4300	6503	SO:0001583	missense	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.chr18:39567792G>A	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.548G>A	18.37:g.39567792G>A	ENSP00000262039:p.Arg183Gln	TSP Lung(28;0.18)	Somatic				PIK3C3_ENST00000398870.3_Missense_Mutation_p.R120Q	p.R183Q	NM_002647.2	NP_002638.2	WXS	Illumina GAIIx	Phase_I	Q8NEB9	PK3C3_HUMAN			5	634	+			183					Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.548G>A	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450784	0.84101	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.75704	-0.96;-0.96	5.66	5.66	0.87406	Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.68247	0.2980	L	0.48986	1.54	0.80722	D	1	P;P	0.43412	0.69;0.806	B;B	0.33690	0.168;0.168	T	0.68731	-0.5331	9	.	.	.	.	20.1041	0.97884	0.0:0.0:1.0:0.0	.	120;183	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	Q	183;120	ENSP00000262039:R183Q;ENSP00000381845:R120Q	.	R	+	2	0	PIK3C3	37821790	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.781000	0.99029	2.826000	0.97356	0.655000	0.94253	CGA		0.328	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		14	45	0	0	0	1	0	14	45					A	39567792	G	A	39567792	3	1	48	1	0	0	0	0	1	0	0	0	11921	1058	37	1	566	1	PIK3C3	18	39567792	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5269615	39567792	38509456	3876	8344										
PIK3C3	5289	broad.mit.edu	37	chr18	39617746	39617746	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atggagatgatttacgtcaaGatcaacttattcttcaaatc	6	7	4	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:39617746G>T	ENST00000262039.4	+	17	2016	c.1930G>T	c.(1930-1932)Gat>Tat	p.D644Y	PIK3C3_ENST00000587402.1_5'UTR|PIK3C3_ENST00000593098.1_Missense_Mutation_p.D129Y|PIK3C3_ENST00000398870.3_Missense_Mutation_p.D581Y|PIK3C3_ENST00000589056.1_5'UTR	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	644	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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						TTTACGTCAAGATCAACTTAT	0.373										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.(1930-1932)Gat>Tat		phosphatidylinositol 3-kinase, catalytic subunit type 3							195	181	186					18																	39617746		2203	4300	6503	SO:0001583	missense	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.chr18:39617746G>T	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.1930G>T	18.37:g.39617746G>T	ENSP00000262039:p.Asp644Tyr	TSP Lung(28;0.18)	Somatic				PIK3C3_ENST00000587402.1_5'UTR|PIK3C3_ENST00000589056.1_5'UTR|PIK3C3_ENST00000398870.3_Missense_Mutation_p.D581Y|PIK3C3_ENST00000593098.1_Missense_Mutation_p.D129Y	p.D644Y	NM_002647.2	NP_002638.2	WXS	Illumina GAIIx	Phase_I	Q8NEB9	PK3C3_HUMAN			17	2016	+			644			PI3K/PI4K.		Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.1930G>T	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725146	0.89298	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.89746	-2.56;-2.56	5.91	5.91	0.95273	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.97393	0.9147	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	0.98393	1.0564	9	.	.	.	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	581;581;644	A8MYT4;B4DPV9;Q8NEB9	.;.;PK3C3_HUMAN	Y	644;581	ENSP00000262039:D644Y;ENSP00000381845:D581Y	.	D	+	1	0	PIK3C3	37871744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.405000	0.97313	2.813000	0.96785	0.655000	0.94253	GAT		0.373	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		34	89	1	0	1.61788e-16	1	2.15322e-16	34	89					T	39617746	G	T	39617746	3	4	48	1	0	0	0	0	1	0	0	0	11921	942	33	2	1996	2	PIK3C3	18	39617746	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	49954	39617746	38459502	3877	8345										
SYT4	6860	broad.mit.edu	37	chr18	40851677	40851677	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatttcagaagcattcttacCtgaaagtccggacacatcag	7	10	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:40851677C>A	ENST00000255224.3	-	3	1338	c.970G>T	c.(970-972)Gat>Tat	p.D324Y	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Splice_Site_p.D306Y	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	324	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						GCATTCTTACCTGAAAGTCCG	0.393																																					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.e3+1		synaptotagmin IV							111	106	108					18																	40851677		2203	4300	6503	SO:0001630	splice_region_variant	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40851677C>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.970+1G>T	18.37:g.40851677C>A			Somatic				SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Splice_Site_p.D306_splice	p.D324_splice	NM_020783.3	NP_065834.1	WXS	Illumina GAIIx	Phase_I	Q9H2B2	SYT4_HUMAN			3	1338	-			324			C2 2.		B4DEU3|Q9P2K4	Splice_Site	SNP	ENST00000255224.3	37	c.970_splice	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157677	0.94686	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.81078	-1.45	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	0.85682	D	0.000000	D	0.93749	0.8002	H	0.97214	3.96	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70487	0.969;0.969	D	0.95415	0.8502	9	.	.	.	.	19.8176	0.96576	0.0:1.0:0.0:0.0	.	306;324	B4DEU3;Q9H2B2	.;SYT4_HUMAN	Y	324;129	ENSP00000255224:D324Y	.	D	-	1	0	SYT4	39105675	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.512000	0.81728	2.765000	0.95021	0.650000	0.86243	GAT		0.393	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783	Missense_Mutation	16	35	1	0	1.15088e-07	1	1.32965e-07	16	35					A	40851677	C	A	40851677	5	1	48	1	0	0	0	0	0	0	1	0	15491	695	24	5	315	5	SYT4	18	40851677	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1233931	40851677	37225571	3878	8346										
KIAA1632	57724	broad.mit.edu	37	chr18	43523145	43523145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acctgatcatataaccaattCgcttcacaaactgcctatag	4	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:43523145C>T	ENST00000282041.5	-	9	1959	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	642					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						ATAACCAATTCGCTTCACAAA	0.433																																						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.(1924-1926)cGa>cAa		ectopic P-granules autophagy protein 5 homolog (C. elegans)							160	156	157					18																	43523145		1908	4117	6025	SO:0001583	missense	57724				autophagy			g.chr18:43523145C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1925G>A	18.37:g.43523145C>T	ENSP00000282041:p.Arg642Gln		Somatic					p.R642Q	NM_020964.2	NP_066015.2	WXS	Illumina GAIIx	Phase_I	Q9HCE0	EPG5_HUMAN			9	1959	-			642					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.1925G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	35	5.503237	0.96371	.	.	ENSG00000152223	ENST00000282041	T	0.13196	2.61	5.53	5.53	0.82687	.	0.060132	0.64402	D	0.000004	T	0.39279	0.1072	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.11690	-1.0577	10	0.87932	D	0	-7.1625	19.4587	0.94906	0.0:1.0:0.0:0.0	.	642;642	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	Q	642	ENSP00000282041:R642Q	ENSP00000282041:R642Q	R	-	2	0	EPG5	41777143	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.601000	0.82783	2.593000	0.87608	0.455000	0.32223	CGA		0.433	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		37	73	0	0	0	1	0	37	73					T	43523145	C	T	43523145	3	4	48	1	0	0	0	0	1	0	0	0	8258	884	31	1	5958	1	KIAA1632	18	43523145	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2671468	43523145	34554103	3879	8347										
DYM	54808	broad.mit.edu	37	chr18	46570519	46570519	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagaccagacataggggataAaaaactcctcgggctgctcc	11	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:46570519A>C	ENST00000269445.6	-	17	2373	c.1916T>G	c.(1915-1917)tTt>tGt	p.F639C	DYM_ENST00000442713.2_Missense_Mutation_p.F449C|RP11-15F12.1_ENST00000584252.1_RNA	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	639					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						ATAGGGGATAAAAAACTCCTC	0.443																																						ENST00000269445.6																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1915-1917)tTt>tGt		dymeclin							126	139	135					18																	46570519		2203	4300	6503	SO:0001583	missense	54808					Golgi apparatus		g.chr18:46570519A>C	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1916T>G	18.37:g.46570519A>C	ENSP00000269445:p.Phe639Cys		Somatic				RP11-15F12.1_ENST00000584252.1_RNA|DYM_ENST00000442713.2_Missense_Mutation_p.F449C	p.F639C	NM_017653.3	NP_060123.3	WXS	Illumina GAIIx	Phase_I	Q7RTS9	DYM_HUMAN			17	2373	-			639					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	ENST00000269445.6	37	c.1916T>G	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.455008	0.84209	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	D;D	0.93659	-3.26;-3.26	5.91	5.91	0.95273	.	0.060581	0.64402	D	0.000003	D	0.96950	0.9004	M	0.84948	2.725	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.992;0.997	D	0.97553	1.0093	10	0.87932	D	0	-21.9725	16.0218	0.80503	1.0:0.0:0.0:0.0	.	449;639	Q7RTS9-2;Q7RTS9	.;DYM_HUMAN	C	449;639	ENSP00000395942:F449C;ENSP00000269445:F639C	ENSP00000269445:F639C	F	-	2	0	DYM	44824517	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	9.117000	0.94347	2.254000	0.74563	0.533000	0.62120	TTT		0.443	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		66	118	0	0	0	1	0	66	118					C	46570519	A	C	46570519	3	2	48	1	0	0	0	0	1	0	0	0	4842	14	1	4	97	4	DYM	18	46570519	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	3047374	46570519	31506729	3880	8348										
MYO5B	4645	broad.mit.edu	37	chr18	47404165	47404165	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagggcatcctcagtgtctcCgatctcagatgtggagatgg	14	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:47404165C>T	ENST00000285039.7	-	25	3663	c.3364G>A	c.(3364-3366)Gga>Aga	p.G1122R	MYO5B_ENST00000324581.6_Missense_Mutation_p.G263R|MYO5B_ENST00000587895.1_5'Flank	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1122					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)		TCAGTGTCTCCGATCTCAGAT	0.507																																						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.(3364-3366)Gga>Aga		myosin VB							181	179	179					18																	47404165		1985	4169	6154	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47404165C>T	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.3364G>A	18.37:g.47404165C>T	ENSP00000285039:p.Gly1122Arg		Somatic				MYO5B_ENST00000324581.6_Missense_Mutation_p.G263R	p.G1122R	NM_001080467.2	NP_001073936.1	WXS	Illumina GAIIx	Phase_I	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	25	3663	-			1122					B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.3364G>A	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234388	0.79800	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.18338	2.22;2.22	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	N	0.08118	0	0.80722	D	1	P;D	0.89917	0.679;1.0	B;D	0.97110	0.111;1.0	T	0.26395	-1.0104	10	0.25106	T	0.35	.	19.8926	0.96935	0.0:1.0:0.0:0.0	.	1122;263	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	R	1122;263	ENSP00000285039:G1122R;ENSP00000315531:G263R	ENSP00000285039:G1122R	G	-	1	0	MYO5B	45658163	1.000000	0.71417	0.981000	0.43875	0.328000	0.28507	5.470000	0.66756	2.806000	0.96561	0.655000	0.94253	GGA		0.507	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			31	47	0	0	0	1	0	31	47					T	47404165	C	T	47404165	3	4	48	1	0	0	0	0	1	0	0	0	10088	661	23	1	2246	1	MYO5B	18	47404165	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	833646	47404165	30673083	3881	8349										
CXXC1	30827	broad.mit.edu	37	chr18	47809356	47809356	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcacgtacaagggggcacccGcatacctcgtcagctggcac	11	15	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:47809356G>A	ENST00000285106.6	-	14	2406	c.1692C>T	c.(1690-1692)tgC>tgT	p.C564C	MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000398488.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000590208.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.A552V|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000591535.1_5'Flank|MBD1_ENST00000398495.2_5'Flank|MBD1_ENST00000424334.2_5'Flank|MBD1_ENST00000588937.1_5'Flank|CXXC1_ENST00000412036.2_Silent_p.C568C|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000436910.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	564					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GGGGGCACCCGCATACCTCGT	0.592																																						ENST00000589940.1																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1654-1656)gCg>gTg		CXXC finger protein 1							53	54	53					18																	47809356		2203	4300	6503	SO:0001819	synonymous_variant	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.chr18:47809356G>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.1692C>T	18.37:g.47809356G>A			Somatic				CXXC1_ENST00000412036.2_Silent_p.C568C|CXXC1_ENST00000285106.6_Silent_p.C564C	p.A552V			WXS	Illumina GAIIx	Phase_I	Q9P0U4	CXXC1_HUMAN			14	1716	-			0					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.1655C>T	CCDS11945.1																																																																																				0.592	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		23	46	0	0	0	1	0	23	46					A	47809356	G	A	47809356	2	1	48	1	0	0	0	0	0	0	0	1	4099	1079	38	1		1	CXXC1	18	47809356	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	405191	47809356	30267892	3882	8350										
MAPK4	5596	broad.mit.edu	37	chr18	48252489	48252489	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaggatgagatcgacgacatCgtgctgatggccgctaacca	13	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:48252489C>T	ENST00000400384.2	+	5	2047	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Silent_p.I126I	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	337					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.I337I(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TCGACGACATCGTGCTGATGG	0.602																																						ENST00000400384.2																			1	Substitution - coding silent(1)	p.I337I(1)	large_intestine(1)	lung(4)|skin(3)|upper_aerodigestive_tract(1)	8						c.(1009-1011)atC>atT		mitogen-activated protein kinase 4							92	95	94					18																	48252489		2132	4235	6367	SO:0001819	synonymous_variant	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48252489C>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"Mitogen-activated protein kinase cascade / Kinases"	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.1011C>T	18.37:g.48252489C>T			Somatic				MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Silent_p.I126I	p.I337I	NM_002747.3	NP_002738.2	WXS	Illumina GAIIx	Phase_I	P31152	MK04_HUMAN		Colorectal(21;0.156)	5	2047	+		Colorectal(6;0.0297)	337					A1A4C4|Q0VG04	Silent	SNP	ENST00000400384.2	37	c.1011C>T	CCDS42437.1																																																																																				0.602	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		34	64	0	0	0	1	0	34	64					T	48252489	C	T	48252489	2	4	48	1	0	0	0	0	0	0	0	1	9289	874	31	1		1	MAPK4	18	48252489	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	443133	48252489	29824759	3883	8351										
ME2	4200	broad.mit.edu	37	chr18	48446854	48446854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaacacactcattcagttcGaagactttggaaatcataat	7	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:48446854G>A	ENST00000321341.5	+	8	1035	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	ME2_ENST00000382927.3_Missense_Mutation_p.E255K	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	255					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		CATTCAGTTCGAAGACTTTGG	0.338																																						ENST00000321341.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(763-765)Gaa>Aaa		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						82	79	80					18																	48446854		2203	4300	6503	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48446854G>A	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.763G>A	18.37:g.48446854G>A	ENSP00000321070:p.Glu255Lys		Somatic				ME2_ENST00000382927.3_Missense_Mutation_p.E255K	p.E255K	NM_002396.4	NP_002387.1	WXS	Illumina GAIIx	Phase_I	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	8	1035	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	255					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.763G>A	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.792285	0.70452	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.69926	-0.44;-0.44	5.75	4.88	0.63580	Malic enzyme, N-terminal (2);	0.093379	0.64402	D	0.000001	D	0.84817	0.5556	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88209	0.2889	10	0.87932	D	0	-32.7179	13.8913	0.63740	0.0746:0.0:0.9254:0.0	.	255;255	Q9BWL6;P23368	.;MAOM_HUMAN	K	255	ENSP00000321070:E255K;ENSP00000372384:E255K	ENSP00000321070:E255K	E	+	1	0	ME2	46700852	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	9.843000	0.99491	1.446000	0.47643	-0.157000	0.13467	GAA		0.338	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		8	23	0	0	0	1	0	8	23					A	48446854	G	A	48446854	3	1	48	1	0	0	0	0	1	0	0	0	9427	1059	37	1	789	1	ME2	18	48446854	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	194365	48446854	29630394	3884	8352										
DCC	1630	broad.mit.edu	37	chr18	49867163	49867163	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgttggctgaaatatggaGaatagtcttagatgtgtttg	14	2	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:49867163G>T	ENST00000442544.2	+	1	622	c.6G>T	c.(4-6)gaG>gaT	p.E2D	RP11-25O3.1_ENST00000582700.1_lincRNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	2					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAAATATGGAGAATAGTCTTA	0.542																																						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.(4-6)gaG>gaT		deleted in colorectal carcinoma							253	205	222					18																	49867163		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:49867163G>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.6G>T	18.37:g.49867163G>T	ENSP00000389140:p.Glu2Asp		Somatic					p.E2D	NM_005215.3	NP_005206.2	WXS	Illumina GAIIx	Phase_I	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	1	622	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	2						Missense_Mutation	SNP	ENST00000442544.2	37	c.6G>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.720884	0.68959	.	.	ENSG00000187323	ENST00000442544	T	0.51574	0.7	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000017	T	0.49541	0.1563	N	0.08118	0	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.60068	-0.7335	10	0.87932	D	0	.	18.6711	0.91512	0.0:0.0:1.0:0.0	.	2	P43146	DCC_HUMAN	D	2	ENSP00000389140:E2D	ENSP00000389140:E2D	E	+	3	2	DCC	48121161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.899000	0.69846	2.709000	0.92574	0.561000	0.74099	GAG		0.542	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		37	91	1	0	5.71845e-15	1	7.50055e-15	37	91					T	49867163	G	T	49867163	3	4	48	1	0	0	0	0	1	0	0	0	4284	933	33	2	8	2	DCC	18	49867163	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1420309	49867163	28210085	3885	8353										
DCC	1630	broad.mit.edu	37	chr18	50278454	50278454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaagctttcacagcactgcGcttcctctcagaaccttctg	6	14	3	1	rs202005334		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50278454G>A	ENST00000442544.2	+	2	738	c.122G>A	c.(121-123)cGc>cAc	p.R41H	DCC_ENST00000412726.1_5'Flank	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	41	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACAGCACTGCGCTTCCTCTCA	0.483																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(121-123)cGc>cAc		deleted in colorectal carcinoma							50	51	51					18																	50278454		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50278454G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.122G>A	18.37:g.50278454G>A	ENSP00000389140:p.Arg41His		Somatic					p.R41H	NM_005215.3	NP_005206.2	WXS	Illumina GAIIx	Phase_I	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	2	738	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	41			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000442544.2	37	c.122G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941259	0.34283	.	.	ENSG00000187323	ENST00000442544	T	0.53857	0.6	5.81	-4.16	0.03869	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.708739	0.13640	N	0.373061	T	0.35941	0.0949	L	0.36672	1.1	0.80722	D	1	B	0.18461	0.028	B	0.16289	0.015	T	0.19095	-1.0316	10	0.14656	T	0.56	.	12.6783	0.56908	0.5748:0.0:0.4252:0.0	.	41	P43146	DCC_HUMAN	H	41	ENSP00000389140:R41H	ENSP00000389140:R41H	R	+	2	0	DCC	48532452	0.001000	0.12720	0.678000	0.29963	0.995000	0.86356	-0.686000	0.05161	-1.382000	0.02109	-0.126000	0.14955	CGC		0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		13	17	0	0	0	1	0	13	17					A	50278454	G	A	50278454	3	1	48	1	0	0	0	0	1	0	0	0	4284	1087	38	1	128	1	DCC	18	50278454	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	411291	50278454	27798794	3886	8354										
DCC	1630	broad.mit.edu	37	chr18	50432692	50432692	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgaagcagaagtcagaattTtatcaggtattgcaatgctc	9	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50432692T>G	ENST00000442544.2	+	3	1307	c.691T>G	c.(691-693)Tta>Gta	p.L231V	DCC_ENST00000412726.1_Missense_Mutation_p.L79V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	231					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)		AGTCAGAATTTTATCAGGTAT	0.383																																						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.(691-693)Tta>Gta		deleted in colorectal carcinoma							82	83	82					18																	50432692		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50432692T>G	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.691T>G	18.37:g.50432692T>G	ENSP00000389140:p.Leu231Val		Somatic				DCC_ENST00000412726.1_Missense_Mutation_p.L79V	p.L231V	NM_005215.3	NP_005206.2	WXS	Illumina GAIIx	Phase_I	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	3	1307	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	231						Missense_Mutation	SNP	ENST00000442544.2	37	c.691T>G	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.778246	0.31502	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.40756	1.02;1.02	5.93	2.35	0.29111	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000015	T	0.33323	0.0859	L	0.49778	1.585	0.80722	D	1	B;B	0.25235	0.0;0.121	B;B	0.24269	0.007;0.052	T	0.06954	-1.0798	10	0.36615	T	0.2	.	7.9179	0.29829	0.0:0.3387:0.0:0.6612	.	79;231	E7EQM8;P43146	.;DCC_HUMAN	V	231;164;79	ENSP00000389140:L231V;ENSP00000397322:L79V	ENSP00000304146:L164V	L	+	1	2	DCC	48686690	0.997000	0.39634	0.977000	0.42913	0.931000	0.56810	1.284000	0.33249	0.169000	0.19679	0.533000	0.62120	TTA		0.383	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		30	41	0	0	0	1	0	30	41					G	50432692	T	G	50432692	3	3	48	1	0	0	0	0	1	0	0	0	4284	1838	64	4	701	4	DCC	18	50432692	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	154238	50432692	27644556	3887	8355										
DCC	1630	broad.mit.edu	37	chr18	50450145	50450145	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagtagccattgaaggaaaaGatgctgtcctggaatgttgt	12	5	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50450145G>T	ENST00000442544.2	+	4	1382	c.766G>T	c.(766-768)Gat>Tat	p.D256Y	DCC_ENST00000412726.1_Missense_Mutation_p.D104Y	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	256	Ig-like C2-type 3.				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)		TGAAGGAAAAGATGCTGTCCT	0.423																																						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.(766-768)Gat>Tat		deleted in colorectal carcinoma							145	118	127					18																	50450145		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50450145G>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.766G>T	18.37:g.50450145G>T	ENSP00000389140:p.Asp256Tyr		Somatic				DCC_ENST00000412726.1_Missense_Mutation_p.D104Y	p.D256Y	NM_005215.3	NP_005206.2	WXS	Illumina GAIIx	Phase_I	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	4	1382	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	256			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000442544.2	37	c.766G>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472268	0.43942	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.68181	-0.31;-0.31	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.201983	0.40144	N	0.001173	D	0.85687	0.5754	M	0.91561	3.22	0.80722	D	1	D;D	0.62365	0.991;0.991	P;D	0.70016	0.827;0.967	D	0.87106	0.2182	10	0.51188	T	0.08	.	18.7545	0.91827	0.0:0.0:1.0:0.0	.	104;256	E7EQM8;P43146	.;DCC_HUMAN	Y	256;189;104	ENSP00000389140:D256Y;ENSP00000397322:D104Y	ENSP00000304146:D189Y	D	+	1	0	DCC	48704143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.295000	0.65692	2.728000	0.93425	0.650000	0.86243	GAT		0.423	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		18	21	1	0	0.0332995	1	0.0338902	18	21					T	50450145	G	T	50450145	3	4	48	1	0	0	0	0	1	0	0	0	4284	942	33	2	780	2	DCC	18	50450145	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	17453	50450145	27627103	3888	8356										
DCC	1630	broad.mit.edu	37	chr18	50731697	50731697	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggtccagtccaaggttacaGattgttctgcactgaggtgt	12	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50731697G>T	ENST00000442544.2	+	10	2301	c.1685G>T	c.(1684-1686)aGa>aTa	p.R562I	DCC_ENST00000581580.1_Missense_Mutation_p.R217I|DCC_ENST00000412726.1_Missense_Mutation_p.R410I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	562	Fibronectin type-III 2. {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)		CAAGGTTACAGATTGTTCTGC	0.488																																						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.(1684-1686)aGa>aTa		deleted in colorectal carcinoma							200	181	188					18																	50731697		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50731697G>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.1685G>T	18.37:g.50731697G>T	ENSP00000389140:p.Arg562Ile		Somatic				DCC_ENST00000581580.1_Missense_Mutation_p.R217I|DCC_ENST00000412726.1_Missense_Mutation_p.R410I	p.R562I	NM_005215.3	NP_005206.2	WXS	Illumina GAIIx	Phase_I	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	10	2301	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	562			Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1685G>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496606	0.44352	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.58797	0.31;0.31	5.78	5.78	0.91487	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	L	0.31926	0.97	0.80722	D	1	B;B;D	0.76494	0.238;0.238;0.999	B;B;D	0.79108	0.223;0.159;0.992	T	0.70802	-0.4773	10	0.87932	D	0	.	18.7793	0.91925	0.0:0.0:1.0:0.0	.	410;410;562	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	I	562;495;410	ENSP00000389140:R562I;ENSP00000397322:R410I	ENSP00000304146:R495I	R	+	2	0	DCC	48985695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.952000	0.63618	2.722000	0.93159	0.655000	0.94253	AGA		0.488	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		71	111	1	0	3.58576e-35	1	5.15276e-35	71	111					T	50731697	G	T	50731697	3	4	48	1	0	0	0	0	1	0	0	0	4284	942	33	2	1723	2	DCC	18	50731697	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	281552	50731697	27345551	3889	8357										
DCC	1630	broad.mit.edu	37	chr18	50923743	50923743	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaaacacaatgtatgaattCtcggtcatggtaacaaaaaa	6	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50923743C>A	ENST00000442544.2	+	18	3370	c.2754C>A	c.(2752-2754)ttC>ttA	p.F918L	DCC_ENST00000581580.1_Missense_Mutation_p.F553L|DCC_ENST00000412726.1_Missense_Mutation_p.F746L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	918	Fibronectin type-III 5. {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)	p.F918L(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTATGAATTCTCGGTCATGG	0.403																																						ENST00000442544.2																			1	Substitution - Missense(1)	p.F918L(1)	large_intestine(1)	NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(2752-2754)ttC>ttA		deleted in colorectal carcinoma							119	104	109					18																	50923743		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50923743C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2754C>A	18.37:g.50923743C>A	ENSP00000389140:p.Phe918Leu		Somatic				DCC_ENST00000581580.1_Missense_Mutation_p.F553L|DCC_ENST00000412726.1_Missense_Mutation_p.F746L	p.F918L	NM_005215.3	NP_005206.2	WXS	Illumina GAIIx	Phase_I	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	18	3370	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	918			Fibronectin type-III 5.			Missense_Mutation	SNP	ENST00000442544.2	37	c.2754C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449441	0.43531	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.59906	0.23;0.23	5.8	4.93	0.64822	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76421	0.3985	M	0.87097	2.86	0.50632	D	0.999885	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.993	T	0.77953	-0.2394	10	0.45353	T	0.12	.	9.9653	0.41721	0.0:0.8434:0.0:0.1566	.	746;746;918	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	L	918;746	ENSP00000389140:F918L;ENSP00000397322:F746L	ENSP00000397322:F746L	F	+	3	2	DCC	49177741	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.476000	0.35420	1.455000	0.47813	0.650000	0.86243	TTC		0.403	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		15	35	1	0	7.93312e-07	1	8.98086e-07	15	35					A	50923743	C	A	50923743	3	1	48	1	0	0	0	0	1	0	0	0	4284	912	32	2	2824	2	DCC	18	50923743	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	192046	50923743	27153505	3890	8358										
DCC	1630	broad.mit.edu	37	chr18	51053053	51053053	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggctggaaaagcaagatcccCtttgcttcctgtgtctgtgc	11	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:51053053C>A	ENST00000442544.2	+	28	4794	c.4178C>A	c.(4177-4179)cCt>cAt	p.P1393H	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.P1026H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1393					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)		GCAAGATCCCCTTTGCTTCCT	0.468																																						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.(4177-4179)cCt>cAt		deleted in colorectal carcinoma							116	106	109					18																	51053053		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51053053C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.4178C>A	18.37:g.51053053C>A	ENSP00000389140:p.Pro1393His		Somatic				DCC_ENST00000581580.1_Missense_Mutation_p.P1026H|RP11-671P2.1_ENST00000582064.1_RNA	p.P1393H	NM_005215.3	NP_005206.2	WXS	Illumina GAIIx	Phase_I	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	28	4794	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1393						Missense_Mutation	SNP	ENST00000442544.2	37	c.4178C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547904	0.45383	.	.	ENSG00000187323	ENST00000442544	T	0.76448	-1.02	5.53	5.53	0.82687	Neogenin, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.87767	0.6260	M	0.71036	2.16	0.46376	D	0.999012	D	0.89917	1.0	D	0.97110	1.0	D	0.88102	0.2820	10	0.59425	D	0.04	-7.6915	18.261	0.90035	0.0:1.0:0.0:0.0	.	1393	P43146	DCC_HUMAN	H	1393	ENSP00000389140:P1393H	ENSP00000389140:P1393H	P	+	2	0	DCC	49307051	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.540000	0.73861	2.596000	0.87737	0.655000	0.94253	CCT		0.468	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		34	53	1	0	7.11191e-15	1	9.30872e-15	34	53					A	51053053	C	A	51053053	3	1	48	1	0	0	0	0	1	0	0	0	4284	681	24	5	4288	5	DCC	18	51053053	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	129310	51053053	27024195	3891	8359										
POLI	11201	broad.mit.edu	37	chr18	51810358	51810358	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagctaaaaataagattgaaGaactacttgctagtctttta	6	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:51810358G>T	ENST00000579534.1	+	7	1185	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*	POLI_ENST00000579434.1_Nonsense_Mutation_p.E245*|POLI_ENST00000217800.5_Nonsense_Mutation_p.E222*|POLI_ENST00000406285.3_Nonsense_Mutation_p.E269*	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	348					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TAAGATTGAAGAACTACTTGC	0.299								DNA polymerases (catalytic subunits)																														ENST00000579534.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(1042-1044)Gaa>Taa	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota							51	49	50					18																	51810358		2197	4285	6482	SO:0001587	stop_gained	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51810358G>T		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"DNA polymerases"	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.1042G>T	18.37:g.51810358G>T	ENSP00000462664:p.Glu348*		Somatic				POLI_ENST00000406285.3_Nonsense_Mutation_p.E269*|POLI_ENST00000579434.1_Nonsense_Mutation_p.E245*|POLI_ENST00000217800.5_Nonsense_Mutation_p.E222*	p.E348*	NM_007195.2	NP_009126.2	WXS	Illumina GAIIx	Phase_I	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	7	1185	+			348					Q8N590|Q9H0S1|Q9NYH6	Nonsense_Mutation	SNP	ENST00000579534.1	37	c.1042G>T	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613697	0.87359	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	.	.	.	5.5	5.5	0.81552	.	0.172021	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-27.6044	18.5323	0.90997	0.0:0.0:1.0:0.0	.	.	.	.	X	269;348	.	ENSP00000217800:E348X	E	+	1	0	POLI	50064356	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	5.001000	0.63946	2.741000	0.93983	0.650000	0.86243	GAA		0.299	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		3	16	1	0	0.004672	1	0.00483628	3	16					T	51810358	G	T	51810358	4	4	48	1	0	0	0	0	0	1	0	0	12212	943	33	2	1068	2	POLI	18	51810358	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	757305	51810358	26266890	3892	8360										
C18orf54	162681	broad.mit.edu	37	chr18	51898953	51898953	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ataagaccacagatccaaaaGaagagattaaacaagtaagc	7	7	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:51898953G>T	ENST00000300091.5	+	6	1293	c.961G>T	c.(961-963)Gaa>Taa	p.E321*	C18orf54_ENST00000578138.1_Nonsense_Mutation_p.E100*|C18orf54_ENST00000382911.4_Nonsense_Mutation_p.E482*|C18orf54_ENST00000582188.1_3'UTR	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	321						extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		AGATCCAAAAGAAGAGATTAA	0.303																																						ENST00000300091.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15						c.(961-963)Gaa>Taa		chromosome 18 open reading frame 54							79	75	77					18																	51898953		2203	4300	6503	SO:0001587	stop_gained	162681					extracellular region		g.chr18:51898953G>T	AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"lung adenoma susceptibility protein 2"	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.961G>T	18.37:g.51898953G>T	ENSP00000300091:p.Glu321*		Somatic				C18orf54_ENST00000382911.4_Nonsense_Mutation_p.E482*|C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000578138.1_Nonsense_Mutation_p.E100*	p.E321*	NM_173529.4	NP_775800.3	WXS	Illumina GAIIx	Phase_I	Q8IYD9	CR054_HUMAN		Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)	6	1293	+			321					I7HFJ6|Q6MZU3|Q6ZTL6	Nonsense_Mutation	SNP	ENST00000300091.5	37	c.961G>T	CCDS11956.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262558	0.59431	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	.	.	.	5.58	2.84	0.33178	.	0.547445	0.19077	N	0.123359	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-2.7326	5.753	0.18158	0.2289:0.1417:0.6294:0.0	.	.	.	.	X	321;482	.	ENSP00000300091:E321X	E	+	1	0	C18orf54	50152951	0.953000	0.32496	0.008000	0.14137	0.447000	0.32167	1.858000	0.39408	0.329000	0.23460	-0.458000	0.05436	GAA		0.303	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	NM_173529		17	36	1	0	3.52763e-06	1	3.92945e-06	17	36					T	51898953	G	T	51898953	4	4	48	1	0	0	0	0	0	1	0	0	1906	943	33	2	979	2	C18orf54	18	51898953	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	88595	51898953	26178295	3893	8361										
ST8SIA3	51046	broad.mit.edu	37	chr18	55021708	55021708	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcacccaggaactccaagaGaaaccttctaagtggaaatt	7	11	2	1	rs546717556		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:55021708G>T	ENST00000324000.3	+	2	2289	c.255G>T	c.(253-255)gaG>gaT	p.E85D		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	85					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)			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)		AACTCCAAGAGAAACCTTCTA	0.433																																						ENST00000324000.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36						c.(253-255)gaG>gaT		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3							122	119	120					18																	55021708		2203	4300	6503	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.chr18:55021708G>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.255G>T	18.37:g.55021708G>T	ENSP00000320431:p.Glu85Asp		Somatic					p.E85D	NM_015879.2	NP_056963.2	WXS	Illumina GAIIx	Phase_I	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	2	2289	+			85					A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	c.255G>T	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304893	0.23736	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.46063	0.88	4.88	1.83	0.25207	.	0.473089	0.25305	N	0.031626	T	0.22551	0.0544	N	0.16478	0.41	0.45378	D	0.998365	B	0.02656	0.0	B	0.01281	0.0	T	0.05971	-1.0853	10	0.12766	T	0.61	-36.3081	10.1097	0.42555	0.0:0.4398:0.4252:0.1349	.	85	O43173	SIA8C_HUMAN	D	192;85	ENSP00000320431:E85D	ENSP00000320431:E85D	E	+	3	2	ST8SIA3	53172706	0.998000	0.40836	0.996000	0.52242	0.993000	0.82548	0.512000	0.22755	0.554000	0.29061	0.467000	0.42956	GAG		0.433	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		45	69	1	0	1.15505e-17	1	1.55342e-17	45	69					T	55021708	G	T	55021708	3	4	48	1	0	0	0	0	1	0	0	0	15248	933	33	2	261	2	ST8SIA3	18	55021708	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3122755	55021708	23055540	3894	8362										
ATP8B1	5205	broad.mit.edu	37	chr18	55338749	55338749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taggattcattcgatgtaacCgttcataaataacagtgtca	7	7	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:55338749C>T	ENST00000283684.4	-	16	1882	c.1883G>A	c.(1882-1884)cGg>cAg	p.R628Q	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.R628Q|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	628			R -> W (in BRIC1). {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)				TCGATGTAACCGTTCATAAAT	0.373																																						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.(1882-1884)cGg>cAg		ATPase, aminophospholipid transporter, class I, type 8B, member 1							174	150	158					18																	55338749		2203	4300	6503	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55338749C>T	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.1883G>A	18.37:g.55338749C>T	ENSP00000283684:p.Arg628Gln		Somatic				ATP8B1_ENST00000283684.4_Missense_Mutation_p.R628Q|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	p.R628Q	NM_005603.4	NP_005594.1	WXS	Illumina GAIIx	Phase_I	O43520	AT8B1_HUMAN			17	2002	-		Colorectal(73;0.229)	628		R -> W (in BRIC1).			Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.1883G>A	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	36	5.761464	0.96906	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.72615	-0.67;-0.67	6.02	6.02	0.97574	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	0.88400	0.6426	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89548	0.3797	10	0.72032	D	0.01	.	20.1358	0.98028	0.0:1.0:0.0:0.0	.	628	O43520	AT8B1_HUMAN	Q	628	ENSP00000283684:R628Q;ENSP00000445359:R628Q	ENSP00000283684:R628Q	R	-	2	0	ATP8B1	53489747	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.796000	0.85898	2.865000	0.98341	0.655000	0.94253	CGG		0.373	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		12	37	0	0	0	1	0	12	37					T	55338749	C	T	55338749	3	4	48	1	0	0	0	0	1	0	0	0	1194	652	23	1	1920	1	ATP8B1	18	55338749	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	317041	55338749	22738499	3895	8363										
CCBE1	147372	broad.mit.edu	37	chr18	57363940	57363940	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttgctctctgagcagatttCtctatgaaaaagtgcagagg	10	7	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:57363940C>A	ENST00000439986.4	-	2	170	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	RP11-2N1.2_ENST00000588946.1_RNA	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	45					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)				GAGCAGATTTCTCTATGAAAA	0.587											OREG0025022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									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.e2-1		collagen and calcium binding EGF domains 1							84	89	87					18																	57363940		2203	4300	6503	SO:0001630	splice_region_variant	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57363940C>A	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.132-1G>T	18.37:g.57363940C>A			Somatic	OREG0025022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1022	RP11-2N1.2_ENST00000588946.1_RNA	p.E45_splice	NM_133459.3	NP_597716.1	WXS	Illumina GAIIx	Phase_I	Q6UXH8	CCBE1_HUMAN			2	170	-		Colorectal(73;0.175)	45					Q6MZX5|Q86SS2|Q8TF19	Splice_Site	SNP	ENST00000439986.4	37	c.131_splice	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	C	34	5.385706	0.95967	.	.	ENSG00000183287	ENST00000439986	.	.	.	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.1934	15.2911	0.73868	0.0:1.0:0.0:0.0	.	.	.	.	X	45	.	ENSP00000404464:E45X	E	-	1	0	CCBE1	55514920	1.000000	0.71417	0.982000	0.44146	0.242000	0.25591	4.408000	0.59761	2.677000	0.91161	0.491000	0.48974	GAA		0.587	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459	Nonsense_Mutation	24	51	1	0	3.83957e-06	1	4.27438e-06	24	51					A	57363940	C	A	57363940	5	1	48	1	0	0	0	0	0	0	1	0	2733	927	32	2	1127	2	CCBE1	18	57363940	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2025191	57363940	20713308	3896	8364										
PMAIP1	5366	broad.mit.edu	37	chr18	57569889	57569889	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccttctcagagctggaagtCgagtgtgctactcaactcag	10	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:57569889C>T	ENST00000316660.6	+	2	299	c.69C>T	c.(67-69)gtC>gtT	p.V23V	PMAIP1_ENST00000269518.9_Nonsense_Mutation_p.R74*	NM_021127.2	NP_066950.1	Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein 1	23					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|defense response to virus (GO:0051607)|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)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|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 release of cytochrome c from mitochondria (GO:0090200)|proteasomal protein catabolic process (GO:0010498)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to dsRNA (GO:0043331)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)	1		Colorectal(73;0.0946)				AGCTGGAAGTCGAGTGTGCTA	0.433																																						ENST00000269518.9																			0				breast(1)	1						c.(220-222)Cga>Tga		phorbol-12-myristate-13-acetate-induced protein 1							109	106	107					18																	57569889		2203	4300	6503	SO:0001819	synonymous_variant	5366				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to glucose starvation|cellular response to hypoxia|negative regulation of mitochondrial membrane potential|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of glucose metabolic process|positive regulation of protein oligomerization|positive regulation of release of cytochrome c from mitochondria|proteasomal protein catabolic process|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability|response to dsRNA|signal transduction by p53 class mediator resulting in induction of apoptosis|T cell homeostasis|virus-infected cell apoptosis	cytosol|mitochondrial outer membrane|nucleus	protein binding	g.chr18:57569889C>T	D90070	CCDS11975.1	18q21.32	2014-03-07			ENSG00000141682	ENSG00000141682			9108	protein-coding gene	gene with protein product		604959				2398525, 12879012	Standard	NM_021127		Approved	APR, NOXA	uc002lic.2	Q13794	OTTHUMG00000132765	ENST00000316660.6:c.69C>T	18.37:g.57569889C>T			Somatic				PMAIP1_ENST00000316660.6_Silent_p.V23V	p.R74*			WXS	Illumina GAIIx	Phase_I	Q13794	APR_HUMAN			3	382	+		Colorectal(73;0.0946)	0					B2R4T7|Q8N589	Nonsense_Mutation	SNP	ENST00000316660.6	37	c.220C>T	CCDS11975.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347346	0.61183	.	.	ENSG00000141682	ENST00000269518	.	.	.	5.18	-6.35	0.01975	.	3.159690	0.01638	N	0.023889	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.3095	0.04183	0.1048:0.199:0.3363:0.3598	.	.	.	.	X	74	.	ENSP00000269518:R74X	R	+	1	2	PMAIP1	55720869	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.651000	0.00857	-1.314000	0.02300	-0.868000	0.02995	CGA		0.433	PMAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256137.1	NM_021127		24	38	0	0	0	1	0	24	38					T	57569889	C	T	57569889	2	4	48	1	0	0	0	0	0	0	0	1	12139	871	31	1		1	PMAIP1	18	57569889	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	205949	57569889	20507359	3897	8365										
PMAIP1	5366	broad.mit.edu	37	chr18	57569963	57569963	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acttctgaatctgatatccaAactcttctgctcaggaacct	5	12	5	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:57569963A>C	ENST00000316660.6	+	2	373	c.143A>C	c.(142-144)aAa>aCa	p.K48T	PMAIP1_ENST00000269518.9_Missense_Mutation_p.Q98H	NM_021127.2	NP_066950.1	Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein 1	48	Required for mitochondrial location.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|defense response to virus (GO:0051607)|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)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|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 release of cytochrome c from mitochondria (GO:0090200)|proteasomal protein catabolic process (GO:0010498)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to dsRNA (GO:0043331)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)	1		Colorectal(73;0.0946)				CTGATATCCAAACTCTTCTGC	0.438																																						ENST00000316660.6																			0				breast(1)	1						c.(142-144)aAa>aCa		phorbol-12-myristate-13-acetate-induced protein 1							74	77	76					18																	57569963		2203	4300	6503	SO:0001583	missense	5366				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to glucose starvation|cellular response to hypoxia|negative regulation of mitochondrial membrane potential|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of glucose metabolic process|positive regulation of protein oligomerization|positive regulation of release of cytochrome c from mitochondria|proteasomal protein catabolic process|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability|response to dsRNA|signal transduction by p53 class mediator resulting in induction of apoptosis|T cell homeostasis|virus-infected cell apoptosis	cytosol|mitochondrial outer membrane|nucleus	protein binding	g.chr18:57569963A>C	D90070	CCDS11975.1	18q21.32	2014-03-07			ENSG00000141682	ENSG00000141682			9108	protein-coding gene	gene with protein product		604959				2398525, 12879012	Standard	NM_021127		Approved	APR, NOXA	uc002lic.2	Q13794	OTTHUMG00000132765	ENST00000316660.6:c.143A>C	18.37:g.57569963A>C	ENSP00000326119:p.Lys48Thr		Somatic				PMAIP1_ENST00000269518.9_Missense_Mutation_p.Q98H	p.K48T	NM_021127.2	NP_066950.1	WXS	Illumina GAIIx	Phase_I	Q13794	APR_HUMAN			2	373	+		Colorectal(73;0.0946)	48			Required for mitochondrial location.		B2R4T7|Q8N589	Missense_Mutation	SNP	ENST00000316660.6	37	c.143A>C	CCDS11975.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.75|16.75	3.208617|3.208617	0.58343|0.58343	.|.	.|.	ENSG00000141682|ENSG00000141682	ENST00000316660|ENST00000269518	.|.	.|.	.|.	4.93|4.93	3.74|3.74	0.42951|0.42951	.|.	.|1.242490	.|0.06232	.|U	.|0.688854	T|T	0.66781|0.66781	0.2824|0.2824	.|.	.|.	.|.	0.21473|0.21473	N|N	0.999677|0.999677	B|D	0.30851|0.89917	0.297|1.0	B|D	0.30179|0.71656	0.112|0.974	T|T	0.44329|0.44329	-0.9335|-0.9335	7|8	0.87932|0.87932	D|D	0|0	.|.	9.1065|9.1065	0.36701|0.36701	0.8152:0.1848:0.0:0.0|0.8152:0.1848:0.0:0.0	.|.	48|98	Q13794|Q8N589	APR_HUMAN|.	T|H	48|98	.|.	ENSP00000326119:K48T|ENSP00000269518:Q98H	K|Q	+|+	2|3	0|2	PMAIP1|PMAIP1	55720943|55720943	1.000000|1.000000	0.71417|0.71417	0.145000|0.145000	0.22337|0.22337	0.726000|0.726000	0.41606|0.41606	2.650000|2.650000	0.46665|0.46665	0.931000|0.931000	0.37242|0.37242	0.533000|0.533000	0.62120|0.62120	AAA|CAA		0.438	PMAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256137.1	NM_021127		18	33	0	0	0	1	0	18	33					C	57569963	A	C	57569963	3	2	48	1	0	0	0	0	1	0	0	0	12139	14	1	4	149	4	PMAIP1	18	57569963	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	74	57569963	20507285	3898	8366										
TNFRSF11A	8792	broad.mit.edu	37	chr18	60025530	60025530	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttgccttgcaggctacttCtctgatgccttttcctccac	6	16	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:60025530C>A	ENST00000586569.1	+	5	515	c.477C>A	c.(475-477)ttC>ttA	p.F159L	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.F159L	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	159					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CAGGCTACTTCTCTGATGCCT	0.418																																						ENST00000586569.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(475-477)ttC>ttA		tumor necrosis factor receptor superfamily, member 11a, NFKB activator							141	133	136					18																	60025530		2203	4300	6503	SO:0001583	missense	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60025530C>A	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.477C>A	18.37:g.60025530C>A	ENSP00000465500:p.Phe159Leu		Somatic				TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.F159L	p.F159L	NM_003839.2	NP_003830.1	WXS	Illumina GAIIx	Phase_I	Q9Y6Q6	TNR11_HUMAN			5	515	+		Colorectal(73;0.188)	159					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	c.477C>A	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885864	0.51908	.	.	ENSG00000141655	ENST00000382790;ENST00000269485	D	0.96427	-4.01	5.84	4.96	0.65561	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.056879	0.64402	D	0.000001	D	0.98213	0.9409	M	0.93462	3.42	0.38528	D	0.948908	D;D	0.76494	0.999;0.999	P;D	0.65323	0.866;0.934	D	0.99589	1.0975	9	.	.	.	-25.8018	11.3807	0.49754	0.0:0.8619:0.0:0.1381	.	181;159	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	L	181;159	ENSP00000269485:F159L	.	F	+	3	2	TNFRSF11A	58176510	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	1.185000	0.32065	2.763000	0.94921	0.557000	0.71058	TTC		0.418	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			39	50	1	0	1.59932e-28	1	2.27211e-28	39	50					A	60025530	C	A	60025530	3	1	48	1	0	0	0	0	1	0	0	0	16299	912	32	2	495	2	TNFRSF11A	18	60025530	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2455567	60025530	18051718	3899	8367										
PHLPP1	23239	broad.mit.edu	37	chr18	60646231	60646231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggacatccactgcagccgggCcaaggagaaggagaaacagc	14	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:60646231C>T	ENST00000262719.5	+	17	4955	c.4721C>T	c.(4720-4722)gCc>gTc	p.A1574V	PHLPP1_ENST00000400316.4_Missense_Mutation_p.A1062V			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1574					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|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)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TGCAGCCGGGCCAAGGAGAAG	0.622																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(3184-3186)gCc>gTc		PH domain and leucine rich repeat protein phosphatase 1							28	33	31					18																	60646231		2101	4208	6309	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60646231C>T	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4721C>T	18.37:g.60646231C>T	ENSP00000262719:p.Ala1574Val		Somatic				PHLPP1_ENST00000262719.5_Missense_Mutation_p.A1574V	p.A1062V	NM_194449.3	NP_919431.2	WXS	Illumina GAIIx	Phase_I	O60346	PHLP1_HUMAN			17	4966	+			1574	L -> F (in Ref. 4; AAH47653).				A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.3185C>T	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222464	0.58668	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.26957	1.85;1.7	4.18	4.18	0.49190	.	.	.	.	.	T	0.21307	0.0513	L	0.36672	1.1	0.42849	D	0.994071	P	0.49090	0.919	B	0.37550	0.253	T	0.15178	-1.0446	9	0.66056	D	0.02	-8.4115	16.6946	0.85332	0.0:1.0:0.0:0.0	.	1574	O60346	PHLP1_HUMAN	V	1062;1574	ENSP00000383170:A1062V;ENSP00000262719:A1574V	ENSP00000262719:A1574V	A	+	2	0	PHLPP1	58797211	0.998000	0.40836	0.932000	0.37286	0.960000	0.62799	4.181000	0.58303	2.173000	0.68751	0.561000	0.74099	GCC		0.622	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		10	17	0	0	0	1	0	10	17					T	60646231	C	T	60646231	3	4	48	1	0	0	0	0	1	0	0	0	11863	739	26	3	4787	3	PHLPP1	18	60646231	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	620701	60646231	17431017	3900	8368										
KDSR	2531	broad.mit.edu	37	chr18	61002592	61002592	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaactgttgaaatttccttgCtaaaagagaagaaaaagaag	9	4	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:61002592C>T	ENST00000406396.3	-	9	1169		c.e9-1		KDSR_ENST00000589592.1_Splice_Site|KDSR_ENST00000326575.5_Splice_Site	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase						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						AATTTCCTTGCTAAAAGAGAA	0.468																																						ENST00000406396.3																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						c.e9-1		3-ketodihydrosphingosine reductase							55	56	55					18																	61002592		2203	4300	6503	SO:0001630	splice_region_variant	2531				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding	g.chr18:61002592C>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.778-1G>A	18.37:g.61002592C>T			Somatic				KDSR_ENST00000326575.5_Splice_Site|KDSR_ENST00000589592.1_Splice_Site		NM_002035.2	NP_002026.1	WXS	Illumina GAIIx	Phase_I	Q06136	KDSR_HUMAN			9	1169	-								B2R5Y1|B4DMX0	Splice_Site	SNP	ENST00000406396.3	37		CCDS11982.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333039	0.81801	.	.	ENSG00000119537	ENST00000406396;ENST00000326575	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6937	0.96012	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KDSR	59153572	1.000000	0.71417	0.997000	0.53966	0.755000	0.42902	7.757000	0.85209	2.665000	0.90641	0.655000	0.94253	.		0.468	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2		Intron	20	29	0	0	0	1	0	20	29					T	61002592	C	T	61002592	5	4	48	1	0	0	0	0	0	0	1	0	8149	811	28	3	229	3	KDSR	18	61002592	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	356361	61002592	17074656	3901	8369										
SERPINB5	5268	broad.mit.edu	37	chr18	61166405	61166405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaggccacgttctgtatggGaaacattgacagtatcaatt	11	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:61166405G>A	ENST00000382771.4	+	6	912	c.620G>A	c.(619-621)gGa>gAa	p.G207E	SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	207					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						TTCTGTATGGGAAACATTGAC	0.408																																						ENST00000382771.4																			0				kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						c.(619-621)gGa>gAa		serpin peptidase inhibitor, clade B (ovalbumin), member 5							129	113	118					18																	61166405		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61166405G>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.620G>A	18.37:g.61166405G>A	ENSP00000372221:p.Gly207Glu		Somatic				SERPINB5_ENST00000464346.1_3'UTR	p.G207E	NM_002639.4	NP_002630.2	WXS	Illumina GAIIx	Phase_I	P36952	SPB5_HUMAN			6	912	+			207					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.620G>A	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793921	0.70452	.	.	ENSG00000206075	ENST00000382771	T	0.18960	2.18	5.22	5.22	0.72569	Serpin domain (3);	0.000000	0.85682	D	0.000000	T	0.46425	0.1392	M	0.65320	2	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.40346	-0.9568	10	0.66056	D	0.02	.	19.1486	0.93479	0.0:0.0:1.0:0.0	.	207	P36952	SPB5_HUMAN	E	207	ENSP00000372221:G207E	ENSP00000372221:G207E	G	+	2	0	SERPINB5	59317385	1.000000	0.71417	0.897000	0.35233	0.725000	0.41563	1.955000	0.40372	2.605000	0.88082	0.505000	0.49811	GGA		0.408	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		31	43	0	0	0	1	0	31	43					A	61166405	G	A	61166405	3	1	48	1	0	0	0	0	1	0	0	0	14119	1174	41	3	638	3	SERPINB5	18	61166405	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	163813	61166405	16910843	3902	8370										
SERPINB3	6317	broad.mit.edu	37	chr18	61324590	61324590	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaatagattgcgttcacaaGaaccaatgtggtattgctgc	10	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:61324590G>T	ENST00000283752.5	-	6	669	c.526C>A	c.(526-528)Ctt>Att	p.L176I	SERPINB3_ENST00000332821.8_Missense_Mutation_p.L176I|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	176					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						GCGTTCACAAGAACCAATGTG	0.323																																						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.(526-528)Ctt>Att		serpin peptidase inhibitor, clade B (ovalbumin), member 3							101	102	102					18																	61324590		2203	4300	6503	SO:0001583	missense	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61324590G>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.526C>A	18.37:g.61324590G>T	ENSP00000283752:p.Leu176Ile		Somatic				SERPINB3_ENST00000332821.8_Missense_Mutation_p.L176I|SERPINB11_ENST00000489748.1_RNA	p.L176I	NM_006919.2	NP_008850.1	WXS	Illumina GAIIx	Phase_I	P29508	SPB3_HUMAN			6	669	-			176					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.526C>A	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264213	0.39995	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.89552	-2.53;-2.53	2.74	1.86	0.25419	Serpin domain (3);	0.000000	0.32258	N	0.006359	D	0.92120	0.7502	M	0.80028	2.48	0.29543	N	0.851938	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.992;0.992	D	0.85517	0.1201	10	0.87932	D	0	.	2.9907	0.05982	0.2828:0.2403:0.4768:0.0	.	176;176;176	P29508-2;P29508;Q5K684	.;SPB3_HUMAN;.	I	176	ENSP00000283752:L176I;ENSP00000329498:L176I	ENSP00000283752:L176I	L	-	1	0	SERPINB3	59475570	0.278000	0.24230	0.317000	0.25265	0.075000	0.17131	0.629000	0.24538	0.717000	0.32145	0.455000	0.32223	CTT		0.323	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		4	65	1	0	1	1	1	4	65					T	61324590	G	T	61324590	3	4	48	1	0	0	0	0	1	0	0	0	14117	942	33	2	658	2	SERPINB3	18	61324590	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	158185	61324590	16752658	3903	8371										
CDH19	28513	broad.mit.edu	37	chr18	64212074	64212074	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctctcctatgtcattatcaTatgccatgattgttcctata	4	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:64212074T>G	ENST00000540086.1	-	6	1088	c.842A>C	c.(841-843)tAt>tCt	p.Y281S	CDH19_ENST00000262150.2_Missense_Mutation_p.Y281S	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	391	Cadherin 3. {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)				GTCATTATCATATGCCATGAT	0.358																																						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.(841-843)tAt>tCt		cadherin 19, type 2							107	97	100					18																	64212074		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64212074T>G	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.842A>C	18.37:g.64212074T>G	ENSP00000439593:p.Tyr281Ser		Somatic				CDH19_ENST00000540086.1_Missense_Mutation_p.Y281S	p.Y281S	NM_021153.2	NP_066976.1	WXS	Illumina GAIIx	Phase_I	Q9H159	CAD19_HUMAN			6	1134	-		Esophageal squamous(42;0.0132)	281			Cadherin 3.		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.842A>C	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	T	9.361	1.068040	0.20067	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.48522	0.81;0.81	5.28	4.1	0.47936	Cadherin (4);Cadherin-like (1);	1.189240	0.05909	N	0.631434	T	0.28962	0.0719	N	0.04387	-0.21	0.29330	N	0.866732	B;B	0.28880	0.226;0.016	B;B	0.29598	0.104;0.028	T	0.28839	-1.0031	10	0.19590	T	0.45	.	10.9605	0.47383	0.1479:0.0:0.0:0.8521	.	281;281	F5H1K0;Q9H159	.;CAD19_HUMAN	S	281;281;226	ENSP00000262150:Y281S;ENSP00000439593:Y281S	ENSP00000262150:Y281S	Y	-	2	0	CDH19	62363054	0.037000	0.19845	0.993000	0.49108	0.578000	0.36192	2.374000	0.44274	0.815000	0.34398	0.402000	0.26972	TAT		0.358	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		8	15	0	0	0	1	0	8	15					G	64212074	T	G	64212074	3	3	48	1	0	0	0	0	1	0	0	0	3106	1406	49	4	1504	4	CDH19	18	64212074	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2887484	64212074	13865174	3904	8372										
DSEL	92126	broad.mit.edu	37	chr18	65178668	65178668	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccctctattttaaacaattTtgctaaatgctctggtacat	4	9	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:65178668T>G	ENST00000310045.7	-	2	4681	c.3208A>C	c.(3208-3210)Aaa>Caa	p.K1070Q	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	1060					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)				TTAAACAATTTTGCTAAATGC	0.333																																						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.(3208-3210)Aaa>Caa		dermatan sulfate epimerase-like							56	59	58					18																	65178668		2203	4299	6502	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178668T>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.3208A>C	18.37:g.65178668T>G	ENSP00000310565:p.Lys1070Gln		Somatic				CTD-2541J13.2_ENST00000583493.1_RNA	p.K1070Q	NM_032160.2	NP_115536.1	WXS	Illumina GAIIx	Phase_I	Q8IZU8	DSEL_HUMAN			2	4681	-		Esophageal squamous(42;0.129)	1060					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.3208A>C	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.716629	0.30413	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.17854	2.25	4.64	4.64	0.57946	Sulfotransferase domain (1);	0.782653	0.11335	U	0.574630	T	0.11665	0.0284	L	0.29908	0.895	0.09310	N	1	B	0.23990	0.095	B	0.22601	0.04	T	0.31503	-0.9941	10	0.15066	T	0.55	-14.1048	7.1537	0.25624	0.0:0.1802:0.0:0.8198	.	1060	Q8IZU8	DSEL_HUMAN	Q	1070;1060	ENSP00000310565:K1070Q	ENSP00000310565:K1070Q	K	-	1	0	DSEL	63329648	0.754000	0.28360	0.820000	0.32676	0.992000	0.81027	1.626000	0.37039	1.858000	0.53909	0.456000	0.33151	AAA		0.333	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		12	35	0	0	0	1	0	12	35					G	65178668	T	G	65178668	3	3	48	1	0	0	0	0	1	0	0	0	4777	1850	64	4	464	4	DSEL	18	65178668	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	966594	65178668	12898580	3905	8373										
DSEL	92126	broad.mit.edu	37	chr18	65178964	65178964	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaaagactctctccttttaAattttctttttttgtcctta	3	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:65178964A>C	ENST00000310045.7	-	2	4385	c.2912T>G	c.(2911-2913)tTt>tGt	p.F971C	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	961					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)				TCTCCTTTTAAATTTTCTTTT	0.378																																						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.(2911-2913)tTt>tGt		dermatan sulfate epimerase-like							43	50	47					18																	65178964		2180	4285	6465	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178964A>C	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.2912T>G	18.37:g.65178964A>C	ENSP00000310565:p.Phe971Cys		Somatic				CTD-2541J13.2_ENST00000583493.1_RNA	p.F971C	NM_032160.2	NP_115536.1	WXS	Illumina GAIIx	Phase_I	Q8IZU8	DSEL_HUMAN			2	4385	-		Esophageal squamous(42;0.129)	961					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.2912T>G	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	A	2.659	-0.280278	0.05642	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	D	0.82167	-1.58	5.17	-1.4	0.08968	Sulfotransferase domain (1);	0.399514	0.19643	U	0.109412	T	0.72471	0.3464	L	0.29908	0.895	0.09310	N	1	B	0.23540	0.087	B	0.31547	0.132	T	0.62105	-0.6924	10	0.41790	T	0.15	0.2889	10.7418	0.46158	0.4756:0.0:0.5244:0.0	.	961	Q8IZU8	DSEL_HUMAN	C	971;961	ENSP00000310565:F971C	ENSP00000310565:F971C	F	-	2	0	DSEL	63329944	0.000000	0.05858	0.001000	0.08648	0.332000	0.28634	0.844000	0.27654	-0.245000	0.09625	-0.376000	0.06991	TTT		0.378	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		14	34	0	0	0	1	0	14	34					C	65178964	A	C	65178964	3	2	48	1	0	0	0	0	1	0	0	0	4777	14	1	4	760	4	DSEL	18	65178964	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	296	65178964	12898284	3906	8374										
DSEL	92126	broad.mit.edu	37	chr18	65180565	65180565	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacacaaaggtgttggtctgTgtgtttggcaacccagcccc	12	11	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:65180565T>C	ENST00000310045.7	-	2	2784	c.1311A>G	c.(1309-1311)acA>acG	p.T437T	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	427					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)				TGTTGGTCTGTGTGTTTGGCA	0.483																																						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.(1309-1311)acA>acG		dermatan sulfate epimerase-like							73	67	69					18																	65180565		2203	4300	6503	SO:0001819	synonymous_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180565T>C	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.1311A>G	18.37:g.65180565T>C			Somatic				CTD-2541J13.2_ENST00000583493.1_RNA	p.T437T	NM_032160.2	NP_115536.1	WXS	Illumina GAIIx	Phase_I	Q8IZU8	DSEL_HUMAN			2	2784	-		Esophageal squamous(42;0.129)	427					Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	c.1311A>G	CCDS11995.1																																																																																				0.483	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		14	33	0	0	0	1	0	14	33					C	65180565	T	C	65180565	2	2	48	1	0	0	0	0	0	0	0	1	4777	1683	59	4		4	DSEL	18	65180565	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1601	65180565	12896683	3907	8375										
TMX3	54495	broad.mit.edu	37	chr18	66365258	66365258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgttgacttggaagtggccGaattagagccctgttgcaca	12	8	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:66365258G>A	ENST00000299608.2	-	7	719	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	TMX3_ENST00000443099.2_Missense_Mutation_p.R108W|TMX3_ENST00000562706.1_Missense_Mutation_p.R135W	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	135					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						GGAAGTGGCCGAATTAGAGCC	0.318																																						ENST00000299608.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(403-405)Cgg>Tgg		thioredoxin-related transmembrane protein 3							79	72	74					18																	66365258		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.chr18:66365258G>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.403C>T	18.37:g.66365258G>A	ENSP00000299608:p.Arg135Trp		Somatic				TMX3_ENST00000443099.2_Missense_Mutation_p.R108W|TMX3_ENST00000562706.1_Missense_Mutation_p.R135W	p.R135W	NM_019022.3	NP_061895.3	WXS	Illumina GAIIx	Phase_I	Q96JJ7	TMX3_HUMAN			7	719	-			135					B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	c.403C>T	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914520	0.72983	.	.	ENSG00000166479	ENST00000299608;ENST00000544714;ENST00000443099	T;T	0.14266	2.83;2.52	5.33	5.33	0.75918	.	0.054279	0.64402	N	0.000001	T	0.29458	0.0734	L	0.38531	1.155	0.80722	D	1	D;P;D	0.89917	1.0;0.765;1.0	D;B;D	0.97110	1.0;0.134;0.999	T	0.00995	-1.1487	10	0.72032	D	0.01	.	16.8578	0.86010	0.0:0.0:1.0:0.0	.	108;135;135	B4DIE3;Q96JJ7-2;Q96JJ7	.;.;TMX3_HUMAN	W	135;135;108	ENSP00000299608:R135W;ENSP00000402605:R108W	ENSP00000299608:R135W	R	-	1	2	TMX3	64516238	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.237000	0.58681	2.652000	0.90054	0.655000	0.94253	CGG		0.318	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		12	21	0	0	0	1	0	12	21					A	66365258	G	A	66365258	3	1	48	1	0	0	0	0	1	0	0	0	16283	1057	37	1	1001	1	TMX3	18	66365258	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1184693	66365258	11711990	3908	8376										
CCDC102B	79839	broad.mit.edu	37	chr18	66505962	66505962	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaacaaggtgtggttattgAttctctaaaattaagtgagg	12	3	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:66505962A>C	ENST00000360242.5	+	3	743	c.626A>C	c.(625-627)gAt>gCt	p.D209A	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D209A|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D209A|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D209A	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	209										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GTGGTTATTGATTCTCTAAAA	0.343																																						ENST00000360242.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36						c.(625-627)gAt>gCt		coiled-coil domain containing 102B							85	87	86					18																	66505962		2203	4300	6503	SO:0001583	missense	79839							g.chr18:66505962A>C	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 14", "aminoacylase 1-like"	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.626A>C	18.37:g.66505962A>C	ENSP00000353377:p.Asp209Ala		Somatic				CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D209A|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D209A|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D209A	p.D209A	NM_024781.2	NP_079057.2	WXS	Illumina GAIIx	Phase_I	Q68D86	C102B_HUMAN			3	743	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	209					Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	c.626A>C	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	A	3.286	-0.146009	0.06627	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.69040	-0.37;-0.37;-0.37	5.61	4.39	0.52855	.	0.192345	0.36703	N	0.002459	T	0.64605	0.2613	L	0.31926	0.97	0.09310	N	1	D;D	0.69078	0.997;0.972	P;P	0.57720	0.826;0.67	T	0.54351	-0.8307	10	0.18276	T	0.48	-29.3246	10.4185	0.44335	0.8366:0.1634:0.0:0.0	.	209;209	Q68D86-3;Q68D86	.;C102B_HUMAN	A	209	ENSP00000316237:D209A;ENSP00000351479:D209A;ENSP00000353377:D209A	ENSP00000316237:D209A	D	+	2	0	CCDC102B	64656942	0.076000	0.21285	0.917000	0.36280	0.194000	0.23727	2.905000	0.48727	2.143000	0.66587	0.482000	0.46254	GAT		0.343	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		9	26	0	0	0	1	0	9	26					C	66505962	A	C	66505962	3	2	48	1	0	0	0	0	1	0	0	0	2739	333	12	4	632	4	CCDC102B	18	66505962	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	140704	66505962	11571286	3909	8377										
CCDC102B	79839	broad.mit.edu	37	chr18	66721328	66721328	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctggatgaagagaaagaaaGaaatgaaaacttagagactg	11	3	1	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:66721328G>T	ENST00000360242.5	+	8	1613	c.1496G>T	c.(1495-1497)aGa>aTa	p.R499I	CCDC102B_ENST00000319445.6_Missense_Mutation_p.R499I	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	499								p.R499K(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GAGAAAGAAAGAAATGAAAAC	0.368																																						ENST00000360242.5																			1	Substitution - Missense(1)	p.R499K(1)	large_intestine(1)	breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36						c.(1495-1497)aGa>aTa		coiled-coil domain containing 102B							78	77	77					18																	66721328		2203	4299	6502	SO:0001583	missense	79839							g.chr18:66721328G>T	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 14", "aminoacylase 1-like"	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1496G>T	18.37:g.66721328G>T	ENSP00000353377:p.Arg499Ile		Somatic				CCDC102B_ENST00000319445.6_Missense_Mutation_p.R499I	p.R499I	NM_024781.2	NP_079057.2	WXS	Illumina GAIIx	Phase_I	Q68D86	C102B_HUMAN			8	1613	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	499					Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	c.1496G>T	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	7.755	0.704236	0.15172	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.12039	2.72;2.72	5.05	-4.57	0.03421	.	1.856880	0.03418	N	0.205832	T	0.08358	0.0208	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28902	-1.0029	10	0.33141	T	0.24	3.982	1.5756	0.02624	0.1284:0.1771:0.2728:0.4218	.	499	Q68D86	C102B_HUMAN	I	499	ENSP00000316237:R499I;ENSP00000353377:R499I	ENSP00000316237:R499I	R	+	2	0	CCDC102B	64872308	0.000000	0.05858	0.022000	0.16811	0.161000	0.22273	-1.180000	0.03088	-0.765000	0.04645	-0.531000	0.04308	AGA		0.368	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		21	42	1	0	3.5997e-14	1	4.67138e-14	21	42					T	66721328	G	T	66721328	3	4	48	1	0	0	0	0	1	0	0	0	2739	942	33	2	1522	2	CCDC102B	18	66721328	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	215366	66721328	11355920	3910	8378										
NETO1	81832	broad.mit.edu	37	chr18	70526222	70526222	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccaaaaggtccatctcgaActtcaatatgatcaaatttg	6	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:70526222A>G	ENST00000327305.6	-	4	965	c.308T>C	c.(307-309)gTt>gCt	p.V103A	NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000583169.1_Missense_Mutation_p.V103A|NETO1_ENST00000397929.1_Missense_Mutation_p.V102A|NETO1_ENST00000299430.2_Missense_Mutation_p.V102A	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	103	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCCATCTCGAACTTCAATATG	0.378																																						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.(307-309)gTt>gCt		neuropilin (NRP) and tolloid (TLL)-like 1							92	91	91					18																	70526222		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.chr18:70526222A>G	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.308T>C	18.37:g.70526222A>G	ENSP00000313088:p.Val103Ala		Somatic				NETO1_ENST00000299430.2_Missense_Mutation_p.V102A|NETO1_ENST00000583169.1_Missense_Mutation_p.V103A|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.V102A	p.V103A	NM_138966.3	NP_620416.1	WXS	Illumina GAIIx	Phase_I	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	4	965	-		Esophageal squamous(42;0.129)	103			CUB 1.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.308T>C	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.896224	0.91962	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.44482	0.92;0.92;1.17	5.35	5.35	0.76521	CUB (5);	0.000000	0.53938	D	0.000054	T	0.69196	0.3084	M	0.87900	2.915	0.80722	D	1	D;D;P	0.67145	0.996;0.99;0.935	D;D;P	0.75484	0.986;0.98;0.835	T	0.75909	-0.3151	10	0.87932	D	0	10.4226	15.6405	0.76997	1.0:0.0:0.0:0.0	.	102;102;103	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	A	103;102;102	ENSP00000313088:V103A;ENSP00000299430:V102A;ENSP00000381024:V102A	ENSP00000299430:V102A	V	-	2	0	NETO1	68677202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.223000	0.95203	2.159000	0.67721	0.533000	0.62120	GTT		0.378	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		16	20	0	0	0	1	0	16	20					G	70526222	A	G	70526222	3	3	48	1	0	0	0	0	1	0	0	0	10348	43	2	4	1330	4	NETO1	18	70526222	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	3804894	70526222	7551026	3911	8379										
CNDP1	84735	broad.mit.edu	37	chr18	72247405	72247405	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtgttctccaaaagaaatAgttccaacaagatggttgtt	8	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:72247405A>C	ENST00000358821.3	+	10	1435	c.1207A>C	c.(1207-1209)Agt>Cgt	p.S403R	CNDP1_ENST00000582365.1_Missense_Mutation_p.S360R	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	403						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.S403G(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)		CAAAAGAAATAGTTCCAACAA	0.388																																					Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			1	Substitution - Missense(1)	p.S403G(1)	lung(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.(1078-1080)Agt>Cgt		carnosine dipeptidase 1 (metallopeptidase M20 family)							111	104	106					18																	72247405		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72247405A>C		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.1207A>C	18.37:g.72247405A>C	ENSP00000351682:p.Ser403Arg		Somatic				CNDP1_ENST00000358821.3_Missense_Mutation_p.S403R	p.S360R			WXS	Illumina GAIIx	Phase_I	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	9	1144	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	403					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.1078A>C	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012104	0.75046	.	.	ENSG00000150656	ENST00000358821	T	0.17528	2.27	5.04	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62388	-0.6865	10	0.87932	D	0	-11.8824	10.3063	0.43683	0.8522:0.0:0.0:0.1478	.	403	Q96KN2	CNDP1_HUMAN	R	403	ENSP00000351682:S403R	ENSP00000351682:S403R	S	+	1	0	CNDP1	70398385	1.000000	0.71417	0.968000	0.41197	0.965000	0.64279	5.972000	0.70448	0.741000	0.32674	0.460000	0.39030	AGT		0.388	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		11	15	0	0	0	1	0	11	15					C	72247405	A	C	72247405	3	2	48	1	0	0	0	0	1	0	0	0	3595	420	15	4	1245	4	CNDP1	18	72247405	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1721183	72247405	5829843	3912	8380										
ZNF407	55628	broad.mit.edu	37	chr18	72344194	72344194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atacccttcaggcagcacacGgtaacagtgtaacctcgagg	10	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:72344194G>A	ENST00000299687.5	+	1	1219	c.1219G>A	c.(1219-1221)Ggt>Agt	p.G407S	ZNF407_ENST00000309902.6_Missense_Mutation_p.G407S|ZNF407_ENST00000577538.1_Missense_Mutation_p.G407S|ZNF407_ENST00000582337.1_Missense_Mutation_p.G407S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	407					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)		GGCAGCACACGGTAACAGTGT	0.468																																						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.(1219-1221)Ggt>Agt		zinc finger protein 407							55	57	56					18																	72344194		1868	4115	5983	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72344194G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1219G>A	18.37:g.72344194G>A	ENSP00000299687:p.Gly407Ser		Somatic				ZNF407_ENST00000582337.1_Missense_Mutation_p.G407S|ZNF407_ENST00000577538.1_Missense_Mutation_p.G407S|ZNF407_ENST00000309902.6_Missense_Mutation_p.G407S	p.G407S	NM_017757.2	NP_060227.2	WXS	Illumina GAIIx	Phase_I	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	1219	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	407					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.1219G>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	2.450	-0.326574	0.05350	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.08807	3.05;3.5	5.17	-8.63	0.00878	.	.	.	.	.	T	0.02727	0.0082	N	0.01505	-0.83	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.0	T	0.53606	-0.8415	9	0.17369	T	0.5	.	16.58	0.84712	0.881:0.0:0.119:0.0	.	407;407;407	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	S	407	ENSP00000299687:G407S;ENSP00000310359:G407S	ENSP00000299687:G407S	G	+	1	0	ZNF407	70473182	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.172000	0.09868	0.025000	0.15241	-0.172000	0.13284	GGT		0.468	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		16	39	0	0	0	1	0	16	39					A	72344194	G	A	72344194	3	1	48	1	0	0	0	0	1	0	0	0	17902	1116	39	1	1221	1	ZNF407	18	72344194	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	96789	72344194	5733054	3913	8381										
GALR1	2587	broad.mit.edu	37	chr18	74980781	74980781	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaagtgtcacattcgcaaaGattcacacctgagtgatact	7	10	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:74980781G>T	ENST00000299727.3	+	3	973	c.973G>T	c.(973-975)Gat>Tat	p.D325Y		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	325					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CATTCGCAAAGATTCACACCT	0.388																																						ENST00000299727.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(973-975)Gat>Tat		galanin receptor 1							78	82	81					18																	74980781		2203	4300	6503	SO:0001583	missense	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74980781G>T	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"GPCR / Class A : Galanin receptors"	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.973G>T	18.37:g.74980781G>T	ENSP00000299727:p.Asp325Tyr		Somatic					p.D325Y	NM_001480.3	NP_001471.2	WXS	Illumina GAIIx	Phase_I	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	3	973	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	325					Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	c.973G>T	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	G	9.981	1.228078	0.22542	.	.	ENSG00000166573	ENST00000299727	T	0.37235	1.21	4.86	-0.588	0.11687	.	0.730840	0.13165	N	0.408722	T	0.29288	0.0729	L	0.55481	1.735	0.09310	N	1	B	0.16166	0.016	B	0.15052	0.012	T	0.29518	-1.0009	10	0.59425	D	0.04	.	6.5117	0.22226	0.3635:0.1176:0.5189:0.0	.	325	P47211	GALR1_HUMAN	Y	325	ENSP00000299727:D325Y	ENSP00000299727:D325Y	D	+	1	0	GALR1	73109769	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	-0.174000	0.09839	0.121000	0.18284	0.460000	0.39030	GAT		0.388	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			12	100	1	0	9.05144e-12	1	1.13153e-11	12	100					T	74980781	G	T	74980781	3	4	48	1	0	0	0	0	1	0	0	0	6235	942	33	2	983	2	GALR1	18	74980781	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2636587	74980781	3096467	3914	8382										
SALL3	27164	broad.mit.edu	37	chr18	76754412	76754412	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacgagaactccatggaggaCgacgctgagctgaaggacgc	15	10	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:76754412C>T	ENST00000537592.2	+	2	2421	c.2421C>T	c.(2419-2421)gaC>gaT	p.D807D	SALL3_ENST00000536229.3_Silent_p.D674D|SALL3_ENST00000575389.2_Silent_p.D807D	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	807					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCATGGAGGACGACGCTGAGC	0.652																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2020-2022)gaC>gaT		spalt-like transcription factor 3							56	55	55					18																	76754412		2203	4300	6503	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754412C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2421C>T	18.37:g.76754412C>T			Somatic				SALL3_ENST00000537592.2_Silent_p.D807D|SALL3_ENST00000575389.2_Silent_p.D807D	p.D674D			WXS	Illumina GAIIx	Phase_I	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2731	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	807					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.2022C>T	CCDS12013.1																																																																																				0.652	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		15	25	0	0	0	1	0	15	25					T	76754412	C	T	76754412	2	4	48	1	0	0	0	0	0	0	0	1	13827	535	19	1		1	SALL3	18	76754412	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1773631	76754412	1322836	3915	8383										
ATP9B	374868	broad.mit.edu	37	chr18	76953202	76953202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaccttttttctatcagtgCttatgtttatgctcagaaac	7	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:76953202C>T	ENST00000426216.2	+	9	910	c.893C>T	c.(892-894)gCt>gTt	p.A298V	ATP9B_ENST00000307671.7_Missense_Mutation_p.A298V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	298					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)		TCTATCAGTGCTTATGTTTAT	0.318																																						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.(892-894)gCt>gTt		ATPase, class II, type 9B							129	126	127					18																	76953202		2203	4300	6503	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.chr18:76953202C>T	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.893C>T	18.37:g.76953202C>T	ENSP00000398076:p.Ala298Val		Somatic				ATP9B_ENST00000307671.7_Missense_Mutation_p.A298V	p.A298V	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)	9	910	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	298					O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.893C>T	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376602	0.61735	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	T;T	0.67865	-0.26;-0.29	5.01	5.01	0.66863	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	T	0.72574	0.3477	M	0.76838	2.35	0.80722	D	1	B;B	0.30889	0.299;0.254	B;B	0.36186	0.219;0.139	T	0.74842	-0.3527	10	0.56958	D	0.05	.	18.6702	0.91508	0.0:1.0:0.0:0.0	.	298;298	O43861;O43861-2	ATP9B_HUMAN;.	V	298	ENSP00000398076:A298V;ENSP00000304500:A298V	ENSP00000304500:A298V	A	+	2	0	ATP9B	75054190	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	6.263000	0.72521	2.488000	0.83962	0.585000	0.79938	GCT		0.318	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		6	45	0	0	0	1	0	6	45					T	76953202	C	T	76953202	3	4	48	1	0	0	0	0	1	0	0	0	1199	797	28	3	927	3	ATP9B	18	76953202	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	198790	76953202	1124046	3916	8384										
C18orf22	79863	broad.mit.edu	37	chr18	77797377	77797377	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcatgaggagcacctcaaaGaaaaccaggaaggaagacca	10	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:77797377G>T	ENST00000306735.5	+	3	387	c.249G>T	c.(247-249)aaG>aaT	p.K83N	RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000586847.1_3'UTR|RBFA_ENST00000262197.7_Missense_Mutation_p.K83N	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	83					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GCACCTCAAAGAAAACCAGGA	0.532																																						ENST00000306735.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(247-249)aaG>aaT		ribosome binding factor A (putative)							95	96	96					18																	77797377		2203	4300	6503	SO:0001583	missense	79863				rRNA processing	mitochondrion		g.chr18:77797377G>T	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 22"	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.249G>T	18.37:g.77797377G>T	ENSP00000305696:p.Lys83Asn		Somatic				RBFA_ENST00000586847.1_3'UTR|RBFA_ENST00000262197.7_Missense_Mutation_p.K83N|RBFADN_ENST00000569722.1_Intron	p.K83N	NM_024805.2	NP_079081.2	WXS	Illumina GAIIx	Phase_I	Q8N0V3	RBFA_HUMAN			3	387	+			83					Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	c.249G>T	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	G	8.961	0.970588	0.18659	.	.	ENSG00000101546	ENST00000262197;ENST00000306735	T;T	0.44881	0.91;0.91	4.99	1.95	0.26073	.	0.489617	0.18730	N	0.132764	T	0.33294	0.0858	L	0.49126	1.545	0.09310	N	1	P;P	0.43352	0.804;0.716	B;B	0.40134	0.32;0.155	T	0.16364	-1.0405	10	0.49607	T	0.09	-0.1263	6.5774	0.22575	0.1765:0.1501:0.6734:0.0	.	83;83	Q8N0V3-2;Q8N0V3	.;RBFA_HUMAN	N	83	ENSP00000262197:K83N;ENSP00000305696:K83N	ENSP00000262197:K83N	K	+	3	2	RBFA	75898365	0.265000	0.24102	0.016000	0.15963	0.368000	0.29767	0.438000	0.21559	1.105000	0.41606	0.555000	0.69702	AAG		0.532	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		35	76	1	0	1.36161e-19	1	1.85609e-19	35	76					T	77797377	G	T	77797377	3	4	48	1	0	0	0	0	1	0	0	0	1900	933	33	2	259	2	C18orf22	18	77797377	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	844175	77797377	279871	3917	8385										
C18orf22	79863	broad.mit.edu	37	chr18	77805878	77805878	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caagcagattatggagtacaAaaggaggaaagataaagggc	13	4	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:77805878A>G	ENST00000306735.5	+	7	893	c.755A>G	c.(754-756)aAa>aGa	p.K252R	RP11-795F19.5_ENST00000569722.1_Intron|RP11-795F19.5_ENST00000564012.1_Intron|RBFA_ENST00000262197.7_Missense_Mutation_p.K224E	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	252					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						ATGGAGTACAAAAGGAGGAAA	0.587																																						ENST00000306735.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(754-756)aAa>aGa		ribosome binding factor A (putative)							64	75	71					18																	77805878		2203	4300	6503	SO:0001583	missense	79863				rRNA processing	mitochondrion		g.chr18:77805878A>G	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 22"	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.755A>G	18.37:g.77805878A>G	ENSP00000305696:p.Lys252Arg		Somatic				RBFA_ENST00000262197.7_Missense_Mutation_p.K224E|RBFADN_ENST00000569722.1_Intron	p.K252R	NM_024805.2	NP_079081.2	WXS	Illumina GAIIx	Phase_I	Q8N0V3	RBFA_HUMAN			7	893	+			252					Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	c.755A>G	CCDS12021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.73|15.73	2.919516|2.919516	0.52653|0.52653	.|.	.|.	ENSG00000101546|ENSG00000101546	ENST00000262197|ENST00000306735	T|T	0.54071|0.35973	0.59|1.28	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000003|0.000003	T|T	0.56688|0.56688	0.2002|0.2002	.|.	.|.	.|.	0.23449|0.23449	N|N	0.99765|0.99765	B|D	0.31817|0.89917	0.341|1.0	B|D	0.30495|0.71870	0.116|0.975	T|T	0.52465|0.52465	-0.8572|-0.8572	9|9	0.87932|0.87932	D|D	0|0	-16.8076|-16.8076	12.1226|12.1226	0.53900|0.53900	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	224|252	Q8N0V3-2|Q8N0V3	.|RBFA_HUMAN	E|R	224|252	ENSP00000262197:K224E|ENSP00000305696:K252R	ENSP00000262197:K224E|ENSP00000305696:K252R	K|K	+|+	1|2	0|0	RBFA|RBFA	75906866|75906866	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.293000|0.293000	0.27360|0.27360	5.025000|5.025000	0.64097|0.64097	1.912000|1.912000	0.55364|0.55364	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.587	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		53	69	0	0	0	1	0	53	69					G	77805878	A	G	77805878	3	3	48	1	0	0	0	0	1	0	0	0	1900	15	1	4	781	4	C18orf22	18	77805878	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	8501	77805878	271370	3918	8386										
C19orf6	91304	broad.mit.edu	37	chr19	1012473	1012473	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagactcacccagggtgaccAccatgacggggatgctcagg	13	13	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1012473A>C	ENST00000356663.3	-	4	828	c.707T>G	c.(706-708)gTg>gGg	p.V236G	TMEM259_ENST00000333175.5_Missense_Mutation_p.V236G	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	236						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											CAGGGTGACCACCATGACGGG	0.677																																						ENST00000356663.3																			0											c.(706-708)gTg>gGg		transmembrane protein 259							27	27	27					19																	1012473		2190	4296	6486	SO:0001583	missense	91304							g.chr19:1012473A>C	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.707T>G	19.37:g.1012473A>C	ENSP00000349087:p.Val236Gly		Somatic				TMEM259_ENST00000333175.5_Missense_Mutation_p.V236G	p.V236G	NM_001033026.1	NP_001028198.1	WXS	Illumina GAIIx	Phase_I					4	828	-								O60392|Q8NF79|Q96H30	Missense_Mutation	SNP	ENST00000356663.3	37	c.707T>G	CCDS32862.1	.	.	.	.	.	.	.	.	.	.	A	19.19	3.780256	0.70222	.	.	ENSG00000182087	ENST00000356663;ENST00000333175	.	.	.	4.06	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	M	0.69823	2.125	0.80722	D	1	D;P	0.57257	0.979;0.947	P;P	0.59357	0.723;0.856	T	0.73547	-0.3948	9	0.62326	D	0.03	-10.9053	12.3146	0.54948	1.0:0.0:0.0:0.0	.	236;236	Q4ZIN3-2;Q4ZIN3	.;MBRL_HUMAN	G	236	.	ENSP00000331423:V236G	V	-	2	0	C19orf6	963473	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	8.279000	0.89901	1.698000	0.51180	0.379000	0.24179	GTG		0.677	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		4	10	0	0	0	1	0	4	10					C	1012473	A	C	1012473	3	2	48	1	0	0	0	0	1	0	0	0	1943	159	6	4	1187	4	C19orf6	19	1012473	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08		1012473	58116510	3919	8387										
SBNO2	22904	broad.mit.edu	37	chr19	1147372	1147372	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccacgggggcatagctggtgTctgggcagggctggctgccg	19	11	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1147372T>C	ENST00000361757.3	-	4	452	c.215A>G	c.(214-216)gAc>gGc	p.D72G	SBNO2_ENST00000587024.1_Missense_Mutation_p.D72G	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	72					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)		ATAGCTGGTGTCTGGGCAGGG	0.687																																						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.(214-216)gAc>gGc		strawberry notch homolog 2 (Drosophila)							43	56	52					19																	1147372		2009	4155	6164	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1147372T>C	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.215A>G	19.37:g.1147372T>C	ENSP00000354733:p.Asp72Gly		Somatic				SBNO2_ENST00000587024.1_Missense_Mutation_p.D72G	p.D72G	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)	4	452	-		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)	72					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.215A>G	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.961957	0.34659	.	.	ENSG00000064932	ENST00000361757	.	.	.	2.75	2.75	0.32379	.	0.522407	0.15736	U	0.247161	T	0.28134	0.0694	L	0.36672	1.1	0.28493	N	0.914382	B	0.26363	0.147	B	0.21917	0.037	T	0.11397	-1.0589	9	0.22706	T	0.39	.	7.3872	0.26888	0.0:0.0:0.0:1.0	.	72	Q9Y2G9	SBNO2_HUMAN	G	72	.	ENSP00000354733:D72G	D	-	2	0	SBNO2	1098372	0.997000	0.39634	0.209000	0.23619	0.191000	0.23601	3.137000	0.50562	1.526000	0.49068	0.459000	0.35465	GAC		0.687	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		26	31	0	0	0	1	0	26	31					C	1147372	T	C	1147372	3	2	48	1	0	0	0	0	1	0	0	0	13878	1667	58	4	4113	4	SBNO2	19	1147372	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	134899	1147372	57981611	3920	8388										
APC2	10297	broad.mit.edu	37	chr19	1453536	1453536	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcagcccagtacacggctcCgggccctccaaggacagctt	12	16	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1453536C>T	ENST00000535453.1	+	3	2052	c.339C>T	c.(337-339)tcC>tcT	p.S113S	APC2_ENST00000233607.2_Silent_p.S113S|APC2_ENST00000238483.4_Silent_p.S113S			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)		TACACGGCTCCGGGCCCTCCA	0.692																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(337-339)tcC>tcT		adenomatosis polyposis coli 2							12	18	16					19																	1453536		2187	4279	6466	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.chr19:1453536C>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.339C>T	19.37:g.1453536C>T			Somatic				APC2_ENST00000238483.4_Silent_p.S113S|APC2_ENST00000233607.2_Silent_p.S113S	p.S113S			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)	3	2052	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	113					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.339C>T	CCDS12068.1																																																																																				0.692	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		13	36	0	0	0	1	0	13	36					T	1453536	C	T	1453536	2	4	48	1	0	0	0	0	0	0	0	1	764	639	23	1		1	APC2	19	1453536	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	306164	1453536	57675447	3921	8389										
ATP8B3	148229	broad.mit.edu	37	chr19	1787174	1787174	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaagagccaggaaccatccTtcatacaggggctgagccgg	12	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1787174T>G	ENST00000310127.6	-	25	3319	c.3081A>C	c.(3079-3081)gaA>gaC	p.E1027D	ATP8B3_ENST00000539485.1_Missense_Mutation_p.E1037D|ATP8B3_ENST00000525591.1_Missense_Mutation_p.E990D	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1027					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAACCATCCTTCATACAGGG	0.597																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(3109-3111)gaA>gaC		ATPase, aminophospholipid transporter, class I, type 8B, member 3							50	54	53					19																	1787174		1916	4122	6038	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1787174T>G	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3081A>C	19.37:g.1787174T>G	ENSP00000311336:p.Glu1027Asp		Somatic				ATP8B3_ENST00000525591.1_Missense_Mutation_p.E990D|ATP8B3_ENST00000310127.6_Missense_Mutation_p.E1027D	p.E1037D			WXS	Illumina GAIIx	Phase_I	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	25	3344	-		Hepatocellular(1079;0.137)	1027					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.3111A>C	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	T	1.846	-0.466338	0.04476	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.39056	1.1;1.1;1.1	4.25	2.11	0.27256	.	0.000000	0.85682	D	0.000000	T	0.19046	0.0457	L	0.27975	0.815	0.29559	N	0.850751	B;B	0.26635	0.028;0.155	B;B	0.25987	0.013;0.065	T	0.24048	-1.0171	10	0.02654	T	1	.	1.1602	0.01804	0.1474:0.1773:0.1519:0.5233	.	1027;990	O60423;Q7Z485	AT8B3_HUMAN;.	D	1027;1037;990	ENSP00000311336:E1027D;ENSP00000443574:E1037D;ENSP00000437115:E990D	ENSP00000311336:E1027D	E	-	3	2	ATP8B3	1738174	0.000000	0.05858	0.999000	0.59377	0.760000	0.43138	-0.977000	0.03782	0.155000	0.19261	0.459000	0.35465	GAA		0.597	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		8	14	0	0	0	1	0	8	14					G	1787174	T	G	1787174	3	3	48	1	0	0	0	0	1	0	0	0	1196	1606	56	4	841	4	ATP8B3	19	1787174	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	333638	1787174	57341809	3922	8390										
REXO1	57455	broad.mit.edu	37	chr19	1816537	1816537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acgcagcgtgacacttgtgtCggcaaggtcagcctccgtca	12	13	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1816537C>T	ENST00000170168.4	-	14	3443	c.3349G>A	c.(3349-3351)Gac>Aac	p.D1117N	MIR1909_ENST00000411312.1_RNA|CTB-31O20.3_ENST00000586259.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1117	Exonuclease.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		ACACTTGTGTCGGCAAGGTCA	0.662																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(3349-3351)Gac>Aac		REX1, RNA exonuclease 1 homolog (S. cerevisiae)							54	44	48					19																	1816537		2202	4300	6502	SO:0001583	missense	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1816537C>T	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.3349G>A	19.37:g.1816537C>T	ENSP00000170168:p.Asp1117Asn		Somatic					p.D1117N	NM_020695.3	NP_065746.3	WXS	Illumina GAIIx	Phase_I	Q8N1G1	REXO1_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	3443	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	1117			Exonuclease.		Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.3349G>A	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	c	0.156	-1.086436	0.01873	.	.	ENSG00000079313	ENST00000170168;ENST00000543452	T	0.30448	1.53	4.29	3.19	0.36642	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.094612	0.64402	D	0.000001	T	0.05777	0.0151	N	0.00468	-1.46	0.33311	D	0.566067	B;B;B	0.25390	0.125;0.012;0.093	B;B;B	0.25140	0.058;0.004;0.058	T	0.37056	-0.9722	10	0.02654	T	1	-39.1732	3.9678	0.09439	0.0:0.6812:0.0:0.3188	.	103;426;1117	B4DVD3;B4DWY3;Q8N1G1	.;.;REXO1_HUMAN	N	1117;389	ENSP00000170168:D1117N	ENSP00000170168:D1117N	D	-	1	0	REXO1	1767537	0.989000	0.36119	0.261000	0.24466	0.006000	0.05464	2.358000	0.44134	2.206000	0.71126	0.550000	0.68814	GAC		0.662	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		23	47	0	0	0	1	0	23	47					T	1816537	C	T	1816537	3	4	48	1	0	0	0	0	1	0	0	0	13256	884	31	1	328	1	REXO1	19	1816537	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	29363	1816537	57312446	3923	8391										
SCAMP4	113178	broad.mit.edu	37	chr19	1918133	1918133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctctcttcgcagtttactgCgccaccctcggcgtcaacct	7	17	3	0	rs371988987		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1918133C>T	ENST00000316097.8	+	4	411	c.144C>T	c.(142-144)tgC>tgT	p.C48C	SCAMP4_ENST00000414057.2_3'UTR|SCAMP4_ENST00000409472.1_Silent_p.C48C	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	48					protein transport (GO:0015031)	integral component of membrane (GO:0016021)							Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTTTACTGCGCCACCCTCG	0.662																																						ENST00000316097.8																			0											c.(142-144)tgC>tgT		secretory carrier membrane protein 4		C		0,4278		0,0,2139	54	60	58		144	-8.5	0.3	19		58	1,8439		0,1,4219	no	coding-synonymous	SCAMP4	NM_079834.2		0,1,6358	TT,TC,CC		0.0118,0.0,0.0079		48/230	1918133	1,12717	2139	4220	6359	SO:0001819	synonymous_variant	113178				protein transport	integral to membrane		g.chr19:1918133C>T	AK091166	CCDS45903.1	19p13.3	2013-02-21			ENSG00000227500	ENSG00000227500		"Secretory carrier membrane proteins"	30385	protein-coding gene	gene with protein product		613764					Standard	NM_079834		Approved	FLJ33847	uc002luj.4	Q969E2	OTTHUMG00000154590	ENST00000316097.8:c.144C>T	19.37:g.1918133C>T			Somatic				SCAMP4_ENST00000409472.1_Silent_p.C48C|SCAMP4_ENST00000414057.2_3'UTR	p.C48C	NM_079834.2	NP_524558.1	WXS	Illumina GAIIx	Phase_I	Q969E2	SCAM4_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	411	+		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	48					Q8N2N1|Q8NAV0	Silent	SNP	ENST00000316097.8	37	c.144C>T	CCDS45903.1	.	.	.	.	.	.	.	.	.	.	c	1.335	-0.595609	0.03771	0.0	1.18E-4	ENSG00000227500	ENST00000414057	.	.	.	4.77	-8.49	0.00931	.	.	.	.	.	T	0.48447	0.1500	.	.	.	0.35211	D	0.775147	.	.	.	.	.	.	T	0.56141	-0.8028	4	.	.	.	-0.0015	10.6515	0.45651	0.0:0.6592:0.1139:0.227	.	.	.	.	V	58	.	.	A	+	2	0	SCAMP4	1869133	0.000000	0.05858	0.304000	0.25085	0.077000	0.17291	-1.363000	0.02592	-1.733000	0.01357	-0.481000	0.04817	GCG		0.662	SCAMP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336210.3	NM_079834		14	32	0	0	0	1	0	14	32					T	1918133	C	T	1918133	2	4	48	1	0	0	0	0	0	0	0	1	13888	776	27	1		1	SCAMP4	19	1918133	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	101596	1918133	57210850	3924	8392										
AP3D1	8943	broad.mit.edu	37	chr19	2151286	2151286	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggaccaagtcctgcagattCttgtcgaacatgcggtcgat	11	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:2151286C>A	ENST00000345016.5	-	1	279	c.48G>T	c.(46-48)aaG>aaT	p.K16N	AP3D1_ENST00000356926.4_Missense_Mutation_p.K16N|AP3D1_ENST00000350812.6_Missense_Mutation_p.K16N|AP3D1_ENST00000355272.6_Missense_Mutation_p.K16N	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	16					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)		CCTGCAGATTCTTGTCGAACA	0.692																																						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.(46-48)aaG>aaT		adaptor-related protein complex 3, delta 1 subunit							41	42	42					19																	2151286		1964	4139	6103	SO:0001583	missense	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.chr19:2151286C>A	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.48G>T	19.37:g.2151286C>A	ENSP00000344055:p.Lys16Asn		Somatic				AP3D1_ENST00000350812.6_Missense_Mutation_p.K16N|AP3D1_ENST00000356926.4_Missense_Mutation_p.K16N|AP3D1_ENST00000345016.5_Missense_Mutation_p.K16N	p.K16N	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)	1	254	-		Hepatocellular(1079;0.137)	16					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.48G>T	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201129	0.79015	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.23552	1.97;2.38;2.34;1.9	3.75	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.49355	0.1552	M	0.69823	2.125	0.25418	N	0.9883	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.93;0.982;0.994	T	0.41627	-0.9498	10	0.87932	D	0	-35.5357	15.0948	0.72226	0.0:1.0:0.0:0.0	.	16;16;16	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	N	16	ENSP00000349398:K16N;ENSP00000344055:K16N;ENSP00000347416:K16N;ENSP00000342321:K16N	ENSP00000341579:K16N	K	-	3	2	AP3D1	2102286	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.304000	0.51866	2.095000	0.63458	0.430000	0.28490	AAG		0.692	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			10	26	1	0	6.42651e-13	1	8.16824e-13	10	26					A	2151286	C	A	2151286	3	1	48	1	0	0	0	0	1	0	0	0	746	912	32	2	3691	2	AP3D1	19	2151286	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	233153	2151286	56977697	3925	8393										
ATCAY	85300	broad.mit.edu	37	chr19	3905590	3905590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atattaacgtggatgacatcGagacccccgatgagaccgac	10	11	0	3	rs201501328		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:3905590G>A	ENST00000450849.2	+	4	762	c.295G>A	c.(295-297)Gag>Aag	p.E99K	ATCAY_ENST00000600960.1_Missense_Mutation_p.E99K|ATCAY_ENST00000398448.3_Missense_Mutation_p.E105K|ATCAY_ENST00000301260.6_Missense_Mutation_p.E99K	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	99					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GGATGACATCGAGACCCCCGA	0.557													G|||	1	0.000199681	0	0.0014	5008	,	,		14162	0		0	False		,,,				2504	0					ENST00000450849.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)	7						c.(295-297)Gag>Aag		ataxia, cerebellar, Cayman type							124	123	123					19																	3905590		1966	4148	6114	SO:0001583	missense	85300				transport		protein binding	g.chr19:3905590G>A		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"Cayman ataxia", "caytaxin"	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.295G>A	19.37:g.3905590G>A	ENSP00000390941:p.Glu99Lys		Somatic				ATCAY_ENST00000301260.6_Missense_Mutation_p.E99K|ATCAY_ENST00000398448.3_Missense_Mutation_p.E105K|ATCAY_ENST00000600960.1_Missense_Mutation_p.E99K	p.E99K	NM_033064.4	NP_149053.1	WXS	Illumina GAIIx	Phase_I	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	4	762	+		Hepatocellular(1079;0.137)	99					Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	c.295G>A	CCDS45923.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	32	5.136635	0.94517	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.46063	0.91;0.91;0.88	4.77	4.77	0.60923	.	0.310345	0.34362	N	0.004023	T	0.56262	0.1973	M	0.79693	2.465	0.80722	D	1	D;P	0.55800	0.973;0.846	P;P	0.49887	0.625;0.531	T	0.63834	-0.6547	10	0.49607	T	0.09	-3.0407	16.8389	0.85963	0.0:0.0:1.0:0.0	.	105;99	B4DS11;Q86WG3	.;ATCAY_HUMAN	K	99;99;99;105;77	ENSP00000390941:E99K;ENSP00000301260:E99K;ENSP00000381466:E105K	ENSP00000301260:E99K	E	+	1	0	ATCAY	3856590	1.000000	0.71417	0.996000	0.52242	0.905000	0.53344	9.159000	0.94728	2.206000	0.71126	0.543000	0.68304	GAG		0.557	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			47	55	0	0	0	1	0	47	55					A	3905590	G	A	3905590	3	1	48	1	0	0	0	0	1	0	0	0	1077	1059	37	1	305	1	ATCAY	19	3905590	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1754304	3905590	55223393	3926	8394										
ZBTB7A	51341	broad.mit.edu	37	chr19	4054879	4054879	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcgcacacgtggctcacggCggggatctccagcaggcggg	18	13	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:4054879C>T	ENST00000322357.4	-	2	630	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.A118T	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	118					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)		TGGCTCACGGCGGGGATCTCC	0.682																																						ENST00000322357.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(352-354)Gcc>Acc		zinc finger and BTB domain containing 7A							23	21	22					19																	4054879		2194	4295	6489	SO:0001583	missense	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4054879C>T	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.352G>A	19.37:g.4054879C>T	ENSP00000323670:p.Ala118Thr		Somatic				ZBTB7A_ENST00000601588.1_Missense_Mutation_p.A118T	p.A118T	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	630	-		Hepatocellular(1079;0.137)	118					D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	c.352G>A	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803319	0.70682	.	.	ENSG00000178951	ENST00000322357	T	0.68181	-0.31	5.07	5.07	0.68467	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.074669	0.53938	D	0.000041	T	0.48696	0.1514	N	0.10707	0.03	0.34582	D	0.714555	D	0.61697	0.99	P	0.45856	0.495	T	0.60265	-0.7297	10	0.29301	T	0.29	.	12.5207	0.56058	0.1668:0.8332:0.0:0.0	.	118	O95365	ZBT7A_HUMAN	T	118	ENSP00000323670:A118T	ENSP00000323670:A118T	A	-	1	0	ZBTB7A	4005879	0.969000	0.33509	1.000000	0.80357	0.986000	0.74619	1.711000	0.37930	2.353000	0.79882	0.462000	0.41574	GCC		0.682	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		12	9	0	0	0	1	0	12	9					T	4054879	C	T	4054879	3	4	48	1	0	0	0	0	1	0	0	0	17568	768	27	1	1410	1	ZBTB7A	19	4054879	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	149289	4054879	55074104	3927	8395										
TMIGD2	126259	broad.mit.edu	37	chr19	4294612	4294612	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcagctgcggcggccccagaAccaggcaccccacacgatcg	12	18	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:4294612A>G	ENST00000301272.2	-	4	559	c.514T>C	c.(514-516)Ttc>Ctc	p.F172L	TMIGD2_ENST00000600114.1_Missense_Mutation_p.F52L|TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000595645.1_Missense_Mutation_p.F172L	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	172					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCCCAGAACCAGGCACCC	0.617																																						ENST00000301272.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19						c.(514-516)Ttc>Ctc		transmembrane and immunoglobulin domain containing 2							119	142	134					19																	4294612		2203	4300	6503	SO:0001583	missense	126259					integral to membrane		g.chr19:4294612A>G	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.514T>C	19.37:g.4294612A>G	ENSP00000301272:p.Phe172Leu		Somatic				TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Missense_Mutation_p.F52L|TMIGD2_ENST00000595645.1_Missense_Mutation_p.F172L	p.F172L	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	WXS	Illumina GAIIx	Phase_I	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	4	559	-			172					Q6UW59	Missense_Mutation	SNP	ENST00000301272.2	37	c.514T>C	CCDS12126.1	.	.	.	.	.	.	.	.	.	.	A	0.152	-1.090603	0.01858	.	.	ENSG00000167664	ENST00000301272	T	0.29397	1.57	2.94	-5.88	0.02290	.	.	.	.	.	T	0.09774	0.0240	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	0.35624	-0.9781	9	0.02654	T	1	.	0.4316	0.00472	0.2709:0.2246:0.2976:0.2069	.	172;172	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	L	172	ENSP00000301272:F172L	ENSP00000301272:F172L	F	-	1	0	TMIGD2	4245612	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-3.665000	0.00399	-2.655000	0.00422	-1.328000	0.01277	TTC		0.617	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		117	229	0	0	0	1	0	117	229					G	4294612	A	G	4294612	3	3	48	1	0	0	0	0	1	0	0	0	16246	43	2	4	342	4	TMIGD2	19	4294612	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	239733	4294612	54834371	3928	8396										
TMEM146	257062	broad.mit.edu	37	chr19	5766116	5766116	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtctctctcctctgcagtcGacactgatttcagttggctg	9	12	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:5766116G>A	ENST00000381624.3	+	17	1570	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S	CATSPERD_ENST00000381614.2_Silent_p.S161S|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	503					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)											CTCTGCAGTCGACACTGATTT	0.522																																						ENST00000381624.3																			0											c.(1507-1509)tcG>tcA		catsper channel auxiliary subunit delta							116	110	112					19																	5766116		1991	4160	6151	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5766116G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1509G>A	19.37:g.5766116G>A			Somatic				CATSPERD_ENST00000381614.2_Silent_p.S161S|CATSPERD_ENST00000309164.7_3'UTR	p.S503S	NM_152784.3	NP_689997.3	WXS	Illumina GAIIx	Phase_I	Q86XM0	TM146_HUMAN			17	1570	+			503					Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.1509G>A	CCDS12149.2																																																																																				0.522	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		14	23	0	0	0	1	0	14	23					A	5766116	G	A	5766116	2	1	48	1	0	0	0	0	0	0	0	1	16075	1045	37	1		1	TMEM146	19	5766116	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1471504	5766116	53362867	3929	8397										
FUT5	2527	broad.mit.edu	37	chr19	5867215	5867215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcgtgaagatgtcggagtcGctgcggtaggacatggtgag	19	6	0	3	rs550135835	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:5867215G>A	ENST00000588525.1	-	2	609	c.522C>T	c.(520-522)agC>agT	p.S174S	FUT5_ENST00000252675.5_Silent_p.S174S	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	174					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TGTCGGAGTCGCTGCGGTAGG	0.652													G|||	28	0.00559105	0	0	5008	,	,		14042	0		0	False		,,,				2504	0.0286					ENST00000252675.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(520-522)agC>agT		fucosyltransferase 5 (alpha (1,3) fucosyltransferase)							43	35	38					19																	5867215		2202	4298	6500	SO:0001819	synonymous_variant	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867215G>A		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"Fucosyltransferases"	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.522C>T	19.37:g.5867215G>A			Somatic				FUT5_ENST00000588525.1_Silent_p.S174S	p.S174S			WXS	Illumina GAIIx	Phase_I	Q11128	FUT5_HUMAN			5	1084	-			174					A8K4X2	Silent	SNP	ENST00000588525.1	37	c.522C>T	CCDS12154.1																																																																																				0.652	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		24	43	0	0	0	1	0	24	43					A	5867215	G	A	5867215	2	1	48	1	0	0	0	0	0	0	0	1	6115	1078	38	1		1	FUT5	19	5867215	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	101099	5867215	53261768	3930	8398										
NDUFA11	126328	broad.mit.edu	37	chr19	5894850	5894850	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acacgcaggcggcggcgccaAtcccgtagttgtgcgctgtg	15	13	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:5894850A>C	ENST00000308961.4	-	4	376	c.329T>G	c.(328-330)aTt>aGt	p.I110S	FUT5_ENST00000252675.5_Intron|NDUFA11_ENST00000592634.1_3'UTR|NDUFA11_ENST00000418389.2_Intron|AC024592.12_ENST00000586349.1_Intron	NM_175614.4	NP_783313.1	Q86Y39	NDUAB_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa	110					cellular metabolic process (GO:0044237)|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)				central_nervous_system(1)|lung(1)	2						GGCGGCGCCAATCCCGTAGTT	0.682																																						ENST00000308961.4																			0				central_nervous_system(1)|lung(1)	2						c.(328-330)aTt>aGt		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa	NADH(DB00157)						31	27	29					19																	5894850		2200	4300	6500	SO:0001583	missense	126328				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I	protein transporter activity	g.chr19:5894850A>C	AJ539081	CCDS12155.1, CCDS54203.1	19p13.3	2011-07-04				ENSG00000174886		"Mitochondrial respiratory chain complex / Complex I"	20371	protein-coding gene	gene with protein product	"complex I B14.7 subunit"	612638				12381726	Standard	NM_001193375		Approved	B14.7	uc002mdp.2	Q86Y39		ENST00000308961.4:c.329T>G	19.37:g.5894850A>C	ENSP00000311740:p.Ile110Ser		Somatic				NDUFA11_ENST00000418389.2_Intron|AC024592.12_ENST00000586349.1_Intron|FUT5_ENST00000252675.5_Intron|NDUFA11_ENST00000592634.1_3'UTR	p.I110S	NM_175614.4	NP_783313.1	WXS	Illumina GAIIx	Phase_I	Q86Y39	NDUAB_HUMAN			4	376	-			110					C9JT23|Q6ZS66	Missense_Mutation	SNP	ENST00000308961.4	37	c.329T>G	CCDS12155.1	.	.	.	.	.	.	.	.	.	.	A	11.44	1.638417	0.29157	.	.	ENSG00000174886	ENST00000308961	T	0.26810	1.71	4.09	-0.167	0.13347	.	0.122391	0.53938	U	0.000057	T	0.14485	0.0350	L	0.40543	1.245	0.09310	N	1	B	0.34181	0.44	B	0.28916	0.096	T	0.12553	-1.0543	10	0.56958	D	0.05	.	3.3691	0.07213	0.4125:0.2278:0.3597:0.0	.	110	Q86Y39	NDUAB_HUMAN	S	110	ENSP00000311740:I110S	ENSP00000311740:I110S	I	-	2	0	NDUFA11	5845850	0.001000	0.12720	0.034000	0.17996	0.004000	0.04260	0.888000	0.28268	0.378000	0.24764	0.260000	0.18958	ATT		0.682	NDUFA11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452218.1	NM_175614		4	10	0	0	0	1	0	4	10					C	5894850	A	C	5894850	3	2	48	1	0	0	0	0	1	0	0	0	10270	101	4	4	100	4	NDUFA11	19	5894850	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	27635	5894850	53234133	3931	8399										
MLLT1	4298	broad.mit.edu	37	chr19	6262312	6262312	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctctactttgtaggggggcTccttgcacactaaaaagaaa	9	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:6262312T>C	ENST00000252674.7	-	3	366	c.203A>G	c.(202-204)gAg>gGg	p.E68G	CTC-503J8.4_ENST00000588192.1_RNA	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	68	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				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)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GTAGGGGGGCTCCTTGCACAC	0.567			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		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(202-204)gAg>gGg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							71	67	68					19																	6262312		2203	4300	6503	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6262312T>C		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.203A>G	19.37:g.6262312T>C	ENSP00000252674:p.Glu68Gly		Somatic					p.E68G	NM_005934.3	NP_005925.2	WXS	Illumina GAIIx	Phase_I	Q03111	ENL_HUMAN			3	366	-			68			YEATS.		Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.203A>G	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.763896	0.89932	.	.	ENSG00000130382	ENST00000252674	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.75568	0.3867	M	0.69185	2.1	0.80722	D	1	D	0.57571	0.98	D	0.64776	0.929	T	0.78259	-0.2273	9	0.72032	D	0.01	-33.3007	13.7235	0.62743	0.0:0.0:0.0:1.0	.	68	Q03111	ENL_HUMAN	G	68	.	ENSP00000252674:E68G	E	-	2	0	MLLT1	6213312	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.946000	0.87746	2.132000	0.65825	0.459000	0.35465	GAG		0.567	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		16	37	0	0	0	1	0	16	37					C	6262312	T	C	6262312	3	2	48	1	0	0	0	0	1	0	0	0	9634	1551	54	4	1516	4	MLLT1	19	6262312	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	367462	6262312	52866671	3932	8400										
KHSRP	8570	broad.mit.edu	37	chr19	6416504	6416504	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcccgccccaacccacctcGatcttttcctcgataagctg	6	18	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:6416504G>A	ENST00000398148.3	-	14	1577	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	495	Gly-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.I495I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						AACCCACCTCGATCTTTTCCT	0.587																																					Colon(55;593 1006 2067 9135 22980)	ENST00000398148.3																			1	Substitution - coding silent(1)	p.I495I(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						c.(1483-1485)atC>atT		KH-type splicing regulatory protein							27	29	28					19																	6416504		1880	4092	5972	SO:0001819	synonymous_variant	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6416504G>A	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1485C>T	19.37:g.6416504G>A			Somatic				MIR3940_ENST00000579148.1_RNA	p.I495I	NM_003685.2	NP_003676.2	WXS	Illumina GAIIx	Phase_I	Q92945	FUBP2_HUMAN			14	1577	-			495			Gly-rich.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Silent	SNP	ENST00000398148.3	37	c.1485C>T	CCDS45936.1																																																																																				0.587	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			8	17	0	0	0	1	0	8	17					A	6416504	G	A	6416504	2	1	48	1	0	0	0	0	0	0	0	1	8160	1048	37	1		1	KHSRP	19	6416504	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	154192	6416504	52712479	3933	8401										
EMR1	2015	broad.mit.edu	37	chr19	6906479	6906479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtaaggaagatgtgatacccGataataagcagatccagcaa	10	7	0	3	rs151096072		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:6906479G>A	ENST00000312053.4	+	9	1022	c.985G>A	c.(985-987)Gat>Aat	p.D329N	EMR1_ENST00000381404.4_Missense_Mutation_p.D277N|EMR1_ENST00000250572.8_Missense_Mutation_p.D329N|EMR1_ENST00000450315.3_Missense_Mutation_p.D152N|EMR1_ENST00000381407.5_Missense_Mutation_p.D188N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	329	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D329Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGTGATACCCGATAATAAGCA	0.393																																						ENST00000312053.4																			1	Substitution - Missense(1)	p.D329Y(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(985-987)Gat>Aat		egf-like module containing, mucin-like, hormone receptor-like 1		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	140	134	136		985	-4.2	0	19	dbSNP_134	136	0,8600		0,0,4300	no	missense	EMR1	NM_001974.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	329/887	6906479	1,13005	2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6906479G>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.985G>A	19.37:g.6906479G>A	ENSP00000311545:p.Asp329Asn		Somatic				EMR1_ENST00000450315.3_Missense_Mutation_p.D152N|EMR1_ENST00000381404.4_Missense_Mutation_p.D277N|EMR1_ENST00000381407.5_Missense_Mutation_p.D188N|EMR1_ENST00000250572.8_Missense_Mutation_p.D329N	p.D329N	NM_001974.4	NP_001965.3	WXS	Illumina GAIIx	Phase_I	Q14246	EMR1_HUMAN			9	1022	+	all_hematologic(4;0.166)		329			Ser/Thr-rich.		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.985G>A	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	1.146	-0.648008	0.03506	2.27E-4	0.0	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.77750	-1.09;-1.11;-1.12;0.05;0.39	2.98	-4.22	0.03800	.	.	.	.	.	T	0.48786	0.1519	N	0.04203	-0.255	0.09310	N	1	B;B;B;B;B	0.16396	0.017;0.008;0.011;0.017;0.006	B;B;B;B;B	0.11329	0.005;0.004;0.002;0.006;0.001	T	0.34279	-0.9835	9	0.17369	T	0.5	.	6.4188	0.21732	0.2627:0.1813:0.556:0.0	.	152;188;329;277;329	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	N	329;329;277;329;188;152	ENSP00000311545:D329N;ENSP00000370811:D277N;ENSP00000250572:D329N;ENSP00000370814:D188N;ENSP00000405974:D152N	ENSP00000250572:D329N	D	+	1	0	EMR1	6857479	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.398000	0.02509	-1.026000	0.03330	-1.267000	0.01435	GAT		0.393	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			29	43	0	0	0	1	0	29	43					A	6906479	G	A	6906479	3	1	48	1	0	0	0	0	1	0	0	0	5106	1058	37	1	1019	1	EMR1	19	6906479	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	489975	6906479	52222504	3934	8402										
INSR	3643	broad.mit.edu	37	chr19	7125368	7125368	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgctctcggagactggctgActcgttgaccgtcttcaccg	11	15	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:7125368A>G	ENST00000302850.5	-	17	3326	c.3184T>C	c.(3184-3186)Tca>Cca	p.S1062P	INSR_ENST00000341500.5_Missense_Mutation_p.S1050P	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1062	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)"	AGACTGGCTGACTCGTTGACC	0.612																																						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.(3148-3150)Tca>Cca		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						151	113	126					19																	7125368		2203	4300	6503	SO:0001583	missense	0				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.chr19:7125368A>G	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.3184T>C	19.37:g.7125368A>G	ENSP00000303830:p.Ser1062Pro		Somatic				INSR_ENST00000302850.5_Missense_Mutation_p.S1062P	p.S1050P	NM_001079817.1	NP_001073285.1	WXS	Illumina GAIIx	Phase_I	P06213	INSR_HUMAN			16	3187	-			1062			Protein kinase.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.3148T>C	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	A	18.20	3.570458	0.65765	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.83335	-1.71;-1.71	5.06	1.5	0.22942	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.186131	0.26096	N	0.026374	D	0.84279	0.5437	L	0.39566	1.225	0.58432	D	0.999997	P;D	0.53312	0.902;0.959	P;P	0.61477	0.713;0.889	T	0.82008	-0.0670	10	0.52906	T	0.07	.	12.0051	0.53255	0.7399:0.2601:0.0:0.0	.	1050;1062	P06213-2;P06213	.;INSR_HUMAN	P	1062;1050	ENSP00000303830:S1062P;ENSP00000342838:S1050P	ENSP00000303830:S1062P	S	-	1	0	INSR	7076368	1.000000	0.71417	0.882000	0.34594	0.967000	0.64934	3.116000	0.50399	0.043000	0.15746	0.533000	0.62120	TCA		0.612	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			29	67	0	0	0	1	0	29	67					G	7125368	A	G	7125368	3	3	48	1	0	0	0	0	1	0	0	0	7782	275	10	4	988	4	INSR	19	7125368	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	218889	7125368	52003615	3935	8403										
ARHGEF18	23370	broad.mit.edu	37	chr19	7523545	7523545	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaaagaggacaggaacgccTggatggcccacatccaaagg	12	12	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:7523545T>C	ENST00000359920.6	+	9	2018	c.1765T>C	c.(1765-1767)Tgg>Cgg	p.W589R	CTD-2207O23.3_ENST00000593531.1_Silent_p.P546P|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.W431R	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	589	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CAGGAACGCCTGGATGGCCCA	0.582																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(1765-1767)Tgg>Cgg		Rho/Rac guanine nucleotide exchange factor (GEF) 18							70	65	67					19																	7523545		2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7523545T>C	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1765T>C	19.37:g.7523545T>C	ENSP00000352995:p.Trp589Arg		Somatic				CTD-2207O23.3_ENST00000593531.1_Silent_p.P546P|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.W431R	p.W589R	NM_001130955.1	NP_001124427.1	WXS	Illumina GAIIx	Phase_I	Q6ZSZ5	ARHGI_HUMAN			9	2018	+		Renal(5;0.0902)	589			PH.		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.1765T>C	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703279	0.68501	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	D;D	0.96011	-3.88;-3.88	4.99	4.99	0.66335	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.52532	D	0.000068	D	0.97964	0.9330	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98816	1.0745	10	0.87932	D	0	-20.1961	12.6682	0.56853	0.0:0.0:0.0:1.0	.	431;589	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	R	431;589	ENSP00000319200:W431R;ENSP00000352995:W589R	ENSP00000319200:W431R	W	+	1	0	ARHGEF18	7429545	1.000000	0.71417	0.896000	0.35187	0.702000	0.40608	7.691000	0.84191	1.885000	0.54596	0.482000	0.46254	TGG		0.582	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		10	48	0	0	0	1	0	10	48					C	7523545	T	C	7523545	3	2	48	1	0	0	0	0	1	0	0	0	901	1580	55	4	1799	4	ARHGEF18	19	7523545	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	398177	7523545	51605438	3936	8404										
SNAPC2	6618	broad.mit.edu	37	chr19	7987561	7987561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgagcacagcgaactgaaatCgccttggcaagcagctggga	13	11	0	1	rs537522374		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:7987561C>T	ENST00000221573.6	+	5	968	c.917C>T	c.(916-918)tCg>tTg	p.S306L	SNAPC2_ENST00000597584.1_Missense_Mutation_p.S69L	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	306					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						GAACTGAAATCGCCTTGGCAA	0.682													C|||	1	0.000199681	8e-04	0	5008	,	,		15815	0		0	False		,,,				2504	0					ENST00000221573.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(916-918)tCg>tTg		small nuclear RNA activating complex, polypeptide 2, 45kDa							87	111	103					19																	7987561		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.chr19:7987561C>T	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.917C>T	19.37:g.7987561C>T	ENSP00000221573:p.Ser306Leu		Somatic				SNAPC2_ENST00000597584.1_Missense_Mutation_p.S69L	p.S306L	NM_003083.3	NP_003074.1	WXS	Illumina GAIIx	Phase_I	Q13487	SNPC2_HUMAN			5	968	+			306					B2RBZ6|D6W663|Q13486	Missense_Mutation	SNP	ENST00000221573.6	37	c.917C>T	CCDS12190.1	.	.	.	.	.	.	.	.	.	.	C	4.979	0.181895	0.09495	.	.	ENSG00000104976	ENST00000221573	T	0.44083	0.93	4.27	1.94	0.25998	.	0.940552	0.08820	N	0.888918	T	0.24967	0.0606	N	0.22421	0.69	0.09310	N	1	B	0.22683	0.073	B	0.15484	0.013	T	0.18524	-1.0334	10	0.29301	T	0.29	-6.3181	4.0733	0.09892	0.2318:0.6431:0.0:0.1252	.	306	Q13487	SNPC2_HUMAN	L	306	ENSP00000221573:S306L	ENSP00000221573:S306L	S	+	2	0	SNAPC2	7893561	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	0.823000	0.27366	1.113000	0.41760	0.455000	0.32223	TCG		0.682	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083		45	79	0	0	0	1	0	45	79					T	7987561	C	T	7987561	3	4	48	1	0	0	0	0	1	0	0	0	14850	893	31	1	935	1	SNAPC2	19	7987561	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	464016	7987561	51141422	3937	8405										
FBN3	84467	broad.mit.edu	37	chr19	8191614	8191614	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacctagacagaaggtaccaGaggggtccagccggctgcca	13	13	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:8191614G>T	ENST00000600128.1	-	19	2813	c.2399C>A	c.(2398-2400)tCt>tAt	p.S800Y	FBN3_ENST00000601739.1_Missense_Mutation_p.S800Y|FBN3_ENST00000270509.2_Missense_Mutation_p.S800Y			Q75N90	FBN3_HUMAN	fibrillin 3	800	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAAGGTACCAGAGGGGTCCAG	0.667																																						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.(2398-2400)tCt>tAt		fibrillin 3							32	36	34					19																	8191614		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8191614G>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.2399C>A	19.37:g.8191614G>T	ENSP00000470498:p.Ser800Tyr		Somatic				FBN3_ENST00000601739.1_Missense_Mutation_p.S800Y|FBN3_ENST00000270509.2_Missense_Mutation_p.S800Y	p.S800Y			WXS	Illumina GAIIx	Phase_I	Q75N90	FBN3_HUMAN			19	2813	-			800			EGF-like 10; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.2399C>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	g	12.86	2.065772	0.36470	.	.	ENSG00000142449	ENST00000270509	D	0.88046	-2.33	3.52	2.47	0.30058	Matrix fibril-associated (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.209202	0.38326	U	0.001740	D	0.86573	0.5965	L	0.48362	1.52	0.23192	N	0.998146	D	0.55385	0.971	P	0.55161	0.77	T	0.78109	-0.2332	10	0.72032	D	0.01	.	7.4615	0.27298	0.1063:0.228:0.6657:0.0	.	800	Q75N90	FBN3_HUMAN	Y	800	ENSP00000270509:S800Y	ENSP00000270509:S800Y	S	-	2	0	FBN3	8097614	0.984000	0.35163	0.254000	0.24359	0.185000	0.23345	2.495000	0.45337	0.474000	0.27392	0.491000	0.48974	TCT		0.667	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		21	39	1	0	8.34094e-07	1	9.42356e-07	21	39					T	8191614	G	T	8191614	3	4	48	1	0	0	0	0	1	0	0	0	5712	942	33	2	6214	2	FBN3	19	8191614	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	204053	8191614	50937369	3938	8406										
MYO1F	4542	broad.mit.edu	37	chr19	8612994	8612994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagttgatgcaaaactgctCgaagccatttttctgcagaa	9	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:8612994C>T	ENST00000338257.8	-	12	1462	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	AC092316.2_ENST00000581156.1_RNA|AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	399	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						CAAAACTGCTCGAAGCCATTT	0.547																																						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.(1195-1197)Gag>Aag		myosin IF							147	142	144					19																	8612994		1930	4141	6071	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8612994C>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.1195G>A	19.37:g.8612994C>T	ENSP00000344871:p.Glu399Lys		Somatic					p.E399K	NM_012335.3	NP_036467.2	WXS	Illumina GAIIx	Phase_I	O00160	MYO1F_HUMAN			12	1462	-			399			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.1195G>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952730	0.92660	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.97888	-4.59	4.92	4.92	0.64577	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.99432	0.9799	H	0.99877	4.88	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.97847	1.0272	10	0.87932	D	0	.	17.1152	0.86687	0.0:1.0:0.0:0.0	.	399	O00160	MYO1F_HUMAN	K	444;399	ENSP00000344871:E399K	ENSP00000304899:E444K	E	-	1	0	MYO1F	8518994	1.000000	0.71417	0.999000	0.59377	0.786000	0.44442	7.818000	0.86416	2.282000	0.76494	0.563000	0.77884	GAG		0.547	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			94	117	0	0	0	1	0	94	117					T	8612994	C	T	8612994	3	4	48	1	0	0	0	0	1	0	0	0	10082	893	31	1	2169	1	MYO1F	19	8612994	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	421380	8612994	50515989	3939	8407										
ZNF558	148156	broad.mit.edu	37	chr19	8922567	8922567	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttctccccattatggattCtcttatgaatagtaaggtaa	7	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:8922567C>A	ENST00000601372.1	-	10	1310	c.599G>T	c.(598-600)aGa>aTa	p.R200I	ZNF558_ENST00000301475.1_Missense_Mutation_p.R200I|ZNF558_ENST00000444186.2_Missense_Mutation_p.R129I			Q96NG5	ZN558_HUMAN	zinc finger protein 558	200					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						ATTATGGATTCTCTTATGAAT	0.408																																						ENST00000601372.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(598-600)aGa>aTa		zinc finger protein 558							72	71	71					19																	8922567		2203	4299	6502	SO:0001583	missense	148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8922567C>A	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.599G>T	19.37:g.8922567C>A	ENSP00000471277:p.Arg200Ile		Somatic				ZNF558_ENST00000444186.2_Missense_Mutation_p.R129I|ZNF558_ENST00000301475.1_Missense_Mutation_p.R200I	p.R200I			WXS	Illumina GAIIx	Phase_I	Q96NG5	ZN558_HUMAN			10	1310	-			200					A8K5F0|B7Z798	Missense_Mutation	SNP	ENST00000601372.1	37	c.599G>T	CCDS12208.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307753	0.81247	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.02446	4.29;4.29	4.98	3.92	0.45320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000314	T	0.12008	0.0292	M	0.72353	2.195	0.50467	D	0.999874	D	0.89917	1.0	D	0.73380	0.98	T	0.00110	-1.2047	10	0.59425	D	0.04	-17.1021	11.4699	0.50261	0.0:0.9089:0.0:0.0911	.	200	Q96NG5	ZN558_HUMAN	I	200;129	ENSP00000301475:R200I;ENSP00000410703:R129I	ENSP00000301475:R200I	R	-	2	0	ZNF558	8783567	0.000000	0.05858	0.974000	0.42286	0.992000	0.81027	0.597000	0.24059	2.584000	0.87258	0.591000	0.81541	AGA		0.408	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		4	54	1	0	2.56e-06	1	2.86294e-06	4	54					A	8922567	C	A	8922567	3	1	48	1	0	0	0	0	1	0	0	0	18004	913	32	2	613	2	ZNF558	19	8922567	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	309573	8922567	50206416	3940	8408										
MUC16	94025	broad.mit.edu	37	chr19	9014641	9014641	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccctgtccactccagggctTttggggtcaagacggtgggt	14	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9014641T>C	ENST00000397910.4	-	31	38537	c.38334A>G	c.(38332-38334)aaA>aaG	p.K12778K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12780	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						CTCCAGGGCTTTTGGGGTCAA	0.557																																						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.(38332-38334)aaA>aaG		mucin 16, cell surface associated							79	64	68					19																	9014641		1826	4060	5886	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9014641T>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.38334A>G	19.37:g.9014641T>C			Somatic					p.K12778K	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			31	38537	-			12780	Missing (in Ref. 3; AAK74120).		SEA 5.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.38334A>G	CCDS54212.1																																																																																				0.557	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		52	70	0	0	0	1	0	52	70					C	9014641	T	C	9014641	2	2	48	1	0	0	0	0	0	0	0	1	9982	1838	64	4		4	MUC16	19	9014641	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	92074	9014641	50114342	3941	8409										
MUC16	94025	broad.mit.edu	37	chr19	9046194	9046194	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttgtctgagttgggagagCtgtgctagtctctgcaccag	14	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9046194C>A	ENST00000397910.4	-	5	35640	c.35437G>T	c.(35437-35439)Gct>Tct	p.A11813S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11815	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.A7446T(1)|p.A11813T(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						GTTGGGAGAGCTGTGCTAGTC	0.463																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.A7446T(1)|p.A11813T(1)	central_nervous_system(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.(35437-35439)Gct>Tct		mucin 16, cell surface associated							82	81	81					19																	9046194		2043	4190	6233	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046194C>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.35437G>T	19.37:g.9046194C>A	ENSP00000381008:p.Ala11813Ser		Somatic					p.A11813S	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			5	35640	-			11815			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35437G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	C	7.899	0.733988	0.15574	.	.	ENSG00000181143	ENST00000397910	T	0.02345	4.33	3.14	0.907	0.19321	.	.	.	.	.	T	0.05227	0.0139	L	0.42245	1.32	.	.	.	D	0.58268	0.982	P	0.54965	0.765	T	0.33007	-0.9885	8	0.87932	D	0	.	3.2434	0.06788	0.0:0.4893:0.2443:0.2664	.	11813	B5ME49	.	S	11813	ENSP00000381008:A11813S	ENSP00000381008:A11813S	A	-	1	0	MUC16	8907194	0.000000	0.05858	0.002000	0.10522	0.040000	0.13550	-0.814000	0.04486	0.322000	0.23283	0.305000	0.20034	GCT		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	42	1	0	0.00024832	1	0.000265255	4	42					A	9046194	C	A	9046194	3	1	48	1	0	0	0	0	1	0	0	0	9982	797	28	5	8406	5	MUC16	19	9046194	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	31553	9046194	50082789	3942	8410										
MUC16	94025	broad.mit.edu	37	chr19	9049889	9049889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catctagagtttgaataaccGgacttctctctgccccagaa	7	12	3	3	rs368049820		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9049889G>A	ENST00000397910.4	-	5	31945	c.31742C>T	c.(31741-31743)cCg>cTg	p.P10581L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10583	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						TTGAATAACCGGACTTCTCTC	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.(31741-31743)cCg>cTg		mucin 16, cell surface associated			LEU/PRO	0,3770		0,0,1885	125	116	119		31742	2	0	19		119	2,8204		0,2,4101	no	missense	MUC16	NM_024690.2	98	0,2,5986	AA,AG,GG		0.0244,0.0,0.0167	possibly-damaging	10581/14508	9049889	2,11974	1885	4103	5988	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049889G>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.31742C>T	19.37:g.9049889G>A	ENSP00000381008:p.Pro10581Leu		Somatic					p.P10581L	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			5	31945	-			10583			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.31742C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.733	0.504039	0.12822	0.0	2.44E-4	ENSG00000181143	ENST00000397910	T	0.03212	4.01	3.01	1.96	0.26148	.	.	.	.	.	T	0.03095	0.0091	L	0.40543	1.245	.	.	.	P	0.42161	0.772	B	0.33042	0.157	T	0.30909	-0.9962	8	0.87932	D	0	.	6.1626	0.20372	0.1417:0.0:0.8583:0.0	.	10581	B5ME49	.	L	10581	ENSP00000381008:P10581L	ENSP00000381008:P10581L	P	-	2	0	MUC16	8910889	0.006000	0.16342	0.001000	0.08648	0.002000	0.02628	1.630000	0.37081	0.818000	0.34468	0.450000	0.29827	CCG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		47	55	0	0	0	1	0	47	55					A	9049889	G	A	9049889	3	1	48	1	0	0	0	0	1	0	0	0	9982	1116	39	1	12101	1	MUC16	19	9049889	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3695	9049889	50079094	3943	8411										
MUC16	94025	broad.mit.edu	37	chr19	9062453	9062453	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttccaaagtggtcagtctCtcatgggaggtgctgctcaa	11	10	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9062453C>T	ENST00000397910.4	-	3	25196	c.24993G>A	c.(24991-24993)gaG>gaA	p.E8331E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8333	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						TGGTCAGTCTCTCATGGGAGG	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.(24991-24993)gaG>gaA		mucin 16, cell surface associated							159	153	155					19																	9062453		2041	4187	6228	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062453C>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.24993G>A	19.37:g.9062453C>T			Somatic					p.E8331E	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			3	25196	-			8333			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.24993G>A	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		42	88	0	0	0	1	0	42	88					T	9062453	C	T	9062453	2	4	48	1	0	0	0	0	0	0	0	1	9982	912	32	3		3	MUC16	19	9062453	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	12564	9062453	50066530	3944	8412										
MUC16	94025	broad.mit.edu	37	chr19	9085753	9085753	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggatgtgctgcttccagaaGagactgaattctcatgggta	12	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9085753G>T	ENST00000397910.4	-	1	6265	c.6062C>A	c.(6061-6063)tCt>tAt	p.S2021Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2021	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						GCTTCCAGAAGAGACTGAATT	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.(6061-6063)tCt>tAt		mucin 16, cell surface associated							119	114	116					19																	9085753		2006	4176	6182	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085753G>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.6062C>A	19.37:g.9085753G>T	ENSP00000381008:p.Ser2021Tyr		Somatic					p.S2021Y	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	6265	-			2021			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6062C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.252	-0.618220	0.03663	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	0.235	0.235	0.15431	.	.	.	.	.	T	0.04048	0.0113	N	0.08118	0	.	.	.	D	0.58970	0.984	D	0.63877	0.919	T	0.45293	-0.9271	7	0.87932	D	0	.	.	.	.	.	2021	B5ME49	.	Y	2021	ENSP00000381008:S2021Y	ENSP00000381008:S2021Y	S	-	2	0	MUC16	8946753	0.003000	0.15002	0.159000	0.22649	0.161000	0.22273	-0.197000	0.09518	0.308000	0.22923	0.313000	0.20887	TCT		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		33	64	1	0	8.73648e-17	1	1.16604e-16	33	64					T	9085753	G	T	9085753	3	4	48	1	0	0	0	0	1	0	0	0	9982	942	33	2	37797	2	MUC16	19	9085753	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	23300	9085753	50043230	3945	8413										
MUC16	94025	broad.mit.edu	37	chr19	9089181	9089181	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttactctggaaacagaagtCtcaggttgagacacagatgg	11	8	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9089181C>A	ENST00000397910.4	-	1	2837	c.2634G>T	c.(2632-2634)gaG>gaT	p.E878D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	878	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						AAACAGAAGTCTCAGGTTGAG	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.(2632-2634)gaG>gaT		mucin 16, cell surface associated							86	88	87					19																	9089181		1954	4138	6092	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089181C>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.2634G>T	19.37:g.9089181C>A	ENSP00000381008:p.Glu878Asp		Somatic					p.E878D	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	2837	-			878			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2634G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.146	0.025392	0.08054	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	1.45	0.275	0.15659	.	.	.	.	.	T	0.02455	0.0075	N	0.19112	0.55	.	.	.	D	0.53462	0.96	P	0.45406	0.479	T	0.45116	-0.9283	8	0.87932	D	0	.	4.7352	0.12984	0.3654:0.6346:0.0:0.0	.	878	B5ME49	.	D	878	ENSP00000381008:E878D	ENSP00000381008:E878D	E	-	3	2	MUC16	8950181	0.000000	0.05858	0.001000	0.08648	0.168000	0.22595	-0.082000	0.11304	0.147000	0.19030	0.205000	0.17691	GAG		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	30	1	0	1.11149e-13	1	1.42822e-13	11	30					A	9089181	C	A	9089181	3	1	48	1	0	0	0	0	1	0	0	0	9982	912	32	2	41225	2	MUC16	19	9089181	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3428	9089181	50039802	3946	8414										
OR7G2	390882	broad.mit.edu	37	chr19	9213578	9213578	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcataggccattgctgcaagGagacaattttccaagccagc	9	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9213578G>T	ENST00000305456.2	-	1	404	c.405C>A	c.(403-405)ctC>ctA	p.L135L		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	114						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TTGCTGCAAGGAGACAATTTT	0.507																																					Esophageal Squamous(67;143 1448 28637 40648)	ENST00000305456.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						c.(403-405)ctC>ctA		olfactory receptor, family 7, subfamily G, member 2							101	94	96					19																	9213578		2203	4300	6503	SO:0001819	synonymous_variant	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213578G>T		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"GPCR / Class A : Olfactory receptors"	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.405C>A	19.37:g.9213578G>T			Somatic					p.L135L	NM_001005193.1	NP_001005193.1	WXS	Illumina GAIIx	Phase_I	Q8NG99	OR7G2_HUMAN			1	404	-			114					Q6IFJ4|Q96RA0	Silent	SNP	ENST00000305456.2	37	c.405C>A	CCDS32897.1																																																																																				0.507	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			17	76	1	0	1.15088e-07	1	1.32965e-07	17	76					T	9213578	G	T	9213578	2	4	48	1	0	0	0	0	0	0	0	1	11232	1161	41	2		2	OR7G2	19	9213578	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	124397	9213578	49915405	3947	8415										
ZNF317	57693	broad.mit.edu	37	chr19	9271130	9271130	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcccttaggagccacgcaaGaactcacctcaaagagaagc	9	13	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9271130G>T	ENST00000247956.6	+	7	1114	c.809G>T	c.(808-810)aGa>aTa	p.R270I	ZNF317_ENST00000360385.3_Missense_Mutation_p.R238I	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	270					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						AGCCACGCAAGAACTCACCTC	0.567																																						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.(808-810)aGa>aTa		zinc finger protein 317							81	80	80					19																	9271130		2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9271130G>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.809G>T	19.37:g.9271130G>T	ENSP00000247956:p.Arg270Ile		Somatic				ZNF317_ENST00000360385.3_Missense_Mutation_p.R238I	p.R270I	NM_020933.4	NP_065984.3	WXS	Illumina GAIIx	Phase_I	Q96PQ6	ZN317_HUMAN			7	1114	+			270					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.809G>T	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965793	0.53507	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.24908	1.83;1.83	3.61	1.46	0.22682	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000464	T	0.39462	0.1079	M	0.71296	2.17	0.09310	N	0.999996	D;D	0.71674	0.998;0.997	P;P	0.62560	0.904;0.805	T	0.10520	-1.0626	10	0.59425	D	0.04	-28.8422	5.8059	0.18440	0.3427:0.0:0.6573:0.0	.	238;270	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	I	270;238	ENSP00000247956:R270I;ENSP00000353554:R238I	ENSP00000247956:R270I	R	+	2	0	ZNF317	9132130	0.001000	0.12720	0.002000	0.10522	0.788000	0.44548	1.021000	0.30040	0.522000	0.28464	0.591000	0.81541	AGA		0.567	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		40	66	1	0	1.47197e-15	1	1.94065e-15	40	66					T	9271130	G	T	9271130	3	4	48	1	0	0	0	0	1	0	0	0	17850	942	33	2	831	2	ZNF317	19	9271130	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	57552	9271130	49857853	3948	8416										
OR7D2	162998	broad.mit.edu	37	chr19	9296569	9296569	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctgtccatgtacctggtgAcggtgctgggaaacctgctc	12	12	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9296569A>G	ENST00000344248.2	+	1	291	c.112A>G	c.(112-114)Acg>Gcg	p.T38A		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	38					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						GTACCTGGTGACGGTGCTGGG	0.507																																						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.(112-114)Acg>Gcg		olfactory receptor, family 7, subfamily D, member 2							95	89	91					19																	9296569		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.chr19:9296569A>G	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.112A>G	19.37:g.9296569A>G	ENSP00000345563:p.Thr38Ala		Somatic					p.T38A	NM_175883.2	NP_787079.1	WXS	Illumina GAIIx	Phase_I	Q96RA2	OR7D2_HUMAN			1	291	+			38					Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.112A>G	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	A	5.858	0.342487	0.11069	.	.	ENSG00000188000	ENST00000344248	T	0.00504	6.94	2.21	2.21	0.28008	.	0.414784	0.17596	U	0.168600	T	0.00524	0.0017	M	0.62209	1.925	0.09310	N	1	B	0.19200	0.034	B	0.23852	0.049	T	0.42447	-0.9451	10	0.62326	D	0.03	.	5.5744	0.17215	0.8526:0.0:0.1474:0.0	.	38	Q96RA2	OR7D2_HUMAN	A	38	ENSP00000345563:T38A	ENSP00000345563:T38A	T	+	1	0	OR7D2	9157569	0.231000	0.23751	0.384000	0.26145	0.063000	0.16089	4.450000	0.60041	1.296000	0.44742	0.418000	0.28097	ACG		0.507	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			12	83	0	0	0	1	0	12	83					G	9296569	A	G	9296569	3	3	48	1	0	0	0	0	1	0	0	0	11228	275	10	4	114	4	OR7D2	19	9296569	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	25439	9296569	49832414	3949	8417										
OR7E24	26648	broad.mit.edu	37	chr19	9362120	9362120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatggatgacatgctcctgaGtgtgatggcctatgaccggt	13	8	0	4	rs201058180		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9362120G>A	ENST00000456448.1	+	1	515	c.401G>A	c.(400-402)aGt>aAt	p.S134N		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ATGCTCCTGAGTGTGATGGCC	0.478																																						ENST00000456448.1																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						c.(400-402)aGt>aAt		olfactory receptor, family 7, subfamily E, member 24							124	128	127					19																	9362120		2199	4300	6499	SO:0001583	missense	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9362120G>A	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"GPCR / Class A : Olfactory receptors"	8396	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily E, member 24 pseudogene"	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.401G>A	19.37:g.9362120G>A	ENSP00000387523:p.Ser134Asn		Somatic					p.S134N	NM_001079935.1	NP_001073404.1	WXS	Illumina GAIIx	Phase_I	Q6IFN5	O7E24_HUMAN			1	515	+			134					B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	37	c.401G>A	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	g	8.186	0.795026	0.16327	.	.	ENSG00000237521	ENST00000456448	T	0.00902	5.56	2.39	0.0262	0.14149	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01661	0.0053	M	0.69463	2.115	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.33752	-0.9856	9	0.66056	D	0.02	.	12.2993	0.54866	0.0:0.8201:0.1799:0.0	.	134	Q6IFN5	O7E24_HUMAN	N	134	ENSP00000387523:S134N	ENSP00000387523:S134N	S	+	2	0	OR7E24	9223120	0.000000	0.05858	0.035000	0.18076	0.062000	0.15995	0.122000	0.15687	-0.035000	0.13691	-1.799000	0.00621	AGT		0.478	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			21	35	0	0	0	1	0	21	35					A	9362120	G	A	9362120	3	1	48	1	0	0	0	0	1	0	0	0	11230	1029	36	3	403	3	OR7E24	19	9362120	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	65551	9362120	49766863	3950	8418										
ZNF560	147741	broad.mit.edu	37	chr19	9577913	9577913	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catttcatacattcatagggTttctctccagcgtgtgttcg	8	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9577913T>C	ENST00000301480.4	-	10	1923	c.1710A>G	c.(1708-1710)aaA>aaG	p.K570K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	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(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ATTCATAGGGTTTCTCTCCAG	0.398																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1708-1710)aaA>aaG		zinc finger protein 560							124	113	117					19																	9577913		2203	4300	6503	SO:0001819	synonymous_variant	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9577913T>C	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1710A>G	19.37:g.9577913T>C			Somatic					p.K570K	NM_152476.2	NP_689689.2	WXS	Illumina GAIIx	Phase_I	Q96MR9	ZN560_HUMAN			10	1923	-			570					Q495S9|Q495T1	Silent	SNP	ENST00000301480.4	37	c.1710A>G	CCDS12214.1																																																																																				0.398	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		35	63	0	0	0	1	0	35	63					C	9577913	T	C	9577913	2	2	48	1	0	0	0	0	0	0	0	1	18006	1722	60	4		4	ZNF560	19	9577913	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	215793	9577913	49551070	3951	8419										
ZNF560	147741	broad.mit.edu	37	chr19	9583919	9583919	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaccaagagatgacactgggTttaaagagctgaaatccttt	9	7	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9583919T>C	ENST00000301480.4	-	5	387	c.174A>G	c.(172-174)aaA>aaG	p.K58K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	58	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)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGACACTGGGTTTAAAGAGCT	0.453																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(172-174)aaA>aaG		zinc finger protein 560							165	165	165					19																	9583919		2203	4300	6503	SO:0001819	synonymous_variant	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9583919T>C	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.174A>G	19.37:g.9583919T>C			Somatic					p.K58K	NM_152476.2	NP_689689.2	WXS	Illumina GAIIx	Phase_I	Q96MR9	ZN560_HUMAN			5	387	-			58			KRAB 1.		Q495S9|Q495T1	Silent	SNP	ENST00000301480.4	37	c.174A>G	CCDS12214.1																																																																																				0.453	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		61	75	0	0	0	1	0	61	75					C	9583919	T	C	9583919	2	2	48	1	0	0	0	0	0	0	0	1	18006	1722	60	4		4	ZNF560	19	9583919	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	6006	9583919	49545064	3952	8420										
ZNF426	79088	broad.mit.edu	37	chr19	9639180	9639180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctaaaggaactggaacacGtgaaggctttcccacactcc	8	12	1	1	rs200716581		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9639180G>A	ENST00000535489.1	-	6	1877	c.1541C>T	c.(1540-1542)aCg>aTg	p.T514M	ZNF426_ENST00000593003.1_Missense_Mutation_p.T476M|ZNF426_ENST00000253115.2_Missense_Mutation_p.T514M			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ACTGGAACACGTGAAGGCTTT	0.428													G|||	1	0.000199681	8e-04	0	5008	,	,		18965	0		0	False		,,,				2504	0					ENST00000593003.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1426-1428)aCg>aTg		zinc finger protein 426		G	MET/THR	0,4406		0,0,2203	106	100	102		1541	-3	0	19		102	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ZNF426	NM_024106.1	81	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	514/555	9639180	3,13003	2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9639180G>A	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"Zinc fingers, C2H2-type", "-"	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.1541C>T	19.37:g.9639180G>A	ENSP00000439017:p.Thr514Met		Somatic				ZNF426_ENST00000535489.1_Missense_Mutation_p.T514M|ZNF426_ENST00000253115.2_Missense_Mutation_p.T514M	p.T476M			WXS	Illumina GAIIx	Phase_I	Q9BUY5	ZN426_HUMAN			6	1904	-			514					B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.1427C>T	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	G	3.806	-0.040722	0.07452	0.0	3.49E-4	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.07444	3.19;3.19	1.51	-3.01	0.05463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06416	0.0165	L	0.46885	1.475	0.22521	N	0.999029	B;B	0.32128	0.357;0.133	B;B	0.23018	0.043;0.026	T	0.08086	-1.0739	9	0.59425	D	0.04	.	6.1509	0.20310	0.2418:0.5253:0.2329:0.0	.	501;514	Q59EH4;Q9BUY5	.;ZN426_HUMAN	M	501;514;514	ENSP00000253115:T514M;ENSP00000439017:T514M	ENSP00000253115:T514M	T	-	2	0	ZNF426	9500180	.	.	0.002000	0.10522	0.058000	0.15608	.	.	-2.108000	0.00839	-1.599000	0.00816	ACG		0.428	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		20	34	0	0	0	1	0	20	34					A	9639180	G	A	9639180	3	1	48	1	0	0	0	0	1	0	0	0	17915	1145	40	1	127	1	ZNF426	19	9639180	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	55261	9639180	49489803	3953	8421										
ZNF121	7675	broad.mit.edu	37	chr19	9677366	9677366	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccttacattcgtagggtttTtctacagtatgcattttaac	6	8	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9677366T>G	ENST00000586602.1	-	6	839	c.423A>C	c.(421-423)gaA>gaC	p.E141D	ZNF121_ENST00000320451.6_Missense_Mutation_p.E141D			P58317	ZN121_HUMAN	zinc finger protein 121	141					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)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						CGTAGGGTTTTTCTACAGTAT	0.378																																						ENST00000586602.1																			0				breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						c.(421-423)gaA>gaC		zinc finger protein 121							83	77	79					19																	9677366		2203	4300	6503	SO:0001583	missense	7675				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9677366T>G	M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"Zinc fingers, C2H2-type"	12904	protein-coding gene	gene with protein product		194628	"zinc finger protein 121 (clone ZHC32)"	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.423A>C	19.37:g.9677366T>G	ENSP00000468643:p.Glu141Asp		Somatic				ZNF121_ENST00000320451.6_Missense_Mutation_p.E141D	p.E141D			WXS	Illumina GAIIx	Phase_I	P58317	ZN121_HUMAN			6	839	-			141						Missense_Mutation	SNP	ENST00000586602.1	37	c.423A>C		.	.	.	.	.	.	.	.	.	.	T	8.968	0.972265	0.18736	.	.	ENSG00000197961	ENST00000538300;ENST00000320451	T	0.26810	1.71	1.3	1.3	0.21679	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21550	0.0519	L	0.43152	1.355	0.09310	N	1	B	0.14805	0.011	B	0.24541	0.054	T	0.28808	-1.0032	9	0.72032	D	0.01	.	6.6906	0.23169	0.0:0.0:0.0:1.0	.	141	P58317	ZN121_HUMAN	D	141	ENSP00000326967:E141D	ENSP00000326967:E141D	E	-	3	2	ZNF121	9538366	0.000000	0.05858	0.052000	0.19188	0.123000	0.20343	-0.796000	0.04575	0.853000	0.35312	0.402000	0.26972	GAA		0.378	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1	NM_001008727		17	24	0	0	0	1	0	17	24					G	9677366	T	G	9677366	3	3	48	1	0	0	0	0	1	0	0	0	17734	1838	64	4	753	4	ZNF121	19	9677366	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	38186	9677366	49451617	3954	8422										
COL5A3	50509	broad.mit.edu	37	chr19	10079070	10079070	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggacactcacagggtctccCttgggaccagggggtccctg	14	13	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:10079070C>A	ENST00000264828.3	-	59	4390	c.4305G>T	c.(4303-4305)aaG>aaT	p.K1435N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1435	Collagen-like 6.|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)			CAGGGTCTCCCTTGGGACCAG	0.607																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(4303-4305)aaG>aaT		collagen, type V, alpha 3							102	116	111					19																	10079070		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10079070C>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.4305G>T	19.37:g.10079070C>A	ENSP00000264828:p.Lys1435Asn		Somatic					p.K1435N	NM_015719.3	NP_056534.2	WXS	Illumina GAIIx	Phase_I	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		59	4390	-			1435			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.4305G>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.954186	0.34471	.	.	ENSG00000080573	ENST00000264828	D	0.96427	-4.01	3.92	2.81	0.32909	.	0.214422	0.37715	N	0.001964	D	0.93785	0.8013	M	0.71581	2.175	0.42134	D	0.991484	P	0.42456	0.78	B	0.40444	0.329	D	0.92199	0.5766	10	0.56958	D	0.05	.	4.5625	0.12166	0.0:0.7366:0.0:0.2634	.	1435	P25940	CO5A3_HUMAN	N	1435	ENSP00000264828:K1435N	ENSP00000264828:K1435N	K	-	3	2	COL5A3	9940070	0.995000	0.38212	0.987000	0.45799	0.505000	0.33919	0.275000	0.18698	2.018000	0.59344	0.591000	0.81541	AAG		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		65	109	1	0	6.8682e-38	1	9.89239e-38	65	109					A	10079070	C	A	10079070	3	1	48	1	0	0	0	0	1	0	0	0	3700	680	24	5	968	5	COL5A3	19	10079070	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	401704	10079070	49049913	3955	8423										
ICAM4	3386	broad.mit.edu	37	chr19	10398049	10398049	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgtgacctgcgcaggaaaaAcacgctgggccacctccagg	12	14	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:10398049A>G	ENST00000380770.3	+	1	407	c.361A>G	c.(361-363)Aca>Gca	p.T121A	ICAM5_ENST00000221980.4_5'Flank|ICAM4_ENST00000393717.2_Missense_Mutation_p.T121A|ICAM4_ENST00000340992.4_Missense_Mutation_p.T121A|CTD-2369P2.8_ENST00000589379.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	121	Ig-like C2-type 1.				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)			CGCAGGAAAAACACGCTGGGC	0.672																																						ENST00000393717.2																			0				breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7						c.(361-363)Aca>Gca		intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)							16	17	16					19																	10398049		2202	4300	6502	SO:0001583	missense	3386				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding	g.chr19:10398049A>G	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.361A>G	19.37:g.10398049A>G	ENSP00000370147:p.Thr121Ala		Somatic				CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Missense_Mutation_p.T121A|ICAM4_ENST00000340992.4_Missense_Mutation_p.T121A	p.T121A	NM_022377.3	NP_071772.1	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)		1	370	+			121			Ig-like C2-type 1.		A0M8X2|Q14771|Q14772|Q16375|Q9BWR0	Missense_Mutation	SNP	ENST00000380770.3	37	c.361A>G	CCDS12232.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.530614	0.27387	.	.	ENSG00000105371	ENST00000340992;ENST00000380770;ENST00000393717	T;T;T	0.13307	2.6;2.6;2.6	4.27	2.15	0.27550	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.500583	0.17788	N	0.161977	T	0.25644	0.0624	M	0.72118	2.19	0.09310	N	1	D;D;D	0.63046	0.99;0.992;0.966	P;P;P	0.61328	0.819;0.887;0.848	T	0.08249	-1.0731	10	0.35671	T	0.21	-3.2503	4.4347	0.11545	0.6959:0.1988:0.1053:0.0	.	121;121;121	Q14773-2;Q14773;Q9BWR0	.;ICAM4_HUMAN;.	A	121	ENSP00000342114:T121A;ENSP00000370147:T121A;ENSP00000377320:T121A	ENSP00000342114:T121A	T	+	1	0	ICAM4	10259049	0.702000	0.27816	0.002000	0.10522	0.011000	0.07611	2.551000	0.45820	0.195000	0.20347	-0.441000	0.05720	ACA		0.672	ICAM4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451214.1	NM_001544		12	8	0	0	0	1	0	12	8					G	10398049	A	G	10398049	3	3	48	1	0	0	0	0	1	0	0	0	7491	43	2	4	363	4	ICAM4	19	10398049	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	318979	10398049	48730934	3956	8424										
ILF3	3609	broad.mit.edu	37	chr19	10793809	10793809	+	Intron	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttttccctgagaacgtaaaAcagcaggggccgatcctgac	11	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:10793809A>C	ENST00000590261.1	+	13	1548				ILF3_ENST00000407004.3_Missense_Mutation_p.K519N|ILF3_ENST00000420083.1_Intron|ILF3_ENST00000449870.1_Missense_Mutation_p.K519N|ILF3_ENST00000250241.8_Intron|ILF3_ENST00000589998.1_Intron|ILF3_ENST00000588657.1_Missense_Mutation_p.K519N|ILF3_ENST00000592763.1_Missense_Mutation_p.K519N|ILF3_ENST00000318511.3_Intron			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)			AGAACGTAAAACAGCAGGGGC	0.562																																						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.(1555-1557)aaA>aaC		interleukin enhancer binding factor 3, 90kDa							93	100	98					19																	10793809		2203	4300	6503	SO:0001627	intron_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.chr19:10793809A>C	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.1549-4A>C	19.37:g.10793809A>C			Somatic				ILF3_ENST00000588657.1_Missense_Mutation_p.K519N|ILF3_ENST00000318511.3_Intron|ILF3_ENST00000407004.3_Missense_Mutation_p.K519N|ILF3_ENST00000420083.1_Intron|ILF3_ENST00000590261.1_Intron|ILF3_ENST00000589998.1_Intron|ILF3_ENST00000592763.1_Missense_Mutation_p.K519N|ILF3_ENST00000250241.8_Intron	p.K519N	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)		14	1874	+			516					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.1557A>C	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.120405	0.56613	.	.	ENSG00000129351	ENST00000449870;ENST00000407004	T;T	0.15603	2.41;2.42	5.43	4.42	0.53409	.	.	.	.	.	T	0.21427	0.0516	L	0.43152	1.355	0.80722	D	1	B;P;P	0.51351	0.397;0.944;0.628	B;P;B	0.50659	0.073;0.647;0.236	T	0.00867	-1.1534	9	0.72032	D	0.01	.	8.482	0.33049	0.9111:0.0:0.0889:0.0	.	519;519;519	Q12906-4;G5E9M5;Q12906-6	.;.;.	N	519	ENSP00000404121:K519N;ENSP00000384660:K519N	ENSP00000384660:K519N	K	+	3	2	ILF3	10654809	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.375000	0.20518	2.061000	0.61500	0.528000	0.53228	AAA		0.562	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			63	108	0	0	0	1	0	63	108					C	10793809	A	C	10793809	1	2	48	0	1	0	0	0	0	0	0	0	7721	40	2	4		4	ILF3	19	10793809	Intron	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	395760	10793809	48335174	3957	8425										
ILF3	3609	broad.mit.edu	37	chr19	10794354	10794354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgggaggccccatgcacaacGaagtgcccccaccccccaac	9	19	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:10794354G>A	ENST00000590261.1	+	15	1894	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	ILF3_ENST00000407004.3_Missense_Mutation_p.E636K|ILF3_ENST00000420083.1_Missense_Mutation_p.E632K|ILF3_ENST00000449870.1_Missense_Mutation_p.E636K|ILF3_ENST00000250241.8_Missense_Mutation_p.E632K|ILF3_ENST00000589998.1_Missense_Mutation_p.E632K|ILF3_ENST00000588657.1_Missense_Mutation_p.E636K|ILF3_ENST00000592763.1_Missense_Mutation_p.E636K|ILF3_ENST00000318511.3_Missense_Mutation_p.E632K			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	632	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)			CATGCACAACGAAGTGCCCCC	0.622																																						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.(1906-1908)Gaa>Aaa		interleukin enhancer binding factor 3, 90kDa							35	43	40					19																	10794354		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.chr19:10794354G>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.1894G>A	19.37:g.10794354G>A	ENSP00000468156:p.Glu632Lys		Somatic				ILF3_ENST00000588657.1_Missense_Mutation_p.E636K|ILF3_ENST00000318511.3_Missense_Mutation_p.E632K|ILF3_ENST00000407004.3_Missense_Mutation_p.E636K|ILF3_ENST00000420083.1_Missense_Mutation_p.E632K|ILF3_ENST00000590261.1_Missense_Mutation_p.E632K|ILF3_ENST00000589998.1_Missense_Mutation_p.E632K|ILF3_ENST00000592763.1_Missense_Mutation_p.E636K|ILF3_ENST00000250241.8_Missense_Mutation_p.E632K	p.E636K	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)		16	2223	+			632			Interaction with PRMT1.|Poly-Pro.		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.1906G>A	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905933	0.92107	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.14766	2.48;2.48;2.49;2.49;2.49	5.84	3.69	0.42338	.	0.272553	0.33980	N	0.004372	T	0.09862	0.0242	L	0.27053	0.805	0.44129	D	0.996918	B;B;B;B;B;B	0.11235	0.004;0.004;0.002;0.001;0.001;0.001	B;B;B;B;B;B	0.09377	0.002;0.004;0.002;0.002;0.002;0.002	T	0.11767	-1.0574	10	0.40728	T	0.16	.	10.0224	0.42051	0.0723:0.0:0.7894:0.1383	.	636;636;632;636;632;632	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	K	632;636;632;632;636;632	ENSP00000404121:E636K;ENSP00000315205:E632K;ENSP00000405436:E632K;ENSP00000384660:E636K;ENSP00000250241:E632K	ENSP00000250241:E632K	E	+	1	0	ILF3	10655354	1.000000	0.71417	0.834000	0.33040	0.996000	0.88848	4.764000	0.62264	0.794000	0.33899	0.655000	0.94253	GAA		0.622	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			21	38	0	0	0	1	0	21	38					A	10794354	G	A	10794354	3	1	48	1	0	0	0	0	1	0	0	0	7721	1059	37	1	1964	1	ILF3	19	10794354	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	545	10794354	48334629	3958	8426										
SMARCA4	6597	broad.mit.edu	37	chr19	11114067	11114067	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaagtggctcagaagaagaGgaagaggtaagagtgcattt	15	3	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:11114067G>T	ENST00000429416.3	+	14	2276	c.1995G>T	c.(1993-1995)gaG>gaT	p.E665D	SMARCA4_ENST00000358026.2_Missense_Mutation_p.E665D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E665D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E665D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E665D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E665D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	665	Poly-Glu.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|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 transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAGAAGAAGAGGAAGAGGTAA	0.507			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(1993-1995)gaG>gaT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							144	134	138					19																	11114067		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11114067G>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1995G>T	19.37:g.11114067G>T	ENSP00000395654:p.Glu665Asp		Somatic				SMARCA4_ENST00000344626.4_Missense_Mutation_p.E665D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E665D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E665D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E665D	p.E665D	NM_001128849.1	NP_001122321.1	WXS	Illumina GAIIx	Phase_I	P51532	SMCA4_HUMAN			13	2279	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	665			Poly-Glu.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.1995G>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185844	0.38609	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92	4.24	4.24	0.50183	.	0.059925	0.64402	D	0.000004	T	0.28532	0.0706	N	0.20807	0.61	0.44424	D	0.997346	B;B;B;B;P;B;B	0.34780	0.089;0.02;0.02;0.044;0.468;0.022;0.022	B;B;B;B;B;B;B	0.32533	0.042;0.016;0.016;0.019;0.147;0.019;0.019	T	0.09185	-1.0686	10	0.27785	T	0.31	-44.6197	15.9393	0.79743	0.0:0.0:1.0:0.0	.	665;665;665;665;665;665;665	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	D	665;665;729;665;665;665;665;665	ENSP00000395654:E665D;ENSP00000350720:E665D;ENSP00000343896:E665D;ENSP00000445036:E665D;ENSP00000392837:E665D;ENSP00000397783:E665D;ENSP00000414727:E665D	ENSP00000343896:E665D	E	+	3	2	SMARCA4	10975067	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	1.669000	0.37492	2.355000	0.79922	0.467000	0.42956	GAG		0.507	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		19	98	1	0	0.012319	1	0.012659	19	98					T	11114067	G	T	11114067	3	4	48	1	0	0	0	0	1	0	0	0	14785	991	35	5	2041	5	SMARCA4	19	11114067	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	319713	11114067	48014916	3959	8427										
LPPR2	64748	broad.mit.edu	37	chr19	11473304	11473304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtccgcgtggccgagtaccGaaaccactggtcggacgtgc	15	13	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:11473304G>A	ENST00000251473.5	+	7	1155	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.R235Q	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					GCCGAGTACCGAAACCACTGG	0.652																																						ENST00000251473.5																			0											c.(778-780)cGa>cAa									83	67	72					19																	11473304		2203	4300	6503	SO:0001583	missense	0							g.chr19:11473304G>A																												ENST00000251473.5:c.779G>A	19.37:g.11473304G>A	ENSP00000251473:p.Arg260Gln		Somatic				DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.R235Q	p.R260Q	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2	WXS	Illumina GAIIx	Phase_I					7	1155	+									Missense_Mutation	SNP	ENST00000251473.5	37	c.779G>A	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	G	37	6.074982	0.97262	.	.	ENSG00000105520	ENST00000251473	T	0.75477	-0.94	5.45	5.45	0.79879	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85487	0.5708	M	0.67625	2.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.86520	0.1815	10	0.72032	D	0.01	-32.9386	18.0605	0.89375	0.0:0.0:1.0:0.0	.	235;260	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	Q	260	ENSP00000251473:R260Q	ENSP00000251473:R260Q	R	+	2	0	AC024575.1	11334304	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.966000	0.93397	2.570000	0.86706	0.561000	0.74099	CGA		0.652	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			29	41	0	0	0	1	0	29	41					A	11473304	G	A	11473304	3	1	48	1	0	0	0	0	1	0	0	0	8934	1058	37	1	797	1	LPPR2	19	11473304	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	359237	11473304	47655679	3960	8428										
CCDC151	115948	broad.mit.edu	37	chr19	11545832	11545832	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccgccctgcacagaggagaTgtcatgatggggttggggct	17	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:11545832T>C	ENST00000356392.4	-	1	93	c.6A>G	c.(4-6)acA>acG	p.T2T	CCDC151_ENST00000545100.1_Intron|CCDC151_ENST00000591179.1_Silent_p.T2T|PRKCSH_ENST00000589838.1_5'Flank|PRKCSH_ENST00000591462.1_5'Flank|PRKCSH_ENST00000412601.1_5'Flank|CCDC151_ENST00000586836.1_Intron|PRKCSH_ENST00000592741.1_5'Flank|PRKCSH_ENST00000252455.2_5'Flank|PRKCSH_ENST00000587327.1_5'Flank	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	2										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						ACAGAGGAGATGTCATGATGG	0.642											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356392.4																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						c.(4-6)acA>acG		coiled-coil domain containing 151							34	38	36					19																	11545832		2009	4161	6170	SO:0001819	synonymous_variant	115948							g.chr19:11545832T>C		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.6A>G	19.37:g.11545832T>C			Somatic	OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	673	CCDC151_ENST00000591179.1_Silent_p.T2T|CCDC151_ENST00000545100.1_Intron|CCDC151_ENST00000586836.1_Intron	p.T2T	NM_145045.4	NP_659482.3	WXS	Illumina GAIIx	Phase_I	A5D8V7	CC151_HUMAN			1	93	-			2					B4DXT0|Q96CG5	Silent	SNP	ENST00000356392.4	37	c.6A>G	CCDS42501.1																																																																																				0.642	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		5	73	0	0	0	1	0	5	73					C	11545832	T	C	11545832	2	2	48	1	0	0	0	0	0	0	0	1	2788	1451	51	4		4	CCDC151	19	11545832	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	72528	11545832	47583151	3961	8429										
ZNF439	90594	broad.mit.edu	37	chr19	11978295	11978295	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtaactcatcttctaatatGaacatcagaggtgacactgg	9	8	4	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:11978295G>T	ENST00000304030.2	+	3	611	c.411G>T	c.(409-411)atG>atT	p.M137I	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Start_Codon_SNP_p.M1I	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CTTCTAATATGAACATCAGAG	0.423																																						ENST00000304030.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						c.(409-411)atG>atT		zinc finger protein 439							205	193	197					19																	11978295		2203	4300	6503	SO:0001583	missense	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11978295G>T	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"Zinc fingers, C2H2-type", "-"	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.411G>T	19.37:g.11978295G>T	ENSP00000305077:p.Met137Ile		Somatic				ZNF439_ENST00000455282.1_Start_Codon_SNP_p.M1I|ZNF439_ENST00000592534.1_Intron	p.M137I	NM_152262.2	NP_689475.1	WXS	Illumina GAIIx	Phase_I	Q8NDP4	ZN439_HUMAN			3	611	+			137					Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	c.411G>T	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	6.079	0.382835	0.11524	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.06849	3.25;3.33	0.457	-0.786	0.10946	.	.	.	.	.	T	0.03915	0.0110	N	0.12831	0.26	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46652	-0.9176	9	0.20046	T	0.44	.	5.7863	0.18334	0.2442:0.0:0.7558:0.0	.	137	Q8NDP4	ZN439_HUMAN	I	1;137	ENSP00000395632:M1I;ENSP00000305077:M137I	ENSP00000305077:M137I	M	+	3	0	ZNF439	11839295	0.000000	0.05858	0.003000	0.11579	0.198000	0.23893	-1.467000	0.02352	-0.378000	0.07918	0.194000	0.17425	ATG		0.423	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			68	134	1	0	1.08241e-25	1	1.52617e-25	68	134					T	11978295	G	T	11978295	3	4	48	1	0	0	0	0	1	0	0	0	17926	1290	45	2	421	2	ZNF439	19	11978295	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	432463	11978295	47150688	3962	8430										
ZNF700	90592	broad.mit.edu	37	chr19	12059468	12059468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattttccattcaagcattcGaagacacatggtaatgcaca	6	9	1	1	rs375165208		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12059468G>A	ENST00000254321.5	+	4	772	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000482090.1_Missense_Mutation_p.R192Q	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	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)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCAAGCATTCGAAGACACATG	0.378																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(574-576)cGa>cAa		zinc finger protein 700		G	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	89	94	92		629	-0.6	0	19		92	0,8600		0,0,4300	no	missense	ZNF700	NM_144566.1	43	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	210/743	12059468	3,13003	2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059468G>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.629G>A	19.37:g.12059468G>A	ENSP00000254321:p.Arg210Gln		Somatic				CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Missense_Mutation_p.R210Q|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron	p.R192Q			WXS	Illumina GAIIx	Phase_I	Q9H0M5	ZN700_HUMAN			3	993	+			210					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.575G>A	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	2.494	-0.316794	0.05386	6.81E-4	0.0	ENSG00000196757	ENST00000254321	T	0.07444	3.19	0.554	-0.601	0.11638	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.25286	0.73	0.09310	N	1	B	0.21905	0.062	B	0.17722	0.019	T	0.47235	-0.9133	9	0.10902	T	0.67	.	3.7097	0.08414	0.6262:0.0:0.3738:0.0	.	210	Q9H0M5	ZN700_HUMAN	Q	210	ENSP00000254321:R210Q	ENSP00000254321:R210Q	R	+	2	0	ZNF700	11920468	0.000000	0.05858	0.031000	0.17742	0.346000	0.29079	-0.806000	0.04525	-0.289000	0.09038	0.305000	0.20034	CGA		0.378	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		32	67	0	0	0	1	0	32	67					A	12059468	G	A	12059468	3	1	48	1	0	0	0	0	1	0	0	0	18119	1058	37	1	643	1	ZNF700	19	12059468	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	81173	12059468	47069515	3963	8431										
ZNF433	163059	broad.mit.edu	37	chr19	12127029	12127029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttctctccagtgtgagttCgtttgtggataagatacaaa	10	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12127029C>T	ENST00000344980.6	-	4	823	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.R183Q|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						AGTGTGAGTTCGTTTGTGGAT	0.403																																						ENST00000419886.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						c.(547-549)cGa>cAa		zinc finger protein 433							73	76	75					19																	12127029		2203	4300	6503	SO:0001583	missense	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12127029C>T	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.653G>A	19.37:g.12127029C>T	ENSP00000339767:p.Arg218Gln		Somatic				CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.R218Q|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA	p.R183Q			WXS	Illumina GAIIx	Phase_I	Q8N7K0	ZN433_HUMAN			5	839	-			218					Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	37	c.548G>A	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712221	0.48517	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.02369	4.32;4.32	1.19	0.112	0.14623	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	L	0.43646	1.37	0.19300	N	0.999977	D	0.69078	0.997	P	0.54856	0.762	T	0.38564	-0.9655	9	0.62326	D	0.03	.	2.5366	0.04716	0.0:0.4462:0.3234:0.2304	.	218	Q8N7K0	ZN433_HUMAN	Q	183;218	ENSP00000393416:R183Q;ENSP00000339767:R218Q	ENSP00000339767:R218Q	R	-	2	0	ZNF433	11988029	0.000000	0.05858	0.007000	0.13788	0.207000	0.24258	-0.673000	0.05239	0.066000	0.16515	0.306000	0.20318	CGA		0.403	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		16	41	0	0	0	1	0	16	41					T	12127029	C	T	12127029	3	4	48	1	0	0	0	0	1	0	0	0	17922	884	31	1	1372	1	ZNF433	19	12127029	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	67561	12127029	47001954	3964	8432										
ZNF20	7568	broad.mit.edu	37	chr19	12243602	12243602	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgagtcctttcatgatatcGaatggaactggaacaagtga	11	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12243602G>A	ENST00000334213.5	-	4	1623	c.1399C>T	c.(1399-1401)Cga>Tga	p.R467*	ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'Flank|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|lung(6)	8						TCATGATATCGAATGGAACTG	0.403																																						ENST00000334213.5																			0				endometrium(1)|kidney(1)|lung(6)	8						c.(1399-1401)Cga>Tga		zinc finger protein 20							134	142	139					19																	12243602		2201	4300	6501	SO:0001587	stop_gained	7568				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12243602G>A	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"Zinc fingers, C2H2-type", "-"	12992	protein-coding gene	gene with protein product		194557	"zinc finger protein 20 (KOX 13)"				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.1399C>T	19.37:g.12243602G>A	ENSP00000335437:p.Arg467*		Somatic				ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	p.R467*	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	WXS	Illumina GAIIx	Phase_I	P17024	ZNF20_HUMAN			4	1623	-			467					Q8N457|Q9UG41	Nonsense_Mutation	SNP	ENST00000334213.5	37	c.1399C>T	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	G	37	6.368834	0.97511	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	.	.	.	1.09	-2.17	0.07059	.	.	.	.	.	.	.	.	.	.	.	0.48341	D	0.999634	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	3.4432	0.07472	0.0:0.2385:0.2861:0.4754	.	.	.	.	X	467	.	ENSP00000292241:R467X	R	-	1	2	ZNF20	12104602	0.000000	0.05858	0.000000	0.03702	0.973000	0.67179	-2.278000	0.01159	-0.584000	0.05913	0.313000	0.20887	CGA		0.403	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		23	73	0	0	0	1	0	23	73					A	12243602	G	A	12243602	4	1	48	1	0	0	0	0	0	1	0	0	17776	1066	37	1	203	1	ZNF20	19	12243602	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	116573	12243602	46885381	3965	8433										
ZNF20	7568	broad.mit.edu	37	chr19	12243874	12243874	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagttgtgaagcacatctaAagcctttcccacactgctta	7	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12243874A>C	ENST00000334213.5	-	4	1351	c.1127T>G	c.(1126-1128)tTt>tGt	p.F376C	ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'Flank|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|lung(6)	8						AGCACATCTAAAGCCTTTCCC	0.418																																						ENST00000334213.5																			0				endometrium(1)|kidney(1)|lung(6)	8						c.(1126-1128)tTt>tGt		zinc finger protein 20							60	62	61					19																	12243874		2192	4296	6488	SO:0001583	missense	7568				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12243874A>C	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"Zinc fingers, C2H2-type", "-"	12992	protein-coding gene	gene with protein product		194557	"zinc finger protein 20 (KOX 13)"				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.1127T>G	19.37:g.12243874A>C	ENSP00000335437:p.Phe376Cys		Somatic				ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	p.F376C	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	WXS	Illumina GAIIx	Phase_I	P17024	ZNF20_HUMAN			4	1351	-			376					Q8N457|Q9UG41	Missense_Mutation	SNP	ENST00000334213.5	37	c.1127T>G	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.197416	0.38806	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	T	0.41758	0.99	0.94	0.94	0.19513	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59569	0.2203	M	0.79614	2.46	0.22446	N	0.999097	D	0.89917	1.0	D	0.97110	1.0	T	0.42916	-0.9423	9	0.87932	D	0	.	6.0337	0.19694	1.0:0.0:0.0:0.0	.	376	P17024	ZNF20_HUMAN	C	376	ENSP00000335437:F376C	ENSP00000292241:F376C	F	-	2	0	ZNF20	12104874	0.997000	0.39634	0.002000	0.10522	0.036000	0.12997	5.236000	0.65354	0.654000	0.30846	0.260000	0.18958	TTT		0.418	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		11	48	0	0	0	1	0	11	48					C	12243874	A	C	12243874	3	2	48	1	0	0	0	0	1	0	0	0	17776	14	1	4	475	4	ZNF20	19	12243874	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	272	12243874	46885109	3966	8434										
ZNF20	7568	broad.mit.edu	37	chr19	12244261	12244261	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattcactcctgtgtgagttCtttcatgtactggaagggta	10	8	3	1	rs371304651		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12244261C>A	ENST00000334213.5	-	4	964	c.740G>T	c.(739-741)aGa>aTa	p.R247I	ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'Flank|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	247					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|lung(6)	8						TGTGTGAGTTCTTTCATGTAC	0.403																																						ENST00000334213.5																			0				endometrium(1)|kidney(1)|lung(6)	8						c.(739-741)aGa>aTa		zinc finger protein 20							87	90	89					19																	12244261		2145	4276	6421	SO:0001583	missense	7568				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12244261C>A	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"Zinc fingers, C2H2-type", "-"	12992	protein-coding gene	gene with protein product		194557	"zinc finger protein 20 (KOX 13)"				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.740G>T	19.37:g.12244261C>A	ENSP00000335437:p.Arg247Ile		Somatic				ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	p.R247I	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	WXS	Illumina GAIIx	Phase_I	P17024	ZNF20_HUMAN			4	964	-			247					Q8N457|Q9UG41	Missense_Mutation	SNP	ENST00000334213.5	37	c.740G>T	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107420	0.37145	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	T	0.18338	2.22	0.753	0.753	0.18404	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34106	0.0886	M	0.71206	2.165	0.53688	D	0.999973	D	0.76494	0.999	D	0.85130	0.997	T	0.08722	-1.0708	9	0.49607	T	0.09	.	7.2957	0.26391	0.0:1.0:0.0:0.0	.	247	P17024	ZNF20_HUMAN	I	247	ENSP00000335437:R247I	ENSP00000292241:R247I	R	-	2	0	ZNF20	12105261	0.000000	0.05858	0.009000	0.14445	0.185000	0.23345	-0.839000	0.04368	0.668000	0.31126	0.313000	0.20887	AGA		0.403	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		29	59	1	0	9.39395e-14	1	1.21013e-13	29	59					A	12244261	C	A	12244261	3	1	48	1	0	0	0	0	1	0	0	0	17776	913	32	2	862	2	ZNF20	19	12244261	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	387	12244261	46884722	3967	8435										
ZNF625	90589	broad.mit.edu	37	chr19	12256655	12256655	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctttcccacaaaagttacaTttgtagggtccatctccact	6	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12256655T>G	ENST00000355738.1	-	4	727	c.378A>C	c.(376-378)aaA>aaC	p.K126N	CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000439556.2_Missense_Mutation_p.K192N|ZNF625_ENST00000542938.1_Missense_Mutation_p.K126N|ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	126					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)|large_intestine(6)|lung(4)|skin(2)	14						AAAAGTTACATTTGTAGGGTC	0.413																																						ENST00000355738.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						c.(376-378)aaA>aaC		zinc finger protein 625							132	126	128					19																	12256655		2203	4300	6503	SO:0001583	missense	90589				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12256655T>G	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"Zinc fingers, C2H2-type", "-"	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.378A>C	19.37:g.12256655T>G	ENSP00000347977:p.Lys126Asn		Somatic				ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Missense_Mutation_p.K126N|ZNF625_ENST00000439556.2_Missense_Mutation_p.K192N	p.K126N			WXS	Illumina GAIIx	Phase_I	Q96I27	ZN625_HUMAN			4	727	-			126					A4FU45|I3L0E9	Missense_Mutation	SNP	ENST00000355738.1	37	c.378A>C		.	.	.	.	.	.	.	.	.	.	T	16.02	3.003339	0.54254	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.08546	3.08;3.08;3.08	1.13	1.13	0.20643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22781	0.0550	M	0.77103	2.36	0.09310	N	1	P;D	0.76494	0.81;0.999	B;D	0.69824	0.246;0.966	T	0.05750	-1.0866	9	0.72032	D	0.01	.	4.4398	0.11568	0.0:0.0:0.0:1.0	.	126;126	A8K8U0;Q96I27	.;ZN625_HUMAN	N	126;126;192	ENSP00000438436:K126N;ENSP00000347977:K126N;ENSP00000394380:K192N	ENSP00000347977:K126N	K	-	3	2	AC022415.5	12117655	0.021000	0.18746	0.022000	0.16811	0.757000	0.42996	-0.596000	0.05720	0.774000	0.33427	0.260000	0.18958	AAA		0.413	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		53	78	0	0	0	1	0	53	78					G	12256655	T	G	12256655	3	3	48	1	0	0	0	0	1	0	0	0	18064	1490	52	4	546	4	ZNF625	19	12256655	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	12394	12256655	46872328	3968	8436										
ZNF136	7695	broad.mit.edu	37	chr19	12298485	12298485	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgtggtaaagctttcgtttCttcaacatcaattcgaatac	6	8	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12298485C>A	ENST00000343979.4	+	4	1432	c.1292C>A	c.(1291-1293)tCt>tAt	p.S431Y	ZNF136_ENST00000398616.2_Missense_Mutation_p.S365Y	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	431					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)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						GCTTTCGTTTCTTCAACATCA	0.388																																						ENST00000343979.4																			0				NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1291-1293)tCt>tAt		zinc finger protein 136							61	57	58					19																	12298485		2203	4300	6503	SO:0001583	missense	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12298485C>A	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"Zinc fingers, C2H2-type", "-"	12920	protein-coding gene	gene with protein product		604078	"zinc finger protein 136 (clone pHZ-20)"			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.1292C>A	19.37:g.12298485C>A	ENSP00000344162:p.Ser431Tyr		Somatic				ZNF136_ENST00000398616.2_Missense_Mutation_p.S365Y	p.S431Y	NM_003437.3	NP_003428.1	WXS	Illumina GAIIx	Phase_I	P52737	ZN136_HUMAN			4	1432	+			431						Missense_Mutation	SNP	ENST00000343979.4	37	c.1292C>A	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	C	0.243	-1.012341	0.02095	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.18960	2.18;2.18	1.25	-1.45	0.08828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24198	0.0586	L	0.38953	1.18	0.09310	N	1	D	0.65815	0.995	P	0.60789	0.879	T	0.13469	-1.0508	8	.	.	.	.	3.4327	0.07434	0.5466:0.284:0.0:0.1694	.	431	P52737	ZN136_HUMAN	Y	431;365	ENSP00000344162:S431Y;ENSP00000381617:S365Y	.	S	+	2	0	ZNF136	12159485	0.000000	0.05858	0.001000	0.08648	0.824000	0.46624	-7.147000	0.00043	-0.375000	0.07955	0.655000	0.94253	TCT		0.388	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		4	32	1	0	0.150653	1	0.151842	4	32					A	12298485	C	A	12298485	3	1	48	1	0	0	0	0	1	0	0	0	17741	913	32	2	1306	2	ZNF136	19	12298485	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	41830	12298485	46830498	3969	8437										
ZNF443	10224	broad.mit.edu	37	chr19	12541287	12541287	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtgagccaagagaatgcttTcccacattccttacattcat	6	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12541287T>G	ENST00000301547.5	-	4	1896	c.1699A>C	c.(1699-1701)Aaa>Caa	p.K567Q	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	567					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						GAGAATGCTTTCCCACATTCC	0.393																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(1699-1701)Aaa>Caa		zinc finger protein 443							94	95	94					19																	12541287		2203	4297	6500	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.chr19:12541287T>G	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"Zinc fingers, C2H2-type", "-"	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1699A>C	19.37:g.12541287T>G	ENSP00000301547:p.Lys567Gln		Somatic				CTD-3105H18.16_ENST00000595562.1_Intron	p.K567Q	NM_005815.4	NP_005806.2	WXS	Illumina GAIIx	Phase_I	Q9Y2A4	ZN443_HUMAN			4	1896	-			567						Missense_Mutation	SNP	ENST00000301547.5	37	c.1699A>C	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.667302	0.47677	.	.	ENSG00000180855	ENST00000301547	T	0.27256	1.68	1.37	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37999	0.1024	M	0.89968	3.075	0.29029	N	0.885798	P	0.49862	0.929	P	0.44772	0.46	T	0.43523	-0.9386	9	0.72032	D	0.01	.	8.1902	0.31363	0.0:0.0:0.0:1.0	.	567	Q9Y2A4	ZN443_HUMAN	Q	567	ENSP00000301547:K567Q	ENSP00000301547:K567Q	K	-	1	0	ZNF443	12402287	0.417000	0.25432	0.021000	0.16686	0.087000	0.18053	3.561000	0.53770	0.893000	0.36288	0.378000	0.23410	AAA		0.393	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		15	65	0	0	0	1	0	15	65					G	12541287	T	G	12541287	3	3	48	1	0	0	0	0	1	0	0	0	17931	1792	62	4	320	4	ZNF443	19	12541287	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	242802	12541287	46587696	3970	8438										
ZNF443	10224	broad.mit.edu	37	chr19	12542031	12542031	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgaagggaaccggaaacacTgaaggctttcccacattgtt	10	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12542031T>G	ENST00000301547.5	-	4	1152	c.955A>C	c.(955-957)Agt>Cgt	p.S319R	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	319					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						CCGGAAACACTGAAGGCTTTC	0.438																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(955-957)Agt>Cgt		zinc finger protein 443							145	139	141					19																	12542031		2203	4299	6502	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.chr19:12542031T>G	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"Zinc fingers, C2H2-type", "-"	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.955A>C	19.37:g.12542031T>G	ENSP00000301547:p.Ser319Arg		Somatic				CTD-3105H18.16_ENST00000595562.1_Intron	p.S319R	NM_005815.4	NP_005806.2	WXS	Illumina GAIIx	Phase_I	Q9Y2A4	ZN443_HUMAN			4	1152	-			319						Missense_Mutation	SNP	ENST00000301547.5	37	c.955A>C	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	T	6.888	0.533386	0.13188	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.07216	3.21	1.1	0.00677	0.14068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07818	0.0196	N	0.05177	-0.1	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.28713	-1.0035	9	0.25106	T	0.35	.	1.4554	0.02384	0.3166:0.2311:0.0:0.4523	.	319	Q9Y2A4	ZN443_HUMAN	R	319	ENSP00000301547:S319R	ENSP00000301547:S319R	S	-	1	0	ZNF443	12403031	0.000000	0.05858	0.001000	0.08648	0.127000	0.20565	-1.116000	0.03286	-0.044000	0.13491	0.378000	0.23410	AGT		0.438	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		65	108	0	0	0	1	0	65	108					G	12542031	T	G	12542031	3	3	48	1	0	0	0	0	1	0	0	0	17931	1580	55	4	1064	4	ZNF443	19	12542031	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	744	12542031	46586952	3971	8439										
ZNF709	163051	broad.mit.edu	37	chr19	12575681	12575681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgcattatcatatgtcttCgatagcttggaagagaaatg	10	5	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12575681C>T	ENST00000397732.3	-	4	1226	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.R352Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CATATGTCTTCGATAGCTTGG	0.368																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1054-1056)cGa>cAa		zinc finger protein 709							99	106	104					19																	12575681		2202	4300	6502	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575681C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1055G>A	19.37:g.12575681C>T	ENSP00000380840:p.Arg352Gln		Somatic				ZNF709_ENST00000428311.1_Missense_Mutation_p.R352Q|CTD-3105H18.18_ENST00000598753.1_Intron	p.R352Q	NM_152601.3	NP_689814.1	WXS	Illumina GAIIx	Phase_I	Q8N972	ZN709_HUMAN			4	1226	-			352					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1055G>A	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	5.648	0.304150	0.10678	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.07444	3.19;3.19	2.43	-2.66	0.06077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.688566	0.11110	N	0.598717	T	0.04137	0.0115	L	0.27053	0.805	0.09310	N	1	B	0.30281	0.275	B	0.17722	0.019	T	0.46091	-0.9216	10	0.12103	T	0.63	.	7.7545	0.28917	0.0:0.503:0.0:0.497	.	352	Q8N972	ZN709_HUMAN	Q	352	ENSP00000380840:R352Q;ENSP00000404127:R352Q	ENSP00000404127:R352Q	R	-	2	0	ZNF709;CTD-2192J16.17	12436681	0.000000	0.05858	0.000000	0.03702	0.986000	0.74619	-3.625000	0.00411	-0.564000	0.06070	0.467000	0.42956	CGA		0.368	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		38	46	0	0	0	1	0	38	46					T	12575681	C	T	12575681	3	4	48	1	0	0	0	0	1	0	0	0	18128	884	31	1	874	1	ZNF709	19	12575681	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	33650	12575681	46553302	3972	8440										
ZNF709	163051	broad.mit.edu	37	chr19	12576017	12576017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtgagttctttcatgatttCgaaaagaactgggatgactg	11	5	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12576017C>T	ENST00000397732.3	-	4	890	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.R240Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						TTCATGATTTCGAAAAGAACT	0.383																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(718-720)cGa>cAa		zinc finger protein 709							86	89	88					19																	12576017		2189	4295	6484	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12576017C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.719G>A	19.37:g.12576017C>T	ENSP00000380840:p.Arg240Gln		Somatic				ZNF709_ENST00000428311.1_Missense_Mutation_p.R240Q|CTD-3105H18.18_ENST00000598753.1_Intron	p.R240Q	NM_152601.3	NP_689814.1	WXS	Illumina GAIIx	Phase_I	Q8N972	ZN709_HUMAN			4	890	-			240					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.719G>A	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	9.322	1.058307	0.19987	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.07444	3.19;3.19	2.8	-3.26	0.05064	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.29444	N	0.012129	T	0.02807	0.0084	N	0.10972	0.075	0.09310	N	1	B	0.27140	0.169	B	0.11329	0.006	T	0.46414	-0.9193	10	0.09590	T	0.72	.	8.7466	0.34589	0.0:0.5092:0.0:0.4908	.	240	Q8N972	ZN709_HUMAN	Q	240	ENSP00000380840:R240Q;ENSP00000404127:R240Q	ENSP00000404127:R240Q	R	-	2	0	ZNF709;CTD-2192J16.17	12437017	0.001000	0.12720	0.000000	0.03702	0.221000	0.24807	0.224000	0.17738	-0.644000	0.05465	-0.373000	0.07131	CGA		0.383	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		23	39	0	0	0	1	0	23	39					T	12576017	C	T	12576017	3	4	48	1	0	0	0	0	1	0	0	0	18128	884	31	1	1210	1	ZNF709	19	12576017	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	336	12576017	46552966	3973	8441										
ZNF564	163050	broad.mit.edu	37	chr19	12638272	12638272	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttctctccagtgtgagttCtttcatgtatctgaaataaa	7	7	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12638272C>A	ENST00000339282.7	-	4	846	c.650G>T	c.(649-651)aGa>aTa	p.R217I	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	217					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.R217I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AGTGTGAGTTCTTTCATGTAT	0.403																																						ENST00000339282.7																			1	Substitution - Missense(1)	p.R217I(1)	large_intestine(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(649-651)aGa>aTa		zinc finger protein 564							83	92	89					19																	12638272		2198	4297	6495	SO:0001583	missense	163050							g.chr19:12638272C>A	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"Zinc fingers, C2H2-type", "-"	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.650G>T	19.37:g.12638272C>A	ENSP00000340004:p.Arg217Ile		Somatic				ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	p.R217I	NM_144976.3	NP_659413.1	WXS	Illumina GAIIx	Phase_I					4	846	-								B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.650G>T	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845086	0.51164	.	.	ENSG00000249709	ENST00000339282	T	0.24908	1.83	1.57	-3.14	0.05250	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39784	0.1091	M	0.85630	2.765	0.09310	N	0.999996	D	0.67145	0.996	P	0.60286	0.872	T	0.26503	-1.0101	9	0.51188	T	0.08	.	0.7735	0.01028	0.1622:0.1849:0.31:0.343	.	217	Q8TBZ8	ZN564_HUMAN	I	217	ENSP00000340004:R217I	ENSP00000340004:R217I	R	-	2	0	ZNF564	12499272	0.000000	0.05858	0.000000	0.03702	0.839000	0.47603	-0.297000	0.08276	-1.189000	0.02702	0.549000	0.68633	AGA		0.403	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		47	84	1	0	1.8453e-21	1	2.54941e-21	47	84					A	12638272	C	A	12638272	3	1	48	1	0	0	0	0	1	0	0	0	18010	913	32	2	1015	2	ZNF564	19	12638272	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	62255	12638272	46490711	3974	8442										
ZNF791	163049	broad.mit.edu	37	chr19	12739611	12739611	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtgcaaaaaccttcatttCtcttgagaactttcgaagac	6	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12739611C>A	ENST00000343325.4	+	4	1430	c.1268C>A	c.(1267-1269)tCt>tAt	p.S423Y	AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Missense_Mutation_p.S391Y|ZNF791_ENST00000540038.1_Missense_Mutation_p.S314Y|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	423					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(5)|lung(6)|ovary(2)|prostate(3)	19						ACCTTCATTTCTCTTGAGAAC	0.403																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(1267-1269)tCt>tAt		zinc finger protein 791							108	111	110					19																	12739611		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12739611C>A	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1268C>A	19.37:g.12739611C>A	ENSP00000342974:p.Ser423Tyr		Somatic				ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.S314Y|ZNF791_ENST00000458122.3_Missense_Mutation_p.S391Y	p.S423Y	NM_153358.2	NP_699189.2	WXS	Illumina GAIIx	Phase_I	Q3KP31	ZN791_HUMAN			4	1430	+			423					B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.1268C>A	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.414866	0.00191	.	.	ENSG00000173875	ENST00000343325;ENST00000458122;ENST00000540038	T;T;T	0.36878	1.23;1.23;1.23	1.83	0.597	0.17504	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13841	0.0335	N	0.04746	-0.17	0.09310	N	1	B	0.25007	0.116	B	0.28638	0.092	T	0.33675	-0.9859	9	0.02654	T	1	.	5.8985	0.18953	0.5525:0.4474:0.0:0.0	.	423	Q3KP31	ZN791_HUMAN	Y	423;391;314	ENSP00000342974:S423Y;ENSP00000441761:S391Y;ENSP00000441038:S314Y	ENSP00000342974:S423Y	S	+	2	0	ZNF791	12600611	0.000000	0.05858	0.007000	0.13788	0.795000	0.44927	-1.842000	0.01681	0.053000	0.16036	0.491000	0.48974	TCT		0.403	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		43	76	1	0	7.05121e-23	1	9.83114e-23	43	76					A	12739611	C	A	12739611	3	1	48	1	0	0	0	0	1	0	0	0	18178	913	32	2	1282	2	ZNF791	19	12739611	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	101339	12739611	46389372	3975	8443										
TNPO2	30000	broad.mit.edu	37	chr19	12825950	12825950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcacacattcttccgcacctCggggtcatcatccacagcca	7	17	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12825950C>T	ENST00000592287.1	-	8	790	c.682G>A	c.(682-684)Gag>Aag	p.E228K	TNPO2_ENST00000425528.1_Missense_Mutation_p.E228K|TNPO2_ENST00000450764.2_Missense_Mutation_p.E228K|TNPO2_ENST00000356861.5_Missense_Mutation_p.E228K|TNPO2_ENST00000588216.1_Missense_Mutation_p.E228K|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000441499.1_Missense_Mutation_p.E228K	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	228					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCCGCACCTCGGGGTCATCA	0.617																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(682-684)Gag>Aag		transportin 2							60	64	63					19																	12825950		2143	4249	6392	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12825950C>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.682G>A	19.37:g.12825950C>T	ENSP00000468434:p.Glu228Lys		Somatic				TNPO2_ENST00000592287.1_Missense_Mutation_p.E228K|TNPO2_ENST00000450764.2_Missense_Mutation_p.E228K|TNPO2_ENST00000441499.1_Missense_Mutation_p.E228K|TNPO2_ENST00000588216.1_Missense_Mutation_p.E228K|TNPO2_ENST00000356861.5_Missense_Mutation_p.E228K|TNPO2_ENST00000589956.1_Intron	p.E228K			WXS	Illumina GAIIx	Phase_I	O14787	TNPO2_HUMAN			9	1039	-			228					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.682G>A	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.924029	0.73213	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	M	0.90542	3.125	0.80722	D	1	P;B	0.43287	0.802;0.433	B;B	0.28849	0.095;0.07	T	0.77172	-0.2685	10	0.66056	D	0.02	-22.2304	18.4471	0.90688	0.0:1.0:0.0:0.0	.	392;228	Q4LE60;O14787	.;TNPO2_HUMAN	K	392;228;228;228;228;228;228	ENSP00000407182:E228K;ENSP00000389648:E228K;ENSP00000397379:E228K;ENSP00000349321:E228K	ENSP00000349321:E228K	E	-	1	0	TNPO2	12686950	1.000000	0.71417	0.969000	0.41365	0.691000	0.40173	7.266000	0.78452	2.655000	0.90218	0.555000	0.69702	GAG		0.617	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		24	37	0	0	0	1	0	24	37					T	12825950	C	T	12825950	3	4	48	1	0	0	0	0	1	0	0	0	16351	893	31	1	2079	1	TNPO2	19	12825950	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	86339	12825950	46303033	3976	8444										
MAST1	22983	broad.mit.edu	37	chr19	12958187	12958187	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacttcctctccaaacacttCgggagcaccgagagcatcac	7	16	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12958187C>T	ENST00000251472.4	+	5	450	c.411C>T	c.(409-411)ttC>ttT	p.F137F	MAST1_ENST00000591495.1_Silent_p.F133F	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						CCAAACACTTCGGGAGCACCG	0.677											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(409-411)ttC>ttT		microtubule associated serine/threonine kinase 1							78	66	70					19																	12958187		2203	4300	6503	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.chr19:12958187C>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.411C>T	19.37:g.12958187C>T			Somatic	OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	MAST1_ENST00000591495.1_Silent_p.F133F	p.F137F	NM_014975.2	NP_055790.1	WXS	Illumina GAIIx	Phase_I	Q9Y2H9	MAST1_HUMAN			5	450	+			137						Silent	SNP	ENST00000251472.4	37	c.411C>T	CCDS32921.1																																																																																				0.677	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		25	48	0	0	0	1	0	25	48					T	12958187	C	T	12958187	2	4	48	1	0	0	0	0	0	0	0	1	9333	883	31	1		1	MAST1	19	12958187	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	132237	12958187	46170796	3977	8445										
MAST1	22983	broad.mit.edu	37	chr19	12981886	12981886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagtgaccacaacgcccttcGaaaatacctctatccgcatt	5	15	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12981886G>A	ENST00000251472.4	+	24	3202	c.3163G>A	c.(3163-3165)Gaa>Aaa	p.E1055K	AC020934.1_ENST00000578125.1_RNA	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						AACGCCCTTCGAAAATACCTC	0.607																																						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.(3163-3165)Gaa>Aaa		microtubule associated serine/threonine kinase 1							93	93	93					19																	12981886		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.chr19:12981886G>A	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.3163G>A	19.37:g.12981886G>A	ENSP00000251472:p.Glu1055Lys		Somatic					p.E1055K	NM_014975.2	NP_055790.1	WXS	Illumina GAIIx	Phase_I	Q9Y2H9	MAST1_HUMAN			24	3202	+			1055			PDZ.			Missense_Mutation	SNP	ENST00000251472.4	37	c.3163G>A	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	35	5.427881	0.96131	.	.	ENSG00000105613	ENST00000251472	T	0.42131	0.98	4.85	4.85	0.62838	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.59851	0.2224	L	0.55481	1.735	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.63567	-0.6608	10	0.87932	D	0	-17.6608	15.4466	0.75235	0.0:0.0:1.0:0.0	.	1055	Q9Y2H9	MAST1_HUMAN	K	1055	ENSP00000251472:E1055K	ENSP00000251472:E1055K	E	+	1	0	MAST1	12842886	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.869000	0.99810	2.227000	0.72691	0.462000	0.41574	GAA		0.607	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		19	156	0	0	0	1	0	19	156					A	12981886	G	A	12981886	3	1	48	1	0	0	0	0	1	0	0	0	9333	1059	37	1	3257	1	MAST1	19	12981886	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	23699	12981886	46147097	3978	8446										
SYCE2	256126	broad.mit.edu	37	chr19	13015378	13015378	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggctcttgttgatgttttcGatcagctcctgggctctctt	10	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:13015378G>A	ENST00000293695.7	-	3	252	c.234C>T	c.(232-234)atC>atT	p.I78I	SYCE2_ENST00000591229.1_5'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	78					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TGATGTTTTCGATCAGCTCCT	0.552																																						ENST00000293695.7																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						c.(232-234)atC>atT		synaptonemal complex central element protein 2							228	229	229					19																	13015378		2079	4209	6288	SO:0001819	synonymous_variant	256126				cell division	central element		g.chr19:13015378G>A	AK097443	CCDS42509.1	19p13.13	2008-02-05				ENSG00000161860			27411	protein-coding gene	gene with protein product	"central element synaptonemal complex 1"	611487				15944401	Standard	NM_001105578		Approved	CESC1	uc002mvr.2	Q6PIF2		ENST00000293695.7:c.234C>T	19.37:g.13015378G>A			Somatic				SYCE2_ENST00000591229.1_5'UTR	p.I78I	NM_001105578.1	NP_001099048.1	WXS	Illumina GAIIx	Phase_I	Q6PIF2	SYCE2_HUMAN			3	252	-			78					B4DYD3	Silent	SNP	ENST00000293695.7	37	c.234C>T	CCDS42509.1																																																																																				0.552	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451913.1	XM_497609		54	98	0	0	0	1	0	54	98					A	13015378	G	A	13015378	2	1	48	1	0	0	0	0	0	0	0	1	15444	1048	37	1		1	SYCE2	19	13015378	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	33492	13015378	46113605	3979	8447										
LYL1	4066	broad.mit.edu	37	chr19	13211649	13211649	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccaccccagatccccactgAcctgttgaggaaggggtgag	12	14	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:13211649A>G	ENST00000264824.4	-	2	696		c.e2+1			NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia associated hematopoiesis regulator 1						B cell differentiation (GO:0030183)|blood vessel maturation (GO:0001955)|definitive hemopoiesis (GO:0060216)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			ATCCCCACTGACCTGTTGAGG	0.652			T	TRB@	T-ALL																																	ENST00000264824.4				Dom	yes		19	19p13.2-p13.1	4066	T	lymphoblastic leukemia derived sequence 1			L	TRB@		T-ALL		0				cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7						c.e2+1		lymphoblastic leukemia derived sequence 1							12	14	13					19																	13211649		2090	4134	6224	SO:0001630	splice_region_variant	4066				B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:13211649A>G		CCDS12292.1	19p13.2	2014-01-20	2014-01-20			ENSG00000104903		"Basic helix-loop-helix proteins"	6734	protein-coding gene	gene with protein product		151440	"lymphoblastic leukemia derived sequence 1"			2752424	Standard	NM_005583		Approved	bHLHa18	uc002mwi.3	P12980		ENST00000264824.4:c.335+1T>C	19.37:g.13211649A>G			Somatic						NM_005583.4	NP_005574.2	WXS	Illumina GAIIx	Phase_I	P12980	LYL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)		2	696	-								O76102	Splice_Site	SNP	ENST00000264824.4	37		CCDS12292.1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.776687	0.70107	.	.	ENSG00000104903	ENST00000264824	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1044	0.59239	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LYL1	13072649	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.203000	0.58453	1.738000	0.51689	0.454000	0.30748	.		0.652	LYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452827.1	NM_005583	Intron	8	7	0	0	0	1	0	8	7					G	13211649	A	G	13211649	5	3	48	1	0	0	0	0	0	0	1	0	9115	289	10	4	517	4	LYL1	19	13211649	Splice_Site	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	196271	13211649	45917334	3980	8448										
CACNA1A	773	broad.mit.edu	37	chr19	13482541	13482541	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgagcggccgcagcactcGaactgccctcagcgtccgta	11	16	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:13482541G>A	ENST00000360228.5	-	4	591	c.592C>T	c.(592-594)Cga>Tga	p.R198*	CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.R198*	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	198					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)	CGCAGCACTCGAACTGCCCTC	0.582																																						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.(592-594)Cga>Tga		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						19	23	22					19																	13482541		1994	4157	6151	SO:0001587	stop_gained	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13482541G>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.592C>T	19.37:g.13482541G>A	ENSP00000353362:p.Arg198*		Somatic				CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.R198*	p.R198*	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)		4	591	-			198					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Nonsense_Mutation	SNP	ENST00000360228.5	37	c.592C>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	36	5.849290	0.97023	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	.	.	.	4.91	3.87	0.44632	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1016	0.53788	0.0853:0.0:0.9147:0.0	.	.	.	.	X	198	.	ENSP00000317661:R198X	R	-	1	2	CACNA1A	13343541	1.000000	0.71417	0.984000	0.44739	0.777000	0.43975	4.483000	0.60264	1.081000	0.41110	-0.136000	0.14681	CGA		0.582	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		4	11	0	0	0	1	0	4	11					A	13482541	G	A	13482541	4	1	48	1	0	0	0	0	0	1	0	0	2540	1066	37	1	7218	1	CACNA1A	19	13482541	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	270892	13482541	45646442	3981	8449										
CLEC17A	388512	broad.mit.edu	37	chr19	14705455	14705455	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctcctcagcaaaggaaacaGagaaacccccacttccttgc	6	16	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:14705455G>T	ENST00000417570.1	+	6	360	c.322G>T	c.(322-324)Gag>Tag	p.E108*	CLEC17A_ENST00000397439.2_Nonsense_Mutation_p.E91*|CLEC17A_ENST00000547437.1_Nonsense_Mutation_p.E108*	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	108						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										AAAGGAAACAGAGAAACCCCC	0.572																																						ENST00000547437.1																			0											c.(322-324)Gag>Tag		C-type lectin domain family 17, member A							87	87	87					19																	14705455		1940	4149	6089	SO:0001587	stop_gained	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14705455G>T	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"C-type lectin domain containing"	34520	protein-coding gene	gene with protein product	"prolectin"					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.322G>T	19.37:g.14705455G>T	ENSP00000393719:p.Glu108*		Somatic				CLEC17A_ENST00000417570.1_Nonsense_Mutation_p.E108*|CLEC17A_ENST00000397439.2_Nonsense_Mutation_p.E91*	p.E108*	NM_207390.3	NP_997273.3	WXS	Illumina GAIIx	Phase_I	Q6ZS10	CL17A_HUMAN			6	399	+			108					A8MX68|B2RTX0|B7ZMM4	Nonsense_Mutation	SNP	ENST00000417570.1	37	c.322G>T	CCDS56087.1	.	.	.	.	.	.	.	.	.	.	g	16.12	3.031914	0.54790	.	.	ENSG00000187912	ENST00000547437;ENST00000397439;ENST00000417570	.	.	.	3.06	1.86	0.25419	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-29.4539	5.6997	0.17875	0.2051:0.0:0.7949:0.0	.	.	.	.	X	108;91;108	.	ENSP00000341620:E108X	E	+	1	0	CLEC17A	14566455	0.804000	0.28969	0.014000	0.15608	0.022000	0.10575	1.058000	0.30504	0.436000	0.26393	0.450000	0.29827	GAG		0.572	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		23	59	1	0	7.87624e-14	1	1.01695e-13	23	59					T	14705455	G	T	14705455	4	4	48	1	0	0	0	0	0	1	0	0	3503	943	33	2	289	2	CLEC17A	19	14705455	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1222914	14705455	44423528	3982	8450										
OR7C1	26664	broad.mit.edu	37	chr19	14910876	14910876	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaacagcccaaagagaatgaActgaatctctgacgttgctg	10	9	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:14910876A>G	ENST00000248073.2	-	1	147	c.73T>C	c.(73-75)Ttc>Ctc	p.F25L	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	25					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAGAGAATGAACTGAATCTCT	0.483																																						ENST00000248073.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						c.(73-75)Ttc>Ctc		olfactory receptor, family 7, subfamily C, member 1							94	87	89					19																	14910876		2203	4300	6503	SO:0001583	missense	26664				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14910876A>G	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.73T>C	19.37:g.14910876A>G	ENSP00000248073:p.Phe25Leu		Somatic				OR7A5_ENST00000601611.1_Intron	p.F25L	NM_198944.1	NP_945182.1	WXS	Illumina GAIIx	Phase_I	O76099	OR7C1_HUMAN			1	147	-			25					Q15621|Q6IFP2|Q96R94	Missense_Mutation	SNP	ENST00000248073.2	37	c.73T>C	CCDS12317.1	.	.	.	.	.	.	.	.	.	.	a	11.00	1.511011	0.27036	.	.	ENSG00000127530	ENST00000248073	T	0.00402	7.56	3.77	-7.54	0.01332	.	1.696240	0.04129	N	0.317634	T	0.00109	0.0003	N	0.00223	-1.815	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51857	-0.8652	10	0.49607	T	0.09	.	10.3635	0.44010	0.1489:0.0:0.7048:0.1463	.	25	O76099	OR7C1_HUMAN	L	25	ENSP00000248073:F25L	ENSP00000248073:F25L	F	-	1	0	OR7C1	14771876	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.341000	0.00250	-1.870000	0.01139	-0.419000	0.06015	TTC		0.483	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1			39	81	0	0	0	1	0	39	81					G	14910876	A	G	14910876	3	3	48	1	0	0	0	0	1	0	0	0	11226	43	2	4	891	4	OR7C1	19	14910876	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	205421	14910876	44218107	3983	8451										
OR7A10	390892	broad.mit.edu	37	chr19	14952650	14952650	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcctctgaaattcccaggaGaagaaattctaaaattattg	6	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:14952650G>T	ENST00000248058.1	-	1	39	c.40C>A	c.(40-42)Ctc>Atc	p.L14I		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	14						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)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					ATTCCCAGGAGAAGAAATTCT	0.443																																						ENST00000248058.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19						c.(40-42)Ctc>Atc		olfactory receptor, family 7, subfamily A, member 10							51	54	53					19																	14952650		2203	4300	6503	SO:0001583	missense	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14952650G>T		CCDS32936.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.40C>A	19.37:g.14952650G>T	ENSP00000248058:p.Leu14Ile		Somatic					p.L14I	NM_001005190.1	NP_001005190.1	WXS	Illumina GAIIx	Phase_I	O76100	OR7AA_HUMAN			1	39	-	Ovarian(108;0.203)		14					Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	c.40C>A	CCDS32936.1	.	.	.	.	.	.	.	.	.	.	g	16.61	3.171754	0.57584	.	.	ENSG00000127515	ENST00000248058	T	0.00561	6.59	2.74	2.74	0.32292	.	0.000000	0.34110	U	0.004252	T	0.01730	0.0055	M	0.80422	2.495	0.09310	N	1	D	0.67145	0.996	D	0.79108	0.992	T	0.25710	-1.0124	10	0.87932	D	0	.	7.1446	0.25575	0.0:0.0:0.7327:0.2672	.	14	O76100	OR7AA_HUMAN	I	14	ENSP00000248058:L14I	ENSP00000248058:L14I	L	-	1	0	OR7A10	14813650	.	.	0.043000	0.18650	0.446000	0.32137	.	.	1.567000	0.49668	0.420000	0.28162	CTC		0.443	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		26	43	1	0	2.41591e-17	1	3.2383e-17	26	43					T	14952650	G	T	14952650	3	4	48	1	0	0	0	0	1	0	0	0	11223	942	33	2	893	2	OR7A10	19	14952650	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	41774	14952650	44176333	3984	8452										
OR7C2	26658	broad.mit.edu	37	chr19	15052725	15052725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catgaacccccggctctgtgGactgctggttctggggtcct	13	13	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:15052725G>A	ENST00000248072.3	+	1	425	c.425G>A	c.(424-426)gGa>gAa	p.G142E		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CGGCTCTGTGGACTGCTGGTT	0.542																																						ENST00000248072.3																			0				large_intestine(3)|lung(8)|ovary(2)|skin(2)	15						c.(424-426)gGa>gAa		olfactory receptor, family 7, subfamily C, member 2							146	144	145					19																	15052725		2203	4300	6503	SO:0001583	missense	26658				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15052725G>A	U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"GPCR / Class A : Olfactory receptors"	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.425G>A	19.37:g.15052725G>A	ENSP00000248072:p.Gly142Glu		Somatic					p.G142E	NM_012377.1	NP_036509.1	WXS	Illumina GAIIx	Phase_I	O60412	OR7C2_HUMAN			1	425	+	Ovarian(108;0.203)		142					O43881|Q6IFP9	Missense_Mutation	SNP	ENST00000248072.3	37	c.425G>A	CCDS12320.1	.	.	.	.	.	.	.	.	.	.	g	10.90	1.481952	0.26598	.	.	ENSG00000127529	ENST00000248072	T	0.37752	1.18	4.19	-8.38	0.00973	GPCR, rhodopsin-like superfamily (1);	2.522040	0.02685	N	0.110072	T	0.41166	0.1147	M	0.89095	3.005	0.09310	N	1	B	0.21309	0.054	B	0.30316	0.114	T	0.43261	-0.9402	10	0.62326	D	0.03	.	2.2793	0.04110	0.1328:0.2525:0.1978:0.4169	.	142	O60412	OR7C2_HUMAN	E	142	ENSP00000248072:G142E	ENSP00000248072:G142E	G	+	2	0	OR7C2	14913725	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.497000	0.02289	-2.562000	0.00473	-0.413000	0.06143	GGA		0.542	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1			52	85	0	0	0	1	0	52	85					A	15052725	G	A	15052725	3	1	48	1	0	0	0	0	1	0	0	0	11227	1174	41	3	427	3	OR7C2	19	15052725	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	100075	15052725	44076258	3985	8453										
CYP4F8	11283	broad.mit.edu	37	chr19	15739598	15739598	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accccttccgcttcgacccaGaaaacgcccagaagaggtca	8	16	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:15739598G>A	ENST00000441682.2	+	0	1403							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CTTCGACCCAGAAAACGCCCA	0.602																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							60	63	62					19																	15739598		1963	4170	6133			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15739598G>A	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"Cytochrome P450s"	2648	protein-coding gene	gene with protein product		611545	"cytochrome P450, subfamily IVF, polypeptide 8"			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15739598G>A			Somatic								WXS	Illumina GAIIx	Phase_I	P98187	CP4F8_HUMAN			0	1403	+									RNA	SNP	ENST00000441682.2	37			.	.	.	.	.	.	.	.	.	.	.	9.917	1.211069	0.22289	.	.	ENSG00000186526	ENST00000441682;ENST00000325723	.	.	.	3.32	2.19	0.27852	.	0.604873	0.14758	U	0.300150	T	0.47746	0.1462	.	.	.	0.34078	D	0.659270	B;B	0.23990	0.022;0.095	B;B	0.37451	0.071;0.25	T	0.59495	-0.7444	7	0.59425	D	0.04	.	7.34	0.26632	0.1553:0.0:0.8447:0.0	.	260;448	B4DU85;P98187	.;CP4F8_HUMAN	K	447;260	.	ENSP00000314398:E260K	E	+	1	0	CYP4F8	15600598	0.358000	0.24947	0.618000	0.29105	0.228000	0.25075	2.091000	0.41691	1.681000	0.50988	0.436000	0.28706	GAA		0.602	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		28	60	0	0	0	1	0	28	60					A	15739598	G	A	15739598	1	1	48	0	1	0	0	0	0	0	0	0	4193	943	33	3		3	CYP4F8	19	15739598	RNA	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	686873	15739598	43389385	3986	8454										
CYP4F12	66002	broad.mit.edu	37	chr19	15795927	15795927	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgggtcctgtacaaccttgcGaggcacccagaataccagga	11	12	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:15795927G>A	ENST00000550308.1	+	9	1415	c.1035G>A	c.(1033-1035)gcG>gcA	p.A345A	CYP4F12_ENST00000324632.10_Silent_p.A345A	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	345					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)	ACAACCTTGCGAGGCACCCAG	0.592																																						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.(1033-1035)gcG>gcA		cytochrome P450, family 4, subfamily F, polypeptide 12							57	54	55					19																	15795927		2203	4300	6503	SO:0001819	synonymous_variant	66002							g.chr19:15795927G>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.1035G>A	19.37:g.15795927G>A			Somatic				CYP4F12_ENST00000324632.9_Silent_p.A345A	p.A345A	NM_023944.3	NP_076433.3	WXS	Illumina GAIIx	Phase_I					9	1415	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	c.1035G>A	CCDS42517.1																																																																																				0.592	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			22	36	0	0	0	1	0	22	36					A	15795927	G	A	15795927	2	1	48	1	0	0	0	0	0	0	0	1	4189	1045	37	1		1	CYP4F12	19	15795927	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	56329	15795927	43333056	3987	8455										
CYP4F2	8529	broad.mit.edu	37	chr19	15997104	15997104	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtcctcatcagataacttCttcccgtcttcatcctggag	6	13	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:15997104C>A	ENST00000221700.6	-	8	1028	c.933G>T	c.(931-933)aaG>aaT	p.K311N	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGATAACTTCTTCCCGTCTT	0.532																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(931-933)aaG>aaT		cytochrome P450, family 4, subfamily F, polypeptide 2							181	182	182					19																	15997104		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.chr19:15997104C>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.933G>T	19.37:g.15997104C>A	ENSP00000221700:p.Lys311Asn		Somatic				CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Missense_Mutation_p.K311N	p.K311N	NM_001082.3	NP_001073.3	WXS	Illumina GAIIx	Phase_I	P78329	CP4F2_HUMAN			8	1028	-			311						Missense_Mutation	SNP	ENST00000221700.6	37	c.933G>T	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	0.496	-0.873323	0.02570	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.69685	-0.42	2.73	1.66	0.24008	.	0.992745	0.08160	U	0.988700	T	0.54759	0.1878	L	0.37507	1.11	0.28076	N	0.932391	B	0.15719	0.014	B	0.29077	0.098	T	0.49588	-0.8924	10	0.35671	T	0.21	.	3.4829	0.07609	0.2466:0.6089:0.0:0.1445	.	311	P78329	CP4F2_HUMAN	N	311;162	ENSP00000221700:K311N	ENSP00000221700:K311N	K	-	3	2	CYP4F2	15858104	0.000000	0.05858	0.358000	0.25811	0.054000	0.15201	-1.001000	0.03690	0.454000	0.26884	0.313000	0.20887	AAG		0.532	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		97	158	1	0	9.72315e-31	1	1.38941e-30	97	158					A	15997104	C	A	15997104	3	1	48	1	0	0	0	0	1	0	0	0	4190	912	32	2	653	2	CYP4F2	19	15997104	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	201177	15997104	43131879	3988	8456										
NXNL1	115861	broad.mit.edu	37	chr19	17571484	17571484	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagccgcccgcagtacataGaactcatctgtgagccgcac	10	14	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:17571484G>T	ENST00000301944.2	-	1	279	c.195C>A	c.(193-195)ttC>ttA	p.F65L	CTD-2521M24.10_ENST00000594663.1_5'UTR	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	65	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				photoreceptor cell maintenance (GO:0045494)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						GCAGTACATAGAACTCATCTG	0.597																																						ENST00000301944.2																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(193-195)ttC>ttA		nucleoredoxin-like 1							76	71	73					19																	17571484		2203	4300	6503	SO:0001583	missense	115861				cell redox homeostasis	nuclear outer membrane		g.chr19:17571484G>T	BC014127	CCDS12360.1	19p13.11	2014-05-21	2007-08-16	2007-08-16	ENSG00000171773	ENSG00000171773			25179	protein-coding gene	gene with protein product		608791	"thioredoxin-like 6"	TXNL6		12477932	Standard	NM_138454		Approved	RDCVF	uc002ngs.3	Q96CM4	OTTHUMG00000182798	ENST00000301944.2:c.195C>A	19.37:g.17571484G>T	ENSP00000305631:p.Phe65Leu		Somatic				CTD-2521M24.10_ENST00000594663.1_5'UTR	p.F65L	NM_138454.1	NP_612463.1	WXS	Illumina GAIIx	Phase_I	Q96CM4	NXNL1_HUMAN			1	279	-			65			Thioredoxin.		Q0QD37	Missense_Mutation	SNP	ENST00000301944.2	37	c.195C>A	CCDS12360.1	.	.	.	.	.	.	.	.	.	.	g	14.42	2.528933	0.44969	.	.	ENSG00000171773	ENST00000301944	D	0.84223	-1.82	3.92	3.92	0.45320	Thioredoxin-like fold (3);	0.238696	0.42682	D	0.000679	D	0.83783	0.5329	L	0.40543	1.245	0.47778	D	0.999516	P	0.48162	0.906	P	0.52343	0.696	T	0.80439	-0.1382	10	0.20046	T	0.44	-21.1237	13.4448	0.61134	0.0:0.0:1.0:0.0	.	65	Q96CM4	NXNL1_HUMAN	L	65	ENSP00000305631:F65L	ENSP00000305631:F65L	F	-	3	2	NXNL1	17432484	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	1.091000	0.30915	2.018000	0.59344	0.467000	0.42956	TTC		0.597	NXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463803.1	NM_138454		42	74	1	0	4.14481e-20	1	5.66236e-20	42	74					T	17571484	G	T	17571484	3	4	48	1	0	0	0	0	1	0	0	0	10797	933	33	2	451	2	NXNL1	19	17571484	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1574380	17571484	41557499	3989	8457										
SLC27A1	376497	broad.mit.edu	37	chr19	17598015	17598015	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagcgggcatctggggaaaAgtttgatcaagttctgctct	13	7	4	2	rs199913865		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:17598015A>C	ENST00000252595.7	+	3	692	c.595A>C	c.(595-597)Agt>Cgt	p.S199R	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.S199R|SLC27A1_ENST00000598424.1_Missense_Mutation_p.S20R	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	199	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTGGGGAAAAGTTTGATCAA	0.647																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(595-597)Agt>Cgt		solute carrier family 27 (fatty acid transporter), member 1							87	90	89					19																	17598015		2203	4300	6503	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17598015A>C	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.595A>C	19.37:g.17598015A>C	ENSP00000252595:p.Ser199Arg		Somatic				SLC27A1_ENST00000442725.1_Missense_Mutation_p.S199R|SLC27A1_ENST00000598424.1_Missense_Mutation_p.S20R	p.S199R	NM_198580.1	NP_940982.1	WXS	Illumina GAIIx	Phase_I	Q6PCB7	S27A1_HUMAN			3	692	+			199			Sufficient for oligomerization (By similarity).		A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.595A>C	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	A	8.280	0.815317	0.16607	.	.	ENSG00000130304	ENST00000442725;ENST00000252595;ENST00000300969	T;T	0.48836	0.8;0.8	4.65	3.55	0.40652	AMP-dependent synthetase/ligase (1);	0.228496	0.45606	D	0.000344	T	0.33585	0.0868	L	0.37697	1.125	0.37822	D	0.928406	B;B	0.10296	0.003;0.003	B;B	0.21151	0.033;0.033	T	0.17776	-1.0358	10	0.15499	T	0.54	.	9.0998	0.36662	0.8154:0.1846:0.0:0.0	.	20;199	B7Z662;Q6PCB7	.;S27A1_HUMAN	R	199;199;61	ENSP00000413424:S199R;ENSP00000252595:S199R	ENSP00000252595:S199R	S	+	1	0	SLC27A1	17459015	0.307000	0.24500	0.989000	0.46669	0.015000	0.08874	1.560000	0.36331	1.734000	0.51633	0.379000	0.24179	AGT		0.647	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		10	51	0	0	0	1	0	10	51					C	17598015	A	C	17598015	3	2	48	1	0	0	0	0	1	0	0	0	14540	72	3	4	605	4	SLC27A1	19	17598015	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	26531	17598015	41530968	3990	8458										
JAK3	3718	broad.mit.edu	37	chr19	17948837	17948837	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcatggcgacagccccggtaAatcttggtgaaggacccatg	12	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:17948837A>C	ENST00000527670.1	-	11	1634	c.1605T>G	c.(1603-1605)atT>atG	p.I535M	JAK3_ENST00000458235.1_Missense_Mutation_p.I535M|JAK3_ENST00000526008.1_5'Flank|JAK3_ENST00000534444.1_Missense_Mutation_p.I535M			P52333	JAK3_HUMAN	Janus kinase 3	535	Protein kinase 1. {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)	AGCCCCGGTAAATCTTGGTGA	0.592		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.(1603-1605)atT>atG		Janus kinase 3							114	110	111					19																	17948837		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.chr19:17948837A>C	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.1605T>G	19.37:g.17948837A>C	ENSP00000432511:p.Ile535Met		Somatic				JAK3_ENST00000534444.1_Missense_Mutation_p.I535M|JAK3_ENST00000527670.1_Missense_Mutation_p.I535M	p.I535M	NM_000215.3	NP_000206.2	WXS	Illumina GAIIx	Phase_I	P52333	JAK3_HUMAN			12	1704	-			535			Protein kinase 1.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.1605T>G	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384062	0.61845	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.63744	-0.06;-0.06;-0.06	4.93	-3.09	0.05331	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.128993	0.49916	D	0.000132	T	0.75874	0.3909	M	0.87547	2.89	0.42859	D	0.994105	D;D	0.89917	1.0;0.996	D;D	0.80764	0.994;0.98	T	0.75880	-0.3161	10	0.87932	D	0	-16.9066	9.6225	0.39730	0.1912:0.0:0.6619:0.1469	.	535;535	P52333-2;P52333	.;JAK3_HUMAN	M	535	ENSP00000391676:I535M;ENSP00000432511:I535M;ENSP00000436421:I535M	ENSP00000413248:I535M	I	-	3	3	JAK3	17809837	0.307000	0.24500	0.985000	0.45067	0.785000	0.44390	-0.259000	0.08721	-0.581000	0.05937	0.260000	0.18958	ATT		0.592	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		4	167	0	0	0	1	0	4	167					C	17948837	A	C	17948837	3	2	48	1	0	0	0	0	1	0	0	0	7948	10	1	4	1821	4	JAK3	19	17948837	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	350822	17948837	41180146	3991	8459										
SLC5A5	6528	broad.mit.edu	37	chr19	17986847	17986847	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttgtcctggcacgcggtgtCatgcttgtgggcgggccccg	17	12	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:17986847C>A	ENST00000222248.3	+	5	977	c.630C>A	c.(628-630)gtC>gtA	p.V210V		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	210					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CACGCGGTGTCATGCTTGTGG	0.607																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(628-630)gtC>gtA		solute carrier family 5 (sodium/iodide cotransporter), member 5							300	224	250					19																	17986847		2203	4300	6503	SO:0001819	synonymous_variant	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17986847C>A		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.630C>A	19.37:g.17986847C>A			Somatic					p.V210V	NM_000453.2	NP_000444.1	WXS	Illumina GAIIx	Phase_I	Q92911	SC5A5_HUMAN			5	977	+			210					O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	c.630C>A	CCDS12368.1																																																																																				0.607	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			25	59	1	0	1.37878e-21	1	1.90629e-21	25	59					A	17986847	C	A	17986847	2	1	48	1	0	0	0	0	0	0	0	1	14683	813	29	2		2	SLC5A5	19	17986847	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	38010	17986847	41142136	3992	8460										
LRRC25	126364	broad.mit.edu	37	chr19	18507553	18507553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaaggtcactggaagctctCgcaggccgttcccagacagg	13	12	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:18507553C>T	ENST00000339007.3	-	1	874	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	LRRC25_ENST00000595840.1_Missense_Mutation_p.R74Q	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	74						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TGGAAGCTCTCGCAGGCCGTT	0.612																																						ENST00000339007.3																			0				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						c.(220-222)cGa>cAa		leucine rich repeat containing 25							77	67	71					19																	18507553		2203	4300	6503	SO:0001583	missense	126364					integral to membrane		g.chr19:18507553C>T	AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.221G>A	19.37:g.18507553C>T	ENSP00000340983:p.Arg74Gln		Somatic				LRRC25_ENST00000595840.1_Missense_Mutation_p.R74Q	p.R74Q	NM_145256.2	NP_660299.2	WXS	Illumina GAIIx	Phase_I	Q8N386	LRC25_HUMAN			1	874	-			74					Q6IQ00|Q8N9A5	Missense_Mutation	SNP	ENST00000339007.3	37	c.221G>A	CCDS12377.1	.	.	.	.	.	.	.	.	.	.	C	5.824	0.336201	0.11013	.	.	ENSG00000175489	ENST00000339007	T	0.08984	3.03	4.24	-5.49	0.02584	.	1.022980	0.07836	N	0.962166	T	0.02230	0.0069	N	0.01576	-0.805	0.09310	N	1	B	0.24043	0.096	B	0.21151	0.033	T	0.46884	-0.9159	10	0.02654	T	1	-4.5448	10.8779	0.46921	0.0:0.2879:0.0:0.7121	.	74	Q8N386	LRC25_HUMAN	Q	74	ENSP00000340983:R74Q	ENSP00000340983:R74Q	R	-	2	0	LRRC25	18368553	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-4.234000	0.00269	-0.786000	0.04516	0.561000	0.74099	CGA		0.612	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256		15	29	0	0	0	1	0	15	29					T	18507553	C	T	18507553	3	4	48	1	0	0	0	0	1	0	0	0	8989	884	31	1	704	1	LRRC25	19	18507553	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	520706	18507553	40621430	3993	8461										
YJEFN3	374887	broad.mit.edu	37	chr19	19643488	19643488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagctgctggaggattatcGctttgggcggcagcagctcg	17	9	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:19643488G>A	ENST00000514277.4	+	3	295	c.257G>A	c.(256-258)cGc>cAc	p.R86H	YJEFN3_ENST00000436027.5_Missense_Mutation_p.R36H|YJEFN3_ENST00000608404.1_Intron|NDUFA13_ENST00000512771.3_Silent_p.S209S|CTC-260F20.3_ENST00000586674.1_3'UTR|CTC-260F20.3_ENST00000555938.1_Intron	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	86	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						GAGGATTATCGCTTTGGGCGG	0.642											OREG0025384	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000514277.3																			0				NS(1)|breast(1)|lung(3)	5						c.(256-258)cGc>cAc		YjeF N-terminal domain containing 3							18	23	21					19																	19643488		2094	4202	6296	SO:0001583	missense	374887							g.chr19:19643488G>A		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.257G>A	19.37:g.19643488G>A	ENSP00000426964:p.Arg86His		Somatic	OREG0025384	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	734	CTC-260F20.3_ENST00000586674.1_3'UTR|CTC-260F20.3_ENST00000555938.1_Intron|YJEFN3_ENST00000436027.4_Missense_Mutation_p.R36H	p.R86H	NM_198537.3	NP_940939.2	WXS	Illumina GAIIx	Phase_I	A6XGL0	YJEN3_HUMAN			3	292	+			86			YjeF N-terminal.		A6XGK9|Q4G1C0	Missense_Mutation	SNP	ENST00000514277.4	37	c.257G>A	CCDS42530.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764962	0.90020	.	.	ENSG00000250067	ENST00000397179;ENST00000436027;ENST00000514277;ENST00000510139	T;T	0.42513	0.97;0.97	4.13	4.13	0.48395	YjeF-related protein, N-terminal (4);	0.140924	0.45867	D	0.000322	T	0.55081	0.1898	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.70935	0.928;0.971	T	0.55192	-0.8179	10	0.46703	T	0.11	1.6778	13.9582	0.64162	0.0:0.0:1.0:0.0	.	36;86	A6XGL0-2;A6XGL0	.;YJEN3_HUMAN	H	86;36;86;36	ENSP00000398520:R36H;ENSP00000426964:R86H	ENSP00000380364:R86H	R	+	2	0	YJEFN3	19504488	0.821000	0.29204	1.000000	0.80357	0.973000	0.67179	2.835000	0.48175	2.166000	0.68216	0.306000	0.20318	CGC		0.642	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		3	9	0	0	0	1	0	3	9					A	19643488	G	A	19643488	3	1	48	1	0	0	0	0	1	0	0	0	17499	1087	38	1	267	1	YJEFN3	19	19643488	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1135935	19643488	39485495	3994	8462										
YJEFN3	374887	broad.mit.edu	37	chr19	19646484	19646484	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcgtgagcctggacatcccCtcaggcatgccaggcagagg	13	14	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:19646484C>A	ENST00000514277.4	+	6	728	c.690C>A	c.(688-690)ccC>ccA	p.P230P	YJEFN3_ENST00000436027.5_Silent_p.P180P|YJEFN3_ENST00000608404.1_Silent_p.P229P|CILP2_ENST00000291495.5_5'Flank|CILP2_ENST00000586018.1_5'Flank|CTC-260F20.3_ENST00000555938.1_Silent_p.P229P	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	230	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						TGGACATCCCCTCAGGCATGC	0.731																																						ENST00000555938.1																			0											c.(685-687)ccC>ccA									5	6	6					19																	19646484		1776	3856	5632	SO:0001819	synonymous_variant	0							g.chr19:19646484C>A		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.690C>A	19.37:g.19646484C>A			Somatic				YJEFN3_ENST00000514277.3_Silent_p.P230P|YJEFN3_ENST00000436027.4_Silent_p.P180P	p.P229P			WXS	Illumina GAIIx	Phase_I					7	699	+								A6XGK9|Q4G1C0	Silent	SNP	ENST00000514277.4	37	c.687C>A	CCDS42530.1																																																																																				0.731	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		7	7	1	0	0.00198382	1	0.00207034	7	7					A	19646484	C	A	19646484	2	1	48	1	0	0	0	0	0	0	0	1	17499	668	24	5		5	YJEFN3	19	19646484	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2996	19646484	39482499	3995	8463										
ZNF101	94039	broad.mit.edu	37	chr19	19790391	19790391	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cactggaaagaggtcctataAatgtagggaaatagtgagag	13	4	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:19790391A>C	ENST00000592502.1	+	4	703	c.593A>C	c.(592-594)aAa>aCa	p.K198T	ZNF101_ENST00000415784.2_Missense_Mutation_p.K78T|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						AGGTCCTATAAATGTAGGGAA	0.383																																						ENST00000592502.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.(592-594)aAa>aCa		zinc finger protein 101							72	79	76					19																	19790391		2203	4300	6503	SO:0001583	missense	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790391A>C	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.593A>C	19.37:g.19790391A>C	ENSP00000468049:p.Lys198Thr		Somatic				ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.K78T	p.K198T			WXS	Illumina GAIIx	Phase_I	Q8IZC7	ZN101_HUMAN			4	703	+			198					C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	c.593A>C	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	A	6.270	0.417927	0.11870	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.07114	3.22;3.22	0.235	0.235	0.15431	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06142	0.0159	L	0.48877	1.53	0.21740	N	0.999564	P	0.47409	0.895	B	0.38056	0.264	T	0.32534	-0.9903	8	.	.	.	.	3.0351	0.06119	0.5244:0.4753:1.0E-4:2.0E-4	.	198	Q8IZC7	ZN101_HUMAN	T	198;198;78	ENSP00000319716:K198T;ENSP00000400952:K78T	.	K	+	2	0	ZNF101	19651391	0.000000	0.05858	0.161000	0.22692	0.160000	0.22226	-0.092000	0.11129	0.263000	0.21812	0.260000	0.18958	AAA		0.383	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		30	46	0	0	0	1	0	30	46					C	19790391	A	C	19790391	3	2	48	1	0	0	0	0	1	0	0	0	17729	14	1	4	607	4	ZNF101	19	19790391	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	143907	19790391	39338592	3996	8464										
ZNF626	199777	broad.mit.edu	37	chr19	20808063	20808063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagagtggttaaaggctttgCcacattcttcacatttgtag	9	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:20808063C>T	ENST00000601440.1	-	4	766	c.620G>A	c.(619-621)gGc>gAc	p.G207D	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AAAGGCTTTGCCACATTCTTC	0.368																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(619-621)gGc>gAc		zinc finger protein 626							49	51	51					19																	20808063		2133	4273	6406	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20808063C>T	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.620G>A	19.37:g.20808063C>T	ENSP00000469958:p.Gly207Asp		Somatic				CTC-513N18.7_ENST00000595094.1_lincRNA	p.G207D	NM_001076675.2	NP_001070143.1	WXS	Illumina GAIIx	Phase_I	Q68DY1	ZN626_HUMAN			4	766	-			207					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.620G>A	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	1.937	-0.444440	0.04604	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.798	-0.6	0.11642	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43722	0.1260	N	0.21097	0.63	0.80722	D	1	B	0.25169	0.119	B	0.36504	0.226	T	0.16276	-1.0408	8	0.62326	D	0.03	.	6.4185	0.21730	0.0:0.7449:0.0:0.2551	.	207	Q68DY1	ZN626_HUMAN	D	207;131;207	.	ENSP00000445201:G207D	G	-	2	0	ZNF626	20599903	0.000000	0.05858	0.046000	0.18839	0.045000	0.14185	0.128000	0.15810	-1.281000	0.02399	-1.274000	0.01402	GGC		0.368	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		22	39	0	0	0	1	0	22	39					T	20808063	C	T	20808063	3	4	48	1	0	0	0	0	1	0	0	0	18065	739	26	3	970	3	ZNF626	19	20808063	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1017672	20808063	38320920	3997	8465										
ZNF85	7639	broad.mit.edu	37	chr19	21132912	21132912	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acttaccaaacataagaaaaTtcatactggagagaaaccct	5	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21132912T>G	ENST00000328178.8	+	4	1705	c.1592T>G	c.(1591-1593)aTt>aGt	p.I531S	ZNF85_ENST00000345030.6_Missense_Mutation_p.I498S|ZNF85_ENST00000601023.1_Missense_Mutation_p.I472S	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	531					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CATAAGAAAATTCATACTGGA	0.348																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(1414-1416)aTt>aGt		zinc finger protein 85							30	34	33					19																	21132912		2165	4274	6439	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132912T>G	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1592T>G	19.37:g.21132912T>G	ENSP00000329793:p.Ile531Ser		Somatic				ZNF85_ENST00000328178.8_Missense_Mutation_p.I531S|ZNF85_ENST00000345030.6_Missense_Mutation_p.I498S	p.I472S			WXS	Illumina GAIIx	Phase_I	Q03923	ZNF85_HUMAN			2	2061	+			531					B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.1415T>G	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	7.549	0.662234	0.14645	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.00659	5.94;5.94	1.35	-0.749	0.11084	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00724	0.0024	L	0.28740	0.885	0.36037	D	0.839821	P;B;B	0.46784	0.884;0.048;0.048	B;B;B	0.40940	0.344;0.048;0.078	T	0.69026	-0.5254	9	0.72032	D	0.01	.	6.1533	0.20324	0.0:0.7471:0.0:0.2529	.	498;472;531	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	S	531;498;406	ENSP00000329793:I531S;ENSP00000342340:I498S	ENSP00000329793:I531S	I	+	2	0	ZNF85	20924752	0.000000	0.05858	0.106000	0.21319	0.269000	0.26545	0.024000	0.13555	-0.196000	0.10366	0.379000	0.24179	ATT		0.348	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		19	23	0	0	0	1	0	19	23					G	21132912	T	G	21132912	3	3	48	1	0	0	0	0	1	0	0	0	18208	1493	52	4	1606	4	ZNF85	19	21132912	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	324849	21132912	37996071	3998	8466										
ZNF714	148206	broad.mit.edu	37	chr19	21300262	21300262	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgaagaatgtggtaaagcTtttaaccacccttcagccct	8	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21300262T>G	ENST00000596143.1	+	5	1117	c.792T>G	c.(790-792)gcT>gcG	p.A264A	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GTGGTAAAGCTTTTAACCACC	0.373																																						ENST00000596143.1																			0				endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						c.(790-792)gcT>gcG		zinc finger protein 714							31	33	33					19																	21300262		2175	4288	6463	SO:0001819	synonymous_variant	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21300262T>G	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.792T>G	19.37:g.21300262T>G			Somatic				ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	p.A264A	NM_182515.3	NP_872321.2	WXS	Illumina GAIIx	Phase_I	Q96N38	ZN714_HUMAN			5	1117	+			265					Q49AI1|Q86W65|Q8ND40	Silent	SNP	ENST00000596143.1	37	c.792T>G	CCDS54239.1																																																																																				0.373	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		9	24	0	0	0	1	0	9	24					G	21300262	T	G	21300262	2	3	48	1	0	0	0	0	0	0	0	1	18133	1596	56	4		4	ZNF714	19	21300262	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	167350	21300262	37828721	3999	8467										
ZNF431	170959	broad.mit.edu	37	chr19	21365476	21365476	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggccagagcaagacataaaaGattcttttcaacaagtaata	7	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21365476G>T	ENST00000311048.7	+	5	514	c.370G>T	c.(370-372)Gat>Tat	p.D124Y	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_Missense_Mutation_p.R131I	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	124					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGACATAAAAGATTCTTTTCA	0.333																																						ENST00000311048.7																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(370-372)Gat>Tat		zinc finger protein 431							64	65	65					19																	21365476		2203	4300	6503	SO:0001583	missense	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21365476G>T	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"Zinc fingers, C2H2-type", "-"	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.370G>T	19.37:g.21365476G>T	ENSP00000308578:p.Asp124Tyr		Somatic				ZNF431_ENST00000600692.1_Missense_Mutation_p.R131I|ZNF431_ENST00000594425.1_Intron	p.D124Y	NM_133473.2	NP_597730.2	WXS	Illumina GAIIx	Phase_I	Q8TF32	ZN431_HUMAN			5	514	+			124					A8KAK7|Q8IWC4	Missense_Mutation	SNP	ENST00000311048.7	37	c.370G>T	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	3.985	-0.005639	0.07773	.	.	ENSG00000196705	ENST00000311048	T	0.07021	3.23	0.362	0.362	0.16113	.	.	.	.	.	T	0.16342	0.0393	M	0.88241	2.94	0.09310	N	1	B	0.27450	0.179	B	0.34242	0.178	T	0.21415	-1.0246	8	0.56958	D	0.05	.	.	.	.	.	124	Q8TF32	ZN431_HUMAN	Y	124	ENSP00000308578:D124Y	ENSP00000308578:D124Y	D	+	1	0	ZNF431	21157316	0.000000	0.05858	0.065000	0.19835	0.062000	0.15995	-1.438000	0.02416	0.433000	0.26313	0.436000	0.28706	GAT		0.333	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		20	25	1	0	5.03518e-11	1	6.23768e-11	20	25					T	21365476	G	T	21365476	3	4	48	1	0	0	0	0	1	0	0	0	17920	942	33	2	388	2	ZNF431	19	21365476	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	65214	21365476	37763507	4000	8468										
ZNF493	284443	broad.mit.edu	37	chr19	21606093	21606093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattagagagaattcttaccGatgtgaagaatgtggcaaag	11	4	1	4	rs145782852	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21606093G>A	ENST00000355504.4	+	2	514	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.R211Q	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	83					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.R83Q(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AATTCTTACCGATGTGAAGAA	0.353													.|||	2	0.000399361	0	0	5008	,	,		18444	0		0	False		,,,				2504	0.002					ENST00000392288.2																			1	Substitution - Missense(1)	p.R83Q(1)	large_intestine(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(631-633)cGa>cAa		zinc finger protein 493		G	GLN/ARG,GLN/ARG	0,4402		0,0,2201	53	59	57		632,248	-0.5	0.1	19	dbSNP_134	57	7,8587		0,7,4290	no	missense,missense	ZNF493	NM_001076678.2,NM_175910.6	43,43	0,7,6491	AA,AG,GG		0.0815,0.0,0.0539	benign,benign	211/775,83/647	21606093	7,12989	2201	4297	6498	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606093G>A	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.248G>A	19.37:g.21606093G>A	ENSP00000347691:p.Arg83Gln		Somatic				ZNF493_ENST00000355504.4_Missense_Mutation_p.R83Q|CTD-2561J22.3_ENST00000600810.1_Intron	p.R211Q	NM_001076678.2	NP_001070146.1	WXS	Illumina GAIIx	Phase_I	Q6ZR52	ZN493_HUMAN			4	741	+			83					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.632G>A	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	6.628	0.484340	0.12641	0.0	8.15E-4	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.36878	1.23;1.23	1.05	-0.455	0.12193	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10337	0.0253	N	0.01188	-0.97	0.09310	N	1	B;B	0.23891	0.014;0.093	B;B	0.12156	0.007;0.005	T	0.21075	-1.0256	9	0.31617	T	0.26	.	2.6681	0.05058	0.5302:0.2697:0.2:0.0	.	83;211	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	Q	211;83	ENSP00000376110:R211Q;ENSP00000347691:R83Q	ENSP00000347691:R83Q	R	+	2	0	ZNF493	21397933	0.012000	0.17670	0.068000	0.19968	0.067000	0.16453	0.061000	0.14366	-0.488000	0.06726	-0.501000	0.04562	CGA		0.353	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		14	34	0	0	0	1	0	14	34					A	21606093	G	A	21606093	3	1	48	1	0	0	0	0	1	0	0	0	17959	1058	37	1	709	1	ZNF493	19	21606093	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	240617	21606093	37522890	4001	8469										
ZNF493	284443	broad.mit.edu	37	chr19	21606234	21606234	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttactacacataagagaaTtcatactggacagaaaccct	5	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21606234T>G	ENST00000355504.4	+	2	655	c.389T>G	c.(388-390)aTt>aGt	p.I130S	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.I258S	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CATAAGAGAATTCATACTGGA	0.368																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(772-774)aTt>aGt		zinc finger protein 493							38	41	40					19																	21606234		2203	4297	6500	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606234T>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.389T>G	19.37:g.21606234T>G	ENSP00000347691:p.Ile130Ser		Somatic				ZNF493_ENST00000355504.4_Missense_Mutation_p.I130S|CTD-2561J22.3_ENST00000600810.1_Intron	p.I258S	NM_001076678.2	NP_001070146.1	WXS	Illumina GAIIx	Phase_I	Q6ZR52	ZN493_HUMAN			4	882	+			130					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.773T>G	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	11.75	1.732639	0.30684	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.17691	2.26;2.26	0.927	0.927	0.19437	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21145	0.0509	N	0.25380	0.74	0.80722	D	1	D;D	0.76494	0.999;0.984	D;D	0.72075	0.976;0.964	T	0.11817	-1.0572	9	0.62326	D	0.03	.	3.7166	0.08441	0.0:0.2463:0.0:0.7537	.	130;258	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	S	258;130	ENSP00000376110:I258S;ENSP00000347691:I130S	ENSP00000347691:I130S	I	+	2	0	ZNF493	21398074	0.001000	0.12720	0.077000	0.20336	0.073000	0.16967	0.805000	0.27112	0.321000	0.23259	0.315000	0.21342	ATT		0.368	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		15	38	0	0	0	1	0	15	38					G	21606234	T	G	21606234	3	3	48	1	0	0	0	0	1	0	0	0	17959	1493	52	4	850	4	ZNF493	19	21606234	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	141	21606234	37522749	4002	8470										
ZNF429	353088	broad.mit.edu	37	chr19	21719871	21719871	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagaatacatactggtgagaAaccctacaaatgtgaagaat	9	6	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21719871A>C	ENST00000358491.4	+	4	1224	c.1016A>C	c.(1015-1017)aAa>aCa	p.K339T	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	339					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(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ACTGGTGAGAAACCCTACAAA	0.388																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(1015-1017)aAa>aCa		zinc finger protein 429							36	40	39					19																	21719871		2153	4276	6429	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21719871A>C	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1016A>C	19.37:g.21719871A>C	ENSP00000351280:p.Lys339Thr		Somatic				ZNF429_ENST00000597078.1_Intron	p.K339T	NM_001001415.2	NP_001001415.2	WXS	Illumina GAIIx	Phase_I	Q86V71	ZN429_HUMAN			4	1224	+			339					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.1016A>C	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	13.61	2.287144	0.40494	.	.	ENSG00000197013	ENST00000358491	T	0.24908	1.83	0.876	0.876	0.19138	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41581	0.1165	L	0.60845	1.875	0.30013	N	0.814994	D	0.69078	0.997	D	0.91635	0.999	T	0.33497	-0.9866	9	0.87932	D	0	.	6.7189	0.23318	1.0:0.0:0.0:0.0	.	339	Q86V71	ZN429_HUMAN	T	339	ENSP00000351280:K339T	ENSP00000351280:K339T	K	+	2	0	ZNF429	21511711	0.346000	0.24844	0.822000	0.32727	0.821000	0.46438	0.515000	0.22801	0.251000	0.21505	0.248000	0.18094	AAA		0.388	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		4	58	0	0	0	1	0	4	58					C	21719871	A	C	21719871	3	2	48	1	0	0	0	0	1	0	0	0	17917	14	1	4	1030	4	ZNF429	19	21719871	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	113637	21719871	37409112	4003	8471										
ZNF100	163227	broad.mit.edu	37	chr19	21909894	21909894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggaccagttaaagcctttgCcgcattcttcacatttgtag	8	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21909894C>T	ENST00000358296.6	-	5	1418	c.1220G>A	c.(1219-1221)gGc>gAc	p.G407D	ZNF100_ENST00000305570.6_Missense_Mutation_p.G343D	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	407					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AAAGCCTTTGCCGCATTCTTC	0.378																																						ENST00000358296.6																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1219-1221)gGc>gAc		zinc finger protein 100							67	74	72					19																	21909894		2158	4278	6436	SO:0001583	missense	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21909894C>T	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"Zinc fingers, C2H2-type", "-"	12880	protein-coding gene	gene with protein product		603982	"zinc finger protein 100 (Y1)"			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1220G>A	19.37:g.21909894C>T	ENSP00000351042:p.Gly407Asp		Somatic				ZNF100_ENST00000305570.6_Missense_Mutation_p.G343D	p.G407D	NM_173531.3	NP_775802.2	WXS	Illumina GAIIx	Phase_I	Q8IYN0	ZN100_HUMAN			5	1418	-			407					Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	c.1220G>A	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	7.640	0.680764	0.14907	.	.	ENSG00000197020	ENST00000358296	T	0.01430	4.9	0.841	0.841	0.18918	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03095	0.0091	N	0.21617	0.685	0.32145	N	0.585036	P;D	0.89917	0.952;1.0	P;D	0.79784	0.886;0.993	T	0.46119	-0.9214	9	0.62326	D	0.03	.	8.3927	0.32537	0.0:1.0:0.0:0.0	.	407;461	Q8IYN0;Q4G131	ZN100_HUMAN;.	D	407	ENSP00000351042:G407D	ENSP00000351042:G407D	G	-	2	0	ZNF100	21701734	0.005000	0.15991	0.010000	0.14722	0.010000	0.07245	0.339000	0.19875	0.182000	0.20032	0.185000	0.17295	GGC		0.378	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		7	48	0	0	0	1	0	7	48					T	21909894	C	T	21909894	3	4	48	1	0	0	0	0	1	0	0	0	17728	739	26	3	412	3	ZNF100	19	21909894	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	190023	21909894	37219089	4004	8472										
ZNF43	7594	broad.mit.edu	37	chr19	21991559	21991559	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttgccacattcttcacatTtgtagggtttctctccagta	6	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21991559T>G	ENST00000354959.4	-	4	1449	c.1280A>C	c.(1279-1281)aAa>aCa	p.K427T	ZNF43_ENST00000595461.1_Missense_Mutation_p.K421T|ZNF43_ENST00000594012.1_Missense_Mutation_p.K421T|ZNF43_ENST00000598381.1_Missense_Mutation_p.K421T	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		TTCTTCACATTTGTAGGGTTT	0.393																																						ENST00000594012.1																			0				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.(1261-1263)aAa>aCa		zinc finger protein 43							63	66	65					19																	21991559		2190	4290	6480	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991559T>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.1280A>C	19.37:g.21991559T>G	ENSP00000347045:p.Lys427Thr		Somatic				ZNF43_ENST00000595461.1_Missense_Mutation_p.K421T|ZNF43_ENST00000354959.4_Missense_Mutation_p.K427T|ZNF43_ENST00000598381.1_Missense_Mutation_p.K421T	p.K421T	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)	7	1776	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	427					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1262A>C	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	T	10.24	1.294802	0.23564	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.58060	0.36	1.75	-1.89	0.07689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64204	0.2577	M	0.63843	1.955	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.56565	-0.7958	9	0.56958	D	0.05	.	8.4894	0.33091	0.0:0.0:0.5954:0.4046	.	427	P17038	ZNF43_HUMAN	T	426;427	ENSP00000347045:K427T	ENSP00000347045:K427T	K	-	2	0	ZNF43	21783399	0.000000	0.05858	0.001000	0.08648	0.217000	0.24651	-1.065000	0.03458	-0.713000	0.04981	0.248000	0.18094	AAA		0.393	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		37	44	0	0	0	1	0	37	44					G	21991559	T	G	21991559	3	3	48	1	0	0	0	0	1	0	0	0	17918	1841	64	4	1153	4	ZNF43	19	21991559	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	81665	21991559	37137424	4005	8473										
ZNF43	7594	broad.mit.edu	37	chr19	21992001	21992001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtagaatttctctccagtgcGaattatcttatgggtagtaa	9	6	2	1	rs199618668		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21992001G>A	ENST00000354959.4	-	4	1007	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	ZNF43_ENST00000595461.1_Missense_Mutation_p.R274C|ZNF43_ENST00000594012.1_Missense_Mutation_p.R274C|ZNF43_ENST00000598381.1_Missense_Mutation_p.R274C	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		TCTCCAGTGCGAATTATCTTA	0.333																																						ENST00000594012.1																			0				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.(820-822)Cgc>Tgc		zinc finger protein 43							55	59	58					19																	21992001		2203	4299	6502	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21992001G>A	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.838C>T	19.37:g.21992001G>A	ENSP00000347045:p.Arg280Cys		Somatic				ZNF43_ENST00000595461.1_Missense_Mutation_p.R274C|ZNF43_ENST00000354959.4_Missense_Mutation_p.R280C|ZNF43_ENST00000598381.1_Missense_Mutation_p.R274C	p.R274C	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)	7	1334	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	280					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.820C>T	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369023	0.24771	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.28255	1.62	1.54	1.54	0.23209	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17492	0.0420	N	0.12502	0.225	0.32962	D	0.521145	B	0.02656	0.0	B	0.01281	0.0	T	0.16512	-1.0400	9	0.72032	D	0.01	.	9.9829	0.41824	0.0:0.0:1.0:0.0	.	280	P17038	ZNF43_HUMAN	C	279;280	ENSP00000347045:R280C	ENSP00000347045:R280C	R	-	1	0	ZNF43	21783841	0.974000	0.33945	0.001000	0.08648	0.033000	0.12548	2.154000	0.42291	0.833000	0.34828	0.195000	0.17529	CGC		0.333	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		19	31	0	0	0	1	0	19	31					A	21992001	G	A	21992001	3	1	48	1	0	0	0	0	1	0	0	0	17918	1058	37	1	1595	1	ZNF43	19	21992001	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	442	21992001	37136982	4006	8474										
ZNF257	113835	broad.mit.edu	37	chr19	22271895	22271895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccggtcttcataccttattcGacataagataattcatactg	5	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22271895G>A	ENST00000594947.1	+	4	1487	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TACCTTATTCGACATAAGATA	0.378																																						ENST00000594947.1																			0				haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.(1342-1344)cGa>cAa		zinc finger protein 257							44	49	48					19																	22271895		2116	4248	6364	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271895G>A	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1343G>A	19.37:g.22271895G>A	ENSP00000470209:p.Arg448Gln		Somatic					p.R448Q	NM_033468.2	NP_258429.2	WXS	Illumina GAIIx	Phase_I	Q9Y2Q1	ZN257_HUMAN			4	1487	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	448					B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.1343G>A	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.339659	0.01277	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-2.23	0.06930	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17238	0.0414	L	0.28776	0.89	0.09310	N	1	B	0.15719	0.014	B	0.10450	0.005	T	0.33343	-0.9872	8	0.10377	T	0.69	.	0.5648	0.00685	0.3657:0.272:0.1925:0.1697	.	448	Q9Y2Q1	ZN257_HUMAN	Q	448;420	.	ENSP00000380312:R420Q	R	+	2	0	ZNF257	22063735	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-14.913000	0.00000	-1.382000	0.02109	-0.657000	0.03884	CGA		0.378	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			20	28	0	0	0	1	0	20	28					A	22271895	G	A	22271895	3	1	48	1	0	0	0	0	1	0	0	0	17815	1058	37	1	1357	1	ZNF257	19	22271895	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	279894	22271895	36857088	4007	8475										
ZNF676	163223	broad.mit.edu	37	chr19	22363533	22363533	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttctctccagcatgaattCtcttgtgttcagtaaggctt	8	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22363533C>A	ENST00000397121.2	-	3	1303	c.986G>T	c.(985-987)aGa>aTa	p.R329I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	329					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)				AGCATGAATTCTCTTGTGTTC	0.408																																						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.(985-987)aGa>aTa		zinc finger protein 676							64	69	67					19																	22363533		2152	4270	6422	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363533C>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.986G>T	19.37:g.22363533C>A	ENSP00000380310:p.Arg329Ile		Somatic					p.R329I	NM_001001411.2	NP_001001411.2	WXS	Illumina GAIIx	Phase_I	Q8N7Q3	ZN676_HUMAN			3	1303	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	329					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.986G>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	2.492	-0.317184	0.05386	.	.	ENSG00000196109	ENST00000397121	T	0.02446	4.29	0.85	-0.442	0.12253	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	M	0.72479	2.2	0.38982	D	0.958968	B	0.06786	0.001	B	0.04013	0.001	T	0.27502	-1.0072	9	0.32370	T	0.25	.	4.5685	0.12198	0.0:0.5185:0.0:0.4815	.	329	Q8N7Q3	ZN676_HUMAN	I	329	ENSP00000380310:R329I	ENSP00000380310:R329I	R	-	2	0	ZNF676	22155373	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-5.109000	0.00150	0.192000	0.20272	0.195000	0.17529	AGA		0.408	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		8	78	1	0	9.31168e-06	1	1.03131e-05	8	78					A	22363533	C	A	22363533	3	1	48	1	0	0	0	0	1	0	0	0	18098	913	32	2	784	2	ZNF676	19	22363533	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	91638	22363533	36765450	4008	8476										
ZNF676	163223	broad.mit.edu	37	chr19	22364033	22364033	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taggaattctctctagtataAattctttcatgttgagatag	7	5	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22364033A>C	ENST00000397121.2	-	3	803	c.486T>G	c.(484-486)atT>atG	p.I162M		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	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)			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)				CTCTAGTATAAATTCTTTCAT	0.338																																						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.(484-486)atT>atG		zinc finger protein 676							68	67	67					19																	22364033		1978	4194	6172	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364033A>C	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.486T>G	19.37:g.22364033A>C	ENSP00000380310:p.Ile162Met		Somatic					p.I162M	NM_001001411.2	NP_001001411.2	WXS	Illumina GAIIx	Phase_I	Q8N7Q3	ZN676_HUMAN			3	803	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	162					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.486T>G	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	9.361	1.068114	0.20067	.	.	ENSG00000196109	ENST00000397121	T	0.17528	2.27	1.03	-0.735	0.11137	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36963	0.0986	M	0.81112	2.525	0.09310	N	1	D	0.71674	0.998	D	0.78314	0.991	T	0.14035	-1.0487	9	0.72032	D	0.01	.	5.8601	0.18743	0.3795:0.0:0.6205:0.0	.	162	Q8N7Q3	ZN676_HUMAN	M	162	ENSP00000380310:I162M	ENSP00000380310:I162M	I	-	3	3	ZNF676	22155873	0.013000	0.17824	0.001000	0.08648	0.006000	0.05464	-0.566000	0.05922	-0.405000	0.07599	0.164000	0.16699	ATT		0.338	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		20	42	0	0	0	1	0	20	42					C	22364033	A	C	22364033	3	2	48	1	0	0	0	0	1	0	0	0	18098	10	1	4	1284	4	ZNF676	19	22364033	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	500	22364033	36764950	4009	8477										
ZNF676	163223	broad.mit.edu	37	chr19	22364261	22364261	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acgttacactcatccacattGgtacaactaatttttaagtg	5	9	1	0	rs371737966		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22364261G>T	ENST00000397121.2	-	3	575	c.258C>A	c.(256-258)acC>acA	p.T86T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	86					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)				CATCCACATTGGTACAACTAA	0.333													G|||	1	0.000199681	0	0	5008	,	,		17025	0		0	False		,,,				2504	0.001					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.(256-258)acC>acA		zinc finger protein 676		G		0,3902		0,0,1951	112	103	106		258	0.1	0.1	19		106	1,8323		0,1,4161	no	coding-synonymous	ZNF676	NM_001001411.2		0,1,6112	TT,TG,GG		0.012,0.0,0.0082		86/589	22364261	1,12225	1951	4162	6113	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364261G>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.258C>A	19.37:g.22364261G>T			Somatic					p.T86T	NM_001001411.2	NP_001001411.2	WXS	Illumina GAIIx	Phase_I	Q8N7Q3	ZN676_HUMAN			3	575	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	86					A8MVX5	Silent	SNP	ENST00000397121.2	37	c.258C>A	CCDS42539.1																																																																																				0.333	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		24	52	1	0	1.64293e-13	1	2.10822e-13	24	52					T	22364261	G	T	22364261	2	4	48	1	0	0	0	0	0	0	0	1	18098	1335	47	5		5	ZNF676	19	22364261	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	228	22364261	36764722	4010	8478										
ZNF99	7652	broad.mit.edu	37	chr19	22939559	22939559	+	IGR	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttcataagggttgaggaaTtgttaaaagctttgccacat	10	5	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22939559T>G	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.N871T|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGTTGAGGAATTGTTAAAAGC	0.358																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2611-2613)aAt>aCt		zinc finger protein 99							37	50	46					19																	22939559		1934	4221	6155	SO:0001628	intergenic_variant	7652							g.chr19:22939559T>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939559T>G			Somatic					p.N871T			WXS	Illumina GAIIx	Phase_I					7	2611	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2612A>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.655	-0.808169	0.02819	.	.	ENSG00000213973	ENST00000397104	T	0.16073	2.37	1.32	-2.33	0.06724	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08268	0.0206	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.38373	-0.9664	8	0.22706	T	0.39	.	3.8954	0.09136	0.0:0.2983:0.3356:0.3661	.	871	A8MXY4	ZNF99_HUMAN	T	871	ENSP00000380293:N871T	ENSP00000380293:N871T	N	-	2	0	ZNF99	22731399	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.177000	0.00570	-0.752000	0.04728	0.138000	0.15974	AAT		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		16	35	0	0	0	1	0	16	35					G	22939559	T	G	22939559	1	3	48	0	1	0	0	0	0	0	0	0	18219	1493	52	4		4	ZNF99	19	22939559	IGR	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	575298	22939559	36189424	4011	8479										
ZNF99	7652	broad.mit.edu	37	chr19	22940624	22940624	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctttccagtatgaattatcTtatgtttcctaagggctgag	8	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22940624T>G	ENST00000596209.1	-	4	2177	c.2087A>C	c.(2086-2088)aAg>aCg	p.K696T	ZNF99_ENST00000397104.3_Missense_Mutation_p.K605T|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	696					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)				ATGAATTATCTTATGTTTCCT	0.363																																						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.(1813-1815)aAg>aCg		zinc finger protein 99							44	47	46					19																	22940624		2061	4220	6281	SO:0001583	missense	7652							g.chr19:22940624T>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2087A>C	19.37:g.22940624T>G	ENSP00000472969:p.Lys696Thr		Somatic				ZNF99_ENST00000596209.1_Missense_Mutation_p.K696T	p.K605T			WXS	Illumina GAIIx	Phase_I					5	1813	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1814A>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	10.78	1.447973	0.26074	.	.	ENSG00000213973	ENST00000397104	T	0.51817	0.69	0.726	-0.425	0.12317	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35307	0.0927	N	0.16903	0.455	0.24955	N	0.991769	P	0.36465	0.554	P	0.45506	0.483	T	0.36480	-0.9746	9	0.72032	D	0.01	.	4.9238	0.13883	0.0:0.2065:0.0:0.7935	.	605	A8MXY4	ZNF99_HUMAN	T	605	ENSP00000380293:K605T	ENSP00000380293:K605T	K	-	2	0	ZNF99	22732464	0.000000	0.05858	0.010000	0.14722	0.265000	0.26407	0.148000	0.16224	-0.215000	0.10063	0.329000	0.21502	AAG		0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		27	50	0	0	0	1	0	27	50					G	22940624	T	G	22940624	3	3	48	1	0	0	0	0	1	0	0	0	18219	1609	56	4	1310	4	ZNF99	19	22940624	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1065	22940624	36188359	4012	8480										
ZNF91	7644	broad.mit.edu	37	chr19	23543617	23543617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atttgaagatcgattaaaagCtttgccacattcttcacatt	5	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23543617C>T	ENST00000300619.7	-	4	2369	c.2164G>A	c.(2164-2166)Gct>Act	p.A722T	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.A690T|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	722					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)				CGATTAAAAGCTTTGCCACAT	0.338																																						ENST00000300619.7																			0											c.(2164-2166)Gct>Act		zinc finger protein 91							19	19	19					19																	23543617		1875	4059	5934	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543617C>T	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.2164G>A	19.37:g.23543617C>T	ENSP00000300619:p.Ala722Thr		Somatic				ZNF91_ENST00000397082.2_Missense_Mutation_p.A690T|ZNF91_ENST00000599743.1_Intron	p.A722T	NM_003430.2	NP_003421.2	WXS	Illumina GAIIx	Phase_I	Q05481	ZNF91_HUMAN			4	2369	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	722					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.2164G>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	2.938	-0.219450	0.06061	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.36157	1.27;1.27	1.86	-3.72	0.04411	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15176	0.0366	N	0.12663	0.25	0.09310	N	1	B;B	0.21606	0.058;0.026	B;B	0.16289	0.009;0.015	T	0.15723	-1.0427	9	0.33141	T	0.24	.	3.2127	0.06689	0.439:0.2732:0.0:0.2879	.	690;722	Q05481-2;Q05481	.;ZNF91_HUMAN	T	722;690	ENSP00000300619:A722T;ENSP00000380272:A690T	ENSP00000300619:A722T	A	-	1	0	ZNF91	23335457	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.162000	0.03141	-1.062000	0.03181	0.205000	0.17691	GCT		0.338	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		7	19	0	0	0	1	0	7	19					T	23543617	C	T	23543617	3	4	48	1	0	0	0	0	1	0	0	0	18215	797	28	3	1415	3	ZNF91	19	23543617	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	602993	23543617	35585366	4013	8481										
ZNF254	9534	broad.mit.edu	37	chr19	24309134	24309134	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaaaaagcaatactgagaaGatatggaaaatatggacatg	9	4	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:24309134G>T	ENST00000357002.4	+	4	447	c.332G>T	c.(331-333)aGa>aTa	p.R111I	ZNF254_ENST00000342944.6_Missense_Mutation_p.R26I	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	111					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATACTGAGAAGATATGGAAAA	0.343																																						ENST00000357002.4																			0											c.(331-333)aGa>aTa		zinc finger protein 254							56	59	58					19																	24309134		2202	4299	6501	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309134G>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.332G>T	19.37:g.24309134G>T	ENSP00000349494:p.Arg111Ile		Somatic				ZNF254_ENST00000342944.6_Missense_Mutation_p.R26I	p.R111I	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	WXS	Illumina GAIIx	Phase_I	O75437	ZN254_HUMAN			4	447	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	111					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.332G>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	6.859	0.527772	0.13127	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.10573	2.86;3.16	1.09	-0.495	0.12030	.	.	.	.	.	T	0.19805	0.0476	M	0.69523	2.12	0.09310	N	1	P	0.44380	0.834	P	0.53450	0.726	T	0.14062	-1.0486	9	0.87932	D	0	.	4.1052	0.10033	0.5044:0.0:0.4956:0.0	.	111	O75437	ZN254_HUMAN	I	26;111;111	ENSP00000445527:R26I;ENSP00000349494:R111I	ENSP00000445527:R26I	R	+	2	0	ZNF254	24100974	0.000000	0.05858	0.002000	0.10522	0.110000	0.19582	-1.150000	0.03178	-0.286000	0.09076	0.313000	0.20887	AGA		0.343	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		7	40	1	0	5.18039e-06	1	5.75679e-06	7	40					T	24309134	G	T	24309134	3	4	48	1	0	0	0	0	1	0	0	0	17813	942	33	2	346	2	ZNF254	19	24309134	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	765517	24309134	34819849	4014	8482										
ZNF254	9534	broad.mit.edu	37	chr19	24310052	24310052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgcggcaaaggttttaatcGatcttcaaatcttactacac	6	9	3	0	rs202209095		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:24310052G>A	ENST00000357002.4	+	4	1365	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q	ZNF254_ENST00000342944.6_Missense_Mutation_p.R332Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	417					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GGTTTTAATCGATCTTCAAAT	0.358																																						ENST00000357002.4																			0											c.(1249-1251)cGa>cAa		zinc finger protein 254							41	44	43					19																	24310052		2202	4300	6502	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310052G>A	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1250G>A	19.37:g.24310052G>A	ENSP00000349494:p.Arg417Gln		Somatic				ZNF254_ENST00000342944.6_Missense_Mutation_p.R332Q	p.R417Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	WXS	Illumina GAIIx	Phase_I	O75437	ZN254_HUMAN			4	1365	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	417					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1250G>A	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.849559	0.00066	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.07444	3.19;3.19	1.07	1.07	0.20283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02230	0.0069	N	0.12471	0.22	0.09310	N	1	P	0.39443	0.674	B	0.17979	0.02	T	0.26430	-1.0103	9	0.02654	T	1	.	3.4424	0.07468	0.2942:0.0:0.7058:0.0	.	417	O75437	ZN254_HUMAN	Q	332;417	ENSP00000445527:R332Q;ENSP00000349494:R417Q	ENSP00000445527:R332Q	R	+	2	0	ZNF254	24101892	0.000000	0.05858	0.008000	0.14137	0.607000	0.37147	-0.308000	0.08156	0.525000	0.28522	0.298000	0.19748	CGA		0.358	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		16	19	0	0	0	1	0	16	19					A	24310052	G	A	24310052	3	1	48	1	0	0	0	0	1	0	0	0	17813	1058	37	1	1264	1	ZNF254	19	24310052	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	918	24310052	34818931	4015	8483										
C19orf12	83636	broad.mit.edu	37	chr19	30193874	30193874	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggcacctaacagccccccGacagccccccctagaaaaca	6	20	0	1	rs372589316		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:30193874G>A	ENST00000392278.2	-	3	330	c.204C>T	c.(202-204)gtC>gtT	p.V68V	C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000323670.9_Silent_p.V57V|C19orf12_ENST00000392276.1_5'UTR|C19orf12_ENST00000592153.1_Silent_p.V57V	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	68					cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.V68V(1)				Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			ACAGCCCCCCGACAGCCCCCC	0.522																																						ENST00000323670.9																			1	Substitution - coding silent(1)	p.V68V(1)	endometrium(1)								c.(169-171)gtC>gtT		chromosome 19 open reading frame 12		G	,	1,4405	2.1+/-5.4	0,1,2202	62	69	67		204,171	-2.9	0.1	19		67	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C19orf12	NM_001031726.2,NM_031448.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	68/153,57/142	30193874	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83636					integral to membrane		g.chr19:30193874G>A	AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 4"	614297	"spastic paraplegia 43 (autosomal recessive)"	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.204C>T	19.37:g.30193874G>A			Somatic				C19orf12_ENST00000392278.2_Silent_p.V68V|C19orf12_ENST00000592153.1_Silent_p.V57V|C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000392276.1_5'UTR	p.V57V	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	WXS	Illumina GAIIx	Phase_I	Q9NSK7	CS012_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)		3	310	-	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		57					B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Silent	SNP	ENST00000392278.2	37	c.171C>T	CCDS42542.1																																																																																				0.522	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313509.2	NM_031448		42	73	0	0	0	1	0	42	73					A	30193874	G	A	30193874	2	1	48	1	0	0	0	0	0	0	0	1	1911	1045	37	1		1	C19orf12	19	30193874	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5883822	30193874	28935109	4016	8484										
ZNF536	9745	broad.mit.edu	37	chr19	30934829	30934829	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtcccagatgagcgacatCgaggacgacgcccgcaagaa	12	12	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:30934829C>T	ENST00000355537.3	+	2	507	c.360C>T	c.(358-360)atC>atT	p.I120I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	120					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)					TGAGCGACATCGAGGACGACG	0.637																																						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.(358-360)atC>atT		zinc finger protein 536							64	51	55					19																	30934829		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934829C>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.360C>T	19.37:g.30934829C>T			Somatic					p.I120I	NM_014717.1	NP_055532.1	WXS	Illumina GAIIx	Phase_I	O15090	ZN536_HUMAN			2	507	+	Esophageal squamous(110;0.0834)		120					A2RU18	Silent	SNP	ENST00000355537.3	37	c.360C>T	CCDS32984.1																																																																																				0.637	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		19	39	0	0	0	1	0	19	39					T	30934829	C	T	30934829	2	4	48	1	0	0	0	0	0	0	0	1	17989	874	31	1		1	ZNF536	19	30934829	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	740955	30934829	28194154	4017	8485										
ZNF536	9745	broad.mit.edu	37	chr19	31025807	31025807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccagcaaccagcgctgcttCgcgacagaagcctgggctcg	12	15	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:31025807C>T	ENST00000355537.3	+	3	2371	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	742					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)					AGCGCTGCTTCGCGACAGAAG	0.577																																						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.(2224-2226)Cgc>Tgc		zinc finger protein 536							112	113	113					19																	31025807		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31025807C>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.2224C>T	19.37:g.31025807C>T	ENSP00000347730:p.Arg742Cys		Somatic					p.R742C	NM_014717.1	NP_055532.1	WXS	Illumina GAIIx	Phase_I	O15090	ZN536_HUMAN			3	2371	+	Esophageal squamous(110;0.0834)		742					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2224C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420139	0.62622	.	.	ENSG00000198597	ENST00000355537	T	0.11604	2.76	5.81	4.71	0.59529	.	0.114428	0.64402	D	0.000014	T	0.19046	0.0457	N	0.19112	0.55	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.01436	-1.1355	10	0.87932	D	0	-36.0487	13.6112	0.62080	0.2647:0.7353:0.0:0.0	.	742;742	A7E228;O15090	.;ZN536_HUMAN	C	742	ENSP00000347730:R742C	ENSP00000347730:R742C	R	+	1	0	ZNF536	35717647	1.000000	0.71417	0.758000	0.31321	0.972000	0.66771	2.394000	0.44450	2.746000	0.94184	0.591000	0.81541	CGC		0.577	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		77	92	0	0	0	1	0	77	92					T	31025807	C	T	31025807	3	4	48	1	0	0	0	0	1	0	0	0	17989	884	31	1	2230	1	ZNF536	19	31025807	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	90978	31025807	28103176	4018	8486										
ZNF536	9745	broad.mit.edu	37	chr19	31038888	31038888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtccgcactgtgactatgccGgcacgcagtcagcatcctta	10	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:31038888G>A	ENST00000355537.3	+	4	2509	c.2362G>A	c.(2362-2364)Ggc>Agc	p.G788S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	788					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)					TGACTATGCCGGCACGCAGTC	0.507																																						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.(2362-2364)Ggc>Agc		zinc finger protein 536							66	69	68					19																	31038888		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31038888G>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.2362G>A	19.37:g.31038888G>A	ENSP00000347730:p.Gly788Ser		Somatic					p.G788S	NM_014717.1	NP_055532.1	WXS	Illumina GAIIx	Phase_I	O15090	ZN536_HUMAN			4	2509	+	Esophageal squamous(110;0.0834)		788					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2362G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477108	0.84640	.	.	ENSG00000198597	ENST00000355537	T	0.17370	2.28	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.20901	0.0503	N	0.02751	-0.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.45920	-0.9228	10	0.17832	T	0.49	-33.1648	20.6721	0.99693	0.0:0.0:1.0:0.0	.	788;788	A7E228;O15090	.;ZN536_HUMAN	S	788	ENSP00000347730:G788S	ENSP00000347730:G788S	G	+	1	0	ZNF536	35730728	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.467000	0.97671	2.894000	0.99253	0.591000	0.81541	GGC		0.507	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		24	53	0	0	0	1	0	24	53					A	31038888	G	A	31038888	3	1	48	1	0	0	0	0	1	0	0	0	17989	1116	39	1	2372	1	ZNF536	19	31038888	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	13081	31038888	28090095	4019	8487										
ZNF536	9745	broad.mit.edu	37	chr19	31039523	31039523	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgtgcaggacagcattgcAtggcacggctgcttgttttg	13	9	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:31039523A>G	ENST00000355537.3	+	4	3144	c.2997A>G	c.(2995-2997)gcA>gcG	p.A999A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	999					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)					ACAGCATTGCATGGCACGGCT	0.567																																						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.(2995-2997)gcA>gcG		zinc finger protein 536							74	70	72					19																	31039523		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039523A>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.2997A>G	19.37:g.31039523A>G			Somatic					p.A999A	NM_014717.1	NP_055532.1	WXS	Illumina GAIIx	Phase_I	O15090	ZN536_HUMAN			4	3144	+	Esophageal squamous(110;0.0834)		999					A2RU18	Silent	SNP	ENST00000355537.3	37	c.2997A>G	CCDS32984.1																																																																																				0.567	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		45	84	0	0	0	1	0	45	84					G	31039523	A	G	31039523	2	3	48	1	0	0	0	0	0	0	0	1	17989	204	8	4		4	ZNF536	19	31039523	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	635	31039523	28089460	4020	8488										
TSHZ3	57616	broad.mit.edu	37	chr19	31769642	31769642	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtaagggttggagttcttctGaagtgcatcgttggtgtctg	15	5	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:31769642G>A	ENST00000240587.4	-	2	1384	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	353					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)					GAGTTCTTCTGAAGTGCATCG	0.562																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1057-1059)Cag>Tag		teashirt zinc finger homeobox 3							280	265	270					19																	31769642		2203	4300	6503	SO:0001587	stop_gained	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.chr19:31769642G>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.1057C>T	19.37:g.31769642G>A	ENSP00000240587:p.Gln353*		Somatic					p.Q353*	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	1384	-	Esophageal squamous(110;0.226)		353					Q9H0G6|Q9P254	Nonsense_Mutation	SNP	ENST00000240587.4	37	c.1057C>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441611	0.83993	.	.	ENSG00000121297	ENST00000240587	.	.	.	5.31	5.31	0.75309	.	0.118294	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-23.9686	18.9894	0.92784	0.0:0.0:1.0:0.0	.	.	.	.	X	353	.	ENSP00000240587:Q353X	Q	-	1	0	TSHZ3	36461482	1.000000	0.71417	0.933000	0.37362	0.186000	0.23388	9.441000	0.97557	2.468000	0.83385	0.655000	0.94253	CAG		0.562	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		15	181	0	0	0	1	0	15	181					A	31769642	G	A	31769642	4	1	48	1	0	0	0	0	0	1	0	0	16640	1299	45	3	2192	3	TSHZ3	19	31769642	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	730119	31769642	27359341	4021	8489										
ANKRD27	84079	broad.mit.edu	37	chr19	33134529	33134529	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catttggtgtagagagcattCgctgagtcctaaaccacata	9	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:33134529C>T	ENST00000306065.4	-	6	692	c.534G>A	c.(532-534)gcG>gcA	p.A178A	ANKRD27_ENST00000587352.1_Silent_p.A178A	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	178					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)					AGAGAGCATTCGCTGAGTCCT	0.577																																						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.(532-534)gcG>gcA		ankyrin repeat domain 27 (VPS9 domain)							143	142	142					19																	33134529		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.chr19:33134529C>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.534G>A	19.37:g.33134529C>T			Somatic				ANKRD27_ENST00000587352.1_Silent_p.A178A	p.A178A	NM_032139.2	NP_115515.2	WXS	Illumina GAIIx	Phase_I	Q96NW4	ANR27_HUMAN			6	692	-	Esophageal squamous(110;0.137)		178					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.534G>A	CCDS32986.1																																																																																				0.577	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		79	158	0	0	0	1	0	79	158					T	33134529	C	T	33134529	2	4	48	1	0	0	0	0	0	0	0	1	655	871	31	1		1	ANKRD27	19	33134529	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1364887	33134529	25994454	4022	8490										
RHPN2	85415	broad.mit.edu	37	chr19	33490569	33490569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcatgtggtcgtagagctggGacaggcacttctcctggtgg	16	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:33490569G>A	ENST00000254260.3	-	10	1183	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F	RHPN2_ENST00000400226.4_Missense_Mutation_p.S232F	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	383	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				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)					GTAGAGCTGGGACAGGCACTT	0.597																																						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.(1147-1149)tCc>tTc		rhophilin, Rho GTPase binding protein 2							87	70	75					19																	33490569		2203	4300	6503	SO:0001583	missense	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33490569G>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.1148C>T	19.37:g.33490569G>A	ENSP00000254260:p.Ser383Phe		Somatic				RHPN2_ENST00000400226.4_Missense_Mutation_p.S232F	p.S383F	NM_033103.4	NP_149094.3	WXS	Illumina GAIIx	Phase_I	Q8IUC4	RHPN2_HUMAN			10	1183	-	Esophageal squamous(110;0.137)		383			BRO1.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	c.1148C>T	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027148	0.75390	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.18338	2.22;2.22	4.72	3.68	0.42216	BRO1 domain (2);	0.054691	0.85682	D	0.000000	T	0.36991	0.0987	M	0.83692	2.655	0.58432	D	0.999995	D	0.53151	0.958	P	0.54060	0.741	T	0.42481	-0.9449	10	0.62326	D	0.03	0.8748	14.2947	0.66304	0.0:0.0:0.8501:0.1499	.	383	Q8IUC4	RHPN2_HUMAN	F	383;113;232	ENSP00000254260:S383F;ENSP00000402244:S232F	ENSP00000254260:S383F	S	-	2	0	RHPN2	38182409	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.144000	0.77357	0.977000	0.38444	-0.466000	0.05196	TCC		0.597	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		4	64	0	0	0	1	0	4	64					A	33490569	G	A	33490569	3	1	48	1	0	0	0	0	1	0	0	0	13366	1174	41	3	936	3	RHPN2	19	33490569	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	356040	33490569	25638414	4023	8491										
CHST8	64377	broad.mit.edu	37	chr19	34263626	34263626	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggggtgcgttttcccgagttCgtccagtacctgctggacgt	14	11	0	0	rs571799934		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:34263626C>T	ENST00000262622.4	+	4	1691	c.933C>T	c.(931-933)ttC>ttT	p.F311F	CHST8_ENST00000438847.3_Silent_p.F311F|CHST8_ENST00000434302.1_Silent_p.F311F	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	311					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)			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)					TTCCCGAGTTCGTCCAGTACC	0.652													C|||	1	0.000199681	0	0	5008	,	,		17556	0		0.001	False		,,,				2504	0					ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(931-933)ttC>ttT		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							56	49	51					19																	34263626		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:34263626C>T	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.933C>T	19.37:g.34263626C>T			Somatic				CHST8_ENST00000438847.2_Silent_p.F311F|CHST8_ENST00000434302.1_Silent_p.F311F	p.F311F	NM_022467.3	NP_071912.2	WXS	Illumina GAIIx	Phase_I	Q9H2A9	CHST8_HUMAN			4	1691	+	Esophageal squamous(110;0.162)		311					Q9H3N2	Silent	SNP	ENST00000262622.4	37	c.933C>T	CCDS12433.1																																																																																				0.652	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		21	35	0	0	0	1	0	21	35					T	34263626	C	T	34263626	2	4	48	1	0	0	0	0	0	0	0	1	3412	883	31	1		1	CHST8	19	34263626	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	773057	34263626	24865357	4024	8492										
KIAA0355	9710	broad.mit.edu	37	chr19	34832663	34832663	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacccttcacagtcagctcaGaattccagtaatacagtggc	8	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:34832663G>A	ENST00000299505.6	+	10	2697	c.1824G>A	c.(1822-1824)caG>caA	p.Q608Q		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	608										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)					AGTCAGCTCAGAATTCCAGTA	0.448																																						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.(1822-1824)caG>caA		KIAA0355							60	60	60					19																	34832663		2203	4300	6503	SO:0001819	synonymous_variant	9710							g.chr19:34832663G>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.1824G>A	19.37:g.34832663G>A			Somatic					p.Q608Q	NM_014686.3	NP_055501.2	WXS	Illumina GAIIx	Phase_I	O15063	K0355_HUMAN			10	2697	+	Esophageal squamous(110;0.162)		608					Q2M3W4	Silent	SNP	ENST00000299505.6	37	c.1824G>A	CCDS12436.1																																																																																				0.448	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		33	50	0	0	0	1	0	33	50					A	34832663	G	A	34832663	2	1	48	1	0	0	0	0	0	0	0	1	8179	933	33	3		3	KIAA0355	19	34832663	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	569037	34832663	24296320	4025	8493										
SCGBL	284402	broad.mit.edu	37	chr19	35085454	35085454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcagaagagcacaggtggcGgatgtcaccctcatgacagc	13	11	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:35085454G>A	ENST00000601241.1	-	2	2115	c.15C>T	c.(13-15)tcC>tcT	p.S5S	SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Silent_p.S5S			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2	5						extracellular region (GO:0005576)											CACAGGTGGCGGATGTCACCC	0.587																																						ENST00000601241.1																			0											c.(13-15)tcC>tcT		secretoglobin, family 2B, member 2							80	67	72					19																	35085454		2203	4300	6503	SO:0001819	synonymous_variant	284402					extracellular region	binding	g.chr19:35085454G>A	AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"Secretoglobins"	27616	protein-coding gene	gene with protein product		615063	"secretoglobin-like"	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.15C>T	19.37:g.35085454G>A			Somatic				SCGB2B2_ENST00000379204.2_Silent_p.S5S|SCGB2B2_ENST00000595326.1_Intron	p.S5S			WXS	Illumina GAIIx	Phase_I	Q4G0G5	SCGBL_HUMAN			2	2115	-			5						Silent	SNP	ENST00000601241.1	37	c.15C>T	CCDS32989.1																																																																																				0.587	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461457.2	NM_001025591		15	44	0	0	0	1	0	15	44					A	35085454	G	A	35085454	2	1	48	1	0	0	0	0	0	0	0	1	13917	1103	39	1		1	SCGBL	19	35085454	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	252791	35085454	24043529	4026	8494										
ZNF181	339318	broad.mit.edu	37	chr19	35232056	35232056	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatcctcaatcgccactggaGaattcatacaggagagaagc	9	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:35232056G>T	ENST00000492450.1	+	4	859	c.770G>T	c.(769-771)aGa>aTa	p.R257I	ZNF181_ENST00000459757.2_Missense_Mutation_p.R256I|ZNF181_ENST00000392232.3_Missense_Mutation_p.R301I			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	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)			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)			CGCCACTGGAGAATTCATACA	0.448																																						ENST00000392232.3																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(901-903)aGa>aTa		zinc finger protein 181							90	102	98					19																	35232056		2200	4297	6497	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232056G>T	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.770G>T	19.37:g.35232056G>T	ENSP00000420727:p.Arg257Ile		Somatic				ZNF181_ENST00000459757.1_Missense_Mutation_p.R256I|ZNF181_ENST00000492450.1_Missense_Mutation_p.R257I	p.R301I			WXS	Illumina GAIIx	Phase_I	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1070	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		257					B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.902G>T	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341588	0.41498	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.24908	1.83;1.83;1.83	2.89	1.86	0.25419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44705	0.1306	M	0.83852	2.665	0.37040	D	0.897097	P;D	0.60575	0.67;0.988	B;D	0.65443	0.148;0.935	T	0.48210	-0.9055	9	0.45353	T	0.12	.	4.9285	0.13905	0.2833:0.0:0.7167:0.0	.	256;257	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	I	301;256;257;256	ENSP00000376065:R301I;ENSP00000420727:R257I;ENSP00000419435:R256I	ENSP00000376065:R301I	R	+	2	0	ZNF181	39923896	0.990000	0.36364	0.990000	0.47175	0.882000	0.50991	0.857000	0.27831	0.783000	0.33636	0.491000	0.48974	AGA		0.448	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		63	78	1	0	1.48873e-21	1	2.05779e-21	63	78					T	35232056	G	T	35232056	3	4	48	1	0	0	0	0	1	0	0	0	17764	942	33	2	784	2	ZNF181	19	35232056	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	146602	35232056	23896927	4027	8495										
ZNF599	148103	broad.mit.edu	37	chr19	35251258	35251258	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcatcatgtttataactcaActtctcagggcatatctctt	4	10	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:35251258A>C	ENST00000329285.8	-	4	821	c.448T>G	c.(448-450)Ttg>Gtg	p.L150V		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	150					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)			TTATAACTCAACTTCTCAGGG	0.453																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(448-450)Ttg>Gtg		zinc finger protein 599							135	140	139					19																	35251258		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35251258A>C	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.448T>G	19.37:g.35251258A>C	ENSP00000333802:p.Leu150Val		Somatic					p.L150V	NM_001007248.2	NP_001007249.1	WXS	Illumina GAIIx	Phase_I	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	821	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		150					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.448T>G	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.817745	0.00595	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.21543	2.0	2.57	-1.8	0.07907	.	.	.	.	.	T	0.11196	0.0273	N	0.08118	0	0.09310	N	1	P	0.44659	0.84	B	0.43225	0.412	T	0.27054	-1.0085	9	0.40728	T	0.16	.	9.3423	0.38087	0.3236:0.0:0.6764:0.0	.	150	Q96NL3	ZN599_HUMAN	V	149;150	ENSP00000333802:L150V	ENSP00000333802:L150V	L	-	1	2	ZNF599	39943098	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-1.849000	0.01672	-0.530000	0.06349	0.402000	0.26972	TTG		0.453	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		22	81	0	0	0	1	0	22	81					C	35251258	A	C	35251258	3	2	48	1	0	0	0	0	1	0	0	0	18044	40	2	4	1322	4	ZNF599	19	35251258	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	19202	35251258	23877725	4028	8496										
MAG	4099	broad.mit.edu	37	chr19	35786762	35786762	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgggggacctgggcctgcGaaactgcaccctcctgctca	12	16	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:35786762G>T	ENST00000392213.3	+	4	452	c.293G>T	c.(292-294)cGa>cTa	p.R98L	MAG_ENST00000597035.1_Intron|MAG_ENST00000361922.4_Missense_Mutation_p.R98L|MAG_ENST00000537831.2_Missense_Mutation_p.R73L	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	98	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)			CTGGGCCTGCGAAACTGCACC	0.642																																						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.(292-294)cGa>cTa		myelin associated glycoprotein							91	99	97					19																	35786762		2203	4300	6503	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.chr19:35786762G>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.293G>T	19.37:g.35786762G>T	ENSP00000376048:p.Arg98Leu		Somatic				MAG_ENST00000537831.2_Missense_Mutation_p.R73L|MAG_ENST00000392213.3_Missense_Mutation_p.R98L|MAG_ENST00000597035.1_Intron	p.R98L	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	443	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	98			Ig-like V-type.		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.293G>T	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385421	0.82792	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.46063	0.88;0.88;0.88	5.31	5.31	0.75309	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.305707	0.34411	N	0.003984	T	0.59702	0.2213	M	0.66939	2.045	0.43841	D	0.996424	D;D;D	0.76494	0.993;0.999;0.999	P;D;D	0.65010	0.756;0.931;0.931	T	0.56685	-0.7938	10	0.37606	T	0.19	.	14.8275	0.70125	0.0:0.0:1.0:0.0	.	135;98;98	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	L	135;98;98;73	ENSP00000355234:R98L;ENSP00000376048:R98L;ENSP00000440695:R73L	ENSP00000262624:R135L	R	+	2	0	MAG	40478602	0.999000	0.42202	0.995000	0.50966	0.925000	0.55904	2.950000	0.49081	2.650000	0.89964	0.442000	0.29010	CGA		0.642	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		75	127	1	0	2.23399e-28	1	3.17216e-28	75	127					T	35786762	G	T	35786762	3	4	48	1	0	0	0	0	1	0	0	0	9171	1058	37	2	299	2	MAG	19	35786762	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	535504	35786762	23342221	4029	8497										
TMEM147	10430	broad.mit.edu	37	chr19	36038136	36038136	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagtgtctacaaggcctttgTtatggagtgagttgggtggg	16	5	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36038136T>C	ENST00000222284.5	+	6	690	c.545T>C	c.(544-546)gTt>gCt	p.V182A	AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA|TMEM147_ENST00000392204.2_Missense_Mutation_p.V133A|AD000090.2_ENST00000588286.1_RNA|TMEM147_ENST00000392205.1_Missense_Mutation_p.V182A	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	182						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	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)			AAGGCCTTTGTTATGGAGTGA	0.527																																						ENST00000392204.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(397-399)gTt>gCt		transmembrane protein 147							107	104	105					19																	36038136		2203	4300	6503	SO:0001583	missense	10430					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:36038136T>C	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.545T>C	19.37:g.36038136T>C	ENSP00000222284:p.Val182Ala		Somatic				TMEM147_ENST00000222284.5_Missense_Mutation_p.V182A|TMEM147_ENST00000392205.1_Missense_Mutation_p.V182A	p.V133A	NM_001242597.1	NP_001229526.1	WXS	Illumina GAIIx	Phase_I	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	726	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		182					A8MWW0|O75790	Missense_Mutation	SNP	ENST00000222284.5	37	c.398T>C	CCDS12466.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.618768	0.46736	.	.	ENSG00000105677	ENST00000392204;ENST00000222284;ENST00000392205	T;T;T	0.51071	0.8;0.82;0.72	5.39	5.39	0.77823	.	0.145674	0.43260	D	0.000599	T	0.29491	0.0735	N	0.14661	0.345	0.41417	D	0.987778	B;B	0.34015	0.435;0.156	B;B	0.24541	0.054;0.039	T	0.24870	-1.0148	10	0.66056	D	0.02	.	13.366	0.60684	0.0:0.0:0.0:1.0	.	133;182	A8MWW0;Q9BVK8	.;TM147_HUMAN	A	133;182;182	ENSP00000376040:V133A;ENSP00000222284:V182A;ENSP00000376041:V182A	ENSP00000222284:V182A	V	+	2	0	TMEM147	40729976	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	6.926000	0.75835	2.056000	0.61249	0.533000	0.62120	GTT		0.527	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		4	79	0	0	0	1	0	4	79					C	36038136	T	C	36038136	3	2	48	1	0	0	0	0	1	0	0	0	16076	1725	60	4	567	4	TMEM147	19	36038136	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	251374	36038136	23090847	4030	8498										
HAUS5	23354	broad.mit.edu	37	chr19	36108227	36108227	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcaccctccgggcccagttCctgcagaacctcctgcttcc	8	19	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36108227C>T	ENST00000203166.5	+	8	619	c.594C>T	c.(592-594)ttC>ttT	p.F198F	HAUS5_ENST00000379045.2_Silent_p.F198F	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	198					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)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GGGCCCAGTTCCTGCAGAACC	0.632																																						ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(592-594)ttC>ttT		HAUS augmin-like complex, subunit 5							65	70	68					19																	36108227		1939	4131	6070	SO:0001819	synonymous_variant	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36108227C>T	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"HAUS augmin-like complex subunits"	29130	protein-coding gene	gene with protein product		613432	"KIAA0841"	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.594C>T	19.37:g.36108227C>T			Somatic				HAUS5_ENST00000379045.2_Silent_p.F198F	p.F198F	NM_015302.1	NP_056117.1	WXS	Illumina GAIIx	Phase_I	O94927	HAUS5_HUMAN			8	619	+			198					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Silent	SNP	ENST00000203166.5	37	c.594C>T	CCDS42550.1																																																																																				0.632	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			30	51	0	0	0	1	0	30	51					T	36108227	C	T	36108227	2	4	48	1	0	0	0	0	0	0	0	1	6978	854	30	3		3	HAUS5	19	36108227	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	70091	36108227	23020756	4031	8499										
HAUS5	23354	broad.mit.edu	37	chr19	36110954	36110954	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctcccatccatccaccagCtgcaccccgcgtccccaagg	6	22	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36110954C>A	ENST00000203166.5	+	16	1472	c.1447C>A	c.(1447-1449)Ctg>Atg	p.L483M	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	483					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)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CATCCACCAGCTGCACCCCGC	0.652																																						ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(1447-1449)Ctg>Atg		HAUS augmin-like complex, subunit 5							82	95	91					19																	36110954		2015	4159	6174	SO:0001583	missense	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36110954C>A	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"HAUS augmin-like complex subunits"	29130	protein-coding gene	gene with protein product		613432	"KIAA0841"	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1447C>A	19.37:g.36110954C>A	ENSP00000439056:p.Leu483Met		Somatic				HAUS5_ENST00000379045.2_3'UTR	p.L483M	NM_015302.1	NP_056117.1	WXS	Illumina GAIIx	Phase_I	O94927	HAUS5_HUMAN			16	1472	+			483					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	c.1447C>A	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887681	0.52014	.	.	ENSG00000249115	ENST00000203166	T	0.39592	1.07	4.81	4.81	0.61882	.	0.329988	0.25601	N	0.029558	T	0.59998	0.2235	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57148	-0.7861	10	0.38643	T	0.18	-7.8347	15.4156	0.74966	0.0:1.0:0.0:0.0	.	483	O94927	HAUS5_HUMAN	M	483	ENSP00000439056:L483M	ENSP00000439056:L483M	L	+	1	2	HAUS5	40802794	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	0.484000	0.22308	2.502000	0.84385	0.655000	0.94253	CTG		0.652	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			62	114	1	0	4.09171e-25	1	5.75624e-25	62	114					A	36110954	C	A	36110954	3	1	48	1	0	0	0	0	1	0	0	0	6978	796	28	5	1509	5	HAUS5	19	36110954	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2727	36110954	23018029	4032	8500										
ZBTB32	27033	broad.mit.edu	37	chr19	36205547	36205547	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caatgtccctgccccccataAgactgcccagcccctatggc	7	19	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36205547A>C	ENST00000392197.2	+	3	337	c.19A>C	c.(19-21)Aga>Cga	p.R7R	ZBTB32_ENST00000262630.3_Silent_p.R7R			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	7					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)			GCCCCCCATAAGACTGCCCAG	0.582																																						ENST00000392197.2																			0				large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14						c.(19-21)Aga>Cga		zinc finger and BTB domain containing 32							107	115	112					19																	36205547		2199	4297	6496	SO:0001819	synonymous_variant	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.chr19:36205547A>C	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.19A>C	19.37:g.36205547A>C			Somatic				ZBTB32_ENST00000262630.3_Silent_p.R7R	p.R7R			WXS	Illumina GAIIx	Phase_I	Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	337	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		7					Q8WVP2	Silent	SNP	ENST00000392197.2	37	c.19A>C	CCDS12471.1																																																																																				0.582	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		66	148	0	0	0	1	0	66	148					C	36205547	A	C	36205547	2	2	48	1	0	0	0	0	0	0	0	1	17550	64	3	4		4	ZBTB32	19	36205547	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	94593	36205547	22923436	4033	8501										
ARHGAP33	115703	broad.mit.edu	37	chr19	36273380	36273380	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctacttccgagagcttccGaaccctctgctcacctacca	5	18	3	1	rs138321382	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36273380G>A	ENST00000007510.4	+	13	1335	c.1191G>A	c.(1189-1191)ccG>ccA	p.P397P	ARHGAP33_ENST00000314737.5_Silent_p.P397P|ARHGAP33_ENST00000378944.5_Silent_p.P261P			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	397	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GAGAGCTTCCGAACCCTCTGC	0.607													G|||	2	0.000399361	8e-04	0	5008	,	,		20355	0		0.001	False		,,,				2504	0					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.(1189-1191)ccG>ccA		Rho GTPase activating protein 33			,	0,4406		0,0,2203	74	65	68		783,1191	-10.4	0.3	19	dbSNP_134	68	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	ARHGAP33	NM_001172630.1,NM_052948.3	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	261/1124,397/1127	36273380	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36273380G>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.1191G>A	19.37:g.36273380G>A			Somatic				ARHGAP33_ENST00000314737.5_Silent_p.P397P|ARHGAP33_ENST00000378944.5_Silent_p.P261P	p.P397P			WXS	Illumina GAIIx	Phase_I	O14559	RHG33_HUMAN			13	1335	+			397			Rho-GAP.		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.1191G>A																																																																																					0.607	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		28	37	0	0	0	1	0	28	37					A	36273380	G	A	36273380	2	1	48	1	0	0	0	0	0	0	0	1	882	1045	37	1		1	ARHGAP33	19	36273380	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	67833	36273380	22855603	4034	8502										
ZNF461	92283	broad.mit.edu	37	chr19	37130011	37130011	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccacattcatgacattcataAggtttcttgccagaatgaat	6	9	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:37130011A>C	ENST00000588268.1	-	6	1463	c.1236T>G	c.(1234-1236)ccT>ccG	p.P412P	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Silent_p.P389P	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GACATTCATAAGGTTTCTTGC	0.418																																						ENST00000588268.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29						c.(1234-1236)ccT>ccG		zinc finger protein 461							85	93	90					19																	37130011		2174	4285	6459	SO:0001819	synonymous_variant	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37130011A>C	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"Zinc fingers, C2H2-type", "-"	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1236T>G	19.37:g.37130011A>C			Somatic				ZNF461_ENST00000360357.4_Silent_p.P389P|ZNF461_ENST00000540605.2_5'UTR	p.P412P	NM_153257.2	NP_694989.2	WXS	Illumina GAIIx	Phase_I	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1463	-	Esophageal squamous(110;0.198)		412					A8K9W9|Q6VSF7|Q9ULZ8	Silent	SNP	ENST00000588268.1	37	c.1236T>G	CCDS54257.1																																																																																				0.418	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		32	59	0	0	0	1	0	32	59					C	37130011	A	C	37130011	2	2	48	1	0	0	0	0	0	0	0	1	17940	59	3	4		4	ZNF461	19	37130011	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	856631	37130011	21998972	4035	8503										
ZNF567	163081	broad.mit.edu	37	chr19	37210849	37210849	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttcaccagaaggcaaatcTtactgtacatcagagaactc	6	11	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:37210849T>G	ENST00000536254.2	+	6	1445	c.1223T>G	c.(1222-1224)cTt>cGt	p.L408R	ZNF567_ENST00000360729.4_Missense_Mutation_p.L377R|ZNF567_ENST00000392163.2_Missense_Mutation_p.L377R|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000585696.1_Missense_Mutation_p.L377R|ZNF567_ENST00000588311.1_Missense_Mutation_p.L377R			Q8N184	ZN567_HUMAN	zinc finger protein 567	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAGGCAAATCTTACTGTACAT	0.423																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1129-1131)cTt>cGt		zinc finger protein 567							58	63	61					19																	37210849		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210849T>G	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"Zinc fingers, C2H2-type", "-"	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1223T>G	19.37:g.37210849T>G	ENSP00000441838:p.Leu408Arg		Somatic				ZNF567_ENST00000360729.4_Missense_Mutation_p.L377R|ZNF567_ENST00000392163.2_Missense_Mutation_p.L377R|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.L377R|ZNF567_ENST00000536254.2_Missense_Mutation_p.L408R	p.L377R			WXS	Illumina GAIIx	Phase_I	Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2360	+	Esophageal squamous(110;0.198)		408					B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.1130T>G		.	.	.	.	.	.	.	.	.	.	T	18.21	3.574503	0.65878	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.53640	0.61;0.61;0.61	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	0.38837	N	0.001554	T	0.71617	0.3361	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.77245	-0.2659	10	0.87932	D	0	.	13.0296	0.58835	0.0:0.0:0.0:1.0	.	408;377	Q8N184;F8WEL6	ZN567_HUMAN;.	R	408;352;377;407;377	ENSP00000441838:L408R;ENSP00000353957:L377R;ENSP00000376003:L377R	ENSP00000353957:L377R	L	+	2	0	ZNF567	41902689	0.965000	0.33210	1.000000	0.80357	0.989000	0.77384	7.030000	0.76484	2.176000	0.68965	0.459000	0.35465	CTT		0.423	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		24	35	0	0	0	1	0	24	35					G	37210849	T	G	37210849	3	3	48	1	0	0	0	0	1	0	0	0	18013	1609	56	4	1140	4	ZNF567	19	37210849	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	80838	37210849	21918134	4036	8504										
ZNF420	147923	broad.mit.edu	37	chr19	37581896	37581896	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acattttgtttgttgtttcaGaaattagtgatgttcaggga	10	3	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:37581896G>T	ENST00000337995.3	+	4	224		c.e4-1		CTD-2293H3.1_ENST00000588369.1_RNA|ZNF420_ENST00000304239.7_Splice_Site	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420						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)			TGTTGTTTCAGAAATTAGTGA	0.353																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.e4-1		zinc finger protein 420							75	74	74					19																	37581896		2203	4300	6503	SO:0001630	splice_region_variant	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37581896G>T	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.10-1G>T	19.37:g.37581896G>T			Somatic				ZNF420_ENST00000304239.7_Splice_Site		NM_144689.3	NP_653290.2	WXS	Illumina GAIIx	Phase_I	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	224	+								B2RDY6|Q96ML5	Splice_Site	SNP	ENST00000337995.3	37		CCDS12498.1	.	.	.	.	.	.	.	.	.	.	G	8.800	0.932734	0.18131	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	.	.	.	4.46	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.30939	N	0.726039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4156	0.32670	0.1069:0.0:0.8931:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF420	42273736	0.983000	0.35010	0.274000	0.24659	0.460000	0.32559	4.566000	0.60843	1.110000	0.41699	0.591000	0.81541	.		0.353	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689	Intron	20	34	1	0	2.39187e-15	1	3.14903e-15	20	34					T	37581896	G	T	37581896	5	4	48	1	0	0	0	0	0	0	1	0	17912	956	33	2	15	2	ZNF420	19	37581896	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	371047	37581896	21547087	4037	8505										
ZNF585A	199704	broad.mit.edu	37	chr19	37644184	37644184	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttctctccggtatgaattCtctgatgcctgaagagggac	11	9	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:37644184C>A	ENST00000356958.4	-	5	875	c.617G>T	c.(616-618)aGa>aTa	p.R206I	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.R151I|ZNF585A_ENST00000392157.2_Missense_Mutation_p.R151I|ZNF585A_ENST00000355533.2_Missense_Mutation_p.R151I			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|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)			GGTATGAATTCTCTGATGCCT	0.388																																						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.(616-618)aGa>aTa		zinc finger protein 585A							100	95	97					19																	37644184		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37644184C>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.617G>T	19.37:g.37644184C>A	ENSP00000349440:p.Arg206Ile		Somatic				ZNF585A_ENST00000292841.5_Missense_Mutation_p.R151I|ZNF585A_ENST00000392157.2_Missense_Mutation_p.R151I|ZNF585A_ENST00000355533.2_Missense_Mutation_p.R151I|ZNF585A_ENST00000588723.1_Intron	p.R206I			WXS	Illumina GAIIx	Phase_I	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	875	-			206					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.617G>T		.	.	.	.	.	.	.	.	.	.	C	12.00	1.807843	0.31961	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	2.88	2.88	0.33553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40818	N	0.001015	T	0.48314	0.1493	M	0.73962	2.25	0.47949	D	0.999553	D	0.89917	1.0	D	0.81914	0.995	T	0.53556	-0.8422	10	0.54805	T	0.06	.	12.9538	0.58415	0.0:1.0:0.0:0.0	.	206	Q6P3V2	Z585A_HUMAN	I	206;151;151;151	ENSP00000349440:R206I;ENSP00000292841:R151I;ENSP00000375998:R151I;ENSP00000347724:R151I	ENSP00000292841:R151I	R	-	2	0	ZNF585A	42336024	0.000000	0.05858	0.988000	0.46212	0.141000	0.21300	0.567000	0.23608	1.612000	0.50221	0.561000	0.74099	AGA		0.388	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		23	54	1	0	5.26018e-13	1	6.70247e-13	23	54					A	37644184	C	A	37644184	3	1	48	1	0	0	0	0	1	0	0	0	18032	913	32	2	1696	2	ZNF585A	19	37644184	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	62288	37644184	21484799	4038	8506										
ZNF793	390927	broad.mit.edu	37	chr19	38027836	38027836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatatccagaggaaaagacgGcaagacatgcttttgaggcc	11	8	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38027836G>A	ENST00000587143.1	+	6	511	c.276G>A	c.(274-276)cgG>cgA	p.R92R	ZNF793_ENST00000445217.1_Silent_p.R92R|ZNF793_ENST00000589319.1_Silent_p.R92R|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Silent_p.R92R			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAAAAGACGGCAAGACATGC	0.393																																					Melanoma(44;400 1431 1499 19093)	ENST00000445217.1																			0				kidney(2)|lung(1)	3						c.(274-276)cgG>cgA		zinc finger protein 793							41	44	43					19																	38027836		1866	4099	5965	SO:0001819	synonymous_variant	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38027836G>A	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"Zinc fingers, C2H2-type", "-"	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.276G>A	19.37:g.38027836G>A			Somatic				ZNF793_ENST00000587143.1_Silent_p.R92R|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Silent_p.R92R|ZNF793_ENST00000589319.1_Silent_p.R92R	p.R92R			WXS	Illumina GAIIx	Phase_I	Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	311	+			92					E9PGN4|Q7Z3Q9	Silent	SNP	ENST00000587143.1	37	c.276G>A	CCDS46062.1																																																																																				0.393	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		10	13	0	0	0	1	0	10	13					A	38027836	G	A	38027836	2	1	48	1	0	0	0	0	0	0	0	1	18180	1190	42	3		3	ZNF793	19	38027836	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	383652	38027836	21101147	4039	8507										
ZNF571	51276	broad.mit.edu	37	chr19	38056098	38056098	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcttctctccggtatgaattCtttgatgttgaataagatta	8	6	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38056098C>A	ENST00000328550.2	-	4	1331	c.1232G>T	c.(1231-1233)aGa>aTa	p.R411I	ZNF571_ENST00000593133.1_Missense_Mutation_p.R411I|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.R411I|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.R411I|ZNF571-AS1_ENST00000586139.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	411					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)			GGTATGAATTCTTTGATGTTG	0.373																																						ENST00000328550.2																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1231-1233)aGa>aTa		zinc finger protein 571							35	39	38					19																	38056098		2203	4299	6502	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056098C>A	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.1232G>T	19.37:g.38056098C>A	ENSP00000333660:p.Arg411Ile		Somatic				ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.R411I|ZNF571_ENST00000451802.2_Missense_Mutation_p.R411I|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.R411I|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA	p.R411I			WXS	Illumina GAIIx	Phase_I	Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1331	-			411					Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.1232G>T	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094150	0.36952	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.24908	1.83;1.83;1.83	3.47	-0.315	0.12746	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23289	0.0563	L	0.42487	1.325	0.26162	N	0.979985	P	0.48230	0.907	P	0.47102	0.537	T	0.15896	-1.0421	9	0.72032	D	0.01	.	4.1287	0.10139	0.0:0.5057:0.1742:0.32	.	411	Q7Z3V5	ZN571_HUMAN	I	411	ENSP00000333660:R411I;ENSP00000392638:R411I;ENSP00000351594:R411I	ENSP00000333660:R411I	R	-	2	0	ZNF571	42747938	0.000000	0.05858	0.627000	0.29227	0.588000	0.36517	0.100000	0.15231	0.170000	0.19704	0.305000	0.20034	AGA		0.373	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		13	17	1	0	7.93312e-07	1	8.98086e-07	13	17					A	38056098	C	A	38056098	3	1	48	1	0	0	0	0	1	0	0	0	18018	913	32	2	601	2	ZNF571	19	38056098	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	28262	38056098	21072885	4040	8508										
ZNF781	163115	broad.mit.edu	37	chr19	38160724	38160724	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttctcaccagtatgaattCtttgatgtcgaataagatgt	8	6	2	3	rs138038465		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38160724C>A	ENST00000590008.1	-	5	1178	c.326G>T	c.(325-327)aGa>aTa	p.R109I	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Missense_Mutation_p.R109I|ZNF781_ENST00000593040.1_5'Flank			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AGTATGAATTCTTTGATGTCG	0.373																																						ENST00000358582.4																			0				NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(325-327)aGa>aTa		zinc finger protein 781		C	ILE/ARG	0,4406		0,0,2203	120	118	119		326	1.1	0.4	19	dbSNP_134	119	3,8597	3.0+/-9.4	0,3,4297	no	missense	ZNF781	NM_152605.3	97	0,3,6500	AA,AC,CC		0.0349,0.0,0.0231	probably-damaging	109/328	38160724	3,13003	2203	4300	6503	SO:0001583	missense	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160724C>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.326G>T	19.37:g.38160724C>A	ENSP00000466370:p.Arg109Ile		Somatic				ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Missense_Mutation_p.R109I	p.R109I	NM_152605.3	NP_689818.2	WXS	Illumina GAIIx	Phase_I	Q8N8C0	ZN781_HUMAN			4	1074	-			109					Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	c.326G>T	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720568	0.48728	0.0	3.49E-4	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.24908	1.83	2.23	1.08	0.20341	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30634	0.0771	M	0.64260	1.97	0.39846	D	0.973178	P	0.39326	0.668	P	0.45167	0.472	T	0.14282	-1.0478	9	0.66056	D	0.02	.	8.7436	0.34571	0.2293:0.7707:0.0:0.0	.	109	Q8N8C0	ZN781_HUMAN	I	109	ENSP00000351391:R109I	ENSP00000351391:R109I	R	-	2	0	ZNF781	42852564	0.000000	0.05858	0.382000	0.26119	0.006000	0.05464	0.333000	0.19768	0.218000	0.20820	-0.399000	0.06403	AGA		0.373	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		30	61	1	0	1.68575e-08	1	1.99097e-08	30	61					A	38160724	C	A	38160724	3	1	48	1	0	0	0	0	1	0	0	0	18169	913	32	2	661	2	ZNF781	19	38160724	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	104626	38160724	20968259	4041	8509										
KCNK6	9424	broad.mit.edu	37	chr19	38817882	38817882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaccttccgccacgtgtccGacctccacggcctcacggag	10	18	1	1	rs558034240		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38817882G>A	ENST00000263372.3	+	3	888	c.781G>A	c.(781-783)Gac>Aac	p.D261N		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	261					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)			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)	CCACGTGTCCGACCTCCACGG	0.657													G|||	1	0.000199681	8e-04	0	5008	,	,		18146	0		0	False		,,,				2504	0					ENST00000263372.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.(781-783)Gac>Aac		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						75	59	64					19																	38817882		2203	4300	6503	SO:0001583	missense	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38817882G>A	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.781G>A	19.37:g.38817882G>A	ENSP00000263372:p.Asp261Asn		Somatic					p.D261N	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)		3	888	+	all_cancers(60;5.83e-07)		261					Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	c.781G>A	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955560	0.92726	.	.	ENSG00000099337	ENST00000263372	T	0.22945	1.93	5.28	5.28	0.74379	.	0.048525	0.85682	D	0.000000	T	0.43277	0.1240	L	0.46741	1.465	0.53688	D	0.999971	D	0.71674	0.998	D	0.67725	0.953	T	0.12400	-1.0549	10	0.41790	T	0.15	.	16.4062	0.83670	0.0:0.0:1.0:0.0	.	261	Q9Y257	KCNK6_HUMAN	N	261	ENSP00000263372:D261N	ENSP00000263372:D261N	D	+	1	0	KCNK6	43509722	1.000000	0.71417	0.931000	0.37212	0.610000	0.37248	3.472000	0.53114	2.490000	0.84030	0.561000	0.74099	GAC		0.657	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		19	56	0	0	0	1	0	19	56					A	38817882	G	A	38817882	3	1	48	1	0	0	0	0	1	0	0	0	8079	1058	37	1	791	1	KCNK6	19	38817882	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	657158	38817882	20311101	4042	8510										
RYR1	6261	broad.mit.edu	37	chr19	38985162	38985162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaccatctcaccgtcctccGtggaagacaccatgagcctg	8	16	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38985162G>A	ENST00000359596.3	+	39	6445	c.6445G>A	c.(6445-6447)Gtg>Atg	p.V2149M	RYR1_ENST00000355481.4_Missense_Mutation_p.V2149M|RYR1_ENST00000360985.3_Missense_Mutation_p.V2149M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2149	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACCGTCCTCCGTGGAAGACAC	0.657																																						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.(6445-6447)Gtg>Atg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						68	62	64					19																	38985162		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.chr19:38985162G>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.6445G>A	19.37:g.38985162G>A	ENSP00000352608:p.Val2149Met		Somatic				RYR1_ENST00000360985.3_Missense_Mutation_p.V2149M|RYR1_ENST00000359596.3_Missense_Mutation_p.V2149M	p.V2149M	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)		39	6576	+	all_cancers(60;7.91e-06)		2149			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.6445G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640367	0.29157	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97114	-4.25;-4.25;-4.25	4.63	0.963	0.19649	.	0.301825	0.25514	U	0.030145	D	0.94225	0.8146	M	0.63428	1.95	0.38861	D	0.956483	B;B	0.30033	0.266;0.174	B;B	0.26517	0.07;0.032	D	0.89559	0.3805	10	0.51188	T	0.08	.	8.2214	0.31543	0.1089:0.1429:0.7482:0.0	.	2149;2149	P21817-2;P21817	.;RYR1_HUMAN	M	2149	ENSP00000352608:V2149M;ENSP00000347667:V2149M;ENSP00000354254:V2149M	ENSP00000347667:V2149M	V	+	1	0	RYR1	43677002	1.000000	0.71417	0.238000	0.24106	0.144000	0.21451	3.263000	0.51546	0.048000	0.15891	0.305000	0.20034	GTG		0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			26	39	0	0	0	1	0	26	39					A	38985162	G	A	38985162	3	1	48	1	0	0	0	0	1	0	0	0	13783	1145	40	1	6599	1	RYR1	19	38985162	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	167280	38985162	20143821	4043	8511										
RYR1	6261	broad.mit.edu	37	chr19	38990408	38990408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagaggccatccgcatctcCgaggaccctgcgagggatgg	15	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38990408C>T	ENST00000359596.3	+	44	7161	c.7161C>T	c.(7159-7161)tcC>tcT	p.S2387S	RYR1_ENST00000355481.4_Silent_p.S2387S|RYR1_ENST00000360985.3_Silent_p.S2387S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2387	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCCGCATCTCCGAGGACCCTG	0.706																																						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.(7159-7161)tcC>tcT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						25	23	24					19																	38990408		2202	4297	6499	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.chr19:38990408C>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.7161C>T	19.37:g.38990408C>T			Somatic				RYR1_ENST00000360985.3_Silent_p.S2387S|RYR1_ENST00000359596.3_Silent_p.S2387S	p.S2387S	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)		44	7292	+	all_cancers(60;7.91e-06)		2387			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.7161C>T	CCDS33011.1																																																																																				0.706	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			9	21	0	0	0	1	0	9	21					T	38990408	C	T	38990408	2	4	48	1	0	0	0	0	0	0	0	1	13783	639	23	1		1	RYR1	19	38990408	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5246	38990408	20138575	4044	8512										
SIRT2	22933	broad.mit.edu	37	chr19	39384111	39384111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtcagctcgtccagcagacGctccttctggctgcccaggc	12	16	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:39384111G>A	ENST00000249396.7	-	4	470	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	SIRT2_ENST00000358931.5_Missense_Mutation_p.R57C|SIRT2_ENST00000392081.2_Missense_Mutation_p.R20C	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	57					autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			TCCAGCAGACGCTCCTTCTGG	0.617																																						ENST00000249396.7																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(169-171)Cgt>Tgt		sirtuin 2							48	41	44					19																	39384111		2203	4300	6503	SO:0001583	missense	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39384111G>A	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2", "sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.169C>T	19.37:g.39384111G>A	ENSP00000249396:p.Arg57Cys		Somatic				SIRT2_ENST00000358931.5_Missense_Mutation_p.R57C|SIRT2_ENST00000392081.2_Missense_Mutation_p.R20C	p.R57C	NM_012237.3	NP_036369.2	WXS	Illumina GAIIx	Phase_I	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		4	470	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		57					A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Missense_Mutation	SNP	ENST00000249396.7	37	c.169C>T	CCDS12523.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796686	0.70567	.	.	ENSG00000068903	ENST00000249396;ENST00000392081;ENST00000358931;ENST00000456703;ENST00000414941;ENST00000407552;ENST00000381766;ENST00000437828;ENST00000447739	T;T;T;T;T;T	0.47869	1.41;1.42;0.83;0.83;0.86;0.83	4.26	3.08	0.35506	.	0.150970	0.40144	N	0.001176	T	0.43722	0.1260	L	0.31926	0.97	0.45634	D	0.998561	D;D;P;D	0.89917	0.999;0.998;0.657;1.0	P;P;B;P	0.53988	0.729;0.605;0.013;0.739	T	0.41910	-0.9482	10	0.87932	D	0	-7.4151	6.0612	0.19839	0.0:0.1546:0.5212:0.3242	.	57;20;57;37	Q8IXJ6-4;Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3	.;.;SIRT2_HUMAN;.	C	57;20;57;42;20;20;20;20;20	ENSP00000249396:R57C;ENSP00000375931:R20C;ENSP00000351809:R57C;ENSP00000404309:R20C;ENSP00000385146:R20C;ENSP00000401203:R20C	ENSP00000249396:R57C	R	-	1	0	SIRT2	44075951	0.992000	0.36948	1.000000	0.80357	0.943000	0.58893	2.298000	0.43602	2.027000	0.59764	0.462000	0.41574	CGT		0.617	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			13	16	0	0	0	1	0	13	16					A	39384111	G	A	39384111	3	1	48	1	0	0	0	0	1	0	0	0	14353	1087	38	1	1052	1	SIRT2	19	39384111	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	393703	39384111	19744872	4045	8513										
FBXO27	126433	broad.mit.edu	37	chr19	39517572	39517572	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacagcagagaatttatctaGaacagtctggttggcgtcta	10	8	3	2	rs375252138		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:39517572G>T	ENST00000292853.4	-	5	765	c.646C>A	c.(646-648)Cta>Ata	p.L216I	FBXO27_ENST00000600828.1_Missense_Mutation_p.L215I|FBXO27_ENST00000509137.2_Missense_Mutation_p.L216I	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	216	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AATTTATCTAGAACAGTCTGG	0.557																																						ENST00000292853.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17						c.(646-648)Cta>Ata		F-box protein 27							186	174	178					19																	39517572		2203	4300	6503	SO:0001583	missense	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39517572G>T	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"F-boxes /  "other""	18753	protein-coding gene	gene with protein product		609099	"F-box only protein 27"			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.646C>A	19.37:g.39517572G>T	ENSP00000292853:p.Leu216Ile		Somatic				FBXO27_ENST00000509137.2_Missense_Mutation_p.L216I|FBXO27_ENST00000600828.1_Missense_Mutation_p.L215I	p.L216I	NM_178820.3	NP_849142.1	WXS	Illumina GAIIx	Phase_I	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		5	765	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		216			FBA.		Q96C87	Missense_Mutation	SNP	ENST00000292853.4	37	c.646C>A	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391999	0.25118	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.34667	1.35;1.35	4.06	2.99	0.34606	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.572512	0.14399	N	0.322060	T	0.16128	0.0388	N	0.04705	-0.18	0.09310	N	1	B	0.28552	0.215	B	0.32624	0.149	T	0.29058	-1.0024	10	0.05959	T	0.93	-4.7758	8.7294	0.34489	0.0:0.0:0.7627:0.2373	.	216	Q8NI29	FBX27_HUMAN	I	216	ENSP00000292853:L216I;ENSP00000437662:L216I	ENSP00000292853:L216I	L	-	1	2	FBXO27	44209412	0.244000	0.23889	0.008000	0.14137	0.268000	0.26511	0.947000	0.29082	0.982000	0.38575	0.491000	0.48974	CTA		0.557	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			52	122	1	0	9.40368e-32	1	1.3465e-31	52	122					T	39517572	G	T	39517572	3	4	48	1	0	0	0	0	1	0	0	0	5745	933	33	2	213	2	FBXO27	19	39517572	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	133461	39517572	19611411	4046	8514										
IL28B	282617	broad.mit.edu	37	chr19	39735436	39735436	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggggagactcactaaggcatCtttggccctcttaaaggcct	11	11	3	1	rs371708541		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:39735436C>A	ENST00000413851.2	-	1	210	c.172G>T	c.(172-174)Gat>Tat	p.D58Y	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	58					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											ACTAAGGCATCTTTGGCCCTC	0.627																																						ENST00000413851.2																			0											c.(172-174)Gat>Tat		interferon, lambda 3							20	23	22					19																	39735436		2202	4291	6493	SO:0001583	missense	282617							g.chr19:39735436C>A	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"Interferons"	18365	protein-coding gene	gene with protein product		607402	"interleukin 28B", "interleukin 28B (interferon, lambda 3)"	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.172G>T	19.37:g.39735436C>A	ENSP00000409000:p.Asp58Tyr		Somatic					p.D58Y	NM_172139.2	NP_742151.2	WXS	Illumina GAIIx	Phase_I					1	210	-								A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.172G>T	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098773	0.37048	.	.	ENSG00000197110	ENST00000413851	T	0.40756	1.02	2.97	2.97	0.34412	.	0.353403	0.23834	N	0.044115	T	0.62938	0.2469	M	0.85542	2.76	0.18873	N	0.999989	D	0.76494	0.999	D	0.69654	0.965	T	0.53844	-0.8381	10	0.87932	D	0	-0.7969	9.5565	0.39341	0.0:1.0:0.0:0.0	.	58	Q8IZI9	IL28B_HUMAN	Y	58	ENSP00000409000:D58Y	ENSP00000409000:D58Y	D	-	1	0	IL28B	44427276	0.097000	0.21791	0.050000	0.19076	0.679000	0.39708	2.161000	0.42358	1.697000	0.51169	0.194000	0.17425	GAT		0.627	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		19	26	1	0	3.99206e-14	1	5.17458e-14	19	26					A	39735436	C	A	39735436	3	1	48	1	0	0	0	0	1	0	0	0	7692	913	32	2	437	2	IL28B	19	39735436	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	217864	39735436	19393547	4047	8515										
DYRK1B	9149	broad.mit.edu	37	chr19	40318227	40318227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagggaccacatgtcaatggCcaggtcgtagggtgtgccca	14	11	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40318227C>T	ENST00000593685.1	-	7	1345	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	DYRK1B_ENST00000597639.1_Missense_Mutation_p.A293T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A293T|DYRK1B_ENST00000430012.2_Missense_Mutation_p.A293T|DYRK1B_ENST00000323039.5_Missense_Mutation_p.A293T			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			ATGTCAATGGCCAGGTCGTAG	0.592																																						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.(877-879)Gcc>Acc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							73	66	69					19																	40318227		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.chr19:40318227C>T	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.877G>A	19.37:g.40318227C>T	ENSP00000469863:p.Ala293Thr		Somatic				DYRK1B_ENST00000430012.2_Missense_Mutation_p.A293T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A293T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A293T|DYRK1B_ENST00000323039.5_Missense_Mutation_p.A293T	p.A293T			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)		7	1345	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		293			Protein kinase.		O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.877G>A	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029236	0.93518	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.22743	1.94;1.94;1.94	4.69	4.69	0.59074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061131	0.64402	D	0.000004	T	0.47783	0.1464	M	0.80616	2.505	0.80722	D	1	D;D;D	0.67145	0.991;0.996;0.991	D;D;D	0.68483	0.958;0.948;0.958	T	0.54417	-0.8297	10	0.72032	D	0.01	.	15.0985	0.72253	0.0:1.0:0.0:0.0	.	293;293;293	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	T	293	ENSP00000312789:A293T;ENSP00000221803:A293T;ENSP00000403182:A293T	ENSP00000312789:A293T	A	-	1	0	DYRK1B	45010067	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.787000	0.85759	2.151000	0.67156	0.455000	0.32223	GCC		0.592	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		20	62	0	0	0	1	0	20	62					T	40318227	C	T	40318227	3	4	48	1	0	0	0	0	1	0	0	0	4857	739	26	3	1032	3	DYRK1B	19	40318227	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	582791	40318227	18810756	4048	8516										
FCGBP	8857	broad.mit.edu	37	chr19	40363943	40363943	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatctccagctgcattcttcTcaagcacgatggaaaagtcc	8	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40363943T>C	ENST00000221347.6	-	31	14706	c.14699A>G	c.(14698-14700)gAg>gGg	p.E4900G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4900	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)			TGCATTCTTCTCAAGCACGAT	0.587																																						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.(14698-14700)gAg>gGg		Fc fragment of IgG binding protein							99	81	87					19																	40363943		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40363943T>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14699A>G	19.37:g.40363943T>C	ENSP00000221347:p.Glu4900Gly		Somatic					p.E4900G	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)		31	14706	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4900			VWFD 12.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.14699A>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.931320	0.34096	.	.	ENSG00000090920	ENST00000221347	T	0.59502	0.26	5.04	5.04	0.67666	von Willebrand factor, type D domain (3);	0.144122	0.45126	U	0.000395	T	0.69637	0.3133	M	0.67953	2.075	0.30575	N	0.763093	D	0.89917	1.0	D	0.97110	1.0	T	0.69409	-0.5153	10	0.39692	T	0.17	.	7.8154	0.29256	0.0:0.0945:0.0:0.9055	.	4900	Q9Y6R7	FCGBP_HUMAN	G	4900	ENSP00000221347:E4900G	ENSP00000221347:E4900G	E	-	2	0	FCGBP	45055783	0.955000	0.32602	0.973000	0.42090	0.050000	0.14768	2.294000	0.43567	2.038000	0.60285	0.260000	0.18958	GAG		0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		31	53	0	0	0	1	0	31	53					C	40363943	T	C	40363943	3	2	48	1	0	0	0	0	1	0	0	0	5786	1551	54	4	1542	4	FCGBP	19	40363943	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	45716	40363943	18765040	4049	8517										
ZNF546	339327	broad.mit.edu	37	chr19	40514459	40514459	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtaatgagggaagggacaagGaattggttcacaggtgagtg	17	3	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40514459G>A	ENST00000347077.4	+	6	597	c.381G>A	c.(379-381)agG>agA	p.R127R	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.R101R	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	127	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)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGGGACAAGGAATTGGTTCA	0.463																																						ENST00000347077.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(379-381)agG>agA		zinc finger protein 546							134	136	135					19																	40514459		2203	4300	6503	SO:0001819	synonymous_variant	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40514459G>A	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.381G>A	19.37:g.40514459G>A			Somatic				ZNF546_ENST00000600094.1_Silent_p.R101R|ZNF546_ENST00000596894.1_Intron	p.R127R	NM_178544.3	NP_848639.2	WXS	Illumina GAIIx	Phase_I	Q86UE3	ZN546_HUMAN			6	597	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		127			KRAB.		A8K913	Silent	SNP	ENST00000347077.4	37	c.381G>A	CCDS12548.1																																																																																				0.463	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		29	52	0	0	0	1	0	29	52					A	40514459	G	A	40514459	2	1	48	1	0	0	0	0	0	0	0	1	17993	1165	41	3		3	ZNF546	19	40514459	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	150516	40514459	18614524	4050	8518										
ZNF780B	163131	broad.mit.edu	37	chr19	40542471	40542471	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttataacatgtttgggtaAatttatttcaaaaatatcat	4	4	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40542471A>C	ENST00000434248.1	-	5	360	c.295T>G	c.(295-297)Tta>Gta	p.L99V	ZNF780B_ENST00000221355.6_De_novo_Start_OutOfFrame|ZNF780B_ENST00000598845.1_3'UTR	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	99					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTTTGGGTAAATTTATTTCA	0.313																																						ENST00000221355.6																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23								zinc finger protein 780B							29	27	28					19																	40542471		1929	4145	6074	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40542471A>C	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"Zinc fingers, C2H2-type", "-"	33109	protein-coding gene	gene with protein product			"zinc finger protein 779"	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.295T>G	19.37:g.40542471A>C	ENSP00000391641:p.Leu99Val		Somatic				ZNF780B_ENST00000434248.1_Missense_Mutation_p.L99V|ZNF780B_ENST00000598845.1_3'UTR				WXS	Illumina GAIIx	Phase_I	Q9Y6R6	Z780B_HUMAN			0	552	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)							B9EH00	Translation_Start_Site	SNP	ENST00000434248.1	37		CCDS46077.1	.	.	.	.	.	.	.	.	.	.	A	6.535	0.467029	0.12402	.	.	ENSG00000128000	ENST00000434248	T	0.05447	3.44	2.44	1.35	0.21983	.	.	.	.	.	T	0.11196	0.0273	L	0.39898	1.24	0.22796	N	0.998729	D	0.63880	0.993	D	0.70016	0.967	T	0.23084	-1.0198	9	0.11182	T	0.66	.	5.8114	0.18467	0.7644:0.0:0.0:0.2356	.	99	Q9Y6R6	Z780B_HUMAN	V	99	ENSP00000391641:L99V	ENSP00000391641:L99V	L	-	1	2	ZNF780B	45234311	0.005000	0.15991	0.071000	0.20095	0.200000	0.23975	1.095000	0.30964	0.056000	0.16144	0.260000	0.18958	TTA		0.313	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		6	8	0	0	0	1	0	6	8					C	40542471	A	C	40542471	3	2	48	1	0	0	0	0	1	0	0	0	18168	11	1	4	2210	4	ZNF780B	19	40542471	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	28012	40542471	18586512	4051	8519										
MAP3K10	4294	broad.mit.edu	37	chr19	40719431	40719431	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctccggttgcagaggagttCgcggaggcagaggatggagg	19	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40719431C>T	ENST00000253055.3	+	9	2133	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	615					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CAGAGGAGTTCGCGGAGGCAG	0.706																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(1843-1845)ttC>ttT		mitogen-activated protein kinase kinase kinase 10							15	16	16					19																	40719431		2200	4294	6494	SO:0001819	synonymous_variant	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40719431C>T	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1845C>T	19.37:g.40719431C>T			Somatic					p.F615F	NM_002446.3	NP_002437.2	WXS	Illumina GAIIx	Phase_I	Q02779	M3K10_HUMAN			9	2133	+			615					Q12761|Q14871	Silent	SNP	ENST00000253055.3	37	c.1845C>T	CCDS12549.1																																																																																				0.706	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		15	17	0	0	0	1	0	15	17					T	40719431	C	T	40719431	2	4	48	1	0	0	0	0	0	0	0	1	9253	883	31	1		1	MAP3K10	19	40719431	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	176960	40719431	18409552	4052	8520										
CYP2A7	1549	broad.mit.edu	37	chr19	41386003	41386003	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agttacctgccccgtggaggTtgacgtgaactggaagattc	13	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:41386003T>C	ENST00000301146.4	-	4	1181	c.640A>G	c.(640-642)Acc>Gcc	p.T214A	CYP2A7_ENST00000291764.3_Missense_Mutation_p.T163A|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	214						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)			CCCGTGGAGGTTGACGTGAAC	0.572																																						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.(640-642)Acc>Gcc		cytochrome P450, family 2, subfamily A, polypeptide 7							107	92	97					19																	41386003		2203	4299	6502	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41386003T>C	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.640A>G	19.37:g.41386003T>C	ENSP00000301146:p.Thr214Ala		Somatic				CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.T163A	p.T214A	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)		4	1181	-			214					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.640A>G	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	t	10.36	1.329942	0.24167	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.68331	-0.32;-0.32	2.16	-4.32	0.03688	.	0.255650	0.36893	U	0.002345	T	0.44329	0.1288	N	0.21324	0.655	0.09310	N	1	P;P;B	0.40553	0.502;0.721;0.182	B;B;B	0.42030	0.302;0.373;0.221	T	0.46512	-0.9186	10	0.72032	D	0.01	.	3.4742	0.07578	0.3127:0.1167:0.0:0.5706	.	214;163;214	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	A	214;163	ENSP00000301146:T214A;ENSP00000291764:T163A	ENSP00000291764:T163A	T	-	1	0	CYP2A7	46077843	0.000000	0.05858	0.000000	0.03702	0.088000	0.18126	-0.117000	0.10708	-1.141000	0.02873	-1.522000	0.00932	ACC		0.572	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		37	70	0	0	0	1	0	37	70					C	41386003	T	C	41386003	3	2	48	1	0	0	0	0	1	0	0	0	4165	1725	60	4	868	4	CYP2A7	19	41386003	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	666572	41386003	17742980	4053	8521										
ATP5SL	55101	broad.mit.edu	37	chr19	41944166	41944166	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catctccctttggagcaagtAatccctcagagcctccacat	6	15	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:41944166A>G	ENST00000221943.9	-	2	177	c.172T>C	c.(172-174)Tac>Cac	p.Y58H	ATP5SL_ENST00000589970.1_Missense_Mutation_p.Y58H|ATP5SL_ENST00000301183.11_Missense_Mutation_p.Y64H|ATP5SL_ENST00000592922.2_Missense_Mutation_p.Y58H|ATP5SL_ENST00000597457.1_Missense_Mutation_p.Y58H|ATP5SL_ENST00000417807.3_Missense_Mutation_p.Y64H|ATP5SL_ENST00000590641.2_Missense_Mutation_p.Y64H|ATP5SL_ENST00000438807.3_Missense_Mutation_p.Y58H|ATP5SL_ENST00000595425.1_Missense_Mutation_p.Y58H	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	58						mitochondrion (GO:0005739)				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						TGGAGCAAGTAATCCCTCAGA	0.537																																						ENST00000221943.9																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						c.(172-174)Tac>Cac		ATP5S-like							193	169	178					19																	41944166		2203	4300	6503	SO:0001583	missense	55101							g.chr19:41944166A>G	AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.172T>C	19.37:g.41944166A>G	ENSP00000221943:p.Tyr58His		Somatic				ATP5SL_ENST00000592922.2_Missense_Mutation_p.Y58H|ATP5SL_ENST00000590641.2_Missense_Mutation_p.Y64H|ATP5SL_ENST00000589970.1_Missense_Mutation_p.Y58H|ATP5SL_ENST00000438807.3_Missense_Mutation_p.Y58H|ATP5SL_ENST00000417807.3_Missense_Mutation_p.Y64H|ATP5SL_ENST00000597457.1_Missense_Mutation_p.Y58H|ATP5SL_ENST00000595425.1_Missense_Mutation_p.Y58H|ATP5SL_ENST00000301183.11_Missense_Mutation_p.Y64H	p.Y58H	NM_018035.2	NP_060505.2	WXS	Illumina GAIIx	Phase_I	Q9NW81	AT5SL_HUMAN			2	177	-			58					B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Missense_Mutation	SNP	ENST00000221943.9	37	c.172T>C	CCDS33032.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.060300	0.36373	.	.	ENSG00000105341	ENST00000221943;ENST00000438807;ENST00000417807;ENST00000301183;ENST00000507129	T;T;T;T	0.35048	2.97;1.33;2.95;1.77	3.31	1.21	0.21127	.	0.283609	0.30565	N	0.009350	T	0.48352	0.1495	M	0.75447	2.3	0.09310	N	1	D;B;B;B;D;D;D	0.60575	0.985;0.185;0.185;0.185;0.958;0.966;0.988	P;B;B;B;P;P;P	0.60886	0.838;0.073;0.073;0.073;0.66;0.807;0.88	T	0.33752	-0.9856	10	0.59425	D	0.04	-9.3083	4.9898	0.14209	0.7389:0.0:0.2611:0.0	.	64;64;58;58;58;58;64	B4DFT4;B4DDC0;Q9NW81-2;B4DMZ4;E9PDC6;Q9NW81;F5H4W7	.;.;.;.;.;AT5SL_HUMAN;.	H	58;58;64;64;134	ENSP00000221943:Y58H;ENSP00000397413:Y58H;ENSP00000403910:Y64H;ENSP00000301183:Y64H	ENSP00000221943:Y58H	Y	-	1	0	ATP5SL	46636006	0.019000	0.18553	0.050000	0.19076	0.012000	0.07955	1.039000	0.30266	0.180000	0.19960	0.459000	0.35465	TAC		0.537	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460602.1	NM_018035		4	122	0	0	0	1	0	4	122					G	41944166	A	G	41944166	3	3	48	1	0	0	0	0	1	0	0	0	1164	362	13	4	621	4	ATP5SL	19	41944166	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	558163	41944166	17184817	4054	8522										
DMRTC2	63946	broad.mit.edu	37	chr19	42352862	42352862	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtgccctctgcccctgcaGaactcctgtgggcctctgct	10	17	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:42352862G>T	ENST00000269945.3	+	5	498		c.e5-1		DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Splice_Site	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2						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						TGCCCCTGCAGAACTCCTGTG	0.622																																						ENST00000269945.3																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.e5-1		DMRT-like family C2							84	96	92					19																	42352862		2203	4300	6503	SO:0001630	splice_region_variant	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42352862G>T	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.448-1G>T	19.37:g.42352862G>T			Somatic				DMRTC2_ENST00000596827.1_Splice_Site|DMRTC2_ENST00000602098.1_3'UTR		NM_001040283.1	NP_001035373.1	WXS	Illumina GAIIx	Phase_I	Q8IXT2	DMRTD_HUMAN			5	498	+								Q8N6Q2|Q96M39|Q96SD4	Splice_Site	SNP	ENST00000269945.3	37		CCDS33034.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408165	0.42715	.	.	ENSG00000142025	ENST00000269945	.	.	.	4.88	1.4	0.22301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.7877	0.08707	0.0951:0.1572:0.5684:0.1793	.	.	.	.	.	-1	.	.	.	+	.	.	DMRTC2	47044702	0.996000	0.38824	0.998000	0.56505	0.902000	0.53008	0.937000	0.28951	0.537000	0.28751	0.561000	0.74099	.		0.622	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283	Intron	64	119	1	0	1.25706e-45	1	1.82083e-45	64	119					T	42352862	G	T	42352862	5	4	48	1	0	0	0	0	0	0	1	0	4593	956	33	2	461	2	DMRTC2	19	42352862	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	408696	42352862	16776121	4055	8523										
ATP1A3	478	broad.mit.edu	37	chr19	42485761	42485761	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgcacttgagcagggcagActcagacgcatccccagcca	11	14	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:42485761A>G	ENST00000302102.5	-	11	1480	c.1330T>C	c.(1330-1332)Tct>Cct	p.S444P	ATP1A3_ENST00000543770.1_Missense_Mutation_p.S455P|ATP1A3_ENST00000545399.1_Missense_Mutation_p.S457P|ATP1A3_ENST00000602133.1_Missense_Mutation_p.S414P	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	444					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)			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						AGCAGGGCAGACTCAGACGCA	0.572																																						ENST00000545399.1																			0				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.(1369-1371)Tct>Cct		ATPase, Na+/K+ transporting, alpha 3 polypeptide							91	72	79					19																	42485761		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.chr19:42485761A>G		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.1330T>C	19.37:g.42485761A>G	ENSP00000302397:p.Ser444Pro		Somatic				ATP1A3_ENST00000543770.1_Missense_Mutation_p.S455P|ATP1A3_ENST00000302102.5_Missense_Mutation_p.S444P|ATP1A3_ENST00000602133.1_Missense_Mutation_p.S414P	p.S457P	NM_001256214.1	NP_001243143.1	WXS	Illumina GAIIx	Phase_I	P13637	AT1A3_HUMAN			11	1522	-			444					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.1369T>C	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.182068	0.78677	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92	3.87	3.87	0.44632	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.97501	0.9182	M	0.86953	2.85	0.80722	D	1	D;P;D;D	0.76494	0.995;0.95;0.999;0.96	D;D;D;D	0.76071	0.95;0.956;0.987;0.974	D	0.97722	1.0197	10	0.72032	D	0.01	.	11.2821	0.49201	1.0:0.0:0.0:0.0	.	457;455;444;444	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	P	444;444;457;414;188;455	ENSP00000302397:S444P;ENSP00000411503:S444P;ENSP00000444688:S457P;ENSP00000437577:S455P	ENSP00000302397:S444P	S	-	1	0	ATP1A3	47177601	1.000000	0.71417	0.982000	0.44146	0.883000	0.51084	5.898000	0.69838	1.979000	0.57680	0.454000	0.30748	TCT		0.572	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		18	32	0	0	0	1	0	18	32					G	42485761	A	G	42485761	3	3	48	1	0	0	0	0	1	0	0	0	1130	275	10	4	1763	4	ATP1A3	19	42485761	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	132899	42485761	16643222	4056	8524										
LIPE	3991	broad.mit.edu	37	chr19	42910525	42910525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtcccccgcaaggcagattCgttcccctgttgagcctggt	11	14	0	2	rs150484479		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:42910525C>T	ENST00000244289.4	-	7	2429	c.2153G>A	c.(2152-2154)cGa>cAa	p.R718Q	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	718					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AAGGCAGATTCGTTCCCCTGT	0.647													C|||	1	0.000199681	0	0	5008	,	,		18362	0.001		0	False		,,,				2504	0					ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(2152-2154)cGa>cAa		lipase, hormone-sensitive							48	47	48					19																	42910525		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42910525C>T	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2153G>A	19.37:g.42910525C>T	ENSP00000244289:p.Arg718Gln		Somatic				LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	p.R718Q	NM_005357.2	NP_005348.2	WXS	Illumina GAIIx	Phase_I	Q05469	LIPS_HUMAN			7	2429	-		Prostate(69;0.00682)	718					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.2153G>A	CCDS12607.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	21.5	4.164899	0.78339	.	.	ENSG00000079435	ENST00000244289	T	0.13089	2.62	4.74	4.74	0.60224	Alpha/beta hydrolase fold-3 (1);	0.459732	0.21067	N	0.080740	T	0.22322	0.0538	M	0.73753	2.245	0.43021	D	0.994579	P	0.45176	0.852	P	0.45276	0.475	T	0.01894	-1.1252	10	0.72032	D	0.01	-16.5993	11.2804	0.49190	0.0:0.9098:0.0:0.0902	.	718	Q05469	LIPS_HUMAN	Q	718	ENSP00000244289:R718Q	ENSP00000244289:R718Q	R	-	2	0	LIPE	47602365	0.982000	0.34865	0.998000	0.56505	0.946000	0.59487	0.965000	0.29319	2.367000	0.80283	0.579000	0.79373	CGA		0.647	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		13	27	0	0	0	1	0	13	27					T	42910525	C	T	42910525	3	4	48	1	0	0	0	0	1	0	0	0	8830	884	31	1	1093	1	LIPE	19	42910525	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	424764	42910525	16218458	4057	8525										
PSG6	5675	broad.mit.edu	37	chr19	43411078	43411078	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgggatccacttaccagaGactttgactatcatggattt	9	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:43411078G>T	ENST00000292125.2	-	5	1280	c.1236C>A	c.(1234-1236)gtC>gtA	p.V412V	PSG6_ENST00000402603.4_Silent_p.V319V|PSG6_ENST00000187910.2_Silent_p.V412V	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	412					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACTTACCAGAGACTTTGACTA	0.443																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1234-1236)gtC>gtA		pregnancy specific beta-1-glycoprotein 6							188	195	193					19																	43411078		2201	4299	6500	SO:0001819	synonymous_variant	5675							g.chr19:43411078G>T		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.1236C>A	19.37:g.43411078G>T			Somatic				PSG6_ENST00000402603.4_Silent_p.V319V|PSG6_ENST00000292125.2_Silent_p.V412V	p.V412V	NM_001031850.3	NP_001027020.1	WXS	Illumina GAIIx	Phase_I					5	1301	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Silent	SNP	ENST00000292125.2	37	c.1236C>A	CCDS12613.1																																																																																				0.443	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		102	197	1	0	3.78979e-47	1	5.49226e-47	102	197					T	43411078	G	T	43411078	2	4	48	1	0	0	0	0	0	0	0	1	12671	929	33	2		2	PSG6	19	43411078	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	500553	43411078	15717905	4058	8526										
ZNF404	342908	broad.mit.edu	37	chr19	44377739	44377739	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcatagggtttcataccagtAtgaattatctgatgctgaat	8	6	3	3	rs373038530	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44377739A>G	ENST00000587539.1	-	3	626	c.627T>C	c.(625-627)caT>caC	p.H209H	ZNF404_ENST00000324394.6_Silent_p.H207H	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TCATACCAGTATGAATTATCT	0.388													A|||	2	0.000399361	0	0.0014	5008	,	,		20385	0		0.001	False		,,,				2504	0					ENST00000587539.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(625-627)caT>caC		zinc finger protein 404		A		0,4226		0,0,2113	92	97	95		627	1.7	1	19		95	7,8503		0,7,4248	no	coding-synonymous	ZNF404	NM_001033719.2		0,7,6361	GG,GA,AA		0.0823,0.0,0.055		209/553	44377739	7,12729	2113	4255	6368	SO:0001819	synonymous_variant	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44377739A>G	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.627T>C	19.37:g.44377739A>G			Somatic				ZNF404_ENST00000324394.6_Silent_p.H207H	p.H209H	NM_001033719.2	NP_001028891.2	WXS	Illumina GAIIx	Phase_I	Q494X3	ZN404_HUMAN			3	626	-		Prostate(69;0.0352)	209					A4FU30|K7ELF2	Silent	SNP	ENST00000587539.1	37	c.627T>C	CCDS59394.1																																																																																				0.388	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		24	48	0	0	0	1	0	24	48					G	44377739	A	G	44377739	2	3	48	1	0	0	0	0	0	0	0	1	17901	446	16	4		4	ZNF404	19	44377739	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	966661	44377739	14751244	4059	8527										
ZNF227	7770	broad.mit.edu	37	chr19	44740349	44740349	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagggcttcagttggagatCaaatcttcatgcacatcaaa	9	8	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44740349C>A	ENST00000313040.7	+	6	1971	c.1766C>A	c.(1765-1767)tCa>tAa	p.S589*	ZNF227_ENST00000391961.2_Nonsense_Mutation_p.S538*|ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000589005.1_Nonsense_Mutation_p.S538*	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				AGTTGGAGATCAAATCTTCAT	0.388																																						ENST00000313040.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24						c.(1765-1767)tCa>tAa		zinc finger protein 227							65	66	66					19																	44740349		2203	4300	6503	SO:0001587	stop_gained	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44740349C>A	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.1766C>A	19.37:g.44740349C>A	ENSP00000321049:p.Ser589*		Somatic				ZNF227_ENST00000391961.2_Nonsense_Mutation_p.S538*|ZNF227_ENST00000589005.1_Nonsense_Mutation_p.S538*|ZNF235_ENST00000589799.1_3'UTR	p.S589*	NM_182490.1	NP_872296.1	WXS	Illumina GAIIx	Phase_I	Q86WZ6	ZN227_HUMAN			6	1971	+		Prostate(69;0.0435)	589					B3KRU7|B7Z5P9	Nonsense_Mutation	SNP	ENST00000313040.7	37	c.1766C>A	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	C	37	6.064882	0.97251	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.798	0.78428	0.0:1.0:0.0:0.0	.	.	.	.	X	589;546;538;568	.	ENSP00000321049:S589X	S	+	2	0	ZNF227	49432189	0.000000	0.05858	0.526000	0.27913	0.982000	0.71751	-0.032000	0.12266	2.076000	0.62316	0.557000	0.71058	TCA		0.388	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		33	35	1	0	4.74835e-14	1	6.14782e-14	33	35					A	44740349	C	A	44740349	4	1	48	1	0	0	0	0	0	1	0	0	17796	838	29	2	1780	2	ZNF227	19	44740349	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	362610	44740349	14388634	4060	8528										
ZNF233	353355	broad.mit.edu	37	chr19	44777266	44777266	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaggagaatctagtcaggtCtctgaagatgagaactatgt	11	6	3	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44777266C>A	ENST00000391958.2	+	5	580	c.453C>A	c.(451-453)gtC>gtA	p.V151V	ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CTAGTCAGGTCTCTGAAGATG	0.418																																						ENST00000391958.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(451-453)gtC>gtA		zinc finger protein 233							59	61	61					19																	44777266		2203	4300	6503	SO:0001819	synonymous_variant	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44777266C>A	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"Zinc fingers, C2H2-type", "-"	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.453C>A	19.37:g.44777266C>A			Somatic				ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Intron|ZNF235_ENST00000589799.1_Intron	p.V151V	NM_181756.2	NP_861421.2	WXS	Illumina GAIIx	Phase_I	A6NK53	ZN233_HUMAN			5	580	+		Prostate(69;0.0435)|all_neural(266;0.226)	151					B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	37	c.453C>A	CCDS33047.1																																																																																				0.418	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		24	38	1	0	1.85244e-09	1	2.22951e-09	24	38					A	44777266	C	A	44777266	2	1	48	1	0	0	0	0	0	0	0	1	17801	900	32	2		2	ZNF233	19	44777266	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	36917	44777266	14351717	4061	8529										
ZFP112	7771	broad.mit.edu	37	chr19	44833664	44833664	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttctgtgtacttccagttTatcattgtgatgtgagagcc	9	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44833664T>G	ENST00000337401.4	-	5	752	c.664A>C	c.(664-666)Aaa>Caa	p.K222Q	ZNF112_ENST00000354340.4_Missense_Mutation_p.K216Q|ZNF112_ENST00000536500.1_Missense_Mutation_p.K239Q	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	222				K -> E (in Ref. 1; AAF12816). {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)										ACTTCCAGTTTATCATTGTGA	0.368																																						ENST00000354340.4																			0											c.(646-648)Aaa>Caa		zinc finger protein 112							115	111	112					19																	44833664		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44833664T>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.664A>C	19.37:g.44833664T>G	ENSP00000337081:p.Lys222Gln		Somatic				ZNF112_ENST00000536500.1_Missense_Mutation_p.K239Q|ZNF112_ENST00000337401.4_Missense_Mutation_p.K222Q	p.K216Q	NM_013380.3	NP_037512.3	WXS	Illumina GAIIx	Phase_I					4	697	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.646A>C	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	0.262	-0.999130	0.02128	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.05447	3.44;3.45;3.46	4.46	2.13	0.27403	.	0.440276	0.16671	N	0.204351	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	B;B;B	0.19817	0.023;0.039;0.023	B;B;B	0.20384	0.013;0.029;0.013	T	0.46638	-0.9177	10	0.14252	T	0.57	-11.3289	10.435	0.44430	0.0:0.0:0.5453:0.4546	.	221;239;222	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	Q	222;222;216;239;221	ENSP00000337081:K222Q;ENSP00000346305:K216Q;ENSP00000441990:K239Q	ENSP00000253426:K221Q	K	-	1	0	ZNF285	49525504	0.003000	0.15002	0.001000	0.08648	0.056000	0.15407	0.959000	0.29240	0.822000	0.34565	0.459000	0.35465	AAA		0.368	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		25	59	0	0	0	1	0	25	59					G	44833664	T	G	44833664	3	3	48	1	0	0	0	0	1	0	0	0	17653	1763	61	4	2081	4	ZFP112	19	44833664	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	56398	44833664	14295319	4062	8530										
ZNF285	26974	broad.mit.edu	37	chr19	44891906	44891906	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctcttccatgtaaattccCttatatcttccctgagagtt	4	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44891906C>A	ENST00000330997.4	-	4	565	c.501G>T	c.(499-501)aaG>aaT	p.K167N	ZNF285_ENST00000544719.2_Missense_Mutation_p.K167N|ZNF285_ENST00000591679.1_Missense_Mutation_p.K174N|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	167					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						TGTAAATTCCCTTATATCTTC	0.463																																						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.(499-501)aaG>aaT		zinc finger protein 285							89	90	90					19																	44891906		2203	4297	6500	SO:0001583	missense	26974							g.chr19:44891906C>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.501G>T	19.37:g.44891906C>A	ENSP00000333595:p.Lys167Asn		Somatic				ZNF285_ENST00000591679.1_Missense_Mutation_p.K174N|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.K167N	p.K167N	NM_152354.3	NP_689567.3	WXS	Illumina GAIIx	Phase_I					4	565	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.501G>T	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	C	8.952	0.968395	0.18659	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.07567	3.18	2.94	1.82	0.25136	.	.	.	.	.	T	0.08891	0.0220	L	0.59436	1.845	0.09310	N	1	B;B	0.33694	0.421;0.421	B;B	0.32393	0.145;0.145	T	0.26155	-1.0111	9	0.62326	D	0.03	.	5.2099	0.15310	0.0:0.6606:0.2163:0.1231	.	191;167	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	N	190;167	ENSP00000333595:K167N	ENSP00000333595:K167N	K	-	3	2	ZNF285	49583746	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-0.070000	0.11523	0.517000	0.28361	0.454000	0.30748	AAG		0.463	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		27	55	1	0	3.99451e-17	1	5.34789e-17	27	55					A	44891906	C	A	44891906	3	1	48	1	0	0	0	0	1	0	0	0	17837	680	24	5	1275	5	ZNF285	19	44891906	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	58242	44891906	14237077	4063	8531										
ZNF229	7772	broad.mit.edu	37	chr19	44933963	44933963	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttacgtatgtgcgtgttctgTctgacgccccgaccacgctc	10	14	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44933963T>C	ENST00000588931.1	-	6	1426	c.993A>G	c.(991-993)agA>agG	p.R331R	ZNF229_ENST00000291187.4_Silent_p.R325R|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	331					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)				GCGTGTTCTGTCTGACGCCCC	0.507																																						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.(973-975)agA>agG		zinc finger protein 229							63	61	62					19																	44933963		1945	4150	6095	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933963T>C	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.993A>G	19.37:g.44933963T>C			Somatic				ZNF229_ENST00000588931.1_Silent_p.R331R|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	p.R325R	NM_001278510.1	NP_001265439.1	WXS	Illumina GAIIx	Phase_I	Q9UJW7	ZN229_HUMAN			6	1297	-		Prostate(69;0.0352)	331					B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.975A>G	CCDS42574.1																																																																																				0.507	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		5	64	0	0	0	1	0	5	64					C	44933963	T	C	44933963	2	2	48	1	0	0	0	0	0	0	0	1	17797	1664	58	4		4	ZNF229	19	44933963	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	42057	44933963	14195020	4064	8532										
ZNF180	7733	broad.mit.edu	37	chr19	44981496	44981496	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttctctccagtatgagttCtctgatgggaaacaaggtgc	11	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44981496C>A	ENST00000221327.4	-	5	1483	c.1202G>T	c.(1201-1203)aGa>aTa	p.R401I	ZNF180_ENST00000592529.1_Missense_Mutation_p.R374I|ZNF180_ENST00000391956.4_Missense_Mutation_p.R376I|ZNF180_ENST00000585514.1_5'Flank|AC069278.4_ENST00000591684.1_lincRNA	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	401					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.R401I(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AGTATGAGTTCTCTGATGGGA	0.448																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			2	Substitution - Missense(2)	p.R401I(2)	large_intestine(2)	NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1201-1203)aGa>aTa		zinc finger protein 180							66	68	67					19																	44981496		2203	4300	6503	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981496C>A	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1202G>T	19.37:g.44981496C>A	ENSP00000221327:p.Arg401Ile		Somatic				ZNF180_ENST00000391956.4_Missense_Mutation_p.R376I|ZNF180_ENST00000592529.1_Missense_Mutation_p.R374I	p.R401I	NM_013256.3	NP_037388.2	WXS	Illumina GAIIx	Phase_I	Q9UJW8	ZN180_HUMAN			5	1483	-		Prostate(69;0.0435)	401					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1202G>T	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640143	0.67244	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.24908	1.83;1.83	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000344	T	0.56077	0.1961	M	0.84683	2.71	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.66979	0.877;0.948;0.948	T	0.63332	-0.6661	10	0.87932	D	0	-11.7145	17.8877	0.88862	0.0:1.0:0.0:0.0	.	376;400;401	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	I	401;376	ENSP00000221327:R401I;ENSP00000375818:R376I	ENSP00000221327:R401I	R	-	2	0	ZNF180	49673336	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.735000	0.26115	2.499000	0.84300	0.591000	0.81541	AGA		0.448	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		17	40	1	0	2.94398e-08	1	3.45884e-08	17	40					A	44981496	C	A	44981496	3	1	48	1	0	0	0	0	1	0	0	0	17763	913	32	2	880	2	ZNF180	19	44981496	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	47533	44981496	14147487	4065	8533										
KLC3	147700	broad.mit.edu	37	chr19	45853653	45853653	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagcggaagagctgtacaaaGaaatcctccacaaggaggac	11	9	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:45853653G>T	ENST00000391946.2	+	9	1300	c.1198G>T	c.(1198-1200)Gaa>Taa	p.E400*	KLC3_ENST00000585434.1_Nonsense_Mutation_p.E399*|ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000470402.1_Nonsense_Mutation_p.E414*	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	400					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GCTGTACAAAGAAATCCTCCA	0.562																																						ENST00000470402.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8						c.(1240-1242)Gaa>Taa		kinesin light chain 3							61	67	65					19																	45853653		1925	4120	6045	SO:0001587	stop_gained	147700					cytoplasm|kinesin complex|microtubule	microtubule motor activity	g.chr19:45853653G>T	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"Tetratricopeptide (TTC) repeat domain containing"	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.1198G>T	19.37:g.45853653G>T	ENSP00000375810:p.Glu400*		Somatic				KLC3_ENST00000391946.2_Nonsense_Mutation_p.E400*|KLC3_ENST00000585434.1_Nonsense_Mutation_p.E399*|ERCC2_ENST00000391945.4_3'UTR	p.E414*			WXS	Illumina GAIIx	Phase_I	Q6P597	KLC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	8	1340	+		Ovarian(192;0.0728)|all_neural(266;0.112)	400					A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Nonsense_Mutation	SNP	ENST00000391946.2	37	c.1240G>T	CCDS12660.2	.	.	.	.	.	.	.	.	.	.	G	35	5.494854	0.96339	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	.	.	.	3.93	2.84	0.33178	.	0.159158	0.39210	N	0.001439	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.8369	0.46692	0.0:0.194:0.806:0.0	.	.	.	.	X	400;414	.	ENSP00000375810:E400X	E	+	1	0	KLC3	50545493	1.000000	0.71417	0.985000	0.45067	0.742000	0.42306	6.372000	0.73123	0.799000	0.34018	0.462000	0.41574	GAA		0.562	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275		20	57	1	0	1.33834e-09	1	1.61283e-09	20	57					T	45853653	G	T	45853653	4	4	48	1	0	0	0	0	0	1	0	0	8344	943	33	2	1228	2	KLC3	19	45853653	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	872157	45853653	13275330	4066	8534										
PRKD2	25865	broad.mit.edu	37	chr19	47204175	47204175	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgagggcgctcttgtcagcCtcgctgaaatcggtggcctc	13	12	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:47204175C>T	ENST00000291281.4	-	7	1227	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E	PRKD2_ENST00000600194.1_Silent_p.E177E|PRKD2_ENST00000601806.1_Silent_p.E177E|PRKD2_ENST00000433867.1_Silent_p.E334E|PRKD2_ENST00000595515.1_Silent_p.E334E			Q9BZL6	KPCD2_HUMAN	protein kinase D2	334					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)		TCTTGTCAGCCTCGCTGAAAT	0.627																																						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.(1000-1002)gaG>gaA		protein kinase D2							63	56	58					19																	47204175		2203	4300	6503	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.chr19:47204175C>T	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.1002G>A	19.37:g.47204175C>T			Somatic				PRKD2_ENST00000291281.4_Silent_p.E334E|PRKD2_ENST00000601806.1_Silent_p.E177E|PRKD2_ENST00000600194.1_Silent_p.E177E|PRKD2_ENST00000595515.1_Silent_p.E334E	p.E334E	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	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)	8	1479	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	334					Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.1002G>A	CCDS12689.1																																																																																				0.627	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		4	42	0	0	0	1	0	4	42					T	47204175	C	T	47204175	2	4	48	1	0	0	0	0	0	0	0	1	12531	680	24	3		3	PRKD2	19	47204175	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1350522	47204175	11924808	4067	8535										
STRN4	29888	broad.mit.edu	37	chr19	47223872	47223872	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgggcatcatacgaagaccTtggccagggcatcagcgcca	13	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:47223872T>G	ENST00000263280.6	-	17	2298	c.2249A>C	c.(2248-2250)aAg>aCg	p.K750T	STRN4_ENST00000594357.2_5'Flank|STRN4_ENST00000539396.1_Missense_Mutation_p.K631T|STRN4_ENST00000391910.3_Missense_Mutation_p.K757T	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	750						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TACGAAGACCTTGGCCAGGGC	0.677																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(2269-2271)aAg>aCg		striatin, calmodulin binding protein 4							95	70	78					19																	47223872		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47223872T>G	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.2249A>C	19.37:g.47223872T>G	ENSP00000263280:p.Lys750Thr		Somatic				STRN4_ENST00000539396.1_Missense_Mutation_p.K631T|STRN4_ENST00000263280.6_Missense_Mutation_p.K750T	p.K757T			WXS	Illumina GAIIx	Phase_I	Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	17	2720	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	750					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.2270A>C	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.690801	0.88735	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	D;D;D	0.82433	-1.61;-1.61;-1.61	4.65	4.65	0.58169	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	0.92802	0.7711	M	0.93678	3.445	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.987;0.998	D	0.94368	0.7593	10	0.87932	D	0	-25.4318	13.1878	0.59691	0.0:0.0:0.0:1.0	.	757;750	F8VYA6;Q9NRL3	.;STRN4_HUMAN	T	757;750;631	ENSP00000375777:K757T;ENSP00000263280:K750T;ENSP00000440901:K631T	ENSP00000263280:K750T	K	-	2	0	STRN4	51915712	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.521000	0.81832	1.944000	0.56390	0.379000	0.24179	AAG		0.677	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			18	26	0	0	0	1	0	18	26					G	47223872	T	G	47223872	3	3	48	1	0	0	0	0	1	0	0	0	15346	1609	56	4	16	4	STRN4	19	47223872	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	19697	47223872	11905111	4068	8536										
FKRP	79147	broad.mit.edu	37	chr19	47258711	47258711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccccagacttcggccccatgCggctcacccgctgccaggct	10	20	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:47258711C>T	ENST00000318584.5	+	4	301	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.R2W	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	2					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGGCCCCATGCGGCTCACCCG	0.657																																						ENST00000318584.5																			0				NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(4-6)Cgg>Tgg		fukutin related protein							9	10	10					19																	47258711		2155	4212	6367	SO:0001583	missense	79147					extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity	g.chr19:47258711C>T	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.4C>T	19.37:g.47258711C>T	ENSP00000326570:p.Arg2Trp		Somatic				FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.R2W	p.R2W	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	WXS	Illumina GAIIx	Phase_I	Q9H9S5	FKRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	4	301	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	2					A8K5G7	Missense_Mutation	SNP	ENST00000318584.5	37	c.4C>T	CCDS12691.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384746	0.82792	.	.	ENSG00000181027	ENST00000391909;ENST00000318584	D;D	0.99685	-6.4;-6.4	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.99492	0.9819	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.97994	1.0356	10	0.87932	D	0	-26.389	15.1802	0.72952	0.0:1.0:0.0:0.0	.	2	Q9H9S5	FKRP_HUMAN	W	2	ENSP00000375776:R2W;ENSP00000326570:R2W	ENSP00000326570:R2W	R	+	1	2	FKRP	51950551	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.193000	0.50997	2.580000	0.87095	0.555000	0.69702	CGG		0.657	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		8	16	0	0	0	1	0	8	16					T	47258711	C	T	47258711	3	4	48	1	0	0	0	0	1	0	0	0	5925	759	27	1	6	1	FKRP	19	47258711	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	34839	47258711	11870272	4069	8537										
ARHGAP35	2909	broad.mit.edu	37	chr19	47424921	47424921	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccatcttacagcctgtttCgagaagacacatcactgcct	7	13	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:47424921C>T	ENST00000404338.3	+	1	2989	c.2989C>T	c.(2989-2991)Cga>Tga	p.R997*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	997					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CAGCCTGTTTCGAGAAGACAC	0.478																																						ENST00000404338.3																			0											c.(2989-2991)Cga>Tga		Rho GTPase activating protein 35							63	62	63					19																	47424921		1939	4149	6088	SO:0001587	stop_gained	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424921C>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2989C>T	19.37:g.47424921C>T	ENSP00000385720:p.Arg997*		Somatic					p.R997*	NM_004491.4	NP_004482.4	WXS	Illumina GAIIx	Phase_I	Q9NRY4	RHG35_HUMAN			1	2989	+			997					A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	c.2989C>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	40	8.316244	0.98757	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	.	.	.	5.76	3.57	0.40892	.	0.061993	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-7.3842	10.1905	0.43024	0.2739:0.5937:0.1324:0.0	.	.	.	.	X	997	.	ENSP00000324820:R997X	R	+	1	2	ARHGAP35	52116761	0.001000	0.12720	0.999000	0.59377	0.993000	0.82548	-0.110000	0.10824	0.737000	0.32582	0.655000	0.94253	CGA		0.478	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		32	39	0	0	0	1	0	32	39					T	47424921	C	T	47424921	4	4	48	1	0	0	0	0	0	1	0	0	6804	876	31	1	2991	1	ARHGAP35	19	47424921	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	166210	47424921	11704062	4070	8538										
SULT2A1	6822	broad.mit.edu	37	chr19	48378009	48378009	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcatgctctgaaaggagctgTtcttgagaattaagttcagt	10	6	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48378009T>C	ENST00000222002.3	-	5	789	c.650A>G	c.(649-651)aAc>aGc	p.N217S		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	217					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	AAAGGAGCTGTTCTTGAGAAT	0.378																																						ENST00000222002.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20						c.(649-651)aAc>aGc		sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1							156	148	151					19																	48378009		2202	4300	6502	SO:0001583	missense	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48378009T>C	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"Sulfotransferases, cytosolic"	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.650A>G	19.37:g.48378009T>C	ENSP00000222002:p.Asn217Ser		Somatic					p.N217S	NM_003167.3	NP_003158.2	WXS	Illumina GAIIx	Phase_I	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	5	789	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	217						Missense_Mutation	SNP	ENST00000222002.3	37	c.650A>G	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.481028	0.44044	.	.	ENSG00000105398	ENST00000222002	D	0.82255	-1.59	3.79	3.79	0.43588	Sulfotransferase domain (1);	0.504996	0.17223	N	0.182271	D	0.84442	0.5473	L	0.42581	1.335	0.09310	N	1	D	0.60575	0.988	P	0.60012	0.867	T	0.74509	-0.3642	10	0.37606	T	0.19	.	11.1431	0.48415	0.0:0.0:0.0:1.0	.	217	Q06520	ST2A1_HUMAN	S	217	ENSP00000222002:N217S	ENSP00000222002:N217S	N	-	2	0	SULT2A1	53069821	0.243000	0.23878	0.002000	0.10522	0.029000	0.11900	2.165000	0.42396	1.949000	0.56562	0.528000	0.53228	AAC		0.378	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		11	40	0	0	0	1	0	11	40					C	48378009	T	C	48378009	3	2	48	1	0	0	0	0	1	0	0	0	15396	1725	60	4	215	4	SULT2A1	19	48378009	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	953088	48378009	10750974	4071	8539										
SULT2A1	6822	broad.mit.edu	37	chr19	48385443	48385443	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accagacaccaaaacatctcTgggatttctcatgagataaa	6	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48385443T>C	ENST00000222002.3	-	3	509	c.370A>G	c.(370-372)Aga>Gga	p.R124G		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	124					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	AAAACATCTCTGGGATTTCTC	0.328																																						ENST00000222002.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20						c.(370-372)Aga>Gga		sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1							67	70	69					19																	48385443		2203	4300	6503	SO:0001583	missense	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48385443T>C	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"Sulfotransferases, cytosolic"	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.370A>G	19.37:g.48385443T>C	ENSP00000222002:p.Arg124Gly		Somatic					p.R124G	NM_003167.3	NP_003158.2	WXS	Illumina GAIIx	Phase_I	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	3	509	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	124						Missense_Mutation	SNP	ENST00000222002.3	37	c.370A>G	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.828762	0.32329	.	.	ENSG00000105398	ENST00000222002	D	0.85013	-1.93	4.15	3.1	0.35709	Sulfotransferase domain (1);	0.298946	0.27956	N	0.017171	D	0.91442	0.7299	M	0.87758	2.905	0.33063	D	0.534321	D	0.89917	1.0	D	0.91635	0.999	D	0.91557	0.5261	10	0.87932	D	0	.	6.7616	0.23544	0.2087:0.0:0.0:0.7913	.	124	Q06520	ST2A1_HUMAN	G	124	ENSP00000222002:R124G	ENSP00000222002:R124G	R	-	1	2	SULT2A1	53077255	0.988000	0.35896	0.999000	0.59377	0.114000	0.19823	2.639000	0.46570	0.716000	0.32124	0.533000	0.62120	AGA		0.328	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		9	65	0	0	0	1	0	9	65					C	48385443	T	C	48385443	3	2	48	1	0	0	0	0	1	0	0	0	15396	1588	55	4	503	4	SULT2A1	19	48385443	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	7434	48385443	10743540	4072	8540										
ELSPBP1	64100	broad.mit.edu	37	chr19	48525433	48525433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttctgcttcctaggaatttCcgcgttggtccctggctttc	9	13	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48525433C>T	ENST00000339841.2	+	6	699	c.521C>T	c.(520-522)tCc>tTc	p.S174F	ELSPBP1_ENST00000597519.1_Missense_Mutation_p.S26F	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	174					single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CTAGGAATTTCCGCGTTGGTC	0.453																																						ENST00000339841.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10						c.(520-522)tCc>tTc		epididymal sperm binding protein 1							208	179	189					19																	48525433		2203	4300	6503	SO:0001583	missense	64100				single fertilization	extracellular region		g.chr19:48525433C>T	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"epididymal protein 12"	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.521C>T	19.37:g.48525433C>T	ENSP00000340660:p.Ser174Phe		Somatic				ELSPBP1_ENST00000597519.1_Missense_Mutation_p.S26F	p.S174F	NM_022142.4	NP_071425.3	WXS	Illumina GAIIx	Phase_I	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	6	699	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	174					Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	c.521C>T	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745726	0.30955	.	.	ENSG00000169393	ENST00000339841	T	0.35421	1.31	3.0	3.0	0.34707	Kringle-like fold (1);	0.451430	0.18733	N	0.132678	T	0.50514	0.1620	M	0.72894	2.215	0.09310	N	1	D	0.67145	0.996	P	0.56612	0.802	T	0.40979	-0.9534	10	0.62326	D	0.03	.	12.2173	0.54414	0.0:1.0:0.0:0.0	.	174	Q96BH3	ESPB1_HUMAN	F	174	ENSP00000340660:S174F	ENSP00000340660:S174F	S	+	2	0	ELSPBP1	53217245	0.122000	0.22280	0.018000	0.16275	0.173000	0.22820	2.471000	0.45127	1.968000	0.57251	0.609000	0.83330	TCC		0.453	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			31	64	0	0	0	1	0	31	64					T	48525433	C	T	48525433	3	4	48	1	0	0	0	0	1	0	0	0	5085	855	30	3	539	3	ELSPBP1	19	48525433	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	139990	48525433	10603550	4073	8541										
CCDC114	93233	broad.mit.edu	37	chr19	48800598	48800598	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagccacggtctctgctagTcttgtggctcaaaatggacc	11	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48800598T>C	ENST00000315396.7	-	14	2330	c.1648A>G	c.(1648-1650)Act>Gct	p.T550A		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	550					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)		TCTCTGCTAGTCTTGTGGCTC	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.(1648-1650)Act>Gct		coiled-coil domain containing 114							47	51	50					19																	48800598		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48800598T>C	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.1648A>G	19.37:g.48800598T>C	ENSP00000318429:p.Thr550Ala		Somatic					p.T550A	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)	14	2330	-		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)	550					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.1648A>G	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	T	12.62	1.992575	0.35131	.	.	ENSG00000105479	ENST00000315396	T	0.35605	1.3	2.56	0.372	0.16173	.	.	.	.	.	T	0.16342	0.0393	N	0.08118	0	0.09310	N	1	B	0.23128	0.08	B	0.22601	0.04	T	0.22277	-1.0221	9	0.34782	T	0.22	-0.9602	4.7349	0.12982	0.0:0.3034:0.0:0.6966	.	550	Q96M63	CC114_HUMAN	A	550	ENSP00000318429:T550A	ENSP00000318429:T550A	T	-	1	0	CCDC114	53492410	0.050000	0.20438	0.001000	0.08648	0.013000	0.08279	0.641000	0.24720	-0.005000	0.14395	0.459000	0.35465	ACT		0.647	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		7	92	0	0	0	1	0	7	92					C	48800598	T	C	48800598	3	2	48	1	0	0	0	0	1	0	0	0	2753	1667	58	4	368	4	CCDC114	19	48800598	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	275165	48800598	10328385	4074	8542										
CCDC114	93233	broad.mit.edu	37	chr19	48806990	48806990	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagggcgtcctcgtagcaaAgcaccagcctctcctgggag	12	14	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48806990A>G	ENST00000315396.7	-	8	1476	c.794T>C	c.(793-795)cTt>cCt	p.L265P		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	265					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)		CTCGTAGCAAAGCACCAGCCT	0.627																																						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.(793-795)cTt>cCt		coiled-coil domain containing 114							84	82	83					19																	48806990		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48806990A>G	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.794T>C	19.37:g.48806990A>G	ENSP00000318429:p.Leu265Pro		Somatic					p.L265P	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)	8	1476	-		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)	265					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.794T>C	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	A	12.83	2.054571	0.36277	.	.	ENSG00000105479	ENST00000315396	T	0.21734	1.99	3.02	3.02	0.34903	.	.	.	.	.	T	0.32406	0.0828	L	0.51422	1.61	0.51012	D	0.999909	D;D;D	0.76494	0.999;0.997;0.983	D;D;P	0.67382	0.951;0.931;0.804	T	0.02852	-1.1102	9	0.30854	T	0.27	-10.4995	7.7343	0.28804	1.0:0.0:0.0:0.0	.	58;265;265	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	P	265	ENSP00000318429:L265P	ENSP00000318429:L265P	L	-	2	0	CCDC114	53498802	0.538000	0.26394	0.964000	0.40570	0.373000	0.29922	2.454000	0.44979	1.387000	0.46486	0.528000	0.53228	CTT		0.627	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		40	70	0	0	0	1	0	40	70					G	48806990	A	G	48806990	3	3	48	1	0	0	0	0	1	0	0	0	2753	72	3	4	1246	4	CCDC114	19	48806990	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	6392	48806990	10321993	4075	8543										
ALDH16A1	126133	broad.mit.edu	37	chr19	49963000	49963000	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggtgactgggcgggctgttCgagaggttcgagacggggac	20	7	0	3	rs534259783		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:49963000C>T	ENST00000293350.4	+	4	557	c.394C>T	c.(394-396)Cga>Tga	p.R132*	ALDH16A1_ENST00000540132.1_Intron|ALDH16A1_ENST00000455361.2_Nonsense_Mutation_p.R132*|ALDH16A1_ENST00000433981.2_5'UTR	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	132						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)		GCGGGCTGTTCGAGAGGTTCG	0.642																																						ENST00000293350.4																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20						c.(394-396)Cga>Tga		aldehyde dehydrogenase 16 family, member A1							56	57	56					19																	49963000		2203	4300	6503	SO:0001587	stop_gained	126133						oxidoreductase activity|protein binding	g.chr19:49963000C>T	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.394C>T	19.37:g.49963000C>T	ENSP00000293350:p.Arg132*		Somatic				ALDH16A1_ENST00000455361.2_Nonsense_Mutation_p.R132*|ALDH16A1_ENST00000433981.2_5'UTR|ALDH16A1_ENST00000540132.1_Intron	p.R132*	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)	4	557	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	132					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Nonsense_Mutation	SNP	ENST00000293350.4	37	c.394C>T	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742084	0.69418	.	.	ENSG00000161618	ENST00000293350;ENST00000455361	.	.	.	5.38	3.2	0.36748	.	0.515162	0.18506	N	0.139209	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.558	7.069	0.25167	0.17:0.7416:0.0:0.0884	.	.	.	.	X	132	.	ENSP00000293350:R132X	R	+	1	2	ALDH16A1	54654812	0.022000	0.18835	0.838000	0.33150	0.056000	0.15407	0.305000	0.19254	0.738000	0.32606	0.585000	0.79938	CGA		0.642	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		25	47	0	0	0	1	0	25	47					T	49963000	C	T	49963000	4	4	48	1	0	0	0	0	0	1	0	0	488	876	31	1	408	1	ALDH16A1	19	49963000	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1156010	49963000	9165983	4076	8544										
TSKS	60385	broad.mit.edu	37	chr19	50251695	50251695	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaagctggtgatggagtctTtggcgcggaccaatccactg	13	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:50251695T>C	ENST00000246801.3	-	3	513	c.431A>G	c.(430-432)aAa>aGa	p.K144R	TSKS_ENST00000358830.3_5'Flank	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	144					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GATGGAGTCTTTGGCGCGGAC	0.562																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(430-432)aAa>aGa		testis-specific serine kinase substrate							121	99	106					19																	50251695		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50251695T>C	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.431A>G	19.37:g.50251695T>C	ENSP00000246801:p.Lys144Arg		Somatic					p.K144R	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)	3	513	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	144					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.431A>G	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.217611	0.79352	.	.	ENSG00000126467	ENST00000246801	T	0.42131	0.98	4.85	4.85	0.62838	.	0.000000	0.56097	D	0.000023	T	0.50343	0.1610	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.51132	-0.8744	10	0.52906	T	0.07	-14.7354	12.0544	0.53527	0.0:0.0:0.0:1.0	.	144	Q9UJT2	TSKS_HUMAN	R	144	ENSP00000246801:K144R	ENSP00000246801:K144R	K	-	2	0	TSKS	54943507	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.960000	0.56752	2.041000	0.60428	0.379000	0.24179	AAA		0.562	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		12	45	0	0	0	1	0	12	45					C	50251695	T	C	50251695	3	2	48	1	0	0	0	0	1	0	0	0	16641	1841	64	4	1383	4	TSKS	19	50251695	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	288695	50251695	8877288	4077	8545										
NUP62	23636	broad.mit.edu	37	chr19	50412779	50412779	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgttgctcaagttgagctTtgaagcaccgatccccaaag	10	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:50412779T>G	ENST00000596217.1	-	2	2173	c.286A>C	c.(286-288)Aag>Cag	p.K96Q	IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.K96Q|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000422090.2_Missense_Mutation_p.K96Q|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000413454.1_Missense_Mutation_p.K96Q|NUP62_ENST00000352066.3_Missense_Mutation_p.K96Q|NUP62_ENST00000597723.1_Missense_Mutation_p.K96Q|IL4I1_ENST00000595948.1_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	96	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|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 MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|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 transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AAGTTGAGCTTTGAAGCACCG	0.572																																						ENST00000596217.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19						c.(286-288)Aag>Cag		nucleoporin 62kDa							94	95	95					19																	50412779		2203	4300	6503	SO:0001583	missense	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412779T>G	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.286A>C	19.37:g.50412779T>G	ENSP00000471191:p.Lys96Gln		Somatic				CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000352066.3_Missense_Mutation_p.K96Q|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000413454.1_Missense_Mutation_p.K96Q|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597723.1_Missense_Mutation_p.K96Q|NUP62_ENST00000597029.1_Missense_Mutation_p.K96Q|NUP62_ENST00000422090.2_Missense_Mutation_p.K96Q	p.K96Q			WXS	Illumina GAIIx	Phase_I	P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	2173	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	96			15 X 9 AA approximate repeats.|Thr-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	37	c.286A>C	CCDS12788.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.165441	0.38217	.	.	ENSG00000213024	ENST00000319225;ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.38560	1.13;1.13;1.13	5.2	5.2	0.72013	Nucleoporin, NSP1-like, C-terminal (1);	0.167830	0.39909	U	0.001231	T	0.55257	0.1909	M	0.78637	2.42	0.51233	D	0.999913	D;D	0.57571	0.98;0.966	P;P	0.53649	0.731;0.543	T	0.58132	-0.7690	10	0.44086	T	0.13	-16.2311	11.6513	0.51290	0.0:0.0:0.0:1.0	.	96;96	Q8WYU3;P37198	.;NUP62_HUMAN	Q	96	ENSP00000305503:K96Q;ENSP00000407331:K96Q;ENSP00000387991:K96Q	ENSP00000321866:K96Q	K	-	1	0	NUP62	55104591	0.990000	0.36364	0.762000	0.31397	0.030000	0.12068	2.541000	0.45735	2.319000	0.78375	0.533000	0.62120	AAG		0.572	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		61	90	0	0	0	1	0	61	90					G	50412779	T	G	50412779	3	3	48	1	0	0	0	0	1	0	0	0	10777	1850	64	4	1286	4	NUP62	19	50412779	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	161084	50412779	8716204	4078	8546										
MYBPC2	4606	broad.mit.edu	37	chr19	50946777	50946777	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttgagaacgttggtaagaAgcgaattcttaccatcaaca	9	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:50946777A>C	ENST00000357701.5	+	10	980	c.929A>C	c.(928-930)aAg>aCg	p.K310T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	310	Ig-like C2-type 2.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTTGGTAAGAAGCGAATTCTT	0.498																																						ENST00000357701.5																			0				breast(1)	1						c.(928-930)aAg>aCg		myosin binding protein C, fast type							65	64	64					19																	50946777		2099	4231	6330	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50946777A>C		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.929A>C	19.37:g.50946777A>C	ENSP00000350332:p.Lys310Thr		Somatic					p.K310T	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)	10	980	+		all_neural(266;0.057)	310			Ig-like C2-type 2.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.929A>C	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	a	12.28	1.892086	0.33442	.	.	ENSG00000086967	ENST00000357701	T	0.66638	-0.22	3.91	3.91	0.45181	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.179817	0.23356	U	0.049078	T	0.63838	0.2545	M	0.73319	2.225	0.30157	N	0.802503	B	0.24721	0.11	B	0.36092	0.217	T	0.56896	-0.7903	10	0.13108	T	0.6	.	7.4605	0.27291	0.8958:0.0:0.1042:0.0	.	310	Q14324	MYPC2_HUMAN	T	310	ENSP00000350332:K310T	ENSP00000350332:K310T	K	+	2	0	MYBPC2	55638589	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	3.452000	0.52971	1.729000	0.51567	0.172000	0.16884	AAG		0.498	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		10	16	0	0	0	1	0	10	16					C	50946777	A	C	50946777	3	2	48	1	0	0	0	0	1	0	0	0	10021	72	3	4	967	4	MYBPC2	19	50946777	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	533998	50946777	8182206	4079	8547										
SHANK1	50944	broad.mit.edu	37	chr19	51205732	51205732	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caccctgggtacctttgatcTtctcgcccttgctcagggag	10	14	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:51205732T>G	ENST00000293441.1	-	11	1757	c.1739A>C	c.(1738-1740)aAg>aCg	p.K580T	SHANK1_ENST00000359082.3_Missense_Mutation_p.K580T|SHANK1_ENST00000391814.1_Missense_Mutation_p.K580T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	580	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)		ACCTTTGATCTTCTCGCCCTT	0.627																																						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.(1738-1740)aAg>aCg		SH3 and multiple ankyrin repeat domains 1							64	49	54					19																	51205732		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.chr19:51205732T>G	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.1739A>C	19.37:g.51205732T>G	ENSP00000293441:p.Lys580Thr		Somatic				SHANK1_ENST00000359082.3_Missense_Mutation_p.K580T|SHANK1_ENST00000391814.1_Missense_Mutation_p.K580T	p.K580T	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)	11	1757	-		all_neural(266;0.057)	580			SH3.		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.1739A>C	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.709811	0.48517	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.06933	3.24;3.24;3.24	4.21	4.21	0.49690	Src homology-3 domain (3);Variant SH3 (1);	0.161726	0.37348	U	0.002134	T	0.15696	0.0378	N	0.21194	0.64	0.37354	D	0.910938	D	0.63880	0.993	D	0.77004	0.989	T	0.12091	-1.0561	10	0.48119	T	0.1	-9.469	12.9493	0.58389	0.0:0.0:0.0:1.0	.	580	Q9Y566	SHAN1_HUMAN	T	580	ENSP00000293441:K580T;ENSP00000351984:K580T;ENSP00000375690:K580T	ENSP00000293441:K580T	K	-	2	0	SHANK1	55897544	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.663000	0.46774	1.853000	0.53794	0.454000	0.30748	AAG		0.627	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		4	25	0	0	0	1	0	4	25					G	51205732	T	G	51205732	3	3	48	1	0	0	0	0	1	0	0	0	14279	1609	56	4	4798	4	SHANK1	19	51205732	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	258955	51205732	7923251	4080	8548										
SHANK1	50944	broad.mit.edu	37	chr19	51218983	51218983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtaaactcgggtcttgtatCggaactgaggtcaagggtag	14	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:51218983C>T	ENST00000293441.1	-	3	482	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	SHANK1_ENST00000359082.3_Missense_Mutation_p.R155Q|SHANK1_ENST00000391814.1_Missense_Mutation_p.R155Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	155					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)		GGTCTTGTATCGGAACTGAGG	0.532																																						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.(463-465)cGa>cAa		SH3 and multiple ankyrin repeat domains 1							193	176	182					19																	51218983		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.chr19:51218983C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.464G>A	19.37:g.51218983C>T	ENSP00000293441:p.Arg155Gln		Somatic				SHANK1_ENST00000359082.3_Missense_Mutation_p.R155Q|SHANK1_ENST00000391814.1_Missense_Mutation_p.R155Q	p.R155Q	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)	3	482	-		all_neural(266;0.057)	155					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.464G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	c	12.15	1.850499	0.32699	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.18174	2.23;2.23;2.23	1.55	1.55	0.23275	.	0.000000	0.50627	U	0.000119	T	0.38134	0.1029	M	0.78049	2.395	0.53688	D	0.999972	D	0.89917	1.0	D	0.74023	0.982	T	0.39800	-0.9596	10	0.87932	D	0	.	10.8145	0.46567	0.0:1.0:0.0:0.0	.	155	Q9Y566	SHAN1_HUMAN	Q	155	ENSP00000293441:R155Q;ENSP00000351984:R155Q;ENSP00000375690:R155Q	ENSP00000293441:R155Q	R	-	2	0	SHANK1	55910795	1.000000	0.71417	0.999000	0.59377	0.880000	0.50808	6.825000	0.75293	1.211000	0.43351	0.298000	0.19748	CGA		0.532	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		44	79	0	0	0	1	0	44	79					T	51218983	C	T	51218983	3	4	48	1	0	0	0	0	1	0	0	0	14279	884	31	1	6105	1	SHANK1	19	51218983	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	13251	51218983	7910000	4081	8549										
GPR32	2854	broad.mit.edu	37	chr19	51274539	51274539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctgctgggcttcctggggCccttagcaatcataggcacc	11	14	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:51274539C>T	ENST00000270590.4	+	1	819	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	228					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.P228S(2)		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)		CTTCCTGGGGCCCTTAGCAAT	0.597																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			2	Substitution - Missense(2)	p.P228S(2)	lung(2)	breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(682-684)Ccc>Tcc		G protein-coupled receptor 32							48	50	49					19																	51274539		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274539C>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.682C>T	19.37:g.51274539C>T	ENSP00000270590:p.Pro228Ser		Somatic					p.P228S	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	819	+		all_neural(266;0.131)	228					Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.682C>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191989	0.38707	.	.	ENSG00000142511	ENST00000270590	T	0.55930	0.49	2.56	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75309	0.3832	M	0.91459	3.21	0.42298	D	0.992161	D	0.89917	1.0	D	0.97110	1.0	T	0.80659	-0.1284	9	0.87932	D	0	.	11.228	0.48895	0.0:1.0:0.0:0.0	.	228	O75388	GPR32_HUMAN	S	228	ENSP00000270590:P228S	ENSP00000270590:P228S	P	+	1	0	GPR32	55966351	0.988000	0.35896	0.004000	0.12327	0.080000	0.17528	4.064000	0.57506	1.356000	0.45884	0.313000	0.20887	CCC		0.597	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			25	50	0	0	0	1	0	25	50					T	51274539	C	T	51274539	3	4	48	1	0	0	0	0	1	0	0	0	6696	739	26	3	684	3	GPR32	19	51274539	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	55556	51274539	7854444	4082	8550										
LIM2	3982	broad.mit.edu	37	chr19	51883766	51883766	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgcccccagtacctgcgaaGaacgtcatgagcactgccac	9	15	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:51883766G>T	ENST00000596399.1	-	4	500	c.453C>A	c.(451-453)ttC>ttA	p.F151L	LIM2_ENST00000221973.3_Missense_Mutation_p.F193L	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	151					cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		TACCTGCGAAGAACGTCATGA	0.612																																						ENST00000221973.3																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(577-579)ttC>ttA		lens intrinsic membrane protein 2, 19kDa							161	162	162					19																	51883766		2203	4300	6503	SO:0001583	missense	3982				cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	g.chr19:51883766G>T		CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"lens intrinsic membrane protein 2 (19kD)"			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.453C>A	19.37:g.51883766G>T	ENSP00000472090:p.Phe151Leu		Somatic				LIM2_ENST00000596399.1_Missense_Mutation_p.F151L	p.F193L	NM_030657.3	NP_085915.2	WXS	Illumina GAIIx	Phase_I	P55344	LMIP_HUMAN		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)	4	621	-		all_neural(266;0.0529)	151					Q6B083|Q9BXD0|Q9HAR5	Missense_Mutation	SNP	ENST00000596399.1	37	c.579C>A	CCDS59415.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602536	0.66445	.	.	ENSG00000105370	ENST00000221973	D	0.88201	-2.35	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.91620	0.7352	L	0.45285	1.41	0.80722	D	1	P;D	0.61697	0.649;0.99	B;D	0.72982	0.216;0.979	D	0.91510	0.5226	10	0.45353	T	0.12	-13.0558	15.2238	0.73333	0.0:0.0:1.0:0.0	.	151;193	P55344;P55344-2	LMIP_HUMAN;.	L	193	ENSP00000221973:F193L	ENSP00000221973:F193L	F	-	3	2	LIM2	56575578	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	3.867000	0.56047	2.178000	0.69098	0.655000	0.94253	TTC		0.612	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1	NM_030657		9	309	1	0	3.09899e-07	1	3.54467e-07	9	309					T	51883766	G	T	51883766	3	4	48	1	0	0	0	0	1	0	0	0	8804	933	33	2	76	2	LIM2	19	51883766	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	609227	51883766	7245217	4083	8551										
CEACAM18	729767	broad.mit.edu	37	chr19	51986322	51986322	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctgatgatttcaacggcaTtgtgacagctgagatcggct	11	9	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:51986322T>C	ENST00000396477.4	+	4	746	c.725T>C	c.(724-726)aTt>aCt	p.I242T	CEACAM18_ENST00000451626.1_Missense_Mutation_p.I303T	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	242	Ig-like C2-type.									breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTCAACGGCATTGTGACAGCT	0.537																																						ENST00000396477.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17						c.(724-726)aTt>aCt		carcinoembryonic antigen-related cell adhesion molecule 18							220	209	213					19																	51986322		1982	4180	6162	SO:0001583	missense	729767					integral to membrane		g.chr19:51986322T>C			19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.725T>C	19.37:g.51986322T>C	ENSP00000379738:p.Ile242Thr		Somatic				CEACAM18_ENST00000451626.1_Missense_Mutation_p.I303T	p.I242T	NM_001278392.1	NP_001265321.1	WXS	Illumina GAIIx	Phase_I	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	746	+		all_neural(266;0.0529)	303					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.725T>C		.	.	.	.	.	.	.	.	.	.	.	6.279	0.419646	0.11928	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.04917	3.53	2.76	-0.645	0.11475	Immunoglobulin-like (1);	.	.	.	.	T	0.03871	0.0109	N	0.20530	0.585	0.09310	N	1	B	0.17852	0.024	B	0.22152	0.038	T	0.47522	-0.9111	9	0.21540	T	0.41	-11.004	5.7588	0.18188	0.0:0.4373:0.0:0.5627	.	303	A8MTB9	CEA18_HUMAN	T	303;242;242	ENSP00000402203:I303T	ENSP00000379738:I242T	I	+	2	0	CEACAM18	56678134	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.138000	0.10374	-0.196000	0.10366	0.374000	0.22700	ATT		0.537	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			24	175	0	0	0	1	0	24	175					C	51986322	T	C	51986322	3	2	48	1	0	0	0	0	1	0	0	0	3191	1493	52	4	926	4	CEACAM18	19	51986322	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	102556	51986322	7142661	4084	8552										
HAS1	3036	broad.mit.edu	37	chr19	52216986	52216986	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcatggtgactagcgccagGaacttggcaggcaggaggcc	15	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52216986G>A	ENST00000222115.1	-	5	1465	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	HAS1_ENST00000601714.1_Silent_p.F484F|HAS1_ENST00000540069.2_Silent_p.F476F	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	477					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTAGCGCCAGGAACTTGGCAG	0.692																																					NSCLC(132;636 2450 45807 47979)	ENST00000540069.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(1426-1428)ttC>ttT		hyaluronan synthase 1							12	10	11					19																	52216986		2093	4134	6227	SO:0001819	synonymous_variant	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52216986G>A	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1431C>T	19.37:g.52216986G>A			Somatic				HAS1_ENST00000222115.1_Silent_p.F477F|HAS1_ENST00000601714.1_Silent_p.F484F	p.F476F			WXS	Illumina GAIIx	Phase_I	Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1488	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	477					Q14470|Q9NS49	Silent	SNP	ENST00000222115.1	37	c.1428C>T	CCDS12838.1																																																																																				0.692	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		8	14	0	0	0	1	0	8	14					A	52216986	G	A	52216986	2	1	48	1	0	0	0	0	0	0	0	1	6970	1165	41	3		3	HAS1	19	52216986	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	230664	52216986	6911997	4085	8553										
FPR2	2358	broad.mit.edu	37	chr19	52271959	52271959	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatgaatatgaagaagtgtcCtatgagtctgctggctacac	10	7	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52271959C>A	ENST00000598776.1	+	2	820	c.48C>A	c.(46-48)tcC>tcA	p.S16S	FPR2_ENST00000340023.6_Silent_p.S16S|FPR2_ENST00000598953.1_Silent_p.S16S	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	16					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						AAGAAGTGTCCTATGAGTCTG	0.517																																						ENST00000598776.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(46-48)tcC>tcA		formyl peptide receptor 2							158	134	142					19																	52271959		2203	4300	6503	SO:0001819	synonymous_variant	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52271959C>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.48C>A	19.37:g.52271959C>A			Somatic				FPR2_ENST00000340023.6_Silent_p.S16S|FPR2_ENST00000598953.1_Silent_p.S16S	p.S16S	NM_001462.3	NP_001453.1	WXS	Illumina GAIIx	Phase_I	P25090	FPR2_HUMAN			2	820	+			16					A8K3E2	Silent	SNP	ENST00000598776.1	37	c.48C>A	CCDS12840.1																																																																																				0.517	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		24	50	1	0	4.4004e-07	1	5.01286e-07	24	50					A	52271959	C	A	52271959	2	1	48	1	0	0	0	0	0	0	0	1	6047	668	24	5		5	FPR2	19	52271959	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	54973	52271959	6857024	4086	8554										
FPR3	2359	broad.mit.edu	37	chr19	52327920	52327920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctctacgtctttatgggtCgtaacttccaagaaagactg	8	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52327920C>T	ENST00000339223.4	+	2	1098	c.919C>T	c.(919-921)Cgt>Tgt	p.R307C	FPR3_ENST00000595991.1_Missense_Mutation_p.R307C	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	307					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTTTATGGGTCGTAACTTCCA	0.473																																						ENST00000339223.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(919-921)Cgt>Tgt		formyl peptide receptor 3							133	128	130					19																	52327920		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327920C>T		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"GPCR / Class A : Formyl peptide receptors"	3828	protein-coding gene	gene with protein product		136539	"formyl peptide receptor-like 2"	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.919C>T	19.37:g.52327920C>T	ENSP00000341821:p.Arg307Cys		Somatic				FPR3_ENST00000595991.1_Missense_Mutation_p.R307C	p.R307C	NM_002030.3	NP_002021.3	WXS	Illumina GAIIx	Phase_I	P25089	FPR3_HUMAN			2	1098	+			307						Missense_Mutation	SNP	ENST00000339223.4	37	c.919C>T	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	9.794	1.178663	0.21787	.	.	ENSG00000187474	ENST00000339223	T	0.40225	1.04	2.34	1.27	0.21489	.	0.818789	0.10312	N	0.689855	T	0.46367	0.1389	L	0.49126	1.545	0.20926	N	0.99983	D	0.65815	0.995	P	0.53450	0.726	T	0.32025	-0.9922	10	0.87932	D	0	.	6.9098	0.24329	0.4946:0.5054:0.0:0.0	.	307	P25089	FPR3_HUMAN	C	307	ENSP00000341821:R307C	ENSP00000341821:R307C	R	+	1	0	FPR3	57019732	0.000000	0.05858	0.010000	0.14722	0.004000	0.04260	0.525000	0.22956	0.329000	0.23460	-0.708000	0.03648	CGT		0.473	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		33	61	0	0	0	1	0	33	61					T	52327920	C	T	52327920	3	4	48	1	0	0	0	0	1	0	0	0	6048	884	31	1	921	1	FPR3	19	52327920	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	55961	52327920	6801063	4087	8555										
ZNF614	80110	broad.mit.edu	37	chr19	52519497	52519497	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attgcattcatagggtttttCtcctgtatgagttcgctgat	9	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52519497C>A	ENST00000270649.6	-	5	1898	c.1354G>T	c.(1354-1356)Gaa>Taa	p.E452*	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TAGGGTTTTTCTCCTGTATGA	0.403																																						ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1354-1356)Gaa>Taa		zinc finger protein 614							114	110	111					19																	52519497		2203	4300	6503	SO:0001587	stop_gained	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52519497C>A	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"Zinc fingers, C2H2-type", "-"	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.1354G>T	19.37:g.52519497C>A	ENSP00000270649:p.Glu452*		Somatic				ZNF614_ENST00000356322.6_Intron	p.E452*	NM_025040.3	NP_079316.2	WXS	Illumina GAIIx	Phase_I	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1898	-		all_neural(266;0.0505)	452					Q494T8|Q8TCF4|Q9BSN8	Nonsense_Mutation	SNP	ENST00000270649.6	37	c.1354G>T	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	C	41	8.957801	0.99016	.	.	ENSG00000142556	ENST00000270649	.	.	.	3.5	3.5	0.40072	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.9511	0.64118	0.0:1.0:0.0:0.0	.	.	.	.	X	452	.	ENSP00000270649:E452X	E	-	1	0	ZNF614	57211309	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.009000	0.63998	1.772000	0.52199	0.563000	0.77884	GAA		0.403	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		43	75	1	0	2.19962e-31	1	3.1472e-31	43	75					A	52519497	C	A	52519497	4	1	48	1	0	0	0	0	0	1	0	0	18054	922	32	2	407	2	ZNF614	19	52519497	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	191577	52519497	6609486	4088	8556										
ZNF841	284371	broad.mit.edu	37	chr19	52569565	52569565	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacagttagtaatgagccccAattaaaggctttgccacatt	7	9	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52569565A>C	ENST00000426391.2	-	5	1773	c.1222T>G	c.(1222-1224)Tgg>Ggg	p.W408G	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.W524G|ZNF841_ENST00000389534.4_Missense_Mutation_p.W524G|CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000359973.2_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	408					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						AATGAGCCCCAATTAAAGGCT	0.403																																						ENST00000389534.4																			0				breast(1)|endometrium(4)|kidney(3)|lung(3)	11						c.(1570-1572)Tgg>Ggg		zinc finger protein 841							95	86	89					19																	52569565		692	1591	2283	SO:0001583	missense	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52569565A>C	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.1222T>G	19.37:g.52569565A>C	ENSP00000415453:p.Trp408Gly		Somatic				ZNF841_ENST00000426391.2_Missense_Mutation_p.W408G|ZNF841_ENST00000359973.2_Intron|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.W524G	p.W524G	NM_001136499.1	NP_001129971.1	WXS	Illumina GAIIx	Phase_I	Q6ZN19	ZN841_HUMAN			7	2029	-			408					B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37	c.1570T>G		.	.	.	.	.	.	.	.	.	.	A	8.148	0.786708	0.16189	.	.	ENSG00000197608	ENST00000389534;ENST00000426391	T;T	0.36157	1.27;1.27	1.84	-3.68	0.04463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15435	0.0372	N	0.12920	0.275	0.09310	N	1	B;P	0.39216	0.187;0.664	B;B	0.38562	0.152;0.276	T	0.10474	-1.0628	9	0.26408	T	0.33	.	0.9805	0.01435	0.2551:0.1753:0.3951:0.1745	.	524;408	Q6ZN19-3;Q6ZN19	.;ZN841_HUMAN	G	524;408	ENSP00000374185:W524G;ENSP00000415453:W408G	ENSP00000374185:W524G	W	-	1	0	ZNF841	57261377	0.000000	0.05858	0.000000	0.03702	0.884000	0.51177	-4.934000	0.00168	-1.276000	0.02414	0.254000	0.18369	TGG		0.403	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		11	23	0	0	0	1	0	11	23					C	52569565	A	C	52569565	3	2	48	1	0	0	0	0	1	0	0	0	18204	130	5	4	1208	4	ZNF841	19	52569565	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	50068	52569565	6559418	4089	8557										
ZNF616	90317	broad.mit.edu	37	chr19	52619047	52619047	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttctcgccggtatgaattCtccaatgcactgcaagatgt	8	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52619047C>A	ENST00000600228.1	-	4	1631	c.1370G>T	c.(1369-1371)aGa>aTa	p.R457I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	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)|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)		GGTATGAATTCTCCAATGCAC	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.(1369-1371)aGa>aTa		zinc finger protein 616							156	139	144					19																	52619047		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619047C>A	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.1370G>T	19.37:g.52619047C>A	ENSP00000471000:p.Arg457Ile		Somatic				ZNF616_ENST00000330123.5_3'UTR	p.R457I	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	1631	-			457					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1370G>T	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.253457	0.22965	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-2.15	0.07102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32164	0.0820	L	0.45581	1.43	0.09310	N	1	P	0.50272	0.933	P	0.50708	0.648	T	0.15549	-1.0433	8	0.52906	T	0.07	.	0.119	0.00063	0.2989:0.253:0.1574:0.2907	.	457	Q08AN1	ZN616_HUMAN	I	457	.	ENSP00000328722:R457I	R	-	2	0	ZNF616	57310859	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-5.295000	0.00134	-1.502000	0.01814	-0.680000	0.03767	AGA		0.403	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		37	60	1	0	2.38352e-08	1	2.80976e-08	37	60					A	52619047	C	A	52619047	3	1	48	1	0	0	0	0	1	0	0	0	18056	913	32	2	979	2	ZNF616	19	52619047	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	49482	52619047	6509936	4090	8558										
ZNF836	162962	broad.mit.edu	37	chr19	52660432	52660432	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaactgttattaactgtcttCtcagattggttacactcata	6	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52660432C>A	ENST00000322146.8	-	5	1025	c.504G>T	c.(502-504)gaG>gaT	p.E168D	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.E168D	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	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(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TAACTGTCTTCTCAGATTGGT	0.343																																						ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(502-504)gaG>gaT		zinc finger protein 836							61	58	59					19																	52660432		1918	4136	6054	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52660432C>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.504G>T	19.37:g.52660432C>A	ENSP00000325038:p.Glu168Asp		Somatic				CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.E168D	p.E168D	NM_001102657.1	NP_001096127.1	WXS	Illumina GAIIx	Phase_I	Q6ZNA1	ZN836_HUMAN			5	1025	-			168						Missense_Mutation	SNP	ENST00000322146.8	37	c.504G>T	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	C	8.769	0.925437	0.18056	.	.	ENSG00000196267	ENST00000322146	T	0.07908	3.15	1.95	-0.803	0.10886	.	.	.	.	.	T	0.06234	0.0161	L	0.47716	1.5	0.09310	N	1	P	0.38195	0.622	B	0.32762	0.152	T	0.32402	-0.9908	9	0.40728	T	0.16	.	4.5411	0.12058	0.0:0.6036:0.2301:0.1662	.	168	Q6ZNA1	ZN836_HUMAN	D	168	ENSP00000325038:E168D	ENSP00000325038:E168D	E	-	3	2	ZNF836	57352244	0.000000	0.05858	0.009000	0.14445	0.007000	0.05969	-0.643000	0.05421	0.168000	0.19655	0.549000	0.68633	GAG		0.343	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		3	9	1	0	0.004672	1	0.00483628	3	9					A	52660432	C	A	52660432	3	1	48	1	0	0	0	0	1	0	0	0	18202	912	32	2	2308	2	ZNF836	19	52660432	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	41385	52660432	6468551	4091	8559										
PPP2R1A	5518	broad.mit.edu	37	chr19	52705261	52705261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttggggttgaaaggacccGaagtgagcttctgcctttcc	12	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52705261G>A	ENST00000322088.6	+	2	201	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.E27K|PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	48	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GAAAGGACCCGAAGTGAGCTT	0.512			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(142-144)cGa>cAa		protein phosphatase 2, regulatory subunit A, alpha							81	76	78					19																	52705261		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52705261G>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.143G>A	19.37:g.52705261G>A	ENSP00000324804:p.Arg48Gln		Somatic				PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.E27K|PPP2R1A_ENST00000473455.2_3'UTR	p.R48Q	NM_014225.5	NP_055040.2	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	2	201	+			48			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.143G>A	CCDS12849.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.046680|4.046680	0.75846|0.75846	.|.	.|.	ENSG00000105568|ENSG00000105568	ENST00000391791;ENST00000444322|ENST00000454220;ENST00000423369;ENST00000322088	.|T;T	.|0.32753	.|1.44;1.44	4.49|4.49	3.45|3.45	0.39498|0.39498	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.113265	.|0.37530	.|N	.|0.002057	T|T	0.43722|0.43722	0.1260|0.1260	H|H	0.94345|0.94345	3.525|3.525	0.48087|0.48087	D|D	0.999587|0.999587	B|D;D	0.27656|0.58970	0.184|0.984;0.984	B|B;B	0.25140|0.40982	0.058|0.345;0.345	T|T	0.61272|0.61272	-0.7096|-0.7096	8|10	0.62326|0.66056	D|D	0.03|0.02	-9.5159|-9.5159	10.5862|10.5862	0.45284|0.45284	0.0953:0.0:0.9047:0.0|0.0953:0.0:0.9047:0.0	.|.	27|48;48	F5H3X9|A8K7B7;P30153	.|.;2AAA_HUMAN	K|Q	27|88;48;48	.|ENSP00000391905:R88Q;ENSP00000324804:R48Q	ENSP00000375668:E27K|ENSP00000324804:R48Q	E|R	+|+	1|2	0|0	PPP2R1A|PPP2R1A	57397073|57397073	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.689000|0.689000	0.40095|0.40095	8.259000|8.259000	0.89855|0.89855	1.250000|1.250000	0.43966|0.43966	-0.152000|-0.152000	0.13540|0.13540	GAA|CGA		0.512	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		16	22	0	0	0	1	0	16	22					A	52705261	G	A	52705261	3	1	48	1	0	0	0	0	1	0	0	0	12394	1058	37	1	149	1	PPP2R1A	19	52705261	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	44829	52705261	6423722	4092	8560										
ZNF528	84436	broad.mit.edu	37	chr19	52918955	52918955	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctttcgaagcagttcaaagCttgcacaacatcaaagaatt	6	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52918955C>A	ENST00000360465.3	+	7	1276	c.850C>A	c.(850-852)Ctt>Att	p.L284I	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CAGTTCAAAGCTTGCACAACA	0.378																																						ENST00000360465.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(850-852)Ctt>Att		zinc finger protein 528							93	98	96					19																	52918955		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52918955C>A	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.850C>A	19.37:g.52918955C>A	ENSP00000353652:p.Leu284Ile		Somatic				ZNF528_ENST00000391788.2_3'UTR	p.L284I	NM_032423.2	NP_115799.2	WXS	Illumina GAIIx	Phase_I	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1276	+			284					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.850C>A	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976813	0.34848	.	.	ENSG00000167555	ENST00000360465	T	0.53857	0.6	1.99	0.845	0.18950	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69015	0.3064	M	0.84511	2.7	0.09310	N	1	D	0.69078	0.997	D	0.91635	0.999	T	0.55373	-0.8151	9	0.66056	D	0.02	.	4.0128	0.09631	0.2357:0.6169:0.0:0.1474	.	284	Q3MIS6	ZN528_HUMAN	I	284	ENSP00000353652:L284I	ENSP00000353652:L284I	L	+	1	0	ZNF528	57610767	0.085000	0.21516	0.000000	0.03702	0.001000	0.01503	0.673000	0.25203	0.137000	0.18759	0.591000	0.81541	CTT		0.378	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		26	57	1	0	1.1804e-14	1	1.54286e-14	26	57					A	52918955	C	A	52918955	3	1	48	1	0	0	0	0	1	0	0	0	17984	797	28	5	864	5	ZNF528	19	52918955	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	213694	52918955	6210028	4093	8561										
ZNF808	388558	broad.mit.edu	37	chr19	53057257	53057257	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acacctttcacgccatcaaaGacttcatactggagtgaaac	6	12	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53057257G>T	ENST00000359798.4	+	5	1268	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	363					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.R363T(1)		endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CGCCATCAAAGACTTCATACT	0.383																																						ENST00000359798.4																			1	Substitution - Missense(1)	p.R363T(1)	urinary_tract(1)	endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(1087-1089)aGa>aTa		zinc finger protein 808							96	101	99					19																	53057257		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53057257G>T	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1088G>T	19.37:g.53057257G>T	ENSP00000352846:p.Arg363Ile		Somatic					p.R363I	NM_001039886.3	NP_001034975.2	WXS	Illumina GAIIx	Phase_I	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	1268	+			363					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.1088G>T	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	12.57	1.978651	0.34942	.	.	ENSG00000198482	ENST00000359798	T	0.24908	1.83	1.5	0.0709	0.14380	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33440	0.0863	M	0.67397	2.05	0.33613	D	0.603762	D	0.55172	0.97	P	0.54759	0.76	T	0.50154	-0.8861	9	0.51188	T	0.08	.	4.0964	0.09993	0.1821:0.247:0.5709:0.0	.	363	Q8N4W9	ZN808_HUMAN	I	363	ENSP00000352846:R363I	ENSP00000352846:R363I	R	+	2	0	ZNF808	57749069	0.000000	0.05858	0.052000	0.19188	0.063000	0.16089	-4.040000	0.00307	0.798000	0.33994	0.195000	0.17529	AGA		0.383	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		6	96	1	0	0.00198382	1	0.00207034	6	96					T	53057257	G	T	53057257	3	4	48	1	0	0	0	0	1	0	0	0	18188	942	33	2	1098	2	ZNF808	19	53057257	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	138302	53057257	6071726	4094	8562										
ZNF28	7576	broad.mit.edu	37	chr19	53303889	53303889	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtttctctccagtatgaatCctcttatgtctttcaagatg	7	9	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53303889C>T	ENST00000457749.2	-	4	1328	c.1209G>A	c.(1207-1209)agG>agA	p.R403R	ZNF28_ENST00000438150.2_Silent_p.R350R|ZNF28_ENST00000360272.4_Silent_p.R350R|ZNF28_ENST00000414252.2_Silent_p.R350R	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	403				R -> T (in Ref. 1; BAD18706 and 2; CAI46258). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CAGTATGAATCCTCTTATGTC	0.373																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1048-1050)agG>agA		zinc finger protein 28							105	111	109					19																	53303889		2203	4300	6503	SO:0001819	synonymous_variant	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303889C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1209G>A	19.37:g.53303889C>T			Somatic				ZNF28_ENST00000414252.2_Silent_p.R350R|ZNF28_ENST00000457749.2_Silent_p.R403R|ZNF28_ENST00000360272.4_Silent_p.R350R	p.R350R			WXS	Illumina GAIIx	Phase_I	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1943	-			403					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Silent	SNP	ENST00000457749.2	37	c.1050G>A	CCDS33093.2																																																																																				0.373	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		41	83	0	0	0	1	0	41	83					T	53303889	C	T	53303889	2	4	48	1	0	0	0	0	0	0	0	1	17828	854	30	3		3	ZNF28	19	53303889	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	246632	53303889	5825094	4095	8563										
ZNF816A	125893	broad.mit.edu	37	chr19	53454211	53454211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgacatctatgatgatataCaatgtattgcttctgattaa	7	5	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53454211C>T	ENST00000357666.4	-	5	1117	c.817G>A	c.(817-819)Gta>Ata	p.V273I	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.V273I|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	273					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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						TGATGATATACAATGTATTGC	0.383																																						ENST00000357666.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(817-819)Gta>Ata		zinc finger protein 816							132	125	127					19																	53454211		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454211C>T	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.817G>A	19.37:g.53454211C>T	ENSP00000350295:p.Val273Ile		Somatic				ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.V273I|ZNF816_ENST00000434371.2_Intron	p.V273I	NM_001031665.2	NP_001026835.1	WXS	Illumina GAIIx	Phase_I	Q0VGE8	ZN816_HUMAN			5	1117	-			273					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.817G>A	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	9.006	0.981197	0.18812	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.14766	2.48;2.48	1.47	-2.06	0.07298	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05318	0.0141	N	0.02876	-0.465	0.28249	N	0.925359	B	0.28783	0.222	B	0.37780	0.258	T	0.43605	-0.9381	9	0.22706	T	0.39	.	2.5117	0.04658	0.2283:0.4559:0.0:0.3158	.	273	Q0VGE8	ZN816_HUMAN	I	273	ENSP00000350295:V273I;ENSP00000403266:V273I	ENSP00000350295:V273I	V	-	1	0	ZNF816	58146023	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	-3.584000	0.00423	-0.639000	0.05502	0.194000	0.17425	GTA		0.383	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		31	75	0	0	0	1	0	31	75					T	53454211	C	T	53454211	3	4	48	1	0	0	0	0	1	0	0	0	18192	478	17	3	1142	3	ZNF816A	19	53454211	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	150322	53454211	5674772	4096	8564										
ZNF816A	125893	broad.mit.edu	37	chr19	53454447	53454447	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttgagcctacaagaaattCtttgggattctgaagctgag	10	6	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53454447C>A	ENST00000357666.4	-	5	881	c.581G>T	c.(580-582)aGa>aTa	p.R194I	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.R194I|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	194					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.R194I(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ACAAGAAATTCTTTGGGATTC	0.373																																						ENST00000357666.4																			1	Substitution - Missense(1)	p.R194I(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(580-582)aGa>aTa		zinc finger protein 816							81	95	91					19																	53454447		2202	4300	6502	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454447C>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.581G>T	19.37:g.53454447C>A	ENSP00000350295:p.Arg194Ile		Somatic				ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.R194I|ZNF816_ENST00000434371.2_Intron	p.R194I	NM_001031665.2	NP_001026835.1	WXS	Illumina GAIIx	Phase_I	Q0VGE8	ZN816_HUMAN			5	881	-			194					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.581G>T	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	7.988	0.752568	0.15778	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.06142	3.34;3.34	1.58	-1.63	0.08345	.	.	.	.	.	T	0.07143	0.0181	M	0.72624	2.21	0.09310	N	1	B	0.22276	0.067	B	0.15052	0.012	T	0.37549	-0.9701	9	0.66056	D	0.02	.	2.1508	0.03799	0.2991:0.4872:0.0:0.2137	.	194	Q0VGE8	ZN816_HUMAN	I	194	ENSP00000350295:R194I;ENSP00000403266:R194I	ENSP00000350295:R194I	R	-	2	0	ZNF816	58146259	0.000000	0.05858	0.003000	0.11579	0.026000	0.11368	-0.985000	0.03751	-0.560000	0.06102	0.185000	0.17295	AGA		0.373	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		37	76	1	0	1.57351e-24	1	2.20921e-24	37	76					A	53454447	C	A	53454447	3	1	48	1	0	0	0	0	1	0	0	0	18192	913	32	2	1378	2	ZNF816A	19	53454447	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	236	53454447	5674536	4097	8565										
ZNF160	90338	broad.mit.edu	37	chr19	53578315	53578315	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaagtcatcctcacccagaGaaacaaggttccagtagttc	8	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53578315G>A	ENST00000429604.1	-	5	552	c.137C>T	c.(136-138)tCt>tTt	p.S46F	ZNF160_ENST00000355147.5_Missense_Mutation_p.S46F|ZNF160_ENST00000599056.1_Missense_Mutation_p.S46F|ZNF160_ENST00000599729.1_5'Flank|ZNF160_ENST00000601421.1_Missense_Mutation_p.S10F|ZNF160_ENST00000418871.1_Missense_Mutation_p.S46F	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)		CTCACCCAGAGAAACAAGGTT	0.483																																						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.(28-30)tCt>tTt		zinc finger protein 160							140	124	130					19																	53578315		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53578315G>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.137C>T	19.37:g.53578315G>A	ENSP00000406201:p.Ser46Phe		Somatic				ZNF160_ENST00000599056.1_Missense_Mutation_p.S46F|ZNF160_ENST00000429604.1_Missense_Mutation_p.S46F|ZNF160_ENST00000355147.5_Missense_Mutation_p.S46F|ZNF160_ENST00000418871.1_Missense_Mutation_p.S46F	p.S10F			WXS	Illumina GAIIx	Phase_I	Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	1	905	-			46			KRAB.		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.29C>T	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	9.766	1.171417	0.21621	.	.	ENSG00000170949	ENST00000429604;ENST00000418871;ENST00000355147	T;T;T	0.03181	4.02;4.02;4.02	2.46	1.39	0.22231	Krueppel-associated box (4);	.	.	.	.	T	0.09468	0.0233	M	0.62266	1.93	0.09310	N	1	P;D	0.69078	0.84;0.997	P;D	0.83275	0.524;0.996	T	0.09292	-1.0681	9	0.02654	T	1	.	6.6194	0.22794	0.1505:0.0:0.8495:0.0	.	46;46	Q9BVY9;Q9HCG1	.;ZN160_HUMAN	F	46	ENSP00000406201:S46F;ENSP00000409597:S46F;ENSP00000347273:S46F	ENSP00000347273:S46F	S	-	2	0	ZNF160	58270127	0.009000	0.17119	0.039000	0.18376	0.926000	0.56050	1.297000	0.33400	0.353000	0.24079	0.462000	0.41574	TCT		0.483	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		42	72	0	0	0	1	0	42	72					A	53578315	G	A	53578315	3	1	48	1	0	0	0	0	1	0	0	0	17754	942	33	3	2331	3	ZNF160	19	53578315	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	123868	53578315	5550668	4098	8566										
ZNF347	84671	broad.mit.edu	37	chr19	53644730	53644730	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtaaggcttttctccggtgtGaattaccagatgaatagcta	10	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53644730G>T	ENST00000334197.7	-	5	1419	c.1351C>A	c.(1351-1353)Cac>Aac	p.H451N	ZNF347_ENST00000601469.2_Missense_Mutation_p.H452N|ZNF347_ENST00000452676.2_Missense_Mutation_p.H452N|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCTCCGGTGTGAATTACCAGA	0.438																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1354-1356)Cac>Aac		zinc finger protein 347							141	140	141					19																	53644730		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644730G>T	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.1351C>A	19.37:g.53644730G>T	ENSP00000334146:p.His451Asn		Somatic				ZNF347_ENST00000601469.2_Missense_Mutation_p.H452N|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.H451N	p.H452N	NM_001172674.1	NP_001166145.1	WXS	Illumina GAIIx	Phase_I	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1780	-			451					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.1354C>A	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374176	0.61735	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.67345	-0.26;-0.26	2.43	2.43	0.29744	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84083	0.5394	M	0.92268	3.29	0.34701	D	0.72675	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.977	D	0.89936	0.4069	9	0.87932	D	0	.	11.9768	0.53096	0.0:0.0:1.0:0.0	.	452;451	G5E9N4;Q96SE7	.;ZN347_HUMAN	N	451;452	ENSP00000334146:H451N;ENSP00000405218:H452N	ENSP00000334146:H451N	H	-	1	0	ZNF347	58336542	1.000000	0.71417	0.019000	0.16419	0.002000	0.02628	3.942000	0.56614	1.385000	0.46445	0.655000	0.94253	CAC		0.438	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		46	74	1	0	1.23713e-20	1	1.6975e-20	46	74					T	53644730	G	T	53644730	3	4	48	1	0	0	0	0	1	0	0	0	17876	1290	45	2	1172	2	ZNF347	19	53644730	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	66415	53644730	5484253	4099	8567										
VN1R2	317701	broad.mit.edu	37	chr19	53762110	53762110	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acattttgacaattattttgGatgcaaatttcttttgtatg	6	4	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53762110G>A	ENST00000341702.3	+	1	566	c.482G>A	c.(481-483)gGa>gAa	p.G161E		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	161					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.G161E(1)		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)		AATTATTTTGGATGCAAATTT	0.458																																						ENST00000341702.3																			1	Substitution - Missense(1)	p.G161E(1)	kidney(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(481-483)gGa>gAa		vomeronasal 1 receptor 2							52	54	54					19																	53762110		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762110G>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.482G>A	19.37:g.53762110G>A	ENSP00000351244:p.Gly161Glu		Somatic					p.G161E	NM_173856.2	NP_776255.2	WXS	Illumina GAIIx	Phase_I	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	566	+			161					A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.482G>A	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	9.223	1.033778	0.19590	.	.	ENSG00000196131	ENST00000341702	T	0.09163	3.01	2.93	0.728	0.18260	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.20536	0.0494	M	0.64630	1.985	0.09310	N	1	D	0.54601	0.967	P	0.58391	0.838	T	0.08166	-1.0735	9	0.51188	T	0.08	.	6.0541	0.19802	0.1178:0.1946:0.6876:0.0	.	161	Q8NFZ6	VN1R2_HUMAN	E	161	ENSP00000351244:G161E	ENSP00000351244:G161E	G	+	2	0	VN1R2	58453922	0.008000	0.16893	0.009000	0.14445	0.147000	0.21601	-0.364000	0.07583	0.299000	0.22661	0.590000	0.80494	GGA		0.458	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		18	33	0	0	0	1	0	18	33					A	53762110	G	A	53762110	3	1	48	1	0	0	0	0	1	0	0	0	17194	1174	41	3	484	3	VN1R2	19	53762110	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	117380	53762110	5366873	4100	8568										
VN1R2	317701	broad.mit.edu	37	chr19	53762646	53762646	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcacctacgtttatttagctCtcttcgataattccagttgg	6	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53762646C>A	ENST00000341702.3	+	1	1102	c.1018C>A	c.(1018-1020)Ctc>Atc	p.L340I	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	340					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)		TTATTTAGCTCTCTTCGATAA	0.463																																						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.(1018-1020)Ctc>Atc		vomeronasal 1 receptor 2							256	228	238					19																	53762646		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762646C>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.1018C>A	19.37:g.53762646C>A	ENSP00000351244:p.Leu340Ile		Somatic				VN1R2_ENST00000598458.1_Intron	p.L340I	NM_173856.2	NP_776255.2	WXS	Illumina GAIIx	Phase_I	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	1102	+			340					A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.1018C>A	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215548	0.39102	.	.	ENSG00000196131	ENST00000341702	T	0.39592	1.07	2.61	0.0492	0.14288	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.39989	0.1099	L	0.46157	1.445	0.09310	N	1	P	0.42248	0.774	P	0.48089	0.566	T	0.29058	-1.0024	9	0.56958	D	0.05	.	4.7776	0.13187	0.2134:0.423:0.3635:0.0	.	340	Q8NFZ6	VN1R2_HUMAN	I	340	ENSP00000351244:L340I	ENSP00000351244:L340I	L	+	1	0	VN1R2	58454458	0.000000	0.05858	0.002000	0.10522	0.391000	0.30476	-3.581000	0.00424	0.108000	0.17862	-0.278000	0.10074	CTC		0.463	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		51	98	1	0	6.08268e-21	1	8.37076e-21	51	98					A	53762646	C	A	53762646	3	1	48	1	0	0	0	0	1	0	0	0	17194	913	32	2	1020	2	VN1R2	19	53762646	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	536	53762646	5366337	4101	8569										
VN1R4	317703	broad.mit.edu	37	chr19	53770013	53770013	+	Nonstop_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgaggttaggagatcttgTcatcttttccaggcaaaaca	10	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53770013T>C	ENST00000311170.4	-	1	959	c.906A>G	c.(904-906)tgA>tgG	p.*302W	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	0					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GGAGATCTTGTCATCTTTTCC	0.388										HNSCC(26;0.072)																												ENST00000311170.4																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22						c.(904-906)tgA>tgG		vomeronasal 1 receptor 4							60	59	60					19																	53770013		2203	4300	6503	SO:0001578	stop_lost	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770013T>C	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.906A>G	19.37:g.53770013T>C	ENSP00000310856:p.*302Cysext*8	HNSCC(26;0.072)	Somatic					p.*302W	NM_173857.2	NP_776256.2	WXS	Illumina GAIIx	Phase_I	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	959	-			0					Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Nonstop_Mutation	SNP	ENST00000311170.4	37	c.906A>G	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	T	0.384	-0.927041	0.02377	.	.	ENSG00000228567	ENST00000311170	.	.	.	2.99	-2.86	0.05717	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7605	0.01006	0.3132:0.1112:0.1589:0.4167	.	.	.	.	W	302	.	.	X	-	3	0	VN1R4	58461825	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.859000	0.00348	-0.372000	0.07992	0.450000	0.29827	TGA		0.388	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		21	37	0	0	0	1	0	21	37					C	53770013	T	C	53770013	4	2	48	1	0	0	0	0	0	0	0	0	17195	1682	58	4	2	4	VN1R4	19	53770013	Nonstop_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	7367	53770013	5358970	4102	8570										
VN1R4	317703	broad.mit.edu	37	chr19	53770552	53770552	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaagccaacatgcttgggggCtttctctttaagttttgccc	9	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53770552C>A	ENST00000311170.4	-	1	420	c.367G>T	c.(367-369)Gcc>Tcc	p.A123S	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	123					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TGCTTGGGGGCTTTCTCTTTA	0.507										HNSCC(26;0.072)																												ENST00000311170.4																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22						c.(367-369)Gcc>Tcc		vomeronasal 1 receptor 4							53	40	44					19																	53770552		2203	4300	6503	SO:0001583	missense	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770552C>A	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.367G>T	19.37:g.53770552C>A	ENSP00000310856:p.Ala123Ser	HNSCC(26;0.072)	Somatic					p.A123S	NM_173857.2	NP_776256.2	WXS	Illumina GAIIx	Phase_I	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	420	-			123					Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	c.367G>T	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296712	0.23650	.	.	ENSG00000228567	ENST00000311170	T	0.32515	1.45	2.28	-0.129	0.13502	GPCR, rhodopsin-like superfamily (1);	0.470399	0.15836	N	0.242255	T	0.19087	0.0458	N	0.21142	0.635	0.09310	N	1	P	0.43431	0.807	B	0.43360	0.417	T	0.10268	-1.0637	10	0.56958	D	0.05	.	4.4329	0.11536	0.2198:0.6408:0.0:0.1394	.	123	Q7Z5H5	VN1R4_HUMAN	S	123	ENSP00000310856:A123S	ENSP00000310856:A123S	A	-	1	0	VN1R4	58462364	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.053000	0.14184	0.062000	0.16340	0.545000	0.68477	GCC		0.507	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		11	51	1	0	0.00136819	1	0.00143372	11	51					A	53770552	C	A	53770552	3	1	48	1	0	0	0	0	1	0	0	0	17195	797	28	5	541	5	VN1R4	19	53770552	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	539	53770552	5358431	4103	8571										
VN1R4	317703	broad.mit.edu	37	chr19	53770689	53770689	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaacaagtttgcacccaagaGcattgagaaaatatctaacc	6	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53770689G>T	ENST00000311170.4	-	1	283	c.230C>A	c.(229-231)gCt>gAt	p.A77D	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	77					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GCACCCAAGAGCATTGAGAAA	0.488										HNSCC(26;0.072)																												ENST00000311170.4																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22						c.(229-231)gCt>gAt		vomeronasal 1 receptor 4							39	38	38					19																	53770689		2203	4300	6503	SO:0001583	missense	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770689G>T	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.230C>A	19.37:g.53770689G>T	ENSP00000310856:p.Ala77Asp	HNSCC(26;0.072)	Somatic					p.A77D	NM_173857.2	NP_776256.2	WXS	Illumina GAIIx	Phase_I	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	283	-			77					Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	c.230C>A	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.043482	0.00398	.	.	ENSG00000228567	ENST00000311170	T	0.07688	3.17	2.35	1.29	0.21616	GPCR, rhodopsin-like superfamily (1);	0.527792	0.14412	N	0.321219	T	0.01092	0.0036	N	0.00038	-2.515	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.44772	-0.9306	10	0.02654	T	1	.	6.9095	0.24327	0.0:0.0:0.2535:0.7465	.	77	Q7Z5H5	VN1R4_HUMAN	D	77	ENSP00000310856:A77D	ENSP00000310856:A77D	A	-	2	0	VN1R4	58462501	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.308000	0.19314	0.342000	0.23796	-0.637000	0.03976	GCT		0.488	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		4	58	1	0	0.150653	1	0.151842	4	58					T	53770689	G	T	53770689	3	4	48	1	0	0	0	0	1	0	0	0	17195	971	34	5	678	5	VN1R4	19	53770689	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	137	53770689	5358294	4104	8572										
ZNF845	91664	broad.mit.edu	37	chr19	53848860	53848860	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacagggacgtgatgctggaGaattataggaacctggtctc	13	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53848860G>T	ENST00000595091.1	+	4	336	c.117G>T	c.(115-117)gaG>gaT	p.E39D	ZNF845_ENST00000458035.1_Missense_Mutation_p.E39D			Q96IR2	ZN845_HUMAN	zinc finger protein 845	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)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TGATGCTGGAGAATTATAGGA	0.463																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(115-117)gaG>gaT		zinc finger protein 845							58	65	63					19																	53848860		692	1589	2281	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53848860G>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.117G>T	19.37:g.53848860G>T	ENSP00000470005:p.Glu39Asp		Somatic				ZNF845_ENST00000595091.1_Missense_Mutation_p.E39D	p.E39D	NM_138374.1	NP_612383.1	WXS	Illumina GAIIx	Phase_I	Q96IR2	ZN845_HUMAN			3	234	+			39			KRAB.			Missense_Mutation	SNP	ENST00000595091.1	37	c.117G>T	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877230	0.33162	.	.	ENSG00000213799	ENST00000458035;ENST00000359916;ENST00000427984	T	0.03920	3.76	1.85	1.85	0.25348	Krueppel-associated box (4);	.	.	.	.	T	0.21227	0.0511	M	0.88310	2.945	0.22675	N	0.998868	P	0.49307	0.922	P	0.62298	0.9	T	0.01786	-1.1274	9	0.87932	D	0	.	9.4146	0.38514	0.0:0.0:1.0:0.0	.	39	Q96IR2	ZN845_HUMAN	D	39	ENSP00000388311:E39D	ENSP00000352990:E39D	E	+	3	2	ZNF845	58540672	1.000000	0.71417	0.627000	0.29227	0.233000	0.25261	4.546000	0.60705	1.048000	0.40298	0.134000	0.15878	GAG		0.463	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		54	113	1	0	7.34454e-26	1	1.03635e-25	54	113					T	53848860	G	T	53848860	3	4	48	1	0	0	0	0	1	0	0	0	18206	933	33	2	123	2	ZNF845	19	53848860	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	78171	53848860	5280123	4105	8573										
ZNF765	91661	broad.mit.edu	37	chr19	53911394	53911394	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctaatgactatgggaataatTtcctgaattcttcattattc	5	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53911394T>G	ENST00000396408.3	+	4	703	c.586T>G	c.(586-588)Ttc>Gtc	p.F196V	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TGGGAATAATTTCCTGAATTC	0.373																																						ENST00000396408.3																			0				endometrium(1)|lung(3)	4						c.(586-588)Ttc>Gtc		zinc finger protein 765							66	67	66					19																	53911394		2163	4275	6438	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53911394T>G	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"Zinc fingers, C2H2-type", "-"	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.586T>G	19.37:g.53911394T>G	ENSP00000379689:p.Phe196Val		Somatic				ZNF765_ENST00000594030.1_Intron	p.F196V	NM_001040185.1	NP_001035275.1	WXS	Illumina GAIIx	Phase_I	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	4	703	+			196					A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.586T>G	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	T	7.053	0.564765	0.13498	.	.	ENSG00000196417	ENST00000396408	T	0.41758	0.99	0.588	0.588	0.17445	.	.	.	.	.	T	0.47985	0.1475	M	0.92077	3.27	0.09310	N	1	B	0.27951	0.195	B	0.23419	0.046	T	0.48246	-0.9052	7	.	.	.	.	.	.	.	.	196	Q7L2R6	ZN765_HUMAN	V	196	ENSP00000379689:F196V	.	F	+	1	0	ZNF765	58603206	0.000000	0.05858	0.005000	0.12908	0.090000	0.18270	0.172000	0.16704	0.464000	0.27142	0.147000	0.16070	TTC		0.373	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		9	71	0	0	0	1	0	9	71					G	53911394	T	G	53911394	3	3	48	1	0	0	0	0	1	0	0	0	18154	1841	64	4	596	4	ZNF765	19	53911394	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	62534	53911394	5217589	4106	8574										
ZNF813	126017	broad.mit.edu	37	chr19	53989942	53989942	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctcaggaggagtggaaatgCctggaccctgctcagaggac	14	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53989942C>A	ENST00000396403.4	+	3	200	c.72C>A	c.(70-72)tgC>tgA	p.C24*	ZNF813_ENST00000396421.4_Nonsense_Mutation_p.C24*	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	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)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AGTGGAAATGCCTGGACCCTG	0.473																																						ENST00000396403.4																			0				large_intestine(1)	1						c.(70-72)tgC>tgA		zinc finger protein 813							59	66	64					19																	53989942		2193	4264	6457	SO:0001587	stop_gained	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53989942C>A	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.72C>A	19.37:g.53989942C>A	ENSP00000379684:p.Cys24*		Somatic				ZNF813_ENST00000396421.4_Nonsense_Mutation_p.C24*	p.C24*	NM_001004301.3	NP_001004301.2	WXS	Illumina GAIIx	Phase_I	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	3	200	+			24			KRAB.			Nonsense_Mutation	SNP	ENST00000396403.4	37	c.72C>A	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226200	0.58668	.	.	ENSG00000198346	ENST00000396403;ENST00000490956;ENST00000396421	.	.	.	1.05	1.05	0.20165	.	.	.	.	.	.	.	.	.	.	.	0.51767	A	0.999937	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.6727	0.05071	0.0:0.4639:0.3133:0.2227	.	.	.	.	X	24	.	ENSP00000379684:C24X	C	+	3	2	ZNF813	58681754	0.065000	0.20965	0.996000	0.52242	0.934000	0.57294	-0.098000	0.11024	0.549000	0.28973	0.388000	0.25769	TGC		0.473	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		32	109	1	0	9.39024e-22	1	1.29924e-21	32	109					A	53989942	C	A	53989942	4	1	48	1	0	0	0	0	0	1	0	0	18190	747	26	5	78	5	ZNF813	19	53989942	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	78548	53989942	5139041	4107	8575										
ZNF331	55422	broad.mit.edu	37	chr19	54080743	54080743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtgggaaggcctttactcGagtcaattaccttactcagc	9	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:54080743G>A	ENST00000253144.9	+	7	2262	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	ZNF331_ENST00000511593.2_Missense_Mutation_p.R310Q|ZNF331_ENST00000511154.1_Missense_Mutation_p.R310Q|ZNF331_ENST00000512387.1_Missense_Mutation_p.R310Q|ZNF331_ENST00000411977.2_Missense_Mutation_p.R310Q|ZNF331_ENST00000513999.1_Missense_Mutation_p.R310Q|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000449416.1_Missense_Mutation_p.R310Q	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	310					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)		GCCTTTACTCGAGTCAATTAC	0.473			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.(928-930)cGa>cAa		zinc finger protein 331							84	78	80					19																	54080743		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54080743G>A	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.929G>A	19.37:g.54080743G>A	ENSP00000253144:p.Arg310Gln		Somatic				ZNF331_ENST00000411977.2_Missense_Mutation_p.R310Q|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000513999.1_Missense_Mutation_p.R310Q|ZNF331_ENST00000449416.1_Missense_Mutation_p.R310Q|ZNF331_ENST00000511593.2_Missense_Mutation_p.R310Q|ZNF331_ENST00000512387.1_Missense_Mutation_p.R310Q|ZNF331_ENST00000511154.1_Missense_Mutation_p.R310Q	p.R310Q	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	2262	+			310					Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.929G>A	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	G	7.417	0.635838	0.14386	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19;3.19	3.91	3.91	0.45181	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34777	N	0.003695	T	0.03178	0.0093	N	0.04705	-0.18	0.09310	N	1	P	0.36222	0.544	B	0.18561	0.022	T	0.45614	-0.9249	10	0.14252	T	0.57	.	13.765	0.62990	0.0:0.0:1.0:0.0	.	310	Q9NQX6	ZN331_HUMAN	Q	310	ENSP00000253144:R310Q;ENSP00000427439:R310Q;ENSP00000393817:R310Q;ENSP00000393336:R310Q;ENSP00000421014:R310Q;ENSP00000423156:R310Q;ENSP00000421728:R310Q	ENSP00000253144:R310Q	R	+	2	0	ZNF331	58772555	0.000000	0.05858	0.192000	0.23308	0.270000	0.26580	-0.074000	0.11450	2.179000	0.69175	0.655000	0.94253	CGA		0.473	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		22	42	0	0	0	1	0	22	42					A	54080743	G	A	54080743	3	1	48	1	0	0	0	0	1	0	0	0	17864	1058	37	1	939	1	ZNF331	19	54080743	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	90801	54080743	5048240	4108	8576										
NLRP12	91662	broad.mit.edu	37	chr19	54327368	54327368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttcttcagttccacagcctCgagttcttccaagtaggtgg	9	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:54327368C>T	ENST00000324134.6	-	1	229	c.61G>A	c.(61-63)Gag>Aag	p.E21K	NLRP12_ENST00000345770.5_Missense_Mutation_p.E21K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E21K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E21K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E21K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E21K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E21K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E21K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	21	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				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)		TCCACAGCCTCGAGTTCTTCC	0.612																																						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.(61-63)Gag>Aag		NLR family, pyrin domain containing 12							55	53	54					19																	54327368		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.chr19:54327368C>T	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.61G>A	19.37:g.54327368C>T	ENSP00000319377:p.Glu21Lys		Somatic				NLRP12_ENST00000354278.3_Missense_Mutation_p.E21K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E21K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E21K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E21K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E21K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E21K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E21K	p.E21K	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)	1	229	-	Ovarian(34;0.19)		21			DAPIN.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.61G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640040	0.29157	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81	4.48	3.35	0.38373	Pyrin (2);DEATH-like (2);	0.168162	0.28109	N	0.016571	T	0.53318	0.1789	L	0.47190	1.495	0.21256	N	0.999744	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.61477	0.889;0.889;0.889;0.889	T	0.35450	-0.9788	10	0.35671	T	0.21	.	9.891	0.41290	0.0:0.7915:0.2085:0.0	.	21;21;21;21	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	K	21	ENSP00000319377:E21K;ENSP00000438030:E21K;ENSP00000340473:E21K;ENSP00000346231:E21K;ENSP00000375655:E21K;ENSP00000375653:E21K;ENSP00000375652:E21K	ENSP00000319377:E21K	E	-	1	0	NLRP12	59019180	0.600000	0.26899	0.587000	0.28692	0.209000	0.24338	1.432000	0.34936	2.224000	0.72417	0.305000	0.20034	GAG		0.612	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		31	40	0	0	0	1	0	31	40					T	54327368	C	T	54327368	3	4	48	1	0	0	0	0	1	0	0	0	10483	893	31	1	3260	1	NLRP12	19	54327368	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	246625	54327368	4801615	4109	8577										
CACNG7	59284	broad.mit.edu	37	chr19	54418757	54418757	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggcatcttcttcatactatCgggtgagcctaaggacttgg	11	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:54418757C>T	ENST00000391767.1	+	4	634	c.422C>T	c.(421-423)tCg>tTg	p.S141L	CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000222212.2_Missense_Mutation_p.S141L|CACNG7_ENST00000391766.1_Missense_Mutation_p.S141L			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	141					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)		TTCATACTATCGGGTGAGCCT	0.562																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(421-423)tCg>tTg		calcium channel, voltage-dependent, gamma subunit 7							93	85	88					19																	54418757		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.chr19:54418757C>T	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.422C>T	19.37:g.54418757C>T	ENSP00000375647:p.Ser141Leu		Somatic				CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.S141L|CACNG7_ENST00000222212.2_Missense_Mutation_p.S141L	p.S141L			WXS	Illumina GAIIx	Phase_I	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	4	634	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		141					Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	ENST00000391767.1	37	c.422C>T	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411317	0.62399	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.91068	-2.78;-2.78;-2.78	3.91	3.91	0.45181	.	0.225588	0.39083	N	0.001476	D	0.94138	0.8120	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.65573	0.936	D	0.94605	0.7799	10	0.87932	D	0	-6.3726	14.2221	0.65833	0.0:1.0:0.0:0.0	.	141	P62955	CCG7_HUMAN	L	141	ENSP00000375647:S141L;ENSP00000222212:S141L;ENSP00000375646:S141L	ENSP00000222212:S141L	S	+	2	0	CACNG7	59110569	1.000000	0.71417	0.058000	0.19502	0.453000	0.32348	7.180000	0.77674	2.469000	0.83416	0.563000	0.77884	TCG		0.562	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			16	25	0	0	0	1	0	16	25					T	54418757	C	T	54418757	3	4	48	1	0	0	0	0	1	0	0	0	2564	893	31	1	432	1	CACNG7	19	54418757	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	91389	54418757	4710226	4110	8578										
LILRA5	353514	broad.mit.edu	37	chr19	54823808	54823808	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgaggcttccaatctcaccGaggcagagcagaaccatgag	11	12	1	4	rs201892026		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:54823808G>A	ENST00000301219.3	-	2	206	c.87C>T	c.(85-87)ctC>ctT	p.L29L	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Splice_Site_p.L29L|LILRA5_ENST00000432233.3_Splice_Site_p.L29L|LILRA5_ENST00000446712.3_Splice_Site_p.L29L	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	29					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.L29L(1)		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)		CAATCTCACCGAGGCAGAGCA	0.602																																						ENST00000301219.3																			1	Substitution - coding silent(1)	p.L29L(1)	urinary_tract(1)	breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.e2+1		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5							53	44	47					19																	54823808		2203	4300	6503	SO:0001630	splice_region_variant	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54823808G>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.88+1C>T	19.37:g.54823808G>A			Somatic				AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Splice_Site_p.L29_splice|LILRA5_ENST00000432233.3_Splice_Site_p.L29_splice|LILRA5_ENST00000346508.3_Splice_Site_p.L29_splice	p.L29_splice	NM_021250.2	NP_067073.1	WXS	Illumina GAIIx	Phase_I	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	2	206	-	Ovarian(34;0.19)		29					A6NHI3	Splice_Site	SNP	ENST00000301219.3	37	c.88_splice	CCDS12888.1																																																																																				0.602	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985	Silent	14	49	0	0	0	1	0	14	49					A	54823808	G	A	54823808	5	1	48	1	0	0	0	0	0	0	1	0	8797	1072	37	1	922	1	LILRA5	19	54823808	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	405051	54823808	4305175	4111	8579										
LILRB1	10859	broad.mit.edu	37	chr19	55144057	55144057	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaacgtgacttccttcagctCgctggcgcacagccccaggc	11	16	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55144057C>T	ENST00000396331.1	+	7	1161	c.804C>T	c.(802-804)ctC>ctT	p.L268L	LILRB1_ENST00000418536.2_Silent_p.L268L|LILRB1_ENST00000396315.1_Silent_p.L268L|LILRB1_ENST00000396317.1_Silent_p.L268L|LILRB1_ENST00000448689.1_Silent_p.L268L|LILRB1_ENST00000427581.2_Silent_p.L304L|LILRB1_ENST00000396332.4_Silent_p.L268L|LILRB1_ENST00000396327.3_Silent_p.L268L|LILRB1_ENST00000324602.7_Silent_p.L268L|LILRB1_ENST00000434867.2_Silent_p.L268L|LILRB1_ENST00000396321.2_Silent_p.L268L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	268	Ig-like C2-type 3.				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)		TCCTTCAGCTCGCTGGCGCAC	0.612										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.(802-804)ctC>ctT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							87	90	89					19																	55144057		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144057C>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.804C>T	19.37:g.55144057C>T		HNSCC(37;0.09)	Somatic				LILRB1_ENST00000396321.2_Silent_p.L268L|LILRB1_ENST00000434867.2_Silent_p.L268L|LILRB1_ENST00000427581.2_Silent_p.L304L|LILRB1_ENST00000418536.2_Silent_p.L268L|LILRB1_ENST00000396317.1_Silent_p.L268L|LILRB1_ENST00000324602.7_Silent_p.L268L|LILRB1_ENST00000396332.4_Silent_p.L268L|LILRB1_ENST00000448689.1_Silent_p.L268L|LILRB1_ENST00000396315.1_Silent_p.L268L|LILRB1_ENST00000396327.3_Silent_p.L268L	p.L268L	NM_006669.3	NP_006660.3	WXS	Illumina GAIIx	Phase_I	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	7	1161	+			268			Ig-like C2-type 3.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.804C>T	CCDS42617.1																																																																																				0.612	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			36	77	0	0	0	1	0	36	77					T	55144057	C	T	55144057	2	4	48	1	0	0	0	0	0	0	0	1	8799	871	31	1		1	LILRB1	19	55144057	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	320249	55144057	3984926	4112	8580										
NLRP7	199713	broad.mit.edu	37	chr19	55449593	55449593	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgccgagcccagttcggaaTggttaggtaagtgcacctgc	13	11	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55449593T>G	ENST00000590030.1	-	4	1988	c.1948A>C	c.(1948-1950)Att>Ctt	p.I650L	NLRP7_ENST00000446217.1_Missense_Mutation_p.I678L|NLRP7_ENST00000592784.1_Missense_Mutation_p.I650L|NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000588756.1_Missense_Mutation_p.I650L|NLRP7_ENST00000340844.2_Missense_Mutation_p.I650L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	650							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)		CAGTTCGGAATGGTTAGGTAA	0.488																																						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.(2032-2034)Att>Ctt		NLR family, pyrin domain containing 7							86	81	82					19																	55449593		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55449593T>G	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.1948A>C	19.37:g.55449593T>G	ENSP00000465520:p.Ile650Leu		Somatic				NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000340844.2_Missense_Mutation_p.I650L|NLRP7_ENST00000592784.1_Missense_Mutation_p.I650L|NLRP7_ENST00000590030.1_Missense_Mutation_p.I650L|NLRP7_ENST00000588756.1_Missense_Mutation_p.I650L	p.I678L			WXS	Illumina GAIIx	Phase_I	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	7	2434	-			650					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.2032A>C	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.240052	0.00274	.	.	ENSG00000167634	ENST00000328092;ENST00000340844;ENST00000446217;ENST00000399724	T;T	0.50001	0.76;0.76	1.36	-1.08	0.09936	.	.	.	.	.	T	0.11922	0.0290	N	0.01048	-1.04	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	0.27905	-1.0060	9	0.02654	T	1	.	1.9637	0.03391	0.365:0.0:0.3671:0.2679	.	678;650;650	E7EPM2;Q32MH9;Q8WX94	.;.;NALP7_HUMAN	L	650;650;678;417	ENSP00000339491:I650L;ENSP00000414273:I678L	ENSP00000329568:I650L	I	-	1	0	NLRP7	60141405	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.033000	0.12246	-0.227000	0.09884	-1.444000	0.01066	ATT		0.488	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		30	60	0	0	0	1	0	30	60					G	55449593	T	G	55449593	3	3	48	1	0	0	0	0	1	0	0	0	10491	1464	51	4	1193	4	NLRP7	19	55449593	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	305536	55449593	3679390	4113	8581										
NLRP7	199713	broad.mit.edu	37	chr19	55450260	55450260	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaaaacagttcttacctttCaaattcaatgtccagttcaa	5	9	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55450260C>A	ENST00000590030.1	-	3	1967	c.1927G>T	c.(1927-1929)Gaa>Taa	p.E643*	NLRP7_ENST00000446217.1_Nonsense_Mutation_p.E671*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.E643*|NLRP7_ENST00000448121.2_Nonsense_Mutation_p.E643*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.E643*|NLRP7_ENST00000588756.1_Nonsense_Mutation_p.E643*|NLRP7_ENST00000340844.2_Nonsense_Mutation_p.E643*			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	643							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)		TCTTACCTTTCAAATTCAATG	0.483																																						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.(2011-2013)Gaa>Taa		NLR family, pyrin domain containing 7							88	83	85					19																	55450260		2203	4300	6503	SO:0001587	stop_gained	199713						ATP binding	g.chr19:55450260C>A	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.1927G>T	19.37:g.55450260C>A	ENSP00000465520:p.Glu643*		Somatic				NLRP7_ENST00000448121.2_Nonsense_Mutation_p.E643*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.E643*|NLRP7_ENST00000340844.2_Nonsense_Mutation_p.E643*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.E643*|NLRP7_ENST00000590030.1_Nonsense_Mutation_p.E643*|NLRP7_ENST00000588756.1_Nonsense_Mutation_p.E643*	p.E671*			WXS	Illumina GAIIx	Phase_I	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	2413	-			643					E9PE16|Q32MH8|Q7RTR1	Nonsense_Mutation	SNP	ENST00000590030.1	37	c.2011G>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923838	0.92319	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	.	.	.	1.92	1.92	0.25849	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	7.3493	0.26680	0.0:1.0:0.0:0.0	.	.	.	.	X	643;643;643;671;410	.	ENSP00000329568:E643X	E	-	1	0	NLRP7	60142072	0.000000	0.05858	0.097000	0.21041	0.016000	0.09150	0.290000	0.18975	1.384000	0.46424	0.462000	0.41574	GAA		0.483	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		30	77	1	0	5.60225e-13	1	7.13348e-13	30	77					A	55450260	C	A	55450260	4	1	48	1	0	0	0	0	0	1	0	0	10491	835	29	2	1218	2	NLRP7	19	55450260	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	667	55450260	3678723	4114	8582										
NLRP7	199713	broad.mit.edu	37	chr19	55451265	55451265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgcgccaggagctggaggtCcctcagtgccctgggccgcg	16	15	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55451265C>T	ENST00000590030.1	-	3	962	c.922G>A	c.(922-924)Gac>Aac	p.D308N	NLRP7_ENST00000446217.1_Missense_Mutation_p.D336N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D308N|NLRP7_ENST00000448121.2_Missense_Mutation_p.D308N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D308N|NLRP7_ENST00000588756.1_Missense_Mutation_p.D308N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D308N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	308	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)		AGCTGGAGGTCCCTCAGTGCC	0.617																																						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.(1006-1008)Gac>Aac		NLR family, pyrin domain containing 7							40	40	40					19																	55451265		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55451265C>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.922G>A	19.37:g.55451265C>T	ENSP00000465520:p.Asp308Asn		Somatic				NLRP7_ENST00000448121.2_Missense_Mutation_p.D308N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D308N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D308N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D308N|NLRP7_ENST00000590030.1_Missense_Mutation_p.D308N|NLRP7_ENST00000588756.1_Missense_Mutation_p.D308N	p.D336N			WXS	Illumina GAIIx	Phase_I	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1408	-			308			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1006G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980765	0.53827	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	1.77	1.77	0.24775	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.74989	0.3789	N	0.20530	0.585	0.09310	N	1	D;D;D;D	0.60160	0.987;0.976;0.987;0.983	P;P;P;P	0.60286	0.872;0.872;0.872;0.798	T	0.63871	-0.6539	9	0.56958	D	0.05	.	9.5487	0.39297	0.0:1.0:0.0:0.0	.	336;308;308;308	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	N	308;308;308;336	ENSP00000329568:D308N;ENSP00000409137:D308N;ENSP00000339491:D308N;ENSP00000414273:D336N	ENSP00000329568:D308N	D	-	1	0	NLRP7	60143077	0.000000	0.05858	0.013000	0.15412	0.026000	0.11368	0.315000	0.19451	1.285000	0.44548	0.462000	0.41574	GAC		0.617	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		17	27	0	0	0	1	0	17	27					T	55451265	C	T	55451265	3	4	48	1	0	0	0	0	1	0	0	0	10491	855	30	3	2223	3	NLRP7	19	55451265	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1005	55451265	3677718	4115	8583										
TNNT1	7138	broad.mit.edu	37	chr19	55649407	55649407	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcatcatcctctgcccgcttCttggcctcttcctcttcctt	5	18	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55649407C>A	ENST00000588981.1	-	10	627	c.423G>T	c.(421-423)aaG>aaT	p.K141N	TNNT1_ENST00000291901.8_Missense_Mutation_p.K141N|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000588426.1_Missense_Mutation_p.K38N|TNNT1_ENST00000585321.2_Missense_Mutation_p.K71N|TNNT1_ENST00000587465.2_Missense_Mutation_p.K71N|TNNT1_ENST00000536926.1_Missense_Mutation_p.K130N|TNNT1_ENST00000356783.5_Missense_Mutation_p.K130N|TNNT1_ENST00000587758.1_Missense_Mutation_p.K130N	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	141					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CTGCCCGCTTCTTGGCCTCTT	0.572																																						ENST00000588981.1																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)	10						c.(421-423)aaG>aaT		troponin T type 1 (skeletal, slow)							200	173	182					19																	55649407		2203	4300	6503	SO:0001583	missense	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55649407C>A		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"slow skeletal muscle troponin T", "troponin T1, skeletal, slow", "nemaline myopathy type 5"	191041	"troponin T1, skeletal, slow"			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.423G>T	19.37:g.55649407C>A	ENSP00000467176:p.Lys141Asn		Somatic				TNNT1_ENST00000585321.2_Missense_Mutation_p.K71N|TNNT1_ENST00000291901.8_Missense_Mutation_p.K141N|TNNT1_ENST00000588426.1_Missense_Mutation_p.K38N|TNNT1_ENST00000356783.5_Missense_Mutation_p.K130N|TNNT1_ENST00000536926.1_Missense_Mutation_p.K130N|TNNT1_ENST00000587465.2_Missense_Mutation_p.K71N|TNNT1_ENST00000587758.1_Missense_Mutation_p.K130N|TNNT1_ENST00000592920.1_5'UTR	p.K141N	NM_003283.4	NP_003274.3	WXS	Illumina GAIIx	Phase_I	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	10	627	-			141					O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	c.423G>T	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713682	0.68730	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000536926;ENST00000537693;ENST00000429737	D;D;D	0.94046	-3.34;-3.34;-3.34	4.37	3.32	0.38043	.	0.124974	0.52532	D	0.000067	D	0.96084	0.8724	M	0.88241	2.94	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.996;0.993;0.993;0.999;0.993	D;P;P;D;P	0.67382	0.951;0.773;0.857;0.926;0.773	D	0.95123	0.8248	10	0.87932	D	0	-20.1333	7.0255	0.24938	0.0:0.7881:0.0:0.2118	.	141;130;141;141;130	Q56R94;P13805-2;P13805-3;P13805;F5H1H4	.;.;.;TNNT1_HUMAN;.	N	141;130;130;71;156	ENSP00000291901:K141N;ENSP00000349233:K130N;ENSP00000439640:K130N	ENSP00000291901:K141N	K	-	3	2	TNNT1	60341219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.214000	0.42853	0.965000	0.38133	0.484000	0.47621	AAG		0.572	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283		13	98	1	0	7.93312e-07	1	8.98086e-07	13	98					A	55649407	C	A	55649407	3	1	48	1	0	0	0	0	1	0	0	0	16345	912	32	2	433	2	TNNT1	19	55649407	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	198142	55649407	3479576	4116	8584										
TNNI3	7137	broad.mit.edu	37	chr19	55665401	55665401	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttagcccacactcaccttCtcggtgtcctccttcttcac	4	19	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55665401C>A	ENST00000344887.5	-	7	688	c.546G>T	c.(544-546)gaG>gaT	p.E182D	TNNI3_ENST00000590463.1_5'Flank|TNNI3_ENST00000588882.1_Missense_Mutation_p.E157D	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	182					cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACTCACCTTCTCGGTGTCCT	0.622																																						ENST00000344887.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(544-546)gaG>gaT		troponin I type 3 (cardiac)							66	69	68					19																	55665401		2061	4216	6277	SO:0001583	missense	7137				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	g.chr19:55665401C>A	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"troponin I, cardiac", "cardiomyopathy, dilated 2A (autosomal recessive)"	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.546G>T	19.37:g.55665401C>A	ENSP00000341838:p.Glu182Asp		Somatic				TNNI3_ENST00000588882.1_Missense_Mutation_p.E157D	p.E182D	NM_000363.4	NP_000354.4	WXS	Illumina GAIIx	Phase_I	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	688	-			182						Missense_Mutation	SNP	ENST00000344887.5	37	c.546G>T	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374201	0.42105	.	.	ENSG00000129991	ENST00000344887	D	0.94862	-3.54	4.72	3.67	0.42095	.	0.379769	0.24211	N	0.040530	D	0.88880	0.6557	L	0.31752	0.955	0.45250	D	0.998251	B	0.02656	0.0	B	0.01281	0.0	D	0.84146	0.0420	10	0.52906	T	0.07	-10.4701	7.9263	0.29876	0.0:0.7478:0.1621:0.0902	.	182	P19429	TNNI3_HUMAN	D	182	ENSP00000341838:E182D	ENSP00000341838:E182D	E	-	3	2	TNNI3	60357213	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	2.445000	0.44899	1.103000	0.41568	0.585000	0.79938	GAG		0.622	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1			37	66	1	0	2.75727e-19	1	3.7504e-19	37	66					A	55665401	C	A	55665401	3	1	48	1	0	0	0	0	1	0	0	0	16343	912	32	2	94	2	TNNI3	19	55665401	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	15994	55665401	3463582	4117	8585										
NLRP9	338321	broad.mit.edu	37	chr19	56243645	56243645	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggttatttcctgctttaggtCttttgacagtggaaaaccaa	9	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56243645C>A	ENST00000332836.2	-	2	1579	c.1552G>T	c.(1552-1554)Gac>Tac	p.D518Y		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	518						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)		TGCTTTAGGTCTTTTGACAGT	0.418																																						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.(1552-1554)Gac>Tac		NLR family, pyrin domain containing 9							78	77	78					19																	56243645		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56243645C>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.1552G>T	19.37:g.56243645C>A	ENSP00000331857:p.Asp518Tyr		Somatic					p.D518Y	NM_176820.2	NP_789790.2	WXS	Illumina GAIIx	Phase_I	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1579	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	518					B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.1552G>T	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	5.357	0.251155	0.10130	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.73469	-0.75	2.56	1.52	0.23074	.	.	.	.	.	T	0.63965	0.2556	L	0.46157	1.445	0.09310	N	1	B	0.14438	0.01	B	0.17098	0.017	T	0.54879	-0.8227	9	0.46703	T	0.11	.	5.3889	0.16234	0.0:0.8406:0.0:0.1594	.	518	Q7RTR0	NALP9_HUMAN	Y	518	ENSP00000331857:D518Y	ENSP00000331857:D518Y	D	-	1	0	NLRP9	60935457	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.212000	0.17497	0.678000	0.31325	0.644000	0.83932	GAC		0.418	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		41	63	1	0	2.19489e-29	1	3.12373e-29	41	63					A	56243645	C	A	56243645	3	1	48	1	0	0	0	0	1	0	0	0	10493	913	32	2	1455	2	NLRP9	19	56243645	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	578244	56243645	2885338	4118	8586										
NLRP11	204801	broad.mit.edu	37	chr19	56329275	56329275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtgaccccactcacggtttCgtctgccaatgatcttccta	7	15	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56329275C>T	ENST00000589093.1	-	2	359	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	NLRP11_ENST00000443188.1_Missense_Mutation_p.R89Q|NLRP11_ENST00000360133.3_Missense_Mutation_p.R89Q|NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Missense_Mutation_p.R89Q			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	89	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)|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)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTCACGGTTTCGTCTGCCAAT	0.418																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(265-267)cGa>cAa		NLR family, pyrin domain containing 11							96	88	91					19																	56329275		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56329275C>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.266G>A	19.37:g.56329275C>T	ENSP00000466285:p.Arg89Gln		Somatic				NLRP11_ENST00000589093.1_Missense_Mutation_p.R89Q|NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Missense_Mutation_p.R89Q|NLRP11_ENST00000360133.3_Missense_Mutation_p.R89Q	p.R89Q	NM_145007.3	NP_659444.2	WXS	Illumina GAIIx	Phase_I	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	976	-		Colorectal(82;0.0002)	89			DAPIN.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.266G>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548556	0.27652	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.57273	0.41;0.41	2.5	0.265	0.15612	Pyrin (1);DEATH-like (2);	.	.	.	.	T	0.36524	0.0970	L	0.39898	1.24	0.09310	N	1	P	0.43519	0.809	B	0.39503	0.301	T	0.15838	-1.0423	9	0.25751	T	0.34	.	4.7859	0.13225	0.0:0.6816:0.0:0.3184	.	89	P59045	NAL11_HUMAN	Q	89	ENSP00000409898:R89Q;ENSP00000353251:R89Q	ENSP00000353251:R89Q	R	-	2	0	NLRP11	61021087	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.511000	0.22739	0.149000	0.19098	-0.156000	0.13503	CGA		0.418	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		27	39	0	0	0	1	0	27	39					T	56329275	C	T	56329275	3	4	48	1	0	0	0	0	1	0	0	0	10482	884	31	1	2871	1	NLRP11	19	56329275	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	85630	56329275	2799708	4119	8587										
NLRP8	126205	broad.mit.edu	37	chr19	56485190	56485190	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcctctgcagaggctggtgTaagtcccagaatgttttctt	11	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56485190T>C	ENST00000291971.3	+	7	2776		c.e7+2		NLRP8_ENST00000590542.1_Splice_Site	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8						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)		GAGGCTGGTGTAAGTCCCAGA	0.458																																						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.e7+2		NLR family, pyrin domain containing 8							93	85	88					19																	56485190		2203	4300	6503	SO:0001630	splice_region_variant	126205					cytoplasm	ATP binding	g.chr19:56485190T>C	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.2705+2T>C	19.37:g.56485190T>C			Somatic				NLRP8_ENST00000590542.1_Splice_Site		NM_176811.2	NP_789781.2	WXS	Illumina GAIIx	Phase_I	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	7	2776	+		Colorectal(82;0.000147)|Ovarian(87;0.17)						Q7RTR4	Splice_Site	SNP	ENST00000291971.3	37		CCDS12937.1	.	.	.	.	.	.	.	.	.	.	T	9.823	1.186281	0.21870	.	.	ENSG00000179709	ENST00000291971	.	.	.	2.04	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0859	0.19966	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRP8	61177002	1.000000	0.71417	0.996000	0.52242	0.418000	0.31294	3.334000	0.52097	1.193000	0.43086	0.421000	0.28195	.		0.458	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	Intron	5	86	0	0	0	1	0	5	86					C	56485190	T	C	56485190	5	2	48	1	0	0	0	0	0	0	1	0	10492	1652	57	4	2733	4	NLRP8	19	56485190	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	155915	56485190	2643793	4120	8588										
NLRP5	126206	broad.mit.edu	37	chr19	56538862	56538862	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagaagctcaagtcagaggtCgtgtctccccgttacctgtt	11	11	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56538862C>T	ENST00000390649.3	+	7	1263	c.1263C>T	c.(1261-1263)gtC>gtT	p.V421V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	421	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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)		AGTCAGAGGTCGTGTCTCCCC	0.547																																						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.(1261-1263)gtC>gtT		NLR family, pyrin domain containing 5							48	50	50					19																	56538862		2086	4204	6290	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56538862C>T	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.1263C>T	19.37:g.56538862C>T			Somatic					p.V421V	NM_153447.4	NP_703148.4	WXS	Illumina GAIIx	Phase_I	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1263	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	421			NACHT.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.1263C>T	CCDS12938.1																																																																																				0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		17	22	0	0	0	1	0	17	22					T	56538862	C	T	56538862	2	4	48	1	0	0	0	0	0	0	0	1	10489	871	31	1		1	NLRP5	19	56538862	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	53672	56538862	2590121	4121	8589										
ZSCAN5A	79149	broad.mit.edu	37	chr19	56736267	56736267	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgactccttcgggcagctgAacatcctgaagttcacgtga	10	13	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56736267A>C	ENST00000587340.1	-	4	844	c.149T>G	c.(148-150)tTc>tGc	p.F50C	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.F50C|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.F50C|ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000587492.1_Intron			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	50	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)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CGGGCAGCTGAACATCCTGAA	0.557																																						ENST00000587340.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(148-150)tTc>tGc		zinc finger and SCAN domain containing 5A							68	68	68					19																	56736267		2203	4300	6503	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56736267A>C	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.149T>G	19.37:g.56736267A>C	ENSP00000467631:p.Phe50Cys		Somatic				ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.F50C|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.F50C	p.F50C			WXS	Illumina GAIIx	Phase_I	Q9BUG6	ZSA5A_HUMAN			4	844	-			50			SCAN box.		B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.149T>G	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.075413	0.36662	.	.	ENSG00000131848	ENST00000391713	T	0.07567	3.18	2.45	2.45	0.29901	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.37892	0.1020	H	0.96604	3.85	0.20403	N	0.999904	D	0.89917	1.0	D	0.87578	0.998	T	0.17776	-1.0358	9	0.87932	D	0	.	6.8851	0.24195	1.0:0.0:0.0:0.0	.	50	Q9BUG6	ZSA5A_HUMAN	C	50	ENSP00000375593:F50C	ENSP00000375593:F50C	F	-	2	0	ZSCAN5A	61428079	0.055000	0.20627	0.002000	0.10522	0.003000	0.03518	1.886000	0.39688	1.393000	0.46605	0.529000	0.55759	TTC		0.557	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		27	50	0	0	0	1	0	27	50					C	56736267	A	C	56736267	3	2	48	1	0	0	0	0	1	0	0	0	18253	246	9	4	1357	4	ZSCAN5A	19	56736267	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	197405	56736267	2392716	4122	8590										
ZNF583	147949	broad.mit.edu	37	chr19	56935607	56935607	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaatgtaaagattgcaggaAatctttcaggcagcgtgcac	11	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56935607A>C	ENST00000333201.9	+	5	1790	c.1580A>C	c.(1579-1581)aAa>aCa	p.K527T	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.K527T	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	527					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GATTGCAGGAAATCTTTCAGG	0.408																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1579-1581)aAa>aCa		zinc finger protein 583							108	107	107					19																	56935607		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935607A>C	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1580A>C	19.37:g.56935607A>C	ENSP00000388502:p.Lys527Thr		Somatic				ZNF583_ENST00000291598.7_Missense_Mutation_p.K527T|ZNF583_ENST00000585612.1_Intron	p.K527T	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	WXS	Illumina GAIIx	Phase_I	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1790	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	527					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1580A>C	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.954143	0.53293	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.27890	1.64;1.64	4.64	3.62	0.41486	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000235	T	0.59622	0.2207	M	0.92970	3.365	0.20196	N	0.999927	D	0.65815	0.995	D	0.66979	0.948	T	0.56805	-0.7918	9	.	.	.	.	9.5485	0.39295	0.9144:0.0:0.0856:0.0	.	527	Q96ND8	ZN583_HUMAN	T	527	ENSP00000291598:K527T;ENSP00000388502:K527T	.	K	+	2	0	ZNF583	61627419	0.684000	0.27642	0.001000	0.08648	0.998000	0.95712	3.265000	0.51561	0.920000	0.36970	0.528000	0.53228	AAA		0.408	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		25	56	0	0	0	1	0	25	56					C	56935607	A	C	56935607	3	2	48	1	0	0	0	0	1	0	0	0	18030	14	1	4	1594	4	ZNF583	19	56935607	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	199340	56935607	2193376	4123	8591										
ZNF583	147949	broad.mit.edu	37	chr19	56935644	56935644	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcacatcttgctcatcatgaGagaattcatactatggagtc	8	9	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56935644G>A	ENST00000333201.9	+	5	1827	c.1617G>A	c.(1615-1617)gaG>gaA	p.E539E	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Silent_p.E539E	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	539					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CTCATCATGAGAGAATTCATa	0.418																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1615-1617)gaG>gaA		zinc finger protein 583							95	91	92					19																	56935644		2203	4300	6503	SO:0001819	synonymous_variant	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935644G>A	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1617G>A	19.37:g.56935644G>A			Somatic				ZNF583_ENST00000291598.7_Silent_p.E539E|ZNF583_ENST00000585612.1_Intron	p.E539E	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	WXS	Illumina GAIIx	Phase_I	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1827	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	539					O14850|Q2NKK3	Silent	SNP	ENST00000333201.9	37	c.1617G>A	CCDS12943.1																																																																																				0.418	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		13	42	0	0	0	1	0	13	42					A	56935644	G	A	56935644	2	1	48	1	0	0	0	0	0	0	0	1	18030	933	33	3		3	ZNF583	19	56935644	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	37	56935644	2193339	4124	8592										
ZNF667	63934	broad.mit.edu	37	chr19	56953524	56953524	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccacatttattatatttatgTgttttctttccattgtgaat	4	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56953524T>C	ENST00000504904.3	-	7	1559	c.840A>G	c.(838-840)acA>acG	p.T280T	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Silent_p.T280T|ZNF667_ENST00000342634.3_Silent_p.T408T			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TATATTTATGTGTTTTCTTTC	0.363																																						ENST00000504904.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(838-840)acA>acG		zinc finger protein 667							63	68	66					19																	56953524		2200	4297	6497	SO:0001819	synonymous_variant	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953524T>C		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.840A>G	19.37:g.56953524T>C			Somatic				ZNF667_ENST00000342634.3_Silent_p.T408T|ZNF667_ENST00000292069.6_Silent_p.T280T|ZNF667_ENST00000591790.1_3'UTR	p.T280T			WXS	Illumina GAIIx	Phase_I	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	7	1559	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	280					B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	c.840A>G	CCDS12944.1																																																																																				0.363	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		14	49	0	0	0	1	0	14	49					C	56953524	T	C	56953524	2	2	48	1	0	0	0	0	0	0	0	1	18089	1683	59	4		4	ZNF667	19	56953524	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	17880	56953524	2175459	4125	8593										
ZNF471	57573	broad.mit.edu	37	chr19	57036962	57036962	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggctactcatcagagaattcAtactggagagaagccttatg	10	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57036962A>G	ENST00000308031.5	+	5	1659	c.1526A>G	c.(1525-1527)cAt>cGt	p.H509R	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	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)|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)		CAGAGAATTCATACTGGAGAG	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.(1525-1527)cAt>cGt		zinc finger protein 471							64	68	67					19																	57036962		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57036962A>G	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.1526A>G	19.37:g.57036962A>G	ENSP00000309161:p.His509Arg		Somatic				ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	p.H509R	NM_020813.2	NP_065864.2	WXS	Illumina GAIIx	Phase_I	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1659	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	509					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.1526A>G	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359446	0.61403	.	.	ENSG00000196263	ENST00000308031	T	0.67523	-0.27	3.31	3.31	0.37934	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83216	0.5206	M	0.91663	3.23	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.85895	0.1431	9	0.87932	D	0	.	10.7985	0.46474	1.0:0.0:0.0:0.0	.	509	Q9BX82	ZN471_HUMAN	R	509	ENSP00000309161:H509R	ENSP00000309161:H509R	H	+	2	0	ZNF471	61728774	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.530000	0.67141	1.381000	0.46364	0.379000	0.24179	CAT		0.378	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		25	42	0	0	0	1	0	25	42					G	57036962	A	G	57036962	3	3	48	1	0	0	0	0	1	0	0	0	17945	217	8	4	1540	4	ZNF471	19	57036962	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	83438	57036962	2092021	4126	8594										
ZNF470	388566	broad.mit.edu	37	chr19	57088168	57088168	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccggcaatcataatggaaaGacttaaaagctatgaccttg	8	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57088168G>T	ENST00000330619.8	+	6	1057	c.371G>T	c.(370-372)aGa>aTa	p.R124I	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R124I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATAATGGAAAGACTTAAAAGC	0.363																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(370-372)aGa>aTa		zinc finger protein 470							65	68	67					19																	57088168		2202	4298	6500	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57088168G>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.371G>T	19.37:g.57088168G>T	ENSP00000333223:p.Arg124Ile		Somatic				ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R124I	p.R124I	NM_001001668.3	NP_001001668.3	WXS	Illumina GAIIx	Phase_I	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	1057	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	124					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.371G>T	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	6.500	0.460396	0.12342	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.07444	3.19;3.19	4.03	1.74	0.24563	.	.	.	.	.	T	0.15998	0.0385	L	0.45352	1.415	0.09310	N	1	D	0.61697	0.99	D	0.66497	0.944	T	0.09509	-1.0671	9	0.52906	T	0.07	.	6.0467	0.19764	0.2623:0.0:0.7377:0.0	.	124	Q6ECI4	ZN470_HUMAN	I	124	ENSP00000375590:R124I;ENSP00000333223:R124I	ENSP00000333223:R124I	R	+	2	0	ZNF470	61779980	0.003000	0.15002	0.288000	0.24862	0.032000	0.12392	0.351000	0.20096	0.844000	0.35094	0.585000	0.79938	AGA		0.363	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		10	34	1	0	7.48243e-07	1	8.49459e-07	10	34					T	57088168	G	T	57088168	3	4	48	1	0	0	0	0	1	0	0	0	17944	942	33	2	385	2	ZNF470	19	57088168	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	51206	57088168	2040815	4127	8595										
ZIM2	23619	broad.mit.edu	37	chr19	57290833	57290833	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ataatgtcaggtttagagaaCtggtgccctgttggagagga	14	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57290833C>A	ENST00000391708.3	-	11	1196	c.654G>T	c.(652-654)caG>caT	p.Q218H	AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.Q218H|ZIM2_ENST00000221722.5_Missense_Mutation_p.Q218H|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.Q218H|ZIM2_ENST00000601070.1_Missense_Mutation_p.Q218H	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	218	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)|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)		GTTTAGAGAACTGGTGCCCTG	0.458																																						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.(652-654)caG>caT		zinc finger, imprinted 2							167	136	147					19																	57290833		2203	4300	6503	SO:0001583	missense	23619							g.chr19:57290833C>A	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.654G>T	19.37:g.57290833C>A	ENSP00000375589:p.Gln218His		Somatic				ZIM2_ENST00000599935.1_Missense_Mutation_p.Q218H|ZIM2_ENST00000601070.1_Missense_Mutation_p.Q218H|ZIM2_ENST00000221722.5_Missense_Mutation_p.Q218H|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.Q218H	p.Q218H	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(193;0.0314)	11	1196	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)						Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.654G>T	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.020070	0.00418	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.00808	5.67;5.67	3.95	-4.97	0.03029	Krueppel-associated box (3);	.	.	.	.	T	0.01029	0.0034	N	0.25060	0.705	.	.	.	D	0.65815	0.995	P	0.51582	0.674	T	0.34750	-0.9816	8	0.22706	T	0.39	.	7.5587	0.27839	0.0:0.274:0.1268:0.5992	.	218	Q9NZV7	ZIM2_HUMAN	H	218	ENSP00000375589:Q218H;ENSP00000221722:Q218H	ENSP00000221722:Q218H	Q	-	3	2	ZIM2	61982645	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.520000	0.02241	-1.305000	0.02327	-4.046000	0.00012	CAG		0.458	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			4	73	1	0	0.00024832	1	0.000265255	4	73					A	57290833	C	A	57290833	3	1	48	1	0	0	0	0	1	0	0	0	17699	564	20	5	937	5	ZIM2	19	57290833	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	202665	57290833	1838150	4128	8596										
PEG3	5178	broad.mit.edu	37	chr19	57326134	57326134	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgtccacacaaaaggcatcGaatggccgacccagcaagag	10	12	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57326134G>A	ENST00000326441.9	-	10	4039	c.3676C>T	c.(3676-3678)Cga>Tga	p.R1226*	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Nonsense_Mutation_p.R1100*|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Nonsense_Mutation_p.R1102*|PEG3_ENST00000423103.2_Nonsense_Mutation_p.R1226*|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1226					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.R1226>?(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)		AAAAGGCATCGAATGGCCGAC	0.502																																						ENST00000326441.9																			2	Complex(2)	p.R1226>?(2)	large_intestine(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.(3676-3678)Cga>Tga		paternally expressed 3							85	80	82					19																	57326134		2203	4300	6503	SO:0001587	stop_gained	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326134G>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.3676C>T	19.37:g.57326134G>A	ENSP00000326581:p.Arg1226*		Somatic				PEG3_ENST00000598410.1_Nonsense_Mutation_p.R1102*|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.R1226*|PEG3_ENST00000593695.1_Nonsense_Mutation_p.R1100*|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	p.R1226*	NM_006210.2	NP_006201.1	WXS	Illumina GAIIx	Phase_I	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	4039	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1226					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Nonsense_Mutation	SNP	ENST00000326441.9	37	c.3676C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	42	9.777933	0.99261	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	.	.	.	4.06	1.86	0.25419	.	0.483882	0.15597	N	0.254134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-4.4024	7.7786	0.29051	0.0:0.1495:0.6369:0.2136	.	.	.	.	X	1226	.	ENSP00000326581:R1226X	R	-	1	2	ZIM2	62017946	0.000000	0.05858	0.001000	0.08648	0.959000	0.62525	-0.814000	0.04486	0.617000	0.30160	0.655000	0.94253	CGA		0.502	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			30	48	0	0	0	1	0	30	48					A	57326134	G	A	57326134	4	1	48	1	0	0	0	0	0	1	0	0	11729	1066	37	1	1094	1	PEG3	19	57326134	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	35301	57326134	1802849	4129	8597										
PEG3	5178	broad.mit.edu	37	chr19	57327758	57327758	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggccatctgtaaagtcacaGagcttctccttattgtaagt	8	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57327758G>A	ENST00000326441.9	-	10	2415	c.2052C>T	c.(2050-2052)ctC>ctT	p.L684L	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.L558L|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Silent_p.L560L|PEG3_ENST00000423103.2_Silent_p.L684L|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	684					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)		TAAAGTCACAGAGCTTCTCCT	0.448																																						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.(2050-2052)ctC>ctT		paternally expressed 3							85	88	87					19																	57327758		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.chr19:57327758G>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.2052C>T	19.37:g.57327758G>A			Somatic				PEG3_ENST00000598410.1_Silent_p.L560L|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.L684L|PEG3_ENST00000593695.1_Silent_p.L558L|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	p.L684L	NM_006210.2	NP_006201.1	WXS	Illumina GAIIx	Phase_I	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	2415	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	684					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.2052C>T	CCDS12948.1																																																																																				0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			16	62	0	0	0	1	0	16	62					A	57327758	G	A	57327758	2	1	48	1	0	0	0	0	0	0	0	1	11729	929	33	3		3	PEG3	19	57327758	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1624	57327758	1801225	4130	8598										
USP29	57663	broad.mit.edu	37	chr19	57640183	57640183	+	Missense_Mutation	SNP	T	T	G													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cactttcaaatctggaaaatTtataagaatttttcagctga							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57640183T>G	ENST00000254181.4	+	4	594	c.140T>G	c.(139-141)tTt>tGt	p.F47C	USP29_ENST00000598197.1_Missense_Mutation_p.F47C	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	47					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTGGAAAATTTATAAGAATT	0.363																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(139-141)tTt>tGt		ubiquitin specific peptidase 29							44	48	47					19																	57640183		2203	4300	6503	SO:0001583	missense	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640183T>G		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.140T>G	19.37:g.57640183T>G	ENSP00000254181:p.Phe47Cys		Somatic				USP29_ENST00000598197.1_Missense_Mutation_p.F47C	p.F47C	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	594	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	47						Missense_Mutation	SNP	ENST00000254181.4	37	c.140T>G	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	T	4.325	0.059613	0.08339	.	.	ENSG00000131864	ENST00000254181	T	0.47177	0.85	2.59	-1.54	0.08584	.	3.800890	0.01128	U	0.005932	T	0.29652	0.0740	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12967	-1.0527	10	0.40728	T	0.16	0.8423	4.273	0.10796	0.1864:0.0:0.4821:0.3315	.	47	Q9HBJ7	UBP29_HUMAN	C	47	ENSP00000254181:F47C	ENSP00000254181:F47C	F	+	2	0	USP29	62331995	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.606000	0.05654	-0.419000	0.07439	0.482000	0.46254	TTT		0.363	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			9	25	0	0	0	1	0	9	25					G	57640183	T	G	57640183	3	3	48	1	0	0	0	0	1	0	0	0	17074	1841	64	4	142	4	USP29	19	57640183	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	312425	57640183	1488800	4131	8599	24	2								
USP29	57663	broad.mit.edu	37	chr19	57640189	57640189	+	Missense_Mutation	SNP	G	G	T													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaatctggaaaatttataaGaatttttcagctgagcaaca							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57640189G>T	ENST00000254181.4	+	4	600	c.146G>T	c.(145-147)aGa>aTa	p.R49I	USP29_ENST00000598197.1_Missense_Mutation_p.R49I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	49					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAATTTATAAGAATTTTTCAG	0.353																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(145-147)aGa>aTa		ubiquitin specific peptidase 29							45	49	47					19																	57640189		2203	4300	6503	SO:0001583	missense	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640189G>T		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.146G>T	19.37:g.57640189G>T	ENSP00000254181:p.Arg49Ile		Somatic				USP29_ENST00000598197.1_Missense_Mutation_p.R49I	p.R49I	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	600	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	49						Missense_Mutation	SNP	ENST00000254181.4	37	c.146G>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131689	0.37630	.	.	ENSG00000131864	ENST00000254181	T	0.56103	0.48	2.79	1.75	0.24633	.	0.439792	0.16860	U	0.196577	T	0.50820	0.1638	L	0.50333	1.59	0.09310	N	1	D	0.54772	0.968	P	0.50970	0.655	T	0.41088	-0.9528	10	0.87932	D	0	-0.9093	5.6238	0.17470	0.1534:0.0:0.8466:0.0	.	49	Q9HBJ7	UBP29_HUMAN	I	49	ENSP00000254181:R49I	ENSP00000254181:R49I	R	+	2	0	USP29	62332001	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.100000	0.15231	0.712000	0.32039	-0.218000	0.12543	AGA		0.353	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			13	17	1	0	0.000219431	1	0.000235335	13	17					T	57640189	G	T	57640189	3	4	48	1	0	0	0	0	1	0	0	0	17074	942	33	2	148	2	USP29	19	57640189	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	6	57640189	1488794	4132	8600	24	2								
USP29	57663	broad.mit.edu	37	chr19	57642424	57642424	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggttctgacaacccaggaaAcaaaaacattttagatgcag	9	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57642424A>G	ENST00000254181.4	+	4	2835	c.2381A>G	c.(2380-2382)aAc>aGc	p.N794S	U3_ENST00000516874.1_RNA|USP29_ENST00000598197.1_Missense_Mutation_p.N794S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	794	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACCCAGGAAACAAAAACATT	0.458																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(2380-2382)aAc>aGc		ubiquitin specific peptidase 29							53	46	48					19																	57642424		2203	4300	6503	SO:0001583	missense	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642424A>G		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2381A>G	19.37:g.57642424A>G	ENSP00000254181:p.Asn794Ser		Somatic				USP29_ENST00000598197.1_Missense_Mutation_p.N794S	p.N794S	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	2835	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	794						Missense_Mutation	SNP	ENST00000254181.4	37	c.2381A>G	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	A	8.783	0.928761	0.18131	.	.	ENSG00000131864	ENST00000254181	T	0.73575	-0.76	1.4	1.4	0.22301	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.65354	0.2683	L	0.49126	1.545	0.09310	N	1	P	0.43578	0.811	B	0.40825	0.341	T	0.58618	-0.7605	9	0.72032	D	0.01	-8.1845	4.9404	0.13963	1.0:0.0:0.0:0.0	.	794	Q9HBJ7	UBP29_HUMAN	S	794	ENSP00000254181:N794S	ENSP00000254181:N794S	N	+	2	0	USP29	62334236	0.999000	0.42202	0.006000	0.13384	0.005000	0.04900	0.434000	0.21494	0.877000	0.35895	0.383000	0.25322	AAC		0.458	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			5	37	0	0	0	1	0	5	37					G	57642424	A	G	57642424	3	3	48	1	0	0	0	0	1	0	0	0	17074	43	2	4	2383	4	USP29	19	57642424	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2235	57642424	1486559	4133	8601										
ZIM3	114026	broad.mit.edu	37	chr19	57646993	57646993	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattttctgatgttgaaagaGatttgacttctgcttgtagg	10	5	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57646993G>T	ENST00000269834.1	-	5	1097	c.712C>A	c.(712-714)Ctc>Atc	p.L238I	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	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(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTTGAAAGAGATTTGACTTC	0.403																																						ENST00000269834.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(712-714)Ctc>Atc		zinc finger, imprinted 3							130	128	129					19																	57646993		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646993G>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"Zinc fingers, C2H2-type", "-"	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.712C>A	19.37:g.57646993G>T	ENSP00000269834:p.Leu238Ile		Somatic					p.L238I	NM_052882.1	NP_443114.1	WXS	Illumina GAIIx	Phase_I	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1097	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	238					Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.712C>A	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	G	9.884	1.202411	0.22121	.	.	ENSG00000141946	ENST00000269834	T	0.53857	0.6	2.53	2.53	0.30540	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75752	0.3892	M	0.91972	3.26	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63866	-0.6540	9	0.66056	D	0.02	.	10.7175	0.46021	0.0:0.0:1.0:0.0	.	238	Q96PE6	ZIM3_HUMAN	I	238	ENSP00000269834:L238I	ENSP00000269834:L238I	L	-	1	0	ZIM3	62338805	0.425000	0.25498	0.006000	0.13384	0.219000	0.24729	1.120000	0.31271	1.392000	0.46585	0.313000	0.20887	CTC		0.403	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			28	51	1	0	4.87955e-14	1	6.31333e-14	28	51					T	57646993	G	T	57646993	3	4	48	1	0	0	0	0	1	0	0	0	17700	942	33	2	710	2	ZIM3	19	57646993	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4569	57646993	1481990	4134	8602										
ZIM3	114026	broad.mit.edu	37	chr19	57647266	57647266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttctgtatccattatcatCgtgagaattattttgtacat	5	6	2	1	rs375178643		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57647266C>T	ENST00000269834.1	-	5	824	c.439G>A	c.(439-441)Gat>Aat	p.D147N	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	147					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(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCATTATCATCGTGAGAATTA	0.353																																						ENST00000269834.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(439-441)Gat>Aat		zinc finger, imprinted 3		C	ASN/ASP	0,4406		0,0,2203	181	176	178		439	-1.6	0	19		178	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZIM3	NM_052882.1	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	147/473	57647266	1,13005	2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57647266C>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"Zinc fingers, C2H2-type", "-"	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.439G>A	19.37:g.57647266C>T	ENSP00000269834:p.Asp147Asn		Somatic					p.D147N	NM_052882.1	NP_443114.1	WXS	Illumina GAIIx	Phase_I	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	824	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	147					Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.439G>A	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	C	1.516	-0.548240	0.04024	0.0	1.16E-4	ENSG00000141946	ENST00000269834	T	0.04406	3.63	2.08	-1.57	0.08506	.	.	.	.	.	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43032	-0.9416	9	0.51188	T	0.08	.	9.3693	0.38244	0.0:0.6922:0.0:0.3078	.	147	Q96PE6	ZIM3_HUMAN	N	147	ENSP00000269834:D147N	ENSP00000269834:D147N	D	-	1	0	ZIM3	62339078	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.582000	0.02117	-0.500000	0.06614	-0.752000	0.03492	GAT		0.353	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			41	87	0	0	0	1	0	41	87					T	57647266	C	T	57647266	3	4	48	1	0	0	0	0	1	0	0	0	17700	884	31	1	983	1	ZIM3	19	57647266	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	273	57647266	1481717	4135	8603										
ZNF460	10794	broad.mit.edu	37	chr19	57802428	57802428	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggggaaaattcctataaattCgaggaaatgtttaatgagaa	10	3	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57802428C>T	ENST00000360338.3	+	3	841	c.519C>T	c.(517-519)ttC>ttT	p.F173F	ZNF460_ENST00000537645.1_Silent_p.F132F	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	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)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTATAAATTCGAGGAAATGT	0.428																																						ENST00000360338.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(517-519)ttC>ttT		zinc finger protein 460							102	103	103					19																	57802428		2203	4300	6503	SO:0001819	synonymous_variant	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57802428C>T	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"Zinc fingers, C2H2-type", "-"	21628	protein-coding gene	gene with protein product		604755	"zinc finger protein 272"	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.519C>T	19.37:g.57802428C>T			Somatic				ZNF460_ENST00000537645.1_Silent_p.F132F	p.F173F	NM_006635.3	NP_006626.3	WXS	Illumina GAIIx	Phase_I	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	841	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	173					A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Silent	SNP	ENST00000360338.3	37	c.519C>T	CCDS12949.1																																																																																				0.428	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		32	64	0	0	0	1	0	32	64					T	57802428	C	T	57802428	2	4	48	1	0	0	0	0	0	0	0	1	17939	883	31	1		1	ZNF460	19	57802428	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	155162	57802428	1326555	4136	8604										
ZNF543	125919	broad.mit.edu	37	chr19	57839976	57839976	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttgcgagagtgcagacctCattcaacactacattatcca	6	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57839976C>A	ENST00000321545.4	+	4	1491	c.1146C>A	c.(1144-1146)ctC>ctA	p.L382L		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	382					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(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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;0.0257)		GTGCAGACCTCATTCAACACT	0.507																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(1144-1146)ctC>ctA		zinc finger protein 543							83	72	75					19																	57839976		2203	4300	6503	SO:0001819	synonymous_variant	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839976C>A	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1146C>A	19.37:g.57839976C>A			Somatic					p.L382L	NM_213598.3	NP_998763.2	WXS	Illumina GAIIx	Phase_I	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1491	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	382					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Silent	SNP	ENST00000321545.4	37	c.1146C>A	CCDS33130.1																																																																																				0.507	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		26	56	1	0	3.6726e-16	1	4.87283e-16	26	56					A	57839976	C	A	57839976	2	1	48	1	0	0	0	0	0	0	0	1	17991	813	29	2		2	ZNF543	19	57839976	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	37548	57839976	1289007	4137	8605										
VN1R1	57191	broad.mit.edu	37	chr19	57967372	57967372	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ataaaccttggggatctaatCttgatctccatccacctgca	6	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57967372C>A	ENST00000321039.3	-	1	482	c.483G>T	c.(481-483)aaG>aaT	p.K161N	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	161					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GGGATCTAATCTTGATCTCCA	0.483																																						ENST00000321039.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(481-483)aaG>aaT		vomeronasal 1 receptor 1							101	91	94					19																	57967372		2203	4300	6503	SO:0001583	missense	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967372C>A	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.483G>T	19.37:g.57967372C>A	ENSP00000322339:p.Lys161Asn		Somatic				AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	p.K161N	NM_020633.3	NP_065684.1	WXS	Illumina GAIIx	Phase_I	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	482	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	161					B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	c.483G>T	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115631	0.37339	.	.	ENSG00000178201	ENST00000321039	T	0.15256	2.44	4.24	-8.47	0.00939	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.40522	0.1120	M	0.89353	3.025	0.09310	N	1	D	0.61080	0.989	D	0.67231	0.95	T	0.53711	-0.8400	9	0.66056	D	0.02	.	13.2638	0.60122	0.0965:0.1192:0.0:0.7843	.	161	Q9GZP7	VN1R1_HUMAN	N	161	ENSP00000322339:K161N	ENSP00000322339:K161N	K	-	3	2	VN1R1	62659184	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.888000	0.04148	-2.217000	0.00731	-1.247000	0.01520	AAG		0.483	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		7	72	1	0	0.248553	1	0.24944	7	72					A	57967372	C	A	57967372	3	1	48	1	0	0	0	0	1	0	0	0	17193	912	32	2	582	2	VN1R1	19	57967372	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	127396	57967372	1161611	4138	8606										
ZNF549	256051	broad.mit.edu	37	chr19	58049412	58049412	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attccgccacaaacaaacatTtgttggccatcagcagagaa	7	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58049412T>G	ENST00000376233.3	+	4	1221	c.1040T>G	c.(1039-1041)tTt>tGt	p.F347C	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.F334C	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	347					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)		AAACAAACATTTGTTGGCCAT	0.438																																						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.(1039-1041)tTt>tGt		zinc finger protein 549							87	83	84					19																	58049412		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049412T>G	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.1040T>G	19.37:g.58049412T>G	ENSP00000365407:p.Phe347Cys		Somatic				ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.F334C	p.F347C	NM_001199295.1	NP_001186224.1	WXS	Illumina GAIIx	Phase_I	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1221	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	347					B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.1040T>G	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	T	12.10	1.835733	0.32421	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.15834	2.39;2.39	2.32	1.2	0.21068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40956	0.1138	M	0.89095	3.005	0.09310	N	1	P;D	0.63880	0.938;0.993	P;D	0.65573	0.665;0.936	T	0.16958	-1.0385	9	0.87932	D	0	.	6.2082	0.20613	0.2254:0.0:0.0:0.7746	.	347;334	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	C	334;347	ENSP00000240719:F334C;ENSP00000365407:F347C	ENSP00000240719:F334C	F	+	2	0	ZNF549	62741224	0.059000	0.20769	0.000000	0.03702	0.130000	0.20726	2.361000	0.44160	0.017000	0.15025	0.477000	0.44152	TTT		0.438	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		29	50	0	0	0	1	0	29	50					G	58049412	T	G	58049412	3	3	48	1	0	0	0	0	1	0	0	0	17996	1841	64	4	1011	4	ZNF549	19	58049412	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	82040	58049412	1079571	4139	8607										
ZNF549	256051	broad.mit.edu	37	chr19	58049766	58049766	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgactacatgcgacaccagaGaattcacactggagaaaggg	11	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58049766G>T	ENST00000376233.3	+	4	1575	c.1394G>T	c.(1393-1395)aGa>aTa	p.R465I	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R452I	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	465					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)		CGACACCAGAGAATTCACACT	0.428																																						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.(1393-1395)aGa>aTa		zinc finger protein 549							64	62	63					19																	58049766		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049766G>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.1394G>T	19.37:g.58049766G>T	ENSP00000365407:p.Arg465Ile		Somatic				ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R452I	p.R465I	NM_001199295.1	NP_001186224.1	WXS	Illumina GAIIx	Phase_I	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1575	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	465					B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.1394G>T	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159626	0.57368	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.24908	1.83;1.83	2.77	-1.41	0.08941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41858	0.1177	M	0.77103	2.36	0.36970	D	0.893781	P;D	0.61697	0.898;0.99	P;D	0.63033	0.505;0.91	T	0.49725	-0.8909	9	0.52906	T	0.07	.	7.2526	0.26158	0.4023:0.0:0.5977:0.0	.	465;452	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	I	452;465	ENSP00000240719:R452I;ENSP00000365407:R465I	ENSP00000240719:R452I	R	+	2	0	ZNF549	62741578	0.000000	0.05858	0.012000	0.15200	0.994000	0.84299	-0.125000	0.10579	-0.125000	0.11703	-0.225000	0.12378	AGA		0.428	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		21	39	1	0	6.33239e-15	1	8.29613e-15	21	39					T	58049766	G	T	58049766	3	4	48	1	0	0	0	0	1	0	0	0	17996	942	33	2	1365	2	ZNF549	19	58049766	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	354	58049766	1079217	4140	8608										
ZNF416	55659	broad.mit.edu	37	chr19	58084262	58084262	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttcaataaggttggaacttTggctaaaagatttcccacat	8	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58084262T>G	ENST00000196489.3	-	4	1232	c.1010A>C	c.(1009-1011)cAa>cCa	p.Q337P		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GTTGGAACTTTGGCTAAAAGA	0.428																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(1009-1011)cAa>cCa		zinc finger protein 416							95	92	93					19																	58084262		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084262T>G	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"Zinc fingers, C2H2-type", "-"	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1010A>C	19.37:g.58084262T>G	ENSP00000196489:p.Gln337Pro		Somatic					p.Q337P	NM_017879.1	NP_060349.1	WXS	Illumina GAIIx	Phase_I	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	1232	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	337					Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.1010A>C	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.307868	0.60305	.	.	ENSG00000083817	ENST00000196489;ENST00000359489	T	0.35973	1.28	3.64	-1.01	0.10169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39600	0.1084	M	0.75150	2.29	0.09310	N	1	P	0.51057	0.941	P	0.46940	0.532	T	0.30268	-0.9984	9	0.49607	T	0.09	.	6.5256	0.22299	0.0:0.5542:0.1807:0.2651	.	337	Q9BWM5	ZN416_HUMAN	P	337;296	ENSP00000196489:Q337P	ENSP00000196489:Q337P	Q	-	2	0	ZNF416	62776074	0.000000	0.05858	0.000000	0.03702	0.908000	0.53690	-6.340000	0.00070	-0.138000	0.11434	0.482000	0.46254	CAA		0.428	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		28	60	0	0	0	1	0	28	60					G	58084262	T	G	58084262	3	3	48	1	0	0	0	0	1	0	0	0	17908	1812	63	4	778	4	ZNF416	19	58084262	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	34496	58084262	1044721	4141	8609										
ZIK1	284307	broad.mit.edu	37	chr19	58101659	58101659	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatgtgaagtgctgcctattCtgtatgtcattgaagccctt	9	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58101659C>A	ENST00000597850.1	+	4	695	c.480C>A	c.(478-480)ttC>ttA	p.F160L	ZIK1_ENST00000599456.1_Missense_Mutation_p.F105L|ZIK1_ENST00000536878.2_Missense_Mutation_p.F147L|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	160					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)|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)		GCTGCCTATTCTGTATGTCAT	0.493																																						ENST00000597850.1																			0				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.(478-480)ttC>ttA		zinc finger protein interacting with K protein 1							86	75	79					19																	58101659		2203	4300	6503	SO:0001583	missense	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58101659C>A	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.480C>A	19.37:g.58101659C>A	ENSP00000472867:p.Phe160Leu		Somatic				ZIK1_ENST00000599456.1_Missense_Mutation_p.F105L|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.F147L	p.F160L	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	695	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	160					O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	c.480C>A	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	C	7.672	0.687115	0.14973	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.05081	3.5	2.97	-0.454	0.12197	.	.	.	.	.	T	0.02119	0.0066	N	0.01235	-0.94	0.09310	N	1	B;B	0.12013	0.0;0.005	B;B	0.12156	0.001;0.007	T	0.45862	-0.9232	9	0.35671	T	0.21	.	6.4389	0.21839	0.0:0.5691:0.0:0.4309	.	147;160	F5H435;Q3SY52	.;ZIK1_HUMAN	L	147;141;160	ENSP00000438487:F147L	ENSP00000303820:F160L	F	+	3	2	ZIK1	62793471	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.064000	0.14437	-0.038000	0.13624	0.555000	0.69702	TTC		0.493	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		22	41	1	0	6.44725e-10	1	7.85205e-10	22	41					A	58101659	C	A	58101659	3	1	48	1	0	0	0	0	1	0	0	0	17698	912	32	2	494	2	ZIK1	19	58101659	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	17397	58101659	1027324	4142	8610										
ZNF530	348327	broad.mit.edu	37	chr19	58118092	58118092	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttattcaccaccaaagatTtcacactggagaaagacctt	5	12	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58118092T>G	ENST00000332854.6	+	3	1419	c.1199T>G	c.(1198-1200)tTt>tGt	p.F400C	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACCAAAGATTTCACACTGGA	0.423																																						ENST00000332854.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20						c.(1198-1200)tTt>tGt		zinc finger protein 530							103	98	100					19																	58118092		2203	4300	6503	SO:0001583	missense	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58118092T>G	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"Zinc fingers, C2H2-type", "-"	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.1199T>G	19.37:g.58118092T>G	ENSP00000332861:p.Phe400Cys		Somatic				ZNF530_ENST00000597864.1_Intron	p.F400C	NM_020880.3	NP_065931.3	WXS	Illumina GAIIx	Phase_I	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1419	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	400					O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	c.1199T>G	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.377473	0.24944	.	.	ENSG00000183647	ENST00000332854	T	0.18338	2.22	2.39	1.3	0.21679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08044	0.0201	N	0.11341	0.13	0.09310	N	1	D	0.57571	0.98	B	0.42245	0.381	T	0.19321	-1.0309	9	0.49607	T	0.09	.	3.5607	0.07881	0.0:0.1397:0.2278:0.6325	.	400	Q6P9A1	ZN530_HUMAN	C	400	ENSP00000332861:F400C	ENSP00000332861:F400C	F	+	2	0	ZNF530	62809904	0.000000	0.05858	0.472000	0.27241	0.696000	0.40369	0.011000	0.13264	0.165000	0.19558	0.496000	0.49642	TTT		0.423	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		56	69	0	0	0	1	0	56	69					G	58118092	T	G	58118092	3	3	48	1	0	0	0	0	1	0	0	0	17986	1841	64	4	1209	4	ZNF530	19	58118092	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	16433	58118092	1010891	4143	8611										
ZNF551	90233	broad.mit.edu	37	chr19	58199270	58199270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtggcaaatcttttagacagCgctctggcctcattcagcac	9	12	4	1	rs560670635		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58199270C>T	ENST00000282296.5	+	3	1812	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	ZNF551_ENST00000356715.4_Missense_Mutation_p.R527C|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	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)			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)		TTTTAGACAGCGCTCTGGCCT	0.443													.|||	1	0.000199681	0	0	5008	,	,		22102	0		0	False		,,,				2504	0.001					ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1627-1629)Cgc>Tgc		zinc finger protein 551							79	75	77					19																	58199270		2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58199270C>T	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1627C>T	19.37:g.58199270C>T	ENSP00000282296:p.Arg543Cys		Somatic				AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R527C|AC003006.7_ENST00000596085.1_Intron	p.R543C	NM_001270938.1	NP_001257867.1	WXS	Illumina GAIIx	Phase_I	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1812	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	543					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.1627C>T	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	C	5.375	0.254502	0.10185	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	.	.	.	2.21	-4.42	0.03579	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28699	0.0711	L	0.31664	0.95	0.09310	N	1	D	0.67145	0.996	P	0.48114	0.567	T	0.27971	-1.0058	8	0.39692	T	0.17	.	10.8494	0.46761	0.6773:0.3227:0.0:0.0	.	543	Q7Z340	ZN551_HUMAN	C	543;527;326	.	ENSP00000282296:R527C	R	+	1	0	ZNF551	62891082	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.180000	0.00144	-1.370000	0.02144	-0.310000	0.09108	CGC		0.443	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		23	60	0	0	0	1	0	23	60					T	58199270	C	T	58199270	3	4	48	1	0	0	0	0	1	0	0	0	17998	768	27	1	1589	1	ZNF551	19	58199270	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	81178	58199270	929713	4144	8612										
ZNF814	730051	broad.mit.edu	37	chr19	58388316	58388316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taagtgccaggttctccagcGtcacatcacggtacaggcat	10	12	3	0	rs376851812	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58388316G>A	ENST00000435989.2	-	2	365	c.131C>T	c.(130-132)aCg>aTg	p.T44M	ZNF814_ENST00000597342.1_Missense_Mutation_p.T73M|ZNF814_ENST00000596604.1_Missense_Mutation_p.T44M|ZNF814_ENST00000597807.1_Missense_Mutation_p.T44M|ZNF814_ENST00000597832.1_Missense_Mutation_p.T44M|ZNF814_ENST00000600634.1_Missense_Mutation_p.T44M|CTD-2583A14.9_ENST00000602124.1_3'UTR|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						GTTCTCCAGCGTCACATCACG	0.498													.|||	3	0.000599042	0	0	5008	,	,		22578	0.002		0.001	False		,,,				2504	0					ENST00000435989.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(130-132)aCg>aTg		zinc finger protein 814		G	MET/THR	0,1384		0,0,692	183	147	158		131	2	0.9	19	dbSNP_134	158	1,3181		0,1,1590	no	missense	ZNF814	NM_001144989.1	81	0,1,2282	AA,AG,GG		0.0314,0.0,0.0219	benign	44/856	58388316	1,4565	692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58388316G>A		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.131C>T	19.37:g.58388316G>A	ENSP00000410545:p.Thr44Met		Somatic				ZNF814_ENST00000600634.1_Missense_Mutation_p.T44M|ZNF814_ENST00000597342.1_Missense_Mutation_p.T73M|ZNF814_ENST00000595295.1_Intron|CTD-2583A14.9_ENST00000602124.1_3'UTR|ZNF814_ENST00000597832.1_Missense_Mutation_p.T44M|ZNF814_ENST00000596604.1_Missense_Mutation_p.T44M|ZNF814_ENST00000597807.1_Missense_Mutation_p.T44M	p.T44M	NM_001144989.1	NP_001138461.1	WXS	Illumina GAIIx	Phase_I	B7Z6K7	ZN814_HUMAN			2	365	-			44			KRAB.		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.131C>T	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.161	-1.081502	0.01888	0.0	3.14E-4	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.01076	5.37	3.17	1.99	0.26369	Krueppel-associated box (4);	.	.	.	.	T	0.00241	0.0007	N	0.00008	-3.095	0.21627	N	0.99962	B	0.17038	0.02	B	0.08055	0.003	T	0.43605	-0.9381	9	0.02654	T	1	.	4.982	0.14170	0.8461:0.0:0.1539:0.0	.	44	B7Z6K7	ZN814_HUMAN	M	44	ENSP00000410545:T44M	ENSP00000365378:T44M	T	-	2	0	ZNF814	63080128	1.000000	0.71417	0.928000	0.36995	0.359000	0.29487	2.760000	0.47581	0.306000	0.22856	-0.683000	0.03753	ACG		0.498	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		32	65	0	0	0	1	0	32	65					A	58388316	G	A	58388316	3	1	48	1	0	0	0	0	1	0	0	0	18191	1145	40	1	2444	1	ZNF814	19	58388316	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	189046	58388316	740667	4145	8613										
ZNF418	147686	broad.mit.edu	37	chr19	58441904	58441904	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaaaagttcacagccacatCttcaaatgccacagtgccct	7	13	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58441904C>A	ENST00000396147.1	-	3	316	c.25G>T	c.(25-27)Gat>Tat	p.D9Y	ZNF418_ENST00000595830.1_Missense_Mutation_p.D9Y|ZNF418_ENST00000599852.1_Intron|ZNF418_ENST00000600989.1_Missense_Mutation_p.D9Y|ZNF418_ENST00000425570.3_Missense_Mutation_p.D30Y	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	9	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)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		ACAGCCACATCTTCAAATGCC	0.512																																						ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(25-27)Gat>Tat		zinc finger protein 418							166	150	155					19																	58441904		2203	4300	6503	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58441904C>A	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.25G>T	19.37:g.58441904C>A	ENSP00000379451:p.Asp9Tyr		Somatic				ZNF418_ENST00000425570.3_Missense_Mutation_p.D30Y|ZNF418_ENST00000595830.1_Missense_Mutation_p.D9Y|ZNF418_ENST00000599852.1_Intron|ZNF418_ENST00000600989.1_Missense_Mutation_p.D9Y	p.D9Y	NM_133460.1	NP_597717.1	WXS	Illumina GAIIx	Phase_I	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	3	316	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	9			KRAB.		Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.25G>T	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	14.14	2.447405	0.43429	.	.	ENSG00000196724	ENST00000396147;ENST00000425570	T;T	0.12039	2.72;2.72	2.75	2.75	0.32379	Krueppel-associated box (4);	.	.	.	.	T	0.58552	0.2130	H	0.99914	4.94	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60637	-0.7224	9	0.87932	D	0	.	11.2376	0.48951	0.0:1.0:0.0:0.0	.	9	Q8TF45	ZN418_HUMAN	Y	9;30	ENSP00000379451:D9Y;ENSP00000407039:D30Y	ENSP00000379451:D9Y	D	-	1	0	ZNF418	63133716	0.701000	0.27806	0.050000	0.19076	0.111000	0.19643	3.878000	0.56130	1.536000	0.49237	0.313000	0.20887	GAT		0.512	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		34	82	1	0	2.20474e-14	1	2.87106e-14	34	82					A	58441904	C	A	58441904	3	1	48	1	0	0	0	0	1	0	0	0	17910	913	32	2	2013	2	ZNF418	19	58441904	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	53588	58441904	687079	4146	8614										
ZNF256	10172	broad.mit.edu	37	chr19	58452990	58452990	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatgtgaagtctccggtgttTaatgaggtgacagctctggc	13	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58452990T>C	ENST00000282308.3	-	3	1382	c.1186A>G	c.(1186-1188)Aaa>Gaa	p.K396E	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	396					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)		CTCCGGTGTTTAATGAGGTGA	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.(1186-1188)Aaa>Gaa		zinc finger protein 256							70	66	68					19																	58452990		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.chr19:58452990T>C	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.1186A>G	19.37:g.58452990T>C	ENSP00000282308:p.Lys396Glu		Somatic				ZNF256_ENST00000598928.1_3'UTR	p.K396E	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	1382	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	396					B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	c.1186A>G	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	0.161	-1.080854	0.01888	.	.	ENSG00000152454	ENST00000282308	T	0.19394	2.15	2.97	-1.03	0.10102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08758	0.0217	N	0.16656	0.425	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.39820	-0.9595	9	0.02654	T	1	.	5.5474	0.17071	0.1619:0.0:0.335:0.5031	.	396	Q9Y2P7	ZN256_HUMAN	E	396	ENSP00000282308:K396E	ENSP00000282308:K396E	K	-	1	0	ZNF256	63144802	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-5.742000	0.00101	-0.462000	0.06984	-0.461000	0.05368	AAA		0.428	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			30	41	0	0	0	1	0	30	41					C	58452990	T	C	58452990	3	2	48	1	0	0	0	0	1	0	0	0	17814	1763	61	4	701	4	ZNF256	19	58452990	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	11086	58452990	675993	4147	8615										
C19orf18	147685	broad.mit.edu	37	chr19	58472793	58472793	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttccagctcattttcgttCtctggaagtaggtgcgtgga	11	8	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58472793C>T	ENST00000314391.3	-	5	599	c.498G>A	c.(496-498)gaG>gaA	p.E166E		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	166						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		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;0.017)		CATTTTCGTTCTCTGGAAGTA	0.488																																						ENST00000314391.3																			0				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(496-498)gaG>gaA		chromosome 19 open reading frame 18							163	127	139					19																	58472793		2203	4300	6503	SO:0001819	synonymous_variant	147685					integral to membrane		g.chr19:58472793C>T	BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.498G>A	19.37:g.58472793C>T			Somatic					p.E166E	NM_152474.4	NP_689687.1	WXS	Illumina GAIIx	Phase_I	Q8NEA5	CS018_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)	5	599	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	166						Silent	SNP	ENST00000314391.3	37	c.498G>A	CCDS12967.1																																																																																				0.488	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474		19	41	0	0	0	1	0	19	41					T	58472793	C	T	58472793	2	4	48	1	0	0	0	0	0	0	0	1	1912	912	32	3		3	C19orf18	19	58472793	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	19803	58472793	656190	4148	8616										
ZNF135	7694	broad.mit.edu	37	chr19	58578538	58578538	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctttagtcacagctcagcacTtatcgaacaccaccggacgc	7	15	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58578538T>G	ENST00000313434.5	+	5	787	c.686T>G	c.(685-687)cTt>cGt	p.L229R	RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Missense_Mutation_p.L229R|ZNF135_ENST00000401053.4_Missense_Mutation_p.L253R|ZNF135_ENST00000359978.6_Missense_Mutation_p.L241R|ZNF135_ENST00000506786.1_Missense_Mutation_p.L187R|ZNF135_ENST00000511556.1_Missense_Mutation_p.L241R	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	229					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGCTCAGCACTTATCGAACAC	0.473																																						ENST00000506786.1																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(559-561)cTt>cGt		zinc finger protein 135							134	124	128					19																	58578538		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578538T>G	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.686T>G	19.37:g.58578538T>G	ENSP00000321406:p.Leu229Arg		Somatic				ZNF135_ENST00000313434.5_Missense_Mutation_p.L229R|ZNF135_ENST00000359978.6_Missense_Mutation_p.L241R|ZNF135_ENST00000401053.4_Missense_Mutation_p.L253R|ZNF135_ENST00000511556.1_Missense_Mutation_p.L241R|ZNF135_ENST00000439855.2_Missense_Mutation_p.L229R	p.L187R			WXS	Illumina GAIIx	Phase_I	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1114	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	241					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.560T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.94|11.94	1.789799|1.789799	0.31685|0.31685	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786|ENST00000391699	T;T;T;T;T;T|.	0.53640|.	0.61;0.61;0.61;0.61;0.61;0.61|.	3.5|3.5	3.5|3.5	0.40072|0.40072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.67571|0.67571	0.2907|0.2907	M|M	0.90814|0.90814	3.15|3.15	0.19575|0.19575	N|N	0.999968|0.999968	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.74348|.	0.937;0.983;0.979|.	T|T	0.61038|0.61038	-0.7143|-0.7143	9|6	0.72032|0.87932	D|D	0.01|0	.|.	11.444|11.444	0.50112|0.50112	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	241;229;241|.	E9PEV2;P52742;Q8N1I7|.	.;ZN135_HUMAN;.|.	R|V	241;253;241;229;229;241;187|247	ENSP00000441410:L253R;ENSP00000369437:L241R;ENSP00000444828:L229R;ENSP00000321406:L229R;ENSP00000422074:L241R;ENSP00000427691:L187R|.	ENSP00000321406:L229R|ENSP00000375580:L247V	L|L	+|+	2|1	0|2	ZNF135|ZNF135	63270350|63270350	0.526000|0.526000	0.26298|0.26298	0.103000|0.103000	0.21229|0.21229	0.040000|0.040000	0.13550|0.13550	4.159000|4.159000	0.58157|0.58157	1.615000|1.615000	0.50252|0.50252	0.460000|0.460000	0.39030|0.39030	CTT|TTA		0.473	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		69	130	0	0	0	1	0	69	130					G	58578538	T	G	58578538	3	3	48	1	0	0	0	0	1	0	0	0	17740	1609	56	4	889	4	ZNF135	19	58578538	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	105745	58578538	550445	4149	8617										
ZNF544	27300	broad.mit.edu	37	chr19	58773431	58773431	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttacacataaaagaacgcacActggagaaaaacccttcaaa	5	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58773431A>G	ENST00000596652.1	+	6	1693	c.1459A>G	c.(1459-1461)Act>Gct	p.T487A	CTD-3138B18.5_ENST00000597230.1_RNA|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.T459A|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.T345A|ZNF544_ENST00000269829.4_Missense_Mutation_p.T487A|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.T459A|ZNF544_ENST00000415203.2_Missense_Mutation_p.T459A			Q6NX49	ZN544_HUMAN	zinc finger protein 544	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AAGAACGCACACTGGAGAAAA	0.433																																						ENST00000269829.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(1459-1461)Act>Gct		zinc finger protein 544							82	85	84					19																	58773431		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58773431A>G	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"Zinc fingers, C2H2-type", "-"	16759	protein-coding gene	gene with protein product	"zinc finger protein AF020591"						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1459A>G	19.37:g.58773431A>G	ENSP00000469635:p.Thr487Ala		Somatic				CTD-3138B18.4_ENST00000600029.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600044.1_Missense_Mutation_p.T459A|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.T345A|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000596652.1_Missense_Mutation_p.T487A|ZNF544_ENST00000600220.1_Missense_Mutation_p.T459A|ZNF544_ENST00000415203.2_Missense_Mutation_p.T459A|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000595981.1_Intron	p.T487A	NM_014480.2	NP_055295.2	WXS	Illumina GAIIx	Phase_I	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	1933	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	487					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.1459A>G	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.790119	0.31685	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.44482	0.92;0.92	2.34	1.17	0.20885	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28928	0.0718	N	0.12611	0.24	0.80722	D	1	B;P;P	0.46706	0.363;0.883;0.883	B;P;B	0.48795	0.164;0.59;0.285	T	0.07083	-1.0791	9	0.62326	D	0.03	.	6.1952	0.20546	0.7404:0.2596:0.0:0.0	.	459;459;487	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	A	487;459	ENSP00000269829:T487A;ENSP00000394341:T459A	ENSP00000269829:T487A	T	+	1	0	ZNF544	63465243	0.965000	0.33210	0.013000	0.15412	0.032000	0.12392	2.154000	0.42291	0.109000	0.17891	0.334000	0.21626	ACT		0.433	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		27	73	0	0	0	1	0	27	73					G	58773431	A	G	58773431	3	3	48	1	0	0	0	0	1	0	0	0	17992	159	6	4	1473	4	ZNF544	19	58773431	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	194893	58773431	355552	4150	8618										
UBE2M	9040	broad.mit.edu	37	chr19	59067707	59067707	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagagatactgcaggccataAattatggagtttatcgtaag	10	5	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:59067707A>C	ENST00000253023.3	-	5	965	c.387T>G	c.(385-387)atT>atG	p.I129M	CHMP2A_ENST00000312547.2_5'Flank|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|CHMP2A_ENST00000600118.1_5'Flank|AC016629.8_ENST00000600534.1_RNA|CHMP2A_ENST00000601220.1_5'Flank	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	129					cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		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)		GCAGGCCATAAATTATGGAGT	0.547																																						ENST00000253023.3																			0				large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5						c.(385-387)atT>atG		ubiquitin-conjugating enzyme E2M							90	90	90					19																	59067707		2203	4300	6503	SO:0001583	missense	9040				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity	g.chr19:59067707A>C	AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"Ubiquitin-conjugating enzymes E2"	12491	protein-coding gene	gene with protein product		603173	"ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)", "ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.387T>G	19.37:g.59067707A>C	ENSP00000253023:p.Ile129Met		Somatic					p.I129M	NM_003969.3	NP_003960.1	WXS	Illumina GAIIx	Phase_I	P61081	UBC12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	5	965	-		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)	129					O76069|Q8VC50	Missense_Mutation	SNP	ENST00000253023.3	37	c.387T>G	CCDS12987.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.335733	0.41398	.	.	ENSG00000130725	ENST00000253023	T	0.73681	-0.77	4.62	2.49	0.30216	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.076440	0.46758	D	0.000262	T	0.76941	0.4058	M	0.69523	2.12	0.40216	D	0.977686	P	0.45569	0.861	P	0.54210	0.745	T	0.74478	-0.3652	10	0.44086	T	0.13	-30.8289	4.9304	0.13914	0.7392:0.0:0.0939:0.1669	.	129	P61081	UBC12_HUMAN	M	129	ENSP00000253023:I129M	ENSP00000253023:I129M	I	-	3	3	UBE2M	63759519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.730000	0.38125	0.880000	0.35969	0.533000	0.62120	ATT		0.547	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467097.1	NM_003969		28	63	0	0	0	1	0	28	63					C	59067707	A	C	59067707	3	2	48	1	0	0	0	0	1	0	0	0	16880	10	1	4	172	4	UBE2M	19	59067707	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	294276	59067707	61276	4151	8619										
UBE2M	9040	broad.mit.edu	37	chr19	59068073	59068073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgaggatgttgaggcagaCgttgccctcgaggtcaatgt	14	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:59068073C>T	ENST00000253023.3	-	4	906	c.328G>A	c.(328-330)Gtc>Atc	p.V110I	CHMP2A_ENST00000312547.2_5'Flank|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|CHMP2A_ENST00000600118.1_5'Flank|AC016629.8_ENST00000600534.1_RNA|CHMP2A_ENST00000601220.1_5'Flank	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	110					cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)	p.V110I(1)		large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		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)		TTGAGGCAGACGTTGCCCTCG	0.587																																						ENST00000253023.3																			1	Substitution - Missense(1)	p.V110I(1)	ovary(1)	large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5						c.(328-330)Gtc>Atc		ubiquitin-conjugating enzyme E2M							88	78	81					19																	59068073		2203	4300	6503	SO:0001583	missense	9040				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity	g.chr19:59068073C>T	AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"Ubiquitin-conjugating enzymes E2"	12491	protein-coding gene	gene with protein product		603173	"ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)", "ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.328G>A	19.37:g.59068073C>T	ENSP00000253023:p.Val110Ile		Somatic					p.V110I	NM_003969.3	NP_003960.1	WXS	Illumina GAIIx	Phase_I	P61081	UBC12_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)	4	906	-		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)	110					O76069|Q8VC50	Missense_Mutation	SNP	ENST00000253023.3	37	c.328G>A	CCDS12987.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473574	0.43942	.	.	ENSG00000130725	ENST00000253023	T	0.72835	-0.69	4.77	3.73	0.42828	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000017	T	0.56396	0.1982	L	0.31065	0.9	0.48511	D	0.999669	P	0.44090	0.826	B	0.41646	0.362	T	0.51616	-0.8683	10	0.19147	T	0.46	-28.0597	10.9527	0.47339	0.0:0.9085:0.0:0.0915	.	110	P61081	UBC12_HUMAN	I	110	ENSP00000253023:V110I	ENSP00000253023:V110I	V	-	1	0	UBE2M	63759885	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.783000	0.62403	1.384000	0.46424	0.655000	0.94253	GTC		0.587	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467097.1	NM_003969		10	28	0	0	0	1	0	10	28					T	59068073	C	T	59068073	3	4	48	1	0	0	0	0	1	0	0	0	16880	536	19	1	235	1	UBE2M	19	59068073	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	366	59068073	60910	4152	8620										
DEFB126	81623	broad.mit.edu	37	chr20	126299	126299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gactactgcttcgatgtcttCgatggctcctacccccgttt	8	14	1	0	rs376573096		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:126299C>T	ENST00000382398.3	+	2	562	c.302C>T	c.(301-303)tCg>tTg	p.S101L	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	101					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TCGATGTCTTCGATGGCTCCT	0.453																																						ENST00000382398.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(301-303)tCg>tTg		defensin, beta 126		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	125	122	123		302	-1	0	20		123	0,8600		0,0,4300	no	missense	DEFB126	NM_030931.2	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	101/112	126299	1,13005	2203	4300	6503	SO:0001583	missense	81623				defense response to bacterium	extracellular region		g.chr20:126299C>T		CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"Defensins, beta"	15900	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 8"	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.302C>T	20.37:g.126299C>T	ENSP00000371835:p.Ser101Leu		Somatic				DEFB126_ENST00000542572.1_3'UTR	p.S101L	NM_030931.2	NP_112193.1	WXS	Illumina GAIIx	Phase_I	Q9BYW3	DB126_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	562	+		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)	101					Q562G3|Q9H1M5	Missense_Mutation	SNP	ENST00000382398.3	37	c.302C>T	CCDS12990.1	.	.	.	.	.	.	.	.	.	.	C	6.189	0.402991	0.11696	2.27E-4	0.0	ENSG00000125788	ENST00000382398	T	0.37752	1.18	1.18	-1.03	0.10102	.	.	.	.	.	T	0.17280	0.0415	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.04013	0.001	T	0.18053	-1.0349	9	0.51188	T	0.08	-2.7273	2.5646	0.04780	0.0:0.4517:0.3171:0.2312	.	101	Q9BYW3	DB126_HUMAN	L	101	ENSP00000371835:S101L	ENSP00000371835:S101L	S	+	2	0	DEFB126	74299	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-4.206000	0.00274	-0.335000	0.08451	-0.273000	0.10243	TCG		0.453	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931		48	73	0	0	0	1	0	48	73					T	126299	C	T	126299	3	4	48	1	0	0	0	0	1	0	0	0	4414	893	31	1	308	1	DEFB126	20	126299	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08		126299	62899221	4153	8621										
ANGPT4	51378	broad.mit.edu	37	chr20	858965	858965	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgctccccagctgggtctccGaagccctatagggaggggag	15	12	1	0	rs112090528	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:858965G>A	ENST00000381922.3	-	7	1161	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	ANGPT4_ENST00000546022.1_Silent_p.F353F	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	353	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						CTGGGTCTCCGAAGCCCTATA	0.632																																					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.(1057-1059)ttC>ttT		angiopoietin 4		G		3,4403	6.2+/-15.9	0,3,2200	30	29	29		1059	0.6	1	20	dbSNP_132	29	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ANGPT4	NM_015985.2		0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384		353/504	858965	5,13001	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.chr20:858965G>A	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.1059C>T	20.37:g.858965G>A			Somatic				ANGPT4_ENST00000546022.1_Silent_p.F353F	p.F353F	NM_015985.2	NP_057069.1	WXS	Illumina GAIIx	Phase_I	Q9Y264	ANGP4_HUMAN			7	1161	-			353			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	c.1059C>T	CCDS13009.1																																																																																				0.632	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		13	19	0	0	0	1	0	13	19					A	858965	G	A	858965	2	1	48	1	0	0	0	0	0	0	0	1	612	1049	37	1		1	ANGPT4	20	858965	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	732666	858965	62166555	4154	8622										
SNPH	9751	broad.mit.edu	37	chr20	1285531	1285531	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcggctcgcagggacacagaGattgatgacctgaagacgca	13	10	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:1285531G>A	ENST00000381873.3	+	6	554	c.318G>A	c.(316-318)gaG>gaA	p.E106E	SNPH_ENST00000381867.1_Silent_p.E150E	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	106					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						GGGACACAGAGATTGATGACC	0.627																																						ENST00000381867.1																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(448-450)gaG>gaA		syntaphilin							61	58	59					20																	1285531		2203	4300	6503	SO:0001819	synonymous_variant	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1285531G>A		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.318G>A	20.37:g.1285531G>A			Somatic				SNPH_ENST00000381873.3_Silent_p.E106E	p.E150E			WXS	Illumina GAIIx	Phase_I	O15079	SNPH_HUMAN			7	1092	+			106					Q8IYI3	Silent	SNP	ENST00000381873.3	37	c.450G>A	CCDS13012.1																																																																																				0.627	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		29	72	0	0	0	1	0	29	72					A	1285531	G	A	1285531	2	1	48	1	0	0	0	0	0	0	0	1	14865	933	33	3		3	SNPH	20	1285531	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	426566	1285531	61739989	4155	8623										
SIRPB2	284759	broad.mit.edu	37	chr20	1460374	1460374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcactgaggtgccttcatccGatttcatttctgagtgttca	9	10	4	2	rs374055663		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:1460374G>A	ENST00000359801.3	-	2	458	c.422C>T	c.(421-423)tCg>tTg	p.S141L	SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.S3L	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	134					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)		p.S240L(1)|p.S141L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCTTCATCCGATTTCATTTC	0.478																																						ENST00000359801.3																			2	Substitution - Missense(2)	p.S240L(1)|p.S141L(1)	large_intestine(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(421-423)tCg>tTg		signal-regulatory protein beta 2		G	LEU/SER,	2,3134		0,2,1566	181	156	164		422,	-0.9	0	20		164	0,7164		0,0,3582	no	missense,intron	SIRPB2	NM_001122962.1,NM_001134836.1	145,	0,2,5148	AA,AG,GG		0.0,0.0638,0.0194	benign,	141/343,	1460374	2,10298	1568	3582	5150	SO:0001583	missense	284759					integral to membrane		g.chr20:1460374G>A	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16247	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type 1-like", "protein tyrosine phosphatase, non-receptor type substrate 1-like 3"	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.422C>T	20.37:g.1460374G>A	ENSP00000352849:p.Ser141Leu		Somatic				SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.S3L	p.S141L	NM_001122962.1	NP_001116434.1	WXS	Illumina GAIIx	Phase_I	Q5JXA9	SIRB2_HUMAN			2	458	-			141			Ig-like V-type 1.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.422C>T	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	G	5.872	0.344962	0.11126	6.38E-4	0.0	ENSG00000196209	ENST00000359801;ENST00000537284	T;T	0.39406	1.08;4.32	4.03	-0.905	0.10527	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.051780	0.02728	N	0.114791	T	0.17152	0.0412	N	0.01874	-0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.18808	-1.0325	10	0.11485	T	0.65	-16.8466	7.1865	0.25803	0.55:0.0:0.45:0.0	.	3;141	F5H204;Q5JXA9	.;SIRB2_HUMAN	L	141;3	ENSP00000352849:S141L;ENSP00000445632:S3L	ENSP00000352849:S141L	S	-	2	0	SIRPB2	1408374	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	1.125000	0.31332	-0.048000	0.13401	-0.140000	0.14226	TCG		0.478	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		55	119	0	0	0	1	0	55	119					A	1460374	G	A	1460374	3	1	48	1	0	0	0	0	1	0	0	0	14349	1059	37	1	622	1	SIRPB2	20	1460374	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	174843	1460374	61565146	4156	8624										
SIRPG	55423	broad.mit.edu	37	chr20	1617063	1617063	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agggtgatgtctctgggagaGaagccatgggactcacaggt	16	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:1617063G>T	ENST00000303415.3	-	3	583	c.519C>A	c.(517-519)ttC>ttA	p.F173L	SIRPG_ENST00000381583.2_Missense_Mutation_p.F173L|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000381580.1_Missense_Mutation_p.F140L|SIRPG_ENST00000216927.4_Missense_Mutation_p.F173L|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	173	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)		p.F173L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTCTGGGAGAGAAGCCATGGG	0.557																																						ENST00000381580.1																			1	Substitution - Missense(1)	p.F173L(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.(418-420)ttC>ttA		signal-regulatory protein gamma							147	133	138					20																	1617063		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.chr20:1617063G>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.519C>A	20.37:g.1617063G>T	ENSP00000305529:p.Phe173Leu		Somatic				SIRPG_ENST00000303415.3_Missense_Mutation_p.F173L|SIRPG_ENST00000216927.4_Missense_Mutation_p.F173L|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Missense_Mutation_p.F173L|RP11-77C3.3_ENST00000456177.1_RNA	p.F140L			WXS	Illumina GAIIx	Phase_I	Q9P1W8	SIRPG_HUMAN			3	599	-			173					B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.420C>A	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	13.88	2.368291	0.42003	.	.	ENSG00000089012	ENST00000381580;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	2.09	2.09	0.27110	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.26484	0.0647	M	0.91972	3.26	0.34419	D	0.697218	P;D	0.58268	0.571;0.982	B;P	0.58660	0.408;0.843	T	0.45702	-0.9243	10	0.87932	D	0	.	7.6109	0.28129	0.0:0.0:1.0:0.0	.	173;173	Q9P1W8-4;Q9P1W8	.;SIRPG_HUMAN	L	140;173;173;173	ENSP00000370992:F140L;ENSP00000305529:F173L;ENSP00000370995:F173L;ENSP00000216927:F173L	ENSP00000216927:F173L	F	-	3	2	SIRPG	1565063	1.000000	0.71417	0.121000	0.21740	0.010000	0.07245	1.541000	0.36126	1.148000	0.42385	0.404000	0.27445	TTC		0.557	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		37	50	1	0	6.53348e-20	1	8.92126e-20	37	50					T	1617063	G	T	1617063	3	4	48	1	0	0	0	0	1	0	0	0	14351	933	33	2	656	2	SIRPG	20	1617063	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	156689	1617063	61408457	4157	8625										
TMC2	117532	broad.mit.edu	37	chr20	2597824	2597824	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgagcagcaacgtaccccatGaacgcgtgttcaaagcctcc	9	14	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2597824G>T	ENST00000358864.1	+	16	2062	c.2047G>T	c.(2047-2049)Gaa>Taa	p.E683*	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	683					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CGTACCCCATGAACGCGTGTT	0.582																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2047-2049)Gaa>Taa		transmembrane channel-like 2							194	135	155					20																	2597824		2203	4300	6503	SO:0001587	stop_gained	117532					integral to membrane		g.chr20:2597824G>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2047G>T	20.37:g.2597824G>T	ENSP00000351732:p.Glu683*		Somatic				TMC2_ENST00000496948.1_3'UTR	p.E683*	NM_080751.2	NP_542789.2	WXS	Illumina GAIIx	Phase_I	Q8TDI7	TMC2_HUMAN			16	2062	+			683					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Nonsense_Mutation	SNP	ENST00000358864.1	37	c.2047G>T	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	39	7.432637	0.98282	.	.	ENSG00000149488	ENST00000358864	.	.	.	5.35	5.35	0.76521	.	0.095322	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-12.9998	16.9259	0.86176	0.0:0.0:1.0:0.0	.	.	.	.	X	683	.	ENSP00000351732:E683X	E	+	1	0	TMC2	2545824	1.000000	0.71417	0.958000	0.39756	0.944000	0.59088	9.869000	0.99810	2.656000	0.90262	0.650000	0.86243	GAA		0.582	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			9	92	1	0	0.000442599	1	0.00046913	9	92					T	2597824	G	T	2597824	4	4	48	1	0	0	0	0	0	1	0	0	16000	1291	45	2	2109	2	TMC2	20	2597824	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	980761	2597824	60427696	4158	8626										
NOP56	10528	broad.mit.edu	37	chr20	2638687	2638687	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaacccaagaaaaagaaatCtttttccaaggaggagttga	8	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2638687C>A	ENST00000329276.5	+	12	2048	c.1532C>A	c.(1531-1533)tCt>tAt	p.S511Y	SNORD86_ENST00000391196.1_RNA|SNORA51_ENST00000606420.1_RNA|SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD57_ENST00000448188.1_RNA|NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	511	Lys-rich.				cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AAAAAGAAATCTTTTTCCAAG	0.448																																						ENST00000329276.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(1531-1533)tCt>tAt		NOP56 ribonucleoprotein							39	49	45					20																	2638687		2193	4289	6482	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2638687C>A	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"spinocerebellar ataxia 36"	614154	"nucleolar protein 5A (56kD with KKE/D repeat)", "nucleolar protein 5A (56kDa with KKE/D repeat)", "NOP56 ribonucleoprotein homolog (yeast)"	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1532C>A	20.37:g.2638687C>A	ENSP00000370589:p.Ser511Tyr		Somatic				NOP56_ENST00000492135.1_3'UTR	p.S511Y	NM_006392.3	NP_006383.2	WXS	Illumina GAIIx	Phase_I	O00567	NOP56_HUMAN			12	2048	+			511			Lys-rich.		Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.1532C>A	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266014	0.59540	.	.	ENSG00000101361	ENST00000329276	T	0.44083	0.93	4.64	3.69	0.42338	.	1.012930	0.07915	N	0.974898	T	0.32763	0.0840	N	0.19112	0.55	0.24281	N	0.995204	B	0.28512	0.214	B	0.31016	0.123	T	0.32052	-0.9921	10	0.62326	D	0.03	-0.1522	11.06	0.47942	0.0:0.8135:0.1865:0.0	.	511	O00567	NOP56_HUMAN	Y	511	ENSP00000370589:S511Y	ENSP00000370589:S511Y	S	+	2	0	NOP56	2586687	0.998000	0.40836	0.982000	0.44146	0.900000	0.52787	2.944000	0.49034	1.537000	0.49254	0.650000	0.86243	TCT		0.448	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		28	51	1	0	8.58068e-18	1	1.15595e-17	28	51					A	2638687	C	A	2638687	3	1	48	1	0	0	0	0	1	0	0	0	10548	913	32	2	1578	2	NOP56	20	2638687	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	40863	2638687	60386833	4159	8627										
IDH3B	3420	broad.mit.edu	37	chr20	2641599	2641599	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agctcccccttatactccatCggggtatgaatctttcctgt	7	13	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2641599C>T	ENST00000380843.4	-	5	384	c.354G>A	c.(352-354)ccG>ccA	p.P118P	IDH3B_ENST00000380851.5_Silent_p.P118P|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	118					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.P118P(1)		breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						TATACTCCATCGGGGTATGAA	0.547																																						ENST00000380843.4																			1	Substitution - coding silent(1)	p.P118P(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						c.(352-354)ccG>ccA		isocitrate dehydrogenase 3 (NAD+) beta	NADH(DB00157)						102	99	100					20																	2641599		2203	4300	6503	SO:0001819	synonymous_variant	3420				isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr20:2641599C>T		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.354G>A	20.37:g.2641599C>T			Somatic				IDH3B_ENST00000380851.5_Silent_p.P118P|IDH3B_ENST00000488299.1_5'UTR	p.P118P	NM_006899.3	NP_008830.2	WXS	Illumina GAIIx	Phase_I	O43837	IDH3B_HUMAN			5	384	-			118					B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Silent	SNP	ENST00000380843.4	37	c.354G>A	CCDS13032.1																																																																																				0.547	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1			24	35	0	0	0	1	0	24	35					T	2641599	C	T	2641599	2	4	48	1	0	0	0	0	0	0	0	1	7506	871	31	1		1	IDH3B	20	2641599	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2912	2641599	60383921	4160	8628										
VPS16	64601	broad.mit.edu	37	chr20	2841107	2841107	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcctcaggaagtgctccagAaccgggttctggatgcccgg	13	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2841107A>T	ENST00000380445.3	+	5	454	c.382A>T	c.(382-384)Aac>Tac	p.N128Y	VPS16_ENST00000380443.3_5'Flank|VPS16_ENST00000380469.3_Missense_Mutation_p.N128Y	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	128					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						AGTGCTCCAGAACCGGGTTCT	0.602																																						ENST00000380445.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(382-384)Aac>Tac		vacuolar protein sorting 16 homolog (S. cerevisiae)							77	75	76					20																	2841107		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2841107A>T	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.382A>T	20.37:g.2841107A>T	ENSP00000369810:p.Asn128Tyr		Somatic				VPS16_ENST00000380469.3_Missense_Mutation_p.N128Y	p.N128Y	NM_022575.2	NP_072097.2	WXS	Illumina GAIIx	Phase_I	Q9H269	VPS16_HUMAN			5	454	+			128					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.382A>T	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.957779	0.73902	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000417508	T;T	0.44083	0.93;0.93	5.95	5.95	0.96441	Vps16, N-terminal (1);	0.083612	0.85682	D	0.000000	T	0.41442	0.1159	N	0.20881	0.62	0.80722	D	1	D;D	0.64830	0.994;0.975	P;P	0.58077	0.827;0.832	T	0.17258	-1.0375	10	0.07482	T	0.82	-34.1489	14.3621	0.66779	1.0:0.0:0.0:0.0	.	128;128	Q9H269-2;Q9H269	.;VPS16_HUMAN	Y	128;128;10;10	ENSP00000369810:N128Y;ENSP00000369836:N128Y	ENSP00000369810:N128Y	N	+	1	0	VPS16	2789107	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	6.712000	0.74681	2.280000	0.76307	0.460000	0.39030	AAC		0.602	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		30	49	0	0	0	1	0	30	49					T	2841107	A	T	2841107	3	4	48	1	0	0	0	0	1	0	0	0	17208	246	9	4	400	4	VPS16	20	2841107	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	199508	2841107	60184413	4161	8629										
VPS16	64601	broad.mit.edu	37	chr20	2843543	2843543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcgtgtgctcaatgctgttCgggactatcacatcgggatc	12	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2843543C>T	ENST00000380445.3	+	13	1366	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	VPS16_ENST00000380443.3_Missense_Mutation_p.R118W|VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_3'UTR|PTPRA_ENST00000380393.3_5'Flank	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	432					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						CAATGCTGTTCGGGACTATCA	0.587																																						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.(1294-1296)Cgg>Tgg		vacuolar protein sorting 16 homolog (S. cerevisiae)							125	120	122					20																	2843543		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2843543C>T	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1294C>T	20.37:g.2843543C>T	ENSP00000369810:p.Arg432Trp		Somatic				VPS16_ENST00000380469.3_Intron|VPS16_ENST00000380443.3_Missense_Mutation_p.R118W|VPS16_ENST00000481812.2_3'UTR	p.R432W	NM_022575.2	NP_072097.2	WXS	Illumina GAIIx	Phase_I	Q9H269	VPS16_HUMAN			13	1366	+			432					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.1294C>T	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948321	0.73787	.	.	ENSG00000215305	ENST00000380445;ENST00000380443	T;T	0.59772	0.24;0.26	5.08	4.11	0.48088	.	0.064498	0.64402	D	0.000006	T	0.80292	0.4596	M	0.93328	3.405	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.976	D	0.84850	0.0813	10	0.87932	D	0	-24.4971	12.2042	0.54342	0.1778:0.8222:0.0:0.0	.	118;432	Q5JUA8;Q9H269	.;VPS16_HUMAN	W	432;118	ENSP00000369810:R432W;ENSP00000369808:R118W	ENSP00000369808:R118W	R	+	1	2	VPS16	2791543	0.851000	0.29673	0.943000	0.38184	0.992000	0.81027	1.578000	0.36525	1.308000	0.44962	0.561000	0.74099	CGG		0.587	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		72	105	0	0	0	1	0	72	105					T	2843543	C	T	2843543	3	4	48	1	0	0	0	0	1	0	0	0	17208	875	31	1	1344	1	VPS16	20	2843543	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2436	2843543	60181977	4162	8630										
FASTKD5	60493	broad.mit.edu	37	chr20	3127883	3127883	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagccttaatttggctacatTttcagccggcgtggcttctc	9	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:3127883T>G	ENST00000380266.3	-	2	2155	c.1834A>C	c.(1834-1836)Aat>Cat	p.N612H	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	612					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						TTGGCTACATTTTCAGCCGGC	0.428																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(1834-1836)Aat>Cat		FAST kinase domains 5							65	70	68					20																	3127883		2203	4300	6503	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3127883T>G	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1834A>C	20.37:g.3127883T>G	ENSP00000369618:p.Asn612His		Somatic				UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	p.N612H	NM_021826.4	NP_068598.1	WXS	Illumina GAIIx	Phase_I	Q7L8L6	FAKD5_HUMAN			2	2155	-			612					Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.1834A>C	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	T	0.913	-0.718450	0.03182	.	.	ENSG00000215251	ENST00000380266	T	0.14516	2.5	5.44	2.05	0.26809	.	0.830532	0.10473	N	0.670510	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	B	0.24675	0.109	B	0.23716	0.048	T	0.39143	-0.9628	10	0.41790	T	0.15	.	4.3448	0.11127	0.1697:0.6146:0.0:0.2157	.	612	Q7L8L6	FAKD5_HUMAN	H	612	ENSP00000369618:N612H	ENSP00000369618:N612H	N	-	1	0	FASTKD5	3075883	0.000000	0.05858	0.001000	0.08648	0.191000	0.23601	0.136000	0.15974	0.205000	0.20568	0.402000	0.26972	AAT		0.428	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		40	65	0	0	0	1	0	40	65					G	3127883	T	G	3127883	3	3	48	1	0	0	0	0	1	0	0	0	5696	1841	64	4	464	4	FASTKD5	20	3127883	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	284340	3127883	59897637	4163	8631										
FASTKD5	60493	broad.mit.edu	37	chr20	3129698	3129698	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtatcttacaagttttaatgActtgagagtagctgccattc	8	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:3129698A>G	ENST00000380266.3	-	2	340	c.19T>C	c.(19-21)Tca>Cca	p.S7P	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	7					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						AGTTTTAATGACTTGAGAGTA	0.453																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(19-21)Tca>Cca		FAST kinase domains 5							75	70	72					20																	3129698		2203	4300	6503	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3129698A>G	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.19T>C	20.37:g.3129698A>G	ENSP00000369618:p.Ser7Pro		Somatic				UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	p.S7P	NM_021826.4	NP_068598.1	WXS	Illumina GAIIx	Phase_I	Q7L8L6	FAKD5_HUMAN			2	340	-			7					Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.19T>C	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	A	8.126	0.781909	0.16189	.	.	ENSG00000215251	ENST00000380266	T	0.14640	2.49	5.08	-0.598	0.11649	.	4.826620	0.01612	U	0.022570	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B	0.29909	0.261	B	0.22601	0.04	T	0.38520	-0.9657	10	0.66056	D	0.02	.	10.7418	0.46158	0.5689:0.0:0.4311:0.0	.	7	Q7L8L6	FAKD5_HUMAN	P	7	ENSP00000369618:S7P	ENSP00000369618:S7P	S	-	1	0	FASTKD5	3077698	0.000000	0.05858	0.009000	0.14445	0.220000	0.24768	-0.719000	0.04974	-0.277000	0.09193	0.379000	0.24179	TCA		0.453	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		16	24	0	0	0	1	0	16	24					G	3129698	A	G	3129698	3	3	48	1	0	0	0	0	1	0	0	0	5696	275	10	4	2279	4	FASTKD5	20	3129698	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1815	3129698	59895822	4164	8632										
SIGLEC1	6614	broad.mit.edu	37	chr20	3680010	3680010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattcaggtaccaggagaagCgggcatcaggtgtggggctt	16	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:3680010C>T	ENST00000344754.4	-	7	1624	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R542H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	542	Ig-like C2-type 5.				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						CCAGGAGAAGCGGGCATCAGG	0.672																																						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.(1624-1626)cGc>cAc		sialic acid binding Ig-like lectin 1, sialoadhesin							47	34	38					20																	3680010		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.chr20:3680010C>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.1625G>A	20.37:g.3680010C>T	ENSP00000341141:p.Arg542His		Somatic				SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R542H	p.R542H	NM_023068.3	NP_075556.1	WXS	Illumina GAIIx	Phase_I	Q9BZZ2	SN_HUMAN			7	1624	-			542			Ig-like C2-type 5.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.1625G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938744	0.52972	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.13196	2.61;2.61	5.46	2.04	0.26737	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.42420	D	0.000715	T	0.20007	0.0481	L	0.29908	0.895	0.34570	D	0.713372	D;D	0.89917	1.0;0.999	D;D	0.73380	0.98;0.977	T	0.17137	-1.0379	10	0.52906	T	0.07	.	7.3644	0.26764	0.3:0.613:0.0:0.087	.	542;542	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	H	542	ENSP00000341141:R542H;ENSP00000202578:R542H	ENSP00000202578:R542H	R	-	2	0	SIGLEC1	3628010	0.009000	0.17119	0.969000	0.41365	0.433000	0.31745	-0.171000	0.09883	0.657000	0.30906	0.655000	0.94253	CGC		0.672	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		14	10	0	0	0	1	0	14	10					T	3680010	C	T	3680010	3	4	48	1	0	0	0	0	1	0	0	0	14320	768	27	1	3564	1	SIGLEC1	20	3680010	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	550312	3680010	59345510	4165	8633										
PRNP	5621	broad.mit.edu	37	chr20	4680119	4680119	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtggtggctggggacagcctCatggtggtggctggggtcaa	20	7	2	0	rs144328292		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:4680119C>A	ENST00000379440.4	+	2	540	c.253C>A	c.(253-255)Cat>Aat	p.H85N	PRNP_ENST00000430350.2_Missense_Mutation_p.H85N	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	14						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						GGGACAGCCTCATGGTGGTGG	0.647																																						ENST00000379440.4																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						c.(253-255)Cat>Aat		prion protein	Tetracycline(DB00759)						28	28	28					20																	4680119		2201	4300	6501	SO:0001583	missense	5621				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	g.chr20:4680119C>A	M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"CD molecules"	9449	protein-coding gene	gene with protein product	"Creutzfeldt-Jakob disease", "Gerstmann-Strausler-Scheinker syndrome", "fatal familial insomnia", "p27-30"	176640	"prion protein (p27-30)"	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.253C>A	20.37:g.4680119C>A	ENSP00000368752:p.His85Asn		Somatic				PRNP_ENST00000430350.2_Missense_Mutation_p.H85N	p.H85N	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	WXS	Illumina GAIIx	Phase_I	P04156	PRIO_HUMAN			2	540	+			85			5 X 8 AA tandem repeats of P-H-G-G-G-W-G- Q.|Interaction with GRB2, ERI3 and SYN1 (By similarity).			Missense_Mutation	SNP	ENST00000379440.4	37	c.253C>A	CCDS13080.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623810	0.66901	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;T	0.91577	-2.65;-2.65;-2.87;-1.42	5.02	5.02	0.67125	.	0.106709	0.41605	D	0.000857	D	0.94411	0.8202	M	0.69823	2.125	0.45914	D	0.998757	D;D;P	0.71674	0.958;0.998;0.948	D;D;P	0.79784	0.943;0.993;0.684	D	0.94685	0.7869	10	0.72032	D	0.01	-19.9082	14.1892	0.65628	0.0:1.0:0.0:0.0	.	85;85;85	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	N	85;85;85;24;85	ENSP00000368752:H85N;ENSP00000399376:H85N;ENSP00000411599:H85N;ENSP00000415284:H85N	ENSP00000368752:H85N	H	+	1	0	PRNP	4628119	0.994000	0.37717	1.000000	0.80357	0.991000	0.79684	3.412000	0.52679	2.496000	0.84212	0.655000	0.94253	CAT		0.647	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		15	59	1	0	6.31663e-08	1	7.35827e-08	15	59					A	4680119	C	A	4680119	3	1	48	1	0	0	0	0	1	0	0	0	12556	826	29	2	255	2	PRNP	20	4680119	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1000109	4680119	58345401	4166	8634										
PRND	23627	broad.mit.edu	37	chr20	4705395	4705395	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcaagcaaggccgcaagctCgacattgacttcggagccga	11	12	1	1	rs369768460		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:4705395C>T	ENST00000305817.2	+	2	269	c.198C>T	c.(196-198)ctC>ctT	p.L66L		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	66	Globular.				protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GCCGCAAGCTCGACATTGACT	0.602																																						ENST00000305817.2																			0				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						c.(196-198)ctC>ctT		prion protein 2 (dublet)		C		0,4406		0,0,2203	75	56	62		198	-10.7	0	20		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PRND	NM_012409.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		66/177	4705395	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23627				protein homooligomerization	anchored to membrane|plasma membrane		g.chr20:4705395C>T	AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"prion-like protein doppel"	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.198C>T	20.37:g.4705395C>T			Somatic					p.L66L	NM_012409.2	NP_036541.2	WXS	Illumina GAIIx	Phase_I	Q9UKY0	PRND_HUMAN			2	269	+			66			Globular.		A7U7M5|Q9H311|Q9H312|Q9NTM4	Silent	SNP	ENST00000305817.2	37	c.198C>T	CCDS13081.1																																																																																				0.602	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	NM_012409		25	45	0	0	0	1	0	25	45					T	4705395	C	T	4705395	2	4	48	1	0	0	0	0	0	0	0	1	12555	871	31	1		1	PRND	20	4705395	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	25276	4705395	58320125	4167	8635										
RASSF2	9770	broad.mit.edu	37	chr20	4776603	4776603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagcccctccacaatgaactCgtcttcttcctgcccacaaa	5	17	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:4776603C>T	ENST00000379400.3	-	5	340	c.145G>A	c.(145-147)Gag>Aag	p.E49K	RASSF2_ENST00000379376.2_Missense_Mutation_p.E49K|RASSF2_ENST00000478553.1_5'Flank	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	49					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						ACAATGAACTCGTCTTCTTCC	0.552																																					Melanoma(158;1891 3343 50738)	ENST00000379400.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(145-147)Gag>Aag		Ras association (RalGDS/AF-6) domain family member 2							65	63	64					20																	4776603		2203	4300	6503	SO:0001583	missense	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4776603C>T	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.145G>A	20.37:g.4776603C>T	ENSP00000368710:p.Glu49Lys		Somatic				RASSF2_ENST00000379376.2_Missense_Mutation_p.E49K	p.E49K	NM_014737.2	NP_055552.1	WXS	Illumina GAIIx	Phase_I	P50749	RASF2_HUMAN			5	340	-			49					A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	c.145G>A	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646827	0.67358	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.14144	2.53;2.53	4.89	4.89	0.63831	.	0.121526	0.64402	D	0.000012	T	0.22322	0.0538	M	0.68952	2.095	0.80722	D	1	D	0.63880	0.993	P	0.50109	0.631	T	0.06679	-1.0813	10	0.08837	T	0.75	.	16.8063	0.85706	0.0:1.0:0.0:0.0	.	49	P50749	RASF2_HUMAN	K	49	ENSP00000368710:E49K;ENSP00000368684:E49K	ENSP00000368684:E49K	E	-	1	0	RASSF2	4724603	1.000000	0.71417	0.993000	0.49108	0.841000	0.47740	5.561000	0.67339	2.549000	0.85964	0.563000	0.77884	GAG		0.552	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		6	49	0	0	0	1	0	6	49					T	4776603	C	T	4776603	3	4	48	1	0	0	0	0	1	0	0	0	13101	893	31	1	867	1	RASSF2	20	4776603	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	71208	4776603	58248917	4168	8636										
GPCPD1	56261	broad.mit.edu	37	chr20	5560680	5560680	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctagatttttttaattttttCttggttattgacacaggagg	8	4	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:5560680C>A	ENST00000379019.4	-	7	659	c.447G>T	c.(445-447)aaG>aaT	p.K149N	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	149					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						TTAATTTTTTCTTGGTTATTG	0.338																																						ENST00000379019.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						c.(445-447)aaG>aaT		glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)							54	56	56					20																	5560680		2203	4297	6500	SO:0001583	missense	56261				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	g.chr20:5560680C>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.447G>T	20.37:g.5560680C>A	ENSP00000368305:p.Lys149Asn		Somatic				GPCPD1_ENST00000481038.1_5'UTR	p.K149N	NM_019593.3	NP_062539.1	WXS	Illumina GAIIx	Phase_I	Q9NPB8	GPCP1_HUMAN			7	659	-			149					D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	37	c.447G>T	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169879	0.78452	.	.	ENSG00000125772	ENST00000379019	T	0.52526	0.66	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.52646	-0.8548	10	0.41790	T	0.15	-21.4812	12.8123	0.57647	0.0:0.925:0.0:0.075	.	149	Q9NPB8	GPCP1_HUMAN	N	149	ENSP00000368305:K149N	ENSP00000368305:K149N	K	-	3	2	GPCPD1	5508680	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.960000	0.56752	2.694000	0.91930	0.585000	0.79938	AAG		0.338	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		13	21	1	0	2.27111e-07	1	2.60515e-07	13	21					A	5560680	C	A	5560680	3	1	48	1	0	0	0	0	1	0	0	0	6611	912	32	2	1627	2	GPCPD1	20	5560680	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	784077	5560680	57464840	4169	8637										
C20orf196	149840	broad.mit.edu	37	chr20	5843907	5843907	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagaggccaggagagccaaaAgtatgccctccgcagttttc	11	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:5843907A>G	ENST00000303142.6	+	3	503	c.416A>G	c.(415-417)aAg>aGg	p.K139R		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	139										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						GAGAGCCAAAAGTATGCCCTC	0.537																																						ENST00000303142.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(415-417)aAg>aGg		chromosome 20 open reading frame 196							55	53	54					20																	5843907		2203	4300	6503	SO:0001583	missense	149840							g.chr20:5843907A>G	AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.416A>G	20.37:g.5843907A>G	ENSP00000305875:p.Lys139Arg		Somatic					p.K139R	NM_152504.2	NP_689717.2	WXS	Illumina GAIIx	Phase_I	Q8IYI0	CT196_HUMAN			3	503	+			139					A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	ENST00000303142.6	37	c.416A>G	CCDS13091.1	.	.	.	.	.	.	.	.	.	.	A	8.499	0.863915	0.17250	.	.	ENSG00000171984	ENST00000303142;ENST00000378971;ENST00000442185	T;T	0.48522	0.81;0.81	5.64	-10.1	0.00402	.	0.951703	0.08791	N	0.893194	T	0.22360	0.0539	N	0.25890	0.77	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.07443	-1.0772	10	0.19590	T	0.45	-15.4992	3.9245	0.09257	0.2116:0.426:0.2644:0.098	.	139	Q8IYI0	CT196_HUMAN	R	139;139;186	ENSP00000305875:K139R;ENSP00000410534:K186R	ENSP00000305875:K139R	K	+	2	0	C20orf196	5791907	0.020000	0.18652	0.000000	0.03702	0.236000	0.25371	-0.101000	0.10973	-2.535000	0.00489	-1.303000	0.01326	AAG		0.537	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077882.2	NM_152504		22	35	0	0	0	1	0	22	35					G	5843907	A	G	5843907	3	3	48	1	0	0	0	0	1	0	0	0	2103	72	3	4	422	4	C20orf196	20	5843907	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	283227	5843907	57181613	4170	8638										
CHGB	1114	broad.mit.edu	37	chr20	5904272	5904272	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacctgcaggacactaaagaAaacagggaggaagctaggtt	13	7	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:5904272A>C	ENST00000378961.4	+	4	1686	c.1482A>C	c.(1480-1482)gaA>gaC	p.E494D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	494						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ACACTAAAGAAAACAGGGAGG	0.488																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(1480-1482)gaA>gaC		chromogranin B (secretogranin 1)							68	72	71					20																	5904272		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5904272A>C		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1482A>C	20.37:g.5904272A>C	ENSP00000368244:p.Glu494Asp		Somatic					p.E494D	NM_001819.2	NP_001810.2	WXS	Illumina GAIIx	Phase_I	P05060	SCG1_HUMAN			4	1686	+			494					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.1482A>C	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	A	7.249	0.602819	0.13939	.	.	ENSG00000089199	ENST00000378961	T	0.01963	4.53	5.54	-1.74	0.08056	.	0.709291	0.13604	N	0.375628	T	0.03520	0.0101	M	0.75264	2.295	0.09310	N	1	B	0.24258	0.1	B	0.28916	0.096	T	0.33497	-0.9866	10	0.66056	D	0.02	-6.1819	5.0771	0.14638	0.1718:0.0928:0.5333:0.2022	.	494	P05060	SCG1_HUMAN	D	494	ENSP00000368244:E494D	ENSP00000368244:E494D	E	+	3	2	CHGB	5852272	0.082000	0.21442	0.001000	0.08648	0.029000	0.11900	0.052000	0.14163	-0.115000	0.11915	-0.290000	0.09829	GAA		0.488	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		34	50	0	0	0	1	0	34	50					C	5904272	A	C	5904272	3	2	48	1	0	0	0	0	1	0	0	0	3341	11	1	4	1496	4	CHGB	20	5904272	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	60365	5904272	57121248	4171	8639										
LRRN4	164312	broad.mit.edu	37	chr20	6022404	6022404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctctggccgggctgaggcGagcttatgctgcggtcccac	14	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:6022404G>A	ENST00000378858.4	-	5	1711	c.1487C>T	c.(1486-1488)tCg>tTg	p.S496L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	496					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						GGGCTGAGGCGAGCTTATGCT	0.637																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(1486-1488)tCg>tTg		leucine rich repeat neuronal 4							108	117	114					20																	6022404		2203	4300	6503	SO:0001583	missense	164312					integral to membrane		g.chr20:6022404G>A	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.1487C>T	20.37:g.6022404G>A	ENSP00000368135:p.Ser496Leu		Somatic					p.S496L	NM_152611.4	NP_689824.2	WXS	Illumina GAIIx	Phase_I	Q8WUT4	LRRN4_HUMAN			5	1711	-			496					A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.1487C>T	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172563	0.38315	.	.	ENSG00000125872	ENST00000378858	T	0.57273	0.41	5.15	-6.65	0.01795	.	5.577160	0.00166	N	0.000003	T	0.22360	0.0539	N	0.04508	-0.205	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.18871	-1.0323	10	0.10111	T	0.7	2.4494	3.2983	0.06974	0.5031:0.1141:0.2664:0.1164	.	496	Q8WUT4	LRRN4_HUMAN	L	496	ENSP00000368135:S496L	ENSP00000368135:S496L	S	-	2	0	LRRN4	5970404	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.465000	0.06680	-1.566000	0.01673	0.561000	0.74099	TCG		0.637	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		61	93	0	0	0	1	0	61	93					A	6022404	G	A	6022404	3	1	48	1	0	0	0	0	1	0	0	0	9046	1059	37	1	739	1	LRRN4	20	6022404	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	118132	6022404	57003116	4172	8640										
FERMT1	55612	broad.mit.edu	37	chr20	6057898	6057898	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccttggagcgggtggacaaGaaaatgtagccgccaatgta	13	8	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:6057898G>T	ENST00000217289.4	-	15	2744	c.1956C>A	c.(1954-1956)ttC>ttA	p.F652L	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.F395L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	652	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)				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						GGGTGGACAAGAAAATGTAGC	0.507											OREG0025763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000217289.4																			0				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.(1954-1956)ttC>ttA		fermitin family member 1							87	74	79					20																	6057898		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.chr20:6057898G>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.1956C>A	20.37:g.6057898G>T	ENSP00000217289:p.Phe652Leu		Somatic	OREG0025763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	631	FERMT1_ENST00000536936.1_Missense_Mutation_p.F395L|FERMT1_ENST00000478194.1_5'UTR	p.F652L	NM_017671.4	NP_060141.3	WXS	Illumina GAIIx	Phase_I	Q9BQL6	FERM1_HUMAN			15	2744	-			652			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.1956C>A	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648213	0.87958	.	.	ENSG00000101311	ENST00000217289;ENST00000536936	T;T	0.38077	1.16;1.16	5.78	3.85	0.44370	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.62527	0.2435	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65668	-0.6112	10	0.66056	D	0.02	-15.9864	9.5127	0.39087	0.2131:0.0:0.7869:0.0	.	652	Q9BQL6	FERM1_HUMAN	L	652;395	ENSP00000217289:F652L;ENSP00000441063:F395L	ENSP00000217289:F652L	F	-	3	2	FERMT1	6005898	1.000000	0.71417	0.952000	0.39060	0.984000	0.73092	4.118000	0.57884	0.804000	0.34136	0.655000	0.94253	TTC		0.507	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		21	47	1	0	1.2644e-06	1	1.4261e-06	21	47					T	6057898	G	T	6057898	3	4	48	1	0	0	0	0	1	0	0	0	5825	933	33	2	81	2	FERMT1	20	6057898	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	35494	6057898	56967622	4173	8641										
FERMT1	55612	broad.mit.edu	37	chr20	6069709	6069709	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagataaaccaatattgtttGaaagcttttggtagtaactt	7	4	0	2	rs374069028		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:6069709G>T	ENST00000217289.4	-	10	1955	c.1167C>A	c.(1165-1167)ttC>ttA	p.F389L	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.F132L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	389	FERM.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)				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						AATATTGTTTGAAAGCTTTTG	0.353																																						ENST00000217289.4																			0				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.(1165-1167)ttC>ttA		fermitin family member 1							124	134	131					20																	6069709		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.chr20:6069709G>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.1167C>A	20.37:g.6069709G>T	ENSP00000217289:p.Phe389Leu		Somatic				FERMT1_ENST00000536936.1_Missense_Mutation_p.F132L|FERMT1_ENST00000478194.1_5'UTR	p.F389L	NM_017671.4	NP_060141.3	WXS	Illumina GAIIx	Phase_I	Q9BQL6	FERM1_HUMAN			10	1955	-			389			FERM.|PH.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.1167C>A	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	g	13.92	2.382034	0.42207	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	D;D	0.96300	-3.97;-3.97	5.89	4.93	0.64822	Band 4.1 domain (1);FERM central domain (2);Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.367224	0.35615	N	0.003096	D	0.93291	0.7862	L	0.41492	1.28	0.41499	D	0.988276	B;B	0.11235	0.004;0.0	B;B	0.17979	0.02;0.002	D	0.90533	0.4497	10	0.66056	D	0.02	-28.0447	11.2919	0.49256	0.0679:0.1286:0.8035:0.0	.	389;389	Q9BQL6-4;Q9BQL6	.;FERM1_HUMAN	L	389;132;389	ENSP00000217289:F389L;ENSP00000441063:F132L	ENSP00000217289:F389L	F	-	3	2	FERMT1	6017709	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	5.712000	0.68407	1.488000	0.48433	-0.187000	0.12897	TTC		0.353	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		5	48	1	0	5.9392e-07	1	6.75488e-07	5	48					T	6069709	G	T	6069709	3	4	48	1	0	0	0	0	1	0	0	0	5825	1281	45	2	890	2	FERMT1	20	6069709	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	11811	6069709	56955811	4174	8642										
ISM1	140862	broad.mit.edu	37	chr20	13251302	13251302	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggggcacccttcattgcaaaGagatttccccagatcctttc	8	13	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:13251302G>T	ENST00000262487.4	+	2	296	c.290G>T	c.(289-291)aGa>aTa	p.R97I	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	97						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TCATTGCAAAGAGATTTCCCC	0.498																																						ENST00000262487.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(289-291)aGa>aTa		isthmin 1, angiogenesis inhibitor							100	92	95					20																	13251302		1888	4129	6017	SO:0001583	missense	140862					extracellular region		g.chr20:13251302G>T	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"chromosome 20 open reading frame 82", "isthmin 1 homolog (zebrafish)"	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.290G>T	20.37:g.13251302G>T	ENSP00000262487:p.Arg97Ile		Somatic				TASP1_ENST00000539805.1_Intron	p.R97I	NM_080826.1	NP_543016.1	WXS	Illumina GAIIx	Phase_I	B1AKI9	ISM1_HUMAN			2	296	+			97					Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	c.290G>T	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897517	0.91962	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.50548	0.74;0.76	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.53367	0.1792	L	0.48642	1.525	0.80722	D	1	P	0.49961	0.93	P	0.48030	0.564	T	0.55270	-0.8167	10	0.72032	D	0.01	-25.1921	20.0706	0.97721	0.0:0.0:1.0:0.0	.	97	B1AKI9	ISM1_HUMAN	I	97;51	ENSP00000262487:R97I;ENSP00000409938:R51I	ENSP00000262487:R97I	R	+	2	0	ISM1	13199302	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.113000	0.64640	2.744000	0.94065	0.655000	0.94253	AGA		0.498	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			12	32	1	0	1.08611e-07	1	1.25818e-07	12	32					T	13251302	G	T	13251302	3	4	48	1	0	0	0	0	1	0	0	0	7869	942	33	2	296	2	ISM1	20	13251302	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	7181593	13251302	49774218	4175	8643										
ESF1	51575	broad.mit.edu	37	chr20	13755837	13755837	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttacacctcctttgggtttaAatgaattgaacagagccagc	8	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:13755837A>C	ENST00000202816.1	-	4	1222	c.1115T>G	c.(1114-1116)tTt>tGt	p.F372C		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	372					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						TTTGGGTTTAAATGAATTGAA	0.308																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(1114-1116)tTt>tGt		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							117	120	119					20																	13755837		2203	4300	6503	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13755837A>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.1115T>G	20.37:g.13755837A>C	ENSP00000202816:p.Phe372Cys		Somatic					p.F372C	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	WXS	Illumina GAIIx	Phase_I	Q9H501	ESF1_HUMAN			4	1222	-			372					Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.1115T>G	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	a	23.2	4.389382	0.82902	.	.	ENSG00000089048	ENST00000202816	T	0.78246	-1.16	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.88588	0.6477	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.90070	0.4162	10	0.66056	D	0.02	0.8438	15.5641	0.76277	1.0:0.0:0.0:0.0	.	372	Q9H501	ESF1_HUMAN	C	372	ENSP00000202816:F372C	ENSP00000202816:F372C	F	-	2	0	ESF1	13703837	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.333000	0.96459	2.224000	0.72417	0.520000	0.50463	TTT		0.308	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		35	61	0	0	0	1	0	35	61					C	13755837	A	C	13755837	3	2	48	1	0	0	0	0	1	0	0	0	5253	14	1	4	1484	4	ESF1	20	13755837	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	504535	13755837	49269683	4176	8644										
MACROD2	140733	broad.mit.edu	37	chr20	13982972	13982972	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttagaagagagacgcaaaGaatacctaagagactatatt	8	7	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:13982972G>T	ENST00000310348.4	+	2	85	c.85G>T	c.(85-87)Gaa>Taa	p.E29*	MACROD2_ENST00000217246.4_Nonsense_Mutation_p.E29*			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	29					brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GAGACGCAAAGAATACCTAAG	0.358																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(85-87)Gaa>Taa		MACRO domain containing 2							111	109	110					20																	13982972		2203	4300	6503	SO:0001587	stop_gained	140733							g.chr20:13982972G>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.85G>T	20.37:g.13982972G>T	ENSP00000309809:p.Glu29*		Somatic				MACROD2_ENST00000310348.4_Nonsense_Mutation_p.E29*	p.E29*	NM_080676.5	NP_542407.2	WXS	Illumina GAIIx	Phase_I	A1Z1Q3	MACD2_HUMAN			2	480	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	29					A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Nonsense_Mutation	SNP	ENST00000310348.4	37	c.85G>T	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	41	8.737615	0.98935	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	.	.	.	6.02	6.02	0.97574	.	0.201424	0.41396	D	0.000886	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-7.9824	19.1153	0.93336	0.0:0.0:1.0:0.0	.	.	.	.	X	29	.	ENSP00000217246:E29X	E	+	1	0	MACROD2	13930972	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.377000	0.73145	2.857000	0.98124	0.650000	0.86243	GAA		0.358	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		10	48	1	0	0.000673444	1	0.000709932	10	48					T	13982972	G	T	13982972	4	4	48	1	0	0	0	0	0	1	0	0	9155	943	33	2	91	2	MACROD2	20	13982972	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	227135	13982972	49042548	4177	8645										
KIF16B	55614	broad.mit.edu	37	chr20	16359822	16359822	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttccttttctacttgataaAgagtgttgtctaagctgaga	8	6	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:16359822A>C	ENST00000354981.2	-	19	2982	c.2825T>G	c.(2824-2826)cTt>cGt	p.L942R	KIF16B_ENST00000355755.3_Missense_Mutation_p.L942R|KIF16B_ENST00000378003.2_Missense_Mutation_p.L168R|KIF16B_ENST00000408042.1_Missense_Mutation_p.L942R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	942	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						TACTTGATAAAGAGTGTTGTC	0.438																																						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.(2824-2826)cTt>cGt		kinesin family member 16B							141	134	136					20																	16359822		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.chr20:16359822A>C	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.2825T>G	20.37:g.16359822A>C	ENSP00000347076:p.Leu942Arg		Somatic				KIF16B_ENST00000378003.2_Missense_Mutation_p.L168R|KIF16B_ENST00000355755.3_Missense_Mutation_p.L942R|KIF16B_ENST00000408042.1_Missense_Mutation_p.L942R	p.L942R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	WXS	Illumina GAIIx	Phase_I	Q96L93	KI16B_HUMAN			19	2982	-			942			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.2825T>G	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.881886	0.51908	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.41488	0.1161	L	0.59436	1.845	0.53005	D	0.999966	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	T	0.12016	-1.0564	10	0.28530	T	0.3	.	14.6987	0.69142	1.0:0.0:0.0:0.0	.	942;942;942;942	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	R	942;942;786;168;942	ENSP00000347076:L942R;ENSP00000347995:L942R;ENSP00000367242:L168R;ENSP00000384164:L942R	ENSP00000347076:L942R	L	-	2	0	KIF16B	16307822	1.000000	0.71417	0.876000	0.34364	0.112000	0.19704	7.238000	0.78173	1.962000	0.57031	0.533000	0.62120	CTT		0.438	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		39	81	0	0	0	1	0	39	81					C	16359822	A	C	16359822	3	2	48	1	0	0	0	0	1	0	0	0	8287	72	3	4	1160	4	KIF16B	20	16359822	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2376850	16359822	46665698	4178	8646										
RRBP1	6238	broad.mit.edu	37	chr20	17640992	17640992	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttcttctcgactttctggTggtgagttttcgccatctcc	8	11	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:17640992T>C	ENST00000377813.1	-	3	464	c.161A>G	c.(160-162)cAc>cGc	p.H54R	RRBP1_ENST00000246043.4_Missense_Mutation_p.H54R|RRBP1_ENST00000377807.2_Missense_Mutation_p.H54R|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000360807.4_Missense_Mutation_p.H54R			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	54					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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GACTTTCTGGTGGTGAGTTTT	0.448																																						ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(160-162)cAc>cGc		ribosome binding protein 1							75	60	65					20																	17640992		2203	4300	6503	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17640992T>C	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.161A>G	20.37:g.17640992T>C	ENSP00000367044:p.His54Arg		Somatic				RRBP1_ENST00000377807.2_Missense_Mutation_p.H54R|RRBP1_ENST00000360807.4_Missense_Mutation_p.H54R|RRBP1_ENST00000246043.4_Missense_Mutation_p.H54R|RRBP1_ENST00000455029.2_Intron	p.H54R			WXS	Illumina GAIIx	Phase_I	Q9P2E9	RRBP1_HUMAN			3	464	-			54					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.161A>G		.	.	.	.	.	.	.	.	.	.	T	11.31	1.601497	0.28534	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000398782	T;T;T;T;D	0.98345	1.59;2.0;1.59;2.0;-4.88	4.5	3.3	0.37823	.	0.000000	0.35151	N	0.003412	D	0.94149	0.8123	L	0.36672	1.1	0.80722	D	1	B	0.15473	0.013	B	0.10450	0.005	D	0.88812	0.3292	10	0.05620	T	0.96	-19.8966	9.5901	0.39541	0.0:0.0:0.3215:0.6785	.	54	Q9P2E9-3	.	R	54	ENSP00000354045:H54R;ENSP00000367044:H54R;ENSP00000367038:H54R;ENSP00000246043:H54R;ENSP00000381762:H54R	ENSP00000246043:H54R	H	-	2	0	RRBP1	17588992	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.666000	0.54540	1.811000	0.52892	0.459000	0.35465	CAC		0.448	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		3	22	0	0	0	1	0	3	22					C	17640992	T	C	17640992	3	2	48	1	0	0	0	0	1	0	0	0	13693	1696	59	4	2868	4	RRBP1	20	17640992	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1281170	17640992	45384528	4179	8647										
ZNF133	7692	broad.mit.edu	37	chr20	18296758	18296758	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgggcacagcttcagccaGaattcaaccctcatctctca	7	14	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:18296758G>T	ENST00000316358.4	+	4	1360	c.1263G>T	c.(1261-1263)caG>caT	p.Q421H	ZNF133_ENST00000402618.2_Missense_Mutation_p.Q358H|ZNF133_ENST00000538547.1_Missense_Mutation_p.Q326H|ZNF133_ENST00000535822.1_Missense_Mutation_p.Q326H|ZNF133_ENST00000401790.1_Missense_Mutation_p.Q421H|ZNF133_ENST00000377671.3_Missense_Mutation_p.Q420H|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000396026.3_Missense_Mutation_p.Q424H|ZNF133_ENST00000462170.1_3'UTR	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	421					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GCTTCAGCCAGAATTCAACCC	0.562																																						ENST00000377671.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1258-1260)caG>caT		zinc finger protein 133							83	88	86					20																	18296758		2203	4300	6503	SO:0001583	missense	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18296758G>T	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"Zinc fingers, C2H2-type", "-"	12917	protein-coding gene	gene with protein product		604075	"zinc finger protein 150 (pHZ-66)", "zinc finger protein 133 (clone pHZ-13)"	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1263G>T	20.37:g.18296758G>T	ENSP00000346090:p.Gln421His		Somatic				ZNF133_ENST00000401790.1_Missense_Mutation_p.Q421H|ZNF133_ENST00000535822.1_Missense_Mutation_p.Q326H|ZNF133_ENST00000538547.1_Missense_Mutation_p.Q326H|ZNF133_ENST00000316358.4_Missense_Mutation_p.Q421H|ZNF133_ENST00000402618.2_Missense_Mutation_p.Q358H|ZNF133_ENST00000396026.3_Missense_Mutation_p.Q424H|ZNF133_ENST00000462170.1_3'UTR	p.Q420H	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	WXS	Illumina GAIIx	Phase_I	P52736	ZN133_HUMAN			7	1819	+			421					A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37	c.1260G>T		.	.	.	.	.	.	.	.	.	.	G	10.53	1.376323	0.24857	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.07327	5.25;5.25;3.2;5.25;3.2;3.2;5.25	4.59	4.59	0.56863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000259	T	0.08492	0.0211	N	0.25426	0.745	0.29546	N	0.851747	P;P;P;P	0.48764	0.622;0.915;0.618;0.747	B;P;B;B	0.45971	0.181;0.499;0.248;0.238	T	0.14896	-1.0456	10	0.14656	T	0.56	-29.9116	15.7018	0.77547	0.0:0.0:1.0:0.0	.	358;424;421;420	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	H	420;424;358;421;326;326;421	ENSP00000366899:Q420H;ENSP00000400897:Q424H;ENSP00000385279:Q358H;ENSP00000383945:Q421H;ENSP00000442978:Q326H;ENSP00000439427:Q326H;ENSP00000346090:Q421H	ENSP00000346090:Q421H	Q	+	3	2	ZNF133	18244758	0.024000	0.19004	1.000000	0.80357	0.991000	0.79684	0.370000	0.20433	2.837000	0.97791	0.655000	0.94253	CAG		0.562	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		42	81	1	0	6.45866e-13	1	8.20724e-13	42	81					T	18296758	G	T	18296758	3	4	48	1	0	0	0	0	1	0	0	0	17738	933	33	2	1270	2	ZNF133	20	18296758	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	655766	18296758	44728762	4180	8648										
C20orf26	26074	broad.mit.edu	37	chr20	20177339	20177339	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attttccggcactacaccaaGttctttctgaaggagatcct	7	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:20177339G>A	ENST00000245957.5	+	16	1792	c.1716G>A	c.(1714-1716)aaG>aaA	p.K572K	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		572										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)		ACTACACCAAGTTCTTTCTGA	0.458																																						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.(1714-1716)aaG>aaA		chromosome 20 open reading frame 26							138	124	129					20																	20177339		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20177339G>A																												ENST00000245957.5:c.1716G>A	20.37:g.20177339G>A			Somatic				C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	p.K572K	NM_015585.3	NP_056400.3	WXS	Illumina GAIIx	Phase_I	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	16	1792	+			572					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.1716G>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358189	0.24598	.	.	ENSG00000089101	ENST00000431753	.	.	.	5.83	3.45	0.39498	.	.	.	.	.	T	0.55609	0.1931	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51872	-0.8650	4	.	.	.	.	6.7893	0.23692	0.3413:0.0:0.6587:0.0	.	.	.	.	N	112	.	.	S	+	2	0	C20orf26	20125339	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.464000	0.53057	1.293000	0.44690	0.655000	0.94253	AGT		0.458	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			26	44	0	0	0	1	0	26	44					A	20177339	G	A	20177339	2	1	48	1	0	0	0	0	0	0	0	1	2108	1020	36	3		3	C20orf26	20	20177339	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1880581	20177339	42848181	4181	8649										
PLK1S1	101929591	broad.mit.edu	37	chr20	21142620	21142620	+	RNA	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagccatcttaagcatgagaGatttcagtacagagcacaaa	8	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:21142620G>T	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							AAGCATGAGAGATTTCAGTAC	0.473																																						ENST00000591761.1																			0																				77	74	75					20																	21142620		1925	4122	6047			0							g.chr20:21142620G>T																													20.37:g.21142620G>T			Somatic				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA				WXS	Illumina GAIIx	Phase_I					0	5142	-									RNA	SNP	ENST00000591761.1	37																																																																																						0.473	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			26	35	1	0	1.66031e-10	1	2.0393e-10	26	35					T	21142620	G	T	21142620	1	4	48	0	1	0	0	0	0	0	0	0	12104	942	33	2		2	PLK1S1	20	21142620	RNA	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	965281	21142620	41882900	4182	8650										
PLK1S1	101929591	broad.mit.edu	37	chr20	21142658	21142658	+	RNA	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaatctccccagcccacaaaGaacttttcaattcctgaccc	3	16	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:21142658G>T	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							AGCCCACAAAGAACTTTTCAA	0.453																																						ENST00000591761.1																			0																				73	71	72					20																	21142658		1937	4144	6081			0							g.chr20:21142658G>T																													20.37:g.21142658G>T			Somatic				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA				WXS	Illumina GAIIx	Phase_I					0	5142	-									RNA	SNP	ENST00000591761.1	37																																																																																						0.453	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			17	28	1	0	1.15088e-07	1	1.32965e-07	17	28					T	21142658	G	T	21142658	1	4	48	0	1	0	0	0	0	0	0	0	12104	933	33	2		2	PLK1S1	20	21142658	RNA	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	38	21142658	41882862	4183	8651										
CST8	10047	broad.mit.edu	37	chr20	23472478	23472478	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccatgcaagaatacaacaaAgagagcgaggacaagtatgt	11	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:23472478A>C	ENST00000246012.1	+	2	531	c.174A>C	c.(172-174)aaA>aaC	p.K58N		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	58					negative regulation of endopeptidase activity (GO:0010951)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AATACAACAAAGAGAGCGAGG	0.463																																						ENST00000246012.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16						c.(172-174)aaA>aaC		cystatin 8 (cystatin-related epididymal specific)							191	166	174					20																	23472478		2203	4300	6503	SO:0001583	missense	10047					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23472478A>C	AF059244	CCDS13156.1	20p11.21	2012-08-14			ENSG00000125815	ENSG00000125815			2480	protein-coding gene	gene with protein product		608683				7619504, 20565543	Standard	NM_005492		Approved	CRES, CTES5	uc002wth.1	O60676	OTTHUMG00000032071	ENST00000246012.1:c.174A>C	20.37:g.23472478A>C	ENSP00000246012:p.Lys58Asn		Somatic					p.K58N	NM_005492.2	NP_005483.1	WXS	Illumina GAIIx	Phase_I	O60676	CST8_HUMAN			2	531	+	Colorectal(13;0.0431)|Lung NSC(19;0.235)		58					Q2M2X6	Missense_Mutation	SNP	ENST00000246012.1	37	c.174A>C	CCDS13156.1	.	.	.	.	.	.	.	.	.	.	A	8.961	0.970561	0.18659	.	.	ENSG00000125815	ENST00000449810;ENST00000246012	T;T	0.15718	2.5;2.4	4.15	-3.86	0.04230	Proteinase inhibitor I25, cystatin (2);	0.482604	0.24393	N	0.038920	T	0.17023	0.0409	L	0.53729	1.69	0.09310	N	1	B	0.33299	0.407	B	0.41332	0.354	T	0.23476	-1.0187	10	0.25106	T	0.35	-4.9825	11.2509	0.49026	0.4013:0.0:0.5987:0.0	.	58	O60676	CST8_HUMAN	N	58	ENSP00000399144:K58N;ENSP00000246012:K58N	ENSP00000246012:K58N	K	+	3	2	CST8	23420478	0.035000	0.19736	0.000000	0.03702	0.001000	0.01503	-0.188000	0.09642	-0.835000	0.04234	-0.912000	0.02778	AAA		0.463	CST8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078336.1			49	95	0	0	0	1	0	49	95					C	23472478	A	C	23472478	3	2	48	1	0	0	0	0	1	0	0	0	3980	69	3	4	176	4	CST8	20	23472478	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2329820	23472478	39553042	4184	8652										
GGTLC1	92086	broad.mit.edu	37	chr20	23967198	23967198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taggagatcgggtgagtggtGtcgtcagagatctgggcccg	18	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:23967198G>A	ENST00000335694.4	-	2	255	c.51C>T	c.(49-51)gaC>gaT	p.D17D	GGTLC1_ENST00000278765.4_Silent_p.D17D|GGTLC1_ENST00000286890.4_Silent_p.D17D	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	17					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GGTGAGTGGTGTCGTCAGAGA	0.632																																						ENST00000335694.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(49-51)gaC>gaT		gamma-glutamyltransferase light chain 1							68	67	67					20																	23967198		2203	4298	6501	SO:0001819	synonymous_variant	92086						gamma-glutamyltransferase activity	g.chr20:23967198G>A	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"Gamma-glutamyltransferases"	16437	protein-coding gene	gene with protein product		612338	"gamma-glutamyltransferase-like activity 4", "gamma-glutamyltransferase-like activity 3"	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.51C>T	20.37:g.23967198G>A			Somatic				GGTLC1_ENST00000278765.4_Silent_p.D17D|GGTLC1_ENST00000286890.4_Silent_p.D17D	p.D17D	NM_178311.2	NP_842563.1	WXS	Illumina GAIIx	Phase_I	Q9BX51	GGTL1_HUMAN			2	255	-			17					D3DW43|Q08246	Silent	SNP	ENST00000335694.4	37	c.51C>T	CCDS13163.1																																																																																				0.632	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		24	67	0	0	0	1	0	24	67					A	23967198	G	A	23967198	2	1	48	1	0	0	0	0	0	0	0	1	6373	1368	48	3		3	GGTLC1	20	23967198	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	494720	23967198	39058322	4185	8653										
GINS1	9837	broad.mit.edu	37	chr20	25405867	25405868	+	Frame_Shift_Ins	INS	-	-	A													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggagtggtttaataattatINSaaaagatctcttgctactta							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:25405867_25405868insA	ENST00000262460.4	+	5	445_446	c.351_352insA	c.(352-354)aaafs	p.K118fs	GINS1_ENST00000429262.2_Frame_Shift_Ins_p.IK158fs	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	118					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						TTAATAATTATAAAAGATCTCT	0.347																																						ENST00000262460.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						c.(349-354)taaaagfs		GINS complex subunit 1 (Psf1 homolog)																																				SO:0001589	frameshift_variant	9837				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		g.chr20:25405867_25405868insA	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.355dupA	20.37:g.25405871_25405871dupA	ENSP00000262460:p.Lys118fs		Somatic				GINS1_ENST00000429262.2_Frame_Shift_Ins_p.K158fs	p.*K117fs	NM_021067.3	NP_066545.3	WXS	Illumina GAIIx	Phase_I	Q14691	PSF1_HUMAN			5	445_446	+			117					Q9NQE2|Q9NQI7	Frame_Shift_Ins	INS	ENST00000262460.4	37	c.351_352insA	CCDS33451.1																																																																																				0.347	GINS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078433.1	NM_021067		17	26						17	26	---	---	---	---	A	25405868	-	A	25405867	7	5	48	1	0	1	1	0	0	0	0	0	6395	1413	49	0	369	0	GINS1	20	25405867	Frame_Shift_Ins	INS	-	TCGA-ND-A4WC-01A-21D-A28R-08	1438669	25405867	37619653	4186	8654										
ZNF337	26152	broad.mit.edu	37	chr20	25656309	25656309	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catgaagggcttctctcctgAgtgtgtcctctgatgtatgg	12	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:25656309A>G	ENST00000376436.1	-	4	2154	c.1615T>C	c.(1615-1617)Tca>Cca	p.S539P	RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.S539P|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000538750.1_Missense_Mutation_p.S507P			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	539					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						TTCTCTCCTGAGTGTGTCCTC	0.483																																						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.(1615-1617)Tca>Cca		zinc finger protein 337							99	87	91					20																	25656309		2203	4300	6503	SO:0001583	missense	26152							g.chr20:25656309A>G		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1615T>C	20.37:g.25656309A>G	ENSP00000365619:p.Ser539Pro		Somatic				ZNF337_ENST00000252979.5_Missense_Mutation_p.S539P|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.S507P	p.S539P			WXS	Illumina GAIIx	Phase_I					4	2154	-								B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.1615T>C	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	19.46	3.831589	0.71258	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.19250	2.16;2.16;2.16	1.29	-2.37	0.06643	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20170	0.0485	M	0.75615	2.305	0.24896	N	0.992131	P;P	0.47350	0.894;0.894	B;B	0.39119	0.291;0.291	T	0.12502	-1.0545	9	0.87932	D	0	.	5.6905	0.17827	0.3071:0.0:0.0:0.6929	.	507;539	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	P	539;539;539;507	ENSP00000365619:S539P;ENSP00000252979:S539P;ENSP00000442181:S507P	ENSP00000252979:S539P	S	-	1	0	ZNF337	25604309	0.848000	0.29623	0.644000	0.29465	0.955000	0.61496	0.403000	0.20982	-0.629000	0.05575	0.248000	0.18094	TCA		0.483	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			27	58	0	0	0	1	0	27	58					G	25656309	A	G	25656309	3	3	48	1	0	0	0	0	1	0	0	0	17868	304	11	4	644	4	ZNF337	20	25656309	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	250442	25656309	37369211	4187	8655										
ZNF337	26152	broad.mit.edu	37	chr20	25656432	25656432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttataggaggacttatcccGaaaccttcgcccacactccc	7	15	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:25656432G>A	ENST00000376436.1	-	4	2031	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.R498W|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000538750.1_Missense_Mutation_p.R466W			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	498					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.R498W(1)		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						GACTTATCCCGAAACCTTCGC	0.498																																						ENST00000376436.1																			1	Substitution - Missense(1)	p.R498W(1)	large_intestine(1)	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.(1492-1494)Cgg>Tgg		zinc finger protein 337							108	107	107					20																	25656432		2203	4300	6503	SO:0001583	missense	26152							g.chr20:25656432G>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.1492C>T	20.37:g.25656432G>A	ENSP00000365619:p.Arg498Trp		Somatic				ZNF337_ENST00000252979.5_Missense_Mutation_p.R498W|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.R466W	p.R498W			WXS	Illumina GAIIx	Phase_I					4	2031	-								B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.1492C>T	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.757325	0.49468	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.54071	0.59;0.59;0.59	1.29	-2.57	0.06248	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54062	0.1835	M	0.81802	2.56	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.50659	0.647;0.647	T	0.49293	-0.8955	9	0.72032	D	0.01	.	0.6769	0.00868	0.1934:0.344:0.2147:0.248	.	466;498	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	W	498;498;498;466	ENSP00000365619:R498W;ENSP00000252979:R498W;ENSP00000442181:R466W	ENSP00000252979:R498W	R	-	1	2	ZNF337	25604432	0.008000	0.16893	0.000000	0.03702	0.914000	0.54420	-0.121000	0.10643	-1.076000	0.03125	0.298000	0.19748	CGG		0.498	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			46	77	0	0	0	1	0	46	77					A	25656432	G	A	25656432	3	1	48	1	0	0	0	0	1	0	0	0	17868	1057	37	1	767	1	ZNF337	20	25656432	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	123	25656432	37369088	4188	8656										
DEFB118	117285	broad.mit.edu	37	chr20	29960797	29960797	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgaagaccacaggcgagttCctgcgacatctcccacaccc	8	16	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:29960797C>A	ENST00000253381.2	+	2	229	c.196C>A	c.(196-198)Cct>Act	p.P66T		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	66					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)			CAGGCGAGTTCCTGCGACATC	0.438																																						ENST00000253381.2																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14						c.(196-198)Cct>Act		defensin, beta 118							155	138	144					20																	29960797		2203	4300	6503	SO:0001583	missense	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960797C>A	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.196C>A	20.37:g.29960797C>A	ENSP00000253381:p.Pro66Thr		Somatic					p.P66T	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	229	+	all_hematologic(12;0.158)		66					Q17RC4|Q8N691|Q9NUH0	Missense_Mutation	SNP	ENST00000253381.2	37	c.196C>A	CCDS13177.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259971	0.23051	.	.	ENSG00000131068	ENST00000253381	T	0.06933	3.24	3.05	-0.314	0.12750	.	6.986190	0.00481	N	0.000127	T	0.05686	0.0149	N	0.24115	0.695	0.09310	N	1	B	0.34290	0.447	B	0.24394	0.053	T	0.29610	-1.0006	10	0.72032	D	0.01	-10.2018	3.6552	0.08218	0.4392:0.4276:0.0:0.1332	.	66	Q96PH6	DB118_HUMAN	T	66	ENSP00000253381:P66T	ENSP00000253381:P66T	P	+	1	0	DEFB118	29424458	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.885000	0.04161	-0.035000	0.13691	0.655000	0.94253	CCT		0.438	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		38	79	1	0	3.33393e-15	1	4.38315e-15	38	79					A	29960797	C	A	29960797	3	1	48	1	0	0	0	0	1	0	0	0	4408	855	30	2	202	2	DEFB118	20	29960797	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4304365	29960797	33064723	4189	8657										
HCK	3055	broad.mit.edu	37	chr20	30689247	30689247	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaccgtccggaggagcggccGaccttcgaatacatccagag	12	13	0	1	rs369898770		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:30689247G>A	ENST00000520553.1	+	13	1689	c.1443G>A	c.(1441-1443)ccG>ccA	p.P481P	HCK_ENST00000375862.2_Silent_p.P501P|HCK_ENST00000375852.2_Silent_p.P502P|HCK_ENST00000534862.1_Silent_p.P482P|HCK_ENST00000538448.1_Silent_p.P481P|HCK_ENST00000518730.1_Silent_p.P480P	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	502	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)	AGGAGCGGCCGACCTTCGAAT	0.592																																						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.(1444-1446)ccG>ccA		hemopoietic cell kinase		G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	54	45	48		1443,1503,1440,1446,1443,1506	2.9	1	20		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HCK	NM_001172129.1,NM_001172130.1,NM_001172131.1,NM_001172132.1,NM_001172133.1,NM_002110.3	,,,,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,,,,	481/506,501/526,480/505,482/507,481/506,502/527	30689247	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	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.chr20:30689247G>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.1443G>A	20.37:g.30689247G>A			Somatic				HCK_ENST00000375852.2_Silent_p.P502P|HCK_ENST00000518730.1_Silent_p.P480P|HCK_ENST00000375862.2_Silent_p.P501P|HCK_ENST00000520553.1_Silent_p.P481P|HCK_ENST00000538448.1_Silent_p.P481P	p.P482P	NM_001172132.1	NP_001165603.1	WXS	Illumina GAIIx	Phase_I	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		14	1809	+			502			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.1446G>A	CCDS54455.1																																																																																				0.592	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			6	18	0	0	0	1	0	6	18					A	30689247	G	A	30689247	2	1	48	1	0	0	0	0	0	0	0	1	7003	1045	37	1		1	HCK	20	30689247	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	728450	30689247	32336273	4190	8658										
POFUT1	23509	broad.mit.edu	37	chr20	30797902	30797902	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggaaccaggccgatcacttCttgggctctctggcatttgc	12	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:30797902C>A	ENST00000375749.3	+	2	215	c.153C>A	c.(151-153)ttC>ttA	p.F51L	POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000486717.1_Intron|PLAGL2_ENST00000246229.4_5'Flank|POFUT1_ENST00000375730.3_Missense_Mutation_p.F51L	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	51					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCGATCACTTCTTGGGCTCTC	0.552																																						ENST00000375749.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6						c.(151-153)ttC>ttA		protein O-fucosyltransferase 1							197	166	176					20																	30797902		2203	4300	6503	SO:0001583	missense	23509				fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity	g.chr20:30797902C>A	AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"Fucosyltransferases"	14988	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 1"	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.153C>A	20.37:g.30797902C>A	ENSP00000364902:p.Phe51Leu		Somatic				POFUT1_ENST00000375730.3_Missense_Mutation_p.F51L|POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000486717.1_Intron	p.F51L	NM_015352.1	NP_056167.1	WXS	Illumina GAIIx	Phase_I	Q9H488	OFUT1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	215	+			51					A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Missense_Mutation	SNP	ENST00000375749.3	37	c.153C>A	CCDS13198.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697752	0.48307	.	.	ENSG00000101346	ENST00000375749;ENST00000375730	T;T	0.36878	1.23;1.23	5.0	3.05	0.35203	.	0.000000	0.85682	D	0.000000	T	0.56790	0.2009	M	0.79343	2.45	0.80722	D	1	P;D	0.76494	0.922;0.999	P;D	0.83275	0.794;0.996	T	0.55490	-0.8133	10	0.52906	T	0.07	-23.3904	9.4348	0.38632	0.0:0.764:0.0:0.236	.	51;51	Q9H488;Q9H488-2	OFUT1_HUMAN;.	L	51	ENSP00000364902:F51L;ENSP00000364882:F51L	ENSP00000364882:F51L	F	+	3	2	POFUT1	30261563	1.000000	0.71417	0.999000	0.59377	0.136000	0.21042	1.563000	0.36364	0.516000	0.28340	-0.291000	0.09656	TTC		0.552	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078613.1	NM_015352		7	129	1	0	8.12818e-05	1	8.79784e-05	7	129					A	30797902	C	A	30797902	3	1	48	1	0	0	0	0	1	0	0	0	12192	912	32	2	159	2	POFUT1	20	30797902	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	108655	30797902	32227618	4191	8659										
KIF3B	9371	broad.mit.edu	37	chr20	30898040	30898040	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctaccaggaggagatccgaGatttgctctcaaaggatcag	11	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:30898040G>T	ENST00000375712.3	+	2	627	c.460G>T	c.(460-462)Gat>Tat	p.D154Y	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	154	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)			GGAGATCCGAGATTTGCTCTC	0.458																																						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.(460-462)Gat>Tat		kinesin family member 3B							64	61	62					20																	30898040		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898040G>T	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.460G>T	20.37:g.30898040G>T	ENSP00000364864:p.Asp154Tyr		Somatic					p.D154Y	NM_004798.3	NP_004789.1	WXS	Illumina GAIIx	Phase_I	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	627	+			154			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.460G>T	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088950	0.76756	.	.	ENSG00000101350	ENST00000375712	D	0.89270	-2.49	5.31	5.31	0.75309	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.97760	0.9265	H	0.99955	5.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99331	1.0909	10	0.87932	D	0	.	19.1734	0.93590	0.0:0.0:1.0:0.0	.	154;154	B4DYF2;O15066	.;KIF3B_HUMAN	Y	154	ENSP00000364864:D154Y	ENSP00000364864:D154Y	D	+	1	0	KIF3B	30361701	1.000000	0.71417	0.981000	0.43875	0.996000	0.88848	9.657000	0.98554	2.767000	0.95098	0.561000	0.74099	GAT		0.458	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		10	44	1	0	2.17888e-05	1	2.39107e-05	10	44					T	30898040	G	T	30898040	3	4	48	1	0	0	0	0	1	0	0	0	8310	942	33	2	462	2	KIF3B	20	30898040	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	100138	30898040	32127480	4192	8660										
ASXL1	171023	broad.mit.edu	37	chr20	31021321	31021321	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggggttgctaaggatgcaaaAtctgtggcctcagatgttcc	13	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:31021321A>C	ENST00000375687.4	+	12	1744	c.1320A>C	c.(1318-1320)aaA>aaC	p.K440N	ASXL1_ENST00000306058.5_Missense_Mutation_p.K435N	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	440	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)			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						AGGATGCAAAATCTGTGGCCT	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"		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.(1318-1320)aaA>aaC		additional sex combs like 1 (Drosophila)							99	97	97					20																	31021321		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.chr20:31021321A>C	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.1320A>C	20.37:g.31021321A>C	ENSP00000364839:p.Lys440Asn		Somatic				ASXL1_ENST00000306058.5_Missense_Mutation_p.K435N	p.K440N	NM_015338.5	NP_056153.2	WXS	Illumina GAIIx	Phase_I	Q8IXJ9	ASXL1_HUMAN			12	1744	+			440					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.1320A>C	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	A	9.002	0.980248	0.18812	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.14766	2.48;2.48	4.28	-0.584	0.11702	.	0.774065	0.11634	N	0.544500	T	0.05410	0.0143	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.43343	-0.9397	10	0.19590	T	0.45	-0.8585	5.1061	0.14785	0.1544:0.1326:0.5644:0.1486	.	435;440	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	N	440;440;440;379;435	ENSP00000364839:K440N;ENSP00000305119:K435N	ENSP00000305119:K435N	K	+	3	2	ASXL1	30484982	0.000000	0.05858	0.371000	0.25978	0.968000	0.65278	-0.628000	0.05515	-0.167000	0.10871	0.533000	0.62120	AAA		0.527	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		5	110	0	0	0	1	0	5	110					C	31021321	A	C	31021321	3	2	48	1	0	0	0	0	1	0	0	0	1066	98	4	4	1372	4	ASXL1	20	31021321	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	123281	31021321	32004199	4193	8661										
MAPRE1	22919	broad.mit.edu	37	chr20	31424467	31424467	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtggacaaattagtaaaaGgaaagtttcaggacaatttt	9	4	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:31424467G>T	ENST00000375571.5	+	4	434	c.295G>T	c.(295-297)Gga>Tga	p.G99*		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)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						ATTAGTAAAAGGAAAGTTTCA	0.393																																						ENST00000375571.5																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(295-297)Gga>Tga		microtubule-associated protein, RP/EB family, member 1							52	54	53					20																	31424467		2203	4299	6502	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.chr20:31424467G>T	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.295G>T	20.37:g.31424467G>T	ENSP00000364721:p.Gly99*		Somatic					p.G99*	NM_012325.2	NP_036457.1	WXS	Illumina GAIIx	Phase_I	Q15691	MARE1_HUMAN			4	434	+			99			CH.		B2R6I7|E1P5M8|Q3KQS8	Nonsense_Mutation	SNP	ENST00000375571.5	37	c.295G>T	CCDS13208.1	.	.	.	.	.	.	.	.	.	.	G	37	6.006369	0.97195	.	.	ENSG00000101367	ENST00000375571	.	.	.	4.45	4.45	0.53987	.	0.051195	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.0838	16.6237	0.84936	0.0:0.0:1.0:0.0	.	.	.	.	X	99	.	ENSP00000364721:G99X	G	+	1	0	MAPRE1	30888128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.422000	0.97458	2.465000	0.83290	0.655000	0.94253	GGA		0.393	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		11	30	1	0	2.27111e-07	1	2.60515e-07	11	30					T	31424467	G	T	31424467	4	4	48	1	0	0	0	0	0	1	0	0	9303	1001	35	5	305	5	MAPRE1	20	31424467	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	403146	31424467	31601053	4194	8662										
C20orf71	128861	broad.mit.edu	37	chr20	31814249	31814249	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaatcagtttctctacaacCtcaaagagaatctgcaaaaa	5	9	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:31814249C>A	ENST00000375454.3	+	5	784	c.574C>A	c.(574-576)Ctc>Atc	p.L192I	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Missense_Mutation_p.L156I	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	192						extracellular region (GO:0005576)	lipid binding (GO:0008289)										TCTCTACAACCTCAAAGAGAA	0.428																																						ENST00000375454.3																			0											c.(574-576)Ctc>Atc		BPI fold containing family A, member 3							100	92	95					20																	31814249		2203	4300	6503	SO:0001583	missense	128861					extracellular region	lipid binding	g.chr20:31814249C>A		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"BPI fold containing"	16204	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 71"	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.574C>A	20.37:g.31814249C>A	ENSP00000364603:p.Leu192Ile		Somatic				BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Missense_Mutation_p.L156I	p.L192I	NM_178466.3	NP_848561.2	WXS	Illumina GAIIx	Phase_I	Q9BQP9	SPLC3_HUMAN			5	784	+			192					Q5JWG8|Q6NZ38	Missense_Mutation	SNP	ENST00000375454.3	37	c.574C>A	CCDS13216.2	.	.	.	.	.	.	.	.	.	.	C	11.46	1.646859	0.29246	.	.	ENSG00000131059	ENST00000375454;ENST00000375452	T;T	0.05649	3.41;3.41	3.62	-5.61	0.02489	.	0.834104	0.10062	N	0.720760	T	0.05502	0.0145	N	0.19112	0.55	0.09310	N	1	P;P	0.41420	0.705;0.749	B;P	0.45753	0.359;0.492	T	0.18808	-1.0325	10	0.33141	T	0.24	-0.2491	11.545	0.50688	0.0:0.2533:0.0:0.7467	.	156;192	Q9BQP9-2;Q9BQP9	.;BPIA3_HUMAN	I	192;156	ENSP00000364603:L192I;ENSP00000364601:L156I	ENSP00000364601:L156I	L	+	1	0	BPIFA3	31277910	0.268000	0.24133	0.000000	0.03702	0.004000	0.04260	-0.003000	0.12901	-1.272000	0.02427	-0.672000	0.03802	CTC		0.428	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466		9	23	1	0	0.000274275	1	0.000292037	9	23					A	31814249	C	A	31814249	3	1	48	1	0	0	0	0	1	0	0	0	2119	681	24	5	592	5	C20orf71	20	31814249	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	389782	31814249	31211271	4195	8663										
PLUNC	51297	broad.mit.edu	37	chr20	31830330	31830330	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctacagtttgtcatcaaggtCtaagccttccaggaaggggc	11	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:31830330C>A	ENST00000354297.4	+	8	839	c.768C>A	c.(766-768)gtC>gtA	p.V256V	BPIFA1_ENST00000375413.4_Silent_p.V256V|BPIFA1_ENST00000375422.2_Silent_p.V256V	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	256					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)										TCATCAAGGTCTAAGCCTTCC	0.507																																						ENST00000354297.4																			0											c.(766-768)gtC>gtA		BPI fold containing family A, member 1							116	104	108					20																	31830330		2203	4300	6503	SO:0001819	synonymous_variant	51297				innate immune response	extracellular region	lipid binding	g.chr20:31830330C>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.768C>A	20.37:g.31830330C>A			Somatic				BPIFA1_ENST00000375413.4_Silent_p.V256V|BPIFA1_ENST00000375422.2_Silent_p.V256V	p.V256V	NM_130852.2	NP_570913.1	WXS	Illumina GAIIx	Phase_I	Q9NP55	PLUNC_HUMAN			8	839	+			256					A8K9R3|E1P5M9|Q9NZT0	Silent	SNP	ENST00000354297.4	37	c.768C>A	CCDS13217.1																																																																																				0.507	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		13	31	1	0	4.3838e-07	1	4.998e-07	13	31					A	31830330	C	A	31830330	2	1	48	1	0	0	0	0	0	0	0	1	12124	900	32	2		2	PLUNC	20	31830330	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	16081	31830330	31195190	4196	8664										
C20orf114	92747	broad.mit.edu	37	chr20	31873907	31873907	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcccgtggaccttcacccttCtctgtggtttgctggcagcc	11	15	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:31873907C>A	ENST00000253354.1	+	2	189	c.28C>A	c.(28-30)Ctc>Atc	p.L10I		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	10					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)										CTTCACCCTTCTCTGTGGTTT	0.577																																						ENST00000253354.1																			0											c.(28-30)Ctc>Atc		BPI fold containing family B, member 1							127	108	115					20																	31873907		2203	4300	6503	SO:0001583	missense	92747					extracellular space	lipid binding	g.chr20:31873907C>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.28C>A	20.37:g.31873907C>A	ENSP00000253354:p.Leu10Ile		Somatic					p.L10I	NM_033197.2	NP_149974.2	WXS	Illumina GAIIx	Phase_I	Q8TDL5	LPLC1_HUMAN			2	189	+			10					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.28C>A	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	C	8.984	0.975989	0.18736	.	.	ENSG00000125999	ENST00000423645;ENST00000253354	T;T	0.36878	1.23;3.6	4.92	2.96	0.34315	.	0.233177	0.30510	N	0.009471	T	0.33760	0.0874	M	0.71581	2.175	0.23036	N	0.998399	B;B	0.33318	0.408;0.408	B;B	0.30316	0.114;0.114	T	0.33979	-0.9847	10	0.87932	D	0	-20.5147	8.0306	0.30463	0.1807:0.6452:0.1741:0.0	.	10;10	B2R7Z6;Q8TDL5	.;BPIB1_HUMAN	I	10	ENSP00000390471:L10I;ENSP00000253354:L10I	ENSP00000253354:L10I	L	+	1	0	BPIFB1	31337568	0.916000	0.31088	0.842000	0.33263	0.022000	0.10575	0.683000	0.25349	0.774000	0.33427	0.655000	0.94253	CTC		0.577	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		29	54	1	0	6.38683e-12	1	8.00204e-12	29	54					A	31873907	C	A	31873907	3	1	48	1	0	0	0	0	1	0	0	0	2084	913	32	2	30	2	C20orf114	20	31873907	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	43577	31873907	31151613	4197	8665										
ITCH	83737	broad.mit.edu	37	chr20	33080315	33080315	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acttttaacagtttgttaaaGaaattgataatgagaagaga	8	2	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:33080315G>T	ENST00000262650.6	+	24	2588	c.2452G>T	c.(2452-2454)Gaa>Taa	p.E818*	ITCH_ENST00000374864.4_Nonsense_Mutation_p.E777*|ITCH_ENST00000535650.1_Nonsense_Mutation_p.E667*			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	818	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						GTTTGTTAAAGAAATTGATAA	0.318																																						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.(2329-2331)Gaa>Taa		itchy E3 ubiquitin protein ligase							80	81	80					20																	33080315		2203	4300	6503	SO:0001587	stop_gained	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33080315G>T	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.2452G>T	20.37:g.33080315G>T	ENSP00000262650:p.Glu818*		Somatic				ITCH_ENST00000535650.1_Nonsense_Mutation_p.E667*|ITCH_ENST00000262650.6_Nonsense_Mutation_p.E818*	p.E777*	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			23	2542	+			818			HECT.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Nonsense_Mutation	SNP	ENST00000262650.6	37	c.2329G>T	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	G	40	8.331098	0.98764	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.5497	0.91058	0.0:0.0:1.0:0.0	.	.	.	.	X	777;667;818	.	ENSP00000262650:E818X	E	+	1	0	ITCH	32543976	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.112000	0.94314	2.778000	0.95560	0.650000	0.86243	GAA		0.318	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			16	37	1	0	1.99824e-07	1	2.29918e-07	16	37					T	33080315	G	T	33080315	4	4	48	1	0	0	0	0	0	1	0	0	7877	943	33	2	2411	2	ITCH	20	33080315	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1206408	33080315	29945205	4198	8666										
ITCH	83737	broad.mit.edu	37	chr20	33092154	33092154	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agggagcaatggaccacagaAattctgcattgaaaaagttg	11	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:33092154A>C	ENST00000262650.6	+	25	2694	c.2558A>C	c.(2557-2559)aAa>aCa	p.K853T	ITCH_ENST00000374864.4_Missense_Mutation_p.K812T|ITCH_ENST00000535650.1_Missense_Mutation_p.K702T			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	853	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						GGACCACAGAAATTCTGCATT	0.378																																						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.(2434-2436)aAa>aCa		itchy E3 ubiquitin protein ligase							112	109	110					20																	33092154		2203	4300	6503	SO:0001583	missense	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.chr20:33092154A>C	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.2558A>C	20.37:g.33092154A>C	ENSP00000262650:p.Lys853Thr		Somatic				ITCH_ENST00000535650.1_Missense_Mutation_p.K702T|ITCH_ENST00000262650.6_Missense_Mutation_p.K853T	p.K812T	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			24	2648	+			853			HECT.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.2435A>C	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714375	0.89112	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.60548	0.18;0.18;0.18	5.55	5.55	0.83447	HECT (4);	0.000000	0.85682	D	0.000000	T	0.77110	0.4082	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	0.993;1.0;0.998	D;D;D	0.77557	0.99;0.99;0.99	T	0.80367	-0.1412	10	0.72032	D	0.01	.	15.5114	0.75786	1.0:0.0:0.0:0.0	.	764;853;812	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	T	812;702;853	ENSP00000363998:K812T;ENSP00000445608:K702T;ENSP00000262650:K853T	ENSP00000262650:K853T	K	+	2	0	ITCH	32555815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.330000	0.79161	0.477000	0.44152	AAA		0.378	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			10	25	0	0	0	1	0	10	25					C	33092154	A	C	33092154	3	2	48	1	0	0	0	0	1	0	0	0	7877	14	1	4	2521	4	ITCH	20	33092154	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	11839	33092154	29933366	4199	8667										
DYNLRB1	83658	broad.mit.edu	37	chr20	33122566	33122566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atctcaccttccttcgaattCgctccaagaaaaatgaaatt	4	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:33122566C>T	ENST00000357156.2	+	3	264	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000417166.2_Missense_Mutation_p.R72C|DYNLRB1_ENST00000374846.3_Missense_Mutation_p.R124C	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	72					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.R72C(1)		endometrium(1)|large_intestine(1)|lung(1)	3						CCTTCGAATTCGCTCCAAGAA	0.527																																						ENST00000417166.2																			1	Substitution - Missense(1)	p.R72C(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(1)	3						c.(214-216)Cgc>Tgc		dynein, light chain, roadblock-type 1							103	84	91					20																	33122566		2203	4300	6503	SO:0001583	missense	83658				microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity	g.chr20:33122566C>T	AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"Cytoplasmic dyneins"	15468	protein-coding gene	gene with protein product	"roadblock domain containing 1"	607167	"dynein, cytoplasmic, light polypeptide 2A"	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.214C>T	20.37:g.33122566C>T	ENSP00000349679:p.Arg72Cys		Somatic				DYNLRB1_ENST00000357156.2_Missense_Mutation_p.R72C|DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000374846.3_Missense_Mutation_p.R124C	p.R72C			WXS	Illumina GAIIx	Phase_I	Q9NP97	DLRB1_HUMAN			3	247	+			72					B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Missense_Mutation	SNP	ENST00000357156.2	37	c.214C>T	CCDS13235.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648437	0.87958	.	.	ENSG00000125971	ENST00000357156;ENST00000417166;ENST00000374846	T;T;T	0.34859	1.34;1.34;1.34	5.06	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	.	.	.	0.80722	D	1	D;D	0.69078	0.997;0.982	D;P	0.63113	0.911;0.803	T	0.61778	-0.6993	9	0.87932	D	0	-9.0125	12.5373	0.56147	0.3026:0.6974:0.0:0.0	.	72;72	B4DFR2;Q9NP97	.;DLRB1_HUMAN	C	72;72;124	ENSP00000349679:R72C;ENSP00000409090:R72C;ENSP00000363979:R124C	ENSP00000349679:R72C	R	+	1	0	DYNLRB1	32586227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.760000	0.68793	1.351000	0.45789	0.655000	0.94253	CGC		0.527	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078791.1	NM_014183		31	48	0	0	0	1	0	31	48					T	33122566	C	T	33122566	3	4	48	1	0	0	0	0	1	0	0	0	4852	884	31	1	224	1	DYNLRB1	20	33122566	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	30412	33122566	29902954	4200	8668										
EIF6	10893	broad.mit.edu	37	chr20	33867534	33867534	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagcaatcacctcactgcctCggttcacagtccccgcctgc	7	19	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:33867534C>T	ENST00000246186.6	+	0	4412				RP4-614O4.11_ENST00000444717.1_RNA|EIF6_ENST00000374436.3_Missense_Mutation_p.R188Q|EIF6_ENST00000374443.3_Missense_Mutation_p.R169Q|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|EDEM2_ENST00000540582.1_5'Flank|MMP24-AS1_ENST00000438751.1_RNA|EIF6_ENST00000462894.1_5'Flank|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000435366.1_RNA|EIF6_ENST00000374450.3_Missense_Mutation_p.R188Q|MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000566203.2_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)						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)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CTCACTGCCTCGGTTCACAGT	0.577																																						ENST00000374450.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9						c.(562-564)cGa>cAa		eukaryotic translation initiation factor 6							192	146	161					20																	33867534		2203	4300	6503	SO:0001628	intergenic_variant	3692				mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity	g.chr20:33867534C>T	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		20.37:g.33867534C>T			Somatic				EIF6_ENST00000374436.3_Missense_Mutation_p.R188Q|EIF6_ENST00000374443.3_Missense_Mutation_p.R169Q|RP4-614O4.11_ENST00000444717.1_RNA	p.R188Q	NM_002212.3	NP_002203.1	WXS	Illumina GAIIx	Phase_I	P56537	IF6_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		6	827	-			188					B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	c.563G>A	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479787	0.84747	.	.	ENSG00000242372	ENST00000374436;ENST00000374443;ENST00000374450	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.83078	0.5176	M	0.93375	3.41	0.80722	D	1	D;D	0.56287	0.975;0.966	P;B	0.54431	0.752;0.385	D	0.86899	0.2053	9	0.49607	T	0.09	-7.9644	17.8149	0.88628	0.0:1.0:0.0:0.0	.	169;188	B7ZBG9;P56537	.;IF6_HUMAN	Q	188;169;188	.	ENSP00000363559:R188Q	R	-	2	0	EIF6	33330948	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.747000	0.85070	2.534000	0.85438	0.555000	0.69702	CGA		0.577	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		23	91	0	0	0	1	0	23	91					T	33867534	C	T	33867534	1	4	48	0	1	0	0	0	0	0	0	0	5047	884	31	1		1	EIF6	20	33867534	IGR	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	744968	33867534	29157986	4201	8669										
CEP250	11190	broad.mit.edu	37	chr20	34091280	34091280	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaagctgtccttgagagagCgaggccgggagctgaccact	14	11	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:34091280C>T	ENST00000397527.1	+	30	5803	c.5083C>T	c.(5083-5085)Cga>Tga	p.R1695*	CEP250_ENST00000342580.4_Nonsense_Mutation_p.R1639*	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1695	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)			CTTGAGAGAGCGAGGCCGGGA	0.592																																						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.(5083-5085)Cga>Tga		centrosomal protein 250kDa							88	93	92					20																	34091280		2203	4300	6503	SO:0001587	stop_gained	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.chr20:34091280C>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.5083C>T	20.37:g.34091280C>T	ENSP00000380661:p.Arg1695*		Somatic				CEP250_ENST00000342580.4_Nonsense_Mutation_p.R1639*	p.R1695*	NM_007186.3	NP_009117.2	WXS	Illumina GAIIx	Phase_I	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		30	5803	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1695			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Nonsense_Mutation	SNP	ENST00000397527.1	37	c.5083C>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568044	0.65651	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	.	.	.	4.51	3.5	0.40072	.	0.146689	0.32459	N	0.006070	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8374	0.40977	0.3992:0.6008:0.0:0.0	.	.	.	.	X	1695;1639;183	.	ENSP00000341541:R1639X	R	+	1	2	CEP250	33554694	0.616000	0.27035	0.992000	0.48379	0.985000	0.73830	1.458000	0.35223	2.352000	0.79861	0.455000	0.32223	CGA		0.592	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		52	99	0	0	0	1	0	52	99					T	34091280	C	T	34091280	4	4	48	1	0	0	0	0	0	1	0	0	3254	760	27	1	5189	1	CEP250	20	34091280	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	223746	34091280	28934240	4202	8670										
RBM12	10137	broad.mit.edu	37	chr20	34241692	34241692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaagttctgcagtctttttCgaatcatatctatcttttct	5	8	6	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:34241692C>T	ENST00000374114.3	-	3	1816	c.1553G>A	c.(1552-1554)cGa>cAa	p.R518Q	RBM12_ENST00000374104.3_Missense_Mutation_p.R518Q|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.R518Q|CPNE1_ENST00000317677.5_5'Flank|RP1-309K20.6_ENST00000541176.2_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	518						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)			CAGTCTTTTTCGAATCATATC	0.398																																						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.(1552-1554)cGa>cAa		RNA binding motif protein 12							181	176	178					20																	34241692		2203	4300	6503	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241692C>T	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.1553G>A	20.37:g.34241692C>T	ENSP00000363228:p.Arg518Gln		Somatic				CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.R518Q|RBM12_ENST00000359646.1_Missense_Mutation_p.R518Q	p.R518Q	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	1816	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		518					B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.1553G>A	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088002	0.55968	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.15256	2.44;2.44;2.44	4.64	3.69	0.42338	.	0.000000	0.64402	D	0.000004	T	0.11879	0.0289	L	0.27053	0.805	0.80722	D	1	B	0.30281	0.275	B	0.22386	0.039	T	0.09143	-1.0688	10	0.44086	T	0.13	-5.5429	12.9119	0.58184	0.0:0.9218:0.0:0.0782	.	518	Q9NTZ6	RBM12_HUMAN	Q	518;518;518;317	ENSP00000363228:R518Q;ENSP00000352668:R518Q;ENSP00000363217:R518Q	ENSP00000339879:R317Q	R	-	2	0	RBM12	33705106	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.530000	0.67141	1.173000	0.42796	0.561000	0.74099	CGA		0.398	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		61	115	0	0	0	1	0	61	115					T	34241692	C	T	34241692	3	4	48	1	0	0	0	0	1	0	0	0	13128	884	31	1	1249	1	RBM12	20	34241692	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	150412	34241692	28783828	4203	8671										
DSN1	79980	broad.mit.edu	37	chr20	35399573	35399573	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttccaattgatgatcatgagTcttagacatcactggtcctt	7	9	3	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:35399573T>C	ENST00000426836.1	-	3	430	c.58A>G	c.(58-60)Act>Gct	p.T20A	DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000448110.2_Missense_Mutation_p.T4A|DSN1_ENST00000373750.4_Missense_Mutation_p.T20A|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373745.3_Missense_Mutation_p.T20A	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	20					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TGATCATGAGTCTTAGACATC	0.378																																						ENST00000426836.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(58-60)Act>Gct		DSN1, MIS12 kinetochore complex component							124	124	124					20																	35399573		2203	4300	6503	SO:0001583	missense	79980				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr20:35399573T>C	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.58A>G	20.37:g.35399573T>C	ENSP00000389810:p.Thr20Ala		Somatic				DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000448110.1_Missense_Mutation_p.T4A|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373745.3_Missense_Mutation_p.T20A|DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373750.4_Missense_Mutation_p.T20A	p.T20A	NM_001145316.1	NP_001138788.1	WXS	Illumina GAIIx	Phase_I	Q9H410	DSN1_HUMAN			3	430	-		Myeloproliferative disorder(115;0.00874)	20					B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	ENST00000426836.1	37	c.58A>G	CCDS13286.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.467927	0.63625	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373750;ENST00000449595;ENST00000447406	.	.	.	4.97	2.71	0.32032	.	0.575197	0.17333	N	0.178040	T	0.29850	0.0746	L	0.34521	1.04	0.26658	N	0.971961	B	0.14012	0.009	B	0.18263	0.021	T	0.25676	-1.0125	9	0.87932	D	0	-8.0176	6.2943	0.21077	0.0:0.1969:0.0:0.8031	.	20	Q9H410	DSN1_HUMAN	A	20;20;4;20;4;20	.	ENSP00000362850:T20A	T	-	1	0	DSN1	34832987	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	0.438000	0.21559	0.383000	0.24910	0.533000	0.62120	ACT		0.378	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		47	93	0	0	0	1	0	47	93					C	35399573	T	C	35399573	3	2	48	1	0	0	0	0	1	0	0	0	4782	1667	58	4	1048	4	DSN1	20	35399573	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1157881	35399573	27625947	4204	8672										
CTNNBL1	56259	broad.mit.edu	37	chr20	36488328	36488328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccggcgaggagagatcatcGacaatgacaccgaggaggag	15	9	1	2	rs535666882	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:36488328G>A	ENST00000361383.6	+	14	1537	c.1420G>A	c.(1420-1422)Gac>Aac	p.D474N	CTNNBL1_ENST00000405275.2_Missense_Mutation_p.D447N|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.D222N|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.D287N|CTNNBL1_ENST00000473857.1_3'UTR	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	474					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGATCATCGACAATGACAC	0.517													G|||	2	0.000399361	0	0	5008	,	,		17639	0		0	False		,,,				2504	0.002				Ovarian(184;582 2038 3273 4106 42608)	ENST00000405275.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28						c.(1339-1341)Gac>Aac		catenin, beta like 1							57	53	54					20																	36488328		2203	4300	6503	SO:0001583	missense	56259				apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding	g.chr20:36488328G>A	AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"nuclear associated protein"	611537	"chromosome 20 open reading frame 33"	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1420G>A	20.37:g.36488328G>A	ENSP00000355050:p.Asp474Asn		Somatic				CTNNBL1_ENST00000373473.1_Missense_Mutation_p.D287N|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.D222N|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.D474N	p.D447N			WXS	Illumina GAIIx	Phase_I	Q8WYA6	CTBL1_HUMAN			15	1582	+		Myeloproliferative disorder(115;0.00878)	474					B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	ENST00000361383.6	37	c.1339G>A	CCDS13298.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790612	0.70452	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	T;T;T;T	0.50813	0.73;0.74;0.75;0.76	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.60130	0.2245	M	0.72576	2.205	0.80722	D	1	P;D	0.54772	0.646;0.968	B;P	0.52031	0.054;0.688	T	0.60131	-0.7323	10	0.36615	T	0.2	-26.1276	17.9128	0.88939	0.0:0.0:1.0:0.0	.	474;287	Q8WYA6;Q8WYA6-2	CTBL1_HUMAN;.	N	474;447;287;222	ENSP00000355050:D474N;ENSP00000384355:D447N;ENSP00000362572:D287N;ENSP00000362568:D222N	ENSP00000355050:D474N	D	+	1	0	CTNNBL1	35921742	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	9.815000	0.99349	2.463000	0.83235	0.561000	0.74099	GAC		0.517	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		14	21	0	0	0	1	0	14	21					A	36488328	G	A	36488328	3	1	48	1	0	0	0	0	1	0	0	0	4020	1058	37	1	1474	1	CTNNBL1	20	36488328	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1088755	36488328	26537192	4205	8673										
KIAA1755	85449	broad.mit.edu	37	chr20	36874470	36874470	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggtgggtgctgtggcctcgAaaggaggatagaggcccgcc	18	10	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:36874470A>G	ENST00000279024.4	-	2	333	c.62T>C	c.(61-63)tTc>tCc	p.F21S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	21										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGTGGCCTCGAAAGGAGGATA	0.597																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(61-63)tTc>tCc		KIAA1755							53	46	48					20																	36874470		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36874470A>G	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.62T>C	20.37:g.36874470A>G	ENSP00000279024:p.Phe21Ser		Somatic					p.F21S	NM_001029864.1	NP_001025035.1	WXS	Illumina GAIIx	Phase_I	Q5JYT7	K1755_HUMAN			2	333	-		Myeloproliferative disorder(115;0.00874)	21					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.62T>C	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.598340	0.87055	.	.	ENSG00000149633	ENST00000279024	T	0.27256	1.68	5.4	4.23	0.50019	.	0.000000	0.50627	D	0.000119	T	0.50871	0.1641	M	0.80422	2.495	0.49299	D	0.999774	D	0.89917	1.0	D	0.85130	0.997	T	0.56414	-0.7983	10	0.87932	D	0	.	11.6169	0.51094	0.8516:0.1484:0.0:0.0	.	21	Q5JYT7	K1755_HUMAN	S	21	ENSP00000279024:F21S	ENSP00000279024:F21S	F	-	2	0	KIAA1755	36307884	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	7.331000	0.79192	2.172000	0.68678	0.533000	0.62120	TTC		0.597	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		18	29	0	0	0	1	0	18	29					G	36874470	A	G	36874470	3	3	48	1	0	0	0	0	1	0	0	0	8266	246	9	4	3592	4	KIAA1755	20	36874470	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	386142	36874470	26151050	4206	8674										
BPI	671	broad.mit.edu	37	chr20	36938940	36938940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catagaaggcatgtccatttCggctgatctgaagctgggca	12	9	1	3	rs201900727		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:36938940C>T	ENST00000262865.4	+	4	523	c.434C>T	c.(433-435)tCg>tTg	p.S145L	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	145					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				ATGTCCATTTCGGCTGATCTG	0.507													C|||	1	0.000199681	8e-04	0	5008	,	,		21929	0		0	False		,,,				2504	0					ENST00000262865.4																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(433-435)tCg>tTg		bactericidal/permeability-increasing protein		C	LEU/SER	0,4406		0,0,2203	108	94	99		434	-0.8	0	20		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	BPI	NM_001725.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	145/488	36938940	1,13005	2203	4300	6503	SO:0001583	missense	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36938940C>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"BPI fold containing"	1095	protein-coding gene	gene with protein product	"BPI fold containing family D, member 1"	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.434C>T	20.37:g.36938940C>T	ENSP00000262865:p.Ser145Leu		Somatic				CTD-2308N23.2_ENST00000437016.1_RNA	p.S145L	NM_001725.2	NP_001716.2	WXS	Illumina GAIIx	Phase_I	P17213	BPI_HUMAN			4	523	+		Myeloproliferative disorder(115;0.00878)	145					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.434C>T	CCDS13303.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.77	2.038588	0.35989	0.0	1.16E-4	ENSG00000101425	ENST00000262865	T	0.05786	3.39	3.54	-0.808	0.10868	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	1.657350	0.03458	N	0.211768	T	0.06142	0.0159	L	0.52126	1.63	0.09310	N	1	P	0.41848	0.763	B	0.31547	0.132	T	0.42481	-0.9449	10	0.33141	T	0.24	-0.1946	6.461	0.21956	0.0:0.5126:0.0:0.4874	.	145	P17213	BPI_HUMAN	L	145	ENSP00000262865:S145L	ENSP00000262865:S145L	S	+	2	0	BPI	36372354	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.391000	0.07323	-0.119000	0.11830	-0.140000	0.14226	TCG		0.507	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		25	42	0	0	0	1	0	25	42					T	36938940	C	T	36938940	3	4	48	1	0	0	0	0	1	0	0	0	1492	893	31	1	448	1	BPI	20	36938940	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	64470	36938940	26086580	4207	8675										
LBP	3929	broad.mit.edu	37	chr20	36999943	36999943	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggtaaaagtggaactgaaaGaatccaaagttggactattc	11	5	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:36999943G>T	ENST00000217407.2	+	12	1398	c.1237G>T	c.(1237-1239)Gaa>Taa	p.E413*		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	413					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGAACTGAAAGAATCCAAAGT	0.383																																						ENST00000217407.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28						c.(1237-1239)Gaa>Taa		lipopolysaccharide binding protein							87	86	86					20																	36999943		2203	4300	6503	SO:0001587	stop_gained	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36999943G>T		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"BPI fold containing"	6517	protein-coding gene	gene with protein product	"BPI fold containing family D, member 2"	151990	"lipopolysaccharide-binding protein"			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.1237G>T	20.37:g.36999943G>T	ENSP00000217407:p.Glu413*		Somatic					p.E413*	NM_004139.3	NP_004130.2	WXS	Illumina GAIIx	Phase_I	P18428	LBP_HUMAN			12	1398	+		Myeloproliferative disorder(115;0.00878)	413					B2R938|O43438|Q92672|Q9H403|Q9UD66	Nonsense_Mutation	SNP	ENST00000217407.2	37	c.1237G>T	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	G	37	6.377524	0.97520	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	.	.	.	5.17	3.11	0.35812	.	0.166491	0.41194	D	0.000922	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-9.0533	11.9756	0.53089	0.0:0.3333:0.6667:0.0	.	.	.	.	X	413	.	ENSP00000217407:E413X	E	+	1	0	LBP	36433357	1.000000	0.71417	0.995000	0.50966	0.916000	0.54674	2.482000	0.45224	1.394000	0.46624	0.462000	0.41574	GAA		0.383	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		4	29	1	0	0.150653	1	0.151842	4	29					T	36999943	G	T	36999943	4	4	48	1	0	0	0	0	0	1	0	0	8660	943	33	2	1283	2	LBP	20	36999943	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	61003	36999943	26025577	4208	8676										
SLC32A1	140679	broad.mit.edu	37	chr20	37356342	37356342	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaacgtagcgcagatcatcgAgctggtgatgacgtgcatcc	13	10	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:37356342A>G	ENST00000217420.1	+	2	901	c.638A>G	c.(637-639)gAg>gGg	p.E213G		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	213					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CAGATCATCGAGCTGGTGATG	0.632																																						ENST00000217420.1																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(637-639)gAg>gGg		solute carrier family 32 (GABA vesicular transporter), member 1	Glycine(DB00145)						121	92	102					20																	37356342		2203	4300	6503	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356342A>G	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.638A>G	20.37:g.37356342A>G	ENSP00000217420:p.Glu213Gly		Somatic					p.E213G	NM_080552.2	NP_542119.1	WXS	Illumina GAIIx	Phase_I	Q9H598	VIAAT_HUMAN			2	901	+		Myeloproliferative disorder(115;0.00878)	213					Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.638A>G	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.034645	0.75617	.	.	ENSG00000101438	ENST00000217420	T	0.02472	4.28	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.00290	-1.1843	10	0.59425	D	0.04	-21.8598	12.3261	0.55011	1.0:0.0:0.0:0.0	.	213	Q9H598	VIAAT_HUMAN	G	213	ENSP00000217420:E213G	ENSP00000217420:E213G	E	+	2	0	SLC32A1	36789756	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.253000	0.95501	1.877000	0.54381	0.460000	0.39030	GAG		0.632	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		5	63	0	0	0	1	0	5	63					G	37356342	A	G	37356342	3	3	48	1	0	0	0	0	1	0	0	0	14580	304	11	4	644	4	SLC32A1	20	37356342	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	356399	37356342	25669178	4209	8677										
PPP1R16B	26051	broad.mit.edu	37	chr20	37547186	37547186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcggaggcagaacttcaccGtacagcagcaatgggacctc	11	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:37547186G>A	ENST00000299824.1	+	11	1770	c.1581G>A	c.(1579-1581)ccG>ccA	p.P527P	PPP1R16B_ENST00000373331.2_Silent_p.P485P	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	527					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GAACTTCACCGTACAGCAGCA	0.587																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1579-1581)ccG>ccA		protein phosphatase 1, regulatory subunit 16B							74	62	66					20																	37547186		2203	4300	6503	SO:0001819	synonymous_variant	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37547186G>A	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1581G>A	20.37:g.37547186G>A			Somatic				PPP1R16B_ENST00000373331.2_Silent_p.P485P	p.P527P	NM_015568.2	NP_056383.1	WXS	Illumina GAIIx	Phase_I	Q96T49	PP16B_HUMAN			11	1770	+		Myeloproliferative disorder(115;0.00878)	527					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	ENST00000299824.1	37	c.1581G>A	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	G	9.497	1.102326	0.20632	.	.	ENSG00000101445	ENST00000438192	.	.	.	5.35	-6.48	0.01896	.	.	.	.	.	T	0.36468	0.0968	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41998	-0.9477	4	.	.	.	.	2.8795	0.05642	0.4658:0.2804:0.1224:0.1314	.	.	.	.	H	428	.	.	R	+	2	0	PPP1R16B	36980600	0.034000	0.19679	0.871000	0.34182	0.977000	0.68977	-0.864000	0.04254	-0.817000	0.04335	-0.743000	0.03520	CGT		0.587	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		18	43	0	0	0	1	0	18	43					A	37547186	G	A	37547186	2	1	48	1	0	0	0	0	0	0	0	1	12378	1132	40	1		1	PPP1R16B	20	37547186	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	190844	37547186	25478334	4210	8678										
DHX35	60625	broad.mit.edu	37	chr20	37601234	37601234	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attttatacttgatagaaaaTtatcagacagtggtgattgt	8	3	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:37601234T>C	ENST00000252011.3	+	3	240	c.207T>C	c.(205-207)aaT>aaC	p.N69N	DHX35_ENST00000373325.2_Silent_p.N69N|DHX35_ENST00000373323.4_Intron	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	69	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)				TGATAGAAAATTATCAGACAG	0.343																																						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.(205-207)aaT>aaC		DEAH (Asp-Glu-Ala-His) box polypeptide 35							111	116	114					20																	37601234		2203	4300	6503	SO:0001819	synonymous_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37601234T>C	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.207T>C	20.37:g.37601234T>C			Somatic				DHX35_ENST00000373323.4_Intron|DHX35_ENST00000373325.2_Silent_p.N69N	p.N69N	NM_021931.3	NP_068750.2	WXS	Illumina GAIIx	Phase_I	Q9H5Z1	DHX35_HUMAN			3	240	+		Myeloproliferative disorder(115;0.00878)	69			Helicase ATP-binding.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	ENST00000252011.3	37	c.207T>C	CCDS13310.1																																																																																				0.343	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		9	19	0	0	0	1	0	9	19					C	37601234	T	C	37601234	2	2	48	1	0	0	0	0	0	0	0	1	4510	1490	52	4		4	DHX35	20	37601234	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	54048	37601234	25424286	4211	8679										
DHX35	60625	broad.mit.edu	37	chr20	37621001	37621001	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttctctttgattcttagtgTcatcatgctggatgaagccc	8	10	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:37621001T>C	ENST00000252011.3	+	7	548	c.515T>C	c.(514-516)gTc>gCc	p.V172A	DHX35_ENST00000373325.2_Missense_Mutation_p.V172A|DHX35_ENST00000373323.4_Missense_Mutation_p.V141A	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	172	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)				ATTCTTAGTGTCATCATGCTG	0.433																																						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.(514-516)gTc>gCc		DEAH (Asp-Glu-Ala-His) box polypeptide 35							208	185	193					20																	37621001		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37621001T>C	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.515T>C	20.37:g.37621001T>C	ENSP00000252011:p.Val172Ala		Somatic				DHX35_ENST00000373323.4_Missense_Mutation_p.V141A|DHX35_ENST00000373325.2_Missense_Mutation_p.V172A	p.V172A	NM_021931.3	NP_068750.2	WXS	Illumina GAIIx	Phase_I	Q9H5Z1	DHX35_HUMAN			7	548	+		Myeloproliferative disorder(115;0.00878)	172			Helicase ATP-binding.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.515T>C	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014980	0.35511	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.72	-1.23	0.09465	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.243967	0.42420	N	0.000701	T	0.16041	0.0386	L	0.37466	1.105	0.53005	D	0.999965	B;B	0.13145	0.007;0.002	B;B	0.28139	0.086;0.006	T	0.09487	-1.0672	10	0.31617	T	0.26	.	11.3915	0.49817	0.0:0.2634:0.0:0.7366	.	141;172	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	A	172;172;141;137	ENSP00000362422:V172A;ENSP00000252011:V172A;ENSP00000362420:V141A;ENSP00000414630:V137A	ENSP00000252011:V172A	V	+	2	0	DHX35	37054415	0.973000	0.33851	0.987000	0.45799	0.504000	0.33889	0.357000	0.20199	-0.240000	0.09696	-0.242000	0.12053	GTC		0.433	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		19	35	0	0	0	1	0	19	35					C	37621001	T	C	37621001	3	2	48	1	0	0	0	0	1	0	0	0	4510	1667	58	4	541	4	DHX35	20	37621001	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	19767	37621001	25404519	4212	8680										
PLCG1	5335	broad.mit.edu	37	chr20	39800865	39800865	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagataatggaacggaggaaGaagattgccctggagctctc	13	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:39800865G>A	ENST00000373271.1	+	25	3246	c.2841G>A	c.(2839-2841)aaG>aaA	p.K947K	PLCG1_ENST00000373272.2_Silent_p.K947K|PLCG1_ENST00000244007.3_Silent_p.K947K	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	947					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AACGGAGGAAGAAGATTGCCC	0.592																																						ENST00000373272.2																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(2839-2841)aaG>aaA		phospholipase C, gamma 1							158	144	149					20																	39800865		2203	4300	6503	SO:0001819	synonymous_variant	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39800865G>A	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2841G>A	20.37:g.39800865G>A			Somatic				PLCG1_ENST00000244007.3_Silent_p.K947K|PLCG1_ENST00000373271.1_Silent_p.K947K	p.K947K	NM_002660.2	NP_002651.2	WXS	Illumina GAIIx	Phase_I	P19174	PLCG1_HUMAN			25	3246	+		Myeloproliferative disorder(115;0.00878)	947					B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	ENST00000373271.1	37	c.2841G>A	CCDS13314.1																																																																																				0.592	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		27	177	0	0	0	1	0	27	177					A	39800865	G	A	39800865	2	1	48	1	0	0	0	0	0	0	0	1	12044	933	33	3		3	PLCG1	20	39800865	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2179864	39800865	23224655	4213	8681										
PTPRT	11122	broad.mit.edu	37	chr20	40827896	40827896	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttactgaatccgttgacgtcCtgagaactagaagagaagcc	10	9	0	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:40827896C>T	ENST00000373187.1	-	16	2474	c.2475G>A	c.(2473-2475)caG>caA	p.Q825Q	PTPRT_ENST00000373198.4_Silent_p.Q844Q|PTPRT_ENST00000373184.1_Silent_p.Q815Q|PTPRT_ENST00000373190.1_Silent_p.Q825Q|PTPRT_ENST00000356100.2_Silent_p.Q834Q|PTPRT_ENST00000373201.1_Silent_p.Q815Q|PTPRT_ENST00000373193.3_Silent_p.Q828Q			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	825					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGTTGACGTCCTGAGAACTAG	0.567																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(2539-2541)caG>caA		protein tyrosine phosphatase, receptor type, T							357	358	358					20																	40827896		2050	4205	6255	SO:0001819	synonymous_variant	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.chr20:40827896C>T	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.2475G>A	20.37:g.40827896C>T			Somatic				PTPRT_ENST00000373193.3_Silent_p.Q828Q|PTPRT_ENST00000373184.1_Silent_p.Q815Q|PTPRT_ENST00000356100.2_Silent_p.Q834Q|PTPRT_ENST00000373190.1_Silent_p.Q825Q|PTPRT_ENST00000373187.1_Silent_p.Q825Q|PTPRT_ENST00000373201.1_Silent_p.Q815Q	p.Q847Q	NM_133170.3	NP_573400.3	WXS	Illumina GAIIx	Phase_I	O14522	PTPRT_HUMAN			17	2776	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	825					A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.2541G>A	CCDS42874.1																																																																																				0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			155	348	0	0	0	1	0	155	348					T	40827896	C	T	40827896	2	4	48	1	0	0	0	0	0	0	0	1	12827	680	24	3		3	PTPRT	20	40827896	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1027031	40827896	22197624	4214	8682										
PTPRT	11122	broad.mit.edu	37	chr20	40944562	40944562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccgatagctcacgggcaccGaaaagcactcaataatgtca	8	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:40944562G>A	ENST00000373187.1	-	12	1939	c.1940C>T	c.(1939-1941)tCg>tTg	p.S647L	PTPRT_ENST00000373198.4_Missense_Mutation_p.S647L|PTPRT_ENST00000373184.1_Missense_Mutation_p.S647L|PTPRT_ENST00000373190.1_Missense_Mutation_p.S647L|PTPRT_ENST00000356100.2_Missense_Mutation_p.S647L|PTPRT_ENST00000373201.1_Missense_Mutation_p.S647L|PTPRT_ENST00000373193.3_Missense_Mutation_p.S647L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	647	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACGGGCACCGAAAAGCACTC	0.517																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(1939-1941)tCg>tTg		protein tyrosine phosphatase, receptor type, T							104	103	103					20																	40944562		2040	4174	6214	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.chr20:40944562G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1940C>T	20.37:g.40944562G>A	ENSP00000362283:p.Ser647Leu		Somatic				PTPRT_ENST00000373193.3_Missense_Mutation_p.S647L|PTPRT_ENST00000373184.1_Missense_Mutation_p.S647L|PTPRT_ENST00000356100.2_Missense_Mutation_p.S647L|PTPRT_ENST00000373190.1_Missense_Mutation_p.S647L|PTPRT_ENST00000373187.1_Missense_Mutation_p.S647L|PTPRT_ENST00000373201.1_Missense_Mutation_p.S647L	p.S647L	NM_133170.3	NP_573400.3	WXS	Illumina GAIIx	Phase_I	O14522	PTPRT_HUMAN			12	2175	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	647			Fibronectin type-III 4.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1940C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362023	0.61403	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.35789	1.31;1.31;1.31;1.31;1.3;1.29;1.29	5.57	5.57	0.84162	.	0.062950	0.64402	D	0.000003	T	0.32734	0.0839	L	0.38175	1.15	0.51767	D	0.999931	P;B	0.37276	0.589;0.318	B;B	0.33042	0.157;0.075	T	0.17961	-1.0352	10	0.72032	D	0.01	.	19.5559	0.95347	0.0:0.0:1.0:0.0	.	647;647	O14522-1;O14522	.;PTPRT_HUMAN	L	647	ENSP00000362286:S647L;ENSP00000362283:S647L;ENSP00000362289:S647L;ENSP00000348408:S647L;ENSP00000362294:S647L;ENSP00000362280:S647L;ENSP00000362297:S647L	ENSP00000348408:S647L	S	-	2	0	PTPRT	40377976	1.000000	0.71417	0.945000	0.38365	0.995000	0.86356	7.999000	0.88496	2.624000	0.88883	0.563000	0.77884	TCG		0.517	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			51	78	0	0	0	1	0	51	78					A	40944562	G	A	40944562	3	1	48	1	0	0	0	0	1	0	0	0	12827	1059	37	1	2526	1	PTPRT	20	40944562	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	116666	40944562	22080958	4215	8683										
L3MBTL	26013	broad.mit.edu	37	chr20	42163004	42163004	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccctgattcgcgtggccagCgtggaggatgtggaggacca	17	10	0	1	rs373936477		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:42163004C>T	ENST00000427442.2	+	15	1773	c.1614C>T	c.(1612-1614)agC>agT	p.S538S	L3MBTL1_ENST00000373135.3_Silent_p.S470S|L3MBTL1_ENST00000418998.1_Silent_p.S538S|L3MBTL1_ENST00000444063.1_Silent_p.S470S|L3MBTL1_ENST00000373134.1_Silent_p.S470S			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	470					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						GCGTGGCCAGCGTGGAGGATG	0.602																																						ENST00000444063.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(1408-1410)agC>agT		l(3)mbt-like 1 (Drosophila)		C	,	0,4406		0,0,2203	47	50	49		1410,1614	-1.3	1	20		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	L3MBTL1	NM_015478.6,NM_032107.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	470/773,538/841	42163004	1,13005	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.chr20:42163004C>T	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.1614C>T	20.37:g.42163004C>T			Somatic				L3MBTL1_ENST00000373134.1_Silent_p.S470S|L3MBTL1_ENST00000427442.2_Silent_p.S538S|L3MBTL1_ENST00000418998.1_Silent_p.S538S|L3MBTL1_ENST00000373135.3_Silent_p.S470S	p.S470S			WXS	Illumina GAIIx	Phase_I	Q9Y468	LMBL1_HUMAN			12	1542	+			470					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	ENST00000427442.2	37	c.1410C>T	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	C	9.785	1.176413	0.21704	0.0	1.16E-4	ENSG00000185513	ENST00000445228	.	.	.	5.39	-1.3	0.09259	.	.	.	.	.	T	0.55689	0.1936	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51957	-0.8639	4	.	.	.	.	9.9903	0.41868	0.0:0.2745:0.0:0.7255	.	.	.	.	V	161	.	.	A	+	2	0	L3MBTL1	41596418	0.031000	0.19500	0.998000	0.56505	0.979000	0.70002	-0.967000	0.03821	-0.056000	0.13221	-0.793000	0.03317	GCG		0.602	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		27	38	0	0	0	1	0	27	38					T	42163004	C	T	42163004	2	4	48	1	0	0	0	0	0	0	0	1	8600	767	27	1		1	L3MBTL	20	42163004	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1218442	42163004	20862516	4216	8684										
SGK2	10110	broad.mit.edu	37	chr20	42203567	42203567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtacttggcacctgaagtgCttcggaaagagccttatgat	11	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:42203567C>T	ENST00000341458.4	+	9	1015	c.796C>T	c.(796-798)Ctt>Ttt	p.L266F	SGK2_ENST00000373100.1_Missense_Mutation_p.L206F|SGK2_ENST00000373077.1_Missense_Mutation_p.L205F|SGK2_ENST00000373092.3_Missense_Mutation_p.L206F|SGK2_ENST00000426287.1_Missense_Mutation_p.L232F|SGK2_ENST00000423407.3_Missense_Mutation_p.L206F	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCTGAAGTGCTTCGGAAAGA	0.502																																						ENST00000373100.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(616-618)Ctt>Ttt		serum/glucocorticoid regulated kinase 2							101	92	95					20																	42203567		2203	4300	6503	SO:0001583	missense	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42203567C>T	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.796C>T	20.37:g.42203567C>T	ENSP00000340608:p.Leu266Phe		Somatic				SGK2_ENST00000373092.3_Missense_Mutation_p.L206F|SGK2_ENST00000373077.1_Missense_Mutation_p.L205F|SGK2_ENST00000423407.3_Missense_Mutation_p.L206F|SGK2_ENST00000426287.1_Missense_Mutation_p.L232F|SGK2_ENST00000341458.4_Missense_Mutation_p.L266F	p.L206F			WXS	Illumina GAIIx	Phase_I	Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		11	1076	+		Myeloproliferative disorder(115;0.00452)	266			Protein kinase.		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	c.616C>T	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178756	0.57692	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	4.81	3.86	0.44501	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	0.68769	0.3037	N	0.13235	0.315	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.97;0.99;0.999	T	0.71234	-0.4653	10	0.87932	D	0	.	8.7384	0.34543	0.0:0.8397:0.0:0.1603	.	232;266;206	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	F	206;206;205;206;266;232	ENSP00000362192:L206F;ENSP00000362184:L206F;ENSP00000362168:L205F;ENSP00000392795:L206F;ENSP00000340608:L266F;ENSP00000412214:L232F	ENSP00000340608:L266F	L	+	1	0	SGK2	41636981	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	3.879000	0.56138	2.598000	0.87819	0.462000	0.41574	CTT		0.502	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			22	23	0	0	0	1	0	22	23					T	42203567	C	T	42203567	3	4	48	1	0	0	0	0	1	0	0	0	14224	797	28	3	830	3	SGK2	20	42203567	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	40563	42203567	20821953	4217	8685										
KCNK15	140730	broad.mit.edu	37	chr20	43378957	43378957	+	IGR	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggacgtgcgtgtccacggaGaacctggtggtggccgggct	18	10	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:43378957G>T	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Missense_Mutation_p.E157D	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TGTCCACGGAGAACCTGGTGG	0.701																																						ENST00000372861.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						c.(469-471)gaG>gaT		potassium channel, subfamily K, member 15							24	23	23					20																	43378957		2199	4297	6496	SO:0001628	intergenic_variant	60598					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr20:43378957G>T		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"chromosome 20 open reading frame 190"	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43378957G>T			Somatic					p.E157D	NM_022358.3	NP_071753.2	WXS	Illumina GAIIx	Phase_I	Q9H427	KCNKF_HUMAN			2	602	+		Myeloproliferative disorder(115;0.0122)	157					A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.471G>T	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124937	0.37533	.	.	ENSG00000124249	ENST00000372861	D	0.97404	-4.37	4.29	3.34	0.38264	.	0.132434	0.48767	U	0.000170	D	0.94401	0.8199	M	0.65498	2.005	0.41115	D	0.985778	B	0.06786	0.001	B	0.06405	0.002	D	0.89576	0.3817	10	0.12766	T	0.61	.	9.3758	0.38281	0.1725:0.0:0.8275:0.0	.	157	Q9H427	KCNKF_HUMAN	D	157	ENSP00000361952:E157D	ENSP00000361952:E157D	E	+	3	2	KCNK15	42812371	1.000000	0.71417	0.997000	0.53966	0.913000	0.54294	2.082000	0.41605	1.013000	0.39391	0.655000	0.94253	GAG		0.701	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		15	8	1	0	1.49906e-05	1	1.64923e-05	15	8					T	43378957	G	T	43378957	1	4	48	0	1	0	0	0	0	0	0	0	8071	933	33	2		2	KCNK15	20	43378957	IGR	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1175390	43378957	19646563	4218	8686										
STK4	6789	broad.mit.edu	37	chr20	43653766	43653766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taccacaggatggagactacGagtttgtaagtagtgttgga	13	5	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:43653766G>A	ENST00000372806.3	+	10	1395	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	STK4_ENST00000499879.2_Missense_Mutation_p.E379K|STK4_ENST00000372801.1_Missense_Mutation_p.E434K|STK4_ENST00000396731.4_Missense_Mutation_p.E434K	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	434	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)			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)				TGGAGACTACGAGTTTGTAAG	0.378																																					GBM(187;1039 2137 11798 21916 33213)	ENST00000372806.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(1300-1302)Gag>Aag		serine/threonine kinase 4							97	94	95					20																	43653766		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.chr20:43653766G>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.1300G>A	20.37:g.43653766G>A	ENSP00000361892:p.Glu434Lys		Somatic				STK4_ENST00000372801.1_Missense_Mutation_p.E434K|STK4_ENST00000499879.2_Missense_Mutation_p.E379K|STK4_ENST00000396731.4_Missense_Mutation_p.E434K	p.E434K	NM_006282.2	NP_006273.1	WXS	Illumina GAIIx	Phase_I	Q13043	STK4_HUMAN			10	1395	+		Myeloproliferative disorder(115;0.0122)	434			SARAH.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.1300G>A	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757440	0.89843	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	6.16	6.16	0.99307	SARAH domain (1);SARAH (1);Protein kinase-like domain (1);	0.218420	0.42821	D	0.000649	T	0.79799	0.4508	L	0.40543	1.245	0.42193	D	0.991732	P;D;P	0.54397	0.936;0.966;0.948	P;B;P	0.49887	0.491;0.324;0.625	T	0.81252	-0.1017	10	0.66056	D	0.02	.	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	379;434;434	F5H5B4;Q13043-2;Q13043	.;.;STK4_HUMAN	K	434;434;434;379	ENSP00000361892:E434K;ENSP00000379957:E434K;ENSP00000361887:E434K;ENSP00000443514:E379K	ENSP00000361887:E434K	E	+	1	0	STK4	43087180	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.031000	0.64134	2.937000	0.99478	0.650000	0.86243	GAG		0.378	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		12	37	0	0	0	1	0	12	37					A	43653766	G	A	43653766	3	1	48	1	0	0	0	0	1	0	0	0	15321	1059	37	1	1338	1	STK4	20	43653766	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	274809	43653766	19371754	4219	8687										
SEMG1	6406	broad.mit.edu	37	chr20	43836602	43836602	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaataaagggcattaccaaAatgtggttgaagtgagagag	12	3	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:43836602A>C	ENST00000372781.3	+	2	721	c.664A>C	c.(664-666)Aat>Cat	p.N222H	SEMG1_ENST00000244069.6_Missense_Mutation_p.N222H	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	222	Interaction with EPPIN.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GCATTACCAAAATGTGGTTGA	0.398																																						ENST00000372781.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(664-666)Aat>Cat		semenogelin I							98	85	90					20																	43836602		2203	4300	6503	SO:0001583	missense	6406							g.chr20:43836602A>C		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"semen coagulating protein", "cancer/testis antigen 103"	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.664A>C	20.37:g.43836602A>C	ENSP00000361867:p.Asn222His		Somatic				SEMG1_ENST00000244069.6_Missense_Mutation_p.N222H	p.N222H	NM_003007.3	NP_002998.1	WXS	Illumina GAIIx	Phase_I					2	721	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.664A>C	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	A	9.905	1.207822	0.22205	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.12672	2.66;2.66	1.24	-2.15	0.07102	.	.	.	.	.	T	0.28034	0.0691	M	0.75447	2.3	0.09310	N	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.91635	0.997;0.917;0.999	T	0.14755	-1.0461	9	0.66056	D	0.02	.	2.0707	0.03613	0.4051:0.2994:0.0:0.2955	.	222;222;222	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	H	222	ENSP00000244069:N222H;ENSP00000361867:N222H	ENSP00000244069:N222H	N	+	1	0	SEMG1	43270016	0.009000	0.17119	0.006000	0.13384	0.003000	0.03518	0.356000	0.20181	-0.635000	0.05531	-0.472000	0.04984	AAT		0.398	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		34	64	0	0	0	1	0	34	64					C	43836602	A	C	43836602	3	2	48	1	0	0	0	0	1	0	0	0	14059	14	1	4	670	4	SEMG1	20	43836602	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	182836	43836602	19188918	4220	8688										
SEMG2	6407	broad.mit.edu	37	chr20	43851032	43851032	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caacatggacccaaagacatTtttactacccaagatgagct	6	11	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:43851032T>G	ENST00000372769.3	+	2	849	c.759T>G	c.(757-759)atT>atG	p.I253M		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	253	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCAAAGACATTTTTACTACCC	0.403																																						ENST00000372769.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(757-759)atT>atG		semenogelin II							117	116	116					20																	43851032		2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851032T>G		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.759T>G	20.37:g.43851032T>G	ENSP00000361855:p.Ile253Met		Somatic					p.I253M	NM_003008.2	NP_002999.1	WXS	Illumina GAIIx	Phase_I	Q02383	SEMG2_HUMAN			2	849	+		Myeloproliferative disorder(115;0.0122)	253			Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.759T>G	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	T	9.801	1.180475	0.21787	.	.	ENSG00000124157	ENST00000372769	T	0.10288	2.89	1.57	0.428	0.16499	.	.	.	.	.	T	0.21145	0.0509	L	0.54323	1.7	0.09310	N	1	D;D;D	0.71674	0.997;0.998;0.996	D;D;D	0.80764	0.994;0.973;0.951	T	0.11348	-1.0591	9	0.62326	D	0.03	.	3.3447	0.07131	0.0:0.236:0.0:0.764	.	253;253;253	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	M	253	ENSP00000361855:I253M	ENSP00000361855:I253M	I	+	3	3	SEMG2	43284446	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.082000	0.11304	0.084000	0.17077	-0.250000	0.11733	ATT		0.403	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		38	73	0	0	0	1	0	38	73					G	43851032	T	G	43851032	3	3	48	1	0	0	0	0	1	0	0	0	14060	1829	64	4	765	4	SEMG2	20	43851032	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	14430	43851032	19174488	4221	8689										
SNX21	90203	broad.mit.edu	37	chr20	44469369	44469369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggactttgagcggctgcaccGaaacctgcagcggcaattcc	12	13	0	1	rs201926135		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:44469369G>A	ENST00000491381.1	+	4	607	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000372541.1_3'UTR|SNX21_ENST00000342644.5_Missense_Mutation_p.R180Q|SNX21_ENST00000372542.1_Missense_Mutation_p.R171Q|SNX21_ENST00000344780.4_3'UTR			Q969T3	SNX21_HUMAN	sorting nexin family member 21	180	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CGGCTGCACCGAAACCTGCAG	0.637													G|||	1	0.000199681	0	0	5008	,	,		15014	0		0	False		,,,				2504	0.001					ENST00000372542.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(511-513)cGa>cAa		sorting nexin family member 21							68	74	72					20																	44469369		2203	4300	6503	SO:0001583	missense	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44469369G>A	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"Sorting nexins", "Tetratricopeptide (TTC) repeat domain containing"	16154	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 161"	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.539G>A	20.37:g.44469369G>A	ENSP00000418593:p.Arg180Gln		Somatic				SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000372541.1_3'UTR|SNX21_ENST00000491381.1_Missense_Mutation_p.R180Q|SNX21_ENST00000342644.5_Missense_Mutation_p.R180Q	p.R171Q			WXS	Illumina GAIIx	Phase_I	Q969T3	SNX21_HUMAN			3	824	+		Myeloproliferative disorder(115;0.0122)	180			PX.		Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Missense_Mutation	SNP	ENST00000491381.1	37	c.512G>A	CCDS13377.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803604	0.70682	.	.	ENSG00000124104	ENST00000491381;ENST00000342644;ENST00000372542	T;T;T	0.40476	1.03;1.03;1.03	4.32	4.32	0.51571	Phox homologous domain (5);	0.497022	0.19809	N	0.105575	T	0.41096	0.1144	N	0.19112	0.55	0.58432	D	0.999999	D;D;D	0.65815	0.993;0.96;0.995	P;P;P	0.52627	0.69;0.488;0.704	T	0.40757	-0.9546	10	0.51188	T	0.08	-5.161	15.9699	0.80004	0.0:0.0:1.0:0.0	.	171;180;180	Q5JZH3;Q969T3;Q5JZH5	.;SNX21_HUMAN;.	Q	180;180;171	ENSP00000418593:R180Q;ENSP00000344586:R180Q;ENSP00000361620:R171Q	ENSP00000344586:R180Q	R	+	2	0	SNX21	43902776	0.990000	0.36364	0.999000	0.59377	0.989000	0.77384	2.591000	0.46163	2.249000	0.74217	0.462000	0.41574	CGA		0.637	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		50	126	0	0	0	1	0	50	126					A	44469369	G	A	44469369	3	1	48	1	0	0	0	0	1	0	0	0	14908	1058	37	1	568	1	SNX21	20	44469369	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	618337	44469369	18556151	4222	8690										
MMP9	4318	broad.mit.edu	37	chr20	44639584	44639584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acggagacgggtatcccttcGacgggaaggacgggctcctg	16	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:44639584G>A	ENST00000372330.3	+	4	563	c.544G>A	c.(544-546)Gac>Aac	p.D182N	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)	182					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)	GTATCCCTTCGACGGGAAGGA	0.622																																						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.(544-546)Gac>Aac		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						83	72	76					20																	44639584		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.chr20:44639584G>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.544G>A	20.37:g.44639584G>A	ENSP00000361405:p.Asp182Asn		Somatic					p.D182N	NM_004994.2	NP_004985.2	WXS	Illumina GAIIx	Phase_I	P14780	MMP9_HUMAN			4	563	+		Myeloproliferative disorder(115;0.0122)	182					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.544G>A	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	36	5.667683	0.96745	.	.	ENSG00000100985	ENST00000372330	T	0.37752	1.18	4.62	4.62	0.57501	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72366	0.3451	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82528	-0.0412	10	0.87932	D	0	.	16.9809	0.86327	0.0:0.0:1.0:0.0	.	182	P14780	MMP9_HUMAN	N	182	ENSP00000361405:D182N	ENSP00000361405:D182N	D	+	1	0	MMP9	44072991	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.601000	0.98297	2.553000	0.86117	0.650000	0.86243	GAC		0.622	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			33	55	0	0	0	1	0	33	55					A	44639584	G	A	44639584	3	1	48	1	0	0	0	0	1	0	0	0	9678	1058	37	1	558	1	MMP9	20	44639584	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	170215	44639584	18385936	4223	8691										
SLC12A5	57468	broad.mit.edu	37	chr20	44671793	44671793	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcattctgtctccccacagaGaacctctggagctcctacct	7	16	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:44671793G>T	ENST00000454036.2	+	9	1186	c.1137G>T	c.(1135-1137)gaG>gaT	p.E379D	SLC12A5_ENST00000243964.3_Splice_Site_p.E356D	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	379					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)	TCCCCACAGAGAACCTCTGGA	0.607																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.e9-1		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						124	119	121					20																	44671793		2203	4300	6503	SO:0001630	splice_region_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44671793G>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.1136-1G>T	20.37:g.44671793G>T			Somatic				SLC12A5_ENST00000243964.3_Splice_Site_p.E356_splice|SLC12A5_ENST00000539566.1_Intron	p.E379_splice	NM_001134771.1	NP_001128243.1	WXS	Illumina GAIIx	Phase_I	Q9H2X9	S12A5_HUMAN			9	1213	+		Myeloproliferative disorder(115;0.0122)	379					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Splice_Site	SNP	ENST00000454036.2	37	c.1135_splice	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	9.797	1.179557	0.21787	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.68765	-0.35;-0.35	4.47	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.44138	0.1279	N	0.20845	0.615	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.002;0.005	T	0.28396	-1.0045	10	0.11794	T	0.64	.	7.4351	0.27150	0.0896:0.0:0.7415:0.1689	.	379;356	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	D	379;356	ENSP00000387694:E379D;ENSP00000243964:E356D	ENSP00000243964:E356D	E	+	3	2	SLC12A5	44105200	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.587000	0.36622	2.470000	0.83445	0.462000	0.41574	GAG		0.607	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		Missense_Mutation	7	217	1	0	0.248553	1	0.24944	7	217					T	44671793	G	T	44671793	5	4	48	1	0	0	0	0	0	0	1	0	14401	956	33	2	1227	2	SLC12A5	20	44671793	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	32209	44671793	18353727	4224	8692										
CDH22	64405	broad.mit.edu	37	chr20	44803550	44803550	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgccgcccttgagctcgccGaagtcgtagaggctccgcag	13	15	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:44803550G>A	ENST00000372262.3	-	11	2482	c.2082C>T	c.(2080-2082)ttC>ttT	p.F694F	CDH22_ENST00000537909.1_Silent_p.F694F	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	694					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)				TGAGCTCGCCGAAGTCGTAGA	0.731																																						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.(2080-2082)ttC>ttT		cadherin 22, type 2							13	14	14					20																	44803550		1976	4083	6059	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44803550G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.2082C>T	20.37:g.44803550G>A			Somatic				CDH22_ENST00000537909.1_Silent_p.F694F	p.F694F	NM_021248.1	NP_067071.1	WXS	Illumina GAIIx	Phase_I	Q9UJ99	CAD22_HUMAN			11	2482	-		Myeloproliferative disorder(115;0.0122)	694					B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.2082C>T	CCDS13395.1																																																																																				0.731	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		3	17	0	0	0	1	0	3	17					A	44803550	G	A	44803550	2	1	48	1	0	0	0	0	0	0	0	1	3109	1049	37	1		1	CDH22	20	44803550	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	131757	44803550	18221970	4225	8693										
ZNF334	55713	broad.mit.edu	37	chr20	45130994	45130994	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgacttccgaaaaaaggtCtttccacattcattacactc	5	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:45130994C>A	ENST00000347606.4	-	5	1166	c.984G>T	c.(982-984)aaG>aaT	p.K328N	ZNF334_ENST00000457685.2_Missense_Mutation_p.K290N|ZNF334_ENST00000593880.1_Missense_Mutation_p.K351N	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	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)			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)				GAAAAAAGGTCTTTCCACATT	0.438																																						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.(868-870)aaG>aaT		zinc finger protein 334							119	123	121					20																	45130994		2202	4300	6502	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130994C>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.984G>T	20.37:g.45130994C>A	ENSP00000255129:p.Lys328Asn		Somatic				ZNF334_ENST00000347606.4_Missense_Mutation_p.K328N|ZNF334_ENST00000593880.1_Missense_Mutation_p.K351N	p.K290N			WXS	Illumina GAIIx	Phase_I	Q9HCZ1	ZN334_HUMAN			6	2193	-		Myeloproliferative disorder(115;0.0122)	328					Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.870G>T	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511463	0.44660	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.27890	3.15;1.64	3.3	1.22	0.21188	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52338	0.1728	M	0.93197	3.39	0.21604	N	0.999622	P;P;P	0.51351	0.944;0.944;0.944	P;P;P	0.55749	0.783;0.783;0.783	T	0.45527	-0.9255	9	0.72032	D	0.01	.	3.6032	0.08032	0.0:0.5449:0.2121:0.243	.	290;328;351	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	N	290;328	ENSP00000402582:K290N;ENSP00000255129:K328N	ENSP00000255129:K328N	K	-	3	2	ZNF334	44564401	0.001000	0.12720	0.037000	0.18230	0.989000	0.77384	-0.381000	0.07417	0.190000	0.20209	0.591000	0.81541	AAG		0.438	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			4	107	1	0	0.184627	1	0.185817	4	107					A	45130994	C	A	45130994	3	1	48	1	0	0	0	0	1	0	0	0	17866	912	32	2	1062	2	ZNF334	20	45130994	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	327444	45130994	17894526	4226	8694										
SLC13A3	64849	broad.mit.edu	37	chr20	45194982	45194982	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccagggcggggggcacattCtccagggggtgcagctgccc	18	13	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:45194982C>A	ENST00000279027.4	-	11	1398	c.1380G>T	c.(1378-1380)gaG>gaT	p.E460D	SLC13A3_ENST00000290317.5_Missense_Mutation_p.E413D|SLC13A3_ENST00000472148.1_Missense_Mutation_p.E378D|SLC13A3_ENST00000435032.1_Missense_Mutation_p.E45D|SLC13A3_ENST00000396360.1_Missense_Mutation_p.E378D|SLC13A3_ENST00000413164.2_Missense_Mutation_p.E410D|SLC13A3_ENST00000495082.1_Missense_Mutation_p.E413D	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	460					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGGGCACATTCTCCAGGGGGT	0.617																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1378-1380)gaG>gaT		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						91	93	93					20																	45194982		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45194982C>A	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"Solute carriers"	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1380G>T	20.37:g.45194982C>A	ENSP00000279027:p.Glu460Asp		Somatic				SLC13A3_ENST00000472148.1_Missense_Mutation_p.E378D|SLC13A3_ENST00000435032.1_Missense_Mutation_p.E45D|SLC13A3_ENST00000495082.1_Missense_Mutation_p.E413D|SLC13A3_ENST00000290317.5_Missense_Mutation_p.E413D|SLC13A3_ENST00000413164.2_Missense_Mutation_p.E410D|SLC13A3_ENST00000396360.1_Missense_Mutation_p.E378D	p.E460D	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	WXS	Illumina GAIIx	Phase_I	Q8WWT9	S13A3_HUMAN			11	1398	-		Myeloproliferative disorder(115;0.0122)	460					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.1380G>T	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324424	0.41197	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000435032;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082	T;T;T;T;T;T;T	0.02837	4.14;4.14;4.14;4.14;4.14;4.14;4.14	5.25	4.3	0.51218	.	0.112351	0.64402	D	0.000012	T	0.07908	0.0198	L	0.37630	1.12	0.80722	D	1	P;D;D;D;D;D	0.71674	0.952;0.998;0.975;0.971;0.977;0.997	P;P;P;P;P;D	0.68621	0.828;0.904;0.827;0.718;0.885;0.959	T	0.48958	-0.8988	10	0.22706	T	0.39	-18.6572	13.8396	0.63430	0.0:0.9259:0.0:0.0741	.	410;45;378;413;362;460	B4DIR8;B4E181;Q8WWT9-3;F6WI18;B4DF27;Q8WWT9	.;.;.;.;.;S13A3_HUMAN	D	413;378;45;460;378;410;413	ENSP00000290317:E413D;ENSP00000379648:E378D;ENSP00000403394:E45D;ENSP00000279027:E460D;ENSP00000420177:E378D;ENSP00000415852:E410D;ENSP00000419621:E413D	ENSP00000279027:E460D	E	-	3	2	SLC13A3	44628389	0.923000	0.31300	0.903000	0.35520	0.445000	0.32107	1.554000	0.36266	1.208000	0.43306	-0.258000	0.10820	GAG		0.617	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			43	95	1	0	1.41504e-22	1	1.969e-22	43	95					A	45194982	C	A	45194982	3	1	48	1	0	0	0	0	1	0	0	0	14408	912	32	2	440	2	SLC13A3	20	45194982	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	63988	45194982	17830538	4227	8695										
SLC2A10	81031	broad.mit.edu	37	chr20	45362452	45362452	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcatcccgtacagccgcatCgagatctctgcggcctcctg	11	16	1	1	rs148470005		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:45362452C>T	ENST00000359271.2	+	5	1855	c.1605C>T	c.(1603-1605)atC>atT	p.I535I		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	535					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				ACAGCCGCATCGAGATCTCTG	0.592													T|||	1	0.000199681	0	0	5008	,	,		19477	0		0.001	False		,,,				2504	0					ENST00000359271.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1603-1605)atC>atT		solute carrier family 2 (facilitated glucose transporter), member 10							95	78	83					20																	45362452		2203	4300	6503	SO:0001819	synonymous_variant	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45362452C>T	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"Solute carriers"	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1605C>T	20.37:g.45362452C>T			Somatic					p.I535I	NM_030777.3	NP_110404.1	WXS	Illumina GAIIx	Phase_I	O95528	GTR10_HUMAN			5	1855	+		Myeloproliferative disorder(115;0.0122)	535					A8K4J6|Q3MIX5|Q9H4I6	Silent	SNP	ENST00000359271.2	37	c.1605C>T	CCDS13402.1																																																																																				0.592	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			30	45	0	0	0	1	0	30	45					T	45362452	C	T	45362452	2	4	48	1	0	0	0	0	0	0	0	1	14554	874	31	1		1	SLC2A10	20	45362452	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	167470	45362452	17663068	4228	8696										
ZMYND8	23613	broad.mit.edu	37	chr20	45853141	45853141	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttctccaactccagctgctTcttcacctcggcgatgagcc	7	17	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:45853141T>C	ENST00000311275.7	-	19	3278	c.3025A>G	c.(3025-3027)Aag>Gag	p.K1009E	ZMYND8_ENST00000262975.4_Missense_Mutation_p.K963E|ZMYND8_ENST00000458360.2_Missense_Mutation_p.K877E|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K1036E|ZMYND8_ENST00000396281.4_Missense_Mutation_p.K1009E|ZMYND8_ENST00000446994.2_Missense_Mutation_p.K900E|ZMYND8_ENST00000352431.2_Missense_Mutation_p.K983E|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K958E|ZMYND8_ENST00000471951.2_Missense_Mutation_p.K1029E|ZMYND8_ENST00000372023.3_Missense_Mutation_p.K931E|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K983E|ZMYND8_ENST00000355972.4_Missense_Mutation_p.K1009E|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K957E	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	1009					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)			TCCAGCTGCTTCTTCACCTCG	0.592																																						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.(3025-3027)Aag>Gag		zinc finger, MYND-type containing 8							172	148	156					20																	45853141		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45853141T>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.3025A>G	20.37:g.45853141T>C	ENSP00000312237:p.Lys1009Glu		Somatic				ZMYND8_ENST00000355972.4_Missense_Mutation_p.K1009E|ZMYND8_ENST00000352431.2_Missense_Mutation_p.K983E|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K957E|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K958E|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K1036E|ZMYND8_ENST00000446994.2_Missense_Mutation_p.K900E|ZMYND8_ENST00000458360.2_Missense_Mutation_p.K877E|ZMYND8_ENST00000372023.3_Missense_Mutation_p.K931E|ZMYND8_ENST00000262975.4_Missense_Mutation_p.K963E|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K983E|ZMYND8_ENST00000471951.2_Missense_Mutation_p.K1029E|ZMYND8_ENST00000396281.4_Missense_Mutation_p.K1009E	p.K1009E			WXS	Illumina GAIIx	Phase_I	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		19	3278	-			1009					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.3025A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.4|28.4	4.920322|4.920322	0.92249|0.92249	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|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;0.62;-0.74	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84638|0.84638	0.5516|0.5516	M|M	0.67953|0.67953	2.075|2.075	0.53005|0.53005	D|D	0.999966|0.999966	.|D;D;D;D;D;D;D;D;D;D;D;D;P;P;D;D	.|0.76494	.|0.997;0.999;0.997;0.998;0.999;0.998;0.999;0.998;0.998;0.997;0.997;0.997;0.608;0.728;0.998;0.997	.|D;D;D;D;D;D;D;D;D;D;D;D;B;P;D;D	.|0.87578	.|0.985;0.998;0.995;0.991;0.998;0.998;0.996;0.996;0.998;0.995;0.995;0.995;0.415;0.706;0.991;0.995	D|D	0.85251|0.85251	0.1044|0.1044	5|10	.|0.49607	.|T	.|0.09	-3.8904|-3.8904	15.543|15.543	0.76070|0.76070	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|877;1036;931;938;1029;963;958;983;983;1009;900;958;957;902;911;1009	.|B7ZM62;F5H0X3;Q2HXV3;Q5TH11;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	G|E	890|958;1009;877;964;1030;983;1009;1036;1009;900;983;931;957	.|ENSP00000354166:K958E;ENSP00000312237:K1009E;ENSP00000392964:K877E;ENSP00000335537:K983E;ENSP00000379577:K1009E;ENSP00000439800:K1036E;ENSP00000348246:K1009E;ENSP00000396725:K900E;ENSP00000418210:K983E;ENSP00000361093:K931E;ENSP00000443086:K957E	.|ENSP00000262975:K964E	E|K	-|-	2|1	0|0	ZMYND8|ZMYND8	45286548|45286548	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.988000|7.988000	0.88194|0.88194	2.060000|2.060000	0.61445|0.61445	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.592	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		60	110	0	0	0	1	0	60	110					C	45853141	T	C	45853141	3	2	48	1	0	0	0	0	1	0	0	0	17726	1792	62	4	639	4	ZMYND8	20	45853141	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	490689	45853141	17172379	4229	8697										
ARFGEF2	10564	broad.mit.edu	37	chr20	47630161	47630161	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggtgacagagtctgggtcCgaggctggttccccatctta	13	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:47630161C>T	ENST00000371917.4	+	29	3979	c.3979C>T	c.(3979-3981)Cga>Tga	p.R1327*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1327					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)			AGTCTGGGTCCGAGGCTGGTT	0.458																																					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.(3979-3981)Cga>Tga		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							124	119	121					20																	47630161		2203	4300	6503	SO:0001587	stop_gained	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47630161C>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.3979C>T	20.37:g.47630161C>T	ENSP00000360985:p.Arg1327*		Somatic					p.R1327*	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)		29	3979	+			1327					Q5TFT9|Q9NTS1	Nonsense_Mutation	SNP	ENST00000371917.4	37	c.3979C>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	42	9.456242	0.99175	.	.	ENSG00000124198	ENST00000371917	.	.	.	5.7	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7436	0.62862	0.3472:0.6528:0.0:0.0	.	.	.	.	X	1327	.	ENSP00000360985:R1327X	R	+	1	2	ARFGEF2	47063568	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.117000	0.64667	1.348000	0.45733	0.491000	0.48974	CGA		0.458	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		32	46	0	0	0	1	0	32	46					T	47630161	C	T	47630161	4	4	48	1	0	0	0	0	0	1	0	0	853	644	23	1	4093	1	ARFGEF2	20	47630161	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1777020	47630161	15395359	4230	8698										
ARFGEF2	10564	broad.mit.edu	37	chr20	47649561	47649561	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttctctcccacctcaagtTcaaagcacatgcttcaatgt	5	13	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:47649561T>C	ENST00000371917.4	+	39	5183	c.5183T>C	c.(5182-5184)tTc>tCc	p.F1728S		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1728					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)			CACCTCAAGTTCAAAGCACAT	0.403																																					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.e39-1		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							69	62	64					20																	47649561		2203	4300	6503	SO:0001630	splice_region_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47649561T>C	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.5182-1T>C	20.37:g.47649561T>C			Somatic					p.F1728_splice	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)		39	5183	+			1728					Q5TFT9|Q9NTS1	Splice_Site	SNP	ENST00000371917.4	37	c.5181_splice	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.664439	0.88251	.	.	ENSG00000124198	ENST00000371917	T	0.64618	-0.11	5.66	5.66	0.87406	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76506	0.3997	M	0.86651	2.83	0.80722	D	1	D	0.55172	0.97	P	0.52066	0.689	T	0.81998	-0.0675	10	0.87932	D	0	.	15.8894	0.79279	0.0:0.0:0.0:1.0	.	1728	Q9Y6D5	BIG2_HUMAN	S	1728	ENSP00000360985:F1728S	ENSP00000360985:F1728S	F	+	2	0	ARFGEF2	47082968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.150000	0.67090	0.533000	0.62120	TTC		0.403	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	Missense_Mutation	16	28	0	0	0	1	0	16	28					C	47649561	T	C	47649561	5	2	48	1	0	0	0	0	0	0	1	0	853	1797	62	4	5337	4	ARFGEF2	20	47649561	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	19400	47649561	15375959	4231	8699										
STAU1	6780	broad.mit.edu	37	chr20	47733749	47733749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attgataagagatacaaattCgttcttgttgtttttgggga	10	3	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:47733749C>T	ENST00000371856.2	-	12	1956	c.1546G>A	c.(1546-1548)Gaa>Aaa	p.E516K	STAU1_ENST00000371802.1_Missense_Mutation_p.E441K|STAU1_ENST00000371828.3_Missense_Mutation_p.E441K|STAU1_ENST00000371792.1_Missense_Mutation_p.E433K|STAU1_ENST00000340954.7_Missense_Mutation_p.E435K|STAU1_ENST00000360426.4_Missense_Mutation_p.E435K|STAU1_ENST00000347458.5_Missense_Mutation_p.E435K	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	516					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)			GATACAAATTCGTTCTTGTTG	0.483																																						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.(1321-1323)Gaa>Aaa		staufen double-stranded RNA binding protein 1							238	223	228					20																	47733749		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47733749C>T		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.1546G>A	20.37:g.47733749C>T	ENSP00000360922:p.Glu516Lys		Somatic				STAU1_ENST00000340954.7_Missense_Mutation_p.E435K|STAU1_ENST00000371802.1_Missense_Mutation_p.E441K|STAU1_ENST00000371792.1_Missense_Mutation_p.E433K|STAU1_ENST00000371856.2_Missense_Mutation_p.E516K|STAU1_ENST00000347458.5_Missense_Mutation_p.E435K|STAU1_ENST00000360426.4_Missense_Mutation_p.E435K	p.E441K	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)		12	1808	-			516					A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.1321G>A	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	C	37	6.170522	0.97343	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.71036	2.16	0.80722	D	1	D;D	0.71674	0.99;0.998	P;P	0.62649	0.781;0.905	D	0.90471	0.4453	10	0.87932	D	0	-21.9579	20.422	0.99049	0.0:1.0:0.0:0.0	.	516;441	O95793;Q5JW29	STAU1_HUMAN;.	K	441;435;516;435;435;435;441;433	ENSP00000360893:E441K;ENSP00000345425:E435K;ENSP00000360922:E516K;ENSP00000353604:E435K;ENSP00000323443:E435K;ENSP00000360867:E441K;ENSP00000360857:E433K	ENSP00000345425:E435K	E	-	1	0	STAU1	47167156	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.832000	0.97577	0.655000	0.94253	GAA		0.483	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		39	56	0	0	0	1	0	39	56					T	47733749	C	T	47733749	3	4	48	1	0	0	0	0	1	0	0	0	15287	893	31	1	199	1	STAU1	20	47733749	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	84188	47733749	15291771	4232	8700										
KCNB1	3745	broad.mit.edu	37	chr20	47990349	47990349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatcaatgcttgacatacttCgcatgtcaatgaccccttct	5	12	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:47990349C>T	ENST00000371741.4	-	2	1914	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	583					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TGACATACTTCGCATGTCAAT	0.522																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(1747-1749)cGa>cAa		potassium voltage-gated channel, Shab-related subfamily, member 1							77	67	70					20																	47990349		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47990349C>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1748G>A	20.37:g.47990349C>T	ENSP00000360806:p.Arg583Gln		Somatic					p.R583Q	NM_004975.2	NP_004966.1	WXS	Illumina GAIIx	Phase_I	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1914	-			583					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.1748G>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118046	0.77323	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	T	0.29917	1.55	6.07	6.07	0.98685	.	0.796712	0.11522	N	0.555635	T	0.54303	0.1850	M	0.66939	2.045	0.44469	D	0.997407	D	0.61697	0.99	P	0.57152	0.814	T	0.51212	-0.8734	10	0.72032	D	0.01	.	20.2543	0.98414	0.0:1.0:0.0:0.0	.	583	Q14721	KCNB1_HUMAN	Q	583;538	ENSP00000360806:R583Q	ENSP00000360806:R583Q	R	-	2	0	KCNB1	47423756	0.996000	0.38824	0.983000	0.44433	0.966000	0.64601	3.210000	0.51129	2.884000	0.98904	0.655000	0.94253	CGA		0.522	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		33	47	0	0	0	1	0	33	47					T	47990349	C	T	47990349	3	4	48	1	0	0	0	0	1	0	0	0	8021	884	31	1	832	1	KCNB1	20	47990349	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	256600	47990349	15035171	4233	8701										
KCNG1	3755	broad.mit.edu	37	chr20	49621311	49621311	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acgcacaccgactccacgatGaagacgttgtggcacatctg	10	13	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:49621311G>T	ENST00000371571.4	-	3	1092	c.807C>A	c.(805-807)ttC>ttA	p.F269L	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	269					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACTCCACGATGAAGACGTTGT	0.657																																						ENST00000371571.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(805-807)ttC>ttA		potassium voltage-gated channel, subfamily G, member 1							16	15	15					20																	49621311		2198	4293	6491	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49621311G>T	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.807C>A	20.37:g.49621311G>T	ENSP00000360626:p.Phe269Leu		Somatic				RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA	p.F269L	NM_002237.3	NP_002228.2	WXS	Illumina GAIIx	Phase_I	Q9UIX4	KCNG1_HUMAN			3	1092	-			269					A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.807C>A	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462373	0.63513	.	.	ENSG00000026559	ENST00000371571	D	0.97328	-4.34	5.0	4.05	0.47172	.	0.000000	0.85682	D	0.000000	D	0.96131	0.8739	M	0.81802	2.56	0.80722	D	1	P	0.35793	0.521	B	0.35278	0.199	D	0.95049	0.8185	9	.	.	.	.	13.9539	0.64135	0.0747:0.0:0.9253:0.0	.	269	Q9UIX4	KCNG1_HUMAN	L	269	ENSP00000360626:F269L	.	F	-	3	2	KCNG1	49054718	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.976000	0.88070	1.231000	0.43661	0.313000	0.20887	TTC		0.657	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		9	14	1	0	2.17888e-05	1	2.39107e-05	9	14					T	49621311	G	T	49621311	3	4	48	1	0	0	0	0	1	0	0	0	8036	1281	45	2	738	2	KCNG1	20	49621311	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1630962	49621311	13404209	4234	8702										
NFATC2	4773	broad.mit.edu	37	chr20	50092097	50092097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgacagttttccccgtgattCggtgcacctggtagaaggcg	13	10	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:50092097C>T	ENST00000396009.3	-	4	1652	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	NFATC2_ENST00000609943.1_Missense_Mutation_p.R458Q|NFATC2_ENST00000414705.1_Missense_Mutation_p.R458Q|NFATC2_ENST00000609507.1_Missense_Mutation_p.R259Q|NFATC2_ENST00000371564.3_Missense_Mutation_p.R478Q|NFATC2_ENST00000610033.1_Missense_Mutation_p.R259Q	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	478	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				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)					CCCCGTGATTCGGTGCACCTG	0.522																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(1432-1434)cGa>cAa		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							210	198	202					20																	50092097		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50092097C>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.1433G>A	20.37:g.50092097C>T	ENSP00000379330:p.Arg478Gln		Somatic				NFATC2_ENST00000396009.3_Missense_Mutation_p.R478Q|NFATC2_ENST00000414705.1_Missense_Mutation_p.R458Q	p.R478Q	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	WXS	Illumina GAIIx	Phase_I	Q13469	NFAC2_HUMAN			4	1652	-	Hepatocellular(150;0.248)		478			RHD.		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.1433G>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264770	0.95399	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.47177	0.85;0.85;0.85	5.26	5.26	0.73747	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.74366	0.3707	M	0.87180	2.865	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;0.99;0.999;0.999	T	0.79633	-0.1722	10	0.87932	D	0	-21.9019	18.8809	0.92356	0.0:1.0:0.0:0.0	.	458;458;478;478	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	Q	478;478;259;458	ENSP00000360619:R478Q;ENSP00000379330:R478Q;ENSP00000396471:R458Q	ENSP00000360619:R478Q	R	-	2	0	NFATC2	49525504	1.000000	0.71417	0.994000	0.49952	0.728000	0.41692	7.711000	0.84669	2.448000	0.82819	0.650000	0.86243	CGA		0.522	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		45	78	0	0	0	1	0	45	78					T	50092097	C	T	50092097	3	4	48	1	0	0	0	0	1	0	0	0	10371	884	31	1	1420	1	NFATC2	20	50092097	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	470786	50092097	12933423	4235	8703										
DOK5	55816	broad.mit.edu	37	chr20	53171574	53171574	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgcatatttcaggtgttatCataaggtaagactcaattgc	8	7	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:53171574C>A	ENST00000262593.5	+	2	519	c.169C>A	c.(169-171)Cat>Aat	p.H57N	DOK5_ENST00000395939.1_5'UTR	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	57	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CAGGTGTTATCATAAGGTAAG	0.373																																						ENST00000262593.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19						c.(169-171)Cat>Aat		docking protein 5							90	90	90					20																	53171574		2203	4300	6503	SO:0001583	missense	55816						insulin receptor binding	g.chr20:53171574C>A	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"Pleckstrin homology (PH) domain containing"	16173	protein-coding gene	gene with protein product		608334	"chromosome 20 open reading frame 180"	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.169C>A	20.37:g.53171574C>A	ENSP00000262593:p.His57Asn		Somatic				DOK5_ENST00000395939.1_5'UTR	p.H57N	NM_018431.3	NP_060901.2	WXS	Illumina GAIIx	Phase_I	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		2	519	+			57			PH.		Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	37	c.169C>A	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069782	0.76301	.	.	ENSG00000101134	ENST00000262593	T	0.71698	-0.59	5.77	5.77	0.91146	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.80059	0.4554	L	0.48642	1.525	0.80722	D	1	P	0.49559	0.925	D	0.65140	0.932	T	0.78011	-0.2371	10	0.44086	T	0.13	2.3779	18.5509	0.91065	0.0:1.0:0.0:0.0	.	57	Q9P104	DOK5_HUMAN	N	57	ENSP00000262593:H57N	ENSP00000262593:H57N	H	+	1	0	DOK5	52604981	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.385000	0.73182	2.722000	0.93159	0.643000	0.83706	CAT		0.373	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			11	14	1	0	7.93312e-07	1	8.98086e-07	11	14					A	53171574	C	A	53171574	3	1	48	1	0	0	0	0	1	0	0	0	4702	826	29	2	175	2	DOK5	20	53171574	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3079477	53171574	9853946	4236	8704										
AURKA	6790	broad.mit.edu	37	chr20	54948493	54948493	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagcatgtactgaccacccAaaatctgcaattttaagctc	7	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:54948493A>G	ENST00000347343.2	-	7	1092	c.825T>C	c.(823-825)ttT>ttC	p.F275F	AURKA_ENST00000395915.3_Silent_p.F275F|AURKA_ENST00000395911.1_Silent_p.F275F|AURKA_ENST00000395913.3_Silent_p.F275F|AURKA_ENST00000371356.2_Silent_p.F275F|AURKA_ENST00000395909.4_Silent_p.F275F|AURKA_ENST00000395914.1_Silent_p.F275F|AURKA_ENST00000312783.6_Silent_p.F275F|AURKA_ENST00000395907.1_Silent_p.F275F	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			CTGACCACCCAAAATCTGCAA	0.423																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)	ENST00000395909.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22						c.(823-825)ttT>ttC		aurora kinase A							116	103	107					20																	54948493		2203	4300	6503	SO:0001819	synonymous_variant	6790				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	g.chr20:54948493A>G	BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	11393	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 47", "Aurora-A kinase"	603072	"serine/threonine kinase 15", " serine/threonine kinase 6"	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.825T>C	20.37:g.54948493A>G			Somatic				AURKA_ENST00000395915.3_Silent_p.F275F|AURKA_ENST00000395914.1_Silent_p.F275F|AURKA_ENST00000312783.6_Silent_p.F275F|AURKA_ENST00000395913.3_Silent_p.F275F|AURKA_ENST00000395907.1_Silent_p.F275F|AURKA_ENST00000347343.2_Silent_p.F275F|AURKA_ENST00000395911.1_Silent_p.F275F|AURKA_ENST00000371356.2_Silent_p.F275F	p.F275F	NM_198433.1	NP_940835.1	WXS	Illumina GAIIx	Phase_I	O14965	AURKA_HUMAN	Colorectal(105;0.202)		9	1390	-			275			Protein kinase.		E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Silent	SNP	ENST00000347343.2	37	c.825T>C	CCDS13451.1																																																																																				0.423	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079804.3	NM_003600		32	46	0	0	0	1	0	32	46					G	54948493	A	G	54948493	2	3	48	1	0	0	0	0	0	0	0	1	1221	127	5	4		4	AURKA	20	54948493	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1776919	54948493	8077027	4237	8705										
C20orf106	200232	broad.mit.edu	37	chr20	55100881	55100881	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcagagtcctcctggccttCgaggcggccaacttcactct	10	15	2	1	rs368902169		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:55100881C>T	ENST00000371328.3	+	2	594	c.271C>T	c.(271-273)Cga>Tga	p.R91*	FAM209A_ENST00000481560.1_3'UTR|GCNT7_ENST00000243913.4_5'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	91						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TCCTGGCCTTCGAGGCGGCCA	0.438													C|||	1	0.000199681	0	0	5008	,	,		21663	0		0	False		,,,				2504	0.001					ENST00000371328.3																			0											c.(271-273)Cga>Tga		family with sequence similarity 209, member A		C	stop/ARG,	0,4406		0,0,2203	131	138	136		271,	2.7	0	20		136	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,utr-5	GCNT7,C20orf106	NM_001012971.3,NM_080615.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	91/172,	55100881	1,13005	2203	4300	6503	SO:0001587	stop_gained	200232							g.chr20:55100881C>T	AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 106"	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.271C>T	20.37:g.55100881C>T	ENSP00000360379:p.Arg91*		Somatic				GCNT7_ENST00000243913.4_5'UTR|FAM209A_ENST00000481560.1_3'UTR	p.R91*	NM_001012971.3	NP_001012989.2	WXS	Illumina GAIIx	Phase_I					2	594	+								Q05C43	Nonsense_Mutation	SNP	ENST00000371328.3	37	c.271C>T	CCDS33493.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713820	0.89112	0.0	1.16E-4	ENSG00000124103	ENST00000371328	.	.	.	3.7	2.67	0.31697	.	0.682160	0.12082	N	0.501260	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8967	9.5912	0.39548	0.0:0.7846:0.2154:0.0	.	.	.	.	X	91	.	ENSP00000360379:R91X	R	+	1	2	C20orf106	54534288	0.167000	0.22975	0.005000	0.12908	0.029000	0.11900	1.117000	0.31234	1.796000	0.52611	0.411000	0.27672	CGA		0.438	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			49	119	0	0	0	1	0	49	119					T	55100881	C	T	55100881	4	4	48	1	0	0	0	0	0	1	0	0	2078	876	31	1	277	1	C20orf106	20	55100881	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	152388	55100881	7924639	4238	8706										
CTCFL	140690	broad.mit.edu	37	chr20	56093849	56093850	+	Frame_Shift_Ins	INS	-	-	T													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgcacatggaacatttaaaINSgggtttctcatgagtatgtt					rs555474647		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:56093849_56093850insT	ENST00000608263.1	-	4	1684_1685	c.1023_1024insA	c.(1021-1026)ccctttfs	p.F342fs	CTCFL_ENST00000539382.1_Frame_Shift_Ins_p.F137fs|CTCFL_ENST00000608158.1_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000432255.2_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000608425.1_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000422869.2_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000609232.1_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000433949.3_Frame_Shift_Ins_p.F137fs|CTCFL_ENST00000243914.3_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000371196.2_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000502686.2_Frame_Shift_Ins_p.F80fs|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000423479.3_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000429804.3_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000608903.1_Frame_Shift_Ins_p.F80fs|CTCFL_ENST00000608440.1_Frame_Shift_Ins_p.F342fs|CTCFL_ENST00000481655.2_Frame_Shift_Ins_p.F342fs	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	342					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)			GAACATTTAAAGGGTTTCTCAT	0.47																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1021-1026)ccttaafs		CCCTC-binding factor (zinc finger protein)-like																																				SO:0001589	frameshift_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.chr20:56093849_56093850insT		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.1023_1024insA	20.37:g.56093849_56093850insT	ENSP00000476783:p.Phe342fs		Somatic				CTCFL_ENST00000539382.1_Frame_Shift_Ins_p.*137fs|CTCFL_ENST00000422869.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000429804.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000433949.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000502686.2_Frame_Shift_Ins_p.*80fs|CTCFL_ENST00000422109.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000371196.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000432255.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000243914.3_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000423479.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000481655.1_5'UTR	p.*342fs			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)		4	1684_1685	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		342					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Ins	INS	ENST00000608263.1	37	c.1023_1024insA	CCDS13459.1																																																																																				0.47	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		39	98						39	98	---	---	---	---	T	56093850	-	T	56093849	7	5	48	1	0	1	1	0	0	0	0	0	4003	72	3	0	995	0	CTCFL	20	56093849	Frame_Shift_Ins	INS	-	TCGA-ND-A4WC-01A-21D-A28R-08	992968	56093849	6931671	4239	8707										
PCK1	5105	broad.mit.edu	37	chr20	56137841	56137841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agctgacggattcaccctacGtggtggccagcatgcggatc	13	12	1	1	rs368269624		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:56137841G>A	ENST00000319441.4	+	4	660	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	PCK1_ENST00000535860.1_Missense_Mutation_p.V34M|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	166					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TTCACCCTACGTGGTGGCCAG	0.617																																						ENST00000319441.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(496-498)Gtg>Atg		phosphoenolpyruvate carboxykinase 1 (soluble)		G	MET/VAL	0,4406		0,0,2203	72	61	65		496	5.1	1	20		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCK1	NM_002591.3	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	166/623	56137841	1,13005	2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56137841G>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.496G>A	20.37:g.56137841G>A	ENSP00000319814:p.Val166Met		Somatic				PCK1_ENST00000535860.1_Missense_Mutation_p.V34M|PCK1_ENST00000543666.1_Intron	p.V166M	NM_002591.3	NP_002582.3	WXS	Illumina GAIIx	Phase_I	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		4	660	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		166					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.496G>A	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524913	0.85600	0.0	1.16E-4	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.10860	2.83;2.83	5.13	5.13	0.70059	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.53110	0.1776	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73953	-0.3820	10	0.87932	D	0	-43.4513	18.9476	0.92627	0.0:0.0:1.0:0.0	.	166	P35558	PCKGC_HUMAN	M	166;34	ENSP00000319814:V166M;ENSP00000444342:V34M	ENSP00000319814:V166M	V	+	1	0	PCK1	55571247	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	9.015000	0.93640	2.543000	0.85770	0.655000	0.94253	GTG		0.617	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			13	44	0	0	0	1	0	13	44					A	56137841	G	A	56137841	3	1	48	1	0	0	0	0	1	0	0	0	11590	1145	40	1	506	1	PCK1	20	56137841	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	43992	56137841	6887679	4240	8708										
RAB22A	57403	broad.mit.edu	37	chr20	56929309	56929309	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgataaacataaatgaactcTttatagaaattagtgagtat	6	4	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:56929309T>G	ENST00000244040.3	+	6	756	c.475T>G	c.(475-477)Ttt>Gtt	p.F159V		NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	159					endocytosis (GO:0006897)|endosome organization (GO:0007032)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			AAATGAACTCTTTATAGAAAT	0.393																																						ENST00000244040.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6						c.(475-477)Ttt>Gtt		RAB22A, member RAS oncogene family							75	78	77					20																	56929309		2203	4300	6503	SO:0001583	missense	57403				endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr20:56929309T>G	AF091034	CCDS33497.1	20q13	2008-07-03			ENSG00000124209	ENSG00000124209		"RAB, member RAS oncogene"	9764	protein-coding gene	gene with protein product		612966					Standard	NM_020673		Approved		uc002xyz.3	Q9UL26	OTTHUMG00000032844	ENST00000244040.3:c.475T>G	20.37:g.56929309T>G	ENSP00000244040:p.Phe159Val		Somatic					p.F159V	NM_020673.2	NP_065724.1	WXS	Illumina GAIIx	Phase_I	Q9UL26	RB22A_HUMAN	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)		6	756	+	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		159					B3KR86|E1P605|Q8TF12|Q9H4E6	Missense_Mutation	SNP	ENST00000244040.3	37	c.475T>G	CCDS33497.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589238	0.86851	.	.	ENSG00000124209	ENST00000244040	D	0.83419	-1.72	5.47	5.47	0.80525	Small GTP-binding protein domain (1);	0.047118	0.85682	D	0.000000	D	0.92906	0.7743	M	0.92077	3.27	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.94550	0.7753	10	0.87932	D	0	-13.07	15.5395	0.76031	0.0:0.0:0.0:1.0	.	159	Q9UL26	RB22A_HUMAN	V	159	ENSP00000244040:F159V	ENSP00000244040:F159V	F	+	1	0	RAB22A	56362715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.621000	0.83083	2.089000	0.63090	0.533000	0.62120	TTT		0.393	RAB22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079880.2			10	16	0	0	0	1	0	10	16					G	56929309	T	G	56929309	3	3	48	1	0	0	0	0	1	0	0	0	12924	1609	56	4	497	4	RAB22A	20	56929309	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	791468	56929309	6096211	4241	8709										
GNAS	2778	broad.mit.edu	37	chr20	57428651	57428651	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgaggctgaacagcccagcTtgggaggcttctggcctaca	13	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:57428651T>G	ENST00000371100.4	+	1	883	c.331T>G	c.(331-333)Ttg>Gtg	p.L111V	GNAS_ENST00000313949.7_Intron|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Intron|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000306120.3_Silent_p.A47A|GNAS_ENST00000371099.2_Missense_Mutation_p.L111V|GNAS_ENST00000371102.4_Missense_Mutation_p.L111V|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACAGCCCAGCTTGGGAGGCTT	0.622			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(331-333)Ttg>Gtg		GNAS complex locus							32	36	35					20																	57428651		1940	4123	6063	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57428651T>G	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.331T>G	20.37:g.57428651T>G	ENSP00000360141:p.Leu111Val	TSP Lung(22;0.16)	Somatic				GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.L111V|GNAS_ENST00000371099.2_Missense_Mutation_p.L111V|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Silent_p.A47A|GNAS_ENST00000464624.2_3'UTR	p.L111V	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	WXS	Illumina GAIIx	Phase_I	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	883	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.331T>G	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	T	11.33	1.606431	0.28623	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.89746	-2.56;-2.55	4.47	-8.94	0.00768	.	.	.	.	.	T	0.75421	0.3847	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.62077	-0.6930	9	0.09590	T	0.72	.	1.9809	0.03426	0.2112:0.247:0.3903:0.1515	.	111	Q5JWF2	GNAS1_HUMAN	V	111	ENSP00000360141:L111V;ENSP00000360143:L111V	ENSP00000360140:L111V	L	+	1	2	GNAS	56862046	0.000000	0.05858	0.006000	0.13384	0.857000	0.48899	-2.164000	0.01275	-1.788000	0.01266	0.455000	0.32223	TTG		0.622	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		13	33	0	0	0	1	0	13	33					G	57428651	T	G	57428651	3	3	48	1	0	0	0	0	1	0	0	0	6518	1606	56	4	1075	4	GNAS	20	57428651	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	499342	57428651	5596869	4242	8710										
SYCP2	10388	broad.mit.edu	37	chr20	58489048	58489048	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accttcttttgtctccaagcAtgccatttacaaggttgaga	7	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:58489048A>G	ENST00000357552.3	-	12	1037	c.812T>C	c.(811-813)aTg>aCg	p.M271T	SYCP2_ENST00000371001.2_Missense_Mutation_p.M271T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	271					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)			GTCTCCAAGCATGCCATTTAC	0.299																																						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.(811-813)aTg>aCg		synaptonemal complex protein 2							65	63	64					20																	58489048		2201	4298	6499	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58489048A>G	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.812T>C	20.37:g.58489048A>G	ENSP00000350162:p.Met271Thr		Somatic				SYCP2_ENST00000371001.2_Missense_Mutation_p.M271T	p.M271T			WXS	Illumina GAIIx	Phase_I	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		12	1037	-	all_lung(29;0.00344)		271					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.812T>C	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.108066	0.37242	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.04809	3.55;3.55;3.55	4.91	3.73	0.42828	.	0.164522	0.43416	D	0.000569	T	0.06917	0.0176	L	0.51422	1.61	0.33878	D	0.635741	B;B	0.34329	0.096;0.449	B;B	0.38106	0.054;0.265	T	0.13845	-1.0494	10	0.41790	T	0.15	-6.4532	10.7699	0.46316	0.858:0.0:0.0:0.1419	.	271;271	A2A341;Q9BX26	.;SYCP2_HUMAN	T	271	ENSP00000360040:M271T;ENSP00000350162:M271T;ENSP00000402456:M271T	ENSP00000350162:M271T	M	-	2	0	SYCP2	57922443	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.175000	0.77632	1.968000	0.57251	0.533000	0.62120	ATG		0.299	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		3	10	0	0	0	1	0	3	10					G	58489048	A	G	58489048	3	3	48	1	0	0	0	0	1	0	0	0	15447	217	8	4	3916	4	SYCP2	20	58489048	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1060397	58489048	4536472	4243	8711										
C20orf177	63939	broad.mit.edu	37	chr20	58519545	58519545	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacttcttgggaagtatatcGatagacttattcagcttgag	10	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:58519545G>T	ENST00000358293.3	+	5	962	c.547G>T	c.(547-549)Gat>Tat	p.D183Y	FAM217B_ENST00000360816.3_Missense_Mutation_p.D183Y|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	183																	GAAGTATATCGATAGACTTAT	0.547																																						ENST00000358293.3																			0											c.(547-549)Gat>Tat		family with sequence similarity 217, member B							47	49	48					20																	58519545		2203	4300	6503	SO:0001583	missense	63939							g.chr20:58519545G>T	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.547G>T	20.37:g.58519545G>T	ENSP00000351040:p.Asp183Tyr		Somatic				FAM217B_ENST00000360816.3_Missense_Mutation_p.D183Y|FAM217B_ENST00000469084.1_3'UTR	p.D183Y	NM_001190826.1	NP_001177755.1	WXS	Illumina GAIIx	Phase_I	Q9NTX9	CT177_HUMAN			5	962	+			183					B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	c.547G>T	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149180	0.78001	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.26067	1.76;1.76	5.8	5.8	0.92144	.	0.070700	0.53938	D	0.000045	T	0.51058	0.1652	L	0.59436	1.845	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.46555	-0.9183	10	0.72032	D	0.01	-28.3378	20.063	0.97692	0.0:0.0:1.0:0.0	.	183	Q9NTX9	CT177_HUMAN	Y	183	ENSP00000351040:D183Y;ENSP00000354056:D183Y	ENSP00000351040:D183Y	D	+	1	0	C20orf177	57952940	1.000000	0.71417	0.103000	0.21229	0.430000	0.31655	5.120000	0.64685	2.735000	0.93741	0.655000	0.94253	GAT		0.547	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		24	43	1	0	3.5997e-14	1	4.67138e-14	24	43					T	58519545	G	T	58519545	3	4	48	1	0	0	0	0	1	0	0	0	2098	1058	37	2	549	2	C20orf177	20	58519545	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	30497	58519545	4505975	4244	8712										
CDH26	60437	broad.mit.edu	37	chr20	58567518	58567518	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgtggagccaattgaccgaGaatcccctcatgtaaataac	8	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:58567518G>T	ENST00000244047.5	+	10	1680	c.1369G>T	c.(1369-1371)Gaa>Taa	p.E457*	CDH26_ENST00000348616.4_Nonsense_Mutation_p.E457*			Q8IXH8	CAD26_HUMAN	cadherin 26	457	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AATTGACCGAGAATCCCCTCA	0.403																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1369-1371)Gaa>Taa		cadherin 26							131	117	122					20																	58567518		2203	4300	6503	SO:0001587	stop_gained	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58567518G>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1369G>T	20.37:g.58567518G>T	ENSP00000244047:p.Glu457*		Somatic				CDH26_ENST00000244047.5_Nonsense_Mutation_p.E457*	p.E457*	NM_177980.2	NP_817089.1	WXS	Illumina GAIIx	Phase_I	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		10	1669	+	all_lung(29;0.00963)		457			Cadherin 4.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Nonsense_Mutation	SNP	ENST00000244047.5	37	c.1369G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.567832|4.567832	0.86439|0.86439	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000370991|ENST00000244047;ENST00000348616	.|.	.|.	.|.	5.15|5.15	4.2|4.2	0.49525|0.49525	.|.	0.065388|0.065388	0.64402|0.64402	D|D	0.000020|0.000020	T|.	0.68339|.	0.2990|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.78638|.	-0.2126|.	4|.	.|0.87932	.|D	.|0	.|.	12.7247|12.7247	0.57164|0.57164	0.0819:0.0:0.9181:0.0|0.0819:0.0:0.9181:0.0	.|.	.|.	.|.	.|.	D|X	48|457	.|.	.|ENSP00000244047:E457X	E|E	+|+	3|1	2|0	CDH26|CDH26	58000913|58000913	1.000000|1.000000	0.71417|0.71417	0.002000|0.002000	0.10522|0.10522	0.243000|0.243000	0.25628|0.25628	4.343000|4.343000	0.59348|0.59348	1.143000|1.143000	0.42306|0.42306	0.650000|0.650000	0.86243|0.86243	GAG|GAA		0.403	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		4	35	1	0	0.00024832	1	0.000265255	4	35					T	58567518	G	T	58567518	4	4	48	1	0	0	0	0	0	1	0	0	3112	943	33	2	1407	2	CDH26	20	58567518	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	47973	58567518	4458002	4245	8713										
PSMA7	5688	broad.mit.edu	37	chr20	60713283	60713283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcatctgtttcaatggcttCgtcagtatagttcttctcca	6	10	6	0	rs12041		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:60713283C>T	ENST00000370873.4	-	5	661	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370861.1_Missense_Mutation_p.E109K	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	179					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	identical protein binding (GO:0042802)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TCAATGGCTTCGTCAGTATAG	0.493																																						ENST00000370873.4																			0				large_intestine(1)|lung(2)	3						c.(535-537)Gaa>Aaa		proteasome (prosome, macropain) subunit, alpha type, 7							206	133	158					20																	60713283		2203	4300	6503	SO:0001583	missense	5688				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity	g.chr20:60713283C>T	AF022815	CCDS13489.1	20q13.33	2008-07-02			ENSG00000101182	ENSG00000101182		"Proteasome (prosome, macropain) subunits"	9536	protein-coding gene	gene with protein product	"proteasome subunit XAPC7", "proteasome subunit RC6-1"	606607				8764072	Standard	NM_002792		Approved	XAPC7, C6, HSPC, RC6-1	uc002ybx.2	O14818	OTTHUMG00000032895	ENST00000370873.4:c.535G>A	20.37:g.60713283C>T	ENSP00000359910:p.Glu179Lys		Somatic				PSMA7_ENST00000370861.1_Missense_Mutation_p.E109K|PSMA7_ENST00000484488.1_5'UTR	p.E179K	NM_002792.3	NP_002783.1	WXS	Illumina GAIIx	Phase_I	O14818	PSA7_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		5	661	-	Breast(26;3.97e-09)		179					B2R515|Q5JXJ2|Q9BR53|Q9H4K5|Q9UEU8	Missense_Mutation	SNP	ENST00000370873.4	37	c.535G>A	CCDS13489.1	.	.	.	.	.	.	.	.	.	.	.	15.97	2.989605	0.53934	.	.	ENSG00000101182	ENST00000370873;ENST00000370861	T;T	0.23950	1.88;1.88	5.12	4.18	0.49190	.	0.182422	0.64402	N	0.000017	T	0.30634	0.0771	M	0.72576	2.205	0.80722	D	1	B	0.25351	0.124	B	0.24394	0.053	T	0.13602	-1.0503	10	0.62326	D	0.03	.	13.631	0.62196	0.0:0.925:0.0:0.075	rs12041;rs11552071;rs12041	179	O14818	PSA7_HUMAN	K	179;109	ENSP00000359910:E179K;ENSP00000359898:E109K	ENSP00000359898:E109K	E	-	1	0	PSMA7	60146678	1.000000	0.71417	0.381000	0.26106	0.672000	0.39443	7.479000	0.81095	1.177000	0.42855	0.563000	0.77884	GAA		0.493	PSMA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079975.1	NM_002792		25	29	0	0	0	1	0	25	29					T	60713283	C	T	60713283	3	4	48	1	0	0	0	0	1	0	0	0	12684	893	31	1	223	1	PSMA7	20	60713283	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2145765	60713283	2312237	4246	8714										
ADRM1	11047	broad.mit.edu	37	chr20	60883729	60883729	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agatgtggaagcgtttgccaAagccatgcagaacaacgcca	11	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:60883729A>C	ENST00000253003.2	+	10	1182	c.1136A>C	c.(1135-1137)aAa>aCa	p.K379T	RP11-157P1.4_ENST00000414042.1_RNA|LAMA5_ENST00000492698.1_Intron	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	379	Interaction with UCHL5.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			GCGTTTGCCAAAGCCATGCAG	0.552																																						ENST00000253003.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5						c.(1135-1137)aAa>aCa		adhesion regulating molecule 1							155	114	128					20																	60883729		2192	4295	6487	SO:0001583	missense	11047				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding	g.chr20:60883729A>C	D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.1136A>C	20.37:g.60883729A>C	ENSP00000253003:p.Lys379Thr		Somatic				LAMA5_ENST00000492698.1_Intron	p.K379T	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	WXS	Illumina GAIIx	Phase_I	Q16186	ADRM1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.51e-06)		10	1182	+	Breast(26;7.76e-09)		379			Interaction with UCHL5.		A0PKB1|Q96FJ7|Q9H1P2	Missense_Mutation	SNP	ENST00000253003.2	37	c.1136A>C	CCDS13496.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057720	0.76074	.	.	ENSG00000130706	ENST00000253003	.	.	.	5.92	4.82	0.62117	.	0.041945	0.85682	N	0.000000	T	0.67297	0.2878	L	0.51853	1.615	0.80722	D	1	B	0.27679	0.185	B	0.44108	0.441	T	0.66452	-0.5920	9	0.52906	T	0.07	-6.8217	13.1247	0.59346	0.8663:0.1336:0.0:0.0	.	379	Q16186	ADRM1_HUMAN	T	379	.	ENSP00000253003:K379T	K	+	2	0	ADRM1	60317124	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.610000	0.61155	1.049000	0.40321	0.459000	0.35465	AAA		0.552	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080007.1			14	28	0	0	0	1	0	14	28					C	60883729	A	C	60883729	3	2	48	1	0	0	0	0	1	0	0	0	345	14	1	4	1170	4	ADRM1	20	60883729	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	170446	60883729	2141791	4247	8715										
NTSR1	4923	broad.mit.edu	37	chr20	61341007	61341007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctactacttcctgcgcgacGcctgcacctacgccacggcc	9	19	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:61341007G>A	ENST00000370501.3	+	1	819	c.448G>A	c.(448-450)Gcc>Acc	p.A150T		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	150					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CCTGCGCGACGCCTGCACCTA	0.667																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(448-450)Gcc>Acc		neurotensin receptor 1 (high affinity)							55	52	53					20																	61341007		2202	4299	6501	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61341007G>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.448G>A	20.37:g.61341007G>A	ENSP00000359532:p.Ala150Thr		Somatic					p.A150T	NM_002531.2	NP_002522.2	WXS	Illumina GAIIx	Phase_I	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		1	819	+	Breast(26;3.65e-08)		150					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.448G>A	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	G	8.867	0.948405	0.18356	.	.	ENSG00000101188	ENST00000370501	T	0.71698	-0.59	5.15	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.183779	0.49305	D	0.000143	T	0.49253	0.1546	N	0.04768	-0.165	0.32601	N	0.525895	D	0.55172	0.97	P	0.46208	0.507	T	0.55471	-0.8136	10	0.17832	T	0.49	-45.7873	8.8543	0.35219	0.08:0.1519:0.7681:0.0	.	150	P30989	NTR1_HUMAN	T	150	ENSP00000359532:A150T	ENSP00000359532:A150T	A	+	1	0	NTSR1	60811452	1.000000	0.71417	0.911000	0.35937	0.990000	0.78478	3.877000	0.56123	1.136000	0.42199	0.561000	0.74099	GCC		0.667	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			36	75	0	0	0	1	0	36	75					A	61341007	G	A	61341007	3	1	48	1	0	0	0	0	1	0	0	0	10719	1087	38	1	450	1	NTSR1	20	61341007	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	457278	61341007	1684513	4248	8716										
NTSR1	4923	broad.mit.edu	37	chr20	61341123	61341123	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgaagccgcaccaagaagttCatcagcgccatctggctcgc	10	15	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:61341123C>A	ENST00000370501.3	+	1	935	c.564C>A	c.(562-564)ttC>ttA	p.F188L		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	188					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CCAAGAAGTTCATCAGCGCCA	0.677																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(562-564)ttC>ttA		neurotensin receptor 1 (high affinity)							83	68	73					20																	61341123		2203	4300	6503	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61341123C>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.564C>A	20.37:g.61341123C>A	ENSP00000359532:p.Phe188Leu		Somatic					p.F188L	NM_002531.2	NP_002522.2	WXS	Illumina GAIIx	Phase_I	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		1	935	+	Breast(26;3.65e-08)		188					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.564C>A	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	C	7.345	0.621682	0.14193	.	.	ENSG00000101188	ENST00000370501	T	0.30981	1.51	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.129479	0.53938	N	0.000055	T	0.10680	0.0261	N	0.01015	-1.05	0.39437	D	0.96717	B	0.06786	0.001	B	0.10450	0.005	T	0.23190	-1.0195	10	0.12103	T	0.63	-31.767	13.2407	0.59995	0.1592:0.8408:0.0:0.0	.	188	P30989	NTR1_HUMAN	L	188	ENSP00000359532:F188L	ENSP00000359532:F188L	F	+	3	2	NTSR1	60811568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.377000	0.34317	2.404000	0.81709	0.561000	0.74099	TTC		0.677	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			33	80	1	0	1.30897e-18	1	1.77529e-18	33	80					A	61341123	C	A	61341123	3	1	48	1	0	0	0	0	1	0	0	0	10719	825	29	2	566	2	NTSR1	20	61341123	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	116	61341123	1684397	4249	8717										
DIDO1	11083	broad.mit.edu	37	chr20	61527689	61527689	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catctccttctcaatatggaGggcaatttttcctacttcgt	6	11	2	0	rs368023217		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:61527689G>T	ENST00000266070.4	-	8	2435	c.2110C>A	c.(2110-2112)Ctc>Atc	p.L704I	DIDO1_ENST00000395335.2_Missense_Mutation_p.L704I|DIDO1_ENST00000395343.1_Missense_Mutation_p.L704I|DIDO1_ENST00000395340.1_Missense_Mutation_p.L704I	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	704	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				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)					TCAATATGGAGGGCAATTTTT	0.353																																					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.(2110-2112)Ctc>Atc		death inducer-obliterator 1							121	110	114					20																	61527689		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61527689G>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.2110C>A	20.37:g.61527689G>T	ENSP00000266070:p.Leu704Ile		Somatic				DIDO1_ENST00000395335.2_Missense_Mutation_p.L704I|DIDO1_ENST00000395340.1_Missense_Mutation_p.L704I|DIDO1_ENST00000395343.1_Missense_Mutation_p.L704I	p.L704I	NM_033081.2	NP_149072.2	WXS	Illumina GAIIx	Phase_I	Q9BTC0	DIDO1_HUMAN			8	2435	-	Breast(26;5.68e-08)		704			TFIIS central.		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.2110C>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103880	0.56291	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.76	3.83	0.44106	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.000000	0.37483	N	0.002079	T	0.26810	0.0656	N	0.12887	0.27	0.09310	N	0.999997	P;P	0.49185	0.617;0.92	B;P	0.45712	0.242;0.491	T	0.05533	-1.0879	10	0.44086	T	0.13	-36.7066	7.4459	0.27211	0.1374:0.0:0.7284:0.1343	.	704;704	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	I	704	ENSP00000266070:L704I;ENSP00000378752:L704I;ENSP00000378749:L704I;ENSP00000378744:L704I	ENSP00000266070:L704I	L	-	1	0	DIDO1	60998134	0.838000	0.29461	0.968000	0.41197	0.891000	0.51852	1.624000	0.37018	0.792000	0.33850	0.655000	0.94253	CTC		0.353	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		20	34	1	0	1.56452e-12	1	1.97515e-12	20	34					T	61527689	G	T	61527689	3	4	48	1	0	0	0	0	1	0	0	0	4524	1000	35	5	4677	5	DIDO1	20	61527689	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	186566	61527689	1497831	4250	8718										
C20orf195	79025	broad.mit.edu	37	chr20	62187143	62187143	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggcgtggaagacctacaccGagcgccgcaatgccctgcgt	13	14	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:62187143G>T	ENST00000370098.3	+	2	219	c.127G>T	c.(127-129)Gag>Tag	p.E43*	C20orf195_ENST00000370097.1_Nonsense_Mutation_p.E43*	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	43						extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	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)			GACCTACACCGAGCGCCGCAA	0.627																																						ENST00000370098.3																			0				large_intestine(3)|lung(4)	7						c.(127-129)Gag>Tag		chromosome 20 open reading frame 195							53	50	51					20																	62187143		2203	4300	6503	SO:0001587	stop_gained	79025							g.chr20:62187143G>T		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.127G>T	20.37:g.62187143G>T	ENSP00000359116:p.Glu43*		Somatic				C20orf195_ENST00000370097.1_Nonsense_Mutation_p.E43*	p.E43*	NM_024059.2	NP_076964.1	WXS	Illumina GAIIx	Phase_I	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		2	219	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		43						Nonsense_Mutation	SNP	ENST00000370098.3	37	c.127G>T	CCDS13526.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178509	0.38511	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.25	4.29	0.51040	.	0.295308	0.23918	N	0.043266	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-8.2777	13.7896	0.63131	0.0:0.1542:0.8458:0.0	.	.	.	.	X	43	.	ENSP00000359115:E43X	E	+	1	0	C20orf195	61657587	0.107000	0.21998	0.023000	0.16930	0.000000	0.00434	2.668000	0.46816	1.182000	0.42928	-0.181000	0.13052	GAG		0.627	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		18	37	1	0	1.02788e-11	1	1.28326e-11	18	37					T	62187143	G	T	62187143	4	4	48	1	0	0	0	0	0	1	0	0	2102	1059	37	2	129	2	C20orf195	20	62187143	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	659454	62187143	838377	4251	8719										
C20orf195	79025	broad.mit.edu	37	chr20	62187416	62187416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggacctgttggaacagctcGaccatggccgtgctgagctg	15	11	0	1	rs143315774	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:62187416G>A	ENST00000370098.3	+	2	492	c.400G>A	c.(400-402)Gac>Aac	p.D134N	C20orf195_ENST00000370097.1_Missense_Mutation_p.D134N	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	134						extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	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)			GGAACAGCTCGACCATGGCCG	0.667																																						ENST00000370098.3																			0				large_intestine(3)|lung(4)	7						c.(400-402)Gac>Aac		chromosome 20 open reading frame 195							56	54	55					20																	62187416		2201	4300	6501	SO:0001583	missense	79025							g.chr20:62187416G>A		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.400G>A	20.37:g.62187416G>A	ENSP00000359116:p.Asp134Asn		Somatic				C20orf195_ENST00000370097.1_Missense_Mutation_p.D134N	p.D134N	NM_024059.2	NP_076964.1	WXS	Illumina GAIIx	Phase_I	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		2	492	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		134						Missense_Mutation	SNP	ENST00000370098.3	37	c.400G>A	CCDS13526.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956458	0.53293	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.47	5.47	0.80525	.	0.226046	0.31370	N	0.007764	T	0.34193	0.0889	L	0.29908	0.895	0.31491	N	0.665933	P	0.46327	0.876	B	0.39738	0.308	T	0.47586	-0.9106	9	0.66056	D	0.02	-29.7679	16.3589	0.83246	0.0:0.1317:0.8682:0.0	.	134	Q9BVV2	CT195_HUMAN	N	134	.	ENSP00000359115:D134N	D	+	1	0	C20orf195	61657860	1.000000	0.71417	0.994000	0.49952	0.084000	0.17831	2.301000	0.43628	2.573000	0.86826	0.655000	0.94253	GAC		0.667	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		17	36	0	0	0	1	0	17	36					A	62187416	G	A	62187416	3	1	48	1	0	0	0	0	1	0	0	0	2102	1058	37	1	402	1	C20orf195	20	62187416	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	273	62187416	838104	4252	8720										
OPRL1	4987	broad.mit.edu	37	chr20	62729974	62729974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggccctgggctacgtcaacaGctgcctcaaccccatcctct	8	18	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:62729974G>A	ENST00000349451.3	+	6	1347	c.935G>A	c.(934-936)aGc>aAc	p.S312N	OPRL1_ENST00000336866.2_Missense_Mutation_p.S312N|OPRL1_ENST00000355631.4_Missense_Mutation_p.S312N	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	312					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)					TACGTCAACAGCTGCCTCAAC	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.(934-936)aGc>aAc		opiate receptor-like 1							98	86	90					20																	62729974		2203	4299	6502	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.chr20:62729974G>A		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.935G>A	20.37:g.62729974G>A	ENSP00000336764:p.Ser312Asn		Somatic				OPRL1_ENST00000355631.4_Missense_Mutation_p.S312N|OPRL1_ENST00000336866.2_Missense_Mutation_p.S312N	p.S312N	NM_001200019.1	NP_001186948.1	WXS	Illumina GAIIx	Phase_I	P41146	OPRX_HUMAN			6	1347	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		312					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.935G>A	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921824	0.92319	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.79554	-1.28;-1.28;-1.28	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.93933	0.8058	H	0.97852	4.09	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.83275	0.991;0.996	D	0.96321	0.9236	10	0.87932	D	0	.	18.4228	0.90597	0.0:0.0:1.0:0.0	.	307;312	P41146-2;P41146	.;OPRX_HUMAN	N	312	ENSP00000336843:S312N;ENSP00000347848:S312N;ENSP00000336764:S312N	ENSP00000336843:S312N	S	+	2	0	OPRL1	62200418	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.610000	0.98337	2.346000	0.79739	0.500000	0.49745	AGC		0.637	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		35	50	0	0	0	1	0	35	50					A	62729974	G	A	62729974	3	1	48	1	0	0	0	0	1	0	0	0	10895	971	34	3	945	3	OPRL1	20	62729974	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	542558	62729974	295546	4253	8721										
TPTE	7179	broad.mit.edu	37	chr21	10906987	10906987	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caaaatctgatggataaattCtccgtgctttttgtttatgt	7	6	2	1	rs376317057	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:10906987C>T	ENST00000361285.4	-	24	1903	c.1574G>A	c.(1573-1575)aGa>aAa	p.R525K	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R487K|TPTE_ENST00000298232.7_Missense_Mutation_p.R507K	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	525	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)			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)		TGGATAAATTCTCCGTGCTTT	0.358																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1519-1521)aGa>aAa		transmembrane phosphatase with tensin homology							124	111	116					21																	10906987		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10906987C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1574G>A	21.37:g.10906987C>T	ENSP00000355208:p.Arg525Lys		Somatic				TPTE_ENST00000342420.5_Missense_Mutation_p.R487K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R525K	p.R507K	NM_199259.2	NP_954868.1	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)	23	1887	-			525			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1520G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.086514	0.00367	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.82081	-1.57;-1.57;-1.57	2.39	2.39	0.29439	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.246048	0.40302	N	0.001128	T	0.41949	0.1181	N	0.00215	-1.835	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.52373	-0.8584	10	0.02654	T	1	-6.0425	6.033	0.19690	0.0:0.1407:0.0:0.8593	.	487;507;525	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	K	507;525;487	ENSP00000298232:R507K;ENSP00000355208:R525K;ENSP00000344441:R487K	ENSP00000298232:R507K	R	-	2	0	TPTE	9928858	1.000000	0.71417	0.167000	0.22817	0.003000	0.03518	2.119000	0.41958	0.341000	0.23771	-1.461000	0.01025	AGA		0.358	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			6	54	0	0	0	1	0	6	54					T	10906987	C	T	10906987	3	4	48	1	0	0	0	0	1	0	0	0	16445	913	32	3	85	3	TPTE	21	10906987	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08		10906987	37222908	4254	8722										
TPTE	7179	broad.mit.edu	37	chr21	10908881	10908881	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaaatgagcaattgtcataGtatgtaggaagattctaaaa	8	3	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:10908881G>T	ENST00000361285.4	-	23	1793	c.1464C>A	c.(1462-1464)taC>taA	p.Y488*	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Nonsense_Mutation_p.Y450*|TPTE_ENST00000298232.7_Nonsense_Mutation_p.Y470*	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	488	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)			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)		AATTGTCATAGTATGTAGGAA	0.274																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1408-1410)taC>taA		transmembrane phosphatase with tensin homology							105	100	102					21																	10908881		2202	4297	6499	SO:0001587	stop_gained	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10908881G>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1464C>A	21.37:g.10908881G>T	ENSP00000355208:p.Tyr488*		Somatic				TPTE_ENST00000342420.5_Nonsense_Mutation_p.Y450*|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Nonsense_Mutation_p.Y488*	p.Y470*	NM_199259.2	NP_954868.1	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	1777	-			488		L -> P (in dbSNP:rs150482).	C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Nonsense_Mutation	SNP	ENST00000361285.4	37	c.1410C>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	21.7	4.187146	0.78789	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.18	2.18	0.27775	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.1665	10.4863	0.44724	0.0:0.0:1.0:0.0	.	.	.	.	X	470;488;450	.	ENSP00000298232:Y470X	Y	-	3	2	TPTE	9930752	1.000000	0.71417	0.865000	0.33974	0.068000	0.16541	1.534000	0.36051	1.521000	0.48983	0.184000	0.17185	TAC		0.274	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			8	29	1	0	0.00307968	1	0.00320271	8	29					T	10908881	G	T	10908881	4	4	48	1	0	0	0	0	0	1	0	0	16445	1024	36	5	199	5	TPTE	21	10908881	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1894	10908881	37221014	4255	8723										
TPTE	7179	broad.mit.edu	37	chr21	10920137	10920137	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgtgggttttatctgttcGcctttctccaaaataataca	7	9	2	0	rs537312499	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:10920137G>A	ENST00000361285.4	-	19	1446	c.1117C>T	c.(1117-1119)Cga>Tga	p.R373*	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Nonsense_Mutation_p.R335*|TPTE_ENST00000298232.7_Nonsense_Mutation_p.R355*	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	373	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTATCTGTTCGCCTTTCTCCA	0.383													.|||	2	0.000399361	0	0	5008	,	,		44876	0.002		0	False		,,,				2504	0					ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1063-1065)Cga>Tga		transmembrane phosphatase with tensin homology							100	94	96					21																	10920137		2203	4299	6502	SO:0001587	stop_gained	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10920137G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1117C>T	21.37:g.10920137G>A	ENSP00000355208:p.Arg373*		Somatic				TPTE_ENST00000342420.5_Nonsense_Mutation_p.R335*|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Nonsense_Mutation_p.R373*	p.R355*	NM_199259.2	NP_954868.1	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)	18	1430	-			373			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Nonsense_Mutation	SNP	ENST00000361285.4	37	c.1063C>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	20.3	3.959749	0.74016	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.32	0.0779	0.14410	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0153	3.162	0.06523	0.165:0.0:0.5866:0.2484	.	.	.	.	X	355;373;335	.	ENSP00000298232:R355X	R	-	1	2	TPTE	9942008	0.933000	0.31639	0.576000	0.28549	0.119000	0.20118	1.274000	0.33132	0.234000	0.21139	-1.109000	0.02080	CGA		0.383	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			11	61	0	0	0	1	0	11	61					A	10920137	G	A	10920137	4	1	48	1	0	0	0	0	0	1	0	0	16445	1095	38	1	562	1	TPTE	21	10920137	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	11256	10920137	37209758	4256	8724										
TPTE	7179	broad.mit.edu	37	chr21	10942994	10942994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcttaacagaataataagtCgtagaagtcgaagtaaatgt	8	4	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:10942994C>T	ENST00000361285.4	-	12	922	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R160Q|TPTE_ENST00000298232.7_Missense_Mutation_p.R180Q	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	198					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATAATAAGTCGTAGAAGTCG	0.308																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(538-540)cGa>cAa		transmembrane phosphatase with tensin homology							77	71	73					21																	10942994		2203	4298	6501	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10942994C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.593G>A	21.37:g.10942994C>T	ENSP00000355208:p.Arg198Gln		Somatic				TPTE_ENST00000342420.5_Missense_Mutation_p.R160Q|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R198Q	p.R180Q	NM_199259.2	NP_954868.1	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)	11	906	-			198					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.539G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	14.50	2.555021	0.45487	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98617	-5.03;-5.03;-5.03	2.07	2.07	0.26955	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.98729	0.9573	M	0.83312	2.635	0.50813	D	0.999891	D;D;D	0.71674	0.995;0.995;0.998	P;P;D	0.63877	0.868;0.868;0.919	D	0.98519	1.0622	10	0.87932	D	0	-4.2096	10.2257	0.43225	0.0:1.0:0.0:0.0	.	160;180;198	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Q	180;198;160	ENSP00000298232:R180Q;ENSP00000355208:R198Q;ENSP00000344441:R160Q	ENSP00000298232:R180Q	R	-	2	0	TPTE	9964865	1.000000	0.71417	0.137000	0.22149	0.052000	0.14988	4.994000	0.63901	1.470000	0.48102	0.194000	0.17425	CGA		0.308	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			6	44	0	0	0	1	0	6	44					T	10942994	C	T	10942994	3	4	48	1	0	0	0	0	1	0	0	0	16445	884	31	1	1114	1	TPTE	21	10942994	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	22857	10942994	37186901	4257	8725										
BAGE	85319	broad.mit.edu	37	chr21	11097646	11097646	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcagacaatgccagaaaaaCctacaataggatgcagaaag	10	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:11097646C>A	ENST00000470054.1	-	0	223							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gccagaaaaacctacaatagG	0.577																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							55	70	65					21																	11097646		1428	2592	4020			85319							g.chr21:11097646C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11097646C>A			Somatic								WXS	Illumina GAIIx	Phase_I			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	223	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.577	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	68	1	0	0.00116845	1	0.00122532	5	68					A	11097646	C	A	11097646	1	1	48	0	1	0	0	0	0	0	0	0	1291	521	18	5		5	BAGE	21	11097646	RNA	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	154652	11097646	37032249	4258	8726										
LIPI	149998	broad.mit.edu	37	chr21	15561492	15561492	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcttcttcattcagcaaaaTccttacgaagttctgaagcc	5	11	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:15561492T>C	ENST00000536861.1	-	2	294	c.295A>G	c.(295-297)Att>Gtt	p.I99V	LIPI_ENST00000344577.2_Missense_Mutation_p.I120V			Q6XZB0	LIPI_HUMAN	lipase, member I	99					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTCAGCAAAATCCTTACGAAG	0.368																																						ENST00000344577.2																			0				endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54						c.(358-360)Att>Gtt		lipase, member I							94	88	90					21																	15561492		2203	4300	6503	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15561492T>C	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.295A>G	21.37:g.15561492T>C	ENSP00000440381:p.Ile99Val		Somatic				LIPI_ENST00000536861.1_Missense_Mutation_p.I99V	p.I120V	NM_198996.2	NP_945347.1	WXS	Illumina GAIIx	Phase_I	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	2	383	-			99					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.358A>G		.	.	.	.	.	.	.	.	.	.	T	0.046	-1.266296	0.01433	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.90004	-2.6;-2.6	5.3	-3.31	0.04988	.	0.807220	0.11747	N	0.533448	T	0.71341	0.3328	N	0.04508	-0.205	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.003	T	0.58429	-0.7638	10	0.33940	T	0.23	.	7.9868	0.30216	0.0:0.3489:0.3032:0.3479	.	99;120	G1JSG6;Q6XZB0-2	.;.	V	120;99	ENSP00000343331:I120V;ENSP00000440381:I99V	ENSP00000343331:I120V	I	-	1	0	LIPI	14483363	0.000000	0.05858	0.021000	0.16686	0.072000	0.16883	-0.027000	0.12371	-0.356000	0.08187	0.533000	0.62120	ATT		0.368	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		12	28	0	0	0	1	0	12	28					C	15561492	T	C	15561492	3	2	48	1	0	0	0	0	1	0	0	0	8834	1435	50	4	1123	4	LIPI	21	15561492	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	4463846	15561492	32568403	4259	8727										
NRIP1	8204	broad.mit.edu	37	chr21	16337987	16337987	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgattctagaagtgccatttCattatttctgtgactcctgt	7	8	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:16337987C>A	ENST00000400202.1	-	3	3239	c.2527G>T	c.(2527-2529)Gaa>Taa	p.E843*	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.E843*|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.E843*			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	843	Interaction with ZNF366.|Repression domain 3.				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)		AGTGCCATTTCATTATTTCTG	0.353																																						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.(2527-2529)Gaa>Taa		nuclear receptor interacting protein 1							80	88	85					21																	16337987		2202	4298	6500	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.chr21:16337987C>A	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.2527G>T	21.37:g.16337987C>A	ENSP00000383063:p.Glu843*		Somatic				NRIP1_ENST00000318948.4_Nonsense_Mutation_p.E843*|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.E843*	p.E843*			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	3239	-			843			Repression domain 3.		Q8IWE8	Nonsense_Mutation	SNP	ENST00000400202.1	37	c.2527G>T	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	C	44	11.029384	0.99505	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	.	.	.	5.45	4.56	0.56223	.	0.365192	0.27437	N	0.019374	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-20.9911	17.0425	0.86493	0.0:0.8724:0.1276:0.0	.	.	.	.	X	843	.	ENSP00000327213:E843X	E	-	1	0	NRIP1	15259858	1.000000	0.71417	0.993000	0.49108	0.719000	0.41307	5.349000	0.66010	1.616000	0.50265	0.655000	0.94253	GAA		0.353	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		27	39	1	0	1.38267e-23	1	1.93402e-23	27	39					A	16337987	C	A	16337987	4	1	48	1	0	0	0	0	0	1	0	0	10661	835	29	2	953	2	NRIP1	21	16337987	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	776495	16337987	31791908	4260	8728										
NRIP1	8204	broad.mit.edu	37	chr21	16339938	16339938	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcttttgatctttaactttActtttcttcaacaaagtttt	4	7	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:16339938A>G	ENST00000400202.1	-	3	1288	c.576T>C	c.(574-576)agT>agC	p.S192S	NRIP1_ENST00000318948.4_Silent_p.S192S|NRIP1_ENST00000400199.1_Silent_p.S192S			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	192	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)		CTTTAACTTTACTTTTCTTCA	0.378																																						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.(574-576)agT>agC		nuclear receptor interacting protein 1							77	74	75					21																	16339938		2203	4300	6503	SO:0001819	synonymous_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339938A>G	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.576T>C	21.37:g.16339938A>G			Somatic				NRIP1_ENST00000318948.4_Silent_p.S192S|NRIP1_ENST00000400199.1_Silent_p.S192S	p.S192S			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	1288	-			192			Repression domain 1.		Q8IWE8	Silent	SNP	ENST00000400202.1	37	c.576T>C	CCDS13568.1																																																																																				0.378	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		22	38	0	0	0	1	0	22	38					G	16339938	A	G	16339938	2	3	48	1	0	0	0	0	0	0	0	1	10661	388	14	4		4	NRIP1	21	16339938	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1951	16339938	31789957	4261	8729										
USP25	29761	broad.mit.edu	37	chr21	17191113	17191113	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctagaagctgcaatgattgAaggagaaattgagtctttac	10	6	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:17191113A>G	ENST00000285679.6	+	10	1397	c.1028A>G	c.(1027-1029)gAa>gGa	p.E343G	USP25_ENST00000400183.2_Missense_Mutation_p.E343G|USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Missense_Mutation_p.E343G	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	343	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GCAATGATTGAAGGAGAAATT	0.383																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(1027-1029)gAa>gGa		ubiquitin specific peptidase 25							150	148	149					21																	17191113		2203	4300	6503	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17191113A>G	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1028A>G	21.37:g.17191113A>G	ENSP00000285679:p.Glu343Gly		Somatic				USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.E343G|USP25_ENST00000400183.2_Missense_Mutation_p.E343G	p.E343G			WXS	Illumina GAIIx	Phase_I	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	10	1397	+			343					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.1028A>G	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	A	19.33	3.806700	0.70682	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.74947	-0.89;-0.89;-0.89	4.26	4.26	0.50523	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.102996	0.64402	D	0.000003	D	0.83036	0.5167	M	0.80982	2.52	0.80722	D	1	P;P;B	0.49253	0.837;0.921;0.322	P;P;B	0.55508	0.547;0.777;0.264	D	0.85039	0.0922	10	0.51188	T	0.08	.	14.4422	0.67325	1.0:0.0:0.0:0.0	.	343;343;343	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	G	343	ENSP00000285681:E343G;ENSP00000285679:E343G;ENSP00000383044:E343G	ENSP00000285679:E343G	E	+	2	0	USP25	16112984	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.643000	0.91040	2.149000	0.67028	0.533000	0.62120	GAA		0.383	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			32	55	0	0	0	1	0	32	55					G	17191113	A	G	17191113	3	3	48	1	0	0	0	0	1	0	0	0	17071	246	9	4	1066	4	USP25	21	17191113	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	851175	17191113	30938782	4262	8730										
USP25	29761	broad.mit.edu	37	chr21	17214759	17214759	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atatctagagcagccatcaaGaagtgatttctcaaagcact	7	9	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:17214759G>T	ENST00000285679.6	+	18	2606	c.2237G>T	c.(2236-2238)aGa>aTa	p.R746I	USP25_ENST00000400183.2_Missense_Mutation_p.R746I|USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Missense_Mutation_p.R746I	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	746					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CAGCCATCAAGAAGTGATTTC	0.358																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(2236-2238)aGa>aTa		ubiquitin specific peptidase 25							87	91	89					21																	17214759		2203	4300	6503	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17214759G>T	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2237G>T	21.37:g.17214759G>T	ENSP00000285679:p.Arg746Ile		Somatic				USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.R746I|USP25_ENST00000400183.2_Missense_Mutation_p.R746I	p.R746I			WXS	Illumina GAIIx	Phase_I	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	18	2606	+			746					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.2237G>T	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132451	0.56828	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.23754	1.9;1.9;1.89	5.47	5.47	0.80525	.	0.105285	0.64402	D	0.000003	T	0.26122	0.0637	L	0.44542	1.39	0.49130	D	0.999757	P;B;B	0.37398	0.593;0.228;0.08	B;B;B	0.40506	0.331;0.037;0.027	T	0.01930	-1.1245	10	0.40728	T	0.16	.	12.6381	0.56694	0.0757:0.0:0.9243:0.0	.	746;746;746	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	I	746	ENSP00000285681:R746I;ENSP00000285679:R746I;ENSP00000383044:R746I	ENSP00000285679:R746I	R	+	2	0	USP25	16136630	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.172000	0.65003	2.573000	0.86826	0.655000	0.94253	AGA		0.358	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			21	53	1	0	3.62473e-10	1	4.42315e-10	21	53					T	17214759	G	T	17214759	3	4	48	1	0	0	0	0	1	0	0	0	17071	942	33	2	2307	2	USP25	21	17214759	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	23646	17214759	30915136	4263	8731										
USP25	29761	broad.mit.edu	37	chr21	17250772	17250772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatcatgttgtccctcagtcGaactcctgctgatggaagat	9	10	2	2	rs549945211	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:17250772G>A	ENST00000285679.6	+	24	3515	c.3146G>A	c.(3145-3147)cGa>cAa	p.R1049Q	USP25_ENST00000400183.2_Missense_Mutation_p.R1119Q|USP25_ENST00000351097.5_Missense_Mutation_p.R444Q|USP25_ENST00000285681.2_Missense_Mutation_p.R1081Q	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	1049					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.R1049Q(2)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TCCCTCAGTCGAACTCCTGCT	0.438													G|||	2	0.000399361	0	0	5008	,	,		17817	0		0	False		,,,				2504	0.002					ENST00000285681.2																			2	Substitution - Missense(2)	p.R1049Q(2)	large_intestine(2)	breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(3241-3243)cGa>cAa		ubiquitin specific peptidase 25							110	100	103					21																	17250772		2203	4300	6503	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17250772G>A	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.3146G>A	21.37:g.17250772G>A	ENSP00000285679:p.Arg1049Gln		Somatic				USP25_ENST00000351097.5_Missense_Mutation_p.R444Q|USP25_ENST00000285679.6_Missense_Mutation_p.R1049Q|USP25_ENST00000400183.2_Missense_Mutation_p.R1119Q	p.R1081Q			WXS	Illumina GAIIx	Phase_I	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	25	3611	+			1049					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.3242G>A	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560817	0.65538	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	T;T;T;T	0.33216	1.82;1.83;1.42;1.82	5.92	5.92	0.95590	.	0.233302	0.42821	D	0.000646	T	0.43722	0.1260	L	0.41236	1.265	0.38800	D	0.955174	D;D;D;P	0.71674	0.998;0.996;0.979;0.955	P;P;P;B	0.56563	0.759;0.801;0.638;0.357	T	0.10245	-1.0638	10	0.36615	T	0.2	-10.4026	20.3172	0.98658	0.0:0.0:1.0:0.0	.	1119;444;1081;1049	Q9UHP3-3;Q96B65;Q9UHP3-1;Q9UHP3	.;.;.;UBP25_HUMAN	Q	1081;1049;444;1119	ENSP00000285681:R1081Q;ENSP00000285679:R1049Q;ENSP00000299574:R444Q;ENSP00000383044:R1119Q	ENSP00000285679:R1049Q	R	+	2	0	USP25	16172643	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.325000	0.65869	2.801000	0.96364	0.650000	0.86243	CGA		0.438	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			17	31	0	0	0	1	0	17	31					A	17250772	G	A	17250772	3	1	48	1	0	0	0	0	1	0	0	0	17071	1058	37	1	3240	1	USP25	21	17250772	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	36013	17250772	30879123	4264	8732										
CHODL	140578	broad.mit.edu	37	chr21	19628962	19628962	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagtcctcctcagccttgaGaatgaagcagaacagaagtt	11	9	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:19628962G>T	ENST00000299295.2	+	2	607	c.216G>T	c.(214-216)gaG>gaT	p.E72D	CHODL_ENST00000400128.1_Missense_Mutation_p.E31D|CHODL_ENST00000400131.1_Missense_Mutation_p.E31D|CHODL_ENST00000400135.1_Missense_Mutation_p.E31D|CHODL_ENST00000338326.3_Missense_Mutation_p.E31D|CHODL_ENST00000543733.1_Missense_Mutation_p.E53D|CHODL_ENST00000400127.1_Missense_Mutation_p.E31D	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	72	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		TCAGCCTTGAGAATGAAGCAG	0.502																																						ENST00000299295.2																			0				kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(214-216)gaG>gaT		chondrolectin							81	85	83					21																	19628962		2203	4300	6503	SO:0001583	missense	140578				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	g.chr21:19628962G>T	AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"chromosome 21 open reading frame 68"	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.216G>T	21.37:g.19628962G>T	ENSP00000299295:p.Glu72Asp		Somatic				CHODL_ENST00000400131.1_Missense_Mutation_p.E31D|CHODL_ENST00000400135.1_Missense_Mutation_p.E31D|CHODL_ENST00000543733.1_Missense_Mutation_p.E53D|CHODL_ENST00000338326.3_Missense_Mutation_p.E31D|CHODL_ENST00000400127.1_Missense_Mutation_p.E31D|CHODL_ENST00000400128.1_Missense_Mutation_p.E31D	p.E72D	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	WXS	Illumina GAIIx	Phase_I	Q9H9P2	CHODL_HUMAN		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)	2	607	+		all_epithelial(11;0.21)	72			C-type lectin.		B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Missense_Mutation	SNP	ENST00000299295.2	37	c.216G>T	CCDS13570.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071024	0.55646	.	.	ENSG00000154645	ENST00000427223;ENST00000452759;ENST00000465099;ENST00000400128;ENST00000400131;ENST00000400135;ENST00000400127;ENST00000299295;ENST00000338326;ENST00000543733	T;T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16;2.16	5.84	3.02	0.34903	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.342816	0.36628	N	0.002487	T	0.31420	0.0796	L	0.49350	1.555	0.41982	D	0.990809	B;B;D	0.62365	0.007;0.001;0.991	B;B;D	0.65874	0.011;0.007;0.939	T	0.04427	-1.0952	9	.	.	.	-8.1173	5.3596	0.16081	0.2842:0.1466:0.5692:0.0	.	72;53;31	Q9H9P2;B4DJB8;Q9H9P2-3	CHODL_HUMAN;.;.	D	31;31;31;31;31;31;31;72;31;53	ENSP00000382993:E31D;ENSP00000382996:E31D;ENSP00000383001:E31D;ENSP00000382992:E31D;ENSP00000299295:E72D;ENSP00000339975:E31D;ENSP00000443566:E53D	.	E	+	3	2	CHODL	18550833	0.999000	0.42202	0.994000	0.49952	0.998000	0.95712	0.943000	0.29030	0.807000	0.34208	0.650000	0.86243	GAG		0.502	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158232.1	NM_024944		11	84	1	0	0.000673444	1	0.000709932	11	84					T	19628962	G	T	19628962	3	4	48	1	0	0	0	0	1	0	0	0	3366	933	33	2	222	2	CHODL	21	19628962	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2378190	19628962	28500933	4265	8733										
TMPRSS15	5651	broad.mit.edu	37	chr21	19775932	19775932	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagaagatatgcctcttttcGaccccatttttggttttgaa	7	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:19775932G>T	ENST00000284885.3	-	1	41	c.8C>A	c.(7-9)tCg>tAg	p.S3*		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	3						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						GCCTCTTTTCGACCCCATTTT	0.348																																						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.(7-9)tCg>tAg		transmembrane protease, serine 15							118	114	115					21																	19775932		2203	4300	6503	SO:0001587	stop_gained	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19775932G>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.8C>A	21.37:g.19775932G>T	ENSP00000284885:p.Ser3*		Somatic					p.S3*	NM_002772.2	NP_002763.2	WXS	Illumina GAIIx	Phase_I	P98073	ENTK_HUMAN			1	41	-			3					Q2NKL7	Nonsense_Mutation	SNP	ENST00000284885.3	37	c.8C>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275315	0.80580	.	.	ENSG00000154646	ENST00000284885	.	.	.	5.16	2.56	0.30785	.	0.810362	0.11072	N	0.602816	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4464	0.21879	0.2601:0.0:0.7399:0.0	.	.	.	.	X	3	.	.	S	-	2	0	TMPRSS15	18697803	0.003000	0.15002	0.001000	0.08648	0.005000	0.04900	1.385000	0.34408	0.778000	0.33520	0.563000	0.77884	TCG		0.348	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		10	48	1	0	7.48243e-07	1	8.49459e-07	10	48					T	19775932	G	T	19775932	4	4	48	1	0	0	0	0	0	1	0	0	16261	1059	37	2	3151	2	TMPRSS15	21	19775932	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	146970	19775932	28353963	4266	8734										
NCAM2	4685	broad.mit.edu	37	chr21	22790860	22790860	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cactaatcatataggaacaaGatttcaagaatatattcttg	5	6	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:22790860G>T	ENST00000400546.1	+	11	1700	c.1451G>T	c.(1450-1452)aGa>aTa	p.R484I	NCAM2_ENST00000284894.7_Missense_Mutation_p.R342I	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	484	Ig-like C2-type 5.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATAGGAACAAGATTTCAAGAA	0.308																																						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.(1450-1452)aGa>aTa		neural cell adhesion molecule 2							107	105	105					21																	22790860		1830	4082	5912	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22790860G>T		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.1451G>T	21.37:g.22790860G>T	ENSP00000383392:p.Arg484Ile		Somatic				NCAM2_ENST00000284894.7_Missense_Mutation_p.R342I	p.R484I	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)	11	1700	+		Lung NSC(9;0.195)	484			Ig-like C2-type 5.		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1451G>T	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729699	0.89390	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.67523	-0.27;-0.27	5.07	5.07	0.68467	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79592	0.4472	L	0.57130	1.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81581	-0.0867	10	0.72032	D	0.01	-31.2043	17.0099	0.86403	0.0:0.0:1.0:0.0	.	342;484	B7Z5K2;O15394	.;NCAM2_HUMAN	I	484;342	ENSP00000383392:R484I;ENSP00000284894:R342I	ENSP00000284894:R342I	R	+	2	0	NCAM2	21712731	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.881000	0.69706	2.359000	0.80004	0.467000	0.42956	AGA		0.308	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		24	42	1	0	4.4004e-07	1	5.01286e-07	24	42					T	22790860	G	T	22790860	3	4	48	1	0	0	0	0	1	0	0	0	10212	942	33	2	1493	2	NCAM2	21	22790860	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3014928	22790860	25339035	4267	8735										
MRPL39	54148	broad.mit.edu	37	chr21	26978793	26978793	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtagggagttgaaatgtttTtattcatcacgaagacagta	10	4	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:26978793T>G	ENST00000352957.4	-	2	289	c.248A>C	c.(247-249)aAa>aCa	p.K83T	MRPL39_ENST00000307301.7_Missense_Mutation_p.K83T	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	83						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TGAAATGTTTTTATTCATCAC	0.433																																						ENST00000307301.7																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						c.(247-249)aAa>aCa		mitochondrial ribosomal protein L39							128	111	117					21																	26978793		2203	4300	6503	SO:0001583	missense	54148					mitochondrial ribosome	nucleotide binding	g.chr21:26978793T>G	AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"Mitochondrial ribosomal proteins / large subunits"	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.248A>C	21.37:g.26978793T>G	ENSP00000284967:p.Lys83Thr		Somatic				MRPL39_ENST00000352957.4_Missense_Mutation_p.K83T	p.K83T	NM_080794.3	NP_542984.2	WXS	Illumina GAIIx	Phase_I	Q9NYK5	RM39_HUMAN			2	289	-			83					C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Missense_Mutation	SNP	ENST00000352957.4	37	c.248A>C	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287301	0.80803	.	.	ENSG00000154719	ENST00000352957;ENST00000307301;ENST00000419219	T;T;T	0.45276	0.9;0.9;0.9	5.36	5.36	0.76844	.	0.106561	0.64402	D	0.000004	T	0.64811	0.2632	M	0.81942	2.565	0.53005	D	0.999966	D;D	0.67145	0.996;0.991	D;D	0.66979	0.948;0.93	T	0.67241	-0.5720	10	0.45353	T	0.12	-14.9421	15.1549	0.72733	0.0:0.0:0.0:1.0	.	83;83	Q9NYK5;Q9NYK5-2	RM39_HUMAN;.	T	83	ENSP00000284967:K83T;ENSP00000305682:K83T;ENSP00000404426:K83T	ENSP00000305682:K83T	K	-	2	0	MRPL39	25900664	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.573000	0.67417	2.247000	0.74100	0.482000	0.46254	AAA		0.433	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446		10	25	0	0	0	1	0	10	25					G	26978793	T	G	26978793	3	3	48	1	0	0	0	0	1	0	0	0	9811	1841	64	4	897	4	MRPL39	21	26978793	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	4187933	26978793	21151102	4268	8736										
APP	351	broad.mit.edu	37	chr21	27347537	27347537	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagattccactttctcctggAaatgctgccatcataaacac	5	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:27347537A>G	ENST00000346798.3	-	11	1337	c.1304T>C	c.(1303-1305)tTc>tCc	p.F435S	APP_ENST00000439274.2_Missense_Mutation_p.F379S|APP_ENST00000359726.3_Missense_Mutation_p.F379S|APP_ENST00000348990.5_Missense_Mutation_p.F360S|APP_ENST00000354192.3_Missense_Mutation_p.F304S|APP_ENST00000440126.3_Missense_Mutation_p.F411S|APP_ENST00000357903.3_Missense_Mutation_p.F416S|APP_ENST00000358918.3_Missense_Mutation_p.F435S|APP_ENST00000448388.2_Missense_Mutation_p.F325S	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	435					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TTTCTCCTGGAAATGCTGCCA	0.453																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1303-1305)tTc>tCc		amyloid beta (A4) precursor protein							118	94	102					21																	27347537		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27347537A>G	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1304T>C	21.37:g.27347537A>G	ENSP00000284981:p.Phe435Ser		Somatic				APP_ENST00000448388.2_Missense_Mutation_p.F325S|APP_ENST00000348990.5_Missense_Mutation_p.F360S|APP_ENST00000357903.3_Missense_Mutation_p.F416S|APP_ENST00000440126.3_Missense_Mutation_p.F411S|APP_ENST00000346798.3_Missense_Mutation_p.F435S|APP_ENST00000354192.3_Missense_Mutation_p.F304S|APP_ENST00000359726.3_Missense_Mutation_p.F379S|APP_ENST00000439274.2_Missense_Mutation_p.F379S	p.F435S	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	WXS	Illumina GAIIx	Phase_I	P05067	A4_HUMAN			11	1503	-		Breast(209;0.00295)	435					B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.1304T>C	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333479	0.81801	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209	T;T;T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	4.42	4.42	0.53409	Amyloidogenic glycoprotein, E2 domain (2);	0.044308	0.85682	D	0.000000	T	0.80819	0.4696	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.81914	0.985;0.985;0.995;0.974;0.991;0.991;0.994	D	0.84606	0.0675	10	0.72032	D	0.01	-19.0097	14.3667	0.66810	1.0:0.0:0.0:0.0	.	325;379;411;304;360;416;435	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	S	435;304;360;416;435;379;325;411;379;22	ENSP00000284981:F435S;ENSP00000346129:F304S;ENSP00000345463:F360S;ENSP00000350578:F416S;ENSP00000351796:F435S;ENSP00000352760:F379S;ENSP00000388538:F325S;ENSP00000387483:F411S;ENSP00000398879:F379S;ENSP00000397795:F22S	ENSP00000284981:F435S	F	-	2	0	APP	26269408	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.709000	0.91379	2.220000	0.72140	0.383000	0.25322	TTC		0.453	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		16	41	0	0	0	1	0	16	41					G	27347537	A	G	27347537	3	3	48	1	0	0	0	0	1	0	0	0	815	246	9	4	1040	4	APP	21	27347537	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	368744	27347537	20782358	4269	8737										
ADAMTS1	9510	broad.mit.edu	37	chr21	28212196	28212196	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagtccgttgctcctcaccaTtattgtctggacagtcctca	8	13	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:28212196T>A	ENST00000284984.3	-	6	2304	c.1850A>T	c.(1849-1851)aAt>aTt	p.N617I		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	617	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)			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)		CTCCTCACCATTATTGTCTGG	0.433																																						ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(1849-1851)aAt>aTt		ADAM metallopeptidase with thrombospondin type 1 motif, 1							146	137	140					21																	28212196		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28212196T>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1850A>T	21.37:g.28212196T>A	ENSP00000284984:p.Asn617Ile		Somatic					p.N617I	NM_006988.3	NP_008919.3	WXS	Illumina GAIIx	Phase_I	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	6	2304	-		Breast(209;0.000962)	617			Cys-rich.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.1850A>T	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.282226	0.40394	.	.	ENSG00000154734	ENST00000284984	T	0.62364	0.03	5.11	3.93	0.45458	.	.	.	.	.	T	0.58538	0.2129	M	0.67700	2.07	0.51233	D	0.999916	B	0.21225	0.053	B	0.20184	0.028	T	0.58651	-0.7599	9	0.62326	D	0.03	.	9.3203	0.37959	0.0:0.1468:0.0:0.8532	.	617	Q9UHI8	ATS1_HUMAN	I	617	ENSP00000284984:N617I	ENSP00000284984:N617I	N	-	2	0	ADAMTS1	27134067	1.000000	0.71417	0.429000	0.26710	0.882000	0.50991	4.650000	0.61440	1.045000	0.40225	0.533000	0.62120	AAT		0.433	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			31	72	0	0	0	1	0	31	72					A	28212196	T	A	28212196	3	1	48	1	0	0	0	0	1	0	0	0	255	1493	52	4	1069	4	ADAMTS1	21	28212196	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	864659	28212196	19917699	4270	8738										
N6AMT1	29104	broad.mit.edu	37	chr21	30248814	30248814	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattattttcaaaatttcttCtaaaataaaaatcaaaaggt	2	5	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:30248814C>A	ENST00000303775.5	-	6	564		c.e6-1		N6AMT1_ENST00000351429.3_Splice_Site	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)						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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						AAAATTTCTTCTAAAATAAAA	0.323																																						ENST00000303775.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						c.e6-1		N-6 adenine-specific DNA methyltransferase 1 (putative)							69	66	67					21																	30248814		2202	4300	6502	SO:0001630	splice_region_variant	29104				positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	g.chr21:30248814C>A	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.539-1G>T	21.37:g.30248814C>A			Somatic				N6AMT1_ENST00000351429.3_Splice_Site		NM_013240.4	NP_037372.3	WXS	Illumina GAIIx	Phase_I	Q9Y5N5	HEMK2_HUMAN			6	564	-								Q96F73	Splice_Site	SNP	ENST00000303775.5	37		CCDS33526.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943867	0.53079	.	.	ENSG00000156239	ENST00000303775;ENST00000351429	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7671	0.63002	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	N6AMT1	29170685	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	4.247000	0.58750	2.623000	0.88846	0.557000	0.71058	.		0.323	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171738.1	NM_013240	Intron	13	15	1	0	0.00136819	1	0.00143372	13	15					A	30248814	C	A	30248814	5	1	48	1	0	0	0	0	0	0	1	0	10123	927	32	2	110	2	N6AMT1	21	30248814	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2036618	30248814	17881081	4271	8739										
RNF160	26046	broad.mit.edu	37	chr21	30358482	30358482	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgaaattttgcaaaaaattCttggccaatatggaagaact	8	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:30358482C>A	ENST00000361371.5	-	3	402	c.323G>T	c.(322-324)aGa>aTa	p.R108I	LTN1_ENST00000389194.2_Missense_Mutation_p.R154I|LTN1_ENST00000389195.2_Missense_Mutation_p.R154I			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	108				R -> T (in Ref. 7; DB452437). {ECO:0000305}.	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						GCAAAAAATTCTTGGCCAATA	0.318																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(322-324)aGa>aTa		listerin E3 ubiquitin protein ligase 1							57	59	58					21																	30358482		2202	4300	6502	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30358482C>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.323G>T	21.37:g.30358482C>A	ENSP00000354977:p.Arg108Ile		Somatic				LTN1_ENST00000389195.2_Missense_Mutation_p.R154I|LTN1_ENST00000389194.2_Missense_Mutation_p.R154I	p.R108I	NM_015565.2	NP_056380.2	WXS	Illumina GAIIx	Phase_I	O94822	LTN1_HUMAN			3	473	-			108					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.323G>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.061970	0.76187	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.66815	3.61;3.61;-0.23	4.2	4.2	0.49525	Armadillo-like helical (1);Armadillo-type fold (1);	0.061993	0.64402	D	0.000005	T	0.80803	0.4693	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.81780	-0.0776	10	0.40728	T	0.16	.	16.7488	0.85480	0.0:1.0:0.0:0.0	.	108	O94822	LTN1_HUMAN	I	154;108;110;154	ENSP00000373846:R154I;ENSP00000354977:R108I;ENSP00000373847:R154I	ENSP00000354977:R108I	R	-	2	0	LTN1	29280353	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.195000	0.58400	2.190000	0.69967	0.467000	0.42956	AGA		0.318	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		10	10	1	0	2.52707e-12	1	3.18246e-12	10	10					A	30358482	C	A	30358482	3	1	48	1	0	0	0	0	1	0	0	0	13470	913	32	2	5089	2	RNF160	21	30358482	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	109668	30358482	17771413	4272	8740										
RWDD2B	10069	broad.mit.edu	37	chr21	30380935	30380935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaatcatttttggacatgtGtaagtttctaaggaggtaaa	9	4	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:30380935G>A	ENST00000493196.1	-	2	175	c.75C>T	c.(73-75)taC>taT	p.Y25Y	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	25										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TTGGACATGTGTAAGTTTCTA	0.403																																						ENST00000493196.1																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						c.(73-75)taC>taT		RWD domain containing 2B							33	31	32					21																	30380935		2203	4300	6503	SO:0001819	synonymous_variant	10069							g.chr21:30380935G>A	AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 6"	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.75C>T	21.37:g.30380935G>A			Somatic				RWDD2B_ENST00000486719.1_5'UTR	p.Y25Y	NM_016940.2	NP_058636.1	WXS	Illumina GAIIx	Phase_I	P57060	RWD2B_HUMAN			2	175	-			25						Silent	SNP	ENST00000493196.1	37	c.75C>T	CCDS13582.1																																																																																				0.403	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1			11	16	0	0	0	1	0	11	16					A	30380935	G	A	30380935	2	1	48	1	0	0	0	0	0	0	0	1	13771	1372	48	3		3	RWDD2B	21	30380935	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	22453	30380935	17748960	4273	8741										
USP16	10600	broad.mit.edu	37	chr21	30403021	30403021	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agactgtaagactgacaataAagtgaaagataaagctgaag	10	4	0	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:30403021A>C	ENST00000334352.4	+	4	398	c.167A>C	c.(166-168)aAa>aCa	p.K56T	USP16_ENST00000399975.3_Missense_Mutation_p.K56T|USP16_ENST00000399976.2_Missense_Mutation_p.K56T|USP16_ENST00000535828.1_Intron	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											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						ACTGACAATAAAGTGAAAGAT	0.368																																					Melanoma(92;625 1444 27493 34101 44971)	ENST00000334352.4																			0				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.(166-168)aAa>aCa		ubiquitin specific peptidase 16							103	97	99					21																	30403021		2203	4300	6503	SO:0001583	missense	0				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30403021A>C	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.167A>C	21.37:g.30403021A>C	ENSP00000334808:p.Lys56Thr		Somatic				USP16_ENST00000399975.3_Missense_Mutation_p.K56T|USP16_ENST00000399976.2_Missense_Mutation_p.K56T|USP16_ENST00000535828.1_Intron	p.K56T	NM_001032410.1	NP_001027582.1	WXS	Illumina GAIIx	Phase_I	Q9Y5T5	UBP16_HUMAN			4	398	+			56						Missense_Mutation	SNP	ENST00000334352.4	37	c.167A>C	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089250	0.55968	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000399973	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.15	2.73	0.32206	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (1);	0.213354	0.48286	D	0.000191	T	0.51193	0.1660	M	0.62723	1.935	0.80722	D	1	P;P;P	0.40476	0.665;0.67;0.718	P;P;P	0.56042	0.661;0.685;0.79	T	0.53158	-0.8478	10	0.66056	D	0.02	.	5.777	0.18285	0.7327:0.0:0.1311:0.1362	.	42;56;56	Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;UBP16_HUMAN	T	56	ENSP00000382857:K56T;ENSP00000382858:K56T;ENSP00000334808:K56T;ENSP00000382855:K56T	ENSP00000334808:K56T	K	+	2	0	USP16	29324892	1.000000	0.71417	0.999000	0.59377	0.758000	0.43043	2.803000	0.47924	2.164000	0.68074	0.254000	0.18369	AAA		0.368	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			10	38	0	0	0	1	0	10	38					C	30403021	A	C	30403021	3	2	48	1	0	0	0	0	1	0	0	0	17062	14	1	4	173	4	USP16	21	30403021	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	22086	30403021	17726874	4274	8742										
KRTAP19-3	337970	broad.mit.edu	37	chr21	31864143	31864143	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccaaagccagagccatatcCgtagcctccatagccacagc	7	16	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:31864143C>A	ENST00000334063.4	-	1	132	c.133G>T	c.(133-135)Gga>Tga	p.G45*		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	45						intermediate filament (GO:0005882)				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						GAGCCATATCCGTAGCCTCCA	0.567																																						ENST00000334063.4																			0				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						c.(133-135)Gga>Tga		keratin associated protein 19-3							186	191	189					21																	31864143		2203	4300	6503	SO:0001587	stop_gained	337970					intermediate filament		g.chr21:31864143C>A	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.133G>T	21.37:g.31864143C>A	ENSP00000386376:p.Gly45*		Somatic					p.G45*	NM_181609.3	NP_853640.1	WXS	Illumina GAIIx	Phase_I	Q7Z4W3	KR193_HUMAN			1	132	-			45						Nonsense_Mutation	SNP	ENST00000334063.4	37	c.133G>T	CCDS13596.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597915	0.28445	.	.	ENSG00000244025	ENST00000334063	.	.	.	3.02	-0.173	0.13322	.	0.000000	0.39274	U	0.001402	.	.	.	.	.	.	0.26426	N	0.976029	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.319	0.32117	0.0:0.7473:0.0:0.2527	.	.	.	.	X	45	.	ENSP00000386376:G45X	G	-	1	0	KRTAP19-3	30786014	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.669000	0.05262	-0.371000	0.08004	-1.718000	0.00708	GGA		0.567	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2			143	245	1	0	1.13124e-70	1	1.64409e-70	143	245					A	31864143	C	A	31864143	4	1	48	1	0	0	0	0	0	1	0	0	8539	661	23	5	116	5	KRTAP19-3	21	31864143	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1461122	31864143	16265752	4275	8743										
KRTAP6-2	337967	broad.mit.edu	37	chr21	31971111	31971111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatagccacagcgcaggcttCcatagccatagcctaggcct	9	14	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:31971111C>T	ENST00000334897.3	-	1	108	c.83G>A	c.(82-84)gGa>gAa	p.G28E	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	28						intermediate filament (GO:0005882)				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						GCGCAGGCTTCCATAGCCATA	0.572																																						ENST00000334897.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						c.(82-84)gGa>gAa		keratin associated protein 6-2							162	134	144					21																	31971111		2203	4300	6503	SO:0001583	missense	337967					intermediate filament		g.chr21:31971111C>T	AP001708	CCDS13600.1	21q22.1	2011-02-10			ENSG00000186930	ENSG00000186930		"Keratin associated proteins"	18932	protein-coding gene	gene with protein product						12359730	Standard	NM_181604		Approved	KAP6.2	uc011adc.2	Q3LI66	OTTHUMG00000057794	ENST00000334897.3:c.83G>A	21.37:g.31971111C>T	ENSP00000334560:p.Gly28Glu		Somatic					p.G28E	NM_181604.1	NP_853635.1	WXS	Illumina GAIIx	Phase_I	Q3LI66	KRA62_HUMAN			1	108	-			28						Missense_Mutation	SNP	ENST00000334897.3	37	c.83G>A	CCDS13600.1	.	.	.	.	.	.	.	.	.	.	C	9.250	1.040541	0.19669	.	.	ENSG00000186930	ENST00000334897	T	0.20332	2.08	4.32	4.32	0.51571	.	.	.	.	.	T	0.25306	0.0615	.	.	.	0.26480	N	0.975136	P	0.45348	0.856	P	0.45195	0.473	T	0.08351	-1.0726	8	0.87932	D	0	.	12.6799	0.56916	0.0:1.0:0.0:0.0	.	28	Q3LI66	KRA62_HUMAN	E	28	ENSP00000334560:G28E	ENSP00000334560:G28E	G	-	2	0	KRTAP6-2	30892982	0.976000	0.34144	0.988000	0.46212	0.326000	0.28443	2.683000	0.46943	2.724000	0.93272	0.644000	0.83932	GGA		0.572	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3			36	64	0	0	0	1	0	36	64					T	31971111	C	T	31971111	3	4	48	1	0	0	0	0	1	0	0	0	8579	855	30	3	108	3	KRTAP6-2	21	31971111	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	106968	31971111	16158784	4276	8744										
KRTAP21-2	337978	broad.mit.edu	37	chr21	32119291	32119291	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtagcaagaggaatagcatCttctgtagcaaagtggtcgg	13	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:32119291C>A	ENST00000333892.2	-	1	260	c.230G>T	c.(229-231)aGa>aTa	p.R77I		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	77						intermediate filament (GO:0005882)	structural constituent of cutaneous appendage (GO:0030281)			lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						GGAATAGCATCTTCTGTAGCA	0.483																																						ENST00000333892.2																			0				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(229-231)aGa>aTa		keratin associated protein 21-2							134	126	129					21																	32119291		2203	4300	6503	SO:0001583	missense	337978					intermediate filament		g.chr21:32119291C>A	AP001709	CCDS13605.1	21q22.1	2006-03-13			ENSG00000187026	ENSG00000187026		"Keratin associated proteins"	18946	protein-coding gene	gene with protein product						12359730	Standard	NM_181617		Approved	KAP21.2	uc011adh.2	Q3LI59	OTTHUMG00000057769	ENST00000333892.2:c.230G>T	21.37:g.32119291C>A	ENSP00000334287:p.Arg77Ile		Somatic					p.R77I	NM_181617.1	NP_853648.1	WXS	Illumina GAIIx	Phase_I	Q3LI59	KR212_HUMAN			1	260	-			77						Missense_Mutation	SNP	ENST00000333892.2	37	c.230G>T	CCDS13605.1	.	.	.	.	.	.	.	.	.	.	C	9.278	1.047306	0.19827	.	.	ENSG00000187026	ENST00000333892	T	0.11169	2.8	4.5	-0.852	0.10713	.	.	.	.	.	T	0.07188	0.0182	.	.	.	0.09310	N	1	B	0.29085	0.232	B	0.29942	0.109	T	0.38112	-0.9676	8	0.87932	D	0	-0.9017	1.315	0.02105	0.1499:0.4381:0.146:0.266	.	77	Q3LI59	KR212_HUMAN	I	77	ENSP00000334287:R77I	ENSP00000334287:R77I	R	-	2	0	KRTAP21-2	31041162	0.006000	0.16342	0.000000	0.03702	0.150000	0.21749	-0.429000	0.06982	-0.435000	0.07264	0.650000	0.86243	AGA		0.483	KRTAP21-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128221.2			73	115	1	0	1.15074e-40	1	1.66211e-40	73	115					A	32119291	C	A	32119291	3	1	48	1	0	0	0	0	1	0	0	0	8548	913	32	2	23	2	KRTAP21-2	21	32119291	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	148180	32119291	16010604	4277	8745										
TIAM1	7074	broad.mit.edu	37	chr21	32638913	32638913	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctctcctcagtgtctggcaTgctctgcacagaggctgctg	12	13	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:32638913T>G	ENST00000286827.3	-	5	847	c.376A>C	c.(376-378)Atg>Ctg	p.M126L	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.M126L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	126					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						GTGTCTGGCATGCTCTGCACA	0.552																																						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.(376-378)Atg>Ctg		T-cell lymphoma invasion and metastasis 1							93	77	83					21																	32638913		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.chr21:32638913T>G		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.376A>C	21.37:g.32638913T>G	ENSP00000286827:p.Met126Leu		Somatic				TIAM1_ENST00000541036.1_Missense_Mutation_p.M126L|TIAM1_ENST00000469412.1_Intron	p.M126L	NM_003253.2	NP_003244.2	WXS	Illumina GAIIx	Phase_I	Q13009	TIAM1_HUMAN			5	847	-			126					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.376A>C	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.602289	0.46423	.	.	ENSG00000156299	ENST00000286827;ENST00000541036;ENST00000455508	T;T	0.39229	1.11;1.09	5.59	3.24	0.37175	.	0.099482	0.64402	D	0.000002	T	0.32852	0.0843	L	0.44542	1.39	0.38902	D	0.957347	B;B;B	0.26708	0.157;0.098;0.098	B;B;B	0.22386	0.039;0.017;0.017	T	0.12372	-1.0550	10	0.46703	T	0.11	.	9.7423	0.40427	0.0:0.1403:0.0:0.8597	.	126;126;126	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	L	126	ENSP00000286827:M126L;ENSP00000441570:M126L	ENSP00000286827:M126L	M	-	1	0	TIAM1	31560784	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.725000	0.25970	0.410000	0.25675	0.482000	0.46254	ATG		0.552	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		44	60	0	0	0	1	0	44	60					G	32638913	T	G	32638913	3	3	48	1	0	0	0	0	1	0	0	0	15905	1464	51	4	4499	4	TIAM1	21	32638913	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	519622	32638913	15490982	4278	8746										
HUNK	30811	broad.mit.edu	37	chr21	33346944	33346944	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttacaagaacagcgacgtgaTcaacactgtgctctccaacc	7	13	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:33346944T>C	ENST00000270112.2	+	7	1448	c.1088T>C	c.(1087-1089)aTc>aCc	p.I363T	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	363					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						AGCGACGTGATCAACACTGTG	0.542																																						ENST00000270112.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(1087-1089)aTc>aCc		hormonally up-regulated Neu-associated kinase							119	103	108					21																	33346944		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33346944T>C	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.1088T>C	21.37:g.33346944T>C	ENSP00000270112:p.Ile363Thr		Somatic				HUNK_ENST00000465574.1_3'UTR	p.I363T	NM_014586.1	NP_055401.1	WXS	Illumina GAIIx	Phase_I	P57058	HUNK_HUMAN			7	1448	+			363						Missense_Mutation	SNP	ENST00000270112.2	37	c.1088T>C	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.579981	0.46006	.	.	ENSG00000142149	ENST00000270112	T	0.70516	-0.49	4.51	4.51	0.55191	.	0.126578	0.52532	D	0.000061	T	0.52980	0.1768	N	0.19112	0.55	0.53005	D	0.999965	B	0.18310	0.027	B	0.18263	0.021	T	0.49000	-0.8984	10	0.09084	T	0.74	-15.9659	14.3142	0.66437	0.0:0.0:0.0:1.0	.	363	P57058	HUNK_HUMAN	T	363	ENSP00000270112:I363T	ENSP00000270112:I363T	I	+	2	0	HUNK	32268815	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.018000	0.76406	2.029000	0.59856	0.459000	0.35465	ATC		0.542	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		16	92	0	0	0	1	0	16	92					C	33346944	T	C	33346944	3	2	48	1	0	0	0	0	1	0	0	0	7467	1435	50	4	1114	4	HUNK	21	33346944	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	708031	33346944	14782951	4279	8747										
C21orf63	59271	broad.mit.edu	37	chr21	33829907	33829907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctaccctctccttctagaaGgtgctggacgaatgccagaa	9	12	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:33829907G>T	ENST00000300255.2	+	3	833	c.360G>T	c.(358-360)aaG>aaT	p.K120N	EVA1C_ENST00000382699.3_Missense_Mutation_p.K120N|EVA1C_ENST00000401402.3_Missense_Mutation_p.K120N	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	120	SUEL-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00260}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										CCTTCTAGAAGGTGCTGGACG	0.557																																						ENST00000300255.2																			0											c.(358-360)aaG>aaT		eva-1 homolog C (C. elegans)							95	85	89					21																	33829907		2203	4300	6503	SO:0001583	missense	59271							g.chr21:33829907G>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.360G>T	21.37:g.33829907G>T	ENSP00000300255:p.Lys120Asn		Somatic				EVA1C_ENST00000382699.3_Missense_Mutation_p.K120N|EVA1C_ENST00000401402.3_Missense_Mutation_p.K120N	p.K120N	NM_058187.3	NP_478067.2	WXS	Illumina GAIIx	Phase_I					3	833	+								A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	c.360G>T	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944728	0.73672	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699;ENST00000412833	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	5.07	1.81	0.25067	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	M	0.85710	2.77	0.49915	D	0.999837	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.11084	-1.0602	10	0.54805	T	0.06	-3.5426	5.481	0.16723	0.6005:0.0:0.3995:0.0	.	120;120;120	A6ND58;P58658;B5MC74	.;CU063_HUMAN;.	N	120;120;120;25	ENSP00000300255:K120N;ENSP00000384594:K120N;ENSP00000372146:K120N;ENSP00000389269:K25N	ENSP00000300255:K120N	K	+	3	2	C21orf63	32751778	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.626000	0.54245	0.537000	0.28751	0.462000	0.41574	AAG		0.557	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187		33	43	1	0	3.11337e-16	1	4.1367e-16	33	43					T	33829907	G	T	33829907	3	4	48	1	0	0	0	0	1	0	0	0	2133	991	35	5	370	5	C21orf63	21	33829907	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	482963	33829907	14299988	4280	8748										
TCP10L	140290	broad.mit.edu	37	chr21	33949164	33949164	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcttgacgtctcctggaaaGatttttatctctattttcct	6	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:33949164G>T	ENST00000300258.3	-	5	681	c.568C>A	c.(568-570)Ctt>Att	p.L190I	TCP10L_ENST00000472557.1_Missense_Mutation_p.L104I|LINC00846_ENST00000334165.4_lincRNA	NM_144659.5	NP_653260.1	Q8TDR4	TCP1L_HUMAN	t-complex 10-like	190					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	protein self-association (GO:0043621)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)			breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						CTCCTGGAAAGATTTTTATCT	0.448																																						ENST00000300258.3																			0				breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						c.(568-570)Ctt>Att		t-complex 10-like							122	112	115					21																	33949164		2203	4300	6503	SO:0001583	missense	140290							g.chr21:33949164G>T	AF115967	CCDS13616.1	21p22.11	2012-09-20	2012-09-20		ENSG00000242220	ENSG00000242220			11657	protein-coding gene	gene with protein product		608365	"t-complex 10 (a murine tcp homolog)-like", "t-complex 10 (mouse)-like"			10830953	Standard	NM_144659		Approved	PRED77		Q8TDR4	OTTHUMG00000064901	ENST00000300258.3:c.568C>A	21.37:g.33949164G>T	ENSP00000300258:p.Leu190Ile		Somatic				TCP10L_ENST00000491828.1_5'UTR	p.L190I	NM_144659.5	NP_653260.1	WXS	Illumina GAIIx	Phase_I					5	681	-								Q53EW0|Q96LN5	Missense_Mutation	SNP	ENST00000300258.3	37	c.568C>A	CCDS13616.1	.	.	.	.	.	.	.	.	.	.	G	2.662	-0.279543	0.05642	.	.	ENSG00000242220	ENST00000300258	T	0.23754	1.89	0.361	0.361	0.16107	.	.	.	.	.	T	0.17365	0.0417	L	0.48642	1.525	0.09310	N	1	P	0.40476	0.718	B	0.32465	0.146	T	0.12734	-1.0536	8	0.44086	T	0.13	.	.	.	.	.	190	Q8TDR4	TCP1L_HUMAN	I	190	ENSP00000300258:L190I	ENSP00000300258:L190I	L	-	1	0	TCP10L	32871035	0.025000	0.19082	0.003000	0.11579	0.003000	0.03518	-0.011000	0.12721	0.406000	0.25560	0.411000	0.27672	CTT		0.448	TCP10L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139350.1	NM_144659		31	52	1	0	2.70662e-09	1	3.24368e-09	31	52					T	33949164	G	T	33949164	3	4	48	1	0	0	0	0	1	0	0	0	15726	942	33	2	83	2	TCP10L	21	33949164	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	119257	33949164	14180731	4281	8749										
SYNJ1	8867	broad.mit.edu	37	chr21	34003475	34003475	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttattccagtcatcattcaAtgtcaggttggagccagaaa	8	8	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34003475A>C	ENST00000322229.7	-	31	4551	c.4552T>G	c.(4552-4554)Ttg>Gtg	p.L1518V	SYNJ1_ENST00000433931.2_Missense_Mutation_p.L1557V|SYNJ1_ENST00000382491.3_Missense_Mutation_p.L1471V|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000357345.3_3'UTR			O43426	SYNJ1_HUMAN	synaptojanin 1	1518	Pro-rich.				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						TCATCATTCAATGTCAGGTTG	0.493																																						ENST00000382491.3																			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.(4411-4413)Ttg>Gtg		synaptojanin 1							130	123	126					21																	34003475		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34003475A>C	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.4552T>G	21.37:g.34003475A>C	ENSP00000322234:p.Leu1518Val		Somatic				SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.L1557V|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.L1518V	p.L1471V	NM_001160306.1	NP_001153778.1	WXS	Illumina GAIIx	Phase_I	O43426	SYNJ1_HUMAN			28	4535	-			1518			Pro-rich.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.4411T>G	CCDS54484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.64|12.64	1.998713|1.998713	0.35226|0.35226	.|.	.|.	ENSG00000159082|ENSG00000159082	ENST00000479254;ENST00000490462;ENST00000478228|ENST00000382491;ENST00000433931;ENST00000322229	.|T;T;T	.|0.27256	.|1.68;1.68;1.68	4.59|4.59	-0.655|-0.655	0.11439|0.11439	.|.	.|0.584388	.|0.15725	.|N	.|0.247725	T|T	0.13798|0.13798	0.0334|0.0334	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.12630	.|0.006	.|B	.|0.15870	.|0.014	T|T	0.16660|0.16660	-1.0395|-1.0395	5|10	.|0.54805	.|T	.|0.06	.|.	4.9296|4.9296	0.13910|0.13910	0.5431:0.0:0.3247:0.1322|0.5431:0.0:0.3247:0.1322	.|.	.|1518	.|O43426	.|SYNJ1_HUMAN	Q|V	32|1471;1557;1518	.|ENSP00000371931:L1471V;ENSP00000409667:L1557V;ENSP00000322234:L1518V	.|ENSP00000322234:L1518V	H|L	-|-	3|1	2|2	SYNJ1|SYNJ1	32925346|32925346	0.005000|0.005000	0.15991|0.15991	0.004000|0.004000	0.12327|0.12327	0.753000|0.753000	0.42808|0.42808	0.444000|0.444000	0.21661|0.21661	-0.133000|-0.133000	0.11537|0.11537	0.533000|0.533000	0.62120|0.62120	CAT|TTG		0.493	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				16	72	0	0	0	1	0	16	72					C	34003475	A	C	34003475	3	2	48	1	0	0	0	0	1	0	0	0	15467	98	4	4	173	4	SYNJ1	21	34003475	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	54311	34003475	14126420	4282	8750										
SYNJ1	8867	broad.mit.edu	37	chr21	34045776	34045776	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaggttccgacacatactcGaattttcttaggctttgaat	7	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34045776G>A	ENST00000322229.7	-	13	1599	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.R573*|SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.R529*|SYNJ1_ENST00000382499.2_Nonsense_Mutation_p.R573*|SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.R534*			O43426	SYNJ1_HUMAN	synaptojanin 1	534	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.R534*(2)		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						ACACATACTCGAATTTTCTTA	0.388																																						ENST00000382499.2																			2	Substitution - Nonsense(2)	p.R534*(2)	large_intestine(2)	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.(1717-1719)Cga>Tga		synaptojanin 1							95	91	92					21																	34045776		2203	4300	6503	SO:0001587	stop_gained	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34045776G>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.1600C>T	21.37:g.34045776G>A	ENSP00000322234:p.Arg534*		Somatic				SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.R534*|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.R573*|SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.R529*|SYNJ1_ENST00000322229.7_Nonsense_Mutation_p.R534*	p.R573*	NM_203446.2	NP_982271.2	WXS	Illumina GAIIx	Phase_I	O43426	SYNJ1_HUMAN			14	1716	-			534			Catalytic (Potential).		O43425|O94984|Q4KMR1	Nonsense_Mutation	SNP	ENST00000322229.7	37	c.1717C>T	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	37	6.465883	0.97590	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	.	.	.	5.25	4.36	0.52297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4524	0.75282	0.0:0.0:0.8599:0.1401	.	.	.	.	X	529;534;573;573;534;529	.	ENSP00000322234:R534X	R	-	1	2	SYNJ1	32967647	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	4.743000	0.62110	1.336000	0.45506	0.460000	0.39030	CGA		0.388	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				14	26	0	0	0	1	0	14	26					A	34045776	G	A	34045776	4	1	48	1	0	0	0	0	0	1	0	0	15467	1066	37	1	3222	1	SYNJ1	21	34045776	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	42301	34045776	14084119	4283	8751										
GART	2618	broad.mit.edu	37	chr21	34889392	34889392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggctttgacatgtcctgaacGtaggacaggtaacagtgaat	12	7	0	3	rs200921953		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34889392G>A	ENST00000381831.3	-	16	2274	c.2011C>T	c.(2011-2013)Cgt>Tgt	p.R671C	GART_ENST00000381815.4_Missense_Mutation_p.R671C|GART_ENST00000543717.1_Missense_Mutation_p.R223C|GART_ENST00000381839.3_Missense_Mutation_p.R671C	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	671	AIRS.				'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)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TGTCCTGAACGTAGGACAGGT	0.448													G|||	1	0.000199681	8e-04	0	5008	,	,		20023	0		0	False		,,,				2504	0					ENST00000381831.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.(2011-2013)Cgt>Tgt		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)						127	120	122					21																	34889392		2203	4300	6503	SO:0001583	missense	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.chr21:34889392G>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.2011C>T	21.37:g.34889392G>A	ENSP00000371253:p.Arg671Cys		Somatic				GART_ENST00000543717.1_Missense_Mutation_p.R223C|GART_ENST00000381815.4_Missense_Mutation_p.R671C|GART_ENST00000381839.3_Missense_Mutation_p.R671C	p.R671C	NM_001136005.1	NP_001129477.1	WXS	Illumina GAIIx	Phase_I	P22102	PUR2_HUMAN			16	2274	-			671			AIRS.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	c.2011C>T	CCDS13627.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	23.4	4.413822	0.83449	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.12	5.12	0.69794	AIR synthase-related protein, C-terminal (2);	0.056217	0.64402	D	0.000001	T	0.47710	0.1460	M	0.83384	2.64	0.80722	D	1	P	0.38129	0.619	P	0.46275	0.51	T	0.53872	-0.8377	10	0.72032	D	0.01	-13.0676	13.5405	0.61671	0.0:0.0:0.8443:0.1557	.	671	P22102	PUR2_HUMAN	C	671;671;671;223	ENSP00000371236:R671C;ENSP00000371253:R671C;ENSP00000371261:R671C;ENSP00000443579:R223C	ENSP00000371236:R671C	R	-	1	0	GART	33811262	1.000000	0.71417	0.970000	0.41538	0.983000	0.72400	6.222000	0.72249	2.376000	0.81061	0.462000	0.41574	CGT		0.448	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		5	93	0	0	0	1	0	5	93					A	34889392	G	A	34889392	3	1	48	1	0	0	0	0	1	0	0	0	6251	1145	40	1	1049	1	GART	21	34889392	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	843616	34889392	13240503	4284	8752										
SON	6651	broad.mit.edu	37	chr21	34921873	34921873	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaaagtcaaagaagcataaAaagcacaaaaacaaaaagaa	5	5	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34921873A>C	ENST00000356577.4	+	3	811	c.336A>C	c.(334-336)aaA>aaC	p.K112N	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.K112N|SON_ENST00000381679.4_Missense_Mutation_p.K112N|SON_ENST00000300278.4_Missense_Mutation_p.K112N	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	112					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						AGAAGCATAAAAAGCACaaaa	0.328											OREG0003562	type=REGULATORY REGION|Gene=AK091233|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.(334-336)aaA>aaC		SON DNA binding protein							25	27	26					21																	34921873		2202	4299	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.chr21:34921873A>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.336A>C	21.37:g.34921873A>C	ENSP00000348984:p.Lys112Asn		Somatic	OREG0003562	type=REGULATORY REGION|Gene=AK091233|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	851	SON_ENST00000290239.6_Missense_Mutation_p.K112N|SON_ENST00000381679.4_Missense_Mutation_p.K112N|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.K112N	p.K112N	NM_138927.1	NP_620305.1	WXS	Illumina GAIIx	Phase_I	P18583	SON_HUMAN			3	811	+			112					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.336A>C	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.712195	0.68730	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000008	T	0.30417	0.0764	L	0.29908	0.895	0.32243	N	0.572382	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	T	0.31194	-0.9952	10	0.87932	D	0	.	13.7654	0.62992	1.0:0.0:0.0:0.0	.	112;112;112	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	N	112	ENSP00000348984:K112N;ENSP00000290239:K112N;ENSP00000300278:K112N;ENSP00000371095:K112N	ENSP00000290239:K112N	K	+	3	2	SON	33843743	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.278000	0.43426	2.326000	0.78906	0.533000	0.62120	AAA		0.328	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		11	18	0	0	0	1	0	11	18					C	34921873	A	C	34921873	3	2	48	1	0	0	0	0	1	0	0	0	14941	11	1	4	346	4	SON	21	34921873	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	32481	34921873	13208022	4285	8753										
SON	6651	broad.mit.edu	37	chr21	34927011	34927011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agactcttcattaagatctcGaagtaagcgttccaaatctt	6	9	4	2	rs372837748		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34927011G>A	ENST00000356577.4	+	3	5949	c.5474G>A	c.(5473-5475)cGa>cAa	p.R1825Q	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.R1825Q|SON_ENST00000381679.4_Missense_Mutation_p.R1825Q|SON_ENST00000300278.4_Missense_Mutation_p.R1825Q	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1825					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						TTAAGATCTCGAAGTAAGCGT	0.393																																						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.(5473-5475)cGa>cAa		SON DNA binding protein							83	85	84					21																	34927011		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.chr21:34927011G>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.5474G>A	21.37:g.34927011G>A	ENSP00000348984:p.Arg1825Gln		Somatic				SON_ENST00000290239.6_Missense_Mutation_p.R1825Q|SON_ENST00000381679.4_Missense_Mutation_p.R1825Q|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.R1825Q	p.R1825Q	NM_138927.1	NP_620305.1	WXS	Illumina GAIIx	Phase_I	P18583	SON_HUMAN			3	5949	+			1825					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.5474G>A	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.30|16.30	3.084669|3.084669	0.55861|0.55861	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	.|T;T;T;T	.|0.19250	.|2.16;2.16;2.16;2.16	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.42548	.|D	.|0.000695	T|T	0.46386|0.46386	0.1390|0.1390	L|L	0.56769|0.56769	1.78|1.78	0.39909|0.39909	D|D	0.974005|0.974005	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.85130	.|0.997;0.992;0.992;0.996;0.996	T|T	0.39522|0.39522	-0.9610|-0.9610	5|10	.|0.66056	.|D	.|0.02	.|.	19.7329|19.7329	0.96190|0.96190	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1825;1825;1506;1825;1825	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	K|Q	820|1825	.|ENSP00000348984:R1825Q;ENSP00000290239:R1825Q;ENSP00000300278:R1825Q;ENSP00000371095:R1825Q	.|ENSP00000290239:R1825Q	E|R	+|+	1|2	0|0	SON|SON	33848881|33848881	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.818000|3.818000	0.55678|0.55678	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.393	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		28	54	0	0	0	1	0	28	54					A	34927011	G	A	34927011	3	1	48	1	0	0	0	0	1	0	0	0	14941	1058	37	1	5484	1	SON	21	34927011	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5138	34927011	13202884	4286	8754										
SON	6651	broad.mit.edu	37	chr21	34948145	34948145	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaaggtggcaaccacctgaAtttctattggtccatgatag	10	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34948145A>G	ENST00000356577.4	+	11	7642	c.7167A>G	c.(7165-7167)gaA>gaG	p.E2389E	SON_ENST00000381692.2_Silent_p.E417E|SON_ENST00000290239.6_3'UTR|DONSON_ENST00000303113.6_Intron|SON_ENST00000470533.1_3'UTR|AP000304.1_ENST00000595468.1_5'Flank	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2389	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				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						AACCACCTGAATTTCTATTGG	0.358																																						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.(7165-7167)gaA>gaG		SON DNA binding protein							66	66	66					21																	34948145		2203	4300	6503	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34948145A>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.7167A>G	21.37:g.34948145A>G			Somatic				SON_ENST00000470533.1_3'UTR|SON_ENST00000290239.6_3'UTR|DONSON_ENST00000303113.6_Intron|SON_ENST00000381692.2_Silent_p.E417E|AP000304.2_ENST00000439593.1_RNA	p.E2389E	NM_138927.1	NP_620305.1	WXS	Illumina GAIIx	Phase_I	P18583	SON_HUMAN			11	7642	+			2389			DRBM.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.7167A>G	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	A	2.110	-0.404070	0.04832	.	.	ENSG00000159140	ENST00000436227	.	.	.	5.56	4.4	0.53042	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54268	-0.8319	4	.	.	.	.	7.6402	0.28290	0.7575:0.0:0.2425:0.0	.	.	.	.	S	1384	.	.	N	+	2	0	SON	33870015	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	0.936000	0.28938	0.945000	0.37605	0.528000	0.53228	AAT		0.358	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		18	18	0	0	0	1	0	18	18					G	34948145	A	G	34948145	2	3	48	1	0	0	0	0	0	0	0	1	14941	98	4	4		4	SON	21	34948145	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	21134	34948145	13181750	4287	8755										
RUNX1	861	broad.mit.edu	37	chr21	36259341	36259341	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcaacgcctcgctcatcttGcctgggctcagcgcggtgga	14	14	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:36259341G>C	ENST00000344691.4	-	1	1646	c.69C>G	c.(67-69)ggC>ggG	p.G23G	RUNX1_ENST00000437180.1_Silent_p.G50G|RUNX1_ENST00000300305.3_Silent_p.G50G|RUNX1_ENST00000486278.2_Silent_p.G26G|RUNX1_ENST00000399240.1_Silent_p.G23G|RUNX1_ENST00000358356.5_Silent_p.G23G|RUNX1_ENST00000325074.5_Silent_p.G38G	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	23					behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.F40fs*14(1)|p.R38fs*16(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CGCTCATCTTGCCTGGGCTCA	0.692			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"																																	ENST00000344691.4				Dom	yes		21	21q22.3	861	T	runt-related transcription factor 1  (AML1)			L	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"		"AML, preB- ALL, T-ALL"		2	Deletion - Frameshift(2)	p.F40fs*14(1)|p.R38fs*16(1)	haematopoietic_and_lymphoid_tissue(2)	breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						c.(67-69)ggC>ggG		runt-related transcription factor 1							13	16	15					21																	36259341		2167	4221	6388	SO:0001819	synonymous_variant	861				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36259341G>C	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"aml1 oncogene"	151385	"acute myeloid leukemia 1"	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.69C>G	21.37:g.36259341G>C			Somatic				RUNX1_ENST00000399240.1_Silent_p.G23G|RUNX1_ENST00000358356.5_Silent_p.G23G|RUNX1_ENST00000437180.1_Silent_p.G50G|RUNX1_ENST00000325074.5_Silent_p.G38G|RUNX1_ENST00000486278.2_Silent_p.G26G|RUNX1_ENST00000300305.3_Silent_p.G50G	p.G23G	NM_001001890.2	NP_001001890.1	WXS	Illumina GAIIx	Phase_I	Q01196	RUNX1_HUMAN			1	1646	-			23					A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Silent	SNP	ENST00000344691.4	37	c.69C>G	CCDS42922.1																																																																																				0.692	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			13	25	0	0	0	1	0	13	25					C	36259341	G	C	36259341	2	2	48	1	0	0	0	0	0	0	0	1	13761	1306	46	5		5	RUNX1	21	36259341	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1311196	36259341	11870554	4288	8756										
SETD4	54093	broad.mit.edu	37	chr21	37431146	37431146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagaacttccgcagagttttCgtcttctgatccggcttgtt	9	11	2	3	rs200964253		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:37431146C>T	ENST00000399215.1	-	1	1413	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	SETD4_ENST00000399207.1_Missense_Mutation_p.R14Q|SETD4_ENST00000399205.1_5'UTR|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399208.2_Missense_Mutation_p.R14Q|SETD4_ENST00000399212.1_5'UTR|SETD4_ENST00000399201.1_5'UTR|SETD4_ENST00000332131.4_Missense_Mutation_p.R14Q|AP000688.11_ENST00000436303.1_RNA			Q9NVD3	SETD4_HUMAN	SET domain containing 4	14							methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						GCAGAGTTTTCGTCTTCTGAT	0.348													C|||	1	0.000199681	0	0.0014	5008	,	,		18441	0		0	False		,,,				2504	0					ENST00000399215.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						c.(40-42)cGa>cAa		SET domain containing 4							211	216	215					21																	37431146		2203	4300	6503	SO:0001583	missense	54093							g.chr21:37431146C>T	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 27", "chromosome 21 open reading frame 18"	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.41G>A	21.37:g.37431146C>T	ENSP00000382163:p.Arg14Gln		Somatic				SETD4_ENST00000399207.1_Missense_Mutation_p.R14Q|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Missense_Mutation_p.R14Q|SETD4_ENST00000399212.1_5'UTR|SETD4_ENST00000399208.2_Missense_Mutation_p.R14Q|SETD4_ENST00000399201.1_5'UTR|SETD4_ENST00000399205.1_5'UTR	p.R14Q			WXS	Illumina GAIIx	Phase_I	Q9NVD3	SETD4_HUMAN			1	1413	-			14					B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	ENST00000399215.1	37	c.41G>A	CCDS13640.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.64	3.439950	0.63067	.	.	ENSG00000185917	ENST00000399215;ENST00000332131;ENST00000399208;ENST00000399207;ENST00000424303;ENST00000429161;ENST00000443703	T;T;T;T	0.25912	2.05;2.05;1.77;1.77	5.42	4.53	0.55603	.	0.119054	0.52532	N	0.000064	T	0.29620	0.0739	L	0.56769	1.78	0.45076	D	0.998098	D;P	0.54207	0.965;0.89	P;B	0.46718	0.525;0.186	T	0.03443	-1.1036	10	0.35671	T	0.21	-10.7167	10.3206	0.43764	0.0:0.9085:0.0:0.0915	.	14;14	C9JWV5;Q9NVD3	.;SETD4_HUMAN	Q	14	ENSP00000382163:R14Q;ENSP00000329189:R14Q;ENSP00000382159:R14Q;ENSP00000382158:R14Q	ENSP00000329189:R14Q	R	-	2	0	SETD4	36353016	0.309000	0.24518	0.630000	0.29268	0.438000	0.31896	0.427000	0.21379	1.411000	0.46957	0.650000	0.86243	CGA		0.348	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		31	74	0	0	0	1	0	31	74					T	37431146	C	T	37431146	3	4	48	1	0	0	0	0	1	0	0	0	14148	884	31	1	1344	1	SETD4	21	37431146	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1171805	37431146	10698749	4289	8757										
DOPEY2	9980	broad.mit.edu	37	chr21	37626108	37626108	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcatcccagctaacccttgtCgacttggtgtgtgcactcag	10	13	1	0	rs531724096		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:37626108C>T	ENST00000399151.3	+	23	5245	c.5160C>T	c.(5158-5160)gtC>gtT	p.V1720V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1720					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						TAACCCTTGTCGACTTGGTGT	0.493													C|||	1	0.000199681	0	0	5008	,	,		17923	0		0	False		,,,				2504	0.001					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.(5158-5160)gtC>gtT		dopey family member 2							140	133	136					21																	37626108		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37626108C>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.5160C>T	21.37:g.37626108C>T			Somatic					p.V1720V	NM_005128.2	NP_005119.2	WXS	Illumina GAIIx	Phase_I	Q9Y3R5	DOP2_HUMAN			23	5245	+			1720					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.5160C>T	CCDS13643.1																																																																																				0.493	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		40	78	0	0	0	1	0	40	78					T	37626108	C	T	37626108	2	4	48	1	0	0	0	0	0	0	0	1	4710	871	31	1		1	DOPEY2	21	37626108	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	194962	37626108	10503787	4290	8758										
TTC3	7267	broad.mit.edu	37	chr21	38538603	38538603	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcctgaatatcagctaccaAgatcagtaccagtggtgccg	9	12	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:38538603A>C	ENST00000399017.2	+	33	6834	c.4087A>C	c.(4087-4089)Aga>Cga	p.R1363R	TTC3_ENST00000355666.1_Silent_p.R1363R|TTC3_ENST00000354749.2_Silent_p.R1363R|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1363					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TCAGCTACCAAGATCAGTACC	0.468																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(4087-4089)Aga>Cga		tetratricopeptide repeat domain 3							91	88	89					21																	38538603		2203	4300	6503	SO:0001819	synonymous_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38538603A>C	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.4087A>C	21.37:g.38538603A>C			Somatic				TTC3_ENST00000354749.2_Silent_p.R1363R|TTC3_ENST00000355666.1_Silent_p.R1363R|TTC3_ENST00000479930.1_3'UTR	p.R1363R	NM_003316.3	NP_003307.3	WXS	Illumina GAIIx	Phase_I	P53804	TTC3_HUMAN			33	6834	+		Myeloproliferative disorder(46;0.0412)	1363					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	c.4087A>C	CCDS13651.1																																																																																				0.468	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			41	71	0	0	0	1	0	41	71					C	38538603	A	C	38538603	2	2	48	1	0	0	0	0	0	0	0	1	16712	64	3	4		4	TTC3	21	38538603	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	912495	38538603	9591292	4291	8759										
ERG	2078	broad.mit.edu	37	chr21	39775498	39775498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggggtgagcctctggaagtcGtccttggtcatcttgcacag	14	10	3	1	rs372583032		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:39775498G>A	ENST00000417133.2	-	6	728	c.543C>T	c.(541-543)gaC>gaT	p.D181D	ERG_ENST00000398907.1_Silent_p.D174D|ERG_ENST00000398919.2_Silent_p.D181D|ERG_ENST00000398897.1_Silent_p.D82D|ERG_ENST00000288319.7_Silent_p.D174D|ERG_ENST00000398910.1_Silent_p.D181D|ERG_ENST00000453032.2_Silent_p.D82D|ERG_ENST00000429727.2_Intron|ERG_ENST00000398905.1_Silent_p.D174D|ERG_ENST00000442448.1_Silent_p.D181D|ERG_ENST00000398911.1_Silent_p.D181D	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0			R -> Q (in dbSNP:rs41308954).		cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TCTGGAAGTCGTCCTTGGTCA	0.522			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000442448.1				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"M, E, L"	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"		"Ewing sarcoma, prostate, AML"	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(541-543)gaC>gaT		v-ets avian erythroblastosis virus E26 oncogene homolog		G	,,,	0,4406		0,0,2203	199	173	182		543,246,543,522	-5	0.9	21		182	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ERG	NM_001136154.1,NM_001136155.1,NM_004449.4,NM_182918.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	181/487,82/388,181/463,174/480	39775498	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39775498G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.543C>T	21.37:g.39775498G>A			Somatic				ERG_ENST00000417133.2_Silent_p.D181D|ERG_ENST00000398897.1_Silent_p.D82D|ERG_ENST00000398919.2_Silent_p.D181D|ERG_ENST00000453032.2_Silent_p.D82D|ERG_ENST00000288319.7_Silent_p.D174D|ERG_ENST00000398905.1_Silent_p.D174D|ERG_ENST00000429727.2_Intron|ERG_ENST00000398907.1_Silent_p.D174D|ERG_ENST00000398910.1_Silent_p.D181D|ERG_ENST00000398911.1_Silent_p.D181D	p.D181D	NM_004449.4	NP_004440.1	WXS	Illumina GAIIx	Phase_I	P11308	ERG_HUMAN			6	814	-		Prostate(19;3.6e-06)	181			PNT.		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000417133.2	37	c.543C>T	CCDS46648.1																																																																																				0.522	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		31	52	0	0	0	1	0	31	52					A	39775498	G	A	39775498	2	1	48	1	0	0	0	0	0	0	0	1	5224	1136	40	1		1	ERG	21	39775498	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1236895	39775498	8354397	4292	8760										
BRWD1	54014	broad.mit.edu	37	chr21	40636553	40636553	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttgctcatctaagacataaTtattagaatctctaataagt	4	6	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:40636553T>G	ENST00000333229.2	-	17	2045	c.1718A>C	c.(1717-1719)aAt>aCt	p.N573T	BRWD1_ENST00000380800.3_Missense_Mutation_p.N573T|BRWD1_ENST00000342449.3_Missense_Mutation_p.N573T	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	573					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)				TAAGACATAATTATTAGAATC	0.383																																					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.(1717-1719)aAt>aCt		bromodomain and WD repeat domain containing 1							58	59	58					21																	40636553		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40636553T>G	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.1718A>C	21.37:g.40636553T>G	ENSP00000330753:p.Asn573Thr		Somatic				BRWD1_ENST00000380800.3_Missense_Mutation_p.N573T|BRWD1_ENST00000333229.2_Missense_Mutation_p.N573T	p.N573T	NM_033656.3	NP_387505.1	WXS	Illumina GAIIx	Phase_I	Q9NSI6	BRWD1_HUMAN			17	1796	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	573					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.1718A>C	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.59|17.59	3.428188|3.428188	0.62844|0.62844	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800|ENST00000455867	T;T;T|.	0.45276|.	0.9;0.9;0.9|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.074640|.	0.56097|.	D|.	0.000034|.	T|.	0.76695|.	0.4023|.	M|M	0.80847|0.80847	2.515|2.515	0.80722|0.80722	D|D	1|1	P;D;D;D|.	0.89917|.	0.915;0.978;1.0;0.999|.	B;P;D;D|.	0.91635|.	0.395;0.672;0.999;0.915|.	T|.	0.78518|.	-0.2173|.	10|.	0.72032|.	D|.	0.01|.	-14.5777|-14.5777	15.3539|15.3539	0.74412|0.74412	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	284;284;573;573|.	Q5R2U6;Q5R2U8;Q9NSI6-2;Q9NSI6|.	.;.;.;BRWD1_HUMAN|.	T|Y	573|284	ENSP00000330753:N573T;ENSP00000344333:N573T;ENSP00000370178:N573T|.	ENSP00000330753:N573T|.	N|X	-|-	2|3	0|2	BRWD1|BRWD1	39558423|39558423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.921000|2.921000	0.48852|0.48852	2.043000|2.043000	0.60533|0.60533	0.533000|0.533000	0.62120|0.62120	AAT|TAA		0.383	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		5	23	0	0	0	1	0	5	23					G	40636553	T	G	40636553	3	3	48	1	0	0	0	0	1	0	0	0	1527	1493	52	4	5587	4	BRWD1	21	40636553	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	861055	40636553	7493342	4293	8761										
IGSF5	150084	broad.mit.edu	37	chr21	41151135	41151135	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcaccatgcttctgacgccGacgtgtactcttacaatacg	9	13	2	1	rs200284688		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41151135G>A	ENST00000380588.4	+	5	940	c.837G>A	c.(835-837)ccG>ccA	p.P279P	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	279					single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TTCTGACGCCGACGTGTACTC	0.483													G|||	1	0.000199681	0	0	5008	,	,		16364	0.001		0	False		,,,				2504	0					ENST00000380588.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23						c.(835-837)ccG>ccA		immunoglobulin superfamily, member 5							107	98	101					21																	41151135		2203	4300	6503	SO:0001819	synonymous_variant	150084					integral to membrane|tight junction		g.chr21:41151135G>A		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5952	protein-coding gene	gene with protein product	"junctional adhesion molecule 4"	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.837G>A	21.37:g.41151135G>A			Somatic				IGSF5_ENST00000479378.1_3'UTR	p.P279P	NM_001080444.1	NP_001073913.1	WXS	Illumina GAIIx	Phase_I	Q9NSI5	IGSF5_HUMAN			5	940	+		Prostate(19;5.35e-06)	279						Silent	SNP	ENST00000380588.4	37	c.837G>A	CCDS33562.1																																																																																				0.483	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			26	41	0	0	0	1	0	26	41					A	41151135	G	A	41151135	2	1	48	1	0	0	0	0	0	0	0	1	7611	1045	37	1		1	IGSF5	21	41151135	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	514582	41151135	6978760	4294	8762										
IGSF5	150084	broad.mit.edu	37	chr21	41151230	41151230	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttctgctgtagaagaaaaaGaggtaatttttttgttcatt	8	3	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41151230G>T	ENST00000380588.4	+	5	1035	c.932G>T	c.(931-933)aGa>aTa	p.R311I	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	311					single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R311I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				AGAAGAAAAAGAGGTAATTTT	0.413																																						ENST00000380588.4																			1	Substitution - Missense(1)	p.R311I(1)	large_intestine(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23						c.(931-933)aGa>aTa		immunoglobulin superfamily, member 5							59	53	55					21																	41151230		2203	4300	6503	SO:0001583	missense	150084					integral to membrane|tight junction		g.chr21:41151230G>T		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5952	protein-coding gene	gene with protein product	"junctional adhesion molecule 4"	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.932G>T	21.37:g.41151230G>T	ENSP00000369962:p.Arg311Ile		Somatic				IGSF5_ENST00000479378.1_3'UTR	p.R311I	NM_001080444.1	NP_001073913.1	WXS	Illumina GAIIx	Phase_I	Q9NSI5	IGSF5_HUMAN			5	1035	+		Prostate(19;5.35e-06)	311						Missense_Mutation	SNP	ENST00000380588.4	37	c.932G>T	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	G	5.532	0.283067	0.10458	.	.	ENSG00000183067	ENST00000380588	T	0.06371	3.31	4.24	1.88	0.25563	.	0.552019	0.20487	N	0.091372	T	0.02688	0.0081	N	0.08118	0	0.38994	D	0.959216	B	0.30361	0.277	B	0.25405	0.06	T	0.52139	-0.8615	10	0.42905	T	0.14	-8.0378	3.9995	0.09574	0.6732:0.214:0.1128:0.0	.	311	Q9NSI5	IGSF5_HUMAN	I	311	ENSP00000369962:R311I	ENSP00000369962:R311I	R	+	2	0	IGSF5	40073100	0.998000	0.40836	0.598000	0.28837	0.014000	0.08584	1.160000	0.31761	0.408000	0.25621	-0.302000	0.09304	AGA		0.413	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			9	26	1	0	2.62144e-13	1	3.35237e-13	9	26					T	41151230	G	T	41151230	3	4	48	1	0	0	0	0	1	0	0	0	7611	942	33	2	950	2	IGSF5	21	41151230	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	95	41151230	6978665	4295	8763										
DSCAM	1826	broad.mit.edu	37	chr21	41447035	41447035	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagcacaaacagcagcaagAcccccaccaggatacaggag	11	13	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41447035A>G	ENST00000400454.1	-	27	5294	c.4817T>C	c.(4816-4818)gTc>gCc	p.V1606A		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1606					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)				CAGCAGCAAGACCCCCACCAG	0.582																																					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.(4816-4818)gTc>gCc		Down syndrome cell adhesion molecule							106	121	116					21																	41447035		2115	4228	6343	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41447035A>G	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.4817T>C	21.37:g.41447035A>G	ENSP00000383303:p.Val1606Ala		Somatic					p.V1606A	NM_001389.3	NP_001380.2	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			27	5294	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1606					O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.4817T>C	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	A	6.059	0.379235	0.11466	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.60040	0.22;0.33	5.8	5.8	0.92144	.	0.410374	0.26963	N	0.021602	T	0.34483	0.0899	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15292	-1.0442	10	0.19147	T	0.46	.	10.4901	0.44746	0.928:0.0:0.072:0.0	.	1606	O60469	DSCAM_HUMAN	A	1606;1358	ENSP00000383303:V1606A;ENSP00000385342:V1358A	ENSP00000383303:V1606A	V	-	2	0	DSCAM	40368905	0.046000	0.20272	0.851000	0.33527	0.980000	0.70556	2.603000	0.46266	2.216000	0.71823	0.533000	0.62120	GTC		0.582	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		23	28	0	0	0	1	0	23	28					G	41447035	A	G	41447035	3	3	48	1	0	0	0	0	1	0	0	0	4770	275	10	4	1249	4	DSCAM	21	41447035	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	295805	41447035	6682860	4296	8764										
DSCAM	1826	broad.mit.edu	37	chr21	41559882	41559882	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttaatagcatggcaggaaaaGaaaccagaatcttctctcac	7	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41559882G>T	ENST00000400454.1	-	13	3063	c.2586C>A	c.(2584-2586)ttC>ttA	p.F862L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	862	Ig-like C2-type 9.				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)				GGCAGGAAAAGAAACCAGAAT	0.403																																					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.(2584-2586)ttC>ttA		Down syndrome cell adhesion molecule							110	99	103					21																	41559882		1866	4100	5966	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41559882G>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.2586C>A	21.37:g.41559882G>T	ENSP00000383303:p.Phe862Leu		Somatic					p.F862L	NM_001389.3	NP_001380.2	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			13	3063	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	862			Ig-like C2-type 9.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.2586C>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585521	0.66105	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.65916	-0.18;-0.18	4.74	4.74	0.60224	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	L	0.31926	0.97	0.46749	D	0.999185	D	0.64830	0.994	D	0.78314	0.991	T	0.61946	-0.6958	10	0.11794	T	0.64	.	18.0962	0.89490	0.0:0.0:1.0:0.0	.	862	O60469	DSCAM_HUMAN	L	862;614	ENSP00000383303:F862L;ENSP00000385342:F614L	ENSP00000383303:F862L	F	-	3	2	DSCAM	40481752	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.110000	0.50352	2.309000	0.77851	0.561000	0.74099	TTC		0.403	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		16	26	1	0	2.23348e-06	1	2.50077e-06	16	26					T	41559882	G	T	41559882	3	4	48	1	0	0	0	0	1	0	0	0	4770	933	33	2	3536	2	DSCAM	21	41559882	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	112847	41559882	6570013	4297	8765										
DSCAM	1826	broad.mit.edu	37	chr21	41710160	41710160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccattgttctcaaatgccaCttggcggtggttgaaaggaa	11	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41710160C>T	ENST00000400454.1	-	8	2128	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	551	Ig-like C2-type 6.				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)				TCAAATGCCACTTGGCGGTGG	0.458																																					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.(1651-1653)Gtg>Atg		Down syndrome cell adhesion molecule							172	162	165					21																	41710160		1949	4142	6091	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41710160C>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.1651G>A	21.37:g.41710160C>T	ENSP00000383303:p.Val551Met		Somatic					p.V551M	NM_001389.3	NP_001380.2	WXS	Illumina GAIIx	Phase_I	O60469	DSCAM_HUMAN			8	2128	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	551			Ig-like C2-type 6.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1651G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658680	0.67586	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.70164	-0.46;-0.46	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.145437	0.47455	D	0.000221	T	0.72137	0.3423	L	0.39245	1.2	0.39951	D	0.974546	D	0.57257	0.979	P	0.55222	0.771	T	0.70883	-0.4751	10	0.39692	T	0.17	.	19.9703	0.97284	0.0:1.0:0.0:0.0	.	551	O60469	DSCAM_HUMAN	M	551;303	ENSP00000383303:V551M;ENSP00000385342:V303M	ENSP00000383303:V551M	V	-	1	0	DSCAM	40632030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.293000	0.51779	2.723000	0.93209	0.655000	0.94253	GTG		0.458	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		26	68	0	0	0	1	0	26	68					T	41710160	C	T	41710160	3	4	48	1	0	0	0	0	1	0	0	0	4770	565	20	3	4491	3	DSCAM	21	41710160	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	150278	41710160	6419735	4298	8766										
FAM3B	54097	broad.mit.edu	37	chr21	42720602	42720602	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attcaggtctagctgggtatTtattgcagcaaaaggcttgg	12	6	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:42720602T>G	ENST00000357985.2	+	7	715	c.569T>G	c.(568-570)tTt>tGt	p.F190C	FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398647.3_Missense_Mutation_p.F142C|FAM3B_ENST00000398652.3_Missense_Mutation_p.F229C|FAM3B_ENST00000398646.3_Missense_Mutation_p.F213C	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	190					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				AGCTGGGTATTTATTGCAGCA	0.418																																						ENST00000398652.3																			0				central_nervous_system(2)|endometrium(1)|lung(2)	5						c.(685-687)tTt>tGt		family with sequence similarity 3, member B							96	89	91					21																	42720602		2203	4300	6503	SO:0001583	missense	54097				apoptosis|insulin secretion	extracellular space	cytokine activity	g.chr21:42720602T>G	AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"pancreatic-derived factor"	608617	"chromosome 21 open reading frame 11"	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.569T>G	21.37:g.42720602T>G	ENSP00000350673:p.Phe190Cys		Somatic				FAM3B_ENST00000398646.3_Missense_Mutation_p.F213C|FAM3B_ENST00000357985.2_Missense_Mutation_p.F190C|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398647.3_Missense_Mutation_p.F142C	p.F229C			WXS	Illumina GAIIx	Phase_I	P58499	FAM3B_HUMAN			8	752	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)	190						Missense_Mutation	SNP	ENST00000357985.2	37	c.686T>G	CCDS13671.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.552015	0.45487	.	.	ENSG00000183844	ENST00000357985;ENST00000398652;ENST00000398647;ENST00000398646	T;T;T;T	0.67698	-0.08;-0.08;-0.28;-0.1	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000001	D	0.83811	0.5335	M	0.91717	3.235	0.45035	D	0.998055	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86723	0.1943	10	0.87932	D	0	.	10.8012	0.46489	0.0:0.0:0.0:1.0	.	213;142;190	A8MTF8;P58499-3;P58499	.;.;FAM3B_HUMAN	C	190;229;142;213	ENSP00000350673:F190C;ENSP00000381646:F229C;ENSP00000381642:F142C;ENSP00000381641:F213C	ENSP00000350673:F190C	F	+	2	0	FAM3B	41642472	0.995000	0.38212	0.395000	0.26283	0.475000	0.33008	4.277000	0.58939	1.810000	0.52873	0.533000	0.62120	TTT		0.418	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195142.1	NM_058186		19	36	0	0	0	1	0	19	36					G	42720602	T	G	42720602	3	3	48	1	0	0	0	0	1	0	0	0	5565	1841	64	4	595	4	FAM3B	21	42720602	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1010442	42720602	5409293	4299	8767										
ZNF295	49854	broad.mit.edu	37	chr21	43412056	43412056	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggtaaacctccttgttttCtactggacttgcaagaggag	10	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:43412056C>T	ENST00000310826.5	-	3	2332	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.E717K|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E717K	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	717					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										TCCTTGTTTTCTACTGGACTT	0.478																																						ENST00000310826.5																			0											c.(2149-2151)Gaa>Aaa		zinc finger and BTB domain containing 21							153	178	169					21																	43412056		2203	4300	6503	SO:0001583	missense	49854							g.chr21:43412056C>T	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2149G>A	21.37:g.43412056C>T	ENSP00000308759:p.Glu717Lys		Somatic				ZBTB21_ENST00000398511.3_Missense_Mutation_p.E717K|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.E717K	p.E717K	NM_001098402.1	NP_001091872.1	WXS	Illumina GAIIx	Phase_I					3	2332	-								Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.2149G>A	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513130	0.27123	.	.	ENSG00000173276	ENST00000310826;ENST00000398499;ENST00000398511	T;T;T	0.07021	3.23;3.23;3.23	5.38	4.48	0.54585	.	0.949026	0.08738	N	0.900965	T	0.09992	0.0245	L	0.44542	1.39	0.09310	N	1	B	0.23058	0.079	B	0.19391	0.025	T	0.41538	-0.9503	10	0.10111	T	0.7	-6.3121	15.8962	0.79336	0.0:0.8642:0.1358:0.0	.	717	Q9ULJ3	ZN295_HUMAN	K	717	ENSP00000308759:E717K;ENSP00000381512:E717K;ENSP00000381523:E717K	ENSP00000308759:E717K	E	-	1	0	ZNF295	42285125	0.206000	0.23470	0.001000	0.08648	0.975000	0.68041	3.287000	0.51732	1.237000	0.43756	0.551000	0.68910	GAA		0.478	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		93	168	0	0	0	1	0	93	168					T	43412056	C	T	43412056	3	4	48	1	0	0	0	0	1	0	0	0	17842	922	32	3	1055	3	ZNF295	21	43412056	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	691454	43412056	4717839	4300	8768										
UMODL1	89766	broad.mit.edu	37	chr21	43531635	43531635	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctacagggaaactccatcaTggagccaccctcctggcctt	9	15	1	0	rs375360386		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:43531635T>C	ENST00000408910.2	+	12	1919	c.1919T>C	c.(1918-1920)aTg>aCg	p.M640T	UMODL1_ENST00000400427.1_Missense_Mutation_p.M696T|C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000408989.2_Missense_Mutation_p.M768T|UMODL1_ENST00000400424.2_Missense_Mutation_p.M568T	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	640					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						AACTCCATCATGGAGCCACCC	0.637																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(2086-2088)aTg>aCg		uromodulin-like 1		T	THR/MET,THR/MET,THR/MET,THR/MET	0,3966		0,0,1983	50	56	54		1919,2087,1703,2303	-9.2	0	21		54	1,8287		0,1,4143	no	missense,missense,missense,missense	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	81,81,81,81	0,1,6126	CC,CT,TT		0.0121,0.0,0.0082	benign,benign,benign,benign	640/1319,696/1375,568/1247,768/1447	43531635	1,12253	1983	4144	6127	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43531635T>C		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.1919T>C	21.37:g.43531635T>C	ENSP00000386147:p.Met640Thr		Somatic				UMODL1_ENST00000408989.2_Missense_Mutation_p.M768T|UMODL1_ENST00000400424.1_Missense_Mutation_p.M568T|UMODL1_ENST00000408910.2_Missense_Mutation_p.M640T	p.M696T	NM_001199527.1	NP_001186456.1	WXS	Illumina GAIIx	Phase_I	Q5DID0	UROL1_HUMAN			11	2483	+			693					C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.2087T>C	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	T	1.580	-0.531916	0.04112	0.0	1.21E-4	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.71698	-0.55;-0.59;-0.55;-0.59	4.6	-9.2	0.00682	.	1.896680	0.02567	N	0.097398	T	0.39118	0.1066	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31613	-0.9937	10	0.13853	T	0.58	-0.8026	1.8583	0.03184	0.201:0.1299:0.1911:0.4781	.	768;640	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	T	696;568;768;640	ENSP00000383279:M696T;ENSP00000383276:M568T;ENSP00000386126:M768T;ENSP00000386147:M640T	ENSP00000383276:M568T	M	+	2	0	UMODL1	42404704	0.060000	0.20803	0.000000	0.03702	0.006000	0.05464	-0.041000	0.12084	-1.755000	0.01320	-0.231000	0.12243	ATG		0.637	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			5	77	0	0	0	1	0	5	77					C	43531635	T	C	43531635	3	2	48	1	0	0	0	0	1	0	0	0	16995	1464	51	4	2345	4	UMODL1	21	43531635	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	119579	43531635	4598260	4301	8769										
UBASH3A	53347	broad.mit.edu	37	chr21	43846924	43846924	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcttagcagcttacaggccTtgcaggtaatagaacattcc	9	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:43846924T>C	ENST00000319294.6	+	8	1196	c.1165T>C	c.(1165-1167)Ttg>Ctg	p.L389L	UBASH3A_ENST00000398367.1_Silent_p.L351L|UBASH3A_ENST00000291535.6_Silent_p.L351L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	389					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						CTTACAGGCCTTGCAGGTAAT	0.448																																						ENST00000319294.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(1165-1167)Ttg>Ctg		ubiquitin associated and SH3 domain containing A							92	85	87					21																	43846924		2203	4300	6503	SO:0001819	synonymous_variant	53347					cytosol|nucleus		g.chr21:43846924T>C	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.1165T>C	21.37:g.43846924T>C			Somatic				UBASH3A_ENST00000398367.1_Silent_p.L351L|UBASH3A_ENST00000291535.6_Silent_p.L351L	p.L389L	NM_018961.3	NP_061834.1	WXS	Illumina GAIIx	Phase_I	P57075	UBS3A_HUMAN			8	1196	+			389					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Silent	SNP	ENST00000319294.6	37	c.1165T>C	CCDS13687.1																																																																																				0.448	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		14	65	0	0	0	1	0	14	65					C	43846924	T	C	43846924	2	2	48	1	0	0	0	0	0	0	0	1	16854	1606	56	4		4	UBASH3A	21	43846924	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	315289	43846924	4282971	4302	8770										
UBASH3A	53347	broad.mit.edu	37	chr21	43862683	43862683	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagagctgaaagaggcaaaTttcaacattgacactgatta	9	6	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:43862683T>G	ENST00000319294.6	+	12	1639	c.1608T>G	c.(1606-1608)aaT>aaG	p.N536K	UBASH3A_ENST00000398367.1_Missense_Mutation_p.N498K|UBASH3A_ENST00000291535.6_Missense_Mutation_p.N498K	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	536	Phosphatase-like.				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						AAGAGGCAAATTTCAACATTG	0.413																																						ENST00000319294.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(1606-1608)aaT>aaG		ubiquitin associated and SH3 domain containing A							109	107	108					21																	43862683		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43862683T>G	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.1608T>G	21.37:g.43862683T>G	ENSP00000317327:p.Asn536Lys		Somatic				UBASH3A_ENST00000398367.1_Missense_Mutation_p.N498K|UBASH3A_ENST00000291535.6_Missense_Mutation_p.N498K	p.N536K	NM_018961.3	NP_061834.1	WXS	Illumina GAIIx	Phase_I	P57075	UBS3A_HUMAN			12	1639	+			536			Phosphatase-like.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.1608T>G	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	T	7.037	0.561855	0.13498	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.71341	-0.56;-0.56;-0.56	4.79	-4.2	0.03823	Histidine phosphatase superfamily, clade-1 (1);	1.740740	0.02707	N	0.112402	T	0.48840	0.1522	N	0.13327	0.33	0.09310	N	0.999998	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.001;0.001;0.003	T	0.33240	-0.9876	10	0.13853	T	0.58	-0.9707	7.4147	0.27038	0.0:0.514:0.1402:0.3458	.	498;498;536	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	K	498;536;498	ENSP00000291535:N498K;ENSP00000317327:N536K;ENSP00000381408:N498K	ENSP00000291535:N498K	N	+	3	2	UBASH3A	42735752	0.001000	0.12720	0.010000	0.14722	0.015000	0.08874	-0.509000	0.06336	-0.339000	0.08401	-0.370000	0.07254	AAT		0.413	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		32	52	0	0	0	1	0	32	52					G	43862683	T	G	43862683	3	3	48	1	0	0	0	0	1	0	0	0	16854	1490	52	4	1654	4	UBASH3A	21	43862683	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	15759	43862683	4267212	4303	8771										
PDE9A	5152	broad.mit.edu	37	chr21	44152236	44152236	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgcagagcagttctcaaggTacagagtcttctaaacttac	8	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:44152236T>C	ENST00000291539.6	+	6	557		c.e6+2		PDE9A_ENST00000398224.3_Splice_Site|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398234.3_Splice_Site|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000335512.4_Splice_Site|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000470987.1_Splice_Site|PDE9A_ENST00000398236.3_Splice_Site|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000328862.6_Splice_Site|PDE9A_ENST00000398227.3_Intron|AP001627.1_ENST00000437426.1_RNA|PDE9A_ENST00000398225.3_Splice_Site|PDE9A_ENST00000398232.3_Splice_Site	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A						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)	GTTCTCAAGGTACAGAGTCTT	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.e6+2		phosphodiesterase 9A							76	72	73					21																	44152236		2203	4300	6503	SO:0001630	splice_region_variant	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.chr21:44152236T>C	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.497+2T>C	21.37:g.44152236T>C			Somatic				PDE9A_ENST00000398225.3_Splice_Site|PDE9A_ENST00000398224.3_Splice_Site|PDE9A_ENST00000398234.3_Splice_Site|PDE9A_ENST00000328862.6_Splice_Site|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398232.3_Splice_Site|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000470987.1_Splice_Site|PDE9A_ENST00000335512.4_Splice_Site|PDE9A_ENST00000398236.3_Splice_Site|PDE9A_ENST00000398229.3_Intron		NM_002606.2	NP_002597.1	WXS	Illumina GAIIx	Phase_I	O76083	PDE9A_HUMAN			6	557	+								B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Splice_Site	SNP	ENST00000291539.6	37		CCDS13690.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.520130	0.27211	.	.	ENSG00000160191	ENST00000335512;ENST00000291539;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000398225;ENST00000398224	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2243	0.59907	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE9A	43025305	1.000000	0.71417	0.993000	0.49108	0.192000	0.23643	3.904000	0.56325	1.933000	0.56026	0.528000	0.53228	.		0.527	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1		Intron	8	19	0	0	0	1	0	8	19					C	44152236	T	C	44152236	5	2	48	1	0	0	0	0	0	0	1	0	11664	1652	57	4	601	4	PDE9A	21	44152236	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	289553	44152236	3977659	4304	8772										
RRP1B	23076	broad.mit.edu	37	chr21	45107839	45107839	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaaaggaagcggaaacttggAgttgtgcccgtcaatggcag	14	7	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:45107839A>G	ENST00000340648.4	+	13	1701	c.1584A>G	c.(1582-1584)ggA>ggG	p.G528G		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	528					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GGAAACTTGGAGTTGTGCCCG	0.632																																						ENST00000340648.4																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21						c.(1582-1584)ggA>ggG		ribosomal RNA processing 1B							42	40	41					21																	45107839		2203	4299	6502	SO:0001819	synonymous_variant	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45107839A>G	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 136"	610654	"KIAA0179", "ribosomal RNA processing 1 homolog B (S. cerevisiae)"	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.1584A>G	21.37:g.45107839A>G			Somatic					p.G528G	NM_015056.2	NP_055871.1	WXS	Illumina GAIIx	Phase_I	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	13	1701	+			528					Q8TBZ4	Silent	SNP	ENST00000340648.4	37	c.1584A>G	CCDS33577.1																																																																																				0.632	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		42	49	0	0	0	1	0	42	49					G	45107839	A	G	45107839	2	3	48	1	0	0	0	0	0	0	0	1	13703	291	11	4		4	RRP1B	21	45107839	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	955603	45107839	3022056	4305	8773										
ICOSLG	23308	broad.mit.edu	37	chr21	45658337	45658337	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccccctgaacttaccagctcGaaggctgctgaagagcagga	11	13	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:45658337G>A	ENST00000407780.3	-	2	176	c.49C>T	c.(49-51)Cga>Tga	p.R17*	ICOSLG_ENST00000400379.3_Nonsense_Mutation_p.R17*|ICOSLG_ENST00000344330.4_Nonsense_Mutation_p.R17*|ICOSLG_ENST00000400377.3_Nonsense_Mutation_p.R17*	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	17					B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.R17*(1)		endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TTACCAGCTCGAAGGCTGCTG	0.607																																						ENST00000407780.3																			1	Substitution - Nonsense(1)	p.R17*(1)	endometrium(1)	endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5						c.(49-51)Cga>Tga		inducible T-cell co-stimulator ligand							37	42	41					21																	45658337		1907	4113	6020	SO:0001587	stop_gained	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45658337G>A	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Endogenous ligands"	17087	protein-coding gene	gene with protein product	"B7-related protein 1", "B7 homologue 2", "B7 homolog 2"	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.49C>T	21.37:g.45658337G>A	ENSP00000384432:p.Arg17*		Somatic				ICOSLG_ENST00000400379.3_Nonsense_Mutation_p.R17*|ICOSLG_ENST00000400377.3_Nonsense_Mutation_p.R17*|ICOSLG_ENST00000344330.4_Nonsense_Mutation_p.R17*	p.R17*			WXS	Illumina GAIIx	Phase_I	O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	2	176	-			17					A8MUZ1|Q9HD18|Q9NRQ1	Nonsense_Mutation	SNP	ENST00000407780.3	37	c.49C>T	CCDS42952.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844451	0.51164	.	.	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379;ENST00000400377	.	.	.	3.33	2.42	0.29668	.	1.298300	0.05591	N	0.574589	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	5.8348	0.18601	0.151:0.0:0.849:0.0	.	.	.	.	X	17	.	ENSP00000339477:R17X	R	-	1	2	ICOSLG	44482765	0.257000	0.24022	0.114000	0.21550	0.057000	0.15508	0.260000	0.18424	0.950000	0.37743	0.591000	0.81541	CGA		0.607	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259		5	34	0	0	0	1	0	5	34					A	45658337	G	A	45658337	4	1	48	1	0	0	0	0	0	1	0	0	7496	1066	37	1	883	1	ICOSLG	21	45658337	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	550498	45658337	2471558	4306	8774										
TRPM2	7226	broad.mit.edu	37	chr21	45819213	45819213	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgctaccggaaggacgaagaGagagcccagaaactgctcac	12	11	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:45819213G>T	ENST00000397928.1	+	14	2542	c.2097G>T	c.(2095-2097)gaG>gaT	p.E699D	TRPM2_ENST00000300481.9_Missense_Mutation_p.E679D|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.E699D|TRPM2_ENST00000300482.5_Missense_Mutation_p.E699D	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	699					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGGACGAAGAGAGAGCCCAGA	0.627																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(2095-2097)gaG>gaT		transient receptor potential cation channel, subfamily M, member 2							69	68	68					21																	45819213		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45819213G>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2097G>T	21.37:g.45819213G>T	ENSP00000381023:p.Glu699Asp		Somatic				TRPM2_ENST00000397932.2_Missense_Mutation_p.E699D|TRPM2_ENST00000300482.5_Missense_Mutation_p.E699D|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.E679D	p.E699D	NM_003307.3	NP_003298.1	WXS	Illumina GAIIx	Phase_I	O94759	TRPM2_HUMAN			14	2542	+			699					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.2097G>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	5.674	0.309016	0.10733	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.08	-3.23	0.05109	.	0.191527	0.44285	N	0.000470	T	0.64136	0.2571	L	0.41124	1.26	0.25624	N	0.986367	B;B;B	0.22746	0.074;0.009;0.036	B;B;B	0.17979	0.02;0.015;0.015	T	0.49021	-0.8982	10	0.24483	T	0.36	-18.7314	6.4779	0.22047	0.3135:0.3055:0.381:0.0	.	699;485;699	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	D	699;699;679;699	ENSP00000300482:E699D;ENSP00000381023:E699D;ENSP00000300481:E679D;ENSP00000381026:E699D	ENSP00000300481:E679D	E	+	3	2	TRPM2	44643641	0.985000	0.35326	0.004000	0.12327	0.044000	0.14063	0.545000	0.23268	-0.712000	0.04988	0.555000	0.69702	GAG		0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		28	75	1	0	8.58068e-18	1	1.15595e-17	28	75					T	45819213	G	T	45819213	3	4	48	1	0	0	0	0	1	0	0	0	16601	933	33	2	2151	2	TRPM2	21	45819213	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	160876	45819213	2310682	4307	8775										
C21orf29	54084	broad.mit.edu	37	chr21	45949728	45949728	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttctggcttccccgtgagaGcctgcaggacccgtgggatg	14	13	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:45949728G>T	ENST00000323084.4	-	5	808	c.743C>A	c.(742-744)gCt>gAt	p.A248D	TSPEAR_ENST00000397916.1_Missense_Mutation_p.A180D	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	248	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						CCCCGTGAGAGCCTGCAGGAC	0.642																																						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.(742-744)gCt>gAt		thrombospondin-type laminin G domain and EAR repeats							52	59	57					21																	45949728		2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45949728G>T	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.743C>A	21.37:g.45949728G>T	ENSP00000321987:p.Ala248Asp		Somatic				TSPEAR_ENST00000397916.1_Missense_Mutation_p.A180D	p.A248D	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	WXS	Illumina GAIIx	Phase_I	Q8WU66	TSEAR_HUMAN			5	808	-			248						Missense_Mutation	SNP	ENST00000323084.4	37	c.743C>A	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	G	4.944	0.175302	0.09391	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	T;T	0.42900	0.96;0.96	5.11	1.57	0.23409	.	0.565693	0.19042	N	0.124263	T	0.09291	0.0229	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30765	-0.9967	10	0.11182	T	0.66	-7.6466	3.5514	0.07848	0.0:0.2334:0.2861:0.4805	.	248	Q8WU66	TSEAR_HUMAN	D	248;180;248	ENSP00000321987:A248D;ENSP00000381012:A180D	ENSP00000321987:A248D	A	-	2	0	TSPEAR	44774156	0.143000	0.22626	0.010000	0.14722	0.935000	0.57460	1.523000	0.35932	0.444000	0.26612	0.491000	0.48974	GCT		0.642	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		15	42	1	0	2.32078e-09	1	2.7896e-09	15	42					T	45949728	G	T	45949728	3	4	48	1	0	0	0	0	1	0	0	0	2126	971	34	5	1298	5	C21orf29	21	45949728	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	130515	45949728	2180167	4308	8776										
COL6A2	1292	broad.mit.edu	37	chr21	47536586	47536586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgaatttggagccgacggtCgcaaggtaggctggctgggt	18	7	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:47536586C>T	ENST00000300527.4	+	9	1053	c.949C>T	c.(949-951)Cgc>Tgc	p.R317C	COL6A2_ENST00000357838.4_Missense_Mutation_p.R317C|COL6A2_ENST00000310645.5_Missense_Mutation_p.R317C|COL6A2_ENST00000397763.1_Missense_Mutation_p.R317C|COL6A2_ENST00000409416.1_Missense_Mutation_p.R317C	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	317	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGCCGACGGTCGCAAGGTAGG	0.622																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(949-951)Cgc>Tgc		collagen, type VI, alpha 2							40	44	43					21																	47536586		2202	4299	6501	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47536586C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.949C>T	21.37:g.47536586C>T	ENSP00000300527:p.Arg317Cys		Somatic				COL6A2_ENST00000409416.1_Missense_Mutation_p.R317C|COL6A2_ENST00000310645.5_Missense_Mutation_p.R317C|COL6A2_ENST00000357838.4_Missense_Mutation_p.R317C|COL6A2_ENST00000397763.1_Missense_Mutation_p.R317C	p.R317C	NM_001849.3	NP_001840.3	WXS	Illumina GAIIx	Phase_I	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	9	1053	+	Breast(49;0.245)		317			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.949C>T	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033616	0.35893	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4;-3.4	4.96	-0.937	0.10415	.	0.386348	0.26126	N	0.026196	D	0.94751	0.8306	L	0.52126	1.63	0.38452	D	0.946986	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.83275	0.996;0.975;0.945	D	0.93976	0.7254	10	0.62326	D	0.03	-22.4738	16.1134	0.81278	0.6195:0.3805:0.0:0.0	.	317;317;317	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	C	317	ENSP00000300527:R317C;ENSP00000350497:R317C;ENSP00000312529:R317C;ENSP00000387115:R317C;ENSP00000380870:R317C	ENSP00000300527:R317C	R	+	1	0	COL6A2	46361014	0.006000	0.16342	0.225000	0.23894	0.822000	0.46500	-0.108000	0.10857	0.032000	0.15435	0.655000	0.94253	CGC		0.622	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			15	31	0	0	0	1	0	15	31					T	47536586	C	T	47536586	3	4	48	1	0	0	0	0	1	0	0	0	3702	884	31	1	979	1	COL6A2	21	47536586	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1586858	47536586	593309	4309	8777										
MCM3AP	8888	broad.mit.edu	37	chr21	47674319	47674319	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctgacctgccacaactctCtggggactgctcctctacat	7	16	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:47674319C>T	ENST00000397708.1	-	20	4377	c.4123G>A	c.(4123-4125)Gag>Aag	p.E1375K	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|AP001469.9_ENST00000430259.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1375K|AP001469.9_ENST00000447037.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1375					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)					CCACAACTCTCTGGGGACTGC	0.612																																						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.(4123-4125)Gag>Aag		minichromosome maintenance complex component 3 associated protein							87	78	81					21																	47674319		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47674319C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4123G>A	21.37:g.47674319C>T	ENSP00000380820:p.Glu1375Lys		Somatic				MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1375K|MCM3AP-AS1_ENST00000590829.1_RNA	p.E1375K			WXS	Illumina GAIIx	Phase_I	O60318	MCM3A_HUMAN			20	4377	-	Breast(49;0.112)		1375					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.4123G>A	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	1.177	-0.639141	0.03557	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.44083	0.93;0.93	5.22	4.32	0.51571	.	0.590131	0.18952	N	0.126675	T	0.25568	0.0622	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17167	-1.0378	10	0.17832	T	0.49	-8.2105	8.0351	0.30488	0.1591:0.761:0.0:0.0799	.	1375	O60318	MCM3A_HUMAN	K	1375	ENSP00000380820:E1375K;ENSP00000291688:E1375K	ENSP00000291688:E1375K	E	-	1	0	MCM3AP	46498747	0.028000	0.19301	0.755000	0.31263	0.324000	0.28378	0.810000	0.27183	1.168000	0.42723	0.655000	0.94253	GAG		0.612	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		22	50	0	0	0	1	0	22	50					T	47674319	C	T	47674319	3	4	48	1	0	0	0	0	1	0	0	0	9397	922	32	3	1859	3	MCM3AP	21	47674319	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	137733	47674319	455576	4310	8778										
MCM3AP	8888	broad.mit.edu	37	chr21	47705107	47705107	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagagaaggttgaccaaatcGaaatggcggcttagatggaa	13	5	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:47705107G>A	ENST00000397708.1	-	2	348	c.94C>T	c.(94-96)Cga>Tga	p.R32*	YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000397692.1_5'Flank|MCM3AP_ENST00000291688.1_Nonsense_Mutation_p.R32*|YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397701.4_5'Flank|YBEY_ENST00000397691.1_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	32					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)					TGACCAAATCGAAATGGCGGC	0.463																																						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.(94-96)Cga>Tga		minichromosome maintenance complex component 3 associated protein							73	75	74					21																	47705107		2203	4300	6503	SO:0001587	stop_gained	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47705107G>A	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.94C>T	21.37:g.47705107G>A	ENSP00000380820:p.Arg32*		Somatic				MCM3AP_ENST00000291688.1_Nonsense_Mutation_p.R32*	p.R32*			WXS	Illumina GAIIx	Phase_I	O60318	MCM3A_HUMAN			2	348	-	Breast(49;0.112)		32					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Nonsense_Mutation	SNP	ENST00000397708.1	37	c.94C>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945465	0.73672	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000426537	.	.	.	5.04	3.19	0.36642	.	0.708209	0.13075	N	0.415761	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1106	12.8172	0.57671	0.0:0.3149:0.6851:0.0	.	.	.	.	X	32	.	ENSP00000291688:R32X	R	-	1	2	MCM3AP	46529535	1.000000	0.71417	0.039000	0.18376	0.822000	0.46500	3.186000	0.50942	0.669000	0.31146	0.561000	0.74099	CGA		0.463	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		20	47	0	0	0	1	0	20	47					A	47705107	G	A	47705107	4	1	48	1	0	0	0	0	0	1	0	0	9397	1066	37	1	5960	1	MCM3AP	21	47705107	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	30788	47705107	424788	4311	8779										
PCNT	5116	broad.mit.edu	37	chr21	47773050	47773050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aactcctggcgcgcacctctCgtgtggaagatttagaacag	11	11	1	2	rs371251124		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:47773050C>T	ENST00000359568.5	+	10	1596	c.1489C>T	c.(1489-1491)Cgt>Tgt	p.R497C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	497	Glu-rich.				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)					GCGCACCTCTCGTGTGGAAGA	0.488																																						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.(1489-1491)Cgt>Tgt		pericentrin		C	CYS/ARG	0,4406		0,0,2203	51	54	53		1489	3.8	0	21		53	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCNT	NM_006031.5	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	497/3337	47773050	1,13005	2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47773050C>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.1489C>T	21.37:g.47773050C>T	ENSP00000352572:p.Arg497Cys		Somatic				PCNT_ENST00000480896.1_3'UTR	p.R497C	NM_006031.5	NP_006022.3	WXS	Illumina GAIIx	Phase_I	O95613	PCNT_HUMAN			10	1596	+	Breast(49;0.112)		497			Glu-rich.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.1489C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310518	0.40895	0.0	1.16E-4	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01804	4.63	4.68	3.79	0.43588	.	.	.	.	.	T	0.01421	0.0046	N	0.14661	0.345	0.09310	N	1	P;P	0.44044	0.825;0.733	B;B	0.33890	0.172;0.083	T	0.53151	-0.8479	9	0.59425	D	0.04	.	13.3091	0.60370	0.1591:0.8409:0.0:0.0	.	379;497	O95613-2;O95613	.;PCNT_HUMAN	C	497;484	ENSP00000352572:R497C	ENSP00000338675:R484C	R	+	1	0	PCNT	46597478	0.017000	0.18338	0.001000	0.08648	0.006000	0.05464	2.712000	0.47186	0.939000	0.37446	0.563000	0.77884	CGT		0.488	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		19	39	0	0	0	1	0	19	39					T	47773050	C	T	47773050	3	4	48	1	0	0	0	0	1	0	0	0	11599	884	31	1	1527	1	PCNT	21	47773050	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	67943	47773050	356845	4312	8780										
SLC25A18	83733	broad.mit.edu	37	chr22	18064149	18064149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgcctgatgaagacggctCgggcggagggcttcttcggc	16	11	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:18064149C>T	ENST00000327451.6	+	5	707	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Missense_Mutation_p.R57W|SLC25A18_ENST00000497401.1_3'UTR	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	57						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		GAAGACGGCTCGGGCGGAGGG	0.652																																					Colon(118;1560 1625 18964 29606 50093)	ENST00000327451.5																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18						c.(169-171)Cgg>Tgg		solute carrier family 25 (glutamate carrier), member 18	L-Glutamic Acid(DB00142)						95	94	94					22																	18064149		2203	4300	6503	SO:0001583	missense	83733					integral to membrane|mitochondrial inner membrane	binding|symporter activity	g.chr22:18064149C>T	AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"Solute carriers"	10988	protein-coding gene	gene with protein product		609303	"solute carrier family 25 (mitochondrial carrier), member 18"			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.169C>T	22.37:g.18064149C>T	ENSP00000329033:p.Arg57Trp		Somatic				AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000497401.1_3'UTR|SLC25A18_ENST00000399813.1_Missense_Mutation_p.R57W	p.R57W	NM_031481.1	NP_113669.1	WXS	Illumina GAIIx	Phase_I	Q9H1K4	GHC2_HUMAN		Lung(27;0.124)	5	707	+			57						Missense_Mutation	SNP	ENST00000327451.6	37	c.169C>T	CCDS13744.1	.	.	.	.	.	.	.	.	.	.	C	30	5.058096	0.93846	.	.	ENSG00000182902	ENST00000327451;ENST00000399813	T;T	0.80738	-1.41;-1.41	5.23	3.07	0.35406	Mitochondrial carrier domain (2);	0.189331	0.44483	D	0.000454	D	0.91449	0.7301	H	0.95187	3.635	0.30510	N	0.76954	D	0.76494	0.999	D	0.72625	0.978	D	0.89281	0.3612	10	0.87932	D	0	-6.1054	11.0067	0.47637	0.1562:0.7187:0.125:0.0	.	57	Q9H1K4	GHC2_HUMAN	W	57	ENSP00000329033:R57W;ENSP00000382710:R57W	ENSP00000329033:R57W	R	+	1	2	SLC25A18	16444149	0.945000	0.32115	0.002000	0.10522	0.630000	0.37929	2.621000	0.46418	0.609000	0.30018	0.563000	0.77884	CGG		0.652	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316214.3	NM_031481		45	98	0	0	0	1	0	45	98					T	18064149	C	T	18064149	3	4	48	1	0	0	0	0	1	0	0	0	14495	875	31	1	179	1	SLC25A18	22	18064149	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08		18064149	33240417	4313	8781										
CLTCL1	8218	broad.mit.edu	37	chr22	19203720	19203720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaaggctttgacagtgaccGaaatctcttcaggatcccgt	9	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:19203720G>A	ENST00000263200.10	-	19	3038	c.2966C>T	c.(2965-2967)tCg>tTg	p.S989L	CLTCL1_ENST00000427926.1_Missense_Mutation_p.S989L|CLTCL1_ENST00000353891.5_Missense_Mutation_p.S989L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	989	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)					GACAGTGACCGAAATCTCTTC	0.423			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.(2965-2967)tCg>tTg		clathrin, heavy chain-like 1							99	95	96					22																	19203720		1889	4115	6004	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19203720G>A		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.2966C>T	22.37:g.19203720G>A	ENSP00000445677:p.Ser989Leu		Somatic				CLTCL1_ENST00000353891.5_Missense_Mutation_p.S989L|CLTCL1_ENST00000427926.1_Missense_Mutation_p.S989L	p.S989L	NM_007098.3	NP_009029.3	WXS	Illumina GAIIx	Phase_I	P53675	CLH2_HUMAN			19	3038	-	Colorectal(54;0.0993)		989			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.2966C>T	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227557	0.58668	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.22539	1.95;1.95;1.95	3.4	3.4	0.38934	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000006	T	0.52693	0.1750	M	0.90814	3.15	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.87578	0.882;0.998	T	0.64719	-0.6341	10	0.51188	T	0.08	-7.4877	15.3273	0.74176	0.0:0.0:1.0:0.0	.	989;989	P53675-2;P53675	.;CLH2_HUMAN	L	989	ENSP00000439662:S989L;ENSP00000445677:S989L;ENSP00000441158:S989L	ENSP00000445677:S989L	S	-	2	0	CLTCL1	17583720	1.000000	0.71417	0.057000	0.19452	0.256000	0.26092	5.889000	0.69766	1.884000	0.54569	0.563000	0.77884	TCG		0.423	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		25	28	0	0	0	1	0	25	28					A	19203720	G	A	19203720	3	1	48	1	0	0	0	0	1	0	0	0	3569	1059	37	1	2012	1	CLTCL1	22	19203720	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1139571	19203720	32100846	4314	8782										
CLTCL1	8218	broad.mit.edu	37	chr22	19241726	19241726	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttactcttcatctcaataTtaaagatctgaagtgtcttc	4	8	5	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:19241726T>G	ENST00000263200.10	-	3	347	c.275A>C	c.(274-276)aAt>aCt	p.N92T	CLTCL1_ENST00000427926.1_Missense_Mutation_p.N92T|CLTCL1_ENST00000353891.5_Missense_Mutation_p.N92T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	92	Globular terminal domain.|WD40-like repeat 2.				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)					CATCTCAATATTAAAGATCTG	0.343			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.(274-276)aAt>aCt		clathrin, heavy chain-like 1							63	60	61					22																	19241726		1831	4102	5933	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19241726T>G		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.275A>C	22.37:g.19241726T>G	ENSP00000445677:p.Asn92Thr		Somatic				CLTCL1_ENST00000353891.5_Missense_Mutation_p.N92T|CLTCL1_ENST00000427926.1_Missense_Mutation_p.N92T	p.N92T	NM_007098.3	NP_009029.3	WXS	Illumina GAIIx	Phase_I	P53675	CLH2_HUMAN			3	347	-	Colorectal(54;0.0993)		92			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.275A>C	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.014364	0.75161	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926;ENST00000449918	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	3.9	3.9	0.45041	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.64402	U	0.000001	T	0.60637	0.2284	H	0.94698	3.57	0.80722	D	1	D;D	0.71674	0.998;0.991	D;D	0.85130	0.981;0.997	T	0.72824	-0.4176	10	0.87932	D	0	-6.9309	12.8774	0.57998	0.0:0.0:0.0:1.0	.	92;92	P53675-2;P53675	.;CLH2_HUMAN	T	92;92;92;113	ENSP00000439662:N92T;ENSP00000445677:N92T;ENSP00000441158:N92T;ENSP00000443264:N113T	ENSP00000445677:N92T	N	-	2	0	CLTCL1	17621726	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	7.126000	0.77201	1.613000	0.50231	0.460000	0.39030	AAT		0.343	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		14	18	0	0	0	1	0	14	18					G	19241726	T	G	19241726	3	3	48	1	0	0	0	0	1	0	0	0	3569	1493	52	4	4767	4	CLTCL1	22	19241726	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	38006	19241726	32062840	4315	8783										
MRPL40	64976	broad.mit.edu	37	chr22	19423164	19423164	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccttagcttctttgcagagaGcggcctcaggtggagctcac	12	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:19423164G>A	ENST00000333130.3	+	4	953	c.300G>A	c.(298-300)gaG>gaA	p.E100E	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	100					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)					TTTGCAGAGAGCGGCCTCAGG	0.507																																						ENST00000333130.3																			0				endometrium(1)|upper_aerodigestive_tract(1)	2						c.(298-300)gaG>gaA		mitochondrial ribosomal protein L40							219	227	224					22																	19423164		2203	4300	6503	SO:0001819	synonymous_variant	64976				anatomical structure morphogenesis	mitochondrial ribosome|nucleus		g.chr22:19423164G>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.300G>A	22.37:g.19423164G>A			Somatic				HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron|MRPL40_ENST00000471259.1_3'UTR	p.E100E	NM_003776.2	NP_003767.2	WXS	Illumina GAIIx	Phase_I	Q9NQ50	RM40_HUMAN			4	953	+	Colorectal(54;0.0993)		100					B3KVZ7|O95134	Silent	SNP	ENST00000333130.3	37	c.300G>A	CCDS13760.1																																																																																				0.507	MRPL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316491.2	NM_003776		40	290	0	0	0	1	0	40	290					A	19423164	G	A	19423164	2	1	48	1	0	0	0	0	0	0	0	1	9813	962	34	3		3	MRPL40	22	19423164	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	181438	19423164	31881402	4316	8784										
TBX1	6899	broad.mit.edu	37	chr22	19751728	19751728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcggggaaggccgaccctgCcacgccaggccgcgtgcact	16	16	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:19751728C>T	ENST00000329705.7	+	5	692	c.563C>T	c.(562-564)gCc>gTc	p.A188V	TBX1_ENST00000332710.4_Missense_Mutation_p.A188V|TBX1_ENST00000359500.3_Missense_Mutation_p.A188V	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	188					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)				GCCGACCCTGCCACGCCAGGC	0.662																																						ENST00000332710.4																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(562-564)gCc>gTc		T-box 1							53	41	45					22																	19751728		2203	4298	6501	SO:0001583	missense	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.chr22:19751728C>T	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.563C>T	22.37:g.19751728C>T	ENSP00000331176:p.Ala188Val		Somatic				TBX1_ENST00000359500.3_Missense_Mutation_p.A188V|TBX1_ENST00000329705.7_Missense_Mutation_p.A188V	p.A188V	NM_080647.1	NP_542378.1	WXS	Illumina GAIIx	Phase_I	O43435	TBX1_HUMAN			5	692	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	188					C6G493|C6G494|O43436|Q96RJ2	Missense_Mutation	SNP	ENST00000329705.7	37	c.563C>T	CCDS13766.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850636	0.71719	.	.	ENSG00000184058	ENST00000332710;ENST00000329705;ENST00000359500	D;D;D	0.87887	-2.31;-2.31;-2.31	4.75	4.75	0.60458	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.75708	0.3886	N	0.13098	0.295	0.80722	D	1	P;P;B	0.36465	0.554;0.554;0.356	B;B;B	0.28638	0.092;0.092;0.092	T	0.76228	-0.3036	10	0.30078	T	0.28	.	17.418	0.87506	0.0:1.0:0.0:0.0	.	188;188;188	Q152R5;O43435;D9ZGG0	.;TBX1_HUMAN;.	V	188	ENSP00000331791:A188V;ENSP00000331176:A188V;ENSP00000352483:A188V	ENSP00000331176:A188V	A	+	2	0	TBX1	18131728	1.000000	0.71417	0.998000	0.56505	0.815000	0.46073	4.704000	0.61831	2.206000	0.71126	0.558000	0.71614	GCC		0.662	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647		25	54	0	0	0	1	0	25	54					T	19751728	C	T	19751728	3	4	48	1	0	0	0	0	1	0	0	0	15665	739	26	3	577	3	TBX1	22	19751728	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	328564	19751728	31552838	4317	8785										
DGCR8	54487	broad.mit.edu	37	chr22	20074084	20074084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagtggagtatgcagtgctcGatgagttagaagattttact	13	4	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:20074084G>A	ENST00000351989.3	+	2	1027	c.598G>A	c.(598-600)Gat>Aat	p.D200N	MIR1306_ENST00000408439.1_RNA|MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000383024.2_Missense_Mutation_p.D200N|DGCR8_ENST00000407755.1_Missense_Mutation_p.D200N	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	200	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TGCAGTGCTCGATGAGTTAGA	0.483																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(598-600)Gat>Aat		DGCR8 microprocessor complex subunit							124	130	128					22																	20074084		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20074084G>A	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.598G>A	22.37:g.20074084G>A	ENSP00000263209:p.Asp200Asn		Somatic				DGCR8_ENST00000407755.1_Missense_Mutation_p.D200N|DGCR8_ENST00000383024.2_Missense_Mutation_p.D200N	p.D200N	NM_022720.6	NP_073557.3	WXS	Illumina GAIIx	Phase_I	Q8WYQ5	DGCR8_HUMAN			2	1027	+	Colorectal(54;0.0993)		200			Necessary for interaction with NCL.|Necessary for nuclear localization and retention.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.598G>A	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603828	0.87157	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.51325	0.87;0.71;0.71	5.42	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	L	0.32530	0.975	0.80722	D	1	B;B	0.20459	0.045;0.027	B;B	0.15052	0.012;0.005	T	0.25152	-1.0140	10	0.54805	T	0.06	-12.8371	14.4252	0.67210	0.073:0.0:0.927:0.0	.	200;200	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	N	200	ENSP00000263209:D200N;ENSP00000372488:D200N;ENSP00000384726:D200N	ENSP00000263209:D200N	D	+	1	0	DGCR8	18454084	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.409000	0.80053	2.826000	0.97356	0.491000	0.48974	GAT		0.483	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			46	102	0	0	0	1	0	46	102					A	20074084	G	A	20074084	3	1	48	1	0	0	0	0	1	0	0	0	4466	1058	37	1	600	1	DGCR8	22	20074084	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	322356	20074084	31230482	4318	8786										
PI4KA	5297	broad.mit.edu	37	chr22	21072993	21072993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcacttacttgatgatagccGacacgttggtgatcttgtta	10	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:21072993G>A	ENST00000572273.1	-	44	5290	c.5060C>T	c.(5059-5061)tCg>tTg	p.S1687L	PI4KA_ENST00000414196.3_Missense_Mutation_p.S497L|PI4KA_ENST00000255882.6_Missense_Mutation_p.S1745L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1687	Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity. {ECO:0000250}.				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)			GATGATAGCCGACACGTTGGT	0.483																																					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.(5233-5235)tCg>tTg		phosphatidylinositol 4-kinase, catalytic, alpha							117	118	117					22																	21072993		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.chr22:21072993G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5060C>T	22.37:g.21072993G>A	ENSP00000458238:p.Ser1687Leu		Somatic				PI4KA_ENST00000414196.3_Missense_Mutation_p.S497L|PI4KA_ENST00000572273.1_Missense_Mutation_p.S1687L	p.S1745L	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)		44	5320	-	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)	1687			Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity).		Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.5234C>T		.	.	.	.	.	.	.	.	.	.	G	23.9	4.471812	0.84533	.	.	ENSG00000241973	ENST00000255882;ENST00000414196;ENST00000399213	T;T	0.80909	-1.43;-1.43	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.058607	0.64402	D	0.000001	D	0.91955	0.7452	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.93900	0.7187	10	0.87932	D	0	-8.675	18.0663	0.89391	0.0:0.0:1.0:0.0	.	80;1687	A8MTF1;P42356	.;PI4KA_HUMAN	L	1687;497;80	ENSP00000402981:S497L;ENSP00000382162:S80L	ENSP00000255882:S1687L	S	-	2	0	PI4KA	19402993	1.000000	0.71417	0.840000	0.33206	0.517000	0.34286	9.818000	0.99354	2.258000	0.74832	0.650000	0.86243	TCG		0.483	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		41	70	0	0	0	1	0	41	70					A	21072993	G	A	21072993	3	1	48	1	0	0	0	0	1	0	0	0	11882	1059	37	1	1122	1	PI4KA	22	21072993	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	998909	21072993	30231573	4319	8787										
AIFM3	150209	broad.mit.edu	37	chr22	21331227	21331227	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgcggggccaggagggaaaGgtgggcccttctcccttctc	15	13	2	0	rs551037156		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:21331227G>A	ENST00000399167.2	+	13	1458	c.1218G>A	c.(1216-1218)aaG>aaA	p.K406K	AIFM3_ENST00000335375.5_Splice_Site_p.K394K|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Splice_Site_p.K406K|AIFM3_ENST00000405089.1_Splice_Site_p.K412K|AIFM3_ENST00000399163.2_Splice_Site_p.K406K|AIFM3_ENST00000440238.2_Splice_Site_p.K406K	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	406					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGGAGGGAAAGGTGGGCCCTT	0.607																																						ENST00000399167.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.e13+1		apoptosis-inducing factor, mitochondrion-associated, 3							145	144	144					22																	21331227		2203	4300	6503	SO:0001630	splice_region_variant	150209							g.chr22:21331227G>A	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1218+1G>A	22.37:g.21331227G>A			Somatic				AIFM3_ENST00000333607.6_Splice_Site_p.K406_splice|AIFM3_ENST00000399163.2_Splice_Site_p.K406_splice|AIFM3_ENST00000335375.5_Splice_Site_p.K394_splice|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000405089.1_Splice_Site_p.K412_splice|AIFM3_ENST00000440238.2_Splice_Site_p.K406_splice	p.K406_splice	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)		13	1458	+	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	Splice_Site	SNP	ENST00000399167.2	37	c.1218_splice	CCDS13786.1																																																																																				0.607	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704	Silent	24	57	0	0	0	1	0	24	57					A	21331227	G	A	21331227	5	1	48	1	0	0	0	0	0	0	1	0	428	1014	35	3	1282	3	AIFM3	22	21331227	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	258234	21331227	29973339	4320	8788										
LZTR1	8216	broad.mit.edu	37	chr22	21344752	21344752	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgggacaagatgtttgtattCtctgggcaaagcggagccaa	13	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:21344752C>A	ENST00000215739.8	+	8	1088	c.729C>A	c.(727-729)ttC>ttA	p.F243L	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.F224L	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	243					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)			TGTTTGTATTCTCTGGGCAAA	0.567																																						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.(727-729)ttC>ttA		leucine-zipper-like transcription regulator 1							109	103	105					22																	21344752		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21344752C>A	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.729C>A	22.37:g.21344752C>A	ENSP00000215739:p.Phe243Leu		Somatic				LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.F224L	p.F243L	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)		8	1088	+	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)	243					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.729C>A	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.873846	0.72180	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.68624	-0.34;-0.34	5.7	4.68	0.58851	Kelch-type beta propeller (1);	0.097484	0.64402	D	0.000001	T	0.73783	0.3631	M	0.80616	2.505	0.58432	D	0.999999	B;P;B;B	0.35944	0.046;0.529;0.026;0.012	B;P;B;B	0.46585	0.066;0.521;0.022;0.02	T	0.76926	-0.2778	10	0.87932	D	0	-33.8228	9.3171	0.37941	0.0:0.837:0.0:0.163	.	224;202;243;202	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	L	202;243;224	ENSP00000215739:F243L;ENSP00000374006:F224L	ENSP00000215739:F243L	F	+	3	2	LZTR1	19674752	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.106000	0.31098	2.688000	0.91661	0.655000	0.94253	TTC		0.567	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		34	67	1	0	1.56442e-22	1	2.17472e-22	34	67					A	21344752	C	A	21344752	3	1	48	1	0	0	0	0	1	0	0	0	9146	912	32	2	759	2	LZTR1	22	21344752	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	13525	21344752	29959814	4321	8789										
SLC7A4	6545	broad.mit.edu	37	chr22	21385316	21385316	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcacagaccgccgtgggttCtgggcctcctcactggaggc	15	14	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:21385316C>A	ENST00000382932.2	-	2	853	c.786G>T	c.(784-786)caG>caT	p.Q262H	AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.Q262H	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	262					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)			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)	GCCGTGGGTTCTGGGCCTCCT	0.622																																						ENST00000382932.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18						c.(784-786)caG>caT		solute carrier family 7, member 4	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						51	48	49					22																	21385316		2203	4300	6503	SO:0001583	missense	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21385316C>A	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.786G>T	22.37:g.21385316C>A	ENSP00000372390:p.Gln262His		Somatic				SLC7A4_ENST00000403586.1_Missense_Mutation_p.Q262H	p.Q262H	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)		2	853	-	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)	262					Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	c.786G>T	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243523	0.39697	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.90069	-2.61;-2.61	5.28	0.387	0.16259	Amino acid permease domain (1);	0.590057	0.18078	N	0.152404	D	0.83640	0.5298	L	0.48935	1.535	0.21740	N	0.999564	B	0.16396	0.017	B	0.26614	0.071	T	0.74562	-0.3624	10	0.54805	T	0.06	.	8.3757	0.32442	0.0:0.6219:0.0:0.3781	.	262	O43246	CTR4_HUMAN	H	262	ENSP00000384278:Q262H;ENSP00000372390:Q262H	ENSP00000372390:Q262H	Q	-	3	2	SLC7A4	19715316	0.805000	0.28982	0.492000	0.27490	0.764000	0.43329	0.274000	0.18680	0.207000	0.20607	0.561000	0.74099	CAG		0.622	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		20	34	1	0	8.10497e-08	1	9.43176e-08	20	34					A	21385316	C	A	21385316	3	1	48	1	0	0	0	0	1	0	0	0	14714	912	32	2	1137	2	SLC7A4	22	21385316	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	40564	21385316	29919250	4322	8790										
PPIL2	23759	broad.mit.edu	37	chr22	22024873	22024873	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agatctcccacaaacaaattTtcgtcgtttaccttttgacc	4	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:22024873T>G	ENST00000335025.8	+	3	192	c.101T>G	c.(100-102)tTt>tGt	p.F34C	PPIL2_ENST00000492445.2_Missense_Mutation_p.F34C|PPIL2_ENST00000412327.1_Missense_Mutation_p.F34C|PPIL2_ENST00000406385.1_Missense_Mutation_p.F34C|PPIL2_ENST00000398831.3_Missense_Mutation_p.F34C|PPIL2_ENST00000456792.2_Missense_Mutation_p.F34C					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					CAAACAAATTTTCGTCGTTTA	0.368																																						ENST00000406385.1																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17						c.(100-102)tTt>tGt		peptidylprolyl isomerase (cyclophilin)-like 2							161	153	156					22																	22024873		2202	4300	6502	SO:0001583	missense	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22024873T>G		CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"U-box domain containing"	9261	protein-coding gene	gene with protein product	"U-box domain containing 7"	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.101T>G	22.37:g.22024873T>G	ENSP00000334553:p.Phe34Cys		Somatic				PPIL2_ENST00000335025.7_Missense_Mutation_p.F34C|PPIL2_ENST00000456792.2_Missense_Mutation_p.F34C|PPIL2_ENST00000412327.1_Missense_Mutation_p.F34C|PPIL2_ENST00000398831.3_Missense_Mutation_p.F34C|PPIL2_ENST00000492445.2_Missense_Mutation_p.F34C	p.F34C			WXS	Illumina GAIIx	Phase_I	Q13356	PPIL2_HUMAN			3	161	+	Colorectal(54;0.105)		34						Missense_Mutation	SNP	ENST00000335025.8	37	c.101T>G	CCDS13793.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.750088	0.69533	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000458567;ENST00000406385;ENST00000456792	T;T;T;T;T;T	0.32023	1.51;1.54;1.54;1.54;1.54;1.47	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.62756	0.2454	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.984;0.987;0.992	T	0.71712	-0.4510	10	0.87932	D	0	.	10.7168	0.46017	0.0:0.0:0.0:1.0	.	34;34;34	E7EW80;Q13356-2;Q13356	.;.;PPIL2_HUMAN	C	34;34;34;34;65;34;34	ENSP00000390427:F34C;ENSP00000334553:F34C;ENSP00000381812:F34C;ENSP00000445312:F34C;ENSP00000384299:F34C;ENSP00000396228:F34C	ENSP00000334553:F34C	F	+	2	0	PPIL2	20354873	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.046000	0.64226	2.100000	0.63781	0.460000	0.39030	TTT		0.368	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			20	35	0	0	0	1	0	20	35					G	22024873	T	G	22024873	3	3	48	1	0	0	0	0	1	0	0	0	12339	1841	64	4	111	4	PPIL2	22	22024873	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	639557	22024873	29279693	4323	8791										
ZNF280A	129025	broad.mit.edu	37	chr22	22869151	22869151	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacacgatgggattttctttCttgggatcaaaggtcttgtt	10	6	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:22869151C>A	ENST00000302097.3	-	2	1056	c.804G>T	c.(802-804)aaG>aaT	p.K268N	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	268					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(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GATTTTCTTTCTTGGGATCAA	0.428																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(802-804)aaG>aaT		zinc finger protein 280A							129	116	121					22																	22869151		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869151C>A	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"zinc finger protein 280", "suppressor of hairy wing homolog 1 (Drosophila)"	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.804G>T	22.37:g.22869151C>A	ENSP00000302855:p.Lys268Asn		Somatic					p.K268N	NM_080740.3	NP_542778.1	WXS	Illumina GAIIx	Phase_I	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1056	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	268						Missense_Mutation	SNP	ENST00000302097.3	37	c.804G>T	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	C	5.419	0.262425	0.10294	.	.	ENSG00000169548	ENST00000302097	T	0.01203	5.18	3.9	2.82	0.32997	.	.	.	.	.	T	0.01695	0.0054	L	0.57536	1.79	0.09310	N	0.999998	P	0.40398	0.716	B	0.36335	0.222	T	0.45891	-0.9230	9	0.87932	D	0	-0.4466	9.2556	0.37581	0.0:0.7005:0.2995:0.0	.	268	P59817	Z280A_HUMAN	N	268	ENSP00000302855:K268N	ENSP00000302855:K268N	K	-	3	2	ZNF280A	21199151	0.959000	0.32827	0.125000	0.21846	0.020000	0.10135	0.465000	0.22004	1.106000	0.41623	0.655000	0.94253	AAG		0.428	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		26	51	1	0	3.73808e-20	1	5.11168e-20	26	51					A	22869151	C	A	22869151	3	1	48	1	0	0	0	0	1	0	0	0	17829	912	32	2	828	2	ZNF280A	22	22869151	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	844278	22869151	28435415	4324	8792										
ZNF280A	129025	broad.mit.edu	37	chr22	22869289	22869289	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggccaaggaaatgttactccAttctgaacatggtttgatga	10	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:22869289A>G	ENST00000302097.3	-	2	918	c.666T>C	c.(664-666)aaT>aaC	p.N222N	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	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(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATGTTACTCCATTCTGAACAT	0.438																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(664-666)aaT>aaC		zinc finger protein 280A							145	134	138					22																	22869289		2203	4300	6503	SO:0001819	synonymous_variant	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869289A>G	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"zinc finger protein 280", "suppressor of hairy wing homolog 1 (Drosophila)"	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.666T>C	22.37:g.22869289A>G			Somatic					p.N222N	NM_080740.3	NP_542778.1	WXS	Illumina GAIIx	Phase_I	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	918	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	222						Silent	SNP	ENST00000302097.3	37	c.666T>C	CCDS13800.1																																																																																				0.438	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		30	60	0	0	0	1	0	30	60					G	22869289	A	G	22869289	2	3	48	1	0	0	0	0	0	0	0	1	17829	214	8	4		4	ZNF280A	22	22869289	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	138	22869289	28435277	4325	8793										
MMP11	4320	broad.mit.edu	37	chr22	24124645	24124645	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaggggtgccctctgagatCgacgctgccttccaggatgc	14	12	1	2	rs546922322		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24124645C>T	ENST00000215743.3	+	7	1360	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	AP000349.1_ENST00000598975.1_Missense_Mutation_p.D192N	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	436					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)	CCTCTGAGATCGACGCTGCCT	0.677													C|||	1	0.000199681	0	0	5008	,	,		18682	0		0	False		,,,				2504	0.001					ENST00000598975.1																			0											c.(574-576)Gat>Aat									35	27	30					22																	24124645		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr22:24124645C>T		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.1308C>T	22.37:g.24124645C>T			Somatic				MMP11_ENST00000215743.3_Silent_p.I436I	p.D192N			WXS	Illumina GAIIx	Phase_I					2	573	-								Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	ENST00000215743.3	37	c.574G>A	CCDS13816.1																																																																																				0.677	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		11	21	0	0	0	1	0	11	21					T	24124645	C	T	24124645	2	4	48	1	0	0	0	0	0	0	0	1	9659	874	31	1		1	MMP11	22	24124645	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1255356	24124645	27179921	4326	8794										
DDTL	100037417	broad.mit.edu	37	chr22	24313580	24313580	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgaatgaggaagctctcttCatttatttcatatgaggatg	9	5	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24313580C>A	ENST00000215770.5	+	3	404	c.390C>A	c.(388-390)ttC>ttA	p.F130L	KB-226F1.2_ENST00000609736.1_lincRNA|DDT_ENST00000398344.4_3'UTR|DDT_ENST00000404092.1_3'UTR|DDT_ENST00000350608.3_3'UTR	NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN	D-dopachrome tautomerase-like	130						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lyase activity (GO:0016829)			kidney(1)|urinary_tract(1)	2						AAGCTCTCTTCATTTATTTCA	0.473																																						ENST00000215770.5																			0				kidney(1)|urinary_tract(1)	2						c.(388-390)ttC>ttA		D-dopachrome tautomerase-like							87	88	88					22																	24313580		2203	4299	6502	SO:0001583	missense	100037417					cytoplasm	lyase activity	g.chr22:24313580C>A	CR606018	CCDS42988.1	22q11.23	2008-06-10			ENSG00000099974	ENSG00000099974			33446	protein-coding gene	gene with protein product	"D-dopachrome decarboxylase-like protein"					9729470, 10591208	Standard	NM_001084393		Approved		uc002zyy.4	A6NHG4	OTTHUMG00000150800	ENST00000215770.5:c.390C>A	22.37:g.24313580C>A	ENSP00000215770:p.Phe130Leu		Somatic				DDT_ENST00000398344.4_3'UTR|DDT_ENST00000404092.1_3'UTR|DDT_ENST00000350608.3_3'UTR	p.F130L	NM_001084393.1	NP_001077862.1	WXS	Illumina GAIIx	Phase_I	A6NHG4	DDTL_HUMAN			3	404	+			130					B4DJJ7	Missense_Mutation	SNP	ENST00000215770.5	37	c.390C>A	CCDS42988.1	.	.	.	.	.	.	.	.	.	.	.	8.520	0.868548	0.17322	.	.	ENSG00000099974	ENST00000215770	.	.	.	3.75	0.0187	0.14117	.	.	.	.	.	T	0.21550	0.0519	N	0.08118	0	0.33045	D	0.531931	B	0.32781	0.384	B	0.35312	0.2	T	0.27872	-1.0061	8	0.87932	D	0	.	5.5738	0.17212	0.0:0.5459:0.0:0.4541	.	130	A6NHG4	DDTL_HUMAN	L	130	.	ENSP00000215770:F130L	F	+	3	2	DDTL	22643580	0.001000	0.12720	0.475000	0.27278	0.556000	0.35491	-0.200000	0.09478	0.074000	0.16767	0.638000	0.83543	TTC		0.473	DDTL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320142.1	NM_001084393		24	42	1	0	0.00278032	1	0.00290051	24	42					A	24313580	C	A	24313580	3	1	48	1	0	0	0	0	1	0	0	0	4342	825	29	2	400	2	DDTL	22	24313580	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	188935	24313580	26990986	4327	8795										
GSTT2	2953	broad.mit.edu	37	chr22	24323182	24323182	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgcagatcaacagcctgggGaaactgccgacgctcaagga	12	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24323182G>A	ENST00000215780.5	+	2	206	c.156G>A	c.(154-156)ggG>ggA	p.G52G	GSTT2_ENST00000402588.3_Silent_p.G52G|DDT_ENST00000404092.1_5'Flank|DDT_ENST00000350608.3_5'Flank	NM_000854.3	NP_000845.1	P0CG29	GST2_HUMAN	glutathione S-transferase theta 2	52	GST N-terminal.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			lung(1)	1						ACAGCCTGGGGAAACTGCCGA	0.542																																						ENST00000215780.5																			0				lung(1)	1						c.(154-156)ggG>ggA		glutathione S-transferase theta 2							261	220	234					22																	24323182		2203	4298	6501	SO:0001819	synonymous_variant	2953					cytoplasm	glutathione transferase activity	g.chr22:24323182G>A	L38503		22q11.23	2012-06-21			ENSG00000099984	ENSG00000099984	2.5.1.18	"Glutathione S-transferases / Soluble"	4642	protein-coding gene	gene with protein product		600437				7789971, 9729470	Standard	NM_000854		Approved		uc002zyw.4	P0CG29	OTTHUMG00000150786	ENST00000215780.5:c.156G>A	22.37:g.24323182G>A			Somatic				GSTT2_ENST00000402588.3_Silent_p.G52G	p.G52G	NM_000854.3	NP_000845.1	WXS	Illumina GAIIx	Phase_I	P0CG30	GSTT2_HUMAN			2	206	+			52			GST N-terminal.		O60665|P30712|Q6IPV7|Q9HD76	Silent	SNP	ENST00000215780.5	37	c.156G>A	CCDS13821.1																																																																																				0.542	GSTT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320080.1	NM_000854		27	90	0	0	0	1	0	27	90					A	24323182	G	A	24323182	2	1	48	1	0	0	0	0	0	0	0	1	6855	1161	41	3		3	GSTT2	22	24323182	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	9602	24323182	26981384	4328	8796										
SUSD2	56241	broad.mit.edu	37	chr22	24579121	24579121	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggcacctgctgcttggattTccgggacttctgcctggaga	13	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24579121T>G	ENST00000358321.3	+	2	434	c.173T>G	c.(172-174)tTc>tGc	p.F58C		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	58	SMB. {ECO:0000255|PROSITE- ProRule:PRU00350}.				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						TGCTTGGATTTCCGGGACTTC	0.617																																						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.(172-174)tTc>tGc		sushi domain containing 2							128	137	134					22																	24579121		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24579121T>G	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.173T>G	22.37:g.24579121T>G	ENSP00000351075:p.Phe58Cys		Somatic					p.F58C	NM_019601.3	NP_062547.1	WXS	Illumina GAIIx	Phase_I	Q9UGT4	SUSD2_HUMAN			2	434	+			58			SMB.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.173T>G	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.127212	0.56721	.	.	ENSG00000099994	ENST00000358321	T	0.55760	0.5	3.76	2.63	0.31362	Somatomedin B domain (4);	0.250002	0.34223	N	0.004145	T	0.56381	0.1981	L	0.60455	1.87	0.27251	N	0.958883	D	0.58620	0.983	P	0.57371	0.819	T	0.44697	-0.9311	10	0.38643	T	0.18	-11.352	6.1807	0.20470	0.3402:0.0:0.0:0.6598	.	58	Q9UGT4	SUSD2_HUMAN	C	58	ENSP00000351075:F58C	ENSP00000351075:F58C	F	+	2	0	SUSD2	22909121	0.044000	0.20184	0.014000	0.15608	0.903000	0.53119	2.966000	0.49208	1.747000	0.51819	0.369000	0.22263	TTC		0.617	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		21	112	0	0	0	1	0	21	112					G	24579121	T	G	24579121	3	3	48	1	0	0	0	0	1	0	0	0	15423	1783	62	4	179	4	SUSD2	22	24579121	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	255939	24579121	26725445	4329	8797										
UPB1	51733	broad.mit.edu	37	chr22	24911222	24911222	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccgtgttccagacgcagttCggaaggatcgcggtgaacat	13	11	0	2	rs143438140	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24911222C>T	ENST00000326010.5	+	6	1019	c.675C>T	c.(673-675)ttC>ttT	p.F225F	UPB1_ENST00000413389.2_Silent_p.F157F|AP000355.2_ENST00000432032.1_RNA	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	225	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)	p.F225F(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					AGACGCAGTTCGGAAGGATCG	0.537																																						ENST00000413389.2																			1	Substitution - coding silent(1)	p.F225F(1)	upper_aerodigestive_tract(1)	endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(469-471)ttC>ttT		ureidopropionase, beta		T		2,4404	4.2+/-10.8	0,2,2201	139	115	123		675	-10.2	0	22	dbSNP_134	123	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	UPB1	NM_016327.2		0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308		225/385	24911222	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	51733				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding	g.chr22:24911222C>T	AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.675C>T	22.37:g.24911222C>T			Somatic				UPB1_ENST00000326010.5_Silent_p.F225F	p.F157F			WXS	Illumina GAIIx	Phase_I	Q9UBR1	BUP1_HUMAN			6	2064	+	Colorectal(2;0.0339)		225			CN hydrolase.		A3KMF8|Q9UIR3	Silent	SNP	ENST00000326010.5	37	c.471C>T	CCDS13827.1																																																																																				0.537	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1			47	83	0	0	0	1	0	47	83					T	24911222	C	T	24911222	2	4	48	1	0	0	0	0	0	0	0	1	17017	883	31	1		1	UPB1	22	24911222	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	332101	24911222	26393344	4330	8798										
UPB1	51733	broad.mit.edu	37	chr22	24911325	24911325	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttcaacccctcggccacgAtaggagcactcaggtcactc	8	16	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24911325A>G	ENST00000326010.5	+	6	1122	c.778A>G	c.(778-780)Ata>Gta	p.I260V	UPB1_ENST00000413389.2_Missense_Mutation_p.I192V|AP000355.2_ENST00000432032.1_RNA	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	260	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CTCGGCCACGATAGGAGCACT	0.612																																						ENST00000413389.2																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(574-576)Ata>Gta		ureidopropionase, beta							78	65	70					22																	24911325		2203	4300	6503	SO:0001583	missense	51733				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding	g.chr22:24911325A>G	AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.778A>G	22.37:g.24911325A>G	ENSP00000324343:p.Ile260Val		Somatic				UPB1_ENST00000326010.5_Missense_Mutation_p.I260V	p.I192V			WXS	Illumina GAIIx	Phase_I	Q9UBR1	BUP1_HUMAN			6	2167	+	Colorectal(2;0.0339)		260			CN hydrolase.		A3KMF8|Q9UIR3	Missense_Mutation	SNP	ENST00000326010.5	37	c.574A>G	CCDS13827.1	.	.	.	.	.	.	.	.	.	.	a	0.015	-1.553110	0.00918	.	.	ENSG00000100024	ENST00000413389;ENST00000326010	D;D	0.85171	-1.95;-1.95	5.09	2.94	0.34122	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.290655	0.38959	N	0.001518	T	0.60521	0.2275	N	0.02842	-0.48	0.46901	D	0.999244	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56774	-0.7923	10	0.02654	T	1	-17.8231	9.172	0.37089	0.8484:0.0:0.1516:0.0	.	260;192	Q9UBR1;E7EUZ5	BUP1_HUMAN;.	V	192;260	ENSP00000406057:I192V;ENSP00000324343:I260V	ENSP00000324343:I260V	I	+	1	0	UPB1	23241325	1.000000	0.71417	0.776000	0.31678	0.187000	0.23431	2.426000	0.44731	0.967000	0.38186	-0.286000	0.09958	ATA		0.612	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1			34	64	0	0	0	1	0	34	64					G	24911325	A	G	24911325	3	3	48	1	0	0	0	0	1	0	0	0	17017	333	12	4	800	4	UPB1	22	24911325	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	103	24911325	26393241	4331	8799										
PIWIL3	440822	broad.mit.edu	37	chr22	25150111	25150111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagcagtttgtggctcacatCggcacagagggtaatgctgt	14	8	1	1	rs548864243		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:25150111C>T	ENST00000332271.5	-	8	1263	c.847G>A	c.(847-849)Gat>Aat	p.D283N	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.D174N|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D174N	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	283					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						TGGCTCACATCGGCACAGAGG	0.408													C|||	1	0.000199681	0	0	5008	,	,		19050	0.001		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.(847-849)Gat>Aat		piwi-like RNA-mediated gene silencing 3							117	114	115					22																	25150111		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.chr22:25150111C>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.847G>A	22.37:g.25150111C>T	ENSP00000330031:p.Asp283Asn		Somatic				PIWIL3_ENST00000533313.1_Missense_Mutation_p.D174N|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D174N	p.D283N	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	WXS	Illumina GAIIx	Phase_I	Q7Z3Z3	PIWL3_HUMAN			8	1263	-			283						Missense_Mutation	SNP	ENST00000332271.5	37	c.847G>A	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749054	0.49257	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.26373	1.74;1.74;1.74	2.42	2.42	0.29668	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	U	0.000000	T	0.47875	0.1469	M	0.77406	2.37	0.54753	D	0.999983	D;D;D	0.89917	1.0;0.994;0.986	D;P;P	0.77557	0.99;0.854;0.733	T	0.53070	-0.8490	10	0.62326	D	0.03	-13.552	10.9534	0.47343	0.0:1.0:0.0:0.0	.	174;283;283	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	N	283;174;174	ENSP00000330031:D283N;ENSP00000431843:D174N;ENSP00000435718:D174N	ENSP00000330031:D283N	D	-	1	0	PIWIL3	23480111	1.000000	0.71417	0.312000	0.25196	0.495000	0.33615	4.552000	0.60747	1.678000	0.50952	0.462000	0.41574	GAT		0.408	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		17	32	0	0	0	1	0	17	32					T	25150111	C	T	25150111	3	4	48	1	0	0	0	0	1	0	0	0	11968	884	31	1	1857	1	PIWIL3	22	25150111	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	238786	25150111	26154455	4332	8800										
PIWIL3	440822	broad.mit.edu	37	chr22	25152504	25152504	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ataaagagtttccatcaaatAtatggcgctctccaaatttc	5	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:25152504A>G	ENST00000332271.5	-	5	940	c.524T>C	c.(523-525)aTa>aCa	p.I175T	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.I66T|PIWIL3_ENST00000527701.1_Missense_Mutation_p.I66T	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	175					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						TCCATCAAATATATGGCGCTC	0.343																																						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.(523-525)aTa>aCa		piwi-like RNA-mediated gene silencing 3							89	90	90					22																	25152504		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.chr22:25152504A>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.524T>C	22.37:g.25152504A>G	ENSP00000330031:p.Ile175Thr		Somatic				PIWIL3_ENST00000533313.1_Missense_Mutation_p.I66T|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.I66T	p.I175T	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	WXS	Illumina GAIIx	Phase_I	Q7Z3Z3	PIWL3_HUMAN			5	940	-			175						Missense_Mutation	SNP	ENST00000332271.5	37	c.524T>C	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	A	4.241	0.043616	0.08196	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.12774	2.65;2.65;2.65	2.51	1.46	0.22682	Argonaute/Dicer protein, PAZ (1);	0.369501	0.27705	U	0.018189	T	0.10895	0.0266	L	0.49350	1.555	0.09310	N	1	B;P;B	0.47484	0.032;0.896;0.112	B;B;B	0.41466	0.013;0.358;0.05	T	0.16571	-1.0398	10	0.36615	T	0.2	-10.0379	4.4889	0.11803	0.6974:0.0:0.3026:0.0	.	66;175;175	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	T	175;66;66	ENSP00000330031:I175T;ENSP00000431843:I66T;ENSP00000435718:I66T	ENSP00000330031:I175T	I	-	2	0	PIWIL3	23482504	0.907000	0.30839	0.004000	0.12327	0.300000	0.27592	2.720000	0.47252	0.392000	0.25172	0.374000	0.22700	ATA		0.343	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		9	18	0	0	0	1	0	9	18					G	25152504	A	G	25152504	3	3	48	1	0	0	0	0	1	0	0	0	11968	449	16	4	2192	4	PIWIL3	22	25152504	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2393	25152504	26152062	4333	8801										
ADRBK2	157	broad.mit.edu	37	chr22	26000402	26000402	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgaaataacctttgacaagAttttcaatcagaaaattggt	6	5	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:26000402A>C	ENST00000324198.6	+	2	364	c.172A>C	c.(172-174)Att>Ctt	p.I58L		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	58	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CTTTGACAAGATTTTCAATCA	0.378																																						ENST00000324198.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32						c.(172-174)Att>Ctt		adrenergic, beta, receptor kinase 2	Adenosine triphosphate(DB00171)						115	106	109					22																	26000402		2203	4300	6503	SO:0001583	missense	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26000402A>C	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"Pleckstrin homology (PH) domain containing"	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.172A>C	22.37:g.26000402A>C	ENSP00000317578:p.Ile58Leu		Somatic					p.I58L	NM_005160.3	NP_005151.2	WXS	Illumina GAIIx	Phase_I	P35626	ARBK2_HUMAN			2	364	+			58			N-terminal.|RGS.		Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.172A>C	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.240473	0.79912	.	.	ENSG00000100077	ENST00000324198;ENST00000545323	T	0.01887	4.58	4.37	4.37	0.52481	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000001	T	0.10294	0.0252	M	0.73598	2.24	0.58432	D	0.999998	B;P	0.50617	0.326;0.937	P;D	0.85130	0.617;0.997	T	0.21484	-1.0244	10	0.22706	T	0.39	-22.638	11.5677	0.50815	1.0:0.0:0.0:0.0	.	58;58	A8K869;P35626	.;ARBK2_HUMAN	L	58	ENSP00000317578:I58L	ENSP00000317578:I58L	I	+	1	0	ADRBK2	24330402	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.740000	0.68629	1.828000	0.53243	0.528000	0.53228	ATT		0.378	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		22	43	0	0	0	1	0	22	43					C	26000402	A	C	26000402	3	2	48	1	0	0	0	0	1	0	0	0	344	333	12	4	178	4	ADRBK2	22	26000402	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	847898	26000402	25304164	4334	8802										
MYO18B	84700	broad.mit.edu	37	chr22	26343735	26343735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggacctcctgaagcgcatcGatgaggaccaggatgacctg	13	12	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:26343735G>A	ENST00000407587.2	+	36	5861	c.5692G>A	c.(5692-5694)Gat>Aat	p.D1898N	MYO18B_ENST00000536101.1_Missense_Mutation_p.D1897N|MYO18B_ENST00000335473.7_Missense_Mutation_p.D1897N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1897	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAGCGCATCGATGAGGACCA	0.552																																						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.(5689-5691)Gat>Aat		myosin XVIIIB							71	73	72					22																	26343735		2089	4228	6317	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26343735G>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.5692G>A	22.37:g.26343735G>A	ENSP00000386096:p.Asp1898Asn		Somatic				MYO18B_ENST00000536101.1_Missense_Mutation_p.D1897N|MYO18B_ENST00000407587.2_Missense_Mutation_p.D1898N	p.D1897N	NM_032608.5	NP_115997.5	WXS	Illumina GAIIx	Phase_I	Q8IUG5	MY18B_HUMAN			36	5939	+			1897			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.5689G>A		.	.	.	.	.	.	.	.	.	.	G	20.7	4.026681	0.75390	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86865	-2.16;-2.16;-2.18	5.06	5.06	0.68205	.	0.310681	0.30028	N	0.010591	D	0.90707	0.7084	L	0.54323	1.7	0.40357	D	0.979199	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	P;D;D;D	0.69824	0.807;0.926;0.954;0.966	D	0.91522	0.5235	10	0.87932	D	0	.	11.5772	0.50869	0.0877:0.0:0.9123:0.0	.	1410;1897;1898;1897	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	N	1897;1897;1898	ENSP00000441229:D1897N;ENSP00000334563:D1897N;ENSP00000386096:D1898N	ENSP00000334563:D1897N	D	+	1	0	MYO18B	24673735	1.000000	0.71417	0.106000	0.21319	0.672000	0.39443	7.274000	0.78538	2.360000	0.80028	0.655000	0.94253	GAT		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		22	30	0	0	0	1	0	22	30					A	26343735	G	A	26343735	3	1	48	1	0	0	0	0	1	0	0	0	10075	1058	37	1	5827	1	MYO18B	22	26343735	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	343333	26343735	24960831	4335	8803										
MYO18B	84700	broad.mit.edu	37	chr22	26400763	26400763	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtactctgtccctggccacaGatactatgaggactccttct	8	13	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:26400763G>T	ENST00000407587.2	+	42	6584	c.6415G>T	c.(6415-6417)Gat>Tat	p.D2139Y	MYO18B_ENST00000536101.1_Missense_Mutation_p.D2138Y|MYO18B_ENST00000335473.7_Missense_Mutation_p.D2138Y			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2138						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						CCTGGCCACAGATACTATGAG	0.552																																						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.(6412-6414)Gat>Tat		myosin XVIIIB							97	101	99					22																	26400763		2132	4264	6396	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26400763G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6415G>T	22.37:g.26400763G>T	ENSP00000386096:p.Asp2139Tyr		Somatic				MYO18B_ENST00000536101.1_Missense_Mutation_p.D2138Y|MYO18B_ENST00000407587.2_Missense_Mutation_p.D2139Y	p.D2138Y	NM_032608.5	NP_115997.5	WXS	Illumina GAIIx	Phase_I	Q8IUG5	MY18B_HUMAN			42	6662	+			2138					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6412G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.66|12.66	2.004233|2.004233	0.35320|0.35320	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.88277|.	-2.34;-2.34;-2.36|.	4.33|4.33	3.28|3.28	0.37604|0.37604	.|.	0.623793|.	0.14161|.	N|.	0.337368|.	T|T	0.45074|0.45074	0.1324|0.1324	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	D;D;D;D;D|.	0.76494|.	0.998;0.999;0.999;0.999;0.999|.	D;P;P;D;D|.	0.66847|.	0.935;0.887;0.887;0.947;0.947|.	T|T	0.28650|0.28650	-1.0037|-1.0037	10|5	0.72032|.	D|.	0.01|.	.|.	8.2494|8.2494	0.31708|0.31708	0.1114:0.0:0.8886:0.0|0.1114:0.0:0.8886:0.0	.|.	1651;2140;2138;2139;2138|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	Y|H	2138;2138;2139|87	ENSP00000441229:D2138Y;ENSP00000334563:D2138Y;ENSP00000386096:D2139Y|.	ENSP00000334563:D2138Y|.	D|Q	+|+	1|3	0|2	MYO18B|MYO18B	24730763|24730763	0.294000|0.294000	0.24380|0.24380	0.624000|0.624000	0.29186|0.29186	0.411000|0.411000	0.31082|0.31082	2.170000|2.170000	0.42443|0.42443	2.246000|2.246000	0.74042|0.74042	0.650000|0.650000	0.86243|0.86243	GAT|CAG		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		9	101	1	0	1.76689e-08	1	2.08373e-08	9	101					T	26400763	G	T	26400763	3	4	48	1	0	0	0	0	1	0	0	0	10075	942	33	2	6574	2	MYO18B	22	26400763	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	57028	26400763	24903803	4336	8804										
HPS4	89781	broad.mit.edu	37	chr22	26868837	26868837	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtccattgtaaaaattaaaGaatccaactagctgatccag	7	8	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:26868837G>T	ENST00000398145.2	-	5	961	c.345C>A	c.(343-345)ttC>ttA	p.F115L	HPS4_ENST00000402105.3_Missense_Mutation_p.F110L|HPS4_ENST00000336873.5_Missense_Mutation_p.F115L|HPS4_ENST00000398141.1_Missense_Mutation_p.F110L	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	115					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AAAAATTAAAGAATCCAACTA	0.463									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(343-345)ttC>ttA		Hermansky-Pudlak syndrome 4							106	109	108					22																	26868837		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26868837G>T		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.345C>A	22.37:g.26868837G>T	ENSP00000381213:p.Phe115Leu		Somatic				HPS4_ENST00000398141.1_Missense_Mutation_p.F110L|HPS4_ENST00000402105.3_Missense_Mutation_p.F110L|HPS4_ENST00000336873.5_Missense_Mutation_p.F115L	p.F115L	NM_022081.4	NP_071364.4	WXS	Illumina GAIIx	Phase_I	Q9NQG7	HPS4_HUMAN			5	961	-			115					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.345C>A	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	G	2.475	-0.320915	0.05386	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45	5.27	2.01	0.26516	.	0.260402	0.39341	N	0.001394	T	0.63733	0.2536	N	0.01576	-0.805	0.30281	N	0.791296	B;B;B	0.14012	0.009;0.004;0.004	B;B;B	0.18561	0.022;0.004;0.004	T	0.59836	-0.7379	10	0.02654	T	1	-8.062	5.4476	0.16544	0.2503:0.1454:0.6043:0.0	.	115;115;110	Q6ICH6;Q9NQG7;Q9NQG7-3	.;HPS4_HUMAN;.	L	115;110;110;115;115;115	ENSP00000381213:F115L;ENSP00000381210:F110L;ENSP00000384185:F110L;ENSP00000338457:F115L;ENSP00000415081:F115L	ENSP00000325840:F115L	F	-	3	2	HPS4	25198837	1.000000	0.71417	0.419000	0.26584	0.563000	0.35712	0.524000	0.22940	0.783000	0.33636	0.655000	0.94253	TTC		0.463	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		43	78	1	0	1.23103e-26	1	1.74228e-26	43	78					T	26868837	G	T	26868837	3	4	48	1	0	0	0	0	1	0	0	0	7350	933	33	2	1821	2	HPS4	22	26868837	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	468074	26868837	24435729	4337	8805										
CHEK2	11200	broad.mit.edu	37	chr22	29091232	29091232	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggtggatacccactaaggcTtaatattggtagagagagaa	12	5	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:29091232T>G	ENST00000405598.1	-	13	1451		c.e13-2		CHEK2_ENST00000328354.6_Splice_Site|CHEK2_ENST00000402731.1_Splice_Site|CHEK2_ENST00000382566.1_Splice_Site|CHEK2_ENST00000382580.2_Splice_Site|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000403642.1_Splice_Site|CHEK2_ENST00000348295.3_Splice_Site|CHEK2_ENST00000544772.1_Splice_Site|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Splice_Site|CHEK2_ENST00000382578.1_Splice_Site			O96017	CHK2_HUMAN	checkpoint kinase 2						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)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCACTAAGGCTTAATATTGGT	0.388			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.e13-2	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							39	36	37					22																	29091232		2202	4300	6502	SO:0001630	splice_region_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091232T>G	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1260-2A>C	22.37:g.29091232T>G			Somatic				CHEK2_ENST00000382566.1_Splice_Site|CHEK2_ENST00000402731.1_Splice_Site|CHEK2_ENST00000404276.1_Splice_Site|CHEK2_ENST00000348295.3_Splice_Site|CHEK2_ENST00000403642.1_Splice_Site|CHEK2_ENST00000328354.6_Splice_Site|CHEK2_ENST00000382580.2_Splice_Site|CHEK2_ENST00000405598.1_Splice_Site|CHEK2_ENST00000382578.1_Splice_Site|CHEK2_ENST00000382565.1_Intron		NM_001257387.1	NP_001244316.1	WXS	Illumina GAIIx	Phase_I	O96017	CHK2_HUMAN			13	2033	-								A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Splice_Site	SNP	ENST00000405598.1	37		CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174262	0.78452	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3347	0.74241	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHEK2	27421232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.982000	0.63825	2.217000	0.71921	0.528000	0.53228	.		0.388	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735	Intron	7	10	0	0	0	1	0	7	10					G	29091232	T	G	29091232	5	3	48	1	0	0	0	0	0	0	1	0	3337	1623	56	4	389	4	CHEK2	22	29091232	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2222395	29091232	22213334	4338	8806										
C22orf31	25770	broad.mit.edu	37	chr22	29454749	29454749	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctattttttgctctttaacTtgggccatttcttgagtaca	6	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:29454749T>G	ENST00000216071.4	-	3	905	c.854A>C	c.(853-855)aAg>aCg	p.K285T		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	285										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						GCTCTTTAACTTGGGCCATTT	0.483																																						ENST00000216071.4																			0				cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						c.(853-855)aAg>aCg		chromosome 22 open reading frame 31							120	102	108					22																	29454749		2203	4300	6503	SO:0001583	missense	25770							g.chr22:29454749T>G	AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.854A>C	22.37:g.29454749T>G	ENSP00000216071:p.Lys285Thr		Somatic					p.K285T	NM_015370.1	NP_056185.1	WXS	Illumina GAIIx	Phase_I	O95567	CV031_HUMAN			3	905	-			285					A0AV97	Missense_Mutation	SNP	ENST00000216071.4	37	c.854A>C	CCDS13848.1	.	.	.	.	.	.	.	.	.	.	T	10.15	1.272391	0.23221	.	.	ENSG00000100249	ENST00000216071	T	0.37752	1.18	5.55	3.46	0.39613	.	0.441828	0.21403	N	0.075112	T	0.37183	0.0994	L	0.29908	0.895	0.24901	N	0.992104	D	0.57257	0.979	P	0.56563	0.801	T	0.13098	-1.0522	10	0.72032	D	0.01	-4.2492	6.9076	0.24317	0.0:0.1767:0.0:0.8233	.	285	O95567	CV031_HUMAN	T	285	ENSP00000216071:K285T	ENSP00000216071:K285T	K	-	2	0	C22orf31	27784749	0.858000	0.29795	0.896000	0.35187	0.017000	0.09413	0.815000	0.27253	0.548000	0.28955	0.533000	0.62120	AAG		0.483	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	NM_015370		6	88	0	0	0	1	0	6	88					G	29454749	T	G	29454749	3	3	48	1	0	0	0	0	1	0	0	0	2145	1609	56	4	22	4	C22orf31	22	29454749	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	363517	29454749	21849817	4339	8807										
THOC5	8563	broad.mit.edu	37	chr22	29915099	29915099	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgctcagcgagtggtcagcaAtcactgtttgctgtgagtga	13	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:29915099A>C	ENST00000490103.1	-	15	1507	c.1385T>G	c.(1384-1386)aTt>aGt	p.I462S	THOC5_ENST00000397871.1_Missense_Mutation_p.I462S|THOC5_ENST00000397872.1_Missense_Mutation_p.I462S|THOC5_ENST00000397873.2_Missense_Mutation_p.I462S|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	462					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						GTGGTCAGCAATCACTGTTTG	0.582																																						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.(1384-1386)aTt>aGt		THO complex 5							163	125	138					22																	29915099		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.chr22:29915099A>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.1385T>G	22.37:g.29915099A>C	ENSP00000420306:p.Ile462Ser		Somatic				CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397873.2_Missense_Mutation_p.I462S|THOC5_ENST00000397871.1_Missense_Mutation_p.I462S|THOC5_ENST00000397872.1_Missense_Mutation_p.I462S	p.I462S	NM_003678.4	NP_003669.4	WXS	Illumina GAIIx	Phase_I	Q13769	THOC5_HUMAN			15	1507	-			462					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.1385T>G	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023330	0.35701	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.76	4.67	0.58626	.	0.600198	0.18378	N	0.143053	T	0.06280	0.0162	N	0.02011	-0.69	0.27411	N	0.954569	B	0.02656	0.0	B	0.04013	0.001	T	0.35450	-0.9788	10	0.07325	T	0.83	-11.9305	6.3541	0.21393	0.8411:0.0:0.1589:0.0	.	462	Q13769	THOC5_HUMAN	S	462	ENSP00000420306:I462S;ENSP00000380970:I462S;ENSP00000380969:I462S;ENSP00000380971:I462S	ENSP00000380969:I462S	I	-	2	0	THOC5	28245099	0.126000	0.22350	0.732000	0.30844	0.841000	0.47740	2.992000	0.49417	2.201000	0.70794	0.533000	0.62120	ATT		0.582	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		30	58	0	0	0	1	0	30	58					C	29915099	A	C	29915099	3	2	48	1	0	0	0	0	1	0	0	0	15883	101	4	4	690	4	THOC5	22	29915099	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	460350	29915099	21389467	4340	8808										
DRG1	4733	broad.mit.edu	37	chr22	31829935	31829935	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacgttggaggatgaggatgTcattcaaattgtgaagaagt	13	3	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:31829935T>C	ENST00000331457.4	+	9	1243	c.1082T>C	c.(1081-1083)gTc>gCc	p.V361A		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	361					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						GATGAGGATGTCATTCAAATT	0.478																																						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.(1081-1083)gTc>gCc		developmentally regulated GTP binding protein 1							151	121	131					22																	31829935		2203	4300	6503	SO:0001583	missense	4733				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	g.chr22:31829935T>C	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.1082T>C	22.37:g.31829935T>C	ENSP00000329715:p.Val361Ala		Somatic					p.V361A	NM_004147.3	NP_004138.1	WXS	Illumina GAIIx	Phase_I	Q9Y295	DRG1_HUMAN			9	1243	+			361					B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Missense_Mutation	SNP	ENST00000331457.4	37	c.1082T>C	CCDS13897.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794372	0.90453	.	.	ENSG00000185721	ENST00000331457	T	0.28454	1.61	5.29	5.29	0.74685	TGS-like (1);TGS (1);	0.059961	0.64402	D	0.000003	T	0.70281	0.3206	H	0.98883	4.36	0.80722	D	1	D	0.67145	0.996	D	0.67900	0.954	T	0.82647	-0.0354	10	0.87932	D	0	-7.9283	13.2637	0.60120	0.0:0.0:0.0:1.0	.	361	Q9Y295	DRG1_HUMAN	A	361	ENSP00000329715:V361A	ENSP00000329715:V361A	V	+	2	0	DRG1	30159935	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.275000	0.65575	2.135000	0.66039	0.533000	0.62120	GTC		0.478	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075680.5	NM_004147		14	29	0	0	0	1	0	14	29					C	31829935	T	C	31829935	3	2	48	1	0	0	0	0	1	0	0	0	4763	1667	58	4	1116	4	DRG1	22	31829935	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1914836	31829935	19474631	4341	8809										
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31859097	31859097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctacgctcaccaaagacaCgcttactatctccaaactct	3	15	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:31859097C>T	ENST00000397525.1	-	6	831	c.608G>A	c.(607-609)cGt>cAt	p.R203H	EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R203H|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R203H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	203	Arg-rich.					cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACCAAAGACACGCTTACTATC	0.403																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(607-609)cGt>cAt		eukaryotic translation initiation factor 4E nuclear import factor 1							92	80	84					22																	31859097		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31859097C>T	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.608G>A	22.37:g.31859097C>T	ENSP00000380659:p.Arg203His		Somatic				RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R203H|RP11-247I13.11_ENST00000464523.1_RNA|RP11-247I13.8_ENST00000439588.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R203H	p.R203H	NM_001164501.1	NP_001157973.1	WXS	Illumina GAIIx	Phase_I	Q9NRA8	4ET_HUMAN			6	831	-			203			Arg-rich.		B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.608G>A	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308286	0.95629	.	.	ENSG00000184708	ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671	.	.	.	5.51	5.51	0.81932	.	0.054061	0.64402	D	0.000001	T	0.78966	0.4367	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77892	-0.2418	9	0.46703	T	0.11	-11.8609	18.4292	0.90619	0.0:1.0:0.0:0.0	.	203	Q9NRA8	4ET_HUMAN	H	203	.	ENSP00000328103:R203H	R	-	2	0	EIF4ENIF1	30189097	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.220000	0.78008	2.781000	0.95711	0.650000	0.86243	CGT		0.403	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		3	24	0	0	0	1	0	3	24					T	31859097	C	T	31859097	3	4	48	1	0	0	0	0	1	0	0	0	5037	536	19	1	2408	1	EIF4ENIF1	22	31859097	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	29162	31859097	19445469	4342	8810										
DEPDC5	9681	broad.mit.edu	37	chr22	32289731	32289731	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgaccgcagcagtactcttCgagatggtgagaaccttcat	11	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32289731C>T	ENST00000382112.3	+	38	4240	c.4170C>T	c.(4168-4170)ttC>ttT	p.F1390F	DEPDC5_ENST00000535622.1_Silent_p.F1299F|DEPDC5_ENST00000539165.1_Silent_p.F216F|DEPDC5_ENST00000266091.3_Silent_p.F1377F|DEPDC5_ENST00000382111.2_Silent_p.F1399F|DEPDC5_ENST00000400248.2_Silent_p.F1368F|DEPDC5_ENST00000400246.1_Silent_p.F1399F|DEPDC5_ENST00000400249.2_Silent_p.F1368F|DEPDC5_ENST00000382105.2_3'UTR	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1399					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						CAGTACTCTTCGAGATGGTGA	0.483																																						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.(4195-4197)ttC>ttT		DEP domain containing 5							63	66	65					22																	32289731		2046	4191	6237	SO:0001819	synonymous_variant	9681				intracellular signal transduction			g.chr22:32289731C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.4170C>T	22.37:g.32289731C>T			Somatic				DEPDC5_ENST00000535622.1_Silent_p.F1299F|DEPDC5_ENST00000400248.1_Silent_p.F1368F|DEPDC5_ENST00000266091.3_Silent_p.F1377F|DEPDC5_ENST00000400249.2_Silent_p.F1368F|DEPDC5_ENST00000382112.3_Silent_p.F1390F|DEPDC5_ENST00000539165.1_Silent_p.F216F|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000382111.2_Silent_p.F1399F	p.F1399F			WXS	Illumina GAIIx	Phase_I	O75140	DEPD5_HUMAN			39	4339	+			1368	L -> P (in Ref. 6; CAH18159).				A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	c.4197C>T	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	C	9.937	1.216426	0.22373	.	.	ENSG00000100150	ENST00000433147	.	.	.	5.12	-5.1	0.02911	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1987	0.73116	0.0:0.1565:0.0:0.8435	.	.	.	.	X	775	.	.	R	+	1	2	DEPDC5	30619731	0.026000	0.19158	0.987000	0.45799	0.972000	0.66771	-1.008000	0.03663	-0.634000	0.05538	-0.140000	0.14226	CGA		0.483	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		26	31	0	0	0	1	0	26	31					T	32289731	C	T	32289731	2	4	48	1	0	0	0	0	0	0	0	1	4444	883	31	1		1	DEPDC5	22	32289731	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	430634	32289731	19014835	4343	8811										
SLC5A4	6527	broad.mit.edu	37	chr22	32651209	32651209	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaacagccatcaccaccagAaaatagatgacaatgactga	6	12	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32651209A>C	ENST00000266086.4	-	1	119	c.108T>G	c.(106-108)ttT>ttG	p.F36L	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	36					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCACCACCAGAAAATAGATGA	0.542																																						ENST00000266086.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(106-108)ttT>ttG		solute carrier family 5 (glucose activated ion channel), member 4							236	203	214					22																	32651209		2203	4300	6503	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32651209A>C	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"Solute carriers"	11039	protein-coding gene	gene with protein product			"solute carrier family 5 (low affinity glucose cotransporter), member 4"			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.108T>G	22.37:g.32651209A>C	ENSP00000266086:p.Phe36Leu		Somatic				RP1-90G24.10_ENST00000434942.1_RNA	p.F36L	NM_014227.2	NP_055042.1	WXS	Illumina GAIIx	Phase_I	Q9NY91	SC5A4_HUMAN			1	119	-			36					O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.108T>G	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.516284	0.44763	.	.	ENSG00000100191	ENST00000266086	D	0.85258	-1.96	5.26	-3.35	0.04928	.	0.000000	0.85682	D	0.000000	D	0.86632	0.5979	H	0.94306	3.52	0.36741	D	0.882237	B	0.14012	0.009	B	0.17979	0.02	T	0.79184	-0.1908	10	0.62326	D	0.03	.	11.4501	0.50147	0.6838:0.0:0.3162:0.0	.	36	Q9NY91	SC5A4_HUMAN	L	36	ENSP00000266086:F36L	ENSP00000266086:F36L	F	-	3	2	SLC5A4	30981209	0.000000	0.05858	0.014000	0.15608	0.943000	0.58893	-0.272000	0.08560	-0.453000	0.07076	0.528000	0.53228	TTT		0.542	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		76	120	0	0	0	1	0	76	120					C	32651209	A	C	32651209	3	2	48	1	0	0	0	0	1	0	0	0	14682	243	9	4	1931	4	SLC5A4	22	32651209	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	361478	32651209	18653357	4344	8812										
RFPL3	10738	broad.mit.edu	37	chr22	32754065	32754065	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caatacctctatgcatgaaaAggttgtcacttgtcacaact	6	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32754065A>C	ENST00000249007.4	+	1	212	c.7A>C	c.(7-9)Agg>Cgg	p.R3R	RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000382088.3_5'Flank|RFPL3_ENST00000397468.1_Intron	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	3							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						ATGCATGAAAAGGTTGTCACT	0.483																																						ENST00000249007.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(7-9)Agg>Cgg		ret finger protein-like 3							101	103	102					22																	32754065		2203	4300	6503	SO:0001819	synonymous_variant	10738						zinc ion binding	g.chr22:32754065A>C	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.7A>C	22.37:g.32754065A>C			Somatic				RFPL3_ENST00000397468.1_Intron	p.R3R	NM_001098535.1	NP_001092005.1	WXS	Illumina GAIIx	Phase_I	O75679	RFPL3_HUMAN			1	212	+			3					A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Silent	SNP	ENST00000249007.4	37	c.7A>C	CCDS43011.1																																																																																				0.483	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		29	64	0	0	0	1	0	29	64					C	32754065	A	C	32754065	2	2	48	1	0	0	0	0	0	0	0	1	13270	63	3	4		4	RFPL3	22	32754065	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	102856	32754065	18550501	4345	8813										
BPIL2	254240	broad.mit.edu	37	chr22	32811907	32811907	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatttgcattcttacctcaaGaacttcaatatctgaattga	5	8	4	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32811907G>T	ENST00000397452.1	-	15	1506	c.1396C>A	c.(1396-1398)Ctt>Att	p.L466I	BPIFC_ENST00000300399.3_Missense_Mutation_p.L466I|BPIFC_ENST00000534972.1_Missense_Mutation_p.L190I|BPIFC_ENST00000432451.2_Missense_Mutation_p.L223I			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	466						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										CTTACCTCAAGAACTTCAATA	0.343																																						ENST00000397452.1																			0											c.(1396-1398)Ctt>Att		BPI fold containing family C							82	82	82					22																	32811907		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32811907G>T	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1396C>A	22.37:g.32811907G>T	ENSP00000380594:p.Leu466Ile		Somatic				BPIFC_ENST00000300399.3_Missense_Mutation_p.L466I|BPIFC_ENST00000432451.2_Missense_Mutation_p.L223I|BPIFC_ENST00000534972.1_Missense_Mutation_p.L190I	p.L466I			WXS	Illumina GAIIx	Phase_I	Q8NFQ6	BPIL2_HUMAN			15	1506	-			466					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.1396C>A	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442449	0.43326	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972;ENST00000432451	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	5.5	3.37	0.38596	.	0.545093	0.19916	N	0.103184	T	0.10208	0.0250	L	0.52573	1.65	0.29809	N	0.831819	B;B	0.32653	0.257;0.379	B;B	0.33846	0.171;0.129	T	0.12682	-1.0538	10	0.22706	T	0.39	-8.2855	7.9421	0.29965	0.1963:0.0:0.8037:0.0	.	223;466	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	I	466;466;190;223	ENSP00000380594:L466I;ENSP00000300399:L466I;ENSP00000439123:L190I;ENSP00000408920:L223I	ENSP00000300399:L466I	L	-	1	0	BPIFC	31141907	0.023000	0.18921	0.946000	0.38457	0.935000	0.57460	0.058000	0.14301	0.750000	0.32877	0.650000	0.86243	CTT		0.343	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		12	13	1	0	0.105934	1	0.10725	12	13					T	32811907	G	T	32811907	3	4	48	1	0	0	0	0	1	0	0	0	1494	942	33	2	135	2	BPIL2	22	32811907	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	57842	32811907	18492659	4346	8814										
BPIL2	254240	broad.mit.edu	37	chr22	32831749	32831749	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaaatgagcaaaggacgcaGatttaaagaaatactcggcg	11	6	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32831749G>T	ENST00000397452.1	-	9	976	c.866C>A	c.(865-867)tCt>tAt	p.S289Y	BPIFC_ENST00000300399.3_Missense_Mutation_p.S289Y|BPIFC_ENST00000534972.1_Missense_Mutation_p.S13Y|BPIFC_ENST00000432451.2_Missense_Mutation_p.S103Y			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	289						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										AAAGGACGCAGATTTAAAGAA	0.488																																						ENST00000397452.1																			0											c.(865-867)tCt>tAt		BPI fold containing family C							81	82	82					22																	32831749		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32831749G>T	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.866C>A	22.37:g.32831749G>T	ENSP00000380594:p.Ser289Tyr		Somatic				BPIFC_ENST00000300399.3_Missense_Mutation_p.S289Y|BPIFC_ENST00000432451.2_Missense_Mutation_p.S103Y|BPIFC_ENST00000534972.1_Missense_Mutation_p.S13Y	p.S289Y			WXS	Illumina GAIIx	Phase_I	Q8NFQ6	BPIL2_HUMAN			9	976	-			289					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.866C>A	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950553	0.73787	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972;ENST00000432451	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.65	5.65	0.86999	.	0.056069	0.64402	D	0.000001	T	0.42268	0.1195	M	0.85373	2.75	0.45718	D	0.998622	D;D	0.65815	0.995;0.995	D;D	0.66716	0.946;0.913	T	0.40590	-0.9555	10	0.87932	D	0	-14.6897	16.6424	0.85129	0.0:0.0:1.0:0.0	.	103;289	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	Y	289;289;13;103	ENSP00000380594:S289Y;ENSP00000300399:S289Y;ENSP00000439123:S13Y;ENSP00000408920:S103Y	ENSP00000300399:S289Y	S	-	2	0	BPIFC	31161749	1.000000	0.71417	0.889000	0.34880	0.757000	0.42996	5.598000	0.67585	2.660000	0.90430	0.650000	0.86243	TCT		0.488	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		12	55	1	0	2.80697e-09	1	3.36108e-09	12	55					T	32831749	G	T	32831749	3	4	48	1	0	0	0	0	1	0	0	0	1494	942	33	2	689	2	BPIL2	22	32831749	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	19842	32831749	18472817	4347	8815										
FBXO7	25793	broad.mit.edu	37	chr22	32894360	32894360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattcctggtcctggggagaCgcccagccagtttcctccac	10	16	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32894360C>T	ENST00000266087.7	+	9	1739	c.1412C>T	c.(1411-1413)aCg>aTg	p.T471M	FBXO7_ENST00000397426.1_Missense_Mutation_p.T357M|FBXO7_ENST00000382058.3_Missense_Mutation_p.T392M	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	471	Important for interaction with CDK6.|Pro-rich.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTGGGGAGACGCCCAGCCAG	0.562																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1411-1413)aCg>aTg		F-box protein 7							92	85	87					22																	32894360		2203	4300	6503	SO:0001583	missense	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32894360C>T	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1412C>T	22.37:g.32894360C>T	ENSP00000266087:p.Thr471Met		Somatic				FBXO7_ENST00000397426.1_Missense_Mutation_p.T357M|FBXO7_ENST00000382058.3_Missense_Mutation_p.T392M	p.T471M	NM_012179.3	NP_036311.3	WXS	Illumina GAIIx	Phase_I	Q9Y3I1	FBX7_HUMAN			9	1739	+			471					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	c.1412C>T	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	C	9.020	0.984659	0.18889	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.72615	-0.67;-0.11;-0.1	5.93	1.49	0.22878	.	0.404800	0.25726	N	0.028715	T	0.66829	0.2829	L	0.56769	1.78	0.09310	N	1	P;D;P	0.56746	0.918;0.977;0.863	B;P;B	0.46362	0.33;0.514;0.33	T	0.59963	-0.7355	10	0.42905	T	0.14	-0.1531	10.3115	0.43712	0.0:0.6803:0.0:0.3197	.	471;392;471	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	M	471;392;357	ENSP00000266087:T471M;ENSP00000371490:T392M;ENSP00000380571:T357M	ENSP00000266087:T471M	T	+	2	0	FBXO7	31224360	0.001000	0.12720	0.029000	0.17559	0.217000	0.24651	0.080000	0.14802	0.122000	0.18314	0.655000	0.94253	ACG		0.562	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			34	75	0	0	0	1	0	34	75					T	32894360	C	T	32894360	3	4	48	1	0	0	0	0	1	0	0	0	5768	536	19	1	1487	1	FBXO7	22	32894360	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	62611	32894360	18410206	4348	8816										
HMGXB4	10042	broad.mit.edu	37	chr22	35661203	35661203	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggtctgacgcctcccagttCgcagagtcccacagtgctaa	11	14	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:35661203C>T	ENST00000216106.5	+	5	950	c.822C>T	c.(820-822)ttC>ttT	p.F274F	HMGXB4_ENST00000444518.2_Silent_p.F165F	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	274					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)	p.F274F(1)		breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTCCCAGTTCGCAGAGTCCC	0.522																																						ENST00000216106.5																			1	Substitution - coding silent(1)	p.F274F(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(820-822)ttC>ttT		HMG box domain containing 4							75	73	73					22																	35661203		2203	4300	6503	SO:0001819	synonymous_variant	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35661203C>T	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.822C>T	22.37:g.35661203C>T			Somatic				HMGXB4_ENST00000444518.2_Silent_p.F165F	p.F274F	NM_001003681.2	NP_001003681.1	WXS	Illumina GAIIx	Phase_I	Q9UGU5	HMGX4_HUMAN			5	950	+			274					O75672|O75673|Q9UMT5	Silent	SNP	ENST00000216106.5	37	c.822C>T	CCDS33641.1																																																																																				0.522	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		23	47	0	0	0	1	0	23	47					T	35661203	C	T	35661203	2	4	48	1	0	0	0	0	0	0	0	1	7248	883	31	1		1	HMGXB4	22	35661203	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2766843	35661203	15643363	4349	8817										
MCM5	4174	broad.mit.edu	37	chr22	35815913	35815913	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtcagcagaggctgcagaGaaactgaagaaccgctacat	11	10	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:35815913G>T	ENST00000216122.4	+	14	1894	c.1740G>T	c.(1738-1740)gaG>gaT	p.E580D	MCM5_ENST00000382011.5_Missense_Mutation_p.E537D	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	580					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						AGGCTGCAGAGAAACTGAAGA	0.632																																						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.(1738-1740)gaG>gaT		minichromosome maintenance complex component 5							59	62	61					22																	35815913		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.chr22:35815913G>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.1740G>T	22.37:g.35815913G>T	ENSP00000216122:p.Glu580Asp		Somatic				MCM5_ENST00000382011.5_Missense_Mutation_p.E537D	p.E580D	NM_006739.3	NP_006730.2	WXS	Illumina GAIIx	Phase_I	P33992	MCM5_HUMAN			14	1894	+			580					O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.1740G>T	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567644	0.65651	.	.	ENSG00000100297	ENST00000216122;ENST00000382011	T;T	0.07327	3.2;3.2	5.45	5.45	0.79879	.	0.052124	0.85682	D	0.000000	T	0.08980	0.0222	L	0.31845	0.965	0.80722	D	1	B;B;B;B	0.17465	0.022;0.022;0.001;0.022	B;B;B;B	0.26864	0.074;0.074;0.019;0.074	T	0.10965	-1.0607	10	0.54805	T	0.06	-36.6975	12.6147	0.56569	0.0756:0.0:0.9244:0.0	.	580;580;537;580	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	D	580;537	ENSP00000216122:E580D;ENSP00000371441:E537D	ENSP00000216122:E580D	E	+	3	2	MCM5	34145913	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	5.757000	0.68766	2.558000	0.86282	0.549000	0.68633	GAG		0.632	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			23	60	1	0	3.5997e-14	1	4.67138e-14	23	60					T	35815913	G	T	35815913	3	4	48	1	0	0	0	0	1	0	0	0	9399	933	33	2	1790	2	MCM5	22	35815913	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	154710	35815913	15488653	4350	8818										
APOL5	80831	broad.mit.edu	37	chr22	36122895	36122895	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcttcatggctatggtcaaGaattttgtggccaagagaca	12	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:36122895G>T	ENST00000249044.2	+	3	780	c.780G>T	c.(778-780)aaG>aaT	p.K260N		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	260					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						CTATGGTCAAGAATTTTGTGG	0.498																																						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.(778-780)aaG>aaT		apolipoprotein L, 5							149	157	154					22																	36122895		2203	4300	6503	SO:0001583	missense	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36122895G>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.780G>T	22.37:g.36122895G>T	ENSP00000249044:p.Lys260Asn		Somatic					p.K260N	NM_030642.1	NP_085145.1	WXS	Illumina GAIIx	Phase_I	Q9BWW9	APOL5_HUMAN			3	780	+			260					Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	c.780G>T	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	7.424	0.637284	0.14386	.	.	ENSG00000128313	ENST00000249044	T	0.03580	3.88	3.71	-0.264	0.12950	.	0.320112	0.22703	N	0.056671	T	0.02156	0.0067	N	0.21240	0.645	0.09310	N	1	B	0.28291	0.206	B	0.24541	0.054	T	0.42982	-0.9419	10	0.40728	T	0.16	.	3.3135	0.07025	0.3164:0.0:0.4678:0.2158	.	260	Q9BWW9	APOL5_HUMAN	N	260	ENSP00000249044:K260N	ENSP00000249044:K260N	K	+	3	2	APOL5	34452841	0.000000	0.05858	0.005000	0.12908	0.028000	0.11728	-0.507000	0.06352	0.081000	0.16988	0.609000	0.83330	AAG		0.498	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		10	166	1	0	0.000442599	1	0.00046913	10	166					T	36122895	G	T	36122895	3	4	48	1	0	0	0	0	1	0	0	0	809	933	33	2	790	2	APOL5	22	36122895	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	306982	36122895	15181671	4351	8819										
MYH9	4627	broad.mit.edu	37	chr22	36685180	36685180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taaggtcctccatctccgtgCggaactgcttgttgagccgc	11	13	1	1	rs549408311		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:36685180C>T	ENST00000216181.5	-	32	4738	c.4508G>A	c.(4507-4509)cGc>cAc	p.R1503H		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1503					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						CATCTCCGTGCGGAACTGCTT	0.637			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				c|||	1	0.000199681	0	0	5008	,	,		19132	0		0	False		,,,				2504	0.001					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.(4507-4509)cGc>cAc		myosin, heavy chain 9, non-muscle							103	77	86					22																	36685180		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.chr22:36685180C>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.4508G>A	22.37:g.36685180C>T	ENSP00000216181:p.Arg1503His		Somatic					p.R1503H	NM_002473.4	NP_002464.1	WXS	Illumina GAIIx	Phase_I	P35579	MYH9_HUMAN			32	4738	-			1503					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.4508G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	c	27.6	4.849169	0.91277	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.78003	-1.14	5.2	5.2	0.72013	Myosin tail (1);	0.179769	0.49305	D	0.000160	D	0.86293	0.5898	L	0.61387	1.9	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	D	0.87483	0.2422	10	0.87932	D	0	.	19.1126	0.93323	0.0:1.0:0.0:0.0	.	1503	P35579	MYH9_HUMAN	H	925;105;1503	ENSP00000216181:R1503H	ENSP00000216181:R1503H	R	-	2	0	MYH9	35015126	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.876000	0.63079	2.586000	0.87340	0.556000	0.70494	CGC		0.637	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		18	41	0	0	0	1	0	18	41					T	36685180	C	T	36685180	3	4	48	1	0	0	0	0	1	0	0	0	10051	768	27	1	1414	1	MYH9	22	36685180	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	562285	36685180	14619386	4352	8820										
C22orf33	339669	broad.mit.edu	37	chr22	37397962	37397962	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgatgctgcccttctggttCgtgggcgtgctcctctggtc	13	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:37397962C>T	ENST00000405091.2	-	4	656	c.405G>A	c.(403-405)acG>acA	p.T135T	TEX33_ENST00000402860.3_Silent_p.T50T|TEX33_ENST00000381821.1_Silent_p.T135T			O43247	TEX33_HUMAN	testis expressed 33	135																	CCTTCTGGTTCGTGGGCGTGC	0.622																																						ENST00000405091.2																			0											c.(403-405)acG>acA		testis expressed 33							128	80	96					22																	37397962		2203	4300	6503	SO:0001819	synonymous_variant	339669							g.chr22:37397962C>T	BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 33"	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.405G>A	22.37:g.37397962C>T			Somatic				TEX33_ENST00000381821.1_Silent_p.T135T|TEX33_ENST00000402860.3_Silent_p.T50T	p.T135T			WXS	Illumina GAIIx	Phase_I	O43247	EAN57_HUMAN			4	656	-			135					B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Silent	SNP	ENST00000405091.2	37	c.405G>A	CCDS54524.1																																																																																				0.622	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552		13	12	0	0	0	1	0	13	12					T	37397962	C	T	37397962	2	4	48	1	0	0	0	0	0	0	0	1	2147	871	31	1		1	C22orf33	22	37397962	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	712782	37397962	13906604	4353	8821										
SH3BP1	23616	broad.mit.edu	37	chr22	38039669	38039669	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggctcagtcaggcaaccaaGaattcaggcagcagtcaagg	12	10	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:38039669G>T	ENST00000357436.4	+	7	805	c.492G>T	c.(490-492)aaG>aaT	p.K164N	SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_Missense_Mutation_p.K164N|SH3BP1_ENST00000336738.5_Missense_Mutation_p.K164N|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Missense_Mutation_p.K100N	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	164	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					AGGCAACCAAGAATTCAGGCA	0.587											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000599616.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(298-300)aaG>aaT		SH3-domain binding protein 1							141	105	117					22																	38039669		2203	4300	6503	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38039669G>T		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.492G>T	22.37:g.38039669G>T	ENSP00000350018:p.Lys164Asn		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.K164N|SH3BP1_ENST00000357436.4_Missense_Mutation_p.K164N|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_Missense_Mutation_p.K164N	p.K100N			WXS	Illumina GAIIx	Phase_I	Q9Y3L3	3BP1_HUMAN			5	300	+	Melanoma(58;0.0574)		164			BAR.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	c.300G>T	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957584	0.73902	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.69806	-0.43;-0.43;-0.43	5.2	4.16	0.48862	BAR (2);	0.269330	0.31246	N	0.007993	T	0.77883	0.4197	M	0.63843	1.955	0.43321	D	0.995347	D;D;D;D;D	0.76494	0.995;0.999;0.999;0.999;0.999	D;D;D;D;D	0.72338	0.975;0.966;0.977;0.966;0.966	T	0.78732	-0.2089	10	0.54805	T	0.06	.	13.8882	0.63721	0.0784:0.0:0.9216:0.0	.	164;78;100;164;78	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	N	164;164;164;78	ENSP00000350018:K164N;ENSP00000337213:K164N;ENSP00000395126:K164N	ENSP00000337213:K164N	K	+	3	2	SH3BP1	36369615	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.187000	0.50950	2.606000	0.88127	0.561000	0.74099	AAG		0.587	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		9	51	1	0	3.86212e-05	1	4.21111e-05	9	51					T	38039669	G	T	38039669	3	4	48	1	0	0	0	0	1	0	0	0	14259	933	33	2	518	2	SH3BP1	22	38039669	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	641707	38039669	13264897	4354	8822										
MICALL1	85377	broad.mit.edu	37	chr22	38329085	38329085	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagcagcgccaggctgatgtCgagtatgagctccggtgcct	15	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:38329085C>T	ENST00000215957.6	+	13	2400	c.2274C>T	c.(2272-2274)gtC>gtT	p.V758V	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	758	Necessary and sufficient to associate with tubular recycling endosome membranes, mediate phosphatidic acid- binding and membrane tubulation.|RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.V758V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGGCTGATGTCGAGTATGAGC	0.632																																						ENST00000215957.6																			1	Substitution - coding silent(1)	p.V758V(1)	urinary_tract(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24						c.(2272-2274)gtC>gtT		MICAL-like 1							63	64	64					22																	38329085		2203	4300	6503	SO:0001819	synonymous_variant	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38329085C>T	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"molecule interacting with Rab13"					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2274C>T	22.37:g.38329085C>T			Somatic				MICALL1_ENST00000402631.1_3'UTR	p.V758V	NM_033386.3	NP_203744.1	WXS	Illumina GAIIx	Phase_I	Q8N3F8	MILK1_HUMAN			13	2400	+	Melanoma(58;0.045)		758					Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	c.2274C>T	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548137	0.27652	.	.	ENSG00000100139	ENST00000454685	.	.	.	5.54	2.25	0.28309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3725	0.55261	0.0682:0.15:0.7819:0.0	.	.	.	.	X	334	.	.	R	+	1	2	MICALL1	36659031	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	0.762000	0.26503	0.280000	0.22209	-0.179000	0.13096	CGA		0.632	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		37	58	0	0	0	1	0	37	58					T	38329085	C	T	38329085	2	4	48	1	0	0	0	0	0	0	0	1	9582	871	31	1		1	MICALL1	22	38329085	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	289416	38329085	12975481	4355	8823										
CBX6	23466	broad.mit.edu	37	chr22	39262755	39262755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgggcggaggcttgtacagcGcaaaggcgccgaacttcatg	15	11	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:39262755G>A	ENST00000407418.3	-	5	821	c.698C>T	c.(697-699)gCg>gTg	p.A233V	CBX6_ENST00000216083.6_Missense_Mutation_p.A215V			O95503	CBX6_HUMAN	chromobox homolog 6	233					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CTTGTACAGCGCAAAGGCGCC	0.682																																						ENST00000407418.3																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(697-699)gCg>gTg		chromobox homolog 6							39	37	38					22																	39262755		2203	4299	6502	SO:0001583	missense	23466				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex		g.chr22:39262755G>A		CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.698C>T	22.37:g.39262755G>A	ENSP00000384490:p.Ala233Val		Somatic				CBX6_ENST00000216083.6_Missense_Mutation_p.A215V	p.A233V			WXS	Illumina GAIIx	Phase_I	O95503	CBX6_HUMAN			5	821	-	Melanoma(58;0.04)		233					A8KAH0|Q96EM5	Missense_Mutation	SNP	ENST00000407418.3	37	c.698C>T	CCDS13980.1	.	.	.	.	.	.	.	.	.	.	G	8.744	0.919642	0.17982	.	.	ENSG00000183741	ENST00000407418;ENST00000216083	.	.	.	4.69	4.69	0.59074	.	12.709800	0.00735	U	0.000963	T	0.42988	0.1227	N	0.19112	0.55	0.09310	N	0.999997	B	0.20261	0.043	B	0.12156	0.007	T	0.42361	-0.9456	9	0.30078	T	0.28	.	17.6193	0.88076	0.0:0.0:1.0:0.0	.	233	O95503	CBX6_HUMAN	V	233;215	.	ENSP00000216083:A215V	A	-	2	0	CBX6	37592701	1.000000	0.71417	0.880000	0.34516	0.930000	0.56654	8.351000	0.90072	2.158000	0.67659	0.407000	0.27541	GCG		0.682	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292		29	58	0	0	0	1	0	29	58					A	39262755	G	A	39262755	3	1	48	1	0	0	0	0	1	0	0	0	2724	1087	38	1	544	1	CBX6	22	39262755	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	933670	39262755	12041811	4356	8824										
APOBEC3F	200316	broad.mit.edu	37	chr22	39441500	39441500	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcatgccttggtacaaattCgatgacaattatgcattcct	6	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:39441500C>T	ENST00000308521.5	+	4	876	c.519C>T	c.(517-519)ttC>ttT	p.F173F	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	173					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)					GGTACAAATTCGATGACAATT	0.507																																						ENST00000308521.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16						c.(517-519)ttC>ttT		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F							366	300	322					22																	39441500		2203	4300	6503	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.chr22:39441500C>T	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.519C>T	22.37:g.39441500C>T			Somatic				APOBEC3G_ENST00000452957.2_Intron	p.F173F	NM_145298.5	NP_660341.2	WXS	Illumina GAIIx	Phase_I	Q9HC16	ABC3G_HUMAN			4	876	+	Melanoma(58;0.04)		178					B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Silent	SNP	ENST00000308521.5	37	c.519C>T	CCDS33648.1																																																																																				0.507	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		85	164	0	0	0	1	0	85	164					T	39441500	C	T	39441500	2	4	48	1	0	0	0	0	0	0	0	1	793	883	31	1		1	APOBEC3F	22	39441500	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	178745	39441500	11863066	4357	8825										
CACNA1I	8911	broad.mit.edu	37	chr22	40015325	40015325	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctctgcaggatggtcgagTactccctggaccttcagaac	10	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:40015325T>C	ENST00000402142.3	+	4	493	c.493T>C	c.(493-495)Tac>Cac	p.Y165H	CACNA1I_ENST00000401624.1_Missense_Mutation_p.Y165H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.Y165H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.Y165H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.Y165H|CACNA1I_ENST00000336649.4_Missense_Mutation_p.Y165H	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	165					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GATGGTCGAGTACTCCCTGGA	0.642																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(493-495)Tac>Cac		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						102	102	102					22																	40015325		2172	4271	6443	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40015325T>C	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.493T>C	22.37:g.40015325T>C	ENSP00000385019:p.Tyr165His		Somatic				CACNA1I_ENST00000401624.1_Missense_Mutation_p.Y165H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.Y165H|CACNA1I_ENST00000402142.3_Missense_Mutation_p.Y165H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.Y165H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.Y165H	p.Y165H			WXS	Illumina GAIIx	Phase_I	Q9P0X4	CAC1I_HUMAN			6	493	+	Melanoma(58;0.0749)		165					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.493T>C	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	-	23.5	4.425606	0.83667	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	5.06	5.06	0.68205	Ion transport (1);	0.000000	0.64402	D	0.000012	D	0.99184	0.9717	H	0.94542	3.55	0.44454	D	0.997386	D;D;D;D	0.89917	0.998;0.998;0.998;1.0	D;D;D;D	0.91635	0.99;0.989;0.99;0.999	D	0.99201	1.0873	10	0.59425	D	0.04	.	13.7911	0.63140	0.0:0.0:0.0:1.0	.	165;165;165;165	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	H	165	ENSP00000385019:Y165H;ENSP00000384093:Y165H;ENSP00000383887:Y165H;ENSP00000385680:Y165H;ENSP00000337829:Y165H;ENSP00000383028:Y165H	ENSP00000337829:Y165H	Y	+	1	0	CACNA1I	38345271	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.604000	0.67626	1.912000	0.55364	0.454000	0.30748	TAC		0.642	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		7	114	0	0	0	1	0	7	114					C	40015325	T	C	40015325	3	2	48	1	0	0	0	0	1	0	0	0	2548	1638	57	4	507	4	CACNA1I	22	40015325	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	573825	40015325	11289241	4358	8826										
ST13	6767	broad.mit.edu	37	chr22	41222622	41222622	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctctggtattttgacatatTtgctgggttctgagccacat	10	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:41222622T>C	ENST00000216218.3	-	12	1511	c.1030A>G	c.(1030-1032)Aat>Gat	p.N344D		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	344	STI1.				chaperone cofactor-dependent protein refolding (GO:0070389)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	dATP binding (GO:0032564)|protein binding, bridging (GO:0030674)			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TTTGACATATTTGCTGGGTTC	0.393																																						ENST00000216218.3																			0				cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(1030-1032)Aat>Gat		suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)							95	99	98					22																	41222622		2202	4296	6498	SO:0001583	missense	6767						protein binding, bridging	g.chr22:41222622T>C		CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380		"Tetratricopeptide (TTC) repeat domain containing"	11343	protein-coding gene	gene with protein product	"progesterone receptor-associated p48 protein"	606796	"suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)"			9925927, 8721986	Standard	NM_003932		Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.1030A>G	22.37:g.41222622T>C	ENSP00000216218:p.Asn344Asp		Somatic					p.N344D	NM_003932.3	NP_003923.2	WXS	Illumina GAIIx	Phase_I	P50502	F10A1_HUMAN			12	1511	-			344			STI1.		O14999|Q2TU77	Missense_Mutation	SNP	ENST00000216218.3	37	c.1030A>G	CCDS14006.1	.	.	.	.	.	.	.	.	.	.	T	33	5.219254	0.95139	.	.	ENSG00000100380	ENST00000216218	T	0.56444	0.46	5.76	5.76	0.90799	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.77191	0.4094	M	0.90198	3.095	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70935	0.971;0.971	T	0.80966	-0.1146	10	0.49607	T	0.09	.	16.0723	0.80943	0.0:0.0:0.0:1.0	.	334;344	B4E0U6;P50502	.;F10A1_HUMAN	D	344	ENSP00000216218:N344D	ENSP00000216218:N344D	N	-	1	0	ST13	39552568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.199000	0.77831	2.199000	0.70637	0.528000	0.53228	AAT		0.393	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321759.1	NM_003932		40	61	0	0	0	1	0	40	61					C	41222622	T	C	41222622	3	2	48	1	0	0	0	0	1	0	0	0	15225	1841	64	4	83	4	ST13	22	41222622	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1207297	41222622	10081944	4359	8827										
XPNPEP3	63929	broad.mit.edu	37	chr22	41318387	41318387	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccgttctagagatccaaaGagattgtttggccctctgct	10	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:41318387G>T	ENST00000357137.4	+	8	1190	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.R346I	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	369					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						GAGATCCAAAGAGATTGTTTG	0.473																																					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.(1105-1107)aGa>aTa		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							180	173	175					22																	41318387		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41318387G>T		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.1106G>T	22.37:g.41318387G>T	ENSP00000349658:p.Arg369Ile		Somatic				XPNPEP3_ENST00000544094.1_Missense_Mutation_p.R346I	p.R369I	NM_022098.3	NP_071381.1	WXS	Illumina GAIIx	Phase_I	Q9NQH7	XPP3_HUMAN			8	1190	+			369					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.1106G>T	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681639	0.47991	.	.	ENSG00000196236	ENST00000357137;ENST00000544094	T;T	0.76968	-1.06;-1.06	5.85	-2.22	0.06952	Peptidase M24, structural domain (3);	0.606572	0.18502	N	0.139307	T	0.68192	0.2974	L	0.43554	1.36	0.42529	D	0.993038	B	0.25169	0.119	B	0.30782	0.12	T	0.60541	-0.7243	10	0.54805	T	0.06	.	10.9502	0.47325	0.7633:0.0:0.2367:0.0	.	369	Q9NQH7	XPP3_HUMAN	I	369;346	ENSP00000349658:R369I;ENSP00000441942:R346I	ENSP00000349658:R369I	R	+	2	0	XPNPEP3	39648333	0.748000	0.28294	0.085000	0.20634	0.686000	0.39977	0.040000	0.13905	-0.140000	0.11394	-0.140000	0.14226	AGA		0.473	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		5	195	1	0	0.000602214	1	0.000636035	5	195					T	41318387	G	T	41318387	3	4	48	1	0	0	0	0	1	0	0	0	17459	942	33	2	1136	2	XPNPEP3	22	41318387	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	95765	41318387	9986179	4360	8828										
MEI1	150365	broad.mit.edu	37	chr22	42141899	42141899	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatttcttaggttggctataGaattccagagtgagccttca	10	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:42141899G>T	ENST00000401548.3	+	14	1589	c.1549G>T	c.(1549-1551)Gaa>Taa	p.E517*	MEI1_ENST00000300398.4_5'UTR|Y_RNA_ENST00000384086.1_RNA|MEI1_ENST00000540833.1_Nonsense_Mutation_p.E257*|MEI1_ENST00000400107.1_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTTGGCTATAGAATTCCAGAG	0.502																																						ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1549-1551)Gaa>Taa		meiosis inhibitor 1							67	67	67					22																	42141899		1911	4142	6053	SO:0001587	stop_gained	150365						binding	g.chr22:42141899G>T	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1549G>T	22.37:g.42141899G>T	ENSP00000384115:p.Glu517*		Somatic				MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Nonsense_Mutation_p.E257*|MEI1_ENST00000400107.1_5'UTR	p.E517*	NM_152513.3	NP_689726.3	WXS	Illumina GAIIx	Phase_I	Q5TIA1	MEI1_HUMAN			14	1589	+			517						Nonsense_Mutation	SNP	ENST00000401548.3	37	c.1549G>T	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	G	37	6.436302	0.97564	.	.	ENSG00000167077	ENST00000401548;ENST00000540833	.	.	.	5.43	5.43	0.79202	.	0.133814	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-6.5029	18.0141	0.89233	0.0:0.0:1.0:0.0	.	.	.	.	X	517;257	.	ENSP00000384115:E517X	E	+	1	0	MEI1	40471845	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.203000	0.72137	2.532000	0.85374	0.655000	0.94253	GAA		0.502	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		10	43	1	0	0.000442599	1	0.00046913	10	43					T	42141899	G	T	42141899	4	4	48	1	0	0	0	0	0	1	0	0	9474	943	33	2	1603	2	MEI1	22	42141899	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	823512	42141899	9162667	4361	8829										
SREBF2	6721	broad.mit.edu	37	chr22	42273340	42273340	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctcctttaaccccctgacTtccctgctgcagtggggagg	10	15	1	1	rs142090611	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:42273340T>G	ENST00000361204.4	+	8	1660	c.1494T>G	c.(1492-1494)acT>acG	p.T498T		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	498					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)			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						ACCCCCTGACTTCCCTGCTGC	0.617																																						ENST00000361204.4																			0				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.(1492-1494)acT>acG		sterol regulatory element binding transcription factor 2							108	105	106					22																	42273340		2203	4300	6503	SO:0001819	synonymous_variant	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42273340T>G	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.1494T>G	22.37:g.42273340T>G			Somatic					p.T498T	NM_004599.2	NP_004590.2	WXS	Illumina GAIIx	Phase_I	Q12772	SRBP2_HUMAN			8	1660	+			498					Q05BD5|Q6GTH7|Q86V36|Q9UH04	Silent	SNP	ENST00000361204.4	37	c.1494T>G	CCDS14023.1																																																																																				0.617	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		8	91	0	0	0	1	0	8	91					G	42273340	T	G	42273340	2	3	48	1	0	0	0	0	0	0	0	1	15157	1596	56	4		4	SREBF2	22	42273340	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	131441	42273340	9031226	4362	8830										
SEPT3	55964	broad.mit.edu	37	chr22	42377819	42377819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaccatgaagaccggtttcGacttcaacatcatggtcgtt	9	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:42377819G>A	ENST00000396426.3	+	2	436	c.181G>A	c.(181-183)Gac>Aac	p.D61N	SEPT3_ENST00000406029.1_Intron|SEPT3_ENST00000291236.11_Intron|SEPT3_ENST00000396425.3_Missense_Mutation_p.D61N|SEPT3_ENST00000328414.8_Missense_Mutation_p.D61N|CTA-250D10.19_ENST00000424613.1_RNA	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	61	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						GACCGGTTTCGACTTCAACAT	0.567																																						ENST00000396425.3																			0				breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(181-183)Gac>Aac		septin 3							117	93	101					22																	42377819		2203	4300	6503	SO:0001583	missense	55964				cell cycle|cytokinesis	cell junction|septin complex	GTP binding	g.chr22:42377819G>A	AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"Septins"	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.181G>A	22.37:g.42377819G>A	ENSP00000379704:p.Asp61Asn		Somatic				SEPT3_ENST00000396426.3_Missense_Mutation_p.D61N|SEPT3_ENST00000291236.11_Intron|SEPT3_ENST00000328414.8_Missense_Mutation_p.D61N|SEPT3_ENST00000406029.1_Intron|CTA-250D10.19_ENST00000424613.1_RNA	p.D61N	NM_019106.5	NP_061979.3	WXS	Illumina GAIIx	Phase_I	Q9UH03	SEPT3_HUMAN			2	312	+			61					B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	ENST00000396426.3	37	c.181G>A	CCDS14026.2	.	.	.	.	.	.	.	.	.	.	G	33	5.274881	0.95459	.	.	ENSG00000100167	ENST00000449288;ENST00000396426;ENST00000328414;ENST00000396425	T;T;T	0.52754	0.65;0.65;0.65	5.6	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.27900	0.0687	N	0.04373	-0.215	0.80722	D	1	B;B	0.21452	0.045;0.056	B;B	0.16722	0.009;0.016	T	0.06991	-1.0796	10	0.42905	T	0.14	.	15.0332	0.71723	0.0687:0.0:0.9313:0.0	.	61;61	Q9UH03-2;Q9UH03	.;SEPT3_HUMAN	N	48;61;61;61	ENSP00000391416:D48N;ENSP00000379704:D61N;ENSP00000379703:D61N	ENSP00000332866:D61N	D	+	1	0	SEPT3	40707765	1.000000	0.71417	0.969000	0.41365	0.834000	0.47266	9.869000	0.99810	1.515000	0.48885	0.557000	0.71058	GAC		0.567	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734		16	20	0	0	0	1	0	16	20					A	42377819	G	A	42377819	3	1	48	1	0	0	0	0	1	0	0	0	14080	1058	37	1	187	1	SEPT3	22	42377819	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	104479	42377819	8926747	4363	8831										
WBP2NL	164684	broad.mit.edu	37	chr22	42415733	42415733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatgatgccatttgatctgaTgacgaacctcactgttgaac	8	9	2	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:42415733T>C	ENST00000328823.9	+	3	270	c.239T>C	c.(238-240)aTg>aCg	p.M80T	WBP2NL_ENST00000543212.1_Missense_Mutation_p.M6T	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	80	GRAM.				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						TTTGATCTGATGACGAACCTC	0.408																																						ENST00000328823.9																			0				breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						c.(238-240)aTg>aCg		WBP2 N-terminal like							255	234	241					22																	42415733		2203	4300	6503	SO:0001583	missense	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42415733T>C	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.239T>C	22.37:g.42415733T>C	ENSP00000332983:p.Met80Thr		Somatic				WBP2NL_ENST00000543212.1_Missense_Mutation_p.M6T	p.M80T	NM_152613.2	NP_689826.2	WXS	Illumina GAIIx	Phase_I	Q6ICG8	WBP2L_HUMAN			3	270	+			80			GRAM.		A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	ENST00000328823.9	37	c.239T>C	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.438023	0.43326	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	D;T	0.88277	-2.36;1.23	4.86	4.86	0.63082	GRAM (1);	0.229512	0.30920	N	0.008603	D	0.92227	0.7535	M	0.86028	2.79	0.43852	D	0.996441	P	0.47841	0.901	P	0.49999	0.628	D	0.93466	0.6815	10	0.87932	D	0	-4.8127	13.5818	0.61907	0.0:0.0:0.0:1.0	.	80	Q6ICG8	WBP2L_HUMAN	T	80;6	ENSP00000332983:M80T;ENSP00000442447:M6T	ENSP00000332983:M80T	M	+	2	0	WBP2NL	40745679	1.000000	0.71417	0.908000	0.35775	0.342000	0.28953	5.970000	0.70431	2.048000	0.60808	0.533000	0.62120	ATG		0.408	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		7	119	0	0	0	1	0	7	119					C	42415733	T	C	42415733	3	2	48	1	0	0	0	0	1	0	0	0	17275	1464	51	4	249	4	WBP2NL	22	42415733	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	37914	42415733	8888833	4364	8832										
SCUBE1	80274	broad.mit.edu	37	chr22	43608571	43608571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcagggcttgaagccatcgGccgagaagaagcctggagaa	16	9	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:43608571G>A	ENST00000360835.4	-	17	2207	c.2081C>T	c.(2080-2082)gCc>gTc	p.A694V	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	694					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GAAGCCATCGGCCGAGAAGAA	0.677																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2080-2082)gCc>gTc		signal peptide, CUB domain, EGF-like 1							36	37	36					22																	43608571		2184	4264	6448	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43608571G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2081C>T	22.37:g.43608571G>A	ENSP00000354080:p.Ala694Val		Somatic					p.A694V	NM_173050.3	NP_766638.2	WXS	Illumina GAIIx	Phase_I	Q8IWY4	SCUB1_HUMAN			17	2207	-		all_neural(38;0.0414)|Ovarian(80;0.07)	694					Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.2081C>T	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	G	0.662	-0.805298	0.02819	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	T	0.15603	2.41	4.3	-0.416	0.12351	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	1.237780	0.05298	N	0.522439	T	0.12178	0.0296	L	0.37697	1.125	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.35425	-0.9789	10	0.17369	T	0.5	.	4.2156	0.10533	0.2223:0.0:0.5033:0.2744	.	694	Q8IWY4	SCUB1_HUMAN	V	694;324	ENSP00000354080:A694V	ENSP00000354080:A694V	A	-	2	0	SCUBE1	41938515	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	0.528000	0.23002	-0.053000	0.13289	-0.793000	0.03317	GCC		0.677	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		4	12	0	0	0	1	0	4	12					A	43608571	G	A	43608571	3	1	48	1	0	0	0	0	1	0	0	0	13959	1203	42	3	909	3	SCUBE1	22	43608571	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1192838	43608571	7695995	4365	8833										
PPARA	5465	broad.mit.edu	37	chr22	46627934	46627934	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttatgaggccatattcgcCatgctgtcttctgtgatgaa	10	8	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:46627934C>T	ENST00000396000.2	+	7	1222	c.957C>T	c.(955-957)gcC>gcT	p.A319A	PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000407236.1_Silent_p.A319A|PPARA_ENST00000262735.5_Silent_p.A319A|PPARA_ENST00000402126.1_Silent_p.A319A			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	319	Ligand-binding.|Required for heterodimerization with RXRA.				behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	CCATATTCGCCATGCTGTCTT	0.463																																						ENST00000396000.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(955-957)gcC>gcT		peroxisome proliferator-activated receptor alpha	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						151	136	141					22																	46627934		2203	4300	6503	SO:0001819	synonymous_variant	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46627934C>T	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"Nuclear hormone receptors"	9232	protein-coding gene	gene with protein product		170998	"peroxisome proliferative activated receptor, alpha"	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.957C>T	22.37:g.46627934C>T			Somatic				PPARA_ENST00000407236.1_Silent_p.A319A|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000402126.1_Silent_p.A319A|PPARA_ENST00000262735.5_Silent_p.A319A	p.A319A			WXS	Illumina GAIIx	Phase_I	Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	7	1222	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	319			Ligand-binding.|Required for heterodimerization with RXRA.		B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Silent	SNP	ENST00000396000.2	37	c.957C>T	CCDS33669.1																																																																																				0.463	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		33	36	0	0	0	1	0	33	36					T	46627934	C	T	46627934	2	4	48	1	0	0	0	0	0	0	0	1	12306	581	21	3		3	PPARA	22	46627934	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3019363	46627934	4676632	4366	8834										
TBC1D22A	25771	broad.mit.edu	37	chr22	47287219	47287219	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctccagagaaaacaaaaaGaatattttgcatttattgag	6	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:47287219G>T	ENST00000337137.4	+	6	932	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	TBC1D22A_ENST00000406733.1_Nonsense_Mutation_p.E209*|TBC1D22A_ENST00000407381.3_Nonsense_Mutation_p.E197*|TBC1D22A_ENST00000380995.1_Nonsense_Mutation_p.E209*|TBC1D22A_ENST00000355704.3_Nonsense_Mutation_p.E178*	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	256	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			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)		AAAACAAAAAGAATATTTTGC	0.398																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(766-768)Gaa>Taa		TBC1 domain family, member 22A							88	91	90					22																	47287219		2203	4300	6503	SO:0001587	stop_gained	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47287219G>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.766G>T	22.37:g.47287219G>T	ENSP00000336724:p.Glu256*		Somatic				TBC1D22A_ENST00000380995.1_Nonsense_Mutation_p.E209*|TBC1D22A_ENST00000406733.1_Nonsense_Mutation_p.E209*|TBC1D22A_ENST00000355704.3_Nonsense_Mutation_p.E178*|TBC1D22A_ENST00000407381.3_Nonsense_Mutation_p.E197*	p.E256*	NM_014346.2	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)	6	932	+		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)	256			Rab-GAP TBC.		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Nonsense_Mutation	SNP	ENST00000337137.4	37	c.766G>T	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	40	8.516893	0.98845	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.1203	0.72438	0.0:0.0:1.0:0.0	.	.	.	.	X	256;209;197;178;209	.	ENSP00000336724:E256X	E	+	1	0	TBC1D22A	45665883	1.000000	0.71417	0.713000	0.30519	0.987000	0.75469	8.227000	0.89787	2.415000	0.81967	0.557000	0.71058	GAA		0.398	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		14	26	1	0	4.7546e-09	1	5.67505e-09	14	26					T	47287219	G	T	47287219	4	4	48	1	0	0	0	0	0	1	0	0	15626	943	33	2	788	2	TBC1D22A	22	47287219	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	659285	47287219	4017347	4367	8835										
BRD1	23774	broad.mit.edu	37	chr22	50191483	50191483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagaaaggccgccgcggtgCcgcagcaggccgctcaggca	17	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:50191483C>T	ENST00000216267.8	-	5	2554	c.2068G>A	c.(2068-2070)Gca>Aca	p.A690T	BRD1_ENST00000542442.1_Missense_Mutation_p.A378T|BRD1_ENST00000457780.2_Missense_Mutation_p.A690T|BRD1_ENST00000342989.5_Missense_Mutation_p.A285T|BRD1_ENST00000404760.1_Missense_Mutation_p.A690T|BRD1_ENST00000404034.1_Missense_Mutation_p.A690T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	690					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)		CGCCGCGGTGCCGCAGCAGGC	0.647																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(2068-2070)Gca>Aca		bromodomain containing 1							23	25	24					22																	50191483		2203	4297	6500	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50191483C>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.2068G>A	22.37:g.50191483C>T	ENSP00000216267:p.Ala690Thr		Somatic				BRD1_ENST00000457780.2_Missense_Mutation_p.A690T|BRD1_ENST00000404760.1_Missense_Mutation_p.A690T|BRD1_ENST00000342989.5_Missense_Mutation_p.A285T|BRD1_ENST00000404034.1_Missense_Mutation_p.A690T|BRD1_ENST00000542442.1_Missense_Mutation_p.A378T	p.A690T	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)	5	2554	-		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)	690					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.2068G>A	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638622	0.29157	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.27720	2.58;2.58;2.58;2.4;1.65;2.02	5.44	5.44	0.79542	.	0.289595	0.37906	N	0.001883	T	0.26484	0.0647	L	0.34521	1.04	0.26572	N	0.973544	B;B;B;B	0.26002	0.009;0.139;0.031;0.016	B;B;B;B	0.21546	0.013;0.035;0.013;0.029	T	0.08126	-1.0737	10	0.21540	T	0.41	.	19.2518	0.93926	0.0:1.0:0.0:0.0	.	690;285;690;690	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	T	690;690;690;690;378;285;150	ENSP00000216267:A690T;ENSP00000384076:A690T;ENSP00000385858:A690T;ENSP00000410042:A690T;ENSP00000437514:A378T;ENSP00000345886:A285T	ENSP00000216267:A690T	A	-	1	0	BRD1	48577487	0.988000	0.35896	0.416000	0.26546	0.023000	0.10783	3.063000	0.49978	2.546000	0.85860	0.655000	0.94253	GCA		0.647	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		17	13	0	0	0	1	0	17	13					T	50191483	C	T	50191483	3	4	48	1	0	0	0	0	1	0	0	0	1503	739	26	3	1140	3	BRD1	22	50191483	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2904264	50191483	1113083	4368	8836										
TUBGCP6	85378	broad.mit.edu	37	chr22	50664759	50664759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcacctgaatcatgaactcGccataagcgtctctgaacac	6	13	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:50664759G>A	ENST00000248846.5	-	8	1754	c.1650C>T	c.(1648-1650)ggC>ggT	p.G550G	TUBGCP6_ENST00000491449.1_5'Flank|TUBGCP6_ENST00000439308.2_Silent_p.G550G			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	550					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)		TCATGAACTCGCCATAAGCGT	0.607																																						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.(1648-1650)ggC>ggT		tubulin, gamma complex associated protein 6							70	58	62					22																	50664759		2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50664759G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1650C>T	22.37:g.50664759G>A			Somatic				TUBGCP6_ENST00000248846.5_Silent_p.G550G	p.G550G	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)	8	2142	-		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)	550					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.1650C>T	CCDS14087.1																																																																																				0.607	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		14	12	0	0	0	1	0	14	12					A	50664759	G	A	50664759	2	1	48	1	0	0	0	0	0	0	0	1	16785	1074	38	1		1	TUBGCP6	22	50664759	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	473276	50664759	639807	4369	8837										
CPT1B	1375	broad.mit.edu	37	chr22	51008020	51008020	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcaccgtctctgagcttgaGaacttgctggagatgtggaa	12	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:51008020G>T	ENST00000360719.2	-	18	2357	c.2220C>A	c.(2218-2220)ttC>ttA	p.F740L	CPT1B_ENST00000440709.1_Missense_Mutation_p.F659L|CPT1B_ENST00000457250.1_Missense_Mutation_p.F706L|CPT1B_ENST00000434492.2_Missense_Mutation_p.F535L|CPT1B_ENST00000405237.3_Missense_Mutation_p.F740L|CPT1B_ENST00000395650.2_Missense_Mutation_p.F740L|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.F740L	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	740					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)		CTGAGCTTGAGAACTTGCTGG	0.562																																					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.(2218-2220)ttC>ttA		carnitine palmitoyltransferase 1B (muscle)							116	97	104					22																	51008020		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.chr22:51008020G>T	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.2220C>A	22.37:g.51008020G>T	ENSP00000353945:p.Phe740Leu		Somatic				CPT1B_ENST00000434492.2_Missense_Mutation_p.F535L|CPT1B_ENST00000440709.1_Missense_Mutation_p.F659L|CPT1B_ENST00000457250.1_Missense_Mutation_p.F706L|CPT1B_ENST00000312108.7_Missense_Mutation_p.F740L|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000395650.2_Missense_Mutation_p.F740L|CPT1B_ENST00000405237.3_Missense_Mutation_p.F740L	p.F740L	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)	18	2357	-		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)	740					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.2220C>A	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	G	9.665	1.145098	0.21288	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.2	3.09	0.35607	.	0.101299	0.64402	N	0.000002	D	0.84705	0.5531	M	0.70275	2.135	0.50813	D	0.999896	B;B;B;B	0.12630	0.004;0.001;0.003;0.006	B;B;B;B	0.15052	0.007;0.005;0.012;0.012	T	0.73867	-0.3847	10	0.11485	T	0.65	-19.3953	8.461	0.32927	0.0822:0.0:0.7652:0.1526	.	659;706;535;740	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	L	740;740;740;706;659;535;740	ENSP00000385486:F740L;ENSP00000312189:F740L;ENSP00000353945:F740L;ENSP00000409342:F706L;ENSP00000414713:F659L;ENSP00000410966:F535L;ENSP00000379011:F740L	ENSP00000312189:F740L	F	-	3	2	CPT1B	49354886	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.441000	0.44864	0.564000	0.29238	0.561000	0.74099	TTC		0.562	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		23	18	1	0	6.44725e-10	1	7.85205e-10	23	18					T	51008020	G	T	51008020	3	4	48	1	0	0	0	0	1	0	0	0	3834	933	33	2	106	2	CPT1B	22	51008020	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	343261	51008020	296546	4370	8838										
CSF2RA	1438	broad.mit.edu	37	chrX	1407680	1407680	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtaccgctgctcagaatttCtcctgtttcatctacaatgc	7	12	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1407680C>A	ENST00000381524.3	+	6	558	c.372C>A	c.(370-372)ttC>ttA	p.F124L	CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000361536.3_Missense_Mutation_p.F124L|CSF2RA_ENST00000381500.1_Missense_Mutation_p.F124L|CSF2RA_ENST00000381529.3_Missense_Mutation_p.F124L|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381509.3_Missense_Mutation_p.F124L|CSF2RA_ENST00000417535.2_Missense_Mutation_p.F124L|CSF2RA_ENST00000432318.2_Missense_Mutation_p.F124L|CSF2RA_ENST00000355805.2_Missense_Mutation_p.F124L|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000355432.3_Missense_Mutation_p.F124L			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	124					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTCAGAATTTCTCCTGTTTCA	0.488																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(370-372)ttC>ttA		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						184	194	190					X																	1407680		2203	4296	6499	SO:0001583	missense	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1407680C>A	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.372C>A	X.37:g.1407680C>A	ENSP00000370935:p.Phe124Leu		Somatic				CSF2RA_ENST00000417535.2_Missense_Mutation_p.F124L|CSF2RA_ENST00000381509.3_Missense_Mutation_p.F124L|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000355432.3_Missense_Mutation_p.F124L|CSF2RA_ENST00000381500.1_Missense_Mutation_p.F124L|CSF2RA_ENST00000381529.3_Missense_Mutation_p.F124L|CSF2RA_ENST00000432318.2_Missense_Mutation_p.F124L|CSF2RA_ENST00000355805.2_Missense_Mutation_p.F124L|CSF2RA_ENST00000361536.3_Missense_Mutation_p.F124L	p.F124L			WXS	Illumina GAIIx	Phase_I	P15509	CSF2R_HUMAN			6	558	+		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)	124					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.372C>A	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	8.273	0.813791	0.16537	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	T;T;T;T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	2.19	1.28	0.21552	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.45867	U	0.000325	T	0.64046	0.2563	.	.	.	0.09310	N	0.999998	D;D;D;D;D;D	0.76494	0.957;0.999;0.996;0.999;0.999;0.999	P;D;D;D;D;D	0.83275	0.682;0.986;0.977;0.996;0.976;0.981	T	0.60000	-0.7348	9	0.02654	T	1	.	3.8747	0.09051	0.0:0.7668:0.0:0.2332	.	124;124;124;124;124;124	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	L	124	ENSP00000370940:F124L;ENSP00000416437:F124L;ENSP00000354836:F124L;ENSP00000370935:F124L;ENSP00000410667:F124L;ENSP00000397452:F124L;ENSP00000370920:F124L;ENSP00000348058:F124L;ENSP00000347606:F124L;ENSP00000394227:F124L;ENSP00000370911:F124L	ENSP00000347606:F124L	F	+	3	2	CSF2RA	1367680	0.995000	0.38212	0.635000	0.29338	0.042000	0.13812	0.513000	0.22770	1.164000	0.42652	0.280000	0.19369	TTC		0.488	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			64	138	1	0	6.26901e-30	1	8.94914e-30	64	138					A	1407680	C	A	1407680	3	1	48	1	0	0	0	0	1	0	0	0	3936	912	32	2	386	2	CSF2RA	23	1407680	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08		1407680	153862880	4371	8839										
CSF2RA	1438	broad.mit.edu	37	chrX	1428454	1428454	+	3'UTR	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttgatgatgctgtgaaccTttatatcattttctatgttt	6	6	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1428454T>A	ENST00000381524.3	+	0	1471				CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000355432.3_Missense_Mutation_p.L369H			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCTGTGAACCTTTATATCATT	0.502																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000355432.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(1105-1107)cTt>cAt		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						201	186	191					X																	1428454		2203	4296	6499	SO:0001624	3_prime_UTR_variant	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1428454T>A	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.*82T>A	X.37:g.1428454T>A			Somatic				CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000381524.3_3'UTR|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR	p.L369H	NM_172246.2	NP_758449.1	WXS	Illumina GAIIx	Phase_I	P15509	CSF2R_HUMAN			11	1255	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	0					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.1106T>A	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	9.788	1.177160	0.21787	.	.	ENSG00000198223	ENST00000355432	T	0.50277	0.75	0.561	0.561	0.17285	.	.	.	.	.	T	0.43765	0.1262	.	.	.	0.09310	N	1	D	0.65815	0.995	P	0.46758	0.526	T	0.34279	-0.9835	7	0.87932	D	0	.	.	.	.	.	370	P15509-5	.	H	369	ENSP00000347606:L369H	ENSP00000347606:L369H	L	+	2	0	CSF2RA	1388454	0.002000	0.14202	0.005000	0.12908	0.078000	0.17371	0.063000	0.14410	0.482000	0.27582	0.093000	0.15507	CTT		0.502	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			17	114	0	0	0	1	0	17	114					A	1428454	T	A	1428454	1	1	48	0	1	0	0	0	0	0	0	0	3936	1609	56	4		4	CSF2RA	23	1428454	3'UTR	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	20774	1428454	153842106	4372	8840										
IL3RA	3563	broad.mit.edu	37	chrX	1460715	1460715	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgccctgtctcctgcaaacGaaggaaggtaagaactggag	12	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1460715G>A	ENST00000331035.4	+	2	406	c.57G>A	c.(55-57)acG>acA	p.T19T	IL3RA_ENST00000381469.2_Silent_p.T19T	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	19					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)	TCCTGCAAACGAAGGAAGGTA	0.587																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(55-57)acG>acA		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						190	163	172					X																	1460715		2203	4296	6499	SO:0001819	synonymous_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1460715G>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.57G>A	X.37:g.1460715G>A			Somatic				IL3RA_ENST00000381469.2_Silent_p.T19T	p.T19T	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	WXS	Illumina GAIIx	Phase_I	P26951	IL3RA_HUMAN			2	406	+		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)	19					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	ENST00000331035.4	37	c.57G>A	CCDS14113.1																																																																																				0.587	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			39	113	0	0	0	1	0	39	113					A	1460715	G	A	1460715	2	1	48	1	0	0	0	0	0	0	0	1	7704	1045	37	1		1	IL3RA	23	1460715	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	32261	1460715	153809845	4373	8841										
IL3RA	3563	broad.mit.edu	37	chrX	1467357	1467357	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctattgccagtttggagcaAtttccttatgtgaagtgacc	10	8	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1467357A>G	ENST00000331035.4	+	4	566	c.217A>G	c.(217-219)Att>Gtt	p.I73V	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)	73					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)	GTTTGGAGCAATTTCCTTATG	0.453																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(217-219)Att>Gtt		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						488	434	453					X																	1467357		2203	4296	6499	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1467357A>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.217A>G	X.37:g.1467357A>G	ENSP00000327890:p.Ile73Val		Somatic				IL3RA_ENST00000381469.2_Intron	p.I73V	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	WXS	Illumina GAIIx	Phase_I	P26951	IL3RA_HUMAN			4	566	+		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)	73					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.217A>G	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	0.802	-0.755217	0.03019	.	.	ENSG00000185291	ENST00000331035	T	0.30182	1.54	0.364	-0.728	0.11162	.	684.538000	0.01864	U	0.036830	T	0.15696	0.0378	N	0.14661	0.345	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.07693	-1.0759	9	0.11794	T	0.64	-2.2384	.	.	.	.	73	P26951	IL3RA_HUMAN	V	73	ENSP00000327890:I73V	ENSP00000327890:I73V	I	+	1	0	IL3RA	1427357	0.000000	0.05858	0.014000	0.15608	0.142000	0.21351	-1.305000	0.02738	-0.863000	0.04084	0.093000	0.15507	ATT		0.453	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			94	166	0	0	0	1	0	94	166					G	1467357	A	G	1467357	3	3	48	1	0	0	0	0	1	0	0	0	7704	101	4	4	227	4	IL3RA	23	1467357	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	6642	1467357	153803203	4374	8842										
SLC25A6	293	broad.mit.edu	37	chrX	1506218	1506218	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgcgccgccgcaccgtgtcGaaggggtaggacaccacgcc	14	15	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1506218G>A	ENST00000381401.5	-	3	1407	c.693C>T	c.(691-693)ttC>ttT	p.F231F	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	231					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GCACCGTGTCGAAGGGGTAGG	0.682																																						ENST00000381401.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(691-693)ttC>ttT		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)	A		1,4405		0,1,2202	103	95	98		693	-2.9	0.8	X	dbSNP_134	98	4,8586		0,4,4291	no	coding-synonymous	SLC25A6	NM_001636.3		0,5,6493	AA,AG,GG		0.0466,0.0227,0.0385		231/299	1506218	5,12991	2203	4295	6498	SO:0001819	synonymous_variant	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1506218G>A	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"Pseudoautosomal regions / PAR1", "Solute carriers"	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.693C>T	X.37:g.1506218G>A			Somatic				SLC25A6_ENST00000475167.1_5'UTR	p.F231F	NM_001636.3	NP_001627.2	WXS	Illumina GAIIx	Phase_I	P12236	ADT3_HUMAN			3	1407	-		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)	231					Q96C49	Silent	SNP	ENST00000381401.5	37	c.693C>T	CCDS14114.1																																																																																				0.682	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		28	76	0	0	0	1	0	28	76					A	1506218	G	A	1506218	2	1	48	1	0	0	0	0	0	0	0	1	14528	1049	37	1		1	SLC25A6	23	1506218	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	38861	1506218	153764342	4375	8843										
P2RY8	286530	broad.mit.edu	37	chrX	1584447	1584447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagggtgcgcaccggcctcGgagcgcacggacgtggtcct	16	14	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1584447G>A	ENST00000381297.4	-	2	1215	c.1005C>T	c.(1003-1005)tcC>tcT	p.S335S	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	335						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACCGGCCTCGGAGCGCACGG	0.701			T	CRLF2	"B-ALL, Downs associated ALL"																																	ENST00000381297.4				Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	T	"purinergic receptor P2Y, G-protein coupled, 8"			L	CRLF2		"B-ALL, Downs associated ALL"		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(1003-1005)tcC>tcT		purinergic receptor P2Y, G-protein coupled, 8							43	50	48					X																	1584447		2203	4295	6498	SO:0001819	synonymous_variant	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584447G>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.1005C>T	X.37:g.1584447G>A			Somatic					p.S335S	NM_178129.4	NP_835230.1	WXS	Illumina GAIIx	Phase_I	Q86VZ1	P2RY8_HUMAN			2	1215	-		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)	335						Silent	SNP	ENST00000381297.4	37	c.1005C>T	CCDS14115.1																																																																																				0.701	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		25	66	0	0	0	1	0	25	66					A	1584447	G	A	1584447	2	1	48	1	0	0	0	0	0	0	0	1	11364	1103	39	1		1	P2RY8	23	1584447	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	78229	1584447	153686113	4376	8844										
ARSD	414	broad.mit.edu	37	chrX	2835914	2835914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagaaccatgggttgctccGtgacgtcatggtttctcatc	10	12	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:2835914G>A	ENST00000381154.1	-	5	869	c.794C>T	c.(793-795)aCg>aTg	p.T265M	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	265					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)				GGGTTGCTCCGTGACGTCATG	0.493																																						ENST00000381154.1																			0				large_intestine(3)|lung(3)	6						c.(793-795)aCg>aTg		arylsulfatase D							49	45	46					X																	2835914		2203	4300	6503	SO:0001583	missense	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2835914G>A	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.794C>T	X.37:g.2835914G>A	ENSP00000370546:p.Thr265Met		Somatic				ARSD_ENST00000217890.6_5'UTR	p.T265M	NM_001669.3	NP_001660.2	WXS	Illumina GAIIx	Phase_I	P51689	ARSD_HUMAN			5	869	-		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)	265					Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	c.794C>T	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	g	13.78	2.339188	0.41398	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.93811	-3.29	3.36	2.48	0.30137	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.565715	0.18205	U	0.148367	D	0.96269	0.8783	M	0.87456	2.885	0.28216	N	0.926719	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.951	D	0.91107	0.4919	10	0.62326	D	0.03	.	9.926	0.41492	0.1084:0.0:0.8916:0.0	.	265;265	E9PAW5;P51689	.;ARSD_HUMAN	M	265	ENSP00000370546:T265M	ENSP00000217890:T265M	T	-	2	0	ARSD	2845914	0.927000	0.31430	0.041000	0.18516	0.762000	0.43233	3.584000	0.53936	0.335000	0.23614	0.281000	0.19383	ACG		0.493	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			19	29	0	0	0	1	0	19	29					A	2835914	G	A	2835914	3	1	48	1	0	0	0	0	1	0	0	0	989	1145	40	1	1164	1	ARSD	23	2835914	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1251467	2835914	152434646	4377	8845										
ARSE	415	broad.mit.edu	37	chrX	2861177	2861177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctagggaaccgccgtgatccGacgtaaaataaatgagggtg	13	8	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:2861177G>A	ENST00000381134.3	-	8	1121	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	ARSE_ENST00000540563.1_Missense_Mutation_p.S307L|ARSE_ENST00000545496.1_Missense_Mutation_p.S377L	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	352					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)				GCCGTGATCCGACGTAAAATA	0.473																																						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.(1129-1131)tCg>tTg		arylsulfatase E (chondrodysplasia punctata 1)							83	76	79					X																	2861177		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2861177G>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.1055C>T	X.37:g.2861177G>A	ENSP00000370526:p.Ser352Leu		Somatic				ARSE_ENST00000381134.3_Missense_Mutation_p.S352L|ARSE_ENST00000540563.1_Missense_Mutation_p.S307L	p.S377L			WXS	Illumina GAIIx	Phase_I	P51690	ARSE_HUMAN			9	1421	-		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)	352					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.1130C>T	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008822	0.75046	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.96619	-4.07;-4.07;-4.07	3.66	3.66	0.41972	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	H	0.99855	4.85	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.986;0.992	D	0.98419	1.0576	10	0.87932	D	0	.	14.0326	0.64624	0.0:0.0:1.0:0.0	.	307;377;352	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	L	307;377;352	ENSP00000438198:S307L;ENSP00000441417:S377L;ENSP00000370526:S352L	ENSP00000370526:S352L	S	-	2	0	ARSE	2871177	1.000000	0.71417	0.012000	0.15200	0.002000	0.02628	7.542000	0.82095	1.608000	0.50180	0.600000	0.82982	TCG		0.473	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		11	24	0	0	0	1	0	11	24					A	2861177	G	A	2861177	3	1	48	1	0	0	0	0	1	0	0	0	990	1059	37	1	730	1	ARSE	23	2861177	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	25263	2861177	152409383	4378	8846										
ARSH	347527	broad.mit.edu	37	chrX	2947303	2947303	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaagagtgattgacggccaGaacctaatgcccctgctgga	11	12	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:2947303G>A	ENST00000381130.2	+	8	1215	c.1215G>A	c.(1213-1215)caG>caA	p.Q405Q		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	405					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTGACGGCCAGAACCTAATGC	0.542																																						ENST00000381130.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(1213-1215)caG>caA		arylsulfatase family, member H							141	113	122					X																	2947303		2203	4300	6503	SO:0001819	synonymous_variant	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2947303G>A	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"Arylsulfatase family"	32488	protein-coding gene	gene with protein product		300586	"arylsulfatase H"			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1215G>A	X.37:g.2947303G>A			Somatic					p.Q405Q	NM_001011719.1	NP_001011719.1	WXS	Illumina GAIIx	Phase_I	Q5FYA8	ARSH_HUMAN			8	1215	+		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)	405						Silent	SNP	ENST00000381130.2	37	c.1215G>A	CCDS35198.1																																																																																				0.542	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		5	145	0	0	0	1	0	5	145					A	2947303	G	A	2947303	2	1	48	1	0	0	0	0	0	0	0	1	993	933	33	3		3	ARSH	23	2947303	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	86126	2947303	152323257	4379	8847										
MXRA5	25878	broad.mit.edu	37	chrX	3238669	3238669	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagttcttcggtcagtaaacTtactaggaatgctgggtttg	11	7	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:3238669T>G	ENST00000217939.6	-	5	5211	c.5057A>C	c.(5056-5058)aAg>aCg	p.K1686T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1686						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)				GTCAGTAAACTTACTAGGAAT	0.438																																						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.(5056-5058)aAg>aCg		matrix-remodelling associated 5							163	155	158					X																	3238669		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3238669T>G	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.5057A>C	X.37:g.3238669T>G	ENSP00000217939:p.Lys1686Thr		Somatic					p.K1686T	NM_015419.3	NP_056234.2	WXS	Illumina GAIIx	Phase_I	Q9NR99	MXRA5_HUMAN			5	5211	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1686					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.5057A>C	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	T	3.933	-0.015783	0.07681	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.63913	-0.07	3.2	-6.39	0.01951	.	1.464230	0.05024	N	0.473348	T	0.36276	0.0961	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.25047	-1.0143	10	0.22706	T	0.39	.	8.7447	0.34578	0.0:0.3738:0.4259:0.2004	.	1686	Q9NR99	MXRA5_HUMAN	T	1686	ENSP00000217939:K1686T	ENSP00000217939:K1686T	K	-	2	0	MXRA5	3248669	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.152000	0.10159	-1.952000	0.01027	0.352000	0.21897	AAG		0.438	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		82	141	0	0	0	1	0	82	141					G	3238669	T	G	3238669	3	3	48	1	0	0	0	0	1	0	0	0	10012	1609	56	4	3441	4	MXRA5	23	3238669	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	291366	3238669	152031891	4380	8848										
MXRA5	25878	broad.mit.edu	37	chrX	3240878	3240878	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgggctctggtgacgatcCaacatctgctgcagaccaac	11	12	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:3240878C>A	ENST00000217939.6	-	5	3002	c.2848G>T	c.(2848-2850)Gga>Tga	p.G950*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	950						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)				GGTGACGATCCAACATCTGCT	0.507																																						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.(2848-2850)Gga>Tga		matrix-remodelling associated 5							118	83	95					X																	3240878		2203	4300	6503	SO:0001587	stop_gained	25878					extracellular region		g.chrX:3240878C>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.2848G>T	X.37:g.3240878C>A	ENSP00000217939:p.Gly950*		Somatic					p.G950*	NM_015419.3	NP_056234.2	WXS	Illumina GAIIx	Phase_I	Q9NR99	MXRA5_HUMAN			5	3002	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	950					Q6P1M7|Q9Y3Y8	Nonsense_Mutation	SNP	ENST00000217939.6	37	c.2848G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	38	6.969534	0.97971	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	3.22	2.35	0.29111	.	0.454699	0.16011	U	0.233810	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	6.5823	0.22602	0.0:0.7611:0.0:0.2389	.	.	.	.	X	950	.	ENSP00000217939:G950X	G	-	1	0	MXRA5	3250878	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.393000	0.20817	0.376000	0.24707	0.529000	0.55759	GGA		0.507	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		35	52	1	0	7.65355e-07	1	8.68711e-07	35	52					A	3240878	C	A	3240878	4	1	48	1	0	0	0	0	0	1	0	0	10012	603	21	5	5650	5	MXRA5	23	3240878	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2209	3240878	152029682	4381	8849										
MXRA5	25878	broad.mit.edu	37	chrX	3242220	3242220	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggactctcagaagctttcacGttgcagctcaactggcatgg	11	11	3	1	rs151156772		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:3242220G>A	ENST00000217939.6	-	5	1660	c.1506C>T	c.(1504-1506)aaC>aaT	p.N502N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	502	Ig-like C2-type 1.					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)				AAGCTTTCACGTTGCAGCTCA	0.542																																						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.(1504-1506)aaC>aaT		matrix-remodelling associated 5		A		1,3834		0,1,1631,571	97	87	90		1506	-2.2	0.6	X	dbSNP_134	90	0,6728		0,0,2428,1872	no	coding-synonymous	MXRA5	NM_015419.3		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		502/2829	3242220	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3242220G>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.1506C>T	X.37:g.3242220G>A			Somatic					p.N502N	NM_015419.3	NP_056234.2	WXS	Illumina GAIIx	Phase_I	Q9NR99	MXRA5_HUMAN			5	1660	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	502			Ig-like C2-type 1.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.1506C>T	CCDS14124.1																																																																																				0.542	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		50	96	0	0	0	1	0	50	96					A	3242220	G	A	3242220	2	1	48	1	0	0	0	0	0	0	0	1	10012	1136	40	1		1	MXRA5	23	3242220	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1342	3242220	152028340	4382	8850										
NLGN4X	57502	broad.mit.edu	37	chrX	5811614	5811614	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atatgcagatagagctggtcTttgggattatacttggacca	11	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:5811614T>G	ENST00000381095.3	-	6	2322	c.1695A>C	c.(1693-1695)aaA>aaC	p.K565N	NLGN4X_ENST00000275857.6_Missense_Mutation_p.K565N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.K585N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.K565N|NLGN4X_ENST00000538097.1_Missense_Mutation_p.K565N	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	565					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGAGCTGGTCTTTGGGATTAT	0.468																																						ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(1693-1695)aaA>aaC		neuroligin 4, X-linked							117	113	114					X																	5811614		2203	4300	6503	SO:0001583	missense	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:5811614T>G	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.1695A>C	X.37:g.5811614T>G	ENSP00000370485:p.Lys565Asn		Somatic				NLGN4X_ENST00000381092.1_Missense_Mutation_p.K565N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.K585N|NLGN4X_ENST00000275857.6_Missense_Mutation_p.K565N|NLGN4X_ENST00000538097.1_Missense_Mutation_p.K565N	p.K565N	NM_181332.1	NP_851849.1	WXS	Illumina GAIIx	Phase_I	Q8N0W4	NLGNX_HUMAN			6	2322	-			565					Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.1695A>C	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	T	7.137	0.580971	0.13686	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	4.0	-1.43	0.08884	Carboxylesterase, type B (1);	0.298084	0.18591	N	0.136724	T	0.54095	0.1837	L	0.41236	1.265	0.44523	D	0.997475	B;P;B	0.40180	0.151;0.705;0.067	B;B;B	0.41412	0.063;0.356;0.022	T	0.41161	-0.9524	10	0.37606	T	0.19	.	8.9238	0.35628	0.0:0.4755:0.0:0.5245	.	622;565;585	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	N	565;585;565;565;565	ENSP00000370485:K565N;ENSP00000370483:K585N;ENSP00000275857:K565N;ENSP00000370482:K565N;ENSP00000439203:K565N	ENSP00000275857:K565N	K	-	3	2	NLGN4X	5821614	0.821000	0.29204	0.986000	0.45419	0.329000	0.28539	-0.224000	0.09164	-0.803000	0.04415	-0.438000	0.05819	AAA		0.468	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		38	91	0	0	0	1	0	38	91					G	5811614	T	G	5811614	3	3	48	1	0	0	0	0	1	0	0	0	10473	1606	56	4	759	4	NLGN4X	23	5811614	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2569394	5811614	149458946	4383	8851										
NLGN4X	57502	broad.mit.edu	37	chrX	5821807	5821807	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgtccagcatgttgcagccGaccttgtctgccaatatccg	10	13	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:5821807G>A	ENST00000381095.3	-	5	1539	c.912C>T	c.(910-912)gtC>gtT	p.V304V	NLGN4X_ENST00000275857.6_Silent_p.V304V|NLGN4X_ENST00000381093.2_Silent_p.V324V|NLGN4X_ENST00000381092.1_Silent_p.V304V|NLGN4X_ENST00000538097.1_Silent_p.V304V	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	304					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGTTGCAGCCGACCTTGTCTG	0.577																																						ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(910-912)gtC>gtT		neuroligin 4, X-linked							137	94	109					X																	5821807		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:5821807G>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.912C>T	X.37:g.5821807G>A			Somatic				NLGN4X_ENST00000381092.1_Silent_p.V304V|NLGN4X_ENST00000381093.2_Silent_p.V324V|NLGN4X_ENST00000275857.6_Silent_p.V304V|NLGN4X_ENST00000538097.1_Silent_p.V304V	p.V304V	NM_181332.1	NP_851849.1	WXS	Illumina GAIIx	Phase_I	Q8N0W4	NLGNX_HUMAN			5	1539	-			304					Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.912C>T	CCDS14126.1																																																																																				0.577	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		48	84	0	0	0	1	0	48	84					A	5821807	G	A	5821807	2	1	48	1	0	0	0	0	0	0	0	1	10473	1045	37	1		1	NLGN4X	23	5821807	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	10193	5821807	149448753	4384	8852										
KAL1	3730	broad.mit.edu	37	chrX	8553380	8553380	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacattcacagcagccactcGaaactggtaccatcggctgg	9	14	1	0	rs137852516		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:8553380G>A	ENST00000262648.3	-	6	933	c.784C>T	c.(784-786)Cga>Tga	p.R262*		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	262	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> P (in HH1; phenotype consistent with Kallmann syndrome). {ECO:0000269|PubMed:15605412}.		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						GCAGCCACTCGAAACTGGTAC	0.512																																						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	GRCh37	CM021282	KAL1	M	rs137852516	c.(784-786)Cga>Tga		Kallmann syndrome 1 sequence							179	125	143					X																	8553380		2203	4300	6503	SO:0001587	stop_gained	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8553380G>A		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.784C>T	X.37:g.8553380G>A	ENSP00000262648:p.Arg262*		Somatic					p.R262*	NM_000216.2	NP_000207.2	WXS	Illumina GAIIx	Phase_I	P23352	KALM_HUMAN			6	933	-			262		R -> P (in KAL1).	Fibronectin type-III 1.		B2RPF8	Nonsense_Mutation	SNP	ENST00000262648.3	37	c.784C>T	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	G	37	6.340671	0.97489	.	.	ENSG00000011201	ENST00000262648	.	.	.	3.74	3.74	0.42951	.	0.132039	0.49916	D	0.000137	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7046	0.40207	0.0:0.0:0.7931:0.2069	.	.	.	.	X	262	.	ENSP00000262648:R262X	R	-	1	2	KAL1	8513380	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	3.498000	0.53302	1.488000	0.48433	0.594000	0.82650	CGA		0.512	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		28	37	0	0	0	1	0	28	37					A	8553380	G	A	8553380	4	1	48	1	0	0	0	0	0	1	0	0	7983	1066	37	1	1294	1	KAL1	23	8553380	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2731573	8553380	146717180	4385	8853										
GPR143	4935	broad.mit.edu	37	chrX	9709432	9709432	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaggtttcaaagaacctccAttgatatctgtttgcatctc	6	10	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:9709432A>G	ENST00000467482.1	-	7	977	c.831T>C	c.(829-831)aaT>aaC	p.N277N	GPR143_ENST00000487206.1_5'Flank|GPR143_ENST00000380929.2_Silent_p.N297N			P51810	GP143_HUMAN	G protein-coupled receptor 143	277					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				AAGAACCTCCATTGATATCTG	0.318																																						ENST00000467482.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(829-831)aaT>aaC		G protein-coupled receptor 143							64	58	60					X																	9709432		2202	4300	6502	SO:0001819	synonymous_variant	4935				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	g.chrX:9709432A>G	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"GPCR / Unclassified : 7TM orphan receptors"	20145	protein-coding gene	gene with protein product	"ocular albinism 1"	300808	"ocular albinism 1 (Nettleship-Falls)"	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.831T>C	X.37:g.9709432A>G			Somatic				GPR143_ENST00000380929.2_Silent_p.N297N	p.N277N			WXS	Illumina GAIIx	Phase_I	P51810	GP143_HUMAN			7	977	-		Hepatocellular(5;0.000888)	277					Q6NTI7	Silent	SNP	ENST00000467482.1	37	c.831T>C	CCDS14134.2	.	.	.	.	.	.	.	.	.	.	A	6.302	0.423853	0.11928	.	.	ENSG00000101850	ENST00000447366	.	.	.	4.91	-1.9	0.07665	.	.	.	.	.	T	0.34513	0.0900	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33752	-0.9856	4	.	.	.	-2.61	10.745	0.46175	0.4811:0.0:0.5189:0.0	.	.	.	.	R	213	.	.	W	-	1	0	GPR143	9669432	0.000000	0.05858	0.000000	0.03702	0.963000	0.63663	-0.728000	0.04925	-0.841000	0.04200	0.486000	0.48141	TGG		0.318	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273		6	12	0	0	0	1	0	6	12					G	9709432	A	G	9709432	2	3	48	1	0	0	0	0	0	0	0	1	6659	214	8	4		4	GPR143	23	9709432	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1156052	9709432	145561128	4386	8854										
SHROOM2	357	broad.mit.edu	37	chrX	9862500	9862500	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttgacagcctggaccacccCtccagtcgcctctcggtggc	11	17	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:9862500C>A	ENST00000380913.3	+	4	642	c.552C>A	c.(550-552)ccC>ccA	p.P184P		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	184					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGGACCACCCCTCCAGTCGCC	0.622																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(550-552)ccC>ccA		shroom family member 2							73	60	65					X																	9862500		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:9862500C>A	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.552C>A	X.37:g.9862500C>A			Somatic					p.P184P	NM_001649.2	NP_001640.1	WXS	Illumina GAIIx	Phase_I	Q13796	SHRM2_HUMAN			4	642	+		Hepatocellular(5;0.000888)	184					B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.552C>A	CCDS14135.1																																																																																				0.622	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		23	44	1	0	3.8784e-16	1	5.13982e-16	23	44					A	9862500	C	A	9862500	2	1	48	1	0	0	0	0	0	0	0	1	14309	668	24	5		5	SHROOM2	23	9862500	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	153068	9862500	145408060	4387	8855										
CLCN4	1183	broad.mit.edu	37	chrX	10174814	10174814	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcgtgcttttcagtctagaaGaggtgagaatgggcagctga	15	6	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:10174814G>T	ENST00000380833.4	+	8	1232	c.841G>T	c.(841-843)Gag>Tag	p.E281*	CLCN4_ENST00000421085.2_Nonsense_Mutation_p.E187*|CLCN4_ENST00000380829.1_Nonsense_Mutation_p.E281*	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	281		Mediates proton transfer from the protein to the inner aqueous phase.			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						CAGTCTAGAAGAGGTGAGAAT	0.468																																					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.(841-843)Gag>Tag		chloride channel, voltage-sensitive 4							112	113	112					X																	10174814		2203	4300	6503	SO:0001587	stop_gained	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10174814G>T	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.841G>T	X.37:g.10174814G>T	ENSP00000370213:p.Glu281*		Somatic				CLCN4_ENST00000380829.1_Nonsense_Mutation_p.E281*|CLCN4_ENST00000421085.2_Nonsense_Mutation_p.E187*	p.E281*	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	WXS	Illumina GAIIx	Phase_I	P51793	CLCN4_HUMAN			8	1232	+			281				Mediates proton transfer from the protein to the inner aqueous phase.	A1L3U1|B7Z5Z4|Q9UBU1	Nonsense_Mutation	SNP	ENST00000380833.4	37	c.841G>T	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	G	40	8.008860	0.98607	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-38.1194	17.5376	0.87837	0.0:0.0:1.0:0.0	.	.	.	.	X	281;281;187	.	ENSP00000370209:E281X	E	+	1	0	CLCN4	10134814	1.000000	0.71417	0.989000	0.46669	0.970000	0.65996	9.366000	0.97143	2.156000	0.67533	0.600000	0.82982	GAG		0.468	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			45	84	1	0	3.4345e-17	1	4.60033e-17	45	84					T	10174814	G	T	10174814	4	4	48	1	0	0	0	0	0	1	0	0	3467	943	33	2	863	2	CLCN4	23	10174814	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	312314	10174814	145095746	4388	8856										
MID1	4281	broad.mit.edu	37	chrX	10491182	10491182	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agccaaaagggtctccagttCtgtgttcctcttaataaggt	9	9	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:10491182C>A	ENST00000317552.4	-	3	1106	c.706G>T	c.(706-708)Gaa>Taa	p.E236*	MID1_ENST00000380782.2_Nonsense_Mutation_p.E236*|MID1_ENST00000380785.1_Nonsense_Mutation_p.E236*|MID1_ENST00000380787.1_Nonsense_Mutation_p.E236*|MID1_ENST00000380779.1_Nonsense_Mutation_p.E236*|MID1_ENST00000453318.2_Nonsense_Mutation_p.E236*|MID1_ENST00000380780.1_Nonsense_Mutation_p.E236*	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	236					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						GTCTCCAGTTCTGTGTTCCTC	0.338																																						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.(706-708)Gaa>Taa		midline 1 (Opitz/BBB syndrome)							222	201	208					X																	10491182		2203	4300	6503	SO:0001587	stop_gained	0				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:10491182C>A	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.706G>T	X.37:g.10491182C>A	ENSP00000312678:p.Glu236*		Somatic				MID1_ENST00000380779.1_Nonsense_Mutation_p.E236*|MID1_ENST00000453318.2_Nonsense_Mutation_p.E236*|MID1_ENST00000380780.1_Nonsense_Mutation_p.E236*|MID1_ENST00000380782.2_Nonsense_Mutation_p.E236*|MID1_ENST00000380785.1_Nonsense_Mutation_p.E236*|MID1_ENST00000380787.1_Nonsense_Mutation_p.E236*	p.E236*	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	WXS	Illumina GAIIx	Phase_I	O15344	TRI18_HUMAN			3	1106	-			236					B2RCG2|O75361|Q9BZX5	Nonsense_Mutation	SNP	ENST00000317552.4	37	c.706G>T	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	40	7.938518	0.98571	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	.	.	.	4.96	4.96	0.65561	.	0.171732	0.50627	D	0.000115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	17.2878	0.87146	0.0:1.0:0.0:0.0	.	.	.	.	X	236;236;236;236;236;236;236;186;236	.	ENSP00000312678:E236X	E	-	1	0	MID1	10451182	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.042000	0.76565	2.195000	0.70347	0.506000	0.49869	GAA		0.338	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			46	63	1	0	3.21987e-24	1	4.51617e-24	46	63					A	10491182	C	A	10491182	4	1	48	1	0	0	0	0	0	1	0	0	9585	922	32	2	1329	2	MID1	23	10491182	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	316368	10491182	144779378	4389	8857										
HCCS	3052	broad.mit.edu	37	chrX	11139034	11139034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggggaattctagagagtgtCcttgtggtccatcattgatc	12	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:11139034C>T	ENST00000321143.4	+	6	731	c.529C>T	c.(529-531)Cct>Tct	p.P177S	HCCS_ENST00000380762.4_Missense_Mutation_p.P177S|ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380763.3_Missense_Mutation_p.P177S	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	177					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						TAGAGAGTGTCCTTGTGGTCC	0.383																																					Ovarian(86;1338 1347 1462 10340 37882)	ENST00000321143.4																			0				kidney(1)|large_intestine(3)|lung(3)	7						c.(529-531)Cct>Tct		holocytochrome c synthase							217	205	209					X																	11139034		2203	4300	6503	SO:0001583	missense	3052				organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding	g.chrX:11139034C>T		CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"cytochrome c heme-lyase"	300056	"holocytochrome c synthase (cytochrome c heme-lyase)", "microphthalamia with linear skin defects"	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.529C>T	X.37:g.11139034C>T	ENSP00000326579:p.Pro177Ser		Somatic				HCCS_ENST00000380763.3_Missense_Mutation_p.P177S|ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380762.4_Missense_Mutation_p.P177S	p.P177S	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	WXS	Illumina GAIIx	Phase_I	P53701	CCHL_HUMAN			6	731	+			177					B3KUS1|Q502X8	Missense_Mutation	SNP	ENST00000321143.4	37	c.529C>T	CCDS14139.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118593	0.56505	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.81739	-1.53;-1.53;-1.53	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.76898	0.4052	M	0.67517	2.055	0.80722	D	1	B	0.32968	0.392	B	0.30401	0.115	T	0.73707	-0.3898	10	0.09338	T	0.73	-20.1007	16.2611	0.82547	0.0:1.0:0.0:0.0	.	177	P53701	CCHL_HUMAN	S	177	ENSP00000326579:P177S;ENSP00000370140:P177S;ENSP00000370139:P177S	ENSP00000326579:P177S	P	+	1	0	HCCS	11048955	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.213000	0.77950	2.444000	0.82710	0.600000	0.82982	CCT		0.383	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055742.1			33	147	0	0	0	1	0	33	147					T	11139034	C	T	11139034	3	4	48	1	0	0	0	0	1	0	0	0	6999	855	30	3	547	3	HCCS	23	11139034	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	647852	11139034	144131526	4390	8858										
ARHGAP6	395	broad.mit.edu	37	chrX	11162029	11162029	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagaaggtccgaagagccccAcaccatgccacatgcaacaa	9	14	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:11162029A>G	ENST00000337414.4	-	11	3049				ARHGAP6_ENST00000303025.6_Intron|ARHGAP6_ENST00000380718.1_Silent_p.C749C|ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Intron	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6						actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GAAGAGCCCCACACCATGCCA	0.522											OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380718.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2245-2247)tgT>tgC		Rho GTPase activating protein 6							134	130	131					X																	11162029		2203	4300	6503	SO:0001627	intron_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11162029A>G	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.2176+70T>C	X.37:g.11162029A>G			Somatic	OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	670	ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000303025.6_Intron	p.C749C	NM_006125.2	NP_006116.2	WXS	Illumina GAIIx	Phase_I	O43182	RHG06_HUMAN			11	3119	-			0					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	ENST00000337414.4	37	c.2247T>C	CCDS14140.1																																																																																				0.522	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		119	244	0	0	0	1	0	119	244					G	11162029	A	G	11162029	1	3	48	0	1	0	0	0	0	0	0	0	887	157	6	4		4	ARHGAP6	23	11162029	Intron	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	22995	11162029	144108531	4391	8859										
ARHGAP6	395	broad.mit.edu	37	chrX	11187706	11187706	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctcagcccgggctgaactCtgaactgagaattctttgtc	9	12	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:11187706C>A	ENST00000337414.4	-	9	2600	c.1728G>T	c.(1726-1728)caG>caT	p.Q576H	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.Q373H|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.Q576H|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.Q608H|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.Q385H|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.Q401H|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.Q373H	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	576	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGGCTGAACTCTGAACTGAGA	0.473																																						ENST00000337414.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1726-1728)caG>caT		Rho GTPase activating protein 6							161	130	140					X																	11187706		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:11187706C>A	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.1728G>T	X.37:g.11187706C>A	ENSP00000338967:p.Gln576His		Somatic				ARHGAP6_ENST00000413512.3_Missense_Mutation_p.Q385H|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.Q373H|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.Q576H|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.Q608H|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.Q401H|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.Q373H	p.Q576H	NM_013427.2	NP_038286.2	WXS	Illumina GAIIx	Phase_I	O43182	RHG06_HUMAN			9	2600	-			576			Rho-GAP.		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.1728G>T	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280103	0.80692	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.57	5.57	0.84162	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.50627	D	0.000116	T	0.59418	0.2192	M	0.69358	2.11	0.80722	D	1	P;D;D;D;D	0.69078	0.838;0.974;0.993;0.994;0.997	B;P;D;P;P	0.65010	0.293;0.775;0.931;0.854;0.898	T	0.60464	-0.7258	10	0.49607	T	0.09	.	12.8841	0.58034	0.0:0.9206:0.0:0.0794	.	385;373;576;576;576	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	H	401;373;373;576;412;576;385;608	ENSP00000438135:Q401H;ENSP00000370112:Q373H;ENSP00000302312:Q373H;ENSP00000338967:Q576H;ENSP00000370093:Q412H;ENSP00000370094:Q576H;ENSP00000389394:Q385H;ENSP00000370108:Q608H	ENSP00000302312:Q373H	Q	-	3	2	ARHGAP6	11097627	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	2.879000	0.48522	2.344000	0.79699	0.544000	0.68410	CAG		0.473	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		17	63	1	0	8.60227e-14	1	1.10942e-13	17	63					A	11187706	C	A	11187706	3	1	48	1	0	0	0	0	1	0	0	0	887	912	32	2	1338	2	ARHGAP6	23	11187706	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	25677	11187706	144082854	4392	8860										
ARHGAP6	395	broad.mit.edu	37	chrX	11682852	11682852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtccaggctgcgggtctggcGcagcttcctcttggagaagc	15	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:11682852G>A	ENST00000337414.4	-	1	969	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.R33C|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.R33C	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	33					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGGGTCTGGCGCAGCTTCCTC	0.721																																						ENST00000337414.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(97-99)Cgc>Tgc		Rho GTPase activating protein 6							5	6	6					X																	11682852		1767	3565	5332	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:11682852G>A	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.97C>T	X.37:g.11682852G>A	ENSP00000338967:p.Arg33Cys		Somatic				ARHGAP6_ENST00000380718.1_Missense_Mutation_p.R33C|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.R33C	p.R33C	NM_013427.2	NP_038286.2	WXS	Illumina GAIIx	Phase_I	O43182	RHG06_HUMAN			1	969	-			33					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.97C>T	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933064	0.92458	.	.	ENSG00000047648	ENST00000337414;ENST00000380718;ENST00000380732	T;T;T	0.53857	1.06;0.84;0.6	4.82	4.82	0.62117	.	.	.	.	.	T	0.59238	0.2179	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.981	T	0.65022	-0.6269	9	0.87932	D	0	.	14.4354	0.67277	0.0:0.0:1.0:0.0	.	33;33	O43182-2;O43182	.;RHG06_HUMAN	C	33	ENSP00000338967:R33C;ENSP00000370094:R33C;ENSP00000370108:R33C	ENSP00000338967:R33C	R	-	1	0	ARHGAP6	11592773	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.179000	0.71974	1.987000	0.57996	0.594000	0.82650	CGC		0.721	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		5	10	0	0	0	1	0	5	10					A	11682852	G	A	11682852	3	1	48	1	0	0	0	0	1	0	0	0	887	1087	38	1	3001	1	ARHGAP6	23	11682852	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	495146	11682852	143587708	4393	8861										
TLR8	51311	broad.mit.edu	37	chrX	12938499	12938499	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttatgcaaatagttcctcttTtcaacgtcatatccggaaac	5	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:12938499T>C	ENST00000218032.6	+	2	1427	c.1340T>C	c.(1339-1341)tTt>tCt	p.F447S	TLR8_ENST00000311912.5_Missense_Mutation_p.F465S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	447					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)	AGTTCCTCTTTTCAACGTCAT	0.378																																						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.(1339-1341)tTt>tCt		toll-like receptor 8							64	61	62					X																	12938499		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12938499T>C	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.1340T>C	X.37:g.12938499T>C	ENSP00000218032:p.Phe447Ser		Somatic				TLR8_ENST00000311912.5_Missense_Mutation_p.F465S	p.F447S	NM_138636.4	NP_619542.1	WXS	Illumina GAIIx	Phase_I	Q9NR97	TLR8_HUMAN			2	1427	+			447					B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.1340T>C	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	T	0.043	-1.276187	0.01410	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.44881	0.91;0.91	4.93	-3.85	0.04243	.	0.643773	0.12863	N	0.432925	T	0.18257	0.0438	N	0.12182	0.205	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.08055	0.003;0.003	T	0.18903	-1.0322	10	0.22109	T	0.4	.	6.706	0.23250	0.0:0.3755:0.4425:0.182	.	447;465	Q9NR97;D1CS70	TLR8_HUMAN;.	S	447;465	ENSP00000218032:F447S;ENSP00000312082:F465S	ENSP00000218032:F447S	F	+	2	0	TLR8	12848420	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.355000	0.07671	-0.686000	0.05170	0.486000	0.48141	TTT		0.378	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		43	18	0	0	0	1	0	43	18					C	12938499	T	C	12938499	3	2	48	1	0	0	0	0	1	0	0	0	15972	1841	64	4	1346	4	TLR8	23	12938499	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1255647	12938499	142332061	4394	8862										
ATXN3L	92552	broad.mit.edu	37	chrX	13337045	13337045	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctaaaatggtgtcgacagCggcctgtactgtgccttcac	10	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:13337045C>T	ENST00000380622.2	-	1	1473	c.1009G>A	c.(1009-1011)Gct>Act	p.A337T	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	337					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GTGTCGACAGCGGCCTGTACT	0.393																																						ENST00000380622.2																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1009-1011)Gct>Act		ataxin 3-like							172	149	156					X																	13337045		1568	3582	5150	SO:0001583	missense	92552				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	g.chrX:13337045C>T		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.1009G>A	X.37:g.13337045C>T	ENSP00000369996:p.Ala337Thr		Somatic				GS1-600G8.3_ENST00000431486.1_RNA	p.A337T	NM_001135995.1	NP_001129467.1	WXS	Illumina GAIIx	Phase_I	Q9H3M9	ATX3L_HUMAN			1	1473	-			337					B2RNY8	Missense_Mutation	SNP	ENST00000380622.2	37	c.1009G>A	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	C	1.948	-0.442039	0.04604	.	.	ENSG00000123594	ENST00000380622	T	0.23950	1.88	0.793	-1.3	0.09259	.	0.075019	0.56097	N	0.000038	T	0.10121	0.0248	N	0.12746	0.255	0.09310	N	1	B	0.14438	0.01	B	0.15484	0.013	T	0.14504	-1.0470	9	0.31617	T	0.26	.	.	.	.	.	337	Q9H3M9	ATX3L_HUMAN	T	337	ENSP00000369996:A337T	ENSP00000369996:A337T	A	-	1	0	ATXN3L	13246966	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-2.478000	0.00984	-0.798000	0.04444	-1.606000	0.00808	GCT		0.393	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		37	38	0	0	0	1	0	37	38					T	13337045	C	T	13337045	3	4	48	1	0	0	0	0	1	0	0	0	1214	768	27	1	62	1	ATXN3L	23	13337045	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	398546	13337045	141933515	4395	8863										
ATXN3L	92552	broad.mit.edu	37	chrX	13337601	13337601	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttgttgtaatcgagccaaGaaatttgcaaggcatgtatc	10	6	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:13337601G>T	ENST00000380622.2	-	1	917	c.453C>A	c.(451-453)ttC>ttA	p.F151L	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	151	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.F151L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATCGAGCCAAGAAATTTGCAA	0.398																																						ENST00000380622.2																			1	Substitution - Missense(1)	p.F151L(1)	large_intestine(1)	endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(451-453)ttC>ttA		ataxin 3-like							67	62	64					X																	13337601		1568	3582	5150	SO:0001583	missense	92552				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	g.chrX:13337601G>T		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.453C>A	X.37:g.13337601G>T	ENSP00000369996:p.Phe151Leu		Somatic				GS1-600G8.3_ENST00000431486.1_RNA	p.F151L	NM_001135995.1	NP_001129467.1	WXS	Illumina GAIIx	Phase_I	Q9H3M9	ATX3L_HUMAN			1	917	-			151			Josephin.		B2RNY8	Missense_Mutation	SNP	ENST00000380622.2	37	c.453C>A	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478045	0.26511	.	.	ENSG00000123594	ENST00000380622	T	0.50813	0.73	0.661	0.661	0.17874	.	0.090728	0.85682	D	0.000000	T	0.48660	0.1512	M	0.78916	2.43	0.51767	D	0.999934	B	0.29716	0.255	B	0.37780	0.258	T	0.50783	-0.8787	10	0.62326	D	0.03	.	6.936	0.24466	1.0E-4:0.0:0.9999:0.0	.	151	Q9H3M9	ATX3L_HUMAN	L	151	ENSP00000369996:F151L	ENSP00000369996:F151L	F	-	3	2	ATXN3L	13247522	1.000000	0.71417	0.002000	0.10522	0.001000	0.01503	1.154000	0.31688	0.579000	0.29504	0.422000	0.28245	TTC		0.398	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		17	17	1	0	1.5739e-10	1	1.93697e-10	17	17					T	13337601	G	T	13337601	3	4	48	1	0	0	0	0	1	0	0	0	1214	933	33	2	618	2	ATXN3L	23	13337601	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	556	13337601	141932959	4396	8864										
PIGA	5277	broad.mit.edu	37	chrX	15344081	15344081	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaacttcttccaaaatgattCtctttggtccctctcctcca	4	14	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15344081C>A	ENST00000333590.4	-	3	887	c.803G>T	c.(802-804)aGa>aTa	p.R268I	PIGA_ENST00000428964.1_5'UTR|PIGA_ENST00000542278.1_Missense_Mutation_p.R34I|PIGA_ENST00000482148.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	268					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)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					CAAAATGATTCTCTTTGGTCC	0.358																																						ENST00000333590.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(802-804)aGa>aTa		phosphatidylinositol glycan anchor biosynthesis, class A							151	134	140					X																	15344081		2203	4300	6503	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:15344081C>A	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.803G>T	X.37:g.15344081C>A	ENSP00000369820:p.Arg268Ile		Somatic				PIGA_ENST00000542278.1_Missense_Mutation_p.R34I|PIGA_ENST00000482148.1_Intron|PIGA_ENST00000428964.1_5'UTR	p.R268I	NM_002641.3	NP_002632.1	WXS	Illumina GAIIx	Phase_I	P37287	PIGA_HUMAN			3	887	-	Hepatocellular(33;0.183)		268					B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	ENST00000333590.4	37	c.803G>T	CCDS14165.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134561	0.94517	.	.	ENSG00000165195	ENST00000542278;ENST00000333590	T;T	0.77358	-1.09;-1.08	6.17	6.17	0.99709	Glycosyl transferase, family 1 (1);	0.079361	0.85682	D	0.000000	D	0.92077	0.7489	H	0.97186	3.955	0.80722	D	1	D;D	0.71674	0.992;0.998	D;D	0.70227	0.968;0.95	D	0.92456	0.5974	10	0.34782	T	0.22	-17.6905	18.5888	0.91200	0.0:1.0:0.0:0.0	.	34;268	B4E0V2;P37287	.;PIGA_HUMAN	I	34;268	ENSP00000442653:R34I;ENSP00000369820:R268I	ENSP00000369820:R268I	R	-	2	0	PIGA	15254002	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.263000	0.78421	2.618000	0.88619	0.600000	0.82982	AGA		0.358	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641		33	78	1	0	1.56442e-22	1	2.17472e-22	33	78					A	15344081	C	A	15344081	3	1	48	1	0	0	0	0	1	0	0	0	11893	913	32	2	667	2	PIGA	23	15344081	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2006480	15344081	139926479	4397	8865										
PIGA	5277	broad.mit.edu	37	chrX	15349745	15349745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gactgtgaaagagggtcgtgGctgtagactggttgtacatg	16	5	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15349745G>A	ENST00000333590.4	-	2	392	c.308C>T	c.(307-309)gCc>gTc	p.A103V	PIGA_ENST00000428964.1_Intron|PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_5'UTR	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	103					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)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					GAGGGTCGTGGCTGTAGACTG	0.458																																						ENST00000333590.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(307-309)gCc>gTc		phosphatidylinositol glycan anchor biosynthesis, class A							158	136	144					X																	15349745		2203	4300	6503	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:15349745G>A	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.308C>T	X.37:g.15349745G>A	ENSP00000369820:p.Ala103Val		Somatic				PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Intron	p.A103V	NM_002641.3	NP_002632.1	WXS	Illumina GAIIx	Phase_I	P37287	PIGA_HUMAN			2	392	-	Hepatocellular(33;0.183)		103					B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	ENST00000333590.4	37	c.308C>T	CCDS14165.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662805	0.67700	.	.	ENSG00000165195	ENST00000333590	T	0.75367	-0.93	5.88	5.88	0.94601	PIGA, GPI anchor biosynthesis (1);	0.147565	0.64402	D	0.000010	T	0.77565	0.4149	N	0.24115	0.695	0.80722	D	1	D;D;P	0.69078	0.972;0.997;0.698	P;D;B	0.65443	0.654;0.935;0.338	T	0.76168	-0.3058	10	0.32370	T	0.25	-13.5297	18.0155	0.89239	0.0:0.0:1.0:0.0	.	103;103;103	A8K382;P37287-2;P37287	.;.;PIGA_HUMAN	V	103	ENSP00000369820:A103V	ENSP00000369820:A103V	A	-	2	0	PIGA	15259666	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.330000	0.96422	2.476000	0.83614	0.544000	0.68410	GCC		0.458	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641		42	91	0	0	0	1	0	42	91					A	15349745	G	A	15349745	3	1	48	1	0	0	0	0	1	0	0	0	11893	1203	42	3	1166	3	PIGA	23	15349745	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	5664	15349745	139920815	4398	8866										
BMX	660	broad.mit.edu	37	chrX	15549500	15549500	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcgagccaagtgggaatgtAcacagtgtccttatttagta	10	7	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15549500A>G	ENST00000357607.2	+	11	1177	c.989A>G	c.(988-990)tAc>tGc	p.Y330C	BMX_ENST00000342014.6_Missense_Mutation_p.Y330C|BMX_ENST00000348343.6_Missense_Mutation_p.Y330C			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	330	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)					GTGGGAATGTACACAGTGTCC	0.338																																						ENST00000357607.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(988-990)tAc>tGc		BMX non-receptor tyrosine kinase							174	171	172					X																	15549500		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:15549500A>G	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.989A>G	X.37:g.15549500A>G	ENSP00000350224:p.Tyr330Cys		Somatic				BMX_ENST00000342014.6_Missense_Mutation_p.Y330C|BMX_ENST00000348343.6_Missense_Mutation_p.Y330C	p.Y330C			WXS	Illumina GAIIx	Phase_I	P51813	BMX_HUMAN			11	1177	+	Hepatocellular(33;0.183)		330			SH2.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.989A>G	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900031	0.72754	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.92048	-2.96;-2.96;-2.96	5.45	5.45	0.79879	SH2 motif (4);	0.000000	0.56097	D	0.000028	D	0.96589	0.8887	M	0.91663	3.23	0.52099	D	0.999943	D	0.89917	1.0	D	0.91635	0.999	D	0.97184	0.9853	10	0.87932	D	0	.	12.3504	0.55144	1.0:0.0:0.0:0.0	.	330	P51813	BMX_HUMAN	C	330	ENSP00000350224:Y330C;ENSP00000308774:Y330C;ENSP00000340082:Y330C	ENSP00000340082:Y330C	Y	+	2	0	BMX	15459421	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.815000	0.75242	1.821000	0.53095	0.486000	0.48141	TAC		0.338	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		36	70	0	0	0	1	0	36	70					G	15549500	A	G	15549500	3	3	48	1	0	0	0	0	1	0	0	0	1473	391	14	4	1027	4	BMX	23	15549500	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	199755	15549500	139721060	4399	8867										
ACE2	59272	broad.mit.edu	37	chrX	15589793	15589793	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaaaagaattcttgttctgGtctttcagccaggtaaataa	7	7	4	1	rs145437639	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15589793G>C	ENST00000252519.3	-	13	1893	c.1791C>G	c.(1789-1791)gaC>gaG	p.D597E	ACE2_ENST00000427411.1_Missense_Mutation_p.D597E			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	597					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)	TCTTGTTCTGGTCTTTCAGCC	0.453																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(1789-1791)gaC>gaG		angiotensin I converting enzyme 2	Moexipril(DB00691)						191	172	178					X																	15589793		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:15589793G>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.1791C>G	X.37:g.15589793G>C	ENSP00000252519:p.Asp597Glu		Somatic				ACE2_ENST00000252519.3_Missense_Mutation_p.D597E	p.D597E	NM_021804.2	NP_068576.1	WXS	Illumina GAIIx	Phase_I	Q9BYF1	ACE2_HUMAN			14	2007	-	Hepatocellular(33;0.183)		597					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.1791C>G	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	G	0.217	-1.032085	0.02029	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.27104	1.69;1.69	5.71	-11.4	0.00090	.	0.688403	0.14733	N	0.301659	T	0.04182	0.0116	N	0.00500	-1.43	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.21930	-1.0231	10	0.02654	T	1	-0.0455	12.2858	0.54791	0.0513:0.528:0.1212:0.2995	.	597	Q9BYF1	ACE2_HUMAN	E	597	ENSP00000252519:D597E;ENSP00000389326:D597E	ENSP00000252519:D597E	D	-	3	2	ACE2	15499714	0.000000	0.05858	0.001000	0.08648	0.967000	0.64934	-1.849000	0.01672	-4.408000	0.00051	-1.003000	0.02500	GAC		0.453	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			43	85	0	0	0	1	0	43	85					C	15589793	G	C	15589793	3	2	48	1	0	0	0	0	1	0	0	0	137	1252	44	5	650	5	ACE2	23	15589793	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	40293	15589793	139680767	4400	8868										
CA5B	11238	broad.mit.edu	37	chrX	15800776	15800776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaagccggccaccagccaaGcaaccccctaaaacattcat	5	18	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15800776G>A	ENST00000318636.3	+	8	1079	c.943G>A	c.(943-945)Gca>Aca	p.A315T	CA5B_ENST00000454127.2_Missense_Mutation_p.A315T	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	0						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					CACCAGCCAAGCAACCCCCTA	0.438																																						ENST00000318636.3																			0				endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9						c.(943-945)Gca>Aca		carbonic anhydrase VB, mitochondrial							78	71	74					X																	15800776		2203	4300	6503	SO:0001583	missense	11238				one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding	g.chrX:15800776G>A	AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"Carbonic anhydrases"	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.943G>A	X.37:g.15800776G>A	ENSP00000314099:p.Ala315Thr		Somatic				CA5B_ENST00000454127.2_Missense_Mutation_p.A315T	p.A315T	NM_007220.3	NP_009151.1	WXS	Illumina GAIIx	Phase_I	Q9Y2D0	CAH5B_HUMAN			8	1079	+	Hepatocellular(33;0.183)		315					A6NEZ4	Missense_Mutation	SNP	ENST00000318636.3	37	c.943G>A	CCDS14171.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272472	0.40194	.	.	ENSG00000169239	ENST00000318636;ENST00000454127	T;T	0.69175	-0.38;-0.38	5.39	1.56	0.23342	.	1.739780	0.02554	N	0.095944	T	0.47210	0.1433	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38243	-0.9670	10	0.52906	T	0.07	6.0E-4	4.8064	0.13323	0.3559:0.1533:0.4908:0.0	.	315	Q9Y2D0	CAH5B_HUMAN	T	315	ENSP00000314099:A315T;ENSP00000417021:A315T	ENSP00000314099:A315T	A	+	1	0	CA5B	15710697	0.150000	0.22732	0.040000	0.18447	0.229000	0.25112	0.818000	0.27295	0.194000	0.20326	0.600000	0.82982	GCA		0.438	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354933.1	NM_007220		18	59	0	0	0	1	0	18	59					A	15800776	G	A	15800776	3	1	48	1	0	0	0	0	1	0	0	0	2522	971	34	3	969	3	CA5B	23	15800776	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	210983	15800776	139469784	4401	8869										
GRPR	2925	broad.mit.edu	37	chrX	16170395	16170395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttagattgaatcccggaagcGacttgccaagacagtgctgg	12	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:16170395G>A	ENST00000380289.2	+	3	1180	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	261					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)					TCCCGGAAGCGACTTGCCAAG	0.517																																						ENST00000380289.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(781-783)cGa>cAa		gastrin-releasing peptide receptor							107	96	100					X																	16170395		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16170395G>A		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.782G>A	X.37:g.16170395G>A	ENSP00000369643:p.Arg261Gln		Somatic					p.R261Q	NM_005314.2	NP_005305.1	WXS	Illumina GAIIx	Phase_I	P30550	GRPR_HUMAN			3	1180	+	Hepatocellular(33;0.183)		261					B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.782G>A	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065530	0.93898	.	.	ENSG00000126010	ENST00000380289;ENST00000535371	T	0.40225	1.04	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63094	0.2482	M	0.63169	1.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66516	-0.5904	10	0.72032	D	0.01	-10.4669	16.8049	0.85623	0.0:0.0:1.0:0.0	.	261	P30550	GRPR_HUMAN	Q	261;50	ENSP00000369643:R261Q	ENSP00000369643:R261Q	R	+	2	0	GRPR	16080316	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.173000	0.68751	0.600000	0.82982	CGA		0.517	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		47	91	0	0	0	1	0	47	91					A	16170395	G	A	16170395	3	1	48	1	0	0	0	0	1	0	0	0	6817	1058	37	1	792	1	GRPR	23	16170395	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	369619	16170395	139100165	4402	8870										
REPS2	9185	broad.mit.edu	37	chrX	17153397	17153397	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccacaggatgtactgtattCtcagccaccatcaaagccca	6	14	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:17153397C>A	ENST00000357277.3	+	16	1847	c.1676C>A	c.(1675-1677)tCt>tAt	p.S559Y	REPS2_ENST00000380064.4_Missense_Mutation_p.S358Y|REPS2_ENST00000303843.7_Missense_Mutation_p.S558Y|REPS2_ENST00000469714.1_3'UTR	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	559	Interaction with RALBP1.				epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GTACTGTATTCTCAGCCACCA	0.423																																						ENST00000357277.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17						c.(1675-1677)tCt>tAt		RALBP1 associated Eps domain containing 2							122	126	125					X																	17153397		2203	4299	6502	SO:0001583	missense	9185				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	g.chrX:17153397C>A	AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"EF-hand domain containing"	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1676C>A	X.37:g.17153397C>A	ENSP00000349824:p.Ser559Tyr		Somatic				REPS2_ENST00000303843.7_Missense_Mutation_p.S558Y|REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000380064.4_Missense_Mutation_p.S358Y	p.S559Y	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	WXS	Illumina GAIIx	Phase_I	Q8NFH8	REPS2_HUMAN			16	1847	+	Hepatocellular(33;0.183)		559			Interaction with RALBP1.		A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	ENST00000357277.3	37	c.1676C>A	CCDS14180.2	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860974	0.32884	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	T;T;T	0.34472	1.37;1.36;1.37	5.27	4.41	0.53225	.	0.453160	0.20852	N	0.084507	T	0.37812	0.1017	L	0.50333	1.59	0.28771	N	0.900365	P;P;P	0.46220	0.828;0.809;0.874	B;B;P	0.47206	0.347;0.397;0.541	T	0.34079	-0.9843	10	0.66056	D	0.02	-6.6299	8.0881	0.30784	0.1565:0.7604:0.0:0.0831	.	358;558;559	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	Y	559;559;558;358	ENSP00000349824:S559Y;ENSP00000306033:S558Y;ENSP00000369404:S358Y	ENSP00000306033:S558Y	S	+	2	0	REPS2	17063318	1.000000	0.71417	0.977000	0.42913	0.855000	0.48748	3.430000	0.52807	1.112000	0.41740	0.600000	0.82982	TCT		0.423	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1	NM_004726		99	181	1	0	3.11363e-52	1	4.52285e-52	99	181					A	17153397	C	A	17153397	3	1	48	1	0	0	0	0	1	0	0	0	13244	913	32	2	1738	2	REPS2	23	17153397	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	983002	17153397	138117163	4403	8871										
NHS	4810	broad.mit.edu	37	chrX	17746280	17746280	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttatgagccgccaccatgacAaagtgcctggtactatcagc	9	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:17746280A>G	ENST00000380060.3	+	6	4329	c.3991A>G	c.(3991-3993)Aaa>Gaa	p.K1331E	NHS_ENST00000398097.3_Missense_Mutation_p.K1175E	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1352					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)					CCACCATGACAAAGTGCCTGG	0.393																																						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.(3991-3993)Aaa>Gaa		Nance-Horan syndrome (congenital cataracts and dental anomalies)							116	100	105					X																	17746280		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17746280A>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.3991A>G	X.37:g.17746280A>G	ENSP00000369400:p.Lys1331Glu		Somatic				NHS_ENST00000398097.3_Missense_Mutation_p.K1175E	p.K1331E	NM_198270.2	NP_938011.1	WXS	Illumina GAIIx	Phase_I	Q6T4R5	NHS_HUMAN			6	4329	+	Hepatocellular(33;0.183)		1331					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.3991A>G	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.322926	0.60634	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.49720	0.77;0.79	5.74	1.68	0.24146	.	0.311818	0.33732	N	0.004612	T	0.46889	0.1416	L	0.56769	1.78	0.28899	N	0.893374	P;P;P;P	0.46859	0.775;0.51;0.51;0.885	B;B;B;P	0.48189	0.225;0.164;0.164;0.57	T	0.48139	-0.9061	10	0.09843	T	0.71	-12.9789	13.8274	0.63359	0.5068:0.4931:0.0:0.0	.	1352;1173;1175;1331	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	E	1331;1175;1173	ENSP00000369400:K1331E;ENSP00000381170:K1175E	ENSP00000369397:K1173E	K	+	1	0	NHS	17656201	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	4.450000	0.60041	0.261000	0.21753	0.441000	0.28932	AAA		0.393	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		38	86	0	0	0	1	0	38	86					G	17746280	A	G	17746280	3	3	48	1	0	0	0	0	1	0	0	0	10420	131	5	4	4118	4	NHS	23	17746280	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	592883	17746280	137524280	4404	8872										
BEND2	139105	broad.mit.edu	37	chrX	18230697	18230697	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atatctacctctggagtataGaatcttcctctttttggaaa	6	8	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:18230697G>T	ENST00000380033.4	-	4	612	c.480C>A	c.(478-480)ttC>ttA	p.F160L	BEND2_ENST00000380030.3_Missense_Mutation_p.F160L	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	160								p.F160F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTGGAGTATAGAATCTTCCTC	0.328																																						ENST00000380033.4																			1	Substitution - coding silent(1)	p.F160F(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(478-480)ttC>ttA		BEN domain containing 2							150	139	143					X																	18230697		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18230697G>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.480C>A	X.37:g.18230697G>T	ENSP00000369372:p.Phe160Leu		Somatic				BEND2_ENST00000380030.3_Missense_Mutation_p.F160L	p.F160L	NM_153346.4	NP_699177.2	WXS	Illumina GAIIx	Phase_I	Q8NDZ0	BEND2_HUMAN			4	612	-			160					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.480C>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.960951	0.00465	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.26223	1.82;1.75	3.51	-4.84	0.03151	.	4.302610	0.00659	N	0.000599	T	0.07007	0.0178	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24835	-1.0149	10	0.02654	T	1	.	1.166	0.01815	0.4777:0.1099:0.1613:0.2511	.	160;160	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	L	160	ENSP00000369372:F160L;ENSP00000369369:F160L	ENSP00000369369:F160L	F	-	3	2	BEND2	18140618	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.536000	0.00438	-0.750000	0.04740	-2.268000	0.00277	TTC		0.328	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		4	49	1	0	0.00024832	1	0.000265255	4	49					T	18230697	G	T	18230697	3	4	48	1	0	0	0	0	1	0	0	0	1398	933	33	2	1989	2	BEND2	23	18230697	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	484417	18230697	137039863	4405	8873										
SCML2	10389	broad.mit.edu	37	chrX	18260638	18260638	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgtatcacttcatccacaGaccaggttgaagggtcctta	8	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:18260638G>T	ENST00000251900.4	-	14	2054	c.1895C>A	c.(1894-1896)tCt>tAt	p.S632Y	SCML2_ENST00000398048.3_Intron|SCML2_ENST00000491988.1_5'Flank	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	632	SAM.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTCATCCACAGACCAGGTTGA	0.458																																					Esophageal Squamous(100;1252 1965 19021 35517)	ENST00000251900.4																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1894-1896)tCt>tAt		sex comb on midleg-like 2 (Drosophila)							111	92	98					X																	18260638		2203	4300	6503	SO:0001583	missense	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18260638G>T	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"Sterile alpha motif (SAM) domain containing"	10581	protein-coding gene	gene with protein product		300208	"sex comb on midleg (Drosophila)-like 2"			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1895C>A	X.37:g.18260638G>T	ENSP00000251900:p.Ser632Tyr		Somatic				SCML2_ENST00000398048.3_Intron	p.S632Y	NM_006089.2	NP_006080.1	WXS	Illumina GAIIx	Phase_I	Q9UQR0	SCML2_HUMAN			14	2054	-	Hepatocellular(33;0.183)		632			SAM.		Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	ENST00000251900.4	37	c.1895C>A	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044545	0.75732	.	.	ENSG00000102098	ENST00000251900	T	0.56103	0.48	5.08	5.08	0.68730	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.227424	0.38959	N	0.001504	T	0.81138	0.4760	H	0.95539	3.685	0.80722	D	1	D	0.67145	0.996	D	0.74348	0.983	D	0.87499	0.2432	10	0.87932	D	0	.	18.057	0.89366	0.0:0.0:1.0:0.0	.	632	Q9UQR0	SCML2_HUMAN	Y	632	ENSP00000251900:S632Y	ENSP00000251900:S632Y	S	-	2	0	SCML2	18170559	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.149000	0.58091	2.288000	0.76882	0.591000	0.81541	TCT		0.458	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		13	84	1	0	1.5842e-08	1	1.87418e-08	13	84					T	18260638	G	T	18260638	3	4	48	1	0	0	0	0	1	0	0	0	13925	942	33	2	215	2	SCML2	23	18260638	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	29941	18260638	137009922	4406	8874										
CDKL5	6792	broad.mit.edu	37	chrX	18622738	18622738	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgaaccacaaccagacattCtaagacgatggaggaattga	9	9	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:18622738C>A	ENST00000379989.3	+	13	1979	c.1694C>A	c.(1693-1695)tCt>tAt	p.S565Y	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.S565Y	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	565					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					ACCAGACATTCTAAGACGATG	0.502																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(1693-1695)tCt>tAt		cyclin-dependent kinase-like 5							130	116	121					X																	18622738		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18622738C>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1694C>A	X.37:g.18622738C>A	ENSP00000369325:p.Ser565Tyr		Somatic				CDKL5_ENST00000379996.3_Missense_Mutation_p.S565Y|CDKL5_ENST00000463994.1_3'UTR	p.S565Y	NM_001037343.1	NP_001032420.1	WXS	Illumina GAIIx	Phase_I	O76039	CDKL5_HUMAN			13	1979	+	Hepatocellular(33;0.183)		565					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.1694C>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000830	0.54254	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71461	-0.57;-0.57	5.92	5.04	0.67666	.	0.000000	0.64402	D	0.000001	T	0.63070	0.2480	L	0.29908	0.895	0.26578	N	0.973431	D	0.56035	0.974	B	0.43082	0.407	T	0.61436	-0.7063	10	0.87932	D	0	-14.4307	16.0595	0.80830	0.0:0.8694:0.1306:0.0	.	565	O76039	CDKL5_HUMAN	Y	565	ENSP00000369332:S565Y;ENSP00000369325:S565Y	ENSP00000369325:S565Y	S	+	2	0	CDKL5	18532659	1.000000	0.71417	0.798000	0.32154	0.882000	0.50991	4.809000	0.62591	1.223000	0.43536	0.600000	0.82982	TCT		0.502	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		13	154	1	0	0.00010058	1	0.000108553	13	154					A	18622738	C	A	18622738	3	1	48	1	0	0	0	0	1	0	0	0	3159	913	32	2	1736	2	CDKL5	23	18622738	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	362100	18622738	136647822	4407	8875										
CDKL5	6792	broad.mit.edu	37	chrX	18626974	18626974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgactgtggcaagatcttCggtcaaagagacctccagag	12	9	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:18626974C>T	ENST00000379989.3	+	14	2273	c.1988C>T	c.(1987-1989)tCg>tTg	p.S663L	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.S663L	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	663					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GCAAGATCTTCGGTCAAAGAG	0.438																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(1987-1989)tCg>tTg		cyclin-dependent kinase-like 5							78	68	72					X																	18626974		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18626974C>T	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1988C>T	X.37:g.18626974C>T	ENSP00000369325:p.Ser663Leu		Somatic				CDKL5_ENST00000379996.3_Missense_Mutation_p.S663L|CDKL5_ENST00000463994.1_3'UTR	p.S663L	NM_001037343.1	NP_001032420.1	WXS	Illumina GAIIx	Phase_I	O76039	CDKL5_HUMAN			14	2273	+	Hepatocellular(33;0.183)		663					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.1988C>T	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	c	9.198	1.027716	0.19512	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71341	-0.56;-0.56	5.81	4.93	0.64822	.	0.379540	0.31784	N	0.007068	T	0.42675	0.1213	N	0.04508	-0.205	0.21579	N	0.999634	B	0.10296	0.003	B	0.04013	0.001	T	0.24799	-1.0150	10	0.10636	T	0.68	-15.8436	7.646	0.28321	0.1654:0.7506:0.0:0.084	.	663	O76039	CDKL5_HUMAN	L	663	ENSP00000369332:S663L;ENSP00000369325:S663L	ENSP00000369325:S663L	S	+	2	0	CDKL5	18536895	0.981000	0.34729	0.114000	0.21550	0.303000	0.27691	2.517000	0.45529	1.184000	0.42957	0.519000	0.50382	TCG		0.438	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		4	41	0	0	0	1	0	4	41					T	18626974	C	T	18626974	3	4	48	1	0	0	0	0	1	0	0	0	3159	893	31	1	2034	1	CDKL5	23	18626974	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4236	18626974	136643586	4408	8876										
CDKL5	6792	broad.mit.edu	37	chrX	18638065	18638065	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttttcaggtcaatgaaaaaGaaaaagaagaaatctcaaac	6	5	3	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:18638065G>T	ENST00000379989.3	+	17	2640	c.2355G>T	c.(2353-2355)aaG>aaT	p.K785N	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.K785N	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	785	Poly-Lys.				neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CAATGAAAAAGAAAAAGAAGA	0.308																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(2353-2355)aaG>aaT		cyclin-dependent kinase-like 5							29	29	29					X																	18638065		2199	4289	6488	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18638065G>T	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2355G>T	X.37:g.18638065G>T	ENSP00000369325:p.Lys785Asn		Somatic				CDKL5_ENST00000379996.3_Missense_Mutation_p.K785N|CDKL5_ENST00000463994.1_3'UTR	p.K785N	NM_001037343.1	NP_001032420.1	WXS	Illumina GAIIx	Phase_I	O76039	CDKL5_HUMAN			17	2640	+	Hepatocellular(33;0.183)		785			Poly-Lys.		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2355G>T	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553987	0.65425	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.79845	-1.31;-1.31	5.63	4.77	0.60923	.	0.040612	0.85682	D	0.000000	T	0.81293	0.4792	L	0.34521	1.04	0.37143	D	0.901805	D	0.71674	0.998	P	0.57425	0.82	D	0.85359	0.1106	10	0.87932	D	0	-16.1475	12.8537	0.57873	0.0803:0.0:0.9197:0.0	.	785	O76039	CDKL5_HUMAN	N	785	ENSP00000369332:K785N;ENSP00000369325:K785N	ENSP00000369325:K785N	K	+	3	2	CDKL5	18547986	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.918000	0.69996	1.250000	0.43966	0.600000	0.82982	AAG		0.308	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		7	8	1	0	8.12818e-05	1	8.79784e-05	7	8					T	18638065	G	T	18638065	3	4	48	1	0	0	0	0	1	0	0	0	3159	933	33	2	2413	2	CDKL5	23	18638065	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	11091	18638065	136632495	4409	8877										
GPR64	10149	broad.mit.edu	37	chrX	19009003	19009003	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacatttgctcaataaagtgTaagcttccccgctttgaagt	7	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19009003T>C	ENST00000379869.3	-	29	3196	c.3033A>G	c.(3031-3033)ttA>ttG	p.L1011L	GPR64_ENST00000379878.3_Silent_p.L995L|GPR64_ENST00000357544.3_Silent_p.L981L|GPR64_ENST00000340581.3_Silent_p.L892L|GPR64_ENST00000356606.4_Silent_p.L997L|GPR64_ENST00000379876.1_Silent_p.L987L|GPR64_ENST00000354791.3_Silent_p.L995L|GPR64_ENST00000379873.2_Silent_p.L960L|GPR64_ENST00000357991.3_Silent_p.L1008L|GPR64_ENST00000360279.4_Silent_p.L989L	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	1011					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)					CAATAAAGTGTAAGCTTCCCC	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.(2983-2985)ttA>ttG		G protein-coupled receptor 64							157	139	145					X																	19009003		2203	4300	6503	SO:0001819	synonymous_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19009003T>C	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.3033A>G	X.37:g.19009003T>C			Somatic				GPR64_ENST00000379876.1_Silent_p.L987L|GPR64_ENST00000356606.4_Silent_p.L997L|GPR64_ENST00000379873.2_Silent_p.L960L|GPR64_ENST00000357544.3_Silent_p.L981L|GPR64_ENST00000360279.4_Silent_p.L989L|GPR64_ENST00000357991.3_Silent_p.L1008L|GPR64_ENST00000354791.3_Silent_p.L995L|GPR64_ENST00000340581.3_Silent_p.L892L|GPR64_ENST00000379869.3_Silent_p.L1011L	p.L995L	NM_001184833.1	NP_001171762.1	WXS	Illumina GAIIx	Phase_I	Q8IZP9	GPR64_HUMAN			28	3226	-	Hepatocellular(33;0.183)		1011					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	ENST00000379869.3	37	c.2985A>G	CCDS43923.1																																																																																				0.398	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			38	62	0	0	0	1	0	38	62					C	19009003	T	C	19009003	2	2	48	1	0	0	0	0	0	0	0	1	6713	1635	57	4		4	GPR64	23	19009003	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	370938	19009003	136261557	4410	8878										
GPR64	10149	broad.mit.edu	37	chrX	19032031	19032031	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccctattggagagggaacaTtgtgggtcacaggtgaataa	13	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19032031T>G	ENST00000379869.3	-	16	1035	c.872A>C	c.(871-873)aAt>aCt	p.N291T	GPR64_ENST00000379878.3_Missense_Mutation_p.N275T|GPR64_ENST00000357544.3_Missense_Mutation_p.N261T|GPR64_ENST00000340581.3_Missense_Mutation_p.N261T|GPR64_ENST00000356606.4_Missense_Mutation_p.N277T|GPR64_ENST00000379876.1_Missense_Mutation_p.N267T|GPR64_ENST00000354791.3_Missense_Mutation_p.N275T|GPR64_ENST00000379873.2_Missense_Mutation_p.N291T|GPR64_ENST00000357991.3_Missense_Mutation_p.N288T|GPR64_ENST00000360279.4_Missense_Mutation_p.N269T	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	291					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)					AGAGGGAACATTGTGGGTCAC	0.557																																						ENST00000379878.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(823-825)aAt>aCt		G protein-coupled receptor 64							126	121	123					X																	19032031		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19032031T>G	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.872A>C	X.37:g.19032031T>G	ENSP00000369198:p.Asn291Thr		Somatic				GPR64_ENST00000379876.1_Missense_Mutation_p.N267T|GPR64_ENST00000356606.4_Missense_Mutation_p.N277T|GPR64_ENST00000379873.2_Missense_Mutation_p.N291T|GPR64_ENST00000357544.3_Missense_Mutation_p.N261T|GPR64_ENST00000360279.4_Missense_Mutation_p.N269T|GPR64_ENST00000357991.3_Missense_Mutation_p.N288T|GPR64_ENST00000354791.3_Missense_Mutation_p.N275T|GPR64_ENST00000340581.3_Missense_Mutation_p.N261T|GPR64_ENST00000379869.3_Missense_Mutation_p.N291T	p.N275T	NM_001184833.1	NP_001171762.1	WXS	Illumina GAIIx	Phase_I	Q8IZP9	GPR64_HUMAN			15	1065	-	Hepatocellular(33;0.183)		291					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.824A>C	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	T	9.418	1.082283	0.20309	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.32272	1.5;1.61;1.61;1.61;1.6;1.65;1.61;1.65;1.65;1.46	5.36	-0.0717	0.13742	.	1.840750	0.02435	N	0.084012	T	0.14270	0.0345	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.22909	0.012;0.001;0.071;0.002;0.002;0.077;0.071;0.071;0.071;0.001;0.025	B;B;B;B;B;B;B;B;B;B;B	0.25614	0.007;0.009;0.062;0.009;0.009;0.062;0.062;0.062;0.062;0.004;0.028	T	0.14643	-1.0465	10	0.09084	T	0.74	.	3.0389	0.06132	0.2477:0.3419:0.0:0.4104	.	261;253;261;267;275;291;269;277;288;291;275	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	T	291;275;275;267;261;291;269;288;277;261	ENSP00000369202:N291T;ENSP00000369207:N275T;ENSP00000346845:N275T;ENSP00000369205:N267T;ENSP00000350152:N261T;ENSP00000369198:N291T;ENSP00000353421:N269T;ENSP00000350680:N288T;ENSP00000349015:N277T;ENSP00000344972:N261T	ENSP00000344972:N261T	N	-	2	0	GPR64	18941952	0.003000	0.15002	0.000000	0.03702	0.035000	0.12851	-0.039000	0.12124	0.066000	0.16515	0.356000	0.21956	AAT		0.557	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			75	114	0	0	0	1	0	75	114					G	19032031	T	G	19032031	3	3	48	1	0	0	0	0	1	0	0	0	6713	1493	52	4	2237	4	GPR64	23	19032031	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	23028	19032031	136238529	4411	8879										
MAP3K15	389840	broad.mit.edu	37	chrX	19379463	19379463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttgaggctcttaccgtagtCgaaggtatcttagatcttcc	9	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19379463C>T	ENST00000338883.4	-	28	3850	c.3851G>A	c.(3850-3852)cGa>cAa	p.R1284Q	MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000540249.1_3'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.R719Q|PDHA1_ENST00000379806.5_3'UTR|PDHA1_ENST00000422285.2_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R1116Q|PDHA1_ENST00000545074.1_3'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1284							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TTACCGTAGTCGAAGGTATCT	0.393																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3850-3852)cGa>cAa		mitogen-activated protein kinase kinase kinase 15							54	46	49					X																	19379463		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19379463C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3851G>A	X.37:g.19379463C>T	ENSP00000345629:p.Arg1284Gln		Somatic				PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R1116Q|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.R719Q|PDHA1_ENST00000540249.1_3'UTR	p.R1284Q	NM_001001671.3	NP_001001671.3	WXS	Illumina GAIIx	Phase_I	Q6ZN16	M3K15_HUMAN			28	3850	-	Hepatocellular(33;0.183)		1284					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.3851G>A		.	.	.	.	.	.	.	.	.	.	C	10.50	1.368766	0.24771	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	D;D;D	0.88277	-2.36;-2.36;-2.36	5.91	0.0793	0.14415	Sterile alpha motif/pointed domain (1);	0.293705	0.24134	U	0.041229	T	0.81522	0.4840	L	0.55103	1.725	0.09310	N	0.999998	P;B	0.34892	0.474;0.074	B;B	0.30105	0.111;0.008	T	0.68135	-0.5489	10	0.33141	T	0.24	.	6.9936	0.24769	0.0:0.4721:0.109:0.4189	.	759;1284	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	Q	1284;719;1116	ENSP00000345629:R1284Q;ENSP00000352093:R719Q;ENSP00000428356:R1116Q	ENSP00000345629:R1284Q	R	-	2	0	MAP3K15	19289384	0.000000	0.05858	0.000000	0.03702	0.577000	0.36160	-0.040000	0.12104	-0.480000	0.06803	-0.192000	0.12808	CGA		0.393	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		10	22	0	0	0	1	0	10	22					T	19379463	C	T	19379463	3	4	48	1	0	0	0	0	1	0	0	0	9258	884	31	1	98	1	MAP3K15	23	19379463	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	347432	19379463	135891097	4412	8880										
SH3KBP1	30011	broad.mit.edu	37	chrX	19560162	19560162	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttggttttccttccgtgccGaacagagacggggagttggc	14	9	0	1	rs199710100		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19560162G>A	ENST00000397821.3	-	16	2063	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F	SH3KBP1_ENST00000379716.1_Silent_p.F353F|SH3KBP1_ENST00000541422.1_Silent_p.F330F|SH3KBP1_ENST00000379698.4_Silent_p.F554F	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	591					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CTTCCGTGCCGAACAGAGACG	0.647													G|||	2	0.000529801	0	0.0014	3775	,	,		13137	0		0.001	False		,,,				2504	0					ENST00000397821.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.(1771-1773)ttC>ttT		SH3-domain kinase binding protein 1							84	80	81					X																	19560162		2203	4300	6503	SO:0001819	synonymous_variant	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19560162G>A	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1773C>T	X.37:g.19560162G>A			Somatic				SH3KBP1_ENST00000379698.4_Silent_p.F554F|SH3KBP1_ENST00000541422.1_Silent_p.F330F|SH3KBP1_ENST00000379716.1_Silent_p.F353F	p.F591F	NM_031892.2	NP_114098.1	WXS	Illumina GAIIx	Phase_I	Q96B97	SH3K1_HUMAN			16	2063	-			591					B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Silent	SNP	ENST00000397821.3	37	c.1773C>T	CCDS14193.1																																																																																				0.647	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		23	104	0	0	0	1	0	23	104					A	19560162	G	A	19560162	2	1	48	1	0	0	0	0	0	0	0	1	14270	1049	37	1		1	SH3KBP1	23	19560162	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	180699	19560162	135710398	4413	8881										
SH3KBP1	30011	broad.mit.edu	37	chrX	19725022	19725022	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcctaccacctctatgatgtCgccaactttcagctcaagtt	5	14	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19725022C>T	ENST00000397821.3	-	4	657	c.367G>A	c.(367-369)Gac>Aac	p.D123N	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.D86N|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.D123N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	123	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TCTATGATGTCGCCAACTTTC	0.572																																						ENST00000397821.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.(367-369)Gac>Aac		SH3-domain kinase binding protein 1							88	72	77					X																	19725022		2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19725022C>T	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.367G>A	X.37:g.19725022C>T	ENSP00000380921:p.Asp123Asn		Somatic				SH3KBP1_ENST00000379697.3_Missense_Mutation_p.D123N|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.D86N	p.D123N	NM_031892.2	NP_114098.1	WXS	Illumina GAIIx	Phase_I	Q96B97	SH3K1_HUMAN			4	657	-			123			SH3 2.		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.367G>A	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	c	25.7	4.669717	0.88348	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.92	5.04	0.67666	Src homology-3 domain (3);Variant SH3 (1);	0.430070	0.28312	N	0.015805	T	0.81955	0.4932	M	0.93016	3.37	0.80722	D	1	D;D	0.54772	0.968;0.967	P;P	0.61397	0.888;0.531	D	0.86112	0.1563	10	0.87932	D	0	-15.7338	14.2413	0.65959	0.1503:0.8497:0.0:0.0	.	123;86	Q96B97;Q5JPT5	SH3K1_HUMAN;.	N	64;123;31;86;59;123;70;31	ENSP00000380921:D123N;ENSP00000369020:D86N;ENSP00000369049:D59N;ENSP00000369019:D123N;ENSP00000388766:D70N;ENSP00000409292:D31N	ENSP00000369019:D123N	D	-	1	0	SH3KBP1	19634943	0.999000	0.42202	0.920000	0.36463	0.985000	0.73830	4.554000	0.60760	1.212000	0.43366	0.597000	0.82753	GAC		0.572	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		17	40	0	0	0	1	0	17	40					T	19725022	C	T	19725022	3	4	48	1	0	0	0	0	1	0	0	0	14270	884	31	1	1706	1	SH3KBP1	23	19725022	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	164860	19725022	135545538	4414	8882										
CXorf23	256643	broad.mit.edu	37	chrX	19947913	19947913	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcaactaaccttcttttttCtcattaatctttctctgaac	1	11	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19947913C>A	ENST00000379682.4	-	10	2129	c.2096G>T	c.(2095-2097)aGa>aTa	p.R699I	CXorf23_ENST00000356980.3_3'UTR|CXorf23_ENST00000379687.3_Missense_Mutation_p.R670I			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	699						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						CTTCTTTTTTCTCATTAATCT	0.323																																						ENST00000379687.3																			0				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						c.(2008-2010)aGa>aTa		chromosome X open reading frame 23							82	84	83					X																	19947913		2203	4300	6503	SO:0001583	missense	256643					mitochondrion		g.chrX:19947913C>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.2096G>T	X.37:g.19947913C>A	ENSP00000369004:p.Arg699Ile		Somatic				CXorf23_ENST00000466702.1_5'UTR|CXorf23_ENST00000356980.3_3'UTR|CXorf23_ENST00000379682.4_Missense_Mutation_p.R699I	p.R670I	NM_198279.3	NP_938020.2	WXS	Illumina GAIIx	Phase_I	A2AJT9	CX023_HUMAN			10	2042	-			699					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37	c.2009G>T		.	.	.	.	.	.	.	.	.	.	C	21.5	4.159741	0.78226	.	.	ENSG00000173681	ENST00000379687;ENST00000379682	T;T	0.56941	0.43;0.58	5.52	4.65	0.58169	.	.	.	.	.	T	0.57917	0.2086	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.72075	0.976;0.847	T	0.54768	-0.8244	8	.	.	.	.	12.2395	0.54534	0.0:0.9177:0.0:0.0823	.	670;699	A2AJT9-2;A2AJT9	.;CX023_HUMAN	I	670;699	ENSP00000369009:R670I;ENSP00000369004:R699I	.	R	-	2	0	CXorf23	19857834	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	1.549000	0.36212	2.320000	0.78422	0.600000	0.82982	AGA		0.323	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		37	72	1	0	3.6622e-26	1	5.17531e-26	37	72					A	19947913	C	A	19947913	3	1	48	1	0	0	0	0	1	0	0	0	4105	913	32	2	47	2	CXorf23	23	19947913	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	222891	19947913	135322647	4415	8883										
MAP7D2	256714	broad.mit.edu	37	chrX	20043155	20043155	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcttttcagccaagatcttCgcagcctctcctgcatcagt	6	15	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:20043155C>T	ENST00000379651.3	-	9	1221	c.1203G>A	c.(1201-1203)gcG>gcA	p.A401A	MAP7D2_ENST00000379643.5_Silent_p.A442A|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000452324.3_Silent_p.A349A|MAP7D2_ENST00000543767.1_Silent_p.A286A|MAP7D2_ENST00000443379.3_Silent_p.A356A	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	401					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						CCAAGATCTTCGCAGCCTCTC	0.522																																						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.(1201-1203)gcG>gcA		MAP7 domain containing 2							173	144	154					X																	20043155		2203	4300	6503	SO:0001819	synonymous_variant	256714							g.chrX:20043155C>T	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1203G>A	X.37:g.20043155C>T			Somatic				MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000543767.1_Silent_p.A286A|MAP7D2_ENST00000452324.3_Silent_p.A349A|MAP7D2_ENST00000443379.3_Silent_p.A356A|MAP7D2_ENST00000379643.5_Silent_p.A442A	p.A401A	NM_152780.3	NP_689993.2	WXS	Illumina GAIIx	Phase_I	Q96T17	MA7D2_HUMAN			9	1221	-			401					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	ENST00000379651.3	37	c.1203G>A	CCDS14195.1																																																																																				0.522	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		52	93	0	0	0	1	0	52	93					T	20043155	C	T	20043155	2	4	48	1	0	0	0	0	0	0	0	1	9277	871	31	1		1	MAP7D2	23	20043155	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	95242	20043155	135227405	4416	8884										
MAP7D2	256714	broad.mit.edu	37	chrX	20060638	20060638	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acttggatatcacaggagaaGatggtctcttaggaatgcct	11	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:20060638G>T	ENST00000379651.3	-	7	884	c.866C>A	c.(865-867)tCt>tAt	p.S289Y	MAP7D2_ENST00000379643.5_Missense_Mutation_p.S330Y|MAP7D2_ENST00000452324.3_Missense_Mutation_p.S237Y|MAP7D2_ENST00000543767.1_Missense_Mutation_p.S174Y|MAP7D2_ENST00000443379.3_Missense_Mutation_p.S244Y	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	289					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						CACAGGAGAAGATGGTCTCTT	0.502																																						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.(865-867)tCt>tAt		MAP7 domain containing 2							163	143	149					X																	20060638		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20060638G>T	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.866C>A	X.37:g.20060638G>T	ENSP00000368972:p.Ser289Tyr		Somatic				MAP7D2_ENST00000543767.1_Missense_Mutation_p.S174Y|MAP7D2_ENST00000452324.3_Missense_Mutation_p.S237Y|MAP7D2_ENST00000443379.3_Missense_Mutation_p.S244Y|MAP7D2_ENST00000379643.5_Missense_Mutation_p.S330Y	p.S289Y	NM_152780.3	NP_689993.2	WXS	Illumina GAIIx	Phase_I	Q96T17	MA7D2_HUMAN			7	884	-			289					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.866C>A	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	8.906	0.957620	0.18507	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324	T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42	5.43	4.54	0.55810	.	0.079472	0.53938	D	0.000053	T	0.09555	0.0235	M	0.68952	2.095	0.34507	D	0.706715	B;B;B;B;B	0.33318	0.286;0.408;0.408;0.286;0.408	B;B;B;B;B	0.31101	0.058;0.124;0.124;0.058;0.124	T	0.07654	-1.0761	10	0.66056	D	0.02	-7.3464	12.2505	0.54595	0.0:0.0:0.829:0.171	.	244;237;330;289;174	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	Y	289;330;174;244;237	ENSP00000368972:S289Y;ENSP00000368964:S330Y;ENSP00000440691:S174Y;ENSP00000388239:S244Y;ENSP00000413301:S237Y	ENSP00000368964:S330Y	S	-	2	0	MAP7D2	19970559	1.000000	0.71417	0.523000	0.27875	0.106000	0.19336	6.129000	0.71657	1.118000	0.41863	0.600000	0.82982	TCT		0.502	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		84	147	1	0	3.49902e-48	1	5.0748e-48	84	147					T	20060638	G	T	20060638	3	4	48	1	0	0	0	0	1	0	0	0	9277	942	33	2	1368	2	MAP7D2	23	20060638	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	17483	20060638	135209922	4417	8885										
SMS	6611	broad.mit.edu	37	chrX	22003283	22003283	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttccacatgggagtttctcaGactgattcttgacctctcaa	7	11	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:22003283G>A	ENST00000404933.2	+	9	1139	c.887G>A	c.(886-888)aGa>aAa	p.R296K	SMS_ENST00000379404.1_Missense_Mutation_p.R243K|SMS_ENST00000415881.2_Missense_Mutation_p.R200K	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	296	PABS. {ECO:0000255|PROSITE- ProRule:PRU00354}.				cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	GAGTTTCTCAGACTGATTCTT	0.348																																						ENST00000404933.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14						c.(886-888)aGa>aAa		spermine synthase	Spermine(DB00127)						88	84	85					X																	22003283		2203	4300	6503	SO:0001583	missense	6611				methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity	g.chrX:22003283G>A	AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"Snyder-Robinson X-linked mental retardation syndrome"	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.887G>A	X.37:g.22003283G>A	ENSP00000385746:p.Arg296Lys		Somatic				SMS_ENST00000415881.2_Missense_Mutation_p.R200K|SMS_ENST00000379404.1_Missense_Mutation_p.R243K	p.R296K	NM_004595.4	NP_004586.2	WXS	Illumina GAIIx	Phase_I	P52788	SPSY_HUMAN			9	1139	+			296					A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Missense_Mutation	SNP	ENST00000404933.2	37	c.887G>A	CCDS14203.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689239	0.68271	.	.	ENSG00000102172	ENST00000404933;ENST00000379404;ENST00000415881	T;T;T	0.75821	-0.97;-0.97;-0.97	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.78065	0.4225	L	0.31120	0.905	0.58432	D	0.999996	D	0.60160	0.987	D	0.74674	0.984	T	0.72443	-0.4292	10	0.11485	T	0.65	-15.8733	18.1865	0.89795	0.0:0.0:1.0:0.0	.	296	P52788	SPSY_HUMAN	K	296;243;200	ENSP00000385746:R296K;ENSP00000368714:R243K;ENSP00000388906:R200K	ENSP00000368714:R243K	R	+	2	0	SMS	21913204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.259000	0.78381	2.232000	0.73038	0.600000	0.82982	AGA		0.348	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056032.1	NM_004595		14	35	0	0	0	1	0	14	35					A	22003283	G	A	22003283	3	1	48	1	0	0	0	0	1	0	0	0	14828	942	33	3	921	3	SMS	23	22003283	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1942645	22003283	133267277	4418	8886										
ZNF645	158506	broad.mit.edu	37	chrX	22291306	22291306	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgatttgcctattaaaatCtatgggcgaataattccgtg	9	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:22291306C>A	ENST00000323684.1	+	1	242	c.198C>A	c.(196-198)atC>atA	p.I66I		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	66					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CTATTAAAATCTATGGGCGAA	0.383																																						ENST00000323684.1																			0				cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(196-198)atC>atA		zinc finger protein 645							70	65	66					X																	22291306		2203	4300	6503	SO:0001819	synonymous_variant	158506					intracellular	zinc ion binding	g.chrX:22291306C>A	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.198C>A	X.37:g.22291306C>A			Somatic					p.I66I	NM_152577.3	NP_689790.1	WXS	Illumina GAIIx	Phase_I	Q8N7E2	ZN645_HUMAN			1	242	+			66					A0AV29|A0AV31|E3SBK4|Q6DJY9	Silent	SNP	ENST00000323684.1	37	c.198C>A	CCDS14205.1																																																																																				0.383	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		29	56	1	0	4.87955e-14	1	6.31333e-14	29	56					A	22291306	C	A	22291306	2	1	48	1	0	0	0	0	0	0	0	1	18076	903	32	2		2	ZNF645	23	22291306	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	288023	22291306	132979254	4419	8887										
PTCHD1	139411	broad.mit.edu	37	chrX	23397857	23397857	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagaatgctcgggccaccaaTcggaccaattttgctatcac	8	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:23397857T>C	ENST00000379361.4	+	2	1361	c.501T>C	c.(499-501)aaT>aaC	p.N167N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	167					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GGGCCACCAATCGGACCAATT	0.488																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(499-501)aaT>aaC		patched domain containing 1							100	86	91					X																	23397857		2203	4300	6503	SO:0001819	synonymous_variant	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23397857T>C	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.501T>C	X.37:g.23397857T>C			Somatic					p.N167N	NM_173495.2	NP_775766.2	WXS	Illumina GAIIx	Phase_I	Q96NR3	PTHD1_HUMAN			2	1361	+			167					B4DQH0|Q0IJ60|Q6P6B8	Silent	SNP	ENST00000379361.4	37	c.501T>C	CCDS35215.2																																																																																				0.488	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		27	132	0	0	0	1	0	27	132					C	23397857	T	C	23397857	2	2	48	1	0	0	0	0	0	0	0	1	12744	1432	50	4		4	PTCHD1	23	23397857	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1106551	23397857	131872703	4420	8888										
CXorf58	254158	broad.mit.edu	37	chrX	23953371	23953371	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggcagaaataacagctggcGcaaattaaatcttgaaaata	8	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:23953371G>A	ENST00000379211.3	+	7	1163	c.614G>A	c.(613-615)cGc>cAc	p.R205H		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	205										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AACAGCTGGCGCAAATTAAAT	0.418																																						ENST00000379211.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						c.(613-615)cGc>cAc		chromosome X open reading frame 58							97	100	99					X																	23953371		2203	4300	6503	SO:0001583	missense	254158							g.chrX:23953371G>A	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.614G>A	X.37:g.23953371G>A	ENSP00000368511:p.Arg205His		Somatic					p.R205H	NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	WXS	Illumina GAIIx	Phase_I	Q96LI9	CX058_HUMAN			7	1163	+			205						Missense_Mutation	SNP	ENST00000379211.3	37	c.614G>A	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	g	17.15	3.315955	0.60524	.	.	ENSG00000165182	ENST00000379211	T	0.53206	0.63	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000014	T	0.70378	0.3217	M	0.73962	2.25	0.41120	D	0.985801	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73623	-0.3924	10	0.87932	D	0	-18.6997	17.8725	0.88815	0.0:0.0:1.0:0.0	.	205;205	B7ZLS7;Q96LI9	.;CX058_HUMAN	H	205	ENSP00000368511:R205H	ENSP00000368511:R205H	R	+	2	0	CXorf58	23863292	1.000000	0.71417	0.997000	0.53966	0.072000	0.16883	4.173000	0.58249	2.496000	0.84212	0.417000	0.27973	CGC		0.418	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		55	87	0	0	0	1	0	55	87					A	23953371	G	A	23953371	3	1	48	1	0	0	0	0	1	0	0	0	4116	1087	38	1	636	1	CXorf58	23	23953371	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	555514	23953371	131317189	4421	8889										
KLHL15	80311	broad.mit.edu	37	chrX	24006621	24006621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catatttgttaactggataaGgatccacaaattcccattta	5	8	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:24006621G>A	ENST00000328046.8	-	4	1487	c.1232C>T	c.(1231-1233)cCt>cTt	p.P411L		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	411					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						AACTGGATAAGGATCCACAAA	0.428																																						ENST00000328046.8																			0				autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						c.(1231-1233)cCt>cTt		kelch-like family member 15							180	147	158					X																	24006621		2203	4300	6503	SO:0001583	missense	80311							g.chrX:24006621G>A	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.1232C>T	X.37:g.24006621G>A	ENSP00000332791:p.Pro411Leu		Somatic					p.P411L	NM_030624.2	NP_085127.2	WXS	Illumina GAIIx	Phase_I	Q96M94	KLH15_HUMAN			4	1487	-			411					Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	c.1232C>T	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405772	0.62288	.	.	ENSG00000174010	ENST00000328046	T	0.69806	-0.43	5.49	5.49	0.81192	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.86335	0.5908	H	0.94423	3.535	0.80722	D	1	D	0.63046	0.992	D	0.63033	0.91	D	0.90238	0.4284	10	0.87932	D	0	.	18.6167	0.91305	0.0:0.0:1.0:0.0	.	411	Q96M94	KLH15_HUMAN	L	411	ENSP00000332791:P411L	ENSP00000332791:P411L	P	-	2	0	KLHL15	23916542	1.000000	0.71417	0.992000	0.48379	0.960000	0.62799	9.226000	0.95229	2.426000	0.82243	0.506000	0.49869	CCT		0.428	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		44	68	0	0	0	1	0	44	68					A	24006621	G	A	24006621	3	1	48	1	0	0	0	0	1	0	0	0	8380	1000	35	3	586	3	KLHL15	23	24006621	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	53250	24006621	131263939	4422	8890										
KLHL15	80311	broad.mit.edu	37	chrX	24024277	24024277	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccaagtaagacatgagcttCtcaaagctcagataggacag	9	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:24024277C>A	ENST00000328046.8	-	3	789	c.534G>T	c.(532-534)gaG>gaT	p.E178D		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	178	BACK.				protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						ACATGAGCTTCTCAAAGCTCA	0.478																																						ENST00000328046.8																			0				autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						c.(532-534)gaG>gaT		kelch-like family member 15							140	111	121					X																	24024277		2203	4300	6503	SO:0001583	missense	80311							g.chrX:24024277C>A	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.534G>T	X.37:g.24024277C>A	ENSP00000332791:p.Glu178Asp		Somatic					p.E178D	NM_030624.2	NP_085127.2	WXS	Illumina GAIIx	Phase_I	Q96M94	KLH15_HUMAN			3	789	-			178			BACK.		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	c.534G>T	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181585	0.38511	.	.	ENSG00000174010	ENST00000328046	T	0.69685	-0.42	5.3	2.1	0.27182	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	N	0.20574	0.59	0.46798	D	0.999203	B	0.25563	0.129	B	0.26517	0.07	T	0.37641	-0.9697	10	0.40728	T	0.16	.	10.5513	0.45090	0.0:0.62:0.0:0.38	.	178	Q96M94	KLH15_HUMAN	D	178	ENSP00000332791:E178D	ENSP00000332791:E178D	E	-	3	2	KLHL15	23934198	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.996000	0.29719	0.443000	0.26582	-0.268000	0.10319	GAG		0.478	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		44	76	1	0	1.15183e-24	1	1.61878e-24	44	76					A	24024277	C	A	24024277	3	1	48	1	0	0	0	0	1	0	0	0	8380	912	32	2	1288	2	KLHL15	23	24024277	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	17656	24024277	131246283	4423	8891										
ZFX	7543	broad.mit.edu	37	chrX	24228960	24228960	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacatgctcttatccaccaaGaaagcaaaacacaccagtgt	5	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:24228960G>T	ENST00000379177.1	+	11	2312	c.1885G>T	c.(1885-1887)Gaa>Taa	p.E629*	ZFX_ENST00000540034.1_Nonsense_Mutation_p.E668*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.E629*|ZFX_ENST00000338565.3_Nonsense_Mutation_p.E579*|ZFX_ENST00000539115.1_Nonsense_Mutation_p.E400*|ZFX_ENST00000379188.3_Nonsense_Mutation_p.E629*	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	629					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						TATCCACCAAGAAAGCAAAAC	0.418																																					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.(1885-1887)Gaa>Taa		zinc finger protein, X-linked							119	99	106					X																	24228960		2203	4300	6503	SO:0001587	stop_gained	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24228960G>T		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.1885G>T	X.37:g.24228960G>T	ENSP00000368475:p.Glu629*		Somatic				ZFX_ENST00000338565.3_Nonsense_Mutation_p.E579*|ZFX_ENST00000540034.1_Nonsense_Mutation_p.E668*|ZFX_ENST00000539115.1_Nonsense_Mutation_p.E400*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.E629*|ZFX_ENST00000379188.3_Nonsense_Mutation_p.E629*	p.E629*	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	WXS	Illumina GAIIx	Phase_I	P17010	ZFX_HUMAN			11	2312	+			629					B9EG97|O43668|Q8WYJ8	Nonsense_Mutation	SNP	ENST00000379177.1	37	c.1885G>T	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	G	38	6.647217	0.97730	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	.	.	.	5.11	4.23	0.50019	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	3.5553	14.9324	0.70926	0.0:0.14:0.86:0.0	.	.	.	.	X	400;629;351;629;629;668;579	.	ENSP00000304985:E629X	E	+	1	0	ZFX	24138881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	1.018000	0.39521	0.594000	0.82650	GAA		0.418	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		32	69	1	0	2.85442e-18	1	3.86477e-18	32	69					T	24228960	G	T	24228960	4	4	48	1	0	0	0	0	0	1	0	0	17676	943	33	2	1970	2	ZFX	23	24228960	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	204683	24228960	131041600	4424	8892										
IL1RAPL1	11141	broad.mit.edu	37	chrX	29414549	29414549	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccaaccagagaacctgaaatCctttggtacaaggtatggac	9	10	0	2	rs372833369		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:29414549C>A	ENST00000378993.1	+	4	1210	c.537C>A	c.(535-537)atC>atA	p.I179I	IL1RAPL1_ENST00000302196.4_Silent_p.I179I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	179	Ig-like C2-type 2.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AACCTGAAATCCTTTGGTACA	0.378																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(535-537)atC>atA		interleukin 1 receptor accessory protein-like 1		C		2,3831		0,2,1629,571	102	99	100		537	4.4	1	X		100	0,6727		0,0,2428,1871	no	coding-synonymous	IL1RAPL1	NM_014271.3		0,2,4057,2442	AA,AC,CC,C		0.0,0.0522,0.0189		179/697	29414549	2,10558	2202	4299	6501	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29414549C>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.537C>A	X.37:g.29414549C>A			Somatic				IL1RAPL1_ENST00000302196.4_Silent_p.I179I	p.I179I	NM_014271.3	NP_055086.1	WXS	Illumina GAIIx	Phase_I	Q9NZN1	IRPL1_HUMAN			4	1210	+			179			Ig-like C2-type 2.		A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.537C>A	CCDS14218.1																																																																																				0.378	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		28	79	1	0	1.88708e-17	1	2.5355e-17	28	79					A	29414549	C	A	29414549	2	1	48	1	0	0	0	0	0	0	0	1	7670	845	30	2		2	IL1RAPL1	23	29414549	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5185589	29414549	125856011	4425	8893										
IL1RAPL1	11141	broad.mit.edu	37	chrX	29938105	29938105	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggggaacaggaagtttccatCtcattaattgtggactctgt	11	7	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:29938105C>A	ENST00000378993.1	+	8	1624	c.951C>A	c.(949-951)atC>atA	p.I317I	IL1RAPL1_ENST00000302196.4_Silent_p.I317I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	317	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AAGTTTCCATCTCATTAATTG	0.393																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(949-951)atC>atA		interleukin 1 receptor accessory protein-like 1							211	178	189					X																	29938105		2202	4300	6502	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29938105C>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.951C>A	X.37:g.29938105C>A			Somatic				IL1RAPL1_ENST00000302196.4_Silent_p.I317I	p.I317I	NM_014271.3	NP_055086.1	WXS	Illumina GAIIx	Phase_I	Q9NZN1	IRPL1_HUMAN			8	1624	+			317			Ig-like C2-type 3.		A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.951C>A	CCDS14218.1																																																																																				0.393	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		33	54	1	0	1.30998e-17	1	1.76095e-17	33	54					A	29938105	C	A	29938105	2	1	48	1	0	0	0	0	0	0	0	1	7670	903	32	2		2	IL1RAPL1	23	29938105	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	523556	29938105	125332455	4426	8894										
IL1RAPL1	11141	broad.mit.edu	37	chrX	29959904	29959904	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cattttggagctgaagagctCgatggaggtaggatgttacc	14	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:29959904C>T	ENST00000378993.1	+	9	1867	c.1194C>T	c.(1192-1194)ctC>ctT	p.L398L	IL1RAPL1_ENST00000302196.4_Silent_p.L398L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	398					calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CTGAAGAGCTCGATGGAGGTA	0.358																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1192-1194)ctC>ctT		interleukin 1 receptor accessory protein-like 1							153	124	134					X																	29959904		2202	4300	6502	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29959904C>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1194C>T	X.37:g.29959904C>T			Somatic				IL1RAPL1_ENST00000302196.4_Silent_p.L398L	p.L398L	NM_014271.3	NP_055086.1	WXS	Illumina GAIIx	Phase_I	Q9NZN1	IRPL1_HUMAN			9	1867	+			398					A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.1194C>T	CCDS14218.1																																																																																				0.358	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		18	49	0	0	0	1	0	18	49					T	29959904	C	T	29959904	2	4	48	1	0	0	0	0	0	0	0	1	7670	871	31	1		1	IL1RAPL1	23	29959904	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	21799	29959904	125310656	4427	8895										
MAGEB3	4114	broad.mit.edu	37	chrX	30254099	30254099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaaacgccagcagacccggGgtcagacccaggatcaccag	12	14	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:30254099G>T	ENST00000361644.2	+	5	795	c.58G>T	c.(58-60)Ggt>Tgt	p.G20C		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	20										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GCAGACCCGGGGTCAGACCCA	0.517																																						ENST00000361644.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						c.(58-60)Ggt>Tgt		melanoma antigen family B, 3							65	55	58					X																	30254099		2202	4300	6502	SO:0001583	missense	4114							g.chrX:30254099G>T	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 5"	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.58G>T	X.37:g.30254099G>T	ENSP00000355198:p.Gly20Cys		Somatic				MAGEB3_ENST00000378986.1_Missense_Mutation_p.G20C	p.G20C	NM_002365.4	NP_002356.2	WXS	Illumina GAIIx	Phase_I	O15480	MAGB3_HUMAN			5	795	+			20					A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	c.58G>T	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674176	0.29693	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.05081	3.5;3.5	3.98	-0.894	0.10563	Melanoma associated antigen, MAGE, N-terminal (1);	3.409840	0.01942	U	0.041991	T	0.14313	0.0346	L	0.41356	1.27	0.09310	N	1	D	0.71674	0.998	D	0.65443	0.935	T	0.13737	-1.0498	10	0.48119	T	0.1	.	4.1299	0.10144	0.4369:0.1743:0.3887:0.0	.	20	O15480	MAGB3_HUMAN	C	20	ENSP00000368271:G20C;ENSP00000355198:G20C	ENSP00000355198:G20C	G	+	1	0	MAGEB3	30164020	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.030000	0.13688	-0.372000	0.07992	-0.281000	0.10026	GGT		0.517	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		15	49	1	0	2.32078e-09	1	2.7896e-09	15	49					T	30254099	G	T	30254099	3	4	48	1	0	0	0	0	1	0	0	0	9186	1232	43	5	60	5	MAGEB3	23	30254099	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	294195	30254099	125016461	4428	8896										
GK	2710	broad.mit.edu	37	chrX	30709251	30709251	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtctatagtgtggcttgatCtaagaacccagtctaccgtt	10	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:30709251C>A	ENST00000378943.3	+	5	528	c.349C>A	c.(349-351)Cta>Ata	p.L117I	GK_ENST00000427190.1_5'UTR|GK_ENST00000378946.3_Missense_Mutation_p.L117I|GK_ENST00000378945.3_Missense_Mutation_p.L117I	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	117					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						GTGGCTTGATCTAAGAACCCA	0.289																																						ENST00000378943.3																			0				central_nervous_system(1)|large_intestine(3)	4						c.(349-351)Cta>Ata		glycerol kinase							53	56	55					X																	30709251		2199	4278	6477	SO:0001583	missense	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30709251C>A	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.349C>A	X.37:g.30709251C>A	ENSP00000368226:p.Leu117Ile		Somatic				GK_ENST00000378945.3_Missense_Mutation_p.L117I|GK_ENST00000427190.1_5'UTR|GK_ENST00000378946.3_Missense_Mutation_p.L117I	p.L117I	NM_001128127.2	NP_001121599.1	WXS	Illumina GAIIx	Phase_I	P32189	GLPK_HUMAN			5	528	+			117					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	ENST00000378943.3	37	c.349C>A	CCDS48090.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061000	0.55432	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000425166	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	L	0.28458	0.855	0.80722	D	1	B;B;B	0.30361	0.125;0.125;0.277	B;B;P	0.44946	0.266;0.266;0.465	T	0.48937	-0.8990	10	0.13853	T	0.58	.	12.5567	0.56257	0.0:0.9226:0.0:0.0774	.	117;117;117	P32189-2;P32189-1;A6NJP5	.;.;.	I	117;117;117;117;36	ENSP00000368229:L117I;ENSP00000368226:L117I;ENSP00000368228:L117I;ENSP00000404682:L36I	ENSP00000368226:L117I	L	+	1	2	GK	30619172	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.223000	0.65283	2.482000	0.83794	0.600000	0.82982	CTA		0.289	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167		20	45	1	0	9.62636e-23	1	1.34149e-22	20	45					A	30709251	C	A	30709251	3	1	48	1	0	0	0	0	1	0	0	0	6428	912	32	2	367	2	GK	23	30709251	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	455152	30709251	124561309	4429	8897										
TAB3	257397	broad.mit.edu	37	chrX	30872825	30872825	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaggactaggtggcataaaGatgtggcccaactgggaagg	16	6	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:30872825G>T	ENST00000378933.1	-	3	1134	c.957C>A	c.(955-957)atC>atA	p.I319I	TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378930.3_Silent_p.I319I|TAB3_ENST00000288422.2_Silent_p.I319I|TAB3_ENST00000378932.2_Silent_p.I319I	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	319	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|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 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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GTGGCATAAAGATGTGGCCCA	0.493																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(955-957)atC>atA		TGF-beta activated kinase 1/MAP3K7 binding protein 3							150	114	126					X																	30872825		2202	4300	6502	SO:0001819	synonymous_variant	257397				activation of MAPK 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|plasma membrane	protein binding|zinc ion binding	g.chrX:30872825G>T	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.957C>A	X.37:g.30872825G>T			Somatic				TAB3_ENST00000378932.2_Silent_p.I319I|TAB3_ENST00000378930.3_Silent_p.I319I|TAB3_ENST00000288422.2_Silent_p.I319I	p.I319I	NM_152787.3	NP_690000.2	WXS	Illumina GAIIx	Phase_I	Q8N5C8	TAB3_HUMAN			3	1134	-			319			Pro-rich.		A6NDD9|Q6VQR0	Silent	SNP	ENST00000378933.1	37	c.957C>A	CCDS14226.1																																																																																				0.493	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		11	49	1	0	3.86212e-05	1	4.21111e-05	11	49					T	30872825	G	T	30872825	2	4	48	1	0	0	0	0	0	0	0	1	15512	932	33	2		2	TAB3	23	30872825	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	163574	30872825	124397735	4430	8898										
FTHL17	53940	broad.mit.edu	37	chrX	31089558	31089558	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccgcccagggtgagcttgtcGaacaggtactcagccaggcc	13	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:31089558G>A	ENST00000359202.3	-	1	612	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	171					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						TGAGCTTGTCGAACAGGTACT	0.632																																						ENST00000359202.3																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						c.(511-513)ttC>ttT		ferritin, heavy polypeptide-like 17							44	41	42					X																	31089558		2202	4300	6502	SO:0001819	synonymous_variant	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089558G>A	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"cancer/testis antigen 38"	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.513C>T	X.37:g.31089558G>A			Somatic					p.F171F	NM_031894.2	NP_114100.1	WXS	Illumina GAIIx	Phase_I	Q9BXU8	FHL17_HUMAN			1	612	-			171					Q6NT24|Q6NTE2	Silent	SNP	ENST00000359202.3	37	c.513C>T	CCDS14227.1																																																																																				0.632	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		24	50	0	0	0	1	0	24	50					A	31089558	G	A	31089558	2	1	48	1	0	0	0	0	0	0	0	1	6091	1049	37	1		1	FTHL17	23	31089558	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	216733	31089558	124181002	4431	8899										
DMD	1756	broad.mit.edu	37	chrX	31947829	31947829	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcatttaattgtttgagaaTtccctggcgcaggggcaact	10	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:31947829T>G	ENST00000357033.4	-	47	7002	c.6796A>C	c.(6796-6798)Att>Ctt	p.I2266L	DMD_ENST00000343523.2_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.I2262L|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2266					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)				TGTTTGAGAATTCCCTGGCGC	0.418																																						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.(6796-6798)Att>Ctt		dystrophin							134	112	120					X																	31947829		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:31947829T>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.6796A>C	X.37:g.31947829T>G	ENSP00000354923:p.Ile2266Leu		Somatic				DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.I2262L	p.I2266L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	WXS	Illumina GAIIx	Phase_I	P11532	DMD_HUMAN			47	7002	-		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)	2266					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6796A>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.862248	0.32884	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.49432	0.78;0.78	5.02	5.02	0.67125	.	0.000000	0.34906	U	0.003596	T	0.40719	0.1128	L	0.51422	1.61	0.80722	D	1	B;B;B;B;B	0.29085	0.194;0.002;0.232;0.026;0.016	B;B;B;B;B	0.30855	0.074;0.007;0.121;0.016;0.018	T	0.26677	-1.0096	10	0.28530	T	0.3	.	9.4999	0.39011	0.1598:0.0:0.0:0.8402	.	2258;2266;2262;925;922	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	L	2258;925;922;2262;2266;2266;2143	ENSP00000367948:I2262L;ENSP00000354923:I2266L	ENSP00000354923:I2266L	I	-	1	0	DMD	31857750	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.074000	0.50065	1.763000	0.52060	0.486000	0.48141	ATT		0.418	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		32	56	0	0	0	1	0	32	56					G	31947829	T	G	31947829	3	3	48	1	0	0	0	0	1	0	0	0	4582	1493	52	4	4541	4	DMD	23	31947829	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	858271	31947829	123322731	4432	8900										
DMD	1756	broad.mit.edu	37	chrX	32404483	32404483	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttactctttcatcaagttCtttgggattttccgtctgct	7	9	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:32404483C>A	ENST00000357033.4	-	33	4824	c.4618G>T	c.(4618-4620)Gaa>Taa	p.E1540*	DMD_ENST00000378677.2_Nonsense_Mutation_p.E1536*	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	1540	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)				TCATCAAGTTCTTTGGGATTT	0.398																																						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.(4618-4620)Gaa>Taa		dystrophin							240	202	214					X																	32404483		2202	4300	6502	SO:0001587	stop_gained	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:32404483C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4618G>T	X.37:g.32404483C>A	ENSP00000354923:p.Glu1540*		Somatic				DMD_ENST00000378677.2_Nonsense_Mutation_p.E1536*	p.E1540*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	WXS	Illumina GAIIx	Phase_I	P11532	DMD_HUMAN			33	4824	-		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)	1540			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.4618G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	46	12.631302	0.99684	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.	.	.	5.97	5.97	0.96955	.	0.000000	0.37530	U	0.002049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	14.8746	0.70485	0.0:0.8611:0.1389:0.0	.	.	.	.	X	1532;199;196;1536;1540;1540;1417	.	ENSP00000354923:E1540X	E	-	1	0	DMD	32314404	1.000000	0.71417	0.965000	0.40720	0.959000	0.62525	4.815000	0.62634	2.527000	0.85204	0.600000	0.82982	GAA		0.398	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		35	67	1	0	6.90743e-12	1	8.65044e-12	35	67					A	32404483	C	A	32404483	4	1	48	1	0	0	0	0	0	1	0	0	4582	922	32	2	6775	2	DMD	23	32404483	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	456654	32404483	122866077	4433	8901										
DMD	1756	broad.mit.edu	37	chrX	32827713	32827713	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggcaaaccacactattccaGtcaaataggtctggcctaaa	7	11	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:32827713G>A	ENST00000357033.4	-	7	752	c.546C>T	c.(544-546)gaC>gaT	p.D182D	DMD_ENST00000288447.4_Silent_p.D174D|DMD_ENST00000378677.2_Silent_p.D178D	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	182	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)				CACTATTCCAGTCAAATAGGT	0.393																																						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.(544-546)gaC>gaT		dystrophin							140	105	117					X																	32827713		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:32827713G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.546C>T	X.37:g.32827713G>A			Somatic				DMD_ENST00000288447.4_Silent_p.D174D|DMD_ENST00000378677.2_Silent_p.D178D	p.D182D	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	WXS	Illumina GAIIx	Phase_I	P11532	DMD_HUMAN			7	752	-		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)	182			Actin-binding.|CH 2.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.546C>T	CCDS14233.1																																																																																				0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		24	38	0	0	0	1	0	24	38					A	32827713	G	A	32827713	2	1	48	1	0	0	0	0	0	0	0	1	4582	1020	36	3		3	DMD	23	32827713	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	423230	32827713	122442847	4434	8902										
FAM47A	158724	broad.mit.edu	37	chrX	34148674	34148674	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttatgtaggatgctcgaatCttgggaggctccgagaattg	13	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:34148674C>A	ENST00000346193.3	-	1	1773	c.1722G>T	c.(1720-1722)aaG>aaT	p.K574N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	574										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						ATGCTCGAATCTTGGGAGGCT	0.512																																						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.(1720-1722)aaG>aaT		family with sequence similarity 47, member A							80	76	77					X																	34148674		2155	4254	6409	SO:0001583	missense	158724							g.chrX:34148674C>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.1722G>T	X.37:g.34148674C>A	ENSP00000345029:p.Lys574Asn		Somatic					p.K574N	NM_203408.3	NP_981953.2	WXS	Illumina GAIIx	Phase_I	Q5JRC9	FA47A_HUMAN			1	1773	-			574					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1722G>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	8.477	0.858811	0.17178	.	.	ENSG00000185448	ENST00000346193	T	0.15718	2.4	0.938	-1.17	0.09648	.	.	.	.	.	T	0.06645	0.0170	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.15484	0.013	T	0.32455	-0.9906	9	0.42905	T	0.14	.	1.6925	0.02855	0.3281:0.4122:0.0:0.2597	.	574	Q5JRC9	FA47A_HUMAN	N	574	ENSP00000345029:K574N	ENSP00000345029:K574N	K	-	3	2	FAM47A	34058595	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.556000	0.02168	-0.618000	0.05656	-0.907000	0.02831	AAG		0.512	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		17	67	1	0	4.7546e-09	1	5.67505e-09	17	67					A	34148674	C	A	34148674	3	1	48	1	0	0	0	0	1	0	0	0	5577	912	32	2	657	2	FAM47A	23	34148674	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1320961	34148674	121121886	4435	8903										
CXorf22	170063	broad.mit.edu	37	chrX	35974224	35974224	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcatcataaaaaatcaatgcGaattacttcctgtgacgtac	6	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:35974224G>T	ENST00000297866.5	+	8	1387	c.1321G>T	c.(1321-1323)Gaa>Taa	p.E441*		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	441								p.E441K(2)		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						AAATCAATGCGAATTACTTCC	0.358																																						ENST00000297866.5																			2	Substitution - Missense(2)	p.E441K(2)	large_intestine(2)	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.(1321-1323)Gaa>Taa		chromosome X open reading frame 22							69	63	65					X																	35974224		2202	4300	6502	SO:0001587	stop_gained	170063							g.chrX:35974224G>T	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.1321G>T	X.37:g.35974224G>T	ENSP00000297866:p.Glu441*		Somatic					p.E441*	NM_152632.3	NP_689845.2	WXS	Illumina GAIIx	Phase_I	Q6ZTR5	CX022_HUMAN			8	1387	+			441					Q5JRM8|Q8N6X8	Nonsense_Mutation	SNP	ENST00000297866.5	37	c.1321G>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882168	0.33255	.	.	ENSG00000165164	ENST00000297866	.	.	.	5.2	-5.28	0.02755	.	1.251890	0.05007	N	0.470268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-31.1423	3.3027	0.06989	0.2448:0.3051:0.3491:0.101	.	.	.	.	X	441	.	ENSP00000297866:E441X	E	+	1	0	CXorf22	35884145	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.269000	0.08596	-0.677000	0.05231	-1.184000	0.01707	GAA		0.358	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		23	50	1	0	5.26018e-13	1	6.70247e-13	23	50					T	35974224	G	T	35974224	4	4	48	1	0	0	0	0	0	1	0	0	4104	1059	37	2	1351	2	CXorf22	23	35974224	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1825550	35974224	119296336	4436	8904										
CXorf22	170063	broad.mit.edu	37	chrX	35984785	35984785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaagatttgcaatctttgtCggtaaaatctttccatcacg	7	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:35984785C>T	ENST00000297866.5	+	9	1580	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	505								p.S505L(2)|p.S505W(1)		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						CAATCTTTGTCGGTAAAATCT	0.368																																						ENST00000297866.5																			3	Substitution - Missense(3)	p.S505L(2)|p.S505W(1)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)	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.(1513-1515)tCg>tTg		chromosome X open reading frame 22							142	129	133					X																	35984785		2202	4299	6501	SO:0001583	missense	170063							g.chrX:35984785C>T	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.1514C>T	X.37:g.35984785C>T	ENSP00000297866:p.Ser505Leu		Somatic					p.S505L	NM_152632.3	NP_689845.2	WXS	Illumina GAIIx	Phase_I	Q6ZTR5	CX022_HUMAN			9	1580	+			505					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1514C>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	3.909	-0.020521	0.07634	.	.	ENSG00000165164	ENST00000297866	T	0.15256	2.44	5.7	2.71	0.32032	.	0.471841	0.21941	N	0.066878	T	0.13586	0.0329	L	0.57536	1.79	0.09310	N	1	B	0.23377	0.084	B	0.14023	0.01	T	0.23190	-1.0195	10	0.26408	T	0.33	-38.5711	3.9214	0.09245	0.3138:0.4772:0.0:0.2089	.	505	Q6ZTR5	CX022_HUMAN	L	505	ENSP00000297866:S505L	ENSP00000297866:S505L	S	+	2	0	CXorf22	35894706	0.014000	0.17966	0.001000	0.08648	0.001000	0.01503	1.445000	0.35079	0.580000	0.29522	-0.199000	0.12753	TCG		0.368	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		27	44	0	0	0	1	0	27	44					T	35984785	C	T	35984785	3	4	48	1	0	0	0	0	1	0	0	0	4104	893	31	1	1548	1	CXorf22	23	35984785	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	10561	35984785	119285775	4437	8905										
CXorf22	170063	broad.mit.edu	37	chrX	35988963	35988963	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acatttgaaaaacagcaaaaGaaattacatgaaaactatta	4	5	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:35988963G>A	ENST00000297866.5	+	11	1959	c.1893G>A	c.(1891-1893)aaG>aaA	p.K631K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	631										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						AACAGCAAAAGAAATTACATG	0.308																																						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.(1891-1893)aaG>aaA		chromosome X open reading frame 22							40	35	37					X																	35988963		2202	4293	6495	SO:0001819	synonymous_variant	170063							g.chrX:35988963G>A	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.1893G>A	X.37:g.35988963G>A			Somatic					p.K631K	NM_152632.3	NP_689845.2	WXS	Illumina GAIIx	Phase_I	Q6ZTR5	CX022_HUMAN			11	1959	+			631					Q5JRM8|Q8N6X8	Silent	SNP	ENST00000297866.5	37	c.1893G>A	CCDS14237.2																																																																																				0.308	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		5	16	0	0	0	1	0	5	16					A	35988963	G	A	35988963	2	1	48	1	0	0	0	0	0	0	0	1	4104	933	33	3		3	CXorf22	23	35988963	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4178	35988963	119281597	4438	8906										
CXorf59	286464	broad.mit.edu	37	chrX	36090024	36090025	+	Frame_Shift_Ins	INS	-	-	A													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caccctctcctgcttcaattINSaaaaagacatacaccactag							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:36090024_36090025insA	ENST00000313548.4	+	3	312_313	c.126_127insA	c.(127-129)aaafs	p.K43fs		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	43						integral component of membrane (GO:0016021)											CTGCTTCAATTAAAAAGACATA	0.366																																						ENST00000378660.1																			0											c.(124-129)ataaaafs		calponin homology domain containing 2																																				SO:0001589	frameshift_variant	286464							g.chrX:36090024_36090025insA	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.131dupA	X.37:g.36090029_36090029dupA	ENSP00000324767:p.Lys43fs		Somatic				CHDC2_ENST00000313548.4_Frame_Shift_Ins_p.IK42fs	p.IK42fs			WXS	Illumina GAIIx	Phase_I					3	314_315	+									Frame_Shift_Ins	INS	ENST00000313548.4	37	c.126_127insA	CCDS14238.1																																																																																				0.366	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		18	29						18	29	---	---	---	---	A	36090025	-	A	36090024	7	5	48	1	0	1	1	0	0	0	0	0	4117	1742	61	0	132	0	CXorf59	23	36090024	Frame_Shift_Ins	INS	-	TCGA-ND-A4WC-01A-21D-A28R-08	101061	36090024	119180536	4439	8907										
XK	7504	broad.mit.edu	37	chrX	37586899	37586899	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctccccaggtctcctcatGaccatatccctgttgtccat	5	16	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:37586899G>T	ENST00000378616.3	+	3	722	c.519G>T	c.(517-519)atG>atT	p.M173I	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	173					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GTCTCCTCATGACCATATCCC	0.498																																						ENST00000378616.3																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(517-519)atG>atT		X-linked Kx blood group (McLeod syndrome)							77	61	67					X																	37586899		2202	4300	6502	SO:0001583	missense	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37586899G>T	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.519G>T	X.37:g.37586899G>T	ENSP00000367879:p.Met173Ile		Somatic				TM4SF2_ENST00000465127.1_Intron	p.M173I	NM_021083.2	NP_066569.1	WXS	Illumina GAIIx	Phase_I	P51811	XK_HUMAN			3	722	+		all_lung(315;0.175)	173					Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	ENST00000378616.3	37	c.519G>T	CCDS14241.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247384	0.59103	.	.	ENSG00000047597	ENST00000378616	T	0.61158	0.13	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	L	0.58669	1.825	0.80722	D	1	P	0.49358	0.923	P	0.54544	0.755	T	0.61013	-0.7148	10	0.13108	T	0.6	-12.288	18.198	0.89829	0.0:0.0:1.0:0.0	.	173	P51811	XK_HUMAN	I	173	ENSP00000367879:M173I	ENSP00000367879:M173I	M	+	3	0	XK	37471838	1.000000	0.71417	0.182000	0.23118	0.588000	0.36517	9.350000	0.97070	2.235000	0.73313	0.556000	0.70494	ATG		0.498	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		9	34	1	0	3.09899e-07	1	3.54467e-07	9	34					T	37586899	G	T	37586899	3	4	48	1	0	0	0	0	1	0	0	0	17446	1290	45	2	529	2	XK	23	37586899	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1496875	37586899	117683661	4440	8908										
SYTL5	94122	broad.mit.edu	37	chrX	37893260	37893260	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagtggaggacaagagaataAggtagtattctttttatttt	10	2	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:37893260A>T	ENST00000357972.5	+	2	664	c.118A>T	c.(118-120)Agg>Tgg	p.R40W	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Splice_Site_p.R40W|SYTL5_ENST00000297875.2_Splice_Site_p.R40W			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	40	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CAAGAGAATAAGGTAGTATTC	0.368																																						ENST00000357972.5																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						c.e2+1		synaptotagmin-like 5							60	54	56					X																	37893260		2202	4300	6502	SO:0001630	splice_region_variant	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37893260A>T		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"exophilin 9"						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.119+1A>T	X.37:g.37893260A>T			Somatic				SYTL5_ENST00000456733.2_Splice_Site_p.R40_splice|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Splice_Site_p.R40_splice	p.R40_splice			WXS	Illumina GAIIx	Phase_I	Q8TDW5	SYTL5_HUMAN			2	664	+			40			RabBD.		A2RRF2	Splice_Site	SNP	ENST00000357972.5	37	c.119_splice	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377003	0.82682	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.78816	-1.21;-1.21;-1.21	5.67	5.67	0.87782	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.043479	0.85682	D	0.000000	D	0.85643	0.5744	M	0.62723	1.935	0.38727	D	0.953579	D;D	0.89917	1.0;0.999	D;D	0.73708	0.976;0.981	D	0.88229	0.2902	10	0.87932	D	0	-23.2669	13.3169	0.60411	1.0:0.0:0.0:0.0	.	40;40	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	W	40	ENSP00000297875:R40W;ENSP00000350657:R40W;ENSP00000395220:R40W	ENSP00000297875:R40W	R	+	1	2	SYTL5	37778204	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.287000	0.59001	2.009000	0.58944	0.486000	0.48141	AGG		0.368	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780	Missense_Mutation	6	19	0	0	0	1	0	6	19					T	37893260	A	T	37893260	5	4	48	1	0	0	0	0	0	0	1	0	15501	86	3	4	120	4	SYTL5	23	37893260	Splice_Site	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	306361	37893260	117377300	4441	8909										
CXorf38	159013	broad.mit.edu	37	chrX	40498296	40498296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgatcaaccacgaagtgatCgcaggagttgatgagactta	11	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:40498296C>T	ENST00000327877.5	-	3	462	c.436G>A	c.(436-438)Gat>Aat	p.D146N	CXorf38_ENST00000378421.1_Missense_Mutation_p.D27N|CXorf38_ENST00000378426.1_Missense_Mutation_p.D27N|CXorf38_ENST00000440784.2_Intron	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	146										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						ACGAAGTGATCGCAGGAGTTG	0.493																																						ENST00000378426.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						c.(79-81)Gat>Aat		chromosome X open reading frame 38							180	118	139					X																	40498296		2203	4300	6503	SO:0001583	missense	159013							g.chrX:40498296C>T	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.436G>A	X.37:g.40498296C>T	ENSP00000330488:p.Asp146Asn		Somatic				CXorf38_ENST00000378421.1_Missense_Mutation_p.D27N|CXorf38_ENST00000327877.5_Missense_Mutation_p.D146N|CXorf38_ENST00000440784.2_Intron	p.D27N			WXS	Illumina GAIIx	Phase_I	Q8TB03	CX038_HUMAN			2	676	-			146					B3KW28|D3DWB5|Q5JPF5|Q8N941	Missense_Mutation	SNP	ENST00000327877.5	37	c.79G>A	CCDS14253.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093577	0.76756	.	.	ENSG00000185753	ENST00000378426;ENST00000327877;ENST00000378421	T;T;T	0.47177	0.85;0.85;0.85	4.25	4.25	0.50352	.	0.364923	0.25683	N	0.028987	T	0.63486	0.2515	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.64676	-0.6351	10	0.46703	T	0.11	-17.3174	14.909	0.70740	0.0:1.0:0.0:0.0	.	146	Q8TB03	CX038_HUMAN	N	27;146;27	ENSP00000367683:D27N;ENSP00000330488:D146N;ENSP00000367677:D27N	ENSP00000330488:D146N	D	-	1	0	CXorf38	40383240	0.988000	0.35896	0.996000	0.52242	0.986000	0.74619	2.517000	0.45529	2.108000	0.64289	0.597000	0.82753	GAT		0.493	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970		18	35	0	0	0	1	0	18	35					T	40498296	C	T	40498296	3	4	48	1	0	0	0	0	1	0	0	0	4109	884	31	1	539	1	CXorf38	23	40498296	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2605036	40498296	114772264	4442	8910										
MED14	9282	broad.mit.edu	37	chrX	40586033	40586033	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttgccagcattattagcccAtttcactaaagctaataatc	4	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:40586033A>G	ENST00000324817.1	-	3	431	c.313T>C	c.(313-315)Tgg>Cgg	p.W105R		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	105					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTATTAGCCCATTTCACTAAA	0.323																																						ENST00000324817.1																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(313-315)Tgg>Cgg		mediator complex subunit 14							54	50	52					X																	40586033		2203	4300	6503	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40586033A>G	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.313T>C	X.37:g.40586033A>G	ENSP00000323720:p.Trp105Arg		Somatic					p.W105R	NM_004229.3	NP_004220.2	WXS	Illumina GAIIx	Phase_I	O60244	MED14_HUMAN			3	431	-			105					Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.313T>C	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.291638	0.80914	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.85767	0.5773	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89453	0.3731	9	0.87932	D	0	.	13.907	0.63843	1.0:0.0:0.0:0.0	.	105	O60244	MED14_HUMAN	R	105	.	ENSP00000323720:W105R	W	-	1	0	MED14	40470977	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.747000	0.91610	1.809000	0.52856	0.441000	0.28932	TGG		0.323	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		10	29	0	0	0	1	0	10	29					G	40586033	A	G	40586033	3	3	48	1	0	0	0	0	1	0	0	0	9441	217	8	4	4167	4	MED14	23	40586033	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	87737	40586033	114684527	4443	8911										
USP9X	8239	broad.mit.edu	37	chrX	41025176	41025176	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgctcctcaggcaaaacaAatatggaaatgcttagctga	9	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41025176A>C	ENST00000324545.8	+	16	2670	c.2037A>C	c.(2035-2037)caA>caC	p.Q679H	USP9X_ENST00000378308.2_Missense_Mutation_p.Q679H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	679					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						AGGCAAAACAAATATGGAAAT	0.368																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(2035-2037)caA>caC		ubiquitin specific peptidase 9, X-linked							129	123	125					X																	41025176		2195	4297	6492	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:41025176A>C	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.2037A>C	X.37:g.41025176A>C	ENSP00000316357:p.Gln679His		Somatic				USP9X_ENST00000378308.2_Missense_Mutation_p.Q679H	p.Q679H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	WXS	Illumina GAIIx	Phase_I	Q93008	USP9X_HUMAN			16	2670	+			679					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.2037A>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	17.82	3.484078	0.63962	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03212	4.01;4.01	4.92	2.51	0.30379	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	M	0.74258	2.255	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.976	T	0.00260	-1.1869	10	0.46703	T	0.11	.	8.6041	0.33762	0.8387:0.0:0.1613:0.0	.	679;679	Q93008-1;Q93008	.;USP9X_HUMAN	H	679	ENSP00000367558:Q679H;ENSP00000316357:Q679H	ENSP00000316357:Q679H	Q	+	3	2	USP9X	40910120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.863000	0.39459	0.186000	0.20125	0.486000	0.48141	CAA		0.368	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		5	90	0	0	0	1	0	5	90					C	41025176	A	C	41025176	3	2	48	1	0	0	0	0	1	0	0	0	17105	11	1	4	2095	4	USP9X	23	41025176	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	439143	41025176	114245384	4444	8912										
USP9X	8239	broad.mit.edu	37	chrX	41043781	41043781	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accagaaataacttcctaccGaatgcagatatggaaactcg	7	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41043781G>A	ENST00000324545.8	+	23	4044	c.3411G>A	c.(3409-3411)ccG>ccA	p.P1137P	USP9X_ENST00000378308.2_Silent_p.P1137P	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1137					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						ACTTCCTACCGAATGCAGATA	0.453																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3409-3411)ccG>ccA		ubiquitin specific peptidase 9, X-linked							116	106	109					X																	41043781		2168	4276	6444	SO:0001819	synonymous_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41043781G>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3411G>A	X.37:g.41043781G>A			Somatic				USP9X_ENST00000378308.2_Silent_p.P1137P	p.P1137P	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	WXS	Illumina GAIIx	Phase_I	Q93008	USP9X_HUMAN			23	4044	+			1137					O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	c.3411G>A	CCDS43930.1																																																																																				0.453	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		7	39	0	0	0	1	0	7	39					A	41043781	G	A	41043781	2	1	48	1	0	0	0	0	0	0	0	1	17105	1045	37	1		1	USP9X	23	41043781	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	18605	41043781	114226779	4445	8913										
USP9X	8239	broad.mit.edu	37	chrX	41055931	41055931	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacgcttacaatagtaatatTaatgtacccaatgctgaagt	6	7	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41055931T>G	ENST00000324545.8	+	28	4806	c.4173T>G	c.(4171-4173)atT>atG	p.I1391M	USP9X_ENST00000378308.2_Missense_Mutation_p.I1391M	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1391					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						ATAGTAATATTAATGTACCCA	0.328																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(4171-4173)atT>atG		ubiquitin specific peptidase 9, X-linked							54	47	50					X																	41055931		1860	4133	5993	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:41055931T>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.4173T>G	X.37:g.41055931T>G	ENSP00000316357:p.Ile1391Met		Somatic				USP9X_ENST00000378308.2_Missense_Mutation_p.I1391M	p.I1391M	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	WXS	Illumina GAIIx	Phase_I	Q93008	USP9X_HUMAN			28	4806	+			1391					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.4173T>G	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.862153	0.51482	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.67523	-0.27;-0.27	5.2	0.997	0.19851	.	0.000000	0.85682	D	0.000000	T	0.58807	0.2148	L	0.36672	1.1	0.46774	D	0.999193	D;D	0.61080	0.989;0.98	P;P	0.53062	0.717;0.641	T	0.52426	-0.8577	10	0.27785	T	0.31	.	5.417	0.16380	0.2717:0.0763:0.0:0.652	.	1391;1391	Q93008-1;Q93008	.;USP9X_HUMAN	M	1391	ENSP00000367558:I1391M;ENSP00000316357:I1391M	ENSP00000316357:I1391M	I	+	3	3	USP9X	40940875	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.753000	0.38359	0.207000	0.20607	0.441000	0.28932	ATT		0.328	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		18	19	0	0	0	1	0	18	19					G	41055931	T	G	41055931	3	3	48	1	0	0	0	0	1	0	0	0	17105	1742	61	4	4279	4	USP9X	23	41055931	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	12150	41055931	114214629	4446	8914										
USP9X	8239	broad.mit.edu	37	chrX	41057954	41057954	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtgtgaggaatctcaaacaAatagtagattctttgactga	9	5	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41057954A>C	ENST00000324545.8	+	30	5187	c.4554A>C	c.(4552-4554)caA>caC	p.Q1518H	USP9X_ENST00000378308.2_Missense_Mutation_p.Q1518H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1518					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						ATCTCAAACAAATAGTAGATT	0.343																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(4552-4554)caA>caC		ubiquitin specific peptidase 9, X-linked							63	59	61					X																	41057954		2176	4288	6464	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:41057954A>C	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.4554A>C	X.37:g.41057954A>C	ENSP00000316357:p.Gln1518His		Somatic				USP9X_ENST00000378308.2_Missense_Mutation_p.Q1518H	p.Q1518H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	WXS	Illumina GAIIx	Phase_I	Q93008	USP9X_HUMAN			30	5187	+			1518					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.4554A>C	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.393495	0.62066	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03065	4.06;4.07	4.74	1.91	0.25777	.	0.000000	0.85682	D	0.000000	T	0.06826	0.0174	L	0.47716	1.5	0.48571	D	0.999678	D;D	0.61080	0.989;0.967	P;P	0.56700	0.804;0.525	T	0.48811	-0.9002	10	0.15066	T	0.55	.	8.5228	0.33287	0.3313:0.0:0.6687:0.0	.	1518;1518	Q93008-1;Q93008	.;USP9X_HUMAN	H	1518	ENSP00000367558:Q1518H;ENSP00000316357:Q1518H	ENSP00000316357:Q1518H	Q	+	3	2	USP9X	40942898	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.858000	0.39408	0.356000	0.24157	-0.443000	0.05667	CAA		0.343	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		22	26	0	0	0	1	0	22	26					C	41057954	A	C	41057954	3	2	48	1	0	0	0	0	1	0	0	0	17105	11	1	4	4668	4	USP9X	23	41057954	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	2023	41057954	114212606	4447	8915										
GPR34	2857	broad.mit.edu	37	chrX	41555424	41555424	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgtctgttgtatagtatggAtgcttgctcttggtggattc	12	5	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41555424A>G	ENST00000378142.4	+	3	822	c.538A>G	c.(538-540)Atg>Gtg	p.M180V	GPR34_ENST00000378138.5_Missense_Mutation_p.M180V|CASK_ENST00000378154.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378158.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	180					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TATAGTATGGATGCTTGCTCT	0.348																																						ENST00000378142.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(538-540)Atg>Gtg		G protein-coupled receptor 34							69	65	66					X																	41555424		2203	4300	6503	SO:0001583	missense	2857					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:41555424A>G	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"GPCR / Class A : Orphans"	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.538A>G	X.37:g.41555424A>G	ENSP00000367384:p.Met180Val		Somatic				CASK_ENST00000442742.2_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.M180V	p.M180V	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	WXS	Illumina GAIIx	Phase_I	Q9UPC5	GPR34_HUMAN			3	822	+			180					O95853	Missense_Mutation	SNP	ENST00000378142.4	37	c.538A>G	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	A	0.026	-1.372781	0.01214	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.32988	1.43;1.43	5.96	-2.59	0.06209	GPCR, rhodopsin-like superfamily (1);	1.219840	0.05320	N	0.526466	T	0.15349	0.0370	N	0.10782	0.045	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.36311	-0.9753	10	0.02654	T	1	0.3675	13.6919	0.62550	0.5075:0.0:0.4925:0.0	.	180	Q9UPC5	GPR34_HUMAN	V	180;180;133	ENSP00000367384:M180V;ENSP00000367378:M180V	ENSP00000367378:M180V	M	+	1	0	GPR34	41440368	0.025000	0.19082	0.023000	0.16930	0.402000	0.30811	0.370000	0.20433	-0.479000	0.06813	-0.368000	0.07277	ATG		0.348	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		22	55	0	0	0	1	0	22	55					G	41555424	A	G	41555424	3	3	48	1	0	0	0	0	1	0	0	0	6697	333	12	4	540	4	GPR34	23	41555424	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	497470	41555424	113715136	4448	8916										
GPR34	2857	broad.mit.edu	37	chrX	41555868	41555868	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcttagatccagtcatgtatTtcctgatgtccagtaacatt	7	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41555868T>G	ENST00000378142.4	+	3	1266	c.982T>G	c.(982-984)Ttc>Gtc	p.F328V	GPR34_ENST00000378138.5_Missense_Mutation_p.F328V|CASK_ENST00000378154.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378158.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	328					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AGTCATGTATTTCCTGATGTC	0.363																																						ENST00000378142.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(982-984)Ttc>Gtc		G protein-coupled receptor 34							118	98	105					X																	41555868		2202	4299	6501	SO:0001583	missense	2857					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:41555868T>G	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"GPCR / Class A : Orphans"	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.982T>G	X.37:g.41555868T>G	ENSP00000367384:p.Phe328Val		Somatic				CASK_ENST00000442742.2_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.F328V	p.F328V	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	WXS	Illumina GAIIx	Phase_I	Q9UPC5	GPR34_HUMAN			3	1266	+			328					O95853	Missense_Mutation	SNP	ENST00000378142.4	37	c.982T>G	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.815257	0.70912	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.23552	1.9;1.9	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.29640	-1.0005	10	0.66056	D	0.02	-14.506	14.9871	0.71356	0.0:0.0:0.0:1.0	.	328	Q9UPC5	GPR34_HUMAN	V	328;328;281	ENSP00000367384:F328V;ENSP00000367378:F328V	ENSP00000367378:F328V	F	+	1	0	GPR34	41440812	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.694000	0.84235	1.922000	0.55676	0.481000	0.45027	TTC		0.363	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		5	39	0	0	0	1	0	5	39					G	41555868	T	G	41555868	3	3	48	1	0	0	0	0	1	0	0	0	6697	1841	64	4	984	4	GPR34	23	41555868	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	444	41555868	113714692	4449	8917										
EFHC2	80258	broad.mit.edu	37	chrX	44035549	44035549	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctaacttaccttgacaataaGgattctagaagatcatcact	5	9	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:44035549G>T	ENST00000420999.1	-	13	2114	c.2031C>A	c.(2029-2031)tcC>tcA	p.S677S	EFHC2_ENST00000343571.3_5'UTR	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	677							calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TTGACAATAAGGATTCTAGAA	0.373																																						ENST00000420999.1																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(2029-2031)tcC>tcA		EF-hand domain (C-terminal) containing 2							131	109	116					X																	44035549		1857	4093	5950	SO:0001819	synonymous_variant	80258						calcium ion binding	g.chrX:44035549G>T	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"EF-hand domain containing"	26233	protein-coding gene	gene with protein product		300817	"mental retardation, X-linked 74"	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.2031C>A	X.37:g.44035549G>T			Somatic				EFHC2_ENST00000343571.3_5'UTR	p.S677S	NM_025184.3	NP_079460.2	WXS	Illumina GAIIx	Phase_I	Q5JST6	EFHC2_HUMAN			13	2114	-			677					Q5JST8|Q68DK4|Q8NEI0|Q9H653	Silent	SNP	ENST00000420999.1	37	c.2031C>A	CCDS55405.1	.	.	.	.	.	.	.	.	.	.	G	2.648	-0.282675	0.05642	.	.	ENSG00000183690	ENST00000441230	.	.	.	5.6	0.231	0.15377	.	.	.	.	.	T	0.20292	0.0488	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22068	-1.0227	4	.	.	.	0.8822	1.1485	0.01780	0.1775:0.1448:0.3765:0.3012	.	.	.	.	I	658	.	.	L	-	1	0	EFHC2	43920493	0.685000	0.27652	0.001000	0.08648	0.033000	0.12548	0.850000	0.27737	-0.020000	0.14032	-0.208000	0.12717	CTT		0.373	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		4	4	1	0	2.56e-06	1	2.86294e-06	4	4					T	44035549	G	T	44035549	2	4	48	1	0	0	0	0	0	0	0	1	4949	987	35	5		5	EFHC2	23	44035549	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2479681	44035549	111235011	4450	8918										
CHST7	56548	broad.mit.edu	37	chrX	46433855	46433855	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgcgttcgctcttccgctgCgacttctccgtgctgcggct	11	16	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:46433855C>T	ENST00000276055.3	+	1	637	c.489C>T	c.(487-489)tgC>tgT	p.C163C		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	163					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|N-acetylglucosamine metabolic process (GO:0006044)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						TCTTCCGCTGCGACTTCTCCG	0.701																																						ENST00000276055.3																			0				breast(3)|endometrium(2)|kidney(1)|lung(2)	8						c.(487-489)tgC>tgT		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7							25	25	25					X																	46433855		2201	4293	6494	SO:0001819	synonymous_variant	56548				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity	g.chrX:46433855C>T	AB040711	CCDS14268.1	Xp11.3	2008-02-05			ENSG00000147119	ENSG00000147119		"Sulfotransferases, membrane-bound"	13817	protein-coding gene	gene with protein product		300375				10781596	Standard	NM_019886		Approved	C6ST-2, C6ST2	uc004dgt.3	Q9NS84	OTTHUMG00000021423	ENST00000276055.3:c.489C>T	X.37:g.46433855C>T			Somatic					p.C163C	NM_019886.2	NP_063939.2	WXS	Illumina GAIIx	Phase_I	Q9NS84	CHST7_HUMAN			1	637	+			163					O75667	Silent	SNP	ENST00000276055.3	37	c.489C>T	CCDS14268.1																																																																																				0.701	CHST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056362.1	NM_019886		18	28	0	0	0	1	0	18	28					T	46433855	C	T	46433855	2	4	48	1	0	0	0	0	0	0	0	1	3411	776	27	1		1	CHST7	23	46433855	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2398306	46433855	108836705	4451	8919										
UBA1	7317	broad.mit.edu	37	chrX	47060346	47060346	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagctgcgagtgggtgagttCtgtcacaaccgtggcatcaa	13	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47060346C>T	ENST00000335972.6	+	6	717	c.534C>T	c.(532-534)ttC>ttT	p.F178F	UBA1_ENST00000377351.4_Silent_p.F178F	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	178	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGGTGAGTTCTGTCACAACC	0.632																																						ENST00000335972.6																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(532-534)ttC>ttT		ubiquitin-like modifier activating enzyme 1							84	61	69					X																	47060346		2202	4294	6496	SO:0001819	synonymous_variant	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47060346C>T	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.534C>T	X.37:g.47060346C>T			Somatic				UBA1_ENST00000377351.4_Silent_p.F178F	p.F178F	NM_003334.3	NP_003325.2	WXS	Illumina GAIIx	Phase_I	P22314	UBA1_HUMAN			6	717	+			178			2 approximate repeats.		Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	c.534C>T	CCDS14275.1																																																																																				0.632	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		6	13	0	0	0	1	0	6	13					T	47060346	C	T	47060346	2	4	48	1	0	0	0	0	0	0	0	1	16842	912	32	3		3	UBA1	23	47060346	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	626491	47060346	108210214	4452	8920										
ARAF	369	broad.mit.edu	37	chrX	47424688	47424688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggatttgtccggaggctccAgacagcatgaggctccctcg	13	12	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47424688A>G	ENST00000377045.4	+	6	690	c.496A>G	c.(496-498)Aga>Gga	p.R166G	ARAF_ENST00000290277.6_Missense_Mutation_p.R166G|ARAF_ENST00000377039.2_Missense_Mutation_p.R166G	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	166					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CGGAGGCTCCAGACAGCATGA	0.582																																						ENST00000377045.4																			0				biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(496-498)Aga>Gga		v-raf murine sarcoma 3611 viral oncogene homolog	Adenosine triphosphate(DB00171)						69	60	63					X																	47424688		2203	4300	6503	SO:0001583	missense	369				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chrX:47424688A>G	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"v-raf murine sarcoma 3611 viral oncogene homolog 1"	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.496A>G	X.37:g.47424688A>G	ENSP00000366244:p.Arg166Gly		Somatic				ARAF_ENST00000377039.2_Missense_Mutation_p.R166G|ARAF_ENST00000290277.6_Missense_Mutation_p.R166G	p.R166G	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	WXS	Illumina GAIIx	Phase_I	P10398	ARAF_HUMAN			6	690	+			166					P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	ENST00000377045.4	37	c.496A>G	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	a	10.43	1.347973	0.24426	.	.	ENSG00000078061	ENST00000377045;ENST00000290277;ENST00000377039	T;D;D	0.94330	-0.81;-3.4;-3.4	5.52	1.68	0.24146	.	0.667592	0.15630	N	0.252407	D	0.86213	0.5879	L	0.36672	1.1	0.29451	N	0.858422	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.74899	-0.3507	10	0.24483	T	0.36	.	4.7642	0.13123	0.5177:0.3813:0.101:0.0	.	166;32	P10398;B4DV85	ARAF_HUMAN;.	G	166	ENSP00000366244:R166G;ENSP00000290277:R166G;ENSP00000366238:R166G	ENSP00000290277:R166G	R	+	1	2	ARAF	47309632	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	1.091000	0.30915	0.853000	0.35312	0.478000	0.44815	AGA		0.582	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			9	67	0	0	0	1	0	9	67					G	47424688	A	G	47424688	3	3	48	1	0	0	0	0	1	0	0	0	837	180	7	4	514	4	ARAF	23	47424688	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	364342	47424688	107845872	4453	8921										
TIMP1	7076	broad.mit.edu	37	chrX	47444652	47444652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgccgctgacatccggttcGtctacacccccgccatggag	10	16	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47444652G>A	ENST00000218388.4	+	4	420	c.250G>A	c.(250-252)Gtc>Atc	p.V84I	TIMP1_ENST00000377017.1_Missense_Mutation_p.V20I|TIMP1_ENST00000377018.2_Silent_p.S7S|TIMP1_ENST00000456754.2_Missense_Mutation_p.V84I|SYN1_ENST00000340666.4_Intron|MIR4769_ENST00000584126.1_RNA|SYN1_ENST00000295987.7_Intron	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	84	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				aging (GO:0007568)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of trophoblast cell migration (GO:1901164)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell proliferation (GO:0008284)|regulation of integrin-mediated signaling pathway (GO:2001044)|response to cytokine (GO:0034097)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	cytokine activity (GO:0005125)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|large_intestine(2)	3						CATCCGGTTCGTCTACACCCC	0.562																																						ENST00000456754.2																			0				endometrium(1)|large_intestine(2)	3						c.(250-252)Gtc>Atc		TIMP metallopeptidase inhibitor 1							59	50	53					X																	47444652		2203	4300	6503	SO:0001583	missense	7076				erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chrX:47444652G>A		CCDS14281.1	Xp11.3-p11.23	2008-07-29	2005-08-08		ENSG00000102265	ENSG00000102265			11820	protein-coding gene	gene with protein product		305370	"tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor)"	TIMP, CLGI			Standard	XM_005272645		Approved	EPO	uc004dif.3	P01033	OTTHUMG00000021447	ENST00000218388.4:c.250G>A	X.37:g.47444652G>A	ENSP00000218388:p.Val84Ile		Somatic				SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000218388.4_Missense_Mutation_p.V84I|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377018.2_Silent_p.S7S|TIMP1_ENST00000377017.1_Missense_Mutation_p.V20I	p.V84I			WXS	Illumina GAIIx	Phase_I	P01033	TIMP1_HUMAN			4	325	+			84			NTR.		Q14252|Q9UCU1	Missense_Mutation	SNP	ENST00000218388.4	37	c.250G>A	CCDS14281.1	.	.	.	.	.	.	.	.	.	.	g	1.940	-0.443792	0.04604	.	.	ENSG00000102265	ENST00000218388;ENST00000456754;ENST00000377017	D;D;D	0.93906	-3.31;-3.31;-3.31	4.55	-4.31	0.03698	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	1.064110	0.07349	N	0.881994	T	0.79227	0.4410	N	0.04805	-0.155	0.18873	N	0.999988	B	0.09022	0.002	B	0.08055	0.003	T	0.71224	-0.4656	10	0.02654	T	1	.	7.1095	0.25382	0.2622:0.447:0.2908:0.0	.	84	P01033	TIMP1_HUMAN	I	84;84;20	ENSP00000218388:V84I;ENSP00000406671:V84I;ENSP00000366216:V20I	ENSP00000218388:V84I	V	+	1	0	TIMP1	47329596	0.000000	0.05858	0.003000	0.11579	0.988000	0.76386	-0.459000	0.06728	-0.855000	0.04125	0.579000	0.79373	GTC		0.562	TIMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056423.1	NM_003254		5	33	0	0	0	1	0	5	33					A	47444652	G	A	47444652	3	1	48	1	0	0	0	0	1	0	0	0	15932	1145	40	1	260	1	TIMP1	23	47444652	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	19964	47444652	107825908	4454	8922										
UXT	8409	broad.mit.edu	37	chrX	47516992	47516992	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccactgtgtcaacgaagaagTtacagcccaaatccacctgc	7	14	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47516992T>G	ENST00000333119.3	-	4	282	c.227A>C	c.(226-228)aAc>aCc	p.N76T	RP1-212G6.7_ENST00000590504.1_RNA|RP1-212G6.7_ENST00000591832.1_RNA|UXT_ENST00000460840.1_5'Flank|UXT_ENST00000335890.2_Missense_Mutation_p.N88T	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	76					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						AACGAAGAAGTTACAGCCCAA	0.498																																						ENST00000335890.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						c.(262-264)aAc>aCc		ubiquitously-expressed, prefoldin-like chaperone							119	88	98					X																	47516992		2203	4300	6503	SO:0001583	missense	8409				centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding	g.chrX:47516992T>G	AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"androgen receptor trapped clone 27", "SKP2-associated alpha PFD 1"	300234	"ubiquitously-expressed transcript"			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.227A>C	X.37:g.47516992T>G	ENSP00000327797:p.Asn76Thr		Somatic				UXT_ENST00000333119.3_Missense_Mutation_p.N76T	p.N88T	NM_153477.2	NP_705582.1	WXS	Illumina GAIIx	Phase_I	Q9UBK9	UXT_HUMAN			3	416	-			76					B2R561|Q5JZG3|Q9Y6E5	Missense_Mutation	SNP	ENST00000333119.3	37	c.263A>C	CCDS14285.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690751	0.68271	.	.	ENSG00000126756	ENST00000333119;ENST00000335890	T;T	0.41400	1.0;1.0	5.35	5.35	0.76521	Prefoldin (1);Prefoldin subunit (1);	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	M	0.85299	2.745	0.39083	D	0.960958	D	0.64830	0.994	D	0.63192	0.912	T	0.68424	-0.5412	10	0.42905	T	0.14	-17.8809	10.3754	0.44079	0.0:0.0:0.0:1.0	.	76	Q9UBK9	UXT_HUMAN	T	76;88	ENSP00000327797:N76T;ENSP00000337393:N88T	ENSP00000327797:N76T	N	-	2	0	UXT	47401936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.588000	0.60999	1.976000	0.57569	0.486000	0.48141	AAC		0.498	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056440.1	NM_153477		11	21	0	0	0	1	0	11	21					G	47516992	T	G	47516992	3	3	48	1	0	0	0	0	1	0	0	0	17125	1725	60	4	262	4	UXT	23	47516992	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	72340	47516992	107753568	4455	8923										
UXT	8409	broad.mit.edu	37	chrX	47517203	47517203	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagtcgctcaatgacatttCtcagttgaaggtatttggcc	11	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47517203C>A	ENST00000333119.3	-	3	213	c.158G>T	c.(157-159)aGa>aTa	p.R53I	RP1-212G6.7_ENST00000590504.1_RNA|RP1-212G6.7_ENST00000591832.1_RNA|UXT_ENST00000460840.1_5'Flank|UXT_ENST00000335890.2_Missense_Mutation_p.R65I	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	53					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						AATGACATTTCTCAGTTGAAG	0.488																																						ENST00000335890.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						c.(193-195)aGa>aTa		ubiquitously-expressed, prefoldin-like chaperone							123	90	101					X																	47517203		2203	4300	6503	SO:0001583	missense	8409				centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding	g.chrX:47517203C>A	AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"androgen receptor trapped clone 27", "SKP2-associated alpha PFD 1"	300234	"ubiquitously-expressed transcript"			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.158G>T	X.37:g.47517203C>A	ENSP00000327797:p.Arg53Ile		Somatic				UXT_ENST00000333119.3_Missense_Mutation_p.R53I	p.R65I	NM_153477.2	NP_705582.1	WXS	Illumina GAIIx	Phase_I	Q9UBK9	UXT_HUMAN			2	347	-			53					B2R561|Q5JZG3|Q9Y6E5	Missense_Mutation	SNP	ENST00000333119.3	37	c.194G>T	CCDS14285.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341793	0.61073	.	.	ENSG00000126756	ENST00000333119;ENST00000335890;ENST00000376964	T;T	0.39056	1.1;1.1	5.35	0.32	0.15878	Prefoldin (1);Prefoldin subunit (1);	0.172649	0.49916	D	0.000123	T	0.46946	0.1419	L	0.48642	1.525	0.43988	D	0.996686	D;P	0.60575	0.988;0.514	P;B	0.62298	0.9;0.093	T	0.32534	-0.9903	10	0.48119	T	0.1	-0.9842	7.1867	0.25803	0.0:0.4372:0.0:0.5628	.	53;53	Q9UBK9;B1AJQ0	UXT_HUMAN;.	I	53;65;53	ENSP00000327797:R53I;ENSP00000337393:R65I	ENSP00000327797:R53I	R	-	2	0	UXT	47402147	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	0.442000	0.21628	0.010000	0.14839	-0.191000	0.12829	AGA		0.488	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056440.1	NM_153477		6	36	1	0	0.00116845	1	0.00122532	6	36					A	47517203	C	A	47517203	3	1	48	1	0	0	0	0	1	0	0	0	17125	913	32	2	335	2	UXT	23	47517203	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	211	47517203	107753357	4456	8924										
ZNF81	347344	broad.mit.edu	37	chrX	47775478	47775478	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgcagtgactgtgggaaatCtttcccttctaagtcacaac	8	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47775478C>A	ENST00000376954.1	+	6	1801	c.1433C>A	c.(1432-1434)tCt>tAt	p.S478Y	ZNF81_ENST00000338637.7_Missense_Mutation_p.S478Y			P51508	ZNF81_HUMAN	zinc finger protein 81	478					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)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TGTGGGAAATCTTTCCCTTCT	0.438																																						ENST00000376954.1																			0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(1432-1434)tCt>tAt		zinc finger protein 81							45	43	44					X																	47775478		2203	4299	6502	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47775478C>A	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1433C>A	X.37:g.47775478C>A	ENSP00000366153:p.Ser478Tyr		Somatic				ZNF81_ENST00000338637.7_Missense_Mutation_p.S478Y	p.S478Y			WXS	Illumina GAIIx	Phase_I	P51508	ZNF81_HUMAN			6	1801	+		all_lung(315;0.0973)	478					Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.1433C>A	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158807	0.38119	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.51574	0.7;0.7	4.06	4.06	0.47325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42821	D	0.000647	T	0.59636	0.2208	L	0.60957	1.885	0.20307	N	0.999917	D	0.76494	0.999	D	0.68621	0.959	T	0.50725	-0.8794	10	0.87932	D	0	.	8.943	0.35742	0.0:0.778:0.222:0.0	.	478	P51508	ZNF81_HUMAN	Y	478	ENSP00000366153:S478Y;ENSP00000341151:S478Y	ENSP00000341151:S478Y	S	+	2	0	ZNF81	47660422	0.000000	0.05858	0.995000	0.50966	0.995000	0.86356	-0.252000	0.08806	2.279000	0.76181	0.600000	0.82982	TCT		0.438	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		22	45	1	0	1.87028e-06	1	2.10206e-06	22	45					A	47775478	C	A	47775478	3	1	48	1	0	0	0	0	1	0	0	0	18189	913	32	2	1447	2	ZNF81	23	47775478	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	258275	47775478	107495082	4457	8925										
ZNF81	347344	broad.mit.edu	37	chrX	47775514	47775514	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaactccagatgcataagaGaattcatacaggagagaaac	8	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47775514G>T	ENST00000376954.1	+	6	1837	c.1469G>T	c.(1468-1470)aGa>aTa	p.R490I	ZNF81_ENST00000338637.7_Missense_Mutation_p.R490I			P51508	ZNF81_HUMAN	zinc finger protein 81	490					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.R490I(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ATGCATAAGAGAATTCATACA	0.408																																						ENST00000376954.1																			1	Substitution - Missense(1)	p.R490I(1)	large_intestine(1)	breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(1468-1470)aGa>aTa		zinc finger protein 81							43	43	43					X																	47775514		2201	4296	6497	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47775514G>T	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1469G>T	X.37:g.47775514G>T	ENSP00000366153:p.Arg490Ile		Somatic				ZNF81_ENST00000338637.7_Missense_Mutation_p.R490I	p.R490I			WXS	Illumina GAIIx	Phase_I	P51508	ZNF81_HUMAN			6	1837	+		all_lung(315;0.0973)	490					Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.1469G>T	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.227190	0.58668	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.24908	1.83;1.83	3.96	3.96	0.45880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34133	N	0.004234	T	0.42223	0.1193	L	0.61218	1.895	0.40405	D	0.979681	D	0.89917	1.0	D	0.79784	0.993	T	0.36016	-0.9765	10	0.62326	D	0.03	.	6.6912	0.23171	0.1278:0.0:0.8722:0.0	.	490	P51508	ZNF81_HUMAN	I	490	ENSP00000366153:R490I;ENSP00000341151:R490I	ENSP00000341151:R490I	R	+	2	0	ZNF81	47660458	0.213000	0.23551	1.000000	0.80357	0.979000	0.70002	2.941000	0.49011	2.237000	0.73441	0.544000	0.68410	AGA		0.408	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		24	43	1	0	3.83957e-06	1	4.27438e-06	24	43					T	47775514	G	T	47775514	3	4	48	1	0	0	0	0	1	0	0	0	18189	942	33	2	1483	2	ZNF81	23	47775514	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	36	47775514	107495046	4458	8926										
ZNF630	57232	broad.mit.edu	37	chrX	47918899	47918899	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtttctccccagtatgaatcCtctgatgcacaatgaggtgt	9	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47918899C>A	ENST00000409324.3	-	5	1158	c.932G>T	c.(931-933)aGg>aTg	p.R311M	ZNF630_ENST00000276054.4_Missense_Mutation_p.R187M|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.R297M	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						AGTATGAATCCTCTGATGCAC	0.418																																						ENST00000276054.4																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.(559-561)aGg>aTg		zinc finger protein 630							67	60	62					X																	47918899		2196	4290	6486	SO:0001583	missense	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47918899C>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.932G>T	X.37:g.47918899C>A	ENSP00000386393:p.Arg311Met		Somatic				ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.R297M|ZNF630_ENST00000409324.3_Missense_Mutation_p.R311M	p.R187M			WXS	Illumina GAIIx	Phase_I	Q2M218	ZN630_HUMAN			5	1494	-			311					F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.560G>T	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	7.094	0.572672	0.13623	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.25579	1.79;1.79;1.79	2.16	0.0211	0.14127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22898	0.0553	M	0.83953	2.67	0.09310	N	0.999999	P	0.37466	0.596	B	0.28849	0.095	T	0.32214	-0.9915	9	0.72032	D	0.01	.	0.8931	0.01258	0.2316:0.3801:0.2271:0.1612	.	311	Q2M218	ZN630_HUMAN	M	297;187;311	ENSP00000393163:R297M;ENSP00000354683:R187M;ENSP00000386393:R311M	ENSP00000354683:R187M	R	-	2	0	ZNF630	47803843	0.000000	0.05858	0.008000	0.14137	0.013000	0.08279	-0.323000	0.07997	-0.231000	0.09825	-0.236000	0.12185	AGG		0.418	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		23	12	1	0	3.62473e-10	1	4.42315e-10	23	12					A	47918899	C	A	47918899	3	1	48	1	0	0	0	0	1	0	0	0	18069	681	24	5	1045	5	ZNF630	23	47918899	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	143385	47918899	107351661	4459	8927										
ZNF630	57232	broad.mit.edu	37	chrX	47919053	47919053	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actacaaacattgggtttctCtctggcttgaaatttcttat	6	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47919053C>T	ENST00000409324.3	-	5	1004	c.778G>A	c.(778-780)Gag>Aag	p.E260K	ZNF630_ENST00000276054.4_Missense_Mutation_p.E136K|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.E246K	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TTGGGTTTCTCTCTGGCTTGA	0.378																																						ENST00000276054.4																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.(406-408)Gag>Aag		zinc finger protein 630							132	120	124					X																	47919053		2196	4290	6486	SO:0001583	missense	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47919053C>T	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.778G>A	X.37:g.47919053C>T	ENSP00000386393:p.Glu260Lys		Somatic				ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.E246K|ZNF630_ENST00000409324.3_Missense_Mutation_p.E260K	p.E136K			WXS	Illumina GAIIx	Phase_I	Q2M218	ZN630_HUMAN			5	1340	-			260					F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.406G>A	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	12.45	1.942373	0.34283	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.41065	1.01;1.01;1.01	2.16	1.27	0.21489	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30448	0.0765	L	0.39085	1.19	0.26599	N	0.973052	B	0.21225	0.053	B	0.17722	0.019	T	0.26121	-1.0112	9	0.62326	D	0.03	.	6.3248	0.21237	0.0:0.8256:0.0:0.1744	.	260	Q2M218	ZN630_HUMAN	K	246;136;260	ENSP00000393163:E246K;ENSP00000354683:E136K;ENSP00000386393:E260K	ENSP00000354683:E136K	E	-	1	0	ZNF630	47803997	0.095000	0.21747	0.005000	0.12908	0.153000	0.21895	1.578000	0.36525	0.179000	0.19938	0.544000	0.68410	GAG		0.378	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		32	14	0	0	0	1	0	32	14					T	47919053	C	T	47919053	3	4	48	1	0	0	0	0	1	0	0	0	18069	922	32	3	1199	3	ZNF630	23	47919053	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	154	47919053	107351507	4460	8928										
SSX5	6758	broad.mit.edu	37	chrX	48054555	48054555	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttccacggtcacagacttgtCtccagggatgctaggtgatg	12	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48054555C>T	ENST00000376923.1	-	1	69				SSX5_ENST00000311798.1_Missense_Mutation_p.R27K|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						ACAGACTTGTCTCCAGGGATG	0.557																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(79-81)aGa>aAa		synovial sarcoma, X breakpoint 5							83	74	77					X																	48054555		2203	4299	6502	SO:0001627	intron_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48054555C>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.69+170G>A	X.37:g.48054555C>T			Somatic				SSX5_ENST00000347757.1_Intron|SSX5_ENST00000376923.1_Intron	p.R27K	NM_021015.3	NP_066295.3	WXS	Illumina GAIIx	Phase_I	O60225	SSX5_HUMAN			3	132	-			23			KRAB-related.		Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	c.80G>A	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	12.71	2.019701	0.35606	.	.	ENSG00000165583	ENST00000311798	T	0.09350	2.99	1.51	-0.776	0.10984	.	.	.	.	.	T	0.04318	0.0119	.	.	.	0.09310	N	1	B	0.31290	0.318	B	0.29353	0.101	T	0.42531	-0.9446	8	0.13470	T	0.59	.	2.512	0.04659	0.0:0.4429:0.3179:0.2391	.	27	O60225-2	.	K	27	ENSP00000312415:R27K	ENSP00000312415:R27K	R	-	2	0	SSX5	47939499	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-1.407000	0.02488	-0.316000	0.08690	0.171000	0.16805	AGA		0.557	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		15	74	0	0	0	1	0	15	74					T	48054555	C	T	48054555	1	4	48	0	1	0	0	0	0	0	0	0	15223	913	32	3		3	SSX5	23	48054555	Intron	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	135502	48054555	107216005	4461	8929										
SSX1	6756	broad.mit.edu	37	chrX	48125776	48125776	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgcgtgagagaaagcagcTggtgatttatgaagagatca	13	5	1	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48125776T>G	ENST00000376919.3	+	7	657	c.521T>G	c.(520-522)cTg>cGg	p.L174R		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	174					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AGAAAGCAGCTGGTGATTTAT	0.502			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	ENST00000376919.3				Dom	yes		X	Xp11.23-p11.22	6756	T	"synovial sarcoma, X breakpoint 1"			M	SS18		synovial sarcoma	SS18/SSX1(1169)|SS18L1/SSX1(2)	0				endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(520-522)cTg>cGg		synovial sarcoma, X breakpoint 1							306	290	296					X																	48125776		1511	2706	4217	SO:0001583	missense	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48125776T>G	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"cancer/testis antigen family 5, member 1"	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.521T>G	X.37:g.48125776T>G	ENSP00000366118:p.Leu174Arg		Somatic					p.L174R	NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	WXS	Illumina GAIIx	Phase_I	Q16384	SSX1_HUMAN			7	657	+			174					A3KN76|Q08AJ2|Q5JQ64	Missense_Mutation	SNP	ENST00000376919.3	37	c.521T>G	CCDS14290.1	.	.	.	.	.	.	.	.	.	.	N	10.38	1.334428	0.24253	.	.	ENSG00000126752	ENST00000376919	T	0.06218	3.33	2.39	-4.79	0.03200	SSXRD motif (1);	3.620120	0.00760	N	0.001127	T	0.04497	0.0123	N	0.16368	0.405	0.09310	N	1	P	0.46457	0.878	P	0.49752	0.621	T	0.40869	-0.9540	10	0.06494	T	0.89	.	0.3837	0.00399	0.2033:0.2928:0.2047:0.2992	.	174	Q16384	SSX1_HUMAN	R	174	ENSP00000366118:L174R	ENSP00000366118:L174R	L	+	2	0	SSX1	48010720	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.108000	0.00601	-1.147000	0.02851	-0.976000	0.02587	CTG		0.502	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635		11	363	0	0	0	1	0	11	363					G	48125776	T	G	48125776	3	3	48	1	0	0	0	0	1	0	0	0	15218	1580	55	4	543	4	SSX1	23	48125776	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	71221	48125776	107144784	4462	8930										
WAS	7454	broad.mit.edu	37	chrX	48542671	48542671	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acccctgctttcctctcccaGacgctggccactgcagttgt	8	17	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48542671G>T	ENST00000376701.4	+	2	207		c.e2-1		WAS_ENST00000483750.1_Splice_Site	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome						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)				TCCTCTCCCAGACGCTGGCCA	0.602			"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	HS040017	WAS	S		c.e2-1		Wiskott-Aldrich syndrome							54	46	49					X																	48542671		2203	4300	6503	SO:0001630	splice_region_variant	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:48542671G>T	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.133-1G>T	X.37:g.48542671G>T			Somatic				WAS_ENST00000483750.1_Splice_Site		NM_000377.2	NP_000368.1	WXS	Illumina GAIIx	Phase_I	P42768	WASP_HUMAN			2	207	+		all_lung(315;1.27e-10)						Q9BU11|Q9UNJ9	Splice_Site	SNP	ENST00000376701.4	37		CCDS14303.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572204	0.86542	.	.	ENSG00000015285	ENST00000450772;ENST00000376701	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8325	0.63389	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WAS	48427615	1.000000	0.71417	0.789000	0.31954	0.719000	0.41307	6.575000	0.74018	1.830000	0.53286	0.287000	0.19450	.		0.602	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377	Intron	26	43	1	0	2.12542e-12	1	2.68024e-12	26	43					T	48542671	G	T	48542671	5	4	48	1	0	0	0	0	0	0	1	0	17266	956	33	2	138	2	WAS	23	48542671	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	416895	48542671	106727889	4463	8931										
WAS	7454	broad.mit.edu	37	chrX	48542779	48542779	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcgtgaaggataacccccaGaagtcctacttcatccgcct	7	14	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48542779G>T	ENST00000376701.4	+	2	315	c.240G>T	c.(238-240)caG>caT	p.Q80H	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	80	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				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)				ATAACCCCCAGAAGTCCTACT	0.592			"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						c.(238-240)caG>caT		Wiskott-Aldrich syndrome							112	78	89					X																	48542779		2203	4300	6503	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:48542779G>T	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.240G>T	X.37:g.48542779G>T	ENSP00000365891:p.Gln80His		Somatic				WAS_ENST00000483750.1_3'UTR	p.Q80H	NM_000377.2	NP_000368.1	WXS	Illumina GAIIx	Phase_I	P42768	WASP_HUMAN			2	315	+		all_lung(315;1.27e-10)	80			WH1.		Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	c.240G>T	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538456	0.45176	.	.	ENSG00000015285	ENST00000450772;ENST00000376701	D;D	0.98762	-5.12;-5.12	4.73	1.53	0.23141	EVH1 (3);Pleckstrin homology-type (1);	0.139125	0.46145	D	0.000308	D	0.97393	0.9147	L	0.38175	1.15	0.32578	N	0.528837	D	0.61080	0.989	D	0.66084	0.941	D	0.95281	0.8386	10	0.52906	T	0.07	-10.8976	2.8521	0.05561	0.1069:0.288:0.4461:0.159	.	80	P42768	WASP_HUMAN	H	80	ENSP00000410537:Q80H;ENSP00000365891:Q80H	ENSP00000365891:Q80H	Q	+	3	2	WAS	48427723	1.000000	0.71417	0.998000	0.56505	0.493000	0.33554	2.180000	0.42537	0.788000	0.33755	0.287000	0.19450	CAG		0.592	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		21	26	1	0	1.96292e-10	1	2.40731e-10	21	26					T	48542779	G	T	48542779	3	4	48	1	0	0	0	0	1	0	0	0	17266	933	33	2	246	2	WAS	23	48542779	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	108	48542779	106727781	4464	8932										
WAS	7454	broad.mit.edu	37	chrX	48549533	48549533	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggctggcgatgaagatgaaGatgatgaatgggatgactga	16	3	0	8			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48549533G>T	ENST00000376701.4	+	12	1564	c.1489G>T	c.(1489-1491)Gat>Tat	p.D497Y		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	497	Asp/Glu-rich (acidic).				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)				TGAAGATGAAGATGATGAATG	0.597			"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						c.(1489-1491)Gat>Tat		Wiskott-Aldrich syndrome							296	185	222					X																	48549533		2203	4300	6503	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:48549533G>T	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.1489G>T	X.37:g.48549533G>T	ENSP00000365891:p.Asp497Tyr		Somatic					p.D497Y	NM_000377.2	NP_000368.1	WXS	Illumina GAIIx	Phase_I	P42768	WASP_HUMAN			12	1564	+		all_lung(315;1.27e-10)	497			Asp/Glu-rich (acidic).		Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	c.1489G>T	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	G	9.090	1.001593	0.19121	.	.	ENSG00000015285	ENST00000376701	D	0.99872	-7.37	4.7	3.82	0.43975	.	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	M	0.89095	3.005	0.44611	D	0.997587	P	0.43287	0.802	B	0.42245	0.381	D	0.97532	1.0080	10	0.87932	D	0	-10.4696	10.1563	0.42825	0.0:0.1984:0.8016:0.0	.	497	P42768	WASP_HUMAN	Y	497	ENSP00000365891:D497Y	ENSP00000365891:D497Y	D	+	1	0	WAS	48434477	1.000000	0.71417	0.200000	0.23457	0.747000	0.42532	5.925000	0.70062	0.876000	0.35872	0.597000	0.82753	GAT		0.597	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		23	35	1	0	6.36457e-07	1	7.23721e-07	23	35					T	48549533	G	T	48549533	3	4	48	1	0	0	0	0	1	0	0	0	17266	942	33	2	1535	2	WAS	23	48549533	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	6754	48549533	106721027	4465	8933										
GLOD5	392465	broad.mit.edu	37	chrX	48624299	48624299	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atccgtagacttgaccacatCgtgatgacggtgaagagcat	11	9	0	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48624299C>T	ENST00000303227.6	+	2	164	c.123C>T	c.(121-123)atC>atT	p.I41I	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2	A6NK44	GLOD5_HUMAN	glyoxalase domain containing 5	41										endometrium(1)|lung(2)	3						TTGACCACATCGTGATGACGG	0.463													C|||	5	0.0013245	0	0	3775	,	,		13405	0		0	False		,,,				2504	0.0051					ENST00000303227.6																			0				endometrium(1)|lung(2)	3						c.(121-123)atC>atT		glyoxalase domain containing 5							70	58	62					X																	48624299		1943	4123	6066	SO:0001819	synonymous_variant	392465							g.chrX:48624299C>T		CCDS55410.1	Xp11.23	2008-02-05			ENSG00000171433	ENSG00000171433			33358	protein-coding gene	gene with protein product							Standard	NM_001080489		Approved		uc011mmh.2	A6NK44	OTTHUMG00000024125	ENST00000303227.6:c.123C>T	X.37:g.48624299C>T			Somatic				GLOD5_ENST00000470676.1_3'UTR	p.I41I	NM_001080489.2	NP_001073958.2	WXS	Illumina GAIIx	Phase_I					2	164	+									Silent	SNP	ENST00000303227.6	37	c.123C>T	CCDS55410.1	.	.	.	.	.	.	.	.	.	.	c	9.113	1.007118	0.19199	.	.	ENSG00000171433	ENST00000445229	.	.	.	5.11	-9.77	0.00500	.	.	.	.	.	T	0.50292	0.1607	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61584	-0.7033	4	.	.	.	.	11.3148	0.49386	0.0:0.594:0.1807:0.2253	.	.	.	.	L	8	.	.	S	+	2	0	GLOD5	48509243	0.163000	0.22920	0.804000	0.32291	0.677000	0.39632	-1.201000	0.03026	-1.834000	0.01193	-0.381000	0.06696	TCG		0.463	GLOD5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080489		11	9	0	0	0	1	0	11	9					T	48624299	C	T	48624299	2	4	48	1	0	0	0	0	0	0	0	1	6459	874	31	1		1	GLOD5	23	48624299	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	74766	48624299	106646261	4466	8934										
HDAC6	10013	broad.mit.edu	37	chrX	48682971	48682971	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggctctcctagatgtgaaGaacatcgcccaccagaacaa	8	13	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48682971G>T	ENST00000334136.5	+	29	3775	c.3597G>T	c.(3595-3597)aaG>aaT	p.K1199N	HDAC6_ENST00000444343.2_Missense_Mutation_p.K1213N|HDAC6_ENST00000376619.2_Missense_Mutation_p.K1199N			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1199					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)			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)	TAGATGTGAAGAACATCGCCC	0.592																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			0				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.(3595-3597)aaG>aaT		histone deacetylase 6	Vorinostat(DB02546)						114	83	94					X																	48682971		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48682971G>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.3597G>T	X.37:g.48682971G>T	ENSP00000334061:p.Lys1199Asn		Somatic				HDAC6_ENST00000376619.2_Missense_Mutation_p.K1199N|HDAC6_ENST00000444343.2_Missense_Mutation_p.K1213N	p.K1199N			WXS	Illumina GAIIx	Phase_I	Q9UBN7	HDAC6_HUMAN			29	3775	+			1199					O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.3597G>T	CCDS14306.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.45|19.45	3.828989|3.828989	0.71258|0.71258	.|.	.|.	ENSG00000094631|ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619|ENST00000430858	T;T;T|.	0.31247|.	1.5;1.5;1.5|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Zinc finger, RING/FYVE/PHD-type (1);|.	0.104168|.	0.64402|.	D|.	0.000015|.	T|T	0.74207|0.74207	0.3686|0.3686	M|M	0.82323|0.82323	2.585|2.585	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|.	0.996;1.0;0.999;0.996|.	T|T	0.76274|0.76274	-0.3019|-0.3019	10|5	0.72032|.	D|.	0.01|.	-32.6785|-32.6785	9.5731|9.5731	0.39440|0.39440	0.0976:0.0:0.9024:0.0|0.0976:0.0:0.9024:0.0	.|.	1189;562;847;1199|.	B4DZN1;B3KY98;B3KVK5;Q9UBN7|.	.;.;.;HDAC6_HUMAN|.	N|I	1213;1199;1199|68	ENSP00000398566:K1213N;ENSP00000334061:K1199N;ENSP00000365804:K1199N|.	ENSP00000334061:K1199N|.	K|R	+|+	3|2	2|0	HDAC6|HDAC6	48567915|48567915	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.959000|0.959000	0.62525|0.62525	2.593000|2.593000	0.46180|0.46180	2.448000|2.448000	0.82819|0.82819	0.600000|0.600000	0.82982|0.82982	AAG|AGA		0.592	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		16	24	1	0	7.07596e-05	1	7.68259e-05	16	24					T	48682971	G	T	48682971	3	4	48	1	0	0	0	0	1	0	0	0	7020	933	33	2	3707	2	HDAC6	23	48682971	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	58672	48682971	106587589	4467	8935										
GRIPAP1	56850	broad.mit.edu	37	chrX	48839393	48839393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggcatcaccaactcacctCggcttccttcaagcgccgtt	7	17	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48839393C>T	ENST00000376441.1	-	17	1631	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K	GRIPAP1_ENST00000376423.4_Missense_Mutation_p.E480K|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E502K|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E488K|GRIPAP1_ENST00000473581.1_5'UTR	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	533						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CAACTCACCTCGGCTTCCTTC	0.557																																						ENST00000376423.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						c.(1438-1440)Gag>Aag		GRIP1 associated protein 1							82	62	69					X																	48839393		2203	4300	6503	SO:0001583	missense	56850					early endosome		g.chrX:48839393C>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.1597G>A	X.37:g.48839393C>T	ENSP00000365624:p.Glu533Lys		Somatic				GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E502K|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.E533K|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E488K|GRIPAP1_ENST00000473581.1_5'UTR	p.E480K	NM_207672.1	NP_997555.1	WXS	Illumina GAIIx	Phase_I	Q4V328	GRAP1_HUMAN			16	1470	-			533					A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.1438G>A	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	-	13.34	2.207914	0.39003	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	4.41	4.41	0.53225	.	0.000000	0.64402	U	0.000004	T	0.42765	0.1217	L	0.43923	1.385	0.40982	D	0.984787	D;D;D	0.76494	0.998;0.999;0.999	D;D;P	0.78314	0.932;0.991;0.845	T	0.23797	-1.0178	10	0.07644	T	0.81	-4.0765	15.0941	0.72220	0.0:1.0:0.0:0.0	.	480;423;533	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	K	502;488;533;502;480	ENSP00000365608:E502K;ENSP00000365627:E488K;ENSP00000365624:E533K;ENSP00000365606:E480K	ENSP00000365606:E480K	E	-	1	0	GRIPAP1	48724337	1.000000	0.71417	0.999000	0.59377	0.282000	0.26991	6.770000	0.74990	1.795000	0.52594	0.393000	0.25936	GAG		0.557	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		13	35	0	0	0	1	0	13	35					T	48839393	C	T	48839393	3	4	48	1	0	0	0	0	1	0	0	0	6798	893	31	1	1022	1	GRIPAP1	23	48839393	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	156422	48839393	106431167	4468	8936										
TFE3	7030	broad.mit.edu	37	chrX	48891263	48891263	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggttgtgattgtctttcttCtgccgttccttcaaaagggc	10	9	4	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48891263C>A	ENST00000315869.7	-	7	1297	c.1038G>T	c.(1036-1038)caG>caT	p.Q346H	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	346	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TGTCTTTCTTCTGCCGTTCCT	0.557			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"		"papillary renal, alveolar soft part sarcoma, renal"	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1036-1038)caG>caT		transcription factor binding to IGHM enhancer 3							111	90	97					X																	48891263		2203	4300	6503	SO:0001583	missense	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48891263C>A	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"Basic helix-loop-helix proteins"	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1038G>T	X.37:g.48891263C>A	ENSP00000314129:p.Gln346His		Somatic				TFE3_ENST00000493583.1_5'UTR	p.Q346H	NM_006521.4	NP_006512.2	WXS	Illumina GAIIx	Phase_I	P19532	TFE3_HUMAN			7	1297	-			346					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	c.1038G>T	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	c	17.14	3.314232	0.60414	.	.	ENSG00000068323	ENST00000315869	D	0.97598	-4.45	5.68	4.82	0.62117	Helix-loop-helix DNA-binding (3);	0.000000	0.85682	D	0.000000	D	0.97062	0.9040	M	0.84219	2.685	0.80722	D	1	P	0.37864	0.61	B	0.44163	0.443	D	0.96484	0.9358	10	0.87932	D	0	-12.5308	11.2258	0.48882	0.0:0.9094:0.0:0.0906	.	346	P19532	TFE3_HUMAN	H	346	ENSP00000314129:Q346H	ENSP00000314129:Q346H	Q	-	3	2	TFE3	48778207	1.000000	0.71417	0.952000	0.39060	0.992000	0.81027	3.098000	0.50259	1.159000	0.42565	0.462000	0.41574	CAG		0.557	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		10	19	1	0	0.00621372	1	0.0064192	10	19					A	48891263	C	A	48891263	3	1	48	1	0	0	0	0	1	0	0	0	15815	912	32	2	705	2	TFE3	23	48891263	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	51870	48891263	106379297	4469	8937										
PLP2	5355	broad.mit.edu	37	chrX	49029577	49029577	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctgctattttctttgttgtCtacatgtgtgacctgcacac	8	10	2	1	rs149039155		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49029577C>T	ENST00000376327.5	+	2	273	c.198C>T	c.(196-198)gtC>gtT	p.V66V	PLP2_ENST00000376322.3_Silent_p.V66V	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	66	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine binding (GO:0019956)|ion transmembrane transporter activity (GO:0015075)			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						TCTTTGTTGTCTACATGTGTG	0.512																																						ENST00000376327.5																			0				endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						c.(196-198)gtC>gtT		proteolipid protein 2 (colonic epithelium-enriched)		C		1,3834		0,1,1631,571	195	129	151		198	5.3	1	X	dbSNP_134	151	0,6728		0,0,2428,1872	no	coding-synonymous	PLP2	NM_002668.2		0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095		66/153	49029577	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	5355				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity	g.chrX:49029577C>T	L09604	CCDS14319.1	Xp11.23	2008-08-01			ENSG00000102007	ENSG00000102007			9087	protein-coding gene	gene with protein product	"A4 differentiation-dependent protein"	300112				8470895, 7622043	Standard	NM_002668		Approved	A4, A4-LSB, MGC126187	uc004dmx.3	Q04941	OTTHUMG00000021513	ENST00000376327.5:c.198C>T	X.37:g.49029577C>T			Somatic				PLP2_ENST00000376322.3_Silent_p.V66V	p.V66V	NM_002668.2	NP_002659.1	WXS	Illumina GAIIx	Phase_I	Q04941	PLP2_HUMAN			2	273	+			66			MARVEL.		A6NDT7|Q32MM8	Silent	SNP	ENST00000376327.5	37	c.198C>T	CCDS14319.1																																																																																				0.512	PLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056540.1	NM_002668		15	34	0	0	0	1	0	15	34					T	49029577	C	T	49029577	2	4	48	1	0	0	0	0	0	0	0	1	12114	900	32	3		3	PLP2	23	49029577	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	138314	49029577	106240983	4470	8938										
PRICKLE3	4007	broad.mit.edu	37	chrX	49032046	49032046	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccacgatgcagttcttgtcTcgggcctgacgaggcatccc	12	14	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49032046T>A	ENST00000376317.3	-	9	1918	c.1824A>T	c.(1822-1824)cgA>cgT	p.R608R	PRICKLE3_ENST00000540849.1_Silent_p.R540R|PRICKLE3_ENST00000536904.1_Silent_p.R527R|PRICKLE3_ENST00000538114.1_Silent_p.R432R	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	608							zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						AGTTCTTGTCTCGGGCCTGAC	0.622																																						ENST00000376317.3																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						c.(1822-1824)cgA>cgT		prickle homolog 3 (Drosophila)							39	38	39					X																	49032046		2203	4300	6503	SO:0001819	synonymous_variant	4007						protein binding|zinc ion binding	g.chrX:49032046T>A	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"LIM domain only 6"	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1824A>T	X.37:g.49032046T>A			Somatic				PRICKLE3_ENST00000536904.1_Silent_p.R527R|PRICKLE3_ENST00000538114.1_Silent_p.R432R|PRICKLE3_ENST00000540849.1_Silent_p.R540R	p.R608R	NM_006150.3	NP_006141.2	WXS	Illumina GAIIx	Phase_I	O43900	PRIC3_HUMAN			9	1918	-			608					B7Z8F2|O76007|Q53XR5	Silent	SNP	ENST00000376317.3	37	c.1824A>T	CCDS14320.1	.	.	.	.	.	.	.	.	.	.	-	6.407	0.443300	0.12164	.	.	ENSG00000012211	ENST00000453382	.	.	.	4.55	0.271	0.15640	.	0.000000	0.36628	N	0.002487	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.5243	2.2736	0.04096	0.2449:0.349:0.0:0.4061	.	.	.	.	X	621	.	.	R	-	1	2	PRICKLE3	48918990	0.947000	0.32204	0.626000	0.29213	0.472000	0.32918	-0.056000	0.11787	0.092000	0.17331	0.371000	0.22339	AGA		0.622	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		21	36	0	0	0	1	0	21	36					A	49032046	T	A	49032046	2	1	48	1	0	0	0	0	0	0	0	1	12500	1538	54	4		4	PRICKLE3	23	49032046	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2469	49032046	106238514	4471	8939										
CACNA1F	778	broad.mit.edu	37	chrX	49061728	49061728	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actggcagcattgtccatctCatccagcgtcaggcgacacg	10	14	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49061728C>A	ENST00000376265.2	-	48	5864	c.5803G>T	c.(5803-5805)Gag>Tag	p.E1935*	AF196779.1_ENST00000583131.1_RNA|CACNA1F_ENST00000376251.1_Nonsense_Mutation_p.E1870*|CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.E1924*|SYP-AS1_ENST00000433499.1_RNA	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1935					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGTCCATCTCATCCAGCGTC	0.592																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(5803-5805)Gag>Tag		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						95	55	69					X																	49061728		2203	4300	6503	SO:0001587	stop_gained	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49061728C>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5803G>T	X.37:g.49061728C>A	ENSP00000365441:p.Glu1935*		Somatic				CACNA1F_ENST00000376251.1_Nonsense_Mutation_p.E1870*|CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.E1924*	p.E1935*	NM_005183.2	NP_005174.2	WXS	Illumina GAIIx	Phase_I	O60840	CAC1F_HUMAN			48	5864	-			1935					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Nonsense_Mutation	SNP	ENST00000376265.2	37	c.5803G>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	45	11.548704	0.99574	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.4365	0.83877	0.0:1.0:0.0:0.0	.	.	.	.	X	1870;1924;1935	.	ENSP00000321618:E1924X	E	-	1	0	CACNA1F	48948672	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.779000	0.68948	2.223000	0.72356	0.529000	0.55759	GAG		0.592	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		14	30	1	0	4.93089e-13	1	6.29573e-13	14	30					A	49061728	C	A	49061728	4	1	48	1	0	0	0	0	0	1	0	0	2545	835	29	2	134	2	CACNA1F	23	49061728	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	29682	49061728	106208832	4472	8940										
CACNA1F	778	broad.mit.edu	37	chrX	49084859	49084859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggttcagcgtgcacgcacGccctgatcccgaagacgcac	11	16	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49084859G>A	ENST00000376265.2	-	7	929	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	CACNA1F_ENST00000376251.1_Missense_Mutation_p.R225C|CACNA1F_ENST00000323022.5_Missense_Mutation_p.R290C	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	290					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGCACGCACGCCCTGATCCC	0.617																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(868-870)Cgt>Tgt		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						50	40	44					X																	49084859		2202	4300	6502	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49084859G>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.868C>T	X.37:g.49084859G>A	ENSP00000365441:p.Arg290Cys		Somatic				CACNA1F_ENST00000376251.1_Missense_Mutation_p.R225C|CACNA1F_ENST00000323022.5_Missense_Mutation_p.R290C	p.R290C	NM_005183.2	NP_005174.2	WXS	Illumina GAIIx	Phase_I	O60840	CAC1F_HUMAN			7	929	-			290					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.868C>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907945	0.72868	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96802	-4.13;-4.07;-4.08	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98264	0.9425	M	0.92555	3.32	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98404	1.0569	10	0.41790	T	0.15	.	11.5847	0.50912	0.0:0.0:0.8215:0.1785	.	290;290	F5CIQ9;O60840	.;CAC1F_HUMAN	C	225;290;290	ENSP00000365427:R225C;ENSP00000321618:R290C;ENSP00000365441:R290C	ENSP00000321618:R290C	R	-	1	0	CACNA1F	48971803	1.000000	0.71417	0.325000	0.25375	0.015000	0.08874	5.420000	0.66441	2.114000	0.64651	0.436000	0.28706	CGT		0.617	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		15	18	0	0	0	1	0	15	18					A	49084859	G	A	49084859	3	1	48	1	0	0	0	0	1	0	0	0	2545	1087	38	1	5233	1	CACNA1F	23	49084859	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	23131	49084859	106185701	4473	8941										
AKAP4	8852	broad.mit.edu	37	chrX	49958138	49958138	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccactggttgaacagatttCtcttgacagctgagacaaag	9	9	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49958138C>A	ENST00000376056.2	-	5	1349	c.1199G>T	c.(1198-1200)aGa>aTa	p.R400I	AKAP4_ENST00000358526.2_Missense_Mutation_p.R409I|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.R400I|AKAP4_ENST00000376058.2_Intron					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GAACAGATTTCTCTTGACAGC	0.448																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(1198-1200)aGa>aTa		A kinase (PRKA) anchor protein 4							84	76	79					X																	49958138		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49958138C>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1199G>T	X.37:g.49958138C>A	ENSP00000365224:p.Arg400Ile		Somatic				AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.R400I|AKAP4_ENST00000358526.2_Missense_Mutation_p.R409I|AKAP4_ENST00000481402.1_5'UTR	p.R400I			WXS	Illumina GAIIx	Phase_I	Q5JQC9	AKAP4_HUMAN			5	1349	-	Ovarian(276;0.236)		409						Missense_Mutation	SNP	ENST00000376056.2	37	c.1199G>T	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338501	0.60963	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.14893	2.47;2.47;2.47	4.6	4.6	0.57074	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.53938	D	0.000052	T	0.41213	0.1149	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.30387	-0.9980	9	.	.	.	-21.7807	12.0313	0.53399	0.0:1.0:0.0:0.0	.	409	Q5JQC9	AKAP4_HUMAN	I	400;409;400	ENSP00000365224:R400I;ENSP00000351327:R409I;ENSP00000365232:R400I	.	R	-	2	0	AKAP4	49844878	0.856000	0.29760	0.999000	0.59377	0.900000	0.52787	1.356000	0.34079	1.881000	0.54492	0.468000	0.43344	AGA		0.448	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		18	49	1	0	6.49762e-13	1	8.24929e-13	18	49					A	49958138	C	A	49958138	3	1	48	1	0	0	0	0	1	0	0	0	453	913	32	2	1346	2	AKAP4	23	49958138	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	873279	49958138	105312422	4474	8942										
CCNB3	85417	broad.mit.edu	37	chrX	50053473	50053473	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgaagaagcagttggctttGaatgagaccatcaatgaaga	11	6	1	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:50053473G>T	ENST00000376042.1	+	6	2602	c.2304G>T	c.(2302-2304)ttG>ttT	p.L768F	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.L768F			Q8WWL7	CCNB3_HUMAN	cyclin B3	768					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGTTGGCTTTGAATGAGACCA	0.458																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2302-2304)ttG>ttT		cyclin B3							28	24	25					X																	50053473		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50053473G>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2304G>T	X.37:g.50053473G>T	ENSP00000365210:p.Leu768Phe		Somatic				CCNB3_ENST00000276014.7_Missense_Mutation_p.L768F|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron	p.L768F			WXS	Illumina GAIIx	Phase_I	Q8WWL7	CCNB3_HUMAN			6	2602	+	Ovarian(276;0.236)		768					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.2304G>T	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011958	0.35511	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.37058	1.22;1.22	4.19	2.36	0.29203	.	.	.	.	.	T	0.32912	0.0845	M	0.63843	1.955	0.09310	N	1	P	0.41673	0.759	B	0.40565	0.333	T	0.17961	-1.0352	8	.	.	.	.	4.7164	0.12898	0.1237:0.2195:0.6568:0.0	.	768	Q8WWL7	CCNB3_HUMAN	F	768	ENSP00000365210:L768F;ENSP00000276014:L768F	.	L	+	3	2	CCNB3	50070213	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.105000	0.15333	0.500000	0.27991	0.600000	0.82982	TTG		0.458	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			6	15	1	0	3.59834e-05	1	3.93264e-05	6	15					T	50053473	G	T	50053473	3	4	48	1	0	0	0	0	1	0	0	0	2916	1281	45	2	2318	2	CCNB3	23	50053473	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	95335	50053473	105217087	4475	8943										
DGKK	139189	broad.mit.edu	37	chrX	50129446	50129446	+	RNA	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttgcacttggctatgtggtCtatttgaggaatgaagggct	13	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:50129446C>A	ENST00000376025.2	-	0	2316							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GCTATGTGGTCTATTTGAGGA	0.473																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							163	136	145					X																	50129446		2026	4182	6208			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50129446C>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50129446C>A			Somatic								WXS	Illumina GAIIx	Phase_I	Q5KSL6	DGKK_HUMAN			0	2316	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.473	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		19	38	1	0	1.00905e-13	1	1.29777e-13	19	38					A	50129446	C	A	50129446	1	1	48	0	1	0	0	0	0	0	0	0	4474	913	32	2		2	DGKK	23	50129446	RNA	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	75973	50129446	105141114	4476	8944										
DGKK	139189	broad.mit.edu	37	chrX	50167262	50167262	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttaccgcgggatggtgtgcaAagtagagcttctgtccttga	13	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:50167262A>C	ENST00000376025.2	-	0	799							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATGGTGTGCAAAGTAGAGCTT	0.403																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							153	133	140					X																	50167262		1884	4101	5985			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50167262A>C	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50167262A>C			Somatic								WXS	Illumina GAIIx	Phase_I	Q5KSL6	DGKK_HUMAN			0	799	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.403	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		6	44	0	0	0	1	0	6	44					C	50167262	A	C	50167262	1	2	48	0	1	0	0	0	0	0	0	0	4474	14	1	4		4	DGKK	23	50167262	RNA	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	37816	50167262	105103298	4477	8945										
SHROOM4	57477	broad.mit.edu	37	chrX	50339755	50339755	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catttgagttgctcttccccGagcttgatcttctcctccag	7	14	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:50339755G>A	ENST00000289292.7	-	9	4705	c.4422C>T	c.(4420-4422)ctC>ctT	p.L1474L	SHROOM4_ENST00000376020.2_Silent_p.L1474L|SHROOM4_ENST00000460112.3_Silent_p.L1358L|SHROOM4_ENST00000483955.1_5'Flank			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1474	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCTCTTCCCCGAGCTTGATCT	0.522																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(4420-4422)ctC>ctT		shroom family member 4							78	61	67					X																	50339755		2203	4300	6503	SO:0001819	synonymous_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50339755G>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.4422C>T	X.37:g.50339755G>A			Somatic				SHROOM4_ENST00000460112.3_Silent_p.L1358L|SHROOM4_ENST00000289292.7_Silent_p.L1474L	p.L1474L	NM_020717.3	NP_065768.2	WXS	Illumina GAIIx	Phase_I	Q9ULL8	SHRM4_HUMAN			9	4447	-	Ovarian(276;0.236)		1474			ASD2.		A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	c.4422C>T	CCDS35277.1																																																																																				0.522	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		14	36	0	0	0	1	0	14	36					A	50339755	G	A	50339755	2	1	48	1	0	0	0	0	0	0	0	1	14311	1045	37	1		1	SHROOM4	23	50339755	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	172493	50339755	104930805	4478	8946										
SHROOM4	57477	broad.mit.edu	37	chrX	50377889	50377889	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatgtggaggtctgccaaaaGaagccttagctagctctgca	12	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:50377889G>T	ENST00000289292.7	-	4	1467	c.1184C>A	c.(1183-1185)tCt>tAt	p.S395Y	SHROOM4_ENST00000376020.2_Missense_Mutation_p.S395Y|SHROOM4_ENST00000460112.3_Missense_Mutation_p.S279Y			Q9ULL8	SHRM4_HUMAN	shroom family member 4	395					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCTGCCAAAAGAAGCCTTAGC	0.552																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1183-1185)tCt>tAt		shroom family member 4							42	28	33					X																	50377889		2203	4299	6502	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377889G>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1184C>A	X.37:g.50377889G>T	ENSP00000289292:p.Ser395Tyr		Somatic				SHROOM4_ENST00000460112.3_Missense_Mutation_p.S279Y|SHROOM4_ENST00000289292.7_Missense_Mutation_p.S395Y	p.S395Y	NM_020717.3	NP_065768.2	WXS	Illumina GAIIx	Phase_I	Q9ULL8	SHRM4_HUMAN			4	1209	-	Ovarian(276;0.236)		395					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.1184C>A	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	6.372	0.436752	0.12104	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.47177	0.85;0.85;0.85	4.9	-0.17	0.13335	.	1.262500	0.05204	N	0.505541	T	0.40423	0.1116	L	0.57536	1.79	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20107	-1.0285	10	0.27785	T	0.31	.	3.802	0.08761	0.2709:0.0:0.4393:0.2898	.	395	Q9ULL8	SHRM4_HUMAN	Y	395;395;279	ENSP00000289292:S395Y;ENSP00000365188:S395Y;ENSP00000421450:S279Y	ENSP00000289292:S395Y	S	-	2	0	SHROOM4	50394629	0.000000	0.05858	0.000000	0.03702	0.824000	0.46624	0.400000	0.20932	0.135000	0.18707	0.600000	0.82982	TCT		0.552	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		10	15	1	0	0.000442599	1	0.00046913	10	15					T	50377889	G	T	50377889	3	4	48	1	0	0	0	0	1	0	0	0	14311	942	33	2	3321	2	SHROOM4	23	50377889	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	38134	50377889	104892671	4479	8947										
SSX7	280658	broad.mit.edu	37	chrX	52681946	52681946	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagtcatggcctcatactttCtcttcatatacacatagctg	5	11	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:52681946C>A	ENST00000298181.5	-	3	316	c.158G>T	c.(157-159)aGa>aTa	p.R53I		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	53	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					CTCATACTTTCTCTTCATATA	0.393																																						ENST00000298181.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16						c.(157-159)aGa>aTa		synovial sarcoma, X breakpoint 7							154	119	131					X																	52681946		2203	4299	6502	SO:0001583	missense	280658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:52681946C>A	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.158G>T	X.37:g.52681946C>A	ENSP00000298181:p.Arg53Ile		Somatic					p.R53I	NM_173358.2	NP_775494.1	WXS	Illumina GAIIx	Phase_I	Q7RTT5	SSX7_HUMAN			3	316	-	Ovarian(276;0.236)		53			KRAB-related.			Missense_Mutation	SNP	ENST00000298181.5	37	c.158G>T	CCDS14343.1	.	.	.	.	.	.	.	.	.	.	N	0.032	-1.330920	0.01298	.	.	ENSG00000187754	ENST00000298181	T	0.00848	5.62	0.56	-1.12	0.09808	Krueppel-associated box (2);Krueppel-associated box-related (1);	0.119136	0.38778	N	0.001578	T	0.00784	0.0026	L	0.38953	1.18	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.55244	-0.8171	9	0.62326	D	0.03	.	.	.	.	.	53	Q7RTT5	SSX7_HUMAN	I	53	ENSP00000298181:R53I	ENSP00000298181:R53I	R	-	2	0	SSX7	52698671	0.305000	0.24481	0.003000	0.11579	0.003000	0.03518	-0.091000	0.11146	-3.608000	0.00133	-3.537000	0.00031	AGA		0.393	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358		36	66	1	0	6.97489e-18	1	9.40748e-18	36	66					A	52681946	C	A	52681946	3	1	48	1	0	0	0	0	1	0	0	0	15224	913	32	2	428	2	SSX7	23	52681946	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2304057	52681946	102588614	4480	8948										
HUWE1	10075	broad.mit.edu	37	chrX	53562435	53562435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cccattgggtttgaggtcacGaacttcacaaactccaaact	7	12	2	1	rs121918527		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:53562435G>A	ENST00000342160.3	-	80	13016	c.12559C>T	c.(12559-12561)Cgt>Tgt	p.R4187C	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4187C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4187	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.		R -> C (in MRXS-Turner). {ECO:0000269|PubMed:18252223}.		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						TTGAGGTCACGAACTTCACAA	0.438																																						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	GRCh37	CM081661	HUWE1	M	rs121918527	c.(12559-12561)Cgt>Tgt		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							165	125	139					X																	53562435		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:53562435G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12559C>T	X.37:g.53562435G>A	ENSP00000340648:p.Arg4187Cys		Somatic				HUWE1_ENST00000262854.6_Missense_Mutation_p.R4187C	p.R4187C			WXS	Illumina GAIIx	Phase_I	Q7Z6Z7	HUWE1_HUMAN			80	13016	-			4187		R -> C (in MRXS-Turner).	HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.12559C>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.98|13.98	2.397590|2.397590	0.42512|0.42512	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.57752|.	0.38;0.38|.	5.39|5.39	5.39|5.39	0.77823|0.77823	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86049|0.86049	0.5840|0.5840	M|M	0.92555|0.92555	3.32|3.32	0.80722|0.80722	A|A	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.79108|.	0.992;0.986|.	D|D	0.89519|0.89519	0.3777|0.3777	9|4	0.38643|.	T|.	0.18|.	.|.	17.1547|17.1547	0.86788|0.86788	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4187;4171|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	C|L	4187|3220;1009	ENSP00000340648:R4187C;ENSP00000262854:R4187C|.	ENSP00000262854:R4187C|.	R|S	-|-	1|2	0|0	HUWE1|HUWE1	53579160|53579160	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.802000|6.802000	0.75175|0.75175	2.403000|2.403000	0.81681|0.81681	0.600000|0.600000	0.82982|0.82982	CGT|TCG		0.438	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		12	25	0	0	0	1	0	12	25					A	53562435	G	A	53562435	3	1	48	1	0	0	0	0	1	0	0	0	7470	1058	37	1	581	1	HUWE1	23	53562435	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	880489	53562435	101708125	4481	8949										
HUWE1	10075	broad.mit.edu	37	chrX	53574798	53574798	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggcagtggtggtggtggtaGatgtggttgaggtggcagtg	22	3	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:53574798G>T	ENST00000342160.3	-	67	10929	c.10472C>A	c.(10471-10473)tCt>tAt	p.S3491Y	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.S3491Y			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3491	Thr-rich.				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						ggtggtggtagatgtggttga	0.587																																						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.(10471-10473)tCt>tAt		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							99	76	84					X																	53574798		2203	4298	6501	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:53574798G>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10472C>A	X.37:g.53574798G>T	ENSP00000340648:p.Ser3491Tyr		Somatic				HUWE1_ENST00000262854.6_Missense_Mutation_p.S3491Y|HUWE1_ENST00000474288.1_5'UTR	p.S3491Y			WXS	Illumina GAIIx	Phase_I	Q7Z6Z7	HUWE1_HUMAN			67	10929	-			3491			Thr-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.10472C>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	-	12.03	1.815846	0.32145	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.37752	1.18;1.18	5.23	5.23	0.72850	.	1.050840	0.07519	N	0.910324	T	0.27663	0.0680	N	0.08118	0	0.32122	N	0.587838	B;B	0.31351	0.214;0.32	B;B	0.31812	0.064;0.136	T	0.37526	-0.9702	10	0.62326	D	0.03	.	16.6725	0.85271	0.0:0.0:1.0:0.0	.	3491;3475	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	Y	3491	ENSP00000340648:S3491Y;ENSP00000262854:S3491Y	ENSP00000262854:S3491Y	S	-	2	0	HUWE1	53591523	0.988000	0.35896	1.000000	0.80357	0.994000	0.84299	6.647000	0.74354	2.195000	0.70347	0.502000	0.49764	TCT		0.587	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		10	22	1	0	0.00621372	1	0.0064192	10	22					T	53574798	G	T	53574798	3	4	48	1	0	0	0	0	1	0	0	0	7470	942	33	2	2720	2	HUWE1	23	53574798	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	12363	53574798	101695762	4482	8950										
WNK3	65267	broad.mit.edu	37	chrX	54277993	54277993	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttggagtccacagtaataGaatcaactccagtggctctt	9	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:54277993G>T	ENST00000375159.2	-	13	2494	c.2495C>A	c.(2494-2496)tCt>tAt	p.S832Y	WNK3_ENST00000354646.2_Missense_Mutation_p.S832Y|WNK3_ENST00000375169.3_Missense_Mutation_p.S832Y			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	832					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CACAGTAATAGAATCAACTCC	0.378																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2494-2496)tCt>tAt		WNK lysine deficient protein kinase 3							80	75	77					X																	54277993		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:54277993G>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.2495C>A	X.37:g.54277993G>T	ENSP00000364301:p.Ser832Tyr		Somatic				WNK3_ENST00000375159.2_Missense_Mutation_p.S832Y|WNK3_ENST00000375169.3_Missense_Mutation_p.S832Y	p.S832Y	NM_020922.4	NP_065973.2	WXS	Illumina GAIIx	Phase_I	Q9BYP7	WNK3_HUMAN			14	2933	-			832					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.2495C>A	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	8.617	0.890480	0.17613	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.30981	1.51;1.51;1.51	5.31	1.39	0.22231	.	0.603523	0.15745	N	0.246708	T	0.23492	0.0568	L	0.32530	0.975	0.09310	N	1	P;P	0.42620	0.785;0.679	B;B	0.42422	0.387;0.216	T	0.09037	-1.0693	10	0.66056	D	0.02	2.2802	7.2352	0.26066	0.1583:0.2675:0.5743:0.0	.	832;832	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Y	832	ENSP00000364312:S832Y;ENSP00000346667:S832Y;ENSP00000364301:S832Y	ENSP00000346667:S832Y	S	-	2	0	WNK3	54294718	0.001000	0.12720	0.001000	0.08648	0.460000	0.32559	0.852000	0.27764	0.094000	0.17404	0.422000	0.28245	TCT		0.378	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		11	21	1	0	3.07112e-06	1	3.42433e-06	11	21					T	54277993	G	T	54277993	3	4	48	1	0	0	0	0	1	0	0	0	17394	942	33	2	2951	2	WNK3	23	54277993	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	703195	54277993	100992567	4483	8951										
ITIH5L	347365	broad.mit.edu	37	chrX	54785156	54785156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcagtgtcctcatatatgcGccgggctattccccggtttt	9	12	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:54785156G>A	ENST00000218436.6	-	8	1380	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	451	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TCATATATGCGCCGGGCTATT	0.577																																						ENST00000218436.6																			0											c.(1351-1353)Cgc>Tgc		inter-alpha-trypsin inhibitor heavy chain family, member 6							46	42	44					X																	54785156		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54785156G>A	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.1351C>T	X.37:g.54785156G>A	ENSP00000218436:p.Arg451Cys		Somatic					p.R451C	NM_198510.2	NP_940912.1	WXS	Illumina GAIIx	Phase_I	Q6UXX5	ITH5L_HUMAN			8	1380	-			451			VWFA.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.1351C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	4.720	0.133954	0.09032	.	.	ENSG00000102313	ENST00000218436	T	0.14144	2.53	3.66	0.549	0.17213	von Willebrand factor, type A (3);	0.148173	0.39759	U	0.001262	T	0.16300	0.0392	L	0.58969	1.84	0.09310	N	1	P	0.52692	0.955	P	0.49361	0.608	T	0.09164	-1.0687	10	0.66056	D	0.02	.	4.604	0.12368	0.2151:0.0:0.6125:0.1725	.	451	Q6UXX5	ITH5L_HUMAN	C	451	ENSP00000218436:R451C	ENSP00000218436:R451C	R	-	1	0	ITIH5L	54801881	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.470000	0.22084	0.002000	0.14630	-0.196000	0.12772	CGC		0.577	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		19	37	0	0	0	1	0	19	37					A	54785156	G	A	54785156	3	1	48	1	0	0	0	0	1	0	0	0	7917	1087	38	1	2614	1	ITIH5L	23	54785156	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	507163	54785156	100485404	4484	8952										
TRO	7216	broad.mit.edu	37	chrX	54953058	54953058	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caagttggggctgcgccctgGgtatgactgggctctctcag	15	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:54953058G>T	ENST00000173898.7	+	9	1812	c.1700G>T	c.(1699-1701)gGg>gTg	p.G567V	TRO_ENST00000375041.2_Splice_Site_p.G170V|TRO_ENST00000375022.4_Splice_Site_p.G567V|TRO_ENST00000319167.8_Splice_Site_p.G567V|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Splice_Site_p.G98V|TRO_ENST00000399736.1_Splice_Site_p.G170V	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	567	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CTGCGCCCTGGGTATGACTGG	0.577																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.e9+1		trophinin							131	120	124					X																	54953058		2203	4300	6503	SO:0001630	splice_region_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54953058G>T	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1700+1G>T	X.37:g.54953058G>T			Somatic				TRO_ENST00000319167.8_Splice_Site_p.G567_splice|TRO_ENST00000420798.2_Splice_Site_p.G98_splice|TRO_ENST00000375022.4_Splice_Site_p.G567_splice|TRO_ENST00000399736.1_Splice_Site_p.G170_splice|TRO_ENST00000375041.2_Splice_Site_p.G170_splice	p.G567_splice	NM_001039705.1	NP_001034794.1	WXS	Illumina GAIIx	Phase_I	Q12816	TROP_HUMAN			9	1812	+			567			MAGE.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Splice_Site	SNP	ENST00000173898.7	37	c.1700_splice	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213550	0.39102	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.05513	3.43;3.43;3.43;3.43;3.43;3.43	2.92	2.04	0.26737	.	.	.	.	.	T	0.26521	0.0648	M	0.91140	3.18	0.54753	D	0.999985	D;D;D;D	0.89917	0.999;0.983;1.0;1.0	D;P;D;D	0.81914	0.975;0.886;0.995;0.987	T	0.01684	-1.1296	9	0.87932	D	0	.	7.206	0.25907	0.1424:0.0:0.8576:0.0	.	170;170;567;567	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	V	567;567;567;170;170;98;170	ENSP00000173898:G567V;ENSP00000318278:G567V;ENSP00000364162:G567V;ENSP00000382641:G170V;ENSP00000405126:G98V;ENSP00000364181:G170V	ENSP00000173898:G567V	G	+	2	0	TRO	54969783	1.000000	0.71417	0.998000	0.56505	0.686000	0.39977	2.510000	0.45468	0.623000	0.30267	0.513000	0.50165	GGG		0.577	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157	Missense_Mutation	46	104	1	0	1.15181e-12	1	1.45902e-12	46	104					T	54953058	G	T	54953058	5	4	48	1	0	0	0	0	0	0	1	0	16589	1246	43	5	1730	5	TRO	23	54953058	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	167902	54953058	100317502	4485	8953										
PFKFB1	5207	broad.mit.edu	37	chrX	54978379	54978379	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccagagtcacctccgatgcGgcctctgatgttgagttcac	11	13	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:54978379G>A	ENST00000375006.3	-	8	875	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C	PFKFB1_ENST00000545676.1_Missense_Mutation_p.R204C|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	269	Fructose-2,6-bisphosphatase.				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						CCTCCGATGCGGCCTCTGATG	0.587																																						ENST00000375006.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(805-807)Cgc>Tgc		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1							122	76	92					X																	54978379		2203	4300	6503	SO:0001583	missense	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:54978379G>A		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.805C>T	X.37:g.54978379G>A	ENSP00000364145:p.Arg269Cys		Somatic				PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Missense_Mutation_p.R204C	p.R269C	NM_002625.2	NP_002616.2	WXS	Illumina GAIIx	Phase_I	P16118	F261_HUMAN			8	875	-			269			Fructose-2,6-bisphosphatase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	c.805C>T	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813534	0.70912	.	.	ENSG00000158571	ENST00000375006;ENST00000545676	T;T	0.74632	-0.86;-0.86	4.53	3.59	0.41128	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.83686	0.5308	M	0.88570	2.965	0.80722	D	1	D;P	0.63880	0.993;0.794	P;B	0.57009	0.811;0.135	D	0.86084	0.1546	10	0.66056	D	0.02	-12.7247	10.1881	0.43011	0.0:0.0:0.6712:0.3288	.	204;269	B4DUN5;P16118	.;F261_HUMAN	C	269;204	ENSP00000364145:R269C;ENSP00000444074:R204C	ENSP00000364145:R269C	R	-	1	0	PFKFB1	54995104	0.919000	0.31177	1.000000	0.80357	0.939000	0.58152	1.507000	0.35758	2.015000	0.59207	0.519000	0.50382	CGC		0.587	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			8	19	0	0	0	1	0	8	19					A	54978379	G	A	54978379	3	1	48	1	0	0	0	0	1	0	0	0	11769	1116	39	1	638	1	PFKFB1	23	54978379	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	25321	54978379	100292181	4486	8954										
ALAS2	212	broad.mit.edu	37	chrX	55042056	55042056	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttatgcataattccatcacGctccccaatcccagcgcccc	4	19	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:55042056G>A	ENST00000330807.5	-	8	1260	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	ALAS2_ENST00000335854.4_Missense_Mutation_p.R338C|ALAS2_ENST00000396198.3_Missense_Mutation_p.R362C|ALAS2_ENST00000498636.1_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	375			R -> C (in XLSA; significantly reduced activity). {ECO:0000269|PubMed:21309041}.		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)	p.R375C(1)|p.R362C(1)		central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	ATTCCATCACGCTCCCCAATC	0.522																																						ENST00000330807.5																			2	Substitution - Missense(2)	p.R375C(1)|p.R362C(1)	kidney(2)	central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(1123-1125)Cgt>Tgt		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						95	83	87					X																	55042056		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:55042056G>A		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.1123C>T	X.37:g.55042056G>A	ENSP00000332369:p.Arg375Cys		Somatic				ALAS2_ENST00000396198.3_Missense_Mutation_p.R362C|ALAS2_ENST00000335854.4_Missense_Mutation_p.R338C|ALAS2_ENST00000498636.1_5'UTR	p.R375C	NM_000032.4	NP_000023.2	WXS	Illumina GAIIx	Phase_I	P22557	HEM0_HUMAN			8	1260	-			375					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.1123C>T	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812052	0.70797	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.91577	-2.87;-2.87;-2.87	5.75	5.75	0.90469	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96815	0.8960	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	D	0.97583	1.0112	10	0.87932	D	0	-8.2479	12.8942	0.58089	0.0:0.0:0.8374:0.1625	.	338;362;375	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	C	375;362;338	ENSP00000332369:R375C;ENSP00000379501:R362C;ENSP00000337131:R338C	ENSP00000332369:R375C	R	-	1	0	ALAS2	55058781	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.161000	0.64935	2.576000	0.86940	0.594000	0.82650	CGT		0.522	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		34	41	0	0	0	1	0	34	41					A	55042056	G	A	55042056	3	1	48	1	0	0	0	0	1	0	0	0	485	1087	38	1	656	1	ALAS2	23	55042056	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	63677	55042056	100228504	4487	8955										
PAGE2B	389860	broad.mit.edu	37	chrX	55102524	55102524	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcctcagaaagaggaaatgAccaagagtcttcccagccag	9	11	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:55102524A>G	ENST00000374971.1	+	2	102	c.50A>G	c.(49-51)gAc>gGc	p.D17G	PAGE2B_ENST00000374974.3_Missense_Mutation_p.D17G	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	17										lung(3)	3						AGAGGAAATGACCAAGAGTCT	0.343																																						ENST00000374971.1																			0				lung(3)	3						c.(49-51)gAc>gGc		P antigen family, member 2B							124	104	111					X																	55102524		2203	4300	6503	SO:0001583	missense	389860							g.chrX:55102524A>G		CCDS35304.1	Xp11.22	2009-06-17			ENSG00000238269	ENSG00000238269			31805	protein-coding gene	gene with protein product							Standard	NM_001015038		Approved	CT16.5	uc004due.4	Q5JRK9	OTTHUMG00000021645	ENST00000374971.1:c.50A>G	X.37:g.55102524A>G	ENSP00000364110:p.Asp17Gly		Somatic				PAGE2B_ENST00000374974.3_Missense_Mutation_p.D17G	p.D17G	NM_001015038.1	NP_001015038.1	WXS	Illumina GAIIx	Phase_I	Q5JRK9	GGEE3_HUMAN			2	102	+			17					A1L414	Missense_Mutation	SNP	ENST00000374971.1	37	c.50A>G	CCDS35304.1	.	.	.	.	.	.	.	.	.	.	a	11.16	1.556303	0.27827	.	.	ENSG00000238269	ENST00000374974;ENST00000374971;ENST00000453343	T;T	0.10960	2.82;2.82	1.16	-2.25	0.06888	.	.	.	.	.	T	0.09468	0.0233	L	0.39898	1.24	0.09310	N	1	P	0.44380	0.834	P	0.46825	0.528	T	0.14420	-1.0473	9	0.38643	T	0.18	.	1.4135	0.02296	0.4189:0.0:0.2556:0.3255	.	17	Q5JRK9	GGEE3_HUMAN	G	17	ENSP00000364113:D17G;ENSP00000364110:D17G	ENSP00000364110:D17G	D	+	2	0	PAGE2B	55119249	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-0.825000	0.04433	-0.724000	0.04908	0.238000	0.17879	GAC		0.343	PAGE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056849.1	XM_372224		14	33	0	0	0	1	0	14	33					G	55102524	A	G	55102524	3	3	48	1	0	0	0	0	1	0	0	0	11400	275	10	4	52	4	PAGE2B	23	55102524	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	60468	55102524	100168036	4488	8956										
MAGEH1	28986	broad.mit.edu	37	chrX	55479290	55479290	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtccggtggagtatgagttCttctgggggccccgagcaca	15	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:55479290C>A	ENST00000342972.1	+	1	753	c.483C>A	c.(481-483)ttC>ttA	p.F161L	hsa-mir-4536-2_ENST00000583537.1_RNA	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	161	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						AGTATGAGTTCTTCTGGGGGC	0.502																																						ENST00000342972.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						c.(481-483)ttC>ttA		melanoma antigen family H, 1							92	89	90					X																	55479290		2203	4300	6503	SO:0001583	missense	28986				apoptosis			g.chrX:55479290C>A	AF320912	CCDS14369.1	Xp11.22	2008-02-05			ENSG00000187601	ENSG00000187601			24092	protein-coding gene	gene with protein product		300548				12414813, 9485030	Standard	NM_014061		Approved	APR1	uc004dum.3	Q9H213	OTTHUMG00000021655	ENST00000342972.1:c.483C>A	X.37:g.55479290C>A	ENSP00000343706:p.Phe161Leu		Somatic					p.F161L	NM_014061.3	NP_054780.2	WXS	Illumina GAIIx	Phase_I	Q9H213	MAGH1_HUMAN			1	753	+			161			MAGE.		B2R8V9|Q5JRJ3|Q9Y5M2	Missense_Mutation	SNP	ENST00000342972.1	37	c.483C>A	CCDS14369.1	.	.	.	.	.	.	.	.	.	.	.	11.40	1.627872	0.28978	.	.	ENSG00000187601	ENST00000342972	T	0.05649	3.41	3.17	1.38	0.22167	.	0.000000	0.35407	N	0.003225	T	0.12433	0.0302	L	0.48218	1.51	0.27036	N	0.964123	D	0.55605	0.972	D	0.64687	0.928	T	0.05084	-1.0907	10	0.51188	T	0.08	-0.2653	5.0055	0.14286	0.0:0.7028:0.0:0.2972	.	161	Q9H213	MAGH1_HUMAN	L	161	ENSP00000343706:F161L	ENSP00000343706:F161L	F	+	3	2	MAGEH1	55496015	0.995000	0.38212	0.806000	0.32338	0.001000	0.01503	0.091000	0.15046	0.239000	0.21243	-0.213000	0.12676	TTC		0.502	MAGEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056868.1	NM_014061		43	80	1	0	6.2361e-21	1	8.5756e-21	43	80					A	55479290	C	A	55479290	3	1	48	1	0	0	0	0	1	0	0	0	9197	912	32	2	485	2	MAGEH1	23	55479290	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	376766	55479290	99791270	4489	8957										
FAAH2	158584	broad.mit.edu	37	chrX	57407418	57407418	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aacatgatggaggctcatttTtaatgtccaaagtggaccaa	9	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:57407418T>G	ENST00000374900.4	+	7	1072	c.952T>G	c.(952-954)Tta>Gta	p.L318V		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	318						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						AGGCTCATTTTTAATGTCCAA	0.294										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(952-954)Tta>Gta		fatty acid amide hydrolase 2							64	65	65					X																	57407418		2202	4293	6495	SO:0001583	missense	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57407418T>G	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"amidase domain containing"	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.952T>G	X.37:g.57407418T>G	ENSP00000364035:p.Leu318Val	HNSCC(52;0.14)	Somatic					p.L318V	NM_174912.3	NP_777572.2	WXS	Illumina GAIIx	Phase_I	Q6GMR7	FAAH2_HUMAN			7	1072	+			318					Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	c.952T>G	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	T	9.516	1.107099	0.20714	.	.	ENSG00000165591	ENST00000374900	T	0.54479	0.57	1.73	1.73	0.24493	Amidase signature domain (2);	0.514986	0.17318	U	0.178604	T	0.48768	0.1518	M	0.69358	2.11	0.31588	N	0.65426	B	0.25719	0.132	B	0.33196	0.159	T	0.54302	-0.8314	10	0.49607	T	0.09	.	5.4949	0.16797	0.0:0.0:0.0:1.0	.	318	Q6GMR7	FAAH2_HUMAN	V	318	ENSP00000364035:L318V	ENSP00000364035:L318V	L	+	1	2	FAAH2	57424143	0.855000	0.29742	0.903000	0.35520	0.720000	0.41350	0.939000	0.28978	0.649000	0.30751	0.437000	0.28790	TTA		0.294	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		34	47	0	0	0	1	0	34	47					G	57407418	T	G	57407418	3	3	48	1	0	0	0	0	1	0	0	0	5359	1838	64	4	978	4	FAAH2	23	57407418	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1928128	57407418	97863142	4490	8958										
ZXDA	7789	broad.mit.edu	37	chrX	57935107	57935107	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttcactgctgggtgtaagaGaatttgctgcttctagctga	12	7	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:57935107G>T	ENST00000358697.4	-	1	1960	c.1748C>A	c.(1747-1749)tCt>tAt	p.S583Y		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	583	Required for transcriptional activation.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GGGTGTAAGAGAATTTGCTGC	0.453																																						ENST00000358697.4																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(1747-1749)tCt>tAt		zinc finger, X-linked, duplicated A							183	156	165					X																	57935107		2186	4296	6482	SO:0001583	missense	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935107G>T	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"Zinc fingers, C2H2-type"	13198	protein-coding gene	gene with protein product	"zinc finger protein 896"	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1748C>A	X.37:g.57935107G>T	ENSP00000351530:p.Ser583Tyr		Somatic					p.S583Y	NM_007156.4	NP_009087.1	WXS	Illumina GAIIx	Phase_I	P98168	ZXDA_HUMAN			1	1960	-			583			Required for transcriptional activation.		Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.1748C>A	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	15.76	2.928739	0.52759	.	.	ENSG00000198205	ENST00000358697	T	0.10382	2.88	3.15	3.15	0.36227	.	0.248814	0.40385	N	0.001106	T	0.22360	0.0539	L	0.61218	1.895	0.47276	D	0.99937	P	0.51147	0.942	P	0.57324	0.818	T	0.00998	-1.1486	9	.	.	.	.	11.4162	0.49954	0.0:0.0:1.0:0.0	.	583	P98168	ZXDA_HUMAN	Y	583	ENSP00000351530:S583Y	.	S	-	2	0	ZXDA	57951832	1.000000	0.71417	0.955000	0.39395	0.954000	0.61252	4.293000	0.59037	1.827000	0.53221	0.415000	0.27848	TCT		0.453	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		46	98	1	0	2.24722e-20	1	3.07898e-20	46	98					T	57935107	G	T	57935107	3	4	48	1	0	0	0	0	1	0	0	0	18265	942	33	2	655	2	ZXDA	23	57935107	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	527689	57935107	97335453	4491	8959										
ARHGEF9	23229	broad.mit.edu	37	chrX	62893985	62893985	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctctaaacgtcgcttgcgtTcgttgatctgctgagtcaca	9	11	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:62893985T>G	ENST00000253401.6	-	6	1657	c.857A>C	c.(856-858)gAa>gCa	p.E286A	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.E284A|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.E57A|ARHGEF9-IT1_ENST00000420917.1_RNA|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.E265A|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.E233A|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.E184A	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	286	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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						TCGCTTGCGTTCGTTGATCTG	0.458																																						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.(856-858)gAa>gCa		Cdc42 guanine nucleotide exchange factor (GEF) 9							116	86	96					X																	62893985		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62893985T>G	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.857A>C	X.37:g.62893985T>G	ENSP00000253401:p.Glu286Ala		Somatic				ARHGEF9_ENST00000437457.2_Missense_Mutation_p.E233A|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.E265A|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.E184A|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.E57A|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.E284A	p.E286A	NM_015185.2	NP_056000.1	WXS	Illumina GAIIx	Phase_I	O43307	ARHG9_HUMAN			6	1657	-			286			DH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.857A>C	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.681348	0.88542	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.61	5.61	0.85477	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.89434	0.6714	H	0.97315	3.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.92722	0.6192	10	0.87932	D	0	.	13.5465	0.61707	0.0:0.0:0.0:1.0	.	233;284;286;286	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	A	286;284;233;184;57;265	ENSP00000253401:E286A;ENSP00000364012:E284A;ENSP00000399994:E233A;ENSP00000364004:E184A;ENSP00000404478:E57A;ENSP00000364006:E265A	ENSP00000253401:E286A	E	-	2	0	ARHGEF9	62810710	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.501000	0.81600	1.879000	0.54435	0.486000	0.48141	GAA		0.458	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			9	58	0	0	0	1	0	9	58					G	62893985	T	G	62893985	3	3	48	1	0	0	0	0	1	0	0	0	912	1783	62	4	713	4	ARHGEF9	23	62893985	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	4958878	62893985	92376575	4492	8960										
MTMR8	55613	broad.mit.edu	37	chrX	63574754	63574754	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caatcagtttccatccacttTccctcatctcttttgaggat	4	13	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:63574754T>G	ENST00000374852.3	-	4	438	c.371A>C	c.(370-372)gAa>gCa	p.E124A	MTMR8_ENST00000453546.1_Missense_Mutation_p.E124A	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	124						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCATCCACTTTCCCTCATCTC	0.393																																						ENST00000374852.3																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(370-372)gAa>gCa		myotubularin related protein 8							111	88	96					X																	63574754		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63574754T>G	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.371A>C	X.37:g.63574754T>G	ENSP00000363985:p.Glu124Ala		Somatic				MTMR8_ENST00000453546.1_Missense_Mutation_p.E124A	p.E124A	NM_017677.3	NP_060147.2	WXS	Illumina GAIIx	Phase_I	Q96EF0	MTMR8_HUMAN			4	438	-			124					Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.371A>C	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	T	9.034	0.988085	0.18966	.	.	ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400	D;D	0.92911	-3.13;-3.13	2.96	2.96	0.34315	.	0.227925	0.28635	U	0.014641	D	0.83124	0.5186	L	0.37897	1.145	0.27291	N	0.957848	P;B	0.39809	0.689;0.02	B;B	0.30105	0.111;0.017	T	0.78478	-0.2188	10	0.72032	D	0.01	.	5.5248	0.16953	0.0:0.1376:0.0:0.8624	.	124;124	B4DQL0;Q96EF0	.;MTMR8_HUMAN	A	124;124;123	ENSP00000394003:E124A;ENSP00000363985:E124A	ENSP00000247400:E123A	E	-	2	0	MTMR8	63491479	0.986000	0.35501	0.991000	0.47740	0.734000	0.41952	3.041000	0.49807	1.410000	0.46936	0.412000	0.27726	GAA		0.393	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		13	28	0	0	0	1	0	13	28					G	63574754	T	G	63574754	3	3	48	1	0	0	0	0	1	0	0	0	9958	1783	62	4	1787	4	MTMR8	23	63574754	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	680769	63574754	91695806	4493	8961										
LAS1L	81887	broad.mit.edu	37	chrX	64743516	64743516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccggggccagtcaagggaggCggagcagttgaacagcctcc	16	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:64743516C>T	ENST00000374811.3	-	11	1412	c.1372G>A	c.(1372-1374)Gcc>Acc	p.A458T	LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374804.5_Missense_Mutation_p.A399T|LAS1L_ENST00000374807.5_Missense_Mutation_p.A441T	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	458					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TCAAGGGAGGCGGAGCAGTTG	0.577																																						ENST00000374811.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(1372-1374)Gcc>Acc		LAS1-like (S. cerevisiae)							41	29	33					X																	64743516		2200	4299	6499	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64743516C>T	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1372G>A	X.37:g.64743516C>T	ENSP00000363944:p.Ala458Thr		Somatic				LAS1L_ENST00000374807.5_Missense_Mutation_p.A441T|LAS1L_ENST00000374804.5_Missense_Mutation_p.A399T|LAS1L_ENST00000312391.8_3'UTR	p.A458T	NM_031206.4	NP_112483.1	WXS	Illumina GAIIx	Phase_I	Q9Y4W2	LAS1L_HUMAN			11	1412	-			458					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.1372G>A	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	C	5.962	0.361469	0.11296	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.89	0.527	0.17084	.	0.887967	0.09881	N	0.743608	T	0.25975	0.0633	L	0.41236	1.265	0.09310	N	1	B;B;B	0.27559	0.038;0.177;0.181	B;B;B	0.18561	0.006;0.022;0.016	T	0.20009	-1.0288	9	0.19590	T	0.45	.	3.0271	0.06095	0.4057:0.3642:0.0:0.2301	.	399;441;458	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	T	441;458;399	.	ENSP00000363937:A399T	A	-	1	0	LAS1L	64660241	0.002000	0.14202	0.162000	0.22713	0.558000	0.35554	-0.189000	0.09629	0.322000	0.23283	0.287000	0.19450	GCC		0.577	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		6	11	0	0	0	1	0	6	11					T	64743516	C	T	64743516	3	4	48	1	0	0	0	0	1	0	0	0	8645	768	27	1	848	1	LAS1L	23	64743516	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1168762	64743516	90527044	4494	8962										
LAS1L	81887	broad.mit.edu	37	chrX	64743963	64743963	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgttggccacgatcagttCaacggtccatctgaggatgt	13	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:64743963C>A	ENST00000374811.3	-	10	1313	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374804.5_Nonsense_Mutation_p.E366*|LAS1L_ENST00000374807.5_Nonsense_Mutation_p.E408*	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	425					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ACGATCAGTTCAACGGTCCAT	0.597																																						ENST00000374811.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(1273-1275)Gaa>Taa		LAS1-like (S. cerevisiae)							93	62	73					X																	64743963		2203	4300	6503	SO:0001587	stop_gained	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64743963C>A	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1273G>T	X.37:g.64743963C>A	ENSP00000363944:p.Glu425*		Somatic				LAS1L_ENST00000374807.5_Nonsense_Mutation_p.E408*|LAS1L_ENST00000374804.5_Nonsense_Mutation_p.E366*|LAS1L_ENST00000312391.8_3'UTR	p.E425*	NM_031206.4	NP_112483.1	WXS	Illumina GAIIx	Phase_I	Q9Y4W2	LAS1L_HUMAN			10	1313	-			425					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Nonsense_Mutation	SNP	ENST00000374811.3	37	c.1273G>T	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	C	37	6.249529	0.97412	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.76	4.76	0.60689	.	0.110577	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.3933	0.55370	0.0:1.0:0.0:0.0	.	.	.	.	X	408;425;366	.	ENSP00000363937:E366X	E	-	1	0	LAS1L	64660688	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	3.285000	0.51716	1.972000	0.57404	0.287000	0.19450	GAA		0.597	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		10	21	1	0	6.42651e-13	1	8.16824e-13	10	21					A	64743963	C	A	64743963	4	1	48	1	0	0	0	0	0	1	0	0	8645	835	29	2	951	2	LAS1L	23	64743963	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	447	64743963	90526597	4495	8963										
LAS1L	81887	broad.mit.edu	37	chrX	64751318	64751318	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatccaatccggaatatttaCctgattacaggggagggtgt	11	7	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:64751318C>T	ENST00000374811.3	-	4	473	c.433G>A	c.(433-435)Gta>Ata	p.V145I	LAS1L_ENST00000312391.8_Splice_Site_p.V145I|LAS1L_ENST00000374804.5_Splice_Site_p.V103I|LAS1L_ENST00000374807.5_Splice_Site_p.V145I	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	145					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GGAATATTTACCTGATTACAG	0.443																																						ENST00000374811.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						c.e4-1		LAS1-like (S. cerevisiae)							121	112	115					X																	64751318		2203	4300	6503	SO:0001630	splice_region_variant	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64751318C>T	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.433-1G>A	X.37:g.64751318C>T			Somatic				LAS1L_ENST00000374807.5_Splice_Site_p.V145_splice|LAS1L_ENST00000374804.5_Splice_Site_p.V103_splice|LAS1L_ENST00000312391.8_Splice_Site_p.V145_splice	p.V145_splice	NM_031206.4	NP_112483.1	WXS	Illumina GAIIx	Phase_I	Q9Y4W2	LAS1L_HUMAN			4	473	-			145					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Splice_Site	SNP	ENST00000374811.3	37	c.432_splice	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127899	0.56721	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.42	2.29	0.28610	.	0.310095	0.33309	N	0.005056	T	0.17323	0.0416	N	0.04387	-0.21	0.34874	D	0.743855	B;P;B	0.43578	0.093;0.811;0.095	B;P;B	0.44623	0.026;0.455;0.102	T	0.19484	-1.0304	9	0.09338	T	0.73	.	2.7778	0.05352	0.2266:0.524:0.0:0.2494	.	103;145;145	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	I	145;145;103;145	.	ENSP00000308649:V145I	V	-	1	0	LAS1L	64668043	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	0.505000	0.22642	1.051000	0.40369	0.600000	0.82982	GTA		0.443	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206	Missense_Mutation	9	96	0	0	0	1	0	9	96					T	64751318	C	T	64751318	5	4	48	1	0	0	0	0	0	0	1	0	8645	521	18	3	1815	3	LAS1L	23	64751318	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	7355	64751318	90519242	4496	8964										
HEPH	9843	broad.mit.edu	37	chrX	65418735	65418735	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcagaaaggggtggataaaGaattctttcttctcttcact	9	7	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:65418735G>T	ENST00000343002.2	+	10	2393	c.1729G>T	c.(1729-1731)Gaa>Taa	p.E577*	HEPH_ENST00000419594.1_Intron|HEPH_ENST00000336279.5_Nonsense_Mutation_p.E310*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.E580*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.E580*|HEPH_ENST00000519389.1_Nonsense_Mutation_p.E631*			Q9BQS7	HEPH_HUMAN	hephaestin	577	Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGTGGATAAAGAATTCTTTCT	0.438																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1891-1893)Gaa>Taa		hephaestin							141	121	128					X																	65418735		2203	4300	6503	SO:0001587	stop_gained	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65418735G>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1729G>T	X.37:g.65418735G>T	ENSP00000343939:p.Glu577*		Somatic				HEPH_ENST00000374727.3_Nonsense_Mutation_p.E580*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.E310*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.E580*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.E577*|HEPH_ENST00000419594.1_Intron	p.E631*			WXS	Illumina GAIIx	Phase_I	Q9BQS7	HEPH_HUMAN			11	2070	+			577			Plastocyanin-like 4.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Nonsense_Mutation	SNP	ENST00000343002.2	37	c.1891G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.510436	0.97624	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002;ENST00000425114	.	.	.	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	14.9157	0.70795	0.0:0.0:1.0:0.0	.	.	.	.	X	631;580;310;580;577;534	.	ENSP00000337418:E310X	E	+	1	0	HEPH	65335460	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.212000	0.89756	1.806000	0.52798	0.271000	0.19318	GAA		0.438	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		5	92	1	0	0.00116845	1	0.00122532	5	92					T	65418735	G	T	65418735	4	4	48	1	0	0	0	0	0	1	0	0	7063	943	33	2	1933	2	HEPH	23	65418735	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	667417	65418735	89851825	4497	8965										
OPHN1	4983	broad.mit.edu	37	chrX	67333047	67333047	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcagagaccagctctttgtGaagtctataggtcatgacag	11	8	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:67333047G>T	ENST00000355520.5	-	17	2037	c.1396C>A	c.(1396-1398)Cac>Aac	p.H466N	OPHN1_ENST00000540071.1_Missense_Mutation_p.H466N|OPHN1_ENST00000484842.1_5'Flank	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	466	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						AGCTCTTTGTGAAGTCTATAG	0.363																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(1396-1398)Cac>Aac		oligophrenin 1							79	69	72					X																	67333047		2203	4300	6503	SO:0001583	missense	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67333047G>T	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"Rho GTPase activating proteins"	8148	protein-coding gene	gene with protein product		300127	"mental retardation, X-linked 60"	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.1396C>A	X.37:g.67333047G>T	ENSP00000347710:p.His466Asn		Somatic				OPHN1_ENST00000540071.1_Missense_Mutation_p.H466N	p.H466N	NM_002547.2	NP_002538.1	WXS	Illumina GAIIx	Phase_I	O60890	OPHN1_HUMAN			17	2037	-			466			Rho-GAP.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.1396C>A	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020651	0.75275	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.18502	2.21;2.21	4.32	4.32	0.51571	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	M	0.80422	2.495	0.80722	D	1	D;D	0.69078	0.989;0.997	D;D	0.79108	0.969;0.992	T	0.47368	-0.9123	10	0.87932	D	0	.	13.2242	0.59905	0.0:0.0:1.0:0.0	.	466;466	F5H2E3;O60890	.;OPHN1_HUMAN	N	466	ENSP00000347710:H466N;ENSP00000438617:H466N	ENSP00000347710:H466N	H	-	1	0	OPHN1	67249772	1.000000	0.71417	0.826000	0.32828	0.956000	0.61745	5.319000	0.65835	1.975000	0.57531	0.594000	0.82650	CAC		0.363	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		7	22	1	0	3.09899e-07	1	3.54467e-07	7	22					T	67333047	G	T	67333047	3	4	48	1	0	0	0	0	1	0	0	0	10884	1290	45	2	1044	2	OPHN1	23	67333047	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1914312	67333047	87937513	4498	8966										
OPHN1	4983	broad.mit.edu	37	chrX	67426472	67426472	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcagtgttttggtctctttCtcatactggcaatagtattt	8	7	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:67426472C>A	ENST00000355520.5	-	10	1517	c.876G>T	c.(874-876)gaG>gaT	p.E292D	OPHN1_ENST00000540071.1_Missense_Mutation_p.E292D	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	292	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGGTCTCTTTCTCATACTGGC	0.413																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(874-876)gaG>gaT		oligophrenin 1							254	200	218					X																	67426472		2203	4300	6503	SO:0001583	missense	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67426472C>A	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"Rho GTPase activating proteins"	8148	protein-coding gene	gene with protein product		300127	"mental retardation, X-linked 60"	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.876G>T	X.37:g.67426472C>A	ENSP00000347710:p.Glu292Asp		Somatic				OPHN1_ENST00000540071.1_Missense_Mutation_p.E292D	p.E292D	NM_002547.2	NP_002538.1	WXS	Illumina GAIIx	Phase_I	O60890	OPHN1_HUMAN			10	1517	-			292			PH.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.876G>T	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	C	7.608	0.674286	0.14841	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.40476	1.03;1.03	4.58	3.72	0.42706	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.500497	0.21167	N	0.079047	T	0.14700	0.0355	N	0.04880	-0.145	0.37689	D	0.923789	B;P	0.39480	0.187;0.675	B;B	0.30855	0.08;0.121	T	0.10382	-1.0632	10	0.10902	T	0.67	.	6.1834	0.20484	0.0:0.7723:0.0:0.2277	.	292;292	F5H2E3;O60890	.;OPHN1_HUMAN	D	292	ENSP00000347710:E292D;ENSP00000438617:E292D	ENSP00000347710:E292D	E	-	3	2	OPHN1	67343197	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.609000	0.24238	1.073000	0.40885	0.429000	0.28392	GAG		0.413	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		20	53	1	0	2.39187e-15	1	3.14903e-15	20	53					A	67426472	C	A	67426472	3	1	48	1	0	0	0	0	1	0	0	0	10884	912	32	2	1592	2	OPHN1	23	67426472	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	93425	67426472	87844088	4499	8967										
STARD8	9754	broad.mit.edu	37	chrX	67943867	67943867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaacaacctgtgccagagtCgggtgtgcgagccctcatgc	14	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:67943867C>T	ENST00000252336.6	+	13	3230	c.2858C>T	c.(2857-2859)tCg>tTg	p.S953L	STARD8_ENST00000374599.3_Missense_Mutation_p.S1033L|STARD8_ENST00000374597.3_Missense_Mutation_p.S953L	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	953	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				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						GTGCCAGAGTCGGGTGTGCGA	0.617																																						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.(2857-2859)tCg>tTg		StAR-related lipid transfer (START) domain containing 8							118	78	92					X																	67943867		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:67943867C>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.2858C>T	X.37:g.67943867C>T	ENSP00000252336:p.Ser953Leu		Somatic				STARD8_ENST00000374597.3_Missense_Mutation_p.S953L|STARD8_ENST00000374599.3_Missense_Mutation_p.S1033L	p.S953L	NM_014725.4	NP_055540.2	WXS	Illumina GAIIx	Phase_I	Q92502	STAR8_HUMAN			13	3230	+			953			START.		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.2858C>T	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624583	0.28889	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.31769	1.48;1.48;1.48	4.52	4.52	0.55395	Lipid-binding START (3);START-like domain (1);	0.346348	0.21619	N	0.071669	T	0.21387	0.0515	N	0.14661	0.345	0.09310	N	1	P;P	0.51537	0.946;0.753	P;B	0.46510	0.519;0.349	T	0.05632	-1.0873	10	0.42905	T	0.14	.	9.0403	0.36314	0.2188:0.7812:0.0:0.0	.	1033;953	Q92502-2;Q92502	.;STAR8_HUMAN	L	953;1033;953	ENSP00000252336:S953L;ENSP00000363727:S1033L;ENSP00000363725:S953L	ENSP00000252336:S953L	S	+	2	0	STARD8	67860592	0.681000	0.27614	0.848000	0.33437	0.772000	0.43724	1.196000	0.32198	2.108000	0.64289	0.594000	0.82650	TCG		0.617	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		22	39	0	0	0	1	0	22	39					T	67943867	C	T	67943867	3	4	48	1	0	0	0	0	1	0	0	0	15278	893	31	1	3152	1	STARD8	23	67943867	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	517395	67943867	87326693	4500	8968										
PJA1	64219	broad.mit.edu	37	chrX	68381328	68381328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgaccaactgcgccatgaTcttcagtgaccaggatctcg	9	14	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:68381328T>C	ENST00000361478.1	-	2	2131	c.1754A>G	c.(1753-1755)gAt>gGt	p.D585G	PJA1_ENST00000374571.4_Missense_Mutation_p.D530G|PJA1_ENST00000374584.3_Missense_Mutation_p.D397G|PJA1_ENST00000477231.1_5'Flank|PJA1_ENST00000374583.1_Missense_Mutation_p.D585G	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	585					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TGCGCCATGATCTTCAGTGAC	0.562																																						ENST00000361478.1																			0				endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						c.(1753-1755)gAt>gGt		praja ring finger 1, E3 ubiquitin protein ligase							128	89	102					X																	68381328		2203	4300	6503	SO:0001583	missense	64219						zinc ion binding	g.chrX:68381328T>C	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"RING-type (C3HC4) zinc fingers"	16648	protein-coding gene	gene with protein product		300420	"praja 1", "praja ring finger 1"			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1754A>G	X.37:g.68381328T>C	ENSP00000355014:p.Asp585Gly		Somatic				PJA1_ENST00000374571.4_Missense_Mutation_p.D530G|PJA1_ENST00000374583.1_Missense_Mutation_p.D585G|PJA1_ENST00000374584.3_Missense_Mutation_p.D397G	p.D585G	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	WXS	Illumina GAIIx	Phase_I	Q8NG27	PJA1_HUMAN			2	2131	-			585					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.1754A>G	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	T	8.466	0.856526	0.17106	.	.	ENSG00000181191	ENST00000396010;ENST00000374584;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T;T	0.16196	2.36;2.56;2.56;2.56	3.53	3.53	0.40419	.	0.000000	0.52532	U	0.000070	T	0.12347	0.0300	L	0.29908	0.895	0.42455	D	0.992765	P;P	0.46512	0.734;0.879	B;B	0.40165	0.321;0.295	T	0.04307	-1.0961	10	0.66056	D	0.02	-5.5849	9.6729	0.40023	0.0:0.0:0.0:1.0	.	585;397	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	G	500;397;585;585;530	ENSP00000363712:D397G;ENSP00000363711:D585G;ENSP00000355014:D585G;ENSP00000363699:D530G	ENSP00000355014:D585G	D	-	2	0	PJA1	68298053	1.000000	0.71417	0.665000	0.29768	0.018000	0.09664	5.522000	0.67092	1.639000	0.50556	0.441000	0.28932	GAT		0.562	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		36	57	0	0	0	1	0	36	57					C	68381328	T	C	68381328	3	2	48	1	0	0	0	0	1	0	0	0	11970	1435	50	4	181	4	PJA1	23	68381328	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	437461	68381328	86889232	4501	8969										
IGBP1	3476	broad.mit.edu	37	chrX	69366640	69366640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agattgagagcattgaccagGaaataaagatcctgagagaa	11	5	0	6			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:69366640G>A	ENST00000342206.6	+	3	1139	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	IGBP1_ENST00000356413.4_Missense_Mutation_p.E214K|IGBP1-AS2_ENST00000403371.2_RNA			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	214					B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						CATTGACCAGGAAATAAAGAT	0.408																																					NSCLC(167;1189 1558 6576 8216 30387 37980 41450)	ENST00000342206.6																			0				kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						c.(640-642)Gaa>Aaa		immunoglobulin (CD79A) binding protein 1							58	49	52					X																	69366640		2203	4299	6502	SO:0001583	missense	3476				B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity	g.chrX:69366640G>A	Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"alpha 4"	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.640G>A	X.37:g.69366640G>A	ENSP00000363661:p.Glu214Lys		Somatic				IGBP1_ENST00000356413.4_Missense_Mutation_p.E214K	p.E214K			WXS	Illumina GAIIx	Phase_I	P78318	IGBP1_HUMAN			3	1139	+			214					Q8TAB2	Missense_Mutation	SNP	ENST00000342206.6	37	c.640G>A	CCDS14396.1	.	.	.	.	.	.	.	.	.	.	.	27.5	4.836929	0.91117	.	.	ENSG00000089289	ENST00000342206;ENST00000356413	T;T	0.61274	0.12;0.12	5.14	5.14	0.70334	.	0.047289	0.85682	D	0.000000	T	0.78246	0.4253	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81922	-0.0711	10	0.87932	D	0	.	15.0278	0.71682	0.0:0.0:1.0:0.0	.	214	P78318	IGBP1_HUMAN	K	214	ENSP00000363661:E214K;ENSP00000348784:E214K	ENSP00000363661:E214K	E	+	1	0	IGBP1	69283365	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	6.770000	0.74990	2.523000	0.85059	0.594000	0.82650	GAA		0.408	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057052.1			14	35	0	0	0	1	0	14	35					A	69366640	G	A	69366640	3	1	48	1	0	0	0	0	1	0	0	0	7576	1175	41	3	650	3	IGBP1	23	69366640	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	985312	69366640	85903920	4502	8970										
PDZD11	51248	broad.mit.edu	37	chrX	69507613	69507613	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caatatcttggaaatccacaTcattcacagctagaacttgg	6	10	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:69507613T>C	ENST00000239666.4	-	5	428	c.296A>G	c.(295-297)gAt>gGt	p.D99G	PDZD11_ENST00000473667.1_5'UTR|KIF4A_ENST00000374403.3_5'Flank|KIF4A_ENST00000374388.3_5'Flank|PDZD11_ENST00000374454.1_Missense_Mutation_p.D99G	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	99	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	protein C-terminus binding (GO:0008022)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						GAAATCCACATCATTCACAGC	0.473																																						ENST00000239666.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						c.(295-297)gAt>gGt		PDZ domain containing 11							180	137	152					X																	69507613		2203	4300	6503	SO:0001583	missense	51248					basolateral plasma membrane|cytosol|extracellular region	protein C-terminus binding	g.chrX:69507613T>C	AF151061	CCDS14400.1	Xq13.1	2008-02-05		2006-01-24	ENSG00000120509	ENSG00000120509			28034	protein-coding gene	gene with protein product		300632		PDZK11		11042152, 12975309	Standard	NM_016484		Approved		uc004dyd.1	Q5EBL8	OTTHUMG00000021771	ENST00000239666.4:c.296A>G	X.37:g.69507613T>C	ENSP00000239666:p.Asp99Gly		Somatic				PDZD11_ENST00000473667.1_5'UTR|PDZD11_ENST00000374454.1_Missense_Mutation_p.D99G	p.D99G	NM_016484.4	NP_057568.1	WXS	Illumina GAIIx	Phase_I	Q5EBL8	PDZ11_HUMAN			5	428	-			99			PDZ.		D3DVU3|Q6UWE1|Q9P0Q1	Missense_Mutation	SNP	ENST00000239666.4	37	c.296A>G	CCDS14400.1	.	.	.	.	.	.	.	.	.	.	T	5.303	0.241241	0.10077	.	.	ENSG00000120509	ENST00000239666;ENST00000374454	T;T	0.08807	3.05;3.05	5.19	5.19	0.71726	PDZ/DHR/GLGF (4);	0.190561	0.56097	D	0.000032	T	0.01730	0.0055	N	0.00132	-2.035	0.49483	D	0.999793	P;B	0.38827	0.649;0.166	B;B	0.38428	0.273;0.095	T	0.52200	-0.8607	10	0.02654	T	1	.	13.2318	0.59947	0.0:0.0:0.0:1.0	.	130;99	Q5EBL8-2;Q5EBL8	.;PDZ11_HUMAN	G	99	ENSP00000239666:D99G;ENSP00000363578:D99G	ENSP00000239666:D99G	D	-	2	0	PDZD11	69424338	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.102000	0.77005	1.918000	0.55548	0.486000	0.48141	GAT		0.473	PDZD11-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057060.1	NM_016484		23	46	0	0	0	1	0	23	46					C	69507613	T	C	69507613	3	2	48	1	0	0	0	0	1	0	0	0	11709	1435	50	4	138	4	PDZD11	23	69507613	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	140973	69507613	85762947	4503	8971										
GDPD2	54857	broad.mit.edu	37	chrX	69652184	69652184	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cataaggataatgtctcggtGaacctatttgtagtgaacaa	9	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:69652184G>T	ENST00000374382.3	+	13	1586	c.1335G>T	c.(1333-1335)gtG>gtT	p.V445V	GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Silent_p.V366V|GDPD2_ENST00000536730.1_Silent_p.V366V|GDPD2_ENST00000453994.2_Silent_p.V496V	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	445	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					ATGTCTCGGTGAACCTATTTG	0.537																																						ENST00000453994.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22						c.(1486-1488)gtG>gtT		glycerophosphodiester phosphodiesterase domain containing 2							217	185	196					X																	69652184		2203	4300	6503	SO:0001819	synonymous_variant	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69652184G>T	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"osteoblast differentiation promoting factor"					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1335G>T	X.37:g.69652184G>T			Somatic				GDPD2_ENST00000536730.1_Silent_p.V366V|GDPD2_ENST00000374382.3_Silent_p.V445V|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Silent_p.V366V	p.V496V	NM_001171192.1	NP_001164663.1	WXS	Illumina GAIIx	Phase_I	Q9HCC8	GDPD2_HUMAN			14	1849	+	Renal(35;0.156)		445					B4DRH4|B4DVC9|Q9NXJ6	Silent	SNP	ENST00000374382.3	37	c.1488G>T	CCDS14402.1																																																																																				0.537	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		42	89	1	0	1.91658e-06	1	2.15367e-06	42	89					T	69652184	G	T	69652184	2	4	48	1	0	0	0	0	0	0	0	1	6332	1277	45	2		2	GDPD2	23	69652184	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	144571	69652184	85618376	4504	8972										
TEX11	56159	broad.mit.edu	37	chrX	69890345	69890345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aataatagtaccattgtaggGcatcagtgtaattttgtacc	8	6	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:69890345G>A	ENST00000395889.2	-	17	1462	c.1307C>T	c.(1306-1308)gCc>gTc	p.A436V	TEX11_ENST00000374333.2_Missense_Mutation_p.A421V|TEX11_ENST00000374320.2_Missense_Mutation_p.A111V|TEX11_ENST00000344304.3_Missense_Mutation_p.A436V	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	436					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CCATTGTAGGGCATCAGTGTA	0.378																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(1306-1308)gCc>gTc		testis expressed 11							90	77	82					X																	69890345		2203	4300	6503	SO:0001583	missense	0						protein binding	g.chrX:69890345G>A	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.1307C>T	X.37:g.69890345G>A	ENSP00000379226:p.Ala436Val		Somatic				TEX11_ENST00000374333.2_Missense_Mutation_p.A421V|TEX11_ENST00000374320.2_Missense_Mutation_p.A111V|TEX11_ENST00000344304.3_Missense_Mutation_p.A436V	p.A436V	NM_001003811.1	NP_001003811.1	WXS	Illumina GAIIx	Phase_I	Q8IYF3	TEX11_HUMAN			17	1462	-	Renal(35;0.156)		436					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.1307C>T	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617623	0.46736	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	4.03	4.03	0.46877	Tetratricopeptide-like helical (1);	0.073970	0.53938	D	0.000050	D	0.95408	0.8509	M	0.70275	2.135	0.36271	D	0.855157	D;D	0.76494	0.998;0.999	D;D	0.72338	0.961;0.977	D	0.96286	0.9210	9	.	.	.	-0.906	10.6084	0.45408	0.0:0.0:1.0:0.0	.	421;436	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	V	421;436;111;436	ENSP00000363453:A421V;ENSP00000379226:A436V;ENSP00000363440:A111V;ENSP00000340995:A436V	.	A	-	2	0	TEX11	69807070	1.000000	0.71417	0.674000	0.29902	0.108000	0.19459	6.498000	0.73679	1.865000	0.54081	0.422000	0.28245	GCC		0.378	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			13	33	0	0	0	1	0	13	33					A	69890345	G	A	69890345	3	1	48	1	0	0	0	0	1	0	0	0	15789	1203	42	3	1575	3	TEX11	23	69890345	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	238161	69890345	85380215	4505	8973										
MED12	9968	broad.mit.edu	37	chrX	70344099	70344099	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acatgatgttttctcccacaAcatgtatacttgcactctca	4	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70344099A>C	ENST00000374080.3	+	13	1867	c.1835A>C	c.(1834-1836)aAc>aCc	p.N612T	MED12_ENST00000333646.6_Missense_Mutation_p.N612T|MED12_ENST00000374102.1_Missense_Mutation_p.N612T			Q93074	MED12_HUMAN	mediator complex subunit 12	612					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)					TTCTCCCACAACATGTATACT	0.537			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(1834-1836)aAc>aCc		mediator complex subunit 12							95	85	88					X																	70344099		1957	4134	6091	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:70344099A>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.1835A>C	X.37:g.70344099A>C	ENSP00000363193:p.Asn612Thr		Somatic				MED12_ENST00000374080.3_Missense_Mutation_p.N612T|MED12_ENST00000374102.1_Missense_Mutation_p.N612T	p.N612T	NM_005120.2	NP_005111.2	WXS	Illumina GAIIx	Phase_I	Q93074	MED12_HUMAN			13	2034	+	Renal(35;0.156)		612					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.1835A>C	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	24.4	4.525598	0.85600	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	4.78	4.78	0.61160	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.56804	0.2010	M	0.71581	2.175	0.80722	D	1	P;D;D;D	0.69078	0.93;0.997;0.97;0.987	P;D;P;P	0.65573	0.647;0.936;0.888;0.855	T	0.62229	-0.6898	10	0.87932	D	0	-17.0591	13.532	0.61627	1.0:0.0:0.0:0.0	.	612;459;612;612	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	T	612;612;612;612;580	ENSP00000333125:N612T;ENSP00000363215:N612T;ENSP00000363193:N612T;ENSP00000414203:N580T	ENSP00000333125:N612T	N	+	2	0	MED12	70260824	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.500000	0.90498	1.767000	0.52121	0.345000	0.21793	AAC		0.537	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		22	33	0	0	0	1	0	22	33					C	70344099	A	C	70344099	3	2	48	1	0	0	0	0	1	0	0	0	9437	43	2	4	1885	4	MED12	23	70344099	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	453754	70344099	84926461	4506	8974										
MED12	9968	broad.mit.edu	37	chrX	70352363	70352363	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgggttcctcttcacgcaaaGaacgtgatcgacaaaagcag	10	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70352363G>T	ENST00000374080.3	+	31	4422	c.4390G>T	c.(4390-4392)Gaa>Taa	p.E1464*	MED12_ENST00000333646.6_Nonsense_Mutation_p.E1464*|MED12_ENST00000374102.1_Nonsense_Mutation_p.E1464*			Q93074	MED12_HUMAN	mediator complex subunit 12	1464					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)					TTCACGCAAAGAACGTGATCG	0.517			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(4390-4392)Gaa>Taa		mediator complex subunit 12							53	48	50					X																	70352363		1908	4123	6031	SO:0001587	stop_gained	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:70352363G>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.4390G>T	X.37:g.70352363G>T	ENSP00000363193:p.Glu1464*		Somatic				MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Nonsense_Mutation_p.E1464*|MED12_ENST00000374102.1_Nonsense_Mutation_p.E1464*	p.E1464*	NM_005120.2	NP_005111.2	WXS	Illumina GAIIx	Phase_I	Q93074	MED12_HUMAN			31	4589	+	Renal(35;0.156)		1464					O15410|O75557|Q9UHV6|Q9UND7	Nonsense_Mutation	SNP	ENST00000374080.3	37	c.4390G>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	G	45	11.518621	0.99571	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	.	.	.	4.15	4.15	0.48705	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-12.8582	16.1804	0.81895	0.0:0.0:1.0:0.0	.	.	.	.	X	1464;1464;1464;1464;1432;209	.	ENSP00000333125:E1464X	E	+	1	0	MED12	70269088	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.933000	0.92911	2.071000	0.62044	0.523000	0.50628	GAA		0.517	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	13	1	0	0.00198382	1	0.00207034	7	13					T	70352363	G	T	70352363	4	4	48	1	0	0	0	0	0	1	0	0	9437	943	33	2	4512	2	MED12	23	70352363	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	8264	70352363	84918197	4507	8975										
NLGN3	54413	broad.mit.edu	37	chrX	70375128	70375128	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggaggctcttacatggaaggGacaggcaacatgattgatgg	15	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70375128G>A	ENST00000358741.3	+	5	945	c.642G>A	c.(640-642)ggG>ggA	p.G214G	NLGN3_ENST00000374051.3_Silent_p.G194G|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Silent_p.G174G	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	214					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ACATGGAAGGGACAGGCAACA	0.552																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(580-582)ggG>ggA		neuroligin 3							272	168	203					X																	70375128		2203	4300	6503	SO:0001819	synonymous_variant	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70375128G>A	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.642G>A	X.37:g.70375128G>A			Somatic				NLGN3_ENST00000536169.1_Silent_p.G174G|NLGN3_ENST00000358741.3_Silent_p.G214G|NLGN3_ENST00000476589.1_3'UTR	p.G194G	NM_018977.3	NP_061850.2	WXS	Illumina GAIIx	Phase_I	Q9NZ94	NLGN3_HUMAN			4	904	+	Renal(35;0.156)		214					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP	ENST00000358741.3	37	c.582G>A	CCDS55441.1																																																																																				0.552	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		29	55	0	0	0	1	0	29	55					A	70375128	G	A	70375128	2	1	48	1	0	0	0	0	0	0	0	1	10472	1161	41	3		3	NLGN3	23	70375128	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	22765	70375128	84895432	4508	8976										
GJB1	2705	broad.mit.edu	37	chrX	70444064	70444064	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgcggctggtcaagtgcgaCgtctacccctgccccaacac	11	16	2	0	rs373334326		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70444064C>T	ENST00000374022.3	+	2	602	c.507C>T	c.(505-507)gaC>gaT	p.D169D	GJB1_ENST00000361726.6_Silent_p.D169D|GJB1_ENST00000374029.1_Silent_p.D169D	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	169					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)|purine ribonucleotide transport (GO:0015868)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					TCAAGTGCGACGTCTACCCCT	0.562													C|||	11	0.00291391	0	0	3775	,	,		11449	0		0	False		,,,				2504	0.0112					ENST00000374022.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10						c.(505-507)gaC>gaT		gap junction protein, beta 1, 32kDa		C	,	0,3835		0,0,0,1632,571	161	118	132		507,507	-5.5	0.8	X		132	3,6725		0,2,1,2426,1871	no	coding-synonymous,coding-synonymous	GJB1	NM_000166.5,NM_001097642.2	,	0,2,1,4058,2442	TT,TC,T,CC,C		0.0446,0.0,0.0284	,	169/284,169/284	70444064	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	2705				cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity	g.chrX:70444064C>T	X04325	CCDS14408.1	Xq13.1	2014-09-17	2007-01-16		ENSG00000169562	ENSG00000169562		"Ion channels / Gap junction proteins (connexins)"	4283	protein-coding gene	gene with protein product	"Charcot-Marie-Tooth neuropathy, X-linked", "connexin 32"	304040	"gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)", "gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)", "gap junction protein, beta 1, 32kDa (connexin 32)"	CMTX1, CMTX		1319395	Standard	NM_000166		Approved	CX32	uc004dzf.3	P08034	OTTHUMG00000021797	ENST00000374022.3:c.507C>T	X.37:g.70444064C>T			Somatic				GJB1_ENST00000361726.6_Silent_p.D169D|GJB1_ENST00000374029.1_Silent_p.D169D	p.D169D	NM_001097642.2	NP_001091111.1	WXS	Illumina GAIIx	Phase_I	P08034	CXB1_HUMAN			2	602	+	Renal(35;0.156)		169					B2R8R2|D3DVV2|Q5U0S4	Silent	SNP	ENST00000374022.3	37	c.507C>T	CCDS14408.1																																																																																				0.562	GJB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057133.1	NM_000166		5	24	0	0	0	1	0	5	24					T	70444064	C	T	70444064	2	4	48	1	0	0	0	0	0	0	0	1	6415	535	19	1		1	GJB1	23	70444064	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	68936	70444064	84826496	4509	8977										
ZMYM3	9203	broad.mit.edu	37	chrX	70460939	70460939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggtagaacacatcgttgcGagtccggaggctttcaggac	13	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70460939G>A	ENST00000353904.2	-	25	4127	c.3940C>T	c.(3940-3942)Cgc>Tgc	p.R1314C	ZMYM3_ENST00000373998.1_Missense_Mutation_p.R1302C|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1224C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1314C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1316C	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1314					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)					ACATCGTTGCGAGTCCGGAGG	0.577																																						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.(3904-3906)Cgc>Tgc		zinc finger, MYM-type 3							55	43	47					X																	70460939		2203	4299	6502	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70460939G>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.3940C>T	X.37:g.70460939G>A	ENSP00000343909:p.Arg1314Cys		Somatic				ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1224C|ZMYM3_ENST00000353904.2_Missense_Mutation_p.R1314C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1314C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1316C|ZMYM3_ENST00000489332.1_5'UTR	p.R1302C	NM_001171162.1	NP_001164633.1	WXS	Illumina GAIIx	Phase_I	Q14202	ZMYM3_HUMAN			25	4601	-	Renal(35;0.156)		1314					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3904C>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	16.74	3.206999	0.58343	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.54479	1.17;0.57;1.17;1.16;1.17	4.71	4.71	0.59529	.	0.206969	0.34435	N	0.003968	T	0.69886	0.3161	M	0.62088	1.915	0.51233	D	0.999915	D;D	0.89917	1.0;1.0	D;D	0.74348	0.97;0.983	T	0.73981	-0.3811	10	0.72032	D	0.01	-10.4914	16.8904	0.86085	0.0:0.0:1.0:0.0	.	1302;1314	Q14202-2;Q14202	.;ZMYM3_HUMAN	C	1314;1302;1314;1224;1316	ENSP00000322845:R1314C;ENSP00000363110:R1302C;ENSP00000343909:R1314C;ENSP00000363096:R1224C;ENSP00000363100:R1316C	ENSP00000322845:R1314C	R	-	1	0	ZMYM3	70377664	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	3.239000	0.51360	2.164000	0.68074	0.594000	0.82650	CGC		0.577	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		14	20	0	0	0	1	0	14	20					A	70460939	G	A	70460939	3	1	48	1	0	0	0	0	1	0	0	0	17716	1058	37	1	176	1	ZMYM3	23	70460939	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	16875	70460939	84809621	4510	8978										
ZMYM3	9203	broad.mit.edu	37	chrX	70461091	70461091	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actcaccattttgagagataGaattcatagaacttgacagg	8	7	2	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70461091G>T	ENST00000353904.2	-	24	4093	c.3906C>A	c.(3904-3906)ttC>ttA	p.F1302L	ZMYM3_ENST00000373998.1_Missense_Mutation_p.F1290L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.F1212L|ZMYM3_ENST00000314425.5_Missense_Mutation_p.F1302L|ZMYM3_ENST00000373988.1_Missense_Mutation_p.F1304L	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1302					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)					TTGAGAGATAGAATTCATAGA	0.517																																						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.(3868-3870)ttC>ttA		zinc finger, MYM-type 3							112	91	98					X																	70461091		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70461091G>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3906C>A	X.37:g.70461091G>T	ENSP00000343909:p.Phe1302Leu		Somatic				ZMYM3_ENST00000373984.3_Missense_Mutation_p.F1212L|ZMYM3_ENST00000353904.2_Missense_Mutation_p.F1302L|ZMYM3_ENST00000314425.5_Missense_Mutation_p.F1302L|ZMYM3_ENST00000373988.1_Missense_Mutation_p.F1304L|ZMYM3_ENST00000489332.1_5'UTR	p.F1290L	NM_001171162.1	NP_001164633.1	WXS	Illumina GAIIx	Phase_I	Q14202	ZMYM3_HUMAN			24	4567	-	Renal(35;0.156)		1302					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.3870C>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	14.42	2.530443	0.45073	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.47528	1.43;0.84;1.43;1.53;1.43	4.48	2.71	0.32032	.	0.000000	0.64402	D	0.000002	T	0.48409	0.1498	L	0.57536	1.79	0.40231	D	0.977841	P;P	0.39003	0.602;0.654	B;P	0.46825	0.393;0.528	T	0.39313	-0.9620	10	0.41790	T	0.15	-11.9134	7.0941	0.25299	0.4028:0.0:0.5972:0.0	.	1290;1302	Q14202-2;Q14202	.;ZMYM3_HUMAN	L	1302;1290;1302;1212;1304	ENSP00000322845:F1302L;ENSP00000363110:F1290L;ENSP00000343909:F1302L;ENSP00000363096:F1212L;ENSP00000363100:F1304L	ENSP00000322845:F1302L	F	-	3	2	ZMYM3	70377816	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.613000	0.24299	0.360000	0.24265	0.583000	0.79449	TTC		0.517	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		21	34	1	0	1.55795e-14	1	2.03067e-14	21	34					T	70461091	G	T	70461091	3	4	48	1	0	0	0	0	1	0	0	0	17716	933	33	2	214	2	ZMYM3	23	70461091	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	152	70461091	84809469	4511	8979										
ZMYM3	9203	broad.mit.edu	37	chrX	70470017	70470017	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggagcctccagaaccagtCtgcgccacaaccgagtcctt	9	15	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70470017C>T	ENST00000353904.2	-	6	1297	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	ZMYM3_ENST00000373998.1_Silent_p.Q370Q|ZMYM3_ENST00000373982.1_Silent_p.Q372Q|ZMYM3_ENST00000373981.1_Silent_p.Q370Q|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Silent_p.Q372Q|ZMYM3_ENST00000373978.1_Missense_Mutation_p.R274K|ZMYM3_ENST00000314425.5_Silent_p.Q370Q|ZMYM3_ENST00000373988.1_Silent_p.Q372Q	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	370					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)					CAGAACCAGTCTGCGCCACAA	0.577																																						ENST00000373978.1																			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.(820-822)aGa>aAa		zinc finger, MYM-type 3							90	71	77					X																	70470017		2203	4300	6503	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70470017C>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1110G>A	X.37:g.70470017C>T			Somatic				ZMYM3_ENST00000373984.3_Silent_p.Q372Q|ZMYM3_ENST00000353904.2_Silent_p.Q370Q|ZMYM3_ENST00000314425.5_Silent_p.Q370Q|ZMYM3_ENST00000373981.1_Silent_p.Q370Q|ZMYM3_ENST00000373998.1_Silent_p.Q370Q|ZMYM3_ENST00000373988.1_Silent_p.Q372Q|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Silent_p.Q372Q	p.R274K			WXS	Illumina GAIIx	Phase_I	Q14202	ZMYM3_HUMAN			5	898	-	Renal(35;0.156)		178					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.821G>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	15.97	2.989157	0.53934	.	.	ENSG00000147130	ENST00000373978	.	.	.	4.43	2.66	0.31614	.	.	.	.	.	T	0.49712	0.1573	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22556	-1.0213	5	0.18710	T	0.47	-9.1533	8.2045	0.31446	0.0:0.7317:0.0:0.2683	.	.	.	.	K	274	.	ENSP00000363090:R274K	R	-	2	0	ZMYM3	70386742	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	2.086000	0.41643	0.350000	0.24002	0.468000	0.43344	AGA		0.577	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		19	19	0	0	0	1	0	19	19					T	70470017	C	T	70470017	2	4	48	1	0	0	0	0	0	0	0	1	17716	912	32	3		3	ZMYM3	23	70470017	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	8926	70470017	84800543	4512	8980										
NONO	4841	broad.mit.edu	37	chrX	70514336	70514336	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agggaagccagctgctcggaAagctctggacagatgcagtg	15	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70514336A>C	ENST00000276079.8	+	5	813	c.608A>C	c.(607-609)aAa>aCa	p.K203T	NONO_ENST00000373841.1_Missense_Mutation_p.K203T|NONO_ENST00000373856.3_Missense_Mutation_p.K203T|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000535149.1_Missense_Mutation_p.K114T	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	203	DBHS.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GCTGCTCGGAAAGCTCTGGAC	0.507			T	TFE3	papillary renal cancer																																	ENST00000535149.1				Dom	yes		X	Xq13.1	4841	T	"non-POU domain containing, octamer-binding"			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(340-342)aAa>aCa		non-POU domain containing, octamer-binding							53	45	48					X																	70514336		2203	4300	6503	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70514336A>C	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"RNA binding motif (RRM) containing"	7871	protein-coding gene	gene with protein product	"Nuclear RNA-binding protein, 54-kD", "non-Pou domain-containing octamer (ATGCAAAT) binding protein", "protein phosphatase 1, regulatory subunit 114"	300084	"non-POU-domain-containing, octamer-binding"			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.608A>C	X.37:g.70514336A>C	ENSP00000276079:p.Lys203Thr		Somatic				NONO_ENST00000373841.1_Missense_Mutation_p.K203T|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000276079.8_Missense_Mutation_p.K203T|NONO_ENST00000373856.3_Missense_Mutation_p.K203T	p.K114T	NM_001145410.1	NP_001138882.1	WXS	Illumina GAIIx	Phase_I	Q15233	NONO_HUMAN			3	984	+	Renal(35;0.156)		203			DBHS.|RRM 1.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.341A>C	CCDS14410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	21.7|21.7	4.191508|4.191508	0.78902|0.78902	.|.	.|.	ENSG00000147140|ENSG00000147140	ENST00000418921|ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841;ENST00000454976	T|T;T;T;T;T	0.19532|0.20738	2.14|2.05;2.05;2.05;2.05;2.05	4.87|4.87	4.87|4.87	0.63330|0.63330	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.35799|0.35799	0.0944|0.0944	L|L	0.37750|0.37750	1.13|1.13	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.76575	.|0.988	T|T	0.11060|0.11060	-1.0603|-1.0603	8|10	0.44086|0.62326	T|D	0.13|0.03	-13.9338|-13.9338	13.7303|13.7303	0.62783|0.62783	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|203	.|Q15233	.|NONO_HUMAN	Q|T	65|114;203;203;203;203	ENSP00000409773:K65Q|ENSP00000441364:K114T;ENSP00000276079:K203T;ENSP00000362963:K203T;ENSP00000362947:K203T;ENSP00000406673:K203T	ENSP00000409773:K65Q|ENSP00000276079:K203T	K|K	+|+	1|2	0|0	NONO|NONO	70431061|70431061	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	8.944000|8.944000	0.92980|0.92980	1.816000|1.816000	0.52996|0.52996	0.430000|0.430000	0.28490|0.28490	AAG|AAA		0.507	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		7	31	0	0	0	1	0	7	31					C	70514336	A	C	70514336	3	2	48	1	0	0	0	0	1	0	0	0	10543	14	1	4	618	4	NONO	23	70514336	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	44319	70514336	84756224	4513	8981										
OGT	8473	broad.mit.edu	37	chrX	70757899	70757899	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaggggcagtacaagcttacGtctctgctcttcagtacaat	9	10	3	0	rs368768611		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70757899G>A	ENST00000373719.3	+	3	656	c.439G>A	c.(439-441)Gtc>Atc	p.V147I	OGT_ENST00000498566.1_3'UTR|OGT_ENST00000373701.3_Missense_Mutation_p.V137I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	147					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)			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)					ACAAGCTTACGTCTCTGCTCT	0.428																																						ENST00000373719.3																			0				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.(439-441)Gtc>Atc		O-linked N-acetylglucosamine (GlcNAc) transferase			ILE/VAL,ILE/VAL	0,3835		0,0,1632,571	93	74	81		409,439	5	1	X		81	1,6727		0,1,2427,1872	no	missense,missense	OGT	NM_181673.2,NM_181672.2	29,29	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign,benign	137/1037,147/1047	70757899	1,10562	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:70757899G>A	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.439G>A	X.37:g.70757899G>A	ENSP00000362824:p.Val147Ile		Somatic				OGT_ENST00000373701.3_Missense_Mutation_p.V137I|OGT_ENST00000498566.1_3'UTR	p.V147I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	WXS	Illumina GAIIx	Phase_I	O15294	OGT1_HUMAN			3	656	+	Renal(35;0.156)		147					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.439G>A	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	g	15.00	2.703287	0.48412	0.0	1.49E-4	ENSG00000147162	ENST00000373719;ENST00000373701;ENST00000444774	T;T;T	0.59502	0.26;0.26;0.26	5.0	5.0	0.66597	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.062767	0.64402	D	0.000005	T	0.47210	0.1433	L	0.28054	0.825	0.80722	D	1	P;B;B	0.40660	0.726;0.394;0.023	B;B;B	0.39152	0.292;0.106;0.006	T	0.46162	-0.9211	10	0.33940	T	0.23	-13.7858	17.5272	0.87804	0.0:0.0:1.0:0.0	.	147;137;147	B4DTL6;O15294-3;O15294	.;.;OGT1_HUMAN	I	147;137;130	ENSP00000362824:V147I;ENSP00000362805:V137I;ENSP00000399729:V130I	ENSP00000362805:V137I	V	+	1	0	OGT	70674624	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.308000	0.96247	2.323000	0.78572	0.525000	0.51046	GTC		0.428	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		13	21	0	0	0	1	0	13	21					A	70757899	G	A	70757899	3	1	48	1	0	0	0	0	1	0	0	0	10856	1145	40	1	449	1	OGT	23	70757899	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	243563	70757899	84512661	4514	8982										
OGT	8473	broad.mit.edu	37	chrX	70793483	70793483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacccagcctgaagaaagttCgtggcaaagtctggaagcaa	11	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70793483C>T	ENST00000373719.3	+	22	3197	c.2980C>T	c.(2980-2982)Cgt>Tgt	p.R994C	OGT_ENST00000373701.3_Missense_Mutation_p.R984C	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	994	Required for phosphatidylinositol 3,4,5- triphosphate binding.				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.R994C(1)|p.R984C(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)					GAAGAAAGTTCGTGGCAAAGT	0.418																																						ENST00000373719.3																			2	Substitution - Missense(2)	p.R994C(1)|p.R984C(1)	large_intestine(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.(2980-2982)Cgt>Tgt		O-linked N-acetylglucosamine (GlcNAc) transferase							97	83	87					X																	70793483		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:70793483C>T	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.2980C>T	X.37:g.70793483C>T	ENSP00000362824:p.Arg994Cys		Somatic				OGT_ENST00000373701.3_Missense_Mutation_p.R984C	p.R994C	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	WXS	Illumina GAIIx	Phase_I	O15294	OGT1_HUMAN			22	3197	+	Renal(35;0.156)		994					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.2980C>T	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183122	0.57800	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.80033	-1.33;-1.33	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.92080	0.7490	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	0.997;1.0;0.999	D	0.94051	0.7318	10	0.87932	D	0	-15.8655	17.3903	0.87428	0.0:1.0:0.0:0.0	.	868;984;994	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	C	994;984	ENSP00000362824:R994C;ENSP00000362805:R984C	ENSP00000362805:R984C	R	+	1	0	OGT	70710208	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.683000	0.61679	2.376000	0.81061	0.600000	0.82982	CGT		0.418	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		16	33	0	0	0	1	0	16	33					T	70793483	C	T	70793483	3	4	48	1	0	0	0	0	1	0	0	0	10856	884	31	1	3066	1	OGT	23	70793483	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	35584	70793483	84477077	4515	8983										
ACRC	93953	broad.mit.edu	37	chrX	70823530	70823530	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgacgatgacaacggtaatGatttggaagttcccgacgac	11	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70823530G>T	ENST00000373695.1	+	7	940	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	ACRC_ENST00000373696.3_Missense_Mutation_p.D135Y			Q96QF7	ACRC_HUMAN	acidic repeat containing	135	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CAACGGTAATGATTTGGAAGT	0.463																																						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.(403-405)Gat>Tat		acidic repeat containing							202	178	186					X																	70823530		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70823530G>T	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.403G>T	X.37:g.70823530G>T	ENSP00000362799:p.Asp135Tyr		Somatic				ACRC_ENST00000373696.3_Missense_Mutation_p.D135Y	p.D135Y			WXS	Illumina GAIIx	Phase_I	Q96QF7	ACRC_HUMAN			7	940	+	Renal(35;0.156)		135			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.403G>T	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	6.031	0.374088	0.11409	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.48836	0.8;0.8	1.05	0.0365	0.14192	.	.	.	.	.	T	0.26122	0.0637	N	0.14661	0.345	0.09310	N	1	B	0.17852	0.024	B	0.11329	0.006	T	0.21348	-1.0248	9	0.87932	D	0	.	3.304	0.06993	0.3287:0.0:0.6713:0.0	.	135	Q96QF7	ACRC_HUMAN	Y	135	ENSP00000362800:D135Y;ENSP00000362799:D135Y	ENSP00000362799:D135Y	D	+	1	0	ACRC	70740255	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	-0.268000	0.08607	-0.054000	0.13266	0.462000	0.41574	GAT		0.463	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			86	161	1	0	6.71967e-41	1	9.7083e-41	86	161					T	70823530	G	T	70823530	3	4	48	1	0	0	0	0	1	0	0	0	171	1290	45	2	429	2	ACRC	23	70823530	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	30047	70823530	84447030	4516	8984										
ACRC	93953	broad.mit.edu	37	chrX	70832208	70832208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcattcttctttcaagaccGaatccgggataccttgatcc	6	12	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70832208G>A	ENST00000373695.1	+	11	2291	c.1754G>A	c.(1753-1755)cGa>cAa	p.R585Q	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Missense_Mutation_p.R585Q			Q96QF7	ACRC_HUMAN	acidic repeat containing	585	SprT-like.					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)					TTTCAAGACCGAATCCGGGAT	0.378																																						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.(1753-1755)cGa>cAa		acidic repeat containing							39	33	35					X																	70832208		2203	4298	6501	SO:0001583	missense	93953					nucleus		g.chrX:70832208G>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.1754G>A	X.37:g.70832208G>A	ENSP00000362799:p.Arg585Gln		Somatic				ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Missense_Mutation_p.R585Q	p.R585Q			WXS	Illumina GAIIx	Phase_I	Q96QF7	ACRC_HUMAN			11	2291	+	Renal(35;0.156)		585					B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1754G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.034650	0.75617	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.47869	0.83;0.83	4.41	4.41	0.53225	Domain of unknown function SprT-like (2);	.	.	.	.	T	0.73009	0.3532	M	0.90705	3.14	0.50171	D	0.999851	D	0.89917	1.0	D	0.91635	0.999	T	0.79685	-0.1700	9	0.87932	D	0	.	13.6825	0.62493	0.0:0.0:1.0:0.0	.	585	Q96QF7	ACRC_HUMAN	Q	585	ENSP00000362800:R585Q;ENSP00000362799:R585Q	ENSP00000362799:R585Q	R	+	2	0	ACRC	70748933	1.000000	0.71417	0.788000	0.31933	0.418000	0.31294	7.215000	0.77966	2.187000	0.69744	0.287000	0.19450	CGA		0.378	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			7	11	0	0	0	1	0	7	11					A	70832208	G	A	70832208	3	1	48	1	0	0	0	0	1	0	0	0	171	1058	37	1	1796	1	ACRC	23	70832208	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	8678	70832208	84438352	4517	8985										
ACRC	93953	broad.mit.edu	37	chrX	70832407	70832407	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaatgtactggatgcaaaacGaggtaagactcttctcagac	10	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70832407G>A	ENST00000373695.1	+	11	2490	c.1953G>A	c.(1951-1953)acG>acA	p.T651T	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Silent_p.T651T			Q96QF7	ACRC_HUMAN	acidic repeat containing	651	SprT-like.					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)					GATGCAAAACGAGGTAAGACT	0.458																																						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.(1951-1953)acG>acA		acidic repeat containing							56	47	50					X																	70832407		2203	4300	6503	SO:0001819	synonymous_variant	93953					nucleus		g.chrX:70832407G>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.1953G>A	X.37:g.70832407G>A			Somatic				ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Silent_p.T651T	p.T651T			WXS	Illumina GAIIx	Phase_I	Q96QF7	ACRC_HUMAN			11	2490	+	Renal(35;0.156)		651					B9EG62	Silent	SNP	ENST00000373695.1	37	c.1953G>A	CCDS35326.1																																																																																				0.458	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			13	14	0	0	0	1	0	13	14					A	70832407	G	A	70832407	2	1	48	1	0	0	0	0	0	0	0	1	171	1045	37	1		1	ACRC	23	70832407	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	199	70832407	84438153	4518	8986										
NHSL2	340527	broad.mit.edu	37	chrX	71358707	71358707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcccacctctggttcctaagGaggctgctaccctccttgtc	8	16	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71358707G>A	ENST00000373677.1	+	2	1473	c.211G>A	c.(211-213)Gag>Aag	p.E71K	NHSL2_ENST00000540800.1_Missense_Mutation_p.E437K|NHSL2_ENST00000535692.1_Missense_Mutation_p.E71K|NHSL2_ENST00000510661.1_Missense_Mutation_p.E206K			Q5HYW2	NHSL2_HUMAN	NHS-like 2	71										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GGTTCCTAAGGAGGCTGCTAC	0.522																																						ENST00000373677.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28						c.(211-213)Gag>Aag		NHS-like 2							51	43	46					X																	71358707		2203	4300	6503	SO:0001583	missense	340527							g.chrX:71358707G>A			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.211G>A	X.37:g.71358707G>A	ENSP00000362781:p.Glu71Lys		Somatic				NHSL2_ENST00000510661.1_Missense_Mutation_p.E206K|NHSL2_ENST00000535692.1_Missense_Mutation_p.E71K|NHSL2_ENST00000540800.1_Missense_Mutation_p.E437K	p.E71K			WXS	Illumina GAIIx	Phase_I	F5H593	F5H593_HUMAN			2	1473	+	Renal(35;0.156)		437					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.211G>A		.	.	.	.	.	.	.	.	.	.	G	14.42	2.531561	0.45073	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.44482	1.53;0.94;0.92;0.94	5.73	4.68	0.58851	.	0.287805	0.32401	N	0.006152	T	0.32255	0.0823	L	0.44542	1.39	0.29657	N	0.84354	B;B;B	0.20550	0.046;0.046;0.046	B;B;B	0.17722	0.019;0.019;0.019	T	0.15263	-1.0443	10	0.14656	T	0.56	-13.9496	11.588	0.50929	0.1049:0.0:0.8951:0.0	.	437;206;71	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	K	437;71;206;71	ENSP00000444617:E437K;ENSP00000362781:E71K;ENSP00000424079:E206K;ENSP00000444914:E71K	ENSP00000362781:E71K	E	+	1	0	NHSL2	71275432	0.004000	0.15560	0.997000	0.53966	0.941000	0.58515	0.377000	0.20552	2.406000	0.81754	0.544000	0.68410	GAG		0.522	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		14	28	0	0	0	1	0	14	28					A	71358707	G	A	71358707	3	1	48	1	0	0	0	0	1	0	0	0	10421	1175	41	3	1331	3	NHSL2	23	71358707	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	526300	71358707	83911853	4519	8987										
NHSL2	340527	broad.mit.edu	37	chrX	71359836	71359836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtcaagctggcccagaaaaCtaatcccaaccagccaatca	6	15	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71359836C>T	ENST00000373677.1	+	2	2602	c.1340C>T	c.(1339-1341)aCt>aTt	p.T447I	NHSL2_ENST00000540800.1_Missense_Mutation_p.T813I|NHSL2_ENST00000535692.1_Missense_Mutation_p.T447I|NHSL2_ENST00000510661.1_Missense_Mutation_p.T582I			Q5HYW2	NHSL2_HUMAN	NHS-like 2	447										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GCCCAGAAAACTAATCCCAAC	0.502																																						ENST00000373677.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28						c.(1339-1341)aCt>aTt		NHS-like 2							83	69	74					X																	71359836		2203	4300	6503	SO:0001583	missense	340527							g.chrX:71359836C>T			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1340C>T	X.37:g.71359836C>T	ENSP00000362781:p.Thr447Ile		Somatic				NHSL2_ENST00000510661.1_Missense_Mutation_p.T582I|NHSL2_ENST00000535692.1_Missense_Mutation_p.T447I|NHSL2_ENST00000540800.1_Missense_Mutation_p.T813I	p.T447I			WXS	Illumina GAIIx	Phase_I	F5H593	F5H593_HUMAN			2	2602	+	Renal(35;0.156)		813					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.1340C>T		.	.	.	.	.	.	.	.	.	.	C	11.78	1.740889	0.30865	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.45276	1.52;0.92;0.9;0.92	5.41	4.54	0.55810	.	0.218004	0.37095	N	0.002245	T	0.37732	0.1014	L	0.47716	1.5	0.32729	N	0.50924	B;B;B	0.25809	0.081;0.135;0.135	B;B;B	0.27500	0.08;0.08;0.08	T	0.50759	-0.8790	10	0.52906	T	0.07	-4.8212	12.1649	0.54125	0.1714:0.8286:0.0:0.0	.	813;582;447	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	I	813;447;582;447	ENSP00000444617:T813I;ENSP00000362781:T447I;ENSP00000424079:T582I;ENSP00000444914:T447I	ENSP00000362781:T447I	T	+	2	0	NHSL2	71276561	0.708000	0.27876	0.996000	0.52242	0.916000	0.54674	1.451000	0.35145	1.246000	0.43901	0.600000	0.82982	ACT		0.502	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		9	19	0	0	0	1	0	9	19					T	71359836	C	T	71359836	3	4	48	1	0	0	0	0	1	0	0	0	10421	565	20	3	2460	3	NHSL2	23	71359836	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1129	71359836	83910724	4520	8988										
ERCC6L	54821	broad.mit.edu	37	chrX	71425104	71425104	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaggggcaccaagagaggtCtcttgagctagagcactagg	14	9	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71425104C>A	ENST00000334463.3	-	2	3648	c.3513G>T	c.(3511-3513)gaG>gaT	p.E1171D	ERCC6L_ENST00000373657.1_Missense_Mutation_p.E1048D|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1171					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)					CAAGAGAGGTCTCTTGAGCTA	0.488																																						ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(3142-3144)gaG>gaT		excision repair cross-complementing rodent repair deficiency, complementation group 6-like							95	84	88					X																	71425104		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:71425104C>A	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.3513G>T	X.37:g.71425104C>A	ENSP00000334675:p.Glu1171Asp		Somatic				PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.E1171D	p.E1048D			WXS	Illumina GAIIx	Phase_I	Q2NKX8	ERC6L_HUMAN			3	3746	-	Renal(35;0.156)		1171					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.3144G>T	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.751128	0.31046	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.91894	-2.9;-2.93	5.49	-1.15	0.09709	.	.	.	.	.	T	0.80265	0.4591	N	0.14661	0.345	0.09310	N	1	B	0.22276	0.067	B	0.19946	0.027	T	0.65763	-0.6089	9	0.22109	T	0.4	-0.5645	4.0698	0.09877	0.2571:0.3305:0.0:0.4124	.	1171	Q2NKX8	ERC6L_HUMAN	D	1048;1171	ENSP00000362761:E1048D;ENSP00000334675:E1171D	ENSP00000334675:E1171D	E	-	3	2	ERCC6L	71341829	0.670000	0.27512	0.000000	0.03702	0.218000	0.24690	0.251000	0.18257	-0.110000	0.12022	-0.268000	0.10319	GAG		0.488	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		34	41	1	0	4.3181e-19	1	5.86915e-19	34	41					A	71425104	C	A	71425104	3	1	48	1	0	0	0	0	1	0	0	0	5220	912	32	2	243	2	ERCC6L	23	71425104	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	65268	71425104	83845456	4521	8989										
ERCC6L	54821	broad.mit.edu	37	chrX	71425342	71425342	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagacctcctagaagccagaGatcttctagagttcatagac	9	10	3	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71425342G>T	ENST00000334463.3	-	2	3410	c.3275C>A	c.(3274-3276)tCt>tAt	p.S1092Y	ERCC6L_ENST00000373657.1_Missense_Mutation_p.S969Y|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1092					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)					AGAAGCCAGAGATCTTCTAGA	0.418																																						ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(2905-2907)tCt>tAt		excision repair cross-complementing rodent repair deficiency, complementation group 6-like							71	74	73					X																	71425342		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:71425342G>T	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.3275C>A	X.37:g.71425342G>T	ENSP00000334675:p.Ser1092Tyr		Somatic				PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.S1092Y	p.S969Y			WXS	Illumina GAIIx	Phase_I	Q2NKX8	ERC6L_HUMAN			3	3508	-	Renal(35;0.156)		1092					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.2906C>A	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749909	0.69533	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.95412	-3.65;-3.7	5.58	5.58	0.84498	.	.	.	.	.	D	0.97123	0.9060	M	0.64997	1.995	0.48288	D	0.99962	D	0.89917	1.0	D	0.85130	0.997	D	0.97758	1.0219	9	0.87932	D	0	-11.3583	15.8227	0.78673	0.0:0.0:1.0:0.0	.	1092	Q2NKX8	ERC6L_HUMAN	Y	969;1092	ENSP00000362761:S969Y;ENSP00000334675:S1092Y	ENSP00000334675:S1092Y	S	-	2	0	ERCC6L	71342067	1.000000	0.71417	0.822000	0.32727	0.789000	0.44602	5.179000	0.65043	2.334000	0.79466	0.594000	0.82650	TCT		0.418	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		21	54	1	0	2.37509e-13	1	3.04217e-13	21	54					T	71425342	G	T	71425342	3	4	48	1	0	0	0	0	1	0	0	0	5220	942	33	2	481	2	ERCC6L	23	71425342	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	238	71425342	83845218	4522	8990										
PHKA1	5255	broad.mit.edu	37	chrX	71802319	71802319	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatgatgcttccgatgctatGaatttcaatatctgccagca	7	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71802319G>T	ENST00000373542.4	-	31	3586	c.3427C>A	c.(3427-3429)Cat>Aat	p.H1143N	PHKA1_ENST00000339490.3_Missense_Mutation_p.H1130N|PHKA1_ENST00000373539.3_Missense_Mutation_p.H1160N|PHKA1_ENST00000541944.1_Missense_Mutation_p.H1071N|PHKA1_ENST00000373545.3_Missense_Mutation_p.H1101N	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1143					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)					CCGATGCTATGAATTTCAATA	0.448																																						ENST00000373545.3																			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.(3301-3303)Cat>Aat		phosphorylase kinase, alpha 1 (muscle)							120	90	100					X																	71802319		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:71802319G>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.3427C>A	X.37:g.71802319G>T	ENSP00000362643:p.His1143Asn		Somatic				PHKA1_ENST00000541944.1_Missense_Mutation_p.H1071N|PHKA1_ENST00000373542.4_Missense_Mutation_p.H1143N|PHKA1_ENST00000373539.3_Missense_Mutation_p.H1160N|PHKA1_ENST00000339490.3_Missense_Mutation_p.H1130N	p.H1101N			WXS	Illumina GAIIx	Phase_I	P46020	KPB1_HUMAN			31	3739	-	Renal(35;0.156)		1143					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.3301C>A	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	G	9.692	1.152139	0.21371	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.90197	-2.63;-2.63;-2.61;-2.62;-2.63	4.97	4.97	0.65823	.	0.188096	0.50627	D	0.000109	T	0.76723	0.4027	N	0.02539	-0.55	0.28546	N	0.911873	B;B;B;B	0.25007	0.116;0.0;0.0;0.0	B;B;B;B	0.15870	0.014;0.001;0.001;0.001	T	0.66771	-0.5839	10	0.23891	T	0.37	-12.9349	14.7414	0.69458	0.0:0.0:1.0:0.0	.	1071;1101;1130;1143	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	N	1101;1143;1071;1130;1160	ENSP00000362646:H1101N;ENSP00000362643:H1143N;ENSP00000441251:H1071N;ENSP00000342469:H1130N;ENSP00000362640:H1160N	ENSP00000342469:H1130N	H	-	1	0	PHKA1	71719044	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.671000	0.46842	2.063000	0.61619	0.538000	0.68166	CAT		0.448	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			18	37	1	0	1.02788e-11	1	1.28326e-11	18	37					T	71802319	G	T	71802319	3	4	48	1	0	0	0	0	1	0	0	0	11852	1290	45	2	252	2	PHKA1	23	71802319	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	376977	71802319	83468241	4523	8991										
NAP1L2	4674	broad.mit.edu	37	chrX	72433253	72433253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaaatcttcagttacagttCggattgttccccagatccga	8	10	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:72433253C>T	ENST00000373517.3	-	1	1431	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	NAP1L2_ENST00000536638.1_Missense_Mutation_p.R217Q	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	359					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					AGTTACAGTTCGGATTGTTCC	0.373																																						ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(1075-1077)cGa>cAa		nucleosome assembly protein 1-like 2							67	59	62					X																	72433253		2203	4300	6503	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433253C>T	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.1076G>A	X.37:g.72433253C>T	ENSP00000362616:p.Arg359Gln		Somatic				NAP1L2_ENST00000536638.1_Missense_Mutation_p.R217Q	p.R359Q	NM_021963.3	NP_068798.1	WXS	Illumina GAIIx	Phase_I	Q9ULW6	NP1L2_HUMAN			1	1431	-	Renal(35;0.156)		359					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.1076G>A	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	c	19.98	3.927436	0.73327	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	T;T	0.30448	1.53;1.53	3.12	3.12	0.35913	.	0.000000	0.85682	U	0.000000	T	0.57198	0.2037	M	0.86343	2.81	0.39198	D	0.963098	D	0.89917	1.0	D	0.81914	0.995	T	0.67518	-0.5650	10	0.87932	D	0	-3.642	11.3559	0.49615	0.0:1.0:0.0:0.0	.	359	Q9ULW6	NP1L2_HUMAN	Q	359;217	ENSP00000362616:R359Q;ENSP00000441555:R217Q	ENSP00000362616:R359Q	R	-	2	0	NAP1L2	72349978	0.993000	0.37304	0.998000	0.56505	0.666000	0.39218	3.565000	0.53798	1.809000	0.52856	0.506000	0.49869	CGA		0.373	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		25	41	0	0	0	1	0	25	41					T	72433253	C	T	72433253	3	4	48	1	0	0	0	0	1	0	0	0	10166	884	31	1	310	1	NAP1L2	23	72433253	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	630934	72433253	82837307	4524	8992										
NAP1L2	4674	broad.mit.edu	37	chrX	72433721	72433721	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatcataataatagtcctcaTaaccatcgtcctcatccaca	2	13	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:72433721T>A	ENST00000373517.3	-	1	963	c.608A>T	c.(607-609)tAt>tTt	p.Y203F	NAP1L2_ENST00000536638.1_Missense_Mutation_p.Y61F	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	203	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					ATAGTCCTCATAACCATCGTC	0.443																																						ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(607-609)tAt>tTt		nucleosome assembly protein 1-like 2							107	81	90					X																	72433721		2203	4300	6503	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433721T>A	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.608A>T	X.37:g.72433721T>A	ENSP00000362616:p.Tyr203Phe		Somatic				NAP1L2_ENST00000536638.1_Missense_Mutation_p.Y61F	p.Y203F	NM_021963.3	NP_068798.1	WXS	Illumina GAIIx	Phase_I	Q9ULW6	NP1L2_HUMAN			1	963	-	Renal(35;0.156)		203			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.608A>T	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	t	4.773	0.143718	0.09134	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	T;T	0.35973	1.52;1.28	3.1	0.593	0.17478	.	1.264310	0.06293	U	0.699453	T	0.25005	0.0607	N	0.22421	0.69	0.25412	N	0.988348	P	0.35208	0.49	B	0.36534	0.227	T	0.27938	-1.0059	10	0.52906	T	0.07	-1.7163	4.6277	0.12486	0.0:0.3042:0.0:0.6958	.	203	Q9ULW6	NP1L2_HUMAN	F	203;61	ENSP00000362616:Y203F;ENSP00000441555:Y61F	ENSP00000362616:Y203F	Y	-	2	0	NAP1L2	72350446	0.354000	0.24912	0.994000	0.49952	0.960000	0.62799	1.093000	0.30939	0.027000	0.15297	0.481000	0.45027	TAT		0.443	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		31	35	0	0	0	1	0	31	35					A	72433721	T	A	72433721	3	1	48	1	0	0	0	0	1	0	0	0	10166	1406	49	4	778	4	NAP1L2	23	72433721	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	468	72433721	82836839	4525	8993										
RLIM	51132	broad.mit.edu	37	chrX	73811355	73811355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agaattctcagataaccagcGatcgatgcagtggacatggt	11	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:73811355G>A	ENST00000332687.6	-	4	2013	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C	RLIM_ENST00000349225.2_Missense_Mutation_p.R599C	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	599					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						GATAACCAGCGATCGATGCAG	0.408																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1795-1797)Cgc>Tgc		ring finger protein, LIM domain interacting							120	97	105					X																	73811355		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811355G>A	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.1795C>T	X.37:g.73811355G>A	ENSP00000328059:p.Arg599Cys		Somatic				RLIM_ENST00000349225.2_Missense_Mutation_p.R599C	p.R599C	NM_016120.3	NP_057204.2	WXS	Illumina GAIIx	Phase_I	Q9NVW2	RNF12_HUMAN			4	2013	-			599					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1795C>T	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525110	0.64747	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.67865	-0.29;-0.29	5.41	5.41	0.78517	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.81365	0.4807	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83418	0.0031	10	0.87932	D	0	-2.596	18.3592	0.90370	0.0:0.0:1.0:0.0	.	599	Q9NVW2	RNF12_HUMAN	C	599	ENSP00000328059:R599C;ENSP00000253571:R599C	ENSP00000328059:R599C	R	-	1	0	RLIM	73728080	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.416000	0.97383	2.275000	0.75901	0.600000	0.82982	CGC		0.408	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		37	47	0	0	0	1	0	37	47					A	73811355	G	A	73811355	3	1	48	1	0	0	0	0	1	0	0	0	13405	1058	37	1	83	1	RLIM	23	73811355	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1377634	73811355	81459205	4526	8994										
ABCB7	22	broad.mit.edu	37	chrX	74282175	74282175	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taacttacctcttcagtaatCgaatctaacgatgaagtagc	6	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:74282175C>T	ENST00000373394.3	-	14	1930	c.1923G>A	c.(1921-1923)tcG>tcA	p.S641S	ABCB7_ENST00000534570.1_5'Flank|ABCB7_ENST00000339447.4_Silent_p.S601S|ABCB7_ENST00000253577.3_Silent_p.S642S			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	641	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CTTCAGTAATCGAATCTAACG	0.353																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(1924-1926)tcG>tcA		ATP-binding cassette, sub-family B (MDR/TAP), member 7							74	66	69					X																	74282175		2203	4300	6503	SO:0001819	synonymous_variant	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:74282175C>T	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.1923G>A	X.37:g.74282175C>T			Somatic				ABCB7_ENST00000373394.3_Silent_p.S641S|ABCB7_ENST00000339447.4_Silent_p.S601S	p.S642S	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	WXS	Illumina GAIIx	Phase_I	O75027	ABCB7_HUMAN			14	1950	-			641			ABC transporter.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Silent	SNP	ENST00000373394.3	37	c.1926G>A																																																																																					0.353	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		11	16	0	0	0	1	0	11	16					T	74282175	C	T	74282175	2	4	48	1	0	0	0	0	0	0	0	1	46	871	31	1		1	ABCB7	23	74282175	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	470820	74282175	80988385	4527	8995										
ABCB7	22	broad.mit.edu	37	chrX	74318853	74318853	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtctttgggccacacataaGaaagcattgcttttatgatt	8	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:74318853G>T	ENST00000373394.3	-	4	384	c.377C>A	c.(376-378)tCt>tAt	p.S126Y	ABCB7_ENST00000339447.4_Intron|ABCB7_ENST00000253577.3_Missense_Mutation_p.S127Y			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	126					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)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CCACACATAAGAAAGCATTGC	0.373																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(379-381)tCt>tAt		ATP-binding cassette, sub-family B (MDR/TAP), member 7							106	88	94					X																	74318853		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:74318853G>T	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.377C>A	X.37:g.74318853G>T	ENSP00000362492:p.Ser126Tyr		Somatic				ABCB7_ENST00000373394.3_Missense_Mutation_p.S126Y|ABCB7_ENST00000339447.4_Intron	p.S127Y	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	WXS	Illumina GAIIx	Phase_I	O75027	ABCB7_HUMAN			4	404	-			126					G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.380C>A		.	.	.	.	.	.	.	.	.	.	G	25.4	4.633142	0.87660	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000373394;ENST00000529949;ENST00000534524;ENST00000526404	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	5.68	5.68	0.88126	ABC transporter, transmembrane domain, type 1 (1);	0.050134	0.85682	D	0.000000	D	0.93132	0.7813	L	0.39898	1.24	0.58432	D	0.99999	P;P;D	0.54047	0.905;0.726;0.964	P;B;P	0.58721	0.6;0.396;0.844	D	0.93827	0.7124	10	0.87932	D	0	0.8793	16.2258	0.82288	0.0:0.0:1.0:0.0	.	100;126;127	G3V1J3;O75027;O75027-2	.;ABCB7_HUMAN;.	Y	100;127;126;100;71;139	ENSP00000253577:S127Y;ENSP00000362492:S126Y;ENSP00000436586:S100Y;ENSP00000435521:S71Y	ENSP00000253577:S127Y	S	-	2	0	ABCB7	74235578	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.790000	0.91844	2.524000	0.85096	0.544000	0.68410	TCT		0.373	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		18	36	1	0	3.52763e-06	1	3.92945e-06	18	36					T	74318853	G	T	74318853	3	4	48	1	0	0	0	0	1	0	0	0	46	942	33	2	1933	2	ABCB7	23	74318853	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	36678	74318853	80951707	4528	8996										
MAGEE1	57692	broad.mit.edu	37	chrX	75650001	75650001	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgaggcacacacctacattCtgttaaacaaactgggacct	7	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:75650001C>A	ENST00000361470.2	+	1	1956	c.1678C>A	c.(1678-1680)Ctg>Atg	p.L560M		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	560	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACCTACATTCTGTTAAACAA	0.483																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(1678-1680)Ctg>Atg		melanoma antigen family E, 1							34	30	32					X																	75650001		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650001C>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1678C>A	X.37:g.75650001C>A	ENSP00000354912:p.Leu560Met		Somatic					p.L560M	NM_020932.2	NP_065983.1	WXS	Illumina GAIIx	Phase_I	Q9HCI5	MAGE1_HUMAN			1	1956	+			560			MAGE 1.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1678C>A	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	4.212	0.038202	0.08148	.	.	ENSG00000198934	ENST00000361470	T	0.16196	2.36	2.34	1.46	0.22682	.	.	.	.	.	T	0.37489	0.1005	M	0.81802	2.56	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11131	-1.0600	9	0.87932	D	0	.	4.3531	0.11165	0.0:0.7943:0.0:0.2057	.	560	Q9HCI5	MAGE1_HUMAN	M	560	ENSP00000354912:L560M	ENSP00000354912:L560M	L	+	1	2	MAGEE1	75566405	0.999000	0.42202	0.023000	0.16930	0.003000	0.03518	0.913000	0.28611	0.403000	0.25479	0.594000	0.82650	CTG		0.483	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		12	26	1	0	0.00010058	1	0.000108553	12	26					A	75650001	C	A	75650001	3	1	48	1	0	0	0	0	1	0	0	0	9194	912	32	2	1680	2	MAGEE1	23	75650001	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1331148	75650001	79620559	4529	8997										
ATRX	546	broad.mit.edu	37	chrX	76813007	76813007	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctcaaaagtataaagttcaGtaagctcattcatagtaaaa	6	6	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:76813007G>T	ENST00000373344.5	-	30	6828	c.6614C>A	c.(6613-6615)aCt>aAt	p.T2205N	ATRX_ENST00000395603.3_Missense_Mutation_p.T2167N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2205	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				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						ATAAAGTTCAGTAAGCTCATT	0.383			"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.(6613-6615)aCt>aAt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						149	139	142					X																	76813007		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:76813007G>T	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.6614C>A	X.37:g.76813007G>T	ENSP00000362441:p.Thr2205Asn		Somatic				ATRX_ENST00000395603.3_Missense_Mutation_p.T2167N|ATRX_ENST00000480283.1_5'UTR	p.T2205N	NM_000489.3	NP_000480.2	WXS	Illumina GAIIx	Phase_I	P46100	ATRX_HUMAN			30	6828	-			2205			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6614C>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.366091	0.61513	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92299	-3.01;-3.01	5.56	5.56	0.83823	Helicase, C-terminal (1);	0.133660	0.50627	D	0.000104	D	0.93690	0.7984	L	0.39898	1.24	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74674	0.984;0.957	D	0.91542	0.5250	10	0.19147	T	0.46	-12.638	18.5299	0.90987	0.0:0.0:1.0:0.0	.	2167;2205	P46100-4;P46100	.;ATRX_HUMAN	N	2205;2167	ENSP00000362441:T2205N;ENSP00000378967:T2167N	ENSP00000362441:T2205N	T	-	2	0	ATRX	76699663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.471000	0.97696	2.319000	0.78375	0.594000	0.82650	ACT		0.383	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		14	94	1	0	1.05317e-09	1	1.27574e-09	14	94					T	76813007	G	T	76813007	3	4	48	1	0	0	0	0	1	0	0	0	1208	1029	36	5	888	5	ATRX	23	76813007	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1163006	76813007	78457553	4530	8998										
ATRX	546	broad.mit.edu	37	chrX	76888737	76888737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaatatttctttaagtttccGactcttcacattccttcctt	2	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:76888737G>A	ENST00000373344.5	-	19	5306	c.5092C>T	c.(5092-5094)Cgg>Tgg	p.R1698W	ATRX_ENST00000395603.3_Missense_Mutation_p.R1660W|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1698	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						TTAAGTTTCCGACTCTTCACA	0.358			"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.(5092-5094)Cgg>Tgg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						214	223	220					X																	76888737		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:76888737G>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.5092C>T	X.37:g.76888737G>A	ENSP00000362441:p.Arg1698Trp		Somatic				ATRX_ENST00000395603.3_Missense_Mutation_p.R1660W|ATRX_ENST00000480283.1_5'UTR	p.R1698W	NM_000489.3	NP_000480.2	WXS	Illumina GAIIx	Phase_I	P46100	ATRX_HUMAN			19	5306	-			1698			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5092C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694635	0.48202	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93307	-3.2;-3.2	5.64	3.52	0.40303	DEAD-like helicase (2);SNF2-related (1);	0.063082	0.64402	D	0.000007	D	0.95490	0.8535	L	0.61387	1.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.991	D	0.94720	0.7900	10	0.87932	D	0	-7.167	12.8399	0.57794	0.0:0.0:0.1854:0.8146	.	1660;1698	P46100-4;P46100	.;ATRX_HUMAN	W	1698;1660	ENSP00000362441:R1698W;ENSP00000378967:R1660W	ENSP00000362441:R1698W	R	-	1	2	ATRX	76775393	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.493000	0.53266	0.393000	0.25203	-0.213000	0.12676	CGG		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		33	206	0	0	0	1	0	33	206					A	76888737	G	A	76888737	3	1	48	1	0	0	0	0	1	0	0	0	1208	1057	37	1	2454	1	ATRX	23	76888737	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	75730	76888737	78381823	4531	8999										
ATRX	546	broad.mit.edu	37	chrX	76907620	76907620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttacctctctcaatttttctCgctcacgctccctctcagca	3	17	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:76907620C>T	ENST00000373344.5	-	15	4755	c.4541G>A	c.(4540-4542)cGa>cAa	p.R1514Q	ATRX_ENST00000395603.3_Missense_Mutation_p.R1476Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1514					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						CAATTTTTCTCGCTCACGCTC	0.428			"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.(4540-4542)cGa>cAa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						275	239	251					X																	76907620		2203	4300	6503	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:76907620C>T	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.4541G>A	X.37:g.76907620C>T	ENSP00000362441:p.Arg1514Gln		Somatic				ATRX_ENST00000395603.3_Missense_Mutation_p.R1476Q|ATRX_ENST00000480283.1_5'UTR	p.R1514Q	NM_000489.3	NP_000480.2	WXS	Illumina GAIIx	Phase_I	P46100	ATRX_HUMAN			15	4755	-			1514					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4541G>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.738977	0.69304	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	T;T	0.20738	2.05;2.05	4.9	4.9	0.64082	.	0.069353	0.53938	N	0.000041	T	0.40473	0.1118	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.984	T	0.09443	-1.0674	10	0.30854	T	0.27	-6.1781	16.8775	0.86056	0.0:1.0:0.0:0.0	.	1476;1514	P46100-4;P46100	.;ATRX_HUMAN	Q	1514;1476	ENSP00000362441:R1514Q;ENSP00000378967:R1476Q	ENSP00000362441:R1514Q	R	-	2	0	ATRX	76794276	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	6.301000	0.72782	2.002000	0.58637	0.594000	0.82650	CGA		0.428	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		12	150	0	0	0	1	0	12	150					T	76907620	C	T	76907620	3	4	48	1	0	0	0	0	1	0	0	0	1208	884	31	1	3021	1	ATRX	23	76907620	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	18883	76907620	78362940	4532	9000										
LPAR4	2846	broad.mit.edu	37	chrX	78010799	78010799	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggccattgtctatccttttCgatctcgtactattaggact	7	10	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:78010799C>T	ENST00000435339.3	+	2	819	c.433C>T	c.(433-435)Cga>Tga	p.R145*		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	145					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						CTATCCTTTTCGATCTCGTAC	0.463																																						ENST00000435339.2																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(433-435)Cga>Tga		lysophosphatidic acid receptor 4							215	147	170					X																	78010799		2203	4300	6503	SO:0001587	stop_gained	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010799C>T	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.433C>T	X.37:g.78010799C>T	ENSP00000408205:p.Arg145*		Somatic				LPAR4_ENST00000373301.2_Nonsense_Mutation_p.R145*	p.R145*	NM_005296.2	NP_005287.1	WXS	Illumina GAIIx	Phase_I	Q99677	LPAR4_HUMAN			2	838	+			145					B2RAC7|O15132|Q502U9|Q6NSP5	Nonsense_Mutation	SNP	ENST00000435339.3	37	c.433C>T	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	38	6.883231	0.97908	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	.	.	.	4.21	2.35	0.29111	.	0.074980	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8502	0.35194	0.1596:0.6707:0.1696:0.0	.	.	.	.	X	145	.	ENSP00000362398:R145X	R	+	1	2	LPAR4	77897455	0.995000	0.38212	0.993000	0.49108	0.947000	0.59692	1.318000	0.33643	0.216000	0.20781	0.422000	0.28245	CGA		0.463	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		35	69	0	0	0	1	0	35	69					T	78010799	C	T	78010799	4	4	48	1	0	0	0	0	0	1	0	0	8916	876	31	1	435	1	LPAR4	23	78010799	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1103179	78010799	77259761	4533	9001										
P2RY10	27334	broad.mit.edu	37	chrX	78216975	78216975	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgaccaactatcccgccatGgcagttctgtgacccgctcc	9	16	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:78216975G>T	ENST00000171757.2	+	4	1238	c.958G>T	c.(958-960)Ggc>Tgc	p.G320C	P2RY10_ENST00000544091.1_Missense_Mutation_p.G320C	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	320						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						ATCCCGCCATGGCAGTTCTGT	0.448																																						ENST00000171757.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(958-960)Ggc>Tgc		purinergic receptor P2Y, G-protein coupled, 10							110	104	106					X																	78216975		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216975G>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.958G>T	X.37:g.78216975G>T	ENSP00000171757:p.Gly320Cys		Somatic				P2RY10_ENST00000544091.1_Missense_Mutation_p.G320C	p.G320C	NM_014499.2	NP_055314.1	WXS	Illumina GAIIx	Phase_I	O00398	P2Y10_HUMAN			4	1238	+			320					D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.958G>T	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	G	6.395	0.440951	0.12164	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.36340	1.26;1.26	4.89	0.16	0.14972	.	0.205175	0.40818	N	0.001020	T	0.20373	0.0490	N	0.19112	0.55	0.29858	N	0.827858	B	0.20550	0.046	B	0.18871	0.023	T	0.10382	-1.0632	10	0.36615	T	0.2	.	9.3042	0.37865	0.5086:0.0:0.4913:0.0	.	320	O00398	P2Y10_HUMAN	C	320	ENSP00000443138:G320C;ENSP00000171757:G320C	ENSP00000171757:G320C	G	+	1	0	P2RY10	78103631	.	.	0.002000	0.10522	0.577000	0.36160	.	.	-0.337000	0.08426	-0.195000	0.12781	GGC		0.448	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			6	105	1	0	0.000673444	1	0.000709932	6	105					T	78216975	G	T	78216975	3	4	48	1	0	0	0	0	1	0	0	0	11356	1348	47	5	960	5	P2RY10	23	78216975	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	206176	78216975	77053585	4534	9002										
BRWD3	254065	broad.mit.edu	37	chrX	79932179	79932179	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acgcactctgcctgatctggAtgtaccaagattcagaggat	10	10	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79932179A>G	ENST00000373275.4	-	41	5554	c.5338T>C	c.(5338-5340)Tcc>Ccc	p.S1780P	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1780					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						CCTGATCTGGATGTACCAAGA	0.348																																						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.(5338-5340)Tcc>Ccc		bromodomain and WD repeat domain containing 3							69	59	62					X																	79932179		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932179A>G		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.5338T>C	X.37:g.79932179A>G	ENSP00000362372:p.Ser1780Pro		Somatic					p.S1780P	NM_153252.4	NP_694984.4	WXS	Illumina GAIIx	Phase_I	Q6RI45	BRWD3_HUMAN			41	5554	-			1780					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.5338T>C	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.009649	0.35415	.	.	ENSG00000165288	ENST00000373275	T	0.73897	-0.79	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.76870	0.4048	L	0.29908	0.895	0.51767	D	0.999933	D	0.65815	0.995	D	0.70487	0.969	T	0.75419	-0.3324	9	.	.	.	-4.5218	12.9298	0.58280	1.0:0.0:0.0:0.0	.	1780	Q6RI45	BRWD3_HUMAN	P	1780	ENSP00000362372:S1780P	.	S	-	1	0	BRWD3	79818835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.224000	0.89781	1.692000	0.51112	0.417000	0.27973	TCC		0.348	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		18	22	0	0	0	1	0	18	22					G	79932179	A	G	79932179	3	3	48	1	0	0	0	0	1	0	0	0	1528	333	12	4	74	4	BRWD3	23	79932179	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1715204	79932179	75338381	4535	9003										
BRWD3	254065	broad.mit.edu	37	chrX	79932799	79932799	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgatgcactaagtagttttCtcttgattcctgtccggggc	10	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79932799C>A	ENST00000373275.4	-	41	4934	c.4718G>T	c.(4717-4719)aGa>aTa	p.R1573I	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1573					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						AAGTAGTTTTCTCTTGATTCC	0.368																																						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.(4717-4719)aGa>aTa		bromodomain and WD repeat domain containing 3							44	41	42					X																	79932799		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932799C>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.4718G>T	X.37:g.79932799C>A	ENSP00000362372:p.Arg1573Ile		Somatic				BRWD3_ENST00000473691.1_5'UTR	p.R1573I	NM_153252.4	NP_694984.4	WXS	Illumina GAIIx	Phase_I	Q6RI45	BRWD3_HUMAN			41	4934	-			1573					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4718G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945639	0.53079	.	.	ENSG00000165288	ENST00000373275	T	0.59502	0.26	4.22	4.22	0.49857	.	0.123452	0.53938	D	0.000057	T	0.67795	0.2931	L	0.47190	1.495	0.58432	D	0.999995	D	0.61697	0.99	D	0.66497	0.944	T	0.67496	-0.5656	9	.	.	.	-12.2099	15.9652	0.79966	0.0:1.0:0.0:0.0	.	1573	Q6RI45	BRWD3_HUMAN	I	1573	ENSP00000362372:R1573I	.	R	-	2	0	BRWD3	79819455	1.000000	0.71417	0.978000	0.43139	0.983000	0.72400	5.090000	0.64498	1.930000	0.55929	0.506000	0.49869	AGA		0.368	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		16	18	1	0	2.23348e-06	1	2.50077e-06	16	18					A	79932799	C	A	79932799	3	1	48	1	0	0	0	0	1	0	0	0	1528	913	32	2	694	2	BRWD3	23	79932799	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	620	79932799	75337761	4536	9004										
BRWD3	254065	broad.mit.edu	37	chrX	79947407	79947407	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccccactctccttcctggggTttgtatagcaaagcagtcaa	8	13	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79947407T>C	ENST00000373275.4	-	30	3612	c.3396A>G	c.(3394-3396)aaA>aaG	p.K1132K	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1132					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						CTTCCTGGGGTTTGTATAGCA	0.448																																						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.(3394-3396)aaA>aaG		bromodomain and WD repeat domain containing 3							64	53	57					X																	79947407		2203	4300	6503	SO:0001819	synonymous_variant	254065							g.chrX:79947407T>C		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.3396A>G	X.37:g.79947407T>C			Somatic				BRWD3_ENST00000473691.1_5'UTR	p.K1132K	NM_153252.4	NP_694984.4	WXS	Illumina GAIIx	Phase_I	Q6RI45	BRWD3_HUMAN			30	3612	-			1132					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.3396A>G	CCDS14447.1																																																																																				0.448	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		11	23	0	0	0	1	0	11	23					C	79947407	T	C	79947407	2	2	48	1	0	0	0	0	0	0	0	1	1528	1722	60	4		4	BRWD3	23	79947407	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	14608	79947407	75323153	4537	9005										
BRWD3	254065	broad.mit.edu	37	chrX	79951425	79951425	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accaatctgccagttcctttCtttggcttcattataaaact	4	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79951425C>A	ENST00000373275.4	-	27	3349	c.3133G>T	c.(3133-3135)Gaa>Taa	p.E1045*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1045					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						CAGTTCCTTTCTTTGGCTTCA	0.308																																						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.(3133-3135)Gaa>Taa		bromodomain and WD repeat domain containing 3							77	71	73					X																	79951425		2203	4292	6495	SO:0001587	stop_gained	254065							g.chrX:79951425C>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.3133G>T	X.37:g.79951425C>A	ENSP00000362372:p.Glu1045*		Somatic				BRWD3_ENST00000473691.1_5'UTR	p.E1045*	NM_153252.4	NP_694984.4	WXS	Illumina GAIIx	Phase_I	Q6RI45	BRWD3_HUMAN			27	3349	-			1045					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Nonsense_Mutation	SNP	ENST00000373275.4	37	c.3133G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	44	11.207682	0.99531	.	.	ENSG00000165288	ENST00000373275	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.7727	17.9069	0.88921	0.0:1.0:0.0:0.0	.	.	.	.	X	1045	.	.	E	-	1	0	BRWD3	79838081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.519000	0.84933	0.538000	0.68166	GAA		0.308	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		6	15	1	0	0.00198382	1	0.00207034	6	15					A	79951425	C	A	79951425	4	1	48	1	0	0	0	0	0	1	0	0	1528	922	32	2	2335	2	BRWD3	23	79951425	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4018	79951425	75319135	4538	9006										
BRWD3	254065	broad.mit.edu	37	chrX	79979252	79979252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttaaatatgctaaccttttCgtagtatttactgcatccaa	4	8	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79979252C>T	ENST00000373275.4	-	16	1861	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	549					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						ctaacctttTCGTAGTATTTA	0.343																																						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.(1645-1647)Gaa>Aaa		bromodomain and WD repeat domain containing 3							71	65	67					X																	79979252		2202	4300	6502	SO:0001583	missense	254065							g.chrX:79979252C>T		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.1645G>A	X.37:g.79979252C>T	ENSP00000362372:p.Glu549Lys		Somatic					p.E549K	NM_153252.4	NP_694984.4	WXS	Illumina GAIIx	Phase_I	Q6RI45	BRWD3_HUMAN			16	1861	-			549					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1645G>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	8.925	0.961971	0.18583	.	.	ENSG00000165288	ENST00000373275	T	0.39229	1.09	4.5	3.64	0.41730	.	0.056287	0.64402	N	0.000002	T	0.28566	0.0707	L	0.39245	1.2	0.48087	D	0.999583	B	0.33073	0.396	B	0.22880	0.042	T	0.05241	-1.0897	9	.	.	.	-17.7997	10.4548	0.44544	0.0:0.9065:0.0:0.0935	.	549	Q6RI45	BRWD3_HUMAN	K	549	ENSP00000362372:E549K	.	E	-	1	0	BRWD3	79865908	1.000000	0.71417	0.996000	0.52242	0.583000	0.36354	5.631000	0.67812	0.911000	0.36747	-0.426000	0.05927	GAA		0.343	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		16	24	0	0	0	1	0	16	24					T	79979252	C	T	79979252	3	4	48	1	0	0	0	0	1	0	0	0	1528	893	31	1	3867	1	BRWD3	23	79979252	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	27827	79979252	75291308	4539	9007										
BRWD3	254065	broad.mit.edu	37	chrX	79980449	79980449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	taccatgttaaagtaattccGaattttggtcccccggtcaa	7	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79980449G>A	ENST00000373275.4	-	15	1720	c.1504C>T	c.(1504-1506)Cgg>Tgg	p.R502W	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	502					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						AAGTAATTCCGAATTTTGGTC	0.368																																						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.(1504-1506)Cgg>Tgg		bromodomain and WD repeat domain containing 3							98	86	90					X																	79980449		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79980449G>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.1504C>T	X.37:g.79980449G>A	ENSP00000362372:p.Arg502Trp		Somatic					p.R502W	NM_153252.4	NP_694984.4	WXS	Illumina GAIIx	Phase_I	Q6RI45	BRWD3_HUMAN			15	1720	-			502					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.1504C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881620	0.72294	.	.	ENSG00000165288	ENST00000373275	T	0.42131	0.98	5.25	4.36	0.52297	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	L	0.55213	1.73	0.50813	D	0.999891	D	0.76494	0.999	D	0.63703	0.917	T	0.54807	-0.8238	9	.	.	.	-8.6066	14.1757	0.65539	0.0:0.0:0.8495:0.1505	.	502	Q6RI45	BRWD3_HUMAN	W	502	ENSP00000362372:R502W	.	R	-	1	2	BRWD3	79867105	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.109000	0.71528	1.138000	0.42230	0.600000	0.82982	CGG		0.368	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		13	29	0	0	0	1	0	13	29					A	79980449	G	A	79980449	3	1	48	1	0	0	0	0	1	0	0	0	1528	1057	37	1	4012	1	BRWD3	23	79980449	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1197	79980449	75290111	4540	9008										
POU3F4	5456	broad.mit.edu	37	chrX	82763427	82763427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcagcaggggagtcctttccGcaaccctcagaaacttctcc	9	15	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:82763427G>A	ENST00000373200.2	+	1	159	c.95G>A	c.(94-96)cGc>cAc	p.R32H	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	32					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGTCCTTTCCGCAACCCTCAG	0.597																																						ENST00000373200.2																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						c.(94-96)cGc>cAc		POU class 3 homeobox 4							53	40	44					X																	82763427		2203	4300	6503	SO:0001583	missense	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82763427G>A	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"Homeoboxes / POU class"	9217	protein-coding gene	gene with protein product	"brain-4"	300039	"POU domain class 3, transcription factor 4"	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.95G>A	X.37:g.82763427G>A	ENSP00000362296:p.Arg32His		Somatic				RP3-326L13.2_ENST00000607095.1_RNA	p.R32H	NM_000307.3	NP_000298.2	WXS	Illumina GAIIx	Phase_I	P49335	PO3F4_HUMAN			1	159	+			32					B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	c.95G>A	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872459	0.51695	.	.	ENSG00000196767	ENST00000373200	D	0.89050	-2.46	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.86201	0.5876	M	0.72353	2.195	0.54753	D	0.999989	P	0.48230	0.907	B	0.34242	0.178	D	0.89209	0.3563	10	0.87932	D	0	.	15.2276	0.73361	0.0:0.0:1.0:0.0	.	32	P49335	PO3F4_HUMAN	H	32	ENSP00000362296:R32H	ENSP00000362296:R32H	R	+	2	0	POU3F4	82650083	1.000000	0.71417	0.982000	0.44146	0.177000	0.22998	6.523000	0.73787	2.187000	0.69744	0.597000	0.82753	CGC		0.597	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		18	23	0	0	0	1	0	18	23					A	82763427	G	A	82763427	3	1	48	1	0	0	0	0	1	0	0	0	12286	1087	38	1	97	1	POU3F4	23	82763427	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2782978	82763427	72507133	4541	9009										
POU3F4	5456	broad.mit.edu	37	chrX	82764037	82764037	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagaccaccatctgcaggttCgaaggcttgcagctgagctt	11	12	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:82764037C>A	ENST00000373200.2	+	1	769	c.705C>A	c.(703-705)ttC>ttA	p.F235L	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	235	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TCTGCAGGTTCGAAGGCTTGC	0.562																																						ENST00000373200.2																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						c.(703-705)ttC>ttA		POU class 3 homeobox 4							72	56	62					X																	82764037		2203	4300	6503	SO:0001583	missense	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82764037C>A	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"Homeoboxes / POU class"	9217	protein-coding gene	gene with protein product	"brain-4"	300039	"POU domain class 3, transcription factor 4"	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.705C>A	X.37:g.82764037C>A	ENSP00000362296:p.Phe235Leu		Somatic				RP3-326L13.2_ENST00000607095.1_RNA	p.F235L	NM_000307.3	NP_000298.2	WXS	Illumina GAIIx	Phase_I	P49335	PO3F4_HUMAN			1	769	+			235			POU-specific.		B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	c.705C>A	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308652	0.60305	.	.	ENSG00000196767	ENST00000373200	D	0.94138	-3.36	5.05	2.34	0.29019	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.96975	0.9012	H	0.94264	3.515	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.95355	0.8450	10	0.87932	D	0	.	8.2401	0.31654	0.0:0.6727:0.0:0.3273	.	235	P49335	PO3F4_HUMAN	L	235	ENSP00000362296:F235L	ENSP00000362296:F235L	F	+	3	2	POU3F4	82650693	0.992000	0.36948	1.000000	0.80357	0.889000	0.51656	0.400000	0.20932	0.138000	0.18790	-0.312000	0.09012	TTC		0.562	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		25	51	1	0	2.47511e-08	1	2.91589e-08	25	51					A	82764037	C	A	82764037	3	1	48	1	0	0	0	0	1	0	0	0	12286	883	31	2	707	2	POU3F4	23	82764037	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	610	82764037	72506523	4542	9010										
CYLC1	1538	broad.mit.edu	37	chrX	83127903	83127903	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatcttttcagagacatgacAaaagaaaactagaagaaggc	8	6	2	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:83127903A>C	ENST00000329312.4	+	4	224	c.187A>C	c.(187-189)Aaa>Caa	p.K63Q		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	63					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAGACATGACAAAAGAAAACT	0.318																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(187-189)Aaa>Caa		cylicin, basic protein of sperm head cytoskeleton 1							19	19	19					X																	83127903		2192	4284	6476	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83127903A>C	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.187A>C	X.37:g.83127903A>C	ENSP00000331556:p.Lys63Gln		Somatic					p.K63Q	NM_021118.1	NP_066941.1	WXS	Illumina GAIIx	Phase_I	P35663	CYLC1_HUMAN			4	224	+			63					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.187A>C	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	a	0.146	-1.096364	0.01843	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.50001	0.76	4.58	-0.965	0.10323	.	.	.	.	.	T	0.35068	0.0919	L	0.46157	1.445	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.16289	0.015;0.015	T	0.25779	-1.0122	9	0.39692	T	0.17	-1.4869	4.8625	0.13590	0.5134:0.2963:0.1903:0.0	.	63;63	P35663;F5H4V5	CYLC1_HUMAN;.	Q	63	ENSP00000331556:K63Q	ENSP00000331556:K63Q	K	+	1	0	CYLC1	83014559	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.051000	0.14141	-0.345000	0.08325	-2.515000	0.00186	AAA		0.318	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		5	15	0	0	0	1	0	5	15					C	83127903	A	C	83127903	3	2	48	1	0	0	0	0	1	0	0	0	4143	131	5	4	201	4	CYLC1	23	83127903	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	363866	83127903	72142657	4543	9011										
HDX	139324	broad.mit.edu	37	chrX	83730395	83730395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttctacagtaaatacagaaCgtagattcatctaaaaataa	5	6	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:83730395C>T	ENST00000297977.5	-	2	122	c.11G>A	c.(10-12)cGt>cAt	p.R4H	HDX_ENST00000373177.2_Missense_Mutation_p.R4H|HDX_ENST00000506585.2_Intron	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	4						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R4H(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AAATACAGAACGTAGATTCAT	0.269																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			1	Substitution - Missense(1)	p.R4H(1)	large_intestine(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(10-12)cGt>cAt		highly divergent homeobox							41	34	36					X																	83730395		2202	4295	6497	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83730395C>T	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.11G>A	X.37:g.83730395C>T	ENSP00000297977:p.Arg4His		Somatic				HDX_ENST00000506585.2_Intron|HDX_ENST00000373177.2_Missense_Mutation_p.R4H	p.R4H	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	WXS	Illumina GAIIx	Phase_I	Q7Z353	HDX_HUMAN			2	122	-			4					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.11G>A	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858607	0.91433	.	.	ENSG00000165259	ENST00000297977;ENST00000506585	T;T	0.61274	0.12;0.12	6.16	6.16	0.99307	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.77350	0.4117	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78247	-0.2278	10	0.87932	D	0	-10.6332	19.7181	0.96131	0.0:1.0:0.0:0.0	.	4	Q7Z353	HDX_HUMAN	H	4	ENSP00000297977:R4H;ENSP00000423670:R4H	ENSP00000297977:R4H	R	-	2	0	HDX	83617051	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.264000	0.78432	2.614000	0.88457	0.594000	0.82650	CGT		0.269	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		9	17	0	0	0	1	0	9	17					T	83730395	C	T	83730395	3	4	48	1	0	0	0	0	1	0	0	0	7035	536	19	1	2097	1	HDX	23	83730395	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	602492	83730395	71540165	4544	9012										
APOOL	139322	broad.mit.edu	37	chrX	84301495	84301495	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcaggtctgatatatgcatCtgtaagtgtacatgcagcca	10	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:84301495C>A	ENST00000373173.2	+	2	146	c.59C>A	c.(58-60)tCt>tAt	p.S20Y		NM_198450.5	NP_940852.3	Q6UXV4	MIC27_HUMAN	apolipoprotein O-like	20						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						ATATATGCATCTGTAAGTGTA	0.358																																						ENST00000373173.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(58-60)tCt>tAt		apolipoprotein O-like							84	76	78					X																	84301495		1865	4085	5950	SO:0001583	missense	139322					extracellular region		g.chrX:84301495C>A	AK130506	CCDS48138.1	Xq21.1	2007-01-17	2007-01-17	2007-01-17	ENSG00000155008	ENSG00000155008			24009	protein-coding gene	gene with protein product			"chromosome X open reading frame 33", "family with sequence similarity 121A"	CXorf33, FAM121A		12975309	Standard	NM_198450		Approved	UNQ8193, AAIR8193	uc004eem.3	Q6UXV4	OTTHUMG00000021930	ENST00000373173.2:c.59C>A	X.37:g.84301495C>A	ENSP00000362268:p.Ser20Tyr		Somatic					p.S20Y	NM_198450.5	NP_940852.3	WXS	Illumina GAIIx	Phase_I	Q6UXV4	APOOL_HUMAN			2	146	+			20					Q3KNU7|Q5H9D1	Missense_Mutation	SNP	ENST00000373173.2	37	c.59C>A	CCDS48138.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092714	0.36952	.	.	ENSG00000155008	ENST00000373173;ENST00000373169	.	.	.	4.53	3.66	0.41972	.	0.187317	0.47093	D	0.000245	T	0.70649	0.3248	M	0.70275	2.135	0.34249	D	0.678549	D	0.71674	0.998	D	0.65573	0.936	T	0.79811	-0.1646	9	0.72032	D	0.01	-13.5938	10.6217	0.45484	0.0:0.9011:0.0:0.0989	.	20	Q6UXV4	APOOL_HUMAN	Y	20	.	ENSP00000362264:S20Y	S	+	2	0	APOOL	84188151	1.000000	0.71417	0.887000	0.34795	0.241000	0.25554	2.681000	0.46926	1.022000	0.39626	0.594000	0.82650	TCT		0.358	APOOL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057385.2	NM_198450		10	25	1	0	5.50884e-06	1	6.10489e-06	10	25					A	84301495	C	A	84301495	3	1	48	1	0	0	0	0	1	0	0	0	814	913	32	2	65	2	APOOL	23	84301495	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	571100	84301495	70969065	4545	9013										
POF1B	79983	broad.mit.edu	37	chrX	84563198	84563198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtggacagcactagtcggaGtgacttatcagacatacccc	10	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:84563198G>A	ENST00000262753.4	-	10	1127	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F	POF1B_ENST00000373145.3_Missense_Mutation_p.L328F	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	328						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACTAGTCGGAGTGACTTATCA	0.338																																						ENST00000262753.4																			0				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(982-984)Ctc>Ttc		premature ovarian failure, 1B							92	79	83					X																	84563198		2203	4300	6503	SO:0001583	missense	79983						actin binding	g.chrX:84563198G>A	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.982C>T	X.37:g.84563198G>A	ENSP00000262753:p.Leu328Phe		Somatic				POF1B_ENST00000373145.3_Missense_Mutation_p.L328F	p.L328F	NM_024921.3	NP_079197.3	WXS	Illumina GAIIx	Phase_I	Q8WVV4	POF1B_HUMAN			10	1127	-			328					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.982C>T	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835319	0.71373	.	.	ENSG00000124429	ENST00000262753;ENST00000373145	T;T	0.12672	2.67;2.66	5.86	5.86	0.93980	.	0.142496	0.64402	D	0.000017	T	0.19765	0.0475	L	0.43152	1.355	0.35146	D	0.769294	D;D	0.53885	0.963;0.963	P;P	0.49922	0.626;0.626	T	0.11397	-1.0589	10	0.59425	D	0.04	-4.1786	12.8266	0.57723	0.0:0.0:0.8368:0.1632	.	328;328	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	F	328	ENSP00000262753:L328F;ENSP00000362238:L328F	ENSP00000262753:L328F	L	-	1	0	POF1B	84449854	0.979000	0.34478	0.997000	0.53966	0.969000	0.65631	1.636000	0.37144	2.471000	0.83476	0.600000	0.82982	CTC		0.338	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		11	28	0	0	0	1	0	11	28					A	84563198	G	A	84563198	3	1	48	1	0	0	0	0	1	0	0	0	12191	1029	36	3	819	3	POF1B	23	84563198	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	261703	84563198	70707362	4546	9014										
DACH2	117154	broad.mit.edu	37	chrX	85404080	85404080	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcatcaccaggaaagacttCgaaactttgttcaccgattg	7	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:85404080C>T	ENST00000373125.4	+	1	456	c.456C>T	c.(454-456)ttC>ttT	p.F152F	DACH2_ENST00000373131.1_Silent_p.F152F	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	152	DACHbox-N.				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						GGAAAGACTTCGAAACTTTGT	0.577																																						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.(454-456)ttC>ttT		dachshund homolog 2 (Drosophila)							44	44	44					X																	85404080		2203	4300	6503	SO:0001819	synonymous_variant	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85404080C>T	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.456C>T	X.37:g.85404080C>T			Somatic				DACH2_ENST00000373125.4_Silent_p.F152F	p.F152F	NM_001139514.1	NP_001132986.1	WXS	Illumina GAIIx	Phase_I	Q96NX9	DACH2_HUMAN			1	619	+			152			DACHbox-N.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Silent	SNP	ENST00000373125.4	37	c.456C>T	CCDS14455.1																																																																																				0.577	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		15	35	0	0	0	1	0	15	35					T	85404080	C	T	85404080	2	4	48	1	0	0	0	0	0	0	0	1	4223	883	31	1		1	DACH2	23	85404080	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	840882	85404080	69866480	4547	9015										
DACH2	117154	broad.mit.edu	37	chrX	85631856	85631856	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaaatgacaagaaaacaagCtgttaacaggtatttatgta	8	5	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:85631856C>A	ENST00000373125.4	+	2	518	c.518C>A	c.(517-519)gCt>gAt	p.A173D	DACH2_ENST00000508860.1_Missense_Mutation_p.A6D|DACH2_ENST00000510272.1_Intron|DACH2_ENST00000373131.1_Intron	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	173					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						agaaaacaagctgttaacagg	0.338																																						ENST00000373125.4																			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.(517-519)gCt>gAt		dachshund homolog 2 (Drosophila)							22	20	20					X																	85631856		2176	4258	6434	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85631856C>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.518C>A	X.37:g.85631856C>A	ENSP00000362217:p.Ala173Asp		Somatic				DACH2_ENST00000373131.1_Intron|DACH2_ENST00000508860.1_Missense_Mutation_p.A6D|DACH2_ENST00000510272.1_Intron	p.A173D	NM_053281.3	NP_444511.1	WXS	Illumina GAIIx	Phase_I	Q96NX9	DACH2_HUMAN			2	518	+			173					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.518C>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519319	0.27211	.	.	ENSG00000126733	ENST00000344497;ENST00000373125;ENST00000508860	D	0.83335	-1.71	3.78	3.78	0.43462	.	0.802457	0.10633	N	0.651946	T	0.80407	0.4617	N	0.08118	0	0.80722	D	1	D	0.64830	0.994	D	0.73708	0.981	T	0.73563	-0.3943	10	0.25751	T	0.34	.	10.2694	0.43475	0.0:1.0:0.0:0.0	.	173	Q96NX9	DACH2_HUMAN	D	173;173;6	ENSP00000362217:A173D	ENSP00000345134:A173D	A	+	2	0	DACH2	85518512	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.519000	0.35888	1.880000	0.54463	0.462000	0.41574	GCT		0.338	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		3	3	1	0	0.00909568	1	0.00935351	3	3					A	85631856	C	A	85631856	3	1	48	1	0	0	0	0	1	0	0	0	4223	797	28	5	524	5	DACH2	23	85631856	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	227776	85631856	69638704	4548	9016										
DACH2	117154	broad.mit.edu	37	chrX	85969606	85969606	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctacttccagtcagcttaccTcctgcatcagttgccatggc	7	15	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:85969606T>C	ENST00000373125.4	+	6	987	c.987T>C	c.(985-987)ccT>ccC	p.P329P	DACH2_ENST00000508860.1_Silent_p.P162P|DACH2_ENST00000510272.1_Silent_p.P110P|DACH2_ENST00000373131.1_Silent_p.P316P	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	329					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						TCAGCTTACCTCCTGCATCAG	0.438																																						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.(946-948)ccT>ccC		dachshund homolog 2 (Drosophila)							192	155	167					X																	85969606		2203	4300	6503	SO:0001819	synonymous_variant	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85969606T>C	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.987T>C	X.37:g.85969606T>C			Somatic				DACH2_ENST00000508860.1_Silent_p.P162P|DACH2_ENST00000373125.4_Silent_p.P329P|DACH2_ENST00000510272.1_Silent_p.P110P	p.P316P	NM_001139514.1	NP_001132986.1	WXS	Illumina GAIIx	Phase_I	Q96NX9	DACH2_HUMAN			5	1111	+			329					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Silent	SNP	ENST00000373125.4	37	c.948T>C	CCDS14455.1																																																																																				0.438	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		17	93	0	0	0	1	0	17	93					C	85969606	T	C	85969606	2	2	48	1	0	0	0	0	0	0	0	1	4223	1538	54	4		4	DACH2	23	85969606	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	337750	85969606	69300954	4549	9017										
KLHL4	56062	broad.mit.edu	37	chrX	86924355	86924355	+	3'UTR	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caagaacttctacaaaacttCtataccacacagaagctgaa	4	11	2	3	rs12013438		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:86924355C>A	ENST00000373119.4	+	0	5123				KLHL4_ENST00000373114.4_Missense_Mutation_p.F708L	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4							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						TACAAAACTTCTATACCACAC	0.438																																						ENST00000373114.4																			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.(2122-2124)ttC>ttA		kelch-like family member 4							118	94	102					X																	86924355		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86924355C>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.*2821C>A	X.37:g.86924355C>A			Somatic				KLHL4_ENST00000373119.4_3'UTR	p.F708L	NM_057162.2	NP_476503.1	WXS	Illumina GAIIx	Phase_I	Q9C0H6	KLHL4_HUMAN			11	2204	+			0					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.2124C>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	8.530	0.870762	0.17322	.	.	ENSG00000102271	ENST00000373114	T	0.73047	-0.71	1.9	-0.0988	0.13627	.	0.649006	0.13946	N	0.351835	T	0.46347	0.1388	.	.	.	0.09310	N	1	B	0.14012	0.009	B	0.25506	0.061	T	0.26018	-1.0115	9	0.13470	T	0.59	.	3.5017	0.07676	0.2875:0.432:0.2804:0.0	.	708	Q9C0H6-2	.	L	708	ENSP00000362206:F708L	ENSP00000362206:F708L	F	+	3	2	KLHL4	86811011	0.000000	0.05858	0.002000	0.10522	0.051000	0.14879	-0.107000	0.10873	-0.129000	0.11620	0.190000	0.17370	TTC		0.438	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			21	32	1	0	7.45023e-12	1	9.31775e-12	21	32					A	86924355	C	A	86924355	1	1	48	0	1	0	0	0	0	0	0	0	8400	912	32	2		2	KLHL4	23	86924355	3'UTR	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	954749	86924355	68346205	4550	9018										
CPXCR1	53336	broad.mit.edu	37	chrX	88009147	88009147	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttgtgtcacagatacaaatTgaaagtatttttaatataaa	5	3	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:88009147T>C	ENST00000276127.4	+	3	991	c.732T>C	c.(730-732)atT>atC	p.I244I	CPXCR1_ENST00000373111.1_Silent_p.I244I	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	244							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AGATACAAATTGAAAGTATTT	0.318																																						ENST00000276127.4																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						c.(730-732)atT>atC		CPX chromosome region, candidate 1							35	31	33					X																	88009147		2202	4299	6501	SO:0001819	synonymous_variant	53336					intracellular	zinc ion binding	g.chrX:88009147T>C	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.732T>C	X.37:g.88009147T>C			Somatic				CPXCR1_ENST00000373111.1_Silent_p.I244I	p.I244I	NM_033048.5	NP_149037.4	WXS	Illumina GAIIx	Phase_I	Q8N123	CPXCR_HUMAN			3	991	+			244					B2R9F9|D3DTE7|Q96RS3	Silent	SNP	ENST00000276127.4	37	c.732T>C	CCDS14458.1																																																																																				0.318	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		8	4	0	0	0	1	0	8	4					C	88009147	T	C	88009147	2	2	48	1	0	0	0	0	0	0	0	1	3838	1800	63	4		4	CPXCR1	23	88009147	Silent	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1084792	88009147	67261413	4551	9019										
PABPC5	140886	broad.mit.edu	37	chrX	90690889	90690889	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	accgcttaagaaagtctggaGtgggaaatatattcatcaaa	9	6	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:90690889G>T	ENST00000312600.3	+	2	527	c.313G>T	c.(313-315)Gtg>Ttg	p.V105L	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	105						mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AAAGTCTGGAGTGGGAAATAT	0.413																																						ENST00000312600.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(313-315)Gtg>Ttg		poly(A) binding protein, cytoplasmic 5							60	56	57					X																	90690889		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90690889G>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.313G>T	X.37:g.90690889G>T	ENSP00000308012:p.Val105Leu		Somatic				PABPC5_ENST00000373105.1_Intron	p.V105L	NM_080832.2	NP_543022.1	WXS	Illumina GAIIx	Phase_I	Q96DU9	PABP5_HUMAN			2	527	+			105					A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.313G>T	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060054	0.36373	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.05925	3.37	4.43	3.57	0.40892	Nucleotide-binding, alpha-beta plait (1);	0.116152	0.64402	D	0.000020	T	0.08268	0.0206	M	0.72624	2.21	0.51233	D	0.999916	B	0.30179	0.271	B	0.17433	0.018	T	0.07947	-1.0746	10	0.49607	T	0.09	.	9.6499	0.39890	0.1051:0.0:0.8949:0.0	.	105	Q96DU9	PABP5_HUMAN	L	105;73	ENSP00000308012:V105L	ENSP00000308012:V105L	V	+	1	0	PABPC5	90577545	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.423000	0.80229	1.220000	0.43490	0.600000	0.82982	GTG		0.413	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		7	75	1	0	0.0293803	1	0.0299069	7	75					T	90690889	G	T	90690889	3	4	48	1	0	0	0	0	1	0	0	0	11376	1029	36	5	315	5	PABPC5	23	90690889	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2681742	90690889	64579671	4552	9020										
PABPC5	140886	broad.mit.edu	37	chrX	90691338	90691338	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acacacgaggctgcccaaaaGgctgtgctagacttgcatgg	12	11	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:90691338G>T	ENST00000312600.3	+	2	976	c.762G>T	c.(760-762)aaG>aaT	p.K254N	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Missense_Mutation_p.K90N	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	254	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.K254K(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTGCCCAAAAGGCTGTGCTAG	0.463																																						ENST00000312600.3																			1	Substitution - coding silent(1)	p.K254K(1)	endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(760-762)aaG>aaT		poly(A) binding protein, cytoplasmic 5							74	73	73					X																	90691338		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691338G>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.762G>T	X.37:g.90691338G>T	ENSP00000308012:p.Lys254Asn		Somatic				PABPC5_ENST00000373105.1_Missense_Mutation_p.K90N	p.K254N	NM_080832.2	NP_543022.1	WXS	Illumina GAIIx	Phase_I	Q96DU9	PABP5_HUMAN			2	976	+			254			RRM 3.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.762G>T	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	9.919	1.211518	0.22289	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	D;D	0.90069	-2.61;-2.61	4.39	2.62	0.31277	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.051233	0.85682	D	0.000000	D	0.83589	0.5287	L	0.43598	1.365	0.47183	D	0.999349	B	0.23854	0.092	B	0.28916	0.096	T	0.77667	-0.2502	10	0.51188	T	0.08	.	8.1638	0.31215	0.2066:0.0:0.7934:0.0	.	254	Q96DU9	PABP5_HUMAN	N	90;254;222	ENSP00000362197:K90N;ENSP00000308012:K254N	ENSP00000308012:K254N	K	+	3	2	PABPC5	90577994	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	1.686000	0.37669	0.596000	0.29794	0.529000	0.55759	AAG		0.463	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		10	73	1	0	2.80697e-09	1	3.36108e-09	10	73					T	90691338	G	T	90691338	3	4	48	1	0	0	0	0	1	0	0	0	11376	991	35	5	764	5	PABPC5	23	90691338	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	449	90691338	64579222	4553	9021										
PCDH11X	27328	broad.mit.edu	37	chrX	91133602	91133602	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gattaatgaactggtgcgcaAaagcactgaagcaccagtga	11	8	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:91133602A>C	ENST00000373094.1	+	2	3208	c.2363A>C	c.(2362-2364)aAa>aCa	p.K788T	PCDH11X_ENST00000406881.1_Missense_Mutation_p.K788T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.K788T|PCDH11X_ENST00000504220.2_Missense_Mutation_p.K788T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.K788T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.K788T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.K788T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.K788T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.K788T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	788	Cadherin 7. {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						CTGGTGCGCAAAAGCACTGAA	0.463																																					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.(2362-2364)aAa>aCa		protocadherin 11 X-linked							201	162	175					X																	91133602		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133602A>C	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.2363A>C	X.37:g.91133602A>C	ENSP00000362186:p.Lys788Thr		Somatic				PCDH11X_ENST00000361655.2_Missense_Mutation_p.K788T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.K788T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.K788T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.K788T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.K788T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.K788T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.K788T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.K788T	p.K788T	NM_032968.3	NP_116750.1	WXS	Illumina GAIIx	Phase_I	Q9BZA7	PC11X_HUMAN			2	3208	+			788			Cadherin 7.		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.2363A>C	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	1.216	-0.628193	0.03610	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.15	-1.97	0.07503	Protocadherin (1);Cadherin (1);	0.230127	0.45867	D	0.000330	T	0.26412	0.0645	L	0.38531	1.155	0.09310	N	0.999996	B;B;B;B;B;B;B;B	0.25169	0.057;0.049;0.097;0.097;0.097;0.119;0.02;0.02	B;B;B;B;B;B;B;B	0.28553	0.055;0.089;0.055;0.055;0.055;0.091;0.055;0.055	T	0.28038	-1.0056	10	0.87932	D	0	.	10.9678	0.47422	0.3912:0.0:0.6088:0.0	.	788;788;788;788;788;788;788;788	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	T	788	ENSP00000378746:K788T;ENSP00000362186:K788T;ENSP00000362189:K788T;ENSP00000355040:K788T;ENSP00000362180:K788T;ENSP00000423762:K788T;ENSP00000355105:K788T;ENSP00000384758:K788T;ENSP00000298274:K788T	ENSP00000298274:K788T	K	+	2	0	PCDH11X	91020258	1.000000	0.71417	0.000000	0.03702	0.005000	0.04900	2.225000	0.42954	-0.437000	0.07243	0.481000	0.45027	AAA		0.463	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		5	167	0	0	0	1	0	5	167					C	91133602	A	C	91133602	3	2	48	1	0	0	0	0	1	0	0	0	11517	14	1	4	2369	4	PCDH11X	23	91133602	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	442264	91133602	64136958	4554	9022										
NAP1L3	4675	broad.mit.edu	37	chrX	92927916	92927916	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atattttctttcaagatcatGaattgcttttaagaacaggg	7	5	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:92927916G>T	ENST00000373079.3	-	1	651	c.388C>A	c.(388-390)Cat>Aat	p.H130N	NAP1L3_ENST00000475430.2_Missense_Mutation_p.H123N|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	130					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCAAGATCATGAATTGCTTTT	0.408																																						ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(388-390)Cat>Aat		nucleosome assembly protein 1-like 3							44	40	41					X																	92927916		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927916G>T		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.388C>A	X.37:g.92927916G>T	ENSP00000362171:p.His130Asn		Somatic				NAP1L3_ENST00000475430.1_5'UTR	p.H130N	NM_004538.5	NP_004529.2	WXS	Illumina GAIIx	Phase_I	Q99457	NP1L3_HUMAN			1	651	-			130					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.388C>A	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758669	0.49468	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.28069	1.63	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	M	0.69248	2.105	0.29955	N	0.819876	D	0.76494	0.999	D	0.91635	0.999	T	0.39396	-0.9616	10	0.30854	T	0.27	.	6.6314	0.22859	0.1273:0.0:0.8727:0.0	.	130	Q99457	NP1L3_HUMAN	N	130;123	ENSP00000362171:H130N	ENSP00000362171:H130N	H	-	1	0	NAP1L3	92814572	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.829000	0.75314	2.225000	0.72522	0.529000	0.55759	CAT		0.408	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		10	21	1	0	0.000442599	1	0.00046913	10	21					T	92927916	G	T	92927916	3	4	48	1	0	0	0	0	1	0	0	0	10167	1290	45	2	1136	2	NAP1L3	23	92927916	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1794314	92927916	62342644	4555	9023										
DIAPH2	1730	broad.mit.edu	37	chrX	96192338	96192338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaccgtctcaatgacattcGagcagaaatggaatatcctt	7	10	1	2	rs41300144		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:96192338G>A	ENST00000324765.8	+	11	1543	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	DIAPH2_ENST00000373049.4_Missense_Mutation_p.R399Q|DIAPH2_ENST00000373061.3_Missense_Mutation_p.R399Q|DIAPH2_ENST00000355827.4_Missense_Mutation_p.R399Q|DIAPH2_ENST00000373054.4_Missense_Mutation_p.R395Q			O60879	DIAP2_HUMAN	diaphanous-related formin 2	399	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.R399Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AATGACATTCGAGCAGAAATG	0.338													G|||	1	0.000264901	0	0	3775	,	,		13913	0		0.001	False		,,,				2504	0					ENST00000324765.8																			1	Substitution - Missense(1)	p.R399Q(1)	large_intestine(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(1195-1197)cGa>cAa		diaphanous-related formin 2		G	GLN/ARG,GLN/ARG	0,3835		0,0,1632,571	70	57	62		1196,1196	4.5	1	X	dbSNP_127	62	1,6727		0,1,2427,1872	no	missense,missense	DIAPH2	NM_006729.4,NM_007309.3	43,43	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging	399/1102,399/1097	96192338	1,10562	2203	4300	6503	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96192338G>A	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1196G>A	X.37:g.96192338G>A	ENSP00000321348:p.Arg399Gln		Somatic				DIAPH2_ENST00000355827.4_Missense_Mutation_p.R399Q|DIAPH2_ENST00000373049.4_Missense_Mutation_p.R399Q|DIAPH2_ENST00000373054.4_Missense_Mutation_p.R395Q|DIAPH2_ENST00000373061.3_Missense_Mutation_p.R399Q	p.R399Q			WXS	Illumina GAIIx	Phase_I	O60879	DIAP2_HUMAN			11	1543	+			399			GBD/FH3.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.1196G>A	CCDS14467.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.18	2.756264	0.49362	0.0	1.49E-4	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	4.48	4.48	0.54585	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000017	D	0.86636	0.5980	L	0.48174	1.505	0.39104	D	0.961347	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.75484	0.986;0.876;0.924	D	0.88000	0.2755	10	0.72032	D	0.01	.	10.172	0.42915	0.1601:0.0:0.8399:0.0	rs41300144	399;399;406	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	Q	399;395;399;399;399;406	ENSP00000362152:R399Q;ENSP00000362145:R395Q;ENSP00000348082:R399Q;ENSP00000362140:R399Q;ENSP00000321348:R399Q	ENSP00000321348:R399Q	R	+	2	0	DIAPH2	96078994	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.051000	0.64257	1.957000	0.56846	0.284000	0.19432	CGA		0.338	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		9	28	0	0	0	1	0	9	28					A	96192338	G	A	96192338	3	1	48	1	0	0	0	0	1	0	0	0	4521	1058	37	1	1238	1	DIAPH2	23	96192338	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3264422	96192338	59078222	4556	9024										
PCDH19	57526	broad.mit.edu	37	chrX	99657837	99657837	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcttttgatgcccataggaGtactcagcaattctatgtga	8	8	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:99657837G>T	ENST00000373034.4	-	3	3976	c.2301C>A	c.(2299-2301)taC>taA	p.Y767*	PCDH19_ENST00000420881.2_Nonsense_Mutation_p.Y720*|PCDH19_ENST00000255531.7_Nonsense_Mutation_p.Y720*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	767					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						GCCCATAGGAGTACTCAGCAA	0.438																																						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.(2299-2301)taC>taA		protocadherin 19							115	95	101					X																	99657837		1895	4119	6014	SO:0001587	stop_gained	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99657837G>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.2301C>A	X.37:g.99657837G>T	ENSP00000362125:p.Tyr767*		Somatic				PCDH19_ENST00000420881.2_Nonsense_Mutation_p.Y720*|PCDH19_ENST00000255531.7_Nonsense_Mutation_p.Y720*	p.Y767*	NM_001184880.1	NP_001171809.1	WXS	Illumina GAIIx	Phase_I	Q8TAB3	PCD19_HUMAN			3	3976	-			767					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Nonsense_Mutation	SNP	ENST00000373034.4	37	c.2301C>A	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	g	40	8.075564	0.98640	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4736	0.55801	0.0781:0.0:0.9219:0.0	.	.	.	.	X	720;767;720	.	ENSP00000255531:Y720X	Y	-	3	2	PCDH19	99544493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.394000	0.59671	2.458000	0.83093	0.519000	0.50382	TAC		0.438	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		13	18	1	0	9.31168e-06	1	1.03131e-05	13	18					T	99657837	G	T	99657837	4	4	48	1	0	0	0	0	0	1	0	0	11523	1024	36	5	1161	5	PCDH19	23	99657837	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3465499	99657837	55612723	4557	9025										
PCDH19	57526	broad.mit.edu	37	chrX	99662932	99662932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caccttgatactaaggccaaCggtgcccaggcgcggcgggt	14	13	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:99662932C>T	ENST00000373034.4	-	1	2339	c.664G>A	c.(664-666)Gtt>Att	p.V222I	PCDH19_ENST00000420881.2_Missense_Mutation_p.V222I|PCDH19_ENST00000255531.7_Missense_Mutation_p.V222I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	222	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						CTAAGGCCAACGGTGCCCAGG	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.(664-666)Gtt>Att		protocadherin 19							86	90	89					X																	99662932		2170	4247	6417	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662932C>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.664G>A	X.37:g.99662932C>T	ENSP00000362125:p.Val222Ile		Somatic				PCDH19_ENST00000420881.2_Missense_Mutation_p.V222I|PCDH19_ENST00000255531.7_Missense_Mutation_p.V222I	p.V222I	NM_001184880.1	NP_001171809.1	WXS	Illumina GAIIx	Phase_I	Q8TAB3	PCD19_HUMAN			1	2339	-			222			Cadherin 2.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.664G>A	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002653	0.35320	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.52983	0.64;0.64;0.64	5.98	5.98	0.97165	Cadherin (4);Cadherin-like (1);	0.054971	0.64402	D	0.000001	T	0.55465	0.1922	L	0.47078	1.49	0.58432	D	0.999995	D;B;B	0.55800	0.973;0.377;0.43	P;B;B	0.51101	0.659;0.056;0.094	T	0.55134	-0.8188	10	0.54805	T	0.06	.	19.3431	0.94352	0.0:1.0:0.0:0.0	.	222;222;222	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	I	222	ENSP00000400327:V222I;ENSP00000362125:V222I;ENSP00000255531:V222I	ENSP00000255531:V222I	V	-	1	0	PCDH19	99549588	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	4.981000	0.63819	2.521000	0.84997	0.544000	0.68410	GTT		0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		56	99	0	0	0	1	0	56	99					T	99662932	C	T	99662932	3	4	48	1	0	0	0	0	1	0	0	0	11523	536	19	1	2806	1	PCDH19	23	99662932	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	5095	99662932	55607628	4558	9026										
TNMD	64102	broad.mit.edu	37	chrX	99852524	99852524	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagaaattaccacaactttCtttgaacagtcagtgatttg	7	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:99852524C>A	ENST00000373031.4	+	5	664	c.447C>A	c.(445-447)ttC>ttA	p.F149L	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	149	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						CCACAACTTTCTTTGAACAGT	0.378																																						ENST00000373031.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						c.(445-447)ttC>ttA		tenomodulin							72	67	69					X																	99852524		2203	4300	6503	SO:0001583	missense	64102					integral to membrane		g.chrX:99852524C>A	AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"BRICHOS domain containing"	17757	protein-coding gene	gene with protein product	"BRICHOS domain containing 4"	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.447C>A	X.37:g.99852524C>A	ENSP00000362122:p.Phe149Leu		Somatic				TNMD_ENST00000485971.1_3'UTR	p.F149L	NM_022144.2	NP_071427.2	WXS	Illumina GAIIx	Phase_I	Q9H2S6	TNMD_HUMAN			5	664	+			149			BRICHOS.		Q9HBX0|Q9UJG0	Missense_Mutation	SNP	ENST00000373031.4	37	c.447C>A	CCDS14469.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.730685	0.30684	.	.	ENSG00000000005	ENST00000373031	T	0.77098	-1.07	5.84	3.14	0.36123	BRICHOS (2);	0.364548	0.30930	N	0.008586	T	0.66076	0.2753	L	0.32530	0.975	0.30870	N	0.732587	B	0.14805	0.011	B	0.12837	0.008	T	0.58233	-0.7672	10	0.35671	T	0.21	-22.8038	10.8193	0.46595	0.0:0.6579:0.0:0.3421	.	149	Q9H2S6	TNMD_HUMAN	L	149	ENSP00000362122:F149L	ENSP00000362122:F149L	F	+	3	2	TNMD	99739180	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	1.402000	0.34600	0.004000	0.14682	-1.225000	0.01585	TTC		0.378	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057481.1	NM_022144		20	33	1	0	5.03518e-11	1	6.23768e-11	20	33					A	99852524	C	A	99852524	3	1	48	1	0	0	0	0	1	0	0	0	16337	912	32	2	465	2	TNMD	23	99852524	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	189592	99852524	55418036	4559	9027										
SRPX2	27286	broad.mit.edu	37	chrX	99922392	99922392	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgatattataaaatgcagatCtctatgctacaggtaaggcc	8	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:99922392C>A	ENST00000373004.3	+	9	1511	c.1083C>A	c.(1081-1083)atC>atA	p.I361I		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	361					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						AAATGCAGATCTCTATGCTAC	0.448																																						ENST00000373004.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(1081-1083)atC>atA		sushi-repeat containing protein, X-linked 2							123	104	110					X																	99922392		2203	4300	6503	SO:0001819	synonymous_variant	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99922392C>A	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"sushi-repeat-containing protein, X-linked 2"			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.1083C>A	X.37:g.99922392C>A			Somatic					p.I361I	NM_014467.2	NP_055282.1	WXS	Illumina GAIIx	Phase_I	O60687	SRPX2_HUMAN			9	1511	+			361					B3KQT3|Q8WW85	Silent	SNP	ENST00000373004.3	37	c.1083C>A	CCDS14471.1																																																																																				0.448	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		27	45	1	0	1.7881e-09	1	2.15438e-09	27	45					A	99922392	C	A	99922392	2	1	48	1	0	0	0	0	0	0	0	1	15180	903	32	2		2	SRPX2	23	99922392	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	69868	99922392	55348168	4560	9028										
CSTF2	1478	broad.mit.edu	37	chrX	100088308	100088308	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgtgcaatggaggcccgagcGatggaggcccgtgcaatgga	17	10	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100088308G>A	ENST00000372972.2	+	11	1363	c.1347G>A	c.(1345-1347)gcG>gcA	p.A449A	CSTF2_ENST00000415585.2_Silent_p.A469A	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	449	12 X 5 AA tandem repeats of M-E-A-R-[AG].				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)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AGGCCCGAGCGATGGAGGCCC	0.622																																						ENST00000415585.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						c.(1405-1407)gcG>gcA		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa							48	40	43					X																	100088308		2203	4300	6503	SO:0001819	synonymous_variant	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding	g.chrX:100088308G>A	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"RNA binding motif (RRM) containing"	2484	protein-coding gene	gene with protein product		300907	"cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.1347G>A	X.37:g.100088308G>A			Somatic				CSTF2_ENST00000372972.2_Silent_p.A449A|CSTF2_ENST00000486615.1_Intron	p.A469A			WXS	Illumina GAIIx	Phase_I	P33240	CSTF2_HUMAN			12	1429	+			449			12 X 5 AA tandem repeats of M-E-A-R-[AG].		Q5H951|Q6LA74|Q8N502	Silent	SNP	ENST00000372972.2	37	c.1407G>A	CCDS14473.1																																																																																				0.622	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		9	15	0	0	0	1	0	9	15					A	100088308	G	A	100088308	2	1	48	1	0	0	0	0	0	0	0	1	3986	1045	37	1		1	CSTF2	23	100088308	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	165916	100088308	55182252	4561	9029										
NOX1	27035	broad.mit.edu	37	chrX	100099015	100099015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atatcggtgacagcatttgcGcaggctctttgccaaagtcc	10	11	1	1	rs370641862		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100099015G>A	ENST00000372966.3	-	13	1826	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C	NOX1_ENST00000372960.4_Missense_Mutation_p.R504C|NOX1_ENST00000217885.5_Missense_Mutation_p.R492C|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	541					angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CAGCATTTGCGCAGGCTCTTT	0.423																																						ENST00000372966.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(1621-1623)Cgc>Tgc		NADPH oxidase 1							73	60	64					X																	100099015		2203	4299	6502	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100099015G>A	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)", "NADPH oxidase homolog-1", "NADPH oxidase 1 variant NOH-1L"	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1621C>T	X.37:g.100099015G>A	ENSP00000362057:p.Arg541Cys		Somatic				NOX1_ENST00000372960.4_Missense_Mutation_p.R504C|NOX1_ENST00000217885.5_Missense_Mutation_p.R492C|NOX1_ENST00000372964.1_Intron	p.R541C	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	WXS	Illumina GAIIx	Phase_I	Q9Y5S8	NOX1_HUMAN			13	1826	-			541					A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.1621C>T	CCDS14474.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.17|16.17	3.046610|3.046610	0.55110|0.55110	.|.	.|.	ENSG00000007952|ENSG00000007952	ENST00000427768|ENST00000372966;ENST00000217885;ENST00000372960;ENST00000372957	.|D;D;D	.|0.95690	.|-3.78;-3.78;-3.78	5.09|5.09	-3.78|-3.78	0.04333|0.04333	.|Ferric reductase, NAD binding (1);	.|1.135820	.|0.06382	.|N	.|0.715458	D|D	0.95124|0.95124	0.8420|0.8420	M|M	0.72479|0.72479	2.2|2.2	0.09310|0.09310	N|N	1|1	.|B;D;D	.|0.61080	.|0.009;0.972;0.989	.|B;P;P	.|0.52386	.|0.003;0.571;0.697	D|D	0.89406|0.89406	0.3699|0.3699	5|10	.|0.72032	.|D	.|0.01	-0.0196|-0.0196	6.3986|6.3986	0.21626|0.21626	0.2044:0.0:0.2841:0.5115|0.2044:0.0:0.2841:0.5115	.|.	.|504;492;541	.|A6NGA6;Q9Y5S8-3;Q9Y5S8	.|.;.;NOX1_HUMAN	V|C	151|541;492;504;156	.|ENSP00000362057:R541C;ENSP00000217885:R492C;ENSP00000362051:R504C	.|ENSP00000217885:R492C	A|R	-|-	2|1	0|0	NOX1|NOX1	99985671|99985671	0.000000|0.000000	0.05858|0.05858	0.049000|0.049000	0.19019|0.19019	0.949000|0.949000	0.60115|0.60115	-0.065000|-0.065000	0.11617|0.11617	-0.911000|-0.911000	0.03843|0.03843	0.597000|0.597000	0.82753|0.82753	GCG|CGC		0.423	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		9	16	0	0	0	1	0	9	16					A	100099015	G	A	100099015	3	1	48	1	0	0	0	0	1	0	0	0	10565	1087	38	1	77	1	NOX1	23	100099015	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	10707	100099015	55171545	4562	9030										
CENPI	2491	broad.mit.edu	37	chrX	100387279	100387279	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagcttgtgagctggattcCttttagtagcttctctggta	10	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100387279C>A	ENST00000372927.1	+	13	1665	c.1388C>A	c.(1387-1389)cCt>cAt	p.P463H	CENPI_ENST00000423383.1_Missense_Mutation_p.P463H|CENPI_ENST00000218507.5_Missense_Mutation_p.P463H|CENPI_ENST00000372926.1_Missense_Mutation_p.P463H	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	463					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGCTGGATTCCTTTTAGTAGC	0.388																																						ENST00000372927.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(1387-1389)cCt>cAt		centromere protein I							176	169	171					X																	100387279		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100387279C>A	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1388C>A	X.37:g.100387279C>A	ENSP00000362018:p.Pro463His		Somatic				CENPI_ENST00000218507.5_Missense_Mutation_p.P463H|CENPI_ENST00000423383.1_Missense_Mutation_p.P463H|CENPI_ENST00000372926.1_Missense_Mutation_p.P463H	p.P463H	NM_006733.2	NP_006724.2	WXS	Illumina GAIIx	Phase_I	Q92674	CENPI_HUMAN			13	1665	+			463					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.1388C>A	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	c	22.3	4.277522	0.80580	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.80154	0.4571	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82161	-0.0594	9	0.72032	D	0.01	-13.71	18.611	0.91285	0.0:1.0:0.0:0.0	.	463;463	B4DZL4;Q92674	.;CENPI_HUMAN	H	463	.	ENSP00000218507:P463H	P	+	2	0	CENPI	100273935	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	6.450000	0.73477	2.339000	0.79563	0.506000	0.49869	CCT		0.388	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		49	88	1	0	1.67753e-36	1	2.4137e-36	49	88					A	100387279	C	A	100387279	3	1	48	1	0	0	0	0	1	0	0	0	3235	681	24	5	1434	5	CENPI	23	100387279	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	288264	100387279	54883281	4563	9031										
DRP2	1821	broad.mit.edu	37	chrX	100500053	100500053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caatttcacccaataaagttCcctactacatcaagtgagtg	5	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100500053C>T	ENST00000395209.3	+	10	1629	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	DRP2_ENST00000538510.1_Missense_Mutation_p.P368S|DRP2_ENST00000402866.1_Missense_Mutation_p.P368S|DRP2_ENST00000541709.1_Missense_Mutation_p.P290S	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	368	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAATAAAGTTCCCTACTACAT	0.493																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(1102-1104)Ccc>Tcc		dystrophin related protein 2							175	168	170					X																	100500053		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100500053C>T	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.1102C>T	X.37:g.100500053C>T	ENSP00000378635:p.Pro368Ser		Somatic				DRP2_ENST00000541709.1_Missense_Mutation_p.P290S|DRP2_ENST00000538510.1_Missense_Mutation_p.P368S|DRP2_ENST00000402866.1_Missense_Mutation_p.P368S	p.P368S	NM_001939.2	NP_001930.2	WXS	Illumina GAIIx	Phase_I	Q13474	DRP2_HUMAN			10	1629	+			368			WW.		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.1102C>T	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662925	0.88251	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.51	5.51	0.81932	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.91928	0.7444	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93016	0.6436	10	0.87932	D	0	-12.5681	18.0365	0.89305	0.0:1.0:0.0:0.0	.	368	Q13474	DRP2_HUMAN	S	368;368;290;368	ENSP00000385038:P368S;ENSP00000378635:P368S;ENSP00000444752:P290S;ENSP00000441051:P368S	ENSP00000378635:P368S	P	+	1	0	DRP2	100386709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.300000	0.77407	0.544000	0.68410	CCC		0.493	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		83	168	0	0	0	1	0	83	168					T	100500053	C	T	100500053	3	4	48	1	0	0	0	0	1	0	0	0	4766	855	30	3	1132	3	DRP2	23	100500053	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	112774	100500053	54770507	4564	9032										
TAF7L	54457	broad.mit.edu	37	chrX	100530220	100530220	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacttcttaccttctcatttTtttgtttttcctgtaactca	2	10	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100530220T>A	ENST00000372907.3	-	12	1345	c.1334A>T	c.(1333-1335)aAa>aTa	p.K445I	TAF7L_ENST00000356784.1_Missense_Mutation_p.K359I|TAF7L_ENST00000324762.6_Missense_Mutation_p.K285I|TAF7L_ENST00000372905.2_Missense_Mutation_p.K285I	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	445					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CTTCTCATTTTTTTGTTTTTC	0.333																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1333-1335)aAa>aTa		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa							203	187	192					X																	100530220		2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100530220T>A	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1334A>T	X.37:g.100530220T>A	ENSP00000361998:p.Lys445Ile		Somatic				TAF7L_ENST00000356784.1_Missense_Mutation_p.K359I|TAF7L_ENST00000324762.6_Missense_Mutation_p.K285I|TAF7L_ENST00000372905.2_Missense_Mutation_p.K285I	p.K445I	NM_024885.3	NP_079161.3	WXS	Illumina GAIIx	Phase_I	Q5H9L4	TAF7L_HUMAN			12	1345	-			445					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.1334A>T	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	T	8.770	0.925591	0.18056	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.25912	3.59;1.77;1.77;3.59	5.12	-0.878	0.10617	.	0.550022	0.16375	N	0.217180	T	0.37404	0.1002	L	0.61218	1.895	0.19775	N	0.999955	D;D	0.67145	0.996;0.98	P;P	0.59171	0.853;0.837	T	0.25012	-1.0144	10	0.87932	D	0	-7.6608	8.7808	0.34789	0.0:0.3537:0.0:0.6463	.	445;285	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	I	445;285;285;359	ENSP00000361998:K445I;ENSP00000361996:K285I;ENSP00000320283:K285I;ENSP00000349235:K359I	ENSP00000320283:K285I	K	-	2	0	TAF7L	100416876	0.996000	0.38824	0.000000	0.03702	0.035000	0.12851	1.054000	0.30455	-0.604000	0.05760	0.150000	0.16122	AAA		0.333	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			74	112	0	0	0	1	0	74	112					A	100530220	T	A	100530220	3	1	48	1	0	0	0	0	1	0	0	0	15548	1841	64	4	62	4	TAF7L	23	100530220	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	30167	100530220	54740340	4565	9033										
TAF7L	54457	broad.mit.edu	37	chrX	100532613	100532613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgacgaggtatgaccctgCttgtggctgctcattcccga	11	13	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100532613C>T	ENST00000372907.3	-	9	941	c.930G>A	c.(928-930)aaG>aaA	p.K310K	TAF7L_ENST00000356784.1_Silent_p.K224K|TAF7L_ENST00000324762.6_Silent_p.K224K|TAF7L_ENST00000372905.2_Silent_p.K224K	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	310					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TATGACCCTGCTTGTGGCTGC	0.438																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(928-930)aaG>aaA		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa							189	184	186					X																	100532613		2203	4300	6503	SO:0001819	synonymous_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100532613C>T	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.930G>A	X.37:g.100532613C>T			Somatic				TAF7L_ENST00000356784.1_Silent_p.K224K|TAF7L_ENST00000324762.6_Silent_p.K224K|TAF7L_ENST00000372905.2_Silent_p.K224K	p.K310K	NM_024885.3	NP_079161.3	WXS	Illumina GAIIx	Phase_I	Q5H9L4	TAF7L_HUMAN			9	941	-			310					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Silent	SNP	ENST00000372907.3	37	c.930G>A	CCDS35347.1																																																																																				0.438	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			60	140	0	0	0	1	0	60	140					T	100532613	C	T	100532613	2	4	48	1	0	0	0	0	0	0	0	1	15548	796	28	3		3	TAF7L	23	100532613	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2393	100532613	54737947	4566	9034										
GLA	2717	broad.mit.edu	37	chrX	100653892	100653892	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcatcaatgtcagcaaaatTtcgccagtgattgcagtact	7	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100653892T>G	ENST00000218516.3	-	5	703	c.682A>C	c.(682-684)Aat>Cat	p.N228H	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000479445.1_5'Flank	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	228					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TCAGCAAAATTTCGCCAGTGA	0.398																																					Colon(193;776 2816 31189 44474)	ENST00000218516.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(682-684)Aat>Cat		galactosidase, alpha	Agalsidase beta(DB00103)						165	159	161					X																	100653892		2203	4300	6503	SO:0001583	missense	2717				glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	g.chrX:100653892T>G	X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.682A>C	X.37:g.100653892T>G	ENSP00000218516:p.Asn228His		Somatic				GLA_ENST00000493905.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	p.N228H	NM_000169.2	NP_000160.1	WXS	Illumina GAIIx	Phase_I	P06280	AGAL_HUMAN			5	703	-			228					Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	c.682A>C	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181203	0.78677	.	.	ENSG00000102393	ENST00000218516	D	0.99885	-7.5	5.67	5.67	0.87782	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.040458	0.85682	D	0.000000	D	0.99883	0.9944	.	.	.	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.96052	0.9032	9	0.87932	D	0	-19.4618	15.105	0.72315	0.0:0.0:0.0:1.0	.	228	P06280	AGAL_HUMAN	H	228	ENSP00000218516:N228H	ENSP00000218516:N228H	N	-	1	0	GLA	100540548	1.000000	0.71417	0.999000	0.59377	0.662000	0.39071	7.997000	0.88414	2.018000	0.59344	0.486000	0.48141	AAT		0.398	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1			55	74	0	0	0	1	0	55	74					G	100653892	T	G	100653892	3	3	48	1	0	0	0	0	1	0	0	0	6434	1841	64	4	619	4	GLA	23	100653892	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	121279	100653892	54616668	4567	9035										
ZMAT1	84460	broad.mit.edu	37	chrX	101139144	101139144	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgtgtttctacagagctatCtcctatctttctgaaacaag	7	9	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101139144C>A	ENST00000372782.3	-	7	1302	c.1255G>T	c.(1255-1257)Gat>Tat	p.D419Y	ZMAT1_ENST00000540921.1_Missense_Mutation_p.D419Y|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.D248Y	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	419						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						ACAGAGCTATCTCCTATCTTT	0.403																																						ENST00000372782.3																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(1255-1257)Gat>Tat		zinc finger, matrin-type 1							252	235	241					X																	101139144		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101139144C>A	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1255G>T	X.37:g.101139144C>A	ENSP00000361868:p.Asp419Tyr		Somatic				ZMAT1_ENST00000458570.1_Missense_Mutation_p.D248Y|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.D419Y	p.D419Y	NM_001011657.3	NP_001011657.2	WXS	Illumina GAIIx	Phase_I	A7MD47	A7MD47_HUMAN			7	1302	-			248					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.1255G>T	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	C	7.956	0.745868	0.15710	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.27256	2.32;2.32;1.68	4.59	-2.67	0.06059	.	1.057890	0.07349	N	0.882099	T	0.34019	0.0883	M	0.65498	2.005	0.09310	N	1	D	0.62365	0.991	P	0.55161	0.77	T	0.26258	-1.0108	10	0.72032	D	0.01	0.4489	2.1428	0.03779	0.1239:0.3509:0.1199:0.4053	.	419	Q5H9K5	ZMAT1_HUMAN	Y	419;419;248	ENSP00000361868:D419Y;ENSP00000437529:D419Y;ENSP00000413044:D248Y	ENSP00000361868:D419Y	D	-	1	0	ZMAT1	101025800	0.428000	0.25522	0.000000	0.03702	0.010000	0.07245	0.959000	0.29240	-0.857000	0.04115	-1.021000	0.02439	GAT		0.403	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			17	210	1	0	2.48551e-13	1	3.17925e-13	17	210					A	101139144	C	A	101139144	3	1	48	1	0	0	0	0	1	0	0	0	17706	913	32	2	665	2	ZMAT1	23	101139144	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	485252	101139144	54131416	4568	9036										
ZMAT1	84460	broad.mit.edu	37	chrX	101139766	101139766	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttgtgtcttccttgaattCttcactagattgataacaat	5	8	4	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101139766C>A	ENST00000372782.3	-	7	680	c.633G>T	c.(631-633)aaG>aaT	p.K211N	ZMAT1_ENST00000540921.1_Missense_Mutation_p.K211N|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.K40N	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	211						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCCTTGAATTCTTCACTAGAT	0.313																																						ENST00000372782.3																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(631-633)aaG>aaT		zinc finger, matrin-type 1							138	126	130					X																	101139766		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101139766C>A	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.633G>T	X.37:g.101139766C>A	ENSP00000361868:p.Lys211Asn		Somatic				ZMAT1_ENST00000458570.1_Missense_Mutation_p.K40N|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.K211N	p.K211N	NM_001011657.3	NP_001011657.2	WXS	Illumina GAIIx	Phase_I	A7MD47	A7MD47_HUMAN			7	680	-			40					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.633G>T	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760511	0.49468	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.29917	2.11;2.11;1.55	4.35	2.51	0.30379	.	1.477610	0.04217	N	0.332917	T	0.52725	0.1752	M	0.73962	2.25	0.26746	N	0.970307	D	0.76494	0.999	D	0.65233	0.933	T	0.07233	-1.0783	10	0.56958	D	0.05	-6.739	5.5131	0.16892	0.0:0.6173:0.0:0.3827	.	211	Q5H9K5	ZMAT1_HUMAN	N	211;211;40	ENSP00000361868:K211N;ENSP00000437529:K211N;ENSP00000413044:K40N	ENSP00000361868:K211N	K	-	3	2	ZMAT1	101026422	0.997000	0.39634	0.990000	0.47175	0.951000	0.60555	0.331000	0.19733	0.520000	0.28426	0.526000	0.51066	AAG		0.313	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			45	93	1	0	9.39024e-22	1	1.29924e-21	45	93					A	101139766	C	A	101139766	3	1	48	1	0	0	0	0	1	0	0	0	17706	912	32	2	1287	2	ZMAT1	23	101139766	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	622	101139766	54130794	4569	9037										
NXF2	728343	broad.mit.edu	37	chrX	101623766	101623766	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcacagagtagggcgcagtaGaatgattgacaaatatacat	10	6	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101623766G>T	ENST00000372750.1	-	12	1395	c.596C>A	c.(595-597)tCt>tAt	p.S199Y	NXF2B_ENST00000457521.2_Missense_Mutation_p.S199Y|NXF2B_ENST00000372752.1_Missense_Mutation_p.S111Y|NXF2B_ENST00000372749.1_Missense_Mutation_p.S199Y|NXF2B_ENST00000412230.2_Missense_Mutation_p.S199Y			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	199	RRM.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(1)|lung(4)|ovary(1)	7						GGGCGCAGTAGAATGATTGAC	0.488																																						ENST00000457521.2																			0				breast(1)|kidney(1)|lung(4)|ovary(1)	7						c.(595-597)tCt>tAt		nuclear RNA export factor 2B							144	123	130					X																	101623766		2202	4281	6483	SO:0001583	missense	728343							g.chrX:101623766G>T		CCDS43979.1	Xq22.1	2013-05-14			ENSG00000185945	ENSG00000269437			23984	protein-coding gene	gene with protein product						16382448	Standard	NM_001099686		Approved	bA353J17.1		Q9GZY0	OTTHUMG00000154920	ENST00000372750.1:c.596C>A	X.37:g.101623766G>T	ENSP00000361836:p.Ser199Tyr		Somatic				NXF2B_ENST00000372749.1_Missense_Mutation_p.S199Y|NXF2B_ENST00000372750.1_Missense_Mutation_p.S199Y|NXF2B_ENST00000372752.1_Missense_Mutation_p.S111Y|NXF2B_ENST00000412230.2_Missense_Mutation_p.S199Y	p.S199Y			WXS	Illumina GAIIx	Phase_I					19	2467	-								Q9BXU4|Q9NSS1|Q9NX66	Missense_Mutation	SNP	ENST00000372750.1	37	c.596C>A	CCDS43979.1	.	.	.	.	.	.	.	.	.	.	.	11.98	1.801326	0.31869	.	.	ENSG00000185945	ENST00000372752;ENST00000457521;ENST00000372749;ENST00000372750;ENST00000412230	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	3.42	2.53	0.30540	.	0.208393	0.38897	N	0.001522	T	0.40423	0.1116	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20009	-1.0288	7	0.25106	T	0.35	.	7.6533	0.28360	0.0:0.2571:0.7429:0.0	.	.	.	.	Y	111;199;199;199;199	ENSP00000361838:S111Y;ENSP00000396447:S199Y;ENSP00000361835:S199Y;ENSP00000361836:S199Y;ENSP00000413087:S199Y	ENSP00000361835:S199Y	S	-	2	0	NXF2B	101510422	0.064000	0.20934	0.005000	0.12908	0.018000	0.09664	1.164000	0.31810	0.790000	0.33803	0.377000	0.23210	TCT		0.488	NXF2B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058979.1			12	62	1	0	1.06801e-11	1	1.33247e-11	12	62					T	101623766	G	T	101623766	3	4	48	1	0	0	0	0	1	0	0	0	10792	942	33	2	3313	2	NXF2	23	101623766	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	484000	101623766	53646794	4570	9038										
ARMCX5	64860	broad.mit.edu	37	chrX	101858222	101858222	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acagctctgagtcttccgaaGaaccaaaatcaggggagtca	10	10	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101858222G>T	ENST00000604957.1	+	1	3775	c.1153G>T	c.(1153-1155)Gaa>Taa	p.E385*	RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000541409.1_Nonsense_Mutation_p.E385*|ARMCX5_ENST00000536530.1_Nonsense_Mutation_p.E385*|ARMCX5_ENST00000537008.1_Nonsense_Mutation_p.E385*|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Nonsense_Mutation_p.E385*|ARMCX5_ENST00000372742.1_Nonsense_Mutation_p.E385*	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	385										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GTCTTCCGAAGAACCAAAATC	0.418																																						ENST00000604957.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1153-1155)Gaa>Taa		armadillo repeat containing, X-linked 5							63	63	63					X																	101858222		2203	4300	6503	SO:0001587	stop_gained	64860						binding	g.chrX:101858222G>T		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"Armadillo repeat containing"	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1153G>T	X.37:g.101858222G>T	ENSP00000474720:p.Glu385*		Somatic				RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000372742.1_Nonsense_Mutation_p.E385*|ARMCX5_ENST00000246174.2_Nonsense_Mutation_p.E385*|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_Nonsense_Mutation_p.E385*|ARMCX5_ENST00000541409.1_Nonsense_Mutation_p.E385*|ARMCX5_ENST00000536530.1_Nonsense_Mutation_p.E385*	p.E385*	NM_001168478.1	NP_001161950.1	WXS	Illumina GAIIx	Phase_I	Q6P1M9	ARMX5_HUMAN			1	3775	+			385					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Nonsense_Mutation	SNP	ENST00000604957.1	37	c.1153G>T	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	G	37	5.982069	0.97168	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	.	.	.	3.9	3.03	0.35002	.	0.183297	0.26812	N	0.022361	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-3.6863	6.4509	0.21903	0.1335:0.0:0.8665:0.0	.	.	.	.	X	385	.	ENSP00000246174:E385X	E	+	1	0	ARMCX5	101744878	0.488000	0.25996	0.011000	0.14972	0.039000	0.13416	1.532000	0.36029	1.015000	0.39444	0.600000	0.82982	GAA		0.418	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		5	86	1	0	0.000602214	1	0.000636035	5	86					T	101858222	G	T	101858222	4	4	48	1	0	0	0	0	0	1	0	0	962	943	33	2	1155	2	ARMCX5	23	101858222	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	234456	101858222	53412338	4571	9039										
GPRASP1	9737	broad.mit.edu	37	chrX	101911592	101911592	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttctgggatggaaaagaagtCagtgaagaagcaggaccatg	14	5	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101911592C>A	ENST00000361600.5	+	5	3552	c.2751C>A	c.(2749-2751)gtC>gtA	p.V917V	GPRASP1_ENST00000415986.1_Silent_p.V917V|GPRASP1_ENST00000537097.1_Silent_p.V917V|GPRASP1_ENST00000444152.1_Silent_p.V917V|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	917	Glu-rich.|OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAAAAGAAGTCAGTGAAGAAG	0.463																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2749-2751)gtC>gtA		G protein-coupled receptor associated sorting protein 1							99	97	98					X																	101911592		2203	4300	6503	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101911592C>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2751C>A	X.37:g.101911592C>A			Somatic				GPRASP1_ENST00000444152.1_Silent_p.V917V|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Silent_p.V917V|GPRASP1_ENST00000415986.1_Silent_p.V917V	p.V917V	NM_001184727.1	NP_001171656.1	WXS	Illumina GAIIx	Phase_I	Q5JY77	GASP1_HUMAN			6	3564	+			917			Glu-rich.|OPRD1-binding.		O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.2751C>A	CCDS35352.1																																																																																				0.463	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		33	92	1	0	2.61193e-14	1	3.39424e-14	33	92					A	101911592	C	A	101911592	2	1	48	1	0	0	0	0	0	0	0	1	6731	813	29	2		2	GPRASP1	23	101911592	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	53370	101911592	53358968	4572	9040										
GPRASP1	9737	broad.mit.edu	37	chrX	101912218	101912218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caggtcagtccaggaaattcGagagcatcttagggccaagg	13	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101912218G>A	ENST00000361600.5	+	5	4178	c.3377G>A	c.(3376-3378)cGa>cAa	p.R1126Q	GPRASP1_ENST00000415986.1_Missense_Mutation_p.R1126Q|GPRASP1_ENST00000537097.1_Missense_Mutation_p.R1126Q|GPRASP1_ENST00000444152.1_Missense_Mutation_p.R1126Q|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1126	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAGGAAATTCGAGAGCATCTT	0.463													G|||	1	0.000264901	0	0	3775	,	,		13336	0		0	False		,,,				2504	0.001					ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3376-3378)cGa>cAa		G protein-coupled receptor associated sorting protein 1							121	108	112					X																	101912218		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101912218G>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3377G>A	X.37:g.101912218G>A	ENSP00000355146:p.Arg1126Gln		Somatic				GPRASP1_ENST00000444152.1_Missense_Mutation_p.R1126Q|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.R1126Q|GPRASP1_ENST00000415986.1_Missense_Mutation_p.R1126Q	p.R1126Q	NM_001184727.1	NP_001171656.1	WXS	Illumina GAIIx	Phase_I	Q5JY77	GASP1_HUMAN			6	4190	+			1126			OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.3377G>A	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	7.402	0.632894	0.14322	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	2.74	1.86	0.25419	Armadillo-type fold (1);	.	.	.	.	T	0.11965	0.0291	M	0.66939	2.045	0.23411	N	0.997734	P	0.36438	0.553	B	0.25140	0.058	T	0.21415	-1.0246	9	0.56958	D	0.05	-1.9212	4.949	0.14004	0.1795:0.0:0.8205:0.0	.	1126	Q5JY77	GASP1_HUMAN	Q	1126	ENSP00000393691:R1126Q;ENSP00000409420:R1126Q;ENSP00000355146:R1126Q;ENSP00000445683:R1126Q	ENSP00000355146:R1126Q	R	+	2	0	GPRASP1	101798874	0.982000	0.34865	0.995000	0.50966	0.686000	0.39977	0.891000	0.28309	0.568000	0.29311	0.284000	0.19432	CGA		0.463	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		52	76	0	0	0	1	0	52	76					A	101912218	G	A	101912218	3	1	48	1	0	0	0	0	1	0	0	0	6731	1058	37	1	3379	1	GPRASP1	23	101912218	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	626	101912218	53358342	4573	9041										
GPRASP2	114928	broad.mit.edu	37	chrX	101970234	101970234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcacaggcagaaggagtgtCccagactaatgccgttgctt	12	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101970234C>T	ENST00000535209.1	+	4	1268	c.437C>T	c.(436-438)tCc>tTc	p.S146F	GPRASP2_ENST00000332262.5_Missense_Mutation_p.S146F|GPRASP2_ENST00000543253.1_Missense_Mutation_p.S146F			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	146						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						GAAGGAGTGTCCCAGACTAAT	0.532																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(436-438)tCc>tTc		G protein-coupled receptor associated sorting protein 2							105	102	103					X																	101970234		2203	4300	6503	SO:0001583	missense	114928							g.chrX:101970234C>T	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.437C>T	X.37:g.101970234C>T	ENSP00000437394:p.Ser146Phe		Somatic				GPRASP2_ENST00000535209.1_Missense_Mutation_p.S146F|GPRASP2_ENST00000332262.5_Missense_Mutation_p.S146F	p.S146F	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1	WXS	Illumina GAIIx	Phase_I					5	1356	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.437C>T	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	4.987	0.183371	0.09495	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.08720	3.06;3.06;3.06	4.62	2.81	0.32909	.	1.497210	0.04076	N	0.308885	T	0.07324	0.0185	N	0.24115	0.695	0.09310	N	1	B	0.33379	0.41	B	0.35510	0.204	T	0.33059	-0.9883	10	0.56958	D	0.05	.	2.9842	0.05963	0.2349:0.5565:0.0:0.2086	.	146	Q96D09	GASP2_HUMAN	F	146	ENSP00000437872:S146F;ENSP00000437394:S146F;ENSP00000339057:S146F	ENSP00000339057:S146F	S	+	2	0	GPRASP2	101856890	0.001000	0.12720	0.001000	0.08648	0.014000	0.08584	1.367000	0.34204	1.016000	0.39470	0.529000	0.55759	TCC		0.532	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		93	156	0	0	0	1	0	93	156					T	101970234	C	T	101970234	3	4	48	1	0	0	0	0	1	0	0	0	6732	855	30	3	439	3	GPRASP2	23	101970234	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	58016	101970234	53300326	4574	9042										
BHLHB9	80823	broad.mit.edu	37	chrX	102005204	102005204	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggacagcaatctggattaaaGatactaggacaactgactac	9	8	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102005204G>T	ENST00000372735.1	+	4	1866	c.1281G>T	c.(1279-1281)aaG>aaT	p.K427N	BHLHB9_ENST00000361229.4_Missense_Mutation_p.K427N|BHLHB9_ENST00000457056.1_Missense_Mutation_p.K427N|BHLHB9_ENST00000447531.1_Missense_Mutation_p.K427N|BHLHB9_ENST00000448867.1_Missense_Mutation_p.K427N			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	427					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGGATTAAAGATACTAGGAC	0.378																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1279-1281)aaG>aaT		basic helix-loop-helix domain containing, class B, 9							82	76	78					X																	102005204		2203	4300	6503	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102005204G>T	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.1281G>T	X.37:g.102005204G>T	ENSP00000361820:p.Lys427Asn		Somatic				BHLHB9_ENST00000448867.1_Missense_Mutation_p.K427N|BHLHB9_ENST00000361229.4_Missense_Mutation_p.K427N|BHLHB9_ENST00000457056.1_Missense_Mutation_p.K427N|BHLHB9_ENST00000447531.1_Missense_Mutation_p.K427N	p.K427N			WXS	Illumina GAIIx	Phase_I	Q6PI77	BHLH9_HUMAN			4	1866	+			427					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.1281G>T	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331286	0.41297	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	4.44	1.63	0.23807	Armadillo-type fold (1);	0.000000	0.44688	D	0.000424	T	0.33469	0.0864	L	0.39898	1.24	0.29403	N	0.861796	D	0.58620	0.983	P	0.54210	0.745	T	0.18335	-1.0340	9	.	.	.	-1.9446	3.1137	0.06367	0.2311:0.0:0.5569:0.2121	.	427	Q6PI77	BHLH9_HUMAN	N	427	ENSP00000403226:K427N;ENSP00000354675:K427N;ENSP00000405893:K427N;ENSP00000391722:K427N;ENSP00000361820:K427N	.	K	+	3	2	BHLHB9	101891860	1.000000	0.71417	0.755000	0.31263	0.955000	0.61496	1.383000	0.34385	0.200000	0.20447	0.422000	0.28245	AAG		0.378	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		23	60	1	0	2.89027e-11	1	3.58842e-11	23	60					T	102005204	G	T	102005204	3	4	48	1	0	0	0	0	1	0	0	0	1420	933	33	2	1283	2	BHLHB9	23	102005204	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	34970	102005204	53265356	4575	9043										
TCEAL5	340543	broad.mit.edu	37	chrX	102529347	102529347	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctcgctttccctcgcattCtgtcttcccctccatgtccg	5	19	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102529347C>A	ENST00000372680.1	-	3	439	c.145G>T	c.(145-147)Gaa>Taa	p.E49*		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	49	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						ccctcgcattctgtcttcccc	0.512																																						ENST00000372680.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						c.(145-147)Gaa>Taa		transcription elongation factor A (SII)-like 5							204	135	158					X																	102529347		2203	4300	6503	SO:0001587	stop_gained	340543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chrX:102529347C>A		CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.145G>T	X.37:g.102529347C>A	ENSP00000361765:p.Glu49*		Somatic					p.E49*	NM_001012979.2	NP_001012997.1	WXS	Illumina GAIIx	Phase_I	Q5H9L2	TCAL5_HUMAN			3	439	-			49			Glu-rich.		A2RUJ4	Nonsense_Mutation	SNP	ENST00000372680.1	37	c.145G>T	CCDS35356.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765074	0.96906	.	.	ENSG00000204065	ENST00000372680	.	.	.	3.02	1.22	0.21188	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	4.708	0.12858	0.0:0.6813:0.0:0.3187	.	.	.	.	X	49	.	ENSP00000361765:E49X	E	-	1	0	TCEAL5	102416003	0.033000	0.19621	0.000000	0.03702	0.821000	0.46438	0.435000	0.21510	0.205000	0.20568	0.292000	0.19580	GAA		0.512	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057696.1	XM_291334		32	48	1	0	1.06801e-11	1	1.33247e-11	32	48					A	102529347	C	A	102529347	4	1	48	1	0	0	0	0	0	1	0	0	15689	922	32	2	479	2	TCEAL5	23	102529347	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	524143	102529347	52741213	4576	9044										
BEX2	84707	broad.mit.edu	37	chrX	102564538	102564538	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagggcataaggcaaaactCatcgtgatggtcatggtgag	13	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102564538C>A	ENST00000372677.3	-	3	634	c.367G>T	c.(367-369)Gag>Tag	p.E123*	BEX2_ENST00000372674.1_Nonsense_Mutation_p.E123*|BEX2_ENST00000536889.1_Nonsense_Mutation_p.E155*	NM_032621.3	NP_116010.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	123					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|lung(1)|ovary(1)	3						AGGCAAAACTCATCGTGATGG	0.483																																						ENST00000536889.1																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(463-465)Gag>Tag		brain expressed X-linked 2							185	157	166					X																	102564538		2203	4300	6503	SO:0001587	stop_gained	84707				apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus		g.chrX:102564538C>A	BC015522	CCDS14505.1, CCDS55467.1	Xq22	2014-03-21			ENSG00000133134	ENSG00000133134			30933	protein-coding gene	gene with protein product		300691				16221301	Standard	NM_001168399		Approved	DJ79P11.1	uc004eka.3	Q9BXY8	OTTHUMG00000022095	ENST00000372677.3:c.367G>T	X.37:g.102564538C>A	ENSP00000361762:p.Glu123*		Somatic				BEX2_ENST00000372674.1_Nonsense_Mutation_p.E123*|BEX2_ENST00000372677.3_Nonsense_Mutation_p.E123*	p.E155*	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	WXS	Illumina GAIIx	Phase_I	Q9BXY8	BEX2_HUMAN			3	820	-			123					B2R574|D3DXA2|F5H7H5|Q5JVV9	Nonsense_Mutation	SNP	ENST00000372677.3	37	c.463G>T	CCDS14505.1	.	.	.	.	.	.	.	.	.	.	C	37	6.231051	0.97394	.	.	ENSG00000133134	ENST00000372677;ENST00000536889;ENST00000372674	.	.	.	4.29	4.29	0.51040	.	0.000000	0.47852	D	0.000201	.	.	.	.	.	.	0.29372	N	0.863946	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.106	0.48203	0.0:1.0:0.0:0.0	.	.	.	.	X	123;155;123	.	ENSP00000361759:E123X	E	-	1	0	BEX2	102451194	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	2.725000	0.47294	2.388000	0.81334	0.600000	0.82982	GAG		0.483	BEX2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057702.1	NM_032621		67	98	1	0	1.08241e-25	1	1.52617e-25	67	98					A	102564538	C	A	102564538	4	1	48	1	0	0	0	0	0	1	0	0	1411	835	29	2	23	2	BEX2	23	102564538	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	35191	102564538	52706022	4577	9045										
MORF4L2	9643	broad.mit.edu	37	chrX	102931709	102931709	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccaccatctccgtttccagGagtcttctgcttgttctttc	7	14	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102931709G>T	ENST00000441076.2	-	4	551	c.247C>A	c.(247-249)Cct>Act	p.P83T	MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000360458.1_Missense_Mutation_p.P83T|MORF4L2_ENST00000433176.2_Missense_Mutation_p.P83T|MORF4L2_ENST00000423833.2_Missense_Mutation_p.P83T|MORF4L2_ENST00000451301.1_Missense_Mutation_p.P83T|MORF4L2_ENST00000422154.2_Missense_Mutation_p.P83T	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	83					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						CCGTTTCCAGGAGTCTTCTGC	0.562																																						ENST00000423833.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						c.(247-249)Cct>Act		mortality factor 4 like 2							71	63	66					X																	102931709		2203	4300	6503	SO:0001583	missense	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931709G>T	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.247C>A	X.37:g.102931709G>T	ENSP00000391969:p.Pro83Thr		Somatic				MORF4L2_ENST00000360458.1_Missense_Mutation_p.P83T|MORF4L2_ENST00000433176.2_Missense_Mutation_p.P83T|MORF4L2_ENST00000441076.2_Missense_Mutation_p.P83T|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000422154.2_Missense_Mutation_p.P83T|MORF4L2_ENST00000451301.1_Missense_Mutation_p.P83T	p.P83T			WXS	Illumina GAIIx	Phase_I	Q15014	MO4L2_HUMAN			3	1472	-			83					B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	c.247C>A	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334325	0.41297	.	.	ENSG00000123562	ENST00000360458;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819;ENST00000442614	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	4.38	4.38	0.52667	.	0.051413	0.85682	D	0.000000	T	0.19327	0.0464	N	0.24115	0.695	0.58432	D	0.999992	P	0.36753	0.568	B	0.34093	0.175	T	0.05209	-1.0899	10	0.19590	T	0.45	-13.2132	13.8046	0.63223	0.0:0.0:1.0:0.0	.	83	Q15014	MO4L2_HUMAN	T	83;83;83;83;65;83;83;83;83;83	ENSP00000353643:P83T;ENSP00000415476:P83T;ENSP00000394417:P83T;ENSP00000410532:P83T;ENSP00000391969:P83T;ENSP00000416120:P83T	ENSP00000353643:P83T	P	-	1	0	MORF4L2	102818365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.464000	0.73534	2.429000	0.82318	0.600000	0.82982	CCT		0.562	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		43	80	1	0	1.34996e-11	1	1.68274e-11	43	80					T	102931709	G	T	102931709	3	4	48	1	0	0	0	0	1	0	0	0	9716	1174	41	2	623	2	MORF4L2	23	102931709	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	367171	102931709	52338851	4578	9046										
TMEM31	203562	broad.mit.edu	37	chrX	102968693	102968693	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atcgattgcctgctctttttGagctttatcctgaatttctt	6	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102968693G>A	ENST00000319560.6	+	3	465	c.274G>A	c.(274-276)Gag>Aag	p.E92K	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	92						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TGCTCTTTTTGAGCTTTATCC	0.453																																						ENST00000319560.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						c.(274-276)Gag>Aag		transmembrane protein 31							276	213	234					X																	102968693		2203	4300	6503	SO:0001583	missense	203562					integral to membrane		g.chrX:102968693G>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.274G>A	X.37:g.102968693G>A	ENSP00000316940:p.Glu92Lys		Somatic				GLRA4_ENST00000372617.4_Intron	p.E92K	NM_182541.2	NP_872347.2	WXS	Illumina GAIIx	Phase_I	Q5JXX7	TMM31_HUMAN			3	465	+			92					Q8NHR4	Missense_Mutation	SNP	ENST00000319560.6	37	c.274G>A	CCDS35359.1	.	.	.	.	.	.	.	.	.	.	G	8.197	0.797246	0.16327	.	.	ENSG00000179363	ENST00000319560	.	.	.	4.81	2.08	0.27032	.	0.491581	0.15291	N	0.270143	T	0.16599	0.0399	N	0.08118	0	0.09310	N	1	B	0.24426	0.103	B	0.25140	0.058	T	0.15178	-1.0446	9	0.45353	T	0.12	.	3.8061	0.08777	0.0:0.5559:0.2132:0.2309	.	92	Q5JXX7	TMM31_HUMAN	K	92	.	ENSP00000316940:E92K	E	+	1	0	TMEM31	102855349	0.895000	0.30542	0.074000	0.20217	0.006000	0.05464	0.407000	0.21049	0.547000	0.28938	-0.223000	0.12442	GAG		0.453	TMEM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057741.1	NM_182541		10	101	0	0	0	1	0	10	101					A	102968693	G	A	102968693	3	1	48	1	0	0	0	0	1	0	0	0	16170	1291	45	3	280	3	TMEM31	23	102968693	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	36984	102968693	52301867	4579	9047										
PLP1	5354	broad.mit.edu	37	chrX	103040584	103040584	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtggccactggattgtgtttCtttggggtggcactgttctg	15	7	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:103040584C>A	ENST00000303958.2	+	2	224	c.78C>A	c.(76-78)ttC>ttA	p.F26L	PLP1_ENST00000361621.2_Missense_Mutation_p.F26L|PLP1_ENST00000418604.1_Missense_Mutation_p.F26L	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	26					astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						GATTGTGTTTCTTTGGGGTGG	0.502																																						ENST00000418604.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(76-78)ttC>ttA		proteolipid protein 1							206	191	196					X																	103040584		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103040584C>A	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"Pelizaeus-Merzbacher disease"	300401	"spastic paraplegia 2, uncomplicated"	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.78C>A	X.37:g.103040584C>A	ENSP00000305152:p.Phe26Leu		Somatic				PLP1_ENST00000303958.2_Missense_Mutation_p.F26L|PLP1_ENST00000361621.2_Missense_Mutation_p.F26L	p.F26L	NM_001128834.1	NP_001122306.1	WXS	Illumina GAIIx	Phase_I	P60201	MYPR_HUMAN			3	358	+			26					P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.78C>A	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273552	0.59649	.	.	ENSG00000123560	ENST00000434483;ENST00000429977;ENST00000455268;ENST00000422393;ENST00000433491;ENST00000418604;ENST00000443502;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-5.95;-5.95;-5.95;-5.95	5.32	4.46	0.54185	.	0.047339	0.85682	D	0.000000	D	0.99026	0.9667	L	0.56199	1.76	0.47584	D	0.99946	P;D;P	0.57257	0.899;0.979;0.927	D;D;P	0.74023	0.95;0.982;0.801	D	0.98183	1.0458	10	0.30854	T	0.27	4.1219	7.5229	0.27639	0.0:0.8017:0.0:0.1983	.	26;26;26	B1B1G6;P60201;P60201-2	.;MYPR_HUMAN;.	L	26	ENSP00000403335:F26L;ENSP00000399913:F26L;ENSP00000409802:F26L;ENSP00000413931:F26L;ENSP00000393391:F26L;ENSP00000405750:F26L;ENSP00000391853:F26L;ENSP00000305152:F26L;ENSP00000354860:F26L	ENSP00000305152:F26L	F	+	3	2	PLP1	102927240	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.659000	0.61504	1.022000	0.39626	-0.191000	0.12829	TTC		0.502	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			84	157	1	0	6.16549e-39	1	8.89393e-39	84	157					A	103040584	C	A	103040584	3	1	48	1	0	0	0	0	1	0	0	0	12113	912	32	2	84	2	PLP1	23	103040584	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	71891	103040584	52229976	4580	9048			3	9		3	3	76	N	G_C	6.395347e-05
PLP1	5354	broad.mit.edu	37	chrX	103040636	103040636	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atgaagccctcactggcacaGaaaagctaattgagacctat	8	10	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:103040636G>A	ENST00000303958.2	+	2	276	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	PLP1_ENST00000361621.2_Missense_Mutation_p.E44K|PLP1_ENST00000418604.1_Missense_Mutation_p.E44K	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	44					astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CACTGGCACAGAAAAGCTAAT	0.483																																						ENST00000418604.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(130-132)Gaa>Aaa		proteolipid protein 1							207	184	192					X																	103040636		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103040636G>A	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"Pelizaeus-Merzbacher disease"	300401	"spastic paraplegia 2, uncomplicated"	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.130G>A	X.37:g.103040636G>A	ENSP00000305152:p.Glu44Lys		Somatic				PLP1_ENST00000303958.2_Missense_Mutation_p.E44K|PLP1_ENST00000361621.2_Missense_Mutation_p.E44K	p.E44K	NM_001128834.1	NP_001122306.1	WXS	Illumina GAIIx	Phase_I	P60201	MYPR_HUMAN			3	410	+			44					P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.130G>A	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130615	0.56828	.	.	ENSG00000123560	ENST00000434483;ENST00000429977;ENST00000455268;ENST00000422393;ENST00000433491;ENST00000418604;ENST00000443502;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D;D;D;D;D;D;D	0.99292	-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7;-5.7	5.58	5.58	0.84498	.	0.043340	0.85682	D	0.000000	D	0.98704	0.9565	M	0.65975	2.015	0.49389	D	0.999782	P;P;P	0.52842	0.895;0.956;0.883	B;P;B	0.49799	0.425;0.622;0.077	D	0.99063	1.0831	10	0.30854	T	0.27	23.0403	15.8322	0.78764	0.0:0.0:1.0:0.0	.	44;44;44	B1B1G6;P60201;P60201-2	.;MYPR_HUMAN;.	K	44	ENSP00000403335:E44K;ENSP00000399913:E44K;ENSP00000409802:E44K;ENSP00000413931:E44K;ENSP00000393391:E44K;ENSP00000405750:E44K;ENSP00000391853:E44K;ENSP00000305152:E44K;ENSP00000354860:E44K	ENSP00000305152:E44K	E	+	1	0	PLP1	102927292	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.440000	0.52886	2.337000	0.79520	0.600000	0.82982	GAA		0.483	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			60	124	0	0	0	1	0	60	124					A	103040636	G	A	103040636	3	1	48	1	0	0	0	0	1	0	0	0	12113	943	33	3	136	3	PLP1	23	103040636	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	52	103040636	52229924	4581	9049			3	9		3	3	76	N	G_C	6.395347e-05
PLP1	5354	broad.mit.edu	37	chrX	103040659	103040659	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagctaattgagacctatttCtccaaaaactaccaagacta	4	10	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:103040659C>A	ENST00000303958.2	+	2	299	c.153C>A	c.(151-153)ttC>ttA	p.F51L	PLP1_ENST00000361621.2_Missense_Mutation_p.F51L|PLP1_ENST00000418604.1_Missense_Mutation_p.F51L	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	51			F -> S (in HLD1). {ECO:0000269|PubMed:11093273}.		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)	p.F51L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGACCTATTTCTCCAAAAACT	0.478																																						ENST00000418604.1																			1	Substitution - Missense(1)	p.F51L(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(151-153)ttC>ttA		proteolipid protein 1							190	170	177					X																	103040659		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103040659C>A	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"Pelizaeus-Merzbacher disease"	300401	"spastic paraplegia 2, uncomplicated"	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.153C>A	X.37:g.103040659C>A	ENSP00000305152:p.Phe51Leu		Somatic				PLP1_ENST00000303958.2_Missense_Mutation_p.F51L|PLP1_ENST00000361621.2_Missense_Mutation_p.F51L	p.F51L	NM_001128834.1	NP_001122306.1	WXS	Illumina GAIIx	Phase_I	P60201	MYPR_HUMAN			3	433	+			51		F -> S (in HLD1).			P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.153C>A	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857759	0.71834	.	.	ENSG00000123560	ENST00000434483;ENST00000429977;ENST00000455268;ENST00000422393;ENST00000433491;ENST00000418604;ENST00000443502;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D;D;D;D;D;D;D	0.99515	-6.06;-6.06;-6.06;-6.06;-6.06;-6.06;-6.06;-6.06;-6.06	5.58	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.99287	0.9751	M	0.78049	2.395	0.49687	D	0.999817	D;D;P	0.63046	0.979;0.992;0.927	D;D;P	0.76071	0.973;0.987;0.801	D	0.98931	1.0787	10	0.59425	D	0.04	-5.5143	7.5371	0.27717	0.0:0.7924:0.0:0.2076	.	51;51;51	B1B1G6;P60201;P60201-2	.;MYPR_HUMAN;.	L	51	ENSP00000403335:F51L;ENSP00000399913:F51L;ENSP00000409802:F51L;ENSP00000413931:F51L;ENSP00000393391:F51L;ENSP00000405750:F51L;ENSP00000391853:F51L;ENSP00000305152:F51L;ENSP00000354860:F51L	ENSP00000305152:F51L	F	+	3	2	PLP1	102927315	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.493000	0.45320	2.337000	0.79520	0.600000	0.82982	TTC		0.478	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			58	103	1	0	4.17463e-26	1	5.89501e-26	58	103					A	103040659	C	A	103040659	3	1	48	1	0	0	0	0	1	0	0	0	12113	912	32	2	159	2	PLP1	23	103040659	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	23	103040659	52229901	4582	9050			3	9		3	3	76	N	G_C	6.395347e-05
FAM199X	139231	broad.mit.edu	37	chrX	103411476	103411476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catctccaaccatgtccgacGaggcctcggccatcacttcc	7	18	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:103411476G>A	ENST00000493442.1	+	1	176	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	4										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CATGTCCGACGAGGCCTCGGC	0.692																																						ENST00000493442.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(10-12)Gag>Aag		family with sequence similarity 199, X-linked							19	18	19					X																	103411476		2201	4293	6494	SO:0001583	missense	139231							g.chrX:103411476G>A	BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"chromosome X open reading frame 39"	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.10G>A	X.37:g.103411476G>A	ENSP00000417581:p.Glu4Lys		Somatic					p.E4K	NM_207318.3	NP_997201.1	WXS	Illumina GAIIx	Phase_I	Q6PEV8	F199X_HUMAN			1	176	+			4					Q8WVP6|Q96AV3	Missense_Mutation	SNP	ENST00000493442.1	37	c.10G>A	CCDS35364.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258524	0.80246	.	.	ENSG00000123575	ENST00000493442	.	.	.	3.27	3.27	0.37495	.	0.486286	0.19926	N	0.102968	T	0.30386	0.0763	N	0.08118	0	0.36638	D	0.876709	P	0.47191	0.891	P	0.46049	0.502	T	0.21211	-1.0252	8	.	.	.	-11.0774	11.3403	0.49529	0.0:0.0:1.0:0.0	.	4	Q6PEV8	F199X_HUMAN	K	4	.	.	E	+	1	0	FAM199X	103298132	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	4.677000	0.61634	1.906000	0.55180	0.429000	0.28392	GAG		0.692	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318		10	15	0	0	0	1	0	10	15					A	103411476	G	A	103411476	3	1	48	1	0	0	0	0	1	0	0	0	5535	1059	37	1	12	1	FAM199X	23	103411476	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	370817	103411476	51859084	4583	9051										
IL1RAPL2	26280	broad.mit.edu	37	chrX	104478596	104478596	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaggatccgctatttagaaAaatctgaagtcactaaaaga	8	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:104478596A>C	ENST00000372582.1	+	4	1207	c.451A>C	c.(451-453)Aaa>Caa	p.K151Q	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K151Q	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	151	Ig-like C2-type 2.				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						CTATTTAGAAAAATCTGAAGT	0.418																																						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.(451-453)Aaa>Caa		interleukin 1 receptor accessory protein-like 2							108	103	105					X																	104478596		2203	4299	6502	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104478596A>C	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.451A>C	X.37:g.104478596A>C	ENSP00000361663:p.Lys151Gln		Somatic				IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K151Q	p.K151Q	NM_017416.1	NP_059112.1	WXS	Illumina GAIIx	Phase_I	Q9NP60	IRPL2_HUMAN			4	1207	+			151			Ig-like C2-type 2.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.451A>C	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567568	0.65651	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.03717	3.83;3.83	5.24	5.24	0.73138	Immunoglobulin subtype (1);	0.000000	0.64402	D	0.000014	T	0.14960	0.0361	M	0.80028	2.48	0.80722	D	1	D	0.58970	0.984	P	0.61070	0.883	T	0.07751	-1.0756	10	0.23891	T	0.37	.	13.3514	0.60603	1.0:0.0:0.0:0.0	.	151	Q9NP60	IRPL2_HUMAN	Q	151	ENSP00000361663:K151Q;ENSP00000344976:K151Q	ENSP00000344976:K151Q	K	+	1	0	IL1RAPL2	104365252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	1.747000	0.51819	0.441000	0.28932	AAA		0.418	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		31	59	0	0	0	1	0	31	59					C	104478596	A	C	104478596	3	2	48	1	0	0	0	0	1	0	0	0	7671	15	1	4	461	4	IL1RAPL2	23	104478596	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1067120	104478596	50791964	4584	9052										
NRK	203447	broad.mit.edu	37	chrX	105179175	105179175	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttgcagtatacgctggattCgtagaagtacctgaggaatc	11	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105179175C>T	ENST00000243300.9	+	21	3816	c.3513C>T	c.(3511-3513)ttC>ttT	p.F1171F	NRK_ENST00000428173.2_Silent_p.F1172F	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1171					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACGCTGGATTCGTAGAAGTAC	0.373										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(3514-3516)ttC>ttT		Nik related kinase							179	159	165					X																	105179175		1891	4103	5994	SO:0001819	synonymous_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105179175C>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3513C>T	X.37:g.105179175C>T		HNSCC(51;0.14)	Somatic				NRK_ENST00000243300.9_Silent_p.F1171F	p.F1172F			WXS	Illumina GAIIx	Phase_I	Q7Z2Y5	NRK_HUMAN			21	3819	+			1171					Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	ENST00000243300.9	37	c.3516C>T																																																																																					0.373	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		28	65	0	0	0	1	0	28	65					T	105179175	C	T	105179175	2	4	48	1	0	0	0	0	0	0	0	1	10664	883	31	1		1	NRK	23	105179175	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	700579	105179175	50091385	4585	9053										
NRK	203447	broad.mit.edu	37	chrX	105187975	105187975	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tattgcaattgctttgaaatCatcaattcacctttatgcat	4	8	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105187975C>A	ENST00000243300.9	+	24	4304	c.4001C>A	c.(4000-4002)tCa>tAa	p.S1334*	NRK_ENST00000428173.2_Nonsense_Mutation_p.S1335*	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1334	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.S1335*(1)|p.S1334*(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GCTTTGAAATCATCAATTCAC	0.323										HNSCC(51;0.14)																												ENST00000428173.2																			2	Substitution - Nonsense(2)	p.S1335*(1)|p.S1334*(1)	endometrium(2)	breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(4003-4005)tCa>tAa		Nik related kinase							126	103	110					X																	105187975		1860	4092	5952	SO:0001587	stop_gained	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105187975C>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4001C>A	X.37:g.105187975C>A	ENSP00000434830:p.Ser1334*	HNSCC(51;0.14)	Somatic				NRK_ENST00000243300.9_Nonsense_Mutation_p.S1334*	p.S1335*			WXS	Illumina GAIIx	Phase_I	Q7Z2Y5	NRK_HUMAN			24	4307	+			1334			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Nonsense_Mutation	SNP	ENST00000243300.9	37	c.4004C>A		.	.	.	.	.	.	.	.	.	.	C	45	11.477006	0.99566	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	.	.	.	5.44	4.49	0.54785	.	0.000000	0.39687	N	0.001290	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7054	0.23248	0.4357:0.434:0.1302:0.0	.	.	.	.	X	1334;1335	.	ENSP00000434830:S1334X	S	+	2	0	NRK	105074631	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.517000	0.45529	2.262000	0.75019	0.594000	0.82650	TCA		0.323	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		3	6	1	0	0.00909568	1	0.00935351	3	6					A	105187975	C	A	105187975	4	1	48	1	0	0	0	0	0	1	0	0	10664	838	29	2	4095	2	NRK	23	105187975	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	8800	105187975	50082585	4586	9054										
NRK	203447	broad.mit.edu	37	chrX	105190310	105190310	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggttttatattcacaggtaTttccaacacttgatcataag	6	7	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105190310T>G	ENST00000243300.9	+	26	4510	c.4207T>G	c.(4207-4209)Ttt>Gtt	p.F1403V	NRK_ENST00000428173.2_Missense_Mutation_p.F1404V|NRK_ENST00000540278.1_5'Flank	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1403	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTCACAGGTATTTCCAACACT	0.368										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(4210-4212)Ttt>Gtt		Nik related kinase							58	48	51					X																	105190310		1836	4079	5915	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105190310T>G	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.4207T>G	X.37:g.105190310T>G	ENSP00000434830:p.Phe1403Val	HNSCC(51;0.14)	Somatic				NRK_ENST00000243300.9_Missense_Mutation_p.F1403V	p.F1404V			WXS	Illumina GAIIx	Phase_I	Q7Z2Y5	NRK_HUMAN			26	4513	+			1403			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.4210T>G		.	.	.	.	.	.	.	.	.	.	T	15.67	2.903082	0.52227	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.04706	3.57;3.57	5.98	5.98	0.97165	Citron-like (2);	0.741229	0.11678	N	0.540113	T	0.22627	0.0546	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00045	-1.2215	10	0.87932	D	0	.	14.4107	0.67113	0.0:0.0:0.0:1.0	.	1403	Q7Z2Y5	NRK_HUMAN	V	1403;1404	ENSP00000434830:F1403V;ENSP00000438378:F1404V	ENSP00000434830:F1403V	F	+	1	0	NRK	105076966	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.368000	0.73104	2.002000	0.58637	0.486000	0.48141	TTT		0.368	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		5	20	0	0	0	1	0	5	20					G	105190310	T	G	105190310	3	3	48	1	0	0	0	0	1	0	0	0	10664	1493	52	4	4309	4	NRK	23	105190310	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	2335	105190310	50080250	4587	9055										
SERPINA7	6906	broad.mit.edu	37	chrX	105280576	105280576	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttggagaagtcggtagaaaaGacttcagtctcatagagggt	13	5	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105280576G>T	ENST00000327674.4	-	1	809	c.474C>A	c.(472-474)gtC>gtA	p.V158V	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Silent_p.V158V			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	158					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CGGTAGAAAAGACTTCAGTCT	0.438																																						ENST00000327674.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24						c.(472-474)gtC>gtA		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	Levothyroxine(DB00451)|Liothyronine(DB00279)						165	154	158					X																	105280576		2203	4300	6503	SO:0001819	synonymous_variant	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280576G>T	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"Serine (or cysteine) peptidase inhibitors"	11583	protein-coding gene	gene with protein product	"thyroxin-binding globulin", "thyroxine-binding globulin", "alpha-1 antiproteinase, antitrypsin"	314200	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.474C>A	X.37:g.105280576G>T			Somatic				SERPINA7_ENST00000372563.1_Silent_p.V158V	p.V158V			WXS	Illumina GAIIx	Phase_I	P05543	THBG_HUMAN			1	809	-			158					D3DUX1	Silent	SNP	ENST00000327674.4	37	c.474C>A	CCDS14518.1																																																																																				0.438	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		55	97	1	0	1.27102e-15	1	1.67768e-15	55	97					T	105280576	G	T	105280576	2	4	48	1	0	0	0	0	0	0	0	1	14109	929	33	2		2	SERPINA7	23	105280576	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	90266	105280576	49989984	4588	9056										
MUM1L1	139221	broad.mit.edu	37	chrX	105451046	105451046	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaatgtccttccaaaaaattCtccctgaccggatgaaggct	7	11	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105451046C>A	ENST00000357175.2	+	4	2270	c.1621C>A	c.(1621-1623)Ctc>Atc	p.L541I	MUM1L1_ENST00000337685.2_Missense_Mutation_p.L541I|MUM1L1_ENST00000372552.1_Missense_Mutation_p.L541I	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	541						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCAAAAAATTCTCCCTGACCG	0.473																																						ENST00000337685.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1621-1623)Ctc>Atc		melanoma associated antigen (mutated) 1-like 1							56	49	51					X																	105451046		1859	4076	5935	SO:0001583	missense	139221							g.chrX:105451046C>A	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1621C>A	X.37:g.105451046C>A	ENSP00000349699:p.Leu541Ile		Somatic				MUM1L1_ENST00000357175.2_Missense_Mutation_p.L541I|MUM1L1_ENST00000372552.1_Missense_Mutation_p.L541I	p.L541I	NM_152423.4	NP_689636.3	WXS	Illumina GAIIx	Phase_I	Q5H9M0	MUML1_HUMAN			5	2406	+			541					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.1621C>A	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493745	0.64186	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.46819	0.86;0.86;0.86	5.08	5.08	0.68730	.	0.000000	0.46758	D	0.000264	T	0.66973	0.2844	M	0.73598	2.24	0.34774	D	0.734005	D	0.76494	0.999	D	0.80764	0.994	T	0.77776	-0.2461	10	0.87932	D	0	-15.6989	12.7039	0.57049	0.0:1.0:0.0:0.0	.	541	Q5H9M0	MUML1_HUMAN	I	541	ENSP00000349699:L541I;ENSP00000338641:L541I;ENSP00000361632:L541I	ENSP00000338641:L541I	L	+	1	0	MUM1L1	105337702	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.462000	0.66707	2.494000	0.84150	0.600000	0.82982	CTC		0.473	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		9	13	1	0	1.12685e-05	1	1.24509e-05	9	13					A	105451046	C	A	105451046	3	1	48	1	0	0	0	0	1	0	0	0	9995	913	32	2	1623	2	MUM1L1	23	105451046	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	170470	105451046	49819514	4589	9057										
CXorf57	55086	broad.mit.edu	37	chrX	105876450	105876450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtggaactgttttcaacatCgcagccagaaatctttgaaa	8	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105876450C>T	ENST00000372548.4	+	6	1380	c.1271C>T	c.(1270-1272)tCg>tTg	p.S424L	CXorf57_ENST00000372544.2_Missense_Mutation_p.S424L	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	424							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTTCAACATCGCAGCCAGAA	0.318																																						ENST00000372548.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1270-1272)tCg>tTg		chromosome X open reading frame 57							61	59	60					X																	105876450		2203	4299	6502	SO:0001583	missense	55086							g.chrX:105876450C>T	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1271C>T	X.37:g.105876450C>T	ENSP00000361628:p.Ser424Leu		Somatic				CXorf57_ENST00000372544.2_Missense_Mutation_p.S424L	p.S424L	NM_018015.5	NP_060485.4	WXS	Illumina GAIIx	Phase_I	Q6NSI4	CX057_HUMAN			6	1380	+			424					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.1271C>T	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237982	0.79800	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.68624	-0.34;-0.28;-0.22	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.80003	0.4544	M	0.66939	2.045	0.48395	D	0.99964	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.82649	-0.0353	10	0.72032	D	0.01	-13.7404	15.5498	0.76141	0.0:1.0:0.0:0.0	.	424;424;424	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	L	424;424;232	ENSP00000361623:S424L;ENSP00000361628:S424L;ENSP00000405866:S232L	ENSP00000361623:S424L	S	+	2	0	CXorf57	105763106	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.781000	0.62389	2.164000	0.68074	0.594000	0.82650	TCG		0.318	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		20	44	0	0	0	1	0	20	44					T	105876450	C	T	105876450	3	4	48	1	0	0	0	0	1	0	0	0	4115	893	31	1	1293	1	CXorf57	23	105876450	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	425404	105876450	49394110	4590	9058										
RNF128	79589	broad.mit.edu	37	chrX	106038844	106038844	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggtaaaccatgaagcaaaTtctgtggcagtggatgttat	11	6	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106038844T>G	ENST00000255499.2	+	7	1438	c.1188T>G	c.(1186-1188)aaT>aaG	p.N396K	RNF128_ENST00000324342.3_Missense_Mutation_p.N370K	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	396					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATGAAGCAAATTCTGTGGCAG	0.358																																						ENST00000255499.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(1186-1188)aaT>aaG		ring finger protein 128, E3 ubiquitin protein ligase							167	167	167					X																	106038844		2202	4300	6502	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106038844T>G	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.1188T>G	X.37:g.106038844T>G	ENSP00000255499:p.Asn396Lys		Somatic				RNF128_ENST00000324342.3_Missense_Mutation_p.N370K	p.N396K	NM_194463.1	NP_919445.1	WXS	Illumina GAIIx	Phase_I	Q8TEB7	RN128_HUMAN			7	1438	+			396					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	c.1188T>G	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.529844	0.27387	.	.	ENSG00000133135	ENST00000324342;ENST00000255499	T;T	0.10860	3.02;2.83	5.71	4.55	0.56014	.	0.785223	0.12308	N	0.480462	T	0.04724	0.0128	N	0.08118	0	0.29888	N	0.825411	B;B	0.16396	0.017;0.01	B;B	0.18561	0.01;0.022	T	0.40776	-0.9545	10	0.07813	T	0.8	.	5.2585	0.15559	0.0:0.0933:0.1764:0.7303	.	396;370	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	K	370;396	ENSP00000316127:N370K;ENSP00000255499:N396K	ENSP00000255499:N396K	N	+	3	2	RNF128	105925500	0.315000	0.24571	0.755000	0.31263	0.930000	0.56654	1.215000	0.32431	0.776000	0.33473	0.481000	0.45027	AAT		0.358	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		23	165	0	0	0	1	0	23	165					G	106038844	T	G	106038844	3	3	48	1	0	0	0	0	1	0	0	0	13451	1490	52	4	1624	4	RNF128	23	106038844	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	162394	106038844	49231716	4591	9059										
TBC1D8B	54885	broad.mit.edu	37	chrX	106083350	106083350	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacgtggtgttagtatgtttCgaaccaaaaagactcgagat	11	6	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106083350C>T	ENST00000357242.5	+	9	1600	c.1426C>T	c.(1426-1428)Cga>Tga	p.R476*	TBC1D8B_ENST00000310452.2_Nonsense_Mutation_p.R476*|TBC1D8B_ENST00000276175.3_Nonsense_Mutation_p.R470*	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	476							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			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						TAGTATGTTTCGAACCAAAAA	0.348																																						ENST00000357242.5																			0				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.(1426-1428)Cga>Tga		TBC1 domain family, member 8B (with GRAM domain)							150	138	142					X																	106083350		2203	4300	6503	SO:0001587	stop_gained	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106083350C>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.1426C>T	X.37:g.106083350C>T	ENSP00000349781:p.Arg476*		Somatic				TBC1D8B_ENST00000276175.3_Nonsense_Mutation_p.R470*|TBC1D8B_ENST00000310452.2_Nonsense_Mutation_p.R476*	p.R476*	NM_017752.2	NP_060222.2	WXS	Illumina GAIIx	Phase_I	Q0IIM8	TBC8B_HUMAN			9	1600	+			476					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Nonsense_Mutation	SNP	ENST00000357242.5	37	c.1426C>T	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	C	40	8.003357	0.98605	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000276175	.	.	.	5.88	5.88	0.94601	.	0.138785	0.49305	D	0.000142	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.169	17.5848	0.87978	0.0:1.0:0.0:0.0	.	.	.	.	X	476;476;470	.	ENSP00000276175:R470X	R	+	1	2	TBC1D8B	105970006	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.828000	0.62730	2.474000	0.83562	0.600000	0.82982	CGA		0.348	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		33	67	0	0	0	1	0	33	67					T	106083350	C	T	106083350	4	4	48	1	0	0	0	0	0	1	0	0	15641	876	31	1	1460	1	TBC1D8B	23	106083350	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	44506	106083350	49187210	4592	9060										
TBC1D8B	54885	broad.mit.edu	37	chrX	106093368	106093368	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagtttctctctcttggtttCtcacactttttattagtgtg	6	9	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106093368C>A	ENST00000357242.5	+	12	2125	c.1951C>A	c.(1951-1953)Ctc>Atc	p.L651I	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.L645I	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	651	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			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						CTCTTGGTTTCTCACACTTTT	0.413																																						ENST00000357242.5																			0				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.(1951-1953)Ctc>Atc		TBC1 domain family, member 8B (with GRAM domain)							242	186	205					X																	106093368		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106093368C>A	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.1951C>A	X.37:g.106093368C>A	ENSP00000349781:p.Leu651Ile		Somatic				TBC1D8B_ENST00000276175.3_Missense_Mutation_p.L645I	p.L651I	NM_017752.2	NP_060222.2	WXS	Illumina GAIIx	Phase_I	Q0IIM8	TBC8B_HUMAN			12	2125	+			651			Rab-GAP TBC.		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.1951C>A	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769321	0.90020	.	.	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.13307	2.6;2.6	5.2	5.2	0.72013	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000001	T	0.38957	0.1060	M	0.74546	2.27	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.22556	-1.0213	10	0.59425	D	0.04	-7.1289	16.2861	0.82722	0.0:1.0:0.0:0.0	.	651	Q0IIM8	TBC8B_HUMAN	I	651;645	ENSP00000349781:L651I;ENSP00000276175:L645I	ENSP00000276175:L645I	L	+	1	0	TBC1D8B	105980024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.148000	0.66965	0.594000	0.82650	CTC		0.413	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		28	43	1	0	1.33986e-20	1	1.83757e-20	28	43					A	106093368	C	A	106093368	3	1	48	1	0	0	0	0	1	0	0	0	15641	913	32	2	2063	2	TBC1D8B	23	106093368	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	10018	106093368	49177192	4593	9061										
TBC1D8B	54885	broad.mit.edu	37	chrX	106116961	106116961	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acatcatcagccaaaggattCtctggtactgtctgtggttc	9	10	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106116961C>A	ENST00000357242.5	+	21	3303	c.3129C>A	c.(3127-3129)ttC>ttA	p.F1043L	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.F1037L	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1043							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			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						CCAAAGGATTCTCTGGTACTG	0.453																																						ENST00000357242.5																			0				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.(3127-3129)ttC>ttA		TBC1 domain family, member 8B (with GRAM domain)							124	118	120					X																	106116961		2203	4300	6503	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106116961C>A	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.3129C>A	X.37:g.106116961C>A	ENSP00000349781:p.Phe1043Leu		Somatic				TBC1D8B_ENST00000276175.3_Missense_Mutation_p.F1037L	p.F1043L	NM_017752.2	NP_060222.2	WXS	Illumina GAIIx	Phase_I	Q0IIM8	TBC8B_HUMAN			21	3303	+			1043					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.3129C>A	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.496973	0.01001	.	.	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.06849	3.25;3.25	5.34	1.38	0.22167	.	1.315610	0.05008	N	0.470344	T	0.06188	0.0160	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43782	-0.9370	10	0.22706	T	0.39	3.3913	5.0105	0.14310	0.1368:0.3546:0.4252:0.0835	.	1043	Q0IIM8	TBC8B_HUMAN	L	1043;1037	ENSP00000349781:F1043L;ENSP00000276175:F1037L	ENSP00000276175:F1037L	F	+	3	2	TBC1D8B	106003617	0.000000	0.05858	0.014000	0.15608	0.226000	0.24999	-0.580000	0.05827	-0.080000	0.12685	0.594000	0.82650	TTC		0.453	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		35	82	1	0	9.8876e-21	1	1.35804e-20	35	82					A	106116961	C	A	106116961	3	1	48	1	0	0	0	0	1	0	0	0	15641	912	32	2	3277	2	TBC1D8B	23	106116961	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	23593	106116961	49153599	4594	9062										
RIPPLY1	9075	broad.mit.edu	37	chrX	106146382	106146382	+	Intron	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctttcactcccatttacttCttgtccagaggagagaaggc	8	12	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106146382C>A	ENST00000541806.1	+	1	341				RIPPLY1_ENST00000276173.4_Nonsense_Mutation_p.E46*|RIPPLY1_ENST00000411805.1_Nonsense_Mutation_p.E46*	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2						calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CCATTTACTTCTTGTCCAGAG	0.527																																						ENST00000276173.4																			0				lung(1)|urinary_tract(1)	2						c.(136-138)Gaa>Taa		ripply transcriptional repressor 1							42	44	43					X																	106146382		1996	4164	6160	SO:0001627	intron_variant	92129				negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus		g.chrX:106146382C>A	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"Claudins"	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.-179+2648C>A	X.37:g.106146382C>A			Somatic				CLDN2_ENST00000541806.1_Intron|RIPPLY1_ENST00000411805.1_Nonsense_Mutation_p.E46*	p.E46*	NM_138382.2	NP_612391.1	WXS	Illumina GAIIx	Phase_I	Q0D2K3	RIPP1_HUMAN			1	165	-			46					B2R6B9	Nonsense_Mutation	SNP	ENST00000541806.1	37	c.136G>T	CCDS14524.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304156	0.60305	.	.	ENSG00000147223	ENST00000276173;ENST00000411805	.	.	.	4.44	3.58	0.41010	.	0.283330	0.27227	N	0.020334	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	9.2143	0.37337	0.0:0.7646:0.2354:0.0	.	.	.	.	X	46	.	ENSP00000276173:E46X	E	-	1	0	RIPPLY1	106033038	0.999000	0.42202	0.960000	0.40013	0.261000	0.26267	2.005000	0.40864	1.201000	0.43203	0.600000	0.82982	GAA		0.527	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			8	16	1	0	1.12685e-05	1	1.24509e-05	8	16					A	106146382	C	A	106146382	1	1	48	0	1	0	0	0	0	0	0	0	13399	922	32	2		2	RIPPLY1	23	106146382	Intron	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	29421	106146382	49124178	4595	9063										
NUP62CL	54830	broad.mit.edu	37	chrX	106396734	106396734	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctccatgtaaaatacgaatCtataaagagaaatatgaata	5	5	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106396734C>A	ENST00000372466.4	-	6	597		c.e6-1		NUP62CL_ENST00000372461.3_Splice_Site	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like						protein transport (GO:0015031)	nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			lung(4)	4						AAATACGAATCTATAAAGAGA	0.254																																						ENST00000372466.4																			0				lung(4)	4						c.e6-1		nucleoporin 62kDa C-terminal like							35	34	34					X																	106396734		2198	4282	6480	SO:0001630	splice_region_variant	54830				protein transport	nuclear pore	structural constituent of nuclear pore	g.chrX:106396734C>A	AK000137	CCDS14527.1	Xq22.3	2008-02-05			ENSG00000198088	ENSG00000198088			25960	protein-coding gene	gene with protein product						12477932	Standard	NM_017681		Approved	FLJ20130	uc004ena.3	Q9H1M0	OTTHUMG00000022159	ENST00000372466.4:c.346-1G>T	X.37:g.106396734C>A			Somatic				NUP62CL_ENST00000372461.3_Splice_Site		NM_017681.2	NP_060151.2	WXS	Illumina GAIIx	Phase_I	Q9H1M0	N62CL_HUMAN			6	597	-								D3DUX4|Q8WVL6|Q9NXP2	Splice_Site	SNP	ENST00000372466.4	37		CCDS14527.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016476	0.35606	.	.	ENSG00000198088	ENST00000372466;ENST00000372465;ENST00000372461;ENST00000432145;ENST00000421752	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8632	0.70397	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP62CL	106283390	1.000000	0.71417	0.913000	0.36048	0.389000	0.30415	6.250000	0.72435	2.092000	0.63282	0.436000	0.28706	.		0.254	NUP62CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057828.1	NM_017681	Intron	10	14	1	0	0.00829132	1	0.00855608	10	14					A	106396734	C	A	106396734	5	1	48	1	0	0	0	0	0	0	1	0	10778	927	32	2	221	2	NUP62CL	23	106396734	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	250352	106396734	48873826	4596	9064										
TSC22D3	392517	broad.mit.edu	37	chrX	107018442	107018442	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cggctctagcgaatcctgccGcattatgctgttgagcttgt	11	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107018442G>A	ENST00000509000.2	+	0	0				TSC22D3_ENST00000315660.4_Missense_Mutation_p.R70W|TSC22D3_ENST00000514426.1_Missense_Mutation_p.R2W|TSC22D3_ENST00000506081.1_Missense_Mutation_p.R70W|TSC22D3_ENST00000372383.4_Missense_Mutation_p.R70W|TSC22D3_ENST00000372384.2_Missense_Mutation_p.R70W			A6PVI3	NCB2L_HUMAN	nuclear cap binding protein subunit 2-like						mRNA cis splicing, via spliceosome (GO:0045292)	nuclear cap binding complex (GO:0005846)	nucleotide binding (GO:0000166)|RNA cap binding (GO:0000339)			large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						GAATCCTGCCGCATTATGCTG	0.562																																						ENST00000372383.4																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(208-210)Cgg>Tgg		TSC22 domain family, member 3							130	99	109					X																	107018442		2203	4300	6503	SO:0001631	upstream_gene_variant	1831						sequence-specific DNA binding transcription factor activity	g.chrX:107018442G>A			Xq22.3	2013-02-12			ENSG00000170935	ENSG00000170935		"RNA binding motif (RRM) containing"	31795	protein-coding gene	gene with protein product							Standard	NG_011409		Approved			A6PVI3	OTTHUMG00000022169		X.37:g.107018442G>A	Exception_encountered		Somatic				TSC22D3_ENST00000315660.4_Missense_Mutation_p.R70W|TSC22D3_ENST00000506081.1_Missense_Mutation_p.R70W|TSC22D3_ENST00000372384.2_Missense_Mutation_p.R70W|TSC22D3_ENST00000514426.1_Missense_Mutation_p.R2W	p.R70W	NM_198057.2	NP_932174.1	WXS	Illumina GAIIx	Phase_I	Q99576	T22D3_HUMAN			1	575	-			0						Missense_Mutation	SNP	ENST00000509000.2	37	c.208C>T		.	.	.	.	.	.	.	.	.	.	G	17.94	3.512425	0.64522	.	.	ENSG00000157514	ENST00000315660;ENST00000372383;ENST00000372384;ENST00000506081;ENST00000514426;ENST00000514897;ENST00000480691;ENST00000510887;ENST00000502650;ENST00000506724;ENST00000505965	.	.	.	5.22	3.41	0.39046	.	0.301954	0.38326	N	0.001727	T	0.53286	0.1787	N	0.14661	0.345	0.45979	D	0.998799	D	0.89917	1.0	D	0.80764	0.994	T	0.55903	-0.8067	9	0.66056	D	0.02	-16.8342	10.8647	0.46847	0.0:0.0:0.5048:0.4952	.	70	Q99576-3	.	W	70;70;70;70;2;70;70;70;70;70;70	.	ENSP00000314655:R70W	R	-	1	2	TSC22D3	106905098	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.017000	0.49615	0.490000	0.27771	-0.205000	0.12727	CGG		0.562	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000057850.2	XM_373362		43	59	0	0	0	1	0	43	59					A	107018442	G	A	107018442	1	1	48	0	1	0	0	0	0	0	0	0	16624	1086	38	1		1	TSC22D3	23	107018442	5'Flank	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	621708	107018442	48252118	4597	9065										
MID2	11043	broad.mit.edu	37	chrX	107169924	107169924	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgcaattggcattgcctacaAatcagctccaaagaatgaat	7	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107169924A>G	ENST00000262843.6	+	10	2377	c.1829A>G	c.(1828-1830)aAa>aGa	p.K610R	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.K580R	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	610	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						ATTGCCTACAAATCAGCTCCA	0.398																																						ENST00000262843.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(1828-1830)aAa>aGa		midline 2							91	74	80					X																	107169924		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107169924A>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.1829A>G	X.37:g.107169924A>G	ENSP00000262843:p.Lys610Arg		Somatic				RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.K580R	p.K610R	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	WXS	Illumina GAIIx	Phase_I	Q9UJV3	TRIM1_HUMAN			10	2377	+			610			B30.2/SPRY.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.1829A>G	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	A	11.87	1.766988	0.31320	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.61859	0.07;0.07	5.35	5.35	0.76521	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	0.48095	0.1481	L	0.33753	1.03	0.51012	D	0.999903	B;B	0.26512	0.151;0.007	B;B	0.33690	0.168;0.008	T	0.40175	-0.9577	10	0.20046	T	0.44	.	12.1583	0.54089	1.0:0.0:0.0:0.0	.	610;580	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	R	610;580	ENSP00000262843:K610R;ENSP00000413976:K580R	ENSP00000262843:K610R	K	+	2	0	MID2	107056580	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.798000	0.91888	1.775000	0.52247	0.417000	0.27973	AAA		0.398	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		36	50	0	0	0	1	0	36	50					G	107169924	A	G	107169924	3	3	48	1	0	0	0	0	1	0	0	0	9587	14	1	4	1867	4	MID2	23	107169924	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	151482	107169924	48100636	4598	9066										
TEX13B	56156	broad.mit.edu	37	chrX	107224489	107224489	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgtggacccaagcccagaGaagacagacatggctgtttg	12	10	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107224489G>T	ENST00000302917.1	-	3	852	c.760C>A	c.(760-762)Ctc>Atc	p.L254I		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	254										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CAAGCCCAGAGAAGACAGACA	0.542																																						ENST00000302917.1																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(760-762)Ctc>Atc		testis expressed 13B							172	145	154					X																	107224489		2199	4300	6499	SO:0001583	missense	0							g.chrX:107224489G>T	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.760C>A	X.37:g.107224489G>T	ENSP00000303777:p.Leu254Ile		Somatic					p.L254I	NM_031273.2	NP_112563.1	WXS	Illumina GAIIx	Phase_I	Q9BXU2	TX13B_HUMAN			3	852	-			254					Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	c.760C>A	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	G	9.003	0.980533	0.18812	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.61	-0.308	0.12773	.	.	.	.	.	T	0.11281	0.0275	N	0.08118	0	0.09310	N	1	P	0.40180	0.705	B	0.34346	0.18	T	0.12863	-1.0531	8	0.40728	T	0.16	.	2.3087	0.04181	0.1142:0.3555:0.3457:0.1846	.	254	Q9BXU2	TX13B_HUMAN	I	254	.	ENSP00000303777:L254I	L	-	1	0	TEX13B	107111145	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	-0.027000	0.12371	-0.208000	0.10171	-1.092000	0.02172	CTC		0.542	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			11	226	1	0	0.000978159	1	0.00102903	11	226					T	107224489	G	T	107224489	3	4	48	1	0	0	0	0	1	0	0	0	15792	942	33	2	182	2	TEX13B	23	107224489	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	54565	107224489	48046071	4599	9067										
PSMD10	5716	broad.mit.edu	37	chrX	107331316	107331316	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagaagccgcaatatgaagaGgagaccaacctgcctataaa	9	10	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107331316G>T	ENST00000217958.3	-	3	324	c.227C>A	c.(226-228)cCt>cAt	p.P76H	PSMD10_ENST00000361815.5_Missense_Mutation_p.P76H|PSMD10_ENST00000372295.1_Intron|PSMD10_ENST00000372296.1_Intron|PSMD10_ENST00000340200.5_Missense_Mutation_p.P43H	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	76	Interaction with RELA.				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)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|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 DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|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 cell growth (GO:0030307)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						AATATGAAGAGGAGACCAACC	0.453																																						ENST00000217958.3																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(226-228)cCt>cAt		proteasome (prosome, macropain) 26S subunit, non-ATPase, 10							53	57	55					X																	107331316		2203	4299	6502	SO:0001583	missense	5716				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|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 apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding	g.chrX:107331316G>T	AB009619	CCDS14536.1, CCDS14537.1	Xq22.3	2013-01-10			ENSG00000101843	ENSG00000101843		"Proteasome (prosome, macropain) subunits", "Ankyrin repeat domain containing"	9555	protein-coding gene	gene with protein product	"gankyrin"	300880				9714768	Standard	NM_002814		Approved	p28	uc004enp.2	O75832	OTTHUMG00000022177	ENST00000217958.3:c.227C>A	X.37:g.107331316G>T	ENSP00000217958:p.Pro76His		Somatic				PSMD10_ENST00000372295.1_Intron|PSMD10_ENST00000361815.5_Missense_Mutation_p.P76H|PSMD10_ENST00000340200.5_Missense_Mutation_p.P43H|PSMD10_ENST00000372296.1_Intron	p.P76H	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	WXS	Illumina GAIIx	Phase_I	O75832	PSD10_HUMAN			3	324	-			76			Interaction with RELA.		Q5U0B2|Q8IZK9	Missense_Mutation	SNP	ENST00000217958.3	37	c.227C>A	CCDS14536.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334500	0.81801	.	.	ENSG00000101843	ENST00000217958;ENST00000361815;ENST00000340200	T;T;T	0.72505	-0.57;-0.57;-0.66	4.96	4.96	0.65561	Ankyrin repeat-containing domain (3);	0.056719	0.64402	D	0.000001	D	0.88514	0.6457	H	0.94582	3.555	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.984	D	0.91760	0.5419	10	0.66056	D	0.02	-6.6316	17.374	0.87386	0.0:0.0:1.0:0.0	.	76;76	Q8IZK9;O75832	.;PSD10_HUMAN	H	76;76;43	ENSP00000217958:P76H;ENSP00000354906:P76H;ENSP00000345963:P43H	ENSP00000217958:P76H	P	-	2	0	PSMD10	107217972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.263000	0.95617	2.285000	0.76669	0.544000	0.68410	CCT		0.453	PSMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057868.1	NM_170750		7	104	1	0	8.12818e-05	1	8.79784e-05	7	104					T	107331316	G	T	107331316	3	4	48	1	0	0	0	0	1	0	0	0	12705	1000	35	5	465	5	PSMD10	23	107331316	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	106827	107331316	47939244	4600	9068										
COL4A6	1288	broad.mit.edu	37	chrX	107420147	107420147	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcagtcctactaggcctggAtttccaggaaggccttttag	10	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107420147A>G	ENST00000372216.4	-	28	2713	c.2613T>C	c.(2611-2613)aaT>aaC	p.N871N	COL4A6_ENST00000334504.7_Silent_p.N870N|COL4A6_ENST00000394872.2_Silent_p.N871N|COL4A6_ENST00000538570.1_Silent_p.N870N|COL4A6_ENST00000545689.1_Silent_p.N870N	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	871	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTAGGCCTGGATTTCCAGGAA	0.527									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(2611-2613)aaT>aaC		collagen, type IV, alpha 6							134	134	134					X																	107420147		2203	4300	6503	SO:0001819	synonymous_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107420147A>G	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2613T>C	X.37:g.107420147A>G			Somatic				COL4A6_ENST00000545689.1_Silent_p.N870N|COL4A6_ENST00000372216.4_Silent_p.N871N|COL4A6_ENST00000538570.1_Silent_p.N870N|COL4A6_ENST00000334504.7_Silent_p.N870N	p.N871N			WXS	Illumina GAIIx	Phase_I	Q14031	CO4A6_HUMAN			28	2844	-			871			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.2613T>C	CCDS14541.1																																																																																				0.527	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			62	104	0	0	0	1	0	62	104					G	107420147	A	G	107420147	2	3	48	1	0	0	0	0	0	0	0	1	3697	330	12	4		4	COL4A6	23	107420147	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	88831	107420147	47850413	4601	9069										
COL4A5	1287	broad.mit.edu	37	chrX	107863490	107863490	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgatattgtattaactaggTttacatggaataccaggaga	9	4	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107863490T>C	ENST00000361603.2	+	31	2755	c.2511T>C	c.(2509-2511)ggT>ggC	p.G837G	COL4A5_ENST00000328300.6_Splice_Site_p.G837G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	837	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATTAACTAGGTTTACATGGAA	0.423									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.e31-1		collagen, type IV, alpha 5							44	49	47					X																	107863490		2203	4300	6503	SO:0001630	splice_region_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107863490T>C	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.2510-1T>C	X.37:g.107863490T>C			Somatic				COL4A5_ENST00000361603.2_Splice_Site_p.G837_splice	p.G837_splice	NM_033380.2	NP_203699.1	WXS	Illumina GAIIx	Phase_I	P29400	CO4A5_HUMAN			31	2755	+			837			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Splice_Site	SNP	ENST00000361603.2	37	c.2509_splice	CCDS14543.1																																																																																				0.423	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		Silent	23	50	0	0	0	1	0	23	50					C	107863490	T	C	107863490	5	2	48	1	0	0	0	0	0	0	1	0	3696	1739	60	4	2633	4	COL4A5	23	107863490	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	443343	107863490	47407070	4602	9070										
COL4A5	1287	broad.mit.edu	37	chrX	107869523	107869523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gattacctggacagaaaggcGacaaaggtgatcctggtatt	12	7	0	2	rs377337832		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107869523G>A	ENST00000361603.2	+	36	3434	c.3190G>A	c.(3190-3192)Gac>Aac	p.D1064N	COL4A5_ENST00000328300.6_Missense_Mutation_p.D1064N	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1064	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACAGAAAGGCGACAAAGGTGA	0.488									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(3190-3192)Gac>Aac		collagen, type IV, alpha 5		G	ASN/ASP,ASN/ASP	0,3835		0,0,0,1632,571	117	102	107		3190,3190	4.9	0.9	X		107	1,6727		0,0,1,2428,1871	no	missense,missense	COL4A5	NM_000495.3,NM_033380.1	23,23	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	possibly-damaging,possibly-damaging	1064/1686,1064/1692	107869523	1,10562	2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107869523G>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3190G>A	X.37:g.107869523G>A	ENSP00000354505:p.Asp1064Asn		Somatic				COL4A5_ENST00000361603.2_Missense_Mutation_p.D1064N	p.D1064N	NM_033380.2	NP_203699.1	WXS	Illumina GAIIx	Phase_I	P29400	CO4A5_HUMAN			36	3434	+			1064			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.3190G>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685777	0.68157	0.0	1.49E-4	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.96136	-3.92;-3.92	5.76	4.88	0.63580	.	0.643100	0.16467	N	0.213133	D	0.93906	0.8050	M	0.73962	2.25	0.34757	D	0.732399	P;B;P	0.36944	0.574;0.271;0.574	B;B;B	0.31245	0.126;0.086;0.126	D	0.94622	0.7814	10	0.42905	T	0.14	.	13.2905	0.60269	0.0787:0.0:0.9213:0.0	.	1064;672;1064	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	N	1064	ENSP00000331902:D1064N;ENSP00000354505:D1064N	ENSP00000331902:D1064N	D	+	1	0	COL4A5	107756179	1.000000	0.71417	0.938000	0.37757	0.956000	0.61745	4.866000	0.63005	1.160000	0.42584	0.600000	0.82982	GAC		0.488	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			22	57	0	0	0	1	0	22	57					A	107869523	G	A	107869523	3	1	48	1	0	0	0	0	1	0	0	0	3696	1058	37	1	3332	1	COL4A5	23	107869523	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	6033	107869523	47401037	4603	9071										
COL4A5	1287	broad.mit.edu	37	chrX	107936062	107936062	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtttgcaactttgcttcaaGaaatgactattcttactggc	7	8	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107936062G>T	ENST00000361603.2	+	48	4839	c.4595G>T	c.(4594-4596)aGa>aTa	p.R1532I	COL4A5_ENST00000328300.6_Missense_Mutation_p.R1538I	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1532	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTGCTTCAAGAAATGACTAT	0.483									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(4612-4614)aGa>aTa		collagen, type IV, alpha 5							123	98	106					X																	107936062		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107936062G>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4595G>T	X.37:g.107936062G>T	ENSP00000354505:p.Arg1532Ile		Somatic				COL4A5_ENST00000361603.2_Missense_Mutation_p.R1532I	p.R1538I	NM_033380.2	NP_203699.1	WXS	Illumina GAIIx	Phase_I	P29400	CO4A5_HUMAN			50	4857	+			1532		W -> S (in APSX; adult type).	Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4613G>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	32	5.134333	0.94517	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186;ENST00000504541	D;D;D	0.87966	-2.32;-2.32;-2.32	5.73	5.73	0.89815	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.95990	0.8694	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97166	0.9841	10	0.87932	D	0	.	18.9275	0.92550	0.0:0.0:1.0:0.0	.	1535;1532	E7EVY4;P29400	.;CO4A5_HUMAN	I	1538;1532;1538;4	ENSP00000331902:R1538I;ENSP00000354505:R1532I;ENSP00000424845:R4I	ENSP00000331902:R1538I	R	+	2	0	COL4A5	107822718	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.418000	0.82041	0.538000	0.68166	AGA		0.483	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			32	50	1	0	9.65021e-13	1	1.22324e-12	32	50					T	107936062	G	T	107936062	3	4	48	1	0	0	0	0	1	0	0	0	3696	942	33	2	4796	2	COL4A5	23	107936062	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	66539	107936062	47334498	4604	9072										
ACSL4	2182	broad.mit.edu	37	chrX	108902619	108902619	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcgaatttctttcagtatttCagcttccatagcaggattat	6	8	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:108902619C>A	ENST00000469796.2	-	15	2338	c.1942G>T	c.(1942-1944)Gaa>Taa	p.E648*	ACSL4_ENST00000348502.6_Nonsense_Mutation_p.E607*|ACSL4_ENST00000340800.2_Nonsense_Mutation_p.E648*			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	648					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	TTCAGTATTTCAGCTTCCATA	0.383																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(1942-1944)Gaa>Taa		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						156	143	148					X																	108902619		2203	4300	6503	SO:0001587	stop_gained	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108902619C>A	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1942G>T	X.37:g.108902619C>A	ENSP00000419171:p.Glu648*		Somatic				ACSL4_ENST00000348502.6_Nonsense_Mutation_p.E607*|ACSL4_ENST00000469796.2_Nonsense_Mutation_p.E648*	p.E648*	NM_022977.2	NP_075266.1	WXS	Illumina GAIIx	Phase_I	O60488	ACSL4_HUMAN			16	2446	-			648					D3DUY2|O60848|O60849|Q5JWV8	Nonsense_Mutation	SNP	ENST00000469796.2	37	c.1942G>T	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	C	46	12.354814	0.99660	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-21.1423	18.1689	0.89737	0.0:1.0:0.0:0.0	.	.	.	.	X	607;648;648	.	ENSP00000339787:E648X	E	-	1	0	ACSL4	108789275	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.957000	0.70323	2.314000	0.78098	0.523000	0.50628	GAA		0.383	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		27	71	1	0	6.32553e-13	1	8.04352e-13	27	71					A	108902619	C	A	108902619	4	1	48	1	0	0	0	0	0	1	0	0	179	835	29	2	201	2	ACSL4	23	108902619	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	966557	108902619	46367941	4605	9073										
ACSL4	2182	broad.mit.edu	37	chrX	108926385	108926385	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttcttaaaaacttttccatTtggctgcatttcattttctt	3	9	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:108926385T>G	ENST00000469796.2	-	3	727	c.331A>C	c.(331-333)Aat>Cat	p.N111H	ACSL4_ENST00000348502.6_Missense_Mutation_p.N70H|ACSL4_ENST00000340800.2_Missense_Mutation_p.N111H			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	111					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	ACTTTTCCATTTGGCTGCATT	0.348																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(331-333)Aat>Cat		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						80	72	75					X																	108926385		2203	4299	6502	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108926385T>G	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.331A>C	X.37:g.108926385T>G	ENSP00000419171:p.Asn111His		Somatic				ACSL4_ENST00000348502.6_Missense_Mutation_p.N70H|ACSL4_ENST00000469796.2_Missense_Mutation_p.N111H	p.N111H	NM_022977.2	NP_075266.1	WXS	Illumina GAIIx	Phase_I	O60488	ACSL4_HUMAN			4	835	-			111					D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.331A>C	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.950491	0.73787	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800;ENST00000505855;ENST00000502391;ENST00000508092;ENST00000504980	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.72	5.72	0.89469	.	0.083079	0.85682	D	0.000000	T	0.63745	0.2537	M	0.77616	2.38	0.80722	D	1	D	0.67145	0.996	D	0.63033	0.91	T	0.69064	-0.5244	10	0.87932	D	0	-27.3968	15.0119	0.71555	0.0:0.0:0.0:1.0	.	111	O60488	ACSL4_HUMAN	H	70;111;111;70;111;111;111	ENSP00000262835:N70H;ENSP00000419171:N111H;ENSP00000339787:N111H;ENSP00000424808:N70H	ENSP00000339787:N111H	N	-	1	0	ACSL4	108813041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.975000	0.70475	1.928000	0.55862	0.425000	0.28330	AAT		0.348	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		10	53	0	0	0	1	0	10	53					G	108926385	T	G	108926385	3	3	48	1	0	0	0	0	1	0	0	0	179	1841	64	4	1860	4	ACSL4	23	108926385	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	23766	108926385	46344175	4606	9074										
TMEM164	84187	broad.mit.edu	37	chrX	109414704	109414704	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggctcttctctcaactggcCtcatgttcttttatcacttc	6	13	6	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:109414704C>A	ENST00000372073.1	+	6	979	c.643C>A	c.(643-645)Ctc>Atc	p.L215I	TMEM164_ENST00000372068.2_Missense_Mutation_p.L215I|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000288381.4_Missense_Mutation_p.L176I|TMEM164_ENST00000372072.3_Missense_Mutation_p.L66I			Q5U3C3	TM164_HUMAN	transmembrane protein 164	215						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						CTCAACTGGCCTCATGTTCTT	0.507																																						ENST00000372073.1																			0				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						c.(643-645)Ctc>Atc		transmembrane protein 164							367	317	334					X																	109414704		2203	4300	6503	SO:0001583	missense	84187					integral to membrane		g.chrX:109414704C>A	AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.643C>A	X.37:g.109414704C>A	ENSP00000361143:p.Leu215Ile		Somatic				TMEM164_ENST00000372072.3_Missense_Mutation_p.L66I|TMEM164_ENST00000372068.2_Missense_Mutation_p.L215I|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000288381.4_Missense_Mutation_p.L176I	p.L215I			WXS	Illumina GAIIx	Phase_I	Q5U3C3	TM164_HUMAN			6	979	+			215					B3KSQ8|F5H2P2	Missense_Mutation	SNP	ENST00000372073.1	37	c.643C>A	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570883	0.28003	.	.	ENSG00000157600	ENST00000372072;ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.3	5.3	0.74995	.	0.232492	0.44097	D	0.000485	T	0.31918	0.0812	N	0.11341	0.13	0.43793	D	0.996337	B;B	0.12630	0.006;0.006	B;B	0.12156	0.007;0.007	T	0.14924	-1.0455	10	0.20519	T	0.43	-10.8704	11.8379	0.52336	0.0:0.9065:0.0:0.0935	.	176;215	Q9H617;Q5U3C3	.;TM164_HUMAN	I	66;215;215;176;176	ENSP00000384075:L66I;ENSP00000361143:L215I;ENSP00000361138:L215I;ENSP00000288381:L176I	ENSP00000288381:L176I	L	+	1	0	TMEM164	109301360	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.837000	0.48191	2.207000	0.71202	0.523000	0.50628	CTC		0.507	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227		34	371	1	0	1.62565e-12	1	2.05093e-12	34	371					A	109414704	C	A	109414704	3	1	48	1	0	0	0	0	1	0	0	0	16094	681	24	5	661	5	TMEM164	23	109414704	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	488319	109414704	45855856	4607	9075										
RGAG1	57529	broad.mit.edu	37	chrX	109694334	109694334	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtagcaccagattctgcagaGatatcaccattggcaatgcc	9	11	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:109694334G>A	ENST00000465301.2	+	3	735	c.489G>A	c.(487-489)gaG>gaA	p.E163E	RGAG1_ENST00000540313.1_Silent_p.E163E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	163										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATTCTGCAGAGATATCACCAT	0.478																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(487-489)gaG>gaA		retrotransposon gag domain containing 1							112	92	99					X																	109694334		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109694334G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.489G>A	X.37:g.109694334G>A			Somatic				RGAG1_ENST00000540313.1_Silent_p.E163E	p.E163E	NM_020769.2	NP_065820.1	WXS	Illumina GAIIx	Phase_I	Q8NET4	RGAG1_HUMAN			3	735	+			163					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.489G>A	CCDS14552.1																																																																																				0.478	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		9	87	0	0	0	1	0	9	87					A	109694334	G	A	109694334	2	1	48	1	0	0	0	0	0	0	0	1	13289	933	33	3		3	RGAG1	23	109694334	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	279630	109694334	45576226	4608	9076										
RGAG1	57529	broad.mit.edu	37	chrX	109695280	109695280	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttctggagcaatgcccacaGgctctatgaaagccgtggca	11	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:109695280G>T	ENST00000465301.2	+	3	1681	c.1435G>T	c.(1435-1437)Ggc>Tgc	p.G479C	RGAG1_ENST00000540313.1_Missense_Mutation_p.G479C	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	479										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AATGCCCACAGGCTCTATGAA	0.507																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1435-1437)Ggc>Tgc		retrotransposon gag domain containing 1							131	119	123					X																	109695280		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109695280G>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1435G>T	X.37:g.109695280G>T	ENSP00000419786:p.Gly479Cys		Somatic				RGAG1_ENST00000540313.1_Missense_Mutation_p.G479C	p.G479C	NM_020769.2	NP_065820.1	WXS	Illumina GAIIx	Phase_I	Q8NET4	RGAG1_HUMAN			3	1681	+			479					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.1435G>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907499	0.33721	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.74315	-0.83;-0.83	3.81	1.05	0.20165	.	0.478255	0.15658	N	0.251026	T	0.75496	0.3857	L	0.39898	1.24	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.61912	-0.6965	9	.	.	.	-0.6677	5.0136	0.14324	0.2171:0.1729:0.61:0.0	.	479	Q8NET4	RGAG1_HUMAN	C	479	ENSP00000419786:G479C;ENSP00000441452:G479C	.	G	+	1	0	RGAG1	109581936	0.133000	0.22466	0.002000	0.10522	0.005000	0.04900	1.263000	0.33004	0.086000	0.17137	-0.279000	0.10071	GGC		0.507	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		15	311	1	0	2.61681e-11	1	3.25035e-11	15	311					T	109695280	G	T	109695280	3	4	48	1	0	0	0	0	1	0	0	0	13289	1000	35	5	1437	5	RGAG1	23	109695280	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	946	109695280	45575280	4609	9077										
CAPN6	827	broad.mit.edu	37	chrX	110496278	110496278	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gagcattccaaaactcattcAtggaagtggagaaagagaag	11	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:110496278A>G	ENST00000324068.1	-	4	631	c.464T>C	c.(463-465)aTg>aCg	p.M155T	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	155	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						AAACTCATTCATGGAAGTGGA	0.433																																						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.(463-465)aTg>aCg		calpain 6							128	108	115					X																	110496278		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:110496278A>G	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.464T>C	X.37:g.110496278A>G	ENSP00000317214:p.Met155Thr		Somatic				CAPN6_ENST00000541758.1_5'UTR	p.M155T	NM_014289.3	NP_055104.2	WXS	Illumina GAIIx	Phase_I	Q9Y6Q1	CAN6_HUMAN			4	631	-			155			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.464T>C	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	A	7.299	0.612563	0.14066	.	.	ENSG00000077274	ENST00000324068	T	0.39229	1.09	5.21	5.21	0.72293	Peptidase C2, calpain, catalytic domain (3);	0.198358	0.52532	D	0.000075	T	0.13157	0.0319	N	0.01048	-1.04	0.80722	D	1	B	0.15141	0.012	B	0.06405	0.002	T	0.12656	-1.0539	10	0.21014	T	0.42	.	5.019	0.14352	0.4829:0.2442:0.0:0.2729	.	155	Q9Y6Q1	CAN6_HUMAN	T	155	ENSP00000317214:M155T	ENSP00000317214:M155T	M	-	2	0	CAPN6	110382934	0.938000	0.31826	1.000000	0.80357	0.981000	0.71138	0.709000	0.25734	1.930000	0.55929	0.486000	0.48141	ATG		0.433	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			28	45	0	0	0	1	0	28	45					G	110496278	A	G	110496278	3	3	48	1	0	0	0	0	1	0	0	0	2632	217	8	4	1501	4	CAPN6	23	110496278	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	800998	110496278	44774282	4610	9078										
ALG13	79868	broad.mit.edu	37	chrX	110978304	110978304	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcaggacagaaagtcatgttCtatgtctcctcaggacacag	9	10	5	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:110978304C>A	ENST00000394780.3	+	22	2495	c.2483C>A	c.(2482-2484)tCt>tAt	p.S828Y	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.S724Y	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	828					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						AAGTCATGTTCTATGTCTCCT	0.323																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(2482-2484)tCt>tAt		ALG13, UDP-N-acetylglucosaminyltransferase subunit							115	93	100					X																	110978304		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110978304C>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2483C>A	X.37:g.110978304C>A	ENSP00000378260:p.Ser828Tyr		Somatic				ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.S724Y	p.S828Y	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	WXS	Illumina GAIIx	Phase_I	Q9NP73	ALG13_HUMAN			22	2495	+			828					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.2483C>A	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582485	0.28180	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.37752	1.18;2.05	4.99	4.1	0.47936	.	0.478922	0.22113	N	0.064449	T	0.46580	0.1400	L	0.43152	1.355	0.09310	N	1	D;P;D	0.71674	0.958;0.93;0.998	P;B;D	0.67548	0.568;0.365;0.952	T	0.25222	-1.0138	10	0.52906	T	0.07	-1.3156	8.5314	0.33337	0.0:0.8137:0.0:0.1863	.	750;828;724	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	Y	724;828;461	ENSP00000251943:S724Y;ENSP00000378260:S828Y	ENSP00000251943:S724Y	S	+	2	0	ALG13	110864960	0.004000	0.15560	0.397000	0.26308	0.251000	0.25915	0.930000	0.28858	1.016000	0.39470	0.600000	0.82982	TCT		0.323	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		15	28	1	0	1.15088e-07	1	1.32965e-07	15	28					A	110978304	C	A	110978304	3	1	48	1	0	0	0	0	1	0	0	0	515	913	32	2	2711	2	ALG13	23	110978304	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	482026	110978304	44292256	4611	9079										
ALG13	79868	broad.mit.edu	37	chrX	111003114	111003114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgttcccccctggcatccaGttggtacagcatatggtggt	12	11	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111003114G>T	ENST00000394780.3	+	27	3313	c.3301G>T	c.(3301-3303)Gtt>Ttt	p.V1101F	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.V918F	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1101					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CTGGCATCCAGTTGGTACAGC	0.498																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(3301-3303)Gtt>Ttt		ALG13, UDP-N-acetylglucosaminyltransferase subunit							110	84	92					X																	111003114		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:111003114G>T	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.3301G>T	X.37:g.111003114G>T	ENSP00000378260:p.Val1101Phe		Somatic				ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.V918F	p.V1101F	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	WXS	Illumina GAIIx	Phase_I	Q9NP73	ALG13_HUMAN			27	3313	+			1101					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.3301G>T	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311039	0.40895	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.57273	1.44;0.41	5.81	2.46	0.29980	.	1.000500	0.08066	N	0.999046	T	0.52075	0.1712	L	0.50333	1.59	0.09310	N	1	P;P;P	0.47253	0.834;0.61;0.892	B;B;P	0.47573	0.316;0.168;0.55	T	0.40979	-0.9534	10	0.66056	D	0.02	-4.2756	5.7383	0.18079	0.3488:0.0:0.5178:0.1333	.	1023;1101;918	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	F	918;1101;655	ENSP00000251943:V918F;ENSP00000378260:V1101F	ENSP00000251943:V918F	V	+	1	0	ALG13	110889770	0.929000	0.31497	0.978000	0.43139	0.683000	0.39861	0.830000	0.27462	0.521000	0.28445	-0.208000	0.12717	GTT		0.498	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		17	26	1	0	2.48551e-13	1	3.17925e-13	17	26					T	111003114	G	T	111003114	3	4	48	1	0	0	0	0	1	0	0	0	515	1029	36	5	3549	5	ALG13	23	111003114	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	24810	111003114	44267446	4612	9080										
TRPC5	7224	broad.mit.edu	37	chrX	111019750	111019750	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gccctggacttcacctaattCtacctcactgaggttaattt	6	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111019750C>A	ENST00000262839.2	-	11	3631	c.2713G>T	c.(2713-2715)Gaa>Taa	p.E905*		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	905					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						TCACCTAATTCTACCTCACTG	0.483																																						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.(2713-2715)Gaa>Taa		transient receptor potential cation channel, subfamily C, member 5							89	71	77					X																	111019750		2203	4300	6503	SO:0001587	stop_gained	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111019750C>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.2713G>T	X.37:g.111019750C>A	ENSP00000262839:p.Glu905*		Somatic					p.E905*	NM_012471.2	NP_036603.1	WXS	Illumina GAIIx	Phase_I	Q9UL62	TRPC5_HUMAN			11	3631	-			905					B2RP53|O75233|Q5JXY8|Q9Y514	Nonsense_Mutation	SNP	ENST00000262839.2	37	c.2713G>T	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	C	47	13.078650	0.99718	.	.	ENSG00000072315	ENST00000262839	.	.	.	5.58	5.58	0.84498	.	0.078283	0.48767	D	0.000173	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-10.4995	12.0687	0.53603	0.0:0.9194:0.0:0.0806	.	.	.	.	X	905	.	ENSP00000262839:E905X	E	-	1	0	TRPC5	110906406	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.358000	0.59442	2.340000	0.79590	0.513000	0.50165	GAA		0.483	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		6	51	1	0	3.59834e-05	1	3.93264e-05	6	51					A	111019750	C	A	111019750	4	1	48	1	0	0	0	0	0	1	0	0	16597	922	32	2	212	2	TRPC5	23	111019750	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	16636	111019750	44250810	4613	9081										
TRPC5	7224	broad.mit.edu	37	chrX	111019917	111019917	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatgaccattaaatttggagAataggagacccagtttcttg	9	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111019917A>T	ENST00000262839.2	-	11	3464	c.2546T>A	c.(2545-2547)tTc>tAc	p.F849Y		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	849					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						AAATTTGGAGAATAGGAGACC	0.458																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2545-2547)tTc>tAc		transient receptor potential cation channel, subfamily C, member 5							126	110	116					X																	111019917		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:111019917A>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.2546T>A	X.37:g.111019917A>T	ENSP00000262839:p.Phe849Tyr		Somatic					p.F849Y	NM_012471.2	NP_036603.1	WXS	Illumina GAIIx	Phase_I	Q9UL62	TRPC5_HUMAN			11	3464	-			849					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.2546T>A	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	a	14.87	2.664529	0.47572	.	.	ENSG00000072315	ENST00000262839	T	0.71461	-0.57	5.7	5.7	0.88788	.	0.144155	0.44688	D	0.000422	T	0.67813	0.2933	N	0.19112	0.55	0.52099	D	0.99994	P	0.49447	0.924	P	0.57776	0.827	T	0.63296	-0.6669	10	0.08837	T	0.75	-7.2182	14.9758	0.71269	1.0:0.0:0.0:0.0	.	849	Q9UL62	TRPC5_HUMAN	Y	849	ENSP00000262839:F849Y	ENSP00000262839:F849Y	F	-	2	0	TRPC5	110906573	1.000000	0.71417	0.987000	0.45799	0.954000	0.61252	7.113000	0.77095	1.919000	0.55581	0.483000	0.47432	TTC		0.458	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		47	81	0	0	0	1	0	47	81					T	111019917	A	T	111019917	3	4	48	1	0	0	0	0	1	0	0	0	16597	246	9	4	379	4	TRPC5	23	111019917	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	167	111019917	44250643	4614	9082										
TRPC5	7224	broad.mit.edu	37	chrX	111078180	111078180	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gataggagttgttcatcataGcaatcagcatgttcagcagc	10	8	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111078180G>T	ENST00000262839.2	-	7	2783	c.1865C>A	c.(1864-1866)gCt>gAt	p.A622D		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	622					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						GTTCATCATAGCAATCAGCAT	0.448																																						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.(1864-1866)gCt>gAt		transient receptor potential cation channel, subfamily C, member 5							271	217	235					X																	111078180		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:111078180G>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.1865C>A	X.37:g.111078180G>T	ENSP00000262839:p.Ala622Asp		Somatic					p.A622D	NM_012471.2	NP_036603.1	WXS	Illumina GAIIx	Phase_I	Q9UL62	TRPC5_HUMAN			7	2783	-			622					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1865C>A	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673864	0.88445	.	.	ENSG00000072315	ENST00000262839	D	0.99270	-5.66	5.67	4.8	0.61643	Ion transport (1);	0.049197	0.85682	D	0.000000	D	0.99533	0.9833	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98036	1.0379	10	0.87932	D	0	-11.586	15.6406	0.76997	0.0:0.1341:0.8659:0.0	.	623;622	Q59G51;Q9UL62	.;TRPC5_HUMAN	D	622	ENSP00000262839:A622D	ENSP00000262839:A622D	A	-	2	0	TRPC5	110964836	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.810000	0.99221	1.125000	0.41998	0.544000	0.68410	GCT		0.448	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		85	163	1	0	7.14593e-30	1	1.01984e-29	85	163					T	111078180	G	T	111078180	3	4	48	1	0	0	0	0	1	0	0	0	16597	971	34	5	1076	5	TRPC5	23	111078180	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	58263	111078180	44192380	4615	9083										
LHFPL1	340596	broad.mit.edu	37	chrX	111874817	111874817	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacagtaataggcccagccaAgccgacaggtacctgtgaga	11	12	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111874817A>C	ENST00000371968.3	-	4	733	c.494T>G	c.(493-495)cTt>cGt	p.L165R	LHFPL1_ENST00000478229.1_5'UTR|LHFPL1_ENST00000536453.1_Missense_Mutation_p.L132R	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	165						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GGCCCAGCCAAGCCGACAGGT	0.473																																						ENST00000371968.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						c.(493-495)cTt>cGt		lipoma HMGIC fusion partner-like 1							38	37	38					X																	111874817		2203	4299	6502	SO:0001583	missense	340596					integral to membrane		g.chrX:111874817A>C	AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.494T>G	X.37:g.111874817A>C	ENSP00000361036:p.Leu165Arg		Somatic				LHFPL1_ENST00000478229.1_5'UTR|LHFPL1_ENST00000536453.1_Missense_Mutation_p.L132R	p.L165R	NM_178175.3	NP_835469.1	WXS	Illumina GAIIx	Phase_I	Q86WI0	LHPL1_HUMAN			4	733	-			165					A8K1N1|Q496M9|Q496N0|Q6UXU2	Missense_Mutation	SNP	ENST00000371968.3	37	c.494T>G	CCDS14562.1	.	.	.	.	.	.	.	.	.	.	a	15.60	2.882036	0.51908	.	.	ENSG00000182508	ENST00000371968;ENST00000536453	T;T	0.76709	-1.04;0.48	5.19	4.03	0.46877	.	0.115998	0.64402	D	0.000017	D	0.84566	0.5500	M	0.70595	2.14	0.43907	D	0.996548	D;D	0.67145	0.99;0.996	P;D	0.69824	0.899;0.966	D	0.83935	0.0308	10	0.72032	D	0.01	-9.6649	8.1776	0.31292	0.9046:0.0:0.0954:0.0	.	132;165	Q86WI0-2;Q86WI0	.;LHPL1_HUMAN	R	165;132	ENSP00000361036:L165R;ENSP00000444573:L132R	ENSP00000361036:L165R	L	-	2	0	LHFPL1	111761473	1.000000	0.71417	0.948000	0.38648	0.983000	0.72400	8.073000	0.89498	0.790000	0.33803	0.483000	0.47432	CTT		0.473	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1	NM_178175		17	49	0	0	0	1	0	17	49					C	111874817	A	C	111874817	3	2	48	1	0	0	0	0	1	0	0	0	8773	72	3	4	172	4	LHFPL1	23	111874817	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	796637	111874817	43395743	4616	9084										
AMOT	154796	broad.mit.edu	37	chrX	112022529	112022529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcagcagctgaggcaacagaGgcagcagctggaatctgacc	14	11	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:112022529G>A	ENST00000524145.1	-	11	2927	c.2853C>T	c.(2851-2853)gcC>gcT	p.A951A	AMOT_ENST00000304758.1_Silent_p.A542A|AMOT_ENST00000371962.1_Silent_p.A719A|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371959.3_Silent_p.A951A			Q4VCS5	AMOT_HUMAN	angiomotin	951					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						aggcaacagaggcagcagctg	0.637																																						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.(2851-2853)gcC>gcT		angiomotin							16	13	14					X																	112022529		2128	4173	6301	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112022529G>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2853C>T	X.37:g.112022529G>A			Somatic				AMOT_ENST00000371962.1_Silent_p.A719A|AMOT_ENST00000524145.1_Silent_p.A951A|AMOT_ENST00000304758.1_Silent_p.A542A	p.A951A	NM_001113490.1	NP_001106962.1	WXS	Illumina GAIIx	Phase_I	Q4VCS5	AMOT_HUMAN			10	2852	-			951					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.2853C>T	CCDS48154.1																																																																																				0.637	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		3	12	0	0	0	1	0	3	12					A	112022529	G	A	112022529	2	1	48	1	0	0	0	0	0	0	0	1	582	987	35	3		3	AMOT	23	112022529	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	147712	112022529	43248031	4617	9085										
SLC6A14	11254	broad.mit.edu	37	chrX	115574871	115574871	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagatcatccaaatgaataAaagctgggtagacatcaaca	8	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:115574871A>C	ENST00000371900.4	+	5	657	c.569A>C	c.(568-570)aAa>aCa	p.K190T		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	190					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)	CAAATGAATAAAAGCTGGGTA	0.363																																						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.(568-570)aAa>aCa		solute carrier family 6 (amino acid transporter), member 14	L-Proline(DB00172)						92	81	85					X																	115574871		2203	4300	6503	SO:0001583	missense	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115574871A>C	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.569A>C	X.37:g.115574871A>C	ENSP00000360967:p.Lys190Thr		Somatic					p.K190T	NM_007231.3	NP_009162.1	WXS	Illumina GAIIx	Phase_I	Q9UN76	S6A14_HUMAN			5	657	+			190					Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	c.569A>C	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	A	5.445	0.267268	0.10294	.	.	ENSG00000087916	ENST00000371900	T	0.73575	-0.76	5.63	1.89	0.25635	.	1.813730	0.02446	N	0.085119	T	0.54271	0.1848	N	0.11064	0.09	0.21697	N	0.999586	B	0.13594	0.008	B	0.17979	0.02	T	0.38845	-0.9642	10	0.16896	T	0.51	.	3.272	0.06886	0.5867:0.0:0.2057:0.2076	.	190	Q9UN76	S6A14_HUMAN	T	190	ENSP00000360967:K190T	ENSP00000360967:K190T	K	+	2	0	SLC6A14	115488899	0.998000	0.40836	0.982000	0.44146	0.914000	0.54420	0.546000	0.23284	0.033000	0.15463	0.486000	0.48141	AAA		0.363	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			7	28	0	0	0	1	0	7	28					C	115574871	A	C	115574871	3	2	48	1	0	0	0	0	1	0	0	0	14692	14	1	4	587	4	SLC6A14	23	115574871	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	3552342	115574871	39695689	4618	9086										
SLC6A14	11254	broad.mit.edu	37	chrX	115590115	115590115	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttagtggcagcagaaaaccGgaatgagatctcattgaaaa	11	6	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:115590115G>T	ENST00000371900.4	+	14	2011	c.1923G>T	c.(1921-1923)ccG>ccT	p.P641P		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	641					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)	GCAGAAAACCGGAATGAGATC	0.343																																						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.(1921-1923)ccG>ccT		solute carrier family 6 (amino acid transporter), member 14	L-Proline(DB00172)						97	93	94					X																	115590115		2203	4299	6502	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:115590115G>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.1923G>T	X.37:g.115590115G>T			Somatic					p.P641P	NM_007231.3	NP_009162.1	WXS	Illumina GAIIx	Phase_I	Q9UN76	S6A14_HUMAN			14	2011	+			641					Q5H942	Silent	SNP	ENST00000371900.4	37	c.1923G>T	CCDS14570.1																																																																																				0.343	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			35	67	1	0	4.34311e-12	1	5.44389e-12	35	67					T	115590115	G	T	115590115	2	4	48	1	0	0	0	0	0	0	0	1	14692	1103	39	5		5	SLC6A14	23	115590115	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	15244	115590115	39680445	4619	9087										
KLHL13	90293	broad.mit.edu	37	chrX	117043459	117043459	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtccgccaaccacatagaGaaaatttccaatgacggcga	8	12	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:117043459G>T	ENST00000262820.3	-	5	2080	c.1171C>A	c.(1171-1173)Ctc>Atc	p.L391I	KLHL13_ENST00000371882.1_Missense_Mutation_p.L340I|KLHL13_ENST00000539496.1_Missense_Mutation_p.L394I|KLHL13_ENST00000545703.1_Missense_Mutation_p.L349I|KLHL13_ENST00000540167.1_Missense_Mutation_p.L375I|KLHL13_ENST00000541812.1_Missense_Mutation_p.L375I|KLHL13_ENST00000469946.1_Missense_Mutation_p.L340I|KLHL13_ENST00000371878.1_Missense_Mutation_p.L340I|KLHL13_ENST00000371876.1_Missense_Mutation_p.L340I	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	391					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACCACATAGAGAAAATTTCCA	0.443																																						ENST00000371876.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(1018-1020)Ctc>Atc		kelch-like family member 13							104	90	94					X																	117043459		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117043459G>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.1171C>A	X.37:g.117043459G>T	ENSP00000262820:p.Leu391Ile		Somatic				KLHL13_ENST00000262820.3_Missense_Mutation_p.L391I|KLHL13_ENST00000541812.1_Missense_Mutation_p.L375I|KLHL13_ENST00000371878.1_Missense_Mutation_p.L340I|KLHL13_ENST00000539496.1_Missense_Mutation_p.L394I|KLHL13_ENST00000545703.1_Missense_Mutation_p.L349I|KLHL13_ENST00000371882.1_Missense_Mutation_p.L340I|KLHL13_ENST00000469946.1_Missense_Mutation_p.L340I|KLHL13_ENST00000540167.1_Missense_Mutation_p.L375I	p.L340I			WXS	Illumina GAIIx	Phase_I	Q9P2N7	KLH13_HUMAN			4	3439	-			391					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.1018C>A	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460326	0.84317	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.02	5.02	0.67125	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.78464	0.4287	L	0.38953	1.18	0.80722	D	1	D;D;D;D	0.89917	0.985;1.0;0.966;0.972	P;D;P;P	0.91635	0.868;0.999;0.747;0.836	T	0.79381	-0.1827	10	0.49607	T	0.09	.	17.4247	0.87524	0.0:0.0:1.0:0.0	.	375;394;385;391	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	I	340;340;340;340;375;375;394;391;349;340	ENSP00000360949:L340I;ENSP00000360943:L340I;ENSP00000360945:L340I;ENSP00000412640:L340I;ENSP00000444450:L375I;ENSP00000441029:L375I;ENSP00000443191:L394I;ENSP00000262820:L391I;ENSP00000440707:L349I;ENSP00000419803:L340I	ENSP00000262820:L391I	L	-	1	0	KLHL13	116927487	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.480000	0.81109	2.297000	0.77311	0.594000	0.82650	CTC		0.443	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		28	52	1	0	9.39395e-14	1	1.21013e-13	28	52					T	117043459	G	T	117043459	3	4	48	1	0	0	0	0	1	0	0	0	8378	942	33	2	808	2	KLHL13	23	117043459	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1453344	117043459	38227101	4620	9088										
WDR44	54521	broad.mit.edu	37	chrX	117527097	117527097	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatagtggctagtacaaagaAgcctgttccagcacgcccac	9	12	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:117527097A>C	ENST00000254029.3	+	4	1084	c.689A>C	c.(688-690)aAg>aCg	p.K230T	WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.K230T|WDR44_ENST00000371822.5_Missense_Mutation_p.K205T	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	230	Pro-rich.					endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AGTACAAAGAAGCCTGTTCCA	0.517																																						ENST00000254029.3																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(688-690)aAg>aCg		WD repeat domain 44							112	103	106					X																	117527097		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117527097A>C	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"WD repeat domain containing"	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.689A>C	X.37:g.117527097A>C	ENSP00000254029:p.Lys230Thr		Somatic				WDR44_ENST00000371822.5_Missense_Mutation_p.K205T|WDR44_ENST00000371825.3_Missense_Mutation_p.K230T|WDR44_ENST00000493448.1_3'UTR	p.K230T	NM_019045.4	NP_061918.3	WXS	Illumina GAIIx	Phase_I	Q5JSH3	WDR44_HUMAN			4	1084	+			230			Pro-rich.		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.689A>C	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.4|23.4	4.416164|4.416164	0.83449|0.83449	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371848|ENST00000371822;ENST00000254029;ENST00000371825	.|T;T;T	.|0.78816	.|-1.21;-0.6;-0.47	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81202|0.81202	0.4773|0.4773	L|L	0.34521|0.34521	1.04|1.04	0.50467|0.50467	D|D	0.999875|0.999875	.|D;D;D	.|0.76494	.|0.997;0.999;0.992	.|D;D;P	.|0.71656	.|0.956;0.974;0.864	T|T	0.79359|0.79359	-0.1836|-0.1836	5|10	.|0.29301	.|T	.|0.29	-10.3144|-10.3144	14.6525|14.6525	0.68808|0.68808	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|205;230;230	.|F8W913;Q5JSH3-2;Q5JSH3	.|.;.;WDR44_HUMAN	D|T	129|205;230;230	.|ENSP00000360887:K205T;ENSP00000254029:K230T;ENSP00000360890:K230T	.|ENSP00000254029:K230T	E|K	+|+	3|2	2|0	WDR44|WDR44	117411125|117411125	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.904000|8.904000	0.92590|0.92590	1.841000|1.841000	0.53522|0.53522	0.486000|0.486000	0.48141|0.48141	GAA|AAG		0.517	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		65	123	0	0	0	1	0	65	123					C	117527097	A	C	117527097	3	2	48	1	0	0	0	0	1	0	0	0	17311	72	3	4	703	4	WDR44	23	117527097	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	483638	117527097	37743463	4621	9089										
DOCK11	139818	broad.mit.edu	37	chrX	117817047	117817047	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatattcatccacaggaaatTtatacaagcatgcagcattg	7	8	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:117817047T>G	ENST00000276202.7	+	52	6032	c.5969T>G	c.(5968-5970)tTt>tGt	p.F1990C	DOCK11_ENST00000276204.6_Missense_Mutation_p.F1990C	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1990	DHR-2.				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						CACAGGAAATTTATACAAGCA	0.363																																						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.(5968-5970)tTt>tGt		dedicator of cytokinesis 11							104	105	105					X																	117817047		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117817047T>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.5969T>G	X.37:g.117817047T>G	ENSP00000276202:p.Phe1990Cys		Somatic				DOCK11_ENST00000276202.7_Missense_Mutation_p.F1990C	p.F1990C			WXS	Illumina GAIIx	Phase_I	Q5JSL3	DOC11_HUMAN			52	6043	+			1990			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.5969T>G	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	t	20.6	4.016341	0.75161	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.22945	1.93;1.93	5.92	5.92	0.95590	.	0.050170	0.85682	D	0.000000	T	0.63534	0.2519	H	0.95504	3.68	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.75488	-0.3300	10	0.87932	D	0	-9.6938	14.3979	0.67022	0.0:0.0:0.0:1.0	.	1990;1990	A6NIW2;Q5JSL3	.;DOC11_HUMAN	C	1990	ENSP00000276204:F1990C;ENSP00000276202:F1990C	ENSP00000276202:F1990C	F	+	2	0	DOCK11	117701075	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.618000	0.83043	1.999000	0.58509	0.483000	0.47432	TTT		0.363	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		53	74	0	0	0	1	0	53	74					G	117817047	T	G	117817047	3	3	48	1	0	0	0	0	1	0	0	0	4688	1841	64	4	6175	4	DOCK11	23	117817047	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	289950	117817047	37453513	4622	9090										
IL13RA1	3597	broad.mit.edu	37	chrX	117875003	117875003	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcagccacctgtgacaaatTtgagtgtctctgttgaaaac	8	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:117875003T>G	ENST00000371666.3	+	2	179	c.112T>G	c.(112-114)Ttg>Gtg	p.L38V	IL13RA1_ENST00000371642.1_Missense_Mutation_p.L38V|SNORA35_ENST00000458908.1_RNA	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	38	Fibronectin type-III 1. {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)	p.L38V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TGTGACAAATTTGAGTGTCTC	0.373																																						ENST00000371666.3																			1	Substitution - Missense(1)	p.L38V(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						c.(112-114)Ttg>Gtg		interleukin 13 receptor, alpha 1							107	103	104					X																	117875003		2203	4300	6503	SO:0001583	missense	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117875003T>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.112T>G	X.37:g.117875003T>G	ENSP00000360730:p.Leu38Val		Somatic				IL13RA1_ENST00000371642.1_Missense_Mutation_p.L38V	p.L38V	NM_001560.2	NP_001551.1	WXS	Illumina GAIIx	Phase_I	P78552	I13R1_HUMAN			2	179	+			38					O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	c.112T>G	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.949491	0.34377	.	.	ENSG00000131724	ENST00000371666;ENST00000371642	D;D	0.94828	-3.23;-3.53	5.76	4.53	0.55603	.	0.275715	0.26286	N	0.025248	D	0.86830	0.6027	N	0.17082	0.46	0.80722	D	1	B;B;B	0.26445	0.014;0.014;0.149	B;B;B	0.22386	0.021;0.021;0.039	T	0.82655	-0.0350	10	0.29301	T	0.29	-5.179	8.2157	0.31509	0.0:0.0:0.1992:0.8008	.	38;38;38	Q5JSL4;P78552;Q9UDY5	.;I13R1_HUMAN;.	V	38	ENSP00000360730:L38V;ENSP00000360705:L38V	ENSP00000360705:L38V	L	+	1	2	IL13RA1	117759031	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	0.629000	0.24538	1.935000	0.56089	0.486000	0.48141	TTG		0.373	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		31	52	0	0	0	1	0	31	52					G	117875003	T	G	117875003	3	3	48	1	0	0	0	0	1	0	0	0	7638	1838	64	4	118	4	IL13RA1	23	117875003	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	57956	117875003	37395557	4623	9091										
LONRF3	79836	broad.mit.edu	37	chrX	118112414	118112414	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	atagcatgtaagctccgcccGatgggttttaaggtgagtgt	13	7	0	1	rs140224937	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118112414G>A	ENST00000371628.3	+	2	955	c.924G>A	c.(922-924)ccG>ccA	p.P308P	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_De_novo_Start_InFrame|LONRF3_ENST00000304778.7_Silent_p.P308P	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	308							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						AGCTCCGCCCGATGGGTTTTA	0.498													G|||	9	0.00238411	0.0023	0	3775	,	,		14159	0		0	False		,,,				2504	0.0061					ENST00000422289.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36								LON peptidase N-terminal domain and ring finger 3		G	,	11,3824		1,8,1,1623,570	117	104	108		924,924	-5.4	0.8	X	dbSNP_134	108	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous	LONRF3	NM_001031855.1,NM_024778.4	,	1,8,1,4051,2442	AA,AG,A,GG,G		0.0,0.2868,0.1041	,	308/760,308/719	118112414	11,10552	2203	4300	6503	SO:0001819	synonymous_variant	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118112414G>A	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.924G>A	X.37:g.118112414G>A			Somatic				LONRF3_ENST00000304778.7_Silent_p.P308P|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Silent_p.P308P|LONRF3_ENST00000365713.2_Silent_p.P308P				WXS	Illumina GAIIx	Phase_I	Q496Y0	LONF3_HUMAN			0	721	+								Q5JPN6|Q8NB00|Q9H647	Translation_Start_Site	SNP	ENST00000371628.3	37		CCDS35374.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.146	0.582739	0.13749	0.002868	0.0	ENSG00000175556	ENST00000439603	.	.	.	5.46	-5.45	0.02616	.	.	.	.	.	T	0.35068	0.0919	.	.	.	0.40730	D	0.982738	.	.	.	.	.	.	T	0.36456	-0.9747	4	.	.	.	3.2531	0.9306	0.01334	0.3433:0.2844:0.192:0.1803	.	.	.	.	N	115	.	.	D	+	1	0	LONRF3	117996442	0.000000	0.05858	0.786000	0.31890	0.886000	0.51366	-1.453000	0.02383	-1.179000	0.02737	-1.186000	0.01703	GAT		0.498	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		23	54	0	0	0	1	0	23	54					A	118112414	G	A	118112414	2	1	48	1	0	0	0	0	0	0	0	1	8905	1045	37	1		1	LONRF3	23	118112414	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	237411	118112414	37158146	4624	9092										
SLC25A5	292	broad.mit.edu	37	chrX	118603829	118603829	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgggtggtgtggacaagaGaacccagttttggctctact	13	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118603829G>T	ENST00000317881.8	+	2	433	c.317G>T	c.(316-318)aGa>aTa	p.R106I	SLC25A5_ENST00000460013.1_3'UTR|SLC25A5-AS1_ENST00000446986.1_RNA	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	106					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GTGGACAAGAGAACCCAGTTT	0.517																																						ENST00000317881.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12						c.(316-318)aGa>aTa		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	Clodronate(DB00720)						106	105	105					X																	118603829		2203	4300	6503	SO:0001583	missense	292				chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding	g.chrX:118603829G>T	BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"Solute carriers"	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.317G>T	X.37:g.118603829G>T	ENSP00000360671:p.Arg106Ile		Somatic				SLC25A5_ENST00000460013.1_3'UTR	p.R106I	NM_001152.4	NP_001143.2	WXS	Illumina GAIIx	Phase_I	P05141	ADT2_HUMAN			2	433	+			106					B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	c.317G>T	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907215	0.33628	.	.	ENSG00000005022	ENST00000317881	T	0.79141	-1.24	4.04	2.25	0.28309	Mitochondrial carrier domain (2);	0.150201	0.56097	D	0.000029	T	0.68439	0.3001	L	0.52126	1.63	0.39621	D	0.970034	B	0.19200	0.034	B	0.16289	0.015	T	0.63323	-0.6663	10	0.72032	D	0.01	.	7.0308	0.24967	0.3163:0.0:0.6837:0.0	.	106	P05141	ADT2_HUMAN	I	106	ENSP00000360671:R106I	ENSP00000360671:R106I	R	+	2	0	SLC25A5	118487857	0.983000	0.35010	0.988000	0.46212	0.991000	0.79684	1.255000	0.32909	0.301000	0.22738	0.529000	0.55759	AGA		0.517	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		51	142	1	0	1.95508e-11	1	2.43271e-11	51	142					T	118603829	G	T	118603829	3	4	48	1	0	0	0	0	1	0	0	0	14527	942	33	2	323	2	SLC25A5	23	118603829	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	491415	118603829	36666731	4625	9093										
NKRF	55922	broad.mit.edu	37	chrX	118724345	118724345	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgttaaggataccaattgcaTcatttgcattttctgtaatg	7	6	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118724345T>C	ENST00000371527.1	-	2	1695	c.1043A>G	c.(1042-1044)gAt>gGt	p.D348G	NKRF_ENST00000542113.1_Missense_Mutation_p.D363G|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.D348G	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	348					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						ACCAATTGCATCATTTGCATT	0.408																																						ENST00000371527.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1042-1044)gAt>gGt		NFKB repressing factor							107	103	104					X																	118724345		2203	4300	6503	SO:0001583	missense	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118724345T>C	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1043A>G	X.37:g.118724345T>C	ENSP00000360582:p.Asp348Gly		Somatic				NKRF_ENST00000542113.1_Missense_Mutation_p.D363G|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.D348G	p.D348G	NM_001173488.1	NP_001166959.1	WXS	Illumina GAIIx	Phase_I	O15226	NKRF_HUMAN			2	1695	-			348					G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	c.1043A>G	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.915098	0.33815	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.79653	-1.29;-1.29;-1.29	5.81	5.81	0.92471	Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.76442	0.3988	L	0.51422	1.61	0.80722	D	1	B	0.34372	0.451	B	0.33339	0.162	T	0.76686	-0.2868	10	0.51188	T	0.08	-22.0643	14.2249	0.65853	0.0:0.0:0.0:1.0	.	348	O15226	NKRF_HUMAN	G	348;348;363	ENSP00000360582:D348G;ENSP00000304803:D348G;ENSP00000442308:D363G	ENSP00000304803:D348G	D	-	2	0	NKRF	118608373	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	7.661000	0.83786	1.958000	0.56883	0.486000	0.48141	GAT		0.408	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		25	89	0	0	0	1	0	25	89					C	118724345	T	C	118724345	3	2	48	1	0	0	0	0	1	0	0	0	10456	1435	50	4	1033	4	NKRF	23	118724345	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	120516	118724345	36546215	4626	9094										
NKRF	55922	broad.mit.edu	37	chrX	118724928	118724928	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtgatggtgaaggctcagGagttgactgagagtttgcct	15	6	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118724928G>T	ENST00000371527.1	-	2	1112	c.460C>A	c.(460-462)Cct>Act	p.P154T	NKRF_ENST00000542113.1_Missense_Mutation_p.P169T|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.P154T	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	154	Active repression domain.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.P154S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GAAGGCTCAGGAGTTGACTGA	0.463																																						ENST00000371527.1																			1	Substitution - Missense(1)	p.P154S(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(460-462)Cct>Act		NFKB repressing factor							137	115	122					X																	118724928		2203	4300	6503	SO:0001583	missense	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118724928G>T	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.460C>A	X.37:g.118724928G>T	ENSP00000360582:p.Pro154Thr		Somatic				NKRF_ENST00000542113.1_Missense_Mutation_p.P169T|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.P154T	p.P154T	NM_001173488.1	NP_001166959.1	WXS	Illumina GAIIx	Phase_I	O15226	NKRF_HUMAN			2	1112	-			154			Active repression domain.		G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	c.460C>A	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	G	1.945	-0.442539	0.04604	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.41758	0.99;0.99;0.99	5.69	2.78	0.32641	.	0.340824	0.31167	N	0.008136	T	0.19287	0.0463	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09729	-1.0661	10	0.39692	T	0.17	-2.2878	5.3853	0.16215	0.0831:0.3457:0.4527:0.1184	.	154	O15226	NKRF_HUMAN	T	154;154;169	ENSP00000360582:P154T;ENSP00000304803:P154T;ENSP00000442308:P169T	ENSP00000304803:P154T	P	-	1	0	NKRF	118608956	0.002000	0.14202	0.697000	0.30258	0.832000	0.47134	0.240000	0.18042	1.142000	0.42291	0.594000	0.82650	CCT		0.463	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		30	74	1	0	2.90539e-05	1	3.18585e-05	30	74					T	118724928	G	T	118724928	3	4	48	1	0	0	0	0	1	0	0	0	10456	1174	41	2	1616	2	NKRF	23	118724928	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	583	118724928	36545632	4627	9095										
SEPT6	23157	broad.mit.edu	37	chrX	118763353	118763353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctgggactggagcagctcaGccgccgtctttctttgcttg	12	13	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118763353G>A	ENST00000343984.5	-	9	1472	c.1208C>T	c.(1207-1209)gCt>gTt	p.A403V	SEPT6_ENST00000489216.1_Missense_Mutation_p.A403V|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000360156.7_Missense_Mutation_p.A403V|SEPT6_ENST00000354416.3_Missense_Mutation_p.A403V|SEPT6_ENST00000394610.1_Missense_Mutation_p.A403V|SEPT6_ENST00000354228.4_Missense_Mutation_p.A403V|SEPT6_ENST00000394617.2_Missense_Mutation_p.A433V|SEPT6_ENST00000394616.4_Missense_Mutation_p.A345V	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	403					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						GAGCAGCTCAGCCGCCGTCTT	0.512			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.(1207-1209)gCt>gTt		septin 6							127	124	125					X																	118763353		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:118763353G>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.1208C>T	X.37:g.118763353G>A	ENSP00000341524:p.Ala403Val		Somatic				SEPT6_ENST00000394616.4_Missense_Mutation_p.A345V|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000394617.2_Missense_Mutation_p.A433V|SEPT6_ENST00000489216.1_Missense_Mutation_p.A403V|SEPT6_ENST00000360156.7_Missense_Mutation_p.A403V|SEPT6_ENST00000343984.5_Missense_Mutation_p.A403V|SEPT6_ENST00000354416.3_Missense_Mutation_p.A403V|SEPT6_ENST00000354228.4_Missense_Mutation_p.A403V	p.A403V	NM_145799.3	NP_665798.1	WXS	Illumina GAIIx	Phase_I	Q14141	SEPT6_HUMAN			9	1472	-			403					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	c.1208C>T	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	G	7.982	0.751355	0.15778	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617	D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.41	5.41	0.78517	.	0.102964	0.64402	D	0.000003	T	0.74427	0.3715	N	0.17082	0.46	0.80722	D	1	P;B;B;B	0.43477	0.808;0.0;0.001;0.0	P;B;B;B	0.44811	0.461;0.001;0.003;0.003	T	0.71988	-0.4426	10	0.10902	T	0.67	.	17.1462	0.86767	0.0:0.0:1.0:0.0	.	433;345;403;403	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	V	403;403;403;403;403;403;345;433	ENSP00000353278:A403V;ENSP00000346169:A403V;ENSP00000418715:A403V;ENSP00000346397:A403V;ENSP00000378108:A403V;ENSP00000341524:A403V;ENSP00000378114:A345V;ENSP00000378115:A433V	ENSP00000341524:A403V	A	-	2	0	SEPT6	118647381	1.000000	0.71417	0.051000	0.19133	0.112000	0.19704	7.647000	0.83462	2.259000	0.74868	0.600000	0.82982	GCT		0.512	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		49	90	0	0	0	1	0	49	90					A	118763353	G	A	118763353	3	1	48	1	0	0	0	0	1	0	0	0	14083	971	34	3	126	3	SEPT6	23	118763353	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	38425	118763353	36507207	4628	9096										
UPF3B	65109	broad.mit.edu	37	chrX	118979216	118979216	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttagtcttcttttttgcagcTttttgaaaaggtgcaaattc	7	6	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118979216T>A	ENST00000276201.2	-	4	483	c.414A>T	c.(412-414)aaA>aaT	p.K138N	UPF3B_ENST00000345865.2_Missense_Mutation_p.K138N|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	138	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				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)|positive regulation of translation (GO:0045727)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTTTTGCAGCTTTTTGAAAAG	0.343																																						ENST00000276201.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						c.(412-414)aaA>aaT		UPF3 regulator of nonsense transcripts homolog B (yeast)							128	116	120					X																	118979216		2202	4300	6502	SO:0001583	missense	0				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118979216T>A	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"mental retardation, X-linked 62"	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.414A>T	X.37:g.118979216T>A	ENSP00000276201:p.Lys138Asn		Somatic				UPF3B_ENST00000345865.2_Missense_Mutation_p.K138N|UPF3B_ENST00000478840.1_5'UTR	p.K138N	NM_080632.2	NP_542199.1	WXS	Illumina GAIIx	Phase_I	Q9BZI7	REN3B_HUMAN			4	483	-			138			Necessary for interaction with UPF2.|Sufficient for association with EJC core.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	c.414A>T	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004498	0.74932	.	.	ENSG00000125351	ENST00000276201;ENST00000345865;ENST00000439808	T;T	0.70282	-0.47;-0.47	5.12	5.12	0.69794	Regulator of nonsense-mediated decay, UPF3 (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.84848	0.5563	M	0.85373	2.75	0.54753	D	0.999988	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.87302	0.2306	10	0.87932	D	0	.	13.1091	0.59263	0.0:0.0:0.0:1.0	.	138;138	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	N	138	ENSP00000276201:K138N;ENSP00000245418:K138N	ENSP00000276201:K138N	K	-	3	2	UPF3B	118863244	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.909000	0.39917	1.688000	0.51068	0.481000	0.45027	AAA		0.343	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			25	38	0	0	0	1	0	25	38					A	118979216	T	A	118979216	3	1	48	1	0	0	0	0	1	0	0	0	17021	1606	56	4	1069	4	UPF3B	23	118979216	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	215863	118979216	36291344	4629	9097										
NKAP	79576	broad.mit.edu	37	chrX	119070327	119070327	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacttcttatgttttcttttCgatgattttttctttctcct	3	8	4	1	rs10577974		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:119070327C>T	ENST00000371410.3	-	4	772	c.606G>A	c.(604-606)tcG>tcA	p.S202S	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	202	Lys-rich.|Necessary for interaction with CIR1.				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						GTTTTCTTTTCGATGATTTTT	0.348																																						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.(604-606)tcG>tcA		NFKB activating protein							160	136	144					X																	119070327		2203	4300	6503	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:119070327C>T	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.606G>A	X.37:g.119070327C>T			Somatic				NKAP_ENST00000477789.1_5'UTR	p.S202S	NM_024528.3	NP_078804.2	WXS	Illumina GAIIx	Phase_I	Q8N5F7	NKAP_HUMAN			4	772	-			202			Lys-rich.|Necessary for interaction with CIR1.		Q6IPW6|Q96BQ2|Q9H638	Silent	SNP	ENST00000371410.3	37	c.606G>A	CCDS14592.1																																																																																				0.348	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		10	38	0	0	0	1	0	10	38					T	119070327	C	T	119070327	2	4	48	1	0	0	0	0	0	0	0	1	10448	871	31	1		1	NKAP	23	119070327	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	91111	119070327	36200233	4630	9098										
FAM70A	55026	broad.mit.edu	37	chrX	119425181	119425181	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acaccaaagctgataaacacGatagaagccaccagctgtag	8	11	0	2	rs143048894	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:119425181G>A	ENST00000309720.5	-	4	402	c.279C>T	c.(277-279)atC>atT	p.I93I	TMEM255A_ENST00000371369.4_Silent_p.I93I|TMEM255A_ENST00000440464.1_Silent_p.I93I	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	93						integral component of membrane (GO:0016021)											TGATAAACACGATAGAAGCCA	0.488																																						ENST00000371369.4																			0											c.(277-279)atC>atT		transmembrane protein 255A		G	,,	0,3835		0,0,0,1632,571	66	48	55		279,279,279	0.2	1	X	dbSNP_134	55	10,6718		0,8,2,2420,1870	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM70A	NM_001104544.1,NM_001104545.1,NM_017938.3	,,	0,8,2,4052,2441	AA,AG,A,GG,G		0.1486,0.0,0.0947	,,	93/326,93/242,93/350	119425181	10,10553	2203	4300	6503	SO:0001819	synonymous_variant	55026							g.chrX:119425181G>A	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"family with sequence similarity 70, member A"	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.279C>T	X.37:g.119425181G>A			Somatic				TMEM255A_ENST00000309720.5_Silent_p.I93I|TMEM255A_ENST00000440464.1_Silent_p.I93I	p.I93I	NM_001104544.1	NP_001098014.1	WXS	Illumina GAIIx	Phase_I					4	505	-								A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Silent	SNP	ENST00000309720.5	37	c.279C>T	CCDS14597.1																																																																																				0.488	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		3	18	0	0	0	1	0	3	18					A	119425181	G	A	119425181	2	1	48	1	0	0	0	0	0	0	0	1	5613	1048	37	1		1	FAM70A	23	119425181	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	354854	119425181	35845379	4631	9099										
LAMP2	3920	broad.mit.edu	37	chrX	119565273	119565273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgccaaggcagctcccaccgCtatgggcacaaggaagttgt	12	12	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:119565273C>T	ENST00000200639.4	-	9	1274	c.1138G>A	c.(1138-1140)Gcg>Acg	p.A380T	LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000538785.1_Intron			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	380					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GCTCCCACCGCTATGGGCACA	0.438																																						ENST00000200639.4																			0				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						c.(1138-1140)Gcg>Acg		lysosomal-associated membrane protein 2							172	160	164					X																	119565273		2203	4300	6503	SO:0001583	missense	0				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119565273C>T	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"CD molecules"	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.1138G>A	X.37:g.119565273C>T	ENSP00000200639:p.Ala380Thr		Somatic				LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000538785.1_Intron	p.A380T			WXS	Illumina GAIIx	Phase_I	P13473	LAMP2_HUMAN			9	1274	-			380					A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	ENST00000200639.4	37	c.1138G>A	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021719	0.93462	.	.	ENSG00000005893	ENST00000200639	T	0.38722	1.12	5.82	5.82	0.92795	Lysosome-associated membrane glycoprotein, conserved site (1);	.	.	.	.	T	0.64204	0.2577	M	0.86420	2.815	0.80722	D	1	P	0.44877	0.845	P	0.52856	0.711	T	0.67118	-0.5751	9	0.45353	T	0.12	.	17.5321	0.87817	0.0:1.0:0.0:0.0	.	380	P13473	LAMP2_HUMAN	T	380	ENSP00000200639:A380T	ENSP00000200639:A380T	A	-	1	0	LAMP2	119449301	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.237000	0.58681	2.461000	0.83175	0.597000	0.82753	GCG		0.438	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			76	170	0	0	0	1	0	76	170					T	119565273	C	T	119565273	3	4	48	1	0	0	0	0	1	0	0	0	8627	797	28	3	245	3	LAMP2	23	119565273	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	140092	119565273	35705287	4632	9100										
CUL4B	8450	broad.mit.edu	37	chrX	119670796	119670796	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttacctctggtggtaaatGaacttccataggcacatatg	8	9	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:119670796G>T	ENST00000404115.3	-	17	2487	c.2086C>A	c.(2086-2088)Cat>Aat	p.H696N	CUL4B_ENST00000371322.5_Missense_Mutation_p.H678N|CUL4B_ENST00000336592.6_Missense_Mutation_p.H683N	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	696					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGTGGTAAATGAACTTCCATA	0.353																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2032-2034)Cat>Aat		cullin 4B							120	103	109					X																	119670796		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119670796G>T	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2086C>A	X.37:g.119670796G>T	ENSP00000384109:p.His696Asn		Somatic				CUL4B_ENST00000404115.3_Missense_Mutation_p.H696N|CUL4B_ENST00000336592.6_Missense_Mutation_p.H683N	p.H678N	NM_001079872.1	NP_001073341.1	WXS	Illumina GAIIx	Phase_I	Q13620	CUL4B_HUMAN			15	2093	-			696					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.2032C>A	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	G	5.099	0.203864	0.09704	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.73258	-0.73;-0.73;-0.73	5.84	5.84	0.93424	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.56804	0.2010	N	0.17345	0.48	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.10450	0.0;0.005;0.003	T	0.51919	-0.8644	9	.	.	.	-14.9097	17.9659	0.89099	0.0:0.0:1.0:0.0	.	500;696;678	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	N	678;683;696	ENSP00000360373:H678N;ENSP00000338919:H683N;ENSP00000384109:H696N	.	H	-	1	0	CUL4B	119554824	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.742000	0.98846	2.463000	0.83235	0.594000	0.82650	CAT		0.353	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		22	37	1	0	2.89027e-11	1	3.58842e-11	22	37					T	119670796	G	T	119670796	3	4	48	1	0	0	0	0	1	0	0	0	4060	1290	45	2	679	2	CUL4B	23	119670796	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	105523	119670796	35599764	4633	9101										
C1GALT1C1	29071	broad.mit.edu	37	chrX	119760240	119760240	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctactacctggttggggtgaTaagtcattgcctctttaata	9	8	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:119760240T>C	ENST00000304661.5	-	2	1020	c.782A>G	c.(781-783)tAt>tGt	p.Y261C	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.Y261C	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	261					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						GTTGGGGTGATAAGTCATTGC	0.383																																						ENST00000304661.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						c.(781-783)tAt>tGt		C1GALT1-specific chaperone 1							181	162	168					X																	119760240		2203	4300	6503	SO:0001583	missense	29071					integral to membrane		g.chrX:119760240T>C	AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.782A>G	X.37:g.119760240T>C	ENSP00000304364:p.Tyr261Cys		Somatic				C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.Y261C	p.Y261C	NM_001011551.2	NP_001011551.1	WXS	Illumina GAIIx	Phase_I	Q96EU7	C1GLC_HUMAN			2	1020	-			261					A8K246|Q8WWS3|Q9NZX1	Missense_Mutation	SNP	ENST00000304661.5	37	c.782A>G	CCDS14602.1	.	.	.	.	.	.	.	.	.	.	T	2.193	-0.384860	0.04966	.	.	ENSG00000171155	ENST00000304661;ENST00000371313	T;T	0.52526	0.66;0.66	5.46	4.31	0.51392	.	0.513896	0.23081	N	0.052142	T	0.36826	0.0981	L	0.50333	1.59	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.26189	-1.0110	9	.	.	.	-19.9112	5.0889	0.14698	0.0:0.1679:0.1534:0.6787	.	261	Q96EU7	C1GLC_HUMAN	C	261	ENSP00000304364:Y261C;ENSP00000360363:Y261C	.	Y	-	2	0	C1GALT1C1	119644268	1.000000	0.71417	0.701000	0.30321	0.654000	0.38779	1.637000	0.37155	0.808000	0.34231	0.441000	0.28932	TAT		0.383	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058117.1	NM_152692		24	59	0	0	0	1	0	24	59					C	119760240	T	C	119760240	3	2	48	1	0	0	0	0	1	0	0	0	1955	1406	49	4	178	4	C1GALT1C1	23	119760240	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	89444	119760240	35510320	4634	9102										
GRIA3	2892	broad.mit.edu	37	chrX	122460031	122460031	+	Silent	SNP	C	C	T													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aagcgatacttgattgactgCgaagtcgaaaggattaacac							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:122460031C>T	ENST00000371251.1	+	4	715	c.663C>T	c.(661-663)tgC>tgT	p.C221C	GRIA3_ENST00000264357.5_Silent_p.C221C|GRIA3_ENST00000542149.1_Silent_p.C221C|GRIA3_ENST00000541091.1_Silent_p.C205C|GRIA3_ENST00000371256.5_Silent_p.C221C			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	221					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)	TGATTGACTGCGAAGTCGAAA	0.418																																						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.(661-663)tgC>tgT		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						133	113	120					X																	122460031		2203	4300	6503	SO:0001819	synonymous_variant	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:122460031C>T	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.663C>T	X.37:g.122460031C>T			Somatic				GRIA3_ENST00000542149.1_Silent_p.C221C|GRIA3_ENST00000371251.1_Silent_p.C221C|GRIA3_ENST00000541091.1_Silent_p.C205C|GRIA3_ENST00000371256.5_Silent_p.C221C	p.C221C	NM_000828.4	NP_000819.3	WXS	Illumina GAIIx	Phase_I	P42263	GRIA3_HUMAN			4	955	+			221					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	SNP	ENST00000371251.1	37	c.663C>T	CCDS14604.1																																																																																				0.418	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		43	61	0	0	0	1	0	43	61					T	122460031	C	T	122460031	2	4	48	1	0	0	0	0	0	0	0	1	6778	776	27	1		1	GRIA3	23	122460031	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	2699791	122460031	32810529	4635	9103	25	2								
GRIA3	2892	broad.mit.edu	37	chrX	122460038	122460038	+	Missense_Mutation	SNP	G	G	A													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acttgattgactgcgaagtcGaaaggattaacacaattttg							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:122460038G>A	ENST00000371251.1	+	4	722	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	GRIA3_ENST00000264357.5_Missense_Mutation_p.E224K|GRIA3_ENST00000542149.1_Missense_Mutation_p.E224K|GRIA3_ENST00000541091.1_Missense_Mutation_p.E208K|GRIA3_ENST00000371256.5_Missense_Mutation_p.E224K			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	224					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)	CTGCGAAGTCGAAAGGATTAA	0.418																																						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.(670-672)Gaa>Aaa		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						123	106	112					X																	122460038		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:122460038G>A	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.670G>A	X.37:g.122460038G>A	ENSP00000360297:p.Glu224Lys		Somatic				GRIA3_ENST00000542149.1_Missense_Mutation_p.E224K|GRIA3_ENST00000371251.1_Missense_Mutation_p.E224K|GRIA3_ENST00000541091.1_Missense_Mutation_p.E208K|GRIA3_ENST00000371256.5_Missense_Mutation_p.E224K	p.E224K	NM_000828.4	NP_000819.3	WXS	Illumina GAIIx	Phase_I	P42263	GRIA3_HUMAN			4	962	+			224					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.670G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714256	0.68730	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	5.66	4.8	0.61643	Extracellular ligand-binding receptor (1);	0.182950	0.56097	D	0.000022	T	0.79106	0.4390	L	0.37561	1.115	0.53688	D	0.999978	B;B;B	0.26400	0.148;0.135;0.111	B;B;B	0.22386	0.039;0.027;0.016	T	0.76293	-0.3012	10	0.87932	D	0	.	12.8719	0.57970	0.0799:0.0:0.9201:0.0	.	208;224;224	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	K	224;224;224;224;208	ENSP00000264357:E224K;ENSP00000446146:E224K;ENSP00000360302:E224K;ENSP00000360297:E224K;ENSP00000446440:E208K	ENSP00000264357:E224K	E	+	1	0	GRIA3	122287719	1.000000	0.71417	0.943000	0.38184	0.998000	0.95712	9.444000	0.97578	1.145000	0.42336	0.600000	0.82982	GAA		0.418	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		12	89	0	0	0	1	0	12	89					A	122460038	G	A	122460038	3	1	48	1	0	0	0	0	1	0	0	0	6778	1059	37	1	684	1	GRIA3	23	122460038	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	7	122460038	32810522	4636	9104	25	2								
GRIA3	2892	broad.mit.edu	37	chrX	122561805	122561805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tttatagatcactctccgggCgcattgttggaggggtttgg	14	7	2	1	rs137852351		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:122561805C>T	ENST00000371251.1	+	12	1943	c.1891C>T	c.(1891-1893)Cgc>Tgc	p.R631C	GRIA3_ENST00000264357.5_Missense_Mutation_p.R631C|GRIA3_ENST00000542149.1_Missense_Mutation_p.R631C|GRIA3_ENST00000371256.5_Missense_Mutation_p.R631C			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	631			R -> S (in MRX94; homomers have minimal or no current; heteromers have altered desensitization kinetics). {ECO:0000269|PubMed:17989220}.		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)	p.R631C(2)		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)	ACTCTCCGGGCGCATTGTTGG	0.438																																						ENST00000264357.5																			2	Substitution - Missense(2)	p.R631C(2)	large_intestine(2)	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	GRCh37	CM074897	GRIA3	M	rs137852351	c.(1891-1893)Cgc>Tgc		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						138	123	128					X																	122561805		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:122561805C>T	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.1891C>T	X.37:g.122561805C>T	ENSP00000360297:p.Arg631Cys		Somatic				GRIA3_ENST00000542149.1_Missense_Mutation_p.R631C|GRIA3_ENST00000371251.1_Missense_Mutation_p.R631C|GRIA3_ENST00000371256.5_Missense_Mutation_p.R631C	p.R631C	NM_000828.4	NP_000819.3	WXS	Illumina GAIIx	Phase_I	P42263	GRIA3_HUMAN			12	2183	+			631		R -> S (in MRX94; homomers have minimal or no current; heteromers have altered desensitization kinetics).			D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.1891C>T	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427346	0.62733	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.36	4.37	0.52481	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.90477	0.7017	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.92881	0.6323	10	0.87932	D	0	.	12.0012	0.53232	0.2805:0.7195:0.0:0.0	.	631;631	P42263;P42263-2	GRIA3_HUMAN;.	C	631	ENSP00000264357:R631C;ENSP00000446146:R631C;ENSP00000360302:R631C;ENSP00000360297:R631C	ENSP00000264357:R631C	R	+	1	0	GRIA3	122389486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.243000	0.43115	2.367000	0.80283	0.600000	0.82982	CGC		0.438	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		15	113	0	0	0	1	0	15	113					T	122561805	C	T	122561805	3	4	48	1	0	0	0	0	1	0	0	0	6778	768	27	1	1937	1	GRIA3	23	122561805	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	101767	122561805	32708755	4637	9105										
XIAP	331	broad.mit.edu	37	chrX	123019607	123019607	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagtttaatagattaaaaaCttttgctaattttccaagtg	6	4	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:123019607C>A	ENST00000371199.3	+	2	394	c.95C>A	c.(94-96)aCt>aAt	p.T32N	XIAP_ENST00000355640.3_Missense_Mutation_p.T32N|XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Missense_Mutation_p.T32N	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	32					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						AGATTAAAAACTTTTGCTAAT	0.378									X-linked Lymphoproliferative syndrome																													ENST00000371199.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						c.(94-96)aCt>aAt		X-linked inhibitor of apoptosis							72	76	75					X																	123019607		2201	4299	6500	SO:0001583	missense	331	X-linked Lymphoproliferative syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123019607C>A	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"Baculoviral IAP repeat containing"	592	protein-coding gene	gene with protein product		300079	"baculoviral IAP repeat-containing 4"	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.95C>A	X.37:g.123019607C>A	ENSP00000360242:p.Thr32Asn		Somatic				XIAP_ENST00000355640.3_Missense_Mutation_p.T32N|XIAP_ENST00000434753.3_Missense_Mutation_p.T32N|XIAP_ENST00000468691.1_Intron	p.T32N	NM_001167.3	NP_001158.2	WXS	Illumina GAIIx	Phase_I	P98170	XIAP_HUMAN			2	394	+			32					D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	c.95C>A	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965381	0.74131	.	.	ENSG00000101966	ENST00000434753;ENST00000430625;ENST00000371199;ENST00000355640	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.81	5.81	0.92471	Baculoviral inhibition of apoptosis protein repeat (5);	0.074725	0.56097	D	0.000026	D	0.94013	0.8082	H	0.98068	4.14	0.58432	D	0.999993	D	0.76494	0.999	D	0.72625	0.978	D	0.96010	0.9001	9	.	.	.	.	19.1018	0.93276	0.0:1.0:0.0:0.0	.	32	P98170	XIAP_HUMAN	N	32	ENSP00000395230:T32N;ENSP00000400637:T32N;ENSP00000360242:T32N;ENSP00000347858:T32N	.	T	+	2	0	XIAP	122847288	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.680000	0.54641	2.461000	0.83175	0.508000	0.49915	ACT		0.378	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		47	81	1	0	6.1207e-33	1	8.77752e-33	47	81					A	123019607	C	A	123019607	3	1	48	1	0	0	0	0	1	0	0	0	17443	565	20	5	97	5	XIAP	23	123019607	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	457802	123019607	32250953	4638	9106										
STAG2	10735	broad.mit.edu	37	chrX	123185195	123185195	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgtctatgacccttgacaaaGaatatgatgttgcagtacaa	8	7	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:123185195G>T	ENST00000371160.1	+	13	1437	c.1147G>T	c.(1147-1149)Gaa>Taa	p.E383*	STAG2_ENST00000371157.3_Nonsense_Mutation_p.E383*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.E383*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.E383*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Nonsense_Mutation_p.E383*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.E314*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	383					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						CCTTGACAAAGAATATGATGT	0.279																																						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.(1147-1149)Gaa>Taa		stromal antigen 2							88	76	80					X																	123185195		2201	4294	6495	SO:0001587	stop_gained	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:123185195G>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.1147G>T	X.37:g.123185195G>T	ENSP00000360202:p.Glu383*		Somatic				STAG2_ENST00000371157.3_Nonsense_Mutation_p.E383*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.E383*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.E314*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.E383*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Nonsense_Mutation_p.E383*	p.E383*			WXS	Illumina GAIIx	Phase_I	Q8N3U4	STAG2_HUMAN			13	1437	+			383					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	c.1147G>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	40	8.450043	0.98817	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.0606	18.3073	0.90187	0.0:0.0:1.0:0.0	.	.	.	.	X	383;383;314;383;383;383;383	.	ENSP00000218089:E383X	E	+	1	0	STAG2	123012876	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.827000	0.99397	2.262000	0.75019	0.544000	0.68410	GAA		0.279	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		13	51	1	0	1.05317e-09	1	1.27574e-09	13	51					T	123185195	G	T	123185195	4	4	48	1	0	0	0	0	0	1	0	0	15258	943	33	2	1189	2	STAG2	23	123185195	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	165588	123185195	32085365	4639	9107										
ODZ1	10178	broad.mit.edu	37	chrX	123519848	123519848	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctaggcatggtgactgagaGcagacaatctggttggtcat	14	7	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:123519848G>T	ENST00000371130.3	-	28	5797	c.5734C>A	c.(5734-5736)Ctc>Atc	p.L1912I	TENM1_ENST00000422452.2_Missense_Mutation_p.L1919I|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1912					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)										GTGACTGAGAGCAGACAATCT	0.493																																						ENST00000422452.2																			0											c.(5755-5757)Ctc>Atc		teneurin transmembrane protein 1							116	98	104					X																	123519848		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123519848G>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.5734C>A	X.37:g.123519848G>T	ENSP00000360171:p.Leu1912Ile		Somatic				TENM1_ENST00000371130.3_Missense_Mutation_p.L1912I|STAG2_ENST00000469481.1_Intron	p.L1919I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina GAIIx	Phase_I					29	5818	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.5755C>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479051	0.26511	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85411	-1.98;-1.94	5.56	5.56	0.83823	.	0.139923	0.49305	D	0.000143	T	0.80565	0.4647	L	0.51422	1.61	0.34161	D	0.668685	B;B;B	0.21309	0.044;0.044;0.054	B;B;B	0.17979	0.014;0.014;0.02	T	0.79548	-0.1758	10	0.17369	T	0.5	.	14.1868	0.65609	0.0:0.1454:0.8546:0.0	.	1918;1919;1912	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	I	1912;1919	ENSP00000360171:L1912I;ENSP00000403954:L1919I	ENSP00000360171:L1912I	L	-	1	0	ODZ1	123347529	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	2.910000	0.48766	2.333000	0.79357	0.594000	0.82650	CTC		0.493	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		19	112	1	0	5.35267e-07	1	6.09026e-07	19	112					T	123519848	G	T	123519848	3	4	48	1	0	0	0	0	1	0	0	0	10843	971	34	5	2459	5	ODZ1	23	123519848	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	334653	123519848	31750712	4640	9108										
ODZ1	10178	broad.mit.edu	37	chrX	123554640	123554640	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gctaaggaggaaggggctttCatctttgcatctttggcata	12	7	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:123554640C>A	ENST00000371130.3	-	24	4545	c.4482G>T	c.(4480-4482)atG>atT	p.M1494I	TENM1_ENST00000422452.2_Missense_Mutation_p.M1501I|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1494					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)										AAGGGGCTTTCATCTTTGCAT	0.463																																						ENST00000422452.2																			0											c.(4501-4503)atG>atT		teneurin transmembrane protein 1							111	98	103					X																	123554640		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123554640C>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.4482G>T	X.37:g.123554640C>A	ENSP00000360171:p.Met1494Ile		Somatic				TENM1_ENST00000371130.3_Missense_Mutation_p.M1494I|STAG2_ENST00000469481.1_Intron	p.M1501I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina GAIIx	Phase_I					25	4566	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.4503G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097614	0.37048	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.89617	-2.54;-2.54	5.49	4.58	0.56647	Six-bladed beta-propeller, TolB-like (1);	0.056923	0.64402	D	0.000001	T	0.74412	0.3713	N	0.02751	-0.505	0.36361	D	0.860725	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.75448	-0.3314	10	0.72032	D	0.01	.	10.5804	0.45252	0.0:0.7744:0.1449:0.0807	.	1500;1501;1494	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	I	1494;1501	ENSP00000360171:M1494I;ENSP00000403954:M1501I	ENSP00000360171:M1494I	M	-	3	0	ODZ1	123382321	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.662000	0.46766	2.301000	0.77427	0.600000	0.82982	ATG		0.463	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		48	60	1	0	4.18559e-23	1	5.84444e-23	48	60					A	123554640	C	A	123554640	3	1	48	1	0	0	0	0	1	0	0	0	10843	826	29	2	3727	2	ODZ1	23	123554640	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	34792	123554640	31715920	4641	9109										
ODZ1	10178	broad.mit.edu	37	chrX	124097442	124097442	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctggctattgtaattcatcCtcagctcctggttatactcg	7	11	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:124097442C>A	ENST00000371130.3	-	1	224	c.161G>T	c.(160-162)aGg>aTg	p.R54M	TENM1_ENST00000422452.2_Missense_Mutation_p.R54M	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	54	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)										GTAATTCATCCTCAGCTCCTG	0.373																																						ENST00000422452.2																			0											c.(160-162)aGg>aTg		teneurin transmembrane protein 1							267	250	255					X																	124097442		2203	4300	6503	SO:0001583	missense	10178							g.chrX:124097442C>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.161G>T	X.37:g.124097442C>A	ENSP00000360171:p.Arg54Met		Somatic				TENM1_ENST00000371130.3_Missense_Mutation_p.R54M	p.R54M	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina GAIIx	Phase_I					1	224	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.161G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084915	0.76642	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.46451	0.87;0.87	5.78	5.78	0.91487	Teneurin intracellular, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.63768	0.2539	L	0.57536	1.79	0.53688	D	0.999975	D;D;D	0.76494	0.999;0.999;0.991	D;D;P	0.85130	0.997;0.997;0.897	T	0.65504	-0.6152	10	0.87932	D	0	.	18.9267	0.92548	0.0:1.0:0.0:0.0	.	54;54;54	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	M	54	ENSP00000360171:R54M;ENSP00000403954:R54M	ENSP00000360171:R54M	R	-	2	0	ODZ1	123925123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.627000	0.67784	2.417000	0.82017	0.600000	0.82982	AGG		0.373	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		72	101	1	0	3.61678e-42	1	5.2321e-42	72	101					A	124097442	C	A	124097442	3	1	48	1	0	0	0	0	1	0	0	0	10843	681	24	5	8165	5	ODZ1	23	124097442	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	542802	124097442	31173118	4642	9110										
ACTRT1	139741	broad.mit.edu	37	chrX	127185898	127185898	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggctgggttttactccaagCtcccgctcaaagagatgttt	10	10	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:127185898C>T	ENST00000371124.3	-	1	484	c.288G>A	c.(286-288)gaG>gaA	p.E96E		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	96						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						TTACTCCAAGCTCCCGCTCAA	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.(286-288)gaG>gaA		actin-related protein T1							225	214	218					X																	127185898		2203	4300	6503	SO:0001819	synonymous_variant	139741					cytoplasm|cytoskeleton		g.chrX:127185898C>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.288G>A	X.37:g.127185898C>T			Somatic					p.E96E	NM_138289.3	NP_612146.1	WXS	Illumina GAIIx	Phase_I	Q8TDG2	ACTT1_HUMAN			1	484	-			96					Q6X7C1|Q96L10	Silent	SNP	ENST00000371124.3	37	c.288G>A	CCDS14611.1																																																																																				0.473	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		127	218	0	0	0	1	0	127	218					T	127185898	C	T	127185898	2	4	48	1	0	0	0	0	0	0	0	1	218	796	28	3		3	ACTRT1	23	127185898	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3088456	127185898	28084662	4643	9111										
SMARCA1	6594	broad.mit.edu	37	chrX	128599822	128599822	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgacataaaacatagtactTtggcatccagggctttcttg	8	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128599822T>G	ENST00000371122.4	-	22	2945	c.2816A>C	c.(2815-2817)aAa>aCa	p.K939T	SMARCA1_ENST00000371121.3_Splice_Site_p.K927T|SMARCA1_ENST00000371123.1_Splice_Site_p.K927T	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	939					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						ACATAGTACTTTGGCATCCAG	0.333																																						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.e22+1		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							168	150	156					X																	128599822		2203	4300	6503	SO:0001630	splice_region_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128599822T>G	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2817+1A>C	X.37:g.128599822T>G			Somatic				SMARCA1_ENST00000371123.1_Splice_Site_p.K927_splice|SMARCA1_ENST00000371121.3_Splice_Site_p.K927_splice	p.K939_splice	NM_003069.3	NP_003060.2	WXS	Illumina GAIIx	Phase_I	P28370	SMCA1_HUMAN			22	2945	-			939					Q5JV41|Q5JV42	Splice_Site	SNP	ENST00000371122.4	37	c.2817_splice	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328914	0.81690	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.1	5.59	5.59	0.84812	SLIDE (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000002	D	0.97139	0.9065	H	0.94734	3.575	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	0.98156	1.0444	10	0.87932	D	0	-20.2929	14.7753	0.69726	0.0:0.0:0.0:1.0	.	918;939;927;939	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	T	927;927;939;918	ENSP00000360162:K927T;ENSP00000360164:K927T;ENSP00000360163:K939T;ENSP00000404275:K918T	ENSP00000360162:K927T	K	-	2	0	SMARCA1	128427503	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.989000	0.88205	1.870000	0.54199	0.486000	0.48141	AAA		0.333	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069	Missense_Mutation	12	82	0	0	0	1	0	12	82					G	128599822	T	G	128599822	5	3	48	1	0	0	0	0	0	0	1	0	14783	1855	64	4	360	4	SMARCA1	23	128599822	Splice_Site	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1413924	128599822	26670738	4644	9112										
SMARCA1	6594	broad.mit.edu	37	chrX	128657270	128657270	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtggacggcccgggctgctcGtcctctatgaccacgatagt	13	13	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128657270G>A	ENST00000371122.4	-	1	207	c.78C>T	c.(76-78)gaC>gaT	p.D26D	SMARCA1_ENST00000371121.3_Silent_p.D26D|SMARCA1_ENST00000371123.1_Silent_p.D26D|SMARCA1_ENST00000478420.1_5'Flank	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	26					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						CGGGCTGCTCGTCCTCTATGA	0.687																																						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.(76-78)gaC>gaT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							92	79	84					X																	128657270		2200	4298	6498	SO:0001819	synonymous_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:128657270G>A	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.78C>T	X.37:g.128657270G>A			Somatic				SMARCA1_ENST00000371123.1_Silent_p.D26D|SMARCA1_ENST00000371121.3_Silent_p.D26D	p.D26D	NM_003069.3	NP_003060.2	WXS	Illumina GAIIx	Phase_I	P28370	SMCA1_HUMAN			1	207	-			26					Q5JV41|Q5JV42	Silent	SNP	ENST00000371122.4	37	c.78C>T	CCDS14612.1																																																																																				0.687	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		16	93	0	0	0	1	0	16	93					A	128657270	G	A	128657270	2	1	48	1	0	0	0	0	0	0	0	1	14783	1136	40	1		1	SMARCA1	23	128657270	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	57448	128657270	26613290	4645	9113										
OCRL	4952	broad.mit.edu	37	chrX	128696430	128696430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggatcagtgtcgatacattCgtgatattgctacagaaaca	9	7	1	2	rs137853831		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128696430C>T	ENST00000371113.4	+	11	1174	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	OCRL_ENST00000357121.5_Missense_Mutation_p.R337C	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	337	5-phosphatase.		R -> C (in OCRL; associated with I-361; dbSNP:rs137853831). {ECO:0000269|PubMed:21031565}.|R -> P (in OCRL).		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						TCGATACATTCGTGATATTGC	0.393																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(1009-1011)Cgt>Tgt		oculocerebrorenal syndrome of Lowe							230	200	210					X																	128696430		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128696430C>T	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.1009C>T	X.37:g.128696430C>T	ENSP00000360154:p.Arg337Cys		Somatic				OCRL_ENST00000357121.5_Missense_Mutation_p.R337C	p.R337C	NM_000276.3	NP_000267.2	WXS	Illumina GAIIx	Phase_I	Q01968	OCRL_HUMAN			11	1174	+			337		R -> C (in OCRL; associated with I-361; dbSNP:rs137853831).|R -> P (in OCRL).			A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.1009C>T	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329893	0.41297	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.95656	-3.77;-3.77	5.54	4.69	0.59074	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.232471	0.42053	N	0.000761	D	0.94377	0.8192	M	0.84326	2.69	0.58432	D	0.999999	B;B	0.16603	0.007;0.018	B;B	0.15484	0.003;0.013	D	0.91478	0.5202	10	0.62326	D	0.03	.	8.1593	0.31190	0.1663:0.7482:0.0:0.0855	.	337;337	Q01968-2;Q01968	.;OCRL_HUMAN	C	337	ENSP00000360154:R337C;ENSP00000349635:R337C	ENSP00000349635:R337C	R	+	1	0	OCRL	128524111	0.723000	0.28027	0.993000	0.49108	0.972000	0.66771	1.167000	0.31847	1.108000	0.41662	0.513000	0.50165	CGT		0.393	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		53	103	0	0	0	1	0	53	103					T	128696430	C	T	128696430	3	4	48	1	0	0	0	0	1	0	0	0	10832	884	31	1	1051	1	OCRL	23	128696430	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	39160	128696430	26574130	4646	9114										
OCRL	4952	broad.mit.edu	37	chrX	128710410	128710410	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcacctggatcgaggcaaaGattacttcttgactatcagt	8	9	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128710410G>T	ENST00000371113.4	+	18	2161	c.1996G>T	c.(1996-1998)Gat>Tat	p.D666Y	OCRL_ENST00000357121.5_Missense_Mutation_p.D666Y	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	666	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCGAGGCAAAGATTACTTCTT	0.433																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(1996-1998)Gat>Tat		oculocerebrorenal syndrome of Lowe							177	146	157					X																	128710410		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128710410G>T	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.1996G>T	X.37:g.128710410G>T	ENSP00000360154:p.Asp666Tyr		Somatic				OCRL_ENST00000357121.5_Missense_Mutation_p.D666Y	p.D666Y	NM_000276.3	NP_000267.2	WXS	Illumina GAIIx	Phase_I	Q01968	OCRL_HUMAN			18	2161	+			666					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.1996G>T	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446346	0.84101	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.21191	2.02;2.02	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65269	-0.6209	10	0.87932	D	0	.	18.1109	0.89536	0.0:0.0:1.0:0.0	.	666;666	Q01968-2;Q01968	.;OCRL_HUMAN	Y	666	ENSP00000360154:D666Y;ENSP00000349635:D666Y	ENSP00000349635:D666Y	D	+	1	0	OCRL	128538091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.499000	0.84300	0.594000	0.82650	GAT		0.433	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		6	62	1	0	0.00116845	1	0.00122532	6	62					T	128710410	G	T	128710410	3	4	48	1	0	0	0	0	1	0	0	0	10832	942	33	2	2066	2	OCRL	23	128710410	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	13980	128710410	26560150	4647	9115										
XPNPEP2	7512	broad.mit.edu	37	chrX	128902444	128902444	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggtctccacccttgccatcCttggctggagtgtctagagg	12	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128902444C>A	ENST00000371106.3	+	21	2200	c.2008C>A	c.(2008-2010)Ctt>Att	p.L670I		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	670						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						CCTTGCCATCCTTGGCTGGAG	0.612																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(2008-2010)Ctt>Att		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							24	25	25					X																	128902444		2203	4298	6501	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128902444C>A	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.2008C>A	X.37:g.128902444C>A	ENSP00000360147:p.Leu670Ile		Somatic					p.L670I	NM_003399.5	NP_003390.4	WXS	Illumina GAIIx	Phase_I	O43895	XPP2_HUMAN			21	2200	+			670					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.2008C>A	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781199	0.31502	.	.	ENSG00000122121	ENST00000371106	T	0.57595	0.39	4.74	2.95	0.34219	.	0.159985	0.39146	N	0.001460	T	0.43875	0.1267	L	0.52759	1.655	0.09310	N	1	B	0.24618	0.107	B	0.27262	0.078	T	0.41610	-0.9499	10	0.59425	D	0.04	-12.8667	6.4622	0.21962	0.0:0.7722:0.0:0.2278	.	670	O43895	XPP2_HUMAN	I	670	ENSP00000360147:L670I	ENSP00000360147:L670I	L	+	1	0	XPNPEP2	128730125	0.248000	0.23930	0.003000	0.11579	0.055000	0.15305	0.905000	0.28504	0.419000	0.25927	0.594000	0.82650	CTT		0.612	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		7	29	1	0	0.0293803	1	0.0299069	7	29					A	128902444	C	A	128902444	3	1	48	1	0	0	0	0	1	0	0	0	17458	681	24	5	2090	5	XPNPEP2	23	128902444	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	192034	128902444	26368116	4648	9116										
UTP14A	10813	broad.mit.edu	37	chrX	129053155	129053155	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgttgcttctttaaggcaaGaactcccctggagcaggaaa	10	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129053155G>T	ENST00000394422.3	+	7	570	c.542G>T	c.(541-543)aGa>aTa	p.R181I	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Missense_Mutation_p.R13I|UTP14A_ENST00000425117.2_Missense_Mutation_p.R129I|UTP14A_ENST00000371051.5_Missense_Mutation_p.R127I	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	181					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTTAAGGCAAGAACTCCCCTG	0.438																																						ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(541-543)aGa>aTa		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							102	99	100					X																	129053155		2203	4300	6503	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129053155G>T	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.542G>T	X.37:g.129053155G>T	ENSP00000377944:p.Arg181Ile		Somatic				RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.R127I|UTP14A_ENST00000371042.3_Missense_Mutation_p.R13I|UTP14A_ENST00000425117.2_Missense_Mutation_p.R129I	p.R181I	NM_006649.3	NP_006640.2	WXS	Illumina GAIIx	Phase_I	Q9BVJ6	UT14A_HUMAN			7	570	+			181					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.542G>T	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810635	0.70797	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000427972;ENST00000371042	T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09	6.02	4.23	0.50019	.	0.247408	0.45867	D	0.000334	T	0.44477	0.1295	M	0.77820	2.39	0.53688	D	0.999978	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.72075	0.955;0.958;0.976	T	0.28586	-1.0039	10	0.44086	T	0.13	-4.7105	11.1118	0.48237	0.0703:0.1256:0.804:0.0	.	127;129;181	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	I	129;181;127;13;13	ENSP00000388669:R129I;ENSP00000377944:R181I;ENSP00000360090:R127I;ENSP00000413187:R13I;ENSP00000360081:R13I	ENSP00000360081:R13I	R	+	2	0	UTP14A	128880836	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.518000	0.45537	0.663000	0.31027	0.597000	0.82753	AGA		0.438	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		42	76	1	0	3.61848e-18	1	4.89221e-18	42	76					T	129053155	G	T	129053155	3	4	48	1	0	0	0	0	1	0	0	0	17110	942	33	2	568	2	UTP14A	23	129053155	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	150711	129053155	26217405	4649	9117										
BCORL1	63035	broad.mit.edu	37	chrX	129147295	129147295	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggcaactctgggaactggaGtccctgtggaggggaccctg	16	10	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129147295G>T	ENST00000218147.7	+	4	744	c.547G>T	c.(547-549)Gtc>Ttc	p.V183F	BCORL1_ENST00000359304.2_Missense_Mutation_p.V183F|BCORL1_ENST00000540052.1_Missense_Mutation_p.V183F|BCORL1_ENST00000303743.5_Missense_Mutation_p.V183F			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	183					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						GGGAACTGGAGTCCCTGTGGA	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.(547-549)Gtc>Ttc		BCL6 corepressor-like 1							102	98	99					X																	129147295		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129147295G>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.547G>T	X.37:g.129147295G>T	ENSP00000218147:p.Val183Phe		Somatic				BCORL1_ENST00000303743.5_Missense_Mutation_p.V183F|BCORL1_ENST00000359304.2_Missense_Mutation_p.V183F|BCORL1_ENST00000218147.7_Missense_Mutation_p.V183F	p.V183F	NM_021946.4	NP_068765.3	WXS	Illumina GAIIx	Phase_I	Q5H9F3	BCORL_HUMAN			3	591	+			183					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.547G>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022908	0.35701	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.54866	0.56;0.93;0.55;0.56	4.85	3.97	0.46021	.	0.000000	0.32147	N	0.006509	T	0.44767	0.1309	N	0.14661	0.345	0.09310	N	1	D;D	0.64830	0.994;0.978	P;P	0.56865	0.808;0.496	T	0.21586	-1.0241	9	.	.	.	-13.0055	7.9317	0.29905	0.0856:0.0:0.7584:0.156	.	183;183	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	F	183	ENSP00000218147:V183F;ENSP00000307541:V183F;ENSP00000352253:V183F;ENSP00000437775:V183F	.	V	+	1	0	BCORL1	128974976	0.998000	0.40836	1.000000	0.80357	0.946000	0.59487	2.868000	0.48436	1.982000	0.57802	0.529000	0.55759	GTC		0.577	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		14	140	1	0	4.3838e-07	1	4.998e-07	14	140					T	129147295	G	T	129147295	3	4	48	1	0	0	0	0	1	0	0	0	1387	1029	36	5	557	5	BCORL1	23	129147295	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	94140	129147295	26123265	4650	9118										
BCORL1	63035	broad.mit.edu	37	chrX	129148945	129148945	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catccctgctgctgaacaaaGaccccaacctgggcctcaac	7	17	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129148945G>T	ENST00000218147.7	+	4	2394	c.2197G>T	c.(2197-2199)Gac>Tac	p.D733Y	BCORL1_ENST00000359304.2_Missense_Mutation_p.D733Y|BCORL1_ENST00000540052.1_Missense_Mutation_p.D733Y|BCORL1_ENST00000303743.5_Missense_Mutation_p.D733Y			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	733					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D733N(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCTGAACAAAGACCCCAACCT	0.597																																						ENST00000540052.1																			1	Substitution - Missense(1)	p.D733N(1)	lung(1)	breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(2197-2199)Gac>Tac		BCL6 corepressor-like 1							97	79	85					X																	129148945		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148945G>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2197G>T	X.37:g.129148945G>T	ENSP00000218147:p.Asp733Tyr		Somatic				BCORL1_ENST00000303743.5_Missense_Mutation_p.D733Y|BCORL1_ENST00000359304.2_Missense_Mutation_p.D733Y|BCORL1_ENST00000218147.7_Missense_Mutation_p.D733Y	p.D733Y	NM_021946.4	NP_068765.3	WXS	Illumina GAIIx	Phase_I	Q5H9F3	BCORL_HUMAN			3	2241	+			733					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.2197G>T	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.14|17.14	3.314462|3.314462	0.60524|0.60524	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	T;T;T;T;T|.	0.61859|.	0.09;0.5;0.07;0.09;0.54|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.194116|.	0.25285|.	N|.	0.031772|.	T|T	0.58991|0.58991	0.2161|0.2161	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.76575|.	0.988;0.915|.	T|T	0.54977|0.54977	-0.8212|-0.8212	10|5	0.66056|.	D|.	0.02|.	-5.0121|-5.0121	18.0781|18.0781	0.89433|0.89433	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	733;733|.	Q5H9F3-2;Q5H9F3|.	.;BCORL_HUMAN|.	Y|I	733;733;733;733;333|168	ENSP00000218147:D733Y;ENSP00000307541:D733Y;ENSP00000352253:D733Y;ENSP00000437775:D733Y;ENSP00000399483:D333Y|.	ENSP00000218147:D733Y|.	D|R	+|+	1|2	0|0	BCORL1|BCORL1	128976626|128976626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.674000|8.674000	0.91191|0.91191	2.205000|2.205000	0.71048|0.71048	0.436000|0.436000	0.28706|0.28706	GAC|AGA		0.597	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		30	55	1	0	1.32181e-22	1	1.84065e-22	30	55					T	129148945	G	T	129148945	3	4	48	1	0	0	0	0	1	0	0	0	1387	942	33	2	2207	2	BCORL1	23	129148945	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1650	129148945	26121615	4651	9119										
BCORL1	63035	broad.mit.edu	37	chrX	129150157	129150157	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcagctccagccacaagccAaggccgtggtccggagttcc	12	15	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129150157A>G	ENST00000218147.7	+	4	3606	c.3409A>G	c.(3409-3411)Aag>Gag	p.K1137E	BCORL1_ENST00000359304.2_Missense_Mutation_p.K1137E|BCORL1_ENST00000540052.1_Missense_Mutation_p.K1137E|BCORL1_ENST00000303743.5_Missense_Mutation_p.K1137E			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1137					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						GCCACAAGCCAAGGCCGTGGT	0.587																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(3409-3411)Aag>Gag		BCL6 corepressor-like 1							22	19	20					X																	129150157		2202	4296	6498	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129150157A>G	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.3409A>G	X.37:g.129150157A>G	ENSP00000218147:p.Lys1137Glu		Somatic				BCORL1_ENST00000303743.5_Missense_Mutation_p.K1137E|BCORL1_ENST00000359304.2_Missense_Mutation_p.K1137E|BCORL1_ENST00000218147.7_Missense_Mutation_p.K1137E	p.K1137E	NM_021946.4	NP_068765.3	WXS	Illumina GAIIx	Phase_I	Q5H9F3	BCORL_HUMAN			3	3453	+			1137					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3409A>G	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.52|14.52	2.558689|2.558689	0.45590|0.45590	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822|ENST00000441294	T;T;T;T;T|.	0.47528|.	0.84;1.22;0.91;0.84;1.3|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.000000|.	0.38492|.	N|.	0.001662|.	T|T	0.37265|0.37265	0.0997|0.0997	L|L	0.29908|0.29908	0.895|0.895	0.18873|0.18873	N|N	0.999986|0.999986	D;D|.	0.63880|.	0.978;0.993|.	P;P|.	0.54629|.	0.731;0.757|.	T|T	0.24261|0.24261	-1.0165|-1.0165	10|5	0.33940|.	T|.	0.23|.	-16.1705|-16.1705	12.2974|12.2974	0.54857|0.54857	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1137;1137|.	Q5H9F3-2;Q5H9F3|.	.;BCORL_HUMAN|.	E|R	1137;1137;1137;1137;737|572	ENSP00000218147:K1137E;ENSP00000307541:K1137E;ENSP00000352253:K1137E;ENSP00000437775:K1137E;ENSP00000399483:K737E|.	ENSP00000218147:K1137E|.	K|Q	+|+	1|2	0|0	BCORL1|BCORL1	128977838|128977838	0.997000|0.997000	0.39634|0.39634	0.193000|0.193000	0.23327|0.23327	0.223000|0.223000	0.24884|0.24884	3.085000|3.085000	0.50151|0.50151	1.816000|1.816000	0.52996|0.52996	0.486000|0.486000	0.48141|0.48141	AAG|CAA		0.587	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		8	34	0	0	0	1	0	8	34					G	129150157	A	G	129150157	3	3	48	1	0	0	0	0	1	0	0	0	1387	131	5	4	3419	4	BCORL1	23	129150157	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	1212	129150157	26120403	4652	9120										
RBMX2	51634	broad.mit.edu	37	chrX	129545332	129545332	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttgcttagatcaaaggaaGaactatccgagtggatcatg	10	7	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129545332G>T	ENST00000305536.6	+	5	378	c.314G>T	c.(313-315)aGa>aTa	p.R105I	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	105	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						ATCAAAGGAAGAACTATCCGA	0.458																																						ENST00000305536.6																			0				breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(313-315)aGa>aTa		RNA binding motif protein, X-linked 2							152	139	143					X																	129545332		1921	4111	6032	SO:0001583	missense	51634						nucleotide binding|RNA binding	g.chrX:129545332G>T	AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"RNA binding motif (RRM) containing"	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.314G>T	X.37:g.129545332G>T	ENSP00000339090:p.Arg105Ile		Somatic				RBMX2_ENST00000469953.1_3'UTR	p.R105I	NM_016024.2	NP_057108.2	WXS	Illumina GAIIx	Phase_I	Q9Y388	RBMX2_HUMAN			5	378	+			105			RRM.		A8K9Z0|Q5JY82|Q9Y3I8	Missense_Mutation	SNP	ENST00000305536.6	37	c.314G>T	CCDS43993.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560660	0.86335	.	.	ENSG00000134597	ENST00000305536;ENST00000538614	T	0.79653	-1.29	5.13	5.13	0.70059	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.90950	0.7155	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92670	0.6149	10	0.87932	D	0	.	15.2568	0.73591	0.0:0.0:1.0:0.0	.	105	Q9Y388	RBMX2_HUMAN	I	105	ENSP00000339090:R105I	ENSP00000339090:R105I	R	+	2	0	RBMX2	129373013	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	8.487000	0.90454	2.281000	0.76405	0.529000	0.55759	AGA		0.458	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	NM_016024		6	97	1	0	0.00116845	1	0.00122532	6	97					T	129545332	G	T	129545332	3	4	48	1	0	0	0	0	1	0	0	0	13167	942	33	2	332	2	RBMX2	23	129545332	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	395175	129545332	25725228	4653	9121										
ENOX2	10495	broad.mit.edu	37	chrX	129768979	129768979	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttctttaagattttccaaCattttttccacctgtaactt	2	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129768979C>A	ENST00000370927.1	-	10	1506	c.1485G>T	c.(1483-1485)atG>atT	p.M495I	ENOX2_ENST00000394363.1_Missense_Mutation_p.M466I|ENOX2_ENST00000338144.3_Missense_Mutation_p.M495I|ENOX2_ENST00000370935.1_Missense_Mutation_p.M466I			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	495					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GATTTTCCAACATTTTTTCCA	0.368																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(1483-1485)atG>atT		ecto-NOX disulfide-thiol exchanger 2							131	109	117					X																	129768979		2202	4299	6501	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129768979C>A	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1485G>T	X.37:g.129768979C>A	ENSP00000359965:p.Met495Ile		Somatic				ENOX2_ENST00000394363.1_Missense_Mutation_p.M466I|ENOX2_ENST00000370935.1_Missense_Mutation_p.M466I|ENOX2_ENST00000370927.1_Missense_Mutation_p.M495I	p.M495I	NM_182314.1	NP_872114.1	WXS	Illumina GAIIx	Phase_I	Q16206	ENOX2_HUMAN			13	1902	-			495					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1485G>T	CCDS14626.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.03|12.03	1.814756|1.814756	0.32053|0.32053	.|.	.|.	ENSG00000165675|ENSG00000165675	ENST00000538435|ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	.|T;T	.|0.27557	.|1.66;1.66	5.05|5.05	4.11|4.11	0.48088|0.48088	.|.	.|0.264428	.|0.38272	.|N	.|0.001749	.|T	.|0.17109	.|0.0411	N|N	0.22421|0.22421	0.69|0.69	0.21697|0.21697	N|N	0.999588|0.999588	.|B;B	.|0.17038	.|0.02;0.02	.|B;B	.|0.15484	.|0.013;0.013	.|T	.|0.09840	.|-1.0656	.|9	.|.	.|.	.|.	.|-6.9641	6.3851|6.3851	0.21556|0.21556	0.0:0.8628:0.0:0.1372|0.0:0.8628:0.0:0.1372	.|.	.|495;523	.|Q16206;A4QPE1	.|ENOX2_HUMAN;.	.|I	-1|466;495;466;523;495	.|ENSP00000337146:M495I;ENSP00000359965:M495I	.|.	.|M	-|-	.|3	.|0	ENOX2|ENOX2	129596660|129596660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.278000|1.278000	0.33179|0.33179	2.335000|2.335000	0.79485|0.79485	0.600000|0.600000	0.82982|0.82982	.|ATG		0.368	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		9	20	1	0	5.4927e-09	1	6.54492e-09	9	20					A	129768979	C	A	129768979	3	1	48	1	0	0	0	0	1	0	0	0	5129	478	17	5	363	5	ENOX2	23	129768979	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	223647	129768979	25501581	4654	9122										
ENOX2	10495	broad.mit.edu	37	chrX	129843233	129843233	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttacctgcatagcctatttcGtagacccacagccatctaaa	5	13	1	1	rs374071821		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129843233G>A	ENST00000370927.1	-	1	54	c.33C>T	c.(31-33)taC>taT	p.Y11Y	ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000394363.1_Intron|ENOX2_ENST00000338144.3_Silent_p.Y11Y|ENOX2_ENST00000370935.1_Intron			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	11					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						AGCCTATTTCGTAGACCCACA	0.413													A|||	1	0.000264901	0	0.0014	3775	,	,		5135	0		0	False		,,,				2504	0				Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(31-33)taC>taT		ecto-NOX disulfide-thiol exchanger 2		A	,	0,3835		0,0,1632,571	188	144	159		,33	2.9	0.3	X		159	1,6727		0,1,2427,1872	no	intron,coding-synonymous	ENOX2	NM_006375.2,NM_182314.1	,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,	,11/611	129843233	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129843233G>A	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.33C>T	X.37:g.129843233G>A			Somatic				ENOX2_ENST00000394363.1_Intron|ENOX2_ENST00000370935.1_Intron|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370927.1_Silent_p.Y11Y	p.Y11Y	NM_182314.1	NP_872114.1	WXS	Illumina GAIIx	Phase_I	Q16206	ENOX2_HUMAN			4	450	-			11					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Silent	SNP	ENST00000370927.1	37	c.33C>T	CCDS14626.1																																																																																				0.413	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		28	38	0	0	0	1	0	28	38					A	129843233	G	A	129843233	2	1	48	1	0	0	0	0	0	0	0	1	5129	1140	40	1		1	ENOX2	23	129843233	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	74254	129843233	25427327	4655	9123										
IGSF1	3547	broad.mit.edu	37	chrX	130412665	130412665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agagggttaagttcttccacGgggccagaggaaagttggtc	15	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:130412665G>A	ENST00000361420.3	-	12	1890	c.1811C>T	c.(1810-1812)cCg>cTg	p.P604L	IGSF1_ENST00000370903.3_Missense_Mutation_p.P609L|IGSF1_ENST00000370910.1_Missense_Mutation_p.P595L|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370904.1_Missense_Mutation_p.P595L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	604	Ig-like C2-type 6.				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						GTTCTTCCACGGGGCCAGAGG	0.557																																						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.(1783-1785)cCg>cTg		immunoglobulin superfamily, member 1							66	66	66					X																	130412665		2203	4297	6500	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130412665G>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.1811C>T	X.37:g.130412665G>A	ENSP00000355010:p.Pro604Leu		Somatic				IGSF1_ENST00000361420.3_Missense_Mutation_p.P604L|IGSF1_ENST00000370903.3_Missense_Mutation_p.P609L|IGSF1_ENST00000370910.1_Missense_Mutation_p.P595L	p.P595L			WXS	Illumina GAIIx	Phase_I	Q8N6C5	IGSF1_HUMAN			18	2694	-			604			Ig-like C2-type 6.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.1784C>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	g	13.40	2.226799	0.39399	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	5.09	5.09	0.68999	Immunoglobulin-like fold (1);	0.393007	0.21963	N	0.066577	T	0.31231	0.0790	L	0.54863	1.705	0.45962	D	0.998787	D;D;D	0.89917	0.987;1.0;1.0	P;D;D	0.97110	0.891;1.0;0.998	T	0.00814	-1.1555	10	0.38643	T	0.18	.	13.1782	0.59639	0.0:0.0:1.0:0.0	.	595;48;604	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	L	595;604;595;609	ENSP00000359947:P595L;ENSP00000355010:P604L;ENSP00000359941:P595L;ENSP00000359940:P609L	ENSP00000355010:P604L	P	-	2	0	IGSF1	130240346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.051000	0.49885	2.262000	0.75019	0.597000	0.82753	CCG		0.557	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			39	100	0	0	0	1	0	39	100					A	130412665	G	A	130412665	3	1	48	1	0	0	0	0	1	0	0	0	7605	1116	39	1	2235	1	IGSF1	23	130412665	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	569432	130412665	24857895	4656	9124										
IGSF1	3547	broad.mit.edu	37	chrX	130417108	130417108	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcttgtggtaaaaggacttCtccaagtcttcaaccctcat	6	11	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:130417108C>A	ENST00000361420.3	-	6	877	c.798G>T	c.(796-798)gaG>gaT	p.E266D	IGSF1_ENST00000370903.3_Missense_Mutation_p.E266D|IGSF1_ENST00000370910.1_Missense_Mutation_p.E257D|IGSF1_ENST00000370904.1_Missense_Mutation_p.E257D			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	266	Ig-like C2-type 3.				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						AAAAGGACTTCTCCAAGTCTT	0.428																																						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.(769-771)gaG>gaT		immunoglobulin superfamily, member 1							105	94	98					X																	130417108		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:130417108C>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.798G>T	X.37:g.130417108C>A	ENSP00000355010:p.Glu266Asp		Somatic				IGSF1_ENST00000361420.3_Missense_Mutation_p.E266D|IGSF1_ENST00000370903.3_Missense_Mutation_p.E266D|IGSF1_ENST00000370910.1_Missense_Mutation_p.E257D	p.E257D			WXS	Illumina GAIIx	Phase_I	Q8N6C5	IGSF1_HUMAN			12	1681	-			266			Ig-like C2-type 3.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.771G>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	4.846	0.157299	0.09236	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00724	5.78;5.78;5.78;5.78	4.46	2.65	0.31530	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.984718	0.08272	N	0.971318	T	0.00936	0.0031	L	0.41906	1.305	0.09310	N	1	B;B	0.30824	0.006;0.296	B;B	0.33846	0.021;0.171	T	0.49952	-0.8884	10	0.25106	T	0.35	.	4.9039	0.13788	0.2085:0.6789:0.0:0.1126	.	257;266	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	D	257;266;257;266	ENSP00000359947:E257D;ENSP00000355010:E266D;ENSP00000359941:E257D;ENSP00000359940:E266D	ENSP00000355010:E266D	E	-	3	2	IGSF1	130244789	0.998000	0.40836	0.193000	0.23327	0.854000	0.48673	1.239000	0.32719	0.448000	0.26722	0.594000	0.82650	GAG		0.428	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			26	52	1	0	1.66031e-10	1	2.0393e-10	26	52					A	130417108	C	A	130417108	3	1	48	1	0	0	0	0	1	0	0	0	7605	912	32	2	3287	2	IGSF1	23	130417108	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	4443	130417108	24853452	4657	9125										
OR13H1	347468	broad.mit.edu	37	chrX	130678387	130678387	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tggccacagcagagtgcctcCtactggctgccatggcctat	11	14	0	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:130678387C>A	ENST00000338616.3	+	1	438	c.340C>A	c.(340-342)Cta>Ata	p.L114I		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	114						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)					AGAGTGCCTCCTACTGGCTGC	0.522																																						ENST00000338616.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(340-342)Cta>Ata		olfactory receptor, family 13, subfamily H, member 1							153	123	133					X																	130678387		2203	4300	6503	SO:0001583	missense	347468				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chrX:130678387C>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.340C>A	X.37:g.130678387C>A	ENSP00000340748:p.Leu114Ile		Somatic					p.L114I	NM_001004486.1	NP_001004486.1	WXS	Illumina GAIIx	Phase_I	Q8NG92	O13H1_HUMAN			1	438	+	Acute lymphoblastic leukemia(192;0.000636)		114					B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	37	c.340C>A	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608311	0.28623	.	.	ENSG00000171054	ENST00000338616	T	0.03496	3.91	4.87	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30911	U	0.008635	T	0.09642	0.0237	L	0.58583	1.82	0.09310	N	1	D	0.76494	0.999	D	0.67231	0.95	T	0.12630	-1.0540	10	0.62326	D	0.03	.	2.7194	0.05196	0.2297:0.5185:0.0:0.2518	.	114	Q8NG92	O13H1_HUMAN	I	114	ENSP00000340748:L114I	ENSP00000340748:L114I	L	+	1	2	OR13H1	130506068	0.060000	0.20803	0.011000	0.14972	0.006000	0.05464	0.237000	0.17985	1.051000	0.40369	0.600000	0.82982	CTA		0.522	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1			38	83	1	0	1.90571e-15	1	2.51191e-15	38	83					A	130678387	C	A	130678387	3	1	48	1	0	0	0	0	1	0	0	0	10952	680	24	5	342	5	OR13H1	23	130678387	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	261279	130678387	24592173	4658	9126										
HS6ST2	90161	broad.mit.edu	37	chrX	132091120	132091120	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggtcatcgcccttgatgtcGaagtctaccttgcgcaggag	12	11	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:132091120G>A	ENST00000370836.2	-	3	1078	c.663C>T	c.(661-663)ttC>ttT	p.F221F	HS6ST2_ENST00000521489.1_Silent_p.F221F|HS6ST2_ENST00000370833.2_Silent_p.F75F	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	221					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)					CCTTGATGTCGAAGTCTACCT	0.637																																						ENST00000370836.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9						c.(661-663)ttC>ttT		heparan sulfate 6-O-sulfotransferase 2							36	41	39					X																	132091120		2160	4258	6418	SO:0001819	synonymous_variant	90161					integral to membrane	sulfotransferase activity	g.chrX:132091120G>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.663C>T	X.37:g.132091120G>A			Somatic				HS6ST2_ENST00000521489.1_Silent_p.F221F|HS6ST2_ENST00000370833.2_Silent_p.F75F|HS6ST2_ENST00000370837.1_Silent_p.F75F	p.F221F	NM_147175.3	NP_671704.3	WXS	Illumina GAIIx	Phase_I	Q96MM7	H6ST2_HUMAN			3	1078	-	Acute lymphoblastic leukemia(192;0.000127)		221					B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Silent	SNP	ENST00000370836.2	37	c.663C>T	CCDS48169.1																																																																																				0.637	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174		20	32	0	0	0	1	0	20	32					A	132091120	G	A	132091120	2	1	48	1	0	0	0	0	0	0	0	1	7380	1049	37	1		1	HS6ST2	23	132091120	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	1412733	132091120	23179440	4659	9127										
GPC4	2239	broad.mit.edu	37	chrX	132437257	132437257	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catcttgctggtcatcactcGaagagccatgatttgacgaa	9	10	3	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:132437257G>A	ENST00000370828.3	-	8	1929	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	GPC4_ENST00000535467.1_Nonsense_Mutation_p.R399*	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	469					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)					GTCATCACTCGAAGAGCCATG	0.453																																						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.(1405-1407)Cga>Tga		glypican 4							251	193	213					X																	132437257		2203	4300	6503	SO:0001587	stop_gained	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:132437257G>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.1405C>T	X.37:g.132437257G>A	ENSP00000359864:p.Arg469*		Somatic				GPC4_ENST00000535467.1_Nonsense_Mutation_p.R399*	p.R469*	NM_001448.2	NP_001439.2	WXS	Illumina GAIIx	Phase_I	O75487	GPC4_HUMAN			8	1929	-	Acute lymphoblastic leukemia(192;0.000127)		469					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Nonsense_Mutation	SNP	ENST00000370828.3	37	c.1405C>T	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	g	41	8.819722	0.98966	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	.	.	.	5.62	3.84	0.44239	.	0.257416	0.39475	N	0.001346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7113	8.2546	0.31748	0.076:0.0:0.6473:0.2767	.	.	.	.	X	469;463;399	.	ENSP00000359864:R469X	R	-	1	2	GPC4	132264923	1.000000	0.71417	0.972000	0.41901	0.953000	0.61014	4.363000	0.59473	0.531000	0.28639	0.597000	0.82753	CGA		0.453	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		35	80	0	0	0	1	0	35	80					A	132437257	G	A	132437257	4	1	48	1	0	0	0	0	0	1	0	0	6608	1066	37	1	273	1	GPC4	23	132437257	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	346137	132437257	22833303	4660	9128										
PHF6	84295	broad.mit.edu	37	chrX	133527538	133527538	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgttttgctgtagatgtgttCtttgtgccattgtcctggag	12	7	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:133527538C>A	ENST00000332070.3	+	4	450	c.248C>A	c.(247-249)tCt>tAt	p.S83Y	PHF6_ENST00000394292.1_Missense_Mutation_p.S83Y|PHF6_ENST00000416404.2_Missense_Mutation_p.S49Y|PHF6_ENST00000370800.4_Missense_Mutation_p.S83Y|PHF6_ENST00000370803.3_Missense_Mutation_p.S83Y|PHF6_ENST00000370799.1_Missense_Mutation_p.S83Y	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	83	Extended PHD1 domain (ePHD1).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TAGATGTGTTCTTTGTGCCAT	0.368			"F, N, Splice, Mis"		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	ENST00000332070.3				Rec	yes		X	Xq26.3	84295	"F, N, Splice, Mis"	PHD finger protein 6			L			ETP ALL		0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103						c.(247-249)tCt>tAt		PHD finger protein 6							204	177	186					X																	133527538		2203	4300	6503	SO:0001583	missense	84295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	g.chrX:133527538C>A	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"Zinc fingers, PHD-type"	18145	protein-coding gene	gene with protein product	"centromere protein 31"	300414	"Borjeson-Forssman-Lehmann syndrome"	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.248C>A	X.37:g.133527538C>A	ENSP00000329097:p.Ser83Tyr		Somatic				PHF6_ENST00000416404.2_Missense_Mutation_p.S49Y|PHF6_ENST00000370803.3_Missense_Mutation_p.S83Y|PHF6_ENST00000370800.4_Missense_Mutation_p.S83Y|PHF6_ENST00000370799.1_Missense_Mutation_p.S83Y|PHF6_ENST00000394292.1_Missense_Mutation_p.S83Y	p.S83Y	NM_032458.2	NP_115834.1	WXS	Illumina GAIIx	Phase_I	Q8IWS0	PHF6_HUMAN			4	450	+	Acute lymphoblastic leukemia(192;0.000127)		83					A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	ENST00000332070.3	37	c.248C>A	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880054	0.72294	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	5.15	5.15	0.70609	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.050577	0.85682	D	0.000000	T	0.78666	0.4319	L	0.58969	1.84	0.80722	D	1	D;B;D;D;D	0.76494	0.995;0.242;0.996;0.996;0.999	D;B;D;D;D	0.69824	0.929;0.326;0.948;0.948;0.966	T	0.73748	-0.3885	10	0.07030	T	0.85	-13.2134	16.9007	0.86113	0.0:1.0:0.0:0.0	.	49;83;83;83;83	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	Y	83;83;83;83;49;83	ENSP00000359839:S83Y;ENSP00000329097:S83Y;ENSP00000377831:S83Y;ENSP00000359835:S83Y;ENSP00000394480:S49Y;ENSP00000359836:S83Y	ENSP00000329097:S83Y	S	+	2	0	PHF6	133355204	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.445000	0.80570	2.284000	0.76573	0.523000	0.50628	TCT		0.368	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458		40	60	1	0	9.39024e-22	1	1.29924e-21	40	60					A	133527538	C	A	133527538	3	1	48	1	0	0	0	0	1	0	0	0	11847	913	32	2	258	2	PHF6	23	133527538	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1090281	133527538	21743022	4661	9129										
FAM122B	159090	broad.mit.edu	37	chrX	133922766	133922766	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtcagttatcctacctttccGaatcccctggtgggtgaagg	11	11	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:133922766G>A	ENST00000370790.1	-	5	1300	c.372C>T	c.(370-372)ttC>ttT	p.F124F	FAM122B_ENST00000343004.5_Silent_p.F143F|FAM122B_ENST00000486347.1_Silent_p.F124F|FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000298090.6_Silent_p.F143F	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	124										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					CTACCTTTCCGAATCCCCTGG	0.398																																						ENST00000370790.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6						c.(370-372)ttC>ttT		family with sequence similarity 122B							88	78	81					X																	133922766		2203	4300	6503	SO:0001819	synonymous_variant	159090							g.chrX:133922766G>A	BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.372C>T	X.37:g.133922766G>A			Somatic				FAM122B_ENST00000298090.6_Silent_p.F143F|FAM122B_ENST00000486347.1_Silent_p.F124F|FAM122B_ENST00000343004.5_Silent_p.F143F|FAM122B_ENST00000493333.1_5'UTR	p.F124F	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	WXS	Illumina GAIIx	Phase_I	Q7Z309	F122B_HUMAN			5	1300	-	Acute lymphoblastic leukemia(192;0.000127)		124					A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Silent	SNP	ENST00000370790.1	37	c.372C>T	CCDS55497.1																																																																																				0.398	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058382.1	NM_145284		9	35	0	0	0	1	0	9	35					A	133922766	G	A	133922766	2	1	48	1	0	0	0	0	0	0	0	1	5425	1049	37	1		1	FAM122B	23	133922766	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	395228	133922766	21347794	4662	9130										
FAM122C	159091	broad.mit.edu	37	chrX	133988254	133988254	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcatttgttctagtagacaAactttcaactaaatgattca	4	8	4	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:133988254A>G	ENST00000370784.4	+	7	982	c.576A>G	c.(574-576)caA>caG	p.Q192Q	FAM122C_ENST00000370785.3_3'UTR|FAM122C_ENST00000445123.1_3'UTR	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	192										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					CTAGTAGACAAACTTTCAACT	0.418																																						ENST00000370784.4																			0				endometrium(2)|kidney(1)|lung(2)	5						c.(574-576)caA>caG		family with sequence similarity 122C							159	110	125					X																	133988254		692	1591	2283	SO:0001819	synonymous_variant	159091							g.chrX:133988254A>G	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.576A>G	X.37:g.133988254A>G			Somatic				FAM122C_ENST00000370785.3_3'UTR|FAM122C_ENST00000445123.1_3'UTR	p.Q192Q	NM_001170779.1	NP_001164250.1	WXS	Illumina GAIIx	Phase_I	Q6P4D5	F222C_HUMAN			7	982	+	Acute lymphoblastic leukemia(192;0.000127)		192					F5H036|Q8WVK9	Silent	SNP	ENST00000370784.4	37	c.576A>G	CCDS55501.1																																																																																				0.418	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819		8	10	0	0	0	1	0	8	10					G	133988254	A	G	133988254	2	3	48	1	0	0	0	0	0	0	0	1	5426	11	1	4		4	FAM122C	23	133988254	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	65488	133988254	21282306	4663	9131										
ZNF75D	7626	broad.mit.edu	37	chrX	134427749	134427749	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgatgcttctgcacccagttCtgggtctccttgggcagaat	11	11	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134427749C>A	ENST00000370766.3	-	3	3027	c.318G>T	c.(316-318)caG>caT	p.Q106H	ZNF75D_ENST00000370764.1_Missense_Mutation_p.Q106H|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	106	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCACCCAGTTCTGGGTCTCCT	0.502																																						ENST00000370766.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(316-318)caG>caT		zinc finger protein 75D							83	76	78					X																	134427749		2203	4300	6503	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134427749C>A	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"Zinc fingers, C2H2-type", "-", "-", "-"	13145	protein-coding gene	gene with protein product		314997	"zinc finger protein 75 (D8C6)"	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.318G>T	X.37:g.134427749C>A	ENSP00000359802:p.Gln106His		Somatic				ZNF75D_ENST00000370764.1_Missense_Mutation_p.Q106H|ZNF75D_ENST00000494295.1_Intron	p.Q106H	NM_007131.3	NP_009062.2	WXS	Illumina GAIIx	Phase_I	P51815	ZN75D_HUMAN			3	3027	-			106			SCAN box.		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.318G>T	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	C	8.458	0.854676	0.17106	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.05786	3.39;3.39	3.13	1.33	0.21861	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.27866	0.0686	H	0.94542	3.55	0.09310	N	1	D;D	0.71674	0.998;0.995	D;D	0.69307	0.963;0.933	T	0.07770	-1.0755	9	0.87932	D	0	.	4.8224	0.13398	0.0:0.6915:0.0:0.3085	.	106;106	P51815;A6NK62	ZN75D_HUMAN;.	H	106	ENSP00000359802:Q106H;ENSP00000359800:Q106H	ENSP00000359800:Q106H	Q	-	3	2	ZNF75D	134255415	0.915000	0.31059	0.001000	0.08648	0.184000	0.23303	3.697000	0.54764	0.228000	0.21019	0.509000	0.49947	CAG		0.502	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		36	82	1	0	3.6622e-26	1	5.17531e-26	36	82					A	134427749	C	A	134427749	3	1	48	1	0	0	0	0	1	0	0	0	18149	912	32	2	1234	2	ZNF75D	23	134427749	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	439495	134427749	20842811	4664	9132										
ZNF449	203523	broad.mit.edu	37	chrX	134494128	134494128	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cttctctcaggttttgagatCgggatagaaaatgaagaaga	11	5	2	5	rs144200813		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134494128C>T	ENST00000339249.4	+	5	824	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	228					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)					GTTTTGAGATCGGGATAGAAA	0.363													C|||	1	0.000264901	0	0	3775	,	,		12738	0		0	False		,,,				2504	0.001					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.(682-684)atC>atT		zinc finger protein 449							28	30	29					X																	134494128		2179	4215	6394	SO:0001819	synonymous_variant	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494128C>T	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.684C>T	X.37:g.134494128C>T			Somatic					p.I228I	NM_152695.5	NP_689908.3	WXS	Illumina GAIIx	Phase_I	Q6P9G9	ZN449_HUMAN			5	824	+	Acute lymphoblastic leukemia(192;6.56e-05)		228					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Silent	SNP	ENST00000339249.4	37	c.684C>T	CCDS14649.1																																																																																				0.363	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		22	36	0	0	0	1	0	22	36					T	134494128	C	T	134494128	2	4	48	1	0	0	0	0	0	0	0	1	17935	874	31	1		1	ZNF449	23	134494128	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	66379	134494128	20776432	4665	9133										
ZNF449	203523	broad.mit.edu	37	chrX	134494612	134494612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tatgtaaaaagcgattcactCggcggtcacatcttataggg	10	8	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134494612C>T	ENST00000339249.4	+	5	1308	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	390					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)					GCGATTCACTCGGCGGTCACA	0.413																																						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.(1168-1170)Cgg>Tgg		zinc finger protein 449							99	98	98					X																	134494612		2203	4298	6501	SO:0001583	missense	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494612C>T	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.1168C>T	X.37:g.134494612C>T	ENSP00000339585:p.Arg390Trp		Somatic					p.R390W	NM_152695.5	NP_689908.3	WXS	Illumina GAIIx	Phase_I	Q6P9G9	ZN449_HUMAN			5	1308	+	Acute lymphoblastic leukemia(192;6.56e-05)		390					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	c.1168C>T	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	C	8.224	0.803065	0.16397	.	.	ENSG00000173275	ENST00000339249	T	0.07444	3.19	4.57	1.43	0.22495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40385	N	0.001116	T	0.14485	0.0350	L	0.46819	1.47	0.09310	N	1	D	0.89917	1.0	P	0.59056	0.851	T	0.03364	-1.1044	10	0.72032	D	0.01	.	7.5036	0.27532	0.3189:0.5267:0.1544:0.0	.	390	Q6P9G9	ZN449_HUMAN	W	390	ENSP00000339585:R390W	ENSP00000339585:R390W	R	+	1	2	ZNF449	134322278	0.000000	0.05858	0.549000	0.28204	0.381000	0.30169	0.136000	0.15974	0.435000	0.26365	0.529000	0.55759	CGG		0.413	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		43	80	0	0	0	1	0	43	80					T	134494612	C	T	134494612	3	4	48	1	0	0	0	0	1	0	0	0	17935	875	31	1	1182	1	ZNF449	23	134494612	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	484	134494612	20775948	4666	9134										
DDX26B	203522	broad.mit.edu	37	chrX	134713730	134713730	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagatgctactatcattcacGatggccatgaggagaagatg	11	8	2	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134713730G>T	ENST00000370752.4	+	15	2360	c.2026G>T	c.(2026-2028)Gat>Tat	p.D676Y	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	676										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TATCATTCACGATGGCCATGA	0.428																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(2026-2028)Gat>Tat		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							80	76	77					X																	134713730		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134713730G>T	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.2026G>T	X.37:g.134713730G>T	ENSP00000359788:p.Asp676Tyr		Somatic				DDX26B_ENST00000493637.1_3'UTR	p.D676Y	NM_182540.4	NP_872346.3	WXS	Illumina GAIIx	Phase_I	Q5JSJ4	DX26B_HUMAN			15	2360	+	Acute lymphoblastic leukemia(192;6.56e-05)		676					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.2026G>T	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	g	3.542	-0.093517	0.07053	.	.	ENSG00000165359	ENST00000370752	T	0.34072	1.38	5.67	2.94	0.34122	.	0.315023	0.38058	N	0.001829	T	0.34745	0.0908	L	0.50333	1.59	0.09310	N	0.999995	P;B	0.41041	0.736;0.003	B;B	0.42214	0.38;0.01	T	0.16453	-1.0402	10	0.72032	D	0.01	-3.9649	10.4402	0.44462	0.2201:0.0:0.7799:0.0	.	676;676	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	Y	676	ENSP00000359788:D676Y	ENSP00000359788:D676Y	D	+	1	0	DDX26B	134541396	0.998000	0.40836	0.019000	0.16419	0.004000	0.04260	3.196000	0.51020	0.266000	0.21894	-0.879000	0.02964	GAT		0.428	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		19	50	1	0	4.96729e-08	1	5.79844e-08	19	50					T	134713730	G	T	134713730	3	4	48	1	0	0	0	0	1	0	0	0	4355	1058	37	2	2084	2	DDX26B	23	134713730	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	219118	134713730	20556830	4667	9135										
DDX26B	203522	broad.mit.edu	37	chrX	134714991	134714991	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagaatatgaaagaattttCattttgcttgaagaagtgca	8	4	2	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134714991C>A	ENST00000370752.4	+	16	2734	c.2400C>A	c.(2398-2400)ttC>ttA	p.F800L	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	800										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGAATTTTCATTTTGCTTG	0.308																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(2398-2400)ttC>ttA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							27	25	26					X																	134714991		2202	4299	6501	SO:0001583	missense	203522							g.chrX:134714991C>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.2400C>A	X.37:g.134714991C>A	ENSP00000359788:p.Phe800Leu		Somatic				DDX26B_ENST00000493637.1_3'UTR	p.F800L	NM_182540.4	NP_872346.3	WXS	Illumina GAIIx	Phase_I	Q5JSJ4	DX26B_HUMAN			16	2734	+	Acute lymphoblastic leukemia(192;6.56e-05)		800					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.2400C>A	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184962	0.38609	.	.	ENSG00000165359	ENST00000370752	T	0.35048	1.33	4.5	4.5	0.54988	.	0.097045	0.64402	D	0.000001	T	0.34250	0.0891	L	0.58354	1.805	0.39242	D	0.963888	B;B	0.19200	0.008;0.034	B;B	0.20384	0.02;0.029	T	0.20273	-1.0280	10	0.32370	T	0.25	-10.6301	11.7686	0.51945	0.0:0.905:0.0:0.095	.	800;800	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	L	800	ENSP00000359788:F800L	ENSP00000359788:F800L	F	+	3	2	DDX26B	134542657	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.300000	0.43620	2.157000	0.67596	0.594000	0.82650	TTC		0.308	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		5	13	1	0	1.23904e-05	1	1.36503e-05	5	13					A	134714991	C	A	134714991	3	1	48	1	0	0	0	0	1	0	0	0	4355	825	29	2	2462	2	DDX26B	23	134714991	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1261	134714991	20555569	4668	9136										
SAGE1	55511	broad.mit.edu	37	chrX	134991921	134991921	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtagctggtattccggccaTgagtaccagggatcagtgta	13	8	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134991921T>C	ENST00000370709.3	+	13	1706	c.1706T>C	c.(1705-1707)aTg>aCg	p.M569T	SAGE1_ENST00000324447.3_Missense_Mutation_p.M569T|SAGE1_ENST00000537770.1_Missense_Mutation_p.M193T|SAGE1_ENST00000535938.1_Missense_Mutation_p.M569T			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	569						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)					ATTCCGGCCATGAGTACCAGG	0.413																																						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.(1705-1707)aTg>aCg		sarcoma antigen 1							148	127	135					X																	134991921		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134991921T>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.1706T>C	X.37:g.134991921T>C	ENSP00000359743:p.Met569Thr		Somatic				SAGE1_ENST00000324447.3_Missense_Mutation_p.M569T|SAGE1_ENST00000537770.1_Missense_Mutation_p.M193T|SAGE1_ENST00000370709.3_Missense_Mutation_p.M569T	p.M569T	NM_018666.2	NP_061136.2	WXS	Illumina GAIIx	Phase_I	Q9NXZ1	SAGE1_HUMAN			14	1873	+	Acute lymphoblastic leukemia(192;0.000127)		569					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.1706T>C	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	T	5.423	0.263109	0.10294	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.36157	1.42;1.42;1.27;1.42	0.466	-0.932	0.10435	.	0.229586	0.34828	U	0.003654	T	0.18718	0.0449	N	0.24115	0.695	0.09310	N	1	B;B	0.32753	0.018;0.383	B;B	0.36186	0.042;0.219	T	0.20505	-1.0273	9	0.20519	T	0.43	.	.	.	.	.	193;569	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	T	569;569;193;569	ENSP00000323191:M569T;ENSP00000445959:M569T;ENSP00000438276:M193T;ENSP00000359743:M569T	ENSP00000323191:M569T	M	+	2	0	SAGE1	134819587	0.058000	0.20735	0.007000	0.13788	0.011000	0.07611	-0.079000	0.11357	-0.687000	0.05162	0.218000	0.17770	ATG		0.413	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		17	114	0	0	0	1	0	17	114					C	134991921	T	C	134991921	3	2	48	1	0	0	0	0	1	0	0	0	13824	1464	51	4	1756	4	SAGE1	23	134991921	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	276930	134991921	20278639	4669	9137										
SAGE1	55511	broad.mit.edu	37	chrX	134995041	134995041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catctcagaaaagttaagcaCatgagaaaaagataattgtg	8	5	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134995041C>T	ENST00000370709.3	+	19	2700	c.2700C>T	c.(2698-2700)caC>caT	p.H900H	SAGE1_ENST00000324447.3_Silent_p.H900H|SAGE1_ENST00000537770.1_Silent_p.H524H|SAGE1_ENST00000535938.1_Silent_p.H900H			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	900						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)					AAGTTAAGCACATGAGAAAAA	0.378																																						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.(2698-2700)caC>caT		sarcoma antigen 1							41	35	37					X																	134995041		2203	4300	6503	SO:0001819	synonymous_variant	55511							g.chrX:134995041C>T	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.2700C>T	X.37:g.134995041C>T			Somatic				SAGE1_ENST00000324447.3_Silent_p.H900H|SAGE1_ENST00000537770.1_Silent_p.H524H|SAGE1_ENST00000370709.3_Silent_p.H900H	p.H900H	NM_018666.2	NP_061136.2	WXS	Illumina GAIIx	Phase_I	Q9NXZ1	SAGE1_HUMAN			20	2867	+	Acute lymphoblastic leukemia(192;0.000127)		900					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.2700C>T	CCDS14652.1																																																																																				0.378	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		3	16	0	0	0	1	0	3	16					T	134995041	C	T	134995041	2	4	48	1	0	0	0	0	0	0	0	1	13824	477	17	3		3	SAGE1	23	134995041	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3120	134995041	20275519	4670	9138										
SLC9A6	10479	broad.mit.edu	37	chrX	135104832	135104832	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaagtaagattggatcaaatTttcaacacatgatgatgttt	8	4	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135104832T>G	ENST00000370698.3	+	11	1377	c.1342T>G	c.(1342-1344)Ttt>Gtt	p.F448V	SLC9A6_ENST00000370701.1_Missense_Mutation_p.F428V|SLC9A6_ENST00000370695.4_Missense_Mutation_p.F480V	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	448					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGGATCAAATTTTCAACACAT	0.378																																						ENST00000370695.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(1438-1440)Ttt>Gtt		solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6							141	110	120					X																	135104832		2203	4300	6503	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135104832T>G	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1342T>G	X.37:g.135104832T>G	ENSP00000359732:p.Phe448Val		Somatic				SLC9A6_ENST00000370701.1_Missense_Mutation_p.F428V|SLC9A6_ENST00000370698.3_Missense_Mutation_p.F448V	p.F480V	NM_001042537.1	NP_001036002.1	WXS	Illumina GAIIx	Phase_I	Q92581	SL9A6_HUMAN			11	1473	+	Acute lymphoblastic leukemia(192;0.000127)		448					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.1438T>G	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.015294	0.54468	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.15256	2.44;2.44;2.44	5.5	5.5	0.81552	Cation/H+ exchanger (1);	0.046124	0.85682	D	0.000000	T	0.26666	0.0652	M	0.74881	2.28	0.58432	D	0.999997	B;B	0.23058	0.059;0.079	B;B	0.35899	0.025;0.213	T	0.07028	-1.0794	10	0.56958	D	0.05	.	9.876	0.41205	0.0:0.0832:0.0:0.9168	.	480;448	Q92581-2;Q92581	.;SL9A6_HUMAN	V	428;448;480	ENSP00000359735:F428V;ENSP00000359732:F448V;ENSP00000359729:F480V	ENSP00000359729:F480V	F	+	1	0	SLC9A6	134932498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.861000	0.56002	1.837000	0.53436	0.486000	0.48141	TTT		0.378	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		11	33	0	0	0	1	0	11	33					G	135104832	T	G	135104832	3	3	48	1	0	0	0	0	1	0	0	0	14733	1841	64	4	1480	4	SLC9A6	23	135104832	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	109791	135104832	20165728	4671	9139										
GPR112	139378	broad.mit.edu	37	chrX	135426790	135426790	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttaaagacactggtagatGagacagctacatttgcagtg	10	7	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135426790G>T	ENST00000394143.1	+	6	1216	c.925G>T	c.(925-927)Gag>Tag	p.E309*	GPR112_ENST00000370652.1_Nonsense_Mutation_p.E309*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.E104*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.E246*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.E104*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	309					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)					ACTGGTAGATGAGACAGCTAC	0.368																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(925-927)Gag>Tag		G protein-coupled receptor 112							137	117	123					X																	135426790		2203	4300	6503	SO:0001587	stop_gained	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135426790G>T	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.925G>T	X.37:g.135426790G>T	ENSP00000377699:p.Glu309*		Somatic				GPR112_ENST00000287534.4_Nonsense_Mutation_p.E246*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.E309*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.E104*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.E104*	p.E309*	NM_153834.3	NP_722576.3	WXS	Illumina GAIIx	Phase_I	Q8IZF6	GP112_HUMAN			6	1216	+	Acute lymphoblastic leukemia(192;0.000127)		309					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Nonsense_Mutation	SNP	ENST00000394143.1	37	c.925G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	25.2	4.613460	0.87359	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	.	.	.	4.18	1.32	0.21799	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.26	0.06845	0.2582:0.2216:0.5201:0.0	.	.	.	.	X	309;309;104;246;104	.	ENSP00000287534:E246X	E	+	1	0	GPR112	135254456	0.000000	0.05858	0.007000	0.13788	0.054000	0.15201	-0.217000	0.09253	0.324000	0.23333	0.502000	0.49764	GAG		0.368	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			17	66	1	0	1.99824e-07	1	2.29918e-07	17	66					T	135426790	G	T	135426790	4	4	48	1	0	0	0	0	0	1	0	0	6637	1291	45	2	935	2	GPR112	23	135426790	Nonsense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	321958	135426790	19843770	4672	9140										
GPR112	139378	broad.mit.edu	37	chrX	135430316	135430316	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttacagttctctccgacaGgatcactacagccttttctg	6	12	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135430316G>T	ENST00000394143.1	+	6	4742	c.4451G>T	c.(4450-4452)aGg>aTg	p.R1484M	GPR112_ENST00000370652.1_Missense_Mutation_p.R1484M|GPR112_ENST00000394141.1_Missense_Mutation_p.R1279M|GPR112_ENST00000287534.4_Missense_Mutation_p.R1421M|GPR112_ENST00000412101.1_Missense_Mutation_p.R1279M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1484					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)					CTCTCCGACAGGATCACTACA	0.443																																						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.(4450-4452)aGg>aTg		G protein-coupled receptor 112							99	97	98					X																	135430316		2203	4299	6502	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430316G>T	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.4451G>T	X.37:g.135430316G>T	ENSP00000377699:p.Arg1484Met		Somatic				GPR112_ENST00000287534.4_Missense_Mutation_p.R1421M|GPR112_ENST00000370652.1_Missense_Mutation_p.R1484M|GPR112_ENST00000412101.1_Missense_Mutation_p.R1279M|GPR112_ENST00000394141.1_Missense_Mutation_p.R1279M	p.R1484M	NM_153834.3	NP_722576.3	WXS	Illumina GAIIx	Phase_I	Q8IZF6	GP112_HUMAN			6	4742	+	Acute lymphoblastic leukemia(192;0.000127)		1484					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.4451G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	13.67	2.305652	0.40795	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29917	1.59;1.59;1.55;1.69;1.55	2.81	0.936	0.19488	.	.	.	.	.	T	0.26484	0.0647	L	0.27053	0.805	0.09310	N	1	P;P;P	0.49447	0.924;0.924;0.875	P;P;B	0.50192	0.634;0.634;0.431	T	0.12016	-1.0564	9	0.62326	D	0.03	.	5.4267	0.16429	0.3195:0.0:0.6805:0.0	.	1421;1279;1484	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	M	1484;1484;1279;1421;1279	ENSP00000377699:R1484M;ENSP00000359686:R1484M;ENSP00000416526:R1279M;ENSP00000287534:R1421M;ENSP00000377697:R1279M	ENSP00000287534:R1421M	R	+	2	0	GPR112	135257982	0.002000	0.14202	0.001000	0.08648	0.222000	0.24845	0.983000	0.29552	-0.015000	0.14150	0.464000	0.42555	AGG		0.443	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			13	114	1	0	7.93312e-07	1	8.98086e-07	13	114					T	135430316	G	T	135430316	3	4	48	1	0	0	0	0	1	0	0	0	6637	1000	35	5	4461	5	GPR112	23	135430316	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3526	135430316	19840244	4673	9141										
BRS3	680	broad.mit.edu	37	chrX	135570694	135570694	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cagtgttcacattaacaattCtcagcgctgacaggtgagtt	9	9	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135570694C>A	ENST00000370648.3	+	1	649	c.421C>A	c.(421-423)Ctc>Atc	p.L141I	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	141					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)					ATTAACAATTCTCAGCGCTGA	0.428																																						ENST00000370648.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23						c.(421-423)Ctc>Atc		bombesin-like receptor 3							96	89	91					X																	135570694		2203	4300	6503	SO:0001583	missense	680				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	g.chrX:135570694C>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.421C>A	X.37:g.135570694C>A	ENSP00000359682:p.Leu141Ile		Somatic					p.L141I	NM_001727.1	NP_001718.1	WXS	Illumina GAIIx	Phase_I	P32247	BRS3_HUMAN			1	649	+	Acute lymphoblastic leukemia(192;0.000127)		141						Missense_Mutation	SNP	ENST00000370648.3	37	c.421C>A	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346414	0.82022	.	.	ENSG00000102239	ENST00000370648	T	0.62105	0.05	5.92	5.92	0.95590	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.67896	0.2942	L	0.33753	1.03	0.58432	D	0.999999	D	0.76494	0.999	D	0.77557	0.99	T	0.60058	-0.7337	10	0.02654	T	1	-13.6358	19.2416	0.93887	0.0:1.0:0.0:0.0	.	141	P32247	BRS3_HUMAN	I	141	ENSP00000359682:L141I	ENSP00000359682:L141I	L	+	1	0	BRS3	135398360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.496000	0.84212	0.594000	0.82650	CTC		0.428	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		27	50	1	0	6.32553e-13	1	8.04352e-13	27	50					A	135570694	C	A	135570694	3	1	48	1	0	0	0	0	1	0	0	0	1524	913	32	2	423	2	BRS3	23	135570694	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	140378	135570694	19699866	4674	9142										
HTATSF1	27336	broad.mit.edu	37	chrX	135593733	135593733	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agatgacggctctgaaaaagTgttagatgaggaaggctctg	14	5	2	5			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135593733T>C	ENST00000218364.4	+	9	2003	c.1829T>C	c.(1828-1830)gTg>gCg	p.V610A	HTATSF1_ENST00000535601.1_Missense_Mutation_p.V610A	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	610	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)					TCTGAAAAAGTGTTAGATGAG	0.373																																						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.(1828-1830)gTg>gCg		HIV-1 Tat specific factor 1							71	75	74					X																	135593733		2202	4296	6498	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:135593733T>C	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.1829T>C	X.37:g.135593733T>C	ENSP00000218364:p.Val610Ala		Somatic				HTATSF1_ENST00000218364.4_Missense_Mutation_p.V610A	p.V610A	NM_001163280.1	NP_001156752.1	WXS	Illumina GAIIx	Phase_I	O43719	HTSF1_HUMAN			10	2251	+	Acute lymphoblastic leukemia(192;0.000127)		610			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.1829T>C	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.464203	0.26335	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.03951	3.75;3.75	4.64	0.655	0.17839	.	1.016880	0.07860	N	0.966176	T	0.03959	0.0111	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.44236	-0.9341	10	0.87932	D	0	-2.6199	7.2615	0.26205	0.0:0.3607:0.0:0.6393	.	610	O43719	HTSF1_HUMAN	A	610	ENSP00000442699:V610A;ENSP00000218364:V610A	ENSP00000218364:V610A	V	+	2	0	HTATSF1	135421399	0.000000	0.05858	0.000000	0.03702	0.972000	0.66771	-0.145000	0.10265	-0.006000	0.14370	0.425000	0.28330	GTG		0.373	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		5	95	0	0	0	1	0	5	95					C	135593733	T	C	135593733	3	2	48	1	0	0	0	0	1	0	0	0	7442	1696	59	4	1863	4	HTATSF1	23	135593733	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	23039	135593733	19676827	4675	9143										
CD40LG	959	broad.mit.edu	37	chrX	135741501	135741501	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcaaccaggtgcttcggtgtTtgtcaatgtgactgatccaa	11	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135741501T>G	ENST00000370629.2	+	5	769	c.713T>G	c.(712-714)tTt>tGt	p.F238C	CD40LG_ENST00000370628.2_Missense_Mutation_p.F217C	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	238					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					GCTTCGGTGTTTGTCAATGTG	0.502									Immune Deficiency with Hyper-IgM																													ENST00000370629.2																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26						c.(712-714)tTt>tGt		CD40 ligand	Atorvastatin(DB01076)						167	144	151					X																	135741501		2203	4300	6503	SO:0001583	missense	959	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135741501T>G	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"Tumor necrosis factor (ligand) superfamily", "CD molecules", "Endogenous ligands"	11935	protein-coding gene	gene with protein product	"CD40 antigen ligand", "tumor necrosis factor (ligand) superfamily member 5", "T-B cell-activating molecule", "TNF-related activation protein", "hyper-IgM syndrome"	300386	"tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.713T>G	X.37:g.135741501T>G	ENSP00000359663:p.Phe238Cys		Somatic				CD40LG_ENST00000370628.2_Missense_Mutation_p.F217C	p.F238C	NM_000074.2	NP_000065.1	WXS	Illumina GAIIx	Phase_I	P29965	CD40L_HUMAN			5	769	+	Acute lymphoblastic leukemia(192;0.000127)		238						Missense_Mutation	SNP	ENST00000370629.2	37	c.713T>G	CCDS14659.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816208	0.70912	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	D;D	0.94828	-3.53;-3.53	5.47	5.47	0.80525	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.112589	0.64402	D	0.000010	D	0.96728	0.8932	M	0.69823	2.125	0.45676	D	0.998591	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97237	0.9888	10	0.87932	D	0	-13.7167	14.2243	0.65848	0.0:0.0:0.0:1.0	.	217;238	Q3L8U2;P29965	.;CD40L_HUMAN	C	238;217	ENSP00000359663:F238C;ENSP00000359662:F217C	ENSP00000359662:F217C	F	+	2	0	CD40LG	135569167	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	5.482000	0.66833	1.822000	0.53115	0.486000	0.48141	TTT		0.502	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		63	125	0	0	0	1	0	63	125					G	135741501	T	G	135741501	3	3	48	1	0	0	0	0	1	0	0	0	3018	1841	64	4	731	4	CD40LG	23	135741501	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	147768	135741501	19529059	4676	9144										
ARHGEF6	9459	broad.mit.edu	37	chrX	135757212	135757212	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gcgctggtgcagtaggcttcGatcactttaaggatttgagc	13	8	1	1	rs376908686		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135757212G>A	ENST00000250617.6	-	19	3194	c.1989C>T	c.(1987-1989)atC>atT	p.I663I	ARHGEF6_ENST00000535227.1_Silent_p.I536I|ARHGEF6_ENST00000370622.1_Silent_p.I509I|ARHGEF6_ENST00000370620.1_Silent_p.I509I	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	663					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AGTAGGCTTCGATCACTTTAA	0.413																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(1987-1989)atC>atT		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6		G		1,3834		0,1,1631,571	160	135	143		1989	-11.2	0.1	X		143	0,6728		0,0,2428,1872	no	coding-synonymous	ARHGEF6	NM_004840.2		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		663/777	135757212	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135757212G>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1989C>T	X.37:g.135757212G>A			Somatic				ARHGEF6_ENST00000535227.1_Silent_p.I536I|ARHGEF6_ENST00000370622.1_Silent_p.I509I|ARHGEF6_ENST00000370620.1_Silent_p.I509I	p.I663I	NM_004840.2	NP_004831.1	WXS	Illumina GAIIx	Phase_I	Q15052	ARHG6_HUMAN			19	3194	-	Acute lymphoblastic leukemia(192;0.000127)		663					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Silent	SNP	ENST00000250617.6	37	c.1989C>T	CCDS14660.1																																																																																				0.413	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		9	19	0	0	0	1	0	9	19					A	135757212	G	A	135757212	2	1	48	1	0	0	0	0	0	0	0	1	910	1048	37	1		1	ARHGEF6	23	135757212	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	15711	135757212	19513348	4677	9145										
ARHGEF6	9459	broad.mit.edu	37	chrX	135764991	135764991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaaaataacataaggtaccGctcctctttttcctgagagg	8	9	1	2	rs147323188		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135764991G>A	ENST00000250617.6	-	13	2610	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.R342W|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.R315W|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.R315W	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	469	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATAAGGTACCGCTCCTCTTTT	0.343																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(1405-1407)Cgg>Tgg		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6		G	TRP/ARG	1,3834		0,1,1631,571	93	81	85		1405	4.4	1	X	dbSNP_134	85	0,6728		0,0,2428,1872	no	missense	ARHGEF6	NM_004840.2	101	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging	469/777	135764991	1,10562	2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135764991G>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1405C>T	X.37:g.135764991G>A	ENSP00000250617:p.Arg469Trp		Somatic				ARHGEF6_ENST00000535227.1_Missense_Mutation_p.R342W|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.R315W|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.R315W	p.R469W	NM_004840.2	NP_004831.1	WXS	Illumina GAIIx	Phase_I	Q15052	ARHG6_HUMAN			13	2610	-	Acute lymphoblastic leukemia(192;0.000127)		469			PH.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.1405C>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263263	0.59431	2.61E-4	0.0	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	5.4	4.45	0.53987	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.78984	0.4370	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83635	0.0147	10	0.87932	D	0	.	14.3171	0.66460	0.0:0.0:0.7823:0.2177	.	342;469	B7Z3C7;Q15052	.;ARHG6_HUMAN	W	469;315;315;315;342	ENSP00000250617:R469W;ENSP00000359654:R315W;ENSP00000359656:R315W;ENSP00000439483:R342W	ENSP00000250617:R469W	R	-	1	2	ARHGEF6	135592657	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.834000	0.48167	2.250000	0.74265	0.600000	0.82982	CGG		0.343	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		13	21	0	0	0	1	0	13	21					A	135764991	G	A	135764991	3	1	48	1	0	0	0	0	1	0	0	0	910	1086	38	1	965	1	ARHGEF6	23	135764991	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	7779	135764991	19505569	4678	9146										
ARHGEF6	9459	broad.mit.edu	37	chrX	135827455	135827455	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgggtttgtctgagaagtaTtagcagcactaagagaagag	14	4	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135827455T>G	ENST00000250617.6	-	4	1591	c.386A>C	c.(385-387)aAt>aCt	p.N129T	ARHGEF6_ENST00000535227.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR|ARHGEF6_ENST00000370620.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	129					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTGAGAAGTATTAGCAGCACT	0.448																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(385-387)aAt>aCt		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							222	198	206					X																	135827455		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135827455T>G	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.386A>C	X.37:g.135827455T>G	ENSP00000250617:p.Asn129Thr		Somatic				ARHGEF6_ENST00000535227.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR|ARHGEF6_ENST00000370620.1_5'UTR	p.N129T	NM_004840.2	NP_004831.1	WXS	Illumina GAIIx	Phase_I	Q15052	ARHG6_HUMAN			4	1591	-	Acute lymphoblastic leukemia(192;0.000127)		129					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.386A>C	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	T	3.991	-0.004398	0.07773	.	.	ENSG00000129675	ENST00000250617	T	0.54071	0.59	4.63	0.541	0.17168	Calponin homology domain (1);	0.904164	0.09789	N	0.755607	T	0.23014	0.0556	N	0.02011	-0.69	0.19300	N	0.999976	B	0.02656	0.0	B	0.01281	0.0	T	0.22800	-1.0206	10	0.14656	T	0.56	.	9.2213	0.37379	0.0:0.0953:0.5838:0.3209	.	129	Q15052	ARHG6_HUMAN	T	129	ENSP00000250617:N129T	ENSP00000250617:N129T	N	-	2	0	ARHGEF6	135655121	0.166000	0.22962	0.707000	0.30419	0.530000	0.34684	0.122000	0.15687	0.111000	0.17947	0.430000	0.28490	AAT		0.448	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		74	121	0	0	0	1	0	74	121					G	135827455	T	G	135827455	3	3	48	1	0	0	0	0	1	0	0	0	910	1493	52	4	2020	4	ARHGEF6	23	135827455	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	62464	135827455	19443105	4679	9147										
RBMX	27316	broad.mit.edu	37	chrX	135961190	135961190	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tctcacctttccattcatgtCtctggctgcatccttagcgt	6	14	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135961190C>A	ENST00000320676.7	-	3	356	c.202G>T	c.(202-204)Gac>Tac	p.D68Y	SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000431446.3_Missense_Mutation_p.D68Y|RBMX_ENST00000562646.1_Missense_Mutation_p.D68Y	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	68	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)					CCATTCATGTCTCTGGCTGCA	0.413																																						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.(202-204)Gac>Tac		RNA binding motif protein, X-linked							163	134	144					X																	135961190		2203	4300	6503	SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135961190C>A		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.202G>T	X.37:g.135961190C>A	ENSP00000359645:p.Asp68Tyr		Somatic				RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000320676.7_Missense_Mutation_p.D68Y|RBMX_ENST00000431446.3_Missense_Mutation_p.D68Y|RBMX_ENST00000565438.1_Intron	p.D68Y			WXS	Illumina GAIIx	Phase_I	P38159	HNRPG_HUMAN			3	356	-	Acute lymphoblastic leukemia(192;0.000127)		68			RRM.		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.202G>T	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	21.6	4.172103	0.78452	.	.	ENSG00000147274	ENST00000431446;ENST00000320676;ENST00000449161	T;T	0.16597	2.33;2.33	4.47	4.47	0.54385	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.064955	0.64402	U	0.000010	T	0.25827	0.0629	N	0.16016	0.355	0.80722	D	1	D;P;D	0.69078	0.997;0.625;0.971	D;P;P	0.70227	0.968;0.585;0.817	T	0.24333	-1.0163	10	0.87932	D	0	.	16.502	0.84260	0.0:1.0:0.0:0.0	.	68;68;55	B4E3U4;P38159;Q8N8Y7	.;HNRPG_HUMAN;.	Y	68;68;55	ENSP00000411989:D68Y;ENSP00000359645:D68Y	ENSP00000359645:D68Y	D	-	1	0	RBMX	135788856	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.762000	0.85270	1.802000	0.52723	0.508000	0.49915	GAC		0.413	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		34	75	1	0	4.34311e-12	1	5.44389e-12	34	75					A	135961190	C	A	135961190	3	1	48	1	0	0	0	0	1	0	0	0	13166	913	32	2	1056	2	RBMX	23	135961190	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	133735	135961190	19309370	4680	9148										
GPR101	83550	broad.mit.edu	37	chrX	136112733	136112733	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tccgggatgttcactgcctcGacgtcatcctcactgaaatt	8	13	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:136112733G>A	ENST00000298110.1	-	1	1100	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	367						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TCACTGCCTCGACGTCATCCT	0.537																																						ENST00000298110.1																			0				autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(1099-1101)gtC>gtT		G protein-coupled receptor 101							272	199	224					X																	136112733		2203	4300	6503	SO:0001819	synonymous_variant	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136112733G>A	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1101C>T	X.37:g.136112733G>A			Somatic					p.V367V	NM_054021.1	NP_473362.1	WXS	Illumina GAIIx	Phase_I	Q96P66	GP101_HUMAN			1	1100	-	Acute lymphoblastic leukemia(192;0.000127)		367					Q5JSM8|Q8NG93	Silent	SNP	ENST00000298110.1	37	c.1101C>T	CCDS14662.1																																																																																				0.537	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			47	127	0	0	0	1	0	47	127					A	136112733	G	A	136112733	2	1	48	1	0	0	0	0	0	0	0	1	6630	1045	37	1		1	GPR101	23	136112733	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	151543	136112733	19157827	4681	9149										
ATP11C	286410	broad.mit.edu	37	chrX	138880864	138880864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcttctcggtattttttagcGtagctcctttcagcaagaga	8	9	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:138880864G>A	ENST00000327569.3	-	9	856	c.758C>T	c.(757-759)aCg>aTg	p.T253M	ATP11C_ENST00000370543.1_Missense_Mutation_p.T253M|ATP11C_ENST00000361648.2_Missense_Mutation_p.T253M|ATP11C_ENST00000370557.1_Missense_Mutation_p.T250M|ATP11C_ENST00000359686.2_Missense_Mutation_p.T253M|ATP11C_ENST00000460773.1_5'Flank	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	253					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATTTTTTAGCGTAGCTCCTTT	0.338																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(748-750)aCg>aTg		ATPase, class VI, type 11C							65	60	62					X																	138880864		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138880864G>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.758C>T	X.37:g.138880864G>A	ENSP00000332756:p.Thr253Met		Somatic				ATP11C_ENST00000327569.3_Missense_Mutation_p.T253M|ATP11C_ENST00000370543.1_Missense_Mutation_p.T253M|ATP11C_ENST00000359686.2_Missense_Mutation_p.T253M|ATP11C_ENST00000361648.2_Missense_Mutation_p.T253M	p.T250M			WXS	Illumina GAIIx	Phase_I	Q8NB49	AT11C_HUMAN			9	1776	-	Acute lymphoblastic leukemia(192;0.000127)		253					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.749C>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329598	0.81690	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	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	0.94159	0.8126	L	0.58969	1.84	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.77004	0.982;0.989	D	0.93636	0.6960	10	0.42905	T	0.14	.	17.4808	0.87672	0.0:0.0:1.0:0.0	.	253;253	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	M	250;253;253;253;253	ENSP00000359588:T250M;ENSP00000355165:T253M;ENSP00000332756:T253M;ENSP00000359574:T253M;ENSP00000352715:T253M	ENSP00000332756:T253M	T	-	2	0	ATP11C	138708530	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.411000	0.80078	2.343000	0.79666	0.594000	0.82650	ACG		0.338	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		21	39	0	0	0	1	0	21	39					A	138880864	G	A	138880864	3	1	48	1	0	0	0	0	1	0	0	0	1121	1145	40	1	2791	1	ATP11C	23	138880864	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2768131	138880864	16389696	4682	9150										
ATP11C	286410	broad.mit.edu	37	chrX	138901568	138901568	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttcaaacagattctttgggaGaaaattccaaagtgtatact	7	6	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:138901568G>T	ENST00000327569.3	-	3	273	c.175C>A	c.(175-177)Ctc>Atc	p.L59I	ATP11C_ENST00000370543.1_Missense_Mutation_p.L59I|ATP11C_ENST00000361648.2_Missense_Mutation_p.L59I|ATP11C_ENST00000370557.1_Missense_Mutation_p.L56I|ATP11C_ENST00000359686.2_Missense_Mutation_p.L59I	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	59					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTCTTTGGGAGAAAATTCCAA	0.323																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(166-168)Ctc>Atc		ATPase, class VI, type 11C							28	31	30					X																	138901568		2196	4278	6474	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138901568G>T	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.175C>A	X.37:g.138901568G>T	ENSP00000332756:p.Leu59Ile		Somatic				ATP11C_ENST00000327569.3_Missense_Mutation_p.L59I|ATP11C_ENST00000370543.1_Missense_Mutation_p.L59I|ATP11C_ENST00000359686.2_Missense_Mutation_p.L59I|ATP11C_ENST00000361648.2_Missense_Mutation_p.L59I	p.L56I			WXS	Illumina GAIIx	Phase_I	Q8NB49	AT11C_HUMAN			3	1193	-	Acute lymphoblastic leukemia(192;0.000127)		59					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.166C>A	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	G	2.759	-0.258326	0.05791	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.21	5.21	0.72293	.	0.068462	0.64402	D	0.000012	T	0.33030	0.0849	N	0.12527	0.23	0.42006	D	0.990915	B;B	0.15719	0.014;0.008	B;B	0.21708	0.036;0.027	T	0.16837	-1.0389	10	0.25106	T	0.35	.	10.0795	0.42381	0.0:0.0:0.8005:0.1995	.	59;59	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	I	56;59;59;59;59	ENSP00000359588:L56I;ENSP00000355165:L59I;ENSP00000332756:L59I;ENSP00000359574:L59I;ENSP00000352715:L59I	ENSP00000332756:L59I	L	-	1	0	ATP11C	138729234	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.791000	0.55469	2.419000	0.82065	0.513000	0.50165	CTC		0.323	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		5	19	1	0	0.014758	1	0.015099	5	19					T	138901568	G	T	138901568	3	4	48	1	0	0	0	0	1	0	0	0	1121	942	33	2	3398	2	ATP11C	23	138901568	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	20704	138901568	16368992	4683	9151										
CXorf66	347487	broad.mit.edu	37	chrX	139038459	139038459	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctgtggaccgaatggcttggAtggtgagatttcattttgtg	14	5	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:139038459A>G	ENST00000370540.1	-	3	705	c.682T>C	c.(682-684)Tcc>Ccc	p.S228P		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	228						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						AATGGCTTGGATGGTGAGATT	0.453																																						ENST00000370540.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						c.(682-684)Tcc>Ccc		chromosome X open reading frame 66							158	143	148					X																	139038459		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139038459A>G		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"secreted glycoprotein, X-linked"					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.682T>C	X.37:g.139038459A>G	ENSP00000359571:p.Ser228Pro		Somatic					p.S228P	NM_001013403.2	NP_001013421.1	WXS	Illumina GAIIx	Phase_I	Q5JRM2	CX066_HUMAN			3	705	-			228						Missense_Mutation	SNP	ENST00000370540.1	37	c.682T>C	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	A	3.557	-0.090530	0.07053	.	.	ENSG00000203933	ENST00000370540	T	0.51574	0.7	3.62	-7.24	0.01475	.	1.529000	0.04084	N	0.310231	T	0.18635	0.0447	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13683	-1.0500	9	.	.	.	7.2778	4.6076	0.12385	0.484:0.0:0.1422:0.3738	.	228	Q5JRM2	CX066_HUMAN	P	228	ENSP00000359571:S228P	.	S	-	1	0	CXorf66	138866125	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.244000	0.02902	-2.225000	0.00724	-1.101000	0.02118	TCC		0.453	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		70	124	0	0	0	1	0	70	124					G	139038459	A	G	139038459	3	3	48	1	0	0	0	0	1	0	0	0	4120	333	12	4	407	4	CXorf66	23	139038459	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	136891	139038459	16232101	4684	9152										
CDR1	1038	broad.mit.edu	37	chrX	139865861	139865861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgtcttccagaaaaatctaCgtcttccaccaaatccaggt	6	12	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:139865861C>T	ENST00000370532.2	-	1	862	c.671G>A	c.(670-672)cGt>cAt	p.R224H		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	224								p.R224H(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)				GAAAAATCTACGTCTTCCACC	0.448																																						ENST00000370532.2																			1	Substitution - Missense(1)	p.R224H(1)	large_intestine(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25						c.(670-672)cGt>cAt		cerebellar degeneration-related protein 1, 34kDa							119	113	115					X																	139865861		2203	4300	6503	SO:0001583	missense	1038							g.chrX:139865861C>T		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.671G>A	X.37:g.139865861C>T	ENSP00000359563:p.Arg224His		Somatic					p.R224H	NM_004065.2	NP_004056.2	WXS	Illumina GAIIx	Phase_I	P51861	CDR1_HUMAN			1	862	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	224					Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.671G>A	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.997007	0.00435	.	.	ENSG00000184258	ENST00000370532	.	.	.	4.58	-9.15	0.00698	.	.	.	.	.	T	0.19927	0.0479	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52917	-0.8511	7	.	.	.	.	15.7901	0.78350	0.0:0.5526:0.3087:0.1387	.	224	P51861	CDR1_HUMAN	H	224	.	.	R	-	2	0	CDR1	139693527	0.000000	0.05858	0.000000	0.03702	0.144000	0.21451	-13.485000	0.00001	-5.748000	0.00010	-1.800000	0.00619	CGT		0.448	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		75	110	0	0	0	1	0	75	110					T	139865861	C	T	139865861	3	4	48	1	0	0	0	0	1	0	0	0	3173	536	19	1	121	1	CDR1	23	139865861	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	827402	139865861	15404699	4685	9153										
MAGEC3	139081	broad.mit.edu	37	chrX	140984575	140984575	+	Intron	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcctccacttcctcttcctCtttccactttttattcccct	0	19	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:140984575C>T	ENST00000298296.1	+	7	1123				MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Missense_Mutation_p.S46F|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_Missense_Mutation_p.S46F|MAGEC3_ENST00000409007.1_Missense_Mutation_p.S46F	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3											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)					tcctcttcctctttccacttt	0.512																																						ENST00000544766.1																			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.(136-138)tCt>tTt		melanoma antigen family C, 3							130	85	100					X																	140984575		2203	4300	6503	SO:0001627	intron_variant	139081							g.chrX:140984575C>T	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1124-93C>T	X.37:g.140984575C>T			Somatic				MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000409007.1_Missense_Mutation_p.S46F|MAGEC3_ENST00000536088.1_Missense_Mutation_p.S46F|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Intron	p.S46F	NM_177456.2	NP_803251.1	WXS	Illumina GAIIx	Phase_I	Q8TD91	MAGC3_HUMAN			5	664	+	Acute lymphoblastic leukemia(192;6.56e-05)		440					Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.137C>T	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	c	7.492	0.650916	0.14516	.	.	ENSG00000165509	ENST00000536088;ENST00000544766;ENST00000409007	T;T;T	0.06068	3.35;3.35;3.35	1.32	1.32	0.21799	.	.	.	.	.	T	0.15392	0.0371	.	.	.	0.09310	N	0.999999	D	0.64830	0.994	D	0.67725	0.953	T	0.09058	-1.0692	8	0.49607	T	0.09	.	5.5095	0.16872	0.0:1.0:0.0:0.0	.	46	Q3SYA7	.	F	46	ENSP00000441107:S46F;ENSP00000440444:S46F;ENSP00000386566:S46F	ENSP00000386566:S46F	S	+	2	0	MAGEC3	140812241	0.000000	0.05858	0.007000	0.13788	0.016000	0.09150	-0.173000	0.09854	0.922000	0.37019	0.363000	0.22086	TCT		0.512	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		27	48	0	0	0	1	0	27	48					T	140984575	C	T	140984575	1	4	48	0	1	0	0	0	0	0	0	0	9191	913	32	3		3	MAGEC3	23	140984575	Intron	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	1118714	140984575	14285985	4686	9154										
MAGEC1	9947	broad.mit.edu	37	chrX	140996502	140996502	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	acctttccatcctcttacaaGgatgctttgaaagatgtgga	8	9	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:140996502G>T	ENST00000285879.4	+	4	3598	c.3312G>T	c.(3310-3312)aaG>aaT	p.K1104N	MAGEC1_ENST00000406005.2_Missense_Mutation_p.K171N	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1104	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)					CCTCTTACAAGGATGCTTTGA	0.463										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.(3310-3312)aaG>aaT		melanoma antigen family C, 1							125	113	117					X																	140996502		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140996502G>T	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.3312G>T	X.37:g.140996502G>T	ENSP00000285879:p.Lys1104Asn	HNSCC(15;0.026)	Somatic				MAGEC1_ENST00000406005.2_Missense_Mutation_p.K171N	p.K1104N	NM_005462.4	NP_005453.2	WXS	Illumina GAIIx	Phase_I	O60732	MAGC1_HUMAN			4	3598	+	Acute lymphoblastic leukemia(192;6.56e-05)		1104			MAGE.		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.3312G>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	4.792	0.147194	0.09134	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.04862	4.46;3.54	1.06	0.0883	0.14454	.	.	.	.	.	T	0.03477	0.0100	L	0.29908	0.895	0.09310	N	1	P	0.47604	0.898	B	0.33690	0.168	T	0.40459	-0.9562	9	0.72032	D	0.01	.	3.1308	0.06423	0.3405:0.0:0.6595:0.0	.	1104	O60732	MAGC1_HUMAN	N	1104;171	ENSP00000285879:K1104N;ENSP00000385500:K171N	ENSP00000285879:K1104N	K	+	3	2	MAGEC1	140824168	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	-1.065000	0.03458	-0.029000	0.13827	0.279000	0.19357	AAG		0.463	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		62	85	1	0	9.10829e-22	1	1.2621e-21	62	85					T	140996502	G	T	140996502	3	4	48	1	0	0	0	0	1	0	0	0	9189	991	35	5	3318	5	MAGEC1	23	140996502	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	11927	140996502	14274058	4687	9155										
MAGEC1	9947	broad.mit.edu	37	chrX	140996562	140996562	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	attgacaccacagatgattcGactgccacagaaagtgcaag	9	10	0	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:140996562G>A	ENST00000285879.4	+	4	3658	c.3372G>A	c.(3370-3372)tcG>tcA	p.S1124S	MAGEC1_ENST00000406005.2_Silent_p.S191S	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1124										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)					CAGATGATTCGACTGCCACAG	0.483										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.(3370-3372)tcG>tcA		melanoma antigen family C, 1							89	76	80					X																	140996562		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140996562G>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.3372G>A	X.37:g.140996562G>A		HNSCC(15;0.026)	Somatic				MAGEC1_ENST00000406005.2_Silent_p.S191S	p.S1124S	NM_005462.4	NP_005453.2	WXS	Illumina GAIIx	Phase_I	O60732	MAGC1_HUMAN			4	3658	+	Acute lymphoblastic leukemia(192;6.56e-05)		1124					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.3372G>A	CCDS35417.1																																																																																				0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		32	72	0	0	0	1	0	32	72					A	140996562	G	A	140996562	2	1	48	1	0	0	0	0	0	0	0	1	9189	1045	37	1		1	MAGEC1	23	140996562	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	60	140996562	14273998	4688	9156										
MAGEC2	51438	broad.mit.edu	37	chrX	141291545	141291545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatgctctcggtaagatttgGtatcacaccagagggcacct	10	10	2	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:141291545G>A	ENST00000247452.3	-	3	576	c.229C>T	c.(229-231)Cca>Tca	p.P77S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	77					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GTAAGATTTGGTATCACACCA	0.517										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(229-231)Cca>Tca		melanoma antigen family C, 2							76	70	72					X																	141291545		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291545G>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.229C>T	X.37:g.141291545G>A	ENSP00000354660:p.Pro77Ser	HNSCC(46;0.14)	Somatic					p.P77S	NM_016249.3	NP_057333.1	WXS	Illumina GAIIx	Phase_I	Q9UBF1	MAGC2_HUMAN			3	576	-	Acute lymphoblastic leukemia(192;6.56e-05)		77					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.229C>T	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	0.823	-0.748110	0.03065	.	.	ENSG00000046774	ENST00000247452	T	0.04360	3.64	0.731	-0.722	0.11184	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.03434	0.0099	N	0.12182	0.205	0.09310	N	1	D	0.56521	0.976	P	0.46585	0.521	T	0.41734	-0.9492	8	0.66056	D	0.02	.	.	.	.	.	77	Q9UBF1	MAGC2_HUMAN	S	77	ENSP00000354660:P77S	ENSP00000354660:P77S	P	-	1	0	MAGEC2	141119211	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.190000	0.09615	-0.348000	0.08286	0.179000	0.17066	CCA		0.517	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		22	59	0	0	0	1	0	22	59					A	141291545	G	A	141291545	3	1	48	1	0	0	0	0	1	0	0	0	9190	1261	44	3	896	3	MAGEC2	23	141291545	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	294983	141291545	13979015	4689	9157										
MAGEC2	51438	broad.mit.edu	37	chrX	141291629	141291629	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaagaagagggggaaaataCtaagtacaaagtggaagagg	15	2	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:141291629C>A	ENST00000247452.3	-	3	492	c.145G>T	c.(145-147)Gta>Tta	p.V49L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	49	Ser-rich.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAAAATACTAAGTACAAA	0.517										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(145-147)Gta>Tta		melanoma antigen family C, 2							102	105	104					X																	141291629		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291629C>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.145G>T	X.37:g.141291629C>A	ENSP00000354660:p.Val49Leu	HNSCC(46;0.14)	Somatic					p.V49L	NM_016249.3	NP_057333.1	WXS	Illumina GAIIx	Phase_I	Q9UBF1	MAGC2_HUMAN			3	492	-	Acute lymphoblastic leukemia(192;6.56e-05)		49			Ser-rich.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.145G>T	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	6.928	0.540995	0.13250	.	.	ENSG00000046774	ENST00000247452	T	0.02032	4.49	1.09	-2.17	0.07059	.	.	.	.	.	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.48139	-0.9061	9	0.15499	T	0.54	.	2.2561	0.04055	0.4113:0.3276:0.2611:0.0	.	49	Q9UBF1	MAGC2_HUMAN	L	49	ENSP00000354660:V49L	ENSP00000354660:V49L	V	-	1	0	MAGEC2	141119295	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.647000	0.05397	-0.829000	0.04268	-0.728000	0.03583	GTA		0.517	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		65	118	1	0	2.19297e-23	1	3.06666e-23	65	118					A	141291629	C	A	141291629	3	1	48	1	0	0	0	0	1	0	0	0	9190	565	20	5	980	5	MAGEC2	23	141291629	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	84	141291629	13978931	4690	9158										
SPANXN1	494118	broad.mit.edu	37	chrX	144337190	144337190	+	Splice_Site	SNP	G	G	T													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctctccctgttttcttaacaGatgcaggagacaccaaacag							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:144337190G>T	ENST00000370493.3	+	2	834		c.e2-1			NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1									p.?(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTTAACAGATGCAGGAGA	0.443																																						ENST00000370493.3																			2	Unknown(2)	p.?(2)	lung(2)	endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14						c.e2-1		SPANX family, member N1							85	82	83					X																	144337190		2203	4297	6500	SO:0001630	splice_region_variant	494118							g.chrX:144337190G>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.76-1G>T	X.37:g.144337190G>T			Somatic						NM_001009614.2	NP_001009614.1	WXS	Illumina GAIIx	Phase_I	Q5VSR9	SPXN1_HUMAN			2	834	+	Acute lymphoblastic leukemia(192;6.56e-05)								Splice_Site	SNP	ENST00000370493.3	37		CCDS35421.1	.	.	.	.	.	.	.	.	.	.	-	0.089	-1.169798	0.01660	.	.	ENSG00000203923	ENST00000370493	.	.	.	1.64	-2.36	0.06663	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5569	0.00672	0.1823:0.2389:0.3353:0.2435	.	.	.	.	.	-1	.	.	.	+	.	.	SPANXN1	144144882	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.699000	0.05087	-0.716000	0.04962	-2.006000	0.00442	.		0.443	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614	Intron	22	71	1	0	2.37509e-13	1	3.04217e-13	22	71					T	144337190	G	T	144337190	5	4	48	1	0	0	0	0	0	0	1	0	15005	956	33	2	81	2	SPANXN1	23	144337190	Splice_Site	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	3045561	144337190	10933370	4691	9159	26	2								
SPANXN1	494118	broad.mit.edu	37	chrX	144337199	144337199	+	Silent	SNP	G	G	A													0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttttcttaacagatgcaggaGacaccaaacagggacttagc							TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:144337199G>A	ENST00000370493.3	+	2	843	c.84G>A	c.(82-84)gaG>gaA	p.E28E		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	28										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGCAGGAGACACCAAACA	0.423																																						ENST00000370493.3																			0				endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14						c.(82-84)gaG>gaA		SPANX family, member N1							98	93	94					X																	144337199		2203	4297	6500	SO:0001819	synonymous_variant	494118							g.chrX:144337199G>A		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.84G>A	X.37:g.144337199G>A			Somatic					p.E28E	NM_001009614.2	NP_001009614.1	WXS	Illumina GAIIx	Phase_I	Q5VSR9	SPXN1_HUMAN			2	843	+	Acute lymphoblastic leukemia(192;6.56e-05)		28						Silent	SNP	ENST00000370493.3	37	c.84G>A	CCDS35421.1																																																																																				0.423	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		24	67	0	0	0	1	0	24	67					A	144337199	G	A	144337199	2	1	48	1	0	0	0	0	0	0	0	1	15005	933	33	3		3	SPANXN1	23	144337199	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	9	144337199	10933361	4692	9160	26	2								
SLITRK2	84631	broad.mit.edu	37	chrX	144906076	144906076	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gaaggagacccagtagcctaTtaccgaaacctgcaagagtt	10	10	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:144906076T>G	ENST00000370490.1	+	1	6388	c.2133T>G	c.(2131-2133)taT>taG	p.Y711*	SLITRK2_ENST00000447897.2_Nonsense_Mutation_p.Y711*|SLITRK2_ENST00000413937.2_Nonsense_Mutation_p.Y711*|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000434188.2_Nonsense_Mutation_p.Y711*|SLITRK2_ENST00000428560.2_Nonsense_Mutation_p.Y711*			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	711					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)					CAGTAGCCTATTACCGAAACC	0.483																																						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.(2131-2133)taT>taG		SLIT and NTRK-like family, member 2							77	78	78					X																	144906076		2203	4300	6503	SO:0001587	stop_gained	84631					integral to membrane		g.chrX:144906076T>G	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.2133T>G	X.37:g.144906076T>G	ENSP00000359521:p.Tyr711*		Somatic				SLITRK2_ENST00000413937.2_Nonsense_Mutation_p.Y711*|SLITRK2_ENST00000447897.2_Nonsense_Mutation_p.Y711*|SLITRK2_ENST00000434188.2_Nonsense_Mutation_p.Y711*|SLITRK2_ENST00000428560.2_Nonsense_Mutation_p.Y711*	p.Y711*			WXS	Illumina GAIIx	Phase_I	Q9H156	SLIK2_HUMAN			1	6388	+	Acute lymphoblastic leukemia(192;6.56e-05)		711					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Nonsense_Mutation	SNP	ENST00000370490.1	37	c.2133T>G	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	T	59	35.459273	0.99982	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	.	.	.	5.34	1.24	0.21308	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-7.2528	7.3641	0.26762	0.0:0.4245:0.0:0.5754	.	.	.	.	X	711	.	ENSP00000334374:Y711X	Y	+	3	2	SLITRK2	144713768	0.665000	0.27466	1.000000	0.80357	0.968000	0.65278	-0.157000	0.10085	0.218000	0.20820	0.417000	0.27973	TAT		0.483	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		6	189	0	0	0	1	0	6	189					G	144906076	T	G	144906076	4	3	48	1	0	0	0	0	0	1	0	0	14758	1500	52	4	2135	4	SLITRK2	23	144906076	Nonsense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	568877	144906076	10364484	4693	9161										
FMR1	2332	broad.mit.edu	37	chrX	147030228	147030228	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agttgactgcaataatgaaaGgagtgtccacactaaaacat	8	7	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:147030228G>T	ENST00000370475.4	+	17	1891	c.1763G>T	c.(1762-1764)aGg>aTg	p.R588M	FMR1_ENST00000370471.3_Nonsense_Mutation_p.G498*|FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000218200.8_Missense_Mutation_p.R567M|FMR1_ENST00000370477.1_Intron|FMR1_ENST00000439526.2_Intron|FMR1_ENST00000370470.1_Intron|FMR1_ENST00000440235.2_Intron	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	588	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AATAATGAAAGGAGTGTCCAC	0.403									Fragile X syndrome																													ENST00000370471.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1492-1494)Gga>Tga		fragile X mental retardation 1							108	95	99					X																	147030228		2203	4300	6503	SO:0001583	missense	2332	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147030228G>T	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1763G>T	X.37:g.147030228G>T	ENSP00000359506:p.Arg588Met		Somatic				FMR1_ENST00000370475.4_Missense_Mutation_p.R588M|FMR1_ENST00000370477.1_Intron|FMR1_ENST00000218200.8_Missense_Mutation_p.R567M|FMR1_ENST00000440235.2_Intron|FMR1_ENST00000370470.1_Intron|FMR1_ENST00000439526.2_Intron	p.G498*	NM_001185075.1|NM_001185081.1	NP_001172004.1|NP_001172010.1	WXS	Illumina GAIIx	Phase_I	Q06787	FMR1_HUMAN			16	1721	+	Acute lymphoblastic leukemia(192;6.56e-05)		608			Interaction with RANBP9.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Nonsense_Mutation	SNP	ENST00000370475.4	37	c.1492G>T	CCDS14682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.211893|7.211893	0.98139|0.98139	.|.	.|.	ENSG00000102081|ENSG00000102081	ENST00000370471|ENST00000218200;ENST00000370475	.|T;T	.|0.40225	.|1.05;1.04	5.31|5.31	4.44|4.44	0.53790|0.53790	.|.	.|0.044846	.|0.85682	.|D	.|0.000000	.|T	.|0.37625	.|0.1010	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.59357	.|0.938;0.975;0.985	.|P;P;P	.|0.52267	.|0.498;0.594;0.694	.|T	.|0.10520	.|-1.0626	.|10	0.87932|0.33940	D|T	0|0.23	-28.0715|-28.0715	12.1853|12.1853	0.54234|0.54234	0.0845:0.0:0.9155:0.0|0.0845:0.0:0.9155:0.0	.|.	.|588;483;542	.|Q06787;Q59GC1;Q06787-8	.|FMR1_HUMAN;.;.	X|M	498|567;588	.|ENSP00000218200:R567M;ENSP00000359506:R588M	ENSP00000359502:G498X|ENSP00000218200:R567M	G|R	+|+	1|2	0|0	FMR1|FMR1	146837920|146837920	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.764000|4.764000	0.62264|0.62264	1.138000|1.138000	0.42230|0.42230	0.594000|0.594000	0.82650|0.82650	GGA|AGG		0.403	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		8	84	1	0	0.000157383	1	0.000169016	8	84					T	147030228	G	T	147030228	3	4	48	1	0	0	0	0	1	0	0	0	5968	1001	35	5	1829	5	FMR1	23	147030228	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	2124152	147030228	8240332	4694	9162										
AFF2	2334	broad.mit.edu	37	chrX	147924957	147924957	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aaagtcagtgtctttcaaatCgtgagtagttggatctccaa	9	7	4	1	rs201881045		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:147924957C>A	ENST00000370460.2	+	7	1741	c.1262C>A	c.(1261-1263)tCg>tAg	p.S421*	AFF2_ENST00000286437.5_Splice_Site_p.S62*|AFF2_ENST00000342251.3_Splice_Site_p.S388*|AFF2_ENST00000370458.1_Intron|AFF2_ENST00000370457.5_Splice_Site_p.S388*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	421					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)					TCTTTCAAATCGTGAGTAGTT	0.408																																						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.e7+1		AF4/FMR2 family, member 2							131	110	117					X																	147924957		2203	4300	6503	SO:0001630	splice_region_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147924957C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1262+1C>A	X.37:g.147924957C>A			Somatic				AFF2_ENST00000342251.3_Splice_Site_p.S388_splice|AFF2_ENST00000370457.5_Splice_Site_p.S388_splice|AFF2_ENST00000286437.5_Splice_Site_p.S62_splice|AFF2_ENST00000370458.1_Intron	p.S421_splice	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	WXS	Illumina GAIIx	Phase_I	P51816	AFF2_HUMAN			7	1741	+	Acute lymphoblastic leukemia(192;6.56e-05)		421					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Splice_Site	SNP	ENST00000370460.2	37	c.1262_splice	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	41	9.116989	0.99071	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	.	.	.	5.74	0.998	0.19857	.	0.954162	0.08661	N	0.912502	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9146	0.35574	0.0:0.6304:0.0:0.3696	.	.	.	.	X	421;388;388;62	.	ENSP00000286437:S62X	S	+	2	0	AFF2	147732649	1.000000	0.71417	0.001000	0.08648	0.821000	0.46438	0.660000	0.25009	-0.253000	0.09514	0.540000	0.68198	TCG		0.408	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	Nonsense_Mutation	24	43	1	0	2.21704e-12	1	2.79328e-12	24	43					A	147924957	C	A	147924957	5	1	48	1	0	0	0	0	0	0	1	0	357	898	31	2	1343	2	AFF2	23	147924957	Splice_Site	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	894729	147924957	7345603	4695	9163										
MAGEA11	4110	broad.mit.edu	37	chrX	148797840	148797840	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agataattgatttggttcatTtattgctccgcaagtatcga	8	6	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:148797840T>G	ENST00000355220.5	+	5	796	c.694T>G	c.(694-696)Tta>Gta	p.L232V	MAGEA11_ENST00000333104.4_Missense_Mutation_p.L203V	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	232	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)					TTTGGTTCATTTATTGCTCCG	0.438																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(694-696)Tta>Gta		melanoma antigen family A, 11							115	116	116					X																	148797840		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148797840T>G		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.694T>G	X.37:g.148797840T>G	ENSP00000347358:p.Leu232Val		Somatic				MAGEA11_ENST00000333104.4_Missense_Mutation_p.L203V	p.L232V	NM_005366.4	NP_005357.2	WXS	Illumina GAIIx	Phase_I	P43364	MAGAB_HUMAN			5	796	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		232			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.694T>G	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	8.805	0.933821	0.18206	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.06768	3.26;3.26;3.26	0.976	0.976	0.19727	.	.	.	.	.	T	0.14399	0.0348	M	0.65498	2.005	0.09310	N	1	B;B	0.32862	0.2;0.387	B;P	0.45276	0.157;0.475	T	0.33471	-0.9867	9	0.87932	D	0	.	3.8937	0.09130	0.0:0.0:0.0:1.0	.	203;232	G5E962;P43364	.;MAGAB_HUMAN	V	203;203;232	ENSP00000391496:L203V;ENSP00000328177:L203V;ENSP00000347358:L232V	ENSP00000328177:L203V	L	+	1	2	MAGEA11	148576565	0.005000	0.15991	0.002000	0.10522	0.040000	0.13550	0.610000	0.24253	0.629000	0.30376	0.350000	0.21858	TTA		0.438	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		47	88	0	0	0	1	0	47	88					G	148797840	T	G	148797840	3	3	48	1	0	0	0	0	1	0	0	0	9174	1838	64	4	721	4	MAGEA11	23	148797840	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	872883	148797840	6472720	4696	9164										
MAGEA8	4107	broad.mit.edu	37	chrX	149013420	149013420	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gttagttcgtttcctgctccGcaaatatcaaattaaggagc	8	9	1	0	rs150893284		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149013420G>A	ENST00000542674.1	+	3	895	c.374G>A	c.(373-375)cGc>cAc	p.R125H	MAGEA8_ENST00000535454.1_Missense_Mutation_p.R125H|MAGEA8_ENST00000286482.1_Missense_Mutation_p.R125H	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	125	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGCTCCGCAAATATCAA	0.498													g|||	1	0.000264901	0	0.0014	3775	,	,		15714	0		0	False		,,,				2504	0					ENST00000535454.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20						c.(373-375)cGc>cAc		melanoma antigen family A, 8		G	HIS/ARG,HIS/ARG,HIS/ARG	1,3834		0,1,1631,571	87	87	87		374,374,374	-1.9	0	X	dbSNP_134	87	0,6726		0,0,2428,1870	no	missense,missense,missense	MAGEA8	NM_001166400.1,NM_001166401.1,NM_005364.4	29,29,29	0,1,4059,2441	AA,AG,GG,G		0.0,0.0261,0.0095	benign,benign,benign	125/319,125/319,125/319	149013420	1,10560	2203	4298	6501	SO:0001583	missense	4107							g.chrX:149013420G>A		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"MAGE-8 antigen", "cancer/testis antigen family 1, member 8"	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.374G>A	X.37:g.149013420G>A	ENSP00000443776:p.Arg125His		Somatic				MAGEA8_ENST00000542674.1_Missense_Mutation_p.R125H|MAGEA8_ENST00000286482.1_Missense_Mutation_p.R125H	p.R125H	NM_001166400.1	NP_001159872.1	WXS	Illumina GAIIx	Phase_I	P43361	MAGA8_HUMAN			4	923	+	Acute lymphoblastic leukemia(192;6.56e-05)		125			MAGE.		Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	c.374G>A	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	2.893	-0.229199	0.06022	2.61E-4	0.0	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.04809	3.55;3.55;3.55	0.963	-1.93	0.07594	.	0.621529	0.16430	N	0.214772	T	0.01421	0.0046	N	0.02345	-0.59	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.41466	-0.9507	10	0.15499	T	0.54	.	1.7407	0.02952	0.2907:0.0:0.3076:0.4017	.	125	P43361	MAGA8_HUMAN	H	125	ENSP00000438293:R125H;ENSP00000443776:R125H;ENSP00000286482:R125H	ENSP00000286482:R125H	R	+	2	0	MAGEA8	148774078	0.230000	0.23740	0.006000	0.13384	0.519000	0.34347	-0.035000	0.12205	-1.263000	0.02455	0.181000	0.17075	CGC		0.498	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		51	110	0	0	0	1	0	51	110					A	149013420	G	A	149013420	3	1	48	1	0	0	0	0	1	0	0	0	9180	1087	38	1	376	1	MAGEA8	23	149013420	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	215580	149013420	6257140	4697	9165										
MAMLD1	10046	broad.mit.edu	37	chrX	149638113	149638113	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttaagaggccttgccttgaaGatgtcacccttgcaatgggc	11	10	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149638113G>T	ENST00000370401.2	+	4	578	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000432680.2_Missense_Mutation_p.D65Y|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Missense_Mutation_p.D90Y|MAMLD1_ENST00000426613.2_Missense_Mutation_p.D65Y			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	90					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)					TTGCCTTGAAGATGTCACCCT	0.502																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(268-270)Gat>Tat		mastermind-like domain containing 1							110	108	109					X																	149638113		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149638113G>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.268G>T	X.37:g.149638113G>T	ENSP00000359428:p.Asp90Tyr		Somatic				MAMLD1_ENST00000432680.2_Missense_Mutation_p.D65Y|MAMLD1_ENST00000262858.5_Missense_Mutation_p.D90Y|MAMLD1_ENST00000426613.2_Missense_Mutation_p.D65Y|MAMLD1_ENST00000468306.1_3'UTR	p.D90Y			WXS	Illumina GAIIx	Phase_I	Q13495	MAMD1_HUMAN			4	578	+	Acute lymphoblastic leukemia(192;6.56e-05)		90					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.268G>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301228	0.60195	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000358892;ENST00000262858;ENST00000426613	T;T;T;T	0.78003	-0.67;-1.14;-0.67;-0.7	5.36	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.86205	0.5877	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;P;D	0.91635	0.999;0.999;0.908;0.999	D	0.87350	0.2337	10	0.87932	D	0	-8.5593	15.2704	0.73696	0.0:0.1371:0.8629:0.0	.	52;65;65;90	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	Y	52;90;65;90;90;65	ENSP00000359428:D90Y;ENSP00000414517:D65Y;ENSP00000262858:D90Y;ENSP00000397438:D65Y	ENSP00000262858:D90Y	D	+	1	0	MAMLD1	149388771	1.000000	0.71417	0.907000	0.35723	0.934000	0.57294	5.770000	0.68873	1.022000	0.39626	0.600000	0.82982	GAT		0.502	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		45	99	1	0	6.7651e-33	1	9.6967e-33	45	99					T	149638113	G	T	149638113	3	4	48	1	0	0	0	0	1	0	0	0	9217	942	33	2	278	2	MAMLD1	23	149638113	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	624693	149638113	5632447	4698	9166										
MTM1	4534	broad.mit.edu	37	chrX	149764986	149764986	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcgagatggagtcaatcgaGatctcactgaggctgttcct	11	10	2	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149764986G>T	ENST00000370396.2	+	3	142	c.88G>T	c.(88-90)Gat>Tat	p.D30Y	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.D30Y|MTM1_ENST00000543350.1_5'UTR|MTM1_ENST00000542741.1_5'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	30	GRAM.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCAATCGAGATCTCACTGA	0.428																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(88-90)Gat>Tat		myotubularin 1							144	113	123					X																	149764986		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149764986G>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7448	protein-coding gene	gene with protein product		300415	"myotubular myopathy 1"				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.88G>T	X.37:g.149764986G>T	ENSP00000359423:p.Asp30Tyr		Somatic				MTM1_ENST00000413012.2_Missense_Mutation_p.D30Y|MTM1_ENST00000542741.1_5'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_5'UTR	p.D30Y	NM_000252.2	NP_000243.1	WXS	Illumina GAIIx	Phase_I	Q13496	MTM1_HUMAN			3	142	+	Acute lymphoblastic leukemia(192;6.56e-05)		30			GRAM.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.88G>T	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530457	0.64860	.	.	ENSG00000171100	ENST00000370396;ENST00000424519;ENST00000413012	D;D;D	0.96265	-3.92;-3.64;-3.96	5.68	5.68	0.88126	GRAM (1);	0.414762	0.28187	N	0.016277	D	0.95617	0.8575	L	0.29908	0.895	0.80722	D	1	P;P	0.48911	0.917;0.917	P;P	0.53266	0.722;0.722	D	0.96190	0.9137	10	0.62326	D	0.03	.	17.424	0.87522	0.0:0.0:1.0:0.0	.	30;30	B7Z491;Q13496	.;MTM1_HUMAN	Y	30	ENSP00000359423:D30Y;ENSP00000400699:D30Y;ENSP00000389157:D30Y	ENSP00000359423:D30Y	D	+	1	0	MTM1	149515644	1.000000	0.71417	0.027000	0.17364	0.736000	0.42039	5.796000	0.69080	2.383000	0.81215	0.538000	0.68166	GAT		0.428	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		15	18	1	0	0.000566183	1	0.00059967	15	18					T	149764986	G	T	149764986	3	4	48	1	0	0	0	0	1	0	0	0	9946	942	33	2	94	2	MTM1	23	149764986	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	126873	149764986	5505574	4699	9167										
MTMR1	8776	broad.mit.edu	37	chrX	149899985	149899985	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aatatccaaaataaacagtaAttatgagttctgtgacacct	5	7	1	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149899985A>G	ENST00000370390.3	+	8	918	c.761A>G	c.(760-762)aAt>aGt	p.N254S	MTMR1_ENST00000544228.1_Missense_Mutation_p.N254S|MTMR1_ENST00000451863.2_Missense_Mutation_p.N254S|MTMR1_ENST00000542156.1_Missense_Mutation_p.N254S|MTMR1_ENST00000538506.1_Missense_Mutation_p.N141S|MTMR1_ENST00000541925.1_Missense_Mutation_p.N160S|MTMR1_ENST00000445323.2_Missense_Mutation_p.N262S	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	254	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAACAGTAATTATGAGTTC	0.398																																						ENST00000445323.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(784-786)aAt>aGt		myotubularin related protein 1							133	126	128					X																	149899985		2203	4300	6503	SO:0001583	missense	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149899985A>G	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.761A>G	X.37:g.149899985A>G	ENSP00000359417:p.Asn254Ser		Somatic				MTMR1_ENST00000370390.3_Missense_Mutation_p.N254S|MTMR1_ENST00000451863.2_Missense_Mutation_p.N254S|MTMR1_ENST00000538506.1_Missense_Mutation_p.N141S|MTMR1_ENST00000541925.1_Missense_Mutation_p.N160S|MTMR1_ENST00000542156.1_Missense_Mutation_p.N254S|MTMR1_ENST00000544228.1_Missense_Mutation_p.N254S	p.N262S			WXS	Illumina GAIIx	Phase_I	Q13613	MTMR1_HUMAN			9	906	+	Acute lymphoblastic leukemia(192;6.56e-05)		254			Myotubularin phosphatase.		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	c.785A>G	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	A	8.903	0.956747	0.18507	.	.	ENSG00000063601	ENST00000541925;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78	5.63	0.426	0.16479	Myotubularin phosphatase domain (1);	0.483083	0.26045	N	0.026671	T	0.81654	0.4868	L	0.43646	1.37	0.09310	N	1	B;B;B	0.11235	0.0;0.002;0.004	B;B;B	0.13407	0.002;0.009;0.005	T	0.64381	-0.6421	9	.	.	.	.	2.1099	0.03700	0.3435:0.2631:0.2886:0.1048	.	254;262;254	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	S	160;254;254;262;254;254;141	ENSP00000441879:N160S;ENSP00000445281:N254S;ENSP00000359417:N254S;ENSP00000414178:N262S;ENSP00000440534:N254S;ENSP00000387446:N254S;ENSP00000443444:N141S	.	N	+	2	0	MTMR1	149650643	0.001000	0.12720	0.760000	0.31359	0.937000	0.57800	0.136000	0.15974	0.026000	0.15269	0.441000	0.28932	AAT		0.398	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		31	66	0	0	0	1	0	31	66					G	149899985	A	G	149899985	3	3	48	1	0	0	0	0	1	0	0	0	9947	101	4	4	791	4	MTMR1	23	149899985	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	134999	149899985	5370575	4700	9168										
CD99L2	83692	broad.mit.edu	37	chrX	149983348	149983348	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gacttacctcttcctcctatAcccggtttcctgcggccatc	6	17	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149983348A>G	ENST00000370377.3	-	4	381	c.264T>C	c.(262-264)ggT>ggC	p.G88G	CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000437787.2_Silent_p.G88G|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	88					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTCCTATACCCGGTTTCC	0.473																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(262-264)ggT>ggC		CD99 molecule-like 2							178	165	169					X																	149983348		2203	4300	6503	SO:0001819	synonymous_variant	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149983348A>G	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.264T>C	X.37:g.149983348A>G			Somatic				CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000437787.2_Silent_p.G88G|CD99L2_ENST00000355149.3_Intron	p.G88G	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	WXS	Illumina GAIIx	Phase_I	Q8TCZ2	C99L2_HUMAN			4	381	-	Acute lymphoblastic leukemia(192;6.56e-05)		88					A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Silent	SNP	ENST00000370377.3	37	c.264T>C	CCDS35427.1																																																																																				0.473	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		49	97	0	0	0	1	0	49	97					G	149983348	A	G	149983348	2	3	48	1	0	0	0	0	0	0	0	1	3053	378	14	4		4	CD99L2	23	149983348	Silent	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	83363	149983348	5287212	4701	9169										
HMGB3	3149	broad.mit.edu	37	chrX	150154631	150154631	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ccagctaagggaggcaagaaGaagaaggatcctaatgctcc	12	9	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:150154631G>A	ENST00000325307.7	+	3	354	c.258G>A	c.(256-258)aaG>aaA	p.K86K	HMGB3_ENST00000448905.2_Silent_p.K86K	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	86					DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCAAGAAGAAGAAGGATC	0.408																																						ENST00000325307.7																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(256-258)aaG>aaA		high mobility group box 3							41	35	37					X																	150154631		2203	4300	6503	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150154631G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.258G>A	X.37:g.150154631G>A			Somatic				HMGB3_ENST00000448905.2_Silent_p.K86K	p.K86K	NM_005342.2	NP_005333.2	WXS	Illumina GAIIx	Phase_I	O15347	HMGB3_HUMAN			3	354	+	Acute lymphoblastic leukemia(192;6.56e-05)		86					O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.258G>A	CCDS35428.1																																																																																				0.408	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		11	26	0	0	0	1	0	11	26					A	150154631	G	A	150154631	2	1	48	1	0	0	0	0	0	0	0	1	7236	933	33	3		3	HMGB3	23	150154631	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	171283	150154631	5115929	4702	9170										
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	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tcagggtcaatgcaagagttCgcattgcctacccatccctg	9	13	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	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_ENST00000370340.3_Missense_Mutation_p.R299C|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000393920.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000276344.2_Missense_Mutation_p.R299C	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	299	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGAGTTCGCATTGCCTA	0.567																																						ENST00000370340.3																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(895-897)Cgc>Tgc		melanoma antigen family A, 4							118	111	114					X																	151093031		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151093031C>T		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"melanoma-associated antigen 4", "cancer/testis antigen family 1, member 4"	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.895C>T	X.37:g.151093031C>T	ENSP00000353379:p.Arg299Cys		Somatic				MAGEA4_ENST00000276344.2_Missense_Mutation_p.R299C|MAGEA4_ENST00000370337.4_Missense_Mutation_p.R299C|MAGEA4_ENST00000360243.2_Missense_Mutation_p.R299C|MAGEA4_ENST00000393920.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000370335.1_Missense_Mutation_p.R299C	p.R299C			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		67	142	0	0	0	1	0	67	142					T	151093031	C	T	151093031	3	4	48	1	0	0	0	0	1	0	0	0	9177	884	31	1	897	1	MAGEA4	23	151093031	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	938400	151093031	4177529	4703	9171										
GABRA3	2556	broad.mit.edu	37	chrX	151358217	151358217	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcaccttcatctccagggcCtctggcaccttcttgccttc	6	18	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:151358217C>A	ENST00000370314.4	-	9	1366	c.1128G>T	c.(1126-1128)gaG>gaT	p.E376D	GABRA3_ENST00000497894.1_5'UTR|RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.E376D	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	376					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCTCCAGGGCCTCTGGCACCT	0.502																																					NSCLC(142;2578 2613 10251 16743)	ENST00000370314.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(1126-1128)gaG>gaT		gamma-aminobutyric acid (GABA) A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						78	78	78					X																	151358217		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151358217C>A		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4077	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 3"	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1128G>T	X.37:g.151358217C>A	ENSP00000359337:p.Glu376Asp		Somatic				GABRA3_ENST00000535043.1_Missense_Mutation_p.E376D|GABRA3_ENST00000497894.1_5'UTR|GABRA3_ENST00000370311.1_Missense_Mutation_p.E376D	p.E376D	NM_000808.3	NP_000799.1	WXS	Illumina GAIIx	Phase_I	P34903	GBRA3_HUMAN			9	1366	-	Acute lymphoblastic leukemia(192;6.56e-05)		376					Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.1128G>T	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133434	0.37630	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.85955	-2.05;-2.05;-2.05	5.82	3.12	0.35913	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.077380	0.07044	N	0.830584	D	0.83207	0.5204	N	0.11427	0.14	0.45515	D	0.998478	D	0.57257	0.979	D	0.74023	0.982	T	0.71862	-0.4464	10	0.22109	T	0.4	.	7.7851	0.29087	0.0:0.6541:0.0:0.3459	.	376	P34903	GBRA3_HUMAN	D	376	ENSP00000359337:E376D;ENSP00000359334:E376D;ENSP00000443527:E376D	ENSP00000359334:E376D	E	-	3	2	GABRA3	151108873	0.998000	0.40836	1.000000	0.80357	0.974000	0.67602	0.525000	0.22956	0.628000	0.30357	0.597000	0.82753	GAG		0.502	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		33	46	1	0	6.00712e-18	1	8.10414e-18	33	46					A	151358217	C	A	151358217	3	1	48	1	0	0	0	0	1	0	0	0	6170	680	24	5	358	5	GABRA3	23	151358217	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	265186	151358217	3912343	4704	9172										
GABRA3	2556	broad.mit.edu	37	chrX	151424408	151424408	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agtggaaggatcttcatgggGccatcaaatttcagtctttc	10	8	5	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:151424408G>A	ENST00000370314.4	-	5	631	c.393C>T	c.(391-393)ggC>ggT	p.G131G	GABRA3_ENST00000535043.1_Silent_p.G131G	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	131					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCTTCATGGGGCCATCAAATT	0.428																																					NSCLC(142;2578 2613 10251 16743)	ENST00000370314.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(391-393)ggC>ggT		gamma-aminobutyric acid (GABA) A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						160	131	141					X																	151424408		2203	4300	6503	SO:0001819	synonymous_variant	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151424408G>A		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4077	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 3"	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.393C>T	X.37:g.151424408G>A			Somatic				GABRA3_ENST00000535043.1_Silent_p.G131G|GABRA3_ENST00000370311.1_Silent_p.G131G	p.G131G	NM_000808.3	NP_000799.1	WXS	Illumina GAIIx	Phase_I	P34903	GBRA3_HUMAN			5	631	-	Acute lymphoblastic leukemia(192;6.56e-05)		131					Q8TAF9	Silent	SNP	ENST00000370314.4	37	c.393C>T	CCDS14706.1																																																																																				0.428	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		27	83	0	0	0	1	0	27	83					A	151424408	G	A	151424408	2	1	48	1	0	0	0	0	0	0	0	1	6170	1190	42	3		3	GABRA3	23	151424408	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	66191	151424408	3846152	4705	9173										
MAGEA6	4105	broad.mit.edu	37	chrX	151869775	151869775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gtgatcttcagcaaagcttcCgattccttgcagctggtctt	9	11	3	1	rs368081573		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:151869775C>T	ENST00000329342.5	+	3	690	c.465C>T	c.(463-465)tcC>tcT	p.S155S		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	155	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)					GCAAAGCTTCCGATTCCTTGC	0.552																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(463-465)tcC>tcT		melanoma antigen family A, 6		C	,	0,3834		0,0,1632,570	148	129	136		465,465	-1.2	0	X		136	1,6726		0,1,2427,1871	no	coding-synonymous,coding-synonymous	MAGEA6	NM_005363.2,NM_175868.1	,	0,1,4059,2441	TT,TC,CC,C		0.0149,0.0,0.0095	,	155/315,155/315	151869775	1,10560	2202	4299	6501	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151869775C>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.465C>T	X.37:g.151869775C>T			Somatic					p.S155S	NM_005363.2	NP_005354.1	WXS	Illumina GAIIx	Phase_I	P43360	MAGA6_HUMAN			3	690	+	Acute lymphoblastic leukemia(192;6.56e-05)		155			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.465C>T	CCDS14708.1																																																																																				0.552	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		46	126	0	0	0	1	0	46	126					T	151869775	C	T	151869775	2	4	48	1	0	0	0	0	0	0	0	1	9179	639	23	1		1	MAGEA6	23	151869775	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	445367	151869775	3400785	4706	9174										
MAGEA3	4102	broad.mit.edu	37	chrX	151935896	151935896	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggtgcttggcccctcctcttCttggttgctggagtcctcat	11	13	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:151935896C>A	ENST00000393902.3	-	3	838	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	MAGEA3_ENST00000370278.3_Nonsense_Mutation_p.E91*			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	91										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCCTCTTCTTGGTTGCTG	0.567																																						ENST00000393902.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(271-273)Gaa>Taa		melanoma antigen family A, 3							82	76	78					X																	151935896		2202	4289	6491	SO:0001587	stop_gained	4102							g.chrX:151935896C>A		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"melanoma-associated antigen 3", "antigen MZ2-D", "MAGE-3 antigen", "cancer/testis antigen family 1, member 3"	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.271G>T	X.37:g.151935896C>A	ENSP00000377480:p.Glu91*		Somatic				MAGEA3_ENST00000370278.3_Nonsense_Mutation_p.E91*	p.E91*			WXS	Illumina GAIIx	Phase_I	P43357	MAGA3_HUMAN			3	838	-	Acute lymphoblastic leukemia(192;6.56e-05)		91					Q6FHI6	Nonsense_Mutation	SNP	ENST00000393902.3	37	c.271G>T	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	t	22.4	4.279997	0.80692	.	.	ENSG00000221867	ENST00000370278;ENST00000393902;ENST00000417212	.	.	.	1.1	-2.19	0.07015	.	2.068740	0.01701	N	0.027179	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	5.4052	0.16318	0.0:0.3549:0.0:0.6451	.	.	.	.	X	91	.	ENSP00000359301:E91X	E	-	1	0	MAGEA3	151686552	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.849000	0.04322	-1.222000	0.02587	-1.688000	0.00730	GAA		0.567	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		49	88	1	0	7.34454e-26	1	1.03635e-25	49	88					A	151935896	C	A	151935896	4	1	48	1	0	0	0	0	0	1	0	0	9176	922	32	2	677	2	MAGEA3	23	151935896	Nonsense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	66121	151935896	3334664	4707	9175										
PNMA5	114824	broad.mit.edu	37	chrX	152159547	152159547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacgtaagctctccagcaaaCgccgcctcttctccacctca	5	19	4	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152159547C>T	ENST00000439251.1	-	2	1034	c.596G>A	c.(595-597)cGt>cAt	p.R199H	PNMA5_ENST00000361887.5_Missense_Mutation_p.R199H|PNMA5_ENST00000452693.1_Missense_Mutation_p.R199H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R199H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	199					positive regulation of apoptotic process (GO:0043065)					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)					CTCCAGCAAACGCCGCCTCTT	0.557																																						ENST00000439251.1																			0				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.(595-597)cGt>cAt		paraneoplastic Ma antigen family member 5							83	73	76					X																	152159547		2203	4300	6503	SO:0001583	missense	114824				apoptosis			g.chrX:152159547C>T	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.596G>A	X.37:g.152159547C>T	ENSP00000388850:p.Arg199His		Somatic				PNMA5_ENST00000452693.1_Missense_Mutation_p.R199H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R199H|PNMA5_ENST00000361887.5_Missense_Mutation_p.R199H	p.R199H	NM_001103150.1	NP_001096620.1	WXS	Illumina GAIIx	Phase_I	Q96PV4	PNMA5_HUMAN			2	1034	-	Acute lymphoblastic leukemia(192;6.56e-05)		199					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.596G>A	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.719845	0.48728	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	3.05	2.18	0.27775	.	.	.	.	.	T	0.30008	0.0751	M	0.82716	2.605	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.05037	-1.0910	9	0.54805	T	0.06	.	5.562	0.17150	0.0:0.8415:0.0:0.1585	.	199	Q96PV4	PNMA5_HUMAN	H	199	ENSP00000354834:R199H;ENSP00000445775:R199H;ENSP00000388850:R199H;ENSP00000392342:R199H	ENSP00000354834:R199H	R	-	2	0	PNMA5	151910203	0.007000	0.16637	0.002000	0.10522	0.054000	0.15201	1.923000	0.40055	0.701000	0.31803	0.468000	0.43344	CGT		0.557	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		32	84	0	0	0	1	0	32	84					T	152159547	C	T	152159547	3	4	48	1	0	0	0	0	1	0	0	0	12165	536	19	1	754	1	PNMA5	23	152159547	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	223651	152159547	3111013	4708	9176										
PNMA3	29944	broad.mit.edu	37	chrX	152226514	152226514	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctggggttggggcagtacctCtccctgcctctggcaacagt	13	13	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152226514C>A	ENST00000370264.4	+	1	1128	c.1102C>A	c.(1102-1104)Ctc>Atc	p.L368I	PNMA3_ENST00000447306.1_Missense_Mutation_p.L368I|PNMA3_ENST00000370265.4_Missense_Mutation_p.L368I			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	368					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					GGCAGTACCTCTCCCTGCCTC	0.637																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(1102-1104)Ctc>Atc		paraneoplastic Ma antigen 3							26	29	28					X																	152226514		2203	4300	6503	SO:0001583	missense	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226514C>A	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"Paraneoplastic Ma antigens"	18742	protein-coding gene	gene with protein product	"paraneoplastic cancer-testis-brain antigen"	300675	"paraneoplastic antigen MA3"			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.1102C>A	X.37:g.152226514C>A	ENSP00000359286:p.Leu368Ile		Somatic				PNMA3_ENST00000370265.4_Missense_Mutation_p.L368I|PNMA3_ENST00000370264.4_Missense_Mutation_p.L368I	p.L368I	NM_013364.4	NP_037496.3	WXS	Illumina GAIIx	Phase_I	Q9UL41	PNMA3_HUMAN			2	1438	+	Acute lymphoblastic leukemia(192;6.56e-05)		368					D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	c.1102C>A	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	c	1.656	-0.512776	0.04200	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.15718	2.41;2.4;2.4	2.06	-0.00728	0.14010	.	.	.	.	.	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41233	-0.9520	9	0.19147	T	0.46	.	3.3411	0.07119	0.0:0.2459:0.4269:0.3272	.	368	Q9UL41	PNMA3_HUMAN	I	368	ENSP00000359288:L368I;ENSP00000407642:L368I;ENSP00000359286:L368I	ENSP00000359286:L368I	L	+	1	0	PNMA3	151977170	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.383000	0.07398	-0.081000	0.12662	-0.612000	0.04053	CTC		0.637	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		10	60	1	0	7.48243e-07	1	8.49459e-07	10	60					A	152226514	C	A	152226514	3	1	48	1	0	0	0	0	1	0	0	0	12164	913	32	2	1104	2	PNMA3	23	152226514	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	66967	152226514	3044046	4709	9177										
MAGEA1	4100	broad.mit.edu	37	chrX	152482977	152482977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggcctcaagggcttcctcagGcttgcagtgcagactcctct	11	14	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152482977G>A	ENST00000356661.5	-	3	252	c.34C>T	c.(34-36)Cct>Tct	p.P12S		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	12					negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCCTCAGGCTTGCAGTGC	0.627																																						ENST00000356661.5																			0				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(34-36)Cct>Tct		melanoma antigen family A, 1 (directs expression of antigen MZ2-E)							56	62	60					X																	152482977		2203	4300	6503	SO:0001583	missense	4100					cytoplasm|plasma membrane		g.chrX:152482977G>A		CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"melanoma-associated antigen 1", "melanoma-associated antigen MZ2-E", "melanoma antigen MAGE-1", "melanoma antigen family A 1", "cancer/testis antigen family 1, member 1"	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.34C>T	X.37:g.152482977G>A	ENSP00000349085:p.Pro12Ser		Somatic					p.P12S	NM_004988.4	NP_004979.3	WXS	Illumina GAIIx	Phase_I	P43355	MAGA1_HUMAN			3	252	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		12					B2RC81|O00346	Missense_Mutation	SNP	ENST00000356661.5	37	c.34C>T	CCDS14720.1	.	.	.	.	.	.	.	.	.	.	g	6.412	0.444131	0.12164	.	.	ENSG00000198681	ENST00000356661	T	0.04360	3.64	1.27	-2.53	0.06326	Melanoma associated antigen, MAGE, N-terminal (1);	8.280160	0.00166	N	0.000000	T	0.19805	0.0476	M	0.87456	2.885	0.09310	N	1	D	0.62365	0.991	D	0.65987	0.94	T	0.39563	-0.9608	10	0.22706	T	0.39	.	5.4519	0.16570	0.5608:0.0:0.4392:0.0	.	12	P43355	MAGA1_HUMAN	S	12	ENSP00000349085:P12S	ENSP00000349085:P12S	P	-	1	0	MAGEA1	152136171	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.850000	0.04317	-1.112000	0.02984	0.183000	0.17082	CCT		0.627	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988		14	119	0	0	0	1	0	14	119					A	152482977	G	A	152482977	3	1	48	1	0	0	0	0	1	0	0	0	9172	1203	42	3	899	3	MAGEA1	23	152482977	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	256463	152482977	2787583	4710	9178										
ATP2B3	492	broad.mit.edu	37	chrX	152845520	152845520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctccattcacaacttcatgGccacgcccgagtttctgatc	6	16	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152845520G>A	ENST00000349466.2	+	21	3753	c.3427G>A	c.(3427-3429)Gcc>Acc	p.A1143T	ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000263519.4_Missense_Mutation_p.A1143T			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1143					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAACTTCATGGCCACGCCCGA	0.592																																						ENST00000263519.4																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(3427-3429)Gcc>Acc		ATPase, Ca++ transporting, plasma membrane 3							170	148	155					X																	152845520		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152845520G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.3427G>A	X.37:g.152845520G>A	ENSP00000343886:p.Ala1143Thr		Somatic				ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000349466.2_Missense_Mutation_p.A1143T|ATP2B3_ENST00000370181.2_3'UTR	p.A1143T	NM_001001344.2	NP_001001344.1	WXS	Illumina GAIIx	Phase_I	Q16720	AT2B3_HUMAN			20	3553	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1143					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.3427G>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	g	4.545	0.101192	0.08731	.	.	ENSG00000067842	ENST00000349466;ENST00000263519	T;T	0.75589	-0.95;-0.95	5.02	4.0	0.46444	.	0.377508	0.25708	N	0.028827	T	0.39759	0.1090	N	0.02202	-0.64	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.32745	-0.9895	10	0.05620	T	0.96	-5.4007	4.0493	0.09788	0.6215:0.0:0.3785:0.0	.	1129;1143	Q16720-4;Q16720	.;AT2B3_HUMAN	T	1143	ENSP00000343886:A1143T;ENSP00000263519:A1143T	ENSP00000263519:A1143T	A	+	1	0	ATP2B3	152498714	1.000000	0.71417	0.992000	0.48379	0.954000	0.61252	2.534000	0.45676	0.835000	0.34877	0.525000	0.51046	GCC		0.592	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		92	220	0	0	0	1	0	92	220					A	152845520	G	A	152845520	3	1	48	1	0	0	0	0	1	0	0	0	1141	1203	42	3	3663	3	ATP2B3	23	152845520	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	362543	152845520	2425040	4711	9179										
PNCK	139728	broad.mit.edu	37	chrX	152936421	152936421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tgaacctcttctgggggtctCgctccagaaggtgccggatg	14	11	3	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152936421C>T	ENST00000370150.1	-	9	936	c.758G>A	c.(757-759)cGa>cAa	p.R253Q	PNCK_ENST00000370145.4_Missense_Mutation_p.R270Q|PNCK_ENST00000340888.3_Missense_Mutation_p.R253Q|PNCK_ENST00000447676.2_Missense_Mutation_p.R336Q|PNCK_ENST00000370142.1_Missense_Mutation_p.R276Q|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000393831.2_Missense_Mutation_p.R276Q			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGGTCTCGCTCCAGAAG	0.642																																						ENST00000393831.2																			0				breast(2)|lung(3)|skin(1)	6						c.(826-828)cGa>cAa		pregnancy up-regulated nonubiquitous CaM kinase							60	58	59					X																	152936421		2203	4300	6503	SO:0001583	missense	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152936421C>T	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"pregnancy upregulated non-ubiquitously expressed CaM kinase", "pregnancy up-regulated non-ubiquitously expressed CaM kinase"			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.758G>A	X.37:g.152936421C>T	ENSP00000359169:p.Arg253Gln		Somatic				PNCK_ENST00000340888.3_Missense_Mutation_p.R253Q|PNCK_ENST00000447676.2_Missense_Mutation_p.R336Q|PNCK_ENST00000370145.4_Missense_Mutation_p.R270Q|PNCK_ENST00000370142.1_Missense_Mutation_p.R276Q|PNCK_ENST00000370150.1_Missense_Mutation_p.R253Q	p.R276Q	NM_001039582.3	NP_001034671.3	WXS	Illumina GAIIx	Phase_I	Q6P2M8	KCC1B_HUMAN			9	1261	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		253					B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.827G>A		.	.	.	.	.	.	.	.	.	.	c	17.87	3.494414	0.64186	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676	T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82	4.4	4.4	0.53042	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	0.52532	D	0.000068	T	0.42154	0.1190	L	0.52759	1.655	0.34398	D	0.694911	D;D;D	0.76494	0.999;0.993;0.993	P;P;P	0.61940	0.896;0.738;0.738	T	0.57763	-0.7755	10	0.56958	D	0.05	-5.5925	15.2604	0.73617	0.0:1.0:0.0:0.0	.	336;270;253	Q6P2M8-5;B4E1A6;Q6P2M8	.;.;KCC1B_HUMAN	Q	253;253;276;276;270;336	ENSP00000340586:R253Q;ENSP00000359169:R253Q;ENSP00000377417:R276Q;ENSP00000359161:R276Q;ENSP00000359164:R270Q;ENSP00000405950:R336Q	ENSP00000340586:R253Q	R	-	2	0	PNCK	152589615	0.995000	0.38212	0.895000	0.35142	0.948000	0.59901	2.127000	0.42035	1.924000	0.55735	0.529000	0.55759	CGA		0.642	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		40	73	0	0	0	1	0	40	73					T	152936421	C	T	152936421	3	4	48	1	0	0	0	0	1	0	0	0	12154	884	31	1	285	1	PNCK	23	152936421	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	90901	152936421	2334139	4712	9180										
SSR4	6748	broad.mit.edu	37	chrX	153063544	153063544	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	aggctcagaggaataacgagGacatttccatcatcccgcct	9	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153063544G>A	ENST00000320857.3	+	6	1454	c.370G>A	c.(370-372)Gac>Aac	p.D124N	SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370085.3_Missense_Mutation_p.D99N|SSR4_ENST00000370086.3_Missense_Mutation_p.D124N|SSR4_ENST00000370087.1_Missense_Mutation_p.D124N	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta	124					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|Sec61 translocon complex (GO:0005784)				central_nervous_system(1)|endometrium(1)|lung(2)	4	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)					GAATAACGAGGACATTTCCAT	0.602																																						ENST00000320857.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)	4						c.(370-372)Gac>Aac		signal sequence receptor, delta							220	199	206					X																	153063544		2203	4300	6503	SO:0001583	missense	6748				intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding	g.chrX:153063544G>A	BC032351	CCDS14731.1	Xq28	2011-08-31	2011-08-31		ENSG00000180879	ENSG00000180879			11326	protein-coding gene	gene with protein product	"translocon-associated protein delta"	300090				9286695	Standard	NM_001204526		Approved	TRAPD	uc022chw.1	P51571	OTTHUMG00000024212	ENST00000320857.3:c.370G>A	X.37:g.153063544G>A	ENSP00000317331:p.Asp124Asn		Somatic				SSR4_ENST00000370087.1_Missense_Mutation_p.D124N|SSR4_ENST00000370085.3_Missense_Mutation_p.D99N|SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370086.3_Missense_Mutation_p.D124N	p.D124N	NM_001204526.1	NP_001191455.1	WXS	Illumina GAIIx	Phase_I	P51571	SSRD_HUMAN			6	1454	+	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)		124					A8K378|Q53XY1	Missense_Mutation	SNP	ENST00000320857.3	37	c.370G>A	CCDS14731.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021423	0.93462	.	.	ENSG00000180879	ENST00000320857;ENST00000370087;ENST00000370086;ENST00000370085	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.67183	0.2866	M	0.80183	2.485	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.60173	0.87;0.828	T	0.69680	-0.5080	10	0.48119	T	0.1	-32.694	15.6582	0.77158	0.0:0.0:1.0:0.0	.	124;99	P51571;A6NLM8	SSRD_HUMAN;.	N	124;124;124;99	ENSP00000317331:D124N;ENSP00000359104:D124N;ENSP00000359103:D124N;ENSP00000359102:D99N	ENSP00000317331:D124N	D	+	1	0	SSR4	152716738	1.000000	0.71417	0.462000	0.27118	0.917000	0.54804	8.252000	0.89840	2.409000	0.81822	0.529000	0.55759	GAC		0.602	SSR4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061029.1	NM_006280		66	151	0	0	0	1	0	66	151					A	153063544	G	A	153063544	3	1	48	1	0	0	0	0	1	0	0	0	15208	1174	41	3	388	3	SSR4	23	153063544	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	127123	153063544	2207016	4713	9181										
L1CAM	3897	broad.mit.edu	37	chrX	153135092	153135092	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gatcagggcgccacgctgaaTccggtacttctggtctttgg	13	11	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153135092T>C	ENST00000370060.1	-	11	1339	c.1150A>G	c.(1150-1152)Att>Gtt	p.I384V	L1CAM_ENST00000370055.1_Missense_Mutation_p.I379V|L1CAM_ENST00000361699.4_Missense_Mutation_p.I384V|L1CAM_ENST00000543994.1_Missense_Mutation_p.I386V|L1CAM_ENST00000361981.3_Missense_Mutation_p.I379V|L1CAM_ENST00000370057.3_Missense_Mutation_p.I384V|L1CAM_ENST00000538883.1_Missense_Mutation_p.I386V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	384	Ig-like C2-type 4.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCACGCTGAATCCGGTACTTC	0.632																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1150-1152)Att>Gtt		L1 cell adhesion molecule							83	69	74					X																	153135092		2202	4298	6500	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153135092T>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.1150A>G	X.37:g.153135092T>C	ENSP00000359077:p.Ile384Val		Somatic				L1CAM_ENST00000370057.3_Missense_Mutation_p.I384V|L1CAM_ENST00000370055.1_Missense_Mutation_p.I379V|L1CAM_ENST00000543994.1_Missense_Mutation_p.I386V|L1CAM_ENST00000538883.1_Missense_Mutation_p.I386V|L1CAM_ENST00000361699.4_Missense_Mutation_p.I384V|L1CAM_ENST00000361981.3_Missense_Mutation_p.I379V	p.I384V	NM_001278116.1	NP_001265045.1	WXS	Illumina GAIIx	Phase_I	P32004	L1CAM_HUMAN			11	1339	-	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)		384			Ig-like C2-type 4.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1150A>G	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	T	6.328	0.428606	0.11987	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.49	4.35	0.52113	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.301431	0.28778	N	0.014165	T	0.28234	0.0697	N	0.02685	-0.53	0.09310	N	1	B;B;B	0.14438	0.002;0.008;0.01	B;B;B	0.17722	0.002;0.011;0.019	T	0.33624	-0.9861	10	0.02654	T	1	.	5.1958	0.15236	0.0:0.2285:0.0:0.7715	.	379;384;384	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	384;386;384;386;379;379;384	ENSP00000359077:I384V;ENSP00000438430:I386V;ENSP00000359074:I384V;ENSP00000439645:I386V;ENSP00000354712:I379V;ENSP00000359072:I379V;ENSP00000355380:I384V	ENSP00000355380:I384V	I	-	1	0	L1CAM	152788286	0.549000	0.26481	0.057000	0.19452	0.862000	0.49288	1.027000	0.30115	1.826000	0.53198	0.393000	0.25936	ATT		0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		3	32	0	0	0	1	0	3	32					C	153135092	T	C	153135092	3	2	48	1	0	0	0	0	1	0	0	0	8597	1435	50	4	2699	4	L1CAM	23	153135092	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	71548	153135092	2135468	4714	9182										
NAA10	8260	broad.mit.edu	37	chrX	153195617	153195617	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cctttgctctccaccttgttCtcgatggcacccagcaccac	6	18	2	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153195617C>A	ENST00000464845.1	-	8	849	c.531G>T	c.(529-531)gaG>gaT	p.E177D	NAA10_ENST00000370009.1_Missense_Mutation_p.E162D|NAA10_ENST00000393712.3_3'UTR|NAA10_ENST00000393710.3_5'Flank|NAA10_ENST00000370015.4_3'UTR	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	177					DNA packaging (GO:0006323)|internal protein amino acid acetylation (GO:0006475)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleolus (GO:0005730)|nucleus (GO:0005634)	N-acetyltransferase activity (GO:0008080)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						CCACCTTGTTCTCGATGGCAC	0.627																																					Ovarian(94;1099 1433 38814 45882 51063)	ENST00000464845.1																			0				breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						c.(529-531)gaG>gaT		N(alpha)-acetyltransferase 10, NatA catalytic subunit							123	96	105					X																	153195617		2203	4300	6503	SO:0001583	missense	8260				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chrX:153195617C>A	BC000308	CCDS14737.1, CCDS59179.1	Xq28	2010-05-07	2010-01-14	2010-01-14	ENSG00000102030	ENSG00000102030	2.3.1.88	"N(alpha)-acetyltransferase subunits"	18704	protein-coding gene	gene with protein product		300013	"ARD1 homolog, N-acetyltransferase (S. cerevisiae)", "ARD1 homolog A, N-acetyltransferase (S. cerevisiae)"	ARD1, ARD1A		7981673, 19660095	Standard	NM_003491		Approved	DXS707, TE2	uc004fjm.2	P41227	OTTHUMG00000024225	ENST00000464845.1:c.531G>T	X.37:g.153195617C>A	ENSP00000417763:p.Glu177Asp		Somatic				NAA10_ENST00000370015.4_3'UTR|NAA10_ENST00000370009.1_Missense_Mutation_p.E162D|NAA10_ENST00000393712.3_3'UTR	p.E177D	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	WXS	Illumina GAIIx	Phase_I	P41227	NAA10_HUMAN			8	849	-			177					A6NM98	Missense_Mutation	SNP	ENST00000464845.1	37	c.531G>T	CCDS14737.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554782	0.45487	.	.	ENSG00000102030	ENST00000464845;ENST00000370009	T;T	0.58797	0.31;0.35	4.61	3.74	0.42951	.	0.059055	0.64402	D	0.000004	T	0.41534	0.1163	L	0.39898	1.24	0.41541	D	0.988513	P;P	0.41041	0.736;0.736	B;B	0.35550	0.205;0.205	T	0.23797	-1.0178	10	0.33141	T	0.24	-27.914	7.3575	0.26727	0.0:0.7922:0.0:0.2078	.	162;177	A6NM98;P41227	.;NAA10_HUMAN	D	177;162	ENSP00000417763:E177D;ENSP00000359026:E162D	ENSP00000359026:E162D	E	-	3	2	NAA10	152848811	1.000000	0.71417	0.996000	0.52242	0.926000	0.56050	1.785000	0.38684	0.945000	0.37605	0.523000	0.50628	GAG		0.627	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061108.2	NM_003491		31	58	1	0	3.90053e-15	1	5.12206e-15	31	58					A	153195617	C	A	153195617	3	1	48	1	0	0	0	0	1	0	0	0	10125	912	32	2	180	2	NAA10	23	153195617	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	60525	153195617	2074943	4715	9183										
RENBP	5973	broad.mit.edu	37	chrX	153207461	153207461	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ttgccaccctctgacacattCtccagcacagcttgtccatc	5	17	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153207461C>A	ENST00000393700.3	-	7	791	c.711G>T	c.(709-711)gaG>gaT	p.E237D	RENBP_ENST00000412763.1_Intron|RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000369997.3_Missense_Mutation_p.E223D	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	237					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	CTGACACATTCTCCAGCACAG	0.627																																						ENST00000393700.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(709-711)gaG>gaT		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						113	96	101					X																	153207461		2203	4300	6503	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153207461C>A		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"N-acylglucosamine 2-epimerase", "GlcNAc 2-epimerase", "N-acetyl-D-glucosamine 2-epimerase"	312420	"renin-binding protein"			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.711G>T	X.37:g.153207461C>A	ENSP00000377303:p.Glu237Asp		Somatic				RENBP_ENST00000369997.3_Missense_Mutation_p.E223D|RENBP_ENST00000412763.1_Intron	p.E237D	NM_002910.5	NP_002901.2	WXS	Illumina GAIIx	Phase_I	P51606	RENBP_HUMAN			7	791	-	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)		237					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.711G>T	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	c	23.1	4.371891	0.82573	.	.	ENSG00000102032	ENST00000393700;ENST00000369997	T;T	0.56103	0.48;0.48	4.92	4.92	0.64577	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.72277	0.3440	M	0.92738	3.34	0.80722	D	1	P	0.52061	0.95	P	0.56700	0.804	T	0.78653	-0.2120	10	0.87932	D	0	-31.472	9.8154	0.40849	0.0:0.9006:0.0:0.0994	.	237	P51606	RENBP_HUMAN	D	237;223	ENSP00000377303:E237D;ENSP00000359014:E223D	ENSP00000359014:E223D	E	-	3	2	RENBP	152860655	1.000000	0.71417	0.980000	0.43619	0.932000	0.56968	0.881000	0.28173	2.018000	0.59344	0.429000	0.28392	GAG		0.627	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		53	94	1	0	4.88482e-21	1	6.72725e-21	53	94					A	153207461	C	A	153207461	3	1	48	1	0	0	0	0	1	0	0	0	13240	912	32	2	592	2	RENBP	23	153207461	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	11844	153207461	2063099	4716	9184										
HCFC1	3054	broad.mit.edu	37	chrX	153220472	153220472	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgctggtggttggcgccgacGctcgacatggctgtagtggc	17	11	0	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153220472G>A	ENST00000310441.7	-	17	4344	c.3378C>T	c.(3376-3378)agC>agT	p.S1126S	HCFC1_ENST00000354233.3_Silent_p.S1057S|HCFC1_ENST00000369984.4_Silent_p.S1126S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1126					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)					TGGCGCCGACGCTCGACATGG	0.687																																						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.(3376-3378)agC>agT		host cell factor C1 (VP16-accessory protein)							21	29	26					X																	153220472		2161	4232	6393	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:153220472G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3378C>T	X.37:g.153220472G>A			Somatic				HCFC1_ENST00000354233.3_Silent_p.S1057S|HCFC1_ENST00000369984.4_Silent_p.S1126S	p.S1126S	NM_005334.2	NP_005325.2	WXS	Illumina GAIIx	Phase_I	P51610	HCFC1_HUMAN			17	4344	-	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)		1126					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.3378C>T	CCDS44020.1																																																																																				0.687	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		14	30	0	0	0	1	0	14	30					A	153220472	G	A	153220472	2	1	48	1	0	0	0	0	0	0	0	1	7000	1078	38	1		1	HCFC1	23	153220472	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	13011	153220472	2050088	4717	9185										
HCFC1	3054	broad.mit.edu	37	chrX	153227718	153227718	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggagactgcgaggaagaggcGccaccccgctgagactgggc	17	12	0	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153227718G>A	ENST00000310441.7	-	5	1718	c.752C>T	c.(751-753)gCg>gTg	p.A251V	HCFC1_ENST00000369984.4_Missense_Mutation_p.A251V|HCFC1_ENST00000354233.3_Missense_Mutation_p.A251V|HCFC1_ENST00000461098.1_5'UTR	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	251					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)					AGGAAGAGGCGCCACCCCGCT	0.597																																						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.(751-753)gCg>gTg		host cell factor C1 (VP16-accessory protein)							60	61	61					X																	153227718		2118	4200	6318	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:153227718G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.752C>T	X.37:g.153227718G>A	ENSP00000309555:p.Ala251Val		Somatic				HCFC1_ENST00000354233.3_Missense_Mutation_p.A251V|HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000369984.4_Missense_Mutation_p.A251V	p.A251V	NM_005334.2	NP_005325.2	WXS	Illumina GAIIx	Phase_I	P51610	HCFC1_HUMAN			5	1718	-	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)		251					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.752C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620880	0.87460	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.66099	-0.19;-0.19;0.96	5.61	5.61	0.85477	Kelch-type beta propeller (1);	0.049249	0.85682	D	0.000000	T	0.49575	0.1565	N	0.11427	0.14	0.80722	D	1	P	0.35468	0.503	B	0.39590	0.304	T	0.54886	-0.8226	10	0.46703	T	0.11	.	17.3027	0.87186	0.0:0.0:1.0:0.0	.	251	P51610	HCFC1_HUMAN	V	251	ENSP00000309555:A251V;ENSP00000359001:A251V;ENSP00000346174:A251V	ENSP00000309555:A251V	A	-	2	0	HCFC1	152880912	1.000000	0.71417	0.912000	0.35992	0.951000	0.60555	4.498000	0.60373	2.353000	0.79882	0.529000	0.55759	GCG		0.597	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		13	20	0	0	0	1	0	13	20					A	153227718	G	A	153227718	3	1	48	1	0	0	0	0	1	0	0	0	7000	1087	38	1	5443	1	HCFC1	23	153227718	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	7246	153227718	2042842	4718	9186										
FLNA	2316	broad.mit.edu	37	chrX	153581372	153581372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	gggcagccactgcctacctgCatcgcgggtatcaatgataa	11	12	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153581372C>T	ENST00000369850.3	-	38	6459	c.6223G>A	c.(6223-6225)Gca>Aca	p.A2075T	FLNA_ENST00000369856.3_Missense_Mutation_p.A208T|FLNA_ENST00000344736.4_Missense_Mutation_p.A2035T|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000360319.4_Missense_Mutation_p.A2067T|FLNA_ENST00000422373.1_Missense_Mutation_p.A2067T	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2075					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCTACCTGCATCGCGGGTA	0.602																																						ENST00000422373.1																			0				breast(6)	6						c.(6199-6201)Gca>Aca		filamin A, alpha							38	40	40					X																	153581372		1962	4126	6088	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153581372C>T	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.6223G>A	X.37:g.153581372C>T	ENSP00000358866:p.Ala2075Thr		Somatic				FLNA_ENST00000360319.4_Missense_Mutation_p.A2067T|FLNA_ENST00000369850.3_Missense_Mutation_p.A2075T|FLNA_ENST00000344736.4_Missense_Mutation_p.A2035T|FLNA_ENST00000369856.3_Missense_Mutation_p.A208T	p.A2067T	NM_001456.3	NP_001447.2	WXS	Illumina GAIIx	Phase_I	P21333	FLNA_HUMAN			37	6447	-	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)		2075					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.6199G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909110	0.92107	.	.	ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736;ENST00000444578	D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	5.5	4.65	0.58169	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95050	0.8397	H	0.94462	3.54	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.985;0.998;0.998	D;P;D;D	0.97110	1.0;0.74;0.937;0.937	D	0.95743	0.8785	10	0.87932	D	0	.	13.535	0.61643	0.0:0.9231:0.0:0.0769	.	208;2067;2075;2075	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	T	2067;2067;2075;208;2035;56	ENSP00000353467:A2067T;ENSP00000416926:A2067T;ENSP00000358866:A2075T;ENSP00000358872:A208T;ENSP00000358863:A2035T;ENSP00000397824:A56T	ENSP00000358863:A2035T	A	-	1	0	FLNA	153234566	1.000000	0.71417	0.997000	0.53966	0.624000	0.37722	7.745000	0.85046	1.108000	0.41662	0.436000	0.28706	GCA		0.602	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			7	51	0	0	0	1	0	7	51					T	153581372	C	T	153581372	3	4	48	1	0	0	0	0	1	0	0	0	5941	710	25	3	1764	3	FLNA	23	153581372	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	353654	153581372	1689188	4719	9187										
FLNA	2316	broad.mit.edu	37	chrX	153593318	153593318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ctcggtgcccaccttcacttCgaagggactgcaaatgcgag	11	13	1	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153593318C>T	ENST00000369850.3	-	12	1935	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K	FLNA_ENST00000344736.4_Missense_Mutation_p.E567K|FLNA_ENST00000360319.4_Missense_Mutation_p.E567K|FLNA_ENST00000422373.1_Missense_Mutation_p.E567K	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	567					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTTCACTTCGAAGGGACTG	0.632																																						ENST00000422373.1																			0				breast(6)	6						c.(1699-1701)Gaa>Aaa		filamin A, alpha							81	91	88					X																	153593318		2091	4192	6283	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153593318C>T	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.1699G>A	X.37:g.153593318C>T	ENSP00000358866:p.Glu567Lys		Somatic				FLNA_ENST00000360319.4_Missense_Mutation_p.E567K|FLNA_ENST00000369850.3_Missense_Mutation_p.E567K|FLNA_ENST00000344736.4_Missense_Mutation_p.E567K	p.E567K	NM_001456.3	NP_001447.2	WXS	Illumina GAIIx	Phase_I	P21333	FLNA_HUMAN			12	1947	-	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)		567					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.1699G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642260	0.29157	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	4.32	4.32	0.51571	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000003	D	0.86843	0.6030	L	0.45422	1.42	0.80722	D	1	D;B	0.65815	0.995;0.103	P;B	0.62813	0.907;0.086	D	0.88760	0.3256	10	0.87932	D	0	.	16.2408	0.82408	0.0:1.0:0.0:0.0	.	567;567	P21333-2;P21333	.;FLNA_HUMAN	K	567;540;567;567;567	ENSP00000353467:E567K;ENSP00000416926:E567K;ENSP00000358866:E567K;ENSP00000358863:E567K	ENSP00000358863:E567K	E	-	1	0	FLNA	153246512	1.000000	0.71417	0.882000	0.34594	0.150000	0.21749	6.074000	0.71253	1.736000	0.51660	0.458000	0.33432	GAA		0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			9	171	0	0	0	1	0	9	171					T	153593318	C	T	153593318	3	4	48	1	0	0	0	0	1	0	0	0	5941	893	31	1	6392	1	FLNA	23	153593318	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	11946	153593318	1677242	4720	9188										
ATP6AP1	537	broad.mit.edu	37	chrX	153663731	153663731	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tacttcaatgcttcccaggtCacagggcccagcatctactc	7	15	3	0			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153663731C>T	ENST00000369762.2	+	9	1144	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	361					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCCCAGGTCACAGGGCCCA	0.612																																						ENST00000369762.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14						c.(1081-1083)gtC>gtT		ATPase, H+ transporting, lysosomal accessory protein 1							61	50	54					X																	153663731		2203	4300	6503	SO:0001819	synonymous_variant	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153663731C>T	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.1083C>T	X.37:g.153663731C>T			Somatic					p.V361V	NM_001183.4	NP_001174.2	WXS	Illumina GAIIx	Phase_I	Q15904	VAS1_HUMAN			9	1144	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		361					A6ZKI4|Q8NBT4|Q9H0C7	Silent	SNP	ENST00000369762.2	37	c.1083C>T	CCDS35451.1																																																																																				0.612	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		27	58	0	0	0	1	0	27	58					T	153663731	C	T	153663731	2	4	48	1	0	0	0	0	0	0	0	1	1165	813	29	3		3	ATP6AP1	23	153663731	Silent	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	70413	153663731	1606829	4721	9189										
PLXNA3	55558	broad.mit.edu	37	chrX	153692557	153692557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cgggcgtgagctgcgccttcGaggcggcggcggagaacgag	20	11	0	2			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153692557G>A	ENST00000369682.3	+	8	1904	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	577					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.E577K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCGCCTTCGAGGCGGCGGC	0.697																																						ENST00000369682.3																			1	Substitution - Missense(1)	p.E577K(1)	endometrium(1)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(1729-1731)Gag>Aag		plexin A3							28	25	26					X																	153692557		2198	4292	6490	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153692557G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1729G>A	X.37:g.153692557G>A	ENSP00000358696:p.Glu577Lys		Somatic					p.E577K	NM_017514.3	NP_059984.2	WXS	Illumina GAIIx	Phase_I	P51805	PLXA3_HUMAN			8	1904	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		577					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.1729G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590293	0.46214	.	.	ENSG00000130827	ENST00000369682	T	0.00976	5.48	5.37	5.37	0.77165	.	0.148255	0.21946	U	0.066819	T	0.01765	0.0056	M	0.70595	2.14	0.49798	D	0.99982	P	0.36354	0.549	B	0.29440	0.102	T	0.63129	-0.6706	10	0.38643	T	0.18	.	16.8103	0.85717	0.0:0.0:1.0:0.0	.	577	P51805	PLXA3_HUMAN	K	577	ENSP00000358696:E577K	ENSP00000358696:E577K	E	+	1	0	PLXNA3	153345751	1.000000	0.71417	0.412000	0.26496	0.019000	0.09904	6.846000	0.75399	2.230000	0.72887	0.597000	0.82753	GAG		0.697	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		14	22	0	0	0	1	0	14	22					A	153692557	G	A	153692557	3	1	48	1	0	0	0	0	1	0	0	0	12130	1059	37	1	1755	1	PLXNA3	23	153692557	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	28826	153692557	1578003	4722	9190										
PLXNA3	55558	broad.mit.edu	37	chrX	153697246	153697246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	ggccccattgatgccatcacGggcgaggcacgatactccct	11	15	1	1	rs140777906	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153697246G>A	ENST00000369682.3	+	25	4543	c.4368G>A	c.(4366-4368)acG>acA	p.T1456T		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1456					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGCCATCACGGGCGAGGCAC	0.617													G|||	1	0.000264901	0	0	3775	,	,		14424	0		0.001	False		,,,				2504	0					ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(4366-4368)acG>acA		plexin A3		G		1,3834		0,1,0,1631,571	116	87	97		4368	-9.7	0.3	X	dbSNP_134	97	3,6725		0,2,1,2426,1871	no	coding-synonymous	PLXNA3	NM_017514.3		0,3,1,4057,2442	AA,AG,A,GG,G		0.0446,0.0261,0.0379		1456/1872	153697246	4,10559	2203	4300	6503	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153697246G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4368G>A	X.37:g.153697246G>A			Somatic					p.T1456T	NM_017514.3	NP_059984.2	WXS	Illumina GAIIx	Phase_I	P51805	PLXA3_HUMAN			25	4543	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1456					Q5HY36	Silent	SNP	ENST00000369682.3	37	c.4368G>A	CCDS14752.1																																																																																				0.617	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		26	73	0	0	0	1	0	26	73					A	153697246	G	A	153697246	2	1	48	1	0	0	0	0	0	0	0	1	12130	1103	39	1		1	PLXNA3	23	153697246	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	4689	153697246	1573314	4723	9191										
DKC1	1736	broad.mit.edu	37	chrX	154004474	154004474	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	catctcagcggaagcgagagAgtgagagtgaaagtgacgag	16	6	1	4			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154004474A>C	ENST00000369550.5	+	14	1561	c.1351A>C	c.(1351-1353)Agt>Cgt	p.S451R	DKC1_ENST00000475966.1_3'UTR|SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	451	Nuclear and nucleolar localization.				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)			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)					GAAGCGAGAGAGTGAGAGTGA	0.458									Congenital Dyskeratosis																													ENST00000369550.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(1351-1353)Agt>Cgt		dyskeratosis congenita 1, dyskerin							73	67	69					X																	154004474		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:154004474A>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.1351A>C	X.37:g.154004474A>C	ENSP00000358563:p.Ser451Arg		Somatic				DKC1_ENST00000475966.1_3'UTR	p.S451R	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	WXS	Illumina GAIIx	Phase_I	O60832	DKC1_HUMAN			14	1561	+	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)		451			Nuclear and nucleolar localization.		F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.1351A>C	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.014822	0.54468	.	.	ENSG00000130826	ENST00000369550	D	0.97303	-4.33	5.1	3.92	0.45320	.	0.691559	0.15696	N	0.249193	D	0.94758	0.8308	L	0.55481	1.735	0.45791	D	0.99867	P;P	0.48911	0.917;0.917	P;P	0.46049	0.502;0.502	D	0.90743	0.4651	10	0.30078	T	0.28	-17.7934	4.23	0.10599	0.7196:0.0:0.1003:0.1801	.	451;451	A8MUT5;O60832	.;DKC1_HUMAN	R	451	ENSP00000358563:S451R	ENSP00000358563:S451R	S	+	1	0	DKC1	153657668	1.000000	0.71417	0.995000	0.50966	0.914000	0.54420	3.249000	0.51437	0.828000	0.34709	0.486000	0.48141	AGT		0.458	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		22	48	0	0	0	1	0	22	48					C	154004474	A	C	154004474	3	2	48	1	0	0	0	0	1	0	0	0	4544	304	11	4	1405	4	DKC1	23	154004474	Missense_Mutation	SNP	A	TCGA-ND-A4WC-01A-21D-A28R-08	307228	154004474	1266086	4724	9192										
MPP1	4354	broad.mit.edu	37	chrX	154007592	154007592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	agcgtactggctgcggatggCctcagagtccttctgcagct	13	12	2	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154007592C>T	ENST00000369534.3	-	12	1408	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T	MPP1_ENST00000393531.1_Missense_Mutation_p.A401T|MPP1_ENST00000413259.3_Missense_Mutation_p.A391T	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	421	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.|Interaction with MPP5.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGCGGATGGCCTCAGAGTCC	0.527													C|||	1	0.000264901	8e-04	0	3775	,	,		14438	0		0	False		,,,				2504	0					ENST00000413259.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21						c.(1171-1173)Gcc>Acc		membrane protein, palmitoylated 1, 55kDa							77	64	68					X																	154007592		2203	4300	6503	SO:0001583	missense	4354				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	g.chrX:154007592C>T		CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"membrane protein, palmitoylated 1 (55kD)"	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.1261G>A	X.37:g.154007592C>T	ENSP00000358547:p.Ala421Thr		Somatic				MPP1_ENST00000369534.3_Missense_Mutation_p.A421T|MPP1_ENST00000393531.1_Missense_Mutation_p.A401T	p.A391T	NM_001166462.1	NP_001159934.1	WXS	Illumina GAIIx	Phase_I	Q00013	EM55_HUMAN			13	1563	-	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)		421			Guanylate kinase-like.|Interaction with MPP5.		B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	c.1171G>A	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835979	0.32421	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531	T;T;T	0.47177	0.85;0.85;0.85	5.86	1.37	0.22104	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.632272	0.17933	N	0.157114	T	0.29126	0.0724	L	0.38175	1.15	0.33812	D	0.62794	B;B;B;B	0.13594	0.008;0.001;0.005;0.006	B;B;B;B	0.11329	0.005;0.006;0.005;0.006	T	0.17107	-1.0380	10	0.27785	T	0.31	.	1.6295	0.02729	0.1589:0.4421:0.1521:0.2468	.	404;391;401;421	B4E325;B4DZV5;G3XAI1;Q00013	.;.;.;EM55_HUMAN	T	421;391;401	ENSP00000358547:A421T;ENSP00000400155:A391T;ENSP00000377165:A401T	ENSP00000358547:A421T	A	-	1	0	MPP1	153660786	0.991000	0.36638	0.972000	0.41901	0.927000	0.56198	1.103000	0.31062	0.609000	0.30018	0.600000	0.82982	GCC		0.527	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		20	57	0	0	0	1	0	20	57					T	154007592	C	T	154007592	3	4	48	1	0	0	0	0	1	0	0	0	9742	739	26	3	143	3	MPP1	23	154007592	Missense_Mutation	SNP	C	TCGA-ND-A4WC-01A-21D-A28R-08	3118	154007592	1262968	4725	9193										
F8	2157	broad.mit.edu	37	chrX	154157019	154157019	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	actgatatggtatcatcataGtcaatttcctcttgatctga	6	8	5	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154157019G>A	ENST00000360256.4	-	14	5246	c.5046C>T	c.(5044-5046)gaC>gaT	p.D1682D		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1682					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)	TATCATCATAGTCAATTTCCT	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.(5044-5046)gaC>gaT		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						147	123	131					X																	154157019		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:154157019G>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.5046C>T	X.37:g.154157019G>A			Somatic					p.D1682D	NM_000132.3	NP_000123.1	WXS	Illumina GAIIx	Phase_I	P00451	FA8_HUMAN			14	5246	-	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)		1682					Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.5046C>T	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			24	35	0	0	0	1	0	24	35					A	154157019	G	A	154157019	2	1	48	1	0	0	0	0	0	0	0	1	5352	1020	36	3		3	F8	23	154157019	Silent	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	149427	154157019	1113541	4726	9194										
F8	2157	broad.mit.edu	37	chrX	154158062	154158062	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	tagtgggagtctgaattgttTcaaagctctcttactacgtt	9	7	3	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154158062T>C	ENST00000360256.4	-	14	4203	c.4003A>G	c.(4003-4005)Aaa>Gaa	p.K1335E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1335	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)	CTGAATTGTTTCAAAGCTCTC	0.398																																						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.(4003-4005)Aaa>Gaa		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						206	172	184					X																	154158062		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:154158062T>C	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.4003A>G	X.37:g.154158062T>C	ENSP00000353393:p.Lys1335Glu		Somatic					p.K1335E	NM_000132.3	NP_000123.1	WXS	Illumina GAIIx	Phase_I	P00451	FA8_HUMAN			14	4203	-	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)		1335			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.4003A>G	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	t	16.21	3.058930	0.55325	.	.	ENSG00000185010	ENST00000360256	D	0.99270	-5.66	5.26	2.76	0.32466	.	0.838718	0.10499	N	0.667504	D	0.98182	0.9399	M	0.72118	2.19	0.09310	N	1	P	0.50443	0.935	P	0.45753	0.492	D	0.94498	0.7707	10	0.38643	T	0.18	-2.9494	4.5598	0.12154	0.0:0.1041:0.1942:0.7017	.	1335	P00451	FA8_HUMAN	E	1335	ENSP00000353393:K1335E	ENSP00000353393:K1335E	K	-	1	0	F8	153811256	0.012000	0.17670	0.001000	0.08648	0.732000	0.41865	0.795000	0.26972	0.225000	0.20959	0.483000	0.47432	AAA		0.398	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			49	80	0	0	0	1	0	49	80					C	154158062	T	C	154158062	3	2	48	1	0	0	0	0	1	0	0	0	5352	1792	62	4	3132	4	F8	23	154158062	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	1043	154158062	1112498	4727	9195										
BRCC3	79184	broad.mit.edu	37	chrX	154319106	154319106	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	caatccatacaggcccaaaaGagttcagagtaagtatgaga	9	8	1	3			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154319106G>T	ENST00000369462.1	+	7	565	c.540G>T	c.(538-540)aaG>aaT	p.K180N	MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000369459.2_Missense_Mutation_p.K180N|BRCC3_ENST00000340647.4_Missense_Mutation_p.K181N|BRCC3_ENST00000330045.7_Missense_Mutation_p.K180N|BRCC3_ENST00000399042.1_Missense_Mutation_p.K180N	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	180					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)					AGGCCCAAAAGAGTTCAGAGT	0.353																																						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.(538-540)aaG>aaT		BRCA1/BRCA2-containing complex, subunit 3							108	93	98					X																	154319106		1833	4081	5914	SO:0001583	missense	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:154319106G>T	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.540G>T	X.37:g.154319106G>T	ENSP00000358474:p.Lys180Asn		Somatic				BRCC3_ENST00000340647.4_Missense_Mutation_p.K181N|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000399042.1_Missense_Mutation_p.K180N|BRCC3_ENST00000369459.2_Missense_Mutation_p.K180N|BRCC3_ENST00000330045.7_Missense_Mutation_p.K180N	p.K180N	NM_024332.3	NP_077308.1	WXS	Illumina GAIIx	Phase_I	P46736	BRCC3_HUMAN			7	565	+	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)		180					A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	ENST00000369462.1	37	c.540G>T	CCDS56611.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337231	0.60963	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369459;ENST00000369462;ENST00000411985;ENST00000399042;ENST00000457026	T;T;T;T;T;T	0.49720	0.83;0.84;0.77;0.86;0.88;0.86	4.68	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.59321	0.2185	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.929;0.996	T	0.54873	-0.8228	10	0.20046	T	0.44	-22.1552	10.1228	0.42632	0.105:0.0:0.895:0.0	.	180;180	P46736-2;P46736	.;BRCC3_HUMAN	N	181;180;180;180;156;180;180	ENSP00000344103:K181N;ENSP00000328641:K180N;ENSP00000358471:K180N;ENSP00000358474:K180N;ENSP00000413170:K156N;ENSP00000381998:K180N	ENSP00000328641:K180N	K	+	3	2	BRCC3	153972300	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.197000	0.51028	1.051000	0.40369	0.544000	0.68410	AAG		0.353	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		4	13	1	0	3.59834e-05	1	3.93264e-05	4	13					T	154319106	G	T	154319106	3	4	48	1	0	0	0	0	1	0	0	0	1502	933	33	2	566	2	BRCC3	23	154319106	Missense_Mutation	SNP	G	TCGA-ND-A4WC-01A-21D-A28R-08	161044	154319106	951454	4728	9196										
TMLHE	55217	broad.mit.edu	37	chrX	154741450	154741450	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0360398558405766	170	1	0.519000774077488	0	0.522061904648454	4.06346203496945e-54	2.31617335993259e-52	0	cacatcctcccataaatggtTtctctgttagttgaaataaa	5	9	1	1			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154741450T>G	ENST00000334398.3	-	5	787	c.642A>C	c.(640-642)gaA>gaC	p.E214D	TMLHE_ENST00000369439.4_Missense_Mutation_p.E214D|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	214					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	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)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	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)				Succinic acid(DB00139)|Vitamin C(DB00126)	CATAAATGGTTTCTCTGTTAG	0.393																																						ENST00000334398.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(640-642)gaA>gaC		trimethyllysine hydroxylase, epsilon	Succinic acid(DB00139)|Vitamin C(DB00126)						127	108	115					X																	154741450		2203	4300	6503	SO:0001583	missense	55217				carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	g.chrX:154741450T>G	AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.642A>C	X.37:g.154741450T>G	ENSP00000335261:p.Glu214Asp		Somatic				TMLHE_ENST00000369439.4_Missense_Mutation_p.E214D|TMLHE-AS1_ENST00000452506.1_RNA	p.E214D	NM_018196.3	NP_060666.1	WXS	Illumina GAIIx	Phase_I	Q9NVH6	TMLH_HUMAN			5	787	-	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)		214					A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	ENST00000334398.3	37	c.642A>C	CCDS14768.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.657214	0.47467	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;D	0.82526	-1.62;-1.62	3.32	2.13	0.27403	.	0.058431	0.64402	D	0.000003	D	0.83723	0.5316	M	0.63169	1.94	0.50632	D	0.999887	D;P;D	0.56746	0.971;0.951;0.977	P;P;P	0.57283	0.721;0.738;0.817	T	0.80348	-0.1420	10	0.35671	T	0.21	-11.3826	5.6757	0.17747	0.0:0.144:0.0:0.856	.	214;214;214	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	D	214	ENSP00000335261:E214D;ENSP00000358447:E214D	ENSP00000335261:E214D	E	-	3	2	TMLHE	154394644	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	1.543000	0.36147	1.140000	0.42260	0.412000	0.27726	GAA		0.393	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196		35	71	0	0	0	1	0	35	71					G	154741450	T	G	154741450	3	3	48	1	0	0	0	0	1	0	0	0	16247	1838	64	4	779	4	TMLHE	23	154741450	Missense_Mutation	SNP	T	TCGA-ND-A4WC-01A-21D-A28R-08	422344	154741450	529110	4729	9197										
HMGN2	3151	broad.mit.edu	37	chr1	26799107	26799107	+	Frame_Shift_Del	DEL	C	C	-													0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	ccgtcgccgccgccaccatgCccaagagaaaggtacgtggc							TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:26799107delC	ENST00000361427.5	+	1	98	c.4delC	c.(4-6)cccfs	p.P2fs		NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	2						chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|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)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|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;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		CGCCACCATGCCCAAGAGAAA	0.741																																						ENST00000361427.5																			0				breast(1)|lung(2)	3						c.(4-6)ccfs		high mobility group nucleosomal binding domain 2							2	2	2					1																	26799107		1333	2989	4322	SO:0001589	frameshift_variant	3151				chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding	g.chr1:26799107delC	BC081567	CCDS283.1	1p36.1	2011-07-01	2011-04-05	2002-08-16	ENSG00000198830	ENSG00000198830		"High-mobility group / Canonical"	4986	protein-coding gene	gene with protein product		163910	"high-mobility group (nonhistone chromosomal) protein 17", "high-mobility group nucleosomal binding domain 2"	HMG17		2037294	Standard	NM_005517		Approved		uc001bmp.4	P05204	OTTHUMG00000003555	ENST00000361427.5:c.4delC	1.37:g.26799107delC	ENSP00000355228:p.Pro2fs		Somatic					p.P2fs	NM_005517.3	NP_005508.1	WXS	Illumina GAIIx	Phase_I	P05204	HMGN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|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;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)	1	98	+		all_cancers(24;1.9e-24)|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)	2					Q0VGD5|Q6FGI5|Q96C64	Frame_Shift_Del	DEL	ENST00000361427.5	37	c.4delC	CCDS283.1																																																																																				0.741	HMGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009901.1	NM_005517		2	4						2	4	---	---	---	---	-	26799107	C	-	26799107	7	5	49	1	0	1	0	1	0	0	0	0	7244	739	26	0	6	0	HMGN2	1	26799107	Frame_Shift_Del	DEL	C	TCGA-ND-A4WF-01A-11D-A28R-08		26799107	222451514	1	9198										
FLG	2312	broad.mit.edu	37	chr1	152287054	152287054	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	gtttatcatgatgactgtgcTttctgtgcttgtgtcctgat	10	7	2	3			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:152287054T>C	ENST00000368799.1	-	3	343	c.308A>G	c.(307-309)aAg>aGg	p.K103R	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	103					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)			ATGACTGTGCTTTCTGTGCTT	0.363									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.(307-309)aAg>aGg		filaggrin							162	158	159					1																	152287054		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.chr1:152287054T>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.308A>G	1.37:g.152287054T>C	ENSP00000357789:p.Lys103Arg		Somatic				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.K103R	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	343	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		103					Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.308A>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.732333	0.30684	.	.	ENSG00000143631	ENST00000368799	T	0.00648	5.99	4.68	-7.11	0.01542	.	.	.	.	.	T	0.00109	0.0003	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31052	-0.9957	9	0.15066	T	0.55	-6.9931	10.081	0.42391	0.0:0.5567:0.1253:0.318	.	103	P20930	FILA_HUMAN	R	103	ENSP00000357789:K103R	ENSP00000357789:K103R	K	-	2	0	FLG	150553678	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.173000	0.01265	-1.430000	0.01985	-1.945000	0.00491	AAG		0.363	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		11	87	0	0	0	1	0	11	87					C	152287054	T	C	152287054	3	2	49	1	0	0	0	0	1	0	0	0	5930	1609	56	4	11881	4	FLG	1	152287054	Missense_Mutation	SNP	T	TCGA-ND-A4WF-01A-11D-A28R-08	125487947	152287054	96963567	2	9199										
ARHGEF11	9826	broad.mit.edu	37	chr1	157014118	157014118	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	tactctggggtaaccttacaCtcatggtttctcggtgtctc	9	11	4	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:157014118C>G	ENST00000361409.2	-	1	747	c.5G>C	c.(4-6)aGt>aCt	p.S2T	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.S2T	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	2					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)					TAACCTTACACTCATGGTTTC	0.433																																						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.(4-6)aGt>aCt		Rho guanine nucleotide exchange factor (GEF) 11							227	219	222					1																	157014118		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.chr1:157014118C>G	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.5G>C	1.37:g.157014118C>G	ENSP00000354644:p.Ser2Thr		Somatic				ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S2T	p.S2T	NM_198236.2	NP_937879.1	WXS	Illumina GAIIx	Phase_I	O15085	ARHGB_HUMAN			1	1044	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		2					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.5G>C	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508911	0.44660	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.68765	-0.34;-0.35	4.58	4.58	0.56647	.	1.771960	0.02995	N	0.147344	T	0.55529	0.1926	N	0.19112	0.55	0.80722	D	1	P;D	0.56035	0.956;0.974	P;D	0.67725	0.899;0.953	T	0.62196	-0.6905	10	0.02654	T	1	19.779	13.0572	0.58988	0.0:1.0:0.0:0.0	.	2;2	O15085;O15085-2	ARHGB_HUMAN;.	T	2	ENSP00000357177:S2T;ENSP00000354644:S2T	ENSP00000354644:S2T	S	-	2	0	ARHGEF11	155280742	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.952000	0.40343	2.519000	0.84933	0.655000	0.94253	AGT		0.433	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		60	49	0	0	0	1	0	60	49					G	157014118	C	G	157014118	3	3	49	1	0	0	0	0	1	0	0	0	896	565	20	5	4847	5	ARHGEF11	1	157014118	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	4727064	157014118	92236503	3	9200										
USF1	7391	broad.mit.edu	37	chr1	161010072	161010072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	caagcggtggttactctgccGaagctcctggatataatcac	10	11	2	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:161010072G>A	ENST00000368021.3	-	10	967	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	TSTD1_ENST00000318289.10_5'Flank|F11R_ENST00000289779.3_5'Flank|USF1_ENST00000368019.1_Missense_Mutation_p.R227W|TSTD1_ENST00000368024.1_5'Flank|TSTD1_ENST00000423014.2_5'Flank|TSTD1_ENST00000368023.3_5'Flank|USF1_ENST00000368020.1_Missense_Mutation_p.R255W|TSTD1_ENST00000466967.1_5'Flank|USF1_ENST00000435396.1_Missense_Mutation_p.R196W	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	255					carbon catabolite regulation of transcription (GO:0045990)|cellular response to insulin stimulus (GO:0032869)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|negative regulation of fibrinolysis (GO:0051918)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TTACTCTGCCGAAGCTCCTGG	0.478																																						ENST00000368021.3																			0				central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(763-765)Cgg>Tgg		upstream transcription factor 1							94	93	93					1																	161010072		2203	4300	6503	SO:0001583	missense	7391				cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr1:161010072G>A	BC035505	CCDS1214.1	1q22-q23	2013-05-21			ENSG00000158773	ENSG00000158773		"Basic helix-loop-helix proteins"	12593	protein-coding gene	gene with protein product		191523				8486371	Standard	NM_007122		Approved	UEF, MLTFI, bHLHb11	uc031pqv.1	P22415	OTTHUMG00000031472	ENST00000368021.3:c.763C>T	1.37:g.161010072G>A	ENSP00000357000:p.Arg255Trp		Somatic				USF1_ENST00000368019.1_Missense_Mutation_p.R227W|USF1_ENST00000368020.1_Missense_Mutation_p.R255W|USF1_ENST00000435396.1_Missense_Mutation_p.R196W	p.R255W	NM_007122.3	NP_009053.1	WXS	Illumina GAIIx	Phase_I	P22415	USF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		10	967	-	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		255			Helix-loop-helix motif.		B2RBZ4|Q5SY46|Q7Z5Y1	Missense_Mutation	SNP	ENST00000368021.3	37	c.763C>T	CCDS1214.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079884	0.76528	.	.	ENSG00000158773	ENST00000368020;ENST00000368021;ENST00000435396;ENST00000368019;ENST00000528768;ENST00000531842	D;D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5;-4.5	5.24	4.31	0.51392	Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	D	0.98667	0.9553	M	0.90198	3.095	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	D	0.99785	1.1029	10	0.87932	D	0	-28.7168	13.4238	0.61013	0.0:0.1586:0.8414:0.0	.	255	P22415	USF1_HUMAN	W	255;255;196;227;119;194	ENSP00000356999:R255W;ENSP00000357000:R255W;ENSP00000390109:R196W;ENSP00000356998:R227W;ENSP00000435005:R194W	ENSP00000356998:R227W	R	-	1	2	USF1	159276696	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	3.804000	0.55568	1.400000	0.46741	0.561000	0.74099	CGG		0.478	USF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077050.1	NM_007122		4	152	0	0	0	1	0	4	152					A	161010072	G	A	161010072	3	1	49	1	0	0	0	0	1	0	0	0	17047	1057	37	1	177	1	USF1	1	161010072	Missense_Mutation	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08	3995954	161010072	88240549	4	9201										
DUSP27	92235	broad.mit.edu	37	chr1	167096275	167096275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	gctggagagaagccggcagaCgctggaggagagccagtcta	17	9	1	3	rs202017285	byFrequency	TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:167096275C>T	ENST00000361200.2	+	6	2073	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.T636M|DUSP27_ENST00000443333.1_Missense_Mutation_p.T636M			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	636					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCCGGCAGACGCTGGAGGAG	0.632													C|||	5	0.000998403	0	0	5008	,	,		14183	0.005		0	False		,,,				2504	0					ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(1906-1908)aCg>aTg		dual specificity phosphatase 27 (putative)							37	34	35					1																	167096275		2202	4299	6501	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096275C>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.1907C>T	1.37:g.167096275C>T	ENSP00000354483:p.Thr636Met		Somatic				DUSP27_ENST00000271385.5_Missense_Mutation_p.T636M|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.T636M	p.T636M			WXS	Illumina GAIIx	Phase_I	Q5VZP5	DUS27_HUMAN			6	2073	+			636					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.1907C>T	CCDS30932.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	16.28	3.078802	0.55753	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03689	3.84;3.84;3.84	5.1	5.1	0.69264	.	0.087500	0.43579	D	0.000551	T	0.03520	0.0101	M	0.65975	2.015	0.33061	D	0.534058	D	0.65815	0.995	P	0.49502	0.613	T	0.16719	-1.0393	10	0.87932	D	0	-13.8238	5.1441	0.14975	0.2009:0.6729:0.0:0.1261	.	636	Q5VZP5	DUS27_HUMAN	M	636	ENSP00000354483:T636M;ENSP00000271385:T636M;ENSP00000404874:T636M	ENSP00000271385:T636M	T	+	2	0	DUSP27	165362899	0.959000	0.32827	0.990000	0.47175	0.987000	0.75469	2.092000	0.41700	2.360000	0.80028	0.643000	0.83706	ACG		0.632	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		27	28	0	0	0	1	0	27	28					T	167096275	C	T	167096275	3	4	49	1	0	0	0	0	1	0	0	0	4826	536	19	1	1925	1	DUSP27	1	167096275	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	6086203	167096275	82154346	5	9202										
HEATR1	55127	broad.mit.edu	37	chr1	236746150	236746150	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	ctgctgtcttctttcagttgTtcaggattccaccatatatc	6	11	4	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:236746150T>C	ENST00000366582.3	-	19	2562	c.2448A>G	c.(2446-2448)gaA>gaG	p.E816E	HEATR1_ENST00000366581.2_Silent_p.E816E	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	816					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)			CTTTCAGTTGTTCAGGATTCC	0.428																																						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.(2446-2448)gaA>gaG		HEAT repeat containing 1							145	115	125					1																	236746150		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236746150T>C	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.2448A>G	1.37:g.236746150T>C			Somatic				HEATR1_ENST00000366581.2_Silent_p.E816E	p.E816E	NM_018072.5	NP_060542.4	WXS	Illumina GAIIx	Phase_I	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		19	2562	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	816					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.2448A>G	CCDS31066.1																																																																																				0.428	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		21	66	0	0	0	1	0	21	66					C	236746150	T	C	236746150	2	2	49	1	0	0	0	0	0	0	0	1	7036	1722	60	4		4	HEATR1	1	236746150	Silent	SNP	T	TCGA-ND-A4WF-01A-11D-A28R-08	69649875	236746150	12504471	6	9203										
C1orf150	148823	broad.mit.edu	37	chr1	247737614	247737614	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	agagacagaatatgcccttcTtaggacttctgttagtaggc	10	8	2	2			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:247737614T>G	ENST00000366488.4	+	5	442	c.338T>G	c.(337-339)cTt>cGt	p.L113R	GCSAML_ENST00000536561.1_Missense_Mutation_p.L93R|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000366491.2_Missense_Mutation_p.L93R|GCSAML_ENST00000366489.1_Missense_Mutation_p.L93R|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000527084.1_Missense_Mutation_p.L81R|GCSAML_ENST00000463359.1_Missense_Mutation_p.L81R|GCSAML_ENST00000527541.1_Missense_Mutation_p.L81R	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	113																	TATGCCCTTCTTAGGACTTCT	0.448																																						ENST00000366491.2																			0											c.(277-279)cTt>cGt		germinal center-associated, signaling and motility-like							153	128	137					1																	247737614		2203	4300	6503	SO:0001583	missense	148823							g.chr1:247737614T>G	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 150"	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.338T>G	1.37:g.247737614T>G	ENSP00000355444:p.Leu113Arg		Somatic				GCSAML_ENST00000366489.1_Missense_Mutation_p.L93R|GCSAML_ENST00000463359.1_Missense_Mutation_p.L81R|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000366488.4_Missense_Mutation_p.L113R|GCSAML_ENST00000527084.1_Missense_Mutation_p.L81R|GCSAML_ENST00000536561.1_Missense_Mutation_p.L93R|GCSAML_ENST00000527541.1_Missense_Mutation_p.L81R|RP11-978I15.10_ENST00000435333.1_RNA	p.L93R			WXS	Illumina GAIIx	Phase_I					7	775	+								B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.278T>G	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784142	0.49997	.	.	ENSG00000169224	ENST00000527084;ENST00000527541;ENST00000366491;ENST00000366489;ENST00000463359;ENST00000366488;ENST00000536561	.	.	.	3.91	3.91	0.45181	.	0.770342	0.10638	N	0.651313	T	0.57431	0.2053	L	0.58101	1.795	0.09310	N	1	D	0.76494	0.999	D	0.65773	0.938	T	0.43294	-0.9400	9	0.87932	D	0	-0.4299	9.3232	0.37977	0.0:0.0:0.0:1.0	.	113	Q5JQS6	CA150_HUMAN	R	81;81;93;93;81;113;93	.	ENSP00000355444:L113R	L	+	2	0	C1orf150	245804237	0.045000	0.20229	0.092000	0.20876	0.699000	0.40488	1.973000	0.40550	1.775000	0.52247	0.482000	0.46254	CTT		0.448	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		18	61	0	0	0	1	0	18	61					G	247737614	T	G	247737614	3	3	49	1	0	0	0	0	1	0	0	0	2006	1609	56	4	356	4	C1orf150	1	247737614	Missense_Mutation	SNP	T	TCGA-ND-A4WF-01A-11D-A28R-08	10991464	247737614	1513007	7	9204										
MEMO1	51072	broad.mit.edu	37	chr2	32108519	32108519	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	attcatcatagtaactgtaaCggaacctttgaccttgaaac	6	9	2	2			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr2:32108519C>G	ENST00000295065.5	-	7	902	c.593G>C	c.(592-594)cGt>cCt	p.R198P	MEMO1_ENST00000490459.1_Intron|MEMO1_ENST00000426310.2_Missense_Mutation_p.R175P|MEMO1_ENST00000379383.3_Missense_Mutation_p.R201P|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000404530.1_Missense_Mutation_p.R198P	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	198					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)					GTAACTGTAACGGAACCTTTG	0.338																																						ENST00000295065.4																			0				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17						c.(592-594)cGt>cCt		mediator of cell motility 1							152	174	167					2																	32108519		2203	4298	6501	SO:0001583	missense	51072				regulation of microtubule-based process	cytosol|nucleus		g.chr2:32108519C>G	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.593G>C	2.37:g.32108519C>G	ENSP00000295065:p.Arg198Pro		Somatic				MEMO1_ENST00000404530.1_Missense_Mutation_p.R198P|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_Intron|MEMO1_ENST00000379383.3_Missense_Mutation_p.R201P|MEMO1_ENST00000426310.2_Missense_Mutation_p.R175P	p.R198P	NM_015955.2	NP_057039.1	WXS	Illumina GAIIx	Phase_I	Q9Y316	MEMO1_HUMAN			7	902	-	Acute lymphoblastic leukemia(172;0.155)		198					B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	c.593G>C	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564485	0.65651	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.31	5.31	0.75309	.	0.144534	0.64402	D	0.000005	T	0.73690	0.3619	M	0.79926	2.475	0.80722	D	1	P;B	0.40083	0.702;0.391	P;P	0.46758	0.526;0.508	T	0.75795	-0.3192	9	0.51188	T	0.08	-1.4316	18.9345	0.92580	0.0:1.0:0.0:0.0	.	175;198	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	P	198;201;198;175	.	ENSP00000295065:R198P	R	-	2	0	MEMO1	31962023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.942000	0.70203	2.657000	0.90304	0.585000	0.79938	CGT		0.338	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955		61	126	0	0	0	1	0	61	126					G	32108519	C	G	32108519	3	3	49	1	0	0	0	0	1	0	0	0	9480	536	19	5	312	5	MEMO1	2	32108519	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08		32108519	211090854	8	9205										
PPIG	9360	broad.mit.edu	37	chr2	170494027	170494027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	ggaacagatgaagacaaaagCggatgagtgagttatataaa	12	3	0	5			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr2:170494027C>T	ENST00000260970.3	+	14	2479	c.2259C>T	c.(2257-2259)agC>agT	p.S753S	PPIG_ENST00000409714.3_Silent_p.S738S|PPIG_ENST00000448752.2_Silent_p.S753S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	753					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)	AAGACAAAAGCGGATGAGTGA	0.313																																						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.(2257-2259)agC>agT		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						31	34	33					2																	170494027		2028	3823	5851	SO:0001819	synonymous_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170494027C>T	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.2259C>T	2.37:g.170494027C>T			Somatic				PPIG_ENST00000448752.2_Silent_p.S753S|PPIG_ENST00000409714.3_Silent_p.S738S	p.S753S	NM_004792.2	NP_004783.2	WXS	Illumina GAIIx	Phase_I	Q13427	PPIG_HUMAN			14	2479	+			753					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Silent	SNP	ENST00000260970.3	37	c.2259C>T	CCDS2235.1																																																																																				0.313	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			14	11	0	0	0	1	0	14	11					T	170494027	C	T	170494027	2	4	49	1	0	0	0	0	0	0	0	1	12336	767	27	1		1	PPIG	2	170494027	Silent	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	138385508	170494027	72705346	9	9206										
FARSB	10056	broad.mit.edu	37	chr2	223499175	223499175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	atttagaggcttgaatttgaTatctgaaggacgctttgcag	11	5	1	4			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr2:223499175T>C	ENST00000281828.6	-	6	804	c.541A>G	c.(541-543)Atc>Gtc	p.I181V	FARSB_ENST00000536361.1_Missense_Mutation_p.I82V	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	181					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TTGAATTTGATATCTGAAGGA	0.398																																						ENST00000281828.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(541-543)Atc>Gtc		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						96	95	95					2																	223499175		2203	4300	6503	SO:0001583	missense	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223499175T>C	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	17800	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, beta, cytoplasmic"	609690	"phenylalanyl-tRNA synthetase-like, beta subunit"	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.541A>G	2.37:g.223499175T>C	ENSP00000281828:p.Ile181Val		Somatic				FARSB_ENST00000536361.1_Missense_Mutation_p.I82V	p.I181V	NM_005687.3	NP_005678.3	WXS	Illumina GAIIx	Phase_I	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	6	804	-		Renal(207;0.0183)	181					B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	c.541A>G	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.256752	0.80246	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.29655	1.56;1.56	5.24	5.24	0.73138	B3/B4 tRNA-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.53802	0.1819	M	0.71920	2.185	0.80722	D	1	P;B	0.41524	0.753;0.415	P;P	0.60541	0.876;0.648	T	0.52041	-0.8628	10	0.44086	T	0.13	-17.7791	15.1208	0.72441	0.0:0.0:0.0:1.0	.	181;181	A8K666;Q9NSD9	.;SYFB_HUMAN	V	181;82	ENSP00000281828:I181V;ENSP00000442950:I82V	ENSP00000281828:I181V	I	-	1	0	FARSB	223207419	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.647000	0.83462	1.976000	0.57569	0.482000	0.46254	ATC		0.398	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		11	21	0	0	0	1	0	11	21					C	223499175	T	C	223499175	3	2	49	1	0	0	0	0	1	0	0	0	5688	1406	49	4	1276	4	FARSB	2	223499175	Missense_Mutation	SNP	T	TCGA-ND-A4WF-01A-11D-A28R-08	53005148	223499175	19700198	10	9207										
UBA7	7318	broad.mit.edu	37	chr3	49847420	49847420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	gtgcttcctacctgcagggtGtgctcggctgtgctagggaa	15	10	0	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:49847420G>A	ENST00000333486.3	-	14	1988	c.1830C>T	c.(1828-1830)caC>caT	p.H610H	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	610					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)		CCTGCAGGGTGTGCTCGGCTG	0.612																																						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.(1828-1830)caC>caT		ubiquitin-like modifier activating enzyme 7							83	86	85					3																	49847420		2203	4300	6503	SO:0001819	synonymous_variant	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49847420G>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	ENST00000333486.3:c.1830C>T	3.37:g.49847420G>A			Somatic					p.H610H	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)	14	1988	-			610					Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.1830C>T	CCDS2805.1																																																																																				0.612	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		8	137	0	0	0	1	0	8	137					A	49847420	G	A	49847420	2	1	49	1	0	0	0	0	0	0	0	1	16848	1368	48	3		3	UBA7	3	49847420	Silent	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08		49847420	148175010	11	9208										
PTPRG	5793	broad.mit.edu	37	chr3	62188855	62188855	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	gaccctttccagcccacagcGtctcctgcctcttcagccga	7	19	3	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:62188855G>A	ENST00000474889.1	+	12	1763	c.1386G>A	c.(1384-1386)gcG>gcA	p.A462A	PTPRG_ENST00000295874.10_Silent_p.A462A	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	462					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)		AGCCCACAGCGTCTCCTGCCT	0.547																																						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.(1384-1386)gcG>gcA		protein tyrosine phosphatase, receptor type, G							69	77	74					3																	62188855		2203	4300	6503	SO:0001819	synonymous_variant	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62188855G>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.1386G>A	3.37:g.62188855G>A			Somatic				PTPRG_ENST00000295874.10_Silent_p.A462A	p.A462A	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)	12	1763	+			462					B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	ENST00000474889.1	37	c.1386G>A	CCDS2895.1																																																																																				0.547	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		33	62	0	0	0	1	0	33	62					A	62188855	G	A	62188855	2	1	49	1	0	0	0	0	0	0	0	1	12817	1132	40	1		1	PTPRG	3	62188855	Silent	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08	12341435	62188855	135833575	12	9209										
NSUN3	63899	broad.mit.edu	37	chr3	93813928	93813928	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	gaagctggttgttttcttctGactctcagaaggcatcctgt	10	9	3	2			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:93813928G>A	ENST00000314622.4	+	5	884	c.673G>A	c.(673-675)Gac>Aac	p.D225N		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	225							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						GTTTTCTTCTGACTCTCAGAA	0.383																																						ENST00000314622.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						c.(673-675)Gac>Aac		NOP2/Sun domain family, member 3							177	162	167					3																	93813928		2203	4300	6503	SO:0001583	missense	63899						methyltransferase activity	g.chr3:93813928G>A	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.673G>A	3.37:g.93813928G>A	ENSP00000318986:p.Asp225Asn		Somatic					p.D225N	NM_022072.3	NP_071355.1	WXS	Illumina GAIIx	Phase_I	Q9H649	NSUN3_HUMAN			5	884	+			225					Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	ENST00000314622.4	37	c.673G>A	CCDS2927.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478203	0.63849	.	.	ENSG00000178694	ENST00000314622	T	0.13657	2.57	5.93	5.93	0.95920	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.193864	0.56097	D	0.000040	T	0.16342	0.0393	L	0.41632	1.29	0.45161	D	0.998174	B	0.21606	0.058	B	0.23574	0.047	T	0.03514	-1.1029	10	0.34782	T	0.22	-14.7808	20.3465	0.98790	0.0:0.0:1.0:0.0	.	225	Q9H649	NSUN3_HUMAN	N	225	ENSP00000318986:D225N	ENSP00000318986:D225N	D	+	1	0	NSUN3	95296618	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	5.467000	0.66737	2.798000	0.96311	0.655000	0.94253	GAC		0.383	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		18	30	0	0	0	1	0	18	30					A	93813928	G	A	93813928	3	1	49	1	0	0	0	0	1	0	0	0	10688	1290	45	3	691	3	NSUN3	3	93813928	Missense_Mutation	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08	31625073	93813928	104208502	13	9210										
GOLGB1	2804	broad.mit.edu	37	chr3	121435639	121435639	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	gcttgctcattcttatcttgGagaagctttgaattttgatc	8	7	3	3			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:121435639G>A	ENST00000340645.5	-	9	1343	c.1218C>T	c.(1216-1218)ctC>ctT	p.L406L	GOLGB1_ENST00000393667.3_Silent_p.L411L	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	406					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)		TCTTATCTTGGAGAAGCTTTG	0.433																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(1231-1233)ctC>ctT		golgin B1							108	98	101					3																	121435639		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121435639G>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1218C>T	3.37:g.121435639G>A			Somatic				GOLGB1_ENST00000340645.5_Silent_p.L406L	p.L411L	NM_001256486.1	NP_001243415.1	WXS	Illumina GAIIx	Phase_I	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	9	1343	-			406					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.1233C>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	G	0.091	-1.166764	0.01660	.	.	ENSG00000173230	ENST00000489400	.	.	.	5.8	-4.43	0.03568	.	.	.	.	.	T	0.38081	0.1027	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.36480	-0.9746	4	.	.	.	.	1.8898	0.03246	0.45:0.2492:0.1749:0.1259	.	.	.	.	F	277	.	.	S	-	2	0	GOLGB1	122918329	0.137000	0.22531	0.670000	0.29842	0.011000	0.07611	-0.749000	0.04813	-0.727000	0.04888	-0.911000	0.02809	TCC		0.433	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		18	28	0	0	0	1	0	18	28					A	121435639	G	A	121435639	2	1	49	1	0	0	0	0	0	0	0	1	6573	1161	41	3		3	GOLGB1	3	121435639	Silent	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08	27621711	121435639	76586791	14	9211										
TMEM108	66000	broad.mit.edu	37	chr3	133099186	133099186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	ccacacctctggggcagaagCggcccctggggaaaatcttt	12	13	2	1	rs145373217	byFrequency	TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:133099186C>T	ENST00000321871.6	+	4	841	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	TMEM108_ENST00000515826.1_Missense_Mutation_p.R211W|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.R211W	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	211						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGGGCAGAAGCGGCCCCTGGG	0.592																																						ENST00000515826.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(631-633)Cgg>Tgg		transmembrane protein 108		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	44	46	45		631,631	3.3	1	3	dbSNP_134	45	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	TMEM108	NM_001136469.1,NM_023943.2	101,101	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	211/576,211/576	133099186	3,13003	2203	4300	6503	SO:0001583	missense	66000					integral to membrane		g.chr3:133099186C>T	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"cancer/testis antigen 124"					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.631C>T	3.37:g.133099186C>T	ENSP00000324651:p.Arg211Trp		Somatic				TMEM108_ENST00000321871.6_Missense_Mutation_p.R211W|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.R211W	p.R211W			WXS	Illumina GAIIx	Phase_I	Q6UXF1	TM108_HUMAN			3	754	+			211					D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.631C>T	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436598	0.62955	2.27E-4	2.33E-4	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.54479	0.57;0.57;0.57	4.15	3.26	0.37387	.	0.183599	0.33144	N	0.005222	T	0.63058	0.2479	L	0.60455	1.87	0.36413	D	0.863837	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.95	T	0.68416	-0.5414	10	0.72032	D	0.01	-13.1797	6.6235	0.22816	0.1785:0.7287:0.0:0.0928	.	211;211	E9PB58;Q6UXF1	.;TM108_HUMAN	W	211	ENSP00000324651:R211W;ENSP00000376838:R211W;ENSP00000423338:R211W	ENSP00000324651:R211W	R	+	1	2	TMEM108	134581876	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.524000	0.45589	0.838000	0.34948	0.561000	0.74099	CGG		0.592	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		36	32	0	0	0	1	0	36	32					T	133099186	C	T	133099186	3	4	49	1	0	0	0	0	1	0	0	0	16039	759	27	1	637	1	TMEM108	3	133099186	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	11663547	133099186	64923244	15	9212										
COPB2	9276	broad.mit.edu	37	chr3	139078198	139078198	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	attaagagctctaggcaggcAtcaaccctaaacattaaaaa	6	9	2	1			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:139078198A>G	ENST00000333188.5	-	18	2398	c.2217T>C	c.(2215-2217)gaT>gaC	p.D739D	COPB2_ENST00000507777.1_Silent_p.D710D	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	739					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CTAGGCAGGCATCAACCCTAA	0.393																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2215-2217)gaT>gaC		coatomer protein complex, subunit beta 2 (beta prime)							70	74	73					3																	139078198		2203	4300	6503	SO:0001819	synonymous_variant	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139078198A>G	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"WD repeat domain containing"	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2217T>C	3.37:g.139078198A>G			Somatic				COPB2_ENST00000507777.1_Silent_p.D710D	p.D739D	NM_004766.2	NP_004757.1	WXS	Illumina GAIIx	Phase_I	P35606	COPB2_HUMAN			18	2398	-			739					B4DZI8	Silent	SNP	ENST00000333188.5	37	c.2217T>C	CCDS3108.1																																																																																				0.393	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		29	37	0	0	0	1	0	29	37					G	139078198	A	G	139078198	2	3	49	1	0	0	0	0	0	0	0	1	3731	214	8	4		4	COPB2	3	139078198	Silent	SNP	A	TCGA-ND-A4WF-01A-11D-A28R-08	5979012	139078198	58944232	16	9213										
LRRIQ4	344657	broad.mit.edu	37	chr3	169540472	169540472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	ccatcccgaagagcttcgccGagctcaggaagatgacggaa	12	12	1	3			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:169540472G>A	ENST00000340806.6	+	1	763	c.763G>A	c.(763-765)Gag>Aag	p.E255K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	255										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAGCTTCGCCGAGCTCAGGAA	0.607																																						ENST00000340806.6																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(763-765)Gag>Aag		leucine-rich repeats and IQ motif containing 4							33	36	35					3																	169540472		1994	4159	6153	SO:0001583	missense	344657							g.chr3:169540472G>A		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"leucine rich repeat containing 64"						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.763G>A	3.37:g.169540472G>A	ENSP00000342188:p.Glu255Lys		Somatic					p.E255K	NM_001080460.1	NP_001073929.1	WXS	Illumina GAIIx	Phase_I	A6NIV6	LRIQ4_HUMAN			1	763	+			255						Missense_Mutation	SNP	ENST00000340806.6	37	c.763G>A	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	G	8.002	0.755540	0.15846	.	.	ENSG00000188306	ENST00000340806	T	0.56275	0.47	5.56	0.0324	0.14175	.	1.620940	0.03327	N	0.192807	T	0.23688	0.0573	N	0.02854	-0.475	0.09310	N	1	B	0.31655	0.334	B	0.20955	0.032	T	0.19257	-1.0311	10	0.05721	T	0.95	.	9.5188	0.39122	0.1905:0.534:0.2755:0.0	.	255	A6NIV6	LRIQ4_HUMAN	K	255	ENSP00000342188:E255K	ENSP00000342188:E255K	E	+	1	0	LRRIQ4	171023166	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.155000	0.16362	-0.357000	0.08175	0.462000	0.41574	GAG		0.607	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		95	21	0	0	0	1	0	95	21					A	169540472	G	A	169540472	3	1	49	1	0	0	0	0	1	0	0	0	9040	1059	37	1	765	1	LRRIQ4	3	169540472	Missense_Mutation	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08	30462274	169540472	28481958	17	9214										
PIK3CA	5290	broad.mit.edu	37	chr3	178952007	178952007	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	atcttttgatgacattgcatAcattcgaaagaccctagcct	6	10	1	3	rs121913288		TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:178952007A>G	ENST00000263967.3	+	21	3219	c.3062A>G	c.(3061-3063)tAc>tGc	p.Y1021C	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1021	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		Y -> C (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.|Y -> H (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|Y -> N (found in a glioblastoma multiforme sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.		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.Y1021C(23)|p.Y1021F(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)	GACATTGCATACATTCGAAAG	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"		24	Substitution - Missense(24)	p.Y1021C(23)|p.Y1021F(1)	endometrium(12)|large_intestine(6)|stomach(2)|lung(2)|central_nervous_system(1)|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.(3061-3063)tAc>tGc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							104	92	95					3																	178952007		1876	4119	5995	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.chr3:178952007A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3062A>G	3.37:g.178952007A>G	ENSP00000263967:p.Tyr1021Cys	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.Y1021C	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	3219	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1021		Y -> C (in cancer).|Y -> H (in cancer).|Y -> N (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3062A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.317192	0.60524	.	.	ENSG00000121879	ENST00000263967	D	0.81579	-1.51	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.90528	0.7032	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91676	0.5354	10	0.87932	D	0	-13.4912	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1021	P42336	PK3CA_HUMAN	C	1021	ENSP00000263967:Y1021C	ENSP00000263967:Y1021C	Y	+	2	0	PIK3CA	180434701	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	TAC		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			126	25	0	0	0	1	0	126	25					G	178952007	A	G	178952007	3	3	49	1	0	0	0	0	1	0	0	0	11922	391	14	4	3140	4	PIK3CA	3	178952007	Missense_Mutation	SNP	A	TCGA-ND-A4WF-01A-11D-A28R-08	9411535	178952007	19070423	18	9215										
LIPH	200879	broad.mit.edu	37	chr3	185252705	185252705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	caaaccctttactaagtcatCcatccaaacaggaggggagc	8	12	1	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:185252705C>T	ENST00000296252.4	-	2	406	c.265G>A	c.(265-267)Gat>Aat	p.D89N	LIPH_ENST00000424591.2_Missense_Mutation_p.D89N	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	89					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ACTAAGTCATCCATCCAAACA	0.438																																						ENST00000296252.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20						c.(265-267)Gat>Aat		lipase, member H							145	138	140					3																	185252705		2203	4300	6503	SO:0001583	missense	200879				lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	g.chr3:185252705C>T	AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.265G>A	3.37:g.185252705C>T	ENSP00000296252:p.Asp89Asn		Somatic				LIPH_ENST00000424591.2_Missense_Mutation_p.D89N	p.D89N	NM_139248.2	NP_640341.1	WXS	Illumina GAIIx	Phase_I	Q8WWY8	LIPH_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		2	406	-	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		89					A2IBA7|Q8TEC7	Missense_Mutation	SNP	ENST00000296252.4	37	c.265G>A	CCDS3272.1	.	.	.	.	.	.	.	.	.	.	C	8.793	0.930989	0.18131	.	.	ENSG00000163898	ENST00000296252;ENST00000424591	D;D	0.91068	-2.56;-2.78	5.98	3.07	0.35406	Lipase, N-terminal (1);	1.323730	0.04458	N	0.373887	D	0.85287	0.5662	N	0.12853	0.265	0.09310	N	1	P;B	0.37594	0.601;0.007	B;B	0.37833	0.259;0.014	T	0.70655	-0.4812	10	0.18710	T	0.47	-2.6217	17.8819	0.88843	0.0:0.5319:0.4681:0.0	.	89;89	A2IBA6;Q8WWY8	.;LIPH_HUMAN	N	89	ENSP00000296252:D89N;ENSP00000396384:D89N	ENSP00000296252:D89N	D	-	1	0	LIPH	186735399	0.000000	0.05858	0.379000	0.26080	0.738000	0.42128	-0.509000	0.06336	0.820000	0.34516	0.655000	0.94253	GAT		0.438	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1			153	45	0	0	0	1	0	153	45					T	185252705	C	T	185252705	3	4	49	1	0	0	0	0	1	0	0	0	8833	855	30	3	1126	3	LIPH	3	185252705	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	6300698	185252705	12769725	19	9216										
TLR1	7096	broad.mit.edu	37	chr4	38800071	38800071	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	ctctttgcatataggcagggCatcaaatgcattaaatgaca	8	8	2	1			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr4:38800071C>A	ENST00000502213.2	-	3	611	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S	TLR1_ENST00000308979.2_Missense_Mutation_p.A128S			Q15399	TLR1_HUMAN	toll-like receptor 1	128					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						ATAGGCAGGGCATCAAATGCA	0.418																																					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.(382-384)Gcc>Tcc		toll-like receptor 1							143	142	142					4																	38800071		2203	4300	6503	SO:0001583	missense	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38800071C>A	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.382G>T	4.37:g.38800071C>A	ENSP00000421259:p.Ala128Ser		Somatic				TLR1_ENST00000502213.2_Missense_Mutation_p.A128S	p.A128S	NM_003263.3	NP_003254.2	WXS	Illumina GAIIx	Phase_I	Q15399	TLR1_HUMAN			4	655	-			128					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	c.382G>T	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317501	0.23908	.	.	ENSG00000174125	ENST00000308979;ENST00000502213;ENST00000505940	T;T;T	0.16196	2.36;2.36;4.41	4.79	1.83	0.25207	.	1.818630	0.02600	N	0.100916	T	0.16727	0.0402	L	0.43152	1.355	0.09310	N	1	B	0.12013	0.005	B	0.17433	0.018	T	0.24404	-1.0161	10	0.44086	T	0.13	.	4.2721	0.10792	0.2816:0.4938:0.0:0.2245	.	128	Q15399	TLR1_HUMAN	S	128	ENSP00000354932:A128S;ENSP00000421259:A128S;ENSP00000421856:A128S	ENSP00000354932:A128S	A	-	1	0	TLR1	38476466	0.000000	0.05858	0.996000	0.52242	0.554000	0.35429	0.415000	0.21181	0.677000	0.31305	0.655000	0.94253	GCC		0.418	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			46	62	1	0	5.48756e-27	1	6.10351e-27	46	62					A	38800071	C	A	38800071	3	1	49	1	0	0	0	0	1	0	0	0	15964	710	25	5	1982	5	TLR1	4	38800071	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08		38800071	152354205	20	9217										
WDR19	57728	broad.mit.edu	37	chr4	39229838	39229838	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	tttattttgtaggtcaatgaCgctacctatgagattccaga	8	7	1	3			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr4:39229838C>T	ENST00000399820.3	+	16	1792	c.1638C>T	c.(1636-1638)gaC>gaT	p.D546D	WDR19_ENST00000288634.7_Silent_p.D386D	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	546					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						AGGTCAATGACGCTACCTATG	0.383																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(1636-1638)gaC>gaT		WD repeat domain 19							64	61	62					4																	39229838		1839	4082	5921	SO:0001819	synonymous_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39229838C>T	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1638C>T	4.37:g.39229838C>T			Somatic				WDR19_ENST00000288634.7_Silent_p.D386D	p.D546D	NM_025132.3	NP_079408.3	WXS	Illumina GAIIx	Phase_I	Q8NEZ3	WDR19_HUMAN			16	1792	+			546					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	37	c.1638C>T	CCDS47042.1																																																																																				0.383	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			5	11	0	0	0	1	0	5	11					T	39229838	C	T	39229838	2	4	49	1	0	0	0	0	0	0	0	1	17294	535	19	1		1	WDR19	4	39229838	Silent	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	429767	39229838	151924438	21	9218										
GSTCD	79807	broad.mit.edu	37	chr4	106638979	106638979	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	aagagatgacctgatccaggAtgttgaaatacagattattt	9	5	0	5			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr4:106638979A>G	ENST00000515279.1	+	2	429	c.209A>G	c.(208-210)gAt>gGt	p.D70G	GSTCD_ENST00000360505.5_Missense_Mutation_p.D70G|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000507281.1_Intron|GSTCD_ENST00000394730.3_Intron|GSTCD_ENST00000394728.3_Missense_Mutation_p.D70G			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	70						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		CTGATCCAGGATGTTGAAATA	0.383																																						ENST00000515279.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14						c.(208-210)gAt>gGt		glutathione S-transferase, C-terminal domain containing							99	99	99					4																	106638979		2203	4300	6503	SO:0001583	missense	79807					cytoplasm	rRNA methyltransferase activity	g.chr4:106638979A>G	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"Glutathione S-transferase, C-terminal domain containing"			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.209A>G	4.37:g.106638979A>G	ENSP00000422354:p.Asp70Gly		Somatic				GSTCD_ENST00000394728.3_Missense_Mutation_p.D70G|GSTCD_ENST00000394730.3_Intron|GSTCD_ENST00000360505.5_Missense_Mutation_p.D70G|GSTCD_ENST00000507281.1_Intron|GSTCD_ENST00000515255.1_Intron	p.D70G			WXS	Illumina GAIIx	Phase_I	Q8NEC7	GSTCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)	2	429	+		Hepatocellular(203;0.217)	70					A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	37	c.209A>G	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	A	6.293	0.422073	0.11928	.	.	ENSG00000138780	ENST00000515279;ENST00000360505;ENST00000510865;ENST00000509336;ENST00000394728	.	.	.	5.55	3.12	0.35913	.	0.440976	0.25692	N	0.028927	T	0.26085	0.0636	N	0.20401	0.57	0.09310	N	0.999995	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.15150	-1.0447	9	0.34782	T	0.22	-15.2787	9.6228	0.39732	0.8585:0.0:0.1415:0.0	.	70;70	Q8NEC7;D6RCC9	GSTCD_HUMAN;.	G	70	.	ENSP00000353695:D70G	D	+	2	0	GSTCD	106858428	0.263000	0.24083	0.162000	0.22713	0.441000	0.31987	2.393000	0.44442	0.416000	0.25844	0.533000	0.62120	GAT		0.383	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751		27	40	0	0	0	1	0	27	40					G	106638979	A	G	106638979	3	3	49	1	0	0	0	0	1	0	0	0	6844	333	12	4	211	4	GSTCD	4	106638979	Missense_Mutation	SNP	A	TCGA-ND-A4WF-01A-11D-A28R-08	67409141	106638979	84515297	22	9219										
FBXW7	55294	broad.mit.edu	37	chr4	153249384	153249384	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	tttcatgaagatgcatacaaCgcacagtggaagtatgccca	9	9	1	2			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr4:153249384C>G	ENST00000281708.4	-	9	2623	c.1394G>C	c.(1393-1395)cGt>cCt	p.R465P	FBXW7_ENST00000393956.3_Missense_Mutation_p.R289P|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347P|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465P|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385P|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465P	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCATACAACGCACAGTGGA	0.408			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		114	Substitution - Missense(113)|Unknown(1)	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)	haematopoietic_and_lymphoid_tissue(40)|large_intestine(39)|endometrium(24)|lung(5)|ovary(4)|cervix(1)|biliary_tract(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1393-1395)cGt>cCt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							253	218	230					4																	153249384		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249384C>G	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1394G>C	4.37:g.153249384C>G	ENSP00000281708:p.Arg465Pro		Somatic				FBXW7_ENST00000296555.5_Missense_Mutation_p.R347P|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465P|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385P|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465P|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289P	p.R465P	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			9	2623	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	465		R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1394G>C	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788159	0.90367	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.05	6.05	0.98169	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	0.72898	0.3518	M	0.89287	3.02	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	0.76236	-0.3033	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:1.0:0.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	P	465;347;385;289	ENSP00000281708:R465P;ENSP00000296555:R347P;ENSP00000263981:R385P;ENSP00000377528:R289P	ENSP00000263981:R385P	R	-	2	0	FBXW7	153468834	1.000000	0.71417	0.960000	0.40013	0.996000	0.88848	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CGT		0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			42	57	0	0	0	1	0	42	57					G	153249384	C	G	153249384	3	3	49	1	0	0	0	0	1	0	0	0	5777	536	19	5	745	5	FBXW7	4	153249384	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	46610405	153249384	37904892	23	9220										
FER	2241	broad.mit.edu	37	chr5	108203563	108203563	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	tattggcgttgaaaggggcaCagctccatcagaatcagtat	11	8	2	2			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr5:108203563C>T	ENST00000281092.4	+	6	961	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	FER_ENST00000536402.1_Nonsense_Mutation_p.Q193*|FER_ENST00000438717.2_Nonsense_Mutation_p.Q18*	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	193	Important for interaction with membranes containing phosphoinositides.				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)		GAAAGGGGCACAGCTCCATCA	0.403																																					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.(577-579)Cag>Tag		fer (fps/fes related) tyrosine kinase							164	130	141					5																	108203563		2202	4300	6502	SO:0001587	stop_gained	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108203563C>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.577C>T	5.37:g.108203563C>T	ENSP00000281092:p.Gln193*		Somatic				FER_ENST00000438717.2_Nonsense_Mutation_p.Q18*|FER_ENST00000536402.1_Nonsense_Mutation_p.Q193*	p.Q193*	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)	6	961	+		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)	193			Important for interaction with membranes containing phosphoinositides.		B2RCR4|B4DSQ2|H2FLB8	Nonsense_Mutation	SNP	ENST00000281092.4	37	c.577C>T	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	40	7.955750	0.98580	.	.	ENSG00000151422	ENST00000281092;ENST00000536402;ENST00000438717	.	.	.	5.53	5.53	0.82687	.	0.162254	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-12.8252	19.8293	0.96628	0.0:1.0:0.0:0.0	.	.	.	.	X	193;193;18	.	ENSP00000281092:Q193X	Q	+	1	0	FER	108231462	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.561000	0.67339	2.749000	0.94314	0.655000	0.94253	CAG		0.403	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		7	32	0	0	0	1	0	7	32					T	108203563	C	T	108203563	4	4	49	1	0	0	0	0	0	1	0	0	5821	479	17	3	591	3	FER	5	108203563	Nonsense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08		108203563	72711697	24	9221										
WDR36	134430	broad.mit.edu	37	chr5	110438053	110438053	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	tcttcttgtagtaaacttctAtatacatttccaggatggaa	6	7	3	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr5:110438053A>G	ENST00000513710.2	+	6	724	c.720A>G	c.(718-720)ctA>ctG	p.L240L	WDR36_ENST00000506538.2_Silent_p.L240L|WDR36_ENST00000505303.1_Silent_p.L184L			Q8NI36	WDR36_HUMAN	WD repeat domain 36	240					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GTAAACTTCTATATACATTTC	0.303																																						ENST00000506538.2																			0				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(718-720)ctA>ctG		WD repeat domain 36							54	58	57					5																	110438053		2202	4298	6500	SO:0001819	synonymous_variant	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110438053A>G	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.720A>G	5.37:g.110438053A>G			Somatic				WDR36_ENST00000513710.2_Silent_p.L240L|WDR36_ENST00000505303.1_Silent_p.L184L	p.L240L	NM_139281.2	NP_644810.1	WXS	Illumina GAIIx	Phase_I	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	6	1293	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	240					A2RUS4|Q68E02|Q8N1Q2	Silent	SNP	ENST00000513710.2	37	c.720A>G	CCDS4102.1																																																																																				0.303	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		19	9	0	0	0	1	0	19	9					G	110438053	A	G	110438053	2	3	49	1	0	0	0	0	0	0	0	1	17305	436	16	4		4	WDR36	5	110438053	Silent	SNP	A	TCGA-ND-A4WF-01A-11D-A28R-08	2234490	110438053	70477207	25	9222										
B4GALT7	11285	broad.mit.edu	37	chr5	177031297	177031297	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	cagctcagctgctctggggaCgtggcccgggcagtcagggg	18	12	3	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr5:177031297C>T	ENST00000029410.5	+	2	279	c.168C>T	c.(166-168)gaC>gaT	p.D56D		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	56					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	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)			GCTCTGGGGACGTGGCCCGGG	0.682																																						ENST00000029410.5																			0				endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7						c.(166-168)gaC>gaT		xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7							24	17	20					5																	177031297		2202	4298	6500	SO:0001819	synonymous_variant	11285				fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity	g.chr5:177031297C>T	AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"Beta 4-glycosyltransferases"	930	protein-coding gene	gene with protein product	"galactosyltransferase I"	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.168C>T	5.37:g.177031297C>T			Somatic					p.D56D	NM_007255.2	NP_009186.1	WXS	Illumina GAIIx	Phase_I	Q9UBV7	B4GT7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	279	+	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)	56					B3KN39|Q9UHN2	Silent	SNP	ENST00000029410.5	37	c.168C>T	CCDS4429.1																																																																																				0.682	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253421.1	NM_007255		4	26	0	0	0	1	0	4	26					T	177031297	C	T	177031297	2	4	49	1	0	0	0	0	0	0	0	1	1276	535	19	1		1	B4GALT7	5	177031297	Silent	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	66593244	177031297	3883963	26	9223										
JARID2	3720	broad.mit.edu	37	chr6	15497073	15497073	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	gtgcacaagccgcaggactcGggcaaggccgagaagggcgg	18	11	0	1	rs375600114		TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr6:15497073G>T	ENST00000341776.2	+	7	1861	c.1617G>T	c.(1615-1617)tcG>tcT	p.S539S	JARID2_ENST00000397311.3_Silent_p.S367S|JARID2_ENST00000541660.1_Silent_p.S501S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	539					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S539S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CGCAGGACTCGGGCAAGGCCG	0.657																																						ENST00000341776.2																			1	Substitution - coding silent(1)	p.S539S(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(1615-1617)tcG>tcT		jumonji, AT rich interactive domain 2		G		0,4406		0,0,2203	23	26	25		1617	2.4	0.9	6		25	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	JARID2	NM_004973.2		0,1,6500	TT,TG,GG		0.0116,0.0,0.0077		539/1247	15497073	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15497073G>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1617G>T	6.37:g.15497073G>T			Somatic				JARID2_ENST00000397311.3_Silent_p.S367S|JARID2_ENST00000541660.1_Silent_p.S501S	p.S539S	NM_004973.3	NP_004964.2	WXS	Illumina GAIIx	Phase_I	Q92833	JARD2_HUMAN			7	1861	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	539					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.1617G>T	CCDS4533.1																																																																																				0.657	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		21	33	1	0	4.96729e-08	1	5.36074e-08	21	33					T	15497073	G	T	15497073	2	4	49	1	0	0	0	0	0	0	0	1	7954	1103	39	5		5	JARID2	6	15497073	Silent	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08		15497073	155617994	27	9224										
ABCC10	89845	broad.mit.edu	37	chr6	43401078	43401078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	gcaaccaggaaatgctacagCacaaggatgcgcgggttaag	13	9	0	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr6:43401078C>T	ENST00000372530.4	+	3	1575	c.1360C>T	c.(1360-1362)Cac>Tac	p.H454Y	ABCC10_ENST00000443426.2_3'UTR|ABCC10_ENST00000244533.3_Missense_Mutation_p.H411Y	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	454	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	AATGCTACAGCACAAGGATGC	0.597																																						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.(1231-1233)Cac>Tac		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							66	56	60					6																	43401078		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43401078C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1360C>T	6.37:g.43401078C>T	ENSP00000361608:p.His454Tyr		Somatic				ABCC10_ENST00000372530.4_Missense_Mutation_p.H454Y|ABCC10_ENST00000443426.2_3'UTR	p.H411Y	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)		1	1590	+	all_lung(25;0.00536)		454			ABC transmembrane type-1 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.1231C>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.584203	0.28268	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.89485	-2.52;-2.52;-2.52	5.5	3.73	0.42828	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.344574	0.35124	N	0.003433	T	0.75774	0.3895	N	0.16903	0.455	0.40637	D	0.981911	B;D	0.59357	0.34;0.985	B;P	0.57468	0.112;0.821	T	0.76383	-0.2979	10	0.02654	T	1	-54.6166	11.9748	0.53085	0.0:0.8597:0.0:0.1403	.	411;454	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Y	10;454;411	ENSP00000361593:H10Y;ENSP00000361608:H454Y;ENSP00000244533:H411Y	ENSP00000244533:H411Y	H	+	1	0	ABCC10	43509056	0.949000	0.32298	0.772000	0.31596	0.353000	0.29299	2.073000	0.41519	0.703000	0.31848	0.650000	0.86243	CAC		0.597	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		32	23	0	0	0	1	0	32	23					T	43401078	C	T	43401078	3	4	49	1	0	0	0	0	1	0	0	0	50	710	25	3	1233	3	ABCC10	6	43401078	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	27904005	43401078	127713989	28	9225										
UTRN	7402	broad.mit.edu	37	chr6	144780347	144780347	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	tcttggccttcaccccaaaaTtgaaatggctcgtgcaagct	8	12	2	1			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr6:144780347T>C	ENST00000367545.3	+	20	2564	c.2564T>C	c.(2563-2565)aTt>aCt	p.I855T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	855	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)		CACCCCAAAATTGAAATGGCT	0.498																																						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.(2563-2565)aTt>aCt		utrophin							72	67	69					6																	144780347		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.chr6:144780347T>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.2564T>C	6.37:g.144780347T>C	ENSP00000356515:p.Ile855Thr		Somatic					p.I855T	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)	20	2564	+		Ovarian(120;0.218)	855			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.2564T>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.829717	0.32329	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.38560	1.13	5.44	5.44	0.79542	.	0.382900	0.21321	N	0.076476	T	0.21718	0.0523	L	0.29908	0.895	0.80722	D	1	P	0.45348	0.856	B	0.38803	0.282	T	0.10847	-1.0612	10	0.87932	D	0	.	15.8043	0.78481	0.0:0.0:0.0:1.0	.	855	P46939	UTRO_HUMAN	T	855	ENSP00000356515:I855T	ENSP00000356499:I855T	I	+	2	0	UTRN	144822040	0.949000	0.32298	0.470000	0.27216	0.154000	0.21943	3.530000	0.53539	2.197000	0.70478	0.528000	0.53228	ATT		0.498	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			11	56	0	0	0	1	0	11	56					C	144780347	T	C	144780347	3	2	49	1	0	0	0	0	1	0	0	0	17118	1493	52	4	2642	4	UTRN	6	144780347	Missense_Mutation	SNP	T	TCGA-ND-A4WF-01A-11D-A28R-08	101379269	144780347	26334720	29	9226										
GLI3	2737	broad.mit.edu	37	chr7	42004014	42004014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	gatagccatgttggtggtgcTcatggacagcgctgggaatg	16	7	1	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr7:42004014T>C	ENST00000395925.3	-	15	4741	c.4657A>G	c.(4657-4659)Agc>Ggc	p.S1553G	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1553					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						TTGGTGGTGCTCATGGACAGC	0.547									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.(4657-4659)Agc>Ggc		GLI family zinc finger 3							87	86	86					7																	42004014		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.chr7:42004014T>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.4657A>G	7.37:g.42004014T>C	ENSP00000379258:p.Ser1553Gly		Somatic				GLI3_ENST00000479210.1_5'UTR	p.S1553G	NM_000168.5	NP_000159.3	WXS	Illumina GAIIx	Phase_I	P10071	GLI3_HUMAN			15	4741	-			1553					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.4657A>G	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	T	3.821	-0.037775	0.07497	.	.	ENSG00000106571	ENST00000395925	T	0.05855	3.38	6.03	2.29	0.28610	.	0.313869	0.43260	N	0.000583	T	0.02380	0.0073	N	0.04148	-0.265	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43261	-0.9402	10	0.02654	T	1	.	9.3856	0.38340	0.0:0.2116:0.0:0.7884	.	1553	P10071	GLI3_HUMAN	G	1553	ENSP00000379258:S1553G	ENSP00000379258:S1553G	S	-	1	0	GLI3	41970539	0.994000	0.37717	0.984000	0.44739	0.969000	0.65631	2.229000	0.42990	0.471000	0.27319	0.533000	0.62120	AGC		0.547	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		29	33	0	0	0	1	0	29	33					C	42004014	T	C	42004014	3	2	49	1	0	0	0	0	1	0	0	0	6447	1551	54	4	89	4	GLI3	7	42004014	Missense_Mutation	SNP	T	TCGA-ND-A4WF-01A-11D-A28R-08		42004014	117134649	30	9227										
MCM7	4176	broad.mit.edu	37	chr7	99696771	99696771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	cttccccacagagtcagcccGcacttcccggatcacacgag	8	18	2	1	rs150260409	byFrequency	TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr7:99696771G>A	ENST00000303887.5	-	5	1102	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	MCM7_ENST00000354230.3_5'UTR|AP4M1_ENST00000422582.1_5'Flank|AP4M1_ENST00000421755.1_5'Flank|MCM7_ENST00000343023.6_Missense_Mutation_p.R153W|AP4M1_ENST00000429084.1_5'Flank|AP4M1_ENST00000359593.4_5'Flank	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	153					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)					GAGTCAGCCCGCACTTCCCGG	0.512																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(457-459)Cgg>Tgg		minichromosome maintenance complex component 7	Atorvastatin(DB01076)	G	TRP/ARG,	2,4404	6.2+/-15.9	0,2,2201	112	100	104		457,	3.7	1	7	dbSNP_134	104	0,8600		0,0,4300	yes	missense,utr-5	MCM7	NM_005916.3,NM_182776.1	101,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,	153/720,	99696771	2,13004	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.chr7:99696771G>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.457C>T	7.37:g.99696771G>A	ENSP00000307288:p.Arg153Trp		Somatic				MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.R153W	p.R153W	NM_005916.3	NP_005907.3	WXS	Illumina GAIIx	Phase_I	P33993	MCM7_HUMAN			5	1102	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		153					A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.457C>T	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728365	0.69074	4.54E-4	0.0	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483;ENST00000362082;ENST00000425308	T;T;T	0.15139	2.45;2.45;2.45	4.58	3.68	0.42216	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.172999	0.40728	N	0.001024	T	0.30759	0.0775	M	0.78801	2.425	0.80722	D	1	D	0.61697	0.99	P	0.52554	0.702	T	0.10019	-1.0648	10	0.87932	D	0	-5.9434	9.6738	0.40028	0.0:0.0:0.622:0.378	.	153	P33993	MCM7_HUMAN	W	153;153;90;46;46	ENSP00000344006:R153W;ENSP00000307288:R153W;ENSP00000411295:R46W	ENSP00000307288:R153W	R	-	1	2	MCM7	99534707	0.993000	0.37304	0.999000	0.59377	0.799000	0.45148	3.164000	0.50770	1.103000	0.41568	0.462000	0.41574	CGG		0.512	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			8	158	0	0	0	1	0	8	158					A	99696771	G	A	99696771	3	1	49	1	0	0	0	0	1	0	0	0	9401	1086	38	1	1746	1	MCM7	7	99696771	Missense_Mutation	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08	57692757	99696771	59441892	31	9228										
ZFPM2	23414	broad.mit.edu	37	chr8	106814196	106814196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	aacatcttgcatcaattcttCcactgtcttagatttaattg	4	9	4	1			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr8:106814196C>T	ENST00000407775.2	+	8	2136	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	ZFPM2_ENST00000520492.1_Missense_Mutation_p.S497F|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S497F|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S360F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	629					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)			ATCAATTCTTCCACTGTCTTA	0.443																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(1885-1887)tCc>tTc		zinc finger protein, FOG family member 2							81	76	77					8																	106814196		1889	4137	6026	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.chr8:106814196C>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.1886C>T	8.37:g.106814196C>T	ENSP00000384179:p.Ser629Phe		Somatic				RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S497F|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S497F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S360F|ZFPM2_ENST00000522296.1_3'UTR	p.S629F	NM_012082.3	NP_036214.2	WXS	Illumina GAIIx	Phase_I	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2136	+			629					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1886C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496552	0.44352	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.21361	2.01;2.51;2.51;3.66	5.86	5.86	0.93980	.	0.216020	0.50627	D	0.000117	T	0.18593	0.0446	L	0.27053	0.805	0.29779	N	0.834169	P	0.44090	0.826	B	0.41723	0.365	T	0.04307	-1.0961	10	0.48119	T	0.1	.	15.6386	0.76977	0.0:0.8634:0.1366:0.0	.	629	Q8WW38	FOG2_HUMAN	F	629;497;497;360	ENSP00000384179:S629F;ENSP00000430757:S497F;ENSP00000428720:S497F;ENSP00000367733:S360F	ENSP00000367733:S360F	S	+	2	0	ZFPM2	106883372	0.960000	0.32886	0.297000	0.24988	0.970000	0.65996	4.593000	0.61034	2.777000	0.95525	0.655000	0.94253	TCC		0.443	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			24	72	0	0	0	1	0	24	72					T	106814196	C	T	106814196	3	4	49	1	0	0	0	0	1	0	0	0	17673	855	30	3	1916	3	ZFPM2	8	106814196	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08		106814196	39549826	32	9229										
KCNQ3	3786	broad.mit.edu	37	chr8	133141882	133141882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	agtcgagaagagtcaagataGgcaggaccgtgggcctctcc	14	10	2	3			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr8:133141882G>A	ENST00000388996.4	-	15	2666	c.2246C>T	c.(2245-2247)cCt>cTt	p.P749L	KCNQ3_ENST00000521134.1_Missense_Mutation_p.P629L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P737L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	749					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGTCAAGATAGGCAGGACCGT	0.617																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(2245-2247)cCt>cTt		potassium voltage-gated channel, KQT-like subfamily, member 3							35	37	37					8																	133141882		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133141882G>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2246C>T	8.37:g.133141882G>A	ENSP00000373648:p.Pro749Leu		Somatic				KCNQ3_ENST00000521134.1_Missense_Mutation_p.P629L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.P737L	p.P749L	NM_004519.3	NP_004510.1	WXS	Illumina GAIIx	Phase_I	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		15	2666	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		749					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.2246C>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818985	0.50633	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99369	-5.69;-5.61;-5.78	5.39	5.39	0.77823	.	1.264800	0.05711	N	0.595963	D	0.98611	0.9535	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66716	0.946;0.946	D	0.94344	0.7573	10	0.32370	T	0.25	-15.9567	18.2178	0.89892	0.0:0.0:1.0:0.0	.	737;749	E7ET42;O43525	.;KCNQ3_HUMAN	L	749;629;737;726;628	ENSP00000373648:P749L;ENSP00000429799:P629L;ENSP00000428790:P737L	ENSP00000373648:P749L	P	-	2	0	KCNQ3	133211064	1.000000	0.71417	0.997000	0.53966	0.250000	0.25880	5.721000	0.68477	2.559000	0.86315	0.650000	0.86243	CCT		0.617	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		34	44	0	0	0	1	0	34	44					A	133141882	G	A	133141882	3	1	49	1	0	0	0	0	1	0	0	0	8093	1000	35	3	376	3	KCNQ3	8	133141882	Missense_Mutation	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08	26327686	133141882	13222140	33	9230										
ZFAT	57623	broad.mit.edu	37	chr8	135545196	135545196	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	atatgttgcaggagtaatggCaatgggcacagcggaaaggc	15	6	0	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr8:135545196C>T	ENST00000377838.3	-	12	3170	c.2996G>A	c.(2995-2997)tGc>tAc	p.C999Y	ZFAT_ENST00000520356.1_Missense_Mutation_p.C987Y|ZFAT_ENST00000523399.1_Missense_Mutation_p.C937Y|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520727.1_Missense_Mutation_p.C987Y|ZFAT_ENST00000429442.2_Missense_Mutation_p.C987Y|ZFAT_ENST00000520214.1_Missense_Mutation_p.C987Y	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	999					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)			GGAGTAATGGCAATGGGCACA	0.587																																						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.(2959-2961)tGc>tAc		zinc finger and AT hook domain containing							55	57	56					8																	135545196		2067	4190	6257	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135545196C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2996G>A	8.37:g.135545196C>T	ENSP00000367069:p.Cys999Tyr		Somatic				ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000429442.2_Missense_Mutation_p.C987Y|ZFAT_ENST00000520214.1_Missense_Mutation_p.C987Y|ZFAT_ENST00000523399.1_Missense_Mutation_p.C937Y|ZFAT_ENST00000520356.1_Missense_Mutation_p.C987Y|ZFAT_ENST00000377838.3_Missense_Mutation_p.C999Y	p.C987Y	NM_001029939.3	NP_001025110.2	WXS	Illumina GAIIx	Phase_I	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		13	3259	-	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)		999					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.2960G>A	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302267	0.81136	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.82268	0.5000	M	0.92077	3.27	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	D	0.86641	0.1892	10	0.87932	D	0	-19.4018	18.1676	0.89733	0.0:1.0:0.0:0.0	.	118;937;987;999	B7Z741;E9PER3;E9PBN4;Q9P243	.;.;.;ZFAT_HUMAN	Y	987;987;987;999;987;886;937	ENSP00000427879:C987Y;ENSP00000427831:C987Y;ENSP00000394501:C987Y;ENSP00000367069:C999Y;ENSP00000428483:C987Y;ENSP00000429091:C937Y	ENSP00000326997:C886Y	C	-	2	0	ZFAT	135614378	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.223000	0.78033	2.530000	0.85305	0.585000	0.79938	TGC		0.587	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		16	14	0	0	0	1	0	16	14					T	135545196	C	T	135545196	3	4	49	1	0	0	0	0	1	0	0	0	17647	710	25	3	755	3	ZFAT	8	135545196	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	2403314	135545196	10818826	34	9231										
ADAMTSL1	92949	broad.mit.edu	37	chr9	18622331	18622331	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	ggtccacctgccggctggtcCgagggcagtataaatcccag	13	13	0	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr9:18622331C>T	ENST00000380548.4	+	5	904	c.565C>T	c.(565-567)Cga>Tga	p.R189*	ADAMTSL1_ENST00000276935.6_Nonsense_Mutation_p.R189*|ADAMTSL1_ENST00000327883.7_Nonsense_Mutation_p.R189*|ADAMTSL1_ENST00000380566.4_Nonsense_Mutation_p.R189*|ADAMTSL1_ENST00000380570.4_Nonsense_Mutation_p.R189*	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	189						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)		CCGGCTGGTCCGAGGGCAGTA	0.532																																						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.(565-567)Cga>Tga		ADAMTS-like 1							82	79	80					9																	18622331		2203	4300	6503	SO:0001587	stop_gained	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18622331C>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.565C>T	9.37:g.18622331C>T	ENSP00000369921:p.Arg189*		Somatic				ADAMTSL1_ENST00000276935.6_Nonsense_Mutation_p.R189*|ADAMTSL1_ENST00000380570.4_Nonsense_Mutation_p.R189*|ADAMTSL1_ENST00000327883.7_Nonsense_Mutation_p.R189*|ADAMTSL1_ENST00000380566.4_Nonsense_Mutation_p.R189*	p.R189*	NM_001040272.5	NP_001035362.3	WXS	Illumina GAIIx	Phase_I	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	5	904	+			189					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Nonsense_Mutation	SNP	ENST00000380548.4	37	c.565C>T	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055653	0.93793	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380570;ENST00000380566;ENST00000276935	.	.	.	5.46	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9375	0.70967	0.3132:0.6868:0.0:0.0	.	.	.	.	X	189	.	ENSP00000276935:R189X	R	+	1	2	ADAMTSL1	18612331	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.744000	0.38268	1.396000	0.46663	0.655000	0.94253	CGA		0.532	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			29	61	0	0	0	1	0	29	61					T	18622331	C	T	18622331	4	4	49	1	0	0	0	0	0	1	0	0	274	644	23	1	583	1	ADAMTSL1	9	18622331	Nonsense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08		18622331	122591100	35	9232										
IFT74	80173	broad.mit.edu	37	chr9	26961996	26961996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	atcacaaatcttcagcagctCgccctgtttcaagaggtgga	9	11	4	1	rs545013743		TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr9:26961996C>T	ENST00000443698.1	+	2	202	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	IFT74_ENST00000380062.5_Missense_Mutation_p.R11C|IFT74_ENST00000429045.2_Missense_Mutation_p.R11C|IFT74_ENST00000433700.1_Missense_Mutation_p.R11C	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	11	Basic region.				cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TTCAGCAGCTCGCCCTGTTTC	0.433													C|||	1	0.000199681	0	0	5008	,	,		19360	0.001		0	False		,,,				2504	0					ENST00000443698.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(31-33)Cgc>Tgc		intraflagellar transport 74 homolog (Chlamydomonas)							102	96	98					9																	26961996		1881	4114	5995	SO:0001583	missense	80173					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum		g.chr9:26961996C>T	AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"Intraflagellar transport homologs"	21424	protein-coding gene	gene with protein product	"capillary morphogenesis protein 1"	608040	"coiled-coil domain containing 2", "intraflagellar transport 74 homolog (Chlamydomonas)"	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.31C>T	9.37:g.26961996C>T	ENSP00000404122:p.Arg11Cys		Somatic				IFT74_ENST00000429045.2_Missense_Mutation_p.R11C|IFT74_ENST00000433700.1_Missense_Mutation_p.R11C|IFT74_ENST00000380062.5_Missense_Mutation_p.R11C	p.R11C	NM_001099222.1	NP_001092692.1	WXS	Illumina GAIIx	Phase_I	Q96LB3	IFT74_HUMAN		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)	2	202	+		all_neural(11;2.36e-10)	11					Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	ENST00000443698.1	37	c.31C>T	CCDS43793.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416448	0.62511	.	.	ENSG00000096872	ENST00000519968;ENST00000433700;ENST00000517444;ENST00000443698;ENST00000380062;ENST00000544022;ENST00000518614;ENST00000429045	T;T;T;T;T;T;T	0.53423	1.49;2.36;1.35;2.36;2.36;0.62;1.97	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.83275	0.996;0.903	T	0.74203	-0.3741	10	0.87932	D	0	-3.1602	14.7683	0.69657	0.0:1.0:0.0:0.0	.	11;11	Q96LB3;Q96LB3-2	IFT74_HUMAN;.	C	11	ENSP00000430004:R11C;ENSP00000389224:R11C;ENSP00000430096:R11C;ENSP00000404122:R11C;ENSP00000369402:R11C;ENSP00000430526:R11C;ENSP00000393907:R11C	ENSP00000369402:R11C	R	+	1	0	IFT74	26951996	1.000000	0.71417	0.993000	0.49108	0.431000	0.31685	3.688000	0.54699	2.557000	0.86248	0.585000	0.79938	CGC		0.433	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103		45	42	0	0	0	1	0	45	42					T	26961996	C	T	26961996	3	4	49	1	0	0	0	0	1	0	0	0	7572	884	31	1	33	1	IFT74	9	26961996	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	8339665	26961996	114251435	36	9233										
GARNL3	84253	broad.mit.edu	37	chr9	130095380	130095380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	aaagggctggacgggctaccGtggcggtctggataccaaaa	15	9	1	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr9:130095380G>A	ENST00000373387.4	+	9	1101	c.749G>A	c.(748-750)cGt>cAt	p.R250H	GARNL3_ENST00000435213.2_Missense_Mutation_p.R228H|GARNL3_ENST00000314904.5_Missense_Mutation_p.R250H	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	250	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						ACGGGCTACCGTGGCGGTCTG	0.428																																						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.(748-750)cGt>cAt		GTPase activating Rap/RanGAP domain-like 3							82	85	84					9																	130095380		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130095380G>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.749G>A	9.37:g.130095380G>A	ENSP00000362485:p.Arg250His		Somatic				GARNL3_ENST00000314904.5_Missense_Mutation_p.R250H|GARNL3_ENST00000435213.2_Missense_Mutation_p.R228H	p.R250H	NM_032293.4	NP_115669.3	WXS	Illumina GAIIx	Phase_I	Q5VVW2	GARL3_HUMAN			9	1101	+			250			Rap-GAP.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.749G>A	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	35	5.498152	0.96355	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	D;D;D	0.94417	-3.42;-3.42;-3.42	5.21	5.21	0.72293	Rap/ran-GAP (2);	0.052954	0.85682	D	0.000000	D	0.97898	0.9309	M	0.92268	3.29	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.986;0.986;0.964	D	0.98735	1.0714	9	.	.	.	.	17.6863	0.88257	0.0:0.0:1.0:0.0	.	250;228;191	Q5VVW2;B7Z3Q6;Q5VVW4	GARL3_HUMAN;.;.	H	228;250;250	ENSP00000396205:R228H;ENSP00000313970:R250H;ENSP00000362485:R250H	.	R	+	2	0	GARNL3	129135201	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	8.865000	0.92300	2.595000	0.87683	0.557000	0.71058	CGT		0.428	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		49	5	0	0	0	1	0	49	5					A	130095380	G	A	130095380	3	1	49	1	0	0	0	0	1	0	0	0	6249	1145	40	1	783	1	GARNL3	9	130095380	Missense_Mutation	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08	103133384	130095380	11118051	37	9234										
MKX	283078	broad.mit.edu	37	chr10	28023623	28023623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	cgtgactctggcctcactccCgctttgatgaccgaattctc	8	15	3	3			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr10:28023623C>T	ENST00000375790.5	-	5	1032	c.600G>A	c.(598-600)gcG>gcA	p.A200A	MKX_ENST00000419761.1_Silent_p.A200A			Q8IYA7	MKX_HUMAN	mohawk homeobox	200					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCCTCACTCCCGCTTTGATGA	0.488																																						ENST00000375790.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(598-600)gcG>gcA		mohawk homeobox							156	151	153					10																	28023623		2203	4300	6503	SO:0001819	synonymous_variant	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:28023623C>T	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"Homeoboxes / TALE class"	23729	protein-coding gene	gene with protein product		601332	"chromosome 10 open reading frame 48", "iroquois homeobox protein-like 1"	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.600G>A	10.37:g.28023623C>T			Somatic				MKX_ENST00000419761.1_Silent_p.A200A	p.A200A			WXS	Illumina GAIIx	Phase_I	Q8IYA7	MKX_HUMAN			5	1032	-			200					B3KWM5	Silent	SNP	ENST00000375790.5	37	c.600G>A	CCDS7156.1																																																																																				0.488	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576		22	83	0	0	0	1	0	22	83					T	28023623	C	T	28023623	2	4	49	1	0	0	0	0	0	0	0	1	9619	639	23	1		1	MKX	10	28023623	Silent	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08		28023623	107511124	38	9235										
SLC25A28	81894	broad.mit.edu	37	chr10	101379857	101379857	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	ccaggatccctgccacggcgCctgccaccatgtgcgtggtg	13	16	0	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr10:101379857C>G	ENST00000370495.4	-	1	264	c.236G>C	c.(235-237)gGc>gCc	p.G79A	RP11-85A1.3_ENST00000566847.1_RNA|SLC25A28_ENST00000496035.1_Intron	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	79					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)		TGCCACGGCGCCTGCCACCAT	0.692																																						ENST00000370495.4																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11						c.(235-237)gGc>gCc		solute carrier family 25 (mitochondrial iron transporter), member 28							12	15	14					10																	101379857		1972	4120	6092	SO:0001583	missense	81894				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr10:101379857C>G	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.236G>C	10.37:g.101379857C>G	ENSP00000359526:p.Gly79Ala		Somatic				SLC25A28_ENST00000496035.1_Intron	p.G79A	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)	1	264	-		Colorectal(252;0.234)	79					Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Missense_Mutation	SNP	ENST00000370495.4	37	c.236G>C	CCDS41559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	27.6|27.6	4.843395|4.843395	0.91197|0.91197	.|.	.|.	ENSG00000155287|ENSG00000155287	ENST00000370495|ENST00000434701	D|T	0.91237|0.78924	-2.81|-1.22	4.43|4.43	4.43|4.43	0.53597|0.53597	Mitochondrial carrier domain (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|D	0.85902|0.85902	0.5805|0.5805	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.84307|0.84307	0.0508|0.0508	10|7	0.66056|0.20519	D|T	0.02|0.43	-6.7735|-6.7735	15.7826|15.7826	0.78272|0.78272	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	79|.	Q96A46|.	MFRN2_HUMAN|.	A|S	79|16	ENSP00000359526:G79A|ENSP00000399102:R16S	ENSP00000359526:G79A|ENSP00000399102:R16S	G|R	-|-	2|3	0|2	SLC25A28|SLC25A28	101369847|101369847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.083000|7.083000	0.76859|0.76859	2.265000|2.265000	0.75225|0.75225	0.457000|0.457000	0.33378|0.33378	GGC|AGG		0.692	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212		8	17	0	0	0	1	0	8	17					G	101379857	C	G	101379857	3	3	49	1	0	0	0	0	1	0	0	0	14506	739	26	5	874	5	SLC25A28	10	101379857	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	73356234	101379857	34154890	39	9236										
TRIM5	85363	broad.mit.edu	37	chr11	5701143	5701143	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	acaatgatcaactttctgccCctctgggctcaacttgacct	6	14	4	2			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr11:5701143C>T	ENST00000380034.3	-	2	521	c.265G>A	c.(265-267)Ggg>Agg	p.G89R	TRIM5_ENST00000483835.1_5'Flank|TRIM5_ENST00000396847.3_Missense_Mutation_p.G89R|TRIM5_ENST00000305836.5_Missense_Mutation_p.G89R|TRIM5_ENST00000396853.4_Missense_Mutation_p.G89R|TRIM5_ENST00000380027.1_Missense_Mutation_p.G89R|TRIM5_ENST00000396855.3_Missense_Mutation_p.G89R	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	89					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)		ACTTTCTGCCCCTCTGGGCTC	0.532																																						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.(265-267)Ggg>Agg		tripartite motif containing 5							164	147	153					11																	5701143		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.chr11:5701143C>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.265G>A	11.37:g.5701143C>T	ENSP00000369373:p.Gly89Arg		Somatic				TRIM5_ENST00000380034.3_Missense_Mutation_p.G89R|TRIM5_ENST00000380027.1_Missense_Mutation_p.G89R|TRIM5_ENST00000396847.3_Missense_Mutation_p.G89R|TRIM5_ENST00000396853.4_Missense_Mutation_p.G89R|TRIM5_ENST00000396855.3_Missense_Mutation_p.G89R	p.G89R			WXS	Illumina GAIIx	Phase_I	Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	2	567	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	89					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.265G>A	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	C	5.117	0.207146	0.09704	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000396853;ENST00000412903	T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45	4.07	2.17	0.27698	Zinc finger, RING/FYVE/PHD-type (1);	1.254190	0.05630	N	0.581509	T	0.42810	0.1219	N	0.25485	0.75	0.09310	N	1	B;B;B	0.20368	0.044;0.016;0.021	B;B;B	0.26693	0.072;0.042;0.019	T	0.40608	-0.9554	10	0.52906	T	0.07	.	7.8066	0.29206	0.0:0.7407:0.1644:0.0949	.	89;89;89	Q9C035-3;Q9C035-4;Q9C035	.;.;TRIM5_HUMAN	R	89	ENSP00000380064:G89R;ENSP00000307031:G89R;ENSP00000369373:G89R;ENSP00000369366:G89R;ENSP00000380058:G89R;ENSP00000380062:G89R;ENSP00000388031:G89R	ENSP00000307031:G89R	G	-	1	0	TRIM5	5657719	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.016000	0.13377	0.662000	0.31006	-0.157000	0.13467	GGG		0.532	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		5	71	0	0	0	1	0	5	71					T	5701143	C	T	5701143	3	4	49	1	0	0	0	0	1	0	0	0	16540	623	22	3	1483	3	TRIM5	11	5701143	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08		5701143	129305373	40	9237										
OR4X1	390113	broad.mit.edu	37	chr11	48285756	48285756	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	tgaggcctttctcctgatggTgatggcctatgaccgctatg	12	10	1	4			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr11:48285756T>C	ENST00000320048.1	+	1	344	c.344T>C	c.(343-345)gTg>gCg	p.V115A		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	115						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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CTCCTGATGGTGATGGCCTAT	0.517																																						ENST00000320048.1																			0				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.(343-345)gTg>gCg		olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)							78	73	75					11																	48285756		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48285756T>C	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.344T>C	11.37:g.48285756T>C	ENSP00000321506:p.Val115Ala		Somatic					p.V115A	NM_001004726.1	NP_001004726.1	WXS	Illumina GAIIx	Phase_I	Q8NH49	OR4X1_HUMAN			1	344	+			115					Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.344T>C	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.209859	0.39003	.	.	ENSG00000176567	ENST00000320048	T	0.05580	3.42	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.08044	0.0201	L	0.29908	0.895	0.22034	N	0.999409	P	0.45474	0.859	P	0.46685	0.524	T	0.29336	-1.0015	9	0.35671	T	0.21	.	11.6786	0.51444	0.0:0.0:0.0:1.0	.	115	Q8NH49	OR4X1_HUMAN	A	115	ENSP00000321506:V115A	ENSP00000321506:V115A	V	+	2	0	OR4X1	48242332	0.000000	0.05858	0.960000	0.40013	0.369000	0.29798	0.479000	0.22228	1.911000	0.55334	0.456000	0.33151	GTG		0.517	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		23	30	0	0	0	1	0	23	30					C	48285756	T	C	48285756	3	2	49	1	0	0	0	0	1	0	0	0	11093	1696	59	4	346	4	OR4X1	11	48285756	Missense_Mutation	SNP	T	TCGA-ND-A4WF-01A-11D-A28R-08	42584613	48285756	86720760	41	9238										
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076216	57076216	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	cctccagagtctgggtcacaGgtcacctccaaatccctcag	8	16	4	1			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr11:57076216G>C	ENST00000532437.1	-	5	4280	c.3969C>G	c.(3967-3969)acC>acG	p.T1323T	TNKS1BP1_ENST00000358252.3_Silent_p.T1323T|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1323	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGGGTCACAGGTCACCTCCA	0.612																																						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.(3967-3969)acC>acG		tankyrase 1 binding protein 1, 182kDa							135	147	143					11																	57076216		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.chr11:57076216G>C	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.3969C>G	11.37:g.57076216G>C			Somatic				TNKS1BP1_ENST00000358252.3_Silent_p.T1323T	p.T1323T			WXS	Illumina GAIIx	Phase_I	Q9C0C2	TB182_HUMAN			5	4280	-		all_epithelial(135;0.21)	1323			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.3969C>G	CCDS7951.1																																																																																				0.612	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		206	252	0	0	0	1	0	206	252					C	57076216	G	C	57076216	2	2	49	1	0	0	0	0	0	0	0	1	16335	987	35	5		5	TNKS1BP1	11	57076216	Silent	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08	8790460	57076216	77930300	42	9239										
CHD4	1108	broad.mit.edu	37	chr12	6686974	6686974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	aaaccttcgagctagaaattTattcttgatctctaagaaat	5	7	2	3			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr12:6686974T>C	ENST00000357008.2	-	37	5501	c.5338A>G	c.(5338-5340)Aaa>Gaa	p.K1780E	CHD4_ENST00000309577.6_Missense_Mutation_p.K1808E|CHD4_ENST00000544040.1_Missense_Mutation_p.K1773E|CHD4_ENST00000544484.1_Missense_Mutation_p.K1805E|RP5-940J5.6_ENST00000501075.2_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1780	Required for interaction with PCNT.				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						GCTAGAAATTTATTCTTGATC	0.468																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(5422-5424)Aaa>Gaa		chromodomain helicase DNA binding protein 4							103	105	104					12																	6686974		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.chr12:6686974T>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.5338A>G	12.37:g.6686974T>C	ENSP00000349508:p.Lys1780Glu		Somatic				CHD4_ENST00000544484.1_Missense_Mutation_p.K1805E|CHD4_ENST00000544040.1_Missense_Mutation_p.K1773E|CHD4_ENST00000357008.2_Missense_Mutation_p.K1780E	p.K1808E			WXS	Illumina GAIIx	Phase_I	Q14839	CHD4_HUMAN			36	5585	-			1780			Required for interaction with PCNT.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.5422A>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	34	5.303741	0.95601	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.93488	-3.23;-3.13;-3.23;-3.14	5.51	5.51	0.81932	CHD, C-terminal 2 (1);	0.000000	0.85682	D	0.000000	D	0.96222	0.8768	M	0.70595	2.14	0.80722	D	1	D;D;D	0.69078	0.99;0.997;0.989	D;D;P	0.79108	0.979;0.992;0.885	D	0.96721	0.9532	10	0.87932	D	0	-9.1798	15.924	0.79597	0.0:0.0:0.0:1.0	.	1808;1780;1773	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	E	1805;1773;1808;1780;1754	ENSP00000440392:K1805E;ENSP00000440542:K1773E;ENSP00000312419:K1808E;ENSP00000349508:K1780E	ENSP00000312419:K1808E	K	-	1	0	CHD4	6557235	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.217000	0.71921	0.533000	0.62120	AAA		0.468	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		100	2	0	0	0	1	0	100	2					C	6686974	T	C	6686974	3	2	49	1	0	0	0	0	1	0	0	0	3329	1763	61	4	416	4	CHD4	12	6686974	Missense_Mutation	SNP	T	TCGA-ND-A4WF-01A-11D-A28R-08		6686974	127164921	43	9240										
APOBEC1	339	broad.mit.edu	37	chr12	7803729	7803729	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	gacaaaattcctccagcagtGataatactctaaggaaacac	6	10	1	1			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr12:7803729G>T	ENST00000229304.4	-	4	471	c.451C>A	c.(451-453)Cac>Aac	p.H151N		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	151					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTCCAGCAGTGATAATACTCT	0.458																																					Pancreas(135;929 1826 4531 10527 41012)	ENST00000229304.4																			0				kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(451-453)Cac>Aac		apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1							100	91	94					12																	7803729		2203	4300	6503	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7803729G>T	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"Apolipoprotein B mRNA editing enzymes"	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.451C>A	12.37:g.7803729G>T	ENSP00000229304:p.His151Asn		Somatic					p.H151N	NM_001644.3	NP_001635.2	WXS	Illumina GAIIx	Phase_I	P41238	ABEC1_HUMAN			4	471	-			151					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.451C>A	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	G	9.241	1.038169	0.19669	.	.	ENSG00000111701	ENST00000229304	T	0.64438	-0.1	4.9	-4.5	0.03493	APOBEC-like, C-terminal (1);	0.848754	0.10132	N	0.711913	T	0.60830	0.2299	M	0.73217	2.22	0.09310	N	1	P	0.42584	0.784	B	0.42738	0.396	T	0.60454	-0.7260	10	0.54805	T	0.06	-4.908	12.5321	0.56122	0.7855:0.0:0.2145:0.0	.	151	P41238	ABEC1_HUMAN	N	151	ENSP00000229304:H151N	ENSP00000229304:H151N	H	-	1	0	APOBEC1	7694996	0.091000	0.21658	0.011000	0.14972	0.193000	0.23685	0.103000	0.15292	-0.973000	0.03555	0.655000	0.94253	CAC		0.458	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		48	25	1	0	1.23103e-26	1	1.35537e-26	48	25					T	7803729	G	T	7803729	3	4	49	1	0	0	0	0	1	0	0	0	787	1290	45	2	267	2	APOBEC1	12	7803729	Missense_Mutation	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08	1116755	7803729	126048166	44	9241										
PTPRO	5800	broad.mit.edu	37	chr12	15704527	15704527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	ggtagtgatctccgtgctggCcatccttagcacacttttaa	9	11	1	1			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr12:15704527C>T	ENST00000281171.4	+	15	2810	c.2480C>T	c.(2479-2481)gCc>gTc	p.A827V	PTPRO_ENST00000542557.1_Missense_Mutation_p.A16V|PTPRO_ENST00000445537.2_Missense_Mutation_p.A16V|PTPRO_ENST00000348962.2_Missense_Mutation_p.A827V|PTPRO_ENST00000544244.1_Missense_Mutation_p.A16V|PTPRO_ENST00000442921.2_Missense_Mutation_p.A16V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	827					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)				TCCGTGCTGGCCATCCTTAGC	0.383																																						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.(2479-2481)gCc>gTc		protein tyrosine phosphatase, receptor type, O							287	250	263					12																	15704527		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15704527C>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.2480C>T	12.37:g.15704527C>T	ENSP00000281171:p.Ala827Val		Somatic				PTPRO_ENST00000544244.1_Missense_Mutation_p.A16V|PTPRO_ENST00000445537.2_Missense_Mutation_p.A16V|PTPRO_ENST00000442921.2_Missense_Mutation_p.A16V|PTPRO_ENST00000542557.1_Missense_Mutation_p.A16V|PTPRO_ENST00000348962.2_Missense_Mutation_p.A827V	p.A827V	NM_030667.2	NP_109592.1	WXS	Illumina GAIIx	Phase_I	Q16827	PTPRO_HUMAN			15	2810	+		Hepatocellular(102;0.244)	827					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2480C>T	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238318	0.95240	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.05258	3.56;3.75;3.47;3.75;3.47;3.75	5.2	5.2	0.72013	.	0.000000	0.48767	D	0.000179	T	0.14356	0.0347	N	0.24115	0.695	0.53005	D	0.999965	D;D;D	0.63880	0.993;0.986;0.976	D;P;P	0.72625	0.978;0.88;0.761	T	0.24476	-1.0159	10	0.25106	T	0.35	.	18.921	0.92525	0.0:1.0:0.0:0.0	.	16;827;827	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	V	827;827;16;16;16;16	ENSP00000281171:A827V;ENSP00000343434:A827V;ENSP00000404188:A16V;ENSP00000437571:A16V;ENSP00000393449:A16V;ENSP00000439234:A16V	ENSP00000281171:A827V	A	+	2	0	PTPRO	15595794	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.784000	0.75084	2.693000	0.91896	0.563000	0.77884	GCC		0.383	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			4	116	0	0	0	1	0	4	116					T	15704527	C	T	15704527	3	4	49	1	0	0	0	0	1	0	0	0	12824	739	26	3	2538	3	PTPRO	12	15704527	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	7900798	15704527	118147368	45	9242										
ABCC9	10060	broad.mit.edu	37	chr12	22040812	22040812	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	gaagcgaactttcaccagttCgccaactgtcgtcaccaatc	7	14	2	0	rs139539832		TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr12:22040812C>A	ENST00000261201.4	-	13	1858	c.1859G>T	c.(1858-1860)cGa>cTa	p.R620L	ABCC9_ENST00000345162.2_Missense_Mutation_p.R620L|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.R620L	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	620					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)	TTCACCAGTTCGCCAACTGTC	0.383																																						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.(1858-1860)cGa>cTa		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						119	116	117					12																	22040812		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.chr12:22040812C>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.1859G>T	12.37:g.22040812C>A	ENSP00000261201:p.Arg620Leu		Somatic				ABCC9_ENST00000345162.2_Missense_Mutation_p.R620L|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.R620L	p.R620L	NM_020297.2	NP_064693.2	WXS	Illumina GAIIx	Phase_I	O60706	ABCC9_HUMAN			13	1858	-			620					O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.1859G>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817766	0.32145	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.92299	-2.99;-2.87;-3.0;-3.01	5.16	4.27	0.50696	.	0.050628	0.85682	D	0.000000	D	0.85128	0.5626	N	0.25201	0.72	0.48696	D	0.999698	B;P	0.43973	0.449;0.823	B;B	0.37692	0.115;0.256	D	0.83960	0.0321	10	0.28530	T	0.3	-4.0897	14.9572	0.71124	0.1438:0.8562:0.0:0.0	.	620;620	O60706;O60706-2	ABCC9_HUMAN;.	L	620;283;620;620	ENSP00000261200:R620L;ENSP00000440521:R283L;ENSP00000261201:R620L;ENSP00000261202:R620L	ENSP00000261200:R620L	R	-	2	0	ABCC9	21932079	1.000000	0.71417	0.603000	0.28903	0.638000	0.38207	4.002000	0.57053	1.415000	0.47037	0.561000	0.74099	CGA		0.383	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		7	347	1	0	0.00307968	1	0.00316684	7	347					A	22040812	C	A	22040812	3	1	49	1	0	0	0	0	1	0	0	0	59	884	31	2	3036	2	ABCC9	12	22040812	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	6336285	22040812	111811083	46	9243										
LUM	4060	broad.mit.edu	37	chr12	91502614	91502614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	catcacagtacatggcacttGggtagctttcagggcagtta	11	9	2	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr12:91502614G>A	ENST00000266718.4	-	2	597	c.143C>T	c.(142-144)cCa>cTa	p.P48L	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	48	Cys-rich.|LRRNT.				carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CATGGCACTTGGGTAGCTTTC	0.418																																						ENST00000266718.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(142-144)cCa>cTa		lumican							110	106	107					12																	91502614		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91502614G>A	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6724	protein-coding gene	gene with protein product	"lumican proteoglycan"	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.143C>T	12.37:g.91502614G>A	ENSP00000266718:p.Pro48Leu		Somatic				LUM_ENST00000548071.1_Intron	p.P48L	NM_002345.3	NP_002336.1	WXS	Illumina GAIIx	Phase_I	P51884	LUM_HUMAN			2	597	-			48			Cys-rich.|LRRNT.		B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.143C>T	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501878	0.85176	.	.	ENSG00000139329	ENST00000266718	D	0.96136	-3.92	5.66	5.66	0.87406	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97717	0.9251	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.96420	0.9311	10	0.29301	T	0.29	-15.1291	20.1225	0.97967	0.0:0.0:1.0:0.0	.	48	P51884	LUM_HUMAN	L	48	ENSP00000266718:P48L	ENSP00000266718:P48L	P	-	2	0	LUM	90026745	1.000000	0.71417	0.753000	0.31225	0.863000	0.49368	9.420000	0.97426	2.831000	0.97527	0.650000	0.86243	CCA		0.418	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		18	23	0	0	0	1	0	18	23					A	91502614	G	A	91502614	3	1	49	1	0	0	0	0	1	0	0	0	9094	1348	47	3	881	3	LUM	12	91502614	Missense_Mutation	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08	69461802	91502614	42349281	47	9244										
SLC5A8	160728	broad.mit.edu	37	chr12	101551128	101551128	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	gtggttgaaagcaggattatCagttccaccatcttccactg	9	10	2	1			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr12:101551128C>G	ENST00000536262.2	-	15	2320	c.1762G>C	c.(1762-1764)Gat>Cat	p.D588H		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCAGGATTATCAGTTCCACCA	0.388																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1762-1764)Gat>Cat		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							132	110	118					12																	101551128		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.chr12:101551128C>G	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.1762G>C	12.37:g.101551128C>G	ENSP00000445340:p.Asp588His		Somatic					p.D588H	NM_145913.3	NP_666018.3	WXS	Illumina GAIIx	Phase_I	Q8N695	SC5A8_HUMAN			15	2320	-			588						Missense_Mutation	SNP	ENST00000536262.2	37	c.1762G>C	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653098	0.67472	.	.	ENSG00000256870	ENST00000536262	D	0.86497	-2.13	5.15	4.2	0.49525	.	0.195225	0.41294	D	0.000918	D	0.84142	0.5407	L	0.50333	1.59	0.44181	D	0.996993	P	0.43826	0.818	B	0.42343	0.384	D	0.85355	0.1104	10	0.52906	T	0.07	.	12.981	0.58564	0.1605:0.8395:0.0:0.0	.	588	Q8N695	SC5A8_HUMAN	H	588	ENSP00000445340:D588H	ENSP00000445340:D588H	D	-	1	0	SLC5A8	100075259	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.691000	0.37721	2.574000	0.86865	0.655000	0.94253	GAT		0.388	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		11	15	0	0	0	1	0	11	15					G	101551128	C	G	101551128	3	3	49	1	0	0	0	0	1	0	0	0	14686	826	29	2	74	2	SLC5A8	12	101551128	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	10048514	101551128	32300767	48	9245										
C12orf42	374470	broad.mit.edu	37	chr12	103696308	103696308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	ctggctcctcctgcagaggcCgatggcagtggaaggtctgg	16	11	1	1	rs371400301		TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr12:103696308C>T	ENST00000378113.2	-	6	886	c.661G>A	c.(661-663)Ggc>Agc	p.G221S	C12orf42_ENST00000548048.1_Missense_Mutation_p.G154S|C12orf42_ENST00000548883.1_Missense_Mutation_p.G221S|C12orf42_ENST00000315192.8_Intron	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	221										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CTGCAGAGGCCGATGGCAGTG	0.667																																						ENST00000548048.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(460-462)Ggc>Agc		chromosome 12 open reading frame 42		C	SER/GLY,SER/GLY	2,3932		0,2,1965	29	33	31		661,661	0.5	0	12		31	0,8298		0,0,4149	no	missense,missense	C12orf42	NM_001099336.1,NM_198521.2	56,56	0,2,6114	TT,TC,CC		0.0,0.0508,0.0164	probably-damaging,probably-damaging	221/361,221/361	103696308	2,12230	1967	4149	6116	SO:0001583	missense	374470							g.chr12:103696308C>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.661G>A	12.37:g.103696308C>T	ENSP00000367353:p.Gly221Ser		Somatic				C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.G221S|C12orf42_ENST00000378113.2_Missense_Mutation_p.G221S	p.G154S			WXS	Illumina GAIIx	Phase_I	Q96LP6	CL042_HUMAN			9	956	-			221					Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	c.460G>A	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307324	0.60305	5.08E-4	0.0	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113	T;T;T	0.64991	-0.13;-0.13;-0.13	4.39	0.502	0.16932	.	0.340024	0.21521	N	0.073201	T	0.42314	0.1197	L	0.34521	1.04	0.09310	N	1	P	0.45902	0.868	B	0.35813	0.211	T	0.38950	-0.9637	10	0.87932	D	0	-3.4622	7.4474	0.27219	0.0:0.6237:0.0:0.3763	.	221	Q96LP6	CL042_HUMAN	S	221;154;221	ENSP00000447908:G221S;ENSP00000449362:G154S;ENSP00000367353:G221S	ENSP00000367353:G221S	G	-	1	0	C12orf42	102220438	0.000000	0.05858	0.017000	0.16124	0.066000	0.16364	0.028000	0.13644	0.193000	0.20303	-0.291000	0.09656	GGC		0.667	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		34	57	0	0	0	1	0	34	57					T	103696308	C	T	103696308	3	4	49	1	0	0	0	0	1	0	0	0	1690	652	23	1	425	1	C12orf42	12	103696308	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	2145180	103696308	30155587	49	9246										
SEC23A	10484	broad.mit.edu	37	chr14	39556161	39556161	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	aggaggtggctgctgtacctGaggaccacgtgttgcttgag	16	8	0	2			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr14:39556161G>A	ENST00000307712.6	-	6	1172	c.655C>T	c.(655-657)Cag>Tag	p.Q219*	SEC23A_ENST00000536508.1_Nonsense_Mutation_p.Q93*|SEC23A_ENST00000537403.1_Nonsense_Mutation_p.Q17*|SEC23A_ENST00000545328.2_Nonsense_Mutation_p.Q190*	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	219					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)		TGCTGTACCTGAGGACCACGT	0.383																																						ENST00000537403.1																			0				kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(49-51)Cag>Tag		Sec23 homolog A (S. cerevisiae)							125	118	120					14																	39556161		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.chr14:39556161G>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.655C>T	14.37:g.39556161G>A	ENSP00000306881:p.Gln219*		Somatic				SEC23A_ENST00000307712.6_Nonsense_Mutation_p.Q219*|SEC23A_ENST00000545328.2_Nonsense_Mutation_p.Q190*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.Q93*	p.Q17*			WXS	Illumina GAIIx	Phase_I	Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	2	1251	-	Hepatocellular(127;0.213)		219					B2R5P4|B3KXI2|Q8NE16	Nonsense_Mutation	SNP	ENST00000307712.6	37	c.49C>T	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	G	37	6.254996	0.97417	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328;ENST00000554645	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-8.3376	19.8415	0.96690	0.0:0.0:1.0:0.0	.	.	.	.	X	17;219;93;190;107	.	ENSP00000306881:Q219X	Q	-	1	0	SEC23A	38625912	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.792000	0.91856	2.700000	0.92200	0.655000	0.94253	CAG		0.383	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			24	9	0	0	0	1	0	24	9					A	39556161	G	A	39556161	4	1	49	1	0	0	0	0	0	1	0	0	14006	1299	45	3	1702	3	SEC23A	14	39556161	Nonsense_Mutation	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08		39556161	67793379	50	9247										
NUDT14	256281	broad.mit.edu	37	chr14	105639417	105639417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	ccatgagacaccaaagatgaCgccgagggtcttggggatgt	14	9	1	3	rs368844988		TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr14:105639417C>T	ENST00000392568.2	-	5	703	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	NUDT14_ENST00000550912.1_5'UTR|RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	204	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)	p.V204I(1)		cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCAAAGATGACGCCGAGGGTC	0.627										HNSCC(42;0.11)																												ENST00000392568.2																			1	Substitution - Missense(1)	p.V204I(1)	ovary(1)	cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14						c.(610-612)Gtc>Atc		nudix (nucleoside diphosphate linked moiety X)-type motif 14							77	78	78					14																	105639417		2202	4293	6495	SO:0001583	missense	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105639417C>T	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"Nudix motif containing"	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.610G>A	14.37:g.105639417C>T	ENSP00000376349:p.Val204Ile	HNSCC(42;0.11)	Somatic				RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'UTR	p.V204I	NM_177533.4	NP_803877.2	WXS	Illumina GAIIx	Phase_I	O95848	NUD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	5	703	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	204			Nudix hydrolase.		Q86SJ8	Missense_Mutation	SNP	ENST00000392568.2	37	c.610G>A	CCDS10000.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538210	0.45176	.	.	ENSG00000183828	ENST00000392568	T	0.39787	1.06	3.32	3.32	0.38043	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.079472	0.50627	D	0.000114	T	0.44664	0.1304	L	0.39085	1.19	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.40515	-0.9559	10	0.02654	T	1	-30.0639	10.4116	0.44296	0.0:1.0:0.0:0.0	.	204	O95848	NUD14_HUMAN	I	204	ENSP00000376349:V204I	ENSP00000376349:V204I	V	-	1	0	NUDT14	104710462	0.803000	0.28956	0.388000	0.26195	0.200000	0.23975	1.523000	0.35932	2.157000	0.67596	0.462000	0.41574	GTC		0.627	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	NM_177533		57	22	0	0	0	1	0	57	22					T	105639417	C	T	105639417	3	4	49	1	0	0	0	0	1	0	0	0	10739	536	19	1	62	1	NUDT14	14	105639417	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	66083256	105639417	1710123	51	9248										
NFAT5	10725	broad.mit.edu	37	chr16	69724960	69724960	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	tgttactccaatggaagtaaCagcagaaaaaagatcttcca	7	8	1	2			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr16:69724960C>A	ENST00000354436.2	+	11	2156	c.1838C>A	c.(1837-1839)aCa>aAa	p.T613K	NFAT5_ENST00000567239.1_Missense_Mutation_p.T630K|NFAT5_ENST00000393742.2_Missense_Mutation_p.T537K|NFAT5_ENST00000349945.1_Missense_Mutation_p.T537K|NFAT5_ENST00000566899.1_Missense_Mutation_p.T537K|NFAT5_ENST00000432919.1_Missense_Mutation_p.T631K	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	613					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATGGAAGTAACAGCAGAAAAA	0.328																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1609-1611)aCa>aAa		nuclear factor of activated T-cells 5, tonicity-responsive							87	85	86					16																	69724960		2198	4298	6496	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69724960C>A	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1838C>A	16.37:g.69724960C>A	ENSP00000346420:p.Thr613Lys		Somatic				NFAT5_ENST00000566899.1_Missense_Mutation_p.T537K|NFAT5_ENST00000393742.2_Missense_Mutation_p.T537K|NFAT5_ENST00000567239.1_Missense_Mutation_p.T630K|NFAT5_ENST00000354436.2_Missense_Mutation_p.T613K|NFAT5_ENST00000432919.1_Missense_Mutation_p.T631K	p.T537K	NM_138714.3	NP_619728.2	WXS	Illumina GAIIx	Phase_I	O94916	NFAT5_HUMAN			13	3162	+			613					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.1610C>A	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463447	0.63513	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.27	5.27	0.74061	.	0.213076	0.48767	D	0.000170	T	0.36248	0.0960	L	0.44542	1.39	0.47476	D	0.999431	P;P;P	0.40909	0.732;0.732;0.608	B;B;B	0.32864	0.154;0.154;0.11	T	0.17471	-1.0368	10	0.18276	T	0.48	-2.9698	15.5125	0.75795	0.0:0.8519:0.1481:0.0	.	630;613;631	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	K	631;630;537;613;537	ENSP00000396538:T631K;ENSP00000338806:T537K;ENSP00000346420:T613K;ENSP00000377343:T537K	ENSP00000338806:T537K	T	+	2	0	NFAT5	68282461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.466000	0.53071	2.466000	0.83321	0.655000	0.94253	ACA		0.328	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		13	31	1	0	7.03913e-09	1	7.67265e-09	13	31					A	69724960	C	A	69724960	3	1	49	1	0	0	0	0	1	0	0	0	10369	478	17	5	1938	5	NFAT5	16	69724960	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08		69724960	20629793	52	9249										
DNAH2	146754	broad.mit.edu	37	chr17	7683556	7683556	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	ggtggtgcctgactccacccTcattgcagaaatcattctct	8	13	3	2			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr17:7683556T>A	ENST00000572933.1	+	37	7264	c.5804T>A	c.(5803-5805)cTc>cAc	p.L1935H	DNAH2_ENST00000389173.2_Missense_Mutation_p.L1935H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1935	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GACTCCACCCTCATTGCAGAA	0.453																																						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.(5803-5805)cTc>cAc		dynein, axonemal, heavy chain 2							192	186	188					17																	7683556		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.chr17:7683556T>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.5804T>A	17.37:g.7683556T>A	ENSP00000458355:p.Leu1935His		Somatic				DNAH2_ENST00000389173.2_Missense_Mutation_p.L1935H	p.L1935H			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			37	7264	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1935			AAA 1 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.5804T>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.180831	0.78677	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.16324	2.35	5.21	5.21	0.72293	.	0.160189	0.41294	D	0.000904	T	0.48114	0.1482	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.57510	-0.7799	10	0.87932	D	0	.	14.2055	0.65732	0.0:0.0:0.0:1.0	.	1935	Q9P225	DYH2_HUMAN	H	1935	ENSP00000373825:L1935H	ENSP00000353818:L1935H	L	+	2	0	DNAH2	7624281	1.000000	0.71417	0.744000	0.31058	0.989000	0.77384	5.964000	0.70379	2.194000	0.70268	0.459000	0.35465	CTC		0.453	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		10	149	0	0	0	1	0	10	149					A	7683556	T	A	7683556	3	1	49	1	0	0	0	0	1	0	0	0	4604	1551	54	4	5946	4	DNAH2	17	7683556	Missense_Mutation	SNP	T	TCGA-ND-A4WF-01A-11D-A28R-08		7683556	73511654	53	9250										
NOS2	4843	broad.mit.edu	37	chr17	26116637	26116637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	gtgactcactgacctttcccGtctccacgaggggctgcggg	13	14	2	2	rs141421929	byFrequency	TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr17:26116637G>A	ENST00000313735.6	-	3	421	c.188C>T	c.(187-189)aCg>aTg	p.T63M		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	63					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GACCTTTCCCGTCTCCACGAG	0.567																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(187-189)aCg>aTg		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	G	MET/THR	0,4406		0,0,2203	178	154	162		188	-1.9	0	17	dbSNP_134	162	6,8594	5.0+/-18.6	0,6,4294	yes	missense	NOS2	NM_000625.4	81	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	benign	63/1154	26116637	6,13000	2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26116637G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.188C>T	17.37:g.26116637G>A	ENSP00000327251:p.Thr63Met		Somatic					p.T63M	NM_000625.4	NP_000616.3	WXS	Illumina GAIIx	Phase_I	P35228	NOS2_HUMAN			3	421	-			63					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.188C>T	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400130	0.25291	0.0	6.98E-4	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.01705	4.68	5.12	-1.86	0.07760	.	1.452580	0.04315	N	0.349715	T	0.01592	0.0051	L	0.32530	0.975	0.09310	N	1	B;B	0.32693	0.38;0.024	B;B	0.21151	0.033;0.006	T	0.46317	-0.9200	10	0.45353	T	0.12	.	5.1794	0.15152	0.3939:0.0:0.4726:0.1335	.	63;63	F8WEM3;P35228	.;NOS2_HUMAN	M	63	ENSP00000327251:T63M	ENSP00000305638:T63M	T	-	2	0	NOS2	23140764	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	0.097000	0.15168	0.039000	0.15632	0.557000	0.71058	ACG		0.567	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		78	3	0	0	0	1	0	78	3					A	26116637	G	A	26116637	3	1	49	1	0	0	0	0	1	0	0	0	10552	1145	40	1	3373	1	NOS2	17	26116637	Missense_Mutation	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08	18433081	26116637	55078573	54	9251										
UNC119	9094	broad.mit.edu	37	chr17	26875096	26875096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	cccagcattggggtccaggtCccgccggttgatgggcaacc	14	14	0	1			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr17:26875096C>T	ENST00000335765.4	-	3	468	c.358G>A	c.(358-360)Gac>Aac	p.D120N	UNC119_ENST00000484980.1_Missense_Mutation_p.D25N|UNC119_ENST00000470125.1_Missense_Mutation_p.D25N|UNC119_ENST00000301032.4_Missense_Mutation_p.D120N	NM_005148.3	NP_005139.1	Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	120					cytokinesis, completion of separation (GO:0007109)|endocytosis (GO:0006897)|lipoprotein transport (GO:0042953)|negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of clathrin-mediated endocytosis (GO:1900186)|phototransduction (GO:0007602)|positive regulation of protein tyrosine kinase activity (GO:0061098)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	lipid binding (GO:0008289)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					GGGTCCAGGTCCCGCCGGTTG	0.652											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000484980.1																			0				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7						c.(73-75)Gac>Aac		unc-119 homolog (C. elegans)							38	37	37					17																	26875096		2203	4300	6503	SO:0001583	missense	9094				phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction		g.chr17:26875096C>T	U40998	CCDS11233.1, CCDS11234.1	17q11.2	2014-09-17	2001-11-28		ENSG00000109103	ENSG00000109103			12565	protein-coding gene	gene with protein product	"POC7 centriolar protein homolog A (Chlamydomonas)"	604011	"unc119 (C.elegans) homolog"			8576185, 9538874	Standard	NM_005148		Approved	HRG4, POC7, POC7A	uc002hbk.2	Q13432	OTTHUMG00000132606	ENST00000335765.4:c.358G>A	17.37:g.26875096C>T	ENSP00000337040:p.Asp120Asn		Somatic	OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	UNC119_ENST00000470125.1_Missense_Mutation_p.D25N|UNC119_ENST00000301032.4_Missense_Mutation_p.D120N|UNC119_ENST00000335765.4_Missense_Mutation_p.D120N	p.D25N			WXS	Illumina GAIIx	Phase_I	Q13432	U119A_HUMAN			2	3234	-	Lung NSC(42;0.00431)		120					A8K8G4|F1T095|O95126	Missense_Mutation	SNP	ENST00000335765.4	37	c.73G>A	CCDS11233.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313351	0.95655	.	.	ENSG00000109103	ENST00000335765;ENST00000301032;ENST00000444148	T;T;T	0.78126	-1.13;-1.15;-1.15	5.81	5.81	0.92471	Immunoglobulin E-set (1);	0.190919	0.53938	D	0.000060	D	0.86372	0.5917	M	0.83312	2.635	0.80722	D	1	P;P	0.48503	0.911;0.715	P;P	0.53401	0.725;0.586	D	0.87033	0.2136	10	0.54805	T	0.06	-28.3987	18.2592	0.90028	0.0:1.0:0.0:0.0	.	120;120	F1T095;Q13432	.;U119A_HUMAN	N	120;120;113	ENSP00000337040:D120N;ENSP00000301032:D120N;ENSP00000414639:D113N	ENSP00000301032:D120N	D	-	1	0	UNC119	23899223	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.370000	0.79589	2.757000	0.94681	0.462000	0.41574	GAC		0.652	UNC119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255842.2			35	2	0	0	0	1	0	35	2					T	26875096	C	T	26875096	3	4	49	1	0	0	0	0	1	0	0	0	16997	855	30	3	429	3	UNC119	17	26875096	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	758459	26875096	54320114	55	9252										
CCL14	6358	broad.mit.edu	37	chr17	34310906	34310906	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	gggttggtacagacggaatgGccccttttggtgatgaagct	15	7	0	3			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr17:34310906G>A	ENST00000394509.4	-	3	321	c.213C>T	c.(211-213)ggC>ggT	p.G71G	CCL14_ENST00000586216.1_3'UTR|CCL14_ENST00000480944.2_Silent_p.G93G|CCL15-CCL14_ENST00000481427.2_3'UTR|CTB-186H2.3_ENST00000591669.1_5'Flank|CCL14_ENST00000536149.1_Silent_p.G87G|CTB-186H2.3_ENST00000593057.1_Intron|CCL16_ENST00000293275.3_5'Flank|CCL14_ENST00000435911.2_Silent_p.G87G			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	71					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)	extracellular space (GO:0005615)				large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGACGGAATGGCCCCTTTTGG	0.557																																						ENST00000480944.2																			0				large_intestine(1)|lung(6)	7						c.(277-279)ggC>ggT		chemokine (C-C motif) ligand 14							145	113	124					17																	34310906		2203	4300	6503	SO:0001819	synonymous_variant	6358				cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	g.chr17:34310906G>A	Z49270	CCDS32624.1, CCDS45652.1	17q11.2	2014-04-10	2002-08-22	2002-08-23	ENSG00000213494	ENSG00000276409		"Chemokine ligands", "Endogenous ligands"	10612	protein-coding gene	gene with protein product		601392	"small inducible cytokine subfamily A (Cys-Cys), member 14"	SCYA14		8661057	Standard	NM_032963		Approved	HCC-1, HCC-3, NCC-2, SCYL2, CKb1, MCIF	uc010wcq.1	Q16627	OTTHUMG00000188403	ENST00000394509.4:c.213C>T	17.37:g.34310906G>A			Somatic				CCL15-CCL14_ENST00000481427.2_3'UTR|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000536149.1_Silent_p.G87G|CCL14_ENST00000394509.4_Silent_p.G71G|CCL14_ENST00000586216.1_3'UTR|CCL14_ENST00000435911.2_Silent_p.G87G	p.G93G			WXS	Illumina GAIIx	Phase_I	Q16627	CCL14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	2685	-		Ovarian(249;0.17)	71					E1P649|E1P650|Q13954	Silent	SNP	ENST00000394509.4	37	c.279C>T	CCDS32624.1																																																																																				0.557	CCL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272892.2	NM_032962		5	52	0	0	0	1	0	5	52					A	34310906	G	A	34310906	2	1	49	1	0	0	0	0	0	0	0	1	2887	1190	42	3		3	CCL14	17	34310906	Silent	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08	7435810	34310906	46884304	56	9253										
LRRC37A3	374819	broad.mit.edu	37	chr17	62892272	62892272	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	gattcgacctccctagaagaCtcagaaggctgaactggctg	11	11	1	4			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr17:62892272C>G	ENST00000584306.1	-	3	1634	c.1104G>C	c.(1102-1104)gaG>gaC	p.E368D	RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000577487.1_5'Flank|RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.E368D	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	368						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCCTAGAAGACTCAGAAGGCT	0.537																																						ENST00000584306.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1102-1104)gaG>gaC		leucine rich repeat containing 37, member A3							25	32	29					17																	62892272		1969	4070	6039	SO:0001583	missense	374819					integral to membrane		g.chr17:62892272C>G	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.1104G>C	17.37:g.62892272C>G	ENSP00000464535:p.Glu368Asp		Somatic				RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.E368D|RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000400877.3_Intron	p.E368D	NM_199340.2	NP_955372.2	WXS	Illumina GAIIx	Phase_I	O60309	L37A3_HUMAN			3	1634	-			368					Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.1104G>C	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	6.642	0.486910	0.12641	.	.	ENSG00000176809	ENST00000319651	T	0.68479	-0.33	2.69	0.58	0.17402	.	.	.	.	.	T	0.51975	0.1706	L	0.39566	1.225	0.09310	N	1	B	0.24721	0.11	B	0.22386	0.039	T	0.41680	-0.9495	9	0.45353	T	0.12	.	5.0543	0.14524	0.0:0.6916:0.0:0.3084	.	368	O60309	L37A3_HUMAN	D	368	ENSP00000325713:E368D	ENSP00000325713:E368D	E	-	3	2	LRRC37A3	60322734	0.001000	0.12720	0.000000	0.03702	0.071000	0.16799	0.247000	0.18179	0.046000	0.15833	-0.768000	0.03414	GAG		0.537	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		90	399	0	0	0	1	0	90	399					G	62892272	C	G	62892272	3	3	49	1	0	0	0	0	1	0	0	0	9002	564	20	5	3848	5	LRRC37A3	17	62892272	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	28581366	62892272	18302938	57	9254										
GAA	2548	broad.mit.edu	37	chr17	78081505	78081505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	caggatcaccctgtggaaccGggaccttgcgcccacggtac	12	15	1	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr17:78081505G>A	ENST00000302262.3	+	4	1061	c.842G>A	c.(841-843)cGg>cAg	p.R281Q	GAA_ENST00000390015.3_Missense_Mutation_p.R281Q	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	281					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)			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)	CTGTGGAACCGGGACCTTGCG	0.692																																						ENST00000302262.3																			0				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.(841-843)cGg>cAg		glucosidase, alpha; acid	Acarbose(DB00284)						41	39	40					17																	78081505		2203	4300	6503	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.chr17:78081505G>A		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.842G>A	17.37:g.78081505G>A	ENSP00000305692:p.Arg281Gln		Somatic				GAA_ENST00000390015.3_Missense_Mutation_p.R281Q	p.R281Q	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)		4	1061	+	all_neural(118;0.117)		281					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.842G>A	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621300	0.87460	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.86164	-2.08;-2.08	5.08	5.08	0.68730	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.94538	0.8241	M	0.89534	3.04	0.44771	D	0.997777	D	0.89917	1.0	D	0.79108	0.992	D	0.95415	0.8502	10	0.66056	D	0.02	-53.3697	16.6483	0.85182	0.0:0.0:1.0:0.0	.	281	P10253	LYAG_HUMAN	Q	281	ENSP00000305692:R281Q;ENSP00000374665:R281Q	ENSP00000305692:R281Q	R	+	2	0	GAA	75696100	1.000000	0.71417	0.998000	0.56505	0.226000	0.24999	7.869000	0.87170	2.367000	0.80283	0.655000	0.94253	CGG		0.692	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			68	41	0	0	0	1	0	68	41					A	78081505	G	A	78081505	3	1	49	1	0	0	0	0	1	0	0	0	6155	1116	39	1	852	1	GAA	17	78081505	Missense_Mutation	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08	15189233	78081505	3113705	58	9255										
ONECUT2	9480	broad.mit.edu	37	chr18	55102969	55102969	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	atgaaggctgcctacaccgcCtatcgatgcctcaccaaaga	8	14	1	2			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr18:55102969C>G	ENST00000491143.2	+	1	53	c.21C>G	c.(19-21)gcC>gcG	p.A7A	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	7					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CCTACACCGCCTATCGATGCC	0.721																																						ENST00000491143.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(19-21)gcC>gcG		one cut homeobox 2							13	14	13					18																	55102969		1727	3862	5589	SO:0001819	synonymous_variant	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55102969C>G	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"Homeoboxes / CUT class"	8139	protein-coding gene	gene with protein product		604894	"one cut domain, family member 2"			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.21C>G	18.37:g.55102969C>G			Somatic					p.A7A	NM_004852.2	NP_004843.2	WXS	Illumina GAIIx	Phase_I	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	53	+		Colorectal(73;0.234)	7						Silent	SNP	ENST00000491143.2	37	c.21C>G	CCDS42440.1																																																																																				0.721	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			8	20	0	0	0	1	0	8	20					G	55102969	C	G	55102969	2	3	49	1	0	0	0	0	0	0	0	1	10878	668	24	5		5	ONECUT2	18	55102969	Silent	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08		55102969	22974279	59	9256										
FBN3	84467	broad.mit.edu	37	chr19	8206865	8206865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	tattggggatgaagccgcggCggcaggggtgtggctgtgca	20	7	0	1			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr19:8206865C>T	ENST00000600128.1	-	7	1112	c.698G>A	c.(697-699)cGc>cAc	p.R233H	FBN3_ENST00000270509.2_Missense_Mutation_p.R233H|FBN3_ENST00000601739.1_Missense_Mutation_p.R233H			Q75N90	FBN3_HUMAN	fibrillin 3	233	TB 1.					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						GAAGCCGCGGCGGCAGGGGTG	0.637																																						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.(697-699)cGc>cAc		fibrillin 3							29	35	33					19																	8206865		2202	4300	6502	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8206865C>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.698G>A	19.37:g.8206865C>T	ENSP00000470498:p.Arg233His		Somatic				FBN3_ENST00000270509.2_Missense_Mutation_p.R233H|FBN3_ENST00000601739.1_Missense_Mutation_p.R233H	p.R233H			WXS	Illumina GAIIx	Phase_I	Q75N90	FBN3_HUMAN			7	1112	-			233			TB 1.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.698G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	20.5	4.000705	0.74818	.	.	ENSG00000142449	ENST00000270509	D	0.92752	-3.1	3.95	3.95	0.45737	Matrix fibril-associated (3);	0.000000	0.64402	U	0.000001	D	0.93772	0.8009	L	0.47716	1.5	0.40321	D	0.978821	D	0.89917	1.0	D	0.68765	0.96	D	0.94117	0.7376	10	0.49607	T	0.09	.	15.1368	0.72572	0.0:1.0:0.0:0.0	.	233	Q75N90	FBN3_HUMAN	H	233	ENSP00000270509:R233H	ENSP00000270509:R233H	R	-	2	0	FBN3	8112865	1.000000	0.71417	0.966000	0.40874	0.962000	0.63368	4.491000	0.60326	2.028000	0.59812	0.491000	0.48974	CGC		0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		20	51	0	0	0	1	0	20	51					T	8206865	C	T	8206865	3	4	49	1	0	0	0	0	1	0	0	0	5712	768	27	1	7963	1	FBN3	19	8206865	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08		8206865	50922118	60	9257										
ZNF560	147741	broad.mit.edu	37	chr19	9578448	9578448	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	tgtgagttcgtacatgttcaAgaaagcctgacggcacagtg	12	8	1	3			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr19:9578448A>G	ENST00000301480.4	-	10	1388	c.1175T>C	c.(1174-1176)cTt>cCt	p.L392P		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TACATGTTCAAGAAAGCCTGA	0.428																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1174-1176)cTt>cCt		zinc finger protein 560							119	119	119					19																	9578448		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578448A>G	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1175T>C	19.37:g.9578448A>G	ENSP00000301480:p.Leu392Pro		Somatic					p.L392P	NM_152476.2	NP_689689.2	WXS	Illumina GAIIx	Phase_I	Q96MR9	ZN560_HUMAN			10	1388	-			392					Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.1175T>C	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	A	9.083	0.999759	0.19121	.	.	ENSG00000198028	ENST00000301480	T	0.19250	2.16	2.05	-4.11	0.03928	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25158	0.0611	M	0.71581	2.175	0.09310	N	0.999999	D	0.56035	0.974	P	0.51055	0.657	T	0.02743	-1.1116	9	0.33940	T	0.23	.	3.5506	0.07844	0.4483:0.0:0.1969:0.3547	.	392	Q96MR9	ZN560_HUMAN	P	392	ENSP00000301480:L392P	ENSP00000301480:L392P	L	-	2	0	ZNF560	9439448	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.874000	0.00718	-2.119000	0.00827	-0.415000	0.06103	CTT		0.428	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		35	56	0	0	0	1	0	35	56					G	9578448	A	G	9578448	3	3	49	1	0	0	0	0	1	0	0	0	18006	72	3	4	1201	4	ZNF560	19	9578448	Missense_Mutation	SNP	A	TCGA-ND-A4WF-01A-11D-A28R-08	1371583	9578448	49550535	61	9258										
CACNA1A	773	broad.mit.edu	37	chr19	13470526	13470526	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	tcccgttgttgggcccttccCagtagggctgacatttggtc	12	12	0	1			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr19:13470526C>A	ENST00000360228.5	-	6	871	c.872G>T	c.(871-873)tGg>tTg	p.W291L	CACNA1A_ENST00000573710.2_Missense_Mutation_p.W291L	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	291					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)	GGGCCCTTCCCAGTAGGGCTG	0.547																																						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.(871-873)tGg>tTg		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						83	77	79					19																	13470526		1992	4168	6160	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.chr19:13470526C>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.872G>T	19.37:g.13470526C>A	ENSP00000353362:p.Trp291Leu		Somatic				CACNA1A_ENST00000573710.2_Missense_Mutation_p.W291L	p.W291L	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)		6	871	-			291					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.872G>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859551	0.71834	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96587	-4.06	5.42	5.42	0.78866	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98469	0.9490	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.99548	1.0965	10	0.87932	D	0	.	18.0236	0.89262	0.0:1.0:0.0:0.0	.	291;291	O00555;Q9NS88	CAC1A_HUMAN;.	L	291	ENSP00000353362:W291L	ENSP00000317661:W291L	W	-	2	0	CACNA1A	13331526	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.614000	0.82996	2.542000	0.85734	0.655000	0.94253	TGG		0.547	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		5	4	1	0	0.00116845	1	0.00121296	5	4					A	13470526	C	A	13470526	3	1	49	1	0	0	0	0	1	0	0	0	2540	595	21	5	6930	5	CACNA1A	19	13470526	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	3892078	13470526	45658457	62	9259										
SIGLEC10	89790	broad.mit.edu	37	chr19	51920476	51920476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	agttccccttggcgggatccCcagtgagctggaatcggccc	13	14	0	1			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr19:51920476C>T	ENST00000339313.5	-	2	397	c.281G>A	c.(280-282)gGg>gAg	p.G94E	SIGLEC10_ENST00000436984.2_Missense_Mutation_p.G94E|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G94E|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.G94E|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.G94E|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.G94E|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G94E|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.G94E|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.G94E|CTD-2616J11.2_ENST00000532688.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	94	Ig-like V-type.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGCGGGATCCCCAGTGAGCTG	0.562																																						ENST00000353836.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(280-282)gGg>gAg		sialic acid binding Ig-like lectin 10							61	60	60					19																	51920476		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51920476C>T	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.281G>A	19.37:g.51920476C>T	ENSP00000345243:p.Gly94Glu		Somatic				CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.G94E|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.G94E|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G94E|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.G94E|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G94E|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.G94E|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G94E|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.G94E	p.G94E	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	WXS	Illumina GAIIx	Phase_I	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	2	502	-		all_neural(266;0.0199)	94			Ig-like V-type.		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.281G>A	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	17.24	3.338058	0.60963	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313;ENST00000530476	T;T;T;T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02	4.92	3.89	0.44902	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000020	T	0.52980	0.1768	M	0.93550	3.43	0.09310	N	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.979;1.0;0.999;0.995;0.997	T	0.52837	-0.8522	10	0.87932	D	0	.	9.2535	0.37568	0.0:0.8984:0.0:0.1016	.	94;94;94;94;94;94;94	C9JM10;E9PL79;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	E	94;94;94;94;94;94;94;94;94;61	ENSP00000342389:G94E;ENSP00000396742:G94E;ENSP00000395475:G94E;ENSP00000348646:G94E;ENSP00000408387:G94E;ENSP00000431444:G94E;ENSP00000389132:G94E;ENSP00000414324:G94E;ENSP00000345243:G94E;ENSP00000433838:G61E	ENSP00000345243:G94E	G	-	2	0	SIGLEC10	56612288	0.583000	0.26757	0.005000	0.12908	0.084000	0.17831	3.573000	0.53856	1.071000	0.40834	0.313000	0.20887	GGG		0.562	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		51	37	0	0	0	1	0	51	37					T	51920476	C	T	51920476	3	4	49	1	0	0	0	0	1	0	0	0	14321	623	22	3	1852	3	SIGLEC10	19	51920476	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	38449950	51920476	7208507	63	9260										
PPP2R1A	5518	broad.mit.edu	37	chr19	52715971	52715971	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	cctgtgctcagatgacacccCcatggtgcggcgggccgcag	14	15	1	2			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr19:52715971C>G	ENST00000322088.6	+	5	594	c.536C>G	c.(535-537)cCc>cGc	p.P179R	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.P179R(21)|p.P179L(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		26	Substitution - Missense(26)	p.P179R(21)|p.P179L(5)	endometrium(25)|ovary(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(535-537)cCc>cGc		protein phosphatase 2, regulatory subunit A, alpha							61	52	55					19																	52715971		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715971C>G		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.536C>G	19.37:g.52715971C>G	ENSP00000324804:p.Pro179Arg		Somatic				PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R|PPP2R1A_ENST00000462990.1_5'UTR	p.P179R	NM_014225.5	NP_055040.2	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	594	+			179			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.536C>G	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457832	0.84317	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.16597	2.33;2.33	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.092820	0.45867	D	0.000326	T	0.55226	0.1907	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.995	T	0.70695	-0.4801	10	0.87932	D	0	-22.0504	15.1189	0.72426	0.0:1.0:0.0:0.0	.	124;179;179	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	R	169;99;179;124	ENSP00000324804:P179R;ENSP00000415067:P124R	ENSP00000324804:P179R	P	+	2	0	PPP2R1A	57407783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.760000	0.74939	2.503000	0.84419	0.655000	0.94253	CCC		0.612	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		31	42	0	0	0	1	0	31	42					G	52715971	C	G	52715971	3	3	49	1	0	0	0	0	1	0	0	0	12394	623	22	5	554	5	PPP2R1A	19	52715971	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	795495	52715971	6413012	64	9261										
ZNF671	79891	broad.mit.edu	37	chr19	58234684	58234684	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	ttcccgagagaagtatacaaAcacatcctcaaagaccacac	5	13	1	2			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr19:58234684A>C	ENST00000317398.6	-	2	258	c.163T>G	c.(163-165)Ttt>Gtt	p.F55V	ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000596939.1_Intron|ZNF671_ENST00000335820.3_Intron|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	55	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)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		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)		AAGTATACAAACACATCCTCA	0.458																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(163-165)Ttt>Gtt		zinc finger protein 671							194	182	186					19																	58234684		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58234684A>C		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"Zinc fingers, C2H2-type", "-"	26279	protein-coding gene	gene with protein product	"hypothetical protein FLJ23506"					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.163T>G	19.37:g.58234684A>C	ENSP00000321848:p.Phe55Val		Somatic				ZNF671_ENST00000596939.1_Intron|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_Intron|AC003006.7_ENST00000599221.1_Intron	p.F55V	NM_024833.2	NP_079109.2	WXS	Illumina GAIIx	Phase_I	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	2	258	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	55			KRAB.		A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.163T>G	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.784126	0.49997	.	.	ENSG00000083814	ENST00000317398	T	0.01613	4.73	1.53	-1.05	0.10036	Krueppel-associated box (4);	.	.	.	.	T	0.01124	0.0037	N	0.25201	0.72	0.09310	N	1	P	0.41569	0.755	B	0.31337	0.128	T	0.50171	-0.8859	9	0.41790	T	0.15	.	5.7541	0.18162	0.4458:0.5542:0.0:0.0	.	55	Q8TAW3	ZN671_HUMAN	V	55	ENSP00000321848:F55V	ENSP00000321848:F55V	F	-	1	0	ZNF671	62926496	0.000000	0.05858	0.012000	0.15200	0.767000	0.43475	-1.272000	0.02826	-0.387000	0.07809	0.383000	0.25322	TTT		0.458	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		5	186	0	0	0	1	0	5	186					C	58234684	A	C	58234684	3	2	49	1	0	0	0	0	1	0	0	0	18093	43	2	4	1453	4	ZNF671	19	58234684	Missense_Mutation	SNP	A	TCGA-ND-A4WF-01A-11D-A28R-08	5518713	58234684	894299	65	9262										
CDH26	60437	broad.mit.edu	37	chr20	58533811	58533811	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	agatccgggaggcacccctcGctgctgctgcttctagtgct	12	14	1	1			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr20:58533811G>C	ENST00000244047.5	+	1	341	c.30G>C	c.(28-30)tcG>tcC	p.S10S	CDH26_ENST00000348616.4_Silent_p.S10S			Q8IXH8	CAD26_HUMAN	cadherin 26	10					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGCACCCCTCgctgctgctgc	0.587																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(28-30)tcG>tcC		cadherin 26							88	73	78					20																	58533811		2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58533811G>C	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.30G>C	20.37:g.58533811G>C			Somatic				CDH26_ENST00000244047.5_Silent_p.S10S	p.S10S	NM_177980.2	NP_817089.1	WXS	Illumina GAIIx	Phase_I	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		1	330	+	all_lung(29;0.00963)		10					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.30G>C																																																																																					0.587	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		23	57	0	0	0	1	0	23	57					C	58533811	G	C	58533811	2	2	49	1	0	0	0	0	0	0	0	1	3112	1074	38	5		5	CDH26	20	58533811	Silent	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08		58533811	4491709	66	9263										
USP25	29761	broad.mit.edu	37	chr21	17250147	17250147	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	caagccgcagaactcttcgaAtctggagaggatcgagaagt	12	9	2	3			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr21:17250147A>G	ENST00000285679.6	+	23	3201	c.2832A>G	c.(2830-2832)gaA>gaG	p.E944E	USP25_ENST00000285681.2_Silent_p.E976E|USP25_ENST00000351097.5_Silent_p.E339E|USP25_ENST00000400183.2_Silent_p.E1014E	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	944					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AACTCTTCGAATCTGGAGAGG	0.333																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(2926-2928)gaA>gaG		ubiquitin specific peptidase 25							90	91	91					21																	17250147		2203	4300	6503	SO:0001819	synonymous_variant	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17250147A>G	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"Ubiquitin-specific peptidases"	12624	protein-coding gene	gene with protein product		604736	"ubiquitin specific protease 25"			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2832A>G	21.37:g.17250147A>G			Somatic				USP25_ENST00000285679.6_Silent_p.E944E|USP25_ENST00000351097.5_Silent_p.E339E|USP25_ENST00000400183.2_Silent_p.E1014E	p.E976E			WXS	Illumina GAIIx	Phase_I	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	24	3297	+			944					C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	c.2928A>G	CCDS33515.1																																																																																				0.333	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			8	12	0	0	0	1	0	8	12					G	17250147	A	G	17250147	2	3	49	1	0	0	0	0	0	0	0	1	17071	98	4	4		4	USP25	21	17250147	Silent	SNP	A	TCGA-ND-A4WF-01A-11D-A28R-08		17250147	30879748	67	9264										
KRTAP20-2	337976	broad.mit.edu	37	chr21	32007616	32007616	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	gcaactactatggtggtctgCgttatggctatggagtcctg	13	8	1	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr21:32007616C>T	ENST00000330798.2	+	1	62	c.34C>T	c.(34-36)Cgt>Tgt	p.R12C		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	12						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGGTGGTCTGCGTTATGGCTA	0.517																																						ENST00000330798.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						c.(34-36)Cgt>Tgt		keratin associated protein 20-2							188	153	165					21																	32007616		2203	4300	6503	SO:0001583	missense	337976					intermediate filament		g.chr21:32007616C>T	AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"Keratin associated proteins"	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.34C>T	21.37:g.32007616C>T	ENSP00000330746:p.Arg12Cys		Somatic					p.R12C	NM_181616.1	NP_853647.1	WXS	Illumina GAIIx	Phase_I	Q3LI61	KR202_HUMAN			1	62	+			12						Missense_Mutation	SNP	ENST00000330798.2	37	c.34C>T	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	C	6.118	0.389983	0.11581	.	.	ENSG00000184032	ENST00000330798	T	0.09723	2.95	3.45	2.57	0.30868	.	0.000000	0.40908	U	0.000993	T	0.09730	0.0239	.	.	.	0.09310	N	1	P	0.50710	0.938	B	0.41202	0.35	T	0.15492	-1.0435	9	0.87932	D	0	.	8.9659	0.35877	0.0:0.2289:0.7711:0.0	.	12	Q3LI61	KR202_HUMAN	C	12	ENSP00000330746:R12C	ENSP00000330746:R12C	R	+	1	0	KRTAP20-2	30929487	0.000000	0.05858	0.007000	0.13788	0.012000	0.07955	0.216000	0.17585	0.802000	0.34089	-0.128000	0.14901	CGT		0.517	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3			45	55	0	0	0	1	0	45	55					T	32007616	C	T	32007616	3	4	49	1	0	0	0	0	1	0	0	0	8546	768	27	1	36	1	KRTAP20-2	21	32007616	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	14757469	32007616	16122279	68	9265										
CNKSR2	22866	broad.mit.edu	37	chrX	21670532	21670532	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	acctcgaccttttcttggatAtctgtcaaaataccacctca	4	13	4	0	rs373711438		TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:21670532A>G	ENST00000379510.3	+	22	3034	c.2998A>G	c.(2998-3000)Atc>Gtc	p.I1000V	CNKSR2_ENST00000425654.2_Missense_Mutation_p.I970V	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	1000					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TTTCTTGGATATCTGTCAAAA	0.398																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2908-2910)Atc>Gtc		connector enhancer of kinase suppressor of Ras 2		A	VAL/ILE,VAL/ILE	2,3833		0,1,1,1631,570	173	144	154		2908,2998	5.8	1	X		154	0,6728		0,0,0,2428,1872	no	missense,missense	CNKSR2	NM_001168647.1,NM_014927.3	29,29	0,1,1,4059,2442	GG,GA,G,AA,A		0.0,0.0522,0.0189	benign,benign	970/1005,1000/1035	21670532	2,10561	2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21670532A>G	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2998A>G	X.37:g.21670532A>G	ENSP00000368824:p.Ile1000Val		Somatic				CNKSR2_ENST00000379510.3_Missense_Mutation_p.I1000V	p.I970V	NM_001168647.1	NP_001162118.1	WXS	Illumina GAIIx	Phase_I	Q8WXI2	CNKR2_HUMAN			21	3388	+			1000					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.2908A>G	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.718751	0.30503	5.22E-4	0.0	ENSG00000149970	ENST00000425654;ENST00000379510	T;T	0.19938	2.11;2.14	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.23171	0.0560	L	0.49350	1.555	0.80722	D	1	B;B	0.18013	0.025;0.025	B;B	0.21708	0.036;0.036	T	0.02173	-1.1201	10	0.33141	T	0.24	-0.8204	15.0965	0.72238	1.0:0.0:0.0:0.0	.	970;1000	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	V	970;1000	ENSP00000397906:I970V;ENSP00000368824:I1000V	ENSP00000368824:I1000V	I	+	1	0	CNKSR2	21580453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.723000	0.61965	1.948000	0.56530	0.441000	0.28932	ATC		0.398	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		40	31	0	0	0	1	0	40	31					G	21670532	A	G	21670532	3	3	49	1	0	0	0	0	1	0	0	0	3609	449	16	4	3093	4	CNKSR2	23	21670532	Missense_Mutation	SNP	A	TCGA-ND-A4WF-01A-11D-A28R-08		21670532	133600028	69	9266										
ZFX	7543	broad.mit.edu	37	chrX	24225888	24225888	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	atcatggagttgaactgcttGatcagaacagcagtattcgt	10	7	2	3			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:24225888G>A	ENST00000379177.1	+	8	1283	c.856G>A	c.(856-858)Gat>Aat	p.D286N	ZFX_ENST00000539115.1_Missense_Mutation_p.D57N|ZFX_ENST00000304543.5_Missense_Mutation_p.D286N|ZFX_ENST00000540034.1_Missense_Mutation_p.D325N|ZFX_ENST00000338565.3_Missense_Mutation_p.D236N|ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000379188.3_Missense_Mutation_p.D286N	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	286					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						TGAACTGCTTGATCAGAACAG	0.408																																					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.(856-858)Gat>Aat		zinc finger protein, X-linked							242	194	210					X																	24225888		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:24225888G>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.856G>A	X.37:g.24225888G>A	ENSP00000368475:p.Asp286Asn		Somatic				ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000540034.1_Missense_Mutation_p.D325N|ZFX_ENST00000304543.5_Missense_Mutation_p.D286N|ZFX_ENST00000338565.3_Missense_Mutation_p.D236N|ZFX_ENST00000539115.1_Missense_Mutation_p.D57N|ZFX_ENST00000379188.3_Missense_Mutation_p.D286N	p.D286N	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	WXS	Illumina GAIIx	Phase_I	P17010	ZFX_HUMAN			8	1283	+			286					B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.856G>A	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772610	0.69992	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565;ENST00000545937	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.62	5.62	0.85841	Transcriptional activator, Zfx / Zfy domain (1);	0.076785	0.53938	D	0.000058	T	0.47544	0.1451	M	0.68593	2.085	0.43959	D	0.996631	B;B;B	0.29188	0.022;0.003;0.236	B;B;B	0.28784	0.065;0.009;0.094	T	0.48969	-0.8987	10	0.54805	T	0.06	-19.1525	13.1425	0.59442	0.078:0.0:0.922:0.0	.	325;286;290	B9EG97;P17010;Q59EB9	.;ZFX_HUMAN;.	N	57;286;55;286;286;325;236;81	ENSP00000438233:D57N;ENSP00000368486:D286N;ENSP00000368475:D286N;ENSP00000304985:D286N;ENSP00000441382:D325N;ENSP00000343384:D236N	ENSP00000304985:D286N	D	+	1	0	ZFX	24135809	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.100000	0.71473	2.501000	0.84356	0.594000	0.82650	GAT		0.408	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		28	65	0	0	0	1	0	28	65					A	24225888	G	A	24225888	3	1	49	1	0	0	0	0	1	0	0	0	17676	1290	45	3	870	3	ZFX	23	24225888	Missense_Mutation	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08	2555356	24225888	131044672	70	9267										
CXorf59	286464	broad.mit.edu	37	chrX	36091420	36091420	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	taaatgcagcacagacctggTtcagtctctttggctggcct	10	11	2	1			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:36091420T>G	ENST00000313548.4	+	4	541	c.355T>G	c.(355-357)Ttc>Gtc	p.F119V		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	119						integral component of membrane (GO:0016021)											ACAGACCTGGTTCAGTCTCTT	0.403																																						ENST00000378660.1																			0											c.(355-357)Ttc>Gtc		calponin homology domain containing 2							118	104	109					X																	36091420		2202	4300	6502	SO:0001583	missense	286464							g.chrX:36091420T>G	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.355T>G	X.37:g.36091420T>G	ENSP00000324767:p.Phe119Val		Somatic				CHDC2_ENST00000313548.4_Missense_Mutation_p.F119V	p.F119V			WXS	Illumina GAIIx	Phase_I					4	543	+									Missense_Mutation	SNP	ENST00000313548.4	37	c.355T>G	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.856362	0.51376	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	4.96	4.96	0.65561	.	0.000000	0.52532	D	0.000069	T	0.50667	0.1629	L	0.34521	1.04	0.24417	N	0.99464	D	0.89917	1.0	D	0.77004	0.989	T	0.42982	-0.9419	9	0.87932	D	0	-10.8081	10.0456	0.42184	0.0:0.0:0.0:1.0	.	119	Q8N9S7	CX059_HUMAN	V	119	.	ENSP00000324767:F119V	F	+	1	0	CXorf59	36001341	1.000000	0.71417	0.999000	0.59377	0.403000	0.30841	5.462000	0.66707	1.635000	0.50512	0.430000	0.28490	TTC		0.403	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		35	41	0	0	0	1	0	35	41					G	36091420	T	G	36091420	3	3	49	1	0	0	0	0	1	0	0	0	4117	1725	60	4	365	4	CXorf59	23	36091420	Missense_Mutation	SNP	T	TCGA-ND-A4WF-01A-11D-A28R-08	11865532	36091420	119179140	71	9268										
CYSLTR1	10800	broad.mit.edu	37	chrX	77528817	77528817	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	aatccaaatacctacacacaCaaacctggcttttttctgtg	4	12	1	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:77528817C>A	ENST00000373304.3	-	3	719	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L		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	143					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)	CCTACACACACAAACCTGGCT	0.373																																						ENST00000373304.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(427-429)Gtg>Ttg		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)						66	59	62					X																	77528817		2203	4297	6500	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77528817C>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.427G>T	X.37:g.77528817C>A	ENSP00000362401:p.Val143Leu		Somatic					p.V143L	NM_006639.2	NP_006630.1	WXS	Illumina GAIIx	Phase_I	Q9Y271	CLTR1_HUMAN			3	719	-			143					B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	c.427G>T	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	c	9.010	0.982305	0.18889	.	.	ENSG00000173198	ENST00000373304	T	0.34275	1.37	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.136482	0.48767	D	0.000163	T	0.30386	0.0763	L	0.41236	1.265	0.42308	D	0.992204	B	0.25235	0.121	B	0.30105	0.111	T	0.08086	-1.0739	10	0.18276	T	0.48	.	13.3425	0.60553	0.0:1.0:0.0:0.0	.	143	Q9Y271	CLTR1_HUMAN	L	143	ENSP00000362401:V143L	ENSP00000362401:V143L	V	-	1	0	CYSLTR1	77415473	1.000000	0.71417	0.894000	0.35097	0.987000	0.75469	5.894000	0.69806	1.705000	0.51264	0.452000	0.29995	GTG		0.373	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			5	13	1	0	0.184627	1	0.186337	5	13					A	77528817	C	A	77528817	3	1	49	1	0	0	0	0	1	0	0	0	4203	478	17	5	590	5	CYSLTR1	23	77528817	Missense_Mutation	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	41437397	77528817	77741743	72	9269										
KLHL4	56062	broad.mit.edu	37	chrX	86869493	86869493	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	aatgtttactaatgatgtgcTtgaagccaaacaagaagagg	10	5	0	4			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:86869493T>A	ENST00000373119.4	+	3	792	c.647T>A	c.(646-648)cTt>cAt	p.L216H	KLHL4_ENST00000373114.4_Missense_Mutation_p.L216H	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	216	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					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						AATGATGTGCTTGAAGCCAAA	0.378																																						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.(646-648)cTt>cAt		kelch-like family member 4							175	134	148					X																	86869493		2203	4300	6503	SO:0001583	missense	0					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86869493T>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.647T>A	X.37:g.86869493T>A	ENSP00000362211:p.Leu216His		Somatic				KLHL4_ENST00000373114.4_Missense_Mutation_p.L216H	p.L216H	NM_019117.4	NP_061990.2	WXS	Illumina GAIIx	Phase_I	Q9C0H6	KLHL4_HUMAN			3	792	+			216			BTB.		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.647T>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173225	0.57584	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.67345	-0.26;-0.26	4.71	2.06	0.26882	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.295249	0.30085	N	0.010444	T	0.67420	0.2891	L	0.39633	1.23	0.29036	N	0.885407	P;P	0.51147	0.916;0.942	P;P	0.57009	0.811;0.712	T	0.62661	-0.6807	10	0.45353	T	0.12	.	10.6267	0.45512	0.0:0.0:0.5975:0.4025	.	216;216	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	H	216	ENSP00000362211:L216H;ENSP00000362206:L216H	ENSP00000362206:L216H	L	+	2	0	KLHL4	86756149	1.000000	0.71417	0.959000	0.39883	0.994000	0.84299	4.365000	0.59486	0.476000	0.27440	0.356000	0.21956	CTT		0.378	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			16	18	0	0	0	1	0	16	18					A	86869493	T	A	86869493	3	1	49	1	0	0	0	0	1	0	0	0	8400	1609	56	4	657	4	KLHL4	23	86869493	Missense_Mutation	SNP	T	TCGA-ND-A4WF-01A-11D-A28R-08	9340676	86869493	68401067	73	9270										
DIAPH2	1730	broad.mit.edu	37	chrX	95940099	95940099	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	gcgtcgggagcgggaggcggCagcgaggaacccggtggggg	24	9	0	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:95940099C>A	ENST00000324765.8	+	1	389	c.42C>A	c.(40-42)ggC>ggA	p.G14G	DIAPH2_ENST00000373049.4_Silent_p.G14G|DIAPH2_ENST00000373054.4_Silent_p.G14G|DIAPH2_ENST00000373061.3_Silent_p.G14G|DIAPH2_ENST00000355827.4_Silent_p.G14G			O60879	DIAP2_HUMAN	diaphanous-related formin 2	14					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CGGGAGGCGGCAGCGAGGAAC	0.647																																						ENST00000324765.8																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(40-42)ggC>ggA		diaphanous-related formin 2							13	17	16					X																	95940099		2084	4123	6207	SO:0001819	synonymous_variant	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:95940099C>A	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.42C>A	X.37:g.95940099C>A			Somatic				DIAPH2_ENST00000373054.4_Silent_p.G14G|DIAPH2_ENST00000373061.3_Silent_p.G14G|DIAPH2_ENST00000355827.4_Silent_p.G14G|DIAPH2_ENST00000373049.4_Silent_p.G14G	p.G14G			WXS	Illumina GAIIx	Phase_I	O60879	DIAP2_HUMAN			1	389	+			14					A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Silent	SNP	ENST00000324765.8	37	c.42C>A	CCDS14467.1																																																																																				0.647	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		5	11	1	0	0.000602214	1	0.000631167	5	11					A	95940099	C	A	95940099	2	1	49	1	0	0	0	0	0	0	0	1	4521	697	25	5		5	DIAPH2	23	95940099	Silent	SNP	C	TCGA-ND-A4WF-01A-11D-A28R-08	9070606	95940099	59330461	74	9271										
GRIA3	2892	broad.mit.edu	37	chrX	122616806	122616806	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	tcacaaagaacacccaaaacTttaagcctgctcctgccacc	4	16	1	1			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:122616806T>C	ENST00000371251.1	+	15	2648	c.2596T>C	c.(2596-2598)Ttt>Ctt	p.F866L	GRIA3_ENST00000371256.5_Missense_Mutation_p.F866L|GRIA3_ENST00000264357.5_Missense_Mutation_p.F866L|GRIA3_ENST00000542149.1_3'UTR			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	866					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)	CACCCAAAACTTTAAGCCTGC	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.(2596-2598)Ttt>Ctt		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						124	102	109					X																	122616806		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:122616806T>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.2596T>C	X.37:g.122616806T>C	ENSP00000360297:p.Phe866Leu		Somatic				GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000371256.5_Missense_Mutation_p.F866L|GRIA3_ENST00000371251.1_Missense_Mutation_p.F866L	p.F866L	NM_000828.4	NP_000819.3	WXS	Illumina GAIIx	Phase_I	P42263	GRIA3_HUMAN			15	2888	+			866					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.2596T>C	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.453509	0.43531	.	.	ENSG00000125675	ENST00000264357;ENST00000371256;ENST00000371251	T;T;T	0.11169	2.8;2.8;2.8	5.81	5.81	0.92471	.	0.136211	0.64402	D	0.000001	T	0.09730	0.0239	L	0.27053	0.805	0.80722	D	1	B;B	0.22683	0.043;0.073	B;B	0.30572	0.034;0.117	T	0.25882	-1.0119	10	0.13853	T	0.58	.	14.1842	0.65595	0.0:0.0:0.0:1.0	.	866;866	P42263;P42263-2	GRIA3_HUMAN;.	L	866	ENSP00000264357:F866L;ENSP00000360302:F866L;ENSP00000360297:F866L	ENSP00000264357:F866L	F	+	1	0	GRIA3	122444487	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.154000	0.64894	1.947000	0.56498	0.486000	0.48141	TTT		0.468	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		27	66	0	0	0	1	0	27	66					C	122616806	T	C	122616806	3	2	49	1	0	0	0	0	1	0	0	0	6778	1609	56	4	2773	4	GRIA3	23	122616806	Missense_Mutation	SNP	T	TCGA-ND-A4WF-01A-11D-A28R-08	26676707	122616806	32653754	75	9272										
MAGEC2	51438	broad.mit.edu	37	chrX	141291465	141291465	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	ctccatgaaaaagaggagcaGcaggagctcagaggactctg	13	9	2	3			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:141291465G>C	ENST00000247452.3	-	3	656	c.309C>G	c.(307-309)tgC>tgG	p.C103W		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	103	Ser-rich.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGGAGCAGCAGGAGCTCA	0.562										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(307-309)tgC>tgG		melanoma antigen family C, 2							73	69	70					X																	141291465		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291465G>C	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.309C>G	X.37:g.141291465G>C	ENSP00000354660:p.Cys103Trp	HNSCC(46;0.14)	Somatic					p.C103W	NM_016249.3	NP_057333.1	WXS	Illumina GAIIx	Phase_I	Q9UBF1	MAGC2_HUMAN			3	656	-	Acute lymphoblastic leukemia(192;6.56e-05)		103			Ser-rich.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.309C>G	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	5.917	0.353174	0.11182	.	.	ENSG00000046774	ENST00000247452	T	0.04275	3.66	1.16	0.2	0.15181	Melanoma associated antigen, MAGE, N-terminal (1);	1.205610	0.06722	U	0.775049	T	0.06554	0.0168	N	0.24115	0.695	0.09310	N	1	D	0.63046	0.992	P	0.52217	0.693	T	0.39354	-0.9618	10	0.52906	T	0.07	.	6.0932	0.20005	0.2219:0.0:0.7781:0.0	.	103	Q9UBF1	MAGC2_HUMAN	W	103	ENSP00000354660:C103W	ENSP00000354660:C103W	C	-	3	2	MAGEC2	141119131	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.055000	0.11807	-0.445000	0.07159	-1.679000	0.00737	TGC		0.562	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		48	28	0	0	0	1	0	48	28					C	141291465	G	C	141291465	3	2	49	1	0	0	0	0	1	0	0	0	9190	963	34	5	816	5	MAGEC2	23	141291465	Missense_Mutation	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08	18674659	141291465	13979095	76	9273										
SPANXN3	139067	broad.mit.edu	37	chrX	142605155	142605155	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	atcttacctcatcattttttTtgttattggattcacagggg	7	7	4	0			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:142605155T>C	ENST00000370503.2	-	1	148	c.65A>G	c.(64-66)aAa>aGa	p.K22R	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	22										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ATCATTTTTTTTGTTATTGGA	0.453																																						ENST00000370503.2																			0				endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14						c.(64-66)aAa>aGa		SPANX family, member N3							229	197	208					X																	142605155		2203	4300	6503	SO:0001583	missense	139067							g.chrX:142605155T>C		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 8"	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.65A>G	X.37:g.142605155T>C	ENSP00000359534:p.Lys22Arg		Somatic					p.K22R	NM_001009609.2	NP_001009609.1	WXS	Illumina GAIIx	Phase_I	Q5MJ09	SPXN3_HUMAN			1	148	-	Acute lymphoblastic leukemia(192;6.56e-05)		22					Q0ZNK4	Missense_Mutation	SNP	ENST00000370503.2	37	c.65A>G	CCDS35418.1	.	.	.	.	.	.	.	.	.	.	-	3.053	-0.194982	0.06259	.	.	ENSG00000189252	ENST00000370503	T	0.07327	3.2	2.31	-2.38	0.06622	.	.	.	.	.	T	0.04497	0.0123	N	0.22421	0.69	0.09310	N	1	B	0.33883	0.43	B	0.31869	0.137	T	0.43925	-0.9361	9	0.21014	T	0.42	.	6.0209	0.19628	0.0:0.4817:0.0:0.5183	.	22	Q5MJ09	SPXN3_HUMAN	R	22	ENSP00000359534:K22R	ENSP00000359534:K22R	K	-	2	0	SPANXN3	142432821	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.003000	0.12901	-0.563000	0.06078	-0.489000	0.04712	AAA		0.453	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		5	121	0	0	0	1	0	5	121					C	142605155	T	C	142605155	3	2	49	1	0	0	0	0	1	0	0	0	15007	1841	64	4	368	4	SPANXN3	23	142605155	Missense_Mutation	SNP	T	TCGA-ND-A4WF-01A-11D-A28R-08	1313690	142605155	12665405	77	9274										
UBL4A	8266	broad.mit.edu	37	chrX	153714147	153714147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0512820512820513	4	1	0.570675105485232	0.622554660529344	0.555251453985631	0.523809523809524	1	0	ggaccctgctggcatctgccGcactgaagtggcgggccaag	15	13	1	1			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:153714147G>A	ENST00000369660.4	-	3	411	c.326C>T	c.(325-327)gCg>gTg	p.A109V	UBL4A_ENST00000369653.4_Missense_Mutation_p.A109V|UBL4A_ENST00000477777.1_5'UTR	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	109					cellular protein modification process (GO:0006464)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)	small conjugating protein ligase activity (GO:0019787)	p.A109V(1)		endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCATCTGCCGCACTGAAGTG	0.622																																					Esophageal Squamous(74;88 1215 11149 34177 46777)	ENST00000369660.4																			1	Substitution - Missense(1)	p.A109V(1)	endometrium(1)	endometrium(5)|lung(1)|urinary_tract(1)	7						c.(325-327)gCg>gTg		ubiquitin-like 4A							86	91	89					X																	153714147		2203	4300	6503	SO:0001583	missense	8266				protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity	g.chrX:153714147G>A	J03589	CCDS14754.1	Xq28	2010-08-05	2005-09-27	2005-09-27	ENSG00000102178	ENSG00000102178			12505	protein-coding gene	gene with protein product		312070	"ubiquitin-like 4"	UBL4		2829204, 16872915	Standard	NM_014235		Approved	GDX, DXS254E, GET5, MDY2, TMA24	uc004flo.3	P11441	OTTHUMG00000013370	ENST00000369660.4:c.326C>T	X.37:g.153714147G>A	ENSP00000358674:p.Ala109Val		Somatic				UBL4A_ENST00000369653.4_Missense_Mutation_p.A109V|UBL4A_ENST00000477777.1_5'UTR	p.A109V	NM_014235.3	NP_055050.1	WXS	Illumina GAIIx	Phase_I	P11441	UBL4A_HUMAN			3	411	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		109					Q5HY80	Missense_Mutation	SNP	ENST00000369660.4	37	c.326C>T	CCDS14754.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383184	0.42207	.	.	ENSG00000102178	ENST00000369660;ENST00000369653	T;T	0.46063	0.94;0.88	4.76	3.61	0.41365	.	0.379891	0.29046	N	0.013318	T	0.27419	0.0673	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15235	-1.0444	10	0.40728	T	0.16	-6.0642	4.5941	0.12322	0.1559:0.204:0.6401:0.0	.	109	P11441	UBL4A_HUMAN	V	109	ENSP00000358674:A109V;ENSP00000358667:A109V	ENSP00000358667:A109V	A	-	2	0	UBL4A	153367341	0.023000	0.18921	0.003000	0.11579	0.976000	0.68499	1.836000	0.39191	0.839000	0.34971	0.529000	0.55759	GCG		0.622	UBL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037238.2	NM_014235		62	111	0	0	0	1	0	62	111					A	153714147	G	A	153714147	3	1	49	1	0	0	0	0	1	0	0	0	16902	1087	38	1	155	1	UBL4A	23	153714147	Missense_Mutation	SNP	G	TCGA-ND-A4WF-01A-11D-A28R-08	11108992	153714147	1556413	78	9275										
ATP13A2	23400	broad.mit.edu	37	chr1	17320326	17320326	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	agccgtcctcagtgagggtgCccgtctgtgggagacaggtg	17	10	2	2			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:17320326C>A	ENST00000326735.8	-	16	1580	c.1547G>T	c.(1546-1548)gGc>gTc	p.G516V	ATP13A2_ENST00000341676.5_Missense_Mutation_p.G511V|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_5'Flank|ATP13A2_ENST00000452699.1_Missense_Mutation_p.G511V			Q9NQ11	AT132_HUMAN	ATPase type 13A2	516					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGTGAGGGTGCCCGTCTGTGG	0.692																																						ENST00000452699.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1531-1533)gGc>gTc		ATPase type 13A2							12	8	10					1																	17320326		2149	4229	6378	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17320326C>A	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1547G>T	1.37:g.17320326C>A	ENSP00000327214:p.Gly516Val		Somatic				RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.G511V|ATP13A2_ENST00000326735.8_Missense_Mutation_p.G516V	p.G511V	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	WXS	Illumina GAIIx	Phase_I	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	16	1721	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	516					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.1532G>T	CCDS175.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796431	0.90453	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699	D;D;D	0.82167	-1.58;-1.58;-1.58	5.63	5.63	0.86233	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94496	0.8228	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95964	0.8964	10	0.87932	D	0	-38.8788	18.2179	0.89893	0.0:1.0:0.0:0.0	.	511;511;516	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	V	516;511;511	ENSP00000327214:G516V;ENSP00000341115:G511V;ENSP00000413307:G511V	ENSP00000327214:G516V	G	-	2	0	ATP13A2	17192913	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.867000	0.75511	2.656000	0.90262	0.491000	0.48974	GGC		0.692	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		3	9	1	0	0.004672	1	0.00475255	3	9					A	17320326	C	A	17320326	3	1	50	1	0	0	0	0	1	0	0	0	1124	739	26	5	2287	5	ATP13A2	1	17320326	Missense_Mutation	SNP	C	TCGA-NF-A4WU-01A-11D-A28R-08		17320326	231930295	1	9276										
KLHDC7A	127707	broad.mit.edu	37	chr1	18809452	18809452	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	caggagcagcgctggtgggcCggccccaccgggggcagcaa	18	14	0	0			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:18809452C>T	ENST00000400664.1	+	1	2029	c.1977C>T	c.(1975-1977)gcC>gcT	p.A659A		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	659						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)		GCTGGTGGGCCGGCCCCACCG	0.682																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1975-1977)gcC>gcT		kelch domain containing 7A							23	26	25					1																	18809452		2202	4298	6500	SO:0001819	synonymous_variant	127707					integral to membrane		g.chr1:18809452C>T	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1977C>T	1.37:g.18809452C>T			Somatic					p.A659A	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	2029	+		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)	659					Q8N8W6	Silent	SNP	ENST00000400664.1	37	c.1977C>T	CCDS185.2																																																																																				0.682	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		18	21	0	0	0	1	0	18	21					T	18809452	C	T	18809452	2	4	50	1	0	0	0	0	0	0	0	1	8369	639	23	1		1	KLHDC7A	1	18809452	Silent	SNP	C	TCGA-NF-A4WU-01A-11D-A28R-08	1489126	18809452	230441169	2	9277										
KCNA3	3738	broad.mit.edu	37	chr1	111216299	111216299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	gcagccccttggagtggcgcGacagcttgaagatgcggaag	16	10	0	2			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:111216299G>A	ENST00000369769.2	-	1	1356	c.1133C>T	c.(1132-1134)tCg>tTg	p.S378L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	378					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)	GGAGTGGCGCGACAGCTTGAA	0.592																																						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.(1132-1134)tCg>tTg		potassium voltage-gated channel, shaker-related subfamily, member 3							108	107	107					1																	111216299		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216299G>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.1133C>T	1.37:g.111216299G>A	ENSP00000358784:p.Ser378Leu		Somatic					p.S378L	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	1356	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	378					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.1133C>T	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531187	0.85706	.	.	ENSG00000177272	ENST00000369769	D	0.98329	-4.87	5.47	5.47	0.80525	Ion transport (1);	0.065309	0.64402	U	0.000005	D	0.98792	0.9593	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99902	1.1166	10	0.87932	D	0	.	19.3206	0.94237	0.0:0.0:1.0:0.0	.	378	P22001	KCNA3_HUMAN	L	378	ENSP00000358784:S378L	ENSP00000358784:S378L	S	-	2	0	KCNA3	111017822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.864000	0.99589	2.573000	0.86826	0.655000	0.94253	TCG		0.592	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		68	144	0	0	0	1	0	68	144					A	111216299	G	A	111216299	3	1	50	1	0	0	0	0	1	0	0	0	8013	1059	37	1	598	1	KCNA3	1	111216299	Missense_Mutation	SNP	G	TCGA-NF-A4WU-01A-11D-A28R-08	92406847	111216299	138034322	3	9278										
RPTN	126638	broad.mit.edu	37	chr1	152128023	152128023	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	accatagtggaaactctggcCttgtctgtctgtctgaccat	9	11	4	1			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:152128023C>A	ENST00000316073.3	-	3	1616	c.1552G>T	c.(1552-1554)Ggc>Tgc	p.G518C		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	518	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						AAACTCTGGCCTTGTCTGTCT	0.498																																						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.(1552-1554)Ggc>Tgc		repetin							816	711	743					1																	152128023		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128023C>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.1552G>T	1.37:g.152128023C>A	ENSP00000317895:p.Gly518Cys		Somatic					p.G518C	NM_001122965.1	NP_001116437.1	WXS	Illumina GAIIx	Phase_I	Q6XPR3	RPTN_HUMAN			3	1616	-			518			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1552G>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104754	0.56291	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.16897	2.31	5.05	2.07	0.26955	.	0.241071	0.21161	U	0.079150	T	0.26666	0.0652	M	0.87269	2.87	0.09310	N	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.08576	-1.0715	10	0.72032	D	0.01	-6.3588	6.5582	0.22471	0.0:0.6792:0.1488:0.172	.	518	Q6XPR3	RPTN_HUMAN	C	518;173	ENSP00000317895:G518C	ENSP00000317895:G518C	G	-	1	0	RPTN	150394647	0.000000	0.05858	0.083000	0.20561	0.010000	0.07245	0.019000	0.13444	0.140000	0.18849	0.478000	0.44815	GGC		0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		379	665	1	0	1.76114e-179	1	2.0374e-179	379	665					A	152128023	C	A	152128023	3	1	50	1	0	0	0	0	1	0	0	0	13679	681	24	5	806	5	RPTN	1	152128023	Missense_Mutation	SNP	C	TCGA-NF-A4WU-01A-11D-A28R-08	40911724	152128023	97122598	4	9279										
PAPPA2	60676	broad.mit.edu	37	chr1	176738843	176738843	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	cccgtctttggtgaactatgCaaacttctcctgctcagagg	9	12	3	2			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:176738843C>A	ENST00000367662.3	+	16	5588	c.4424C>A	c.(4423-4425)gCa>gAa	p.A1475E		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1475	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			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						GTGAACTATGCAAACTTCTCC	0.517																																						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.(4423-4425)gCa>gAa		pappalysin 2							136	131	132					1																	176738843		1947	4154	6101	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176738843C>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4424C>A	1.37:g.176738843C>A	ENSP00000356634:p.Ala1475Glu		Somatic					p.A1475E	NM_020318.2	NP_064714.2	WXS	Illumina GAIIx	Phase_I	Q9BXP8	PAPP2_HUMAN			16	5588	+			1475			Sushi 2.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4424C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.356046	0.82243	.	.	ENSG00000116183	ENST00000367662	T	0.52754	0.65	6.17	6.17	0.99709	Complement control module (2);Sushi/SCR/CCP (2);	0.000000	0.85682	D	0.000000	T	0.73999	0.3659	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75258	-0.3381	10	0.87932	D	0	-17.6206	20.4745	0.99168	0.0:1.0:0.0:0.0	.	1475	Q9BXP8	PAPP2_HUMAN	E	1475	ENSP00000356634:A1475E	ENSP00000356634:A1475E	A	+	2	0	PAPPA2	175005466	1.000000	0.71417	0.364000	0.25888	0.282000	0.26991	7.155000	0.77445	2.941000	0.99782	0.655000	0.94253	GCA		0.517	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			38	73	1	0	2.05212e-20	1	2.32837e-20	38	73					A	176738843	C	A	176738843	3	1	50	1	0	0	0	0	1	0	0	0	11442	710	25	5	4535	5	PAPPA2	1	176738843	Missense_Mutation	SNP	C	TCGA-NF-A4WU-01A-11D-A28R-08	24610820	176738843	72511778	5	9280										
OR1C1	26188	broad.mit.edu	37	chr1	247921040	247921042	+	In_Frame_Del	DEL	GGA	GGA	-													0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	gaggtgatcttcagaacagtGgagaagataagtccataaga							TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:247921040_247921042delGGA	ENST00000408896.2	-	1	940_942	c.667_669delTCC	c.(667-669)tccdel	p.S223del		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	223					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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCAGAACAGTGGAGAAGATAAGT	0.493																																						ENST00000408896.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(667-669)del		olfactory receptor, family 1, subfamily C, member 1																																				SO:0001651	inframe_deletion	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921040_247921042delGGA	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"GPCR / Class A : Olfactory receptors"	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.667_669delTCC	1.37:g.247921040_247921042delGGA	ENSP00000386138:p.Ser223del		Somatic					p.S223del	NM_012353.2	NP_036485.2	WXS	Illumina GAIIx	Phase_I	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	940_942	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	223					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	In_Frame_Del	DEL	ENST00000408896.2	37	c.667_669delTCC	CCDS41481.1																																																																																				0.493	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			53	52						53	52	---	---	---	---	-	247921042	GGA	-	247921040	7	5	50	1	0	1	0	1	0	0	0	0	10961	1335	47	0	277	0	OR1C1	1	247921040	In_Frame_Del	DEL	GGA	TCGA-NF-A4WU-01A-11D-A28R-08	71182197	247921040	1329581	6	9281										
HECW2	57520	broad.mit.edu	37	chr2	197184313	197184313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	tggacctctcagagcaggtcGctgtccccggcctggagtgg	15	13	1	1			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr2:197184313G>A	ENST00000260983.3	-	9	1483	c.1301C>T	c.(1300-1302)gCg>gTg	p.A434V	HECW2_ENST00000409111.1_Missense_Mutation_p.A78V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	434					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						AGAGCAGGTCGCTGTCCCCGG	0.502																																						ENST00000260983.2																			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.(1300-1302)gCg>gTg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							58	59	59					2																	197184313		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197184313G>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.1301C>T	2.37:g.197184313G>A	ENSP00000260983:p.Ala434Val		Somatic				HECW2_ENST00000409111.1_Missense_Mutation_p.A78V	p.A434V	NM_020760.1	NP_065811.1	WXS	Illumina GAIIx	Phase_I	Q9P2P5	HECW2_HUMAN			9	1483	-			434					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1301C>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	5.349	0.249640	0.10130	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.32023	1.47;1.47	5.42	3.61	0.41365	.	0.963224	0.08672	N	0.910767	T	0.20007	0.0481	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.22871	-1.0204	10	0.38643	T	0.18	.	9.553	0.39321	0.0744:0.1422:0.7835:0.0	.	434	Q9P2P5	HECW2_HUMAN	V	78;434	ENSP00000386775:A78V;ENSP00000260983:A434V	ENSP00000260983:A434V	A	-	2	0	HECW2	196892558	0.472000	0.25870	0.003000	0.11579	0.000000	0.00434	3.647000	0.54403	0.841000	0.35020	-0.182000	0.12963	GCG		0.502	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		26	65	0	0	0	1	0	26	65					A	197184313	G	A	197184313	3	1	50	1	0	0	0	0	1	0	0	0	7052	1087	38	1	3501	1	HECW2	2	197184313	Missense_Mutation	SNP	G	TCGA-NF-A4WU-01A-11D-A28R-08		197184313	46015060	7	9282										
PSMD2	5708	broad.mit.edu	37	chr3	184019846	184019846	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	atgcatatgcaaaggtctgcCtttatctcaccaggtgagtg	10	9	2	1			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr3:184019846C>G	ENST00000310118.4	+	5	1249	c.691C>G	c.(691-693)Ctt>Gtt	p.L231V	PSMD2_ENST00000435761.1_Missense_Mutation_p.L72V|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.L101V	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	231					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|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)	AAAGGTCTGCCTTTATCTCAC	0.507																																					Colon(24;313 636 6917 9932 15554)	ENST00000310118.4																			0				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.(691-693)Ctt>Gtt		proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	Bortezomib(DB00188)						113	100	104					3																	184019846		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.chr3:184019846C>G	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.691C>G	3.37:g.184019846C>G	ENSP00000310129:p.Leu231Val		Somatic				EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.L101V|PSMD2_ENST00000435761.1_Missense_Mutation_p.L72V	p.L231V	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)		5	1249	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		231					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	c.691C>G	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943338	0.73672	.	.	ENSG00000175166	ENST00000310118;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.25085	1.82;1.82;1.82	4.99	4.99	0.66335	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61739	0.2371	M	0.92459	3.31	0.80722	D	1	D;D	0.63880	0.993;0.993	P;D	0.70016	0.901;0.967	T	0.72481	-0.4280	10	0.87932	D	0	-11.5101	18.4724	0.90779	0.0:1.0:0.0:0.0	.	72;231	E9PCS3;Q13200	.;PSMD2_HUMAN	V	231;223;72;101	ENSP00000310129:L231V;ENSP00000402618:L72V;ENSP00000416028:L101V	ENSP00000310129:L231V	L	+	1	0	PSMD2	185502540	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.875000	0.69660	2.586000	0.87340	0.603000	0.83216	CTT		0.507	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		33	54	0	0	0	1	0	33	54					G	184019846	C	G	184019846	3	3	50	1	0	0	0	0	1	0	0	0	12710	681	24	5	709	5	PSMD2	3	184019846	Missense_Mutation	SNP	C	TCGA-NF-A4WU-01A-11D-A28R-08		184019846	14002584	8	9283										
G3BP2	9908	broad.mit.edu	37	chr4	76571563	76571563	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	aactggttcagagtcatcaaAaaccacaaaaccaaaatttg	5	9	3	1			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr4:76571563A>G	ENST00000359707.4	-	11	1920	c.1135T>C	c.(1135-1137)Ttt>Ctt	p.F379L	G3BP2_ENST00000395719.3_Missense_Mutation_p.F379L|G3BP2_ENST00000357854.3_Missense_Mutation_p.F346L	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	379	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)			GAGTCATCAAAAACCACAAAA	0.328																																						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.(1135-1137)Ttt>Ctt		GTPase activating protein (SH3 domain) binding protein 2							120	131	127					4																	76571563		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.chr4:76571563A>G	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.1135T>C	4.37:g.76571563A>G	ENSP00000352738:p.Phe379Leu		Somatic				G3BP2_ENST00000395719.3_Missense_Mutation_p.F379L|G3BP2_ENST00000357854.3_Missense_Mutation_p.F346L	p.F379L	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	1920	-			379			RRM.		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.1135T>C	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	A	36	5.658359	0.96734	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	D;D;D	0.86164	-2.08;-2.08;-2.08	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.93265	0.7854	M	0.77103	2.36	0.80722	D	1	D;P	0.56035	0.974;0.774	D;P	0.67725	0.953;0.677	D	0.93711	0.7024	10	0.72032	D	0.01	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	346;379	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	L	379;379;346	ENSP00000379069:F379L;ENSP00000352738:F379L;ENSP00000350518:F346L	ENSP00000350518:F346L	F	-	1	0	G3BP2	76790587	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.949000	0.93012	2.371000	0.80710	0.533000	0.62120	TTT		0.328	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		19	137	0	0	0	1	0	19	137					G	76571563	A	G	76571563	3	3	50	1	0	0	0	0	1	0	0	0	6150	14	1	4	321	4	G3BP2	4	76571563	Missense_Mutation	SNP	A	TCGA-NF-A4WU-01A-11D-A28R-08		76571563	114582713	9	9284										
SLC6A3	6531	broad.mit.edu	37	chr5	1420693	1420693	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	actgtactcacagacgcctcGcagagccggtagaagtcaac	10	13	2	3			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr5:1420693G>A	ENST00000270349.9	-	6	1045	c.918C>T	c.(916-918)tgC>tgT	p.C306C	SLC6A3_ENST00000453492.2_Silent_p.C306C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	306					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)	CAGACGCCTCGCAGAGCCGGT	0.592																																						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.(916-918)tgC>tgT		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)						120	108	112					5																	1420693		2203	4300	6503	SO:0001819	synonymous_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1420693G>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.918C>T	5.37:g.1420693G>A			Somatic				SLC6A3_ENST00000453492.2_Silent_p.C306C	p.C306C	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)		6	1045	-			306					A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	c.918C>T	CCDS3863.1																																																																																				0.592	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		58	109	0	0	0	1	0	58	109					A	1420693	G	A	1420693	2	1	50	1	0	0	0	0	0	0	0	1	14700	1079	38	1		1	SLC6A3	5	1420693	Silent	SNP	G	TCGA-NF-A4WU-01A-11D-A28R-08		1420693	179494567	10	9285										
FAM173B	134145	broad.mit.edu	37	chr5	10227588	10227588	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	cagctggaaatgcatcgatgTacagggcctcttttcacggc	11	11	2	0			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr5:10227588T>G	ENST00000511437.1	-	5	679	c.667A>C	c.(667-669)Aca>Cca	p.T223P	FAM173B_ENST00000510052.1_5'Flank|FAM173B_ENST00000280330.8_Missense_Mutation_p.T59P|FAM173B_ENST00000510047.1_Missense_Mutation_p.T206P	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	223						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						TGCATCGATGTACAGGGCCTC	0.478																																						ENST00000280330.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						c.(175-177)Aca>Cca		family with sequence similarity 173, member B							113	111	112					5																	10227588		1948	4140	6088	SO:0001583	missense	134145					integral to membrane		g.chr5:10227588T>G		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.667A>C	5.37:g.10227588T>G	ENSP00000422338:p.Thr223Pro		Somatic				FAM173B_ENST00000511437.1_Missense_Mutation_p.T223P|FAM173B_ENST00000510047.1_Missense_Mutation_p.T206P	p.T59P			WXS	Illumina GAIIx	Phase_I	Q6P4H8	F173B_HUMAN			6	781	-			223					B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	37	c.175A>C	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.246441	0.22796	.	.	ENSG00000150756	ENST00000280330;ENST00000511437;ENST00000510047	T;T;T	0.15952	2.38;2.38;2.38	4.7	-8.62	0.00881	.	4.291010	0.00575	N	0.000309	T	0.06872	0.0175	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25676	-1.0125	10	0.40728	T	0.16	.	3.2527	0.06820	0.25:0.4527:0.1207:0.1766	.	206;223	E9PBZ4;Q6P4H8	.;F173B_HUMAN	P	59;223;206	ENSP00000280330:T59P;ENSP00000422338:T223P;ENSP00000420876:T206P	ENSP00000280330:T59P	T	-	1	0	FAM173B	10280588	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.213000	0.09305	-1.138000	0.02884	-0.274000	0.10170	ACA		0.478	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		8	53	0	0	0	1	0	8	53					G	10227588	T	G	10227588	3	3	50	1	0	0	0	0	1	0	0	0	5499	1638	57	4	38	4	FAM173B	5	10227588	Missense_Mutation	SNP	T	TCGA-NF-A4WU-01A-11D-A28R-08	8806895	10227588	170687672	11	9286										
HIST1H4C	8364	broad.mit.edu	37	chr6	26104424	26104424	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	gccaagcgcaaaactgtcacAgccatggatgtagtatatgc	10	10	1	0			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr6:26104424A>T	ENST00000377803.2	+	1	321	c.249A>T	c.(247-249)acA>acT	p.T83T		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	83					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)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AAACTGTCACAGCCATGGATG	0.483																																						ENST00000377803.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						c.(247-249)acA>acT		histone cluster 1, H4c							71	63	66					6																	26104424		2203	4300	6503	SO:0001819	synonymous_variant	8364				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26104424A>T	X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"Histones / Replication-dependent"	4787	protein-coding gene	gene with protein product		602827	"H4 histone family, member G", "histone 1, H4c"	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.249A>T	6.37:g.26104424A>T			Somatic					p.T83T	NM_003542.3	NP_003533.1	WXS	Illumina GAIIx	Phase_I	P62805	H4_HUMAN			1	321	+			83					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377803.2	37	c.249A>T	CCDS4583.1																																																																																				0.483	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040092.2	NM_003542		17	63	0	0	0	1	0	17	63					T	26104424	A	T	26104424	2	4	50	1	0	0	0	0	0	0	0	1	7176	175	7	4		4	HIST1H4C	6	26104424	Silent	SNP	A	TCGA-NF-A4WU-01A-11D-A28R-08		26104424	145010643	12	9287										
HIST1H1B	3009	broad.mit.edu	37	chr6	27834840	27834840	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	gcgggcttcttcgccttcttCggagtcttcttcactgcctt	9	14	5	0	rs139479440|rs545007006	byFrequency	TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr6:27834840C>A	ENST00000331442.3	-	1	519	c.468G>T	c.(466-468)ccG>ccT	p.P156P		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	156					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TCGCCTTCTTCGGAGTCTTCT	0.602																																						ENST00000331442.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(466-468)ccG>ccT		histone cluster 1, H1b							88	102	97					6																	27834840		2202	4299	6501	SO:0001819	synonymous_variant	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834840C>A	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.468G>T	6.37:g.27834840C>A			Somatic					p.P156P	NM_005322.2	NP_005313.1	WXS	Illumina GAIIx	Phase_I	P16401	H15_HUMAN			1	519	-			156					Q14529|Q3MJ42	Silent	SNP	ENST00000331442.3	37	c.468G>T	CCDS4635.1																																																																																				0.602	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		31	189	1	0	1.08312e-15	1	1.20574e-15	31	189					A	27834840	C	A	27834840	2	1	50	1	0	0	0	0	0	0	0	1	7132	871	31	2		2	HIST1H1B	6	27834840	Silent	SNP	C	TCGA-NF-A4WU-01A-11D-A28R-08	1730416	27834840	143280227	13	9288										
OR12D3	81797	broad.mit.edu	37	chr6	29343055	29343055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	aaactcattcattgtagtgaCattctccattgctctgggaa	7	9	4	1			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr6:29343055C>T	ENST00000396806.3	-	1	13	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	4						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						ATTGTAGTGACATTCTCCATT	0.328																																						ENST00000396806.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						c.(10-12)Gtc>Atc		olfactory receptor, family 12, subfamily D, member 3							32	36	34					6																	29343055		1495	2693	4188	SO:0001583	missense	81797				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29343055C>T		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.10G>A	6.37:g.29343055C>T	ENSP00000380023:p.Val4Ile		Somatic				OR5V1_ENST00000377154.1_Intron	p.V4I	NM_030959.2	NP_112221.1	WXS	Illumina GAIIx	Phase_I	Q9UGF7	O12D3_HUMAN			1	13	-			4					A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	c.10G>A	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	c	8.196	0.796981	0.16327	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.00576	6.45	4.34	-0.213	0.13165	.	.	.	.	.	T	0.00144	0.0004	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.14364	-1.0475	9	0.36615	T	0.2	-1.4052	7.328	0.26566	0.2573:0.2565:0.4862:0.0	.	4	Q9UGF7	O12D3_HUMAN	I	4	ENSP00000380023:V4I	ENSP00000366348:V4I	V	-	1	0	OR12D3	29451034	0.000000	0.05858	0.001000	0.08648	0.807000	0.45602	-1.900000	0.01599	0.046000	0.15833	0.431000	0.28591	GTC		0.328	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3			16	34	0	0	0	1	0	16	34					T	29343055	C	T	29343055	3	4	50	1	0	0	0	0	1	0	0	0	10941	478	17	3	944	3	OR12D3	6	29343055	Missense_Mutation	SNP	C	TCGA-NF-A4WU-01A-11D-A28R-08	1508215	29343055	141772012	14	9289										
DNAH11	8701	broad.mit.edu	37	chr7	21757423	21757423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	agttggatagacagaaggcgGcatcaatcagaaaaggccaa	12	7	2	3			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:21757423G>A	ENST00000409508.3	+	43	7045	c.7014G>A	c.(7012-7014)cgG>cgA	p.R2338R	DNAH11_ENST00000328843.6_Silent_p.R2345R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2345	AAA 2. {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						ACAGAAGGCGGCATCAATCAG	0.378									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.(7033-7035)cgG>cgA		dynein, axonemal, heavy chain 11							124	121	122					7																	21757423		1876	4097	5973	SO:0001819	synonymous_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.chr7:21757423G>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.7014G>A	7.37:g.21757423G>A			Somatic				DNAH11_ENST00000409508.3_Silent_p.R2338R	p.R2345R			WXS	Illumina GAIIx	Phase_I	Q96DT5	DYH11_HUMAN			44	7066	+			2345			AAA 2 (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.7035G>A																																																																																					0.378	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		9	45	0	0	0	1	0	9	45					A	21757423	G	A	21757423	2	1	50	1	0	0	0	0	0	0	0	1	4601	1190	42	3		3	DNAH11	7	21757423	Silent	SNP	G	TCGA-NF-A4WU-01A-11D-A28R-08		21757423	137381240	15	9290										
MYO1G	64005	broad.mit.edu	37	chr7	45003662	45003662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	gctcaccgcctcaaggggcaCggcccgcatcacccggtact	11	18	3	0	rs376350486		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:45003662C>T	ENST00000258787.7	-	20	2867	c.2731G>A	c.(2731-2733)Gtg>Atg	p.V911M		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	911	Myosin tail. {ECO:0000255}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V911L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCAAGGGGCACGGCCCGCATC	0.642																																						ENST00000258787.7																			1	Substitution - Missense(1)	p.V911L(1)	breast(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						c.(2731-2733)Gtg>Atg		myosin IG		C	MET/VAL	0,4390		0,0,2195	60	54	56		2731	2.2	0.5	7		56	1,8599		0,1,4299	no	missense	MYO1G	NM_033054.2	21	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	911/1019	45003662	1,12989	2195	4300	6495	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45003662C>T	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.2731G>A	7.37:g.45003662C>T	ENSP00000258787:p.Val911Met		Somatic					p.V911M	NM_033054.2	NP_149043.2	WXS	Illumina GAIIx	Phase_I	B0I1T2	MYO1G_HUMAN			20	2867	-			911					Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.2731G>A	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282849	0.23392	0.0	1.16E-4	ENSG00000136286	ENST00000258787	T	0.42900	0.96	4.24	2.22	0.28083	Myosin tail 2 (1);	0.000000	0.33834	N	0.004502	T	0.28665	0.0710	L	0.39397	1.21	0.20196	N	0.999927	B	0.32829	0.386	B	0.33392	0.163	T	0.11717	-1.0576	10	0.35671	T	0.21	.	5.015	0.14331	0.0:0.4693:0.3268:0.2038	.	911	B0I1T2	MYO1G_HUMAN	M	911	ENSP00000258787:V911M	ENSP00000258787:V911M	V	-	1	0	MYO1G	44970187	0.004000	0.15560	0.544000	0.28141	0.208000	0.24298	-0.013000	0.12678	0.395000	0.25257	0.655000	0.94253	GTG		0.642	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			3	11	0	0	0	1	0	3	11					T	45003662	C	T	45003662	3	4	50	1	0	0	0	0	1	0	0	0	10083	536	19	1	337	1	MYO1G	7	45003662	Missense_Mutation	SNP	C	TCGA-NF-A4WU-01A-11D-A28R-08	23246239	45003662	114135001	16	9291										
ASNS	440	broad.mit.edu	37	chr7	97488687	97488687	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	cacttttaaaaagggagtcgCggagtgcttcaatgtaacaa	10	7	1	0	rs149193118		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:97488687C>T	ENST00000394309.3	-	5	982	c.511G>A	c.(511-513)Gcg>Acg	p.A171T	ASNS_ENST00000175506.4_Missense_Mutation_p.A171T|ASNS_ENST00000437628.1_Missense_Mutation_p.A88T|ASNS_ENST00000422745.1_Missense_Mutation_p.A150T|ASNS_ENST00000394308.3_Missense_Mutation_p.A171T|ASNS_ENST00000455086.1_Missense_Mutation_p.A88T|ASNS_ENST00000444334.1_Missense_Mutation_p.A150T	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	171	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AAGGGAGTCGCGGAGTGCTTC	0.368																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000175506.4																			0				ovary(1)	1						c.(511-513)Gcg>Acg		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	69	73	71		448,262,262,511,511,511	-3.6	0	7	dbSNP_134	71	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense	ASNS	NM_001178075.1,NM_001178076.1,NM_001178077.1,NM_001673.4,NM_133436.3,NM_183356.3	58,58,58,58,58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign,benign,benign,benign	150/541,88/479,88/479,171/562,171/562,171/562	97488687	2,13004	2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97488687C>T	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.511G>A	7.37:g.97488687C>T	ENSP00000377846:p.Ala171Thr		Somatic				ASNS_ENST00000455086.1_Missense_Mutation_p.A88T|ASNS_ENST00000394308.3_Missense_Mutation_p.A171T|ASNS_ENST00000437628.1_Missense_Mutation_p.A88T|ASNS_ENST00000444334.1_Missense_Mutation_p.A150T|ASNS_ENST00000422745.1_Missense_Mutation_p.A150T|ASNS_ENST00000394309.3_Missense_Mutation_p.A171T	p.A171T	NM_183356.3	NP_899199.2	WXS	Illumina GAIIx	Phase_I	P08243	ASNS_HUMAN			6	1039	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		171			Glutamine amidotransferase type-2.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.511G>A	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	C	0.150	-1.092437	0.01858	4.54E-4	0.0	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334;ENST00000442734	T;T;T;T;T;T;T;T	0.48201	0.84;0.84;0.82;0.84;0.84;0.82;0.84;0.93	4.61	-3.63	0.04529	Glutamine amidotransferase, type II (1);	1.053790	0.07392	N	0.889216	T	0.19046	0.0457	N	0.11341	0.13	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19614	-1.0300	10	0.11794	T	0.64	0.4036	0.6963	0.00899	0.2545:0.1615:0.1308:0.4532	.	171	P08243	ASNS_HUMAN	T	171;171;88;171;150;88;150;171	ENSP00000175506:A171T;ENSP00000377846:A171T;ENSP00000414379:A88T;ENSP00000377845:A171T;ENSP00000414901:A150T;ENSP00000408472:A88T;ENSP00000406994:A150T;ENSP00000400422:A171T	ENSP00000175506:A171T	A	-	1	0	ASNS	97326623	0.010000	0.17322	0.025000	0.17156	0.000000	0.00434	0.040000	0.13905	-0.397000	0.07691	-1.971000	0.00464	GCG		0.368	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		13	36	0	0	0	1	0	13	36					T	97488687	C	T	97488687	3	4	50	1	0	0	0	0	1	0	0	0	1048	768	27	1	1210	1	ASNS	7	97488687	Missense_Mutation	SNP	C	TCGA-NF-A4WU-01A-11D-A28R-08	52485025	97488687	61649976	17	9292										
ASZ1	136991	broad.mit.edu	37	chr7	117067469	117067469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	atcctcgctctcgctactctCgcctccgccagccactggca	7	20	2	0			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:117067469C>T	ENST00000284629.2	-	1	108	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1									p.E16K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TCGCTACTCTCGCCTCCGCCA	0.667											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000284629.2																			1	Substitution - Missense(1)	p.E16K(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(46-48)Gag>Aag		ankyrin repeat, SAM and basic leucine zipper domain containing 1							57	53	54					7																	117067469		2203	4300	6503	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117067469C>T	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	1350	protein-coding gene	gene with protein product		605797	"ankyrin-like 1"	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.46G>A	7.37:g.117067469C>T	ENSP00000284629:p.Glu16Lys		Somatic	OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1478		p.E16K	NM_130768.2	NP_570124.1	WXS	Illumina GAIIx	Phase_I	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		1	108	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		16						Missense_Mutation	SNP	ENST00000284629.2	37	c.46G>A	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721436	0.89298	.	.	ENSG00000154438	ENST00000284629	T	0.69306	-0.39	5.14	5.14	0.70334	.	0.057091	0.64402	D	0.000002	T	0.81880	0.4916	M	0.78049	2.395	0.48452	D	0.99965	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	D	0.83488	0.0068	10	0.72032	D	0.01	-1.79	16.4814	0.84158	0.0:1.0:0.0:0.0	.	16;16	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	K	16	ENSP00000284629:E16K	ENSP00000284629:E16K	E	-	1	0	ASZ1	116854705	1.000000	0.71417	0.999000	0.59377	0.576000	0.36127	3.829000	0.55760	2.829000	0.97493	0.655000	0.94253	GAG		0.667	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		19	79	0	0	0	1	0	19	79					T	117067469	C	T	117067469	3	4	50	1	0	0	0	0	1	0	0	0	1069	893	31	1	1433	1	ASZ1	7	117067469	Missense_Mutation	SNP	C	TCGA-NF-A4WU-01A-11D-A28R-08	19578782	117067469	42071194	18	9293										
DERL1	79139	broad.mit.edu	37	chr8	124037229	124037229	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	cacagactgaaggataccacGatgcaaatccagttaaagag	9	9	0	3			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr8:124037229G>T	ENST00000259512.4	-	3	627	c.327C>A	c.(325-327)atC>atA	p.I109I	DERL1_ENST00000419562.2_Intron|DERL1_ENST00000405944.3_Silent_p.I109I|DERL1_ENST00000519018.1_Silent_p.I9I|DERL1_ENST00000523036.1_Silent_p.I9I|RP11-557C18.3_ENST00000521258.1_RNA	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	109					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGGATACCACGATGCAAATCC	0.383																																						ENST00000259512.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8						c.(325-327)atC>atA		derlin 1							69	65	66					8																	124037229		2203	4300	6503	SO:0001819	synonymous_variant	79139				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	g.chr8:124037229G>T	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"Der1-like domain family, member 1"			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.327C>A	8.37:g.124037229G>T			Somatic				DERL1_ENST00000405944.3_Silent_p.I109I|DERL1_ENST00000523036.1_Silent_p.I9I|DERL1_ENST00000419562.2_Intron|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000519018.1_Silent_p.I9I	p.I109I	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	WXS	Illumina GAIIx	Phase_I	Q9BUN8	DERL1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	627	-	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		109					B3KW41|E9PH19	Silent	SNP	ENST00000259512.4	37	c.327C>A	CCDS6337.1																																																																																				0.383	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	NM_024295		5	30	1	0	0.000602214	1	0.000634476	5	30					T	124037229	G	T	124037229	2	4	50	1	0	0	0	0	0	0	0	1	4448	1048	37	2		2	DERL1	8	124037229	Silent	SNP	G	TCGA-NF-A4WU-01A-11D-A28R-08		124037229	22326793	19	9294										
NCBP1	4686	broad.mit.edu	37	chr9	100403882	100403882	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	agcaacctagaaggcttggcTggtgttttggaagctgatct	13	7	1	2			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr9:100403882T>A	ENST00000375147.3	+	3	418	c.162T>A	c.(160-162)gcT>gcA	p.A54A		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	54	MIF4G.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				AAGGCTTGGCTGGTGTTTTGG	0.373																																					Ovarian(36;879 898 2893 44212 50307)	ENST00000375147.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19						c.(160-162)gcT>gcA		nuclear cap binding protein subunit 1, 80kDa							165	155	158					9																	100403882		2203	4300	6503	SO:0001819	synonymous_variant	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100403882T>A	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"nuclear cap binding protein subunit 1, 80kD"	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.162T>A	9.37:g.100403882T>A			Somatic					p.A54A	NM_002486.4	NP_002477.1	WXS	Illumina GAIIx	Phase_I	Q09161	NCBP1_HUMAN			3	418	+		Acute lymphoblastic leukemia(62;0.158)	54			MIF4G.		B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	ENST00000375147.3	37	c.162T>A	CCDS6728.1																																																																																				0.373	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		33	69	0	0	0	1	0	33	69					A	100403882	T	A	100403882	2	1	50	1	0	0	0	0	0	0	0	1	10220	1567	55	4		4	NCBP1	9	100403882	Silent	SNP	T	TCGA-NF-A4WU-01A-11D-A28R-08		100403882	40809549	20	9295										
LMX1B	4010	broad.mit.edu	37	chr9	129453154	129453154	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	agcggctgcatggagaagatCgcccccaccgagttcgtgat	13	12	0	3	rs200350302		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr9:129453154C>T	ENST00000373474.4	+	3	373	c.366C>T	c.(364-366)atC>atT	p.I122I	LMX1B_ENST00000561065.1_Silent_p.I99I|LMX1B_ENST00000425646.2_Silent_p.I99I|LMX1B_ENST00000355497.5_Silent_p.I122I|LMX1B_ENST00000526117.1_Silent_p.I122I			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	122	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						TGGAGAAGATCGCCCCCACCG	0.647									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(364-366)atC>atT		LIM homeobox transcription factor 1, beta							47	42	44					9																	129453154		2203	4300	6503	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.chr9:129453154C>T	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"Homeoboxes / LIM class"	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.366C>T	9.37:g.129453154C>T			Somatic				LMX1B_ENST00000373474.4_Silent_p.I122I|LMX1B_ENST00000526117.1_Silent_p.I122I|LMX1B_ENST00000561065.1_Silent_p.I99I|LMX1B_ENST00000425646.2_Silent_p.I99I	p.I122I	NM_001174146.1	NP_001167617.1	WXS	Illumina GAIIx	Phase_I	O60663	LMX1B_HUMAN			3	373	+			99			LIM zinc-binding 2.		F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	ENST00000373474.4	37	c.366C>T	CCDS55342.1																																																																																				0.647	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			15	24	0	0	0	1	0	15	24					T	129453154	C	T	129453154	2	4	50	1	0	0	0	0	0	0	0	1	8871	874	31	1		1	LMX1B	9	129453154	Silent	SNP	C	TCGA-NF-A4WU-01A-11D-A28R-08	29049272	129453154	11760277	21	9296										
ARMC3	219681	broad.mit.edu	37	chr10	23292319	23292319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	tcatcaagtaacataattaaCgatggattctatgattatgg	7	5	3	1	rs370847654		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr10:23292319C>T	ENST00000298032.5	+	13	1791	c.1707C>T	c.(1705-1707)aaC>aaT	p.N569N	ARMC3_ENST00000409049.3_Silent_p.N569N|ARMC3_ENST00000376528.4_Silent_p.N306N|ARMC3_ENST00000409983.3_Silent_p.N569N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	569						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACATAATTAACGATGGATTCT	0.323																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1705-1707)aaC>aaT		armadillo repeat containing 3		C		0,4406		0,0,2203	131	135	134		1707	2	0.3	10		134	1,8599		0,1,4299	no	coding-synonymous	ARMC3	NM_173081.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		569/873	23292319	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	219681						binding	g.chr10:23292319C>T	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1707C>T	10.37:g.23292319C>T			Somatic				ARMC3_ENST00000409049.3_Silent_p.N569N|ARMC3_ENST00000376528.4_Silent_p.N306N|ARMC3_ENST00000409983.3_Silent_p.N569N	p.N569N	NM_173081.3	NP_775104.2	WXS	Illumina GAIIx	Phase_I	Q5W041	ARMC3_HUMAN			13	1791	+			569					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Silent	SNP	ENST00000298032.5	37	c.1707C>T	CCDS7142.1																																																																																				0.323	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		19	95	0	0	0	1	0	19	95					T	23292319	C	T	23292319	2	4	50	1	0	0	0	0	0	0	0	1	952	535	19	1		1	ARMC3	10	23292319	Silent	SNP	C	TCGA-NF-A4WU-01A-11D-A28R-08		23292319	112242428	22	9297										
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic				KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	WXS	Illumina GAIIx	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		7	9	1	0	0.00198382	1	0.00205343	7	9					A	25398284	C	A	25398284	3	1	50	1	0	0	0	0	1	0	0	0	8447	507	18	5	671	5	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-NF-A4WU-01A-11D-A28R-08		25398284	108453611	23	9298										
OR9K2	441639	broad.mit.edu	37	chr12	55524043	55524043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	ctctgttcaaatgtccacacGtctgtgtactcagttggtgg	10	10	4	0			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:55524043G>A	ENST00000305377.5	+	1	579	c.491G>A	c.(490-492)cGt>cAt	p.R164H		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ATGTCCACACGTCTGTGTACT	0.468																																						ENST00000305377.5																			0				NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						c.(490-492)cGt>cAt		olfactory receptor, family 9, subfamily K, member 2							145	137	140					12																	55524043		2203	4300	6503	SO:0001583	missense	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55524043G>A	BK004326	CCDS31814.1	12q13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.491G>A	12.37:g.55524043G>A	ENSP00000307598:p.Arg164His		Somatic					p.R164H	NM_001005243.1	NP_001005243.1	WXS	Illumina GAIIx	Phase_I	Q8NGE7	OR9K2_HUMAN			1	579	+			164					B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	c.491G>A	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	G	8.596	0.885651	0.17540	.	.	ENSG00000170605	ENST00000305377	T	0.00406	7.55	4.98	-0.24	0.13047	GPCR, rhodopsin-like superfamily (1);	0.404876	0.21454	N	0.074295	T	0.00356	0.0011	M	0.63428	1.95	0.09310	N	1	B	0.15930	0.015	B	0.15870	0.014	T	0.44390	-0.9331	10	0.59425	D	0.04	0.0695	6.1759	0.20442	0.5505:0.0:0.3196:0.1298	.	164	Q8NGE7	OR9K2_HUMAN	H	164	ENSP00000307598:R164H	ENSP00000307598:R164H	R	+	2	0	OR9K2	53810310	0.000000	0.05858	0.351000	0.25721	0.578000	0.36192	-2.219000	0.01218	-0.064000	0.13043	0.650000	0.86243	CGT		0.468	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			34	108	0	0	0	1	0	34	108					A	55524043	G	A	55524043	3	1	50	1	0	0	0	0	1	0	0	0	11263	1145	40	1	493	1	OR9K2	12	55524043	Missense_Mutation	SNP	G	TCGA-NF-A4WU-01A-11D-A28R-08	30125759	55524043	78327852	24	9299										
ERBB3	2065	broad.mit.edu	37	chr12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	taccattgcccaacctccgcGtggtgcgagggacccaggtc	12	15	0	0			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:56478854G>A	ENST00000267101.3	+	3	750	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.V104M|ERBB3_ENST00000415288.2_Missense_Mutation_p.V45M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517																																						ENST00000267101.3																			9	Substitution - Missense(9)	p.V104M(7)|p.V104L(2)	large_intestine(5)|endometrium(2)|ovary(1)|NS(1)	central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(310-312)Gtg>Atg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							186	159	168					12																	56478854		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.chr12:56478854G>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.310G>A	12.37:g.56478854G>A	ENSP00000267101:p.Val104Met		Somatic				ERBB3_ENST00000411731.2_Missense_Mutation_p.V104M|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.V45M	p.V104M	NM_001982.3	NP_001973.2	WXS	Illumina GAIIx	Phase_I	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		3	750	+			104		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.310G>A	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103691	0.56291	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.82	4.93	0.64822	EGF receptor, L domain (1);	0.096412	0.43416	D	0.000573	D	0.87438	0.6177	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.59221	0.698;0.854	D	0.88227	0.2901	10	0.59425	D	0.04	.	10.6531	0.45659	0.1547:0.0:0.8453:0.0	.	104;104	P21860;P21860-2	ERBB3_HUMAN;.	M	104;45;104;104;104;45;45	ENSP00000448636:V104M;ENSP00000449138:V45M;ENSP00000267101:V104M;ENSP00000415753:V104M;ENSP00000449713:V45M;ENSP00000408340:V45M	ENSP00000267101:V104M	V	+	1	0	ERBB3	54765121	1.000000	0.71417	0.892000	0.35008	0.052000	0.14988	4.300000	0.59079	1.450000	0.47717	0.655000	0.94253	GTG		0.517	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			75	161	0	0	0	1	0	75	161					A	56478854	G	A	56478854	3	1	50	1	0	0	0	0	1	0	0	0	5210	1145	40	1	320	1	ERBB3	12	56478854	Missense_Mutation	SNP	G	TCGA-NF-A4WU-01A-11D-A28R-08	954811	56478854	77373041	25	9300										
ERBB3	2065	broad.mit.edu	37	chr12	56492632	56492632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	cagacctgctagagaaggggGagcggttggcacagccccag	16	11	0	2			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:56492632G>A	ENST00000267101.3	+	23	3222	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K	RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000450146.2_Missense_Mutation_p.E285K|ERBB3_ENST00000549832.1_Missense_Mutation_p.E48K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E869K|ERBB3_ENST00000553131.1_Missense_Mutation_p.E169K	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	928	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)			AGAGAAGGGGGAGCGGTTGGC	0.512																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(2782-2784)Gag>Aag		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							114	102	106					12																	56492632		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.chr12:56492632G>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.2782G>A	12.37:g.56492632G>A	ENSP00000267101:p.Glu928Lys		Somatic				ERBB3_ENST00000549832.1_Missense_Mutation_p.E48K|ERBB3_ENST00000450146.2_Missense_Mutation_p.E285K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E869K|ERBB3_ENST00000553131.1_Missense_Mutation_p.E169K	p.E928K	NM_001982.3	NP_001973.2	WXS	Illumina GAIIx	Phase_I	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		23	3222	+			928			Protein kinase.		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.2782G>A	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	37	5.983417	0.97173	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	6.17	6.17	0.99709	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.86719	0.6000	N	0.25245	0.725	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	0.87636	0.2519	10	0.87932	D	0	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	869;48;928	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	K	928;285;869;51;169;48	ENSP00000267101:E928K;ENSP00000399178:E285K;ENSP00000408340:E869K;ENSP00000449129:E169K;ENSP00000448729:E48K	ENSP00000267101:E928K	E	+	1	0	ERBB3	54778899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.686000	0.98664	2.941000	0.99782	0.655000	0.94253	GAG		0.512	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			49	138	0	0	0	1	0	49	138					A	56492632	G	A	56492632	3	1	50	1	0	0	0	0	1	0	0	0	5210	1175	41	3	3003	3	ERBB3	12	56492632	Missense_Mutation	SNP	G	TCGA-NF-A4WU-01A-11D-A28R-08	13778	56492632	77359263	26	9301										
NACA	4666	broad.mit.edu	37	chr12	57114545	57114545	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	gcttcctgggttttgtggagAaatcagaactgaggaaatgg	14	5	1	3			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:57114545A>C	ENST00000454682.1	-	3	1050	c.769T>G	c.(769-771)Tct>Gct	p.S257A	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S257A	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	257	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S257P(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTGTGGAGAAATCAGAACT	0.512			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		1	Substitution - Missense(1)	p.S257P(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(769-771)Tct>Gct		nascent polypeptide-associated complex alpha subunit							172	159	163					12																	57114545		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.chr12:57114545A>C	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.769T>G	12.37:g.57114545A>C	ENSP00000403817:p.Ser257Ala		Somatic				NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S257A|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron	p.S257A	NM_001113203.2	NP_001106674.2	WXS	Illumina GAIIx	Phase_I	Q13765	NACA_HUMAN			3	1050	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.769T>G		.	.	.	.	.	.	.	.	.	.	a	13.97	2.397131	0.42512	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.32272	1.46;1.46	3.58	-1.13	0.09775	.	.	.	.	.	T	0.13372	0.0324	N	0.08118	0	0.09310	N	0.999999	B;B	0.19817	0.039;0.007	B;B	0.17433	0.018;0.018	T	0.21518	-1.0243	9	0.87932	D	0	.	3.3985	0.07315	0.4606:0.2128:0.3265:0.0	.	257;257	E9PAV3;F8VU71	.;.	A	257	ENSP00000403817:S257A;ENSP00000448035:S257A	ENSP00000403817:S257A	S	-	1	0	NACA	55400812	0.678000	0.27586	0.714000	0.30535	0.169000	0.22640	0.847000	0.27696	-0.594000	0.05836	0.235000	0.17854	TCT		0.512	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		63	55	0	0	0	1	0	63	55					C	57114545	A	C	57114545	3	2	50	1	0	0	0	0	1	0	0	0	10142	246	9	4	5495	4	NACA	12	57114545	Missense_Mutation	SNP	A	TCGA-NF-A4WU-01A-11D-A28R-08	621913	57114545	76737350	27	9302										
FSCB	84075	broad.mit.edu	37	chr14	44976102	44976102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	ttccagaagtattaccaataCgatgggtagctttggggcta	11	7	0	1	rs554125229		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr14:44976102C>T	ENST00000340446.4	-	1	380	c.89G>A	c.(88-90)cGt>cAt	p.R30H	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	30						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.R30H(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)		ATTACCAATACGATGGGTAGC	0.428																																						ENST00000340446.4																			1	Substitution - Missense(1)	p.R30H(1)	central_nervous_system(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.(88-90)cGt>cAt		fibrous sheath CABYR binding protein							227	220	222					14																	44976102		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44976102C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.89G>A	14.37:g.44976102C>T	ENSP00000344579:p.Arg30His		Somatic					p.R30H	NM_032135.3	NP_115511.3	WXS	Illumina GAIIx	Phase_I	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	380	-			30					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.89G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004566	0.35320	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.12569	2.67	5.49	3.68	0.42216	.	.	.	.	.	T	0.15478	0.0373	N	0.22421	0.69	0.22552	N	0.999	D	0.71674	0.998	P	0.53649	0.731	T	0.08973	-1.0696	9	0.56958	D	0.05	-0.3208	8.5507	0.33449	0.0:0.823:0.0:0.177	.	30	Q5H9T9	FSCB_HUMAN	H	30	ENSP00000344579:R30H	ENSP00000344579:R30H	R	-	2	0	FSCB	44045852	0.980000	0.34600	0.756000	0.31282	0.077000	0.17291	0.886000	0.28241	0.816000	0.34421	0.555000	0.69702	CGT		0.428	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		22	115	0	0	0	1	0	22	115					T	44976102	C	T	44976102	3	4	50	1	0	0	0	0	1	0	0	0	6074	536	19	1	2392	1	FSCB	14	44976102	Missense_Mutation	SNP	C	TCGA-NF-A4WU-01A-11D-A28R-08		44976102	62373438	28	9303										
SAV1	60485	broad.mit.edu	37	chr14	51101951	51101951	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	ccactgctgtctctgctttcGgttttccaactctgtaagaa	7	12	2	1			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr14:51101951G>A	ENST00000324679.4	-	5	1465	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	RN7SL452P_ENST00000482923.2_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	368	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				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)					CTCTGCTTTCGGTTTTCCAAC	0.343																																						ENST00000324679.4																			0				breast(1)|kidney(2)|lung(2)|prostate(1)	6						c.(1102-1104)Cga>Tga		salvador homolog 1 (Drosophila)							137	129	132					14																	51101951		2203	4300	6503	SO:0001587	stop_gained	60485				hippo signaling cascade	cytoplasm|nucleus	identical protein binding	g.chr14:51101951G>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.1102C>T	14.37:g.51101951G>A	ENSP00000324729:p.Arg368*		Somatic					p.R368*	NM_021818.3	NP_068590.1	WXS	Illumina GAIIx	Phase_I	Q9H4B6	SAV1_HUMAN			5	1465	-	all_epithelial(31;0.000611)|Breast(41;0.0333)		368			SARAH.		A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Nonsense_Mutation	SNP	ENST00000324679.4	37	c.1102C>T	CCDS9701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.14|16.14	3.038299|3.038299	0.54896|0.54896	.|.	.|.	ENSG00000151748|ENSG00000151748	ENST00000557458|ENST00000555720;ENST00000324679;ENST00000535862	.|.	.|.	.|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.100365	.|0.64402	.|D	.|0.000001	T|.	0.46964|.	0.1420|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36529|.	-0.9744|.	4|.	.|0.02654	.|T	.|1	-1.0887|-1.0887	18.5751|18.5751	0.91151|0.91151	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	73|300;368;335	.|.	.|ENSP00000324729:R368X	P|R	-|-	2|1	0|2	SAV1|SAV1	50171701|50171701	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.255000|0.255000	0.26057|0.26057	9.795000|9.795000	0.99099|0.99099	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.343	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276879.1			23	34	0	0	0	1	0	23	34					A	51101951	G	A	51101951	4	1	50	1	0	0	0	0	0	1	0	0	13871	1124	39	1	53	1	SAV1	14	51101951	Nonsense_Mutation	SNP	G	TCGA-NF-A4WU-01A-11D-A28R-08	6125849	51101951	56247589	29	9304										
MAN2A2	4122	broad.mit.edu	37	chr15	91455346	91455346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	gctgggcctggatgggcaccGcacgctgccctcctctgtgc	14	16	1	0	rs146996561		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr15:91455346G>A	ENST00000559717.1	+	15	2642	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	MAN2A2_ENST00000430376.2_5'Flank|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R236H|MAN2A2_ENST00000360468.3_Missense_Mutation_p.R728H			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	728					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)			GATGGGCACCGCACGCTGCCC	0.667																																						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.(2182-2184)cGc>cAc		mannosidase, alpha, class 2A, member 2		G	HIS/ARG	0,4396		0,0,2198	63	60	61		2183	1.8	0.2	15	dbSNP_134	61	1,8595	1.2+/-3.3	0,1,4297	no	missense	MAN2A2	NM_006122.2	29	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign	728/1151	91455346	1,12991	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.chr15:91455346G>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.2183G>A	15.37:g.91455346G>A	ENSP00000452948:p.Arg728His		Somatic				MAN2A2_ENST00000559717.1_Missense_Mutation_p.R728H|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R236H	p.R728H	NM_006122.2	NP_006113.2	WXS	Illumina GAIIx	Phase_I	P49641	MA2A2_HUMAN	Lung(145;0.229)		14	2201	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		728					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.2183G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191580	0.38707	0.0	1.16E-4	ENSG00000196547	ENST00000360468;ENST00000431652	T;T	0.78816	-1.21;-1.21	5.29	1.83	0.25207	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.406531	0.30584	N	0.009317	T	0.69214	0.3086	M	0.64997	1.995	0.26295	N	0.978066	B;B;B	0.12013	0.005;0.0;0.002	B;B;B	0.16289	0.015;0.005;0.008	T	0.59241	-0.7491	10	0.45353	T	0.12	-12.6347	4.9597	0.14059	0.4073:0.1598:0.4329:0.0	.	236;356;728	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	H	728;236	ENSP00000353655:R728H;ENSP00000388221:R236H	ENSP00000353655:R728H	R	+	2	0	MAN2A2	89256350	0.455000	0.25736	0.154000	0.22540	0.974000	0.67602	0.748000	0.26305	0.080000	0.16959	0.456000	0.33151	CGC		0.667	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		56	58	0	0	0	1	0	56	58					A	91455346	G	A	91455346	3	1	50	1	0	0	0	0	1	0	0	0	9224	1087	38	1	2237	1	MAN2A2	15	91455346	Missense_Mutation	SNP	G	TCGA-NF-A4WU-01A-11D-A28R-08		91455346	11076046	30	9305										
ABCA3	21	broad.mit.edu	37	chr16	2331468	2331468	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	ggtcctctcgtccgctacatCttggtcctcaggaagcacag	10	14	3	0			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr16:2331468C>T	ENST00000301732.5	-	27	4778	c.4078G>A	c.(4078-4080)Gat>Aat	p.D1360N	ABCA3_ENST00000382381.3_Missense_Mutation_p.D1302N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1360					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TCCGCTACATCTTGGTCCTCA	0.582																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(4078-4080)Gat>Aat		ATP-binding cassette, sub-family A (ABC1), member 3							66	67	66					16																	2331468		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.chr16:2331468C>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.4078G>A	16.37:g.2331468C>T	ENSP00000301732:p.Asp1360Asn		Somatic				ABCA3_ENST00000382381.3_Missense_Mutation_p.D1302N	p.D1360N	NM_001089.2	NP_001080.2	WXS	Illumina GAIIx	Phase_I	Q99758	ABCA3_HUMAN			27	4778	-		Ovarian(90;0.17)	1360					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.4078G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757631	0.89843	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.92858	-3.12	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.95436	0.8518	M	0.86097	2.795	0.80722	D	1	B;D	0.54964	0.382;0.969	B;P	0.55455	0.202;0.776	D	0.95813	0.8843	10	0.87932	D	0	.	16.6276	0.84975	0.0:1.0:0.0:0.0	.	1364;1360	Q4LE27;Q99758	.;ABCA3_HUMAN	N	1360;1364	ENSP00000301732:D1360N	ENSP00000301732:D1360N	D	-	1	0	ABCA3	2271469	1.000000	0.71417	0.982000	0.44146	0.535000	0.34838	6.929000	0.75852	2.699000	0.92147	0.655000	0.94253	GAT		0.582	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		10	98	0	0	0	1	0	10	98					T	2331468	C	T	2331468	3	4	50	1	0	0	0	0	1	0	0	0	33	913	32	3	1064	3	ABCA3	16	2331468	Missense_Mutation	SNP	C	TCGA-NF-A4WU-01A-11D-A28R-08		2331468	88023285	31	9306										
SRRM2	23524	broad.mit.edu	37	chr16	2812318	2812318	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	ccaggcggagatcacgatccAgaactcccaccaggcgtagg	12	14	1	2			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr16:2812318A>G	ENST00000301740.8	+	11	2338	c.1789A>G	c.(1789-1791)Aga>Gga	p.R597G		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	597	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			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						ATCACGATCCAGAACTCCCAC	0.617																																						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.(1789-1791)Aga>Gga		serine/arginine repetitive matrix 2							52	56	55					16																	2812318		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.chr16:2812318A>G	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.1789A>G	16.37:g.2812318A>G	ENSP00000301740:p.Arg597Gly		Somatic					p.R597G	NM_016333.3	NP_057417.3	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			11	2338	+			597			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.1789A>G	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.386784	0.25031	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.29655	1.56	5.91	4.79	0.61399	.	0.000000	0.64402	D	0.000003	T	0.24586	0.0596	N	0.24115	0.695	0.38104	D	0.937361	D	0.58268	0.982	P	0.46796	0.527	T	0.05533	-1.0879	10	0.27082	T	0.32	-12.5153	11.3036	0.49320	0.8472:0.1528:0.0:0.0	.	597	Q9UQ35	SRRM2_HUMAN	G	597;597;562	ENSP00000301740:R597G	ENSP00000301740:R597G	R	+	1	2	SRRM2	2752319	0.996000	0.38824	0.988000	0.46212	0.890000	0.51754	2.352000	0.44080	1.011000	0.39340	0.533000	0.62120	AGA		0.617	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			23	57	0	0	0	1	0	23	57					G	2812318	A	G	2812318	3	3	50	1	0	0	0	0	1	0	0	0	15184	180	7	4	1827	4	SRRM2	16	2812318	Missense_Mutation	SNP	A	TCGA-NF-A4WU-01A-11D-A28R-08	480850	2812318	87542435	32	9307										
PKD1L2	114780	broad.mit.edu	37	chr16	81197274	81197274	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	ctggtcacacggaggccaccGacagtcccgctgacatcaaa	10	15	2	1			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr16:81197274G>A	ENST00000525539.1	-	0	3407				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	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						GGAGGCCACCGACAGTCCCGC	0.532																																						ENST00000525539.1																			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							42	41	42					16																	81197274		1958	4156	6114			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81197274G>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.81197274G>A			Somatic				PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	WXS	Illumina GAIIx	Phase_I	Q7Z442	PK1L2_HUMAN			0	3407	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000525539.1	37																																																																																						0.532	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			5	12	0	0	0	1	0	5	12					A	81197274	G	A	81197274	1	1	50	0	1	0	0	0	0	0	0	0	11974	1045	37	1		1	PKD1L2	16	81197274	RNA	SNP	G	TCGA-NF-A4WU-01A-11D-A28R-08	78384956	81197274	9157479	33	9308										
TP53	7157	broad.mit.edu	37	chr17	7578272	7578272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	tccttccactcggataagatGctgaggaggggccagaccta	12	11	0	3			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr17:7578272G>A	ENST00000269305.4	-	6	766	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	TP53_ENST00000420246.2_Missense_Mutation_p.H193Y|TP53_ENST00000445888.2_Missense_Mutation_p.H193Y|TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y	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.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(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)	CGGATAAGATGCTGAGGAGGG	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"		85	Substitution - Missense(52)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(1)	breast(14)|lung(12)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(7)|ovary(6)|upper_aerodigestive_tract(5)|liver(5)|oesophagus(5)|central_nervous_system(4)|skin(4)|bone(4)|large_intestine(3)|stomach(2)|urinary_tract(2)|pancreas(2)|adrenal_gland(1)|soft_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.(577-579)Cat>Tat	Other conserved DNA damage response genes	tumor protein p53							95	85	88					17																	7578272		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.chr17:7578272G>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.577C>T	17.37:g.7578272G>A	ENSP00000269305:p.His193Tyr	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_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000269305.4_Missense_Mutation_p.H193Y|TP53_ENST00000445888.2_Missense_Mutation_p.H193Y|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y	p.H193Y	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	709	-		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.577C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387715	0.61956	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	M	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96559	0.9414	10	0.87932	D	0	-29.0766	17.0767	0.86588	0.0:0.0:1.0:0.0	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193Y;ENSP00000352610:H193Y;ENSP00000269305:H193Y;ENSP00000398846:H193Y;ENSP00000391127:H193Y;ENSP00000391478:H193Y;ENSP00000425104:H61Y;ENSP00000423862:H100Y	ENSP00000269305:H193Y	H	-	1	0	TP53	7518997	1.000000	0.71417	0.971000	0.41717	0.032000	0.12392	9.813000	0.99286	2.702000	0.92279	0.655000	0.94253	CAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	22	0	0	0	1	0	16	22					A	7578272	G	A	7578272	3	1	50	1	0	0	0	0	1	0	0	0	16396	1319	46	3	717	3	TP53	17	7578272	Missense_Mutation	SNP	G	TCGA-NF-A4WU-01A-11D-A28R-08		7578272	73616938	34	9309										
NF1	4763	broad.mit.edu	37	chr17	29687566	29687566	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	tcttgatgccttgattgacaCgtacctgcctggaattgatg	10	9	1	4	rs144178015		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr17:29687566C>G	ENST00000358273.4	+	57	8605	c.8222C>G	c.(8221-8223)aCg>aGg	p.T2741R	NF1_ENST00000356175.3_Missense_Mutation_p.T2720R|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Missense_Mutation_p.T534R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2741					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGATTGACACGTACCTGCCT	0.418			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(8221-8223)aCg>aGg		neurofibromin 1							169	162	164					17																	29687566		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29687566C>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.8222C>G	17.37:g.29687566C>G	ENSP00000351015:p.Thr2741Arg	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	Somatic				NF1_ENST00000356175.3_Missense_Mutation_p.T2720R|NF1_ENST00000444181.2_Missense_Mutation_p.T534R|NF1_ENST00000417592.2_3'UTR	p.T2741R	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)	57	8605	+		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)	2741					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.8222C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938539	0.52972	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.49432	3.05;3.19;2.88;0.78	5.27	5.27	0.74061	.	0.165378	0.50627	D	0.000101	T	0.36963	0.0986	L	0.32530	0.975	0.80722	D	1	B;B;B	0.31485	0.177;0.325;0.138	B;B;B	0.25506	0.041;0.061;0.059	T	0.34900	-0.9810	10	0.87932	D	0	.	13.8091	0.63252	0.1532:0.8468:0.0:0.0	.	534;2720;2741	B4DXH1;P21359-2;P21359	.;.;NF1_HUMAN	R	2741;2720;2386;534	ENSP00000351015:T2741R;ENSP00000348498:T2720R;ENSP00000389907:T2386R;ENSP00000396481:T534R	ENSP00000348498:T2720R	T	+	2	0	NF1	26711692	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.793000	0.47845	2.465000	0.83290	0.655000	0.94253	ACG		0.418	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		15	143	0	0	0	1	0	15	143					G	29687566	C	G	29687566	3	3	50	1	0	0	0	0	1	0	0	0	10365	536	19	5	8509	5	NF1	17	29687566	Missense_Mutation	SNP	C	TCGA-NF-A4WU-01A-11D-A28R-08	22109294	29687566	51507644	35	9310										
SUZ12	23512	broad.mit.edu	37	chr17	30293184	30293184	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	agcttgtcagctcatttgcaGcttacgtttactggtttctt	8	9	3	0			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr17:30293184G>A	ENST00000322652.5	+	5	703	c.474G>A	c.(472-474)caG>caA	p.Q158Q	SUZ12_ENST00000580398.1_Silent_p.Q135Q|RNA5SP437_ENST00000517249.1_RNA	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	158					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CTCATTTGCAGCTTACGTTTA	0.269			T	JAZF1	endometrial stromal tumours																																	ENST00000322652.5				Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21						c.(472-474)caG>caA		SUZ12 polycomb repressive complex 2 subunit							28	28	28					17																	30293184		2199	4288	6487	SO:0001819	synonymous_variant	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30293184G>A	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"Zinc fingers, C2H2-type"	17101	protein-coding gene	gene with protein product		606245	"suppressor of zeste 12 homolog (Drosophila)"			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.474G>A	17.37:g.30293184G>A			Somatic				SUZ12_ENST00000580398.1_Silent_p.Q135Q	p.Q158Q	NM_015355.2	NP_056170.2	WXS	Illumina GAIIx	Phase_I	Q15022	SUZ12_HUMAN			5	703	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	158					Q96BD9	Silent	SNP	ENST00000322652.5	37	c.474G>A	CCDS11270.1																																																																																				0.269	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		3	11	0	0	0	1	0	3	11					A	30293184	G	A	30293184	2	1	50	1	0	0	0	0	0	0	0	1	15431	962	34	3		3	SUZ12	17	30293184	Silent	SNP	G	TCGA-NF-A4WU-01A-11D-A28R-08	605618	30293184	50902026	36	9311										
ZNF585A	199704	broad.mit.edu	37	chr19	37643369	37643369	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	atgtgtaatgagatttgaccGgttggtgaatgccttcccac	11	8	0	3	rs143272721	byFrequency	TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr19:37643369G>T	ENST00000356958.4	-	5	1690	c.1432C>A	c.(1432-1434)Cgg>Agg	p.R478R	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Silent_p.R423R|ZNF585A_ENST00000292841.5_Silent_p.R423R			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	478					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)			AGATTTGACCGGTTGGTGAAT	0.403																																						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.(1432-1434)Cgg>Agg		zinc finger protein 585A							107	104	105					19																	37643369		2203	4300	6503	SO:0001819	synonymous_variant	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643369G>T	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.1432C>A	19.37:g.37643369G>T			Somatic				ZNF585A_ENST00000292841.5_Silent_p.R423R|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Silent_p.R423R	p.R478R			WXS	Illumina GAIIx	Phase_I	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1690	-			478					Q8TE95|Q96MV3	Silent	SNP	ENST00000356958.4	37	c.1432C>A																																																																																					0.403	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		15	104	1	0	9.16793e-09	1	1.00168e-08	15	104					T	37643369	G	T	37643369	2	4	50	1	0	0	0	0	0	0	0	1	18032	1115	39	5		5	ZNF585A	19	37643369	Silent	SNP	G	TCGA-NF-A4WU-01A-11D-A28R-08		37643369	21485614	37	9312										
PJA1	64219	broad.mit.edu	37	chrX	68382933	68382933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	gcattgggacttcggagttcGtctttctctggctggcaatc	12	10	2	0	rs147196192		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrX:68382933G>A	ENST00000361478.1	-	2	526	c.149C>T	c.(148-150)aCg>aTg	p.T50M	PJA1_ENST00000374583.1_Missense_Mutation_p.T50M|PJA1_ENST00000374571.4_De_novo_Start_InFrame|PJA1_ENST00000374584.3_Missense_Mutation_p.T50M|PJA1_ENST00000477231.1_5'UTR	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	50					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TTCGGAGTTCGTCTTTCTCTG	0.537																																						ENST00000361478.1																			0				endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						c.(148-150)aCg>aTg		praja ring finger 1, E3 ubiquitin protein ligase		G	,MET/THR,MET/THR	0,3835		0,0,1632,571	222	196	204		,149,149	3.3	0.6	X	dbSNP_134	204	1,6727		0,1,2427,1872	no	utr-5,missense,missense	PJA1	NM_001032396.2,NM_022368.4,NM_145119.3	,81,81	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,probably-damaging,probably-damaging	,50/456,50/644	68382933	1,10562	2203	4300	6503	SO:0001583	missense	64219						zinc ion binding	g.chrX:68382933G>A	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"RING-type (C3HC4) zinc fingers"	16648	protein-coding gene	gene with protein product		300420	"praja 1", "praja ring finger 1"			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.149C>T	X.37:g.68382933G>A	ENSP00000355014:p.Thr50Met		Somatic				PJA1_ENST00000374571.4_De_novo_Start_InFrame|PJA1_ENST00000374583.1_Missense_Mutation_p.T50M|PJA1_ENST00000374584.3_Missense_Mutation_p.T50M|PJA1_ENST00000477231.1_5'UTR	p.T50M	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	WXS	Illumina GAIIx	Phase_I	Q8NG27	PJA1_HUMAN			2	526	-			50					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.149C>T	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	G	9.544	1.114228	0.20795	0.0	1.49E-4	ENSG00000181191	ENST00000374584;ENST00000374583;ENST00000361478	T;T;T	0.05855	3.39;3.38;3.38	3.3	3.3	0.37823	.	0.738070	0.11260	U	0.582628	T	0.14356	0.0347	L	0.36672	1.1	0.35740	D	0.818598	D;D	0.89917	1.0;0.999	D;D	0.81914	0.994;0.995	T	0.17992	-1.0351	10	0.87932	D	0	.	7.204	0.25897	0.0:0.0:0.7355:0.2645	.	50;50	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	M	50	ENSP00000363712:T50M;ENSP00000363711:T50M;ENSP00000355014:T50M	ENSP00000355014:T50M	T	-	2	0	PJA1	68299658	0.943000	0.32029	0.642000	0.29436	0.013000	0.08279	1.886000	0.39688	1.938000	0.56188	0.534000	0.68092	ACG		0.537	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		41	116	0	0	0	1	0	41	116					A	68382933	G	A	68382933	3	1	50	1	0	0	0	0	1	0	0	0	11970	1145	40	1	1786	1	PJA1	23	68382933	Missense_Mutation	SNP	G	TCGA-NF-A4WU-01A-11D-A28R-08		68382933	86887627	38	9313										
ESX1	80712	broad.mit.edu	37	chrX	103499131	103499131	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	ccaccctcacggtcttggtcGtccgaggggacggacccttc	12	16	2	0	rs376654393		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrX:103499131G>A	ENST00000372588.4	-	2	293	c.210C>T	c.(208-210)gaC>gaT	p.D70D		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	70					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)	p.D70D(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GGTCTTGGTCGTCCGAGGGGA	0.652																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			1	Substitution - coding silent(1)	p.D70D(1)	endometrium(1)	endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(208-210)gaC>gaT		ESX homeobox 1							108	108	108					X																	103499131		2203	4300	6503	SO:0001819	synonymous_variant	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103499131G>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.210C>T	X.37:g.103499131G>A			Somatic					p.D70D	NM_153448.3	NP_703149.1	WXS	Illumina GAIIx	Phase_I	Q8N693	ESX1_HUMAN			2	293	-			70					B0QYU3|Q7Z6K7	Silent	SNP	ENST00000372588.4	37	c.210C>T	CCDS14516.1																																																																																				0.652	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		6	244	0	0	0	1	0	6	244					A	103499131	G	A	103499131	2	1	50	1	0	0	0	0	0	0	0	1	5265	1136	40	1		1	ESX1	23	103499131	Silent	SNP	G	TCGA-NF-A4WU-01A-11D-A28R-08	35116198	103499131	51771429	39	9314										
FGF13	2258	broad.mit.edu	37	chrX	137717785	137717785	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.025	1	1	0.297739130434783	0	0.323629489603025	1	1	0	aataattttcaaacactgatTctttgaatttgcactcaggt	5	7	3	2			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrX:137717785T>A	ENST00000315930.6	-	4	1095	c.434A>T	c.(433-435)gAa>gTa	p.E145V	FGF13_ENST00000370603.3_Missense_Mutation_p.E155V|FGF13_ENST00000441825.2_Missense_Mutation_p.E126V|FGF13_ENST00000541469.1_Missense_Mutation_p.E99V|FGF13_ENST00000305414.4_Missense_Mutation_p.E92V	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	145	Mediates interaction with sodium channels.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					AAACACTGATTCTTTGAATTT	0.373																																						ENST00000315930.6																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24						c.(433-435)gAa>gTa		fibroblast growth factor 13							79	67	71					X																	137717785		2203	4300	6503	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137717785T>A	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"fibroblast growth factor homologous factor 2"	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.434A>T	X.37:g.137717785T>A	ENSP00000322390:p.Glu145Val		Somatic				FGF13_ENST00000541469.1_Missense_Mutation_p.E99V|FGF13_ENST00000441825.2_Missense_Mutation_p.E126V|FGF13_ENST00000370603.3_Missense_Mutation_p.E155V|FGF13_ENST00000305414.4_Missense_Mutation_p.E92V	p.E145V	NM_004114.3	NP_004105.1	WXS	Illumina GAIIx	Phase_I	Q92913	FGF13_HUMAN			4	1095	-	Acute lymphoblastic leukemia(192;0.000127)		145					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	c.434A>T	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.896149	0.91962	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198;ENST00000455663	T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.92093	0.7494	H	0.97131	3.945	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	0.94424	0.7643	10	0.87932	D	0	.	14.7713	0.69681	0.0:0.0:0.0:1.0	.	99;155;92;145	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	V	145;92;126;155;99;155;161	ENSP00000322390:E145V;ENSP00000303391:E92V;ENSP00000409276:E126V;ENSP00000359635:E155V;ENSP00000437903:E99V;ENSP00000396198:E155V;ENSP00000406916:E161V	ENSP00000303391:E92V	E	-	2	0	FGF13	137545451	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.088000	0.63022	0.486000	0.48141	GAA		0.373	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		14	35	0	0	0	1	0	14	35					A	137717785	T	A	137717785	3	1	50	1	0	0	0	0	1	0	0	0	5850	1783	62	4	311	4	FGF13	23	137717785	Missense_Mutation	SNP	T	TCGA-NF-A4WU-01A-11D-A28R-08	34218654	137717785	17552775	40	9315										
CPSF3L	54973	broad.mit.edu	37	chr1	1256383	1256383	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	ccaagggactcacgtcgtcaTtgaagcccatgtgcattcca	9	13	2	1	rs200408789		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr1:1256383T>C	ENST00000435064.1	-	2	201	c.119A>G	c.(118-120)aAt>aGt	p.N40S	CPSF3L_ENST00000545578.1_Missense_Mutation_p.N11S|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Missense_Mutation_p.N40S|CPSF3L_ENST00000450926.2_Missense_Mutation_p.N40S|CPSF3L_ENST00000540437.1_Missense_Mutation_p.N46S|RP5-890O3.9_ENST00000444968.1_RNA	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	40					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CACGTCGTCATTGAAGCCCAT	0.652																																						ENST00000540437.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(136-138)aAt>aGt		cleavage and polyadenylation specific factor 3-like							114	98	103					1																	1256383		2202	4300	6502	SO:0001583	missense	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1256383T>C	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.119A>G	1.37:g.1256383T>C	ENSP00000413493:p.Asn40Ser		Somatic				CPSF3L_ENST00000435064.1_Missense_Mutation_p.N40S|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000450926.2_Missense_Mutation_p.N40S|CPSF3L_ENST00000419704.1_Missense_Mutation_p.N40S|CPSF3L_ENST00000545578.1_Missense_Mutation_p.N11S	p.N46S	NM_001256456.1	NP_001243385.1	WXS	Illumina GAIIx	Phase_I	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	4	592	-	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)	40					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	c.137A>G	CCDS21.1	.	.	.	.	.	.	.	.	.	.	t	8.299	0.819410	0.16607	.	.	ENSG00000127054	ENST00000435064;ENST00000294579;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000527719;ENST00000530031;ENST00000534345;ENST00000498476	T;T;T;T;T;T;T;T;T;T	0.78924	0.99;0.99;0.99;0.99;-1.22;0.99;-1.22;-1.22;0.99;0.99	4.8	2.38	0.29361	Beta-lactamase-like (2);	0.209040	0.48286	N	0.000195	T	0.61540	0.2355	N	0.20881	0.62	0.58432	D	0.999998	B;B;B;B;B;B	0.26708	0.002;0.011;0.157;0.005;0.002;0.002	B;B;B;B;B;B	0.25987	0.005;0.023;0.065;0.007;0.021;0.008	T	0.50600	-0.8809	10	0.36615	T	0.2	-9.7204	8.3644	0.32378	0.0:0.1743:0.0:0.8257	.	40;40;59;40;46;40	Q5TA45-3;C9J979;Q5TA51;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	S	40;52;40;46;40;11;40;46;87;41;100	ENSP00000413493:N40S;ENSP00000404886:N40S;ENSP00000445001:N46S;ENSP00000392848:N40S;ENSP00000444672:N11S;ENSP00000411233:N40S;ENSP00000436743:N46S;ENSP00000432009:N87S;ENSP00000435772:N41S;ENSP00000436824:N100S	ENSP00000294579:N52S	N	-	2	0	CPSF3L	1246246	1.000000	0.71417	0.403000	0.26384	0.804000	0.45430	3.341000	0.52151	0.180000	0.19960	-0.424000	0.05967	AAT		0.652	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		27	64	0	0	0	1	0	27	64					C	1256383	T	C	1256383	3	2	51	1	0	0	0	0	1	0	0	0	3829	1493	52	4	1747	4	CPSF3L	1	1256383	Missense_Mutation	SNP	T	TCGA-NF-A4WX-01A-11D-A28R-08		1256383	247994238	1	9316										
CD1E	913	broad.mit.edu	37	chr1	158325665	158325665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	ccccagtcctggccctggccGtctgcagcttgtgtgccatg	12	16	1	0	rs202212296	byFrequency	TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr1:158325665G>A	ENST00000368167.3	+	4	913	c.674G>A	c.(673-675)cGt>cAt	p.R225H	CD1E_ENST00000444681.2_Missense_Mutation_p.R126H|CD1E_ENST00000368156.1_Missense_Mutation_p.R135H|CD1E_ENST00000452291.2_Missense_Mutation_p.R36H|CD1E_ENST00000368161.3_Missense_Mutation_p.R225H|CD1E_ENST00000368164.3_Missense_Mutation_p.R36H|CD1E_ENST00000368155.3_Missense_Mutation_p.R135H|CD1E_ENST00000368160.3_Missense_Mutation_p.R225H|CD1E_ENST00000368166.3_Missense_Mutation_p.R36H|CD1E_ENST00000368163.3_Missense_Mutation_p.R225H|CD1E_ENST00000368157.1_Missense_Mutation_p.R36H|CD1E_ENST00000434258.1_Missense_Mutation_p.R223H|CD1E_ENST00000368154.1_Missense_Mutation_p.R36H|CD1E_ENST00000368165.3_Missense_Mutation_p.R135H	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	225	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGCCCTGGCCGTCTGCAGCTT	0.592													g|||	3	0.000599042	8e-04	0	5008	,	,		16365	0.001		0	False		,,,				2504	0.001					ENST00000444681.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(376-378)cGt>cAt		CD1e molecule		A	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	13,4393	21.2+/-45.6	0,13,2190	51	52	51		674,674,674,107,107,404,404,107,107,107,377,404,674	-1.7	1	1		51	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	CD1E	NM_001042583.2,NM_001042584.2,NM_001042585.2,NM_001042586.2,NM_001042587.2,NM_001185107.1,NM_001185108.1,NM_001185110.1,NM_001185112.1,NM_001185113.1,NM_001185114.1,NM_001185115.1,NM_030893.3	29,29,29,29,29,29,29,29,29,29,29,29,29	0,13,6490	AA,AG,GG		0.0,0.2951,0.1	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	225/377,225/291,225/322,36/188,36/102,135/299,135/232,36/133,36/200,36/145,126/290,135/287,225/389	158325665	13,12993	2203	4300	6503	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325665G>A	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.674G>A	1.37:g.158325665G>A	ENSP00000357149:p.Arg225His		Somatic				CD1E_ENST00000434258.1_Missense_Mutation_p.R223H|CD1E_ENST00000368166.3_Missense_Mutation_p.R36H|CD1E_ENST00000368160.3_Missense_Mutation_p.R225H|CD1E_ENST00000368163.3_Missense_Mutation_p.R225H|CD1E_ENST00000368156.1_Missense_Mutation_p.R135H|CD1E_ENST00000368154.1_Missense_Mutation_p.R36H|CD1E_ENST00000368165.3_Missense_Mutation_p.R135H|CD1E_ENST00000368155.3_Missense_Mutation_p.R135H|CD1E_ENST00000368161.3_Missense_Mutation_p.R225H|CD1E_ENST00000368157.1_Missense_Mutation_p.R36H|CD1E_ENST00000368164.3_Missense_Mutation_p.R36H|CD1E_ENST00000368167.3_Missense_Mutation_p.R225H|CD1E_ENST00000452291.2_Missense_Mutation_p.R36H	p.R126H	NM_001185114.1	NP_001172043.1	WXS	Illumina GAIIx	Phase_I	P15812	CD1E_HUMAN			3	670	+	all_hematologic(112;0.0378)		225					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.377G>A	CCDS41417.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	10.84	1.462948	0.26248	0.002951	0.0	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368164;ENST00000368157;ENST00000368160;ENST00000368161;ENST00000368156;ENST00000368155;ENST00000368154	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46819	2.55;2.55;2.55;2.55;2.55;2.55;2.55;0.86;2.55;2.55;3.94;2.55;3.52;0.95	4.51	-1.71	0.08133	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (1);	0.429971	0.20186	N	0.097401	T	0.06645	0.0170	N	0.10972	0.075	0.21064	N	0.999796	B;B;B;B;B;P;B;B;B;B;B;B;B;B;B	0.37141	0.003;0.081;0.165;0.02;0.0;0.584;0.003;0.042;0.026;0.004;0.126;0.0;0.078;0.029;0.031	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.24541	0.008;0.014;0.014;0.003;0.002;0.054;0.001;0.018;0.012;0.002;0.017;0.001;0.029;0.006;0.008	T	0.38802	-0.9644	10	0.22706	T	0.39	-9.7394	8.3668	0.32391	0.5969:0.0:0.4031:0.0	.	36;126;223;126;135;135;36;36;225;225;225;36;36;135;225	B4E057;B4E042;E7ET31;E7EP01;P15812-5;P15812-7;P15812-9;P15812-10;P15812-2;P15812;P15812-3;P15812-8;P15812-11;P15812-6;P15812-4	.;.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.;.;.;.	H	223;126;225;36;135;36;225;36;36;225;225;135;135;36	ENSP00000401957:R223H;ENSP00000402906:R126H;ENSP00000357149:R225H;ENSP00000416228:R36H;ENSP00000357147:R135H;ENSP00000357148:R36H;ENSP00000357145:R225H;ENSP00000357146:R36H;ENSP00000357139:R36H;ENSP00000357142:R225H;ENSP00000357143:R225H;ENSP00000357138:R135H;ENSP00000357137:R135H;ENSP00000357136:R36H	ENSP00000357136:R36H	R	+	2	0	CD1E	156592289	0.000000	0.05858	0.971000	0.41717	0.724000	0.41520	-1.243000	0.02905	-0.182000	0.10602	-0.213000	0.12676	CGT		0.592	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		44	51	0	0	0	1	0	44	51					A	158325665	G	A	158325665	3	1	51	1	0	0	0	0	1	0	0	0	2980	1145	40	1	688	1	CD1E	1	158325665	Missense_Mutation	SNP	G	TCGA-NF-A4WX-01A-11D-A28R-08	157069282	158325665	90924956	2	9317										
KLHL20	27252	broad.mit.edu	37	chr1	173743491	173743491	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	tcgggtagcttctatgagtaCcagaagactaggtgtggctg	14	7	1	3			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr1:173743491C>G	ENST00000209884.4	+	9	1479	c.1343C>G	c.(1342-1344)aCc>aGc	p.T448S	KLHL20_ENST00000546011.1_Missense_Mutation_p.T259S	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	448					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						TCTATGAGTACCAGAAGACTA	0.488																																					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.(1342-1344)aCc>aGc		kelch-like family member 20							258	223	235					1																	173743491		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.chr1:173743491C>G	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.1343C>G	1.37:g.173743491C>G	ENSP00000209884:p.Thr448Ser		Somatic				KLHL20_ENST00000546011.1_Missense_Mutation_p.T259S	p.T448S	NM_014458.3	NP_055273.2	WXS	Illumina GAIIx	Phase_I	Q9Y2M5	KLH20_HUMAN			9	1479	+			448					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.1343C>G	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636750	0.67130	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.73047	-0.71;-0.22	5.27	5.27	0.74061	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.54838	0.1883	L	0.45422	1.42	0.80722	D	1	B;B	0.14805	0.009;0.011	B;B	0.19148	0.024;0.024	T	0.56517	-0.7966	10	0.54805	T	0.06	.	17.6701	0.88214	0.0:1.0:0.0:0.0	.	259;448	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	S	259;448	ENSP00000443121:T259S;ENSP00000209884:T448S	ENSP00000209884:T448S	T	+	2	0	KLHL20	172010114	1.000000	0.71417	0.971000	0.41717	0.988000	0.76386	7.592000	0.82676	2.456000	0.83038	0.655000	0.94253	ACC		0.488	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		6	210	0	0	0	1	0	6	210					G	173743491	C	G	173743491	3	3	51	1	0	0	0	0	1	0	0	0	8384	507	18	5	1373	5	KLHL20	1	173743491	Missense_Mutation	SNP	C	TCGA-NF-A4WX-01A-11D-A28R-08	15417826	173743491	75507130	3	9318										
TSNAX	7257	broad.mit.edu	37	chr1	231696874	231696874	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	tttctttgtcacgctttcagGactacaggaatatgtggaag	10	7	3	0			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr1:231696874G>T	ENST00000366639.4	+	5	526	c.368G>T	c.(367-369)gGa>gTa	p.G123V	TSNAX-DISC1_ENST00000602962.1_Splice_Site_p.G123V	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	123	Interaction with C1D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				ACGCTTTCAGGACTACAGGAA	0.279																																						ENST00000602962.1																			0											c.e5-1									50	54	53					1																	231696874		2202	4297	6499	SO:0001630	splice_region_variant	0							g.chr1:231696874G>T	X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.368-1G>T	1.37:g.231696874G>T			Somatic				TSNAX_ENST00000366639.4_Splice_Site_p.G123_splice	p.G123_splice			WXS	Illumina GAIIx	Phase_I					5	526	+								B1APC6	Splice_Site	SNP	ENST00000366639.4	37	c.367_splice	CCDS1596.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499436	0.85069	.	.	ENSG00000116918	ENST00000366639;ENST00000413309	.	.	.	5.56	5.56	0.83823	Translin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87277	0.6137	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89693	0.3899	8	.	.	.	.	19.8818	0.96901	0.0:0.0:1.0:0.0	.	123	Q99598	TSNAX_HUMAN	V	123;130	.	.	G	+	2	0	TSNAX	229763497	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.813000	0.91963	2.773000	0.95371	0.655000	0.94253	GGA		0.279	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095267.2	NM_005999	Missense_Mutation	14	9	1	0	7.93312e-07	1	8.35065e-07	14	9					T	231696874	G	T	231696874	5	4	51	1	0	0	0	0	0	0	1	0	16646	1188	41	2	386	2	TSNAX	1	231696874	Splice_Site	SNP	G	TCGA-NF-A4WX-01A-11D-A28R-08	57953383	231696874	17553747	4	9319										
DHX57	90957	broad.mit.edu	37	chr2	39050325	39050325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	gtaatcgtatttttgaggcaCgaagagaatcggtgtgtgga	14	4	0	2	rs146225438		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr2:39050325C>T	ENST00000295373.6	-	17	3227	c.3101G>A	c.(3100-3102)cGt>cAt	p.R1034H		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1034							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)				TTTTGAGGCACGAAGAGAATC	0.428																																					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.(3100-3102)cGt>cAt		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	92	92	92		3101	4.9	1	2	dbSNP_134	92	0,8600		0,0,4300	no	missense	DHX57	NM_198963.1	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	1034/1387	39050325	2,13004	2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39050325C>T	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3101G>A	2.37:g.39050325C>T	ENSP00000295373:p.Arg1034His		Somatic					p.R1034H	NM_198963.1	NP_945314.1	WXS	Illumina GAIIx	Phase_I	Q6P158	DHX57_HUMAN			17	3227	-		all_hematologic(82;0.248)	1034					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.3101G>A	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572644	0.45798	4.54E-4	0.0	ENSG00000163214	ENST00000295373	T	0.02631	4.22	5.76	4.88	0.63580	.	0.124701	0.36591	N	0.002505	T	0.02571	0.0078	N	0.25286	0.73	0.35171	D	0.771543	B;B	0.13145	0.007;0.003	B;B	0.08055	0.003;0.002	T	0.40646	-0.9552	10	0.42905	T	0.14	.	9.959	0.41684	0.0:0.7896:0.0:0.2104	.	1034;426	Q6P158;Q59G60	DHX57_HUMAN;.	H	1034	ENSP00000295373:R1034H	ENSP00000295373:R1034H	R	-	2	0	DHX57	38903829	0.957000	0.32711	0.993000	0.49108	0.968000	0.65278	1.941000	0.40233	1.426000	0.47256	0.655000	0.94253	CGT		0.428	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		17	42	0	0	0	1	0	17	42					T	39050325	C	T	39050325	3	4	51	1	0	0	0	0	1	0	0	0	4515	536	19	1	1091	1	DHX57	2	39050325	Missense_Mutation	SNP	C	TCGA-NF-A4WX-01A-11D-A28R-08		39050325	204149048	5	9320										
KYNU	8942	broad.mit.edu	37	chr2	143798178	143798178	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	ccagctaacaataacattttCtgttccaaacaaagatgttt	4	9	1	1			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr2:143798178C>T	ENST00000264170.4	+	13	1481	c.1223C>T	c.(1222-1224)tCt>tTt	p.S408F	KYNU_ENST00000409512.1_Missense_Mutation_p.S408F	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		ATAACATTTTCTGTTCCAAAC	0.408																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(1222-1224)tCt>tTt		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						56	52	54					2																	143798178		2203	4300	6503	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.chr2:143798178C>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.1223C>T	2.37:g.143798178C>T	ENSP00000264170:p.Ser408Phe		Somatic				KYNU_ENST00000409512.1_Missense_Mutation_p.S408F	p.S408F	NM_003937.2	NP_003928.1	WXS	Illumina GAIIx	Phase_I	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	13	1481	+			408						Missense_Mutation	SNP	ENST00000264170.4	37	c.1223C>T	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704761	0.48412	.	.	ENSG00000115919	ENST00000264170;ENST00000409512	T;T	0.55413	0.52;0.52	5.54	5.54	0.83059	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.318455	0.34603	N	0.003834	T	0.48502	0.1503	L	0.44542	1.39	0.80722	D	1	P	0.36438	0.553	B	0.33196	0.159	T	0.52147	-0.8614	10	0.59425	D	0.04	.	19.4692	0.94956	0.0:1.0:0.0:0.0	.	408	Q16719	KYNU_HUMAN	F	408	ENSP00000264170:S408F;ENSP00000386731:S408F	ENSP00000264170:S408F	S	+	2	0	KYNU	143514648	1.000000	0.71417	0.781000	0.31783	0.434000	0.31775	7.246000	0.78247	2.596000	0.87737	0.591000	0.81541	TCT		0.408	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		6	26	0	0	0	1	0	6	26					T	143798178	C	T	143798178	3	4	51	1	0	0	0	0	1	0	0	0	8596	913	32	3	1295	3	KYNU	2	143798178	Missense_Mutation	SNP	C	TCGA-NF-A4WX-01A-11D-A28R-08	104747853	143798178	99401195	6	9321										
PLA2R1	22925	broad.mit.edu	37	chr2	160807932	160807932	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	aaggactggtgatactggtcTgtgatgctgaccagttgtgc	14	7	1	3			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr2:160807932T>C	ENST00000283243.7	-	24	3665	c.3459A>G	c.(3457-3459)acA>acG	p.T1153T	PLA2R1_ENST00000392771.1_Silent_p.T1153T	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1153	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GATACTGGTCTGTGATGCTGA	0.433																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(3457-3459)acA>acG		phospholipase A2 receptor 1, 180kDa							253	233	240					2																	160807932		2203	4300	6503	SO:0001819	synonymous_variant	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160807932T>C	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.3459A>G	2.37:g.160807932T>C			Somatic				PLA2R1_ENST00000392771.1_Silent_p.T1153T	p.T1153T	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	WXS	Illumina GAIIx	Phase_I	Q13018	PLA2R_HUMAN			24	3665	-			1153			C-type lectin 7.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	c.3459A>G	CCDS33309.1																																																																																				0.433	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			17	31	0	0	0	1	0	17	31					C	160807932	T	C	160807932	2	2	51	1	0	0	0	0	0	0	0	1	12019	1567	55	4		4	PLA2R1	2	160807932	Silent	SNP	T	TCGA-NF-A4WX-01A-11D-A28R-08	17009754	160807932	82391441	7	9322										
CX3CR1	1524	broad.mit.edu	37	chr3	39307306	39307306	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	cgatgaccaccagaaggatcAgtttaatggctttggctttc	10	9	1	2			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr3:39307306A>C	ENST00000541347.1	-	2	934	c.695T>G	c.(694-696)cTg>cGg	p.L232R	CX3CR1_ENST00000358309.3_Missense_Mutation_p.L264R|CX3CR1_ENST00000399220.2_Missense_Mutation_p.L232R|CX3CR1_ENST00000542107.1_Missense_Mutation_p.L232R	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	232					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CAGAAGGATCAGTTTAATGGC	0.448																																						ENST00000541347.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(694-696)cTg>cGg		chemokine (C-X3-C motif) receptor 1							111	118	115					3																	39307306		1942	4140	6082	SO:0001583	missense	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307306A>C	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"GPCR / Class A : Chemokine receptors : C-X-3-C motif"	2558	protein-coding gene	gene with protein product		601470	"chemokine (C-X3-C) receptor 1"	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.695T>G	3.37:g.39307306A>C	ENSP00000439140:p.Leu232Arg		Somatic				CX3CR1_ENST00000358309.3_Missense_Mutation_p.L264R|CX3CR1_ENST00000542107.1_Missense_Mutation_p.L232R|CX3CR1_ENST00000399220.2_Missense_Mutation_p.L232R	p.L232R	NM_001171171.1	NP_001164642.1	WXS	Illumina GAIIx	Phase_I	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	934	-			232					A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	c.695T>G	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.885242	0.72410	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.69333	0.3099	M	0.86573	2.825	0.51012	D	0.9999	D	0.89917	1.0	D	0.85130	0.997	T	0.75502	-0.3295	10	0.87932	D	0	.	14.9109	0.70755	1.0:0.0:0.0:0.0	.	232	P49238	CX3C1_HUMAN	R	232;240;264;232;232	ENSP00000382166:L232R;ENSP00000351059:L264R;ENSP00000439140:L232R;ENSP00000444928:L232R	ENSP00000351059:L264R	L	-	2	0	CX3CR1	39282310	0.999000	0.42202	0.213000	0.23690	0.724000	0.41520	9.265000	0.95647	2.200000	0.70718	0.533000	0.62120	CTG		0.448	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		5	61	0	0	0	1	0	5	61					C	39307306	A	C	39307306	3	2	51	1	0	0	0	0	1	0	0	0	4077	188	7	4	376	4	CX3CR1	3	39307306	Missense_Mutation	SNP	A	TCGA-NF-A4WX-01A-11D-A28R-08		39307306	158715124	8	9323										
COL6A6	131873	broad.mit.edu	37	chr3	130383937	130383937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	gcagcccccacgaccattccGaaggtactgtctgtttggtg	11	13	1	0	rs202169366		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr3:130383937G>A	ENST00000358511.6	+	35	6624	c.6593G>A	c.(6592-6594)cGa>cAa	p.R2198Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R2198Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2198	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular 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						CGACCATTCCGAAGGTACTGT	0.413																																						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.(6592-6594)cGa>cAa		collagen, type VI, alpha 6							60	55	57					3																	130383937		1852	4091	5943	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130383937G>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.6593G>A	3.37:g.130383937G>A	ENSP00000351310:p.Arg2198Gln		Somatic				COL6A6_ENST00000453409.2_Missense_Mutation_p.R2198Q	p.R2198Q	NM_001102608.1	NP_001096078.1	WXS	Illumina GAIIx	Phase_I	A6NMZ7	CO6A6_HUMAN			35	6624	+			2198			Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.6593G>A	CCDS46911.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.44	1.350385	0.24512	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.89343	-2.48;-2.5	4.83	-7.64	0.01286	.	.	.	.	.	T	0.74831	0.3768	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.007;0.005	B;B	0.06405	0.001;0.002	T	0.57452	-0.7809	9	0.20046	T	0.44	.	16.5947	0.84792	0.8274:0.0:0.1726:0.0	.	2198;2198	A6NMZ7;F8W6Y7	CO6A6_HUMAN;.	Q	2198	ENSP00000351310:R2198Q;ENSP00000399236:R2198Q	ENSP00000351310:R2198Q	R	+	2	0	COL6A6	131866627	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.350000	0.02624	-1.785000	0.01271	-1.022000	0.02435	CGA		0.413	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		4	5	0	0	0	1	0	4	5					A	130383937	G	A	130383937	3	1	51	1	0	0	0	0	1	0	0	0	3705	1058	37	1	6731	1	COL6A6	3	130383937	Missense_Mutation	SNP	G	TCGA-NF-A4WX-01A-11D-A28R-08	91076631	130383937	67638493	9	9324										
FBXW7	55294	broad.mit.edu	37	chr4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	ttcatgaagatgcatacaacGcacagtggaagtatgcccat	9	9	1	2			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		99	Substitution - Missense(98)|Unknown(1)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(41)|large_intestine(27)|endometrium(20)|stomach(6)|biliary_tract(4)|pancreas(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1393-1395)Cgt>Tgt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							260	223	235					4																	153249385		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249385G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1393C>T	4.37:g.153249385G>A	ENSP00000281708:p.Arg465Cys		Somatic				FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C	p.R465C	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			9	2622	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	465		R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1393C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909959	0.92107	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.05	6.05	0.98169	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	0.67287	0.2877	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.67130	-0.5748	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:0.0:1.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	465;347;385;289	ENSP00000281708:R465C;ENSP00000296555:R347C;ENSP00000263981:R385C;ENSP00000377528:R289C	ENSP00000263981:R385C	R	-	1	0	FBXW7	153468835	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CGT		0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			58	32	0	0	0	1	0	58	32					A	153249385	G	A	153249385	3	1	51	1	0	0	0	0	1	0	0	0	5777	1087	38	1	746	1	FBXW7	4	153249385	Missense_Mutation	SNP	G	TCGA-NF-A4WX-01A-11D-A28R-08		153249385	37904891	10	9325										
ACCN5	51802	broad.mit.edu	37	chr4	156784847	156784847	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	gtcatggtcaaacttctttcGctcagtgggagatggcagtg	13	8	4	1	rs138414327		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr4:156784847G>A	ENST00000537611.2	-	2	146	c.100C>T	c.(100-102)Cga>Tga	p.R34*	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	34					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)										AACTTCTTTCGCTCAGTGGGA	0.403													G|||	1	0.000199681	0	0	5008	,	,		17437	0.001		0	False		,,,				2504	0					ENST00000537611.2																			0											c.(100-102)Cga>Tga		acid-sensing (proton-gated) ion channel family member 5		G	stop/ARG	0,4406		0,0,2203	116	115	115		100	2.4	0.1	4	dbSNP_134	115	4,8596	3.7+/-12.6	0,4,4296	yes	stop-gained	ACCN5	NM_017419.2		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		34/506	156784847	4,13002	2203	4300	6503	SO:0001587	stop_gained	51802					integral to membrane|plasma membrane		g.chr4:156784847G>A	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.100C>T	4.37:g.156784847G>A	ENSP00000442477:p.Arg34*		Somatic				TDO2_ENST00000506181.1_Intron	p.R34*	NM_017419.2	NP_059115.1	WXS	Illumina GAIIx	Phase_I	Q9NY37	ACCN5_HUMAN			2	146	-			34						Nonsense_Mutation	SNP	ENST00000537611.2	37	c.100C>T	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705381	0.30232	0.0	4.65E-4	ENSG00000256394	ENST00000537611	.	.	.	4.34	2.39	0.29439	.	0.123991	0.31797	N	0.007052	.	.	.	.	.	.	0.27276	N	0.958229	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-10.2469	10.8952	0.47019	0.0:0.0:0.406:0.594	.	.	.	.	X	34	.	ENSP00000264432:R34X	R	-	1	2	ACCN5	157004297	0.921000	0.31238	0.098000	0.21074	0.020000	0.10135	1.266000	0.33039	1.122000	0.41944	-0.188000	0.12872	CGA		0.403	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			11	34	0	0	0	1	0	11	34					A	156784847	G	A	156784847	4	1	51	1	0	0	0	0	0	1	0	0	132	1095	38	1	1453	1	ACCN5	4	156784847	Nonsense_Mutation	SNP	G	TCGA-NF-A4WX-01A-11D-A28R-08	3535462	156784847	34369429	11	9326										
SPCS3	60559	broad.mit.edu	37	chr4	177241254	177241254	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	acggtgctgtcgcgggcgaaCtcactgttcgccttctcgct	12	14	2	0			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr4:177241254C>G	ENST00000503362.1	+	1	140	c.27C>G	c.(25-27)aaC>aaG	p.N9K	RP11-87F15.2_ENST00000512634.1_RNA	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		CGCGGGCGAACTCACTGTTCG	0.672																																						ENST00000503362.1																			0				ovary(2)	2						c.(25-27)aaC>aaG		signal peptidase complex subunit 3 homolog (S. cerevisiae)							86	99	95					4																	177241254		2100	4208	6308	SO:0001583	missense	60559				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity	g.chr4:177241254C>G	AK092634	CCDS54823.1	4q34.2	2008-02-05				ENSG00000129128			26212	protein-coding gene	gene with protein product						12477932	Standard	NM_021928		Approved	FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567	uc003iur.4	P61009		ENST00000503362.1:c.27C>G	4.37:g.177241254C>G	ENSP00000427463:p.Asn9Lys		Somatic				RP11-87F15.2_ENST00000512634.1_RNA	p.N9K	NM_021928.3	NP_068747.1	WXS	Illumina GAIIx	Phase_I	P61009	SPCS3_HUMAN		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)	1	140	+		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	9					P12280|Q9H0S7	Missense_Mutation	SNP	ENST00000503362.1	37	c.27C>G	CCDS54823.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560612	0.45590	.	.	ENSG00000129128	ENST00000503362	.	.	.	3.09	1.24	0.21308	.	0.000000	0.85682	D	0.000000	T	0.76543	0.4002	M	0.87269	2.87	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.73026	-0.4112	9	0.56958	D	0.05	-5.1647	6.1387	0.20247	0.0:0.5325:0.0:0.4675	.	9	P61009	SPCS3_HUMAN	K	9	.	ENSP00000427463:N9K	N	+	3	2	SPCS3	177478248	0.998000	0.40836	0.999000	0.59377	0.299000	0.27559	0.473000	0.22132	0.117000	0.18138	0.305000	0.20034	AAC		0.672	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362329.1	NM_021928		52	67	0	0	0	1	0	52	67					G	177241254	C	G	177241254	3	3	51	1	0	0	0	0	1	0	0	0	15040	564	20	5	29	5	SPCS3	4	177241254	Missense_Mutation	SNP	C	TCGA-NF-A4WX-01A-11D-A28R-08	20456407	177241254	13913022	12	9327										
MARCH6	10299	broad.mit.edu	37	chr5	10403623	10403623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	ggaatggtatatgtcttctaCtttgcctccttcattctact	6	10	4	0			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr5:10403623C>T	ENST00000274140.5	+	15	1434	c.1302C>T	c.(1300-1302)taC>taT	p.Y434Y	MARCH6_ENST00000510792.1_Silent_p.Y132Y|MARCH6_ENST00000503788.1_Silent_p.Y329Y|MARCH6_ENST00000449913.2_Silent_p.Y386Y	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	434					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ATGTCTTCTACTTTGCCTCCT	0.428																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(1300-1302)taC>taT		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							168	148	155					5																	10403623		2203	4300	6503	SO:0001819	synonymous_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10403623C>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1302C>T	5.37:g.10403623C>T			Somatic				MARCH6_ENST00000503788.1_Silent_p.Y329Y|MARCH6_ENST00000510792.1_Silent_p.Y132Y|MARCH6_ENST00000449913.2_Silent_p.Y386Y	p.Y434Y	NM_005885.2	NP_005876.2	WXS	Illumina GAIIx	Phase_I	O60337	MARH6_HUMAN			15	1434	+			434					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	ENST00000274140.5	37	c.1302C>T	CCDS34135.1																																																																																				0.428	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		34	26	0	0	0	1	0	34	26					T	10403623	C	T	10403623	2	4	51	1	0	0	0	0	0	0	0	1	9314	576	20	3		3	MARCH6	5	10403623	Silent	SNP	C	TCGA-NF-A4WX-01A-11D-A28R-08		10403623	170511637	13	9328										
PCDHA1	56147	broad.mit.edu	37	chr5	140166141	140166141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	cattttgtttgtgaattctcGgatcgatcgcgaggagctgt	12	7	1	1			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr5:140166141G>A	ENST00000504120.2	+	1	266	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	PCDHA1_ENST00000394633.3_Missense_Mutation_p.R89Q|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R89Q	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAATTCTCGGATCGATCGC	0.582																																						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.(265-267)cGg>cAg									88	94	92					5																	140166141		2203	4300	6503	SO:0001583	missense	0							g.chr5:140166141G>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.266G>A	5.37:g.140166141G>A	ENSP00000420840:p.Arg89Gln		Somatic				PCDHA1_ENST00000378133.3_Missense_Mutation_p.R89Q|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R89Q	p.R89Q	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	266	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.266G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	15.08	2.728054	0.48833	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.34859	1.34;1.34;1.34	4.31	3.44	0.39384	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.205916	0.24267	U	0.040029	T	0.58949	0.2158	M	0.91872	3.25	0.21719	N	0.999571	D;D;D	0.65815	0.995;0.984;0.982	P;P;P	0.59012	0.85;0.697;0.766	T	0.55554	-0.8123	10	0.87932	D	0	.	7.7599	0.28946	0.0846:0.0:0.7556:0.1598	.	89;89;89	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	Q	89	ENSP00000420840:R89Q;ENSP00000378129:R89Q;ENSP00000367373:R89Q	ENSP00000367373:R89Q	R	+	2	0	PCDHA1	140146325	0.792000	0.28813	1.000000	0.80357	0.329000	0.28539	1.737000	0.38197	0.947000	0.37659	-0.143000	0.13931	CGG		0.582	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		4	152	0	0	0	1	0	4	152					A	140166141	G	A	140166141	3	1	51	1	0	0	0	0	1	0	0	0	11528	1116	39	1	268	1	PCDHA1	5	140166141	Missense_Mutation	SNP	G	TCGA-NF-A4WX-01A-11D-A28R-08	129762518	140166141	40749119	14	9329										
HFE	3077	broad.mit.edu	37	chr6	26091203	26091203	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	agagtcgccgtgtggagcccCgaactccatgggtttccagt	13	12	0	1			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr6:26091203C>T	ENST00000357618.5	+	2	333	c.211C>T	c.(211-213)Cga>Tga	p.R71*	HFE_ENST00000309234.6_Nonsense_Mutation_p.R71*|HFE_ENST00000353147.5_Intron|HFE_ENST00000336625.8_Nonsense_Mutation_p.R71*|HFE_ENST00000461397.1_Nonsense_Mutation_p.R71*|HFE_ENST00000397022.3_Nonsense_Mutation_p.R48*|HFE_ENST00000470149.1_Nonsense_Mutation_p.R71*|HFE_ENST00000317896.7_Nonsense_Mutation_p.R71*|HFE_ENST00000349999.4_Intron|HFE_ENST00000488199.1_Intron|HFE_ENST00000352392.4_Intron	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	71	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)	p.R71R(1)		endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTGGAGCCCCGAACTCCATG	0.512									Hemochromatosis																													ENST00000357618.5																			1	Substitution - coding silent(1)	p.R71R(1)	lung(1)	endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	GRCh37	CM020721	HFE	M		c.(211-213)Cga>Tga		hemochromatosis							109	104	105					6																	26091203		2203	4300	6503	SO:0001587	stop_gained	3077	Hemochromatosis	Familial Cancer Database		antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding	g.chr6:26091203C>T		CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"Immunoglobulin superfamily / C1-set domain containing"	4886	protein-coding gene	gene with protein product	"high Fe"	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.211C>T	6.37:g.26091203C>T	ENSP00000417404:p.Arg71*		Somatic				HFE_ENST00000317896.7_Nonsense_Mutation_p.R71*|HFE_ENST00000461397.1_Nonsense_Mutation_p.R71*|HFE_ENST00000309234.6_Nonsense_Mutation_p.R71*|HFE_ENST00000470149.1_Nonsense_Mutation_p.R71*|HFE_ENST00000336625.8_Nonsense_Mutation_p.R71*|HFE_ENST00000349999.4_Intron|HFE_ENST00000397022.3_Nonsense_Mutation_p.R48*|HFE_ENST00000488199.1_Intron|HFE_ENST00000352392.4_Intron|HFE_ENST00000353147.5_Intron	p.R71*	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	WXS	Illumina GAIIx	Phase_I	Q30201	HFE_HUMAN			2	333	+			71			Alpha-1.		B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Nonsense_Mutation	SNP	ENST00000357618.5	37	c.211C>T	CCDS4578.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811561	0.70797	.	.	ENSG00000010704	ENST00000397022;ENST00000317896;ENST00000535098;ENST00000357618;ENST00000470149;ENST00000336625;ENST00000461397;ENST00000309234	.	.	.	5.3	2.36	0.29203	.	0.427116	0.19838	N	0.104922	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.232	0.20740	0.3034:0.606:0.0:0.0906	.	.	.	.	X	48;71;71;71;71;71;71;71	.	ENSP00000311698:R71X	R	+	1	2	HFE	26199182	0.022000	0.18835	0.003000	0.11579	0.315000	0.28087	0.080000	0.14802	0.724000	0.32296	0.655000	0.94253	CGA		0.512	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1			46	57	0	0	0	1	0	46	57					T	26091203	C	T	26091203	4	4	51	1	0	0	0	0	0	1	0	0	7090	644	23	1	217	1	HFE	6	26091203	Nonsense_Mutation	SNP	C	TCGA-NF-A4WX-01A-11D-A28R-08		26091203	145023864	15	9330										
USP49	25862	broad.mit.edu	37	chr6	41774205	41774205	+	Frame_Shift_Del	DEL	G	G	-													0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	ctccagggcctcctcctgccGccgctgctccagcttcgcct							TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr6:41774205delG	ENST00000394253.3	-	3	846	c.517delC	c.(517-519)cggfs	p.R173fs	USP49_ENST00000373006.1_Frame_Shift_Del_p.R173fs|USP49_ENST00000373010.1_Frame_Shift_Del_p.R173fs|USP49_ENST00000297229.2_Frame_Shift_Del_p.R173fs|USP49_ENST00000373009.3_Frame_Shift_Del_p.R173fs			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	173					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTCCTGCCGCCGCTGCTCC	0.731																																						ENST00000394253.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(517-519)ggfs		ubiquitin specific peptidase 49							9	10	10					6																	41774205		2114	4154	6268	SO:0001589	frameshift_variant	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41774205delG	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.517delC	6.37:g.41774205delG	ENSP00000377797:p.Arg173fs		Somatic				USP49_ENST00000373009.3_Frame_Shift_Del_p.R173fs|USP49_ENST00000373006.1_Frame_Shift_Del_p.R173fs|USP49_ENST00000373010.1_Frame_Shift_Del_p.R173fs|USP49_ENST00000297229.2_Frame_Shift_Del_p.R173fs	p.R173fs			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	846	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		173					Q5T3D9|Q5T3E0|Q96CK4	Frame_Shift_Del	DEL	ENST00000394253.3	37	c.517delC																																																																																					0.731	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		11	10						11	10	---	---	---	---	-	41774205	G	-	41774205	7	5	51	1	0	1	0	1	0	0	0	0	17095	1086	38	0	1421	0	USP49	6	41774205	Frame_Shift_Del	DEL	G	TCGA-NF-A4WX-01A-11D-A28R-08	15683002	41774205	129340862	16	9331										
WIPF3	644150	broad.mit.edu	37	chr7	29923822	29923822	+	Frame_Shift_Del	DEL	C	C	-													0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	ccccaacgccacccccgctgCccccggcctcggttcttagt					rs565199901		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr7:29923822delC	ENST00000409290.1	+	4	712	c.712delC	c.(712-714)cccfs	p.P239fs	WIPF3_ENST00000409123.1_Frame_Shift_Del_p.P239fs|WIPF3_ENST00000242140.5_Frame_Shift_Del_p.P239fs	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	239	Poly-Pro.				cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						acccccgctgcccccggcctc	0.706																																						ENST00000409290.1																			0				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						c.(712-714)ccfs		WAS/WASL interacting protein family, member 3							2	2	2					7																	29923822		1322	3199	4521	SO:0001589	frameshift_variant	644150							g.chr7:29923822delC	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.712delC	7.37:g.29923822delC	ENSP00000386878:p.Pro239fs		Somatic				WIPF3_ENST00000242140.5_Frame_Shift_Del_p.P239fs|WIPF3_ENST00000409123.1_Frame_Shift_Del_p.P239fs	p.P239fs	NM_001080529.2	NP_001073998.2	WXS	Illumina GAIIx	Phase_I	B8ZZV2	B8ZZV2_HUMAN			4	712	+			239					B8ZZV2	Frame_Shift_Del	DEL	ENST00000409290.1	37	c.712delC	CCDS56472.1																																																																																				0.706	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			2	4						2	4	---	---	---	---	-	29923822	C	-	29923822	7	5	51	1	0	1	0	1	0	0	0	0	17384	739	26	0	726	0	WIPF3	7	29923822	Frame_Shift_Del	DEL	C	TCGA-NF-A4WX-01A-11D-A28R-08		29923822	129214841	17	9332										
ZNF716	441234	broad.mit.edu	37	chr7	57528634	57528634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	gtcagctacccaaaacaaaaCatttcagactcataaatgcg	5	11	3	1			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr7:57528634C>T	ENST00000420713.1	+	4	579	c.467C>T	c.(466-468)aCa>aTa	p.T156I		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	156					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						CAAAACAAAACATTTCAGACT	0.323																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(466-468)aCa>aTa		zinc finger protein 716							160	148	152					7																	57528634		692	1591	2283	SO:0001583	missense	441234							g.chr7:57528634C>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.467C>T	7.37:g.57528634C>T	ENSP00000394248:p.Thr156Ile		Somatic					p.T156I	NM_001159279.1	NP_001152751.1	WXS	Illumina GAIIx	Phase_I					4	579	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.467C>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.250112	0.00022	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.05258	3.47	0.195	-0.39	0.12450	.	.	.	.	.	T	0.01661	0.0053	N	0.01209	-0.955	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39742	-0.9599	9	0.02654	T	1	.	5.3779	0.16176	0.0:0.2898:0.0:0.7102	.	144	A6NP11	ZN716_HUMAN	I	156;144	ENSP00000394248:T156I	ENSP00000387687:T144I	T	+	2	0	ZNF716	57532576	0.135000	0.22499	0.077000	0.20336	0.075000	0.17131	0.746000	0.26275	-2.512000	0.00503	-2.534000	0.00181	ACA		0.323	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		4	24	0	0	0	1	0	4	24					T	57528634	C	T	57528634	3	4	51	1	0	0	0	0	1	0	0	0	18134	478	17	3	481	3	ZNF716	7	57528634	Missense_Mutation	SNP	C	TCGA-NF-A4WX-01A-11D-A28R-08	27604812	57528634	101610029	18	9333										
RNF32	140545	broad.mit.edu	37	chr7	156447342	156447342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	atgggagaaggtgaaacagcGctctctcctgcaaggggact	14	9	1	2	rs554840615		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr7:156447342G>A	ENST00000405335.1	+	5	756	c.347G>A	c.(346-348)cGc>cAc	p.R116H	AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000432459.2_Missense_Mutation_p.R116H|RNF32_ENST00000392743.2_Missense_Mutation_p.R116H|RNF32_ENST00000317955.5_Missense_Mutation_p.R116H|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000343665.4_Missense_Mutation_p.R116H|RNF32_ENST00000392741.2_Missense_Mutation_p.R116H|RNF32_ENST00000311822.8_Missense_Mutation_p.R116H			Q9H0A6	RNF32_HUMAN	ring finger protein 32	116						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GTGAAACAGCGCTCTCTCCTG	0.527													G|||	1	0.000199681	0	0	5008	,	,		19272	0		0	False		,,,				2504	0.001					ENST00000392741.2																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(346-348)cGc>cAc		ring finger protein 32							115	92	100					7																	156447342		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156447342G>A		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"RING-type (C3HC4) zinc fingers"	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.347G>A	7.37:g.156447342G>A	ENSP00000385285:p.Arg116His		Somatic				RNF32_ENST00000392743.2_Missense_Mutation_p.R116H|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000343665.4_Missense_Mutation_p.R116H|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000317955.5_Missense_Mutation_p.R116H|RNF32_ENST00000432459.2_Missense_Mutation_p.R116H|RNF32_ENST00000311822.8_Missense_Mutation_p.R116H|RNF32_ENST00000405335.1_Missense_Mutation_p.R116H	p.R116H			WXS	Illumina GAIIx	Phase_I	Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	3	435	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	116					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.347G>A	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927471	0.73327	.	.	ENSG00000105982	ENST00000404282;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665	D;D;D;D;D;D;D;T	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;1.76	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.95903	0.8666	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	P;D;D;P	0.65010	0.809;0.931;0.923;0.855	D	0.95832	0.8859	10	0.54805	T	0.06	-10.9341	18.6687	0.91502	0.0:0.0:1.0:0.0	.	116;116;116;116	Q9H0A6-4;G5E940;Q9H0A6-2;Q9H0A6	.;.;.;RNF32_HUMAN	H	116	ENSP00000385815:R116H;ENSP00000405588:R116H;ENSP00000315950:R116H;ENSP00000385285:R116H;ENSP00000308894:R116H;ENSP00000376499:R116H;ENSP00000376497:R116H;ENSP00000341185:R116H	ENSP00000308894:R116H	R	+	2	0	RNF32	156140103	1.000000	0.71417	0.641000	0.29422	0.039000	0.13416	7.472000	0.80996	2.505000	0.84491	0.655000	0.94253	CGC		0.527	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		6	50	0	0	0	1	0	6	50					A	156447342	G	A	156447342	3	1	51	1	0	0	0	0	1	0	0	0	13503	1087	38	1	357	1	RNF32	7	156447342	Missense_Mutation	SNP	G	TCGA-NF-A4WX-01A-11D-A28R-08	98918708	156447342	2691321	19	9334										
NAT2	10	broad.mit.edu	37	chr8	18258041	18258041	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	attacaaacaaagaatttctTaattctcatctcctgccaaa	2	10	3	1			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr8:18258041T>A	ENST00000286479.3	+	2	635	c.528T>A	c.(526-528)ctT>ctA	p.L176L	NAT2_ENST00000520116.1_Silent_p.L46L	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	176					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	AAGAATTTCTTAATTCTCATC	0.383									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000286479.3																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12						c.(526-528)ctT>ctA		N-acetyltransferase 2 (arylamine N-acetyltransferase)							55	59	58					8																	18258041		2199	4300	6499	SO:0001819	synonymous_variant	10	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18258041T>A	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.528T>A	8.37:g.18258041T>A			Somatic				NAT2_ENST00000520116.1_Silent_p.L46L	p.L176L	NM_000015.2	NP_000006.2	WXS	Illumina GAIIx	Phase_I	P11245	ARY2_HUMAN		Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	2	635	+			176					O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Silent	SNP	ENST00000286479.3	37	c.528T>A	CCDS6008.1																																																																																				0.383	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		7	54	0	0	0	1	0	7	54					A	18258041	T	A	18258041	2	1	51	1	0	0	0	0	0	0	0	1	10186	1741	61	4		4	NAT2	8	18258041	Silent	SNP	T	TCGA-NF-A4WX-01A-11D-A28R-08		18258041	128105981	20	9335										
VPS13B	157680	broad.mit.edu	37	chr8	100287482	100287482	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	ttgactactgccacaattccGgtaagtacaaacctatcatt	5	11	1	1	rs370336663		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr8:100287482G>T	ENST00000358544.2	+	19	2935	c.2824G>T	c.(2824-2826)Ggt>Tgt	p.G942C	VPS13B_ENST00000357162.2_Splice_Site_p.G942C|VPS13B_ENST00000395996.1_Splice_Site_p.G942C	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	942					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)			CCACAATTCCGGTAAGTACAA	0.333																																					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.e19+1		vacuolar protein sorting 13 homolog B (yeast)							125	128	127					8																	100287482		2203	4300	6503	SO:0001630	splice_region_variant	157680				protein transport			g.chr8:100287482G>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.2824+1G>T	8.37:g.100287482G>T			Somatic				VPS13B_ENST00000357162.2_Splice_Site_p.G942_splice|VPS13B_ENST00000358544.2_Splice_Site_p.G942_splice	p.G942_splice			WXS	Illumina GAIIx	Phase_I	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		19	2935	+	Breast(36;3.73e-07)		942					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Splice_Site	SNP	ENST00000358544.2	37	c.2824_splice	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593692	0.66219	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.76186	-1.0;-0.99;-0.69	5.43	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.79557	0.4466	L	0.32530	0.975	0.58432	D	0.999995	D;D;D;P	0.89917	1.0;1.0;1.0;0.927	D;D;D;P	0.97110	0.999;0.998;1.0;0.514	T	0.80562	-0.1327	10	0.52906	T	0.07	.	14.3738	0.66860	0.0719:0.0:0.9281:0.0	.	942;942;942;942	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	C	942	ENSP00000349685:G942C;ENSP00000351346:G942C;ENSP00000379318:G942C	ENSP00000349685:G942C	G	+	1	0	VPS13B	100356658	1.000000	0.71417	0.528000	0.27938	0.284000	0.27059	6.064000	0.71169	1.285000	0.44548	-0.216000	0.12614	GGT		0.333	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	Missense_Mutation	17	71	1	0	4.7546e-09	1	5.18684e-09	17	71					T	100287482	G	T	100287482	5	4	51	1	0	0	0	0	0	0	1	0	17205	1130	39	5	3017	5	VPS13B	8	100287482	Splice_Site	SNP	G	TCGA-NF-A4WX-01A-11D-A28R-08	82029441	100287482	46076540	21	9336										
MTBP	27085	broad.mit.edu	37	chr8	121531025	121531025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	gtttcactgcatgcagccagCgtctctttgaaatctctaag	8	11	3	1			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr8:121531025C>T	ENST00000305949.1	+	20	2623	c.2578C>T	c.(2578-2580)Cgt>Tgt	p.R860C		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	860	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)			ATGCAGCCAGCGTCTCTTTGA	0.353																																						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.(2578-2580)Cgt>Tgt		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							140	130	133					8																	121531025		2203	4300	6503	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121531025C>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.2578C>T	8.37:g.121531025C>T	ENSP00000303398:p.Arg860Cys		Somatic					p.R860C	NM_022045.3	NP_071328.2	WXS	Illumina GAIIx	Phase_I	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		20	2623	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		860			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.2578C>T	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871706	0.72065	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.8	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.77818	0.4187	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79694	-0.1696	9	0.87932	D	0	-16.6482	13.6319	0.62200	0.4201:0.5799:0.0:0.0	.	860	Q96DY7	MTBP_HUMAN	C	860	.	ENSP00000303398:R860C	R	+	1	0	MTBP	121600206	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	2.183000	0.42565	0.724000	0.32296	0.650000	0.86243	CGT		0.353	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		37	14	0	0	0	1	0	37	14					T	121531025	C	T	121531025	3	4	51	1	0	0	0	0	1	0	0	0	9921	768	27	1	2656	1	MTBP	8	121531025	Missense_Mutation	SNP	C	TCGA-NF-A4WX-01A-11D-A28R-08	21243543	121531025	24832997	22	9337										
WAC	51322	broad.mit.edu	37	chr10	28822965	28822965	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	ggactcgcagccttaccaggTaccagccgaggccggggtgg	16	13	0	0			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr10:28822965T>A	ENST00000354911.4	+	2	239		c.e2+2		WAC-AS1_ENST00000527986.1_RNA|WAC_ENST00000532233.1_Splice_Site|WAC_ENST00000347934.4_Splice_Site|WAC_ENST00000375664.4_Splice_Site|WAC_ENST00000428935.1_Splice_Site|WAC_ENST00000375646.1_Splice_Site|WAC-AS1_ENST00000528337.1_RNA	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						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						CCTTACCAGGTACCAGCCGAG	0.662																																						ENST00000375664.3																			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.e2+2		WW domain containing adaptor with coiled-coil							23	28	27					10																	28822965		2200	4294	6494	SO:0001630	splice_region_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.chr10:28822965T>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.78+2T>A	10.37:g.28822965T>A			Somatic				WAC_ENST00000532233.1_Splice_Site|WAC_ENST00000354911.4_Splice_Site|WAC_ENST00000347934.4_Splice_Site|WAC_ENST00000375646.1_Splice_Site|WAC_ENST00000428935.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9BTA9	WAC_HUMAN			2	552	+								A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Splice_Site	SNP	ENST00000354911.4	37		CCDS7159.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155165	0.78114	.	.	ENSG00000095787	ENST00000347934;ENST00000354911	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2024	0.59776	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	WAC	28862971	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.206000	0.58473	2.045000	0.60652	0.533000	0.62120	.		0.662	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264	Intron	8	52	0	0	0	1	0	8	52					A	28822965	T	A	28822965	5	1	51	1	0	0	0	0	0	0	1	0	17262	1652	57	4	86	4	WAC	10	28822965	Splice_Site	SNP	T	TCGA-NF-A4WX-01A-11D-A28R-08		28822965	106711782	23	9338										
LRDD	55367	broad.mit.edu	37	chr11	803576	803576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	acaggcacccagtgtgtcccGgcgttgccctcctgggaagg	14	14	0	0			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr11:803576G>A	ENST00000347755.5	-	3	448	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Missense_Mutation_p.R103W	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					AGTGTGTCCCGGCGTTGCCCT	0.672																																						ENST00000347755.5																			0											c.(307-309)Cgg>Tgg		p53-induced death domain protein							23	28	26					11																	803576		2198	4294	6492	SO:0001583	missense	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:803576G>A																												ENST00000347755.5:c.307C>T	11.37:g.803576G>A	ENSP00000337797:p.Arg103Trp		Somatic				PIDD_ENST00000411829.2_Missense_Mutation_p.R103W|PIDD_ENST00000534649.1_5'UTR	p.R103W	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	WXS	Illumina GAIIx	Phase_I	Q9HB75	PIDD_HUMAN			3	448	-			103						Missense_Mutation	SNP	ENST00000347755.5	37	c.307C>T	CCDS7716.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650580	0.29336	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.19250	2.16;2.16	4.34	2.39	0.29439	.	0.638282	0.14984	N	0.287087	T	0.10252	0.0251	N	0.14661	0.345	0.09310	N	1	B;B	0.21381	0.008;0.055	B;B	0.14578	0.002;0.011	T	0.24225	-1.0166	10	0.41790	T	0.15	.	3.8314	0.08876	0.2062:0.0:0.5522:0.2416	.	103;103	Q9HB75;Q9HB75-2	PIDD_HUMAN;.	W	103	ENSP00000416801:R103W;ENSP00000337797:R103W	ENSP00000337797:R103W	R	-	1	2	PIDD	793576	0.078000	0.21339	0.001000	0.08648	0.230000	0.25150	0.403000	0.20982	0.415000	0.25817	0.462000	0.41574	CGG		0.672	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			17	0	0	0	0	1	0	17	0					A	803576	G	A	803576	3	1	51	1	0	0	0	0	1	0	0	0	8945	1115	39	1	2481	1	LRDD	11	803576	Missense_Mutation	SNP	G	TCGA-NF-A4WX-01A-11D-A28R-08		803576	134202940	24	9339										
OR5D14	219436	broad.mit.edu	37	chr11	55563682	55563682	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	tgtacactactgatcatcctCacttcctatgttttcatttt	3	11	3	1			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr11:55563682C>T	ENST00000335605.1	+	1	651	c.651C>T	c.(649-651)ctC>ctT	p.L217L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGATCATCCTCACTTCCTATG	0.478																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(649-651)ctC>ctT		olfactory receptor, family 5, subfamily D, member 14							198	185	190					11																	55563682		2200	4296	6496	SO:0001819	synonymous_variant	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563682C>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.651C>T	11.37:g.55563682C>T			Somatic					p.L217L	NM_001004735.1	NP_001004735.1	WXS	Illumina GAIIx	Phase_I	Q8NGL3	OR5DE_HUMAN			1	651	+		all_epithelial(135;0.196)	217					Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	ENST00000335605.1	37	c.651C>T	CCDS31508.1																																																																																				0.478	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		21	103	0	0	0	1	0	21	103					T	55563682	C	T	55563682	2	4	51	1	0	0	0	0	0	0	0	1	11164	813	29	3		3	OR5D14	11	55563682	Silent	SNP	C	TCGA-NF-A4WX-01A-11D-A28R-08	54760106	55563682	79442834	25	9340										
CBL	867	broad.mit.edu	37	chr11	119077179	119077179	+	Frame_Shift_Del	DEL	G	G	-													0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	ccgggggcggcagcggctccGggggctcgggttcgggtggc							TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr11:119077179delG	ENST00000264033.4	+	1	428	c.52delG	c.(52-54)gggfs	p.G19fs		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	19	Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CAGCGGCTCCGGGGGCTCGGG	0.736			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"Dom, Rec"	yes		11	11q23.3	867	"T, Mis S, O"	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"AML, JMML, MDS"		0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(52-54)ggfs		Cbl proto-oncogene, E3 ubiquitin protein ligase							5	8	7					11																	119077179		2089	4120	6209	SO:0001589	frameshift_variant	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119077179delG	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.52delG	11.37:g.119077179delG	ENSP00000264033:p.Gly19fs		Somatic					p.G19fs	NM_005188.3	NP_005179.2	WXS	Illumina GAIIx	Phase_I	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	1	428	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	19					A3KMP8	Frame_Shift_Del	DEL	ENST00000264033.4	37	c.52delG	CCDS8418.1																																																																																				0.736	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		2	4						2	4	---	---	---	---	-	119077179	G	-	119077179	7	5	51	1	0	1	0	1	0	0	0	0	2702	1116	39	0	54	0	CBL	11	119077179	Frame_Shift_Del	DEL	G	TCGA-NF-A4WX-01A-11D-A28R-08	63513497	119077179	15929337	26	9341										
C11orf63	79864	broad.mit.edu	37	chr11	122805248	122805248	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	gaccagccaagctcaagattCgaaagcagtgtaaacaccag	9	11	1	1			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr11:122805248C>T	ENST00000531316.1	+	4	1191	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	C11orf63_ENST00000227349.2_Nonsense_Mutation_p.R367*			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	367					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)		GCTCAAGATTCGAAAGCAGTG	0.468																																						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.(1099-1101)Cga>Tga		chromosome 11 open reading frame 63							79	66	70					11																	122805248		2202	4299	6501	SO:0001587	stop_gained	79864							g.chr11:122805248C>T	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.1099C>T	11.37:g.122805248C>T	ENSP00000431669:p.Arg367*		Somatic				C11orf63_ENST00000531316.1_Nonsense_Mutation_p.R367*	p.R367*	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)	5	1396	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	367					A8K6G0|Q96GB5|Q9H5D6	Nonsense_Mutation	SNP	ENST00000531316.1	37	c.1099C>T	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310713	0.95629	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	.	.	.	5.46	1.33	0.21861	.	0.623834	0.14199	N	0.334834	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5308	2.3691	0.04326	0.1404:0.3877:0.309:0.1628	.	.	.	.	X	367	.	ENSP00000227349:R367X	R	+	1	2	C11orf63	122310458	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.700000	0.25601	-0.012000	0.14223	-0.302000	0.09304	CGA		0.468	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		9	28	0	0	0	1	0	9	28					T	122805248	C	T	122805248	4	4	51	1	0	0	0	0	0	1	0	0	1656	876	31	1	1177	1	C11orf63	11	122805248	Nonsense_Mutation	SNP	C	TCGA-NF-A4WX-01A-11D-A28R-08	3728069	122805248	12201268	27	9342										
BRCA2	675	broad.mit.edu	37	chr13	32929088	32929088	+	Frame_Shift_Del	DEL	G	G	-													0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	tctcatttgtatgaacatctGactttggaaaaatcttcaag					rs570826002		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr13:32929088delG	ENST00000380152.3	+	14	7331	c.7098delG	c.(7096-7098)ctgfs	p.L2366fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.L2366fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2366	Interaction with FANCD2.				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)		ATGAACATCTGACTTTGGAAA	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.(7096-7098)ctfs	Homologous recombination	breast cancer 2, early onset							93	95	94					13																	32929088		2203	4300	6503	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.chr13:32929088delG	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.7098delG	13.37:g.32929088delG	ENSP00000369497:p.Leu2366fs	TCGA Ovarian(8;0.087)	Somatic				BRCA2_ENST00000380152.3_Frame_Shift_Del_p.L2366fs	p.L2366fs	NM_000059.3	NP_000050.2	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)	14	7325	+		Lung SC(185;0.0262)	2366			Interaction with FANCD2.		O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	c.7098delG	CCDS9344.1																																																																																				0.358	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		46	49						46	49	---	---	---	---	-	32929088	G	-	32929088	7	5	51	1	0	1	0	1	0	0	0	0	1501	1277	45	0	7148	0	BRCA2	13	32929088	Frame_Shift_Del	DEL	G	TCGA-NF-A4WX-01A-11D-A28R-08		32929088	82240790	28	9343										
N4BP2L2	10443	broad.mit.edu	37	chr13	33018126	33018126	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	gagatgggtcctgatctcccGgtgtaagatcacttaagaat	11	8	2	4	rs376388849		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr13:33018126G>T	ENST00000504114.1	-	6	594	c.503C>A	c.(502-504)cCg>cAg	p.P168Q	N4BP2L2_ENST00000399396.3_Missense_Mutation_p.P183Q|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.P168Q|N4BP2L2_ENST00000446957.2_Intron			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CTGATCTCCCGGTGTAAGATC	0.383																																						ENST00000357505.6																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(502-504)cCg>cAg		NEDD4 binding protein 2-like 2							57	52	53					13																	33018126		1849	4092	5941	SO:0001583	missense	10443							g.chr13:33018126G>T	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.503C>A	13.37:g.33018126G>T	ENSP00000427477:p.Pro168Gln		Somatic				N4BP2L2_ENST00000504114.1_Missense_Mutation_p.P168Q|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.P183Q|N4BP2L2_ENST00000446957.2_Intron	p.P168Q	NM_001278432.1	NP_001265361.1	WXS	Illumina GAIIx	Phase_I	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	607	-		Lung SC(185;0.0262)	179					A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37	c.503C>A		.	.	.	.	.	.	.	.	.	.	G	13.87	2.366664	0.41902	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396;ENST00000505213	T	0.59638	0.25	4.7	4.7	0.59300	.	0.444437	0.21233	N	0.077943	T	0.71333	0.3327	L	0.53249	1.67	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.98;0.98;0.989;0.989	T	0.64296	-0.6441	10	0.54805	T	0.06	-6.6242	15.4485	0.75253	0.0:0.0:1.0:0.0	.	168;183;66;66	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	Q	66;95;168;168;183;612	ENSP00000423362:P612Q	ENSP00000350104:P168Q	P	-	2	0	N4BP2L2;RP11-298P3.4	31916126	0.096000	0.21769	0.013000	0.15412	0.231000	0.25187	2.224000	0.42945	2.119000	0.64992	0.655000	0.94253	CCG		0.383	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		3	16	1	0	0.150653	1	0.150653	3	16					T	33018126	G	T	33018126	3	4	51	1	0	0	0	0	1	0	0	0	10121	1116	39	5	1722	5	N4BP2L2	13	33018126	Missense_Mutation	SNP	G	TCGA-NF-A4WX-01A-11D-A28R-08	89038	33018126	82151752	29	9344										
DHRS4L2	317749	broad.mit.edu	37	chr14	24464290	24464290	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	cctagtctccaatgctgctgTcaaccctttctttggaagcc	7	14	3	0			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr14:24464290T>C	ENST00000335125.6	+	3	482	c.356T>C	c.(355-357)gTc>gCc	p.V119A	DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.V18A|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.V119A|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.V119A|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.V117A|DHRS4L2_ENST00000543805.1_Intron	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	117						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		AATGCTGCTGTCAACCCTTTC	0.537																																						ENST00000335125.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10						c.(355-357)gTc>gCc		dehydrogenase/reductase (SDR family) member 4 like 2							468	426	440					14																	24464290		2203	4300	6503	SO:0001583	missense	317749						binding|oxidoreductase activity	g.chr14:24464290T>C		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	19731	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 3"	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.356T>C	14.37:g.24464290T>C	ENSP00000334801:p.Val119Ala		Somatic				DHRS4L2_ENST00000382755.4_Missense_Mutation_p.V117A|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.V18A|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.V119A|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.V119A	p.V119A	NM_198083.3	NP_932349.2	WXS	Illumina GAIIx	Phase_I	D5KJA1	D5KJA1_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	3	482	+			74					Q3YLD4	Missense_Mutation	SNP	ENST00000335125.6	37	c.356T>C	CCDS9606.2	.	.	.	.	.	.	.	.	.	.	-	15.35	2.807853	0.50421	.	.	ENSG00000187630	ENST00000534993;ENST00000397071;ENST00000335125;ENST00000545240;ENST00000382755	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	4.64	4.64	0.57946	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89983	0.6873	L	0.47078	1.49	0.22771	N	0.998754	P	0.49253	0.921	P	0.57152	0.814	T	0.83003	-0.0176	10	0.40728	T	0.16	.	12.06	0.53557	0.0:0.0:0.0:1.0	.	117	Q6PKH6	DR4L2_HUMAN	A	18;119;119;119;117	ENSP00000380261:V119A;ENSP00000334801:V119A;ENSP00000437883:V119A;ENSP00000372203:V117A	ENSP00000334801:V119A	V	+	2	0	DHRS4L2	23534130	1.000000	0.71417	0.995000	0.50966	0.773000	0.43773	5.361000	0.66092	1.725000	0.51514	0.327000	0.21459	GTC		0.537	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			82	375	0	0	0	1	0	82	375					C	24464290	T	C	24464290	3	2	51	1	0	0	0	0	1	0	0	0	4496	1667	58	4	366	4	DHRS4L2	14	24464290	Missense_Mutation	SNP	T	TCGA-NF-A4WX-01A-11D-A28R-08		24464290	82885250	30	9345										
FOXN3	1112	broad.mit.edu	37	chr14	89628877	89628877	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	ccctgccgcttctttcatctCctcatcatcgctctcggggg	8	17	6	0			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr14:89628877C>A	ENST00000345097.4	-	7	1470	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*	FOXN3_ENST00000557258.1_Nonsense_Mutation_p.E430*|FOXN3_ENST00000555353.1_Nonsense_Mutation_p.E430*|FOXN3_ENST00000261302.5_Nonsense_Mutation_p.E452*	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	452					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTTTCATCTCCTCATCATCG	0.567																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1354-1356)Gag>Tag		forkhead box N3							71	71	71					14																	89628877		2203	4300	6503	SO:0001587	stop_gained	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89628877C>A		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"Forkhead boxes"	1928	protein-coding gene	gene with protein product		602628	"chromosome 14 open reading frame 116", "checkpoint suppressor 1"	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1354G>T	14.37:g.89628877C>A	ENSP00000343288:p.Glu452*		Somatic				FOXN3_ENST00000261302.5_Nonsense_Mutation_p.E452*|FOXN3_ENST00000555353.1_Nonsense_Mutation_p.E430*|FOXN3_ENST00000557258.1_Nonsense_Mutation_p.E430*	p.E452*	NM_001085471.1	NP_001078940.1	WXS	Illumina GAIIx	Phase_I	O00409	FOXN3_HUMAN			7	1470	-			452					Q96II7|Q9UIE7	Nonsense_Mutation	SNP	ENST00000345097.4	37	c.1354G>T	CCDS41977.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241396	0.95272	.	.	ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.9882	0.97356	0.0:1.0:0.0:0.0	.	.	.	.	X	452;452;430;430	.	ENSP00000261302:E452X	E	-	1	0	FOXN3	88698630	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GAG		0.567	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		16	36	1	0	1.99824e-07	1	2.14097e-07	16	36					A	89628877	C	A	89628877	4	1	51	1	0	0	0	0	0	1	0	0	6029	864	30	2	122	2	FOXN3	14	89628877	Nonsense_Mutation	SNP	C	TCGA-NF-A4WX-01A-11D-A28R-08	65164587	89628877	17720663	31	9346										
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67	58	61					17																	7577120		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.chr17:7577120C>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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	p.R273H	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	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	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.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	2	0	0	0	1	0	15	2					T	7577120	C	T	7577120	3	4	51	1	0	0	0	0	1	0	0	0	16396	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-NF-A4WX-01A-11D-A28R-08		7577120	73618090	32	9347										
PLXDC1	57125	broad.mit.edu	37	chr17	37264406	37264406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	gtaaacaactgtggagttgtCggagtagccagggttgaagt	15	5	0	1			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:37264406C>T	ENST00000315392.4	-	5	773	c.562G>A	c.(562-564)Gac>Aac	p.D188N	PLXDC1_ENST00000444911.2_Missense_Mutation_p.D148N|PLXDC1_ENST00000394316.2_Missense_Mutation_p.D188N|PLXDC1_ENST00000539608.1_Missense_Mutation_p.D115N|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	188					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						GTGGAGTTGTCGGAGTAGCCA	0.522																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(562-564)Gac>Aac		plexin domain containing 1							140	139	139					17																	37264406		2203	4300	6503	SO:0001583	missense	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37264406C>T	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.562G>A	17.37:g.37264406C>T	ENSP00000323927:p.Asp188Asn		Somatic				PLXDC1_ENST00000539608.1_Missense_Mutation_p.D115N|PLXDC1_ENST00000444911.2_Missense_Mutation_p.D148N|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Missense_Mutation_p.D188N	p.D188N	NM_020405.4	NP_065138.2	WXS	Illumina GAIIx	Phase_I	Q8IUK5	PXDC1_HUMAN			5	773	-			188					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	c.562G>A	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	7.316	0.615970	0.14129	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000539608;ENST00000444911;ENST00000394316;ENST00000441877;ENST00000415163	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.7	1.22	0.21188	.	0.687444	0.14876	N	0.293271	T	0.54902	0.1887	N	0.05383	-0.06	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.38090	-0.9677	10	0.08837	T	0.75	-25.9604	5.8768	0.18834	0.0:0.3609:0.3785:0.2606	.	188	Q8IUK5	PXDC1_HUMAN	N	188;115;115;148;188;115;115	ENSP00000323927:D188N;ENSP00000441881:D115N;ENSP00000409687:D148N;ENSP00000377851:D188N;ENSP00000393227:D115N;ENSP00000416819:D115N	ENSP00000323927:D188N	D	-	1	0	PLXDC1	34517932	0.257000	0.24022	0.358000	0.25811	0.113000	0.19764	1.276000	0.33156	0.326000	0.23384	-0.137000	0.14449	GAC		0.522	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		17	161	0	0	0	1	0	17	161					T	37264406	C	T	37264406	3	4	51	1	0	0	0	0	1	0	0	0	12126	884	31	1	980	1	PLXDC1	17	37264406	Missense_Mutation	SNP	C	TCGA-NF-A4WX-01A-11D-A28R-08	29687286	37264406	43930804	33	9348										
LRRC46	90506	broad.mit.edu	37	chr17	45911901	45911901	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	cagtctctatctgcaaggggTaacttctttctccacccttc	6	14	4	0			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:45911901T>C	ENST00000269025.4	+	3	588		c.e3+2			NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						CTGCAAGGGGTAACTTCTTTC	0.527																																						ENST00000269025.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.e3+2		leucine rich repeat containing 46							108	108	108					17																	45911901		2203	4300	6503	SO:0001630	splice_region_variant	90506							g.chr17:45911901T>C		CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.225+2T>C	17.37:g.45911901T>C			Somatic						NM_033413.3	NP_219481.1	WXS	Illumina GAIIx	Phase_I	Q96FV0	LRC46_HUMAN			3	588	+								A8K9Q0	Splice_Site	SNP	ENST00000269025.4	37		CCDS11518.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.556792	0.45487	.	.	ENSG00000141294	ENST00000269025	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.766	0.51930	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC46	43266900	1.000000	0.71417	0.995000	0.50966	0.478000	0.33099	4.601000	0.61090	2.044000	0.60594	0.528000	0.53228	.		0.527	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441377.1	NM_033413	Intron	57	3	0	0	0	1	0	57	3					C	45911901	T	C	45911901	5	2	51	1	0	0	0	0	0	0	1	0	9012	1652	57	4	237	4	LRRC46	17	45911901	Splice_Site	SNP	T	TCGA-NF-A4WX-01A-11D-A28R-08	8647495	45911901	35283309	34	9349										
RNF43	54894	broad.mit.edu	37	chr17	56492928	56492928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	cagccagctgcagctggtggCcaccactcatgctaccagct	10	16	1	0			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:56492928C>T	ENST00000584437.1	-	1	1966	c.11G>A	c.(10-12)gGc>gAc	p.G4D	RNF43_ENST00000407977.2_Missense_Mutation_p.G4D|RNF43_ENST00000583753.1_Missense_Mutation_p.G4D|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Missense_Mutation_p.G4D|RNF43_ENST00000577716.1_Missense_Mutation_p.G4D|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000580014.1_5'Flank			Q68DV7	RNF43_HUMAN	ring finger protein 43	4					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGCTGGTGGCCACCACTCAT	0.572																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(10-12)gGc>gAc		ring finger protein 43							29	27	28					17																	56492928		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56492928C>T		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.11G>A	17.37:g.56492928C>T	ENSP00000463069:p.Gly4Asp		Somatic				RNF43_ENST00000583753.1_Missense_Mutation_p.G4D|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Missense_Mutation_p.G4D|RNF43_ENST00000407977.2_Missense_Mutation_p.G4D|RNF43_ENST00000577716.1_Missense_Mutation_p.G4D	p.G4D			WXS	Illumina GAIIx	Phase_I	Q68DV7	RNF43_HUMAN			1	1966	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		4					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.11G>A	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364965	0.61513	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.26223	2.45;1.75	5.69	5.69	0.88448	.	0.286703	0.30302	N	0.009939	T	0.30978	0.0782	N	0.14661	0.345	0.43199	D	0.995046	D;D	0.64830	0.994;0.99	P;P	0.57283	0.817;0.661	T	0.10200	-1.0640	10	0.87932	D	0	0.427	17.3358	0.87280	0.0:1.0:0.0:0.0	.	4;4	Q68DV7-2;Q68DV7	.;RNF43_HUMAN	D	4	ENSP00000385328:G4D;ENSP00000441969:G4D	ENSP00000385328:G4D	G	-	2	0	RNF43	53847927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.263000	0.51546	2.840000	0.97914	0.655000	0.94253	GGC		0.572	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		58	1	0	0	0	1	0	58	1					T	56492928	C	T	56492928	3	4	51	1	0	0	0	0	1	0	0	0	13510	739	26	3	2376	3	RNF43	17	56492928	Missense_Mutation	SNP	C	TCGA-NF-A4WX-01A-11D-A28R-08	10581027	56492928	24702282	35	9350										
SRP68	6730	broad.mit.edu	37	chr17	74046599	74046599	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	aggcgctccttagtttcttcGctttcagcctaaacaagggc	9	12	2	0	rs148814451	byFrequency	TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:74046599G>A	ENST00000307877.2	-	9	1148	c.987C>T	c.(985-987)agC>agT	p.S329S	SRP68_ENST00000539137.1_Silent_p.S291S|SRP68_ENST00000602720.1_5'UTR|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000355113.5_Silent_p.S228S	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	329					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TAGTTTCTTCGCTTTCAGCCT	0.517													G|||	11	0.00219649	0.0083	0	5008	,	,		17726	0		0	False		,,,				2504	0					ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(985-987)agC>agT		signal recognition particle 68kDa		G		32,4374	36.8+/-68.6	0,32,2171	94	80	85		987	-5.8	0.9	17	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous	SRP68	NM_014230.2		0,32,6471	AA,AG,GG		0.0,0.7263,0.246		329/628	74046599	32,12974	2203	4300	6503	SO:0001819	synonymous_variant	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74046599G>A	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"signal recognition particle 68kD"			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.987C>T	17.37:g.74046599G>A			Somatic				SRP68_ENST00000539137.1_Silent_p.S291S|SRP68_ENST00000355113.5_Silent_p.S228S|SRP68_ENST00000602720.1_5'UTR|SRP68_ENST00000542536.2_5'UTR	p.S329S	NM_014230.3	NP_055045.2	WXS	Illumina GAIIx	Phase_I	Q9UHB9	SRP68_HUMAN			9	1148	-			329					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Silent	SNP	ENST00000307877.2	37	c.987C>T	CCDS11738.1																																																																																				0.517	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		81	0	0	0	0	1	0	81	0					A	74046599	G	A	74046599	2	1	51	1	0	0	0	0	0	0	0	1	15171	1078	38	1		1	SRP68	17	74046599	Silent	SNP	G	TCGA-NF-A4WX-01A-11D-A28R-08	17553671	74046599	7148611	36	9351										
FOXK2	3607	broad.mit.edu	37	chr17	80545021	80545021	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	cagacggcacagaccaccccGgtccagacggtgaccatagt	11	15	0	4	rs139592674		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:80545021G>T	ENST00000335255.5	+	8	1833	c.1659G>T	c.(1657-1659)ccG>ccT	p.P553P	RP13-638C3.3_ENST00000575085.1_RNA	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	553					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			AGACCACCCCGGTCCAGACGG	0.532																																						ENST00000335255.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17						c.(1657-1659)ccG>ccT		forkhead box K2							100	83	89					17																	80545021		2203	4300	6503	SO:0001819	synonymous_variant	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80545021G>T	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"Forkhead boxes"	6036	protein-coding gene	gene with protein product		147685	"interleukin enhancer binding factor 1"	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.1659G>T	17.37:g.80545021G>T			Somatic					p.P553P	NM_004514.3	NP_004505.2	WXS	Illumina GAIIx	Phase_I	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		8	1833	+	Breast(20;0.00106)|all_neural(118;0.0952)		553					A6NEP5|Q13622|Q13623|Q13624	Silent	SNP	ENST00000335255.5	37	c.1659G>T	CCDS11813.1																																																																																				0.532	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		10	103	1	0	3.07112e-06	1	3.17702e-06	10	103					T	80545021	G	T	80545021	2	4	51	1	0	0	0	0	0	0	0	1	6023	1103	39	5		5	FOXK2	17	80545021	Silent	SNP	G	TCGA-NF-A4WX-01A-11D-A28R-08	6498422	80545021	650189	37	9352										
SH3GL1	6455	broad.mit.edu	37	chr19	4363847	4363847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	tcttgtagtcaaagtccaggCggcggccctccagtttcttc	10	13	3	0			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr19:4363847C>T	ENST00000269886.3	-	6	672	c.494G>A	c.(493-495)cGc>cAc	p.R165H	SH3GL1_ENST00000598564.1_Missense_Mutation_p.R101H|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Missense_Mutation_p.R117H	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	165	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		AAAGTCCAGGCGGCGGCCCTC	0.622			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	ENST00000269886.3				Dom	yes		19	19p13.3	6455	T	SH3-domain GRB2-like 1 (EEN)			L	MLL		AL		0				NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26						c.(493-495)cGc>cAc		SH3-domain GRB2-like 1							35	40	39					19																	4363847		2203	4299	6502	SO:0001583	missense	6455				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding	g.chr19:4363847C>T		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"extra 11-19 leukemia fusion", "fusion partner of MLL", "SH3-containing Grb-2-like 1 protein", "SH3-containing protein EEN", "SH3 domain GRB2-like 1"	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.494G>A	19.37:g.4363847C>T	ENSP00000269886:p.Arg165His		Somatic				AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Missense_Mutation_p.R101H|SH3GL1_ENST00000417295.2_Missense_Mutation_p.R117H	p.R165H	NM_003025.3	NP_003016.1	WXS	Illumina GAIIx	Phase_I	Q99961	SH3G1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)	6	672	-			165			BAR.		B4DRA1|E7EVZ4|M0QZV5|Q99668	Missense_Mutation	SNP	ENST00000269886.3	37	c.494G>A	CCDS32874.1	.	.	.	.	.	.	.	.	.	.	.	35	5.456733	0.96223	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	T;T	0.42131	0.98;0.98	4.59	4.59	0.56863	BAR (3);	0.000000	0.85682	D	0.000000	T	0.73481	0.3592	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.70487	0.969;0.968;0.968	T	0.82868	-0.0244	10	0.87932	D	0	0.7649	16.7043	0.85367	0.0:1.0:0.0:0.0	.	117;165;165	E7EVZ4;Q6FGM0;Q99961	.;.;SH3G1_HUMAN	H	165;117	ENSP00000269886:R165H;ENSP00000404568:R117H	ENSP00000269886:R165H	R	-	2	0	SH3GL1	4314847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.257000	0.74773	0.561000	0.74099	CGC		0.622	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	NM_003025		36	2	0	0	0	1	0	36	2					T	4363847	C	T	4363847	3	4	51	1	0	0	0	0	1	0	0	0	14265	768	27	1	632	1	SH3GL1	19	4363847	Missense_Mutation	SNP	C	TCGA-NF-A4WX-01A-11D-A28R-08		4363847	54765136	38	9353										
PLIN3	10226	broad.mit.edu	37	chr19	4859938	4859938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	gcgtcgcagacagtcttgatGtgcgggtagctctccttggt	14	10	2	2			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr19:4859938G>A	ENST00000221957.4	-	3	341	c.165C>T	c.(163-165)caC>caT	p.H55H	PLIN3_ENST00000592528.1_Silent_p.H55H|PLIN3_ENST00000585479.1_Silent_p.H55H	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	55					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)	CAGTCTTGATGTGCGGGTAGC	0.637																																						ENST00000221957.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(163-165)caC>caT		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)						77	65	69					19																	4859938		2203	4300	6503	SO:0001819	synonymous_variant	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4859938G>A	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"Perilipins"	16893	protein-coding gene	gene with protein product	"cargo selection protein (mannose 6 phosphate receptor binding protein)", "placental protein 17", "MPR-BINDING PROTEIN, 47-KD"	602702	"mannose-6-phosphate receptor binding protein 1"	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.165C>T	19.37:g.4859938G>A			Somatic				PLIN3_ENST00000592528.1_Silent_p.H55H|PLIN3_ENST00000585479.1_Silent_p.H55H	p.H55H	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			3	341	-			55					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Silent	SNP	ENST00000221957.4	37	c.165C>T	CCDS12137.1																																																																																				0.637	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		8	16	0	0	0	1	0	8	16					A	4859938	G	A	4859938	2	1	51	1	0	0	0	0	0	0	0	1	12100	1368	48	3		3	PLIN3	19	4859938	Silent	SNP	G	TCGA-NF-A4WX-01A-11D-A28R-08	496091	4859938	54269045	39	9354										
NWD1	284434	broad.mit.edu	37	chr19	16860396	16860396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	tcattcagaccttctgcggaCgccaggaactcctggcccgg	11	15	3	1	rs148848880		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr19:16860396C>T	ENST00000552788.1	+	4	943	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	NWD1_ENST00000523826.1_Missense_Mutation_p.R109C|NWD1_ENST00000339803.6_Missense_Mutation_p.R180C|NWD1_ENST00000524140.2_Missense_Mutation_p.R315C|NWD1_ENST00000549814.1_Missense_Mutation_p.R315C|NWD1_ENST00000379808.3_Missense_Mutation_p.R315C			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	315							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						CTTCTGCGGACGCCAGGAACT	0.627													C|||	1	0.000199681	0	0	5008	,	,		18806	0.001		0	False		,,,				2504	0					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.(943-945)Cgc>Tgc		NACHT and WD repeat domain containing 1		C	CYS/ARG	0,4406		0,0,2203	39	42	41		943	3.2	1	19	dbSNP_134	41	4,8596	3.7+/-12.6	0,4,4296	no	missense	NWD1	NM_001007525.3	180	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	315/1433	16860396	4,13002	2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16860396C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.943C>T	19.37:g.16860396C>T	ENSP00000447224:p.Arg315Cys		Somatic				NWD1_ENST00000552788.1_Missense_Mutation_p.R315C|NWD1_ENST00000549814.1_Missense_Mutation_p.R315C|NWD1_ENST00000379808.3_Missense_Mutation_p.R315C|NWD1_ENST00000523826.1_Missense_Mutation_p.R109C|NWD1_ENST00000339803.6_Missense_Mutation_p.R180C	p.R315C	NM_001007525.3	NP_001007526.3	WXS	Illumina GAIIx	Phase_I	Q149M9	NWD1_HUMAN			6	1361	+			315					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.943C>T		.	.	.	.	.	.	.	.	.	.	c	13.13	2.145851	0.37923	0.0	4.65E-4	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	4.36	3.19	0.36642	.	0.115679	0.49305	D	0.000146	D	0.84759	0.5543	L	0.29908	0.895	0.42256	D	0.991997	D;D;D	0.89917	1.0;0.999;0.999	P;P;P	0.61275	0.886;0.88;0.763	D	0.85965	0.1473	10	0.87932	D	0	-19.118	10.6855	0.45841	0.2361:0.7639:0.0:0.0	.	315;315;180	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	C	180;315;315;315;109;315;180	ENSP00000428579:R315C;ENSP00000447548:R315C;ENSP00000369136:R315C;ENSP00000428955:R109C;ENSP00000447224:R315C;ENSP00000340159:R180C	ENSP00000340159:R180C	R	+	1	0	NWD1	16721396	0.993000	0.37304	0.953000	0.39169	0.040000	0.13550	2.405000	0.44548	2.143000	0.66587	0.643000	0.83706	CGC		0.627	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		14	35	0	0	0	1	0	14	35					T	16860396	C	T	16860396	3	4	51	1	0	0	0	0	1	0	0	0	10790	536	19	1	544	1	NWD1	19	16860396	Missense_Mutation	SNP	C	TCGA-NF-A4WX-01A-11D-A28R-08	12000458	16860396	42268587	40	9355										
WDR62	284403	broad.mit.edu	37	chr19	36591677	36591677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	gtccccaggaagctggccgcGggcacccctccttcctgccc	11	20	0	0	rs141094124		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr19:36591677G>A	ENST00000270301.7	+	23	2767	c.2767G>A	c.(2767-2769)Ggg>Agg	p.G923R	WDR62_ENST00000401500.2_Missense_Mutation_p.G923R			O43379	WDR62_HUMAN	WD repeat domain 62	923					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)			AGCTGGCCGCGGGCACCCCTC	0.607																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(2767-2769)Ggg>Agg		WD repeat domain 62		G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	76	78	77		2767,2767	1.2	0	19	dbSNP_134	77	0,8600		0,0,4300	no	missense,missense	WDR62	NM_001083961.1,NM_173636.4	125,125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	923/1524,923/1519	36591677	1,13005	2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36591677G>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.2767G>A	19.37:g.36591677G>A	ENSP00000270301:p.Gly923Arg		Somatic				WDR62_ENST00000270301.7_Missense_Mutation_p.G923R	p.G923R	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)		23	2802	+	Esophageal squamous(110;0.162)		923					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.2767G>A	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	0.140	-1.102997	0.01828	2.27E-4	0.0	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.28895	1.59;1.59	4.65	1.22	0.21188	.	0.725201	0.13552	N	0.379404	T	0.19327	0.0464	L	0.36672	1.1	0.09310	N	1	B;B	0.29716	0.255;0.166	B;B	0.25140	0.058;0.026	T	0.17623	-1.0363	10	0.25106	T	0.35	-14.522	6.4695	0.21999	0.3261:0.0:0.6739:0.0	.	923;923	O43379-4;O43379	.;WDR62_HUMAN	R	923	ENSP00000384792:G923R;ENSP00000270301:G923R	ENSP00000270301:G923R	G	+	1	0	WDR62	41283517	0.191000	0.23288	0.001000	0.08648	0.015000	0.08874	0.862000	0.27899	0.376000	0.24707	-0.291000	0.09656	GGG		0.607	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		18	87	0	0	0	1	0	18	87					A	36591677	G	A	36591677	3	1	51	1	0	0	0	0	1	0	0	0	17328	1116	39	1	2857	1	WDR62	19	36591677	Missense_Mutation	SNP	G	TCGA-NF-A4WX-01A-11D-A28R-08	19731281	36591677	22537306	41	9356										
KLHL22	84861	broad.mit.edu	37	chr22	20825725	20825725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	atatgaaatgtaggatttggCacatagcattgtaggacaca	10	5	0	1			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr22:20825725C>T	ENST00000328879.4	-	3	461	c.305G>A	c.(304-306)tGc>tAc	p.C102Y	KLHL22_ENST00000440659.2_Intron	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	102	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TAGGATTTGGCACATAGCATT	0.502																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(304-306)tGc>tAc		kelch-like family member 22							173	151	158					22																	20825725		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20825725C>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"Kelch-like", "BTB/POZ domain containing"	25888	protein-coding gene	gene with protein product			"kelch-like 22 (Drosophila)"			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.305G>A	22.37:g.20825725C>T	ENSP00000331682:p.Cys102Tyr		Somatic				KLHL22_ENST00000440659.2_Intron	p.C102Y	NM_032775.3	NP_116164.2	WXS	Illumina GAIIx	Phase_I	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		3	461	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	102			BTB.		A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.305G>A	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406411	0.62399	.	.	ENSG00000099910	ENST00000328879;ENST00000451553;ENST00000444967;ENST00000458248;ENST00000443285;ENST00000431430	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.3	5.3	0.74995	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.195791	0.53938	D	0.000048	T	0.68044	0.2958	L	0.34521	1.04	0.80722	D	1	D	0.56746	0.977	P	0.53224	0.721	T	0.71695	-0.4515	10	0.66056	D	0.02	.	16.4537	0.84003	0.0:1.0:0.0:0.0	.	102	Q53GT1	KLH22_HUMAN	Y	102;25;134;102;136;102	ENSP00000331682:C102Y;ENSP00000400095:C25Y;ENSP00000403999:C134Y;ENSP00000398616:C102Y;ENSP00000397882:C136Y;ENSP00000409092:C102Y	ENSP00000331682:C102Y	C	-	2	0	KLHL22	19155725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.990000	0.49401	2.481000	0.83766	0.650000	0.86243	TGC		0.502	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		15	85	0	0	0	1	0	15	85					T	20825725	C	T	20825725	3	4	51	1	0	0	0	0	1	0	0	0	8386	710	25	3	1619	3	KLHL22	22	20825725	Missense_Mutation	SNP	C	TCGA-NF-A4WX-01A-11D-A28R-08		20825725	30478841	42	9357										
NCAPH2	29781	broad.mit.edu	37	chr22	50955912	50955912	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	gatttcatctctggaaagagGtgagttctgcagccactcac	10	10	4	2			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr22:50955912G>A	ENST00000420993.2	+	3	388		c.e3+1		NCAPH2_ENST00000395698.3_Splice_Site|NCAPH2_ENST00000395701.3_Splice_Site|NCAPH2_ENST00000299821.11_Splice_Site	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2						chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|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;0.212)		CTGGAAAGAGGTGAGTTCTGC	0.607																																						ENST00000395701.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24						c.e3+1		non-SMC condensin II complex, subunit H2							85	86	85					22																	50955912		2203	4300	6503	SO:0001630	splice_region_variant	29781				chromosome condensation	chromosome|nucleus		g.chr22:50955912G>A	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.266+1G>A	22.37:g.50955912G>A			Somatic				NCAPH2_ENST00000395698.3_Splice_Site|NCAPH2_ENST00000420993.2_Splice_Site|NCAPH2_ENST00000299821.11_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	3	360	+		all_cancers(38;4.58e-14)|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)						B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Splice_Site	SNP	ENST00000420993.2	37		CCDS14094.2	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703093	0.48412	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821;ENST00000496227	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4642	0.84073	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCAPH2	49302778	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	4.218000	0.58554	2.463000	0.83235	0.561000	0.74099	.		0.607	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299	Intron	102	75	0	0	0	1	0	102	75					A	50955912	G	A	50955912	5	1	51	1	0	0	0	0	0	0	1	0	10219	1275	44	3	277	3	NCAPH2	22	50955912	Splice_Site	SNP	G	TCGA-NF-A4WX-01A-11D-A28R-08	30130187	50955912	348654	43	9358										
PLAC1	10761	broad.mit.edu	37	chrX	133700506	133700506	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0454545454545455	2	1	0.545688545688546	0	0.587664587664588	0.333333333333333	1	0	cggtaggtgaactggtaggcGtgtggctgaacatggtttgg	18	5	0	2			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chrX:133700506G>A	ENST00000359237.4	-	3	492	c.207C>T	c.(205-207)caC>caT	p.H69H	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					ACTGGTAGGCGTGTGGCTGAA	0.498																																						ENST00000359237.4																			0				large_intestine(4)|lung(1)|pancreas(1)	6						c.(205-207)caC>caT		placenta-specific 1							234	194	208					X																	133700506		2203	4300	6503	SO:0001819	synonymous_variant	10761				placenta development	extracellular region		g.chrX:133700506G>A	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"cancer/testis antigen 92"	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.207C>T	X.37:g.133700506G>A			Somatic				PLAC1_ENST00000476971.1_5'UTR	p.H69H	NM_021796.3	NP_068568.1	WXS	Illumina GAIIx	Phase_I	Q9HBJ0	PLAC1_HUMAN			3	492	-	Acute lymphoblastic leukemia(192;0.000127)		69						Silent	SNP	ENST00000359237.4	37	c.207C>T	CCDS14642.1																																																																																				0.498	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		61	4	0	0	0	1	0	61	4					A	133700506	G	A	133700506	2	1	51	1	0	0	0	0	0	0	0	1	12021	1136	40	1		1	PLAC1	23	133700506	Silent	SNP	G	TCGA-NF-A4WX-01A-11D-A28R-08		133700506	21570054	44	9359										
PEX14	5195	broad.mit.edu	37	chr1	10689685	10689685	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gccctgcggccgtgaaccacCacagcagcagcgacatctca	10	17	1	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:10689685C>A	ENST00000356607.4	+	9	855	c.775C>A	c.(775-777)Cac>Aac	p.H259N	PEX14_ENST00000538836.1_Missense_Mutation_p.H195N	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	259					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGAACCACCACAGCAGCAG	0.642																																						ENST00000356607.4																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13						c.(775-777)Cac>Aac		peroxisomal biogenesis factor 14							89	73	79					1																	10689685		2203	4300	6503	SO:0001583	missense	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10689685C>A	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.775C>A	1.37:g.10689685C>A	ENSP00000349016:p.His259Asn		Somatic				PEX14_ENST00000538836.1_Missense_Mutation_p.H195N	p.H259N	NM_004565.2	NP_004556.1	WXS	Illumina GAIIx	Phase_I	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	9	855	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	259					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	ENST00000356607.4	37	c.775C>A	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629498	0.28978	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.26957	1.7;1.7	4.7	3.65	0.41850	.	0.150958	0.56097	D	0.000029	T	0.08492	0.0211	N	0.01576	-0.805	0.47183	D	0.999348	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.21518	-1.0243	10	0.15952	T	0.53	-11.4727	10.1977	0.43065	0.4455:0.5545:0.0:0.0	.	216;259	O75381-2;O75381	.;PEX14_HUMAN	N	259;195	ENSP00000349016:H259N;ENSP00000444877:H195N	ENSP00000349016:H259N	H	+	1	0	PEX14	10612272	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.083000	0.71326	2.319000	0.78375	0.563000	0.77884	CAC		0.642	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			55	45	1	0	2.29192e-23	1	2.88011e-23	55	45					A	10689685	C	A	10689685	3	1	52	1	0	0	0	0	1	0	0	0	11751	594	21	5	809	5	PEX14	1	10689685	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08		10689685	238560936	1	9360										
ARID1A	8289	broad.mit.edu	37	chr1	27106730	27106730	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ccccaatgccgtcctttcccCgcagagactggtcttggaaa	9	15	1	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:27106730C>A	ENST00000324856.7	+	20	6712	c.6341C>A	c.(6340-6342)cCg>cAg	p.P2114Q	ARID1A_ENST00000457599.2_Missense_Mutation_p.P1897Q|ARID1A_ENST00000374152.2_Missense_Mutation_p.P1731Q|ARID1A_ENST00000540690.1_Missense_Mutation_p.P442Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2114					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)		GTCCTTTCCCCGCAGAGACTG	0.597			"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.(6340-6342)cCg>cAg		AT rich interactive domain 1A (SWI-like)							98	95	96					1																	27106730		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.chr1:27106730C>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.6341C>A	1.37:g.27106730C>A	ENSP00000320485:p.Pro2114Gln		Somatic				ARID1A_ENST00000540690.1_Missense_Mutation_p.P442Q|ARID1A_ENST00000374152.2_Missense_Mutation_p.P1731Q|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1897Q	p.P2114Q	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	6712	+		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)	2114					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.6341C>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110925	0.56398	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T;T;T;T	0.48201	0.82;0.82;1.26;0.82	4.97	4.97	0.65823	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.72566	0.3476	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.76677	-0.2871	10	0.87932	D	0	-7.4189	18.8325	0.92145	0.0:1.0:0.0:0.0	.	1731;2114;1897	O14497-3;O14497;O14497-2	.;ARI1A_HUMAN;.	Q	2114;1897;1731;442	ENSP00000320485:P2114Q;ENSP00000387636:P1897Q;ENSP00000363267:P1731Q;ENSP00000442437:P442Q	ENSP00000320485:P2114Q	P	+	2	0	ARID1A	26979317	1.000000	0.71417	0.987000	0.45799	0.916000	0.54674	7.417000	0.80156	2.767000	0.95098	0.585000	0.79938	CCG		0.597	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		60	137	1	0	7.47603e-22	1	9.23127e-22	60	137					A	27106730	C	A	27106730	3	1	52	1	0	0	0	0	1	0	0	0	913	652	23	5	6419	5	ARID1A	1	27106730	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	16417045	27106730	222143891	2	9361										
RLF	6018	broad.mit.edu	37	chr1	40703957	40703957	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ggattcattataaaaataaaCatcaaattggcagtgacaga	7	5	2	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:40703957C>T	ENST00000372771.4	+	8	3610	c.3583C>T	c.(3583-3585)Cat>Tat	p.H1195Y		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1195					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)			TAAAAATAAACATCAAATTGG	0.358																																						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.(3583-3585)Cat>Tat		rearranged L-myc fusion							72	76	74					1																	40703957		2200	4299	6499	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.chr1:40703957C>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.3583C>T	1.37:g.40703957C>T	ENSP00000361857:p.His1195Tyr		Somatic					p.H1195Y	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)		8	3610	+	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)	1195					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.3583C>T	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221307	0.79464	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	D	0.81908	-1.55	6.07	6.07	0.98685	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	0.90625	0.7060	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89399	0.3694	10	0.52906	T	0.07	-13.7172	20.6593	0.99626	0.0:1.0:0.0:0.0	.	888;1195	F5H2M5;Q13129	.;RLF_HUMAN	Y	1195;888	ENSP00000361857:H1195Y	ENSP00000361857:H1195Y	H	+	1	0	RLF	40476544	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.373000	0.79623	2.885000	0.99019	0.655000	0.94253	CAT		0.358	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		31	32	0	0	0	1	0	31	32					T	40703957	C	T	40703957	3	4	52	1	0	0	0	0	1	0	0	0	13404	478	17	3	3613	3	RLF	1	40703957	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	13597227	40703957	208546664	3	9362										
RAD54L	8438	broad.mit.edu	37	chr1	46725698	46725698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tccgccgggccctccatgacCccctggaaaaagatgccttg	10	16	0	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:46725698C>T	ENST00000371975.4	+	5	1008	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	RAD54L_ENST00000442598.1_Missense_Mutation_p.P112S	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	112					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCTCCATGACCCCCTGGAAAA	0.537								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(334-336)Ccc>Tcc	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							95	101	99					1																	46725698		2203	4300	6503	SO:0001583	missense	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46725698C>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.334C>T	1.37:g.46725698C>T	ENSP00000361043:p.Pro112Ser		Somatic				RAD54L_ENST00000442598.1_Missense_Mutation_p.P112S	p.P112S	NM_003579.3	NP_003570.2	WXS	Illumina GAIIx	Phase_I	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	5	1008	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	112					Q5TE31|Q6IUY3	Missense_Mutation	SNP	ENST00000371975.4	37	c.334C>T	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	35	5.538630	0.96474	.	.	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.81499	-1.5;-1.5	5.82	5.82	0.92795	Rad54, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90985	0.7165	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90950	0.4804	10	0.59425	D	0.04	-13.3982	20.0886	0.97806	0.0:1.0:0.0:0.0	.	112	Q92698	RAD54_HUMAN	S	112	ENSP00000396113:P112S;ENSP00000361043:P112S	ENSP00000361043:P112S	P	+	1	0	RAD54L	46498285	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.814000	0.86154	2.740000	0.93945	0.557000	0.71058	CCC		0.537	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		93	84	0	0	0	1	0	93	84					T	46725698	C	T	46725698	3	4	52	1	0	0	0	0	1	0	0	0	13008	623	22	3	352	3	RAD54L	1	46725698	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	6021741	46725698	202524923	4	9363										
TTC22	55001	broad.mit.edu	37	chr1	55251777	55251777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	agtagaagatttttgccaggCgattcaggatgggaggttgg	16	4	1	2	rs145786276		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:55251777C>T	ENST00000371276.4	-	5	1002	c.899G>A	c.(898-900)cGc>cAc	p.R300H	TTC22_ENST00000371274.4_Missense_Mutation_p.R300H	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	300										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TTTTGCCAGGCGATTCAGGAT	0.502																																						ENST00000371276.4																			0				kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						c.(898-900)cGc>cAc		tetratricopeptide repeat domain 22		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	115	98	104		899,899	3.6	1	1	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TTC22	NM_001114108.1,NM_017904.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	300/570,300/373	55251777	1,13005	2203	4300	6503	SO:0001583	missense	55001						binding	g.chr1:55251777C>T	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.899G>A	1.37:g.55251777C>T	ENSP00000360323:p.Arg300His		Somatic				TTC22_ENST00000371274.4_Missense_Mutation_p.R300H	p.R300H	NM_001114108.1	NP_001107580.1	WXS	Illumina GAIIx	Phase_I	Q5TAA0	TTC22_HUMAN			5	1002	-			300					Q9NWT4	Missense_Mutation	SNP	ENST00000371276.4	37	c.899G>A	CCDS44152.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956289	0.73902	0.0	1.16E-4	ENSG00000006555	ENST00000371276;ENST00000371274;ENST00000448308	T;T;T	0.73789	-0.78;1.54;0.18	4.53	3.62	0.41486	Tetratricopeptide-like helical (1);	0.067118	0.64402	D	0.000009	T	0.62841	0.2461	L	0.32530	0.975	0.49051	D	0.999745	B;B	0.25007	0.022;0.116	B;B	0.17098	0.005;0.017	T	0.62996	-0.6735	10	0.72032	D	0.01	-25.7824	11.816	0.52211	0.0:0.9131:0.0:0.0869	.	300;300	Q5TAA0;Q5TAA0-2	TTC22_HUMAN;.	H	300;300;81	ENSP00000360323:R300H;ENSP00000360321:R300H;ENSP00000390300:R81H	ENSP00000360321:R300H	R	-	2	0	TTC22	55024365	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.959000	0.49153	1.126000	0.42016	0.561000	0.74099	CGC		0.502	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904		19	25	0	0	0	1	0	19	25					T	55251777	C	T	55251777	3	4	52	1	0	0	0	0	1	0	0	0	16704	768	27	1	925	1	TTC22	1	55251777	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	8526079	55251777	193998844	5	9364										
SPTA1	6708	broad.mit.edu	37	chr1	158581178	158581178	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	acacttgctctggggtaaggGcctgaaaagtataaaaagag	12	6	1	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:158581178G>T	ENST00000368147.4	-	52	7316	c.7136C>A	c.(7135-7137)gCc>gAc	p.A2379D	SPTA1_ENST00000485680.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2379	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)					TGGGGTAAGGGCCTGAAAAGT	0.458																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.e52-1		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							79	77	78					1																	158581178		1893	4098	5991	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.chr1:158581178G>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.7135-1C>A	1.37:g.158581178G>T			Somatic				SPTA1_ENST00000368147.3_Splice_Site_p.A2376_splice	p.A2379_splice	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			52	7316	-	all_hematologic(112;0.0378)		2379			EF-hand 3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37	c.7134_splice	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000794	0.54254	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.25579	1.79;1.79	5.55	4.57	0.56435	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.000000	0.32120	N	0.006555	T	0.28366	0.0701	L	0.59436	1.845	0.35053	D	0.760867	P	0.51653	0.947	P	0.58331	0.837	T	0.04115	-1.0976	10	0.56958	D	0.05	.	8.8986	0.35481	0.0:0.1602:0.674:0.1658	.	2379	P02549	SPTA1_HUMAN	D	2379;2376	ENSP00000357130:A2379D;ENSP00000357129:A2376D	ENSP00000357129:A2376D	A	-	2	0	SPTA1	156847802	1.000000	0.71417	0.997000	0.53966	0.602000	0.36980	2.735000	0.47377	2.767000	0.95098	0.563000	0.77884	GCC		0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Missense_Mutation	11	94	1	0	5.50884e-06	1	5.97141e-06	11	94					T	158581178	G	T	158581178	5	4	52	1	0	0	0	0	0	0	1	0	15131	1217	42	5	127	5	SPTA1	1	158581178	Splice_Site	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	103329401	158581178	90669443	6	9365										
OR10J5	127385	broad.mit.edu	37	chr1	159505081	159505081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	acagtgaggtgggagacacaGgtggcaaaggtcttcttccg	15	8	2	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:159505081G>A	ENST00000334857.2	-	1	761	c.717C>T	c.(715-717)acC>acT	p.T239T		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGGAGACACAGGTGGCAAAGG	0.478																																						ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(715-717)acC>acT		olfactory receptor, family 10, subfamily J, member 5							90	88	88					1																	159505081		2203	4300	6503	SO:0001819	synonymous_variant	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505081G>A		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.717C>T	1.37:g.159505081G>A			Somatic					p.T239T	NM_001004469.1	NP_001004469.1	WXS	Illumina GAIIx	Phase_I	Q8NHC4	O10J5_HUMAN			1	761	-	all_hematologic(112;0.0429)		239					B9EH35|Q6IFH2	Silent	SNP	ENST00000334857.2	37	c.717C>T	CCDS30910.1																																																																																				0.478	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		6	130	0	0	0	1	0	6	130					A	159505081	G	A	159505081	2	1	52	1	0	0	0	0	0	0	0	1	10921	987	35	3		3	OR10J5	1	159505081	Silent	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	923903	159505081	89745540	7	9366										
C1orf110	339512	broad.mit.edu	37	chr1	162825078	162825078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tcttcatggggtctttgaggCcagcatcatgtgaaggaggc	14	8	4	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:162825078C>T	ENST00000367910.1	-	4	506	c.386G>A	c.(385-387)gGc>gAc	p.G129D	C1orf110_ENST00000367912.2_Missense_Mutation_p.G128D|C1orf110_ENST00000367911.2_Missense_Mutation_p.G124D|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	129										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GTCTTTGAGGCCAGCATCATG	0.463																																						ENST00000367912.1																			0				endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(382-384)gGc>gAc		chromosome 1 open reading frame 110							186	182	183					1																	162825078		1891	4124	6015	SO:0001583	missense	339512							g.chr1:162825078C>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.386G>A	1.37:g.162825078C>T	ENSP00000356886:p.Gly129Asp		Somatic				C1orf110_ENST00000367911.2_Missense_Mutation_p.G124D|C1orf110_ENST00000367910.1_Missense_Mutation_p.G129D|C1orf110_ENST00000524691.1_Intron	p.G128D			WXS	Illumina GAIIx	Phase_I	Q86UF4	CA110_HUMAN			4	557	-			129					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.383G>A	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133336	0.37630	.	.	ENSG00000185860	ENST00000367912;ENST00000367911;ENST00000367910	.	.	.	3.44	-0.763	0.11030	.	0.650998	0.14412	N	0.321227	T	0.19446	0.0467	M	0.63428	1.95	0.28426	N	0.917476	B;B	0.27498	0.18;0.18	B;B	0.28465	0.09;0.09	T	0.08617	-1.0713	8	0.52906	T	0.07	0.0457	2.4566	0.04531	0.1816:0.3529:0.355:0.1105	.	128;129	Q86UF4-2;Q86UF4	.;CA110_HUMAN	D	128;124;129	.	ENSP00000356886:G129D	G	-	2	0	C1orf110	161091702	0.003000	0.15002	0.001000	0.08648	0.000000	0.00434	0.181000	0.16880	-0.149000	0.11215	-0.898000	0.02899	GGC		0.463	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		175	296	0	0	0	1	0	175	296					T	162825078	C	T	162825078	3	4	52	1	0	0	0	0	1	0	0	0	1985	739	26	3	526	3	C1orf110	1	162825078	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	3319997	162825078	86425543	8	9367										
ILDR2	387597	broad.mit.edu	37	chr1	166896409	166896409	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gtcagcctggatccggtaacCtttgcgaactgttgagaaaa	11	9	1	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:166896409C>G	ENST00000271417.3	-	7	944	c.889G>C	c.(889-891)Ggt>Cgt	p.G297R	ILDR2_ENST00000529071.1_Missense_Mutation_p.G278R|ILDR2_ENST00000528703.1_Missense_Mutation_p.G238R|ILDR2_ENST00000526687.1_Missense_Mutation_p.G189R|ILDR2_ENST00000469934.2_Missense_Mutation_p.G297R|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000525740.1_Missense_Mutation_p.G170R	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	297					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						ATCCGGTAACCTTTGCGAACT	0.448																																						ENST00000271417.3																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(889-891)Ggt>Cgt		immunoglobulin-like domain containing receptor 2							137	131	133					1																	166896409		2203	4300	6503	SO:0001583	missense	387597					integral to membrane		g.chr1:166896409C>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.889G>C	1.37:g.166896409C>G	ENSP00000271417:p.Gly297Arg		Somatic				ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000526687.1_Missense_Mutation_p.G189R|ILDR2_ENST00000469934.2_Missense_Mutation_p.G297R|ILDR2_ENST00000529071.1_Missense_Mutation_p.G278R|ILDR2_ENST00000528703.1_Missense_Mutation_p.G238R|ILDR2_ENST00000525740.1_Missense_Mutation_p.G170R	p.G297R	NM_199351.2	NP_955383.1	WXS	Illumina GAIIx	Phase_I	Q71H61	ILDR2_HUMAN			7	944	-			297						Missense_Mutation	SNP	ENST00000271417.3	37	c.889G>C	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041407	0.93685	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;D;T;T;D;T	0.96745	-0.85;-4.11;-0.47;-0.95;-3.73;-0.44	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	D	0.97986	0.9337	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97866	1.0283	10	0.59425	D	0.04	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	297	Q71H61	ILDR2_HUMAN	R	297;170;297;278;189;238	ENSP00000271417:G297R;ENSP00000436120:G170R;ENSP00000437008:G297R;ENSP00000436882:G278R;ENSP00000434273:G189R;ENSP00000432750:G238R	ENSP00000271417:G297R	G	-	1	0	ILDR2	165163033	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.153000	0.77428	2.793000	0.96121	0.655000	0.94253	GGT		0.448	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		5	177	0	0	0	1	0	5	177					G	166896409	C	G	166896409	3	3	52	1	0	0	0	0	1	0	0	0	7719	681	24	5	1046	5	ILDR2	1	166896409	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	4071331	166896409	82354212	9	9368										
PIGC	5279	broad.mit.edu	37	chr1	172411608	172411608	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tcaccacactggactcaaatAccacagcccaatattggtat	5	13	2	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:172411608A>T	ENST00000367728.1	-	1	1618	c.155T>A	c.(154-156)gTa>gAa	p.V52E	C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000258324.1_Missense_Mutation_p.V52E|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000344529.4_Missense_Mutation_p.V52E			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	52					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						GGACTCAAATACCACAGCCCA	0.493																																						ENST00000367728.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						c.(154-156)gTa>gAa		phosphatidylinositol glycan anchor biosynthesis, class C							125	125	125					1																	172411608		2203	4300	6503	SO:0001583	missense	5279				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr1:172411608A>T	BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"Phosphatidylinositol glycan anchor biosynthesis"	8960	protein-coding gene	gene with protein product	"phosphatidylinositol N-acetylglucosaminyltransferase"	601730	"phosphatidylinositol glycan, class C"			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.155T>A	1.37:g.172411608A>T	ENSP00000356702:p.Val52Glu		Somatic				C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000258324.1_Missense_Mutation_p.V52E|PIGC_ENST00000344529.4_Missense_Mutation_p.V52E|PIGC_ENST00000484368.1_Intron	p.V52E			WXS	Illumina GAIIx	Phase_I	Q92535	PIGC_HUMAN			1	1618	-			52					O14491	Missense_Mutation	SNP	ENST00000367728.1	37	c.155T>A	CCDS1302.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483977	0.84854	.	.	ENSG00000135845	ENST00000344529;ENST00000367728;ENST00000258324	T;T;T	0.54479	0.57;0.57;0.57	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.69851	0.3157	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.76881	-0.2795	10	0.72032	D	0.01	-0.2886	13.8968	0.63778	1.0:0.0:0.0:0.0	.	52	Q92535	PIGC_HUMAN	E	52	ENSP00000356701:V52E;ENSP00000356702:V52E;ENSP00000258324:V52E	ENSP00000258324:V52E	V	-	2	0	PIGC	170678231	1.000000	0.71417	0.935000	0.37517	0.969000	0.65631	8.793000	0.91862	1.970000	0.57323	0.533000	0.62120	GTA		0.493	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084068.1	NM_153747		53	273	0	0	0	1	0	53	273					T	172411608	A	T	172411608	3	4	52	1	0	0	0	0	1	0	0	0	11895	391	14	4	742	4	PIGC	1	172411608	Missense_Mutation	SNP	A	TCGA-NF-A4X2-01A-11D-A28R-08	5515199	172411608	76839013	10	9369										
CD55	1604	broad.mit.edu	37	chr1	207499029	207499029	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ttgatgtaccaggtggcataTtatttggtgcaaccatctcc	9	9	1	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:207499029T>C	ENST00000367064.3	+	4	799	c.541T>C	c.(541-543)Tta>Cta	p.L181L	CD55_ENST00000314754.8_Silent_p.L181L|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367062.4_Silent_p.L181L|CD55_ENST00000367063.2_Silent_p.L181L|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367065.5_Silent_p.L181L|CD55_ENST00000391920.4_Silent_p.L181L|CD55_ENST00000391921.4_Silent_p.L117L	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	181	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	AGGTGGCATATTATTTGGTGC	0.343																																						ENST00000367064.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(541-543)Tta>Cta		CD55 molecule, decay accelerating factor for complement (Cromer blood group)	Chloramphenicol(DB00446)						181	175	177					1																	207499029		2203	4300	6503	SO:0001819	synonymous_variant	1604				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity	g.chr1:207499029T>C	BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"CD molecules", "Blood group antigens"	2665	protein-coding gene	gene with protein product		125240	"decay accelerating factor for complement (CD55, Cromer blood group system)"	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.541T>C	1.37:g.207499029T>C			Somatic				CD55_ENST00000367067.4_3'UTR|CD55_ENST00000314754.8_Silent_p.L181L|CD55_ENST00000391921.4_Silent_p.L117L|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000391920.4_Silent_p.L181L|CD55_ENST00000367062.4_Silent_p.L181L|CD55_ENST00000367065.5_Silent_p.L181L|CD55_ENST00000367063.2_Silent_p.L181L	p.L181L	NM_000574.3	NP_000565.1	WXS	Illumina GAIIx	Phase_I	P08174	DAF_HUMAN			4	799	+			181			Sushi 3.		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Silent	SNP	ENST00000367064.3	37	c.541T>C	CCDS31006.1																																																																																				0.343	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088208.2	NM_000574		18	53	0	0	0	1	0	18	53					C	207499029	T	C	207499029	2	2	52	1	0	0	0	0	0	0	0	1	3026	1490	52	4		4	CD55	1	207499029	Silent	SNP	T	TCGA-NF-A4X2-01A-11D-A28R-08	35087421	207499029	41751592	11	9370										
NSL1	25936	broad.mit.edu	37	chr1	212964986	212964986	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gtcacagcccgcttcgaggtGcagcgcacccgaaagtcttc	11	15	2	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:212964986G>T	ENST00000366977.3	-	1	138	c.120C>A	c.(118-120)tgC>tgA	p.C40*	NSL1_ENST00000366976.1_Nonsense_Mutation_p.C40*|TATDN3_ENST00000531963.1_5'Flank|TATDN3_ENST00000532324.1_5'Flank|TATDN3_ENST00000526997.1_5'Flank|NSL1_ENST00000366975.6_Nonsense_Mutation_p.C40*|NSL1_ENST00000366978.1_5'Flank|TATDN3_ENST00000366974.4_5'Flank|TATDN3_ENST00000366973.4_5'Flank|TATDN3_ENST00000530441.1_5'Flank|TATDN3_ENST00000526641.1_5'Flank|NSL1_ENST00000422588.2_Nonsense_Mutation_p.C40*|NSL1_ENST00000473995.1_5'Flank	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	40					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)		GCTTCGAGGTGCAGCGCACCC	0.647																																						ENST00000366977.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9						c.(118-120)tgC>tgA		NSL1, MIS12 kinetochore complex component							45	51	49					1																	212964986		2203	4300	6503	SO:0001587	stop_gained	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212964986G>T	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.120C>A	1.37:g.212964986G>T	ENSP00000355944:p.Cys40*		Somatic				NSL1_ENST00000366975.6_Nonsense_Mutation_p.C40*|NSL1_ENST00000366976.1_Nonsense_Mutation_p.C40*|NSL1_ENST00000422588.2_Nonsense_Mutation_p.C40*	p.C40*	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	138	-			40					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Nonsense_Mutation	SNP	ENST00000366977.3	37	c.120C>A	CCDS1509.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265442	0.95399	.	.	ENSG00000117697	ENST00000366977;ENST00000422588;ENST00000366975;ENST00000366976	.	.	.	5.13	4.22	0.49857	.	0.117523	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.462	9.251	0.37555	0.0964:0.0:0.9036:0.0	.	.	.	.	X	40	.	.	C	-	3	2	NSL1	211031609	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	1.445000	0.35079	1.387000	0.46486	0.655000	0.94253	TGC		0.647	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		21	154	1	0	3.51602e-12	1	4.05914e-12	21	154					T	212964986	G	T	212964986	4	4	52	1	0	0	0	0	0	1	0	0	10682	1311	46	5	838	5	NSL1	1	212964986	Nonsense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	5465957	212964986	36285635	12	9371										
DISC1	27185	broad.mit.edu	37	chr1	231954196	231954196	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	agttccaggaatgtcaaaaaGctgggaagtgttaaagaaga	12	4	1	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:231954196G>C	ENST00000602281.1	+	9	1967	c.1914G>C	c.(1912-1914)aaG>aaC	p.K638N	DISC1_ENST00000366633.3_Missense_Mutation_p.K638N|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000539444.1_3'UTR|DISC1_ENST00000439617.2_Missense_Mutation_p.K638N|DISC1_ENST00000602873.1_3'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.K638N|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.K638N|DISC1_ENST00000537876.1_Intron	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	638	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|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)				ATGTCAAAAAGCTGGGAAGTG	0.478																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1912-1914)aaG>aaC		disrupted in schizophrenia 1							87	92	90					1																	231954196		2203	4300	6503	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231954196G>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.1914G>C	1.37:g.231954196G>C	ENSP00000473425:p.Lys638Asn		Somatic				DISC1_ENST00000539444.1_3'UTR|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.K638N|DISC1_ENST00000366633.3_Missense_Mutation_p.K638N|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000535983.1_Missense_Mutation_p.K638N|DISC1_ENST00000602873.1_3'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.K638N	p.K638N	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			9	1967	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	638			Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|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	ENST00000602281.1	37	c.1914G>C	CCDS59205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.36|17.36	3.370643|3.370643	0.61624|0.61624	.|.	.|.	ENSG00000162946|ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000366633|ENST00000422590	T;T;T;T|.	0.11169|.	3.0;2.81;2.8;2.98|.	5.23|5.23	-1.73|-1.73	0.08081|0.08081	.|.	0.511058|.	0.22324|.	N|.	0.061553|.	T|T	0.36826|0.36826	0.0981|0.0981	L|L	0.42245|0.42245	1.32|1.32	0.09310|0.09310	N|N	1|1	B;D;B;D;B;D;D;B;P;B;D;B;D;P|.	0.76494|.	0.42;0.999;0.42;0.999;0.42;0.996;0.999;0.42;0.48;0.264;0.999;0.264;0.999;0.48|.	B;D;B;D;B;P;P;B;B;B;P;B;D;B|.	0.65010|.	0.155;0.931;0.155;0.931;0.155;0.9;0.907;0.155;0.219;0.09;0.907;0.09;0.931;0.204|.	T|T	0.39722|0.39722	-0.9600|-0.9600	10|5	0.49607|.	T|.	0.09|.	-12.5533|-12.5533	9.6412|9.6412	0.39839|0.39839	0.6921:0.0:0.3079:0.0|0.6921:0.0:0.3079:0.0	.|.	670;516;670;638;638;516;638;638;638;638;638;638;638;638|.	C4P096;C4P094;E2QRA4;C4P0A3;C4P098;F5H1F1;C4P0A4;A6NLH2;C4P0B6;A7E2W8;Q5T409;Q9NRI5-2;Q9NRI5;Q9NRI5-3|.	.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.|.	N|T	638;638;638;670;516;638;638|41	ENSP00000403888:K638N;ENSP00000355596:K638N;ENSP00000443996:K638N;ENSP00000355593:K638N|.	ENSP00000355593:K638N|.	K|S	+|+	3|2	2|0	DISC1|DISC1	230020819|230020819	0.009000|0.009000	0.17119|0.17119	0.000000|0.000000	0.03702|0.03702	0.920000|0.920000	0.55202|0.55202	0.280000|0.280000	0.18790|0.18790	-0.160000|-0.160000	0.11002|0.11002	0.591000|0.591000	0.81541|0.81541	AAG|AGC		0.478	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		34	136	0	0	0	1	0	34	136					C	231954196	G	C	231954196	3	2	52	1	0	0	0	0	1	0	0	0	4540	962	34	5	2321	5	DISC1	1	231954196	Missense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	18989210	231954196	17296425	13	9372										
LYST	1130	broad.mit.edu	37	chr1	235955054	235955055	+	Frame_Shift_Ins	INS	-	-	TTTT													0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	atttgtttcttttctttatcINSttctttcctttttctgtagt							TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:235955054_235955055insTTTT	ENST00000389794.3	-	12	4661_4662	c.4487_4488insAAAA	c.(4486-4488)aagfs	p.K1496fs	LYST_ENST00000536965.1_Intron|LYST_ENST00000389793.2_Frame_Shift_Ins_p.K1496fs			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1496					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)			TTTTCTTTATCTTCTTTCCTTT	0.361																																						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.(4486-4488)aatfs		lysosomal trafficking regulator																																				SO:0001589	frameshift_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235955054_235955055insTTTT	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.4487_4488insAAAA	1.37:g.235955054_235955055insTTTT	ENSP00000374444:p.Lys1496fs		Somatic				LYST_ENST00000389793.2_Frame_Shift_Ins_p.N1496fs|LYST_ENST00000536965.1_Intron	p.N1496fs			WXS	Illumina GAIIx	Phase_I	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		12	4661_4662	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1496					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Frame_Shift_Ins	INS	ENST00000389794.3	37	c.4487_4488insAAAA	CCDS31062.1																																																																																				0.361	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			80	53						80	53	---	---	---	---	TTTT	235955055	-	TTTT	235955054	7	5	52	1	0	1	1	0	0	0	0	0	9137	912	32	0	7085	0	LYST	1	235955054	Frame_Shift_Ins	INS	-	TCGA-NF-A4X2-01A-11D-A28R-08	4000858	235955054	13295567	14	9373										
OR2T1	26696	broad.mit.edu	37	chr1	248569431	248569431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ggaagatattaccttatatcGgcacaactgtaggatcaatg	9	7	1	1	rs193920936		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:248569431G>A	ENST00000366474.1	+	1	136	c.136G>A	c.(136-138)Ggc>Agc	p.G46S		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTTATATCGGCACAACTGT	0.383																																						ENST00000366474.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(136-138)Ggc>Agc		olfactory receptor, family 2, subfamily T, member 1							153	151	152					1																	248569431		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569431G>A	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"GPCR / Class A : Olfactory receptors"	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.136G>A	1.37:g.248569431G>A	ENSP00000355430:p.Gly46Ser		Somatic					p.G46S	NM_030904.1	NP_112166.1	WXS	Illumina GAIIx	Phase_I	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	136	+	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)		46					Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.136G>A	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	G	0.121	-1.125018	0.01770	.	.	ENSG00000175143	ENST00000366474	T	0.02631	4.22	4.75	3.62	0.41486	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47959	-0.9076	9	0.02654	T	1	.	4.3922	0.11346	0.7313:0.0:0.0957:0.173	.	46	O43869	OR2T1_HUMAN	S	46	ENSP00000355430:G46S	ENSP00000355430:G46S	G	+	1	0	OR2T1	246636054	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.571000	0.05889	0.770000	0.33336	-0.350000	0.07774	GGC		0.383	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			28	77	0	0	0	1	0	28	77					A	248569431	G	A	248569431	3	1	52	1	0	0	0	0	1	0	0	0	11025	1116	39	1	138	1	OR2T1	1	248569431	Missense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	12614377	248569431	681190	15	9374										
NRXN1	9378	broad.mit.edu	37	chr2	50765622	50765622	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gatgcagcccacgtagccatAgttgagcagagcagtccaca	11	12	0	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:50765622A>C	ENST00000406316.2	-	10	3388	c.1912T>G	c.(1912-1914)Tat>Gat	p.Y638D	NRXN1_ENST00000405472.3_Missense_Mutation_p.Y630D|NRXN1_ENST00000401669.2_Missense_Mutation_p.Y638D|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.Y638D|NRXN1_ENST00000402717.3_Missense_Mutation_p.Y630D|NRXN1_ENST00000404971.1_Missense_Mutation_p.Y678D	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	638	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)			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)			ACGTAGCCATAGTTGAGCAGA	0.517																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2032-2034)Tat>Gat		neurexin 1							159	171	167					2																	50765622		2200	4300	6500	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50765622A>C	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1912T>G	2.37:g.50765622A>C	ENSP00000384311:p.Tyr638Asp		Somatic				NRXN1_ENST00000402717.3_Missense_Mutation_p.Y630D|NRXN1_ENST00000401669.2_Missense_Mutation_p.Y638D|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.Y638D|NRXN1_ENST00000405472.3_Missense_Mutation_p.Y630D|NRXN1_ENST00000406316.2_Missense_Mutation_p.Y638D	p.Y678D	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	3371	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	638			EGF-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2032T>G	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242412	0.58995	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.80874	0.4707	L	0.34521	1.04	0.38725	D	0.953522	D;D;D	0.69078	0.995;0.997;0.992	D;P;D	0.69654	0.965;0.901;0.917	T	0.79813	-0.1645	10	0.26408	T	0.33	.	15.1659	0.72825	1.0:0.0:0.0:0.0	.	678;638;630	Q9ULB1-3;F8WB18;A7E294	.;.;.	D	678;638;630;638;679;630;638	ENSP00000385142:Y678D;ENSP00000384311:Y638D;ENSP00000434015:Y630D;ENSP00000385017:Y638D;ENSP00000385434:Y630D;ENSP00000385681:Y638D	ENSP00000385017:Y638D	Y	-	1	0	NRXN1	50619126	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.136000	0.77285	2.166000	0.68216	0.477000	0.44152	TAT		0.517	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			79	154	0	0	0	1	0	79	154					C	50765622	A	C	50765622	3	2	52	1	0	0	0	0	1	0	0	0	10674	420	15	4	2930	4	NRXN1	2	50765622	Missense_Mutation	SNP	A	TCGA-NF-A4X2-01A-11D-A28R-08		50765622	192433751	16	9375										
ZNF638	27332	broad.mit.edu	37	chr2	71653747	71653747	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	acttaacttaaagaagaaaaAggggaaaacttccactcctc	6	9	0	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:71653747A>T	ENST00000409544.1	+	24	5378	c.4748A>T	c.(4747-4749)aAg>aTg	p.K1583M	ZNF638_ENST00000409407.1_Missense_Mutation_p.K523M|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.K1583M	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1583	Poly-Lys.				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						AAGAAGAAAAAGGGGAAAACT	0.418																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(4747-4749)aAg>aTg		zinc finger protein 638							97	96	96					2																	71653747		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71653747A>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.4748A>T	2.37:g.71653747A>T	ENSP00000386433:p.Lys1583Met		Somatic				ZNF638_ENST00000264447.4_Missense_Mutation_p.K1583M|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.K523M	p.K1583M	NM_001252612.1	NP_001239541.1	WXS	Illumina GAIIx	Phase_I	Q14966	ZN638_HUMAN			24	5378	+			1583			Poly-Lys.		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.4748A>T	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.401328	0.42613	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.49720	0.77;0.77;1.15	5.73	3.37	0.38596	.	0.268968	0.31976	N	0.006763	T	0.42040	0.1185	L	0.27053	0.805	0.80722	D	1	D;D	0.64830	0.994;0.99	P;P	0.55161	0.77;0.594	T	0.33752	-0.9856	10	0.56958	D	0.05	-5.4675	4.1102	0.10055	0.6873:0.0:0.1626:0.1502	.	1583;1583	Q14966-3;Q14966	.;ZN638_HUMAN	M	1583;1583;523;523	ENSP00000264447:K1583M;ENSP00000386433:K1583M;ENSP00000386813:K523M	ENSP00000264447:K1583M	K	+	2	0	ZNF638	71507255	0.998000	0.40836	0.882000	0.34594	0.464000	0.32679	1.918000	0.40006	0.452000	0.26830	0.533000	0.62120	AAG		0.418	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		10	44	0	0	0	1	0	10	44					T	71653747	A	T	71653747	3	4	52	1	0	0	0	0	1	0	0	0	18070	72	3	4	4838	4	ZNF638	2	71653747	Missense_Mutation	SNP	A	TCGA-NF-A4X2-01A-11D-A28R-08	20888125	71653747	171545626	17	9376										
SLC5A7	60482	broad.mit.edu	37	chr2	108627055	108627055	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	attcttaaccaacatttgcaTctcctatctagccaagtatc	3	12	3	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:108627055T>G	ENST00000264047.2	+	9	1757	c.1481T>G	c.(1480-1482)aTc>aGc	p.I494S	SLC5A7_ENST00000540517.1_Missense_Mutation_p.I389S|SLC5A7_ENST00000409059.1_Missense_Mutation_p.I494S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	494					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AACATTTGCATCTCCTATCTA	0.353																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1480-1482)aTc>aGc		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						102	99	100					2																	108627055		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108627055T>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.1481T>G	2.37:g.108627055T>G	ENSP00000264047:p.Ile494Ser		Somatic				SLC5A7_ENST00000540517.1_Missense_Mutation_p.I389S|SLC5A7_ENST00000409059.1_Missense_Mutation_p.I494S	p.I494S	NM_021815.2	NP_068587.1	WXS	Illumina GAIIx	Phase_I	Q9GZV3	SC5A7_HUMAN			9	1757	+			494					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1481T>G	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.735749	0.49045	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.92752	-2.85;-3.1;-2.85	5.95	4.8	0.61643	.	0.244283	0.47852	D	0.000208	D	0.89770	0.6811	L	0.54323	1.7	0.29345	N	0.865763	B	0.11235	0.004	B	0.19946	0.027	D	0.84892	0.0837	10	0.87932	D	0	-6.7259	12.2113	0.54381	0.0:0.0664:0.0:0.9336	.	494	Q9GZV3	SC5A7_HUMAN	S	494;389;494	ENSP00000387346:I494S;ENSP00000445351:I389S;ENSP00000264047:I494S	ENSP00000264047:I494S	I	+	2	0	SLC5A7	107993487	0.998000	0.40836	0.617000	0.29091	0.920000	0.55202	6.300000	0.72776	1.073000	0.40885	0.528000	0.53228	ATC		0.353	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			8	22	0	0	0	1	0	8	22					G	108627055	T	G	108627055	3	3	52	1	0	0	0	0	1	0	0	0	14685	1435	50	4	1511	4	SLC5A7	2	108627055	Missense_Mutation	SNP	T	TCGA-NF-A4X2-01A-11D-A28R-08	36973308	108627055	134572318	18	9377										
RIF1	55183	broad.mit.edu	37	chr2	152331526	152331526	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	aactaagttgtatggcaaacTctgtaataaaaaatctacag	6	6	2	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:152331526T>G	ENST00000243326.5	+	35	7843	c.7360T>G	c.(7360-7362)Tct>Gct	p.S2454A	RIF1_ENST00000430328.2_Missense_Mutation_p.S2428A|RIF1_ENST00000428287.2_Missense_Mutation_p.S2428A|RIF1_ENST00000444746.2_Missense_Mutation_p.S2454A|RIF1_ENST00000453091.2_Missense_Mutation_p.S2428A			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)		TATGGCAAACTCTGTAATAAA	0.343																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(7360-7362)Tct>Gct		RAP1 interacting factor homolog (yeast)							65	65	65					2																	152331526		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152331526T>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.7360T>G	2.37:g.152331526T>G	ENSP00000243326:p.Ser2454Ala		Somatic				RIF1_ENST00000428287.2_Missense_Mutation_p.S2428A|RIF1_ENST00000453091.2_Missense_Mutation_p.S2428A|RIF1_ENST00000444746.2_Missense_Mutation_p.S2454A|RIF1_ENST00000430328.2_Missense_Mutation_p.S2428A	p.S2454A			WXS	Illumina GAIIx	Phase_I	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	35	7843	+			2454			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.7360T>G	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460906	0.26248	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.10477	2.87;2.89;2.89;2.87;2.89	5.72	4.55	0.56014	.	0.316641	0.39274	N	0.001411	T	0.09512	0.0234	L	0.27053	0.805	0.80722	D	1	B;B	0.26876	0.007;0.162	B;B	0.29942	0.019;0.109	T	0.14090	-1.0485	10	0.48119	T	0.1	-0.485	11.7951	0.52096	0.1319:0.0:0.0:0.8681	.	2454;2428	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	A	2454;2428;2428;2454;2428	ENSP00000390181:S2454A;ENSP00000414615:S2428A;ENSP00000415691:S2428A;ENSP00000243326:S2454A;ENSP00000416123:S2428A	ENSP00000243326:S2454A	S	+	1	0	RIF1	152039772	0.996000	0.38824	0.971000	0.41717	0.678000	0.39670	1.847000	0.39299	0.950000	0.37743	0.482000	0.46254	TCT		0.343	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			4	25	0	0	0	1	0	4	25					G	152331526	T	G	152331526	3	3	52	1	0	0	0	0	1	0	0	0	13374	1551	54	4	7498	4	RIF1	2	152331526	Missense_Mutation	SNP	T	TCGA-NF-A4X2-01A-11D-A28R-08	43704471	152331526	90867847	19	9378										
CYTIP	9595	broad.mit.edu	37	chr2	158272436	158272436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	agcactcatcatctgtactcGtctgccgactgaaggcaccc	8	15	4	1	rs367635230		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:158272436G>A	ENST00000264192.3	-	8	954	c.833C>T	c.(832-834)aCg>aTg	p.T278M	CYTIP_ENST00000540637.1_Missense_Mutation_p.T172M	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	278	Ser-rich.			T -> Q (in Ref. 6; AAA16575). {ECO:0000305}.	regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						ATCTGTACTCGTCTGCCGACT	0.542																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(832-834)aCg>aTg		cytohesin 1 interacting protein							98	91	93					2																	158272436		2203	4300	6503	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158272436G>A	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"cytohesin binding protein HE", "cytohesin binder and regulator"	604448	"pleckstrin homology, Sec7 and coiled-coil domains, binding protein"	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.833C>T	2.37:g.158272436G>A	ENSP00000264192:p.Thr278Met		Somatic				CYTIP_ENST00000540637.1_Missense_Mutation_p.T172M	p.T278M	NM_004288.4	NP_004279.3	WXS	Illumina GAIIx	Phase_I	O60759	CYTIP_HUMAN			8	954	-			278	T -> Q (in Ref. 5; AAA16575).		Ser-rich.		B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.833C>T	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896619	0.91962	.	.	ENSG00000115165	ENST00000264192;ENST00000540637	T;T	0.46451	2.17;0.87	5.96	5.96	0.96718	.	0.307228	0.35067	N	0.003468	T	0.57917	0.2086	M	0.63428	1.95	0.36972	D	0.89387	D	0.89917	1.0	P	0.54706	0.759	T	0.61840	-0.6980	10	0.52906	T	0.07	-7.0724	19.9958	0.97383	0.0:0.0:1.0:0.0	.	278	O60759	CYTIP_HUMAN	M	278;172	ENSP00000264192:T278M;ENSP00000440801:T172M	ENSP00000264192:T278M	T	-	2	0	CYTIP	157980682	0.998000	0.40836	0.994000	0.49952	0.945000	0.59286	4.193000	0.58385	2.826000	0.97356	0.655000	0.94253	ACG		0.542	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		13	48	0	0	0	1	0	13	48					A	158272436	G	A	158272436	3	1	52	1	0	0	0	0	1	0	0	0	4209	1145	40	1	250	1	CYTIP	2	158272436	Missense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	5940910	158272436	84926937	20	9379										
KCNH7	90134	broad.mit.edu	37	chr2	163302838	163302838	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	cagtgtatatgaccaacagcAggataagccagtcccagact	9	11	0	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:163302838A>T	ENST00000332142.5	-	7	1343	c.1244T>A	c.(1243-1245)cTg>cAg	p.L415Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.L408Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	415					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GACCAACAGCAGGATAAGCCA	0.453																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1243-1245)cTg>cAg		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						93	88	90					2																	163302838		2203	4299	6502	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163302838A>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1244T>A	2.37:g.163302838A>T	ENSP00000331727:p.Leu415Gln		Somatic				KCNH7_ENST00000328032.4_Missense_Mutation_p.L408Q	p.L415Q	NM_033272.3	NP_150375.2	WXS	Illumina GAIIx	Phase_I	Q9NS40	KCNH7_HUMAN			7	1343	-			415					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.1244T>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999771	0.74818	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.97941	-4.62;-4.62	5.55	5.55	0.83447	.	0.136857	0.50627	D	0.000113	D	0.99077	0.9683	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.968	D	0.99418	1.0932	10	0.87932	D	0	.	15.6901	0.77442	1.0:0.0:0.0:0.0	.	408;415	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	Q	415;408	ENSP00000331727:L415Q;ENSP00000333781:L408Q	ENSP00000333781:L408Q	L	-	2	0	KCNH7	163011084	1.000000	0.71417	0.731000	0.30826	0.715000	0.41141	9.281000	0.95811	2.114000	0.64651	0.528000	0.53228	CTG		0.453	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		5	25	0	0	0	1	0	5	25					T	163302838	A	T	163302838	3	4	52	1	0	0	0	0	1	0	0	0	8046	188	7	4	2452	4	KCNH7	2	163302838	Missense_Mutation	SNP	A	TCGA-NF-A4X2-01A-11D-A28R-08	5030402	163302838	79896535	21	9380										
PGAP1	80055	broad.mit.edu	37	chr2	197707534	197707534	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ggtttacatggatcaggattAagtttaaaataatacctata	7	4	1	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:197707534A>C	ENST00000354764.4	-	26	2655	c.2541T>G	c.(2539-2541)ctT>ctG	p.L847L		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	847					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						GATCAGGATTAAGTTTAAAAT	0.279																																						ENST00000354764.3																			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.(2539-2541)ctT>ctG		post-GPI attachment to proteins 1							57	66	63					2																	197707534		2199	4288	6487	SO:0001819	synonymous_variant	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.chr2:197707534A>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.2541T>G	2.37:g.197707534A>C			Somatic					p.L847L	NM_024989.3	NP_079265.2	WXS	Illumina GAIIx	Phase_I	Q75T13	PGAP1_HUMAN			26	2655	-			847					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Silent	SNP	ENST00000354764.4	37	c.2541T>G	CCDS2318.1																																																																																				0.279	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		34	18	0	0	0	1	0	34	18					C	197707534	A	C	197707534	2	2	52	1	0	0	0	0	0	0	0	1	11786	349	13	4		4	PGAP1	2	197707534	Silent	SNP	A	TCGA-NF-A4X2-01A-11D-A28R-08	34404696	197707534	45491839	22	9381										
SGOL1	151648	broad.mit.edu	37	chr3	20216367	20216367	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ctctttcgaattcaaaagacTtccctgccaaatgactggtt	6	11	2	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:20216367T>A	ENST00000263753.4	-	6	795	c.656A>T	c.(655-657)aAg>aTg	p.K219M	SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000412868.1_Missense_Mutation_p.K219M|SGOL1_ENST00000421451.1_Missense_Mutation_p.K219M|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000412997.1_Missense_Mutation_p.K219M|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000443724.1_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	219					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						TTCAAAAGACTTCCCTGCCAA	0.373																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(655-657)aAg>aTg		shugoshin-like 1 (S. pombe)							133	128	130					3																	20216367		2203	4300	6503	SO:0001583	missense	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.chr3:20216367T>A	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.656A>T	3.37:g.20216367T>A	ENSP00000263753:p.Lys219Met		Somatic				SGOL1_ENST00000421451.1_Missense_Mutation_p.K219M|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.K219M|SGOL1_ENST00000412868.1_Missense_Mutation_p.K219M|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000437051.1_Intron	p.K219M	NM_001199251.1	NP_001186180.1	WXS	Illumina GAIIx	Phase_I	Q5FBB7	SGOL1_HUMAN			6	1007	-			219					Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	ENST00000263753.4	37	c.656A>T	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.868211	0.32977	.	.	ENSG00000129810	ENST00000263753;ENST00000421451;ENST00000412997;ENST00000412868	T;T;T;T	0.32753	1.44;1.44;1.46;1.46	5.96	0.591	0.17465	.	1.103650	0.06698	N	0.770929	T	0.16896	0.0406	N	0.22421	0.69	0.09310	N	1	B;P	0.38420	0.444;0.63	B;B	0.29942	0.109;0.109	T	0.18618	-1.0331	10	0.72032	D	0.01	.	3.9432	0.09336	0.1166:0.0667:0.2138:0.6029	.	219;219	B5BUA4;Q5FBB7	.;SGOL1_HUMAN	M	219	ENSP00000263753:K219M;ENSP00000414129:K219M;ENSP00000410458:K219M;ENSP00000406880:K219M	ENSP00000263753:K219M	K	-	2	0	SGOL1	20191371	0.001000	0.12720	0.000000	0.03702	0.727000	0.41649	0.886000	0.28241	-0.114000	0.11936	0.454000	0.30748	AAG		0.373	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		5	79	0	0	0	1	0	5	79					A	20216367	T	A	20216367	3	1	52	1	0	0	0	0	1	0	0	0	14231	1609	56	4	1065	4	SGOL1	3	20216367	Missense_Mutation	SNP	T	TCGA-NF-A4X2-01A-11D-A28R-08		20216367	177806063	23	9382										
SUSD5	26032	broad.mit.edu	37	chr3	33216515	33216515	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	cccccatttccaagccggtgCggccctgcaggatggtgtgt	13	14	0	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:33216515C>G	ENST00000309558.3	-	4	878	c.461G>C	c.(460-462)cGc>cCc	p.R154P		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	154	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)	p.R154H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAAGCCGGTGCGGCCCTGCAG	0.567																																						ENST00000309558.3																			1	Substitution - Missense(1)	p.R154H(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(460-462)cGc>cCc		sushi domain containing 5							65	71	69					3																	33216515		2041	4176	6217	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33216515C>G	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.461G>C	3.37:g.33216515C>G	ENSP00000308727:p.Arg154Pro		Somatic					p.R154P	NM_015551.1	NP_056366.1	WXS	Illumina GAIIx	Phase_I	O60279	SUSD5_HUMAN			4	878	-			154			Sushi.			Missense_Mutation	SNP	ENST00000309558.3	37	c.461G>C	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313702	0.81358	.	.	ENSG00000173705	ENST00000309558	T	0.64618	-0.11	5.72	1.4	0.22301	Complement control module (2);Sushi/SCR/CCP (3);	0.255286	0.39146	N	0.001448	T	0.51466	0.1676	N	0.08118	0	0.34968	D	0.752848	D	0.59767	0.986	P	0.62649	0.905	T	0.57745	-0.7758	10	0.36615	T	0.2	-12.4328	6.3003	0.21109	0.0:0.445:0.0:0.555	.	154	O60279	SUSD5_HUMAN	P	154	ENSP00000308727:R154P	ENSP00000308727:R154P	R	-	2	0	SUSD5	33191519	1.000000	0.71417	0.974000	0.42286	0.941000	0.58515	2.331000	0.43894	0.358000	0.24211	0.561000	0.74099	CGC		0.567	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		40	70	0	0	0	1	0	40	70					G	33216515	C	G	33216515	3	3	52	1	0	0	0	0	1	0	0	0	15426	768	27	5	1436	5	SUSD5	3	33216515	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	13000148	33216515	164805915	24	9383										
CCR3	1232	broad.mit.edu	37	chr3	46306665	46306665	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gtgaaatgacaacctcactaGatacagttgagacctttggt	9	8	1	4			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:46306665G>C	ENST00000357422.2	+	4	559	c.16G>C	c.(16-18)Gat>Cat	p.D6H	CCR3_ENST00000395942.2_Missense_Mutation_p.D6H|CCR3_ENST00000545097.1_Missense_Mutation_p.D27H|CCR3_ENST00000541018.1_Missense_Mutation_p.D6H|CCR3_ENST00000395940.2_Missense_Mutation_p.D6H			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	6					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AACCTCACTAGATACAGTTGA	0.438																																						ENST00000357422.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18						c.(16-18)Gat>Cat		chemokine (C-C motif) receptor 3							103	99	100					3																	46306665		2203	4300	6503	SO:0001583	missense	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46306665G>C	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.16G>C	3.37:g.46306665G>C	ENSP00000350003:p.Asp6His		Somatic				CCR3_ENST00000395940.2_Missense_Mutation_p.D6H|CCR3_ENST00000541018.1_Missense_Mutation_p.D6H|CCR3_ENST00000395942.2_Missense_Mutation_p.D6H|CCR3_ENST00000545097.1_Missense_Mutation_p.D27H	p.D6H			WXS	Illumina GAIIx	Phase_I	P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	559	+			6					B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	c.16G>C	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732678	0.30684	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000452454;ENST00000457243;ENST00000395942	T;T;T;T;T;T;T	0.77620	-0.33;-0.36;-0.33;-0.33;2.48;-1.11;-0.33	5.52	-0.95	0.10372	.	7739.210000	0.00166	N	0.000000	T	0.56307	0.1976	N	0.08118	0	0.09310	N	1	B;P;P;B	0.47302	0.129;0.893;0.603;0.257	B;B;B;B	0.39027	0.044;0.288;0.109;0.031	T	0.53549	-0.8423	10	0.66056	D	0.02	.	1.9528	0.03370	0.2632:0.217:0.4084:0.1114	.	6;6;27;6	Q8TDP5;Q8TDP6;F5GWL6;P51677	.;.;.;CCR3_HUMAN	H	6;27;6;6;6;6;6	ENSP00000350003:D6H;ENSP00000441600:D27H;ENSP00000440097:D6H;ENSP00000379271:D6H;ENSP00000389336:D6H;ENSP00000401822:D6H;ENSP00000379273:D6H	ENSP00000350003:D6H	D	+	1	0	CCR3	46281669	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.285000	0.08410	-0.542000	0.06249	0.563000	0.77884	GAT		0.438	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			8	47	0	0	0	1	0	8	47					C	46306665	G	C	46306665	3	2	52	1	0	0	0	0	1	0	0	0	2944	942	33	2	85	2	CCR3	3	46306665	Missense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	13090150	46306665	151715765	25	9384										
PLXNA1	5361	broad.mit.edu	37	chr3	126733148	126733148	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	cctgcgacaccactgcgctgCcgacacacctgcatcgtgga	10	17	0	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:126733148C>A	ENST00000393409.2	+	11	2534	c.2534C>A	c.(2533-2535)gCc>gAc	p.A845D	PLXNA1_ENST00000251772.4_Missense_Mutation_p.A822D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	845					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)		CACTGCGCTGCCGACACACCT	0.711																																						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.(2464-2466)gCc>gAc		plexin A1							9	9	9					3																	126733148		2149	4198	6347	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126733148C>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2534C>A	3.37:g.126733148C>A	ENSP00000377061:p.Ala845Asp		Somatic				PLXNA1_ENST00000393409.2_Missense_Mutation_p.A845D	p.A822D			WXS	Illumina GAIIx	Phase_I	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	11	2534	+			845						Missense_Mutation	SNP	ENST00000393409.2	37	c.2465C>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	9.428	1.084702	0.20309	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.17691	2.26;2.26	3.64	1.71	0.24356	.	0.291275	0.28161	N	0.016368	T	0.19127	0.0459	M	0.65975	2.015	0.09310	N	1	B	0.19935	0.04	B	0.30029	0.11	T	0.22800	-1.0206	10	0.28530	T	0.3	.	9.3128	0.37915	0.1644:0.677:0.1586:0.0	.	845	Q9UIW2	PLXA1_HUMAN	D	845;822	ENSP00000377061:A845D;ENSP00000251772:A822D	ENSP00000251772:A822D	A	+	2	0	PLXNA1	128215838	0.048000	0.20356	0.001000	0.08648	0.026000	0.11368	2.350000	0.44063	0.286000	0.22352	0.491000	0.48974	GCC		0.711	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		4	25	1	0	0.150653	1	0.151722	4	25					A	126733148	C	A	126733148	3	1	52	1	0	0	0	0	1	0	0	0	12128	739	26	5	2576	5	PLXNA1	3	126733148	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	80426483	126733148	71289282	26	9385										
DNAJC13	23317	broad.mit.edu	37	chr3	132202305	132202305	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ggatggcgaccacttcagtcCataccccagcttaagtggtg	11	12	1	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:132202305C>G	ENST00000260818.6	+	28	3314	c.3066C>G	c.(3064-3066)tcC>tcG	p.S1022S		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1022					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						CACTTCAGTCCATACCCCAGC	0.458																																						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.(3064-3066)tcC>tcG		DnaJ (Hsp40) homolog, subfamily C, member 13							181	152	162					3																	132202305		2203	4300	6503	SO:0001819	synonymous_variant	23317						heat shock protein binding	g.chr3:132202305C>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.3066C>G	3.37:g.132202305C>G			Somatic					p.S1022S	NM_015268.3	NP_056083.3	WXS	Illumina GAIIx	Phase_I	O75165	DJC13_HUMAN			28	3314	+			1022					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	c.3066C>G	CCDS33857.1																																																																																				0.458	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		11	84	0	0	0	1	0	11	84					G	132202305	C	G	132202305	2	3	52	1	0	0	0	0	0	0	0	1	4634	581	21	5		5	DNAJC13	3	132202305	Silent	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	5469157	132202305	65820125	27	9386										
ARMC8	25852	broad.mit.edu	37	chr3	137942260	137942260	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	cttgcttcagcaagaaacctCaagcacagagctgaaaactg	8	11	2	3			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:137942260C>T	ENST00000469044.1	+	4	495	c.224C>T	c.(223-225)tCa>tTa	p.S75L	ARMC8_ENST00000471453.1_Missense_Mutation_p.S61L|ARMC8_ENST00000461822.1_Missense_Mutation_p.S75L|ARMC8_ENST00000485396.1_Missense_Mutation_p.S33L|ARMC8_ENST00000491704.1_Missense_Mutation_p.S33L|ARMC8_ENST00000489213.1_Missense_Mutation_p.S33L|ARMC8_ENST00000481646.1_Missense_Mutation_p.S61L|ARMC8_ENST00000393058.3_Missense_Mutation_p.S65L|ARMC8_ENST00000538260.1_Missense_Mutation_p.S75L|ARMC8_ENST00000358441.2_Missense_Mutation_p.S61L|ARMC8_ENST00000470821.1_Missense_Mutation_p.S75L	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	75										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CAAGAAACCTCAAGCACAGAG	0.383																																						ENST00000469044.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.(223-225)tCa>tTa		armadillo repeat containing 8							80	78	79					3																	137942260		2203	4300	6503	SO:0001583	missense	25852						binding	g.chr3:137942260C>T		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"Armadillo repeat containing"	24999	protein-coding gene	gene with protein product	"GID complex subunit 5, VID28 homolog (S. cerevisiae)"					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.224C>T	3.37:g.137942260C>T	ENSP00000419413:p.Ser75Leu		Somatic				ARMC8_ENST00000538260.1_Missense_Mutation_p.S75L|ARMC8_ENST00000461822.1_Missense_Mutation_p.S75L|ARMC8_ENST00000358441.2_Missense_Mutation_p.S61L|ARMC8_ENST00000485396.1_Missense_Mutation_p.S33L|ARMC8_ENST00000489213.1_Missense_Mutation_p.S33L|ARMC8_ENST00000471453.1_Missense_Mutation_p.S61L|ARMC8_ENST00000393058.3_Missense_Mutation_p.S65L|ARMC8_ENST00000481646.1_Missense_Mutation_p.S61L|ARMC8_ENST00000470821.1_Missense_Mutation_p.S75L|ARMC8_ENST00000491704.1_Missense_Mutation_p.S33L	p.S75L	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	WXS	Illumina GAIIx	Phase_I	Q8IUR7	ARMC8_HUMAN			4	495	+			75					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37	c.224C>T		.	.	.	.	.	.	.	.	.	.	C	18.40	3.616551	0.66672	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461600;ENST00000466749;ENST00000358441;ENST00000489213;ENST00000461822;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000471709;ENST00000538260;ENST00000393058	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;-0.23	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76751	0.4031	L	0.44542	1.39	0.80722	D	1	B;P;B;D;B;P;P	0.59357	0.441;0.925;0.387;0.985;0.387;0.879;0.571	B;P;B;D;B;P;B	0.72338	0.123;0.608;0.12;0.977;0.131;0.472;0.281	T	0.74206	-0.3740	10	0.41790	T	0.15	-20.1418	17.7564	0.88450	0.0:1.0:0.0:0.0	.	33;75;75;75;61;75;61	B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2;G5E9V6;Q8IUR7-6	.;.;.;ARMC8_HUMAN;.;.;.	L	61;75;33;75;33;61;33;75;33;61;75;75;75;65	ENSP00000420333:S61L;ENSP00000419413:S75L;ENSP00000417304:S33L;ENSP00000418074:S75L;ENSP00000417699:S33L;ENSP00000351221:S61L;ENSP00000418412:S33L;ENSP00000420706:S75L;ENSP00000417049:S33L;ENSP00000420440:S61L;ENSP00000418405:S75L;ENSP00000420719:S75L;ENSP00000441592:S75L;ENSP00000376778:S65L	ENSP00000351221:S61L	S	+	2	0	ARMC8	139424950	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	7.792000	0.85828	2.802000	0.96397	0.650000	0.86243	TCA		0.383	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		37	11	0	0	0	1	0	37	11					T	137942260	C	T	137942260	3	4	52	1	0	0	0	0	1	0	0	0	957	838	29	3	196	3	ARMC8	3	137942260	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	5739955	137942260	60080170	28	9387										
CHST2	9435	broad.mit.edu	37	chr3	142840559	142840559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	agtgccgcaagtaccgcacaCtagtcataaagggtgtgcgc	12	11	1	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:142840559C>T	ENST00000309575.3	+	2	2285	c.901C>T	c.(901-903)Cta>Tta	p.L301L		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	301					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						GTACCGCACACTAGTCATAAA	0.647																																						ENST00000309575.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(901-903)Cta>Tta		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							26	27	27					3																	142840559		2198	4298	6496	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.chr3:142840559C>T	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.901C>T	3.37:g.142840559C>T			Somatic					p.L301L	NM_004267.4	NP_004258.2	WXS	Illumina GAIIx	Phase_I	Q9Y4C5	CHST2_HUMAN			2	2285	+			301					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	ENST00000309575.3	37	c.901C>T	CCDS3129.1																																																																																				0.647	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		4	17	0	0	0	1	0	4	17					T	142840559	C	T	142840559	2	4	52	1	0	0	0	0	0	0	0	1	3406	564	20	3		3	CHST2	3	142840559	Silent	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	4898299	142840559	55181871	29	9388										
SLC10A6	345274	broad.mit.edu	37	chr4	87769940	87769941	+	Frame_Shift_Ins	INS	-	-	T													0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ggtgaaaatgttagagatggINStgccccccgggcagcagccc							TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:87769940_87769941insT	ENST00000273905.6	-	1	475_476	c.328_329insA	c.(328-330)accfs	p.T110fs	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	110					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GTTAGAGATGGTGCCCCCCGGG	0.515																																						ENST00000273905.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(328-330)catfs		solute carrier family 10 (sodium/bile acid cotransporter), member 6																																				SO:0001589	frameshift_variant	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87769940_87769941insT	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"Solute carriers"	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.329dupA	4.37:g.87769941_87769941dupT	ENSP00000273905:p.Thr110fs		Somatic				SLC10A6_ENST00000505535.1_5'UTR	p.H110fs	NM_197965.2	NP_932069.1	WXS	Illumina GAIIx	Phase_I	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	1	475_476	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	110					Q70EX7	Frame_Shift_Ins	INS	ENST00000273905.6	37	c.328_329insA	CCDS3614.1																																																																																				0.515	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		61	33						61	33	---	---	---	---	T	87769941	-	T	87769940	7	5	52	1	0	1	1	0	0	0	0	0	14393	1261	44	0	828	0	SLC10A6	4	87769940	Frame_Shift_Ins	INS	-	TCGA-NF-A4X2-01A-11D-A28R-08		87769940	103384336	30	9389										
NR3C2	4306	broad.mit.edu	37	chr4	149356602	149356602	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	cacaggtggtcctaaaattcCtgatagggaataatagtctt	9	7	1	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:149356602C>A	ENST00000358102.3	-	2	1773	c.1411G>T	c.(1411-1413)Gga>Tga	p.G471*	NR3C2_ENST00000511528.1_Nonsense_Mutation_p.G471*|NR3C2_ENST00000512865.1_Nonsense_Mutation_p.G471*|NR3C2_ENST00000355292.3_Nonsense_Mutation_p.G471*|NR3C2_ENST00000344721.4_Nonsense_Mutation_p.G471*	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	471	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CCTAAAATTCCTGATAGGGAA	0.433																																					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.(1411-1413)Gga>Tga		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						57	57	57					4																	149356602		2203	4300	6503	SO:0001587	stop_gained	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149356602C>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.1411G>T	4.37:g.149356602C>A	ENSP00000350815:p.Gly471*		Somatic				NR3C2_ENST00000511528.1_Nonsense_Mutation_p.G471*|NR3C2_ENST00000344721.4_Nonsense_Mutation_p.G471*|NR3C2_ENST00000342437.4_Nonsense_Mutation_p.G471*|NR3C2_ENST00000512865.1_Nonsense_Mutation_p.G471*|NR3C2_ENST00000358102.3_Nonsense_Mutation_p.G471*	p.G471*			WXS	Illumina GAIIx	Phase_I	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	2	1773	-	all_hematologic(180;0.151)		471			Modulating.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Nonsense_Mutation	SNP	ENST00000358102.3	37	c.1411G>T	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	C	39	7.605904	0.98387	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	.	.	.	5.4	4.56	0.56223	.	0.094155	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6309	0.68655	0.0:0.9291:0.0:0.0709	.	.	.	.	X	471	.	.	G	-	1	0	NR3C2	149576052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.407000	0.80029	1.403000	0.46800	0.655000	0.94253	GGA		0.433	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			23	48	1	0	3.62473e-10	1	4.05285e-10	23	48					A	149356602	C	A	149356602	4	1	52	1	0	0	0	0	0	1	0	0	10640	690	24	5	1575	5	NR3C2	4	149356602	Nonsense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	61586662	149356602	41797674	31	9390										
GLRA3	8001	broad.mit.edu	37	chr4	175649822	175649822	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gcggggatcattccatttctGacgaagaaagatattcactc	9	9	3	3			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:175649822G>C	ENST00000274093.3	-	4	797	c.295C>G	c.(295-297)Cag>Gag	p.Q99E	GLRA3_ENST00000436738.1_5'UTR|GLRA3_ENST00000340217.5_Missense_Mutation_p.Q99E	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	99					ion transmembrane transport (GO:0034220)|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)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TTCCATTTCTGACGAAGAAAG	0.378																																						ENST00000274093.3																			0				endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35						c.(295-297)Cag>Gag		glycine receptor, alpha 3	Glycine(DB00145)						65	74	71					4																	175649822		2203	4298	6501	SO:0001583	missense	8001				synaptic transmission	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.chr4:175649822G>C	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.295C>G	4.37:g.175649822G>C	ENSP00000274093:p.Gln99Glu		Somatic				GLRA3_ENST00000436738.1_5'UTR|GLRA3_ENST00000340217.5_Missense_Mutation_p.Q99E	p.Q99E	NM_006529.2	NP_006520.2	WXS	Illumina GAIIx	Phase_I	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	4	797	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	99					D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	c.295C>G	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369507	0.61624	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	T;T	0.78595	-1.19;-1.19	4.86	4.86	0.63082	Neurotransmitter-gated ion-channel ligand-binding (3);	0.058198	0.64402	D	0.000001	T	0.80984	0.4729	M	0.64260	1.97	0.58432	D	0.999999	P;P	0.48911	0.917;0.684	P;P	0.48952	0.596;0.491	T	0.80103	-0.1522	10	0.33141	T	0.24	.	18.3492	0.90331	0.0:0.0:1.0:0.0	.	99;99	O75311-2;O75311	.;GLRA3_HUMAN	E	99	ENSP00000274093:Q99E;ENSP00000345284:Q99E	ENSP00000274093:Q99E	Q	-	1	0	GLRA3	175886397	1.000000	0.71417	0.998000	0.56505	0.803000	0.45373	9.830000	0.99415	2.411000	0.81874	0.557000	0.71058	CAG		0.378	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			24	68	0	0	0	1	0	24	68					C	175649822	G	C	175649822	3	2	52	1	0	0	0	0	1	0	0	0	6464	1299	45	2	1127	2	GLRA3	4	175649822	Missense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	26293220	175649822	15504454	32	9391										
MAN2A1	4124	broad.mit.edu	37	chr5	109117242	109117242	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tgatcattactggagtggctAttttacatccagaccctttt	7	9	1	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr5:109117242A>G	ENST00000261483.4	+	9	2572	c.1520A>G	c.(1519-1521)tAt>tGt	p.Y507C		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	507					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)		TGGAGTGGCTATTTTACATCC	0.373																																						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.(1519-1521)tAt>tGt		mannosidase, alpha, class 2A, member 1							118	116	117					5																	109117242		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.chr5:109117242A>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.1520A>G	5.37:g.109117242A>G	ENSP00000261483:p.Tyr507Cys		Somatic					p.Y507C	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)	9	2572	+		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)	507					Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.1520A>G	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.660858	0.88154	.	.	ENSG00000112893	ENST00000261483	D	0.84442	-1.85	6.06	6.06	0.98353	Glycoside hydrolase, family 38, central domain (2);	0.000000	0.85682	D	0.000000	D	0.95743	0.8615	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97458	1.0032	10	0.87932	D	0	-14.5273	16.6245	0.84952	1.0:0.0:0.0:0.0	.	507	Q16706	MA2A1_HUMAN	C	507	ENSP00000261483:Y507C	ENSP00000261483:Y507C	Y	+	2	0	MAN2A1	109145141	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.932000	0.92897	2.323000	0.78572	0.528000	0.53228	TAT		0.373	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			14	25	0	0	0	1	0	14	25					G	109117242	A	G	109117242	3	3	52	1	0	0	0	0	1	0	0	0	9223	449	16	4	1554	4	MAN2A1	5	109117242	Missense_Mutation	SNP	A	TCGA-NF-A4X2-01A-11D-A28R-08		109117242	71798018	33	9392										
FCHSD1	89848	broad.mit.edu	37	chr5	141023864	141023864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gggaggggaagaccccaacaCggcccccaaattctcccctc	10	17	1	1	rs140791780	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr5:141023864C>T	ENST00000435817.2	-	17	1834	c.1784G>A	c.(1783-1785)cGt>cAt	p.R595H	FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.R521H|FCHSD1_ENST00000523856.1_5'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	595	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCCCAACACGGCCCCCAAA	0.632													C|||	43	0.00858626	0.0318	0.0014	5008	,	,		15518	0		0	False		,,,				2504	0					ENST00000435817.2																		FCHSD1/BRAF(2)	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1783-1785)cGt>cAt		FCH and double SH3 domains 1		C	HIS/ARG	99,3639		1,97,1771	33	39	37		1784	-0.2	0.9	5	dbSNP_134	37	0,8194		0,0,4097	yes	missense	FCHSD1	NM_033449.2	29	1,97,5868	TT,TC,CC		0.0,2.6485,0.8297	benign	595/691	141023864	99,11833	1869	4097	5966	SO:0001583	missense	89848							g.chr5:141023864C>T	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1784G>A	5.37:g.141023864C>T	ENSP00000399259:p.Arg595His		Somatic				FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.R521H|FCHSD1_ENST00000522126.1_3'UTR	p.R595H	NM_033449.2	NP_258260.1	WXS	Illumina GAIIx	Phase_I	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	1834	-			595			SH3 2.		Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	c.1784G>A	CCDS47295.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	1.301	-0.604956	0.03717	0.026485	0.0	ENSG00000197948	ENST00000435817;ENST00000522783	T;T	0.53423	0.62;0.62	5.44	-0.215	0.13157	Src homology-3 domain (3);Variant SH3 (1);	0.415939	0.24056	N	0.041941	T	0.10981	0.0268	L	0.28274	0.84	0.31086	N	0.71138	B;B	0.14805	0.011;0.006	B;B	0.13407	0.002;0.009	T	0.26052	-1.0114	10	0.09843	T	0.71	-6.1209	12.0244	0.53362	0.0:0.5784:0.0:0.4216	.	275;595	Q86WN1-2;Q86WN1	.;FCSD1_HUMAN	H	595;521	ENSP00000399259:R595H;ENSP00000428677:R521H	ENSP00000399259:R595H	R	-	2	0	FCHSD1	141004048	0.000000	0.05858	0.950000	0.38849	0.126000	0.20510	-0.094000	0.11094	-0.304000	0.08843	-1.851000	0.00568	CGT		0.632	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		3	14	0	0	0	1	0	3	14					T	141023864	C	T	141023864	3	4	52	1	0	0	0	0	1	0	0	0	5797	536	19	1	304	1	FCHSD1	5	141023864	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	31906622	141023864	39891396	34	9393										
SLC44A4	80736	broad.mit.edu	37	chr6	31833747	31833747	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ggcaaaggctccagcgaggaCgcattggcccagggccagta	15	12	0	0	rs149591801	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:31833747C>T	ENST00000229729.6	-	14	1410	c.1390G>A	c.(1390-1392)Gtc>Atc	p.V464I	SLC44A4_ENST00000375562.4_Missense_Mutation_p.V422I|SLC44A4_ENST00000544672.1_Missense_Mutation_p.V388I	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	464					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)		p.V464I(2)		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)	CCAGCGAGGACGCATTGGCCC	0.557													C|||	6	0.00119808	0	0	5008	,	,		19077	0		0	False		,,,				2504	0.0061					ENST00000544672.1																			2	Substitution - Missense(2)	p.V464I(2)	prostate(2)	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.(1162-1164)Gtc>Atc		solute carrier family 44, member 4	Choline(DB00122)	C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	69	67	68		1264,1162,1390	4.3	1	6	dbSNP_134	68	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	SLC44A4	NM_001178044.1,NM_001178045.1,NM_025257.2	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	422/669,388/635,464/711	31833747	2,13004	2203	4300	6503	SO:0001583	missense	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31833747C>T	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1390G>A	6.37:g.31833747C>T	ENSP00000229729:p.Val464Ile		Somatic				SLC44A4_ENST00000375562.4_Missense_Mutation_p.V422I|SLC44A4_ENST00000229729.6_Missense_Mutation_p.V464I	p.V388I	NM_001178045.1	NP_001171516.1	WXS	Illumina GAIIx	Phase_I	Q53GD3	CTL4_HUMAN			14	1458	-			464					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	ENST00000229729.6	37	c.1162G>A	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666032	0.47677	0.0	2.33E-4	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.24350	1.86;1.86;1.86	5.21	4.34	0.51931	.	0.136893	0.49916	D	0.000127	T	0.19127	0.0459	L	0.58583	1.82	0.33101	D	0.539257	P	0.48503	0.911	P	0.46940	0.532	T	0.03957	-1.0989	10	0.46703	T	0.11	-17.9757	12.7587	0.57350	0.0:0.9198:0.0:0.0802	.	464	Q53GD3	CTL4_HUMAN	I	464;422;388	ENSP00000229729:V464I;ENSP00000364712:V422I;ENSP00000444109:V388I	ENSP00000229729:V464I	V	-	1	0	SLC44A4	31941726	0.995000	0.38212	1.000000	0.80357	0.863000	0.49368	2.759000	0.47573	1.434000	0.47414	0.655000	0.94253	GTC		0.557	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			40	73	0	0	0	1	0	40	73					T	31833747	C	T	31833747	3	4	52	1	0	0	0	0	1	0	0	0	14653	536	19	1	774	1	SLC44A4	6	31833747	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08		31833747	139281320	35	9394										
TREML2	79865	broad.mit.edu	37	chr6	41165846	41165846	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gagccactgcagcctgctcaCctggagacacatccagctgg	11	15	1	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:41165846C>T	ENST00000483722.1	-	2	562		c.e2+1			NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2						T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCCTGCTCACCTGGAGACAC	0.572																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.e2+1		triggering receptor expressed on myeloid cells-like 2							33	33	33					6																	41165846		2203	4300	6503	SO:0001630	splice_region_variant	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41165846C>T	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"Immunoglobulin superfamily / V-set domain containing"	21092	protein-coding gene	gene with protein product	"TREM-like transcript 2"	609715	"chromosome 6 open reading frame 76"	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.376+1G>A	6.37:g.41165846C>T			Somatic						NM_024807.2	NP_079083.2	WXS	Illumina GAIIx	Phase_I	Q5T2D2	TRML2_HUMAN			2	562	-	Ovarian(28;0.0418)|Colorectal(47;0.196)							Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Splice_Site	SNP	ENST00000483722.1	37		CCDS4853.2	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347241	0.24426	.	.	ENSG00000112195	ENST00000483722	.	.	.	3.83	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9823	0.53127	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TREML2	41273824	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	3.388000	0.52509	2.074000	0.62210	0.563000	0.77884	.		0.572	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807	Intron	16	30	0	0	0	1	0	16	30					T	41165846	C	T	41165846	5	4	52	1	0	0	0	0	0	0	1	0	16488	521	18	3	604	3	TREML2	6	41165846	Splice_Site	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	9332099	41165846	129949221	36	9395										
EYS	346007	broad.mit.edu	37	chr6	66204707	66204707	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	aatggaggctggcaatggcaGctatatgtcttgctccaagc	12	9	1	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:66204707G>C	ENST00000370621.3	-	4	1123	c.597C>G	c.(595-597)agC>agG	p.S199R	EYS_ENST00000342421.5_Missense_Mutation_p.S199R|EYS_ENST00000503581.1_Missense_Mutation_p.S199R|EYS_ENST00000393380.2_Missense_Mutation_p.S199R|EYS_ENST00000370618.3_Missense_Mutation_p.S199R|EYS_ENST00000370616.2_Missense_Mutation_p.S199R			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	199	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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						GGCAATGGCAGCTATATGTCT	0.398																																						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.(595-597)agC>agG		eyes shut homolog (Drosophila)							48	46	47					6																	66204707		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204707G>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.597C>G	6.37:g.66204707G>C	ENSP00000359655:p.Ser199Arg		Somatic				EYS_ENST00000393380.2_Missense_Mutation_p.S199R|EYS_ENST00000370616.2_Missense_Mutation_p.S199R|EYS_ENST00000370618.3_Missense_Mutation_p.S199R|EYS_ENST00000370621.3_Missense_Mutation_p.S199R|EYS_ENST00000342421.5_Missense_Mutation_p.S199R	p.S199R	NM_001142800.1	NP_001136272.1	WXS	Illumina GAIIx	Phase_I	Q5T1H1	EYS_HUMAN			4	1134	-			199			EGF-like 1.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.597C>G		.	.	.	.	.	.	.	.	.	.	G	6.066	0.380501	0.11466	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	4.81	-0.304	0.12788	.	.	.	.	.	T	0.54334	0.1852	N	0.19112	0.55	0.09310	N	0.999999	B;B;B	0.22909	0.009;0.009;0.077	B;B;B	0.26094	0.01;0.016;0.066	T	0.46331	-0.9199	9	0.20519	T	0.43	.	3.8104	0.08795	0.4701:0.0:0.358:0.1719	.	199;199;199	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	R	199	ENSP00000424243:S199R;ENSP00000359655:S199R;ENSP00000359650:S199R;ENSP00000377042:S199R;ENSP00000341818:S199R;ENSP00000359652:S199R	ENSP00000341818:S199R	S	-	3	2	EYS	66261428	0.926000	0.31397	0.051000	0.19133	0.718000	0.41266	1.343000	0.33930	-0.074000	0.12820	-1.237000	0.01550	AGC		0.398	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		9	37	0	0	0	1	0	9	37					C	66204707	G	C	66204707	3	2	52	1	0	0	0	0	1	0	0	0	5334	962	34	5	8959	5	EYS	6	66204707	Missense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	25038861	66204707	104910360	37	9396										
MDN1	23195	broad.mit.edu	37	chr6	90432736	90432736	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	caaaaacacatgctgaccagGatcataacacccaggggact	8	12	1	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:90432736G>C	ENST00000369393.3	-	40	6020	c.5905C>G	c.(5905-5907)Cct>Gct	p.P1969A	MDN1_ENST00000428876.1_Missense_Mutation_p.P1969A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1969					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)		TGCTGACCAGGATCATAACAC	0.468																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(5905-5907)Cct>Gct		MDN1, midasin homolog (yeast)							157	171	166					6																	90432736		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90432736G>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.5905C>G	6.37:g.90432736G>C	ENSP00000358400:p.Pro1969Ala		Somatic				MDN1_ENST00000428876.1_Missense_Mutation_p.P1969A	p.P1969A			WXS	Illumina GAIIx	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	40	6020	-		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)	1969					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.5905C>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000521	0.74818	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03717	3.83;3.83	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.03520	0.0101	L	0.43923	1.385	0.80722	D	1	B	0.32939	0.391	B	0.38954	0.286	T	0.56282	-0.8005	10	0.28530	T	0.3	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1969	Q9NU22	MDN1_HUMAN	A	1969	ENSP00000358400:P1969A;ENSP00000413970:P1969A	ENSP00000358400:P1969A	P	-	1	0	MDN1	90489457	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	9.737000	0.98831	2.937000	0.99478	0.650000	0.86243	CCT		0.468	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			34	247	0	0	0	1	0	34	247					C	90432736	G	C	90432736	3	2	52	1	0	0	0	0	1	0	0	0	9424	1174	41	2	11137	2	MDN1	6	90432736	Missense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	24228029	90432736	80682331	38	9397										
AKAP12	9590	broad.mit.edu	37	chr6	151670243	151670244	+	Frame_Shift_Ins	INS	-	-	T													0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	aacaatctacagagaaacccINSgaagagaccctgaagcgtga					rs552053449		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:151670243_151670244insT	ENST00000253332.1	+	3	906_907	c.717_718insT	c.(718-720)gaafs	p.E240fs	AKAP12_ENST00000354675.6_Frame_Shift_Ins_p.E142fs|AKAP12_ENST00000359755.5_Frame_Shift_Ins_p.E135fs|snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000402676.2_Frame_Shift_Ins_p.E240fs			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	240			E -> K (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.E240K(2)		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)		CAGAGAAACCCGAAGAGACCCT	0.559																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			2	Substitution - Missense(2)	p.E240K(2)	large_intestine(2)	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.(715-720)ccaagafs		A kinase (PRKA) anchor protein 12																																				SO:0001589	frameshift_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151670243_151670244insT	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	Exception_encountered	6.37:g.151670243_151670244insT	ENSP00000253332:p.Glu240fs		Somatic				AKAP12_ENST00000253332.1_Frame_Shift_Ins_p.R240fs|AKAP12_ENST00000354675.6_Frame_Shift_Ins_p.R142fs|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000359755.5_Frame_Shift_Ins_p.R135fs	p.R240fs	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	957_958	+		Ovarian(120;0.125)	240		E -> K (in a colorectal cancer sample; somatic mutation).			O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Frame_Shift_Ins	INS	ENST00000253332.1	37	c.717_718insT	CCDS5229.1																																																																																				0.559	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			25	245						25	245	---	---	---	---	T	151670244	-	T	151670243	7	5	52	1	0	1	1	0	0	0	0	0	448	639	23	0	756	0	AKAP12	6	151670243	Frame_Shift_Ins	INS	-	TCGA-NF-A4X2-01A-11D-A28R-08	61237507	151670243	19444824	39	9398										
IGF2R	3482	broad.mit.edu	37	chr6	160468851	160468851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ataactccacctacaacttcCggtggtacaccagctatgcc	6	15	0	0	rs146539241		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:160468851C>T	ENST00000356956.1	+	17	2405	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	753					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTACAACTTCCGGTGGTACAC	0.547																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(2257-2259)Cgg>Tgg		insulin-like growth factor 2 receptor		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	107	97	100		2257	4.2	1	6	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGF2R	NM_000876.2	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	753/2492	160468851	2,13004	2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160468851C>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2257C>T	6.37:g.160468851C>T	ENSP00000349437:p.Arg753Trp		Somatic					p.R753W	NM_000876.2	NP_000867.2	WXS	Illumina GAIIx	Phase_I	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	17	2405	+		Breast(66;0.000777)|Ovarian(120;0.0305)	753					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.2257C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234134	0.79688	2.27E-4	1.16E-4	ENSG00000197081	ENST00000356956	T	0.02197	4.4	5.14	4.18	0.49190	Mannose-6-phosphate receptor, binding (1);	0.225102	0.42420	D	0.000716	T	0.08313	0.0207	M	0.84948	2.725	0.39940	D	0.974391	D	0.89917	1.0	D	0.77557	0.99	T	0.00380	-1.1776	10	0.87932	D	0	-11.437	12.4594	0.55723	0.2959:0.7041:0.0:0.0	.	753	P11717	MPRI_HUMAN	W	753	ENSP00000349437:R753W	ENSP00000349437:R753W	R	+	1	2	IGF2R	160388841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.976000	0.56867	2.407000	0.81776	0.561000	0.74099	CGG		0.547	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		49	109	0	0	0	1	0	49	109					T	160468851	C	T	160468851	3	4	52	1	0	0	0	0	1	0	0	0	7585	643	23	1	2323	1	IGF2R	6	160468851	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	8798608	160468851	10646216	40	9399										
MAP3K4	4216	broad.mit.edu	37	chr6	161507690	161507691	+	Frame_Shift_Ins	INS	-	-	T													0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	atgttctgaaatcaaaacagINStatgtcaaggtaagtacttc							TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:161507690_161507691insT	ENST00000392142.4	+	9	2695_2696	c.2547_2548insT	c.(2548-2550)tatfs	p.Y850fs	MAP3K4_ENST00000366920.2_Frame_Shift_Ins_p.Y850fs|MAP3K4_ENST00000348824.7_Frame_Shift_Ins_p.Y850fs|MAP3K4_ENST00000366919.2_Frame_Shift_Ins_p.Y850fs	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	850					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)		AATCAAAACAGTATGTCAAGGT	0.381																																						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.(2545-2550)caatgtfs		mitogen-activated protein kinase kinase kinase 4																																				SO:0001589	frameshift_variant	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.chr6:161507690_161507691insT	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.2548dupT	6.37:g.161507691_161507691dupT	ENSP00000375986:p.Tyr850fs		Somatic				MAP3K4_ENST00000366920.2_Frame_Shift_Ins_p.QC849fs|MAP3K4_ENST00000366919.2_Frame_Shift_Ins_p.QC849fs|MAP3K4_ENST00000348824.7_Frame_Shift_Ins_p.QC849fs	p.QC849fs	NM_005922.2	NP_005913.2	WXS	Illumina GAIIx	Phase_I	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	9	2695_2696	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	849					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Frame_Shift_Ins	INS	ENST00000392142.4	37	c.2547_2548insT	CCDS34565.1																																																																																				0.381	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			19	29						19	29	---	---	---	---	T	161507691	-	T	161507690	7	5	52	1	0	1	1	0	0	0	0	0	9261	1020	36	0	2581	0	MAP3K4	6	161507690	Frame_Shift_Ins	INS	-	TCGA-NF-A4X2-01A-11D-A28R-08	1038839	161507690	9607377	41	9400										
HNRNPA2B1	3181	broad.mit.edu	37	chr7	26235493	26235493	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gtcctcctccatacccattaTagccatccccaaatccacgt	3	18	0	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:26235493T>C	ENST00000354667.4	-	8	899	c.731A>G	c.(730-732)tAt>tGt	p.Y244C	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.Y232C	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	244	Gly-rich.				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 transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|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)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ATACCCATTATAGCCATCCCC	0.363			T	ETV1	prostate																																	ENST00000354667.4				Dom	yes		7	7p15	3181	T	heterogeneous nuclear ribonucleoprotein A2/B1			E	ETV1		prostate	HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(730-732)tAt>tGt		heterogeneous nuclear ribonucleoprotein A2/B1							114	98	104					7																	26235493		2203	4300	6503	SO:0001583	missense	3181				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding	g.chr7:26235493T>C	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"RNA binding motif (RRM) containing"	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.731A>G	7.37:g.26235493T>C	ENSP00000346694:p.Tyr244Cys		Somatic				HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.Y232C	p.Y244C	NM_031243.2	NP_112533.1	WXS	Illumina GAIIx	Phase_I	P22626	ROA2_HUMAN			8	899	-			244			Gly-rich.		A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	37	c.731A>G	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843796	0.51164	.	.	ENSG00000122566	ENST00000354667;ENST00000356674	D;D	0.86694	-2.16;-2.16	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000009	D	0.91181	0.7222	M	0.82517	2.595	0.36022	D	0.838797	D;D	0.61697	0.99;0.983	P;P	0.51415	0.476;0.669	D	0.93477	0.6824	10	0.39692	T	0.17	.	16.3839	0.83495	0.0:0.0:0.0:1.0	.	232;244	P22626-2;P22626	.;ROA2_HUMAN	C	244;232	ENSP00000346694:Y244C;ENSP00000349101:Y232C	ENSP00000346694:Y244C	Y	-	2	0	HNRNPA2B1	26202018	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.466000	0.53071	2.258000	0.74832	0.533000	0.62120	TAT		0.363	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		54	19	0	0	0	1	0	54	19					C	26235493	T	C	26235493	3	2	52	1	0	0	0	0	1	0	0	0	7268	1406	49	4	346	4	HNRNPA2B1	7	26235493	Missense_Mutation	SNP	T	TCGA-NF-A4X2-01A-11D-A28R-08		26235493	132903170	42	9401										
PKD1L1	168507	broad.mit.edu	37	chr7	47898380	47898380	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tggatatgagaccgatgagcTcaagcctcactcctttgtca	9	11	3	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:47898380T>G	ENST00000289672.2	-	27	4303	c.4253A>C	c.(4252-4254)gAg>gCg	p.E1418A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1418	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						ACCGATGAGCTCAAGCCTCAC	0.493																																						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.(4252-4254)gAg>gCg		polycystic kidney disease 1 like 1							123	119	121					7																	47898380		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47898380T>G	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4253A>C	7.37:g.47898380T>G	ENSP00000289672:p.Glu1418Ala		Somatic					p.E1418A	NM_138295.3	NP_612152.1	WXS	Illumina GAIIx	Phase_I	Q8TDX9	PK1L1_HUMAN			27	4303	-			1418			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.4253A>C	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.005195	0.35415	.	.	ENSG00000158683	ENST00000289672	T	0.21031	2.03	5.03	5.03	0.67393	Egg jelly receptor, REJ-like (1);	0.483189	0.20274	N	0.095609	T	0.19248	0.0462	L	0.46157	1.445	0.09310	N	1	B	0.17465	0.022	B	0.16289	0.015	T	0.10847	-1.0612	10	0.27785	T	0.31	-22.2872	11.3993	0.49860	0.0:0.0:0.0:1.0	.	1418	Q8TDX9	PK1L1_HUMAN	A	1418	ENSP00000289672:E1418A	ENSP00000289672:E1418A	E	-	2	0	PKD1L1	47864905	0.026000	0.19158	0.007000	0.13788	0.002000	0.02628	3.201000	0.51059	2.013000	0.59113	0.528000	0.53228	GAG		0.493	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		20	94	0	0	0	1	0	20	94					G	47898380	T	G	47898380	3	3	52	1	0	0	0	0	1	0	0	0	11973	1551	54	4	4420	4	PKD1L1	7	47898380	Missense_Mutation	SNP	T	TCGA-NF-A4X2-01A-11D-A28R-08	21662887	47898380	111240283	43	9402										
MUC17	140453	broad.mit.edu	37	chr7	100682628	100682628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tatacttgtcagcaccatgcCagtggccagttctgaggcta	10	11	2	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:100682628C>T	ENST00000306151.4	+	3	7995	c.7931C>T	c.(7930-7932)cCa>cTa	p.P2644L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2644	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)					AGCACCATGCCAGTGGCCAGT	0.463																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(7930-7932)cCa>cTa		mucin 17, cell surface associated							250	253	252					7																	100682628		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682628C>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.7931C>T	7.37:g.100682628C>T	ENSP00000302716:p.Pro2644Leu		Somatic					p.P2644L	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	7995	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2644			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.7931C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	7.364	0.625399	0.14257	.	.	ENSG00000169876	ENST00000306151	T	0.01918	4.56	0.37	0.37	0.16160	.	.	.	.	.	T	0.04137	0.0115	L	0.29908	0.895	0.09310	N	1	D	0.64830	0.994	P	0.62885	0.908	T	0.49661	-0.8916	9	0.23891	T	0.37	.	6.6184	0.22790	0.0:0.9998:0.0:2.0E-4	.	2644	Q685J3	MUC17_HUMAN	L	2644	ENSP00000302716:P2644L	ENSP00000302716:P2644L	P	+	2	0	MUC17	100469348	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.321000	0.19558	0.469000	0.27268	0.134000	0.15878	CCA		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		133	523	0	0	0	1	0	133	523					T	100682628	C	T	100682628	3	4	52	1	0	0	0	0	1	0	0	0	9983	594	21	3	7941	3	MUC17	7	100682628	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	52784248	100682628	58456035	44	9403										
NAPEPLD	222236	broad.mit.edu	37	chr7	102760563	102760563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tcatccatttccaccattacCgtggcatgtcccagccatgt	6	15	1	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:102760563C>T	ENST00000417955.1	-	3	556	c.402G>A	c.(400-402)acG>acA	p.T134T	NAPEPLD_ENST00000465647.1_Silent_p.T134T|NAPEPLD_ENST00000455523.2_Silent_p.T207T|NAPEPLD_ENST00000427257.1_Silent_p.T134T|NAPEPLD_ENST00000341533.4_Silent_p.T134T			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	134					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCACCATTACCGTGGCATGTC	0.478																																						ENST00000417955.1																			0				endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(400-402)acG>acA		N-acyl phosphatidylethanolamine phospholipase D							145	116	125					7																	102760563		2203	4300	6503	SO:0001819	synonymous_variant	222236				phospholipid catabolic process	membrane	metal ion binding	g.chr7:102760563C>T	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.402G>A	7.37:g.102760563C>T			Somatic				NAPEPLD_ENST00000455523.2_Silent_p.T207T|NAPEPLD_ENST00000465647.1_Silent_p.T134T|NAPEPLD_ENST00000341533.4_Silent_p.T134T|NAPEPLD_ENST00000427257.1_Silent_p.T134T	p.T134T			WXS	Illumina GAIIx	Phase_I	Q6IQ20	NAPEP_HUMAN			3	556	-			134					Q5CZ87|Q769K1	Silent	SNP	ENST00000417955.1	37	c.402G>A	CCDS5729.1																																																																																				0.478	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990		52	63	0	0	0	1	0	52	63					T	102760563	C	T	102760563	2	4	52	1	0	0	0	0	0	0	0	1	10172	639	23	1		1	NAPEPLD	7	102760563	Silent	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	2077935	102760563	56378100	45	9404										
C7orf49	78996	broad.mit.edu	37	chr7	134851483	134851483	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gaagggctgaggcctggagcCagtgcctgtttcccactgtc	14	12	0	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:134851483C>A	ENST00000393114.3	-	4	535	c.354G>T	c.(352-354)ctG>ctT	p.L118L	C7orf49_ENST00000483029.2_Silent_p.L63L|C7orf49_ENST00000424142.1_Silent_p.L63L|RP11-134L10.1_ENST00000608819.1_RNA|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000430372.1_Silent_p.L117L			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	118						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GGCCTGGAGCCAGTGCCTGTT	0.627																																						ENST00000424142.1																			0				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						c.(187-189)ctG>ctT		chromosome 7 open reading frame 49							65	75	71					7																	134851483		2203	4300	6503	SO:0001819	synonymous_variant	78996					cytoplasm		g.chr7:134851483C>A	BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"modulator of retrovirus infection"					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.354G>T	7.37:g.134851483C>A			Somatic				C7orf49_ENST00000483029.2_Silent_p.L63L|C7orf49_ENST00000393114.3_Silent_p.L118L|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000430372.1_Silent_p.L117L	p.L63L	NM_001243749.1|NM_001243753.1	NP_001230678.1|NP_001230682.1	WXS	Illumina GAIIx	Phase_I	Q9BWK5	MRI_HUMAN			4	791	-			118					Q6NWZ4|Q6ZNR5	Silent	SNP	ENST00000393114.3	37	c.189G>T	CCDS5838.2																																																																																				0.627	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340145.1	NM_024033		29	79	1	0	1.80694e-10	1	2.05269e-10	29	79					A	134851483	C	A	134851483	2	1	52	1	0	0	0	0	0	0	0	1	2400	581	21	5		5	C7orf49	7	134851483	Silent	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	32090920	134851483	24287180	46	9405										
TRYX3	136541	broad.mit.edu	37	chr7	141955417	141955417	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	atcaggactccagcgcagggCaagtagtcagatttcaaata	10	9	3	1	rs367758482		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:141955417C>A	ENST00000552471.1	-	2	436	c.117G>T	c.(115-117)ttG>ttT	p.L39F	PRSS58_ENST00000547058.2_Missense_Mutation_p.L39F			Q8IYP2	PRS58_HUMAN	protease, serine, 58	39	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						CAGCGCAGGGCAAGTAGTCAG	0.483																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(115-117)ttG>ttT		protease, serine, 58		C	PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	83	81	82		117	3.1	1	7		82	0,8600		0,0,4300	no	missense	PRSS58	NM_001001317.3	22	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	39/242	141955417	1,13005	2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141955417C>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.117G>T	7.37:g.141955417C>A	ENSP00000446916:p.Leu39Phe		Somatic				PRSS58_ENST00000547058.2_Missense_Mutation_p.L39F	p.L39F			WXS	Illumina GAIIx	Phase_I	Q8IYP2	PRS58_HUMAN			2	436	-			39			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.117G>T	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451648	0.63290	2.27E-4	0.0	ENSG00000258223	ENST00000547058;ENST00000552471	T;T	0.81247	-1.47;-1.47	5.0	3.11	0.35812	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.78660	0.4318	N	0.25060	0.705	0.29644	N	0.84449	D	0.71674	0.998	D	0.65874	0.939	T	0.70174	-0.4944	9	0.54805	T	0.06	.	5.3964	0.16271	0.3263:0.5779:0.0:0.0958	.	39	Q8IYP2	PRS58_HUMAN	F	39	ENSP00000447588:L39F;ENSP00000446916:L39F	ENSP00000307206:L39F	L	-	3	2	PRSS58	141601894	0.993000	0.37304	0.992000	0.48379	0.443000	0.32047	0.749000	0.26320	2.608000	0.88229	0.655000	0.94253	TTG		0.483	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		25	70	1	0	1.64293e-13	1	1.94414e-13	25	70					A	141955417	C	A	141955417	3	1	52	1	0	0	0	0	1	0	0	0	16619	709	25	5	624	5	TRYX3	7	141955417	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	7103934	141955417	17183246	47	9406										
LOXL2	4017	broad.mit.edu	37	chr8	23167294	23167294	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	agccggcggtagcccgtggtGgggtcggtctgcgcggctga	20	11	1	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:23167294G>A	ENST00000389131.3	-	10	2136	c.1767C>T	c.(1765-1767)ccC>ccT	p.P589P		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	589	Lysyl-oxidase like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGCCCGTGGTGGGGTCGGTCT	0.662																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1765-1767)ccC>ccT		lysyl oxidase-like 2							36	34	35					8																	23167294		2203	4300	6503	SO:0001819	synonymous_variant	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23167294G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1767C>T	8.37:g.23167294G>A			Somatic					p.P589P	NM_002318.2	NP_002309.1	WXS	Illumina GAIIx	Phase_I	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	10	2136	-		Prostate(55;0.0453)|Breast(100;0.143)	589			Lysyl-oxidase like.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	c.1767C>T	CCDS34864.1																																																																																				0.662	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			8	48	0	0	0	1	0	8	48					A	23167294	G	A	23167294	2	1	52	1	0	0	0	0	0	0	0	1	8909	1335	47	3		3	LOXL2	8	23167294	Silent	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08		23167294	123196728	48	9407										
KIAA0146	23514	broad.mit.edu	37	chr8	48614536	48614536	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	agatgaatgatcttggtaccCgttgcagtttctatgccacg	10	9	2	3			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:48614536C>G	ENST00000297423.4	+	14	2320	c.1936C>G	c.(1936-1938)Cgt>Ggt	p.R646G	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.R576G|SPIDR_ENST00000517693.1_Missense_Mutation_p.R121G|SPIDR_ENST00000518074.1_Missense_Mutation_p.R586G	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	646					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)											TCTTGGTACCCGTTGCAGTTT	0.423																																						ENST00000297423.4																			0											c.(1936-1938)Cgt>Ggt		scaffolding protein involved in DNA repair							114	108	110					8																	48614536		1902	4123	6025	SO:0001583	missense	23514							g.chr8:48614536C>G	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"KIAA0146"	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1936C>G	8.37:g.48614536C>G	ENSP00000297423:p.Arg646Gly		Somatic				SPIDR_ENST00000517693.1_Missense_Mutation_p.R121G|SPIDR_ENST00000518074.1_Missense_Mutation_p.R586G|SPIDR_ENST00000541342.1_Missense_Mutation_p.R576G|SPIDR_ENST00000521214.1_3'UTR	p.R646G	NM_001080394.2	NP_001073863.1	WXS	Illumina GAIIx	Phase_I					14	2320	+								B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.1936C>G	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088251	0.55968	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362;ENST00000522321;ENST00000518692;ENST00000521056	.	.	.	5.37	3.58	0.41010	.	0.166847	0.53938	D	0.000052	T	0.55545	0.1927	M	0.62723	1.935	0.09310	N	1	D;D;D;P;D;D;P	0.71674	0.998;0.998;0.998;0.932;0.996;0.998;0.932	P;D;D;P;P;P;P	0.66351	0.905;0.943;0.943;0.6;0.905;0.905;0.6	T	0.47724	-0.9095	9	0.87932	D	0	.	8.529	0.33321	0.0:0.7573:0.0:0.2427	.	136;151;586;576;646;121;646	B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B3KP42;Q14159	.;.;.;.;.;.;K0146_HUMAN	G	646;586;576;151;121;121;7;7;7	.	ENSP00000297423:R646G	R	+	1	0	KIAA0146	48777089	0.020000	0.18652	0.003000	0.11579	0.351000	0.29236	0.894000	0.28350	0.673000	0.31224	0.650000	0.86243	CGT		0.423	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		13	73	0	0	0	1	0	13	73					G	48614536	C	G	48614536	3	3	52	1	0	0	0	0	1	0	0	0	8166	652	23	5	1990	5	KIAA0146	8	48614536	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	25447242	48614536	97749486	49	9408										
GDF6	392255	broad.mit.edu	37	chr8	97172606	97172606	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	cccagcttctcagcgatggaGtaagtcctgtagattgacag	11	10	1	2	rs370658707		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:97172606G>C	ENST00000287020.5	-	1	414	c.315C>G	c.(313-315)taC>taG	p.Y105*		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	105					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CAGCGATGGAGTAAGTCCTGT	0.597																																						ENST00000287020.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(313-315)taC>taG		growth differentiation factor 6							106	113	111					8																	97172606		2203	4300	6503	SO:0001587	stop_gained	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.chr8:97172606G>C		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.315C>G	8.37:g.97172606G>C	ENSP00000287020:p.Tyr105*		Somatic					p.Y105*	NM_001001557.2	NP_001001557.1	WXS	Illumina GAIIx	Phase_I	Q6KF10	GDF6_HUMAN			1	414	-	Breast(36;2.67e-05)		105					Q6PI58	Nonsense_Mutation	SNP	ENST00000287020.5	37	c.315C>G	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	G	37	6.417053	0.97550	.	.	ENSG00000156466	ENST00000287020;ENST00000454970;ENST00000435084	.	.	.	4.3	2.04	0.26737	.	0.087044	0.48286	D	0.000193	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8495	0.41048	0.1933:0.0:0.8067:0.0	.	.	.	.	X	105	.	ENSP00000287020:Y105X	Y	-	3	2	GDF6	97241782	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.051000	0.49885	0.802000	0.34089	0.411000	0.27672	TAC		0.597	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		56	199	0	0	0	1	0	56	199					C	97172606	G	C	97172606	4	2	52	1	0	0	0	0	0	1	0	0	6325	1024	36	5	1060	5	GDF6	8	97172606	Nonsense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	48558070	97172606	49191416	50	9409										
VPS13B	157680	broad.mit.edu	37	chr8	100887728	100887728	+	Frame_Shift_Del	DEL	C	C	-													0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	aaagacatcttgtcacctggCccccagctgttcttccatgc							TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:100887728delC	ENST00000358544.2	+	62	12014	c.11903delC	c.(11902-11904)gccfs	p.A3968fs	VPS13B_ENST00000357162.2_Frame_Shift_Del_p.A3943fs|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3968					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)			TGTCACCTGGCCCCCAGCTGT	0.478																																					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.(11902-11904)gcfs		vacuolar protein sorting 13 homolog B (yeast)							156	138	144					8																	100887728		2203	4300	6503	SO:0001589	frameshift_variant	157680				protein transport			g.chr8:100887728delC	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.11903delC	8.37:g.100887728delC	ENSP00000351346:p.Ala3968fs		Somatic				VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.A3943fs	p.A3968fs	NM_017890.4	NP_060360.3	WXS	Illumina GAIIx	Phase_I	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		62	12014	+	Breast(36;3.73e-07)		3968					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Frame_Shift_Del	DEL	ENST00000358544.2	37	c.11903delC	CCDS6280.1																																																																																				0.478	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		29	123						29	123	---	---	---	---	-	100887728	C	-	100887728	7	5	52	1	0	1	0	1	0	0	0	0	17205	739	26	0	12339	0	VPS13B	8	100887728	Frame_Shift_Del	DEL	C	TCGA-NF-A4X2-01A-11D-A28R-08	3715122	100887728	45476294	51	9410										
CTHRC1	115908	broad.mit.edu	37	chr8	104388056	104388056	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ttccgggtacacctgggatcCcaggtcgggatggattcaaa	13	10	1	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:104388056C>G	ENST00000330295.5	+	2	383	c.241C>G	c.(241-243)Cca>Gca	p.P81A	CTHRC1_ENST00000520880.1_5'Flank|CTHRC1_ENST00000520337.1_Missense_Mutation_p.P67A|CTHRC1_ENST00000415886.2_Missense_Mutation_p.P81A	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	81	Collagen-like.				cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			ACCTGGGATCCCAGGTCGGGA	0.527																																						ENST00000330295.5																			0				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(241-243)Cca>Gca		collagen triple helix repeat containing 1							90	98	95					8																	104388056		2203	4300	6503	SO:0001583	missense	115908					collagen		g.chr8:104388056C>G	BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.241C>G	8.37:g.104388056C>G	ENSP00000330523:p.Pro81Ala		Somatic				CTHRC1_ENST00000415886.2_Missense_Mutation_p.P81A|CTHRC1_ENST00000520337.1_Missense_Mutation_p.P67A	p.P81A	NM_138455.3	NP_612464.1	WXS	Illumina GAIIx	Phase_I	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		2	383	+			81			Collagen-like.		G3V141|Q6UW91|Q8IX63	Missense_Mutation	SNP	ENST00000330295.5	37	c.241C>G	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943420	0.92593	.	.	ENSG00000164932	ENST00000330295;ENST00000415886;ENST00000520337;ENST00000297577	D;D;D	0.96745	-1.99;-1.99;-4.11	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.97823	0.9285	M	0.66560	2.04	0.80722	D	1	D;D	0.89917	1.0;0.986	D;P	0.87578	0.998;0.894	D	0.97832	1.0263	10	0.49607	T	0.09	-14.293	19.4886	0.95040	0.0:1.0:0.0:0.0	.	81;81	E7EVQ5;Q96CG8	.;CTHR1_HUMAN	A	81;81;67;67	ENSP00000330523:P81A;ENSP00000416045:P81A;ENSP00000430550:P67A	ENSP00000297577:P67A	P	+	1	0	CTHRC1	104457232	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.487000	0.81328	2.612000	0.88384	0.585000	0.79938	CCA		0.527	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455		18	123	0	0	0	1	0	18	123					G	104388056	C	G	104388056	3	3	52	1	0	0	0	0	1	0	0	0	4012	623	22	5	247	5	CTHRC1	8	104388056	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	3500328	104388056	41975966	52	9411										
SYBU	55638	broad.mit.edu	37	chr8	110588205	110588205	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	aatccagtcctctcgcatgcGggccagctgggacttaagct	11	13	1	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:110588205G>T	ENST00000422135.1	-	8	1437	c.922C>A	c.(922-924)Cgc>Agc	p.R308S	SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000528331.1_Missense_Mutation_p.R189S|SYBU_ENST00000528647.1_Missense_Mutation_p.R307S|SYBU_ENST00000446070.2_Missense_Mutation_p.R307S|SYBU_ENST00000408889.3_Missense_Mutation_p.R189S|SYBU_ENST00000276646.9_Missense_Mutation_p.R308S|SYBU_ENST00000408908.2_Missense_Mutation_p.R308S|SYBU_ENST00000529175.1_Missense_Mutation_p.R102S|SYBU_ENST00000399066.3_Missense_Mutation_p.R305S|SYBU_ENST00000433638.1_Missense_Mutation_p.R308S|SYBU_ENST00000533171.1_Missense_Mutation_p.R308S|SYBU_ENST00000529690.1_Missense_Mutation_p.R178S|SYBU_ENST00000533895.1_Missense_Mutation_p.R307S|SYBU_ENST00000424158.2_Missense_Mutation_p.R313S|SYBU_ENST00000440310.1_Missense_Mutation_p.R308S|SYBU_ENST00000419099.1_Missense_Mutation_p.R307S|SYBU_ENST00000533065.1_Missense_Mutation_p.R189S|SYBU_ENST00000532779.1_Missense_Mutation_p.R240S	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	308	Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCTCGCATGCGGGCCAGCTGG	0.433																																						ENST00000399066.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.(913-915)Cgc>Agc		syntabulin (syntaxin-interacting)							49	50	50					8																	110588205		1978	4206	6184	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110588205G>T	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.922C>A	8.37:g.110588205G>T	ENSP00000407118:p.Arg308Ser		Somatic				SYBU_ENST00000528647.1_Missense_Mutation_p.R307S|SYBU_ENST00000533065.1_Missense_Mutation_p.R189S|SYBU_ENST00000529690.1_Missense_Mutation_p.R178S|SYBU_ENST00000533895.1_Missense_Mutation_p.R307S|SYBU_ENST00000422135.1_Missense_Mutation_p.R308S|SYBU_ENST00000529175.1_Missense_Mutation_p.R102S|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000446070.2_Missense_Mutation_p.R307S|SYBU_ENST00000408908.2_Missense_Mutation_p.R308S|SYBU_ENST00000424158.2_Missense_Mutation_p.R313S|SYBU_ENST00000440310.1_Missense_Mutation_p.R308S|SYBU_ENST00000433638.1_Missense_Mutation_p.R308S|SYBU_ENST00000276646.9_Missense_Mutation_p.R308S|SYBU_ENST00000419099.1_Missense_Mutation_p.R307S|SYBU_ENST00000528331.1_Missense_Mutation_p.R189S|SYBU_ENST00000408889.3_Missense_Mutation_p.R189S|SYBU_ENST00000533171.1_Missense_Mutation_p.R308S|SYBU_ENST00000532779.1_Missense_Mutation_p.R240S	p.R305S	NM_001099756.1	NP_001093226.1	WXS	Illumina GAIIx	Phase_I	Q9NX95	SYBU_HUMAN			6	1640	-			308			Sufficient for interaction with KIF5B.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.913C>A	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694974	0.68386	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.8	3.92	0.45320	.	0.047372	0.85682	D	0.000000	T	0.79257	0.4415	M	0.80982	2.52	0.58432	D	0.999994	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.998;1.0;0.998;0.998	T	0.81510	-0.0900	9	0.87932	D	0	-14.6001	13.9687	0.64225	0.0:0.0:0.7233:0.2767	.	178;240;307;308;305	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	S	307;313;240;305;307;189;102;308;307;308;307;308;308;308;189;189;178;308	.	ENSP00000276646:R308S	R	-	1	0	SYBU	110657381	1.000000	0.71417	0.981000	0.43875	0.988000	0.76386	4.383000	0.59600	0.711000	0.32018	0.591000	0.81541	CGC		0.433	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		24	66	1	0	2.21704e-12	1	2.58048e-12	24	66					T	110588205	G	T	110588205	3	4	52	1	0	0	0	0	1	0	0	0	15442	1116	39	5	1073	5	SYBU	8	110588205	Missense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	6200149	110588205	35775817	53	9412										
COL22A1	169044	broad.mit.edu	37	chr8	139824130	139824130	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gaggccgctggggtgggggtGgaggtggaggctctgtcacc	22	8	2	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:139824130G>T	ENST00000303045.6	-	9	1807	c.1361C>A	c.(1360-1362)cCa>cAa	p.P454Q	COL22A1_ENST00000435777.1_Missense_Mutation_p.P454Q	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	454	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)			GGGTGGGGGTGGAGGTGGAGG	0.597										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(1360-1362)cCa>cAa		collagen, type XXII, alpha 1							17	17	17					8																	139824130		2198	4276	6474	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139824130G>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.1361C>A	8.37:g.139824130G>T	ENSP00000303153:p.Pro454Gln	HNSCC(7;0.00092)	Somatic				COL22A1_ENST00000435777.1_Missense_Mutation_p.P454Q	p.P454Q	NM_152888.1	NP_690848.1	WXS	Illumina GAIIx	Phase_I	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		9	1807	-	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)		454			Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1361C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	3.187	-0.166657	0.06461	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	D;D	0.88741	-2.42;-2.33	4.78	-5.11	0.02901	.	0.954592	0.08584	N	0.924142	T	0.75635	0.3876	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.59053	-0.7526	9	.	.	.	.	2.0594	0.03588	0.4981:0.1129:0.1601:0.2288	.	454	Q8NFW1	COMA1_HUMAN	Q	454	ENSP00000303153:P454Q;ENSP00000387655:P454Q	.	P	-	2	0	COL22A1	139893312	0.000000	0.05858	0.000000	0.03702	0.972000	0.66771	-1.392000	0.02523	-0.641000	0.05487	0.549000	0.68633	CCA		0.597	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		11	9	1	0	3.86212e-05	1	4.1547e-05	11	9					T	139824130	G	T	139824130	3	4	52	1	0	0	0	0	1	0	0	0	3683	1348	47	5	3747	5	COL22A1	8	139824130	Missense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	29235925	139824130	6539892	54	9413										
LINGO2	158038	broad.mit.edu	37	chr9	27949585	27949585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gctgcaagatccagagaaggCggcagtcacaggccagaggg	16	10	1	3			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:27949585C>T	ENST00000379992.2	-	6	1534	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	LINGO2_ENST00000308675.3_Missense_Mutation_p.R362H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	362	LRRCT.					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)		CCAGAGAAGGCGGCAGTCACA	0.547																																						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.(1084-1086)cGc>cAc		leucine rich repeat and Ig domain containing 2							39	38	38					9																	27949585		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949585C>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.1085G>A	9.37:g.27949585C>T	ENSP00000369328:p.Arg362His		Somatic				LINGO2_ENST00000308675.3_Missense_Mutation_p.R362H	p.R362H	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	1534	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	362			LRRCT.		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1085G>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052619	0.75960	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.80033	-1.33;-1.33	6.16	6.16	0.99307	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87589	0.6215	L	0.46614	1.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84553	0.0645	9	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	362	Q7L985	LIGO2_HUMAN	H	362	ENSP00000369328:R362H;ENSP00000310126:R362H	.	R	-	2	0	LINGO2	27939585	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGC		0.547	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		33	6	0	0	0	1	0	33	6					T	27949585	C	T	27949585	3	4	52	1	0	0	0	0	1	0	0	0	8824	768	27	1	739	1	LINGO2	9	27949585	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08		27949585	113263846	55	9414										
RG9MTD3	158234	broad.mit.edu	37	chr9	37776300	37776300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	aggtgacatttcaaaaggccCgggaatactctgtcaagacc	10	10	3	2	rs531666438		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:37776300C>T	ENST00000297994.3	+	8	807	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TRMT10B_ENST00000377754.2_Missense_Mutation_p.R153W|RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000537911.1_Missense_Mutation_p.R197W|TRMT10B_ENST00000377753.2_Missense_Mutation_p.R170W	NM_144964.2	NP_659401.2	Q6PF06	TM10B_HUMAN	tRNA methyltransferase 10 homolog B (S. cerevisiae)	248	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.						methyltransferase activity (GO:0008168)										TCAAAAGGCCCGGGAATACTC	0.338													C|||	1	0.000199681	0	0	5008	,	,		16497	0		0	False		,,,				2504	0.001					ENST00000297994.3																			0											c.(742-744)Cgg>Tgg		tRNA methyltransferase 10 homolog B (S. cerevisiae)							33	28	29					9																	37776300		1808	4071	5879	SO:0001583	missense	158234							g.chr9:37776300C>T	BC057774	CCDS43804.1, CCDS69598.1, CCDS69600.1, CCDS69601.1	9p13.1	2012-06-28	2012-06-28	2012-06-28	ENSG00000165275	ENSG00000165275			26454	protein-coding gene	gene with protein product			"RNA (guanine-9-) methyltransferase domain containing 3"	RG9MTD3		14702039	Standard	XM_005251373		Approved	FLJ31455, bA3J10.9	uc004aai.3	Q6PF06	OTTHUMG00000019933	ENST00000297994.3:c.742C>T	9.37:g.37776300C>T	ENSP00000297994:p.Arg248Trp		Somatic				TRMT10B_ENST00000537911.1_Missense_Mutation_p.R197W|TRMT10B_ENST00000377754.2_Missense_Mutation_p.R153W|RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000377753.2_Missense_Mutation_p.R170W	p.R248W	NM_144964.2	NP_659401.2	WXS	Illumina GAIIx	Phase_I					8	807	+								B7Z216|B7Z3D3|Q05DJ4|Q5QP83|Q8NAG2|Q96N36	Missense_Mutation	SNP	ENST00000297994.3	37	c.742C>T	CCDS43804.1	.	.	.	.	.	.	.	.	.	.	C	9.220	1.033224	0.19590	.	.	ENSG00000165275	ENST00000377753;ENST00000537911;ENST00000377754;ENST00000297994	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.28	2.45	0.29901	.	1.273050	0.05177	N	0.500575	T	0.26991	0.0661	L	0.52905	1.665	0.28113	N	0.930911	B;B;B;B;B	0.24576	0.052;0.106;0.027;0.008;0.025	B;B;B;B;B	0.19391	0.016;0.025;0.012;0.001;0.022	T	0.29119	-1.0022	10	0.62326	D	0.03	1.4721	6.7314	0.23385	0.1283:0.6571:0.0:0.2146	.	137;170;197;153;248	B7Z9F7;B7Z216;B7Z3D3;Q6PF06-2;Q6PF06	.;.;.;.;RG9D3_HUMAN	W	170;197;153;248	ENSP00000366982:R170W;ENSP00000444997:R197W;ENSP00000366983:R153W;ENSP00000297994:R248W	ENSP00000297994:R248W	R	+	1	2	RG9MTD3	37766300	0.000000	0.05858	0.509000	0.27700	0.630000	0.37929	0.696000	0.25541	0.012000	0.14892	-1.731000	0.00696	CGG		0.338	TRMT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052482.1	NM_144964		11	4	0	0	0	1	0	11	4					T	37776300	C	T	37776300	3	4	52	1	0	0	0	0	1	0	0	0	13288	643	23	1	768	1	RG9MTD3	9	37776300	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	9826715	37776300	103437131	56	9415										
TRPM3	80036	broad.mit.edu	37	chr9	73736211	73736211	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tccaaattccaccaggaaaaCaagaaactgaaaacctgagc	6	11	0	3			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:73736211C>A	ENST00000377111.2	-	1	303	c.60G>T	c.(58-60)ttG>ttT	p.L20F	TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000377110.3_Missense_Mutation_p.L20F	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	20					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						ACCAGGAAAACAAGAAACTGA	0.512																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(58-60)ttG>ttT		transient receptor potential cation channel, subfamily M, member 3							83	84	84					9																	73736211		1921	4121	6042	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73736211C>A	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.60G>T	9.37:g.73736211C>A	ENSP00000366315:p.Leu20Phe		Somatic				TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000377111.2_Missense_Mutation_p.L20F|TRPM3_ENST00000423814.3_Intron	p.L20F	NM_001007471.2	NP_001007472.2	WXS	Illumina GAIIx	Phase_I	Q9HCF6	TRPM3_HUMAN			1	303	-			20					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.60G>T		.	.	.	.	.	.	.	.	.	.	C	10.80	1.452940	0.26161	.	.	ENSG00000083067	ENST00000377111;ENST00000377110	T;T	0.60040	0.22;0.4	4.29	2.39	0.29439	.	.	.	.	.	T	0.32526	0.0832	N	0.08118	0	0.80722	D	1	B;B;B	0.14805	0.002;0.011;0.011	B;B;B	0.16289	0.001;0.015;0.015	T	0.08764	-1.0706	9	0.46703	T	0.11	.	5.6267	0.17487	0.1922:0.7064:0.0:0.1014	.	20;20;20	Q9HCF6;Q9HCF6-2;Q9HCF6-10	TRPM3_HUMAN;.;.	F	20	ENSP00000366315:L20F;ENSP00000366314:L20F	ENSP00000366314:L20F	L	-	3	2	TRPM3	72926031	0.560000	0.26570	0.828000	0.32881	0.818000	0.46254	0.344000	0.19962	0.714000	0.32081	0.557000	0.71058	TTG		0.512	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		82	6	1	0	1.26005e-42	1	1.59757e-42	82	6					A	73736211	C	A	73736211	3	1	52	1	0	0	0	0	1	0	0	0	16602	477	17	5	5286	5	TRPM3	9	73736211	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	35959911	73736211	67477220	57	9416										
WNK2	65268	broad.mit.edu	37	chr9	96021235	96021245	+	Frame_Shift_Del	DEL	CCCCCATCACG	CCCCCATCACG	-													0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gcccccgattcctgttgtgcCccccatcacgcccctggcgg					rs149576658		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:96021235_96021245delCCCCCATCACG	ENST00000297954.4	+	11	2405_2415	c.2405_2415delCCCCCATCACG	c.(2404-2415)ccccccatcacgfs	p.PPIT802fs	WNK2_ENST00000427277.2_Frame_Shift_Del_p.PPIT414fs|WNK2_ENST00000349097.3_Frame_Shift_Del_p.PPIT414fs|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Frame_Shift_Del_p.PPIT736fs|WNK2_ENST00000395477.2_Frame_Shift_Del_p.PPIT802fs	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	802					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCTGTTGTGCCCCCCATCACGCCCCTGGCGG	0.649																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(2404-2415)cfs		WNK lysine deficient protein kinase 2																																				SO:0001589	frameshift_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96021235_96021245delCCCCCATCACG	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.2405_2415delCCCCCATCACG	9.37:g.96021235_96021245delCCCCCATCACG	ENSP00000297954:p.Pro802fs		Somatic				WNK2_ENST00000349097.3_Frame_Shift_Del_p.PPIT414fs|WNK2_ENST00000427277.2_Frame_Shift_Del_p.PPIT414fs|WNK2_ENST00000395475.2_Frame_Shift_Del_p.PPIT736fs|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Frame_Shift_Del_p.PPIT802fs	p.PPIT802fs			WXS	Illumina GAIIx	Phase_I	Q9Y3S1	WNK2_HUMAN			11	2405_2415	+			802					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Frame_Shift_Del	DEL	ENST00000297954.4	37	c.2405_2415delCCCCCATCACG																																																																																					0.649	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		13	33						13	33	---	---	---	---	-	96021245	CCCCCATCACG	-	96021235	7	5	52	1	0	1	0	1	0	0	0	0	17393	623	22	0	2447	0	WNK2	9	96021235	Frame_Shift_Del	DEL	CCCCCATCACG	TCGA-NF-A4X2-01A-11D-A28R-08	22285024	96021235	45192196	58	9417										
SVEP1	79987	broad.mit.edu	37	chr9	113312294	113312294	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tgaatctcgcagtgacgctgCaattggtctagggtctcccc	11	12	3	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:113312294C>A	ENST00000401783.2	-	2	958	c.622G>T	c.(622-624)Gca>Tca	p.A208S	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.A185S|SVEP1_ENST00000374461.1_Missense_Mutation_p.A185S|SVEP1_ENST00000302728.8_Missense_Mutation_p.A208S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	208	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						AGTGACGCTGCAATTGGTCTA	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.(622-624)Gca>Tca		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							156	152	154					9																	113312294		1937	4151	6088	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113312294C>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.622G>T	9.37:g.113312294C>A	ENSP00000384917:p.Ala208Ser		Somatic				SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.A185S|SVEP1_ENST00000302728.8_Missense_Mutation_p.A208S|SVEP1_ENST00000374469.1_Missense_Mutation_p.A185S	p.A208S	NM_153366.3	NP_699197.3	WXS	Illumina GAIIx	Phase_I	Q4LDE5	SVEP1_HUMAN			2	958	-			208			VWFA.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.622G>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518313	0.64634	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.5	5.5	0.81552	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.87196	0.6117	L	0.45228	1.405	0.49299	D	0.999774	B;B;D	0.89917	0.234;0.284;1.0	B;B;D	0.83275	0.074;0.119;0.996	D	0.87789	0.2617	10	0.87932	D	0	.	19.7555	0.96287	0.0:1.0:0.0:0.0	.	208;208;208	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	S	208;185;208;185	ENSP00000384917:A208S;ENSP00000363593:A185S;ENSP00000304118:A208S;ENSP00000363585:A185S	ENSP00000304118:A208S	A	-	1	0	SVEP1	112352115	1.000000	0.71417	0.622000	0.29159	0.582000	0.36321	7.384000	0.79751	2.737000	0.93849	0.563000	0.77884	GCA		0.443	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				23	85	1	0	6.44725e-10	1	7.15242e-10	23	85					A	113312294	C	A	113312294	3	1	52	1	0	0	0	0	1	0	0	0	15435	710	25	5	10281	5	SVEP1	9	113312294	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	17291059	113312294	27901137	59	9418										
COL27A1	85301	broad.mit.edu	37	chr9	117068960	117068960	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	catggactgtgagcagaagaTggtggatggtgagaaggctt	17	4	0	4			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:117068960T>G	ENST00000356083.3	+	58	5490	c.5099T>G	c.(5098-5100)aTg>aGg	p.M1700R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1700	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						GAGCAGAAGATGGTGGATGGT	0.607											OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(5098-5100)aTg>aGg		collagen, type XXVII, alpha 1							38	41	40					9																	117068960		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117068960T>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.5099T>G	9.37:g.117068960T>G	ENSP00000348385:p.Met1700Arg		Somatic	OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1478		p.M1700R	NM_032888.2	NP_116277.2	WXS	Illumina GAIIx	Phase_I	Q8IZC6	CORA1_HUMAN			58	5490	+			1700			Fibrillar collagen NC1.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.5099T>G	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.469232	0.63625	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	T	0.73047	-0.71	5.33	5.33	0.75918	Fibrillar collagen, C-terminal (3);	.	.	.	.	T	0.68320	0.2988	N	0.25890	0.77	0.53005	D	0.999961	P	0.49253	0.921	P	0.52159	0.691	T	0.71869	-0.4462	9	0.59425	D	0.04	.	13.2359	0.59969	0.0:0.0:0.0:1.0	.	1700	Q8IZC6	CORA1_HUMAN	R	1700;1707	ENSP00000348385:M1700R	ENSP00000348385:M1700R	M	+	2	0	COL27A1	116108781	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	7.662000	0.83803	1.994000	0.58287	0.533000	0.62120	ATG		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		8	39	0	0	0	1	0	8	39					G	117068960	T	G	117068960	3	3	52	1	0	0	0	0	1	0	0	0	3687	1464	51	4	5329	4	COL27A1	9	117068960	Missense_Mutation	SNP	T	TCGA-NF-A4X2-01A-11D-A28R-08	3756666	117068960	24144471	60	9419										
ASTN2	23245	broad.mit.edu	37	chr9	119582946	119582946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gcatcgtagggcaggggcagCgtctgctgcaggcacagctg	17	11	1	0	rs369400081		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:119582946C>T	ENST00000313400.4	-	12	2257	c.2157G>A	c.(2155-2157)acG>acA	p.T719T	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.T715T|ASTN2_ENST00000361209.2_Silent_p.T668T			O75129	ASTN2_HUMAN	astrotactin 2	719	EGF-like 3.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.T668T(1)		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						GCAGGGGCAGCGTCTGCTGCA	0.577																																						ENST00000313400.4																			1	Substitution - coding silent(1)	p.T668T(1)	large_intestine(1)	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.(2155-2157)acG>acA		astrotactin 2		C		0,4406		0,0,2203	102	93	96		2004	-10.7	0.3	9		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ASTN2	NM_014010.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		668/1289	119582946	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119582946C>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.2157G>A	9.37:g.119582946C>T			Somatic				ASTN2_ENST00000361209.2_Silent_p.T668T|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.T715T	p.T719T			WXS	Illumina GAIIx	Phase_I	O75129	ASTN2_HUMAN			12	2257	-			719			EGF-like 3.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.2157G>A																																																																																					0.577	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		115	11	0	0	0	1	0	115	11					T	119582946	C	T	119582946	2	4	52	1	0	0	0	0	0	0	0	1	1065	755	27	1		1	ASTN2	9	119582946	Silent	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	2513986	119582946	21630485	61	9420										
C9orf9	11092	broad.mit.edu	37	chr9	135762851	135762851	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tcagagctgaataagctctgCcagcactttgaggccgtgca	11	11	2	3			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:135762851C>T	ENST00000372136.3	+	3	687	c.240C>T	c.(238-240)tgC>tgT	p.C80C	C9orf9_ENST00000356311.5_Silent_p.C80C|C9orf9_ENST00000350499.6_Silent_p.C80C			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	80						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)		ATAAGCTCTGCCAGCACTTTG	0.537																																						ENST00000372136.3																			1	Unknown(1)	p.?(1)	bone(1)	cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(238-240)tgC>tgT		chromosome 9 open reading frame 9							133	135	135					9																	135762851		2203	4300	6503	SO:0001819	synonymous_variant	11092							g.chr9:135762851C>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.240C>T	9.37:g.135762851C>T			Somatic				C9orf9_ENST00000356311.5_Silent_p.C80C|C9orf9_ENST00000350499.6_Silent_p.C80C	p.C80C			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)	3	687	+			80					Q9UGQ0	Silent	SNP	ENST00000372136.3	37	c.240C>T																																																																																					0.537	C9orf9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000054806.1	NM_018956		31	225	0	0	0	1	0	31	225					T	135762851	C	T	135762851	2	4	52	1	0	0	0	0	0	0	0	1	2506	747	26	3		3	C9orf9	9	135762851	Silent	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	16179905	135762851	5450580	62	9421										
PIP4K2A	5305	broad.mit.edu	37	chr10	23003128	23003128	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ttaccgagtggtttacccccCacatgaggacgctgagcagc	11	13	0	2	rs184663145		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:23003128C>A	ENST00000376573.4	-	1	356	c.128G>T	c.(127-129)tGg>tTg	p.W43L	PIP4K2A_ENST00000545335.1_5'Flank	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	43	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						GTTTACCCCCCACATGAGGAC	0.627																																						ENST00000376573.4																			0				endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						c.(127-129)tGg>tTg		phosphatidylinositol-5-phosphate 4-kinase, type II, alpha							64	58	60					10																	23003128		2203	4300	6503	SO:0001583	missense	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:23003128C>A	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.128G>T	10.37:g.23003128C>A	ENSP00000365757:p.Trp43Leu		Somatic					p.W43L	NM_005028.4	NP_005019.2	WXS	Illumina GAIIx	Phase_I	P48426	PI42A_HUMAN			1	356	-			43			PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	c.128G>T	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	c	18.06	3.540055	0.65085	.	.	ENSG00000150867	ENST00000376573;ENST00000376565	T	0.24350	1.86	3.86	3.86	0.44501	Phosphatidylinositol-4-phosphate 5-kinase, core (1);	0.289166	0.29822	U	0.011102	T	0.18676	0.0448	L	0.33093	0.98	0.80722	D	1	B	0.33807	0.426	B	0.36567	0.228	T	0.02184	-1.1199	10	0.02654	T	1	.	14.8636	0.70399	0.0:1.0:0.0:0.0	.	43	P48426	PI42A_HUMAN	L	43;2	ENSP00000365757:W43L	ENSP00000365749:W2L	W	-	2	0	PIP4K2A	23043134	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	6.579000	0.74036	2.030000	0.59900	0.274000	0.19336	TGG		0.627	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		19	31	1	0	1.96292e-10	1	2.21218e-10	19	31					A	23003128	C	A	23003128	3	1	52	1	0	0	0	0	1	0	0	0	11945	595	21	5	1132	5	PIP4K2A	10	23003128	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08		23003128	112531619	63	9422										
YME1L1	10730	broad.mit.edu	37	chr10	27437875	27437875	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gctcaggaactacatctcgaTgctggttttgagaaactgac	10	9	2	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:27437875T>C	ENST00000326799.3	-	2	276	c.128A>G	c.(127-129)cAt>cGt	p.H43R	YME1L1_ENST00000376016.3_Missense_Mutation_p.H43R|YME1L1_ENST00000375972.3_Missense_Mutation_p.H43R|YME1L1_ENST00000477432.1_Missense_Mutation_p.H43R	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	43					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TACATCTCGATGCTGGTTTTG	0.428																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(127-129)cAt>cGt		YME1-like 1 ATPase							207	205	205					10																	27437875		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27437875T>C	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.128A>G	10.37:g.27437875T>C	ENSP00000318480:p.His43Arg		Somatic				YME1L1_ENST00000477432.1_Missense_Mutation_p.H43R|YME1L1_ENST00000375972.3_Missense_Mutation_p.H43R|YME1L1_ENST00000376016.3_Missense_Mutation_p.H43R	p.H43R	NM_139312.2	NP_647473.1	WXS	Illumina GAIIx	Phase_I	Q96TA2	YMEL1_HUMAN			2	276	-			43					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.128A>G	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.343470	0.61073	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000427324;ENST00000396296	D;D;D	0.92858	-3.02;-3.12;-3.03	5.49	5.49	0.81192	Peptidase M41, FtsH (1);	0.335977	0.38111	N	0.001806	D	0.90916	0.7145	N	0.24115	0.695	0.36279	D	0.855652	B;D;B;B	0.56035	0.006;0.974;0.01;0.259	B;P;B;B	0.59171	0.01;0.853;0.014;0.05	D	0.90135	0.4209	10	0.15499	T	0.54	-14.8124	15.603	0.76639	0.0:0.0:0.0:1.0	.	43;43;43;43	B4DNM1;Q6PJ89;Q96TA2-2;Q96TA2	.;.;.;YMEL1_HUMAN	R	43;43;43;43;43;35	ENSP00000365184:H43R;ENSP00000318480:H43R;ENSP00000365139:H43R	ENSP00000318480:H43R	H	-	2	0	YME1L1	27477881	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.133000	0.64764	2.086000	0.62901	0.533000	0.62120	CAT		0.428	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		127	69	0	0	0	1	0	127	69					C	27437875	T	C	27437875	3	2	52	1	0	0	0	0	1	0	0	0	17502	1464	51	4	2269	4	YME1L1	10	27437875	Missense_Mutation	SNP	T	TCGA-NF-A4X2-01A-11D-A28R-08	4434747	27437875	108096872	64	9423										
SVIL	6840	broad.mit.edu	37	chr10	29843734	29843734	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	atgtgggggctggcagggtcGctggctctcatgtatcgagg	18	8	1	0	rs371700516		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:29843734G>A	ENST00000355867.4	-	5	890	c.138C>T	c.(136-138)agC>agT	p.S46S	SVIL_ENST00000375398.2_Silent_p.S46S|SVIL_ENST00000375400.3_Silent_p.S46S	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	46	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGGCAGGGTCGCTGGCTCTCA	0.592																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(136-138)agC>agT		supervillin		G	,	0,4406		0,0,2203	32	32	32		138,138	-7.1	0.7	10		32	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SVIL	NM_003174.3,NM_021738.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	46/1789,46/2215	29843734	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29843734G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.138C>T	10.37:g.29843734G>A			Somatic				SVIL_ENST00000355867.4_Silent_p.S46S|SVIL_ENST00000375400.3_Silent_p.S46S	p.S46S			WXS	Illumina GAIIx	Phase_I	O95425	SVIL_HUMAN			7	587	-		Breast(68;0.103)	46			Interaction with MYLK (By similarity).		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.138C>T	CCDS7164.1																																																																																				0.592	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			20	19	0	0	0	1	0	20	19					A	29843734	G	A	29843734	2	1	52	1	0	0	0	0	0	0	0	1	15436	1078	38	1		1	SVIL	10	29843734	Silent	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	2405859	29843734	105691013	65	9424										
PARD3	56288	broad.mit.edu	37	chr10	34400456	34400456	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gtagttctgctcccaagagtCctgggagaccgagctggcat	13	11	1	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:34400456C>G	ENST00000374789.3	-	25	4037	c.3712G>C	c.(3712-3714)Gac>Cac	p.D1238H	PARD3_ENST00000545693.1_Missense_Mutation_p.D1222H|PARD3_ENST00000374790.3_Missense_Mutation_p.D1178H|PARD3_ENST00000374794.3_Missense_Mutation_p.D1126H|PARD3_ENST00000545260.1_Missense_Mutation_p.D1148H|PARD3_ENST00000346874.4_Missense_Mutation_p.D1201H|PARD3_ENST00000350537.4_Missense_Mutation_p.D1192H|PARD3_ENST00000374788.3_Missense_Mutation_p.D1235H	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1238					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCCCAAGAGTCCTGGGAGACC	0.567																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(3712-3714)Gac>Cac		par-3 family cell polarity regulator							56	58	57					10																	34400456		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34400456C>G	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3712G>C	10.37:g.34400456C>G	ENSP00000363921:p.Asp1238His		Somatic				PARD3_ENST00000374790.3_Missense_Mutation_p.D1178H|PARD3_ENST00000350537.4_Missense_Mutation_p.D1192H|PARD3_ENST00000545260.1_Missense_Mutation_p.D1148H|PARD3_ENST00000545693.1_Missense_Mutation_p.D1222H|PARD3_ENST00000346874.4_Missense_Mutation_p.D1201H|PARD3_ENST00000374794.3_Missense_Mutation_p.D1126H|PARD3_ENST00000374788.3_Missense_Mutation_p.D1235H	p.D1238H	NM_019619.3	NP_062565.2	WXS	Illumina GAIIx	Phase_I	Q8TEW0	PARD3_HUMAN			25	4037	-		Breast(68;0.0707)	1238					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.3712G>C	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720341	0.89205	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.20332	2.25;2.17;2.33;2.32;2.13;2.08;2.17;2.27	5.87	5.87	0.94306	.	0.200055	0.53938	D	0.000058	T	0.44074	0.1276	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D;D	0.91635	0.983;0.873;0.999;0.999;0.999;0.983;0.999;0.999	T	0.11641	-1.0579	10	0.72032	D	0.01	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1126;1148;1155;1192;1222;1201;1235;1238	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	H	1222;1148;1238;1235;1201;1126;1192;1178	ENSP00000443147:D1222H;ENSP00000440857:D1148H;ENSP00000363921:D1238H;ENSP00000363920:D1235H;ENSP00000340591:D1201H;ENSP00000363926:D1126H;ENSP00000311986:D1192H;ENSP00000363922:D1178H	ENSP00000340591:D1201H	D	-	1	0	PARD3	34440462	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GAC		0.567	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		32	51	0	0	0	1	0	32	51					G	34400456	C	G	34400456	3	3	52	1	0	0	0	0	1	0	0	0	11452	855	30	2	362	2	PARD3	10	34400456	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	4556722	34400456	101134291	66	9425										
AIFM2	84883	broad.mit.edu	37	chr10	71874719	71874719	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	cgctgcttcacagagttgacGatgttggccacggcgatgtt	13	10	1	2	rs201852745		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:71874719G>A	ENST00000307864.1	-	8	1140	c.927C>T	c.(925-927)atC>atT	p.I309I	AIFM2_ENST00000373248.1_Silent_p.I309I|AIFM2_ENST00000482166.1_5'UTR	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	309					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CAGAGTTGACGATGTTGGCCA	0.577																																						ENST00000307864.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						c.(925-927)atC>atT		apoptosis-inducing factor, mitochondrion-associated, 2							59	49	52					10																	71874719		2203	4300	6503	SO:0001819	synonymous_variant	84883				apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	g.chr10:71874719G>A	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.927C>T	10.37:g.71874719G>A			Somatic				AIFM2_ENST00000482166.1_5'UTR|AIFM2_ENST00000373248.1_Silent_p.I309I	p.I309I	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	WXS	Illumina GAIIx	Phase_I	Q9BRQ8	AIFM2_HUMAN			8	1140	-			309					B3KXI0|Q63Z39	Silent	SNP	ENST00000307864.1	37	c.927C>T	CCDS7297.1																																																																																				0.577	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		10	37	0	0	0	1	0	10	37					A	71874719	G	A	71874719	2	1	52	1	0	0	0	0	0	0	0	1	427	1048	37	1		1	AIFM2	10	71874719	Silent	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	37474263	71874719	63660028	67	9426										
PTEN	5728	broad.mit.edu	37	chr10	89692893	89692893	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tgcagcaattcactgtaaagCtggaaagggacgaactggtg	13	7	1	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:89692893C>A	ENST00000371953.3	+	5	1734	c.377C>A	c.(376-378)gCt>gAt	p.A126D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	126	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A126D(3)|p.A126V(2)|p.Y27fs*1(2)|p.A121_F145del(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)		CACTGTAAAGCTGGAAAGGGA	0.408		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(8)|Substitution - Missense(5)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A126D(3)|p.A126V(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|endometrium(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.(376-378)gCt>gAt		phosphatase and tensin homolog							141	130	133					10																	89692893		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.chr10:89692893C>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.377C>A	10.37:g.89692893C>A	ENSP00000361021:p.Ala126Asp	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic					p.A126D	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	1734	+		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)	126			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.377C>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114147	0.94339	.	.	ENSG00000171862	ENST00000371953	D	0.99150	-5.49	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99369	0.9778	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99063	1.0831	9	.	.	.	-8.4283	18.7776	0.91918	0.0:1.0:0.0:0.0	.	126	P60484	PTEN_HUMAN	D	126	ENSP00000361021:A126D	.	A	+	2	0	PTEN	89682873	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.452000	0.80683	2.411000	0.81874	0.655000	0.94253	GCT		0.408	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		81	51	1	0	3.31034e-53	1	4.23485e-53	81	51					A	89692893	C	A	89692893	3	1	52	1	0	0	0	0	1	0	0	0	12750	797	28	5	395	5	PTEN	10	89692893	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	17818174	89692893	45841854	68	9427										
EXOC6	54536	broad.mit.edu	37	chr10	94688101	94688101	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ctgattttattttagggtgaCgaggaaacatttgaaaacta	9	4	0	3	rs75784691	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:94688101C>G	ENST00000260762.6	+	9	908	c.894C>G	c.(892-894)gaC>gaG	p.D298E	EXOC6_ENST00000443748.2_Missense_Mutation_p.D275E|EXOC6_ENST00000371552.4_Missense_Mutation_p.D293E|EXOC6_ENST00000371547.4_Missense_Mutation_p.D314E	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	298					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TTTAGGGTGACGAGGAAACAT	0.333																																						ENST00000371552.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(877-879)gaC>gaG		exocyst complex component 6							88	91	90					10																	94688101		2203	4299	6502	SO:0001583	missense	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94688101C>G	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"SEC15-like 1 (S. cerevisiae)"	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.894C>G	10.37:g.94688101C>G	ENSP00000260762:p.Asp298Glu		Somatic				EXOC6_ENST00000443748.2_Missense_Mutation_p.D275E|EXOC6_ENST00000371547.4_Missense_Mutation_p.D314E|EXOC6_ENST00000260762.6_Missense_Mutation_p.D298E	p.D293E	NM_001013848.2	NP_001013870.1	WXS	Illumina GAIIx	Phase_I	Q8TAG9	EXOC6_HUMAN			9	908	+		Colorectal(252;0.123)	298					E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	c.879C>G	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	c	2.099	-0.406446	0.04832	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.30714	1.61;1.61;1.52;1.61	5.42	3.08	0.35506	.	0.139303	0.64402	D	0.000006	T	0.17280	0.0415	L	0.28694	0.88	0.19945	N	0.999943	B;B;B;B;B	0.33940	0.065;0.433;0.006;0.006;0.006	B;B;B;B;B	0.32090	0.069;0.14;0.006;0.006;0.006	T	0.29761	-1.0001	10	0.02654	T	1	-7.8934	10.5907	0.45308	0.0:0.1513:0.0:0.8487	.	314;275;290;298;293	F2Z2Q3;E7EW84;B4DEZ1;Q8TAG9;E9PHI3	.;.;.;EXOC6_HUMAN;.	E	314;293;275;298	ENSP00000360602:D314E;ENSP00000360607:D293E;ENSP00000396206:D275E;ENSP00000260762:D298E	ENSP00000260762:D298E	D	+	3	2	EXOC6	94678081	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	1.911000	0.39937	0.059000	0.16252	-1.048000	0.02349	GAC		0.333	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053		17	43	0	0	0	1	0	17	43					G	94688101	C	G	94688101	3	3	52	1	0	0	0	0	1	0	0	0	5310	535	19	5	1018	5	EXOC6	10	94688101	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	4995208	94688101	40846646	69	9428										
MYOF	26509	broad.mit.edu	37	chr10	95162632	95162632	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	cttaccaggttcatcataaaCaaatccaacatcaatctggg	5	11	4	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:95162632C>A	ENST00000359263.4	-	10	858	c.859G>T	c.(859-861)Gtt>Ttt	p.V287F	MYOF_ENST00000371501.4_Missense_Mutation_p.V287F|MYOF_ENST00000358334.5_Missense_Mutation_p.V287F|MYOF_ENST00000371502.4_Missense_Mutation_p.V287F|MYOF_ENST00000371489.1_Missense_Mutation_p.V287F	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	287					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						TCATCATAAACAAATCCAACA	0.299																																						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.(859-861)Gtt>Ttt		myoferlin							104	90	94					10																	95162632		1825	4086	5911	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.chr10:95162632C>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.859G>T	10.37:g.95162632C>A	ENSP00000352208:p.Val287Phe		Somatic				MYOF_ENST00000359263.4_Missense_Mutation_p.V287F|MYOF_ENST00000358334.5_Missense_Mutation_p.V287F|MYOF_ENST00000371502.4_Missense_Mutation_p.V287F|MYOF_ENST00000371489.1_Missense_Mutation_p.V287F	p.V287F			WXS	Illumina GAIIx	Phase_I	Q9NZM1	MYOF_HUMAN			10	981	-			287					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.859G>T	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142470	0.57044	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489	D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85	5.73	-0.123	0.13527	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);FerIin domain (1);	0.430216	0.26711	N	0.022881	D	0.87418	0.6172	M	0.75777	2.31	0.28667	N	0.905843	B;B;B	0.32338	0.365;0.232;0.266	B;P;B	0.46452	0.394;0.517;0.401	D	0.83852	0.0263	10	0.87932	D	0	-4.5768	10.3166	0.43740	0.0:0.5037:0.0:0.4963	.	269;287;287	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	F	287	ENSP00000351094:V287F;ENSP00000352208:V287F;ENSP00000360556:V287F;ENSP00000360557:V287F;ENSP00000360544:V287F	ENSP00000351094:V287F	V	-	1	0	MYOF	95152622	0.001000	0.12720	0.667000	0.29798	0.991000	0.79684	-0.073000	0.11468	0.064000	0.16427	0.561000	0.74099	GTT		0.299	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		6	22	1	0	0.00198382	1	0.00208668	6	22					A	95162632	C	A	95162632	3	1	52	1	0	0	0	0	1	0	0	0	10098	478	17	5	5506	5	MYOF	10	95162632	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	474531	95162632	40372115	70	9429										
PPRC1	23082	broad.mit.edu	37	chr10	103901271	103901271	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	actgttcccccacctcctttGcctccagcctccattgggag	7	18	0	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:103901271G>A	ENST00000278070.2	+	5	3045	c.3006G>A	c.(3004-3006)ttG>ttA	p.L1002L	PPRC1_ENST00000413464.2_Silent_p.L1002L|PPRC1_ENST00000370012.1_5'UTR	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1002	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CACCTCCTTTGCCTCCAGCCT	0.562																																						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.(3004-3006)ttG>ttA		peroxisome proliferator-activated receptor gamma, coactivator-related 1							49	50	50					10																	103901271		2203	4300	6503	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103901271G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3006G>A	10.37:g.103901271G>A			Somatic				PPRC1_ENST00000370012.1_5'UTR|PPRC1_ENST00000413464.2_Silent_p.L1002L	p.L1002L	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)	5	3045	+		Colorectal(252;0.122)	1002			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.3006G>A	CCDS7529.1																																																																																				0.562	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		7	73	0	0	0	1	0	7	73					A	103901271	G	A	103901271	2	1	52	1	0	0	0	0	0	0	0	1	12422	1310	46	3		3	PPRC1	10	103901271	Silent	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	8738639	103901271	31633476	71	9430										
SLC18A2	6571	broad.mit.edu	37	chr10	119003729	119003729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tgtcccagtgaagacaaagaCctcctgaatgaaaacgtgca	9	10	0	5			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:119003729C>T	ENST00000298472.5	+	3	512	c.369C>T	c.(367-369)gaC>gaT	p.D123D	SLC18A2_ENST00000497497.1_3'UTR|RP11-501J20.5_ENST00000425264.1_RNA	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	123					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)	AAGACAAAGACCTCCTGAATG	0.527																																						ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(367-369)gaC>gaT		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						94	82	86					10																	119003729		2203	4300	6503	SO:0001819	synonymous_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119003729C>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.369C>T	10.37:g.119003729C>T			Somatic				SLC18A2_ENST00000497497.1_3'UTR	p.D123D	NM_003054.4	NP_003045.2	WXS	Illumina GAIIx	Phase_I	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	3	512	+		Colorectal(252;0.19)	123					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	c.369C>T	CCDS7599.1																																																																																				0.527	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		21	85	0	0	0	1	0	21	85					T	119003729	C	T	119003729	2	4	52	1	0	0	0	0	0	0	0	1	14441	506	18	3		3	SLC18A2	10	119003729	Silent	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	15102458	119003729	16531018	72	9431										
PDZD8	118987	broad.mit.edu	37	chr10	119043162	119043162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ctggatcctttcctctgtagGcaagcccctgtacagatcac	8	14	2	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:119043162G>A	ENST00000334464.5	-	5	3321	c.3082C>T	c.(3082-3084)Cct>Tct	p.P1028S	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1028					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)		TCCTCTGTAGGCAAGCCCCTG	0.403																																						ENST00000334464.5																			0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(3082-3084)Cct>Tct		PDZ domain containing 8							127	130	129					10																	119043162		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119043162G>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.3082C>T	10.37:g.119043162G>A	ENSP00000334642:p.Pro1028Ser		Somatic					p.P1028S	NM_173791.3	NP_776152.1	WXS	Illumina GAIIx	Phase_I	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	3321	-		Colorectal(252;0.19)	1028					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.3082C>T	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003864	0.74932	.	.	ENSG00000165650	ENST00000334464	D	0.87809	-2.3	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90817	0.7116	L	0.32530	0.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.91551	0.5257	10	0.87932	D	0	-11.3498	19.8633	0.96793	0.0:0.0:1.0:0.0	.	1028	Q8NEN9	PDZD8_HUMAN	S	1028	ENSP00000334642:P1028S	ENSP00000334642:P1028S	P	-	1	0	PDZD8	119033152	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.628000	0.83189	2.697000	0.92050	0.591000	0.81541	CCT		0.403	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		6	125	0	0	0	1	0	6	125					A	119043162	G	A	119043162	3	1	52	1	0	0	0	0	1	0	0	0	11714	1203	42	3	386	3	PDZD8	10	119043162	Missense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	39433	119043162	16491585	73	9432										
SCUBE2	57758	broad.mit.edu	37	chr11	9074741	9074741	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	acacacggggtgacacacttGtgggcaggagccccttcact	12	13	1	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:9074741G>T	ENST00000309263.3	-	12	1424	c.1352C>A	c.(1351-1353)aCa>aAa	p.T451K	SCUBE2_ENST00000450649.2_Intron|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000457346.2_Missense_Mutation_p.T451K|SCUBE2_ENST00000520467.1_Missense_Mutation_p.T451K			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	451						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)		TGACACACTTGTGGGCAGGAG	0.532																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1351-1353)aCa>aAa		signal peptide, CUB domain, EGF-like 2							79	66	70					11																	9074741		2201	4296	6497	SO:0001583	missense	57758					extracellular region	calcium ion binding	g.chr11:9074741G>T	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1352C>A	11.37:g.9074741G>T	ENSP00000310658:p.Thr451Lys		Somatic				SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000520467.1_Missense_Mutation_p.T451K|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Missense_Mutation_p.T451K	p.T451K			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)	12	1426	-			451					Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37	c.1352C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.804|7.804	0.714178|0.714178	0.15306|0.15306	.|.	.|.	ENSG00000175356|ENSG00000175356	ENST00000519788|ENST00000457346;ENST00000309263;ENST00000520467	.|T;T;T	.|0.80123	.|-1.18;-1.27;-1.34	5.82|5.82	2.34|2.34	0.29019|0.29019	.|.	.|0.506253	.|0.23483	.|N	.|0.047697	T|T	0.61375|0.61375	0.2342|0.2342	N|N	0.19112|0.19112	0.55|0.55	0.25715|0.25715	N|N	0.98543|0.98543	.|B;B	.|0.22909	.|0.077;0.0	.|B;B	.|0.25614	.|0.062;0.002	T|T	0.44726|0.44726	-0.9309|-0.9309	5|10	.|0.06365	.|T	.|0.9	.|.	8.5661|8.5661	0.33540|0.33540	0.0:0.1917:0.4158:0.3924|0.0:0.1917:0.4158:0.3924	.|.	.|451;451	.|Q9NQ36-2;Q9NQ36	.|.;SCUB2_HUMAN	K|K	174|451	.|ENSP00000390481:T451K;ENSP00000310658:T451K;ENSP00000429969:T451K	.|ENSP00000310658:T451K	Q|T	-|-	1|2	0|0	SCUBE2|SCUBE2	9031317|9031317	0.597000|0.597000	0.26874|0.26874	0.975000|0.975000	0.42487|0.42487	0.957000|0.957000	0.61999|0.61999	1.025000|1.025000	0.30090|0.30090	0.740000|0.740000	0.32651|0.32651	0.561000|0.561000	0.74099|0.74099	CAA|ACA		0.532	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		34	5	1	0	2.48696e-23	1	3.09779e-23	34	5					T	9074741	G	T	9074741	3	4	52	1	0	0	0	0	1	0	0	0	13960	1377	48	5	1782	5	SCUBE2	11	9074741	Missense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08		9074741	125931775	74	9433										
MRGPRX3	117195	broad.mit.edu	37	chr11	18158857	18158857	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ttcacggggctgacgtgcatCgtttcccttgtcgcgctgac	12	13	1	2	rs201385722		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:18158857C>T	ENST00000396275.2	+	3	469	c.108C>T	c.(106-108)atC>atT	p.I36I		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGACGTGCATCGTTTCCCTTG	0.582																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(106-108)atC>atT		MAS-related GPR, member X3		C		0,4400		0,0,2200	154	149	151		108	1.5	0	11		151	2,8584	2.2+/-6.3	0,2,4291	no	coding-synonymous	MRGPRX3	NM_054031.3		0,2,6491	TT,TC,CC		0.0233,0.0,0.0154		36/323	18158857	2,12984	2200	4293	6493	SO:0001819	synonymous_variant	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18158857C>T		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.108C>T	11.37:g.18158857C>T			Somatic					p.I36I	NM_054031.3	NP_473372.3	WXS	Illumina GAIIx	Phase_I	Q96LB0	MRGX3_HUMAN			3	469	+			36					B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	ENST00000396275.2	37	c.108C>T	CCDS7830.1																																																																																				0.582	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		5	259	0	0	0	1	0	5	259					T	18158857	C	T	18158857	2	4	52	1	0	0	0	0	0	0	0	1	9777	874	31	1		1	MRGPRX3	11	18158857	Silent	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	9084116	18158857	116847659	75	9434										
ARRB1	408	broad.mit.edu	37	chr11	74985231	74985231	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	agtgtgtagaccttgcagaaCgtcgagctgggtgccacagt	14	9	0	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:74985231C>A	ENST00000420843.2	-	11	898	c.801G>T	c.(799-801)acG>acT	p.T267T	ARRB1_ENST00000393505.4_Silent_p.T267T|ARRB1_ENST00000360025.3_Silent_p.T267T	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	267					activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CCTTGCAGAACGTCGAGCTGG	0.597																																						ENST00000420843.2																			0				breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						c.(799-801)acG>acT		arrestin, beta 1							201	179	186					11																	74985231		2200	4293	6493	SO:0001819	synonymous_variant	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74985231C>A	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"arrestin 2"	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.801G>T	11.37:g.74985231C>A			Somatic				ARRB1_ENST00000393505.4_Silent_p.T267T|ARRB1_ENST00000360025.3_Silent_p.T267T	p.T267T	NM_004041.4	NP_004032.2	WXS	Illumina GAIIx	Phase_I	P49407	ARRB1_HUMAN			11	898	-			267					B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Silent	SNP	ENST00000420843.2	37	c.801G>T	CCDS44684.1	.	.	.	.	.	.	.	.	.	.	C	9.084	0.999929	0.19121	.	.	ENSG00000137486	ENST00000532447	.	.	.	4.8	-8.91	0.00778	.	.	.	.	.	T	0.42200	0.1192	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46331	-0.9199	4	.	.	.	-5.9548	4.4084	0.11420	0.0968:0.2329:0.0969:0.5734	.	.	.	.	F	92	.	.	V	-	1	0	ARRB1	74662879	0.000000	0.05858	0.106000	0.21319	0.960000	0.62799	-8.192000	0.00023	-1.821000	0.01213	0.456000	0.33151	GTT		0.597	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3	NM_004041		33	239	1	0	2.47316e-13	1	2.90238e-13	33	239					A	74985231	C	A	74985231	2	1	52	1	0	0	0	0	0	0	0	1	980	523	19	5		5	ARRB1	11	74985231	Silent	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	56826374	74985231	60021285	76	9435										
EXPH5	23086	broad.mit.edu	37	chr11	108385313	108385313	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ttcttttgcacataatcttcTttaaagactctgggctccct	5	11	4	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:108385313T>C	ENST00000265843.4	-	6	1031	c.921A>G	c.(919-921)aaA>aaG	p.K307K	EXPH5_ENST00000443411.1_Silent_p.K119K|EXPH5_ENST00000428840.1_Silent_p.K231K|EXPH5_ENST00000525344.1_Silent_p.K300K|EXPH5_ENST00000524840.1_5'UTR	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	307					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATAATCTTCTTTAAAGACTC	0.438																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(919-921)aaA>aaG		exophilin 5							58	57	57					11																	108385313		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108385313T>C		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.921A>G	11.37:g.108385313T>C			Somatic				EXPH5_ENST00000525344.1_Silent_p.K300K|EXPH5_ENST00000443411.1_Silent_p.K119K|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Silent_p.K231K	p.K307K	NM_015065.2	NP_055880.2	WXS	Illumina GAIIx	Phase_I	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	1031	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	307					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.921A>G	CCDS8341.1																																																																																				0.438	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		12	23	0	0	0	1	0	12	23					C	108385313	T	C	108385313	2	2	52	1	0	0	0	0	0	0	0	1	5324	1606	56	4		4	EXPH5	11	108385313	Silent	SNP	T	TCGA-NF-A4X2-01A-11D-A28R-08	33400082	108385313	26621203	77	9436										
GIT2	9815	broad.mit.edu	37	chr12	110397663	110397663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	agcagttaccttttgaacccGagagagaactgccctgctgt	10	11	0	3			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr12:110397663G>A	ENST00000355312.3	-	12	1087	c.1088C>T	c.(1087-1089)tCg>tTg	p.S363L	TCHP_ENST00000550780.1_Intron|GIT2_ENST00000356259.4_Missense_Mutation_p.S363L|GIT2_ENST00000354574.4_Missense_Mutation_p.S365L|GIT2_ENST00000320063.9_Missense_Mutation_p.S363L|GIT2_ENST00000360185.4_Missense_Mutation_p.S363L|GIT2_ENST00000361006.5_Missense_Mutation_p.S363L|GIT2_ENST00000338373.5_Missense_Mutation_p.S363L|GIT2_ENST00000551209.1_Missense_Mutation_p.S362L|GIT2_ENST00000547815.1_Missense_Mutation_p.S363L|GIT2_ENST00000553118.1_Missense_Mutation_p.S363L|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000457474.2_Missense_Mutation_p.S365L	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	363					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						TTTTGAACCCGAGAGAGAACT	0.453																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(1087-1089)tCg>tTg		G protein-coupled receptor kinase interacting ArfGAP 2							78	72	74					12																	110397663		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.chr12:110397663G>A	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.1088C>T	12.37:g.110397663G>A	ENSP00000347464:p.Ser363Leu		Somatic				GIT2_ENST00000547815.1_Missense_Mutation_p.S363L|GIT2_ENST00000553118.1_Missense_Mutation_p.S363L|GIT2_ENST00000355312.3_Missense_Mutation_p.S363L|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S362L|GIT2_ENST00000356259.4_Missense_Mutation_p.S363L|GIT2_ENST00000354574.4_Missense_Mutation_p.S365L|GIT2_ENST00000338373.5_Missense_Mutation_p.S363L|GIT2_ENST00000320063.9_Missense_Mutation_p.S363L|GIT2_ENST00000457474.2_Missense_Mutation_p.S365L|GIT2_ENST00000361006.5_Missense_Mutation_p.S363L|GIT2_ENST00000343646.5_Intron	p.S363L			WXS	Illumina GAIIx	Phase_I	Q14161	GIT2_HUMAN			12	1252	-			363					Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	c.1088C>T	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132924	0.37630	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000542273;ENST00000547815;ENST00000320063	T;T;T;T;T;T;T;T;T;T;T	0.72942	-0.7;-0.64;-0.6;-0.6;-0.6;-0.58;-0.69;-0.68;-0.68;-0.62;-0.63	5.4	3.51	0.40186	.	0.401414	0.30890	N	0.008662	T	0.50292	0.1607	N	0.14661	0.345	0.29947	N	0.820545	B;B;B;B;B;B;B	0.10296	0.0;0.0;0.003;0.003;0.001;0.0;0.0	B;B;B;B;B;B;B	0.08055	0.0;0.0;0.001;0.001;0.003;0.001;0.001	T	0.46665	-0.9175	10	0.30854	T	0.27	.	9.9854	0.41839	0.0758:0.1404:0.7837:0.0	.	363;363;365;365;363;363;363	B4E2E7;Q6FI58;Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;.;.;GIT2_HUMAN;.	L	363;363;365;363;363;365;363;363;362;301;363;363	ENSP00000347464:S363L;ENSP00000353312:S363L;ENSP00000346585:S365L;ENSP00000340342:S363L;ENSP00000348595:S363L;ENSP00000391813:S365L;ENSP00000354282:S363L;ENSP00000447465:S363L;ENSP00000448832:S362L;ENSP00000450348:S363L;ENSP00000323833:S363L	ENSP00000323833:S363L	S	-	2	0	GIT2	108882046	0.831000	0.29352	0.983000	0.44433	0.970000	0.65996	2.008000	0.40893	1.373000	0.46208	0.585000	0.79938	TCG		0.453	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		5	32	0	0	0	1	0	5	32					A	110397663	G	A	110397663	3	1	52	1	0	0	0	0	1	0	0	0	6405	1059	37	1	1255	1	GIT2	12	110397663	Missense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08		110397663	23454232	78	9437										
CUX2	23316	broad.mit.edu	37	chr12	111785693	111785693	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tccgggtaatgatggactccCaaaagtggctcccgggcccc	12	14	0	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr12:111785693C>G	ENST00000261726.6	+	22	4179	c.4025C>G	c.(4024-4026)cCa>cGa	p.P1342R		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1342	Pro-rich.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GATGGACTCCCAAAAGTGGCT	0.642																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(4024-4026)cCa>cGa		cut-like homeobox 2							71	81	78					12																	111785693		1922	4096	6018	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111785693C>G	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4025C>G	12.37:g.111785693C>G	ENSP00000261726:p.Pro1342Arg		Somatic					p.P1342R	NM_015267.3	NP_056082.2	WXS	Illumina GAIIx	Phase_I	O14529	CUX2_HUMAN			22	4179	+			1342			Pro-rich.		A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.4025C>G	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	0.087	-1.172858	0.01646	.	.	ENSG00000111249	ENST00000261726	T	0.44482	0.92	5.44	0.066	0.14359	.	0.677681	0.14296	N	0.328622	T	0.20618	0.0496	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18871	-1.0323	10	0.13108	T	0.6	-1.2542	3.4813	0.07603	0.3093:0.4751:0.1025:0.113	.	1342	O14529	CUX2_HUMAN	R	1342	ENSP00000261726:P1342R	ENSP00000261726:P1342R	P	+	2	0	CUX2	110270076	0.000000	0.05858	0.082000	0.20525	0.024000	0.10985	-0.103000	0.10940	0.275000	0.22094	-0.270000	0.10280	CCA		0.642	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		42	145	0	0	0	1	0	42	145					G	111785693	C	G	111785693	3	3	52	1	0	0	0	0	1	0	0	0	4067	594	21	5	4111	5	CUX2	12	111785693	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	1388030	111785693	22066202	79	9438										
NOS1	4842	broad.mit.edu	37	chr12	117703237	117703237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gtcggcagggcagcccccccGgcagcggtactcattctcca	12	17	2	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr12:117703237G>A	ENST00000338101.4	-	11	2024	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.R674W			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)		CAGCCCCCCCGGCAGCGGTAC	0.607																																					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.(2020-2022)Cgg>Tgg		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						32	35	34					12																	117703237		2103	4261	6364	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.chr12:117703237G>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.2020C>T	12.37:g.117703237G>A	ENSP00000337459:p.Arg674Trp		Somatic				NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.R674W	p.R674W	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)	12	2705	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		674						Missense_Mutation	SNP	ENST00000338101.4	37	c.2020C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311401	0.81358	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.35789	1.29;1.29	5.37	4.45	0.53987	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77970	-0.2387	10	0.87932	D	0	-23.068	14.7805	0.69764	0.0:0.0:0.8501:0.1499	.	674	P29475	NOS1_HUMAN	W	569;674;674;674	ENSP00000320758:R674W;ENSP00000337459:R674W	ENSP00000320758:R674W	R	-	1	2	NOS1	116187620	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.106000	0.57804	1.437000	0.47472	0.655000	0.94253	CGG		0.607	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			9	8	0	0	0	1	0	9	8					A	117703237	G	A	117703237	3	1	52	1	0	0	0	0	1	0	0	0	10550	1115	39	1	2356	1	NOS1	12	117703237	Missense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	5917544	117703237	16148658	80	9439										
NBEA	26960	broad.mit.edu	37	chr13	36242543	36242543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gacggccagaacctggtcacCggaggggacaatggggtagt	17	9	1	1	rs371704256		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr13:36242543C>T	ENST00000400445.3	+	57	9171	c.8637C>T	c.(8635-8637)acC>acT	p.T2879T	NBEA_ENST00000379939.2_Silent_p.T2876T|NBEA_ENST00000310336.4_Silent_p.T2879T|NBEA_ENST00000379922.3_Silent_p.T457T|NBEA_ENST00000537702.1_Silent_p.T672T|NBEA_ENST00000540320.1_Silent_p.T2879T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2879					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACCTGGTCACCGGAGGGGACA	0.443																																						ENST00000400445.3																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(8635-8637)acC>acT		neurobeachin		C	,	1,3811		0,1,1905	46	48	47		2016,8637	-11.8	0	13		47	0,8242		0,0,4121	no	coding-synonymous,coding-synonymous	NBEA	NM_001204197.1,NM_015678.4	,	0,1,6026	TT,TC,CC		0.0,0.0262,0.0083	,	672/740,2879/2947	36242543	1,12053	1906	4121	6027	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36242543C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8637C>T	13.37:g.36242543C>T			Somatic				NBEA_ENST00000310336.4_Silent_p.T2879T|NBEA_ENST00000379939.2_Silent_p.T2876T|NBEA_ENST00000537702.1_Silent_p.T672T|NBEA_ENST00000379922.3_Silent_p.T457T|NBEA_ENST00000540320.1_Silent_p.T2879T	p.T2879T	NM_015678.4	NP_056493.3	WXS	Illumina GAIIx	Phase_I	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	57	9171	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2879					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.8637C>T	CCDS45026.1																																																																																				0.443	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		14	0	0	0	0	1	0	14	0					T	36242543	C	T	36242543	2	4	52	1	0	0	0	0	0	0	0	1	10196	639	23	1		1	NBEA	13	36242543	Silent	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08		36242543	78927335	81	9440										
FNDC3A	22862	broad.mit.edu	37	chr13	49775991	49775991	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	acaaagtacaaagacttaatGagtcaacatcctataaattc	4	8	1	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr13:49775991G>A	ENST00000492622.2	+	24	3348	c.3043G>A	c.(3043-3045)Gag>Aag	p.E1015K	FNDC3A_ENST00000541916.1_Missense_Mutation_p.E1015K|FNDC3A_ENST00000398316.3_Missense_Mutation_p.E959K	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1015	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AAGACTTAATGAGTCAACATC	0.358																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(3043-3045)Gag>Aag		fibronectin type III domain containing 3A							93	94	94					13																	49775991		2203	4299	6502	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49775991G>A	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.3043G>A	13.37:g.49775991G>A	ENSP00000417257:p.Glu1015Lys		Somatic				FNDC3A_ENST00000398316.3_Missense_Mutation_p.E959K|FNDC3A_ENST00000541916.1_Missense_Mutation_p.E1015K	p.E1015K	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	3348	+		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)	1015			Fibronectin type-III 8.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.3043G>A	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	35	5.580368	0.96565	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.57907	0.37;0.37;0.37	6.16	6.16	0.99307	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.77698	0.4169	M	0.89214	3.015	0.80722	D	1	D;P	0.89917	1.0;0.873	D;P	0.97110	1.0;0.882	T	0.74160	-0.3755	10	0.26408	T	0.33	-28.2534	19.848	0.96722	0.0:0.0:1.0:0.0	.	959;1015	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	K	1015;951;1015;959	ENSP00000417257:E1015K;ENSP00000441831:E1015K;ENSP00000381362:E959K	ENSP00000338579:E951K	E	+	1	0	FNDC3A	48673992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.414000	0.97362	2.937000	0.99478	0.650000	0.86243	GAG		0.358	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		32	8	0	0	0	1	0	32	8					A	49775991	G	A	49775991	3	1	52	1	0	0	0	0	1	0	0	0	5977	1291	45	3	3144	3	FNDC3A	13	49775991	Missense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	13533448	49775991	65393887	82	9441										
ATP11A	23250	broad.mit.edu	37	chr13	113488914	113488914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tcattgcagacttggctttaCctacctaaggctgaaggaca	9	10	1	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr13:113488914C>T	ENST00000487903.1	+	15	1659	c.1571C>T	c.(1570-1572)aCc>aTc	p.T524I	ATP11A_ENST00000375645.3_Missense_Mutation_p.T524I|ATP11A_ENST00000375630.2_Missense_Mutation_p.T524I|ATP11A_ENST00000283558.8_Missense_Mutation_p.T524I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	524					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTTGGCTTTACCTACCTAAGG	0.423																																						ENST00000487903.1																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(1570-1572)aCc>aTc		ATPase, class VI, type 11A							200	198	199					13																	113488914		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113488914C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1571C>T	13.37:g.113488914C>T	ENSP00000420387:p.Thr524Ile		Somatic				ATP11A_ENST00000283558.8_Missense_Mutation_p.T524I|ATP11A_ENST00000375630.2_Missense_Mutation_p.T524I|ATP11A_ENST00000375645.3_Missense_Mutation_p.T524I	p.T524I			WXS	Illumina GAIIx	Phase_I	P98196	AT11A_HUMAN			15	1659	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	524					Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.1571C>T	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.98|10.98	1.503119|1.503119	0.26949|0.26949	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.|T;T;T;T	.|0.63913	.|-0.07;-0.07;-0.07;-0.07	4.84|4.84	4.84|4.84	0.62591|0.62591	.|ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72581|0.72581	0.3478|0.3478	L|L	0.41961|0.41961	1.31|1.31	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.89917	.|1.0;0.043;0.009	.|D;B;B	.|0.97110	.|1.0;0.173;0.058	T|T	0.68379|0.68379	-0.5424|-0.5424	5|10	.|0.25106	.|T	.|0.35	.|.	18.3346|18.3346	0.90283|0.90283	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|524;524;524	.|E9PCW5;E9PEJ6;P98196	.|.;.;AT11A_HUMAN	S|I	499|524	.|ENSP00000420387:T524I;ENSP00000364781:T524I;ENSP00000364796:T524I;ENSP00000283558:T524I	.|ENSP00000283558:T524I	P|T	+|+	1|2	0|0	ATP11A|ATP11A	112536915|112536915	1.000000|1.000000	0.71417|0.71417	0.480000|0.480000	0.27341|0.27341	0.098000|0.098000	0.18820|0.18820	7.147000|7.147000	0.77382|0.77382	2.388000|2.388000	0.81334|0.81334	0.561000|0.561000	0.74099|0.74099	CCT|ACC		0.423	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		49	214	0	0	0	1	0	49	214					T	113488914	C	T	113488914	3	4	52	1	0	0	0	0	1	0	0	0	1119	507	18	3	1629	3	ATP11A	13	113488914	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	63712923	113488914	1680964	83	9442										
LRFN5	145581	broad.mit.edu	37	chr14	42360910	42360910	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	acaatgtgattcaatcttcaGaaacttgttcgagtcaggac	8	8	4	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr14:42360910G>T	ENST00000298119.4	+	4	3032	c.1843G>T	c.(1843-1845)Gaa>Taa	p.E615*	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	615						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)		TCAATCTTCAGAAACTTGTTC	0.483										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.(1843-1845)Gaa>Taa		leucine rich repeat and fibronectin type III domain containing 5							141	113	123					14																	42360910		2203	4300	6503	SO:0001587	stop_gained	145581					integral to membrane		g.chr14:42360910G>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.1843G>T	14.37:g.42360910G>T	ENSP00000298119:p.Glu615*	HNSCC(30;0.082)	Somatic				LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	p.E615*	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	3032	+			615					B3KU78|Q86XL2	Nonsense_Mutation	SNP	ENST00000298119.4	37	c.1843G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	47	13.860459	0.99767	.	.	ENSG00000165379	ENST00000298119	.	.	.	5.9	5.9	0.94986	.	0.205982	0.33650	N	0.004700	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	17.7706	0.88491	0.0:0.0:1.0:0.0	.	.	.	.	X	615	.	ENSP00000298119:E615X	E	+	1	0	LRFN5	41430660	0.996000	0.38824	0.999000	0.59377	0.979000	0.70002	2.941000	0.49011	2.808000	0.96608	0.650000	0.86243	GAA		0.483	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		16	36	1	0	0.000308642	1	0.000329528	16	36					T	42360910	G	T	42360910	4	4	52	1	0	0	0	0	0	1	0	0	8950	943	33	2	1849	2	LRFN5	14	42360910	Nonsense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08		42360910	64988630	84	9443										
C15orf2	23742	broad.mit.edu	37	chr15	24922694	24922694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	atttccactgtcacaacaaaCgcatctgcccacctaacctc	3	17	2	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr15:24922694C>T	ENST00000329468.2	+	1	2154	c.1680C>T	c.(1678-1680)aaC>aaT	p.N560N		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	560					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TCACAACAAACGCATCTGCCC	0.473																																						ENST00000329468.2																			0											c.(1678-1680)aaC>aaT		nuclear pore associated protein 1							159	147	151					15																	24922694		2203	4300	6503	SO:0001819	synonymous_variant	23742							g.chr15:24922694C>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.1680C>T	15.37:g.24922694C>T			Somatic					p.N560N	NM_018958.2	NP_061831.2	WXS	Illumina GAIIx	Phase_I					1	2154	+									Silent	SNP	ENST00000329468.2	37	c.1680C>T	CCDS10015.1																																																																																				0.473	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		44	73	0	0	0	1	0	44	73					T	24922694	C	T	24922694	2	4	52	1	0	0	0	0	0	0	0	1	1786	535	19	1		1	C15orf2	15	24922694	Silent	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08		24922694	77608698	85	9444										
RCN2	5955	broad.mit.edu	37	chr15	77224706	77224706	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tcgcttccccctaaaggaagAtgtggatgaatatgttaaac	9	8	0	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr15:77224706A>C	ENST00000394885.3	+	2	372	c.149A>C	c.(148-150)gAt>gCt	p.D50A	RCN2_ENST00000320963.5_Missense_Mutation_p.D50A|RCN2_ENST00000394883.3_Intron	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	50						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						CTAAAGGAAGATGTGGATGAA	0.473																																						ENST00000394885.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						c.(148-150)gAt>gCt		reticulocalbin 2, EF-hand calcium binding domain							64	54	58					15																	77224706		2196	4294	6490	SO:0001583	missense	5955					endoplasmic reticulum lumen	calcium ion binding	g.chr15:77224706A>C	X78669	CCDS10291.1, CCDS61719.1	15q22.33-q24.1	2013-01-10			ENSG00000117906	ENSG00000117906		"EF-hand domain containing"	9935	protein-coding gene	gene with protein product	"Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)"	602584				9533013, 7624774	Standard	NM_002902		Approved	ERC-55, E6BP, ERC55, TCBP49	uc002bcd.3	Q14257	OTTHUMG00000143730	ENST00000394885.3:c.149A>C	15.37:g.77224706A>C	ENSP00000378349:p.Asp50Ala		Somatic				RCN2_ENST00000394883.3_Intron|RCN2_ENST00000320963.5_Missense_Mutation_p.D50A	p.D50A	NM_002902.2	NP_002893.1	WXS	Illumina GAIIx	Phase_I	Q14257	RCN2_HUMAN			2	372	+			50					A8MTG6|F8WCY5|Q53XN8	Missense_Mutation	SNP	ENST00000394885.3	37	c.149A>C	CCDS10291.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546757	0.65198	.	.	ENSG00000117906	ENST00000394885;ENST00000320963	T;T	0.75050	-0.9;0.13	5.45	5.45	0.79879	.	0.329961	0.35525	N	0.003142	T	0.68247	0.2980	L	0.38175	1.15	0.80722	D	1	P;B	0.35575	0.51;0.191	B;B	0.36666	0.23;0.073	T	0.71915	-0.4448	10	0.72032	D	0.01	-5.953	15.5111	0.75782	1.0:0.0:0.0:0.0	.	50;50	F8WCY5;Q14257	.;RCN2_HUMAN	A	50	ENSP00000378349:D50A;ENSP00000319739:D50A	ENSP00000319739:D50A	D	+	2	0	RCN2	75011761	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.314000	0.59166	2.053000	0.61076	0.482000	0.46254	GAT		0.473	RCN2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289795.1	NM_002902		15	7	0	0	0	1	0	15	7					C	77224706	A	C	77224706	3	2	52	1	0	0	0	0	1	0	0	0	13195	333	12	4	155	4	RCN2	15	77224706	Missense_Mutation	SNP	A	TCGA-NF-A4X2-01A-11D-A28R-08	52302012	77224706	25306686	86	9445										
MESDC1	59274	broad.mit.edu	37	chr15	81294956	81294956	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gggggacagcctggtggagcTgggcgacctggtggtgtcgc	21	9	0	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr15:81294956T>C	ENST00000267984.2	+	1	1662	c.344T>C	c.(343-345)cTg>cCg	p.L115P		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	115										endometrium(1)|lung(2)	3						CTGGTGGAGCTGGGCGACCTG	0.726																																						ENST00000267984.2																			0				endometrium(1)|lung(2)	3						c.(343-345)cTg>cCg		mesoderm development candidate 1							13	11	12					15																	81294956		2004	3901	5905	SO:0001583	missense	59274							g.chr15:81294956T>C	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.344T>C	15.37:g.81294956T>C	ENSP00000267984:p.Leu115Pro		Somatic					p.L115P	NM_022566.2	NP_072088.1	WXS	Illumina GAIIx	Phase_I	Q9H1K6	MESD1_HUMAN			1	1662	+			115						Missense_Mutation	SNP	ENST00000267984.2	37	c.344T>C	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.097391	0.56075	.	.	ENSG00000140406	ENST00000267984	T	0.08634	3.07	4.02	2.89	0.33648	.	0.145674	0.40385	U	0.001102	T	0.06096	0.0158	N	0.08118	0	0.58432	D	0.999999	D	0.54207	0.965	P	0.47981	0.563	T	0.43491	-0.9388	10	0.54805	T	0.06	-9.9733	9.2357	0.37464	0.0:0.088:0.0:0.912	.	115	Q9H1K6	MESD1_HUMAN	P	115	ENSP00000267984:L115P	ENSP00000267984:L115P	L	+	2	0	MESDC1	79082011	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.493000	0.81493	0.531000	0.28639	0.260000	0.18958	CTG		0.726	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		3	16	0	0	0	1	0	3	16					C	81294956	T	C	81294956	3	2	52	1	0	0	0	0	1	0	0	0	9489	1580	55	4	346	4	MESDC1	15	81294956	Missense_Mutation	SNP	T	TCGA-NF-A4X2-01A-11D-A28R-08	4070250	81294956	21236436	87	9446										
CACNA1H	8912	broad.mit.edu	37	chr16	1251811	1251811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ggccagcttctccgagcctgGcagctgctacgaagagctgc	13	14	1	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr16:1251811G>A	ENST00000348261.5	+	9	1609	c.1361G>A	c.(1360-1362)gGc>gAc	p.G454D	CACNA1H_ENST00000358590.4_Missense_Mutation_p.G454D|CACNA1H_ENST00000565831.1_Missense_Mutation_p.G454D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	454					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)	TCCGAGCCTGGCAGCTGCTAC	0.657																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(1360-1362)gGc>gAc		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						18	22	21					16																	1251811		2148	4243	6391	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1251811G>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		ENST00000348261.5:c.1361G>A	16.37:g.1251811G>A	ENSP00000334198:p.Gly454Asp		Somatic				CACNA1H_ENST00000358590.4_Missense_Mutation_p.G454D|CACNA1H_ENST00000565831.1_Missense_Mutation_p.G454D	p.G454D	NM_021098.2	NP_066921.2	WXS	Illumina GAIIx	Phase_I	O95180	CAC1H_HUMAN			9	1609	+		Hepatocellular(780;0.00369)	454					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.1361G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485058	0.84854	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97279	-4.32;-4.28	3.86	3.86	0.44501	.	0.480628	0.22244	N	0.062659	D	0.98223	0.9412	M	0.80183	2.485	0.42803	D	0.993939	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98917	1.0782	10	0.54805	T	0.06	.	14.9564	0.71116	0.0:0.0:1.0:0.0	.	454;454	O95180-2;O95180	.;CAC1H_HUMAN	D	454	ENSP00000334198:G454D;ENSP00000351401:G454D	ENSP00000334198:G454D	G	+	2	0	CACNA1H	1191812	1.000000	0.71417	0.992000	0.48379	0.921000	0.55340	7.382000	0.79729	1.989000	0.58080	0.549000	0.68633	GGC		0.657	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		12	0	0	0	0	1	0	12	0					A	1251811	G	A	1251811	3	1	52	1	0	0	0	0	1	0	0	0	2547	1203	42	3	1391	3	CACNA1H	16	1251811	Missense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08		1251811	89102942	88	9447										
XAF1	54739	broad.mit.edu	37	chr17	6676464	6676464	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tggttagcttcatcaaaaggAaaacaagtgagaaatttcag	9	5	3	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:6676464A>G	ENST00000361842.3	+	7	1121	c.882A>G	c.(880-882)ggA>ggG	p.G294G	XAF1_ENST00000441631.1_Silent_p.G294G|XAF1_ENST00000346752.4_Silent_p.G275G	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	294					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)			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						CATCAAAAGGAAAACAAGTGA	0.353																																						ENST00000361842.3																			0				large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						c.(880-882)ggA>ggG		XIAP associated factor 1							87	87	87					17																	6676464		2203	4300	6503	SO:0001819	synonymous_variant	54739				apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding	g.chr17:6676464A>G	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.882A>G	17.37:g.6676464A>G			Somatic				XAF1_ENST00000441631.1_Silent_p.G294G|XAF1_ENST00000346752.4_Silent_p.G275G	p.G294G	NM_017523.3	NP_059993.2	WXS	Illumina GAIIx	Phase_I	Q6GPH4	XAF1_HUMAN			7	1121	+			294					A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	Silent	SNP	ENST00000361842.3	37	c.882A>G	CCDS11080.1																																																																																				0.353	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439643.5	NM_017523		5	19	0	0	0	1	0	5	19					G	6676464	A	G	6676464	2	3	52	1	0	0	0	0	0	0	0	1	17434	233	9	4		4	XAF1	17	6676464	Silent	SNP	A	TCGA-NF-A4X2-01A-11D-A28R-08		6676464	74518746	89	9448										
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67	58	61					17																	7577120		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.chr17:7577120C>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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	p.R273H	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	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	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.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	0	0	0	0	1	0	26	0					T	7577120	C	T	7577120	3	4	52	1	0	0	0	0	1	0	0	0	16396	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	900656	7577120	73618090	90	9449										
ALOX15B	247	broad.mit.edu	37	chr17	7950683	7950683	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	cttctccaagggcttcctaaAccaggagagctcaggtacag	10	12	2	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:7950683A>T	ENST00000380183.4	+	11	1704	c.1565A>T	c.(1564-1566)aAc>aTc	p.N522I	ALOX15B_ENST00000380173.2_Missense_Mutation_p.N493I|ALOX15B_ENST00000573359.1_Intron|ALOX15B_ENST00000572022.1_Missense_Mutation_p.N510I	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	522	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GGCTTCCTAAACCAGGAGAGC	0.567																																						ENST00000380183.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						c.(1564-1566)aAc>aTc		arachidonate 15-lipoxygenase, type B							75	77	76					17																	7950683		2203	4300	6503	SO:0001583	missense	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7950683A>T	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.1565A>T	17.37:g.7950683A>T	ENSP00000369530:p.Asn522Ile		Somatic				ALOX15B_ENST00000380173.2_Missense_Mutation_p.N493I|ALOX15B_ENST00000572022.1_Missense_Mutation_p.N510I|ALOX15B_ENST00000573359.1_Intron	p.N522I	NM_001141.2	NP_001132.2	WXS	Illumina GAIIx	Phase_I	O15296	LX15B_HUMAN			11	1704	+			522			Lipoxygenase.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	c.1565A>T	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	A	4.749	0.139301	0.09083	.	.	ENSG00000179593	ENST00000380173;ENST00000380183	T;T	0.77098	-1.07;-1.07	3.95	0.708	0.18144	Lipoxygenase, C-terminal (3);	1.132720	0.06353	N	0.710291	T	0.63343	0.2503	N	0.20986	0.625	0.09310	N	1	B;B;B	0.29909	0.261;0.22;0.165	B;B;B	0.24701	0.055;0.033;0.055	T	0.54262	-0.8320	10	0.87932	D	0	-4.7501	6.0292	0.19671	0.2076:0.4774:0.3149:0.0	.	510;493;522	B4DNW8;O15296-4;O15296	.;.;LX15B_HUMAN	I	493;522	ENSP00000369520:N493I;ENSP00000369530:N522I	ENSP00000369520:N493I	N	+	2	0	ALOX15B	7891408	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	1.031000	0.30165	0.079000	0.16929	-0.242000	0.12053	AAC		0.567	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			8	34	0	0	0	1	0	8	34					T	7950683	A	T	7950683	3	4	52	1	0	0	0	0	1	0	0	0	539	43	2	4	1607	4	ALOX15B	17	7950683	Missense_Mutation	SNP	A	TCGA-NF-A4X2-01A-11D-A28R-08	373563	7950683	73244527	91	9450										
HS3ST3A1	9955	broad.mit.edu	37	chr17	13504291	13504291	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ccgccggacagccccacgacGgggccggacagggtctggca	16	16	1	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:13504291G>A	ENST00000284110.1	-	1	953	c.156C>T	c.(154-156)ccC>ccT	p.P52P		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	52					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCCCCACGACGGGGCCGGACA	0.726																																						ENST00000284110.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(154-156)ccC>ccT		heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1							14	13	13					17																	13504291		2146	4222	6368	SO:0001819	synonymous_variant	9955					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:13504291G>A	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"Sulfotransferases, membrane-bound"	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.156C>T	17.37:g.13504291G>A			Somatic					p.P52P	NM_006042.1	NP_006033.1	WXS	Illumina GAIIx	Phase_I	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	1	953	-		all_lung(20;0.114)	52					A8K7N2	Silent	SNP	ENST00000284110.1	37	c.156C>T	CCDS11165.1																																																																																				0.726	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		3	4	0	0	0	1	0	3	4					A	13504291	G	A	13504291	2	1	52	1	0	0	0	0	0	0	0	1	7374	1103	39	1		1	HS3ST3A1	17	13504291	Silent	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	5553608	13504291	67690919	92	9451										
FAM83G	644815	broad.mit.edu	37	chr17	18881910	18881910	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gatcttggcaatctcgtcgaCgctcttggccttgacaagtg	11	11	3	1	rs199697114		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:18881910C>A	ENST00000388995.6	-	5	1292	c.1069G>T	c.(1069-1071)Gtc>Ttc	p.V357F	FAM83G_ENST00000345041.4_Missense_Mutation_p.V357F|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.V357F|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	357					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						ATCTCGTCGACGCTCTTGGCC	0.627																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1069-1071)Gtc>Ttc		family with sequence similarity 83, member G							68	76	73					17																	18881910		2000	4157	6157	SO:0001583	missense	644815							g.chr17:18881910C>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.1069G>T	17.37:g.18881910C>A	ENSP00000373647:p.Val357Phe		Somatic				SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.V357F|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.V357F|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron	p.V357F			WXS	Illumina GAIIx	Phase_I	A6ND36	FA83G_HUMAN			5	1292	-			357					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.1069G>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	7.984	0.751740	0.15778	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.12361	2.69;2.69	5.39	5.39	0.77823	.	0.260739	0.32055	N	0.006659	T	0.10895	0.0266	N	0.22421	0.69	0.09310	N	1	B	0.17852	0.024	B	0.09377	0.004	T	0.23261	-1.0193	10	0.12430	T	0.62	-3.9157	19.1516	0.93491	0.0:1.0:0.0:0.0	.	357	A6ND36	FA83G_HUMAN	F	357	ENSP00000373647:V357F;ENSP00000343279:V357F	ENSP00000343279:V357F	V	-	1	0	FAM83G	18822635	0.571000	0.26659	0.018000	0.16275	0.078000	0.17371	3.179000	0.50887	2.537000	0.85549	0.491000	0.48974	GTC		0.627	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			34	58	1	0	6.00712e-18	1	7.2907e-18	34	58					A	18881910	C	A	18881910	3	1	52	1	0	0	0	0	1	0	0	0	5647	536	19	5	1410	5	FAM83G	17	18881910	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	5377619	18881910	62313300	93	9452										
CORO6	84940	broad.mit.edu	37	chr17	27945807	27945807	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gtggccaggccaggcactcaCcgccaccacttggccttttc	10	17	1	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:27945807C>G	ENST00000445145.2	-	4	635		c.e4+1		CORO6_ENST00000345068.5_Splice_Site|CORO6_ENST00000456796.3_5'Flank|CORO6_ENST00000584969.1_Splice_Site|CORO6_ENST00000388767.3_Splice_Site|CORO6_ENST00000580212.1_Splice_Site|RP11-68I3.10_ENST00000582367.1_RNA|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_Intron			Q6QEF8	CORO6_HUMAN	coronin 6						actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CAGGCACTCACCGCCACCACT	0.602																																						ENST00000345068.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						c.e5+1		coronin 6							48	49	48					17																	27945807		2084	4196	6280	SO:0001630	splice_region_variant	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27945807C>G	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"Coronins", "WD repeat domain containing"	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.633+1G>C	17.37:g.27945807C>G			Somatic				CORO6_ENST00000445145.2_Splice_Site|CORO6_ENST00000584969.1_Splice_Site|CORO6_ENST00000388767.3_Splice_Site|CORO6_ENST00000580212.1_Splice_Site|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_Intron				WXS	Illumina GAIIx	Phase_I	Q6QEF8	CORO6_HUMAN			5	847	-								B3KU26|Q71MF3|Q8WYH7|Q96K02	Splice_Site	SNP	ENST00000445145.2	37			.	.	.	.	.	.	.	.	.	.	C	26.0	4.692356	0.88735	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1313	0.98000	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CORO6	24969933	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.398000	0.79919	2.837000	0.97791	0.655000	0.94253	.		0.602	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854	Intron	15	25	0	0	0	1	0	15	25					G	27945807	C	G	27945807	5	3	52	1	0	0	0	0	0	0	1	0	3760	521	18	5	812	5	CORO6	17	27945807	Splice_Site	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	9063897	27945807	53249403	94	9453										
POTEC	388468	broad.mit.edu	37	chr18	14542810	14542810	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gcgcccacgttgctcttgccGctccccctgcagcaggggaa	12	17	1	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr18:14542810G>T	ENST00000358970.5	-	1	335	c.336C>A	c.(334-336)agC>agA	p.S112R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	112										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCTTGCCGCTCCCCCTGC	0.592																																						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.(334-336)agC>agA		POTE ankyrin domain family, member C							32	42	39					18																	14542810		692	1590	2282	SO:0001583	missense	388468							g.chr18:14542810G>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.336C>A	18.37:g.14542810G>T	ENSP00000351856:p.Ser112Arg		Somatic				POTEC_ENST00000389891.4_5'UTR	p.S112R	NM_001137671.1	NP_001131143.1	WXS	Illumina GAIIx	Phase_I	B2RU33	POTEC_HUMAN			1	335	-			112						Missense_Mutation	SNP	ENST00000358970.5	37	c.336C>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	G	1.942	-0.443377	0.04604	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.31247	1.5	0.15	-0.299	0.12808	.	.	.	.	.	T	0.19127	0.0459	L	0.42245	1.32	0.09310	N	1	P	0.41929	0.765	B	0.37047	0.24	T	0.10917	-1.0609	8	0.33940	T	0.23	.	.	.	.	.	112	B2RU33	POTEC_HUMAN	R	112	ENSP00000351856:S112R	ENSP00000351856:S112R	S	-	3	2	POTEC	14532810	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.226000	0.09139	-1.047000	0.03242	-1.042000	0.02369	AGC		0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		121	163	1	0	1.19196e-58	1	1.53871e-58	121	163					T	14542810	G	T	14542810	3	4	52	1	0	0	0	0	1	0	0	0	12271	1078	38	5	1336	5	POTEC	18	14542810	Missense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08		14542810	63534438	95	9454										
CDH2	1000	broad.mit.edu	37	chr18	25585840	25585840	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tgatccctcaggaactgtccCattccaaacctggtgtaaga	8	12	1	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr18:25585840C>A	ENST00000269141.3	-	6	1243	c.820G>T	c.(820-822)Ggg>Tgg	p.G274W	CDH2_ENST00000399380.3_Missense_Mutation_p.G243W	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	274	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						GGAACTGTCCCATTCCAAACC	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.(820-822)Ggg>Tgg		cadherin 2, type 1, N-cadherin (neuronal)							143	136	139					18																	25585840		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.chr18:25585840C>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.820G>T	18.37:g.25585840C>A	ENSP00000269141:p.Gly274Trp		Somatic				CDH2_ENST00000399380.3_Missense_Mutation_p.G243W	p.G274W	NM_001792.3	NP_001783.2	WXS	Illumina GAIIx	Phase_I	P19022	CADH2_HUMAN			6	1243	-			274			Cadherin 2.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.820G>T	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287516	0.80803	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.53640	0.61;0.61	5.54	5.54	0.83059	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.70527	0.3234	M	0.91406	3.205	0.80722	D	1	P;P	0.51351	0.944;0.814	P;B	0.55112	0.769;0.423	T	0.77338	-0.2625	10	0.72032	D	0.01	.	16.1298	0.81418	0.1342:0.8658:0.0:0.0	.	243;274	A8MWK3;P19022	.;CADH2_HUMAN	W	274;243	ENSP00000269141:G274W;ENSP00000382312:G243W	ENSP00000269141:G274W	G	-	1	0	CDH2	23839838	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.730000	0.68546	2.761000	0.94854	0.655000	0.94253	GGG		0.388	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		28	106	1	0	1.55811e-20	1	1.90734e-20	28	106					A	25585840	C	A	25585840	3	1	52	1	0	0	0	0	1	0	0	0	3107	594	21	5	1944	5	CDH2	18	25585840	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	11043030	25585840	52491408	96	9455										
SLC14A2	8170	broad.mit.edu	37	chr18	43252989	43252989	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ttgcttgcatgcagcaattgGatccaccatggggatgctag	12	9	0	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr18:43252989G>T	ENST00000255226.6	+	17	3170	c.2354G>T	c.(2353-2355)gGa>gTa	p.G785V	SLC14A2_ENST00000589658.1_Missense_Mutation_p.G262V|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.G785V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	785					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						GCAGCAATTGGATCCACCATG	0.527																																						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.(2353-2355)gGa>gTa		solute carrier family 14 (urea transporter), member 2							222	177	192					18																	43252989		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43252989G>T	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.2354G>T	18.37:g.43252989G>T	ENSP00000255226:p.Gly785Val		Somatic				SLC14A2_ENST00000586448.1_Missense_Mutation_p.G785V|SLC14A2_ENST00000589658.1_Missense_Mutation_p.G262V|RP11-116O18.3_ENST00000589510.1_RNA	p.G785V	NM_007163.3	NP_009094.3	WXS	Illumina GAIIx	Phase_I	Q15849	UT2_HUMAN			17	3170	+			785					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.2354G>T	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923945	0.92319	.	.	ENSG00000132874	ENST00000255226	T	0.63096	-0.02	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000014	D	0.86818	0.6024	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90267	0.4305	10	0.87932	D	0	-14.2218	20.0212	0.97504	0.0:0.0:1.0:0.0	.	785	Q15849	UT2_HUMAN	V	785	ENSP00000255226:G785V	ENSP00000255226:G785V	G	+	2	0	SLC14A2	41506987	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	9.476000	0.97823	2.735000	0.93741	0.561000	0.74099	GGA		0.527	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			37	122	1	0	1.47197e-15	1	1.77135e-15	37	122					T	43252989	G	T	43252989	3	4	52	1	0	0	0	0	1	0	0	0	14412	1174	41	2	2416	2	SLC14A2	18	43252989	Missense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	17667149	43252989	34824259	97	9456										
ARHGEF18	23370	broad.mit.edu	37	chr19	7534894	7534894	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gccctatcctgcccggcagaCacagtcctgcgcccccacca	8	21	0	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:7534894C>A	ENST00000359920.6	+	18	3581	c.3328C>A	c.(3328-3330)Cac>Aac	p.H1110N	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.H952N|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.D1067E	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	1110	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCCCGGCAGACACAGTCCTGC	0.662																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(3328-3330)Cac>Aac		Rho/Rac guanine nucleotide exchange factor (GEF) 18							57	67	63					19																	7534894		2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7534894C>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.3328C>A	19.37:g.7534894C>A	ENSP00000352995:p.His1110Asn		Somatic				CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.D1067E|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.H952N	p.H1110N	NM_001130955.1	NP_001124427.1	WXS	Illumina GAIIx	Phase_I	Q6ZSZ5	ARHGI_HUMAN			18	3581	+		Renal(5;0.0902)	1110			Pro-rich.		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.3328C>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976522	0.34848	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.29917	1.57;1.55	5.41	4.35	0.52113	.	0.404280	0.20912	N	0.083459	T	0.21962	0.0529	L	0.36672	1.1	0.33953	D	0.644698	B;B	0.32467	0.372;0.255	B;B	0.26864	0.074;0.023	T	0.25257	-1.0137	10	0.17832	T	0.49	-10.2431	13.0193	0.58777	0.1624:0.8376:0.0:0.0	.	952;1110	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	N	952;1110	ENSP00000319200:H952N;ENSP00000352995:H1110N	ENSP00000319200:H952N	H	+	1	0	ARHGEF18	7440894	0.925000	0.31364	0.038000	0.18304	0.007000	0.05969	1.999000	0.40806	1.230000	0.43646	0.561000	0.74099	CAC		0.662	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		4	108	1	0	0.150653	1	0.151722	4	108					A	7534894	C	A	7534894	3	1	52	1	0	0	0	0	1	0	0	0	901	478	17	5	3398	5	ARHGEF18	19	7534894	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08		7534894	51594089	98	9457										
C19orf59	199675	broad.mit.edu	37	chr19	7743070	7743070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ccatcctgagcctgtacatcCtcctggccctggcctttgtc	8	17	0	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:7743070C>T	ENST00000333598.3	+	3	719	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	TRAPPC5_ENST00000317378.5_5'Flank|C19orf59_ENST00000597445.1_Missense_Mutation_p.L46F|TRAPPC5_ENST00000596148.1_5'Flank|TRAPPC5_ENST00000426877.2_5'Flank|CTD-3214H19.16_ENST00000597959.1_5'Flank	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN		89						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						CCTGTACATCCTCCTGGCCCT	0.592											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333598.3																			0				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						c.(265-267)Ctc>Ttc		chromosome 19 open reading frame 59							128	116	120					19																	7743070		2203	4300	6503	SO:0001583	missense	199675					integral to membrane		g.chr19:7743070C>T																												ENST00000333598.3:c.265C>T	19.37:g.7743070C>T	ENSP00000329920:p.Leu89Phe		Somatic	OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	C19orf59_ENST00000597445.1_Missense_Mutation_p.L46F	p.L89F	NM_174918.2	NP_777578.2	WXS	Illumina GAIIx	Phase_I	Q8IX19	MCEM1_HUMAN			3	719	+			89					Q8IX20	Missense_Mutation	SNP	ENST00000333598.3	37	c.265C>T	CCDS12183.1	.	.	.	.	.	.	.	.	.	.	C	7.121	0.577901	0.13686	.	.	ENSG00000183019	ENST00000333598	T	0.33865	1.39	3.94	1.76	0.24704	.	0.206931	0.24403	N	0.038827	T	0.21631	0.0521	N	0.20986	0.625	0.09310	N	0.999995	P	0.49253	0.921	B	0.41988	0.372	T	0.08889	-1.0700	10	0.44086	T	0.13	-13.2916	6.8038	0.23766	0.0:0.767:0.0:0.233	.	89	Q8IX19	MCEM1_HUMAN	F	89	ENSP00000329920:L89F	ENSP00000329920:L89F	L	+	1	0	C19orf59	7649070	0.015000	0.18098	0.040000	0.18447	0.018000	0.09664	0.244000	0.18124	0.398000	0.25338	0.561000	0.74099	CTC		0.592	C19orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461248.1			31	188	0	0	0	1	0	31	188					T	7743070	C	T	7743070	3	4	52	1	0	0	0	0	1	0	0	0	1942	681	24	3	275	3	C19orf59	19	7743070	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	208176	7743070	51385913	99	9458										
PRAM1	4670	broad.mit.edu	37	chr19	8555562	8555562	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ctccccgcgccggatcccgaGgtgcttgccacccccgcgac	11	21	0	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:8555562G>A	ENST00000325495.4	+	0	2494				PRAM1_ENST00000423345.4_Missense_Mutation_p.L608F|PRAM1_ENST00000255612.3_Missense_Mutation_p.L607F	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						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						CGGATCCCGAGGTGCTTGCCA	0.617																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(1822-1824)Ctc>Ttc		PML-RARA regulated adaptor molecule 1							16	19	18					19																	8555562		2053	4175	6228	SO:0001628	intergenic_variant	84106						lipid binding|protein binding	g.chr19:8555562G>A	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		19.37:g.8555562G>A			Somatic				PRAM1_ENST00000255612.3_Missense_Mutation_p.L607F	p.L608F			WXS	Illumina GAIIx	Phase_I	Q96QH2	PRAM_HUMAN			7	2342	-			656					Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1822C>T	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018702	0.54576	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.59364	0.27;0.29	5.18	4.13	0.48395	Src homology-3 domain (2);	0.000000	0.31922	N	0.006853	T	0.69369	0.3103	L	0.57536	1.79	0.42318	D	0.992248	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71642	-0.4531	10	0.87932	D	0	.	10.196	0.43054	0.0976:0.0:0.9024:0.0	.	608;656	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	F	607;608	ENSP00000255612:L607F;ENSP00000408342:L608F	ENSP00000255612:L607F	L	-	1	0	PRAM1	8461562	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	2.055000	0.41345	2.573000	0.86826	0.462000	0.41574	CTC		0.617	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			3	21	0	0	0	1	0	3	21					A	8555562	G	A	8555562	1	1	52	0	1	0	0	0	0	0	0	0	12435	1000	35	3		3	PRAM1	19	8555562	IGR	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	812492	8555562	50573421	100	9459										
FCHO1	23149	broad.mit.edu	37	chr19	17899082	17899082	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	acccctccccctcacagctgCacccccacagggatgtacct	6	21	1	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:17899082C>T	ENST00000596536.1	+	29	2930				FCHO1_ENST00000596951.1_Intron|FCHO1_ENST00000252771.7_Intron|FCHO1_ENST00000597512.1_Intron|FCHO1_ENST00000389133.4_Intron|FCHO1_ENST00000594202.1_Missense_Mutation_p.A884V|FCHO1_ENST00000539407.1_Intron|FCHO1_ENST00000595033.1_Intron|FCHO1_ENST00000600676.1_Intron	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1						clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CTCACAGCTGCACCCCCACAG	0.647																																						ENST00000594202.1																			0				NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						c.(2650-2652)gCa>gTa		FCH domain only 1							24	21	22					19																	17899082		2203	4298	6501	SO:0001627	intron_variant	23149							g.chr19:17899082C>T	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.2648-11C>T	19.37:g.17899082C>T			Somatic				FCHO1_ENST00000596951.1_Intron|FCHO1_ENST00000597512.1_Intron|FCHO1_ENST00000252771.7_Intron|FCHO1_ENST00000539407.1_Intron|FCHO1_ENST00000595033.1_Intron|FCHO1_ENST00000600676.1_Intron|FCHO1_ENST00000389133.4_Intron|FCHO1_ENST00000596536.1_Intron	p.A884V	NM_001161357.1	NP_001154829.1	WXS	Illumina GAIIx	Phase_I	O14526	FCHO1_HUMAN			29	2930	+			0					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.2651C>T	CCDS32955.1																																																																																				0.647	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		13	12	0	0	0	1	0	13	12					T	17899082	C	T	17899082	1	4	52	0	1	0	0	0	0	0	0	0	5795	710	25	3		3	FCHO1	19	17899082	Intron	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	9343520	17899082	41229901	101	9460										
ZNF780A	284323	broad.mit.edu	37	chr19	40581487	40581487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ctgaataaggtgtgcaccacGattaaagcctttcccacact	7	12	0	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:40581487G>A	ENST00000595687.2	-	6	1071	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	ZNF780A_ENST00000455521.1_Missense_Mutation_p.R289C|ZNF780A_ENST00000450241.2_Missense_Mutation_p.R254C|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R289C|ZNF780A_ENST00000340963.5_Missense_Mutation_p.R288C|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	288					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.R254C(1)|p.R289C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTGCACCACGATTAAAGCCT	0.388																																						ENST00000450241.2																			2	Substitution - Missense(2)	p.R254C(1)|p.R289C(1)	lung(2)	breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(760-762)Cgt>Tgt		zinc finger protein 780A							186	185	186					19																	40581487		2203	4298	6501	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581487G>A	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.862C>T	19.37:g.40581487G>A	ENSP00000472189:p.Arg288Cys		Somatic				ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R289C|ZNF780A_ENST00000340963.5_Missense_Mutation_p.R288C|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R289C|ZNF780A_ENST00000595687.2_Missense_Mutation_p.R288C|AC005614.5_ENST00000595508.1_RNA	p.R254C			WXS	Illumina GAIIx	Phase_I	O75290	Z780A_HUMAN			6	1071	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		288					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.760C>T	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323956	0.60634	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.22134	1.97;1.97	1.92	1.92	0.25849	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34629	0.0904	L	0.49513	1.565	0.19775	N	0.999952	D;D	0.89917	1.0;1.0	D;D	0.68765	0.943;0.96	T	0.08534	-1.0717	9	0.35671	T	0.21	.	9.4146	0.38514	0.0:0.0:1.0:0.0	.	289;288	E9PB48;O75290	.;Z780A_HUMAN	C	288;289;288	ENSP00000400997:R289C;ENSP00000341507:R288C	ENSP00000341507:R288C	R	-	1	0	ZNF780A	45273327	0.000000	0.05858	0.153000	0.22517	0.776000	0.43924	-0.418000	0.07080	1.040000	0.40099	0.305000	0.20034	CGT		0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		78	128	0	0	0	1	0	78	128					A	40581487	G	A	40581487	3	1	52	1	0	0	0	0	1	0	0	0	18167	1058	37	1	1194	1	ZNF780A	19	40581487	Missense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	22682405	40581487	18547496	102	9461										
LTBP4	8425	broad.mit.edu	37	chr19	41111336	41111336	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gcatctatggtgagcgtccaCgtggagcacccgcaggaggc	15	12	1	1	rs370039703		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:41111336C>G	ENST00000308370.7	+	6	669	c.669C>G	c.(667-669)caC>caG	p.H223Q	LTBP4_ENST00000545697.1_5'UTR|RN7SL758P_ENST00000580450.1_RNA|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.H156Q|LTBP4_ENST00000204005.9_Missense_Mutation_p.H186Q	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	223					extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAGCGTCCACGTGGAGCACC	0.692																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(667-669)caC>caG		latent transforming growth factor beta binding protein 4							23	26	25					19																	41111336		1981	4094	6075	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41111336C>G	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.669C>G	19.37:g.41111336C>G	ENSP00000311905:p.His223Gln		Somatic				LTBP4_ENST00000204005.9_Missense_Mutation_p.H186Q|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.H156Q	p.H223Q	NM_001042544.1	NP_001036009.1	WXS	Illumina GAIIx	Phase_I	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		6	669	+			223					O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.669C>G		.	.	.	.	.	.	.	.	.	.	C	19.60	3.857515	0.71834	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819	D;D;T	0.81908	-1.52;-1.55;-1.49	3.97	-0.726	0.11170	.	0.000000	0.39475	N	0.001344	D	0.83362	0.5238	L	0.58101	1.795	0.80722	D	1	D;D;D	0.61697	0.99;0.99;0.99	P;P;P	0.58266	0.698;0.836;0.771	T	0.79325	-0.1850	10	0.45353	T	0.12	.	7.3161	0.26501	0.0:0.474:0.0:0.526	.	156;223;186	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	Q	186;223;156	ENSP00000204005:H186Q;ENSP00000311905:H223Q;ENSP00000380031:H156Q	ENSP00000204005:H186Q	H	+	3	2	LTBP4	45803176	0.988000	0.35896	0.999000	0.59377	0.996000	0.88848	0.081000	0.14823	0.036000	0.15547	0.561000	0.74099	CAC		0.692	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		13	51	0	0	0	1	0	13	51					G	41111336	C	G	41111336	3	3	52	1	0	0	0	0	1	0	0	0	9085	535	19	5	984	5	LTBP4	19	41111336	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	529849	41111336	18017647	103	9462										
DMPK	1760	broad.mit.edu	37	chr19	46274875	46274875	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	atccgctcctgcaactgccgGacgtgtgcctctaggtcccg	11	16	1	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:46274875G>A	ENST00000291270.4	-	12	1676	c.1551C>T	c.(1549-1551)gtC>gtT	p.V517V	AC074212.6_ENST00000590076.1_RNA|SIX5_ENST00000560168.1_5'Flank|AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000600757.1_Silent_p.V522V|DMPK_ENST00000458663.2_Silent_p.V512V|AC074212.5_ENST00000559756.1_RNA|DMPK_ENST00000343373.4_Silent_p.V527V|AC074212.6_ENST00000591530.1_RNA|AC074212.6_ENST00000586498.1_RNA|DMPK_ENST00000354227.5_Silent_p.V512V|AC074212.5_ENST00000592217.2_RNA|SIX5_ENST00000317578.6_5'Flank|DMPK_ENST00000447742.2_Silent_p.V512V	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	517					cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCAACTGCCGGACGTGTGCCT	0.672																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(1564-1566)gtC>gtT		dystrophia myotonica-protein kinase							64	57	59					19																	46274875		2203	4300	6503	SO:0001819	synonymous_variant	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46274875G>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1551C>T	19.37:g.46274875G>A			Somatic				AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000458663.2_Silent_p.V512V|DMPK_ENST00000447742.2_Silent_p.V512V|DMPK_ENST00000343373.4_Silent_p.V527V|DMPK_ENST00000291270.4_Silent_p.V517V|AC074212.6_ENST00000586498.1_RNA|DMPK_ENST00000354227.5_Silent_p.V512V|AC074212.6_ENST00000591530.1_RNA|AC074212.6_ENST00000590076.1_RNA	p.V522V			WXS	Illumina GAIIx	Phase_I	Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	11	2253	-		Ovarian(192;0.0308)|all_neural(266;0.112)	527					E5KR08|Q16205|Q6P5Z6	Silent	SNP	ENST00000291270.4	37	c.1566C>T	CCDS12674.1																																																																																				0.672	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		18	51	0	0	0	1	0	18	51					A	46274875	G	A	46274875	2	1	52	1	0	0	0	0	0	0	0	1	4586	1161	41	3		3	DMPK	19	46274875	Silent	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	5163539	46274875	12854108	104	9463										
SYMPK	8189	broad.mit.edu	37	chr19	46320139	46320139	+	Frame_Shift_Del	DEL	G	G	-													0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	aaagacggctcccagctgctGgggcggcagctgcaggatga							TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:46320139delG	ENST00000245934.7	-	24	3419	c.3175delC	c.(3175-3177)cagfs	p.Q1060fs	RSPH6A_ENST00000597055.1_5'Flank|SYMPK_ENST00000598155.1_5'UTR|RSPH6A_ENST00000221538.3_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1060					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)		CCCAGCTGCTGGGGCGGCAGC	0.652											OREG0025562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(3175-3177)agfs		symplekin							18	18	18					19																	46320139		2156	4216	6372	SO:0001589	frameshift_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46320139delG	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.3175delC	19.37:g.46320139delG	ENSP00000245934:p.Gln1060fs		Somatic	OREG0025562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	938	SYMPK_ENST00000598155.1_5'UTR	p.Q1060fs	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)	24	3419	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	1060					O00521|O00689|O00733|Q59GT5|Q8N2U5	Frame_Shift_Del	DEL	ENST00000245934.7	37	c.3175delC	CCDS12676.2																																																																																				0.652	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		2	4						2	4	---	---	---	---	-	46320139	G	-	46320139	7	5	52	1	0	1	0	1	0	0	0	0	15454	1357	47	0	665	0	SYMPK	19	46320139	Frame_Shift_Del	DEL	G	TCGA-NF-A4X2-01A-11D-A28R-08	45264	46320139	12808844	105	9464										
NTN5	126147	broad.mit.edu	37	chr19	49174007	49174007	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	cctggggtacagaagcgcaaGctgacagatgtcaggaggaa	15	8	1	3			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:49174007G>A	ENST00000270235.4	-	2	332	c.237C>T	c.(235-237)agC>agT	p.S79S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	79						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						AGAAGCGCAAGCTGACAGATG	0.667																																						ENST00000270235.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						c.(235-237)agC>agT		netrin 5							24	27	26					19																	49174007		2203	4299	6502	SO:0001819	synonymous_variant	126147					extracellular region		g.chr19:49174007G>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.237C>T	19.37:g.49174007G>A			Somatic				SEC1P_ENST00000430145.2_RNA	p.S79S	NM_145807.1	NP_665806.1	WXS	Illumina GAIIx	Phase_I	Q8WTR8	NET5_HUMAN			2	332	-			79					Q8N4X9|Q8WU63	Silent	SNP	ENST00000270235.4	37	c.237C>T	CCDS33068.1																																																																																				0.667	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		33	20	0	0	0	1	0	33	20					A	49174007	G	A	49174007	2	1	52	1	0	0	0	0	0	0	0	1	10712	962	34	3		3	NTN5	19	49174007	Silent	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	2853868	49174007	9954976	106	9465										
PLEKHA4	57664	broad.mit.edu	37	chr19	49362194	49362200	+	Frame_Shift_Del	DEL	GGCGGGG	GGCGGGG	-													0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	agcctcagagggaggtcctcGgcggggagtagggggtcggg					rs200046215		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:49362194_49362200delGGCGGGG	ENST00000263265.6	-	8	1444_1450	c.889_895delCCCCGCC	c.(889-897)ccccgccgafs	p.PRR297fs	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Frame_Shift_Del_p.PRR297fs	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	297	Pro-rich.					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)		GGAGGTCCTCGGCGGGGAGTAGGGGGT	0.662																																						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.(889-897)gafs		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4																																				SO:0001589	frameshift_variant	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49362194_49362200delGGCGGGG	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.889_895delCCCCGCC	19.37:g.49362194_49362200delGGCGGGG	ENSP00000263265:p.Pro297fs		Somatic				PLEKHA4_ENST00000355496.5_Frame_Shift_Del_p.PRR297fs|PLEKHA4_ENST00000596713.1_5'UTR	p.PRR297fs	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)	8	1444_1450	-		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)	297			Pro-rich.		Q8N4M8|Q8N658	Frame_Shift_Del	DEL	ENST00000263265.6	37	c.889_895delCCCCGCC	CCDS12737.1																																																																																				0.662	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			29	103						29	103	---	---	---	---	-	49362200	GGCGGGG	-	49362194	7	5	52	1	0	1	0	1	0	0	0	0	12067	1124	39	0	1496	0	PLEKHA4	19	49362194	Frame_Shift_Del	DEL	GGCGGGG	TCGA-NF-A4X2-01A-11D-A28R-08	188187	49362194	9766789	107	9466										
PPP2R1A	5518	broad.mit.edu	37	chr19	52715982	52715982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	atgacacccccatggtgcggCgggccgcagcctccaagctg	13	16	0	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:52715982C>T	ENST00000322088.6	+	5	605	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128W|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4W	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R183W(22)|p.R183G(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CATGGTGCGGCGGGCCGCAGC	0.617			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		24	Substitution - Missense(24)	p.R183W(22)|p.R183G(2)	ovary(16)|endometrium(4)|large_intestine(3)|pancreas(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(547-549)Cgg>Tgg		protein phosphatase 2, regulatory subunit A, alpha							69	57	61					19																	52715982		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715982C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.547C>T	19.37:g.52715982C>T	ENSP00000324804:p.Arg183Trp		Somatic				PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128W|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4W	p.R183W	NM_014225.5	NP_055040.2	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	605	+			183			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.547C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360081	0.82353	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06528	3.29;3.29	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.114427	0.37136	N	0.002231	T	0.34193	0.0889	H	0.96333	3.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	T	0.40459	-0.9562	10	0.87932	D	0	-15.4468	10.2034	0.43099	0.1981:0.8019:0.0:0.0	.	128;183;183	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	W	173;103;183;128	ENSP00000324804:R183W;ENSP00000415067:R128W	ENSP00000324804:R183W	R	+	1	2	PPP2R1A	57407794	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.933000	0.63484	2.503000	0.84419	0.655000	0.94253	CGG		0.617	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		59	41	0	0	0	1	0	59	41					T	52715982	C	T	52715982	3	4	52	1	0	0	0	0	1	0	0	0	12394	759	27	1	565	1	PPP2R1A	19	52715982	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	3353788	52715982	6413001	108	9467										
ZNF749	388567	broad.mit.edu	37	chr19	57956698	57956698	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	aaagtccttttaagttaaggGaatgtgggaaagacttcaac	10	5	1	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:57956698G>T	ENST00000334181.4	+	3	2432	c.2182G>T	c.(2182-2184)Gaa>Taa	p.E728*	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	728					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)|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)		TAAGTTAAGGGAATGTGGGAA	0.403																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(2182-2184)Gaa>Taa		zinc finger protein 749							104	105	105					19																	57956698		2203	4300	6503	SO:0001587	stop_gained	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956698G>T	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.2182G>T	19.37:g.57956698G>T	ENSP00000333980:p.Glu728*		Somatic				AC004076.9_ENST00000596831.1_Intron	p.E728*	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	2432	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	728						Nonsense_Mutation	SNP	ENST00000334181.4	37	c.2182G>T	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	G	37	6.459382	0.97585	.	.	ENSG00000186230	ENST00000334181	.	.	.	1.39	0.106	0.14540	.	.	.	.	.	.	.	.	.	.	.	0.51767	D	0.999932	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	6.1938	0.20538	0.22:0.0:0.78:0.0	.	.	.	.	X	728	.	ENSP00000333980:E728X	E	+	1	0	ZNF749	62648510	0.000000	0.05858	0.002000	0.10522	0.661000	0.39034	-0.369000	0.07533	0.042000	0.15717	0.306000	0.20318	GAA		0.403	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		23	62	1	0	2.39556e-15	1	2.85857e-15	23	62					T	57956698	G	T	57956698	4	4	52	1	0	0	0	0	0	1	0	0	18146	1175	41	2	2192	2	ZNF749	19	57956698	Nonsense_Mutation	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	5240716	57956698	1172285	109	9468										
ESF1	51575	broad.mit.edu	37	chr20	13695536	13695537	+	Frame_Shift_Ins	INS	-	-	T													0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	ccagttatttgactttttgcINSttttttcttgcttgaaactg							TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr20:13695536_13695537insT	ENST00000202816.1	-	14	2647_2648	c.2540_2541insA	c.(2539-2541)aagfs	p.K847fs		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	847	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						TGACTTTTTGCTTTTTTCTTGC	0.302																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(2539-2541)acafs		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13695536_13695537insT		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.2541dupA	20.37:g.13695542_13695542dupT	ENSP00000202816:p.Lys847fs		Somatic					p.T847fs	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	WXS	Illumina GAIIx	Phase_I	Q9H501	ESF1_HUMAN			14	2647_2648	-			847			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Frame_Shift_Ins	INS	ENST00000202816.1	37	c.2540_2541insA	CCDS13117.1																																																																																				0.302	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		24	13						24	13	---	---	---	---	T	13695537	-	T	13695536	7	5	52	1	0	1	1	0	0	0	0	0	5253	796	28	0	18	0	ESF1	20	13695536	Frame_Shift_Ins	INS	-	TCGA-NF-A4X2-01A-11D-A28R-08		13695536	49329984	110	9469										
PROCR	10544	broad.mit.edu	37	chr20	33764024	33764024	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	agctgcctcccgagggctctAgagcccatgtcttcttcgaa	10	14	3	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr20:33764024A>G	ENST00000216968.4	+	3	458	c.376A>G	c.(376-378)Aga>Gga	p.R126G	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	126					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CGAGGGCTCTAGAGCCCATGT	0.607																																						ENST00000216968.4																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(376-378)Aga>Gga		protein C receptor, endothelial	Drotrecogin alfa(DB00055)						80	82	81					20																	33764024		2203	4300	6503	SO:0001583	missense	10544				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	g.chr20:33764024A>G	L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"CD molecules"	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.376A>G	20.37:g.33764024A>G	ENSP00000216968:p.Arg126Gly		Somatic				EDEM2_ENST00000540582.1_Intron	p.R126G	NM_006404.3	NP_006395.2	WXS	Illumina GAIIx	Phase_I	Q9UNN8	EPCR_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0152)		3	458	+			126					B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	ENST00000216968.4	37	c.376A>G	CCDS13248.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.421684	0.25639	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	T	0.00705	5.81	5.61	-2.64	0.06114	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.596660	0.03253	N	0.182147	T	0.00998	0.0033	L	0.51422	1.61	0.09310	N	1	B	0.24576	0.106	B	0.24155	0.051	T	0.48399	-0.9039	10	0.25751	T	0.34	-5.112	5.768	0.18237	0.2714:0.3107:0.4179:0.0	.	126	Q9UNN8	EPCR_HUMAN	G	126	ENSP00000216968:R126G	ENSP00000216968:R126G	R	+	1	2	PROCR	33227685	0.000000	0.05858	0.000000	0.03702	0.918000	0.54935	0.331000	0.19733	-0.410000	0.07542	0.459000	0.35465	AGA		0.607	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3			33	98	0	0	0	1	0	33	98					G	33764024	A	G	33764024	3	3	52	1	0	0	0	0	1	0	0	0	12559	412	15	4	386	4	PROCR	20	33764024	Missense_Mutation	SNP	A	TCGA-NF-A4X2-01A-11D-A28R-08	20068488	33764024	29261496	111	9470										
RNF160	26046	broad.mit.edu	37	chr21	30302792	30302799	+	Frame_Shift_Del	DEL	AGTGGACA	AGTGGACA	-													0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	agaaaaacgtctcacgacacAgtggacaagtggatttgttg							TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr21:30302792_30302799delAGTGGACA	ENST00000361371.5	-	30	5351_5358	c.5272_5279delTGTCCACT	c.(5272-5280)tgtccactgfs	p.CPL1758fs	LTN1_ENST00000389194.2_Frame_Shift_Del_p.CPL1804fs			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1758					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						CTCACGACACAGTGGACAAGTGGATTTG	0.361																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(5272-5280)gfs		listerin E3 ubiquitin protein ligase 1																																				SO:0001589	frameshift_variant	26046						ligase activity|zinc ion binding	g.chr21:30302792_30302799delAGTGGACA	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.5272_5279delTGTCCACT	21.37:g.30302792_30302799delAGTGGACA	ENSP00000354977:p.Cys1758fs		Somatic				LTN1_ENST00000389194.2_Frame_Shift_Del_p.CPL1804fs	p.CPL1758fs	NM_015565.2	NP_056380.2	WXS	Illumina GAIIx	Phase_I	O94822	LTN1_HUMAN			30	5422_5429	-			1758					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Frame_Shift_Del	DEL	ENST00000361371.5	37	c.5272_5279delTGTCCACT																																																																																					0.361	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		22	58						22	58	---	---	---	---	-	30302799	AGTGGACA	-	30302792	7	5	52	1	0	1	0	1	0	0	0	0	13470	188	7	0	25	0	RNF160	21	30302792	Frame_Shift_Del	DEL	AGTGGACA	TCGA-NF-A4X2-01A-11D-A28R-08		30302792	17827103	112	9471										
MED15	51586	broad.mit.edu	37	chr22	20918793	20918795	+	In_Frame_Del	DEL	CAG	CAG	-													0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	agcagcaacagcagcagttcCagcagcagcagcaggcggcg							TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr22:20918793_20918795delCAG	ENST00000263205.7	+	6	577_579	c.508_510delCAG	c.(508-510)cagdel	p.Q174del	MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	174	Poly-Gln.				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)			gcagcagttccagcagcagcagc	0.616											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(508-510)del		mediator complex subunit 15			,	5,56,4109		0,0,5,0,56,2024					,	3.4	1			20	7,128,7953		0,0,7,0,128,3909	no	codingComplex,codingComplex	MED15	NM_015889.3,NM_001003891.1	,	0,0,12,0,184,5933	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6691,1.4628,1.599	,	,		12,184,12062				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918793_20918795delCAG	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.508_510delCAG	22.37:g.20918802_20918804delCAG	ENSP00000263205:p.Gln174del		Somatic	OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000542773.1_5'UTR|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del	p.Q174del	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)		6	577_579	+	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)	174			Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.508_510delCAG	CCDS33602.1																																																																																				0.616	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		7	98						7	98	---	---	---	---	-	20918795	CAG	-	20918793	7	5	52	1	0	1	0	1	0	0	0	0	9442	595	21	0	530	0	MED15	22	20918793	In_Frame_Del	DEL	CAG	TCGA-NF-A4X2-01A-11D-A28R-08		20918793	30385773	113	9472										
TNRC6B	23112	broad.mit.edu	37	chr22	40711382	40711382	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tgtggaaaaaccatatttccTccaggaacactacaccgctg	7	12	0	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr22:40711382T>C	ENST00000454349.2	+	20	4985	c.4774T>C	c.(4774-4776)Tcc>Ccc	p.S1592P	TNRC6B_ENST00000301923.9_Missense_Mutation_p.S788P|TNRC6B_ENST00000402203.1_Missense_Mutation_p.S788P|TNRC6B_ENST00000335727.9_Missense_Mutation_p.S1482P	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1592	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						CCATATTTCCTCCAGGAACAC	0.537																																						ENST00000454349.2																			0				breast(1)	1						c.(4774-4776)Tcc>Ccc		trinucleotide repeat containing 6B							89	89	89					22																	40711382		1999	4151	6150	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40711382T>C	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.4774T>C	22.37:g.40711382T>C	ENSP00000401946:p.Ser1592Pro		Somatic				TNRC6B_ENST00000335727.8_Missense_Mutation_p.S1482P|TNRC6B_ENST00000301923.9_Missense_Mutation_p.S788P|TNRC6B_ENST00000402203.1_Missense_Mutation_p.S788P	p.S1592P	NM_001162501.1	NP_001155973.1	WXS	Illumina GAIIx	Phase_I	Q9UPQ9	TNR6B_HUMAN			20	4985	+			1592					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.4774T>C	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.546997	0.27652	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	6.16	6.16	0.99307	.	0.240302	0.44285	D	0.000463	T	0.50973	0.1647	L	0.28014	0.82	0.41565	D	0.988651	D;D;D;D	0.63046	0.99;0.967;0.981;0.992	D;D;D;D	0.73708	0.969;0.939;0.972;0.981	T	0.43669	-0.9377	10	0.02654	T	1	-7.4338	15.3771	0.74615	0.0:0.0:0.0:1.0	.	1592;1482;1482;788	Q9UPQ9;A8MYY3;Q9UPQ9-1;Q9UPQ9-2	TNR6B_HUMAN;.;.;.	P	788;788;1592;1482;1482	ENSP00000306759:S788P;ENSP00000384795:S788P;ENSP00000401946:S1592P;ENSP00000338371:S1482P	ENSP00000306759:S788P	S	+	1	0	TNRC6B	39041328	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.861000	0.48380	2.367000	0.80283	0.528000	0.53228	TCC		0.537	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				7	70	0	0	0	1	0	7	70					C	40711382	T	C	40711382	3	2	52	1	0	0	0	0	1	0	0	0	16356	1551	54	4	4973	4	TNRC6B	22	40711382	Missense_Mutation	SNP	T	TCGA-NF-A4X2-01A-11D-A28R-08	19792589	40711382	10593184	114	9473										
VCX	26609	broad.mit.edu	37	chrX	7811258	7811258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	gcggaagatgagtccaaagcCgagagcctcgggacctccgg	15	12	0	3	rs374403270		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:7811258C>T	ENST00000381059.3	+	2	233	c.14C>T	c.(13-15)cCg>cTg	p.P5L	VCX_ENST00000341408.4_Missense_Mutation_p.P5L	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	5					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)				AGTCCAAAGCCGAGAGCCTCG	0.622																																						ENST00000381059.3																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(13-15)cCg>cTg		variable charge, X-linked		C	LEU/PRO	0,3781		0,0,1623,535	30	29	29		14	-0.3	0	X		29	5,6566		0,5,2407,1747	no	missense	VCX	NM_013452.2	98	0,5,4030,2282	TT,TC,CC,C		0.0761,0.0,0.0483	probably-damaging	5/207	7811258	5,10347	2158	4159	6317	SO:0001583	missense	26609				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding	g.chrX:7811258C>T	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.14C>T	X.37:g.7811258C>T	ENSP00000370447:p.Pro5Leu		Somatic				VCX_ENST00000341408.4_Missense_Mutation_p.P5L	p.P5L	NM_013452.2	NP_038480.2	WXS	Illumina GAIIx	Phase_I	Q9H320	VCX1_HUMAN			2	233	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	5					A0JNS5|Q4V774|Q9P0H3	Missense_Mutation	SNP	ENST00000381059.3	37	c.14C>T	CCDS14128.1	.	.	.	.	.	.	.	.	.	.	-	3.925	-0.017436	0.07681	0.0	7.61E-4	ENSG00000182583	ENST00000381059;ENST00000341408	T;T	0.16597	2.33;2.33	0.167	-0.333	0.12671	.	.	.	.	.	T	0.07954	0.0199	N	0.19112	0.55	0.09310	N	1	D	0.60575	0.988	B	0.38683	0.279	T	0.21861	-1.0233	8	0.72032	D	0.01	.	.	.	.	.	5	Q9H320	VCX1_HUMAN	L	5	ENSP00000370447:P5L;ENSP00000344144:P5L	ENSP00000344144:P5L	P	+	2	0	VCX	7771258	0.006000	0.16342	0.001000	0.08648	0.001000	0.01503	-1.063000	0.03465	-0.978000	0.03533	-0.988000	0.02552	CCG		0.622	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071474.1	NM_013452		30	221	0	0	0	1	0	30	221					T	7811258	C	T	7811258	3	4	52	1	0	0	0	0	1	0	0	0	17157	652	23	1	16	1	VCX	23	7811258	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08		7811258	147459302	115	9474										
MAGEB6	158809	broad.mit.edu	37	chrX	26212812	26212812	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	agtggtgataatgcgctgccGaagtcgggtctcctgatgtc	14	9	1	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:26212812G>A	ENST00000379034.1	+	2	998	c.849G>A	c.(847-849)ccG>ccA	p.P283P		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	283	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATGCGCTGCCGAAGTCGGGTC	0.527																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(847-849)ccG>ccA		melanoma antigen family B, 6							139	128	132					X																	26212812		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212812G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.849G>A	X.37:g.26212812G>A			Somatic					p.P283P	NM_173523.2	NP_775794.2	WXS	Illumina GAIIx	Phase_I	Q8N7X4	MAGB6_HUMAN			2	998	+			283			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.849G>A	CCDS14217.1																																																																																				0.527	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		30	271	0	0	0	1	0	30	271					A	26212812	G	A	26212812	2	1	52	1	0	0	0	0	0	0	0	1	9188	1045	37	1		1	MAGEB6	23	26212812	Silent	SNP	G	TCGA-NF-A4X2-01A-11D-A28R-08	18401554	26212812	129057748	116	9475										
HDAC6	10013	broad.mit.edu	37	chrX	48673986	48673986	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tctccctgccctgcagtgccCaggcttcagtttcctgtgct	9	16	2	0			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:48673986C>A	ENST00000334136.5	+	16	1439	c.1261C>A	c.(1261-1263)Cag>Aag	p.Q421K	HDAC6_ENST00000376619.2_Missense_Mutation_p.Q421K|HDAC6_ENST00000444343.2_Missense_Mutation_p.Q435K			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	421					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)			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)	CTGCAGTGCCCAGGCTTCAGT	0.617																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			0				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.(1261-1263)Cag>Aag		histone deacetylase 6	Vorinostat(DB02546)						86	70	76					X																	48673986		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48673986C>A	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.1261C>A	X.37:g.48673986C>A	ENSP00000334061:p.Gln421Lys		Somatic				HDAC6_ENST00000376619.2_Missense_Mutation_p.Q421K|HDAC6_ENST00000444343.2_Missense_Mutation_p.Q435K	p.Q421K			WXS	Illumina GAIIx	Phase_I	Q9UBN7	HDAC6_HUMAN			16	1439	+			421					O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.1261C>A	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	C	1.907	-0.451617	0.04572	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.59224	0.28;0.29;0.29	5.5	3.7	0.42460	.	0.602490	0.15599	N	0.254002	T	0.36552	0.0971	L	0.31294	0.92	0.49389	D	0.999788	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.08055	0.003;0.003;0.003	T	0.15925	-1.0420	10	0.02654	T	1	-2.2791	6.0453	0.19755	0.3417:0.5692:0.0:0.0891	.	411;69;421	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	K	435;421;421;421	ENSP00000398566:Q435K;ENSP00000334061:Q421K;ENSP00000365804:Q421K	ENSP00000334061:Q421K	Q	+	1	0	HDAC6	48558930	0.538000	0.26394	0.657000	0.29651	0.351000	0.29236	0.542000	0.23222	0.572000	0.29383	-0.351000	0.07748	CAG		0.617	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		23	88	1	0	2.89027e-11	1	3.30982e-11	23	88					A	48673986	C	A	48673986	3	1	52	1	0	0	0	0	1	0	0	0	7020	595	21	5	1319	5	HDAC6	23	48673986	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	22461174	48673986	106596574	117	9476										
PPP1R3F	89801	broad.mit.edu	37	chrX	49142813	49142813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	cgccctggctgaggagatcaCgctgcactatgcccggctgg	14	14	1	2			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:49142813C>T	ENST00000055335.6	+	4	1677	c.1661C>T	c.(1660-1662)aCg>aTg	p.T554M	PPP1R3F_ENST00000438316.1_Missense_Mutation_p.T225M|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.T208M	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	554					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GAGGAGATCACGCTGCACTAT	0.647																																						ENST00000055335.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27						c.(1660-1662)aCg>aTg		protein phosphatase 1, regulatory subunit 3F							23	20	21					X																	49142813		2201	4295	6496	SO:0001583	missense	89801					integral to membrane		g.chrX:49142813C>T		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1661C>T	X.37:g.49142813C>T	ENSP00000055335:p.Thr554Met		Somatic				PPP1R3F_ENST00000438316.1_Missense_Mutation_p.T225M|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.T208M	p.T554M	NM_033215.4	NP_149992.3	WXS	Illumina GAIIx	Phase_I	Q6ZSY5	PPR3F_HUMAN			4	1677	+	Ovarian(276;0.236)		554					A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	c.1661C>T	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262676	0.59431	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.68181	0.14;0.14;-0.31;0.14;0.14	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000020	T	0.73426	0.3585	L	0.32530	0.975	0.35106	D	0.765732	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.81335	-0.0979	10	0.87932	D	0	-2.5422	13.5798	0.61896	0.0:1.0:0.0:0.0	.	225;239;554	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	M	208;225;554;208;208	ENSP00000420687:T208M;ENSP00000415548:T225M;ENSP00000055335:T554M;ENSP00000417535:T208M;ENSP00000365359:T208M	ENSP00000055335:T554M	T	+	2	0	PPP1R3F	49029757	0.978000	0.34361	0.942000	0.38095	0.911000	0.54048	3.950000	0.56676	2.272000	0.75746	0.513000	0.50165	ACG		0.647	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		38	15	0	0	0	1	0	38	15					T	49142813	C	T	49142813	3	4	52	1	0	0	0	0	1	0	0	0	12387	536	19	1	1675	1	PPP1R3F	23	49142813	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	468827	49142813	106127747	118	9477										
RGAG4	340526	broad.mit.edu	37	chrX	71350291	71350291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	tcatctcttgctgaaaagccCtcatgcgcttcctctggtcc	7	15	4	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:71350291C>A	ENST00000545866.1	-	1	1467	c.1100G>T	c.(1099-1101)aGg>aTg	p.R367M	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.R367M	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	367										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CTGAAAAGCCCTCATGCGCTT	0.488																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(1099-1101)aGg>aTg		retrotransposon gag domain containing 4							44	37	39					X																	71350291		2008	4162	6170	SO:0001583	missense	340526							g.chrX:71350291C>A	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.1100G>T	X.37:g.71350291C>A	ENSP00000441366:p.Arg367Met		Somatic				NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.R367M	p.R367M			WXS	Illumina GAIIx	Phase_I	Q5HYW3	RGAG4_HUMAN			1	1467	-	Renal(35;0.156)		367					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.1100G>T	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261320	0.39995	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.15952	2.38;2.38	4.13	1.3	0.21679	.	.	.	.	.	T	0.11452	0.0279	N	0.24115	0.695	0.09310	N	1	D	0.55172	0.97	B	0.44044	0.439	T	0.20806	-1.0264	8	.	.	.	-0.8425	6.8825	0.24181	0.0:0.5677:0.3302:0.1021	.	367	Q5HYW3	RGAG4_HUMAN	M	367	ENSP00000441366:R367M;ENSP00000418667:R367M	.	R	-	2	0	RGAG4	71267016	0.000000	0.05858	0.000000	0.03702	0.399000	0.30720	0.305000	0.19254	0.133000	0.18654	0.600000	0.82982	AGG		0.488	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		7	21	1	0	0.0293803	1	0.0300144	7	21					A	71350291	C	A	71350291	3	1	52	1	0	0	0	0	1	0	0	0	13290	681	24	5	613	5	RGAG4	23	71350291	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	22207478	71350291	83920269	119	9478										
SRPX2	27286	broad.mit.edu	37	chrX	99917215	99917215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	aaatatccaggatggagaagCcacatgctactcaccgaagg	10	10	1	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:99917215C>T	ENST00000373004.3	+	4	634	c.206C>T	c.(205-207)gCc>gTc	p.A69V		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	69	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GATGGAGAAGCCACATGCTAC	0.488																																						ENST00000373004.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(205-207)gCc>gTc		sushi-repeat containing protein, X-linked 2							97	81	87					X																	99917215		2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99917215C>T	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"sushi-repeat-containing protein, X-linked 2"			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.206C>T	X.37:g.99917215C>T	ENSP00000362095:p.Ala69Val		Somatic					p.A69V	NM_014467.2	NP_055282.1	WXS	Illumina GAIIx	Phase_I	O60687	SRPX2_HUMAN			4	634	+			69			Sushi 1.		B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.206C>T	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	C	7.213	0.595725	0.13875	.	.	ENSG00000102359	ENST00000373004	T	0.26223	1.75	5.07	4.2	0.49525	Complement control module (2);Sushi/SCR/CCP (2);	0.157982	0.56097	N	0.000025	T	0.13713	0.0332	N	0.10972	0.075	0.52099	D	0.999947	B	0.06786	0.001	B	0.15484	0.013	T	0.07462	-1.0771	9	.	.	.	-5.4584	12.8489	0.57846	0.0:0.9185:0.0:0.0815	.	69	O60687	SRPX2_HUMAN	V	69	ENSP00000362095:A69V	.	A	+	2	0	SRPX2	99803871	0.995000	0.38212	0.995000	0.50966	0.994000	0.84299	2.750000	0.47500	1.036000	0.39998	0.523000	0.50628	GCC		0.488	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		13	123	0	0	0	1	0	13	123					T	99917215	C	T	99917215	3	4	52	1	0	0	0	0	1	0	0	0	15180	739	26	3	216	3	SRPX2	23	99917215	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	28566924	99917215	55353345	120	9479										
TEX13B	56156	broad.mit.edu	37	chrX	107225158	107225158	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0330578512396694	4	1	0.583774675012037	1.13106343283582	0.393413367942894	1	1	0	aggccaggctgccccaggtgCaggcctctttgacctcgctg	13	15	1	1			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:107225158C>A	ENST00000302917.1	-	2	292	c.200G>T	c.(199-201)tGc>tTc	p.C67F		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	67										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GCCCCAGGTGCAGGCCTCTTT	0.592																																						ENST00000302917.1																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(199-201)tGc>tTc		testis expressed 13B							85	82	83					X																	107225158		2199	4300	6499	SO:0001583	missense	0							g.chrX:107225158C>A	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.200G>T	X.37:g.107225158C>A	ENSP00000303777:p.Cys67Phe		Somatic					p.C67F	NM_031273.2	NP_112563.1	WXS	Illumina GAIIx	Phase_I	Q9BXU2	TX13B_HUMAN			2	292	-			67					Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	c.200G>T	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644696	0.47258	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.28	3.28	0.37604	.	.	.	.	.	T	0.59824	0.2222	L	0.61036	1.89	0.29981	N	0.817735	D	0.69078	0.997	P	0.62298	0.9	T	0.57370	-0.7823	8	0.87932	D	0	.	9.1481	0.36946	0.0:1.0:0.0:0.0	.	67	Q9BXU2	TX13B_HUMAN	F	67	.	ENSP00000303777:C67F	C	-	2	0	TEX13B	107111814	0.992000	0.36948	0.735000	0.30896	0.023000	0.10783	1.892000	0.39748	1.895000	0.54865	0.523000	0.50628	TGC		0.592	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			165	18	1	0	9.28845e-81	1	1.21005e-80	165	18					A	107225158	C	A	107225158	3	1	52	1	0	0	0	0	1	0	0	0	15792	710	25	5	746	5	TEX13B	23	107225158	Missense_Mutation	SNP	C	TCGA-NF-A4X2-01A-11D-A28R-08	7307943	107225158	48045402	121	9480										
ARID1A	8289	broad.mit.edu	37	chr1	27057848	27057848	+	Frame_Shift_Del	DEL	C	C	-													0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	gtcctctcagcctccatactCccagcagccatcccagcctc							TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:27057848delC	ENST00000324856.7	+	3	1927	c.1556delC	c.(1555-1557)tccfs	p.S519fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S136fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S519fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	519					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)		CCTCCATACTCCCAGCAGCCA	0.632			"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.(1555-1557)tcfs		AT rich interactive domain 1A (SWI-like)							273	255	261					1																	27057848		2203	4300	6503	SO:0001589	frameshift_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.chr1:27057848delC	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.1556delC	1.37:g.27057848delC	ENSP00000320485:p.Ser519fs		Somatic				ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S136fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S519fs	p.S519fs	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	1927	+		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)	519					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.1556delC	CCDS285.1																																																																																				0.632	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		152	284						152	284	---	---	---	---	-	27057848	C	-	27057848	7	5	53	1	0	1	0	1	0	0	0	0	913	855	30	0	1566	0	ARID1A	1	27057848	Frame_Shift_Del	DEL	C	TCGA-NF-A5CP-01A-12D-A28R-08		27057848	222192773	1	9481										
ARID1A	8289	broad.mit.edu	37	chr1	27106527	27106528	+	Frame_Shift_Ins	INS	-	-	GAGT													0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	gggtgagctgcaacaaagtgINSgagtggtggtgggactgctt							TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:27106527_27106528insGAGT	ENST00000324856.7	+	20	6509_6510	c.6138_6139insGAGT	c.(6139-6141)gagfs	p.-2047fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.-375fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.-1664fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.-1830fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						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.E2047*(3)	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)		GCAACAAAGTGGAGTGGTGGTG	0.55			"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)	3	Substitution - Nonsense(3)	p.E2047*(3)	endometrium(2)|ovary(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(6136-6141)gtagtgfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_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.chr1:27106527_27106528insGAGT	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.6139_6142dupGAGT	1.37:g.27106528_27106531dupGAGT	ENSP00000320485:p.Glu2047fs		Somatic				ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.V1664fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.V375fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.V1830fs	p.V2047fs	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	6509_6510	+		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)	2047					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.6138_6139insGAGT	CCDS285.1																																																																																				0.55	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		41	84						41	84	---	---	---	---	GAGT	27106528	-	GAGT	27106527	7	5	53	1	0	1	1	0	0	0	0	0	913	1335	47	0	6216	0	ARID1A	1	27106527	Frame_Shift_Ins	INS	-	TCGA-NF-A5CP-01A-12D-A28R-08	48679	27106527	222144094	2	9482										
DENND2C	163259	broad.mit.edu	37	chr1	115143531	115143531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	atgacacttcgcatgaatggGtaaacaagggctggagacat	12	7	0	3			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:115143531G>A	ENST00000393274.1	-	14	2491	c.1866C>T	c.(1864-1866)taC>taT	p.Y622Y	DENND2C_ENST00000393277.1_Silent_p.Y622Y|DENND2C_ENST00000393276.3_Silent_p.Y565Y|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	622	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	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)		GCATGAATGGGTAAACAAGGG	0.418																																						ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(1864-1866)taC>taT		DENN/MADD domain containing 2C							119	116	117					1																	115143531		2203	4300	6503	SO:0001819	synonymous_variant	163259							g.chr1:115143531G>A		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1866C>T	1.37:g.115143531G>A			Somatic				DENND2C_ENST00000393277.1_Silent_p.Y622Y|DENND2C_ENST00000393276.3_Silent_p.Y565Y|DENND2C_ENST00000481894.1_5'UTR	p.Y622Y	NM_001256404.1	NP_001243333.1	WXS	Illumina GAIIx	Phase_I	Q68D51	DEN2C_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)	14	2491	-	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)	622			DENN.		B1AL26|Q5TCX6|Q6P3R3	Silent	SNP	ENST00000393274.1	37	c.1866C>T	CCDS58018.1																																																																																				0.418	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		24	43	0	0	0	1	0	24	43					A	115143531	G	A	115143531	2	1	53	1	0	0	0	0	0	0	0	1	4432	1256	44	3		3	DENND2C	1	115143531	Silent	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	88037004	115143531	134107090	3	9483										
NTRK1	4914	broad.mit.edu	37	chr1	156841545	156841545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	ctctgttcaggtcaacgtctCctgtgagtctcagtggcagc	11	12	5	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:156841545C>A	ENST00000524377.1	+	7	889	c.848C>A	c.(847-849)tCc>tAc	p.S283Y	NTRK1_ENST00000392302.2_Missense_Mutation_p.S253Y|NTRK1_ENST00000358660.3_Missense_Mutation_p.S283Y|NTRK1_ENST00000368196.3_Missense_Mutation_p.S283Y	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	283	Ig-like C2-type 1.				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)	GTCAACGTCTCCTGTGAGTCT	0.582			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.(847-849)tCc>tAc		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						93	79	84					1																	156841545		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156841545C>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.848C>A	1.37:g.156841545C>A	ENSP00000431418:p.Ser283Tyr	TSP Lung(10;0.080)	Somatic				NTRK1_ENST00000392302.2_Missense_Mutation_p.S253Y|NTRK1_ENST00000524377.1_Missense_Mutation_p.S283Y|NTRK1_ENST00000358660.3_Missense_Mutation_p.S283Y	p.S283Y	NM_001012331.1	NP_001012331.1	WXS	Illumina GAIIx	Phase_I	P04629	NTRK1_HUMAN			7	968	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		283			Ig-like C2-type 1.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.848C>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	8.515	0.867439	0.17250	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.21	5.21	0.72293	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.111674	0.40908	D	0.000985	T	0.13543	0.0328	L	0.39633	1.23	0.33582	D	0.600026	P;P;D;D	0.89917	0.519;0.901;1.0;1.0	B;B;D;D	0.97110	0.238;0.418;1.0;0.99	T	0.03043	-1.1079	10	0.02654	T	1	.	10.9728	0.47448	0.0:0.9148:0.0:0.0852	.	283;283;283;253	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	Y	253;283;283;283	ENSP00000376120:S253Y;ENSP00000357179:S283Y;ENSP00000431418:S283Y;ENSP00000351486:S283Y	ENSP00000351486:S283Y	S	+	2	0	NTRK1	155108169	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.763000	0.47605	2.698000	0.92095	0.655000	0.94253	TCC		0.582	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		9	72	1	0	3.07112e-06	1	3.24967e-06	9	72					A	156841545	C	A	156841545	3	1	53	1	0	0	0	0	1	0	0	0	10715	855	30	2	1004	2	NTRK1	1	156841545	Missense_Mutation	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08	41698014	156841545	92409076	4	9484										
LYST	1130	broad.mit.edu	37	chr1	235969411	235969411	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	atctccctccttttttccttGctcctctttgtgacttctga	4	14	3	2			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:235969411G>C	ENST00000389794.3	-	6	3199	c.3025C>G	c.(3025-3027)Caa>Gaa	p.Q1009E	LYST_ENST00000536965.1_Missense_Mutation_p.Q1009E|LYST_ENST00000389793.2_Missense_Mutation_p.Q1009E			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1009					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)			TTTTTTCCTTGCTCCTCTTTG	0.348																																						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.(3025-3027)Caa>Gaa		lysosomal trafficking regulator							84	93	90					1																	235969411		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.chr1:235969411G>C	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.3025C>G	1.37:g.235969411G>C	ENSP00000374444:p.Gln1009Glu		Somatic				LYST_ENST00000536965.1_Missense_Mutation_p.Q1009E|LYST_ENST00000389793.2_Missense_Mutation_p.Q1009E	p.Q1009E			WXS	Illumina GAIIx	Phase_I	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	3199	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1009					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.3025C>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	4.289	0.052844	0.08291	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.61392	0.11;0.11;1.23	5.04	4.09	0.47781	.	0.346270	0.30126	N	0.010346	T	0.40570	0.1122	L	0.36672	1.1	0.09310	N	1	B;P	0.35174	0.141;0.488	B;B	0.26693	0.072;0.051	T	0.22347	-1.0219	10	0.15066	T	0.55	.	12.7465	0.57283	0.0:0.1641:0.8359:0.0	.	1009;1009	Q99698-3;Q99698	.;LYST_HUMAN	E	1009	ENSP00000374444:Q1009E;ENSP00000374443:Q1009E;ENSP00000438315:Q1009E	ENSP00000374443:Q1009E	Q	-	1	0	LYST	234036034	0.977000	0.34250	0.028000	0.17463	0.957000	0.61999	2.324000	0.43831	2.614000	0.88457	0.563000	0.77884	CAA		0.348	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			36	50	0	0	0	1	0	36	50					C	235969411	G	C	235969411	3	2	53	1	0	0	0	0	1	0	0	0	9137	1328	46	5	8572	5	LYST	1	235969411	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	79127866	235969411	13281210	5	9485										
OR2B11	127623	broad.mit.edu	37	chr1	247614475	247614475	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	aatttgccctgctcttgggaGtagctggaagggggctgcag	16	8	1	0			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:247614475G>A	ENST00000318749.6	-	1	833	c.810C>T	c.(808-810)taC>taT	p.Y270Y		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCTCTTGGGAGTAGCTGGAAG	0.493																																						ENST00000318749.6																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(808-810)taC>taT		olfactory receptor, family 2, subfamily B, member 11							151	157	155					1																	247614475		2203	4300	6503	SO:0001819	synonymous_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614475G>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.810C>T	1.37:g.247614475G>A			Somatic					p.Y270Y	NM_001004492.1	NP_001004492.1	WXS	Illumina GAIIx	Phase_I	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	833	-	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)	270					B2RP03	Silent	SNP	ENST00000318749.6	37	c.810C>T	CCDS31090.1																																																																																				0.493	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		15	176	0	0	0	1	0	15	176					A	247614475	G	A	247614475	2	1	53	1	0	0	0	0	0	0	0	1	10997	1024	36	3		3	OR2B11	1	247614475	Silent	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	11645064	247614475	1636146	6	9486										
FAM161A	84140	broad.mit.edu	37	chr2	62067002	62067002	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	agctgtgtcctaaggtttcgAtagagctcttcttcttttaa	8	8	3	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:62067002A>G	ENST00000405894.3	-	3	1238	c.1137T>C	c.(1135-1137)taT>taC	p.Y379Y	FAM161A_ENST00000404929.1_Silent_p.Y379Y	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	379					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TAAGGTTTCGATAGAGCTCTT	0.433																																						ENST00000404929.1																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1135-1137)taT>taC		family with sequence similarity 161, member A							101	103	102					2																	62067002		1931	4135	6066	SO:0001819	synonymous_variant	84140				response to stimulus|visual perception	centrosome		g.chr2:62067002A>G		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"retinitis pigmentosa 28 (autosomal recessive)"	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1137T>C	2.37:g.62067002A>G			Somatic				FAM161A_ENST00000405894.3_Silent_p.Y379Y	p.Y379Y	NM_001201543.1	NP_001188472.1	WXS	Illumina GAIIx	Phase_I	Q3B820	F161A_HUMAN			3	1148	-			379					B4DJV7|Q9H8R2	Silent	SNP	ENST00000405894.3	37	c.1137T>C	CCDS42687.2																																																																																				0.433	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		51	42	0	0	0	1	0	51	42					G	62067002	A	G	62067002	2	3	53	1	0	0	0	0	0	0	0	1	5477	340	12	4		4	FAM161A	2	62067002	Silent	SNP	A	TCGA-NF-A5CP-01A-12D-A28R-08		62067002	181132371	7	9487										
UGGT1	56886	broad.mit.edu	37	chr2	128938646	128938646	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	ctgtttgtggatgctgatcaGgtaggcccttaaaggccaag	13	8	1	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:128938646G>C	ENST00000259253.6	+	36	4130	c.4083G>C	c.(4081-4083)caG>caC	p.Q1361H	UGGT1_ENST00000375990.3_Splice_Site_p.Q1337H	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1361	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATGCTGATCAGGTAGGCCCTT	0.378																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.e36+1		UDP-glucose glycoprotein glucosyltransferase 1							161	150	153					2																	128938646		2203	4300	6503	SO:0001630	splice_region_variant	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.chr2:128938646G>C	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4083+1G>C	2.37:g.128938646G>C			Somatic				UGGT1_ENST00000259253.6_Splice_Site_p.Q1361_splice	p.Q1337_splice			WXS	Illumina GAIIx	Phase_I	Q9NYU2	UGGG1_HUMAN			36	4414	+			1361			Glucosyltransferase (By similarity).		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Splice_Site	SNP	ENST00000259253.6	37	c.4011_splice	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170830	0.78452	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.22134	1.97;1.97	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73199	-0.4058	9	.	.	.	.	13.945	0.64080	0.073:0.0:0.927:0.0	.	1361	Q9NYU2	UGGG1_HUMAN	H	1337;1361	ENSP00000365158:Q1337H;ENSP00000259253:Q1361H	.	Q	+	3	2	UGGT1	128655116	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.605000	0.82844	2.734000	0.93682	0.585000	0.79938	CAG		0.378	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	Missense_Mutation	29	43	0	0	0	1	0	29	43					C	128938646	G	C	128938646	5	2	53	1	0	0	0	0	0	0	1	0	16956	1014	35	5	4225	5	UGGT1	2	128938646	Splice_Site	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	66871644	128938646	114260727	8	9488										
FIGN	55137	broad.mit.edu	37	chr2	164467497	164467497	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	tggtggggggtaggggggtgGgagcaggaattcctgaaggc	23	4	0	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:164467497G>T	ENST00000333129.3	-	3	1159	c.845C>A	c.(844-846)cCc>cAc	p.P282H	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	282	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TAGGGGGGTGGGAGCAGGAAT	0.602																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(844-846)cCc>cAc		fidgetin							38	42	41					2																	164467497		2006	4145	6151	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467497G>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.845C>A	2.37:g.164467497G>T	ENSP00000333836:p.Pro282His		Somatic				FIGN_ENST00000409634.1_Intron	p.P282H	NM_018086.2	NP_060556.2	WXS	Illumina GAIIx	Phase_I	Q5HY92	FIGN_HUMAN			3	1159	-			282			Pro-rich.		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.845C>A	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914093	0.72983	.	.	ENSG00000182263	ENST00000333129	D	0.94000	-3.33	5.94	5.94	0.96194	.	0.127292	0.53938	D	0.000043	D	0.95784	0.8628	M	0.61703	1.905	0.80722	D	1	D	0.67145	0.996	P	0.60012	0.867	D	0.95374	0.8467	10	0.62326	D	0.03	-14.3921	20.3666	0.98879	0.0:0.0:1.0:0.0	.	282	Q5HY92	FIGN_HUMAN	H	282	ENSP00000333836:P282H	ENSP00000333836:P282H	P	-	2	0	FIGN	164175743	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	9.824000	0.99380	2.814000	0.96858	0.563000	0.77884	CCC		0.602	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		32	38	1	0	2.80507e-11	1	3.07544e-11	32	38					T	164467497	G	T	164467497	3	4	53	1	0	0	0	0	1	0	0	0	5899	1232	43	5	1438	5	FIGN	2	164467497	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	35528851	164467497	78731876	9	9489										
LRP2	4036	broad.mit.edu	37	chr2	169995843	169995843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	aattgccagagctccaattaCgacgatcaagaggattgtca	9	9	2	2			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:169995843C>T	ENST00000263816.3	-	74	13591	c.13306G>A	c.(13306-13308)Gta>Ata	p.V4436I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4436					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)"	GCTCCAATTACGACGATCAAG	0.507																																						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.(13306-13308)Gta>Ata		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)						68	69	68					2																	169995843		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.chr2:169995843C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13306G>A	2.37:g.169995843C>T	ENSP00000263816:p.Val4436Ile		Somatic					p.V4436I	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)	74	13591	-			4436					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.13306G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	8.716	0.913188	0.17907	.	.	ENSG00000081479	ENST00000263816	D	0.89123	-2.47	5.53	1.53	0.23141	.	0.095285	0.64402	N	0.000003	T	0.68659	0.3025	N	0.04508	-0.205	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.58819	-0.7569	10	0.05721	T	0.95	.	7.2797	0.26304	0.0:0.2052:0.122:0.6728	.	4436	P98164	LRP2_HUMAN	I	4436	ENSP00000263816:V4436I	ENSP00000263816:V4436I	V	-	1	0	LRP2	169704089	0.996000	0.38824	0.890000	0.34922	0.797000	0.45037	0.525000	0.22956	0.400000	0.25396	-1.298000	0.01336	GTA		0.507	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		6	73	0	0	0	1	0	6	73					T	169995843	C	T	169995843	3	4	53	1	0	0	0	0	1	0	0	0	8965	536	19	1	685	1	LRP2	2	169995843	Missense_Mutation	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08	5528346	169995843	73203530	10	9490										
ABCA12	26154	broad.mit.edu	37	chr2	215815735	215815735	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	ccactctcaactcttaatctCtcagcccgcacatcttcatc	2	18	6	0			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:215815735C>G	ENST00000272895.7	-	45	6939	c.6720G>C	c.(6718-6720)gaG>gaC	p.E2240D	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.E1922D	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2240					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCTTAATCTCTCAGCCCGCA	0.383																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(6718-6720)gaG>gaC		ATP-binding cassette, sub-family A (ABC1), member 12							232	227	229					2																	215815735		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215815735C>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6720G>C	2.37:g.215815735C>G	ENSP00000272895:p.Glu2240Asp		Somatic				AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.E1922D	p.E2240D	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)	45	6939	-		Renal(323;0.127)	2240					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.6720G>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277046	0.59758	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.93659	-3.26;-3.2	5.61	1.33	0.21861	.	0.264539	0.32719	N	0.005738	D	0.96778	0.8948	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.993;1.0	D	0.95899	0.8913	10	0.87932	D	0	.	10.1939	0.43043	0.0:0.5735:0.0:0.4265	.	2240;1922	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	D	2240;1922	ENSP00000272895:E2240D;ENSP00000374312:E1922D	ENSP00000272895:E2240D	E	-	3	2	ABCA12	215523980	0.989000	0.36119	0.995000	0.50966	0.734000	0.41952	0.274000	0.18680	0.340000	0.23745	0.555000	0.69702	GAG		0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		81	93	0	0	0	1	0	81	93					G	215815735	C	G	215815735	3	3	53	1	0	0	0	0	1	0	0	0	30	912	32	2	1103	2	ABCA12	2	215815735	Missense_Mutation	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08	45819892	215815735	27383638	11	9491										
OBSL1	23363	broad.mit.edu	37	chr2	220421348	220421348	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	ttgcgcagccaggtgacatcGgcatctggtggggagacttc	15	10	1	2			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:220421348G>A	ENST00000404537.1	-	13	4220	c.4164C>T	c.(4162-4164)gcC>gcT	p.A1388A	OBSL1_ENST00000265317.5_Silent_p.A287A|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000373876.1_Silent_p.A1296A|OBSL1_ENST00000603926.1_Silent_p.A1388A|OBSL1_ENST00000265318.4_Silent_p.A1296A	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1388	Ig-like 12.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGGTGACATCGGCATCTGGTG	0.617																																						ENST00000404537.1																			0											c.(4162-4164)gcC>gcT		obscurin-like 1							56	61	59					2																	220421348		2158	4253	6411	SO:0001819	synonymous_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220421348G>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4164C>T	2.37:g.220421348G>A			Somatic				OBSL1_ENST00000265317.5_Silent_p.A287A|OBSL1_ENST00000373876.1_Silent_p.A1296A|OBSL1_ENST00000265318.4_Silent_p.A1296A|OBSL1_ENST00000603926.1_Silent_p.A1388A	p.A1388A	NM_015311.2	NP_056126.1	WXS	Illumina GAIIx	Phase_I	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	13	4220	-		Renal(207;0.0376)	1388			Ig-like 12.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	c.4164C>T	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	G	0.700	-0.791219	0.02884	.	.	ENSG00000124006	ENST00000456147	.	.	.	4.36	-1.23	0.09465	.	.	.	.	.	T	0.19927	0.0479	.	.	.	0.24768	N	0.992885	.	.	.	.	.	.	T	0.24728	-1.0152	4	.	.	.	.	1.5804	0.02633	0.3808:0.2447:0.2594:0.1151	.	.	.	.	L	290	.	.	P	-	2	0	OBSL1	220129592	0.000000	0.05858	0.044000	0.18714	0.130000	0.20726	-1.539000	0.02202	-0.116000	0.11893	-0.333000	0.08304	CCG		0.617	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			24	56	0	0	0	1	0	24	56					A	220421348	G	A	220421348	2	1	53	1	0	0	0	0	0	0	0	1	10822	1103	39	1		1	OBSL1	2	220421348	Silent	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	4605613	220421348	22778025	12	9492										
MRPL44	65080	broad.mit.edu	37	chr2	224831613	224831613	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	attgcagaaggacctggggaAacagtattggttgcagaaga	14	5	0	3			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:224831613A>G	ENST00000258383.3	+	4	930	c.861A>G	c.(859-861)gaA>gaG	p.E287E	AC073641.2_ENST00000425192.1_RNA	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	287	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GACCTGGGGAAACAGTATTGG	0.403																																						ENST00000258383.3																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(859-861)gaA>gaG		mitochondrial ribosomal protein L44							114	128	123					2																	224831613		2203	4300	6503	SO:0001819	synonymous_variant	65080				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity	g.chr2:224831613A>G	AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"Mitochondrial ribosomal proteins / large subunits"	16650	protein-coding gene	gene with protein product	"39S ribosomal protein L44, mitochondrial"	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.861A>G	2.37:g.224831613A>G			Somatic				AC073641.2_ENST00000425192.1_RNA	p.E287E	NM_022915.3	NP_075066.1	WXS	Illumina GAIIx	Phase_I	Q9H9J2	RM44_HUMAN		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)	4	930	+		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)	287			DRBM.		Q53S16|Q6IA62|Q9H821	Silent	SNP	ENST00000258383.3	37	c.861A>G	CCDS2459.1																																																																																				0.403	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915		40	105	0	0	0	1	0	40	105					G	224831613	A	G	224831613	2	3	53	1	0	0	0	0	0	0	0	1	9817	11	1	4		4	MRPL44	2	224831613	Silent	SNP	A	TCGA-NF-A5CP-01A-12D-A28R-08	4410265	224831613	18367760	13	9493										
PTPN23	25930	broad.mit.edu	37	chr3	47451557	47451557	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	ctgacatggtggctggcccaCgactgcctgacaccttcctg	11	15	0	2			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:47451557C>T	ENST00000265562.4	+	20	2346	c.2269C>T	c.(2269-2271)Cga>Tga	p.R757*	PTPN23_ENST00000431726.1_Nonsense_Mutation_p.R631*	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	757	Pro-rich.				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)		GGCTGGCCCACGACTGCCTGA	0.677																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(2269-2271)Cga>Tga		protein tyrosine phosphatase, non-receptor type 23							40	37	38					3																	47451557		2203	4297	6500	SO:0001587	stop_gained	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47451557C>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.2269C>T	3.37:g.47451557C>T	ENSP00000265562:p.Arg757*		Somatic				PTPN23_ENST00000431726.1_Nonsense_Mutation_p.R631*	p.R757*	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)	20	2346	+			757			Pro-rich.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Nonsense_Mutation	SNP	ENST00000265562.4	37	c.2269C>T	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290010	0.80914	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	.	.	.	3.33	2.31	0.28768	.	0.372789	0.23658	N	0.045844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-15.7271	9.5485	0.39295	0.0:0.8664:0.0:0.1336	.	.	.	.	X	722;757	.	ENSP00000265562:R757X	R	+	1	2	PTPN23	47426561	0.859000	0.29813	0.862000	0.33874	0.336000	0.28762	1.889000	0.39718	1.691000	0.51100	0.455000	0.32223	CGA		0.677	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		3	14	0	0	0	1	0	3	14					T	47451557	C	T	47451557	4	4	53	1	0	0	0	0	0	1	0	0	12803	528	19	1	2347	1	PTPN23	3	47451557	Nonsense_Mutation	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08		47451557	150570873	14	9494										
ARHGAP31	57514	broad.mit.edu	37	chr3	119013766	119013766	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	taactcatgaagaacaagggTgctaagcagaagctgaaacg	11	7	1	4			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:119013766T>A	ENST00000264245.4	+	1	547	c.15T>A	c.(13-15)ggT>ggA	p.G5G		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	5					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						AGAACAAGGGTGCTAAGCAGA	0.587																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(13-15)ggT>ggA		Rho GTPase activating protein 31							96	107	104					3																	119013766		2016	4168	6184	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119013766T>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.15T>A	3.37:g.119013766T>A			Somatic					p.G5G	NM_020754.2	NP_065805.2	WXS	Illumina GAIIx	Phase_I	Q2M1Z3	RHG31_HUMAN			1	547	+			5					Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.15T>A	CCDS43135.1																																																																																				0.587	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			9	80	0	0	0	1	0	9	80					A	119013766	T	A	119013766	2	1	53	1	0	0	0	0	0	0	0	1	880	1683	59	4		4	ARHGAP31	3	119013766	Silent	SNP	T	TCGA-NF-A5CP-01A-12D-A28R-08	71562209	119013766	79008664	15	9495										
PIK3CA	5290	broad.mit.edu	37	chr3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	aattgaaccagtaggcaaccGtgaagaaaagatcctcaatc	8	9	1	4			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:178916936G>A	ENST00000263967.3	+	2	480	c.323G>A	c.(322-324)cGt>cAt	p.R108H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	108					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTAGGCAACCGTGAAGAAAAG	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		19	Substitution - Missense(14)|Deletion - In frame(5)	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)	endometrium(7)|large_intestine(5)|lung(4)|breast(2)|central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(322-324)cGt>cAt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							87	82	84					3																	178916936		1822	4071	5893	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916936G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.323G>A	3.37:g.178916936G>A	ENSP00000263967:p.Arg108His	HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.R108H	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)		2	480	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		108			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.323G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677294	0.88445	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74209	0.8;-0.82	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.84808	0.5554	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.83714	0.0189	9	.	.	.	-11.9048	19.4271	0.94746	0.0:0.0:1.0:0.0	.	108	P42336	PK3CA_HUMAN	H	108	ENSP00000263967:R108H;ENSP00000417479:R108H	.	R	+	2	0	PIK3CA	180399630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.630000	0.83225	2.584000	0.87258	0.555000	0.69702	CGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			58	37	0	0	0	1	0	58	37					A	178916936	G	A	178916936	3	1	53	1	0	0	0	0	1	0	0	0	11922	1145	40	1	325	1	PIK3CA	3	178916936	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	59903170	178916936	19105494	16	9496										
SEC31A	22872	broad.mit.edu	37	chr4	83793139	83793139	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	gaagtggagaggaagcaaatCgaagatcccacatctggatc	12	8	1	2			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr4:83793139C>A	ENST00000395310.2	-	7	922	c.740G>T	c.(739-741)cGa>cTa	p.R247L	SEC31A_ENST00000508502.1_Missense_Mutation_p.R247L|SEC31A_ENST00000513858.1_Missense_Mutation_p.R247L|SEC31A_ENST00000326950.5_Missense_Mutation_p.R247L|SEC31A_ENST00000509142.1_Missense_Mutation_p.R247L|SEC31A_ENST00000505984.1_Missense_Mutation_p.R247L|SEC31A_ENST00000348405.4_Missense_Mutation_p.R247L|SEC31A_ENST00000443462.2_Missense_Mutation_p.R242L|SEC31A_ENST00000448323.1_Missense_Mutation_p.R247L|SEC31A_ENST00000508479.1_Missense_Mutation_p.R247L|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000355196.2_Missense_Mutation_p.R247L|SEC31A_ENST00000311785.7_Missense_Mutation_p.R247L|SEC31A_ENST00000505472.1_Missense_Mutation_p.R247L|SEC31A_ENST00000500777.2_Missense_Mutation_p.R247L|SEC31A_ENST00000432794.1_Missense_Mutation_p.R247L|SEC31A_ENST00000264405.5_5'Flank	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)	247	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)				GGAAGCAAATCGAAGATCCCA	0.473																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(739-741)cGa>cTa		SEC31 homolog A (S. cerevisiae)							126	98	107					4																	83793139		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.chr4:83793139C>A	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.740G>T	4.37:g.83793139C>A	ENSP00000378721:p.Arg247Leu		Somatic				SEC31A_ENST00000311785.7_Missense_Mutation_p.R247L|SEC31A_ENST00000443462.2_Missense_Mutation_p.R242L|SEC31A_ENST00000508479.1_Missense_Mutation_p.R247L|SEC31A_ENST00000513858.1_Missense_Mutation_p.R247L|SEC31A_ENST00000509142.1_Missense_Mutation_p.R247L|SEC31A_ENST00000508502.1_Missense_Mutation_p.R247L|SEC31A_ENST00000505984.1_Missense_Mutation_p.R247L|SEC31A_ENST00000395310.2_Missense_Mutation_p.R247L|SEC31A_ENST00000505472.1_Missense_Mutation_p.R247L|SEC31A_ENST00000500777.2_Missense_Mutation_p.R247L|SEC31A_ENST00000448323.1_Missense_Mutation_p.R247L|SEC31A_ENST00000355196.2_Missense_Mutation_p.R247L|SEC31A_ENST00000348405.4_Missense_Mutation_p.R247L|SEC31A_ENST00000326950.5_Missense_Mutation_p.R247L|SEC31A_ENST00000436790.2_5'UTR	p.R247L			WXS	Illumina GAIIx	Phase_I	O94979	SC31A_HUMAN			7	903	-		Hepatocellular(203;0.114)	247			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.740G>T	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	C	36	5.640253	0.96693	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000505984;ENST00000508479;ENST00000503058	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67171	1.64;1.64;1.64;1.38;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;-0.25	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.058713	0.64402	D	0.000002	D	0.87063	0.6084	M	0.94021	3.485	0.80722	D	1	P;P;D;P;D;D;D;P;D	0.76494	0.947;0.954;0.973;0.895;0.998;0.965;0.999;0.852;0.971	P;P;P;P;D;D;D;P;P	0.75020	0.85;0.726;0.69;0.617;0.985;0.979;0.984;0.663;0.895	D	0.89888	0.4035	10	0.87932	D	0	-4.6315	19.718	0.96131	0.0:1.0:0.0:0.0	.	242;247;247;247;247;247;247;247;247	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979	.;.;.;.;.;.;.;.;SC31A_HUMAN	L	247;247;247;242;247;247;247;247;247;247;247;247;247;247;247;218	ENSP00000337602:R247L;ENSP00000426886:R247L;ENSP00000378721:R247L;ENSP00000408027:R242L;ENSP00000426569:R247L;ENSP00000407944:R247L;ENSP00000400926:R247L;ENSP00000325087:R247L;ENSP00000309070:R247L;ENSP00000421633:R247L;ENSP00000421464:R247L;ENSP00000424635:R247L;ENSP00000347329:R247L;ENSP00000424451:R247L;ENSP00000425999:R247L;ENSP00000425056:R218L	ENSP00000309070:R247L	R	-	2	0	SEC31A	84012163	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.814000	0.86154	2.645000	0.89757	0.585000	0.79938	CGA		0.473	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		44	14	1	0	1.32136e-16	1	1.46638e-16	44	14					A	83793139	C	A	83793139	3	1	53	1	0	0	0	0	1	0	0	0	14013	884	31	2	3006	2	SEC31A	4	83793139	Missense_Mutation	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08		83793139	107361137	17	9497										
DMP1	1758	broad.mit.edu	37	chr4	88584263	88584263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	gctcagcagagagtcagagcGaggaaagccattctgaggaa	14	8	3	3			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr4:88584263G>A	ENST00000339673.6	+	6	1432	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	DMP1_ENST00000282479.7_Missense_Mutation_p.E429K|RP11-742B18.1_ENST00000506814.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	445					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GAGTCAGAGCGAGGAAAGCCA	0.542																																						ENST00000339673.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32						c.(1333-1335)Gag>Aag		dentin matrix acidic phosphoprotein 1							70	65	66					4																	88584263		2203	4300	6503	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88584263G>A	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"dentin matrix acidic phosphoprotein"			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.1333G>A	4.37:g.88584263G>A	ENSP00000340935:p.Glu445Lys		Somatic				RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.E429K	p.E445K	NM_004407.3	NP_004398.1	WXS	Illumina GAIIx	Phase_I	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	6	1432	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	445					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.1333G>A	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	G	9.257	1.042249	0.19748	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.44482	0.92;0.92	5.62	-0.673	0.11373	.	1.142780	0.06457	N	0.728746	T	0.34629	0.0904	L	0.45352	1.415	0.09310	N	1	B;B	0.18863	0.025;0.031	B;B	0.17722	0.007;0.019	T	0.35475	-0.9787	10	0.51188	T	0.08	0.2844	7.5567	0.27829	0.2321:0.4626:0.3053:0.0	.	429;445	Q13316-2;Q13316	.;DMP1_HUMAN	K	445;429	ENSP00000340935:E445K;ENSP00000282479:E429K	ENSP00000282479:E429K	E	+	1	0	DMP1	88803287	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-0.039000	0.12124	-0.263000	0.09378	0.467000	0.42956	GAG		0.542	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			70	17	0	0	0	1	0	70	17					A	88584263	G	A	88584263	3	1	53	1	0	0	0	0	1	0	0	0	4585	1059	37	1	1351	1	DMP1	4	88584263	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	4791124	88584263	102570013	18	9498										
DSP	1832	broad.mit.edu	37	chr6	7580595	7580595	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	ggaagaggataccagtggctAccgggctcagatagacaatc	13	9	1	3			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:7580595A>G	ENST00000379802.3	+	23	4513	c.4172A>G	c.(4171-4173)tAc>tGc	p.Y1391C	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1391	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACCAGTGGCTACCGGGCTCAG	0.463																																						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.(4171-4173)tAc>tGc		desmoplakin							92	93	93					6																	7580595		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.chr6:7580595A>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.4172A>G	6.37:g.7580595A>G	ENSP00000369129:p.Tyr1391Cys		Somatic				DSP_ENST00000418664.2_Intron	p.Y1391C	NM_004415.2	NP_004406.2	WXS	Illumina GAIIx	Phase_I	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4513	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1391			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.4172A>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.307682	0.23821	.	.	ENSG00000096696	ENST00000379802	D	0.91295	-2.82	5.65	3.15	0.36227	.	0.226336	0.31290	N	0.007910	T	0.72684	0.3491	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65286	-0.6205	10	0.41790	T	0.15	.	10.0721	0.42339	0.6113:0.0:0.0:0.3887	.	1391	P15924	DESP_HUMAN	C	1391	ENSP00000369129:Y1391C	ENSP00000369129:Y1391C	Y	+	2	0	DSP	7525594	0.995000	0.38212	1.000000	0.80357	0.532000	0.34746	1.792000	0.38754	0.374000	0.24650	-0.327000	0.08410	TAC		0.463	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		46	79	0	0	0	1	0	46	79					G	7580595	A	G	7580595	3	3	53	1	0	0	0	0	1	0	0	0	4783	391	14	4	4262	4	DSP	6	7580595	Missense_Mutation	SNP	A	TCGA-NF-A5CP-01A-12D-A28R-08		7580595	163534472	19	9499										
ZFP57	4340	broad.mit.edu	37	chr6	29641083	29641083	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	tttgagctcagactggtcccGgaagctcttcccacacacag	9	14	2	2			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:29641083G>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376883.1_Missense_Mutation_p.R249W|ZFP57_ENST00000488757.1_Missense_Mutation_p.R269W|ZFP57_ENST00000376881.3_Missense_Mutation_p.R249W	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GACTGGTCCCGGAAGCTCTTC	0.557																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(745-747)Cgg>Tgg		ZFP57 zinc finger protein							117	126	123					6																	29641083		1306	2579	3885	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641083G>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641083G>A			Somatic				ZFP57_ENST00000376881.3_Missense_Mutation_p.R249W|ZFP57_ENST00000488757.1_Missense_Mutation_p.R269W	p.R249W			WXS	Illumina GAIIx	Phase_I	Q9NU63	ZFP57_HUMAN			6	1156	-			185					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.745C>T	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316037	0.60524	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.54071	0.59;0.59;0.59	4.64	1.76	0.24704	.	0.000000	0.43919	D	0.000516	T	0.46698	0.1406	L	0.50847	1.595	0.21604	N	0.999622	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.984	T	0.27365	-1.0076	10	0.72032	D	0.01	-30.4224	5.7424	0.18102	0.0933:0.0:0.3979:0.5087	.	269;249	Q9NU63-3;Q9NU63-2	.;.	W	269;249;249	ENSP00000418259:R269W;ENSP00000366078:R249W;ENSP00000366080:R249W	ENSP00000366078:R249W	R	-	1	2	ZFP57	29749062	0.000000	0.05858	0.996000	0.52242	0.968000	0.65278	-0.431000	0.06965	0.625000	0.30304	0.563000	0.77884	CGG		0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		40	83	0	0	0	1	0	40	83					A	29641083	G	A	29641083	1	1	53	0	1	0	0	0	0	0	0	0	17666	1115	39	1		1	ZFP57	6	29641083	IGR	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	22060488	29641083	141473984	20	9500										
C2	717	broad.mit.edu	37	chr6	31913052	31913052	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	tagcaaggtcccgccgccacGagactttcacatcaatctct	7	15	3	1	rs147553278		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:31913052G>C	ENST00000299367.5	+	18	2453	c.2177G>C	c.(2176-2178)cGa>cCa	p.R726P	CFB_ENST00000425368.2_5'Flank|CFB_ENST00000456570.1_Intron|C2_ENST00000469372.1_Missense_Mutation_p.R480P|CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.R512P|CFB_ENST00000556679.1_Intron|C2_ENST00000468407.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.R594P	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	726	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CCGCCGCCACGAGACTTTCAC	0.587																																						ENST00000299367.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27						c.(2176-2178)cGa>cCa		complement component 2							79	84	82					6																	31913052		1511	2709	4220	SO:0001583	missense	717							g.chr6:31913052G>C		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.2177G>C	6.37:g.31913052G>C	ENSP00000299367:p.Arg726Pro		Somatic				CFB_ENST00000556679.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.R594P|CFB_ENST00000456570.1_Intron|C2_ENST00000468407.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.R512P|CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Missense_Mutation_p.R480P	p.R726P	NM_000063.4	NP_000054.2	WXS	Illumina GAIIx	Phase_I				LUAD - Lung adenocarcinoma(999;0.247)	18	2453	+		Ovarian(999;0.00965)						B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.2177G>C	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.70|18.70	3.680148|3.680148	0.68042|0.68042	.|.	.|.	ENSG00000166278|ENSG00000166278	ENST00000383177|ENST00000469372;ENST00000452323;ENST00000299367;ENST00000442278	.|T;T;T;T	.|0.19250	.|2.16;2.16;2.16;2.16	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	.|0.000000	.|0.32093	.|N	.|0.006582	T|T	0.44644|0.44644	0.1303|0.1303	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0;1.0	T|T	0.48269|0.48269	-0.9050|-0.9050	5|10	.|0.87932	.|D	.|0	-8.7253|-8.7253	17.0642|17.0642	0.86555|0.86555	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|697;512;480;594;594;726	.|B4DV48;B4DPF3;B4DQI1;E9PFN7;B4DV20;P06681	.|.;.;.;.;.;CO2_HUMAN	Q|P	500|480;512;726;594	.|ENSP00000418923:R480P;ENSP00000392322:R512P;ENSP00000299367:R726P;ENSP00000395683:R594P	.|ENSP00000299367:R726P	E|R	+|+	1|2	0|0	C2|C2	32021031|32021031	0.706000|0.706000	0.27856|0.27856	0.905000|0.905000	0.35620|0.35620	0.349000|0.349000	0.29174|0.29174	4.489000|4.489000	0.60309|0.60309	2.633000|2.633000	0.89246|0.89246	0.467000|0.467000	0.42956|0.42956	GAG|CGA		0.587	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			26	61	0	0	0	1	0	26	61					C	31913052	G	C	31913052	3	2	53	1	0	0	0	0	1	0	0	0	2076	1058	37	2	2324	2	C2	6	31913052	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	2271969	31913052	139202015	21	9501										
HLA-DQA1	3117	broad.mit.edu	37	chr6	32609250	32609250	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	aaatttggaggttttgacccGcagggtgcactgagaaacat	12	7	0	2			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:32609250G>A	ENST00000343139.5	+	2	348	c.246G>A	c.(244-246)ccG>ccA	p.P82P	HLA-DQA1_ENST00000395363.1_Silent_p.P82P|HLA-DQA1_ENST00000374949.2_Silent_p.P82P	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	81	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)|membrane (GO:0016020)|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)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GTTTTGACCCGCAGGGTGCAC	0.502																																						ENST00000343139.5																			0				NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(244-246)ccG>ccA		major histocompatibility complex, class II, DQ alpha 1							87	78	81					6																	32609250		2142	4105	6247	SO:0001819	synonymous_variant	3117				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.chr6:32609250G>A		CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.246G>A	6.37:g.32609250G>A			Somatic				HLA-DQA1_ENST00000395363.1_Silent_p.P82P|HLA-DQA1_ENST00000374949.2_Silent_p.P82P	p.P82P	NM_002122.3	NP_002113.2	WXS	Illumina GAIIx	Phase_I	P01909	DQA1_HUMAN			2	348	+			81			Alpha-1.		O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Silent	SNP	ENST00000343139.5	37	c.246G>A	CCDS4752.1	.	.	.	.	.	.	.	.	.	.	.	3.320	-0.138855	0.06669	.	.	ENSG00000196735	ENST00000486548	.	.	.	3.97	-7.95	0.01148	.	.	.	.	.	T	0.16981	0.0408	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.38714	-0.9648	4	.	.	.	.	1.466	0.02406	0.4654:0.0976:0.1596:0.2774	.	.	.	.	H	55	.	.	R	+	2	0	HLA-DQA1	32717228	0.014000	0.17966	0.124000	0.21820	0.001000	0.01503	-1.610000	0.02064	-1.841000	0.01183	-2.644000	0.00150	CGC		0.502	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		20	13	0	0	0	1	0	20	13					A	32609250	G	A	32609250	2	1	53	1	0	0	0	0	0	0	0	1	7213	1074	38	1		1	HLA-DQA1	6	32609250	Silent	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	696198	32609250	138505817	22	9502										
PHF1	5252	broad.mit.edu	37	chr6	33383699	33383699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	catccccaggtcttcctagaCgctcagcacccccttctccc	5	21	3	1	rs368864667		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:33383699C>T	ENST00000374516.3	+	15	1799	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C	CUTA_ENST00000492510.1_5'Flank|PHF1_ENST00000374512.3_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	510					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCTTCCTAGACGCTCAGCACC	0.592																																						ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1528-1530)Cgc>Tgc		PHD finger protein 1		C	,CYS/ARG	0,4406		0,0,2203	101	93	96		,1528	3.7	1	6		96	1,8597	1.2+/-3.3	0,1,4298	no	utr-3,missense	PHF1	NM_002636.4,NM_024165.2	,180	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,possibly-damaging	,510/568	33383699	1,13003	2203	4299	6502	SO:0001583	missense	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33383699C>T	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1528C>T	6.37:g.33383699C>T	ENSP00000363640:p.Arg510Cys		Somatic				PHF1_ENST00000374512.3_3'UTR	p.R510C	NM_024165.2	NP_077084.1	WXS	Illumina GAIIx	Phase_I	O43189	PHF1_HUMAN			15	1799	+		Ovarian(999;0.0443)	510					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	c.1528C>T	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344177	0.61073	0.0	1.16E-4	ENSG00000112511	ENST00000374516;ENST00000427826	T	0.24538	1.85	4.69	3.74	0.42951	.	0.657801	0.12327	N	0.478735	T	0.04634	0.0126	N	0.14661	0.345	0.32256	N	0.570755	P	0.44260	0.83	B	0.30495	0.116	T	0.14811	-1.0459	9	.	.	.	-3.6308	9.1453	0.36928	0.2335:0.7665:0.0:0.0	.	510	O43189	PHF1_HUMAN	C	510;124	ENSP00000363640:R510C	.	R	+	1	0	PHF1	33491677	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.391000	0.34475	2.446000	0.82766	0.655000	0.94253	CGC		0.592	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			48	92	0	0	0	1	0	48	92					T	33383699	C	T	33383699	3	4	53	1	0	0	0	0	1	0	0	0	11829	536	19	1	1582	1	PHF1	6	33383699	Missense_Mutation	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08	774449	33383699	137731368	23	9503										
GPR63	81491	broad.mit.edu	37	chr6	97246772	97246772	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	tgaggcatataccttcagggTagctatggatcctcaaggca	11	9	2	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:97246772T>A	ENST00000229955.3	-	2	1181	c.836A>T	c.(835-837)tAc>tTc	p.Y279F	GPR63_ENST00000417980.1_Missense_Mutation_p.Y279F	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		ACCTTCAGGGTAGCTATGGAT	0.468																																						ENST00000229955.3																			0				kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(835-837)tAc>tTc		G protein-coupled receptor 63							94	92	93					6																	97246772		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246772T>A	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"GPCR / Class A : Orphans"	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.836A>T	6.37:g.97246772T>A	ENSP00000229955:p.Tyr279Phe		Somatic				GPR63_ENST00000417980.1_Missense_Mutation_p.Y279F	p.Y279F	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	WXS	Illumina GAIIx	Phase_I	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	2	1181	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	279					Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.836A>T	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.755426	0.49362	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.71817	-0.6;-0.6;-0.6	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.066277	0.64402	D	0.000018	T	0.35364	0.0929	N	0.12182	0.205	0.40107	D	0.976448	P	0.41546	0.754	B	0.39258	0.295	T	0.44236	-0.9341	10	0.10111	T	0.7	-11.6644	15.3582	0.74443	0.0:0.0:0.0:1.0	.	279	Q9BZJ6	GPR63_HUMAN	F	303;279;279;279	ENSP00000393170:Y279F;ENSP00000229955:Y279F;ENSP00000358273:Y279F	ENSP00000229955:Y279F	Y	-	2	0	GPR63	97353493	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.655000	0.83696	2.097000	0.63578	0.528000	0.53228	TAC		0.468	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			19	64	0	0	0	1	0	19	64					A	97246772	T	A	97246772	3	1	53	1	0	0	0	0	1	0	0	0	6712	1638	57	4	427	4	GPR63	6	97246772	Missense_Mutation	SNP	T	TCGA-NF-A5CP-01A-12D-A28R-08	63863073	97246772	73868295	24	9504										
SLC22A3	6581	broad.mit.edu	37	chr6	160858039	160858039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	gttgctacaggttcacaagcGcagtggtgtatcaaggactt	12	8	2	0			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:160858039G>A	ENST00000275300.2	+	7	1236	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T	SLC22A3_ENST00000392145.1_Missense_Mutation_p.A362T	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	362					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)	GTTCACAAGCGCAGTGGTGTA	0.448																																						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.(1084-1086)Gca>Aca		solute carrier family 22 (organic cation transporter), member 3							105	112	110					6																	160858039		2203	4300	6503	SO:0001583	missense	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160858039G>A	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"Solute carriers"	10967	protein-coding gene	gene with protein product		604842	"solute carrier family 22 (extraneuronal monoamine transporter), member 3"			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1084G>A	6.37:g.160858039G>A	ENSP00000275300:p.Ala362Thr		Somatic				SLC22A3_ENST00000275300.2_Missense_Mutation_p.A362T	p.A362T			WXS	Illumina GAIIx	Phase_I	O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	7	1111	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	362					Q5SYN6|Q9UP02	Missense_Mutation	SNP	ENST00000275300.2	37	c.1084G>A	CCDS5277.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374959	0.61735	.	.	ENSG00000146477	ENST00000275300;ENST00000392145	T;T	0.58940	0.3;0.3	5.61	5.61	0.85477	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	L	0.42744	1.35	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.60161	-0.7317	10	0.40728	T	0.16	.	17.8105	0.88614	0.0:0.0:1.0:0.0	.	362	O75751	S22A3_HUMAN	T	362	ENSP00000275300:A362T;ENSP00000375989:A362T	ENSP00000275300:A362T	A	+	1	0	SLC22A3	160778029	1.000000	0.71417	0.222000	0.23844	0.561000	0.35649	7.031000	0.76491	2.639000	0.89480	0.655000	0.94253	GCA		0.448	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		10	102	0	0	0	1	0	10	102					A	160858039	G	A	160858039	3	1	53	1	0	0	0	0	1	0	0	0	14470	1087	38	1	1110	1	SLC22A3	6	160858039	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	63611267	160858039	10257028	25	9505										
GCK	2645	broad.mit.edu	37	chr7	44185169	44185169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	gtcctcgctgcggctctcgcGcatgcggttgatgacgcccg	14	15	1	2			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:44185169G>A	ENST00000403799.3	-	9	1649	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C	GCK_ENST00000395796.3_Missense_Mutation_p.R393C|GCK_ENST00000437084.1_Missense_Mutation_p.R377C|GCK_ENST00000345378.2_Missense_Mutation_p.R395C	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	394	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CGGCTCTCGCGCATGCGGTTG	0.692																																						ENST00000403799.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						c.(1180-1182)Cgc>Tgc		glucokinase (hexokinase 4)							23	24	24					7																	44185169		2201	4299	6500	SO:0001583	missense	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44185169G>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"maturity onset diabetes of the young 2"	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.1180C>T	7.37:g.44185169G>A	ENSP00000384247:p.Arg394Cys		Somatic				GCK_ENST00000395796.3_Missense_Mutation_p.R393C|GCK_ENST00000437084.1_Missense_Mutation_p.R377C|GCK_ENST00000345378.2_Missense_Mutation_p.R395C	p.R394C	NM_000162.3	NP_000153.1	WXS	Illumina GAIIx	Phase_I	P35557	HXK4_HUMAN			9	1649	-			394					A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	ENST00000403799.3	37	c.1180C>T	CCDS5479.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550935	0.86127	.	.	ENSG00000106633	ENST00000336642;ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8;-4.8	5.59	3.6	0.41247	Hexokinase, C-terminal (1);	0.055203	0.64402	D	0.000002	D	0.98839	0.9608	M	0.86651	2.83	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;P;D;D;D	0.69142	0.932;0.907;0.916;0.962;0.932	D	0.98583	1.0651	10	0.87932	D	0	-38.7371	14.5126	0.67797	0.0:0.0:0.7386:0.2614	.	394;395;393;377;394	P35557;P35557-2;P35557-3;C9JQD1;A7LFL1	HXK4_HUMAN;.;.;.;.	C	78;394;393;395;377	ENSP00000338009:R78C;ENSP00000384247:R394C;ENSP00000379142:R393C;ENSP00000223366:R395C;ENSP00000402840:R377C	ENSP00000338009:R78C	R	-	1	0	GCK	44151694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.866000	0.39489	2.622000	0.88805	0.561000	0.74099	CGC		0.692	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			9	20	0	0	0	1	0	9	20					A	44185169	G	A	44185169	3	1	53	1	0	0	0	0	1	0	0	0	6301	1087	38	1	225	1	GCK	7	44185169	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08		44185169	114953494	26	9506										
GRM3	2913	broad.mit.edu	37	chr7	86468552	86468552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	gactacatcaggtgggaagaCgcctgggccattggcccagt	14	11	1	1	rs372193050		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:86468552C>T	ENST00000361669.2	+	4	2821	c.1722C>T	c.(1720-1722)gaC>gaT	p.D574D	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Silent_p.D446D|GRM3_ENST00000546348.1_Silent_p.D166D|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	574					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GGTGGGAAGACGCCTGGGCCA	0.498																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(1720-1722)gaC>gaT		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)	C		1,4405	2.1+/-5.4	0,1,2202	102	98	100		1722	-3	1	7		100	0,8600		0,0,4300	no	coding-synonymous	GRM3	NM_000840.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		574/880	86468552	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	integral to plasma membrane		g.chr7:86468552C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1722C>T	7.37:g.86468552C>T			Somatic				GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.D166D|GRM3_ENST00000536043.1_Silent_p.D446D|GRM3_ENST00000439827.1_Intron	p.D574D	NM_000840.2	NP_000831.2	WXS	Illumina GAIIx	Phase_I	Q14832	GRM3_HUMAN			4	2821	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		574					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.1722C>T	CCDS5600.1																																																																																				0.498	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			36	57	0	0	0	1	0	36	57					T	86468552	C	T	86468552	2	4	53	1	0	0	0	0	0	0	0	1	6807	535	19	1		1	GRM3	7	86468552	Silent	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08	42283383	86468552	72670111	27	9507										
HTR5A	3361	broad.mit.edu	37	chr7	154863078	154863078	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	cgctccgcacccgcaagtgcGtctccaacgtcatgatcgcg	10	17	2	1	rs191160373	byFrequency	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:154863078G>A	ENST00000287907.2	+	1	1045	c.469G>A	c.(469-471)Gtc>Atc	p.V157I	HTR5A-AS1_ENST00000395731.2_De_novo_Start_InFrame|HTR5A-AS1_ENST00000543018.1_De_novo_Start_InFrame|HTR5A-AS1_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	157					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CCGCAAGTGCGTCTCCAACGT	0.622													G|||	4	0.000798722	0	0	5008	,	,		19174	0.004		0	False		,,,				2504	0					ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(469-471)Gtc>Atc		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	102	74	84		469	-2.1	0	7		84	0,8600		0,0,4300	yes	missense	HTR5A	NM_024012.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	157/358	154863078	1,13005	2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863078G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.469G>A	7.37:g.154863078G>A	ENSP00000287907:p.Val157Ile		Somatic				AC093726.4_ENST00000543018.1_De_novo_Start_InFrame|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_De_novo_Start_InFrame	p.V157I	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	1045	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	157					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.469G>A	CCDS5936.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	2.047	-0.418576	0.04766	2.27E-4	0.0	ENSG00000157219	ENST00000287907	T	0.38560	1.13	4.75	-2.06	0.07298	GPCR, rhodopsin-like superfamily (1);	0.275476	0.39909	N	0.001224	T	0.22551	0.0544	N	0.20483	0.58	0.24015	N	0.996165	B	0.09022	0.002	B	0.08055	0.003	T	0.19128	-1.0315	10	0.19147	T	0.46	.	11.5903	0.50941	0.692:0.0:0.308:0.0	.	157	P47898	5HT5A_HUMAN	I	157	ENSP00000287907:V157I	ENSP00000287907:V157I	V	+	1	0	HTR5A	154494011	0.998000	0.40836	0.003000	0.11579	0.099000	0.18886	1.459000	0.35234	-0.570000	0.06022	-0.797000	0.03246	GTC		0.622	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		35	67	0	0	0	1	0	35	67					A	154863078	G	A	154863078	3	1	53	1	0	0	0	0	1	0	0	0	7459	1145	40	1	471	1	HTR5A	7	154863078	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	68394526	154863078	4275585	28	9508										
RP1L1	94137	broad.mit.edu	37	chr8	10470756	10470756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	ctgccaggagcagggcccacCggggggttgctaggaccagg	18	12	0	0	rs370410297		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:10470756C>T	ENST00000382483.3	-	4	1075	c.852G>A	c.(850-852)ccG>ccA	p.P284P		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	284					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)		CAGGGCCCACCGGGGGGTTGC	0.662																																						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.(850-852)ccG>ccA		retinitis pigmentosa 1-like 1		C		0,3916		0,0,1958	57	63	61		852	1.6	0	8		61	1,8273		0,1,4136	no	coding-synonymous	RP1L1	NM_178857.5		0,1,6094	TT,TC,CC		0.0121,0.0,0.0082		284/2401	10470756	1,12189	1958	4137	6095	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10470756C>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.852G>A	8.37:g.10470756C>T			Somatic					p.P284P	NM_178857.5	NP_849188.4	WXS	Illumina GAIIx	Phase_I	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1075	-			284					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.852G>A	CCDS43708.1																																																																																				0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			7	71	0	0	0	1	0	7	71					T	10470756	C	T	10470756	2	4	53	1	0	0	0	0	0	0	0	1	13548	639	23	1		1	RP1L1	8	10470756	Silent	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08		10470756	135893266	29	9509										
VPS13B	157680	broad.mit.edu	37	chr8	100865978	100865978	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	gggagaaaaagcagaacccaTtcagtgttccaaaatgcaga	10	8	1	3			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:100865978T>G	ENST00000358544.2	+	56	10547	c.10436T>G	c.(10435-10437)aTt>aGt	p.I3479S	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.I3454S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3479					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)			GCAGAACCCATTCAGTGTTCC	0.418																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(10435-10437)aTt>aGt		vacuolar protein sorting 13 homolog B (yeast)							92	90	91					8																	100865978		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100865978T>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.10436T>G	8.37:g.100865978T>G	ENSP00000351346:p.Ile3479Ser		Somatic				VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.I3454S	p.I3479S	NM_017890.4	NP_060360.3	WXS	Illumina GAIIx	Phase_I	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	10547	+	Breast(36;3.73e-07)		3479					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.10436T>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	0.709	-0.787812	0.02884	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.66815	-0.23;-0.23	5.26	-1.04	0.10068	.	2.042920	0.02046	N	0.049657	T	0.39572	0.1083	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42085	-0.9472	10	0.07030	T	0.85	.	12.4587	0.55718	0.0:0.4671:0.0:0.5329	.	3454;3479	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	S	3454;3479	ENSP00000349685:I3454S;ENSP00000351346:I3479S	ENSP00000349685:I3454S	I	+	2	0	VPS13B	100935154	.	.	0.001000	0.08648	0.427000	0.31564	.	.	-0.113000	0.11958	0.528000	0.53228	ATT		0.418	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		241	33	0	0	0	1	0	241	33					G	100865978	T	G	100865978	3	3	53	1	0	0	0	0	1	0	0	0	17205	1493	52	4	10848	4	VPS13B	8	100865978	Missense_Mutation	SNP	T	TCGA-NF-A5CP-01A-12D-A28R-08	90395222	100865978	45498044	30	9510										
RIMS2	9699	broad.mit.edu	37	chr8	104955062	104955062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	acattggtacaaacttcagaCgcatgatgtctcttcattgc	7	10	3	2			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:104955062C>T	ENST00000436393.2	+	12	2184	c.1943C>T	c.(1942-1944)aCg>aTg	p.T648M	RIMS2_ENST00000406091.3_Missense_Mutation_p.T870M|RIMS2_ENST00000507740.1_Missense_Mutation_p.T662M|RIMS2_ENST00000262231.10_Missense_Mutation_p.T709M			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	932					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)			AAACTTCAGACGCATGATGTC	0.418										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.(1984-1986)aCg>aTg		regulating synaptic membrane exocytosis 2							81	75	77					8																	104955062		1889	4117	6006	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104955062C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1943C>T	8.37:g.104955062C>T	ENSP00000390665:p.Thr648Met	HNSCC(12;0.0054)	Somatic				RIMS2_ENST00000406091.3_Missense_Mutation_p.T870M|RIMS2_ENST00000436393.2_Missense_Mutation_p.T648M|RIMS2_ENST00000262231.10_Missense_Mutation_p.T709M	p.T662M	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)		11	2221	+			932					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.1985C>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.059626	0.76074	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.17	5.17	0.71159	C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.87947	0.6306	M	0.72894	2.215	0.80722	D	1	P;D;D;P;P;P	0.89917	0.929;0.957;1.0;0.81;0.807;0.841	P;P;D;B;B;P	0.85130	0.46;0.585;0.997;0.331;0.377;0.475	D	0.89008	0.3426	9	0.87932	D	0	.	19.0411	0.92999	0.0:1.0:0.0:0.0	.	932;932;648;709;662;870	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	M	870;885;870;932;662;709;662;662;648	ENSP00000427018:T870M;ENSP00000384892:T870M;ENSP00000425205:T662M;ENSP00000262231:T709M;ENSP00000423559:T662M;ENSP00000386228:T662M;ENSP00000390665:T648M	ENSP00000262231:T709M	T	+	2	0	RIMS2	105024238	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.914000	0.69964	2.552000	0.86080	0.591000	0.81541	ACG		0.418	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		15	77	0	0	0	1	0	15	77					T	104955062	C	T	104955062	3	4	53	1	0	0	0	0	1	0	0	0	13383	536	19	1	2789	1	RIMS2	8	104955062	Missense_Mutation	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08	4089084	104955062	41408960	31	9511										
EFR3A	23167	broad.mit.edu	37	chr8	132980594	132980594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	tctaggacaccttgatgctcGtaaaaaagatgctccccggg	10	11	1	2	rs148528328		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:132980594G>A	ENST00000254624.5	+	9	1133	c.908G>A	c.(907-909)cGt>cAt	p.R303H	EFR3A_ENST00000519656.1_Missense_Mutation_p.R267H|EFR3A_ENST00000334503.4_Missense_Mutation_p.R303H	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	303						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CTTGATGCTCGTAAAAAAGAT	0.428																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(907-909)cGt>cAt		EFR3 homolog A (S. cerevisiae)		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	107	94	98		908	4.6	1	8	dbSNP_134	98	0,8600		0,0,4300	no	missense	EFR3A	NM_015137.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	303/822	132980594	1,13005	2203	4300	6503	SO:0001583	missense	23167					plasma membrane	binding	g.chr8:132980594G>A	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.908G>A	8.37:g.132980594G>A	ENSP00000254624:p.Arg303His		Somatic				EFR3A_ENST00000334503.4_Missense_Mutation_p.R303H|EFR3A_ENST00000519656.1_Missense_Mutation_p.R267H	p.R303H	NM_015137.4	NP_055952.2	WXS	Illumina GAIIx	Phase_I	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		9	1133	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		303					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	c.908G>A	CCDS34942.2	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157962	0.38119	2.27E-4	0.0	ENSG00000132294	ENST00000254624;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T	0.44881	0.91;0.91;0.91	5.51	4.64	0.57946	Armadillo-like helical (1);Armadillo-type fold (1);	0.439122	0.26442	N	0.024356	T	0.13457	0.0326	N	0.00538	-1.39	0.29481	N	0.856361	B	0.02656	0.0	B	0.04013	0.001	T	0.09862	-1.0655	10	0.28530	T	0.3	-0.2608	9.6938	0.40145	0.1572:0.0:0.8428:0.0	.	303	Q14156	EFR3A_HUMAN	H	303;303;303;267	ENSP00000254624:R303H;ENSP00000334769:R303H;ENSP00000428086:R267H	ENSP00000254624:R303H	R	+	2	0	EFR3A	133049776	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	7.046000	0.76592	1.323000	0.45263	-0.136000	0.14681	CGT		0.428	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		18	66	0	0	0	1	0	18	66					A	132980594	G	A	132980594	3	1	53	1	0	0	0	0	1	0	0	0	4960	1145	40	1	942	1	EFR3A	8	132980594	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	28025532	132980594	13383428	32	9512										
POMT1	10585	broad.mit.edu	37	chr9	134385763	134385763	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	gtcttccgctctgggccccaCgaccaaatcatgtccagtgc	9	16	3	0	rs191404622	byFrequency	TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr9:134385763C>T	ENST00000372228.3	+	9	1061	c.882C>T	c.(880-882)caC>caT	p.H294H	POMT1_ENST00000402686.3_Silent_p.H272H|POMT1_ENST00000354713.4_Silent_p.H242H|POMT1_ENST00000341012.7_Silent_p.H218H|POMT1_ENST00000541219.1_Silent_p.H50H|POMT1_ENST00000404875.2_Silent_p.H155H|POMT1_ENST00000419118.2_Silent_p.H120H|POMT1_ENST00000423007.1_Silent_p.H272H	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	294					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)		CTGGGCCCCACGACCAAATCA	0.542													C|||	2	0.000399361	0	0	5008	,	,		18437	0.002		0	False		,,,				2504	0					ENST00000423007.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31						c.(814-816)caC>caT		protein-O-mannosyltransferase 1		C	,,,,	0,4406		0,0,2203	103	79	87		816,654,816,465,882	-0.6	1	9		87	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	TT,TC,CC		0.0116,0.0,0.0077	,,,,	272/726,218/672,272/726,155/609,294/748	134385763	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.chr9:134385763C>T	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.882C>T	9.37:g.134385763C>T			Somatic				POMT1_ENST00000402686.3_Silent_p.H272H|POMT1_ENST00000404875.2_Silent_p.H155H|POMT1_ENST00000541219.1_Silent_p.H50H|POMT1_ENST00000354713.4_Silent_p.H242H|POMT1_ENST00000419118.2_Silent_p.H120H|POMT1_ENST00000372228.3_Silent_p.H294H|POMT1_ENST00000341012.7_Silent_p.H218H	p.H272H	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)	9	1258	+		Myeloproliferative disorder(178;0.204)	294					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	c.816C>T	CCDS6943.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	38	6.983790	0.97983	0.0	1.16E-4	ENSG00000130714	ENST00000372221;ENST00000415075	.	.	.	5.39	-0.644	0.11479	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-20.9745	9.0879	0.36592	0.0:0.2601:0.0:0.7399	.	.	.	.	X	70	.	ENSP00000361295:R70X	R	+	1	2	POMT1	133375584	0.043000	0.20138	0.998000	0.56505	0.983000	0.72400	-0.773000	0.04689	-0.023000	0.13963	0.561000	0.74099	CGA		0.542	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		22	29	0	0	0	1	0	22	29					T	134385763	C	T	134385763	2	4	53	1	0	0	0	0	0	0	0	1	12254	535	19	1		1	POMT1	9	134385763	Silent	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08		134385763	6827668	33	9513										
KIAA1279	26128	broad.mit.edu	37	chr10	70748846	70748846	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	gtggtggagcccgaggggccCgtcgcccagcgagcggtgag	20	12	0	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:70748846C>G	ENST00000361983.4	+	1	360	c.258C>G	c.(256-258)ccC>ccG	p.P86P		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	86					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CCGAGGGGCCCGTCGCCCAGC	0.721																																						ENST00000361983.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						c.(256-258)ccC>ccG		KIAA1279							19	23	22					10																	70748846		2200	4296	6496	SO:0001819	synonymous_variant	26128				cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding	g.chr10:70748846C>G	BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.258C>G	10.37:g.70748846C>G			Somatic					p.P86P	NM_015634.3	NP_056449.1	WXS	Illumina GAIIx	Phase_I	Q96EK5	KBP_HUMAN			1	360	+			86					A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Silent	SNP	ENST00000361983.4	37	c.258C>G	CCDS7284.1																																																																																				0.721	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634		4	65	0	0	0	1	0	4	65					G	70748846	C	G	70748846	2	3	53	1	0	0	0	0	0	0	0	1	8230	639	23	5		5	KIAA1279	10	70748846	Silent	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08		70748846	64785901	34	9514										
PTEN	5728	broad.mit.edu	37	chr10	89624296	89624296	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	aagaggatggattcgacttaGacttgacctgtatccatttc	9	8	0	3			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:89624296G>C	ENST00000371953.3	+	1	1427	c.70G>C	c.(70-72)Gac>Cac	p.D24H	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	24	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.?(13)|p.D24Y(4)|p.D24N(2)|p.D24fs*20(2)|p.D24_L25del(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)		ATTCGACTTAGACTTGACCTG	0.463		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)|Unknown(13)|Substitution - Missense(6)|Insertion - Frameshift(2)|Deletion - In frame(1)	p.0?(37)|p.?(13)|p.D24Y(4)|p.D24N(2)|p.D24fs*20(2)|p.D24_L25del(1)	prostate(14)|central_nervous_system(12)|skin(7)|lung(6)|ovary(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|large_intestine(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM993669	PTEN	M		c.(70-72)Gac>Cac		phosphatase and tensin homolog							167	158	161					10																	89624296		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.chr10:89624296G>C	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.70G>C	10.37:g.89624296G>C	ENSP00000361021:p.Asp24His	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic					p.D24H	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)	1	1427	+		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)	24			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.70G>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528747	0.85706	.	.	ENSG00000171862	ENST00000371953	D	0.98978	-5.29	5.28	5.28	0.74379	Phosphatase tensin type (1);	0.107942	0.64402	D	0.000010	D	0.99287	0.9751	H	0.95260	3.645	0.80722	D	1	D	0.54964	0.969	P	0.51918	0.684	D	0.99239	1.0884	9	.	.	.	-0.0364	17.6706	0.88216	0.0:0.0:1.0:0.0	.	24	P60484	PTEN_HUMAN	H	24	ENSP00000361021:D24H	.	D	+	1	0	PTEN	89614276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.855000	0.92236	2.467000	0.83353	0.561000	0.74099	GAC		0.463	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		30	47	0	0	0	1	0	30	47					C	89624296	G	C	89624296	3	2	53	1	0	0	0	0	1	0	0	0	12750	942	33	2	72	2	PTEN	10	89624296	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	18875450	89624296	45910451	35	9515										
TDRD1	56165	broad.mit.edu	37	chr10	115981160	115981160	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	agacgatagaattgccagtgGataaaactatacaagcaaat	8	6	0	2			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:115981160G>T	ENST00000369280.1	+	20	3275	c.2815G>T	c.(2815-2817)Gat>Tat	p.D939Y	TDRD1_ENST00000422662.1_Missense_Mutation_p.D543Y|TDRD1_ENST00000369281.2_Missense_Mutation_p.D825Y|TDRD1_ENST00000251864.2_Missense_Mutation_p.D939Y|TDRD1_ENST00000369282.1_Missense_Mutation_p.D939Y			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	939					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)		ATTGCCAGTGGATAAAACTAT	0.363																																						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.(2815-2817)Gat>Tat		tudor domain containing 1							99	100	100					10																	115981160		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.chr10:115981160G>T	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2815G>T	10.37:g.115981160G>T	ENSP00000358286:p.Asp939Tyr		Somatic				TDRD1_ENST00000369281.2_Missense_Mutation_p.D825Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D543Y|TDRD1_ENST00000369280.1_Missense_Mutation_p.D939Y|TDRD1_ENST00000369282.1_Missense_Mutation_p.D939Y	p.D939Y	NM_198795.1	NP_942090.1	WXS	Illumina GAIIx	Phase_I	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	20	2968	+		Colorectal(252;0.172)|Breast(234;0.188)	939					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.2815G>T		.	.	.	.	.	.	.	.	.	.	G	12.90	2.077823	0.36662	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82	5.92	0.403	0.16350	Maternal tudor protein (1);	0.443769	0.25941	N	0.027317	T	0.12050	0.0293	L	0.48642	1.525	0.26605	N	0.972948	P;P;P;P;P	0.47253	0.759;0.773;0.888;0.892;0.864	P;P;P;B;P	0.49140	0.601;0.452;0.478;0.323;0.447	T	0.08743	-1.0707	10	0.59425	D	0.04	-13.6255	4.7914	0.13250	0.5022:0.1616:0.3361:0.0	.	543;939;825;939;825	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	Y	939;939;825;543;939	ENSP00000358288:D939Y;ENSP00000251864:D939Y;ENSP00000358287:D825Y;ENSP00000402794:D543Y;ENSP00000358286:D939Y	ENSP00000251864:D939Y	D	+	1	0	TDRD1	115971150	0.786000	0.28738	0.994000	0.49952	0.027000	0.11550	1.468000	0.35332	0.124000	0.18369	-0.295000	0.09555	GAT		0.363	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			23	24	1	0	7.41877e-09	1	8.037e-09	23	24					T	115981160	G	T	115981160	3	4	53	1	0	0	0	0	1	0	0	0	15745	1174	41	2	2889	2	TDRD1	10	115981160	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	26356864	115981160	19553587	36	9516										
MMP21	118856	broad.mit.edu	37	chr10	127464289	127464289	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	agtggggacggctccaggtcCgagcggtcccggctgtggaa	18	11	0	0			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:127464289C>T	ENST00000368808.3	-	1	101	c.102G>A	c.(100-102)tcG>tcA	p.S34S		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	34					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	GCTCCAGGTCCGAGCGGTCCC	0.677																																						ENST00000368808.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(100-102)tcG>tcA		matrix metallopeptidase 21							72	63	66					10																	127464289		2203	4300	6503	SO:0001819	synonymous_variant	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127464289C>T	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"matrix metalloproteinase 21"			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.102G>A	10.37:g.127464289C>T			Somatic					p.S34S	NM_147191.1	NP_671724.1	WXS	Illumina GAIIx	Phase_I	Q8N119	MMP21_HUMAN			1	101	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	34					Q5VZP9|Q8NG02	Silent	SNP	ENST00000368808.3	37	c.102G>A	CCDS7647.1																																																																																				0.677	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			19	46	0	0	0	1	0	19	46					T	127464289	C	T	127464289	2	4	53	1	0	0	0	0	0	0	0	1	9669	639	23	1		1	MMP21	10	127464289	Silent	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08	11483129	127464289	8070458	37	9517										
PHOX2A	401	broad.mit.edu	37	chr11	71954958	71954958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	ggggctgtattggaagccgcCgggctggctgcaggcgccaa	18	11	0	0			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr11:71954958C>T	ENST00000298231.5	-	1	262	c.91G>A	c.(91-93)Ggc>Agc	p.G31S	PHOX2A_ENST00000544057.1_Intron	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	31					dopaminergic neuron differentiation (GO:0071542)|locus ceruleus development (GO:0021703)|midbrain development (GO:0030901)|noradrenergic neuron differentiation (GO:0003357)|oculomotor nerve formation (GO:0021623)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of respiratory gaseous exchange (GO:0043576)|somatic motor neuron differentiation (GO:0021523)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|trochlear nerve formation (GO:0021642)	nuclear chromatin (GO:0000790)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						TGGAAGCCGCCGGGCTGGCTG	0.716																																						ENST00000298231.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						c.(91-93)Ggc>Agc		paired-like homeobox 2a							3	4	4					11																	71954958		1692	3694	5386	SO:0001583	missense	401				noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:71954958C>T	AF022722	CCDS8214.1	11q13.4	2014-09-04	2007-07-12	2003-02-14	ENSG00000165462	ENSG00000165462		"Homeoboxes / PRD class"	691	protein-coding gene	gene with protein product		602753	"aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive", "paired-like (aristaless) homeobox 2a"	ARIX, FEOM2		8661014, 11600883	Standard	NM_005169		Approved	PMX2A, CFEOM2	uc001osh.4	O14813	OTTHUMG00000167899	ENST00000298231.5:c.91G>A	11.37:g.71954958C>T	ENSP00000298231:p.Gly31Ser		Somatic				PHOX2A_ENST00000544057.1_Intron	p.G31S	NM_005169.3	NP_005160.2	WXS	Illumina GAIIx	Phase_I	O14813	PHX2A_HUMAN			1	262	-			31					A8K3N0|Q8IVZ2	Missense_Mutation	SNP	ENST00000298231.5	37	c.91G>A	CCDS8214.1	.	.	.	.	.	.	.	.	.	.	c	8.694	0.908106	0.17833	.	.	ENSG00000165462	ENST00000298231	D	0.89196	-2.48	4.41	3.41	0.39046	.	.	.	.	.	T	0.66655	0.2811	N	0.03324	-0.35	0.26923	N	0.966629	B	0.30686	0.29	B	0.17722	0.019	T	0.62760	-0.6786	9	0.02654	T	1	.	5.7189	0.17976	0.0:0.69:0.2014:0.1086	.	31	O14813	PHX2A_HUMAN	S	31	ENSP00000298231:G31S	ENSP00000298231:G31S	G	-	1	0	PHOX2A	71632606	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	2.246000	0.43142	2.164000	0.68074	0.550000	0.68814	GGC		0.716	PHOX2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396885.1	NM_005169		4	11	0	0	0	1	0	4	11					T	71954958	C	T	71954958	3	4	53	1	0	0	0	0	1	0	0	0	11867	652	23	1	775	1	PHOX2A	11	71954958	Missense_Mutation	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08		71954958	63051558	38	9518										
CASP4	837	broad.mit.edu	37	chr11	104822679	104822679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	ttcatgaggacaaagcttgaGggcatctgtagattctcctg	11	8	3	3			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr11:104822679G>A	ENST00000444739.2	-	3	1226	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	CASP4_ENST00000531333.1_Intron|CASP4_ENST00000393150.3_Missense_Mutation_p.L50F	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	106					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CAAAGCTTGAGGGCATCTGTA	0.413																																						ENST00000444739.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23						c.(316-318)Ctc>Ttc		caspase 4, apoptosis-related cysteine peptidase							118	111	113					11																	104822679		2202	4299	6501	SO:0001583	missense	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104822679G>A	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"Caspases"	1505	protein-coding gene	gene with protein product		602664	"caspase 4, apoptosis-related cysteine protease"			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.316C>T	11.37:g.104822679G>A	ENSP00000388566:p.Leu106Phe		Somatic				CASP4_ENST00000393150.3_Missense_Mutation_p.L50F|CASP4_ENST00000531333.1_Intron	p.L106F	NM_001225.3	NP_001216.1	WXS	Illumina GAIIx	Phase_I	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	3	1226	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	106					A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	c.316C>T	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576514	0.28092	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546;ENST00000417440	T;T;T	0.47869	0.83;0.83;0.83	4.03	4.03	0.46877	.	0.484180	0.19615	N	0.110056	T	0.69305	0.3096	M	0.84948	2.725	0.41574	D	0.988704	D;D;P	0.89917	1.0;0.969;0.749	D;P;B	0.87578	0.998;0.735;0.366	T	0.72472	-0.4283	10	0.49607	T	0.09	.	11.5057	0.50466	0.0:0.0:1.0:0.0	.	106;106;106	B4DJH5;B4E2D2;P49662	.;.;CASP4_HUMAN	F	106;50;59;106	ENSP00000388566:L106F;ENSP00000376857:L50F;ENSP00000401673:L106F	ENSP00000347741:L59F	L	-	1	0	CASP4	104327889	0.960000	0.32886	0.874000	0.34290	0.111000	0.19643	1.639000	0.37176	2.060000	0.61445	0.591000	0.81541	CTC		0.413	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		18	35	0	0	0	1	0	18	35					A	104822679	G	A	104822679	3	1	53	1	0	0	0	0	1	0	0	0	2675	1000	35	3	841	3	CASP4	11	104822679	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	32867721	104822679	30183837	39	9519										
JAM3	83700	broad.mit.edu	37	chr11	134009765	134009765	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	ggctgcctgataggggctgtAaatctcaaatccagcaatcg	11	10	1	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr11:134009765A>G	ENST00000299106.4	+	2	255	c.96A>G	c.(94-96)gtA>gtG	p.V32V	JAM3_ENST00000529443.2_Silent_p.V77V|JAM3_ENST00000441717.3_Silent_p.V32V|JAM3_ENST00000524969.1_3'UTR			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	32					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TAGGGGCTGTAAATCTCAAAT	0.438											OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000299106.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10						c.(94-96)gtA>gtG		junctional adhesion molecule 3							138	125	130					11																	134009765		2201	4297	6498	SO:0001819	synonymous_variant	83700				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding	g.chr11:134009765A>G	AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.96A>G	11.37:g.134009765A>G			Somatic	OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1607	JAM3_ENST00000441717.3_Silent_p.V32V|JAM3_ENST00000529443.2_Silent_p.V77V|JAM3_ENST00000524969.1_3'UTR	p.V32V			WXS	Illumina GAIIx	Phase_I	Q9BX67	JAM3_HUMAN		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)	2	255	+	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)	32					B3KWG9|Q8WWL8|Q96FL1	Silent	SNP	ENST00000299106.4	37	c.96A>G	CCDS8494.2	.	.	.	.	.	.	.	.	.	.	A	3.999	-0.002907	0.07773	.	.	ENSG00000166086	ENST00000531698;ENST00000529443	.	.	.	5.52	1.33	0.21861	.	.	.	.	.	T	0.53158	0.1779	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39354	-0.9618	4	.	.	.	.	5.9474	0.19227	0.3351:0.1232:0.5417:0.0	.	.	.	.	E	37	.	.	K	+	1	0	JAM3	133514975	1.000000	0.71417	0.996000	0.52242	0.438000	0.31896	0.917000	0.28665	0.013000	0.14918	-1.133000	0.01973	AAA		0.438	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801		44	31	0	0	0	1	0	44	31					G	134009765	A	G	134009765	2	3	53	1	0	0	0	0	0	0	0	1	7953	349	13	4		4	JAM3	11	134009765	Silent	SNP	A	TCGA-NF-A5CP-01A-12D-A28R-08	29187086	134009765	996751	40	9520										
SCNN1A	6337	broad.mit.edu	37	chr12	6472683	6472683	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	caagctggaggccacgctacGggctcgacgggccccgtgag	16	14	0	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr12:6472683G>C	ENST00000228916.2	-	3	708	c.610C>G	c.(610-612)Cgt>Ggt	p.R204G	SCNN1A_ENST00000360168.3_Missense_Mutation_p.R263G|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000396966.2_Missense_Mutation_p.R204G|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R227G|SCNN1A_ENST00000358945.3_Missense_Mutation_p.R204G	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	204					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GCCACGCTACGGGCTCGACGG	0.741																																						ENST00000358945.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(610-612)Cgt>Ggt		sodium channel, non-voltage-gated 1 alpha subunit	Amiloride(DB00594)|Triamterene(DB00384)						11	14	13					12																	6472683		2195	4285	6480	SO:0001583	missense	0				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6472683G>C	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.610C>G	12.37:g.6472683G>C	ENSP00000228916:p.Arg204Gly		Somatic				SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000396966.2_Missense_Mutation_p.R204G|SCNN1A_ENST00000228916.2_Missense_Mutation_p.R204G|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R227G|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R263G	p.R204G			WXS	Illumina GAIIx	Phase_I	P37088	SCNNA_HUMAN			2	1050	-			204					A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	c.610C>G	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996302	0.54147	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000228916;ENST00000396966;ENST00000543768	T;T;T;T;T	0.72505	-0.61;-0.66;-0.58;-0.24;-0.6	4.27	4.27	0.50696	.	0.432662	0.19693	N	0.108234	T	0.82038	0.4950	M	0.70842	2.15	0.44694	D	0.99768	D;D;P	0.76494	0.999;0.998;0.875	D;D;P	0.69142	0.962;0.93;0.863	D	0.83543	0.0097	10	0.56958	D	0.05	-24.8916	15.0139	0.71570	0.0:0.0:1.0:0.0	.	227;204;263	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	G	263;204;204;204;227	ENSP00000353292:R263G;ENSP00000351825:R204G;ENSP00000228916:R204G;ENSP00000380166:R204G;ENSP00000438739:R227G	ENSP00000228916:R204G	R	-	1	0	SCNN1A	6342944	0.992000	0.36948	0.645000	0.29479	0.005000	0.04900	2.462000	0.45049	2.304000	0.77564	0.561000	0.74099	CGT		0.741	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1			18	10	0	0	0	1	0	18	10					C	6472683	G	C	6472683	3	2	53	1	0	0	0	0	1	0	0	0	13942	1116	39	5	1443	5	SCNN1A	12	6472683	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08		6472683	127379212	41	9521										
LRP1	4035	broad.mit.edu	37	chr12	57572304	57572304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	gctaaggccaacaagtggacCggccacaatgtcaccgtggt	12	12	1	0			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr12:57572304C>T	ENST00000243077.3	+	27	4990	c.4524C>T	c.(4522-4524)acC>acT	p.T1508T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1508					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)	ACAAGTGGACCGGCCACAATG	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.(4522-4524)acC>acT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						106	99	102					12																	57572304		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.chr12:57572304C>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.4524C>T	12.37:g.57572304C>T			Somatic					p.T1508T	NM_002332.2	NP_002323.2	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	27	4990	+			1508					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.4524C>T	CCDS8932.1																																																																																				0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		30	137	0	0	0	1	0	30	137					T	57572304	C	T	57572304	2	4	53	1	0	0	0	0	0	0	0	1	8960	639	23	1		1	LRP1	12	57572304	Silent	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08	51099621	57572304	76279591	42	9522										
NOS1	4842	broad.mit.edu	37	chr12	117723945	117723945	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	tggatcctgcccacacagcgCgaggcattccgccaggcgtg	13	15	0	0			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr12:117723945C>T	ENST00000338101.4	-	5	1258	c.1254G>A	c.(1252-1254)tcG>tcA	p.S418S	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.S418S			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)		CCACACAGCGCGAGGCATTCC	0.562																																					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.(1252-1254)tcG>tcA		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						130	131	130					12																	117723945		2168	4298	6466	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.chr12:117723945C>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.1254G>A	12.37:g.117723945C>T			Somatic				NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.S418S	p.S418S	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)	6	1939	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		418						Silent	SNP	ENST00000338101.4	37	c.1254G>A	CCDS55890.1																																																																																				0.562	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			31	55	0	0	0	1	0	31	55					T	117723945	C	T	117723945	2	4	53	1	0	0	0	0	0	0	0	1	10550	755	27	1		1	NOS1	12	117723945	Silent	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08	60151641	117723945	16127950	43	9523										
DGKH	160851	broad.mit.edu	37	chr13	42763366	42763366	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	aaaccttcctcccagaaagcCgtcaaaccaagggaaatcat	6	13	2	1	rs372414323		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:42763366C>G	ENST00000337343.4	+	15	1854	c.1833C>G	c.(1831-1833)gcC>gcG	p.A611A	DGKH_ENST00000538674.1_Silent_p.A366A|DGKH_ENST00000379274.2_Silent_p.A475A|DGKH_ENST00000536612.1_Silent_p.A475A|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Silent_p.A611A|DGKH_ENST00000261491.5_Silent_p.A611A	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	611					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CCCAGAAAGCCGTCAAACCAA	0.458																																						ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1423-1425)gcC>gcG		diacylglycerol kinase, eta							93	87	89					13																	42763366		2203	4300	6503	SO:0001819	synonymous_variant	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42763366C>G	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1833C>G	13.37:g.42763366C>G			Somatic				DGKH_ENST00000261491.4_Silent_p.A611A|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Silent_p.A475A|DGKH_ENST00000540693.1_Silent_p.A611A|DGKH_ENST00000538674.1_Silent_p.A366A|DGKH_ENST00000337343.4_Silent_p.A611A	p.A475A			WXS	Illumina GAIIx	Phase_I	Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	15	1854	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	611					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Silent	SNP	ENST00000337343.4	37	c.1425C>G	CCDS9381.1																																																																																				0.458	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		22	59	0	0	0	1	0	22	59					G	42763366	C	G	42763366	2	3	53	1	0	0	0	0	0	0	0	1	4472	639	23	5		5	DGKH	13	42763366	Silent	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08		42763366	72406512	44	9524										
FAM124A	220108	broad.mit.edu	37	chr13	51825708	51825708	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	aggaggccatcgacaacgtcCtggcgtggatccaccccgac	12	15	0	0			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:51825708C>A	ENST00000322475.8	+	3	340	c.205C>A	c.(205-207)Ctg>Atg	p.L69M	FAM124A_ENST00000280057.6_Missense_Mutation_p.L105M	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	69										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CGACAACGTCCTGGCGTGGAT	0.692																																						ENST00000322475.8																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26						c.(205-207)Ctg>Atg		family with sequence similarity 124A							25	23	24					13																	51825708		2203	4300	6503	SO:0001583	missense	220108							g.chr13:51825708C>A	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.205C>A	13.37:g.51825708C>A	ENSP00000324625:p.Leu69Met		Somatic				FAM124A_ENST00000280057.6_Missense_Mutation_p.L105M	p.L69M	NM_001242312.1	NP_001229241.1	WXS	Illumina GAIIx	Phase_I	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	3	340	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	69					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	c.205C>A	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271851	0.59649	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.62364	0.03;0.03	5.79	-7.63	0.01290	.	0.079233	0.51477	D	0.000088	T	0.69260	0.3091	M	0.66939	2.045	0.29059	N	0.884016	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.79108	0.988;0.992;0.931	T	0.70241	-0.4926	10	0.52906	T	0.07	-6.2224	13.1846	0.59673	0.0:0.6161:0.1032:0.2806	.	69;105;69	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	M	69;105	ENSP00000324625:L69M;ENSP00000280057:L105M	ENSP00000280057:L105M	L	+	1	2	FAM124A	50723709	0.004000	0.15560	0.035000	0.18076	0.966000	0.64601	0.036000	0.13819	-1.216000	0.02607	-0.880000	0.02959	CTG		0.692	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		10	33	1	0	7.48243e-07	1	8.0106e-07	10	33					A	51825708	C	A	51825708	3	1	53	1	0	0	0	0	1	0	0	0	5430	680	24	5	327	5	FAM124A	13	51825708	Missense_Mutation	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08	9062342	51825708	63344170	45	9525										
PCDH8	5100	broad.mit.edu	37	chr13	53422054	53422054	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	ggctgtgcggctcggccaggCgcacggtctgcagcccgttg	17	14	1	0			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:53422054C>T	ENST00000377942.3	-	1	721	c.518G>A	c.(517-519)cGc>cAc	p.R173H	PCDH8_ENST00000338862.4_Missense_Mutation_p.R173H	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	173	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTCGGCCAGGCGCACGGTCTG	0.716																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(517-519)cGc>cAc		protocadherin 8							7	8	8					13																	53422054		2098	4098	6196	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53422054C>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.518G>A	13.37:g.53422054C>T	ENSP00000367177:p.Arg173His		Somatic				PCDH8_ENST00000338862.4_Missense_Mutation_p.R173H	p.R173H	NM_002590.3	NP_002581.2	WXS	Illumina GAIIx	Phase_I	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	721	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	173			Cadherin 2.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.518G>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587329	0.46110	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000448969	T;T	0.53640	0.61;0.61	4.5	4.5	0.54988	Cadherin (4);Cadherin-like (1);	0.000000	0.43579	D	0.000545	T	0.31199	0.0789	N	0.17872	0.535	0.36342	D	0.859567	B;B	0.32203	0.31;0.36	B;B	0.26416	0.041;0.069	T	0.44065	-0.9352	10	0.52906	T	0.07	.	12.5703	0.56332	0.0:1.0:0.0:0.0	.	173;173	O95206-2;O95206	.;PCDH8_HUMAN	H	173	ENSP00000367177:R173H;ENSP00000341350:R173H	ENSP00000341350:R173H	R	-	2	0	PCDH8	52320055	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.744000	0.55112	2.339000	0.79563	0.555000	0.69702	CGC		0.716	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		6	11	0	0	0	1	0	6	11					T	53422054	C	T	53422054	3	4	53	1	0	0	0	0	1	0	0	0	11526	768	27	1	2706	1	PCDH8	13	53422054	Missense_Mutation	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08	1596346	53422054	61747824	46	9526										
TBC1D4	9882	broad.mit.edu	37	chr13	75884163	75884163	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	cacaagctcctcagttctttTgatttctttctttcttcaat	3	11	6	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:75884163T>C	ENST00000377636.3	-	14	2854	c.2508A>G	c.(2506-2508)tcA>tcG	p.S836S	TBC1D4_ENST00000431480.2_Silent_p.S828S|TBC1D4_ENST00000377625.2_Silent_p.S773S|TBC1D4_ENST00000425511.1_Silent_p.S53S	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	836					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCAGTTCTTTTGATTTCTTTC	0.433																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2506-2508)tcA>tcG		TBC1 domain family, member 4							160	142	148					13																	75884163		1836	4082	5918	SO:0001819	synonymous_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75884163T>C	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2508A>G	13.37:g.75884163T>C			Somatic				TBC1D4_ENST00000431480.2_Silent_p.S828S|TBC1D4_ENST00000425511.1_Silent_p.S53S|TBC1D4_ENST00000377625.2_Silent_p.S773S	p.S836S	NM_014832.2	NP_055647.2	WXS	Illumina GAIIx	Phase_I	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	14	2854	-		Prostate(6;0.014)|Breast(118;0.0982)	836					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	c.2508A>G	CCDS41901.1																																																																																				0.433	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		23	25	0	0	0	1	0	23	25					C	75884163	T	C	75884163	2	2	53	1	0	0	0	0	0	0	0	1	15637	1799	63	4		4	TBC1D4	13	75884163	Silent	SNP	T	TCGA-NF-A5CP-01A-12D-A28R-08	22462109	75884163	39285715	47	9527										
RBM26	64062	broad.mit.edu	37	chr13	79911276	79911276	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	tcttctctatcgctctccgtAaatgcagaaatctccaatgc	5	13	4	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:79911276A>C	ENST00000438737.2	-	19	3134	c.2694T>G	c.(2692-2694)ttT>ttG	p.F898L	RBM26_ENST00000267229.7_Missense_Mutation_p.F871L|RBM26_ENST00000438724.1_Missense_Mutation_p.F874L			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	898	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)		CGCTCTCCGTAAATGCAGAAA	0.507																																						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.(2692-2694)ttT>ttG		RNA binding motif protein 26							100	85	90					13																	79911276		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79911276A>C	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.2694T>G	13.37:g.79911276A>C	ENSP00000387531:p.Phe898Leu		Somatic				RBM26_ENST00000438724.1_Missense_Mutation_p.F874L|RBM26_ENST00000267229.7_Missense_Mutation_p.F871L	p.F898L			WXS	Illumina GAIIx	Phase_I	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	19	3134	-		Acute lymphoblastic leukemia(28;0.0279)	898			RRM 2.		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.2694T>G		.	.	.	.	.	.	.	.	.	.	A	17.75	3.465371	0.63513	.	.	ENSG00000139746	ENST00000449987;ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.52295	0.68;0.67	5.11	5.11	0.69529	RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.42426	0.1202	N	0.05012	-0.13	0.58432	D	0.999999	D;P;P;P	0.58268	0.982;0.802;0.702;0.802	D;B;B;B	0.67548	0.952;0.337;0.182;0.337	T	0.39418	-0.9615	9	.	.	.	-15.6625	10.0405	0.42155	0.9134:0.0:0.0866:0.0	.	255;874;898;871	B4DZH7;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	L	84;871;899;898;874	ENSP00000267229:F871L;ENSP00000390222:F874L	.	F	-	3	2	RBM26	78809277	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.145000	0.42207	2.042000	0.60477	0.528000	0.53228	TTT		0.507	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		14	35	0	0	0	1	0	14	35					C	79911276	A	C	79911276	3	2	53	1	0	0	0	0	1	0	0	0	13141	359	13	4	345	4	RBM26	13	79911276	Missense_Mutation	SNP	A	TCGA-NF-A5CP-01A-12D-A28R-08	4027113	79911276	35258602	48	9528										
OR11H12	440153	broad.mit.edu	37	chr14	19377911	19377911	+	Frame_Shift_Del	DEL	C	C	-													0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	ttcctttcagagaaaaaaaaCatctcctttgctggatgttt							TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr14:19377911delC	ENST00000550708.1	+	1	390	c.318delC	c.(316-318)aacfs	p.N106fs		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGAAAAAAAACATCTCCTTTG	0.388																																						ENST00000550708.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(316-318)aafs		olfactory receptor, family 11, subfamily H, member 12							4	4	4					14																	19377911		1035	2474	3509	SO:0001589	frameshift_variant	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19377911delC		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.318delC	14.37:g.19377911delC	ENSP00000449002:p.Asn106fs		Somatic					p.N106fs	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	WXS	Illumina GAIIx	Phase_I	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	390	+	all_cancers(95;0.00108)		106						Frame_Shift_Del	DEL	ENST00000550708.1	37	c.318delC	CCDS32017.1																																																																																				0.388	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		22	82						22	82	---	---	---	---	-	19377911	C	-	19377911	7	5	53	1	0	1	0	1	0	0	0	0	10936	477	17	0	320	0	OR11H12	14	19377911	Frame_Shift_Del	DEL	C	TCGA-NF-A5CP-01A-12D-A28R-08		19377911	87971629	49	9529										
C14orf106	55320	broad.mit.edu	37	chr14	45711965	45711965	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	caaaccaaaaatagtttaccGtaagttaaattgtgcagtgg	8	6	0	0			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr14:45711965G>T	ENST00000310806.4	-	3	1115	c.657C>A	c.(655-657)taC>taA	p.Y219*	MIS18BP1_ENST00000492652.1_5'Flank	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	219					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						ATAGTTTACCGTAAGTTAAAT	0.343																																						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.e3+1		MIS18 binding protein 1							117	121	119					14																	45711965		2203	4300	6503	SO:0001630	splice_region_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45711965G>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.658+1C>A	14.37:g.45711965G>T			Somatic					p.Y219_splice	NM_018353.4	NP_060823.3	WXS	Illumina GAIIx	Phase_I	Q6P0N0	M18BP_HUMAN			3	1115	-			219					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Splice_Site	SNP	ENST00000310806.4	37	c.658_splice	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	G	38	6.988398	0.97983	.	.	ENSG00000129534	ENST00000310806	.	.	.	4.43	-0.759	0.11045	.	0.993878	0.08162	N	0.988373	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-13.9168	7.4861	0.27435	0.566:0.0:0.434:0.0	.	.	.	.	X	219	.	ENSP00000309790:Y219X	Y	-	3	2	MIS18BP1	44781715	0.732000	0.28121	0.994000	0.49952	0.749000	0.42624	-0.712000	0.05013	-0.216000	0.10048	-0.482000	0.04802	TAC		0.343	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2		Nonsense_Mutation	4	84	1	0	0.150653	1	0.152327	4	84					T	45711965	G	T	45711965	5	4	53	1	0	0	0	0	0	0	1	0	1740	1159	40	5	2801	5	C14orf106	14	45711965	Splice_Site	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	26334054	45711965	61637575	50	9530										
ATP10A	57194	broad.mit.edu	37	chr15	25928532	25928532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	gtcacgagcgggggaagtgaCgagaagagcagattaaagaa	16	5	1	5			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr15:25928532C>T	ENST00000356865.6	-	17	3504	c.3393G>A	c.(3391-3393)tcG>tcA	p.S1131S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1131					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)		GGGGAAGTGACGAGAAGAGCA	0.527																																						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.(3391-3393)tcG>tcA		ATPase, class V, type 10A							83	78	80					15																	25928532		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.chr15:25928532C>T	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.3393G>A	15.37:g.25928532C>T			Somatic					p.S1131S	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)	17	3504	-		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)	1131					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.3393G>A	CCDS32178.1																																																																																				0.527	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		4	63	0	0	0	1	0	4	63					T	25928532	C	T	25928532	2	4	53	1	0	0	0	0	0	0	0	1	1116	523	19	1		1	ATP10A	15	25928532	Silent	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08		25928532	76602860	51	9531										
MAP1A	4130	broad.mit.edu	37	chr15	43820144	43820144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	ctcacacctggggcctgcccGacccagtctggacttccctg	10	18	2	0			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr15:43820144G>A	ENST00000300231.5	+	4	6923	c.6473G>A	c.(6472-6474)cGa>cAa	p.R2158Q	MAP1A_ENST00000399453.1_Missense_Mutation_p.R2158Q|MAP1A_ENST00000382031.1_Missense_Mutation_p.R2396Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2158					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)	GGGCCTGCCCGACCCAGTCTG	0.617																																						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.(7186-7188)cGa>cAa		microtubule-associated protein 1A	Estramustine(DB01196)						82	90	87					15																	43820144		1991	4157	6148	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43820144G>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.6473G>A	15.37:g.43820144G>A	ENSP00000300231:p.Arg2158Gln		Somatic				MAP1A_ENST00000300231.5_Missense_Mutation_p.R2158Q|MAP1A_ENST00000399453.1_Missense_Mutation_p.R2158Q	p.R2396Q			WXS	Illumina GAIIx	Phase_I	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	7218	+		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)	2158					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.7187G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.167278	0.38315	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01725	4.67;4.68;4.68	4.9	3.97	0.46021	.	0.351137	0.16458	N	0.213534	T	0.03011	0.0089	L	0.36672	1.1	0.31132	N	0.70766	D	0.57571	0.98	P	0.48677	0.586	T	0.39663	-0.9603	10	0.36615	T	0.2	-1.9677	12.4154	0.55490	0.0:0.1698:0.8302:0.0	.	2158	P78559	MAP1A_HUMAN	Q	2396;2158;2158	ENSP00000371462:R2396Q;ENSP00000382380:R2158Q;ENSP00000300231:R2158Q	ENSP00000300231:R2158Q	R	+	2	0	MAP1A	41607436	0.879000	0.30193	1.000000	0.80357	0.995000	0.86356	1.838000	0.39211	1.244000	0.43870	0.655000	0.94253	CGA		0.617	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		89	87	0	0	0	1	0	89	87					A	43820144	G	A	43820144	3	1	53	1	0	0	0	0	1	0	0	0	9236	1058	37	1	6475	1	MAP1A	15	43820144	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	17891612	43820144	58711248	52	9532										
SRRM2	23524	broad.mit.edu	37	chr16	2816009	2816009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	tcactcaaggtcacctgcccGgcaggaaagttcccggacct	10	15	3	0			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr16:2816009G>A	ENST00000301740.8	+	11	6029	c.5480G>A	c.(5479-5481)cGg>cAg	p.R1827Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1827	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			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						TCACCTGCCCGGCAGGAAAGT	0.652																																						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.(5479-5481)cGg>cAg		serine/arginine repetitive matrix 2							38	43	42					16																	2816009		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.chr16:2816009G>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.5480G>A	16.37:g.2816009G>A	ENSP00000301740:p.Arg1827Gln		Somatic					p.R1827Q	NM_016333.3	NP_057417.3	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			11	6029	+			1827			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.5480G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134248	0.37630	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.28666	1.6	5.46	5.46	0.80206	.	0.000000	0.56097	D	0.000037	T	0.34077	0.0885	N	0.08118	0	0.29814	N	0.831367	D	0.69078	0.997	D	0.70227	0.968	T	0.28299	-1.0048	10	0.40728	T	0.16	-8.8333	14.803	0.69929	0.0:0.0:1.0:0.0	.	1827	Q9UQ35	SRRM2_HUMAN	Q	1827;1827;1079	ENSP00000301740:R1827Q	ENSP00000301740:R1827Q	R	+	2	0	SRRM2	2756010	0.891000	0.30450	0.998000	0.56505	0.994000	0.84299	5.510000	0.67018	2.562000	0.86427	0.650000	0.86243	CGG		0.652	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			10	45	0	0	0	1	0	10	45					A	2816009	G	A	2816009	3	1	53	1	0	0	0	0	1	0	0	0	15184	1116	39	1	5518	1	SRRM2	16	2816009	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08		2816009	87538744	53	9533										
SBK1	388228	broad.mit.edu	37	chr16	28331566	28331566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	cgacttcggcatgacgcgccGcgtgggctgccgcgtcaagc	15	15	1	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr16:28331566G>A	ENST00000341901.4	+	4	1388	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(3)|ovary(1)	5						ATGACGCGCCGCGTGGGCTGC	0.726																																						ENST00000341901.4																			0				kidney(1)|lung(3)|ovary(1)	5						c.(598-600)cGc>cAc		SH3 domain binding kinase 1							9	12	11					16																	28331566		2128	4186	6314	SO:0001583	missense	388228					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr16:28331566G>A		CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"SH3-binding domain kinase 1"				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.599G>A	16.37:g.28331566G>A	ENSP00000343248:p.Arg200His		Somatic					p.R200H	NM_001024401.2	NP_001019572.1	WXS	Illumina GAIIx	Phase_I	Q52WX2	SBK1_HUMAN			4	1388	+			200			Protein kinase.			Missense_Mutation	SNP	ENST00000341901.4	37	c.599G>A	CCDS32416.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633221	0.87660	.	.	ENSG00000188322	ENST00000341901	T	0.66099	-0.19	4.31	3.34	0.38264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.133360	0.53938	D	0.000052	T	0.59487	0.2197	L	0.35593	1.075	0.43390	D	0.995508	D	0.76494	0.999	D	0.65773	0.938	T	0.56159	-0.8025	10	0.12766	T	0.61	-19.2587	5.8159	0.18492	0.2286:0.0:0.7714:0.0	.	200	Q52WX2	SBK1_HUMAN	H	200	ENSP00000343248:R200H	ENSP00000343248:R200H	R	+	2	0	SBK1	28239067	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.802000	0.62539	1.920000	0.55613	0.462000	0.41574	CGC		0.726	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		17	14	0	0	0	1	0	17	14					A	28331566	G	A	28331566	3	1	53	1	0	0	0	0	1	0	0	0	13875	1087	38	1	609	1	SBK1	16	28331566	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	25515557	28331566	62023187	54	9534										
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	p.R248Q	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	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		45	8	0	0	0	1	0	45	8					T	7577538	C	T	7577538	3	4	53	1	0	0	0	0	1	0	0	0	16396	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08		7577538	73617672	55	9535										
NF1	4763	broad.mit.edu	37	chr17	29701048	29701048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	caggaatcgacaaggagaacGttgaactctcccctaccact	8	13	1	2	rs377393842		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:29701048G>A	ENST00000358273.4	+	58	8778	c.8395G>A	c.(8395-8397)Gtt>Att	p.V2799I	NF1_ENST00000356175.3_Missense_Mutation_p.V2778I|NF1_ENST00000444181.2_Missense_Mutation_p.V592I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2799					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAAGGAGAACGTTGAACTCTC	0.493			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(8395-8397)Gtt>Att		neurofibromin 1		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	77	70	72		8332,8395	4.6	1	17		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NF1	NM_000267.3,NM_001042492.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	2778/2819,2799/2840	29701048	1,13005	2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29701048G>A		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.8395G>A	17.37:g.29701048G>A	ENSP00000351015:p.Val2799Ile	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	Somatic				NF1_ENST00000356175.3_Missense_Mutation_p.V2778I|NF1_ENST00000444181.2_Missense_Mutation_p.V592I	p.V2799I	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)	58	8778	+		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)	2799					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.8395G>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423745	0.62733	0.0	1.16E-4	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.51325	3.08;3.23;2.91;0.71	5.51	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	N	0.24115	0.695	0.80722	D	1	D;D	0.57899	0.981;0.968	D;P	0.65010	0.931;0.854	T	0.40270	-0.9572	10	0.18276	T	0.48	.	14.5432	0.68011	0.0705:0.0:0.9295:0.0	.	2778;2799	P21359-2;P21359	.;NF1_HUMAN	I	2799;2778;2462;592	ENSP00000351015:V2799I;ENSP00000348498:V2778I;ENSP00000389907:V2462I;ENSP00000396481:V592I	ENSP00000348498:V2778I	V	+	1	0	NF1	26725174	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	7.597000	0.82733	1.338000	0.45544	-0.244000	0.11960	GTT		0.493	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		6	62	0	0	0	1	0	6	62					A	29701048	G	A	29701048	3	1	53	1	0	0	0	0	1	0	0	0	10365	1145	40	1	8686	1	NF1	17	29701048	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	22123510	29701048	51494162	56	9536										
CD300C	10871	broad.mit.edu	37	chr17	72541016	72541016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	gtcctgtgttccttctcataGcgacactgcacactcaggga	9	13	2	0			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:72541016G>A	ENST00000330793.1	-	2	492	c.132C>T	c.(130-132)cgC>cgT	p.R44R		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	44	Ig-like V-type.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CCTTCTCATAGCGACACTGCA	0.532																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	ENST00000330793.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						c.(130-132)cgC>cgT		CD300c molecule							98	88	91					17																	72541016		2203	4300	6503	SO:0001819	synonymous_variant	10871				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr17:72541016G>A	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19320	protein-coding gene	gene with protein product		606786	"CD300c antigen"			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.132C>T	17.37:g.72541016G>A			Somatic					p.R44R	NM_006678.3	NP_006669.1	WXS	Illumina GAIIx	Phase_I	Q08708	CLM6_HUMAN			2	492	-			44			Ig-like V-type.			Silent	SNP	ENST00000330793.1	37	c.132C>T	CCDS11701.1																																																																																				0.532	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		29	34	0	0	0	1	0	29	34					A	72541016	G	A	72541016	2	1	53	1	0	0	0	0	0	0	0	1	2999	958	34	3		3	CD300C	17	72541016	Silent	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	42839968	72541016	8654194	57	9537										
ENPP7	339221	broad.mit.edu	37	chr17	77709178	77709178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	tcaacctgatcatcacatccGaccacggcatgacgaccgtg	8	15	3	2	rs199553695		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:77709178G>A	ENST00000328313.5	+	3	957	c.736G>A	c.(736-738)Gac>Aac	p.D246N		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CATCACATCCGACCACGGCAT	0.612																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(736-738)Gac>Aac		ectonucleotide pyrophosphatase/phosphodiesterase 7							110	89	96					17																	77709178		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77709178G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.736G>A	17.37:g.77709178G>A	ENSP00000332656:p.Asp246Asn		Somatic					p.D246N	NM_178543.3	NP_848638.2	WXS	Illumina GAIIx	Phase_I	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	957	+			246						Missense_Mutation	SNP	ENST00000328313.5	37	c.736G>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833997	0.91036	.	.	ENSG00000182156	ENST00000328313	D	0.92048	-2.96	5.39	4.41	0.53225	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97009	0.9023	M	0.94021	3.485	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.97987	1.0352	10	0.87932	D	0	-74.0717	15.6313	0.76912	0.0:0.0:0.8618:0.1382	.	246	Q6UWV6	ENPP7_HUMAN	N	246	ENSP00000332656:D246N	ENSP00000332656:D246N	D	+	1	0	ENPP7	75323773	1.000000	0.71417	0.934000	0.37439	0.791000	0.44710	7.909000	0.87444	1.247000	0.43917	0.655000	0.94253	GAC		0.612	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		7	94	0	0	0	1	0	7	94					A	77709178	G	A	77709178	3	1	53	1	0	0	0	0	1	0	0	0	5137	1058	37	1	746	1	ENPP7	17	77709178	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	5168162	77709178	3486032	58	9538										
ASPSCR1	79058	broad.mit.edu	37	chr17	79974988	79974988	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	cccaagtggctgaagctgccGggtactgcggctgggtggaa	17	10	0	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:79974988G>A	ENST00000306739.4	+	15	1744	c.1647G>A	c.(1645-1647)ccG>ccA	p.P549P	ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306729.7_Splice_Site_p.P643P|STRA13_ENST00000583767.1_5'Flank|ASPSCR1_ENST00000580534.1_Splice_Site_p.P497P	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	549					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGAAGCTGCCGGGTACTGCGG	0.721			T	TFE3	alveolar soft part sarcoma																																	ENST00000306729.7				Dom	yes		17	17q25	79058	T	"alveolar soft part sarcoma chromosome region, candidate 1"			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(167)	0				breast(2)|large_intestine(2)	4						c.e16+1		alveolar soft part sarcoma chromosome region, candidate 1																																				SO:0001630	splice_region_variant	79058						protein binding	g.chr17:79974988G>A	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"UBX domain containing"	13825	protein-coding gene	gene with protein product	"UBX domain protein 9"	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1648+1G>A	17.37:g.79974988G>A			Somatic				ASPSCR1_ENST00000306739.4_Splice_Site_p.P549_splice|ASPSCR1_ENST00000580534.1_Splice_Site_p.P497_splice|ASPSCR1_ENST00000582404.1_3'UTR	p.P643_splice	NM_001251888.1	NP_001238817.1	WXS	Illumina GAIIx	Phase_I	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		16	2026	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		549					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Splice_Site	SNP	ENST00000306739.4	37	c.1930_splice	CCDS11796.1																																																																																				0.721	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083	Silent	11	20	0	0	0	1	0	11	20					A	79974988	G	A	79974988	5	1	53	1	0	0	0	0	0	0	1	0	1059	1130	39	1	1705	1	ASPSCR1	17	79974988	Splice_Site	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	2265810	79974988	1220222	59	9539										
KIAA1632	57724	broad.mit.edu	37	chr18	43526694	43526694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	ccctgaggaggatggcttccGctcgctgggcttcatgtggc	15	12	1	1	rs372785168		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr18:43526694G>A	ENST00000282041.5	-	7	1646	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	538					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						GATGGCTTCCGCTCGCTGGGC	0.478																																						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.(1612-1614)Cgg>Tgg		ectopic P-granules autophagy protein 5 homolog (C. elegans)		G	TRP/ARG	0,3994		0,0,1997	108	109	109		1612	-6	0.1	18		109	1,8325		0,1,4162	no	missense	EPG5	NM_020964.2	101	0,1,6159	AA,AG,GG		0.012,0.0,0.0081	benign	538/2580	43526694	1,12319	1997	4163	6160	SO:0001583	missense	57724				autophagy			g.chr18:43526694G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1612C>T	18.37:g.43526694G>A	ENSP00000282041:p.Arg538Trp		Somatic					p.R538W	NM_020964.2	NP_066015.2	WXS	Illumina GAIIx	Phase_I	Q9HCE0	EPG5_HUMAN			7	1646	-			538					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.1612C>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899205	0.33535	0.0	1.2E-4	ENSG00000152223	ENST00000282041	T	0.81163	-1.46	4.57	-6.02	0.02192	.	1.203510	0.06133	N	0.671061	T	0.47469	0.1447	N	0.01352	-0.895	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.32824	-0.9892	10	0.46703	T	0.11	1.0457	2.2547	0.04052	0.4929:0.0879:0.2392:0.18	.	538;538	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	W	538	ENSP00000282041:R538W	ENSP00000282041:R538W	R	-	1	2	EPG5	41780692	0.005000	0.15991	0.062000	0.19696	0.679000	0.39708	-0.006000	0.12833	-0.759000	0.04684	0.305000	0.20034	CGG		0.478	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		16	41	0	0	0	1	0	16	41					A	43526694	G	A	43526694	3	1	53	1	0	0	0	0	1	0	0	0	8258	1086	38	1	6279	1	KIAA1632	18	43526694	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08		43526694	34550554	60	9540										
ALPK2	115701	broad.mit.edu	37	chr18	56204502	56204502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	actataactggctggtgtggCtgtggtgtctgcggcactag	15	8	1	0			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr18:56204502C>T	ENST00000361673.3	-	5	3130	c.2917G>A	c.(2917-2919)Gcc>Acc	p.A973T	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	973						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						GCTGGTGTGGCTGTGGTGTCT	0.458																																						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.(2917-2919)Gcc>Acc		alpha-kinase 2							90	89	89					18																	56204502		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56204502C>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.2917G>A	18.37:g.56204502C>T	ENSP00000354991:p.Ala973Thr		Somatic				RP11-1151B14.4_ENST00000591360.1_RNA	p.A973T	NM_052947.3	NP_443179.3	WXS	Illumina GAIIx	Phase_I	Q86TB3	ALPK2_HUMAN			5	3130	-			973					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.2917G>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141552	0.57044	.	.	ENSG00000198796	ENST00000361673	T	0.42513	0.97	5.57	5.57	0.84162	.	1.764430	0.03231	N	0.178893	T	0.35770	0.0943	N	0.14661	0.345	0.09310	N	1	B;B	0.19817	0.016;0.039	B;B	0.18561	0.022;0.014	T	0.27872	-1.0061	10	0.45353	T	0.12	-4.0629	15.0658	0.71992	0.0:1.0:0.0:0.0	.	973;973	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	T	973	ENSP00000354991:A973T	ENSP00000354991:A973T	A	-	1	0	ALPK2	54355482	0.101000	0.21875	0.053000	0.19242	0.194000	0.23727	2.282000	0.43461	2.630000	0.89119	0.591000	0.81541	GCC		0.458	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		4	54	0	0	0	1	0	4	54					T	56204502	C	T	56204502	3	4	53	1	0	0	0	0	1	0	0	0	545	797	28	3	3631	3	ALPK2	18	56204502	Missense_Mutation	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08	12677808	56204502	21872746	61	9541										
OCEL1	79629	broad.mit.edu	37	chr19	17337954	17337954	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	gggcgccaagaagcctattgGagccatccctaaggggcata	13	11	0	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:17337954G>C	ENST00000215061.4	+	3	442	c.398G>C	c.(397-399)gGa>gCa	p.G133A	OCEL1_ENST00000597836.1_Missense_Mutation_p.G77A|OCEL1_ENST00000601529.1_Missense_Mutation_p.G133A|OCEL1_ENST00000601576.1_3'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	133										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						AAGCCTATTGGAGCCATCCCT	0.592																																						ENST00000215061.4																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						c.(397-399)gGa>gCa		occludin/ELL domain containing 1							65	75	71					19																	17337954		2203	4300	6503	SO:0001583	missense	79629							g.chr19:17337954G>C	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.398G>C	19.37:g.17337954G>C	ENSP00000215061:p.Gly133Ala		Somatic				OCEL1_ENST00000597836.1_Missense_Mutation_p.G77A|OCEL1_ENST00000601529.1_Missense_Mutation_p.G133A|OCEL1_ENST00000601576.1_3'UTR	p.G133A	NM_024578.1	NP_078854.1	WXS	Illumina GAIIx	Phase_I	Q9H607	OCEL1_HUMAN			3	442	+			133						Missense_Mutation	SNP	ENST00000215061.4	37	c.398G>C	CCDS12351.1	.	.	.	.	.	.	.	.	.	.	G	9.235	1.036738	0.19669	.	.	ENSG00000099330	ENST00000215061	T	0.31247	1.5	3.94	-3.16	0.05217	.	1.038830	0.07587	N	0.921245	T	0.13713	0.0332	N	0.19112	0.55	0.09310	N	1	B	0.29037	0.231	B	0.19666	0.026	T	0.23404	-1.0189	10	0.44086	T	0.13	.	0.7269	0.00950	0.1964:0.1544:0.3342:0.3151	.	133	Q9H607	OCEL1_HUMAN	A	133	ENSP00000215061:G133A	ENSP00000215061:G133A	G	+	2	0	OCEL1	17198954	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.920000	0.04013	-0.248000	0.09583	-0.500000	0.04577	GGA		0.592	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		12	142	0	0	0	1	0	12	142					C	17337954	G	C	17337954	3	2	53	1	0	0	0	0	1	0	0	0	10825	1174	41	2	408	2	OCEL1	19	17337954	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08		17337954	41791029	62	9542										
ZNF571	51276	broad.mit.edu	37	chr19	38056900	38056900	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	gtagctgaaaccttgtctgcAttccttacatttgtacaatt	6	9	1	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:38056900A>G	ENST00000328550.2	-	4	529	c.430T>C	c.(430-432)Tgc>Cgc	p.C144R	ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000593133.1_Missense_Mutation_p.C144R|ZNF571-AS1_ENST00000591430.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.C144R|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.C144R|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			CCTTGTCTGCATTCCTTACAT	0.353																																						ENST00000328550.2																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(430-432)Tgc>Cgc		zinc finger protein 571							112	108	109					19																	38056900		2203	4300	6503	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056900A>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.430T>C	19.37:g.38056900A>G	ENSP00000333660:p.Cys144Arg		Somatic				ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.C144R|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.C144R|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.C144R|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA	p.C144R			WXS	Illumina GAIIx	Phase_I	Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	529	-			144					Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.430T>C	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	A	16.54	3.152264	0.57259	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.08807	3.05;3.05;3.05	3.23	3.23	0.37069	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29914	0.0748	H	0.98577	4.27	0.22266	N	0.99924	P	0.42409	0.779	P	0.44921	0.464	T	0.38222	-0.9671	9	0.72032	D	0.01	.	10.6374	0.45573	1.0:0.0:0.0:0.0	.	144	Q7Z3V5	ZN571_HUMAN	R	144	ENSP00000333660:C144R;ENSP00000392638:C144R;ENSP00000351594:C144R	ENSP00000333660:C144R	C	-	1	0	ZNF571	42748740	0.982000	0.34865	0.020000	0.16555	0.608000	0.37181	5.190000	0.65104	1.328000	0.45358	0.260000	0.18958	TGC		0.353	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		6	54	0	0	0	1	0	6	54					G	38056900	A	G	38056900	3	3	53	1	0	0	0	0	1	0	0	0	18018	217	8	4	1403	4	ZNF571	19	38056900	Missense_Mutation	SNP	A	TCGA-NF-A5CP-01A-12D-A28R-08	20718946	38056900	21072083	63	9543										
ZNF470	388566	broad.mit.edu	37	chr19	57089191	57089191	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	tgagaaagccttcagccatcGtgggtctcttactcttcatc	8	12	4	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:57089191G>A	ENST00000330619.8	+	6	2080	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R465H	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TTCAGCCATCGTGGGTCTCTT	0.443																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1393-1395)cGt>cAt		zinc finger protein 470							81	87	85					19																	57089191		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089191G>A	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1394G>A	19.37:g.57089191G>A	ENSP00000333223:p.Arg465His		Somatic				ZNF470_ENST00000391709.3_Missense_Mutation_p.R465H|ZNF470_ENST00000601902.1_Intron	p.R465H	NM_001001668.3	NP_001001668.3	WXS	Illumina GAIIx	Phase_I	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2080	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	465					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1394G>A	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	8.334	0.827228	0.16749	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.07800	3.16;3.16	4.37	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	N	0.21282	0.65	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.45338	-0.9268	9	0.13108	T	0.6	.	6.2673	0.20934	0.4948:0.0:0.5051:0.0	.	465	Q6ECI4	ZN470_HUMAN	H	465	ENSP00000375590:R465H;ENSP00000333223:R465H	ENSP00000333223:R465H	R	+	2	0	ZNF470	61781003	0.000000	0.05858	0.976000	0.42696	0.936000	0.57629	-0.847000	0.04331	0.771000	0.33359	0.650000	0.86243	CGT		0.443	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		34	63	0	0	0	1	0	34	63					A	57089191	G	A	57089191	3	1	53	1	0	0	0	0	1	0	0	0	17944	1145	40	1	1408	1	ZNF470	19	57089191	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	19032291	57089191	2039792	64	9544										
CHMP2A	27243	broad.mit.edu	37	chr19	59063715	59063716	+	Frame_Shift_Del	DEL	AC	AC	-													0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	gagtgtctggatcttgagggAcacagcctggatgttggccc							TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:59063715_59063716delAC	ENST00000600118.1	-	2	683_684	c.258_259delGT	c.(256-261)gtgtccfs	p.S87fs	CHMP2A_ENST00000601220.1_Frame_Shift_Del_p.S87fs|CHMP2A_ENST00000312547.2_Frame_Shift_Del_p.S87fs			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	87	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|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)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		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)		ATCTTGAGGGACACAGCCTGGA	0.545																																						ENST00000600118.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7						c.(256-261)gtccfs		charged multivesicular body protein 2A																																				SO:0001589	frameshift_variant	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59063715_59063716delAC	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"Charged multivesicular body proteins"	30216	protein-coding gene	gene with protein product	"putative breast adenocarcinoma marker (32kD)", "VPS2 homolog A (S. cerevisiae)"	610893	"chromatin modifying protein 2A"			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.258_259delGT	19.37:g.59063717_59063718delAC	ENSP00000469240:p.Ser87fs		Somatic				CHMP2A_ENST00000601220.1_Frame_Shift_Del_p.VS86fs|CHMP2A_ENST00000312547.2_Frame_Shift_Del_p.VS86fs	p.VS86fs			WXS	Illumina GAIIx	Phase_I	O43633	CHM2A_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)	2	683_684	-		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)	86			Interaction with VPS4B.		B2R4W6|Q3ZTT0	Frame_Shift_Del	DEL	ENST00000600118.1	37	c.258_259delGT	CCDS12986.1																																																																																				0.545	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	NM_014453		55	123						55	123	---	---	---	---	-	59063716	AC	-	59063715	7	5	53	1	0	1	0	1	0	0	0	0	3356	275	10	0	425	0	CHMP2A	19	59063715	Frame_Shift_Del	DEL	AC	TCGA-NF-A5CP-01A-12D-A28R-08	1974524	59063715	65268	65	9545										
C21orf2	755	broad.mit.edu	37	chr21	45753071	45753071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	gctcagccaggctggggatgCggttcctccgcaggtacagc	15	13	1	0	rs140451304		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr21:45753071C>T	ENST00000339818.4	-	4	425	c.218G>A	c.(217-219)cGc>cAc	p.R73H	C21orf2_ENST00000496321.1_5'UTR|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000397956.3_Missense_Mutation_p.R73H|C21orf2_ENST00000325223.7_Missense_Mutation_p.R73H	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	73					cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		GCTGGGGATGCGGTTCCTCCG	0.677																																						ENST00000339818.4																			0				endometrium(2)	2						c.(217-219)cGc>cAc		chromosome 21 open reading frame 2							26	27	27					21																	45753071		2202	4300	6502	SO:0001583	missense	755							g.chr21:45753071C>T	Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"nuclear encoded mitochondrial protein", "leucine rich repeat containing 76"	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.218G>A	21.37:g.45753071C>T	ENSP00000344566:p.Arg73His		Somatic				C21orf2_ENST00000397956.3_Missense_Mutation_p.R73H|C21orf2_ENST00000496321.1_5'UTR|C21orf2_ENST00000325223.7_Missense_Mutation_p.R73H|AP001062.7_ENST00000448927.1_RNA	p.R73H	NM_004928.2	NP_004919.1	WXS	Illumina GAIIx	Phase_I	O43822	CU002_HUMAN		Colorectal(79;0.0806)	4	425	-			73					A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Missense_Mutation	SNP	ENST00000339818.4	37	c.218G>A	CCDS13709.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164124	0.38217	.	.	ENSG00000160226	ENST00000339818;ENST00000380160;ENST00000397956;ENST00000325223	T;T;T	0.09911	2.93;2.93;2.93	4.99	2.04	0.26737	.	0.730148	0.13311	N	0.397507	T	0.05960	0.0155	L	0.33245	0.995	0.09310	N	0.999998	B;P;B;B	0.36378	0.04;0.55;0.049;0.001	B;B;B;B	0.24541	0.007;0.054;0.011;0.001	T	0.34254	-0.9836	10	0.34782	T	0.22	-18.6603	4.4168	0.11461	0.17:0.583:0.0:0.247	.	73;73;73;32	G5E952;Q8N5X6;O43822;O43822-2	.;.;CU002_HUMAN;.	H	73;109;73;73	ENSP00000344566:R73H;ENSP00000381047:R73H;ENSP00000317302:R73H	ENSP00000317302:R73H	R	-	2	0	C21orf2	44577499	0.135000	0.22499	0.996000	0.52242	0.789000	0.44602	-0.042000	0.12063	0.587000	0.29643	-0.126000	0.14955	CGC		0.677	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195799.1	NM_004928		10	19	0	0	0	1	0	10	19					T	45753071	C	T	45753071	3	4	53	1	0	0	0	0	1	0	0	0	2125	768	27	1	568	1	C21orf2	21	45753071	Missense_Mutation	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08		45753071	2376824	66	9546										
CHEK2	11200	broad.mit.edu	37	chr22	29092971	29092971	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	gtataataccgttttcatgaAggtactacacagaaaggcag	9	7	1	2	rs374660293		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr22:29092971A>C	ENST00000405598.1	-	11	1204	c.1013T>G	c.(1012-1014)cTt>cGt	p.L338R	CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000348295.3_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.L381R|CHEK2_ENST00000382578.1_Missense_Mutation_p.L247R|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.L338R|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.L247R|CHEK2_ENST00000404276.1_Missense_Mutation_p.L338R|CHEK2_ENST00000544772.1_Missense_Mutation_p.L117R			O96017	CHK2_HUMAN	checkpoint kinase 2	338	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)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTTTTCATGAAGGTACTACAC	0.398			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			0				central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(349-351)cTt>cGt	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							112	95	101					22																	29092971		2203	4299	6502	SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29092971A>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1013T>G	22.37:g.29092971A>C	ENSP00000386087:p.Leu338Arg		Somatic				CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000348295.3_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.L338R|CHEK2_ENST00000382580.2_Missense_Mutation_p.L381R|CHEK2_ENST00000328354.6_Missense_Mutation_p.L338R|CHEK2_ENST00000403642.1_Missense_Mutation_p.L247R|CHEK2_ENST00000382578.1_Missense_Mutation_p.L247R|CHEK2_ENST00000402731.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.L338R	p.L117R	NM_001257387.1	NP_001244316.1	WXS	Illumina GAIIx	Phase_I	O96017	CHK2_HUMAN			11	1786	-			338		R -> G (in dbSNP:rs28909982).	FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.350T>G	CCDS13843.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.6|25.6	4.650279|4.650279	0.87958|0.87958	.|.	.|.	ENSG00000183765|ENSG00000183765	ENST00000434810|ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000447421;ENST00000425190	.|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;0.87	5.53|5.53	5.53|5.53	0.82687|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	D|D	0.86740|0.86740	0.6005|0.6005	H|H	0.98256|0.98256	4.185|4.185	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.999;1.0;1.0;1.0;0.999	D|D	0.91569|0.91569	0.5270|0.5270	5|10	.|0.87932	.|D	.|0	-9.1947|-9.1947	14.8342|14.8342	0.70169|0.70169	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|247;117;338;338;381	.|O96017-4;Q9HBS5;A8JZZ5;O96017;O96017-9	.|.;.;.;CHK2_HUMAN;.	V|R	82|247;117;338;338;338;381;247;271;117	.|ENSP00000372021:L247R;ENSP00000442458:L117R;ENSP00000329178:L338R;ENSP00000385747:L338R;ENSP00000386087:L338R;ENSP00000372023:L381R;ENSP00000384919:L247R;ENSP00000397478:L271R;ENSP00000390244:L117R	.|ENSP00000329178:L338R	F|L	-|-	1|2	0|0	CHEK2|CHEK2	27422971|27422971	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.315000|7.315000	0.78998|0.78998	2.089000|2.089000	0.63090|0.63090	0.455000|0.455000	0.32223|0.32223	TTC|CTT		0.398	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	12	0	0	0	1	0	6	12					C	29092971	A	C	29092971	3	2	53	1	0	0	0	0	1	0	0	0	3337	72	3	4	642	4	CHEK2	22	29092971	Missense_Mutation	SNP	A	TCGA-NF-A5CP-01A-12D-A28R-08		29092971	22211595	67	9547										
MAGEB2	4113	broad.mit.edu	37	chrX	30236752	30236752	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	gtgagaaacgccgcaaggccCgagatgagacccggggtctc	15	12	1	3			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:30236752C>T	ENST00000378988.4	+	2	156	c.55C>T	c.(55-57)Cga>Tga	p.R19*		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	19										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CCGCAAGGCCCGAGATGAGAC	0.547																																						ENST00000378988.4																			0				breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						c.(55-57)Cga>Tga		melanoma antigen family B, 2							38	37	37					X																	30236752		2202	4300	6502	SO:0001587	stop_gained	4113						protein binding	g.chrX:30236752C>T	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 6", "melanoma-associated antigen B2", "cancer/testis antigen family 3, member 2"	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.55C>T	X.37:g.30236752C>T	ENSP00000368273:p.Arg19*		Somatic					p.R19*	NM_002364.4	NP_002355.2	WXS	Illumina GAIIx	Phase_I	O15479	MAGB2_HUMAN			2	156	+			19					O75860	Nonsense_Mutation	SNP	ENST00000378988.4	37	c.55C>T	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639730	0.47153	.	.	ENSG00000099399	ENST00000378988	.	.	.	3.43	-1.28	0.09318	.	1.269310	0.05610	N	0.577923	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8067	0.46522	0.3683:0.6317:0.0:0.0	.	.	.	.	X	19	.	ENSP00000368273:R19X	R	+	1	2	MAGEB2	30146673	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.174000	0.16743	-0.407000	0.07576	0.513000	0.50165	CGA		0.547	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		18	26	0	0	0	1	0	18	26					T	30236752	C	T	30236752	4	4	53	1	0	0	0	0	0	1	0	0	9185	644	23	1	57	1	MAGEB2	23	30236752	Nonsense_Mutation	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08		30236752	125033808	68	9548										
DMD	1756	broad.mit.edu	37	chrX	31525450	31525450	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	ccacttgaagttcatgttatCcaaacgtctttgtaacagga	7	9	2	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:31525450C>G	ENST00000357033.4	-	56	8544	c.8338G>C	c.(8338-8340)Gat>Cat	p.D2780H	DMD_ENST00000378677.2_Missense_Mutation_p.D2776H|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000474231.1_Missense_Mutation_p.D320H|DMD_ENST00000343523.2_Missense_Mutation_p.D320H|DMD_ENST00000541735.1_Missense_Mutation_p.D320H|DMD_ENST00000359836.1_Missense_Mutation_p.D320H|DMD_ENST00000378707.3_Missense_Mutation_p.D320H	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	2780					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)				TTCATGTTATCCAAACGTCTT	0.413																																						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.(8338-8340)Gat>Cat		dystrophin							192	155	167					X																	31525450		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:31525450C>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.8338G>C	X.37:g.31525450C>G	ENSP00000354923:p.Asp2780His		Somatic				DMD_ENST00000378707.3_Missense_Mutation_p.D320H|DMD_ENST00000474231.1_Missense_Mutation_p.D320H|DMD_ENST00000378677.2_Missense_Mutation_p.D2776H|DMD_ENST00000343523.2_Missense_Mutation_p.D320H|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000541735.1_Missense_Mutation_p.D320H|DMD_ENST00000359836.1_Missense_Mutation_p.D320H	p.D2780H	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	WXS	Illumina GAIIx	Phase_I	P11532	DMD_HUMAN			56	8544	-		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)	2780					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.8338G>C	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.64|18.64	3.666731|3.666731	0.67814|0.67814	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.37584|.	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.38164|.	U|.	0.001785|.	T|T	0.78842|0.78842	0.4347|0.4347	M|M	0.80982|0.80982	2.52|2.52	0.58432|0.58432	D|D	0.999999|0.999999	P;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.822;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	P;D;D;D;D;D;D;D;D;D;D|.	0.91635|.	0.789;0.993;0.999;0.997;0.998;0.996;0.997;0.997;0.996;0.994;0.993|.	T|T	0.79654|0.79654	-0.1713|-0.1713	10|5	0.62326|.	D|.	0.03|.	.|.	18.6187|18.6187	0.91313|0.91313	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2772;2780;2776;1439;1436;320;320;320;320;320;2657|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.|.	H|A	2772;1439;1436;476;2776;2780;320;320;2780;2657;320;320;320|508	ENSP00000350765:D476H;ENSP00000367948:D2776H;ENSP00000354923:D2780H;ENSP00000352894:D320H;ENSP00000340057:D320H;ENSP00000367979:D320H;ENSP00000444119:D320H;ENSP00000417123:D320H|.	ENSP00000340057:D320H|.	D|G	-|-	1|2	0|0	DMD|DMD	31435371|31435371	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.994000|4.994000	0.63901|0.63901	2.340000|2.340000	0.79590|0.79590	0.594000|0.594000	0.82650|0.82650	GAT|GGA		0.413	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		20	27	0	0	0	1	0	20	27					G	31525450	C	G	31525450	3	3	53	1	0	0	0	0	1	0	0	0	4582	855	30	2	2929	2	DMD	23	31525450	Missense_Mutation	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08	1288698	31525450	123745110	69	9549										
AKAP4	8852	broad.mit.edu	37	chrX	49958838	49958838	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	agctgctgtcatttctagacGtaggttttgaggtctgttca	11	7	4	2			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:49958838G>A	ENST00000376056.2	-	5	649	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C	AKAP4_ENST00000376064.3_Missense_Mutation_p.R167C|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.R167C|AKAP4_ENST00000358526.2_Missense_Mutation_p.R176C					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ATTTCTAGACGTAGGTTTTGA	0.448																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(499-501)Cgt>Tgt		A kinase (PRKA) anchor protein 4							270	234	247					X																	49958838		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49958838G>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.499C>T	X.37:g.49958838G>A	ENSP00000365224:p.Arg167Cys		Somatic				AKAP4_ENST00000376064.3_Missense_Mutation_p.R167C|AKAP4_ENST00000358526.2_Missense_Mutation_p.R176C|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.R167C	p.R167C			WXS	Illumina GAIIx	Phase_I	Q5JQC9	AKAP4_HUMAN			5	649	-	Ovarian(276;0.236)		176						Missense_Mutation	SNP	ENST00000376056.2	37	c.499C>T	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	G	1.413	-0.574953	0.03882	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865;ENST00000437370	T;T;T;T;T;T	0.45668	2.55;1.37;2.55;2.55;0.89;1.31	4.7	1.75	0.24633	.	0.376759	0.19421	N	0.114692	T	0.29652	0.0740	L	0.51422	1.61	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.09377	0.001;0.004	T	0.16808	-1.0390	9	.	.	.	-1.0483	3.2939	0.06958	0.2289:0.0:0.567:0.2041	.	176;167	Q5JQC9;A6ND82	AKAP4_HUMAN;.	C	167;167;176;167;167;167	ENSP00000365224:R167C;ENSP00000365226:R167C;ENSP00000351327:R176C;ENSP00000365232:R167C;ENSP00000402403:R167C;ENSP00000412279:R167C	.	R	-	1	0	AKAP4	49845578	0.001000	0.12720	0.000000	0.03702	0.072000	0.16883	0.883000	0.28200	0.279000	0.22186	0.292000	0.19580	CGT		0.448	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		49	90	0	0	0	1	0	49	90					A	49958838	G	A	49958838	3	1	53	1	0	0	0	0	1	0	0	0	453	1145	40	1	2046	1	AKAP4	23	49958838	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	18433388	49958838	105311722	70	9550										
MED12	9968	broad.mit.edu	37	chrX	70338671	70338671	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	ggccgcggctggggcctcccGatgtttaccctcaggacccc	13	17	1	0			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:70338671G>T	ENST00000374080.3	+	1	99	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	MED12_ENST00000333646.6_Missense_Mutation_p.D23Y|MED12_ENST00000374102.1_Missense_Mutation_p.D23Y			Q93074	MED12_HUMAN	mediator complex subunit 12	23					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.D23Y(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)					GGGGCCTCCCGATGTTTACCC	0.677			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		2	Substitution - Missense(2)	p.D23Y(2)	endometrium(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.(67-69)Gat>Tat		mediator complex subunit 12							13	14	14					X																	70338671		1798	4039	5837	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:70338671G>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.67G>T	X.37:g.70338671G>T	ENSP00000363193:p.Asp23Tyr		Somatic				MED12_ENST00000374102.1_Missense_Mutation_p.D23Y|MED12_ENST00000374080.3_Missense_Mutation_p.D23Y	p.D23Y	NM_005120.2	NP_005111.2	WXS	Illumina GAIIx	Phase_I	Q93074	MED12_HUMAN			1	266	+	Renal(35;0.156)		23					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.67G>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	31	5.063784	0.93898	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080	T;T;T	0.73363	-0.74;-0.72;-0.73	4.13	4.13	0.48395	.	0.000000	0.64402	D	0.000001	D	0.84705	0.5531	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.87205	0.2243	10	0.87932	D	0	-12.2737	16.5123	0.84289	0.0:0.0:1.0:0.0	.	23;23;23	F5H3Y1;Q93074-3;Q93074	.;.;MED12_HUMAN	Y	23	ENSP00000333125:D23Y;ENSP00000363215:D23Y;ENSP00000363193:D23Y	ENSP00000333125:D23Y	D	+	1	0	MED12	70255396	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.367000	0.90113	2.007000	0.58848	0.431000	0.28591	GAT		0.677	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		16	24	1	0	0.000566183	1	0.000585485	16	24					T	70338671	G	T	70338671	3	4	53	1	0	0	0	0	1	0	0	0	9437	1058	37	2	69	2	MED12	23	70338671	Missense_Mutation	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	20379833	70338671	84931889	71	9551										
NAP1L2	4674	broad.mit.edu	37	chrX	72433770	72433770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	taccataccctcctcattacCatacatctcttcatgacaca	1	16	3	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:72433770C>T	ENST00000373517.3	-	1	914	c.559G>A	c.(559-561)Ggt>Agt	p.G187S	NAP1L2_ENST00000536638.1_Missense_Mutation_p.G45S	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	187	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.G187S(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCCTCATTACCATACATCTCT	0.408																																						ENST00000373517.3																			1	Substitution - Missense(1)	p.G187S(1)	kidney(1)	NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(559-561)Ggt>Agt		nucleosome assembly protein 1-like 2							181	150	160					X																	72433770		2203	4300	6503	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433770C>T	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.559G>A	X.37:g.72433770C>T	ENSP00000362616:p.Gly187Ser		Somatic				NAP1L2_ENST00000536638.1_Missense_Mutation_p.G45S	p.G187S	NM_021963.3	NP_068798.1	WXS	Illumina GAIIx	Phase_I	Q9ULW6	NP1L2_HUMAN			1	914	-	Renal(35;0.156)		187			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.559G>A	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	c	9.446	1.089216	0.20390	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	T;T	0.50277	1.0;0.75	3.1	1.31	0.21738	.	0.723745	0.11254	U	0.583319	T	0.36303	0.0962	L	0.55481	1.735	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.28870	-1.0030	10	0.18710	T	0.47	-0.3023	4.5631	0.12170	0.0:0.6767:0.0:0.3233	.	187	Q9ULW6	NP1L2_HUMAN	S	187;45	ENSP00000362616:G187S;ENSP00000441555:G45S	ENSP00000362616:G187S	G	-	1	0	NAP1L2	72350495	0.003000	0.15002	0.011000	0.14972	0.856000	0.48823	0.116000	0.15561	0.213000	0.20722	-0.198000	0.12761	GGT		0.408	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		9	81	0	0	0	1	0	9	81					T	72433770	C	T	72433770	3	4	53	1	0	0	0	0	1	0	0	0	10166	594	21	3	827	3	NAP1L2	23	72433770	Missense_Mutation	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08	2095099	72433770	82836790	72	9552										
P2RY10	27334	broad.mit.edu	37	chrX	78216443	78216443	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	ctcaagcccttcagggccagAgactggaagcgtaggtacga	13	11	2	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:78216443A>T	ENST00000171757.2	+	4	706	c.426A>T	c.(424-426)agA>agT	p.R142S	P2RY10_ENST00000544091.1_Missense_Mutation_p.R142S|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	142						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						TCAGGGCCAGAGACTGGAAGC	0.498																																						ENST00000171757.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(424-426)agA>agT		purinergic receptor P2Y, G-protein coupled, 10							105	95	98					X																	78216443		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216443A>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.426A>T	X.37:g.78216443A>T	ENSP00000171757:p.Arg142Ser		Somatic				P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Missense_Mutation_p.R142S	p.R142S	NM_014499.2	NP_055314.1	WXS	Illumina GAIIx	Phase_I	O00398	P2Y10_HUMAN			4	706	+			142					D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.426A>T	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	A	6.064	0.380039	0.11466	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.72051	-0.62;-0.62	4.73	0.788	0.18601	GPCR, rhodopsin-like superfamily (1);	0.117908	0.51477	D	0.000089	T	0.58090	0.2098	M	0.62154	1.92	0.27539	N	0.950864	B	0.26318	0.146	B	0.29353	0.101	T	0.40720	-0.9548	10	0.10111	T	0.7	.	4.6658	0.12664	0.5707:0.156:0.2733:0.0	.	142	O00398	P2Y10_HUMAN	S	142	ENSP00000443138:R142S;ENSP00000171757:R142S	ENSP00000171757:R142S	R	+	3	2	P2RY10	78103099	0.855000	0.29742	0.872000	0.34217	0.033000	0.12548	1.149000	0.31626	0.201000	0.20466	-0.545000	0.04230	AGA		0.498	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			9	98	0	0	0	1	0	9	98					T	78216443	A	T	78216443	3	4	53	1	0	0	0	0	1	0	0	0	11356	301	11	4	428	4	P2RY10	23	78216443	Missense_Mutation	SNP	A	TCGA-NF-A5CP-01A-12D-A28R-08	5782673	78216443	77054117	73	9553										
ESX1	80712	broad.mit.edu	37	chrX	103497474	103497474	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	atttactgacctgcactctgTcttcagtcaaattcaggcgt	7	11	5	1	rs201519494		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:103497474T>A	ENST00000372588.4	-	3	625	c.542A>T	c.(541-543)gAc>gTc	p.D181V		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	181					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CTGCACTCTGTCTTCAGTCAA	0.393																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(541-543)gAc>gTc		ESX homeobox 1							228	212	218					X																	103497474		2203	4300	6503	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103497474T>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.542A>T	X.37:g.103497474T>A	ENSP00000361669:p.Asp181Val		Somatic					p.D181V	NM_153448.3	NP_703149.1	WXS	Illumina GAIIx	Phase_I	Q8N693	ESX1_HUMAN			3	625	-			181					B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.542A>T	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	T	6.447	0.450555	0.12223	.	.	ENSG00000123576	ENST00000372588	D	0.96200	-3.94	4.79	-2.11	0.07187	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);Homeobox, conserved site (1);	.	.	.	.	D	0.88887	0.6559	L	0.38175	1.15	0.09310	N	0.999999	B	0.27351	0.176	B	0.30495	0.116	T	0.77638	-0.2513	9	0.11485	T	0.65	-0.0045	3.1253	0.06405	0.0924:0.3948:0.2258:0.2871	.	181	Q8N693	ESX1_HUMAN	V	181	ENSP00000361669:D181V	ENSP00000361669:D181V	D	-	2	0	ESX1	103384130	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	0.019000	0.13444	-0.341000	0.08376	-0.275000	0.10095	GAC		0.393	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		64	136	0	0	0	1	0	64	136					A	103497474	T	A	103497474	3	1	53	1	0	0	0	0	1	0	0	0	5265	1667	58	4	686	4	ESX1	23	103497474	Missense_Mutation	SNP	T	TCGA-NF-A5CP-01A-12D-A28R-08	25281031	103497474	51773086	74	9554										
ACSL4	2182	broad.mit.edu	37	chrX	108911498	108911498	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	ggccttgacctttttaaacaGtaaccttaataaagggagga	9	7	0	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:108911498G>A	ENST00000469796.2	-	11	1666	c.1270C>T	c.(1270-1272)Ctg>Ttg	p.L424L	ACSL4_ENST00000348502.6_Silent_p.L383L|ACSL4_ENST00000340800.2_Silent_p.L424L			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	424					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	TTTTTAAACAGTAACCTTAAT	0.438																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(1270-1272)Ctg>Ttg		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						60	54	56					X																	108911498		2203	4300	6503	SO:0001819	synonymous_variant	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108911498G>A	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1270C>T	X.37:g.108911498G>A			Somatic				ACSL4_ENST00000348502.6_Silent_p.L383L|ACSL4_ENST00000469796.2_Silent_p.L424L	p.L424L	NM_022977.2	NP_075266.1	WXS	Illumina GAIIx	Phase_I	O60488	ACSL4_HUMAN			12	1774	-			424					D3DUY2|O60848|O60849|Q5JWV8	Silent	SNP	ENST00000469796.2	37	c.1270C>T	CCDS14548.1																																																																																				0.438	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		35	36	0	0	0	1	0	35	36					A	108911498	G	A	108911498	2	1	53	1	0	0	0	0	0	0	0	1	179	1020	36	3		3	ACSL4	23	108911498	Silent	SNP	G	TCGA-NF-A5CP-01A-12D-A28R-08	5414024	108911498	46359062	75	9555										
MAGEA12	4111	broad.mit.edu	37	chrX	151899865	151899865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	cgtgctcagactcactcttcCccctctctaaaagcccattc	4	18	4	1			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:151899865C>T	ENST00000357916.4	-	2	1091	c.936G>A	c.(934-936)ggG>ggA	p.G312G	MAGEA12_ENST00000393900.3_Silent_p.G312G|MAGEA12_ENST00000393869.3_Silent_p.G312G|CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	312										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTCACTCTTCCCCCTCTCTAA	0.547																																						ENST00000393900.3																			0				breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(934-936)ggG>ggA		melanoma antigen family A, 12							123	120	121					X																	151899865		2203	4300	6503	SO:0001819	synonymous_variant	4111							g.chrX:151899865C>T		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"cancer/testis antigen family 1, member 12"	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.936G>A	X.37:g.151899865C>T			Somatic				CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.G312G|MAGEA12_ENST00000357916.4_Silent_p.G312G	p.G312G	NM_001166386.1	NP_001159858.1	WXS	Illumina GAIIx	Phase_I	P43365	MAGAC_HUMAN			3	1289	-	Acute lymphoblastic leukemia(192;6.56e-05)		312					Q9NSD3	Silent	SNP	ENST00000357916.4	37	c.936G>A	CCDS14710.1																																																																																				0.547	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		80	102	0	0	0	1	0	80	102					T	151899865	C	T	151899865	2	4	53	1	0	0	0	0	0	0	0	1	9175	610	22	3		3	MAGEA12	23	151899865	Silent	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08	42988367	151899865	3370695	76	9556										
ARHGAP4	393	broad.mit.edu	37	chrX	153175625	153175625	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.025974025974026	2	1	0.291206835172659	1.54339622641509	0	0.333333333333333	1	0	cggcagcaccaagggtgtacCccaggcagctggcggaaggc	16	13	0	0			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:153175625C>T	ENST00000350060.5	-	17	2197	c.2156G>A	c.(2155-2157)gGg>gAg	p.G719E	ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000370028.3_Splice_Site_p.G759E|ARHGAP4_ENST00000393721.1_Splice_Site_p.G541E|ARHGAP4_ENST00000537206.1_Splice_Site_p.G696E|ARHGAP4_ENST00000370016.1_Splice_Site_p.G698E	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	719					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGGGTGTACCCCAGGCAGCT	0.677																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.e18+1		Rho GTPase activating protein 4							22	25	24					X																	153175625		2199	4292	6491	SO:0001630	splice_region_variant	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153175625C>T	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.2156+1G>A	X.37:g.153175625C>T			Somatic				ARHGAP4_ENST00000370016.1_Splice_Site_p.G698_splice|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000350060.5_Splice_Site_p.G719_splice|ARHGAP4_ENST00000393721.1_Splice_Site_p.G541_splice|ARHGAP4_ENST00000537206.1_Splice_Site_p.G696_splice	p.G759_splice	NM_001164741.1	NP_001158213.1	WXS	Illumina GAIIx	Phase_I	P98171	RHG04_HUMAN			18	2333	-	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)		719			SH3.		Q14144|Q86UY3	Splice_Site	SNP	ENST00000350060.5	37	c.2276_splice	CCDS14736.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.38|14.38	2.518357|2.518357	0.44763|0.44763	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206|ENST00000442172	T;T;T;T;T|T	0.10005|0.05580	2.94;2.94;2.94;2.92;2.94|3.42	4.35|4.35	2.51|2.51	0.30379|0.30379	Src homology-3 domain (1);|.	0.184105|0.184105	0.26642|0.26642	N|N	0.023242|0.023242	T|T	0.12390|0.12390	0.0301|0.0301	M|M	0.73962|0.73962	2.25|2.25	0.24709|0.24709	N|N	0.993215|0.993215	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.63877|.	0.919;0.919|.	T|T	0.04140|0.04140	-1.0974|-1.0974	9|7	.|.	.|.	.|.	.|.	6.6875|6.6875	0.23154|0.23154	0.0:0.7496:0.0:0.2504|0.0:0.7496:0.0:0.2504	.|.	759;719|.	Q86UY3;P98171|.	.;RHG04_HUMAN|.	E|R	541;759;719;698;696|208	ENSP00000377322:G541E;ENSP00000359045:G759E;ENSP00000203786:G719E;ENSP00000359033:G698E;ENSP00000444169:G696E|ENSP00000408656:G208R	.|.	G|G	-|-	2|1	0|0	ARHGAP4|ARHGAP4	152828819|152828819	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.642000|0.642000	0.38348|0.38348	1.963000|1.963000	0.40452|0.40452	0.779000|0.779000	0.33543|0.33543	0.592000|0.592000	0.82586|0.82586	GGG|GGG		0.677	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666	Missense_Mutation	26	26	0	0	0	1	0	26	26					T	153175625	C	T	153175625	5	4	53	1	0	0	0	0	0	0	1	0	885	637	22	3	708	3	ARHGAP4	23	153175625	Splice_Site	SNP	C	TCGA-NF-A5CP-01A-12D-A28R-08	1275760	153175625	2094935	77	9557										
CROCC	9696	broad.mit.edu	37	chr1	17270624	17270624	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	caacctggcccacagcctgcAggtggcccagcagcaggccg	13	17	0	0			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:17270624A>G	ENST00000375541.5	+	14	1907	c.1838A>G	c.(1837-1839)cAg>cGg	p.Q613R	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)		CACAGCCTGCAGGTGGCCCAG	0.697																																						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.(1837-1839)cAg>cGg		ciliary rootlet coiled-coil, rootletin																																				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.chr1:17270624A>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.1838A>G	1.37:g.17270624A>G	ENSP00000364691:p.Gln613Arg		Somatic				CROCC_ENST00000467938.1_3'UTR	p.Q613R	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)	14	1907	+		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)	613						Missense_Mutation	SNP	ENST00000375541.5	37	c.1838A>G	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.109073	0.56398	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10860	2.83	4.48	4.48	0.54585	.	.	.	.	.	T	0.23532	0.0569	M	0.74881	2.28	0.41978	D	0.990783	D;B	0.60575	0.988;0.449	P;B	0.58721	0.844;0.202	T	0.03103	-1.1072	9	0.23302	T	0.38	.	9.4228	0.38561	0.8405:0.0:0.0:0.1595	.	476;613	A1L0S8;Q5TZA2	.;CROCC_HUMAN	R	613;494	ENSP00000364691:Q613R	ENSP00000364691:Q613R	Q	+	2	0	CROCC	17143211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.166000	0.58203	1.968000	0.57251	0.459000	0.35465	CAG		0.697	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		3	13	0	0	0	1	0	3	13					G	17270624	A	G	17270624	3	3	54	1	0	0	0	0	1	0	0	0	3895	188	7	4	1892	4	CROCC	1	17270624	Missense_Mutation	SNP	A	TCGA-NG-A4VU-01A-11D-A28R-08		17270624	231979997	1	9558										
COL11A1	1301	broad.mit.edu	37	chr1	103453188	103453188	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	aatttaaagtcatttaccaaCcttttctcctgcttgacctg	4	11	2	1			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:103453188C>A	ENST00000370096.3	-	30	2815		c.e30+1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000358392.2_Splice_Site|COL11A1_ENST00000512756.1_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)		CATTTACCAACCTTTTCTCCT	0.438																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.e30+1		collagen, type XI, alpha 1							82	78	80					1																	103453188		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.chr1:103453188C>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.2502+1G>T	1.37:g.103453188C>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)	30	2856	-		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	13.79	2.341892	0.41498	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.507	0.87748	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103225776	1.000000	0.71417	0.985000	0.45067	0.247000	0.25773	6.819000	0.75262	2.417000	0.82017	0.460000	0.39030	.		0.438	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Intron	8	26	1	0	0.0381472	1	0.0387625	8	26					A	103453188	C	A	103453188	5	1	54	1	0	0	0	0	0	0	1	0	3669	521	18	5	3069	5	COL11A1	1	103453188	Splice_Site	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08	86182564	103453188	145797433	2	9559										
NBPF10	100132406	broad.mit.edu	37	chr1	145293414	145293414	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	acaaacgtcagcatggtggtAtcagccggcccttggtccag	12	12	2	0			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:145293414A>G	ENST00000369339.3	+	3	262	c.9A>G	c.(7-9)gtA>gtG	p.V3V	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.V3V			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	274						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)		GCATGGTGGTATCAGCCGGCC	0.493																																						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.(7-9)gtA>gtG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145293414A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.9A>G	1.37:g.145293414A>G			Somatic				NBPF10_ENST00000369339.2_Silent_p.V3V|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron	p.V3V	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)	1	44	+	all_hematologic(923;0.032)		3					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.9A>G																																																																																					0.493	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		45	1300	0	0	0	1	0	45	1300					G	145293414	A	G	145293414	2	3	54	1	0	0	0	0	0	0	0	1	10202	436	16	4		4	NBPF10	1	145293414	Silent	SNP	A	TCGA-NG-A4VU-01A-11D-A28R-08	41840226	145293414	103957207	3	9560										
ATP8B2	57198	broad.mit.edu	37	chr1	154315408	154315408	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	ccgcctcctttccctgtgtcAtactgtcatgtcagaagaaa	7	13	3	2			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:154315408A>G	ENST00000368489.3	+	15	1523	c.1523A>G	c.(1522-1524)cAt>cGt	p.H508R		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	494					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)			TCCCTGTGTCATACTGTCATG	0.572																																						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.(1522-1524)cAt>cGt		ATPase, aminophospholipid transporter, class I, type 8B, member 2							34	37	36					1																	154315408		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.chr1:154315408A>G	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.1523A>G	1.37:g.154315408A>G	ENSP00000357475:p.His508Arg		Somatic					p.H508R	NM_020452.3	NP_065185.1	WXS	Illumina GAIIx	Phase_I	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		15	1523	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		494					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.1523A>G	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.534926	0.85812	.	.	ENSG00000143515	ENST00000368489	D	0.82167	-1.58	5.39	4.23	0.50019	.	0.051412	0.85682	N	0.000000	D	0.94079	0.8102	H	0.99525	4.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95032	0.8170	10	0.87932	D	0	.	10.926	0.47191	0.925:0.0:0.075:0.0	.	508	P98198-3	.	R	508	ENSP00000357475:H508R	ENSP00000357475:H508R	H	+	2	0	ATP8B2	152582032	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	7.283000	0.78640	2.266000	0.75297	0.533000	0.62120	CAT		0.572	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		46	56	0	0	0	1	0	46	56					G	154315408	A	G	154315408	3	3	54	1	0	0	0	0	1	0	0	0	1195	217	8	4	1711	4	ATP8B2	1	154315408	Missense_Mutation	SNP	A	TCGA-NG-A4VU-01A-11D-A28R-08	9021994	154315408	94935213	4	9561										
PIGR	5284	broad.mit.edu	37	chr1	207110846	207110846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	cagagatactgcccagcatcGctgagcctgagttggttgat	12	10	0	4			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:207110846G>A	ENST00000356495.4	-	4	822	c.639C>T	c.(637-639)agC>agT	p.S213S		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	213	Ig-like V-type 2.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCCCAGCATCGCTGAGCCTGA	0.483																																						ENST00000356495.4																			0				central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(637-639)agC>agT		polymeric immunoglobulin receptor							71	68	69					1																	207110846		2203	4300	6503	SO:0001819	synonymous_variant	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207110846G>A		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.639C>T	1.37:g.207110846G>A			Somatic					p.S213S	NM_002644.3	NP_002635.2	WXS	Illumina GAIIx	Phase_I	P01833	PIGR_HUMAN			4	822	-			213			Ig-like V-type 2.		Q68D81|Q8IZY7	Silent	SNP	ENST00000356495.4	37	c.639C>T	CCDS1474.1																																																																																				0.483	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		23	68	0	0	0	1	0	23	68					A	207110846	G	A	207110846	2	1	54	1	0	0	0	0	0	0	0	1	11906	1078	38	1		1	PIGR	1	207110846	Silent	SNP	G	TCGA-NG-A4VU-01A-11D-A28R-08	52795438	207110846	42139775	5	9562										
HEATR5B	54497	broad.mit.edu	37	chr2	37230808	37230808	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	tagaaggcggtgcaaaacacTcagcaactcaacacctatca	7	12	3	1			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr2:37230808T>C	ENST00000233099.5	-	31	5022	c.4927A>G	c.(4927-4929)Agt>Ggt	p.S1643G	HEATR5B_ENST00000354531.2_Missense_Mutation_p.S1643G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1643						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)				TGCAAAACACTCAGCAACTCA	0.343																																						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.(4927-4929)Agt>Ggt		HEAT repeat containing 5B							66	62	64					2																	37230808		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37230808T>C	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.4927A>G	2.37:g.37230808T>C	ENSP00000233099:p.Ser1643Gly		Somatic				HEATR5B_ENST00000354531.2_Missense_Mutation_p.S1643G	p.S1643G	NM_019024.1	NP_061897.1	WXS	Illumina GAIIx	Phase_I	Q9P2D3	HTR5B_HUMAN			31	5022	-		all_hematologic(82;0.21)	1643					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.4927A>G	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.290902	0.59976	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.47869	0.83;0.83	5.51	5.51	0.81932	Armadillo-type fold (1);	0.227157	0.52532	D	0.000065	T	0.37972	0.1023	N	0.19112	0.55	0.41493	D	0.988239	B	0.15930	0.015	B	0.25405	0.06	T	0.23119	-1.0197	10	0.56958	D	0.05	-6.0999	15.9209	0.79570	0.0:0.0:0.0:1.0	.	1643	Q9P2D3	HTR5B_HUMAN	G	1643	ENSP00000233099:S1643G;ENSP00000346531:S1643G	ENSP00000233099:S1643G	S	-	1	0	HEATR5B	37084312	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.267000	0.78462	2.210000	0.71456	0.533000	0.62120	AGT		0.343	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		14	29	0	0	0	1	0	14	29					C	37230808	T	C	37230808	3	2	54	1	0	0	0	0	1	0	0	0	7041	1551	54	4	1312	4	HEATR5B	2	37230808	Missense_Mutation	SNP	T	TCGA-NG-A4VU-01A-11D-A28R-08		37230808	205968565	6	9563										
TET3	200424	broad.mit.edu	37	chr2	74329129	74329129	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	ctgggccagcaggaggccaaGctctacgggaagaagcgcaa	15	11	1	1			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr2:74329129G>C	ENST00000409262.3	+	9	4809	c.4809G>C	c.(4807-4809)aaG>aaC	p.K1603N		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1603					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGAGGCCAAGCTCTACGGGA	0.687																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(4807-4809)aaG>aaC		tet methylcytosine dioxygenase 3							12	16	14					2																	74329129		2021	4157	6178	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74329129G>C		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4809G>C	2.37:g.74329129G>C	ENSP00000386869:p.Lys1603Asn		Somatic					p.K1603N	NM_144993.1	NP_659430.1	WXS	Illumina GAIIx	Phase_I	O43151	TET3_HUMAN			9	4809	+			1603					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.4809G>C	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503536	0.26949	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.15256	2.44	5.18	4.29	0.51040	.	0.052219	0.85682	D	0.000000	T	0.12817	0.0311	L	0.52905	1.665	0.53005	D	0.999962	P	0.47191	0.891	B	0.36418	0.224	T	0.01688	-1.1295	10	0.29301	T	0.29	.	7.2948	0.26387	0.2345:0.0:0.7655:0.0	.	1603	O43151	TET3_HUMAN	N	1603;1487	ENSP00000386869:K1603N	ENSP00000233310:K1487N	K	+	3	2	TET3	74182637	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.416000	0.59815	2.707000	0.92482	0.655000	0.94253	AAG		0.687	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			16	23	0	0	0	1	0	16	23					C	74329129	G	C	74329129	3	2	54	1	0	0	0	0	1	0	0	0	15786	962	34	5	4843	5	TET3	2	74329129	Missense_Mutation	SNP	G	TCGA-NG-A4VU-01A-11D-A28R-08	37098321	74329129	168870244	7	9564										
THSD7B	80731	broad.mit.edu	37	chr2	137917826	137917826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	ttatgtgtgggacccgccccGttgccctctcagctctgcaa	10	15	2	0	rs376181717		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr2:137917826G>A	ENST00000409968.1	+	6	1591	c.1413G>A	c.(1411-1413)ccG>ccA	p.P471P	THSD7B_ENST00000413152.2_Silent_p.P440P|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.P471P			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	471	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACCCGCCCCGTTGCCCTCTC	0.512																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(1411-1413)ccG>ccA		thrombospondin, type I, domain containing 7B		G		1,4039		0,1,2019	166	165	165		1320	-1	0	2		165	0,8336		0,0,4168	no	coding-synonymous	THSD7B	NM_001080427.1		0,1,6187	AA,AG,GG		0.0,0.0248,0.0081		440/1578	137917826	1,12375	2020	4168	6188	SO:0001819	synonymous_variant	80731							g.chr2:137917826G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1413G>A	2.37:g.137917826G>A			Somatic				THSD7B_ENST00000413152.2_Silent_p.P440P|THSD7B_ENST00000272643.3_Silent_p.P471P|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron	p.P471P			WXS	Illumina GAIIx	Phase_I				BRCA - Breast invasive adenocarcinoma(221;0.19)	6	1591	+									Silent	SNP	ENST00000409968.1	37	c.1413G>A																																																																																					0.512	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		39	48	0	0	0	1	0	39	48					A	137917826	G	A	137917826	2	1	54	1	0	0	0	0	0	0	0	1	15895	1132	40	1		1	THSD7B	2	137917826	Silent	SNP	G	TCGA-NG-A4VU-01A-11D-A28R-08	63588697	137917826	105281547	8	9565										
ITPR1	3708	broad.mit.edu	37	chr3	4716886	4716886	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	ttccccattagcaagatggcGaaaggagaagagaataaagg	12	6	0	3	rs562572079		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr3:4716886G>A	ENST00000443694.2	+	20	2688	c.2688G>A	c.(2686-2688)gcG>gcA	p.A896A	ITPR1_ENST00000354582.6_Silent_p.A911A|ITPR1_ENST00000423119.2_Silent_p.A911A|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Silent_p.A896A|ITPR1_ENST00000357086.4_Silent_p.A911A|ITPR1_ENST00000456211.2_Silent_p.A896A			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	911					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)	GCAAGATGGCGAAAGGAGAAG	0.443																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(2731-2733)gcG>gcA		inositol 1,4,5-trisphosphate receptor, type 1							132	122	125					3																	4716886		1947	4140	6087	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4716886G>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.2688G>A	3.37:g.4716886G>A			Somatic				ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Silent_p.A911A|ITPR1_ENST00000443694.2_Silent_p.A896A|ITPR1_ENST00000456211.2_Silent_p.A896A|ITPR1_ENST00000302640.8_Silent_p.A896A|ITPR1_ENST00000423119.2_Silent_p.A911A	p.A911A			WXS	Illumina GAIIx	Phase_I	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	23	3083	+			911					E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.2733G>A	CCDS54551.1																																																																																				0.443	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		25	38	0	0	0	1	0	25	38					A	4716886	G	A	4716886	2	1	54	1	0	0	0	0	0	0	0	1	7929	1045	37	1		1	ITPR1	3	4716886	Silent	SNP	G	TCGA-NG-A4VU-01A-11D-A28R-08		4716886	193305544	9	9566										
OXTR	5021	broad.mit.edu	37	chr3	8809318	8809318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	gatgaagacggcccagcagtCgaagacgccgtcagccacct	12	14	1	3			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr3:8809318C>T	ENST00000316793.3	-	3	1180	c.556G>A	c.(556-558)Gac>Aac	p.D186N	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	186					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)	GCCCAGCAGTCGAAGACGCCG	0.662																																						ENST00000316793.3																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13						c.(556-558)Gac>Aac		oxytocin receptor	Carbetocin(DB01282)						49	52	51					3																	8809318		2203	4300	6503	SO:0001583	missense	5021				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	g.chr3:8809318C>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.556G>A	3.37:g.8809318C>T	ENSP00000324270:p.Asp186Asn		Somatic				CAV3_ENST00000472766.1_Intron	p.D186N	NM_000916.3	NP_000907.2	WXS	Illumina GAIIx	Phase_I	P30559	OXYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.15)	3	1180	-			186					Q15071	Missense_Mutation	SNP	ENST00000316793.3	37	c.556G>A	CCDS2570.1	.	.	.	.	.	.	.	.	.	.	C	36	5.714913	0.96830	.	.	ENSG00000180914	ENST00000316793	T	0.36699	1.24	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63803	0.2542	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67898	-0.5551	10	0.62326	D	0.03	-46.8891	17.4792	0.87668	0.0:1.0:0.0:0.0	.	186	P30559	OXYR_HUMAN	N	186	ENSP00000324270:D186N	ENSP00000324270:D186N	D	-	1	0	OXTR	8784318	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.688000	0.84153	2.466000	0.83321	0.561000	0.74099	GAC		0.662	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			32	31	0	0	0	1	0	32	31					T	8809318	C	T	8809318	3	4	54	1	0	0	0	0	1	0	0	0	11347	884	31	1	621	1	OXTR	3	8809318	Missense_Mutation	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08	4092432	8809318	189213112	10	9567										
FBXW7	55294	broad.mit.edu	37	chr4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	gccatcatattgaacacagcGgactgctgcaacatgaccca	8	13	1	2	rs149680468		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		139	Substitution - Missense(138)|Unknown(1)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1513-1515)Cgc>Ggc		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							167	156	160					4																	153247289		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247289G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly		Somatic				FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G	p.R505G	NM_033632.3	NP_361014.1	WXS	Illumina GAIIx	Phase_I	Q969H0	FBXW7_HUMAN			10	2742	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1513C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			36	44	0	0	0	1	0	36	44					C	153247289	G	C	153247289	3	2	54	1	0	0	0	0	1	0	0	0	5777	1116	39	5	622	5	FBXW7	4	153247289	Missense_Mutation	SNP	G	TCGA-NG-A4VU-01A-11D-A28R-08		153247289	37906987	11	9568										
PALLD	23022	broad.mit.edu	37	chr4	169825035	169825035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	agatgatgatgggaattataCaattatggctgcaaaccctc	9	7	0	3			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr4:169825035C>T	ENST00000505667.1	+	15	2773	c.2600C>T	c.(2599-2601)aCa>aTa	p.T867I	PALLD_ENST00000335742.7_Missense_Mutation_p.T692I|PALLD_ENST00000261509.6_Missense_Mutation_p.T850I|PALLD_ENST00000512127.1_Missense_Mutation_p.T468I|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000507735.1_Missense_Mutation_p.T363I			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1074	Interaction with ACTN.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GGGAATTATACAATTATGGCT	0.443									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000335742.7																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(2074-2076)aCa>aTa		palladin, cytoskeletal associated protein							103	105	104					4																	169825035		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169825035C>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2600C>T	4.37:g.169825035C>T	ENSP00000425556:p.Thr867Ile		Somatic				PALLD_ENST00000512127.1_Missense_Mutation_p.T468I|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000505667.1_Missense_Mutation_p.T867I|PALLD_ENST00000507735.1_Missense_Mutation_p.T363I|PALLD_ENST00000261509.6_Missense_Mutation_p.T850I	p.T692I			WXS	Illumina GAIIx	Phase_I	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	15	3432	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	1074			Interaction with ARGBP2, SPIN90 and SRC.|Pro-rich.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.2075C>T	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829776	0.71258	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000393726;ENST00000507735	T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;1.36;-0.89	5.36	5.36	0.76844	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32901	U	0.005515	D	0.86564	0.5963	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	0.91635	0.999;0.999;0.999;0.999	D	0.86937	0.2077	10	0.62326	D	0.03	.	19.277	0.94036	0.0:1.0:0.0:0.0	.	867;1074;468;850	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	I	850;692;867;468;143;363	ENSP00000261509:T850I;ENSP00000336735:T692I;ENSP00000425556:T867I;ENSP00000426947:T468I;ENSP00000377327:T143I;ENSP00000424016:T363I	ENSP00000261509:T850I	T	+	2	0	PALLD	170061610	1.000000	0.71417	0.843000	0.33291	0.011000	0.07611	7.644000	0.83416	2.782000	0.95742	0.655000	0.94253	ACA		0.443	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		14	20	0	0	0	1	0	14	20					T	169825035	C	T	169825035	3	4	54	1	0	0	0	0	1	0	0	0	11416	478	17	3	3161	3	PALLD	4	169825035	Missense_Mutation	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08	16577746	169825035	21329241	12	9569										
PCDHB6	56130	broad.mit.edu	37	chr5	140532009	140532009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	ggcctcggtgggtcgctactCggtgcccgagggtccctttc	15	14	0	0			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr5:140532009C>T	ENST00000231136.1	+	1	2171	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S588L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	724					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S724L(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCGCTACTCGGTGCCCGAG	0.652																																						ENST00000231136.1																			1	Substitution - Missense(1)	p.S724L(1)	skin(1)	cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(2170-2172)tCg>tTg									93	105	101					5																	140532009		2202	4300	6502	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140532009C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2171C>T	5.37:g.140532009C>T	ENSP00000231136:p.Ser724Leu		Somatic				PCDHB6_ENST00000543635.1_Missense_Mutation_p.S588L	p.S724L	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	2171	+			724					B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.2171C>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063115	0.36373	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.53857	0.6;0.63	4.18	3.0	0.34707	.	.	.	.	.	T	0.46112	0.1376	L	0.52126	1.63	0.09310	N	1	B	0.16166	0.016	B	0.10450	0.005	T	0.37126	-0.9719	9	0.45353	T	0.12	.	10.5956	0.45336	0.0:0.8547:0.0:0.1453	.	724	Q9Y5E3	PCDB6_HUMAN	L	588;724	ENSP00000438466:S588L;ENSP00000231136:S724L	ENSP00000231136:S724L	S	+	2	0	PCDHB6	140512193	0.000000	0.05858	0.003000	0.11579	0.042000	0.13812	0.113000	0.15499	2.055000	0.61198	0.556000	0.70494	TCG		0.652	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		12	157	0	0	0	1	0	12	157					T	140532009	C	T	140532009	3	4	54	1	0	0	0	0	1	0	0	0	11555	893	31	1	2173	1	PCDHB6	5	140532009	Missense_Mutation	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08		140532009	40383251	13	9570										
C5orf46	389336	broad.mit.edu	37	chr5	147281275	147281275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	aggcttaggaatttggggaaGtctggctttgggtctttgcc	15	6	2	0			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr5:147281275G>A	ENST00000318315.4	-	2	132	c.132C>T	c.(130-132)gaC>gaT	p.D44D	C5orf46_ENST00000510432.1_5'UTR|C5orf46_ENST00000515291.1_Silent_p.D44D	NM_206966.2	NP_996849.2	Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	44						extracellular vesicular exosome (GO:0070062)				NS(1)|lung(1)|prostate(1)	3						ATTTGGGGAAGTCTGGCTTTG	0.502																																						ENST00000515291.1																			0				NS(1)|lung(1)|prostate(1)	3						c.(130-132)gaC>gaT		chromosome 5 open reading frame 46							247	220	229					5																	147281275		2203	4300	6503	SO:0001819	synonymous_variant	389336					extracellular region		g.chr5:147281275G>A		CCDS34267.1	5q33.1	2013-12-13			ENSG00000178776	ENSG00000178776			33768	protein-coding gene	gene with protein product	"skin and saliva secreted protein 1"						Standard	NM_206966		Approved	MGC23985, SSSP1	uc003lou.3	Q6UWT4	OTTHUMG00000163420	ENST00000318315.4:c.132C>T	5.37:g.147281275G>A			Somatic				C5orf46_ENST00000318315.4_Silent_p.D44D|C5orf46_ENST00000510432.1_5'UTR	p.D44D			WXS	Illumina GAIIx	Phase_I	Q6UWT4	CE046_HUMAN			2	168	-			44					A8K038|Q8WU04	Silent	SNP	ENST00000318315.4	37	c.132C>T	CCDS34267.1																																																																																				0.502	C5orf46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373314.1	NM_206966		11	21	0	0	0	1	0	11	21					A	147281275	G	A	147281275	2	1	54	1	0	0	0	0	0	0	0	1	2307	1020	36	3		3	C5orf46	5	147281275	Silent	SNP	G	TCGA-NG-A4VU-01A-11D-A28R-08	6749266	147281275	33633985	14	9571										
ADAMTS2	9509	broad.mit.edu	37	chr5	178557078	178557078	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	cttcatttaagatgaacttgCctgtctccaggttcttgacg	8	10	3	3			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr5:178557078C>A	ENST00000251582.7	-	16	2413	c.2312G>T	c.(2311-2313)gGc>gTc	p.G771V		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	771	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)			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)		GATGAACTTGCCTGTCTCCAG	0.572																																						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.(2311-2313)gGc>gTc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							100	87	92					5																	178557078		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178557078C>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.2312G>T	5.37:g.178557078C>A	ENSP00000251582:p.Gly771Val		Somatic					p.G771V	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)	16	2413	-	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)	771			Spacer.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2312G>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064342	0.76187	.	.	ENSG00000087116	ENST00000251582	T	0.57907	0.37	5.09	5.09	0.68999	ADAM-TS Spacer 1 (1);	0.000000	0.56097	D	0.000039	T	0.77003	0.4067	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81404	-0.0948	10	0.72032	D	0.01	.	17.8402	0.88713	0.0:1.0:0.0:0.0	.	771	O95450	ATS2_HUMAN	V	771	ENSP00000251582:G771V	ENSP00000251582:G771V	G	-	2	0	ADAMTS2	178489684	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.710000	0.68392	2.523000	0.85059	0.462000	0.41574	GGC		0.572	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		33	2	1	0	6.70999e-13	1	7.28843e-13	33	2					A	178557078	C	A	178557078	3	1	54	1	0	0	0	0	1	0	0	0	265	739	26	5	1351	5	ADAMTS2	5	178557078	Missense_Mutation	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08	31275803	178557078	2358182	15	9572										
TBC1D9B	23061	broad.mit.edu	37	chr5	179301924	179301924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	gcccagcatggtcatggcctCgccctcgtcgctgcagccca	11	18	1	0			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr5:179301924C>T	ENST00000356834.3	-	12	2201	c.2164G>A	c.(2164-2166)Gag>Aag	p.E722K	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E722K	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	722						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCATGGCCTCGCCCTCGTCG	0.647																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(2164-2166)Gag>Aag		TBC1 domain family, member 9B (with GRAM domain)							48	47	47					5																	179301924		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179301924C>T	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2164G>A	5.37:g.179301924C>T	ENSP00000349291:p.Glu722Lys		Somatic				TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E722K	p.E722K	NM_198868.2	NP_942568.2	WXS	Illumina GAIIx	Phase_I	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	2201	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	722					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.2164G>A	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	C	36	5.827925	0.96996	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.28454	1.61;1.61	5.29	5.29	0.74685	Rab-GAP/TBC domain (1);	0.129490	0.50627	D	0.000110	T	0.61400	0.2344	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.992	T	0.66344	-0.5947	10	0.62326	D	0.03	-34.6651	18.9379	0.92594	0.0:1.0:0.0:0.0	.	722;722;722	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	K	722	ENSP00000349291:E722K;ENSP00000347375:E722K	ENSP00000347375:E722K	E	-	1	0	TBC1D9B	179234530	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.743000	0.85020	2.469000	0.83416	0.491000	0.48974	GAG		0.647	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		48	4	0	0	0	1	0	48	4					T	179301924	C	T	179301924	3	4	54	1	0	0	0	0	1	0	0	0	15643	893	31	1	1632	1	TBC1D9B	5	179301924	Missense_Mutation	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08	744846	179301924	1613336	16	9573										
KIAA1949	170954	broad.mit.edu	37	chr6	30647013	30647013	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	ctctggctgcagcagcagcaGctcttcctcatcctcttcgt	8	16	4	0			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr6:30647013G>A	ENST00000274853.3	-	2	3641	c.1765C>T	c.(1765-1767)Ctg>Ttg	p.L589L	PPP1R18_ENST00000488324.1_5'UTR|PPP1R18_ENST00000399199.3_Silent_p.L589L	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	589						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											AGCAGCAGCAGCTCTTCCTCA	0.692																																						ENST00000274853.3																			0											c.(1765-1767)Ctg>Ttg		protein phosphatase 1, regulatory subunit 18							40	44	43					6																	30647013		1207	2511	3718	SO:0001819	synonymous_variant	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30647013G>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.1765C>T	6.37:g.30647013G>A			Somatic				PPP1R18_ENST00000399199.3_Silent_p.L589L|PPP1R18_ENST00000488324.1_5'UTR	p.L589L	NM_133471.3	NP_597728.1	WXS	Illumina GAIIx	Phase_I	Q6NYC8	PHTNS_HUMAN			2	3641	-			589					A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Silent	SNP	ENST00000274853.3	37	c.1765C>T	CCDS43444.1																																																																																				0.692	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		24	51	0	0	0	1	0	24	51					A	30647013	G	A	30647013	2	1	54	1	0	0	0	0	0	0	0	1	8272	962	34	3		3	KIAA1949	6	30647013	Silent	SNP	G	TCGA-NG-A4VU-01A-11D-A28R-08		30647013	140468054	17	9574										
BAI3	577	broad.mit.edu	37	chr6	70070975	70070975	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	gagcttagcaatccatgtttGaaaaaagaaaatagtgaatt	8	4	0	3			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr6:70070975G>C	ENST00000370598.1	+	29	4631	c.3810G>C	c.(3808-3810)ttG>ttC	p.L1270F	BAI3_ENST00000238918.8_Missense_Mutation_p.L476F|BAI3_ENST00000546190.1_Missense_Mutation_p.L234F	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1270					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)				ATCCATGTTTGAAAAAAGAAA	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.(3808-3810)ttG>ttC		brain-specific angiogenesis inhibitor 3							92	86	88					6																	70070975		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.chr6:70070975G>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.3810G>C	6.37:g.70070975G>C	ENSP00000359630:p.Leu1270Phe		Somatic				BAI3_ENST00000238918.8_Missense_Mutation_p.L476F|BAI3_ENST00000546190.1_Missense_Mutation_p.L234F	p.L1270F	NM_001704.2	NP_001695.1	WXS	Illumina GAIIx	Phase_I	O60242	BAI3_HUMAN			29	4631	+		all_lung(197;0.212)	1270					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3810G>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419335	0.25552	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.06142	3.34;3.34;3.34	5.58	2.72	0.32119	.	0.252397	0.39985	N	0.001218	T	0.03136	0.0092	L	0.55990	1.75	0.43642	D	0.996043	P;P	0.44877	0.845;0.779	B;B	0.41135	0.348;0.125	T	0.45101	-0.9284	10	0.56958	D	0.05	.	7.9951	0.30263	0.143:0.0:0.7285:0.1285	.	476;1270	B7Z356;O60242	.;BAI3_HUMAN	F	1270;476;234	ENSP00000359630:L1270F;ENSP00000238918:L476F;ENSP00000441821:L234F	ENSP00000238918:L476F	L	+	3	2	BAI3	70127696	1.000000	0.71417	0.992000	0.48379	0.379000	0.30106	2.454000	0.44979	0.342000	0.23796	-0.218000	0.12543	TTG		0.403	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			11	17	0	0	0	1	0	11	17					C	70070975	G	C	70070975	3	2	54	1	0	0	0	0	1	0	0	0	1300	1281	45	2	3916	2	BAI3	6	70070975	Missense_Mutation	SNP	G	TCGA-NG-A4VU-01A-11D-A28R-08	39423962	70070975	101044092	18	9575										
DNAH11	8701	broad.mit.edu	37	chr7	21757493	21757493	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	ctgcatgcttggataaactgAgaacaagctttaaaaccatc	7	9	0	1			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr7:21757493A>G	ENST00000409508.3	+	43	7115	c.7084A>G	c.(7084-7086)Aga>Gga	p.R2362G	DNAH11_ENST00000328843.6_Missense_Mutation_p.R2369G	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2369	AAA 2. {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						GGATAAACTGAGAACAAGCTT	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.(7105-7107)Aga>Gga		dynein, axonemal, heavy chain 11							159	152	154					7																	21757493		1895	4113	6008	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.chr7:21757493A>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.7084A>G	7.37:g.21757493A>G	ENSP00000475939:p.Arg2362Gly		Somatic				DNAH11_ENST00000409508.3_Missense_Mutation_p.R2362G	p.R2369G			WXS	Illumina GAIIx	Phase_I	Q96DT5	DYH11_HUMAN			44	7136	+			2369			AAA 2 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.7105A>G		.	.	.	.	.	.	.	.	.	.	A	14.84	2.655051	0.47467	.	.	ENSG00000105877	ENST00000328843	T	0.27720	1.65	5.82	4.63	0.57726	.	0.053282	0.64402	D	0.000003	T	0.49983	0.1589	.	.	.	0.47737	D	0.999501	D	0.71674	0.998	P	0.59825	0.864	T	0.52646	-0.8548	9	0.62326	D	0.03	.	12.0672	0.53594	0.8557:0.1443:0.0:0.0	.	2369	Q96DT5	DYH11_HUMAN	G	2369	ENSP00000330671:R2369G	ENSP00000330671:R2369G	R	+	1	2	DNAH11	21724018	1.000000	0.71417	0.994000	0.49952	0.339000	0.28857	3.876000	0.56115	0.980000	0.38523	0.455000	0.32223	AGA		0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	79	0	0	0	1	0	4	79					G	21757493	A	G	21757493	3	3	54	1	0	0	0	0	1	0	0	0	4601	296	11	4	7276	4	DNAH11	7	21757493	Missense_Mutation	SNP	A	TCGA-NG-A4VU-01A-11D-A28R-08		21757493	137381170	19	9576										
ATP6V0A4	50617	broad.mit.edu	37	chr7	138394427	138394427	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	ctccatgatcagaaggatggCtactgtcaggacagcaaata	10	9	2	2			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr7:138394427C>G	ENST00000310018.2	-	21	2653	c.2371G>C	c.(2371-2373)Gcc>Ccc	p.A791P	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A791P|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A791P	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	791					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGAAGGATGGCTACTGTCAGG	0.542																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2371-2373)Gcc>Ccc		ATPase, H+ transporting, lysosomal V0 subunit a4							174	171	172					7																	138394427		2203	4300	6503	SO:0001583	missense	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.chr7:138394427C>G	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.2371G>C	7.37:g.138394427C>G	ENSP00000308122:p.Ala791Pro		Somatic				ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A791P|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A791P	p.A791P	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	WXS	Illumina GAIIx	Phase_I	Q9HBG4	VPP4_HUMAN			21	2653	-			791					A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.2371G>C	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933599	0.92458	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.87179	-2.22;-2.22;-2.22	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.95364	0.8495	M	0.92784	3.345	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	D	0.95768	0.8806	10	0.72032	D	0.01	-27.0032	19.8636	0.96797	0.0:1.0:0.0:0.0	.	791	Q9HBG4	VPP4_HUMAN	P	791	ENSP00000308122:A791P;ENSP00000376774:A791P;ENSP00000253856:A791P	ENSP00000308122:A791P	A	-	1	0	ATP6V0A4	138044967	0.998000	0.40836	0.964000	0.40570	0.958000	0.62258	3.831000	0.55776	2.694000	0.91930	0.655000	0.94253	GCC		0.542	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		97	115	0	0	0	1	0	97	115					G	138394427	C	G	138394427	3	3	54	1	0	0	0	0	1	0	0	0	1170	797	28	5	159	5	ATP6V0A4	7	138394427	Missense_Mutation	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08	116636934	138394427	20744236	20	9577										
WRN	7486	broad.mit.edu	37	chr8	30924601	30924601	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	tctggttaaacacctcttagGtaaacagctcctgaaagaca	7	10	2	2			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr8:30924601G>T	ENST00000298139.5	+	6	806	c.557G>T	c.(556-558)gGt>gTt	p.G186V		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	186	3'-5' exonuclease.|Interaction with WRNIP1. {ECO:0000250}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CACCTCTTAGGTAAACAGCTC	0.418			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(556-558)gGt>gTt	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							101	88	93					8																	30924601		2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30924601G>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.557G>T	8.37:g.30924601G>T	ENSP00000298139:p.Gly186Val		Somatic					p.G186V	NM_000553.4	NP_000544.2	WXS	Illumina GAIIx	Phase_I	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	6	806	+		Breast(100;0.195)	186			3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.557G>T	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487371	0.44249	.	.	ENSG00000165392	ENST00000298139	T	0.69806	-0.43	5.82	3.07	0.35406	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.507499	0.22481	N	0.059482	T	0.80824	0.4697	M	0.91561	3.22	0.19300	N	0.999979	D	0.64830	0.994	P	0.60473	0.875	T	0.71813	-0.4479	10	0.66056	D	0.02	-5.2686	8.2442	0.31677	0.364:0.0:0.636:0.0	.	186	Q14191	WRN_HUMAN	V	186	ENSP00000298139:G186V	ENSP00000298139:G186V	G	+	2	0	WRN	31044143	0.147000	0.22687	0.136000	0.22124	0.738000	0.42128	2.329000	0.43876	0.812000	0.34326	0.561000	0.74099	GGT		0.418	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			24	0	1	0	2.89027e-11	1	3.08622e-11	24	0					T	30924601	G	T	30924601	3	4	54	1	0	0	0	0	1	0	0	0	17417	1261	44	5	575	5	WRN	8	30924601	Missense_Mutation	SNP	G	TCGA-NG-A4VU-01A-11D-A28R-08		30924601	115439421	21	9578										
PLAA	9373	broad.mit.edu	37	chr9	26919455	26919455	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	tgcagttaaccaagggtcatCactggtattatatggcaatt	9	7	2	0			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr9:26919455C>T	ENST00000397292.3	-	9	1687	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	PLAA_ENST00000520641.1_5'UTR|PLAA_ENST00000520884.1_Missense_Mutation_p.D424N	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	424	PFU. {ECO:0000255|PROSITE- ProRule:PRU00727}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CAAGGGTCATCACTGGTATTA	0.313																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(1270-1272)Gat>Aat		phospholipase A2-activating protein							183	191	188					9																	26919455		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26919455C>T	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"WD repeat domain containing"	9043	protein-coding gene	gene with protein product	"DOA1 homolog (S. cerevisiae)"	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1270G>A	9.37:g.26919455C>T	ENSP00000380460:p.Asp424Asn		Somatic				PLAA_ENST00000520641.1_5'UTR|PLAA_ENST00000520884.1_Missense_Mutation_p.D424N	p.D424N	NM_001031689.2	NP_001026859.1	WXS	Illumina GAIIx	Phase_I	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	9	1687	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	424			PFU.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.1270G>A	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509363	0.85282	.	.	ENSG00000137055	ENST00000397292;ENST00000520884	T;T	0.60920	0.15;0.3	5.72	5.72	0.89469	PLAA family ubiquitin binding, PFU (2);	0.094616	0.64402	D	0.000001	T	0.75177	0.3814	M	0.84219	2.685	0.80722	D	1	P;P	0.47484	0.896;0.837	P;P	0.54060	0.721;0.741	T	0.78383	-0.2225	10	0.87932	D	0	-19.0419	19.8711	0.96851	0.0:1.0:0.0:0.0	.	424;424	E5RIM3;Q9Y263	.;PLAP_HUMAN	N	424	ENSP00000380460:D424N;ENSP00000429372:D424N	ENSP00000380460:D424N	D	-	1	0	PLAA	26909455	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.699000	0.68310	2.689000	0.91719	0.591000	0.81541	GAT		0.313	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		34	69	0	0	0	1	0	34	69					T	26919455	C	T	26919455	3	4	54	1	0	0	0	0	1	0	0	0	12020	826	29	3	1141	3	PLAA	9	26919455	Missense_Mutation	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08		26919455	114293976	22	9579										
TOPORS	10210	broad.mit.edu	37	chr9	32550878	32550878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	cgcgaaggcgtacccggcgaCttctccgcctaccctccgaa	10	18	1	0			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr9:32550878C>A	ENST00000360538.2	-	2	208	c.92G>T	c.(91-93)aGt>aTt	p.S31I	TOPORS_ENST00000379858.1_Intron|TOPORS-AS1_ENST00000540066.1_RNA|TOPORS-AS1_ENST00000450093.1_RNA|TOPORS-AS1_ENST00000458036.1_RNA|TOPORS-AS1_ENST00000453396.1_RNA|TOPORS-AS1_ENST00000425533.1_RNA	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	31	E3 ubiquitin-protein ligase activity.				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)		TACCCGGCGACTTCTCCGCCT	0.726																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(91-93)aGt>aTt		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							20	25	23					9																	32550878		2201	4289	6490	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.chr9:32550878C>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.92G>T	9.37:g.32550878C>A	ENSP00000353735:p.Ser31Ile		Somatic				TOPORS_ENST00000379858.1_Intron	p.S31I	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)	2	208	-			31			E3 ubiquitin-protein ligase activity.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.92G>T	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043272	0.75732	.	.	ENSG00000197579	ENST00000360538	T	0.23552	1.9	4.15	4.15	0.48705	.	0.114600	0.40144	N	0.001165	T	0.28699	0.0711	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.22243	-1.0222	10	0.87932	D	0	-14.5559	12.2289	0.54476	0.0:1.0:0.0:0.0	.	31	Q9NS56	TOPRS_HUMAN	I	31	ENSP00000353735:S31I	ENSP00000353735:S31I	S	-	2	0	TOPORS	32540878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.827000	0.48112	2.600000	0.87896	0.655000	0.94253	AGT		0.726	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		9	13	1	0	0.0692343	1	0.0692343	9	13					A	32550878	C	A	32550878	3	1	54	1	0	0	0	0	1	0	0	0	16385	565	20	5	3053	5	TOPORS	9	32550878	Missense_Mutation	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08	5631423	32550878	108662553	23	9580										
NAA35	60560	broad.mit.edu	37	chr9	88593281	88593281	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	atggcatccaggcccagaatGatactacaaaaggaggtaat	10	8	0	2			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr9:88593281G>A	ENST00000361671.5	+	11	995	c.862G>A	c.(862-864)Gat>Aat	p.D288N	NAA35_ENST00000376040.1_Missense_Mutation_p.D288N	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	288					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						GGCCCAGAATGATACTACAAA	0.373																																						ENST00000361671.5																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						c.(862-864)Gat>Aat		N(alpha)-acetyltransferase 35, NatC auxiliary subunit							125	120	122					9																	88593281		2203	4300	6503	SO:0001583	missense	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88593281G>A	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"N(alpha)-acetyltransferase subunits"	24340	protein-coding gene	gene with protein product			"MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.862G>A	9.37:g.88593281G>A	ENSP00000354972:p.Asp288Asn		Somatic				NAA35_ENST00000376040.1_Missense_Mutation_p.D288N	p.D288N	NM_024635.3	NP_078911.3	WXS	Illumina GAIIx	Phase_I	Q5VZE5	NAA35_HUMAN			11	995	+			288					Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	c.862G>A	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312641	0.40895	.	.	ENSG00000135040	ENST00000361671;ENST00000376040	.	.	.	5.88	5.88	0.94601	.	0.174789	0.49916	D	0.000132	T	0.47210	0.1433	N	0.19112	0.55	0.80722	D	1	P;B	0.35155	0.487;0.081	B;B	0.37387	0.248;0.012	T	0.33240	-0.9876	9	0.16420	T	0.52	-8.6431	20.2381	0.98363	0.0:0.0:1.0:0.0	.	288;288	Q5VZE6;Q5VZE5	.;NAA35_HUMAN	N	288	.	ENSP00000354972:D288N	D	+	1	0	NAA35	87783101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.328000	0.96403	2.779000	0.95612	0.650000	0.86243	GAT		0.373	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		15	22	0	0	0	1	0	15	22					A	88593281	G	A	88593281	3	1	54	1	0	0	0	0	1	0	0	0	10132	1290	45	3	900	3	NAA35	9	88593281	Missense_Mutation	SNP	G	TCGA-NG-A4VU-01A-11D-A28R-08	56042403	88593281	52620150	24	9581										
DDX31	64794	broad.mit.edu	37	chr9	135487643	135487643	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	ttggatgaaggactgcagagCtgaaagaaaagagagcgggg	17	4	0	5			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr9:135487643C>T	ENST00000372159.3	-	19	2292		c.e19-1		DDX31_ENST00000372153.1_Splice_Site|DDX31_ENST00000438527.3_Splice_Site	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							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)		GACTGCAGAGCTGAAAGAAAA	0.562																																						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.e19-1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							70	63	66					9																	135487643		2203	4300	6503	SO:0001630	splice_region_variant	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135487643C>T	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.2141-1G>A	9.37:g.135487643C>T			Somatic				DDX31_ENST00000372153.1_Splice_Site|DDX31_ENST00000438527.3_Splice_Site		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)	19	2292	-								Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Splice_Site	SNP	ENST00000372159.3	37		CCDS6951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.940050|3.940050	0.73557|0.73557	.|.	.|.	ENSG00000125485|ENSG00000125485	ENST00000372159;ENST00000372153;ENST00000438527|ENST00000372155	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74989	.|0.3789	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72623	.|-0.4237	.|4	.|.	.|.	.|.	.|.	18.8463|18.8463	0.92208|0.92208	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|N	-1|733	.|.	.|.	.|S	-|-	.|2	.|0	DDX31|DDX31	134477464|134477464	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.606000|0.606000	0.37113|0.37113	7.147000|7.147000	0.77382|0.77382	2.760000|2.760000	0.94817|0.94817	0.655000|0.655000	0.94253|0.94253	.|AGC		0.562	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620	Intron	18	16	0	0	0	1	0	18	16					T	135487643	C	T	135487643	5	4	54	1	0	0	0	0	0	0	1	0	4358	811	28	3	423	3	DDX31	9	135487643	Splice_Site	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08	46894362	135487643	5725788	25	9582										
TUBAL3	79861	broad.mit.edu	37	chr10	5436259	5436259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	agagttataaggctctaccaCagcagtggagatcctggggg	14	8	1	2			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr10:5436259C>T	ENST00000380419.3	-	4	599	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	TUBAL3_ENST00000479328.1_Missense_Mutation_p.V148M	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	188					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GGCTCTACCACAGCAGTGGAG	0.517																																						ENST00000380419.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						c.(562-564)Gtg>Atg		tubulin, alpha-like 3							102	94	97					10																	5436259		2203	4300	6503	SO:0001583	missense	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5436259C>T	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"Tubulins"	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.562G>A	10.37:g.5436259C>T	ENSP00000369784:p.Val188Met		Somatic				TUBAL3_ENST00000479328.1_Missense_Mutation_p.V148M	p.V188M	NM_024803.2	NP_079079.1	WXS	Illumina GAIIx	Phase_I	A6NHL2	TBAL3_HUMAN			4	599	-			188					B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	37	c.562G>A	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987552	0.35036	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	T;T	0.71222	-0.55;-0.55	4.2	1.28	0.21552	Tubulin/FtsZ, GTPase domain (4);	0.706739	0.12329	N	0.478573	T	0.82240	0.4994	M	0.83384	2.64	0.34779	D	0.734585	D;D	0.71674	0.998;0.992	D;D	0.69142	0.962;0.922	T	0.82784	-0.0286	10	0.72032	D	0.01	.	8.9322	0.35677	0.0:0.7421:0.0:0.2579	.	148;188	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	M	188;148	ENSP00000369784:V188M;ENSP00000418799:V148M	ENSP00000369784:V188M	V	-	1	0	TUBAL3	5426259	0.771000	0.28555	0.001000	0.08648	0.017000	0.09413	1.666000	0.37460	0.155000	0.19261	0.650000	0.86243	GTG		0.517	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		51	33	0	0	0	1	0	51	33					T	5436259	C	T	5436259	3	4	54	1	0	0	0	0	1	0	0	0	16766	478	17	3	782	3	TUBAL3	10	5436259	Missense_Mutation	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08		5436259	130098488	26	9583										
CTBP2	1488	broad.mit.edu	37	chr10	126682516	126682516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	gctttctcgtccaccaggccGccacgggctgcgttcacaag	11	16	2	0	rs185815738	byFrequency	TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr10:126682516G>A	ENST00000337195.5	-	8	1218	c.819C>T	c.(817-819)ggC>ggT	p.G273G	CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000309035.6_Silent_p.G813G|CTBP2_ENST00000411419.2_Silent_p.G273G	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2437-2439)ggC>ggT		C-terminal binding protein 2							82	86	85					10																	126682516		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682516G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.819C>T	10.37:g.126682516G>A			Somatic				CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G	p.G813G	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)	6	2569	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	273					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2439C>T	CCDS7643.1																																																																																				0.582	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		4	220	0	0	0	1	0	4	220					A	126682516	G	A	126682516	2	1	54	1	0	0	0	0	0	0	0	1	4000	1074	38	1		1	CTBP2	10	126682516	Silent	SNP	G	TCGA-NG-A4VU-01A-11D-A28R-08	121246257	126682516	8852231	27	9584										
OR51A4	401666	broad.mit.edu	37	chr11	4967462	4967462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	tttttacacaataaacaattGggttcgtcagtggaggtaca	9	6	1	0			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr11:4967462G>A	ENST00000380373.2	-	1	894	c.869C>T	c.(868-870)cCa>cTa	p.P290L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAAACAATTGGGTTCGTCAG	0.423																																						ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(868-870)cCa>cTa		olfactory receptor, family 51, subfamily A, member 4							158	156	157					11																	4967462		2200	4298	6498	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967462G>A	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"GPCR / Class A : Olfactory receptors"	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.869C>T	11.37:g.4967462G>A	ENSP00000369731:p.Pro290Leu		Somatic				MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.P290L	NM_001005329.1	NP_001005329.1	WXS	Illumina GAIIx	Phase_I	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	894	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	290						Missense_Mutation	SNP	ENST00000380373.2	37	c.869C>T	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952318	0.73787	.	.	ENSG00000205497	ENST00000380373	D	0.98807	-5.15	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.99013	0.9663	M	0.93898	3.47	0.51767	D	0.999937	D	0.56287	0.975	P	0.55011	0.766	D	0.99391	1.0925	9	0.87932	D	0	.	13.6431	0.62265	0.0:0.0:1.0:0.0	.	290	Q8NGJ6	O51A4_HUMAN	L	290	ENSP00000369731:P290L	ENSP00000369731:P290L	P	-	2	0	OR51A4	4924038	1.000000	0.71417	0.250000	0.24296	0.785000	0.44390	7.012000	0.76366	1.823000	0.53134	0.479000	0.44913	CCA		0.423	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		10	74	0	0	0	1	0	10	74					A	4967462	G	A	4967462	3	1	54	1	0	0	0	0	1	0	0	0	11096	1348	47	3	74	3	OR51A4	11	4967462	Missense_Mutation	SNP	G	TCGA-NG-A4VU-01A-11D-A28R-08		4967462	130039054	28	9585										
DHH	50846	broad.mit.edu	37	chr12	49488228	49488228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	ccggcccccggcccggcccgCagctctgggctggcagcgcc	15	21	1	0			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr12:49488228C>T	ENST00000266991.2	-	1	374	c.68G>A	c.(67-69)tGc>tAc	p.C23Y	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	23					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						gcccggcccgcAGCTCTGGGC	0.672																																						ENST00000266991.2																			0				breast(1)|large_intestine(3)|lung(4)	8						c.(67-69)tGc>tAc		desert hedgehog							5	6	5					12																	49488228		1903	3763	5666	SO:0001583	missense	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49488228C>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.68G>A	12.37:g.49488228C>T	ENSP00000266991:p.Cys23Tyr		Somatic					p.C23Y	NM_021044.2	NP_066382.1	WXS	Illumina GAIIx	Phase_I	O43323	DHH_HUMAN			1	374	-			23					Q15794	Missense_Mutation	SNP	ENST00000266991.2	37	c.68G>A	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394954	0.83011	.	.	ENSG00000139549	ENST00000266991	D	0.99671	-6.35	5.15	5.15	0.70609	Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99711	0.9889	M	0.93106	3.38	0.80722	D	1	D	0.69078	0.997	D	0.87578	0.998	D	0.97423	1.0010	10	0.87932	D	0	-1.1021	17.4475	0.87583	0.0:1.0:0.0:0.0	.	23	O43323	DHH_HUMAN	Y	23	ENSP00000266991:C23Y	ENSP00000266991:C23Y	C	-	2	0	DHH	47774495	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.523000	0.81856	2.422000	0.82143	0.456000	0.33151	TGC		0.672	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		10	11	0	0	0	1	0	10	11					T	49488228	C	T	49488228	3	4	54	1	0	0	0	0	1	0	0	0	4485	710	25	3	1134	3	DHH	12	49488228	Missense_Mutation	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08		49488228	84363667	29	9586										
RNASE2	6036	broad.mit.edu	37	chr14	21423973	21423973	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	cccaaatttgtctgcttcttCtgttggggcttctggctgtg	11	10	4	0			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr14:21423973C>T	ENST00000304625.2	+	2	133	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	15					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)		TCTGCTTCTTCTGTTGGGGCT	0.463																																						ENST00000304625.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17						c.(43-45)Ctg>Ttg		ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)							88	95	93					14																	21423973		2203	4297	6500	SO:0001819	synonymous_variant	6036				chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21423973C>T	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.43C>T	14.37:g.21423973C>T			Somatic					p.L15L	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	133	+	all_cancers(95;0.00381)		15					Q52M39|Q9H2B7|Q9UCG7	Silent	SNP	ENST00000304625.2	37	c.43C>T	CCDS9561.1																																																																																				0.463	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2			31	111	0	0	0	1	0	31	111					T	21423973	C	T	21423973	2	4	54	1	0	0	0	0	0	0	0	1	13419	912	32	3		3	RNASE2	14	21423973	Silent	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08		21423973	85925567	30	9587										
HCFC1R1	54985	broad.mit.edu	37	chr16	3073909	3073909	+	Frame_Shift_Del	DEL	G	G	-													0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	gaggcgctgggcccctccctGggggcctcgctgcaagggct							TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr16:3073909delG	ENST00000248089.3	-	1	338	c.34delC	c.(34-36)cagfs	p.Q12fs	THOC6_ENST00000326266.8_5'Flank|THOC6_ENST00000253952.9_5'Flank|THOC6_ENST00000575576.1_5'Flank|HCFC1R1_ENST00000354679.3_Frame_Shift_Del_p.Q12fs|HCFC1R1_ENST00000574980.1_Frame_Shift_Del_p.Q12fs|THOC6_ENST00000574549.1_5'Flank|HCFC1R1_ENST00000574151.1_Frame_Shift_Del_p.Q12fs|HCFC1R1_ENST00000572355.1_Intron|HCFC1R1_ENST00000396916.1_Frame_Shift_Del_p.Q12fs	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	12						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						GCCCCTCCCTGGGGGCCTCGC	0.711																																						ENST00000248089.3																			0				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						c.(34-36)agfs		host cell factor C1 regulator 1 (XPO1 dependent)							8	10	9					16																	3073909		2122	4213	6335	SO:0001589	frameshift_variant	54985					cytoplasm|nucleus		g.chr16:3073909delG	AK000575	CCDS10490.1, CCDS32375.1, CCDS73815.1	16p13.3	2008-02-05	2005-12-01			ENSG00000103145			21198	protein-coding gene	gene with protein product			"host cell factor C1 regulator 1 (XPO1 dependant)"			12235138	Standard	NM_001002018		Approved	HPIP, FLJ20568	uc002csy.1	Q9NWW0		ENST00000248089.3:c.34delC	16.37:g.3073909delG	ENSP00000248089:p.Gln12fs		Somatic				HCFC1R1_ENST00000354679.3_Frame_Shift_Del_p.Q12fs|HCFC1R1_ENST00000396916.1_Frame_Shift_Del_p.Q12fs|HCFC1R1_ENST00000572355.1_Intron|HCFC1R1_ENST00000574980.1_Frame_Shift_Del_p.Q12fs|HCFC1R1_ENST00000574151.1_Frame_Shift_Del_p.Q12fs	p.Q12fs	NM_017885.2	NP_060355.1	WXS	Illumina GAIIx	Phase_I	Q9NWW0	HPIP_HUMAN			1	338	-			12					D3DUA7|Q68EN7	Frame_Shift_Del	DEL	ENST00000248089.3	37	c.34delC	CCDS10490.1																																																																																				0.711	HCFC1R1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436969.1	NM_017885		2	4						2	4	---	---	---	---	-	3073909	G	-	3073909	7	5	54	1	0	1	0	1	0	0	0	0	7001	1357	47	0	398	0	HCFC1R1	16	3073909	Frame_Shift_Del	DEL	G	TCGA-NG-A4VU-01A-11D-A28R-08		3073909	87280844	31	9588										
DVL2	1856	broad.mit.edu	37	chr17	7129436	7129436	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	gctcggagattaggggcaccCccagttgagcctctggatgg	15	11	1	2			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr17:7129436C>G	ENST00000005340.5	-	15	2241	c.1959G>C	c.(1957-1959)ggG>ggC	p.G653G	DVL2_ENST00000575458.1_Silent_p.G647G|MIR324_ENST00000362183.1_RNA	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	653					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TAGGGGCACCCCCAGTTGAGC	0.672																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(1957-1959)ggG>ggC		dishevelled segment polarity protein 2							34	37	36					17																	7129436		2203	4300	6503	SO:0001819	synonymous_variant	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7129436C>G	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1959G>C	17.37:g.7129436C>G			Somatic				DVL2_ENST00000575458.1_Silent_p.G647G	p.G653G	NM_004422.2	NP_004413.1	WXS	Illumina GAIIx	Phase_I	O14641	DVL2_HUMAN			15	2241	-			653					D3DTN3|Q53XM0	Silent	SNP	ENST00000005340.5	37	c.1959G>C	CCDS11091.1																																																																																				0.672	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		38	5	0	0	0	1	0	38	5					G	7129436	C	G	7129436	2	3	54	1	0	0	0	0	0	0	0	1	4838	610	22	5		5	DVL2	17	7129436	Silent	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08		7129436	74065774	32	9589										
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	p.R175H	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	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		45	1	0	0	0	1	0	45	1					T	7578406	C	T	7578406	3	4	54	1	0	0	0	0	1	0	0	0	16396	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08	448970	7578406	73616804	33	9590										
PTRF	284119	broad.mit.edu	37	chr17	40557062	40557062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	gtgcccagcttgttcatgcgCttctccagggtgtgccgcgt	13	13	2	0			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr17:40557062C>T	ENST00000357037.5	-	2	1235	c.816G>A	c.(814-816)aaG>aaA	p.K272K		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		TGTTCATGCGCTTCTCCAGGG	0.617																																						ENST00000357037.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(814-816)aaG>aaA		polymerase I and transcript release factor							114	100	105					17																	40557062		2203	4300	6503	SO:0001819	synonymous_variant	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557062C>T	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.816G>A	17.37:g.40557062C>T			Somatic					p.K272K	NM_012232.5	NP_036364.2	WXS	Illumina GAIIx	Phase_I	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1235	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	272						Silent	SNP	ENST00000357037.5	37	c.816G>A	CCDS11425.1																																																																																				0.617	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		27	31	0	0	0	1	0	27	31					T	40557062	C	T	40557062	2	4	54	1	0	0	0	0	0	0	0	1	12830	796	28	3		3	PTRF	17	40557062	Silent	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08	32978656	40557062	40638148	34	9591										
PALM	5064	broad.mit.edu	37	chr19	740396	740396	+	Frame_Shift_Del	DEL	G	G	-													0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	tggagaaggacaaggtgacaGgggagaccagggtgctgtcc							TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:740396delG	ENST00000338448.5	+	8	593	c.547delG	c.(547-549)gggfs	p.G183fs	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000264560.7_Intron	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	183					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CAAGGTGACAGGGGAGACCAG	0.652																																						ENST00000338448.5																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(547-549)ggfs		paralemmin							55	33	40					19																	740396		2175	4259	6434	SO:0001589	frameshift_variant	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:740396delG	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.547delG	19.37:g.740396delG	ENSP00000341911:p.Gly183fs		Somatic				PALM_ENST00000264560.7_Intron|PALM_ENST00000606643.1_Intron	p.G183fs	NM_002579.2	NP_002570.2	WXS	Illumina GAIIx	Phase_I	O75781	PALM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)	8	593	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	183					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Frame_Shift_Del	DEL	ENST00000338448.5	37	c.547delG	CCDS32857.1																																																																																				0.652	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		2	4						2	4	---	---	---	---	-	740396	G	-	740396	7	5	54	1	0	1	0	1	0	0	0	0	11417	1000	35	0	577	0	PALM	19	740396	Frame_Shift_Del	DEL	G	TCGA-NG-A4VU-01A-11D-A28R-08		740396	58388587	35	9592										
RFX1	5989	broad.mit.edu	37	chr19	14090342	14090342	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	gggcgcttgtggagtggcctGgaccacagatctctgggagg	18	9	1	1			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:14090342G>A	ENST00000254325.4	-	7	985	c.751C>T	c.(751-753)Cag>Tag	p.Q251*		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	251					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)			GGAGTGGCCTGGACCACAGAT	0.622																																						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.(751-753)Cag>Tag		regulatory factor X, 1 (influences HLA class II expression)							50	55	53					19																	14090342		2203	4300	6503	SO:0001587	stop_gained	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14090342G>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.751C>T	19.37:g.14090342G>A	ENSP00000254325:p.Gln251*		Somatic					p.Q251*	NM_002918.4	NP_002909.4	WXS	Illumina GAIIx	Phase_I	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		7	985	-			251						Nonsense_Mutation	SNP	ENST00000254325.4	37	c.751C>T	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	G	40	8.389424	0.98789	.	.	ENSG00000132005	ENST00000254325	.	.	.	4.7	4.7	0.59300	.	0.105638	0.41194	D	0.000927	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-14.5972	14.5633	0.68156	0.0:0.0:1.0:0.0	.	.	.	.	X	251	.	ENSP00000254325:Q251X	Q	-	1	0	RFX1	13951342	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.638000	0.83328	2.153000	0.67306	0.561000	0.74099	CAG		0.622	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		97	74	0	0	0	1	0	97	74					A	14090342	G	A	14090342	4	1	54	1	0	0	0	0	0	1	0	0	13277	1357	47	3	2248	3	RFX1	19	14090342	Nonsense_Mutation	SNP	G	TCGA-NG-A4VU-01A-11D-A28R-08	13349946	14090342	45038641	36	9593										
PEPD	5184	broad.mit.edu	37	chr19	34003603	34003603	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	agcagggttcttccgcagccGctcacacaggcgctgccggt	13	15	2	0	rs61734503		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:34003603G>C	ENST00000244137.7	-	2	130	c.97C>G	c.(97-99)Cgg>Ggg	p.R33G	PEPD_ENST00000397032.4_Missense_Mutation_p.R33G|PEPD_ENST00000436370.3_Missense_Mutation_p.R33G	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	33					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					TTCCGCAGCCGCTCACACAGG	0.647																																						ENST00000244137.6																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17						c.(97-99)Cgg>Ggg		peptidase D							30	34	32					19																	34003603		2004	4178	6182	SO:0001583	missense	5184				cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	g.chr19:34003603G>C	BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"prolidase"	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.97C>G	19.37:g.34003603G>C	ENSP00000244137:p.Arg33Gly		Somatic				PEPD_ENST00000436370.3_Missense_Mutation_p.R33G|PEPD_ENST00000397032.4_Missense_Mutation_p.R33G	p.R33G	NM_000285.3	NP_000276.2	WXS	Illumina GAIIx	Phase_I	P12955	PEPD_HUMAN			2	130	-	Esophageal squamous(110;0.137)		33					A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Missense_Mutation	SNP	ENST00000244137.7	37	c.97C>G	CCDS42544.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666274	0.29604	.	.	ENSG00000124299	ENST00000244137;ENST00000397032;ENST00000436370	T;T;T	0.77098	-1.07;-1.07;-1.07	4.62	3.55	0.40652	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P N-terminal (1);	0.055300	0.64402	D	0.000001	T	0.71074	0.3297	L	0.54908	1.71	0.80722	D	1	B;B;B	0.15473	0.01;0.013;0.012	B;B;B	0.18871	0.019;0.023;0.013	T	0.65557	-0.6139	10	0.33141	T	0.24	-17.3612	10.8423	0.46722	0.0:0.0:0.6449:0.355	.	33;33;33	E9PCE8;A8MX47;P12955	.;.;PEPD_HUMAN	G	33	ENSP00000244137:R33G;ENSP00000380226:R33G;ENSP00000391890:R33G	ENSP00000244137:R33G	R	-	1	2	PEPD	38695443	1.000000	0.71417	0.986000	0.45419	0.940000	0.58332	3.275000	0.51639	1.013000	0.39391	0.313000	0.20887	CGG		0.647	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451432.3	NM_000285		12	48	0	0	0	1	0	12	48					C	34003603	G	C	34003603	3	2	54	1	0	0	0	0	1	0	0	0	11737	1086	38	5	1440	5	PEPD	19	34003603	Missense_Mutation	SNP	G	TCGA-NG-A4VU-01A-11D-A28R-08	19913261	34003603	25125380	37	9594										
ADCK4	79934	broad.mit.edu	37	chr19	41216006	41216006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	catggacttcttagccatctCggccagtactcctagcccca	7	16	2	0	rs199930495		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:41216006C>T	ENST00000324464.3	-	5	626	c.325G>A	c.(325-327)Gag>Aag	p.E109K	ADCK4_ENST00000450541.1_Missense_Mutation_p.E109K|RNU6-195P_ENST00000411352.1_RNA|ADCK4_ENST00000243583.6_Missense_Mutation_p.E109K	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	109						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			TTAGCCATCTCGGCCAGTACT	0.597																																						ENST00000324464.3																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17						c.(325-327)Gag>Aag		aarF domain containing kinase 4			LYS/GLU,LYS/GLU	0,4406		0,0,2203	109	83	92		325,325	4.7	0.8	19		92	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ADCK4	NM_001142555.2,NM_024876.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	109/504,109/545	41216006	1,13005	2203	4300	6503	SO:0001583	missense	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41216006C>T	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.325G>A	19.37:g.41216006C>T	ENSP00000315118:p.Glu109Lys		Somatic				ADCK4_ENST00000450541.1_Missense_Mutation_p.E109K|ADCK4_ENST00000243583.6_Missense_Mutation_p.E109K	p.E109K	NM_024876.3	NP_079152.3	WXS	Illumina GAIIx	Phase_I	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		5	626	-			109					Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	c.325G>A	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	c	17.69	3.450943	0.63290	0.0	1.16E-4	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.76839	-1.05;-0.99;-0.99	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.86260	0.5890	M	0.79123	2.44	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.81914	0.988;0.995	D	0.84445	0.0585	10	0.28530	T	0.3	-27.877	13.0534	0.58967	0.0:1.0:0.0:0.0	.	109;109	Q96D53;Q96D53-2	ADCK4_HUMAN;.	K	109	ENSP00000315118:E109K;ENSP00000412839:E109K;ENSP00000243583:E109K	ENSP00000243583:E109K	E	-	1	0	ADCK4	45907846	0.999000	0.42202	0.826000	0.32828	0.052000	0.14988	5.610000	0.67668	2.463000	0.83235	0.558000	0.71614	GAG		0.597	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		40	44	0	0	0	1	0	40	44					T	41216006	C	T	41216006	3	4	54	1	0	0	0	0	1	0	0	0	290	893	31	1	1353	1	ADCK4	19	41216006	Missense_Mutation	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08	7212403	41216006	17912977	38	9595										
CEACAM21	90273	broad.mit.edu	37	chr19	42091840	42091840	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	ggagcagcagcccccagcctCcacccccggtgagtgtccct	11	19	0	1			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:42091840C>G	ENST00000401445.2	+	5	868	c.842C>G	c.(841-843)tCc>tGc	p.S281C	CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.S280C|CEACAM21_ENST00000407170.2_Missense_Mutation_p.S153C			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	281						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCCCCAGCCTCCACCCCCGGT	0.572																																						ENST00000407170.2																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(457-459)tCc>tGc		carcinoembryonic antigen-related cell adhesion molecule 21							53	63	60					19																	42091840		2183	4297	6480	SO:0001583	missense	90273					integral to membrane		g.chr19:42091840C>G	AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.842C>G	19.37:g.42091840C>G	ENSP00000385739:p.Ser281Cys		Somatic				CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.S280C|CEACAM21_ENST00000401445.2_Missense_Mutation_p.S281C	p.S153C			WXS	Illumina GAIIx	Phase_I	Q3KPI0	CEA21_HUMAN			6	1271	+			281			Ig-like C2-type.		B7WNQ6|O75296|Q6UY47|Q96ER7	Missense_Mutation	SNP	ENST00000401445.2	37	c.458C>G	CCDS46086.1	.	.	.	.	.	.	.	.	.	.	C	5.124	0.208484	0.09757	.	.	ENSG00000007129	ENST00000407170;ENST00000187608;ENST00000401445	T;T;T	0.35973	2.53;1.28;1.3	1.18	1.18	0.20946	.	.	.	.	.	T	0.43033	0.1229	M	0.72353	2.195	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.52514	0.701;0.506	T	0.43653	-0.9378	9	0.62326	D	0.03	.	5.8853	0.18878	0.0:1.0:0.0:0.0	.	280;281	Q3KPI0-2;Q3KPI0	.;CEA21_HUMAN	C	153;280;281	ENSP00000384380:S153C;ENSP00000187608:S280C;ENSP00000385739:S281C	ENSP00000187608:S280C	S	+	2	0	CEACAM21	46783680	0.002000	0.14202	0.002000	0.10522	0.232000	0.25224	0.207000	0.17395	0.983000	0.38602	0.123000	0.15791	TCC		0.572	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	NM_033543		31	43	0	0	0	1	0	31	43					G	42091840	C	G	42091840	3	3	54	1	0	0	0	0	1	0	0	0	3194	855	30	2	860	2	CEACAM21	19	42091840	Missense_Mutation	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08	875834	42091840	17037143	39	9596										
ARHGAP35	2909	broad.mit.edu	37	chr19	47424519	47424519	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	ttgttttttattcagccaaaCgtaaggcctctttggctatg	8	8	2	0			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:47424519C>T	ENST00000404338.3	+	1	2587	c.2587C>T	c.(2587-2589)Cgt>Tgt	p.R863C		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	863					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TTCAGCCAAACGTAAGGCCTC	0.438																																						ENST00000404338.3																			0											c.(2587-2589)Cgt>Tgt		Rho GTPase activating protein 35							161	156	157					19																	47424519		1907	4133	6040	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424519C>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2587C>T	19.37:g.47424519C>T	ENSP00000385720:p.Arg863Cys		Somatic					p.R863C	NM_004491.4	NP_004482.4	WXS	Illumina GAIIx	Phase_I	Q9NRY4	RHG35_HUMAN			1	2587	+			863					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2587C>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379579	0.61845	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.48836	0.8	5.79	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72320	-0.4329	10	0.87932	D	0	-12.8124	15.0295	0.71696	0.1436:0.8564:0.0:0.0	.	863	Q9NRY4-2	.	C	863	ENSP00000385720:R863C	ENSP00000324820:R863C	R	+	1	0	ARHGAP35	52116359	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.779000	0.62375	1.413000	0.46997	0.655000	0.94253	CGT		0.438	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		23	36	0	0	0	1	0	23	36					T	47424519	C	T	47424519	3	4	54	1	0	0	0	0	1	0	0	0	6804	536	19	1	2589	1	ARHGAP35	19	47424519	Missense_Mutation	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08	5332679	47424519	11704464	40	9597										
PPP2R1A	5518	broad.mit.edu	37	chr19	52723052	52723052	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	ctgccattgtggagctggctGaggacgccaagtggcgggtg	18	9	0	1			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:52723052G>A	ENST00000322088.6	+	10	1295	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.E234K|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.E358K|CTD-2525I3.3_ENST00000593857.1_RNA	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	413	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GGAGCTGGCTGAGGACGCCAA	0.627			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(1237-1239)Gag>Aag		protein phosphatase 2, regulatory subunit A, alpha							65	59	61					19																	52723052		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52723052G>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1237G>A	19.37:g.52723052G>A	ENSP00000324804:p.Glu413Lys		Somatic				PPP2R1A_ENST00000444322.2_Missense_Mutation_p.E358K|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.E234K	p.E413K	NM_014225.5	NP_055040.2	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	10	1295	+			413			PP2A subunit C binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.1237G>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067156	0.76301	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.16597	2.33;2.33	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000009	T	0.21145	0.0509	L	0.58354	1.805	0.80722	D	1	B;B	0.22080	0.064;0.014	B;B	0.22880	0.042;0.009	T	0.03287	-1.1052	10	0.62326	D	0.03	-33.2243	15.5205	0.75862	0.0:0.0:1.0:0.0	.	358;413	F5H3X9;P30153	.;2AAA_HUMAN	K	403;333;413;358	ENSP00000324804:E413K;ENSP00000415067:E358K	ENSP00000324804:E413K	E	+	1	0	PPP2R1A	57414864	1.000000	0.71417	0.980000	0.43619	0.998000	0.95712	8.647000	0.91057	2.605000	0.88082	0.655000	0.94253	GAG		0.627	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		20	33	0	0	0	1	0	20	33					A	52723052	G	A	52723052	3	1	54	1	0	0	0	0	1	0	0	0	12394	1291	45	3	1275	3	PPP2R1A	19	52723052	Missense_Mutation	SNP	G	TCGA-NG-A4VU-01A-11D-A28R-08	5298533	52723052	6405931	41	9598										
ZNF324	25799	broad.mit.edu	37	chr19	58982178	58982178	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	ataccccacctgggatgactActagcgtcttccctgttgcc	8	15	1	1			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:58982178A>G	ENST00000536459.2	+	4	1028	c.319A>G	c.(319-321)Act>Gct	p.T107A	ZNF324_ENST00000196482.3_Missense_Mutation_p.T107A|ZNF324_ENST00000535298.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	107					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)		TGGGATGACTACTAGCGTCTT	0.552																																						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.(319-321)Act>Gct		zinc finger protein 324							95	103	100					19																	58982178		2203	4300	6503	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982178A>G	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.319A>G	19.37:g.58982178A>G	ENSP00000444812:p.Thr107Ala		Somatic				ZNF324_ENST00000196482.3_Missense_Mutation_p.T107A	p.T107A			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	1028	+		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)	107					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.319A>G	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.578572	0.00879	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101	T;T	0.05319	3.46;3.46	3.29	-6.59	0.01830	.	1.059120	0.07536	N	0.912982	T	0.02380	0.0073	N	0.11201	0.11	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.38045	-0.9679	10	0.11794	T	0.64	.	2.9068	0.05723	0.1258:0.3737:0.311:0.1895	.	107	O75467	Z324A_HUMAN	A	107;107;107;97	ENSP00000196482:T107A;ENSP00000444812:T107A	ENSP00000196482:T107A	T	+	1	0	ZNF324	63673990	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-4.038000	0.00308	-3.546000	0.00143	-0.421000	0.06004	ACT		0.552	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		5	122	0	0	0	1	0	5	122					G	58982178	A	G	58982178	3	3	54	1	0	0	0	0	1	0	0	0	17859	391	14	4	329	4	ZNF324	19	58982178	Missense_Mutation	SNP	A	TCGA-NG-A4VU-01A-11D-A28R-08	6259126	58982178	146805	42	9599										
AP1B1	162	broad.mit.edu	37	chr22	29754889	29754889	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	tcgcacaggtactctgtgatCttgtcaacgcggatgcagcc	11	12	3	1			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr22:29754889C>T	ENST00000405198.1	-	4	382	c.351G>A	c.(349-351)aaG>aaA	p.K117K	AP1B1_ENST00000432560.2_Silent_p.K117K|AP1B1_ENST00000356015.2_Silent_p.K117K|AP1B1_ENST00000317368.7_Silent_p.K117K|AP1B1_ENST00000402502.1_Silent_p.K117K|AP1B1_ENST00000357586.2_Silent_p.K117K|AP1B1_ENST00000415447.1_Silent_p.K117K			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	117					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						ACTCTGTGATCTTGTCAACGC	0.627																																						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.(349-351)aaG>aaA		adaptor-related protein complex 1, beta 1 subunit							82	60	68					22																	29754889		2203	4300	6503	SO:0001819	synonymous_variant	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.chr22:29754889C>T	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.351G>A	22.37:g.29754889C>T			Somatic				AP1B1_ENST00000415447.1_Silent_p.K117K|AP1B1_ENST00000405198.1_Silent_p.K117K|AP1B1_ENST00000356015.2_Silent_p.K117K|AP1B1_ENST00000432560.2_Silent_p.K117K|AP1B1_ENST00000317368.7_Silent_p.K117K|AP1B1_ENST00000402502.1_Silent_p.K117K	p.K117K	NM_001127.3	NP_001118.3	WXS	Illumina GAIIx	Phase_I	Q10567	AP1B1_HUMAN			5	537	-			117					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	ENST00000405198.1	37	c.351G>A	CCDS13855.1																																																																																				0.627	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		8	13	0	0	0	1	0	8	13					T	29754889	C	T	29754889	2	4	54	1	0	0	0	0	0	0	0	1	731	912	32	3		3	AP1B1	22	29754889	Silent	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08		29754889	21549677	43	9600										
EIF3D	8664	broad.mit.edu	37	chr22	36919950	36919950	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	tgaaaatctcacctctctttCtgtttggcactcttaggcag	7	11	4	1			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr22:36919950C>T	ENST00000216190.8	-	5	754	c.384G>A	c.(382-384)caG>caA	p.Q128Q	EIF3D_ENST00000405442.1_Silent_p.Q128Q|EIF3D_ENST00000541106.1_Silent_p.Q79Q	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						ACCTCTCTTTCTGTTTGGCAC	0.502																																						ENST00000216190.8																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						c.(382-384)caG>caA		eukaryotic translation initiation factor 3, subunit D							194	161	172					22																	36919950		2203	4300	6503	SO:0001819	synonymous_variant	8664					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:36919950C>T	U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.384G>A	22.37:g.36919950C>T			Somatic				EIF3D_ENST00000541106.1_Silent_p.Q79Q|EIF3D_ENST00000405442.1_Silent_p.Q128Q	p.Q128Q	NM_003753.3	NP_003744.1	WXS	Illumina GAIIx	Phase_I	O15371	EIF3D_HUMAN			5	754	-			128						Silent	SNP	ENST00000216190.8	37	c.384G>A	CCDS13930.1																																																																																				0.502	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1			35	28	0	0	0	1	0	35	28					T	36919950	C	T	36919950	2	4	54	1	0	0	0	0	0	0	0	1	5016	912	32	3		3	EIF3D	22	36919950	Silent	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08	7165061	36919950	14384616	44	9601										
MAGEC2	51438	broad.mit.edu	37	chrX	141291113	141291113	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.177777777777778	8	0.396754940234723	2.02298850574713	2.08620689655172	2.00275862068966	0.131934731934732	0.605042016806723	0	gttctcgggcatgccctcatCatcactaccctcatcggtga	8	15	5	1			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chrX:141291113C>G	ENST00000247452.3	-	3	1008	c.661G>C	c.(661-663)Gat>Cat	p.D221H		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	221	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCCCTCATCATCACTACCC	0.502										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(661-663)Gat>Cat		melanoma antigen family C, 2							110	99	103					X																	141291113		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291113C>G	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.661G>C	X.37:g.141291113C>G	ENSP00000354660:p.Asp221His	HNSCC(46;0.14)	Somatic					p.D221H	NM_016249.3	NP_057333.1	WXS	Illumina GAIIx	Phase_I	Q9UBF1	MAGC2_HUMAN			3	1008	-	Acute lymphoblastic leukemia(192;6.56e-05)		221			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.661G>C	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	8.277	0.814773	0.16607	.	.	ENSG00000046774	ENST00000247452	T	0.05139	3.49	0.988	-1.83	0.07833	.	0.845094	0.10005	U	0.727978	T	0.11665	0.0284	M	0.62723	1.935	0.09310	N	1	P	0.44877	0.845	P	0.53988	0.739	T	0.17561	-1.0365	10	0.59425	D	0.04	.	1.6532	0.02776	0.3278:0.3991:0.0:0.2731	.	221	Q9UBF1	MAGC2_HUMAN	H	221	ENSP00000354660:D221H	ENSP00000354660:D221H	D	-	1	0	MAGEC2	141118779	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.380000	0.07427	-0.738000	0.04817	0.284000	0.19432	GAT		0.502	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		51	8	0	0	0	1	0	51	8					G	141291113	C	G	141291113	3	3	54	1	0	0	0	0	1	0	0	0	9190	826	29	2	464	2	MAGEC2	23	141291113	Missense_Mutation	SNP	C	TCGA-NG-A4VU-01A-11D-A28R-08		141291113	13979447	45	9602										
MYOM3	127294	broad.mit.edu	37	chr1	24390563	24390563	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	acccatcgccagctcctaccGtcacccgtgaggtccaatat	7	17	1	1	rs372739261		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:24390563G>A	ENST00000374434.3	-	30	3783	c.3621C>T	c.(3619-3621)gaC>gaT	p.D1207D	MYOM3_ENST00000330966.7_Splice_Site_p.D1210D|MYOM3_ENST00000338909.5_Splice_Site_p.D100D|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1207						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)		AGCTCCTACCGTCACCCGTGA	0.522																																						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.e30+1		myomesin 3		G		0,4244		0,0,2122	99	108	105		3621	4.7	1	1		105	1,8477		0,1,4238	no	coding-synonymous-near-splice	MYOM3	NM_152372.3		0,1,6360	AA,AG,GG		0.0118,0.0,0.0079		1207/1438	24390563	1,12721	2122	4239	6361	SO:0001630	splice_region_variant	127294							g.chr1:24390563G>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.3622+1C>T	1.37:g.24390563G>A			Somatic				RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Splice_Site_p.D1207_splice|MYOM3_ENST00000338909.5_Splice_Site_p.D100_splice	p.D1210_splice			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)	30	3792	-		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)	1207					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Splice_Site	SNP	ENST00000374434.3	37	c.3631_splice	CCDS41281.1																																																																																				0.522	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372	Silent	12	68	0	0	0	1	0	12	68					A	24390563	G	A	24390563	5	1	55	1	0	0	0	0	0	0	1	0	10102	1159	40	1	724	1	MYOM3	1	24390563	Splice_Site	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08		24390563	224860058	1	9603										
ZBTB7B	51043	broad.mit.edu	37	chr1	154988215	154988215	+	Missense_Mutation	SNP	A	A	G													0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	gatcatccatggggcaggcaAactgcctcgccacatgagga							TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:154988215A>G	ENST00000368426.3	+	3	1216	c.1079A>G	c.(1078-1080)aAa>aGa	p.K360R	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.K360R|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.K360R|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.K394R	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	360					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)			GGGGCAGGCAAACTGCCTCGC	0.632																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(1078-1080)aAa>aGa		zinc finger and BTB domain containing 7B							47	53	51					1																	154988215		2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988215A>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.1079A>G	1.37:g.154988215A>G	ENSP00000357411:p.Lys360Arg		Somatic				ZBTB7B_ENST00000535420.1_Missense_Mutation_p.K360R|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.K360R|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.K394R	p.K360R	NM_001256455.1	NP_001243384.1	WXS	Illumina GAIIx	Phase_I	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	1216	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		360					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.1079A>G	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	a	16.13	3.035658	0.54896	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	4.08	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.20700	0.0498	L	0.32530	0.975	0.38211	D	0.940469	P;P;P	0.43094	0.799;0.799;0.799	P;B;P	0.46339	0.513;0.411;0.513	T	0.03249	-1.1056	10	0.46703	T	0.11	.	11.0466	0.47863	1.0:0.0:0.0:0.0	.	360;360;394	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	R	360;360;394;360	ENSP00000438647:K360R;ENSP00000357411:K360R;ENSP00000406286:K394R;ENSP00000292176:K360R	ENSP00000292176:K360R	K	+	2	0	ZBTB7B	153254839	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	7.311000	0.78958	1.713000	0.51359	0.379000	0.24179	AAA		0.632	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		17	117	0	0	0	1	0	17	117					G	154988215	A	G	154988215	3	3	55	1	0	0	0	0	1	0	0	0	17569	14	1	4	1081	4	ZBTB7B	1	154988215	Missense_Mutation	SNP	A	TCGA-NG-A4VW-01A-11D-A28R-08	130597652	154988215	94262406	2	9604	27	2								
ZBTB7B	51043	broad.mit.edu	37	chr1	154988223	154988223	+	Missense_Mutation	SNP	C	C	T													0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	atggggcaggcaaactgcctCgccacatgaggacccacaca							TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:154988223C>T	ENST00000368426.3	+	3	1224	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R363C|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R363C|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R397C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	363					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)			CAAACTGCCTCGCCACATGAG	0.637																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(1087-1089)Cgc>Tgc		zinc finger and BTB domain containing 7B							47	53	51					1																	154988223		2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988223C>T	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.1087C>T	1.37:g.154988223C>T	ENSP00000357411:p.Arg363Cys		Somatic				ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R363C|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R363C|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R397C	p.R363C	NM_001256455.1	NP_001243384.1	WXS	Illumina GAIIx	Phase_I	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	1224	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		363					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.1087C>T	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	c	18.61	3.660813	0.67700	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	4.08	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.33235	0.0856	L	0.48362	1.52	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.07501	-1.0769	10	0.54805	T	0.06	.	13.8102	0.63260	0.0:1.0:0.0:0.0	.	363;363;397	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	C	363;363;397;363	ENSP00000438647:R363C;ENSP00000357411:R363C;ENSP00000406286:R397C;ENSP00000292176:R363C	ENSP00000292176:R363C	R	+	1	0	ZBTB7B	153254847	0.915000	0.31059	0.986000	0.45419	0.916000	0.54674	1.927000	0.40094	2.109000	0.64355	0.462000	0.41574	CGC		0.637	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		69	72	0	0	0	1	0	69	72					T	154988223	C	T	154988223	3	4	55	1	0	0	0	0	1	0	0	0	17569	884	31	1	1089	1	ZBTB7B	1	154988223	Missense_Mutation	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08	8	154988223	94262398	3	9605	27	2								
C1orf112	55732	broad.mit.edu	37	chr1	169821955	169821955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	atgcaaaaagagctcgtcagGagttcccctgggaagaagag	13	8	1	3			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:169821955G>A	ENST00000286031.6	+	24	3089	c.2389G>A	c.(2389-2391)Gag>Aag	p.E797K	C1orf112_ENST00000359326.4_Missense_Mutation_p.E797K|SCYL3_ENST00000367772.4_3'UTR|C1orf112_ENST00000498289.1_3'UTR|SCYL3_ENST00000367771.6_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	797										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCTCGTCAGGAGTTCCCCTG	0.443																																						ENST00000286031.6																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(2389-2391)Gag>Aag		chromosome 1 open reading frame 112							83	93	89					1																	169821955		2203	4300	6503	SO:0001583	missense	55732							g.chr1:169821955G>A	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.2389G>A	1.37:g.169821955G>A	ENSP00000286031:p.Glu797Lys		Somatic				SCYL3_ENST00000367772.4_3'UTR|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.E797K	p.E797K	NM_018186.2	NP_060656.2	WXS	Illumina GAIIx	Phase_I	Q9NSG2	CA112_HUMAN			24	3089	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		797					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	c.2389G>A	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679886	0.88542	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	T;T	0.51817	0.69;0.69	5.42	5.42	0.78866	.	0.169966	0.51477	D	0.000094	T	0.43433	0.1247	M	0.72118	2.19	0.80722	D	1	P	0.43352	0.804	P	0.45558	0.485	T	0.40701	-0.9549	10	0.39692	T	0.17	-0.9224	14.711	0.69232	0.0:0.0:1.0:0.0	.	797	Q9NSG2	CA112_HUMAN	K	797	ENSP00000352276:E797K;ENSP00000286031:E797K	ENSP00000286031:E797K	E	+	1	0	C1orf112	168088579	0.964000	0.33143	0.006000	0.13384	0.301000	0.27625	4.116000	0.57871	2.527000	0.85204	0.591000	0.81541	GAG		0.443	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		26	172	0	0	0	1	0	26	172					A	169821955	G	A	169821955	3	1	55	1	0	0	0	0	1	0	0	0	1987	1175	41	3	2475	3	C1orf112	1	169821955	Missense_Mutation	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08	14833732	169821955	79428666	4	9606										
GLRX2	51022	broad.mit.edu	37	chr1	193070293	193070293	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	ggatctggttcacaggcgccGtcgctaaattctccaaagat	10	11	3	1	rs535022976		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:193070293G>T	ENST00000367439.3	-	2	209	c.161C>A	c.(160-162)aCg>aAg	p.T54K	GLRX2_ENST00000367440.3_Missense_Mutation_p.T55K|GLRX2_ENST00000472197.1_5'UTR	NM_197962.2	NP_932066.1	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	54					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|DNA protection (GO:0042262)|glutathione metabolic process (GO:0006749)|protein folding (GO:0006457)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|response to hydrogen peroxide (GO:0042542)|response to organic substance (GO:0010033)|response to redox state (GO:0051775)|response to temperature stimulus (GO:0009266)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|arsenate reductase (glutaredoxin) activity (GO:0008794)|electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|metal ion binding (GO:0046872)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	CACAGGCGCCGTCGCTAAATT	0.343													G|||	1	0.000199681	0	0	5008	,	,		15490	0		0	False		,,,				2504	0.001					ENST00000367440.3																			0				breast(1)|large_intestine(1)|lung(3)	5						c.(163-165)aCg>aAg		glutaredoxin 2	Glutathione(DB00143)						75	73	73					1																	193070293		2203	4300	6503	SO:0001583	missense	51022				apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity	g.chr1:193070293G>T	AF132495	CCDS1380.1, CCDS1381.1	1q31.2	2012-09-20			ENSG00000023572	ENSG00000023572			16065	protein-coding gene	gene with protein product	"bA101E13.1 (GRX2 glutaredoxin (thioltransferase) 2)"	606820				11297543	Standard	NM_016066		Approved	GRX2, bA101E13.1	uc001gsz.2	Q9NS18	OTTHUMG00000035677	ENST00000367439.3:c.161C>A	1.37:g.193070293G>T	ENSP00000356409:p.Thr54Lys		Somatic				GLRX2_ENST00000367439.3_Missense_Mutation_p.T54K|GLRX2_ENST00000472197.1_5'UTR	p.T55K	NM_001243399.1|NM_016066.4	NP_001230328.1|NP_057150.2	WXS	Illumina GAIIx	Phase_I	Q9NS18	GLRX2_HUMAN			2	639	-			54					Q3LR69|Q7L1N7|Q96JC0|Q9Y3D4	Missense_Mutation	SNP	ENST00000367439.3	37	c.164C>A	CCDS1381.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926818	0.34002	.	.	ENSG00000023572	ENST00000367439;ENST00000367440	T;T	0.32023	1.47;1.49	5.0	0.391	0.16282	.	0.993742	0.08190	N	0.984069	T	0.23846	0.0577	L	0.55481	1.735	0.09310	N	1	B;B	0.33120	0.398;0.191	B;B	0.29716	0.106;0.016	T	0.25012	-1.0144	10	0.19590	T	0.45	-0.0326	5.4364	0.16484	0.2659:0.0:0.5948:0.1393	.	55;54	Q9NS18-2;Q9NS18	.;GLRX2_HUMAN	K	54;55	ENSP00000356409:T54K;ENSP00000356410:T55K	ENSP00000356409:T54K	T	-	2	0	GLRX2	191336916	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.539000	0.06113	0.126000	0.18424	0.655000	0.94253	ACG		0.343	GLRX2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086699.1	NM_016066		6	50	1	0	3.59834e-05	1	3.64696e-05	6	50					T	193070293	G	T	193070293	3	4	55	1	0	0	0	0	1	0	0	0	6468	1145	40	5	345	5	GLRX2	1	193070293	Missense_Mutation	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08	23248338	193070293	56180328	5	9607										
C1orf106	55765	broad.mit.edu	37	chr1	200880764	200880764	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	gacgtctccagcatctcccaCcccacttcgccgggcagcag	9	19	2	0			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:200880764C>A	ENST00000367342.4	+	9	1598	c.1398C>A	c.(1396-1398)caC>caA	p.H466Q	C1orf106_ENST00000413687.2_Missense_Mutation_p.H381Q	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	466										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCATCTCCCACCCCACTTCGC	0.677																																						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.(1396-1398)caC>caA		chromosome 1 open reading frame 106							76	83	80					1																	200880764		2203	4300	6503	SO:0001583	missense	55765							g.chr1:200880764C>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.1398C>A	1.37:g.200880764C>A	ENSP00000356311:p.His466Gln		Somatic				C1orf106_ENST00000413687.2_Missense_Mutation_p.H381Q	p.H466Q	NM_018265.3	NP_060735.3	WXS	Illumina GAIIx	Phase_I	Q3KP66	CA106_HUMAN			9	1598	+			466					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37	c.1398C>A		.	.	.	.	.	.	.	.	.	.	C	16.05	3.014146	0.54468	.	.	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.32515	1.45;1.45	4.75	2.81	0.32909	.	0.086995	0.52532	D	0.000068	T	0.22781	0.0550	N	0.24115	0.695	0.27851	N	0.940732	D	0.56968	0.978	P	0.49140	0.601	T	0.04946	-1.0916	10	0.29301	T	0.29	-22.4085	6.8646	0.24086	0.0:0.6936:0.0:0.3064	.	466	Q3KP66	CA106_HUMAN	Q	466;381	ENSP00000356311:H466Q;ENSP00000392105:H381Q	ENSP00000356311:H466Q	H	+	3	2	C1orf106	199147387	0.910000	0.30920	1.000000	0.80357	0.634000	0.38068	0.285000	0.18883	0.965000	0.38133	0.555000	0.69702	CAC		0.677	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		30	263	1	0	2.25844e-05	1	2.32031e-05	30	263					A	200880764	C	A	200880764	3	1	55	1	0	0	0	0	1	0	0	0	1982	506	18	5	1432	5	C1orf106	1	200880764	Missense_Mutation	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08	7810471	200880764	48369857	6	9608										
CR1	1378	broad.mit.edu	37	chr1	207790017	207790017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	aaagaaatatcttacgcatgCgacacccacccagacagagg	8	12	1	3			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:207790017C>T	ENST00000367049.4	+	41	6759	c.6759C>T	c.(6757-6759)tgC>tgT	p.C2253C	CR1_ENST00000367051.1_Silent_p.C1803C|CR1_ENST00000400960.2_Silent_p.C1803C|CR1_ENST00000367052.1_Silent_p.C1803C|CR1_ENST00000367053.1_Silent_p.C1803C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1803					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						CTTACGCATGCGACACCCACC	0.498																																						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.(6757-6759)tgC>tgT		complement component (3b/4b) receptor 1 (Knops blood group)							142	137	139					1																	207790017		1924	4129	6053	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207790017C>T	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.6759C>T	1.37:g.207790017C>T			Somatic				CR1_ENST00000367051.1_Silent_p.C1803C|CR1_ENST00000367052.1_Silent_p.C1803C|CR1_ENST00000367053.1_Silent_p.C1803C|CR1_ENST00000400960.2_Silent_p.C1803C	p.C2253C	NM_000651.4	NP_000642.3	WXS	Illumina GAIIx	Phase_I	P17927	CR1_HUMAN			41	6759	+			1803					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.6759C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.342195	0.01277	.	.	ENSG00000203710	ENST00000529814	.	.	.	4.15	-1.35	0.09114	.	.	.	.	.	T	0.31327	0.0793	.	.	.	0.20638	N	0.999873	.	.	.	.	.	.	T	0.33007	-0.9885	4	.	.	.	.	8.0389	0.30511	0.0:0.5164:0.0:0.4836	rs55775404	.	.	.	V	426	.	.	A	+	2	0	CR1	205856640	0.319000	0.24607	0.014000	0.15608	0.037000	0.13140	-0.190000	0.09615	-0.233000	0.09797	-0.320000	0.08662	GCG		0.498	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		82	139	0	0	0	1	0	82	139					T	207790017	C	T	207790017	2	4	55	1	0	0	0	0	0	0	0	1	3842	776	27	1		1	CR1	1	207790017	Silent	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08	6909253	207790017	41460604	7	9609										
EML4	27436	broad.mit.edu	37	chr2	42522396	42522396	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	acaagaaaacagggaattttTggggtaagaatcagattgtt	11	3	1	3			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr2:42522396T>G	ENST00000318522.5	+	12	1612	c.1350T>G	c.(1348-1350)ttT>ttG	p.F450L	EML4_ENST00000402711.2_Missense_Mutation_p.F392L|EML4_ENST00000401738.3_Missense_Mutation_p.F461L	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	450					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGGGAATTTTTGGGGTAAGAA	0.328			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1348-1350)ttT>ttG		echinoderm microtubule associated protein like 4							88	91	90					2																	42522396		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42522396T>G	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1350T>G	2.37:g.42522396T>G	ENSP00000320663:p.Phe450Leu		Somatic				EML4_ENST00000402711.2_Missense_Mutation_p.F392L|EML4_ENST00000401738.3_Missense_Mutation_p.F461L	p.F450L	NM_019063.3	NP_061936.2	WXS	Illumina GAIIx	Phase_I	Q9HC35	EMAL4_HUMAN			12	1612	+			450					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.1350T>G	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095333	0.76870	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.41400	1.0;1.05;1.05	5.33	4.14	0.48551	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.60663	0.2286	M	0.66939	2.045	0.80722	D	1	D;D;D	0.71674	0.998;0.987;0.998	D;P;D	0.75484	0.96;0.886;0.986	T	0.62062	-0.6933	10	0.56958	D	0.05	-15.4129	12.5308	0.56113	0.0:0.0:0.1393:0.8607	.	392;461;450	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	L	450;392;461	ENSP00000320663:F450L;ENSP00000385059:F392L;ENSP00000384939:F461L	ENSP00000320663:F450L	F	+	3	2	EML4	42375900	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.751000	0.47508	0.934000	0.37316	0.533000	0.62120	TTT		0.328	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		10	54	0	0	0	1	0	10	54					G	42522396	T	G	42522396	3	3	55	1	0	0	0	0	1	0	0	0	5101	1809	63	4	1396	4	EML4	2	42522396	Missense_Mutation	SNP	T	TCGA-NG-A4VW-01A-11D-A28R-08		42522396	200676977	8	9610										
CNGA3	1261	broad.mit.edu	37	chr2	98999903	98999903	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	ccagcaacaacacggaggagGagtaagtacccacacaccca	9	14	0	0			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr2:98999903G>A	ENST00000272602.2	+	4	487	c.448G>A	c.(448-450)Gag>Aag	p.E150K	CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000393504.1_Splice_Site_p.E150K|CNGA3_ENST00000409937.1_Splice_Site_p.E154K			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	150					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)			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						CACGGAGGAGGAGTAAGTACC	0.592																																						ENST00000393504.1																			0				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.e5+1		cyclic nucleotide gated channel alpha 3							120	104	110					2																	98999903		2203	4300	6503	SO:0001630	splice_region_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:98999903G>A	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.449+1G>A	2.37:g.98999903G>A			Somatic				CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000409937.1_Splice_Site_p.E154_splice|CNGA3_ENST00000272602.2_Splice_Site_p.E150_splice	p.E150_splice	NM_001298.2	NP_001289.1	WXS	Illumina GAIIx	Phase_I	Q16281	CNGA3_HUMAN			5	865	+			150					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Splice_Site	SNP	ENST00000272602.2	37	c.449_splice	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	G	7.343	0.621387	0.14193	.	.	ENSG00000144191	ENST00000393504;ENST00000272602;ENST00000409937	D;D;D	0.97430	-4.22;-4.22;-4.38	4.89	2.08	0.27032	.	0.891913	0.09456	U	0.799814	D	0.85647	0.5745	N	0.00778	-1.195	0.22710	N	0.99883	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.77186	-0.2680	10	0.02654	T	1	.	8.3407	0.32241	0.2617:0.0:0.7383:0.0	.	154;150	E9PF93;Q16281	.;CNGA3_HUMAN	K	150;150;154	ENSP00000377140:E150K;ENSP00000272602:E150K;ENSP00000386761:E154K	ENSP00000272602:E150K	E	+	1	0	CNGA3	98366335	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	3.910000	0.56371	0.683000	0.31428	-0.142000	0.14014	GAG		0.592	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298	Missense_Mutation	19	75	0	0	0	1	0	19	75					A	98999903	G	A	98999903	5	1	55	1	0	0	0	0	0	0	1	0	3600	1188	41	3	462	3	CNGA3	2	98999903	Splice_Site	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08	56477507	98999903	144199470	9	9611										
WNT10A	80326	broad.mit.edu	37	chr2	219747080	219747080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	acaccaattcagggaccagcGctggaactgctcaagcctgg	11	13	2	0	rs374910216		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr2:219747080G>A	ENST00000258411.3	+	2	944	c.311G>A	c.(310-312)cGc>cAc	p.R104H		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	104					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGACCAGCGCTGGAACTGC	0.597																																						ENST00000258411.3																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12						c.(310-312)cGc>cAc		wingless-type MMTV integration site family, member 10A							99	94	96					2																	219747080		2203	4300	6503	SO:0001583	missense	80326				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219747080G>A	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"Wingless-type MMTV integration sites"	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.311G>A	2.37:g.219747080G>A	ENSP00000258411:p.Arg104His		Somatic					p.R104H	NM_025216.2	NP_079492.2	WXS	Illumina GAIIx	Phase_I	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	944	+		Renal(207;0.0474)	104					Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	37	c.311G>A	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049528	0.93740	.	.	ENSG00000135925	ENST00000258411	T	0.80909	-1.43	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.92361	0.7576	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94384	0.7607	10	0.87932	D	0	.	17.2994	0.87178	0.0:0.0:1.0:0.0	.	104	Q9GZT5	WN10A_HUMAN	H	104	ENSP00000258411:R104H	ENSP00000258411:R104H	R	+	2	0	WNT10A	219455324	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.389000	0.97243	2.334000	0.79466	0.462000	0.41574	CGC		0.597	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216		16	112	0	0	0	1	0	16	112					A	219747080	G	A	219747080	3	1	55	1	0	0	0	0	1	0	0	0	17397	1087	38	1	317	1	WNT10A	2	219747080	Missense_Mutation	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08	120747177	219747080	23452293	10	9612										
DNAH1	25981	broad.mit.edu	37	chr3	52395770	52395770	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	atcaccaccatccagaaggcGcagcagcagcgggtgagccc	12	15	1	2	rs190849840		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr3:52395770G>A	ENST00000420323.2	+	30	5229	c.4968G>A	c.(4966-4968)gcG>gcA	p.A1656A	DNAH1_ENST00000466628.1_Intron	NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1656	AAA 1. {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)		TCCAGAAGGCGCAGCAGCAGC	0.632																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(4966-4968)gcG>gcA		dynein, axonemal, heavy chain 1							27	32	30					3																	52395770		2184	4289	6473	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.chr3:52395770G>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.4968G>A	3.37:g.52395770G>A			Somatic				DNAH1_ENST00000466628.1_Intron	p.A1656A	NM_015512.4	NP_056327.4	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)	30	5229	+			1656			AAA 1 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.4968G>A	CCDS46842.1																																																																																				0.632	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		3	24	0	0	0	1	0	3	24					A	52395770	G	A	52395770	2	1	55	1	0	0	0	0	0	0	0	1	4599	1074	38	1		1	DNAH1	3	52395770	Silent	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08		52395770	145626660	11	9613										
TMPRSS7	344805	broad.mit.edu	37	chr3	111797605	111797605	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	gcagataataaaggctccctCgttctgcagcaagcggaggt	12	10	1	1			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr3:111797605C>T	ENST00000452346.2	+	17	2244	c.2241C>T	c.(2239-2241)ctC>ctT	p.L747L	TMPRSS7_ENST00000419127.1_Silent_p.L621L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	747	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAGGCTCCCTCGTTCTGCAGC	0.443																																						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.(2239-2241)ctC>ctT		transmembrane protease, serine 7							102	102	102					3																	111797605		1944	4127	6071	SO:0001819	synonymous_variant	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111797605C>T	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2241C>T	3.37:g.111797605C>T			Somatic				TMPRSS7_ENST00000419127.1_Silent_p.L621L	p.L747L			WXS	Illumina GAIIx	Phase_I	Q7RTY8	TMPS7_HUMAN			17	2244	+			747			Peptidase S1.		C9J8P7|E9PAS3|Q17RH4	Silent	SNP	ENST00000452346.2	37	c.2241C>T																																																																																					0.443	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		16	51	0	0	0	1	0	16	51					T	111797605	C	T	111797605	2	4	55	1	0	0	0	0	0	0	0	1	16267	871	31	1		1	TMPRSS7	3	111797605	Silent	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08	59401835	111797605	86224825	12	9614										
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	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	atcctctctctgaaatcactGagcaggagaaagattttcta	7	9	4	4	rs104886003		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	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			7	28	0	0	0	1	0	7	28					A	178936091	G	A	178936091	3	1	55	1	0	0	0	0	1	0	0	0	11922	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08	67138486	178936091	19086339	13	9615										
C4orf40	401137	broad.mit.edu	37	chr4	71021774	71021774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	atttttctttattttagagaCggttccccttcattggtgag	8	7	2	2	rs577881430	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr4:71021774C>T	ENST00000344526.5	+	2	244	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.R19W	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		19						extracellular vesicular exosome (GO:0070062)		p.R19W(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ATTTTAGAGACGGTTCCCCTT	0.259													C|||	2	0.000399361	0	0	5008	,	,		14117	0		0	False		,,,				2504	0.002					ENST00000344526.5																			1	Substitution - Missense(1)	p.R19W(1)	breast(1)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(55-57)Cgg>Tgg		chromosome 4 open reading frame 40							36	38	37					4																	71021774		2197	4277	6474	SO:0001583	missense	401137					extracellular region		g.chr4:71021774C>T																												ENST00000344526.5:c.55C>T	4.37:g.71021774C>T	ENSP00000343172:p.Arg19Trp		Somatic				C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.R19W	p.R19W	NM_214711.3	NP_999876.2	WXS	Illumina GAIIx	Phase_I	Q6MZM9	CD040_HUMAN			2	244	+			19					A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	c.55C>T	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118357	0.37339	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.53857	0.6;0.6	3.32	0.36	0.16097	.	.	.	.	.	T	0.49864	0.1582	N	0.14661	0.345	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.37478	-0.9704	9	0.72032	D	0.01	-1.7275	5.6024	0.17361	0.0:0.5813:0.0:0.4187	.	19	Q6MZM9	CD040_HUMAN	W	19	ENSP00000426249:R19W;ENSP00000343172:R19W	ENSP00000343172:R19W	R	+	1	2	C4orf40	71056363	0.006000	0.16342	0.004000	0.12327	0.030000	0.12068	-0.174000	0.09839	0.032000	0.15435	0.603000	0.83216	CGG		0.259	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			6	27	0	0	0	1	0	6	27					T	71021774	C	T	71021774	3	4	55	1	0	0	0	0	1	0	0	0	2271	527	19	1	61	1	C4orf40	4	71021774	Missense_Mutation	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08		71021774	120132502	14	9616										
RXFP1	59350	broad.mit.edu	37	chr4	159573042	159573042	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	tataactacagacaaagaaaAtctatggacagcaaaggtca	7	7	2	2			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr4:159573042A>C	ENST00000307765.5	+	18	2360	c.2109A>C	c.(2107-2109)aaA>aaC	p.K703N	RXFP1_ENST00000343542.5_Missense_Mutation_p.K655N|RXFP1_ENST00000470033.1_Missense_Mutation_p.K670N|RXFP1_ENST00000448688.2_Missense_Mutation_p.K598N|RXFP1_ENST00000460056.2_Missense_Mutation_p.K622N	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	703					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)		GACAAAGAAAATCTATGGACA	0.423																																						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.(2107-2109)aaA>aaC		relaxin/insulin-like family peptide receptor 1							114	105	108					4																	159573042		1881	4104	5985	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159573042A>C	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.2109A>C	4.37:g.159573042A>C	ENSP00000303248:p.Lys703Asn		Somatic				RXFP1_ENST00000343542.5_Missense_Mutation_p.K655N|RXFP1_ENST00000448688.2_Missense_Mutation_p.K598N|RXFP1_ENST00000460056.2_Missense_Mutation_p.K622N|RXFP1_ENST00000470033.1_Missense_Mutation_p.K670N	p.K703N	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)	18	2360	+	all_hematologic(180;0.24)	Renal(120;0.0854)	703					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.2109A>C	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.850773	0.32699	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.75	0.0364	0.14191	.	0.086182	0.85682	D	0.000000	T	0.19685	0.0473	N	0.19112	0.55	0.24761	N	0.992925	B;B;B;B;B;B;B;B	0.16603	0.008;0.008;0.002;0.018;0.004;0.0;0.008;0.002	B;B;B;B;B;B;B;B	0.21151	0.024;0.015;0.015;0.028;0.033;0.002;0.024;0.015	T	0.13388	-1.0511	10	0.39692	T	0.17	.	6.8978	0.24265	0.4811:0.1233:0.3956:0.0	.	714;730;598;655;670;622;573;703	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	N	622;703;598;655;670;573	ENSP00000423306:K622N;ENSP00000303248:K703N;ENSP00000414885:K598N;ENSP00000345889:K655N;ENSP00000420712:K670N	ENSP00000303248:K703N	K	+	3	2	RXFP1	159792492	1.000000	0.71417	0.982000	0.44146	0.475000	0.33008	1.110000	0.31147	-0.050000	0.13356	-0.274000	0.10170	AAA		0.423	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		9	62	0	0	0	1	0	9	62					C	159573042	A	C	159573042	3	2	55	1	0	0	0	0	1	0	0	0	13774	98	4	4	2179	4	RXFP1	4	159573042	Missense_Mutation	SNP	A	TCGA-NG-A4VW-01A-11D-A28R-08	88551268	159573042	31581234	15	9617										
PCDHB11	56125	broad.mit.edu	37	chr5	140581324	140581324	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	tcggccaccgccacgctgcaAgtgctcctggtggacggctt	13	15	0	0	rs140763995	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr5:140581324A>C	ENST00000354757.3	+	1	1977	c.1977A>C	c.(1975-1977)caA>caC	p.Q659H	PCDHB11_ENST00000536699.1_Missense_Mutation_p.Q294H	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	659	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q659H(1)		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)			CCACGCTGCAAGTGCTCCTGG	0.711													a|||	20	0.00399361	0.0106	0	5008	,	,		13848	0		0.004	False		,,,				2504	0.002					ENST00000354757.3																			1	Substitution - Missense(1)	p.Q659H(1)	urinary_tract(1)	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.(1975-1977)caA>caC									29	32	31					5																	140581324		2156	4238	6394	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140581324A>C	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.1977A>C	5.37:g.140581324A>C	ENSP00000346802:p.Gln659His		Somatic				PCDHB11_ENST00000536699.1_Missense_Mutation_p.Q294H	p.Q659H	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	1977	+			659			Cadherin 6.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.1977A>C	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	a	0.010	-1.793559	0.00623	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.52057	0.68;0.68	2.77	-3.81	0.04294	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.12135	0.0295	N	0.01091	-1.02	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30327	-0.9982	9	0.02654	T	1	.	4.9965	0.14242	0.1445:0.3472:0.0:0.5083	.	659	Q9Y5F2	PCDBB_HUMAN	H	294;659	ENSP00000440344:Q294H;ENSP00000346802:Q659H	ENSP00000346802:Q659H	Q	+	3	2	PCDHB11	140561508	0.000000	0.05858	0.859000	0.33776	0.627000	0.37826	-3.552000	0.00433	-0.668000	0.05296	-1.913000	0.00520	CAA		0.711	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		5	123	0	0	0	1	0	5	123					C	140581324	A	C	140581324	3	2	55	1	0	0	0	0	1	0	0	0	11545	69	3	4	1979	4	PCDHB11	5	140581324	Missense_Mutation	SNP	A	TCGA-NG-A4VW-01A-11D-A28R-08		140581324	40333936	16	9618										
TAF7	6879	broad.mit.edu	37	chr5	140699511	140699511	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	ccttgaggttgacatgaccaGactgtactgcccttctcaca	8	13	1	4			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr5:140699511G>A	ENST00000313368.5	-	1	819	c.101C>T	c.(100-102)tCt>tTt	p.S34F		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	34					DNA-templated transcription, initiation (GO:0006352)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of histone acetylation (GO:0035067)|negative regulation of protein kinase activity (GO:0006469)|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)|spermine transport (GO:0000296)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	histone acetyltransferase binding (GO:0035035)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|vitamin D receptor binding (GO:0042809)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACATGACCAGACTGTACTGC	0.468																																						ENST00000313368.5																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12						c.(100-102)tCt>tTt		TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa							184	167	173					5																	140699511		2203	4300	6503	SO:0001583	missense	6879				negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding	g.chr5:140699511G>A	AF349038	CCDS4259.1	5q31	2008-02-05	2002-08-29	2001-12-07	ENSG00000178913	ENSG00000178913			11541	protein-coding gene	gene with protein product		600573	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD"	TAF2F		7824954	Standard	NM_005642		Approved	TAFII55	uc003ljg.3	Q15545	OTTHUMG00000129628	ENST00000313368.5:c.101C>T	5.37:g.140699511G>A	ENSP00000312709:p.Ser34Phe		Somatic					p.S34F	NM_005642.2	NP_005633.2	WXS	Illumina GAIIx	Phase_I	Q15545	TAF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	819	-			34					B2RBV9|Q13036	Missense_Mutation	SNP	ENST00000313368.5	37	c.101C>T	CCDS4259.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693653	0.88735	.	.	ENSG00000178913	ENST00000313368	T	0.26067	1.76	5.61	5.61	0.85477	TAFII55 protein, conserved region (1);	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.59354	-0.7470	10	0.87932	D	0	-8.953	17.5109	0.87760	0.0:0.0:1.0:0.0	.	34	Q15545	TAF7_HUMAN	F	34	ENSP00000312709:S34F	ENSP00000312709:S34F	S	-	2	0	TAF7	140679695	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.756000	0.91651	2.826000	0.97356	0.655000	0.94253	TCT		0.468	TAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251823.2	NM_005642		17	85	0	0	0	1	0	17	85					A	140699511	G	A	140699511	3	1	55	1	0	0	0	0	1	0	0	0	15547	942	33	3	952	3	TAF7	5	140699511	Missense_Mutation	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08	118187	140699511	40215749	17	9619										
TNIP1	10318	broad.mit.edu	37	chr5	150436454	150436454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	cctcggcacacacactcagcGtggtctccaggcgctgcagg	12	16	2	0			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr5:150436454G>A	ENST00000389378.2	-	6	1088	c.500C>T	c.(499-501)aCg>aTg	p.T167M	TNIP1_ENST00000523200.1_Missense_Mutation_p.T167M|TNIP1_ENST00000522226.1_Missense_Mutation_p.T167M|TNIP1_ENST00000520931.1_Missense_Mutation_p.T114M|TNIP1_ENST00000524280.1_Missense_Mutation_p.T167M|TNIP1_ENST00000315050.7_Missense_Mutation_p.T167M|TNIP1_ENST00000518977.1_Missense_Mutation_p.T167M|TNIP1_ENST00000521591.1_Missense_Mutation_p.T167M|TNIP1_ENST00000523338.1_Missense_Mutation_p.T167M	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	167	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACACTCAGCGTGGTCTCCAG	0.672																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(499-501)aCg>aTg		TNFAIP3 interacting protein 1							35	36	35					5																	150436454		2203	4299	6502	SO:0001583	missense	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150436454G>A	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.500C>T	5.37:g.150436454G>A	ENSP00000374029:p.Thr167Met		Somatic				TNIP1_ENST00000522226.1_Missense_Mutation_p.T167M|TNIP1_ENST00000520931.1_Missense_Mutation_p.T114M|TNIP1_ENST00000524280.1_Missense_Mutation_p.T167M|TNIP1_ENST00000315050.7_Missense_Mutation_p.T167M|TNIP1_ENST00000523338.1_Missense_Mutation_p.T167M|TNIP1_ENST00000523200.1_Missense_Mutation_p.T167M|TNIP1_ENST00000521591.1_Missense_Mutation_p.T167M|TNIP1_ENST00000518977.1_Missense_Mutation_p.T167M	p.T167M	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	WXS	Illumina GAIIx	Phase_I	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1088	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	167			Interacts with Nef.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.500C>T	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053016	0.75960	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840;ENST00000522100	T;T;T;T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77	5.03	5.03	0.67393	.	0.055639	0.64402	D	0.000001	T	0.52709	0.1751	M	0.70595	2.14	0.49582	D	0.999803	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.992;0.999;0.992;0.992;0.991;0.995	T	0.56220	-0.8015	10	0.72032	D	0.01	-22.9219	18.7117	0.91659	0.0:0.0:1.0:0.0	.	167;121;121;167;167;167;167	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	M	114;167;167;167;124;124;129;167;167;167;167;167;124;114	ENSP00000429891:T114M;ENSP00000374029:T167M;ENSP00000317891:T167M;ENSP00000428243:T167M;ENSP00000428187:T167M;ENSP00000430760:T167M;ENSP00000430971:T167M;ENSP00000429912:T167M;ENSP00000431105:T167M;ENSP00000428487:T114M	ENSP00000317891:T167M	T	-	2	0	TNIP1	150416647	1.000000	0.71417	0.998000	0.56505	0.565000	0.35776	6.822000	0.75277	2.489000	0.83994	0.655000	0.94253	ACG		0.672	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		14	60	0	0	0	1	0	14	60					A	150436454	G	A	150436454	3	1	55	1	0	0	0	0	1	0	0	0	16329	1145	40	1	1462	1	TNIP1	5	150436454	Missense_Mutation	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08	9736943	150436454	30478806	18	9620										
F13A1	2162	broad.mit.edu	37	chr6	6266846	6266847	+	Frame_Shift_Ins	INS	-	-	C													0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	tttctgggtttcgactggttINScgaagtacgccatagggagt					rs376147795		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr6:6266846_6266847insC	ENST00000264870.3	-	4	780_781	c.515_516insG	c.(514-516)cgafs	p.R172fs		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	172					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R172Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCGACTGGTTCGAAGTACGCC	0.455																																						ENST00000264870.3																			1	Substitution - Missense(1)	p.R172Q(1)	central_nervous_system(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(514-516)cacfs		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)																																			SO:0001589	frameshift_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6266846_6266847insC	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.516dupG	6.37:g.6266847_6266847dupC	ENSP00000264870:p.Arg172fs		Somatic					p.H172fs	NM_000129.3	NP_000120.2	WXS	Illumina GAIIx	Phase_I	P00488	F13A_HUMAN			4	780_781	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	172					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Frame_Shift_Ins	INS	ENST00000264870.3	37	c.515_516insG	CCDS4496.1																																																																																				0.455	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		20	110						20	110	---	---	---	---	C	6266847	-	C	6266846	7	5	55	1	0	1	1	0	0	0	0	0	5342	1770	62	0	1730	0	F13A1	6	6266846	Frame_Shift_Ins	INS	-	TCGA-NG-A4VW-01A-11D-A28R-08		6266846	164848221	19	9621										
BCLAF1	9774	broad.mit.edu	37	chr6	136599647	136599647	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	cggcgagatctgcttctggaTctttgagaagaaacggatct	12	8	4	3			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr6:136599647T>G	ENST00000531224.1	-	4	624	c.372A>C	c.(370-372)agA>agC	p.R124S	BCLAF1_ENST00000353331.4_Missense_Mutation_p.R122S|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R124S|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R122S|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R124S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R122S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	124					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)		TGCTTCTGGATCTTTGAGAAG	0.448																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(370-372)agA>agC		BCL2-associated transcription factor 1							183	194	191					6																	136599647		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599647T>G	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.372A>C	6.37:g.136599647T>G	ENSP00000435210:p.Arg124Ser		Somatic				BCLAF1_ENST00000530767.1_Missense_Mutation_p.R124S|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R122S|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R124S|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R122S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R122S	p.R124S	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	624	-	Colorectal(23;0.24)		124					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.372A>C	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752431	0.31046	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.64	2.01	0.26516	.	0.000000	0.64402	D	0.000001	T	0.10809	0.0264	L	0.31578	0.945	0.80722	D	1	D;D;D;D	0.57899	0.981;0.981;0.981;0.981	D;D;D;D	0.66351	0.943;0.943;0.943;0.943	T	0.09122	-1.0689	10	0.15066	T	0.55	-11.4256	8.8411	0.35142	0.0:0.2999:0.0:0.7001	.	122;122;124;124	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	S	124;122;124;124;122;122;124	ENSP00000435210:R124S;ENSP00000229446:R122S;ENSP00000435441:R124S;ENSP00000436501:R124S;ENSP00000434826:R122S;ENSP00000376159:R122S;ENSP00000431734:R124S	ENSP00000229446:R122S	R	-	3	2	BCLAF1	136641340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.505000	0.22642	0.425000	0.26087	0.455000	0.32223	AGA		0.448	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		14	210	0	0	0	1	0	14	210					G	136599647	T	G	136599647	3	3	55	1	0	0	0	0	1	0	0	0	1383	1432	50	4	2430	4	BCLAF1	6	136599647	Missense_Mutation	SNP	T	TCGA-NG-A4VW-01A-11D-A28R-08	130332801	136599647	34515420	20	9622										
MAD1L1	8379	broad.mit.edu	37	chr7	2265126	2265126	+	Frame_Shift_Del	DEL	C	C	-													0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	ctcagctccatctgcattttCtcccgctccacctggatgag							TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:2265126delC	ENST00000406869.1	-	4	767	c.210delG	c.(208-210)gagfs	p.E70fs	MAD1L1_ENST00000399654.2_Frame_Shift_Del_p.E70fs|MAD1L1_ENST00000265854.7_Frame_Shift_Del_p.E70fs|MAD1L1_ENST00000402746.1_Intron			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	70					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)		TCTGCATTTTCTCCCGCTCCA	0.577																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(208-210)gafs		MAD1 mitotic arrest deficient-like 1 (yeast)							105	110	109					7																	2265126		2103	4226	6329	SO:0001589	frameshift_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.chr7:2265126delC	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.210delG	7.37:g.2265126delC	ENSP00000385334:p.Glu70fs		Somatic				MAD1L1_ENST00000399654.2_Frame_Shift_Del_p.E70fs|MAD1L1_ENST00000265854.7_Frame_Shift_Del_p.E70fs|MAD1L1_ENST00000402746.1_Intron	p.E70fs			WXS	Illumina GAIIx	Phase_I	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	4	767	-		Ovarian(82;0.0272)	70					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Frame_Shift_Del	DEL	ENST00000406869.1	37	c.210delG	CCDS43539.1																																																																																				0.577	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		13	72						13	72	---	---	---	---	-	2265126	C	-	2265126	7	5	55	1	0	1	0	1	0	0	0	0	9156	912	32	0	2010	0	MAD1L1	7	2265126	Frame_Shift_Del	DEL	C	TCGA-NG-A4VW-01A-11D-A28R-08		2265126	156873537	21	9623										
HECW1	23072	broad.mit.edu	37	chr7	43477687	43477687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	gagccgccccatcatcaagcGcttcttgggaaagctgtcga	11	13	3	0			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:43477687G>A	ENST00000395891.2	+	9	1492	c.887G>A	c.(886-888)cGc>cAc	p.R296H	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.R296H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	296	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						ATCATCAAGCGCTTCTTGGGA	0.493																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(886-888)cGc>cAc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							91	96	94					7																	43477687		2026	4224	6250	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43477687G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.887G>A	7.37:g.43477687G>A	ENSP00000379228:p.Arg296His		Somatic				HECW1_ENST00000453890.1_Missense_Mutation_p.R296H|HECW1_ENST00000471043.1_3'UTR	p.R296H	NM_015052.3	NP_055867.3	WXS	Illumina GAIIx	Phase_I	Q76N89	HECW1_HUMAN			9	1492	+			296			C2.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.887G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	36	5.945452	0.97134	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.69175	-0.38;-0.38	6.17	6.17	0.99709	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.047531	0.85682	D	0.000000	D	0.83271	0.5218	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.83111	-0.0123	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	296;328;296	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	H	296;296;295	ENSP00000379228:R296H;ENSP00000407774:R296H	ENSP00000265522:R295H	R	+	2	0	HECW1	43444212	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CGC		0.493	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		11	73	0	0	0	1	0	11	73					A	43477687	G	A	43477687	3	1	55	1	0	0	0	0	1	0	0	0	7051	1087	38	1	913	1	HECW1	7	43477687	Missense_Mutation	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08	41212561	43477687	115660976	22	9624										
ABCB1	5243	broad.mit.edu	37	chr7	87148697	87148697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	caccaagtaggctccaaaccGgaaacatccagcataggaaa	8	12	0	0	rs200280095		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:87148697G>A	ENST00000265724.3	-	24	3289	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R894W	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	958	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCTCCAAACCGGAAACATCCA	0.378																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(2872-2874)Cgg>Tgg		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						95	87	90					7																	87148697		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87148697G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2872C>T	7.37:g.87148697G>A	ENSP00000265724:p.Arg958Trp		Somatic				ABCB1_ENST00000543898.1_Missense_Mutation_p.R894W|ABCB1_ENST00000488737.2_5'UTR	p.R958W	NM_000927.4	NP_000918.2	WXS	Illumina GAIIx	Phase_I	P08183	MDR1_HUMAN			24	3289	-	Esophageal squamous(14;0.00164)		958			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2872C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892567	0.52121	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.86366	-2.11;-2.11	5.79	5.79	0.91817	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.111652	0.64402	D	0.000013	D	0.88962	0.6580	L	0.28556	0.865	0.47737	D	0.9995	B;D	0.89917	0.071;1.0	B;D	0.71184	0.027;0.972	D	0.88159	0.2856	10	0.41790	T	0.15	-10.1447	14.8298	0.70139	0.0:0.0:0.8561:0.1439	.	894;958	B5AK60;P08183	.;MDR1_HUMAN	W	739;958;894	ENSP00000265724:R958W;ENSP00000444095:R894W	ENSP00000265724:R958W	R	-	1	2	ABCB1	86986633	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.971000	0.49248	2.736000	0.93811	0.561000	0.74099	CGG		0.378	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		14	49	0	0	0	1	0	14	49					A	87148697	G	A	87148697	3	1	55	1	0	0	0	0	1	0	0	0	40	1115	39	1	994	1	ABCB1	7	87148697	Missense_Mutation	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08	43671010	87148697	71989966	23	9625										
GIGYF1	64599	broad.mit.edu	37	chr7	100281657	100281657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	acgcacctggggggtttgagCgcctggagctgctgcaggaa	17	10	0	1	rs372300780		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:100281657C>T	ENST00000275732.5	-	15	3063	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	618					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)					GGGGTTTGAGCGCCTGGAGCT	0.657																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1852-1854)gcG>gcA		GRB10 interacting GYF protein 1		C		0,4396		0,0,2198	15	18	17		1854	2.1	1	7		17	1,8589		0,1,4294	no	coding-synonymous	GIGYF1	NM_022574.4		0,1,6492	TT,TC,CC		0.0116,0.0,0.0077		618/1036	100281657	1,12985	2198	4295	6493	SO:0001819	synonymous_variant	64599							g.chr7:100281657C>T	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1854G>A	7.37:g.100281657C>T			Somatic					p.A618A	NM_022574.4	NP_072096.2	WXS	Illumina GAIIx	Phase_I	O75420	PERQ1_HUMAN			15	3063	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		618					Q6Y7W7|Q8WZ38	Silent	SNP	ENST00000275732.5	37	c.1854G>A	CCDS34708.1																																																																																				0.657	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		5	30	0	0	0	1	0	5	30					T	100281657	C	T	100281657	2	4	55	1	0	0	0	0	0	0	0	1	6385	755	27	1		1	GIGYF1	7	100281657	Silent	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08	13132960	100281657	58857006	24	9626										
CUX1	1523	broad.mit.edu	37	chr7	101747648	101747648	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	aagcacttaaagagaaaatcCgagaatatgaacagacactg	8	7	0	4			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:101747648C>T	ENST00000292535.7	+	6	477	c.439C>T	c.(439-441)Cga>Tga	p.R147*	CUX1_ENST00000550008.2_Nonsense_Mutation_p.R147*|CUX1_ENST00000547394.2_Nonsense_Mutation_p.R142*|CUX1_ENST00000425244.2_Nonsense_Mutation_p.R112*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.R147*|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000393824.3_Nonsense_Mutation_p.R121*|CUX1_ENST00000437600.4_Nonsense_Mutation_p.R158*|CUX1_ENST00000360264.3_Nonsense_Mutation_p.R158*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.R147*|CUX1_ENST00000292538.4_Nonsense_Mutation_p.R158*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.R147*	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	147					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.R147*(1)|p.R158*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGAGAAAATCCGAGAATATGA	0.388																																						ENST00000360264.3																			2	Substitution - Nonsense(2)	p.R147*(1)|p.R158*(1)	endometrium(2)	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.(472-474)Cga>Tga		cut-like homeobox 1							148	144	145					7																	101747648		2203	4300	6503	SO:0001587	stop_gained	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101747648C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.439C>T	7.37:g.101747648C>T	ENSP00000292535:p.Arg147*		Somatic				CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000556210.1_Nonsense_Mutation_p.R147*|CUX1_ENST00000547394.2_Nonsense_Mutation_p.R142*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.R147*|CUX1_ENST00000393824.3_Nonsense_Mutation_p.R121*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.R147*|CUX1_ENST00000437600.4_Nonsense_Mutation_p.R158*|CUX1_ENST00000292535.7_Nonsense_Mutation_p.R147*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.R147*|CUX1_ENST00000292538.4_Nonsense_Mutation_p.R158*|CUX1_ENST00000425244.2_Nonsense_Mutation_p.R112*	p.R158*	NM_001202543.1	NP_001189472.1	WXS	Illumina GAIIx	Phase_I	P39880	CUX1_HUMAN			6	492	+			147					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Nonsense_Mutation	SNP	ENST00000292535.7	37	c.472C>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	44	10.923169	0.99489	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.8376	20.0537	0.97638	0.0:1.0:0.0:0.0	.	.	.	.	X	158;142;158;112;158;147;147;147;147;147	.	ENSP00000292535:R147X	R	+	1	2	CUX1	101534368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.669000	0.54561	2.758000	0.94735	0.561000	0.74099	CGA		0.388	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		33	130	0	0	0	1	0	33	130					T	101747648	C	T	101747648	4	4	55	1	0	0	0	0	0	1	0	0	4066	644	23	1	528	1	CUX1	7	101747648	Nonsense_Mutation	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08	1465991	101747648	57391015	25	9627										
TLE1	7088	broad.mit.edu	37	chr9	84207940	84207943	+	Splice_Site	DEL	CAGA	CAGA	-													0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	accagttcctgttcactcacCagacagtcgagctgggagac							TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr9:84207940_84207943delCAGA	ENST00000376499.3	-	15	2642_2645	c.1578_1581delTCTG	c.(1576-1581)tgtctg>tg	p.CL526fs		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	526					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GTTCACTCACCAGACAGTCGAGCT	0.534																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.e15+1		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)																																				SO:0001630	splice_region_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84207940_84207943delCAGA		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1581+1TCTG>-	9.37:g.84207940_84207943delCAGA			Somatic					p.CL526_splice	NM_005077.3	NP_005068.2	WXS	Illumina GAIIx	Phase_I	Q04724	TLE1_HUMAN			15	2642_2645	-			526					A8K495|Q5T3G4|Q969V9	Splice_Site	DEL	ENST00000376499.3	37	c.1581_splice	CCDS6661.1																																																																																				0.534	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077	Frame_Shift_Del	10	74						10	74	---	---	---	---	-	84207943	CAGA	-	84207940	8	5	55	1	0	1	0	1	0	0	1	0	15953	608	21	0	755	0	TLE1	9	84207940	Splice_Site	DEL	CAGA	TCGA-NG-A4VW-01A-11D-A28R-08		84207940	57005491	26	9628										
PRPF4	9128	broad.mit.edu	37	chr9	116049072	116049072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	tgtcaacctggcctcttgtgCggctgatggctctgtgaagc	13	11	3	2	rs575911571		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr9:116049072C>T	ENST00000374198.4	+	9	1001	c.899C>T	c.(898-900)gCg>gTg	p.A300V	PRPF4_ENST00000374199.4_Missense_Mutation_p.A299V	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	300					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GCCTCTTGTGCGGCTGATGGC	0.468													C|||	1	0.000199681	0	0	5008	,	,		18454	0		0.001	False		,,,				2504	0					ENST00000374199.4																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						c.(895-897)gCg>gTg		pre-mRNA processing factor 4							353	352	353					9																	116049072		2203	4300	6503	SO:0001583	missense	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116049072C>T	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"WD repeat domain containing"	17349	protein-coding gene	gene with protein product	"PRP4/STK/WD splicing factor", "U4/U6 small nuclear ribonucleoprotein Prp4"	607795	"PRP4 pre-mRNA processing factor 4 homolog (yeast)"			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.899C>T	9.37:g.116049072C>T	ENSP00000363313:p.Ala300Val		Somatic				PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V	p.A299V			WXS	Illumina GAIIx	Phase_I	O43172	PRP4_HUMAN			9	1297	+			300					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.896C>T	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163644	0.94727	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.61040	0.14;0.14	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.155793	0.56097	D	0.000025	T	0.72244	0.3436	L	0.56340	1.77	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.65140	0.932;0.849	T	0.73040	-0.4108	10	0.72032	D	0.01	.	19.0872	0.93209	0.0:1.0:0.0:0.0	.	315;300	Q59EL4;O43172	.;PRP4_HUMAN	V	299;300	ENSP00000363315:A299V;ENSP00000363313:A300V	ENSP00000363313:A300V	A	+	2	0	PRPF4	115088893	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.378000	0.79679	2.752000	0.94435	0.655000	0.94253	GCG		0.468	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		5	458	0	0	0	1	0	5	458					T	116049072	C	T	116049072	3	4	55	1	0	0	0	0	1	0	0	0	12582	768	27	1	933	1	PRPF4	9	116049072	Missense_Mutation	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08	31841132	116049072	25164359	27	9629										
NR6A1	2649	broad.mit.edu	37	chr9	127300415	127300415	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	cccaatggttccaggtcctcGgctgataacagctggtgaat	11	11	0	2			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr9:127300415G>A	ENST00000487099.2	-	6	937	c.780C>T	c.(778-780)gcC>gcT	p.A260A	NR6A1_ENST00000373584.3_Silent_p.A256A|NR6A1_ENST00000344523.4_Silent_p.A259A|NR6A1_ENST00000416460.2_Silent_p.A255A	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	260					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						CCAGGTCCTCGGCTGATAACA	0.557																																					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.(778-780)gcC>gcT		nuclear receptor subfamily 6, group A, member 1							116	105	109					9																	127300415		2203	4300	6503	SO:0001819	synonymous_variant	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.chr9:127300415G>A	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.780C>T	9.37:g.127300415G>A			Somatic				NR6A1_ENST00000416460.2_Silent_p.A255A|NR6A1_ENST00000344523.4_Silent_p.A259A|NR6A1_ENST00000373584.3_Silent_p.A256A	p.A260A	NM_001278546.1	NP_001265475.1	WXS	Illumina GAIIx	Phase_I	Q15406	NR6A1_HUMAN			6	937	-			260					O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Silent	SNP	ENST00000487099.2	37	c.780C>T	CCDS35137.1																																																																																				0.557	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			10	58	0	0	0	1	0	10	58					A	127300415	G	A	127300415	2	1	55	1	0	0	0	0	0	0	0	1	10646	1103	39	1		1	NR6A1	9	127300415	Silent	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08	11251343	127300415	13913016	28	9630										
COL5A1	1289	broad.mit.edu	37	chr9	137653812	137653812	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	ccaccaggacctccgggagaCgatggagaaagggtaggtat	15	9	0	2	rs370766020		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr9:137653812C>T	ENST00000371817.3	+	19	2391	c.1977C>T	c.(1975-1977)gaC>gaT	p.D659D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	659	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCCGGGAGACGATGGAGAAA	0.597																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1975-1977)gaC>gaT		collagen, type V, alpha 1				1,4403	2.1+/-5.4	0,1,2201	109	100	103		1977	-9.1	0	9		103	0,8600		0,0,4300	no	coding-synonymous	COL5A1	NM_000093.3		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		659/1839	137653812	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137653812C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1977C>T	9.37:g.137653812C>T			Somatic					p.D659D	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	WXS	Illumina GAIIx	Phase_I	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	19	2391	+		Myeloproliferative disorder(178;0.0341)	659			Triple-helical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.1977C>T	CCDS6982.1																																																																																				0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		15	62	0	0	0	1	0	15	62					T	137653812	C	T	137653812	2	4	55	1	0	0	0	0	0	0	0	1	3698	535	19	1		1	COL5A1	9	137653812	Silent	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08	10353397	137653812	3559619	29	9631										
GRID1	2894	broad.mit.edu	37	chr10	87628820	87628820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	gcagagcagggaggagatgcGgtggttgttcctcgtgcatt	17	7	0	2			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr10:87628820G>A	ENST00000327946.7	-	6	983	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	300					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			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						GAGGAGATGCGGTGGTTGTTC	0.567										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.(898-900)Cgc>Tgc		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						205	153	171					10																	87628820		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.chr10:87628820G>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.898C>T	10.37:g.87628820G>A	ENSP00000330148:p.Arg300Cys	Multiple Myeloma(13;0.14)	Somatic					p.R300C	NM_017551.2	NP_060021.1	WXS	Illumina GAIIx	Phase_I	Q9ULK0	GRID1_HUMAN			6	983	-			300					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.898C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449921	0.84101	.	.	ENSG00000182771	ENST00000327946	D	0.86230	-2.09	5.58	5.58	0.84498	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91938	0.7447	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92327	0.5870	10	0.87932	D	0	.	13.5144	0.61533	0.0:0.0:0.8441:0.1559	.	300	Q9ULK0	GRID1_HUMAN	C	300	ENSP00000330148:R300C	ENSP00000330148:R300C	R	-	1	0	GRID1	87618800	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.527000	0.67123	2.617000	0.88574	0.563000	0.77884	CGC		0.567	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		14	93	0	0	0	1	0	14	93					A	87628820	G	A	87628820	3	1	55	1	0	0	0	0	1	0	0	0	6780	1116	39	1	2175	1	GRID1	10	87628820	Missense_Mutation	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08		87628820	47905927	30	9632										
PTEN	5728	broad.mit.edu	37	chr10	89653815	89653815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	cattattgctatgggatttcCtgcagaaagacttgaaggcg	11	7	0	3			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr10:89653815C>T	ENST00000371953.3	+	2	1470	c.113C>T	c.(112-114)cCt>cTt	p.P38L		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	38	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.P38R(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)		ATGGGATTTCCTGCAGAAAGA	0.289		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	"D, Mis, N, F, S"	phosphatase and tensin homolog gene			"L, E, M, O"		"harmartoma, glioma,  prostate, endometrial"	"glioma,  prostate, endometrial"		48	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(2)|Substitution - Missense(1)	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.P38R(1)	prostate(14)|central_nervous_system(8)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|NS(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(112-114)cCt>cTt		phosphatase and tensin homolog							112	112	112					10																	89653815		2203	4296	6499	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.chr10:89653815C>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.113C>T	10.37:g.89653815C>T	ENSP00000361021:p.Pro38Leu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic					p.P38L	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)	2	1470	+		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)	38			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.113C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172487	0.94807	.	.	ENSG00000171862	ENST00000371953	D	0.99319	-5.74	5.19	5.19	0.71726	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99612	0.9859	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97781	1.0232	9	.	.	.	-4.7744	17.4682	0.87639	0.0:1.0:0.0:0.0	.	38	P60484	PTEN_HUMAN	L	38	ENSP00000361021:P38L	.	P	+	2	0	PTEN	89643795	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.457000	0.66672	2.421000	0.82119	0.655000	0.94253	CCT		0.289	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		7	55	0	0	0	1	0	7	55					T	89653815	C	T	89653815	3	4	55	1	0	0	0	0	1	0	0	0	12750	681	24	3	119	3	PTEN	10	89653815	Missense_Mutation	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08	2024995	89653815	45880932	31	9633										
PTEN	5728	broad.mit.edu	37	chr10	89692792	89692792	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	gcacaatatccttttgaagaCcataacccaccacagctaga	5	13	0	3			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr10:89692792C>A	ENST00000371953.3	+	5	1633	c.276C>A	c.(274-276)gaC>gaA	p.D92E		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	92	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.D92E(2)|p.Q87_P96del(1)|p.N82_P95del(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)		CTTTTGAAGACCATAACCCAC	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(8)|Unknown(5)|Substitution - Missense(2)|Deletion - In frame(2)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.D92E(2)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(12)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM033666	PTEN	M		c.(274-276)gaC>gaA		phosphatase and tensin homolog							112	102	105					10																	89692792		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.chr10:89692792C>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.276C>A	10.37:g.89692792C>A	ENSP00000361021:p.Asp92Glu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic					p.D92E	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	1633	+		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)	92			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.276C>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047615	0.75846	.	.	ENSG00000171862	ENST00000371953	D	0.99422	-5.88	5.07	1.09	0.20402	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99764	1.1022	9	.	.	.	-9.7034	9.9879	0.41852	0.0:0.7188:0.0:0.2812	.	92	P60484	PTEN_HUMAN	E	92	ENSP00000361021:D92E	.	D	+	3	2	PTEN	89682772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.304000	0.43655	0.169000	0.19679	0.655000	0.94253	GAC		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		29	68	1	0	1.5548e-18	1	1.66586e-18	29	68					A	89692792	C	A	89692792	3	1	55	1	0	0	0	0	1	0	0	0	12750	506	18	5	294	5	PTEN	10	89692792	Missense_Mutation	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08	38977	89692792	45841955	32	9634										
COL17A1	1308	broad.mit.edu	37	chr10	105793951	105793951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	aagagctgtaggagctgcccCgcctgacagatgagctgtgt	14	10	0	4	rs121912771		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr10:105793951C>T	ENST00000353479.5	-	52	4198	c.3908G>A	c.(3907-3909)cGg>cAg	p.R1303Q	COL17A1_ENST00000369733.3_Missense_Mutation_p.R1221Q	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1303	Triple-helical region.		R -> Q (in GABEB; dbSNP:rs121912771). {ECO:0000269|PubMed:9199555}.		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)		GGAGCTGCCCCGCCTGACAGA	0.672													C|||	1	0.000199681	0	0	5008	,	,		13800	0		0.001	False		,,,				2504	0					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	GRCh37	CM970345	COL17A1	M	rs121912771	c.(3907-3909)cGg>cAg		collagen, type XVII, alpha 1		C	GLN/ARG	0,4406		0,0,2203	31	28	29	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3908	4	0	10	dbSNP_133	29	1,8599		0,1,4299	no	missense	COL17A1	NM_000494.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1303/1498	105793951	1,13005	2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105793951C>T	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.3908G>A	10.37:g.105793951C>T	ENSP00000340937:p.Arg1303Gln		Somatic				COL17A1_ENST00000369733.3_Missense_Mutation_p.R1221Q	p.R1303Q	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)	52	4198	-		Colorectal(252;0.103)|Breast(234;0.122)	1303		R -> Q (in GABEB).	Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.3908G>A	CCDS7554.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.312	0.425620	0.11987	0.0	1.16E-4	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.91237	-2.81;-2.79	4.87	3.96	0.45880	.	0.000000	0.34932	N	0.003576	T	0.80954	0.4723	L	0.27053	0.805	0.22066	N	0.999382	P	0.40376	0.715	B	0.32289	0.143	T	0.68640	-0.5355	10	0.13108	T	0.6	-1.2815	13.7012	0.62611	0.0:0.7088:0.2912:0.0	.	1303	Q9UMD9	COHA1_HUMAN	Q	1303;1221	ENSP00000340937:R1303Q;ENSP00000358748:R1221Q	ENSP00000340937:R1303Q	R	-	2	0	COL17A1	105783941	0.001000	0.12720	0.019000	0.16419	0.319000	0.28217	0.636000	0.24644	1.033000	0.39918	0.561000	0.74099	CGG		0.672	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		9	39	0	0	0	1	0	9	39					T	105793951	C	T	105793951	3	4	55	1	0	0	0	0	1	0	0	0	3676	652	23	1	605	1	COL17A1	10	105793951	Missense_Mutation	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08	16101159	105793951	29740796	33	9635										
SSRP1	6749	broad.mit.edu	37	chr11	57099304	57099304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	agatgaagccccgctccagcGggtagagcagtcctgagctt	13	12	0	4			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr11:57099304G>A	ENST00000278412.2	-	9	1327	c.1061C>T	c.(1060-1062)cCg>cTg	p.P354L	snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	354					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						CCGCTCCAGCGGGTAGAGCAG	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.(1060-1062)cCg>cTg		structure specific recognition protein 1							81	75	77					11																	57099304		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.chr11:57099304G>A	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 80 kDa subunit"	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1061C>T	11.37:g.57099304G>A	ENSP00000278412:p.Pro354Leu		Somatic					p.P354L	NM_003146.2	NP_003137.1	WXS	Illumina GAIIx	Phase_I	Q08945	SSRP1_HUMAN			9	1327	-			354					Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.1061C>T	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025751	0.93518	.	.	ENSG00000149136	ENST00000278412	T	0.44881	0.91	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.69700	0.3140	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68221	-0.5466	10	0.39692	T	0.17	-18.9074	19.5069	0.95121	0.0:0.0:1.0:0.0	.	354	Q08945	SSRP1_HUMAN	L	354	ENSP00000278412:P354L	ENSP00000278412:P354L	P	-	2	0	SSRP1	56855880	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	9.157000	0.94714	2.941000	0.99782	0.655000	0.94253	CCG		0.567	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		7	38	0	0	0	1	0	7	38					A	57099304	G	A	57099304	3	1	55	1	0	0	0	0	1	0	0	0	15209	1116	39	1	1104	1	SSRP1	11	57099304	Missense_Mutation	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08		57099304	77907212	34	9636										
DHCR7	1717	broad.mit.edu	37	chr11	71155948	71155948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	gcggttctgtcattggtgacGccatctagactcttggcttt	11	10	4	2			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr11:71155948G>A	ENST00000355527.3	-	3	327	c.51C>T	c.(49-51)ggC>ggT	p.G17G	DHCR7_ENST00000407721.2_Silent_p.G17G	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	17					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)	p.G17G(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						CATTGGTGACGCCATCTAGAC	0.502									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			2	Substitution - coding silent(2)	p.G17G(2)	endometrium(2)	endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(49-51)ggC>ggT		7-dehydrocholesterol reductase	NADH(DB00157)						309	243	266					11																	71155948		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.chr11:71155948G>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.51C>T	11.37:g.71155948G>A			Somatic				DHCR7_ENST00000407721.2_Silent_p.G17G	p.G17G	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	WXS	Illumina GAIIx	Phase_I	Q9UBM7	DHCR7_HUMAN			3	327	-			17					B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	c.51C>T	CCDS8200.1																																																																																				0.502	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		23	126	0	0	0	1	0	23	126					A	71155948	G	A	71155948	2	1	55	1	0	0	0	0	0	0	0	1	4479	1074	38	1		1	DHCR7	11	71155948	Silent	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08	14056644	71155948	63850568	35	9637										
SPCS2	9789	broad.mit.edu	37	chr11	74687936	74687936	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	acaccttgaagctgaccttcAtcagtgggagaacaaagcag	10	10	2	3	rs573769844		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr11:74687936A>G	ENST00000263672.6	+	5	568	c.529A>G	c.(529-531)Atc>Gtc	p.I177V	SPCS2_ENST00000526361.1_Missense_Mutation_p.I38V|SPCS2_ENST00000528265.1_Intron|SPCS2_ENST00000530257.1_Missense_Mutation_p.I108V	NM_014752.2	NP_055567.2	Q15005	SPCS2_HUMAN	signal peptidase complex subunit 2 homolog (S. cerevisiae)	177					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			breast(1)	1						GCTGACCTTCATCAGTGGGAG	0.443													A|||	1	0.000199681	0	0	5008	,	,		18514	0		0.001	False		,,,				2504	0					ENST00000263672.6																			0				breast(1)	1						c.(529-531)Atc>Gtc		signal peptidase complex subunit 2 homolog (S. cerevisiae)							64	63	63					11																	74687936		1871	4082	5953	SO:0001583	missense	9789				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity	g.chr11:74687936A>G	D14658	CCDS44681.1	11q13.4	2008-02-05			ENSG00000118363	ENSG00000118363			28962	protein-coding gene	gene with protein product						7788527	Standard	NM_014752		Approved	KIAA0102	uc001ovu.2	Q15005	OTTHUMG00000165517	ENST00000263672.6:c.529A>G	11.37:g.74687936A>G	ENSP00000263672:p.Ile177Val		Somatic				SPCS2_ENST00000528265.1_Intron|SPCS2_ENST00000526361.1_Missense_Mutation_p.I38V|SPCS2_ENST00000530257.1_Missense_Mutation_p.I108V	p.I177V	NM_014752.2	NP_055567.2	WXS	Illumina GAIIx	Phase_I	Q15005	SPCS2_HUMAN			5	568	+			177					Q15507|Q3KQT0|Q641R4|Q6FG65|Q6IRX0|Q6P1P4|Q96HU9	Missense_Mutation	SNP	ENST00000263672.6	37	c.529A>G	CCDS44681.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559206	0.45590	.	.	ENSG00000118363	ENST00000263672;ENST00000530257;ENST00000526361;ENST00000532972	.	.	.	5.36	5.36	0.76844	.	0.094859	0.64402	D	0.000001	T	0.55114	0.1900	L	0.55481	1.735	0.42961	D	0.994408	B	0.29766	0.256	B	0.27796	0.083	T	0.52859	-0.8519	9	0.19147	T	0.46	-11.8415	13.5927	0.61969	1.0:0.0:0.0:0.0	.	177	Q15005	SPCS2_HUMAN	V	177;108;38;208	.	ENSP00000263672:I177V	I	+	1	0	SPCS2	74365584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.231000	0.65327	2.157000	0.67596	0.533000	0.62120	ATC		0.443	SPCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384587.1	NM_014752		15	82	0	0	0	1	0	15	82					G	74687936	A	G	74687936	3	3	55	1	0	0	0	0	1	0	0	0	15039	217	8	4	547	4	SPCS2	11	74687936	Missense_Mutation	SNP	A	TCGA-NG-A4VW-01A-11D-A28R-08	3531988	74687936	60318580	36	9638										
AQP5	362	broad.mit.edu	37	chr12	50358866	50358866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	ctccctgagcctgagtgagcGtgtggccatcatcaaaggca	12	12	2	3	rs148637740	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr12:50358866G>A	ENST00000293599.6	+	4	852	c.704G>A	c.(703-705)cGt>cAt	p.R235H	AQP6_ENST00000551733.1_5'Flank|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	235					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						CTGAGTGAGCGTGTGGCCATC	0.607													G|||	2	0.000399361	0	0.0014	5008	,	,		15652	0		0	False		,,,				2504	0.001					ENST00000293599.6																			0				large_intestine(1)|lung(3)	4						c.(703-705)cGt>cAt		aquaporin 5		G	HIS/ARG	0,4406		0,0,2203	104	92	96		704	5.1	0.3	12	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense	AQP5	NM_001651.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	235/266	50358866	1,13005	2203	4300	6503	SO:0001583	missense	362				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity	g.chr12:50358866G>A	U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"Ion channels / Aquaporins"	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.704G>A	12.37:g.50358866G>A	ENSP00000293599:p.Arg235His		Somatic					p.R235H	NM_001651.2	NP_001642.1	WXS	Illumina GAIIx	Phase_I	P55064	AQP5_HUMAN			4	852	+			235					Q6FGW8	Missense_Mutation	SNP	ENST00000293599.6	37	c.704G>A	CCDS8793.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072606	0.76415	0.0	1.16E-4	ENSG00000161798	ENST00000293599	D	0.88431	-2.38	5.1	5.1	0.69264	Aquaporin-like (1);	0.308756	0.25872	N	0.027757	D	0.93038	0.7784	M	0.82716	2.605	0.40385	D	0.979484	D	0.69078	0.997	P	0.54312	0.748	D	0.94404	0.7625	10	0.87932	D	0	-1.1959	16.3974	0.83613	0.0:0.0:1.0:0.0	.	235	P55064	AQP5_HUMAN	H	235	ENSP00000293599:R235H	ENSP00000293599:R235H	R	+	2	0	AQP5	48645133	0.993000	0.37304	0.334000	0.25495	0.564000	0.35744	6.251000	0.72441	2.554000	0.86153	0.462000	0.41574	CGT		0.607	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405542.2	NM_001651		15	76	0	0	0	1	0	15	76					A	50358866	G	A	50358866	3	1	55	1	0	0	0	0	1	0	0	0	829	1145	40	1	718	1	AQP5	12	50358866	Missense_Mutation	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08		50358866	83493029	37	9639										
KRT6A	3853	broad.mit.edu	37	chr12	52882314	52882314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	ctgctcagcatcagcaatggCggcctgcaggttggcgcact	13	13	2	0	rs562064061		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr12:52882314C>T	ENST00000330722.6	-	7	1290	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	408	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCAATGGCGGCCTGCAGG	0.552																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(1222-1224)Gcc>Acc		keratin 6A							73	68	70					12																	52882314		2203	4300	6503	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52882314C>T	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1222G>A	12.37:g.52882314C>T	ENSP00000369317:p.Ala408Thr		Somatic					p.A408T	NM_005554.3	NP_005545.1	WXS	Illumina GAIIx	Phase_I	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1290	-			408			Coil 2.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.1222G>A	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	c	18.49	3.635856	0.67130	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	T	0.77229	-1.08	5.15	3.23	0.37069	Filament (1);	0.326832	0.26069	N	0.026529	D	0.84570	0.5501	M	0.69358	2.11	0.36256	D	0.854235	D	0.71674	0.998	D	0.64321	0.924	D	0.87903	0.2692	10	0.72032	D	0.01	.	13.0089	0.58720	0.4242:0.5758:0.0:0.0	.	408	P02538	K2C6A_HUMAN	T	408;364	ENSP00000369317:A408T	ENSP00000369317:A408T	A	-	1	0	KRT6A	51168581	0.589000	0.26807	0.838000	0.33150	0.743000	0.42351	1.012000	0.29924	0.596000	0.29794	0.655000	0.94253	GCC		0.552	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		13	89	0	0	0	1	0	13	89					T	52882314	C	T	52882314	3	4	55	1	0	0	0	0	1	0	0	0	8489	768	27	1	484	1	KRT6A	12	52882314	Missense_Mutation	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08	2523448	52882314	80969581	38	9640										
NACA	4666	broad.mit.edu	37	chr12	57109734	57109734	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	gatttaggggtgggcatgttGacgaggaccgactggaaagg	18	5	0	1			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr12:57109734G>A	ENST00000454682.1	-	3	5861	c.5580C>T	c.(5578-5580)gtC>gtT	p.V1860V	NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Silent_p.V707V|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1860	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						TGGGCATGTTGACGAGGACCG	0.562			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.(5578-5580)gtC>gtT		nascent polypeptide-associated complex alpha subunit							133	121	125					12																	57109734		1568	3582	5150	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57109734G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5580C>T	12.37:g.57109734G>A			Somatic				NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Silent_p.V707V|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron	p.V1860V	NM_001113203.2	NP_001106674.2	WXS	Illumina GAIIx	Phase_I	Q13765	NACA_HUMAN			3	5861	-			0						Silent	SNP	ENST00000454682.1	37	c.5580C>T																																																																																					0.562	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		16	124	0	0	0	1	0	16	124					A	57109734	G	A	57109734	2	1	55	1	0	0	0	0	0	0	0	1	10142	1277	45	3		3	NACA	12	57109734	Silent	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08	4227420	57109734	76742161	39	9641										
LGR5	8549	broad.mit.edu	37	chr12	71918242	71918242	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	gggagcattcactggcctttAcagtcttaaagttctgtaag	10	8	3	0			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr12:71918242A>G	ENST00000266674.5	+	3	652	c.341A>G	c.(340-342)tAc>tGc	p.Y114C	LGR5_ENST00000536515.1_Missense_Mutation_p.Y114C|LGR5_ENST00000540815.2_Missense_Mutation_p.Y114C			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	114					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						ACTGGCCTTTACAGTCTTAAA	0.418																																						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.(340-342)tAc>tGc		leucine-rich repeat containing G protein-coupled receptor 5							184	175	178					12																	71918242		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71918242A>G	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.341A>G	12.37:g.71918242A>G	ENSP00000266674:p.Tyr114Cys		Somatic				LGR5_ENST00000536515.1_Missense_Mutation_p.Y114C|LGR5_ENST00000540815.2_Missense_Mutation_p.Y114C	p.Y114C			WXS	Illumina GAIIx	Phase_I	O75473	LGR5_HUMAN			3	652	+			114					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.341A>G	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.871013	0.51695	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.57436	0.4;0.4;0.4	5.41	2.97	0.34412	.	0.544265	0.17962	N	0.156148	T	0.30039	0.0752	N	0.20574	0.59	0.30415	N	0.778644	B;B	0.11235	0.003;0.004	B;B	0.15484	0.012;0.013	T	0.09952	-1.0651	10	0.39692	T	0.17	.	1.5263	0.02526	0.5291:0.131:0.0908:0.2491	.	114;114	O75473-2;O75473	.;LGR5_HUMAN	C	114	ENSP00000266674:Y114C;ENSP00000443033:Y114C;ENSP00000441035:Y114C	ENSP00000266674:Y114C	Y	+	2	0	LGR5	70204509	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.190000	0.42630	2.179000	0.69175	0.533000	0.62120	TAC		0.418	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		7	43	0	0	0	1	0	7	43					G	71918242	A	G	71918242	3	3	55	1	0	0	0	0	1	0	0	0	8766	391	14	4	351	4	LGR5	12	71918242	Missense_Mutation	SNP	A	TCGA-NG-A4VW-01A-11D-A28R-08	14808508	71918242	61933653	40	9642										
CLLU1OS	574016	broad.mit.edu	37	chr12	92821902	92821902	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	ttaaggcattccttaagttcGttgtgccccaatttgttcat	7	9	1	0			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr12:92821902G>A	ENST00000378487.2	-	1	22	c.21C>T	c.(19-21)aaC>aaT	p.N7N	CLLU1_ENST00000472839.2_Intron|CLLU1OS_ENST00000538965.1_Silent_p.N7N|RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000378485.1_Intron	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	7								p.N7K(1)		large_intestine(1)|lung(7)	8						ccttaagttcgttgtgcccca	0.423																																						ENST00000378487.2																			1	Substitution - Missense(1)	p.N7K(1)	lung(1)	large_intestine(1)|lung(7)	8						c.(19-21)aaC>aaT		chronic lymphocytic leukemia up-regulated 1 opposite strand							240	200	214					12																	92821902		2203	4300	6503	SO:0001819	synonymous_variant	574016							g.chr12:92821902G>A	AJ845168	CCDS31871.1	12q22	2006-03-30	2006-03-30		ENSG00000205057	ENSG00000205057			24070	protein-coding gene	gene with protein product			"chronic lymphocytic leukemia up-regulated 1 overlapping strand"				Standard	NM_001025232		Approved		uc001tcb.1	Q5K130	OTTHUMG00000161990	ENST00000378487.2:c.21C>T	12.37:g.92821902G>A			Somatic				RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000378485.1_Intron|CLLU1OS_ENST00000538965.1_Silent_p.N7N|CLLU1_ENST00000472839.2_Intron	p.N7N	NM_001025232.1	NP_001020403.1	WXS	Illumina GAIIx	Phase_I	Q5K130	CLU1O_HUMAN			1	22	-			7						Silent	SNP	ENST00000378487.2	37	c.21C>T	CCDS31871.1																																																																																				0.423	CLLU1OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366646.1			6	36	0	0	0	1	0	6	36					A	92821902	G	A	92821902	2	1	55	1	0	0	0	0	0	0	0	1	3543	1136	40	1		1	CLLU1OS	12	92821902	Silent	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08	20903660	92821902	41029993	41	9643										
RB1	5925	broad.mit.edu	37	chr13	48916759	48916759	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	gttatattcaaaagaaaaagGaactgtggggaatctgtatc	10	4	2	1			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr13:48916759G>T	ENST00000267163.4	+	3	427	c.289G>T	c.(289-291)Gaa>Taa	p.E97*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	97					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.?(5)|p.E97fs*14(2)		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)"	AAAGAAAAAGGAACTGTGGGG	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"		22	Whole gene deletion(15)|Unknown(5)|Deletion - Frameshift(2)	p.0?(15)|p.?(5)|p.E97fs*14(2)	bone(10)|breast(6)|prostate(2)|eye(1)|soft_tissue(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.(289-291)Gaa>Taa		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						84	95	91					13																	48916759		2203	4300	6503	SO:0001587	stop_gained	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.chr13:48916759G>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.289G>T	13.37:g.48916759G>T	ENSP00000267163:p.Glu97*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)	Somatic					p.E97*	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)	3	427	+		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)	97					A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.289G>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258975	0.95368	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.39	3.62	0.41486	.	0.366565	0.31747	N	0.007126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	7.6242	0.28202	0.089:0.1658:0.7452:0.0	.	.	.	.	X	76;97	.	ENSP00000267163:E97X	E	+	1	0	RB1	47814760	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	1.761000	0.38440	0.718000	0.32166	0.603000	0.83216	GAA		0.313	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			9	46	1	0	3.09899e-07	1	3.22811e-07	9	46					T	48916759	G	T	48916759	4	4	55	1	0	0	0	0	0	1	0	0	13113	1175	41	2	299	2	RB1	13	48916759	Nonsense_Mutation	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08		48916759	66253119	42	9644										
CCDC33	80125	broad.mit.edu	37	chr15	74623364	74623364	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	tgctccttctgtatcaggccCagcagccacaggccgctctg	10	16	3	0			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr15:74623364C>T	ENST00000398814.3	+	14	2019	c.1588C>T	c.(1588-1590)Cag>Tag	p.Q530*	CCDC33_ENST00000268082.4_Nonsense_Mutation_p.Q123*|CCDC33_ENST00000321288.5_Nonsense_Mutation_p.Q733*|CCDC33_ENST00000558821.1_Nonsense_Mutation_p.Q123*	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	733										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTATCAGGCCCAGCAGCCACA	0.597																																						ENST00000321288.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(2197-2199)Cag>Tag		coiled-coil domain containing 33							19	24	22					15																	74623364		2009	4178	6187	SO:0001587	stop_gained	80125						protein binding	g.chr15:74623364C>T	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1588C>T	15.37:g.74623364C>T	ENSP00000381795:p.Gln530*		Somatic				CCDC33_ENST00000558821.1_Nonsense_Mutation_p.Q123*|CCDC33_ENST00000398814.3_Nonsense_Mutation_p.Q530*|CCDC33_ENST00000268082.4_Nonsense_Mutation_p.Q123*	p.Q733*			WXS	Illumina GAIIx	Phase_I	Q8N5R6	CCD33_HUMAN			16	2197	+			733					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Nonsense_Mutation	SNP	ENST00000398814.3	37	c.2197C>T	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227951	0.58777	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	.	.	.	4.95	4.95	0.65309	.	0.222869	0.37623	N	0.002012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	16.9805	0.86326	0.0:1.0:0.0:0.0	.	.	.	.	X	733;530;123;123	.	ENSP00000268082:Q123X	Q	+	1	0	CCDC33	72410417	0.996000	0.38824	0.989000	0.46669	0.207000	0.24258	3.862000	0.56009	2.292000	0.77174	0.551000	0.68910	CAG		0.597	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		7	26	0	0	0	1	0	7	26					T	74623364	C	T	74623364	4	4	55	1	0	0	0	0	0	1	0	0	2808	595	21	3	1715	3	CCDC33	15	74623364	Nonsense_Mutation	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08		74623364	27908028	43	9645										
SIN3A	25942	broad.mit.edu	37	chr15	75684736	75684736	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	cagcctcaggcagagaatctGgtgcagtcgcataaaaatat	10	9	2	1			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr15:75684736G>A	ENST00000394947.3	-	15	3012	c.2698C>T	c.(2698-2700)Cag>Tag	p.Q900*	SIN3A_ENST00000360439.4_Nonsense_Mutation_p.Q900*|SIN3A_ENST00000394949.4_Nonsense_Mutation_p.Q900*	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CAGAGAATCTGGTGCAGTCGC	0.438																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(2698-2700)Cag>Tag		SIN3 transcription regulator family member A							135	132	133					15																	75684736		2197	4294	6491	SO:0001587	stop_gained	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75684736G>A	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2698C>T	15.37:g.75684736G>A	ENSP00000378402:p.Gln900*		Somatic				SIN3A_ENST00000360439.4_Nonsense_Mutation_p.Q900*|SIN3A_ENST00000394949.4_Nonsense_Mutation_p.Q900*	p.Q900*	NM_001145358.1	NP_001138830.1	WXS	Illumina GAIIx	Phase_I	Q96ST3	SIN3A_HUMAN			15	3012	-			900						Nonsense_Mutation	SNP	ENST00000394947.3	37	c.2698C>T	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	42	9.527145	0.99196	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	.	.	.	5.6	5.6	0.85130	.	0.103363	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-19.5337	18.6178	0.91310	0.0:0.0:1.0:0.0	.	.	.	.	X	900	.	ENSP00000353622:Q900X	Q	-	1	0	SIN3A	73471789	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.829000	0.99411	2.644000	0.89710	0.655000	0.94253	CAG		0.438	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		23	74	0	0	0	1	0	23	74					A	75684736	G	A	75684736	4	1	55	1	0	0	0	0	0	1	0	0	14340	1357	47	3	1151	3	SIN3A	15	75684736	Nonsense_Mutation	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08	1061372	75684736	26846656	44	9646										
SOX8	30812	broad.mit.edu	37	chr16	1033825	1033825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	ccgactacaagtaccagccaCggcgcaggaagagcgccaaa	11	14	0	1			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr16:1033825C>T	ENST00000293894.3	+	2	635	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	RP11-161M6.2_ENST00000565467.1_lincRNA	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	174					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GTACCAGCCACGGCGCAGGAA	0.677																																						ENST00000293894.3																			0				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10						c.(520-522)Cgg>Tgg		SRY (sex determining region Y)-box 8							44	42	43					16																	1033825		2198	4298	6496	SO:0001583	missense	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1033825C>T	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"SRY (sex determining region Y)-boxes"	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.520C>T	16.37:g.1033825C>T	ENSP00000293894:p.Arg174Trp		Somatic					p.R174W	NM_014587.3	NP_055402.2	WXS	Illumina GAIIx	Phase_I	P57073	SOX8_HUMAN			2	635	+		Hepatocellular(780;0.00308)	174					Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	c.520C>T	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264534	0.95399	.	.	ENSG00000005513	ENST00000293894	D	0.94723	-3.5	4.77	2.64	0.31445	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (1);	0.060393	0.64402	D	0.000003	D	0.97514	0.9186	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97340	0.9956	10	0.87932	D	0	.	12.2135	0.54394	0.3208:0.6792:0.0:0.0	.	174	P57073	SOX8_HUMAN	W	174	ENSP00000293894:R174W	ENSP00000293894:R174W	R	+	1	2	SOX8	973826	0.997000	0.39634	0.007000	0.13788	0.726000	0.41606	3.705000	0.54823	0.435000	0.26365	0.655000	0.94253	CGG		0.677	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			10	55	0	0	0	1	0	10	55					T	1033825	C	T	1033825	3	4	55	1	0	0	0	0	1	0	0	0	14972	527	19	1	526	1	SOX8	16	1033825	Missense_Mutation	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08		1033825	89320928	45	9647										
RPS2	6187	broad.mit.edu	37	chr16	2013186	2013186	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	tggccggcacgggtctgcttCtgcactggcataatcttcaa	11	12	4	0			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr16:2013186C>A	ENST00000343262.4	-	4	395	c.339G>T	c.(337-339)caG>caT	p.Q113H	RPS2_ENST00000530225.1_Missense_Mutation_p.Q113H|SNORA64_ENST00000384674.1_RNA|RPS2_ENST00000526522.1_Missense_Mutation_p.Q113H|SNHG9_ENST00000459373.1_lincRNA|SNORA10_ENST00000384084.1_RNA|RPS2_ENST00000529806.1_Missense_Mutation_p.Q83H	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	113	S5 DRBM. {ECO:0000255|PROSITE- ProRule:PRU00268}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of transferase activity (GO:0051347)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGGTCTGCTTCTGCACTGGCA	0.547																																						ENST00000529806.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						c.(247-249)caG>caT		ribosomal protein S2							8	11	10					16																	2013186		2193	4289	6482	SO:0001583	missense	6187				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome	g.chr16:2013186C>A	AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"S ribosomal proteins"	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.339G>T	16.37:g.2013186C>A	ENSP00000341885:p.Gln113His		Somatic				RPS2_ENST00000343262.4_Missense_Mutation_p.Q113H|RPS2_ENST00000530225.1_Missense_Mutation_p.Q113H|RPS2_ENST00000526522.1_Missense_Mutation_p.Q113H	p.Q83H			WXS	Illumina GAIIx	Phase_I	P15880	RS2_HUMAN			2	435	-			113					B2R5G0|D3DU82|Q3MIB1	Missense_Mutation	SNP	ENST00000343262.4	37	c.249G>T	CCDS10452.1	.	.	.	.	.	.	.	.	.	.	c	10.57	1.387523	0.25031	.	.	ENSG00000140988	ENST00000526522;ENST00000530225;ENST00000343262;ENST00000529806;ENST00000527302	.	.	.	3.91	0.751	0.18392	Ribosomal protein S5, N-terminal (2);Double-stranded RNA-binding-like (1);	0.000000	0.64402	U	0.000002	T	0.77870	0.4195	H	0.97564	4.03	0.80722	D	1	P;P	0.46784	0.884;0.862	P;P	0.49853	0.624;0.5	T	0.80130	-0.1511	9	0.87932	D	0	.	9.4688	0.38829	0.0:0.7953:0.0:0.2047	.	113;113	P15880;E9PQD7	RS2_HUMAN;.	H	113;113;113;83;113	.	ENSP00000341885:Q113H	Q	-	3	2	RPS2	1953187	0.998000	0.40836	0.999000	0.59377	0.684000	0.39900	0.635000	0.24629	-0.002000	0.14469	-0.411000	0.06167	CAG		0.547	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250613.2	NM_002952		3	5	1	0	1	1	1	3	5					A	2013186	C	A	2013186	3	1	55	1	0	0	0	0	1	0	0	0	13646	912	32	2	558	2	RPS2	16	2013186	Missense_Mutation	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08	979361	2013186	88341567	46	9648										
PRPF8	10594	broad.mit.edu	37	chr17	1559836	1559837	+	In_Frame_Ins	INS	-	-	TTT													0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	ccgatcctttgatgacaataINSttggggaagtccagtaagtg							TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr17:1559836_1559837insTTT	ENST00000572621.1	-	35	5907_5908	c.5642_5643insAAA	c.(5641-5643)aat>aaAAAt	p.1880_1881insK	PRPF8_ENST00000575116.1_5'Flank|PRPF8_ENST00000304992.6_In_Frame_Ins_p.1880_1881insK			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1880	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGATGACAATATTGGGGAAGTC	0.505																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(5641-5643)aat>aAAAat		pre-mRNA processing factor 8																																				SO:0001652	inframe_insertion	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1559836_1559837insTTT	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.5642_5643insAAA	17.37:g.1559836_1559837insTTT	ENSP00000460348:p.Pro1880_Asn1881insLys		Somatic				PRPF8_ENST00000304992.6_In_Frame_Ins_p.1880_1881insK	p.1880_1881insK			WXS	Illumina GAIIx	Phase_I	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	35	5907_5908	-			1880			Involved in interaction with pre-mRNA 5' splice site.		O14547|O75965	In_Frame_Ins	INS	ENST00000572621.1	37	c.5642_5643insAAA	CCDS11010.1																																																																																				0.505	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			7	77						7	77	---	---	---	---	TTT	1559837	-	TTT	1559836	7	5	55	1	0	1	1	0	0	0	0	0	12587	446	16	0	1396	0	PRPF8	17	1559836	In_Frame_Ins	INS	-	TCGA-NG-A4VW-01A-11D-A28R-08		1559836	79635374	47	9649										
WSCD1	23302	broad.mit.edu	37	chr17	6023654	6023654	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	ccggactttgtcaacagctaCgcctcgtggtggtcctcgca	11	14	1	0	rs369854579	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr17:6023654C>T	ENST00000574946.1	+	9	1791	c.1401C>T	c.(1399-1401)taC>taT	p.Y467Y	WSCD1_ENST00000317744.5_Silent_p.Y467Y|WSCD1_ENST00000574232.1_Silent_p.Y467Y|WSCD1_ENST00000539421.1_Silent_p.Y467Y|WSCD1_ENST00000573634.1_Silent_p.Y351Y			Q658N2	WSCD1_HUMAN	WSC domain containing 1	467						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.Y467Y(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TCAACAGCTACGCCTCGTGGT	0.677													C|||	2	0.000399361	8e-04	0	5008	,	,		17657	0		0	False		,,,				2504	0.001					ENST00000574946.1																			1	Substitution - coding silent(1)	p.Y467Y(1)	endometrium(1)	breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(1399-1401)taC>taT		WSC domain containing 1		C		1,4405	4.2+/-10.8	0,1,2202	137	131	133		1401	-9.7	0.1	17		133	0,8600		0,0,4300	no	coding-synonymous	WSCD1	NM_015253.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		467/576	6023654	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23302					integral to membrane	sulfotransferase activity	g.chr17:6023654C>T		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1401C>T	17.37:g.6023654C>T			Somatic				WSCD1_ENST00000539421.1_Silent_p.Y467Y|WSCD1_ENST00000317744.5_Silent_p.Y467Y|WSCD1_ENST00000573634.1_Silent_p.Y351Y|WSCD1_ENST00000574232.1_Silent_p.Y467Y	p.Y467Y			WXS	Illumina GAIIx	Phase_I	Q658N2	WSCD1_HUMAN			9	1791	+			467					A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	ENST00000574946.1	37	c.1401C>T	CCDS32538.1																																																																																				0.677	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		42	229	0	0	0	1	0	42	229					T	6023654	C	T	6023654	2	4	55	1	0	0	0	0	0	0	0	1	17421	547	19	1		1	WSCD1	17	6023654	Silent	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08	4463818	6023654	75171556	48	9650										
GAS2L2	246176	broad.mit.edu	37	chr17	34073283	34073283	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	gtgggaatccttcccctgggGagttcaggggggtatctctc	15	10	2	0			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr17:34073283G>A	ENST00000254466.6	-	6	1260	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	GAS2L2_ENST00000587565.1_Silent_p.L395L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	411					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)		TTCCCCTGGGGAGTTCAGGGG	0.597																																						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.(1231-1233)ctC>ctT		growth arrest-specific 2 like 2							108	120	116					17																	34073283		2203	4300	6503	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34073283G>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.1233C>T	17.37:g.34073283G>A			Somatic				GAS2L2_ENST00000587565.1_Silent_p.L395L	p.L411L	NM_139285.3	NP_644814.1	WXS	Illumina GAIIx	Phase_I	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1260	-		Ovarian(249;0.17)	411					Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.1233C>T	CCDS11298.1																																																																																				0.597	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		30	156	0	0	0	1	0	30	156					A	34073283	G	A	34073283	2	1	55	1	0	0	0	0	0	0	0	1	6255	1161	41	3		3	GAS2L2	17	34073283	Silent	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08	28049629	34073283	47121927	49	9651										
ABCA8	10351	broad.mit.edu	37	chr17	66873704	66873704	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	cctttcctcagccctttcacGgcggcgtacacctccaggtg	9	17	2	0			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr17:66873704G>A	ENST00000269080.2	-	31	4172	c.4035C>T	c.(4033-4035)gcC>gcT	p.A1345A	ABCA8_ENST00000586539.1_Silent_p.A1385A|ABCA8_ENST00000430352.2_Silent_p.A1385A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1345	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)					GCCCTTTCACGGCGGCGTACA	0.617																																						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.(4033-4035)gcC>gcT		ATP-binding cassette, sub-family A (ABC1), member 8							170	152	158					17																	66873704		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66873704G>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.4035C>T	17.37:g.66873704G>A			Somatic				ABCA8_ENST00000430352.2_Silent_p.A1385A|ABCA8_ENST00000586539.1_Silent_p.A1385A	p.A1345A	NM_007168.2	NP_009099.1	WXS	Illumina GAIIx	Phase_I	O94911	ABCA8_HUMAN			31	4172	-	Breast(10;4.56e-13)		1345			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.4035C>T	CCDS11680.1																																																																																				0.617	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		40	226	0	0	0	1	0	40	226					A	66873704	G	A	66873704	2	1	55	1	0	0	0	0	0	0	0	1	38	1103	39	1		1	ABCA8	17	66873704	Silent	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08	32800421	66873704	14321506	50	9652										
PSMG2	56984	broad.mit.edu	37	chr18	12725487	12725487	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	gtggaaaataccaagttcttGgagattactctttggcagtg	11	6	2	1			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr18:12725487G>A	ENST00000317615.6	+	7	1434	c.752G>A	c.(751-753)tGg>tAg	p.W251*	PSMG2_ENST00000585331.2_Nonsense_Mutation_p.W220*	NM_020232.4	NP_064617.2			proteasome (prosome, macropain) assembly chaperone 2											lung(1)|prostate(2)|skin(1)	4						CCAAGTTCTTGGAGATTACTC	0.373																																						ENST00000317615.6																			0				lung(1)|prostate(2)|skin(1)	4						c.(751-753)tGg>tAg		proteasome (prosome, macropain) assembly chaperone 2							147	149	149					18																	12725487		2203	4300	6503	SO:0001587	stop_gained	56984				proteasome assembly	nucleus	protein binding	g.chr18:12725487G>A	AF276707	CCDS11862.1, CCDS67440.1	18p11.21	2012-01-25	2007-10-23	2007-10-23	ENSG00000128789	ENSG00000128789			24929	protein-coding gene	gene with protein product	"hepatocellular carcinoma susceptibility protein", "CD40 ligand-activated specific transcript 3"	609702	"tumor necrosis factor superfamily, member 5-induced protein 1"	TNFSF5IP1		11854909, 12147697, 17189198	Standard	NM_147163		Approved	HCCA3, MDS003, MGC15092, CLAST3, HsT1707, PAC2	uc002krk.3	Q969U7	OTTHUMG00000131703	ENST00000317615.6:c.752G>A	18.37:g.12725487G>A	ENSP00000325919:p.Trp251*		Somatic				RP11-973H7.2_ENST00000585331.1_RNA	p.W251*	NM_020232.4|NM_147163.1	NP_064617.2|NP_671692.1	WXS	Illumina GAIIx	Phase_I	Q969U7	PSMG2_HUMAN			7	1434	+			251						Nonsense_Mutation	SNP	ENST00000317615.6	37	c.752G>A	CCDS11862.1	.	.	.	.	.	.	.	.	.	.	G	42	9.520074	0.99193	.	.	ENSG00000128789	ENST00000317615	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2029	19.4842	0.95022	0.0:0.0:1.0:0.0	.	.	.	.	X	251	.	ENSP00000325919:W251X	W	+	2	0	PSMG2	12715487	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.354000	0.79424	2.777000	0.95525	0.591000	0.81541	TGG		0.373	PSMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254615.1	NM_020232		18	84	0	0	0	1	0	18	84					A	12725487	G	A	12725487	4	1	55	1	0	0	0	0	0	1	0	0	12724	1357	47	3	778	3	PSMG2	18	12725487	Nonsense_Mutation	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08		12725487	65351761	51	9653										
C19orf57	79173	broad.mit.edu	37	chr19	14000258	14000258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	cggggacacacggaacccctCgaggtctcgttcgaggttct	13	13	2	0	rs527426427	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr19:14000258C>T	ENST00000586783.1	-	5	1410	c.1411G>A	c.(1411-1413)Gag>Aag	p.E471K	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.E471K|C19orf57_ENST00000454313.1_Missense_Mutation_p.E471K			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	471					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)			CGGAACCCCTCGAGGTCTCGT	0.597													C|||	2	0.000399361	0	0	5008	,	,		16938	0.002		0	False		,,,				2504	0					ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1411-1413)Gag>Aag		chromosome 19 open reading frame 57							63	66	65					19																	14000258		2203	4300	6503	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14000258C>T	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.1411G>A	19.37:g.14000258C>T	ENSP00000465822:p.Glu471Lys		Somatic				C19orf57_ENST00000586783.1_Missense_Mutation_p.E471K|C19orf57_ENST00000346736.2_Missense_Mutation_p.E471K|C19orf57_ENST00000591586.1_Intron	p.E471K			WXS	Illumina GAIIx	Phase_I	Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	1469	-			471					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.1411G>A		.	.	.	.	.	.	.	.	.	.	C	15.55	2.865741	0.51588	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.38887	1.11;1.11	4.69	-7.58	0.01313	.	2.277220	0.01710	N	0.027661	T	0.16171	0.0389	N	0.14661	0.345	0.09310	N	1	B;B	0.32051	0.354;0.354	B;B	0.26094	0.037;0.066	T	0.20273	-1.0280	10	0.07990	T	0.79	0.9965	1.7373	0.02944	0.122:0.2101:0.2398:0.4281	.	471;471	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	K	471	ENSP00000404382:E471K;ENSP00000254336:E471K	ENSP00000254336:E471K	E	-	1	0	C19orf57	13861258	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.637000	0.02015	-1.368000	0.02149	-0.377000	0.06932	GAG		0.597	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		20	123	0	0	0	1	0	20	123					T	14000258	C	T	14000258	3	4	55	1	0	0	0	0	1	0	0	0	1941	893	31	1	514	1	C19orf57	19	14000258	Missense_Mutation	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08		14000258	45128725	52	9654										
FUT1	2523	broad.mit.edu	37	chr19	49253880	49253880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	cctgcagatagtccccacggCgcacgtggacgccgacaaag	12	15	0	1			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr19:49253880C>T	ENST00000310160.3	-	4	1633	c.659G>A	c.(658-660)cGc>cAc	p.R220H	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	220					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GTCCCCACGGCGCACGTGGAC	0.692																																						ENST00000310160.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17	GRCh37	CM004475	FUT1	M		c.(658-660)cGc>cAc		fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)							70	69	69					19																	49253880		2203	4299	6502	SO:0001583	missense	2523				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49253880C>T		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"Blood group antigens", "Fucosyltransferases"	4012	protein-coding gene	gene with protein product		211100	"fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)", "fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.659G>A	19.37:g.49253880C>T	ENSP00000312021:p.Arg220His		Somatic					p.R220H	NM_000148.3	NP_000139.1	WXS	Illumina GAIIx	Phase_I	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	4	1633	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	220					O14505|O14506|O14507	Missense_Mutation	SNP	ENST00000310160.3	37	c.659G>A	CCDS12733.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629536	0.87660	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.98978	-5.29	4.43	4.43	0.53597	.	0.000000	0.53938	D	0.000048	D	0.99318	0.9761	M	0.89214	3.015	0.46521	D	0.999089	D	0.89917	1.0	D	0.87578	0.998	D	0.98660	1.0683	10	0.87932	D	0	-15.7467	14.9385	0.70975	0.0:1.0:0.0:0.0	.	220	P19526	FUT1_HUMAN	H	220;210	ENSP00000312021:R220H	ENSP00000312021:R220H	R	-	2	0	FUT1	53945692	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.568000	0.60857	2.479000	0.83701	0.563000	0.77884	CGC		0.692	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148		32	171	0	0	0	1	0	32	171					T	49253880	C	T	49253880	3	4	55	1	0	0	0	0	1	0	0	0	6109	768	27	1	442	1	FUT1	19	49253880	Missense_Mutation	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08	35253622	49253880	9875103	53	9655										
ZNF415	55786	broad.mit.edu	37	chr19	53612426	53612426	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	tctctccagtgtgaactctcCgatgtagtgcaaggcatgag	11	10	2	2	rs138480197	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr19:53612426C>T	ENST00000500065.4	-	4	1205	c.872G>A	c.(871-873)cGg>cAg	p.R291Q	ZNF415_ENST00000455735.2_Missense_Mutation_p.R339Q|ZNF415_ENST00000421033.1_Missense_Mutation_p.R303Q|ZNF415_ENST00000243643.4_Missense_Mutation_p.R291Q|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.R61Q|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.R339Q|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.R278Q	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R291L(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GTGAACTCTCCGATGTAGTGC	0.418																																						ENST00000455735.2																			1	Substitution - Missense(1)	p.R291L(1)	large_intestine(1)	breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1015-1017)cGg>cAg		zinc finger protein 415		C	GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	101	89	93		872,872,872	-5.6	0	19	dbSNP_134	93	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	ZNF415	NM_001136038.2,NM_001164309.1,NM_018355.2	43,43,43	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign,benign	291/556,291/556,291/556	53612426	3,13003	2203	4300	6503	SO:0001583	missense	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612426C>T	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"Zinc fingers, C2H2-type", "-"	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.872G>A	19.37:g.53612426C>T	ENSP00000439435:p.Arg291Gln		Somatic				ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.R291Q|ZNF415_ENST00000440291.1_Missense_Mutation_p.R278Q|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.R303Q|ZNF415_ENST00000500065.4_Missense_Mutation_p.R291Q|ZNF415_ENST00000448501.1_Missense_Mutation_p.R339Q|ZNF415_ENST00000601493.1_Missense_Mutation_p.R61Q|ZNF415_ENST00000597748.1_3'UTR	p.R339Q			WXS	Illumina GAIIx	Phase_I	Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1336	-			339					F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	c.1016G>A	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.607198	0.00842	2.27E-4	2.33E-4	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	2.78	-5.55	0.02536	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04815	0.0130	N	0.05414	-0.055	0.09310	N	1	B;B;B;B;B;B	0.30664	0.0;0.195;0.0;0.047;0.0;0.289	B;B;B;B;B;B	0.28553	0.0;0.091;0.0;0.007;0.0;0.08	T	0.29518	-1.0009	9	0.02654	T	1	.	4.0911	0.09970	0.2495:0.3289:0.0:0.4217	.	291;339;339;291;278;303	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	Q	291;291;339;303;339;278	ENSP00000243643:R291Q;ENSP00000439435:R291Q;ENSP00000396492:R339Q;ENSP00000395055:R303Q;ENSP00000388787:R339Q;ENSP00000414601:R278Q	ENSP00000243643:R291Q	R	-	2	0	ZNF415	58304238	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.175000	0.03102	-2.022000	0.00938	-0.332000	0.08345	CGG		0.418	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		7	40	0	0	0	1	0	7	40					T	53612426	C	T	53612426	3	4	55	1	0	0	0	0	1	0	0	0	17907	652	23	1	799	1	ZNF415	19	53612426	Missense_Mutation	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08	4358546	53612426	5516557	54	9656										
POLR3F	10621	broad.mit.edu	37	chr20	18462374	18462374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	gcacagttggcagtgtagatGgacacatgaaactgtacagg	13	7	0	2			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr20:18462374G>A	ENST00000377603.4	+	8	1173	c.793G>A	c.(793-795)Gga>Aga	p.G265R	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	265				AKEGTVGSVDGHMKLYRAVNPIIPPTGLVRAPCGLC -> C KRRHSWQCRWTHETVQGSQSNHPSHRFGPGHPVDSA (in Ref. 1). {ECO:0000305}.	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)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)	2						CAGTGTAGATGGACACATGAA	0.478																																					GBM(69;898 1468 19907 52011)	ENST00000377603.4																			0				breast(2)	2						c.(793-795)Gga>Aga		polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa							276	243	254					20																	18462374		2203	4300	6503	SO:0001583	missense	10621				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|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|protein binding	g.chr20:18462374G>A	U93869	CCDS13135.1	20p11.23	2013-01-21	2002-08-29		ENSG00000132664	ENSG00000132664		"RNA polymerase subunits"	15763	protein-coding gene	gene with protein product	"RNA polymerase III C39 subunit"		"polymerase (RNA) III (DNA directed) polypeptide F (39 kDa)"			9171375	Standard	NM_006466		Approved	RPC39, RPC6	uc002wqv.3	Q9H1D9	OTTHUMG00000031971	ENST00000377603.4:c.793G>A	20.37:g.18462374G>A	ENSP00000366828:p.Gly265Arg		Somatic				POLR3F_ENST00000462997.1_3'UTR	p.G265R	NM_006466.2	NP_006457.2	WXS	Illumina GAIIx	Phase_I	Q9H1D9	RPC6_HUMAN			8	1173	+			265	AKEGTVGSVDGHMKLYRAVNPIIPPTGLVRAPCGLC -> C KRRHSWQCRWTHETVQGSQSNHPSHRFGPGHPVDSA (in Ref. 1).				A8K4C7|O15319	Missense_Mutation	SNP	ENST00000377603.4	37	c.793G>A	CCDS13135.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907193	0.72868	.	.	ENSG00000132664	ENST00000377603	.	.	.	5.74	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.57242	0.2040	M	0.61703	1.905	0.80722	D	1	P	0.45634	0.863	P	0.44597	0.454	T	0.55237	-0.8172	9	0.16896	T	0.51	-26.9185	14.7433	0.69472	0.0691:0.0:0.9309:0.0	.	265	Q9H1D9	RPC6_HUMAN	R	265	.	ENSP00000366828:G265R	G	+	1	0	POLR3F	18410374	1.000000	0.71417	0.940000	0.37924	0.981000	0.71138	9.286000	0.95898	1.440000	0.47531	0.655000	0.94253	GGA		0.478	POLR3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078170.2	NM_006466		6	281	0	0	0	1	0	6	281					A	18462374	G	A	18462374	3	1	55	1	0	0	0	0	1	0	0	0	12242	1349	47	3	823	3	POLR3F	20	18462374	Missense_Mutation	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08		18462374	44563146	55	9657										
NDRG3	57446	broad.mit.edu	37	chr20	35317150	35317150	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	tgggtaagcctcttatagtgAcgtggaccacaccatgagtt	11	9	1	2			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr20:35317150A>G	ENST00000349004.1	-	4	212	c.131T>C	c.(130-132)gTc>gCc	p.V44A	NDRG3_ENST00000359675.2_Missense_Mutation_p.V32A|NDRG3_ENST00000373773.3_Intron|NDRG3_ENST00000540765.1_Intron|NDRG3_ENST00000373803.2_Missense_Mutation_p.V44A	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	44					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TCTTATAGTGACGTGGACCAC	0.383																																						ENST00000373803.2																			0				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(130-132)gTc>gCc		NDRG family member 3							272	212	232					20																	35317150		2203	4300	6503	SO:0001583	missense	57446				cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		g.chr20:35317150A>G	AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.131T>C	20.37:g.35317150A>G	ENSP00000345292:p.Val44Ala		Somatic				NDRG3_ENST00000540765.1_Intron|NDRG3_ENST00000349004.1_Missense_Mutation_p.V44A|NDRG3_ENST00000373773.3_Intron|NDRG3_ENST00000359675.2_Missense_Mutation_p.V32A	p.V44A			WXS	Illumina GAIIx	Phase_I	Q9UGV2	NDRG3_HUMAN			4	187	-		Myeloproliferative disorder(115;0.00878)	44					A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	ENST00000349004.1	37	c.131T>C	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.161587	0.78226	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000422536	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.35	5.35	0.76521	.	0.059249	0.64402	D	0.000003	T	0.47911	0.1471	M	0.90483	3.12	0.80722	D	1	P;P	0.48162	0.835;0.906	B;P	0.45610	0.396;0.487	T	0.61163	-0.7118	10	0.87932	D	0	.	13.3191	0.60423	1.0:0.0:0.0:0.0	.	32;44	Q9UGV2-2;Q9UGV2	.;NDRG3_HUMAN	A	44;44;32;35	ENSP00000345292:V44A;ENSP00000362909:V44A;ENSP00000352703:V32A;ENSP00000416636:V35A	ENSP00000345292:V44A	V	-	2	0	NDRG3	34750564	1.000000	0.71417	0.969000	0.41365	0.857000	0.48899	6.587000	0.74071	2.243000	0.73865	0.533000	0.62120	GTC		0.383	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			10	56	0	0	0	1	0	10	56					G	35317150	A	G	35317150	3	3	55	1	0	0	0	0	1	0	0	0	10262	275	10	4	1048	4	NDRG3	20	35317150	Missense_Mutation	SNP	A	TCGA-NG-A4VW-01A-11D-A28R-08	16854776	35317150	27708370	56	9658										
CSF2RA	1438	broad.mit.edu	37	chrX	1414328	1414328	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	ttttgtttctagaatacccaGcctggcacggaaaacctact	7	11	1	1			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chrX:1414328G>C	ENST00000381524.3	+	9	975	c.789G>C	c.(787-789)caG>caC	p.Q263H	MIR3690_ENST00000580266.1_RNA|CSF2RA_ENST00000355432.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000381509.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.Q263H|BX649553.2_ENST00000578699.1_RNA|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000501036.2_Missense_Mutation_p.Q130H|CSF2RA_ENST00000417535.2_Missense_Mutation_p.Q263H|CSF2RA_ENST00000432318.2_Missense_Mutation_p.Q263H|CSF2RA_ENST00000361536.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000355805.2_Intron|BX649553.1_ENST00000583047.1_RNA			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	263	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGAATACCCAGCCTGGCACGG	0.483																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(787-789)caG>caC		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						643	609	620					X																	1414328		2203	4296	6499	SO:0001583	missense	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1414328G>C	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.789G>C	X.37:g.1414328G>C	ENSP00000370935:p.Gln263His		Somatic				CSF2RA_ENST00000417535.2_Missense_Mutation_p.Q263H|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381509.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000432318.2_Missense_Mutation_p.Q263H|CSF2RA_ENST00000501036.2_Missense_Mutation_p.Q130H|CSF2RA_ENST00000355432.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000381500.1_Missense_Mutation_p.Q263H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000361536.3_Missense_Mutation_p.Q263H	p.Q263H			WXS	Illumina GAIIx	Phase_I	P15509	CSF2R_HUMAN			9	975	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	263					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.789G>C	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	0.924	-0.714788	0.03206	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;T;D;D	0.96041	-3.89;-3.89;-3.39;-3.36;-3.89;-3.89;1.13;-3.89;-3.39	0.474	-0.948	0.10379	Fibronectin, type III (2);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92034	0.7476	.	.	.	0.09310	N	1	P;P;P;P;P	0.50272	0.933;0.89;0.845;0.845;0.759	B;B;B;P;B	0.46299	0.199;0.403;0.108;0.511;0.314	D	0.84372	0.0544	7	0.38643	T	0.18	.	.	.	.	.	263;263;263;263;263	P15509-2;A7J003;P15509-3;P15509-5;P15509	.;.;.;.;CSF2R_HUMAN	H	263;263;263;263;130;263;263;263;263;263	ENSP00000370940:Q263H;ENSP00000416437:Q263H;ENSP00000354836:Q263H;ENSP00000440491:Q130H;ENSP00000370935:Q263H;ENSP00000370920:Q263H;ENSP00000347606:Q263H;ENSP00000394227:Q263H;ENSP00000370911:Q263H	ENSP00000347606:Q263H	Q	+	3	2	CSF2RA	1374328	0.000000	0.05858	0.000000	0.03702	0.324000	0.28378	-0.886000	0.04157	-0.633000	0.05545	0.100000	0.15512	CAG		0.483	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			54	225	0	0	0	1	0	54	225					C	1414328	G	C	1414328	3	2	55	1	0	0	0	0	1	0	0	0	3936	962	34	5	815	5	CSF2RA	23	1414328	Missense_Mutation	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08		1414328	153856232	57	9659										
ANKRD58	347454	broad.mit.edu	37	chrX	118893526	118893526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	caccgcgggcagccgggtggCgcaaatgcatagccttttcc	13	14	0	0			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chrX:118893526C>T	ENST00000343905.3	+	1	951	c.896C>T	c.(895-897)gCg>gTg	p.A299V		NM_001105576.2	NP_001099046.1	A6NJG2	SWAHD_HUMAN	sosondowah ankyrin repeat domain family member D	299																	AGCCGGGTGGCGCAAATGCAT	0.647																																						ENST00000343905.3																			0											c.(895-897)gCg>gTg		sosondowah ankyrin repeat domain family member D							15	19	17					X																	118893526		2129	4144	6273	SO:0001583	missense	347454							g.chrX:118893526C>T		CCDS43984.1	Xq24	2013-01-10	2012-01-12	2012-01-12	ENSG00000187808	ENSG00000187808		"Ankyrin repeat domain containing"	32960	protein-coding gene	gene with protein product			"ankyrin repeat domain 58"	ANKRD58		22234889	Standard	NM_001105576		Approved		uc010nql.3	A6NJG2	OTTHUMG00000159606	ENST00000343905.3:c.896C>T	X.37:g.118893526C>T	ENSP00000340975:p.Ala299Val		Somatic					p.A299V	NM_001105576.2	NP_001099046.1	WXS	Illumina GAIIx	Phase_I	A6NJG2	ANR58_HUMAN			1	951	+			299						Missense_Mutation	SNP	ENST00000343905.3	37	c.896C>T	CCDS43984.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437914	0.43326	.	.	ENSG00000187808	ENST00000343905	T	0.15952	2.38	4.37	2.48	0.30137	.	.	.	.	.	T	0.09818	0.0241	L	0.40543	1.245	0.09310	N	1	P	0.49635	0.926	B	0.28916	0.096	T	0.23904	-1.0175	9	0.52906	T	0.07	-4.1397	6.4669	0.21987	0.0:0.7043:0.1861:0.1096	.	299	A6NJG2	ANR58_HUMAN	V	299	ENSP00000340975:A299V	ENSP00000340975:A299V	A	+	2	0	ANKRD58	118777554	0.000000	0.05858	0.002000	0.10522	0.042000	0.13812	-0.071000	0.11505	0.831000	0.34780	0.436000	0.28706	GCG		0.647	SOWAHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356469.1	NM_001105576		7	25	0	0	0	1	0	7	25					T	118893526	C	T	118893526	3	4	55	1	0	0	0	0	1	0	0	0	684	768	27	1	898	1	ANKRD58	23	118893526	Missense_Mutation	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08	117479198	118893526	36377034	58	9660										
FLNA	2316	broad.mit.edu	37	chrX	153578523	153578523	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	tgggtgccgttgaacttgacGtcaatcaggtaaacgccatt	11	9	2	2			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chrX:153578523G>A	ENST00000369850.3	-	45	7445	c.7209C>T	c.(7207-7209)gaC>gaT	p.D2403D	FLNA_ENST00000360319.4_Silent_p.D2395D|FLNA_ENST00000422373.1_Silent_p.D2395D|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000369856.3_Silent_p.D536D|FLNA_ENST00000344736.4_Silent_p.D2363D	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2403					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGAACTTGACGTCAATCAGGT	0.592											OREG0003592	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000422373.1																			0				breast(6)	6						c.(7183-7185)gaC>gaT		filamin A, alpha							142	143	143					X																	153578523		2084	4218	6302	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153578523G>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.7209C>T	X.37:g.153578523G>A			Somatic	OREG0003592	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1756	FLNA_ENST00000369856.3_Silent_p.D536D|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000360319.4_Silent_p.D2395D|FLNA_ENST00000344736.4_Silent_p.D2363D|FLNA_ENST00000369850.3_Silent_p.D2403D	p.D2395D	NM_001456.3	NP_001447.2	WXS	Illumina GAIIx	Phase_I	P21333	FLNA_HUMAN			44	7433	-	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)		2403					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.7185C>T	CCDS48194.1																																																																																				0.592	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			56	224	0	0	0	1	0	56	224					A	153578523	G	A	153578523	2	1	55	1	0	0	0	0	0	0	0	1	5941	1136	40	1		1	FLNA	23	153578523	Silent	SNP	G	TCGA-NG-A4VW-01A-11D-A28R-08	34684997	153578523	1692037	59	9661										
FLNA	2316	broad.mit.edu	37	chrX	153592412	153592412	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.546082949308756	0	0.573387096774194	0.142857142857143	0.605042016806723	0	tgaaggggctgttggggatgCtgacgcctccccaggacacc	15	12	0	2			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chrX:153592412C>G	ENST00000369850.3	-	15	2494	c.2258G>C	c.(2257-2259)aGc>aCc	p.S753T	FLNA_ENST00000360319.4_Missense_Mutation_p.S753T|FLNA_ENST00000422373.1_Missense_Mutation_p.S753T|FLNA_ENST00000344736.4_Missense_Mutation_p.S753T	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	753					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTTGGGGATGCTGACGCCTCC	0.577																																						ENST00000422373.1																			0				breast(6)	6						c.(2257-2259)aGc>aCc		filamin A, alpha							85	92	90					X																	153592412		2092	4184	6276	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153592412C>G	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.2258G>C	X.37:g.153592412C>G	ENSP00000358866:p.Ser753Thr		Somatic				FLNA_ENST00000360319.4_Missense_Mutation_p.S753T|FLNA_ENST00000344736.4_Missense_Mutation_p.S753T|FLNA_ENST00000369850.3_Missense_Mutation_p.S753T	p.S753T	NM_001456.3	NP_001447.2	WXS	Illumina GAIIx	Phase_I	P21333	FLNA_HUMAN			15	2506	-	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)		753					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.2258G>C	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015536	0.54468	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	4.95	2.87	0.33458	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.122206	0.50627	D	0.000112	T	0.57460	0.2055	L	0.39898	1.24	0.80722	D	1	B;B	0.28880	0.226;0.004	B;B	0.31946	0.138;0.024	T	0.55289	-0.8164	10	0.54805	T	0.06	.	4.3808	0.11293	0.0:0.3888:0.0:0.6112	.	753;753	P21333-2;P21333	.;FLNA_HUMAN	T	753;726;753;753;753	ENSP00000353467:S753T;ENSP00000416926:S753T;ENSP00000358866:S753T;ENSP00000358863:S753T	ENSP00000358863:S753T	S	-	2	0	FLNA	153245606	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.402000	0.34600	0.884000	0.36064	0.525000	0.51046	AGC		0.577	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			40	147	0	0	0	1	0	40	147					G	153592412	C	G	153592412	3	3	55	1	0	0	0	0	1	0	0	0	5941	797	28	5	5821	5	FLNA	23	153592412	Missense_Mutation	SNP	C	TCGA-NG-A4VW-01A-11D-A28R-08	13889	153592412	1678148	60	9662										
DHX9	1660	broad.mit.edu	37	chr1	182829308	182829308	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	gagcagcagagtgtaacatcGtagtaactcaggtaagtggt	13	6	1	1			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:182829308G>T	ENST00000367549.3	+	12	1431	c.1321G>T	c.(1321-1323)Gta>Tta	p.V441L		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	441	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)			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						GTGTAACATCGTAGTAACTCA	0.378																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				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.(1321-1323)Gta>Tta		DEAH (Asp-Glu-Ala-His) box helicase 9							50	46	47					1																	182829308		1846	4086	5932	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.chr1:182829308G>T	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.1321G>T	1.37:g.182829308G>T	ENSP00000356520:p.Val441Leu		Somatic					p.V441L	NM_001357.4	NP_001348.2	WXS	Illumina GAIIx	Phase_I	Q08211	DHX9_HUMAN			12	1431	+			441			Helicase ATP-binding.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.1321G>T	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.687166	0.68157	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.10192	2.9	5.58	5.58	0.84498	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.13670	0.0331	L	0.42744	1.35	0.80722	D	1	P	0.39535	0.677	B	0.38327	0.271	T	0.01566	-1.1323	10	0.45353	T	0.12	.	19.1935	0.93677	0.0:0.0:1.0:0.0	.	441	Q08211	DHX9_HUMAN	L	441	ENSP00000356520:V441L	ENSP00000356520:V441L	V	+	1	0	DHX9	181095931	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.178000	0.77657	2.641000	0.89580	0.563000	0.77884	GTA		0.378	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		22	45	1	0	5.26018e-13	1	6.11318e-13	22	45					T	182829308	G	T	182829308	3	4	56	1	0	0	0	0	1	0	0	0	4518	1145	40	5	1363	5	DHX9	1	182829308	Missense_Mutation	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08		182829308	66421313	1	9663										
PLEKHA6	22874	broad.mit.edu	37	chr1	204237436	204237436	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	cggctttgcgggctgtgcgaGttgcctgggggcagagagag	20	8	0	2			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:204237436G>C	ENST00000272203.3	-	4	423	c.107C>G	c.(106-108)aCt>aGt	p.T36S	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.T36S	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	36										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)			GGCTGTGCGAGTTGCCTGGGG	0.597																																						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.(106-108)aCt>aGt		pleckstrin homology domain containing, family A member 6							72	62	66					1																	204237436		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204237436G>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.107C>G	1.37:g.204237436G>C	ENSP00000272203:p.Thr36Ser		Somatic				PLEKHA6_ENST00000414478.1_Missense_Mutation_p.T36S	p.T36S	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)		4	423	-	all_cancers(21;0.0222)|Breast(84;0.179)		36					A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.107C>G	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	G	8.515	0.867521	0.17250	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.08193	3.12;3.6	5.58	5.58	0.84498	.	0.393267	0.28712	N	0.014383	T	0.04679	0.0127	N	0.10707	0.03	0.22737	N	0.998797	B	0.02656	0.0	B	0.06405	0.002	T	0.35176	-0.9799	10	0.02654	T	1	-13.3446	17.3355	0.87280	0.0:0.0:1.0:0.0	.	36	Q9Y2H5	PKHA6_HUMAN	S	36	ENSP00000272203:T36S;ENSP00000402046:T36S	ENSP00000272203:T36S	T	-	2	0	PLEKHA6	202504059	0.912000	0.30974	0.274000	0.24659	0.498000	0.33706	5.401000	0.66326	2.611000	0.88343	0.591000	0.81541	ACT		0.597	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		33	29	0	0	0	1	0	33	29					C	204237436	G	C	204237436	3	2	56	1	0	0	0	0	1	0	0	0	12069	1029	36	5	3115	5	PLEKHA6	1	204237436	Missense_Mutation	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08	21408128	204237436	45013185	2	9664										
CNTN2	6900	broad.mit.edu	37	chr1	205031674	205031674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	taagcacggtaccatctacgCcagcgccgagctagccgtgc	11	15	1	0			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:205031674C>T	ENST00000331830.4	+	10	1501	c.1217C>T	c.(1216-1218)gCc>gTc	p.A406V	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	406	Ig-like C2-type 4.				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)			ACCATCTACGCCAGCGCCGAG	0.582																																					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.(1216-1218)gCc>gTc		contactin 2 (axonal)							71	57	62					1																	205031674		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.chr1:205031674C>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.1217C>T	1.37:g.205031674C>T	ENSP00000330633:p.Ala406Val		Somatic					p.A406V	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)		10	1501	+	all_cancers(21;0.144)|Breast(84;0.0437)		406			Ig-like C2-type 4.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.1217C>T	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955140	0.92726	.	.	ENSG00000184144	ENST00000331830	T	0.69040	-0.37	5.5	4.59	0.56863	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000112	T	0.75332	0.3835	M	0.69358	2.11	0.46458	D	0.999053	P;D	0.61080	0.954;0.989	P;P	0.55999	0.691;0.789	T	0.78732	-0.2089	10	0.87932	D	0	.	13.6914	0.62549	0.0:0.9248:0.0:0.0752	.	406;297	Q02246;Q68DA2	CNTN2_HUMAN;.	V	406	ENSP00000330633:A406V	ENSP00000330633:A406V	A	+	2	0	CNTN2	203298297	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	7.285000	0.78660	1.317000	0.45149	0.650000	0.86243	GCC		0.582	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		42	39	0	0	0	1	0	42	39					T	205031674	C	T	205031674	3	4	56	1	0	0	0	0	1	0	0	0	3643	739	26	3	1251	3	CNTN2	1	205031674	Missense_Mutation	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08	794238	205031674	44218947	3	9665										
MAP2	4133	broad.mit.edu	37	chr2	210559085	210559085	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	tttctcctctggcttccgatAttctaaccaacactagtgga	6	12	3	0			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr2:210559085A>G	ENST00000360351.4	+	7	2697	c.2191A>G	c.(2191-2193)Att>Gtt	p.I731V	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I727V|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	731					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)	GGCTTCCGATATTCTAACCAA	0.468																																					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.(2191-2193)Att>Gtt		microtubule-associated protein 2	Estramustine(DB01196)						140	136	137					2																	210559085		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.chr2:210559085A>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.2191A>G	2.37:g.210559085A>G	ENSP00000353508:p.Ile731Val		Somatic				MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I727V|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	p.I731V	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	2697	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	731					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2191A>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	19.73	3.881805	0.72294	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.21543	2.0;2.0	5.96	5.96	0.96718	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000005	T	0.44371	0.1290	M	0.63843	1.955	0.58432	D	0.999991	D;D	0.71674	0.994;0.998	D;D	0.67548	0.919;0.952	T	0.35325	-0.9793	10	0.87932	D	0	-16.9319	16.4343	0.83869	1.0:0.0:0.0:0.0	.	727;731	P11137-3;P11137	.;MAP2_HUMAN	V	731;727	ENSP00000353508:I731V;ENSP00000392164:I727V	ENSP00000353508:I731V	I	+	1	0	MAP2	210267330	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.858000	0.75461	2.285000	0.76669	0.528000	0.53228	ATT		0.468	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		36	143	0	0	0	1	0	36	143					G	210559085	A	G	210559085	3	3	56	1	0	0	0	0	1	0	0	0	9244	449	16	4	2205	4	MAP2	2	210559085	Missense_Mutation	SNP	A	TCGA-QM-A5NM-01A-11D-A28R-08		210559085	32640288	4	9666										
IL5RA	3568	broad.mit.edu	37	chr3	3143448	3143448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	gtcgttctgcaggatggtccGcacacttgctgaaaagcctt	11	11	1	1			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr3:3143448G>A	ENST00000446632.2	-	5	869	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	IL5RA_ENST00000445864.2_Missense_Mutation_p.R99W|IL5RA_ENST00000256452.3_Missense_Mutation_p.R99W|IL5RA_ENST00000456302.1_Missense_Mutation_p.R99W|IL5RA_ENST00000438560.1_Missense_Mutation_p.R99W|IL5RA_ENST00000311981.8_Missense_Mutation_p.R99W|IL5RA_ENST00000383846.1_Missense_Mutation_p.R99W|IL5RA_ENST00000418488.2_Missense_Mutation_p.R99W|IL5RA_ENST00000430514.2_Missense_Mutation_p.R99W|SNORA43_ENST00000517240.1_RNA	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	99	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AGGATGGTCCGCACACTTGCT	0.463																																					GBM(169;430 2801 24955 28528)	ENST00000446632.2																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24						c.(295-297)Cgg>Tgg		interleukin 5 receptor, alpha							119	109	112					3																	3143448		2203	4300	6503	SO:0001583	missense	0				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	g.chr3:3143448G>A	M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"Interleukins and interleukin receptors", "CD molecules"	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.295C>T	3.37:g.3143448G>A	ENSP00000412209:p.Arg99Trp		Somatic				IL5RA_ENST00000430514.2_Missense_Mutation_p.R99W|IL5RA_ENST00000256452.3_Missense_Mutation_p.R99W|IL5RA_ENST00000445864.2_Missense_Mutation_p.R99W|IL5RA_ENST00000418488.2_Missense_Mutation_p.R99W|IL5RA_ENST00000456302.1_Missense_Mutation_p.R99W|IL5RA_ENST00000438560.1_Missense_Mutation_p.R99W|IL5RA_ENST00000311981.8_Missense_Mutation_p.R99W|IL5RA_ENST00000383846.1_Missense_Mutation_p.R99W	p.R99W	NM_175726.3	NP_783853.1	WXS	Illumina GAIIx	Phase_I	Q01344	IL5RA_HUMAN		Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)	5	869	-			99					B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	c.295C>T	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848333	0.51164	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000445864;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701;ENST00000427088	D;D;D;T;T;T;T;T;T;T	0.89270	-2.49;-2.39;-2.49;0.96;1.08;1.04;1.04;1.04;1.04;1.01	5.19	2.3	0.28687	Immunoglobulin-like fold (1);	0.815981	0.11006	N	0.609943	D	0.92074	0.7488	M	0.63843	1.955	0.21915	N	0.999473	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;P;D;D;D	0.77004	0.962;0.977;0.897;0.945;0.989;0.936	T	0.81116	-0.1079	10	0.72032	D	0.01	-6.1948	6.7086	0.23264	0.0845:0.0:0.5918:0.3237	.	99;99;99;99;99;99	B4E2G0;Q01344-3;Q01344-2;Q01344;B3IU77;E7ERY4	.;.;.;IL5RA_HUMAN;.;.	W	99	ENSP00000412209:R99W;ENSP00000390753:R99W;ENSP00000256452:R99W;ENSP00000388858:R99W;ENSP00000402598:R99W;ENSP00000373358:R99W;ENSP00000309196:R99W;ENSP00000400400:R99W;ENSP00000392059:R99W;ENSP00000398117:R99W	ENSP00000256452:R99W	R	-	1	2	IL5RA	3118448	0.968000	0.33430	0.006000	0.13384	0.002000	0.02628	2.882000	0.48546	0.162000	0.19483	-0.142000	0.14014	CGG		0.463	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2			17	21	0	0	0	1	0	17	21					A	3143448	G	A	3143448	3	1	56	1	0	0	0	0	1	0	0	0	7709	1086	38	1	1025	1	IL5RA	3	3143448	Missense_Mutation	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08		3143448	194878982	5	9667										
CORIN	10699	broad.mit.edu	37	chr4	47682239	47682239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	ggcgatgcagcgcccgtcccCgcagcgatgctctgttgtgg	15	14	1	0	rs368765606		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr4:47682239C>T	ENST00000273857.4	-	8	1050	c.1051G>A	c.(1051-1053)Ggg>Agg	p.G351R	CORIN_ENST00000504584.1_Intron|CORIN_ENST00000505909.1_Intron|CORIN_ENST00000502252.1_Missense_Mutation_p.G284R|CORIN_ENST00000508498.1_Missense_Mutation_p.G212R	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	351	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CGCCCGTCCCCGCAGCGATGC	0.547													C|||	1	0.000199681	0	0	5008	,	,		20811	0.001		0	False		,,,				2504	0					ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(1051-1053)Ggg>Agg		corin, serine peptidase		C	ARG/GLY	0,4406		0,0,2203	113	86	95		1051	5.9	1	4		95	2,8598	2.2+/-6.3	0,2,4298	no	missense	CORIN	NM_006587.2	125	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	351/1043	47682239	2,13004	2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47682239C>T	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1051G>A	4.37:g.47682239C>T	ENSP00000273857:p.Gly351Arg		Somatic				CORIN_ENST00000504584.1_Intron|CORIN_ENST00000502252.1_Missense_Mutation_p.G284R|CORIN_ENST00000505909.1_Intron|CORIN_ENST00000508498.1_Missense_Mutation_p.G212R	p.G351R	NM_006587.2	NP_006578.2	WXS	Illumina GAIIx	Phase_I	Q9Y5Q5	CORIN_HUMAN			8	1050	-			351			LDL-receptor class A 3.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.1051G>A	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974964	0.74360	0.0	2.33E-4	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252	D;D;D	0.95482	-3.72;-3.72;-3.72	5.89	5.89	0.94794	.	0.124617	0.51477	D	0.000085	D	0.95310	0.8478	N	0.13327	0.33	0.80722	D	1	D;D	0.89917	0.992;1.0	P;D	0.75484	0.889;0.986	D	0.95453	0.8536	10	0.44086	T	0.13	.	19.0917	0.93229	0.0:1.0:0.0:0.0	.	284;351	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	R	351;212;284	ENSP00000273857:G351R;ENSP00000425597:G212R;ENSP00000424212:G284R	ENSP00000273857:G351R	G	-	1	0	CORIN	47376996	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	4.177000	0.58276	2.799000	0.96334	0.580000	0.79431	GGG		0.547	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			35	17	0	0	0	1	0	35	17					T	47682239	C	T	47682239	3	4	56	1	0	0	0	0	1	0	0	0	3754	652	23	1	2137	1	CORIN	4	47682239	Missense_Mutation	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08		47682239	143472037	6	9668										
MAB21L2	10586	broad.mit.edu	37	chr4	151504556	151504556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	gcgtcgggctatctctcagcGcgtaagatccgctcgcgttt	12	13	2	1			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr4:151504556G>A	ENST00000317605.4	+	1	1480	c.375G>A	c.(373-375)gcG>gcA	p.A125A	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000535741.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	125					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		ATCTCTCAGCGCGTAAGATCC	0.627																																						ENST00000317605.4																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21						c.(373-375)gcG>gcA		mab-21-like 2 (C. elegans)							103	100	101					4																	151504556		2203	4300	6503	SO:0001819	synonymous_variant	10586				nervous system development	nucleus		g.chr4:151504556G>A	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"mab-21 (C. elegans)-like 2"				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.375G>A	4.37:g.151504556G>A			Somatic				LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron	p.A125A	NM_006439.4	NP_006430.1	WXS	Illumina GAIIx	Phase_I	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1480	+	all_hematologic(180;0.151)		125					B3KP37|Q9HBA7	Silent	SNP	ENST00000317605.4	37	c.375G>A	CCDS3774.1																																																																																				0.627	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		41	105	0	0	0	1	0	41	105					A	151504556	G	A	151504556	2	1	56	1	0	0	0	0	0	0	0	1	9151	1074	38	1		1	MAB21L2	4	151504556	Silent	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08	103822317	151504556	39649720	7	9669										
CEP72	55722	broad.mit.edu	37	chr5	639302	639302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	ctggtggacaggagctggggCggctgcaggtccctgcacag	18	11	0	0	rs376000627		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:639302C>T	ENST00000264935.5	+	8	1395	c.1305C>T	c.(1303-1305)ggC>ggT	p.G435G	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	435					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)			GGAGCTGGGGCGGCTGCAGGT	0.672													C|||	1	0.000199681	0	0	5008	,	,		16650	0.001		0	False		,,,				2504	0					ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(1303-1305)ggC>ggT		centrosomal protein 72kDa		C		0,4406		0,0,2203	48	55	53		1305	-4.2	0	5		53	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CEP72	NM_018140.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		435/648	639302	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:639302C>T	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.1305C>T	5.37:g.639302C>T			Somatic				CEP72_ENST00000444221.1_3'UTR	p.G435G	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)		8	1395	+			435					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	37	c.1305C>T	CCDS34126.1																																																																																				0.672	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		13	106	0	0	0	1	0	13	106					T	639302	C	T	639302	2	4	56	1	0	0	0	0	0	0	0	1	3262	755	27	1		1	CEP72	5	639302	Silent	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08		639302	180275958	8	9670										
SNCAIP	9627	broad.mit.edu	37	chr5	121759376	121759376	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	cccagaagaaaggagtgagtAtctgaaaaaagtgaaaagca	11	5	1	5			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:121759376A>C	ENST00000261368.8	+	4	1206	c.944A>C	c.(943-945)tAt>tCt	p.Y315S	SNCAIP_ENST00000503116.2_Missense_Mutation_p.Y362S|SNCAIP_ENST00000379533.2_Missense_Mutation_p.Y362S|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.Y315S|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000261367.7_Missense_Mutation_p.Y362S	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	315					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)		AGGAGTGAGTATCTGAAAAAA	0.448																																						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.(1084-1086)tAt>tCt		synuclein, alpha interacting protein							96	103	101					5																	121759376		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.chr5:121759376A>C	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.944A>C	5.37:g.121759376A>C	ENSP00000261368:p.Tyr315Ser		Somatic				SNCAIP_ENST00000503116.2_Missense_Mutation_p.Y362S|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.Y315S|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.Y315S|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.Y362S	p.Y362S			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)	6	2513	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	315					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.1085A>C	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.510347	0.27036	.	.	ENSG00000064692	ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116	T;T;T;T;T;T	0.11930	5.06;2.77;2.73;5.06;2.73;4.52	5.92	3.51	0.40186	.	0.399027	0.29314	N	0.012517	T	0.07548	0.0190	N	0.08118	0	0.80722	D	1	B;B;P;B	0.39480	0.062;0.041;0.675;0.001	B;B;B;B	0.41988	0.022;0.029;0.372;0.001	T	0.43360	-0.9396	9	.	.	.	-2.371	8.405	0.32610	0.7992:0.1331:0.0676:0.0	.	315;362;362;315	D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	S	315;315;362;315;362;362	ENSP00000422106:Y315S;ENSP00000261368:Y315S;ENSP00000368848:Y362S;ENSP00000368851:Y315S;ENSP00000261367:Y362S;ENSP00000423199:Y362S	.	Y	+	2	0	SNCAIP	121787275	0.973000	0.33851	0.841000	0.33234	0.986000	0.74619	2.592000	0.46171	0.485000	0.27652	0.533000	0.62120	TAT		0.448	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			19	103	0	0	0	1	0	19	103					C	121759376	A	C	121759376	3	2	56	1	0	0	0	0	1	0	0	0	14856	449	16	4	954	4	SNCAIP	5	121759376	Missense_Mutation	SNP	A	TCGA-QM-A5NM-01A-11D-A28R-08	121120074	121759376	59155884	9	9671										
FAT2	2196	broad.mit.edu	37	chr5	150923476	150923476	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	gtgtctctgctgtcagggtcAatagcctggactttaagaac	11	9	3	1			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:150923476A>C	ENST00000261800.5	-	9	7224	c.7212T>G	c.(7210-7212)atT>atG	p.I2404M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2404	Cadherin 21. {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)			TGTCAGGGTCAATAGCCTGGA	0.473																																						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.(7210-7212)atT>atG		FAT atypical cadherin 2							61	55	57					5																	150923476		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.chr5:150923476A>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.7212T>G	5.37:g.150923476A>C	ENSP00000261800:p.Ile2404Met		Somatic					p.I2404M	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	7224	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2404			Cadherin 21.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.7212T>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	4.681	0.126675	0.08931	.	.	ENSG00000086570	ENST00000261800	T	0.52983	0.64	5.58	-6.2	0.02072	Cadherin (4);Cadherin-like (1);	0.448291	0.21108	N	0.080024	T	0.28400	0.0702	L	0.40543	1.245	0.19575	N	0.999961	B	0.25904	0.137	B	0.29716	0.106	T	0.14420	-1.0473	10	0.34782	T	0.22	.	4.7101	0.12868	0.2654:0.4594:0.1901:0.0851	.	2404	Q9NYQ8	FAT2_HUMAN	M	2404	ENSP00000261800:I2404M	ENSP00000261800:I2404M	I	-	3	3	FAT2	150903669	0.877000	0.30153	0.564000	0.28396	0.850000	0.48378	-0.059000	0.11731	-0.541000	0.06257	0.459000	0.35465	ATT		0.473	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		8	42	0	0	0	1	0	8	42					C	150923476	A	C	150923476	3	2	56	1	0	0	0	0	1	0	0	0	5698	126	5	4	5897	4	FAT2	5	150923476	Missense_Mutation	SNP	A	TCGA-QM-A5NM-01A-11D-A28R-08	29164100	150923476	29991784	10	9672										
DOCK2	1794	broad.mit.edu	37	chr5	169267840	169267840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	gacagtcatcaccatgggccGggatcacattctgattgtga	11	10	4	2			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:169267840G>A	ENST00000256935.8	+	27	2863	c.2783G>A	c.(2782-2784)cGg>cAg	p.R928Q	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R420Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	928					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)			ACCATGGGCCGGGATCACATT	0.453																																						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.(2782-2784)cGg>cAg		dedicator of cytokinesis 2							124	107	113					5																	169267840		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.chr5:169267840G>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.2783G>A	5.37:g.169267840G>A	ENSP00000256935:p.Arg928Gln		Somatic				DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R420Q	p.R928Q	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)		27	2863	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	928					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.2783G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350030	0.82132	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T	0.68331	-0.32;-0.32	5.28	5.28	0.74379	.	0.120890	0.56097	D	0.000022	T	0.65481	0.2695	M	0.71036	2.16	0.80722	D	1	P;P	0.52061	0.95;0.67	B;B	0.40864	0.342;0.098	T	0.67597	-0.5630	10	0.30854	T	0.27	.	15.8081	0.78531	0.0:0.0:1.0:0.0	.	420;928	E7ERW7;Q92608	.;DOCK2_HUMAN	Q	928;309;420;132	ENSP00000256935:R928Q;ENSP00000429283:R420Q	ENSP00000256935:R928Q	R	+	2	0	DOCK2	169200418	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	6.268000	0.72552	2.460000	0.83146	0.585000	0.79938	CGG		0.453	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		6	22	0	0	0	1	0	6	22					A	169267840	G	A	169267840	3	1	56	1	0	0	0	0	1	0	0	0	4689	1116	39	1	2889	1	DOCK2	5	169267840	Missense_Mutation	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08	18344364	169267840	11647420	11	9673										
FAM26E	254228	broad.mit.edu	37	chr6	116833169	116833169	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	tctacgtcctcggccagatcActctgagctcattggtggct	10	13	4	2			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr6:116833169A>T	ENST00000368599.3	+	1	361	c.310A>T	c.(310-312)Act>Tct	p.T104S	TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	104					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)		CGGCCAGATCACTCTGAGCTC	0.522																																						ENST00000368599.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(310-312)Act>Tct		family with sequence similarity 26, member E							61	59	60					6																	116833169		2203	4300	6503	SO:0001583	missense	254228					integral to membrane		g.chr6:116833169A>T	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.310A>T	6.37:g.116833169A>T	ENSP00000357588:p.Thr104Ser		Somatic				TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_Intron	p.T104S	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	361	+		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)	104					B2RDJ9|B3KSR3	Missense_Mutation	SNP	ENST00000368599.3	37	c.310A>T	CCDS5108.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692331	0.30052	.	.	ENSG00000178033	ENST00000368599	T	0.18174	2.23	5.5	5.5	0.81552	.	0.316121	0.40302	N	0.001127	T	0.07593	0.0191	L	0.46157	1.445	0.33270	D	0.560941	B	0.23185	0.081	B	0.21360	0.034	T	0.16129	-1.0413	10	0.20519	T	0.43	-9.2385	15.0758	0.72077	1.0:0.0:0.0:0.0	.	104	Q8N5C1	FA26E_HUMAN	S	104	ENSP00000357588:T104S	ENSP00000357588:T104S	T	+	1	0	FAM26E	116939862	0.995000	0.38212	1.000000	0.80357	0.928000	0.56348	2.841000	0.48223	2.211000	0.71520	0.459000	0.35465	ACT		0.522	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041956.1	NM_153711		17	47	0	0	0	1	0	17	47					T	116833169	A	T	116833169	3	4	56	1	0	0	0	0	1	0	0	0	5558	159	6	4	312	4	FAM26E	6	116833169	Missense_Mutation	SNP	A	TCGA-QM-A5NM-01A-11D-A28R-08		116833169	54281898	12	9674										
C6orf174	387104	broad.mit.edu	37	chr6	127797193	127797193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	caggtcggccacgttcctccGcagcagctccgtctcgtctt	10	17	2	0			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr6:127797193G>A	ENST00000525778.1	-	6	2723	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000465909.2_Missense_Mutation_p.R660W|SOGA3_ENST00000556132.1_Missense_Mutation_p.R660W|SOGA3_ENST00000368268.2_Missense_Mutation_p.R660W|SOGA3_ENST00000481848.2_Missense_Mutation_p.R660W			Q5TF21	SOGA3_HUMAN	SOGA family member 3	660					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.R660W(1)									ACGTTCCTCCGCAGCAGCTCC	0.647																																						ENST00000556132.1																			1	Substitution - Missense(1)	p.R660W(1)	lung(1)								c.(1978-1980)Cgg>Tgg		SOGA family member 3							52	57	55					6																	127797193		2186	4288	6474	SO:0001583	missense	387104					integral to membrane		g.chr6:127797193G>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.1978C>T	6.37:g.127797193G>A	ENSP00000434570:p.Arg660Trp		Somatic				SOGA3_ENST00000368268.2_Missense_Mutation_p.R660W|SOGA3_ENST00000465909.2_Missense_Mutation_p.R660W|SOGA3_ENST00000525778.1_Missense_Mutation_p.R660W|SOGA3_ENST00000481848.2_Missense_Mutation_p.R660W	p.R660W	NM_001012279.2	NP_001012279.1	WXS	Illumina GAIIx	Phase_I	Q5TF21	CF174_HUMAN			6	2842	-			660						Missense_Mutation	SNP	ENST00000525778.1	37	c.1978C>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.418939	0.62622	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.55588	0.51;0.51;0.51;0.53	5.22	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.67230	0.2871	M	0.79123	2.44	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.72134	-0.4382	10	0.87932	D	0	-19.8518	14.8169	0.70041	0.0:0.0:0.7809:0.2191	.	660	Q5TF21	CF174_HUMAN	W	660	ENSP00000451768:R660W;ENSP00000357251:R660W;ENSP00000434570:R660W;ENSP00000435559:R660W	ENSP00000435559:R660W	R	-	1	2	C6orf174	127838886	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.244000	0.43124	2.445000	0.82738	0.561000	0.74099	CGG		0.647	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		19	78	0	0	0	1	0	19	78					A	127797193	G	A	127797193	3	1	56	1	0	0	0	0	1	0	0	0	2347	1086	38	1	873	1	C6orf174	6	127797193	Missense_Mutation	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08	10964024	127797193	43317874	13	9675										
KIAA1244	57221	broad.mit.edu	37	chr6	138483289	138483289	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	aagtacaaagccatcaaggaGagctgcacctgggccctggg	13	11	1	1			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr6:138483289G>T	ENST00000251691.4	+	1	232	c.66G>T	c.(64-66)gaG>gaT	p.E22D		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)		CCATCAAGGAGAGCTGCACCT	0.701																																						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.(64-66)gaG>gaT		KIAA1244							39	49	46					6																	138483289		1931	4137	6068	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138483289G>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.66G>T	6.37:g.138483289G>T	ENSP00000251691:p.Glu22Asp		Somatic					p.E22D	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)	1	232	+	Breast(32;0.135)		22						Missense_Mutation	SNP	ENST00000251691.4	37	c.66G>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639418	0.29157	.	.	ENSG00000112379	ENST00000251691	T	0.17854	2.25	4.29	4.29	0.51040	.	.	.	.	.	T	0.02649	0.0080	N	0.08118	0	0.36539	D	0.871188	B	0.06786	0.001	B	0.04013	0.001	T	0.34725	-0.9817	9	0.09338	T	0.73	-15.3812	11.0441	0.47849	0.0:0.0:0.8142:0.1858	.	22	Q5TH69	BIG3_HUMAN	D	22	ENSP00000251691:E22D	ENSP00000251691:E22D	E	+	3	2	KIAA1244	138524982	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.879000	0.39618	1.937000	0.56155	0.455000	0.32223	GAG		0.701	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		23	14	1	0	2.44723e-14	1	2.88304e-14	23	14					T	138483289	G	T	138483289	3	4	56	1	0	0	0	0	1	0	0	0	8226	933	33	2	68	2	KIAA1244	6	138483289	Missense_Mutation	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08	10686096	138483289	32631778	14	9676										
MEOX2	4223	broad.mit.edu	37	chr7	15725735	15725735	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	gagccgcactcggtggggaaGacatctgcgggaggtgccag	18	10	1	1			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:15725735G>C	ENST00000262041.5	-	1	702	c.293C>G	c.(292-294)tCt>tGt	p.S98C	AC005550.5_ENST00000438923.1_lincRNA|AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	98					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)			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)		CGGTGGGGAAGACATCTGCGG	0.667																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	ENST00000262041.5																			0				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.(292-294)tCt>tGt		mesenchyme homeobox 2							19	21	20					7																	15725735		2196	4294	6490	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.chr7:15725735G>C		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.293C>G	7.37:g.15725735G>C	ENSP00000262041:p.Ser98Cys		Somatic					p.S98C	NM_005924.4	NP_005915.2	WXS	Illumina GAIIx	Phase_I	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	1	702	-			98					B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	ENST00000262041.5	37	c.293C>G	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893510	0.52121	.	.	ENSG00000106511	ENST00000262041	D	0.90261	-2.64	5.33	5.33	0.75918	.	0.201411	0.44688	D	0.000428	D	0.88213	0.6376	L	0.36672	1.1	0.48288	D	0.999622	B	0.28512	0.214	B	0.34038	0.174	D	0.85192	0.1010	10	0.37606	T	0.19	-11.1025	19.0242	0.92926	0.0:0.0:1.0:0.0	.	98	P50222	MEOX2_HUMAN	C	98	ENSP00000262041:S98C	ENSP00000262041:S98C	S	-	2	0	MEOX2	15692260	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.707000	0.91367	2.486000	0.83907	0.655000	0.94253	TCT		0.667	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		7	12	0	0	0	1	0	7	12					C	15725735	G	C	15725735	3	2	56	1	0	0	0	0	1	0	0	0	9483	942	33	2	633	2	MEOX2	7	15725735	Missense_Mutation	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08		15725735	143412928	15	9677										
HIP1	3092	broad.mit.edu	37	chr7	75184771	75184771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	ttcttcaagctggttcagggCgtcttgtatcacctgctccg	10	12	5	0	rs138838220	byFrequency	TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:75184771C>T	ENST00000336926.6	-	19	1938	c.1912G>A	c.(1912-1914)Gcc>Acc	p.A638T	HIP1_ENST00000434438.2_Missense_Mutation_p.A638T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	638					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						TGGTTCAGGGCGTCTTGTATC	0.552			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.(1912-1914)Gcc>Acc		huntingtin interacting protein 1		C	THR/ALA	0,4406		0,0,2203	104	84	91		1912	4.6	1	7	dbSNP_134	91	2,8598	2.2+/-6.3	0,2,4298	no	missense	HIP1	NM_005338.5	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	638/1038	75184771	2,13004	2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75184771C>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1912G>A	7.37:g.75184771C>T	ENSP00000336747:p.Ala638Thr		Somatic				HIP1_ENST00000434438.2_Missense_Mutation_p.A638T	p.A638T	NM_005338.5	NP_005329.3	WXS	Illumina GAIIx	Phase_I	O00291	HIP1_HUMAN			19	1938	-			638					B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.1912G>A	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517624	0.64634	0.0	2.33E-4	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.22539	2.28;1.95	5.49	4.6	0.57074	.	0.386381	0.31601	N	0.007376	T	0.21022	0.0506	L	0.55103	1.725	0.39936	D	0.974351	P;B	0.37955	0.612;0.034	B;B	0.35353	0.201;0.014	T	0.04216	-1.0968	10	0.41790	T	0.15	-21.1477	13.3581	0.60640	0.0:0.9217:0.0:0.0783	.	638;638	E7ES17;O00291	.;HIP1_HUMAN	T	638	ENSP00000336747:A638T;ENSP00000410300:A638T	ENSP00000336747:A638T	A	-	1	0	HIP1	75022707	0.982000	0.34865	0.999000	0.59377	0.979000	0.70002	1.021000	0.30040	2.572000	0.86782	0.655000	0.94253	GCC		0.552	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		55	34	0	0	0	1	0	55	34					T	75184771	C	T	75184771	3	4	56	1	0	0	0	0	1	0	0	0	7123	768	27	1	1253	1	HIP1	7	75184771	Missense_Mutation	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08	59459036	75184771	83953892	16	9678										
CHRM2	1129	broad.mit.edu	37	chr7	136699812	136699812	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	ctttttattcagcttggcctGtgctgaccttatcataggtg	9	9	2	1			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:136699812G>C	ENST00000445907.2	+	3	728	c.200G>C	c.(199-201)tGt>tCt	p.C67S	hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.C67S|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.C67S|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.C67S|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.C67S|CHRM2_ENST00000397608.3_Missense_Mutation_p.C67S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	67					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)	AGCTTGGCCTGTGCTGACCTT	0.458																																						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.(199-201)tGt>tCt		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)						226	191	203					7																	136699812		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.chr7:136699812G>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.200G>C	7.37:g.136699812G>C	ENSP00000399745:p.Cys67Ser		Somatic				AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.C67S|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.C67S|CHRM2_ENST00000397608.3_Missense_Mutation_p.C67S|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.C67S|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.C67S|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA	p.C67S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	WXS	Illumina GAIIx	Phase_I	P08172	ACM2_HUMAN			3	728	+			67					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.200G>C	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730030	0.69074	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.44644	0.1303	M	0.70108	2.13	0.80722	D	1	D	0.55800	0.973	P	0.60117	0.869	T	0.22382	-1.0218	10	0.42905	T	0.14	-6.8671	19.2407	0.93881	0.0:0.0:1.0:0.0	.	67	P08172	ACM2_HUMAN	S	67	ENSP00000399745:C67S;ENSP00000415386:C67S;ENSP00000319984:C67S;ENSP00000380733:C67S;ENSP00000384937:C67S;ENSP00000384401:C67S	ENSP00000319984:C67S	C	+	2	0	CHRM2	136350352	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.764000	0.85297	2.546000	0.85860	0.644000	0.83932	TGT		0.458	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			15	184	0	0	0	1	0	15	184					C	136699812	G	C	136699812	3	2	56	1	0	0	0	0	1	0	0	0	3379	1377	48	5	202	5	CHRM2	7	136699812	Missense_Mutation	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08	61515041	136699812	22438851	17	9679										
MGAM	8972	broad.mit.edu	37	chr7	141765178	141765178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	agcgaggggtcgtcatcaccCgctccacatttccctcttct	8	16	4	0			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:141765178C>T	ENST00000549489.2	+	38	4623	c.4528C>T	c.(4528-4530)Cgc>Tgc	p.R1510C	MGAM_ENST00000475668.2_Missense_Mutation_p.R1510C	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1510	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)	CGTCATCACCCGCTCCACATT	0.592																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(4528-4530)Cgc>Tgc		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						51	55	54					7																	141765178		2039	4180	6219	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.chr7:141765178C>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.4528C>T	7.37:g.141765178C>T	ENSP00000447378:p.Arg1510Cys		Somatic				MGAM_ENST00000549489.2_Missense_Mutation_p.R1510C	p.R1510C			WXS	Illumina GAIIx	Phase_I	O43451	MGA_HUMAN			38	4582	+	Melanoma(164;0.0272)		1510			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.4528C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508475	0.64410	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.97066	-4.23	3.97	3.08	0.35506	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.99152	0.9707	H	0.99789	4.78	0.49687	D	0.999811	D	0.89917	1.0	D	0.97110	1.0	D	0.97724	1.0198	9	0.87932	D	0	.	10.3913	0.44171	0.0:0.8989:0.0:0.1011	.	1510	O43451	MGA_HUMAN	C	1510;1510;1387	ENSP00000447378:R1510C	ENSP00000316431:R1387C	R	+	1	0	MGAM	141411647	0.998000	0.40836	0.995000	0.50966	0.928000	0.56348	3.798000	0.55522	0.644000	0.30656	0.306000	0.20318	CGC		0.592	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			3	33	0	0	0	1	0	3	33					T	141765178	C	T	141765178	3	4	56	1	0	0	0	0	1	0	0	0	9550	652	23	1	4674	1	MGAM	7	141765178	Missense_Mutation	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08	5065366	141765178	17373485	18	9680										
KRBA1	84626	broad.mit.edu	37	chr7	149418077	149418077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	gatggagagagagcgagcccCgagggtaagtcagacagtgg	18	7	1	3			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:149418077C>T	ENST00000485033.2	+	3	306	c.306C>T	c.(304-306)ccC>ccT	p.P102P	KRBA1_ENST00000319551.8_Silent_p.P102P|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000255992.10_Silent_p.P102P			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	102										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGCGAGCCCCGAGGGTAAGT	0.617																																						ENST00000255992.10																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(304-306)ccC>ccT		KRAB-A domain containing 1							39	47	44					7																	149418077		2193	4292	6485	SO:0001819	synonymous_variant	84626							g.chr7:149418077C>T	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.306C>T	7.37:g.149418077C>T			Somatic				KRBA1_ENST00000319551.8_Silent_p.P102P|KRBA1_ENST00000485033.2_Silent_p.P102P|KRBA1_ENST00000479560.1_3'UTR	p.P102P	NM_032534.2	NP_115923.2	WXS	Illumina GAIIx	Phase_I	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		4	705	+	Melanoma(164;0.165)|Ovarian(565;0.177)		102					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Silent	SNP	ENST00000485033.2	37	c.306C>T		.	.	.	.	.	.	.	.	.	.	C	1.478	-0.558040	0.03967	.	.	ENSG00000133619	ENST00000467333	.	.	.	4.57	-9.15	0.00698	.	.	.	.	.	.	.	.	.	.	.	0.20764	N	0.999854	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.7671	0.8986	0.01269	0.2497:0.1516:0.1803:0.4184	.	.	.	.	X	13	.	.	R	+	1	2	KRBA1	149049010	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-3.678000	0.00395	-2.701000	0.00398	-0.742000	0.03525	CGA		0.617	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		23	40	0	0	0	1	0	23	40					T	149418077	C	T	149418077	2	4	56	1	0	0	0	0	0	0	0	1	8448	639	23	1		1	KRBA1	7	149418077	Silent	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08	7652899	149418077	9720586	19	9681										
REPIN1	29803	broad.mit.edu	37	chr7	150069555	150069555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	ccttcacctgcgccgagtgcGggaagaacttcggcaagaag	13	12	1	2			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:150069555G>A	ENST00000425389.2	+	1	1303	c.1225G>A	c.(1225-1227)Ggg>Agg	p.G409R	REPIN1_ENST00000444957.1_Missense_Mutation_p.G409R|REPIN1_ENST00000489432.2_Missense_Mutation_p.G466R|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000397281.2_Missense_Mutation_p.G409R|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Missense_Mutation_p.G409R	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	409					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGCCGAGTGCGGGAAGAACTT	0.721																																						ENST00000397281.2																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(1225-1227)Ggg>Agg		replication initiator 1							4	5	5					7																	150069555		1919	4009	5928	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069555G>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"Zinc fingers, C2H2-type"	17922	protein-coding gene	gene with protein product	"replication initiation region protein (60kD)", "zinc finger protein AP4", "zinc finger protein 464 (RIP60)"		"zinc finger protein 464 (RIP60)"	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1225G>A	7.37:g.150069555G>A	ENSP00000388287:p.Gly409Arg		Somatic				REPIN1_ENST00000489432.2_Missense_Mutation_p.G466R|REPIN1_ENST00000425389.2_Missense_Mutation_p.G409R|REPIN1_ENST00000540729.1_Missense_Mutation_p.G409R|REPIN1_ENST00000444957.1_Missense_Mutation_p.G409R|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000479668.1_3'UTR	p.G409R	NM_013400.3	NP_037532.2	WXS	Illumina GAIIx	Phase_I	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1714	+	Ovarian(565;0.183)|Melanoma(164;0.226)		409					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.1225G>A	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906357	0.72868	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	4.39	4.39	0.52855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49729	0.1574	L	0.50847	1.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.48990	-0.8985	9	0.62326	D	0.03	-16.0677	8.1462	0.31113	0.1079:0.0:0.8921:0.0	.	466;409	C9J3L7;Q9BWE0	.;REPI1_HUMAN	R	409;409;409;466;409	ENSP00000445016:G409R;ENSP00000380451:G409R;ENSP00000407714:G409R;ENSP00000417291:G466R;ENSP00000388287:G409R	ENSP00000380451:G409R	G	+	1	0	REPIN1	149700488	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	3.559000	0.53756	2.285000	0.76669	0.462000	0.41574	GGG		0.721	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		3	11	0	0	0	1	0	3	11					A	150069555	G	A	150069555	3	1	56	1	0	0	0	0	1	0	0	0	13242	1116	39	1	1402	1	REPIN1	7	150069555	Missense_Mutation	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08	651478	150069555	9069108	20	9682										
INTS10	55174	broad.mit.edu	37	chr8	19682374	19682374	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	agatacatgaacaactttgaTagtgaagcacatgcaaaata	7	6	0	4			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr8:19682374T>C	ENST00000397977.3	+	8	1295	c.897T>C	c.(895-897)gaT>gaC	p.D299D		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	299					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)		ACAACTTTGATAGTGAAGCAC	0.363																																						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.(895-897)gaT>gaC		integrator complex subunit 10							91	83	85					8																	19682374		1857	4097	5954	SO:0001819	synonymous_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19682374T>C	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.897T>C	8.37:g.19682374T>C			Somatic					p.D299D	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	1295	+			299					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	c.897T>C	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	T	7.190	0.591330	0.13812	.	.	ENSG00000104613	ENST00000523846	.	.	.	5.62	-1.59	0.08453	.	.	.	.	.	T	0.52041	0.1710	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44937	-0.9295	4	.	.	.	-28.1983	7.7393	0.28833	0.1276:0.5278:0.0:0.3446	.	.	.	.	T	75	.	.	I	+	2	0	INTS10	19726654	0.945000	0.32115	0.745000	0.31077	0.833000	0.47200	0.002000	0.13061	-0.210000	0.10140	0.383000	0.25322	ATA		0.363	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		41	20	0	0	0	1	0	41	20					C	19682374	T	C	19682374	2	2	56	1	0	0	0	0	0	0	0	1	7785	1403	49	4		4	INTS10	8	19682374	Silent	SNP	T	TCGA-QM-A5NM-01A-11D-A28R-08		19682374	126681648	21	9683										
EBF2	64641	broad.mit.edu	37	chr8	25720242	25720242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	taccttagctaatctctcagGatctccaggatgcctaggga	9	11	3	0			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr8:25720242G>T	ENST00000520164.1	-	11	1618	c.1081C>A	c.(1081-1083)Cct>Act	p.P361T	EBF2_ENST00000408929.3_Missense_Mutation_p.P213T|EBF2_ENST00000535548.1_Missense_Mutation_p.P92T	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	361					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AATCTCTCAGGATCTCCAGGA	0.418																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1081-1083)Cct>Act		early B-cell factor 2							139	134	135					8																	25720242		1875	4112	5987	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25720242G>T	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1081C>A	8.37:g.25720242G>T	ENSP00000430241:p.Pro361Thr		Somatic				EBF2_ENST00000535548.1_Missense_Mutation_p.P92T|EBF2_ENST00000408929.3_Missense_Mutation_p.P213T	p.P361T	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)	11	1618	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	361					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.1081C>A	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146533	0.77888	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.43688	0.94;0.94;0.94	5.8	5.8	0.92144	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.87900	2.915	0.80722	D	1	D	0.62365	0.991	P	0.57152	0.814	T	0.71768	-0.4493	10	0.62326	D	0.03	.	20.0706	0.97721	0.0:0.0:1.0:0.0	.	361	Q9HAK2	COE2_HUMAN	T	361;213;92	ENSP00000430241:P361T;ENSP00000386178:P213T;ENSP00000437909:P92T	ENSP00000386178:P213T	P	-	1	0	EBF2	25776159	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	9.869000	0.99810	2.744000	0.94065	0.655000	0.94253	CCT		0.418	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		10	67	1	0	0.000442599	1	0.000458597	10	67					T	25720242	G	T	25720242	3	4	56	1	0	0	0	0	1	0	0	0	4883	1174	41	2	670	2	EBF2	8	25720242	Missense_Mutation	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08	6037868	25720242	120643780	22	9684										
GOLGA7	51125	broad.mit.edu	37	chr8	41363429	41363429	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	tgtggtgtttctttctgtcaGgttctgaagaaagtctccaa	10	7	5	2			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr8:41363429G>A	ENST00000357743.4	+	3	465		c.e3-1		GOLGA7_ENST00000518270.1_Splice_Site|GOLGA7_ENST00000520817.1_Splice_Site|GOLGA7_ENST00000521417.1_Splice_Site|GOLGA7_ENST00000405786.2_Splice_Site	NM_001002296.1	NP_001002296.1	Q7Z5G4	GOGA7_HUMAN	golgin A7						Golgi to plasma membrane protein transport (GO:0043001)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)				breast(1)|large_intestine(1)	2	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			CTTTCTGTCAGGTTCTGAAGA	0.438																																						ENST00000357743.4																			0				breast(1)|large_intestine(1)	2						c.e3-1		golgin A7							99	99	99					8																	41363429		2203	4300	6503	SO:0001630	splice_region_variant	51125					Golgi membrane		g.chr8:41363429G>A	AF125102	CCDS34887.1, CCDS55226.1	8p11.21	2011-10-25	2010-02-12		ENSG00000147533	ENSG00000147533			24876	protein-coding gene	gene with protein product		609453	"golgi autoantigen, golgin subfamily a, 7"			11042152	Standard	NM_001174124		Approved	GCP16, HSPC041, GOLGA3AP1, GOLGA7A	uc003xnu.3	Q7Z5G4	OTTHUMG00000164077	ENST00000357743.4:c.265-1G>A	8.37:g.41363429G>A			Somatic				GOLGA7_ENST00000518270.1_Splice_Site|GOLGA7_ENST00000405786.2_Splice_Site|GOLGA7_ENST00000520817.1_Splice_Site|GOLGA7_ENST00000521417.1_Splice_Site		NM_001002296.1	NP_001002296.1	WXS	Illumina GAIIx	Phase_I	Q7Z5G4	GOGA7_HUMAN	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)		3	465	+	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)						D3DSX9|J3KQ24|Q96EQ4|Q9P1S0|Q9Y5U7	Splice_Site	SNP	ENST00000357743.4	37		CCDS34887.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734822	0.30774	.	.	ENSG00000147533	ENST00000518270;ENST00000520817;ENST00000405786;ENST00000357743	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0242	0.89263	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GOLGA7	41482586	1.000000	0.71417	0.997000	0.53966	0.169000	0.22640	9.869000	0.99810	2.481000	0.83766	0.655000	0.94253	.		0.438	GOLGA7-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377142.1	NM_016099	Intron	5	38	0	0	0	1	0	5	38					A	41363429	G	A	41363429	5	1	56	1	0	0	0	0	0	0	1	0	6569	1014	35	3	274	3	GOLGA7	8	41363429	Splice_Site	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08	15643187	41363429	105000593	23	9685										
PTEN	5728	broad.mit.edu	37	chr10	89624275	89624275	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	gcagaaacaaaaggagatatCaagaggatggattcgactta	11	5	1	3	rs587781912		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr10:89624275C>T	ENST00000371953.3	+	1	1406	c.49C>T	c.(49-51)Caa>Taa	p.Q17*	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	17	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.?(13)|p.Q17*(5)|p.Q17del(2)|p.R15fs*23(1)|p.R14fs*26(1)|p.Y16fs*21(1)|p.N12fs*6(1)|p.R14_D22del(1)|p.Y16fs*1(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)		AAGGAGATATCAAGAGGATGG	0.478		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"		63	Whole gene deletion(37)|Unknown(13)|Substitution - Nonsense(5)|Deletion - Frameshift(5)|Deletion - In frame(3)	p.0?(37)|p.?(13)|p.Q17*(5)|p.Q17del(2)|p.R15fs*23(1)|p.R14fs*26(1)|p.Y16fs*21(1)|p.N12fs*6(1)|p.R14_D22del(1)|p.Y16fs*1(1)	prostate(14)|central_nervous_system(13)|endometrium(7)|skin(7)|lung(6)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|breast(3)|bone(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(49-51)Caa>Taa		phosphatase and tensin homolog							183	175	178					10																	89624275		2203	4300	6503	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.chr10:89624275C>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.49C>T	10.37:g.89624275C>T	ENSP00000361021:p.Gln17*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic					p.Q17*	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)	1	1406	+		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)	17			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.49C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	49	15.443228	0.99834	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.05	5.05	0.67936	.	0.062767	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.7659	17.1609	0.86803	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	.	Q	+	1	0	PTEN	89614255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.015000	0.76387	2.335000	0.79485	0.561000	0.74099	CAA		0.478	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		50	60	0	0	0	1	0	50	60					T	89624275	C	T	89624275	4	4	56	1	0	0	0	0	0	1	0	0	12750	827	29	3	51	3	PTEN	10	89624275	Nonsense_Mutation	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08		89624275	45910472	24	9686										
PTEN	5728	broad.mit.edu	37	chr10	89720780	89720780	+	Frame_Shift_Del	DEL	A	A	-													0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	gcagtatagagcgtgcagatAatgacaaggaatatctagta							TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr10:89720780delA	ENST00000371953.3	+	8	2288	c.931delA	c.(931-933)aatfs	p.N311fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	311	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.G165_*404del(1)|p.W274_F341del(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)		GCGTGCAGATAATGACAAGGA	0.348		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(9)|Deletion - In frame(2)|Unknown(2)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(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.(931-933)atfs		phosphatase and tensin homolog							104	102	103					10																	89720780		2203	4299	6502	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.chr10:89720780delA	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.931delA	10.37:g.89720780delA	ENSP00000361021:p.Asn311fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic				PTEN_ENST00000472832.1_3'UTR	p.N311fs	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	2288	+		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)	311			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.931delA	CCDS31238.1																																																																																				0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		33	46						33	46	---	---	---	---	-	89720780	A	-	89720780	7	5	56	1	0	1	0	1	0	0	0	0	12750	362	13	0	961	0	PTEN	10	89720780	Frame_Shift_Del	DEL	A	TCGA-QM-A5NM-01A-11D-A28R-08	96505	89720780	45813967	25	9687										
MUC2	4583	broad.mit.edu	37	chr11	1092954	1092954	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	cccatcaccaccaccactacGgtgaccccaaccccaacacc	3	23	1	1	rs56352686		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr11:1092954G>A	ENST00000359061.5	+	30	4776	c.4776G>A	c.(4774-4776)acG>acA	p.T1592T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000441003.2_Silent_p.T1591T			Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				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)	ccaccactacggtgaccccaa	0.627																																						ENST00000359061.5																			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.e30+1		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						52	85	74					11																	1092954		1812	3296	5108	SO:0001630	splice_region_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1092954G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000359061.5:c.4776+1G>A	11.37:g.1092954G>A			Somatic				MUC2_ENST00000441003.2_Silent_p.T1591T|MUC2_ENST00000361558.6_Intron	p.T1592_splice			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)	30	4776	+		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)	1594			Approximate repeats.		Q14878	Splice_Site	SNP	ENST00000359061.5	37	c.4776_splice																																																																																					0.627	MUC2-202	KNOWN	basic	protein_coding	protein_coding		NM_002457	Silent	3	6	0	0	0	1	0	3	6					A	1092954	G	A	1092954	5	1	56	1	0	0	0	0	0	0	1	0	9984	1103	39	1	4891	1	MUC2	11	1092954	Splice_Site	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08		1092954	133913562	26	9688										
PSMA1	5682	broad.mit.edu	37	chr11	14535162	14535162	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	tccaagtaagtacgagctgaTtgggaacgggctccaatgga	13	8	0	1	rs184210551	byFrequency	TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr11:14535162T>C	ENST00000396394.2	-	7	894	c.498A>G	c.(496-498)caA>caG	p.Q166Q	PSMA1_ENST00000530457.1_Silent_p.Q141Q|PSMA1_ENST00000524606.1_5'Flank|PSMA1_ENST00000396393.1_Silent_p.Q166Q|PSMA1_ENST00000418988.2_Silent_p.Q172Q|PSMA1_ENST00000419365.2_Missense_Mutation_p.N147S|PSMA1_ENST00000555531.1_Missense_Mutation_p.N147S	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	166					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						TACGAGCTGATTGGGAACGGG	0.388													T|||	5	0.000998403	0	0	5008	,	,		13484	0.004		0	False		,,,				2504	0.001					ENST00000555531.1																			0				large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(439-441)aAt>aGt		proteasome (prosome, macropain) subunit, alpha type, 1							67	68	68					11																	14535162		2200	4294	6494	SO:0001819	synonymous_variant	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.chr11:14535162T>C	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"Proteasome (prosome, macropain) subunits"	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.498A>G	11.37:g.14535162T>C			Somatic				PSMA1_ENST00000396394.2_Silent_p.Q166Q|PSMA1_ENST00000418988.2_Silent_p.Q172Q|PSMA1_ENST00000530457.1_Silent_p.Q141Q|PSMA1_ENST00000396393.1_Silent_p.Q166Q|PSMA1_ENST00000419365.2_Missense_Mutation_p.N147S	p.N147S			WXS	Illumina GAIIx	Phase_I	P25786	PSA1_HUMAN			6	484	-			0					A8K400|Q53YE8|Q9BRV9	Missense_Mutation	SNP	ENST00000396394.2	37	c.440A>G	CCDS7816.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	11.89	1.774448	0.31411	.	.	ENSG00000129084	ENST00000419365	T	0.47177	0.85	5.98	-12.0	0.00017	.	.	.	.	.	T	0.22322	0.0538	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.50013	-0.8877	6	0.02654	T	1	-12.7298	19.7619	0.96323	0.0:0.417:0.0:0.583	.	.	.	.	S	147	ENSP00000392242:N147S	ENSP00000392242:N147S	N	-	2	0	PSMA1	14491738	0.007000	0.16637	0.104000	0.21259	0.103000	0.19146	-1.032000	0.03574	-3.010000	0.00273	-1.934000	0.00508	AAT		0.388	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786		32	31	0	0	0	1	0	32	31					C	14535162	T	C	14535162	2	2	56	1	0	0	0	0	0	0	0	1	12678	1490	52	4		4	PSMA1	11	14535162	Silent	SNP	T	TCGA-QM-A5NM-01A-11D-A28R-08	13442208	14535162	120471354	27	9689										
OR5D18	219438	broad.mit.edu	37	chr11	55587891	55587891	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	atcctcttcctttactgtgtGcccaactccaaaaactccag	4	15	1	0			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr11:55587891G>T	ENST00000333976.4	+	1	806	c.786G>T	c.(784-786)gtG>gtT	p.V262V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V262V(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)				TTTACTGTGTGCCCAACTCCA	0.527																																						ENST00000333976.4																			1	Substitution - coding silent(1)	p.V262V(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.(784-786)gtG>gtT		olfactory receptor, family 5, subfamily D, member 18							95	89	91					11																	55587891		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587891G>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.786G>T	11.37:g.55587891G>T			Somatic					p.V262V	NM_001001952.1	NP_001001952.1	WXS	Illumina GAIIx	Phase_I	Q8NGL1	OR5DI_HUMAN			1	806	+		all_epithelial(135;0.208)	262					Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.786G>T	CCDS31510.1																																																																																				0.527	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		32	26	1	0	1.13719e-10	1	1.30398e-10	32	26					T	55587891	G	T	55587891	2	4	56	1	0	0	0	0	0	0	0	1	11166	1306	46	5		5	OR5D18	11	55587891	Silent	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08	41052729	55587891	79418625	28	9690										
GALNT8	26290	broad.mit.edu	37	chr12	4855406	4855406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	ctcatctatggaggagagaaCgtggagcttagcctgagggt	15	7	2	2	rs370114403		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr12:4855406C>T	ENST00000252318.2	+	6	1492	c.1155C>T	c.(1153-1155)aaC>aaT	p.N385N		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	385	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)			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						GAGGAGAGAACGTGGAGCTTA	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.(1153-1155)aaC>aaT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)		C		1,4405	2.1+/-5.4	0,1,2202	176	161	166		1155	-3.2	1	12		166	0,8600		0,0,4300	no	coding-synonymous	GALNT8	NM_017417.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		385/638	4855406	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4855406C>T	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1155C>T	12.37:g.4855406C>T			Somatic					p.N385N	NM_017417.1	NP_059113.1	WXS	Illumina GAIIx	Phase_I	Q9NY28	GALT8_HUMAN			6	1492	+			385			Catalytic subdomain B.		B2RU02	Silent	SNP	ENST00000252318.2	37	c.1155C>T	CCDS8533.1																																																																																				0.498	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		37	56	0	0	0	1	0	37	56					T	4855406	C	T	4855406	2	4	56	1	0	0	0	0	0	0	0	1	6227	535	19	1		1	GALNT8	12	4855406	Silent	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08		4855406	128996489	29	9691										
FGD6	55785	broad.mit.edu	37	chr12	95602757	95602757	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	actcttgagttttccgtataGccataataaatggcaagttc	7	8	1	1			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr12:95602757G>A	ENST00000343958.4	-	2	2526	c.2303C>T	c.(2302-2304)gCt>gTt	p.A768V	FGD6_ENST00000546711.1_Missense_Mutation_p.A768V|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Missense_Mutation_p.A768V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	768					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)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTTCCGTATAGCCATAATAAA	0.443																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2302-2304)gCt>gTt		FYVE, RhoGEF and PH domain containing 6							151	136	141					12																	95602757		2203	4300	6503	SO:0001583	missense	55785				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.chr12:95602757G>A	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2303C>T	12.37:g.95602757G>A	ENSP00000344446:p.Ala768Val		Somatic				FGD6_ENST00000549499.1_Missense_Mutation_p.A768V|FGD6_ENST00000546711.1_Missense_Mutation_p.A768V	p.A768V	NM_018351.3	NP_060821.3	WXS	Illumina GAIIx	Phase_I	Q6ZV73	FGD6_HUMAN			2	2526	-			768					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2303C>T	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	9.263	1.043763	0.19748	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.69040	-0.27;-0.37;-0.29	5.77	4.85	0.62838	.	0.150383	0.31102	N	0.008257	T	0.60301	0.2258	M	0.62723	1.935	0.20403	N	0.999907	B	0.15930	0.015	B	0.12837	0.008	T	0.57329	-0.7830	10	0.62326	D	0.03	-7.1082	6.4212	0.21744	0.1738:0.1621:0.6641:0.0	.	768	Q6ZV73	FGD6_HUMAN	V	768	ENSP00000344446:A768V;ENSP00000450342:A768V;ENSP00000449005:A768V	ENSP00000344446:A768V	A	-	2	0	FGD6	94126888	0.003000	0.15002	0.343000	0.25615	0.452000	0.32318	1.003000	0.29809	1.353000	0.45828	0.561000	0.74099	GCT		0.443	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		15	64	0	0	0	1	0	15	64					A	95602757	G	A	95602757	3	1	56	1	0	0	0	0	1	0	0	0	5845	971	34	3	2069	3	FGD6	12	95602757	Missense_Mutation	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08	90747351	95602757	38249138	30	9692										
ANKRD13A	88455	broad.mit.edu	37	chr12	110454197	110454197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	tttgtctgcccttcaggctcCggatttctatgtgcagatga	10	10	3	2			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr12:110454197C>T	ENST00000261739.4	+	4	525	c.359C>T	c.(358-360)cCg>cTg	p.P120L	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	120						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CTTCAGGCTCCGGATTTCTAT	0.433																																						ENST00000261739.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						c.(358-360)cCg>cTg		ankyrin repeat domain 13A							130	130	130					12																	110454197		2203	4300	6503	SO:0001583	missense	88455							g.chr12:110454197C>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.359C>T	12.37:g.110454197C>T	ENSP00000261739:p.Pro120Leu		Somatic				ANKRD13A_ENST00000550404.1_3'UTR	p.P120L	NM_033121.1	NP_149112.1	WXS	Illumina GAIIx	Phase_I	Q8IZ07	AN13A_HUMAN			4	525	+			120					O60736	Missense_Mutation	SNP	ENST00000261739.4	37	c.359C>T	CCDS9140.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076089	0.94000	.	.	ENSG00000076513	ENST00000261739	T	0.59364	0.27	5.6	5.6	0.85130	.	0.050747	0.85682	D	0.000000	T	0.73194	0.3556	M	0.83223	2.63	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.53760	0.669;0.734;0.734	T	0.76969	-0.2762	10	0.56958	D	0.05	-0.2834	18.5973	0.91234	0.0:1.0:0.0:0.0	.	120;120;120	B4DYP5;Q3ZTS7;Q8IZ07	.;.;AN13A_HUMAN	L	120	ENSP00000261739:P120L	ENSP00000261739:P120L	P	+	2	0	ANKRD13A	108938580	1.000000	0.71417	0.981000	0.43875	0.984000	0.73092	5.823000	0.69272	2.650000	0.89964	0.655000	0.94253	CCG		0.433	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121		38	18	0	0	0	1	0	38	18					T	110454197	C	T	110454197	3	4	56	1	0	0	0	0	1	0	0	0	641	652	23	1	373	1	ANKRD13A	12	110454197	Missense_Mutation	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08	14851440	110454197	23397698	31	9693										
FKBP3	2287	broad.mit.edu	37	chr14	45590702	45590702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	acttacttgtttgaatattaGtatcaaaaacagtcccatct	4	8	2	1			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr14:45590702G>A	ENST00000216330.3	-	5	850	c.440C>T	c.(439-441)aCt>aTt	p.T147I	FKBP3_ENST00000396062.3_Missense_Mutation_p.T147I			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	147	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						TTGAATATTAGTATCAAAAAC	0.363																																						ENST00000216330.3																			0				NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(439-441)aCt>aTt		FK506 binding protein 3, 25kDa							89	79	82					14																	45590702		2202	4298	6500	SO:0001583	missense	2287				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity	g.chr14:45590702G>A	M96256	CCDS9683.1	14q21.2	2008-08-11	2002-08-29		ENSG00000100442	ENSG00000100442			3719	protein-coding gene	gene with protein product		186947	"FK506-binding protein 3 (25kD)"			1374240, 1532945	Standard	NM_002013		Approved	FKBP-25, PPIase	uc010tqf.2	Q00688	OTTHUMG00000140267	ENST00000216330.3:c.440C>T	14.37:g.45590702G>A	ENSP00000216330:p.Thr147Ile		Somatic				FKBP3_ENST00000396062.3_Missense_Mutation_p.T147I	p.T147I			WXS	Illumina GAIIx	Phase_I	Q00688	FKBP3_HUMAN			5	850	-			147			PPIase FKBP-type.		B2R4Q9|Q14317	Missense_Mutation	SNP	ENST00000216330.3	37	c.440C>T	CCDS9683.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570587	0.86542	.	.	ENSG00000100442	ENST00000216330;ENST00000396062	T;T	0.56103	0.48;0.48	6.16	6.16	0.99307	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.047041	0.85682	D	0.000000	T	0.75517	0.3860	H	0.96691	3.865	0.58432	D	0.999998	D	0.54207	0.965	P	0.49708	0.62	D	0.83773	0.0221	10	0.87932	D	0	-2.6848	16.6929	0.85326	0.0:0.1294:0.8706:0.0	.	147	Q00688	FKBP3_HUMAN	I	147	ENSP00000216330:T147I;ENSP00000379374:T147I	ENSP00000216330:T147I	T	-	2	0	FKBP3	44660452	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.544000	0.82117	2.937000	0.99478	0.650000	0.86243	ACT		0.363	FKBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276796.1	NM_002013		5	35	0	0	0	1	0	5	35					A	45590702	G	A	45590702	3	1	56	1	0	0	0	0	1	0	0	0	5917	1029	36	3	250	3	FKBP3	14	45590702	Missense_Mutation	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08		45590702	61758838	32	9694										
NID2	22795	broad.mit.edu	37	chr14	52520497	52520497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	tttcggggtacggtggtgggGtttcccaggaaggagccagt	18	7	0	0			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr14:52520497G>A	ENST00000216286.5	-	5	1228	c.1229C>T	c.(1228-1230)aCc>aTc	p.T410I	NID2_ENST00000541773.1_Missense_Mutation_p.T357I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	410					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)					CGGTGGTGGGGTTTCCCAGGA	0.557																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(1228-1230)aCc>aTc		nidogen 2 (osteonidogen)							105	93	97					14																	52520497		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52520497G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1229C>T	14.37:g.52520497G>A	ENSP00000216286:p.Thr410Ile		Somatic				NID2_ENST00000541773.1_Missense_Mutation_p.T357I	p.T410I	NM_007361.3	NP_031387.3	WXS	Illumina GAIIx	Phase_I	Q14112	NID2_HUMAN			5	1228	-	Breast(41;0.0639)|all_epithelial(31;0.123)		410					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.1229C>T	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	6.781	0.513120	0.12944	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.83419	-1.72;-1.61	5.55	-2.21	0.06973	.	1.203870	0.05542	N	0.565900	T	0.62720	0.2451	N	0.14661	0.345	0.09310	N	1	B;B;B	0.27971	0.034;0.196;0.013	B;B;B	0.19148	0.009;0.024;0.006	T	0.44390	-0.9331	10	0.22109	T	0.4	.	2.2016	0.03925	0.2909:0.3664:0.2294:0.1134	.	357;412;410	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	I	410;357;412	ENSP00000216286:T410I;ENSP00000443730:T357I	ENSP00000216286:T410I	T	-	2	0	NID2	51590247	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.262000	0.08682	-0.873000	0.04032	-0.140000	0.14226	ACC		0.557	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			39	53	0	0	0	1	0	39	53					A	52520497	G	A	52520497	3	1	56	1	0	0	0	0	1	0	0	0	10424	1261	44	3	2970	3	NID2	14	52520497	Missense_Mutation	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08	6929795	52520497	54829043	33	9695										
SIX4	51804	broad.mit.edu	37	chr14	61180412	61180412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	ttcagctgtaggaactatttCcccaagggcagcctgagtca	10	11	2	1			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr14:61180412C>T	ENST00000216513.4	-	3	2118	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	687					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GGAACTATTTCCCCAAGGGCA	0.473																																						ENST00000216513.4																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2059-2061)Gaa>Aaa		SIX homeobox 4							92	83	86					14																	61180412		2203	4300	6503	SO:0001583	missense	51804					nucleus		g.chr14:61180412C>T	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"Homeoboxes / SINE class"	10890	protein-coding gene	gene with protein product		606342	"sine oculis homeobox (Drosophila) homolog 4", "sine oculis homeobox homolog 4 (Drosophila)"			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.2059G>A	14.37:g.61180412C>T	ENSP00000216513:p.Glu687Lys		Somatic					p.E687K	NM_017420.4	NP_059116.3	WXS	Illumina GAIIx	Phase_I	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	3	2118	-			687					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.2059G>A	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466418	0.63625	.	.	ENSG00000100625	ENST00000216513;ENST00000554079	D;T	0.91295	-2.82;0.8	5.76	5.76	0.90799	.	0.074981	0.48767	D	0.000175	D	0.83695	0.5310	N	0.14661	0.345	0.80722	D	1	P	0.42827	0.791	B	0.35859	0.212	D	0.85936	0.1455	10	0.66056	D	0.02	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	687	Q9UIU6	SIX4_HUMAN	K	687;360	ENSP00000216513:E687K;ENSP00000451537:E360K	ENSP00000216513:E687K	E	-	1	0	SIX4	60250165	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.317000	0.65822	2.882000	0.98803	0.655000	0.94253	GAA		0.473	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			22	13	0	0	0	1	0	22	13					T	61180412	C	T	61180412	3	4	56	1	0	0	0	0	1	0	0	0	14364	864	30	3	290	3	SIX4	14	61180412	Missense_Mutation	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08	8659915	61180412	46169128	34	9696										
FSD2	123722	broad.mit.edu	37	chr15	83455920	83455920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	ttcaagtccatataagtggaCaagttcatccacttcctctt	5	11	3	0			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr15:83455920C>T	ENST00000334574.8	-	2	404	c.223G>A	c.(223-225)Gtc>Atc	p.V75I	FSD2_ENST00000541889.1_Missense_Mutation_p.V75I			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	75										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TATAAGTGGACAAGTTCATCC	0.423																																						ENST00000334574.8																			0				breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						c.(223-225)Gtc>Atc		fibronectin type III and SPRY domain containing 2							163	161	162					15																	83455920		1987	4157	6144	SO:0001583	missense	123722							g.chr15:83455920C>T	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"Fibronectin type III domain containing"	18024	protein-coding gene	gene with protein product			"SPRY domain containing 1"	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.223G>A	15.37:g.83455920C>T	ENSP00000335651:p.Val75Ile		Somatic				FSD2_ENST00000541889.1_Missense_Mutation_p.V75I	p.V75I			WXS	Illumina GAIIx	Phase_I	A1L4K1	FSD2_HUMAN			2	404	-			75					B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.223G>A	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727865	0.48833	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.46451	0.87;0.87	4.54	4.54	0.55810	.	0.229087	0.22341	N	0.061336	T	0.32941	0.0846	L	0.36672	1.1	0.09310	N	1	B;B	0.31625	0.039;0.332	B;B	0.29862	0.037;0.108	T	0.13229	-1.0517	10	0.15066	T	0.55	-8.0785	16.4643	0.84073	0.0:1.0:0.0:0.0	.	75;75	B7ZM02;A1L4K1	.;FSD2_HUMAN	I	75	ENSP00000335651:V75I;ENSP00000444078:V75I	ENSP00000335651:V75I	V	-	1	0	FSD2	81252974	0.466000	0.25823	0.042000	0.18584	0.990000	0.78478	1.906000	0.39887	2.354000	0.79902	0.655000	0.94253	GTC		0.423	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		14	75	0	0	0	1	0	14	75					T	83455920	C	T	83455920	3	4	56	1	0	0	0	0	1	0	0	0	6079	478	17	3	2074	3	FSD2	15	83455920	Missense_Mutation	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08		83455920	19075472	35	9697										
PLK1	5347	broad.mit.edu	37	chr16	23700935	23700935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	cctacctacggacctggttcCgcacccgcagcgccatcatc	8	19	1	0			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr16:23700935C>T	ENST00000300093.4	+	9	1657	c.1546C>T	c.(1546-1548)Cgc>Tgc	p.R516C	CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	516	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				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)		GACCTGGTTCCGCACCCGCAG	0.632																																					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.(1546-1548)Cgc>Tgc		polo-like kinase 1							33	33	33					16																	23700935		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.chr16:23700935C>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.1546C>T	16.37:g.23700935C>T	ENSP00000300093:p.Arg516Cys		Somatic					p.R516C	NM_005030.3	NP_005021.2	WXS	Illumina GAIIx	Phase_I	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	9	1657	+			516			POLO box 2.		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.1546C>T	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319559	0.81469	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.38722	1.12	5.26	5.26	0.73747	POLO box duplicated domain (2);	0.048955	0.85682	D	0.000000	T	0.72020	0.3409	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79237	-0.1886	10	0.87932	D	0	-14.3743	11.4659	0.50239	0.1797:0.8202:0.0:0.0	.	516	P53350	PLK1_HUMAN	C	516;419	ENSP00000300093:R516C	ENSP00000300093:R516C	R	+	1	0	PLK1	23608436	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.593000	0.46180	2.466000	0.83321	0.557000	0.71058	CGC		0.632	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		21	29	0	0	0	1	0	21	29					T	23700935	C	T	23700935	3	4	56	1	0	0	0	0	1	0	0	0	12103	652	23	1	1580	1	PLK1	16	23700935	Missense_Mutation	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08		23700935	66653818	36	9698										
XPO6	23214	broad.mit.edu	37	chr16	28118920	28118920	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	gcgactggtagcaaatctgtCgagacttggtggactccccc	12	12	1	1			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr16:28118920C>G	ENST00000304658.5	-	18	2920	c.2420G>C	c.(2419-2421)cGa>cCa	p.R807P	XPO6_ENST00000565698.1_Missense_Mutation_p.R793P	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	807					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GCAAATCTGTCGAGACTTGGT	0.512																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(2419-2421)cGa>cCa		exportin 6							92	94	93					16																	28118920		1872	4118	5990	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28118920C>G	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.2420G>C	16.37:g.28118920C>G	ENSP00000302790:p.Arg807Pro		Somatic				XPO6_ENST00000565698.1_Missense_Mutation_p.R793P	p.R807P	NM_015171.2	NP_055986.1	WXS	Illumina GAIIx	Phase_I	Q96QU8	XPO6_HUMAN			18	2920	-			807					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.2420G>C	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926952	0.92319	.	.	ENSG00000169180	ENST00000304658	T	0.55588	0.51	5.51	4.54	0.55810	Armadillo-like helical (1);Armadillo-type fold (1);	0.062472	0.64402	D	0.000003	T	0.65893	0.2735	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.995	D;P	0.64506	0.926;0.795	T	0.67688	-0.5606	10	0.54805	T	0.06	-8.2344	13.2676	0.60144	0.16:0.84:0.0:0.0	.	807;807	B7ZM10;Q96QU8	.;XPO6_HUMAN	P	807	ENSP00000302790:R807P	ENSP00000302790:R807P	R	-	2	0	XPO6	28026421	1.000000	0.71417	0.907000	0.35723	0.997000	0.91878	6.048000	0.71046	1.287000	0.44583	0.655000	0.94253	CGA		0.512	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		17	86	0	0	0	1	0	17	86					G	28118920	C	G	28118920	3	3	56	1	0	0	0	0	1	0	0	0	17463	884	31	2	985	2	XPO6	16	28118920	Missense_Mutation	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08	4417985	28118920	62235833	37	9699										
PRPF8	10594	broad.mit.edu	37	chr17	1563731	1563731	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	tcgattccagcccacctgacAtaagtccataacaatgctct	5	14	1	1			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr17:1563731A>G	ENST00000572621.1	-	29	5045	c.4780T>C	c.(4780-4782)Tgt>Cgt	p.C1594R	PRPF8_ENST00000304992.6_Missense_Mutation_p.C1594R			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1594	Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCCACCTGACATAAGTCCATA	0.522																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4780-4782)Tgt>Cgt		pre-mRNA processing factor 8							348	357	354					17																	1563731		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1563731A>G	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.4780T>C	17.37:g.1563731A>G	ENSP00000460348:p.Cys1594Arg		Somatic				PRPF8_ENST00000304992.6_Missense_Mutation_p.C1594R	p.C1594R			WXS	Illumina GAIIx	Phase_I	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	29	5045	-			1594					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.4780T>C	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	a	11.73	1.727161	0.30593	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.81499	-1.5	5.95	5.95	0.96441	Pre-mRNA-processing-splicing factor 8, U6-snRNA-binding (1);	0.039639	0.85682	D	0.000000	D	0.90202	0.6937	M	0.85099	2.735	0.80722	D	1	D	0.54397	0.966	D	0.65140	0.932	D	0.91493	0.5213	10	0.72032	D	0.01	-27.9396	16.4159	0.83738	1.0:0.0:0.0:0.0	.	1594	Q6P2Q9	PRP8_HUMAN	R	1594;121	ENSP00000304350:C1594R	ENSP00000304350:C1594R	C	-	1	0	PRPF8	1510481	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	9.210000	0.95106	2.279000	0.76181	0.533000	0.62120	TGT		0.522	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			380	26	0	0	0	1	0	380	26					G	1563731	A	G	1563731	3	3	56	1	0	0	0	0	1	0	0	0	12587	217	8	4	2283	4	PRPF8	17	1563731	Missense_Mutation	SNP	A	TCGA-QM-A5NM-01A-11D-A28R-08		1563731	79631479	38	9700										
TP53	7157	broad.mit.edu	37	chr17	7577557	7577557	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	ccggttcatgccgcccatgcAggaactgttacacatgtagt	10	12	1	0	rs397516437		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr17:7577557A>T	ENST00000269305.4	-	7	913	c.724T>A	c.(724-726)Tgc>Agc	p.C242S	TP53_ENST00000413465.2_Missense_Mutation_p.C242S|TP53_ENST00000445888.2_Missense_Mutation_p.C242S|TP53_ENST00000359597.4_Missense_Mutation_p.C242S|TP53_ENST00000420246.2_Missense_Mutation_p.C242S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C242S	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	242	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|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 a familial cancer not matching 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.C242R(12)|p.C242S(10)|p.0?(8)|p.?(5)|p.N239_C242delNSSC(3)|p.C242G(2)|p.S241del(2)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.C242fs*5(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	CCGCCCATGCAGGAACTGTTA	0.577		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"		55	Substitution - Missense(24)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - deletion inframe(1)	p.C242R(12)|p.C242S(10)|p.0?(8)|p.?(5)|p.N239_C242delNSSC(3)|p.C242G(2)|p.S241del(2)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.C242fs*5(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	breast(8)|large_intestine(7)|biliary_tract(5)|upper_aerodigestive_tract(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|ovary(3)|pancreas(3)|prostate(3)|stomach(2)|oesophagus(2)|lung(2)|urinary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(724-726)Tgc>Agc	Other conserved DNA damage response genes	tumor protein p53							138	106	117					17																	7577557		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.chr17:7577557A>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.724T>A	17.37:g.7577557A>T	ENSP00000269305:p.Cys242Ser	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.C242S|TP53_ENST00000413465.2_Missense_Mutation_p.C242S|TP53_ENST00000269305.4_Missense_Mutation_p.C242S|TP53_ENST00000359597.4_Missense_Mutation_p.C242S|TP53_ENST00000445888.2_Missense_Mutation_p.C242S	p.C242S	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	856	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	242		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 a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.724T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.639501	0.87760	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99914	-7.98;-7.98;-7.98;-7.98;-7.98;-7.98;-7.98;-7.98	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99924	0.9965	M	0.92784	3.345	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;0.999	D	0.95737	0.8780	10	0.87932	D	0	-27.558	12.3101	0.54924	1.0:0.0:0.0:0.0	.	242;242;149;242;242;242	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	242;242;242;242;242;242;231;149;110;149	ENSP00000410739:C242S;ENSP00000352610:C242S;ENSP00000269305:C242S;ENSP00000398846:C242S;ENSP00000391127:C242S;ENSP00000391478:C242S;ENSP00000425104:C110S;ENSP00000423862:C149S	ENSP00000269305:C242S	C	-	1	0	TP53	7518282	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	TGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	2	0	0	0	1	0	33	2					T	7577557	A	T	7577557	3	4	56	1	0	0	0	0	1	0	0	0	16396	188	7	4	566	4	TP53	17	7577557	Missense_Mutation	SNP	A	TCGA-QM-A5NM-01A-11D-A28R-08	6013826	7577557	73617653	39	9701										
JUP	3728	broad.mit.edu	37	chr17	39914009	39914009	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	caccccggcagccacgcgctGgatgttctccaccgacgagt	11	17	1	0			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr17:39914009G>C	ENST00000393931.3	-	11	1919	c.1801C>G	c.(1801-1803)Cag>Gag	p.Q601E	JUP_ENST00000393930.1_Missense_Mutation_p.Q601E|JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.Q601E	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	601	Interaction with DSC1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCCACGCGCTGGATGTTCTCC	0.667																																					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.(1801-1803)Cag>Gag		junction plakoglobin							25	25	25					17																	39914009		2203	4298	6501	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.chr17:39914009G>C	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.1801C>G	17.37:g.39914009G>C	ENSP00000377508:p.Gln601Glu		Somatic				JUP_ENST00000310706.5_Missense_Mutation_p.Q601E|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.Q601E	p.Q601E	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)	11	1919	-		Breast(137;0.000162)	601					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.1801C>G	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489799	0.44249	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.74106	-0.81;-0.81;-0.81	4.83	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.052290	0.85682	D	0.000000	T	0.73024	0.3534	L	0.58510	1.815	0.80722	D	1	B	0.27380	0.177	B	0.28849	0.095	T	0.73754	-0.3883	10	0.59425	D	0.04	-27.2952	17.0881	0.86616	0.0:0.0:1.0:0.0	.	601	P14923	PLAK_HUMAN	E	601	ENSP00000377507:Q601E;ENSP00000311113:Q601E;ENSP00000377508:Q601E	ENSP00000311113:Q601E	Q	-	1	0	JUP	37167535	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	3.833000	0.55790	2.518000	0.84900	0.561000	0.74099	CAG		0.667	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			38	0	0	0	0	1	0	38	0					C	39914009	G	C	39914009	3	2	56	1	0	0	0	0	1	0	0	0	7981	1357	47	5	452	5	JUP	17	39914009	Missense_Mutation	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08	32336452	39914009	41281201	40	9702										
SERPINB7	8710	broad.mit.edu	37	chr18	61449729	61449729	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	ctcttcgctgccctggccctGgtccgcttgggcgctcaaga	12	16	2	1			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr18:61449729G>T	ENST00000398019.2	+	2	448	c.123G>T	c.(121-123)ctG>ctT	p.L41L	SERPINB7_ENST00000540675.1_Silent_p.L41L|SERPINB7_ENST00000546027.1_Silent_p.L41L|SERPINB7_ENST00000336429.2_Silent_p.L41L	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	41					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)				CCCTGGCCCTGGTCCGCTTGG	0.473																																						ENST00000398019.2																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(121-123)ctG>ctT		serpin peptidase inhibitor, clade B (ovalbumin), member 7							112	94	100					18																	61449729		2203	4300	6503	SO:0001819	synonymous_variant	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61449729G>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.123G>T	18.37:g.61449729G>T			Somatic				SERPINB7_ENST00000336429.2_Silent_p.L41L|SERPINB7_ENST00000546027.1_Silent_p.L41L|SERPINB7_ENST00000540675.1_Silent_p.L41L	p.L41L	NM_003784.3	NP_003775.1	WXS	Illumina GAIIx	Phase_I	O75635	SPB7_HUMAN			2	448	+		Esophageal squamous(42;0.129)	41					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Silent	SNP	ENST00000398019.2	37	c.123G>T	CCDS11988.1																																																																																				0.473	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		19	68	1	0	1.67942e-08	1	1.87571e-08	19	68					T	61449729	G	T	61449729	2	4	56	1	0	0	0	0	0	0	0	1	14121	1335	47	5		5	SERPINB7	18	61449729	Silent	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08		61449729	16627519	41	9703										
FBN3	84467	broad.mit.edu	37	chr19	8196507	8196507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	cggattggcacagcagcactCggacttggtgacagtgccag	14	11	0	1			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:8196507C>T	ENST00000600128.1	-	15	2335	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	FBN3_ENST00000270509.2_Missense_Mutation_p.E641K|FBN3_ENST00000601739.1_Missense_Mutation_p.E641K			Q75N90	FBN3_HUMAN	fibrillin 3	641	TB 3.					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						CAGCAGCACTCGGACTTGGTG	0.667																																						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.(1921-1923)Gag>Aag		fibrillin 3							58	59	58					19																	8196507		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8196507C>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.1921G>A	19.37:g.8196507C>T	ENSP00000470498:p.Glu641Lys		Somatic				FBN3_ENST00000601739.1_Missense_Mutation_p.E641K|FBN3_ENST00000270509.2_Missense_Mutation_p.E641K	p.E641K			WXS	Illumina GAIIx	Phase_I	Q75N90	FBN3_HUMAN			15	2335	-			641			TB 3.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1921G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	15.70	2.911595	0.52439	.	.	ENSG00000142449	ENST00000270509	D	0.94046	-3.34	3.02	3.02	0.34903	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	U	0.000000	D	0.94192	0.8136	M	0.77616	2.38	0.47065	D	0.9993	D	0.63880	0.993	P	0.54210	0.745	D	0.92511	0.6016	10	0.14656	T	0.56	.	13.9673	0.64216	0.0:1.0:0.0:0.0	.	641	Q75N90	FBN3_HUMAN	K	641	ENSP00000270509:E641K	ENSP00000270509:E641K	E	-	1	0	FBN3	8102507	1.000000	0.71417	0.916000	0.36221	0.038000	0.13279	4.871000	0.63042	1.227000	0.43598	0.185000	0.17295	GAG		0.667	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		40	45	0	0	0	1	0	40	45					T	8196507	C	T	8196507	3	4	56	1	0	0	0	0	1	0	0	0	5712	893	31	1	6708	1	FBN3	19	8196507	Missense_Mutation	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08		8196507	50932476	42	9704										
MARCH2	51257	broad.mit.edu	37	chr19	8486873	8486873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	ggatggccggctcctctccaCcgtcatccgtgccttggaca	11	16	2	0			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:8486873C>T	ENST00000602117.1	+	2	604	c.149C>T	c.(148-150)aCc>aTc	p.T50I	MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000393944.1_Missense_Mutation_p.T50I|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000215555.2_Missense_Mutation_p.T50I|MARCH2_ENST00000381035.4_Missense_Mutation_p.T50I			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	50					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CTCCTCTCCACCGTCATCCGT	0.627																																						ENST00000602117.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						c.(148-150)aCc>aTc		membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase							89	71	77					19																	8486873		2203	4300	6503	SO:0001583	missense	51257				endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr19:8486873C>T	AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	28038	protein-coding gene	gene with protein product		613332	"membrane-associated ring finger (C3HC4) 2"			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.149C>T	19.37:g.8486873C>T	ENSP00000471536:p.Thr50Ile		Somatic				MARCH2_ENST00000393944.1_Missense_Mutation_p.T50I|MARCH2_ENST00000381035.4_Missense_Mutation_p.T50I|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.T50I	p.T50I			WXS	Illumina GAIIx	Phase_I	Q9P0N8	MARH2_HUMAN			2	604	+			50					A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	ENST00000602117.1	37	c.149C>T	CCDS12202.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315695	0.81469	.	.	ENSG00000099785	ENST00000393944;ENST00000215555;ENST00000381035	T;T;T	0.17691	2.26;2.26;2.26	5.65	4.58	0.56647	.	0.104666	0.64402	D	0.000005	T	0.30541	0.0768	M	0.64997	1.995	0.53688	D	0.999974	P;D	0.57899	0.741;0.981	B;P	0.52109	0.2;0.69	T	0.08806	-1.0704	10	0.87932	D	0	-14.2707	15.0401	0.71785	0.0:0.857:0.143:0.0	.	50;50	Q9P0N8-2;Q9P0N8	.;MARH2_HUMAN	I	50	ENSP00000377518:T50I;ENSP00000215555:T50I;ENSP00000370423:T50I	ENSP00000215555:T50I	T	+	2	0	MARCH2	8392873	1.000000	0.71417	0.238000	0.24106	0.955000	0.61496	5.734000	0.68580	1.334000	0.45468	0.555000	0.69702	ACC		0.627	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	NM_016496		19	54	0	0	0	1	0	19	54					T	8486873	C	T	8486873	3	4	56	1	0	0	0	0	1	0	0	0	9310	507	18	3	151	3	MARCH2	19	8486873	Missense_Mutation	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08	290366	8486873	50642110	43	9705										
CACNA1A	773	broad.mit.edu	37	chr19	13409679	13409679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	ggtgggggtccccggccttgCctcgctcggcctcgccctcc	14	19	0	0			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:13409679C>T	ENST00000360228.5	-	19	2767	c.2768G>A	c.(2767-2769)gGc>gAc	p.G923D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G924D	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	924					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)	CCCGGCCTTGCCTCGCTCGGC	0.771																																						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.(2767-2769)gGc>gAc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						7	8	8					19																	13409679		1748	3761	5509	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.chr19:13409679C>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.2768G>A	19.37:g.13409679C>T	ENSP00000353362:p.Gly923Asp		Somatic				CACNA1A_ENST00000573710.2_Missense_Mutation_p.G924D	p.G923D	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)		19	2767	-			924					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.2768G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	2.151	-0.394585	0.04899	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95482	-3.72	3.79	-3.19	0.05171	.	6.335020	0.00424	N	0.000070	D	0.87931	0.6302	N	0.14661	0.345	0.09310	N	1	B;B;B	0.17038	0.02;0.002;0.02	B;B;B	0.19148	0.016;0.003;0.024	T	0.81433	-0.0935	10	0.13108	T	0.6	.	4.7362	0.12989	0.1151:0.3606:0.4242:0.1002	.	924;927;923	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	D	923;927;924;924	ENSP00000353362:G923D	ENSP00000317661:G924D	G	-	2	0	CACNA1A	13270679	0.006000	0.16342	0.551000	0.28230	0.114000	0.19823	-0.525000	0.06214	-0.232000	0.09811	0.462000	0.41574	GGC		0.771	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		10	5	0	0	0	1	0	10	5					T	13409679	C	T	13409679	3	4	56	1	0	0	0	0	1	0	0	0	2540	739	26	3	4970	3	CACNA1A	19	13409679	Missense_Mutation	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08	4922806	13409679	45719304	44	9706										
SLC25A42	284439	broad.mit.edu	37	chr19	19216533	19216533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	cagctactatggcttccgtgGagagtgaggccccgccccgc	13	15	0	2			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:19216533G>A	ENST00000318596.7	+	5	528	c.377G>A	c.(376-378)gGa>gAa	p.G126E	SLC25A42_ENST00000600275.1_Intron	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	126					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)			GGCTTCCGTGGAGAGTGAGgc	0.672																																						ENST00000318596.7																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(376-378)gGa>gAa		solute carrier family 25, member 42							23	15	18					19																	19216533		2194	4270	6464	SO:0001583	missense	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19216533G>A		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.377G>A	19.37:g.19216533G>A	ENSP00000326693:p.Gly126Glu		Somatic				SLC25A42_ENST00000600275.1_Intron	p.G126E	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)		5	528	+			126					D2T2J5|O14553|O43378	Missense_Mutation	SNP	ENST00000318596.7	37	c.377G>A	CCDS32966.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062649	0.55432	.	.	ENSG00000181035	ENST00000318596	T	0.78481	-1.18	4.31	4.31	0.51392	Mitochondrial carrier domain (2);DNA mismatch repair, conserved site (1);	0.054660	0.64402	D	0.000001	T	0.64148	0.2572	L	0.33339	1.005	0.80722	D	1	P;B	0.35272	0.493;0.017	B;B	0.26202	0.067;0.018	T	0.63382	-0.6650	10	0.17832	T	0.49	-3.9503	15.707	0.77592	0.0:0.0:1.0:0.0	.	178;126	B7Z8R5;Q86VD7	.;S2542_HUMAN	E	126	ENSP00000326693:G126E	ENSP00000326693:G126E	G	+	2	0	SLC25A42	19077533	1.000000	0.71417	0.989000	0.46669	0.762000	0.43233	5.871000	0.69628	2.110000	0.64415	0.462000	0.41574	GGA		0.672	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		4	5	0	0	0	1	0	4	5					A	19216533	G	A	19216533	3	1	56	1	0	0	0	0	1	0	0	0	14522	1174	41	3	391	3	SLC25A42	19	19216533	Missense_Mutation	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08	5806854	19216533	39912450	45	9707										
CHST8	64377	broad.mit.edu	37	chr19	34263305	34263305	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	cccaaggccggctgctccaaTtggaagcgggtgctcatggt	14	12	1	0			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:34263305T>C	ENST00000262622.4	+	4	1370	c.612T>C	c.(610-612)aaT>aaC	p.N204N	CHST8_ENST00000438847.3_Silent_p.N204N|CHST8_ENST00000434302.1_Silent_p.N204N	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	204					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)			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)					GCTGCTCCAATTGGAAGCGGG	0.682																																						ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(610-612)aaT>aaC		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							41	41	41					19																	34263305		2201	4298	6499	SO:0001819	synonymous_variant	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.chr19:34263305T>C	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.612T>C	19.37:g.34263305T>C			Somatic				CHST8_ENST00000434302.1_Silent_p.N204N|CHST8_ENST00000438847.2_Silent_p.N204N	p.N204N	NM_022467.3	NP_071912.2	WXS	Illumina GAIIx	Phase_I	Q9H2A9	CHST8_HUMAN			4	1370	+	Esophageal squamous(110;0.162)		204					Q9H3N2	Silent	SNP	ENST00000262622.4	37	c.612T>C	CCDS12433.1																																																																																				0.682	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		54	65	0	0	0	1	0	54	65					C	34263305	T	C	34263305	2	2	56	1	0	0	0	0	0	0	0	1	3412	1490	52	4		4	CHST8	19	34263305	Silent	SNP	T	TCGA-QM-A5NM-01A-11D-A28R-08	15046772	34263305	24865678	46	9708										
PPP2R1A	5518	broad.mit.edu	37	chr19	52716084	52716084	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	ccaacctggcctctgacgagCaggtgagttttgcttcctgg	12	12	1	2			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:52716084C>A	ENST00000322088.6	+	5	707	c.649C>A	c.(649-651)Cag>Aag	p.Q217K	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q162K|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q38K	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	217	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTCTGACGAGCAGGTGAGTTT	0.597			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(649-651)Cag>Aag		protein phosphatase 2, regulatory subunit A, alpha							156	125	135					19																	52716084		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52716084C>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.649C>A	19.37:g.52716084C>A	ENSP00000324804:p.Gln217Lys		Somatic				PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q162K|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q38K	p.Q217K	NM_014225.5	NP_055040.2	WXS	Illumina GAIIx	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	707	+			217			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.649C>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534224	0.85812	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.16196	2.36;2.36	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.56097	D	0.000027	T	0.51584	0.1683	M	0.93808	3.46	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.991	D;P;P	0.73380	0.98;0.562;0.562	T	0.65319	-0.6197	10	0.87932	D	0	-29.688	15.1189	0.72426	0.0:1.0:0.0:0.0	.	162;217;217	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	K	207;137;217;162	ENSP00000324804:Q217K;ENSP00000415067:Q162K	ENSP00000324804:Q217K	Q	+	1	0	PPP2R1A	57407896	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.689000	0.74562	2.503000	0.84419	0.655000	0.94253	CAG		0.597	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		81	91	1	0	5.41189e-41	1	6.46421e-41	81	91					A	52716084	C	A	52716084	3	1	56	1	0	0	0	0	1	0	0	0	12394	711	25	5	667	5	PPP2R1A	19	52716084	Missense_Mutation	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08	18452779	52716084	6412899	47	9709										
TGM6	343641	broad.mit.edu	37	chr20	2377168	2377168	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	tcagaggacgatgtgtttctGgcctcagaggaggagagaca	15	7	3	3			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:2377168G>T	ENST00000202625.2	+	4	502	c.441G>T	c.(439-441)ctG>ctT	p.L147L	TGM6_ENST00000381423.1_Silent_p.L147L|TGM6_ENST00000477505.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	147					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ATGTGTTTCTGGCCTCAGAGG	0.617																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(439-441)ctG>ctT		transglutaminase 6	L-Glutamine(DB00130)						88	76	80					20																	2377168		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2377168G>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.441G>T	20.37:g.2377168G>T			Somatic				TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Silent_p.L147L	p.L147L	NM_198994.2	NP_945345.2	WXS	Illumina GAIIx	Phase_I	O95932	TGM3L_HUMAN			4	502	+			147					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.441G>T	CCDS13025.1																																																																																				0.617	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		12	89	1	0	9.31168e-06	1	1.02667e-05	12	89					T	2377168	G	T	2377168	2	4	56	1	0	0	0	0	0	0	0	1	15849	1335	47	5		5	TGM6	20	2377168	Silent	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08		2377168	60648352	48	9710										
RBBP9	10741	broad.mit.edu	37	chr20	18477788	18477788	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	cctccgttcccgggaacaatCactgccttgctaggagaagc	10	14	1	1			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:18477788C>T	ENST00000337227.4	-	1	99	c.24G>A	c.(22-24)gtG>gtA	p.V8V	RBBP9_ENST00000493184.1_5'UTR	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	8					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						CGGGAACAATCACTGCCTTGC	0.662																																						ENST00000337227.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						c.(22-24)gtG>gtA		retinoblastoma binding protein 9							54	44	48					20																	18477788		2203	4300	6503	SO:0001819	synonymous_variant	10741					cytoplasm|nucleus	hydrolase activity	g.chr20:18477788C>T	AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"retinoblastoma-binding protein 9"			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.24G>A	20.37:g.18477788C>T			Somatic				RBBP9_ENST00000493184.1_5'UTR	p.V8V	NM_006606.2	NP_006597.2	WXS	Illumina GAIIx	Phase_I	O75884	RBBP9_HUMAN			1	99	-			8					D3DW31|Q5JPH9|Q9H1D8	Silent	SNP	ENST00000337227.4	37	c.24G>A	CCDS13136.1																																																																																				0.662	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	NM_006606		4	46	0	0	0	1	0	4	46					T	18477788	C	T	18477788	2	4	56	1	0	0	0	0	0	0	0	1	13121	813	29	3		3	RBBP9	20	18477788	Silent	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08	16100620	18477788	44547732	49	9711										
RIN2	54453	broad.mit.edu	37	chr20	19955931	19955931	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	cagctctgaatcacggccccCgtgccatggaggccggcagc	13	16	2	1			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:19955931C>A	ENST00000255006.6	+	8	1558	c.1409C>A	c.(1408-1410)cCg>cAg	p.P470Q	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	421					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCACGGCCCCCGTGCCATGGA	0.687																																						ENST00000255006.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.(1408-1410)cCg>cAg		Ras and Rab interactor 2							11	13	12					20																	19955931		1896	4092	5988	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19955931C>A	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1409C>A	20.37:g.19955931C>A	ENSP00000255006:p.Pro470Gln		Somatic				RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	p.P470Q	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	WXS	Illumina GAIIx	Phase_I	Q8WYP3	RIN2_HUMAN			8	1558	+			421					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.1409C>A	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	C	8.721	0.914244	0.17907	.	.	ENSG00000132669	ENST00000255006	T	0.08008	3.14	4.87	1.25	0.21368	.	0.714530	0.13246	N	0.402490	T	0.04861	0.0131	N	0.16478	0.41	0.80722	D	1	B	0.19817	0.039	B	0.12837	0.008	T	0.39333	-0.9619	9	.	.	.	-10.7408	8.9529	0.35801	0.3423:0.5771:0.0:0.0806	.	421	Q8WYP3	RIN2_HUMAN	Q	470	ENSP00000255006:P470Q	.	P	+	2	0	RIN2	19903931	0.776000	0.28616	0.998000	0.56505	0.967000	0.64934	0.071000	0.14594	0.573000	0.29400	0.655000	0.94253	CCG		0.687	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			6	23	1	0	8.12818e-05	1	8.52468e-05	6	23					A	19955931	C	A	19955931	3	1	56	1	0	0	0	0	1	0	0	0	13387	652	23	5	1288	5	RIN2	20	19955931	Missense_Mutation	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08	1478143	19955931	43069589	50	9712										
MC3R	4159	broad.mit.edu	37	chr20	54824623	54824623	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	actcatgcatgaagggggcaGtcaccatcaccattctcctg	9	13	4	1			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:54824623G>C	ENST00000243911.2	+	1	836	c.724G>C	c.(724-726)Gtc>Ctc	p.V242L		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	242					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)			GAAGGGGGCAGTCACCATCAC	0.607																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(724-726)Gtc>Ctc		melanocortin 3 receptor							257	163	195					20																	54824623		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824623G>C		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.724G>C	20.37:g.54824623G>C	ENSP00000243911:p.Val242Leu		Somatic					p.V242L	NM_019888.3	NP_063941.3	WXS	Illumina GAIIx	Phase_I	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	836	+			279					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.724G>C	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842048	0.51057	.	.	ENSG00000124089	ENST00000243911	T	0.36878	1.23	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.096535	0.41938	D	0.000793	T	0.27349	0.0671	L	0.37800	1.135	0.41749	D	0.989653	P	0.41710	0.76	B	0.37550	0.253	T	0.05632	-1.0873	10	0.39692	T	0.17	.	11.2711	0.49140	0.0851:0.0:0.9149:0.0	.	279	P41968	MC3R_HUMAN	L	242	ENSP00000243911:V242L	ENSP00000243911:V242L	V	+	1	0	MC3R	54258030	0.999000	0.42202	0.952000	0.39060	0.977000	0.68977	3.070000	0.50033	2.259000	0.74868	0.555000	0.69702	GTC		0.607	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			92	21	0	0	0	1	0	92	21					C	54824623	G	C	54824623	3	2	56	1	0	0	0	0	1	0	0	0	9374	1029	36	5	726	5	MC3R	20	54824623	Missense_Mutation	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08	34868692	54824623	8200897	51	9713										
BHLHE23	128408	broad.mit.edu	37	chr20	61637712	61637712	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	gtaggggatgacggctcgcaGcccgtccagcgcgtcgttta	15	12	0	1			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:61637712G>A	ENST00000370346.2	-	1	675	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L		NM_080606.3	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	123	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)	1						ACGGCTCGCAGCCCGTCCAGC	0.692																																						ENST00000370346.2																			0				NS(1)	1						c.(367-369)Ctg>Ttg		basic helix-loop-helix family, member e23							20	19	20					20																	61637712		2196	4296	6492	SO:0001819	synonymous_variant	128408				transcription, DNA-dependent	nucleus	DNA binding	g.chr20:61637712G>A	AL121673	CCDS33507.1, CCDS33507.2	20q13.33	2009-01-12	2009-01-12	2009-01-12	ENSG00000125533	ENSG00000125533		"Basic helix-loop-helix proteins"	16093	protein-coding gene	gene with protein product		609331	"basic helix-loop-helix domain containing, class B, 4"	BHLHB4		11863370, 18557763	Standard	NM_080606		Approved	bA305P22.3, Beta4, bHLHe23	uc002yeb.2	Q8NDY6	OTTHUMG00000032948	ENST00000370346.2:c.367C>T	20.37:g.61637712G>A			Somatic					p.L123L	NM_080606.3	NP_542173.1	WXS	Illumina GAIIx	Phase_I	Q8NDY6	BHE23_HUMAN			1	675	-			123			Helix-loop-helix motif.		B2RP69	Silent	SNP	ENST00000370346.2	37	c.367C>T	CCDS33507.1																																																																																				0.692	BHLHE23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080095.2	NM_080606		5	44	0	0	0	1	0	5	44					A	61637712	G	A	61637712	2	1	56	1	0	0	0	0	0	0	0	1	1422	962	34	3		3	BHLHE23	20	61637712	Silent	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08	6813089	61637712	1387808	52	9714										
TMPRSS15	5651	broad.mit.edu	37	chr21	19732106	19732106	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	tgcttgatcctacaccttcaTaaatatctaatatatctgta	3	9	3	1			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr21:19732106T>A	ENST00000284885.3	-	8	881	c.848A>T	c.(847-849)tAt>tTt	p.Y283F		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	283	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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						TACACCTTCATAAATATCTAA	0.259																																						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.(847-849)tAt>tTt		transmembrane protease, serine 15							29	33	32					21																	19732106		2185	4250	6435	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19732106T>A		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.848A>T	21.37:g.19732106T>A	ENSP00000284885:p.Tyr283Phe		Somatic					p.Y283F	NM_002772.2	NP_002763.2	WXS	Illumina GAIIx	Phase_I	P98073	ENTK_HUMAN			8	881	-			283			CUB 1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.848A>T	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.035204	0.54896	.	.	ENSG00000154646	ENST00000284885	T	0.38077	1.16	4.95	4.95	0.65309	CUB (5);	0.000000	0.64402	D	0.000001	T	0.38161	0.1030	L	0.50333	1.59	0.41687	D	0.989329	P	0.44309	0.832	P	0.46685	0.524	T	0.15492	-1.0435	9	.	.	.	.	10.9205	0.47161	0.0:0.0:0.0:1.0	.	283	P98073	ENTK_HUMAN	F	283	ENSP00000284885:Y283F	.	Y	-	2	0	TMPRSS15	18653977	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	2.741000	0.47426	2.080000	0.62538	0.254000	0.18369	TAT		0.259	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		7	20	0	0	0	1	0	7	20					A	19732106	T	A	19732106	3	1	56	1	0	0	0	0	1	0	0	0	16261	1406	49	4	2283	4	TMPRSS15	21	19732106	Missense_Mutation	SNP	T	TCGA-QM-A5NM-01A-11D-A28R-08		19732106	28397789	53	9715										
KRTAP10-8	386681	broad.mit.edu	37	chr21	46032537	46032537	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	tgcccatctgctgcaagcccAtctgctgtgtgcctgtctgc	10	15	3	0			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr21:46032537A>C	ENST00000334662.2	+	1	542	c.520A>C	c.(520-522)Atc>Ctc	p.I174L	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	174	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGCAAGCCCATCTGCTGTGT	0.622																																						ENST00000334662.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(520-522)Atc>Ctc		keratin associated protein 10-8							217	206	210					21																	46032537		2203	4300	6503	SO:0001583	missense	386681					keratin filament		g.chr21:46032537A>C	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"Keratin associated proteins"	20525	protein-coding gene	gene with protein product			"keratin associated protein 18-8"	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.520A>C	21.37:g.46032537A>C	ENSP00000335565:p.Ile174Leu		Somatic				TSPEAR_ENST00000323084.4_Intron	p.I174L	NM_198695.2	NP_941968.2	WXS	Illumina GAIIx	Phase_I	P60410	KR108_HUMAN			1	542	+			174			19 X 5 AA repeats of C-C-X(3).		A0JNW4	Missense_Mutation	SNP	ENST00000334662.2	37	c.520A>C	CCDS13713.1	.	.	.	.	.	.	.	.	.	.	a	2.283	-0.364265	0.05103	.	.	ENSG00000187766	ENST00000334662	T	0.01335	5.0	2.42	-2.48	0.06423	.	.	.	.	.	T	0.01156	0.0038	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48490	-0.9031	9	0.29301	T	0.29	.	0.8504	0.01171	0.27:0.1746:0.3794:0.176	.	174	P60410	KR108_HUMAN	L	174	ENSP00000335565:I174L	ENSP00000335565:I174L	I	+	1	0	KRTAP10-8	44856965	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.120000	0.15647	-0.346000	0.08312	-1.594000	0.00841	ATC		0.622	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		176	238	0	0	0	1	0	176	238					C	46032537	A	C	46032537	3	2	56	1	0	0	0	0	1	0	0	0	8524	217	8	4	522	4	KRTAP10-8	21	46032537	Missense_Mutation	SNP	A	TCGA-QM-A5NM-01A-11D-A28R-08	26300431	46032537	2097358	54	9716										
SBF1	6305	broad.mit.edu	37	chr22	50898502	50898502	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	gtagtcgcgacagcaagcccTttccaccaggctgctcatgg	11	14	1	0			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr22:50898502T>C	ENST00000390679.3	-	26	3554	c.3370A>G	c.(3370-3372)Agg>Ggg	p.R1124G	SBF1_ENST00000348911.6_Missense_Mutation_p.R1125G|SBF1_ENST00000380817.3_Missense_Mutation_p.R1124G|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1124	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCAAGCCCTTTCCACCAGG	0.672																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3370-3372)Agg>Ggg		SET binding factor 1							43	51	48					22																	50898502		2202	4297	6499	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50898502T>C	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.3370A>G	22.37:g.50898502T>C	ENSP00000375097:p.Arg1124Gly		Somatic				SBF1_ENST00000390679.3_Missense_Mutation_p.R1124G|SBF1_ENST00000348911.6_Missense_Mutation_p.R1125G	p.R1124G	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)	26	3553	-		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)	1124			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.3370A>G		.	.	.	.	.	.	.	.	.	.	T	24.6	4.554418	0.86231	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	T;T;T	0.11063	2.81;2.81;2.81	4.28	3.26	0.37387	Myotubularin phosphatase domain (1);	0.000000	0.64402	D	0.000001	T	0.32882	0.0844	M	0.79926	2.475	0.80722	D	1	P;D	0.67145	0.82;0.996	P;D	0.77557	0.65;0.99	T	0.14448	-1.0472	10	0.87932	D	0	.	12.4296	0.55567	0.0:0.0:0.8099:0.1901	.	1124;1124	O95248;O95248-4	MTMR5_HUMAN;.	G	1124;1125;1134;1124	ENSP00000370196:R1124G;ENSP00000252027:R1125G;ENSP00000375097:R1124G	ENSP00000336522:R1134G	R	-	1	2	SBF1	49245368	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.372000	0.59530	0.943000	0.37553	0.459000	0.35465	AGG		0.672	SBF1-201	KNOWN	basic	protein_coding	protein_coding				55	5	0	0	0	1	0	55	5					C	50898502	T	C	50898502	3	2	56	1	0	0	0	0	1	0	0	0	13873	1608	56	4	2375	4	SBF1	22	50898502	Missense_Mutation	SNP	T	TCGA-QM-A5NM-01A-11D-A28R-08		50898502	406064	55	9717										
BCOR	54880	broad.mit.edu	37	chrX	39933118	39933118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	tttcagatctatagatagcaCaaccatttcctggaggagat	8	8	2	3			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:39933118C>T	ENST00000378444.4	-	4	1709	c.1481G>A	c.(1480-1482)tGt>tAt	p.C494Y	BCOR_ENST00000342274.4_Missense_Mutation_p.C494Y|BCOR_ENST00000378455.4_Missense_Mutation_p.C494Y|BCOR_ENST00000397354.3_Missense_Mutation_p.C494Y	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	494					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						ATAGATAGCACAACCATTTCC	0.522			"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.(1480-1482)tGt>tAt		BCL6 corepressor							94	73	80					X																	39933118		2202	4300	6502	SO:0001583	missense	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:39933118C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1481G>A	X.37:g.39933118C>T	ENSP00000367705:p.Cys494Tyr		Somatic				BCOR_ENST00000378444.4_Missense_Mutation_p.C494Y|BCOR_ENST00000378455.4_Missense_Mutation_p.C494Y|BCOR_ENST00000397354.3_Missense_Mutation_p.C494Y	p.C494Y	NM_001123383.1	NP_001116855.1	WXS	Illumina GAIIx	Phase_I	Q6W2J9	BCOR_HUMAN			4	1843	-			494					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.1481G>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894016	0.52121	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	5.77	5.77	0.91146	.	.	.	.	.	T	0.27419	0.0673	N	0.24115	0.695	0.39122	D	0.96167	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.998;0.998;0.996;0.998	T	0.09079	-1.0691	9	0.87932	D	0	-11.5385	18.9644	0.92689	0.0:1.0:0.0:0.0	.	494;494;494;494	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	Y	494	ENSP00000367716:C494Y;ENSP00000380512:C494Y;ENSP00000367705:C494Y;ENSP00000345923:C494Y;ENSP00000384485:C494Y	ENSP00000345923:C494Y	C	-	2	0	BCOR	39818062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.074000	0.64401	2.426000	0.82243	0.600000	0.82982	TGT		0.522	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		10	33	0	0	0	1	0	10	33					T	39933118	C	T	39933118	3	4	56	1	0	0	0	0	1	0	0	0	1386	478	17	3	3834	3	BCOR	23	39933118	Missense_Mutation	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08		39933118	115337442	56	9718										
MUM1L1	139221	broad.mit.edu	37	chrX	105449630	105449630	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	aaattgaagccattgctgccTcattaggactacagtcagag	9	9	2	2			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:105449630T>C	ENST00000357175.2	+	4	854	c.205T>C	c.(205-207)Tca>Cca	p.S69P	MUM1L1_ENST00000337685.2_Missense_Mutation_p.S69P|MUM1L1_ENST00000372552.1_Missense_Mutation_p.S69P	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	69						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CATTGCTGCCTCATTAGGACT	0.388																																						ENST00000337685.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(205-207)Tca>Cca		melanoma associated antigen (mutated) 1-like 1							40	35	37					X																	105449630		1900	4109	6009	SO:0001583	missense	139221							g.chrX:105449630T>C	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.205T>C	X.37:g.105449630T>C	ENSP00000349699:p.Ser69Pro		Somatic				MUM1L1_ENST00000372552.1_Missense_Mutation_p.S69P|MUM1L1_ENST00000357175.2_Missense_Mutation_p.S69P	p.S69P	NM_152423.4	NP_689636.3	WXS	Illumina GAIIx	Phase_I	Q5H9M0	MUML1_HUMAN			5	990	+			69					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.205T>C	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	T	11.00	1.510276	0.27036	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.34667	1.35;1.35;1.35	4.14	2.93	0.34026	.	0.586122	0.14033	N	0.345972	T	0.48537	0.1505	M	0.77820	2.39	0.09310	N	0.999996	D	0.65815	0.995	P	0.55161	0.77	T	0.33803	-0.9854	10	0.45353	T	0.12	-21.8722	5.8764	0.18832	0.2367:0.0:0.0:0.7633	.	69	Q5H9M0	MUML1_HUMAN	P	69	ENSP00000349699:S69P;ENSP00000338641:S69P;ENSP00000361632:S69P	ENSP00000338641:S69P	S	+	1	0	MUM1L1	105336286	0.964000	0.33143	0.455000	0.27031	0.078000	0.17371	2.023000	0.41040	0.677000	0.31305	0.486000	0.48141	TCA		0.388	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		7	27	0	0	0	1	0	7	27					C	105449630	T	C	105449630	3	2	56	1	0	0	0	0	1	0	0	0	9995	1551	54	4	207	4	MUM1L1	23	105449630	Missense_Mutation	SNP	T	TCGA-QM-A5NM-01A-11D-A28R-08	65516512	105449630	49820930	57	9719										
UPF3B	65109	broad.mit.edu	37	chrX	118971901	118971901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	catagcgctccttctgcctaCggcgctcttcttcttgccgc	8	17	4	0	rs143538947	byFrequency	TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:118971901C>T	ENST00000276201.2	-	10	1190	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	UPF3B_ENST00000478840.1_5'Flank|UPF3B_ENST00000345865.2_Missense_Mutation_p.R361H	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	374	Sufficient for association with EJC core.				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)|positive regulation of translation (GO:0045727)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CTTCTGCCTACGGCGCTCTTC	0.463													C|||	8	0.00211921	0.0061	0	3775	,	,		14188	0		0	False		,,,				2504	0					ENST00000276201.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						c.(1120-1122)cGt>cAt		UPF3 regulator of nonsense transcripts homolog B (yeast)		C	HIS/ARG,HIS/ARG	22,3813		0,18,4,1614,567	142	120	128		1082,1121	5	0.7	X	dbSNP_134	128	0,6728		0,0,0,2428,1872	yes	missense,missense	UPF3B	NM_023010.3,NM_080632.2	29,29	0,18,4,4042,2439	TT,TC,T,CC,C		0.0,0.5737,0.2083	probably-damaging,probably-damaging	361/471,374/484	118971901	22,10541	2203	4300	6503	SO:0001583	missense	0				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118971901C>T	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"mental retardation, X-linked 62"	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.1121G>A	X.37:g.118971901C>T	ENSP00000276201:p.Arg374His		Somatic				UPF3B_ENST00000345865.2_Missense_Mutation_p.R361H	p.R374H	NM_080632.2	NP_542199.1	WXS	Illumina GAIIx	Phase_I	Q9BZI7	REN3B_HUMAN			10	1190	-			374			Sufficient for association with EJC core.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	c.1121G>A	CCDS14588.1	2	0.0012055455093429777	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	22.0	4.233980	0.79688	0.005737	0.0	ENSG00000125351	ENST00000276201;ENST00000345865	D;T	0.82526	-1.62;-1.41	5.83	4.97	0.65823	.	0.048787	0.85682	D	0.000000	D	0.83769	0.5326	L	0.46157	1.445	0.45995	D	0.998809	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.94	D	0.86335	0.1701	10	0.87932	D	0	.	12.9013	0.58126	0.0:0.921:0.0:0.079	.	361;374	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	H	374;361	ENSP00000276201:R374H;ENSP00000245418:R361H	ENSP00000276201:R374H	R	-	2	0	UPF3B	118855929	1.000000	0.71417	0.671000	0.29857	0.955000	0.61496	6.988000	0.76212	1.234000	0.43709	0.526000	0.51066	CGT		0.463	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			4	141	0	0	0	1	0	4	141					T	118971901	C	T	118971901	3	4	56	1	0	0	0	0	1	0	0	0	17021	536	19	1	338	1	UPF3B	23	118971901	Missense_Mutation	SNP	C	TCGA-QM-A5NM-01A-11D-A28R-08	13522271	118971901	36298659	58	9720										
FLNA	2316	broad.mit.edu	37	chrX	153588159	153588159	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0508474576271186	3	1	0.667682926829268	1.33536585365854	0.534146341463415	1	1	0	cgccacggtcctgaacgtagGtctccgtcaggttgcctgag	13	13	2	2			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:153588159G>T	ENST00000369850.3	-	23	4156	c.3920C>A	c.(3919-3921)aCc>aAc	p.T1307N	FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000360319.4_Missense_Mutation_p.T1307N|FLNA_ENST00000344736.4_Missense_Mutation_p.T1307N|FLNA_ENST00000422373.1_Missense_Mutation_p.T1307N	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1307					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGAACGTAGGTCTCCGTCAG	0.652																																						ENST00000422373.1																			0				breast(6)	6						c.(3919-3921)aCc>aAc		filamin A, alpha							58	60	59					X																	153588159		2132	4226	6358	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588159G>T	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.3920C>A	X.37:g.153588159G>T	ENSP00000358866:p.Thr1307Asn		Somatic				FLNA_ENST00000360319.4_Missense_Mutation_p.T1307N|FLNA_ENST00000369850.3_Missense_Mutation_p.T1307N|FLNA_ENST00000344736.4_Missense_Mutation_p.T1307N	p.T1307N	NM_001456.3	NP_001447.2	WXS	Illumina GAIIx	Phase_I	P21333	FLNA_HUMAN			23	4168	-	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)		1307					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3920C>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347660	0.24426	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.26	5.26	0.73747	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.137795	0.48286	D	0.000197	T	0.77935	0.4205	L	0.27053	0.805	0.80722	D	1	B;B	0.15930	0.015;0.008	B;B	0.19666	0.026;0.026	T	0.74031	-0.3795	10	0.48119	T	0.1	.	13.7647	0.62988	0.0:0.2092:0.7908:0.0	.	1307;1307	P21333-2;P21333	.;FLNA_HUMAN	N	1307;1280;1307;1307;1307	ENSP00000353467:T1307N;ENSP00000416926:T1307N;ENSP00000358866:T1307N;ENSP00000358863:T1307N	ENSP00000358863:T1307N	T	-	2	0	FLNA	153241353	0.003000	0.15002	0.974000	0.42286	0.199000	0.23934	1.301000	0.33447	2.192000	0.70111	0.600000	0.82982	ACC		0.652	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			25	101	1	0	2.79863e-10	1	3.16687e-10	25	101					T	153588159	G	T	153588159	3	4	56	1	0	0	0	0	1	0	0	0	5941	1261	44	5	4127	5	FLNA	23	153588159	Missense_Mutation	SNP	G	TCGA-QM-A5NM-01A-11D-A28R-08	34616258	153588159	1682401	59	9721										
MMEL1	79258	broad.mit.edu	37	chr1	2541172	2541172	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	gctgtatcttgagttggtctCagggatcacgtggcgccgca	14	10	3	1	rs548411329		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:2541172C>T	ENST00000378412.3	-	5	552	c.391G>A	c.(391-393)Gag>Aag	p.E131K	MMEL1_ENST00000502556.1_Missense_Mutation_p.E131K|MMEL1_ENST00000288709.6_Missense_Mutation_p.E122K			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	131						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GAGTTGGTCTCAGGGATCACG	0.617													c|||	1	0.000199681	0	0	5008	,	,		18889	0.001		0	False		,,,				2504	0					ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(364-366)Gag>Aag		membrane metallo-endopeptidase-like 1							102	81	88					1																	2541172		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2541172C>T	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.391G>A	1.37:g.2541172C>T	ENSP00000367668:p.Glu131Lys		Somatic				MMEL1_ENST00000378412.3_Missense_Mutation_p.E131K|MMEL1_ENST00000502556.1_Missense_Mutation_p.E131K	p.E122K	NM_033467.3	NP_258428.2	WXS	Illumina GAIIx	Phase_I	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	5	604	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	131					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.364G>A	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	c	36	5.718000	0.96839	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	T;T;T	0.74526	-0.85;-0.85;-0.85	5.29	5.29	0.74685	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.84370	0.5457	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85886	0.1425	10	0.87932	D	0	-44.3727	17.8954	0.88886	0.0:1.0:0.0:0.0	.	131	Q495T6	MMEL1_HUMAN	K	131;122;131;131	ENSP00000288709:E122K;ENSP00000367668:E131K;ENSP00000422492:E131K	ENSP00000288709:E122K	E	-	1	0	MMEL1	2531032	1.000000	0.71417	0.983000	0.44433	0.957000	0.61999	7.639000	0.83342	2.452000	0.82932	0.555000	0.69702	GAG		0.617	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		14	41	0	0	0	1	0	14	41					T	2541172	C	T	2541172	3	4	57	1	0	0	0	0	1	0	0	0	9655	835	29	3	2028	3	MMEL1	1	2541172	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08		2541172	246709449	1	9722										
CHD5	26038	broad.mit.edu	37	chr1	6228223	6228223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	ccctcacctctttcttcttcCgcttccctttacacttgttt	2	17	4	0			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:6228223C>T	ENST00000262450.3	-	2	293	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0	Interaction with ASNA1/TRC40.				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)		TTTCTTCTTCCGCTTCCCTTT	0.592																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(193-195)cGg>cAg		chromodomain helicase DNA binding protein 5							150	147	148					1																	6228223		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.chr1:6228223C>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.194G>A	1.37:g.6228223C>T	ENSP00000262450:p.Arg65Gln		Somatic				CHD5_ENST00000378021.1_5'UTR	p.R65Q	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	293	-	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)	65			Lys-rich.		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.194G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643548	0.67244	.	.	ENSG00000116254	ENST00000262450	D	0.91577	-2.87	4.9	4.9	0.64082	.	0.167775	0.23393	U	0.048675	D	0.88727	0.6515	L	0.50333	1.59	0.80722	D	1	D	0.57571	0.98	B	0.44108	0.441	D	0.89741	0.3933	10	0.56958	D	0.05	-23.9777	14.7953	0.69873	0.0:1.0:0.0:0.0	.	65	Q8TDI0	CHD5_HUMAN	Q	65	ENSP00000262450:R65Q	ENSP00000262450:R65Q	R	-	2	0	CHD5	6150810	0.999000	0.42202	0.985000	0.45067	0.910000	0.53928	4.172000	0.58243	2.245000	0.73994	0.313000	0.20887	CGG		0.592	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		18	79	0	0	0	1	0	18	79					T	6228223	C	T	6228223	3	4	57	1	0	0	0	0	1	0	0	0	3330	652	23	1	5830	1	CHD5	1	6228223	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	3687051	6228223	243022398	2	9723										
RERE	473	broad.mit.edu	37	chr1	8684426	8684426	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	gtgtttggcctccgactctcGatatacacacagtctttaaa	7	11	2	0			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:8684426G>C	ENST00000337907.3	-	4	973	c.339C>G	c.(337-339)atC>atG	p.I113M	RERE_ENST00000400907.2_Missense_Mutation_p.I113M|RERE_ENST00000400908.2_Missense_Mutation_p.I113M	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	113	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TCCGACTCTCGATATACACAC	0.368																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(337-339)atC>atG		arginine-glutamic acid dipeptide (RE) repeats							137	128	131					1																	8684426		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8684426G>C	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.339C>G	1.37:g.8684426G>C	ENSP00000338629:p.Ile113Met		Somatic				RERE_ENST00000400907.2_Missense_Mutation_p.I113M|RERE_ENST00000400908.2_Missense_Mutation_p.I113M	p.I113M	NM_012102.3	NP_036234.3	WXS	Illumina GAIIx	Phase_I	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	4	973	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	113			BAH.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.339C>G	CCDS95.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.78|12.78	2.041027|2.041027	0.35989|0.35989	.|.	.|.	ENSG00000142599|ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908|ENST00000514428	D;D;D|.	0.86097|.	-2.07;-2.07;-2.07|.	5.66|5.66	3.77|3.77	0.43336|0.43336	Bromo adjacent homology (BAH) domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.51007|0.51007	0.1649|0.1649	L|L	0.34521|0.34521	1.04|1.04	0.43183|0.43183	D|D	0.995009|0.995009	D|.	0.76494|.	0.999|.	D|.	0.87578|.	0.998|.	T|T	0.43972|0.43972	-0.9358|-0.9358	9|5	0.72032|.	D|.	0.01|.	-18.7257|-18.7257	9.4371|9.4371	0.38646|0.38646	0.2794:0.0:0.7206:0.0|0.2794:0.0:0.7206:0.0	.|.	113|.	Q9P2R6|.	RERE_HUMAN|.	M|W	113|5	ENSP00000338629:I113M;ENSP00000383699:I113M;ENSP00000383700:I113M|.	ENSP00000338629:I113M|.	I|S	-|-	3|2	3|0	RERE|RERE	8607013|8607013	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.839000|0.839000	0.27586|0.27586	1.538000|1.538000	0.49270|0.49270	0.650000|0.650000	0.86243|0.86243	ATC|TCG		0.368	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			17	61	0	0	0	1	0	17	61					C	8684426	G	C	8684426	3	2	57	1	0	0	0	0	1	0	0	0	13246	1048	37	2	4445	2	RERE	1	8684426	Missense_Mutation	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08	2456203	8684426	240566195	3	9724										
EPHB2	2048	broad.mit.edu	37	chr1	23232558	23232558	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	agtgcgggagtttgccaaggAaattgacatctcctgtgtca	12	8	2	1			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:23232558A>G	ENST00000400191.3	+	10	1862	c.1844A>G	c.(1843-1845)gAa>gGa	p.E615G	EPHB2_ENST00000374630.3_Missense_Mutation_p.E615G|EPHB2_ENST00000374627.1_Missense_Mutation_p.E610G|EPHB2_ENST00000374632.3_Missense_Mutation_p.E616G	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	615					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)		TTTGCCAAGGAAATTGACATC	0.532																																						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.(1843-1845)gAa>gGa		EPH receptor B2							107	93	97					1																	23232558		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23232558A>G	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.1844A>G	1.37:g.23232558A>G	ENSP00000383053:p.Glu615Gly		Somatic				EPHB2_ENST00000374632.3_Missense_Mutation_p.E616G|EPHB2_ENST00000374627.1_Missense_Mutation_p.E610G|EPHB2_ENST00000374630.3_Missense_Mutation_p.E615G	p.E615G	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)	10	1862	+		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)	615					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.1844A>G		.	.	.	.	.	.	.	.	.	.	A	28.8	4.948671	0.92660	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.01	5.01	0.66863	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78457	0.4286	M	0.93507	3.425	0.80722	D	1	P;D;D;D	0.89917	0.951;1.0;1.0;1.0	P;D;D;D	0.74674	0.534;0.963;0.963;0.984	D	0.84430	0.0576	10	0.87932	D	0	.	14.0348	0.64638	1.0:0.0:0.0:0.0	.	557;615;633;616	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	G	557;615;615;616;610	ENSP00000363761:E615G;ENSP00000383053:E615G;ENSP00000363763:E616G;ENSP00000363758:E610G	ENSP00000363755:E557G	E	+	2	0	EPHB2	23105145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.087000	0.94110	2.239000	0.73571	0.524000	0.50904	GAA		0.532	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		18	15	0	0	0	1	0	18	15					G	23232558	A	G	23232558	3	3	57	1	0	0	0	0	1	0	0	0	5177	246	9	4	1885	4	EPHB2	1	23232558	Missense_Mutation	SNP	A	TCGA-QN-A5NN-01A-11D-A28R-08	14548132	23232558	226018063	4	9725										
FRRS1	391059	broad.mit.edu	37	chr1	100181217	100181217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	acagttgtggtgaacatgagCatccgatgcacctgcaaggt	12	9	0	2			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:100181217C>T	ENST00000414213.1	-	12	1849	c.1248G>A	c.(1246-1248)atG>atA	p.M416I	FRRS1_ENST00000492943.1_5'Flank|FRRS1_ENST00000287474.5_Missense_Mutation_p.M416I			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	416	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TGAACATGAGCATCCGATGCA	0.418																																						ENST00000414213.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26						c.(1246-1248)atG>atA		ferric-chelate reductase 1							101	96	98					1																	100181217		2203	4300	6503	SO:0001583	missense	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100181217C>T	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"stromal cell derived factor receptor 2 homolog (mouse)"	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1248G>A	1.37:g.100181217C>T	ENSP00000393884:p.Met416Ile		Somatic				FRRS1_ENST00000287474.5_Missense_Mutation_p.M416I	p.M416I			WXS	Illumina GAIIx	Phase_I	Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	12	1849	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)	416			Cytochrome b561.		A6NLN7	Missense_Mutation	SNP	ENST00000414213.1	37	c.1248G>A		.	.	.	.	.	.	.	.	.	.	C	3.629	-0.075849	0.07184	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.47	1.21	0.21127	.	0.753768	0.13385	N	0.391844	T	0.06554	0.0168	N	0.02960	-0.455	0.29974	N	0.818277	B	0.09022	0.002	B	0.12837	0.008	T	0.39292	-0.9621	9	0.21014	T	0.42	-1.0111	10.0593	0.42263	0.4324:0.4555:0.1121:0.0	.	416	Q6ZNA5-2	.	I	416	.	ENSP00000287474:M416I	M	-	3	0	FRRS1	99953805	0.096000	0.21769	0.755000	0.31263	0.248000	0.25809	0.208000	0.17415	0.761000	0.33130	0.460000	0.39030	ATG		0.418	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		16	16	0	0	0	1	0	16	16					T	100181217	C	T	100181217	3	4	57	1	0	0	0	0	1	0	0	0	6068	710	25	3	656	3	FRRS1	1	100181217	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	76948659	100181217	149069404	5	9726										
COL11A1	1301	broad.mit.edu	37	chr1	103352425	103352425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	ttcgggctggattggtctgaGtacccattggaaatttcata	11	7	2	1			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:103352425G>A	ENST00000370096.3	-	63	5108	c.4796C>T	c.(4795-4797)aCt>aTt	p.T1599I	COL11A1_ENST00000358392.2_Missense_Mutation_p.T1611I|COL11A1_ENST00000353414.4_Missense_Mutation_p.T1560I|COL11A1_ENST00000512756.1_Missense_Mutation_p.T1483I	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1599	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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)		ATTGGTCTGAGTACCCATTGG	0.403																																						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.(4831-4833)aCt>aTt		collagen, type XI, alpha 1							198	190	193					1																	103352425		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.chr1:103352425G>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.4796C>T	1.37:g.103352425G>A	ENSP00000359114:p.Thr1599Ile		Somatic				COL11A1_ENST00000353414.4_Missense_Mutation_p.T1560I|COL11A1_ENST00000512756.1_Missense_Mutation_p.T1483I|COL11A1_ENST00000370096.3_Missense_Mutation_p.T1599I	p.T1611I	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)	63	5149	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1599			Fibrillar collagen NC1.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4832C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055320	0.55325	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.53	5.53	0.82687	Fibrillar collagen, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86727	0.6002	H	0.95187	3.635	0.58432	D	0.999998	P;P;D;D;B	0.57571	0.49;0.578;0.98;0.97;0.435	B;B;P;P;B	0.52386	0.406;0.283;0.572;0.697;0.283	D	0.90423	0.4418	10	0.87932	D	0	.	14.9965	0.71436	0.0:0.1421:0.8579:0.0	.	1483;1560;1611;1599;819	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	I	1599;1611;1560;819;1483	ENSP00000359114:T1599I;ENSP00000351163:T1611I;ENSP00000302551:T1560I;ENSP00000426533:T1483I	ENSP00000302551:T1560I	T	-	2	0	COL11A1	103125013	1.000000	0.71417	0.945000	0.38365	0.920000	0.55202	7.884000	0.87274	2.608000	0.88229	0.313000	0.20887	ACT		0.403	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		12	38	0	0	0	1	0	12	38					A	103352425	G	A	103352425	3	1	57	1	0	0	0	0	1	0	0	0	3669	1029	36	3	644	3	COL11A1	1	103352425	Missense_Mutation	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08	3171208	103352425	145898196	6	9727										
CELSR2	1952	broad.mit.edu	37	chr1	109801533	109801533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	cctcctcctccgtgctcttcCggcccatccaccccgtcgga	7	22	1	0			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:109801533C>T	ENST00000271332.3	+	2	3851	c.3790C>T	c.(3790-3792)Cgg>Tgg	p.R1264W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1264	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGTGCTCTTCCGGCCCATCCA	0.697																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(3790-3792)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 2							32	30	31					1																	109801533		2201	4299	6500	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109801533C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3790C>T	1.37:g.109801533C>T	ENSP00000271332:p.Arg1264Trp		Somatic					p.R1264W	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	3851	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1264			EGF-like 1; calcium-binding.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.3790C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753540	0.49362	.	.	ENSG00000143126	ENST00000271332	T	0.54866	0.55	4.68	2.82	0.32997	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.63943	0.2554	M	0.84511	2.7	0.49687	D	0.999818	D	0.89917	1.0	D	0.70935	0.971	T	0.69569	-0.5110	9	0.72032	D	0.01	.	10.6776	0.45796	0.0:0.8421:0.0:0.1579	.	1264	Q9HCU4	CELR2_HUMAN	W	1264	ENSP00000271332:R1264W	ENSP00000271332:R1264W	R	+	1	2	CELSR2	109603056	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	2.285000	0.43487	0.709000	0.31976	-0.251000	0.11542	CGG		0.697	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		9	17	0	0	0	1	0	9	17					T	109801533	C	T	109801533	3	4	57	1	0	0	0	0	1	0	0	0	3224	643	23	1	3796	1	CELSR2	1	109801533	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	6449108	109801533	139449088	7	9728										
ZBTB7B	51043	broad.mit.edu	37	chr1	154987310	154987312	+	In_Frame_Del	DEL	CTT	CTT	-													0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	ctagctgcctgtagccactaCttcaagaagcttttcactga							TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:154987310_154987312delCTT	ENST00000368426.3	+	3	311_313	c.174_176delCTT	c.(172-177)tacttc>tac	p.F59del	ZBTB7B_ENST00000292176.2_In_Frame_Del_p.F59del|ZBTB7B_ENST00000535420.1_In_Frame_Del_p.F59del|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000417934.2_In_Frame_Del_p.F93del	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	59	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTAGCCACTACTTCAAGAAGCTT	0.65																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(172-177)tac>ta		zinc finger and BTB domain containing 7B																																				SO:0001651	inframe_deletion	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.chr1:154987310_154987312delCTT	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.174_176delCTT	1.37:g.154987310_154987312delCTT	ENSP00000357411:p.Phe59del		Somatic				ZBTB7B_ENST00000292176.2_In_Frame_Del_p.YF58del|ZBTB7B_ENST00000417934.2_In_Frame_Del_p.YF92del|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_In_Frame_Del_p.YF58del	p.YF58del	NM_001256455.1	NP_001243384.1	WXS	Illumina GAIIx	Phase_I	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	311_313	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		58			BTB.		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	In_Frame_Del	DEL	ENST00000368426.3	37	c.174_176delCTT	CCDS1081.1																																																																																				0.65	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		232	51						232	51	---	---	---	---	-	154987312	CTT	-	154987310	7	5	57	1	0	1	0	1	0	0	0	0	17569	576	20	0	176	0	ZBTB7B	1	154987310	In_Frame_Del	DEL	CTT	TCGA-QN-A5NN-01A-11D-A28R-08	45185777	154987310	94263311	8	9729										
KIF14	9928	broad.mit.edu	37	chr1	200522651	200522653	+	In_Frame_Del	DEL	TTC	TTC	-													0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	cttgatttagattgttggtgTtcttctttggtattttgatt					rs201934562|rs200536297		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:200522651_200522653delTTC	ENST00000367350.4	-	30	5248_5250	c.4810_4812delGAA	c.(4810-4812)gaadel	p.E1604del		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1604	Required for CIT-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						ATTGTTGGTGTTCTTCTTTGGTA	0.419																																						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.(4810-4812)del		kinesin family member 14																																				SO:0001651	inframe_deletion	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200522651_200522653delTTC	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.4810_4812delGAA	1.37:g.200522654_200522656delTTC	ENSP00000356319:p.Glu1604del		Somatic					p.E1604del	NM_014875.2	NP_055690.1	WXS	Illumina GAIIx	Phase_I	Q15058	KIF14_HUMAN			30	5248_5250	-			1604			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	In_Frame_Del	DEL	ENST00000367350.4	37	c.4810_4812delGAA	CCDS30963.1																																																																																				0.419	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		13	29						13	29	---	---	---	---	-	200522653	TTC	-	200522651	7	5	57	1	0	1	0	1	0	0	0	0	8285	1722	60	0	138	0	KIF14	1	200522651	In_Frame_Del	DEL	TTC	TCGA-QN-A5NN-01A-11D-A28R-08	45535341	200522651	48727970	9	9730										
TARBP1	6894	broad.mit.edu	37	chr1	234541826	234541826	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	actgcagcacaactataaggGcttgcttcagaattagtttc	8	9	1	1			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:234541826G>C	ENST00000040877.1	-	24	3811	c.3812C>G	c.(3811-3813)gCc>gGc	p.A1271G	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1271					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)			AACTATAAGGGCTTGCTTCAG	0.363																																						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.(3811-3813)gCc>gGc		TAR (HIV-1) RNA binding protein 1							85	85	85					1																	234541826		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234541826G>C		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.3812C>G	1.37:g.234541826G>C	ENSP00000040877:p.Ala1271Gly		Somatic				TARBP1_ENST00000483404.1_5'UTR	p.A1271G	NM_005646.3	NP_005637.3	WXS	Illumina GAIIx	Phase_I	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		24	3811	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1271					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.3812C>G	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027611	0.54790	.	.	ENSG00000059588	ENST00000040877	T	0.32515	1.45	4.29	4.29	0.51040	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.62201	-0.6904	10	0.59425	D	0.04	-1.8448	16.8926	0.86091	0.0:0.0:1.0:0.0	.	1271	Q13395	TARB1_HUMAN	G	1271	ENSP00000040877:A1271G	ENSP00000040877:A1271G	A	-	2	0	TARBP1	232608449	1.000000	0.71417	0.978000	0.43139	0.443000	0.32047	7.642000	0.83385	2.219000	0.72066	0.462000	0.41574	GCC		0.363	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		13	46	0	0	0	1	0	13	46					C	234541826	G	C	234541826	3	2	57	1	0	0	0	0	1	0	0	0	15570	1203	42	5	1081	5	TARBP1	1	234541826	Missense_Mutation	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08	34019175	234541826	14708795	10	9731										
OR14I1	401994	broad.mit.edu	37	chr1	248844931	248844931	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	cgactctgtcctgaagggatTctgagcaccgttgagaagat	12	9	2	4			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:248844931T>G	ENST00000342623.3	-	1	698	c.675A>C	c.(673-675)agA>agC	p.R225S		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	225						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(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CTGAAGGGATTCTGAGCACCG	0.488																																						ENST00000342623.3																			0				NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(673-675)agA>agC		olfactory receptor, family 14, subfamily I, member 1							82	85	84					1																	248844931		2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248844931T>G		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"GPCR / Class A : Olfactory receptors"	19575	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily BU, member 1"	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.675A>C	1.37:g.248844931T>G	ENSP00000339726:p.Arg225Ser		Somatic					p.R225S	NM_001004734.1	NP_001004734.1	WXS	Illumina GAIIx	Phase_I	A6ND48	O14I1_HUMAN			1	698	-			225						Missense_Mutation	SNP	ENST00000342623.3	37	c.675A>C	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	13.03	2.114597	0.37339	.	.	ENSG00000189181	ENST00000342623	T	0.00249	8.44	3.49	-6.97	0.01616	GPCR, rhodopsin-like superfamily (1);	0.130874	0.30771	N	0.008920	T	0.00178	0.0005	M	0.87547	2.89	0.09310	N	1	B	0.15719	0.014	B	0.19666	0.026	T	0.53968	-0.8363	10	0.72032	D	0.01	.	2.4437	0.04500	0.141:0.4983:0.1166:0.244	.	225	A6ND48	O14I1_HUMAN	S	225	ENSP00000339726:R225S	ENSP00000339726:R225S	R	-	3	2	OR14I1	246911554	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-2.251000	0.01186	-1.627000	0.01550	0.443000	0.29094	AGA		0.488	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		16	44	0	0	0	1	0	16	44					G	248844931	T	G	248844931	3	3	57	1	0	0	0	0	1	0	0	0	10956	1780	62	4	264	4	OR14I1	1	248844931	Missense_Mutation	SNP	T	TCGA-QN-A5NN-01A-11D-A28R-08	14303105	248844931	405690	11	9732										
GPR39	2863	broad.mit.edu	37	chr2	133174753	133174753	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	atcttcgtgatgggccttctGgggaacagcgccaccattcg	12	12	2	1			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr2:133174753G>A	ENST00000329321.3	+	1	607	c.138G>A	c.(136-138)ctG>ctA	p.L46L		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	46					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGGCCTTCTGGGGAACAGCG	0.517																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(136-138)ctG>ctA		G protein-coupled receptor 39							135	123	127					2																	133174753		2203	4300	6503	SO:0001819	synonymous_variant	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133174753G>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.138G>A	2.37:g.133174753G>A			Somatic					p.L46L	NM_001508.2	NP_001499.1	WXS	Illumina GAIIx	Phase_I	O43194	GPR39_HUMAN			1	607	+			46					B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	ENST00000329321.3	37	c.138G>A	CCDS2170.1																																																																																				0.517	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			60	11	0	0	0	1	0	60	11					A	133174753	G	A	133174753	2	1	57	1	0	0	0	0	0	0	0	1	6701	1335	47	3		3	GPR39	2	133174753	Silent	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08		133174753	110024620	12	9733										
YSK4	80122	broad.mit.edu	37	chr2	135745372	135745372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	agttctcttcttcaggttttCgcgttttactaccatggcag	8	10	3	0	rs199756836		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr2:135745372C>T	ENST00000375845.3	-	7	1100	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R374Q|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R244Q	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	357							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTCAGGTTTTCGCGTTTTACT	0.373													C|||	1	0.000199681	0	0	5008	,	,		19845	0.001		0	False		,,,				2504	0					ENST00000375845.3																			0											c.(1069-1071)cGa>cAa		mitogen-activated protein kinase kinase kinase 19							59	56	57					2																	135745372		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135745372C>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1070G>A	2.37:g.135745372C>T	ENSP00000365005:p.Arg357Gln		Somatic				MAP3K19_ENST00000392915.1_Missense_Mutation_p.R374Q|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R244Q|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	p.R357Q	NM_025052.3	NP_079328.3	WXS	Illumina GAIIx	Phase_I					7	1100	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1070G>A	CCDS2176.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.569	0.289899	0.10567	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.72725	-0.68;-0.67;1.67	4.58	-2.79	0.05841	.	0.526148	0.15899	N	0.239179	T	0.48750	0.1517	L	0.31926	0.97	0.09310	N	0.999998	B;B;B	0.32893	0.389;0.389;0.27	B;B;B	0.21546	0.035;0.035;0.015	T	0.23297	-1.0192	10	0.42905	T	0.14	.	6.6913	0.23174	0.0:0.2181:0.4093:0.3726	.	244;374;357	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	Q	357;244;374	ENSP00000365005:R357Q;ENSP00000351140:R244Q;ENSP00000376647:R374Q	ENSP00000351140:R244Q	R	-	2	0	YSK4	135461842	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.267000	0.08619	-0.944000	0.03686	-0.196000	0.12772	CGA		0.373	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		18	11	0	0	0	1	0	18	11					T	135745372	C	T	135745372	3	4	57	1	0	0	0	0	1	0	0	0	17510	884	31	1	2932	1	YSK4	2	135745372	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	2570619	135745372	107454001	13	9734										
FBLN2	2199	broad.mit.edu	37	chr3	13663415	13663415	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	atgcgcacaggaagtgcgtgGgtaagccagggccccgcctg	16	12	0	0			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:13663415G>A	ENST00000295760.7	+	8	2224				FBLN2_ENST00000492059.1_Splice_Site_p.D766N|FBLN2_ENST00000404922.3_Splice_Site_p.D766N|FBLN2_ENST00000535798.1_Intron	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			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)			GAAGTGCGTGGGTAAGCCAGG	0.617																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.e9+1		fibulin 2							45	50	48					3																	13663415		2106	4211	6317	SO:0001627	intron_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13663415G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2155+2084G>A	3.37:g.13663415G>A			Somatic				FBLN2_ENST00000492059.1_Splice_Site_p.D766_splice|FBLN2_ENST00000535798.1_Intron|FBLN2_ENST00000295760.7_Intron	p.D766_splice	NM_001004019.1	NP_001004019.1	WXS	Illumina GAIIx	Phase_I	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		9	2415	+			764			EGF-like 4; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Splice_Site	SNP	ENST00000295760.7	37	c.2296_splice	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560904	0.86335	.	.	ENSG00000163520	ENST00000404922;ENST00000492059	D;D	0.99051	-5.37;-5.37	5.09	4.2	0.49525	.	0.050316	0.85682	D	0.000000	D	0.99077	0.9683	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99601	1.0978	10	0.87932	D	0	.	12.9284	0.58272	0.0:0.0:0.8374:0.1626	.	766	P98095-2	.	N	766	ENSP00000384169:D766N;ENSP00000420042:D766N	ENSP00000384169:D766N	D	+	1	0	FBLN2	13638416	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.317000	0.79018	1.109000	0.41680	0.579000	0.79373	GAC		0.617	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		9	14	0	0	0	1	0	9	14					A	13663415	G	A	13663415	1	1	57	0	1	0	0	0	0	0	0	0	5707	1246	43	3		3	FBLN2	3	13663415	Intron	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08		13663415	184359015	14	9735										
GRIP2	80852	broad.mit.edu	37	chr3	14552718	14552718	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	cttcagcttcaccaggtcctCgcactgccgcaggatttgca	9	15	2	0	rs371393195		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:14552718C>T	ENST00000273083.3	-	0	1952							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						ACCAGGTCCTCGCACTGCCGC	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		C	LYS/GLU	1,4149		0,1,2074	73	78	76		2178	4.1	1	3		76	0,8446		0,0,4223	no	missense	GRIP2	NM_001080423.2	56	0,1,6297	TT,TC,CC		0.0,0.0241,0.0079	probably-damaging	727/1141	14552718	1,12595	2075	4223	6298			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14552718C>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.14552718C>T			Somatic								WXS	Illumina GAIIx	Phase_I	Q9C0E4	GRIP2_HUMAN			0	1952	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.617	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		12	28	0	0	0	1	0	12	28					T	14552718	C	T	14552718	1	4	57	0	1	0	0	0	0	0	0	0	6797	893	31	1		1	GRIP2	3	14552718	RNA	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	889303	14552718	183469712	15	9736										
GNAI2	2771	broad.mit.edu	37	chr3	50290582	50290582	+	Frame_Shift_Del	DEL	T	T	-													0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	tgcaggcctgctttggccgcTcaagggaataccagctcaac							TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:50290582delT	ENST00000313601.6	+	4	814	c.430delT	c.(430-432)tcafs	p.S144fs	GNAI2_ENST00000536647.1_Frame_Shift_Del_p.S63fs|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000422163.1_Frame_Shift_Del_p.S128fs|GNAI2_ENST00000440628.1_Frame_Shift_Del_p.S92fs|GNAI2_ENST00000451956.1_Frame_Shift_Del_p.S107fs|GNAI2_ENST00000266027.5_Frame_Shift_Del_p.S128fs	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	144					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)		CTTTGGCCGCTCAAGGGAATA	0.657																																						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.(430-432)cafs		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2							163	153	156					3																	50290582		2203	4300	6503	SO:0001589	frameshift_variant	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.chr3:50290582delT	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.430delT	3.37:g.50290582delT	ENSP00000312999:p.Ser144fs		Somatic				GNAI2_ENST00000422163.1_Frame_Shift_Del_p.S128fs|GNAI2_ENST00000451956.1_Frame_Shift_Del_p.S107fs|GNAI2_ENST00000440628.1_Frame_Shift_Del_p.S92fs|GNAI2_ENST00000536647.1_Frame_Shift_Del_p.S63fs|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000266027.5_Frame_Shift_Del_p.S128fs	p.S144fs	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)	4	814	+			144					B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Frame_Shift_Del	DEL	ENST00000313601.6	37	c.430delT	CCDS2813.1																																																																																				0.657	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		13	232						13	232	---	---	---	---	-	50290582	T	-	50290582	7	5	57	1	0	1	0	1	0	0	0	0	6513	1551	54	0	455	0	GNAI2	3	50290582	Frame_Shift_Del	DEL	T	TCGA-QN-A5NN-01A-11D-A28R-08	35737864	50290582	147731848	16	9737										
DNAH1	25981	broad.mit.edu	37	chr3	52366244	52366244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	acccttgcatgttcgcacaaCgtgtggtccaggccaacgcc	10	15	0	0	rs188467919	byFrequency	TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:52366244C>T	ENST00000420323.2	+	8	1381	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	374	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTTCGCACAACGTGTGGTCCA	0.602													C|||	2	0.000399361	0	0.0014	5008	,	,		21047	0		0	False		,,,				2504	0.001					ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(1120-1122)Cgt>Tgt		dynein, axonemal, heavy chain 1							67	74	72					3																	52366244		2148	4244	6392	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.chr3:52366244C>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.1120C>T	3.37:g.52366244C>T	ENSP00000401514:p.Arg374Cys		Somatic					p.R374C	NM_015512.4	NP_056327.4	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)	8	1381	+			374			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.1120C>T	CCDS46842.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.48	3.399499	0.62177	.	.	ENSG00000114841	ENST00000420323	T	0.39229	1.09	5.81	5.81	0.92471	.	0.000000	0.47852	D	0.000207	T	0.71099	0.3300	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.76691	-0.2866	10	0.66056	D	0.02	.	14.1121	0.65129	0.2638:0.7362:0.0:0.0	.	374;374	C9JXH6;Q9P2D7-3	.;.	C	374	ENSP00000401514:R374C	ENSP00000401514:R374C	R	+	1	0	DNAH1	52341284	1.000000	0.71417	0.953000	0.39169	0.399000	0.30720	2.281000	0.43452	2.757000	0.94681	0.462000	0.41574	CGT		0.602	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		12	14	0	0	0	1	0	12	14					T	52366244	C	T	52366244	3	4	57	1	0	0	0	0	1	0	0	0	4599	536	19	1	1146	1	DNAH1	3	52366244	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	2075662	52366244	145656186	17	9738										
PARP9	83666	broad.mit.edu	37	chr3	122247220	122247220	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	tgatgtagagattaatcaacAgggctgccacttgcgaatcc	10	9	1	2			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:122247220A>T	ENST00000360356.2	-	11	2783	c.2556T>A	c.(2554-2556)ccT>ccA	p.P852P	PARP9_ENST00000492382.1_Silent_p.P397P|PARP9_ENST00000471785.1_Silent_p.P817P|PARP9_ENST00000477522.2_Silent_p.P817P	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	852					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)		ATTAATCAACAGGGCTGCCAC	0.453																																						ENST00000360356.2																			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.(2554-2556)ccT>ccA		poly (ADP-ribose) polymerase family, member 9							108	101	104					3																	122247220		2203	4300	6503	SO:0001819	synonymous_variant	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122247220A>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.2556T>A	3.37:g.122247220A>T			Somatic				PARP9_ENST00000477522.2_Silent_p.P817P|PARP9_ENST00000471785.1_Silent_p.P817P|PARP9_ENST00000492382.1_Silent_p.P397P	p.P852P	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	WXS	Illumina GAIIx	Phase_I	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	11	2783	-			852					A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	ENST00000360356.2	37	c.2556T>A	CCDS3014.1																																																																																				0.453	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		28	48	0	0	0	1	0	28	48					T	122247220	A	T	122247220	2	4	57	1	0	0	0	0	0	0	0	1	11475	175	7	4		4	PARP9	3	122247220	Silent	SNP	A	TCGA-QN-A5NN-01A-11D-A28R-08	69880976	122247220	75775210	18	9739										
CLCN2	1181	broad.mit.edu	37	chr3	184071184	184071184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	tgccaccacctgtgaacgctCgatggagcccagcagaatca	10	14	1	2			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:184071184C>T	ENST00000265593.4	-	17	2053	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K	CLCN2_ENST00000434054.2_Missense_Mutation_p.E584K|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.E628K|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.E611K|CLCN2_ENST00000475279.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	628	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TGTGAACGCTCGATGGAGCCC	0.632																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1882-1884)Gag>Aag		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						21	23	22					3																	184071184		2201	4296	6497	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184071184C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1882G>A	3.37:g.184071184C>T	ENSP00000265593:p.Glu628Lys		Somatic				CLCN2_ENST00000344937.7_Missense_Mutation_p.E611K|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.E584K|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.E628K	p.E628K	NM_004366.5	NP_004357.3	WXS	Illumina GAIIx	Phase_I	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		17	2053	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		628			CBS 1.		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.1882G>A	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	36	5.822591	0.96989	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.52	5.52	0.82312	Cystathionine beta-synthase, core (1);	0.156175	0.56097	D	0.000027	D	0.91036	0.7180	L	0.52126	1.63	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.994;0.997;0.994;0.994	P;P;P;P;P	0.61658	0.783;0.783;0.892;0.783;0.783	D	0.91161	0.4961	10	0.56958	D	0.05	-25.2283	19.0475	0.93027	0.0:1.0:0.0:0.0	.	584;628;611;628;584	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	K	628;611;584;628	ENSP00000265593:E628K;ENSP00000345056:E611K;ENSP00000400425:E584K;ENSP00000391928:E628K	ENSP00000265593:E628K	E	-	1	0	CLCN2	185553878	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.713000	0.84693	2.595000	0.87683	0.563000	0.77884	GAG		0.632	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			14	35	0	0	0	1	0	14	35					T	184071184	C	T	184071184	3	4	57	1	0	0	0	0	1	0	0	0	3465	893	31	1	846	1	CLCN2	3	184071184	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	61823964	184071184	13951246	19	9740										
WFS1	7466	broad.mit.edu	37	chr4	6304157	6304157	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	atggcgccgtgaagttcgccTtcgacttctttttcttccca	8	13	2	1			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr4:6304157T>C	ENST00000226760.1	+	8	2805	c.2635T>C	c.(2635-2637)Ttc>Ctc	p.F879L	WFS1_ENST00000503569.1_Missense_Mutation_p.F879L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	879	Poly-Phe.				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)		GAAGTTCGCCTTCGACTTCTT	0.622																																						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.(2635-2637)Ttc>Ctc		Wolfram syndrome 1 (wolframin)							51	50	51					4																	6304157		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6304157T>C	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.2635T>C	4.37:g.6304157T>C	ENSP00000226760:p.Phe879Leu		Somatic				WFS1_ENST00000503569.1_Missense_Mutation_p.F879L	p.F879L	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	2805	+			879			Poly-Phe.		B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.2635T>C	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410283	0.62399	.	.	ENSG00000109501	ENST00000503569;ENST00000226760;ENST00000540337	D;D	0.94758	-3.51;-3.51	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.93749	0.8002	L	0.32530	0.975	0.54753	D	0.999989	D	0.71674	0.998	D	0.76071	0.987	D	0.90456	0.4442	10	0.02654	T	1	-41.2462	13.456	0.61199	0.0:0.0:0.0:1.0	.	879	O76024	WFS1_HUMAN	L	879;879;257	ENSP00000423337:F879L;ENSP00000226760:F879L	ENSP00000226760:F879L	F	+	1	0	WFS1	6355058	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.277000	0.78572	1.975000	0.57531	0.459000	0.35465	TTC		0.622	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			33	12	0	0	0	1	0	33	12					C	6304157	T	C	6304157	3	2	57	1	0	0	0	0	1	0	0	0	17375	1609	56	4	2661	4	WFS1	4	6304157	Missense_Mutation	SNP	T	TCGA-QN-A5NN-01A-11D-A28R-08		6304157	184850119	20	9741										
CDH10	1008	broad.mit.edu	37	chr5	24537572	24537572	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	cattgatatcatgaattttgAtcacaaactctgactctggc	6	9	4	4			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:24537572A>C	ENST00000264463.4	-	3	950	c.443T>G	c.(442-444)aTc>aGc	p.I148S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	148	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(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)		ATGAATTTTGATCACAAACTC	0.418										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.(442-444)aTc>aGc		cadherin 10, type 2 (T2-cadherin)							156	151	153					5																	24537572		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.chr5:24537572A>C	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.443T>G	5.37:g.24537572A>C	ENSP00000264463:p.Ile148Ser	HNSCC(23;0.051)	Somatic					p.I148S	NM_006727.3	NP_006718.2	WXS	Illumina GAIIx	Phase_I	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	950	-			148			Cadherin 1.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.443T>G	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443200	0.83993	.	.	ENSG00000040731	ENST00000264463	T	0.69685	-0.42	5.82	5.82	0.92795	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.048095	0.85682	D	0.000000	D	0.86301	0.5900	M	0.93594	3.435	0.51767	D	0.999936	D	0.76494	0.999	D	0.87578	0.998	D	0.89805	0.3978	10	0.87932	D	0	.	15.3558	0.74425	1.0:0.0:0.0:0.0	.	148	Q9Y6N8	CAD10_HUMAN	S	148	ENSP00000264463:I148S	ENSP00000264463:I148S	I	-	2	0	CDH10	24573329	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.339000	0.96797	2.225000	0.72522	0.455000	0.32223	ATC		0.418	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		27	108	0	0	0	1	0	27	108					C	24537572	A	C	24537572	3	2	57	1	0	0	0	0	1	0	0	0	3098	333	12	4	1963	4	CDH10	5	24537572	Missense_Mutation	SNP	A	TCGA-QN-A5NN-01A-11D-A28R-08		24537572	156377688	21	9742										
SLC45A2	51151	broad.mit.edu	37	chr5	33947401	33947401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	ggaagagcccaataaatcccGtccccaggccaaacagcaaa	8	14	0	1	rs149980670		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:33947401G>A	ENST00000296589.4	-	6	1381	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	SLC45A2_ENST00000382102.3_Missense_Mutation_p.T412M|SLC45A2_ENST00000342059.3_Missense_Mutation_p.T353M	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	412					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.T412M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AATAAATCCCGTCCCCAGGCC	0.488																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000382102.3																			1	Substitution - Missense(1)	p.T412M(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1234-1236)aCg>aTg		solute carrier family 45, member 2		G	MET/THR,MET/THR	0,4406		0,0,2203	146	147	147		1235,1235	5.6	1	5	dbSNP_134	147	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC45A2	NM_001012509.2,NM_016180.3	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	412/461,412/531	33947401	1,13005	2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33947401G>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.1235C>T	5.37:g.33947401G>A	ENSP00000296589:p.Thr412Met		Somatic				SLC45A2_ENST00000342059.3_Missense_Mutation_p.T353M|SLC45A2_ENST00000296589.4_Missense_Mutation_p.T412M	p.T412M	NM_001012509.2	NP_001012527.1	WXS	Illumina GAIIx	Phase_I	Q9UMX9	S45A2_HUMAN			6	1292	-			412					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.1235C>T	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988904	0.93106	0.0	1.16E-4	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.62	5.62	0.85841	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.91872	0.7427	L	0.39020	1.185	0.80722	D	1	D;P	0.89917	1.0;0.622	D;P	0.85130	0.997;0.466	D	0.86327	0.1696	10	0.02654	T	1	-12.7534	19.6445	0.95771	0.0:0.0:1.0:0.0	.	412;412	Q9UMX9-4;Q9UMX9	.;S45A2_HUMAN	M	412;353;412;237	ENSP00000296589:T412M;ENSP00000341014:T353M;ENSP00000371534:T412M;ENSP00000424010:T237M	ENSP00000296589:T412M	T	-	2	0	SLC45A2	33983158	1.000000	0.71417	0.958000	0.39756	0.964000	0.63967	9.519000	0.98025	2.646000	0.89796	0.655000	0.94253	ACG		0.488	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		8	182	0	0	0	1	0	8	182					A	33947401	G	A	33947401	3	1	57	1	0	0	0	0	1	0	0	0	14656	1145	40	1	380	1	SLC45A2	5	33947401	Missense_Mutation	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08	9409829	33947401	146967859	22	9743										
ARL15	54622	broad.mit.edu	37	chr5	53467719	53467719	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	aaccaggtcatattctggtcGtgcaggtggtggtcccttgc	13	10	2	0			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:53467719G>A	ENST00000504924.1	-	2	181	c.88C>T	c.(88-90)Cga>Tga	p.R30*	ARL15_ENST00000507646.2_Nonsense_Mutation_p.R30*|ARL15_ENST00000510591.2_5'UTR|ARL15_ENST00000502271.1_Intron	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	30					small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				TATTCTGGTCGTGCAGGTGGT	0.463																																						ENST00000504924.1																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(88-90)Cga>Tga		ADP-ribosylation factor-like 15							84	82	83					5																	53467719		1938	4134	6072	SO:0001587	stop_gained	54622						GTP binding	g.chr5:53467719G>A	BC026093	CCDS54850.1	5p15.2	2014-05-09	2005-11-03	2005-11-03		ENSG00000185305		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25945	protein-coding gene	gene with protein product			"ADP-ribosylation factor related protein 2"	ARFRP2		12477932	Standard	NM_019087		Approved	FLJ20051	uc003jpg.1	Q9NXU5		ENST00000504924.1:c.88C>T	5.37:g.53467719G>A	ENSP00000433427:p.Arg30*		Somatic				ARL15_ENST00000507646.2_Nonsense_Mutation_p.R30*|ARL15_ENST00000502271.1_Intron|ARL15_ENST00000510591.2_5'UTR	p.R30*	NM_019087.2	NP_061960.1	WXS	Illumina GAIIx	Phase_I	Q9NXU5	ARL15_HUMAN			2	181	-		Lung NSC(810;0.000779)	30					Q6IAD0	Nonsense_Mutation	SNP	ENST00000504924.1	37	c.88C>T	CCDS54850.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453444	0.96223	.	.	ENSG00000185305	ENST00000504924;ENST00000507646	.	.	.	5.93	4.08	0.47627	.	0.050874	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-10.3262	15.4986	0.75677	0.0:0.0:0.7482:0.2518	.	.	.	.	X	30	.	ENSP00000433427:R30X	R	-	1	2	ARL15	53503476	0.998000	0.40836	0.846000	0.33378	0.995000	0.86356	2.696000	0.47052	1.502000	0.48669	0.561000	0.74099	CGA		0.463	ARL15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368432.2	NM_019087		25	14	0	0	0	1	0	25	14					A	53467719	G	A	53467719	4	1	57	1	0	0	0	0	0	1	0	0	931	1153	40	1	542	1	ARL15	5	53467719	Nonsense_Mutation	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08	19520318	53467719	127447541	23	9744										
PIK3R1	5295	broad.mit.edu	37	chr5	67589632	67589643	+	In_Frame_Del	DEL	ATTATATGAAGA	ATTATATGAAGA	-													0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	aaaagtcgagaatatgatagAttatatgaagaatatacccg							TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:67589632_67589643delATTATATGAAGA	ENST00000521381.1	+	11	2011_2022	c.1395_1406delATTATATGAAGA	c.(1393-1407)agattatatgaagaa>aga	p.LYEE466del	PIK3R1_ENST00000336483.5_In_Frame_Del_p.LYEE196del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.LYEE466del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.LYEE166del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.LYEE466del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.LYEE103del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.LYEE466del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	466					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.Y463_L466del(1)|p.D434_Q475del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AATATGATAGATTATATGAAGAATATACCCGC	0.288			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"Mis, F, O"	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"			"E, O"			"gliobastoma, ovarian, colorectal"		4	Deletion - In frame(2)|Whole gene deletion(1)|Unknown(1)	p.Y463_L466del(1)|p.D434_Q475del(1)|p.0?(1)|p.?(1)	endometrium(2)|large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1393-1407)aga>ag		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589632_67589643delATTATATGAAGA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1395_1406delATTATATGAAGA	5.37:g.67589632_67589643delATTATATGAAGA	ENSP00000428056:p.Leu466_Glu469del	TCGA GBM(4;<1E-08)	Somatic				PIK3R1_ENST00000396611.1_In_Frame_Del_p.RLYEE465del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.RLYEE102del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.RLYEE195del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.RLYEE465del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.RLYEE165del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.RLYEE465del	p.RLYEE465del	NM_181523.2	NP_852664.1	WXS	Illumina GAIIx	Phase_I	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	2011_2022	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	465					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1395_1406delATTATATGAAGA	CCDS3993.1																																																																																				0.288	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		19	26						19	26	---	---	---	---	-	67589643	ATTATATGAAGA	-	67589632	7	5	57	1	0	1	0	1	0	0	0	0	11927	330	12	0	1563	0	PIK3R1	5	67589632	In_Frame_Del	DEL	ATTATATGAAGA	TCGA-QN-A5NN-01A-11D-A28R-08	14121913	67589632	113325628	24	9745										
FCHO2	115548	broad.mit.edu	37	chr5	72364497	72364497	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	cccaggccattcagcccaccTgtaacttccaacaccagccc	5	20	1	0			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:72364497T>G	ENST00000430046.2	+	19	1586	c.1470T>G	c.(1468-1470)ccT>ccG	p.P490P	FCHO2_ENST00000341845.6_Silent_p.P490P|FCHO2_ENST00000512348.1_Silent_p.P457P	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	490	Ser-rich.				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)			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)		TCAGCCCACCTGTAACTTCCA	0.413																																						ENST00000430046.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17						c.(1468-1470)ccT>ccG		FCH domain only 2							106	106	106					5																	72364497		1898	4118	6016	SO:0001819	synonymous_variant	115548							g.chr5:72364497T>G	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.1470T>G	5.37:g.72364497T>G			Somatic				FCHO2_ENST00000341845.6_Silent_p.P490P|FCHO2_ENST00000512348.1_Silent_p.P457P	p.P490P	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)	19	1586	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	490			Ser-rich.		A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Silent	SNP	ENST00000430046.2	37	c.1470T>G	CCDS47230.1																																																																																				0.413	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		38	23	0	0	0	1	0	38	23					G	72364497	T	G	72364497	2	3	57	1	0	0	0	0	0	0	0	1	5796	1567	55	4		4	FCHO2	5	72364497	Silent	SNP	T	TCGA-QN-A5NN-01A-11D-A28R-08	4774865	72364497	108550763	25	9746										
PCDHGA2	56113	broad.mit.edu	37	chr5	140718978	140718978	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	aaaaatcagtgaaaccactaCgccaggattccggattcctc	7	12	1	1	rs199543217		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:140718978C>T	ENST00000394576.2	+	1	440	c.440C>T	c.(439-441)aCg>aTg	p.T147M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	147	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(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)			GAAACCACTACGCCAGGATTC	0.453																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(439-441)aCg>aTg									70	71	71					5																	140718978		2203	4300	6503	SO:0001583	missense	0							g.chr5:140718978C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.440C>T	5.37:g.140718978C>T	ENSP00000378077:p.Thr147Met		Somatic				PCDHGA1_ENST00000517417.1_Intron	p.T147M	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	440	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.440C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	8.469	0.857177	0.17106	.	.	ENSG00000081853	ENST00000394576	T	0.52983	0.64	5.15	2.42	0.29668	Cadherin (3);Cadherin-like (1);	0.167338	0.28130	U	0.016490	T	0.31327	0.0793	L	0.33137	0.985	0.09310	N	1	B;P	0.39060	0.023;0.657	B;B	0.32583	0.064;0.148	T	0.12477	-1.0546	10	0.56958	D	0.05	.	9.1289	0.36833	0.0:0.699:0.0:0.301	.	147;147	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	M	147	ENSP00000378077:T147M	ENSP00000378077:T147M	T	+	2	0	PCDHGA2	140699162	0.000000	0.05858	0.199000	0.23439	0.734000	0.41952	-1.575000	0.02131	0.297000	0.22615	-0.140000	0.14226	ACG		0.453	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		72	57	0	0	0	1	0	72	57					T	140718978	C	T	140718978	3	4	57	1	0	0	0	0	1	0	0	0	11563	536	19	1	442	1	PCDHGA2	5	140718978	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	68354481	140718978	40196282	26	9747										
PGBD1	84547	broad.mit.edu	37	chr6	28264666	28264666	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	gtcacatctgagtctgactcGgaggaacctctgtgggaact	12	10	4	2	rs115946459		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:28264666G>C	ENST00000405948.2	+	5	1136	c.716G>C	c.(715-717)cGg>cCg	p.R239P	PGBD1_ENST00000259883.3_Missense_Mutation_p.R239P	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	239						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R239Q(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGTCTGACTCGGAGGAACCTC	0.507																																						ENST00000405948.2																			1	Substitution - Missense(1)	p.R239Q(1)	ovary(1)	endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(715-717)cGg>cCg		piggyBac transposable element derived 1							114	105	108					6																	28264666		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28264666G>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.716G>C	6.37:g.28264666G>C	ENSP00000385213:p.Arg239Pro		Somatic				PGBD1_ENST00000259883.3_Missense_Mutation_p.R239P	p.R239P	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	WXS	Illumina GAIIx	Phase_I	Q96JS3	PGBD1_HUMAN			5	1136	+			239					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.716G>C	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	7.186	0.590481	0.13812	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01406	4.93;4.93	4.01	-0.0146	0.13980	.	1.839010	0.03458	N	0.211816	T	0.00300	0.0009	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45234	-0.9275	10	0.30078	T	0.28	-20.8605	4.2593	0.10733	0.6877:0.2002:0.1121:0.0	.	239	Q96JS3	PGBD1_HUMAN	P	239	ENSP00000385213:R239P;ENSP00000259883:R239P	ENSP00000259883:R239P	R	+	2	0	PGBD1	28372645	0.000000	0.05858	0.068000	0.19968	0.833000	0.47200	-0.670000	0.05256	0.282000	0.22254	-0.436000	0.05848	CGG		0.507	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			15	83	0	0	0	1	0	15	83					C	28264666	G	C	28264666	3	2	57	1	0	0	0	0	1	0	0	0	11789	1116	39	5	730	5	PGBD1	6	28264666	Missense_Mutation	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08		28264666	142850401	27	9748										
HLA-DQA1	3117	broad.mit.edu	37	chr6	32610504	32610504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	cttcatcatccaaggcctgcGttcagttggtgcttccagac	9	13	3	1			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:32610504G>A	ENST00000343139.5	+	4	833	c.731G>A	c.(730-732)cGt>cAt	p.R244H	HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.R244H|HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.R244H	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	243					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)|membrane (GO:0016020)|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)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAAGGCCTGCGTTCAGTTGGT	0.537																																						ENST00000343139.5																			0				NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(730-732)cGt>cAt		major histocompatibility complex, class II, DQ alpha 1																																				SO:0001583	missense	3117				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.chr6:32610504G>A		CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.731G>A	6.37:g.32610504G>A	ENSP00000339398:p.Arg244His		Somatic				HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.R244H|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.R244H	p.R244H	NM_002122.3	NP_002113.2	WXS	Illumina GAIIx	Phase_I	P01909	DQA1_HUMAN			4	833	+			243					O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Missense_Mutation	SNP	ENST00000343139.5	37	c.731G>A	CCDS4752.1	.	.	.	.	.	.	.	.	.	.	.	8.378	0.836850	0.16891	.	.	ENSG00000196735	ENST00000343139;ENST00000395364;ENST00000395363;ENST00000374949	T;T;T	0.02085	4.46;4.46;4.46	4.08	4.08	0.47627	.	0.584335	0.14861	U	0.294094	T	0.01835	0.0058	M	0.83312	2.635	0.09310	N	1	B	0.21821	0.061	B	0.22386	0.039	T	0.27536	-1.0071	10	0.59425	D	0.04	.	7.8841	0.29640	0.111:0.0:0.889:0.0	.	244	G4XQK2	.	H	244	ENSP00000339398:R244H;ENSP00000378767:R244H;ENSP00000364087:R244H	ENSP00000339398:R244H	R	+	2	0	HLA-DQA1	32718482	0.923000	0.31300	0.127000	0.21898	0.200000	0.23975	1.636000	0.37144	2.282000	0.76494	0.643000	0.83706	CGT		0.537	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		65	122	0	0	0	1	0	65	122					A	32610504	G	A	32610504	3	1	57	1	0	0	0	0	1	0	0	0	7213	1145	40	1	745	1	HLA-DQA1	6	32610504	Missense_Mutation	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08	4345838	32610504	138504563	28	9749										
CRISP1	167	broad.mit.edu	37	chr6	49814267	49814267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	cagtagttatgtcatcatccGttgttgtccattctccatgt	7	10	3	0	rs139194307		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:49814267G>A	ENST00000335847.4	-	5	502	c.401C>T	c.(400-402)aCg>aTg	p.T134M	CRISP1_ENST00000507853.1_Missense_Mutation_p.T134M|CRISP1_ENST00000505118.1_Missense_Mutation_p.T134M|CRISP1_ENST00000355791.2_Missense_Mutation_p.T134M|CRISP1_ENST00000329411.5_Missense_Mutation_p.T134M|CRISP1_ENST00000536021.1_Missense_Mutation_p.T134M	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	134	SCP.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GTCATCATCCGTTGTTGTCCA	0.398													G|||	1	0.000199681	8e-04	0	5008	,	,		20949	0		0	False		,,,				2504	0					ENST00000335847.4																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27						c.(400-402)aCg>aTg		cysteine-rich secretory protein 1		G	MET/THR,MET/THR,MET/THR	4,4402	8.1+/-20.4	0,4,2199	435	342	374		401,401,401	-1.7	0	6	dbSNP_134	374	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	CRISP1	NM_001131.2,NM_001205220.1,NM_170609.1	81,81,81	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	benign,benign,benign	134/250,134/250,134/179	49814267	5,13001	2203	4300	6503	SO:0001583	missense	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49814267G>A	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"acidic epididymal glycoprotein-like 1"	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.401C>T	6.37:g.49814267G>A	ENSP00000338276:p.Thr134Met		Somatic				CRISP1_ENST00000505118.1_Missense_Mutation_p.T134M|CRISP1_ENST00000536021.1_Missense_Mutation_p.T134M|CRISP1_ENST00000355791.2_Missense_Mutation_p.T134M|CRISP1_ENST00000507853.1_Missense_Mutation_p.T134M|CRISP1_ENST00000329411.5_Missense_Mutation_p.T134M	p.T134M	NM_001131.2	NP_001122.2	WXS	Illumina GAIIx	Phase_I	P54107	CRIS1_HUMAN			5	502	-	Lung NSC(77;0.0358)		134					B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	c.401C>T	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407392	0.25378	9.08E-4	1.16E-4	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15;3.15	5.04	-1.68	0.08212	CAP domain (3);	0.423075	0.17524	N	0.171152	T	0.03053	0.0090	M	0.87269	2.87	0.09310	N	1	B;B	0.32829	0.161;0.386	B;B	0.25759	0.024;0.063	T	0.28332	-1.0047	9	.	.	.	.	1.6413	0.02753	0.3404:0.1558:0.3826:0.1212	.	134;134	P54107-2;P54107	.;CRIS1_HUMAN	M	134	ENSP00000425020:T134M;ENSP00000338276:T134M;ENSP00000348044:T134M;ENSP00000331317:T134M;ENSP00000427589:T134M;ENSP00000441798:T134M	.	T	-	2	0	CRISP1	49922226	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.721000	0.00811	-0.338000	0.08413	0.561000	0.74099	ACG		0.398	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		14	67	0	0	0	1	0	14	67					A	49814267	G	A	49814267	3	1	57	1	0	0	0	0	1	0	0	0	3881	1145	40	1	364	1	CRISP1	6	49814267	Missense_Mutation	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08	17203763	49814267	121300800	29	9750										
IMPG1	3617	broad.mit.edu	37	chr6	76712656	76712656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	aggtagaccatgctctgctcCgtccactgtctcaagctggg	11	13	2	1			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:76712656C>T	ENST00000369950.3	-	12	1459	c.1270G>A	c.(1270-1272)Gga>Aga	p.G424R	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)				TGCTCTGCTCCGTCCACTGTC	0.438																																					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.(1270-1272)Gga>Aga		interphotoreceptor matrix proteoglycan 1							128	110	116					6																	76712656		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76712656C>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1270G>A	6.37:g.76712656C>T	ENSP00000358966:p.Gly424Arg		Somatic				IMPG1_ENST00000369963.3_3'UTR	p.G424R	NM_001563.2	NP_001554.2	WXS	Illumina GAIIx	Phase_I	Q17R60	IMPG1_HUMAN			12	1459	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	424						Missense_Mutation	SNP	ENST00000369950.3	37	c.1270G>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	1.387	-0.581810	0.03854	.	.	ENSG00000112706	ENST00000369950	T	0.18338	2.22	5.14	-0.29	0.12847	.	0.866775	0.10359	N	0.684229	T	0.01061	0.0035	N	0.00483	-1.445	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.48536	-0.9027	10	0.13853	T	0.58	.	8.0882	0.30784	0.0:0.3226:0.0:0.6774	.	424	Q17R60	IMPG1_HUMAN	R	424	ENSP00000358966:G424R	ENSP00000358966:G424R	G	-	1	0	IMPG1	76769376	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.359000	0.20233	-0.003000	0.14444	-1.010000	0.02471	GGA		0.438	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		9	8	0	0	0	1	0	9	8					T	76712656	C	T	76712656	3	4	57	1	0	0	0	0	1	0	0	0	7737	661	23	1	1147	1	IMPG1	6	76712656	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	26898389	76712656	94402411	30	9751										
ROS1	6098	broad.mit.edu	37	chr6	117686852	117686852	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	gcatttccttcaatcctaaaTgaagactcttgaacagaatc	5	10	2	4			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:117686852T>A	ENST00000368508.3	-	19	3063	c.2865A>T	c.(2863-2865)tcA>tcT	p.S955S	ROS1_ENST00000368507.3_Silent_p.S950S|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	955	Fibronectin type-III 4. {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)		CAATCCTAAATGAAGACTCTT	0.388			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.(2863-2865)tcA>tcT		c-ros oncogene 1 , receptor tyrosine kinase							45	44	45					6																	117686852		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.chr6:117686852T>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.2865A>T	6.37:g.117686852T>A			Somatic				GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.S950S	p.S955S	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)	19	3063	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	955			Fibronectin type-III 4.		Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.2865A>T	CCDS5116.1																																																																																				0.388	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			21	4	0	0	0	1	0	21	4					A	117686852	T	A	117686852	2	1	57	1	0	0	0	0	0	0	0	1	13546	1451	51	4		4	ROS1	6	117686852	Silent	SNP	T	TCGA-QN-A5NN-01A-11D-A28R-08	40974196	117686852	53428215	31	9752										
CARD11	84433	broad.mit.edu	37	chr7	2962374	2962374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	aacgggacactctgcctctcGcctcggatgcagccttctag	10	15	3	0			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:2962374G>A	ENST00000396946.4	-	17	2566	c.2163C>T	c.(2161-2163)ggC>ggT	p.G721G		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	721	PDZ.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCTGCCTCTCGCCTCGGATGC	0.617			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.(2161-2163)ggC>ggT		caspase recruitment domain family, member 11							121	82	95					7																	2962374		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2962374G>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.2163C>T	7.37:g.2962374G>A			Somatic					p.G721G	NM_032415.4	NP_115791.3	WXS	Illumina GAIIx	Phase_I	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	17	2566	-		Ovarian(82;0.0115)	721			PDZ.		A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.2163C>T	CCDS5336.2																																																																																				0.617	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		21	45	0	0	0	1	0	21	45					A	2962374	G	A	2962374	2	1	57	1	0	0	0	0	0	0	0	1	2647	1074	38	1		1	CARD11	7	2962374	Silent	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08		2962374	156176289	32	9753										
ABCB5	340273	broad.mit.edu	37	chr7	20682948	20682948	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	tcagttttggcacaggacatCggctggtttgatagctgtga	13	7	1	2	rs548933985		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:20682948C>T	ENST00000404938.2	+	6	1108	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	152	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						CACAGGACATCGGCTGGTTTG	0.398																																						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.(454-456)atC>atT		ATP-binding cassette, sub-family B (MDR/TAP), member 5							88	82	83					7																	20682948		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.chr7:20682948C>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.456C>T	7.37:g.20682948C>T			Somatic					p.I152I	NM_001163941.1	NP_001157413.1	WXS	Illumina GAIIx	Phase_I	Q2M3G0	ABCB5_HUMAN			6	1108	+			336			ABC transporter 1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.456C>T	CCDS55090.1																																																																																				0.398	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		5	37	0	0	0	1	0	5	37					T	20682948	C	T	20682948	2	4	57	1	0	0	0	0	0	0	0	1	44	874	31	1		1	ABCB5	7	20682948	Silent	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	17720574	20682948	138455715	33	9754										
SND1	27044	broad.mit.edu	37	chr7	127721495	127721495	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	cgatctgctagctacaagccCgtgtttgtgactgagatcac	10	11	2	2			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:127721495C>T	ENST00000354725.3	+	18	2246	c.2052C>T	c.(2050-2052)ccC>ccT	p.P684P	MIR593_ENST00000384856.1_RNA	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	684					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						GCTACAAGCCCGTGTTTGTGA	0.597																																						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.(2050-2052)ccC>ccT		staphylococcal nuclease and tudor domain containing 1							157	106	124					7																	127721495		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:127721495C>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.2052C>T	7.37:g.127721495C>T			Somatic					p.P684P	NM_014390.2	NP_055205.2	WXS	Illumina GAIIx	Phase_I	Q7KZF4	SND1_HUMAN			18	2246	+			684					Q13122|Q96AG0	Silent	SNP	ENST00000354725.3	37	c.2052C>T	CCDS34747.1																																																																																				0.597	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		17	19	0	0	0	1	0	17	19					T	127721495	C	T	127721495	2	4	57	1	0	0	0	0	0	0	0	1	14859	639	23	1		1	SND1	7	127721495	Silent	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	107038547	127721495	31417168	34	9755										
ZNF862	643641	broad.mit.edu	37	chr7	149557897	149557897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	tcgttccagagatctccagcGacctcatggccaacatggag	10	13	2	1			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:149557897G>A	ENST00000223210.4	+	7	1893	c.1648G>A	c.(1648-1650)Gac>Aac	p.D550N	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	550					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						GATCTCCAGCGACCTCATGGC	0.512																																						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.(1648-1650)Gac>Aac		zinc finger protein 862							66	69	68					7																	149557897		2085	4216	6301	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149557897G>A	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"Zinc fingers, C2H2-type", "-"	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.1648G>A	7.37:g.149557897G>A	ENSP00000223210:p.Asp550Asn		Somatic					p.D550N	NM_001099220.1	NP_001092690.1	WXS	Illumina GAIIx	Phase_I	O60290	ZN862_HUMAN			7	1893	+			550					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.1648G>A	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667248	0.67814	.	.	ENSG00000106479	ENST00000223210	T	0.01076	5.37	4.98	4.98	0.66077	.	0.217321	0.32147	N	0.006519	T	0.02533	0.0077	M	0.76328	2.33	0.29412	N	0.861153	D	0.52996	0.957	B	0.43155	0.41	T	0.28933	-1.0028	10	0.42905	T	0.14	-31.0478	13.7753	0.63050	0.0:0.0:1.0:0.0	.	550	O60290	ZN862_HUMAN	N	550	ENSP00000223210:D550N	ENSP00000223210:D550N	D	+	1	0	ZNF862	149188830	1.000000	0.71417	0.981000	0.43875	0.973000	0.67179	3.908000	0.56355	2.320000	0.78422	0.655000	0.94253	GAC		0.512	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		34	43	0	0	0	1	0	34	43					A	149557897	G	A	149557897	3	1	57	1	0	0	0	0	1	0	0	0	18210	1058	37	1	1674	1	ZNF862	7	149557897	Missense_Mutation	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08	21836402	149557897	9580766	35	9756										
ABP1	26	broad.mit.edu	37	chr7	150558050	150558050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	ggacctggtggcctgggtgaCggtgggcttcctgcacatcc	16	12	0	1	rs368330728		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:150558050C>T	ENST00000493429.1	+	7	2593	c.2009C>T	c.(2008-2010)aCg>aTg	p.T670M	AOC1_ENST00000416793.2_Missense_Mutation_p.T689M|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.T670M|AOC1_ENST00000467291.1_Missense_Mutation_p.T670M			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	670					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)	GCCTGGGTGACGGTGGGCTTC	0.602																																						ENST00000493429.1																			0											c.(2008-2010)aCg>aTg		amine oxidase, copper containing 1		C	MET/THR	0,4070		0,0,2035	56	64	62		2009	5	0.9	7		62	1,8381		0,1,4190	no	missense	ABP1	NM_001091.2	81	0,1,6225	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	670/752	150558050	1,12451	2035	4191	6226	SO:0001583	missense	26							g.chr7:150558050C>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.2009C>T	7.37:g.150558050C>T	ENSP00000418614:p.Thr670Met		Somatic				AOC1_ENST00000360937.4_Missense_Mutation_p.T670M|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000416793.2_Missense_Mutation_p.T689M|AOC1_ENST00000467291.1_Missense_Mutation_p.T670M	p.T670M			WXS	Illumina GAIIx	Phase_I					7	2593	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.2009C>T	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438104	0.83885	0.0	1.19E-4	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.06218	3.33;3.33;3.33;3.33	5.01	5.01	0.66863	Copper amine oxidase, C-terminal (3);	0.672998	0.15143	N	0.278144	T	0.34221	0.0890	M	0.91818	3.245	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.30736	-0.9968	10	0.87932	D	0	-53.4982	15.8232	0.78676	0.0:1.0:0.0:0.0	.	689;670	C9J690;P19801	.;ABP1_HUMAN	M	670;670;670;689;546	ENSP00000418614:T670M;ENSP00000418328:T670M;ENSP00000354193:T670M;ENSP00000411613:T689M	ENSP00000354193:T670M	T	+	2	0	ABP1	150188983	1.000000	0.71417	0.898000	0.35279	0.957000	0.61999	7.367000	0.79558	2.323000	0.78572	0.484000	0.47621	ACG		0.602	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		33	35	0	0	0	1	0	33	35					T	150558050	C	T	150558050	3	4	57	1	0	0	0	0	1	0	0	0	98	536	19	1	2023	1	ABP1	7	150558050	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	1000153	150558050	8580613	36	9757										
DLGAP2	9228	broad.mit.edu	37	chr8	1616711	1616711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	caacaaggccatgaacctcgCgctggaaacggccgctgccc	11	16	0	1			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:1616711C>T	ENST00000421627.2	+	6	1921	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	675					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)		ATGAACCTCGCGCTGGAAACG	0.672																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(1786-1788)gCg>gTg		discs, large (Drosophila) homolog-associated protein 2							15	20	19					8																	1616711		2099	4194	6293	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1616711C>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.1787C>T	8.37:g.1616711C>T	ENSP00000400258:p.Ala596Val		Somatic					p.A596V	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	1921	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	675					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.1787C>T	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.012908|4.012908	0.75161|0.75161	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.15952|.	2.38|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75295|0.75295	0.3830|0.3830	M|M	0.68317|0.68317	2.08|2.08	0.53688|0.53688	D|D	0.999979|0.999979	D;D|.	0.89917|.	0.994;1.0|.	P;D|.	0.85130|.	0.8;0.997|.	T|T	0.73379|0.73379	-0.4001|-0.4001	10|5	0.54805|.	T|.	0.06|.	-10.2023|-10.2023	19.4384|19.4384	0.94807|0.94807	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	675;675|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	V|C	641;596|613	ENSP00000400258:A596V|.	ENSP00000348366:A641V|.	A|R	+|+	2|1	0|0	DLGAP2|DLGAP2	1604118|1604118	1.000000|1.000000	0.71417|0.71417	0.460000|0.460000	0.27093|0.27093	0.203000|0.203000	0.24098|0.24098	7.404000|7.404000	0.79996|0.79996	2.589000|2.589000	0.87451|0.87451	0.650000|0.650000	0.86243|0.86243	GCG|CGC		0.672	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		11	10	0	0	0	1	0	11	10					T	1616711	C	T	1616711	3	4	57	1	0	0	0	0	1	0	0	0	4562	768	27	1	1805	1	DLGAP2	8	1616711	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08		1616711	144747311	37	9758										
NEFM	4741	broad.mit.edu	37	chr8	24771770	24771770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	cgcgtacgaccaggagatccGcgagctgcgcgccaccctgg	14	16	0	1			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:24771770G>A	ENST00000221166.5	+	1	1246	c.464G>A	c.(463-465)cGc>cAc	p.R155H	NEFM_ENST00000521540.1_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.R155H|NEFM_ENST00000433454.2_5'Flank|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Missense_Mutation_p.R155H			P07197	NFM_HUMAN	neurofilament, medium polypeptide	155	Coil 1B.|Rod.				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)		CAGGAGATCCGCGAGCTGCGC	0.652																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(463-465)cGc>cAc		neurofilament, medium polypeptide							25	28	27					8																	24771770		2200	4299	6499	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24771770G>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.464G>A	8.37:g.24771770G>A	ENSP00000221166:p.Arg155His		Somatic				NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.R155H|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Missense_Mutation_p.R155H	p.R155H			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)	1	1246	+		Prostate(55;0.157)	155			Coil 1B.|Rod.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.464G>A	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168187	0.78339	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.82984	-1.67;-1.67;-1.67	4.76	4.76	0.60689	Filament (1);	0.000000	0.46442	D	0.000292	D	0.87985	0.6316	L	0.49778	1.585	0.50813	D	0.99989	P;D	0.76494	0.951;0.999	P;P	0.62491	0.701;0.903	D	0.89496	0.3760	10	0.87932	D	0	.	18.1311	0.89602	0.0:0.0:1.0:0.0	.	155;155	E7EMV2;P07197	.;NFM_HUMAN	H	155	ENSP00000221166:R155H;ENSP00000427872:R155H;ENSP00000410137:R155H	ENSP00000221166:R155H	R	+	2	0	NEFM	24827675	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	4.523000	0.60545	2.340000	0.79590	0.467000	0.42956	CGC		0.652	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		20	9	0	0	0	1	0	20	9					A	24771770	G	A	24771770	3	1	57	1	0	0	0	0	1	0	0	0	10325	1087	38	1	466	1	NEFM	8	24771770	Missense_Mutation	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08	23155059	24771770	121592252	38	9759										
STMN4	81551	broad.mit.edu	37	chr8	27099994	27099994	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	acaccagcgggagctccttcAtcttctctttgtaggctgcg	10	13	3	0			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:27099994A>G	ENST00000265770.7	-	3	165	c.29T>C	c.(28-30)aTg>aCg	p.M10T	STMN4_ENST00000522908.1_Missense_Mutation_p.M10T|STMN4_ENST00000350889.4_Missense_Mutation_p.M10T|STMN4_ENST00000519997.1_Start_Codon_SNP_p.M1T|STMN4_ENST00000519614.1_Missense_Mutation_p.M10T|STMN4_ENST00000523048.1_Missense_Mutation_p.M10T			Q9H169	STMN4_HUMAN	stathmin-like 4	10					regulation of microtubule polymerization or depolymerization (GO:0031110)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	Lomustine(DB01206)	GAGCTCCTTCATCTTCTCTTT	0.572																																						ENST00000350889.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11						c.(28-30)aTg>aCg		stathmin-like 4							89	84	86					8																	27099994		2203	4300	6503	SO:0001583	missense	81551				intracellular signal transduction			g.chr8:27099994A>G		CCDS6055.1, CCDS64851.1, CCDS64852.1, CCDS64854.1	8p21.2	2006-12-09			ENSG00000015592	ENSG00000015592			16078	protein-coding gene	gene with protein product						11230166	Standard	NM_001283054		Approved	RB3	uc003xfj.3	Q9H169	OTTHUMG00000099461	ENST00000265770.7:c.29T>C	8.37:g.27099994A>G	ENSP00000265770:p.Met10Thr		Somatic				STMN4_ENST00000522908.1_Missense_Mutation_p.M10T|STMN4_ENST00000265770.7_Missense_Mutation_p.M10T|STMN4_ENST00000523048.1_Missense_Mutation_p.M10T|STMN4_ENST00000519614.1_Missense_Mutation_p.M10T|STMN4_ENST00000519997.1_Start_Codon_SNP_p.M1T	p.M10T	NM_030795.2	NP_110422.2	WXS	Illumina GAIIx	Phase_I	Q9H169	STMN4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	3	142	-		Ovarian(32;0.00167)	10					B7Z2Z7|B7Z4I9|D3DSS8|D3DSS9|G5EA16|Q2TAB9	Missense_Mutation	SNP	ENST00000265770.7	37	c.29T>C		.	.	.	.	.	.	.	.	.	.	A	15.95	2.983663	0.53827	.	.	ENSG00000015592	ENST00000350889;ENST00000519997;ENST00000265770;ENST00000523048;ENST00000519614;ENST00000522908	.	.	.	5.03	5.03	0.67393	.	0.050900	0.85682	D	0.000000	T	0.55386	0.1917	M	0.61703	1.905	0.52099	D	0.999941	B;B;B;P;B;B	0.44734	0.364;0.018;0.257;0.842;0.023;0.257	B;B;B;B;B;B	0.40165	0.077;0.005;0.074;0.321;0.005;0.074	T	0.63673	-0.6584	9	0.87932	D	0	-1.3176	13.0283	0.58827	1.0:0.0:0.0:0.0	.	10;1;10;10;10;10	E7EVN3;B7Z2Z7;G5EA16;E5RIR6;Q9H169;Q9H169-2	.;.;.;.;STMN4_HUMAN;.	T	10;1;10;10;10;10	.	ENSP00000265770:M10T	M	-	2	0	STMN4	27155911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.061000	0.93913	2.241000	0.73720	0.533000	0.62120	ATG		0.572	STMN4-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000375941.1	NM_030795		15	14	0	0	0	1	0	15	14					G	27099994	A	G	27099994	3	3	57	1	0	0	0	0	1	0	0	0	15326	217	8	4	641	4	STMN4	8	27099994	Missense_Mutation	SNP	A	TCGA-QN-A5NN-01A-11D-A28R-08	2328224	27099994	119264028	39	9760										
LRRCC1	85444	broad.mit.edu	37	chr8	86025226	86025226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	atattgatctacatagtaatCgtatagatagtatccatcac	5	7	2	2			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:86025226C>T	ENST00000360375.3	+	4	585	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	LRRCC1_ENST00000414626.2_Missense_Mutation_p.R126C	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	146					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ACATAGTAATCGTATAGATAG	0.358																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(376-378)Cgt>Tgt		leucine rich repeat and coiled-coil centrosomal protein 1							122	116	118					8																	86025226		1867	4096	5963	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86025226C>T	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.436C>T	8.37:g.86025226C>T	ENSP00000353538:p.Arg146Cys		Somatic				LRRCC1_ENST00000360375.3_Missense_Mutation_p.R146C	p.R126C			WXS	Illumina GAIIx	Phase_I	Q9C099	LRCC1_HUMAN			3	1265	+			146					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.376C>T	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008315	0.35415	.	.	ENSG00000133739	ENST00000426019;ENST00000360375;ENST00000414626	T;T	0.25085	1.82;1.82	5.81	4.66	0.58398	.	0.530965	0.16055	N	0.231793	T	0.09069	0.0224	N	0.00661	-1.28	0.35905	D	0.830678	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.12863	-1.0531	10	0.37606	T	0.19	-0.0247	12.0476	0.53489	0.0:0.0677:0.0:0.9323	.	126;53;146	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	C	53;146;126	ENSP00000353538:R146C;ENSP00000394695:R126C	ENSP00000353538:R146C	R	+	1	0	LRRCC1	86212478	0.997000	0.39634	0.995000	0.50966	0.967000	0.64934	2.172000	0.42463	1.021000	0.39600	-0.383000	0.06682	CGT		0.358	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		33	25	0	0	0	1	0	33	25					T	86025226	C	T	86025226	3	4	57	1	0	0	0	0	1	0	0	0	9035	884	31	1	450	1	LRRCC1	8	86025226	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	58925232	86025226	60338796	40	9761										
COL14A1	7373	broad.mit.edu	37	chr8	121238999	121238999	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	ccagtctatggggggaagacTgaggaggtgagttttctgaa	16	5	2	4	rs544685240		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:121238999T>A	ENST00000297848.3	+	16	2268	c.1998T>A	c.(1996-1998)acT>acA	p.T666T	COL14A1_ENST00000309791.4_Silent_p.T666T|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.T571T	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)			GGGGGAAGACTGAGGAGGTGA	0.438																																						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.(1996-1998)acT>acA		collagen, type XIV, alpha 1							69	63	65					8																	121238999		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.chr8:121238999T>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1998T>A	8.37:g.121238999T>A			Somatic				COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Silent_p.T571T|COL14A1_ENST00000309791.4_Silent_p.T666T|COL14A1_ENST00000432943.2_3'UTR	p.T666T	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)		16	2268	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		666			Fibronectin type-III 5.			Silent	SNP	ENST00000297848.3	37	c.1998T>A	CCDS34938.1																																																																																				0.438	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		6	48	0	0	0	1	0	6	48					A	121238999	T	A	121238999	2	1	57	1	0	0	0	0	0	0	0	1	3673	1567	55	4		4	COL14A1	8	121238999	Silent	SNP	T	TCGA-QN-A5NN-01A-11D-A28R-08	35213773	121238999	25125023	41	9762										
MTBP	27085	broad.mit.edu	37	chr8	121535576	121535576	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	gaaaagacaagcaagaaatgAtacataatcattctctttaa	5	6	2	3			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:121535576A>G	ENST00000305949.1	+	22	2760	c.2715A>G	c.(2713-2715)tgA>tgG	p.*905W		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	0					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)			GCAAGAAATGATACATAATCA	0.269																																						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.(2713-2715)tgA>tgG		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							87	93	91					8																	121535576		2190	4251	6441	SO:0001578	stop_lost	27085				cell cycle arrest			g.chr8:121535576A>G		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.2715A>G	8.37:g.121535576A>G	ENSP00000303398:p.*905Trpext*31		Somatic					p.*905W	NM_022045.3	NP_071328.2	WXS	Illumina GAIIx	Phase_I	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		22	2760	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		0					B4DUR5|Q9HA89	Nonstop_Mutation	SNP	ENST00000305949.1	37	c.2715A>G	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.064482	0.36470	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.55	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7435	0.46166	0.9237:0.0:0.0763:0.0	.	.	.	.	W	905	.	.	X	+	3	0	MTBP	121604757	0.323000	0.24643	0.425000	0.26659	0.559000	0.35586	3.304000	0.51866	0.918000	0.36919	0.533000	0.62120	TGA		0.269	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		21	110	0	0	0	1	0	21	110					G	121535576	A	G	121535576	4	3	57	1	0	0	0	0	0	0	0	0	9921	346	12	4	2801	4	MTBP	8	121535576	Nonstop_Mutation	SNP	A	TCGA-QN-A5NN-01A-11D-A28R-08	296577	121535576	24828446	42	9763										
KCNK9	51305	broad.mit.edu	37	chr8	140630989	140630989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	gagcggcttcttctgcagggCacccttggtctgcagggcca	14	13	3	0			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:140630989C>T	ENST00000520439.1	-	2	700	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	KCNK9_ENST00000303015.1_Missense_Mutation_p.A213T|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	213					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	TTCTGCAGGGCACCCTTGGTC	0.567																																						ENST00000520439.1																			0				NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43						c.(637-639)Gcc>Acc		potassium channel, subfamily K, member 9							61	65	64					8																	140630989		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140630989C>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.637G>A	8.37:g.140630989C>T	ENSP00000430676:p.Ala213Thr		Somatic				KCNK9_ENST00000303015.1_Missense_Mutation_p.A213T	p.A213T			WXS	Illumina GAIIx	Phase_I	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	700	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	213					Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.637G>A	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534724	0.64972	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.17054	2.3;2.3;2.3	5.85	5.85	0.93711	Ion transport 2 (1);	0.246767	0.36101	N	0.002790	T	0.23094	0.0558	L	0.28192	0.835	0.80722	D	1	P	0.45634	0.863	P	0.50049	0.629	T	0.00341	-1.1804	10	0.46703	T	0.11	.	19.1531	0.93496	0.0:1.0:0.0:0.0	.	213	Q9NPC2	KCNK9_HUMAN	T	213	ENSP00000429847:A213T;ENSP00000302166:A213T;ENSP00000430676:A213T	ENSP00000302166:A213T	A	-	1	0	KCNK9	140700171	1.000000	0.71417	0.754000	0.31244	0.110000	0.19582	7.635000	0.83286	2.753000	0.94483	0.655000	0.94253	GCC		0.567	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		26	159	0	0	0	1	0	26	159					T	140630989	C	T	140630989	3	4	57	1	0	0	0	0	1	0	0	0	8081	710	25	3	491	3	KCNK9	8	140630989	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	19095413	140630989	5733033	43	9764										
PLEC	5339	broad.mit.edu	37	chr8	145006361	145006361	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	tccccagcattttggagctcCttgatcttcttctccttcag	6	14	4	1			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:145006361C>G	ENST00000322810.4	-	17	2599	c.2430G>C	c.(2428-2430)aaG>aaC	p.K810N	PLEC_ENST00000357649.2_Missense_Mutation_p.K677N|PLEC_ENST00000354958.2_Missense_Mutation_p.K651N|PLEC_ENST00000356346.3_Missense_Mutation_p.K659N|PLEC_ENST00000436759.2_Missense_Mutation_p.K700N|PLEC_ENST00000354589.3_Missense_Mutation_p.K673N|PLEC_ENST00000398774.2_Missense_Mutation_p.K641N|PLEC_ENST00000345136.3_Missense_Mutation_p.K673N|PLEC_ENST00000527096.1_Missense_Mutation_p.K696N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	810	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						TTTGGAGCTCCTTGATCTTCT	0.711																																						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.(2428-2430)aaG>aaC		plectin							24	27	26					8																	145006361		1937	4103	6040	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.chr8:145006361C>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.2430G>C	8.37:g.145006361C>G	ENSP00000323856:p.Lys810Asn		Somatic				PLEC_ENST00000527096.1_Missense_Mutation_p.K696N|PLEC_ENST00000354958.2_Missense_Mutation_p.K651N|PLEC_ENST00000354589.3_Missense_Mutation_p.K673N|PLEC_ENST00000436759.2_Missense_Mutation_p.K700N|PLEC_ENST00000345136.3_Missense_Mutation_p.K673N|PLEC_ENST00000356346.3_Missense_Mutation_p.K659N|PLEC_ENST00000357649.2_Missense_Mutation_p.K677N|PLEC_ENST00000398774.2_Missense_Mutation_p.K641N	p.K810N	NM_201380.2	NP_958782.1	WXS	Illumina GAIIx	Phase_I	Q15149	PLEC_HUMAN			17	2599	-			810			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.2430G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375951	0.24857	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21	4.2	-0.0265	0.13930	.	0.169589	0.35096	U	0.003447	T	0.76716	0.4026	N	0.02296	-0.605	0.37134	D	0.901402	B;B;B;B;B;B;B;B	0.13594	0.005;0.005;0.005;0.003;0.005;0.008;0.005;0.005	B;B;B;B;B;B;B;B	0.09377	0.004;0.004;0.004;0.002;0.004;0.004;0.004;0.004	T	0.66240	-0.5973	10	0.06891	T	0.86	.	8.4305	0.32755	0.0:0.6072:0.0:0.3928	.	700;659;651;810;641;673;677;673	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	673;677;673;641;810;651;659;700;696	ENSP00000344848:K673N;ENSP00000350277:K677N;ENSP00000346602:K673N;ENSP00000381756:K641N;ENSP00000323856:K810N;ENSP00000347044:K651N;ENSP00000348702:K659N;ENSP00000388180:K700N;ENSP00000434583:K696N	ENSP00000323856:K810N	K	-	3	2	PLEC	145078349	0.410000	0.25376	0.993000	0.49108	0.558000	0.35554	0.197000	0.17197	0.060000	0.16281	0.453000	0.30009	AAG		0.711	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		44	29	0	0	0	1	0	44	29					G	145006361	C	G	145006361	3	3	57	1	0	0	0	0	1	0	0	0	12061	680	24	5	11688	5	PLEC	8	145006361	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	4375372	145006361	1357661	44	9765										
AKR1C3	8644	broad.mit.edu	37	chr10	5141029	5141029	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	tcaccaacagatgaaaatggAaaagtaatatttgacatagt	7	5	1	3			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:5141029A>G	ENST00000380554.3	+	4	1057	c.405A>G	c.(403-405)ggA>ggG	p.G135G	AKR1C3_ENST00000439082.2_Silent_p.G16G|AKR1C3_ENST00000605149.1_Silent_p.G112G	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	135					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	ATGAAAATGGAAAAGTAATAT	0.413																																						ENST00000380554.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14						c.(403-405)ggA>ggG		aldo-keto reductase family 1, member C3	Dimethyl sulfoxide(DB01093)|NADH(DB00157)						87	85	85					10																	5141029		2203	4300	6503	SO:0001819	synonymous_variant	8644				prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5141029A>G	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"Aldo-keto reductases"	386	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase X", "prostaglandin F synthase", "3-alpha hydroxysteroid dehydrogenase, type II"	603966	"hydroxysteroid (17-beta) dehydrogenase 5", "aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.405A>G	10.37:g.5141029A>G			Somatic				AKR1C3_ENST00000439082.2_Silent_p.G16G|AKR1C3_ENST00000605149.1_Silent_p.G112G	p.G135G	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	WXS	Illumina GAIIx	Phase_I	P42330	AK1C3_HUMAN			4	1057	+			135					A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Silent	SNP	ENST00000380554.3	37	c.405A>G	CCDS7063.1																																																																																				0.413	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739		8	13	0	0	0	1	0	8	13					G	5141029	A	G	5141029	2	3	57	1	0	0	0	0	0	0	0	1	471	233	9	4		4	AKR1C3	10	5141029	Silent	SNP	A	TCGA-QN-A5NN-01A-11D-A28R-08		5141029	130393718	45	9766										
CDHR1	92211	broad.mit.edu	37	chr10	85972083	85972083	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	aggtgtttatcacactgctgGatgtcaatgaccacccccct	8	13	2	1			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:85972083G>T	ENST00000372117.3	+	15	1805	c.1702G>T	c.(1702-1704)Gat>Tat	p.D568Y	CDHR1_ENST00000332904.3_Missense_Mutation_p.D568Y|CDHR1_ENST00000440770.2_Missense_Mutation_p.D272Y	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	568	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CACACTGCTGGATGTCAATGA	0.517																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1702-1704)Gat>Tat		cadherin-related family member 1							175	153	161					10																	85972083		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972083G>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1702G>T	10.37:g.85972083G>T	ENSP00000361189:p.Asp568Tyr		Somatic				CDHR1_ENST00000440770.2_Missense_Mutation_p.D272Y|CDHR1_ENST00000332904.3_Missense_Mutation_p.D568Y	p.D568Y	NM_033100.2	NP_149091.1	WXS	Illumina GAIIx	Phase_I	Q96JP9	CDHR1_HUMAN			15	1805	+			568			Cadherin 5.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.1702G>T	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107113	0.56291	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.71698	-0.29;-0.29;-0.59	4.9	4.9	0.64082	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90823	0.7118	H	0.98833	4.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.982	D	0.94599	0.7794	10	0.87932	D	0	-11.0599	17.2	0.86903	0.0:0.0:1.0:0.0	.	272;568;568	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	Y	568;568;272	ENSP00000331063:D568Y;ENSP00000361189:D568Y;ENSP00000415980:D272Y	ENSP00000331063:D568Y	D	+	1	0	CDHR1	85962063	1.000000	0.71417	0.955000	0.39395	0.071000	0.16799	9.349000	0.97066	2.441000	0.82636	0.655000	0.94253	GAT		0.517	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		46	95	1	0	4.01344e-20	1	4.35868e-20	46	95					T	85972083	G	T	85972083	3	4	57	1	0	0	0	0	1	0	0	0	3120	1174	41	2	1760	2	CDHR1	10	85972083	Missense_Mutation	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08	80831054	85972083	49562664	46	9767										
PKD2L1	9033	broad.mit.edu	37	chr10	102054719	102054719	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	atgcacttgatgaaagtgctAaagttttccacttgggtccc	9	9	0	2			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:102054719A>G	ENST00000318222.3	-	8	1900	c.1518T>C	c.(1516-1518)ttT>ttC	p.F506F	PKD2L1_ENST00000353274.3_Silent_p.F506F|PKD2L1_ENST00000338519.3_Silent_p.F431F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	506					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)		TGAAAGTGCTAAAGTTTTCCA	0.542																																						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.(1516-1518)ttT>ttC		polycystic kidney disease 2-like 1							126	123	124					10																	102054719		2203	4300	6503	SO:0001819	synonymous_variant	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102054719A>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.1518T>C	10.37:g.102054719A>G			Somatic				PKD2L1_ENST00000353274.3_Silent_p.F506F|PKD2L1_ENST00000338519.3_Silent_p.F431F	p.F506F	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)	8	1900	-		Colorectal(252;0.117)	506					O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	c.1518T>C	CCDS7492.1																																																																																				0.542	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		13	32	0	0	0	1	0	13	32					G	102054719	A	G	102054719	2	3	57	1	0	0	0	0	0	0	0	1	11976	359	13	4		4	PKD2L1	10	102054719	Silent	SNP	A	TCGA-QN-A5NN-01A-11D-A28R-08	16082636	102054719	33480028	47	9768										
PDZD7	79955	broad.mit.edu	37	chr10	102783751	102783751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	atgctctgagcccccgcgcaCgctgaagcccagcctccctg	10	19	1	2			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:102783751C>T	ENST00000370215.3	-	3	526	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	PDZD7_ENST00000470414.1_Missense_Mutation_p.V101M	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	101	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCCCCGCGCACGCTGAAGCCC	0.582																																						ENST00000370215.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(301-303)Gtg>Atg		PDZ domain containing 7							98	89	92					10																	102783751		2203	4300	6503	SO:0001583	missense	79955					cilium|nucleus	protein binding	g.chr10:102783751C>T	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.301G>A	10.37:g.102783751C>T	ENSP00000359234:p.Val101Met		Somatic				PDZD7_ENST00000470414.1_Missense_Mutation_p.V101M	p.V101M	NM_024895.4	NP_079171.1	WXS	Illumina GAIIx	Phase_I	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	3	526	-			101			PDZ 1.		D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	c.301G>A	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435121	0.83885	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.20881	2.04	5.07	5.07	0.68467	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.37056	-0.9722	10	0.40728	T	0.16	.	18.8027	0.92025	0.0:1.0:0.0:0.0	.	101;101	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	M	101	ENSP00000359234:V101M	ENSP00000359234:V101M	V	-	1	0	PDZD7	102773741	1.000000	0.71417	0.993000	0.49108	0.741000	0.42261	7.675000	0.84002	2.498000	0.84270	0.491000	0.48974	GTG		0.582	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		6	92	0	0	0	1	0	6	92					T	102783751	C	T	102783751	3	4	57	1	0	0	0	0	1	0	0	0	11713	536	19	1	1284	1	PDZD7	10	102783751	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	729032	102783751	32750996	48	9769										
DCHS1	8642	broad.mit.edu	37	chr11	6643541	6643541	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	ggtgcagggctcaggccacaGccccccaggaaggctgtggc	16	14	1	0			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:6643541G>T	ENST00000299441.3	-	21	9777	c.9366C>A	c.(9364-9366)ggC>ggA	p.G3122G	RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000534644.1_5'Flank|TPP1_ENST00000299427.6_5'Flank|TPP1_ENST00000528657.1_5'Flank|TPP1_ENST00000533371.1_5'Flank	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3122					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)		TCAGGCCACAGCCCCCCAGGA	0.662																																						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.(9364-9366)ggC>ggA		dachsous cadherin-related 1							10	12	11					11																	6643541		2198	4286	6484	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6643541G>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9366C>A	11.37:g.6643541G>T			Somatic				RP11-732A19.5_ENST00000526456.1_RNA	p.G3122G	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	9777	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	3122					O15098	Silent	SNP	ENST00000299441.3	37	c.9366C>A	CCDS7771.1																																																																																				0.662	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		6	5	1	0	2.0095e-06	1	2.02959e-06	6	5					T	6643541	G	T	6643541	2	4	57	1	0	0	0	0	0	0	0	1	4289	958	34	5		5	DCHS1	11	6643541	Silent	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08		6643541	128362975	49	9770										
OR5I1	10798	broad.mit.edu	37	chr11	55703549	55703549	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	gatgaaggattctgtatctgCaaaagtacagaaaaaataaa	8	4	2	2			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:55703549C>A	ENST00000301532.3	-	1	327	c.328G>T	c.(328-330)Gca>Tca	p.A110S		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	110					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)			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						TCTGTATCTGCAAAAGTACAG	0.438																																						ENST00000301532.3																			0				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.(328-330)Gca>Tca		olfactory receptor, family 5, subfamily I, member 1							42	44	44					11																	55703549		2201	4293	6494	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703549C>A	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.328G>T	11.37:g.55703549C>A	ENSP00000301532:p.Ala110Ser		Somatic					p.A110S	NM_006637.1	NP_006628.1	WXS	Illumina GAIIx	Phase_I	Q13606	OR5I1_HUMAN			1	327	-			110					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.328G>T	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395260	0.42512	.	.	ENSG00000167825	ENST00000301532	T	0.00392	7.58	4.84	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000248	T	0.00468	0.0015	L	0.33710	1.025	0.28196	N	0.927556	D	0.69078	0.997	D	0.75020	0.985	T	0.57260	-0.7842	10	0.45353	T	0.12	.	7.8045	0.29193	0.0:0.8083:0.0:0.1917	.	110	Q13606	OR5I1_HUMAN	S	110	ENSP00000301532:A110S	ENSP00000301532:A110S	A	-	1	0	OR5I1	55460125	0.000000	0.05858	0.967000	0.41034	0.054000	0.15201	0.825000	0.27393	1.155000	0.42497	0.637000	0.83480	GCA		0.438	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		9	22	1	0	3.09899e-07	1	3.16159e-07	9	22					A	55703549	C	A	55703549	3	1	57	1	0	0	0	0	1	0	0	0	11173	710	25	5	619	5	OR5I1	11	55703549	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	49060008	55703549	79302967	50	9771										
DAK	26007	broad.mit.edu	37	chr11	61105561	61105561	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	cctcaagggccgggtggcacTgctgtcgggtgggggctctg	19	11	2	0			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:61105561T>G	ENST00000394900.3	+	3	381	c.152T>G	c.(151-153)cTg>cGg	p.L51R	DAK_ENST00000530057.1_3'UTR	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	51	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						CGGGTGGCACTGCTGTCGGGT	0.687																																						ENST00000394900.3																			0				NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(151-153)cTg>cGg		dihydroxyacetone kinase 2 homolog (S. cerevisiae)							31	36	34					11																	61105561		2203	4298	6501	SO:0001583	missense	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61105561T>G		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.152T>G	11.37:g.61105561T>G	ENSP00000378360:p.Leu51Arg		Somatic				DAK_ENST00000530057.1_3'UTR	p.L51R	NM_015533.3	NP_056348.2	WXS	Illumina GAIIx	Phase_I	Q3LXA3	DHAK_HUMAN			3	381	+			51			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	c.152T>G	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.498296	0.85069	.	.	ENSG00000149476	ENST00000394900;ENST00000532173;ENST00000524968;ENST00000529479	T;T;T	0.40225	1.04;1.06;1.04	5.9	5.9	0.94986	Dak kinase (2);	0.069717	0.64402	D	0.000016	T	0.73869	0.3642	M	0.93283	3.4	0.54753	D	0.999986	D	0.89917	1.0	D	0.83275	0.996	T	0.81468	-0.0919	10	0.87932	D	0	-4.9917	16.055	0.80794	0.0:0.0:0.0:1.0	.	51	Q3LXA3	DHAK_HUMAN	R	51;51;51;50	ENSP00000378360:L51R;ENSP00000431844:L51R;ENSP00000432539:L50R	ENSP00000378360:L51R	L	+	2	0	DAK	60862137	1.000000	0.71417	0.970000	0.41538	0.852000	0.48524	7.587000	0.82613	2.276000	0.75962	0.454000	0.30748	CTG		0.687	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		42	32	0	0	0	1	0	42	32					G	61105561	T	G	61105561	3	3	57	1	0	0	0	0	1	0	0	0	4230	1580	55	4	158	4	DAK	11	61105561	Missense_Mutation	SNP	T	TCGA-QN-A5NN-01A-11D-A28R-08	5402012	61105561	73900955	51	9772										
RNF121	55298	broad.mit.edu	37	chr11	71693851	71693851	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	gttgttcccctctatttcacAgtgaagctgcactggtggag	11	10	2	1			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:71693851A>C	ENST00000361756.3	+	4	649	c.288A>C	c.(286-288)acA>acC	p.T96T	RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000533380.1_Intron|RNF121_ENST00000545854.1_Silent_p.T15T|RNF121_ENST00000530137.1_Silent_p.T64T|RNF121_ENST00000393713.3_Silent_p.T64T	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	96						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TCTATTTCACAGTGAAGCTGC	0.512																																						ENST00000361756.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						c.(286-288)acA>acC		ring finger protein 121							273	232	246					11																	71693851		2200	4293	6493	SO:0001819	synonymous_variant	55298					integral to membrane	zinc ion binding	g.chr11:71693851A>C	AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"RING-type (C3HC4) zinc fingers"	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.288A>C	11.37:g.71693851A>C			Somatic				RNF121_ENST00000545854.1_Silent_p.T15T|RNF121_ENST00000533380.1_Intron|RNF121_ENST00000530137.1_Silent_p.T64T|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000393713.3_Silent_p.T64T	p.T96T	NM_018320.4	NP_060790.2	WXS	Illumina GAIIx	Phase_I	Q9H920	RN121_HUMAN			4	649	+			96					B3KSW8|Q6IA57|Q6P449|Q96DB4	Silent	SNP	ENST00000361756.3	37	c.288A>C	CCDS8203.1																																																																																				0.512	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347132.1	NM_018320		25	78	0	0	0	1	0	25	78					C	71693851	A	C	71693851	2	2	57	1	0	0	0	0	0	0	0	1	13446	175	7	4		4	RNF121	11	71693851	Silent	SNP	A	TCGA-QN-A5NN-01A-11D-A28R-08	10588290	71693851	63312665	52	9773										
ARAP1	116985	broad.mit.edu	37	chr11	72425328	72425328	+	Frame_Shift_Del	DEL	A	A	-													0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	gtggctggggaggggatgatAatgatggcagcaatgactcc							TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:72425328delA	ENST00000393609.3	-	4	750	c.548delT	c.(547-549)ttafs	p.L183fs	ARAP1_ENST00000455638.2_Frame_Shift_Del_p.L183fs|ARAP1_ENST00000393605.3_5'Flank|ARAP1_ENST00000429686.1_5'UTR|ARAP1_ENST00000334211.8_5'UTR|ARAP1_ENST00000359373.5_Frame_Shift_Del_p.L183fs|ARAP1_ENST00000426523.1_5'UTR	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	183					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						AGGGGATGATAATGATGGCAG	0.592																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(547-549)tafs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							29	32	31					11																	72425328		2022	4169	6191	SO:0001589	frameshift_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.chr11:72425328delA	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.548delT	11.37:g.72425328delA	ENSP00000377233:p.Leu183fs		Somatic				ARAP1_ENST00000455638.2_Frame_Shift_Del_p.L183fs|ARAP1_ENST00000429686.1_5'UTR|ARAP1_ENST00000426523.1_5'UTR|ARAP1_ENST00000393609.3_Frame_Shift_Del_p.L183fs|ARAP1_ENST00000334211.8_5'UTR	p.L183fs			WXS	Illumina GAIIx	Phase_I	Q96P48	ARAP1_HUMAN			4	1399	-			183					A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Frame_Shift_Del	DEL	ENST00000393609.3	37	c.548delT	CCDS41687.1																																																																																				0.592	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		2	4						2	4	---	---	---	---	-	72425328	A	-	72425328	7	5	57	1	0	1	0	1	0	0	0	0	838	372	13	0	3932	0	ARAP1	11	72425328	Frame_Shift_Del	DEL	A	TCGA-QN-A5NN-01A-11D-A28R-08	731477	72425328	62581188	53	9774										
OMP	4975	broad.mit.edu	37	chr11	76813927	76813927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	cagccgcagctggacatgccGctggtcctggaccagggcct	14	15	0	0	rs376088397		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:76813927G>A	ENST00000529803.1	+	1	42	c.42G>A	c.(40-42)ccG>ccA	p.P14P	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	14					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TGGACATGCCGCTGGTCCTGG	0.692																																						ENST00000529803.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(40-42)ccG>ccA		olfactory marker protein		G	,	0,4134		0,0,2067	14	19	18		,42	-5.1	1	11		18	2,8304		0,2,4151	no	intron,coding-synonymous	CAPN5,OMP	NM_004055.4,NM_006189.1	,	0,2,6218	AA,AG,GG		0.0241,0.0,0.0161	,	,14/164	76813927	2,12438	2067	4153	6220	SO:0001819	synonymous_variant	4975				sensory perception of smell|synaptic transmission			g.chr11:76813927G>A	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.42G>A	11.37:g.76813927G>A			Somatic				CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000278559.3_Intron	p.P14P	NM_006189.1	NP_006180.1	WXS	Illumina GAIIx	Phase_I	P47874	OMP_HUMAN			1	42	+			14					Q562G2	Silent	SNP	ENST00000529803.1	37	c.42G>A	CCDS53682.1																																																																																				0.692	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189		21	14	0	0	0	1	0	21	14					A	76813927	G	A	76813927	2	1	57	1	0	0	0	0	0	0	0	1	10876	1074	38	1		1	OMP	11	76813927	Silent	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08	4388599	76813927	58192589	54	9775										
MMP1	4312	broad.mit.edu	37	chr11	102661492	102661492	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	ccaggaaagtcatgtgctatCattttgggataacctggatc	10	8	2	0			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:102661492C>G	ENST00000315274.6	-	9	1309	c.1242G>C	c.(1240-1242)atG>atC	p.M414I	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	414					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)	CATGTGCTATCATTTTGGGAT	0.383																																						ENST00000315274.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(1240-1242)atG>atC		matrix metallopeptidase 1 (interstitial collagenase)							203	191	195					11																	102661492		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.chr11:102661492C>G	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.1242G>C	11.37:g.102661492C>G	ENSP00000322788:p.Met414Ile		Somatic				WTAPP1_ENST00000525739.2_RNA	p.M414I	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)	9	1309	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	414			Hemopexin-like 3.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.1242G>C	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	c	11.27	1.588890	0.28357	.	.	ENSG00000196611	ENST00000315274	T	0.02421	4.3	5.96	3.46	0.39613	Hemopexin/matrixin (2);	0.920129	0.09441	N	0.801796	T	0.02156	0.0067	N	0.20530	0.585	0.22479	N	0.999063	B	0.02656	0.0	B	0.04013	0.001	T	0.50491	-0.8822	10	0.19147	T	0.46	.	4.8049	0.13316	0.0:0.5332:0.1492:0.3176	.	414	P03956	MMP1_HUMAN	I	414	ENSP00000322788:M414I	ENSP00000322788:M414I	M	-	3	0	MMP1	102166702	0.000000	0.05858	0.976000	0.42696	0.991000	0.79684	-0.797000	0.04570	0.514000	0.28300	0.655000	0.94253	ATG		0.383	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		28	19	0	0	0	1	0	28	19					G	102661492	C	G	102661492	3	3	57	1	0	0	0	0	1	0	0	0	9657	826	29	2	175	2	MMP1	11	102661492	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	25847565	102661492	32345024	55	9776										
SPATS2	65244	broad.mit.edu	37	chr12	49912901	49912901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	gaaggctgaacttctaaagaAgatgactcatgtggctgttc	11	7	2	4			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:49912901A>G	ENST00000553127.1	+	12	1457	c.944A>G	c.(943-945)aAg>aGg	p.K315R	SPATS2_ENST00000552918.1_Missense_Mutation_p.K315R|SPATS2_ENST00000321898.6_Missense_Mutation_p.K315R			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	315						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CTTCTAAAGAAGATGACTCAT	0.398																																						ENST00000553127.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						c.(943-945)aAg>aGg		spermatogenesis associated, serine-rich 2							94	84	87					12																	49912901		2203	4300	6503	SO:0001583	missense	65244					cytoplasm		g.chr12:49912901A>G	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.944A>G	12.37:g.49912901A>G	ENSP00000448228:p.Lys315Arg		Somatic				SPATS2_ENST00000552918.1_Missense_Mutation_p.K315R|SPATS2_ENST00000321898.6_Missense_Mutation_p.K315R	p.K315R			WXS	Illumina GAIIx	Phase_I	Q86XZ4	SPAS2_HUMAN			12	1457	+			315					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	c.944A>G	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823280	0.32237	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	5.65	5.65	0.86999	.	0.051535	0.85682	D	0.000000	T	0.48114	0.1482	L	0.33137	0.985	0.80722	D	1	P	0.35684	0.515	B	0.42112	0.376	T	0.42413	-0.9453	9	0.02654	T	1	-18.7319	14.1503	0.65378	1.0:0.0:0.0:0.0	.	315	Q86XZ4	SPAS2_HUMAN	R	315	.	ENSP00000326841:K315R	K	+	2	0	SPATS2	48199168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.610000	0.61155	2.288000	0.76882	0.528000	0.53228	AAG		0.398	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		14	15	0	0	0	1	0	14	15					G	49912901	A	G	49912901	3	3	57	1	0	0	0	0	1	0	0	0	15034	72	3	4	978	4	SPATS2	12	49912901	Missense_Mutation	SNP	A	TCGA-QN-A5NN-01A-11D-A28R-08		49912901	83938994	56	9777										
LARP4	113251	broad.mit.edu	37	chr12	50834308	50834308	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	agcaactggtatatcactttCcagtcagacacagatgcaca	7	11	2	2			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:50834308C>G	ENST00000398473.2	+	7	838	c.726C>G	c.(724-726)ttC>ttG	p.F242L	LARP4_ENST00000347328.5_Missense_Mutation_p.F242L|LARP4_ENST00000518444.1_Missense_Mutation_p.F241L|LARP4_ENST00000518561.1_Missense_Mutation_p.F172L|LARP4_ENST00000429001.3_Missense_Mutation_p.F248L|LARP4_ENST00000522085.1_Missense_Mutation_p.F242L|LARP4_ENST00000293618.8_Missense_Mutation_p.F242L	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	242	RRM.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATATCACTTTCCAGTCAGACA	0.353																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(724-726)ttC>ttG		La ribonucleoprotein domain family, member 4							96	84	87					12																	50834308		1854	4114	5968	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50834308C>G	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.726C>G	12.37:g.50834308C>G	ENSP00000381490:p.Phe242Leu		Somatic				LARP4_ENST00000522085.1_Missense_Mutation_p.F242L|LARP4_ENST00000518444.1_Missense_Mutation_p.F241L|LARP4_ENST00000429001.3_Missense_Mutation_p.F248L|LARP4_ENST00000347328.5_Missense_Mutation_p.F242L|LARP4_ENST00000293618.8_Missense_Mutation_p.F242L|LARP4_ENST00000518561.1_Missense_Mutation_p.F172L	p.F242L	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	WXS	Illumina GAIIx	Phase_I	Q71RC2	LARP4_HUMAN			7	838	+			242			RRM.		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.726C>G	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348800	0.82132	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000441650;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000518561;ENST00000520064;ENST00000347328	T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11	4.97	4.08	0.47627	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.77384	0.4122	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.996;0.999;0.998	D;D;D;D;D;D	0.97110	0.999;1.0;0.987;0.976;0.998;0.993	T	0.81339	-0.0977	10	0.72032	D	0.01	.	13.5791	0.61891	0.0:0.9236:0.0:0.0764	.	143;241;242;242;242;248	Q71RC2-2;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;LARP4_HUMAN;.	L	242;248;242;172;242;242;241;172;143;242	ENSP00000293618:F242L;ENSP00000415464:F248L;ENSP00000381490:F242L;ENSP00000429781:F242L;ENSP00000429077:F241L;ENSP00000430851:F172L;ENSP00000340901:F242L	ENSP00000293618:F242L	F	+	3	2	LARP4	49120575	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.950000	0.56676	1.219000	0.43474	0.484000	0.47621	TTC		0.353	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		12	14	0	0	0	1	0	12	14					G	50834308	C	G	50834308	3	3	57	1	0	0	0	0	1	0	0	0	8639	854	30	2	752	2	LARP4	12	50834308	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	921407	50834308	83017587	57	9778										
ACSS3	79611	broad.mit.edu	37	chr12	81471942	81471942	+	Frame_Shift_Del	DEL	G	G	-													0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	gtcgtaaagtcaccagcgccGgggggctcggagggcccttg							TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:81471942delG	ENST00000548058.1	+	1	953	c.43delG	c.(43-45)gggfs	p.G16fs	ACSS3_ENST00000261206.3_Frame_Shift_Del_p.G16fs			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	16						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						CACCAGCGCCGGGGGGCTCGG	0.697																																						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.(43-45)ggfs		acyl-CoA synthetase short-chain family member 3				8,3796		1,6,1895	4	5	5			-2.4	0.6	12		5	16,7448		3,10,3719	no	frameshift	ACSS3	NM_024560.2		4,16,5614	A1A1,A1R,RR		0.2144,0.2103,0.213			81471942	24,11244	2063	4026	6089	SO:0001589	frameshift_variant	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81471942delG		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.43delG	12.37:g.81471942delG	ENSP00000449535:p.Gly16fs		Somatic				ACSS3_ENST00000261206.3_Frame_Shift_Del_p.G16fs	p.G16fs			WXS	Illumina GAIIx	Phase_I	Q9H6R3	ACSS3_HUMAN			1	953	+			16					Q8NC66	Frame_Shift_Del	DEL	ENST00000548058.1	37	c.43delG	CCDS9022.1																																																																																				0.697	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		2	4						2	4	---	---	---	---	-	81471942	G	-	81471942	7	5	57	1	0	1	0	1	0	0	0	0	190	1116	39	0	45	0	ACSS3	12	81471942	Frame_Shift_Del	DEL	G	TCGA-QN-A5NN-01A-11D-A28R-08	30637634	81471942	52379953	58	9779										
WDR66	144406	broad.mit.edu	37	chr12	122361824	122361824	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	tccaaagcagggatctcccgGgagtcactggtgtccagcac	12	13	2	0			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:122361824G>T	ENST00000288912.4	+	3	1529	c.675G>T	c.(673-675)cgG>cgT	p.R225R	WDR66_ENST00000397454.2_Silent_p.R225R	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	225							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GGATCTCCCGGGAGTCACTGG	0.493																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(673-675)cgG>cgT		WD repeat domain 66							94	90	91					12																	122361824		1899	4115	6014	SO:0001819	synonymous_variant	144406						calcium ion binding	g.chr12:122361824G>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.675G>T	12.37:g.122361824G>T			Somatic				WDR66_ENST00000397454.2_Silent_p.R225R	p.R225R	NM_144668.5	NP_653269.3	WXS	Illumina GAIIx	Phase_I	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	3	1529	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		225					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	c.675G>T	CCDS41853.1																																																																																				0.493	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		25	52	1	0	1.64293e-13	1	1.71068e-13	25	52					T	122361824	G	T	122361824	2	4	57	1	0	0	0	0	0	0	0	1	17332	1219	43	5		5	WDR66	12	122361824	Silent	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08	40889882	122361824	11490071	59	9780										
C13orf23	80209	broad.mit.edu	37	chr13	39597212	39597212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	gtgcaatagttgcatgtggtCggcatggaggtatcggataa	15	5	0	0			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr13:39597212C>T	ENST00000352251.3	-	8	1453	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.R185Q	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	207	Pro-rich.																TGCATGTGGTCGGCATGGAGG	0.348																																						ENST00000352251.3																			0											c.(619-621)cGa>cAa		proline and serine rich 1							167	166	166					13																	39597212		2203	4300	6503	SO:0001583	missense	80209							g.chr13:39597212C>T	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.620G>A	13.37:g.39597212C>T	ENSP00000332034:p.Arg207Gln		Somatic				PROSER1_ENST00000350125.3_Missense_Mutation_p.R185Q|PROSER1_ENST00000484434.2_Intron	p.R207Q	NM_025138.3	NP_079414.3	WXS	Illumina GAIIx	Phase_I	Q86XN7	CM023_HUMAN			8	1453	-			207			Pro-rich.		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.620G>A	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694348	0.88830	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.58940	0.35;0.3	5.68	4.84	0.62591	.	.	.	.	.	T	0.63283	0.2498	M	0.63843	1.955	0.58432	D	0.999999	D;D	0.61697	0.99;0.99	P;P	0.50825	0.651;0.651	T	0.64681	-0.6350	8	.	.	.	-13.4992	13.8458	0.63466	0.0:0.9267:0.0:0.0733	.	185;207	A6NJ97;Q86XN7	.;PRSR1_HUMAN	Q	207;185	ENSP00000332034:R207Q;ENSP00000339123:R185Q	.	R	-	2	0	PROSER1	38495212	1.000000	0.71417	0.998000	0.56505	0.697000	0.40408	7.126000	0.77201	1.417000	0.47077	0.655000	0.94253	CGA		0.348	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		24	11	0	0	0	1	0	24	11					T	39597212	C	T	39597212	3	4	57	1	0	0	0	0	1	0	0	0	1723	884	31	1	2238	1	C13orf23	13	39597212	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08		39597212	75572666	60	9781										
OR11H6	122748	broad.mit.edu	37	chr14	20692036	20692036	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	ctggttctctatctcctgacActgctagggaatggagctat	10	10	2	1			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr14:20692036A>G	ENST00000315519.2	+	1	246	c.168A>G	c.(166-168)acA>acG	p.T56T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	56						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)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		ATCTCCTGACACTGCTAGGGA	0.478																																						ENST00000315519.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(166-168)acA>acG		olfactory receptor, family 11, subfamily H, member 6							142	134	137					14																	20692036		2203	4300	6503	SO:0001819	synonymous_variant	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692036A>G		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"GPCR / Class A : Olfactory receptors"	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.168A>G	14.37:g.20692036A>G			Somatic					p.T56T	NM_001004480.1	NP_001004480.1	WXS	Illumina GAIIx	Phase_I	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	246	+	all_cancers(95;0.00108)		56					Q6IF08	Silent	SNP	ENST00000315519.2	37	c.168A>G	CCDS32033.1																																																																																				0.478	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			15	60	0	0	0	1	0	15	60					G	20692036	A	G	20692036	2	3	57	1	0	0	0	0	0	0	0	1	10938	146	6	4		4	OR11H6	14	20692036	Silent	SNP	A	TCGA-QN-A5NN-01A-11D-A28R-08		20692036	86657504	61	9782										
YLPM1	56252	broad.mit.edu	37	chr14	75265354	75265354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	ggaccacctcggagggctggCagtcaggagaggggacctct	17	11	2	1			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr14:75265354C>T	ENST00000325680.7	+	5	3478	c.3354C>T	c.(3352-3354)ggC>ggT	p.G1118G	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.G923G	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	923	Arg-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)		GGAGGGCTGGCAGTCAGGAGA	0.642																																						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.(3352-3354)ggC>ggT		YLP motif containing 1							38	45	43					14																	75265354		1921	4119	6040	SO:0001819	synonymous_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75265354C>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.3354C>T	14.37:g.75265354C>T			Somatic				YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.G923G	p.G1118G	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	3478	+			923			Arg-rich.		P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000325680.7	37	c.3354C>T	CCDS45135.1																																																																																				0.642	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		29	23	0	0	0	1	0	29	23					T	75265354	C	T	75265354	2	4	57	1	0	0	0	0	0	0	0	1	17501	697	25	3		3	YLPM1	14	75265354	Silent	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	54573318	75265354	32084186	62	9783										
TMCO5A	145942	broad.mit.edu	37	chr15	38229143	38229143	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	ggaaagggaaagagccttgcAggagctggaggaagaaacag	17	5	0	2			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr15:38229143A>C	ENST00000319669.4	+	3	338	c.236A>C	c.(235-237)cAg>cCg	p.Q79P	TMCO5A_ENST00000540944.1_Missense_Mutation_p.Q79P|TMCO5A_ENST00000558158.1_Missense_Mutation_p.Q79P|TMCO5A_ENST00000559502.1_Missense_Mutation_p.Q79P	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	79						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						AGAGCCTTGCAGGAGCTGGAG	0.488																																						ENST00000558158.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						c.(235-237)cAg>cCg		transmembrane and coiled-coil domains 5A							100	108	106					15																	38229143		2200	4297	6497	SO:0001583	missense	145942					integral to membrane		g.chr15:38229143A>C	BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 5"	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.236A>C	15.37:g.38229143A>C	ENSP00000327234:p.Gln79Pro		Somatic				TMCO5A_ENST00000319669.4_Missense_Mutation_p.Q79P|TMCO5A_ENST00000540944.1_Missense_Mutation_p.Q79P|TMCO5A_ENST00000559502.1_Missense_Mutation_p.Q79P	p.Q79P			WXS	Illumina GAIIx	Phase_I	Q8N6Q1	TMC5A_HUMAN			4	390	+			79					Q8NA63	Missense_Mutation	SNP	ENST00000319669.4	37	c.236A>C	CCDS10046.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.852446	0.51270	.	.	ENSG00000166069	ENST00000540944;ENST00000319669	.	.	.	4.52	4.52	0.55395	.	0.115213	0.39615	N	0.001302	T	0.69387	0.3105	M	0.68317	2.08	0.37176	D	0.903251	D;D	0.67145	0.99;0.996	P;D	0.63877	0.885;0.919	T	0.75850	-0.3172	9	0.62326	D	0.03	-5.4903	10.5441	0.45050	1.0:0.0:0.0:0.0	.	79;79	Q8N6Q1;Q8N6Q1-2	TMC5A_HUMAN;.	P	79	.	ENSP00000327234:Q79P	Q	+	2	0	TMCO5A	36016435	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	1.029000	0.30140	2.254000	0.74563	0.533000	0.62120	CAG		0.488	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252012.1	NM_152453		24	6	0	0	0	1	0	24	6					C	38229143	A	C	38229143	3	2	57	1	0	0	0	0	1	0	0	0	16014	188	7	4	242	4	TMCO5A	15	38229143	Missense_Mutation	SNP	A	TCGA-QN-A5NN-01A-11D-A28R-08		38229143	64302249	63	9784										
WDR72	256764	broad.mit.edu	37	chr15	53957934	53957934	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	caattaagaataattcgtgcTctttctcctgtctcatgtct	5	10	4	1			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr15:53957934T>C	ENST00000396328.1	-	14	2036	c.1797A>G	c.(1795-1797)agA>agG	p.R599R	WDR72_ENST00000360509.5_Silent_p.R599R|WDR72_ENST00000557913.1_Silent_p.R596R|WDR72_ENST00000559418.1_Silent_p.R609R	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	599										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)		TAATTCGTGCTCTTTCTCCTG	0.373																																						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.(1795-1797)agA>agG		WD repeat domain 72							125	112	116					15																	53957934		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:53957934T>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.1797A>G	15.37:g.53957934T>C			Somatic				WDR72_ENST00000557913.1_Silent_p.R596R|WDR72_ENST00000360509.5_Silent_p.R599R|WDR72_ENST00000559418.1_Silent_p.R609R	p.R599R	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)	14	2036	-			599					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.1797A>G	CCDS10151.1																																																																																				0.373	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		23	8	0	0	0	1	0	23	8					C	53957934	T	C	53957934	2	2	57	1	0	0	0	0	0	0	0	1	17337	1548	54	4		4	WDR72	15	53957934	Silent	SNP	T	TCGA-QN-A5NN-01A-11D-A28R-08	15728791	53957934	48573458	64	9785										
ABCC1	4363	broad.mit.edu	37	chr16	16149958	16149958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	tctcttccaaggtggcccacAtgaagagcaaagacaatcgg	10	11	1	3			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:16149958A>G	ENST00000399410.3	+	12	1658	c.1483A>G	c.(1483-1485)Atg>Gtg	p.M495V	ABCC1_ENST00000399408.2_Missense_Mutation_p.M495V|ABCC1_ENST00000346370.5_Missense_Mutation_p.M495V|ABCC1_ENST00000349029.5_Missense_Mutation_p.M495V|ABCC1_ENST00000345148.5_Missense_Mutation_p.M495V|ABCC1_ENST00000351154.5_Missense_Mutation_p.M495V	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	495	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGTGGCCCACATGAAGAGCAA	0.473																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(1483-1485)Atg>Gtg		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						91	89	90					16																	16149958		1981	4162	6143	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16149958A>G	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1483A>G	16.37:g.16149958A>G	ENSP00000382342:p.Met495Val		Somatic				ABCC1_ENST00000349029.5_Missense_Mutation_p.M495V|ABCC1_ENST00000346370.5_Missense_Mutation_p.M495V|ABCC1_ENST00000351154.5_Missense_Mutation_p.M495V|ABCC1_ENST00000345148.5_Missense_Mutation_p.M495V|ABCC1_ENST00000399410.3_Missense_Mutation_p.M495V	p.M495V			WXS	Illumina GAIIx	Phase_I	P33527	MRP1_HUMAN			12	1658	+			495			ABC transmembrane type-1 1.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.1483A>G	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.973987	0.74246	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	5.32	5.32	0.75619	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	0.93986	0.8074	M	0.79475	2.455	0.53005	D	0.999965	D;D;P;P;D;B;B	0.61697	0.99;0.982;0.538;0.93;0.982;0.047;0.126	D;D;P;P;D;B;B	0.72982	0.979;0.961;0.492;0.79;0.961;0.259;0.168	D	0.94692	0.7875	10	0.87932	D	0	-39.7413	14.4746	0.67537	1.0:0.0:0.0:0.0	.	495;495;495;495;495;495;495	P33527-6;P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;.;MRP1_HUMAN;.	V	495;495;495;495;495;495;169	ENSP00000382342:M495V;ENSP00000382340:M495V;ENSP00000263019:M495V;ENSP00000263017:M495V;ENSP00000263014:M495V;ENSP00000263016:M495V	ENSP00000263014:M495V	M	+	1	0	ABCC1	16057459	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	8.915000	0.92740	2.007000	0.58848	0.459000	0.35465	ATG		0.473	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		11	41	0	0	0	1	0	11	41					G	16149958	A	G	16149958	3	3	57	1	0	0	0	0	1	0	0	0	49	217	8	4	1529	4	ABCC1	16	16149958	Missense_Mutation	SNP	A	TCGA-QN-A5NN-01A-11D-A28R-08		16149958	74204795	65	9786										
GP2	2813	broad.mit.edu	37	chr16	20331092	20331092	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	tggcatgggtttgatttctcTttggcaaaaaaacaaaacca	8	7	1	1			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:20331092T>C	ENST00000381362.4	-	7	944		c.e7-2		GP2_ENST00000341642.5_Splice_Site|GP2_ENST00000302555.5_Splice_Site|GP2_ENST00000573897.1_Splice_Site|GP2_ENST00000381360.5_Splice_Site	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)						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						TTGATTTCTCTTTGGCAAAAA	0.388																																						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.e6-2		glycoprotein 2 (zymogen granule membrane)							344	333	337					16																	20331092		2203	4300	6503	SO:0001630	splice_region_variant	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20331092T>C	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.868-2A>G	16.37:g.20331092T>C			Somatic				GP2_ENST00000381362.4_Splice_Site|GP2_ENST00000341642.5_Splice_Site|GP2_ENST00000573897.1_Splice_Site|GP2_ENST00000381360.5_Splice_Site				WXS	Illumina GAIIx	Phase_I	P55259	GP2_HUMAN			6	1008	-								A6NFM9|A6NJA8|Q13338|Q9UIF1	Splice_Site	SNP	ENST00000381362.4	37		CCDS42128.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652866	0.67472	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4373	0.61092	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GP2	20238593	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	5.256000	0.65468	2.057000	0.61298	0.533000	0.62120	.		0.388	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295	Intron	56	56	0	0	0	1	0	56	56					C	20331092	T	C	20331092	5	2	57	1	0	0	0	0	0	0	1	0	6590	1623	56	4	771	4	GP2	16	20331092	Splice_Site	SNP	T	TCGA-QN-A5NN-01A-11D-A28R-08	4181134	20331092	70023661	66	9787										
SULT1A1	6817	broad.mit.edu	37	chr16	28618359	28618359	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	gtggtagaagtggtagtaggAaactgccacatcctttgcgt	13	7	0	1			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:28618359A>T	ENST00000395607.1	-	5	685	c.412T>A	c.(412-414)Tcc>Acc	p.S138T	SULT1A1_ENST00000395609.1_Missense_Mutation_p.S138T|SULT1A1_ENST00000350842.4_Missense_Mutation_p.S60T|SULT1A1_ENST00000569554.1_Missense_Mutation_p.S138T|SULT1A1_ENST00000314752.7_Missense_Mutation_p.S138T	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	138					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)	TGGTAGTAGGAAACTGCCACA	0.582																																						ENST00000395609.1																			0				endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						c.(412-414)Tcc>Acc		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1							225	162	184					16																	28618359		2197	4300	6497	SO:0001583	missense	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.chr16:28618359A>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	ENST00000395607.1:c.412T>A	16.37:g.28618359A>T	ENSP00000378971:p.Ser138Thr		Somatic				SULT1A1_ENST00000569554.1_Missense_Mutation_p.S138T|SULT1A1_ENST00000395607.1_Missense_Mutation_p.S138T|SULT1A1_ENST00000314752.7_Missense_Mutation_p.S138T|SULT1A1_ENST00000350842.4_Missense_Mutation_p.S60T	p.S138T			WXS	Illumina GAIIx	Phase_I	P50225	ST1A1_HUMAN			7	1170	-			138					Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	ENST00000395607.1	37	c.412T>A	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	a	13.95	2.390725	0.42410	.	.	ENSG00000196502	ENST00000314752;ENST00000350842;ENST00000395609;ENST00000395607	D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83	2.42	2.42	0.29668	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000001	D	0.99193	0.9720	H	0.98155	4.16	0.43632	D	0.996023	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;1.0;0.994	D	0.98391	1.0563	10	0.87932	D	0	.	8.7393	0.34547	1.0:0.0:0.0:0.0	.	90;60;138	Q59GG0;P50225-2;P50225	.;.;ST1A1_HUMAN	T	138;60;138;138	ENSP00000321988:S138T;ENSP00000329399:S60T;ENSP00000378972:S138T;ENSP00000378971:S138T	ENSP00000321988:S138T	S	-	1	0	SULT1A1	28525860	1.000000	0.71417	0.975000	0.42487	0.026000	0.11368	8.376000	0.90138	1.374000	0.46228	0.254000	0.18369	TCC		0.582	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		36	119	0	0	0	1	0	36	119					T	28618359	A	T	28618359	3	4	57	1	0	0	0	0	1	0	0	0	15387	246	9	4	491	4	SULT1A1	16	28618359	Missense_Mutation	SNP	A	TCGA-QN-A5NN-01A-11D-A28R-08	8287267	28618359	61736394	67	9788										
DOC2A	8448	broad.mit.edu	37	chr16	30021385	30021385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	gccagggggaccagatgggcGggggcctccccgccgccccc	17	18	0	1	rs533248931		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:30021385G>A	ENST00000350119.4	-	2	349	c.159C>T	c.(157-159)ccC>ccT	p.P53P	DOC2A_ENST00000564944.1_Silent_p.P53P|DOC2A_ENST00000564979.1_Silent_p.P53P|DOC2A_ENST00000567824.1_5'Flank	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	53	Interaction with UNC13D and DYNLT1.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						CCAGATgggcgggggcctccc	0.721																																						ENST00000350119.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						c.(157-159)ccC>ccT		double C2-like domains, alpha																																				SO:0001819	synonymous_variant	8448				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity	g.chr16:30021385G>A	D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"Synaptotagmins"	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.159C>T	16.37:g.30021385G>A			Somatic				DOC2A_ENST00000564944.1_Silent_p.P53P|DOC2A_ENST00000564979.1_Silent_p.P53P	p.P53P	NM_003586.2	NP_003577.2	WXS	Illumina GAIIx	Phase_I	Q14183	DOC2A_HUMAN			2	349	-			53			Interaction with UNC13D and DYNLT1.		B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Silent	SNP	ENST00000350119.4	37	c.159C>T	CCDS10666.1																																																																																				0.721	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2	NM_003586		31	22	0	0	0	1	0	31	22					A	30021385	G	A	30021385	2	1	57	1	0	0	0	0	0	0	0	1	4685	1103	39	1		1	DOC2A	16	30021385	Silent	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08	1403026	30021385	60333368	68	9789										
ANKRD11	29123	broad.mit.edu	37	chr16	89351717	89351728	+	In_Frame_Del	DEL	CGACGTGTCTGA	CGACGTGTCTGA	-													0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	acactcgcgtcctcctcgtcCgacgtgtctgacaggatacg							TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:89351717_89351728delCGACGTGTCTGA	ENST00000301030.4	-	9	1682_1693	c.1222_1233delTCAGACACGTCG	c.(1222-1233)tcagacacgtcgdel	p.SDTS408del	ANKRD11_ENST00000378330.2_In_Frame_Del_p.SDTS408del	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	408					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)		CCTCCTCGTCCGACGTGTCTGACAGGATACGA	0.462																																						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.(1222-1233)del		ankyrin repeat domain 11																																				SO:0001651	inframe_deletion	29123					nucleus		g.chr16:89351717_89351728delCGACGTGTCTGA	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.1222_1233delTCAGACACGTCG	16.37:g.89351717_89351728delCGACGTGTCTGA	ENSP00000301030:p.Ser408_Ser411del		Somatic				ANKRD11_ENST00000378330.2_In_Frame_Del_p.SDTS408del	p.SDTS408del	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	1682_1693	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	408					Q6NTG1|Q6QMF8	In_Frame_Del	DEL	ENST00000301030.4	37	c.1222_1233delTCAGACACGTCG	CCDS32513.1																																																																																				0.462	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		22	33						22	33	---	---	---	---	-	89351728	CGACGTGTCTGA	-	89351717	7	5	57	1	0	1	0	1	0	0	0	0	639	639	23	0	6778	0	ANKRD11	16	89351717	In_Frame_Del	DEL	CGACGTGTCTGA	TCGA-QN-A5NN-01A-11D-A28R-08	59330332	89351717	1003036	69	9790										
TP53	7157	broad.mit.edu	37	chr17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	ggttcatgccgcccatgcagGaactgttacacatgtagttg	11	10	1	0	rs397516437|rs28934573		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:7577559G>T	ENST00000269305.4	-	7	911	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000420246.2_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> 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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCCATGCAGGAACTGTTACA	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"		160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920673	TP53	M	rs28934573	c.(721-723)tCc>tAc	Other conserved DNA damage response genes	tumor protein p53							139	108	118					17																	7577559		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.chr17:7577559G>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.722C>A	17.37:g.7577559G>T	ENSP00000269305:p.Ser241Tyr	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.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y	p.S241Y	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	854	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	241		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.722C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341685	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.52501	D	0.999952	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	0.96551	0.9408	10	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	.	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241Y;ENSP00000352610:S241Y;ENSP00000269305:S241Y;ENSP00000398846:S241Y;ENSP00000391127:S241Y;ENSP00000391478:S241Y;ENSP00000425104:S109Y;ENSP00000423862:S148Y	ENSP00000269305:S241Y	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		34	6	1	0	6.97489e-18	1	7.49429e-18	34	6					T	7577559	G	T	7577559	3	4	57	1	0	0	0	0	1	0	0	0	16396	1174	41	2	568	2	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08		7577559	73617651	70	9791										
NF1	4763	broad.mit.edu	37	chr17	29528441	29528441	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	ttctatagatctgcctggctCagaattcaccttctacattt	5	11	5	2			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:29528441C>T	ENST00000358273.4	+	11	1581	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400*|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	400					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.Q400*(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)		CTGCCTGGCTCAGAATTCACC	0.308			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	16	Whole gene deletion(8)|Unknown(6)|Substitution - Nonsense(2)	p.0?(8)|p.?(6)|p.Q400*(2)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|cervix(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.(1198-1200)Cag>Tag		neurofibromin 1							78	86	83					17																	29528441		2203	4295	6498	SO:0001587	stop_gained	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.chr17:29528441C>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.1198C>T	17.37:g.29528441C>T	ENSP00000351015:p.Gln400*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)	Somatic				NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400*	p.Q400*	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	1581	+		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)	400					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.1198C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647345	0.87958	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.17	5.17	0.71159	.	0.119548	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	18.6538	0.91441	0.0:1.0:0.0:0.0	.	.	.	.	X	400;400;400;66	.	ENSP00000348498:Q400X	Q	+	1	0	NF1	26552567	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.284000	0.58983	2.412000	0.81896	0.491000	0.48974	CAG		0.308	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		43	13	0	0	0	1	0	43	13					T	29528441	C	T	29528441	4	4	57	1	0	0	0	0	0	1	0	0	10365	827	29	3	1240	3	NF1	17	29528441	Nonsense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	21950882	29528441	51666769	71	9792										
OR4D2	124538	broad.mit.edu	37	chr17	56247337	56247337	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	atcttcttcttccactttttGggaggtgccatggtcttctt	8	10	5	0	rs199648721		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:56247337G>T	ENST00000545221.1	+	1	321	c.321G>T	c.(319-321)ttG>ttT	p.L107F		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TCCACTTTTTGGGAGGTGCCA	0.527																																						ENST00000545221.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						c.(319-321)ttG>ttT		olfactory receptor, family 4, subfamily D, member 2							93	86	88					17																	56247337		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247337G>T		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.321G>T	17.37:g.56247337G>T	ENSP00000441354:p.Leu107Phe		Somatic					p.L107F	NM_001004707.3	NP_001004707.1	WXS	Illumina GAIIx	Phase_I	P58180	OR4D2_HUMAN			1	321	+			107					Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.321G>T	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	G	0.858	-0.736420	0.03111	.	.	ENSG00000255713	ENST00000545221	T	0.00414	7.52	5.71	-3.82	0.04281	GPCR, rhodopsin-like superfamily (1);	0.155640	0.30043	N	0.010544	T	0.00144	0.0004	N	0.10874	0.06	0.21416	N	0.999694	B	0.20164	0.042	B	0.21151	0.033	T	0.44034	-0.9354	10	0.02654	T	1	-10.4722	10.5348	0.44998	0.0:0.2939:0.1737:0.5325	.	107	P58180	OR4D2_HUMAN	F	107	ENSP00000441354:L107F	ENSP00000441354:L107F	L	+	3	2	OR4D2	53602336	0.000000	0.05858	0.843000	0.33291	0.310000	0.27922	-2.519000	0.00952	-0.381000	0.07882	-0.407000	0.06327	TTG		0.527	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			61	15	1	0	5.7761e-15	1	6.14091e-15	61	15					T	56247337	G	T	56247337	3	4	57	1	0	0	0	0	1	0	0	0	11065	1339	47	5	323	5	OR4D2	17	56247337	Missense_Mutation	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08	26718896	56247337	24947873	72	9793										
ZBTB7C	201501	broad.mit.edu	37	chr18	45556036	45556036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	agcaggctggcggccctccaCgcagcaggcttgcggccgcg	16	16	0	0	rs373107783		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr18:45556036C>T	ENST00000588982.1	-	4	1956	c.1455G>A	c.(1453-1455)gcG>gcA	p.A485A	ZBTB7C_ENST00000332053.2_Silent_p.A485A|ZBTB7C_ENST00000535628.2_Silent_p.A485A|ZBTB7C_ENST00000590800.1_Silent_p.A485A|ZBTB7C_ENST00000586438.1_Silent_p.A485A			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	485							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						CGGCCCTCCACGCAGCAGGCT	0.736																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1453-1455)gcG>gcA		zinc finger and BTB domain containing 7C																																				SO:0001819	synonymous_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45556036C>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.1455G>A	18.37:g.45556036C>T			Somatic				ZBTB7C_ENST00000535628.2_Silent_p.A485A|ZBTB7C_ENST00000590800.1_Silent_p.A485A|ZBTB7C_ENST00000586438.1_Silent_p.A485A|ZBTB7C_ENST00000332053.2_Silent_p.A485A	p.A485A			WXS	Illumina GAIIx	Phase_I	A1YPR0	ZBT7C_HUMAN			4	1956	-			485					O73453	Silent	SNP	ENST00000588982.1	37	c.1455G>A	CCDS32830.1																																																																																				0.736	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		6	1	0	0	0	1	0	6	1					T	45556036	C	T	45556036	2	4	57	1	0	0	0	0	0	0	0	1	17570	523	19	1		1	ZBTB7C	18	45556036	Silent	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08		45556036	32521212	73	9794										
NFATC1	4772	broad.mit.edu	37	chr18	77171011	77171011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	ccacctcgccccgcgccagcGtcactgaggagagctggctg	13	17	1	2			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr18:77171011G>A	ENST00000427363.2	+	2	736	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	NFATC1_ENST00000542384.1_Missense_Mutation_p.V246I|NFATC1_ENST00000253506.5_Missense_Mutation_p.V246I|NFATC1_ENST00000586434.1_Missense_Mutation_p.V233I|NFATC1_ENST00000592223.1_Missense_Mutation_p.V233I|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.V233I|NFATC1_ENST00000587635.1_Missense_Mutation_p.V246I|NFATC1_ENST00000591814.1_Missense_Mutation_p.V246I|NFATC1_ENST00000329101.4_Missense_Mutation_p.V233I|NFATC1_ENST00000545796.1_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	246	3 X SP repeats.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V233I(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCGCGCCAGCGTCACTGAGGA	0.711																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			1	Substitution - Missense(1)	p.V233I(1)	lung(1)	NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(736-738)Gtc>Atc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1																																				SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77171011G>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.736G>A	18.37:g.77171011G>A	ENSP00000389377:p.Val246Ile		Somatic				NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.V246I|NFATC1_ENST00000329101.4_Missense_Mutation_p.V233I|NFATC1_ENST00000591814.1_Missense_Mutation_p.V246I|NFATC1_ENST00000586434.1_Missense_Mutation_p.V233I|NFATC1_ENST00000592223.1_Missense_Mutation_p.V233I|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.V246I|NFATC1_ENST00000427363.2_Missense_Mutation_p.V246I|NFATC1_ENST00000318065.5_Missense_Mutation_p.V233I	p.V246I	NM_006162.3	NP_006153.2	WXS	Illumina GAIIx	Phase_I	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	1105	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	246			3 X SP repeats.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.736G>A		.	.	.	.	.	.	.	.	.	.	G	0.009	-1.799850	0.00611	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.75367	-0.93;-0.93;-0.93	5.05	-3.02	0.05446	.	0.589016	0.17957	N	0.156304	T	0.37812	0.1017	N	0.02345	-0.59	0.40508	D	0.980717	B;B;B;B;B;B;B	0.20261	0.024;0.024;0.024;0.024;0.024;0.043;0.024	B;B;B;B;B;B;B	0.16722	0.016;0.016;0.01;0.007;0.007;0.01;0.01	T	0.43491	-0.9388	10	0.02654	T	1	-34.1493	8.3114	0.32073	0.5774:0.1102:0.3124:0.0	.	233;233;246;246;246;233;246	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	I	246;246;246;233;233;210	ENSP00000253506:V246I;ENSP00000442435:V246I;ENSP00000327850:V233I	ENSP00000253506:V246I	V	+	1	0	NFATC1	75271999	0.890000	0.30428	0.036000	0.18154	0.115000	0.19883	0.846000	0.27682	-0.474000	0.06862	-0.140000	0.14226	GTC		0.711	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		25	8	0	0	0	1	0	25	8					A	77171011	G	A	77171011	3	1	57	1	0	0	0	0	1	0	0	0	10370	1145	40	1	834	1	NFATC1	18	77171011	Missense_Mutation	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08	31614975	77171011	906237	74	9795										
ECSIT	51295	broad.mit.edu	37	chr19	11624812	11624812	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	agggccaggtagatgaagtcAatgtggccccgcttacgcac	13	11	1	2			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr19:11624812A>C	ENST00000270517.7	-	3	456	c.321T>G	c.(319-321)atT>atG	p.I107M	ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000252440.7_Missense_Mutation_p.I107M|ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000592312.1_De_novo_Start_InFrame|ECSIT_ENST00000591104.1_Missense_Mutation_p.I107M|ECSIT_ENST00000588998.1_Intron|RN7SL833P_ENST00000498758.2_RNA	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	107					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						AGATGAAGTCAATGTGGCCCC	0.602																																						ENST00000270517.7																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(319-321)atT>atG		ECSIT signalling integrator							131	94	106					19																	11624812		2203	4300	6503	SO:0001583	missense	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11624812A>C	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.321T>G	19.37:g.11624812A>C	ENSP00000270517:p.Ile107Met		Somatic				ECSIT_ENST00000592312.1_De_novo_Start_InFrame|ECSIT_ENST00000591104.1_Missense_Mutation_p.I107M|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Missense_Mutation_p.I107M|ECSIT_ENST00000417981.2_Intron	p.I107M	NM_016581.4	NP_057665.2	WXS	Illumina GAIIx	Phase_I	Q9BQ95	ECSIT_HUMAN			3	456	-			107					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	37	c.321T>G	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	a	16.64	3.180548	0.57800	.	.	ENSG00000130159	ENST00000270517;ENST00000252440	T;T	0.77489	-1.1;-1.1	5.71	-11.3	0.00108	.	0.000000	0.85682	D	0.000000	T	0.53142	0.1778	N	0.08118	0	0.80722	D	1	B;B	0.33826	0.141;0.427	B;B	0.39617	0.132;0.305	T	0.62072	-0.6931	10	0.87932	D	0	-29.7861	12.5504	0.56223	0.3902:0.4274:0.1824:0.0	.	107;107	Q9BQ95-2;Q9BQ95	.;ECSIT_HUMAN	M	107	ENSP00000270517:I107M;ENSP00000252440:I107M	ENSP00000252440:I107M	I	-	3	3	ECSIT	11485812	0.612000	0.27000	0.819000	0.32651	0.694000	0.40290	-0.181000	0.09740	-1.210000	0.02627	-0.427000	0.05922	ATT		0.602	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		66	17	0	0	0	1	0	66	17					C	11624812	A	C	11624812	3	2	57	1	0	0	0	0	1	0	0	0	4902	126	5	4	998	4	ECSIT	19	11624812	Missense_Mutation	SNP	A	TCGA-QN-A5NN-01A-11D-A28R-08		11624812	47504171	75	9796										
ATF5	22809	broad.mit.edu	37	chr19	50436066	50436068	+	In_Frame_Del	DEL	CTT	CTT	-													0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	gccacagcagccccctcctcCttctccacctcaaccttctc							TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr19:50436066_50436068delCTT	ENST00000423777.2	+	3	943_945	c.566_568delCTT	c.(565-570)ccttct>cct	p.S190del	CTC-326K19.6_ENST00000451973.1_Intron|MIR4751_ENST00000578027.1_RNA|ATF5_ENST00000595125.1_In_Frame_Del_p.S190del	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	190	Interaction with PTP4A1. {ECO:0000250}.|Poly-Pro.				multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	CCCCCTCCTCCTTCTCCACCTCA	0.64																																					GBM(48;768 989 9196 9511 26329)	ENST00000423777.2																			0				NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7						c.(565-570)cct>c		activating transcription factor 5																																				SO:0001651	inframe_deletion	22809				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:50436066_50436068delCTT	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"basic leucine zipper proteins"	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.566_568delCTT	19.37:g.50436066_50436068delCTT	ENSP00000396954:p.Ser190del		Somatic				ATF5_ENST00000595125.1_In_Frame_Del_p.PS189del|CTC-326K19.6_ENST00000451973.1_Intron	p.PS189del	NM_001193646.1	NP_001180575.1	WXS	Illumina GAIIx	Phase_I	Q9Y2D1	ATF5_HUMAN		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	3	943_945	+		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	189			Interaction with PTP4A1 (By similarity).|Poly-Pro.		B3KND3|Q9BSA1|Q9UNQ3	In_Frame_Del	DEL	ENST00000423777.2	37	c.566_568delCTT	CCDS12789.1																																																																																				0.64	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			11	18						11	18	---	---	---	---	-	50436068	CTT	-	50436066	7	5	57	1	0	1	0	1	0	0	0	0	1083	681	24	0	572	0	ATF5	19	50436066	In_Frame_Del	DEL	CTT	TCGA-QN-A5NN-01A-11D-A28R-08	38811254	50436066	8692917	76	9797										
PRKCG	5582	broad.mit.edu	37	chr19	54410111	54410111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	acttcgtgcacccggatgccCgcagccccaccagcccagtg	10	19	0	0			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr19:54410111C>T	ENST00000263431.3	+	18	2338	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C	PRKCG_ENST00000542049.1_Missense_Mutation_p.R537C|PRKCG_ENST00000540413.1_Missense_Mutation_p.R686C|CACNG7_ENST00000391767.1_5'Flank	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	686					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)	CCCGGATGCCCGCAGCCCCAC	0.682											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(2056-2058)Cgc>Tgc		protein kinase C, gamma							39	50	46					19																	54410111		2203	4299	6502	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.chr19:54410111C>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.2056C>T	19.37:g.54410111C>T	ENSP00000263431:p.Arg686Cys		Somatic	OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1000	PRKCG_ENST00000540413.1_Missense_Mutation_p.R686C|PRKCG_ENST00000542049.1_Missense_Mutation_p.R537C	p.R686C	NM_002739.3	NP_002730.1	WXS	Illumina GAIIx	Phase_I	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	18	2338	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		686					B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.2056C>T	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348067	0.61183	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.71341	-0.54;-0.56;-0.55	4.75	3.69	0.42338	.	.	.	.	.	T	0.60051	0.2239	N	0.08118	0	0.38733	D	0.953716	P;D;D	0.76494	0.93;0.999;0.99	B;P;P	0.56700	0.348;0.804;0.608	T	0.65249	-0.6214	9	0.87932	D	0	.	6.6439	0.22925	0.1807:0.7214:0.0:0.0979	.	537;686;686	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	C	686;686;537	ENSP00000443493:R686C;ENSP00000263431:R686C;ENSP00000438090:R537C	ENSP00000263431:R686C	R	+	1	0	PRKCG	59101923	0.500000	0.26091	0.998000	0.56505	0.984000	0.73092	1.005000	0.29834	2.355000	0.79922	0.561000	0.74099	CGC		0.682	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		28	82	0	0	0	1	0	28	82					T	54410111	C	T	54410111	3	4	57	1	0	0	0	0	1	0	0	0	12524	652	23	1	2126	1	PRKCG	19	54410111	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	3974045	54410111	4718872	77	9798										
BRSK1	84446	broad.mit.edu	37	chr19	55816083	55816083	+	Frame_Shift_Del	DEL	C	C	-													0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	cgctccacacccctgcccggCcccccaggctccccgcgctc							TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr19:55816083delC	ENST00000309383.1	+	14	1789	c.1512delC	c.(1510-1512)ggcfs	p.G504fs	BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000590333.1_Frame_Shift_Del_p.G520fs|BRSK1_ENST00000326848.7_Frame_Shift_Del_p.G199fs	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	504	Pro-rich.				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)		CCCTGCCCGGCCCCCCAGGCT	0.771																																						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.(1510-1512)ggfs		BR serine/threonine kinase 1				6,1604		3,0,802	1	2	2			4	0.8	19		2	13,3989		3,7,1991	no	frameshift	BRSK1	NM_032430.1		6,7,2793	A1A1,A1R,RR		0.3248,0.3727,0.3386			55816083	19,5593	933	2252	3185	SO:0001589	frameshift_variant	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.chr19:55816083delC	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.1512delC	19.37:g.55816083delC	ENSP00000310649:p.Gly504fs		Somatic				BRSK1_ENST00000590333.1_Frame_Shift_Del_p.G520fs|BRSK1_ENST00000326848.7_Frame_Shift_Del_p.G199fs|BRSK1_ENST00000588584.1_3'UTR	p.G504fs	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)	14	1789	+		Renal(1328;0.245)	504			Pro-rich.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Frame_Shift_Del	DEL	ENST00000309383.1	37	c.1512delC	CCDS12921.1																																																																																				0.771	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		3	3						3	3	---	---	---	---	-	55816083	C	-	55816083	7	5	57	1	0	1	0	1	0	0	0	0	1525	726	26	0	1566	0	BRSK1	19	55816083	Frame_Shift_Del	DEL	C	TCGA-QN-A5NN-01A-11D-A28R-08	1405972	55816083	3312900	78	9799										
VPS16	64601	broad.mit.edu	37	chr20	2842328	2842328	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	aaaggcggctgatggtggtgGgcgatgcacccgagagcatc	17	9	0	2			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:2842328G>A	ENST00000380445.3	+	9	949	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	VPS16_ENST00000380469.3_Missense_Mutation_p.G293S|VPS16_ENST00000380443.3_5'Flank|VPS16_ENST00000481812.2_3'UTR|PTPRA_ENST00000380393.3_5'Flank	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	293					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						GATGGTGGTGGGCGATGCACC	0.622																																						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.(877-879)Ggc>Agc		vacuolar protein sorting 16 homolog (S. cerevisiae)							81	70	74					20																	2842328		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2842328G>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.877G>A	20.37:g.2842328G>A	ENSP00000369810:p.Gly293Ser		Somatic				VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.G293S	p.G293S	NM_022575.2	NP_072097.2	WXS	Illumina GAIIx	Phase_I	Q9H269	VPS16_HUMAN			9	949	+			293					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.877G>A	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849700	0.91277	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000417508	T;T	0.66099	0.33;-0.19	5.55	5.55	0.83447	Vps16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78710	0.4326	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	1.0;0.962	D;P	0.87578	0.998;0.786	T	0.77887	-0.2420	10	0.39692	T	0.17	-19.2306	15.0126	0.71560	0.0:0.0:1.0:0.0	.	293;293	Q9H269-2;Q9H269	.;VPS16_HUMAN	S	293;293;175;175	ENSP00000369810:G293S;ENSP00000369836:G293S	ENSP00000369810:G293S	G	+	1	0	VPS16	2790328	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	6.282000	0.72639	2.631000	0.89168	0.603000	0.83216	GGC		0.622	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		6	13	0	0	0	1	0	6	13					A	2842328	G	A	2842328	3	1	57	1	0	0	0	0	1	0	0	0	17208	1232	43	3	911	3	VPS16	20	2842328	Missense_Mutation	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08		2842328	60183192	79	9800										
CTSZ	1522	broad.mit.edu	37	chr20	57571752	57571752	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	cagtcccatcactgatgcccCacccagccacagaaacgaca	6	18	1	2			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:57571752C>A	ENST00000217131.5	-	5	861	c.743G>T	c.(742-744)tGg>tTg	p.W248L		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	248					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			ACTGATGCCCCACCCAGCCAC	0.448																																						ENST00000217131.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10						c.(742-744)tGg>tTg		cathepsin Z							125	114	117					20																	57571752		2203	4300	6503	SO:0001583	missense	1522				proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity	g.chr20:57571752C>A	AF032906	CCDS13474.1	20q13.32	2012-02-10			ENSG00000101160	ENSG00000101160		"Cathepsins"	2547	protein-coding gene	gene with protein product	"cathepsin X", "carboxypeptidase LB", "cathepsin IV", "cathepsin B2", "cathepsin Y", "cathepsin Z1", "cysteine-type carboxypeptidase", "lysosomal carboxypeptidase B"	603169				9642240	Standard	NM_001336		Approved	CTSX	uc002yai.2	Q9UBR2	OTTHUMG00000032858	ENST00000217131.5:c.743G>T	20.37:g.57571752C>A	ENSP00000217131:p.Trp248Leu		Somatic					p.W248L	NM_001336.3	NP_001327.2	WXS	Illumina GAIIx	Phase_I	Q9UBR2	CATZ_HUMAN	Colorectal(105;0.109)		5	861	-	all_lung(29;0.00711)		248					B2RC40|O75331|Q9UQV5|Q9UQV6	Missense_Mutation	SNP	ENST00000217131.5	37	c.743G>T	CCDS13474.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305131	0.60305	.	.	ENSG00000101160	ENST00000217131	T	0.53640	0.61	5.57	4.63	0.57726	Peptidase C1A, papain C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.78013	0.4217	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85632	0.1271	10	0.87932	D	0	.	15.8466	0.78899	0.1369:0.8631:0.0:0.0	.	248;248	Q5U000;Q9UBR2	.;CATZ_HUMAN	L	248	ENSP00000217131:W248L	ENSP00000217131:W248L	W	-	2	0	CTSZ	57005147	1.000000	0.71417	0.915000	0.36163	0.014000	0.08584	7.616000	0.83018	1.344000	0.45657	0.655000	0.94253	TGG		0.448	CTSZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079899.1	NM_001336		26	52	1	0	1.1804e-14	1	1.24188e-14	26	52					A	57571752	C	A	57571752	3	1	57	1	0	0	0	0	1	0	0	0	4045	595	21	5	176	5	CTSZ	20	57571752	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	54729424	57571752	5453768	80	9801										
LAMA5	3911	broad.mit.edu	37	chr20	60901785	60901785	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	ggccaggcgtggggtatgccGgctccaggaatgtgatgctc	17	10	0	1	rs149220558		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:60901785G>A	ENST00000252999.3	-	40	5312	c.5246C>T	c.(5245-5247)cCg>cTg	p.P1749L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1749	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				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)			GGGGTATGCCGGCTCCAGGAA	0.672													G|||	1	0.000199681	0	0	5008	,	,		17574	0		0.001	False		,,,				2504	0					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.(5245-5247)cCg>cTg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	LEU/PRO	0,4406		0,0,2203	109	74	86		5246	3.1	0.7	20	dbSNP_134	86	10,8590	7.7+/-29.5	0,10,4290	yes	missense	LAMA5	NM_005560.3	98	0,10,6493	AA,AG,GG		0.1163,0.0,0.0769	benign	1749/3696	60901785	10,12996	2203	4300	6503	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.chr20:60901785G>A	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.5246C>T	20.37:g.60901785G>A	ENSP00000252999:p.Pro1749Leu		Somatic					p.P1749L	NM_005560.3	NP_005551.3	WXS	Illumina GAIIx	Phase_I	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		40	5312	-	Breast(26;1.57e-08)		1749			Laminin IV type A.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.5246C>T	CCDS33502.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.939	0.542984	0.13250	0.0	0.001163	ENSG00000130702	ENST00000252999	T	0.38240	1.15	5.12	3.08	0.35506	Laminin B type IV (2);Laminin B, subgroup (1);	0.335009	0.33980	N	0.004369	T	0.20618	0.0496	N	0.19112	0.55	0.09310	N	0.999999	B	0.18863	0.031	B	0.10450	0.005	T	0.14671	-1.0464	10	0.24483	T	0.36	.	8.7757	0.34760	0.1044:0.2569:0.6387:0.0	.	1749	O15230	LAMA5_HUMAN	L	1749	ENSP00000252999:P1749L	ENSP00000252999:P1749L	P	-	2	0	LAMA5	60335180	0.737000	0.28175	0.719000	0.30619	0.206000	0.24218	1.567000	0.36407	1.132000	0.42129	0.555000	0.69702	CCG		0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		26	48	0	0	0	1	0	26	48					A	60901785	G	A	60901785	3	1	57	1	0	0	0	0	1	0	0	0	8618	1116	39	1	6005	1	LAMA5	20	60901785	Missense_Mutation	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08	3330033	60901785	2123735	81	9802										
LAMA5	3911	broad.mit.edu	37	chr20	60927360	60927360	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	gcagatggccgcgtcgtcccGtgtgatgcgctccagcgtct	14	14	1	2	rs375094493		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:60927360G>C	ENST00000252999.3	-	4	691	c.625C>G	c.(625-627)Cgg>Ggg	p.R209G	LAMA5_ENST00000370677.3_Missense_Mutation_p.R209G|RP11-157P1.5_ENST00000478167.1_RNA|RP11-157P1.5_ENST00000487421.1_RNA|LAMA5_ENST00000370692.3_Missense_Mutation_p.R209G|RP11-157P1.5_ENST00000477848.1_RNA|RP11-157P1.5_ENST00000456721.2_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	209	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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)			GCGTCGTCCCGTGTGATGCGC	0.687																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(625-627)Cgg>Ggg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						70	62	64					20																	60927360		2201	4294	6495	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.chr20:60927360G>C	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.625C>G	20.37:g.60927360G>C	ENSP00000252999:p.Arg209Gly		Somatic				LAMA5_ENST00000370677.3_Missense_Mutation_p.R209G|LAMA5_ENST00000370692.3_Missense_Mutation_p.R209G	p.R209G	NM_005560.3	NP_005551.3	WXS	Illumina GAIIx	Phase_I	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		4	691	-	Breast(26;1.57e-08)		209			Laminin N-terminal.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.625C>G	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	4.542	0.100662	0.08731	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.76186	-1.0;-1.0;-1.0	4.04	0.41	0.16387	Laminin, N-terminal (3);	0.816174	0.10984	U	0.612391	T	0.65943	0.2740	L	0.50847	1.595	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.58679	-0.7594	10	0.72032	D	0.01	.	7.2987	0.26408	0.0:0.1142:0.2716:0.6142	.	209	O15230	LAMA5_HUMAN	G	209	ENSP00000252999:R209G;ENSP00000359726:R209G;ENSP00000359711:R209G	ENSP00000252999:R209G	R	-	1	2	LAMA5	60360755	0.000000	0.05858	0.023000	0.16930	0.002000	0.02628	-0.106000	0.10890	0.201000	0.20466	-0.463000	0.05309	CGG		0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		6	17	0	0	0	1	0	6	17					C	60927360	G	C	60927360	3	2	57	1	0	0	0	0	1	0	0	0	8618	1144	40	5	10770	5	LAMA5	20	60927360	Missense_Mutation	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08	25575	60927360	2098160	82	9803										
BAGE2	85319	broad.mit.edu	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	12	6	0	2			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							92	70	77					21																	11058322		692	1591	2283			85319							g.chr21:11058322C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058322C>T			Somatic								WXS	Illumina GAIIx	Phase_I			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	325	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	104	0	0	0	1	0	4	104					T	11058322	C	T	11058322	1	4	57	0	1	0	0	0	0	0	0	0	1292	898	31	1		1	BAGE2	21	11058322	RNA	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08		11058322	37071573	83	9804										
PHKA2	5256	broad.mit.edu	37	chrX	18929042	18929042	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	gattcagtgatttacggtggGcacttagaactttagtcggc	12	7	1	2			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:18929042G>C	ENST00000379942.4	-	20	2839	c.2174C>G	c.(2173-2175)gCc>gGc	p.A725G		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	725					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTTACGGTGGGCACTTAGAAC	0.358																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(2173-2175)gCc>gGc		phosphorylase kinase, alpha 2 (liver)							140	134	136					X																	18929042		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18929042G>C		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2174C>G	X.37:g.18929042G>C	ENSP00000369274:p.Ala725Gly		Somatic					p.A725G	NM_000292.2	NP_000283.1	WXS	Illumina GAIIx	Phase_I	P46019	KPB2_HUMAN			20	2839	-	Hepatocellular(33;0.183)		725					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.2174C>G	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239928	0.22711	.	.	ENSG00000044446	ENST00000379942	D	0.90955	-2.76	5.75	0.00934	0.14079	Glycoside hydrolase 15-related (1);	0.650775	0.17084	N	0.187677	D	0.83294	0.5223	L	0.45581	1.43	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67007	-0.5779	10	0.24483	T	0.36	0.0038	6.1231	0.20164	0.2092:0.2445:0.5463:0.0	.	725	P46019	KPB2_HUMAN	G	725	ENSP00000369274:A725G	ENSP00000369274:A725G	A	-	2	0	PHKA2	18838963	0.645000	0.27286	0.068000	0.19968	0.873000	0.50193	0.730000	0.26043	-0.146000	0.11274	-0.208000	0.12717	GCC		0.358	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		62	20	0	0	0	1	0	62	20					C	18929042	G	C	18929042	3	2	57	1	0	0	0	0	1	0	0	0	11853	1203	42	5	1589	5	PHKA2	23	18929042	Missense_Mutation	SNP	G	TCGA-QN-A5NN-01A-11D-A28R-08		18929042	136341518	84	9805										
CCDC22	28952	broad.mit.edu	37	chrX	49098537	49098537	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	cttcctctaccccagtgagcCtgacctccgagacctgcttc	7	18	1	3			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:49098537C>G	ENST00000376227.3	+	3	454	c.284C>G	c.(283-285)cCt>cGt	p.P95R	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	95										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CCCAGTGAGCCTGACCTCCGA	0.607																																						ENST00000376227.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						c.(283-285)cCt>cGt		coiled-coil domain containing 22							91	63	72					X																	49098537		2203	4300	6503	SO:0001583	missense	28952							g.chrX:49098537C>G	BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"chromosome X open reading frame 37"	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.284C>G	X.37:g.49098537C>G	ENSP00000365401:p.Pro95Arg		Somatic				CCDC22_ENST00000496651.1_3'UTR	p.P95R	NM_014008.3	NP_054727.1	WXS	Illumina GAIIx	Phase_I	O60826	CCD22_HUMAN			3	454	+			95					A8K7G1	Missense_Mutation	SNP	ENST00000376227.3	37	c.284C>G	CCDS14322.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386810	0.82902	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	4.98	4.98	0.66077	.	0.117769	0.64402	D	0.000019	T	0.66479	0.2793	L	0.34521	1.04	0.51482	D	0.999925	D;P	0.89917	1.0;0.898	D;P	0.81914	0.995;0.537	T	0.67616	-0.5625	9	0.48119	T	0.1	-16.7155	15.9853	0.80147	0.0:1.0:0.0:0.0	.	95;95	B4DLA4;O60826	.;CCD22_HUMAN	R	95	.	ENSP00000365401:P95R	P	+	2	0	CCDC22	48985481	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.760000	0.62235	2.288000	0.76882	0.597000	0.82753	CCT		0.607	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008		31	8	0	0	0	1	0	31	8					G	49098537	C	G	49098537	3	3	57	1	0	0	0	0	1	0	0	0	2799	681	24	5	294	5	CCDC22	23	49098537	Missense_Mutation	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	30169495	49098537	106172023	85	9806										
TRO	7216	broad.mit.edu	37	chrX	54955077	54955077	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	gactgggctgtgcagtaccgCgaggcagtggagatggaagt	18	7	0	1			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:54955077C>T	ENST00000173898.7	+	12	2032	c.1920C>T	c.(1918-1920)cgC>cgT	p.R640R	TRO_ENST00000399736.1_Silent_p.R243R|TRO_ENST00000375022.4_Silent_p.R640R|TRO_ENST00000375041.2_Silent_p.R243R|TRO_ENST00000420798.2_Silent_p.R171R|TRO_ENST00000319167.8_Silent_p.R640R|SNORA11_ENST00000408823.1_RNA	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	640	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGCAGTACCGCGAGGCAGTGG	0.512																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(1918-1920)cgC>cgT		trophinin							50	53	52					X																	54955077		2101	4226	6327	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54955077C>T	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1920C>T	X.37:g.54955077C>T			Somatic				TRO_ENST00000399736.1_Silent_p.R243R|TRO_ENST00000375022.4_Silent_p.R640R|TRO_ENST00000375041.2_Silent_p.R243R|TRO_ENST00000420798.2_Silent_p.R171R|TRO_ENST00000319167.8_Silent_p.R640R	p.R640R	NM_001039705.1	NP_001034794.1	WXS	Illumina GAIIx	Phase_I	Q12816	TROP_HUMAN			12	2032	+			640			MAGE.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.1920C>T	CCDS43959.1																																																																																				0.512	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		37	5	0	0	0	1	0	37	5					T	54955077	C	T	54955077	2	4	57	1	0	0	0	0	0	0	0	1	16589	755	27	1		1	TRO	23	54955077	Silent	SNP	C	TCGA-QN-A5NN-01A-11D-A28R-08	5856540	54955077	100315483	86	9807										
ARHGAP36	158763	broad.mit.edu	37	chrX	130220396	130220396	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	0.0344827586206897	3	1	0.488920454545455	0.869191919191919	0.401165501165501	1	1	0	gacgcaggaacttgaggaagAtccagtgagtgttttttggg	15	5	0	3			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:130220396A>T	ENST00000276211.5	+	10	1720	c.1375A>T	c.(1375-1377)Atc>Ttc	p.I459F	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.I323F|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.I447F	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	459					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						CTTGAGGAAGATCCAGTGAGT	0.473																																						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.(1375-1377)Atc>Ttc		Rho GTPase activating protein 36							88	86	87					X																	130220396		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:130220396A>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1375A>T	X.37:g.130220396A>T	ENSP00000276211:p.Ile459Phe		Somatic				ARHGAP36_ENST00000370922.1_Missense_Mutation_p.I447F|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.I323F	p.I459F	NM_144967.3	NP_659404.2	WXS	Illumina GAIIx	Phase_I	Q6ZRI8	RHG36_HUMAN			10	1720	+			459					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1375A>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.088453	0.36855	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.11063	2.81;2.82;2.83;2.82	4.13	4.13	0.48395	.	0.000000	0.45867	D	0.000327	T	0.05640	0.0148	N	0.08118	0	0.40841	D	0.983671	P;P;B	0.36535	0.557;0.557;0.421	B;B;B	0.39419	0.299;0.299;0.157	T	0.48603	-0.9021	10	0.16420	T	0.52	.	8.5323	0.33342	1.0:0.0:0.0:0.0	.	428;447;459	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	F	459;447;428;323	ENSP00000276211:I459F;ENSP00000359960:I447F;ENSP00000408515:I428F;ENSP00000359959:I323F	ENSP00000276211:I459F	I	+	1	0	ARHGAP36	130048077	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.033000	0.49743	1.833000	0.53350	0.486000	0.48141	ATC		0.473	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		11	31	0	0	0	1	0	11	31					T	130220396	A	T	130220396	3	4	57	1	0	0	0	0	1	0	0	0	883	333	12	4	1409	4	ARHGAP36	23	130220396	Missense_Mutation	SNP	A	TCGA-QN-A5NN-01A-11D-A28R-08	75265319	130220396	25050164	87	9808										
